diff --git a/client/package-lock.json b/client/package-lock.json index 3e6b7f38..2f4781de 100644 --- a/client/package-lock.json +++ b/client/package-lock.json @@ -1,12 +1,12 @@ { "name": "hpo-web", - "version": "1.8.8", + "version": "1.8.9", "lockfileVersion": 2, "requires": true, "packages": { "": { "name": "hpo-web", - "version": "1.8.8", + "version": "1.8.9", "license": "MIT", "dependencies": { "@angular/animations": "^14.2.12", diff --git a/server/build.gradle b/server/build.gradle index c3543dfd..c7d3220f 100644 --- a/server/build.gradle +++ b/server/build.gradle @@ -16,7 +16,7 @@ buildscript { } } -version "1.17.23" +version "1.17.24" group "hpo.api" apply plugin: "idea" diff --git a/server/src/main/resources/hgnc_complete_set.txt b/server/src/main/resources/hgnc_complete_set.txt index 5154dbde..fde891ad 100644 --- a/server/src/main/resources/hgnc_complete_set.txt +++ b/server/src/main/resources/hgnc_complete_set.txt @@ -1,7 +1,7 @@ hgnc_id symbol name locus_group locus_type status location location_sortable alias_symbol alias_name prev_symbol prev_name gene_group gene_group_id date_approved_reserved date_symbol_changed date_name_changed date_modified entrez_id ensembl_gene_id vega_id ucsc_id ena refseq_accession ccds_id uniprot_ids pubmed_id mgd_id rgd_id lsdb cosmic omim_id mirbase homeodb snornabase bioparadigms_slc orphanet pseudogene.org horde_id merops imgt iuphar kznf_gene_catalog mamit-trnadb cd lncrnadb enzyme_id intermediate_filament_db rna_central_ids lncipedia gtrnadb agr mane_select gencc HGNC:5 A1BG alpha-1-B glycoprotein protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Immunoglobulin like domain containing 594 1989-06-30 2023-01-20 1 ENSG00000121410 OTTHUMG00000183507 uc002qsd.5 NM_130786 CCDS12976 P04217 2591067 MGI:2152878 RGD:69417 138670 I43.950 HGNC:5 "ENST00000263100.8|NM_130786.4" HGNC:37133 A1BG-AS1 A1BG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 FLJ23569 "NCRNA00181|A1BGAS|A1BG-AS" "non-protein coding RNA 181|A1BG antisense RNA (non-protein coding)|A1BG antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-07-20 2010-11-25 2012-08-15 2013-06-27 503538 ENSG00000268895 OTTHUMG00000183508 uc002qse.3 BC040926 NR_015380 A1BG-AS1 HGNC:37133 -HGNC:24086 A1CF APOBEC1 complementation factor protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "ACF|ASP|ACF64|ACF65|APOBEC1CF" RNA binding motif containing 725 2007-11-23 2023-01-20 29974 ENSG00000148584 OTTHUMG00000018240 uc057tgv.1 AF271790 NM_014576 "CCDS7243|CCDS7241|CCDS73133|CCDS7242" Q9NQ94 "11815617|11072063" MGI:1917115 RGD:619834 618199 HGNC:24086 "ENST00000373997.8|NM_014576.4" +HGNC:24086 A1CF APOBEC1 complementation factor protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "ACF|ASP|ACF64|ACF65|APOBEC1CF" RNA binding motif containing 725 2007-11-23 2023-01-20 29974 ENSG00000148584 OTTHUMG00000018240 uc057tgv.1 AF271790 NM_014576 "CCDS7242|CCDS73133|CCDS7241|CCDS7243" Q9NQ94 "11815617|11072063" MGI:1917115 RGD:619834 618199 HGNC:24086 "ENST00000373997.8|NM_014576.4" HGNC:7 A2M alpha-2-macroglobulin protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "FWP007|S863-7|CPAMD5" Alpha-2-macroglobulin family 2148 1986-01-01 2023-01-20 2 ENSG00000175899 OTTHUMG00000150267 uc001qvk.2 "BX647329|X68728|M11313" NM_000014 CCDS44827 P01023 "2408344|9697696" MGI:2449119 RGD:2004 LRG_591|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_591.xml 103950 I39.001 HGNC:7 "ENST00000318602.12|NM_000014.6" HGNC:7 HGNC:27057 A2M-AS1 A2M antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 "A2M antisense RNA 1 (non-protein coding)|A2M antisense RNA 1" Antisense RNAs 1987 2012-06-23 2018-03-21 2018-03-21 144571 ENSG00000245105 OTTHUMG00000168289 uc009zgj.2 NR_026971 A2M-AS1 HGNC:27057 HGNC:23336 A2ML1 alpha-2-macroglobulin like 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "FLJ25179|p170" CPAMD9 C3 and PZP-like, alpha-2-macroglobulin domain containing 9 Alpha-2-macroglobulin family 2148 2005-07-20 2005-09-01 2016-03-07 2023-01-20 144568 ENSG00000166535 OTTHUMG00000128499 uc001quz.6 AK057908 NM_144670 "CCDS73439|CCDS8596" A8K2U0 16298998 610627 410627 I39.007 HGNC:23336 "ENST00000299698.12|NM_144670.6" HGNC:23336 @@ -20,12 +20,12 @@ HGNC:50301 AADACL2-AS1 AADACL2 antisense RNA 1 non-coding RNA RNA, long non-codi HGNC:32037 AADACL3 arylacetamide deacetylase like 3 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000001887 Arylacetamide deacetylase family 465 2006-06-30 2016-05-26 2023-03-15 126767 ENSG00000188984 OTTHUMG00000001887 uc057ckc.1 NM_001103170 CCDS41253 Q5VUY0 MGI:2685281 RGD:1563257 HGNC:32037 "ENST00000359318.8|NM_001103170.3" HGNC:32038 AADACL4 arylacetamide deacetylase like 4 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000001889 Arylacetamide deacetylase family 465 2006-06-30 2016-05-26 2023-01-20 343066 ENSG00000204518 OTTHUMG00000001889 uc001auf.3 NM_001013630 CCDS30590 Q5VUY2 "MGI:2685282|MGI:2685284|MGI:2685880|MGI:3650257|MGI:3650721|MGI:3652194" RGD:1565761 HGNC:32038 "ENST00000376221.2|NM_001013630.2" HGNC:50305 AADACP1 arylacetamide deacetylase pseudogene 1 pseudogene pseudogene Approved 3q25.1 03q25.1 2014-04-07 2016-08-22 201651 ENSG00000240602 OTTHUMG00000159879 NR_026915 PGOHUM00000299631 HGNC:50305 -HGNC:17929 AADAT aminoadipate aminotransferase protein-coding gene gene with protein product Approved 4q33 04q33 "KATII|KAT2|KYAT2" "kynurenine aminotransferase II|L kynurenine/alpha aminoadipate aminotransferase" 2002-01-16 2023-01-20 51166 ENSG00000109576 OTTHUMG00000160912 uc032udw.1 AF097994 NM_016228 "CCDS75209|CCDS3814" Q8N5Z0 "12126930|10441733|18056995" MGI:1345167 RGD:2948 611754 "2.6.1.39|2.6.1.7" HGNC:17929 "ENST00000337664.9|NM_016228.4" +HGNC:17929 AADAT aminoadipate aminotransferase protein-coding gene gene with protein product Approved 4q33 04q33 "KATII|KAT2|KYAT2" "kynurenine aminotransferase II|L kynurenine/alpha aminoadipate aminotransferase" 2002-01-16 2023-01-20 51166 ENSG00000109576 OTTHUMG00000160912 uc032udw.1 AF097994 NM_016228 "CCDS3814|CCDS75209" Q8N5Z0 "12126930|10441733|18056995" MGI:1345167 RGD:2948 611754 "2.6.1.39|2.6.1.7" HGNC:17929 "ENST00000337664.9|NM_016228.4" HGNC:25662 AAGAB alpha and gamma adaptin binding protein protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ11506|p34" 2009-07-20 2017-06-13 2023-01-20 79719 ENSG00000103591 OTTHUMG00000172246 uc002aqk.6 AL136715 NM_024666 "CCDS61679|CCDS42050" Q6PD74 "11230166|10477754" MGI:1914189 RGD:621601 614888 317366 HGNC:25662 "ENST00000261880.10|NM_024666.5" HGNC:25662 HGNC:19679 AAK1 AP2 associated kinase 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "KIAA1048|DKFZp686K16132" Small nucleolar RNA protein coding host genes 1835 2003-07-21 2023-01-20 22848 ENSG00000115977 OTTHUMG00000129648 uc002sfp.3 AB028971 NM_014911 CCDS1893 Q2M2I8 "11877461|12471243" MGI:1098687 RGD:1305520 616405 HGNC:19679 "ENST00000409085.9|NM_014911.5" -HGNC:30205 AAMDC adipogenesis associated Mth938 domain containing protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "PTD015|FLJ21035|CK067" C11orf67 chromosome 11 open reading frame 67 2006-03-27 2012-10-08 2016-06-21 2023-01-20 28971 ENSG00000087884 OTTHUMG00000166651 uc058fuq.1 BC016854 NM_024684 "CCDS91546|CCDS81605|CCDS81604|CCDS8254" Q9H7C9 22279136 MGI:1913523 RGD:1561459 HGNC:30205 "ENST00000393427.7|NM_024684.4" +HGNC:30205 AAMDC adipogenesis associated Mth938 domain containing protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "PTD015|FLJ21035|CK067" C11orf67 chromosome 11 open reading frame 67 2006-03-27 2012-10-08 2016-06-21 2023-01-20 28971 ENSG00000087884 OTTHUMG00000166651 uc058fuq.1 BC016854 NM_024684 "CCDS81604|CCDS8254|CCDS91546|CCDS81605" Q9H7C9 22279136 MGI:1913523 RGD:1561459 HGNC:30205 "ENST00000393427.7|NM_024684.4" HGNC:18 AAMP angio associated migratory cell protein protein-coding gene gene with protein product Approved 2q35 02q35 WD repeat domain containing 362 1996-11-13 2015-12-08 2023-01-20 14 ENSG00000127837 OTTHUMG00000155202 uc002vhk.4 AB209790 NM_001087 "CCDS77530|CCDS33378" Q13685 7743515 MGI:107809 RGD:1306281 603488 HGNC:18 "ENST00000248450.9|NM_001087.5" -HGNC:19 AANAT aralkylamine N-acetyltransferase protein-coding gene gene with protein product Approved 17q25.1 17q25.1 SNAT serotonin N-acetyltransferase arylalkylamine N-acetyltransferase GCN5 related N-acetyltransferases 1134 1995-12-13 2010-05-07 2023-01-20 15 ENSG00000129673 OTTHUMG00000180179 uc002jro.4 U40347 NM_001088 "CCDS11745|CCDS54169" Q16613 8661026 MGI:1328365 RGD:2006 600950 469884 2.3.1.87 HGNC:19 "ENST00000392492.8|NM_001088.3" +HGNC:19 AANAT aralkylamine N-acetyltransferase protein-coding gene gene with protein product Approved 17q25.1 17q25.1 SNAT serotonin N-acetyltransferase arylalkylamine N-acetyltransferase GCN5 related N-acetyltransferases 1134 1995-12-13 2010-05-07 2023-01-20 15 ENSG00000129673 OTTHUMG00000180179 uc002jro.4 U40347 NM_001088 "CCDS54169|CCDS11745" Q16613 8661026 MGI:1328365 RGD:2006 600950 469884 2.3.1.87 HGNC:19 "ENST00000392492.8|NM_001088.3" HGNC:15886 AAR2 AAR2 splicing factor protein-coding gene gene with protein product Approved 20q11.23 20q11.23 bA234K24.2 C20orf4 "chromosome 20 open reading frame 4|AAR2 splicing factor homolog (S. cerevisiae)|AAR2 splicing factor homolog" 2001-06-21 2012-07-20 2019-02-18 2023-01-20 25980 ENSG00000131043 OTTHUMG00000032380 uc002xfc.4 NM_015511 CCDS13273 Q9Y312 26527271 MGI:1915545 RGD:1311066 617365 HGNC:15886 "ENST00000320849.9|NM_001271874.2" HGNC:15886 HGNC:33842 AARD alanine and arginine rich domain containing protein protein-coding gene gene with protein product Approved 8q24.11 08q24.11 LOC441376 Alanine and arginine-rich domain-containing protein C8orf85 chromosome 8 open reading frame 85 2009-01-23 2012-04-19 2012-04-19 2023-01-20 441376 ENSG00000205002 OTTHUMG00000164961 uc003yof.4 "AB181519|BC140924" NM_001025357 CCDS34935 Q4LEZ3 27959439 MGI:2181621 RGD:631378 HGNC:33842 "ENST00000378279.4|NM_001025357.3" HGNC:20 AARS1 alanyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CMT2N|AlaRS" alanine tRNA ligase 1, cytoplasmic AARS alanyl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 1995-07-11 2019-07-15 2019-07-15 2023-01-20 16 ENSG00000090861 OTTHUMG00000177042 uc002eyn.2 D32050 NM_001605 CCDS32474 P49588 8595897 MGI:2384560 RGD:1304832 LRG_359|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_359.xml 601065 232194 6.1.1.7 HGNC:20 "ENST00000261772.13|NM_001605.3" HGNC:20 @@ -33,39 +33,39 @@ HGNC:49894 AARS1P1 alanyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene A HGNC:21022 AARS2 alanyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "KIAA1270|bA444E17.1" alanine tRNA ligase 2, mitochondrial AARSL "alanyl-tRNA synthetase like|alanyl-tRNA synthetase 2, mitochondrial (putative)" Aminoacyl tRNA synthetases, Class II 132 2003-05-08 2007-02-23 2012-10-26 2023-01-20 57505 ENSG00000124608 OTTHUMG00000014766 uc010jza.2 AB033096 NM_020745 CCDS34464 Q5JTZ9 "15779907|21549344" MGI:2681839 RGD:1310617 612035 269639 6.1.1.7 HGNC:21022 "ENST00000244571.5|NM_020745.4" HGNC:21022 HGNC:28417 AARSD1 alanyl-tRNA synthetase domain containing 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MGC2744|AlaXp" 2005-11-15 2023-01-20 80755 ENSG00000266967 OTTHUMG00000153515 uc031raq.2 BC004172 NM_001261434 CCDS58552 Q9BTE6 26884463 MGI:1916934 RGD:1561650 613212 HGNC:28417 "ENST00000427569.7|NM_001261434.2" HGNC:54994 AARSD1P1 AARSD1 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 2020-05-15 2020-11-24 117981788 ENSG00000234969 NG_070706 PGOHUM00000305150 -HGNC:23993 AASDH aminoadipate-semialdehyde dehydrogenase protein-coding gene gene with protein product Approved 4q12 04q12 "NRPS998|LYS2|ACSF4" "acyl-CoA synthetase family member 4|Beta-alanine-activating enzyme" Acyl-CoA synthetase family 40 2007-10-17 2023-01-20 132949 ENSG00000157426 OTTHUMG00000128841 uc003hbn.5 AF516672 NM_181806 "CCDS68705|CCDS3504|CCDS68706|CCDS75127|CCDS75126" Q4L235 "15865210|12712191|17762044" MGI:2442517 RGD:1311135 614365 1.2.1.31 HGNC:23993 "ENST00000205214.11|NM_181806.4" +HGNC:23993 AASDH aminoadipate-semialdehyde dehydrogenase protein-coding gene gene with protein product Approved 4q12 04q12 "NRPS998|LYS2|ACSF4" "acyl-CoA synthetase family member 4|Beta-alanine-activating enzyme" Acyl-CoA synthetase family 40 2007-10-17 2023-01-20 132949 ENSG00000157426 OTTHUMG00000128841 uc003hbn.5 AF516672 NM_181806 "CCDS75127|CCDS68706|CCDS68705|CCDS75126|CCDS3504" Q4L235 "15865210|12712191|17762044" MGI:2442517 RGD:1311135 614365 1.2.1.31 HGNC:23993 "ENST00000205214.11|NM_181806.4" HGNC:14235 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "LYS5|CGI-80|AASD-PPT|ACPS" "holo ACP synthase|holo-[acyl-carrier-protein] synthase" 2000-12-21 2023-01-20 60496 ENSG00000149313 OTTHUMG00000166253 uc001pjc.2 AF302110 NM_015423 CCDS31664 Q9NRN7 "12815048|11286508|18022563" MGI:1914868 RGD:1311360 607756 2.7.8.7 HGNC:14235 "ENST00000278618.9|NM_015423.3" HGNC:17366 AASS aminoadipate-semialdehyde synthase protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "LORSDH|LKRSDH" "alpha-aminoadipic semialdehyde synthase|lysine ketoglutarate reductase/saccharopine dehydrogenase" 2002-01-09 2023-01-20 10157 ENSG00000008311 OTTHUMG00000157058 uc003vkb.4 AF229180 NM_005763 CCDS5783 Q9UDR5 10775527 MGI:1353573 RGD:1310811 605113 123389 "1.5.1.8|1.5.1.9" HGNC:17366 "ENST00000417368.7|NM_005763.4" HGNC:17366 HGNC:51526 AATBC apoptosis associated transcript in bladder cancer non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 apoptosis-associated transcript in bladder cancer Long non-coding RNAs with non-systematic symbols 1992 2015-02-13 2023-03-15 284837 ENSG00000215458 OTTHUMG00000086882 NR_026961 25473900 AATBC HGNC:51526 -HGNC:19235 AATF apoptosis antagonizing transcription factor protein-coding gene gene with protein product Approved 17q12 17q12 "DED|CHE-1|CHE1|BFR2" MicroRNA protein coding host genes 1691 2002-09-13 2023-01-20 26574 ENSG00000275700 OTTHUMG00000188458 uc002hni.3 AF083208 NM_012138 "CCDS32632|CCDS92291" Q9NY61 "11027528|10783144" MGI:1929608 RGD:620685 608463 HGNC:19235 "ENST00000619387.5|NM_012138.4" +HGNC:19235 AATF apoptosis antagonizing transcription factor protein-coding gene gene with protein product Approved 17q12 17q12 "DED|CHE-1|CHE1|BFR2" MicroRNA protein coding host genes 1691 2002-09-13 2023-01-20 26574 ENSG00000275700 OTTHUMG00000188458 uc002hni.3 AF083208 NM_012138 "CCDS92291|CCDS32632" Q9NY61 "11027528|10783144" MGI:1929608 RGD:620685 608463 HGNC:19235 "ENST00000619387.5|NM_012138.4" HGNC:21 AATK apoptosis associated tyrosine kinase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "AATYK|KIAA0641|LMTK1|LMR1|AATYK1|PPP1R77" "lemur tyrosine kinase 1|protein phosphatase 1, regulatory subunit 77" "Receptor tyrosine kinases|Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "321|694|1691" 1999-09-16 2016-06-09 2023-01-20 9625 ENSG00000181409 OTTHUMG00000132717 uc010dia.4 AB014541 NM_004920 "CCDS58607|CCDS45807" Q6ZMQ8 "9734811|10083745|22573681" MGI:1197518 RGD:1590980 605276 HGNC:21 "ENST00000326724.9|NM_001080395.3" HGNC:22 AAVS1 adeno-associated virus integration site 1 other virus integration site Approved 19q13 19q13 AAV 1990-09-10 2010-06-16 17 S51329 1334463 102699 HGNC:49667 ABALON apoptotic BCL2L1-antisense long non-coding RNA non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 INXS "apoptotic BCL-X-associated long ncRNA|intronic BCL-XS-inducing lncRNA" Long non-coding RNAs with non-systematic symbols 1992 2014-03-13 2018-08-15 103021294 ENSG00000281376 OTTHUMG00000189574 KC505631 NR_131907 HGNC:49667 -HGNC:23 ABAT 4-aminobutyrate aminotransferase protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "GABAT|GABA-T" "4-aminobutyrate transaminase|gamma-aminobutyrate aminotransferase|GABA transaminase" 1996-03-13 2023-01-20 18 ENSG00000183044 OTTHUMG00000048201 uc002czc.5 L32961 NM_020686 "CCDS10534|CCDS92104" P80404 7721088 MGI:2443582 RGD:620948 137150 117617 2.6.1.19 HGNC:23 "ENST00000268251.13|NM_020686.6" HGNC:23 +HGNC:23 ABAT 4-aminobutyrate aminotransferase protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "GABAT|GABA-T" "4-aminobutyrate transaminase|gamma-aminobutyrate aminotransferase|GABA transaminase" 1996-03-13 2023-01-20 18 ENSG00000183044 OTTHUMG00000048201 uc002czc.5 L32961 NM_020686 "CCDS92104|CCDS10534" P80404 7721088 MGI:2443582 RGD:620948 137150 117617 2.6.1.19 HGNC:23 "ENST00000268251.13|NM_020686.6" HGNC:23 HGNC:29 ABCA1 ATP binding cassette subfamily A member 1 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 TGD Tangier disease "ABC1|HDLDT1" ATP-binding cassette, sub-family A (ABC1), member 1 ATP binding cassette subfamily A 805 2005-03-17 2015-11-13 2023-01-20 19 ENSG00000165029 OTTHUMG00000020417 uc004bcl.4 AJ012376 NM_005502 CCDS6762 O95477 "8088782|10431236|10431237|10431238" MGI:99607 RGD:631344 LRG_542|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_542.xml 600046 159528 objectId:756 HGNC:29 "ENST00000374736.8|NM_005502.4" HGNC:29 -HGNC:32 ABCA2 ATP binding cassette subfamily A member 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 ABC2 ATP-binding cassette, sub-family A (ABC1), member 2 ATP binding cassette subfamily A 805 1994-03-16 2015-11-13 2023-01-20 20 ENSG00000107331 OTTHUMG00000020958 uc064xhf.1 U18235 NM_001606 "CCDS94539|CCDS94538|CCDS43909" Q9BZC7 8088782 MGI:99606 RGD:620238 600047 objectId:757 HGNC:32 "ENST00000341511.11|NM_001606.5" HGNC:32 +HGNC:32 ABCA2 ATP binding cassette subfamily A member 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 ABC2 ATP-binding cassette, sub-family A (ABC1), member 2 ATP binding cassette subfamily A 805 1994-03-16 2015-11-13 2023-01-20 20 ENSG00000107331 OTTHUMG00000020958 uc064xhf.1 U18235 NM_001606 "CCDS43909|CCDS94539|CCDS94538" Q9BZC7 8088782 MGI:99606 RGD:620238 600047 objectId:757 HGNC:32 "ENST00000341511.11|NM_001606.5" HGNC:32 HGNC:33 ABCA3 ATP binding cassette subfamily A member 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ABC-C|EST111653|LBM180" ABC3 ATP-binding cassette, sub-family A (ABC1), member 3 ATP binding cassette subfamily A 805 1996-08-08 2015-11-13 2023-01-20 21 ENSG00000167972 OTTHUMG00000128845 uc002cpy.2 U78735 NM_001089 CCDS10466 Q99758 8706931 MGI:1351617 RGD:1307174 601615 140560 objectId:758 HGNC:33 "ENST00000301732.10|NM_001089.3" HGNC:33 HGNC:55707 ABCA3P1 ABCA3 pseudogene 1 pseudogene pseudogene Approved 16p12.2 16p12.2 2021-07-05 2021-07-05 342293 ENSG00000257408 NG_022511 HGNC:34 ABCA4 ATP binding cassette subfamily A member 4 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "FFM|ARMD2|CORD3" Stargardt disease "STGD1|ABCR|RP19|STGD" "ATP-binding cassette transporter, retinal-specific|ATP-binding cassette, sub-family A (ABC1), member 4" ATP binding cassette subfamily A 805 1994-07-14 2015-11-13 2023-01-20 24 ENSG00000198691 OTTHUMG00000010622 uc001dqh.4 U88667 NM_000350 CCDS747 P78363 9490294 MGI:109424 RGD:1309445 Mutations of the ATP-binding Cassette Transporter Retina|http://www.retina-international.org/files/sci-news/abcrmut.htm 601691 117623 objectId:759 HGNC:34 "ENST00000370225.4|NM_000350.3" HGNC:34 HGNC:35 ABCA5 ATP binding cassette subfamily A member 5 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 EST90625 ATP-binding cassette, sub-family A (ABC1), member 5 ATP binding cassette subfamily A 805 1999-10-26 2015-11-13 2023-01-20 23461 ENSG00000154265 OTTHUMG00000180303 uc002jig.3 U66672 NM_018672 CCDS11685 Q8WWZ7 8894702 MGI:2386607 RGD:628661 612503 404800 objectId:760 HGNC:35 "ENST00000392676.8|NM_172232.4" HGNC:35 HGNC:36 ABCA6 ATP binding cassette subfamily A member 6 protein-coding gene gene with protein product Approved 17q24.2-q24.3 17q24.2-q24.3 EST155051 ATP-binding cassette, sub-family A (ABC1), member 6 "ATP binding cassette subfamily A|MicroRNA protein coding host genes" "805|1691" 1999-10-26 2015-11-13 2023-01-20 23460 ENSG00000154262 OTTHUMG00000180258 uc002jhw.2 U66680 NM_080284 CCDS11683 Q8N139 8894702 MGI:1923434 RGD:1308998 612504 objectId:761 HGNC:36 "ENST00000284425.7|NM_080284.3" HGNC:37 ABCA7 ATP binding cassette subfamily A member 7 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ABCX ATP-binding cassette, sub-family A (ABC1), member 7 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2023-01-20 10347 ENSG00000064687 OTTHUMG00000167547 uc002lqw.5 AF328787 NM_019112 CCDS12055 Q8IZY2 "10873640|11435699|12917409" MGI:1351646 RGD:1303134 605414 objectId:762 HGNC:37 "ENST00000263094.11|NM_019112.4" -HGNC:38 ABCA8 ATP binding cassette subfamily A member 8 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 KIAA0822 ATP-binding cassette, sub-family A (ABC1), member 8 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2023-01-20 10351 ENSG00000141338 OTTHUMG00000180192 uc002jhq.5 AB020629 NM_007168 "CCDS11680|CCDS74138|CCDS74139" O94911 "12379217|23560799" "MGI:1351668|MGI:2386846" RGD:1307069 612505 objectId:763 HGNC:38 "ENST00000586539.6|NM_001288985.2" +HGNC:38 ABCA8 ATP binding cassette subfamily A member 8 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 KIAA0822 ATP-binding cassette, sub-family A (ABC1), member 8 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2023-01-20 10351 ENSG00000141338 OTTHUMG00000180192 uc002jhq.5 AB020629 NM_007168 "CCDS74138|CCDS11680|CCDS74139" O94911 "12379217|23560799" "MGI:1351668|MGI:2386846" RGD:1307069 612505 objectId:763 HGNC:38 "ENST00000586539.6|NM_001288985.2" HGNC:39 ABCA9 ATP binding cassette subfamily A member 9 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 EST640918 ATP-binding cassette, sub-family A (ABC1), member 9 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2023-03-15 10350 ENSG00000154258 OTTHUMG00000140371 uc002jhu.4 AF423307 NM_172386 CCDS11681 Q8IUA7 12150964 MGI:2386796 RGD:1305931 612507 objectId:764 HGNC:39 "ENST00000340001.9|NM_080283.4" HGNC:39983 ABCA9-AS1 ABCA9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q24.2 17q24.2 ABCA9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 104355297 ENSG00000231749 OTTHUMG00000140370 uc060jgk.1 NR_126414 ABCA9-AS1 HGNC:39983 -HGNC:30 ABCA10 ATP binding cassette subfamily A member 10 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 EST698739 ATP-binding cassette, sub-family A (ABC1), member 10 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2023-01-20 10349 ENSG00000154263 OTTHUMG00000164716 uc010dfa.2 AY247065 NM_080282 CCDS11684 Q8WWZ4 "12821155|11435397" 612508 469886 objectId:765 HGNC:30 "ENST00000690296.1|NM_001377321.1" +HGNC:30 ABCA10 ATP binding cassette subfamily A member 10 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 EST698739 ATP-binding cassette, sub-family A (ABC1), member 10 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2023-01-20 10349 ENSG00000154263 OTTHUMG00000164716 uc010dfa.2 AY247065 NM_080282 CCDS11684 Q8WWZ4 "12821155|11435397" RGD:1307333 612508 469886 objectId:765 HGNC:30 "ENST00000690296.1|NM_001377321.1" HGNC:31 ABCA11P ATP binding cassette subfamily A member 11, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 "EST1133530|FLJ14297" ABCA11 ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene ATP binding cassette subfamily A 805 1999-06-11 2008-09-09 2015-11-13 2023-03-15 79963 ENSG00000251595 OTTHUMG00000159884 AK024359 NR_002451.2 PGOHUM00000245425 HGNC:31 -HGNC:14637 ABCA12 ATP binding cassette subfamily A member 12 protein-coding gene gene with protein product Approved 2q35 02q35 "DKFZP434G232|LI2" ICR2B "ichthyosis congenita II, lamellar ichthyosis B|ATP-binding cassette, sub-family A (ABC1), member 12" ATP binding cassette subfamily A 805 2001-08-16 2015-11-13 2023-01-20 26154 ENSG00000144452 OTTHUMG00000154801 uc002vew.3 AF418105 NM_173076 "CCDS33372|CCDS33373" Q86UK0 "11435397|12915478|8845852|10094194" MGI:2676312 RGD:1304586 607800 117620 objectId:766 HGNC:14637 "ENST00000272895.12|NM_173076.3" HGNC:14637 +HGNC:14637 ABCA12 ATP binding cassette subfamily A member 12 protein-coding gene gene with protein product Approved 2q35 02q35 "DKFZP434G232|LI2" ICR2B "ichthyosis congenita II, lamellar ichthyosis B|ATP-binding cassette, sub-family A (ABC1), member 12" ATP binding cassette subfamily A 805 2001-08-16 2015-11-13 2023-01-20 26154 ENSG00000144452 OTTHUMG00000154801 uc002vew.3 AF418105 NM_173076 "CCDS33373|CCDS33372" Q86UK0 "11435397|12915478|8845852|10094194" MGI:2676312 RGD:1304586 607800 117620 objectId:766 HGNC:14637 "ENST00000272895.12|NM_173076.3" HGNC:14637 HGNC:14638 ABCA13 ATP binding cassette subfamily A member 13 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "FLJ33876|FLJ33951" ATP-binding cassette, sub-family A (ABC1), member 13 ATP binding cassette subfamily A 805 2004-12-21 2015-11-13 2023-01-20 154664 ENSG00000179869 OTTHUMG00000155840 uc003toq.2 AY204751 NM_152701 CCDS47584 Q86UQ4 12697998 MGI:2388707 RGD:1305895 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ABCA13 607807 objectId:767 HGNC:14638 "ENST00000435803.6|NM_152701.5" HGNC:14638 HGNC:34405 ABCA15P ATP binding cassette subfamily A member 15, pseudogene pseudogene pseudogene Approved 16p12.2 16p12.2 FLJ41766 "NCRNA00169|CRYM-AS1" "non-protein coding RNA 169|CRYM antisense RNA 1 (non-protein coding)|CRYM antisense RNA 1" 2009-01-26 2022-06-16 2022-06-16 2023-03-15 400508 ENSG00000189149 OTTHUMG00000156701 uc010bwr.2 NR_026675 35414504 MGI:2388709 CRYM-AS1 HGNC:34405 HGNC:32972 ABCA17P ATP binding cassette subfamily A member 17, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene ATP binding cassette subfamily A 805 2006-09-19 2015-11-13 2020-08-13 650655 ENSG00000238098 OTTHUMG00000154348 DQ266102 NR_003574 16968533 MGI:3625331 PGOHUM00000250669 HGNC:32972 HGNC:40 ABCB1 ATP binding cassette subfamily B member 1 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "P-gp|CD243|GP170|ABC20|p-170|PGY1" "multidrug resistance protein 1|P-glycoprotein" "PGY1|MDR1|CLCS" "colchicin sensitivity|ATP-binding cassette, sub-family B (MDR/TAP), member 1" "CD molecules|ATP binding cassette subfamily B" "471|806" 1986-01-01 2015-11-13 2023-01-20 5243 ENSG00000085563 OTTHUMG00000023393 uc003uiz.3 M14758 NM_000927 CCDS5608 P08183 3027054 MGI:97570 RGD:619951 171050 318801 objectId:768 CD243 HGNC:40 "ENST00000622132.5|NM_001348946.2" -HGNC:45 ABCB4 ATP binding cassette subfamily B member 4 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "MDR2|PFIC-3|GBD1" "PGY3|MDR3" ATP-binding cassette, sub-family B (MDR/TAP), member 4 ATP binding cassette subfamily B 806 1988-05-11 2015-11-13 2023-01-20 5244 ENSG00000005471 OTTHUMG00000023396 uc003uix.1 M23234 NM_000443 "CCDS5607|CCDS5606|CCDS5605" P21439 "2892668|11313316" MGI:97569 RGD:620248 171060 117639 objectId:771 HGNC:45 "ENST00000649586.2|NM_000443.4" HGNC:45 -HGNC:46 ABCB5 ATP binding cassette subfamily B member 5 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "EST422562|ABCB5beta|ABCB5alpha" "P-glycoprotein ABCB5|ATP-binding cassette protein" ATP-binding cassette, sub-family B (MDR/TAP), member 5 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2023-01-20 340273 ENSG00000004846 OTTHUMG00000094789 uc010kuh.4 U66692 NM_178559 "CCDS55090|CCDS5371|CCDS55092|CCDS55091" Q2M3G0 "8894702|12960149" MGI:1924956 RGD:1566342 611785 objectId:772 HGNC:46 "ENST00000404938.7|NM_001163941.2" -HGNC:47 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) protein-coding gene gene with protein product Approved 2q35 02q35 "EST45597|umat|MTABC3" ATP-binding cassette half-transporter "ATP-binding cassette, sub-family B (MDR/TAP), member 6|ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)" "Blood group antigens|ATP binding cassette subfamily B" "454|806" 1999-10-26 2015-11-13 2023-01-20 10058 ENSG00000115657 OTTHUMG00000133131 uc002vkc.3 AF070598 NM_005689 "CCDS86920|CCDS2436" Q9NP58 "8894702|9110174" MGI:1921354 RGD:71077 LRG_824|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_824.xml 605452 291794 objectId:773 HGNC:47 "ENST00000265316.9|NM_005689.4" HGNC:47 -HGNC:48 ABCB7 ATP binding cassette subfamily B member 7 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "EST140535|Atm1p|ASAT" ABC7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 ATP binding cassette subfamily B 806 1997-09-12 2015-11-13 2023-01-20 22 ENSG00000131269 OTTHUMG00000021862 uc004ebz.5 AF038950 NM_004299 "CCDS65291|CCDS14428|CCDS65290|CCDS75994" O75027 9143506 MGI:109533 RGD:1303086 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ABCB7|LRG_1162|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1162.xml" 300135 117646 objectId:774 HGNC:48 "ENST00000373394.8|NM_001271696.3" HGNC:48 -HGNC:49 ABCB8 ATP binding cassette subfamily B member 8 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "EST328128|M-ABC1|MABC1|MITOSUR" mitochondrial ABC protein ATP-binding cassette, sub-family B (MDR/TAP), member 8 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2023-01-20 11194 ENSG00000197150 OTTHUMG00000158686 uc003wik.6 AF047690 NM_007188 "CCDS64799|CCDS64798|CCDS5913|CCDS64800" Q9NUT2 8894702 MGI:1351667 RGD:1307655 605464 469888 objectId:775 HGNC:49 "ENST00000358849.9|NM_007188.5" -HGNC:50 ABCB9 ATP binding cassette subfamily B member 9 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 EST122234 ATP-binding cassette, sub-family B (MDR/TAP), member 9 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2023-03-15 23457 ENSG00000150967 OTTHUMG00000168769 uc058upb.1 U66676 NM_019624 "CCDS58287|CCDS58288|CCDS58286|CCDS9241" Q9NP78 8894702 MGI:1861729 RGD:620254 605453 objectId:776 HGNC:50 "ENST00000280560.13|NM_019625.4" +HGNC:45 ABCB4 ATP binding cassette subfamily B member 4 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "MDR2|PFIC-3|GBD1" "PGY3|MDR3" ATP-binding cassette, sub-family B (MDR/TAP), member 4 ATP binding cassette subfamily B 806 1988-05-11 2015-11-13 2023-01-20 5244 ENSG00000005471 OTTHUMG00000023396 uc003uix.1 M23234 NM_000443 "CCDS5607|CCDS5605|CCDS5606" P21439 "2892668|11313316" MGI:97569 RGD:620248 171060 117639 objectId:771 HGNC:45 "ENST00000649586.2|NM_000443.4" HGNC:45 +HGNC:46 ABCB5 ATP binding cassette subfamily B member 5 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "EST422562|ABCB5beta|ABCB5alpha" "P-glycoprotein ABCB5|ATP-binding cassette protein" ATP-binding cassette, sub-family B (MDR/TAP), member 5 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2023-01-20 340273 ENSG00000004846 OTTHUMG00000094789 uc010kuh.4 U66692 NM_178559 "CCDS55091|CCDS5371|CCDS55092|CCDS55090" Q2M3G0 "8894702|12960149" MGI:1924956 RGD:1566342 611785 objectId:772 HGNC:46 "ENST00000404938.7|NM_001163941.2" +HGNC:47 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) protein-coding gene gene with protein product Approved 2q35 02q35 "EST45597|umat|MTABC3" ATP-binding cassette half-transporter "ATP-binding cassette, sub-family B (MDR/TAP), member 6|ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)" "Blood group antigens|ATP binding cassette subfamily B" "454|806" 1999-10-26 2015-11-13 2023-01-20 10058 ENSG00000115657 OTTHUMG00000133131 uc002vkc.3 AF070598 NM_005689 "CCDS2436|CCDS86920" Q9NP58 "8894702|9110174" MGI:1921354 RGD:71077 LRG_824|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_824.xml 605452 291794 objectId:773 HGNC:47 "ENST00000265316.9|NM_005689.4" HGNC:47 +HGNC:48 ABCB7 ATP binding cassette subfamily B member 7 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "EST140535|Atm1p|ASAT" ABC7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 ATP binding cassette subfamily B 806 1997-09-12 2015-11-13 2023-01-20 22 ENSG00000131269 OTTHUMG00000021862 uc004ebz.5 AF038950 NM_004299 "CCDS65290|CCDS14428|CCDS75994|CCDS65291" O75027 9143506 MGI:109533 RGD:1303086 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ABCB7|LRG_1162|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1162.xml" 300135 117646 objectId:774 HGNC:48 "ENST00000373394.8|NM_001271696.3" HGNC:48 +HGNC:49 ABCB8 ATP binding cassette subfamily B member 8 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "EST328128|M-ABC1|MABC1|MITOSUR" mitochondrial ABC protein ATP-binding cassette, sub-family B (MDR/TAP), member 8 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2023-01-20 11194 ENSG00000197150 OTTHUMG00000158686 uc003wik.6 AF047690 NM_007188 "CCDS5913|CCDS64800|CCDS64799|CCDS64798" Q9NUT2 8894702 MGI:1351667 RGD:1307655 605464 469888 objectId:775 HGNC:49 "ENST00000358849.9|NM_007188.5" +HGNC:50 ABCB9 ATP binding cassette subfamily B member 9 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 EST122234 ATP-binding cassette, sub-family B (MDR/TAP), member 9 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2023-03-15 23457 ENSG00000150967 OTTHUMG00000168769 uc058upb.1 U66676 NM_019624 "CCDS58286|CCDS58288|CCDS58287|CCDS9241" Q9NP78 8894702 MGI:1861729 RGD:620254 605453 objectId:776 HGNC:50 "ENST00000280560.13|NM_019625.4" HGNC:41 ABCB10 ATP binding cassette subfamily B member 10 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "EST20237|M-ABC2|MTABC2" "ATP-binding cassette sub-family B member 10, mitochondrial|ATP-binding cassette transporter 10|ABC transporter 10 protein|mitochondrial ATP-binding cassette 2" ATP-binding cassette, sub-family B (MDR/TAP), member 10 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2023-01-20 23456 ENSG00000135776 OTTHUMG00000039471 uc001htp.4 U18237 NM_012089 CCDS1580 Q9NRK6 7766993 MGI:1860508 RGD:1311222 605454 objectId:777 HGNC:41 "ENST00000344517.5|NM_012089.3" HGNC:14114 ABCB10P1 ABCB10 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 "M-ABC2|MABC2" "ABCB10P|ABCB10P2" "ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene|ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 2|ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1|ATP binding cassette subfamily B member 10 pseudogene 1" 2001-07-13 2008-09-09 2018-05-23 2018-05-23 56476 ENSG00000274099 OTTHUMG00000188344 AF218417 NG_005041 "7766993|10922475" PGOHUM00000293137 HGNC:14114 HGNC:31129 ABCB10P3 ABCB10 pseudogene 3 pseudogene pseudogene Approved 15q13.1 15q13.1 "ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 3|ATP binding cassette subfamily B member 10 pseudogene 3" 2010-06-17 2018-05-23 2018-05-23 728248 ENSG00000261524 OTTHUMG00000175874 NG_022122 PGOHUM00000293151 HGNC:31129 @@ -73,18 +73,18 @@ HGNC:31130 ABCB10P4 ABCB10 pseudogene 4 pseudogene pseudogene Approved 15q13.1 1 HGNC:42 ABCB11 ATP binding cassette subfamily B member 11 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "ABC16|SPGP|PFIC-2|PGY4" ABC member 16, MDR/TAP subfamily "BSEP|PFIC2" "progressive familial intrahepatic cholestasis 2|bile salt export pump|ATP-binding cassette, sub-family B (MDR/TAP), member 11" ATP binding cassette subfamily B 806 1998-09-25 2015-11-13 2023-01-20 8647 ENSG00000073734 OTTHUMG00000154039 uc002ueo.2 AF091582 NM_003742 CCDS46444 O95342 9806540 MGI:1351619 RGD:619930 "CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=ABCB11|LRG_1199|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1199.xml" 603201 117631 objectId:778 HGNC:42 "ENST00000650372.1|NM_003742.4" HGNC:42 HGNC:51 ABCC1 ATP binding cassette subfamily C member 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 GS-X glutathione S-conjugate export pump "MRP|MRP1" "multidrug resistance associated protein 1|ATP-binding cassette, sub-family C (CFTR/MRP), member 1" ATP binding cassette subfamily C 807 1993-06-29 2015-11-13 2023-03-15 4363 ENSG00000103222 OTTHUMG00000048267 uc010bvi.4 L05628 NM_004996 "CCDS45427|CCDS42122" P33527 "8098549|1360704" MGI:102676 RGD:3112 158343 469890 objectId:779 HGNC:51 "ENST00000399410.8|NM_004996.4" HGNC:51 HGNC:53 ABCC2 ATP binding cassette subfamily C member 2 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "DJS|MRP2|cMRP" CMOAT "canalicular multispecific organic anion transporter 1|ATP-binding cassette, sub-family C (CFTR/MRP), member 2" ATP binding cassette subfamily C 807 1997-05-09 2015-11-13 2023-01-20 1244 ENSG00000023839 OTTHUMG00000018895 uc001kqf.3 U63970 NM_000392 CCDS7484 Q92887 "8797578|9284939" MGI:1352447 RGD:2366 LRG_1208|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1208.xml 601107 117652 objectId:780 HGNC:53 "ENST00000647814.1|NM_000392.5" HGNC:53 -HGNC:54 ABCC3 ATP binding cassette subfamily C member 3 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "MRP3|cMOAT2|EST90757|MLP2|MOAT-D" canalicular multispecific organic anion transporter 2 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2023-01-20 8714 ENSG00000108846 OTTHUMG00000162245 uc002isl.4 Y17151 NM_020038 "CCDS45739|CCDS32681" O15438 "8894702|9827529" MGI:1923658 RGD:71101 604323 469892 objectId:781 HGNC:54 "ENST00000285238.13|NM_003786.4" -HGNC:55 ABCC4 ATP binding cassette subfamily C member 4 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "MRP4|EST170205|MOAT-B|MOATB" "canalicular multispecific organic anion transporter (ABC superfamily)|bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)|multidrug resistance-associated protein 4|multispecific organic anion transporter B" ATP-binding cassette, sub-family C (CFTR/MRP), member 4 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2023-01-20 10257 ENSG00000125257 OTTHUMG00000017216 uc001vmd.5 U66682 NM_005845 "CCDS45061|CCDS9474|CCDS76643|CCDS86356" O15439 "8894702|9661885" MGI:2443111 RGD:620266 LRG_1183|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1183.xml 605250 469894 objectId:782 HGNC:55 "ENST00000645237.2|NM_005845.5" HGNC:55 -HGNC:56 ABCC5 ATP binding cassette subfamily C member 5 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "MRP5|SMRP|EST277145|MOAT-C" ATP-binding cassette, sub-family C (CFTR/MRP), member 5 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2023-01-20 10057 ENSG00000114770 OTTHUMG00000156871 uc003fmg.4 AF104942 NM_005688 "CCDS43176|CCDS33898" O15440 "8894702|9827529" MGI:1351644 RGD:70913 605251 objectId:783 HGNC:56 "ENST00000334444.11|NM_005688.4" +HGNC:54 ABCC3 ATP binding cassette subfamily C member 3 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "MRP3|cMOAT2|EST90757|MLP2|MOAT-D" canalicular multispecific organic anion transporter 2 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2023-01-20 8714 ENSG00000108846 OTTHUMG00000162245 uc002isl.4 Y17151 NM_020038 "CCDS32681|CCDS45739" O15438 "8894702|9827529" MGI:1923658 RGD:71101 604323 469892 objectId:781 HGNC:54 "ENST00000285238.13|NM_003786.4" +HGNC:55 ABCC4 ATP binding cassette subfamily C member 4 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "MRP4|EST170205|MOAT-B|MOATB" "canalicular multispecific organic anion transporter (ABC superfamily)|bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)|multidrug resistance-associated protein 4|multispecific organic anion transporter B" ATP-binding cassette, sub-family C (CFTR/MRP), member 4 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2023-01-20 10257 ENSG00000125257 OTTHUMG00000017216 uc001vmd.5 U66682 NM_005845 "CCDS45061|CCDS76643|CCDS86356|CCDS9474" O15439 "8894702|9661885" MGI:2443111 RGD:620266 LRG_1183|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1183.xml 605250 469894 objectId:782 HGNC:55 "ENST00000645237.2|NM_005845.5" HGNC:55 +HGNC:56 ABCC5 ATP binding cassette subfamily C member 5 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "MRP5|SMRP|EST277145|MOAT-C" ATP-binding cassette, sub-family C (CFTR/MRP), member 5 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2023-01-20 10057 ENSG00000114770 OTTHUMG00000156871 uc003fmg.4 AF104942 NM_005688 "CCDS33898|CCDS43176" O15440 "8894702|9827529" MGI:1351644 RGD:70913 605251 objectId:783 HGNC:56 "ENST00000334444.11|NM_005688.4" HGNC:40055 ABCC5-AS1 ABCC5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 ABCC5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 100873982 ENSG00000223882 OTTHUMG00000156870 uc031scp.1 NR_046570 ABCC5-AS1 HGNC:40055 HGNC:57 ABCC6 ATP binding cassette subfamily C member 6 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "MRP6|EST349056|MLP1|URG7" "ARA|PXE" "pseudoxanthoma elasticum|ATP-binding cassette, sub-family C (CFTR/MRP), member 6" ATP binding cassette subfamily C 807 1997-10-27 2015-11-13 2023-01-20 368 ENSG00000091262 OTTHUMG00000129967 uc002den.5 AF076622 NM_001079528 "CCDS10568|CCDS58430" O95255 "9721217|11439001" MGI:1351634 RGD:620268 "Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)|http://www.retina-international.org/files/sci-news/abcc6mut.htm|LOVD at NCBI|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6|LRG_1115|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1115.xml" 603234 117658 objectId:784 HGNC:57 "ENST00000205557.12|NM_001171.6" HGNC:57 HGNC:33352 ABCC6P1 ATP binding cassette subfamily C member 6 pseudogene 1 pseudogene pseudogene Approved 16p12.3 16p12.3 "ATP-binding cassette, sub-family C, member 6 pseudogene 1|ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)|ATP binding cassette subfamily C member 6 pseudogene 1 (functional)" 2007-02-23 2016-01-29 2016-08-22 653190 ENSG00000256340 OTTHUMG00000177192 BC075833 NR_003569 "18405356|22873774" PGOHUM00000307541 HGNC:33352 HGNC:33353 ABCC6P2 ATP binding cassette subfamily C member 6 pseudogene 2 pseudogene pseudogene Approved 16p13.11 16p13.11 ATP-binding cassette, sub-family C, member 6 pseudogene 2 2007-02-23 2015-11-13 2016-08-22 730013 ENSG00000255277 OTTHUMG00000166266 NR_023387 22873774 PGOHUM00000293430 HGNC:33353 -HGNC:59 ABCC8 ATP binding cassette subfamily C member 8 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "HI|PHHI|SUR1|MRP8|ABC36|HHF1|TNDM2" sulfonylurea receptor (hyperinsulinemia) "SUR|HRINS" ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ATP binding cassette subfamily C 807 1995-01-10 2015-11-13 2023-01-20 6833 ENSG00000006071 OTTHUMG00000166316 uc001mnc.4 L78207 NM_000352 "CCDS86183|CCDS31437|CCDS86185|CCDS86184|CCDS73264" Q09428 "7920639|7716548" MGI:1352629 RGD:3786 LRG_790|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_790.xml 600509 117665 objectId:2594 HGNC:59 "ENST00000389817.8|NM_000352.6" HGNC:59 +HGNC:59 ABCC8 ATP binding cassette subfamily C member 8 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "HI|PHHI|SUR1|MRP8|ABC36|HHF1|TNDM2" sulfonylurea receptor (hyperinsulinemia) "SUR|HRINS" ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ATP binding cassette subfamily C 807 1995-01-10 2015-11-13 2023-01-20 6833 ENSG00000006071 OTTHUMG00000166316 uc001mnc.4 L78207 NM_000352 "CCDS73264|CCDS31437|CCDS86185|CCDS86183|CCDS86184" Q09428 "7920639|7716548" MGI:1352629 RGD:3786 LRG_790|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_790.xml 600509 117665 objectId:2594 HGNC:59 "ENST00000389817.8|NM_000352.6" HGNC:59 HGNC:60 ABCC9 ATP binding cassette subfamily C member 9 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "SUR2|CMD1O" sulfonylurea receptor 2 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2023-03-15 10060 ENSG00000069431 OTTHUMG00000169094 uc001rfi.2 AF061323 NM_005691 "CCDS8693|CCDS8694" O60706 "9457174|15034580" MGI:1352630 RGD:3787 LRG_377|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_377.xml 601439 117673 objectId:2746 HGNC:60 "ENST00000261200.9|NM_020297.4" HGNC:60 HGNC:52 ABCC10 ATP binding cassette subfamily C member 10 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "EST182763|MRP7|SIMRP7" ATP-binding cassette, sub-family C (CFTR/MRP), member 10 "ATP binding cassette subfamily C|MicroRNA protein coding host genes" "807|1691" 1999-10-26 2015-11-13 2023-01-20 89845 ENSG00000124574 OTTHUMG00000014733 uc003ouz.1 U66684 NM_033450 "CCDS56430|CCDS4896" Q5T3U5 8894702 MGI:2386976 RGD:1306696 612509 objectId:785 HGNC:52 "ENST00000372530.9|NM_001198934.2" HGNC:14639 ABCC11 ATP binding cassette subfamily C member 11 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 MRP8 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 ATP binding cassette subfamily C 807 2001-06-01 2015-11-13 2023-01-20 85320 ENSG00000121270 OTTHUMG00000133146 uc059txd.1 AF367202 NM_032583 "CCDS10732|CCDS10733" Q96J66 "11483364|11435397" 607040 objectId:786 HGNC:14639 "ENST00000356608.7|NM_001370497.1" -HGNC:14640 ABCC12 ATP binding cassette subfamily C member 12 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 MRP9 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 ATP binding cassette subfamily C 807 2001-08-16 2015-11-13 2023-03-15 94160 ENSG00000140798 OTTHUMG00000133143 uc002efc.1 AY040220 NM_033226 "CCDS92155|CCDS92153|CCDS92154" Q96J65 "11435397|11483364" MGI:2441679 RGD:735100 607041 objectId:787 HGNC:14640 "ENST00000311303.8|NM_001393797.1" +HGNC:14640 ABCC12 ATP binding cassette subfamily C member 12 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 MRP9 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 ATP binding cassette subfamily C 807 2001-08-16 2015-11-13 2023-03-15 94160 ENSG00000140798 OTTHUMG00000133143 uc002efc.1 AY040220 NM_033226 "CCDS92153|CCDS92155|CCDS92154" Q96J65 "11435397|11483364" MGI:2441679 RGD:735100 607041 objectId:787 HGNC:14640 "ENST00000311303.8|NM_001393797.1" HGNC:16022 ABCC13 ATP binding cassette subfamily C member 13 (pseudogene) pseudogene pseudogene Approved 21q11.2 21q11.2 "PRED6|C21orf73|ABCC13P" ATP-binding cassette, sub-family C (CFTR/MRP), member 13 ATP binding cassette subfamily C 807 2002-11-11 2016-01-06 2023-03-15 150000 ENSG00000243064 OTTHUMG00000074257 AF418600 NR_003087 "12445816|15203202" 608835 PGOHUM00000258120 HGNC:16022 HGNC:61 ABCD1 ATP binding cassette subfamily D member 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "AMN|ALDP|adrenoleukodystrophy" ALD ATP-binding cassette, sub-family D (ALD), member 1 ATP binding cassette subfamily D 808 1986-01-01 2015-11-13 2023-01-20 215 ENSG00000101986 OTTHUMG00000024215 uc004fif.2 Z21876 NM_000033 CCDS14728 P33897 "8441467|6795626" MGI:1349215 RGD:1562128 "X-linked Adrenoleukodystrophy Database|http://www.x-ald.nl|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ABCD1|LRG_1017|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1017.xml" 300371 117677 objectId:788 HGNC:61 "ENST00000218104.6|NM_000033.4" HGNC:61 HGNC:62 ABCD1P1 ATP binding cassette subfamily D member 1 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 1999-10-29 2015-11-13 2020-04-07 23785 U90290 NG_001246 "8829626|9215666" PGOHUM00000297984 HGNC:62 @@ -93,30 +93,30 @@ HGNC:64 ABCD1P3 ATP binding cassette subfamily D member 1 pseudogene 3 pseudogen HGNC:65 ABCD1P4 ATP binding cassette subfamily D member 1 pseudogene 4 pseudogene pseudogene Approved 22q11.1 22q11.1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 1999-12-17 2015-11-13 2015-11-13 26957 ENSG00000225293 OTTHUMG00000030330 U90291 NG_001265 "9215666|10591208" PGOHUM00000246377 HGNC:65 HGNC:42662 ABCD1P5 ATP binding cassette subfamily D member 1 pseudogene 5 pseudogene pseudogene Approved 2p11.1 02p11.1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 5 2011-08-12 2015-11-13 2015-11-13 642762 ENSG00000214330 OTTHUMG00000155089 NG_006974 PGOHUM00000240771 HGNC:42662 HGNC:66 ABCD2 ATP binding cassette subfamily D member 2 protein-coding gene gene with protein product Approved 12q12 12q12 "ALDR|ALDRP" ALDL1 ATP-binding cassette, sub-family D (ALD), member 2 ATP binding cassette subfamily D 808 1997-10-10 2015-11-13 2023-01-20 225 ENSG00000173208 OTTHUMG00000169337 uc001rmb.3 U28150 NM_005164 CCDS8734 Q9UBJ2 8577752 MGI:1349467 RGD:69244 601081 469896 objectId:789 HGNC:66 "ENST00000308666.4|NM_005164.4" -HGNC:67 ABCD3 ATP binding cassette subfamily D member 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "PMP70|ZWS2" peroxisomal membrane protein 70 kDa PXMP1 "ATP-binding cassette, sub-family D (ALD), member 3|peroxisomal membrane protein 1 (70kD, Zellweger syndrome)" "ATP binding cassette subfamily D|GOLD domain containing" "808|1062" 1992-03-03 2015-11-13 2023-01-20 5825 ENSG00000117528 OTTHUMG00000010717 uc001dqn.5 M81182 NM_002858 "CCDS749|CCDS44175" P28288 "1301993|8449508" MGI:1349216 RGD:2007 170995 469898 objectId:790 HGNC:67 "ENST00000370214.9|NM_002858.4" HGNC:67 +HGNC:67 ABCD3 ATP binding cassette subfamily D member 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "PMP70|ZWS2" peroxisomal membrane protein 70 kDa PXMP1 "ATP-binding cassette, sub-family D (ALD), member 3|peroxisomal membrane protein 1 (70kD, Zellweger syndrome)" "ATP binding cassette subfamily D|GOLD domain containing" "808|1062" 1992-03-03 2015-11-13 2023-01-20 5825 ENSG00000117528 OTTHUMG00000010717 uc001dqn.5 M81182 NM_002858 "CCDS44175|CCDS749" P28288 "1301993|8449508" MGI:1349216 RGD:2007 170995 469898 objectId:790 HGNC:67 "ENST00000370214.9|NM_002858.4" HGNC:67 HGNC:68 ABCD4 ATP binding cassette subfamily D member 4 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "PMP69|P70R|EST352188" PXMP1L ATP-binding cassette, sub-family D (ALD), member 4 ATP binding cassette subfamily D 808 1997-10-27 2015-11-13 2023-03-15 5826 ENSG00000119688 OTTHUMG00000171207 uc001xpr.3 AF009746 NM_005050 CCDS9828 O14678 "9266848|9302272" MGI:1349217 RGD:1307273 603214 315413 HGNC:68 "ENST00000356924.9|NM_005050.4" HGNC:68 HGNC:69 ABCE1 ATP binding cassette subfamily E member 1 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "RLI|OABP|RLI1" RNase L inhibitor 1 "RNASEL1|RNASELI|RNS4I" ATP-binding cassette, sub-family E (OABP), member 1 ATP binding cassette subfamily E 809 1995-11-01 2015-11-13 2023-01-20 6059 ENSG00000164163 OTTHUMG00000161478 uc003ijy.4 X74987 NM_002940 CCDS34071 P61221 7539425 MGI:1195458 RGD:1305301 601213 HGNC:69 "ENST00000296577.9|NM_002940.3" -HGNC:70 ABCF1 ATP binding cassette subfamily F member 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 EST123147 ABC50 ATP-binding cassette, sub-family F (GCN20), member 1 "ATP binding cassette subfamily F|MicroRNA protein coding host genes" "810|1691" 1998-04-07 2015-11-13 2023-01-20 23 ENSG00000204574 OTTHUMG00000031094 uc003nql.4 AF027302 NM_001025091 "CCDS34380|CCDS34381" Q8NE71 9790762 MGI:1351658 RGD:620286 603429 HGNC:70 "ENST00000326195.13|NM_001025091.2" +HGNC:70 ABCF1 ATP binding cassette subfamily F member 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 EST123147 ABC50 ATP-binding cassette, sub-family F (GCN20), member 1 "ATP binding cassette subfamily F|MicroRNA protein coding host genes" "810|1691" 1998-04-07 2015-11-13 2023-01-20 23 ENSG00000204574 OTTHUMG00000031094 uc003nql.4 AF027302 NM_001025091 "CCDS34381|CCDS34380" Q8NE71 9790762 MGI:1351658 RGD:620286 603429 HGNC:70 "ENST00000326195.13|NM_001025091.2" HGNC:53628 ABCF1-DT ABCF1 divergent transcript non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 Divergent transcripts 1990 2017-08-03 2017-08-03 107986587 XR_001756540 HGNC:53628 HGNC:71 ABCF2 ATP binding cassette subfamily F member 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "EST133090|ABC28|M-ABC1|HUSSY-18" ATP-binding cassette, sub-family F (GCN20), member 2 ATP binding cassette subfamily F 810 1999-10-26 2015-11-13 2023-01-20 10061 ENSG00000033050 OTTHUMG00000154570 uc003wjp.5 AJ005016 NM_005692 CCDS5923 Q9UG63 8894702 MGI:1351657 RGD:1304942 612510 HGNC:71 "ENST00000287844.7|NM_007189.3" HGNC:54751 ABCF2-H2BK1 ABCF2-H2BK1 readthrough other readthrough Approved 7q36.1 07q36.1 ABCF2-H2BE1 ABCF2-H2BE1 readthrough 2020-01-06 2021-10-18 2021-10-18 2023-01-20 114483834 ENSG00000285292 NM_005692 CCDS5922 MGI:1351657 HGNC:48841 ABCF2P1 ATP binding cassette subfamily F member 2 pseudogene 1 pseudogene pseudogene Approved 3p11.1 03p11.1 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 1 2013-06-19 2015-11-13 2015-11-13 344653 ENSG00000242159 OTTHUMG00000159043 NG_022253 PGOHUM00000238094 HGNC:48841 HGNC:48842 ABCF2P2 ATP binding cassette subfamily F member 2 pseudogene 2 pseudogene pseudogene Approved 7q11.22 07q11.22 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 2 2013-06-19 2015-11-13 2015-11-13 100422059 ENSG00000228769 OTTHUMG00000156669 NG_026596 PGOHUM00000233410 HGNC:48842 HGNC:72 ABCF3 ATP binding cassette subfamily F member 3 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 EST201864 ATP-binding cassette, sub-family F (GCN20), member 3 ATP binding cassette subfamily F 810 1999-10-26 2015-11-13 2023-01-20 55324 ENSG00000161204 OTTHUMG00000156824 uc003fmz.3 U66685 NM_018358 "CCDS87173|CCDS3254" Q9NUQ8 8894702 MGI:1351656 RGD:1310468 618967 HGNC:72 "ENST00000429586.7|NM_018358.3" -HGNC:73 ABCG1 ATP binding cassette subfamily G member 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 ABC8 ATP-binding cassette transporter 8 ATP-binding cassette, sub-family G (WHITE), member 1 ATP binding cassette subfamily G 811 1999-10-26 2015-11-13 2023-01-20 9619 ENSG00000160179 OTTHUMG00000086791 uc002zaq.4 U34919 NM_207174 "CCDS13683|CCDS13682|CCDS42937|CCDS42938|CCDS13681" P45844 "8659545|16870176" MGI:107704 RGD:620294 603076 objectId:791 HGNC:73 "ENST00000398449.8|NM_016818.3" -HGNC:74 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "EST157481|MXR|BCRP|ABCP|CD338" "ATP-binding cassette, sub-family G (WHITE), member 2|ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)" "Blood group antigens|CD molecules|ATP binding cassette subfamily G" "454|471|811" 1999-10-26 2015-11-13 2023-01-20 9429 ENSG00000118777 OTTHUMG00000130601 uc003hrg.4 AF103796 NM_004827 "CCDS3628|CCDS58910" Q9UNQ0 "8894702|9861027" MGI:1347061 RGD:631345 LRG_823|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_823.xml 603756 469900 objectId:792 CDw338 HGNC:74 "ENST00000237612.8|NM_004827.3" +HGNC:73 ABCG1 ATP binding cassette subfamily G member 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 ABC8 ATP-binding cassette transporter 8 ATP-binding cassette, sub-family G (WHITE), member 1 ATP binding cassette subfamily G 811 1999-10-26 2015-11-13 2023-01-20 9619 ENSG00000160179 OTTHUMG00000086791 uc002zaq.4 U34919 NM_207174 "CCDS13683|CCDS42937|CCDS42938|CCDS13682|CCDS13681" P45844 "8659545|16870176" MGI:107704 RGD:620294 603076 objectId:791 HGNC:73 "ENST00000398449.8|NM_016818.3" +HGNC:74 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "EST157481|MXR|BCRP|ABCP|CD338" "ATP-binding cassette, sub-family G (WHITE), member 2|ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)" "Blood group antigens|CD molecules|ATP binding cassette subfamily G" "454|471|811" 1999-10-26 2015-11-13 2023-01-20 9429 ENSG00000118777 OTTHUMG00000130601 uc003hrg.4 AF103796 NM_004827 "CCDS58910|CCDS3628" Q9UNQ0 "8894702|9861027" MGI:1347061 RGD:631345 LRG_823|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_823.xml 603756 469900 objectId:792 CDw338 HGNC:74 "ENST00000237612.8|NM_004827.3" HGNC:13884 ABCG4 ATP binding cassette subfamily G member 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 WHITE2 "putative ABC transporter|ATP-binding cassette, subfamily G, member 4" ATP-binding cassette, sub-family G (WHITE), member 4 ATP binding cassette subfamily G 811 2001-08-16 2015-11-13 2023-01-20 64137 ENSG00000172350 OTTHUMG00000166169 uc031yhk.2 AJ300465 NM_022169 CCDS8415 Q9H172 11435397 MGI:1890594 RGD:1305840 607784 objectId:793 HGNC:13884 "ENST00000619701.5|NM_022169.5" HGNC:13886 ABCG5 ATP binding cassette subfamily G member 5 protein-coding gene gene with protein product Approved 2p21 02p21 STSL sterolin 1 ATP-binding cassette, sub-family G (WHITE), member 5 ATP binding cassette subfamily G 811 2000-12-12 2015-11-13 2023-01-20 64240 ENSG00000138075 OTTHUMG00000128758 uc002rtn.3 T93792 NM_022436 CCDS1814 Q9H222 "11099417|11452359" MGI:1351659 RGD:620298 LRG_1181|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1181.xml 605459 117683 objectId:794 HGNC:13886 "ENST00000405322.8|NM_022436.3" HGNC:13886 HGNC:13887 ABCG8 ATP binding cassette subfamily G member 8 protein-coding gene gene with protein product Approved 2p21 02p21 GBD4 "gallbladder disease 4|sterolin 2" "ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)|ATP-binding cassette, sub-family G (WHITE), member 8" ATP binding cassette subfamily G 811 2000-12-12 2015-11-13 2023-01-20 64241 ENSG00000143921 OTTHUMG00000128756 uc002rtq.3 AF320294 NM_022437 CCDS1815 Q9H221 "11099417|17626266" MGI:1914720 RGD:620300 LRG_1182|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1182.xml 605460 117685 objectId:795 HGNC:13887 "ENST00000272286.4|NM_022437.3" HGNC:13887 HGNC:17553 ABHD1 abhydrolase domain containing 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "LABH1|FLJ36128" Abhydrolase domain containing 4 2002-06-20 2023-03-15 84696 ENSG00000143994 OTTHUMG00000097072 uc002rit.4 AK093447 NM_032604 CCDS1736 Q96SE0 11922611 MGI:1931013 RGD:1310988 612195 HGNC:17553 "ENST00000316470.9|NM_032604.4" HGNC:18717 ABHD2 abhydrolase domain containing 2, acylglycerol lipase protein-coding gene gene with protein product Approved 15q26.1 15q26.1 LABH2 abhydrolase domain containing 2 Abhydrolase domain containing 4 2002-06-20 2020-01-21 2023-01-20 11057 ENSG00000140526 OTTHUMG00000148684 uc002bnk.2 X12433 NM_001416412 CCDS10348 P08910 "27247428|28684316|26989199" MGI:1914344 RGD:1311389 612196 S33.019 objectId:3147 HGNC:18717 "ENST00000352732.10|NM_152924.5" -HGNC:18718 ABHD3 abhydrolase domain containing 3, phospholipase protein-coding gene gene with protein product Approved 18q11.2 18q11.2 LABH3 abhydrolase domain containing 3 Abhydrolase domain containing 4 2002-06-20 2020-01-21 2023-01-20 171586 ENSG00000158201 OTTHUMG00000179099 uc002ktl.2 AK024880 NM_001308256 "CCDS77159|CCDS77160|CCDS32802" Q8WU67 21926997 MGI:2147183 RGD:1310655 612197 HGNC:18718 "ENST00000289119.7|NM_138340.5" +HGNC:18718 ABHD3 abhydrolase domain containing 3, phospholipase protein-coding gene gene with protein product Approved 18q11.2 18q11.2 LABH3 abhydrolase domain containing 3 Abhydrolase domain containing 4 2002-06-20 2020-01-21 2023-01-20 171586 ENSG00000158201 OTTHUMG00000179099 uc002ktl.2 AK024880 NM_001308256 "CCDS77159|CCDS32802|CCDS77160" Q8WU67 21926997 MGI:2147183 RGD:1310655 612197 HGNC:18718 "ENST00000289119.7|NM_138340.5" HGNC:20154 ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ12816 abhydrolase domain containing 4 Abhydrolase domain containing 4 2002-12-18 2020-01-21 2023-01-20 63874 ENSG00000100439 OTTHUMG00000028686 uc001wgm.4 AK022878 NM_001392009 CCDS9572 Q8TB40 "25853435|16818490" MGI:1915938 RGD:1311858 619728 S33.013 HGNC:20154 "ENST00000428304.7|NM_022060.3" -HGNC:21396 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase protein-coding gene gene with protein product Approved 3p21.33 03p21.33 "CGI-58|NCIE2" abhydrolase domain containing 5 Abhydrolase domain containing 4 2003-06-16 2020-01-21 2023-01-20 51099 ENSG00000011198 OTTHUMG00000133039 uc003cmx.4 AF007132 NM_016006 "CCDS2711|CCDS93252|CCDS93253" Q8WTS1 "11590543|18606822|19801371" MGI:1914719 RGD:1303237 LRG_1174|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1174.xml 604780 117687 S33.975 HGNC:21396 "ENST00000644371.2|NM_016006.6" HGNC:21396 +HGNC:21396 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase protein-coding gene gene with protein product Approved 3p21.33 03p21.33 "CGI-58|NCIE2" abhydrolase domain containing 5 Abhydrolase domain containing 4 2003-06-16 2020-01-21 2023-01-20 51099 ENSG00000011198 OTTHUMG00000133039 uc003cmx.4 AF007132 NM_016006 "CCDS93253|CCDS2711|CCDS93252" Q8WTS1 "11590543|18606822|19801371" MGI:1914719 RGD:1303237 LRG_1174|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1174.xml 604780 117687 S33.975 HGNC:21396 "ENST00000644371.2|NM_016006.6" HGNC:21396 HGNC:21398 ABHD6 abhydrolase domain containing 6, acylglycerol lipase protein-coding gene gene with protein product Approved 3p14.3 03p14.3 abhydrolase domain containing 6 Abhydrolase domain containing 4 2003-06-13 2020-01-21 2023-01-20 57406 ENSG00000163686 OTTHUMG00000159150 uc003djt.5 AF225418 NM_020676 CCDS2887 Q9BV23 "22969151|25504894|26491015|24095738" MGI:1913332 RGD:1359323 616966 objectId:2919 3.1.1.23 HGNC:21398 "ENST00000478253.6|NM_001320126.2" HGNC:23759 ABHD8 abhydrolase domain containing 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ11743|MGC14280|MGC2512" Abhydrolase domain containing 4 2003-12-08 2023-01-20 79575 ENSG00000127220 OTTHUMG00000182663 uc002ngb.4 AK021805 NM_024527 CCDS12355 Q96I13 12477932 MGI:1918946 RGD:1305693 S33.011 HGNC:23759 "ENST00000247706.4|NM_024527.5" -HGNC:25656 ABHD10 abhydrolase domain containing 10, depalmitoylase protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ11342 Mycophenolic acid acyl-glucuronide esterase, mitochondrial abhydrolase domain containing 10 Abhydrolase domain containing 4 2005-01-24 2020-01-21 2023-01-20 55347 ENSG00000144827 OTTHUMG00000159280 uc003dyk.6 AL713726 NM_018394 "CCDS2963|CCDS63718" Q9NUJ1 "22294686|25217485" MGI:2442422 RGD:1308084 618756 S09.062 HGNC:25656 "ENST00000273359.8|NM_018394.4" -HGNC:16407 ABHD11 abhydrolase domain containing 11 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 PP1226 WBSCR21 Williams Beuren syndrome chromosome region 21 Abhydrolase domain containing 4 2001-08-24 2005-01-27 2005-01-24 2023-03-15 83451 ENSG00000106077 OTTHUMG00000130029 uc003tzb.4 AF217971 NM_001145364 "CCDS47607|CCDS47608|CCDS5558|CCDS75615" Q8NFV4 "28465236|12073013" MGI:1916008 RGD:1304681 S33.976 HGNC:16407 "ENST00000222800.8|NM_148912.4" +HGNC:25656 ABHD10 abhydrolase domain containing 10, depalmitoylase protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ11342 Mycophenolic acid acyl-glucuronide esterase, mitochondrial abhydrolase domain containing 10 Abhydrolase domain containing 4 2005-01-24 2020-01-21 2023-01-20 55347 ENSG00000144827 OTTHUMG00000159280 uc003dyk.6 AL713726 NM_018394 "CCDS63718|CCDS2963" Q9NUJ1 "22294686|25217485" MGI:2442422 RGD:1308084 618756 S09.062 HGNC:25656 "ENST00000273359.8|NM_018394.4" +HGNC:16407 ABHD11 abhydrolase domain containing 11 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 PP1226 WBSCR21 Williams Beuren syndrome chromosome region 21 Abhydrolase domain containing 4 2001-08-24 2005-01-27 2005-01-24 2023-03-15 83451 ENSG00000106077 OTTHUMG00000130029 uc003tzb.4 AF217971 NM_001145364 "CCDS47608|CCDS5558|CCDS47607|CCDS75615" Q8NFV4 "28465236|12073013" MGI:1916008 RGD:1304681 S33.976 HGNC:16407 "ENST00000222800.8|NM_148912.4" HGNC:15868 ABHD12 abhydrolase domain containing 12, lysophospholipase protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "DKFZP434P106|dJ965G21.2|BEM46L2|ABHD12A" C20orf22 "chromosome 20 open reading frame 22|abhydrolase domain containing 12" Abhydrolase domain containing 4 2001-06-21 2006-03-10 2020-01-21 2023-01-20 26090 ENSG00000100997 OTTHUMG00000032121 uc002wus.3 AL117442 NM_015600 "CCDS42857|CCDS13172" Q8N2K0 "22969151|25290914|30237167|24879289" MGI:1923442 RGD:1562570 613599 239970 S09.054 objectId:3070 3.1.1.23 HGNC:15868 "ENST00000339157.10|NM_001042472.3" HGNC:15868 HGNC:19837 ABHD12B abhydrolase domain containing 12B protein-coding gene gene with protein product Approved 14q22.1 14q22.1 BEM46L3 C14orf29 chromosome 14 open reading frame 29 Abhydrolase domain containing 4 2002-11-27 2007-04-03 2007-04-03 2023-03-15 145447 ENSG00000131969 OTTHUMG00000140286 uc001wyr.3 BG698443 NM_001206673 "CCDS55916|CCDS9702" Q7Z5M8 MGI:2685650 RGD:1303145 S09.061 HGNC:19837 "ENST00000337334.7|NM_001206673.2" HGNC:20293 ABHD13 abhydrolase domain containing 13 protein-coding gene gene with protein product Approved 13q33.3 13q33.3 "bA153I24.2|FLJ14906|BEM46L1" C13orf6 chromosome 13 open reading frame 6 Abhydrolase domain containing 4 2004-04-16 2006-03-10 2006-03-10 2023-01-20 84945 ENSG00000139826 OTTHUMG00000017330 uc001vqq.4 AK027812 NM_032859 CCDS32007 Q7L211 MGI:1916154 RGD:1308317 S09.051 HGNC:20293 "ENST00000375898.4|NM_032859.3" @@ -125,9 +125,9 @@ HGNC:38856 ABHD14A-ACY1 ABHD14A-ACY1 readthrough other readthrough Approved 3p21 HGNC:28235 ABHD14B abhydrolase domain containing 14B protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "MGC15429|CIB" Abhydrolase domain containing 4 2005-12-22 2023-01-20 84836 ENSG00000114779 OTTHUMG00000157816 uc003dcn.3 AK075112 NM_032750 CCDS2842 Q96IU4 MGI:1923741 RGD:1359649 S33.983 HGNC:28235 "ENST00000361143.10|NM_001146314.2" HGNC:26971 ABHD15 abhydrolase domain containing 15 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 Abhydrolase domain containing 4 2009-04-06 2023-01-20 116236 ENSG00000168792 OTTHUMG00000179721 uc002hed.3 AK056717 NM_198147 CCDS32602 Q6UXT9 12975309 MGI:1914727 RGD:1304598 619894 HGNC:26971 "ENST00000307201.5|NM_198147.3" HGNC:49685 ABHD15-AS1 ABHD15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q11.2 17q11.2 "linc-TP53I13|lnc-TP53I13" Antisense RNAs 1987 2014-02-04 2014-02-10 104355133 ENSG00000264031 OTTHUMG00000179722 CN275323 24504737 ABHD15-AS1 -HGNC:13921 ABHD16A abhydrolase domain containing 16A, phospholipase protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "NG26|D6S82E" BAT5 "HLA-B associated transcript 5|abhydrolase domain containing 16A" "Abhydrolase domain containing|MicroRNA protein coding host genes" "4|1691" 2001-07-13 2010-12-09 2020-01-21 2023-01-20 7920 ENSG00000204427 OTTHUMG00000031177 uc003nvy.3 AF129756 NM_001177515 "CCDS54988|CCDS4713" O95870 "2911734|2813433|25580854|25290914" MGI:99476 RGD:1303164 142620 S09.065 HGNC:13921 "ENST00000395952.8|NM_021160.3" +HGNC:13921 ABHD16A abhydrolase domain containing 16A, phospholipase protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "NG26|D6S82E" BAT5 "HLA-B associated transcript 5|abhydrolase domain containing 16A" "Abhydrolase domain containing|MicroRNA protein coding host genes" "4|1691" 2001-07-13 2010-12-09 2020-01-21 2023-01-20 7920 ENSG00000204427 OTTHUMG00000031177 uc003nvy.3 AF129756 NM_001177515 "CCDS4713|CCDS54988" O95870 "2911734|2813433|25580854|25290914" MGI:99476 RGD:1303164 142620 S09.065 HGNC:13921 "ENST00000395952.8|NM_021160.3" HGNC:16128 ABHD16B abhydrolase domain containing 16B protein-coding gene gene with protein product Approved 20q13.33 20q13.33 dJ591C20.1 C20orf135 chromosome 20 open reading frame 135 Abhydrolase domain containing 4 2001-07-17 2010-12-09 2010-12-09 2023-01-20 140701 ENSG00000183260 OTTHUMG00000033010 uc002ygx.3 NM_080622 CCDS13539 Q9H3Z7 MGI:3607711 RGD:1309726 620190 HGNC:16128 "ENST00000369916.5|NM_080622.4" -HGNC:28756 ABHD17A abhydrolase domain containing 17A, depalmitoylase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC5244 "C19orf27|FAM108A1" "chromosome 19 open reading frame 27|family with sequence similarity 108, member A1|abhydrolase domain containing 17A" "Abhydrolase domain containing|Depalmitoylases" "4|1749" 2004-03-17 2013-03-15 2020-01-21 2023-01-20 81926 ENSG00000129968 OTTHUMG00000171872 uc002lug.4 BC020512 NM_031213 "CCDS45902|CCDS32867" Q96GS6 "14702039|26701913|27307232|28521134" MGI:106388 RGD:1359682 617942 S09.052 HGNC:28756 "ENST00000292577.12|NM_001130111.2" +HGNC:28756 ABHD17A abhydrolase domain containing 17A, depalmitoylase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC5244 "C19orf27|FAM108A1" "chromosome 19 open reading frame 27|family with sequence similarity 108, member A1|abhydrolase domain containing 17A" "Abhydrolase domain containing|Depalmitoylases" "4|1749" 2004-03-17 2013-03-15 2020-01-21 2023-01-20 81926 ENSG00000129968 OTTHUMG00000171872 uc002lug.4 BC020512 NM_031213 "CCDS32867|CCDS45902" Q96GS6 "14702039|26701913|27307232|28521134" MGI:106388 RGD:1359682 617942 S09.052 HGNC:28756 "ENST00000292577.12|NM_001130111.2" HGNC:28394 ABHD17AP1 ABHD17A pseudogene 1 pseudogene pseudogene Approved 1q21.2 01q21.2 C1orf47 "FAM108A2|ABHD17AP2|FAM108A3|FAM108A11P|FAM108A3P" "family with sequence similarity 108, member A2|abhydrolase domain containing 17A pseudogene 2|family with sequence similarity 108, member A3|family with sequence similarity 108, member A11, pseudogene|family with sequence similarity 108, member A3, pseudogene|abhydrolase domain containing 17A pseudogene 1" 2006-01-17 2013-03-15 2020-01-21 2020-01-21 728917 ENSG00000198658 OTTHUMG00000047949 NG_011738 PGOHUM00000296554 HGNC:28394 HGNC:34041 ABHD17AP3 ABHD17A pseudogene 3 pseudogene pseudogene Approved 1q41 01q41 "FAM108A4|FAM108A4P" "family with sequence similarity 108, member A4|family with sequence similarity 108, member A4, pseudogene|abhydrolase domain containing 17A pseudogene 3" 2008-04-02 2013-03-15 2020-01-21 2020-01-21 648359 ENSG00000250536 OTTHUMG00000036949 XR_041784 PGOHUM00000259514 HGNC:34041 HGNC:34042 ABHD17AP4 ABHD17A pseudogene 4 pseudogene pseudogene Approved 22q11.21 22q11.21 "FAM108A5|FAM108A5P" "family with sequence similarity 108, member A5|family with sequence similarity 108, member A5, pseudogene|abhydrolase domain containing 17A pseudogene P4" 2008-04-02 2013-03-15 2020-01-21 2020-01-21 729495 ENSG00000229107 OTTHUMG00000150752 NG_023156 PGOHUM00000246246 HGNC:34042 @@ -136,23 +136,23 @@ HGNC:34044 ABHD17AP6 ABHD17A pseudogene 6 pseudogene pseudogene Approved 17p11.2 HGNC:38508 ABHD17AP7 ABHD17A pseudogene 7 pseudogene pseudogene Approved 16p11.2 16p11.2 FAM108A8P "family with sequence similarity 108, member A8, pseudogene|abhydrolase domain containing 17A pseudogene 7" 2010-05-25 2013-03-15 2020-01-21 2020-01-21 100133212 ENSG00000260864 OTTHUMG00000176510 NG_022980 PGOHUM00000293533 HGNC:38508 HGNC:38509 ABHD17AP8 ABHD17A pseudogene 8 pseudogene pseudogene Approved 16p11.2 16p11.2 FAM108A9P "family with sequence similarity 108, member A9, pseudogene|abhydrolase domain containing 17A pseudogene 8" 2010-05-25 2013-03-15 2020-01-21 2020-01-21 647144 ENSG00000260540 OTTHUMG00000176567 NG_023021 PGOHUM00000293798 HGNC:38509 HGNC:38510 ABHD17AP9 ABHD17A pseudogene 9 pseudogene pseudogene Approved 16p11.2 16p11.2 FAM108A10P "family with sequence similarity 108, member A10, pseudogene|abhydrolase domain containing 17A pseudogene 9" 2010-05-25 2013-03-15 2020-01-21 2020-01-21 100132251 ENSG00000261536 OTTHUMG00000176455 NG_028293 PGOHUM00000293815 HGNC:38510 -HGNC:24278 ABHD17B abhydrolase domain containing 17B, depalmitoylase protein-coding gene gene with protein product Approved 9q21.13 09q21.13 CGI-67 "C9orf77|FAM108B1" "chromosome 9 open reading frame 77|family with sequence similarity 108, member B1|abhydrolase domain containing 17B" "Abhydrolase domain containing|Depalmitoylases" "4|1749" 2004-01-27 2013-03-15 2020-01-21 2023-01-20 51104 ENSG00000107362 OTTHUMG00000020001 uc004ail.4 AF151825 NM_016014 "CCDS35042|CCDS35043" Q5VST6 "10810093|26701913|27307232|28521134" MGI:1917816 RGD:1305246 617943 S09.055 HGNC:24278 "ENST00000333421.7|NM_001025780.3" +HGNC:24278 ABHD17B abhydrolase domain containing 17B, depalmitoylase protein-coding gene gene with protein product Approved 9q21.13 09q21.13 CGI-67 "C9orf77|FAM108B1" "chromosome 9 open reading frame 77|family with sequence similarity 108, member B1|abhydrolase domain containing 17B" "Abhydrolase domain containing|Depalmitoylases" "4|1749" 2004-01-27 2013-03-15 2020-01-21 2023-01-20 51104 ENSG00000107362 OTTHUMG00000020001 uc004ail.4 AF151825 NM_016014 "CCDS35043|CCDS35042" Q5VST6 "10810093|26701913|27307232|28521134" MGI:1917816 RGD:1305246 617943 S09.055 HGNC:24278 "ENST00000333421.7|NM_001025780.3" HGNC:26925 ABHD17C abhydrolase domain containing 17C, depalmitoylase protein-coding gene gene with protein product Approved 15q25.1 15q25.1 FAM108C1 "family with sequence similarity 108, member C1|abhydrolase domain containing 17C" "Abhydrolase domain containing|Depalmitoylases" "4|1749" 2007-04-03 2013-03-15 2020-01-21 2023-01-20 58489 ENSG00000136379 uc002bfu.4 NM_021214 CCDS45323 Q6PCB6 "26701913|27307232|28521134" MGI:1917428 RGD:1308210 617944 S09.053 HGNC:26925 "ENST00000258884.5|NM_021214.2" HGNC:26111 ABHD18 abhydrolase domain containing 18 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 FLJ21106 C4orf29 chromosome 4 open reading frame 29 Abhydrolase domain containing 4 2006-07-17 2015-10-16 2015-10-16 2023-03-15 80167 ENSG00000164074 OTTHUMG00000133304 AK024759 NM_001039717 "CCDS87261|CCDS93632" Q0P651 12477932 MGI:1915468 RGD:1563987 HGNC:26111 "ENST00000645843.2|NM_001358451.3" -HGNC:11320 ABI1 abl interactor 1 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "E3B1|ABI-1" SSH3BP1 "spectrin SH3 domain binding protein 1|abl-interactor 1" 1999-05-17 2004-03-19 2015-12-04 2023-01-20 10006 ENSG00000136754 OTTHUMG00000017848 uc001isx.4 U87166 NM_005470 "CCDS31171|CCDS91224|CCDS53501|CCDS53500|CCDS31170|CCDS7150|CCDS53499|CCDS31169|CCDS53498|CCDS53497|CCDS73077|CCDS73078" Q8IZP0 "9593709|9010225" MGI:104913 RGD:621008 ABI1 603050 HGNC:11320 "ENST00000376140.4|NM_001012750.3" +HGNC:11320 ABI1 abl interactor 1 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "E3B1|ABI-1" SSH3BP1 "spectrin SH3 domain binding protein 1|abl-interactor 1" 1999-05-17 2004-03-19 2015-12-04 2023-01-20 10006 ENSG00000136754 OTTHUMG00000017848 uc001isx.4 U87166 NM_005470 "CCDS31171|CCDS53497|CCDS53501|CCDS53500|CCDS73078|CCDS91224|CCDS73077|CCDS31169|CCDS31170|CCDS53499|CCDS53498|CCDS7150" Q8IZP0 "9593709|9010225" MGI:104913 RGD:621008 ABI1 603050 HGNC:11320 "ENST00000376140.4|NM_001012750.3" HGNC:20035 ABI1P1 abl interactor 1 pseudogene 1 pseudogene pseudogene Approved 14q22.3 14q22.3 "SSH3BP1P|ABI1P" "spectrin SH3 domain binding protein 1 pseudogene|abl-interactor 1 pseudogene" 2003-01-13 2010-01-12 2016-05-26 2018-05-23 326268 ENSG00000271484 OTTHUMG00000184542 NG_002531 PGOHUM00000292672 HGNC:20035 -HGNC:24011 ABI2 abl interactor 2 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "ABI-2|AIP-1|ABI2B|AblBP3|argBPIA|SSH3BP2" abl-interactor 2 SCAR/WAVE complex 1793 2004-03-11 2016-05-26 2023-03-15 10152 ENSG00000138443 OTTHUMG00000132879 uc002uzz.5 AF260261 NM_005759 "CCDS92933|CCDS92932|CCDS63093|CCDS63094|CCDS2358" Q9NYB9 "7590236|10964520" MGI:106913 RGD:628771 606442 HGNC:24011 "ENST00000261018.12|NM_001375670.1" +HGNC:24011 ABI2 abl interactor 2 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "ABI-2|AIP-1|ABI2B|AblBP3|argBPIA|SSH3BP2" abl-interactor 2 SCAR/WAVE complex 1793 2004-03-11 2016-05-26 2023-03-15 10152 ENSG00000138443 OTTHUMG00000132879 uc002uzz.5 AF260261 NM_005759 "CCDS2358|CCDS92932|CCDS92933|CCDS63094|CCDS63093" Q9NYB9 "7590236|10964520" MGI:106913 RGD:628771 606442 HGNC:24011 "ENST00000261018.12|NM_001375670.1" HGNC:29859 ABI3 ABI family member 3 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "NESH|SSH3BP3" ABI family, member 3 2004-03-11 2015-11-18 2023-01-20 51225 ENSG00000108798 OTTHUMG00000161306 uc002iop.1 AB037886 NM_016428 "CCDS45725|CCDS11546" Q9P2A4 "10978530|11956071" MGI:1913860 RGD:1311794 606363 HGNC:29859 "ENST00000225941.6|NM_016428.3" -HGNC:17265 ABI3BP ABI family member 3 binding protein protein-coding gene gene with protein product Approved 3q12.2 03q12.2 "NESHBP|DKFZP586L2024|TARSH" target of Nesh-SH3 ABI family, member 3 (NESH) binding protein Fibronectin type III domain containing 555 2004-11-30 2015-11-17 2023-01-20 25890 ENSG00000154175 OTTHUMG00000159094 uc003dun.4 AB056106 NM_001349329 "CCDS93333|CCDS46880|CCDS93334|CCDS93332" Q7Z7G0 11501947 MGI:2444583 RGD:1562717 606279 HGNC:17265 "ENST00000471714.6|NM_001375547.2" +HGNC:17265 ABI3BP ABI family member 3 binding protein protein-coding gene gene with protein product Approved 3q12.2 03q12.2 "NESHBP|DKFZP586L2024|TARSH" target of Nesh-SH3 ABI family, member 3 (NESH) binding protein Fibronectin type III domain containing 555 2004-11-30 2015-11-17 2023-01-20 25890 ENSG00000154175 OTTHUMG00000159094 uc003dun.4 AB056106 NM_001349329 "CCDS93334|CCDS46880|CCDS93333|CCDS93332" Q7Z7G0 11501947 MGI:2444583 RGD:1562717 606279 HGNC:17265 "ENST00000471714.6|NM_001375547.2" HGNC:1364 ABITRAM actin binding transcription modulator protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "CG-8|FLJ20457|Simiate" "C9orf6|FAM206A" "chromosome 9 open reading frame 6|family with sequence similarity 206, member A|family with sequence similarity 206 member A" 1999-06-02 2019-01-11 2019-01-11 2023-01-20 54942 ENSG00000119328 OTTHUMG00000020467 uc004bdn.4 BC015795 NM_017832 "CCDS94453|CCDS6774" Q9NX38 "24349419|24782708" MGI:2677850 RGD:1594560 620392 HGNC:1364 "ENST00000322940.11|NM_017832.4" HGNC:39851 ABITRAMP1 ABITRAM pseudogene 1 pseudogene pseudogene Approved 13q14.13 13q14.13 FAM206BP "family with sequence similarity 206, member B, pseudogene|family with sequence similarity 206 member B, pseudogene" 2011-08-15 2019-01-11 2019-01-11 2019-01-11 390403 ENSG00000251106 OTTHUMG00000016869 NG_011392 HGNC:39851 HGNC:76 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase protein-coding gene gene with protein product Approved 9q34.12 09q34.12 "JTK7|c-ABL|p150" ABL "v-abl Abelson murine leukemia viral oncogene homolog 1|c-abl oncogene 1, receptor tyrosine kinase|c-abl oncogene 1, non-receptor tyrosine kinase" "SH2 domain containing|Abl family tyrosine kinases" "741|1463" 1986-01-01 2014-06-26 2023-01-20 25 ENSG00000097007 OTTHUMG00000020813 uc004bzv.4 M14752 NM_007313 "CCDS35166|CCDS35165" P00519 "1857987|12626632" MGI:87859 RGD:1584969 LRG_769|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_769.xml ABL1 189980 117691 objectId:1923 HGNC:76 "ENST00000318560.6|NM_005157.6" HGNC:76 -HGNC:77 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase protein-coding gene gene with protein product Approved 1q25.2 01q25.2 ARG Abelson-related gene ABLL "v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)|v-abl Abelson murine leukemia viral oncogene homolog 2|c-abl oncogene 2, non-receptor tyrosine kinase" "SH2 domain containing|Abl family tyrosine kinases" "741|1463" 1986-01-01 2014-06-26 2023-03-15 27 ENSG00000143322 OTTHUMG00000035199 uc001gmj.5 M14904 NM_005158 "CCDS30947|CCDS53435|CCDS53436|CCDS53437|CCDS44282|CCDS53438|CCDS41441" P42684 3787260 MGI:87860 RGD:1590898 ABL2 164690 objectId:1924 HGNC:77 "ENST00000502732.6|NM_007314.4" -HGNC:78 ABLIM1 actin binding LIM protein 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "abLIM|limatin" "LIMAB1|ABLIM" LIM domain containing 1218 1997-10-10 2002-09-13 2023-01-20 3983 ENSG00000099204 OTTHUMG00000019088 uc057wcy.1 AF005654 NM_001003407 "CCDS7590|CCDS31289|CCDS81508|CCDS81509|CCDS31288" O14639 9245787 MGI:1194500 RGD:1565768 602330 HGNC:78 "ENST00000533213.7|NM_002313.7" -HGNC:19195 ABLIM2 actin binding LIM protein family member 2 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 KIAA1808 "actin binding LIM protein 2|actin binding LIM protein family, member 2" "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2002-09-19 2015-11-18 2023-01-20 84448 ENSG00000163995 OTTHUMG00000057427 uc003gkj.5 AB058711 NM_001130083 "CCDS68669|CCDS47014|CCDS47013|CCDS47011|CCDS47012|CCDS47015|CCDS47016|CCDS54719" Q6H8Q1 16005990 MGI:2385758 RGD:1303094 612544 HGNC:19195 "ENST00000447017.7|NM_001130083.2" -HGNC:29132 ABLIM3 actin binding LIM protein family member 3 protein-coding gene gene with protein product Approved 5q32 05q32 KIAA0843 actin binding LIM protein family, member 3 LIM domain containing 1218 2004-01-22 2015-11-18 2023-01-20 22885 ENSG00000173210 OTTHUMG00000129932 uc003lpy.3 AB020650 NM_014945 "CCDS78071|CCDS87335|CCDS4294|CCDS78069" O94929 "16328021|20709423" MGI:2442582 RGD:1565118 611305 HGNC:29132 "ENST00000309868.12|NM_014945.5" +HGNC:77 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase protein-coding gene gene with protein product Approved 1q25.2 01q25.2 ARG Abelson-related gene ABLL "v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)|v-abl Abelson murine leukemia viral oncogene homolog 2|c-abl oncogene 2, non-receptor tyrosine kinase" "SH2 domain containing|Abl family tyrosine kinases" "741|1463" 1986-01-01 2014-06-26 2023-03-15 27 ENSG00000143322 OTTHUMG00000035199 uc001gmj.5 M14904 NM_005158 "CCDS53438|CCDS53435|CCDS44282|CCDS30947|CCDS53437|CCDS53436|CCDS41441" P42684 3787260 MGI:87860 RGD:1590898 ABL2 164690 objectId:1924 HGNC:77 "ENST00000502732.6|NM_007314.4" +HGNC:78 ABLIM1 actin binding LIM protein 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "abLIM|limatin" "LIMAB1|ABLIM" LIM domain containing 1218 1997-10-10 2002-09-13 2023-01-20 3983 ENSG00000099204 OTTHUMG00000019088 uc057wcy.1 AF005654 NM_001003407 "CCDS7590|CCDS31289|CCDS31288|CCDS81509|CCDS81508" O14639 9245787 MGI:1194500 RGD:1565768 602330 HGNC:78 "ENST00000533213.7|NM_002313.7" +HGNC:19195 ABLIM2 actin binding LIM protein family member 2 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 KIAA1808 "actin binding LIM protein 2|actin binding LIM protein family, member 2" "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2002-09-19 2015-11-18 2023-01-20 84448 ENSG00000163995 OTTHUMG00000057427 uc003gkj.5 AB058711 NM_001130083 "CCDS54719|CCDS47011|CCDS47013|CCDS47016|CCDS47014|CCDS68669|CCDS47012|CCDS47015" Q6H8Q1 16005990 MGI:2385758 RGD:1303094 612544 HGNC:19195 "ENST00000447017.7|NM_001130083.2" +HGNC:29132 ABLIM3 actin binding LIM protein family member 3 protein-coding gene gene with protein product Approved 5q32 05q32 KIAA0843 actin binding LIM protein family, member 3 LIM domain containing 1218 2004-01-22 2015-11-18 2023-01-20 22885 ENSG00000173210 OTTHUMG00000129932 uc003lpy.3 AB020650 NM_014945 "CCDS87335|CCDS78069|CCDS78071|CCDS4294" O94929 "16328021|20709423" MGI:2442582 RGD:1565118 611305 HGNC:29132 "ENST00000309868.12|NM_014945.5" HGNC:79 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "A3GALNT|A3GALT1" ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) "Glycosyltransferase family 6|Blood group antigens" "429|454" 1986-01-01 2016-10-13 2021-05-26 28 ENSG00000175164 OTTHUMG00000020872 uc064wua.1 AF134415 NM_020469 P16442 184030 MGI:2135738 RGD:2307241 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_792|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_792.xml" 110300 "2.4.1.40|2.4.1.37" HGNC:79 -HGNC:81 ABR ABR activator of RhoGEF and GTPase protein-coding gene gene with protein product Approved 17p13.3 17p13.3 MDB "active BCR-related gene|ABR, RhoGEF and GTPase activating protein" "Pleckstrin homology domain containing|Dbl family Rho GEFs|C2 domain containing|MicroRNA protein coding host genes" "682|722|823|1691" 1990-04-11 2019-01-25 2023-01-20 29 ENSG00000159842 OTTHUMG00000090313 uc002fsd.6 L19704 NM_001092 "CCDS92217|CCDS54060|CCDS73936|CCDS10999|CCDS58497|CCDS11000" Q12979 "2587217|7479768|17116687" MGI:107771 RGD:1306279 600365 HGNC:81 "ENST00000302538.10|NM_021962.5" +HGNC:81 ABR ABR activator of RhoGEF and GTPase protein-coding gene gene with protein product Approved 17p13.3 17p13.3 MDB "active BCR-related gene|ABR, RhoGEF and GTPase activating protein" "Pleckstrin homology domain containing|Dbl family Rho GEFs|C2 domain containing|MicroRNA protein coding host genes" "682|722|823|1691" 1990-04-11 2019-01-25 2023-01-20 29 ENSG00000159842 OTTHUMG00000090313 uc002fsd.6 L19704 NM_001092 "CCDS58497|CCDS73936|CCDS11000|CCDS92217|CCDS54060|CCDS10999" Q12979 "2587217|7479768|17116687" MGI:107771 RGD:1306279 600365 HGNC:81 "ENST00000302538.10|NM_021962.5" HGNC:55674 ABR-AS1 ABR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 Antisense RNAs 1987 2021-07-01 2021-07-01 105371479 ENSG00000235361 XR_934138 HGNC:30655 ABRA actin binding Rho activating protein protein-coding gene gene with protein product Approved 8q23.1 08q23.1 STARS striated muscle activator of Rho-dependent signaling 2006-02-02 2015-04-29 2023-01-20 137735 ENSG00000174429 OTTHUMG00000164809 uc003ymm.5 AF503617 NM_139166 CCDS6305 Q8N0Z2 11983702 MGI:2444891 RGD:708493 609747 HGNC:30655 "ENST00000311955.4|NM_139166.5" HGNC:21230 ABRACL ABRA C-terminal like protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "PRO2013|HSPC280|Costars" C6orf115 chromosome 6 open reading frame 115 2003-05-29 2012-03-05 2012-03-05 2023-01-20 58527 ENSG00000146386 OTTHUMG00000015684 uc003qil.2 BC014953 NM_021243 CCDS43509 Q9P1F3 21082705 MGI:1920362 RGD:1583256 HGNC:21230 "ENST00000367660.4|NM_021243.3" @@ -162,57 +162,57 @@ HGNC:56462 ABRAXAS1P2 ABRAXAS1 pseudogene 2 pseudogene pseudogene Approved 8p22 HGNC:28975 ABRAXAS2 abraxas 2, BRISC complex subunit protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "Em:AC068896.4|ABRO1" Abraxas brother "KIAA0157|FAM175B" "KIAA0157|family with sequence similarity 175, member B|family with sequence similarity 175 member B" BRISC complex 1375 2004-03-16 2017-04-27 2017-04-27 2023-01-20 23172 ENSG00000165660 OTTHUMG00000019218 uc001lib.4 D63877 NM_032182 CCDS31308 Q15018 8590280 MGI:1926116 RGD:1308918 611144 HGNC:28975 "ENST00000298492.6|NM_032182.4" HGNC:17369 ABT1 activator of basal transcription 1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 Esf2 SSU processome 1484 2002-07-23 2023-01-20 29777 ENSG00000146109 OTTHUMG00000016319 uc003nii.4 AB027258 NM_013375 CCDS4616 Q9ULW3 10648625 MGI:1353636 RGD:1310785 618750 HGNC:17369 "ENST00000274849.3|NM_013375.4" HGNC:39557 ABT1P1 activator of basal transcription 1 pseudogene 1 pseudogene pseudogene Approved 4q23 04q23 2011-02-25 2011-02-25 100420695 ENSG00000250496 OTTHUMG00000161229 NG_025142 PGOHUM00000245631 HGNC:39557 -HGNC:18275 ABTB1 ankyrin repeat and BTB domain containing 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "BPOZ|EF1ABP|Btb3|BTBD21" ankyrin repeat and BTB (POZ) domain containing 1 "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2002-03-14 2016-02-12 2023-03-15 80325 ENSG00000114626 OTTHUMG00000159636 uc003ejt.4 AB053324 NM_172027 "CCDS46901|CCDS3045" Q969K4 "10891360|11494141" MGI:1933148 RGD:1359363 608308 HGNC:18275 "ENST00000232744.13|NM_172027.3" +HGNC:18275 ABTB1 ankyrin repeat and BTB domain containing 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "BPOZ|EF1ABP|Btb3|BTBD21" ankyrin repeat and BTB (POZ) domain containing 1 "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2002-03-14 2016-02-12 2023-03-15 80325 ENSG00000114626 OTTHUMG00000159636 uc003ejt.4 AB053324 NM_172027 "CCDS3045|CCDS46901" Q969K4 "10891360|11494141" MGI:1933148 RGD:1359363 608308 HGNC:18275 "ENST00000232744.13|NM_172027.3" HGNC:23842 ABTB2 ankyrin repeat and BTB domain containing 2 protein-coding gene gene with protein product Approved 11p13 11p13 "DKFZP586C1619|BTBD22|ABTB2A" ankyrin repeat and BTB (POZ) domain containing 2 "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2003-12-15 2016-02-12 2023-02-20 25841 ENSG00000166016 OTTHUMG00000044382 uc001mvl.3 AK056863 NM_145804 CCDS7890 Q8N961 MGI:2139365 RGD:620724 HGNC:23842 "ENST00000435224.3|NM_145804.3" -HGNC:23844 ABTB3 ankyrin repeat and BTB domain containing 3 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ33957|ABTB2B" BTBD11 "BTB (POZ) domain containing 11|BTB domain containing 11" "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2003-12-15 2022-05-13 2022-05-13 2023-03-15 121551 ENSG00000151136 OTTHUMG00000150413 uc001tmk.2 AK091276 NM_152322 "CCDS86332|CCDS41827|CCDS31893" A6QL63 MGI:1921257 RGD:1308647 HGNC:23844 "ENST00000280758.10|NM_001018072.2" +HGNC:23844 ABTB3 ankyrin repeat and BTB domain containing 3 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ33957|ABTB2B" BTBD11 "BTB (POZ) domain containing 11|BTB domain containing 11" "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2003-12-15 2022-05-13 2022-05-13 2023-03-15 121551 ENSG00000151136 OTTHUMG00000150413 uc001tmk.2 AK091276 NM_152322 "CCDS41827|CCDS31893|CCDS86332" A6QL63 MGI:1921257 RGD:1308647 HGNC:23844 "ENST00000280758.10|NM_001018072.2" HGNC:82 ACAA1 acetyl-CoA acyltransferase 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 Lnc-Myd88 peroxisomal 3-oxoacyl-Coenzyme A thiolase acetyl-Coenzyme A acyltransferase 1 1989-06-30 2010-04-30 2023-01-20 30 ENSG00000060971 OTTHUMG00000131087 uc003cht.4 X14813 NM_001607 "CCDS46794|CCDS2673" P09110 22151743 "MGI:2148491|MGI:3605455" RGD:67379 604054 469902 2.3.1.16 HGNC:82 "ENST00000333167.13|NM_001607.4" HGNC:83 ACAA2 acetyl-CoA acyltransferase 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 DSAEC mitochondrial 3-oxoacyl-Coenzyme A thiolase acetyl-Coenzyme A acyltransferase 2 1999-09-28 2010-04-30 2023-01-20 10449 ENSG00000167315 OTTHUMG00000132667 uc002ldw.5 D16294 NM_006111 CCDS11939 P42765 8241273 MGI:1098623 RGD:620482 604770 2.3.1.16 HGNC:83 "ENST00000285093.15|NM_006111.3" HGNC:55880 ACAA2P1 ACAA2 pseudogene 1 pseudogene pseudogene Approved Xp11.23 Xp11.23 2021-09-29 2021-09-29 100420869 ENSG00000233585 NG_026698 PGOHUM00000304610 -HGNC:84 ACACA acetyl-CoA carboxylase alpha protein-coding gene gene with protein product Approved 17q12 17q12 "ACC1|ACC-alpha|ACCA|ACCalpha|ACACalpha|Acac1|hACC1" acetyl-CoA carboxylase 1 "ACAC|ACC" acetyl-Coenzyme A carboxylase alpha 1989-09-11 2010-04-30 2023-01-20 31 ENSG00000278540 OTTHUMG00000188463 uc284osy.1 U19822 NM_198836 "CCDS11318|CCDS42302|CCDS42303|CCDS11317" Q13085 9530626 MGI:108451 RGD:621248 200350 objectId:1263 6.4.1.2 HGNC:84 "ENST00000616317.5|NM_198834.3" +HGNC:84 ACACA acetyl-CoA carboxylase alpha protein-coding gene gene with protein product Approved 17q12 17q12 "ACC1|ACC-alpha|ACCA|ACCalpha|ACACalpha|Acac1|hACC1" acetyl-CoA carboxylase 1 "ACAC|ACC" acetyl-Coenzyme A carboxylase alpha 1989-09-11 2010-04-30 2023-01-20 31 ENSG00000278540 OTTHUMG00000188463 uc284osy.1 U19822 NM_198836 "CCDS42303|CCDS11317|CCDS42302|CCDS11318" Q13085 9530626 MGI:108451 RGD:621248 200350 objectId:1263 6.4.1.2 HGNC:84 "ENST00000616317.5|NM_198834.3" HGNC:85 ACACB acetyl-CoA carboxylase beta protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "HACC275|ACC2|ACCB|ACC-beta|ACCbeta|ACACbeta" acetyl-CoA carboxylase 2 acetyl-Coenzyme A carboxylase beta 1996-12-18 2010-04-30 2023-01-20 32 ENSG00000076555 OTTHUMG00000169250 uc001tob.4 U89344 NM_001093 CCDS31898 O00763 "8670171|9284908" MGI:2140940 RGD:620500 601557 objectId:1264 6.4.1.2 HGNC:85 "ENST00000338432.12|NM_001093.4" HGNC:85 HGNC:87 ACAD8 acyl-CoA dehydrogenase family member 8 protein-coding gene gene with protein product Approved 11q25 11q25 isobutyryl-CoA dehydrogenase "acyl-Coenzyme A dehydrogenase family, member 8|acyl-CoA dehydrogenase family, member 8" Acyl-CoA dehydrogenase family 974 2000-01-07 2015-11-18 2023-01-20 27034 ENSG00000151498 OTTHUMG00000167177 uc001qhk.4 AF126245 NM_014384 CCDS8498 Q9UKU7 "10524212|12359132" MGI:1914198 RGD:1564209 LRG_448|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_448.xml 604773 123336 HGNC:87 "ENST00000281182.9|NM_014384.3" HGNC:87 -HGNC:21497 ACAD9 acyl-CoA dehydrogenase family member 9 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "NPD002|MGC14452" "acyl-Coenzyme A dehydrogenase family, member 9|acyl-CoA dehydrogenase family, member 9" "Acyl-CoA dehydrogenase family|Mitochondrial complex I assembly complex" "974|1387" 2003-06-18 2015-11-18 2023-01-20 28976 ENSG00000177646 OTTHUMG00000159942 uc003ela.5 AF078854 NM_014049 "CCDS3053|CCDS93369" Q9H845 "12359260|21057504|20816094" MGI:1914272 RGD:727973 611103 123334 HGNC:21497 "ENST00000308982.12|NM_014049.5" HGNC:21497 +HGNC:21497 ACAD9 acyl-CoA dehydrogenase family member 9 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "NPD002|MGC14452" "acyl-Coenzyme A dehydrogenase family, member 9|acyl-CoA dehydrogenase family, member 9" "Acyl-CoA dehydrogenase family|Mitochondrial complex I assembly complex" "974|1387" 2003-06-18 2015-11-18 2023-01-20 28976 ENSG00000177646 OTTHUMG00000159942 uc003ela.5 AF078854 NM_014049 "CCDS93369|CCDS3053" Q9H845 "12359260|21057504|20816094" MGI:1914272 RGD:727973 611103 123334 HGNC:21497 "ENST00000308982.12|NM_014049.5" HGNC:21497 HGNC:56086 ACAD9-DT ACAD9 divergent transcript non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 Divergent transcripts 1990 2021-12-20 2022-04-25 123706524 ENSG00000287110 XR_007096078 HGNC:21597 ACAD10 acyl-CoA dehydrogenase family member 10 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 MGC5601 "acyl-Coenzyme A dehydrogenase family, member 10|acyl-CoA dehydrogenase family, member 10" Acyl-CoA dehydrogenase family 974 2003-07-17 2015-11-18 2023-03-15 80724 ENSG00000111271 OTTHUMG00000169602 uc009zvx.4 AY323912 NM_025247 "CCDS31903|CCDS44973" Q6JQN1 15560374 MGI:1919235 RGD:1310159 611181 HGNC:21597 "ENST00000313698.9|NM_025247.6" HGNC:30211 ACAD11 acyl-CoA dehydrogenase family member 11 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 FLJ12592 "acyl-Coenzyme A dehydrogenase family, member 11|acyl-CoA dehydrogenase family, member 11" Acyl-CoA dehydrogenase family 974 2006-01-09 2015-11-18 2023-01-20 84129 ENSG00000240303 OTTHUMG00000159780 uc003eov.5 BC019607 NM_032169 CCDS3074 Q709F0 25704813 MGI:2143169 RGD:1306270 614288 HGNC:30211 "ENST00000264990.11|NM_032169.5" HGNC:88 ACADL acyl-CoA dehydrogenase long chain protein-coding gene gene with protein product Approved 2q34 02q34 "LCAD|ACAD4" long-chain acyl-CoA dehydrogenase acyl-Coenzyme A dehydrogenase, long chain Acyl-CoA dehydrogenase family 974 1988-11-07 2017-09-21 2023-01-20 33 ENSG00000115361 OTTHUMG00000132989 uc002vdz.5 M74096 NM_001608 CCDS2389 P28330 1774065 MGI:87866 RGD:2011 609576 159889 1.3.8.8 HGNC:88 "ENST00000233710.4|NM_001608.4" HGNC:88 -HGNC:89 ACADM acyl-CoA dehydrogenase medium chain protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "MCAD|MCADH|ACAD1" medium-chain acyl-CoA dehydrogenase acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain Acyl-CoA dehydrogenase family 974 1986-01-01 2017-09-21 2023-03-15 34 ENSG00000117054 OTTHUMG00000009784 uc001dgw.6 M16827 NM_000016 "CCDS44165|CCDS72807|CCDS668" P11310 3035565 MGI:87867 RGD:2012 LRG_838|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_838.xml 607008 117700 1.3.8.7 HGNC:89 "ENST00000370841.9|NM_000016.6" HGNC:89 +HGNC:89 ACADM acyl-CoA dehydrogenase medium chain protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "MCAD|MCADH|ACAD1" medium-chain acyl-CoA dehydrogenase acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain Acyl-CoA dehydrogenase family 974 1986-01-01 2017-09-21 2023-03-15 34 ENSG00000117054 OTTHUMG00000009784 uc001dgw.6 M16827 NM_000016 "CCDS44165|CCDS668|CCDS72807" P11310 3035565 MGI:87867 RGD:2012 LRG_838|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_838.xml 607008 117700 1.3.8.7 HGNC:89 "ENST00000370841.9|NM_000016.6" HGNC:89 HGNC:90 ACADS acyl-CoA dehydrogenase short chain protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SCAD|ACAD3" acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain Acyl-CoA dehydrogenase family 974 1986-01-01 2017-09-21 2023-01-20 35 ENSG00000122971 OTTHUMG00000169203 uc001tza.5 M26393 NM_000017 "CCDS76610|CCDS9207" P16219 2565344 MGI:87868 RGD:620514 606885 117705 1.3.8.1 HGNC:90 "ENST00000242592.9|NM_000017.4" HGNC:90 HGNC:91 ACADSB acyl-CoA dehydrogenase short/branched chain protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "SBCAD|ACAD7" acyl-Coenzyme A dehydrogenase, short/branched chain Acyl-CoA dehydrogenase family 974 1994-10-14 2017-09-21 2023-01-20 36 ENSG00000196177 OTTHUMG00000019200 uc001lhb.4 U12778 NM_001609 "CCDS7634|CCDS81518" P45954 "7698750|7759115" MGI:1914135 RGD:2013 LRG_451|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_451.xml 600301 117709 1.3.99.- HGNC:91 "ENST00000358776.7|NM_001609.4" HGNC:91 -HGNC:92 ACADVL acyl-CoA dehydrogenase very long chain protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "VLCAD|LCACD|ACAD6" acyl-Coenzyme A dehydrogenase, very long chain Acyl-CoA dehydrogenase family 974 1996-05-30 2017-09-21 2023-01-20 37 ENSG00000072778 OTTHUMG00000102157 uc002gev.5 BC012912 NM_000018 "CCDS58509|CCDS42249|CCDS11090" P49748 8921384 MGI:895149 RGD:2014 609575 117713 HGNC:92 "ENST00000356839.10|NM_000018.4" HGNC:92 -HGNC:319 ACAN aggrecan protein-coding gene gene with protein product Approved 15q26.1 15q26.1 CSPGCP aggrecan proteoglycan "MSK16|CSPG1|AGC1" "chondroitin sulfate proteoglycan 1|aggrecan 1" "Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing" "574|590|1179|1298" 1992-06-17 2007-02-16 2007-02-16 2023-01-20 176 ENSG00000157766 OTTHUMG00000171989 uc010upo.1 M55172 NM_001135 "CCDS53971|CCDS92056|CCDS92054|CCDS92055|CCDS53970" P16112 1985970 MGI:99602 RGD:68358 155760 117718 HGNC:319 "ENST00000560601.4|NM_001369268.1" HGNC:319 +HGNC:92 ACADVL acyl-CoA dehydrogenase very long chain protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "VLCAD|LCACD|ACAD6" acyl-Coenzyme A dehydrogenase, very long chain Acyl-CoA dehydrogenase family 974 1996-05-30 2017-09-21 2023-01-20 37 ENSG00000072778 OTTHUMG00000102157 uc002gev.5 BC012912 NM_000018 "CCDS42249|CCDS58509|CCDS11090" P49748 8921384 MGI:895149 RGD:2014 609575 117713 HGNC:92 "ENST00000356839.10|NM_000018.4" HGNC:92 +HGNC:319 ACAN aggrecan protein-coding gene gene with protein product Approved 15q26.1 15q26.1 CSPGCP aggrecan proteoglycan "MSK16|CSPG1|AGC1" "chondroitin sulfate proteoglycan 1|aggrecan 1" "Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing" "574|590|1179|1298" 1992-06-17 2007-02-16 2007-02-16 2023-01-20 176 ENSG00000157766 OTTHUMG00000171989 uc010upo.1 M55172 NM_001135 "CCDS53971|CCDS92056|CCDS92054|CCDS53970|CCDS92055" P16112 1985970 MGI:99602 RGD:68358 155760 117718 HGNC:319 "ENST00000560601.4|NM_001369268.1" HGNC:319 HGNC:16467 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KIAA0050 CENTB1 centaurin, beta 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-09-03 2008-09-22 2008-09-22 2023-01-20 9744 ENSG00000072818 OTTHUMG00000102199 uc002ggd.3 D30758 NM_014716 CCDS11101 Q15027 "11050434|11062263" MGI:2388270 RGD:1305360 607763 HGNC:16467 "ENST00000158762.8|NM_014716.4" HGNC:16469 ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 protein-coding gene gene with protein product Approved 3q29 03q29 "KIAA0041|CNT-B2" CENTB2 centaurin, beta 2 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-09-03 2008-09-22 2008-09-22 2023-01-20 23527 ENSG00000114331 OTTHUMG00000155885 uc003fun.5 NM_012287 CCDS33924 Q15057 "11050434|11062263" MGI:1925868 RGD:1562939 607766 HGNC:16469 "ENST00000326793.11|NM_012287.6" HGNC:41426 ACAP2-IT1 ACAP2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 ACAP2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-04 2015-02-25 2015-02-25 100874306 ENSG00000229325 OTTHUMG00000155905 uc062rqs.1 ACAP2-IT1 HGNC:16754 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 KIAA1716 CENTB5 centaurin, beta 5 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing|MicroRNA protein coding host genes" "395|403|1291|1691" 2001-10-29 2008-09-22 2008-09-22 2023-01-20 116983 ENSG00000131584 OTTHUMG00000002235 uc001aeb.3 AF411981 NM_030649 CCDS19 Q96P50 "27330119|28919417" MGI:2153589 RGD:1310711 HGNC:16754 "ENST00000354700.10|NM_030649.3" -HGNC:93 ACAT1 acetyl-CoA acetyltransferase 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 THIL acetoacetyl Coenzyme A thiolase ACAT acetyl-Coenzyme A acetyltransferase 1 1991-08-12 2010-04-30 2023-01-20 38 ENSG00000075239 OTTHUMG00000166381 uc001pjy.4 D90228 NM_000019 "CCDS8339|CCDS91581|CCDS91579|CCDS91580" P24752 1979337 MGI:87870 RGD:2016 LRG_1400|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1400.xml 607809 117724 objectId:2435 2.3.1.9 HGNC:93 "ENST00000265838.9|NM_000019.4" HGNC:93 +HGNC:93 ACAT1 acetyl-CoA acetyltransferase 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 THIL acetoacetyl Coenzyme A thiolase ACAT acetyl-Coenzyme A acetyltransferase 1 1991-08-12 2010-04-30 2023-01-20 38 ENSG00000075239 OTTHUMG00000166381 uc001pjy.4 D90228 NM_000019 "CCDS8339|CCDS91581|CCDS91580|CCDS91579" P24752 1979337 MGI:87870 RGD:2016 LRG_1400|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1400.xml 607809 117724 objectId:2435 2.3.1.9 HGNC:93 "ENST00000265838.9|NM_000019.4" HGNC:93 HGNC:94 ACAT2 acetyl-CoA acetyltransferase 2 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "acetoacetyl Coenzyme A thiolase|Acetyl-CoA acetyltransferase, cytosolic" "acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)|acetyl-Coenzyme A acetyltransferase 2" 1994-04-15 2010-04-30 2023-01-20 39 ENSG00000120437 OTTHUMG00000015935 uc010kjy.4 AF356877 NM_005891 CCDS5268 Q9BWD1 "2475872|8812443" "MGI:87871|MGI:109182" RGD:1359366 100678 objectId:2436 2.3.1.9 HGNC:94 "ENST00000367048.5|NM_005891.3" HGNC:94 HGNC:15453 ACBD3 acyl-CoA binding domain containing 3 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "GCP60|PAP7" PBR- and PKA-associated protein 7 "GOLPH1|GOCAP1" "golgi complex associated protein 1, 60kDa|acyl-Coenzyme A binding domain containing 3" A-kinase anchoring proteins 396 2001-04-27 2003-11-12 2010-04-30 2023-01-20 64746 ENSG00000182827 OTTHUMG00000037560 uc001hpy.4 AB043587 NM_022735 CCDS1551 Q9H3P7 "12692076|20150326" MGI:2181074 RGD:727851 606809 HGNC:15453 "ENST00000366812.6|NM_022735.4" HGNC:40701 ACBD3-AS1 ACBD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 RP11-275I14.4 Antisense RNAs 1987 2016-11-11 2017-09-21 107985353 ENSG00000234478 OTTHUMG00000041339 AW511419 NR_146443 28881755 HGNC:40701 -HGNC:23337 ACBD4 acyl-CoA binding domain containing 4 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ13322 acyl-Coenzyme A binding domain containing 4 2003-11-11 2010-04-30 2023-01-20 79777 ENSG00000181513 OTTHUMG00000180111 uc002iic.4 BC029164 NM_024722 "CCDS45711|CCDS42348|CCDS45710|CCDS92338" Q8NC06 28463579 MGI:1914381 RGD:1308404 619968 HGNC:23337 "ENST00000321854.13|NM_001135705.3" -HGNC:23338 ACBD5 acyl-CoA binding domain containing 5 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "DKFZp434A2417|KIAA1996" acyl-Coenzyme A binding domain containing 5 2003-11-11 2010-04-30 2023-01-20 91452 ENSG00000107897 OTTHUMG00000017854 uc001ito.4 AF505653 NM_145698 "CCDS91230|CCDS91227|CCDS91229|CCDS86078|CCDS44368|CCDS73079|CCDS76290|CCDS7154|CCDS91226" Q5T8D3 12056414 MGI:1921409 RGD:1309411 616618 469904 HGNC:23338 "ENST00000396271.8|NM_145698.5" HGNC:23338 +HGNC:23337 ACBD4 acyl-CoA binding domain containing 4 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ13322 acyl-Coenzyme A binding domain containing 4 2003-11-11 2010-04-30 2023-01-20 79777 ENSG00000181513 OTTHUMG00000180111 uc002iic.4 BC029164 NM_024722 "CCDS42348|CCDS45710|CCDS45711|CCDS92338" Q8NC06 28463579 MGI:1914381 RGD:1308404 619968 HGNC:23337 "ENST00000321854.13|NM_001135705.3" +HGNC:23338 ACBD5 acyl-CoA binding domain containing 5 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "DKFZp434A2417|KIAA1996" acyl-Coenzyme A binding domain containing 5 2003-11-11 2010-04-30 2023-01-20 91452 ENSG00000107897 OTTHUMG00000017854 uc001ito.4 AF505653 NM_145698 "CCDS91229|CCDS44368|CCDS76290|CCDS7154|CCDS91230|CCDS91226|CCDS86078|CCDS91227|CCDS73079" Q5T8D3 12056414 MGI:1921409 RGD:1309411 616618 469904 HGNC:23338 "ENST00000396271.8|NM_145698.5" HGNC:23338 HGNC:23339 ACBD6 acyl-CoA binding domain containing 6 protein-coding gene gene with protein product Approved 1q25.2-q25.3 01q25.2-q25.3 MGC2404 acyl-Coenzyme A binding domain containing 6 "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2003-11-11 2010-04-30 2023-01-20 84320 ENSG00000230124 OTTHUMG00000035117 uc001gog.4 BC006505 NM_032360 CCDS1339 Q9BR61 18268358 MGI:1919732 RGD:1305030 616352 HGNC:23339 "ENST00000367595.4|NM_032360.4" HGNC:23339 HGNC:17715 ACBD7 acyl-CoA binding domain containing 7 protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ38219|bA455B2.2" acyl-Coenzyme A binding domain containing 7 2004-05-27 2010-04-30 2023-01-20 414149 ENSG00000176244 OTTHUMG00000017725 uc001inv.4 AK095538 NM_001039844 CCDS31153 Q8N6N7 28690493 MGI:1925495 RGD:1564164 HGNC:17715 "ENST00000356189.6|NM_001039844.3" HGNC:23989 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "PHACS|ACS" 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 2008-01-25 2015-11-04 2023-01-20 84680 ENSG00000110455 OTTHUMG00000166427 uc001mxx.3 AY026508 NM_032592 CCDS7907 Q96QU6 11470512 MGI:1919717 RGD:1309314 608405 HGNC:23989 "ENST00000263776.9|NM_032592.4" HGNC:34391 ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like protein-coding gene gene with protein product Approved 11p11.2 11p11.2 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 2008-11-26 2016-06-21 2023-01-20 390110 ENSG00000205126 OTTHUMG00000166426 uc001mxw.1 NM_001031854 CCDS41636 Q4AC99 MGI:3584519 RGD:1596039 HGNC:34391 "ENST00000378832.1|NM_001031854.2" -HGNC:25070 ACD ACD shelterin complex subunit and telomerase recruitment factor protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "Ptop|Pip1|Tpp1|Tint1" "TIN2 interacting protein 1|POT1 and TIN2 organizing protein" adrenocortical dysplasia homolog (mouse) Shelterin complex 1334 2005-01-04 2019-01-18 2023-01-20 65057 ENSG00000102977 OTTHUMG00000137547 uc002etp.5 AF070535 NM_022914 "CCDS42181|CCDS10842|CCDS92179" Q96AP0 "15231715|15181449" MGI:87873 RGD:1565053 LRG_1237|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1237.xml 609377 419358 HGNC:25070 "ENST00000620761.6|NM_001082486.2" HGNC:25070 -HGNC:2707 ACE angiotensin I converting enzyme protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "ACE1|CD143" peptidyl-dipeptidase A DCP1 angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 CD molecules 471 1989-06-06 2013-06-12 2023-01-20 1636 ENSG00000159640 OTTHUMG00000154927 uc002jau.4 J04144 NM_000789 "CCDS11637|CCDS45755|CCDS54155" P12821 "2554286|10319862" MGI:87874 RGD:2493 106180 117728 XM02-001 objectId:1613 CD143 3.4.15.1 HGNC:2707 "ENST00000290866.10|NM_000789.4" HGNC:2707 -HGNC:13557 ACE2 angiotensin converting enzyme 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 ACEH peptidyl-dipeptidase A "angiotensin I converting enzyme (peptidyl-dipeptidase A) 2|angiotensin I converting enzyme 2" 2000-09-25 2021-01-13 2023-01-20 59272 ENSG00000130234 OTTHUMG00000021177 uc004cxb.2 AF291820 NM_001371415 "CCDS94556|CCDS14169|CCDS94557" Q9BYF1 10969042 MGI:1917258 RGD:728890 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACE2 300335 M02.006 objectId:1614 3.4.17.23 HGNC:13557 "ENST00000252519.8|NM_001371415.1" +HGNC:25070 ACD ACD shelterin complex subunit and telomerase recruitment factor protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "Ptop|Pip1|Tpp1|Tint1" "TIN2 interacting protein 1|POT1 and TIN2 organizing protein" adrenocortical dysplasia homolog (mouse) Shelterin complex 1334 2005-01-04 2019-01-18 2023-01-20 65057 ENSG00000102977 OTTHUMG00000137547 uc002etp.5 AF070535 NM_022914 "CCDS10842|CCDS42181|CCDS92179" Q96AP0 "15231715|15181449" MGI:87873 RGD:1565053 LRG_1237|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1237.xml 609377 419358 HGNC:25070 "ENST00000620761.6|NM_001082486.2" HGNC:25070 +HGNC:2707 ACE angiotensin I converting enzyme protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "ACE1|CD143" peptidyl-dipeptidase A DCP1 angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 CD molecules 471 1989-06-06 2013-06-12 2023-01-20 1636 ENSG00000159640 OTTHUMG00000154927 uc002jau.4 J04144 NM_000789 "CCDS54155|CCDS45755|CCDS11637" P12821 "2554286|10319862" MGI:87874 RGD:2493 106180 117728 XM02-001 objectId:1613 CD143 3.4.15.1 HGNC:2707 "ENST00000290866.10|NM_000789.4" HGNC:2707 +HGNC:13557 ACE2 angiotensin converting enzyme 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 ACEH peptidyl-dipeptidase A "angiotensin I converting enzyme (peptidyl-dipeptidase A) 2|angiotensin I converting enzyme 2" 2000-09-25 2021-01-13 2023-01-20 59272 ENSG00000130234 OTTHUMG00000021177 uc004cxb.2 AF291820 NM_001371415 "CCDS94556|CCDS94557|CCDS14169" Q9BYF1 10969042 MGI:1917258 RGD:728890 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACE2 300335 M02.006 objectId:1614 3.4.17.23 HGNC:13557 "ENST00000252519.8|NM_001371415.1" HGNC:56255 ACE2-DT ACE2 divergent transcript non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 GS1-594A7.3 Divergent transcripts 1990 2022-06-29 2022-06-29 104798195 ENSG00000225833 NR_126564 35106622 HGNC:44365 ACE3P angiotensin I converting enzyme 3, pseudogene pseudogene pseudogene Approved 17q23.3 17q23.3 peptidyl-dipeptidase A, pseudogene angiotensin I converting enzyme (peptidyl-dipeptidase A) 3, pseudogene 2012-08-22 2016-06-27 2016-06-27 100129123 ENSG00000224353 OTTHUMG00000155913 NG_016186 17597519 MGI:3644400 HGNC:44365 HGNC:18356 ACER1 alkaline ceramidase 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ASAH3 N-acylsphingosine amidohydrolase (alkaline ceramidase) 3 Alkaline ceramidases 400 2003-09-29 2008-12-19 2008-12-19 2023-01-20 125981 ENSG00000167769 OTTHUMG00000180777 uc002mel.3 AF347024 NM_133492 CCDS12161 Q8TDN7 12783875 MGI:2181962 RGD:1588582 613491 objectId:2468 3.5.1.23 HGNC:18356 "ENST00000301452.5|NM_133492.3" HGNC:23675 ACER2 alkaline ceramidase 2 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 "FLJ41587|ALKCDase2" ASAH3L N-acylsphingosine amidohydrolase 3-like Alkaline ceramidases 400 2004-05-28 2008-12-19 2008-12-19 2023-01-20 340485 ENSG00000177076 OTTHUMG00000019644 uc003zny.2 AK123581 NM_001010887 CCDS34992 Q5QJU3 18945876 MGI:1920932 RGD:1304629 613492 objectId:2469 3.5.1.23 HGNC:23675 "ENST00000340967.3|NM_001010887.3" HGNC:54674 ACER2P1 ACER2 pseudogene 1 pseudogene pseudogene Approved 2q33.3 02q33.3 2019-11-27 2020-01-21 645978 ENSG00000180105 NG_030142 -HGNC:16066 ACER3 alkaline ceramidase 3 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "FLJ11238|APHC" alkaline phytoceramidase PHCA phytoceramidase, alkaline Alkaline ceramidases 400 2002-01-03 2008-12-19 2008-12-19 2023-01-20 55331 ENSG00000078124 OTTHUMG00000165225 uc009yum.2 AF214454 NM_018367 "CCDS76454|CCDS73352|CCDS8247" Q9NUN7 "11356846|18619555" MGI:1913440 RGD:1561254 617036 objectId:2470 3.5.1.23 HGNC:16066 "ENST00000532485.6|NM_018367.7" -HGNC:108 ACHE acetylcholinesterase (Cartwright blood group) protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Yt blood group YT "acetylcholinesterase (YT blood group)|acetylcholinesterase (Yt blood group)" Blood group antigens 454 1989-06-02 2016-03-30 2023-01-20 43 ENSG00000087085 OTTHUMG00000157033 uc003uxi.4 NM_015831 "CCDS5710|CCDS64736|CCDS5709" P22303 1380483 MGI:87876 RGD:69313 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_804|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_804.xml" 100740 S09.979 objectId:2465 3.1.1.7 HGNC:108 "ENST00000241069.11|NM_000665.5" -HGNC:17066 ACIN1 apoptotic chromatin condensation inducer 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA0670|fSAP152" functional spliceosome-associated protein 152 ACINUS apoptotic chromatin condensation inducer in the nucleus ASAP complex 1236 2003-01-14 2004-04-01 2004-03-31 2023-01-20 22985 ENSG00000100813 OTTHUMG00000028716 uc001wit.5 AB014570 NM_014977 "CCDS53887|CCDS53889|CCDS91850|CCDS53888|CCDS55905|CCDS9587" Q9UKV3 "9734811|10490026" MGI:1891824 RGD:1311945 604562 HGNC:17066 "ENST00000605057.6|NM_001386863.1" -HGNC:4035 ACKR1 atypical chemokine receptor 1 (Duffy blood group) protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "CCBP1|GPD|Dfy|CD234" "atypical chemokine receptor 1|glycoprotein D" "FY|DARC" "Duffy blood group|Duffy blood group, chemokine receptor|Duffy blood group, atypical chemokine receptor" "Blood group antigens|CD molecules|Atypical chemokine receptors" "454|471|1090" 2001-06-22 2014-04-04 2014-04-04 2023-01-20 2532 ENSG00000213088 OTTHUMG00000037182 U01839 NM_002036 "CCDS1183|CCDS44252" Q16570 "8248172|7663520|16148" MGI:1097689 RGD:1596198 LRG_801|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_801.xml 613665 objectId:316 CD234 HGNC:4035 "ENST00000368122.4|NM_002036.4" +HGNC:16066 ACER3 alkaline ceramidase 3 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "FLJ11238|APHC" alkaline phytoceramidase PHCA phytoceramidase, alkaline Alkaline ceramidases 400 2002-01-03 2008-12-19 2008-12-19 2023-01-20 55331 ENSG00000078124 OTTHUMG00000165225 uc009yum.2 AF214454 NM_018367 "CCDS76454|CCDS8247|CCDS73352" Q9NUN7 "11356846|18619555" MGI:1913440 RGD:1561254 617036 objectId:2470 3.5.1.23 HGNC:16066 "ENST00000532485.6|NM_018367.7" +HGNC:108 ACHE acetylcholinesterase (Cartwright blood group) protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Yt blood group YT "acetylcholinesterase (YT blood group)|acetylcholinesterase (Yt blood group)" Blood group antigens 454 1989-06-02 2016-03-30 2023-01-20 43 ENSG00000087085 OTTHUMG00000157033 uc003uxi.4 NM_015831 "CCDS5710|CCDS5709|CCDS64736" P22303 1380483 MGI:87876 RGD:69313 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_804|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_804.xml" 100740 S09.979 objectId:2465 3.1.1.7 HGNC:108 "ENST00000241069.11|NM_000665.5" +HGNC:17066 ACIN1 apoptotic chromatin condensation inducer 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA0670|fSAP152" functional spliceosome-associated protein 152 ACINUS apoptotic chromatin condensation inducer in the nucleus ASAP complex 1236 2003-01-14 2004-04-01 2004-03-31 2023-01-20 22985 ENSG00000100813 OTTHUMG00000028716 uc001wit.5 AB014570 NM_014977 "CCDS53889|CCDS9587|CCDS53888|CCDS53887|CCDS55905|CCDS91850" Q9UKV3 "9734811|10490026" MGI:1891824 RGD:1311945 604562 HGNC:17066 "ENST00000605057.6|NM_001386863.1" +HGNC:4035 ACKR1 atypical chemokine receptor 1 (Duffy blood group) protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "CCBP1|GPD|Dfy|CD234" "atypical chemokine receptor 1|glycoprotein D" "FY|DARC" "Duffy blood group|Duffy blood group, chemokine receptor|Duffy blood group, atypical chemokine receptor" "Blood group antigens|CD molecules|Atypical chemokine receptors" "454|471|1090" 2001-06-22 2014-04-04 2014-04-04 2023-01-20 2532 ENSG00000213088 OTTHUMG00000037182 U01839 NM_002036 "CCDS44252|CCDS1183" Q16570 "8248172|7663520|16148" MGI:1097689 RGD:1596198 LRG_801|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_801.xml 613665 objectId:316 CD234 HGNC:4035 "ENST00000368122.4|NM_002036.4" HGNC:1565 ACKR2 atypical chemokine receptor 2 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "CCR10|D6|CCR9" "CMKBR9|CCBP2" chemokine binding protein 2 Atypical chemokine receptors 1090 1998-04-28 2013-07-16 2013-07-16 2023-01-20 1238 ENSG00000144648 OTTHUMG00000186377 U94888 NM_001296 CCDS2706 O00590 "9364936|9405404|16148" MGI:1891697 RGD:620323 602648 objectId:314 HGNC:1565 "ENST00000422265.6|NM_001296.5" -HGNC:23692 ACKR3 atypical chemokine receptor 3 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "RDC1|GPR159" "CMKOR1|CXCR7" "chemokine orphan receptor 1|chemokine (C-X-C motif) receptor 7" Atypical chemokine receptors 1090 2003-12-01 2013-07-16 2013-07-16 2023-01-20 57007 ENSG00000144476 OTTHUMG00000133295 BC008459 NM_020311 CCDS2516 P25106 "16107333|16148" MGI:109562 RGD:620601 ACKR3 610376 469906 objectId:80 HGNC:23692 "ENST00000272928.4|NM_020311.3" +HGNC:23692 ACKR3 atypical chemokine receptor 3 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "RDC1|GPR159" "CMKOR1|CXCR7" "chemokine orphan receptor 1|chemokine (C-X-C motif) receptor 7" Atypical chemokine receptors 1090 2003-12-01 2013-07-16 2013-07-16 2023-06-07 57007 ENSG00000144476 OTTHUMG00000133295 BC008459 NM_020311 CCDS2516 P25106 "16107333|16148" MGI:109562 RGD:620601 ACKR3 610376 469906 objectId:80 HGNC:23692 "ENST00000272928.4|NM_020311.3" HGNC:1611 ACKR4 atypical chemokine receptor 4 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "CCR11|CCBP2|VSHK1|CCX-CKR|PPR1" CCRL1 chemokine (C-C motif) receptor-like 1 Atypical chemokine receptors 1090 1999-02-18 2013-07-16 2013-07-16 2023-01-20 51554 ENSG00000129048 OTTHUMG00000159768 AF110640 NM_016557 CCDS3075 Q9NPB9 "10767544|16148" MGI:2181676 RGD:1596453 606065 objectId:315 HGNC:1611 "ENST00000249887.3|NM_016557.4" HGNC:21142 ACKR4P1 ACKR4 pseudogene 1 pseudogene pseudogene Approved 6q24.1 06q24.1 dJ509I19.4 "CCRL1P|CCRL1P1" "chemokine (C-C motif) receptor-like 1 pseudogene|C-C motif chemokine receptor like 1 pseudogene 1" 2003-11-26 2019-04-15 2019-04-15 2019-04-15 285737 ENSG00000225415 OTTHUMG00000015678 XM_208346 HGNC:21142 HGNC:115 ACLY ATP citrate lyase protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "ATPCL|CLATP|ACL" ATP citrate synthase 1994-04-08 2023-01-20 47 ENSG00000131473 OTTHUMG00000133507 uc002hyg.4 X64330 NM_001096 "CCDS11412|CCDS11413" P53396 "1371749|8088842" MGI:103251 RGD:2018 108728 2.3.3.8 HGNC:115 "ENST00000352035.7|NM_001096.3" -HGNC:19288 ACMSD aminocarboxymuconate semialdehyde decarboxylase protein-coding gene gene with protein product Approved 2q21.3 02q21.3 MicroRNA protein coding host genes 1691 2002-10-08 2023-01-20 130013 ENSG00000153086 OTTHUMG00000131711 uc002ttz.4 AB071418 NM_001307983 "CCDS2173|CCDS77464" Q8TDX5 12140278 MGI:2386323 RGD:620868 608889 4.1.1.45 HGNC:19288 "ENST00000356140.10|NM_138326.3" HGNC:19288 +HGNC:19288 ACMSD aminocarboxymuconate semialdehyde decarboxylase protein-coding gene gene with protein product Approved 2q21.3 02q21.3 MicroRNA protein coding host genes 1691 2002-10-08 2023-01-20 130013 ENSG00000153086 OTTHUMG00000131711 uc002ttz.4 AB071418 NM_001307983 "CCDS77464|CCDS2173" Q8TDX5 12140278 MGI:2386323 RGD:620868 608889 4.1.1.45 HGNC:19288 "ENST00000356140.10|NM_138326.3" HGNC:19288 HGNC:34504 ACNATP acyl-CoA:amino acid N-acyltransferase pseudogene pseudogene pseudogene Approved 9q31.1 09q31.1 acid-CoA: amino acid N-acyltransferase, pseudogene BAATP1 bile acid-CoA:amino acid N-acyltransferase pseudogene 1 2010-09-29 2018-07-18 2018-07-18 2019-12-17 347275 ENSG00000227411 OTTHUMG00000020374 NG_023464 "17116739|18538142" PGOHUM00000304011 HGNC:34504 HGNC:117 ACO1 aconitase 1 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "IRP1|IREBP" "aconitate hydratase, cytoplasmic|soluble aconitase|cytosplasmic aconitase" IREB1 aconitase 1, soluble 1989-01-01 2015-12-01 2023-01-20 48 ENSG00000122729 OTTHUMG00000019740 uc003zqw.5 M58510 NM_002197 CCDS6525 P21399 "2172968|2771641" MGI:87879 RGD:2019 100880 469908 4.2.1.3 HGNC:117 "ENST00000309951.8|NM_002197.3" HGNC:118 ACO2 aconitase 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 ACONM "aconitate hydratase, mitochondrial|mitochondrial aconitase" aconitase 2, mitochondrial 1986-01-01 2015-12-01 2023-01-20 50 ENSG00000100412 OTTHUMG00000030544 uc003bac.3 AH006514 NM_001098 CCDS14017 Q99798 10591208 MGI:87880 RGD:621360 100850 317699 4.2.1.3 HGNC:118 "ENST00000216254.9|NM_001098.3" HGNC:118 @@ -220,21 +220,21 @@ HGNC:33904 ACOD1 aconitate decarboxylase 1 protein-coding gene gene with protein HGNC:33128 ACOT1 acyl-CoA thioesterase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "ACH2|CTE-1|LACH2" Acyl-CoA thioesterases 41 2006-08-30 2023-01-20 641371 ENSG00000184227 OTTHUMG00000171607 uc001xol.2 DQ082754 NM_001037161 CCDS32117 Q86TX2 "16103133|16940157" MGI:1349396 RGD:70894 614313 HGNC:33128 "ENST00000311148.9|NM_001037161.2" HGNC:18431 ACOT2 acyl-CoA thioesterase 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "Mte1|ZAP128" mitochondrial acyl-CoA thioesterase 1 Acyl-CoA thioesterases 41 2005-09-08 2023-01-20 10965 ENSG00000119673 OTTHUMG00000171608 uc059ddl.1 "AY005822|AK001939" NM_006821 CCDS9816 P49753 "16103133|16940157" MGI:2159605 RGD:621055 609972 S09.942 HGNC:18431 "ENST00000238651.10|NM_006821.6" HGNC:19748 ACOT4 acyl-CoA thioesterase 4 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ31235|PTE-Ib|PTE2B" Acyl-CoA thioesterases 41 2005-09-08 2023-01-20 122970 ENSG00000177465 OTTHUMG00000169485 uc001xoo.4 BC031799 NM_152331 CCDS9817 Q8N9L9 "16103133|16940157" MGI:2159621 RGD:1596753 614314 S09.943 HGNC:19748 "ENST00000326303.5|NM_152331.4" -HGNC:33159 ACOT6 acyl-CoA thioesterase 6 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 C14orf42 chromosome 14 open reading frame 42 Acyl-CoA thioesterases 41 2006-10-23 2023-01-20 641372 ENSG00000205669 OTTHUMG00000171609 uc001xop.3 "DQ082756|BF109853" NM_001037162 "CCDS32118|CCDS91900" Q3I5F7 16940157 MGI:1921287 RGD:1309669 614267 S09.944 HGNC:33159 "ENST00000645972.2|NM_001365788.1" -HGNC:24157 ACOT7 acyl-CoA thioesterase 7 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "BACH|ACH1|ACT|CTE-II|LACH1|MGC1126|hBACH" "brain acyl CoA hydrolase|Long chain acyl-CoA thioester hydrolase" Acyl-CoA thioesterases 41 2005-09-07 2023-03-15 11332 ENSG00000097021 OTTHUMG00000001295 uc001ams.4 AB074417 NM_007274 "CCDS66|CCDS30573|CCDS67|CCDS65" O00154 "10578051|16103133|16940157" MGI:1917275 RGD:628856 602587 3.1.2.2 HGNC:24157 "ENST00000361521.9|NM_007274.4" +HGNC:33159 ACOT6 acyl-CoA thioesterase 6 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 C14orf42 chromosome 14 open reading frame 42 Acyl-CoA thioesterases 41 2006-10-23 2023-01-20 641372 ENSG00000205669 OTTHUMG00000171609 uc001xop.3 "DQ082756|BF109853" NM_001037162 "CCDS91900|CCDS32118" Q3I5F7 16940157 MGI:1921287 RGD:1309669 614267 S09.944 HGNC:33159 "ENST00000645972.2|NM_001365788.1" +HGNC:24157 ACOT7 acyl-CoA thioesterase 7 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "BACH|ACH1|ACT|CTE-II|LACH1|MGC1126|hBACH" "brain acyl CoA hydrolase|Long chain acyl-CoA thioester hydrolase" Acyl-CoA thioesterases 41 2005-09-07 2023-03-15 11332 ENSG00000097021 OTTHUMG00000001295 uc001ams.4 AB074417 NM_007274 "CCDS67|CCDS66|CCDS30573|CCDS65" O00154 "10578051|16103133|16940157" MGI:1917275 RGD:628856 602587 3.1.2.2 HGNC:24157 "ENST00000361521.9|NM_007274.4" HGNC:15919 ACOT8 acyl-CoA thioesterase 8 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "hACTE-III|hTE|PTE-2|NAP1" "choloyl-CoA hydrolase|Nef (lentivirus myristoylated factor) associated protein 1" PTE1 "peroxisomal acyl-CoA thioesterase|peroxisomal acyl-CoA thioesterase 1" Acyl-CoA thioesterases 41 2001-08-01 2005-09-19 2005-09-19 2023-03-15 10005 ENSG00000101473 OTTHUMG00000033045 uc002xqa.3 AF014404 NM_183386 CCDS13378 O14734 "10092594|9153233|16103133|16940157" MGI:2158201 RGD:70368 608123 3.1.2.27 HGNC:15919 "ENST00000217455.9|NM_005469.4" -HGNC:17152 ACOT9 acyl-CoA thioesterase 9 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "CGI-16|MT-ACT48|ACATE2" Acyl-CoA thioesterases 41 2005-09-08 2023-01-20 23597 ENSG00000123130 OTTHUMG00000021257 uc004dap.4 AF132950 NM_012332 "CCDS35216|CCDS43924|CCDS83460" Q9Y305 "10383425|10810093|16103133|16940157" MGI:1928939 RGD:1359188 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACOT9 300862 HGNC:17152 "ENST00000379303.10|NM_001037171.2" -HGNC:18156 ACOT11 acyl-CoA thioesterase 11 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "STARD14|BFIT|KIAA0707|BFIT1|THEM1" StAR-related lipid transfer (START) domain containing 14 THEA thioesterase, adipose associated "Acyl-CoA thioesterases|StAR related lipid transfer domain containing" "41|759" 2002-03-11 2005-09-08 2005-09-08 2023-01-20 26027 ENSG00000162390 OTTHUMG00000009891 uc001cxm.3 AB014607 NM_015547 "CCDS593|CCDS592" Q8WXI4 "11696000|16103133|16940157" MGI:1913736 RGD:2324815 606803 3.1.2.- HGNC:18156 "ENST00000343744.7|NM_147161.4" +HGNC:17152 ACOT9 acyl-CoA thioesterase 9 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "CGI-16|MT-ACT48|ACATE2" Acyl-CoA thioesterases 41 2005-09-08 2023-01-20 23597 ENSG00000123130 OTTHUMG00000021257 uc004dap.4 AF132950 NM_012332 "CCDS43924|CCDS83460|CCDS35216" Q9Y305 "10383425|10810093|16103133|16940157" MGI:1928939 RGD:1359188 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACOT9 300862 HGNC:17152 "ENST00000379303.10|NM_001037171.2" +HGNC:18156 ACOT11 acyl-CoA thioesterase 11 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "STARD14|BFIT|KIAA0707|BFIT1|THEM1" StAR-related lipid transfer (START) domain containing 14 THEA thioesterase, adipose associated "Acyl-CoA thioesterases|StAR related lipid transfer domain containing" "41|759" 2002-03-11 2005-09-08 2005-09-08 2023-01-20 26027 ENSG00000162390 OTTHUMG00000009891 uc001cxm.3 AB014607 NM_015547 "CCDS592|CCDS593" Q8WXI4 "11696000|16103133|16940157" MGI:1913736 RGD:2324815 606803 3.1.2.- HGNC:18156 "ENST00000343744.7|NM_147161.4" HGNC:24436 ACOT12 acyl-CoA thioesterase 12 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "Cach|THEAL|STARD15" StAR-related lipid transfer (START) domain containing 15 "Acyl-CoA thioesterases|StAR related lipid transfer domain containing" "41|759" 2005-09-08 2023-01-20 134526 ENSG00000172497 OTTHUMG00000131305 uc003khl.5 AB078619 NM_130767 CCDS4055 Q8WYK0 "16103133|16940157" MGI:1921406 RGD:619752 614315 HGNC:24436 "ENST00000307624.8|NM_130767.3" -HGNC:20999 ACOT13 acyl-CoA thioesterase 13 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 HT012 THEM2 thioesterase superfamily member 2 Acyl-CoA thioesterases 41 2003-05-02 2009-05-05 2009-05-05 2023-01-20 55856 ENSG00000112304 OTTHUMG00000014359 uc003nek.4 AF220186 NM_018473 "CCDS4558|CCDS54972" Q9NPJ3 "16934754|19405909" MGI:1914084 RGD:1306513 615652 HGNC:20999 "ENST00000230048.5|NM_018473.4" -HGNC:119 ACOX1 acyl-CoA oxidase 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 PALMCOX palmitoyl-CoA oxidase "acyl-Coenzyme A oxidase 1, palmitoyl|acyl-CoA oxidase 1, palmitoyl" 1994-02-11 2016-06-01 2023-03-15 51 ENSG00000161533 OTTHUMG00000180027 uc002jqe.5 U03254 NM_001185039 "CCDS11735|CCDS11734" Q15067 8159712 MGI:1330812 RGD:619757 609751 117738 1.3.3.6 HGNC:119 "ENST00000293217.10|NM_004035.7" HGNC:119 +HGNC:20999 ACOT13 acyl-CoA thioesterase 13 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 HT012 THEM2 thioesterase superfamily member 2 Acyl-CoA thioesterases 41 2003-05-02 2009-05-05 2009-05-05 2023-01-20 55856 ENSG00000112304 OTTHUMG00000014359 uc003nek.4 AF220186 NM_018473 "CCDS54972|CCDS4558" Q9NPJ3 "16934754|19405909" MGI:1914084 RGD:1306513 615652 HGNC:20999 "ENST00000230048.5|NM_018473.4" +HGNC:119 ACOX1 acyl-CoA oxidase 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 PALMCOX palmitoyl-CoA oxidase "acyl-Coenzyme A oxidase 1, palmitoyl|acyl-CoA oxidase 1, palmitoyl" 1994-02-11 2016-06-01 2023-03-15 51 ENSG00000161533 OTTHUMG00000180027 uc002jqe.5 U03254 NM_001185039 "CCDS11734|CCDS11735" Q15067 8159712 MGI:1330812 RGD:619757 609751 117738 1.3.3.6 HGNC:119 "ENST00000293217.10|NM_004035.7" HGNC:119 HGNC:120 ACOX2 acyl-CoA oxidase 2 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "BRCACOX|BRCOX|THCCox" "trihydroxycoprostanoyl-CoA oxidase|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase|branched chain acyl-CoA oxidase" "acyl-Coenzyme A oxidase 2, branched chain|acyl-CoA oxidase 2, branched chain" 1998-09-17 2016-06-01 2023-01-20 8309 ENSG00000168306 OTTHUMG00000159154 uc003dkl.4 X95190 NM_003500 CCDS33775 Q99424 "8943006|9070889" MGI:1934852 RGD:628684 601641 469910 1.17.99.3 HGNC:120 "ENST00000302819.10|NM_003500.4" HGNC:120 HGNC:121 ACOX3 acyl-CoA oxidase 3, pristanoyl protein-coding gene gene with protein product Approved 4p16.1 04p16.1 acyl-Coenzyme A oxidase 3, pristanoyl 1998-09-17 2010-04-30 2023-01-20 8310 ENSG00000087008 OTTHUMG00000090509 uc003glc.5 Y11411 NM_001101667 "CCDS3401|CCDS47017" O15254 9271077 MGI:1933156 RGD:69245 603402 1.3.3.6 HGNC:121 "ENST00000356406.10|NM_003501.3" -HGNC:25621 ACOXL acyl-CoA oxidase like protein-coding gene gene with protein product Approved 2q13 02q13 "FLJ11042|ACOX4" acyl-Coenzyme A oxidase-like 2004-02-13 2017-02-20 2023-03-15 55289 ENSG00000153093 OTTHUMG00000131257 uc021vmm.2 NM_018308 "CCDS42730|CCDS92841|CCDS46389" Q9NUZ1 20558530 MGI:1921371 RGD:1306814 HGNC:25621 "ENST00000439055.6|NM_001142807.4" +HGNC:25621 ACOXL acyl-CoA oxidase like protein-coding gene gene with protein product Approved 2q13 02q13 "FLJ11042|ACOX4" acyl-Coenzyme A oxidase-like 2004-02-13 2017-02-20 2023-03-15 55289 ENSG00000153093 OTTHUMG00000131257 uc021vmm.2 NM_018308 "CCDS46389|CCDS42730|CCDS92841" Q9NUZ1 20558530 MGI:1921371 RGD:1306814 HGNC:25621 "ENST00000439055.6|NM_001142807.4" HGNC:41112 ACOXL-AS1 ACOXL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q13 02q13 Antisense RNAs 1987 2016-11-11 2016-11-11 400997 ENSG00000204581 OTTHUMG00000153643 NR_122074 HGNC:41112 -HGNC:122 ACP1 acid phosphatase 1 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "HAAP|LMW-PTP|LMWPTP" "acid phosphatase of erythrocyte|low molecular weight phosphotyrosine protein phosphatase|red cell acid phosphatase" acid phosphatase 1, soluble "Class II Cys-based phosphatases|Acid phosphatases" "712|1071" 1986-01-01 2017-09-15 2023-03-15 52 ENSG00000143727 OTTHUMG00000086933 uc002qwg.4 M87546 NM_004300 "CCDS46217|CCDS1639|CCDS1640" P24666 "457131|1587862|8586411" MGI:87881 RGD:2020 171500 3.1.3.2 HGNC:122 "ENST00000272065.10|NM_004300.4" -HGNC:123 ACP2 acid phosphatase 2, lysosomal protein-coding gene gene with protein product Approved 11p11.2 11p11.2 LAP lysosomal acid phosphatase Acid phosphatases 1071 1986-01-01 2023-03-15 53 ENSG00000134575 OTTHUMG00000166949 uc001nei.3 X15525 NM_001610 "CCDS76404|CCDS7928|CCDS76402|CCDS76403|CCDS91470" P11117 975882 MGI:87882 RGD:2021 171650 3.1.3.2 HGNC:123 "ENST00000672073.1|NM_001610.4" HGNC:123 -HGNC:125 ACP3 acid phosphatase 3 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "ACP-3|PAP|TM-PAP" prostatic acid phosphatase ACPP acid phosphatase, prostate Acid phosphatases 1071 1989-05-30 2019-09-19 2019-09-19 2023-01-20 55 ENSG00000014257 OTTHUMG00000159650 uc010htp.3 NM_001099 "CCDS3073|CCDS46916|CCDS77818" P15309 "1375464|2842184" MGI:1928480 RGD:2023 171790 3.1.3.2 HGNC:125 "ENST00000336375.10|NM_001099.5" +HGNC:122 ACP1 acid phosphatase 1 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "HAAP|LMW-PTP|LMWPTP" "acid phosphatase of erythrocyte|low molecular weight phosphotyrosine protein phosphatase|red cell acid phosphatase" acid phosphatase 1, soluble "Class II Cys-based phosphatases|Acid phosphatases" "712|1071" 1986-01-01 2017-09-15 2023-03-15 52 ENSG00000143727 OTTHUMG00000086933 uc002qwg.4 M87546 NM_004300 "CCDS1640|CCDS1639|CCDS46217" P24666 "457131|1587862|8586411" MGI:87881 RGD:2020 171500 3.1.3.2 HGNC:122 "ENST00000272065.10|NM_004300.4" +HGNC:123 ACP2 acid phosphatase 2, lysosomal protein-coding gene gene with protein product Approved 11p11.2 11p11.2 LAP lysosomal acid phosphatase Acid phosphatases 1071 1986-01-01 2023-03-15 53 ENSG00000134575 OTTHUMG00000166949 uc001nei.3 X15525 NM_001610 "CCDS7928|CCDS76404|CCDS76403|CCDS91470|CCDS76402" P11117 975882 MGI:87882 RGD:2021 171650 3.1.3.2 HGNC:123 "ENST00000672073.1|NM_001610.4" HGNC:123 +HGNC:125 ACP3 acid phosphatase 3 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "ACP-3|PAP|TM-PAP" prostatic acid phosphatase ACPP acid phosphatase, prostate Acid phosphatases 1071 1989-05-30 2019-09-19 2019-09-19 2023-01-20 55 ENSG00000014257 OTTHUMG00000159650 uc010htp.3 NM_001099 "CCDS46916|CCDS3073|CCDS77818" P15309 "1375464|2842184" MGI:1928480 RGD:2023 171790 3.1.3.2 HGNC:125 "ENST00000336375.10|NM_001099.5" HGNC:14376 ACP4 acid phosphatase 4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 testicular acid phosphatase ACPT acid phosphatase, testicular Acid phosphatases 1071 2001-07-13 2017-06-23 2017-06-23 2023-01-20 93650 ENSG00000142513 OTTHUMG00000182961 uc002pta.1 AF321918 NM_033068 CCDS12802 Q9BZG2 11414767 MGI:3644563 RGD:1308270 606362 HGNC:14376 "ENST00000270593.2|NM_033068.3" HGNC:14376 HGNC:124 ACP5 acid phosphatase 5, tartrate resistant protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TRAP|HPAP|TRAcP" "tartrate-resistant acid phosphatase|human purple acid phosphatase" Acid phosphatases 1071 1989-02-23 2023-01-20 54 ENSG00000102575 OTTHUMG00000182036 uc002msi.5 X14618 NM_001111034 CCDS12265 P13686 "8449511|2338077" MGI:87883 RGD:2022 LRG_1218|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1218.xml 171640 259358 3.1.3.2 HGNC:124 "ENST00000648477.1|NM_001611.5" HGNC:124 HGNC:29609 ACP6 acid phosphatase 6, lysophosphatidic protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "LPAP|ACPL1" lysophosphatidic acid phosphatase Acid phosphatases 1071 2004-07-09 2023-01-20 51205 ENSG00000162836 OTTHUMG00000014019 uc001epr.3 BC009965 NM_016361 CCDS928 Q9NPH0 "12010880|10506173" MGI:1931010 RGD:1306336 611471 469912 HGNC:29609 "ENST00000583509.7|NM_016361.5" @@ -242,29 +242,29 @@ HGNC:33781 ACP7 acid phosphatase 7, tartrate resistant (putative) protein-coding HGNC:126 ACR acrosin protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "preproacrosin|acrosin light and heavy chain prepropeptide" 1989-05-19 2012-10-23 2023-01-20 49 ENSG00000100312 OTTHUMG00000150155 uc003bnh.5 CR456366 NM_001097 CCDS14101 P10323 "2298447|12398221" MGI:87884 RGD:2024 102480 S01.223 objectId:2327 3.4.21.10 HGNC:126 "ENST00000216139.10|NM_001097.3" HGNC:17195 ACRBP acrosin binding protein protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "SP32|OY-TES-1|CT23" "proacrosin binding protein sp32|cancer/testis antigen 23" Armadillo like helical domain containing 1492 2001-11-19 2023-01-20 84519 ENSG00000111644 OTTHUMG00000168715 uc001qpu.2 AB051833 NM_032489 CCDS8554 Q8NEB7 11248070 MGI:1859515 RGD:1564880 608352 HGNC:17195 "ENST00000229243.7|NM_032489.3" HGNC:54745 ACRP1 ACR pseudogene 1 pseudogene pseudogene Approved 2q14.1 02q14.1 2019-12-19 2020-01-21 645529 ENSG00000175509 NG_021518 -HGNC:127 ACRV1 acrosomal vesicle protein 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "SPACA2|SP-10|D11S4365" sperm protein 10 1991-06-07 2023-03-15 56 ENSG00000134940 OTTHUMG00000165854 uc001qcs.4 AK223335 NM_001612 "CCDS8461|CCDS44761|CCDS44759|CCDS8460" P26436 "1693291|8288254" MGI:104590 RGD:620153 102525 HGNC:127 "ENST00000533904.6|NM_001612.6" +HGNC:127 ACRV1 acrosomal vesicle protein 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "SPACA2|SP-10|D11S4365" sperm protein 10 1991-06-07 2023-03-15 56 ENSG00000134940 OTTHUMG00000165854 uc001qcs.4 AK223335 NM_001612 "CCDS44761|CCDS8460|CCDS44759|CCDS8461" P26436 "1693291|8288254" MGI:104590 RGD:620153 102525 HGNC:127 "ENST00000533904.6|NM_001612.6" HGNC:29567 ACSBG1 acyl-CoA synthetase bubblegum family member 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "BGM|FLJ30320|MGC14352|BG1|KIAA0631|hBG1|hsBG" "bubblegum|very long-chain acyl-CoA synthetase|lipidosin" Acyl-CoA synthetase family 40 2005-09-08 2023-01-20 23205 ENSG00000103740 OTTHUMG00000143734 uc002bdh.4 AB014531 NM_015162 CCDS10298 Q96GR2 "9734811|10954726" MGI:2385656 RGD:708557 614362 HGNC:29567 "ENST00000258873.9|NM_015162.5" -HGNC:24174 ACSBG2 acyl-CoA synthetase bubblegum family member 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "BGR|PRTD-NY3|DKFZp434K1635" bubblegum related protein Acyl-CoA synthetase family 40 2005-09-08 2023-03-15 81616 ENSG00000130377 OTTHUMG00000180754 uc002mef.3 NM_030924 "CCDS82282|CCDS92498|CCDS12159" Q5FVE4 11230166 MGI:3587728 RGD:1588580 614363 HGNC:24174 "ENST00000588485.6|NM_030924.5" -HGNC:26101 ACSF2 acyl-CoA synthetase family member 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ20920|ACSMW" Acyl-CoA synthetase family 40 2007-10-17 2023-01-20 80221 ENSG00000167107 OTTHUMG00000162128 uc002iqu.4 "AK024573|BC012053" NM_025149 "CCDS74104|CCDS74105|CCDS74103|CCDS11567" Q96CM8 17762044 MGI:2388287 RGD:1562656 610465 HGNC:26101 "ENST00000300441.9|NM_025149.6" +HGNC:24174 ACSBG2 acyl-CoA synthetase bubblegum family member 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "BGR|PRTD-NY3|DKFZp434K1635" bubblegum related protein Acyl-CoA synthetase family 40 2005-09-08 2023-03-15 81616 ENSG00000130377 OTTHUMG00000180754 uc002mef.3 NM_030924 "CCDS12159|CCDS82282|CCDS92498" Q5FVE4 11230166 MGI:3587728 RGD:1588580 614363 HGNC:24174 "ENST00000588485.6|NM_030924.5" +HGNC:26101 ACSF2 acyl-CoA synthetase family member 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ20920|ACSMW" Acyl-CoA synthetase family 40 2007-10-17 2023-01-20 80221 ENSG00000167107 OTTHUMG00000162128 uc002iqu.4 "AK024573|BC012053" NM_025149 "CCDS11567|CCDS74104|CCDS74103|CCDS74105" Q96CM8 17762044 MGI:2388287 RGD:1562656 610465 HGNC:26101 "ENST00000300441.9|NM_025149.6" HGNC:27288 ACSF3 acyl-CoA synthetase family member 3 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 malonyl-CoA synthetase Acyl-CoA synthetase family 40 2007-10-17 2023-01-20 197322 ENSG00000176715 OTTHUMG00000138044 uc021tmq.2 AK075499 NM_174917 "CCDS10974|CCDS73926" Q4G176 "17762044|21846720" MGI:2182591 RGD:1586037 614245 289511 HGNC:27288 "ENST00000614302.5|NM_001243279.3" HGNC:27288 -HGNC:3569 ACSL1 acyl-CoA synthetase long chain family member 1 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "LACS2|LACS|ACS1|LACS1|FACL1" "lignoceroyl-CoA synthase|long-chain fatty-acid-coenzyme A ligase 1" FACL2 fatty-acid-Coenzyme A ligase, long-chain 2 Acyl-CoA synthetase family 40 1991-08-08 2004-02-20 2017-06-13 2023-03-15 2180 ENSG00000151726 OTTHUMG00000160547 uc063biw.1 BC026290 NM_001995 "CCDS3839|CCDS68825|CCDS68826" P33121 "2341402|1531127" MGI:102797 RGD:2015 152425 6.2.1.3 HGNC:3569 "ENST00000281455.7|NM_001995.5" +HGNC:3569 ACSL1 acyl-CoA synthetase long chain family member 1 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "LACS2|LACS|ACS1|LACS1|FACL1" "lignoceroyl-CoA synthase|long-chain fatty-acid-coenzyme A ligase 1" FACL2 fatty-acid-Coenzyme A ligase, long-chain 2 Acyl-CoA synthetase family 40 1991-08-08 2004-02-20 2017-06-13 2023-03-15 2180 ENSG00000151726 OTTHUMG00000160547 uc063biw.1 BC026290 NM_001995 "CCDS68825|CCDS3839|CCDS68826" P33121 "2341402|1531127" MGI:102797 RGD:2015 152425 6.2.1.3 HGNC:3569 "ENST00000281455.7|NM_001995.5" HGNC:3570 ACSL3 acyl-CoA synthetase long chain family member 3 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "ACS3|PRO2194" FACL3 fatty-acid-Coenzyme A ligase, long-chain 3 Acyl-CoA synthetase family 40 1997-04-25 2004-02-20 2017-06-13 2023-01-20 2181 ENSG00000123983 OTTHUMG00000133160 uc002vni.4 D89053 NM_004457 CCDS2455 O95573 21328461 MGI:1921455 RGD:70552 ACSL3 602371 HGNC:3570 "ENST00000357430.8|NM_004457.5" HGNC:40227 ACSL3-AS1 ACSL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q36.1 02q36.1 Antisense RNAs 1987 2019-07-19 2019-07-19 105373904 ENSG00000234193 OTTHUMG00000153390 DB074600 XR_923949 HGNC:40227 HGNC:56529 ACSL3P1 ACSL3 pseudogene 1 pseudogene pseudogene Approved 3q22.1 03q22.1 2022-10-28 2022-10-28 100421637 ENSG00000244062 NG_025745 PGOHUM00000299600 -HGNC:3571 ACSL4 acyl-CoA synthetase long chain family member 4 protein-coding gene gene with protein product Approved Xq23 Xq23 "ACS4|LACS4" "lignoceroyl-CoA synthase|long-chain fatty-acid-Coenzyme A ligase 4" "FACL4|MRX63|MRX68" "fatty-acid-Coenzyme A ligase, long-chain 4|mental retardation, X-linked 63|mental retardation, X-linked 68" Acyl-CoA synthetase family 40 1997-05-09 2004-02-20 2017-06-13 2023-01-20 2182 ENSG00000068366 OTTHUMG00000022190 uc004eoi.3 BC034959 NM_004458 "CCDS14548|CCDS14549" O60488 "9480748|12949969" MGI:1354713 RGD:69401 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACSL4 300157 117743 HGNC:3571 "ENST00000672401.1|NM_001318510.2" HGNC:3571 -HGNC:16526 ACSL5 acyl-CoA synthetase long chain family member 5 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "ACS5|ACS2" "FACL5 for fatty acid coenzyme A ligase 5|long-chain acyl-CoA synthetase 5|long-chain fatty acid coenzyme A ligase 5|fatty-acid-Coenzyme A ligase, long-chain 5" FACL5 fatty-acid-Coenzyme A ligase, long-chain 5 Acyl-CoA synthetase family 40 2001-09-14 2004-02-20 2017-06-13 2023-01-20 51703 ENSG00000197142 OTTHUMG00000019060 uc001kzs.4 AB033899 NM_016234 "CCDS7572|CCDS7573|CCDS91344" Q9ULC5 11127823 MGI:1919129 RGD:69402 605677 HGNC:16526 "ENST00000354655.9|NM_203379.2" -HGNC:16496 ACSL6 acyl-CoA synthetase long chain family member 6 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0837|ACS2|LACS5|LACS2" FACL6 fatty-acid-Coenzyme A ligase, long-chain 6 Acyl-CoA synthetase family 40 2001-09-14 2004-02-20 2017-06-13 2023-01-20 23305 ENSG00000164398 OTTHUMG00000150692 uc063gss.1 AB020644 NM_015256 "CCDS56383|CCDS34228|CCDS56382|CCDS56381|CCDS34229" Q9UKU0 "10502316|10548543" MGI:894291 RGD:69403 604443 HGNC:16496 "ENST00000651883.2|NM_001009185.3" +HGNC:3571 ACSL4 acyl-CoA synthetase long chain family member 4 protein-coding gene gene with protein product Approved Xq23 Xq23 "ACS4|LACS4" "lignoceroyl-CoA synthase|long-chain fatty-acid-Coenzyme A ligase 4" "FACL4|MRX63|MRX68" "fatty-acid-Coenzyme A ligase, long-chain 4|mental retardation, X-linked 63|mental retardation, X-linked 68" Acyl-CoA synthetase family 40 1997-05-09 2004-02-20 2017-06-13 2023-01-20 2182 ENSG00000068366 OTTHUMG00000022190 uc004eoi.3 BC034959 NM_004458 "CCDS14549|CCDS14548" O60488 "9480748|12949969" MGI:1354713 RGD:69401 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACSL4 300157 117743 HGNC:3571 "ENST00000672401.1|NM_001318510.2" HGNC:3571 +HGNC:16526 ACSL5 acyl-CoA synthetase long chain family member 5 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "ACS5|ACS2" "FACL5 for fatty acid coenzyme A ligase 5|long-chain acyl-CoA synthetase 5|long-chain fatty acid coenzyme A ligase 5|fatty-acid-Coenzyme A ligase, long-chain 5" FACL5 fatty-acid-Coenzyme A ligase, long-chain 5 Acyl-CoA synthetase family 40 2001-09-14 2004-02-20 2017-06-13 2023-01-20 51703 ENSG00000197142 OTTHUMG00000019060 uc001kzs.4 AB033899 NM_016234 "CCDS7572|CCDS91344|CCDS7573" Q9ULC5 11127823 MGI:1919129 RGD:69402 605677 HGNC:16526 "ENST00000354655.9|NM_203379.2" +HGNC:16496 ACSL6 acyl-CoA synthetase long chain family member 6 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0837|ACS2|LACS5|LACS2" FACL6 fatty-acid-Coenzyme A ligase, long-chain 6 Acyl-CoA synthetase family 40 2001-09-14 2004-02-20 2017-06-13 2023-01-20 23305 ENSG00000164398 OTTHUMG00000150692 uc063gss.1 AB020644 NM_015256 "CCDS56383|CCDS34229|CCDS56381|CCDS56382|CCDS34228" Q9UKU0 "10502316|10548543" MGI:894291 RGD:69403 604443 HGNC:16496 "ENST00000651883.2|NM_001009185.3" HGNC:40772 ACSL6-AS1 ACSL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 Antisense RNAs 1987 2019-07-19 2019-07-19 101927693 ENSG00000223548 OTTHUMG00000059638 NR_183256 HGNC:40772 HGNC:18049 ACSM1 acyl-CoA synthetase medium chain family member 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 MACS1 BUCS1 butyryl Coenzyme A synthetase 1 Acyl-CoA synthetase family 40 2002-03-22 2005-09-08 2017-06-13 2023-01-20 116285 ENSG00000166743 OTTHUMG00000131550 uc010bwg.2 AB059429 NM_052956 CCDS10587 Q08AH1 "11470804|12654705" MGI:2152200 RGD:1306813 614357 6.2.1.2 HGNC:18049 "ENST00000520010.6|NM_001318890.3" -HGNC:32017 ACSM2A acyl-CoA synthetase medium chain family member 2A protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "A-923A4.1|MGC150530" ACSM2 acyl-CoA synthetase medium-chain family member 2 Acyl-CoA synthetase family 40 2007-06-20 2017-06-13 2023-01-20 123876 ENSG00000183747 OTTHUMG00000177401 uc002dhg.5 "AK091878|AK096039" NM_001308172 "CCDS76838|CCDS32401" Q08AH3 "19345228|29948332" MGI:2385289 RGD:708383 614358 HGNC:32017 "ENST00000573854.6|NM_001308172.2" -HGNC:30931 ACSM2B acyl-CoA synthetase medium chain family member 2B protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "HXMA|HYST1046" xenobiotic/medium chain fatty acid:CoA ligase ACSM2 acyl-CoA synthetase medium-chain family member 2 Acyl-CoA synthetase family 40 2005-09-08 2007-06-20 2017-06-13 2023-01-20 348158 ENSG00000066813 OTTHUMG00000131555 uc002dhk.5 AY160217 NM_182617 "CCDS92120|CCDS10586" Q68CK6 12616642 MGI:2385289 614359 HGNC:30931 "ENST00000329697.10|NM_001105069.2" -HGNC:10522 ACSM3 acyl-CoA synthetase medium chain family member 3 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 SA SAH "SA (rat hypertension-associated) homolog|SA hypertension-associated homolog (rat)" Acyl-CoA synthetase family 40 1994-08-23 2005-09-08 2017-06-13 2023-01-20 6296 ENSG00000005187 OTTHUMG00000131552 uc002dhr.4 D16350 NM_005622 "CCDS10589|CCDS45435" Q53FZ2 "7843754|7907320|11470804" MGI:99538 RGD:62086 145505 HGNC:10522 "ENST00000289416.10|NM_005622.4" +HGNC:32017 ACSM2A acyl-CoA synthetase medium chain family member 2A protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "A-923A4.1|MGC150530" ACSM2 acyl-CoA synthetase medium-chain family member 2 Acyl-CoA synthetase family 40 2007-06-20 2017-06-13 2023-01-20 123876 ENSG00000183747 OTTHUMG00000177401 uc002dhg.5 "AK091878|AK096039" NM_001308172 "CCDS32401|CCDS76838" Q08AH3 "19345228|29948332" MGI:2385289 RGD:708383 614358 HGNC:32017 "ENST00000573854.6|NM_001308172.2" +HGNC:30931 ACSM2B acyl-CoA synthetase medium chain family member 2B protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "HXMA|HYST1046" xenobiotic/medium chain fatty acid:CoA ligase ACSM2 acyl-CoA synthetase medium-chain family member 2 Acyl-CoA synthetase family 40 2005-09-08 2007-06-20 2017-06-13 2023-01-20 348158 ENSG00000066813 OTTHUMG00000131555 uc002dhk.5 AY160217 NM_182617 "CCDS10586|CCDS92120" Q68CK6 12616642 MGI:2385289 614359 HGNC:30931 "ENST00000329697.10|NM_001105069.2" +HGNC:10522 ACSM3 acyl-CoA synthetase medium chain family member 3 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 SA SAH "SA (rat hypertension-associated) homolog|SA hypertension-associated homolog (rat)" Acyl-CoA synthetase family 40 1994-08-23 2005-09-08 2017-06-13 2023-01-20 6296 ENSG00000005187 OTTHUMG00000131552 uc002dhr.4 D16350 NM_005622 "CCDS45435|CCDS10589" Q53FZ2 "7843754|7907320|11470804" MGI:99538 RGD:62086 145505 HGNC:10522 "ENST00000289416.10|NM_005622.4" HGNC:32016 ACSM4 acyl-CoA synthetase medium chain family member 4 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 similar to olfactory specific medium-chain acyl CoA synthetase Acyl-CoA synthetase family 40 2007-10-17 2017-06-13 2023-01-20 341392 ENSG00000215009 OTTHUMG00000154975 uc001qsx.2 NM_001080454 CCDS44825 P0C7M7 17762044 MGI:2681844 RGD:727928 614360 HGNC:32016 "ENST00000399422.5|NM_001080454.2" HGNC:26060 ACSM5 acyl-CoA synthetase medium chain family member 5 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 FLJ20581 Acyl-CoA synthetase family 40 2007-10-17 2017-06-13 2023-01-20 54988 ENSG00000183549 OTTHUMG00000131551 uc002dhe.4 NM_017888 "CCDS10585|CCDS81954" Q6NUN0 17762044 MGI:2444086 RGD:1309578 614361 HGNC:26060 "ENST00000331849.8|NM_017888.3" HGNC:51295 ACSM5P1 acyl-CoA synthetase medium chain family member 5 pseudogene 1 pseudogene pseudogene Approved 16p12.3 16p12.3 2014-09-24 2017-07-24 2017-07-24 100421779 ENSG00000260762 OTTHUMG00000177228 NG_026352 HGNC:51295 HGNC:31665 ACSM6 acyl-CoA synthetase medium chain family member 6 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 bA310E22.3 C10orf129 chromosome 10 open reading frame 129 Acyl-CoA synthetase family 40 2004-05-27 2014-05-29 2017-06-13 2023-01-20 142827 ENSG00000173124 OTTHUMG00000018808 NM_207321 CCDS7440 Q6P461 23884467 HGNC:31665 "ENST00000394005.4|NM_207321.3" -HGNC:16091 ACSS1 acyl-CoA synthetase short chain family member 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ568C11.3|AceCS2L|MGC33843" ACAS2L acetyl-Coenzyme A synthetase 2 (AMP forming)-like Acyl-CoA synthetase family 40 2001-07-17 2005-09-08 2017-06-13 2023-01-20 84532 ENSG00000154930 OTTHUMG00000032112 uc061vwl.1 NM_032501 "CCDS58764|CCDS13167|CCDS58765" Q9NUB1 22313524 MGI:1915988 RGD:1306246 614355 6.2.1.1 HGNC:16091 "ENST00000323482.9|NM_032501.4" -HGNC:15814 ACSS2 acyl-CoA synthetase short chain family member 2 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "ACS|ACSA|AceCS|dJ1161H23.1" ACAS2 acetyl-Coenzyme A synthetase 2 (ADP forming) Acyl-CoA synthetase family 40 2001-09-17 2005-09-08 2017-06-13 2023-03-15 55902 ENSG00000131069 OTTHUMG00000032317 uc002xbd.3 AF263614 NM_018677 "CCDS13243|CCDS42868" Q9NR19 10843999 MGI:1890410 RGD:1305489 605832 objectId:3128 6.2.1.1 HGNC:15814 "ENST00000360596.7|NM_018677.4" +HGNC:16091 ACSS1 acyl-CoA synthetase short chain family member 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ568C11.3|AceCS2L|MGC33843" ACAS2L acetyl-Coenzyme A synthetase 2 (AMP forming)-like Acyl-CoA synthetase family 40 2001-07-17 2005-09-08 2017-06-13 2023-01-20 84532 ENSG00000154930 OTTHUMG00000032112 uc061vwl.1 NM_032501 "CCDS58765|CCDS58764|CCDS13167" Q9NUB1 22313524 MGI:1915988 RGD:1306246 614355 6.2.1.1 HGNC:16091 "ENST00000323482.9|NM_032501.4" +HGNC:15814 ACSS2 acyl-CoA synthetase short chain family member 2 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "ACS|ACSA|AceCS|dJ1161H23.1" ACAS2 acetyl-Coenzyme A synthetase 2 (ADP forming) Acyl-CoA synthetase family 40 2001-09-17 2005-09-08 2017-06-13 2023-03-15 55902 ENSG00000131069 OTTHUMG00000032317 uc002xbd.3 AF263614 NM_018677 "CCDS42868|CCDS13243" Q9NR19 10843999 MGI:1890410 RGD:1305489 605832 objectId:3128 6.2.1.1 HGNC:15814 "ENST00000360596.7|NM_018677.4" HGNC:24723 ACSS3 acyl-CoA synthetase short chain family member 3 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 FLJ21963 "Acyl-CoA synthetase family|MicroRNA protein coding host genes" "40|1691" 2007-10-17 2017-06-13 2023-01-20 79611 ENSG00000111058 OTTHUMG00000170179 uc001szl.2 NM_024560 "CCDS81716|CCDS9022" Q9H6R3 17762044 MGI:2685720 RGD:1307051 614356 HGNC:24723 "ENST00000548058.6|NM_024560.4" HGNC:129 ACTA1 actin alpha 1, skeletal muscle protein-coding gene gene with protein product Approved 1q42.13 01q42.13 NEM3 nemaline myopathy type 3 ACTA Actins 929 1986-01-01 2019-01-10 2023-01-20 58 ENSG00000143632 OTTHUMG00000038006 uc001htm.4 J00068 NM_001100 CCDS1578 P68133 "10072583|6865942" MGI:87902 RGD:2025 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=ACTA1|LRG_429|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_429.xml" 102610 117750 HGNC:129 "ENST00000366684.7|NM_001100.4" HGNC:129 HGNC:130 ACTA2 actin alpha 2, smooth muscle protein-coding gene gene with protein product Approved 10q23.31 10q23.31 ACTSA actin, alpha 2, smooth muscle, aorta Actins 929 1989-12-07 2019-01-10 2023-01-20 59 ENSG00000107796 OTTHUMG00000018700 uc001kfq.4 X13839 NM_001613 CCDS7392 P62736 2398629 MGI:87909 RGD:621676 LRG_781|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_781.xml 102620 138831 HGNC:130 "ENST00000224784.10|NM_001613.4" HGNC:130 @@ -312,8 +312,8 @@ HGNC:51502 ACTG1P22 actin gamma 1 pseudogene 22 pseudogene pseudogene Approved 2 HGNC:51503 ACTG1P23 actin gamma 1 pseudogene 23 pseudogene pseudogene Approved 3q26.31 03q26.31 2015-01-19 2015-01-19 442097 ENSG00000230362 OTTHUMG00000157141 NG_022227 PGOHUM00000299277 HGNC:51503 HGNC:49661 ACTG1P24 actin gamma 1 pseudogene 24 pseudogene pseudogene Approved 17p11.2 17p11.2 POTENP POTE ankyrin domain family, member N, pseudogene 2014-01-30 2015-01-26 2015-01-26 2015-01-26 441783 ENSG00000226359 OTTHUMG00000059280 NG_022456 PGOHUM00000237244 HGNC:49661 HGNC:54872 ACTG1P25 actin gamma 1 pseudogene 25 pseudogene pseudogene Approved 1q32.1 01q32.1 AGPG 2020-04-02 2020-04-02 148709 ENSG00000234996 NR_002929 32198345 -HGNC:145 ACTG2 actin gamma 2, smooth muscle protein-coding gene gene with protein product Approved 2p13.1 02p13.1 ACTSG "ACTL3|ACTA3" actin, gamma 2, smooth muscle, enteric Actins 929 1989-12-07 2019-01-10 2023-01-20 72 ENSG00000163017 OTTHUMG00000129813 uc002sjw.4 NM_001615 "CCDS1930|CCDS56124" P63267 "1710027|1673027" MGI:104589 RGD:2027 102545 320793 HGNC:145 "ENST00000345517.8|NM_001615.4" HGNC:145 -HGNC:24124 ACTL6A actin like 6A protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "Actl6|BAF53A|Arp4|Baf53a|INO80K|SMARCN1" "BAF complex 53 kDa subunit|BRG1-associated factor 53A|actin-related protein 4|INO80 complex subunit K" "INO80 complex |SRCAP complex|Actin related proteins|BAF complex|PBAF complex|GBAF complex|Tip60/Nua4 histone acetyltransferase complex subunits" "595|1329|1436|1604|1605|1606|1634" 2004-07-12 2015-11-17 2023-01-20 86 ENSG00000136518 OTTHUMG00000157782 uc003fjw.4 AK098691 NM_004301 "CCDS43174|CCDS3231" O96019 "9845365|10380635" MGI:1861453 RGD:1307747 604958 HGNC:24124 "ENST00000429709.7|NM_004301.5" HGNC:24124 +HGNC:145 ACTG2 actin gamma 2, smooth muscle protein-coding gene gene with protein product Approved 2p13.1 02p13.1 ACTSG "ACTL3|ACTA3" actin, gamma 2, smooth muscle, enteric Actins 929 1989-12-07 2019-01-10 2023-01-20 72 ENSG00000163017 OTTHUMG00000129813 uc002sjw.4 NM_001615 "CCDS56124|CCDS1930" P63267 "1710027|1673027" MGI:104589 RGD:2027 102545 320793 HGNC:145 "ENST00000345517.8|NM_001615.4" HGNC:145 +HGNC:24124 ACTL6A actin like 6A protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "Actl6|BAF53A|Arp4|Baf53a|INO80K|SMARCN1" "BAF complex 53 kDa subunit|BRG1-associated factor 53A|actin-related protein 4|INO80 complex subunit K" "INO80 complex |SRCAP complex|Actin related proteins|BAF complex|PBAF complex|GBAF complex|Tip60/Nua4 histone acetyltransferase complex subunits" "595|1329|1436|1604|1605|1606|1634" 2004-07-12 2015-11-17 2023-01-20 86 ENSG00000136518 OTTHUMG00000157782 uc003fjw.4 AK098691 NM_004301 "CCDS3231|CCDS43174" O96019 "9845365|10380635" MGI:1861453 RGD:1307747 604958 HGNC:24124 "ENST00000429709.7|NM_004301.5" HGNC:24124 HGNC:160 ACTL6B actin like 6B protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "BAF53B|SMARCN2" ACTL6 actin-like 6 "Actin related proteins|BAF complex|PBAF complex|GBAF complex" "1436|1604|1605|1606" 1998-06-01 2004-07-14 2015-11-17 2023-01-20 51412 ENSG00000077080 OTTHUMG00000159661 uc003uvy.4 AB015906 NM_016188 CCDS5702 O94805 9799793 MGI:1933548 RGD:1307763 612458 HGNC:160 "ENST00000160382.10|NM_016188.5" HGNC:160 HGNC:161 ACTL7A actin like 7A protein-coding gene gene with protein product Approved 9q31.3 09q31.3 Actin related proteins 1436 1999-07-14 2015-11-17 2023-01-23 10881 ENSG00000187003 OTTHUMG00000020461 uc004bdj.3 BC014610 NM_006687 CCDS6772 Q9Y615 10373328 MGI:1343051 RGD:1304697 604303 HGNC:161 "ENST00000333999.5|NM_006687.4" HGNC:161 HGNC:162 ACTL7B actin like 7B protein-coding gene gene with protein product Approved 9q31.3 09q31.3 Tact1 Actin related proteins 1436 1999-07-14 2015-11-17 2023-01-20 10880 ENSG00000148156 OTTHUMG00000020462 uc004bdi.4 BC033789 NM_006686 CCDS6771 Q9Y614 "10373328|12907721" MGI:1343053 RGD:1305655 604304 HGNC:162 "ENST00000374667.5|NM_006686.4" @@ -322,11 +322,11 @@ HGNC:28494 ACTL9 actin like 9 protein-coding gene gene with protein product Appr HGNC:16127 ACTL10 actin like 10 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 C20orf134 chromosome 20 open reading frame 134 Actin related proteins 1436 2001-07-17 2011-11-24 2015-11-17 2023-01-20 170487 ENSG00000288649 OTTHUMG00000032262 uc002wzt.3 AL121906 NM_001024675 CCDS33463 Q5JWF8 MGI:1917612 RGD:6491130 HGNC:16127 "ENST00000677665.1|NM_001024675.2" HGNC:44626 ACTL11P actin like 11, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 ACTBP13 "actin, beta pseudogene 13|ACTB pseudogene 13" 2012-11-21 2020-08-14 2020-08-14 2020-08-14 389120 ENSG00000234667 OTTHUMG00000154689 NG_028183 MGI:1914972 PGOHUM00000237624 HGNC:44626 HGNC:24758 ACTMAP actin maturation protease protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ41131 C19orf54 chromosome 19 open reading frame 54 2006-08-08 2022-10-10 2022-10-10 2023-01-20 284325 ENSG00000188493 OTTHUMG00000150174 uc002oou.1 AK123126 NM_198476 CCDS12564 Q5BKX5 36173861 MGI:3041247 RGD:1560854 620093 HGNC:24758 "ENST00000378313.7|NM_198476.5" -HGNC:163 ACTN1 actinin alpha 1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 Actinins 1112 1990-08-21 2016-01-18 2023-01-20 87 ENSG00000072110 OTTHUMG00000171386 uc001xkl.4 M95178 NM_001102 "CCDS45129|CCDS91891|CCDS9792|CCDS91890|CCDS45130" P12814 2349951 MGI:2137706 RGD:70907 LRG_886|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_886.xml 102575 330666 HGNC:163 "ENST00000394419.9|NM_001130004.2" HGNC:163 +HGNC:163 ACTN1 actinin alpha 1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 Actinins 1112 1990-08-21 2016-01-18 2023-01-20 87 ENSG00000072110 OTTHUMG00000171386 uc001xkl.4 M95178 NM_001102 "CCDS91891|CCDS45129|CCDS45130|CCDS91890|CCDS9792" P12814 2349951 MGI:2137706 RGD:70907 LRG_886|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_886.xml 102575 330666 HGNC:163 "ENST00000394419.9|NM_001130004.2" HGNC:163 HGNC:20131 ACTN1-DT ACTN1 divergent transcript non-coding RNA RNA, long non-coding Approved 14q24.1 14q24.1 "C14orf84|ACTN1-AS1" "chromosome 14 open reading frame 84|ACTN1 antisense RNA 1 (non-protein coding)|ACTN1 antisense RNA 1" Divergent transcripts 1990 2002-12-18 2021-01-14 2021-01-14 2021-01-14 161159 ENSG00000259062 OTTHUMG00000171698 uc031qpf.1 "DB029126|AI147349" NR_073422 ACTN1-AS1 HGNC:20131 HGNC:164 ACTN2 actinin alpha 2 protein-coding gene gene with protein product Approved 1q43 01q43 Actinins 1112 1991-07-16 2016-01-18 2023-03-15 88 ENSG00000077522 OTTHUMG00000040059 uc001hyf.4 BC047901 NM_001103 "CCDS1613|CCDS60455" P35609 1339456 MGI:109192 RGD:1308097 LRG_436|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_436.xml 102573 159192 HGNC:164 "ENST00000366578.6|NM_001103.4" HGNC:164 -HGNC:165 ACTN3 actinin alpha 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "actinin, alpha 3|actinin alpha 3 (gene/pseudogene)" Actinins 1112 1991-07-16 2020-05-01 2023-01-20 89 ENSG00000248746 OTTHUMG00000160815 uc021qlz.4 M86407 NM_001104 "CCDS76439|CCDS53663" Q08043 "1339456|17828264" MGI:99678 RGD:621792 102574 HGNC:165 "ENST00000513398.2|NM_001104.4" -HGNC:166 ACTN4 actinin alpha 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FSGS1 focal segmental glomerulosclerosis 1 Actinins 1112 1992-03-26 2016-01-18 2023-01-20 81 ENSG00000130402 OTTHUMG00000137382 uc002oja.3 D89980 NM_001322033 "CCDS12518|CCDS92611|CCDS92610" O43707 "9461087|10700177" MGI:1890773 RGD:61816 604638 117757 HGNC:166 "ENST00000252699.7|NM_004924.6" HGNC:166 +HGNC:165 ACTN3 actinin alpha 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "actinin, alpha 3|actinin alpha 3 (gene/pseudogene)" Actinins 1112 1991-07-16 2020-05-01 2023-01-20 89 ENSG00000248746 OTTHUMG00000160815 uc021qlz.4 M86407 NM_001104 "CCDS53663|CCDS76439" Q08043 "1339456|17828264" MGI:99678 RGD:621792 102574 HGNC:165 "ENST00000513398.2|NM_001104.4" +HGNC:166 ACTN4 actinin alpha 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FSGS1 focal segmental glomerulosclerosis 1 Actinins 1112 1992-03-26 2016-01-18 2023-01-20 81 ENSG00000130402 OTTHUMG00000137382 uc002oja.3 D89980 NM_001322033 "CCDS92611|CCDS12518|CCDS92610" O43707 "9461087|10700177" MGI:1890773 RGD:61816 604638 117757 HGNC:166 "ENST00000252699.7|NM_004924.6" HGNC:166 HGNC:44028 ACTN4P1 actinin alpha 4 pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 2012-05-28 2016-01-18 2016-01-18 344978 ENSG00000213493 OTTHUMG00000161135 NG_022074 PGOHUM00000246045 HGNC:44028 HGNC:44032 ACTN4P2 actinin alpha 4 pseudogene 2 pseudogene pseudogene Approved 1p34.3 01p34.3 2012-05-28 2016-01-18 2016-01-18 391026 ENSG00000214141 OTTHUMG00000004315 PGOHUM00000244676 HGNC:44032 HGNC:51621 ACTP1 actin family pseudogene 1 pseudogene pseudogene Approved 2q12.3 02q12.3 2015-03-26 2018-05-23 106480335 ENSG00000229890 OTTHUMG00000153365 NG_044542 PGOHUM00000298612 HGNC:51621 @@ -336,7 +336,7 @@ HGNC:168 ACTR1B actin related protein 1B protein-coding gene gene with protein p HGNC:169 ACTR2 actin related protein 2 protein-coding gene gene with protein product Approved 2p14 02p14 ARP2 "ARP2 (actin-related protein 2, yeast) homolog|ARP2 actin-related protein 2 homolog (yeast)|ARP2 actin related protein 2 homolog" "Actin related protein 2/3 complex subunits|Actin related proteins" "39|1436" 1999-05-17 2019-01-10 2023-01-20 10097 ENSG00000138071 OTTHUMG00000129540 uc002sdq.4 AF006082 NM_001005386 "CCDS46307|CCDS1881" P61160 9230079 MGI:1913963 RGD:1310826 604221 HGNC:169 "ENST00000260641.10|NM_005722.4" HGNC:170 ACTR3 actin related protein 3 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 ARP3 "ARP3 (actin-related protein 3, yeast) homolog|ARP3 actin-related protein 3 homolog (yeast)|ARP3 actin related protein 3 homolog" "Actin related protein 2/3 complex subunits|Actin related proteins" "39|1436" 1999-05-17 2019-01-10 2023-01-20 10096 ENSG00000115091 OTTHUMG00000153497 uc002tkx.3 AF006083 NM_005721 "CCDS33277|CCDS63000" P61158 9230079 MGI:1921367 RGD:71024 604222 HGNC:170 "ENST00000263238.7|NM_005721.5" HGNC:53965 ACTR3-AS1 ACTR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 AC104653.1 Antisense RNAs 1987 2018-07-05 2018-07-05 101060091 ENSG00000228857 NR_110174 29959764 HGNC:53965 -HGNC:17256 ACTR3B actin related protein 3B protein-coding gene gene with protein product Approved 7q36.1-q36.2 07q36.1-q36.2 "ARP11|ARP3beta" "ARP3 actin-related protein 3 homolog B (yeast)|ARP3 actin related protein 3 homolog B" Actin related proteins 1436 2005-05-19 2019-01-10 2023-01-20 57180 ENSG00000133627 OTTHUMG00000151463 uc003wle.3 NM_020445 "CCDS87568|CCDS34782|CCDS5934" Q9P1U1 10806390 MGI:2661120 RGD:1565759 HGNC:17256 "ENST00000256001.13|NM_020445.6" +HGNC:17256 ACTR3B actin related protein 3B protein-coding gene gene with protein product Approved 7q36.1-q36.2 07q36.1-q36.2 "ARP11|ARP3beta" "ARP3 actin-related protein 3 homolog B (yeast)|ARP3 actin related protein 3 homolog B" Actin related proteins 1436 2005-05-19 2019-01-10 2023-01-20 57180 ENSG00000133627 OTTHUMG00000151463 uc003wle.3 NM_020445 "CCDS34782|CCDS5934|CCDS87568" Q9P1U1 10806390 MGI:2661120 RGD:1565759 HGNC:17256 "ENST00000256001.13|NM_020445.6" HGNC:37724 ACTR3BP1 ACTR3B pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 1 2010-02-05 2013-09-12 2015-01-19 643050 ENSG00000270242 OTTHUMG00000185098 NG_005799 PGOHUM00000233948 HGNC:37724 HGNC:38677 ACTR3BP2 ACTR3B pseudogene 2 pseudogene pseudogene Approved 2p11.1 02p11.1 FKSG73 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 2 2010-07-20 2013-09-12 2014-11-19 440888 ENSG00000226481 OTTHUMG00000155085 NR_027714 PGOHUM00000240774 HGNC:38677 HGNC:38678 ACTR3BP3 ACTR3B pseudogene 3 pseudogene pseudogene Approved 16p11.2 16p11.2 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 3 2010-07-20 2013-09-12 2015-01-19 647156 ENSG00000260327 OTTHUMG00000176495 NG_005800 PGOHUM00000248822 HGNC:38678 @@ -351,26 +351,26 @@ HGNC:38679 ACTR3P3 ACTR3 pseudogene 3 pseudogene pseudogene Approved 3q12.2 03q1 HGNC:14671 ACTR5 actin related protein 5 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "FLJ12785|Arp5|INO80M" INO80 complex subunit M "ARP5 (actin-related protein 5, yeast) homolog|ARP5 actin-related protein 5 homolog (yeast)|ARP5 actin related protein 5 homolog" "INO80 complex |Actin related proteins" "595|1436" 2001-06-11 2019-01-10 2023-01-20 79913 ENSG00000101442 OTTHUMG00000032456 uc002xjd.3 AK022847 NM_024855 CCDS13308 Q9H9F9 16230350 MGI:1924748 RGD:1307958 619730 HGNC:14671 "ENST00000243903.6|NM_024855.4" HGNC:24025 ACTR6 actin related protein 6 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "ARP6|FLJ13433" "ARP6 actin-related protein 6 homolog (yeast)|ARP6 actin related protein 6 homolog" "SRCAP complex|Actin related proteins" "1329|1436" 2004-03-23 2019-01-10 2023-01-20 64431 ENSG00000075089 OTTHUMG00000170245 uc001thb.3 AF212251 NM_022496 CCDS9074 Q9GZN1 11368909 MGI:1914269 RGD:1304609 619729 HGNC:24025 "ENST00000188312.7|NM_022496.5" HGNC:44210 ACTR6P1 ACTR6 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 ARP6 actin-related protein 6 homolog (yeast) pseudogene 1 2012-07-09 2013-09-12 2013-09-12 100421495 ENSG00000248915 OTTHUMG00000160993 NG_025147 PGOHUM00000261381 HGNC:44210 -HGNC:14672 ACTR8 actin related protein 8 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "INO80N|ARP8" INO80 complex subunit N "ARP8 (actin-related protein 8, yeast) homolog|ARP8 actin related protein 8 homolog" "INO80 complex |Actin related proteins" "595|1436" 2001-06-11 2019-01-10 2023-01-20 93973 ENSG00000113812 OTTHUMG00000158279 uc003dhd.4 NM_022899 "CCDS93290|CCDS2875" Q9H981 "18163988|16230350" MGI:1860775 RGD:1311878 619716 HGNC:14672 "ENST00000335754.8|NM_022899.5" +HGNC:14672 ACTR8 actin related protein 8 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "INO80N|ARP8" INO80 complex subunit N "ARP8 (actin-related protein 8, yeast) homolog|ARP8 actin related protein 8 homolog" "INO80 complex |Actin related proteins" "595|1436" 2001-06-11 2019-01-10 2023-01-20 93973 ENSG00000113812 OTTHUMG00000158279 uc003dhd.4 NM_022899 "CCDS2875|CCDS93290" Q9H981 "18163988|16230350" MGI:1860775 RGD:1311878 619716 HGNC:14672 "ENST00000335754.8|NM_022899.5" HGNC:17372 ACTR10 actin related protein 10 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "HARP11|ACTR11|Arp11|Arp10" "actin-related protein 10 homolog (S. cerevisiae)|actin related protein 10 homolog" "Dynactin subunits|Actin related proteins" "943|1436" 2003-01-24 2019-01-10 2023-01-20 55860 ENSG00000131966 OTTHUMG00000171049 uc001xdf.4 AF220190 NM_018477 CCDS32090 Q9NZ32 12857853 MGI:1891654 RGD:1306515 619731 HGNC:17372 "ENST00000254286.9|NM_018477.3" HGNC:24027 ACTRT1 actin related protein T1 protein-coding gene gene with protein product Approved Xq25 Xq25 "AIP1|KIAA0705|ARIP1|Arp-T1" Actin related proteins 1436 2005-11-22 2016-03-15 2023-01-20 139741 ENSG00000123165 OTTHUMG00000022359 uc004eum.4 AF440739 NM_138289 CCDS14611 Q8TDG2 12243744 MGI:1920610 RGD:1359559 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACTRT1 300487 HGNC:24027 "ENST00000371124.5|NM_138289.4" HGNC:55127 ACTRT1P1 ACTRT1 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2020-07-02 2020-07-02 100128268 ENSG00000235239 NG_011795 HGNC:24026 ACTRT2 actin related protein T2 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "Arp-T2|ARPM2|FLJ25424|ACTRT2" Actin related proteins 1436 2005-11-22 2015-12-01 2023-01-20 140625 ENSG00000169717 OTTHUMG00000000562 uc001ajz.4 "AF440740|AB057364" NM_080431 CCDS45 Q8TDY3 "11750065|12243744" MGI:1920603 RGD:1359657 608535 HGNC:24026 "ENST00000378404.4|NM_080431.5" HGNC:24022 ACTRT3 actin related protein T3 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 ARPM1 actin related protein M1 Actin related proteins 1436 2012-04-10 2016-03-15 2023-01-20 84517 ENSG00000184378 OTTHUMG00000184025 uc003ffs.3 AK055346 NM_032487 CCDS3206 Q9BYD9 "11750065|18692047" MGI:1923902 RGD:1561457 608534 HGNC:24022 "ENST00000330368.3|NM_032487.5" HGNC:171 ACVR1 activin A receptor type 1 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "SKR1|ALK2|ACVR1A" ACVRLK2 activin A receptor, type I Type 1 receptor serine/threonine kinases 345 1994-01-10 2016-03-07 2023-01-20 90 ENSG00000115170 OTTHUMG00000131967 uc010fog.3 NM_001105 CCDS2206 Q04771 8397373 MGI:87911 RGD:620200 ACVR1 102576 117759 objectId:1785 HGNC:171 "ENST00000434821.7|NM_001111067.4" HGNC:171 -HGNC:172 ACVR1B activin A receptor type 1B protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "ALK4|SKR2|ActRIB" ACVRLK4 activin A receptor, type IB Type 1 receptor serine/threonine kinases 345 1994-12-12 2016-03-07 2023-01-20 91 ENSG00000135503 OTTHUMG00000167920 uc001rzn.4 NM_020328 "CCDS44893|CCDS44894|CCDS8816" P36896 8397373 MGI:1338944 RGD:735207 ACVR1B 601300 objectId:1787 HGNC:172 "ENST00000257963.9|NM_004302.5" HGNC:172 -HGNC:18123 ACVR1C activin A receptor type 1C protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "ALK7|ACVRLK7" activin A receptor, type IC Type 1 receptor serine/threonine kinases 345 2003-07-21 2016-03-07 2023-01-20 130399 ENSG00000123612 OTTHUMG00000131964 uc002tzk.5 BC022530 NM_145259 "CCDS2205|CCDS46434|CCDS46432|CCDS46433" Q8NER5 12063393 MGI:2661081 RGD:621789 608981 objectId:1790 HGNC:18123 "ENST00000243349.13|NM_145259.3" +HGNC:172 ACVR1B activin A receptor type 1B protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "ALK4|SKR2|ActRIB" ACVRLK4 activin A receptor, type IB Type 1 receptor serine/threonine kinases 345 1994-12-12 2016-03-07 2023-01-20 91 ENSG00000135503 OTTHUMG00000167920 uc001rzn.4 NM_020328 "CCDS44893|CCDS8816|CCDS44894" P36896 8397373 MGI:1338944 RGD:735207 ACVR1B 601300 objectId:1787 HGNC:172 "ENST00000257963.9|NM_004302.5" HGNC:172 +HGNC:18123 ACVR1C activin A receptor type 1C protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "ALK7|ACVRLK7" activin A receptor, type IC Type 1 receptor serine/threonine kinases 345 2003-07-21 2016-03-07 2023-01-20 130399 ENSG00000123612 OTTHUMG00000131964 uc002tzk.5 BC022530 NM_145259 "CCDS46432|CCDS46433|CCDS46434|CCDS2205" Q8NER5 12063393 MGI:2661081 RGD:621789 608981 objectId:1790 HGNC:18123 "ENST00000243349.13|NM_145259.3" HGNC:173 ACVR2A activin A receptor type 2A protein-coding gene gene with protein product Approved 2q22.3-q23.1 02q22.3-q23.1 ACTRII ACVR2 "activin A receptor, type II|activin A receptor, type IIA" Type 2 receptor serine/threonine kinases 346 1993-09-17 2005-05-10 2016-03-07 2023-01-20 92 ENSG00000121989 OTTHUMG00000150603 uc002twh.5 NM_001616 "CCDS63030|CCDS33301" P27037 "1314589|10702675" MGI:102806 RGD:70911 ACVR2A 102581 objectId:1791 HGNC:173 "ENST00000241416.12|NM_001616.5" HGNC:174 ACVR2B activin A receptor type 2B protein-coding gene gene with protein product Approved 3p22.2 03p22.2 ActR-IIB activin A receptor, type IIB Type 2 receptor serine/threonine kinases 346 1997-03-19 2016-03-07 2023-01-20 93 ENSG00000114739 OTTHUMG00000131291 uc003cif.4 X77533 NM_001106 CCDS2679 Q13705 "8161782|9621519" MGI:87912 RGD:2028 602730 159918 objectId:1792 HGNC:174 "ENST00000352511.5|NM_001106.4" HGNC:174 HGNC:44161 ACVR2B-AS1 ACVR2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.2 03p22.2 ACVR2B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100128640 ENSG00000229589 OTTHUMG00000156031 uc003cie.2 AK025619 NR_028389 ACVR2B-AS1 HGNC:44161 HGNC:175 ACVRL1 activin A receptor like type 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HHT2|ALK1|HHT" activin receptor-like kinase 1 "ACVRLK1|ORW2" "activin A receptor type II-like 1|activin A receptor type IL" Type 1 receptor serine/threonine kinases 345 1994-12-12 2016-03-07 2023-01-20 94 ENSG00000139567 OTTHUMG00000169507 uc001rzj.4 L17075 NM_000020 CCDS31804 P37023 "8397373|8640225|22718755" MGI:1338946 RGD:2029 "Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database|http://www.hhtmutation.org/|LRG_543|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_543.xml" 601284 117764 objectId:1784 2.7.11.30 HGNC:175 "ENST00000388922.9|NM_000020.3" HGNC:175 -HGNC:177 ACY1 aminoacylase 1 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 M20 metallopeptidases 1443 1986-01-01 2023-01-20 95 ENSG00000243989 OTTHUMG00000157815 uc003dcp.4 L07548 NM_000666 "CCDS56262|CCDS56261|CCDS56263|CCDS2844" Q03154 "1707030|6948533" MGI:87913 RGD:2030 104620 159895 M20.973 3.5.1.14 HGNC:177 "ENST00000636358.2|NM_000666.3" HGNC:177 +HGNC:177 ACY1 aminoacylase 1 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 M20 metallopeptidases 1443 1986-01-01 2023-01-20 95 ENSG00000243989 OTTHUMG00000157815 uc003dcp.4 L07548 NM_000666 "CCDS56262|CCDS56263|CCDS56261|CCDS2844" Q03154 "1707030|6948533" MGI:87913 RGD:2030 104620 159895 M20.973 3.5.1.14 HGNC:177 "ENST00000636358.2|NM_000666.3" HGNC:177 HGNC:24104 ACY3 aminoacylase 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "HCBP1|MGC9740|ACY-3" N-acyl-aromatic-L-amino acid amidohydrolase aspartoacylase (aminoacylase) 3 2004-08-10 2015-03-09 2023-01-20 91703 ENSG00000132744 OTTHUMG00000167283 uc001omq.3 BC008689 NM_080658 CCDS8175 Q96HD9 14656720 MGI:1918920 RGD:1305394 614413 3.5.1.114 HGNC:24104 "ENST00000255082.8|NM_080658.2" -HGNC:179 ACYP1 acylphosphatase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 acylphosphatase 1, erythrocyte (common) type 1998-04-21 2016-02-26 2023-03-15 97 ENSG00000119640 OTTHUMG00000171767 uc001xrg.4 X84194 NM_001107 "CCDS9838|CCDS76706" P07311 "7796909|9730610" MGI:1913454 RGD:1311327 600875 3.6.1.7 HGNC:179 "ENST00000238618.8|NM_001107.5" +HGNC:179 ACYP1 acylphosphatase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 acylphosphatase 1, erythrocyte (common) type 1998-04-21 2016-02-26 2023-03-15 97 ENSG00000119640 OTTHUMG00000171767 uc001xrg.4 X84194 NM_001107 "CCDS76706|CCDS9838" P07311 "7796909|9730610" MGI:1913454 RGD:1311327 600875 3.6.1.7 HGNC:179 "ENST00000238618.8|NM_001107.5" HGNC:180 ACYP2 acylphosphatase 2 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 acylphosphatase 2, muscle type 1998-04-21 2016-02-26 2023-01-20 98 ENSG00000170634 OTTHUMG00000129287 uc002rxq.5 X84195 NM_001320586 "CCDS92754|CCDS92753|CCDS1850|CCDS82452" P14621 "8268218|25665007" MGI:1922822 RGD:1595836 102595 3.6.1.7 HGNC:180 "ENST00000607452.6|NM_001320586.2" -HGNC:186 ADA adenosine deaminase protein-coding gene gene with protein product Approved 20q13.12 20q13.12 ADA1 Adenosine deaminase family 1302 1986-01-01 2023-01-20 100 ENSG00000196839 OTTHUMG00000033081 uc002xmj.4 X02994 NM_000022 "CCDS13335|CCDS82618" P00813 "6198240|6090454" MGI:87916 RGD:2031 "ADAbase: Mutation registry for Adenosine Deaminase Deficiency|http://structure.bmc.lu.se/idbase/ADAbase/|LRG_16|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_16.xml" 608958 117771 objectId:1230 3.5.4.4 HGNC:186 "ENST00000372874.9|NM_000022.4" HGNC:186 -HGNC:1839 ADA2 adenosine deaminase 2 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 ADGF "IDGFL|CECR1" cat eye syndrome chromosome region, candidate 1 Adenosine deaminase family 1302 1999-12-09 2017-02-16 2017-02-16 2023-01-20 51816 ENSG00000093072 OTTHUMG00000030726 uc062bga.1 AF190746 NM_001282225 "CCDS74809|CCDS13742|CCDS63395|CCDS13743" Q9NZK5 "10756095|27663683" LRG_1217|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1217.xml 607575 396032 HGNC:1839 "ENST00000399837.8|NM_001282225.2" HGNC:1839 -HGNC:30713 ADAD1 adenosine deaminase domain containing 1 protein-coding gene gene with protein product Approved 4q27 04q27 Tenr adenosine deaminase domain containing 1 (testis-specific) Adenosine deaminases acting on RNA 1303 2007-05-31 2015-11-09 2023-01-20 132612 ENSG00000164113 OTTHUMG00000150128 uc003ieo.4 AK057303 NM_139243 "CCDS54800|CCDS34058|CCDS54801" Q96M93 "7543294|9541871" MGI:103258 RGD:1359309 614130 HGNC:30713 "ENST00000296513.7|NM_139243.4" +HGNC:186 ADA adenosine deaminase protein-coding gene gene with protein product Approved 20q13.12 20q13.12 ADA1 Adenosine deaminase family 1302 1986-01-01 2023-01-20 100 ENSG00000196839 OTTHUMG00000033081 uc002xmj.4 X02994 NM_000022 "CCDS82618|CCDS13335" P00813 "6198240|6090454" MGI:87916 RGD:2031 "ADAbase: Mutation registry for Adenosine Deaminase Deficiency|http://structure.bmc.lu.se/idbase/ADAbase/|LRG_16|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_16.xml" 608958 117771 objectId:1230 3.5.4.4 HGNC:186 "ENST00000372874.9|NM_000022.4" HGNC:186 +HGNC:1839 ADA2 adenosine deaminase 2 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 ADGF "IDGFL|CECR1" cat eye syndrome chromosome region, candidate 1 Adenosine deaminase family 1302 1999-12-09 2017-02-16 2017-02-16 2023-01-20 51816 ENSG00000093072 OTTHUMG00000030726 uc062bga.1 AF190746 NM_001282225 "CCDS63395|CCDS13743|CCDS13742|CCDS74809" Q9NZK5 "10756095|27663683" LRG_1217|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1217.xml 607575 396032 HGNC:1839 "ENST00000399837.8|NM_001282225.2" HGNC:1839 +HGNC:30713 ADAD1 adenosine deaminase domain containing 1 protein-coding gene gene with protein product Approved 4q27 04q27 Tenr adenosine deaminase domain containing 1 (testis-specific) Adenosine deaminases acting on RNA 1303 2007-05-31 2015-11-09 2023-01-20 132612 ENSG00000164113 OTTHUMG00000150128 uc003ieo.4 AK057303 NM_139243 "CCDS54800|CCDS54801|CCDS34058" Q96M93 "7543294|9541871" MGI:103258 RGD:1359309 614130 HGNC:30713 "ENST00000296513.7|NM_139243.4" HGNC:44550 ADAD1P1 adenosine deaminase domain containing 1 pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 adenosine deaminase domain containing 1 (testis-specific) pseudogene 1 2012-11-15 2015-11-24 2022-10-19 100422386 ENSG00000270367 NG_016362 PGOHUM00000237999 HGNC:44550 HGNC:44552 ADAD1P2 adenosine deaminase domain containing 1 pseudogene 2 pseudogene pseudogene Approved 18q21.1 18q21.1 adenosine deaminase domain containing 1 (testis-specific) pseudogene 2 2012-11-15 2015-11-24 2015-11-24 100422407 ENSG00000267511 OTTHUMG00000179830 NG_012925 PGOHUM00000235056 HGNC:44552 HGNC:30714 ADAD2 adenosine deaminase domain containing 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "TENRL|FLJ00337" Adenosine deaminases acting on RNA 1303 2007-05-31 2023-01-20 161931 ENSG00000140955 OTTHUMG00000137637 uc002fhr.3 AF447586 NM_139174 "CCDS10944|CCDS45536" Q8NCV1 MGI:1923023 RGD:1586236 619532 HGNC:30714 "ENST00000315906.10|NM_001145400.2" @@ -385,14 +385,14 @@ HGNC:213 ADAM6 ADAM metallopeptidase domain 6 (pseudogene) pseudogene pseudogene HGNC:214 ADAM7 ADAM metallopeptidase domain 7 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "GP-83|EAPI" a disintegrin and metalloproteinase domain 7 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2023-01-20 8756 ENSG00000069206 OTTHUMG00000097859 uc003xeb.4 AF090327 NM_003817 CCDS6045 Q9H2U9 "15883027|19855936" MGI:107247 RGD:62032 607310 M12.956 objectId:1655 HGNC:214 "ENST00000175238.10|NM_003817.4" HGNC:56152 ADAM7-AS1 ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p21.2 08p21.2 Antisense RNAs 1987 2022-01-12 2022-01-12 101929294 ENSG00000253535 NR_125808 HGNC:56153 ADAM7-AS2 ADAM7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 8p21.2 08p21.2 Antisense RNAs 1987 2022-01-12 2022-01-12 101929315 ENSG00000253643 NR_125809 -HGNC:215 ADAM8 ADAM metallopeptidase domain 8 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "CD156|MS2|CD156A" a disintegrin and metalloproteinase domain 8 "ADAM metallopeptidase domain containing|CD molecules" "47|471" 1996-11-13 2005-08-18 2023-01-20 101 ENSG00000151651 OTTHUMG00000019309 uc021qbe.2 D26579 NM_001109 "CCDS58103|CCDS58102|CCDS31319" P78325 9126482 MGI:107825 RGD:1566394 602267 M12.208 objectId:1656 CD156A HGNC:215 "ENST00000445355.8|NM_001109.5" +HGNC:215 ADAM8 ADAM metallopeptidase domain 8 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "CD156|MS2|CD156A" a disintegrin and metalloproteinase domain 8 "ADAM metallopeptidase domain containing|CD molecules" "47|471" 1996-11-13 2005-08-18 2023-01-20 101 ENSG00000151651 OTTHUMG00000019309 uc021qbe.2 D26579 NM_001109 "CCDS31319|CCDS58102|CCDS58103" P78325 9126482 MGI:107825 RGD:1566394 602267 M12.208 objectId:1656 CD156A HGNC:215 "ENST00000445355.8|NM_001109.5" HGNC:216 ADAM9 ADAM metallopeptidase domain 9 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 "MDC9|KIAA0021|MCMP|Mltng" meltrin gamma CORD9 "a disintegrin and metalloproteinase domain 9 (meltrin gamma)|cone rod dystrophy 9" ADAM metallopeptidase domain containing 47 1998-12-01 2010-06-24 2023-03-15 8754 ENSG00000168615 OTTHUMG00000159783 uc003xmr.4 U41766 NM_003816 CCDS6112 Q13443 "8647900|11581183|19409519" MGI:105376 RGD:621473 602713 201516 M12.209 objectId:1657 HGNC:216 "ENST00000487273.7|NM_003816.3" HGNC:216 HGNC:188 ADAM10 ADAM metallopeptidase domain 10 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "kuz|MADM|HsT18717|CD156C" a disintegrin and metalloproteinase domain 10 "ADAM metallopeptidase domain containing|CD molecules" "47|471" 1997-03-21 2005-08-18 2023-01-20 102 ENSG00000137845 OTTHUMG00000132633 uc002afd.3 AF009615 NM_001110 CCDS10167 O14672 "9344679|9441766" MGI:109548 RGD:2032 602192 358659 M12.210 objectId:1658 CD156c HGNC:188 "ENST00000260408.8|NM_001110.4" HGNC:188 HGNC:189 ADAM11 ADAM metallopeptidase domain 11 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 metalloproteinase-like, disintegrin-like, cysteine-rich protein MDC a disintegrin and metalloproteinase domain 11 ADAM metallopeptidase domain containing 47 1993-11-01 2005-08-18 2023-01-20 4185 ENSG00000073670 OTTHUMG00000179038 uc002ihh.4 D17390 NM_002390 "CCDS82139|CCDS11486" O75078 8252040 MGI:1098667 RGD:1307515 155120 M12.976 objectId:1659 HGNC:189 "ENST00000200557.11|NM_002390.6" HGNC:190 ADAM12 ADAM metallopeptidase domain 12 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "MCMPMltna|MLTN" meltrin alpha a disintegrin and metalloproteinase domain 12 (meltrin alpha) ADAM metallopeptidase domain containing 47 1998-12-01 2008-07-29 2023-01-20 8038 ENSG00000148848 OTTHUMG00000019243 uc001ljk.4 AF023476 NM_001288973 "CCDS7654|CCDS91373|CCDS7653" O43184 "9417060|18342566" MGI:105378 RGD:1583652 602714 M12.212 objectId:1660 HGNC:190 "ENST00000448723.2|NM_001288973.2" -HGNC:193 ADAM15 ADAM metallopeptidase domain 15 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MDC15 metargidin a disintegrin and metalloproteinase domain 15 (metargidin) ADAM metallopeptidase domain containing 47 1998-12-01 2007-06-04 2023-01-20 8751 ENSG00000143537 OTTHUMG00000013898 uc001fgr.3 U46005 NM_003815 "CCDS58032|CCDS1084|CCDS1087|CCDS1088|CCDS44236|CCDS1086|CCDS60282|CCDS1085|CCDS58031" Q13444 9516430 MGI:1333882 RGD:620402 605548 M12.215 objectId:1661 HGNC:193 "ENST00000356955.7|NM_207197.3" +HGNC:193 ADAM15 ADAM metallopeptidase domain 15 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MDC15 metargidin a disintegrin and metalloproteinase domain 15 (metargidin) ADAM metallopeptidase domain containing 47 1998-12-01 2007-06-04 2023-01-20 8751 ENSG00000143537 OTTHUMG00000013898 uc001fgr.3 U46005 NM_003815 "CCDS1086|CCDS44236|CCDS58031|CCDS60282|CCDS58032|CCDS1088|CCDS1087|CCDS1084|CCDS1085" Q13444 9516430 MGI:1333882 RGD:620402 605548 M12.215 objectId:1661 HGNC:193 "ENST00000356955.7|NM_207197.3" HGNC:195 ADAM17 ADAM metallopeptidase domain 17 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "cSVP|CD156B" "cartilage snake venom-like protease|TNF-alpha convertase enzyme|a disintegrin and metalloproteinase 17" TACE tumor necrosis factor, alpha, converting enzyme "ADAM metallopeptidase domain containing|CD molecules" "47|471" 1997-04-10 2008-07-31 2023-01-20 6868 ENSG00000151694 OTTHUMG00000090425 uc002qzu.5 U69611 NM_001382777 CCDS1665 P78536 "9034190|9574564" MGI:1096335 RGD:620404 LRG_1203|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1203.xml 603639 299456 M12.217 objectId:1662 CD156B HGNC:195 "ENST00000310823.8|NM_003183.6" HGNC:195 -HGNC:196 ADAM18 ADAM metallopeptidase domain 18 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 "tMDCIII|ADAM27" a disintegrin and metalloproteinase domain 18 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2023-01-20 8749 ENSG00000168619 OTTHUMG00000164040 uc003xni.4 AJ133004 NM_014237 "CCDS6113|CCDS83287|CCDS55225" Q9Y3Q7 12200459 MGI:105986 RGD:620405 619495 M12.957 objectId:1663 HGNC:196 "ENST00000265707.10|NM_014237.3" +HGNC:196 ADAM18 ADAM metallopeptidase domain 18 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 "tMDCIII|ADAM27" a disintegrin and metalloproteinase domain 18 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2023-01-20 8749 ENSG00000168619 OTTHUMG00000164040 uc003xni.4 AJ133004 NM_014237 "CCDS6113|CCDS55225|CCDS83287" Q9Y3Q7 12200459 MGI:105986 RGD:620405 619495 M12.957 objectId:1663 HGNC:196 "ENST00000265707.10|NM_014237.3" HGNC:197 ADAM19 ADAM metallopeptidase domain 19 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 MLTNB meltrin beta a disintegrin and metalloproteinase domain 19 (meltrin beta) ADAM metallopeptidase domain containing 47 1998-12-01 2010-06-24 2023-01-20 8728 ENSG00000135074 OTTHUMG00000130242 uc003lwz.5 AF311317 NM_033274 CCDS4338 Q9H013 9806848 MGI:105377 RGD:1585017 603640 M12.214 objectId:1664 HGNC:197 "ENST00000257527.9|NM_033274.5" HGNC:199 ADAM20 ADAM metallopeptidase domain 20 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 a disintegrin and metalloproteinase domain 20 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2023-01-20 8748 ENSG00000134007 OTTHUMG00000167548 uc001xme.4 AF029899 NM_003814 CCDS32111 O43506 9469942 "MGI:1345157|MGI:2152342|MGI:3045694" 603712 M12.218 objectId:1665 HGNC:199 "ENST00000256389.5|NM_003814.5" HGNC:199 HGNC:20102 ADAM20P1 ADAM metallopeptidase domain 20 pseudogene 1 pseudogene pseudogene Approved 14q24.2 14q24.2 C14orf55 chromosome 14 open reading frame 55 2003-01-13 2012-04-30 2012-04-30 2012-04-30 317760 ENSG00000259158 OTTHUMG00000171329 uc059cwv.1 BC047939 NR_037933 PGOHUM00000247846 HGNC:20102 @@ -400,14 +400,14 @@ HGNC:43901 ADAM20P2 ADAM metallopeptidase domain 20 pseudogene 2 pseudogene pseu HGNC:43902 ADAM20P3 ADAM metallopeptidase domain 20 pseudogene 3 pseudogene pseudogene Approved 4q35.2 04q35.2 2012-04-30 2014-11-19 644325 ENSG00000249162 OTTHUMG00000160214 NG_023541 PGOHUM00000258178 HGNC:43902 HGNC:200 ADAM21 ADAM metallopeptidase domain 21 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 ADAM31 a disintegrin and metalloproteinase domain 21 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2023-01-20 8747 ENSG00000139985 OTTHUMG00000171328 uc001xmd.4 AF029900 NM_003813 CCDS9804 Q9UKJ8 9469942 MGI:1861229 RGD:6499950 603713 M12.234 objectId:1666 HGNC:200 "ENST00000603540.2|NM_003813.4" HGNC:19822 ADAM21P1 ADAM metallopeptidase domain 21 pseudogene 1 pseudogene pseudogene Approved 14q24.2 14q24.2 ADAM21P "a disintegrin and metalloproteinase domain 21 pseudogene|ADAM metallopeptidase domain 21 pseudogene" 2003-01-13 2010-01-12 2010-01-12 2014-11-19 145241 ENSG00000235812 OTTHUMG00000166565 NG_002467 PGOHUM00000257964 HGNC:19822 -HGNC:201 ADAM22 ADAM metallopeptidase domain 22 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 MDC2 metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2 a disintegrin and metalloproteinase domain 22 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2023-01-20 53616 ENSG00000008277 OTTHUMG00000137417 uc003ujn.4 AB009671 NM_021723 "CCDS43608|CCDS94138|CCDS94137|CCDS43610|CCDS43609|CCDS47637" Q9P0K1 "9693107|10524237" MGI:1340046 RGD:1585016 603709 M12.978 objectId:1667 HGNC:201 "ENST00000413139.2|NM_001324418.2" HGNC:201 -HGNC:202 ADAM23 ADAM metallopeptidase domain 23 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 MDC3 a disintegrin and metalloproteinase domain 23 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2023-01-20 8745 ENSG00000114948 OTTHUMG00000132919 uc002vbq.6 AB009672 NM_003812 "CCDS2369|CCDS92936" O75077 9693107 MGI:1345162 RGD:1305739 603710 M12.979 objectId:1668 HGNC:202 "ENST00000264377.8|NM_003812.4" +HGNC:201 ADAM22 ADAM metallopeptidase domain 22 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 MDC2 metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2 a disintegrin and metalloproteinase domain 22 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2023-01-20 53616 ENSG00000008277 OTTHUMG00000137417 uc003ujn.4 AB009671 NM_021723 "CCDS43610|CCDS94137|CCDS94138|CCDS47637|CCDS43609|CCDS43608" Q9P0K1 "9693107|10524237" MGI:1340046 RGD:1585016 603709 M12.978 objectId:1667 HGNC:201 "ENST00000413139.2|NM_001324418.2" HGNC:201 +HGNC:202 ADAM23 ADAM metallopeptidase domain 23 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 MDC3 a disintegrin and metalloproteinase domain 23 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2023-01-20 8745 ENSG00000114948 OTTHUMG00000132919 uc002vbq.6 AB009672 NM_003812 "CCDS92936|CCDS2369" O75077 9693107 MGI:1345162 RGD:1305739 603710 M12.979 objectId:1668 HGNC:202 "ENST00000264377.8|NM_003812.4" HGNC:203 ADAM24P ADAM metallopeptidase domain 24, pseudogene pseudogene pseudogene Approved 8p22 08p22 a disintegrin and metalloproteinase domain 24 ADAM metallopeptidase domain containing 47 2010-08-18 2005-08-18 2014-11-18 646479 ENSG00000214607 OTTHUMG00000154893 NG_022410 MGI:105984 PGOHUM00000249583 HGNC:203 HGNC:206 ADAM28 ADAM metallopeptidase domain 28 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "eMDCII|MDC-Lm|MDC-Ls|ADAM23" a disintegrin and metalloproteinase domain 28 ADAM metallopeptidase domain containing 47 1999-07-29 2005-08-18 2023-01-20 10863 ENSG00000042980 OTTHUMG00000163780 uc003xdy.4 AJ242015 NM_021778 "CCDS47830|CCDS34865" Q9UKQ2 "10794709|15013428" MGI:105988 RGD:727820 606188 M12.224 objectId:1669 HGNC:206 "ENST00000265769.9|NM_014265.6" HGNC:207 ADAM29 ADAM metallopeptidase domain 29 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 "svph1|CT73" cancer/testis antigen 73 a disintegrin and metalloproteinase domain 29 ADAM metallopeptidase domain containing 47 1999-08-23 2005-08-18 2023-01-20 11086 ENSG00000168594 OTTHUMG00000160764 uc031shw.1 AF171929 NM_001130703 CCDS3823 Q9UKF5 10644455 MGI:2676326 RGD:1309066 604778 M12.981 objectId:1670 HGNC:207 "ENST00000359240.7|NM_014269.4" HGNC:208 ADAM30 ADAM metallopeptidase domain 30 protein-coding gene gene with protein product Approved 1p12 01p12 svph4 a disintegrin and metalloproteinase domain 30 ADAM metallopeptidase domain containing 47 1999-08-23 2005-08-18 2023-01-20 11085 ENSG00000134249 OTTHUMG00000189303 uc001eij.4 AF171932 NM_021794 CCDS907 Q9UKF2 10512762 MGI:1918328 RGD:1594713 604779 M12.232 objectId:1671 HGNC:208 "ENST00000369400.2|NM_021794.4" HGNC:15479 ADAM32 ADAM metallopeptidase domain 32 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 a disintegrin and metalloproteinase domain 32 ADAM metallopeptidase domain containing 47 2004-02-09 2005-08-18 2023-01-20 203102 ENSG00000197140 OTTHUMG00000164071 uc003xmt.5 BC026085 NM_145004 "CCDS47846|CCDS83286" Q8TC27 12568724 MGI:2653822 RGD:735114 618602 M12.953 objectId:1672 HGNC:15479 "ENST00000379907.9|NM_145004.7" -HGNC:15478 ADAM33 ADAM metallopeptidase domain 33 protein-coding gene gene with protein product Approved 20p13 20p13 "DKFZp434K0521|dJ964F7.1" C20orf153 "a disintegrin and metalloproteinase domain 33|chromosome 20 open reading frame 153" ADAM metallopeptidase domain containing 47 2001-04-10 2005-08-18 2023-03-15 80332 ENSG00000149451 OTTHUMG00000031758 uc002wit.5 "AL117415|AB055891" NM_025220 "CCDS63219|CCDS13058" Q9BZ11 11814695 MGI:1341813 RGD:1305278 607114 M12.244 objectId:1673 HGNC:15478 "ENST00000356518.7|NM_025220.5" +HGNC:15478 ADAM33 ADAM metallopeptidase domain 33 protein-coding gene gene with protein product Approved 20p13 20p13 "DKFZp434K0521|dJ964F7.1" C20orf153 "a disintegrin and metalloproteinase domain 33|chromosome 20 open reading frame 153" ADAM metallopeptidase domain containing 47 2001-04-10 2005-08-18 2023-03-15 80332 ENSG00000149451 OTTHUMG00000031758 uc002wit.5 "AL117415|AB055891" NM_025220 "CCDS13058|CCDS63219" Q9BZ11 11814695 MGI:1341813 RGD:1305278 607114 M12.244 objectId:1673 HGNC:15478 "ENST00000356518.7|NM_025220.5" HGNC:16299 ADAMDEC1 ADAM like decysin 1 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 M12.219 2001-08-24 2016-05-04 2023-01-20 27299 ENSG00000134028 OTTHUMG00000097858 uc003xdz.2 Y13323 NM_014479 "CCDS55212|CCDS6044" O15204 "9271581|12037602" MGI:1917650 RGD:1309861 606393 M12.219 HGNC:16299 "ENST00000256412.8|NM_014479.3" HGNC:217 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "C3-C5|METH1|KIAA1346" metalloprotease and thrombospondin-1 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1 ADAM metallopeptidases with thrombospondin type 1 motif 50 1998-11-19 2015-11-09 2023-01-20 9510 ENSG00000154734 OTTHUMG00000078688 uc002ymf.4 AF060152 NM_006988 CCDS33524 Q9UHI8 10438512 MGI:109249 RGD:621241 605174 M12.222 objectId:1674 HGNC:217 "ENST00000284984.8|NM_006988.5" HGNC:217 HGNC:218 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "ADAMTS-3|hPCPNI|PCINP|ADAM-TS2|NPI" "procollagen I N-proteinase|procollagen N-endopeptidase" a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2 ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-04-15 2015-11-09 2023-01-20 9509 ENSG00000087116 OTTHUMG00000130915 uc003mjw.3 AJ003125 NM_014244 "CCDS34311|CCDS4444" O95450 "10094461|15373769" MGI:1347356 RGD:1565950 604539 117780 M12.301 objectId:1675 HGNC:218 "ENST00000251582.12|NM_014244.5" HGNC:218 @@ -425,8 +425,8 @@ HGNC:40625 ADAMTS9-AS1 ADAMTS9 antisense RNA 1 non-coding RNA RNA, long non-codi HGNC:42435 ADAMTS9-AS2 ADAMTS9 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 ADAMTS9 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2018-06-15 100507098 ENSG00000241684 OTTHUMG00000158725 uc003dml.5 NR_038264 "24833086|29707897" adamts9-as2 ADAMTS9-AS2 HGNC:42435 HGNC:13201 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 ADAM-TS10 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10 ADAM metallopeptidases with thrombospondin type 1 motif 50 2001-04-05 2015-11-09 2023-01-20 81794 ENSG00000142303 OTTHUMG00000182216 uc002mkj.3 AF163762 NM_030957 "CCDS12206|CCDS62529" Q9H324 "15355968|15368195" MGI:2449112 RGD:1598320 608990 117773 M12.235 objectId:1683 HGNC:13201 "ENST00000597188.6|NM_030957.4" HGNC:13201 HGNC:14605 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 protein-coding gene gene with protein product Approved 5p13.3-p13.2 05p13.3-p13.2 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 ADAM metallopeptidases with thrombospondin type 1 motif 50 2001-04-05 2015-11-09 2023-01-20 81792 ENSG00000151388 OTTHUMG00000162088 uc003jia.3 AJ250725 NM_030955 "CCDS34140|CCDS87293|CCDS87292" P58397 11279086 MGI:2146046 RGD:1307323 606184 M12.237 objectId:1684 HGNC:14605 "ENST00000504830.6|NM_030955.4" -HGNC:1366 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "VWFCP|TTP|vWF-CP|FLJ42993|MGC118899|MGC118900|DKFZp434C2322" C9orf8 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13 ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-08-23 2001-09-21 2015-11-09 2023-03-15 11093 ENSG00000160323 OTTHUMG00000020876 uc004cdv.6 AJ011374 NM_139025 "CCDS6971|CCDS6972|CCDS6970" Q76LX8 "11557746|11535495" MGI:2685556 RGD:1311594 LRG_544|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_544.xml 604134 117776 M12.241 objectId:1685 HGNC:1366 "ENST00000355699.7|NM_139027.6" HGNC:1366 -HGNC:14899 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14 ADAM metallopeptidases with thrombospondin type 1 motif 50 2002-01-09 2015-11-09 2023-01-20 140766 ENSG00000138316 OTTHUMG00000018414 uc001jrg.4 AF358666 NM_080722 "CCDS7306|CCDS7307" Q8WXS8 11779638 MGI:2179942 RGD:1308899 607506 M12.024 objectId:1686 HGNC:14899 "ENST00000373207.2|NM_080722.4" +HGNC:1366 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "VWFCP|TTP|vWF-CP|FLJ42993|MGC118899|MGC118900|DKFZp434C2322" C9orf8 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13 ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-08-23 2001-09-21 2015-11-09 2023-03-15 11093 ENSG00000160323 OTTHUMG00000020876 uc004cdv.6 AJ011374 NM_139025 "CCDS6972|CCDS6970|CCDS6971" Q76LX8 "11557746|11535495" MGI:2685556 RGD:1311594 LRG_544|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_544.xml 604134 117776 M12.241 objectId:1685 HGNC:1366 "ENST00000355699.7|NM_139027.6" HGNC:1366 +HGNC:14899 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14 ADAM metallopeptidases with thrombospondin type 1 motif 50 2002-01-09 2015-11-09 2023-01-20 140766 ENSG00000138316 OTTHUMG00000018414 uc001jrg.4 AF358666 NM_080722 "CCDS7307|CCDS7306" Q8WXS8 11779638 MGI:2179942 RGD:1308899 607506 M12.024 objectId:1686 HGNC:14899 "ENST00000373207.2|NM_080722.4" HGNC:16305 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15 ADAM metallopeptidases with thrombospondin type 1 motif 50 2002-02-13 2015-11-09 2023-01-20 170689 ENSG00000166106 OTTHUMG00000165657 uc010scd.3 AJ315733 NM_139055 CCDS8488 Q8TE58 11867212 MGI:2449569 RGD:1309770 607509 M12.025 objectId:1687 HGNC:16305 "ENST00000299164.4|NM_139055.4" HGNC:17108 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 protein-coding gene gene with protein product Approved 5p15.32 05p15.32 ADAMTS16s a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16 ADAM metallopeptidases with thrombospondin type 1 motif 50 2002-02-13 2015-11-09 2023-01-20 170690 ENSG00000145536 OTTHUMG00000161663 uc003jdl.4 AJ315734 NM_139056 CCDS43299 Q8TE57 11867212 MGI:2429637 RGD:1310046 607510 M12.026 objectId:1688 HGNC:17108 "ENST00000274181.7|NM_139056.4" HGNC:55548 ADAMTS16-DT ADAMTS16 divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.32 05p15.32 Divergent transcripts 1990 2021-03-25 2021-03-25 101929176 ENSG00000250579 NR_109915 @@ -438,86 +438,86 @@ HGNC:17178 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 pr HGNC:14632 ADAMTSL1 ADAMTS like 1 protein-coding gene gene with protein product Approved 9p22.2-p22.1 09p22.2-p22.1 "ADAMTSR1|FLJ35283" "punctin|punctin-1" C9orf94 chromosome 9 open reading frame 94 "I-set domain containing|ADAMTS like|MicroRNA protein coding host genes" "593|947|1691" 2002-01-11 2015-11-09 2023-03-15 92949 ENSG00000178031 OTTHUMG00000019604 uc003zne.5 AF176313 NM_001040272 "CCDS47954|CCDS6485" Q8N6G6 "9628581|11805097" MGI:1924989 RGD:1306439 609198 HGNC:14632 "ENST00000380548.9|NM_001040272.6" HGNC:14631 ADAMTSL2 ADAMTS like 2 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 KIAA0605 ADAMTS like 947 2005-01-12 2015-11-09 2023-01-20 9719 ENSG00000197859 OTTHUMG00000131706 uc011mdl.2 AB011177 NM_014694 CCDS6976 Q86TH1 "9628581|14667842" MGI:1925044 RGD:1305459 612277 183895 HGNC:14631 "ENST00000651351.2|NM_014694.4" HGNC:14631 HGNC:14633 ADAMTSL3 ADAMTS like 3 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "KIAA1233|punctin-2" "I-set domain containing|Immunoglobulin like domain containing|ADAMTS like" "593|594|947" 2004-04-21 2015-11-09 2023-01-20 57188 ENSG00000156218 OTTHUMG00000147363 uc002bjz.5 AF237652 NM_207517 "CCDS10326|CCDS73773" P82987 "9628581|10574462" MGI:3028499 RGD:1305155 609199 HGNC:14633 "ENST00000286744.10|NM_207517.3" -HGNC:19706 ADAMTSL4 ADAMTS like 4 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 DKFZP434K1772 TSRC1 thrombospondin repeat containing 1 "ADAMTS like|MicroRNA protein coding host genes" "947|1691" 2003-06-02 2005-12-01 2015-11-09 2023-01-20 54507 ENSG00000143382 OTTHUMG00000034863 uc001eux.5 BC027478 NM_019032 "CCDS72908|CCDS30852|CCDS91048|CCDS955" Q6UY14 12706885 MGI:2389008 RGD:1561012 610113 178791 HGNC:19706 "ENST00000271643.9|NM_019032.6" HGNC:19706 +HGNC:19706 ADAMTSL4 ADAMTS like 4 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 DKFZP434K1772 TSRC1 thrombospondin repeat containing 1 "ADAMTS like|MicroRNA protein coding host genes" "947|1691" 2003-06-02 2005-12-01 2015-11-09 2023-01-20 54507 ENSG00000143382 OTTHUMG00000034863 uc001eux.5 BC027478 NM_019032 "CCDS955|CCDS30852|CCDS91048|CCDS72908" Q6UY14 12706885 MGI:2389008 RGD:1561012 610113 178791 HGNC:19706 "ENST00000271643.9|NM_019032.6" HGNC:19706 HGNC:32041 ADAMTSL4-AS1 ADAMTSL4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 FLJ45786 C1orf138 chromosome 1 open reading frame 138 Antisense RNAs 1987 2005-07-08 2013-08-29 2013-08-29 2014-11-18 574406 ENSG00000203804 OTTHUMG00000034866 AK127688 NR_104133 Q5T5F5 ADAMTSL4-AS1 HGNC:32041 HGNC:40895 ADAMTSL4-AS2 ADAMTSL4 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 Antisense RNAs 1987 2019-07-19 2019-07-19 100289061 ENSG00000237781 OTTHUMG00000034864 XR_001738227 HGNC:40895 HGNC:27912 ADAMTSL5 ADAMTS like 5 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 THSD6 thrombospondin, type I, domain containing 6 ADAMTS like 947 2004-03-17 2006-02-07 2015-11-09 2023-01-20 339366 ENSG00000185761 OTTHUMG00000180093 uc002ltd.2 BC040620 NM_213604 CCDS12071 Q6ZMM2 23010571 MGI:1913798 RGD:1305607 HGNC:27912 "ENST00000330475.9|NM_213604.3" -HGNC:16486 ADAP1 ArfGAP with dual PH domains 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 GCS1L CENTA1 centaurin, alpha 1 "ArfGAPs|Pleckstrin homology domain containing" "395|682" 2001-10-03 2008-09-22 2008-09-22 2023-01-20 11033 ENSG00000105963 OTTHUMG00000023380 uc003sjo.6 AJ006422 NM_006869 "CCDS75558|CCDS5318|CCDS64577|CCDS64576" O75689 10333475 MGI:2442201 RGD:621418 608114 HGNC:16486 "ENST00000265846.10|NM_006869.4" +HGNC:16486 ADAP1 ArfGAP with dual PH domains 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 GCS1L CENTA1 centaurin, alpha 1 "ArfGAPs|Pleckstrin homology domain containing" "395|682" 2001-10-03 2008-09-22 2008-09-22 2023-01-20 11033 ENSG00000105963 OTTHUMG00000023380 uc003sjo.6 AJ006422 NM_006869 "CCDS5318|CCDS75558|CCDS64577|CCDS64576" O75689 10333475 MGI:2442201 RGD:621418 608114 HGNC:16486 "ENST00000265846.10|NM_006869.4" HGNC:16487 ADAP2 ArfGAP with dual PH domains 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 CENTA2 centaurin, alpha 2 "ArfGAPs|Pleckstrin homology domain containing" "395|682" 2001-09-04 2008-09-22 2008-09-22 2023-01-20 55803 ENSG00000184060 OTTHUMG00000132868 uc002hfx.4 AJ238994 NM_018404 "CCDS11261|CCDS86588" Q9NPF8 "12018390|27956705" MGI:2663075 RGD:708487 608635 469914 HGNC:16487 "ENST00000330889.8|NM_018404.3" -HGNC:225 ADAR adenosine deaminase RNA specific protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "ADAR1|DRADA" Double-stranded RNA-specific adenosine deaminase "IFI4|G1P1" interferon-induced protein 4 Adenosine deaminases acting on RNA 1303 1995-12-12 2019-01-18 2023-03-15 103 ENSG00000160710 OTTHUMG00000037261 uc001ffh.4 BC038227 NM_001111 "CCDS30879|CCDS1071|CCDS44231" P55265 7972084 MGI:1889575 RGD:71099 LRG_1212|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1212.xml 146920 119502 3.5.4.- HGNC:225 "ENST00000368474.9|NM_001111.5" HGNC:225 -HGNC:226 ADARB1 adenosine deaminase RNA specific B1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "ADAR2|DRADA2|ADAR2g|DRABA2|RED1|hRED1|ADAR2a-L1|ADAR2a-L2|ADAR2a-L3|ADAR2a|ADAR2b|ADAR2c|ADAR2d" RED1 homolog (rat) adenosine deaminase, RNA-specific, B1 (homolog of rat RED1) Adenosine deaminases acting on RNA 1303 1996-10-02 2019-01-18 2023-03-15 104 ENSG00000197381 OTTHUMG00000090295 uc002zgt.3 U76420 NM_015833 "CCDS33589|CCDS33590|CCDS93105|CCDS93106|CCDS42970" P78563 "9143496|14759252" MGI:891999 RGD:2033 601218 3.5.-.- HGNC:226 "ENST00000348831.9|NM_001112.4" HGNC:226 +HGNC:225 ADAR adenosine deaminase RNA specific protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "ADAR1|DRADA" Double-stranded RNA-specific adenosine deaminase "IFI4|G1P1" interferon-induced protein 4 Adenosine deaminases acting on RNA 1303 1995-12-12 2019-01-18 2023-03-15 103 ENSG00000160710 OTTHUMG00000037261 uc001ffh.4 BC038227 NM_001111 "CCDS30879|CCDS44231|CCDS1071" P55265 7972084 MGI:1889575 RGD:71099 LRG_1212|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1212.xml 146920 119502 3.5.4.- HGNC:225 "ENST00000368474.9|NM_001111.5" HGNC:225 +HGNC:226 ADARB1 adenosine deaminase RNA specific B1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "ADAR2|DRADA2|ADAR2g|DRABA2|RED1|hRED1|ADAR2a-L1|ADAR2a-L2|ADAR2a-L3|ADAR2a|ADAR2b|ADAR2c|ADAR2d" RED1 homolog (rat) adenosine deaminase, RNA-specific, B1 (homolog of rat RED1) Adenosine deaminases acting on RNA 1303 1996-10-02 2019-01-18 2023-03-15 104 ENSG00000197381 OTTHUMG00000090295 uc002zgt.3 U76420 NM_015833 "CCDS33590|CCDS93106|CCDS33589|CCDS42970|CCDS93105" P78563 "9143496|14759252" MGI:891999 RGD:2033 601218 3.5.-.- HGNC:226 "ENST00000348831.9|NM_001112.4" HGNC:226 HGNC:227 ADARB2 adenosine deaminase RNA specific B2 (inactive) protein-coding gene gene with protein product Approved 10p15.3 10p15.3 "RED2|hRED2|ADAR3" RED2 homolog (rat) "adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)|adenosine deaminase, RNA-specific, B2|adenosine deaminase, RNA-specific, B2 (non-functional)" Adenosine deaminases acting on RNA 1303 1996-10-02 2019-01-18 2023-01-20 105 ENSG00000185736 OTTHUMG00000017543 uc009xhq.4 AF034837 NM_018702 CCDS7058 Q9NS39 "9272162|10836796" MGI:2151118 RGD:621519 602065 3.5.-.- HGNC:227 "ENST00000381312.6|NM_018702.4" HGNC:23299 ADARB2-AS1 ADARB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 bA466B20.1 "C10orf109|NCRNA00168" "chromosome 10 open reading frame 109|non-protein coding RNA 168|ADARB2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-08-11 2012-08-15 2017-09-08 642394 ENSG00000205696 OTTHUMG00000017542 uc057rfm.1 NR_033387 A8MUL3 28874676 ADARB2-AS1 HGNC:23299 HGNC:228 ADAT1 adenosine deaminase tRNA specific 1 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 Adenosine deaminases acting on RNA 1303 1999-10-14 2019-01-18 2023-01-20 23536 ENSG00000065457 OTTHUMG00000137611 uc002feo.3 AF125188 NM_012091 CCDS10922 Q9BUB4 10430867 MGI:1353631 RGD:1591020 604230 HGNC:228 "ENST00000564657.2|NM_001324445.2" HGNC:21172 ADAT2 adenosine deaminase tRNA specific 2 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "dJ20N2.1|TAD2" DEADC1 "deaminase domain containing 1|adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)" Adenosine deaminases acting on RNA 1303 2003-11-26 2007-08-16 2019-01-18 2023-01-20 134637 ENSG00000189007 OTTHUMG00000015725 uc003qjj.4 BC037955 NM_001286259 "CCDS43511|CCDS69219" Q7Z6V5 12457566 MGI:1914007 RGD:1309642 615388 HGNC:21172 "ENST00000237283.9|NM_182503.3" HGNC:25151 ADAT3 adenosine deaminase tRNA specific 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 TAD3 tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae) adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae) Adenosine deaminases acting on RNA 1303 2007-08-16 2019-01-18 2023-01-20 113179 ENSG00000213638 OTTHUMG00000154591 uc002luh.5 BC011824 NM_138422 CCDS12076 Q96EY9 12457566 MGI:1924344 RGD:1642417 615302 365118 HGNC:25151 "ENST00000329478.4|NM_138422.4" HGNC:25151 -HGNC:19038 ADCK1 aarF domain containing kinase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ39600 2003-07-21 2023-01-20 57143 ENSG00000063761 OTTHUMG00000171520 uc001xui.3 AK096919 NM_020421 "CCDS9869|CCDS45144" Q86TW2 12471243 MGI:1919363 RGD:1308263 620399 objectId:1925 HGNC:19038 "ENST00000238561.10|NM_020421.4" +HGNC:19038 ADCK1 aarF domain containing kinase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ39600 2003-07-21 2023-01-20 57143 ENSG00000063761 OTTHUMG00000171520 uc001xui.3 AK096919 NM_020421 "CCDS45144|CCDS9869" Q86TW2 12471243 MGI:1919363 RGD:1308263 620399 objectId:1925 HGNC:19038 "ENST00000238561.10|NM_020421.4" HGNC:19039 ADCK2 aarF domain containing kinase 2 protein-coding gene gene with protein product Approved 7q34 07q34 MGC20727 2003-07-21 2023-01-20 90956 ENSG00000133597 OTTHUMG00000157409 uc003vvy.2 AF131745 NM_052853 CCDS5861 Q7Z695 MGI:1889336 RGD:1311058 objectId:1926 HGNC:19039 "ENST00000072869.9|NM_052853.4" HGNC:21738 ADCK5 aarF domain containing kinase 5 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ35454 2003-07-21 2023-01-20 203054 ENSG00000173137 OTTHUMG00000165190 uc003zch.5 BC032402 NM_174922 CCDS34965 Q3MIX3 MGI:2679274 RGD:1305504 objectId:1929 HGNC:21738 "ENST00000308860.11|NM_174922.5" HGNC:229 ADCP1 adenosine deaminase complexing protein 1 other unknown Approved 6 06 1986-01-01 2019-06-20 106 "279003|6933468|6974523" -HGNC:232 ADCY1 adenylate cyclase 1 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 AC1 adenylyl cyclase subtype 1 DFNB44 "adenylate cyclase 1 (brain)|deafness, autosomal recessive 44" Adenylate cyclases 53 1992-12-02 2016-06-24 2023-01-20 107 ENSG00000164742 OTTHUMG00000155420 uc003tne.5 L05500 NM_021116 "CCDS75593|CCDS34631" Q08828 "8314585|24482543" MGI:99677 RGD:1309318 LRG_1172|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1172.xml 103072 404762 objectId:1278 4.6.1.1 HGNC:232 "ENST00000297323.12|NM_021116.4" HGNC:232 +HGNC:232 ADCY1 adenylate cyclase 1 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 AC1 adenylyl cyclase subtype 1 DFNB44 "adenylate cyclase 1 (brain)|deafness, autosomal recessive 44" Adenylate cyclases 53 1992-12-02 2016-06-24 2023-01-20 107 ENSG00000164742 OTTHUMG00000155420 uc003tne.5 L05500 NM_021116 "CCDS34631|CCDS75593" Q08828 "8314585|24482543" MGI:99677 RGD:1309318 LRG_1172|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1172.xml 103072 404762 objectId:1278 4.6.1.1 HGNC:232 "ENST00000297323.12|NM_021116.4" HGNC:232 HGNC:233 ADCY2 adenylate cyclase 2 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 "HBAC2|KIAA1060|AC2" adenylate cyclase 2 (brain) Adenylate cyclases 53 1993-02-11 2016-06-24 2023-01-20 108 ENSG00000078295 OTTHUMG00000090476 uc003jdz.2 AB028983 NM_020546 CCDS3872 Q08462 1427768 MGI:99676 RGD:619965 103071 objectId:1279 4.6.1.1 HGNC:233 "ENST00000338316.9|NM_020546.3" -HGNC:234 ADCY3 adenylate cyclase 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 AC3 Adenylate cyclases 53 1994-07-22 2023-01-20 109 ENSG00000138031 OTTHUMG00000094765 uc002rfs.5 AF033861 NM_001320613 "CCDS1715|CCDS82424" O60266 9920776 MGI:99675 RGD:71009 600291 objectId:1280 4.6.1.1 HGNC:234 "ENST00000679454.1|NM_004036.5" HGNC:234 +HGNC:234 ADCY3 adenylate cyclase 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 AC3 Adenylate cyclases 53 1994-07-22 2023-01-20 109 ENSG00000138031 OTTHUMG00000094765 uc002rfs.5 AF033861 NM_001320613 "CCDS82424|CCDS1715" O60266 9920776 MGI:99675 RGD:71009 600291 objectId:1280 4.6.1.1 HGNC:234 "ENST00000679454.1|NM_004036.5" HGNC:234 HGNC:235 ADCY4 adenylate cyclase 4 protein-coding gene gene with protein product Approved 14q12 14q12 AC4 Adenylate cyclases 53 1994-07-22 2023-01-20 196883 ENSG00000129467 OTTHUMG00000029347 uc001wox.3 AF497516 NM_001198568 CCDS9627 Q8NFM4 7766992 MGI:99674 RGD:2034 600292 objectId:1281 4.6.1.1 HGNC:235 "ENST00000418030.7|NM_001198568.2" -HGNC:236 ADCY5 adenylate cyclase 5 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 AC5 Adenylate cyclases 53 1994-07-22 2023-01-20 111 ENSG00000173175 OTTHUMG00000159517 uc003egh.3 U65473 NM_183357 "CCDS56274|CCDS93353|CCDS3022" O95622 10481931 MGI:99673 RGD:71014 600293 327400 objectId:1282 4.6.1.1 HGNC:236 "ENST00000462833.6|NM_183357.3" HGNC:236 +HGNC:236 ADCY5 adenylate cyclase 5 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 AC5 Adenylate cyclases 53 1994-07-22 2023-01-20 111 ENSG00000173175 OTTHUMG00000159517 uc003egh.3 U65473 NM_183357 "CCDS56274|CCDS3022|CCDS93353" O95622 10481931 MGI:99673 RGD:71014 600293 327400 objectId:1282 4.6.1.1 HGNC:236 "ENST00000462833.6|NM_183357.3" HGNC:236 HGNC:237 ADCY6 adenylate cyclase 6 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 AC6 "Adenylate cyclases|MicroRNA protein coding host genes" "53|1691" 1994-07-22 2023-01-20 112 ENSG00000174233 OTTHUMG00000170396 uc001rsh.5 NM_020983 "CCDS8768|CCDS8767" O43306 24319099 MGI:87917 RGD:2035 600294 403669 objectId:1283 4.6.1.1 HGNC:237 "ENST00000357869.8|NM_015270.5" HGNC:237 HGNC:53332 ADCY6-DT ADCY6 divergent transcript non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 Divergent transcripts 1990 2019-06-14 2019-06-14 100506125 ENSG00000257660 OTTHUMG00000170397 NR_110019 HGNC:53332 -HGNC:238 ADCY7 adenylate cyclase 7 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "KIAA0037|AC7" "Adenylate cyclases|MicroRNA protein coding host genes" "53|1691" 1994-07-22 2023-01-20 113 ENSG00000121281 OTTHUMG00000133172 uc002egd.3 D25538 NM_001114 "CCDS73882|CCDS10741" P51828 7860067 MGI:102891 RGD:619966 600385 objectId:1284 4.6.1.1 HGNC:238 "ENST00000673801.1|NM_001114.5" +HGNC:238 ADCY7 adenylate cyclase 7 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "KIAA0037|AC7" "Adenylate cyclases|MicroRNA protein coding host genes" "53|1691" 1994-07-22 2023-01-20 113 ENSG00000121281 OTTHUMG00000133172 uc002egd.3 D25538 NM_001114 "CCDS10741|CCDS73882" P51828 7860067 MGI:102891 RGD:619966 600385 objectId:1284 4.6.1.1 HGNC:238 "ENST00000673801.1|NM_001114.5" HGNC:239 ADCY8 adenylate cyclase 8 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "HBAC1|AC8" ADCY3 adenylate cyclase 8 (brain) Adenylate cyclases 53 1993-02-11 2016-06-24 2023-01-20 114 ENSG00000155897 OTTHUMG00000164756 uc003ytd.5 Z35309 NM_001115 CCDS6363 P40145 8076676 MGI:1341110 RGD:2036 103070 objectId:1285 4.6.1.1 HGNC:239 "ENST00000286355.10|NM_001115.3" HGNC:240 ADCY9 adenylate cyclase 9 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 AC9 Adenylate cyclases 53 1994-07-22 2023-01-20 115 ENSG00000162104 OTTHUMG00000177612 uc002cvx.4 AF036927 NM_001116 CCDS32382 O60503 9628827 MGI:108450 RGD:1304747 603302 objectId:1286 4.6.1.1 HGNC:240 "ENST00000294016.8|NM_001116.4" -HGNC:21285 ADCY10 adenylate cyclase 10 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "SAC|Sacy|SACI|HCA2|RP1-313L4.2" "soluble adenylyl cyclase|Hypercalciuria, absorptive, 2" adenylate cyclase 10, soluble Adenylate cyclases 53 2008-01-16 2017-09-25 2023-01-20 55811 ENSG00000143199 OTTHUMG00000034573 uc001ger.4 AF271058 NM_018417 "CCDS53426|CCDS72977|CCDS1265" Q96PN6 23255611 MGI:2660854 RGD:708450 605205 168172 objectId:3068 4.6.1.1 HGNC:21285 "ENST00000367851.9|NM_018417.6" HGNC:21285 +HGNC:21285 ADCY10 adenylate cyclase 10 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "SAC|Sacy|SACI|HCA2|RP1-313L4.2" "soluble adenylyl cyclase|Hypercalciuria, absorptive, 2" adenylate cyclase 10, soluble Adenylate cyclases 53 2008-01-16 2017-09-25 2023-01-20 55811 ENSG00000143199 OTTHUMG00000034573 uc001ger.4 AF271058 NM_018417 "CCDS72977|CCDS1265|CCDS53426" Q96PN6 23255611 MGI:2660854 RGD:708450 605205 168172 objectId:3068 4.6.1.1 HGNC:21285 "ENST00000367851.9|NM_018417.6" HGNC:21285 HGNC:44143 ADCY10P1 ADCY10 pseudogene 1 pseudogene pseudogene Approved 6p21.1 06p21.1 adenylate cyclase 10 (soluble) pseudogene 1 2012-06-30 2019-01-18 2019-01-18 221442 ENSG00000161912 OTTHUMG00000014668 NR_026938 PGOHUM00000243618 HGNC:44143 HGNC:241 ADCYAP1 adenylate cyclase activating polypeptide 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 PACAP "prepro-PACAP|pituitary adenylate cyclase activating polypeptide" adenylate cyclase activating polypeptide 1 (pituitary) Neuropeptides 1902 1992-12-02 2016-04-06 2023-01-20 116 ENSG00000141433 OTTHUMG00000131479 uc010dkh.5 S83513 NM_001117 CCDS11825 P18509 1730060 MGI:105094 RGD:2037 102980 ligandId:2258 HGNC:241 "ENST00000450565.8|NM_001099733.2" -HGNC:242 ADCYAP1R1 ADCYAP receptor type I protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "PAC1|PACAPR|PAC1R" "PACAP receptor 1|pituitary adenylate cyclase-activating polypeptide type 1 receptor" adenylate cyclase activating polypeptide 1 (pituitary) receptor type I Vasoactive intestinal peptide family receptors 264 1994-05-18 2016-03-14 2023-01-20 117 ENSG00000078549 OTTHUMG00000023884 uc003tca.3 NM_001118 "CCDS94076|CCDS56480|CCDS56481|CCDS5433" P41586 7902709 MGI:108449 RGD:2038 102981 objectId:370 HGNC:242 "ENST00000304166.9|NM_001118.5" -HGNC:243 ADD1 adducin 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 alpha-adducin adducin 1 (alpha) Adducin family 2050 1992-10-19 2015-11-23 2023-01-20 118 ENSG00000087274 OTTHUMG00000122080 uc003gfq.4 L07261 NM_014189 "CCDS93468|CCDS3364|CCDS75094|CCDS43205|CCDS93469|CCDS3363" P35611 1840603 MGI:87918 RGD:2041 102680 469916 HGNC:243 "ENST00000683351.1|NM_001354761.2" -HGNC:244 ADD2 adducin 2 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 ADDB beta-adducin adducin 2 (beta) Adducin family 2050 1992-10-19 2015-11-23 2023-03-15 119 ENSG00000075340 OTTHUMG00000129710 uc061kjo.1 X58199 NM_001617 "CCDS54365|CCDS1909|CCDS1906|CCDS46318" P35612 1840603 MGI:87919 RGD:2042 102681 469918 HGNC:244 "ENST00000264436.9|NM_001617.4" +HGNC:242 ADCYAP1R1 ADCYAP receptor type I protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "PAC1|PACAPR|PAC1R" "PACAP receptor 1|pituitary adenylate cyclase-activating polypeptide type 1 receptor" adenylate cyclase activating polypeptide 1 (pituitary) receptor type I Vasoactive intestinal peptide family receptors 264 1994-05-18 2016-03-14 2023-01-20 117 ENSG00000078549 OTTHUMG00000023884 uc003tca.3 NM_001118 "CCDS56481|CCDS5433|CCDS94076|CCDS56480" P41586 7902709 MGI:108449 RGD:2038 102981 objectId:370 HGNC:242 "ENST00000304166.9|NM_001118.5" +HGNC:243 ADD1 adducin 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 alpha-adducin adducin 1 (alpha) Adducin family 2050 1992-10-19 2015-11-23 2023-01-20 118 ENSG00000087274 OTTHUMG00000122080 uc003gfq.4 L07261 NM_014189 "CCDS93469|CCDS3364|CCDS75094|CCDS43205|CCDS93468|CCDS3363" P35611 1840603 MGI:87918 RGD:2041 102680 469916 HGNC:243 "ENST00000683351.1|NM_001354761.2" +HGNC:244 ADD2 adducin 2 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 ADDB beta-adducin adducin 2 (beta) Adducin family 2050 1992-10-19 2015-11-23 2023-03-15 119 ENSG00000075340 OTTHUMG00000129710 uc061kjo.1 X58199 NM_001617 "CCDS46318|CCDS1906|CCDS1909|CCDS54365" P35612 1840603 MGI:87919 RGD:2042 102681 469918 HGNC:244 "ENST00000264436.9|NM_001617.4" HGNC:245 ADD3 adducin 3 protein-coding gene gene with protein product Approved 10q25.1-q25.2 10q25.1-q25.2 gamma-adducin ADDL adducin 3 (gamma) Adducin family 2050 1997-04-10 2015-11-23 2023-01-20 120 ENSG00000148700 OTTHUMG00000019032 uc001kyv.4 U37122 NM_019903 "CCDS7561|CCDS7562" Q9UEY8 8893809 MGI:1351615 RGD:2043 601568 394916 HGNC:245 "ENST00000356080.9|NM_016824.5" HGNC:245 HGNC:48682 ADD3-AS1 ADD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 Antisense RNAs 1987 2013-06-06 2016-11-24 100505933 ENSG00000203876 OTTHUMG00000019028 NR_038943 HGNC:48682 HGNC:21212 ADGB androglobin protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "FLJ23121|dJ408K24.1|CAPN16" C6orf103 chromosome 6 open reading frame 103 Calpains 975 2003-11-25 2012-02-03 2012-02-03 2023-03-15 79747 ENSG00000118492 OTTHUMG00000015758 uc010khx.4 AK026774 NM_024694 Q8N7X0 22115833 MGI:3605549 RGD:1564259 614630 C02.972 HGNC:21212 "ENST00000397944.8|NM_024694.4" HGNC:55654 ADGB-DT ADGB divergent transcript non-coding RNA RNA, long non-coding Approved 6q24.3 06q24.3 Divergent transcripts 1990 2021-06-28 2021-06-28 101928661 ENSG00000237468 NR_125860 -HGNC:13838 ADGRA1 adhesion G protein-coupled receptor A1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 KIAA1828 GPR123 G protein-coupled receptor 123 Adhesion G protein-coupled receptors, subfamily A 911 2003-02-25 2015-03-03 2015-03-03 2023-03-15 84435 ENSG00000197177 OTTHUMG00000019304 AB058731 NM_001083909 "CCDS41580|CCDS76362" Q86SQ6 "12565841|25713288" MGI:1277167 RGD:1308241 612302 objectId:197 HGNC:13838 "ENST00000392607.8|NM_001083909.3" +HGNC:13838 ADGRA1 adhesion G protein-coupled receptor A1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 KIAA1828 GPR123 G protein-coupled receptor 123 Adhesion G protein-coupled receptors, subfamily A 911 2003-02-25 2015-03-03 2015-03-03 2023-03-15 84435 ENSG00000197177 OTTHUMG00000019304 AB058731 NM_001083909 "CCDS76362|CCDS41580" Q86SQ6 "12565841|25713288" MGI:1277167 RGD:1308241 612302 objectId:197 HGNC:13838 "ENST00000392607.8|NM_001083909.3" HGNC:49543 ADGRA1-AS1 ADGRA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 GPR123-AS1 "GPR123 antisense RNA 1|adhesion G protein-coupled receptor A1 antisense RNA 1" Antisense RNAs 1987 2014-01-10 2015-03-03 2019-12-13 2019-12-13 100128127 ENSG00000256925 OTTHUMG00000019301 NR_111905 ADGRA1-AS1 HGNC:49543 HGNC:17849 ADGRA2 adhesion G protein-coupled receptor A2 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "TEM5|DKFZp434C211|DKFZp434J0911|KIAA1531|FLJ14390" tumor endothelial marker 5 GPR124 G protein-coupled receptor 124 "Immunoglobulin like domain containing|Adhesion G protein-coupled receptors, subfamily A" "594|911" 2003-02-25 2015-03-03 2015-03-03 2023-01-20 25960 ENSG00000020181 OTTHUMG00000156182 AB040964 NM_032777 CCDS6097 Q96PE1 "11559528|12565841|25713288" MGI:1925810 RGD:2323365 606823 objectId:198 HGNC:17849 "ENST00000412232.3|NM_032777.10" HGNC:13839 ADGRA3 adhesion G protein-coupled receptor A3 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "FLJ38547|PGR21" GPR125 G protein-coupled receptor 125 "I-set domain containing|Adhesion G protein-coupled receptors, subfamily A" "593|911" 2003-02-25 2015-03-03 2015-03-03 2023-01-20 166647 ENSG00000152990 OTTHUMG00000160926 AK095866 NM_145290 CCDS33964 Q8IWK6 "12565841|25713288" MGI:1917943 RGD:1304914 612303 470398 objectId:199 HGNC:13839 "ENST00000334304.10|NM_145290.4" HGNC:55918 ADGRA3P1 ADGRA3 pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 2021-10-13 2021-10-13 100996333 ENSG00000256616 NG_032961 PGOHUM00000294591 HGNC:943 ADGRB1 adhesion G protein-coupled receptor B1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 BAI1 brain-specific angiogenesis inhibitor 1 Adhesion G protein-coupled receptors, subfamily B 912 1998-06-05 2015-03-03 2015-03-03 2023-01-20 575 ENSG00000181790 OTTHUMG00000164732 AB005297 NM_001702 "CCDS94349|CCDS64985" O14514 "9533023|25713288" MGI:1933736 RGD:1305608 602682 objectId:174 HGNC:943 "ENST00000517894.6|NM_001702.3" -HGNC:944 ADGRB2 adhesion G protein-coupled receptor B2 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 BAI2 brain-specific angiogenesis inhibitor 2 "Adhesion G protein-coupled receptors, subfamily B|MicroRNA protein coding host genes" "912|1691" 1998-06-05 2015-03-03 2015-03-03 2023-01-20 576 ENSG00000121753 OTTHUMG00000003885 AB005298 NM_001703 "CCDS346|CCDS72746|CCDS72747" O60241 "9533023|25713288" MGI:2451244 RGD:1309431 602683 objectId:175 HGNC:944 "ENST00000373658.8|NM_001364857.2" +HGNC:944 ADGRB2 adhesion G protein-coupled receptor B2 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 BAI2 brain-specific angiogenesis inhibitor 2 "Adhesion G protein-coupled receptors, subfamily B|MicroRNA protein coding host genes" "912|1691" 1998-06-05 2015-03-03 2015-03-03 2023-01-20 576 ENSG00000121753 OTTHUMG00000003885 AB005298 NM_001703 "CCDS72746|CCDS346|CCDS72747" O60241 "9533023|25713288" MGI:2451244 RGD:1309431 602683 objectId:175 HGNC:944 "ENST00000373658.8|NM_001364857.2" HGNC:945 ADGRB3 adhesion G protein-coupled receptor B3 protein-coding gene gene with protein product Approved 6q12-q13 06q12-q13 KIAA0550 BAI3 brain-specific angiogenesis inhibitor 3 Adhesion G protein-coupled receptors, subfamily B 912 1998-06-05 2015-03-03 2015-03-03 2023-01-20 577 ENSG00000135298 OTTHUMG00000014982 AB005299 NM_001704 CCDS4968 O60242 "9533023|25713288" MGI:2441837 RGD:1309703 602684 P02.027 objectId:176 HGNC:945 "ENST00000370598.6|NM_001704.3" HGNC:55774 ADGRB3-DT ADGRB3 divergent transcript non-coding RNA RNA, long non-coding Approved 6q12 06q12 "AL391807.1|RP3-525N10.2" Divergent transcripts 1990 2021-07-22 2022-10-03 101928307 ENSG00000230910 NR_125872 35879775 HGNC:19893 ADGRD1 adhesion G protein-coupled receptor D1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "DKFZp434B1272|PGR25" GPR133 G protein-coupled receptor 133 Adhesion G protein-coupled receptors, subfamily D 914 2003-11-26 2015-03-03 2015-03-03 2023-01-20 283383 ENSG00000111452 OTTHUMG00000168339 AY278561 NM_198827 "CCDS9272|CCDS81753" Q6QNK2 25713288 MGI:3041203 RGD:1594795 613639 P02.021 objectId:202 HGNC:19893 "ENST00000261654.10|NM_198827.5" HGNC:53314 ADGRD1-AS1 ADGRD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 LACAT8 lung adenocarcinoma-associated transcript 8 Antisense RNAs 1987 2017-03-22 2017-03-22 105755954 ENSG00000256151 OTTHUMG00000168346 NR_131950 25599403 HGNC:53314 HGNC:18651 ADGRD2 adhesion G protein-coupled receptor D2 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 PGR24 GPR144 G protein-coupled receptor 144 Adhesion G protein-coupled receptors, subfamily D 914 2003-11-26 2015-03-03 2015-03-03 2023-03-15 347088 ENSG00000180264 OTTHUMG00000020652 AY278562 NM_182611 CCDS94480 Q7Z7M1 25713288 P02.015 objectId:204 HGNC:18651 "ENST00000696331.1|NM_001395425.1" -HGNC:3336 ADGRE1 adhesion G protein-coupled receptor E1 protein-coding gene gene with protein product Approved 19p13.3-p13.2 19p13.3-p13.2 "TM7LN3|EMR1" "egf-like module containing, mucin-like, hormone receptor-like sequence 1|egf-like module containing, mucin-like, hormone receptor-like 1" Adhesion G protein-coupled receptors, subfamily E 915 1994-08-31 2015-03-03 2015-03-03 2023-01-20 2015 ENSG00000174837 OTTHUMG00000181966 X81479 NM_001256252 "CCDS58644|CCDS58645|CCDS12175|CCDS58643|CCDS58646" Q14246 "7601460|9500513|25713288" MGI:106912 RGD:1359214 600493 P02.004 objectId:182 HGNC:3336 "ENST00000312053.9|NM_001974.5" -HGNC:3337 ADGRE2 adhesion G protein-coupled receptor E2 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 CD312 EMR2 "egf-like module containing, mucin-like, hormone receptor-like sequence 2|egf-like module containing, mucin-like, hormone receptor-like 2" "CD molecules|Adhesion G protein-coupled receptors, subfamily E" "471|915" 2000-03-14 2015-03-03 2015-03-03 2023-03-15 30817 ENSG00000127507 OTTHUMG00000183408 AF114491 NM_001271052 "CCDS59361|CCDS32933|CCDS32934|CCDS32935" Q9UHX3 25713288 MGI:1347095 606100 P02.001 objectId:183 CD312 HGNC:3337 "ENST00000315576.8|NM_013447.4" HGNC:3337 +HGNC:3336 ADGRE1 adhesion G protein-coupled receptor E1 protein-coding gene gene with protein product Approved 19p13.3-p13.2 19p13.3-p13.2 "TM7LN3|EMR1" "egf-like module containing, mucin-like, hormone receptor-like sequence 1|egf-like module containing, mucin-like, hormone receptor-like 1" Adhesion G protein-coupled receptors, subfamily E 915 1994-08-31 2015-03-03 2015-03-03 2023-01-20 2015 ENSG00000174837 OTTHUMG00000181966 X81479 NM_001256252 "CCDS58644|CCDS58646|CCDS58643|CCDS58645|CCDS12175" Q14246 "7601460|9500513|25713288" MGI:106912 RGD:1359214 600493 P02.004 objectId:182 HGNC:3336 "ENST00000312053.9|NM_001974.5" +HGNC:3337 ADGRE2 adhesion G protein-coupled receptor E2 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 CD312 EMR2 "egf-like module containing, mucin-like, hormone receptor-like sequence 2|egf-like module containing, mucin-like, hormone receptor-like 2" "CD molecules|Adhesion G protein-coupled receptors, subfamily E" "471|915" 2000-03-14 2015-03-03 2015-03-03 2023-03-15 30817 ENSG00000127507 OTTHUMG00000183408 AF114491 NM_001271052 "CCDS32934|CCDS59361|CCDS32933|CCDS32935" Q9UHX3 25713288 MGI:1347095 606100 P02.001 objectId:183 CD312 HGNC:3337 "ENST00000315576.8|NM_013447.4" HGNC:3337 HGNC:23647 ADGRE3 adhesion G protein-coupled receptor E3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 EMR3 egf-like module containing, mucin-like, hormone receptor-like 3 Adhesion G protein-coupled receptors, subfamily E 915 2003-11-26 2015-03-03 2015-03-03 2023-01-20 84658 ENSG00000131355 OTTHUMG00000183406 AF239764 NM_032571 "CCDS74296|CCDS74297|CCDS12315" Q9BY15 "11279179|12975309|25713288" 606101 P02.003 objectId:184 HGNC:23647 "ENST00000253673.6|NM_032571.5" HGNC:19240 ADGRE4P adhesion G protein-coupled receptor E4, pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 PGR16 "GPR127|EMR4|EMR4P" "G protein-coupled receptor 127|egf-like module containing, mucin-like, hormone receptor-like 4|egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene" Adhesion G protein-coupled receptors, subfamily E 915 2003-02-25 2015-03-03 2015-03-03 2020-04-20 326342 ENSG00000268758 OTTHUMG00000177251 AY181245 NR_024075 Q86SQ3 "12565841|25713288" MGI:1196464 RGD:1359641 612305 PGOHUM00000259297 P02.005 objectId:185 HGNC:19240 -HGNC:1711 ADGRE5 adhesion G protein-coupled receptor E5 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 TM7LN1 "leukocyte antigen CD97|seven-span transmembrane protein|seven-transmembrane, heterodimeric receptor associated with inflammation|seven transmembrane helix receptor" CD97 "CD97 antigen|CD97 molecule" "CD molecules|Adhesion G protein-coupled receptors, subfamily E" "471|915" 1995-11-29 2015-03-03 2015-03-03 2023-01-20 976 ENSG00000123146 OTTHUMG00000182166 NM_078481 "CCDS32929|CCDS32930|CCDS32931" P48960 "7636245|8786105|25713288" MGI:1347095 RGD:1305595 601211 P02.002 objectId:177 CD97 HGNC:1711 "ENST00000242786.6|NM_078481.4" -HGNC:18990 ADGRF1 adhesion G protein-coupled receptor F1 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "hGPCR36|PGR19" GPR110 G protein-coupled receptor 110 Adhesion G protein-coupled receptors, subfamily F 916 2002-11-26 2015-03-03 2015-03-03 2023-01-20 266977 ENSG00000153292 OTTHUMG00000014795 AB083618 NM_153840 "CCDS34471|CCDS4920" Q5T601 "12435584|14623098|25713288" MGI:1924846 RGD:1310285 617430 P02.022 objectId:190 HGNC:18990 "ENST00000371253.7|NM_153840.4" +HGNC:1711 ADGRE5 adhesion G protein-coupled receptor E5 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 TM7LN1 "leukocyte antigen CD97|seven-span transmembrane protein|seven-transmembrane, heterodimeric receptor associated with inflammation|seven transmembrane helix receptor" CD97 "CD97 antigen|CD97 molecule" "CD molecules|Adhesion G protein-coupled receptors, subfamily E" "471|915" 1995-11-29 2015-03-03 2015-03-03 2023-01-20 976 ENSG00000123146 OTTHUMG00000182166 NM_078481 "CCDS32930|CCDS32931|CCDS32929" P48960 "7636245|8786105|25713288" MGI:1347095 RGD:1305595 601211 P02.002 objectId:177 CD97 HGNC:1711 "ENST00000242786.6|NM_078481.4" +HGNC:18990 ADGRF1 adhesion G protein-coupled receptor F1 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "hGPCR36|PGR19" GPR110 G protein-coupled receptor 110 Adhesion G protein-coupled receptors, subfamily F 916 2002-11-26 2015-03-03 2015-03-03 2023-01-20 266977 ENSG00000153292 OTTHUMG00000014795 AB083618 NM_153840 "CCDS4920|CCDS34471" Q5T601 "12435584|14623098|25713288" MGI:1924846 RGD:1310285 617430 P02.022 objectId:190 HGNC:18990 "ENST00000371253.7|NM_153840.4" HGNC:18991 ADGRF2P adhesion G protein-coupled receptor F2, pseudogene pseudogene pseudogene Approved 6p12.3 06p12.3 "hGPCR35|PGR20" "GPR111|ADGRF2" "G protein-coupled receptor 111|adhesion G protein-coupled receptor F2" Adhesion G protein-coupled receptors, subfamily F 916 2002-11-26 2023-03-27 2023-03-27 2023-03-27 222611 ENSG00000164393 OTTHUMG00000046168 AB065684 NM_153839 Q8IZF7 "12435584|25713288" MGI:2182728 RGD:1306718 objectId:191 HGNC:18991 -HGNC:18989 ADGRF3 adhesion G protein-coupled receptor F3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "hGPCR37|PGR23" GPR113 G protein-coupled receptor 113 Adhesion G protein-coupled receptors, subfamily F 916 2002-11-26 2015-03-03 2015-03-03 2023-01-20 165082 ENSG00000173567 OTTHUMG00000150225 AB083619 NM_153835 "CCDS46238|CCDS46239|CCDS33159|CCDS92721" Q8IZF5 "12435584|25713288" MGI:2685887 RGD:1305868 P02.028 objectId:193 HGNC:18989 "ENST00000651242.2|NM_001321971.2" +HGNC:18989 ADGRF3 adhesion G protein-coupled receptor F3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "hGPCR37|PGR23" GPR113 G protein-coupled receptor 113 Adhesion G protein-coupled receptors, subfamily F 916 2002-11-26 2015-03-03 2015-03-03 2023-01-20 165082 ENSG00000173567 OTTHUMG00000150225 AB083619 NM_153835 "CCDS33159|CCDS92721|CCDS46238|CCDS46239" Q8IZF5 "12435584|25713288" MGI:2685887 RGD:1305868 P02.028 objectId:193 HGNC:18989 "ENST00000651242.2|NM_001321971.2" HGNC:19011 ADGRF4 adhesion G protein-coupled receptor F4 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "FLJ38076|PGR18" GPR115 G protein-coupled receptor 115 Adhesion G protein-coupled receptors, subfamily F 916 2002-11-26 2015-03-03 2015-03-03 2023-01-20 221393 ENSG00000153294 OTTHUMG00000014800 AK095395 NM_153838 CCDS4922 Q8IZF3 "12435584|25713288" MGI:1925499 RGD:1565216 614268 objectId:195 HGNC:19011 "ENST00000283303.3|NM_153838.5" HGNC:19030 ADGRF5 adhesion G protein-coupled receptor F5 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "DKFZp564O1923|KIAA0758" GPR116 G protein-coupled receptor 116 "I-set domain containing|Immunoglobulin like domain containing|Adhesion G protein-coupled receptors, subfamily F" "593|594|916" 2002-11-26 2015-03-03 2015-03-03 2023-01-20 221395 ENSG00000069122 OTTHUMG00000014793 AB018301 NM_015234 CCDS4919 Q8IZF2 "12435584|25713288" MGI:2182928 RGD:621679 P02.019 objectId:196 HGNC:19030 "ENST00000283296.12|NM_001098518.2" HGNC:40864 ADGRF5-AS1 ADGRF5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.3 06p12.3 Antisense RNAs 1987 2019-08-02 2019-08-02 101926962 ENSG00000225730 OTTHUMG00000014794 NR_110658 HGNC:40864 HGNC:32922 ADGRF5P1 adhesion G protein-coupled receptor F5 pseudogene 1 pseudogene pseudogene Approved 9q13 09q13 GPR116P1 G protein-coupled receptor 116 pseudogene 1 2006-05-26 2015-03-03 2015-03-03 2020-04-20 389740 ENSG00000227582 OTTHUMG00000058166 NG_021620 PGOHUM00000303863 HGNC:32922 HGNC:32921 ADGRF5P2 adhesion G protein-coupled receptor F5 pseudogene 2 pseudogene pseudogene Approved 9p11.1 09p11.1 GPR116P2 G protein-coupled receptor 116 pseudogene 2 2006-05-26 2015-03-03 2015-03-03 2020-04-20 441416 ENSG00000204818 OTTHUMG00000013558 NG_021616 PGOHUM00000304223 HGNC:32921 -HGNC:4512 ADGRG1 adhesion G protein-coupled receptor G1 protein-coding gene gene with protein product Approved 16q21 16q21 "TM7LN4|TM7XN1" GPR56 G protein-coupled receptor 56 Adhesion G protein-coupled receptors, subfamily G 917 1998-10-12 2015-03-03 2015-03-03 2023-01-20 9289 ENSG00000205336 OTTHUMG00000176742 AJ011001 NM_001145770 "CCDS32461|CCDS73893|CCDS32460" Q9Y653 "10049584|10100861|25713288" MGI:1340051 RGD:628617 604110 122266 objectId:186 HGNC:4512 "ENST00000562631.7|NM_201525.4" HGNC:4512 -HGNC:4516 ADGRG2 adhesion G protein-coupled receptor G2 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "HE6|TM7LN2|EDDM6" epididymal protein 6 GPR64 G protein-coupled receptor 64 Adhesion G protein-coupled receptors, subfamily G 917 1999-10-22 2015-03-03 2015-03-03 2023-01-20 10149 ENSG00000173698 OTTHUMG00000021223 X81892 NM_001079858 "CCDS55377|CCDS55378|CCDS43923|CCDS55376|CCDS43921|CCDS14191|CCDS55379|CCDS43922" Q8IZP9 "9739419|9150425|25713288" MGI:2446854 RGD:628618 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR64 300572 466348 objectId:187 HGNC:4516 "ENST00000379869.8|NM_001079858.3" HGNC:4516 +HGNC:4512 ADGRG1 adhesion G protein-coupled receptor G1 protein-coding gene gene with protein product Approved 16q21 16q21 "TM7LN4|TM7XN1" GPR56 G protein-coupled receptor 56 Adhesion G protein-coupled receptors, subfamily G 917 1998-10-12 2015-03-03 2015-03-03 2023-01-20 9289 ENSG00000205336 OTTHUMG00000176742 AJ011001 NM_001145770 "CCDS73893|CCDS32460|CCDS32461" Q9Y653 "10049584|10100861|25713288" MGI:1340051 RGD:628617 604110 122266 objectId:186 HGNC:4512 "ENST00000562631.7|NM_201525.4" HGNC:4512 +HGNC:4516 ADGRG2 adhesion G protein-coupled receptor G2 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "HE6|TM7LN2|EDDM6" epididymal protein 6 GPR64 G protein-coupled receptor 64 Adhesion G protein-coupled receptors, subfamily G 917 1999-10-22 2015-03-03 2015-03-03 2023-01-20 10149 ENSG00000173698 OTTHUMG00000021223 X81892 NM_001079858 "CCDS43923|CCDS14191|CCDS55377|CCDS43921|CCDS55376|CCDS55379|CCDS55378|CCDS43922" Q8IZP9 "9739419|9150425|25713288" MGI:2446854 RGD:628618 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR64 300572 466348 objectId:187 HGNC:4516 "ENST00000379869.8|NM_001079858.3" HGNC:4516 HGNC:13728 ADGRG3 adhesion G protein-coupled receptor G3 protein-coding gene gene with protein product Approved 16q21 16q21 "Pb99|PGR26" GPR97 G protein-coupled receptor 97 Adhesion G protein-coupled receptors, subfamily G 917 2000-10-20 2015-03-03 2015-03-03 2023-01-20 222487 ENSG00000182885 OTTHUMG00000133458 AY140959 NM_170776 "CCDS76879|CCDS10786" Q86Y34 "12435584|25713288" MGI:1859670 RGD:1305674 618441 P02.023 objectId:188 HGNC:13728 "ENST00000333493.9|NM_170776.5" HGNC:18992 ADGRG4 adhesion G protein-coupled receptor G4 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "RP1-299I16|PGR17" GPR112 G protein-coupled receptor 112 Adhesion G protein-coupled receptors, subfamily G 917 2002-11-26 2015-03-03 2015-03-03 2023-01-20 139378 ENSG00000156920 OTTHUMG00000022508 AY140954 NM_153834 CCDS35409 Q8IZF6 "12435584|25713288" MGI:2685213 RGD:1564057 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR112 301085 P02.014 objectId:192 HGNC:18992 "ENST00000394143.6|NM_153834.4" HGNC:18992 HGNC:19010 ADGRG5 adhesion G protein-coupled receptor G5 protein-coding gene gene with protein product Approved 16q21 16q21 PGR27 GPR114 G protein-coupled receptor 114 Adhesion G protein-coupled receptors, subfamily G 917 2002-11-26 2015-03-03 2015-03-03 2023-01-20 221188 ENSG00000159618 OTTHUMG00000133461 AY140956 NM_153837 CCDS10785 Q8IZF4 "12435584|25713288" MGI:2685955 RGD:1305559 616965 P02.016 objectId:194 HGNC:19010 "ENST00000349457.8|NM_001304376.3" -HGNC:13841 ADGRG6 adhesion G protein-coupled receptor G6 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 FLJ14937 GPR126 G protein-coupled receptor 126 Adhesion G protein-coupled receptors, subfamily G 917 2003-02-25 2015-03-03 2015-03-03 2023-01-20 57211 ENSG00000112414 OTTHUMG00000015709 AK027843 NM_001032394 "CCDS47491|CCDS55064|CCDS47489|CCDS47490" Q86SQ4 "12565841|25118328|25713288" MGI:1916151 RGD:1308551 612243 469920 P02.017 objectId:200 HGNC:13841 "ENST00000367609.8|NM_198569.3" HGNC:13841 -HGNC:19241 ADGRG7 adhesion G protein-coupled receptor G7 protein-coding gene gene with protein product Approved 3q12.2 03q12.2 FLJ14454 GPR128 G protein-coupled receptor 128 Adhesion G protein-coupled receptors, subfamily G 917 2003-02-25 2015-03-03 2015-03-03 2023-01-20 84873 ENSG00000144820 OTTHUMG00000159083 AK027360 NM_001308362 "CCDS2938|CCDS77778" Q96K78 25713288 MGI:2441732 RGD:1307217 612307 objectId:201 HGNC:19241 "ENST00000273352.8|NM_032787.3" +HGNC:13841 ADGRG6 adhesion G protein-coupled receptor G6 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 FLJ14937 GPR126 G protein-coupled receptor 126 Adhesion G protein-coupled receptors, subfamily G 917 2003-02-25 2015-03-03 2015-03-03 2023-01-20 57211 ENSG00000112414 OTTHUMG00000015709 AK027843 NM_001032394 "CCDS47489|CCDS55064|CCDS47490|CCDS47491" Q86SQ4 "12565841|25118328|25713288" MGI:1916151 RGD:1308551 612243 469920 P02.017 objectId:200 HGNC:13841 "ENST00000367609.8|NM_198569.3" HGNC:13841 +HGNC:19241 ADGRG7 adhesion G protein-coupled receptor G7 protein-coding gene gene with protein product Approved 3q12.2 03q12.2 FLJ14454 GPR128 G protein-coupled receptor 128 Adhesion G protein-coupled receptors, subfamily G 917 2003-02-25 2015-03-03 2015-03-03 2023-01-20 84873 ENSG00000144820 OTTHUMG00000159083 AK027360 NM_001308362 "CCDS77778|CCDS2938" Q96K78 25713288 MGI:2441732 RGD:1307217 612307 objectId:201 HGNC:19241 "ENST00000273352.8|NM_032787.3" HGNC:20973 ADGRL1 adhesion G protein-coupled receptor L1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "KIAA0821|CIRL1|LEC2" LPHN1 latrophilin 1 Adhesion G protein-coupled receptors, subfamily L 918 2003-04-25 2015-03-03 2015-03-03 2023-01-20 22859 ENSG00000072071 OTTHUMG00000182138 AB020628 NM_014921 "CCDS32928|CCDS12307" O94910 "10994649|25713288" MGI:1929461 RGD:620768 616416 P02.010 objectId:206 HGNC:20973 "ENST00000361434.8|NM_014921.5" HGNC:55309 ADGRL1-AS1 ADGRL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 Antisense RNAs 1987 2020-10-19 2020-10-19 100507373 ENSG00000267169 NR_045214 -HGNC:18582 ADGRL2 adhesion G protein-coupled receptor L2 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KIAA0786|LEC1|CIRL2" calcium-independent alpha-latrotoxin receptor 2 "LPHH1|LPHN2" "latrophilin 1|latrophilin 2" Adhesion G protein-coupled receptors, subfamily L 918 2002-04-26 2015-03-03 2015-03-03 2023-01-20 23266 ENSG00000117114 OTTHUMG00000009844 AJ131581 NM_012302 "CCDS81345|CCDS76174|CCDS90990|CCDS689|CCDS90988|CCDS90986|CCDS72811" O95490 "10760572|25713288" MGI:2139714 RGD:620835 607018 objectId:207 HGNC:18582 "ENST00000686636.1|NM_001366006.2" -HGNC:20974 ADGRL3 adhesion G protein-coupled receptor L3 protein-coding gene gene with protein product Approved 4q13.1 04q13.1 "KIAA0768|LEC3" LPHN3 latrophilin 3 Adhesion G protein-coupled receptors, subfamily L 918 2003-04-25 2015-03-03 2015-03-03 2023-01-20 23284 ENSG00000150471 OTTHUMG00000160690 AB018311 NM_001322246 "CCDS54768|CCDS93541|CCDS93538|CCDS93539|CCDS82926" Q9HAR2 "10994649|25713288" MGI:2441950 RGD:620836 616417 P02.011 objectId:208 HGNC:20974 "ENST00000683033.1|NM_001387552.1" +HGNC:18582 ADGRL2 adhesion G protein-coupled receptor L2 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KIAA0786|LEC1|CIRL2" calcium-independent alpha-latrotoxin receptor 2 "LPHH1|LPHN2" "latrophilin 1|latrophilin 2" Adhesion G protein-coupled receptors, subfamily L 918 2002-04-26 2015-03-03 2015-03-03 2023-01-20 23266 ENSG00000117114 OTTHUMG00000009844 AJ131581 NM_012302 "CCDS90988|CCDS90986|CCDS76174|CCDS90990|CCDS72811|CCDS689|CCDS81345" O95490 "10760572|25713288" MGI:2139714 RGD:620835 607018 objectId:207 HGNC:18582 "ENST00000686636.1|NM_001366006.2" +HGNC:20974 ADGRL3 adhesion G protein-coupled receptor L3 protein-coding gene gene with protein product Approved 4q13.1 04q13.1 "KIAA0768|LEC3" LPHN3 latrophilin 3 Adhesion G protein-coupled receptors, subfamily L 918 2003-04-25 2015-03-03 2015-03-03 2023-01-20 23284 ENSG00000150471 OTTHUMG00000160690 AB018311 NM_001322246 "CCDS82926|CCDS93539|CCDS93541|CCDS54768|CCDS93538" Q9HAR2 "10994649|25713288" MGI:2441950 RGD:620836 616417 P02.011 objectId:208 HGNC:20974 "ENST00000683033.1|NM_001387552.1" HGNC:50604 ADGRL3-AS1 ADGRL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q13.1 04q13.1 LPHN3-AS1 "LPHN3 antisense RNA 1|adhesion G protein-coupled receptor L3 antisense RNA 1" Antisense RNAs 1987 2014-05-22 2015-03-03 2019-12-13 2023-03-14 101927186 ENSG00000248692 OTTHUMG00000160691 NR_110595 32139545 ADGRL3-AS1 HGNC:50604 HGNC:20822 ADGRL4 adhesion G protein-coupled receptor L4 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 ETL ELTD1 EGF, latrophilin and seven transmembrane domain containing 1 Adhesion G protein-coupled receptors, subfamily L 918 2003-04-29 2015-03-03 2015-03-03 2023-01-20 64123 ENSG00000162618 OTTHUMG00000009738 AF192403 NM_022159 CCDS41352 Q9HBW9 "11050079|25713288" MGI:2655562 RGD:621136 616419 P02.013 objectId:181 HGNC:20822 "ENST00000370742.4|NM_022159.4" HGNC:17416 ADGRV1 adhesion G protein-coupled receptor V1 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "DKFZp761P0710|KIAA0686|FEB4|VLGR1" "USH2C|MASS1|GPR98" "monogenic, audiogenic seizure susceptibility 1 homolog (mouse)|G protein-coupled receptor 98" "Adhesion G protein-coupled receptors, subfamily V|USH2 complex " "919|1244" 2002-09-17 2015-03-03 2015-03-03 2023-01-20 84059 ENSG00000164199 OTTHUMG00000162668 AB014586 NM_032119 CCDS47246 Q8WXG9 "10976914|14740321|25713288" MGI:1274784 RGD:1562101 LRG_1095|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1095.xml 602851 122270 objectId:189 HGNC:17416 "ENST00000405460.9|NM_032119.4" HGNC:17416 HGNC:249 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH1 Alcohol dehydrogenases 397 1986-01-01 2023-01-20 124 ENSG00000187758 OTTHUMG00000131026 uc003hur.3 M12963 NM_000667 CCDS3648 P07327 3006456 MGI:87921 103700 1.1.1.1 HGNC:249 "ENST00000209668.3|NM_000667.4" -HGNC:250 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH2 Alcohol dehydrogenases 397 1986-01-01 2007-11-06 2023-01-20 125 ENSG00000196616 OTTHUMG00000161413 uc003hus.6 AF153821 NM_000668 "CCDS68761|CCDS34033" P00325 3006456 MGI:87921 103720 469922 1.1.1.1 HGNC:250 "ENST00000305046.13|NM_000668.6" +HGNC:250 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH2 Alcohol dehydrogenases 397 1986-01-01 2007-11-06 2023-01-20 125 ENSG00000196616 OTTHUMG00000161413 uc003hus.6 AF153821 NM_000668 "CCDS34033|CCDS68761" P00325 3006456 MGI:87921 103720 469922 1.1.1.1 HGNC:250 "ENST00000305046.13|NM_000668.6" HGNC:251 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH3 Alcohol dehydrogenases 397 1986-01-01 2023-01-20 126 ENSG00000248144 OTTHUMG00000161422 uc032trd.2 M12272 NM_000669 CCDS54780 P00326 3006456 MGI:87921 RGD:2044 103730 469924 1.1.1.1 HGNC:251 "ENST00000515683.6|NM_000669.5" -HGNC:252 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH-2 Alcohol dehydrogenases 397 1989-05-19 2023-01-20 127 ENSG00000198099 OTTHUMG00000161227 uc003hun.4 M15943 NM_000670 "CCDS77942|CCDS34032" P08319 MGI:1349472 RGD:71028 103740 1.1.1.1 HGNC:252 "ENST00000265512.12|NM_000670.5" +HGNC:252 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH-2 Alcohol dehydrogenases 397 1989-05-19 2023-01-20 127 ENSG00000198099 OTTHUMG00000161227 uc003hun.4 M15943 NM_000670 "CCDS34032|CCDS77942" P08319 MGI:1349472 RGD:71028 103740 1.1.1.1 HGNC:252 "ENST00000265512.12|NM_000670.5" HGNC:253 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 "ADH-3|ADHX|GSNOR" S-nitrosoglutathione reductase FDH formaldehyde dehydrogenase Alcohol dehydrogenases 397 1986-01-01 2003-06-19 2023-01-20 128 ENSG00000197894 OTTHUMG00000161230 uc003hui.5 M29872 NM_000671 CCDS47111 P11766 "1446828|6424546" MGI:87929 RGD:2292706 103710 "1.1.1.1|1.1.1.284" HGNC:253 "ENST00000296412.14|NM_000671.4" HGNC:22976 ADH5P2 ADH5 pseudogene 2 pseudogene pseudogene Approved 1p31.1 01p31.1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2 2003-08-13 2019-01-18 2020-04-20 343296 ENSG00000232676 OTTHUMG00000009701 NG_008685 HGNC:22976 HGNC:22991 ADH5P3 ADH5 pseudogene 3 pseudogene pseudogene Approved 1q43 01q43 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 2003-08-13 2019-01-18 2020-04-20 100131810 ENSG00000223694 OTTHUMG00000039885 NG_008686 HGNC:22991 @@ -541,7 +541,7 @@ HGNC:24041 ADIPOR2 adiponectin receptor 2 protein-coding gene gene with protein HGNC:24043 ADIRF adipogenesis regulatory factor protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "APM2|AFRO" "adipose specific 2|adipose most abundant gene transcript 2|adipogenesis factor rich in obesity" C10orf116 chromosome 10 open reading frame 116 2004-04-20 2013-02-20 2013-02-20 2023-01-20 10974 ENSG00000148671 OTTHUMG00000018668 uc001ked.3 BC004471 NM_006829 CCDS7381 Q15847 "8619847|23239344" HGNC:24043 "ENST00000372013.8|NM_006829.3" HGNC:45127 ADIRF-AS1 ADIRF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.2 10q23.2 Antisense RNAs 1987 2013-02-20 2022-02-24 100133190 ENSG00000272734 OTTHUMG00000185998 uc057uqy.1 AK128041 NR_170177 35196590 ADIRF-AS1 HGNC:15873 ADISSP adipose secreted signaling protein protein-coding gene gene with protein product Approved 20p13 20p13 FLJ20550 hypothetical protein LOC54976 C20orf27 chromosome 20 open reading frame 27 2001-06-21 2022-12-12 2022-12-12 2023-03-15 54976 ENSG00000101220 OTTHUMG00000031753 uc002wji.3 AK000557 NM_001039140 "CCDS33436|CCDS58763" Q9GZN8 "11780052|32024300|36496438" MGI:1914576 RGD:1311739 620373 HGNC:15873 "ENST00000379772.4|NM_001258429.2" -HGNC:257 ADK adenosine kinase protein-coding gene gene with protein product Approved 10q22.2 10q22.2 AK adenosine 5'-phosphotransferase 1986-01-01 2023-01-20 132 ENSG00000156110 OTTHUMG00000018506 uc001jwi.4 U50196 NM_006721 "CCDS91270|CCDS7343|CCDS7344|CCDS55717|CCDS55716" P55263 8577746 MGI:87930 RGD:2046 102750 289298 objectId:1231 2.7.1.20 HGNC:257 "ENST00000539909.6|NM_006721.4" HGNC:257 +HGNC:257 ADK adenosine kinase protein-coding gene gene with protein product Approved 10q22.2 10q22.2 AK adenosine 5'-phosphotransferase 1986-01-01 2023-01-20 132 ENSG00000156110 OTTHUMG00000018506 uc001jwi.4 U50196 NM_006721 "CCDS91270|CCDS7344|CCDS7343|CCDS55716|CCDS55717" P55263 8577746 MGI:87930 RGD:2046 102750 289298 objectId:1231 2.7.1.20 HGNC:257 "ENST00000539909.6|NM_006721.4" HGNC:257 HGNC:259 ADM adrenomedullin protein-coding gene gene with protein product Approved 11p15.4 11p15.4 AM Neuropeptides 1902 1994-12-15 2023-01-20 133 ENSG00000148926 OTTHUMG00000165907 uc001mil.2 D14874 NM_001124 CCDS7801 P35318 7688224 MGI:108058 RGD:2047 103275 ligandId:683 HGNC:259 "ENST00000278175.10|NM_001124.3" HGNC:55516 ADM-DT ADM divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Divergent transcripts 1990 2021-03-17 2021-03-17 105376544 ENSG00000254554 HGNC:28898 ADM2 adrenomedullin 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "AM2|FLJ21135" Neuropeptides 1902 2004-02-04 2023-01-20 79924 ENSG00000128165 OTTHUMG00000150202 uc003blj.4 AF529213 NM_024866 CCDS33682 Q7Z4H4 14706825 MGI:2675256 RGD:1302971 608682 ligandId:684 HGNC:28898 "ENST00000395737.2|NM_001253845.2" @@ -555,14 +555,14 @@ HGNC:263 ADORA2A adenosine A2a receptor protein-coding gene gene with protein pr HGNC:37122 ADORA2A-AS1 ADORA2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 FLJ34651 C22orf45 chromosome 22 open reading frame 45 Antisense RNAs 1987 2009-08-15 2012-10-11 2012-10-11 2016-11-09 646023 ENSG00000178803 OTTHUMG00000150735 uc062cjs.1 AK091970 NR_028483 P86434 19726446 ADORA2A-AS1 HGNC:37122 HGNC:264 ADORA2B adenosine A2b receptor protein-coding gene gene with protein product Approved 17p12 17p12 Adenosine receptors 211 1993-01-19 2023-01-20 136 ENSG00000170425 OTTHUMG00000059140 uc002gpd.2 M97759 NM_000676 CCDS11173 P29275 7558011 MGI:99403 RGD:2050 600446 objectId:20 HGNC:264 "ENST00000304222.3|NM_000676.4" HGNC:265 ADORA2BP1 adenosine A2b receptor pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 ADORA2BP adenosine A2b receptor pseudogene 1995-08-29 2010-01-12 2010-01-12 2014-02-13 137 ENSG00000236136 OTTHUMG00000036482 NG_000843 7558011 PGOHUM00000245194 HGNC:265 -HGNC:268 ADORA3 adenosine A3 receptor protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "AD026|A3AR" "Adenosine receptors|V-set domain containing" "211|590" 1993-12-13 2023-01-20 140 ENSG00000282608 OTTHUMG00000011957 uc001ebh.5 BC029831 "NM_000677|NM_020683" "CCDS81358|CCDS839" P0DMS8 7607699 MGI:104847 RGD:2051 LRG_424|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_424.xml 600445 objectId:21 HGNC:268 "ENST00000241356.5|NM_000677.4" +HGNC:268 ADORA3 adenosine A3 receptor protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "AD026|A3AR" "Adenosine receptors|V-set domain containing" "211|590" 1993-12-13 2023-01-20 140 ENSG00000282608 OTTHUMG00000011957 uc001ebh.5 BC029831 "NM_000677|NM_020683" "CCDS839|CCDS81358" P0DMS8 7607699 MGI:104847 RGD:2051 LRG_424|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_424.xml 600445 objectId:21 HGNC:268 "ENST00000241356.5|NM_000677.4" HGNC:25250 ADPGK ADP dependent glucokinase protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "DKFZp434B195|ADP-GK" 2004-09-29 2016-06-08 2023-01-20 83440 ENSG00000159322 OTTHUMG00000172777 uc002avf.5 AL136873 NM_031284 "CCDS42057|CCDS92041" Q9BRR6 11230166 MGI:1919391 RGD:1306103 611861 HGNC:25250 "ENST00000456471.3|NM_001365225.1" HGNC:44144 ADPGK-AS1 ADPGK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 ADPGK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2019-07-11 100287559 ENSG00000260898 OTTHUMG00000173100 uc002avk.1 AK127877 NR_040107 "29667486|31264061" ADPGK-AS1 HGNC:44144 HGNC:269 ADPRH ADP-ribosylarginine hydrolase protein-coding gene gene with protein product Approved 3q13.33 03q13.33 ARH1 [Protein ADP-ribosylarginine] hydrolase 1997-06-20 2023-01-20 141 ENSG00000144843 OTTHUMG00000159420 uc062mux.1 L13291 NM_001125 CCDS2990 P54922 "8349667|12070318" MGI:1098234 RGD:2052 603081 3.2.2.19 HGNC:269 "ENST00000357003.8|NM_001125.4" -HGNC:21303 ADPRHL1 ADP-ribosylhydrolase like 1 protein-coding gene gene with protein product Approved 13q34 13q34 ARH2 ADP-ribosylarginine hydrolase like 1 2003-06-19 2023-01-20 113622 ENSG00000153531 OTTHUMG00000017386 uc001vtq.3 AJ313429 NM_138430 "CCDS9536|CCDS91841|CCDS91840|CCDS9535" Q8NDY3 "12070318|27217161" MGI:2442168 RGD:1305641 610620 HGNC:21303 "ENST00000612156.3|NM_001394807.1" +HGNC:21303 ADPRHL1 ADP-ribosylhydrolase like 1 protein-coding gene gene with protein product Approved 13q34 13q34 ARH2 ADP-ribosylarginine hydrolase like 1 2003-06-19 2023-01-20 113622 ENSG00000153531 OTTHUMG00000017386 uc001vtq.3 AJ313429 NM_138430 "CCDS9536|CCDS9535|CCDS91841|CCDS91840" Q8NDY3 "12070318|27217161" MGI:2442168 RGD:1305641 610620 HGNC:21303 "ENST00000612156.3|NM_001394807.1" HGNC:30925 ADPRM ADP-ribose/CDP-alcohol diphosphatase, manganese dependent protein-coding gene gene with protein product Approved 17p13.1 17p13.1 MDS006 C17orf48 "chromosome 17 open reading frame 48|ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent" Sugar phosphatases 1073 2005-12-13 2012-07-20 2016-03-24 2023-01-20 56985 ENSG00000170222 OTTHUMG00000130366 uc002gmt.4 BC070155 NM_020233 CCDS11159 Q3LIE5 18352857 MGI:1913608 RGD:1309906 "3.6.1.13|3.6.1.16|3.6.1.53" HGNC:30925 "ENST00000379774.5|NM_020233.5" HGNC:21304 ADPRS ADP-ribosylserine hydrolase protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "ARH3|FLJ20446" ADP-ribosylarginine hydrolase like 2 ADPRHL2 ADP-ribosylhydrolase like 2 2003-06-19 2019-11-01 2019-11-01 2023-01-20 54936 ENSG00000116863 OTTHUMG00000007628 uc001bzt.4 AJ427295 NM_017825 CCDS402 Q9NX46 "12070318|16278211|30472116" MGI:2140364 RGD:1309068 610624 HGNC:21304 "ENST00000373178.5|NM_017825.3" -HGNC:277 ADRA1A adrenoceptor alpha 1A protein-coding gene gene with protein product Approved 8p21.2 08p21.2 ADRA1L1 ADRA1C adrenergic, alpha-1A-, receptor Adrenoceptors 169 1991-08-19 2012-05-09 2023-01-20 148 ENSG00000120907 OTTHUMG00000099459 uc010lun.2 L31774 NM_033303 "CCDS6054|CCDS6053|CCDS6052|CCDS83269|CCDS34869" P35348 16685204 MGI:104773 RGD:2055 104221 objectId:22 HGNC:277 "ENST00000380573.4|NM_000680.4" +HGNC:277 ADRA1A adrenoceptor alpha 1A protein-coding gene gene with protein product Approved 8p21.2 08p21.2 ADRA1L1 ADRA1C adrenergic, alpha-1A-, receptor Adrenoceptors 169 1991-08-19 2012-05-09 2023-01-20 148 ENSG00000120907 OTTHUMG00000099459 uc010lun.2 L31774 NM_033303 "CCDS6054|CCDS83269|CCDS34869|CCDS6053|CCDS6052" P35348 16685204 MGI:104773 RGD:2055 104221 objectId:22 HGNC:277 "ENST00000380573.4|NM_000680.4" HGNC:278 ADRA1B adrenoceptor alpha 1B protein-coding gene gene with protein product Approved 5q33.3 05q33.3 adrenergic, alpha-1B-, receptor Adrenoceptors 169 1991-06-04 2012-05-09 2023-01-20 147 ENSG00000170214 OTTHUMG00000130327 uc003lxt.2 L31773 NM_000679 CCDS4347 P35368 7698768 MGI:104774 RGD:2054 104220 objectId:23 HGNC:278 "ENST00000306675.5|NM_000679.4" HGNC:280 ADRA1D adrenoceptor alpha 1D protein-coding gene gene with protein product Approved 20p13 20p13 "ADRA1R|ADRA1A|ADRA1" adrenergic, alpha-1D-, receptor Adrenoceptors 169 1990-09-10 2012-05-09 2023-01-20 146 ENSG00000171873 OTTHUMG00000031779 uc002wkr.3 U03864 NM_000678 CCDS13079 P25100 8039425 MGI:106673 RGD:62064 104219 objectId:24 HGNC:280 "ENST00000379453.6|NM_000678.4" HGNC:281 ADRA2A adrenoceptor alpha 2A protein-coding gene gene with protein product Approved 10q25.2 10q25.2 ADRAR "alpha-2AAR subtype C10|alpha-2A-adrenergic receptor" "ADRA2|ADRA2R" adrenergic, alpha-2A-, receptor Adrenoceptors 169 1990-09-10 2012-05-09 2023-01-20 150 ENSG00000150594 OTTHUMG00000019050 uc001kzo.4 AF284095 NM_000681 CCDS7569 P08913 9344667 MGI:87934 RGD:2056 LRG_545|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_545.xml 104210 objectId:25 HGNC:281 "ENST00000280155.4|NM_000681.4" HGNC:281 @@ -572,26 +572,26 @@ HGNC:285 ADRB1 adrenoceptor beta 1 protein-coding gene gene with protein product HGNC:286 ADRB2 adrenoceptor beta 2 protein-coding gene gene with protein product Approved 5q32 05q32 "ADRBR|BAR|B2AR" ADRB2R "adrenergic, beta-2-, receptor, surface|adrenoceptor beta 2, surface" Adrenoceptors 169 1990-09-10 2015-11-26 2023-01-20 154 ENSG00000169252 OTTHUMG00000129933 uc003lpr.3 AF022953 NM_000024 CCDS4292 P07550 MGI:87938 RGD:2060 109690 objectId:29 HGNC:286 "ENST00000305988.6|NM_000024.6" HGNC:288 ADRB3 adrenoceptor beta 3 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 adrenergic, beta-3-, receptor Adrenoceptors 169 1993-10-04 2012-05-09 2023-01-20 155 ENSG00000188778 OTTHUMG00000164028 uc003xkr.3 AY487247 NM_000025 CCDS6099 P13945 "7898940|15123695" MGI:87939 RGD:2061 109691 objectId:30 HGNC:288 "ENST00000345060.5|NM_000025.3" HGNC:15759 ADRM1 ADRM1 26S proteasome ubiquitin receptor protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "GP110|Rpn13|ARM1|PSMD16" adhesion regulating molecule 1 Proteasome 690 2001-09-17 2021-02-25 2023-01-20 11047 ENSG00000130706 OTTHUMG00000032904 uc002ycn.5 D64154 NM_001281437 "CCDS13496|CCDS74747" Q16186 "8033103|18497817" MGI:1929289 RGD:69248 610650 HGNC:15759 "ENST00000253003.7|NM_007002.4" -HGNC:291 ADSL adenylosuccinate lyase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Purinosome 1569 1986-01-01 2023-01-20 158 ENSG00000239900 OTTHUMG00000166425 uc003ayp.5 X65867 NM_000026 "CCDS93169|CCDS93171|CCDS93170|CCDS46714|CCDS87029|CCDS14001" P30566 8404037 MGI:103202 RGD:1307617 Adenylosuccinate Lyase Mutations Database Home Page|http://www.icp.ucl.ac.be/adsldb/ 608222 119507 4.3.2.2 HGNC:291 "ENST00000623063.3|NM_000026.4" HGNC:291 -HGNC:20093 ADSS1 adenylosuccinate synthase 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 FLJ38602 ADSSL1 adenylosuccinate synthase like 1 2002-12-17 2019-07-11 2019-07-11 2023-01-20 122622 ENSG00000185100 OTTHUMG00000170818 uc001ypd.5 AK095921 NM_001320424 "CCDS9991|CCDS9990" Q8N142 "15786719|26506222" MGI:87947 RGD:1590342 612498 469928 6.3.4.4 HGNC:20093 "ENST00000330877.7|NM_152328.5" +HGNC:291 ADSL adenylosuccinate lyase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Purinosome 1569 1986-01-01 2023-01-20 158 ENSG00000239900 OTTHUMG00000166425 uc003ayp.5 X65867 NM_000026 "CCDS46714|CCDS93170|CCDS93169|CCDS87029|CCDS14001|CCDS93171" P30566 8404037 MGI:103202 RGD:1307617 Adenylosuccinate Lyase Mutations Database Home Page|http://www.icp.ucl.ac.be/adsldb/ 608222 119507 4.3.2.2 HGNC:291 "ENST00000623063.3|NM_000026.4" HGNC:291 +HGNC:20093 ADSS1 adenylosuccinate synthase 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 FLJ38602 ADSSL1 adenylosuccinate synthase like 1 2002-12-17 2019-07-11 2019-07-11 2023-01-20 122622 ENSG00000185100 OTTHUMG00000170818 uc001ypd.5 AK095921 NM_001320424 "CCDS9990|CCDS9991" Q8N142 "15786719|26506222" MGI:87947 RGD:1590342 612498 469928 6.3.4.4 HGNC:20093 "ENST00000330877.7|NM_152328.5" HGNC:292 ADSS2 adenylosuccinate synthase 2 protein-coding gene gene with protein product Approved 1q44 01q44 ADSS adenylosuccinate synthase 1989-05-19 2019-07-11 2019-07-11 2023-01-20 159 ENSG00000035687 OTTHUMG00000040102 uc001iaj.4 BC012356 NM_001126 CCDS1624 P30520 "2004783|1592113" MGI:87948 RGD:1310508 103060 6.3.4.4 HGNC:292 "ENST00000366535.4|NM_001126.5" -HGNC:21214 ADTRP androgen dependent TFPI regulating protein protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "dJ413H6.1|AIG1L" androgen-induced 1-like C6orf105 "chromosome 6 open reading frame 105|androgen-dependent TFPI-regulating protein" 2003-11-25 2012-01-27 2016-02-24 2023-01-20 84830 ENSG00000111863 OTTHUMG00000014260 uc003nab.4 AJ420520 NM_032744 "CCDS4521|CCDS47374" Q96IZ2 "21868574|34797389" MGI:1924596 RGD:1305679 614348 HGNC:21214 "ENST00000414691.8|NM_032744.4" +HGNC:21214 ADTRP androgen dependent TFPI regulating protein protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "dJ413H6.1|AIG1L" androgen-induced 1-like C6orf105 "chromosome 6 open reading frame 105|androgen-dependent TFPI-regulating protein" 2003-11-25 2012-01-27 2016-02-24 2023-01-20 84830 ENSG00000111863 OTTHUMG00000014260 uc003nab.4 AJ420520 NM_032744 "CCDS47374|CCDS4521" Q96IZ2 "21868574|34797389" MGI:1924596 RGD:1305679 614348 HGNC:21214 "ENST00000414691.8|NM_032744.4" HGNC:303 AEBP1 AE binding protein 1 protein-coding gene gene with protein product Approved 7p13 07p13 ACLP "aortic carboxypeptidase-like protein|adipocyte enhancer binding protein 1" AE-binding protein 1 "M14 carboxypeptidases|MicroRNA protein coding host genes" "1321|1691" 1998-03-06 2001-11-28 2023-01-20 165 ENSG00000106624 OTTHUMG00000023362 uc003tkb.5 D86479 NM_001129 CCDS5476 Q8IUX7 8920928 MGI:1197012 RGD:1306922 602981 M14.951 objectId:1586 HGNC:303 "ENST00000223357.8|NM_001129.5" HGNC:303 HGNC:24051 AEBP2 AE binding protein 2 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 MGC17922 Zinc fingers C2H2-type 28 2004-03-18 2023-01-20 121536 ENSG00000139154 OTTHUMG00000168906 uc001ref.2 NM_153207 "CCDS44841|CCDS44842|CCDS58215" Q6ZN18 10329662 MGI:1338038 RGD:1307233 617934 HGNC:24051 "ENST00000266508.14|NM_153207.5" HGNC:25722 AEN apoptosis enhancing nuclease protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "FLJ12484|FLJ12562" ISG20L1 interferon stimulated exonuclease gene 20kDa-like 1 "Exonucleases|MicroRNA protein coding host genes" "544|1691" 2005-06-30 2008-07-15 2008-07-15 2023-01-20 64782 ENSG00000181026 OTTHUMG00000148681 uc002bmt.3 BC020988 NM_022767 CCDS10344 Q8WTP8 "18264133|16171785" MGI:1915298 RGD:1305051 610177 HGNC:25722 "ENST00000332810.4|NM_022767.4" -HGNC:24017 AFAP1 actin filament associated protein 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "AFAP-110|AFAP" Pleckstrin homology domain containing 682 2007-02-07 2007-02-07 2023-01-20 60312 ENSG00000196526 OTTHUMG00000125515 uc003gkg.2 AB209676 NM_021638 "CCDS47010|CCDS3397" Q8N556 "14755689|11641786|11607843" MGI:1917542 RGD:619959 608252 HGNC:24017 "ENST00000420658.6|NM_001134647.2" +HGNC:24017 AFAP1 actin filament associated protein 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "AFAP-110|AFAP" Pleckstrin homology domain containing 682 2007-02-07 2007-02-07 2023-01-20 60312 ENSG00000196526 OTTHUMG00000125515 uc003gkg.2 AB209676 NM_021638 "CCDS3397|CCDS47010" Q8N556 "14755689|11641786|11607843" MGI:1917542 RGD:619959 608252 HGNC:24017 "ENST00000420658.6|NM_001134647.2" HGNC:28141 AFAP1-AS1 AFAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 MGC10981 "AFAP1AS|AFAP1-AS" "AFAP1 antisense RNA (non-protein coding)|AFAP1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-07-08 2010-11-25 2012-08-15 2016-11-24 84740 ENSG00000272620 OTTHUMG00000186238 uc003gkd.5 BC004397 NR_026892 "23333711|26892468" 619779 AFAP1AS HGNC:28141 HGNC:26714 AFAP1L1 actin filament associated protein 1 like 1 protein-coding gene gene with protein product Approved 5q32 05q32 FLJ36748 actin filament associated protein 1-like 1 Pleckstrin homology domain containing 682 2007-02-07 2015-11-26 2023-01-20 134265 ENSG00000157510 OTTHUMG00000163441 uc003lqh.4 AK094067 NM_152406 "CCDS54932|CCDS34274" Q8TED9 21333378 MGI:2147199 RGD:1311580 614410 HGNC:26714 "ENST00000296721.9|NM_152406.4" -HGNC:25901 AFAP1L2 actin filament associated protein 1 like 2 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ14564|Em:AC005383.4|XB130" KIAA1914 "KIAA1914|actin filament associated protein 1-like 2" Pleckstrin homology domain containing 682 2004-02-18 2007-02-07 2015-11-26 2023-01-20 84632 ENSG00000169129 OTTHUMG00000019086 uc001lbn.5 BC024314 NM_032550 "CCDS31286|CCDS91356|CCDS31287" Q8N4X5 "11572484|17412687" MGI:2147658 RGD:1310668 612420 HGNC:25901 "ENST00000304129.9|NM_001001936.3" -HGNC:7137 AFDN afadin, adherens junction formation factor protein-coding gene gene with protein product Approved 6q27 06q27 "AF-6|AF6" MLLT4 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4 PDZ domain containing 1220 1994-09-06 2016-06-28 2016-06-28 2023-03-15 4301 ENSG00000130396 OTTHUMG00000016031 uc063sxr.1 AB011399 NM_005936 "CCDS94034|CCDS94033|CCDS75553|CCDS78199|CCDS47517|CCDS94035" P55196 8242616 MGI:1314653 RGD:708561 AFDN 159559 HGNC:7137 "ENST00000683244.1|NM_001386888.1" +HGNC:25901 AFAP1L2 actin filament associated protein 1 like 2 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ14564|Em:AC005383.4|XB130" KIAA1914 "KIAA1914|actin filament associated protein 1-like 2" Pleckstrin homology domain containing 682 2004-02-18 2007-02-07 2015-11-26 2023-01-20 84632 ENSG00000169129 OTTHUMG00000019086 uc001lbn.5 BC024314 NM_032550 "CCDS31287|CCDS91356|CCDS31286" Q8N4X5 "11572484|17412687" MGI:2147658 RGD:1310668 612420 HGNC:25901 "ENST00000304129.9|NM_001001936.3" +HGNC:7137 AFDN afadin, adherens junction formation factor protein-coding gene gene with protein product Approved 6q27 06q27 "AF-6|AF6" MLLT4 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4 PDZ domain containing 1220 1994-09-06 2016-06-28 2016-06-28 2023-03-15 4301 ENSG00000130396 OTTHUMG00000016031 uc063sxr.1 AB011399 NM_005936 "CCDS78199|CCDS75553|CCDS94034|CCDS94033|CCDS47517|CCDS94035" P55196 8242616 MGI:1314653 RGD:708561 AFDN 159559 HGNC:7137 "ENST00000683244.1|NM_001386888.1" HGNC:21236 AFDN-DT AFDN divergent transcript non-coding RNA RNA, long non-coding Approved 6q27 06q27 "HGC6.4|dJ431P23.3|XBP1SBM" XBP1s binding micropeptide "C6orf124|MLLT4-AS1|AFDN-AS1" "chromosome 6 open reading frame 124|MLLT4 antisense RNA 1 (non-protein coding)|MLLT4 antisense RNA 1 (head to head)|AFDN antisense RNA 1 (head to head)" Divergent transcripts 1990 2003-05-29 2017-09-21 2017-09-21 2023-03-15 653483 ENSG00000198221 OTTHUMG00000016029 uc003qwa.3 NR_027906 Q9Y6Z5 "10382971|31981317|35197570" HGNC:21236 HGNC:7135 AFF1 ALF transcription elongation factor 1 protein-coding gene gene with protein product Approved 4q21.3-q22.1 04q21.3-q22.1 "AF-4|AF4|FEL" ALL1-fused gene from chromosome 4 "PBM1|MLLT2" "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2|pre-B-cell monocytic leukemia partner 1|AF4/FMR2 family, member 1|AF4/FMR2 family member 1" "AF4/FMR2 family|Super elongation complex" "1145|1280" 2005-06-27 2022-06-14 2023-01-20 4299 ENSG00000172493 OTTHUMG00000130603 uc003hqj.5 L22179 NM_005935 "CCDS54775|CCDS93557|CCDS3616" P51825 "7689231|1423625|8353274" MGI:1100819 RGD:1307940 AFF1 159557 171634 HGNC:7135 "ENST00000395146.9|NM_001166693.3" HGNC:53447 AFF1-AS1 AFF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.3 04q21.3 Antisense RNAs 1987 2017-04-19 2017-04-19 100506746 NR_038841 HGNC:53447 -HGNC:3776 AFF2 ALF transcription elongation factor 2 protein-coding gene gene with protein product Approved Xq28 Xq28 FRAXE FMR2 "fragile X mental retardation 2|AF4/FMR2 family, member 2|AF4/FMR2 family member 2" "AF4/FMR2 family|Super elongation complex" "1145|1280" 2005-06-27 2022-06-14 2023-01-20 2334 ENSG00000155966 OTTHUMG00000022613 uc004fcp.3 U48436 NM_002025 "CCDS55521|CCDS78510|CCDS14684|CCDS76040" P51816 22065534 MGI:1202294 RGD:1565592 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AFF2 300806 119509 HGNC:3776 "ENST00000370460.7|NM_002025.4" HGNC:3776 +HGNC:3776 AFF2 ALF transcription elongation factor 2 protein-coding gene gene with protein product Approved Xq28 Xq28 FRAXE FMR2 "fragile X mental retardation 2|AF4/FMR2 family, member 2|AF4/FMR2 family member 2" "AF4/FMR2 family|Super elongation complex" "1145|1280" 2005-06-27 2022-06-14 2023-01-20 2334 ENSG00000155966 OTTHUMG00000022613 uc004fcp.3 U48436 NM_002025 "CCDS78510|CCDS14684|CCDS55521|CCDS76040" P51816 22065534 MGI:1202294 RGD:1565592 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AFF2 300806 119509 HGNC:3776 "ENST00000370460.7|NM_002025.4" HGNC:3776 HGNC:41334 AFF2-IT1 AFF2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 AFF2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874269 ENSG00000223516 OTTHUMG00000022611 uc065bmd.1 AFF2-IT1 -HGNC:6473 AFF3 ALF transcription elongation factor 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 MLLT2-like LAF4 "lymphoid nuclear protein related to AF4|AF4/FMR2 family, member 3|AF4/FMR2 family member 3" "AF4/FMR2 family|Super elongation complex" "1145|1280" 1998-03-27 2005-06-27 2022-06-14 2023-01-20 3899 ENSG00000144218 OTTHUMG00000153011 uc002tah.2 U34360 NM_002285 "CCDS42723|CCDS33258" P51826 "8662235|8555498" MGI:106927 RGD:1308527 AFF3 601464 HGNC:6473 "ENST00000672756.2|NM_001386135.1" +HGNC:6473 AFF3 ALF transcription elongation factor 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 MLLT2-like LAF4 "lymphoid nuclear protein related to AF4|AF4/FMR2 family, member 3|AF4/FMR2 family member 3" "AF4/FMR2 family|Super elongation complex" "1145|1280" 1998-03-27 2005-06-27 2022-06-14 2023-01-20 3899 ENSG00000144218 OTTHUMG00000153011 uc002tah.2 U34360 NM_002285 "CCDS33258|CCDS42723" P51826 "8662235|8555498" MGI:106927 RGD:1308527 AFF3 601464 HGNC:6473 "ENST00000672756.2|NM_001386135.1" HGNC:17869 AFF4 ALF transcription elongation factor 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "AF5Q31|MCEF" ALL1 fused gene from 5q31 "AF4/FMR2 family, member 4|AF4/FMR2 family member 4" "AF4/FMR2 family|Super elongation complex" "1145|1280" 2005-06-27 2022-06-14 2023-01-20 27125 ENSG00000072364 OTTHUMG00000059838 uc003kyd.4 AF197927 NM_014423 CCDS4164 Q9UHB7 10588740 MGI:2136171 RGD:1311694 AFF4 604417 448667 HGNC:17869 "ENST00000265343.10|NM_014423.4" HGNC:17869 -HGNC:55235 AFF4-DT AFF4 divergent transcript non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 Divergent transcripts 1990 2020-09-16 2020-09-16 118597833 ENSG00000272023 +HGNC:55235 AFF4-DT AFF4 divergent transcript non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 Divergent transcripts 1990 2020-09-16 2023-06-12 124901065 ENSG00000272023 NR_186175 HGNC:56526 AFF4P1 AFF4 pseudogene 1 pseudogene pseudogene Approved 3q22.1 03q22.1 2022-10-28 2022-10-28 127460875 ENSG00000249820 PGOHUM00000299597 HGNC:16411 AFG1L AFG1 like ATPase protein-coding gene gene with protein product Approved 6q21 06q21 AFG1 ATPase family gene 1 homolog (S. cerevisiae) LACE1 lactation elevated 1 2002-06-07 2017-03-09 2017-03-09 2023-01-20 246269 ENSG00000135537 OTTHUMG00000015324 uc003psj.4 AF520418 NM_145315 CCDS5067 Q8WV93 12079282 MGI:2148801 RGD:1561501 617469 HGNC:16411 "ENST00000368977.9|NM_145315.5" HGNC:18119 AFG2A AFG2 AAA ATPase homolog A protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "SPAF|AFG2" ATPase family gene 2 homolog (S. cerevisiae) SPATA5 spermatogenesis associated 5 AAA ATPases 413 2002-02-04 2023-03-20 2023-03-20 2023-03-20 166378 ENSG00000145375 OTTHUMG00000133074 uc003iez.5 AF361489 NM_145207 CCDS3730 Q8NB90 16465403 MGI:1927170 RGD:1310478 613940 460755 HGNC:18119 "ENST00000274008.5|NM_145207.3" HGNC:18119 @@ -602,15 +602,15 @@ HGNC:24169 AFG3L2P1 AFG3L2 pseudogene 1 pseudogene pseudogene Approved 8p11.1 08 HGNC:316 AFM afamin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "ALB2|ALBA" "alpha-albumin|vitamin E binding protein" Albuminoid family 1620 1994-12-09 2023-05-09 173 ENSG00000079557 OTTHUMG00000130004 uc003hhb.4 L32140 NM_001133 CCDS3557 P43652 "7517938|17654119" MGI:2429409 RGD:628614 104145 HGNC:316 "ENST00000226355.5|NM_001133.2" HGNC:20910 AFMID arylformamidase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "DKFZp686F03259|KF" kynurenine formamidase 2004-01-30 2023-01-20 125061 ENSG00000183077 OTTHUMG00000153957 uc002jva.3 BX648442 NM_001145526 "CCDS45801|CCDS32750" Q63HM1 29449409 MGI:2448704 RGD:1591143 S09.977 3.5.1.9 HGNC:20910 "ENST00000409257.10|NM_001010982.5" HGNC:317 AFP alpha fetoprotein protein-coding gene gene with protein product Approved 4q13.3 04q13.3 FETA alpha-fetoprotein HPAFP Albuminoid family 1620 1996-04-01 2016-01-13 2023-01-20 174 ENSG00000081051 OTTHUMG00000130011 uc003hgz.3 V01514 NM_001134 CCDS3556 P02771 2580830 MGI:87951 RGD:2065 104150 173230 HGNC:317 "ENST00000395792.7|NM_001134.3" HGNC:317 -HGNC:25951 AFTPH aftiphilin protein-coding gene gene with protein product Approved 2p14 02p14 "MGC33965|FLJ20080|FLJ23793|Nbla10388" MicroRNA protein coding host genes 1691 2006-06-19 2023-01-20 54812 ENSG00000119844 OTTHUMG00000129539 uc002sdb.5 AB073356 NM_017657 "CCDS92767|CCDS92768|CCDS1878|CCDS92771|CCDS46303|CCDS92769|CCDS92770" Q6ULP2 "14665628|15758025|15811338" MGI:1923012 RGD:1311920 619628 HGNC:25951 "ENST00000409933.6|NM_203437.4" +HGNC:25951 AFTPH aftiphilin protein-coding gene gene with protein product Approved 2p14 02p14 "MGC33965|FLJ20080|FLJ23793|Nbla10388" MicroRNA protein coding host genes 1691 2006-06-19 2023-01-20 54812 ENSG00000119844 OTTHUMG00000129539 uc002sdb.5 AB073356 NM_017657 "CCDS92771|CCDS92770|CCDS92767|CCDS92768|CCDS46303|CCDS92769|CCDS1878" Q6ULP2 "14665628|15758025|15811338" MGI:1923012 RGD:1311920 619628 HGNC:25951 "ENST00000409933.6|NM_203437.4" HGNC:52788 AFTPH-DT AFTPH divergent transcript non-coding RNA RNA, long non-coding Approved 2p14 02p14 Divergent transcripts 1990 2020-12-21 2020-12-21 101927402 ENSG00000260101 NR_136167 HGNC:318 AGA aspartylglucosaminidase protein-coding gene gene with protein product Approved 4q34.3 04q34.3 ASRG "glycosylasparaginase|N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase" 1991-05-09 2023-01-20 175 ENSG00000038002 OTTHUMG00000160723 uc003iuu.3 X55330 NM_000027 CCDS3829 P20933 "1505217|28063748" MGI:104873 RGD:1309646 613228 119513 T02.001 3.5.1.26 HGNC:318 "ENST00000264595.7|NM_000027.4" HGNC:318 HGNC:27730 AGA-DT AGA divergent transcript non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 Divergent transcripts 1990 2021-04-07 2021-04-07 285500 ENSG00000250131 NR_183777 -HGNC:16922 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 protein-coding gene gene with protein product Approved 2q37.2 02q37.2 "KIAA1099|GGAP1" CENTG2 centaurin, gamma 2 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-10-29 2008-09-22 2008-09-22 2023-01-20 116987 ENSG00000157985 OTTHUMG00000133293 uc002vvt.4 AF413078 NM_014914 "CCDS58756|CCDS2514|CCDS33408" Q9UPQ3 12388557 MGI:2653690 RGD:1309244 608651 HGNC:16922 "ENST00000304032.13|NM_001037131.3" +HGNC:16922 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 protein-coding gene gene with protein product Approved 2q37.2 02q37.2 "KIAA1099|GGAP1" CENTG2 centaurin, gamma 2 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-10-29 2008-09-22 2008-09-22 2023-01-20 116987 ENSG00000157985 OTTHUMG00000133293 uc002vvt.4 AF413078 NM_014914 "CCDS33408|CCDS58756|CCDS2514" Q9UPQ3 12388557 MGI:2653690 RGD:1309244 608651 HGNC:16922 "ENST00000304032.13|NM_001037131.3" HGNC:41427 AGAP1-IT1 AGAP1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q37.2 02q37.2 AGAP1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100506749 ENSG00000235529 OTTHUMG00000153124 uc061txt.1 NR_131900 AGAP1-IT1 HGNC:41427 -HGNC:16921 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 CENTG1 centaurin, gamma 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-10-29 2008-09-22 2008-09-22 2023-01-20 116986 ENSG00000135439 OTTHUMG00000170285 uc001spr.4 AF413077 NM_014770 "CCDS8951|CCDS44932" Q99490 16079295 MGI:3580016 RGD:628844 605476 HGNC:16921 "ENST00000547588.6|NM_001122772.3" +HGNC:16921 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 CENTG1 centaurin, gamma 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-10-29 2008-09-22 2008-09-22 2023-01-20 116986 ENSG00000135439 OTTHUMG00000170285 uc001spr.4 AF413077 NM_014770 "CCDS44932|CCDS8951" Q99490 16079295 MGI:3580016 RGD:628844 605476 HGNC:16921 "ENST00000547588.6|NM_001122772.3" HGNC:48633 AGAP2-AS1 AGAP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 "LOC100130776|PUNISHER" Antisense RNAs 1987 2013-05-30 2019-06-19 100130776 ENSG00000255737 OTTHUMG00000170286 "BC039697|BC069024" NR_027032 "25392693|27195672|31186379" AGAP2-AS1 HGNC:48633 -HGNC:16923 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 CENTG3 centaurin, gamma 3 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-10-29 2008-09-22 2008-09-22 2023-01-20 116988 ENSG00000133612 OTTHUMG00000158724 uc003wjg.3 AF413079 NM_031946 "CCDS78287|CCDS55185|CCDS43681|CCDS64802|CCDS83243" Q96P47 23904596 MGI:2183446 RGD:1310751 616813 HGNC:16923 "ENST00000397238.7|NM_031946.7" +HGNC:16923 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 CENTG3 centaurin, gamma 3 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-10-29 2008-09-22 2008-09-22 2023-01-20 116988 ENSG00000133612 OTTHUMG00000158724 uc003wjg.3 AF413079 NM_031946 "CCDS55185|CCDS64802|CCDS78287|CCDS43681|CCDS83243" Q96P47 23904596 MGI:2183446 RGD:1310751 616813 HGNC:16923 "ENST00000397238.7|NM_031946.7" HGNC:23459 AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "Em:AC012044.1|MRIP2" "CTGLF1|AGAP8|CTGLF5" "centaurin, gamma-like family, member 1|ArfGAP with GTPase domain, ankyrin repeat and PH domain 8|centaurin, gamma-like family, member 5" "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2004-05-27 2008-09-22 2008-09-22 2023-01-20 119016 ENSG00000188234 OTTHUMG00000018088 uc057szm.1 AF411132 NM_133446 "CCDS7215|CCDS91238" Q96P64 12477932 HGNC:23459 "ENST00000616763.6|NM_001276343.3" HGNC:23467 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 Em:AC073389.1 CTGLF2 centaurin, gamma-like family, member 2 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2004-05-27 2008-09-22 2008-09-22 2023-01-20 729092 ENSG00000172650 OTTHUMG00000018473 uc009xri.4 NM_001144000 CCDS44439 A6NIR3 MGI:2653690 HGNC:23467 "ENST00000374094.9|NM_001144000.4" HGNC:23466 AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 bA324H6.1 CTGLF3 centaurin, gamma-like family, member 3 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2004-05-27 2008-09-22 2008-09-22 2023-01-20 414189 ENSG00000204149 OTTHUMG00000018220 uc001jix.5 NM_001077665 CCDS44397 Q5VW22 HGNC:23466 "ENST00000412531.7|NM_001077665.3" @@ -628,11 +628,11 @@ HGNC:27981 AGBL3 AGBL carboxypeptidase 3 protein-coding gene gene with protein p HGNC:25892 AGBL4 AGBL carboxypeptidase 4 protein-coding gene gene with protein product Approved 1p33 01p33 "FLJ14442|CCP6" cytosolic carboxypeptidase 6 ATP/GTP binding protein like 4 M14 carboxypeptidases 1321 2005-05-26 2021-02-04 2023-01-20 84871 ENSG00000186094 OTTHUMG00000007793 uc001cru.3 AK027348 NM_032785 CCDS44137 Q5VU57 21074048 MGI:1918244 RGD:6493177 616476 M14.027 HGNC:25892 "ENST00000371839.6|NM_032785.4" HGNC:41123 AGBL4-AS1 AGBL4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 Antisense RNAs 1987 2019-07-19 2019-07-19 101929721 ENSG00000230114 OTTHUMG00000008156 NR_125988 HGNC:41123 HGNC:41482 AGBL4-IT1 AGBL4 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 AGBL4 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874313 ENSG00000225623 OTTHUMG00000008155 uc031tzy.1 NR_046839 AGBL4-IT1 HGNC:41482 -HGNC:26147 AGBL5 AGBL carboxypeptidase 5 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ21839|CCP5" cytosolic carboxypeptidase 5 ATP/GTP binding protein like 5 M14 carboxypeptidases 1321 2007-03-27 2021-02-04 2023-01-20 60509 ENSG00000084693 OTTHUMG00000128406 uc002rie.4 BC007415 NM_021831 "CCDS1732|CCDS42665" Q8NDL9 24022482 MGI:2441745 RGD:1598311 615900 461232 HGNC:26147 "ENST00000360131.5|NM_021831.6" HGNC:26147 +HGNC:26147 AGBL5 AGBL carboxypeptidase 5 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ21839|CCP5" cytosolic carboxypeptidase 5 ATP/GTP binding protein like 5 M14 carboxypeptidases 1321 2007-03-27 2021-02-04 2023-01-20 60509 ENSG00000084693 OTTHUMG00000128406 uc002rie.4 BC007415 NM_021831 "CCDS42665|CCDS1732" Q8NDL9 24022482 MGI:2441745 RGD:1598311 615900 461232 HGNC:26147 "ENST00000360131.5|NM_021831.6" HGNC:26147 HGNC:41133 AGBL5-AS1 AGBL5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 AGBL5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-08 2012-08-15 2021-07-22 100874031 ENSG00000231636 OTTHUMG00000151996 uc061hjm.1 NR_046730 AGBL5-AS1 HGNC:41133 HGNC:41484 AGBL5-IT1 AGBL5 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 AGBL5 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 106481744 ENSG00000229122 OTTHUMG00000151991 uc061hjv.1 AGBL5-IT1 -HGNC:320 AGER advanced glycosylation end-product specific receptor protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "RAGE|SCARJ1|sRAGE" receptor for advanced glycation end-products "C2-set domain containing|Scavenger receptors" "592|1253" 1994-10-17 2016-07-18 2023-01-20 177 ENSG00000204305 OTTHUMG00000031120 uc003oal.3 M91211 NM_001136 "CCDS75429|CCDS56417|CCDS56418|CCDS4746|CCDS4747" Q15109 7713518 MGI:893592 RGD:69258 600214 objectId:2843 HGNC:320 "ENST00000375076.9|NM_001136.5" -HGNC:5175 AGFG1 ArfGAP with FG repeats 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "RIP|RAB" HRB HIV-1 Rev binding protein "ArfGAPs|MicroRNA protein coding host genes" "395|1691" 1996-11-15 2008-09-22 2008-09-22 2023-01-20 3267 ENSG00000173744 OTTHUMG00000133186 uc002vpc.3 NM_004504 "CCDS46534|CCDS46535|CCDS2467|CCDS46533" P52594 7637788 MGI:1333754 RGD:1560041 600862 HGNC:5175 "ENST00000310078.13|NM_004504.5" +HGNC:320 AGER advanced glycosylation end-product specific receptor protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "RAGE|SCARJ1|sRAGE" receptor for advanced glycation end-products "C2-set domain containing|Scavenger receptors" "592|1253" 1994-10-17 2016-07-18 2023-01-20 177 ENSG00000204305 OTTHUMG00000031120 uc003oal.3 M91211 NM_001136 "CCDS56417|CCDS4746|CCDS4747|CCDS75429|CCDS56418" Q15109 7713518 MGI:893592 RGD:69258 600214 objectId:2843 HGNC:320 "ENST00000375076.9|NM_001136.5" +HGNC:5175 AGFG1 ArfGAP with FG repeats 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "RIP|RAB" HRB HIV-1 Rev binding protein "ArfGAPs|MicroRNA protein coding host genes" "395|1691" 1996-11-15 2008-09-22 2008-09-22 2023-01-20 3267 ENSG00000173744 OTTHUMG00000133186 uc002vpc.3 NM_004504 "CCDS46534|CCDS46533|CCDS2467|CCDS46535" P52594 7637788 MGI:1333754 RGD:1560041 600862 HGNC:5175 "ENST00000310078.13|NM_004504.5" HGNC:5177 AGFG2 ArfGAP with FG repeats 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 RABR HRBL HIV-1 Rev binding protein-like ArfGAPs 395 1998-06-03 2008-09-22 2008-09-22 2023-01-20 3268 ENSG00000106351 OTTHUMG00000156029 uc003uvf.4 AF015042 NM_006076 CCDS5697 O95081 9799793 MGI:2443267 RGD:1306590 604019 HGNC:5177 "ENST00000300176.9|NM_006076.5" HGNC:24684 AGGF1 angiogenic factor with G-patch and FHA domains 1 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "VG5Q|HSU84971|FLJ10283|GPATC7|GPATCH7" G-patch domain containing 579 2004-12-14 2015-11-13 2023-01-20 55109 ENSG00000164252 OTTHUMG00000102132 uc003ket.4 AK001145 NM_018046 CCDS4035 Q8N302 "18564129|17103452" MGI:1913799 RGD:1310888 608464 119516 HGNC:24684 "ENST00000312916.12|NM_018046.5" HGNC:38051 AGGF1P1 angiogenic factor with G-patch and FHA domains 1 pseudogene 1 pseudogene pseudogene Approved 4q35.2 04q35.2 2010-03-31 2015-11-13 2015-11-13 100132380 ENSG00000214273 OTTHUMG00000160174 NG_022094 PGOHUM00000300469 HGNC:38051 @@ -649,12 +649,12 @@ HGNC:21869 AGK acylglycerol kinase protein-coding gene gene with protein product HGNC:55356 AGK-DT AGK divergent transcript non-coding RNA RNA, long non-coding Approved 7q34 07q34 Divergent transcripts 1990 2020-11-05 2020-11-05 105375538 ENSG00000261570 NR_183402 HGNC:37661 AGKP1 AGK pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 AGKY1 acylglycerol kinase Y-linked pseudogene 1 acylglycerol kinase pseudogene 1 2009-12-16 2020-07-03 2020-07-03 359793 ENSG00000226555 OTTHUMG00000036620 NG_002810 PGOHUM00000233964 HGNC:37661 HGNC:55132 AGKP2 AGK pseudogene 2 pseudogene pseudogene Approved Xq26.2 Xq26.2 2020-07-03 2020-11-11 392543 ENSG00000228819 NG_022637 PGOHUM00000304855 -HGNC:321 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase protein-coding gene gene with protein product Approved 1p21.2 01p21.2 GDE "glycogen debranching enzyme|glycogen storage disease type III" amylo-1, 6-glucosidase, 4-alpha-glucanotransferase Glycoside hydrolases 1650 1992-07-29 2010-04-27 2023-03-15 178 ENSG00000162688 OTTHUMG00000010803 uc001dsi.2 BC078663 NM_000028 "CCDS759|CCDS760" P35573 1505983 MGI:1924809 RGD:1306376 610860 119523 "2.4.1.25|3.2.1.33" HGNC:321 "ENST00000361915.8|NM_000642.3" HGNC:321 +HGNC:321 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase protein-coding gene gene with protein product Approved 1p21.2 01p21.2 GDE "glycogen debranching enzyme|glycogen storage disease type III" amylo-1, 6-glucosidase, 4-alpha-glucanotransferase Glycoside hydrolases 1650 1992-07-29 2010-04-27 2023-03-15 178 ENSG00000162688 OTTHUMG00000010803 uc001dsi.2 BC078663 NM_000028 "CCDS760|CCDS759" P35573 1505983 MGI:1924809 RGD:1306376 610860 119523 "2.4.1.25|3.2.1.33" HGNC:321 "ENST00000361915.8|NM_000642.3" HGNC:321 HGNC:18407 AGMAT agmatinase protein-coding gene gene with protein product Approved 1p36.21 01p36.21 FLJ23384 agmatine ureohydrolase (agmatinase) 2002-03-22 2015-11-03 2023-01-20 79814 ENSG00000116771 OTTHUMG00000002357 uc001awv.3 AY057097 NM_024758 CCDS160 Q9BSE5 "11804860|14648699|11914032" MGI:1923236 RGD:1308424 617887 3.5.3.11 HGNC:18407 "ENST00000375826.4|NM_024758.5" HGNC:33784 AGMO alkylglycerol monooxygenase protein-coding gene gene with protein product Approved 7p21.2 07p21.2 FLJ16237 TMEM195 transmembrane protein 195 Fatty acid hydroxylase domain containing 552 2007-11-20 2011-01-31 2011-01-31 2023-01-20 392636 ENSG00000187546 OTTHUMG00000152387 uc003stb.1 NM_001004320 CCDS34604 Q6ZNB7 "20643956|31555905" MGI:2442495 RGD:1312038 613738 1.14.16.5 HGNC:33784 "ENST00000342526.8|NM_001004320.2" HGNC:33784 -HGNC:3262 AGO1 argonaute RISC component 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 hAGO1 argonaute 1 EIF2C1 "eukaryotic translation initiation factor 2C, 1|argonaute RISC catalytic component 1" Argonaute RISC component family 2037 1999-12-07 2013-02-15 2019-02-01 2023-01-20 26523 ENSG00000092847 OTTHUMG00000007381 uc001bzl.5 AF093097 NM_001317122 "CCDS90915|CCDS398|CCDS81300" Q9UL18 "10534406|12906857|16936728" MGI:2446630 RGD:1304619 606228 469930 HGNC:3262 "ENST00000373204.6|NM_012199.5" +HGNC:3262 AGO1 argonaute RISC component 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 hAGO1 argonaute 1 EIF2C1 "eukaryotic translation initiation factor 2C, 1|argonaute RISC catalytic component 1" Argonaute RISC component family 2037 1999-12-07 2013-02-15 2019-02-01 2023-01-20 26523 ENSG00000092847 OTTHUMG00000007381 uc001bzl.5 AF093097 NM_001317122 "CCDS90915|CCDS81300|CCDS398" Q9UL18 "10534406|12906857|16936728" MGI:2446630 RGD:1304619 606228 469930 HGNC:3262 "ENST00000373204.6|NM_012199.5" HGNC:3263 AGO2 argonaute RISC catalytic component 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "hAGO2|Q10|LINC00980" argonaute 2 "EIF2C2|CASC7" "eukaryotic translation initiation factor 2C, 2|cancer susceptibility candidate 7 (non-protein coding)" "Endoribonucleases|RISC loading complex|Argonaute RISC component family" "1687|1776|2037" 2000-01-14 2013-02-15 2018-11-09 2023-01-20 27161 ENSG00000123908 OTTHUMG00000164232 uc003yvm.5 AF121255 NM_012154 "CCDS6380|CCDS55279" Q9UKV8 "10534406|12906857" MGI:2446632 RGD:621255 606229 469932 3.1.26.n2 HGNC:3263 "ENST00000220592.10|NM_012154.5" HGNC:3263 -HGNC:18421 AGO3 argonaute RISC catalytic component 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "hAGO3|FLJ12765" argonaute 3 EIF2C3 eukaryotic translation initiation factor 2C, 3 Argonaute RISC component family 2037 2002-04-26 2013-02-15 2018-11-09 2023-01-20 192669 ENSG00000126070 OTTHUMG00000184172 uc001bzp.4 AB046787 NM_024852 "CCDS400|CCDS399" Q9H9G7 "12906857|29040713" MGI:2446634 RGD:1309163 607355 3.1.26.n2 HGNC:18421 "ENST00000373191.9|NM_024852.4" +HGNC:18421 AGO3 argonaute RISC catalytic component 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "hAGO3|FLJ12765" argonaute 3 EIF2C3 eukaryotic translation initiation factor 2C, 3 Argonaute RISC component family 2037 2002-04-26 2013-02-15 2018-11-09 2023-01-20 192669 ENSG00000126070 OTTHUMG00000184172 uc001bzp.4 AB046787 NM_024852 "CCDS399|CCDS400" Q9H9G7 "12906857|29040713" MGI:2446634 RGD:1309163 607355 3.1.26.n2 HGNC:18421 "ENST00000373191.9|NM_024852.4" HGNC:18424 AGO4 argonaute RISC component 4 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "hAGO4|KIAA1567|FLJ20033" argonaute 4 EIF2C4 "eukaryotic translation initiation factor 2C, 4|argonaute RISC catalytic component 4" Argonaute RISC component family 2037 2002-04-26 2013-02-15 2019-02-01 2023-01-20 192670 ENSG00000134698 OTTHUMG00000004243 uc001bzj.3 AB046787 NM_017629 CCDS397 Q9HCK5 "12906857|25114291" MGI:1924100 RGD:1304583 607356 HGNC:18424 "ENST00000373210.4|NM_017629.4" HGNC:324 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "LPAAT-alpha|LPLAT1" "lysophosphatidic acid acyltransferase, alpha|1-acyl-sn-glycerol-3-phosphate acyltransferase alpha|lysophospholipid acyltransferase l" 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) "1-acylglycerol-3-phosphate O-acyltransferases|MicroRNA protein coding host genes" "46|1691" 1999-12-07 2013-02-05 2023-01-20 10554 ENSG00000204310 OTTHUMG00000031210 uc003oah.4 U56417 NM_006411 CCDS4744 Q99943 "9461603|9291118" MGI:1932075 RGD:1303287 603099 2.3.1.51 HGNC:324 "ENST00000375107.8|NM_006411.4" HGNC:325 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "LPAAT-beta|LPLAT2" "lysophosphatidic acid acyltransferase-beta|1-acyl-sn-glycerol-3-phosphate acyltransferase beta|lysophospholipid acyltransferase 2" BSCL "Berardinelli-Seip congenital lipodystrophy|1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)" 1-acylglycerol-3-phosphate O-acyltransferases 46 1999-12-07 2013-02-05 2023-01-20 10555 ENSG00000169692 OTTHUMG00000020936 uc004cii.2 AF000237 NM_006412 "CCDS35181|CCDS7003" O15120 "9242711|9212163" MGI:1914762 RGD:1309229 603100 119525 2.3.1.51 HGNC:325 "ENST00000371696.7|NM_006412.4" HGNC:325 @@ -669,17 +669,17 @@ HGNC:24167 AGR3 anterior gradient 3, protein disulphide isomerase family member HGNC:329 AGRN agrin protein-coding gene gene with protein product Approved 1p36.33 01p36.33 AGRIN agrin proteoglycan Proteoglycans 570 1992-02-14 2007-02-16 2023-01-20 375790 ENSG00000188157 OTTHUMG00000040778 uc001ack.3 NM_198576 CCDS30551 O00468 "1851019|12270958" MGI:87961 RGD:2067 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=AGRN|LRG_198|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_198.xml" 103320 233062 ligandId:5319 HGNC:329 "ENST00000379370.7|NM_198576.4" HGNC:329 HGNC:330 AGRP agouti related neuropeptide protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "Agrt|ART|ASIP2" "agouti (mouse) related protein|agouti related protein homolog (mouse)" Neuropeptides 1902 1998-06-22 2014-07-15 2023-01-20 181 ENSG00000159723 OTTHUMG00000137509 uc002etg.1 U88063 NM_001138 CCDS10839 O00253 "9119224|9311920" MGI:892013 RGD:2068 602311 ligandId:1335 HGNC:330 "ENST00000290953.3|NM_001138.2" HGNC:333 AGT angiotensinogen protein-coding gene gene with protein product Approved 1q42.2 01q42.2 alpha-1 antiproteinase, antitrypsin SERPINA8 serpin peptidase inhibitor, clade A, member 8 "Serpin peptidase inhibitors|Neuropeptides" "739|1902" 1989-06-30 2001-06-29 2016-01-12 2023-01-20 183 ENSG00000135744 OTTHUMG00000037757 uc001hty.6 K02215 NM_000029 CCDS1585 P01019 "6089875|24172014" MGI:87963 RGD:2069 106150 119535 I04.953 ligandId:583 HGNC:333 "ENST00000366667.6|NM_001384479.1" HGNC:333 -HGNC:17258 AGTPBP1 ATP/GTP binding carboxypeptidase 1 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "KIAA1035|Nna1|CCP1" "cytosolic carboxypeptidase 1|tubulinyl-Tyr carboxypeptidase|carboxypeptidase-tubulin|tyrosine carboxypeptidase|soluble carboxypeptidase" ATP/GTP binding protein 1 "M14 carboxypeptidases|Armadillo like helical domain containing" "1321|1492" 2002-03-27 2021-02-04 2023-01-20 23287 ENSG00000135049 OTTHUMG00000020124 uc010mqc.4 AB028958 NM_015239 "CCDS83382|CCDS6672|CCDS75854|CCDS69615" Q9UPW5 11083920 MGI:2159437 RGD:1306307 606830 M14.028 HGNC:17258 "ENST00000357081.8|NM_001330701.2" HGNC:17258 +HGNC:17258 AGTPBP1 ATP/GTP binding carboxypeptidase 1 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "KIAA1035|Nna1|CCP1" "cytosolic carboxypeptidase 1|tubulinyl-Tyr carboxypeptidase|carboxypeptidase-tubulin|tyrosine carboxypeptidase|soluble carboxypeptidase" ATP/GTP binding protein 1 "M14 carboxypeptidases|Armadillo like helical domain containing" "1321|1492" 2002-03-27 2021-02-04 2023-01-20 23287 ENSG00000135049 OTTHUMG00000020124 uc010mqc.4 AB028958 NM_015239 "CCDS75854|CCDS69615|CCDS83382|CCDS6672" Q9UPW5 11083920 MGI:2159437 RGD:1306307 606830 M14.028 HGNC:17258 "ENST00000357081.8|NM_001330701.2" HGNC:17258 HGNC:336 AGTR1 angiotensin II receptor type 1 protein-coding gene gene with protein product Approved 3q24 03q24 "AT1|AT2R1|AGTR1A|AT2R1A|HAT1R|AG2S|AT2R1B|AT1B|ATR1" angiotensin II type 1 receptor AGTR1B angiotensin receptor 1B Angiotensin receptors 221 1992-08-25 2016-01-12 2023-01-20 185 ENSG00000144891 OTTHUMG00000159503 uc003ewj.4 M87290 NM_000685 CCDS3137 P30556 1550596 MGI:87965 RGD:2070 106165 138533 objectId:34 HGNC:336 "ENST00000349243.8|NM_000685.5" HGNC:336 HGNC:338 AGTR2 angiotensin II receptor type 2 protein-coding gene gene with protein product Approved Xq23 Xq23 "AT2|MRX88" angiotensin receptor 2 Angiotensin receptors 221 1992-08-25 2016-01-12 2023-01-20 186 ENSG00000180772 OTTHUMG00000022243 uc004eqh.5 AY324607 NM_000686 CCDS14569 P50052 1550596 MGI:87966 RGD:2072 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AGTR2 300034 159921 objectId:35 HGNC:338 "ENST00000371906.5|NM_000686.5" HGNC:338 -HGNC:13539 AGTRAP angiotensin II receptor associated protein protein-coding gene gene with protein product Approved 1p36.22 01p36.22 ATRAP 2002-09-12 2016-01-12 2023-01-20 57085 ENSG00000177674 OTTHUMG00000002230 uc001asv.4 AF165187 NM_020350 "CCDS30586|CCDS41248|CCDS44056|CCDS136|CCDS30585" Q6RW13 11733189 MGI:1339977 RGD:1359346 608729 HGNC:13539 "ENST00000314340.10|NM_020350.5" +HGNC:13539 AGTRAP angiotensin II receptor associated protein protein-coding gene gene with protein product Approved 1p36.22 01p36.22 ATRAP 2002-09-12 2016-01-12 2023-01-20 57085 ENSG00000177674 OTTHUMG00000002230 uc001asv.4 AF165187 NM_020350 "CCDS44056|CCDS41248|CCDS30586|CCDS30585|CCDS136" Q6RW13 11733189 MGI:1339977 RGD:1359346 608729 HGNC:13539 "ENST00000314340.10|NM_020350.5" HGNC:341 AGXT alanine--glyoxylate aminotransferase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "AGXT1|PH1|AGT|SPT|AGT1|TLH6|Ser-PyrAT" "oxalosis I|primary hyperoxaluria type 1|L-alanine: glyoxylate aminotransferase 1|glycolicaciduria" SPAT "serine:pyruvate aminotransferase|alanine--glyoxylate and serine--pyruvate aminotransferase" 1990-11-20 2022-08-15 2023-01-20 189 ENSG00000172482 OTTHUMG00000133354 uc002waa.5 D13368 NM_000030 CCDS2543 P21549 "2039493|2045108|2253628" MGI:1329033 RGD:2073 604285 119538 "2.6.1.44|2.6.1.51" HGNC:341 "ENST00000307503.4|NM_000030.3" HGNC:341 HGNC:14412 AGXT2 alanine--glyoxylate aminotransferase 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 AGT2 "beta-alanine-pyruvate aminotransferase|beta-ALAAT II" alanine-glyoxylate aminotransferase 2 2001-01-22 2010-05-07 2023-01-20 64902 ENSG00000113492 OTTHUMG00000090788 uc003jjf.4 AJ292204 NM_031900 "CCDS78000|CCDS3908" Q9BYV1 15240345 MGI:2146052 RGD:621767 612471 "2.6.1.44|2.6.1.40" HGNC:14412 "ENST00000231420.11|NM_031900.4" -HGNC:24618 AHCTF1 AT-hook containing transcription factor 1 protein-coding gene gene with protein product Approved 1q44 01q44 ELYS ELYS transcription factor like protein TMBS62 AT hook containing transcription factor 1 Nucleoporins 1051 2005-06-20 2015-11-23 2023-01-20 25909 ENSG00000153207 OTTHUMG00000040706 uc001ibv.3 NM_015446 "CCDS91190|CCDS1629|CCDS91191" Q8WYP5 "11952839|17098863" MGI:1915033 RGD:1561291 610853 HGNC:24618 "ENST00000648844.2|NM_001323342.2" +HGNC:24618 AHCTF1 AT-hook containing transcription factor 1 protein-coding gene gene with protein product Approved 1q44 01q44 ELYS ELYS transcription factor like protein TMBS62 AT hook containing transcription factor 1 Nucleoporins 1051 2005-06-20 2015-11-23 2023-01-20 25909 ENSG00000153207 OTTHUMG00000040706 uc001ibv.3 NM_015446 "CCDS91191|CCDS91190|CCDS1629" Q8WYP5 "11952839|17098863" MGI:1915033 RGD:1561291 610853 HGNC:24618 "ENST00000648844.2|NM_001323342.2" HGNC:24620 AHCTF1P1 AT-hook containing transcription factor 1 pseudogene 1 pseudogene pseudogene Approved 2q24.2 02q24.2 ELYS-like AHCTF1P "AT hook containing transcription factor 1 pseudogene|AT hook containing transcription factor 1 pseudogene 1" 2005-06-20 2010-01-12 2015-11-23 2020-04-20 285116 ENSG00000226121 NG_002622 HGNC:24620 -HGNC:343 AHCY adenosylhomocysteinase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "SAHH|AdoHcyase" S-adenosylhomocysteine hydrolase 1986-01-01 2009-06-12 2023-01-20 191 ENSG00000101444 OTTHUMG00000140098 uc002xai.4 M61832 NM_000687 "CCDS13233|CCDS54457" P23526 "7079734|6580258" MGI:87968 RGD:69260 180960 119546 objectId:1233 3.3.1.1 HGNC:343 "ENST00000217426.7|NM_000687.4" HGNC:343 +HGNC:343 AHCY adenosylhomocysteinase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "SAHH|AdoHcyase" S-adenosylhomocysteine hydrolase 1986-01-01 2009-06-12 2023-01-20 191 ENSG00000101444 OTTHUMG00000140098 uc002xai.4 M61832 NM_000687 "CCDS54457|CCDS13233" P23526 "7079734|6580258" MGI:87968 RGD:69260 180960 119546 objectId:1233 3.3.1.1 HGNC:343 "ENST00000217426.7|NM_000687.4" HGNC:343 HGNC:344 AHCYL1 adenosylhomocysteinase like 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "XPVKONA|IRBIT|PPP1R78" "inositol 1,4,5-trisphosphate receptor-binding protein|protein phosphatase 1, regulatory subunit 78" "S-adenosylhomocysteine hydrolase-like 1|adenosylhomocysteinase-like 1" Protein phosphatase 1 regulatory subunits 694 1999-07-23 2015-11-11 2023-01-20 10768 ENSG00000168710 OTTHUMG00000011652 uc001dyx.4 U82761 NM_001242673 "CCDS55620|CCDS818" O43865 "11904675|16754674|12525476" MGI:2385184 RGD:1309768 607826 HGNC:344 "ENST00000369799.10|NM_006621.7" -HGNC:22204 AHCYL2 adenosylhomocysteinase like 2 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "KIAA0828|long-IRBIT|IRBIT2|ADOHCYASE3" S-adenosylhomocysteine hydrolase-like 2 2008-01-17 2016-01-14 2023-01-20 23382 ENSG00000158467 OTTHUMG00000157677 uc011kov.3 AB020635 NM_001130720 "CCDS47706|CCDS47708|CCDS47707|CCDS5812" Q96HN2 24472682 MGI:1921590 RGD:1564895 616520 HGNC:22204 "ENST00000325006.8|NM_015328.4" +HGNC:22204 AHCYL2 adenosylhomocysteinase like 2 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "KIAA0828|long-IRBIT|IRBIT2|ADOHCYASE3" S-adenosylhomocysteine hydrolase-like 2 2008-01-17 2016-01-14 2023-01-20 23382 ENSG00000158467 OTTHUMG00000157677 uc011kov.3 AB020635 NM_001130720 "CCDS47707|CCDS5812|CCDS47706|CCDS47708" Q96HN2 24472682 MGI:1921590 RGD:1564895 616520 HGNC:22204 "ENST00000325006.8|NM_015328.4" HGNC:44993 AHCYP1 adenosylhomocysteinase pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 2013-01-04 2015-08-24 340844 NG_022175 PGOHUM00000290141 HGNC:44993 HGNC:44994 AHCYP2 adenosylhomocysteinase pseudogene 2 pseudogene pseudogene Approved 9q33.2 09q33.2 2013-01-04 2013-01-04 392387 ENSG00000238181 OTTHUMG00000020571 NG_021677 PGOHUM00000236763 HGNC:44994 HGNC:44995 AHCYP3 adenosylhomocysteinase pseudogene 3 pseudogene pseudogene Approved 2q12.1 02q12.1 2013-01-04 2013-01-04 402093 ENSG00000233955 OTTHUMG00000153048 NG_021515 PGOHUM00000240232 HGNC:44995 @@ -689,9 +689,9 @@ HGNC:44998 AHCYP6 adenosylhomocysteinase pseudogene 6 pseudogene pseudogene Appr HGNC:44999 AHCYP7 adenosylhomocysteinase pseudogene 7 pseudogene pseudogene Approved 15q21.2 15q21.2 2013-01-04 2014-07-15 645486 ENSG00000259465 OTTHUMG00000172446 NG_022129 PGOHUM00000293238 HGNC:44999 HGNC:45000 AHCYP8 adenosylhomocysteinase pseudogene 8 pseudogene pseudogene Approved 1q44 01q44 2013-01-04 2013-01-04 107063538 ENSG00000242529 OTTHUMG00000040381 NG_046356 PGOHUM00000244547 HGNC:45000 HGNC:25230 AHDC1 AT-hook DNA binding motif containing 1 protein-coding gene gene with protein product Approved 1p36.11-p35.3 01p36.11-p35.3 "DJ159A19.3|RP1-159A19.1" AT hook, DNA binding motif, containing 1 2005-07-21 2015-11-23 2023-01-20 27245 ENSG00000126705 OTTHUMG00000003398 uc057dvu.1 AK125431 NM_001029882 CCDS30652 Q5TGY3 "8619474|9110174" MGI:2444218 RGD:1310031 615790 423013 HGNC:25230 "ENST00000673934.1|NM_001371928.1" HGNC:25230 -HGNC:21575 AHI1 Abelson helper integration site 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "FLJ20069|ORF1|JBTS3" Jouberin Abelson helper integration site WD repeat domain containing 362 2003-08-22 2005-11-29 2023-01-20 54806 ENSG00000135541 OTTHUMG00000015631 uc003qgj.4 AJ459824 NM_017651 "CCDS47484|CCDS47483|CCDS94006" Q8N157 "15060101|16240161" MGI:87971 RGD:1303040 608894 119549 HGNC:21575 "ENST00000265602.11|NM_001134831.2" HGNC:21575 +HGNC:21575 AHI1 Abelson helper integration site 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "FLJ20069|ORF1|JBTS3" Jouberin Abelson helper integration site WD repeat domain containing 362 2003-08-22 2005-11-29 2023-01-20 54806 ENSG00000135541 OTTHUMG00000015631 uc003qgj.4 AJ459824 NM_017651 "CCDS47484|CCDS94006|CCDS47483" Q8N157 "15060101|16240161" MGI:87971 RGD:1303040 608894 119549 HGNC:21575 "ENST00000265602.11|NM_001134831.2" HGNC:21575 HGNC:32526 AHI1-DT AHI1 divergent transcript non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 "C6orf217|NCRNA00271|LINC00271" "chromosome 6 open reading frame 217|non-protein coding RNA 271|long intergenic non-protein coding RNA 271" Divergent transcripts 1990 2006-02-20 2021-07-22 2021-07-22 2021-07-22 100131814 ENSG00000231028 OTTHUMG00000015632 uc063rrh.1 NR_026805 P0C7V0 LINC00271 HGNC:32526 -HGNC:347 AHNAK AHNAK nucleoprotein protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "MGC5395|AHNAK1" desmoyokin AHNAK nucleoprotein (desmoyokin) PDZ domain containing 1220 1994-12-12 2007-03-30 2023-01-20 79026 ENSG00000124942 OTTHUMG00000167558 uc001ntl.4 M80899 NM_024060 "CCDS31584|CCDS44625" Q09666 "7987395|12153988" MGI:1316648 RGD:619779 103390 469934 HGNC:347 "ENST00000378024.9|NM_001620.3" +HGNC:347 AHNAK AHNAK nucleoprotein protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "MGC5395|AHNAK1" desmoyokin AHNAK nucleoprotein (desmoyokin) PDZ domain containing 1220 1994-12-12 2007-03-30 2023-01-20 79026 ENSG00000124942 OTTHUMG00000167558 uc001ntl.4 M80899 NM_024060 "CCDS44625|CCDS31584" Q09666 "7987395|12153988" MGI:1316648 RGD:619779 103390 469934 HGNC:347 "ENST00000378024.9|NM_001620.3" HGNC:20125 AHNAK2 AHNAK nucleoprotein 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 C14orf78 chromosome 14 open reading frame 78 PDZ domain containing 1220 2003-01-13 2007-03-26 2007-03-26 2023-01-20 113146 ENSG00000185567 OTTHUMG00000170765 uc010axc.2 AB095939 NM_138420 CCDS45177 Q8IVF2 15007166 MGI:2144831 RGD:1309696 608570 HGNC:20125 "ENST00000333244.6|NM_138420.4" HGNC:20125 HGNC:348 AHR aryl hydrocarbon receptor protein-coding gene gene with protein product Approved 7p21.1 07p21.1 bHLHe76 "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1993-05-18 2023-01-20 196 ENSG00000106546 OTTHUMG00000149967 uc011jxz.2 L19872 NM_001621 CCDS5366 P35869 8125016 MGI:105043 RGD:2074 600253 objectId:2951 HGNC:348 "ENST00000242057.9|NM_001621.5" HGNC:348 HGNC:346 AHRR aryl hydrocarbon receptor repressor protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "KIAA1234|bHLHe77" AHR repressor "AHH|AHHR" "aryl hydrocarbon receptor regulator|aryl-hydrocarbon receptor repressor" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1986-01-01 2003-09-12 2022-03-31 2023-03-15 57491 ENSG00000063438 OTTHUMG00000162171 uc003jav.4 AB033060 NM_020731 CCDS93682 A9YTQ3 "1070014|11423533" MGI:1333776 RGD:1559857 606517 HGNC:346 "ENST00000684583.1|NM_001377236.1" @@ -699,18 +699,18 @@ HGNC:1189 AHSA1 activator of HSP90 ATPase activity 1 protein-coding gene gene wi HGNC:20437 AHSA2P activator of HSP90 ATPase homolog 2, pseudogene pseudogene pseudogene Approved 2p15 02p15 "DKFZp564C236|Hch1|AHA1" AHSA2 "AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)|activator of HSP90 ATPase homolog 2" 2003-04-04 2017-11-03 2017-11-03 2023-03-15 130872 ENSG00000173209 OTTHUMG00000129437 uc002sbc.3 AK092817 NR_152210 Q719I0 12504007 MGI:1916133 RGD:1307171 HGNC:20437 HGNC:349 AHSG alpha 2-HS glycoprotein protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "FETUA|A2HS|HSGA" fetuin A Cystatins, type 4 968 1986-01-01 2016-05-23 2023-01-20 197 ENSG00000145192 OTTHUMG00000156605 uc003fqk.5 "D67013|M16961" NM_001622 "CCDS3278|CCDS87176" P02765 "9322749|7736783" MGI:107189 RGD:2075 138680 LI25-004 HGNC:349 "ENST00000411641.7|NM_001622.4" HGNC:18075 AHSP alpha hemoglobin stabilizing protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 EDRF alpha hemoglobin stabilising protein ERAF erythroid associated factor 2002-02-13 2009-10-07 2009-10-07 2023-01-20 51327 ENSG00000169877 OTTHUMG00000132461 uc002ecj.4 AF208865 NM_016633 CCDS10716 Q9NZD4 "11231637|12066189" MGI:2158492 RGD:1306725 LRG_1073|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1073.xml 605821 HGNC:18075 "ENST00000302312.9|NM_016633.4" -HGNC:13203 AICDA activation induced cytidine deaminase protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HIGM2|CDA2|ARP2|AID" activation-induced cytidine deaminase Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2000-09-19 2016-07-04 2023-01-20 57379 ENSG00000111732 OTTHUMG00000168676 uc001qur.3 AB040430 NM_020661 "CCDS81662|CCDS91650|CCDS41747" Q9GZX7 29335468 MGI:1342279 RGD:1303222 "AICDA base: Mutation registry for Aid deficiency|http://structure.bmc.lu.se/idbase/AICDAbase/|LRG_17|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_17.xml" 605257 119554 HGNC:13203 "ENST00000229335.11|NM_020661.4" HGNC:13203 +HGNC:13203 AICDA activation induced cytidine deaminase protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HIGM2|CDA2|ARP2|AID" activation-induced cytidine deaminase Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2000-09-19 2016-07-04 2023-01-20 57379 ENSG00000111732 OTTHUMG00000168676 uc001qur.3 AB040430 NM_020661 "CCDS81662|CCDS41747|CCDS91650" Q9GZX7 29335468 MGI:1342279 RGD:1303222 "AICDA base: Mutation registry for Aid deficiency|http://structure.bmc.lu.se/idbase/AICDAbase/|LRG_17|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_17.xml" 605257 119554 HGNC:13203 "ENST00000229335.11|NM_020661.4" HGNC:13203 HGNC:25761 AIDA axin interactor, dorsalization associated protein-coding gene gene with protein product Approved 1q41 01q41 FLJ12806 axin interaction partner and dorsalization antagonist C1orf80 chromosome 1 open reading frame 80 C2 domain containing 823 2005-05-24 2008-05-22 2008-05-22 2023-01-20 64853 ENSG00000186063 OTTHUMG00000037653 uc001hnn.4 BC043142 NM_022831 CCDS1533 Q96BJ3 "8619474|9110174|17681137" MGI:1919737 RGD:1592746 612375 HGNC:25761 "ENST00000340020.11|NM_022831.4" HGNC:54663 AIDAP1 AIDA pseudogene 1 pseudogene pseudogene Approved 2p25.1 02p25.1 2019-11-21 2020-01-21 646050 ENSG00000230154 NG_021555 HGNC:54664 AIDAP2 AIDA pseudogene 2 pseudogene pseudogene Approved 4q32.1 04q32.1 2019-11-21 2020-01-21 646890 ENSG00000251429 NG_030225 HGNC:54665 AIDAP3 AIDA pseudogene 3 pseudogene pseudogene Approved 18p11.32 18p11.32 2019-11-21 2020-01-21 100128360 ENSG00000264189 NG_030062 HGNC:352 AIF1 allograft inflammatory factor 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "IRT-1|AIF-1|Em:AF129756.17|IBA1" "interferon gamma responsive transcript|ionized calcium-binding adapter molecule 1" EF-hand domain containing 863 1997-07-01 2023-03-15 199 ENSG00000204472 OTTHUMG00000031246 uc003nuy.4 U19713 NM_001318970 "CCDS4706|CCDS34398" P55008 8912632 MGI:1343098 RGD:61924 601833 HGNC:352 "ENST00000376059.8|NM_001623.5" -HGNC:28904 AIF1L allograft inflammatory factor 1 like protein-coding gene gene with protein product Approved 9q34.12-q34.13 09q34.12-q34.13 "IBA2|FLJ12783" C9orf58 "chromosome 9 open reading frame 58|allograft inflammatory factor 1-like" EF-hand domain containing 863 2004-01-06 2008-10-21 2016-03-15 2023-03-15 83543 ENSG00000126878 OTTHUMG00000020817 uc004cad.2 AL136566 NM_031426 "CCDS6939|CCDS55348|CCDS55349" Q9BQI0 11230166 MGI:1919598 RGD:1305081 HGNC:28904 "ENST00000247291.8|NM_031426.4" -HGNC:8768 AIFM1 apoptosis inducing factor mitochondria associated 1 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "AIF|CMTX4|DFNX5" "PDCD8|NAMSD|AUNX1" "programmed cell death 8 (apoptosis-inducing factor)|neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)|apoptosis-inducing factor, mitochondrion-associated, 1|apoptosis inducing factor, mitochondria associated 1|auditory neuropathy, X-linked recessive 1" 1999-05-28 2006-11-16 2017-01-12 2023-03-15 9131 ENSG00000156709 OTTHUMG00000022392 uc004evg.4 AF100928 NM_001130846 "CCDS14619|CCDS48167|CCDS48166|CCDS14618" O95831 "9989411|23217327|25986071" MGI:1349419 RGD:620817 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AIFM1 300169 244686 1.1.1.- HGNC:8768 "ENST00000287295.8|NM_004208.4" HGNC:8768 +HGNC:28904 AIF1L allograft inflammatory factor 1 like protein-coding gene gene with protein product Approved 9q34.12-q34.13 09q34.12-q34.13 "IBA2|FLJ12783" C9orf58 "chromosome 9 open reading frame 58|allograft inflammatory factor 1-like" EF-hand domain containing 863 2004-01-06 2008-10-21 2016-03-15 2023-03-15 83543 ENSG00000126878 OTTHUMG00000020817 uc004cad.2 AL136566 NM_031426 "CCDS55348|CCDS6939|CCDS55349" Q9BQI0 11230166 MGI:1919598 RGD:1305081 HGNC:28904 "ENST00000247291.8|NM_031426.4" +HGNC:8768 AIFM1 apoptosis inducing factor mitochondria associated 1 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "AIF|CMTX4|DFNX5" "PDCD8|NAMSD|AUNX1" "programmed cell death 8 (apoptosis-inducing factor)|neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)|apoptosis-inducing factor, mitochondrion-associated, 1|apoptosis inducing factor, mitochondria associated 1|auditory neuropathy, X-linked recessive 1" 1999-05-28 2006-11-16 2017-01-12 2023-03-15 9131 ENSG00000156709 OTTHUMG00000022392 uc004evg.4 AF100928 NM_001130846 "CCDS48166|CCDS48167|CCDS14619|CCDS14618" O95831 "9989411|23217327|25986071" MGI:1349419 RGD:620817 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AIFM1 300169 244686 1.1.1.- HGNC:8768 "ENST00000287295.8|NM_004208.4" HGNC:8768 HGNC:44884 AIFM1P1 AIFM1 pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p12.31 "apoptosis-inducing factor, mitochondrion-associated, 1 pseudogene 1|apoptosis inducing factor, mitochondria associated 1 pseudogene 1" 2012-12-11 2019-01-18 2019-01-18 645120 ENSG00000225509 OTTHUMG00000017768 NG_021350 PGOHUM00000238680 HGNC:44884 HGNC:21411 AIFM2 apoptosis inducing factor mitochondria associated 2 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "FLJ14497|PRG3|FSP1" ferroptosis suppressor 1 AMID "apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death|apoptosis-inducing factor, mitochondrion-associated, 2" 2004-04-20 2006-11-16 2019-01-18 2023-01-20 84883 ENSG00000042286 OTTHUMG00000018398 uc010qjg.3 AK027403 NM_032797 CCDS7297 Q9BRQ8 "12135761|11980907|15958387|31634899" MGI:1918611 RGD:1304964 605159 HGNC:21411 "ENST00000307864.3|NM_032797.6" -HGNC:26398 AIFM3 apoptosis inducing factor mitochondria associated 3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "AIFL|FLJ30473" apoptosis-inducing factor, mitochondrion-associated, 3 2006-11-16 2019-01-18 2023-01-20 150209 ENSG00000183773 OTTHUMG00000150804 uc002ztj.3 AK094844 NM_144704 "CCDS54503|CCDS33605|CCDS13786" Q96NN9 15764604 MGI:1919418 RGD:1306028 617298 HGNC:26398 "ENST00000440238.4|NM_001386814.1" -HGNC:21607 AIG1 androgen induced 1 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "dJ95L4.1|AIG-1|FLJ10485" 2003-06-26 2016-07-01 2023-01-20 51390 ENSG00000146416 OTTHUMG00000015721 uc003qjh.5 AF153605 NM_016108 "CCDS69215|CCDS69216|CCDS87450|CCDS94014|CCDS5198|CCDS94013" Q9NVV5 11266118 MGI:1913503 RGD:1562920 608514 HGNC:21607 "ENST00000357847.9|NM_016108.4" +HGNC:26398 AIFM3 apoptosis inducing factor mitochondria associated 3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "AIFL|FLJ30473" apoptosis-inducing factor, mitochondrion-associated, 3 2006-11-16 2019-01-18 2023-01-20 150209 ENSG00000183773 OTTHUMG00000150804 uc002ztj.3 AK094844 NM_144704 "CCDS33605|CCDS54503|CCDS13786" Q96NN9 15764604 MGI:1919418 RGD:1306028 617298 HGNC:26398 "ENST00000440238.4|NM_001386814.1" +HGNC:21607 AIG1 androgen induced 1 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "dJ95L4.1|AIG-1|FLJ10485" 2003-06-26 2016-07-01 2023-01-20 51390 ENSG00000146416 OTTHUMG00000015721 uc003qjh.5 AF153605 NM_016108 "CCDS69215|CCDS69216|CCDS5198|CCDS87450|CCDS94014|CCDS94013" Q9NVV5 11266118 MGI:1913503 RGD:1562920 608514 HGNC:21607 "ENST00000357847.9|NM_016108.4" HGNC:43926 AIG1P1 androgen induced 1 pseudogene 1 pseudogene pseudogene Approved 5p13.1 05p13.1 2012-05-04 2016-07-01 2016-07-01 106479028 ENSG00000249089 OTTHUMG00000162194 NG_044322 PGOHUM00000235567 HGNC:43926 HGNC:357 AIM2 absent in melanoma 2 protein-coding gene gene with protein product Approved 1q23.1-q23.2 01q23.1-q23.2 PYHIN4 "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 1999-04-22 2023-01-20 9447 ENSG00000163568 OTTHUMG00000037183 uc001ftj.2 AF024714 NM_004833 CCDS1181 O14862 "9242382|25665578" MGI:2686159 RGD:1307283 604578 objectId:2923 HGNC:357 "ENST00000368130.9|NM_004833.3" HGNC:10648 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 protein-coding gene gene with protein product Approved 4q24 04q24 "EMAPII|EMAP-2|p43" "EMAP II|ARS-interacting multifunctional protein 1|multisynthetase complex auxiliary component p43" SCYE1 small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) Aminoacyl tRNA synthetase complex interacting multifunctional proteins 2116 2000-04-13 2009-05-20 2016-05-10 2023-01-20 9255 ENSG00000164022 OTTHUMG00000131217 uc011cfg.3 U10117 NM_004757 CCDS3674 Q12904 "7929199|7545917" MGI:102774 RGD:620466 603605 258625 HGNC:10648 "ENST00000672341.1|NM_001142416.2" HGNC:10648 @@ -718,19 +718,19 @@ HGNC:16543 AIMP1P1 aminoacyl tRNA synthetase complex interacting multifunctional HGNC:43693 AIMP1P2 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 pseudogene 2 pseudogene pseudogene Approved 1q24.3 01q24.3 2012-01-31 2016-05-10 2016-05-10 100873064 ENSG00000227177 OTTHUMG00000034833 NG_032149 PGOHUM00000244338 HGNC:43693 HGNC:20609 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "p38|PRO0992|JTV-1|JTV1" multisynthetase complex auxiliary component p38 "Small nucleolar RNA protein coding host genes|Aminoacyl tRNA synthetase complex interacting multifunctional proteins" "1835|2116" 2009-05-20 2016-05-10 2023-01-20 7965 ENSG00000106305 OTTHUMG00000122077 uc003spo.4 U24169 NM_006303 "CCDS87475|CCDS87476|CCDS5344" Q13155 "8666379|18695251" MGI:2385237 RGD:1560787 600859 HGNC:20609 "ENST00000223029.8|NM_006303.4" HGNC:20609 HGNC:358 AIP aryl hydrocarbon receptor interacting protein protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "XAP2|ARA9|FKBP16|FKBP37" "hepatitis B virus X-associated cellular protein 2|aryl hydrocarbon receptor-associated protein 9|FKBP prolyl isomerase 16|X-associated protein-2|FK506-binding protein 37|Ah receptor activated 9" aryl hydrocarbon receptor-interacting protein "FKBP prolyl isomerases|MicroRNA protein coding host genes" "910|1691" 1999-01-22 2001-11-29 2023-01-20 9049 ENSG00000110711 OTTHUMG00000167674 uc001olv.4 U31913 NM_001302959 "CCDS91515|CCDS8168|CCDS91516" O00170 "8972861|9111057" MGI:109622 RGD:628619 LRG_460|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_460.xml 605555 200951 HGNC:358 "ENST00000279146.8|NM_003977.4" HGNC:358 -HGNC:359 AIPL1 aryl hydrocarbon receptor interacting protein like 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 LCA4 "aryl hydrocarbon receptor-interacting protein-like 1|aryl hydrocarbon receptor interacting protein-like 1" FKBP prolyl isomerases 910 1999-03-18 2016-03-22 2023-01-20 23746 ENSG00000129221 OTTHUMG00000102043 uc002gcp.5 AF148864 NM_014336 "CCDS67132|CCDS67130|CCDS32539|CCDS11075|CCDS67133|CCDS32540|CCDS67131" Q9NZN9 "10615133|14555765|15365173" MGI:2148800 RGD:70906 Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1|http://www.retina-international.org/files/sci-news/aipl1mut.htm 604392 119559 HGNC:359 "ENST00000381129.8|NM_014336.5" HGNC:359 +HGNC:359 AIPL1 aryl hydrocarbon receptor interacting protein like 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 LCA4 "aryl hydrocarbon receptor-interacting protein-like 1|aryl hydrocarbon receptor interacting protein-like 1" FKBP prolyl isomerases 910 1999-03-18 2016-03-22 2023-01-20 23746 ENSG00000129221 OTTHUMG00000102043 uc002gcp.5 AF148864 NM_014336 "CCDS32540|CCDS67130|CCDS11075|CCDS32539|CCDS67133|CCDS67132|CCDS67131" Q9NZN9 "10615133|14555765|15365173" MGI:2148800 RGD:70906 Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1|http://www.retina-international.org/files/sci-news/aipl1mut.htm 604392 119559 HGNC:359 "ENST00000381129.8|NM_014336.5" HGNC:359 HGNC:360 AIRE autoimmune regulator protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "PGA1|APS1" autoimmune polyendocrinopathy candidiasis ectodermal dystrophy APECED autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) PHD finger proteins 88 1997-09-05 2007-06-20 2023-03-15 326 ENSG00000160224 OTTHUMG00000086921 uc002zei.4 AB006684 NM_000383 CCDS13706 O43918 9398840 MGI:1338803 RGD:1311139 "AIREbase: Mutation registry for APECED|http://structure.bmc.lu.se/idbase/AIREbase/|LRG_18|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_18.xml" 607358 119562 HGNC:360 "ENST00000291582.6|NM_000383.4" HGNC:360 HGNC:26039 AIRIM AFG2 interacting ribosome maturation factor protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ20508 C1orf109 chromosome 1 open reading frame 109 2005-06-03 2023-03-20 2023-03-20 2023-03-20 54955 ENSG00000116922 OTTHUMG00000004323 uc001cbp.3 AK000515 NM_017850 CCDS423 Q9NX04 "22548824|35354024" MGI:3041172 RGD:1560436 614799 HGNC:26039 "ENST00000486637.2|NM_001350770.2" HGNC:34515 AIRN antisense of IGF2R non-protein coding RNA non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 "AIR|NCRNA00088|IGF2RAS|IGF2R-AS1" "non-protein coding RNA 88|IGF2R antisense RNA 1 (non-protein coding)" antisense of IGF2R RNA (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2008-11-25 2012-08-16 2018-08-15 100271873 ENSG00000268257 OTTHUMG00000183173 uc031sqx.1 NR_047511 "18789384|19008856" MGI:1353471 604893 Air AIRN HGNC:34515 HGNC:30801 AJAP1 adherens junctions associated protein 1 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "SHREW1|SHREW-1|MOT8" transmembrane protein SHREW1 2005-07-11 2008-01-08 2023-01-20 55966 ENSG00000196581 OTTHUMG00000000645 uc001alo.5 AF175409 NM_018836 CCDS54 Q9UKB5 14595118 MGI:2685419 RGD:1590138 610972 HGNC:30801 "ENST00000378191.5|NM_018836.4" HGNC:37284 AJM1 apical junction component 1 homolog protein-coding gene gene with protein product Approved 9q34.3 09q34.3 ajm-1 C9orf172 chromosome 9 open reading frame 172 2009-09-11 2017-10-06 2017-10-06 2023-01-20 389813 ENSG00000232434 OTTHUMG00000187258 uc011meh.3 NM_001080482 CCDS48059 C9J069 MGI:2685842 RGD:1560470 HGNC:37284 "ENST00000436881.3|NM_001080482.5" -HGNC:20250 AJUBA ajuba LIM protein protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MGC15563 JUB jub, ajuba homolog (Xenopus laevis) Ajuba family 1403 2003-01-14 2011-11-10 2011-11-10 2023-01-20 84962 ENSG00000129474 OTTHUMG00000028711 uc001whz.4 AK025567 NM_001289097 "CCDS9582|CCDS9581" Q96IF1 10330178 MGI:1341886 RGD:620407 609066 HGNC:20250 "ENST00000262713.7|NM_032876.6" +HGNC:20250 AJUBA ajuba LIM protein protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MGC15563 JUB jub, ajuba homolog (Xenopus laevis) Ajuba family 1403 2003-01-14 2011-11-10 2011-11-10 2023-01-20 84962 ENSG00000129474 OTTHUMG00000028711 uc001whz.4 AK025567 NM_001289097 "CCDS9581|CCDS9582" Q96IF1 10330178 MGI:1341886 RGD:620407 609066 HGNC:20250 "ENST00000262713.7|NM_032876.6" HGNC:55449 AJUBA-DT AJUBA divergent transcript non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Divergent transcripts 1990 2021-01-15 2021-01-15 107984660 ENSG00000258457 XR_007064074 -HGNC:361 AK1 adenylate kinase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "Adenylate kinases|MicroRNA protein coding host genes" "356|1691" 1986-01-01 2023-01-20 203 ENSG00000106992 OTTHUMG00000020722 uc004bsm.4 J04809 NM_000476 "CCDS6881|CCDS83419" P00568 2542324 MGI:87977 RGD:2076 LRG_1187|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1187.xml 103000 119567 2.7.4.3 HGNC:361 "ENST00000644144.2|NM_000476.3" HGNC:361 -HGNC:362 AK2 adenylate kinase 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 Adenylate kinases 356 1986-01-01 2023-01-20 204 ENSG00000004455 OTTHUMG00000004131 uc001bwp.3 U84371 NM_001625 "CCDS374|CCDS373|CCDS81295|CCDS81294|CCDS81296" P54819 "8843353|6961883" MGI:87978 RGD:2077 LRG_133|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_133.xml 103020 173523 2.7.4.3 HGNC:362 "ENST00000672715.1|NM_001625.4" HGNC:362 +HGNC:361 AK1 adenylate kinase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "Adenylate kinases|MicroRNA protein coding host genes" "356|1691" 1986-01-01 2023-01-20 203 ENSG00000106992 OTTHUMG00000020722 uc004bsm.4 J04809 NM_000476 "CCDS83419|CCDS6881" P00568 2542324 MGI:87977 RGD:2076 LRG_1187|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1187.xml 103000 119567 2.7.4.3 HGNC:361 "ENST00000644144.2|NM_000476.3" HGNC:361 +HGNC:362 AK2 adenylate kinase 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 Adenylate kinases 356 1986-01-01 2023-01-20 204 ENSG00000004455 OTTHUMG00000004131 uc001bwp.3 U84371 NM_001625 "CCDS81295|CCDS81294|CCDS81296|CCDS373|CCDS374" P54819 "8843353|6961883" MGI:87978 RGD:2077 LRG_133|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_133.xml 103020 173523 2.7.4.3 HGNC:362 "ENST00000672715.1|NM_001625.4" HGNC:362 HGNC:24037 AK2P1 adenylate kinase 2 pseudogene 1 pseudogene pseudogene Approved 1p32.1 01p32.1 AK2B 2007-07-25 2007-07-25 266920 AF056332 NG_002393 10092943 HGNC:24037 HGNC:33542 AK2P2 adenylate kinase 2 pseudogene 2 pseudogene pseudogene Approved 2p22.3 02p22.3 2007-07-25 2016-10-05 339736 ENSG00000242272 OTTHUMG00000152054 NG_009660 PGOHUM00000240008 HGNC:33542 -HGNC:17376 AK3 adenylate kinase 3 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 AKL3L1 "AK6|AK3L1" "adenylate kinase 6|adenylate kinase 3 like 1" Adenylate kinases 356 2002-12-17 2005-04-07 2004-06-11 2023-01-20 50808 ENSG00000147853 OTTHUMG00000019472 uc003ziq.4 BC013771 NM_016282 "CCDS56562|CCDS6455|CCDS56561" Q9UIJ7 "8288|182062" MGI:1860835 RGD:619885 609290 HGNC:17376 "ENST00000381809.8|NM_016282.4" +HGNC:17376 AK3 adenylate kinase 3 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 AKL3L1 "AK6|AK3L1" "adenylate kinase 6|adenylate kinase 3 like 1" Adenylate kinases 356 2002-12-17 2005-04-07 2004-06-11 2023-01-20 50808 ENSG00000147853 OTTHUMG00000019472 uc003ziq.4 BC013771 NM_016282 "CCDS6455|CCDS56561|CCDS56562" Q9UIJ7 "8288|182062" MGI:1860835 RGD:619885 609290 HGNC:17376 "ENST00000381809.8|NM_016282.4" HGNC:31099 AK3P2 AK3 pseudogene 2 pseudogene pseudogene Approved 8q24.3 08q24.3 HsT26053 adenylate kinase 3 pseudogene 2 2005-10-06 2022-10-19 2022-10-19 100419074 ENSG00000250115 OTTHUMG00000160500 NG_026075 PGOHUM00000249519 HGNC:31099 HGNC:39062 AK3P3 AK3 pseudogene 3 pseudogene pseudogene Approved 7p15.3 07p15.3 adenylate kinase 3 pseudogene 3 2010-09-29 2022-10-19 2022-10-19 100419075 ENSG00000230042 OTTHUMG00000152600 NG_026542 PGOHUM00000233148 HGNC:39062 HGNC:39063 AK3P4 AK3 pseudogene 4 pseudogene pseudogene Approved 5q22.3 05q22.3 adenylate kinase 3 pseudogene 4 2010-09-29 2022-10-19 2022-10-19 100129959 ENSG00000248722 OTTHUMG00000162914 NG_028719 PGOHUM00000235732 HGNC:39063 @@ -745,7 +745,7 @@ HGNC:39067 AK4P4 adenylate kinase 4 pseudogene 4 pseudogene pseudogene Approved HGNC:39068 AK4P5 adenylate kinase 4 pseudogene 5 pseudogene pseudogene Approved 6q14.1 06q14.1 2010-09-30 2014-11-19 100526416 ENSG00000217377 OTTHUMG00000015090 NG_027847 PGOHUM00000261423 HGNC:39068 HGNC:39069 AK4P6 adenylate kinase 4 pseudogene 6 pseudogene pseudogene Approved 4q31.3 04q31.3 2010-09-30 2010-09-30 649288 ENSG00000235606 OTTHUMG00000161449 NG_022085 PGOHUM00000246100 HGNC:39069 HGNC:365 AK5 adenylate kinase 5 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 Adenylate kinases 356 1999-11-19 2023-01-20 26289 ENSG00000154027 OTTHUMG00000009796 uc001dhn.4 AF062595 NM_174858 "CCDS675|CCDS676" Q9Y6K8 10215863 MGI:2677491 RGD:1590818 608009 HGNC:365 "ENST00000354567.7|NM_174858.3" -HGNC:49151 AK6 adenylate kinase 6 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 CINAP coilin interacting nuclear ATPase protein "Adenylate kinases|Ribosomal biogenesis factors" "356|1729" 2013-09-19 2023-01-20 102157402 ENSG00000085231 OTTHUMG00000187252 NM_016283 "CCDS43324|CCDS4001" Q9Y3D8 "16079131|27477389" MGI:5510732 RGD:7387335 619357 2.7.4.3 HGNC:49151 "ENST00000380822.9|NM_016283.5" +HGNC:49151 AK6 adenylate kinase 6 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 CINAP coilin interacting nuclear ATPase protein "Adenylate kinases|Ribosomal biogenesis factors" "356|1729" 2013-09-19 2023-01-20 102157402 ENSG00000085231 OTTHUMG00000187252 NM_016283 "CCDS4001|CCDS43324" Q9Y3D8 "16079131|27477389" MGI:5510732 RGD:7387335 619357 2.7.4.3 HGNC:49151 "ENST00000380822.9|NM_016283.5" HGNC:51678 AK6P1 adenylate kinase 6 pseudogene 1 pseudogene pseudogene Approved 12p11.1 12p11.1 2015-05-06 2015-05-06 100132086 ENSG00000256614 OTTHUMG00000169291 PGOHUM00000291621 HGNC:51678 HGNC:51679 AK6P2 adenylate kinase 6 pseudogene 2 pseudogene pseudogene Approved 12q12 12q12 2015-05-06 2015-05-06 100128817 ENSG00000257173 OTTHUMG00000169296 PGOHUM00000291295 HGNC:51679 HGNC:20091 AK7 adenylate kinase 7 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "FLJ32864|FAP75|CFAP75" ATP-AMP transphosphorylase 7 "Adenylate kinases|Cilia and flagella associated" "356|1491" 2002-12-17 2023-01-20 122481 ENSG00000140057 OTTHUMG00000171421 uc001yfn.3 AK057426 NM_001350888 CCDS9945 Q96M32 21080915 MGI:1926051 RGD:1309600 615364 HGNC:20091 "ENST00000267584.9|NM_152327.5" HGNC:20091 @@ -763,16 +763,16 @@ HGNC:377 AKAP7 A-kinase anchoring protein 7 protein-coding gene gene with protei HGNC:378 AKAP8 A-kinase anchoring protein 8 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "AKAP95|DKFZp586B1222" A-kinase anchor protein, 95kDa A kinase (PRKA) anchor protein 8 A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2023-01-20 10270 ENSG00000105127 OTTHUMG00000182444 uc002nav.4 Y11997 NM_005858 CCDS12329 O43823 9473338 MGI:1928488 RGD:620832 604692 HGNC:378 "ENST00000269701.7|NM_005858.4" HGNC:29857 AKAP8L A-kinase anchoring protein 8 like protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "NAKAP95|HAP95" neighbor of A kinase anchoring protein 95 A kinase (PRKA) anchor protein 8-like 2004-02-18 2015-11-17 2023-01-20 26993 ENSG00000011243 OTTHUMG00000182446 uc002naw.2 BC000713 NM_014371 "CCDS77249|CCDS46005" Q9ULX6 "10748171|10761695" MGI:1860606 RGD:1359200 609475 HGNC:29857 "ENST00000397410.10|NM_014371.4" HGNC:49758 AKAP8P1 A-kinase anchoring protein 8 pseudogene 1 pseudogene pseudogene Approved 9p23 09p23 A kinase (PRKA) anchor protein 8 pseudogene 1 2014-02-14 2015-11-17 2015-11-17 646114 ENSG00000234146 OTTHUMG00000019553 NG_021607 PGOHUM00000235963 HGNC:49758 -HGNC:379 AKAP9 A-kinase anchoring protein 9 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "KIAA0803|AKAP350|AKAP450|CG-NAP|YOTIAO|HYPERION|PRKA9|MU-RMS-40.16A|PPP1R45|LQT11" "A-kinase anchoring protein 450|AKAP9-BRAF fusion protein|AKAP120-like protein|centrosome- and golgi-localized protein kinase N-associated protein|protein kinase A anchoring protein 9|A-kinase anchor protein, 350kDa|protein phosphatase 1, regulatory subunit 45|yotiao" A kinase (PRKA) anchor protein 9 "A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits" "396|694" 1999-09-16 2015-11-17 2023-01-20 10142 ENSG00000127914 OTTHUMG00000131127 uc003ulg.4 AF091711 NM_005751 "CCDS5622|CCDS94141|CCDS94142" Q99996 "9482789|10390370|24475373" MGI:2178217 RGD:620833 "AKAP9 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=AKAP9|LRG_331|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_331.xml" 604001 160008 HGNC:379 "ENST00000356239.8|NM_005751.5" HGNC:379 +HGNC:379 AKAP9 A-kinase anchoring protein 9 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "KIAA0803|AKAP350|AKAP450|CG-NAP|YOTIAO|HYPERION|PRKA9|MU-RMS-40.16A|PPP1R45|LQT11" "A-kinase anchoring protein 450|AKAP9-BRAF fusion protein|AKAP120-like protein|centrosome- and golgi-localized protein kinase N-associated protein|protein kinase A anchoring protein 9|A-kinase anchor protein, 350kDa|protein phosphatase 1, regulatory subunit 45|yotiao" A kinase (PRKA) anchor protein 9 "A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits" "396|694" 1999-09-16 2015-11-17 2023-01-20 10142 ENSG00000127914 OTTHUMG00000131127 uc003ulg.4 AF091711 NM_005751 "CCDS94142|CCDS94141|CCDS5622" Q99996 "9482789|10390370|24475373" MGI:2178217 RGD:620833 "AKAP9 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=AKAP9|LRG_331|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_331.xml" 604001 160008 HGNC:379 "ENST00000356239.8|NM_005751.5" HGNC:379 HGNC:368 AKAP10 A-kinase anchoring protein 10 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "D-AKAP2|PRKA10|MGC9414" "dual-specificity A-kinase anchoring protein 2|protein kinase A anchoring protein 10|mitochondrial A kinase PPKA anchor protein 10" A kinase (PRKA) anchor protein 10 A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2023-01-20 11216 ENSG00000108599 OTTHUMG00000059515 uc002gwo.5 AF037439 NM_007202 "CCDS11214|CCDS82091" O43572 9326583 MGI:1890218 RGD:1308869 604694 HGNC:368 "ENST00000225737.11|NM_007202.4" HGNC:369 AKAP11 A-kinase anchoring protein 11 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "KIAA0629|AKAP220|PRKA11|FLJ11304|DKFZp781I12161|PPP1R44" "AKAP 220|A-kinase anchoring protein, 220kDa|protein kinase A anchoring protein 11|protein phosphatase 1, regulatory subunit 44" A kinase (PRKA) anchor protein 11 "A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits" "396|694" 1999-09-16 2015-11-17 2023-01-20 11215 ENSG00000023516 OTTHUMG00000016805 uc001uys.2 AB014529 NM_016248 CCDS9383 Q9UKA4 "9734811|8621616" MGI:2684060 RGD:2079 604696 HGNC:369 "ENST00000025301.4|NM_016248.4" HGNC:370 AKAP12 A-kinase anchoring protein 12 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "AKAP250|SSeCKS" "gravin|Src-Suppressed C Kinase Substrate" "A kinase (PRKA) anchor protein (gravin) 12|A kinase (PRKA) anchor protein 12" A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2023-01-20 9590 ENSG00000131016 OTTHUMG00000015833 uc011eep.4 U81607 NM_001370346 "CCDS94020|CCDS5229|CCDS5230" Q02952 9000000 MGI:1932576 RGD:70988 604698 HGNC:370 "ENST00000402676.7|NM_005100.4" HGNC:371 AKAP13 A-kinase anchoring protein 13 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "Ht31|BRX|AKAP-Lbc|c-lbc|PROTO-LB|HA-3|ARHGEF13" LBC "lymphoid blast crisis oncogene|A kinase (PRKA) anchor protein 13" "A-kinase anchoring proteins|Pleckstrin homology domain containing|Dbl family Rho GEFs|Minor histocompatibility antigens|MicroRNA protein coding host genes" "396|682|722|870|1691" 1999-09-16 2015-11-17 2023-03-15 11214 ENSG00000170776 OTTHUMG00000172205 uc002blu.3 M90360 NM_007200 "CCDS32319|CCDS73778|CCDS32320" Q12802 "9627117|1860836" MGI:2676556 RGD:727893 604686 HGNC:371 "ENST00000394518.7|NM_007200.5" HGNC:55975 AKAP13-AS1 AKAP13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.3 15q25.3 Antisense RNAs 1987 2021-11-12 2021-11-12 123466214 ENSG00000259367 -HGNC:24061 AKAP14 A-kinase anchoring protein 14 protein-coding gene gene with protein product Approved Xq24 Xq24 AKAP28 A kinase (PRKA) anchor protein 14 A-kinase anchoring proteins 396 2004-09-09 2015-11-17 2023-01-20 158798 ENSG00000186471 OTTHUMG00000022285 uc004ese.4 AF514780 NM_178813 "CCDS35377|CCDS35376|CCDS14591" Q86UN6 12475942 MGI:3618288 RGD:708510 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AKAP14 300462 HGNC:24061 "ENST00000371431.8|NM_178813.6" +HGNC:24061 AKAP14 A-kinase anchoring protein 14 protein-coding gene gene with protein product Approved Xq24 Xq24 AKAP28 A kinase (PRKA) anchor protein 14 A-kinase anchoring proteins 396 2004-09-09 2015-11-17 2023-01-20 158798 ENSG00000186471 OTTHUMG00000022285 uc004ese.4 AF514780 NM_178813 "CCDS35377|CCDS14591|CCDS35376" Q86UN6 12475942 MGI:3618288 RGD:708510 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AKAP14 300462 HGNC:24061 "ENST00000371431.8|NM_178813.6" HGNC:18783 AKAP17A A-kinase anchoring protein 17A protein-coding gene gene with protein product Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 "XE7|XE7Y|DXYS155E|MGC39904|721P|CCDC133" "CXYorf3|SFRS17A" "chromosome X and Y open reading frame 3|splicing factor, arginine/serine-rich 17A|A kinase (PRKA) anchor protein 17A" "A-kinase anchoring proteins|Pseudoautosomal region 1" "396|715" 2006-09-22 2010-09-08 2015-11-17 2023-01-20 8227 ENSG00000197976 OTTHUMG00000021063 uc004fpn.4 L03426 NM_005088 CCDS14116 Q02040 "9736779|1438229|19840947" MGI:2443758 RGD:1564640 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SFRS17A "312095|465000" HGNC:18783 "ENST00000313871.9|NM_005088.3" HGNC:38514 AKAP17BP A-kinase anchoring protein 17B, pseudogene pseudogene pseudogene Approved Xq24 Xq24 "AKAP16B|AKAP16BP" "A kinase (PRKA) anchor protein 16B, pseudogene|A kinase (PRKA) anchor protein 17B, pseudogene" A-kinase anchoring proteins 396 2010-09-08 2013-10-16 2015-11-17 2015-11-17 139516 ENSG00000214992 OTTHUMG00000022267 NG_022632 17302988 MGI:2443758 PGOHUM00000241516 HGNC:38514 -HGNC:1170 AKIP1 A-kinase interacting protein 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 BCA3 C11orf17 "chromosome 11 open reading frame 17|A kinase (PRKA) interacting protein 1" 2000-07-31 2011-04-18 2015-11-24 2023-01-20 56672 ENSG00000166452 OTTHUMG00000165653 uc001mgx.4 AF512007 NM_020642 "CCDS7793|CCDS55743|CCDS55744" Q9NQ31 "20562110|18178962|15630084" MGI:3041226 RGD:1306959 609191 HGNC:1170 "ENST00000309377.9|NM_020642.4" +HGNC:1170 AKIP1 A-kinase interacting protein 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 BCA3 C11orf17 "chromosome 11 open reading frame 17|A kinase (PRKA) interacting protein 1" 2000-07-31 2011-04-18 2015-11-24 2023-01-20 56672 ENSG00000166452 OTTHUMG00000165653 uc001mgx.4 AF512007 NM_020642 "CCDS55744|CCDS55743|CCDS7793" Q9NQ31 "20562110|18178962|15630084" MGI:3041226 RGD:1306959 609191 HGNC:1170 "ENST00000309377.9|NM_020642.4" HGNC:25744 AKIRIN1 akirin 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ12666 C1orf108 chromosome 1 open reading frame 108 2005-06-03 2008-06-23 2008-06-23 2023-01-20 79647 ENSG00000174574 OTTHUMG00000007496 uc001ccw.4 AK022728 NM_024595 "CCDS433|CCDS44113" Q9H9L7 19200367 MGI:1915300 RGD:1585989 615164 HGNC:25744 "ENST00000432648.8|NM_024595.3" HGNC:50794 AKIRIN1P1 akirin 1 pseudogene 1 pseudogene pseudogene Approved 12q21.31 12q21.31 2014-06-18 2014-06-18 100418731 ENSG00000257786 OTTHUMG00000170163 NG_034052 PGOHUM00000239529 HGNC:50794 HGNC:50797 AKIRIN1P2 akirin 1 pseudogene 2 pseudogene pseudogene Approved Xq12 Xq12 2014-06-18 2014-06-18 2017-03-10 106480306 ENSG00000228125 OTTHUMG00000021742 NG_008960 PGOHUM00000241824 HGNC:50797 @@ -795,16 +795,16 @@ HGNC:45062 AKR1B10P1 aldo-keto reductase family 1 member B10 pseudogene 1 pseudo HGNC:45063 AKR1B10P2 aldo-keto reductase family 1 member B10 pseudogene 2 pseudogene pseudogene Approved 18q22.1 18q22.1 2013-02-07 2016-06-03 2016-06-03 643582 ENSG00000263355 OTTHUMG00000178549 NG_022495 PGOHUM00000235092 HGNC:45063 HGNC:37281 AKR1B15 aldo-keto reductase family 1 member B15 protein-coding gene gene with protein product Approved 7q33 07q33 Aldo-keto reductases 399 2009-09-09 2016-06-03 2023-01-20 441282 ENSG00000227471 OTTHUMG00000155376 uc011kpr.3 NM_001080538 "CCDS94205|CCDS47715" C9JRZ8 25577493 "MGI:101918|MGI:107673|MGI:1915111" RGD:708475 616336 HGNC:37281 "ENST00000457545.7|NM_001080538.3" HGNC:384 AKR1C1 aldo-keto reductase family 1 member C1 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "DDH|MBAB|DD1|HAKRC" dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase DDH1 aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) Aldo-keto reductases 399 1994-09-14 2016-06-03 2023-01-20 1645 ENSG00000187134 OTTHUMG00000017580 uc001ihq.4 D26124 NM_001353 CCDS7061 Q04828 8011662 "MGI:1918111|MGI:1924587|MGI:1933427|MGI:2145458|MGI:2151104" RGD:1306847 600449 "1.3.1.20|1.1.1.149|1.1.1.112" HGNC:384 "ENST00000380872.9|NM_001353.6" -HGNC:385 AKR1C2 aldo-keto reductase family 1 member C2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "DD|BABP|DD2|HAKRD|MCDR2" dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III "DDH2|TDD" "aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)|testicular 17,20-desmolase deficiency" Aldo-keto reductases 399 1994-09-14 2016-06-03 2023-01-20 1646 ENSG00000151632 OTTHUMG00000017584 uc057rik.1 L32592 NM_001354 "CCDS7062|CCDS44350|CCDS81438" P52895 "9716498|21802064" "MGI:1918111|MGI:1924587|MGI:1933427|MGI:2145458|MGI:2151104" RGD:1311841 600450 292247 "1.3.1.20|1.1.1.213" HGNC:385 "ENST00000380753.9|NM_001393392.1" HGNC:385 +HGNC:385 AKR1C2 aldo-keto reductase family 1 member C2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "DD|BABP|DD2|HAKRD|MCDR2" dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III "DDH2|TDD" "aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)|testicular 17,20-desmolase deficiency" Aldo-keto reductases 399 1994-09-14 2016-06-03 2023-01-20 1646 ENSG00000151632 OTTHUMG00000017584 uc057rik.1 L32592 NM_001354 "CCDS81438|CCDS7062|CCDS44350" P52895 "9716498|21802064" "MGI:1918111|MGI:1924587|MGI:1933427|MGI:2145458|MGI:2151104" RGD:1311841 600450 292247 "1.3.1.20|1.1.1.213" HGNC:385 "ENST00000380753.9|NM_001393392.1" HGNC:385 HGNC:386 AKR1C3 aldo-keto reductase family 1 member C3 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "KIAA0119|DDX|HAKRB|PGFS" "dihydrodiol dehydrogenase X|prostaglandin F synthase|3-alpha hydroxysteroid dehydrogenase, type II" HSD17B5 "hydroxysteroid (17-beta) dehydrogenase 5|aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)" Aldo-keto reductases 399 1998-09-29 2016-06-03 2023-01-20 8644 ENSG00000196139 OTTHUMG00000017585 uc001ihu.4 L43839 NM_003739 CCDS7063 P42330 "7650035|9792917" "MGI:1918111|MGI:1933427|MGI:2145420|MGI:2145458|MGI:2151104" RGD:708428 603966 objectId:1382 "1.1.1.213|1.1.1.188" HGNC:386 "ENST00000380554.5|NM_003739.6" HGNC:387 AKR1C4 aldo-keto reductase family 1 member C4 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "DD4|HAKRA|C11|3-alpha-HSD|CDR|MGC22581" "chlordecone reductase|3-alpha hydroxysteroid dehydrogenase, type I|dihydrodiol dehydrogenase 4" CHDR aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) Aldo-keto reductases 399 1993-08-26 2016-06-03 2023-01-20 1109 ENSG00000198610 OTTHUMG00000017591 uc057rjf.1 M33375 NM_001818 CCDS7064 P17516 7789999 "MGI:1351661|MGI:1351662|MGI:1924587|MGI:1933427|MGI:2145458|MGI:2151104|MGI:2653678" 600451 292259 1.1.1.225 HGNC:387 "ENST00000263126.3|NM_001818.5" HGNC:387 HGNC:44679 AKR1C5P aldo-keto reductase family 1 member C5, pseudogene pseudogene pseudogene Approved 10p15.1 10p15.1 aldo-keto reductase family 1, member C5, pseudogene Aldo-keto reductases 399 2012-12-04 2016-06-03 2016-06-03 100996684 ENSG00000225418 OTTHUMG00000017583 PGOHUM00000262838 HGNC:44680 AKR1C6P aldo-keto reductase family 1 member C6, pseudogene pseudogene pseudogene Approved 10p15.1 10p15.1 TAKR truncated aldo-keto reductase Aldo-keto reductases 399 2012-12-04 2016-06-03 2016-06-03 389932 ENSG00000151631 OTTHUMG00000017578 NR_026743 PGOHUM00000258456 HGNC:44680 HGNC:44681 AKR1C7P aldo-keto reductase family 1 member C7, pseudogene pseudogene pseudogene Approved 10p15.1 10p15.1 Aldo-keto reductases 399 2012-12-04 2016-06-03 2016-06-03 648947 ENSG00000215267 OTTHUMG00000017588 NG_023403 PGOHUM00000238338 HGNC:44681 HGNC:23469 AKR1C8 aldo-keto reductase family 1 member C8 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "AKR1CL1|AKR1C8P" "aldo-keto reductase family 1, member C-like 1|aldo-keto reductase family 1 member C8, pseudogene" Aldo-keto reductases 399 2004-05-28 2021-09-24 2021-09-24 2023-03-15 340811 ENSG00000264006 OTTHUMG00000184213 NM_001395972 CCDS91207 Q5T2L2 15164054 RGD:1307514 PGOHUM00000289729 HGNC:23469 "ENST00000648824.2|NM_001395972.1" -HGNC:388 AKR1D1 aldo-keto reductase family 1 member D1 protein-coding gene gene with protein product Approved 7q33 07q33 delta 4-3-ketosteroid-5-beta-reductase SRD5B1 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) Aldo-keto reductases 399 1995-11-02 2016-06-03 2023-01-20 6718 ENSG00000122787 OTTHUMG00000155787 uc064ijt.1 Z28339 NM_005989 "CCDS55170|CCDS55169|CCDS5846" P51857 "7508385|10343119" MGI:2384785 RGD:620752 604741 139142 1.3.99.6 HGNC:388 "ENST00000242375.8|NM_005989.4" HGNC:388 +HGNC:388 AKR1D1 aldo-keto reductase family 1 member D1 protein-coding gene gene with protein product Approved 7q33 07q33 delta 4-3-ketosteroid-5-beta-reductase SRD5B1 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) Aldo-keto reductases 399 1995-11-02 2016-06-03 2023-01-20 6718 ENSG00000122787 OTTHUMG00000155787 uc064ijt.1 Z28339 NM_005989 "CCDS55170|CCDS5846|CCDS55169" P51857 "7508385|10343119" MGI:2384785 RGD:620752 604741 139142 1.3.99.6 HGNC:388 "ENST00000242375.8|NM_005989.4" HGNC:388 HGNC:11288 AKR1D1P1 aldo-keto reductase family 1 member D1 pseudogene 1 pseudogene pseudogene Approved 1q24.2 01q24.2 "SRD5BP1|AKR1D1P" "steroid-5-beta-reductase, beta polypeptide pseudogene 1|aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) pseudogene" 1999-01-07 2010-01-19 2016-06-03 2016-06-03 80701 ENSG00000227776 OTTHUMG00000034681 AF283650 NG_002683 10343119 PGOHUM00000245070 HGNC:11288 -HGNC:23437 AKR1E2 aldo-keto reductase family 1 member E2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "MGC10612|HTSP1|htAKR" "1,5-anhydro-D-fructose reductase|human testis specific protein|human testis aldo-keto reductase" "AKRDC1|AKR1CL2" aldo-keto reductase family 1, member C-like 2 Aldo-keto reductases 399 2003-11-18 2009-09-09 2016-06-03 2023-01-20 83592 ENSG00000165568 OTTHUMG00000017577 uc001ihi.5 AB040820 NM_031436 "CCDS59210|CCDS59209|CCDS31134" Q96JD6 "15118078|12604216" MGI:1914758 RGD:1309599 617451 1.1.1.263 HGNC:23437 "ENST00000298375.12|NM_001040177.3" +HGNC:23437 AKR1E2 aldo-keto reductase family 1 member E2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "MGC10612|HTSP1|htAKR" "1,5-anhydro-D-fructose reductase|human testis specific protein|human testis aldo-keto reductase" "AKRDC1|AKR1CL2" aldo-keto reductase family 1, member C-like 2 Aldo-keto reductases 399 2003-11-18 2009-09-09 2016-06-03 2023-01-20 83592 ENSG00000165568 OTTHUMG00000017577 uc001ihi.5 AB040820 NM_031436 "CCDS59209|CCDS31134|CCDS59210" Q96JD6 "15118078|12604216" MGI:1914758 RGD:1309599 617451 1.1.1.263 HGNC:23437 "ENST00000298375.12|NM_001040177.3" HGNC:389 AKR7A2 aldo-keto reductase family 7 member A2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 AFAR aflatoxin aldehyde reductase Aldo-keto reductases 399 1998-11-17 2016-06-03 2023-01-20 8574 ENSG00000053371 OTTHUMG00000002522 uc001bbw.4 AF026947 NM_003689 CCDS194 O43488 9576847 MGI:107796 RGD:620311 603418 HGNC:389 "ENST00000235835.8|NM_003689.4" HGNC:24062 AKR7A2P1 AKR7A2 pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 AFARP1 aldo-keto reductase family 7 member A2 pseudogene 1 2010-09-30 2020-06-04 2020-06-04 246182 ENSG00000229020 OTTHUMG00000012135 AJ277796 NR_002796 12879023 PGOHUM00000244853 HGNC:24062 HGNC:55059 AKR7A2P2 AKR7A2P pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 2020-06-04 2020-06-04 2020-06-04 2020-06-04 159007 ENSG00000224341 NG_022631 @@ -823,26 +823,26 @@ HGNC:395 ALAD aminolevulinate dehydratase protein-coding gene gene with protein HGNC:396 ALAS1 5'-aminolevulinate synthase 1 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 ALAS-H "ALAS3|ALAS" aminolevulinate, delta-, synthase 1 1986-01-01 2014-11-19 2023-01-20 211 ENSG00000023330 OTTHUMG00000158108 uc062kkd.1 X56351 NM_000688 CCDS2847 P13196 "7698013|11267664" MGI:87989 RGD:68392 125290 2.3.1.37 HGNC:396 "ENST00000484952.6|NM_000688.6" HGNC:397 ALAS2 5'-aminolevulinate synthase 2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 ALAS-E "sideroblastic/hypochromic anemia|erythroid-specific delta-aminolevulinate synthase" ASB "aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)|aminolevulinate, delta-, synthase 2" 1989-05-25 2014-11-19 2023-03-15 212 ENSG00000158578 OTTHUMG00000021641 uc004dua.4 NM_000032 "CCDS14366|CCDS35303|CCDS43960" P22557 "1577484|7949148" MGI:87990 RGD:2084 LRG_1163|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1163.xml 301300 119573 2.3.1.37 HGNC:397 "ENST00000650242.1|NM_000032.5" HGNC:397 HGNC:399 ALB albumin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 Albuminoid family 1620 1986-01-01 2006-06-30 2006-06-30 2023-01-20 213 ENSG00000163631 OTTHUMG00000129919 uc003hgs.5 V00494 NM_000477 CCDS3555 P02768 "6292049|6192711" MGI:87991 RGD:2085 Albumin mutation database|http://www.albumin.org/ 103600 119576 HGNC:399 "ENST00000295897.9|NM_000477.7" HGNC:399 -HGNC:400 ALCAM activated leukocyte cell adhesion molecule protein-coding gene gene with protein product Approved 3q13.11 03q13.11 "CD166|MEMD" activated leucocyte cell adhesion molecule "CD molecules|V-set domain containing|C2-set domain containing|Ig-like cell adhesion molecule family" "471|590|592|1410" 1997-01-17 2002-08-08 2023-01-20 214 ENSG00000170017 OTTHUMG00000159192 uc003dvx.4 AK054632 NM_001627 "CCDS58841|CCDS33810" Q13740 7760007 MGI:1313266 RGD:619972 601662 CD166 HGNC:400 "ENST00000306107.9|NM_001627.4" +HGNC:400 ALCAM activated leukocyte cell adhesion molecule protein-coding gene gene with protein product Approved 3q13.11 03q13.11 "CD166|MEMD" activated leucocyte cell adhesion molecule "CD molecules|V-set domain containing|C2-set domain containing|Ig-like cell adhesion molecule family" "471|590|592|1410" 1997-01-17 2002-08-08 2023-01-20 214 ENSG00000170017 OTTHUMG00000159192 uc003dvx.4 AK054632 NM_001627 "CCDS33810|CCDS58841" Q13740 7760007 MGI:1313266 RGD:619972 601662 CD166 HGNC:400 "ENST00000306107.9|NM_001627.4" HGNC:402 ALDH1A1 aldehyde dehydrogenase 1 family member A1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 RALDH1 retinaldehyde dehydrogenase 1 "PUMB1|ALDH1" aldehyde dehydrogenase 1 family, member A1 Aldehyde dehydrogenases 398 1986-01-01 2015-11-18 2023-01-20 216 ENSG00000165092 OTTHUMG00000020019 uc004ajd.4 K03000 NM_000689 CCDS6644 P00352 1709013 "MGI:1347050|MGI:1353450" RGD:2087 Human Polymorphisms of ALDH Genes|http://www.aldh.org 100640 1.2.1.36 HGNC:402 "ENST00000297785.8|NM_000689.5" -HGNC:15472 ALDH1A2 aldehyde dehydrogenase 1 family member A2 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 RALDH2 retinaldehyde dehydrogenase 2 aldehyde dehydrogenase 1 family, member A2 Aldehyde dehydrogenases 398 2001-03-30 2015-11-18 2023-01-20 8854 ENSG00000128918 OTTHUMG00000132624 uc002aex.4 AB015228 NM_001206897 "CCDS45266|CCDS55968|CCDS10163|CCDS10164" O94788 9819382 MGI:107928 RGD:620250 603687 469936 HGNC:15472 "ENST00000249750.9|NM_003888.4" +HGNC:15472 ALDH1A2 aldehyde dehydrogenase 1 family member A2 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 RALDH2 retinaldehyde dehydrogenase 2 aldehyde dehydrogenase 1 family, member A2 Aldehyde dehydrogenases 398 2001-03-30 2015-11-18 2023-01-20 8854 ENSG00000128918 OTTHUMG00000132624 uc002aex.4 AB015228 NM_001206897 "CCDS10164|CCDS45266|CCDS55968|CCDS10163" O94788 9819382 MGI:107928 RGD:620250 603687 469936 HGNC:15472 "ENST00000249750.9|NM_003888.4" HGNC:27515 ALDH1A2-AS1 ALDH1A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.3 15q21.3 Antisense RNAs 1987 2021-01-07 2021-01-07 283665 ENSG00000259285 NR_147215 -HGNC:409 ALDH1A3 aldehyde dehydrogenase 1 family member A3 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 RALDH3 retinaldehyde dehydrogenase 3 ALDH6 aldehyde dehydrogenase 1 family, member A3 Aldehyde dehydrogenases 398 1994-07-07 2015-11-18 2023-01-20 220 ENSG00000184254 OTTHUMG00000186439 uc002bwn.5 U07919 NM_000693 "CCDS10389|CCDS76794" P47895 7698756 MGI:1861722 RGD:628662 600463 328691 1.2.1.5 HGNC:409 "ENST00000329841.10|NM_000693.4" HGNC:409 +HGNC:409 ALDH1A3 aldehyde dehydrogenase 1 family member A3 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 RALDH3 retinaldehyde dehydrogenase 3 ALDH6 aldehyde dehydrogenase 1 family, member A3 Aldehyde dehydrogenases 398 1994-07-07 2015-11-18 2023-01-20 220 ENSG00000184254 OTTHUMG00000186439 uc002bwn.5 U07919 NM_000693 "CCDS76794|CCDS10389" P47895 7698756 MGI:1861722 RGD:628662 600463 328691 1.2.1.5 HGNC:409 "ENST00000329841.10|NM_000693.4" HGNC:409 HGNC:55416 ALDH1A3-AS1 ALDH1A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Antisense RNAs 1987 2021-01-06 2021-01-06 101927751 ENSG00000259583 NR_135827 HGNC:407 ALDH1B1 aldehyde dehydrogenase 1 family member B1 protein-coding gene gene with protein product Approved 9p13.1 09p13.1 ALDHX ALDH5 aldehyde dehydrogenase 1 family, member B1 Aldehyde dehydrogenases 398 1992-02-13 2015-11-18 2023-01-20 219 ENSG00000137124 OTTHUMG00000019938 uc004aay.4 M63967 NM_000692 CCDS6615 P30837 2061311 MGI:1919785 RGD:1306737 100670 469938 1.2.1.3 HGNC:407 "ENST00000377698.4|NM_000692.5" HGNC:407 -HGNC:3978 ALDH1L1 aldehyde dehydrogenase 1 family member L1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "10-fTHF|FDH" cytosolic 10-formyltetrahydrofolate dehydrogenase FTHFD "formyltetrahydrofolate dehydrogenase|aldehyde dehydrogenase 1 family, member L1" Aldehyde dehydrogenases 398 1999-07-23 2005-01-27 2015-11-18 2023-03-15 10840 ENSG00000144908 OTTHUMG00000125551 uc003eim.3 AF052732 NM_012190 "CCDS58851|CCDS58850|CCDS3034" O75891 18848533 MGI:1340024 RGD:621294 600249 1.5.1.6 HGNC:3978 "ENST00000393434.7|NM_012190.4" +HGNC:3978 ALDH1L1 aldehyde dehydrogenase 1 family member L1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "10-fTHF|FDH" cytosolic 10-formyltetrahydrofolate dehydrogenase FTHFD "formyltetrahydrofolate dehydrogenase|aldehyde dehydrogenase 1 family, member L1" Aldehyde dehydrogenases 398 1999-07-23 2005-01-27 2015-11-18 2023-03-15 10840 ENSG00000144908 OTTHUMG00000125551 uc003eim.3 AF052732 NM_012190 "CCDS58850|CCDS3034|CCDS58851" O75891 18848533 MGI:1340024 RGD:621294 600249 1.5.1.6 HGNC:3978 "ENST00000393434.7|NM_012190.4" HGNC:40244 ALDH1L1-AS1 ALDH1L1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 ALDH1L1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874204 ENSG00000250218 OTTHUMG00000162640 uc031sbq.2 NR_046602 ALDH1L1-AS1 HGNC:40244 HGNC:42446 ALDH1L1-AS2 ALDH1L1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 ALDH1L1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-05-06 100862662 ENSG00000246022 OTTHUMG00000162642 uc062nki.1 NR_046383 ALDH1L1-AS2 HGNC:42446 HGNC:26777 ALDH1L2 aldehyde dehydrogenase 1 family member L2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ38508|mtFDH" mitochondrial 10-formyltetrahydrofolate dehydrogenase aldehyde dehydrogenase 1 family, member L2 Aldehyde dehydrogenases 398 2005-01-25 2015-11-18 2023-01-20 160428 ENSG00000136010 OTTHUMG00000169823 uc001tlc.4 AK095827 NM_001034173 CCDS31891 Q3SY69 20498374 MGI:2444680 RGD:1309458 613584 1.5.1.6 HGNC:26777 "ENST00000258494.14|NM_001034173.4" HGNC:404 ALDH2 aldehyde dehydrogenase 2 family member protein-coding gene gene with protein product Approved 12q24.12 12q24.12 aldehyde dehydrogenase 2 family (mitochondrial) "Aldehyde dehydrogenases|MicroRNA protein coding host genes" "398|1691" 1986-01-01 2018-02-08 2023-01-20 217 ENSG00000111275 OTTHUMG00000169603 uc001tst.4 M26760 NM_000690 "CCDS55885|CCDS9155" P05091 "4015823|2987944" MGI:99600 RGD:69219 Human Polymorphisms of ALDH Genes|http://www.aldh.org 100650 469940 objectId:2595 1.2.1.3 HGNC:404 "ENST00000261733.7|NM_000690.4" HGNC:405 ALDH3A1 aldehyde dehydrogenase 3 family member A1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 aldehyde dehydrogenase, dimeric NADP-preferring ALDH3 aldehyde dehydrogenase 3 family, member A1 Aldehyde dehydrogenases 398 1986-01-01 2015-11-18 2023-01-20 218 ENSG00000108602 OTTHUMG00000059469 uc002gwj.4 M74542 NM_000691 "CCDS82090|CCDS11212" P30838 "7774944|1737758" MGI:1353451 RGD:2088 Human Polymorphisms of ALDH Genes|http://www.aldh.org/ 100660 1.2.1.5 HGNC:405 "ENST00000225740.11|NM_000691.5" HGNC:403 ALDH3A2 aldehyde dehydrogenase 3 family member A2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 FALDH fatty aldehyde dehydrogenase "SLS|ALDH10" aldehyde dehydrogenase 3 family, member A2 Aldehyde dehydrogenases 398 1996-06-14 2015-11-18 2023-01-20 224 ENSG00000072210 OTTHUMG00000059471 uc002gwb.2 L47162 NM_000382 "CCDS32589|CCDS11210" P51648 7894487 MGI:1353452 RGD:61866 609523 119583 1.2.1.3 HGNC:403 "ENST00000176643.11|NM_000382.3" HGNC:403 -HGNC:410 ALDH3B1 aldehyde dehydrogenase 3 family member B1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "aldehyde dehydrogenase 7|aldehyde dehydrogenase 3B1" ALDH7 aldehyde dehydrogenase 3 family, member B1 Aldehyde dehydrogenases 398 1997-01-22 2015-11-18 2023-01-20 221 ENSG00000006534 OTTHUMG00000154910 uc031xti.2 U10868 NM_000694 "CCDS73336|CCDS76443|CCDS73335" P43353 "9161417|7828891" MGI:1914939 RGD:1359546 600466 1.2.1.5 HGNC:410 "ENST00000342456.11|NM_000694.4" +HGNC:410 ALDH3B1 aldehyde dehydrogenase 3 family member B1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "aldehyde dehydrogenase 7|aldehyde dehydrogenase 3B1" ALDH7 aldehyde dehydrogenase 3 family, member B1 Aldehyde dehydrogenases 398 1997-01-22 2015-11-18 2023-01-20 221 ENSG00000006534 OTTHUMG00000154910 uc031xti.2 U10868 NM_000694 "CCDS76443|CCDS73336|CCDS73335" P43353 "9161417|7828891" MGI:1914939 RGD:1359546 600466 1.2.1.5 HGNC:410 "ENST00000342456.11|NM_000694.4" HGNC:411 ALDH3B2 aldehyde dehydrogenase 3 family member B2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "aldehyde dehydrogenase 8|acetaldehyde dehydrogenase 8" ALDH8 aldehyde dehydrogenase 3 family, member B2 Aldehyde dehydrogenases 398 1997-01-22 2015-11-18 2023-01-20 222 ENSG00000132746 OTTHUMG00000167284 uc001oms.4 U37519 NM_000695 CCDS31622 P48448 "8890755|9161417" "MGI:1920708|MGI:2147613" "RGD:1584166|RGD:1585230" 601917 1.2.1.5 HGNC:411 "ENST00000673966.2|NM_001393402.2" -HGNC:406 ALDH4A1 aldehyde dehydrogenase 4 family member A1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 P5CDh "L-glutamate gamma-semialdehyde dehydrogenase|Delta-1-pyrroline-5-carboxylate dehydrogenase" ALDH4 aldehyde dehydrogenase 4 family, member A1 "Aldehyde dehydrogenases|MicroRNA protein coding host genes" "398|1691" 1998-11-24 2015-11-18 2023-01-20 8659 ENSG00000159423 OTTHUMG00000002443 uc001bbc.4 U24266 NM_001161504 "CCDS81273|CCDS53272|CCDS188" P30038 8621661 MGI:2443883 RGD:1624206 Human Polymorphisms of ALDH Genes|http://www.aldh.org/ 606811 119588 1.2.1.88 HGNC:406 "ENST00000375341.8|NM_003748.4" HGNC:406 -HGNC:408 ALDH5A1 aldehyde dehydrogenase 5 family member A1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "SSADH|SSDH" succinate-semialdehyde dehydrogenase aldehyde dehydrogenase 5 family, member A1 Aldehyde dehydrogenases 398 1999-06-11 2015-11-18 2023-01-20 7915 ENSG00000112294 OTTHUMG00000014356 uc003neg.4 L34820 NM_001080 "CCDS4555|CCDS4556" P51649 "7814412|9059628" MGI:2441982 RGD:621422 "BIOMBD|http://www.biopku.org/home/biomdb.asp|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ALDH5A1" 610045 119592 objectId:2466 1.2.1.24 HGNC:408 "ENST00000357578.8|NM_001080.3" HGNC:408 +HGNC:406 ALDH4A1 aldehyde dehydrogenase 4 family member A1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 P5CDh "L-glutamate gamma-semialdehyde dehydrogenase|Delta-1-pyrroline-5-carboxylate dehydrogenase" ALDH4 aldehyde dehydrogenase 4 family, member A1 "Aldehyde dehydrogenases|MicroRNA protein coding host genes" "398|1691" 1998-11-24 2015-11-18 2023-01-20 8659 ENSG00000159423 OTTHUMG00000002443 uc001bbc.4 U24266 NM_001161504 "CCDS188|CCDS81273|CCDS53272" P30038 8621661 MGI:2443883 RGD:1624206 Human Polymorphisms of ALDH Genes|http://www.aldh.org/ 606811 119588 1.2.1.88 HGNC:406 "ENST00000375341.8|NM_003748.4" HGNC:406 +HGNC:408 ALDH5A1 aldehyde dehydrogenase 5 family member A1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "SSADH|SSDH" succinate-semialdehyde dehydrogenase aldehyde dehydrogenase 5 family, member A1 Aldehyde dehydrogenases 398 1999-06-11 2015-11-18 2023-01-20 7915 ENSG00000112294 OTTHUMG00000014356 uc003neg.4 L34820 NM_001080 "CCDS4556|CCDS4555" P51649 "7814412|9059628" MGI:2441982 RGD:621422 "BIOMBD|http://www.biopku.org/home/biomdb.asp|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ALDH5A1" 610045 119592 objectId:2466 1.2.1.24 HGNC:408 "ENST00000357578.8|NM_001080.3" HGNC:408 HGNC:7179 ALDH6A1 aldehyde dehydrogenase 6 family member A1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 malonate-semialdehyde dehydrogenase (acetylating) MMSDH aldehyde dehydrogenase 6 family, member A1 Aldehyde dehydrogenases 398 1994-05-12 2015-11-18 2023-01-20 4329 ENSG00000119711 OTTHUMG00000171203 uc001xpo.5 M93405 NM_001278593 "CCDS9826|CCDS61501" Q02252 1527093 MGI:1915077 RGD:621556 603178 289319 1.2.1.27 HGNC:7179 "ENST00000553458.6|NM_005589.4" HGNC:7179 -HGNC:877 ALDH7A1 aldehyde dehydrogenase 7 family member A1 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "EPD|PDE" "antiquitin 1|26g turgor protein homolog|alpha-aminoadipic semialdehyde dehydrogenase|alpha-AASA dehydrogenase|delta1-piperideine-6-carboxylate dehydrogenease|P6c dehydrogenase" ATQ1 aldehyde dehydrogenase 7 family, member A1 Aldehyde dehydrogenases 398 1995-12-11 2015-11-18 2023-01-20 501 ENSG00000164904 OTTHUMG00000128942 uc003ktx.5 S74728 NM_001182 "CCDS56380|CCDS4137" P49419 9417906 MGI:108186 RGD:1308614 BIOMBD|http://www.biopku.org/home/biomdb.asp 107323 119596 1.2.1.31 HGNC:877 "ENST00000409134.8|NM_001182.5" HGNC:877 +HGNC:877 ALDH7A1 aldehyde dehydrogenase 7 family member A1 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "EPD|PDE" "antiquitin 1|26g turgor protein homolog|alpha-aminoadipic semialdehyde dehydrogenase|alpha-AASA dehydrogenase|delta1-piperideine-6-carboxylate dehydrogenease|P6c dehydrogenase" ATQ1 aldehyde dehydrogenase 7 family, member A1 Aldehyde dehydrogenases 398 1995-12-11 2015-11-18 2023-01-20 501 ENSG00000164904 OTTHUMG00000128942 uc003ktx.5 S74728 NM_001182 "CCDS4137|CCDS56380" P49419 9417906 MGI:108186 RGD:1308614 BIOMBD|http://www.biopku.org/home/biomdb.asp 107323 119596 1.2.1.31 HGNC:877 "ENST00000409134.8|NM_001182.5" HGNC:877 HGNC:878 ALDH7A1P1 aldehyde dehydrogenase 7 family member A1 pseudogene 1 pseudogene pseudogene Approved 5q13.3 05q13.3 ATQL1 "antiquitin-like 1|aldehyde dehydrogenase 7 family, member A1 pseudogene 1" 1997-05-09 2005-08-01 2015-11-18 2016-10-05 541 ENSG00000251400 OTTHUMG00000162511 AF002693 NG_001082 "9417906|16004729" PGOHUM00000235664 HGNC:878 HGNC:879 ALDH7A1P2 aldehyde dehydrogenase 7 family member A1 pseudogene 2 pseudogene pseudogene Approved 2q31.1 02q31.1 ATQL2 "antiquitin-like 2|aldehyde dehydrogenase 7 family, member A1 pseudogene 2" 1997-05-09 2010-09-22 2015-11-18 2015-11-18 542 ENSG00000232292 OTTHUMG00000154092 NG_023632 9417906 PGOHUM00000240425 HGNC:879 HGNC:880 ALDH7A1P3 aldehyde dehydrogenase 7 family member A1 pseudogene 3 pseudogene pseudogene Approved 7q36.1 07q36.1 ATQL3 "antiquitin-like 3|aldehyde dehydrogenase 7 family, member A1 pseudogene 3" 1997-05-09 2010-09-22 2015-11-18 2016-10-05 543 ENSG00000243853 OTTHUMG00000157476 AF002694 NG_001083 9417906 PGOHUM00000233076 HGNC:880 @@ -850,13 +850,13 @@ HGNC:881 ALDH7A1P4 aldehyde dehydrogenase 7 family member A1 pseudogene 4 pseudo HGNC:15471 ALDH8A1 aldehyde dehydrogenase 8 family member A1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 ALDH12 aldehyde dehydrogenase 8 family, member A1 Aldehyde dehydrogenases 398 2001-03-30 2015-11-18 2023-01-20 64577 ENSG00000118514 OTTHUMG00000015623 uc003qew.3 AL021939 NM_001193480 "CCDS5172|CCDS5171|CCDS55057" Q9H2A2 11007799 MGI:2653900 RGD:1590218 606467 HGNC:15471 "ENST00000265605.7|NM_022568.4" HGNC:412 ALDH9A1 aldehyde dehydrogenase 9 family member A1 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 E3 "ALDH7|ALDH4|ALDH9" aldehyde dehydrogenase 9 family, member A1 Aldehyde dehydrogenases 398 1994-12-14 2015-11-18 2023-01-20 223 ENSG00000143149 OTTHUMG00000034677 uc001gdh.2 U34252 NM_000696 CCDS1250 P49189 "8112751|8786138" MGI:1861622 RGD:68409 Human Polymorphisms of ALDH Genes|http://www.aldh.org 602733 objectId:2467 HGNC:412 "ENST00000354775.5|NM_000696.4" HGNC:28114 ALDH16A1 aldehyde dehydrogenase 16 family member A1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 MGC10204 aldehyde dehydrogenase 16 family, member A1 Aldehyde dehydrogenases 398 2005-01-25 2015-11-18 2023-01-20 126133 ENSG00000161618 OTTHUMG00000183163 uc002pnt.4 AY007096 NM_153329 "CCDS46141|CCDS12766" Q8IZ83 19184135 MGI:1916998 RGD:1566295 613358 HGNC:28114 "ENST00000293350.9|NM_153329.4" -HGNC:9722 ALDH18A1 aldehyde dehydrogenase 18 family member A1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 P5CS delta-1-pyrroline-5-carboxylate synthase "GSAS|PYCS|SPG9" "pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)|spastic paraplegia 9 (autosomal dominant)" Aldehyde dehydrogenases 398 1996-10-02 2004-08-12 2015-11-18 2023-01-20 5832 ENSG00000059573 OTTHUMG00000018815 uc001kkz.4 X94453 NM_002860 "CCDS7443|CCDS31257" P54886 "8921385|26297558" MGI:1888908 RGD:1311431 138250 119578 HGNC:9722 "ENST00000371224.7|NM_002860.4" HGNC:9722 -HGNC:414 ALDOA aldolase, fructose-bisphosphate A protein-coding gene gene with protein product Approved 16p11.2 16p11.2 aldolase A, fructose-bisphosphate Aldolases 1903 1986-01-01 2015-12-04 2023-01-20 226 ENSG00000149925 OTTHUMG00000132107 uc002dvx.4 X05236 NM_000034 "CCDS58450|CCDS10668" P04075 3570299 MGI:87994 RGD:2089 LRG_1180|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1180.xml 103850 119599 4.1.2.13 HGNC:414 "ENST00000642816.3|NM_001243177.4" HGNC:414 +HGNC:9722 ALDH18A1 aldehyde dehydrogenase 18 family member A1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 P5CS delta-1-pyrroline-5-carboxylate synthase "GSAS|PYCS|SPG9" "pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)|spastic paraplegia 9 (autosomal dominant)" Aldehyde dehydrogenases 398 1996-10-02 2004-08-12 2015-11-18 2023-01-20 5832 ENSG00000059573 OTTHUMG00000018815 uc001kkz.4 X94453 NM_002860 "CCDS31257|CCDS7443" P54886 "8921385|26297558" MGI:1888908 RGD:1311431 138250 119578 HGNC:9722 "ENST00000371224.7|NM_002860.4" HGNC:9722 +HGNC:414 ALDOA aldolase, fructose-bisphosphate A protein-coding gene gene with protein product Approved 16p11.2 16p11.2 aldolase A, fructose-bisphosphate Aldolases 1903 1986-01-01 2015-12-04 2023-01-20 226 ENSG00000149925 OTTHUMG00000132107 uc002dvx.4 X05236 NM_000034 "CCDS10668|CCDS58450" P04075 3570299 MGI:87994 RGD:2089 LRG_1180|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1180.xml 103850 119599 4.1.2.13 HGNC:414 "ENST00000642816.3|NM_001243177.4" HGNC:414 HGNC:415 ALDOAP1 ALDOA pseudogene 1 pseudogene pseudogene Approved 3p21.2 03p21.2 "aldolase A, fructose-bisphosphate pseudogene 1|aldolase, fructose-bisphosphate A pseudogene 1" 1986-01-01 2019-01-18 2019-01-18 391538 ENSG00000242849 OTTHUMG00000157814 NG_004867 PGOHUM00000299439 HGNC:415 HGNC:416 ALDOAP2 ALDOA pseudogene 2 pseudogene pseudogene Approved 10q26.13 10q26.13 "aldolase A, fructose-bisphosphate pseudogene 2|aldolase, fructose-bisphosphate A pseudogene 2" 1986-01-01 2019-01-18 2019-01-18 228 ENSG00000214297 OTTHUMG00000019228 M21191 NG_005637 3674018 PGOHUM00000238648 HGNC:416 HGNC:417 ALDOB aldolase, fructose-bisphosphate B protein-coding gene gene with protein product Approved 9q31.1 09q31.1 aldolase B, fructose-bisphosphate Aldolases 1903 1986-01-01 2015-12-04 2023-01-20 229 ENSG00000136872 OTTHUMG00000020378 uc004bbk.3 X01098 NM_000035 CCDS6756 P05062 15880727 MGI:87995 RGD:2090 "Hereditary Fructose Intolerance/Aldolase|http://www.bu.edu/aldolase/|LRG_1244|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1244.xml" 612724 119601 4.1.2.13 HGNC:417 "ENST00000647789.2|NM_000035.4" HGNC:417 HGNC:418 ALDOC aldolase, fructose-bisphosphate C protein-coding gene gene with protein product Approved 17q11.2 17q11.2 aldolase C, fructose-bisphosphate "Endoribonucleases|Aldolases" "1687|1903" 1986-01-01 2015-12-04 2023-01-20 230 ENSG00000109107 OTTHUMG00000132605 uc002hbp.4 AF054987 NM_005165 CCDS11236 P09972 MGI:101863 RGD:2091 103870 4.1.2.13 HGNC:418 "ENST00000226253.9|NM_005165.3" -HGNC:18294 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HMT-1|HMAT1|CDG1K|Mat-1" "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)|asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)|ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase" Glycosyl transferases group 1 domain containing 427 2003-10-15 2019-01-21 2023-01-20 56052 ENSG00000033011 OTTHUMG00000129529 uc002cym.4 AB019038 NM_019109 "CCDS10528|CCDS81946" Q9BT22 "10704531|14973782" MGI:2384774 RGD:1310700 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 605907 119603 2.4.1.142 HGNC:18294 "ENST00000262374.10|NM_019109.5" HGNC:18294 +HGNC:18294 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HMT-1|HMAT1|CDG1K|Mat-1" "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)|asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)|ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase" Glycosyl transferases group 1 domain containing 427 2003-10-15 2019-01-21 2023-01-20 56052 ENSG00000033011 OTTHUMG00000129529 uc002cym.4 AB019038 NM_019109 "CCDS81946|CCDS10528" Q9BT22 "10704531|14973782" MGI:2384774 RGD:1310700 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 605907 119603 2.4.1.142 HGNC:18294 "ENST00000262374.10|NM_019109.5" HGNC:18294 HGNC:33721 ALG1L1P ALG1 like 1, pseudogene pseudogene pseudogene Approved 3q21.2 03q21.2 ALG1L1 asparagine-linked glycosylation 1-like 1 ALG1L "asparagine-linked glycosylation 1-like|ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like|ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like (pseudogene)" 2009-04-14 2022-07-14 2022-07-14 2023-03-15 200810 ENSG00000189366 OTTHUMG00000159588 uc003eig.3 BC073816 NR_171194 MGI:2384774 HGNC:33721 HGNC:37258 ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 asparagine-linked glycosylation 1-like 2 Glycosyl transferases group 1 domain containing 427 2009-09-24 2019-01-18 2023-03-15 644974 ENSG00000251287 OTTHUMG00000159782 uc011bld.2 BC127756 NM_001136152 C9J202 MGI:2384774 PGOHUM00000258160 HGNC:37258 "ENST00000425059.1|NM_001136152.1" HGNC:44372 ALG1L3P ALG1 like 3, pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 asparagine-linked glycosylation 1-like 3, pseudogene 2012-09-13 2019-01-18 2019-01-18 100132066 ENSG00000251087 OTTHUMG00000160250 NG_008784 PGOHUM00000245452 HGNC:44372 @@ -876,14 +876,14 @@ HGNC:23056 ALG3 ALG3 alpha-1,3- mannosyltransferase protein-coding gene gene wit HGNC:45159 ALG3P1 ALG3 pseudogene 1 pseudogene pseudogene Approved 5p15.32 05p15.32 2013-02-25 2019-01-18 2019-01-18 442131 ENSG00000251568 OTTHUMG00000161662 NG_004807 PGOHUM00000235111 HGNC:45159 HGNC:20266 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase protein-coding gene gene with protein product Approved 13q13.3 13q13.3 bA421P11.2 "asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)|asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)" Glycosyltransferase family 2 428 2003-10-15 2019-01-18 2023-01-20 29880 ENSG00000120697 OTTHUMG00000016741 uc001uvy.4 AF088028 NM_013338 "CCDS9361|CCDS45033" Q9Y673 10359825 MGI:1913498 RGD:1308900 604565 2.4.1.117 HGNC:20266 "ENST00000239891.4|NM_013338.5" HGNC:23157 ALG6 ALG6 alpha-1,3-glucosyltransferase protein-coding gene gene with protein product Approved 1p31.3 01p31.3 dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)" Alpha-1,3-glucosyltransferases 447 2003-10-15 2019-01-18 2023-01-20 29929 ENSG00000088035 OTTHUMG00000009140 uc021oof.1 AF063604 NM_013339 CCDS30735 Q9Y672 "10359825|11875054" MGI:2444031 RGD:1308815 "Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/|LRG_1260|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1260.xml" 604566 119624 2.4.1.267 HGNC:23157 "ENST00000263440.6|NM_013339.4" HGNC:23157 -HGNC:23161 ALG8 ALG8 alpha-1,3-glucosyltransferase protein-coding gene gene with protein product Approved 11q14.1 11q14.1 MGC2840 dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)" Alpha-1,3-glucosyltransferases 447 2003-10-15 2019-01-18 2023-01-20 79053 ENSG00000159063 OTTHUMG00000166594 uc001oza.2 AJ224875 NM_024079 "CCDS8258|CCDS41692" Q9BVK2 MGI:2141959 RGD:1305468 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 608103 119626 2.4.1.265 HGNC:23161 "ENST00000299626.10|NM_024079.5" HGNC:23161 -HGNC:15672 ALG9 ALG9 alpha-1,2-mannosyltransferase protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase|dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase|dol-P-Man dependent alpha-1,2-mannosyltransferase" DIBD1 "disrupted in bipolar affective disorder 1|asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)|asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)|asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)" Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 2003-04-23 2004-08-26 2019-01-18 2023-01-20 79796 ENSG00000086848 OTTHUMG00000166819 uc031yet.2 NM_024740 "CCDS73380|CCDS53709|CCDS73379|CCDS41714" Q9H6U8 "12030331|15148656" MGI:1924753 RGD:1311272 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 606941 119629 "2.4.1.259|2.4.1.261" HGNC:15672 "ENST00000616540.5|NM_024740.2" HGNC:15672 +HGNC:23161 ALG8 ALG8 alpha-1,3-glucosyltransferase protein-coding gene gene with protein product Approved 11q14.1 11q14.1 MGC2840 dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)" Alpha-1,3-glucosyltransferases 447 2003-10-15 2019-01-18 2023-01-20 79053 ENSG00000159063 OTTHUMG00000166594 uc001oza.2 AJ224875 NM_024079 "CCDS41692|CCDS8258" Q9BVK2 MGI:2141959 RGD:1305468 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 608103 119626 2.4.1.265 HGNC:23161 "ENST00000299626.10|NM_024079.5" HGNC:23161 +HGNC:15672 ALG9 ALG9 alpha-1,2-mannosyltransferase protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase|dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase|dol-P-Man dependent alpha-1,2-mannosyltransferase" DIBD1 "disrupted in bipolar affective disorder 1|asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)|asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)|asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)" Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 2003-04-23 2004-08-26 2019-01-18 2023-01-20 79796 ENSG00000086848 OTTHUMG00000166819 uc031yet.2 NM_024740 "CCDS41714|CCDS73380|CCDS73379|CCDS53709" Q9H6U8 "12030331|15148656" MGI:1924753 RGD:1311272 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 606941 119629 "2.4.1.259|2.4.1.261" HGNC:15672 "ENST00000616540.5|NM_024740.2" HGNC:15672 HGNC:41409 ALG9-IT1 ALG9 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 11q23.1 11q23.1 ALG9 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874303 ENSG00000254450 OTTHUMG00000166796 uc058hfk.1 ALG9-IT1 HGNC:23162 ALG10 ALG10 alpha-1,2-glucosyltransferase protein-coding gene gene with protein product Approved 12p11.1 12p11.1 "FLJ14751|DIE2|ALG10A" "derepression of ITR1 expression 2 homolog (S. cerevisiae)|dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase" "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)|asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)" Alpha-1,2-glucosyltransferases 448 2003-10-15 2019-01-18 2023-01-20 84920 ENSG00000139133 OTTHUMG00000169285 uc001rlm.4 AJ312278 NM_032834 CCDS41769 Q5BKT4 MGI:2146159 RGD:708500 618355 2.4.1.256 HGNC:23162 "ENST00000266483.7|NM_032834.4" -HGNC:31088 ALG10B ALG10 alpha-1,2-glucosyltransferase B protein-coding gene gene with protein product Approved 12q12 12q12 KCR1 "potassium channel regulator 1|dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase" asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) Alpha-1,2-glucosyltransferases 448 2004-11-30 2019-01-18 2023-01-20 144245 ENSG00000175548 OTTHUMG00000169298 uc001rln.5 AY845858 NM_001013620 "CCDS31772|CCDS76548" Q5I7T1 MGI:2146159 603313 2.4.1.256 HGNC:31088 "ENST00000308742.9|NM_001013620.4" +HGNC:31088 ALG10B ALG10 alpha-1,2-glucosyltransferase B protein-coding gene gene with protein product Approved 12q12 12q12 KCR1 "potassium channel regulator 1|dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase" asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) Alpha-1,2-glucosyltransferases 448 2004-11-30 2019-01-18 2023-01-20 144245 ENSG00000175548 OTTHUMG00000169298 uc001rln.5 AY845858 NM_001013620 "CCDS76548|CCDS31772" Q5I7T1 MGI:2146159 603313 2.4.1.256 HGNC:31088 "ENST00000308742.9|NM_001013620.4" HGNC:32456 ALG11 ALG11 alpha-1,2-mannosyltransferase protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "KIAA0266|CDG1P" GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase "asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)|asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)" Glycosyl transferases group 1 domain containing 427 2006-03-24 2019-01-18 2023-01-20 440138 ENSG00000253710 OTTHUMG00000016959 uc001vga.4 AK025456 NM_001004127 CCDS31977 Q2TAA5 20080937 MGI:2142632 RGD:1564725 613666 280090 2.4.1.131 HGNC:32456 "ENST00000521508.2|NM_001004127.3" HGNC:32456 HGNC:19358 ALG12 ALG12 alpha-1,6-mannosyltransferase protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "ECM39|CDG1G" "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase|dol-P-Man dependent alpha-1,6-mannosyltransferase" "asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)|asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)" Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 2003-10-15 2019-01-18 2023-01-20 79087 ENSG00000182858 OTTHUMG00000150289 uc003biy.4 AJ303120 NM_024105 CCDS14081 Q9BV10 11983712 MGI:2385025 RGD:1304826 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 607144 119610 2.4.1.260 HGNC:19358 "ENST00000330817.11|NM_024105.4" HGNC:19358 -HGNC:30881 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit protein-coding gene gene with protein product Approved Xq23 Xq23 "MDS031|YGL047W|FLJ23018|TDRD13|CDG1S" "tudor domain containing 13|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase" "GLT28D1|CXorf45" "glycosyltransferase 28 domain containing 1|chromosome X open reading frame 45|asparagine-linked glycosylation 13 homolog (S. cerevisiae)" "UDP-N-acetylglucosaminyltransferase subunits|OTU domain containing|Tudor domain containing" "449|669|780" 2004-09-16 2006-11-07 2019-01-18 2023-03-15 79868 ENSG00000101901 OTTHUMG00000022209 uc011msy.3 AF220051 NM_018466 "CCDS55477|CCDS59173|CCDS76011|CCDS14559|CCDS76013" Q9NP73 "22492991|24501762" MGI:1914824 RGD:1359416 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ALG13 300776 327338 C85.005 2.4.1.141 HGNC:30881 "ENST00000394780.8|NM_001099922.3" HGNC:30881 +HGNC:30881 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit protein-coding gene gene with protein product Approved Xq23 Xq23 "MDS031|YGL047W|FLJ23018|TDRD13|CDG1S" "tudor domain containing 13|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase" "GLT28D1|CXorf45" "glycosyltransferase 28 domain containing 1|chromosome X open reading frame 45|asparagine-linked glycosylation 13 homolog (S. cerevisiae)" "UDP-N-acetylglucosaminyltransferase subunits|OTU domain containing|Tudor domain containing" "449|669|780" 2004-09-16 2006-11-07 2019-01-18 2023-03-15 79868 ENSG00000101901 OTTHUMG00000022209 uc011msy.3 AF220051 NM_018466 "CCDS59173|CCDS55477|CCDS76011|CCDS76013|CCDS14559" Q9NP73 "22492991|24501762" MGI:1914824 RGD:1359416 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ALG13 300776 327338 C85.005 2.4.1.141 HGNC:30881 "ENST00000394780.8|NM_001099922.3" HGNC:30881 HGNC:41277 ALG13-AS1 ALG13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq23 Xq23 ALG13 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 106478971 ENSG00000229487 OTTHUMG00000067670 uc065atf.1 ALG13-AS1 HGNC:28287 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit protein-coding gene gene with protein product Approved 1p21.3 01p21.3 MGC19780 "asparagine-linked glycosylation 14 homolog (yeast)|asparagine-linked glycosylation 14 homolog (S. cerevisiae)" UDP-N-acetylglucosaminyltransferase subunits 449 2005-08-09 2019-01-18 2023-01-20 199857 ENSG00000172339 OTTHUMG00000010781 uc001dra.3 NM_144988 CCDS752 Q96F25 "15615718|23404334" MGI:1914039 RGD:1312003 612866 330740 HGNC:28287 "ENST00000370205.6|NM_144988.4" HGNC:28287 HGNC:41192 ALG14-AS1 ALG14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Antisense RNAs 1987 2019-07-19 2019-07-19 101928098 ENSG00000230427 OTTHUMG00000010779 NR_132786 HGNC:41192 @@ -903,79 +903,79 @@ HGNC:17377 ALLC allantoicase protein-coding gene gene with protein product Appro HGNC:428 ALMS1 ALMS1 centrosome and basal body associated protein protein-coding gene gene with protein product Approved 2p13.1 02p13.1 KIAA0328 "Alstrom syndrome 1|Alstrom syndrome protein 1" 1998-10-12 2019-01-22 2023-01-20 7840 ENSG00000116127 OTTHUMG00000152812 uc032nrd.1 AB002326 NM_015120 CCDS42697 Q8TCU4 9063741 MGI:1934606 RGD:1311590 LRG_741|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_741.xml 606844 119632 HGNC:428 "ENST00000613296.6|NM_001378454.1" HGNC:428 HGNC:41305 ALMS1-IT1 ALMS1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p13.1 02p13.1 ALMS1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874291 ENSG00000230002 OTTHUMG00000152785 uc032nrh.2 BC041487 NR_046762 ALMS1-IT1 HGNC:41305 HGNC:29586 ALMS1P1 ALMS1 pseudogene 1 pseudogene pseudogene Approved 2p13.1 02p13.1 "ALMS1L|ALMS1P" "Alstrom syndrome 1-like|Alstrom syndrome 1 pseudogene|ALMS1, centrosome and basal body associated protein pseudogene 1" 2007-08-06 2015-12-02 2019-01-18 2023-03-15 200420 ENSG00000163016 OTTHUMG00000152773 BC014492 NR_003683 12477932 HGNC:29586 -HGNC:435 ALOX5 arachidonate 5-lipoxygenase protein-coding gene gene with protein product Approved 10q11.21 10q11.21 5-LOX Arachidonate lipoxygenases 407 1992-07-10 2023-01-20 240 ENSG00000012779 OTTHUMG00000018081 uc001jce.5 J03571 NM_000698 "CCDS7212|CCDS58078" P09917 2565035 MGI:87999 RGD:2096 152390 objectId:1385 1.13.11.34 HGNC:435 "ENST00000374391.7|NM_000698.5" -HGNC:436 ALOX5AP arachidonate 5-lipoxygenase activating protein protein-coding gene gene with protein product Approved 13q12.3 13q12.3 FLAP "five-lipoxygenase activating protein|MK-886-binding protein" arachidonate 5-lipoxygenase-activating protein 1997-10-10 2016-02-01 2023-01-20 241 ENSG00000132965 OTTHUMG00000016677 uc001utf.3 AH001462 NM_001629 "CCDS73558|CCDS9337" P20292 "1673682|10036194" MGI:107505 RGD:2097 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ALOX5AP 603700 ligandId:5183 HGNC:436 "ENST00000380490.5|NM_001629.4" +HGNC:435 ALOX5 arachidonate 5-lipoxygenase protein-coding gene gene with protein product Approved 10q11.21 10q11.21 5-LOX Arachidonate lipoxygenases 407 1992-07-10 2023-01-20 240 ENSG00000012779 OTTHUMG00000018081 uc001jce.5 J03571 NM_000698 "CCDS58078|CCDS7212" P09917 2565035 MGI:87999 RGD:2096 152390 objectId:1385 1.13.11.34 HGNC:435 "ENST00000374391.7|NM_000698.5" +HGNC:436 ALOX5AP arachidonate 5-lipoxygenase activating protein protein-coding gene gene with protein product Approved 13q12.3 13q12.3 FLAP "five-lipoxygenase activating protein|MK-886-binding protein" arachidonate 5-lipoxygenase-activating protein 1997-10-10 2016-02-01 2023-01-20 241 ENSG00000132965 OTTHUMG00000016677 uc001utf.3 AH001462 NM_001629 "CCDS9337|CCDS73558" P20292 "1673682|10036194" MGI:107505 RGD:2097 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ALOX5AP 603700 ligandId:5183 HGNC:436 "ENST00000380490.5|NM_001629.4" HGNC:429 ALOX12 arachidonate 12-lipoxygenase, 12S type protein-coding gene gene with protein product Approved 17p13.1 17p13.1 12S-LOX "platelet 12-LOX|Arachidonate 12-lipoxygenase, 12S-type" arachidonate 12-lipoxygenase Arachidonate lipoxygenases 407 1991-08-07 2016-05-05 2023-01-20 239 ENSG00000108839 OTTHUMG00000102088 uc002gdx.4 M35418 NM_000697 CCDS11084 P18054 1570320 MGI:87998 RGD:1311159 152391 objectId:1387 1.13.11.31 HGNC:429 "ENST00000251535.11|NM_000697.3" HGNC:51342 ALOX12-AS1 ALOX12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.1 17p13.1 Antisense RNAs 1987 2014-10-10 2014-10-10 100506713 ENSG00000215067 OTTHUMG00000132903 AK074580 NR_040089 HGNC:51342 HGNC:430 ALOX12B arachidonate 12-lipoxygenase, 12R type protein-coding gene gene with protein product Approved 17p13.1 17p13.1 12R-LOX 12R-lipoxygenase Arachidonate lipoxygenases 407 1998-07-22 2023-01-20 242 ENSG00000179477 OTTHUMG00000108180 uc002gjy.1 AF038461 NM_001139 CCDS11129 O75342 9618483 MGI:1274782 RGD:1305330 LRG_1264|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1264.xml 603741 119635 objectId:1386 1.13.11.31 HGNC:430 "ENST00000647874.1|NM_001139.3" HGNC:430 HGNC:431 ALOX12P1 arachidonate 12-lipoxygenase pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 ALOX12P 1992-11-20 2015-09-21 243 ENSG00000264958 OTTHUMG00000178853 M87004 NG_000844 1570320 PGOHUM00000294377 HGNC:431 HGNC:432 ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 pseudogene pseudogene Approved 17p13.1 17p13.1 1998-08-26 2014-11-18 245 ENSG00000262943 OTTHUMG00000177324 AF020774 NR_002710 9691181 PGOHUM00000237213 HGNC:432 HGNC:433 ALOX15 arachidonate 15-lipoxygenase protein-coding gene gene with protein product Approved 17p13.2 17p13.2 15-LOX-1 Arachidonate lipoxygenases 407 1992-11-20 2023-01-20 246 ENSG00000161905 OTTHUMG00000090746 uc010vse.3 M23892 NM_001140 CCDS11049 P16050 1570320 MGI:87997 RGD:70493 152392 objectId:1388 1.13.11.33 HGNC:433 "ENST00000293761.8|NM_001140.5" HGNC:433 -HGNC:434 ALOX15B arachidonate 15-lipoxygenase type B protein-coding gene gene with protein product Approved 17p13.1 17p13.1 15-LOX-2 arachidonate 15-lipoxygenase, second type Arachidonate lipoxygenases 407 1998-07-22 2019-01-18 2023-01-20 247 ENSG00000179593 OTTHUMG00000108181 uc002gju.4 U78294 NM_001039130 "CCDS32558|CCDS32559|CCDS11128" O15296 9177185 MGI:1098228 RGD:628809 603697 objectId:1389 1.13.11.33 HGNC:434 "ENST00000380183.9|NM_001141.3" +HGNC:434 ALOX15B arachidonate 15-lipoxygenase type B protein-coding gene gene with protein product Approved 17p13.1 17p13.1 15-LOX-2 arachidonate 15-lipoxygenase, second type Arachidonate lipoxygenases 407 1998-07-22 2019-01-18 2023-01-20 247 ENSG00000179593 OTTHUMG00000108181 uc002gju.4 U78294 NM_001039130 "CCDS32559|CCDS11128|CCDS32558" O15296 9177185 MGI:1098228 RGD:628809 603697 objectId:1389 1.13.11.33 HGNC:434 "ENST00000380183.9|NM_001141.3" HGNC:13742 ALOX15P1 arachidonate 15-lipoxygenase pseudogene 1 pseudogene pseudogene Approved 17p13.1 17p13.1 ALOX15P arachidonate 15-lipoxygenase pseudogene 2000-11-29 2010-09-24 2010-09-24 2020-04-20 100652883 ENSG00000274114 OTTHUMG00000187904 NR_045985 PGOHUM00000237211 HGNC:13742 HGNC:39027 ALOX15P2 arachidonate 15-lipoxygenase pseudogene 2 pseudogene pseudogene Approved 9q22.31 09q22.31 2010-09-24 2014-11-19 642959 ENSG00000188101 OTTHUMG00000020239 NG_028727 PGOHUM00000236709 HGNC:39027 HGNC:13743 ALOXE3 arachidonate lipoxygenase 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "eLOX3|E-LOX" "Epidermal lipoxygenase-3|hydroperoxide isomerase" Arachidonate lipoxygenases 407 2000-11-29 2023-03-15 59344 ENSG00000179148 OTTHUMG00000108179 uc010cnr.4 AJ269499 NM_001165960 CCDS11130 Q9BYJ1 12881489 MGI:1345140 RGD:1306252 607206 119637 objectId:1390 1.13.11.- HGNC:13743 "ENST00000448843.7|NM_021628.3" HGNC:13743 HGNC:44238 ALOXE3P1 arachidonate lipoxygenase 3 pseudogene 1 pseudogene pseudogene Approved 17p13.1 17p13.1 2012-07-23 2020-04-07 100420216 ENSG00000275011 OTTHUMG00000187905 NG_026215 PGOHUM00000237219 HGNC:44238 HGNC:441 ALPG alkaline phosphatase, germ cell protein-coding gene gene with protein product Approved 2q37.1 02q37.1 GCAP germ cell alkaline phosphatase ALPPL2 alkaline phosphatase, placental like 2 Alkaline phosphatases 1072 1990-07-06 2018-04-16 2018-04-16 2023-01-20 251 ENSG00000163286 OTTHUMG00000133257 uc002vss.5 J04948 NM_031313 CCDS2491 P10696 "MGI:108009|MGI:1924018|MGI:87984" RGD:1565100 171810 HGNC:441 "ENST00000295453.8|NM_031313.3" HGNC:437 ALPI alkaline phosphatase, intestinal protein-coding gene gene with protein product Approved 2q37.1 02q37.1 IAP intestinal alkaline phosphatase Alkaline phosphatases 1072 1986-01-01 2023-01-20 248 ENSG00000163295 OTTHUMG00000133258 uc002vst.4 M15694 NM_001631 CCDS2492 P09923 "3468508|3469665" "MGI:87984|MGI:108009|MGI:1924018" RGD:2099 171740 3.1.3.1 HGNC:437 "ENST00000295463.4|NM_001631.5" -HGNC:20917 ALPK1 alpha kinase 1 protein-coding gene gene with protein product Approved 4q25 04q25 "Lak|FLJ22670|KIAA1527" lymphocyte alpha-kinase 2004-12-01 2015-11-11 2023-01-20 80216 ENSG00000073331 OTTHUMG00000132911 uc003iap.5 AY044164 NM_025144 "CCDS3697|CCDS58923" Q96QP1 "10021370|10819331" MGI:1918731 RGD:1304613 607347 objectId:1930 HGNC:20917 "ENST00000650871.1|NM_025144.4" HGNC:20917 +HGNC:20917 ALPK1 alpha kinase 1 protein-coding gene gene with protein product Approved 4q25 04q25 "Lak|FLJ22670|KIAA1527" lymphocyte alpha-kinase 2004-12-01 2015-11-11 2023-01-20 80216 ENSG00000073331 OTTHUMG00000132911 uc003iap.5 AY044164 NM_025144 "CCDS58923|CCDS3697" Q96QP1 "10021370|10819331" MGI:1918731 RGD:1304613 607347 objectId:1930 HGNC:20917 "ENST00000650871.1|NM_025144.4" HGNC:20917 HGNC:20565 ALPK2 alpha kinase 2 protein-coding gene gene with protein product Approved 18q21.31-q21.32 18q21.31-q21.32 HAK heart alpha-kinase I-set domain containing 593 2004-12-01 2015-11-11 2023-01-20 115701 ENSG00000198796 OTTHUMG00000132755 uc002lhj.5 AY044450 NM_052947 CCDS11966 Q86TB3 10021370 MGI:2449492 RGD:1564431 619965 HGNC:20565 "ENST00000361673.4|NM_052947.4" HGNC:17574 ALPK3 alpha kinase 3 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "MAK|KIAA1330|Midori" "myocyte induction differentiation originator|muscle alpha-kinase" I-set domain containing 593 2004-12-01 2015-11-11 2023-01-20 57538 ENSG00000136383 OTTHUMG00000148667 uc002ble.3 AY044449 NM_020778 CCDS10333 Q96L96 10021370 MGI:2151224 RGD:1309860 617608 469942 objectId:1931 HGNC:17574 "ENST00000258888.6|NM_020778.5" HGNC:17574 -HGNC:438 ALPL alkaline phosphatase, biomineralization associated protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "TNSALP|TNALP|TNAP" tissue non-specific alkaline phosphatase HOPS alkaline phosphatase, liver/bone/kidney Alkaline phosphatases 1072 1986-01-01 2018-08-08 2023-01-20 249 ENSG00000162551 OTTHUMG00000002949 uc001bet.4 BC021289 NM_000478 "CCDS217|CCDS53274|CCDS53275" P05186 "3532105|3446011" MGI:87983 RGD:2100 Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database|http://www.sesep.uvsq.fr/Database.html 171760 119640 3.1.3.1 HGNC:438 "ENST00000374840.8|NM_000478.6" HGNC:438 +HGNC:438 ALPL alkaline phosphatase, biomineralization associated protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "TNSALP|TNALP|TNAP" tissue non-specific alkaline phosphatase HOPS alkaline phosphatase, liver/bone/kidney Alkaline phosphatases 1072 1986-01-01 2018-08-08 2023-01-20 249 ENSG00000162551 OTTHUMG00000002949 uc001bet.4 BC021289 NM_000478 "CCDS53275|CCDS53274|CCDS217" P05186 "3532105|3446011" MGI:87983 RGD:2100 Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database|http://www.sesep.uvsq.fr/Database.html 171760 119640 3.1.3.1 HGNC:438 "ENST00000374840.8|NM_000478.6" HGNC:438 HGNC:439 ALPP alkaline phosphatase, placental protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "PALP|PLAP" "Regan isozyme|placental alkaline phosphatase" alkaline phosphatase, placental (Regan isozyme) Alkaline phosphatases 1072 1986-01-01 2010-06-24 2023-01-20 250 ENSG00000163283 OTTHUMG00000133255 uc002vsq.4 M14169 NM_001632 CCDS2490 P05187 "3001717|3461452" MGI:1924018 RGD:2325055 171800 3.1.3.1 HGNC:439 "ENST00000392027.3|NM_001632.5" HGNC:14016 ALPPP alkaline phosphatase, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2002-08-30 2004-11-26 260330 AF307337 11352565 -HGNC:443 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 alsin ALS2CR6 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6|amyotrophic lateral sclerosis 2 (juvenile)" "Dbl family Rho GEFs|VPS9 domain containing" "722|928" 1992-11-19 2019-01-21 2023-01-20 57679 ENSG00000003393 OTTHUMG00000154507 uc002uyo.4 AB053305 NM_020919 "CCDS46492|CCDS92925|CCDS42800" Q96Q42 11586298 MGI:1921268 RGD:1310372 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_654|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_654.xml" 606352 119644 HGNC:443 "ENST00000264276.11|NM_020919.4" HGNC:443 +HGNC:443 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 alsin ALS2CR6 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6|amyotrophic lateral sclerosis 2 (juvenile)" "Dbl family Rho GEFs|VPS9 domain containing" "722|928" 1992-11-19 2019-01-21 2023-01-20 57679 ENSG00000003393 OTTHUMG00000154507 uc002uyo.4 AB053305 NM_020919 "CCDS46492|CCDS42800|CCDS92925" Q96Q42 11586298 MGI:1921268 RGD:1310372 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_654|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_654.xml" 606352 119644 HGNC:443 "ENST00000264276.11|NM_020919.4" HGNC:443 HGNC:20605 ALS2CL ALS2 C-terminal like protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ36525|RN49018|DKFZp686I0110" "Dbl family Rho GEFs|VPS9 domain containing" "722|928" 2003-03-05 2023-03-15 259173 ENSG00000178038 OTTHUMG00000128673 uc003cqb.3 AK074118 NM_147129 CCDS2743 Q60I27 "15388334|8889548|17239822" MGI:2447532 RGD:1305208 612402 HGNC:20605 "ENST00000318962.9|NM_147129.5" HGNC:1494 ALX1 ALX homeobox 1 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 CART1 cartilage paired-class homeoprotein 1 PRD class homeoboxes and pseudogenes 521 1999-08-26 2007-07-26 2007-07-26 2023-01-20 8092 ENSG00000180318 OTTHUMG00000169820 uc001tae.5 U31986 NM_006982 CCDS9028 Q15699 "8756334|7592751" MGI:104621 RGD:2273 601527 8553 311114 HGNC:1494 "ENST00000316824.4|NM_006982.3" HGNC:1494 HGNC:449 ALX3 ALX homeobox 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 FND "aristaless-like homeobox 3|frontonasal dysplasia" PRD class homeoboxes and pseudogenes 521 1998-04-08 2008-11-04 2023-01-20 257 ENSG00000156150 OTTHUMG00000011650 uc001dzb.4 AF008203 NM_006492 CCDS819 O95076 "15226305|11807986|19409524" MGI:1277097 RGD:1359270 LRG_1265|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1265.xml 606014 8416 189330 HGNC:449 "ENST00000647563.2|NM_006492.3" HGNC:449 HGNC:450 ALX4 ALX homeobox 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FPP|PFM|KIAA1788" PFM2 "parietal foramina 2|aristaless-like homeobox 4" PRD class homeoboxes and pseudogenes 521 2000-06-15 2008-11-04 2023-01-20 60529 ENSG00000052850 OTTHUMG00000166557 uc001myb.4 AF294629 NM_021926 CCDS31468 Q9H161 "11017806|8644736" MGI:108359 RGD:1310201 LRG_1256|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1256.xml 605420 8417 119647 HGNC:450 "ENST00000652299.1|NM_021926.4" HGNC:450 HGNC:19071 ALYREF Aly/REF export factor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "ALY|BEF|ALY/REF|REF" THO complex subunit 4 THOC4 THO complex 4 "RNA binding motif containing|THO complex" "725|770" 2002-12-09 2011-12-12 2011-12-12 2023-01-20 10189 ENSG00000183684 OTTHUMG00000160470 uc002kbu.3 AF047002 NM_005782 CCDS32768 Q86V81 "11032328|15998806" MGI:1341044 RGD:1594679 604171 HGNC:19071 "ENST00000505490.3|NM_005782.4" -HGNC:451 AMACR alpha-methylacyl-CoA racemase protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "RACE|P504S" 1999-10-19 2023-01-20 23600 ENSG00000242110 OTTHUMG00000090734 uc003jig.4 AF047020 NM_014324 "CCDS3903|CCDS3902|CCDS54836" Q9UHK6 9307041 MGI:1098273 RGD:3048 604489 159633 5.1.99.4 HGNC:451 "ENST00000335606.11|NM_014324.6" HGNC:451 -HGNC:452 AMBN ameloblastin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 enamel matrix protein "ameloblastin, enamel matrix protein|ameloblastin (enamel matrix protein)" 1997-01-08 2015-11-09 2023-01-20 258 ENSG00000178522 OTTHUMG00000129913 uc003hfl.4 AF209780 NM_016519 CCDS3543 Q9NP70 9126491 MGI:104655 RGD:2101 601259 412643 HGNC:452 "ENST00000322937.10|NM_016519.6" HGNC:452 +HGNC:451 AMACR alpha-methylacyl-CoA racemase protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "RACE|P504S" 1999-10-19 2023-01-20 23600 ENSG00000242110 OTTHUMG00000090734 uc003jig.4 AF047020 NM_014324 "CCDS3903|CCDS54836|CCDS3902" Q9UHK6 9307041 MGI:1098273 RGD:3048 604489 159633 5.1.99.4 HGNC:451 "ENST00000335606.11|NM_014324.6" HGNC:451 +HGNC:452 AMBN ameloblastin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 enamel matrix protein "ameloblastin, enamel matrix protein|ameloblastin (enamel matrix protein)" Secretory calcium-binding phosphoprotein family 2245 1997-01-08 2015-11-09 2023-01-20 258 ENSG00000178522 OTTHUMG00000129913 uc003hfl.4 AF209780 NM_016519 CCDS3543 Q9NP70 9126491 MGI:104655 RGD:2101 601259 412643 HGNC:452 "ENST00000322937.10|NM_016519.6" HGNC:452 HGNC:453 AMBP alpha-1-microglobulin/bikunin precursor protein-coding gene gene with protein product Approved 9q32 09q32 "UTI|HCP|EDC1|HI30|IATIL|ITILC" "growth-inhibiting protein 19|uristatin|complex-forming glycoprotein heterogeneous in charge|bikunin|inter-alpha-trypsin inhibitor light chain|protein HC|uronic-acid-rich protein|trypstatin" "ITI|ITIL" Lipocalins 631 1986-01-01 2023-01-20 259 ENSG00000106927 OTTHUMG00000020534 uc004bie.5 X04494 NM_001633 CCDS6800 P02760 "1708673|1385302" MGI:88002 RGD:2102 176870 LI02-001 ligandId:10359 HGNC:453 "ENST00000265132.8|NM_001633.4" -HGNC:25990 AMBRA1 autophagy and beclin 1 regulator 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ20294|KIAA1736|WDR94|DCAF3" "WD repeat domain 94|DDB1 and CUL4 associated factor 3" autophagy/beclin-1 regulator 1 "WD repeat domain containing|DDB1 and CUL4 associated factors|MicroRNA protein coding host genes" "362|498|1691" 2008-02-01 2016-04-28 2023-01-20 55626 ENSG00000110497 OTTHUMG00000166500 uc001ncu.3 AB051523 NM_017749 "CCDS73281|CCDS58132|CCDS31475|CCDS91466" Q9C0C7 "17622796|17603510|17589504" MGI:2443564 RGD:621330 611359 HGNC:25990 "ENST00000683756.1|NM_001387011.1" -HGNC:457 AMD1 adenosylmethionine decarboxylase 1 protein-coding gene gene with protein product Approved 6q21 06q21 SAMDC S-adenosylmethionine decarboxylase 1 1990-07-03 2023-03-15 262 ENSG00000123505 OTTHUMG00000015369 uc011eay.3 M88006 NM_001287214 "CCDS75504|CCDS75505|CCDS5086" P17707 MGI:88004 RGD:2104 180980 objectId:1269 4.1.1.50 HGNC:457 "ENST00000368885.8|NM_001634.6" +HGNC:25990 AMBRA1 autophagy and beclin 1 regulator 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ20294|KIAA1736|WDR94|DCAF3" "WD repeat domain 94|DDB1 and CUL4 associated factor 3" autophagy/beclin-1 regulator 1 "WD repeat domain containing|DDB1 and CUL4 associated factors|MicroRNA protein coding host genes" "362|498|1691" 2008-02-01 2016-04-28 2023-01-20 55626 ENSG00000110497 OTTHUMG00000166500 uc001ncu.3 AB051523 NM_017749 "CCDS91466|CCDS73281|CCDS58132|CCDS31475" Q9C0C7 "17622796|17603510|17589504" MGI:2443564 RGD:621330 611359 HGNC:25990 "ENST00000683756.1|NM_001387011.1" +HGNC:457 AMD1 adenosylmethionine decarboxylase 1 protein-coding gene gene with protein product Approved 6q21 06q21 SAMDC S-adenosylmethionine decarboxylase 1 1990-07-03 2023-03-15 262 ENSG00000123505 OTTHUMG00000015369 uc011eay.3 M88006 NM_001287214 "CCDS75504|CCDS5086|CCDS75505" P17707 MGI:88004 RGD:2104 180980 objectId:1269 4.1.1.50 HGNC:457 "ENST00000368885.8|NM_001634.6" HGNC:44898 AMD1P1 adenosylmethionine decarboxylase 1 pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p12.31 2012-12-12 2015-03-19 100133024 ENSG00000228339 OTTHUMG00000017782 NG_022164 PGOHUM00000290056 HGNC:44898 HGNC:460 AMD1P2 adenosylmethionine decarboxylase 1 pseudogene 2 pseudogene pseudogene Approved Xq28 and Yq12 Xq28 and Yq12 "AMDPX|AMDPY" "AMD2|AMD|AMDP1" "S-adenosylmethionine decarboxylase pseudogene 1|adenosylmethionine decarboxylase pseudogene 1" Pseudoautosomal region 2 716 1988-08-31 2015-03-19 2015-03-19 2015-03-19 263 ENSG00000237801 OTTHUMG00000022673 U02035 NG_001073 7789170 PGOHUM00000304924 HGNC:460 HGNC:51608 AMD1P3 adenosylmethionine decarboxylase 1 pseudogene 3 pseudogene pseudogene Approved 5p12 05p12 2015-03-19 2015-03-19 728931 ENSG00000249286 OTTHUMG00000162224 NG_023359 PGOHUM00000300576 HGNC:51608 HGNC:51609 AMD1P4 adenosylmethionine decarboxylase 1 pseudogene 4 pseudogene pseudogene Approved 6p24.1 06p24.1 2015-03-19 2015-03-19 100129761 ENSG00000215124 OTTHUMG00000014262 NG_022294 PGOHUM00000301255 HGNC:51609 HGNC:28577 AMDHD1 amidohydrolase domain containing 1 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 MGC35366 M38 metallopeptidases 1446 2006-01-17 2023-01-20 144193 ENSG00000139344 OTTHUMG00000170353 uc001tel.3 AB075878 NM_152435 CCDS9057 Q96NU7 MGI:1919011 RGD:1308879 M38.980 3.5.2.7 HGNC:28577 "ENST00000266736.7|NM_152435.3" -HGNC:24262 AMDHD2 amidohydrolase domain containing 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 CGI-14 N-acetylglucosamine-6-phosphate deacetylase 2006-02-20 2023-01-20 51005 ENSG00000162066 OTTHUMG00000128866 uc002cqq.4 AF132948 NM_015944 "CCDS53984|CCDS81936|CCDS92088|CCDS10471" Q9Y303 10810093 MGI:2443978 RGD:1304601 3.5.1.25 HGNC:24262 "ENST00000293971.11|NM_001330449.2" -HGNC:461 AMELX amelogenin X-linked protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 amelogenesis imperfecta 1 "AMG|AIH1" amelogenin (X chromosome, amelogenesis imperfecta 1) 1988-05-11 2018-04-26 2023-01-20 265 ENSG00000125363 OTTHUMG00000021130 uc004cut.3 NM_001142 "CCDS14145|CCDS14146|CCDS14144" Q99217 1734713 MGI:88005 RGD:2107 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AMELX 300391 119653 HGNC:461 "ENST00000380714.7|NM_001142.2" HGNC:461 -HGNC:462 AMELY amelogenin Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 AMGL amelogenin (Y chromosome) 1988-08-31 2018-04-26 2023-01-20 266 ENSG00000099721 OTTHUMG00000035297 uc004fqz.3 M86933 NM_001143 "CCDS94708|CCDS14778" Q99218 2004775 MGI:88005 410000 HGNC:462 "ENST00000651267.2|NM_001143.2" +HGNC:24262 AMDHD2 amidohydrolase domain containing 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 CGI-14 N-acetylglucosamine-6-phosphate deacetylase 2006-02-20 2023-01-20 51005 ENSG00000162066 OTTHUMG00000128866 uc002cqq.4 AF132948 NM_015944 "CCDS92088|CCDS10471|CCDS53984|CCDS81936" Q9Y303 10810093 MGI:2443978 RGD:1304601 3.5.1.25 HGNC:24262 "ENST00000293971.11|NM_001330449.2" +HGNC:461 AMELX amelogenin X-linked protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 amelogenesis imperfecta 1 "AMG|AIH1" amelogenin (X chromosome, amelogenesis imperfecta 1) Secretory calcium-binding phosphoprotein family 2245 1988-05-11 2018-04-26 2023-01-20 265 ENSG00000125363 OTTHUMG00000021130 uc004cut.3 NM_001142 "CCDS14144|CCDS14145|CCDS14146" Q99217 1734713 MGI:88005 RGD:2107 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AMELX 300391 119653 HGNC:461 "ENST00000380714.7|NM_001142.2" HGNC:461 +HGNC:462 AMELY amelogenin Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 AMGL amelogenin (Y chromosome) Secretory calcium-binding phosphoprotein family 2245 1988-08-31 2018-04-26 2023-01-20 266 ENSG00000099721 OTTHUMG00000035297 uc004fqz.3 M86933 NM_001143 "CCDS14778|CCDS94708" Q99218 2004775 MGI:88005 410000 HGNC:462 "ENST00000651267.2|NM_001143.2" HGNC:26837 AMER1 APC membrane recruitment protein 1 protein-coding gene gene with protein product Approved Xq11.2 Xq11.2 "RP11-403E24.2|FLJ39827|WTX" "Wilms Tumor on the X|adenomatous polyposis coli membrane recruitment 1" FAM123B family with sequence similarity 123B APC membrane recruitment proteins 2002 2006-07-11 2012-12-03 2012-12-03 2023-01-20 139285 ENSG00000184675 OTTHUMG00000021703 uc004dvo.3 AK097146 NM_152424 CCDS14377 Q5JTC6 "21304492|21498506|20843316" MGI:1919595 RGD:1560322 LRG_1259|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1259.xml AMER1 300647 173515 HGNC:26837 "ENST00000374869.8|NM_152424.4" HGNC:26837 HGNC:26360 AMER2 APC membrane recruitment protein 2 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 FLJ25477 FAM123A family with sequence similarity 123A APC membrane recruitment proteins 2002 2006-07-11 2012-12-03 2012-12-03 2023-01-20 219287 ENSG00000165566 OTTHUMG00000016602 uc001uqc.5 AK055049 NM_152704 "CCDS9312|CCDS53859" Q8N7J2 20843316 MGI:1919375 RGD:1559605 614659 HGNC:26360 "ENST00000515384.2|NM_152704.4" HGNC:26771 AMER3 APC membrane recruitment protein 3 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 FLJ38377 FAM123C family with sequence similarity 123C APC membrane recruitment proteins 2002 2007-08-16 2012-12-03 2012-12-03 2023-01-20 205147 ENSG00000178171 OTTHUMG00000131637 uc010fmt.1 AK095696 NM_152698 CCDS2164 Q8N944 20843316 MGI:3026939 RGD:1560420 HGNC:26771 "ENST00000321420.5|NM_152698.3" HGNC:463 AMFR autocrine motility factor receptor protein-coding gene gene with protein product Approved 16q13 16q13 "RNF45|gp78" Ring finger proteins 58 1994-01-10 2016-03-17 2023-03-15 267 ENSG00000159461 OTTHUMG00000133239 uc002eiy.4 L35233 NM_001144 CCDS10758 Q9UKV5 1649192 MGI:1345634 RGD:1311551 603243 HGNC:463 "ENST00000290649.10|NM_001144.6" HGNC:464 AMH anti-Mullerian hormone protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MIF|MIS" "Muellerian-inhibiting factor|Muellerian-inhibiting substance" "Receptor ligands|MicroRNA protein coding host genes|Transforming growth factor beta superfamily" "542|1691|1932" 1986-01-01 2023-01-20 268 ENSG00000104899 OTTHUMG00000180415 uc002lvh.3 K03474 NM_000479 CCDS12085 P03971 "3754790|18784351" MGI:88006 RGD:2108 600957 119657 ligandId:6686 HGNC:464 "ENST00000221496.5|NM_000479.5" HGNC:464 -HGNC:465 AMHR2 anti-Mullerian hormone receptor type 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MISR2|MISRII" Muellerian inhibiting substance type II receptor anti-Mullerian hormone receptor type II Type 2 receptor serine/threonine kinases 346 1997-07-22 2016-04-27 2023-01-20 269 ENSG00000135409 OTTHUMG00000170048 uc001scx.2 AF172932 NM_020547 "CCDS55829|CCDS53798|CCDS8858" Q16671 7493017 MGI:105062 RGD:70964 600956 119660 objectId:1793 HGNC:465 "ENST00000257863.9|NM_020547.3" HGNC:465 +HGNC:465 AMHR2 anti-Mullerian hormone receptor type 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MISR2|MISRII" Muellerian inhibiting substance type II receptor anti-Mullerian hormone receptor type II Type 2 receptor serine/threonine kinases 346 1997-07-22 2016-04-27 2023-01-20 269 ENSG00000135409 OTTHUMG00000170048 uc001scx.2 AF172932 NM_020547 "CCDS8858|CCDS55829|CCDS53798" Q16671 7493017 MGI:105062 RGD:70964 600956 119660 objectId:1793 HGNC:465 "ENST00000257863.9|NM_020547.3" HGNC:465 HGNC:20824 AMIGO1 adhesion molecule with Ig like domain 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "AMIGO|KIAA1163" amphoterin-induced gene and open reading frame V-set domain containing 590 2005-06-23 2016-07-04 2023-01-20 57463 ENSG00000181754 OTTHUMG00000011653 uc001dxx.5 NM_020703 CCDS30795 Q86WK6 12629050 MGI:2653612 RGD:1303079 615689 HGNC:20824 "ENST00000369864.5|NM_020703.4" HGNC:24073 AMIGO2 adhesion molecule with Ig like domain 2 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "ALI1|DEGA" amphoterin-induced gene and open reading frame 2 Immunoglobulin like domain containing 594 2005-06-23 2016-07-04 2023-01-20 347902 ENSG00000139211 OTTHUMG00000169616 uc001rpk.4 NM_181847 CCDS8751 Q86SJ2 "12629050|12843293|15107827" MGI:2145995 RGD:727911 615690 HGNC:24073 "ENST00000550413.2|NM_001370299.1" HGNC:24073 HGNC:24075 AMIGO3 adhesion molecule with Ig like domain 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 amphoterin-induced gene and open reading frame 3 Immunoglobulin like domain containing 594 2005-06-23 2016-07-04 2023-01-20 386724 ENSG00000176020 OTTHUMG00000158152 uc003cxj.4 NM_198722 CCDS33759 Q86WK7 "12629050|12975309" MGI:2444854 RGD:631413 615691 HGNC:24075 "ENST00000320431.8|NM_198722.3" HGNC:466 AMLCR2 acute myeloid leukemia chromosome region 2 other region Approved 16q22 16q22 1999-12-15 2010-04-15 9163 9382098 -HGNC:467 AMMECR1 AMMECR nuclear protein 1 protein-coding gene gene with protein product Approved Xq23 Xq23 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 Small nucleolar RNA protein coding host genes 1835 1998-06-22 2019-08-22 2023-01-20 9949 ENSG00000101935 OTTHUMG00000022197 uc004eoo.4 AJ007014 NM_001025580 "CCDS14551|CCDS55476|CCDS35368" Q9Y4X0 "10049589|9480748|24646681" MGI:1860206 RGD:1561004 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AMMECR1 300195 119662 HGNC:467 "ENST00000262844.10|NM_015365.3" HGNC:467 +HGNC:467 AMMECR1 AMMECR nuclear protein 1 protein-coding gene gene with protein product Approved Xq23 Xq23 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 Small nucleolar RNA protein coding host genes 1835 1998-06-22 2019-08-22 2023-01-20 9949 ENSG00000101935 OTTHUMG00000022197 uc004eoo.4 AJ007014 NM_001025580 "CCDS35368|CCDS55476|CCDS14551" Q9Y4X0 "10049589|9480748|24646681" MGI:1860206 RGD:1561004 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AMMECR1 300195 119662 HGNC:467 "ENST00000262844.10|NM_015365.3" HGNC:467 HGNC:41306 AMMECR1-IT1 AMMECR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xq23 Xq23 AMMECR1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874352 ENSG00000224142 OTTHUMG00000022194 uc065ars.1 AMMECR1-IT1 -HGNC:28658 AMMECR1L AMMECR1 like protein-coding gene gene with protein product Approved 2q14.3 02q14.3 MGC4268 "AMME chromosomal region gene 1-like|AMMECR1-like" 2007-01-26 2015-11-06 2023-01-20 83607 ENSG00000144233 OTTHUMG00000131535 uc002tpm.5 NM_031445 "CCDS2152|CCDS92863|CCDS92865" Q6DCA0 MGI:2442711 RGD:1307915 HGNC:28658 "ENST00000272647.10|NM_001199140.2" +HGNC:28658 AMMECR1L AMMECR1 like protein-coding gene gene with protein product Approved 2q14.3 02q14.3 MGC4268 "AMME chromosomal region gene 1-like|AMMECR1-like" 2007-01-26 2015-11-06 2023-01-20 83607 ENSG00000144233 OTTHUMG00000131535 uc002tpm.5 NM_031445 "CCDS92865|CCDS92863|CCDS2152" Q6DCA0 MGI:2442711 RGD:1307915 HGNC:28658 "ENST00000272647.10|NM_001199140.2" HGNC:39809 AMMECR1LP1 AMMECR1 like pseudogene 1 pseudogene pseudogene Approved 13q32.1 13q32.1 "AMME chromosomal region gene 1-like pseudogene 1|AMMECR1-like pseudogene 1" 2011-03-29 2015-11-11 2015-11-11 100420921 ENSG00000233273 OTTHUMG00000017231 NG_024945 PGOHUM00000248667 HGNC:39809 HGNC:14604 AMN amnion associated transmembrane protein protein-coding gene gene with protein product Approved 14q32.32 14q32.32 amnionless amnionless homolog (mouse) 2002-12-03 2012-12-07 2023-01-20 81693 ENSG00000166126 OTTHUMG00000171897 uc001ymg.5 AF328788 NM_030943 CCDS9977 Q9BXJ7 11279523 MGI:1934943 RGD:1308634 LRG_642|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_642.xml 605799 138568 HGNC:14604 "ENST00000299155.10|NM_030943.4" HGNC:14604 -HGNC:27281 AMN1 antagonist of mitotic exit network 1 homolog protein-coding gene gene with protein product Approved 12p11.21 12p11.21 antagonist of mitotic exit network 1 homolog (S. cerevisiae) 2006-11-06 2015-07-02 2023-01-20 196394 ENSG00000151743 OTTHUMG00000169192 uc001rkq.4 NM_001113402 "CCDS44858|CCDS61089" Q8IY45 30273335 MGI:2442933 RGD:1308119 HGNC:27281 "ENST00000281471.11|NM_001113402.2" +HGNC:27281 AMN1 antagonist of mitotic exit network 1 homolog protein-coding gene gene with protein product Approved 12p11.21 12p11.21 antagonist of mitotic exit network 1 homolog (S. cerevisiae) 2006-11-06 2015-07-02 2023-01-20 196394 ENSG00000151743 OTTHUMG00000169192 uc001rkq.4 NM_001113402 "CCDS61089|CCDS44858" Q8IY45 30273335 MGI:2442933 RGD:1308119 HGNC:27281 "ENST00000281471.11|NM_001113402.2" HGNC:17810 AMOT angiomotin protein-coding gene gene with protein product Approved Xq23 Xq23 KIAA1071 MicroRNA protein coding host genes 1691 2002-01-24 2023-01-20 154796 ENSG00000126016 OTTHUMG00000022216 uc004eps.4 AB028994 NM_133265 "CCDS48154|CCDS14563" Q4VCS5 "11257124|16043488|12406577" MGI:108440 RGD:1564027 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AMOT 300410 HGNC:17810 "ENST00000371959.9|NM_001113490.2" HGNC:17811 AMOTL1 angiomotin like 1 protein-coding gene gene with protein product Approved 11q21 11q21 JEAP junction-enriched and associated protein 2002-01-24 2023-01-20 154810 ENSG00000166025 OTTHUMG00000167828 uc001pfb.4 AF453742 NM_130847 "CCDS73368|CCDS44712" Q8IY63 11733531 MGI:1922973 RGD:1305268 614657 HGNC:17811 "ENST00000433060.3|NM_130847.3" -HGNC:17812 AMOTL2 angiomotin like 2 protein-coding gene gene with protein product Approved 3q22.2 03q22.2 LCCP "Leman coiled-coil protein|angiomotin-like protein 2" MicroRNA protein coding host genes 1691 2002-01-24 2023-01-20 51421 ENSG00000114019 OTTHUMG00000159777 uc003eqg.3 AF175966 NM_016201 "CCDS33860|CCDS63784|CCDS63783|CCDS87138" Q9Y2J4 MGI:1929286 RGD:70977 614658 HGNC:17812 "ENST00000249883.10|NM_016201.4" -HGNC:468 AMPD1 adenosine monophosphate deaminase 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "MAD|MADA" "AMPD isoform M|skeletal muscle AMPD|myoadenylate deaminase" adenosine monophosphate deaminase 1 (isoform M) Adenosine deaminase family 1302 1989-05-19 2010-02-10 2023-01-20 270 ENSG00000116748 OTTHUMG00000011892 uc001efe.3 M60092 NM_000036 "CCDS53349|CCDS876" P23109 "1400401|1631143" MGI:88015 RGD:2109 102770 121344 3.5.4.6 HGNC:468 "ENST00000520113.7|NM_000036.3" HGNC:468 -HGNC:469 AMPD2 adenosine monophosphate deaminase 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 SPG63 AMPD isoform L adenosine monophosphate deaminase 2 (isoform L) Adenosine deaminase family 1302 1990-03-06 2010-02-10 2023-03-15 271 ENSG00000116337 OTTHUMG00000011649 uc001dyc.3 S47833 NM_001257361 "CCDS805|CCDS804|CCDS58016" Q01433 "1400401|24482476" MGI:88016 RGD:2110 102771 376557 3.5.4.6 HGNC:469 "ENST00000528667.7|NM_001368809.2" HGNC:469 -HGNC:470 AMPD3 adenosine monophosphate deaminase 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 erythrocyte-specific AMP deaminase adenosine monophosphate deaminase (isoform E) Adenosine deaminase family 1302 1993-02-17 2010-02-10 2023-01-20 272 ENSG00000133805 OTTHUMG00000165682 uc001mio.2 M84722 NM_000480 "CCDS53601|CCDS7802|CCDS41617|CCDS44537" Q01432 1400401 MGI:1096344 RGD:2111 102772 121350 3.5.4.6 HGNC:470 "ENST00000396553.7|NM_001025389.2" HGNC:470 +HGNC:17812 AMOTL2 angiomotin like 2 protein-coding gene gene with protein product Approved 3q22.2 03q22.2 LCCP "Leman coiled-coil protein|angiomotin-like protein 2" MicroRNA protein coding host genes 1691 2002-01-24 2023-01-20 51421 ENSG00000114019 OTTHUMG00000159777 uc003eqg.3 AF175966 NM_016201 "CCDS33860|CCDS87138|CCDS63784|CCDS63783" Q9Y2J4 MGI:1929286 RGD:70977 614658 HGNC:17812 "ENST00000249883.10|NM_016201.4" +HGNC:468 AMPD1 adenosine monophosphate deaminase 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "MAD|MADA" "AMPD isoform M|skeletal muscle AMPD|myoadenylate deaminase" adenosine monophosphate deaminase 1 (isoform M) Adenosine deaminase family 1302 1989-05-19 2010-02-10 2023-01-20 270 ENSG00000116748 OTTHUMG00000011892 uc001efe.3 M60092 NM_000036 "CCDS876|CCDS53349" P23109 "1400401|1631143" MGI:88015 RGD:2109 102770 121344 3.5.4.6 HGNC:468 "ENST00000520113.7|NM_000036.3" HGNC:468 +HGNC:469 AMPD2 adenosine monophosphate deaminase 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 SPG63 AMPD isoform L adenosine monophosphate deaminase 2 (isoform L) Adenosine deaminase family 1302 1990-03-06 2010-02-10 2023-03-15 271 ENSG00000116337 OTTHUMG00000011649 uc001dyc.3 S47833 NM_001257361 "CCDS805|CCDS58016|CCDS804" Q01433 "1400401|24482476" MGI:88016 RGD:2110 102771 376557 3.5.4.6 HGNC:469 "ENST00000528667.7|NM_001368809.2" HGNC:469 +HGNC:470 AMPD3 adenosine monophosphate deaminase 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 erythrocyte-specific AMP deaminase adenosine monophosphate deaminase (isoform E) Adenosine deaminase family 1302 1993-02-17 2010-02-10 2023-01-20 272 ENSG00000133805 OTTHUMG00000165682 uc001mio.2 M84722 NM_000480 "CCDS41617|CCDS53601|CCDS44537|CCDS7802" Q01432 1400401 MGI:1096344 RGD:2111 102772 121350 3.5.4.6 HGNC:470 "ENST00000396553.7|NM_001025389.2" HGNC:470 HGNC:471 AMPH amphiphysin protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)|amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)" N-BAR domain containing 1289 1994-12-12 2007-06-19 2023-01-20 273 ENSG00000078053 OTTHUMG00000023725 uc003tgu.4 NM_001635 "CCDS47574|CCDS5456" P49418 8245793 MGI:103574 RGD:620274 600418 HGNC:471 "ENST00000356264.7|NM_001635.4" -HGNC:473 AMT aminomethyltransferase protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "GCST|NKH" "glycine cleavage system protein T|nonketotic hyperglycinemia" aminomethyltransferase (glycine cleavage system protein T) Methyltransferase families 1398 1992-04-08 2006-05-22 2023-01-20 275 ENSG00000145020 OTTHUMG00000156847 uc003cww.4 D13811 NM_000481 "CCDS2797|CCDS54584|CCDS54585|CCDS54583" P48728 "1993704|8188235" MGI:3646700 RGD:1359408 LRG_537|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_537.xml 238310 121352 2.1.2.10 HGNC:473 "ENST00000273588.9|NM_000481.4" HGNC:473 -HGNC:33188 AMTN amelotin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "UNQ689|RSTI689" 2006-12-06 2023-01-20 401138 ENSG00000187689 OTTHUMG00000129906 uc003hfk.3 AY358528 NM_212557 "CCDS3542|CCDS68716" Q6UX39 16304441 MGI:1918671 RGD:1592356 610912 HGNC:33188 "ENST00000339336.9|NM_212557.4" HGNC:33188 +HGNC:473 AMT aminomethyltransferase protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "GCST|NKH" "glycine cleavage system protein T|nonketotic hyperglycinemia" aminomethyltransferase (glycine cleavage system protein T) Methyltransferase families 1398 1992-04-08 2006-05-22 2023-01-20 275 ENSG00000145020 OTTHUMG00000156847 uc003cww.4 D13811 NM_000481 "CCDS54584|CCDS54583|CCDS2797|CCDS54585" P48728 "1993704|8188235" MGI:3646700 RGD:1359408 LRG_537|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_537.xml 238310 121352 2.1.2.10 HGNC:473 "ENST00000273588.9|NM_000481.4" HGNC:473 +HGNC:33188 AMTN amelotin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "UNQ689|RSTI689" Secretory calcium-binding phosphoprotein family 2245 2006-12-06 2023-01-20 401138 ENSG00000187689 OTTHUMG00000129906 uc003hfk.3 AY358528 NM_212557 "CCDS3542|CCDS68716" Q6UX39 16304441 MGI:1918671 RGD:1592356 610912 HGNC:33188 "ENST00000339336.9|NM_212557.4" HGNC:33188 HGNC:474 AMY1A amylase alpha 1A protein-coding gene gene with protein product Approved 1p21.1 01p21.1 AMY1 "amylase, alpha 1A; salivary|amylase alpha 1A (salivary)" Amylases alpha 1648 2001-06-22 2019-07-03 2023-01-20 276 ENSG00000237763 OTTHUMG00000011020 uc001duv.4 NM_001008221 CCDS30782 P0DUB6 "MGI:104548|MGI:3711220|MGI:3711258|MGI:3714985|MGI:88019|MGI:88020" 104700 3.2.1.1 HGNC:474 "ENST00000370083.9|NM_004038.4" HGNC:475 AMY1B amylase alpha 1B protein-coding gene gene with protein product Approved 1p21.1 01p21.1 AMY1 "amylase, alpha 1B; salivary|amylase alpha 1B (salivary)" Amylases alpha 1648 2001-06-22 2019-07-03 2023-01-20 277 ENSG00000174876 OTTHUMG00000011021 uc001dux.2 NM_001008218 CCDS30783 P0DTE7 "MGI:104548|MGI:3711220|MGI:3711258|MGI:3714985|MGI:88019|MGI:88020" 104701 3.2.1.1 HGNC:475 "ENST00000330330.10|NM_001008218.2" HGNC:476 AMY1C amylase alpha 1C protein-coding gene gene with protein product Approved 1p21.1 01p21.1 AMY1 "amylase, alpha 1C; salivary|amylase alpha 1C (salivary)" Amylases alpha 1648 2001-06-22 2019-07-03 2023-01-20 278 ENSG00000187733 OTTHUMG00000011045 uc057itq.1 NM_001008219 CCDS30784 P0DTE8 "MGI:104548|MGI:3711220|MGI:3711258|MGI:3714985|MGI:88019|MGI:88020" 104702 3.2.1.1 HGNC:476 "ENST00000622339.5|NM_001008219.3" HGNC:477 AMY2A amylase alpha 2A protein-coding gene gene with protein product Approved 1p21.1 01p21.1 AMY2 "amylase, alpha 2A; pancreatic|amylase alpha 2A (pancreatic)" Amylases alpha 1648 2001-06-22 2019-07-03 2023-01-20 279 ENSG00000243480 OTTHUMG00000011023 uc057itg.1 BC007060 NM_000699 CCDS783 P04746 3260028 "MGI:104548|MGI:3711220|MGI:3711258|MGI:3714985|MGI:88019|MGI:88020" 104650 objectId:2596 3.2.1.1 HGNC:477 "ENST00000414303.7|NM_000699.4" HGNC:478 AMY2B amylase alpha 2B protein-coding gene gene with protein product Approved 1p21.1 01p21.1 AMY2 "amylase, alpha 2B; pancreatic|amylase alpha 2B (pancreatic)" Amylases alpha 1648 1988-08-19 2019-07-03 2023-01-20 280 ENSG00000240038 OTTHUMG00000011024 uc001duq.5 M24895 NM_020978 CCDS782 P19961 8268204 "MGI:104548|MGI:3711220|MGI:3711258|MGI:3714985|MGI:88019|MGI:88020" RGD:2113 104660 3.2.1.1 HGNC:478 "ENST00000684275.1|NM_001387437.1" HGNC:479 AMYP1 amylase alpha pseudogene 1 pseudogene pseudogene Approved 1p21.1 01p21.1 AMY2P Amylases alpha 1648 2001-06-22 2019-01-18 2019-01-18 281 ENSG00000227408 OTTHUMG00000011044 NG_004750 PGOHUM00000244824 HGNC:479 -HGNC:22231 AMZ1 archaelysin family metallopeptidase 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 KIAA1950 archaemetzincin-1 M54 metallopeptidase family 2107 2008-01-17 2023-01-20 155185 ENSG00000174945 OTTHUMG00000152111 uc003smr.3 AB075830 NM_133463 "CCDS34589|CCDS64582" Q400G9 15972818 MGI:2442258 RGD:1311314 615168 M54.003 HGNC:22231 "ENST00000683327.1|NM_001384743.1" -HGNC:28041 AMZ2 archaelysin family metallopeptidase 2 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 archaemetzincin-2 M54 metallopeptidase family 2107 2008-01-17 2023-01-20 51321 ENSG00000196704 OTTHUMG00000179802 uc002jgv.2 CR609550 NM_016627 "CCDS11674|CCDS32714" Q86W34 15972818 MGI:104837 RGD:1304846 615169 M54.002 HGNC:28041 "ENST00000359904.8|NM_016627.5" +HGNC:22231 AMZ1 archaelysin family metallopeptidase 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 KIAA1950 archaemetzincin-1 M54 metallopeptidase family 2107 2008-01-17 2023-01-20 155185 ENSG00000174945 OTTHUMG00000152111 uc003smr.3 AB075830 NM_133463 "CCDS64582|CCDS34589" Q400G9 15972818 MGI:2442258 RGD:1311314 615168 M54.003 HGNC:22231 "ENST00000683327.1|NM_001384743.1" +HGNC:28041 AMZ2 archaelysin family metallopeptidase 2 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 archaemetzincin-2 M54 metallopeptidase family 2107 2008-01-17 2023-01-20 51321 ENSG00000196704 OTTHUMG00000179802 uc002jgv.2 CR609550 NM_016627 "CCDS32714|CCDS11674" Q86W34 15972818 MGI:104837 RGD:1304846 615169 M54.002 HGNC:28041 "ENST00000359904.8|NM_016627.5" HGNC:26491 AMZ2P1 AMZ2 pseudogene 1 pseudogene pseudogene Approved 17q24.1 17q24.1 FLJ32065 archaelysin family metallopeptidase 2 pseudogene 1 2010-04-08 2021-03-25 2023-03-15 201283 ENSG00000214174 OTTHUMG00000132075 AK056627 NR_026903 PGOHUM00000262965 HGNC:26491 HGNC:38072 AMZ2P2 AMZ2 pseudogene 2 pseudogene pseudogene Approved 6q25.3 06q25.3 archaelysin family metallopeptidase 2 pseudogene 2 2010-04-08 2021-03-25 2021-03-25 100421018 ENSG00000219249 OTTHUMG00000015914 NG_022335 PGOHUM00000243433 HGNC:38072 HGNC:54911 AMZ2P3 AMZ2 pseudogene 3 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-04-24 100128929 ENSG00000233807 NG_022586 @@ -987,14 +987,14 @@ HGNC:54710 ANAPC1P4 ANAPC1 pseudogene 4 pseudogene pseudogene Approved 2p11.2 02 HGNC:54711 ANAPC1P5 ANAPC1 pseudogene 5 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-06 2020-01-21 100420890 ENSG00000275597 OTTHUMG00000187608 NG_023582 PGOHUM00000297955 HGNC:54712 ANAPC1P6 ANAPC1 pseudogene 6 pseudogene pseudogene Approved 2q12.2 02q12.2 2019-12-06 2020-01-21 402096 ENSG00000235486 OTTHUMG00000153179 NR_157576 PGOHUM00000298605 HGNC:19989 ANAPC2 anaphase promoting complex subunit 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "APC2|KIAA1406" Anaphase promoting complex 402 2004-01-06 2023-01-20 29882 ENSG00000176248 OTTHUMG00000020983 uc004clr.2 AB037827 NM_013366 CCDS7033 Q9UJX6 11739784 MGI:2139135 RGD:1305546 606946 HGNC:19989 "ENST00000323927.3|NM_013366.4" -HGNC:19990 ANAPC4 anaphase promoting complex subunit 4 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 APC4 Anaphase promoting complex 402 2004-01-13 2023-01-20 29945 ENSG00000053900 OTTHUMG00000097753 uc003gro.4 AF191338 NM_013367 "CCDS3434|CCDS68684" Q9UJX5 6180011 MGI:1098673 RGD:1306572 606947 HGNC:19990 "ENST00000315368.8|NM_013367.3" -HGNC:15713 ANAPC5 anaphase promoting complex subunit 5 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 APC5 Anaphase promoting complex 402 2001-06-01 2023-01-20 51433 ENSG00000089053 OTTHUMG00000169157 uc001uag.4 AF191339 NM_001137559 "CCDS81749|CCDS9220|CCDS45000" Q9UJX4 9469815 MGI:1929722 RGD:1306125 606948 HGNC:15713 "ENST00000261819.8|NM_016237.5" HGNC:15713 -HGNC:17380 ANAPC7 anaphase promoting complex subunit 7 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 APC7 "Anaphase promoting complex |Tetratricopeptide repeat domain containing" "402|769" 2004-01-13 2023-01-20 51434 ENSG00000196510 OTTHUMG00000157009 uc001tqo.2 AF191340 NM_016238 "CCDS44971|CCDS9145" Q9UJX3 MGI:1929711 RGD:1311927 606949 HGNC:17380 "ENST00000455511.9|NM_016238.3" +HGNC:19990 ANAPC4 anaphase promoting complex subunit 4 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 APC4 Anaphase promoting complex 402 2004-01-13 2023-01-20 29945 ENSG00000053900 OTTHUMG00000097753 uc003gro.4 AF191338 NM_013367 "CCDS68684|CCDS3434" Q9UJX5 6180011 MGI:1098673 RGD:1306572 606947 HGNC:19990 "ENST00000315368.8|NM_013367.3" +HGNC:15713 ANAPC5 anaphase promoting complex subunit 5 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 APC5 Anaphase promoting complex 402 2001-06-01 2023-01-20 51433 ENSG00000089053 OTTHUMG00000169157 uc001uag.4 AF191339 NM_001137559 "CCDS9220|CCDS81749|CCDS45000" Q9UJX4 9469815 MGI:1929722 RGD:1306125 606948 HGNC:15713 "ENST00000261819.8|NM_016237.5" HGNC:15713 +HGNC:17380 ANAPC7 anaphase promoting complex subunit 7 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 APC7 "Anaphase promoting complex |Tetratricopeptide repeat domain containing" "402|769" 2004-01-13 2023-01-20 51434 ENSG00000196510 OTTHUMG00000157009 uc001tqo.2 AF191340 NM_016238 "CCDS9145|CCDS44971" Q9UJX3 MGI:1929711 RGD:1311927 606949 HGNC:17380 "ENST00000455511.9|NM_016238.3" HGNC:24077 ANAPC10 anaphase promoting complex subunit 10 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "APC10|DOC1|DKFZP564L0562" Anaphase promoting complex 402 2004-05-21 2023-01-20 10393 ENSG00000164162 OTTHUMG00000161477 uc031shp.1 AF132794 NM_014885 CCDS43273 Q9UM13 "10318877|11230166" MGI:1916249 RGD:1308936 613745 HGNC:24077 "ENST00000507656.6|NM_001256706.2" HGNC:33976 ANAPC10P1 anaphase promoting complex subunit 10 pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 ANAPC10P anaphase promoting complex subunit 10 pseudogene 2008-01-31 2010-03-24 2010-03-24 2014-11-18 729198 ENSG00000213735 OTTHUMG00000008062 NG_007660 PGOHUM00000244720 HGNC:33976 -HGNC:14452 ANAPC11 anaphase promoting complex subunit 11 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "HSPC214|APC11|Apc11p|MGC882" anaphase promoting complex subunit 11 (yeast APC11 homolog) "Ring finger proteins|Anaphase promoting complex " "58|402" 2001-03-08 2008-10-30 2023-03-15 51529 ENSG00000141552 OTTHUMG00000177982 uc032fte.2 AF247565 NM_016476 "CCDS11789|CCDS32769" Q9NYG5 "10922056|25825779" MGI:1913406 RGD:1561880 614534 HGNC:14452 "ENST00000344877.10|NM_001002248.3" +HGNC:14452 ANAPC11 anaphase promoting complex subunit 11 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "HSPC214|APC11|Apc11p|MGC882" anaphase promoting complex subunit 11 (yeast APC11 homolog) "Ring finger proteins|Anaphase promoting complex " "58|402" 2001-03-08 2008-10-30 2023-03-15 51529 ENSG00000141552 OTTHUMG00000177982 uc032fte.2 AF247565 NM_016476 "CCDS32769|CCDS11789" Q9NYG5 "10922056|25825779" MGI:1913406 RGD:1561880 614534 HGNC:14452 "ENST00000344877.10|NM_001002248.3" HGNC:24540 ANAPC13 anaphase promoting complex subunit 13 protein-coding gene gene with protein product Approved 3q22.2 03q22.2 "SWM1|APC13|DKFZP566D193" Anaphase promoting complex 402 2004-05-24 2023-01-20 25847 ENSG00000129055 OTTHUMG00000159803 uc062obl.1 AF086169 NM_015391 CCDS3085 Q9BS18 15060174 MGI:1916260 RGD:1583270 614484 HGNC:24540 "ENST00000354910.10|NM_015391.4" -HGNC:24531 ANAPC15 anaphase promoting complex subunit 15 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "HSPC020|DKFZP564M082|APC15" C11orf51 chromosome 11 open reading frame 51 Anaphase promoting complex 402 2006-02-06 2012-05-31 2012-05-31 2023-01-20 25906 ENSG00000110200 OTTHUMG00000167865 uc001orw.4 AL080071 NM_014042 "CCDS8210|CCDS60880|CCDS81593|CCDS91530" P60006 21926987 MGI:1922680 RGD:1311634 614717 HGNC:24531 "ENST00000227618.9|NM_014042.3" +HGNC:24531 ANAPC15 anaphase promoting complex subunit 15 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "HSPC020|DKFZP564M082|APC15" C11orf51 chromosome 11 open reading frame 51 Anaphase promoting complex 402 2006-02-06 2012-05-31 2012-05-31 2023-01-20 25906 ENSG00000110200 OTTHUMG00000167865 uc001orw.4 AL080071 NM_014042 "CCDS8210|CCDS60880|CCDS91530|CCDS81593" P60006 21926987 MGI:1922680 RGD:1311634 614717 HGNC:24531 "ENST00000227618.9|NM_014042.3" HGNC:54888 ANAPC15P1 ANAPC15 pseudogene 1 pseudogene pseudogene Approved Xp22.31 Xp22.31 2020-04-17 2020-04-17 100128808 ENSG00000231619 NG_030154 HGNC:54889 ANAPC15P2 ANAPC15 pseudogene 2 pseudogene pseudogene Approved 3q26.31 03q26.31 2020-04-17 2020-04-17 117751731 ENSG00000232601 NG_079071 HGNC:26976 ANAPC16 anaphase promoting complex subunit 16 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "bA570G20.3|FLJ33728|APC16|CENP-27" centromere protein 27 C10orf104 chromosome 10 open reading frame 104 Anaphase promoting complex 402 2004-04-16 2010-04-06 2010-04-06 2023-01-20 119504 ENSG00000166295 OTTHUMG00000018433 uc001jsw.4 BC009530 NM_173473 "CCDS73147|CCDS7314" Q96DE5 "14702039|20360068" MGI:1289325 RGD:2321124 613427 HGNC:26976 "ENST00000299381.5|NM_173473.4" @@ -1003,7 +1003,7 @@ HGNC:483 ANG angiogenin protein-coding gene gene with protein product Approved 1 HGNC:19961 ANGEL1 angel homolog 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 Ccr4e KIAA0759 angel homolog 1 (Drosophila) 2003-11-21 2005-08-04 2016-06-29 2023-01-20 23357 ENSG00000013523 OTTHUMG00000171494 uc001xsv.4 AF111169 NM_015305 CCDS9852 Q9UNK9 11943475 MGI:1915987 RGD:1306238 619537 HGNC:19961 "ENST00000251089.8|NM_015305.4" HGNC:30534 ANGEL2 angel homolog 2 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "KIAA0759L|FLJ12793|Ccr4d" angel homolog 2 (Drosophila) 2005-08-04 2016-06-29 2023-01-20 90806 ENSG00000174606 OTTHUMG00000036927 uc001hjz.3 AL079275 NM_144567 "CCDS1512|CCDS73027" Q5VTE6 "11943475|32732418" MGI:1196310 RGD:1305056 619001 HGNC:30534 "ENST00000366962.8|NM_144567.5" HGNC:484 ANGPT1 angiopoietin 1 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "KIAA0003|Ang1|AGPT-1" "Receptor ligands|Fibrinogen C domain containing" "542|554" 1997-04-10 2023-01-20 284 ENSG00000154188 OTTHUMG00000164812 uc003ymn.4 D13628 "NM_001146|NM_139290" "CCDS83313|CCDS56551|CCDS6306" Q15389 9545648 MGI:108448 RGD:628896 601667 ligandId:4867 HGNC:484 "ENST00000517746.6|NM_001146.5" HGNC:484 -HGNC:485 ANGPT2 angiopoietin 2 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 Ang2 "Receptor ligands|Fibrinogen C domain containing" "542|554" 1997-07-22 2023-01-20 285 ENSG00000091879 OTTHUMG00000090365 uc003wqj.6 AF004327 NM_001147 "CCDS47762|CCDS5958|CCDS47761" O15123 9545648 MGI:1202890 RGD:621861 601922 ligandId:5316 HGNC:485 "ENST00000629816.3|NM_001118887.2" +HGNC:485 ANGPT2 angiopoietin 2 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 Ang2 "Receptor ligands|Fibrinogen C domain containing" "542|554" 1997-07-22 2023-01-20 285 ENSG00000091879 OTTHUMG00000090365 uc003wqj.6 AF004327 NM_001147 "CCDS47761|CCDS5958|CCDS47762" O15123 9545648 MGI:1202890 RGD:621861 601922 ligandId:5316 HGNC:485 "ENST00000629816.3|NM_001118887.2" HGNC:487 ANGPT4 angiopoietin 4 protein-coding gene gene with protein product Approved 20p13 20p13 "Receptor ligands|Fibrinogen C domain containing" "542|554" 1999-01-28 2023-01-20 51378 ENSG00000101280 OTTHUMG00000031652 uc002wei.4 AF074332 NM_015985 CCDS13009 Q9Y264 "10051567|10218486" MGI:1336887 RGD:1307539 603705 ligandId:4868 HGNC:487 "ENST00000381922.5|NM_015985.4" HGNC:489 ANGPTL1 angiopoietin like 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "ANG3|AngY|ARP1" angioarrestin ANGPT3 angiopoietin-like 1 "Receptor ligands|Fibrinogen C domain containing|Angiopoietin like family" "542|554|905" 2000-02-07 2015-11-11 2023-01-20 9068 ENSG00000116194 OTTHUMG00000035075 uc001gma.4 AF107253 NM_004673 CCDS1327 O95841 "10025962|9286704" MGI:1919963 RGD:1598128 603874 ligandId:5317 HGNC:489 "ENST00000234816.7|NM_004673.4" HGNC:490 ANGPTL2 angiopoietin like 2 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "ARP2|HARP" angiopoietin-like 2 "Fibrinogen C domain containing|Angiopoietin like family" "554|905" 2000-02-07 2015-11-11 2023-01-20 23452 ENSG00000136859 OTTHUMG00000020695 uc004bqr.2 AF125175 NM_012098 CCDS6868 Q9UKU9 10473614 MGI:1347002 RGD:620004 605001 HGNC:490 "ENST00000373425.8|NM_012098.3" @@ -1013,33 +1013,33 @@ HGNC:19705 ANGPTL5 angiopoietin like 5 protein-coding gene gene with protein pro HGNC:23140 ANGPTL6 angiopoietin like 6 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "ARP5|AGF" angiopoietin-related protein 5 angiopoietin-like 6 "Fibrinogen C domain containing|Angiopoietin like family" "554|905" 2003-09-24 2015-11-11 2023-01-20 83854 ENSG00000130812 OTTHUMG00000180395 uc002mmy.2 AB054064 NM_031917 CCDS12224 Q8NI99 12871997 MGI:1917976 RGD:1311141 609336 HGNC:23140 "ENST00000253109.5|NM_031917.3" HGNC:23140 HGNC:24078 ANGPTL7 angiopoietin like 7 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "CDT6|AngX" angiopoietin-like 7 "Receptor ligands|Fibrinogen C domain containing|Angiopoietin like family" "542|554|905" 2005-01-07 2015-11-11 2023-01-20 10218 ENSG00000171819 OTTHUMG00000002002 uc001ase.5 Y16132 NM_021146 CCDS128 O43827 "9727400|11682471" MGI:3605801 RGD:7553363 618517 ligandId:5321 HGNC:24078 "ENST00000376819.4|NM_021146.4" HGNC:24933 ANGPTL8 angiopoietin like 8 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TD26|RIFL" "lipasin|betatrophin" C19orf80 "chromosome 19 open reading frame 80|angiopoietin-like 8" Angiopoietin like family 905 2011-08-04 2015-10-23 2015-11-11 2023-01-20 55908 ENSG00000130173 uc021upf.2 NM_018687 CCDS54220 Q6UXH0 "22809513|23150577|24262987" MGI:3643534 RGD:2320121 616223 HGNC:24933 "ENST00000252453.12|NM_018687.7" -HGNC:40024 ANHX anomalous homeobox protein-coding gene gene with protein product Approved 12q24.33 12q24.33 2012-05-18 2023-01-20 647589 ENSG00000227059 OTTHUMG00000167949 uc058vpf.1 NM_001191054 "CCDS53855|CCDS91786" E9PGG2 RGD:41216075 HGNC:40024 "ENST00000545940.6|NM_001372060.1" -HGNC:492 ANK1 ankyrin 1 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 SPH1 ANK ankyrin 1, erythrocytic "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 1989-06-06 2015-11-20 2023-03-15 286 ENSG00000029534 OTTHUMG00000150281 uc003xom.4 M28880 NM_020475 "CCDS55227|CCDS47849|CCDS6119|CCDS6121|CCDS6120|CCDS6122" P16157 1689849 MGI:88024 RGD:1309620 612641 121356 HGNC:492 "ENST00000289734.13|NM_000037.4" HGNC:492 -HGNC:493 ANK2 ankyrin 2 protein-coding gene gene with protein product Approved 4q25-q26 04q25-q26 "FAP87|CFAP87" LQT4 "long (electrocardiographic) QT syndrome 4|ankyrin 2, neuronal" "Ankyrin repeat domain containing|Cilia and flagella associated|MicroRNA protein coding host genes" "403|1491|1691" 1991-06-04 2016-08-11 2023-01-20 287 ENSG00000145362 OTTHUMG00000132912 uc062zcy.1 M37123 NM_001148 "CCDS93585|CCDS43261|CCDS54796|CCDS3702|CCDS93575|CCDS93573|CCDS93572|CCDS93576|CCDS93574|CCDS93577|CCDS93579|CCDS93578|CCDS93583|CCDS93584|CCDS93580|CCDS93586|CCDS93581|CCDS93589|CCDS93582|CCDS93587|CCDS93592|CCDS93590|CCDS93596|CCDS93588|CCDS93593|CCDS93591|CCDS93594|CCDS93597|CCDS93600|CCDS93595|CCDS93598|CCDS93599|CCDS87250" Q01484 "7485162|12571597" MGI:88025 RGD:620156 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|ANK2 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=ANK2|LRG_327|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_327.xml" 106410 121360 HGNC:493 "ENST00000357077.9|NM_001148.6" HGNC:493 +HGNC:40024 ANHX anomalous homeobox protein-coding gene gene with protein product Approved 12q24.33 12q24.33 2012-05-18 2023-01-20 647589 ENSG00000227059 OTTHUMG00000167949 uc058vpf.1 NM_001191054 "CCDS91786|CCDS53855" E9PGG2 RGD:41216075 HGNC:40024 "ENST00000545940.6|NM_001372060.1" +HGNC:492 ANK1 ankyrin 1 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 SPH1 ANK ankyrin 1, erythrocytic "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 1989-06-06 2015-11-20 2023-03-15 286 ENSG00000029534 OTTHUMG00000150281 uc003xom.4 M28880 NM_020475 "CCDS6122|CCDS47849|CCDS55227|CCDS6121|CCDS6119|CCDS6120" P16157 1689849 MGI:88024 RGD:1309620 612641 121356 HGNC:492 "ENST00000289734.13|NM_000037.4" HGNC:492 +HGNC:493 ANK2 ankyrin 2 protein-coding gene gene with protein product Approved 4q25-q26 04q25-q26 "FAP87|CFAP87" LQT4 "long (electrocardiographic) QT syndrome 4|ankyrin 2, neuronal" "Ankyrin repeat domain containing|Cilia and flagella associated|MicroRNA protein coding host genes" "403|1491|1691" 1991-06-04 2016-08-11 2023-01-20 287 ENSG00000145362 OTTHUMG00000132912 uc062zcy.1 M37123 NM_001148 "CCDS87250|CCDS93597|CCDS54796|CCDS93600|CCDS93595|CCDS93594|CCDS3702|CCDS93590|CCDS93589|CCDS93586|CCDS93591|CCDS93587|CCDS93593|CCDS93596|CCDS43261|CCDS93573|CCDS93588|CCDS93599|CCDS93592|CCDS93598|CCDS93582|CCDS93581|CCDS93579|CCDS93575|CCDS93572|CCDS93578|CCDS93577|CCDS93576|CCDS93585|CCDS93583|CCDS93580|CCDS93584|CCDS93574" Q01484 "7485162|12571597" MGI:88025 RGD:620156 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|ANK2 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=ANK2|LRG_327|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_327.xml" 106410 121360 HGNC:493 "ENST00000357077.9|NM_001148.6" HGNC:493 HGNC:40076 ANK2-AS1 ANK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q25 04q25 Antisense RNAs 1987 2019-07-19 2019-07-19 105377373 ENSG00000248152 OTTHUMG00000161562 XR_001741419 HGNC:40076 -HGNC:494 ANK3 ankyrin 3 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "ankyrin-3, node of Ranvier|ankyrin-G" ankyrin 3, node of Ranvier (ankyrin G) Ankyrin repeat domain containing 403 1994-11-22 2016-08-11 2023-01-20 288 ENSG00000151150 OTTHUMG00000018288 uc001jky.4 U13616 NM_020987 "CCDS55711|CCDS55712|CCDS7258|CCDS7259" Q12955 7665168 MGI:88026 RGD:620157 600465 358448 HGNC:494 "ENST00000280772.7|NM_020987.5" HGNC:494 +HGNC:494 ANK3 ankyrin 3 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "ankyrin-3, node of Ranvier|ankyrin-G" ankyrin 3, node of Ranvier (ankyrin G) Ankyrin repeat domain containing 403 1994-11-22 2016-08-11 2023-01-20 288 ENSG00000151150 OTTHUMG00000018288 uc001jky.4 U13616 NM_020987 "CCDS55711|CCDS7258|CCDS55712|CCDS7259" Q12955 7665168 MGI:88026 RGD:620157 600465 358448 HGNC:494 "ENST00000280772.7|NM_020987.5" HGNC:494 HGNC:54102 ANK3-DT ANK3 divergent transcript non-coding RNA RNA, long non-coding Approved 10q21.2 10q21.2 Divergent transcripts 1990 2018-11-29 2018-11-29 105378320 ENSG00000254271 NR_184155 HGNC:54102 HGNC:26350 ANKAR ankyrin and armadillo repeat containing protein-coding gene gene with protein product Approved 2q32.2 02q32.2 FLJ25415 "Ankyrin repeat domain containing|Armadillo repeat containing" "403|409" 2006-07-12 2023-01-20 150709 ENSG00000151687 OTTHUMG00000154398 uc002uqw.3 AJ549812 NM_144708 CCDS33351 Q7Z5J8 15110750 MGI:2442559 RGD:1561071 609803 HGNC:26350 "ENST00000684021.1|NM_001378068.1" HGNC:28002 ANKDD1A ankyrin repeat and death domain containing 1A protein-coding gene gene with protein product Approved 15q22.31 15q22.31 FLJ25870 Ankyrin repeat domain containing 403 2006-02-16 2006-02-16 2023-01-20 348094 ENSG00000166839 OTTHUMG00000133051 uc032chd.2 NM_182703 CCDS10197 Q495B1 30082910 MGI:2686319 RGD:1586052 HGNC:28002 "ENST00000319580.13|NM_182703.6" HGNC:32525 ANKDD1B ankyrin repeat and death domain containing 1B protein-coding gene gene with protein product Approved 5q13.3 05q13.3 Ankyrin repeat domain containing 403 2006-02-16 2006-02-16 2023-01-20 728780 ENSG00000189045 OTTHUMG00000162490 uc031ski.2 NM_001276713 CCDS64180 A6NHY2 MGI:2444730 RGD:2325067 619920 HGNC:32525 "ENST00000601380.4|NM_001276713.2" HGNC:32525 HGNC:15803 ANKEF1 ankyrin repeat and EF-hand domain containing 1 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "FLJ21669|dJ839B4.6" ANKRD5 ankyrin repeat domain 5 "Ankyrin repeat domain containing|EF-hand domain containing" "403|863" 2001-09-17 2013-01-11 2013-01-11 2023-01-20 63926 ENSG00000132623 OTTHUMG00000031860 uc002wnp.4 AK025322 NM_022096 CCDS13108 Q9NU02 17142250 MGI:2441685 RGD:1304809 HGNC:15803 "ENST00000378392.6|NM_022096.6" -HGNC:26766 ANKFN1 ankyrin repeat and fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 17q22 17q22 FLJ38335 "Ankyrin repeat domain containing|Fibronectin type III domain containing" "403|555" 2005-11-15 2015-12-17 2023-01-20 162282 ENSG00000153930 OTTHUMG00000155010 uc002iun.1 AK095654 NM_153228 "CCDS32686|CCDS92363" Q8N957 MGI:2686021 RGD:7736477 HGNC:26766 "ENST00000682825.1|NM_001370326.1" -HGNC:20763 ANKFY1 ankyrin repeat and FYVE domain containing 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "ANKHZN|KIAA1255|ZFYVE14|BTBD23|RANK-5" rabankyrin-5 "Zinc fingers FYVE-type|Ankyrin repeat domain containing|BTB domain containing" "81|403|861" 2003-04-29 2023-03-15 51479 ENSG00000185722 OTTHUMG00000177727 uc059zsj.1 AB033081 NM_016376 "CCDS42236|CCDS82038|CCDS58502" Q9P2R3 "10940552|17273843" MGI:1337008 RGD:1309598 607927 HGNC:20763 "ENST00000341657.9|NM_001330063.2" HGNC:20763 +HGNC:26766 ANKFN1 ankyrin repeat and fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 17q22 17q22 FLJ38335 "Ankyrin repeat domain containing|Fibronectin type III domain containing" "403|555" 2005-11-15 2015-12-17 2023-01-20 162282 ENSG00000153930 OTTHUMG00000155010 uc002iun.1 AK095654 NM_153228 "CCDS92363|CCDS32686" Q8N957 MGI:2686021 RGD:7736477 HGNC:26766 "ENST00000682825.1|NM_001370326.1" +HGNC:20763 ANKFY1 ankyrin repeat and FYVE domain containing 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "ANKHZN|KIAA1255|ZFYVE14|BTBD23|RANK-5" rabankyrin-5 "Zinc fingers FYVE-type|Ankyrin repeat domain containing|BTB domain containing" "81|403|861" 2003-04-29 2023-03-15 51479 ENSG00000185722 OTTHUMG00000177727 uc059zsj.1 AB033081 NM_016376 "CCDS42236|CCDS58502|CCDS82038" Q9P2R3 "10940552|17273843" MGI:1337008 RGD:1309598 607927 HGNC:20763 "ENST00000341657.9|NM_001330063.2" HGNC:20763 HGNC:15492 ANKH ANKH inorganic pyrophosphate transport regulator protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "HANK|ANK|CPPDD|SLC62A1" "CCAL2|CMDJ" "ankylosis, progressive (mouse) homolog|craniometaphyseal dysplasia, Jackson type (dominant)|ankylosis, progressive homolog (mouse)" "MicroRNA protein coding host genes|Solute carrier family 62" "1691|2211" 2001-04-05 2013-06-19 2023-03-14 56172 ENSG00000154122 OTTHUMG00000090539 uc003jfm.5 AF274753 NM_054027 CCDS3885 Q9HCJ1 "10894769|12297989|11326338" MGI:3045421 RGD:619925 LRG_1362|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1362.xml 605145 SLC62A1 121363 objectId:3046 HGNC:15492 "ENST00000284268.8|NM_054027.6" HGNC:15492 HGNC:55234 ANKH-DT ANKH divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 Divergent transcripts 1990 2020-09-16 2020-09-16 118597842 ENSG00000272057 -HGNC:24714 ANKHD1 ankyrin repeat and KH domain containing 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "MASK|FLJ20288|FLJ11979|FLJ10042|FLJ14127|KIAA1085|MASK1" Ankyrin repeat domain containing 403 2004-04-16 2023-01-20 54882 ENSG00000131503 OTTHUMG00000161610 uc003lfr.3 AF521882 NM_017747 "CCDS75319|CCDS43372|CCDS43371|CCDS4225" Q8IWZ3 "10470851|11230166|16098192" MGI:1921733 RGD:4892133 610500 HGNC:24714 "ENST00000360839.7|NM_017747.3" -HGNC:55564 ANKHD1-DT ANKHD1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 Divergent transcripts 1990 2021-04-14 2021-04-14 121232368 ENSG00000249637 +HGNC:24714 ANKHD1 ankyrin repeat and KH domain containing 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "MASK|FLJ20288|FLJ11979|FLJ10042|FLJ14127|KIAA1085|MASK1" Ankyrin repeat domain containing 403 2004-04-16 2023-01-20 54882 ENSG00000131503 OTTHUMG00000161610 uc003lfr.3 AF521882 NM_017747 "CCDS75319|CCDS43372|CCDS4225|CCDS43371" Q8IWZ3 "10470851|11230166|16098192" MGI:1921733 RGD:4892133 610500 HGNC:24714 "ENST00000360839.7|NM_017747.3" +HGNC:55564 ANKHD1-DT ANKHD1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 Divergent transcripts 1990 2021-04-14 2021-04-14 121232368 ENSG00000249637 NR_186044 HGNC:33530 ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough other readthrough Approved 5q31.3 05q31.3 MASK-BP3 2007-07-31 2023-01-20 404734 ENSG00000254996 OTTHUMG00000166212 uc003lfs.3 AF521883 NM_020690 "16297570|14557257" MGI:1921733 HGNC:33530 HGNC:22215 ANKIB1 ankyrin repeat and IBR domain containing 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "DKFZP434A0225|KIAA1386" "Ankyrin repeat domain containing|RBR E3 ubiquitin ligases" "403|1391" 2004-03-02 2023-01-20 54467 ENSG00000001629 OTTHUMG00000155859 uc003ulw.2 AB037807 NM_019004 CCDS47639 Q9P2G1 MGI:1918047 RGD:1597088 620069 HGNC:22215 "ENST00000265742.8|NM_019004.2" HGNC:21027 ANKK1 ankyrin repeat and kinase domain containing 1 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 X-kinase Ankyrin repeat domain containing 403 2003-05-13 2023-01-20 255239 ENSG00000170209 OTTHUMG00000167715 uc001pny.3 AJ541797 NM_178510 CCDS44734 Q8NFD2 15146457 MGI:3045301 RGD:1305538 608774 objectId:1932 HGNC:21027 "ENST00000303941.4|NM_178510.2" -HGNC:26812 ANKLE1 ankyrin repeat and LEM domain containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ39369|LEMD6" LEM domain containing 6 ANKRD41 ankyrin repeat domain 41 "Ankyrin repeat domain containing|LEM domain containing|GIY-YIG endonuclease domain containing" "403|1087|2130" 2005-05-29 2008-03-25 2008-03-25 2023-01-20 126549 ENSG00000160117 OTTHUMG00000150839 uc002nga.3 AK096688 NM_152363 "CCDS12354|CCDS92554" Q8NAG6 "22399800|32866453" MGI:1918775 RGD:1308184 619348 HGNC:26812 "ENST00000404085.7|NM_152363.6" +HGNC:26812 ANKLE1 ankyrin repeat and LEM domain containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ39369|LEMD6" LEM domain containing 6 ANKRD41 ankyrin repeat domain 41 "Ankyrin repeat domain containing|LEM domain containing|GIY-YIG endonuclease domain containing" "403|1087|2130" 2005-05-29 2008-03-25 2008-03-25 2023-01-20 126549 ENSG00000160117 OTTHUMG00000150839 uc002nga.3 AK096688 NM_152363 "CCDS92554|CCDS12354" Q8NAG6 "22399800|32866453" MGI:1918775 RGD:1308184 619348 HGNC:26812 "ENST00000404085.7|NM_152363.6" HGNC:29101 ANKLE2 ankyrin repeat and LEM domain containing 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "LEMD7|Lem4" "LEM domain containing 7|LEM-domain protein 4" KIAA0692 KIAA0692 "Ankyrin repeat domain containing|LEM domain containing" "403|1087" 2006-01-17 2008-03-25 2008-03-25 2023-01-20 23141 ENSG00000176915 OTTHUMG00000168046 uc001ukx.3 AB014592 NM_015114 CCDS41869 Q86XL3 "9734811|31735666" MGI:1261856 RGD:1310191 616062 445103 HGNC:29101 "ENST00000357997.10|NM_015114.3" HGNC:29101 -HGNC:20987 ANKMY1 ankyrin repeat and MYND domain containing 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ20499|ZMYND13" "Zinc fingers MYND-type|Ankyrin repeat domain containing" "87|403" 2003-04-29 2023-01-20 51281 ENSG00000144504 OTTHUMG00000133355 uc002vyz.3 AB034636 NM_017844 "CCDS63184|CCDS2536|CCDS63185|CCDS74681|CCDS2535|CCDS86929" Q9P2S6 MGI:3045261 RGD:1595229 HGNC:20987 "ENST00000401804.6|NM_001282771.3" +HGNC:20987 ANKMY1 ankyrin repeat and MYND domain containing 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ20499|ZMYND13" "Zinc fingers MYND-type|Ankyrin repeat domain containing" "87|403" 2003-04-29 2023-01-20 51281 ENSG00000144504 OTTHUMG00000133355 uc002vyz.3 AB034636 NM_017844 "CCDS63184|CCDS74681|CCDS86929|CCDS2535|CCDS63185|CCDS2536" Q9P2S6 MGI:3045261 RGD:1595229 HGNC:20987 "ENST00000401804.6|NM_001282771.3" HGNC:25370 ANKMY2 ankyrin repeat and MYND domain containing 2 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "DKFZP564O043|ZMYND20" "Zinc fingers MYND-type|Ankyrin repeat domain containing" "87|403" 2004-03-05 2023-01-20 57037 ENSG00000106524 OTTHUMG00000090806 uc003sti.3 AK001740 NM_020319 CCDS5361 Q8IV38 25077969 MGI:2144755 RGD:1306017 HGNC:25370 "ENST00000306999.7|NM_020319.3" HGNC:13208 ANKRA2 ankyrin repeat family A member 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 ankyrin repeat, family A (RFXANK-like), 2 Ankyrin repeat domain containing 403 2000-09-19 2016-01-06 2023-01-20 57763 ENSG00000164331 OTTHUMG00000102030 uc003kcu.3 AA442702 NM_023039 CCDS4020 Q9H9E1 10965114 MGI:1915808 RGD:1303108 605787 HGNC:13208 "ENST00000296785.8|NM_023039.5" HGNC:15819 ANKRD1 ankyrin repeat domain 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "C-193|ALRP|CARP|CVARP|MCARP" ankyrin repeat domain 1 (cardiac muscle) Ankyrin repeat domain containing 403 2003-11-10 2016-02-01 2023-01-20 27063 ENSG00000148677 OTTHUMG00000018734 uc001khe.2 X83703 NM_014391 CCDS7412 Q15327 7730328 MGI:1097717 RGD:61989 LRG_379|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_379.xml 609599 448317 HGNC:15819 "ENST00000371697.4|NM_014391.3" HGNC:15819 -HGNC:495 ANKRD2 ankyrin repeat domain 2 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 ARPP ankyrin repeat domain 2 (stretch responsive muscle) Ankyrin repeat domain containing 403 1999-11-19 2016-02-01 2023-01-20 26287 ENSG00000165887 OTTHUMG00000018860 uc001knw.5 AJ304805 NM_001129981 "CCDS44468|CCDS86133|CCDS7466|CCDS86134" Q9GZV1 "10873377|15136035|15677738" MGI:1861447 RGD:1305104 610734 HGNC:495 "ENST00000370655.6|NM_001346793.2" -HGNC:17280 ANKRD6 ankyrin repeat domain 6 protein-coding gene gene with protein product Approved 6q15 06q15 KIAA0957 "diversin|diego homolog (Drosophila)" Ankyrin repeat domain containing 403 2001-12-13 2023-01-20 22881 ENSG00000135299 OTTHUMG00000015202 uc003pni.5 AB023174 NM_001242809 "CCDS56442|CCDS56443|CCDS56441|CCDS47460" Q9Y2G4 25218921 MGI:2154278 RGD:1583731 610583 HGNC:17280 "ENST00000339746.9|NM_001242809.2" +HGNC:495 ANKRD2 ankyrin repeat domain 2 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 ARPP ankyrin repeat domain 2 (stretch responsive muscle) Ankyrin repeat domain containing 403 1999-11-19 2016-02-01 2023-01-20 26287 ENSG00000165887 OTTHUMG00000018860 uc001knw.5 AJ304805 NM_001129981 "CCDS86133|CCDS7466|CCDS44468|CCDS86134" Q9GZV1 "10873377|15136035|15677738" MGI:1861447 RGD:1305104 610734 HGNC:495 "ENST00000370655.6|NM_001346793.2" +HGNC:17280 ANKRD6 ankyrin repeat domain 6 protein-coding gene gene with protein product Approved 6q15 06q15 KIAA0957 "diversin|diego homolog (Drosophila)" Ankyrin repeat domain containing 403 2001-12-13 2023-01-20 22881 ENSG00000135299 OTTHUMG00000015202 uc003pni.5 AB023174 NM_001242809 "CCDS47460|CCDS56441|CCDS56443|CCDS56442" Q9Y2G4 25218921 MGI:2154278 RGD:1583731 610583 HGNC:17280 "ENST00000339746.9|NM_001242809.2" HGNC:18588 ANKRD7 ankyrin repeat domain 7 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 TSA806 testis-specific ankyrin motif containing protein Ankyrin repeat domain containing 403 2002-07-22 2023-03-15 56311 ENSG00000106013 OTTHUMG00000156960 uc064hlc.2 D78334 NM_001077708 CCDS43638 Q92527 8812458 MGI:1922446 RGD:1564660 610731 HGNC:18588 "ENST00000265224.9|NM_019644.4" HGNC:20096 ANKRD9 ankyrin repeat domain 9 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 Ankyrin repeat domain containing 403 2002-12-18 2023-01-20 122416 ENSG00000156381 OTTHUMG00000171777 uc001ylz.2 BC015422 NM_001348651 CCDS9973 Q96BM1 MGI:1921501 RGD:1307662 618605 HGNC:20096 "ENST00000286918.9|NM_152326.4" HGNC:20265 ANKRD10 ankyrin repeat domain 10 protein-coding gene gene with protein product Approved 13q34 13q34 FLJ20093 Ankyrin repeat domain containing 403 2003-01-16 2023-01-20 55608 ENSG00000088448 OTTHUMG00000017349 uc001vrn.5 AK000100 NM_001286721 "CCDS66580|CCDS9520" Q9NXR5 MGI:1921840 RGD:1310501 HGNC:20265 "ENST00000267339.6|NM_017664.4" @@ -1047,16 +1047,16 @@ HGNC:39891 ANKRD10-IT1 ANKRD10 intronic transcript 1 non-coding RNA RNA, long no HGNC:21316 ANKRD11 ankyrin repeat domain containing 11 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "LZ16|T13|ANCO1|ANCO-1" ankyrin repeats containing cofactor 1 ankyrin repeat domain 11 Ankyrin repeat domain containing 403 2004-01-15 2021-12-10 2023-01-20 29123 ENSG00000167522 OTTHUMG00000175548 uc002fmx.3 AY373756 NM_013275 CCDS32513 Q6UB99 "18840648|21782149" MGI:1924337 RGD:1306679 611192 273977 HGNC:21316 "ENST00000301030.10|NM_013275.6" HGNC:21316 HGNC:54737 ANKRD11P1 ANKRD11 pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2019-12-19 2020-01-21 100287912 ENSG00000234429 NG_021508 HGNC:54738 ANKRD11P2 ANKRD11 pseudogene 2 pseudogene pseudogene Approved Xq27.3 Xq27.3 2019-12-19 2020-01-21 100419906 ENSG00000231686 NG_026775 -HGNC:29135 ANKRD12 ankyrin repeat domain 12 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "KIAA0874|FLJ20053|GAC-1|ANCO-2" ankyrin repeats containing cofactor 2 Ankyrin repeat domain containing 403 2004-02-05 2023-01-20 23253 ENSG00000101745 OTTHUMG00000131595 uc002knv.4 AY373757 NM_015208 "CCDS42411|CCDS11843" Q6UB98 "10048485|15184363" MGI:1914357 RGD:1310118 610616 HGNC:29135 "ENST00000262126.9|NM_015208.5" +HGNC:29135 ANKRD12 ankyrin repeat domain 12 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "KIAA0874|FLJ20053|GAC-1|ANCO-2" ankyrin repeats containing cofactor 2 Ankyrin repeat domain containing 403 2004-02-05 2023-01-20 23253 ENSG00000101745 OTTHUMG00000131595 uc002knv.4 AY373757 NM_015208 "CCDS11843|CCDS42411" Q6UB98 "10048485|15184363" MGI:1914357 RGD:1310118 610616 HGNC:29135 "ENST00000262126.9|NM_015208.5" HGNC:21268 ANKRD13A ankyrin repeat domain 13A protein-coding gene gene with protein product Approved 12q24.11 12q24.11 NY-REN-25 ANKRD13 ankyrin repeat domain 13 Ankyrin repeat domain containing 403 2003-06-05 2006-06-30 2006-06-30 2023-01-20 88455 ENSG00000076513 OTTHUMG00000169314 uc001tpx.4 AF064604 NM_033121 CCDS9140 Q8IZ07 10508479 MGI:1915670 RGD:1308577 615123 HGNC:21268 "ENST00000261739.9|NM_033121.2" HGNC:26363 ANKRD13B ankyrin repeat domain 13B protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FLJ25555 Ankyrin repeat domain containing 403 2005-07-18 2023-01-20 124930 ENSG00000198720 OTTHUMG00000132731 uc002hei.4 AK092673 NM_152345 CCDS11251 Q86YJ7 MGI:2144501 RGD:1564005 615124 HGNC:26363 "ENST00000394859.8|NM_152345.5" HGNC:25374 ANKRD13C ankyrin repeat domain 13C protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "DKFZP566D1346|dJ677H15.3" Ankyrin repeat domain containing 403 2005-07-18 2023-01-20 81573 ENSG00000118454 OTTHUMG00000009343 uc001dex.5 NM_030816 CCDS648 Q8N6S4 11230166 MGI:2139746 RGD:1595074 615125 HGNC:25374 "ENST00000370944.9|NM_030816.5" HGNC:4906 ANKRD13C-DT ANKRD13C divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 HHLA3 HERV-H LTR-associating 3 Divergent transcripts 1990 1999-09-07 2023-05-05 2023-05-05 2023-05-05 11147 ENSG00000197568 OTTHUMG00000009346 uc001dfb.4 AF126164 NR_027404 Q9XRX5 10444326 604372 HGNC:4906 HGNC:27880 ANKRD13D ankyrin repeat domain 13D protein-coding gene gene with protein product Approved 11q13.2 11q13.2 ankyrin repeat domain 13 family, member D Ankyrin repeat domain containing 403 2005-07-18 2005-08-09 2016-06-02 2023-03-15 338692 ENSG00000172932 OTTHUMG00000162929 uc001okd.3 AK027313 NM_207354 CCDS31616 Q6ZTN6 MGI:1915673 RGD:1309156 615126 HGNC:27880 "ENST00000511455.7|NM_207354.3" -HGNC:23471 ANKRD16 ankyrin repeat domain 16 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 DKFZP434N1511 Ankyrin repeat domain containing 403 2003-11-19 2023-01-20 54522 ENSG00000134461 OTTHUMG00000017610 uc010qat.3 AL137614 NM_019046 "CCDS31136|CCDS31137" Q6P6B7 MGI:2444796 RGD:1311405 618017 HGNC:23471 "ENST00000380094.10|NM_019046.3" +HGNC:23471 ANKRD16 ankyrin repeat domain 16 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 DKFZP434N1511 Ankyrin repeat domain containing 403 2003-11-19 2023-01-20 54522 ENSG00000134461 OTTHUMG00000017610 uc010qat.3 AL137614 NM_019046 "CCDS31137|CCDS31136" Q6P6B7 MGI:2444796 RGD:1311405 618017 HGNC:23471 "ENST00000380094.10|NM_019046.3" HGNC:23575 ANKRD17 ankyrin repeat domain 17 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "GTAR|KIAA0697|FLJ22206|NY-BR-16|MASK2" Ankyrin repeat domain containing 403 2003-11-25 2023-01-20 26057 ENSG00000132466 OTTHUMG00000160826 uc003hgp.4 AB014597 NM_032217 "CCDS68721|CCDS34003|CCDS34004" O75179 11165478 MGI:1932101 RGD:1562348 615929 HGNC:23575 "ENST00000358602.9|NM_032217.5" HGNC:55556 ANKRD17-DT ANKRD17 divergent transcript non-coding RNA RNA, long non-coding Approved 4q13.3 04q13.3 Divergent transcripts 1990 2021-04-07 2021-04-07 102724832 ENSG00000250220 XR_001741719 -HGNC:23643 ANKRD18A ankyrin repeat domain 18A protein-coding gene gene with protein product Approved 9p13.1 09p13.1 "KIAA2015|FLJ35740" Ankyrin repeat domain containing 403 2003-11-28 2023-01-20 253650 ENSG00000180071 OTTHUMG00000186349 uc004abg.5 AB095935 NM_001331100 "CCDS94409|CCDS55311" Q8IVF6 620259 469944 HGNC:23643 "ENST00000399703.6|NM_147195.4" +HGNC:23643 ANKRD18A ankyrin repeat domain 18A protein-coding gene gene with protein product Approved 9p13.1 09p13.1 "KIAA2015|FLJ35740" Ankyrin repeat domain containing 403 2003-11-28 2023-01-20 253650 ENSG00000180071 OTTHUMG00000186349 uc004abg.5 AB095935 NM_001331100 "CCDS55311|CCDS94409" Q8IVF6 620259 469944 HGNC:23643 "ENST00000399703.6|NM_147195.4" HGNC:23644 ANKRD18B ankyrin repeat domain 18B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 bA255A11.3 Ankyrin repeat domain containing 403 2004-06-02 2023-01-20 441459 ENSG00000230453 OTTHUMG00000019776 uc064spz.1 NM_001244752 CCDS94397 A2A2Z9 618930 HGNC:23644 "ENST00000684830.1|NM_001393611.1" HGNC:43601 ANKRD18CP ankyrin repeat domain 18C, pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 2011-11-23 2020-04-20 101926917 ENSG00000159712 OTTHUMG00000020318 NR_136286 PGOHUM00000304004 HGNC:43601 HGNC:28016 ANKRD18DP ankyrin repeat domain 18D, pseudogene pseudogene pseudogene Approved 3q29 03q29 2011-11-23 2023-03-15 348840 ENSG00000226435 OTTHUMG00000150228 BC042518 NR_003291 PGOHUM00000237916 HGNC:28016 @@ -1087,14 +1087,14 @@ HGNC:52329 ANKRD20A21P ankyrin repeat domain 20 family member A21, pseudogene ps HGNC:28321 ANKRD22 ankyrin repeat domain 22 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 MGC22805 Ankyrin repeat domain containing 403 2004-05-27 2023-01-20 118932 ENSG00000152766 OTTHUMG00000018699 uc001kfj.5 BC021671 NM_144590 CCDS7390 Q5VYY1 28667340 MGI:1277101 RGD:1307862 HGNC:28321 "ENST00000371930.5|NM_144590.3" HGNC:24470 ANKRD23 ankyrin repeat domain 23 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "DARP|FLJ32449|MARP3" diabetes related ankyrin repeat protein Ankyrin repeat domain containing 403 2004-01-12 2023-01-20 200539 ENSG00000163126 OTTHUMG00000130534 uc002sxa.4 NM_144994 CCDS2027 Q86SG2 12456686 MGI:1925571 RGD:1310398 610736 HGNC:24470 "ENST00000318357.9|NM_144994.8" HGNC:29424 ANKRD24 ankyrin repeat domain 24 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 KIAA1981 Ankyrin repeat domain containing 403 2004-02-02 2023-01-20 170961 ENSG00000089847 OTTHUMG00000181865 uc010dtt.1 AB075861 NM_133475 CCDS45925 Q8TF21 11853319 MGI:1890394 RGD:1311385 620234 HGNC:29424 "ENST00000318934.9|NM_001393985.1" -HGNC:29186 ANKRD26 ankyrin repeat domain containing 26 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 KIAA1074 THC2 "thrombocytopenia 2 (autosomal dominant)|ankyrin repeat domain 26" Ankyrin repeat domain containing 403 2004-02-04 2021-12-10 2023-01-20 22852 ENSG00000107890 OTTHUMG00000017851 uc009xku.2 AB028997 NM_014915 "CCDS41499|CCDS91225" Q9UPS8 "10470851|21211618|30824690" MGI:1917887 RGD:1310736 LRG_605|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_605.xml 610855 260545 HGNC:29186 "ENST00000376087.5|NM_014915.3" HGNC:29186 +HGNC:29186 ANKRD26 ankyrin repeat domain containing 26 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 KIAA1074 THC2 "thrombocytopenia 2 (autosomal dominant)|ankyrin repeat domain 26" Ankyrin repeat domain containing 403 2004-02-04 2021-12-10 2023-01-20 22852 ENSG00000107890 OTTHUMG00000017851 uc009xku.2 AB028997 NM_014915 "CCDS91225|CCDS41499" Q9UPS8 "10470851|21211618|30824690" MGI:1917887 RGD:1310736 LRG_605|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_605.xml 610855 260545 HGNC:29186 "ENST00000376087.5|NM_014915.3" HGNC:29186 HGNC:32955 ANKRD26P1 ankyrin repeat domain 26 pseudogene 1 pseudogene pseudogene Approved 16q11.2 16q11.2 FLJ43980 2009-06-12 2009-06-12 2014-11-19 124149 ENSG00000261239 OTTHUMG00000175593 BC070117 NR_026556 Q6NSI1 PGOHUM00000262118 HGNC:32955 HGNC:39687 ANKRD26P2 ankyrin repeat domain 26 pseudogene 2 pseudogene pseudogene Approved 13q13.3 13q13.3 2011-03-23 2011-03-23 646929 ENSG00000235550 OTTHUMG00000016762 NG_006568 PGOHUM00000248371 HGNC:39687 HGNC:39689 ANKRD26P3 ankyrin repeat domain 26 pseudogene 3 pseudogene pseudogene Approved 13q12.11 13q12.11 LINC00414 long intergenic non-protein coding RNA 414 2011-03-23 2014-11-19 100101938 ENSG00000237636 OTTHUMG00000016484 NR_027248 PGOHUM00000248306 HGNC:39689 HGNC:39690 ANKRD26P4 ankyrin repeat domain 26 pseudogene 4 pseudogene pseudogene Approved 13q12.3 13q12.3 2011-03-23 2014-11-19 100873882 ENSG00000229427 OTTHUMG00000016689 NG_032348 PGOHUM00000248560 HGNC:39690 HGNC:25310 ANKRD27 ankyrin repeat domain 27 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "FLJ00040|DKFZp434L0718|VARP" Vps9 domain and ankyrin-repeat-containing protein ankyrin repeat domain 27 (VPS9 domain) "Ankyrin repeat domain containing|VPS9 domain containing|Small nucleolar RNA protein coding host genes" "403|928|1835" 2004-02-11 2015-11-17 2023-01-20 84079 ENSG00000105186 OTTHUMG00000180225 uc002ntn.2 AK054561 NM_032139 CCDS32986 Q96NW4 16525121 MGI:2444103 RGD:1307106 618957 HGNC:25310 "ENST00000306065.9|NM_032139.3" -HGNC:29024 ANKRD28 ankyrin repeat domain 28 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "KIAA0379|PITK|PP6-ARS-A|PPP1R65|FAP79|CFAP79" "phosphatase interactor targeting K protein|protein phosphatase 6 ankyrin repeat subunit A|protein phosphatase 1, regulatory subunit 65" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Protein phosphatase 6 regulatory subunits|Cilia and flagella associated|MicroRNA protein coding host genes" "403|694|699|1491|1691" 2004-02-26 2023-01-20 23243 ENSG00000206560 OTTHUMG00000155379 uc003caj.3 AY367056 NM_015199 "CCDS93222|CCDS46769|CCDS74908" O15084 "9205841|19458477" MGI:2145661 RGD:1559931 611122 HGNC:29024 "ENST00000683139.1|NM_001349278.2" -HGNC:27110 ANKRD29 ankyrin repeat domain 29 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 FLJ25053 Ankyrin repeat domain containing 403 2004-04-30 2023-01-20 147463 ENSG00000154065 OTTHUMG00000131875 uc002kun.4 AK057782 NM_173505 "CCDS11879|CCDS77164" Q8N6D5 MGI:2687055 RGD:1587260 HGNC:27110 "ENST00000592179.6|NM_173505.4" +HGNC:29024 ANKRD28 ankyrin repeat domain 28 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "KIAA0379|PITK|PP6-ARS-A|PPP1R65|FAP79|CFAP79" "phosphatase interactor targeting K protein|protein phosphatase 6 ankyrin repeat subunit A|protein phosphatase 1, regulatory subunit 65" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Protein phosphatase 6 regulatory subunits|Cilia and flagella associated|MicroRNA protein coding host genes" "403|694|699|1491|1691" 2004-02-26 2023-01-20 23243 ENSG00000206560 OTTHUMG00000155379 uc003caj.3 AY367056 NM_015199 "CCDS46769|CCDS74908|CCDS93222" O15084 "9205841|19458477" MGI:2145661 RGD:1559931 611122 HGNC:29024 "ENST00000683139.1|NM_001349278.2" +HGNC:27110 ANKRD29 ankyrin repeat domain 29 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 FLJ25053 Ankyrin repeat domain containing 403 2004-04-30 2023-01-20 147463 ENSG00000154065 OTTHUMG00000131875 uc002kun.4 AK057782 NM_173505 "CCDS77164|CCDS11879" Q8N6D5 MGI:2687055 RGD:1587260 HGNC:27110 "ENST00000592179.6|NM_173505.4" HGNC:17234 ANKRD30A ankyrin repeat domain 30A protein-coding gene gene with protein product Approved 10p11.21 10p11.21 NY-BR-1 breast cancer antigen NY-BR-1 Ankyrin repeat domain containing 403 2004-05-12 2023-01-20 91074 ENSG00000148513 OTTHUMG00000017968 uc057sua.1 AF269087 NM_052997 CCDS7193 Q9BXX3 11280766 RGD:1309783 610856 HGNC:17234 "ENST00000361713.2|NM_052997.3" HGNC:24165 ANKRD30B ankyrin repeat domain 30B protein-coding gene gene with protein product Approved 18p11.21 18p11.21 NY-BR-1.1 "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2004-05-12 2023-03-15 374860 ENSG00000180777 OTTHUMG00000178841 uc060nsr.1 BC028407 NM_001367607 CCDS92441 Q9BXX2 11280766 616565 HGNC:24165 "ENST00000690538.1|NM_001367607.2" HGNC:35167 ANKRD30BL ankyrin repeat domain 30B like protein-coding gene gene with protein product Approved 2q21.2 02q21.2 "NCRNA00164|ANKRD30BP3" "non-protein coding RNA 164|ankyrin repeat domain 30B pseudogene 3" Ankyrin repeat domain containing 403 2008-10-24 2010-06-14 2016-08-11 2023-01-20 554226 ENSG00000163046 OTTHUMG00000153491 uc061nxe.1 NM_001358416 CCDS86883 A7E2S9 17114284 HGNC:35167 "ENST00000409867.6|NM_001358416.1" @@ -1102,7 +1102,7 @@ HGNC:19722 ANKRD30BP1 ankyrin repeat domain 30B pseudogene 1 pseudogene pseudoge HGNC:16620 ANKRD30BP2 ankyrin repeat domain 30B pseudogene 2 pseudogene pseudogene Approved 21q11.2 21q11.2 "CT85|CTSP-1" cancer/testis antigen 85 C21orf99 chromosome 21 open reading frame 99 2002-11-26 2010-06-14 2010-06-14 2023-03-15 149992 ENSG00000224309 OTTHUMG00000074164 AF427490 NR_026916 "12036297|17114284" HGNC:16620 HGNC:27873 ANKRD30BP3 ankyrin repeat domain 30B pseudogene 3 pseudogene pseudogene Approved 10q11.21 10q11.21 2013-01-03 2013-01-03 338579 ENSG00000230501 OTTHUMG00000018076 NR_033891 12477932 PGOHUM00000238762 HGNC:27873 HGNC:26853 ANKRD31 ankyrin repeat domain 31 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 FLJ40191 Ankyrin repeat domain containing 403 2004-06-04 2023-01-20 256006 ENSG00000145700 OTTHUMG00000162649 uc003kdo.2 AK097510 NM_001164443 "CCDS93735|CCDS47233" Q8N7Z5 MGI:5006716 RGD:2323520 618423 HGNC:26853 "ENST00000506364.6|NM_001372053.1" -HGNC:13788 ANKRD33 ankyrin repeat domain 33 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "DKFZp686O1689|PANKY" C12orf7 chromosome 12 open reading frame 7 Ankyrin repeat domain containing 403 2000-11-08 2005-01-07 2005-01-07 2023-01-20 341405 ENSG00000167612 OTTHUMG00000169506 uc001rzf.5 NM_182608 "CCDS44892|CCDS8815" Q7Z3H0 20026326 MGI:2443398 RGD:1586880 HGNC:13788 "ENST00000301190.11|NM_182608.4" +HGNC:13788 ANKRD33 ankyrin repeat domain 33 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "DKFZp686O1689|PANKY" C12orf7 chromosome 12 open reading frame 7 Ankyrin repeat domain containing 403 2000-11-08 2005-01-07 2005-01-07 2023-01-20 341405 ENSG00000167612 OTTHUMG00000169506 uc001rzf.5 NM_182608 "CCDS8815|CCDS44892" Q7Z3H0 20026326 MGI:2443398 RGD:1586880 HGNC:13788 "ENST00000301190.11|NM_182608.4" HGNC:35240 ANKRD33B ankyrin repeat domain 33B protein-coding gene gene with protein product Approved 5p15.2 05p15.2 Ankyrin repeat domain containing 403 2008-10-29 2023-01-20 651746 ENSG00000164236 OTTHUMG00000162050 uc021xwp.2 NM_001164440 CCDS47191 A6NCL7 MGI:1917904 RGD:1564227 HGNC:35240 "ENST00000296657.7|NM_001164440.2" HGNC:41298 ANKRD33B-AS1 ANKRD33B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 ANKRD33B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-08 2012-08-15 2014-11-19 100874247 ENSG00000250106 OTTHUMG00000162124 uc063ciy.1 ANKRD33B-AS1 HGNC:56293 ANKRD33BP1 ANKRD33B pseudogene 1 pseudogene pseudogene Approved 2q11.1 02q11.1 2022-08-24 2022-08-24 100419920 ENSG00000229689 NG_023709 PGOHUM00000298564 @@ -1130,10 +1130,10 @@ HGNC:29593 ANKRD37 ankyrin repeat domain 37 protein-coding gene gene with protei HGNC:28640 ANKRD39 ankyrin repeat domain 39 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 MGC41816 Ankyrin repeat domain containing 403 2005-05-27 2023-01-20 51239 ENSG00000213337 OTTHUMG00000130530 uc002sxd.5 BC031303 NM_016466 CCDS2028 Q53RE8 11042152 MGI:1914816 RGD:1559504 HGNC:28640 "ENST00000393537.5|NM_016466.6" HGNC:56783 ANKRD39P1 ANKRD39 pseudogene 1 pseudogene pseudogene Approved 6p21.2 06p21.2 2023-04-18 2023-04-18 100124373 ENSG00000218986 NG_054928 HGNC:28233 ANKRD40 ankyrin repeat domain 40 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 MGC15396 Ankyrin repeat domain containing 403 2005-05-29 2023-01-20 91369 ENSG00000154945 OTTHUMG00000162255 uc002iso.4 BC012978 NM_052855 CCDS11572 Q6AI12 12477932 MGI:1918702 RGD:1594678 HGNC:28233 "ENST00000285243.7|NM_052855.4" -HGNC:26080 ANKRD40CL ANKRD40 C-terminal like protein-coding gene gene with protein product Approved 17q21.33 17q21.33 FLJ20694 "C17orf73|LINC00483" "chromosome 17 open reading frame 73|long intergenic non-protein coding RNA 483" 2006-01-04 2018-05-17 2018-05-17 2023-03-15 55018 ENSG00000167117 OTTHUMG00000132429 uc060hmz.1 AK000701 NM_001358683 "CCDS92359|CCDS86616" Q53H64 MGI:5434049 RGD:41070601 LINC00483 HGNC:26080 "ENST00000450727.6|NM_001358683.3" -HGNC:26752 ANKRD42 ankyrin repeat domain 42 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "FLJ37874|SARP|PPP1R79" protein phosphatase 1, regulatory subunit 79 "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits" "403|694" 2005-05-29 2023-01-20 338699 ENSG00000137494 OTTHUMG00000167075 uc010rsv.2 AK095193 NM_182603 "CCDS73355|CCDS76457|CCDS76459|CCDS8265|CCDS76458|CCDS73356" Q8N9B4 MGI:1921095 RGD:1310789 619778 HGNC:26752 "ENST00000533342.6|NM_001300975.2" +HGNC:26080 ANKRD40CL ANKRD40 C-terminal like protein-coding gene gene with protein product Approved 17q21.33 17q21.33 FLJ20694 "C17orf73|LINC00483" "chromosome 17 open reading frame 73|long intergenic non-protein coding RNA 483" 2006-01-04 2018-05-17 2018-05-17 2023-03-15 55018 ENSG00000167117 OTTHUMG00000132429 uc060hmz.1 AK000701 NM_001358683 "CCDS86616|CCDS92359" Q53H64 MGI:5434049 RGD:41070601 LINC00483 HGNC:26080 "ENST00000450727.6|NM_001358683.3" +HGNC:26752 ANKRD42 ankyrin repeat domain 42 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "FLJ37874|SARP|PPP1R79" protein phosphatase 1, regulatory subunit 79 "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits" "403|694" 2005-05-29 2023-01-20 338699 ENSG00000137494 OTTHUMG00000167075 uc010rsv.2 AK095193 NM_182603 "CCDS73355|CCDS76458|CCDS76457|CCDS76459|CCDS8265|CCDS73356" Q8N9B4 MGI:1921095 RGD:1310789 619778 HGNC:26752 "ENST00000533342.6|NM_001300975.2" HGNC:55590 ANKRD42-DT ANKRD42 divergent transcript non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Divergent transcripts 1990 2021-04-28 2021-04-28 100506282 ENSG00000247137 NR_149008 -HGNC:25259 ANKRD44 ankyrin repeat domain 44 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 PP6-ARS-B protein phosphatase 6 ankyrin repeat subunit B "Ankyrin repeat domain containing|Protein phosphatase 6 regulatory subunits" "403|699" 2005-05-29 2023-01-20 91526 ENSG00000065413 OTTHUMG00000154411 uc021vuj.1 AK097086 NM_153697 "CCDS92920|CCDS74619|CCDS33355" Q8N8A2 18186651 MGI:3045243 RGD:1561893 HGNC:25259 "ENST00000282272.15|NM_001195144.2" +HGNC:25259 ANKRD44 ankyrin repeat domain 44 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 PP6-ARS-B protein phosphatase 6 ankyrin repeat subunit B "Ankyrin repeat domain containing|Protein phosphatase 6 regulatory subunits" "403|699" 2005-05-29 2023-01-20 91526 ENSG00000065413 OTTHUMG00000154411 uc021vuj.1 AK097086 NM_153697 "CCDS74619|CCDS92920|CCDS33355" Q8N8A2 18186651 MGI:3045243 RGD:1561893 HGNC:25259 "ENST00000282272.15|NM_001195144.2" HGNC:41090 ANKRD44-AS1 ANKRD44 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 Antisense RNAs 1987 2019-07-19 2019-07-19 101927596 ENSG00000231621 OTTHUMG00000154428 NR_135584 HGNC:41090 HGNC:55840 ANKRD44-DT ANKRD44 divergent transcript non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 Divergent transcripts 1990 2021-08-02 2021-08-02 105373824 ENSG00000225979 XR_001739847 HGNC:41477 ANKRD44-IT1 ANKRD44 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 ANKRD44 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2020-04-20 101927547 ENSG00000236977 OTTHUMG00000154409 uc032oos.1 NR_046837 ANKRD44-IT1 HGNC:41477 @@ -1146,8 +1146,8 @@ HGNC:54621 ANKRD49P3 ANKRD49 pseudogene 3 pseudogene pseudogene Approved 5q31.1 HGNC:54622 ANKRD49P4 ANKRD49 pseudogene 4 pseudogene pseudogene Approved 7q31.2 07q31.2 2019-10-17 2020-01-21 100130680 ENSG00000214684 NG_022544 HGNC:29223 ANKRD50 ankyrin repeat domain containing 50 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 KIAA1223 ankyrin repeat domain 50 Ankyrin repeat domain containing 403 2005-12-06 2021-12-10 2023-01-20 57182 ENSG00000151458 OTTHUMG00000161398 uc010inw.4 AB033049 NM_020337 "CCDS54802|CCDS34060" Q9ULJ7 27909246 MGI:2139777 RGD:1311665 619856 HGNC:29223 "ENST00000504087.6|NM_020337.3" HGNC:29223 HGNC:26614 ANKRD52 ankyrin repeat domain 52 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "FLJ34236|PP6-ARS-C" protein phosphatase 6 ankyrin repeat subunit C "Ankyrin repeat domain containing|Protein phosphatase 6 regulatory subunits" "403|699" 2006-01-17 2023-01-20 283373 ENSG00000139645 OTTHUMG00000170329 uc001skm.5 AK091555 NM_173595 CCDS44920 Q8NB46 18186651 MGI:2444029 RGD:1307124 HGNC:26614 "ENST00000267116.8|NM_173595.4" -HGNC:25691 ANKRD53 ankyrin repeat domain 53 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "FLJ12056|FLJ36160" Ankyrin repeat domain containing 403 2006-03-24 2023-01-20 79998 ENSG00000144031 OTTHUMG00000129712 uc002shk.5 BC035234 NM_024933 "CCDS1913|CCDS92774|CCDS46321" Q8N9V6 MGI:1922555 RGD:1561200 617009 HGNC:25691 "ENST00000360589.4|NM_001115116.2" -HGNC:25185 ANKRD54 ankyrin repeat domain 54 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 LIAR Lyn-interacting ankyrin repeat protein "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2006-07-06 2023-01-20 129138 ENSG00000100124 OTTHUMG00000150663 uc003auc.4 BC014641 NM_138797 "CCDS13959|CCDS87023" Q6NXT1 "15461802|22527282" MGI:2444209 RGD:1309552 613383 HGNC:25185 "ENST00000215941.9|NM_138797.4" +HGNC:25691 ANKRD53 ankyrin repeat domain 53 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "FLJ12056|FLJ36160" Ankyrin repeat domain containing 403 2006-03-24 2023-01-20 79998 ENSG00000144031 OTTHUMG00000129712 uc002shk.5 BC035234 NM_024933 "CCDS1913|CCDS46321|CCDS92774" Q8N9V6 MGI:1922555 RGD:1561200 617009 HGNC:25691 "ENST00000360589.4|NM_001115116.2" +HGNC:25185 ANKRD54 ankyrin repeat domain 54 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 LIAR Lyn-interacting ankyrin repeat protein "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2006-07-06 2023-01-20 129138 ENSG00000100124 OTTHUMG00000150663 uc003auc.4 BC014641 NM_138797 "CCDS87023|CCDS13959" Q6NXT1 "15461802|22527282" MGI:2444209 RGD:1309552 613383 HGNC:25185 "ENST00000215941.9|NM_138797.4" HGNC:39214 ANKRD54P1 ankyrin repeat domain 54 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 2010-11-24 2010-11-24 100419962 ENSG00000236442 OTTHUMG00000018075 NG_025432 PGOHUM00000238445 HGNC:39214 HGNC:25681 ANKRD55 ankyrin repeat domain 55 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FLJ11795 Ankyrin repeat domain containing 403 2006-07-12 2023-03-15 79722 ENSG00000164512 OTTHUMG00000162305 uc003jqu.4 AK021857 NM_024669 CCDS34161 Q3KP44 31620119 MGI:1924568 RGD:1307735 615189 355492 HGNC:25681 "ENST00000341048.9|NM_024669.3" HGNC:16217 ANKRD60 ankyrin repeat domain 60 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 bA196N14.3 C20orf86 chromosome 20 open reading frame 86 Ankyrin repeat domain containing 403 2001-07-17 2008-03-25 2008-03-25 2023-03-15 140731 ENSG00000124227 OTTHUMG00000032837 uc061xzo.1 AL354776 NM_001304369 CCDS77596 Q9BZ19 MGI:1917315 RGD:9091054 HGNC:16217 "ENST00000457363.2|NM_001304369.2" @@ -1156,30 +1156,30 @@ HGNC:35241 ANKRD62 ankyrin repeat domain 62 protein-coding gene gene with protei HGNC:42363 ANKRD62P1 ankyrin repeat domain 62 pseudogene 1 pseudogene pseudogene Approved 22q11.1 22q11.1 2011-07-04 2012-06-27 107080639 ENSG00000259271 OTTHUMG00000149993 NG_046683 PGOHUM00000246201 HGNC:42363 HGNC:42393 ANKRD62P1-PARP4P3 ANKRD62P1-PARP4P3 readthrough, transcribed pseudogene other readthrough Approved 22q11.1 22q11.1 VWFP1-ANKRD62P1-PARP4P3 ANKRD62P1-PARP4P3 readthrough (non-protein coding) 2011-07-07 2013-04-23 2015-07-30 23783 ENSG00000189295 OTTHUMG00000186061 uc062bfe.1 NR_040115 HGNC:42393 HGNC:40027 ANKRD63 ankyrin repeat domain 63 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 Ankyrin repeat domain containing 403 2011-05-05 2023-01-20 100131244 ENSG00000230778 OTTHUMG00000176892 uc021sjf.1 NM_001190479 CCDS53929 C9JTQ0 MGI:2686183 RGD:1595953 HGNC:40027 "ENST00000434396.2|NM_001190479.3" -HGNC:42950 ANKRD65 ankyrin repeat domain 65 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 Ankyrin repeat domain containing 403 2011-10-07 2023-01-20 441869 ENSG00000235098 OTTHUMG00000002911 uc010nyo.3 NM_001145210 "CCDS55558|CCDS57962|CCDS57963" E5RJM6 MGI:2685285 RGD:1588232 HGNC:42950 "ENST00000537107.6|NM_001145210.3" +HGNC:42950 ANKRD65 ankyrin repeat domain 65 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 Ankyrin repeat domain containing 403 2011-10-07 2023-01-20 441869 ENSG00000235098 OTTHUMG00000002911 uc010nyo.3 NM_001145210 "CCDS55558|CCDS57963|CCDS57962" E5RJM6 MGI:2685285 RGD:1588232 HGNC:42950 "ENST00000537107.6|NM_001145210.3" HGNC:55844 ANKRD65-AS1 ANKRD65 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Antisense RNAs 1987 2021-08-09 2021-08-09 105378585 ENSG00000225905 XR_946814 HGNC:44669 ANKRD66 ankyrin repeat domain 66 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 Ankyrin repeat domain containing 403 2012-12-11 2023-01-20 100287718 ENSG00000230062 OTTHUMG00000014791 uc011dwf.3 AK304342 NM_001162435 CCDS59024 B4E2M5 MGI:1925106 RGD:1560151 HGNC:44669 "ENST00000565422.3|NM_001162435.3" HGNC:20961 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A protein-coding gene gene with protein product Approved 6p21.31 06p21.31 KIAA0229 ANKS1 "ankyrin repeat and SAM domain containing 1|ankyrin repeat and sterile alpha motif domain containing 1" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2003-04-24 2006-02-17 2006-02-17 2023-01-20 23294 ENSG00000064999 OTTHUMG00000014559 uc003ojx.5 D86982 NM_015245 CCDS4798 Q92625 9039502 MGI:2446180 RGD:1309183 608994 HGNC:20961 "ENST00000360359.5|NM_015245.3" -HGNC:24600 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "EB-1|AIDA-1|cajalin-2|ANKS2" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2006-02-17 2023-01-20 56899 ENSG00000185046 OTTHUMG00000170308 uc001tge.3 AF145204 NM_020140 "CCDS86326|CCDS55867|CCDS55864|CCDS55870|CCDS55865|CCDS55869|CCDS55866|CCDS55872|CCDS55871|CCDS91740|CCDS55868" Q7Z6G8 "10490826|12415113" MGI:1924781 RGD:1565556 607815 HGNC:24600 "ENST00000683438.2|NM_001352186.2" HGNC:24600 +HGNC:24600 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "EB-1|AIDA-1|cajalin-2|ANKS2" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2006-02-17 2023-01-20 56899 ENSG00000185046 OTTHUMG00000170308 uc001tge.3 AF145204 NM_020140 "CCDS55871|CCDS55865|CCDS55870|CCDS55867|CCDS55866|CCDS55872|CCDS55869|CCDS91740|CCDS55868|CCDS55864|CCDS86326" Q7Z6G8 "10490826|12415113" MGI:1924781 RGD:1565556 607815 HGNC:24600 "ENST00000683438.2|NM_001352186.2" HGNC:24600 HGNC:29422 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA1977|FLJ32345|FLJ32767" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2006-02-17 2023-01-20 124401 ENSG00000168096 OTTHUMG00000129478 uc002cxj.3 AK057329 NM_133450 "CCDS10520|CCDS73820|CCDS76813" Q6ZW76 11853319 MGI:1919865 RGD:1305833 617310 469946 HGNC:29422 "ENST00000304283.9|NM_133450.4" HGNC:29422 HGNC:26795 ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "FLJ38819|HARP" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2006-02-17 2023-01-20 257629 ENSG00000175311 OTTHUMG00000177371 uc010bwp.2 AK096138 NM_145865 CCDS42130 Q8N8V4 MGI:1919324 RGD:1584204 609901 HGNC:26795 "ENST00000311620.7|NM_145865.3" HGNC:26724 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "FLJ36928|NPHP16" "SAMD6|ANKRD14" "sterile alpha motif domain containing 6|ankyrin repeat domain 14" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2003-12-19 2006-02-17 2006-02-17 2023-01-20 203286 ENSG00000165138 OTTHUMG00000020347 uc004ayu.4 AK094247 NM_173551 CCDS43856 Q68DC2 23793029 MGI:1922941 RGD:3334 615370 361188 HGNC:26724 "ENST00000353234.5|NM_173551.5" HGNC:26724 HGNC:29642 ANKUB1 ankyrin repeat and ubiquitin domain containing 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 C3orf16 chromosome 3 open reading frame 16 Ankyrin repeat domain containing 403 2004-07-29 2011-05-10 2011-05-10 2023-03-15 389161 ENSG00000206199 OTTHUMG00000159615 uc003exl.4 AK027233 NM_001144960 CCDS82857 A6NFN9 MGI:2685256 RGD:2320491 HGNC:29642 "ENST00000446160.7|NM_001144960.3" HGNC:25527 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 protein-coding gene gene with protein product Approved 2q35 02q35 "FLJ10415|ZNF744|Vms1" ankyrin repeat and zinc finger domain containing 1 "Zinc fingers C2H2-type|Ankyrin repeat domain containing" "28|403" 2006-02-22 2019-04-25 2023-01-20 55139 ENSG00000163516 OTTHUMG00000154533 uc002vkg.3 AF364318 NM_018089 "CCDS63129|CCDS42821" Q9H8Y5 "21896481|29632312" MGI:1098746 RGD:1359242 617541 HGNC:25527 "ENST00000323348.10|NM_018089.3" -HGNC:14082 ANLN anillin, actin binding protein protein-coding gene gene with protein product Approved 7p14.2 07p14.2 "ANILLIN|Scraps|scra" "anillin (Drosophila Scraps homolog), actin binding protein|anillin, actin binding protein (scraps homolog, Drosophila)" Pleckstrin homology domain containing 682 2001-01-03 2022-05-10 2023-01-20 54443 ENSG00000011426 OTTHUMG00000023143 uc003tff.4 AF273437 NM_018685 "CCDS64628|CCDS5447" Q9NQW6 10931866 MGI:1920174 RGD:1561367 616027 410859 HGNC:14082 "ENST00000265748.7|NM_018685.5" HGNC:14082 -HGNC:21625 ANO1 anoctamin 1 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "TAOS2|FLJ10261|DOG1" "ORAOV2|TMEM16A" "oral cancer overexpressed 2|transmembrane protein 16A|anoctamin 1, calcium activated chloride channel" Anoctamins 865 2003-10-16 2008-08-28 2016-03-07 2023-01-20 55107 ENSG00000131620 OTTHUMG00000167204 uc001opj.4 BC033036 NM_018043 "CCDS91524|CCDS44663" Q5XXA6 "15067359|18724360|24692353" MGI:2142149 RGD:1310786 610108 objectId:708 HGNC:21625 "ENST00000355303.10|NM_018043.7" +HGNC:14082 ANLN anillin, actin binding protein protein-coding gene gene with protein product Approved 7p14.2 07p14.2 "ANILLIN|Scraps|scra" "anillin (Drosophila Scraps homolog), actin binding protein|anillin, actin binding protein (scraps homolog, Drosophila)" Pleckstrin homology domain containing 682 2001-01-03 2022-05-10 2023-01-20 54443 ENSG00000011426 OTTHUMG00000023143 uc003tff.4 AF273437 NM_018685 "CCDS5447|CCDS64628" Q9NQW6 10931866 MGI:1920174 RGD:1561367 616027 410859 HGNC:14082 "ENST00000265748.7|NM_018685.5" HGNC:14082 +HGNC:21625 ANO1 anoctamin 1 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "TAOS2|FLJ10261|DOG1" "ORAOV2|TMEM16A" "oral cancer overexpressed 2|transmembrane protein 16A|anoctamin 1, calcium activated chloride channel" Anoctamins 865 2003-10-16 2008-08-28 2016-03-07 2023-01-20 55107 ENSG00000131620 OTTHUMG00000167204 uc001opj.4 BC033036 NM_018043 "CCDS44663|CCDS91524" Q5XXA6 "15067359|18724360|24692353" MGI:2142149 RGD:1310786 610108 objectId:708 HGNC:21625 "ENST00000355303.10|NM_018043.7" HGNC:40016 ANO1-AS1 ANO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 ANO1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-28 2012-08-15 2014-11-19 100873981 ENSG00000254902 OTTHUMG00000167205 uc058eru.1 ANO1-AS1 HGNC:1183 ANO2 anoctamin 2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 transmembrane protein 16B (eight membrane-spanning domains) "C12orf3|TMEM16B" "chromosome 12 open reading frame 3|transmembrane protein 16B|anoctamin 2, calcium activated chloride channel" Anoctamins 865 2000-08-24 2008-08-28 2016-03-07 2023-01-20 57101 ENSG00000047617 OTTHUMG00000168264 uc058kbl.1 AJ272204 NM_020373 "CCDS44807|CCDS91643|CCDS91642" Q9NQ90 "12739008|15067359|24692353" MGI:2387214 RGD:1591606 610109 HGNC:1183 "ENST00000682330.1|NM_001364791.2" -HGNC:14004 ANO3 anoctamin 3 protein-coding gene gene with protein product Approved 11p14.2 11p14.2 "GENX-3947|DYT23" "transmembrane protein 16C (eight membrane-spanning domains)|dystonia 23" "C11orf25|TMEM16C" "chromosome 11 open reading frame 25|transmembrane protein 16C" Anoctamins 865 2000-11-28 2008-08-28 2008-08-28 2023-01-20 63982 ENSG00000134343 OTTHUMG00000166096 uc001mqt.5 AJ300461 NM_031418 "CCDS81557|CCDS31447|CCDS91452" Q9BYT9 "12739008|15067359|23200863|24692353" MGI:3613666 RGD:1308873 610110 320756 HGNC:14004 "ENST00000256737.8|NM_031418.4" HGNC:14004 +HGNC:14004 ANO3 anoctamin 3 protein-coding gene gene with protein product Approved 11p14.2 11p14.2 "GENX-3947|DYT23" "transmembrane protein 16C (eight membrane-spanning domains)|dystonia 23" "C11orf25|TMEM16C" "chromosome 11 open reading frame 25|transmembrane protein 16C" Anoctamins 865 2000-11-28 2008-08-28 2008-08-28 2023-01-20 63982 ENSG00000134343 OTTHUMG00000166096 uc001mqt.5 AJ300461 NM_031418 "CCDS91452|CCDS31447|CCDS81557" Q9BYT9 "12739008|15067359|23200863|24692353" MGI:3613666 RGD:1308873 610110 320756 HGNC:14004 "ENST00000256737.8|NM_031418.4" HGNC:14004 HGNC:54190 ANO3-AS1 ANO3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p14.2 11p14.2 Antisense RNAs 1987 2019-03-08 2019-03-08 105376599 ENSG00000254819 NR_132968 HGNC:54190 -HGNC:23837 ANO4 anoctamin 4 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FLJ34221|FLJ34272|FLJ35277" TMEM16D transmembrane protein 16D Anoctamins 865 2003-12-17 2008-08-28 2008-08-28 2023-01-20 121601 ENSG00000151572 OTTHUMG00000170465 uc001thw.3 AK091540 NM_178826 "CCDS66445|CCDS31884" Q32M45 "12739008|15067359|24692353" MGI:2443344 RGD:1310252 610111 HGNC:23837 "ENST00000392977.8|NM_001286615.2" -HGNC:27337 ANO5 anoctamin 5 protein-coding gene gene with protein product Approved 11p14.3 11p14.3 GDD1 "TMEM16E|LGMD2L" "transmembrane protein 16E|limb girdle muscular dystrophy 2L (autosomal recessive)" Anoctamins 865 2004-04-07 2008-08-28 2008-08-28 2023-01-20 203859 ENSG00000171714 OTTHUMG00000166051 uc001mqi.3 AL833271 NM_213599 "CCDS31444|CCDS91450|CCDS91451" Q75V66 "15067359|20096397|24692353" MGI:3576659 RGD:1564265 LRG_868|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_868.xml 608662 120137 HGNC:27337 "ENST00000324559.9|NM_213599.3" HGNC:27337 -HGNC:25240 ANO6 anoctamin 6 protein-coding gene gene with protein product Approved 12q12 12q12 DKFZp313M0720 TMEM16F transmembrane protein 16F Anoctamins 865 2004-04-07 2008-08-28 2008-08-28 2023-01-20 196527 ENSG00000177119 OTTHUMG00000169564 uc001roo.4 AL832340 NM_001025356 "CCDS44866|CCDS44865|CCDS55819|CCDS91686|CCDS31782" Q4KMQ2 "15067359|24692353" MGI:2145890 RGD:1304765 LRG_877|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_877.xml 608663 258633 HGNC:25240 "ENST00000320560.13|NM_001025356.3" HGNC:25240 -HGNC:31677 ANO7 anoctamin 7 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "NGEP|PCANAP5L|IPCA-5" "PCANAP5|TMEM16G" transmembrane protein 16G Anoctamins 865 2004-10-06 2008-08-28 2008-08-28 2023-01-20 50636 ENSG00000146205 OTTHUMG00000151702 uc002wax.2 AY617079 NM_001001891 "CCDS46563|CCDS33423" Q6IWH7 "14981236|15375614|24692353" MGI:3052714 RGD:1302987 605096 HGNC:31677 "ENST00000674324.2|NM_001370694.2" +HGNC:23837 ANO4 anoctamin 4 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FLJ34221|FLJ34272|FLJ35277" TMEM16D transmembrane protein 16D Anoctamins 865 2003-12-17 2008-08-28 2008-08-28 2023-01-20 121601 ENSG00000151572 OTTHUMG00000170465 uc001thw.3 AK091540 NM_178826 "CCDS31884|CCDS66445" Q32M45 "12739008|15067359|24692353" MGI:2443344 RGD:1310252 610111 HGNC:23837 "ENST00000392977.8|NM_001286615.2" +HGNC:27337 ANO5 anoctamin 5 protein-coding gene gene with protein product Approved 11p14.3 11p14.3 GDD1 "TMEM16E|LGMD2L" "transmembrane protein 16E|limb girdle muscular dystrophy 2L (autosomal recessive)" Anoctamins 865 2004-04-07 2008-08-28 2008-08-28 2023-01-20 203859 ENSG00000171714 OTTHUMG00000166051 uc001mqi.3 AL833271 NM_213599 "CCDS31444|CCDS91451|CCDS91450" Q75V66 "15067359|20096397|24692353" MGI:3576659 RGD:1564265 LRG_868|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_868.xml 608662 120137 HGNC:27337 "ENST00000324559.9|NM_213599.3" HGNC:27337 +HGNC:25240 ANO6 anoctamin 6 protein-coding gene gene with protein product Approved 12q12 12q12 DKFZp313M0720 TMEM16F transmembrane protein 16F Anoctamins 865 2004-04-07 2008-08-28 2008-08-28 2023-01-20 196527 ENSG00000177119 OTTHUMG00000169564 uc001roo.4 AL832340 NM_001025356 "CCDS91686|CCDS44865|CCDS31782|CCDS55819|CCDS44866" Q4KMQ2 "15067359|24692353" MGI:2145890 RGD:1304765 LRG_877|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_877.xml 608663 258633 HGNC:25240 "ENST00000320560.13|NM_001025356.3" HGNC:25240 +HGNC:31677 ANO7 anoctamin 7 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "NGEP|PCANAP5L|IPCA-5" "PCANAP5|TMEM16G" transmembrane protein 16G Anoctamins 865 2004-10-06 2008-08-28 2008-08-28 2023-01-20 50636 ENSG00000146205 OTTHUMG00000151702 uc002wax.2 AY617079 NM_001001891 "CCDS33423|CCDS46563" Q6IWH7 "14981236|15375614|24692353" MGI:3052714 RGD:1302987 605096 HGNC:31677 "ENST00000674324.2|NM_001370694.2" HGNC:32248 ANO7L1 anoctamin 7 like 1 (pseudogene) pseudogene pseudogene Approved 1p36.13 01p36.13 "TMEM16M|C1orf224|ANO7P1" "transmembrane protein 16M|chromosome 1 open reading frame 224|anoctamin 7 pseudogene 1|anoctamin 7 like 1" 2005-09-21 2016-07-19 2019-06-20 2020-04-20 101927546 ENSG00000237276 OTTHUMG00000002221 XR_007065488 PGOHUM00000243911 HGNC:32248 HGNC:29329 ANO8 anoctamin 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KIAA1623|TMEM16H" "KIAA1623|transmembrane protein 16H" Anoctamins 865 2004-02-12 2008-08-28 2008-08-28 2023-01-20 57719 ENSG00000074855 OTTHUMG00000182665 uc002ngf.2 AB046843 NM_020959 CCDS32949 Q9HCE9 "10997877|24692353" MGI:2687327 RGD:1563946 610216 HGNC:29329 "ENST00000159087.7|NM_020959.3" HGNC:20679 ANO9 anoctamin 9 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 PIG5 "TP53I5|TMEM16J" "tumor protein p53 inducible protein 5|transmembrane protein 16J" Anoctamins 865 2003-03-20 2008-08-28 2008-08-28 2023-01-20 338440 ENSG00000185101 OTTHUMG00000165446 uc001lpi.3 U33271 NM_001012302 CCDS31326 A1A5B4 "9305847|24692353" MGI:1918595 RGD:1560565 619963 HGNC:20679 "ENST00000332826.7|NM_001012302.3" -HGNC:25519 ANO10 anoctamin 10 protein-coding gene gene with protein product Approved 3p22.1-p21.33 03p22.1-p21.33 "FLJ10375|MGC47890|SCAR10" TMEM16K transmembrane protein 16K Anoctamins 865 2005-09-21 2008-08-28 2008-08-28 2023-01-20 55129 ENSG00000160746 OTTHUMG00000133044 uc003cmv.4 AL832508 NM_018075 "CCDS56248|CCDS56247|CCDS2710|CCDS56250|CCDS56249" Q9NW15 24692353 MGI:2143103 RGD:1308260 613726 284296 HGNC:25519 "ENST00000292246.8|NM_018075.5" HGNC:25519 +HGNC:25519 ANO10 anoctamin 10 protein-coding gene gene with protein product Approved 3p22.1-p21.33 03p22.1-p21.33 "FLJ10375|MGC47890|SCAR10" TMEM16K transmembrane protein 16K Anoctamins 865 2005-09-21 2008-08-28 2008-08-28 2023-01-20 55129 ENSG00000160746 OTTHUMG00000133044 uc003cmv.4 AL832508 NM_018075 "CCDS56247|CCDS56250|CCDS56249|CCDS56248|CCDS2710" Q9NW15 24692353 MGI:2143103 RGD:1308260 613726 284296 HGNC:25519 "ENST00000292246.8|NM_018075.5" HGNC:25519 HGNC:6211 ANOS1 anosmin 1 protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 "KALIG-1|WFDC19" "anosmin-1|WAP four-disulfide core domain 19|Adhesion molecule-like, X-linked|Kallmann syndrome interval gene 1" "KAL|ADMLX|KAL1" Kallmann syndrome 1 sequence "WAP four-disulfide core domain containing|Fibronectin type III domain containing" "361|555" 1986-01-01 2015-04-10 2015-04-10 2023-01-20 3730 ENSG00000011201 OTTHUMG00000021107 NM_000216 CCDS14130 P23352 11463336 RGD:2318138 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KAL1 300836 122751 I17.004 HGNC:6211 "ENST00000262648.8|NM_000216.4" HGNC:6211 HGNC:6214 ANOS2P anosmin 2, pseudogene pseudogene pseudogene Approved Yq11.221 Yq11.221 KAL-Y "ADMLY|KALP" Kallmann syndrome sequence pseudogene 1991-08-19 2015-04-10 2015-04-10 2018-05-25 3734 ENSG00000241859 OTTHUMG00000036365 X68743 NG_001153 "1303285|23721716" PGOHUM00000233962 HGNC:6214 HGNC:13233 ANP32A acidic nuclear phosphoprotein 32 family member A protein-coding gene gene with protein product Approved 15q23 15q23 "LANP|PP32|I1PP2A|PHAPI|MAPM|mapmodulin" C15orf1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member A "ANP32 acidic nuclear phosphoproteins|INHAT complex|SET complex|MicroRNA protein coding host genes" "27|1658|1659|1691" 2002-02-13 2015-11-05 2023-01-20 8125 ENSG00000140350 OTTHUMG00000154502 uc002arl.4 AF025684 NM_006305 CCDS45292 P39687 "8970164|9144194" MGI:108447 RGD:11508551 600832 HGNC:13233 "ENST00000465139.6|NM_006305.4" @@ -1191,11 +1191,11 @@ HGNC:38552 ANP32BP2 acidic nuclear phosphoprotein 32 family member B pseudogene HGNC:44089 ANP32BP3 acidic nuclear phosphoprotein 32 family member B pseudogene 3 pseudogene pseudogene Approved 15q25.1 15q25.1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 3 2012-06-20 2015-11-05 2015-11-05 100652899 ENSG00000259461 OTTHUMG00000172264 NG_032808 PGOHUM00000258880 HGNC:44089 HGNC:16675 ANP32CP acidic nuclear phosphoprotein 32 family member C, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 PP32R1 ANP32C "acidic (leucine-rich) nuclear phosphoprotein 32 family, member C|acidic nuclear phosphoprotein 32 family member C" ANP32 acidic nuclear phosphoproteins 27 2002-02-13 2023-03-27 2023-03-27 2023-05-22 23520 ENSG00000248546 OTTHUMG00000161205 AF008216 NG_074974 O43423 "10086381|10400610" MGI:108447 606877 HGNC:16675 HGNC:16676 ANP32D acidic nuclear phosphoprotein 32 family member D protein-coding gene gene with protein product Approved 12q13.11 12q13.11 PP32R2 pp32 related 2 acidic (leucine-rich) nuclear phosphoprotein 32 family, member D ANP32 acidic nuclear phosphoproteins 27 2002-02-13 2015-11-05 2023-01-20 23519 ENSG00000139223 OTTHUMG00000162681 uc010slt.3 U71084 NM_012404 CCDS31788 O95626 "10086381|10400610" MGI:3525200 606878 HGNC:16676 "ENST00000266594.4|NM_012404.3" -HGNC:16673 ANP32E acidic nuclear phosphoprotein 32 family member E protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "LANPL|MGC5350|LANP-L" acidic (leucine-rich) nuclear phosphoprotein 32 family, member E ANP32 acidic nuclear phosphoproteins 27 2003-04-15 2015-11-05 2023-01-20 81611 ENSG00000143401 OTTHUMG00000012547 uc031uya.1 AK092672 NM_030920 "CCDS44215|CCDS946|CCDS60245|CCDS44214" Q9BTT0 12438741 MGI:1913721 RGD:1310611 609611 HGNC:16673 "ENST00000583931.6|NM_030920.5" +HGNC:16673 ANP32E acidic nuclear phosphoprotein 32 family member E protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "LANPL|MGC5350|LANP-L" acidic (leucine-rich) nuclear phosphoprotein 32 family, member E ANP32 acidic nuclear phosphoproteins 27 2003-04-15 2015-11-05 2023-01-20 81611 ENSG00000143401 OTTHUMG00000012547 uc031uya.1 AK092672 NM_030920 "CCDS60245|CCDS44215|CCDS44214|CCDS946" Q9BTT0 12438741 MGI:1913721 RGD:1310611 609611 HGNC:16673 "ENST00000583931.6|NM_030920.5" HGNC:500 ANPEP alanyl aminopeptidase, membrane protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "LAP1|gp150|p150|AP-N|hAPN" "aminopeptidase N|aminopeptidase M|microsomal aminopeptidase|membrane alanyl aminopeptidase" "CD13|PEPN" alanyl (membrane) aminopeptidase "Aminopeptidases|CD molecules|M1 metallopeptidases" "104|471|1437" 1989-02-28 2016-01-06 2023-01-20 290 ENSG00000166825 OTTHUMG00000149814 uc002bop.5 M22324 NM_001150 CCDS10356 P15144 "2428842|1977688" MGI:5000466 RGD:2991 151530 M01.001 objectId:1560 CD13 3.4.11.2 HGNC:500 "ENST00000300060.7|NM_001150.3" HGNC:14152 ANTKMT adenine nucleotide translocase lysine methyltransferase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC2494 "C16orf24|FAM173A" "chromosome 16 open reading frame 24|family with sequence similarity 173, member A|family with sequence similarity 173 member A" 7BS protein lysine methyltransferases 2056 2000-12-21 2019-06-24 2019-06-24 2023-01-20 65990 ENSG00000103254 OTTHUMG00000121177 uc002cje.5 BC002624 NM_023933 "CCDS10423|CCDS59254" Q9BQD7 31213526 MGI:2384888 RGD:1306126 618566 HGNC:14152 "ENST00000569529.6|NM_023933.3" -HGNC:21014 ANTXR1 ANTXR cell adhesion molecule 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "TEM8|FLJ21776|FLJ10601|ATR" "anthrax toxin receptor|tumor endothelial marker 8 precursor" anthrax toxin receptor 1 MicroRNA protein coding host genes 1691 2003-08-27 2018-05-10 2023-01-20 84168 ENSG00000169604 OTTHUMG00000129575 uc002sfg.4 AF421380 NM_032208 "CCDS92773|CCDS46314|CCDS1892|CCDS46313" Q9H6X2 "10947988|11559528" MGI:1916788 RGD:1307144 606410 353211 HGNC:21014 "ENST00000303714.9|NM_032208.3" HGNC:21014 -HGNC:21732 ANTXR2 ANTXR cell adhesion molecule 2 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "CMG2|CMG-2|FLJ31074" capillary morphogenesis protein 2 anthrax toxin receptor 2 2003-09-25 2018-05-10 2023-01-20 118429 ENSG00000163297 OTTHUMG00000151982 uc003hly.5 AY040326 NM_058172 "CCDS47085|CCDS47086|CCDS68733" P58335 "11683410|12700348" MGI:1919164 RGD:1561294 608041 121369 HGNC:21732 "ENST00000403729.7|NM_058172.6" HGNC:21732 +HGNC:21014 ANTXR1 ANTXR cell adhesion molecule 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "TEM8|FLJ21776|FLJ10601|ATR" "anthrax toxin receptor|tumor endothelial marker 8 precursor" anthrax toxin receptor 1 MicroRNA protein coding host genes 1691 2003-08-27 2018-05-10 2023-01-20 84168 ENSG00000169604 OTTHUMG00000129575 uc002sfg.4 AF421380 NM_032208 "CCDS46313|CCDS92773|CCDS46314|CCDS1892" Q9H6X2 "10947988|11559528" MGI:1916788 RGD:1307144 606410 353211 HGNC:21014 "ENST00000303714.9|NM_032208.3" HGNC:21014 +HGNC:21732 ANTXR2 ANTXR cell adhesion molecule 2 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "CMG2|CMG-2|FLJ31074" capillary morphogenesis protein 2 anthrax toxin receptor 2 2003-09-25 2018-05-10 2023-01-20 118429 ENSG00000163297 OTTHUMG00000151982 uc003hly.5 AY040326 NM_058172 "CCDS47086|CCDS68733|CCDS47085" P58335 "11683410|12700348" MGI:1919164 RGD:1561294 608041 121369 HGNC:21732 "ENST00000403729.7|NM_058172.6" HGNC:21732 HGNC:27277 ANTXRL ANTXR like protein-coding gene gene with protein product Approved 10q11.22 10q11.22 anthrax toxin receptor like 2005-06-03 2018-05-10 2023-01-20 195977 ENSG00000274209 OTTHUMG00000188318 uc031wet.2 NM_001278688 CCDS60524 A6NF34 MGI:1925726 RGD:1563190 HGNC:27277 "ENST00000620264.5|NM_001278688.3" HGNC:45004 ANTXRLP1 ANTXR like pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 anthrax toxin receptor-like pseudogene 1 2013-01-07 2018-05-10 2018-05-10 100996567 ENSG00000263482 OTTHUMG00000188317 NR_103827 PGOHUM00000289841 HGNC:45004 HGNC:533 ANXA1 annexin A1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "ANX1|LPC1" "Annexins|Receptor ligands" "404|542" 2001-06-22 2023-01-20 301 ENSG00000135046 OTTHUMG00000020016 uc004ajf.2 X05908 NM_000700 CCDS6645 P04083 2936963 MGI:96819 RGD:2118 151690 ligandId:1031 HGNC:533 "ENST00000257497.11|NM_000700.3" @@ -1209,70 +1209,70 @@ HGNC:48996 ANXA2R-OT1 ANXA2R overlapping transcript 1 non-coding RNA RNA, long n HGNC:541 ANXA3 annexin A3 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 ANX3 Annexins 404 1990-11-07 2023-01-20 306 ENSG00000138772 OTTHUMG00000130198 uc003hld.4 M63310 NM_005139 CCDS3584 P12429 1830024 MGI:1201378 RGD:2119 106490 3.1.4.43 HGNC:541 "ENST00000264908.11|NM_005139.3" HGNC:542 ANXA4 annexin A4 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 ANX4 Annexins 404 1992-02-13 2023-01-20 307 ENSG00000196975 OTTHUMG00000129649 uc002sfr.6 M82809 NM_001153 "CCDS82459|CCDS1894" P09525 1346776 MGI:88030 RGD:621171 106491 HGNC:542 "ENST00000394295.6|NM_001153.5" HGNC:543 ANXA5 annexin A5 protein-coding gene gene with protein product Approved 4q27 04q27 "CPB-I|PAP-I|VAC-alph|RPRGL3" "annexin V|Calphobindin I|Placental anticoagulant protein I|Vascular anticoagulant-alpha|endonexin II" "ENX2|ANX5" Annexins 404 1989-05-31 2023-01-20 308 ENSG00000164111 OTTHUMG00000133034 uc003idv.5 U05770 NM_001154 CCDS3720 P08758 "2960376|14678296" MGI:106008 RGD:2120 LRG_606|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_606.xml 131230 HGNC:543 "ENST00000296511.10|NM_001154.4" HGNC:543 -HGNC:544 ANXA6 annexin A6 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 ANX6 Annexins 404 1990-02-01 2023-01-20 309 ENSG00000197043 OTTHUMG00000164179 uc003ltl.3 J03578 NM_001155 "CCDS47315|CCDS54941|CCDS47314" P08133 3258820 MGI:88255 RGD:621172 114070 HGNC:544 "ENST00000354546.10|NM_001155.5" +HGNC:544 ANXA6 annexin A6 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 ANX6 Annexins 404 1990-02-01 2023-01-20 309 ENSG00000197043 OTTHUMG00000164179 uc003ltl.3 J03578 NM_001155 "CCDS47314|CCDS54941|CCDS47315" P08133 3258820 MGI:88255 RGD:621172 114070 HGNC:544 "ENST00000354546.10|NM_001155.5" HGNC:545 ANXA7 annexin A7 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 ANX7 Annexins 404 1994-07-20 2023-01-20 310 ENSG00000138279 OTTHUMG00000018463 uc001jua.3 J04543 NM_001156 "CCDS7326|CCDS7325" P20073 7515686 MGI:88031 RGD:621173 186360 HGNC:545 "ENST00000372921.10|NM_001156.5" -HGNC:546 ANXA8 annexin A8 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 ANX8 Annexins 404 1991-08-12 2023-01-20 653145 ENSG00000265190 OTTHUMG00000188209 uc001jev.5 M81844 NM_001040084 "CCDS73122|CCDS73123|CCDS73121" P13928 1364010 MGI:1201374 RGD:1307719 602396 HGNC:546 "ENST00000585281.6|NM_001040084.3" -HGNC:23334 ANXA8L1 annexin A8 like 1 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "bA301J7.3|bA145E20.2" ANXA8L2 annexin A8-like 2 Annexins 404 2004-06-02 2017-02-20 2023-01-20 728113 ENSG00000264230 OTTHUMG00000018131 uc031wew.2 NM_001098845 "CCDS73099|CCDS73097|CCDS73098" Q5VT79 MGI:1201374 HGNC:23334 "ENST00000619162.5|NM_001098845.3" +HGNC:546 ANXA8 annexin A8 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 ANX8 Annexins 404 1991-08-12 2023-01-20 653145 ENSG00000265190 OTTHUMG00000188209 uc001jev.5 M81844 NM_001040084 "CCDS73123|CCDS73121|CCDS73122" P13928 1364010 MGI:1201374 RGD:1307719 602396 HGNC:546 "ENST00000585281.6|NM_001040084.3" +HGNC:23334 ANXA8L1 annexin A8 like 1 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "bA301J7.3|bA145E20.2" ANXA8L2 annexin A8-like 2 Annexins 404 2004-06-02 2017-02-20 2023-01-20 728113 ENSG00000264230 OTTHUMG00000018131 uc031wew.2 NM_001098845 "CCDS73098|CCDS73097|CCDS73099" Q5VT79 MGI:1201374 HGNC:23334 "ENST00000619162.5|NM_001098845.3" HGNC:547 ANXA9 annexin A9 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 ANX31 Annexins 404 1998-12-11 2023-01-20 8416 ENSG00000143412 OTTHUMG00000035063 uc001ewa.3 AJ009985 NM_003568 CCDS975 O76027 "9742942|9931420" MGI:1923711 RGD:1587550 603319 HGNC:547 "ENST00000368947.9|NM_003568.3" HGNC:534 ANXA10 annexin A10 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 ANX14 Annexins 404 1999-09-17 2023-01-20 11199 ENSG00000109511 OTTHUMG00000161275 uc003irm.4 AJ238979 NM_007193 CCDS34096 Q9UJ72 10458909 MGI:1347090 RGD:1560956 608008 HGNC:534 "ENST00000359299.8|NM_007193.5" HGNC:535 ANXA11 annexin A11 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 annexin XI ANX11 Annexins 404 1994-05-17 2023-01-20 311 ENSG00000122359 OTTHUMG00000018604 uc001kbr.2 L19605 NM_145869 "CCDS60576|CCDS7364" P50995 "7508441|9503022" MGI:108481 RGD:1309911 602572 HGNC:535 "ENST00000422982.8|NM_145868.2" HGNC:535 HGNC:536 ANXA13 annexin A13 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 ANX13 Annexins 404 1998-05-15 2023-01-20 312 ENSG00000104537 OTTHUMG00000164987 uc003yqu.4 Z11502 NM_004306 "CCDS47917|CCDS34939" P27216 9503022 MGI:1917037 RGD:1307545 602573 HGNC:536 "ENST00000419625.6|NM_004306.4" -HGNC:548 AOAH acyloxyacyl hydrolase protein-coding gene gene with protein product Approved 7p14.2 07p14.2 acyloxyacyl hydrolase (neutrophil) 1992-09-16 2015-11-26 2023-01-20 313 ENSG00000136250 OTTHUMG00000023566 uc032zjw.2 BC025698 NM_001637 "CCDS75584|CCDS5448|CCDS55102" P28039 1883828 MGI:1350928 RGD:1560514 102593 objectId:2873 3.1.1.77 HGNC:548 "ENST00000617537.5|NM_001637.4" +HGNC:548 AOAH acyloxyacyl hydrolase protein-coding gene gene with protein product Approved 7p14.2 07p14.2 acyloxyacyl hydrolase (neutrophil) 1992-09-16 2015-11-26 2023-01-20 313 ENSG00000136250 OTTHUMG00000023566 uc032zjw.2 BC025698 NM_001637 "CCDS5448|CCDS55102|CCDS75584" P28039 1883828 MGI:1350928 RGD:1560514 102593 objectId:2873 3.1.1.77 HGNC:548 "ENST00000617537.5|NM_001637.4" HGNC:41307 AOAH-IT1 AOAH intronic transcript 1 non-coding RNA RNA, long non-coding Approved 7p14.2 07p14.2 AOAH intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2018-09-21 100874264 ENSG00000230539 OTTHUMG00000154938 uc031swz.1 NR_046764 AOAH-IT1 HGNC:41307 -HGNC:80 AOC1 amine oxidase copper containing 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 DAO diamine oxidase "ABP1|ABP" amiloride binding protein 1 (amine oxidase (copper-containing)) 1991-05-06 2013-06-19 2019-01-18 2023-01-20 26 ENSG00000002726 OTTHUMG00000158306 AK092514 NM_001091 "CCDS64797|CCDS43679" P19801 8182053 MGI:1923757 RGD:61296 104610 1.4.3.22 HGNC:80 "ENST00000360937.9|NM_001091.4" -HGNC:549 AOC2 amine oxidase copper containing 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RAO|DAO2" amine oxidase, copper containing 2 (retina-specific) 1996-10-26 2019-01-18 2023-01-20 314 ENSG00000131480 OTTHUMG00000180655 uc002ibu.5 AF081363 "NM_009590|NM_001158" "CCDS11443|CCDS45690" O75106 "9119395|9722954" MGI:2668431 RGD:727941 602268 1.4.3.21 HGNC:549 "ENST00000253799.8|NM_009590.4" +HGNC:80 AOC1 amine oxidase copper containing 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 DAO diamine oxidase "ABP1|ABP" amiloride binding protein 1 (amine oxidase (copper-containing)) 1991-05-06 2013-06-19 2019-01-18 2023-01-20 26 ENSG00000002726 OTTHUMG00000158306 AK092514 NM_001091 "CCDS43679|CCDS64797" P19801 8182053 MGI:1923757 RGD:61296 104610 1.4.3.22 HGNC:80 "ENST00000360937.9|NM_001091.4" +HGNC:549 AOC2 amine oxidase copper containing 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RAO|DAO2" amine oxidase, copper containing 2 (retina-specific) 1996-10-26 2019-01-18 2023-01-20 314 ENSG00000131480 OTTHUMG00000180655 uc002ibu.5 AF081363 "NM_009590|NM_001158" "CCDS45690|CCDS11443" O75106 "9119395|9722954" MGI:2668431 RGD:727941 602268 1.4.3.21 HGNC:549 "ENST00000253799.8|NM_009590.4" HGNC:550 AOC3 amine oxidase copper containing 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "VAP1|HPAO|VAP-1" vascular adhesion protein 1 1998-12-03 2019-01-18 2023-01-20 8639 ENSG00000131471 OTTHUMG00000180656 uc002ibv.6 AF067406 NM_003734 "CCDS62198|CCDS11444|CCDS74071" Q16853 "9653080|8972912" MGI:1306797 RGD:62058 603735 objectId:2767 1.4.3.21 HGNC:550 "ENST00000308423.7|NM_003734.4" HGNC:48869 AOC4P amine oxidase copper containing 4, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 UPAT ubiquitin-like plant homeodomain (PHD) and really interesting new gene (RING) finger domain-containing protein 1 (UHRF1) protein associated transcript 2013-06-19 2019-01-18 2019-01-18 90586 ENSG00000260105 OTTHUMG00000176596 NR_002773 "20013028|26160837" PGOHUM00000237400 HGNC:48869 -HGNC:1361 AOPEP aminopeptidase O (putative) protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "C90RF3|FLJ14675|APO|AP-O" C9orf3 chromosome 9 open reading frame 3 "M1 metallopeptidases|MicroRNA protein coding host genes" "1437|1691" 1999-01-28 2019-01-03 2019-01-03 2023-01-20 84909 ENSG00000148120 OTTHUMG00000020276 uc004ava.3 AF043896 NM_032823 "CCDS55327|CCDS55328|CCDS6713" Q8N6M6 15687497 MGI:1919311 RGD:1309592 619600 M01.028 objectId:1561 HGNC:1361 "ENST00000375315.8|NM_001193329.3" +HGNC:1361 AOPEP aminopeptidase O (putative) protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "C90RF3|FLJ14675|APO|AP-O" C9orf3 chromosome 9 open reading frame 3 "M1 metallopeptidases|MicroRNA protein coding host genes" "1437|1691" 1999-01-28 2019-01-03 2019-01-03 2023-01-20 84909 ENSG00000148120 OTTHUMG00000020276 uc004ava.3 AF043896 NM_032823 "CCDS55327|CCDS6713|CCDS55328" Q8N6M6 15687497 MGI:1919311 RGD:1309592 619600 M01.028 objectId:1561 HGNC:1361 "ENST00000375315.8|NM_001193329.3" HGNC:553 AOX1 aldehyde oxidase 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "AO|AOH1" 1997-04-16 2023-01-20 316 ENSG00000138356 OTTHUMG00000154536 uc002uvx.4 AF017060 NM_001159 CCDS33360 Q06278 7570184 MGI:88035 RGD:620528 602841 469948 objectId:3186 HGNC:553 "ENST00000374700.7|NM_001159.4" HGNC:18450 AOX2P aldehyde oxidase 2, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 AOH2 AOX2 aldehyde oxidase 2 2002-04-03 2008-05-22 2019-07-30 2020-08-14 344454 ENSG00000243478 OTTHUMG00000154538 AI187776 NR_001557 "11562361|23263164" MGI:3529596 HGNC:18450 HGNC:19049 AOX3P aldehyde oxidase 3, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 AOH1 2013-09-26 2013-09-26 2020-08-14 107126360 ENSG00000244301 OTTHUMG00000154534 NG_046634 "10893244|23263164" MGI:1918974 HGNC:19049 HGNC:53766 AOX3P-AOX2P AOX3P-AOX2P readthrough, transcribed pseudogene other readthrough Approved 2q33.1 02q33.1 2017-10-25 2017-10-25 107161151 ENSG00000284084 OTTHUMG00000191899 NR_135011 HGNC:53766 -HGNC:28808 AP1AR adaptor related protein complex 1 associated regulatory protein protein-coding gene gene with protein product Approved 4q25 04q25 "PRO0971|2C18|gamma-BAR" gamma1-adaptin brefeldin A resistance C4orf16 "chromosome 4 open reading frame 16|adaptor-related protein complex 1 associated regulatory protein" 2004-09-15 2009-09-25 2015-12-17 2023-01-20 55435 ENSG00000138660 OTTHUMG00000132849 uc003iaj.6 AL136628 NM_018569 "CCDS3696|CCDS47125" Q63HQ0 15775984 MGI:2384822 RGD:1311435 610851 HGNC:28808 "ENST00000274000.10|NM_018569.6" +HGNC:28808 AP1AR adaptor related protein complex 1 associated regulatory protein protein-coding gene gene with protein product Approved 4q25 04q25 "PRO0971|2C18|gamma-BAR" gamma1-adaptin brefeldin A resistance C4orf16 "chromosome 4 open reading frame 16|adaptor-related protein complex 1 associated regulatory protein" 2004-09-15 2009-09-25 2015-12-17 2023-01-20 55435 ENSG00000138660 OTTHUMG00000132849 uc003iaj.6 AL136628 NM_018569 "CCDS47125|CCDS3696" Q63HQ0 15775984 MGI:2384822 RGD:1311435 610851 HGNC:28808 "ENST00000274000.10|NM_018569.6" HGNC:55391 AP1AR-DT AP1AR divergent transcript non-coding RNA RNA, long non-coding Approved 4q25 04q25 Divergent transcripts 1990 2020-12-17 2020-12-17 119863862 ENSG00000260526 -HGNC:554 AP1B1 adaptor related protein complex 1 subunit beta 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "BAM22|AP105A" "ADTB1|CLAPB2" "ADTB1, CLAPB2|adaptor related protein complex 1 beta 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 1|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1493|1671|1691|1835" 2000-09-01 2018-04-23 2023-01-20 162 ENSG00000100280 OTTHUMG00000151109 uc062cxt.1 L13939 NM_001127 "CCDS54515|CCDS13855|CCDS13856" Q10567 "7987321|8812422" MGI:1096368 RGD:2064 600157 HGNC:554 "ENST00000357586.7|NM_001127.4" HGNC:554 +HGNC:554 AP1B1 adaptor related protein complex 1 subunit beta 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "BAM22|AP105A" "ADTB1|CLAPB2" "ADTB1, CLAPB2|adaptor related protein complex 1 beta 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 1|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1493|1671|1691|1835" 2000-09-01 2018-04-23 2023-01-20 162 ENSG00000100280 OTTHUMG00000151109 uc062cxt.1 L13939 NM_001127 "CCDS13855|CCDS54515|CCDS13856" Q10567 "7987321|8812422" MGI:1096368 RGD:2064 600157 HGNC:554 "ENST00000357586.7|NM_001127.4" HGNC:554 HGNC:297 AP1B1P1 AP1B1 pseudogene 1 pseudogene pseudogene Approved 22q12.3 22q12.3 dJ127L4.2 ADTB1L1 "adaptin, beta 1-like 1|adaptor-related protein complex 1, beta 1 subunit pseudogene 1|adaptor-related protein complex 1 beta 1 subunit pseudogene 1|adaptor related protein complex 1 beta 1 subunit pseudogene 1" 1999-10-29 2010-09-29 2018-04-23 2018-04-23 23782 ENSG00000234479 OTTHUMG00000030158 NG_002625 10591208 PGOHUM00000246567 HGNC:297 HGNC:298 AP1B1P2 AP1B1 pseudogene 2 pseudogene pseudogene Approved 22q12.3 22q12.3 dJ127L4.3 ADTB1L2 "adaptin, beta 1-like 2|adaptor-related protein complex 1, beta 1 subunit pseudogene 2|adaptor-related protein complex 1 beta 1 subunit pseudogene 2|adaptor related protein complex 1 beta 1 subunit pseudogene 2" 1999-10-29 2010-09-29 2018-04-23 2018-04-23 23781 ENSG00000232707 OTTHUMG00000030159 NG_002624 10591208 HGNC:298 -HGNC:555 AP1G1 adaptor related protein complex 1 subunit gamma 1 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 gamma1-adaptin "CLAPG1|ADTG" "adaptor-related protein complex 1, gamma 1 subunit|adaptor related protein complex 1 gamma 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 1|Small nucleolar RNA protein coding host genes" "1493|1671|1835" 2000-09-01 2018-04-23 2023-01-20 164 ENSG00000166747 OTTHUMG00000176871 uc010cgg.4 Y12226 NM_001030007 "CCDS32480|CCDS45522" O43747 "9653655|9733768" MGI:101919 RGD:619785 603533 HGNC:555 "ENST00000299980.9|NM_001128.6" +HGNC:555 AP1G1 adaptor related protein complex 1 subunit gamma 1 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 gamma1-adaptin "CLAPG1|ADTG" "adaptor-related protein complex 1, gamma 1 subunit|adaptor related protein complex 1 gamma 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 1|Small nucleolar RNA protein coding host genes" "1493|1671|1835" 2000-09-01 2018-04-23 2023-01-20 164 ENSG00000166747 OTTHUMG00000176871 uc010cgg.4 Y12226 NM_001030007 "CCDS45522|CCDS32480" O43747 "9653655|9733768" MGI:101919 RGD:619785 603533 HGNC:555 "ENST00000299980.9|NM_001128.6" HGNC:556 AP1G2 adaptor related protein complex 1 subunit gamma 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 G2AD "adaptor-related protein complex 1, gamma 2 subunit|adaptor related protein complex 1 gamma 2 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 1" "1493|1671" 2000-09-01 2018-04-23 2023-01-20 8906 ENSG00000213983 OTTHUMG00000028760 uc010tnp.2 AB015318 NM_003917 CCDS9602 O75843 "9733768|9762922" MGI:1328307 RGD:2324507 603534 HGNC:556 "ENST00000397120.8|NM_003917.5" HGNC:55442 AP1G2-AS1 AP1G2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Antisense RNAs 1987 2021-01-14 2021-01-14 102724814 ENSG00000258727 NR_110555 HGNC:13667 AP1M1 adaptor related protein complex 1 subunit mu 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "AP47|CLAPM2|mu1A" "adaptor-related protein complex 1, mu 1 subunit|adaptor related protein complex 1 mu 1 subunit" Adaptor related protein complex 1 1671 2000-09-28 2018-04-23 2023-01-20 8907 ENSG00000072958 OTTHUMG00000182323 uc002ndu.3 NM_032493 "CCDS46008|CCDS12342" Q9BXS5 "9653655|17988225" MGI:102776 RGD:1307653 603535 HGNC:13667 "ENST00000291439.8|NM_032493.4" -HGNC:558 AP1M2 adaptor related protein complex 1 subunit mu 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HSMU1B|mu2|AP1-mu2" "adaptor-related protein complex 1, mu 2 subunit|adaptor related protein complex 1 mu 2 subunit" Adaptor related protein complex 1 1671 2000-09-01 2018-04-23 2023-01-20 10053 ENSG00000129354 OTTHUMG00000180584 uc002mpc.4 AF020797 NM_001300887 "CCDS77234|CCDS45964" Q9Y6Q5 10338135 MGI:1336974 RGD:1561490 607309 HGNC:558 "ENST00000250244.11|NM_005498.5" +HGNC:558 AP1M2 adaptor related protein complex 1 subunit mu 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HSMU1B|mu2|AP1-mu2" "adaptor-related protein complex 1, mu 2 subunit|adaptor related protein complex 1 mu 2 subunit" Adaptor related protein complex 1 1671 2000-09-01 2018-04-23 2023-01-20 10053 ENSG00000129354 OTTHUMG00000180584 uc002mpc.4 AF020797 NM_001300887 "CCDS45964|CCDS77234" Q9Y6Q5 10338135 MGI:1336974 RGD:1561490 607309 HGNC:558 "ENST00000250244.11|NM_005498.5" HGNC:54978 AP1M2P1 AP1M2 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 2020-05-14 2020-05-14 645388 ENSG00000227534 NG_022666 HGNC:559 AP1S1 adaptor related protein complex 1 subunit sigma 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "AP19|SIGMA1A|WUGSC:H_DJ0747G18.2" "clathrin-associated/assembly/adaptor protein, small 1 (19kD)|clathrin coat assembly protein AP19|sigma1A subunit of AP-1 clathrin adaptor complex|AP-1 complex subunit sigma-1A|sigma1A-adaptin|golgi adaptor HA1/AP1 adaptin sigma-1A subunit|clathrin assembly protein complex 1 sigma-1A small chain|HA1 19 kDa subunit" "CLAPS1|EKV3" "erythrokeratodermia variabilis 3 (Kamouraska type)|adaptor related protein complex 1 sigma 1 subunit" "Adaptor related protein complex 1|MicroRNA protein coding host genes" "1671|1691" 2000-09-01 2018-04-23 2023-01-20 1174 ENSG00000106367 OTTHUMG00000157103 uc003uxv.5 AB015319 NM_001283 CCDS47669 P61966 "9653655|9733768|19057675" MGI:1098244 RGD:1305911 LRG_1363|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1363.xml 603531 178120 HGNC:559 "ENST00000337619.11|NM_001283.5" HGNC:559 -HGNC:560 AP1S2 adaptor related protein complex 1 subunit sigma 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 SIGMA1B "MRX59|MRXS5|PGS" "mental retardation, X-linked 59|mental retardation, X-linked, syndromic 5|Pettigrew X-linked mental retardation syndrome|adaptor related protein complex 1 sigma 2 subunit" Adaptor related protein complex 1 1671 2000-09-01 2018-04-23 2023-01-20 8905 ENSG00000182287 OTTHUMG00000021186 uc004cxi.5 AB015320 NM_003916 "CCDS94560|CCDS14173|CCDS94561|CCDS75958|CCDS94559" P56377 "9733768|17186471|23756445" MGI:1889383 RGD:1561862 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AP1S2 300629 137988 HGNC:560 "ENST00000672987.1|NM_001272071.2" HGNC:560 +HGNC:560 AP1S2 adaptor related protein complex 1 subunit sigma 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 SIGMA1B "MRX59|MRXS5|PGS" "mental retardation, X-linked 59|mental retardation, X-linked, syndromic 5|Pettigrew X-linked mental retardation syndrome|adaptor related protein complex 1 sigma 2 subunit" Adaptor related protein complex 1 1671 2000-09-01 2018-04-23 2023-01-20 8905 ENSG00000182287 OTTHUMG00000021186 uc004cxi.5 AB015320 NM_003916 "CCDS94559|CCDS94560|CCDS14173|CCDS75958|CCDS94561" P56377 "9733768|17186471|23756445" MGI:1889383 RGD:1561862 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AP1S2 300629 137988 HGNC:560 "ENST00000672987.1|NM_001272071.2" HGNC:560 HGNC:50752 AP1S2P1 AP1S2 pseudogene 1 pseudogene pseudogene Approved 7q21.3 07q21.3 "adaptor-related protein complex 1, sigma 2 subunit pseudogene 1|adaptor related protein complex 1 sigma 2 subunit pseudogene 1" 2014-06-16 2018-04-23 2018-04-23 106480305 ENSG00000226046 OTTHUMG00000154127 NG_044301 PGOHUM00000233484 HGNC:50752 HGNC:18971 AP1S3 adaptor related protein complex 1 subunit sigma 3 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 sigma1C AP-1 complex subunit sigma 3 adaptor related protein complex 1 sigma 3 subunit Adaptor related protein complex 1 1671 2002-12-17 2018-04-23 2023-03-15 130340 ENSG00000152056 OTTHUMG00000133165 uc002vnn.4 AF393369 NM_001039569 CCDS42827 Q96PC3 27388993 MGI:1891304 RGD:1311772 615781 402648 HGNC:18971 "ENST00000396654.7|NM_001039569.2" HGNC:18971 HGNC:561 AP2A1 adaptor related protein complex 2 subunit alpha 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "CLAPA1|ADTAA" "adaptor related protein complex 2 subunit alpha 1|adaptor related protein complex 2 alpha 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 2|MicroRNA protein coding host genes" "1493|1672|1691" 2000-09-01 2018-04-23 2023-01-20 160 ENSG00000196961 OTTHUMG00000183253 uc002ppn.4 AA993745 NM_014203 "CCDS46149|CCDS46148" O95782 2564002 MGI:101921 RGD:1306254 601026 HGNC:561 "ENST00000354293.10|NM_130787.3" -HGNC:562 AP2A2 adaptor related protein complex 2 subunit alpha 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "DKFZP564D1864|HYPJ|KIAA0899|HIP9" "alpha-adaptin C; Huntingtin interacting protein J|adaptin, alpha B|clathrin-associated/assembly/adaptor protein, large, alpha 2" "CLAPA2|ADTAB" "adaptor related protein complex 2 subunit alpha 2|adaptor related protein complex 2 alpha 2 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 2" "1493|1672" 2000-09-01 2018-04-23 2023-01-20 161 ENSG00000183020 OTTHUMG00000165627 uc001lss.4 AB020706 NM_012305 "CCDS73234|CCDS44512" O94973 "9700202|2564002" MGI:101920 RGD:71015 607242 HGNC:562 "ENST00000448903.7|NM_012305.4" HGNC:562 +HGNC:562 AP2A2 adaptor related protein complex 2 subunit alpha 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "DKFZP564D1864|HYPJ|KIAA0899|HIP9" "alpha-adaptin C; Huntingtin interacting protein J|adaptin, alpha B|clathrin-associated/assembly/adaptor protein, large, alpha 2" "CLAPA2|ADTAB" "adaptor related protein complex 2 subunit alpha 2|adaptor related protein complex 2 alpha 2 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 2" "1493|1672" 2000-09-01 2018-04-23 2023-01-20 161 ENSG00000183020 OTTHUMG00000165627 uc001lss.4 AB020706 NM_012305 "CCDS44512|CCDS73234" O94973 "9700202|2564002" MGI:101920 RGD:71015 607242 HGNC:562 "ENST00000448903.7|NM_012305.4" HGNC:562 HGNC:563 AP2B1 adaptor related protein complex 2 subunit beta 1 protein-coding gene gene with protein product Approved 17q12 17q12 beta2-adaptin "ADTB2|CLAPB1" "adaptor related protein complex 2 subunit beta 1|adaptor related protein complex 2 beta 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 2" "1493|1672" 2000-09-01 2018-04-23 2023-01-20 163 ENSG00000006125 OTTHUMG00000179924 uc002hjq.4 M34175 NM_001030006 "CCDS32622|CCDS32621" P63010 "8262066|8595912" MGI:1919020 RGD:71048 601025 HGNC:563 "ENST00000610402.5|NM_001030006.2" HGNC:55017 AP2B1P1 AP2B1 pseudogene 1 pseudogene pseudogene Approved Xq21.32 Xq21.32 2020-05-22 2020-05-22 401602 ENSG00000234130 NG_022622 -HGNC:564 AP2M1 adaptor related protein complex 2 subunit mu 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "AP50|mu2" "clathrin-associated/assembly/adaptor protein, medium 1|plasma membrane adaptor AP-2 50kDA protein|clathrin coat adaptor protein AP50|clathrin adaptor complex AP2, mu subunit|HA2 50 kDA subunit|clathrin assembly protein complex 2 medium chain|AP-2 mu 2 chain" CLAPM1 adaptor related protein complex 2 mu 1 subunit Adaptor related protein complex 2 1672 2000-09-01 2018-04-23 2023-01-20 1173 ENSG00000161203 OTTHUMG00000156822 uc062qrr.1 U36188 NM_004068 "CCDS82880|CCDS43178|CCDS43177" Q96CW1 8595912 MGI:1298405 RGD:620135 601024 HGNC:564 "ENST00000292807.9|NM_004068.4" HGNC:564 -HGNC:565 AP2S1 adaptor related protein complex 2 subunit sigma 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "FBHOk|FBH3" sigma-2 "CLAPS2|HHC3" "hypocalciuric hypercalcemia 3 (Oklahoma type)|adaptor related protein complex 2 sigma 1 subunit" Adaptor related protein complex 2 1672 2000-09-01 2018-04-23 2023-01-20 1175 ENSG00000042753 OTTHUMG00000183437 uc002pft.2 AJ010148 NM_001301076 "CCDS33062|CCDS77321|CCDS77322|CCDS12693|CCDS77323" P53680 "9040778|9767099|23222959" MGI:2141861 RGD:620188 602242 320542 HGNC:565 "ENST00000263270.11|NM_004069.6" HGNC:565 -HGNC:566 AP3B1 adaptor related protein complex 3 subunit beta 1 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "ADTB3A|HPS2" beta-3A adaptor related protein complex 3 beta 1 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3" "1493|1673" 2000-09-01 2018-04-23 2023-01-20 8546 ENSG00000132842 OTTHUMG00000106919 uc003kfj.5 U81504 NM_001271769 "CCDS93737|CCDS64186|CCDS4041" O00203 "9182526|9151686" MGI:1333879 RGD:1310256 "Albinism Database|http://albinismdb.med.umn.edu/|AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2|http://structure.bmc.lu.se/idbase/AP3B1base/|Mutations of the Adaptin b3a Gene|http://www.retina-international.org/files/sci-news/adtb3mut.htm|LRG_170|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_170.xml" 603401 121374 HGNC:566 "ENST00000255194.11|NM_003664.5" HGNC:566 -HGNC:567 AP3B2 adaptor related protein complex 3 subunit beta 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 NAPTB adaptor related protein complex 3 beta 2 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3" "1493|1673" 2000-09-01 2018-04-23 2023-01-20 8120 ENSG00000103723 OTTHUMG00000168009 uc010uoh.4 U37673 NM_001278511 "CCDS61737|CCDS61736|CCDS45331|CCDS86482" Q13367 "7671305|1851215" MGI:1100869 RGD:1308950 602166 HGNC:567 "ENST00000535359.6|NM_001278512.2" HGNC:567 -HGNC:568 AP3D1 adaptor related protein complex 3 subunit delta 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ADTD adaptor related protein complex 3 delta 1 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3" "1493|1673" 2000-09-01 2018-04-23 2023-03-15 8943 ENSG00000065000 OTTHUMG00000180354 uc002luz.4 U91930 NM_001261826 "CCDS58638|CCDS42459|CCDS92482" O14617 "9151686|9303295" MGI:107734 RGD:1308659 LRG_1207|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1207.xml 607246 469950 HGNC:568 "ENST00000643116.3|NM_001261826.3" HGNC:568 +HGNC:564 AP2M1 adaptor related protein complex 2 subunit mu 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "AP50|mu2" "clathrin-associated/assembly/adaptor protein, medium 1|plasma membrane adaptor AP-2 50kDA protein|clathrin coat adaptor protein AP50|clathrin adaptor complex AP2, mu subunit|HA2 50 kDA subunit|clathrin assembly protein complex 2 medium chain|AP-2 mu 2 chain" CLAPM1 adaptor related protein complex 2 mu 1 subunit Adaptor related protein complex 2 1672 2000-09-01 2018-04-23 2023-01-20 1173 ENSG00000161203 OTTHUMG00000156822 uc062qrr.1 U36188 NM_004068 "CCDS43178|CCDS82880|CCDS43177" Q96CW1 8595912 MGI:1298405 RGD:620135 601024 HGNC:564 "ENST00000292807.9|NM_004068.4" HGNC:564 +HGNC:565 AP2S1 adaptor related protein complex 2 subunit sigma 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "FBHOk|FBH3" sigma-2 "CLAPS2|HHC3" "hypocalciuric hypercalcemia 3 (Oklahoma type)|adaptor related protein complex 2 sigma 1 subunit" Adaptor related protein complex 2 1672 2000-09-01 2018-04-23 2023-01-20 1175 ENSG00000042753 OTTHUMG00000183437 uc002pft.2 AJ010148 NM_001301076 "CCDS77323|CCDS77322|CCDS12693|CCDS77321|CCDS33062" P53680 "9040778|9767099|23222959" MGI:2141861 RGD:620188 602242 320542 HGNC:565 "ENST00000263270.11|NM_004069.6" HGNC:565 +HGNC:566 AP3B1 adaptor related protein complex 3 subunit beta 1 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "ADTB3A|HPS2" beta-3A adaptor related protein complex 3 beta 1 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3" "1493|1673" 2000-09-01 2018-04-23 2023-01-20 8546 ENSG00000132842 OTTHUMG00000106919 uc003kfj.5 U81504 NM_001271769 "CCDS4041|CCDS64186|CCDS93737" O00203 "9182526|9151686" MGI:1333879 RGD:1310256 "Albinism Database|http://albinismdb.med.umn.edu/|AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2|http://structure.bmc.lu.se/idbase/AP3B1base/|Mutations of the Adaptin b3a Gene|http://www.retina-international.org/files/sci-news/adtb3mut.htm|LRG_170|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_170.xml" 603401 121374 HGNC:566 "ENST00000255194.11|NM_003664.5" HGNC:566 +HGNC:567 AP3B2 adaptor related protein complex 3 subunit beta 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 NAPTB adaptor related protein complex 3 beta 2 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3" "1493|1673" 2000-09-01 2018-04-23 2023-01-20 8120 ENSG00000103723 OTTHUMG00000168009 uc010uoh.4 U37673 NM_001278511 "CCDS61736|CCDS86482|CCDS45331|CCDS61737" Q13367 "7671305|1851215" MGI:1100869 RGD:1308950 602166 HGNC:567 "ENST00000535359.6|NM_001278512.2" HGNC:567 +HGNC:568 AP3D1 adaptor related protein complex 3 subunit delta 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ADTD adaptor related protein complex 3 delta 1 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3" "1493|1673" 2000-09-01 2018-04-23 2023-03-15 8943 ENSG00000065000 OTTHUMG00000180354 uc002luz.4 U91930 NM_001261826 "CCDS58638|CCDS92482|CCDS42459" O14617 "9151686|9303295" MGI:107734 RGD:1308659 LRG_1207|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1207.xml 607246 469950 HGNC:568 "ENST00000643116.3|NM_001261826.3" HGNC:568 HGNC:569 AP3M1 adaptor related protein complex 3 subunit mu 1 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 adaptor related protein complex 3 mu 1 subunit Adaptor related protein complex 3 1673 2000-09-01 2018-04-23 2023-01-20 26985 ENSG00000185009 OTTHUMG00000018497 uc001jwh.4 AF092092 NM_001320263 CCDS7342 Q9Y2T2 10024875 MGI:1929212 RGD:620417 610366 HGNC:569 "ENST00000355264.9|NM_012095.6" HGNC:570 AP3M2 adaptor related protein complex 3 subunit mu 2 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "CLA20|AP47B" adaptor related protein complex 3 mu 2 subunit Adaptor related protein complex 3 1673 2000-09-01 2018-04-23 2023-01-20 10947 ENSG00000070718 OTTHUMG00000164060 uc064mjc.1 D38293 NM_001134296 CCDS6125 P53677 7601449 MGI:1929214 RGD:70969 610469 HGNC:570 "ENST00000396926.8|NM_006803.4" -HGNC:2013 AP3S1 adaptor related protein complex 3 subunit sigma 1 protein-coding gene gene with protein product Approved 5q22.3-q23.1 05q22.3-q23.1 CLAPS3 adaptor related protein complex 3 sigma 1 subunit Adaptor related protein complex 3 1673 1996-03-12 2018-04-23 2023-01-20 1176 ENSG00000177879 OTTHUMG00000128887 uc003krl.4 D63643 NM_001364119 "CCDS83021|CCDS4123" Q92572 "8697810|9118953" MGI:1337062 RGD:1311115 601507 HGNC:2013 "ENST00000316788.12|NM_001284.4" +HGNC:2013 AP3S1 adaptor related protein complex 3 subunit sigma 1 protein-coding gene gene with protein product Approved 5q22.3-q23.1 05q22.3-q23.1 CLAPS3 adaptor related protein complex 3 sigma 1 subunit Adaptor related protein complex 3 1673 1996-03-12 2018-04-23 2023-01-20 1176 ENSG00000177879 OTTHUMG00000128887 uc003krl.4 D63643 NM_001364119 "CCDS4123|CCDS83021" Q92572 "8697810|9118953" MGI:1337062 RGD:1311115 601507 HGNC:2013 "ENST00000316788.12|NM_001284.4" HGNC:571 AP3S2 adaptor related protein complex 3 subunit sigma 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 sigma3b adaptor related protein complex 3 sigma 2 subunit "Adaptor related protein complex 3|MicroRNA protein coding host genes" "1673|1691" 2000-09-01 2018-04-23 2023-01-20 10239 ENSG00000157823 OTTHUMG00000149811 uc002boq.5 X99459 NM_005829 CCDS10357 P59780 9118953 MGI:1337060 RGD:1586888 602416 HGNC:571 "ENST00000336418.9|NM_005829.5" -HGNC:572 AP4B1 adaptor related protein complex 4 subunit beta 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 BETA-4 "beta 4 subunit of AP-4|AP-4 complex subunit beta-1" SPG47 "spastic paraplegia 47|adaptor related protein complex 4 beta 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 4" "1493|1674" 2000-09-01 2018-04-23 2023-01-20 10717 ENSG00000134262 OTTHUMG00000011943 uc001eed.4 AF092094 NM_006594 "CCDS865|CCDS76192" Q9Y6B7 10066790 MGI:1337130 RGD:1310529 607245 270048 HGNC:572 "ENST00000369569.6|NM_001253852.3" HGNC:572 +HGNC:572 AP4B1 adaptor related protein complex 4 subunit beta 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 BETA-4 "beta 4 subunit of AP-4|AP-4 complex subunit beta-1" SPG47 "spastic paraplegia 47|adaptor related protein complex 4 beta 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 4" "1493|1674" 2000-09-01 2018-04-23 2023-01-20 10717 ENSG00000134262 OTTHUMG00000011943 uc001eed.4 AF092094 NM_006594 "CCDS76192|CCDS865" Q9Y6B7 10066790 MGI:1337130 RGD:1310529 607245 270048 HGNC:572 "ENST00000369569.6|NM_001253852.3" HGNC:572 HGNC:44114 AP4B1-AS1 AP4B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 AP4B1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100287722 ENSG00000226167 OTTHUMG00000011941 uc001edv.3 AK123199 NR_037864 AP4B1-AS1 HGNC:44114 -HGNC:573 AP4E1 adaptor related protein complex 4 subunit epsilon 1 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "AP-4-EPSILON|SPG51" adaptor related protein complex 4 epsilon 1 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 4" "1493|1674" 2000-09-01 2018-04-23 2023-01-20 23431 ENSG00000081014 OTTHUMG00000172458 uc001zyx.3 AB030653 NM_001252127 "CCDS32240|CCDS58362" Q9UPM8 "10436028|21620353" MGI:1336993 RGD:1562199 LRG_732|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_732.xml 607244 270045 HGNC:573 "ENST00000261842.10|NM_007347.5" HGNC:573 -HGNC:574 AP4M1 adaptor related protein complex 4 subunit mu 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MU-ARP2|MU-4|SPG50" "mu-adaptin-related protein-2|mu subunit of AP-4|AP-4 adapter complex mu subunit|adaptor-related protein complex AP-4 mu4 subunit" adaptor related protein complex 4 mu 1 subunit Adaptor related protein complex 4 1674 2000-09-01 2018-04-23 2023-01-20 9179 ENSG00000221838 OTTHUMG00000154722 uc003utd.4 Y08387 NM_004722 "CCDS87527|CCDS5685" O00189 "9013859|10066790|21620353" MGI:1337063 RGD:1310233 602296 212921 HGNC:574 "ENST00000359593.9|NM_004722.4" HGNC:574 -HGNC:575 AP4S1 adaptor related protein complex 4 subunit sigma 1 protein-coding gene gene with protein product Approved 14q12 14q12 "CLA20|AP47B|SPG52" adaptor related protein complex 4 sigma 1 subunit Adaptor related protein complex 4 1674 2000-09-01 2018-04-23 2023-01-20 11154 ENSG00000100478 OTTHUMG00000140202 uc021rry.2 AB030654 NM_001128126 "CCDS45093|CCDS58309|CCDS9642|CCDS58310" Q9Y587 "10436028|21620353" MGI:1337065 RGD:1311990 607243 270052 HGNC:575 "ENST00000542754.7|NM_001128126.3" HGNC:575 +HGNC:573 AP4E1 adaptor related protein complex 4 subunit epsilon 1 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "AP-4-EPSILON|SPG51" adaptor related protein complex 4 epsilon 1 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 4" "1493|1674" 2000-09-01 2018-04-23 2023-01-20 23431 ENSG00000081014 OTTHUMG00000172458 uc001zyx.3 AB030653 NM_001252127 "CCDS58362|CCDS32240" Q9UPM8 "10436028|21620353" MGI:1336993 RGD:1562199 LRG_732|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_732.xml 607244 270045 HGNC:573 "ENST00000261842.10|NM_007347.5" HGNC:573 +HGNC:574 AP4M1 adaptor related protein complex 4 subunit mu 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MU-ARP2|MU-4|SPG50" "mu-adaptin-related protein-2|mu subunit of AP-4|AP-4 adapter complex mu subunit|adaptor-related protein complex AP-4 mu4 subunit" adaptor related protein complex 4 mu 1 subunit Adaptor related protein complex 4 1674 2000-09-01 2018-04-23 2023-01-20 9179 ENSG00000221838 OTTHUMG00000154722 uc003utd.4 Y08387 NM_004722 "CCDS5685|CCDS87527" O00189 "9013859|10066790|21620353" MGI:1337063 RGD:1310233 602296 212921 HGNC:574 "ENST00000359593.9|NM_004722.4" HGNC:574 +HGNC:575 AP4S1 adaptor related protein complex 4 subunit sigma 1 protein-coding gene gene with protein product Approved 14q12 14q12 "CLA20|AP47B|SPG52" adaptor related protein complex 4 sigma 1 subunit Adaptor related protein complex 4 1674 2000-09-01 2018-04-23 2023-01-20 11154 ENSG00000100478 OTTHUMG00000140202 uc021rry.2 AB030654 NM_001128126 "CCDS58309|CCDS9642|CCDS58310|CCDS45093" Q9Y587 "10436028|21620353" MGI:1337065 RGD:1311990 607243 270052 HGNC:575 "ENST00000542754.7|NM_001128126.3" HGNC:575 HGNC:25104 AP5B1 adaptor related protein complex 5 subunit beta 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "PP1030|AP-5|DKFZp761E198" "adaptor-related protein complex 5, beta 1 subunit|adaptor related protein complex 5 beta 1 subunit" "Armadillo like helical domain containing|Adaptor related protein complex 5" "1492|1675" 2012-02-27 2018-04-23 2023-01-20 91056 ENSG00000254470 OTTHUMG00000166593 uc031qbm.2 JQ313135 NM_138368 CCDS58146 Q2VPB7 22022230 MGI:2685808 RGD:1562657 614367 HGNC:25104 "ENST00000532090.3|NM_138368.5" HGNC:20192 AP5M1 adaptor related protein complex 5 subunit mu 1 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "FLJ10813|MuD|mu5" Mu-2 related death-inducing gene "C14orf108|MUDENG" "chromosome 14 open reading frame 108|MU-2/AP1M2 domain containing, death-inducing|adaptor-related protein complex 5, mu 1 subunit|adaptor related protein complex 5 mu 1 subunit" Adaptor related protein complex 5 1675 2002-12-20 2012-03-20 2018-04-23 2023-01-20 55745 ENSG00000053770 OTTHUMG00000140318 uc001xcv.4 AF094583 NM_018229 CCDS9729 Q9H0R1 18395520 MGI:1921635 RGD:1308087 614368 HGNC:20192 "ENST00000261558.8|NM_018229.4" HGNC:15875 AP5S1 adaptor related protein complex 5 subunit sigma 1 protein-coding gene gene with protein product Approved 20p13 20p13 FLJ11168 C20orf29 "chromosome 20 open reading frame 29|adaptor-related protein complex 5, sigma 1 subunit|adaptor related protein complex 5 sigma 1 subunit" Adaptor related protein complex 5 1675 2001-06-21 2012-02-27 2018-04-23 2023-01-20 55317 ENSG00000125843 OTTHUMG00000031760 uc002wju.3 AK002030 NM_018347 CCDS13070 Q9NUS5 "11780052|22022230" MGI:1916846 RGD:1561852 614824 HGNC:15875 "ENST00000615891.2|NM_018347.3" HGNC:22197 AP5Z1 adaptor related protein complex 5 subunit zeta 1 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "SPG48|zeta" KIAA0415 "KIAA0415|adaptor-related protein complex 5, zeta 1 subunit|adaptor related protein complex 5 zeta 1 subunit" "Armadillo like helical domain containing|Adaptor related protein complex 5" "1492|1675" 2007-07-23 2012-03-20 2018-04-23 2023-01-20 9907 ENSG00000242802 OTTHUMG00000151754 uc003sne.4 AB007875 NM_001364858 CCDS47528 O43299 "20613862|22022230" MGI:1924908 RGD:1593125 LRG_1247|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1247.xml 613653 311047 HGNC:22197 "ENST00000649063.2|NM_014855.3" HGNC:22197 -HGNC:576 APAF1 apoptotic peptidase activating factor 1 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "CED4|APAF-1" "apoptotic protease activating factor|apoptotic peptidase activating factor" "WD repeat domain containing|Caspase recruitment domain containing|Apoptosome" "362|959|1341" 1998-01-20 2006-10-23 2023-01-20 317 ENSG00000120868 OTTHUMG00000170214 uc001tfz.4 AF013263 NM_181861.1 "CCDS55862|CCDS9070|CCDS9069|CCDS55863|CCDS9071" O14727 "9267021|10702682" MGI:1306796 RGD:620575 602233 HGNC:576 "ENST00000551964.6|NM_181861.2" HGNC:576 +HGNC:576 APAF1 apoptotic peptidase activating factor 1 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "CED4|APAF-1" "apoptotic protease activating factor|apoptotic peptidase activating factor" "WD repeat domain containing|Caspase recruitment domain containing|Apoptosome" "362|959|1341" 1998-01-20 2006-10-23 2023-01-20 317 ENSG00000120868 OTTHUMG00000170214 uc001tfz.4 AF013263 NM_181861.1 "CCDS9069|CCDS9071|CCDS55863|CCDS55862|CCDS9070" O14727 "9267021|10702682" MGI:1306796 RGD:620575 602233 HGNC:576 "ENST00000551964.6|NM_181861.2" HGNC:576 HGNC:578 APBA1 amyloid beta precursor protein binding family A member 1 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 "D9S411E|X11" MINT1 amyloid beta (A4) precursor protein-binding, family A, member 1 PDZ domain containing 1220 1997-06-25 2016-01-21 2023-01-20 320 ENSG00000107282 OTTHUMG00000019984 uc004ahh.3 AF029106 NM_001163 CCDS6630 Q02410 "7678331|7719031" MGI:1860297 RGD:620844 602414 HGNC:578 "ENST00000265381.7|NM_001163.4" -HGNC:579 APBA2 amyloid beta precursor protein binding family A member 2 protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "D15S1518E|LIN-10|MGC:14091|HsT16821" "X11L|MINT2" "X11-like|amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)|amyloid beta (A4) precursor protein-binding, family A, member 2" PDZ domain containing 1220 1997-06-25 2016-01-21 2023-01-20 321 ENSG00000034053 OTTHUMG00000129255 uc059gzq.1 AB014719 NM_005503 "CCDS45197|CCDS10022" Q99767 8955346 MGI:1261791 RGD:620845 602712 HGNC:579 "ENST00000683413.1|NM_001353788.2" HGNC:579 +HGNC:579 APBA2 amyloid beta precursor protein binding family A member 2 protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "D15S1518E|LIN-10|MGC:14091|HsT16821" "X11L|MINT2" "X11-like|amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)|amyloid beta (A4) precursor protein-binding, family A, member 2" PDZ domain containing 1220 1997-06-25 2016-01-21 2023-01-20 321 ENSG00000034053 OTTHUMG00000129255 uc059gzq.1 AB014719 NM_005503 "CCDS10022|CCDS45197" Q99767 8955346 MGI:1261791 RGD:620845 602712 HGNC:579 "ENST00000683413.1|NM_001353788.2" HGNC:579 HGNC:580 APBA3 amyloid beta precursor protein binding family A member 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "X11L2|mint3" X11-like 2 amyloid beta (A4) precursor protein-binding, family A, member 3 PDZ domain containing 1220 1999-04-22 2016-01-21 2023-01-20 9546 ENSG00000011132 OTTHUMG00000180915 uc002lyp.2 AB021638 NM_004886 CCDS12110 O96018 10049767 MGI:1888527 RGD:620846 604262 HGNC:580 "ENST00000316757.4|NM_004886.4" -HGNC:581 APBB1 amyloid beta precursor protein binding family B member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Fe65 RIR amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 1997-03-27 2016-01-21 2023-01-20 322 ENSG00000166313 OTTHUMG00000165454 uc001mdc.3 L77864 NM_001164 "CCDS66016|CCDS66015|CCDS58114|CCDS66018|CCDS66017|CCDS31410" O00213 "8955346|8894693" MGI:107765 RGD:2122 602709 HGNC:581 "ENST00000609360.6|NM_001164.5" +HGNC:581 APBB1 amyloid beta precursor protein binding family B member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Fe65 RIR amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 1997-03-27 2016-01-21 2023-01-20 322 ENSG00000166313 OTTHUMG00000165454 uc001mdc.3 L77864 NM_001164 "CCDS31410|CCDS66018|CCDS58114|CCDS66015|CCDS66016|CCDS66017" O00213 "8955346|8894693" MGI:107765 RGD:2122 602709 HGNC:581 "ENST00000609360.6|NM_001164.5" HGNC:17379 APBB1IP amyloid beta precursor protein binding family B member 1 interacting protein protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "INAG1|RIAM" Rap1-GTP-interacting adaptor molecule amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein Pleckstrin homology domain containing 682 2003-03-07 2016-01-21 2023-01-20 54518 ENSG00000077420 OTTHUMG00000017841 uc001iss.4 AB085852 NM_019043 CCDS31167 Q7Z5R6 9407065 MGI:1861354 RGD:1304795 609036 HGNC:17379 "ENST00000376236.9|NM_019043.4" -HGNC:582 APBB2 amyloid beta precursor protein binding family B member 2 protein-coding gene gene with protein product Approved 4p14-p13 04p14-p13 "FE65L|FE65L1|MGC35575" Fe65-like amyloid beta (A4) precursor protein-binding, family B, member 2 1997-06-25 2016-01-21 2023-01-20 323 ENSG00000163697 OTTHUMG00000160416 uc003gvm.4 U62325 NM_173075 "CCDS43224|CCDS54762|CCDS54761|CCDS54760|CCDS82918" Q92870 "8955346|9585438" MGI:108405 RGD:1562438 602710 HGNC:582 "ENST00000508593.6|NM_004307.2" -HGNC:20708 APBB3 amyloid beta precursor protein binding family B member 3 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 FE65L2 amyloid beta (A4) precursor protein-binding, family B, member 3 MicroRNA protein coding host genes 1691 2003-03-21 2016-01-21 2023-03-15 10307 ENSG00000113108 OTTHUMG00000191657 uc063hvr.1 AB018247 NM_006051 "CCDS4228|CCDS4229|CCDS4227|CCDS47279" O95704 9407065 MGI:108404 RGD:620853 602711 HGNC:20708 "ENST00000357560.9|NM_133173.3" +HGNC:582 APBB2 amyloid beta precursor protein binding family B member 2 protein-coding gene gene with protein product Approved 4p14-p13 04p14-p13 "FE65L|FE65L1|MGC35575" Fe65-like amyloid beta (A4) precursor protein-binding, family B, member 2 1997-06-25 2016-01-21 2023-01-20 323 ENSG00000163697 OTTHUMG00000160416 uc003gvm.4 U62325 NM_173075 "CCDS43224|CCDS54761|CCDS54760|CCDS82918|CCDS54762" Q92870 "8955346|9585438" MGI:108405 RGD:1562438 602710 HGNC:582 "ENST00000508593.6|NM_004307.2" +HGNC:20708 APBB3 amyloid beta precursor protein binding family B member 3 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 FE65L2 amyloid beta (A4) precursor protein-binding, family B, member 3 MicroRNA protein coding host genes 1691 2003-03-21 2016-01-21 2023-03-15 10307 ENSG00000113108 OTTHUMG00000191657 uc063hvr.1 AB018247 NM_006051 "CCDS4228|CCDS47279|CCDS4227|CCDS4229" O95704 9407065 MGI:108404 RGD:620853 602711 HGNC:20708 "ENST00000357560.9|NM_133173.3" HGNC:583 APC APC regulator of WNT signaling pathway protein-coding gene gene with protein product Approved 5q22.2 05q22.2 "DP2|DP3|DP2.5|PPP1R46" protein phosphatase 1, regulatory subunit 46 "adenomatosis polyposis coli|adenomatous polyposis coli|APC, WNT signaling pathway regulator" "Armadillo repeat containing|Protein phosphatase 1 regulatory subunits" "409|694" 1986-01-01 2019-01-25 2023-01-20 324 ENSG00000134982 OTTHUMG00000128806 uc003kpy.5 M74088 NM_000038 CCDS4107 P25054 1651563 MGI:88039 RGD:2123 "Adenomatous polyposis coli mutation database|http://p53.free.fr/|UMD Locus Specific Databases|http://www.umd.be/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/APC|APC database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=APC|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/APC|LRG_130|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_130.xml" APC 611731 123393 HGNC:583 "ENST00000257430.9|NM_000038.6" HGNC:583 HGNC:24036 APC2 APC regulator of WNT signaling pathway 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 APCL adenomatous polyposis coli like "adenomatosis polyposis coli 2|APC2, WNT signaling pathway regulator" Armadillo repeat containing 409 2004-03-18 2019-01-25 2023-01-20 10297 ENSG00000115266 OTTHUMG00000180059 uc002lsr.1 NM_005883 CCDS12068 O95996 "9823329|10021369" MGI:1346052 RGD:1308256 612034 431562 HGNC:24036 "ENST00000590469.6|NM_005883.3" HGNC:24036 HGNC:15718 APCDD1 APC down-regulated 1 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 B7323 adenomatosis polyposis coli down-regulated 1 2001-06-21 2016-06-28 2023-01-20 147495 ENSG00000154856 OTTHUMG00000131635 uc002kom.5 AB056722 NM_153000 CCDS11849 Q8J025 12384519 MGI:3513977 RGD:1589962 607479 229796 HGNC:15718 "ENST00000355285.10|NM_153000.5" HGNC:15718 @@ -1283,17 +1283,17 @@ HGNC:586 APEH acylaminoacyl-peptide hydrolase protein-coding gene gene with prot HGNC:48925 APELA apelin receptor early endogenous ligand protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "Ende|ELA|tdl" "ELABELA|toddler" Receptor ligands 542 2014-01-24 2023-01-20 100506013 ENSG00000248329 OTTHUMG00000161255 NM_001297550 CCDS77980 P0DMC3 "20153842|24316148|24407481" MGI:3642370 RGD:9299863 615594 ligandId:7930 HGNC:48925 "ENST00000507152.6|NM_001297550.2" HGNC:587 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "APE|REF1|HAP1|APX|APEN|REF-1|APE-1" APEX "APEX nuclease (multifunctional DNA repair enzyme)|APEX nuclease (multifunctional DNA repair enzyme) 1" "SET complex|Endoribonucleases" "1659|1687" 1997-05-22 2002-09-13 2016-03-08 2023-01-20 328 ENSG00000100823 OTTHUMG00000029544 uc001vxi.4 X59764 NM_001641 CCDS9550 P27695 MGI:88042 RGD:2126 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 107748 4.2.99.18 HGNC:587 "ENST00000216714.8|NM_001641.4" HGNC:587 HGNC:17889 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "APEXL2|APE2|XTH2|ZGRF2" zinc finger, GRF-type containing 2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Zinc fingers GRF-type 135 2002-07-22 2016-03-08 2023-01-20 27301 ENSG00000169188 OTTHUMG00000021642 uc004dtz.5 AB021260 NM_001271748 CCDS14365 Q9UBZ4 11376153 MGI:1924872 RGD:1565983 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/APEX2 300773 4.2.99.18 HGNC:17889 "ENST00000374987.4|NM_014481.4" -HGNC:29509 APH1A aph-1 homolog A, gamma-secretase subunit protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "APH-1A|CGI-78" "anterior pharynx defective 1 homolog A (C. elegans)|APH1A gamma secretase subunit" 2005-02-08 2016-05-16 2023-01-20 51107 ENSG00000117362 OTTHUMG00000012545 uc001etz.3 AF151835 NM_016022 "CCDS41391|CCDS41390|CCDS58025" Q96BI3 "10810093|12110170" MGI:2385110 RGD:1311546 607629 HGNC:29509 "ENST00000369109.8|NM_001077628.3" +HGNC:29509 APH1A aph-1 homolog A, gamma-secretase subunit protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "APH-1A|CGI-78" "anterior pharynx defective 1 homolog A (C. elegans)|APH1A gamma secretase subunit" 2005-02-08 2016-05-16 2023-01-20 51107 ENSG00000117362 OTTHUMG00000012545 uc001etz.3 AF151835 NM_016022 "CCDS41391|CCDS58025|CCDS41390" Q96BI3 "10810093|12110170" MGI:2385110 RGD:1311546 607629 HGNC:29509 "ENST00000369109.8|NM_001077628.3" HGNC:24080 APH1B aph-1 homolog B, gamma-secretase subunit protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "PSFL|APH-1B|DKFZp564D0372" "anterior pharynx defective 1 homolog B (C. elegans)|APH1B gamma secretase subunit" 2005-02-08 2016-05-16 2023-01-20 83464 ENSG00000138613 OTTHUMG00000132863 uc002ama.4 AY358698 NM_031301 "CCDS45276|CCDS10184" Q8WW43 "12110170|11230166" MGI:3522097 RGD:1562468 607630 HGNC:24080 "ENST00000261879.10|NM_031301.4" -HGNC:594 API5 apoptosis inhibitor 5 protein-coding gene gene with protein product Approved 11p12 11p12 "AAC-11|API5L1|AAC11" "API5-like 1|fibroblast growth factor 2-interacting factor 2|migration-inducing protein MIG8" Armadillo like helical domain containing 1492 1998-10-06 2023-01-20 8539 ENSG00000166181 OTTHUMG00000166395 uc001mxf.3 U83857 NM_006595 "CCDS31465|CCDS44573|CCDS44572" Q9BZZ5 9307294 MGI:1888993 RGD:1309772 609774 HGNC:594 "ENST00000531273.6|NM_001142930.2" +HGNC:594 API5 apoptosis inhibitor 5 protein-coding gene gene with protein product Approved 11p12 11p12 "AAC-11|API5L1|AAC11" "API5-like 1|fibroblast growth factor 2-interacting factor 2|migration-inducing protein MIG8" Armadillo like helical domain containing 1492 1998-10-06 2023-01-20 8539 ENSG00000166181 OTTHUMG00000166395 uc001mxf.3 U83857 NM_006595 "CCDS44572|CCDS31465|CCDS44573" Q9BZZ5 9307294 MGI:1888993 RGD:1309772 609774 HGNC:594 "ENST00000531273.6|NM_001142930.2" HGNC:595 API5P1 apoptosis inhibitor 5 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 API5L1 "API5-like 1|API5 pseudogene 1" 1999-07-14 2010-09-30 2015-04-02 2020-04-20 642812 ENSG00000234558 OTTHUMG00000022242 NG_009200 10373420 PGOHUM00000241507 HGNC:595 HGNC:39070 API5P2 apoptosis inhibitor 5 pseudogene 2 pseudogene pseudogene Approved 2q31.2 02q31.2 API5 pseudogene 2 2010-09-30 2015-04-02 2015-04-02 728664 ENSG00000213962 OTTHUMG00000154194 NG_009199 PGOHUM00000240441 HGNC:39070 HGNC:17581 APIP APAF1 interacting protein protein-coding gene gene with protein product Approved 11p13 11p13 "CGI-29|Mmrp19|APIP2" methylthioribulose-1-phosphate dehydratase 2005-11-10 2023-01-20 51074 ENSG00000149089 OTTHUMG00000166455 uc001mvs.4 AF132963 NM_015957 CCDS7895 Q96GX9 "10810093|15262985|24367089" MGI:1926788 RGD:1564562 612491 4.2.1.109 HGNC:17581 "ENST00000395787.4|NM_015957.4" HGNC:28724 APLF aprataxin and PNKP like factor protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "MGC47799|Xip1|ZCCHH1" "XRCC1-interacting protein 1|zinc finger, CX5CX6HX5H motif containing 1" C2orf13 chromosome 2 open reading frame 13 Zinc fingers 26 2004-01-09 2008-10-01 2008-10-01 2023-01-20 200558 ENSG00000169621 OTTHUMG00000129566 uc002sep.4 BC030711 NM_173545 CCDS1888 Q8IW19 "18474613|18077224|17353262" MGI:1919353 RGD:1565557 611035 HGNC:28724 "ENST00000303795.9|NM_173545.3" HGNC:16665 APLN apelin protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "apelin|XNPEP2" apelin, AGTRL1 ligand Neuropeptides 1902 2004-06-01 2008-04-21 2023-01-20 8862 ENSG00000171388 OTTHUMG00000022371 uc004eus.4 AF179680 NM_017413 CCDS48165 Q9ULZ1 "9792798|10525157" MGI:1353624 RGD:620672 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/APLN 300297 ligandId:606 HGNC:16665 "ENST00000429967.3|NM_017413.5" HGNC:339 APLNR apelin receptor protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "FLJ90771|APJ|APJR" APJ (apelin) receptor AGTRL1 angiotensin II receptor-like 1 1994-07-07 2008-05-12 2008-05-12 2023-01-20 187 ENSG00000134817 OTTHUMG00000167021 uc058bkm.1 U03642 NM_005161 CCDS7950 P35414 "8294032|14622440" MGI:1346086 RGD:621645 600052 objectId:36 HGNC:339 "ENST00000606794.2|NM_005161.6" -HGNC:597 APLP1 amyloid beta precursor like protein 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 APLP "amyloid-like protein 1|amyloid precursor-like protein 1" amyloid beta (A4) precursor-like protein 1 1992-06-18 2016-01-21 2023-01-20 333 ENSG00000105290 OTTHUMG00000180692 uc002ocf.4 U48437 NM_001024807 "CCDS32997|CCDS92600" P51693 8432545 MGI:88046 RGD:69257 104775 HGNC:597 "ENST00000221891.9|NM_001024807.3" -HGNC:598 APLP2 amyloid beta precursor like protein 2 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 APPH APPL2 amyloid beta (A4) precursor-like protein 2 1993-06-23 2016-01-21 2023-01-20 334 ENSG00000084234 OTTHUMG00000165767 uc010sby.3 L19597 NM_001642 "CCDS58196|CCDS8486|CCDS44775|CCDS44773|CCDS44774" Q06481 10702673 MGI:88047 RGD:2128 104776 I02.016 HGNC:598 "ENST00000338167.10|NM_001142276.2" +HGNC:597 APLP1 amyloid beta precursor like protein 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 APLP "amyloid-like protein 1|amyloid precursor-like protein 1" amyloid beta (A4) precursor-like protein 1 1992-06-18 2016-01-21 2023-01-20 333 ENSG00000105290 OTTHUMG00000180692 uc002ocf.4 U48437 NM_001024807 "CCDS92600|CCDS32997" P51693 8432545 MGI:88046 RGD:69257 104775 HGNC:597 "ENST00000221891.9|NM_001024807.3" +HGNC:598 APLP2 amyloid beta precursor like protein 2 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 APPH APPL2 amyloid beta (A4) precursor-like protein 2 1993-06-23 2016-01-21 2023-01-20 334 ENSG00000084234 OTTHUMG00000165767 uc010sby.3 L19597 NM_001642 "CCDS44775|CCDS44773|CCDS44774|CCDS58196|CCDS8486" Q06481 10702673 MGI:88047 RGD:2128 104776 I02.016 HGNC:598 "ENST00000338167.10|NM_001142276.2" HGNC:13238 APMAP adipocyte plasma membrane associated protein protein-coding gene gene with protein product Approved 20p11.21 20p11.21 BSCv C20orf3 chromosome 20 open reading frame 3 2000-09-19 2012-07-20 2012-07-20 2023-01-20 57136 ENSG00000101474 OTTHUMG00000032107 uc002wty.4 AB033767 NM_020531 CCDS13166 Q9HDC9 "10945474|11583587|20552250" MGI:1919131 RGD:1308874 615884 HGNC:13238 "ENST00000217456.3|NM_020531.3" HGNC:600 APOA1 apolipoprotein A1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 apolipoprotein A-I Apolipoproteins 405 2001-06-22 2016-04-26 2023-01-20 335 ENSG00000118137 OTTHUMG00000046112 uc001ppv.2 X02162 NM_000039 CCDS8378 P02647 MGI:88049 RGD:2130 LRG_767|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_767.xml 107680 121380 HGNC:600 "ENST00000236850.5|NM_000039.3" HGNC:600 HGNC:40079 APOA1-AS APOA1 antisense RNA non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Antisense RNAs 1987 2014-01-04 2016-11-24 104326055 ENSG00000235910 OTTHUMG00000150649 DA327409 NR_126362 24388749 620112 apoas1 APOA1-AS HGNC:40079 @@ -1306,13 +1306,13 @@ HGNC:605 APOBEC2 apolipoprotein B mRNA editing enzyme catalytic subunit 2 protei HGNC:17343 APOBEC3A apolipoprotein B mRNA editing enzyme catalytic subunit 3A protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "ARP3|PHRBN" phorbolin I apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2023-01-20 200315 ENSG00000128383 OTTHUMG00000151004 uc011aoc.3 U03891 NM_145699 CCDS13981 P31941 "11863358|10469298" 607109 HGNC:17343 "ENST00000249116.7|NM_145699.4" HGNC:44196 APOBEC3A_B APOBEC3A and APOBEC3B deletion hybrid protein-coding gene gene with protein product Approved 22q13 alternate reference locus 22q13 alternate reference locus Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2012-10-13 2014-01-23 100913187 GL383583 NM_001193289 "19788695|17447845" HGNC:43835 APOBEC3AP1 apolipoprotein B mRNA editing enzyme catalytic subunit 3A pseudogene 1 pseudogene pseudogene Approved 4q33 04q33 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A pseudogene 1 2012-03-23 2016-03-07 2016-03-07 105377532 ENSG00000248822 OTTHUMG00000160902 NG_046667 PGOHUM00000259961 HGNC:43835 -HGNC:17352 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "PHRBNL|FLJ21201" phorbolin 3 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B "Apolipoprotein B mRNA editing enzyme catalytic subunits|Minor histocompatibility antigens" "406|870" 2001-12-12 2016-03-07 2023-01-20 9582 ENSG00000179750 OTTHUMG00000151085 uc003awo.3 AK024854 NM_004900 "CCDS13982|CCDS58807" Q9UH17 "11863358|10469298" MGI:1933111 APOBEC3B 607110 HGNC:17352 "ENST00000333467.4|NM_004900.5" +HGNC:17352 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "PHRBNL|FLJ21201" phorbolin 3 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B "Apolipoprotein B mRNA editing enzyme catalytic subunits|Minor histocompatibility antigens" "406|870" 2001-12-12 2016-03-07 2023-01-20 9582 ENSG00000179750 OTTHUMG00000151085 uc003awo.3 AK024854 NM_004900 "CCDS58807|CCDS13982" Q9UH17 "11863358|10469298" MGI:1933111 APOBEC3B 607110 HGNC:17352 "ENST00000333467.4|NM_004900.5" HGNC:43836 APOBEC3B-AS1 APOBEC3B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 APOBEC3B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-23 2012-08-15 2012-10-12 100874530 ENSG00000249310 OTTHUMG00000151083 uc032qpc.2 CX754295 NR_104187 APOBEC3B-AS1 HGNC:43836 HGNC:17353 APOBEC3C apolipoprotein B mRNA editing enzyme catalytic subunit 3C protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "APOBEC1L|PBI|bK150C2.3|ARDC2|ARDC4|ARP5" apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2023-01-20 27350 ENSG00000244509 OTTHUMG00000151087 uc003awr.4 AF165520 NM_014508 CCDS13983 Q9NRW3 11863358 MGI:1933111 607750 HGNC:17353 "ENST00000361441.5|NM_014508.3" -HGNC:17354 APOBEC3D apolipoprotein B mRNA editing enzyme catalytic subunit 3D protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "ARP6|APOBEC3DE" APOBEC3E "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D" Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2023-01-20 140564 ENSG00000243811 OTTHUMG00000192151 uc062ejh.1 BF832090 NM_152426 "CCDS87027|CCDS46709" Q96AK3 11863358 MGI:1933111 609900 HGNC:17354 "ENST00000216099.13|NM_152426.4" -HGNC:17356 APOBEC3F apolipoprotein B mRNA editing enzyme catalytic subunit 3F protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "ARP8|BK150C2.4.MRNA|KA6" apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2023-01-20 200316 ENSG00000128394 OTTHUMG00000151080 uc003aww.4 BC038808 NM_145298 "CCDS33648|CCDS33649" Q8IUX4 "11863358|17121840" MGI:1933111 608993 HGNC:17356 "ENST00000308521.10|NM_145298.6" +HGNC:17354 APOBEC3D apolipoprotein B mRNA editing enzyme catalytic subunit 3D protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "ARP6|APOBEC3DE" APOBEC3E "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D" Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2023-01-20 140564 ENSG00000243811 OTTHUMG00000192151 uc062ejh.1 BF832090 NM_152426 "CCDS46709|CCDS87027" Q96AK3 11863358 MGI:1933111 609900 HGNC:17354 "ENST00000216099.13|NM_152426.4" +HGNC:17356 APOBEC3F apolipoprotein B mRNA editing enzyme catalytic subunit 3F protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "ARP8|BK150C2.4.MRNA|KA6" apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2023-01-20 200316 ENSG00000128394 OTTHUMG00000151080 uc003aww.4 BC038808 NM_145298 "CCDS33649|CCDS33648" Q8IUX4 "11863358|17121840" MGI:1933111 608993 HGNC:17356 "ENST00000308521.10|NM_145298.6" HGNC:17357 APOBEC3G apolipoprotein B mRNA editing enzyme catalytic subunit 3G protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "CEM15|MDS019|dJ494G10.1|FLJ12740|bK150C2.7" DNA dC->dU-editing enzyme APOBEC-3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2023-01-20 60489 ENSG00000239713 OTTHUMG00000151081 uc021wpr.2 AF182420 NM_021822 CCDS13984 Q9HC16 11863358 MGI:1933111 607113 HGNC:17357 "ENST00000407997.4|NM_021822.4" -HGNC:24100 APOBEC3H apolipoprotein B mRNA editing enzyme catalytic subunit 3H protein-coding gene gene with protein product Approved 22q13.1 22q13.1 ARP10 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2007-01-26 2016-03-07 2023-01-20 164668 ENSG00000100298 OTTHUMG00000151082 uc021wpu.2 BC069023 NM_181773 "CCDS54532|CCDS54530|CCDS54531|CCDS13985" Q6NTF7 16571802 RGD:1307800 610976 HGNC:24100 "ENST00000442487.8|NM_181773.5" +HGNC:24100 APOBEC3H apolipoprotein B mRNA editing enzyme catalytic subunit 3H protein-coding gene gene with protein product Approved 22q13.1 22q13.1 ARP10 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2007-01-26 2016-03-07 2023-01-20 164668 ENSG00000100298 OTTHUMG00000151082 uc021wpu.2 BC069023 NM_181773 "CCDS54530|CCDS54531|CCDS13985|CCDS54532" Q6NTF7 16571802 RGD:1307800 610976 HGNC:24100 "ENST00000442487.8|NM_181773.5" HGNC:32152 APOBEC4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "MGC26594|FLJ25691|RP1-127C7.4" C1orf169 "chromosome 1 open reading frame 169|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)" Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2005-07-20 2005-10-27 2016-03-07 2023-01-20 403314 ENSG00000173627 OTTHUMG00000035459 uc001gqn.4 BC021711 NM_203454 CCDS1358 Q8WW27 16082223 MGI:1918531 RGD:1560256 609908 HGNC:32152 "ENST00000308641.6|NM_203454.3" HGNC:24087 APOBR apolipoprotein B receptor protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "APOB48R|APOB100R" "apolipoprotein B48 receptor|apolipoprotein B100 receptor" 2011-02-14 2023-01-20 55911 ENSG00000184730 OTTHUMG00000172705 uc002dqb.2 AK025123 NM_182804 CCDS58442 Q0VD83 10852956 MGI:2176230 RGD:1565169 605220 HGNC:24087 "ENST00000564831.6|NM_018690.4" HGNC:607 APOC1 apolipoprotein C1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 apolipoprotein C-I Apolipoproteins 405 2001-06-22 2016-04-26 2023-01-20 341 ENSG00000130208 OTTHUMG00000180844 uc002pac.2 X00570 NM_001321065 "CCDS12648|CCDS92639" P02654 MGI:88053 RGD:2134 107710 HGNC:607 "ENST00000592535.6|NM_001645.5" @@ -1325,13 +1325,13 @@ HGNC:612 APOD apolipoprotein D protein-coding gene gene with protein product App HGNC:613 APOE apolipoprotein E protein-coding gene gene with protein product Approved 19q13.32 19q13.32 AD2 Alzheimer disease 2 (APOE*E4-associated, late onset) Apolipoproteins 405 2001-06-22 2023-01-20 348 ENSG00000130203 OTTHUMG00000128901 uc002pab.4 K00396 NM_000041 CCDS12647 P02649 10662539 MGI:88057 RGD:2138 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 107741 121390 HGNC:613 "ENST00000252486.9|NM_000041.4" HGNC:613 HGNC:615 APOF apolipoprotein F protein-coding gene gene with protein product Approved 12q13.3 12q13.3 Apolipoproteins 405 1994-11-16 2023-01-20 319 ENSG00000175336 OTTHUMG00000170715 uc001sle.2 L27050 NM_001638 CCDS44923 Q13790 8093033 MGI:104539 RGD:1560713 107760 HGNC:615 "ENST00000398189.4|NM_001638.4" HGNC:616 APOH apolipoprotein H protein-coding gene gene with protein product Approved 17q24.2 17q24.2 BG beta-2-glycoprotein I B2G1 apolipoprotein H (beta-2-glycoprotein I) "Apolipoproteins|Sushi domain containing" "405|1179" 1987-09-11 2015-12-17 2023-01-20 350 ENSG00000091583 OTTHUMG00000179530 uc002jfn.5 NM_000042 CCDS11663 P02749 1582254 MGI:88058 RGD:1310625 138700 HGNC:616 "ENST00000205948.11|NM_000042.3" -HGNC:618 APOL1 apolipoprotein L1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 APOL apolipoprotein L Apolipoproteins 405 1998-12-03 2015-11-13 2023-01-20 8542 ENSG00000100342 OTTHUMG00000030427 uc011amq.3 AF019225 NM_145343 "CCDS13925|CCDS46702|CCDS13926" O14791 "9325276|11374903|16020735" "MGI:1919148|MGI:2444921|MGI:3036238|MGI:3036248|MGI:3043522|MGI:3606001|MGI:3649094" LRG_169|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_169.xml 603743 240672 HGNC:618 "ENST00000397278.8|NM_003661.4" HGNC:618 +HGNC:618 APOL1 apolipoprotein L1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 APOL apolipoprotein L Apolipoproteins 405 1998-12-03 2015-11-13 2023-01-20 8542 ENSG00000100342 OTTHUMG00000030427 uc011amq.3 AF019225 NM_145343 "CCDS13926|CCDS46702|CCDS13925" O14791 "9325276|11374903|16020735" "MGI:1919148|MGI:2444921|MGI:3036238|MGI:3036248|MGI:3043522|MGI:3606001|MGI:3649094" LRG_169|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_169.xml 603743 240672 HGNC:618 "ENST00000397278.8|NM_003661.4" HGNC:618 HGNC:619 APOL2 apolipoprotein L2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 APOL-II apolipoprotein L-II Apolipoproteins 405 1999-10-29 2015-12-15 2023-01-20 23780 ENSG00000128335 OTTHUMG00000150634 uc003apa.4 AF324224 NM_145637 CCDS43014 Q9BQE5 "10591208|11374903|11944986" "MGI:1919148|MGI:1920912|MGI:1923011|MGI:2444921|MGI:3036238|MGI:3036248|MGI:3043522|MGI:3583950|MGI:3606001|MGI:3704456" RGD:1309591 607252 HGNC:619 "ENST00000358502.10|NM_030882.4" HGNC:619 HGNC:14868 APOL3 apolipoprotein L3 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "CG12-1|APOLIII" Apolipoproteins 405 2001-03-21 2015-12-15 2023-01-20 80833 ENSG00000128284 OTTHUMG00000150632 uc003aot.4 AF305227 NM_145641 "CCDS13922|CCDS13923|CCDS13924" O95236 11374903 MGI:2444921 RGD:1306480 607253 HGNC:14868 "ENST00000424878.4|NM_145639.2" -HGNC:14867 APOL4 apolipoprotein L4 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 APOLIV Apolipoproteins 405 2001-03-21 2015-12-15 2023-01-20 80832 ENSG00000100336 OTTHUMG00000150630 uc032qnf.2 AF305226 NM_145660 "CCDS93158|CCDS74851|CCDS74852" Q9BPW4 11374903 MGI:2444921 RGD:1562332 607254 HGNC:14867 "ENST00000683024.1|NM_001386885.1" +HGNC:14867 APOL4 apolipoprotein L4 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 APOLIV Apolipoproteins 405 2001-03-21 2015-12-15 2023-01-20 80832 ENSG00000100336 OTTHUMG00000150630 uc032qnf.2 AF305226 NM_145660 "CCDS74851|CCDS74852|CCDS93158" Q9BPW4 11374903 MGI:2444921 RGD:1562332 607254 HGNC:14867 "ENST00000683024.1|NM_001386885.1" HGNC:14869 APOL5 apolipoprotein L5 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 APOLV Apolipoproteins 405 2001-03-21 2015-12-15 2023-01-20 80831 ENSG00000128313 OTTHUMG00000150588 uc003aof.4 AY014878 NM_030642 CCDS13920 Q9BWW9 11374903 607255 HGNC:14869 "ENST00000249044.2|NM_030642.1" HGNC:14870 APOL6 apolipoprotein L6 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "APOL-VI|APOLVI" Apolipoproteins 405 2001-03-21 2015-12-15 2023-01-20 80830 ENSG00000221963 OTTHUMG00000150615 uc003aoe.4 AY014879 NM_030641 CCDS13919 Q9BWW8 "11374903|15671246" MGI:1919189 607256 HGNC:14870 "ENST00000409652.5|NM_030641.4" -HGNC:25268 APOLD1 apolipoprotein L domain containing 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "FLJ25138|DKFZP434F0318" MicroRNA protein coding host genes 1691 2006-01-23 2006-01-23 2023-01-20 81575 ENSG00000178878 OTTHUMG00000153561 uc001raw.5 AL136783 NM_030817 "CCDS44833|CCDS8654" Q96LR9 11230166 MGI:2685921 RGD:1303123 612456 HGNC:25268 "ENST00000356591.5|NM_030817.3" +HGNC:25268 APOLD1 apolipoprotein L domain containing 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "FLJ25138|DKFZP434F0318" MicroRNA protein coding host genes 1691 2006-01-23 2006-01-23 2023-01-20 81575 ENSG00000178878 OTTHUMG00000153561 uc001raw.5 AL136783 NM_030817 "CCDS8654|CCDS44833" Q96LR9 11230166 MGI:2685921 RGD:1303123 612456 HGNC:25268 "ENST00000356591.5|NM_030817.3" HGNC:13916 APOM apolipoprotein M protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G3a|NG20|Apo-M" "Apolipoproteins|Lipocalins" "405|631" 2002-08-02 2023-01-20 55937 ENSG00000204444 OTTHUMG00000031250 uc003nvl.4 AJ245434 NM_019101 "CCDS4710|CCDS59004" O95445 "10531326|11418126" MGI:1930124 RGD:620773 606907 HGNC:13916 "ENST00000375916.4|NM_019101.3" HGNC:53942 APONP apolipoprotein N, pseudogene pseudogene pseudogene Approved 12q13.3 12q13.3 2018-06-19 2018-06-19 100419033 ENSG00000274823 OTTHUMG00000188037 NG_024021 15256496 MGI:88931 PGOHUM00000291363 HGNC:53942 HGNC:28727 APOO apolipoprotein O protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "MGC4825|My025|Mic23|MIC26|MICOS26" mitochondrial contact site and cristae organizing system subunit 26 FAM121B family with sequence similarity 121B "Apolipoproteins|Mitochondrial contact site and cristae organizing system subunits" "405|1616" 2006-07-11 2007-01-17 2007-01-17 2023-01-20 79135 ENSG00000184831 OTTHUMG00000021259 uc004dax.4 BC016814 NM_024122 CCDS14208 Q9BUR5 "16956892|25764979|25781180" MGI:1915566 RGD:1565289 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/APOO 300753 HGNC:28727 "ENST00000379226.9|NM_024122.5" HGNC:28727 @@ -1341,26 +1341,26 @@ HGNC:48740 APOOP2 apolipoprotein O pseudogene 2 pseudogene pseudogene Approved 3 HGNC:48741 APOOP3 apolipoprotein O pseudogene 3 pseudogene pseudogene Approved 12q14.3 12q14.3 2013-06-07 2013-06-07 100131528 ENSG00000255700 OTTHUMG00000168865 NG_012898 PGOHUM00000239834 HGNC:48741 HGNC:48742 APOOP4 apolipoprotein O pseudogene 4 pseudogene pseudogene Approved 4q13.2 04q13.2 2013-06-07 2013-06-07 100128725 ENSG00000248122 OTTHUMG00000160819 NG_012897 PGOHUM00000245560 HGNC:48742 HGNC:48743 APOOP5 apolipoprotein O pseudogene 5 pseudogene pseudogene Approved 16q21 16q21 2013-06-07 2015-01-29 644649 ENSG00000260240 OTTHUMG00000173108 NR_028471 PGOHUM00000293621 HGNC:48743 -HGNC:620 APP amyloid beta precursor protein protein-coding gene gene with protein product Approved 21q21.3 21q21.3 alpha-sAPP peptidase nexin-II AD1 "Alzheimer disease|amyloid beta (A4) precursor protein" Receptor ligands 542 1986-01-01 2016-01-14 2023-01-20 351 ENSG00000142192 OTTHUMG00000078438 uc002ylz.4 M15533 NM_000484 "CCDS46639|CCDS46638|CCDS13577|CCDS33523|CCDS56211|CCDS56213|CCDS56212|CCDS13576" P05067 1679289 MGI:88059 RGD:2139 Alzheimer Disease & Frontotemporal Dementia Mutation Database|http://www.molgen.ua.ac.be/ADMutations/ 104760 121393 I02.015 ligandId:4865 HGNC:620 "ENST00000346798.8|NM_000484.4" HGNC:620 +HGNC:620 APP amyloid beta precursor protein protein-coding gene gene with protein product Approved 21q21.3 21q21.3 alpha-sAPP peptidase nexin-II AD1 "Alzheimer disease|amyloid beta (A4) precursor protein" Receptor ligands 542 1986-01-01 2016-01-14 2023-01-20 351 ENSG00000142192 OTTHUMG00000078438 uc002ylz.4 M15533 NM_000484 "CCDS46638|CCDS13577|CCDS33523|CCDS56211|CCDS56213|CCDS56212|CCDS13576|CCDS46639" P05067 1679289 MGI:88059 RGD:2139 Alzheimer Disease & Frontotemporal Dementia Mutation Database|http://www.molgen.ua.ac.be/ADMutations/ 104760 121393 I02.015 ligandId:4865 HGNC:620 "ENST00000346798.8|NM_000484.4" HGNC:620 HGNC:55075 APP-DT APP divergent transcript non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 Divergent transcripts 1990 2020-06-12 2020-11-11 118568803 ENSG00000273492 HGNC:56009 APPAT atherosclerotic plaque pathogenesis associated transcript non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 AC092683.1 LINC02969 long intergenic non-protein coding RNA 2969 Long non-coding RNAs with non-systematic symbols 1992 2021-12-01 2022-07-20 2022-07-20 2022-07-20 100506123 ENSG00000230606 NR_130704 29372117 HGNC:622 APPBP2 amyloid beta precursor protein binding protein 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "KIAA0228|Hs.84084|PAT1" protein interacting with APP tail 1 "amyloid beta precursor protein (cytoplasmic tail)-binding protein 2|amyloid beta precursor protein (cytoplasmic tail) binding protein 2" 1999-06-25 2016-01-21 2023-01-20 10513 ENSG00000062725 OTTHUMG00000180048 uc002iys.3 AF017782 NM_006380 CCDS32699 Q92624 9843960 MGI:1914134 RGD:1306488 605324 HGNC:622 "ENST00000083182.8|NM_006380.5" HGNC:55423 APPBP2-DT APPBP2 divergent transcript non-coding RNA RNA, long non-coding Approved 17q23.2 17q23.2 Divergent transcripts 1990 2021-01-07 2021-11-11 120017341 ENSG00000259349 HGNC:24035 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 APPL DCC-interacting protein 13-alpha adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 BAR-PH domain containing 1291 2007-01-26 2016-03-14 2023-01-20 26060 ENSG00000157500 OTTHUMG00000133756 uc003dio.4 AB037849 NM_012096 CCDS2882 Q9UKG1 "10490823|17030088" MGI:1920243 RGD:1309388 604299 436880 HGNC:24035 "ENST00000288266.8|NM_012096.3" HGNC:24035 -HGNC:18242 APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ10659|DIP13B" DCC-interacting protein 13-beta adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 BAR-PH domain containing 1291 2007-01-26 2016-03-14 2023-01-20 55198 ENSG00000136044 OTTHUMG00000169853 uc001tlf.2 AY113704 NM_018171 "CCDS58276|CCDS9101|CCDS58275" Q8NEU8 "11431708|17030088" MGI:2384914 RGD:1563028 606231 HGNC:18242 "ENST00000258530.8|NM_018171.5" +HGNC:18242 APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ10659|DIP13B" DCC-interacting protein 13-beta adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 BAR-PH domain containing 1291 2007-01-26 2016-03-14 2023-01-20 55198 ENSG00000136044 OTTHUMG00000169853 uc001tlf.2 AY113704 NM_018171 "CCDS58276|CCDS58275|CCDS9101" Q8NEU8 "11431708|17030088" MGI:2384914 RGD:1563028 606231 HGNC:18242 "ENST00000258530.8|NM_018171.5" HGNC:24082 APRG1 APRG1 tumor suppressor candidate non-coding RNA RNA, long non-coding Approved 3p22.2 03p22.2 AP20 region protein C3orf35 chromosome 3 open reading frame 35 Long non-coding RNAs with non-systematic symbols 1992 2006-01-02 2021-06-10 2021-06-10 2023-03-15 339883 ENSG00000198590 OTTHUMG00000155923 uc062ida.1 AJ493599 NR_126512 Q8IVJ8 12543795 611429 HGNC:24082 HGNC:626 APRT adenine phosphoribosyltransferase protein-coding gene gene with protein product Approved 16q24.3 16q24.3 2001-06-22 2023-01-20 353 ENSG00000198931 OTTHUMG00000175454 uc002flv.4 NM_000485 "CCDS32511|CCDS45546" P07741 MGI:88061 RGD:1307758 102600 121400 2.4.2.7 HGNC:626 "ENST00000378364.8|NM_000485.3" HGNC:626 HGNC:44173 APTR Alu-mediated CDKN1A/p21 transcriptional regulator non-coding RNA RNA, long non-coding Approved 7q11.23 07q11.23 RSBN1L-AS1 "RSBN1L antisense RNA 1 (non-protein coding)|Alu-mediated CDKN1A/p21 transcriptional regulator (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2012-06-30 2014-04-22 2018-05-16 2018-05-16 100505854 ENSG00000214293 OTTHUMG00000162596 AF290475 NR_038361 24748121 RGD:9685233 616048 APTR HGNC:44173 -HGNC:15984 APTX aprataxin protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "FLJ20157|AOA|AOA1|EAOH|EOAHA" AXA1 ataxia 1, early onset with hypoalbuminemia Histidine triad superfamily 1811 2001-07-16 2003-04-03 2023-03-15 54840 ENSG00000137074 OTTHUMG00000019759 uc064snf.1 AK000164 NM_001368995 "CCDS94395|CCDS6532|CCDS47956|CCDS47957|CCDS75827" Q7Z2E3 "11586299|11586300" MGI:1913658 RGD:628740 606350 121402 HGNC:15984 "ENST00000379817.7|NM_001195248.2" HGNC:15984 +HGNC:15984 APTX aprataxin protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "FLJ20157|AOA|AOA1|EAOH|EOAHA" AXA1 ataxia 1, early onset with hypoalbuminemia Histidine triad superfamily 1811 2001-07-16 2003-04-03 2023-03-15 54840 ENSG00000137074 OTTHUMG00000019759 uc064snf.1 AK000164 NM_001368995 "CCDS47957|CCDS6532|CCDS94395|CCDS75827|CCDS47956" Q7Z2E3 "11586299|11586300" MGI:1913658 RGD:628740 606350 121402 HGNC:15984 "ENST00000379817.7|NM_001195248.2" HGNC:15984 HGNC:633 AQP1 aquaporin 1 (Colton blood group) protein-coding gene gene with protein product Approved 7p14.3 07p14.3 CHIP28 CO "Colton blood group|aquaporin 1 (channel-forming integral protein, 28kDa)|aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)|aquaporin 1" "Aquaporins|Blood group antigens" "305|454" 1993-07-09 2014-01-02 2023-03-15 358 ENSG00000240583 OTTHUMG00000023944 uc003tbv.3 M77829 NM_198098 CCDS5431 P29972 "1722319|3166547" MGI:103201 RGD:2141 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_808|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_808.xml" 107776 objectId:688 HGNC:633 "ENST00000311813.11|NM_198098.4" HGNC:633 HGNC:634 AQP2 aquaporin 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 aquaporin 2 (collecting duct) Aquaporins 305 1993-07-09 2016-01-15 2023-01-20 359 ENSG00000167580 OTTHUMG00000169709 uc001rvn.4 NM_000486 CCDS8792 P41181 7512890 MGI:1096865 RGD:2142 LRG_717|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_717.xml 107777 121410 objectId:689 HGNC:634 "ENST00000199280.4|NM_000486.6" HGNC:634 HGNC:636 AQP3 aquaporin 3 (Gill blood group) protein-coding gene gene with protein product Approved 9p13.3 09p13.3 GIL Gill blood group "aquaporin 3|aquaporin 3 (GIL blood group)" "Aquaporins|Blood group antigens" "305|454" 1994-07-25 2006-02-23 2023-01-20 360 ENSG00000165272 OTTHUMG00000019769 uc003zsx.4 NM_004925 "CCDS87649|CCDS6542" Q92482 7558005 MGI:1333777 RGD:68428 LRG_821|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_821.xml 600170 objectId:690 HGNC:636 "ENST00000297991.6|NM_004925.5" -HGNC:637 AQP4 aquaporin 4 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "MIWC|AQP-4|hAQP4" Mercurial-insensitive water channel Aquaporins 305 1994-07-25 2023-01-20 361 ENSG00000171885 OTTHUMG00000131955 uc002kwa.4 U63622 "NM_001650|NM_004028" "CCDS82244|CCDS92445|CCDS58617|CCDS11889" P55087 7528931 MGI:107387 RGD:2143 600308 objectId:691 HGNC:637 "ENST00000383168.9|NM_001650.7" HGNC:637 +HGNC:637 AQP4 aquaporin 4 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "MIWC|AQP-4|hAQP4" Mercurial-insensitive water channel Aquaporins 305 1994-07-25 2023-01-20 361 ENSG00000171885 OTTHUMG00000131955 uc002kwa.4 U63622 "NM_001650|NM_004028" "CCDS82244|CCDS58617|CCDS11889|CCDS92445" P55087 7528931 MGI:107387 RGD:2143 600308 objectId:691 HGNC:637 "ENST00000383168.9|NM_001650.7" HGNC:637 HGNC:26399 AQP4-AS1 AQP4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 FLJ30507 "C18orf16|CHST9-AS1" "chromosome 18 open reading frame 16|CHST9 antisense RNA 1" Antisense RNAs 1987 2004-04-30 2012-10-03 2012-10-03 2023-03-15 147429 ENSG00000260372 OTTHUMG00000131954 uc010xbm.3 AK055069 NR_026908 35172268 AQP4-AS1 HGNC:26399 HGNC:638 AQP5 aquaporin 5 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 Aquaporins 305 1994-07-25 2023-01-20 362 ENSG00000161798 OTTHUMG00000169710 uc001rvo.4 U46569 NM_001651 CCDS8793 P55064 "8621489|23830519" MGI:106215 RGD:2144 600442 363071 objectId:692 HGNC:638 "ENST00000293599.7|NM_001651.4" HGNC:638 HGNC:55474 AQP5-AS1 AQP5 and AQP2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 "AC025154.2|MIAC" micropeptide inhibiting actin cytoskeleton Antisense RNAs 1987 2021-03-11 2022-11-24 101927318 ENSG00000257588 NR_110590 "32176498|36117171" HGNC:639 AQP6 aquaporin 6 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 AQP2L aquaporin 6, kidney specific Aquaporins 305 1996-08-21 2015-11-27 2023-03-15 363 ENSG00000086159 OTTHUMG00000133548 uc058nuf.1 AL137716 "NM_001652|NM_053286" CCDS31798 Q13520 8812490 MGI:1341204 RGD:71100 601383 objectId:693 HGNC:639 "ENST00000315520.10|NM_001652.4" -HGNC:640 AQP7 aquaporin 7 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "AQP9|AQPap" AQP7L Aquaporins 305 1997-04-10 2023-01-20 364 ENSG00000165269 OTTHUMG00000019773 uc003zst.3 AB006190 NM_001170 "CCDS83356|CCDS6541|CCDS83353|CCDS83354" O14520 9252401 MGI:1314647 RGD:2145 602974 objectId:694 HGNC:640 "ENST00000297988.6|NM_001170.3" +HGNC:640 AQP7 aquaporin 7 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "AQP9|AQPap" AQP7L Aquaporins 305 1997-04-10 2023-01-20 364 ENSG00000165269 OTTHUMG00000019773 uc003zst.3 AB006190 NM_001170 "CCDS83356|CCDS83353|CCDS6541|CCDS83354" O14520 9252401 MGI:1314647 RGD:2145 602974 objectId:694 HGNC:640 "ENST00000297988.6|NM_001170.3" HGNC:53895 AQP7B aquaporin 7B protein-coding gene gene with protein product Approved 2q11.1 02q11.1 2021-11-10 2023-01-20 100509620 ENSG00000259916 OTTHUMG00000175552 NM_001382497 CCDS92802 A0A075B734 "ENST00000561882.2|NM_001382497.1" HGNC:32048 AQP7P1 aquaporin 7 pseudogene 1 pseudogene pseudogene Approved 9q13 09q13 2005-08-09 2016-10-05 375719 ENSG00000186466 OTTHUMG00000013312 XM_372110 11952783 PGOHUM00000236163 HGNC:32048 HGNC:32049 AQP7P2 aquaporin 7 pseudogene 2 pseudogene pseudogene Approved 9q13 09q13 2005-08-09 2016-10-05 389756 ENSG00000181997 OTTHUMG00000013329 XM_497059 11952783 PGOHUM00000236181 HGNC:32049 @@ -1368,18 +1368,18 @@ HGNC:31976 AQP7P3 aquaporin 7 pseudogene 3 pseudogene pseudogene Approved 9q21.1 HGNC:32056 AQP7P4 aquaporin 7 pseudogene 4 pseudogene pseudogene Approved 9q13 09q13 2005-08-09 2014-11-18 100132938 ENSG00000176115 OTTHUMG00000013311 NG_021659 PGOHUM00000260514 HGNC:32056 HGNC:51836 AQP7P5 aquaporin 7 pseudogene 5 pseudogene pseudogene Approved 9p11.2 09p11.2 2015-07-31 2018-05-16 102724655 ENSG00000278122 OTTHUMG00000013285 NG_055548 PGOHUM00000303815 HGNC:51836 HGNC:642 AQP8 aquaporin 8 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 Aquaporins 305 1997-06-09 2023-01-20 343 ENSG00000103375 OTTHUMG00000097013 uc002doc.4 BC040630 NM_001169 CCDS10626 O94778 "9806845|10393433" MGI:1195271 RGD:2146 603750 469956 objectId:695 HGNC:642 "ENST00000219660.6|NM_001169.3" -HGNC:643 AQP9 aquaporin 9 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "SSC1|HsT17287" Aquaporins 305 1997-08-28 2023-01-20 366 ENSG00000103569 OTTHUMG00000132631 uc002aez.3 AF016495 NM_020980 "CCDS10165|CCDS81887" O43315 MGI:1891066 RGD:68433 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=AQP9 602914 objectId:696 HGNC:643 "ENST00000219919.9|NM_020980.5" +HGNC:643 AQP9 aquaporin 9 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "SSC1|HsT17287" Aquaporins 305 1997-08-28 2023-01-20 366 ENSG00000103569 OTTHUMG00000132631 uc002aez.3 AF016495 NM_020980 "CCDS81887|CCDS10165" O43315 MGI:1891066 RGD:68433 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=AQP9 602914 objectId:696 HGNC:643 "ENST00000219919.9|NM_020980.5" HGNC:16029 AQP10 aquaporin 10 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Aquaporins 305 2001-07-04 2023-01-20 89872 ENSG00000143595 OTTHUMG00000035980 uc001feu.3 AF159174 NM_080429 CCDS1065 Q96PS8 11573934 RGD:1596307 606578 objectId:697 HGNC:16029 "ENST00000324978.8|NM_080429.3" HGNC:19940 AQP11 aquaporin 11 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 AQPX1 Aquaporins 305 2002-12-09 2023-01-20 282679 ENSG00000178301 OTTHUMG00000165194 uc001oyj.4 AB028147 NM_173039 CCDS8251 Q8NBQ7 16107722 MGI:1913583 RGD:628763 609914 objectId:3062 HGNC:19940 "ENST00000313578.4|NM_173039.3" HGNC:19940 HGNC:19941 AQP12A aquaporin 12A protein-coding gene gene with protein product Approved 2q37.3 02q37.3 AQP12 aquaporin 12 Aquaporins 305 2002-12-09 2005-05-26 2005-05-26 2023-03-15 375318 ENSG00000184945 OTTHUMG00000183906 uc061ujk.1 AB040748 NM_198998 Q8IXF9 MGI:2664636 RGD:1562727 609789 HGNC:19941 "ENST00000337801.9|NM_198998.3" HGNC:6096 AQP12B aquaporin 12B protein-coding gene gene with protein product Approved 2q37.3 02q37.3 INSSA3 insulin synthesis associated 3 Aquaporins 305 2000-03-29 2005-05-26 2005-05-26 2023-01-20 653437 ENSG00000185176 OTTHUMG00000152263 uc010fzj.4 BC041460 NM_001102467 CCDS46560 A6NM10 MGI:2664636 HGNC:6096 "ENST00000407834.4|NM_001102467.2" HGNC:29513 AQR aquarius intron-binding spliceosomal factor protein-coding gene gene with protein product Approved 15q14 15q14 "KIAA0560|fSAP164|IBP160" functional spliceosome-associated protein 164 aquarius homolog (mouse) "UPF1 like RNA helicases|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1169|1507|1508|1510|1516" 2004-06-24 2013-09-12 2023-01-20 9716 ENSG00000021776 OTTHUMG00000172257 uc001ziv.4 AB011132 NM_014691 CCDS42013 O60306 "9626505|16949364" MGI:1276102 RGD:1306223 610548 HGNC:29513 "ENST00000156471.10|NM_014691.3" -HGNC:644 AR androgen receptor protein-coding gene gene with protein product Approved Xq12 Xq12 "AIS|NR3C4|SMAX1|HUMARA" "testicular feminization|Kennedy disease" "DHTR|SBMA" "dihydrotestosterone receptor|spinal and bulbar muscular atrophy" Nuclear receptor subfamily 3 group C 2076 1986-01-01 2008-08-07 2023-03-15 367 ENSG00000169083 OTTHUMG00000021740 uc004dwu.3 M20132 NM_000044 "CCDS87754|CCDS14387|CCDS87755" P10275 "3353726|3377788" MGI:88064 RGD:2147 "Androgen Receptor|http://androgendb.mcgill.ca/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AR|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_1406|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1406.xml" AR 313700 132285 objectId:628 HGNC:644 "ENST00000374690.9|NM_000044.6" HGNC:644 -HGNC:646 ARAF A-Raf proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 ARAF1 v-raf murine sarcoma 3611 viral oncogene homolog 1 "Mitogen-activated protein kinase kinase kinases|RAF family" "654|1157" 1986-01-01 2005-01-19 2014-06-26 2023-03-15 369 ENSG00000078061 OTTHUMG00000021446 uc064yvp.1 X04790 NM_001256196 "CCDS35232|CCDS59164" P10398 MGI:88065 RGD:2148 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARAF 311010 objectId:1933 HGNC:646 "ENST00000377045.9|NM_001654.5" HGNC:646 +HGNC:644 AR androgen receptor protein-coding gene gene with protein product Approved Xq12 Xq12 "AIS|NR3C4|SMAX1|HUMARA" "testicular feminization|Kennedy disease" "DHTR|SBMA" "dihydrotestosterone receptor|spinal and bulbar muscular atrophy" Nuclear receptor subfamily 3 group C 2076 1986-01-01 2008-08-07 2023-03-15 367 ENSG00000169083 OTTHUMG00000021740 uc004dwu.3 M20132 NM_000044 "CCDS14387|CCDS87755|CCDS87754" P10275 "3353726|3377788" MGI:88064 RGD:2147 "Androgen Receptor|http://androgendb.mcgill.ca/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AR|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_1406|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1406.xml" AR 313700 132285 objectId:628 HGNC:644 "ENST00000374690.9|NM_000044.6" HGNC:644 +HGNC:646 ARAF A-Raf proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 ARAF1 v-raf murine sarcoma 3611 viral oncogene homolog 1 "Mitogen-activated protein kinase kinase kinases|RAF family" "654|1157" 1986-01-01 2005-01-19 2014-06-26 2023-03-15 369 ENSG00000078061 OTTHUMG00000021446 uc064yvp.1 X04790 NM_001256196 "CCDS59164|CCDS35232" P10398 MGI:88065 RGD:2148 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARAF 311010 objectId:1933 HGNC:646 "ENST00000377045.9|NM_001654.5" HGNC:646 HGNC:50824 ARAFP1 ARAF pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2014-06-26 2015-07-30 100421741 ENSG00000231264 OTTHUMG00000188127 NG_026477 PGOHUM00000232806 HGNC:50824 HGNC:647 ARAFP2 ARAF pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 PKS1 "ARAF2|ARAFPS|ARAF2P" "v-raf murine sarcoma 3611 viral oncogene homolog pseudogene|v-raf murine sarcoma 3611 viral oncogene homolog 2, pseudogene" 1986-01-01 2014-06-26 2014-06-26 2014-11-19 644000 ENSG00000224368 OTTHUMG00000156379 NG_008381 1505215 PGOHUM00000232787 HGNC:647 HGNC:35474 ARAFP3 ARAF pseudogene 3 pseudogene pseudogene Approved 7q11.21 07q11.21 ARAF3P v-raf murine sarcoma 3611 viral oncogene homolog 3, pseudogene 2009-04-15 2014-06-26 2014-06-26 2014-06-26 285893 ENSG00000227298 OTTHUMG00000156266 AC006455 NG_003157 PGOHUM00000233315 HGNC:35474 -HGNC:16925 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 CENTD2 centaurin, delta 2 "ArfGAPs|Ankyrin repeat domain containing|Pleckstrin homology domain containing|Sterile alpha motif domain containing" "395|403|682|760" 2001-10-29 2008-09-22 2008-09-22 2023-01-20 116985 ENSG00000186635 OTTHUMG00000157102 uc001osu.4 AF411983 NM_001040118 "CCDS8217|CCDS41687|CCDS91531|CCDS44671" Q96P48 11804590 MGI:1916960 RGD:1310385 606646 HGNC:16925 "ENST00000393609.8|NM_001040118.3" +HGNC:16925 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 CENTD2 centaurin, delta 2 "ArfGAPs|Ankyrin repeat domain containing|Pleckstrin homology domain containing|Sterile alpha motif domain containing" "395|403|682|760" 2001-10-29 2008-09-22 2008-09-22 2023-01-20 116985 ENSG00000186635 OTTHUMG00000157102 uc001osu.4 AF411983 NM_001040118 "CCDS91531|CCDS44671|CCDS8217|CCDS41687" Q96P48 11804590 MGI:1916960 RGD:1310385 606646 HGNC:16925 "ENST00000393609.8|NM_001040118.3" HGNC:39993 ARAP1-AS1 ARAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 ARAP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2019-07-12 100874075 ENSG00000256007 OTTHUMG00000167950 uc058fck.1 31173500 ARAP1-AS1 HGNC:39994 ARAP1-AS2 ARAP1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 ARAP1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100506020 ENSG00000245148 OTTHUMG00000167951 uc058fcw.1 NR_146780 ARAP1-AS2 HGNC:39994 HGNC:16924 ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 protein-coding gene gene with protein product Approved 4p14 04p14 PARX CENTD1 centaurin, delta 1 "ArfGAPs|Ankyrin repeat domain containing|Pleckstrin homology domain containing|Sterile alpha motif domain containing" "395|403|682|760" 2001-10-29 2008-09-22 2008-09-22 2023-01-20 116984 ENSG00000047365 OTTHUMG00000097811 uc003gsq.3 AF411982 NM_015230 CCDS3441 Q8WZ64 11804590 MGI:2684416 RGD:1306452 606645 HGNC:16924 "ENST00000303965.9|NM_015230.4" @@ -1403,17 +1403,17 @@ HGNC:37628 ARF4P4 ADP ribosylation factor 4 pseudogene 4 pseudogene pseudogene A HGNC:37629 ARF4P5 ADP ribosylation factor 4 pseudogene 5 pseudogene pseudogene Approved 1p31.1 01p31.1 2009-11-26 2015-11-19 2015-11-19 100316867 NG_016179 HGNC:37629 HGNC:658 ARF5 ADP ribosylation factor 5 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 ARF GTPase family 357 1994-02-01 2015-11-19 2023-01-20 381 ENSG00000004059 OTTHUMG00000023246 uc003vmb.3 NM_001662 CCDS34745 P84085 1993656 MGI:99434 RGD:621278 103188 HGNC:658 "ENST00000000233.10|NM_001662.4" HGNC:659 ARF6 ADP ribosylation factor 6 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 ARF GTPase family 357 1994-02-01 2015-11-19 2023-01-20 382 ENSG00000165527 OTTHUMG00000140296 uc001wxg.5 NM_001663 CCDS9695 P62330 "1993656|10343114" MGI:99435 RGD:621279 600464 HGNC:659 "ENST00000298316.7|NM_001663.4" -HGNC:15852 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ10767|bA261N11.3" ARF1GAP ADP-ribosylation factor 1 GTPase activating protein "ArfGAPs|MicroRNA protein coding host genes" "395|1691" 2001-06-21 2002-08-23 2015-11-19 2023-01-20 55738 ENSG00000101199 OTTHUMG00000032965 uc002yel.5 AK001629 NM_018209 "CCDS13515|CCDS63328|CCDS63327|CCDS13516|CCDS63326" Q8N6T3 11210549 MGI:2183559 RGD:708452 608377 HGNC:15852 "ENST00000370283.9|NM_018209.4" -HGNC:13504 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "IRZ|Zfp289|FLJ14576" ZNF289 zinc finger protein 289, ID1 regulated ArfGAPs 395 2001-11-23 2008-01-09 2015-11-19 2023-01-20 84364 ENSG00000149182 OTTHUMG00000166773 uc001ndt.4 AK027482 NM_032389 "CCDS91467|CCDS7926|CCDS73283" Q8N6H7 "11278321|14690497" MGI:1924288 RGD:1306177 606908 HGNC:13504 "ENST00000524782.6|NM_032389.6" +HGNC:15852 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ10767|bA261N11.3" ARF1GAP ADP-ribosylation factor 1 GTPase activating protein "ArfGAPs|MicroRNA protein coding host genes" "395|1691" 2001-06-21 2002-08-23 2015-11-19 2023-01-20 55738 ENSG00000101199 OTTHUMG00000032965 uc002yel.5 AK001629 NM_018209 "CCDS63327|CCDS13516|CCDS63328|CCDS13515|CCDS63326" Q8N6T3 11210549 MGI:2183559 RGD:708452 608377 HGNC:15852 "ENST00000370283.9|NM_018209.4" +HGNC:13504 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "IRZ|Zfp289|FLJ14576" ZNF289 zinc finger protein 289, ID1 regulated ArfGAPs 395 2001-11-23 2008-01-09 2015-11-19 2023-01-20 84364 ENSG00000149182 OTTHUMG00000166773 uc001ndt.4 AK027482 NM_032389 "CCDS73283|CCDS91467|CCDS7926" Q8N6H7 "11278321|14690497" MGI:1924288 RGD:1306177 606908 HGNC:13504 "ENST00000524782.6|NM_032389.6" HGNC:661 ARFGAP3 ADP ribosylation factor GTPase activating protein 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 ArfGAPs 395 1999-11-19 2002-08-23 2015-11-19 2023-01-20 26286 ENSG00000242247 OTTHUMG00000150718 uc003bdd.3 AK002083 NM_014570 "CCDS14042|CCDS46722" Q9NP61 "10704287|11172815" MGI:1913501 RGD:1560066 612439 HGNC:661 "ENST00000263245.10|NM_014570.5" HGNC:15772 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 8q13.2 08q13.2 "DKFZP434L057|BIG1|ARFGEP1|p200" Brefeldin A-inhibited guanine nucleotide-exchange protein 1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) "Armadillo like helical domain containing|ARFGEF family" "1492|1947" 2004-08-09 2015-11-19 2023-01-20 10565 ENSG00000066777 OTTHUMG00000164626 uc003xxo.2 AF084520 NM_006421 CCDS6199 Q9Y6D6 "10212200|8917509" MGI:2442988 RGD:1560793 604141 HGNC:15772 "ENST00000262215.8|NM_006421.5" HGNC:15772 HGNC:55237 ARFGEF1-DT ARFGEF1 divergent transcript non-coding RNA RNA, long non-coding Approved 8q13.2 08q13.2 AC021321.1 Divergent transcripts 1990 2020-09-16 2023-01-11 102724708 ENSG00000271966 NR_136223 36496537 -HGNC:15853 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 BIG2 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) "A-kinase anchoring proteins|Armadillo like helical domain containing|ARFGEF family" "396|1492|1947" 2001-06-21 2015-11-19 2023-01-20 10564 ENSG00000124198 OTTHUMG00000032687 uc002xtx.5 AF084521 NM_006420 "CCDS93055|CCDS13411" Q9Y6D5 10212200 MGI:2139354 RGD:631430 605371 121412 HGNC:15853 "ENST00000371917.5|NM_006420.3" HGNC:15853 +HGNC:15853 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 BIG2 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) "A-kinase anchoring proteins|Armadillo like helical domain containing|ARFGEF family" "396|1492|1947" 2001-06-21 2015-11-19 2023-01-20 10564 ENSG00000124198 OTTHUMG00000032687 uc002xtx.5 AF084521 NM_006420 "CCDS13411|CCDS93055" Q9Y6D5 10212200 MGI:2139354 RGD:631430 605371 121412 HGNC:15853 "ENST00000371917.5|NM_006420.3" HGNC:15853 HGNC:21213 ARFGEF3 ARFGEF family member 3 protein-coding gene gene with protein product Approved 6q23.3-q24.1 06q23.3-q24.1 "dJ171N11.1|BIG3|PPP1R33" protein phosphatase 1, regulatory subunit 33 "C6orf92|KIAA1244" "chromosome 6 open reading frame 92|KIAA1244" "Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing|ARFGEF family" "694|1492|1947" 2003-11-21 2015-01-26 2015-01-26 2023-01-20 57221 ENSG00000112379 OTTHUMG00000015670 AB033070 NM_020340 CCDS5189 Q5TH69 MGI:106387 RGD:1309903 617411 HGNC:21213 "ENST00000251691.5|NM_020340.5" HGNC:21496 ARFIP1 ADP ribosylation factor interacting protein 1 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 HSU52521 arfaptin 1 AH domain containing 1921 2003-07-21 2015-11-19 2023-01-20 27236 ENSG00000164144 OTTHUMG00000161468 uc003inc.5 U52521 NM_014447 "CCDS34080|CCDS3780" P53367 "9038142|10413101" MGI:1277120 RGD:708401 605928 HGNC:21496 "ENST00000353617.7|NM_001025595.3" -HGNC:17160 ARFIP2 ADP ribosylation factor interacting protein 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 POR1 arfaptin 2 AH domain containing 1921 2003-07-21 2015-11-19 2023-01-20 23647 ENSG00000132254 OTTHUMG00000133406 uc001mdk.4 BC000392 NM_012402 "CCDS73250|CCDS7765|CCDS55739|CCDS55740" P53365 "8670882|9038142" MGI:1924182 RGD:1303204 601638 HGNC:17160 "ENST00000396777.8|NM_001376558.2" -HGNC:662 ARFRP1 ADP ribosylation factor related protein 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "ARP|Arp1|ARL18" ARF GTPase family 357 1999-06-02 2015-11-19 2023-01-20 10139 ENSG00000101246 OTTHUMG00000032993 uc032ppj.2 X91504 NM_001134758 "CCDS68172|CCDS46630|CCDS68173|CCDS13533" Q13795 8530503 MGI:1923938 RGD:621683 604699 HGNC:662 "ENST00000622789.5|NM_001267547.3" -HGNC:663 ARG1 arginase 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 arginase-1 arginase, liver 2001-06-22 2013-05-01 2023-01-20 383 ENSG00000118520 OTTHUMG00000015566 uc003qcp.3 NM_000045 "CCDS59038|CCDS94002|CCDS5145" P05089 22959135 MGI:88070 RGD:2150 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARG1 608313 121415 objectId:1244 3.5.3.1 HGNC:663 "ENST00000368087.8|NM_000045.4" HGNC:663 +HGNC:17160 ARFIP2 ADP ribosylation factor interacting protein 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 POR1 arfaptin 2 AH domain containing 1921 2003-07-21 2015-11-19 2023-01-20 23647 ENSG00000132254 OTTHUMG00000133406 uc001mdk.4 BC000392 NM_012402 "CCDS55740|CCDS7765|CCDS73250|CCDS55739" P53365 "8670882|9038142" MGI:1924182 RGD:1303204 601638 HGNC:17160 "ENST00000396777.8|NM_001376558.2" +HGNC:662 ARFRP1 ADP ribosylation factor related protein 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "ARP|Arp1|ARL18" ARF GTPase family 357 1999-06-02 2015-11-19 2023-01-20 10139 ENSG00000101246 OTTHUMG00000032993 uc032ppj.2 X91504 NM_001134758 "CCDS68172|CCDS13533|CCDS46630|CCDS68173" Q13795 8530503 MGI:1923938 RGD:621683 604699 HGNC:662 "ENST00000622789.5|NM_001267547.3" +HGNC:663 ARG1 arginase 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 arginase-1 arginase, liver 2001-06-22 2013-05-01 2023-01-20 383 ENSG00000118520 OTTHUMG00000015566 uc003qcp.3 NM_000045 "CCDS5145|CCDS94002|CCDS59038" P05089 22959135 MGI:88070 RGD:2150 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARG1 608313 121415 objectId:1244 3.5.3.1 HGNC:663 "ENST00000368087.8|NM_000045.4" HGNC:663 HGNC:664 ARG2 arginase 2 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 arginase, type II 1996-08-06 2013-05-01 2023-01-20 384 ENSG00000081181 OTTHUMG00000171807 uc001xjs.4 D86724 NM_001172 CCDS9785 P78540 "8954792|8898077" MGI:1330806 RGD:2151 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ARG2 107830 objectId:1245 HGNC:664 "ENST00000261783.4|NM_001172.4" HGNC:30146 ARGFX arginine-fifty homeobox protein-coding gene gene with protein product Approved 3q13.33 03q13.33 PRD class homeoboxes and pseudogenes 521 2005-05-05 2023-01-20 503582 ENSG00000186103 OTTHUMG00000159395 uc062myc.1 NM_001012659 CCDS33834 A6NJG6 "17005330|20565723" 611164 8418 HGNC:30146 "ENST00000334384.5|NM_001012659.2" HGNC:17252 ARGFXP1 arginine-fifty homeobox pseudogene 1 pseudogene pseudogene Approved 5q23.2 05q23.2 PRD class homeoboxes and pseudogenes 521 2005-05-05 2017-10-25 503583 ENSG00000240058 OTTHUMG00000159399 NG_004853 8353 PGOHUM00000301107 HGNC:17252 @@ -1424,49 +1424,49 @@ HGNC:674 ARHGAP4 Rho GTPase activating protein 4 protein-coding gene gene with p HGNC:675 ARHGAP5 Rho GTPase activating protein 5 protein-coding gene gene with protein product Approved 14q12 14q12 "RhoGAP5|p190-B|p190BRhoGAP" GFI2 growth factor independent 2 Rho GTPase activating proteins 721 1997-08-28 2023-01-20 394 ENSG00000100852 OTTHUMG00000170589 uc001wrn.3 U17032 NM_001030055 "CCDS32062|CCDS45095" Q13017 8537347 MGI:1332637 RGD:1308507 602680 HGNC:675 "ENST00000345122.8|NM_001030055.2" HGNC:20279 ARHGAP5-AS1 ARHGAP5 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 14q12 14q12 MGC15504 C14orf128 "chromosome 14 open reading frame 128|ARHGAP5 antisense RNA 1 (non-protein coding)|ARHGAP5 antisense RNA 1" Antisense RNAs 1987 2003-01-17 2011-11-29 2012-10-17 2012-10-17 84837 ENSG00000258655 OTTHUMG00000170588 uc010amk.4 BC007251 NR_027263 Q96IT6 ARHGAP5-AS1 HGNC:20279 HGNC:676 ARHGAP6 Rho GTPase activating protein 6 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 rhoGAPX-1 "Rho GTPase activating proteins|MicroRNA protein coding host genes" "721|1691" 1998-02-16 2023-03-15 395 ENSG00000047648 OTTHUMG00000021134 uc004cup.2 AF012272 NM_013427 "CCDS14141|CCDS14142|CCDS14140" O43182 9417914 MGI:1196332 RGD:2323364 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARHGAP6 300118 HGNC:676 "ENST00000337414.9|NM_013427.3" -HGNC:677 ARHGAP8 Rho GTPase activating protein 8 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "FLJ20185|BPGAP1" "Rho GTPase activating proteins|BCH domain containing " "721|1299" 1999-10-29 2023-01-20 23779 ENSG00000241484 OTTHUMG00000030234 uc003bfk.4 AF177331 NM_017701 "CCDS14060|CCDS33664|CCDS56233" P85298 10591208 MGI:1920417 RGD:1303143 609405 HGNC:677 "ENST00000356099.11|NM_181335.3" -HGNC:14130 ARHGAP9 Rho GTPase activating protein 9 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "MGC1295|10C" "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2001-02-28 2023-01-20 64333 ENSG00000123329 OTTHUMG00000150147 uc001soc.3 AB051853 NM_032496 "CCDS8941|CCDS81705|CCDS44929|CCDS44928" Q9BRR9 11396949 MGI:2143764 RGD:1305342 610576 HGNC:14130 "ENST00000393791.8|NM_032496.4" +HGNC:677 ARHGAP8 Rho GTPase activating protein 8 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "FLJ20185|BPGAP1" "Rho GTPase activating proteins|BCH domain containing " "721|1299" 1999-10-29 2023-01-20 23779 ENSG00000241484 OTTHUMG00000030234 uc003bfk.4 AF177331 NM_017701 "CCDS56233|CCDS14060|CCDS33664" P85298 10591208 MGI:1920417 RGD:1303143 609405 HGNC:677 "ENST00000356099.11|NM_181335.3" +HGNC:14130 ARHGAP9 Rho GTPase activating protein 9 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "MGC1295|10C" "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2001-02-28 2023-01-20 64333 ENSG00000123329 OTTHUMG00000150147 uc001soc.3 AB051853 NM_032496 "CCDS44928|CCDS8941|CCDS81705|CCDS44929" Q9BRR9 11396949 MGI:2143764 RGD:1305342 610576 HGNC:14130 "ENST00000393791.8|NM_032496.4" HGNC:26099 ARHGAP10 Rho GTPase activating protein 10 protein-coding gene gene with protein product Approved 4q31.23 04q31.23 "FLJ20896|FLJ41791|GRAF2" "MicroRNA protein coding host genes|AH/BAR family Rho GTPase activating proteins" "1691|1923" 2004-05-17 2023-01-20 79658 ENSG00000071205 OTTHUMG00000161460 uc003ilf.4 BC047914 NM_024605 CCDS34075 A1A4S6 "8288572|11432776|15793564" MGI:1925764 RGD:1588859 609746 HGNC:26099 "ENST00000336498.8|NM_024605.4" -HGNC:15783 ARHGAP11A Rho GTPase activating protein 11A protein-coding gene gene with protein product Approved 15q13.3 15q13.3 KIAA0013 GAP (1-12) Rho GTPase activating proteins 721 2004-10-04 2023-01-20 9824 ENSG00000198826 OTTHUMG00000129289 uc001zgy.2 D87717 NM_014783 "CCDS58349|CCDS66730|CCDS10028" Q6P4F7 11829490 MGI:2444300 RGD:1309107 610589 HGNC:15783 "ENST00000361627.8|NM_014783.6" +HGNC:15783 ARHGAP11A Rho GTPase activating protein 11A protein-coding gene gene with protein product Approved 15q13.3 15q13.3 KIAA0013 GAP (1-12) Rho GTPase activating proteins 721 2004-10-04 2023-01-20 9824 ENSG00000198826 OTTHUMG00000129289 uc001zgy.2 D87717 NM_014783 "CCDS10028|CCDS58349|CCDS66730" Q6P4F7 11829490 MGI:2444300 RGD:1309107 610589 HGNC:15783 "ENST00000361627.8|NM_014783.6" HGNC:56188 ARHGAP11A-DT ARHGAP11A divergent transcript non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 Divergent transcripts 1990 2022-01-21 2022-01-21 101928042 ENSG00000262728 NR_135833 HGNC:56310 ARHGAP11A-SCG5 ARHGAP11A-SCG5 readthrough other readthrough Approved 15q13.3 15q13.3 2022-08-25 2022-08-25 114118903 ENSG00000288864 NM_001368319 HGNC:15782 ARHGAP11B Rho GTPase activating protein 11B protein-coding gene gene with protein product Approved 15q13.2 15q13.2 B'-T GAP (1-8) FAM7B1 family with sequence similarity 7, member B1 Rho GTPase activating proteins 721 2004-10-04 2023-01-20 89839 ENSG00000285077 OTTHUMG00000175656 uc001zet.2 BC105788 NM_001039841 CCDS32185 Q3KRB8 "11829490|25721503" MGI:2444300 616310 HGNC:15782 HGNC:55586 ARHGAP11B-DT ARHGAP11B divergent transcript non-coding RNA RNA, long non-coding Approved 15q13.2 15q13.2 Divergent transcripts 1990 2021-04-26 2021-04-26 102725021 ENSG00000247728 NR_157593 -HGNC:16348 ARHGAP12 Rho GTPase activating protein 12 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "FLJ20737|FLJ10971|FLJ21785" "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2001-08-01 2023-01-20 94134 ENSG00000165322 OTTHUMG00000017911 uc001ivz.3 AY033594 NM_001270695 "CCDS59214|CCDS59215|CCDS7170|CCDS59216|CCDS73082" Q8IWW6 11854031 MGI:1922665 RGD:1310017 610577 HGNC:16348 "ENST00000344936.7|NM_018287.7" +HGNC:16348 ARHGAP12 Rho GTPase activating protein 12 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "FLJ20737|FLJ10971|FLJ21785" "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2001-08-01 2023-01-20 94134 ENSG00000165322 OTTHUMG00000017911 uc001ivz.3 AY033594 NM_001270695 "CCDS73082|CCDS59216|CCDS7170|CCDS59214|CCDS59215" Q8IWW6 11854031 MGI:1922665 RGD:1310017 610577 HGNC:16348 "ENST00000344936.7|NM_018287.7" HGNC:21030 ARHGAP15 Rho GTPase activating protein 15 protein-coding gene gene with protein product Approved 2q22.2-q22.3 02q22.2-q22.3 BM046 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2003-05-07 2023-01-20 55843 ENSG00000075884 OTTHUMG00000192163 uc002tvm.5 AY219338 NM_018460 CCDS2184 Q53QZ3 "12650940|11042152" MGI:1923367 RGD:1359304 610578 HGNC:21030 "ENST00000295095.11|NM_018460.4" HGNC:40949 ARHGAP15-AS1 ARHGAP15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q22.3 02q22.3 Antisense RNAs 1987 2019-07-19 2019-07-19 105373654 ENSG00000231758 OTTHUMG00000153724 XR_007087250 HGNC:40949 HGNC:19921 ARHGAP16P Rho GTPase activating protein 16 pseudogene pseudogene pseudogene Approved 14q21.2 14q21.2 ARHGAP15P Rho GTPase activating protein 15 pseudogene Rho GTPase activating proteins 721 2003-01-13 2003-05-07 2003-05-07 2019-07-30 319102 ENSG00000258894 OTTHUMG00000170709 NG_002492 PGOHUM00000248153 HGNC:19921 HGNC:18239 ARHGAP17 Rho GTPase activating protein 17 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "RICH1|FLJ10308|NADRIN|FLJ13219|WBP15" "N-BAR domain containing|AH/BAR family Rho GTPase activating proteins" "1289|1923" 2004-04-22 2023-01-20 55114 ENSG00000140750 OTTHUMG00000177372 uc002dnb.5 AJ306731 NM_018054 "CCDS32409|CCDS32408" Q68EM7 "10967100|11431473" MGI:1917747 RGD:628767 608293 HGNC:18239 "ENST00000289968.11|NM_001006634.3" HGNC:21035 ARHGAP18 Rho GTPase activating protein 18 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 "MacGAP|bA307O14.2" Rho GTPase activating proteins 721 2003-05-07 2023-01-20 93663 ENSG00000146376 OTTHUMG00000015547 uc003qbr.4 AB053293 NM_033515 CCDS34535 Q8N392 MGI:1921160 RGD:1305053 613351 HGNC:21035 "ENST00000368149.3|NM_033515.3" -HGNC:23724 ARHGAP19 Rho GTPase activating protein 19 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "FLJ00194|MGC14258" Rho GTPase activating proteins 721 2003-12-05 2023-01-20 84986 ENSG00000213390 OTTHUMG00000018845 uc001knb.4 AK074122 NM_032900 "CCDS73175|CCDS58092|CCDS7454" Q14CB8 MGI:1918335 RGD:1593044 611587 HGNC:23724 "ENST00000358531.9|NM_032900.6" +HGNC:23724 ARHGAP19 Rho GTPase activating protein 19 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "FLJ00194|MGC14258" Rho GTPase activating proteins 721 2003-12-05 2023-01-20 84986 ENSG00000213390 OTTHUMG00000018845 uc001knb.4 AK074122 NM_032900 "CCDS7454|CCDS73175|CCDS58092" Q14CB8 MGI:1918335 RGD:1593044 611587 HGNC:23724 "ENST00000358531.9|NM_032900.6" HGNC:48348 ARHGAP19-SLIT1 ARHGAP19-SLIT1 readthrough (NMD candidate) other readthrough Approved 10q24.1 10q24.1 2013-05-10 2013-05-10 100533184 ENSG00000269891 OTTHUMG00000184018 NR_037909 HGNC:48348 -HGNC:18357 ARHGAP20 Rho GTPase activating protein 20 protein-coding gene gene with protein product Approved 11q22.3-q23.1 11q22.3-q23.1 KIAA1391 Rho GTPase activating proteins 721 2003-12-05 2023-01-20 57569 ENSG00000137727 OTTHUMG00000166590 uc001pkz.3 AB037812 NM_020809 "CCDS58177|CCDS31673|CCDS58176|CCDS58175" Q9P2F6 14532992 MGI:2445175 RGD:1303160 609568 HGNC:18357 "ENST00000683387.1|NM_001384657.1" -HGNC:23725 ARHGAP21 Rho GTPase activating protein 21 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "KIAA1424|ARHGAP10" "Pleckstrin homology domain containing|Rho GTPase activating proteins|PDZ domain containing" "682|721|1220" 2003-12-04 2023-01-20 57584 ENSG00000107863 OTTHUMG00000017825 uc001isb.2 AF480466 NM_020824 "CCDS7144|CCDS91222" Q5T5U3 12056806 MGI:1918685 RGD:1311028 609870 HGNC:23725 "ENST00000396432.7|NM_020824.4" -HGNC:30320 ARHGAP22 Rho GTPase activating protein 22 protein-coding gene gene with protein product Approved 10q11.22-q11.23 10q11.22-q11.23 RhoGAP2 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2004-01-29 2023-01-20 58504 ENSG00000128805 OTTHUMG00000018176 uc001jgt.5 AY324801 NM_021226 "CCDS58081|CCDS58079|CCDS58080|CCDS7227" Q7Z5H3 8619474 MGI:2443418 RGD:1307237 610585 HGNC:30320 "ENST00000249601.9|NM_021226.4" +HGNC:18357 ARHGAP20 Rho GTPase activating protein 20 protein-coding gene gene with protein product Approved 11q22.3-q23.1 11q22.3-q23.1 KIAA1391 Rho GTPase activating proteins 721 2003-12-05 2023-01-20 57569 ENSG00000137727 OTTHUMG00000166590 uc001pkz.3 AB037812 NM_020809 "CCDS31673|CCDS58176|CCDS58177|CCDS58175" Q9P2F6 14532992 MGI:2445175 RGD:1303160 609568 HGNC:18357 "ENST00000683387.1|NM_001384657.1" +HGNC:23725 ARHGAP21 Rho GTPase activating protein 21 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "KIAA1424|ARHGAP10" "Pleckstrin homology domain containing|Rho GTPase activating proteins|PDZ domain containing" "682|721|1220" 2003-12-04 2023-01-20 57584 ENSG00000107863 OTTHUMG00000017825 uc001isb.2 AF480466 NM_020824 "CCDS91222|CCDS7144" Q5T5U3 12056806 MGI:1918685 RGD:1311028 609870 HGNC:23725 "ENST00000396432.7|NM_020824.4" +HGNC:30320 ARHGAP22 Rho GTPase activating protein 22 protein-coding gene gene with protein product Approved 10q11.22-q11.23 10q11.22-q11.23 RhoGAP2 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2004-01-29 2023-01-20 58504 ENSG00000128805 OTTHUMG00000018176 uc001jgt.5 AY324801 NM_021226 "CCDS58080|CCDS7227|CCDS58081|CCDS58079" Q7Z5H3 8619474 MGI:2443418 RGD:1307237 610585 HGNC:30320 "ENST00000249601.9|NM_021226.4" HGNC:42944 ARHGAP22-IT1 ARHGAP22 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 10q11.22 10q11.22 FLJ35752 ARHGAP22 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-09-07 2015-02-25 2015-02-25 100689073 ENSG00000248682 OTTHUMG00000159998 uc057tdj.1 AK093071 NR_146782 ARHGAP22-IT1 HGNC:42944 HGNC:29293 ARHGAP23 Rho GTPase activating protein 23 protein-coding gene gene with protein product Approved 17q12 17q12 KIAA1501 "Pleckstrin homology domain containing|Rho GTPase activating proteins|PDZ domain containing" "682|721|1220" 2004-04-06 2023-03-15 57636 ENSG00000275832 OTTHUMG00000188547 uc284ovh.1 AB040934 NM_001199417 CCDS56027 Q9P227 "10819331|15254754" MGI:3697726 RGD:1309742 610590 HGNC:29293 "ENST00000622683.5|NM_001199417.2" HGNC:45039 ARHGAP23P1 Rho GTPase activating protein 23 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 2013-01-20 2013-01-23 102577425 ENSG00000260781 OTTHUMG00000176364 NG_033847 PGOHUM00000259060 HGNC:45039 -HGNC:25361 ARHGAP24 Rho GTPase activating protein 24 protein-coding gene gene with protein product Approved 4q21.23-q21.3 04q21.23-q21.3 "DKFZP564B1162|FLJ33877|FilGAP" "Pleckstrin homology domain containing|Rho GTPase activating proteins|MicroRNA protein coding host genes" "682|721|1691" 2004-04-06 2023-01-20 83478 ENSG00000138639 OTTHUMG00000130427 uc003hpk.4 AK091196 NM_031305 "CCDS43246|CCDS34025|CCDS3611" Q8N264 "11230166|15254788" MGI:1922647 RGD:1306669 610586 285362 HGNC:25361 "ENST00000395184.6|NM_001025616.3" HGNC:25361 -HGNC:28951 ARHGAP25 Rho GTPase activating protein 25 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 KIAA0053 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2004-04-06 2023-01-20 9938 ENSG00000163219 OTTHUMG00000152621 uc010fdg.4 D29642 NM_014882 "CCDS54364|CCDS46312|CCDS54363|CCDS33214" P42331 7584044 MGI:2443687 RGD:1562105 610587 HGNC:28951 "ENST00000409202.8|NM_001007231.3" -HGNC:17073 ARHGAP26 Rho GTPase activating protein 26 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "GRAF|KIAA0621|OPHN1L|OPHN1L1" GTPase regulator associated with the focal adhesion kinase pp125 AH/BAR family Rho GTPase activating proteins 1923 2004-05-19 2023-01-20 23092 ENSG00000145819 OTTHUMG00000059705 uc011dbj.3 AB014521 NM_015071 "CCDS87332|CCDS4277|CCDS47297" Q9UNA1 "9858476|8649427" MGI:1918552 RGD:1310923 LRG_1127|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1127.xml ARHGAP26 605370 HGNC:17073 "ENST00000645722.2|NM_001135608.3" HGNC:17073 +HGNC:25361 ARHGAP24 Rho GTPase activating protein 24 protein-coding gene gene with protein product Approved 4q21.23-q21.3 04q21.23-q21.3 "DKFZP564B1162|FLJ33877|FilGAP" "Pleckstrin homology domain containing|Rho GTPase activating proteins|MicroRNA protein coding host genes" "682|721|1691" 2004-04-06 2023-01-20 83478 ENSG00000138639 OTTHUMG00000130427 uc003hpk.4 AK091196 NM_031305 "CCDS34025|CCDS3611|CCDS43246" Q8N264 "11230166|15254788" MGI:1922647 RGD:1306669 610586 285362 HGNC:25361 "ENST00000395184.6|NM_001025616.3" HGNC:25361 +HGNC:28951 ARHGAP25 Rho GTPase activating protein 25 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 KIAA0053 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2004-04-06 2023-01-20 9938 ENSG00000163219 OTTHUMG00000152621 uc010fdg.4 D29642 NM_014882 "CCDS46312|CCDS54364|CCDS54363|CCDS33214" P42331 7584044 MGI:2443687 RGD:1562105 610587 HGNC:28951 "ENST00000409202.8|NM_001007231.3" +HGNC:17073 ARHGAP26 Rho GTPase activating protein 26 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "GRAF|KIAA0621|OPHN1L|OPHN1L1" GTPase regulator associated with the focal adhesion kinase pp125 AH/BAR family Rho GTPase activating proteins 1923 2004-05-19 2023-01-20 23092 ENSG00000145819 OTTHUMG00000059705 uc011dbj.3 AB014521 NM_015071 "CCDS4277|CCDS47297|CCDS87332" Q9UNA1 "9858476|8649427" MGI:1918552 RGD:1310923 LRG_1127|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1127.xml ARHGAP26 605370 HGNC:17073 "ENST00000645722.2|NM_001135608.3" HGNC:17073 HGNC:40792 ARHGAP26-AS1 ARHGAP26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 ARHGAP26 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100874239 ENSG00000226272 OTTHUMG00000059702 uc003lmv.4 NR_046680 ARHGAP26-AS1 HGNC:40792 HGNC:41429 ARHGAP26-IT1 ARHGAP26 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 ARHGAP26 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874372 ENSG00000230789 OTTHUMG00000067192 uc063ifw.1 NR_046816 ARHGAP26-IT1 HGNC:41429 -HGNC:31813 ARHGAP27 Rho GTPase activating protein 27 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CAMGAP1|FLJ43547|SH3P20" SH3D20 SH3 domain containing 20 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2004-09-02 2023-01-20 201176 ENSG00000159314 OTTHUMG00000166982 uc032fka.1 AK125535 NM_199282 "CCDS92340|CCDS74082|CCDS32670|CCDS11498|CCDS92342|CCDS92343|CCDS92341" Q6ZUM4 15147912 MGI:1916903 RGD:735202 610591 HGNC:31813 "ENST00000685559.1|NM_001282290.2" +HGNC:31813 ARHGAP27 Rho GTPase activating protein 27 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CAMGAP1|FLJ43547|SH3P20" SH3D20 SH3 domain containing 20 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2004-09-02 2023-01-20 201176 ENSG00000159314 OTTHUMG00000166982 uc032fka.1 AK125535 NM_199282 "CCDS92342|CCDS92341|CCDS92340|CCDS32670|CCDS74082|CCDS92343|CCDS11498" Q6ZUM4 15147912 MGI:1916903 RGD:735202 610591 HGNC:31813 "ENST00000685559.1|NM_001282290.2" HGNC:28630 ARHGAP27P1 Rho GTPase activating protein 27 pseudogene 1 pseudogene pseudogene Approved 17q24.1 17q24.1 loc146880 2016-12-14 2017-10-30 146880 OTTHUMG00000179291 NR_027487 27836757 HGNC:28630 HGNC:52873 ARHGAP27P1-BPTFP1-KPNA2P3 ARHGAP27P1-BPTFP1-KPNA2P3 readthrough, transcribed pseudogene other readthrough Approved 17q24.1 17q24.1 2016-12-14 2017-07-14 109286553 ENSG00000215769 NR_026899 HGNC:52873 HGNC:53771 ARHGAP27P2 Rho GTPase activating protein 27 pseudogene 2 pseudogene pseudogene Approved 17q24.2 17q24.2 2017-10-30 2017-10-30 440461 ENSG00000267472 OTTHUMG00000180174 NR_027283 PGOHUM00000294539 HGNC:53771 -HGNC:25509 ARHGAP28 Rho GTPase activating protein 28 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "KIAA1314|FLJ10312" Rho GTPase activating proteins 721 2005-01-18 2023-03-15 79822 ENSG00000088756 OTTHUMG00000167698 uc002kne.4 BC033668 NM_001010000 "CCDS32785|CCDS92430|CCDS92429" Q9P2N2 10718198 MGI:2147003 RGD:1559882 610592 HGNC:25509 "ENST00000383472.9|NM_001366230.1" +HGNC:25509 ARHGAP28 Rho GTPase activating protein 28 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "KIAA1314|FLJ10312" Rho GTPase activating proteins 721 2005-01-18 2023-03-15 79822 ENSG00000088756 OTTHUMG00000167698 uc002kne.4 BC033668 NM_001010000 "CCDS92429|CCDS32785|CCDS92430" Q9P2N2 10718198 MGI:2147003 RGD:1559882 610592 HGNC:25509 "ENST00000383472.9|NM_001366230.1" HGNC:55320 ARHGAP28-AS1 ARHGAP28 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Antisense RNAs 1987 2020-10-21 2020-10-21 101927168 ENSG00000266441 NR_134645 HGNC:30207 ARHGAP29 Rho GTPase activating protein 29 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 PARG1 AH/BAR family Rho GTPase activating proteins 1923 2005-04-28 2023-01-20 9411 ENSG00000137962 OTTHUMG00000010643 uc001dqj.5 NM_004815 CCDS748 Q52LW3 9305890 MGI:2443818 RGD:1306185 610496 HGNC:30207 "ENST00000260526.11|NM_004815.4" HGNC:30207 HGNC:54311 ARHGAP29-AS1 ARHGAP29 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.1-p21.3 01p22.1-p21.3 Antisense RNAs 1987 2019-05-03 2019-05-03 107985092 ENSG00000226835 XR_001738151 HGNC:54311 HGNC:27414 ARHGAP30 Rho GTPase activating protein 30 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 FLJ00267 Rho GTPase activating proteins 721 2005-06-16 2023-01-20 257106 ENSG00000186517 OTTHUMG00000031477 uc001fxl.4 AL832852 NM_181720 "CCDS1215|CCDS30918|CCDS72958" Q7Z6I6 MGI:2684948 RGD:1561419 614264 HGNC:27414 "ENST00000368013.8|NM_001025598.2" HGNC:29216 ARHGAP31 Rho GTPase activating protein 31 protein-coding gene gene with protein product Approved 3q13.32-q13.33 03q13.32-q13.33 CDGAP Rho GTPase activating proteins 721 2010-02-19 2023-01-20 57514 ENSG00000031081 OTTHUMG00000159362 uc003ecj.5 NM_020754 CCDS43135 Q2M1Z3 "9786927|12819203|16519628" MGI:1333857 RGD:1306093 610911 267088 HGNC:29216 "ENST00000264245.9|NM_020754.4" HGNC:29216 HGNC:41235 ARHGAP31-AS1 ARHGAP31 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.33 03q13.33 ARHGAP31 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874246 ENSG00000241155 OTTHUMG00000159360 uc062mtq.1 NR_046748 ARHGAP31-AS1 HGNC:41235 -HGNC:17399 ARHGAP32 Rho GTPase activating protein 32 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "GRIT|KIAA0712|MGC1892|RICS|GC-GAP" Rho GTPase activating proteins 721 2010-02-19 2023-01-20 9743 ENSG00000134909 OTTHUMG00000165774 uc009zcp.3 AB018255 NM_014715 "CCDS44769|CCDS91623|CCDS31718" A7KAX9 "12446789|12819203|17663722" MGI:2450166 RGD:1305267 608541 HGNC:17399 "ENST00000682385.1|NM_001378024.1" -HGNC:23085 ARHGAP33 Rho GTPase activating protein 33 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ39019|TCGAP" SNX26 sorting nexin 26 Rho GTPase activating proteins 721 2003-09-05 2010-02-19 2010-02-19 2023-01-20 115703 ENSG00000004777 OTTHUMG00000182071 uc002obs.3 AY044864 NM_052948 "CCDS92599|CCDS54254|CCDS12477" O14559 "12297274|12461558" MGI:2673998 RGD:2318374 614902 HGNC:23085 "ENST00000007510.9|NM_001366178.1" HGNC:23085 +HGNC:17399 ARHGAP32 Rho GTPase activating protein 32 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "GRIT|KIAA0712|MGC1892|RICS|GC-GAP" Rho GTPase activating proteins 721 2010-02-19 2023-01-20 9743 ENSG00000134909 OTTHUMG00000165774 uc009zcp.3 AB018255 NM_014715 "CCDS91623|CCDS31718|CCDS44769" A7KAX9 "12446789|12819203|17663722" MGI:2450166 RGD:1305267 608541 HGNC:17399 "ENST00000682385.1|NM_001378024.1" +HGNC:23085 ARHGAP33 Rho GTPase activating protein 33 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ39019|TCGAP" SNX26 sorting nexin 26 Rho GTPase activating proteins 721 2003-09-05 2010-02-19 2010-02-19 2023-01-20 115703 ENSG00000004777 OTTHUMG00000182071 uc002obs.3 AY044864 NM_052948 "CCDS92599|CCDS12477|CCDS54254" O14559 "12297274|12461558" MGI:2673998 RGD:2318374 614902 HGNC:23085 "ENST00000007510.9|NM_001366178.1" HGNC:23085 HGNC:4591 ARHGAP35 Rho GTPase activating protein 35 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "GRF-1|p190ARhoGAP|P190A|KIAA1722|p190RhoGAP" GRLF1 glucocorticoid receptor DNA binding factor 1 Rho GTPase activating proteins 721 1993-12-15 2011-06-07 2011-06-07 2023-01-20 2909 ENSG00000160007 OTTHUMG00000183438 uc010ekv.4 M73077 NM_004491 CCDS46127 Q9NRY4 "1894621|20675588" MGI:1929494 RGD:1308738 ARHGAP35 605277 HGNC:4591 "ENST00000672722.1|NM_004491.5" -HGNC:26388 ARHGAP36 Rho GTPase activating protein 36 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 FLJ30058 Rho GTPase activating proteins 721 2010-03-01 2023-01-20 158763 ENSG00000147256 OTTHUMG00000022402 uc004evz.5 NM_144967 "CCDS83489|CCDS14628|CCDS65320" Q6ZRI8 MGI:1922654 RGD:1565967 300937 HGNC:26388 "ENST00000276211.10|NM_144967.4" -HGNC:29351 ARHGAP39 Rho GTPase activating protein 39 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KIAA1688|Vilse|CrGAP" "RhoGAP93B homolog (Drosophila)|crossGAP homolog (Drosophila)" Rho GTPase activating proteins 721 2010-04-14 2023-01-20 80728 ENSG00000147799 OTTHUMG00000165182 uc064rpe.1 NM_001308207 "CCDS78374|CCDS34971" Q9C0H5 15755809 MGI:107858 RGD:1593158 615880 HGNC:29351 "ENST00000377307.7|NM_025251.3" +HGNC:26388 ARHGAP36 Rho GTPase activating protein 36 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 FLJ30058 Rho GTPase activating proteins 721 2010-03-01 2023-01-20 158763 ENSG00000147256 OTTHUMG00000022402 uc004evz.5 NM_144967 "CCDS14628|CCDS83489|CCDS65320" Q6ZRI8 MGI:1922654 RGD:1565967 300937 HGNC:26388 "ENST00000276211.10|NM_144967.4" +HGNC:29351 ARHGAP39 Rho GTPase activating protein 39 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KIAA1688|Vilse|CrGAP" "RhoGAP93B homolog (Drosophila)|crossGAP homolog (Drosophila)" Rho GTPase activating proteins 721 2010-04-14 2023-01-20 80728 ENSG00000147799 OTTHUMG00000165182 uc064rpe.1 NM_001308207 "CCDS34971|CCDS78374" Q9C0H5 15755809 MGI:107858 RGD:1593158 615880 HGNC:29351 "ENST00000377307.7|NM_025251.3" HGNC:16226 ARHGAP40 Rho GTPase activating protein 40 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ1100H13.4 C20orf95 chromosome 20 open reading frame 95 Rho GTPase activating proteins 721 2001-07-17 2010-04-14 2010-04-14 2016-10-18 343578 ENSG00000124143 OTTHUMG00000032453 uc061wyy.1 AL035419 NM_001164431 Q5TG30 MGI:3649852 RGD:1562428 HGNC:16226 HGNC:26545 ARHGAP42 Rho GTPase activating protein 42 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "FLJ32810|GRAF3|AD031" TMEM133 transmembrane protein 133 AH/BAR family Rho GTPase activating proteins 1923 2010-04-28 2023-03-15 143872 ENSG00000165895 OTTHUMG00000167530 uc001pge.2 NM_152432 A6NI28 18954304 MGI:1918794 RGD:1564081 615936 HGNC:26545 "ENST00000298815.13|NM_152432.4" HGNC:54801 ARHGAP42-AS1 ARHGAP42 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q22.1 11q22.1 AK124326 Antisense RNAs 1987 2020-01-10 2020-01-21 100128386 ENSG00000248027 NR_133571 31886719 @@ -1475,44 +1475,44 @@ HGNC:43939 ARHGAP42P2 ARHGAP42 pseudogene 2 pseudogene pseudogene Approved 2q21. HGNC:19327 ARHGAP42P3 ARHGAP42 pseudogene 3 pseudogene pseudogene Approved 22q11.1 22q11.1 OPHN1P1 "oligophrenin 1 pseudogene 1|Rho GTPase activating protein 42 pseudogene 3" 2002-10-03 2012-05-11 2020-01-10 2020-01-10 266698 ENSG00000235759 OTTHUMG00000140358 NG_002375 PGOHUM00000246371 HGNC:19327 HGNC:43941 ARHGAP42P4 ARHGAP42 pseudogene 4 pseudogene pseudogene Approved 14q11.2 14q11.2 Rho GTPase activating protein 42 pseudogene 4 2012-05-11 2020-01-10 2020-01-10 254398 ENSG00000258080 OTTHUMG00000170557 NG_028869 PGOHUM00000248032 HGNC:43941 HGNC:43942 ARHGAP42P5 ARHGAP42 pseudogene 5 pseudogene pseudogene Approved 14q11.2 14q11.2 Rho GTPase activating protein 42 pseudogene 5 2012-05-11 2020-01-10 2020-01-10 100128514 ENSG00000258233 OTTHUMG00000170299 NG_028186 PGOHUM00000247695 HGNC:43942 -HGNC:29096 ARHGAP44 Rho GTPase activating protein 44 protein-coding gene gene with protein product Approved 17p12 17p12 "KIAA0672|RICH-2|RICH2" "N-BAR domain containing|AH/BAR family Rho GTPase activating proteins" "1289|1923" 2010-08-19 2023-01-20 9912 ENSG00000006740 OTTHUMG00000058765 uc002gnr.5 NM_014859 "CCDS45616|CCDS82076|CCDS82077" Q17R89 19273615 MGI:2144423 RGD:1305664 617716 HGNC:29096 "ENST00000379672.10|NM_014859.6" +HGNC:29096 ARHGAP44 Rho GTPase activating protein 44 protein-coding gene gene with protein product Approved 17p12 17p12 "KIAA0672|RICH-2|RICH2" "N-BAR domain containing|AH/BAR family Rho GTPase activating proteins" "1289|1923" 2010-08-19 2023-01-20 9912 ENSG00000006740 OTTHUMG00000058765 uc002gnr.5 NM_014859 "CCDS82076|CCDS45616|CCDS82077" Q17R89 19273615 MGI:2144423 RGD:1305664 617716 HGNC:29096 "ENST00000379672.10|NM_014859.6" HGNC:55326 ARHGAP44-AS1 ARHGAP44 and MYOCD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p12 17p12 Antisense RNAs 1987 2020-10-21 2020-10-21 100128006 ENSG00000265489 NR_104607 -HGNC:17102 ARHGAP45 Rho GTPase activating protein 45 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA0223|HA-1" HMHA1 histocompatibility (minor) HA-1 "Minor histocompatibility antigens|F-BAR domain containing |AH/BAR family Rho GTPase activating proteins" "870|1288|1923" 2005-12-06 2016-06-06 2016-06-06 2023-01-20 23526 ENSG00000180448 uc002lqz.4 D86976 NM_001258328 "CCDS82263|CCDS74243|CCDS58637|CCDS32863|CCDS74242" Q92619 "9820596|9039502" MGI:1917969 RGD:1308662 601155 HGNC:17102 "ENST00000313093.7|NM_012292.5" -HGNC:678 ARHGDIA Rho GDP dissociation inhibitor alpha protein-coding gene gene with protein product Approved 17q25.3 17q25.3 RHOGDI GDIA1 Rho GDP dissociation inhibitor (GDI) alpha 1996-04-30 2016-04-01 2023-01-20 396 ENSG00000141522 OTTHUMG00000178352 uc002kbq.3 BC028333 NM_004309 "CCDS58609|CCDS77133|CCDS11788" P52565 9186513 MGI:2178103 RGD:1359547 601925 356106 HGNC:678 "ENST00000269321.12|NM_004309.6" HGNC:678 +HGNC:17102 ARHGAP45 Rho GTPase activating protein 45 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA0223|HA-1" HMHA1 histocompatibility (minor) HA-1 "Minor histocompatibility antigens|F-BAR domain containing |AH/BAR family Rho GTPase activating proteins" "870|1288|1923" 2005-12-06 2016-06-06 2016-06-06 2023-01-20 23526 ENSG00000180448 uc002lqz.4 D86976 NM_001258328 "CCDS82263|CCDS32863|CCDS58637|CCDS74243|CCDS74242" Q92619 "9820596|9039502" MGI:1917969 RGD:1308662 601155 HGNC:17102 "ENST00000313093.7|NM_012292.5" +HGNC:678 ARHGDIA Rho GDP dissociation inhibitor alpha protein-coding gene gene with protein product Approved 17q25.3 17q25.3 RHOGDI GDIA1 Rho GDP dissociation inhibitor (GDI) alpha 1996-04-30 2016-04-01 2023-01-20 396 ENSG00000141522 OTTHUMG00000178352 uc002kbq.3 BC028333 NM_004309 "CCDS77133|CCDS58609|CCDS11788" P52565 9186513 MGI:2178103 RGD:1359547 601925 356106 HGNC:678 "ENST00000269321.12|NM_004309.6" HGNC:678 HGNC:679 ARHGDIB Rho GDP dissociation inhibitor beta protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "Ly-GDI|RhoGDI2" "RAP1GN1|GDIA2|GDID4" Rho GDP dissociation inhibitor (GDI) beta "Receptor ligands|Minor histocompatibility antigens" "542|870" 1994-08-29 2016-04-01 2023-01-20 397 ENSG00000111348 OTTHUMG00000168742 uc001rcq.2 L07916 NM_001175 CCDS8671 P52566 "8434008|8356058" MGI:101940 RGD:1305383 602843 ligandId:5174 HGNC:679 "ENST00000228945.9|NM_001175.7" HGNC:680 ARHGDIG Rho GDP dissociation inhibitor gamma protein-coding gene gene with protein product Approved 16p13.3 16p13.3 RHOGDI-3 RhoGDI gamma Rho GDP dissociation inhibitor (GDI) gamma 1997-07-11 2016-04-01 2023-01-20 398 ENSG00000242173 OTTHUMG00000064892 uc002cgm.2 U82532 NM_001176 CCDS10404 Q99819 "9113980|11967128" MGI:108430 RGD:1310739 602844 HGNC:680 "ENST00000219409.8|NM_001176.4" -HGNC:681 ARHGEF1 Rho guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "P115-RHOGEF|SUB1.5|LBCL2" Rho guanine nucleotide exchange factor (GEF) 1 Dbl family Rho GEFs 722 2000-03-10 2015-11-09 2023-01-20 9138 ENSG00000076928 OTTHUMG00000182679 uc002osa.4 U64105 NM_199002 "CCDS12590|CCDS12592|CCDS12591|CCDS92626" Q92888 "8810315|9135076" MGI:1353510 RGD:620951 601855 HGNC:681 "ENST00000354532.8|NM_004706.4" HGNC:681 -HGNC:682 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 1q22 01q22 "LFP40|GEF-H1|KIAA0651|P40|Lfc|GEFH1" "rho/rac guanine nucleotide exchange factor (GEF) 2|Rho/Rac guanine nucleotide exchange factor (GEF) 2" "Pleckstrin homology domain containing|Dbl family Rho GEFs|MicroRNA protein coding host genes" "682|722|1691" 2000-06-09 2015-11-09 2023-01-20 9181 ENSG00000116584 OTTHUMG00000017464 uc001fmr.3 AB014551 NM_004723 "CCDS53375|CCDS53376|CCDS1125" Q92974 "9857026|9734811" MGI:103264 RGD:1304659 607560 HGNC:682 "ENST00000361247.9|NM_001162383.2" +HGNC:681 ARHGEF1 Rho guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "P115-RHOGEF|SUB1.5|LBCL2" Rho guanine nucleotide exchange factor (GEF) 1 Dbl family Rho GEFs 722 2000-03-10 2015-11-09 2023-01-20 9138 ENSG00000076928 OTTHUMG00000182679 uc002osa.4 U64105 NM_199002 "CCDS92626|CCDS12591|CCDS12592|CCDS12590" Q92888 "8810315|9135076" MGI:1353510 RGD:620951 601855 HGNC:681 "ENST00000354532.8|NM_004706.4" HGNC:681 +HGNC:682 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 1q22 01q22 "LFP40|GEF-H1|KIAA0651|P40|Lfc|GEFH1" "rho/rac guanine nucleotide exchange factor (GEF) 2|Rho/Rac guanine nucleotide exchange factor (GEF) 2" "Pleckstrin homology domain containing|Dbl family Rho GEFs|MicroRNA protein coding host genes" "682|722|1691" 2000-06-09 2015-11-09 2023-01-20 9181 ENSG00000116584 OTTHUMG00000017464 uc001fmr.3 AB014551 NM_004723 "CCDS1125|CCDS53375|CCDS53376" Q92974 "9857026|9734811" MGI:103264 RGD:1304659 607560 HGNC:682 "ENST00000361247.9|NM_001162383.2" HGNC:40082 ARHGEF2-AS1 ARHGEF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q22 01q22 Antisense RNAs 1987 2019-07-19 2019-07-19 107985210 ENSG00000224276 OTTHUMG00000017459 XR_001738248 HGNC:40082 HGNC:55175 ARHGEF2-AS2 ARHGEF2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q22 01q22 Antisense RNAs 1987 2020-08-06 2020-08-06 107985209 ENSG00000273002 NR_183459 -HGNC:683 ARHGEF3 Rho guanine nucleotide exchange factor 3 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "STA3|XPLN|GEF3|DKFZP434F2429" "exchange factor found in platelets and leukemic and neuronal tissues, XPLN|RhoGEF protein" Rho guanine nucleotide exchange factor (GEF) 3 Dbl family Rho GEFs 722 2000-04-11 2015-11-09 2023-01-20 50650 ENSG00000163947 OTTHUMG00000158857 uc003dig.2 AB209661 NM_019555 "CCDS46854|CCDS2878|CCDS74948|CCDS46855|CCDS93293" Q9NR81 10873612 MGI:1918954 RGD:1310672 612115 HGNC:683 "ENST00000296315.8|NM_019555.3" +HGNC:683 ARHGEF3 Rho guanine nucleotide exchange factor 3 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "STA3|XPLN|GEF3|DKFZP434F2429" "exchange factor found in platelets and leukemic and neuronal tissues, XPLN|RhoGEF protein" Rho guanine nucleotide exchange factor (GEF) 3 Dbl family Rho GEFs 722 2000-04-11 2015-11-09 2023-01-20 50650 ENSG00000163947 OTTHUMG00000158857 uc003dig.2 AB209661 NM_019555 "CCDS46854|CCDS46855|CCDS74948|CCDS2878|CCDS93293" Q9NR81 10873612 MGI:1918954 RGD:1310672 612115 HGNC:683 "ENST00000296315.8|NM_019555.3" HGNC:40083 ARHGEF3-AS1 ARHGEF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 ARHGEF3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874200 ENSG00000240198 OTTHUMG00000158863 uc031sae.2 NR_046572 ARHGEF3-AS1 HGNC:40083 -HGNC:684 ARHGEF4 Rho guanine nucleotide exchange factor 4 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "STM6|KIAA1112|ASEF|ASEF1" "APC-stimulated guanine nucleotide exchange factor|APC-stimulated guanine nucleotide exchange factor 1" Rho guanine nucleotide exchange factor (GEF) 4 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2000-04-11 2015-11-09 2023-03-15 50649 ENSG00000136002 OTTHUMG00000191895 uc002tsa.2 AL137289 NM_001367493 "CCDS2165|CCDS92866" Q9NR80 10873612 MGI:2442507 RGD:1586179 605216 HGNC:684 "ENST00000409359.7|NM_001367493.1" -HGNC:55716 ARHGEF4-AS1 ARHGEF4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 Antisense RNAs 1987 2021-07-12 2021-07-12 121853076 ENSG00000233221 +HGNC:684 ARHGEF4 Rho guanine nucleotide exchange factor 4 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "STM6|KIAA1112|ASEF|ASEF1" "APC-stimulated guanine nucleotide exchange factor|APC-stimulated guanine nucleotide exchange factor 1" Rho guanine nucleotide exchange factor (GEF) 4 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2000-04-11 2015-11-09 2023-03-15 50649 ENSG00000136002 OTTHUMG00000191895 uc002tsa.2 AL137289 NM_001367493 "CCDS92866|CCDS2165" Q9NR80 10873612 MGI:2442507 RGD:1586179 605216 HGNC:684 "ENST00000409359.7|NM_001367493.1" +HGNC:55716 ARHGEF4-AS1 ARHGEF4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 Antisense RNAs 1987 2021-07-12 2021-07-12 121853076 ENSG00000233221 NR_186036 HGNC:13209 ARHGEF5 Rho guanine nucleotide exchange factor 5 protein-coding gene gene with protein product Approved 7q35 07q35 "TIM|TIM1|GEF5|P60" "transforming immortalized mammary oncogene|guanine nucleotide regulatory protein TIM|ephexin3" Rho guanine nucleotide exchange factor (GEF) 5 Dbl family Rho GEFs 722 2001-02-15 2015-11-09 2023-01-20 7984 ENSG00000050327 OTTHUMG00000158004 uc003wel.4 U02082 NM_005435 CCDS34771 Q12774 "8134109|7656213" MGI:1858952 RGD:620718 600888 HGNC:13209 "ENST00000056217.10|NM_005435.4" HGNC:685 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "alphaPIX|Cool-2|KIAA0006|alpha-PIX|Cool2|αPix" "Rac/Cdc42 guanine exchange factor (GEF) 6|PAK-interacting exchange factor, alpha|rho guanine nucleotide exchange factor 6" MRX46 "mental retardation, X-linked 46|Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2000-07-27 2015-11-09 2023-01-20 9459 ENSG00000129675 OTTHUMG00000022518 uc004fab.5 D13631 NM_004840 "CCDS14660|CCDS78509" Q15052 "7584048|9659915" MGI:1920591 RGD:1359674 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARHGEF6 300267 168322 HGNC:685 "ENST00000250617.7|NM_004840.3" HGNC:685 -HGNC:15607 ARHGEF7 Rho guanine nucleotide exchange factor 7 protein-coding gene gene with protein product Approved 13q34 13q34 "KIAA0142|PIXB|DKFZp761K1021|Nbla10314|DKFZp686C12170|BETA-PIX|COOL1|P85SPR|P85|P85COOL1|P50BP|PAK3|P50" "SH3 domain-containing proline-rich protein|PAK-interacting exchange factor beta" Rho guanine nucleotide exchange factor (GEF) 7 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-11-21 2015-11-09 2023-01-20 8874 ENSG00000102606 OTTHUMG00000017357 uc001vrr.3 D63476 NM_001113511 "CCDS81781|CCDS9521|CCDS91837|CCDS86360|CCDS32009|CCDS45068|CCDS45069|CCDS86361|CCDS86362" Q14155 "9207241|9726964" MGI:1860493 RGD:620624 605477 HGNC:15607 "ENST00000646102.2|NM_001354046.2" +HGNC:15607 ARHGEF7 Rho guanine nucleotide exchange factor 7 protein-coding gene gene with protein product Approved 13q34 13q34 "KIAA0142|PIXB|DKFZp761K1021|Nbla10314|DKFZp686C12170|BETA-PIX|COOL1|P85SPR|P85|P85COOL1|P50BP|PAK3|P50" "SH3 domain-containing proline-rich protein|PAK-interacting exchange factor beta" Rho guanine nucleotide exchange factor (GEF) 7 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-11-21 2015-11-09 2023-01-20 8874 ENSG00000102606 OTTHUMG00000017357 uc001vrr.3 D63476 NM_001113511 "CCDS45069|CCDS86361|CCDS45068|CCDS9521|CCDS86360|CCDS81781|CCDS86362|CCDS32009|CCDS91837" Q14155 "9207241|9726964" MGI:1860493 RGD:620624 605477 HGNC:15607 "ENST00000646102.2|NM_001354046.2" HGNC:39816 ARHGEF7-AS1 ARHGEF7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 ARHGEF7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2014-11-19 100874226 ENSG00000227352 OTTHUMG00000017355 uc058yie.1 NR_046516 ARHGEF7-AS1 HGNC:39816 HGNC:40717 ARHGEF7-AS2 ARHGEF7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q34 13q34 ARHGEF7 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2021-06-30 100874238 ENSG00000235875 OTTHUMG00000017353 uc058yhz.1 NR_046667 ARHGEF7-AS2 HGNC:40717 HGNC:41408 ARHGEF7-IT1 ARHGEF7 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 ARHGEF7 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-04 2015-02-25 2015-02-25 100874371 ENSG00000233644 OTTHUMG00000017354 uc058yid.1 ARHGEF7-IT1 -HGNC:14561 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 protein-coding gene gene with protein product Approved Xq11.1 Xq11.1 "KIAA0424|PEM-2" collybistin Cdc42 guanine nucleotide exchange factor (GEF) 9 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-02-06 2015-11-09 2023-01-20 23229 ENSG00000131089 OTTHUMG00000021700 uc064zpi.1 AB007884 NM_001173479 "CCDS55429|CCDS94618|CCDS83477|CCDS87753|CCDS94619|CCDS35315|CCDS55430" O43307 "10559246|9455477" MGI:2442233 RGD:620719 300429 166055 HGNC:14561 "ENST00000671741.2|NM_001353921.2" HGNC:14561 +HGNC:14561 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 protein-coding gene gene with protein product Approved Xq11.1 Xq11.1 "KIAA0424|PEM-2" collybistin Cdc42 guanine nucleotide exchange factor (GEF) 9 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-02-06 2015-11-09 2023-01-20 23229 ENSG00000131089 OTTHUMG00000021700 uc064zpi.1 AB007884 NM_001173479 "CCDS83477|CCDS87753|CCDS55429|CCDS55430|CCDS94619|CCDS94618|CCDS35315" O43307 "10559246|9455477" MGI:2442233 RGD:620719 300429 166055 HGNC:14561 "ENST00000671741.2|NM_001353921.2" HGNC:14561 HGNC:41401 ARHGEF9-IT1 ARHGEF9 intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xq11.1 Xq11.1 ARHGEF9 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874355 ENSG00000231729 OTTHUMG00000021698 uc033egi.1 NR_138419 ARHGEF9-IT1 HGNC:41401 -HGNC:14103 ARHGEF10 Rho guanine nucleotide exchange factor 10 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 "KIAA0294|Gef10" Rho guanine nucleotide exchange factor (GEF) 10 Dbl family Rho GEFs 722 2000-12-01 2015-11-09 2023-01-20 9639 ENSG00000104728 OTTHUMG00000163626 uc003wpr.4 AF009205 NM_001308152 "CCDS78296|CCDS78297|CCDS34794" O15013 "9205841|16896804" MGI:2444453 RGD:1565043 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_234|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_234.xml" 608136 320561 HGNC:14103 "ENST00000349830.8|NM_014629.4" HGNC:14103 +HGNC:14103 ARHGEF10 Rho guanine nucleotide exchange factor 10 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 "KIAA0294|Gef10" Rho guanine nucleotide exchange factor (GEF) 10 Dbl family Rho GEFs 722 2000-12-01 2015-11-09 2023-01-20 9639 ENSG00000104728 OTTHUMG00000163626 uc003wpr.4 AF009205 NM_001308152 "CCDS78296|CCDS34794|CCDS78297" O15013 "9205841|16896804" MGI:2444453 RGD:1565043 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_234|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_234.xml" 608136 320561 HGNC:14103 "ENST00000349830.8|NM_014629.4" HGNC:14103 HGNC:25540 ARHGEF10L Rho guanine nucleotide exchange factor 10 like protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "FLJ10521|KIAA1626" GrinchGEF Rho guanine nucleotide exchange factor (GEF) 10-like Dbl family Rho GEFs 722 2005-06-23 2015-11-09 2023-01-20 55160 ENSG00000074964 OTTHUMG00000002514 uc001ban.4 AB046846 NM_018125 "CCDS30617|CCDS182" Q9HCE6 "10997877|16112081" MGI:1920004 RGD:1585585 612494 HGNC:25540 "ENST00000361221.8|NM_018125.4" HGNC:14580 ARHGEF11 Rho guanine nucleotide exchange factor 11 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "KIAA0380|GTRAP48|PDZ-RHOGEF" Rho guanine nucleotide exchange factor (GEF) 11 "Dbl family Rho GEFs|PDZ domain containing|MicroRNA protein coding host genes" "722|1220|1691" 2001-02-08 2015-11-09 2023-01-20 9826 ENSG00000132694 OTTHUMG00000041292 uc001fqn.3 AB002378 NM_198236 "CCDS1163|CCDS1162" O15085 "10526156|9205841" MGI:2441869 RGD:619705 605708 HGNC:14580 "ENST00000368194.8|NM_198236.3" -HGNC:14193 ARHGEF12 Rho guanine nucleotide exchange factor 12 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "KIAA0382|LARG" Rho guanine nucleotide exchange factor (GEF) 12 "Dbl family Rho GEFs|PDZ domain containing" "722|1220" 2000-12-07 2015-11-09 2023-01-20 23365 ENSG00000196914 OTTHUMG00000166143 uc001pxl.3 AF180681 NM_015313 "CCDS55794|CCDS41727|CCDS76487" Q9NZN5 "10681437|9205841" MGI:1916882 RGD:1305111 ARHGEF12 604763 HGNC:14193 "ENST00000397843.7|NM_015313.3" +HGNC:14193 ARHGEF12 Rho guanine nucleotide exchange factor 12 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "KIAA0382|LARG" Rho guanine nucleotide exchange factor (GEF) 12 "Dbl family Rho GEFs|PDZ domain containing" "722|1220" 2000-12-07 2015-11-09 2023-01-20 23365 ENSG00000196914 OTTHUMG00000166143 uc001pxl.3 AF180681 NM_015313 "CCDS55794|CCDS76487|CCDS41727" Q9NZN5 "10681437|9205841" MGI:1916882 RGD:1305111 ARHGEF12 604763 HGNC:14193 "ENST00000397843.7|NM_015313.3" HGNC:15590 ARHGEF15 Rho guanine nucleotide exchange factor 15 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "KIAA0915|Vsm-RhoGEF|ARGEF15|FLJ13791|MGC44868" "Rho guanine exchange factor (GEF) 15|ephexin5" Rho guanine nucleotide exchange factor (GEF) 15 Dbl family Rho GEFs 722 2001-04-26 2015-11-09 2023-01-20 22899 ENSG00000198844 OTTHUMG00000108187 uc002glc.4 AB020722 NM_173728 CCDS11139 O94989 10048485 MGI:3045246 RGD:1306961 608504 469960 HGNC:15590 "ENST00000361926.8|NM_173728.4" HGNC:15590 HGNC:15515 ARHGEF16 Rho guanine nucleotide exchange factor 16 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "NBR|GEF16" "putative neuroblastoma protein|ephexin4" Rho guanine nucleotide exchange factor (GEF) 16 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-04-06 2015-11-09 2023-01-20 27237 ENSG00000130762 OTTHUMG00000000625 uc001akg.5 D89016 NM_014448 CCDS46 Q5VV41 MGI:2446219 RGD:1588981 618871 HGNC:15515 "ENST00000378378.9|NM_014448.4" HGNC:21726 ARHGEF17 Rho guanine nucleotide exchange factor 17 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "TEM4|KIAA0337|p164-RhoGEF" "Rho-specific guanine-nucleotide exchange factor 164 kDa|tumor endothelial marker 4" Rho guanine nucleotide exchange factor (GEF) 17 Dbl family Rho GEFs 722 2003-09-25 2015-11-09 2023-01-20 9828 ENSG00000110237 OTTHUMG00000167971 uc001otu.4 AF378754 NM_014786 CCDS8221 Q96PE2 "11559528|12071859" MGI:2673002 RGD:1309890 617043 HGNC:21726 "ENST00000263674.4|NM_014786.4" HGNC:55485 ARHGEF17-AS1 ARHGEF17 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2021-03-11 2021-03-11 100287837 ENSG00000257038 NR_147696 -HGNC:17090 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "P114-RhoGEF|KIAA0521|MGC15913|p114RhoGEF" Rho-specific guanine nucleotide exchange factor p114 "rho/rac guanine nucleotide exchange factor (GEF) 18|Rho/Rac guanine nucleotide exchange factor (GEF) 18" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2004-01-09 2015-11-09 2023-01-20 23370 ENSG00000104880 OTTHUMG00000177342 uc002mgh.4 AK074372 NM_015318 "CCDS45946|CCDS92502|CCDS12177" Q6ZSZ5 "9628581|11318610" MGI:2142567 RGD:1311448 616432 HGNC:17090 "ENST00000668164.2|NM_001367823.1" HGNC:17090 -HGNC:55284 ARHGEF18-AS1 ARHGEF18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 Antisense RNAs 1987 2020-10-14 2020-10-14 118827816 ENSG00000267852 +HGNC:17090 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "P114-RhoGEF|KIAA0521|MGC15913|p114RhoGEF" Rho-specific guanine nucleotide exchange factor p114 "rho/rac guanine nucleotide exchange factor (GEF) 18|Rho/Rac guanine nucleotide exchange factor (GEF) 18" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2004-01-09 2015-11-09 2023-01-20 23370 ENSG00000104880 OTTHUMG00000177342 uc002mgh.4 AK074372 NM_015318 "CCDS45946|CCDS12177|CCDS92502" Q6ZSZ5 "9628581|11318610" MGI:2142567 RGD:1311448 616432 HGNC:17090 "ENST00000668164.2|NM_001367823.1" HGNC:17090 +HGNC:55284 ARHGEF18-AS1 ARHGEF18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 Antisense RNAs 1987 2020-10-14 2020-10-14 118827816 ENSG00000267852 NR_186325 HGNC:26604 ARHGEF19 Rho guanine nucleotide exchange factor 19 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "FLJ33962|WGEF" ephexin2 Rho guanine nucleotide exchange factor (GEF) 19 Dbl family Rho GEFs 722 2004-03-05 2015-11-09 2023-01-20 128272 ENSG00000142632 OTTHUMG00000002219 uc001ayc.1 BC012982 NM_153213 CCDS170 Q8IW93 19503838 MGI:1925912 RGD:1304766 612496 HGNC:26604 "ENST00000270747.8|NM_153213.5" HGNC:39996 ARHGEF19-AS1 ARHGEF19 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 ARHGEF19 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100874233 ENSG00000234166 OTTHUMG00000002220 uc057cqq.1 ARHGEF19-AS1 HGNC:30275 ARHGEF25 Rho guanine nucleotide exchange factor 25 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "GEFT|p63RhoGEF" RAC/CDC42 exchange factor Rho guanine nucleotide exchange factor (GEF) 25 Dbl family Rho GEFs 722 2010-09-02 2015-11-09 2023-03-15 115557 ENSG00000240771 OTTHUMG00000152516 uc009zpy.5 NM_133483 "CCDS8947|CCDS44931" Q86VW2 12547822 MGI:1277173 RGD:735210 610215 HGNC:30275 "ENST00000286494.9|NM_182947.4" HGNC:24490 ARHGEF26 Rho guanine nucleotide exchange factor 26 protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "DKFZP434D146|SGEF" Src homology 3 domain-containing guanine nucleotide exchange factor Rho guanine nucleotide exchange factor (GEF) 26 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2010-08-20 2015-11-09 2023-01-20 26084 ENSG00000114790 OTTHUMG00000159098 uc021xgc.1 BC016628 NM_015595 "CCDS58858|CCDS46938" Q96DR7 "15133129|12697679" MGI:1918053 RGD:1562559 617552 HGNC:24490 "ENST00000465093.6|NM_015595.4" HGNC:41048 ARHGEF26-AS1 ARHGEF26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.2 03q25.2 ARHGEF26 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100507524 ENSG00000243069 OTTHUMG00000159647 uc003ezu.1 NR_037901 ARHGEF26-AS1 HGNC:41048 -HGNC:30322 ARHGEF28 Rho guanine nucleotide exchange factor 28 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "RGNEF|p190RhoGEF|RIP2" Rho guanine nucleotide exchange factor (GEF) 28 Dbl family Rho GEFs 722 2012-08-08 2015-11-09 2023-01-20 64283 ENSG00000214944 OTTHUMG00000162454 uc010izf.4 NM_001080479 "CCDS58957|CCDS93734|CCDS47231|CCDS54870" Q8N1W1 "9199174|11058585" MGI:1346016 RGD:1307061 612790 HGNC:30322 "ENST00000513042.7|NM_001177693.2" HGNC:30322 +HGNC:30322 ARHGEF28 Rho guanine nucleotide exchange factor 28 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "RGNEF|p190RhoGEF|RIP2" Rho guanine nucleotide exchange factor (GEF) 28 Dbl family Rho GEFs 722 2012-08-08 2015-11-09 2023-01-20 64283 ENSG00000214944 OTTHUMG00000162454 uc010izf.4 NM_001080479 "CCDS58957|CCDS54870|CCDS93734|CCDS47231" Q8N1W1 "9199174|11058585" MGI:1346016 RGD:1307061 612790 HGNC:30322 "ENST00000513042.7|NM_001177693.2" HGNC:30322 HGNC:56460 ARHGEF28P1 ARHGEF28 pseudogene 1 pseudogene pseudogene Approved 3q12.1 03q12.1 2022-10-19 2022-10-19 127379713 ENSG00000240572 NG_115710 PGOHUM00000299102 HGNC:37252 ARHGEF33 Rho guanine nucleotide exchange factor 33 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 Rho guanine nucleotide exchange factor (GEF) 33 Dbl family Rho GEFs 722 2010-04-13 2015-11-09 2023-01-20 100271715 ENSG00000214694 OTTHUMG00000153540 uc021vgd.2 NM_001145451 CCDS46263 A8MVX0 MGI:2685787 RGD:1560224 HGNC:37252 "ENST00000409978.7|NM_001145451.5" HGNC:38086 ARHGEF34P Rho guanine nucleotide exchange factor 34, pseudogene pseudogene pseudogene Approved 7q35 07q35 Rho guanine nucleotide exchange factor (GEF) 34, pseudogene Dbl family Rho GEFs 722 2013-05-09 2015-11-09 2015-11-09 728377 ENSG00000204959 OTTHUMG00000158008 NR_033942 PGOHUM00000250918 HGNC:38086 @@ -1523,22 +1523,22 @@ HGNC:25968 ARHGEF38 Rho guanine nucleotide exchange factor 38 protein-coding gen HGNC:41483 ARHGEF38-IT1 ARHGEF38 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 ARHGEF38 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874374 ENSG00000249885 OTTHUMG00000161056 uc031sgs.2 NR_046840 ARHGEF38-IT1 HGNC:41483 HGNC:25909 ARHGEF39 Rho guanine nucleotide exchange factor 39 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 FLJ14642 C9orf100 "chromosome 9 open reading frame 100|Rho guanine nucleotide exchange factor (GEF) 39" Dbl family Rho GEFs 722 2004-03-11 2012-08-08 2015-11-09 2023-01-20 84904 ENSG00000137135 OTTHUMG00000019869 uc003zxm.2 AK001187 NM_032818 CCDS6584 Q8N4T4 22327280 MGI:3036286 RGD:1310376 HGNC:25909 "ENST00000378387.4|NM_032818.3" HGNC:25516 ARHGEF40 Rho guanine nucleotide exchange factor 40 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "solo|FLJ10357" Rho guanine nucleotide exchange factor (GEF) 40 Dbl family Rho GEFs 722 2010-09-01 2015-11-09 2023-01-20 55701 ENSG00000165801 OTTHUMG00000171359 uc001vzp.5 NM_001278529 CCDS32041 Q8TER5 16143467 MGI:2685515 RGD:1308093 610018 HGNC:25516 "ENST00000298694.9|NM_018071.5" -HGNC:11110 ARID1A AT-rich interaction domain 1A protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "B120|P270|C10rf4|BAF250|BAF250a" "C1orf4|SMARCF1" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1|AT rich interactive domain 1A (SWI- like)|AT rich interactive domain 1A (SWI-like)" "AT-rich interaction domain containing|Armadillo like helical domain containing|BAF complex" "418|1492|1604" 2000-06-26 2004-01-30 2015-11-17 2023-03-15 8289 ENSG00000117713 OTTHUMG00000004004 uc001bmv.2 AB001895 NM_139135 "CCDS44091|CCDS285" O14497 "9630625|9434167" MGI:1935147 RGD:1310500 LRG_875|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_875.xml ARID1A 603024 293103 HGNC:11110 "ENST00000324856.13|NM_006015.6" HGNC:11110 -HGNC:18040 ARID1B AT-rich interaction domain 1B protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "KIAA1235|ELD/OSA1|p250R|BAF250b|DAN15|6A3-5|SMARCF2" AT rich interactive domain 1B (SWI1-like) "AT-rich interaction domain containing|Armadillo like helical domain containing|BAF complex" "418|1492|1604" 2004-01-28 2015-11-17 2023-01-20 57492 ENSG00000049618 OTTHUMG00000015890 uc003qqp.4 AF521671 NM_020732 "CCDS87460|CCDS87459|CCDS55072" Q8NFD5 MGI:1926129 RGD:708504 ARID1B 614556 293095 HGNC:18040 "ENST00000636930.2|NM_001374828.1" HGNC:18040 +HGNC:11110 ARID1A AT-rich interaction domain 1A protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "B120|P270|C10rf4|BAF250|BAF250a" "C1orf4|SMARCF1" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1|AT rich interactive domain 1A (SWI- like)|AT rich interactive domain 1A (SWI-like)" "AT-rich interaction domain containing|Armadillo like helical domain containing|BAF complex" "418|1492|1604" 2000-06-26 2004-01-30 2015-11-17 2023-03-15 8289 ENSG00000117713 OTTHUMG00000004004 uc001bmv.2 AB001895 NM_139135 "CCDS285|CCDS44091" O14497 "9630625|9434167" MGI:1935147 RGD:1310500 LRG_875|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_875.xml ARID1A 603024 293103 HGNC:11110 "ENST00000324856.13|NM_006015.6" HGNC:11110 +HGNC:18040 ARID1B AT-rich interaction domain 1B protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "KIAA1235|ELD/OSA1|p250R|BAF250b|DAN15|6A3-5|SMARCF2" AT rich interactive domain 1B (SWI1-like) "AT-rich interaction domain containing|Armadillo like helical domain containing|BAF complex" "418|1492|1604" 2004-01-28 2015-11-17 2023-01-20 57492 ENSG00000049618 OTTHUMG00000015890 uc003qqp.4 AF521671 NM_020732 "CCDS55072|CCDS87459|CCDS87460" Q8NFD5 MGI:1926129 RGD:708504 ARID1B 614556 293095 HGNC:18040 "ENST00000636930.2|NM_001374828.1" HGNC:18040 HGNC:18037 ARID2 AT-rich interaction domain 2 protein-coding gene gene with protein product Approved 12q12 12q12 "KIAA1557|DKFZp686G052|FLJ30619|BAF200|SMARCF3" AT rich interactive domain 2 (ARID, RFX-like) "AT-rich interaction domain containing|Armadillo like helical domain containing|PBAF complex" "418|1492|1605" 2004-01-28 2015-11-17 2023-01-20 196528 ENSG00000189079 OTTHUMG00000150487 uc001ros.2 NM_152641 CCDS31783 Q68CP9 MGI:1924294 RGD:1311105 ARID2 609539 469962 HGNC:18037 "ENST00000334344.11|NM_152641.4" HGNC:18037 HGNC:3031 ARID3A AT-rich interaction domain 3A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 BRIGHT DRIL1 "dead ringer-like 1 (Drosophila)|AT rich interactive domain 3A (BRIGHT- like)|AT rich interactive domain 3A (BRIGHT-like)" AT-rich interaction domain containing 418 1997-08-22 2004-01-30 2015-11-17 2023-01-20 1820 ENSG00000116017 OTTHUMG00000182018 uc002lql.4 U88047 NM_005224 CCDS12050 Q99856 9722953 MGI:1328360 RGD:1305299 603265 HGNC:3031 "ENST00000263620.8|NM_005224.3" -HGNC:14350 ARID3B AT-rich interaction domain 3B protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "BDP|DRIL2" "AT rich interactive domain 3B (BRIGHT- like)|AT rich interactive domain 3B (BRIGHT-like)" AT-rich interaction domain containing 418 2004-01-28 2015-11-17 2023-01-20 10620 ENSG00000179361 OTTHUMG00000141321 uc002ayd.4 NM_006465 "CCDS10264|CCDS76777" Q8IVW6 MGI:1930768 RGD:1306335 612457 HGNC:14350 "ENST00000346246.10|NM_006465.4" +HGNC:14350 ARID3B AT-rich interaction domain 3B protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "BDP|DRIL2" "AT rich interactive domain 3B (BRIGHT- like)|AT rich interactive domain 3B (BRIGHT-like)" AT-rich interaction domain containing 418 2004-01-28 2015-11-17 2023-01-20 10620 ENSG00000179361 OTTHUMG00000141321 uc002ayd.4 NM_006465 "CCDS76777|CCDS10264" Q8IVW6 MGI:1930768 RGD:1306335 612457 HGNC:14350 "ENST00000346246.10|NM_006465.4" HGNC:54553 ARID3BP1 ARID3B pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 2019-10-14 2020-01-21 646555 ENSG00000227288 NG_005808 HGNC:21209 ARID3C AT-rich interaction domain 3C protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "AT rich interactive domain 3C (BRIGHT- like)|AT rich interactive domain 3C (BRIGHT-like)" AT-rich interaction domain containing 418 2004-01-28 2015-11-17 2023-01-20 138715 ENSG00000205143 OTTHUMG00000000445 uc011lon.3 NM_001017363 CCDS35006 A6NKF2 MGI:3650624 RGD:1560943 HGNC:21209 "ENST00000378909.4|NM_001017363.4" -HGNC:9885 ARID4A AT-rich interaction domain 4A protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "RBP1|RBP-1" RBBP1 "retinoblastoma-binding protein 1|AT rich interactive domain 4A (RBP1-like)" AT-rich interaction domain containing 418 1992-09-17 2004-01-28 2015-11-17 2023-01-20 5926 ENSG00000032219 OTTHUMG00000140320 uc001xdp.4 S57153 NM_023001 "CCDS9732|CCDS9733|CCDS45114" P29374 "1857421|8455946" MGI:2444354 RGD:1307442 180201 HGNC:9885 "ENST00000355431.8|NM_002892.4" -HGNC:15550 ARID4B AT-rich interaction domain 4B protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "BCAA|BRCAA1|SAP180" RBP1L1 "retinoblastoma binding protein 1-like 1|AT rich interactive domain 4B (RBP1- like)|AT rich interactive domain 4B (RBP1-like)" "AT-rich interaction domain containing|MicroRNA protein coding host genes" "418|1691" 2003-05-28 2004-01-30 2015-11-17 2023-01-20 51742 ENSG00000054267 OTTHUMG00000039621 uc001hwq.3 AF214114 NM_016374 "CCDS31061|CCDS31060" Q4LE39 11481388 MGI:2137512 RGD:619919 609696 HGNC:15550 "ENST00000264183.9|NM_016374.6" +HGNC:9885 ARID4A AT-rich interaction domain 4A protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "RBP1|RBP-1" RBBP1 "retinoblastoma-binding protein 1|AT rich interactive domain 4A (RBP1-like)" AT-rich interaction domain containing 418 1992-09-17 2004-01-28 2015-11-17 2023-01-20 5926 ENSG00000032219 OTTHUMG00000140320 uc001xdp.4 S57153 NM_023001 "CCDS9732|CCDS45114|CCDS9733" P29374 "1857421|8455946" MGI:2444354 RGD:1307442 180201 HGNC:9885 "ENST00000355431.8|NM_002892.4" +HGNC:15550 ARID4B AT-rich interaction domain 4B protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "BCAA|BRCAA1|SAP180" RBP1L1 "retinoblastoma binding protein 1-like 1|AT rich interactive domain 4B (RBP1- like)|AT rich interactive domain 4B (RBP1-like)" "AT-rich interaction domain containing|MicroRNA protein coding host genes" "418|1691" 2003-05-28 2004-01-30 2015-11-17 2023-01-20 51742 ENSG00000054267 OTTHUMG00000039621 uc001hwq.3 AF214114 NM_016374 "CCDS31060|CCDS31061" Q4LE39 11481388 MGI:2137512 RGD:619919 609696 HGNC:15550 "ENST00000264183.9|NM_016374.6" HGNC:17361 ARID5A AT-rich interaction domain 5A protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "MRF-1|RP11-363D14" modulator recognition factor 1 AT rich interactive domain 5A (MRF1-like) AT-rich interaction domain containing 418 2004-01-28 2015-11-17 2023-01-20 10865 ENSG00000196843 OTTHUMG00000155229 uc002swe.4 M62324 NM_212481 "CCDS33251|CCDS82484" Q03989 8649988 MGI:2443039 RGD:1311041 611583 HGNC:17361 "ENST00000357485.8|NM_212481.3" -HGNC:17362 ARID5B AT-rich interaction domain 5B protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "FLJ21150|MRF2" AT rich interactive domain 5B (MRF1-like) AT-rich interaction domain containing 418 2004-01-28 2015-11-17 2023-01-20 84159 ENSG00000150347 OTTHUMG00000018298 uc001jlt.3 M73837 NM_032199 "CCDS58082|CCDS31208" Q14865 "11483573|11478881" MGI:2175912 RGD:1311735 608538 HGNC:17362 "ENST00000279873.12|NM_032199.3" HGNC:17362 +HGNC:17362 ARID5B AT-rich interaction domain 5B protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "FLJ21150|MRF2" AT rich interactive domain 5B (MRF1-like) AT-rich interaction domain containing 418 2004-01-28 2015-11-17 2023-01-20 84159 ENSG00000150347 OTTHUMG00000018298 uc001jlt.3 M73837 NM_032199 "CCDS31208|CCDS58082" Q14865 "11483573|11478881" MGI:2175912 RGD:1311735 608538 HGNC:17362 "ENST00000279873.12|NM_032199.3" HGNC:17362 HGNC:689 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "HARI|HHARI|UBCH7BP|ARI" ariadne, Drosophila, homolog of "ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1|ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)" RBR E3 ubiquitin ligases 1391 2000-08-24 2013-10-03 2023-01-20 25820 ENSG00000166233 OTTHUMG00000133474 uc002aut.5 AF072832 NM_005744 CCDS10244 Q9Y4X5 "10521492|24058416" MGI:1344363 RGD:1308131 605624 469964 HGNC:689 "ENST00000379887.9|NM_005744.5" HGNC:690 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 TRIAD1 all-trans retinoic acid inducible RING finger "ariadne (Drosophila) homolog 2|ariadne homolog 2 (Drosophila)" RBR E3 ubiquitin ligases 1391 2000-08-24 2013-10-03 2023-01-20 10425 ENSG00000177479 OTTHUMG00000133547 uc003cvb.4 AF099149 NM_006321 CCDS2780 O95376 "10422847|24058416" MGI:1344361 RGD:1305839 605615 HGNC:690 "ENST00000356401.9|NM_006321.4" HGNC:34425 ARIH2OS ARIH2 opposite strand lncRNA non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 C3orf71 "chromosome 3 open reading frame 71|ariadne homolog 2 opposite strand|ariadne RBR E3 ubiquitin protein ligase 2 opposite strand" Long non-coding RNAs with non-systematic symbols 1992 2008-07-08 2012-10-08 2019-10-30 2023-03-15 646450 ENSG00000221883 OTTHUMG00000156672 uc010hkk.1 DA461567 NR_161301 Q8N7S6 MGI:3642291 RGD:11443615 HGNC:34425 HGNC:31732 ARIH2P1 ariadne RBR E3 ubiquitin protein ligase 2 pseudogene 1 pseudogene pseudogene Approved 18q12.1 18q12.1 ARIH2P "ariadne homolog 2 pseudogene|ariadne homolog 2 pseudogene 1" 2008-01-31 2010-01-12 2015-06-26 2017-10-25 390844 ENSG00000266296 OTTHUMG00000179464 XR_016965 PGOHUM00000294759 HGNC:31732 -HGNC:31696 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "ARKL2|RNF111L2|Ark2C|lncAMPC" lncRNA activated in metastatic PCa RNF165 ring finger protein 165 Ring finger proteins 58 2005-01-07 2023-02-20 2023-02-20 2023-02-20 494470 ENSG00000141622 OTTHUMG00000179230 uc002lcb.2 BC012190 NM_152470 "CCDS32823|CCDS58621" Q6ZSG1 "23610558|26656854" MGI:2444521 RGD:1560744 HGNC:31696 "ENST00000269439.12|NM_152470.3" +HGNC:31696 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "ARKL2|RNF111L2|Ark2C|lncAMPC" lncRNA activated in metastatic PCa RNF165 ring finger protein 165 Ring finger proteins 58 2005-01-07 2023-02-20 2023-02-20 2023-02-20 494470 ENSG00000141622 OTTHUMG00000179230 uc002lcb.2 BC012190 NM_152470 "CCDS58621|CCDS32823" Q6ZSG1 "23610558|26656854" MGI:2444521 RGD:1560744 HGNC:31696 "ENST00000269439.12|NM_152470.3" HGNC:28172 ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "MGC12909|ARKL1|RNF111L1|Ark2N" ARKadia-like 1 C18orf25 chromosome 18 open reading frame 25 2004-05-19 2023-02-20 2023-02-20 2023-02-20 147339 ENSG00000152242 OTTHUMG00000179190 uc032hdb.2 AL713661 NM_145055 "CCDS42430|CCDS42431" Q96B23 "15722956|24216761" MGI:2444951 RGD:1308601 HGNC:28172 "ENST00000615052.5|NM_145055.5" HGNC:692 ARL1 ADP ribosylation factor like GTPase 1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 ARFL1 ADP-ribosylation factor-like 1 ARF GTPase family 357 1994-04-14 2015-11-19 2023-01-20 400 ENSG00000120805 OTTHUMG00000170271 uc001tib.4 BX537387 NM_001177 "CCDS73510|CCDS44958" P40616 "8798635|19224922" MGI:99436 RGD:621326 603425 HGNC:692 "ENST00000261636.13|NM_001177.6" HGNC:693 ARL2 ADP ribosylation factor like GTPase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 ARFL2 ADP-ribosylation factor-like 2 "ARF GTPase family|MicroRNA protein coding host genes" "357|1691" 1994-04-13 2015-11-19 2023-01-20 402 ENSG00000213465 OTTHUMG00000165728 uc001och.5 AF493888 NM_001667 "CCDS8088|CCDS55770" P36404 "8415637|9253601" MGI:1928393 RGD:69326 601175 HGNC:693 "ENST00000246747.9|NM_001667.4" HGNC:693 @@ -1563,7 +1563,7 @@ HGNC:52373 ARL4AP4 ADP ribosylation factor like GTPase 4A pseudogene 4 pseudogen HGNC:52374 ARL4AP5 ADP ribosylation factor like GTPase 4A pseudogene 5 pseudogene pseudogene Approved 6q25.1 06q25.1 2016-08-18 2016-08-18 101928788 ENSG00000218996 OTTHUMG00000015826 XM_047419643 PGOHUM00000301991 HGNC:52374 HGNC:698 ARL4C ADP ribosylation factor like GTPase 4C protein-coding gene gene with protein product Approved 2q37.1 02q37.1 LAK ARL7 "ADP-ribosylation factor-like 7|ADP-ribosylation factor-like 4C" ARF GTPase family 357 1999-06-02 2005-11-03 2015-11-19 2023-01-20 10123 ENSG00000188042 OTTHUMG00000133291 uc002vvn.5 AB016811 NM_005737 "CCDS63169|CCDS2512" P56559 10462049 MGI:2445172 RGD:1589685 604787 HGNC:698 "ENST00000339728.6|NM_001282431.2" HGNC:656 ARL4D ADP ribosylation factor like GTPase 4D protein-coding gene gene with protein product Approved 17q21.31 17q21.31 ARF4L "ADP-ribosylation factor 4-like|ADP-ribosylation factor-like 4D" ARF GTPase family 357 1995-08-23 2005-11-03 2015-11-19 2023-01-20 379 ENSG00000175906 OTTHUMG00000180881 uc002idt.4 AB060692 NM_001661 CCDS11463 P49703 "7590735|22927989" MGI:1933155 RGD:1306875 600732 HGNC:656 "ENST00000320033.5|NM_001661.4" -HGNC:696 ARL5A ADP ribosylation factor like GTPase 5A protein-coding gene gene with protein product Approved 2q23.3 02q23.3 ARL5 "ADP-ribosylation factor-like 5|ADP-ribosylation factor-like 5A" ARF GTPase family 357 1999-11-26 2005-11-03 2015-11-19 2023-01-20 26225 ENSG00000162980 OTTHUMG00000131887 uc002txx.2 AF100740 NM_012097 "CCDS2195|CCDS46425" Q9Y689 15896705 MGI:1922673 RGD:621327 608960 HGNC:696 "ENST00000295087.13|NM_012097.4" +HGNC:696 ARL5A ADP ribosylation factor like GTPase 5A protein-coding gene gene with protein product Approved 2q23.3 02q23.3 ARL5 "ADP-ribosylation factor-like 5|ADP-ribosylation factor-like 5A" ARF GTPase family 357 1999-11-26 2005-11-03 2015-11-19 2023-01-20 26225 ENSG00000162980 OTTHUMG00000131887 uc002txx.2 AF100740 NM_012097 "CCDS46425|CCDS2195" Q9Y689 15896705 MGI:1922673 RGD:621327 608960 HGNC:696 "ENST00000295087.13|NM_012097.4" HGNC:43933 ARL5AP1 ARL5A pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 "ADP-ribosylation factor-like 5A pseudogene 1|ADP ribosylation factor like GTPase 5A pseudogene 1" 2012-05-10 2020-05-20 2020-05-20 641382 ENSG00000227864 OTTHUMG00000022265 NG_005344 PGOHUM00000241514 HGNC:43933 HGNC:43937 ARL5AP2 ARL5A pseudogene 2 pseudogene pseudogene Approved 10q24.2 10q24.2 "ADP-ribosylation factor-like 5A pseudogene 2|ADP ribosylation factor like GTPase 5A pseudogene 2" 2012-05-10 2020-05-20 2020-05-20 641380 ENSG00000236818 OTTHUMG00000018878 NG_023416 PGOHUM00000238605 HGNC:43937 HGNC:43935 ARL5AP3 ARL5A pseudogene 3 pseudogene pseudogene Approved 1p31.3 01p31.3 "ADP-ribosylation factor-like 5A pseudogene 3|ADP ribosylation factor like GTPase 5A pseudogene 3" 2012-05-10 2020-05-20 2020-05-20 106480778 ENSG00000228431 OTTHUMG00000057527 NG_011753 PGOHUM00000244062 HGNC:43935 @@ -1576,14 +1576,14 @@ HGNC:697 ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 pro HGNC:23178 ARL6IP1P1 ADP ribosylation factor like GTPase 6 interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 ARL6IPP1 "ADP-ribosylation factor-like 6 interacting protein pseudogene 1|ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 1" 2003-09-30 2009-12-17 2015-11-19 2015-11-19 100288702 ENSG00000255664 OTTHUMG00000168891 NG_022838 HGNC:23178 HGNC:44971 ARL6IP1P2 ADP ribosylation factor like GTPase 6 interacting protein 1 pseudogene 2 pseudogene pseudogene Approved 10p11.21 10p11.21 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 2 2012-12-20 2015-11-19 2015-11-19 646348 ENSG00000225355 OTTHUMG00000017967 NG_022169 PGOHUM00000258514 HGNC:44971 HGNC:44972 ARL6IP1P3 ADP ribosylation factor like GTPase 6 interacting protein 1 pseudogene 3 pseudogene pseudogene Approved 11q14.1 11q14.1 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 3 2012-12-20 2015-11-19 2015-11-19 729790 ENSG00000255014 OTTHUMG00000166792 NG_021793 PGOHUM00000258573 HGNC:44972 -HGNC:18076 ARL6IP4 ADP ribosylation factor like GTPase 6 interacting protein 4 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SR-25|SRp25|SFRS20|SRrp37" "SRp25 nuclear protein|splicing factor, arginine/serine-rich 20" "ADP-ribosylation-like factor 6 interacting protein 4|ADP-ribosylation factor-like 6 interacting protein 4" 2002-09-18 2015-11-19 2023-03-15 51329 ENSG00000182196 OTTHUMG00000168779 uc001uee.4 AB035384 NM_018694 "CCDS91765|CCDS61273|CCDS91764|CCDS31923|CCDS53843|CCDS45004" Q66PJ3 "10708573|11884129" MGI:1929500 RGD:1307657 607668 HGNC:18076 "ENST00000315580.10|NM_018694.4" +HGNC:18076 ARL6IP4 ADP ribosylation factor like GTPase 6 interacting protein 4 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SR-25|SRp25|SFRS20|SRrp37" "SRp25 nuclear protein|splicing factor, arginine/serine-rich 20" "ADP-ribosylation-like factor 6 interacting protein 4|ADP-ribosylation factor-like 6 interacting protein 4" 2002-09-18 2015-11-19 2023-03-15 51329 ENSG00000182196 OTTHUMG00000168779 uc001uee.4 AB035384 NM_018694 "CCDS91765|CCDS91764|CCDS61273|CCDS53843|CCDS45004|CCDS31923" Q66PJ3 "10708573|11884129" MGI:1929500 RGD:1307657 607668 HGNC:18076 "ENST00000315580.10|NM_018694.4" HGNC:16937 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "PRAF3|JWA|GTRAP3-18|DERP11|HSPC127|Yip6b" PRA1 domain family 3 ADP-ribosylation factor-like 6 interacting protein 5 YIP family 1144 2004-09-01 2015-11-19 2023-01-20 10550 ENSG00000144746 OTTHUMG00000158773 uc003dnr.4 AF070523 NM_006407 CCDS2912 O75915 "11242046|11042152" MGI:1929501 RGD:708572 605709 HGNC:16937 "ENST00000273258.4|NM_006407.4" -HGNC:24048 ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 MGC33864 ADP-ribosylation factor-like 6 interacting protein 6 2004-11-29 2015-11-19 2023-01-20 151188 ENSG00000177917 OTTHUMG00000131901 uc002tyn.4 AK023109 NM_152522 "CCDS2197|CCDS92880" Q8N6S5 MGI:1929507 RGD:1564819 616495 HGNC:24048 "ENST00000326446.10|NM_152522.7" -HGNC:25192 ARL8A ADP ribosylation factor like GTPase 8A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ45195|Gie2" GTPase indispensable for equal segregation of chromosomes 2 ARL10B "ADP-ribosylation factor-like 10B|ADP-ribosylation factor-like 8A" ARF GTPase family 357 2004-02-05 2005-11-03 2015-11-19 2023-01-20 127829 ENSG00000143862 OTTHUMG00000035923 uc001gxk.3 BC015408 NM_138795 "CCDS1421|CCDS73004" Q96BM9 "15331635|16537643" MGI:1915974 RGD:1565940 616597 HGNC:25192 "ENST00000272217.7|NM_138795.4" HGNC:25192 +HGNC:24048 ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 MGC33864 ADP-ribosylation factor-like 6 interacting protein 6 2004-11-29 2015-11-19 2023-01-20 151188 ENSG00000177917 OTTHUMG00000131901 uc002tyn.4 AK023109 NM_152522 "CCDS92880|CCDS2197" Q8N6S5 MGI:1929507 RGD:1564819 616495 HGNC:24048 "ENST00000326446.10|NM_152522.7" +HGNC:25192 ARL8A ADP ribosylation factor like GTPase 8A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ45195|Gie2" GTPase indispensable for equal segregation of chromosomes 2 ARL10B "ADP-ribosylation factor-like 10B|ADP-ribosylation factor-like 8A" ARF GTPase family 357 2004-02-05 2005-11-03 2015-11-19 2023-01-20 127829 ENSG00000143862 OTTHUMG00000035923 uc001gxk.3 BC015408 NM_138795 "CCDS73004|CCDS1421" Q96BM9 "15331635|16537643" MGI:1915974 RGD:1565940 616597 HGNC:25192 "ENST00000272217.7|NM_138795.4" HGNC:25192 HGNC:25564 ARL8B ADP ribosylation factor like GTPase 8B protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "FLJ10702|Gie1" GTPase indispensable for equal segregation of chromosomes 1 ARL10C "ADP-ribosylation factor-like 10C|ADP-ribosylation factor-like 8B" ARF GTPase family 357 2004-02-05 2005-11-03 2015-11-19 2023-01-20 55207 ENSG00000134108 OTTHUMG00000090463 uc003bqg.4 AK001564 NM_018184 CCDS2566 Q9NVJ2 "24088571|16537643|15331635" MGI:1914416 RGD:1562830 616596 HGNC:25564 "ENST00000256496.8|NM_018184.3" HGNC:56628 ARL8BP1 ARL8B pseudogene 1 pseudogene pseudogene Approved 3q29 03q29 2022-11-09 2022-11-09 127566425 ENSG00000228413 NG_148569 PGOHUM00000299710 HGNC:56629 ARL8BP2 ARL8B pseudogene 2 pseudogene pseudogene Approved 1p35.3 01p35.3 2022-11-09 2022-11-09 100131223 ENSG00000214812 NG_022714 PGOHUM00000295605 -HGNC:23592 ARL9 ADP ribosylation factor like GTPase 9 protein-coding gene gene with protein product Approved 4q12 04q12 ADP-ribosylation factor like GTPase 9 ARF GTPase family 357 2003-11-25 2015-12-17 2023-01-20 132946 ENSG00000196503 OTTHUMG00000184000 uc003hby.2 AY439003 NM_206919 "CCDS59474|CCDS87224" Q6T311 MGI:1915496 RGD:1303337 612405 HGNC:23592 "ENST00000640821.3|NM_001363794.2" +HGNC:23592 ARL9 ADP ribosylation factor like GTPase 9 protein-coding gene gene with protein product Approved 4q12 04q12 ADP-ribosylation factor like GTPase 9 ARF GTPase family 357 2003-11-25 2015-12-17 2023-01-20 132946 ENSG00000196503 OTTHUMG00000184000 uc003hby.2 AY439003 NM_206919 "CCDS87224|CCDS59474" Q6T311 MGI:1915496 RGD:1303337 612405 HGNC:23592 "ENST00000640821.3|NM_001363794.2" HGNC:22042 ARL10 ADP ribosylation factor like GTPase 10 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 ARL10A "ADP-ribosylation factor-like 10A|ADP-ribosylation factor like GTPase 10" "ARF GTPase family|MicroRNA protein coding host genes" "357|1691" 2003-12-11 2005-11-03 2015-12-17 2023-01-20 285598 ENSG00000175414 OTTHUMG00000130655 uc003mec.2 BK001673 NM_173664 CCDS4400 Q8N8L6 MGI:1930788 RGD:1303298 HGNC:22042 "ENST00000310389.6|NM_173664.6" HGNC:24046 ARL11 ADP ribosylation factor like GTPase 11 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "ARLTS1|FLJ33930" ADP-ribosylation factor-like tumor suppressor gene 1 ADP-ribosylation factor like GTPase 11 ARF GTPase family 357 2004-02-05 2015-12-17 2023-01-20 115761 ENSG00000152213 OTTHUMG00000016919 uc001vdf.2 AF441378 NM_138450 CCDS9419 Q969Q4 17699778 MGI:2444054 RGD:1308083 609351 121417 HGNC:24046 "ENST00000282026.2|NM_138450.6" HGNC:31709 ARL13A ADP ribosylation factor like GTPase 13A protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 ARL13 "ADP-ribosylation factor-like 13|ADP-ribosylation factor like GTPase 13A" ARF GTPase family 357 2004-06-17 2005-11-18 2015-12-17 2023-03-15 392509 ENSG00000174225 OTTHUMG00000022013 uc010nng.4 NM_001162491 CCDS55463 Q5H913 MGI:1921698 RGD:1562947 HGNC:31709 "ENST00000450049.7|NM_001162491.2" @@ -1594,30 +1594,30 @@ HGNC:55517 ARL14EP-DT ARL14EP divergent transcript non-coding RNA RNA, long non- HGNC:44201 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like protein-coding gene gene with protein product Approved 5q23.1 05q23.1 ADP-ribosylation factor like GTPase 14 effector protein like 2012-07-09 2015-12-17 2023-01-20 644100 ENSG00000268223 OTTHUMG00000182725 uc021yct.3 NM_001195581 CCDS59490 P0DKL9 MGI:2685795 RGD:1595054 HGNC:44201 "ENST00000686077.1|NM_001195581.2" HGNC:54676 ARL14EPP1 ARL14EP pseudogene 1 pseudogene pseudogene Approved 2p22.2 02p22.2 2019-11-27 2020-01-21 107985793 ENSG00000224891 HGNC:25945 ARL15 ADP ribosylation factor like GTPase 15 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FLJ20051 ARFRP2 "ADP-ribosylation factor related protein 2|ADP-ribosylation factor like GTPase 15" "ARF GTPase family|MicroRNA protein coding host genes" "357|1691" 2004-02-05 2005-11-03 2015-12-17 2023-01-20 54622 ENSG00000185305 OTTHUMG00000162287 uc003jpg.1 BC026093 NM_019087 CCDS54850 Q9NXU5 28322786 MGI:2442308 RGD:1597407 HGNC:25945 "ENST00000504924.6|NM_019087.3" -HGNC:27902 ARL16 ADP ribosylation factor like GTPase 16 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 ADP-ribosylation factor like GTPase 16 ARF GTPase family 357 2005-11-18 2015-12-17 2023-01-20 339231 ENSG00000214087 OTTHUMG00000178103 uc060llx.1 NM_001040025 "CCDS45813|CCDS86652" Q0P5N6 21233210 MGI:1917567 RGD:1590059 619117 HGNC:27902 "ENST00000622299.5|NM_001040025.3" -HGNC:24096 ARL17A ADP ribosylation factor like GTPase 17A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "ARF1P2|ARL17P1" "ADP-ribosylation factor 1 pseudogene 2|ADP-ribosylation factor-like 17 pseudogene 1|ADP-ribosylation factor like GTPase 17A" ARF GTPase family 357 2005-11-07 2009-11-17 2015-12-17 2023-01-20 51326 ENSG00000185829 OTTHUMG00000132817 uc002iks.3 AF208864 NM_016632 "CCDS45718|CCDS74086|CCDS74087|CCDS82146|CCDS45717|CCDS92351" Q8IVW1 28380446 HGNC:24096 "ENST00000336125.6|NM_001113738.2" -HGNC:32387 ARL17B ADP ribosylation factor like GTPase 17B protein-coding gene gene with protein product Approved 17q21.31 17q21.31 ARL17 "ADP-ribosylation factor-like 17|ADP-ribosylation factor-like 17B" ARF GTPase family 357 2007-03-19 2009-11-17 2015-11-19 2023-03-15 100506084 ENSG00000228696 OTTHUMG00000178031 uc002ikk.4 AF493886 NM_001039083 "CCDS58557|CCDS54137" Q8IVW1 RGD:621271 HGNC:32387 "ENST00000450673.4|NM_001039083.5" +HGNC:27902 ARL16 ADP ribosylation factor like GTPase 16 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 ADP-ribosylation factor like GTPase 16 ARF GTPase family 357 2005-11-18 2015-12-17 2023-01-20 339231 ENSG00000214087 OTTHUMG00000178103 uc060llx.1 NM_001040025 "CCDS86652|CCDS45813" Q0P5N6 21233210 MGI:1917567 RGD:1590059 619117 HGNC:27902 "ENST00000622299.5|NM_001040025.3" +HGNC:24096 ARL17A ADP ribosylation factor like GTPase 17A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "ARF1P2|ARL17P1" "ADP-ribosylation factor 1 pseudogene 2|ADP-ribosylation factor-like 17 pseudogene 1|ADP-ribosylation factor like GTPase 17A" ARF GTPase family 357 2005-11-07 2009-11-17 2015-12-17 2023-01-20 51326 ENSG00000185829 OTTHUMG00000132817 uc002iks.3 AF208864 NM_016632 "CCDS92351|CCDS45717|CCDS74087|CCDS82146|CCDS45718|CCDS74086" Q8IVW1 28380446 HGNC:24096 "ENST00000336125.6|NM_001113738.2" +HGNC:32387 ARL17B ADP ribosylation factor like GTPase 17B protein-coding gene gene with protein product Approved 17q21.31 17q21.31 ARL17 "ADP-ribosylation factor-like 17|ADP-ribosylation factor-like 17B" ARF GTPase family 357 2007-03-19 2009-11-17 2015-11-19 2023-03-15 100506084 ENSG00000228696 OTTHUMG00000178031 uc002ikk.4 AF493886 NM_001039083 "CCDS54137|CCDS58557" Q8IVW1 RGD:621271 HGNC:32387 "ENST00000450673.4|NM_001039083.5" HGNC:53032 ARLNC1 androgen receptor regulated long noncoding RNA 1 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 PRCAT47 "prostate cancer-associated 47|AR-regulated long noncoding RNA 1" LINC02170 long intergenic non-protein coding RNA 2170 Long non-coding RNAs with non-systematic symbols 1992 2017-01-09 2018-06-08 2018-06-08 2018-06-08 100996425 ENSG00000260896 OTTHUMG00000177012 NR_131947 29808028 618053 HGNC:53032 HGNC:17684 ARMC1 armadillo repeat containing 1 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "FLJ10511|Arcp" Armadillo repeat containing 409 2004-09-16 2023-01-20 55156 ENSG00000104442 OTTHUMG00000164374 uc003xvl.4 BC011607 NM_018120 "CCDS69490|CCDS6181" Q9NVT9 MGI:1921502 RGD:1560393 620385 HGNC:17684 "ENST00000276569.8|NM_018120.6" HGNC:23045 ARMC2 armadillo repeat containing 2 protein-coding gene gene with protein product Approved 6q21 06q21 "DKFZp434P0714|bA787I22.1" Armadillo repeat containing 409 2003-11-25 2023-01-20 84071 ENSG00000118690 OTTHUMG00000015335 uc003pss.6 BC030603 NM_032131 "CCDS69168|CCDS5069" Q8NEN0 MGI:1916449 RGD:1562413 618424 HGNC:23045 "ENST00000392644.9|NM_032131.6" HGNC:23045 HGNC:41008 ARMC2-AS1 ARMC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 ARMC2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-26 2012-08-15 2014-11-19 101929716 ENSG00000230290 OTTHUMG00000015334 uc063qmf.1 BG504478 NR_104137 ARMC2-AS1 HGNC:41008 -HGNC:30964 ARMC3 armadillo repeat containing 3 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "FLJ32827|CT81" cancer/testis antigen 81 Armadillo repeat containing 409 2004-02-12 2023-01-20 219681 ENSG00000165309 OTTHUMG00000017811 uc001irm.6 AK057389 NM_173081 "CCDS73073|CCDS60500|CCDS7142|CCDS60499" Q5W041 MGI:1918132 RGD:2319961 611226 HGNC:30964 "ENST00000298032.10|NM_173081.5" -HGNC:25781 ARMC5 armadillo repeat containing 5 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ13063 Armadillo repeat containing 409 2004-06-29 2023-01-20 79798 ENSG00000140691 OTTHUMG00000176618 uc002eca.5 AY217348 NM_024742 "CCDS73874|CCDS42155|CCDS45472" Q96C12 32023208 MGI:2384586 RGD:1306553 615549 392330 HGNC:25781 "ENST00000268314.9|NM_001105247.2" HGNC:25781 -HGNC:25049 ARMC6 armadillo repeat containing 6 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MGC19595 Armadillo repeat containing 409 2004-07-30 2023-01-20 93436 ENSG00000105676 OTTHUMG00000169271 uc002nlc.4 BX648486 NM_033415 "CCDS32965|CCDS56089" Q6NXE6 29948659 MGI:1924063 RGD:1306691 HGNC:25049 "ENST00000535612.6|NM_001199196.2" -HGNC:26168 ARMC7 armadillo repeat containing 7 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 FLJ22160 Armadillo repeat containing 409 2004-07-30 2023-01-20 79637 ENSG00000125449 OTTHUMG00000179345 uc002jmw.1 AK025813 NM_024585 "CCDS77109|CCDS77107|CCDS77108|CCDS11714" Q9H6L4 33509932 MGI:2679719 RGD:1310043 HGNC:26168 "ENST00000245543.6|NM_024585.4" -HGNC:24999 ARMC8 armadillo repeat containing 8 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "HSPC056|DKFZP434A043|GID5|VID28" GID complex subunit 5, VID28 homolog (S. cerevisiae) "Armadillo repeat containing|CTLH complex" "409|1561" 2004-07-12 2023-01-20 25852 ENSG00000114098 OTTHUMG00000159821 uc062ofg.1 NM_015396 "CCDS54646|CCDS87140|CCDS58853|CCDS75020|CCDS87139|CCDS58854|CCDS3098" Q8IUR7 11042152 MGI:1921375 RGD:1310477 618521 HGNC:24999 "ENST00000469044.6|NM_001363941.2" +HGNC:30964 ARMC3 armadillo repeat containing 3 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "FLJ32827|CT81" cancer/testis antigen 81 Armadillo repeat containing 409 2004-02-12 2023-01-20 219681 ENSG00000165309 OTTHUMG00000017811 uc001irm.6 AK057389 NM_173081 "CCDS60500|CCDS60499|CCDS73073|CCDS7142" Q5W041 MGI:1918132 RGD:2319961 611226 HGNC:30964 "ENST00000298032.10|NM_173081.5" +HGNC:25781 ARMC5 armadillo repeat containing 5 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ13063 Armadillo repeat containing 409 2004-06-29 2023-01-20 79798 ENSG00000140691 OTTHUMG00000176618 uc002eca.5 AY217348 NM_024742 "CCDS42155|CCDS73874|CCDS45472" Q96C12 32023208 MGI:2384586 RGD:1306553 615549 392330 HGNC:25781 "ENST00000268314.9|NM_001105247.2" HGNC:25781 +HGNC:25049 ARMC6 armadillo repeat containing 6 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MGC19595 Armadillo repeat containing 409 2004-07-30 2023-01-20 93436 ENSG00000105676 OTTHUMG00000169271 uc002nlc.4 BX648486 NM_033415 "CCDS56089|CCDS32965" Q6NXE6 29948659 MGI:1924063 RGD:1306691 HGNC:25049 "ENST00000535612.6|NM_001199196.2" +HGNC:26168 ARMC7 armadillo repeat containing 7 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 FLJ22160 Armadillo repeat containing 409 2004-07-30 2023-01-20 79637 ENSG00000125449 OTTHUMG00000179345 uc002jmw.1 AK025813 NM_024585 "CCDS77109|CCDS11714|CCDS77107|CCDS77108" Q9H6L4 33509932 MGI:2679719 RGD:1310043 HGNC:26168 "ENST00000245543.6|NM_024585.4" +HGNC:24999 ARMC8 armadillo repeat containing 8 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "HSPC056|DKFZP434A043|GID5|VID28" GID complex subunit 5, VID28 homolog (S. cerevisiae) "Armadillo repeat containing|CTLH complex" "409|1561" 2004-07-12 2023-01-20 25852 ENSG00000114098 OTTHUMG00000159821 uc062ofg.1 NM_015396 "CCDS54646|CCDS87139|CCDS58854|CCDS75020|CCDS87140|CCDS58853|CCDS3098" Q8IUR7 11042152 MGI:1921375 RGD:1310477 618521 HGNC:24999 "ENST00000469044.6|NM_001363941.2" HGNC:49918 ARMC8P1 armadillo repeat containing 8 pseudogene 1 pseudogene pseudogene Approved 9p13.1 09p13.1 2014-03-21 2014-03-21 100130871 ENSG00000225254 OTTHUMG00000019940 NG_028720 PGOHUM00000236034 HGNC:49918 -HGNC:20730 ARMC9 armadillo repeat containing 9 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "FLJ12584|KIAA1868|ARM|KU-MEL-1" "Armadillo repeat containing|MicroRNA protein coding host genes" "409|1691" 2005-10-04 2023-01-20 80210 ENSG00000135931 OTTHUMG00000133229 uc002vrq.6 BC004514 NM_025139 "CCDS92969|CCDS2484|CCDS92970|CCDS74666" Q7Z3E5 11347906 MGI:1926045 RGD:1305615 617612 HGNC:20730 "ENST00000611582.5|NM_001352754.2" HGNC:20730 -HGNC:21706 ARMC10 armadillo repeat containing 10 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC3195|SVH" specific Splicing Variant involved in Hepatocarcinogenesis Armadillo repeat containing 409 2007-01-26 2023-01-20 83787 ENSG00000170632 OTTHUMG00000157201 uc003vax.3 AY150853 NM_031905 "CCDS55145|CCDS55149|CCDS55146|CCDS5728|CCDS55147|CCDS55148" Q8N2F6 12839973 MGI:1914461 RGD:1305915 611864 HGNC:21706 "ENST00000323716.8|NM_031905.5" +HGNC:20730 ARMC9 armadillo repeat containing 9 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "FLJ12584|KIAA1868|ARM|KU-MEL-1" "Armadillo repeat containing|MicroRNA protein coding host genes" "409|1691" 2005-10-04 2023-01-20 80210 ENSG00000135931 OTTHUMG00000133229 uc002vrq.6 BC004514 NM_025139 "CCDS74666|CCDS2484|CCDS92970|CCDS92969" Q7Z3E5 11347906 MGI:1926045 RGD:1305615 617612 HGNC:20730 "ENST00000611582.5|NM_001352754.2" HGNC:20730 +HGNC:21706 ARMC10 armadillo repeat containing 10 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC3195|SVH" specific Splicing Variant involved in Hepatocarcinogenesis Armadillo repeat containing 409 2007-01-26 2023-01-20 83787 ENSG00000170632 OTTHUMG00000157201 uc003vax.3 AY150853 NM_031905 "CCDS5728|CCDS55146|CCDS55149|CCDS55145|CCDS55148|CCDS55147" Q8N2F6 12839973 MGI:1914461 RGD:1305915 611864 HGNC:21706 "ENST00000323716.8|NM_031905.5" HGNC:43646 ARMC10P1 armadillo repeat containing 10 pseudogene 1 pseudogene pseudogene Approved 3q11.2 03q11.2 2011-12-14 2011-12-14 389137 ENSG00000178660 OTTHUMG00000159019 NG_012229 HGNC:43646 -HGNC:21099 ARMC12 armadillo repeat containing 12 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 FLJ25390 C6orf81 chromosome 6 open reading frame 81 Armadillo repeat containing 409 2003-05-19 2011-12-14 2011-12-14 2023-01-20 221481 ENSG00000157343 OTTHUMG00000014577 uc003ola.5 AK058119 NM_145028 "CCDS69093|CCDS4809|CCDS69094" Q5T9G4 MGI:1914895 RGD:1306008 620377 HGNC:21099 "ENST00000373866.4|NM_001286574.2" +HGNC:21099 ARMC12 armadillo repeat containing 12 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 FLJ25390 C6orf81 chromosome 6 open reading frame 81 Armadillo repeat containing 409 2003-05-19 2011-12-14 2011-12-14 2023-01-20 221481 ENSG00000157343 OTTHUMG00000014577 uc003ola.5 AK058119 NM_145028 "CCDS4809|CCDS69094|CCDS69093" Q5T9G4 MGI:1914895 RGD:1306008 620377 HGNC:21099 "ENST00000373866.4|NM_001286574.2" HGNC:18073 ARMCX1 armadillo repeat containing X-linked 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "ALEX1|GASP7" Armadillo repeat containing 409 2004-05-10 2018-04-26 2023-01-20 51309 ENSG00000126947 OTTHUMG00000022033 uc004ehv.4 AB039670 NM_016608 CCDS14487 Q9P291 "11162520|16221301|22569362" MGI:1925498 RGD:1561629 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX1 300362 HGNC:18073 "ENST00000372829.8|NM_016608.2" HGNC:16869 ARMCX2 armadillo repeat containing X-linked 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "ALEX2|KIAA0512|GASP9" Armadillo repeat containing 409 2004-05-10 2018-04-26 2023-01-20 9823 ENSG00000184867 OTTHUMG00000022038 uc004eif.5 AB011084 NM_014782 CCDS14490 Q7L311 "9628581|11162520|16221301|22569362" MGI:1914666 RGD:1359132 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX2 300363 HGNC:16869 "ENST00000356824.9|NM_177949.4" HGNC:24065 ARMCX3 armadillo repeat containing X-linked 3 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "ALEX3|GASP6" Armadillo repeat containing 409 2004-05-10 2018-04-26 2023-01-20 51566 ENSG00000102401 OTTHUMG00000022035 uc004ehz.2 AY359079 NM_016607 CCDS14489 Q9UH62 "11162520|11042152|19304657|16221301|22569362" MGI:1918953 RGD:1549739 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX3 300364 HGNC:24065 "ENST00000471229.7|NM_177947.3" HGNC:41038 ARMCX3-AS1 ARMCX3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.1 Xq22.1 ARMCX3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100128574 ENSG00000228275 OTTHUMG00000022037 uc065aib.1 ARMCX3-AS1 HGNC:28615 ARMCX4 armadillo repeat containing X-linked 4 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "MGC40053|GASP4" CXorf35 "chromosome X open reading frame 35|armadillo repeat containing, X-linked 4 pseudogene" Armadillo repeat containing 409 2004-08-10 2018-04-26 2023-01-20 100131755 ENSG00000196440 OTTHUMG00000022030 uc031tkc.1 AK096955 NM_001256155 CCDS59170 Q5H9R4 "16221301|22569362" MGI:2147887 RGD:2325053 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX4 301046 HGNC:28615 "ENST00000423738.5|NM_001256155.3" HGNC:25772 ARMCX5 armadillo repeat containing X-linked 5 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "FLJ12969|GASP5" Armadillo repeat containing 409 2004-09-16 2018-04-26 2023-01-20 64860 ENSG00000125962 OTTHUMG00000022062 uc004ejg.4 NM_022838 CCDS14500 Q6P1M9 "16221301|22569362|35687106" MGI:2148026 RGD:7586448 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX5 301047 HGNC:25772 "ENST00000473968.7|NM_001168478.2" -HGNC:42000 ARMCX5-GPRASP2 ARMCX5-GPRASP2 readthrough other readthrough Approved Xq22.1 Xq22.1 2011-05-31 2015-08-04 100528062 ENSG00000271147 OTTHUMG00000022059 uc065ajt.1 NM_001199818.1 "MGI:1917487|MGI:2442071" HGNC:42000 +HGNC:42000 ARMCX5-GPRASP2 ARMCX5-GPRASP2 readthrough other readthrough Approved Xq22.1 Xq22.1 2011-05-31 2023-06-14 100528062 ENSG00000286237 OTTHUMG00000022059 uc065ajt.1 NM_001199818.1 "MGI:1917487|MGI:2442071" HGNC:42000 HGNC:26094 ARMCX6 armadillo repeat containing X-linked 6 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "FLJ20811|GASP10" Armadillo repeat containing 409 2004-09-16 2018-04-26 2023-01-20 54470 ENSG00000198960 OTTHUMG00000022034 uc004ehx.4 BC007677 NM_019007 CCDS14488 Q7L4S7 "16221301|22569362" MGI:2147993 RGD:1359303 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX6 301048 HGNC:26094 "ENST00000361910.9|NM_019007.4" HGNC:49917 ARMCX7P armadillo repeat containing X-linked 7, pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 "ARMCX6-ps|GASP10ps" 2014-03-21 2018-04-26 2018-04-26 653354 ENSG00000204072 OTTHUMG00000022036 NG_022684 "16221301|22569362" MGI:3648067 PGOHUM00000241910 HGNC:49917 HGNC:34345 ARMH1 armadillo like helical domain containing 1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "MGC33556|p40" "NCRNA00082|C1orf228" "non-protein coding RNA 82|chromosome 1 open reading frame 228" Armadillo like helical domain containing 1492 2008-09-02 2018-01-31 2019-02-21 2023-01-20 339541 ENSG00000198520 OTTHUMG00000007834 uc057fvb.1 "AL122004|AY254217|BC026115" NM_001145636 CCDS53311 Q6PIY5 12477932 MGI:2686507 RGD:1563714 HGNC:34345 "ENST00000535358.6|NM_001145636.2" @@ -1625,9 +1625,9 @@ HGNC:49394 ARMH2 armadillo like helical domain containing 2 protein-coding gene HGNC:25788 ARMH3 armadillo like helical domain containing 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 FLJ13114 C10orf76 chromosome 10 open reading frame 76 Armadillo like helical domain containing 1492 2004-02-17 2018-01-31 2019-02-21 2023-01-20 79591 ENSG00000120029 OTTHUMG00000018943 uc009xwy.2 AK023176 NM_024541 CCDS41563 Q5T2E6 "31519766|31829496" MGI:1918867 RGD:9299787 HGNC:25788 "ENST00000370033.9|NM_024541.3" HGNC:19846 ARMH4 armadillo like helical domain containing 4 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 UT2 upstream of mTORC2 C14orf37 chromosome 14 open reading frame 37 Armadillo like helical domain containing 1492 2002-11-27 2018-01-31 2019-02-21 2023-03-08 145407 ENSG00000139971 OTTHUMG00000171173 uc001xdc.4 NM_001001872 CCDS32089 Q86TY3 "25418727|26927669|36649229" MGI:1914669 RGD:1310110 HGNC:19846 "ENST00000267485.7|NM_001001872.4" HGNC:32685 ARMS2 age-related maculopathy susceptibility 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "LOC387715|ARMD8" 2007-01-04 2023-01-20 387715 ENSG00000254636 OTTHUMG00000048232 uc001lgi.4 BC066349 NM_001099667 CCDS53585 P0C7Q2 "16080115|16174643" 611313 236977 HGNC:32685 "ENST00000528446.1|NM_001099667.3" -HGNC:17872 ARMT1 acidic residue methyltransferase 1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 FLJ12910 Protein-glutamate O-methyltransferase C6orf211 chromosome 6 open reading frame 211 2003-08-26 2015-03-02 2015-03-02 2023-02-23 79624 ENSG00000146476 OTTHUMG00000015838 AJ420548 NM_024573 "CCDS69224|CCDS5233" Q9H993 "25732820|32682077" MGI:1920669 RGD:1305235 616332 HGNC:17872 "ENST00000367294.4|NM_024573.3" +HGNC:17872 ARMT1 acidic residue methyltransferase 1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 FLJ12910 Protein-glutamate O-methyltransferase C6orf211 chromosome 6 open reading frame 211 2003-08-26 2015-03-02 2015-03-02 2023-02-23 79624 ENSG00000146476 OTTHUMG00000015838 AJ420548 NM_024573 "CCDS5233|CCDS69224" Q9H993 "25732820|32682077" MGI:1920669 RGD:1305235 616332 HGNC:17872 "ENST00000367294.4|NM_024573.3" HGNC:54484 ARNILA androgen receptor negatively regulated lncRNA non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 AR negatively induced lncRNA Long non-coding RNAs with non-systematic symbols 1992 2019-08-14 2019-08-14 116435288 ENSG00000235072 29844570 -HGNC:700 ARNT aryl hydrocarbon receptor nuclear translocator protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "HIF-1beta|bHLHe2|ARNT1" hypoxia inducible factor 1 subunit beta "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1990-01-22 2023-05-03 405 ENSG00000143437 OTTHUMG00000035011 uc001evr.2 AF001307 NM_001197325 "CCDS970|CCDS971|CCDS65641|CCDS65642" P27540 MGI:88071 RGD:2153 ARNT 126110 HGNC:700 "ENST00000358595.10|NM_001668.4" +HGNC:700 ARNT aryl hydrocarbon receptor nuclear translocator protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "HIF-1beta|bHLHe2|ARNT1" hypoxia inducible factor 1 subunit beta "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1990-01-22 2023-05-03 405 ENSG00000143437 OTTHUMG00000035011 uc001evr.2 AF001307 NM_001197325 "CCDS65641|CCDS65642|CCDS970|CCDS971" P27540 MGI:88071 RGD:2153 ARNT 126110 HGNC:700 "ENST00000358595.10|NM_001668.4" HGNC:16876 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "KIAA0307|bHLHe1" "Basic helix-loop-helix proteins|MicroRNA protein coding host genes|PAS domain containing" "420|1691|2127" 2001-12-05 2015-11-24 2023-01-20 9915 ENSG00000172379 OTTHUMG00000165478 uc002bfr.4 AB002305 NM_014862 CCDS32307 Q9HBZ2 11247670 MGI:107188 RGD:2154 606036 376571 HGNC:16876 "ENST00000303329.9|NM_014862.4" HGNC:16876 HGNC:56077 ARNT2-DT ARNT2 divergent transcript non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 Divergent transcripts 1990 2021-12-15 2021-12-15 101929560 ENSG00000259495 NR_184067 HGNC:703 ARPC1A actin related protein 2/3 complex subunit 1A protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "SOP2Hs|SOP2L|Arc40" "actin binding protein (Schizosaccharomyces pombe sop2-like)|SOP2-like protein" "actin related protein 2/3 complex, subunit 1A (41 kD)|actin related protein 2/3 complex subunit 1A, 41kDa" "Actin related protein 2/3 complex subunits|WD repeat domain containing" "39|362" 1999-08-06 2015-11-05 2023-01-20 10552 ENSG00000241685 OTTHUMG00000154553 uc003upx.3 Y08999 NM_006409 CCDS5660 Q92747 "8978670|9230079" MGI:1928896 RGD:620834 604220 HGNC:703 "ENST00000262942.10|NM_006409.4" @@ -1646,27 +1646,27 @@ HGNC:39434 ARPC3P4 actin related protein 2/3 complex subunit 3 pseudogene 4 pseu HGNC:39435 ARPC3P5 actin related protein 2/3 complex subunit 3 pseudogene 5 pseudogene pseudogene Approved 6p22.3 06p22.3 2010-12-16 2015-11-04 2015-11-05 441131 ENSG00000214027 OTTHUMG00000014296 NG_022345 HGNC:39435 HGNC:707 ARPC4 actin related protein 2/3 complex subunit 4 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "p20-Arc|ARC20" "Arp2/3 protein complex subunit p20|actin related protein 2/3 complex, subunit 4 (20 kD)" "actin related protein 2/3 complex, subunit 4 (20 kD)|actin related protein 2/3 complex subunit 4, 20kDa" Actin related protein 2/3 complex subunits 39 1999-08-06 2015-11-05 2023-01-20 10093 ENSG00000241553 OTTHUMG00000133768 uc003bsz.3 AF019888 NM_001024959 "CCDS46743|CCDS56238|CCDS43047" P59998 "9230079|9359840" MGI:1915339 RGD:1310096 604226 HGNC:707 "ENST00000397261.8|NM_005718.5" HGNC:38830 ARPC4-TTLL3 ARPC4-TTLL3 readthrough other readthrough Approved 3p25.3 03p25.3 2011-02-21 2023-03-15 100526693 ENSG00000250151 OTTHUMG00000161408 uc003btd.5 NM_001198793.1 HGNC:38830 -HGNC:708 ARPC5 actin related protein 2/3 complex subunit 5 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "p16-Arc|ARC16|dJ127C7.3" Arp2/3 protein complex subunit p16 "actin related protein 2/3 complex, subunit 5 (16 kD)|actin related protein 2/3 complex subunit 5, 16kDa" Actin related protein 2/3 complex subunits 39 1999-08-06 2015-11-05 2023-01-20 10092 ENSG00000162704 OTTHUMG00000035326 uc057nwe.1 AF017807 NM_005717 "CCDS1357|CCDS58050" O15511 "9359840|9230079" MGI:1915021 RGD:1311791 604227 HGNC:708 "ENST00000359856.11|NM_005717.4" +HGNC:708 ARPC5 actin related protein 2/3 complex subunit 5 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "p16-Arc|ARC16|dJ127C7.3" Arp2/3 protein complex subunit p16 "actin related protein 2/3 complex, subunit 5 (16 kD)|actin related protein 2/3 complex subunit 5, 16kDa" Actin related protein 2/3 complex subunits 39 1999-08-06 2015-11-05 2023-01-20 10092 ENSG00000162704 OTTHUMG00000035326 uc057nwe.1 AF017807 NM_005717 "CCDS58050|CCDS1357" O15511 "9359840|9230079" MGI:1915021 RGD:1311791 604227 HGNC:708 "ENST00000359856.11|NM_005717.4" HGNC:23366 ARPC5L actin related protein 2/3 complex subunit 5 like protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "MGC3038|ARC16-2" actin related protein 2/3 complex subunit 5-like Actin related protein 2/3 complex subunits 39 2003-11-14 2016-06-09 2023-01-20 81873 ENSG00000136950 OTTHUMG00000020660 uc004boz.2 AF087842 NM_030978 CCDS6859 Q9BPX5 MGI:1921442 RGD:1308867 HGNC:23366 "ENST00000353214.6|NM_030978.3" -HGNC:28782 ARPIN actin related protein 2/3 complex inhibitor protein-coding gene gene with protein product Approved 15q26.1 15q26.1 MGC61550 C15orf38 "chromosome 15 open reading frame 38|actin-related protein 2/3 complex inhibitor" 2005-10-24 2014-06-24 2017-04-28 2023-01-20 348110 ENSG00000242498 OTTHUMG00000154515 BC053602 NM_182616 "CCDS42080|CCDS73780" Q7Z6K5 24132237 MGI:1917670 RGD:1311021 615543 HGNC:28782 "ENST00000357484.10|NM_182616.4" +HGNC:28782 ARPIN actin related protein 2/3 complex inhibitor protein-coding gene gene with protein product Approved 15q26.1 15q26.1 MGC61550 C15orf38 "chromosome 15 open reading frame 38|actin-related protein 2/3 complex inhibitor" 2005-10-24 2014-06-24 2017-04-28 2023-01-20 348110 ENSG00000242498 OTTHUMG00000154515 BC053602 NM_182616 "CCDS73780|CCDS42080" Q7Z6K5 24132237 MGI:1917670 RGD:1311021 615543 HGNC:28782 "ENST00000357484.10|NM_182616.4" HGNC:38824 ARPIN-AP3S2 ARPIN-AP3S2 readthrough other readthrough Approved 15q26.1 15q26.1 C15orf38-AP3S2 C15orf38-AP3S2 readthrough 2011-02-21 2018-11-26 2018-11-26 2023-03-15 100526783 ENSG00000250021 OTTHUMG00000162161 uc002bos.5 NM_001199058.1 MGI:1917670 HGNC:38824 -HGNC:16967 ARPP19 cAMP regulated phosphoprotein 19 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "ARPP-19|ARPP-16|ARPP16|ENSAL" endosulfine alpha-like cAMP-regulated phosphoprotein, 19kDa 2009-04-20 2016-06-01 2023-01-20 10776 ENSG00000128989 OTTHUMG00000172677 uc002ace.2 AF084555 NM_006628 "CCDS32242|CCDS81883|CCDS76757" P56211 "11279279|8687439" MGI:1891691 RGD:71054 605487 HGNC:16967 "ENST00000249822.9|NM_006628.6" +HGNC:16967 ARPP19 cAMP regulated phosphoprotein 19 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "ARPP-19|ARPP-16|ARPP16|ENSAL" endosulfine alpha-like cAMP-regulated phosphoprotein, 19kDa 2009-04-20 2016-06-01 2023-01-20 10776 ENSG00000128989 OTTHUMG00000172677 uc002ace.2 AF084555 NM_006628 "CCDS76757|CCDS32242|CCDS81883" P56211 "11279279|8687439" MGI:1891691 RGD:71054 605487 HGNC:16967 "ENST00000249822.9|NM_006628.6" HGNC:54698 ARPP19P1 ARPP19 pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 2019-11-28 2020-01-21 646227 ENSG00000231228 NG_012241 HGNC:54699 ARPP19P2 ARPP19 pseudogene 2 pseudogene pseudogene Approved 2q11.2 02q11.2 2019-11-28 2020-01-21 643896 ENSG00000204637 NG_012240 -HGNC:16968 ARPP21 cAMP regulated phosphoprotein 21 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "ARPP-21|TARPP|R3HDM3" R3H domain containing 3 cAMP-regulated phosphoprotein, 21kDa MicroRNA protein coding host genes 1691 2010-08-12 2016-06-01 2023-01-20 10777 ENSG00000172995 OTTHUMG00000130795 uc003cgb.4 AA733082 NM_198399 "CCDS43063|CCDS2661|CCDS58824|CCDS58823|CCDS93238" Q9UBL0 8120638 MGI:107562 RGD:1593239 605488 HGNC:16968 "ENST00000684406.1|NM_001385562.1" -HGNC:40785 ARPP21-AS1 ARPP21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.3 03p22.3 ARPP21 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874098 ENSG00000230830 OTTHUMG00000156606 uc062hzu.1 ARPP21-AS1 +HGNC:16968 ARPP21 cAMP regulated phosphoprotein 21 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "ARPP-21|TARPP|R3HDM3" R3H domain containing 3 cAMP-regulated phosphoprotein, 21kDa MicroRNA protein coding host genes 1691 2010-08-12 2016-06-01 2023-01-20 10777 ENSG00000172995 OTTHUMG00000130795 uc003cgb.4 AA733082 NM_198399 "CCDS58823|CCDS2661|CCDS93238|CCDS58824|CCDS43063" Q9UBL0 8120638 MGI:107562 RGD:1593239 605488 HGNC:16968 "ENST00000684406.1|NM_001385562.1" +HGNC:40785 ARPP21-AS1 ARPP21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.3 03p22.3 ARPP21 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874098 ENSG00000230830 OTTHUMG00000156606 uc062hzu.1 NR_046679 ARPP21-AS1 HGNC:710 ARR3 arrestin 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 ARRX "arrestin 4|cone arrestin|arrestin-C" "arrestin 3, retinal (X-arrestin)|arrestin 3 retinal (X-arrestin)" Classical arrestins 1312 1994-08-04 2016-07-08 2023-01-20 407 ENSG00000120500 OTTHUMG00000021768 uc004dyb.3 NM_004312 CCDS14399 P36575 8224247 MGI:2159617 RGD:621385 301770 HGNC:710 "ENST00000307959.9|NM_004312.3" HGNC:710 -HGNC:711 ARRB1 arrestin beta 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 arrestin 2 ARR1 arrestin, beta 1 "Classical arrestins|MicroRNA protein coding host genes" "1312|1691" 1994-01-10 2016-03-30 2023-01-20 408 ENSG00000137486 OTTHUMG00000165444 uc001owf.3 BC003636 NM_004041 "CCDS44684|CCDS31640" P49407 8486659 MGI:99473 RGD:2156 107940 HGNC:711 "ENST00000420843.7|NM_004041.5" -HGNC:712 ARRB2 arrestin beta 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "BARR2|DKFZp686L0365" arrestin 3 ARR2 arrestin, beta 2 Classical arrestins 1312 1994-01-10 2016-03-30 2023-01-20 409 ENSG00000141480 OTTHUMG00000090759 uc002fyj.4 NM_004313 "CCDS58504|CCDS58505|CCDS11050|CCDS11051|CCDS82039|CCDS59276" P32121 7695743 MGI:99474 RGD:2157 107941 HGNC:712 "ENST00000269260.7|NM_004313.4" +HGNC:711 ARRB1 arrestin beta 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 arrestin 2 ARR1 arrestin, beta 1 "Classical arrestins|MicroRNA protein coding host genes" "1312|1691" 1994-01-10 2016-03-30 2023-01-20 408 ENSG00000137486 OTTHUMG00000165444 uc001owf.3 BC003636 NM_004041 "CCDS31640|CCDS44684" P49407 8486659 MGI:99473 RGD:2156 107940 HGNC:711 "ENST00000420843.7|NM_004041.5" +HGNC:712 ARRB2 arrestin beta 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "BARR2|DKFZp686L0365" arrestin 3 ARR2 arrestin, beta 2 Classical arrestins 1312 1994-01-10 2016-03-30 2023-01-20 409 ENSG00000141480 OTTHUMG00000090759 uc002fyj.4 NM_004313 "CCDS58505|CCDS58504|CCDS59276|CCDS82039|CCDS11050|CCDS11051" P32121 7695743 MGI:99474 RGD:2157 107941 HGNC:712 "ENST00000269260.7|NM_004313.4" HGNC:28633 ARRDC1 arrestin domain containing 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC40555 alpha-arrestin 1 Alpha arrestins 1311 2004-02-09 2023-01-20 92714 ENSG00000197070 OTTHUMG00000020993 uc004cns.4 AJ420420 NM_152285 CCDS7049 Q8N5I2 23886940 MGI:2446136 RGD:1309961 619768 HGNC:28633 "ENST00000371421.9|NM_152285.4" HGNC:23395 ARRDC1-AS1 ARRDC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 C9orf37 chromosome 9 open reading frame 37 Antisense RNAs 1987 2003-11-14 2014-07-17 2014-07-17 2023-03-15 85026 ENSG00000203993 OTTHUMG00000020988 AF267857 NR_122035 Q9H2J1 ARRDC1-AS1 HGNC:23395 -HGNC:25225 ARRDC2 arrestin domain containing 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "CLONE24945|PP2703" Alpha arrestins 1311 2004-02-10 2023-01-20 27106 ENSG00000105643 OTTHUMG00000183483 uc002nhv.3 NM_015683 "CCDS12370|CCDS32956" Q8TBH0 "8619474|9110174" MGI:1918057 RGD:1309659 HGNC:25225 "ENST00000222250.5|NM_015683.2" +HGNC:25225 ARRDC2 arrestin domain containing 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "CLONE24945|PP2703" Alpha arrestins 1311 2004-02-10 2023-01-20 27106 ENSG00000105643 OTTHUMG00000183483 uc002nhv.3 NM_015683 "CCDS32956|CCDS12370" Q8TBH0 "8619474|9110174" MGI:1918057 RGD:1309659 HGNC:25225 "ENST00000222250.5|NM_015683.2" HGNC:29263 ARRDC3 arrestin domain containing 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "KIAA1376|TLIMP" "alpha-arrestin 3|TBP-2-like inducible membrane protein" Alpha arrestins 1311 2004-02-11 2023-01-20 57561 ENSG00000113369 OTTHUMG00000162616 uc003kjz.3 AB037797 NM_020801 CCDS34202 Q96B67 "10718198|19605364" MGI:2145242 RGD:1359478 612464 HGNC:29263 "ENST00000265138.4|NM_020801.4" HGNC:44145 ARRDC3-AS1 ARRDC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 ARRDC3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2016-11-24 100129716 ENSG00000281357 OTTHUMG00000189546 uc003kka.5 BC043415 NR_027435 ARRDC3-AS1 HGNC:44145 HGNC:28087 ARRDC4 arrestin domain containing 4 protein-coding gene gene with protein product Approved 15q26.2 15q26.2 FLJ36045 Alpha arrestins 1311 2004-02-11 2023-01-20 91947 ENSG00000140450 OTTHUMG00000149849 uc010bom.4 BC028704 NM_183376 CCDS10377 Q8NCT1 28594402 MGI:1913662 RGD:1311763 619788 HGNC:28087 "ENST00000268042.7|NM_183376.3" HGNC:31407 ARRDC5 arrestin domain containing 5 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Alpha arrestins 1311 2004-04-14 2023-01-20 645432 ENSG00000205784 OTTHUMG00000180250 uc002mbm.3 NM_001080523 CCDS45929 A6NEK1 12886014 MGI:1924170 RGD:1591748 HGNC:31407 "ENST00000650722.2|NM_001080523.3" -HGNC:713 ARSA arylsulfatase A protein-coding gene gene with protein product Approved 22q13.33 22q13.33 ASA metachromatic leucodystrophy Sulfatases 410 1986-01-01 2023-01-20 410 ENSG00000100299 OTTHUMG00000150180 uc021wse.2 X52150 NM_000487 "CCDS14100|CCDS46736" P15289 15772092 MGI:88077 RGD:1310381 607574 121427 3.1.6.8 HGNC:713 "ENST00000216124.10|NM_000487.6" HGNC:713 -HGNC:714 ARSB arylsulfatase B protein-coding gene gene with protein product Approved 5q14.1 05q14.1 ASB Sulfatases 410 1986-01-01 2023-01-20 411 ENSG00000113273 OTTHUMG00000108129 uc003kfq.5 M32373 NM_000046 "CCDS43334|CCDS4043" P15848 2303452 MGI:88075 RGD:2158 611542 121429 3.1.6.1 HGNC:714 "ENST00000264914.10|NM_000046.5" HGNC:714 +HGNC:713 ARSA arylsulfatase A protein-coding gene gene with protein product Approved 22q13.33 22q13.33 ASA metachromatic leucodystrophy Sulfatases 410 1986-01-01 2023-01-20 410 ENSG00000100299 OTTHUMG00000150180 uc021wse.2 X52150 NM_000487 "CCDS46736|CCDS14100" P15289 15772092 MGI:88077 RGD:1310381 607574 121427 3.1.6.8 HGNC:713 "ENST00000216124.10|NM_000487.6" HGNC:713 +HGNC:714 ARSB arylsulfatase B protein-coding gene gene with protein product Approved 5q14.1 05q14.1 ASB Sulfatases 410 1986-01-01 2023-01-20 411 ENSG00000113273 OTTHUMG00000108129 uc003kfq.5 M32373 NM_000046 "CCDS4043|CCDS43334" P15848 2303452 MGI:88075 RGD:2158 611542 121429 3.1.6.1 HGNC:714 "ENST00000264914.10|NM_000046.5" HGNC:714 HGNC:716 ARSC2 arylsulfatase C, isozyme F other unknown Approved X X ARSC Sulfatases 410 1988-08-31 2013-02-14 413 "1690506|6586638" 301780 HGNC:717 ARSD arylsulfatase D protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 ASD Sulfatases 410 1995-04-26 2023-03-15 414 ENSG00000006756 OTTHUMG00000021077 uc004cqy.4 X83572 NM_001669 CCDS35196 P51689 7720070 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARSD 300002 HGNC:717 "ENST00000381154.6|NM_001669.4" HGNC:40085 ARSD-AS1 ARSD antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.33 Xp22.33 ARSD antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100506356 ENSG00000229851 OTTHUMG00000021076 uc064xvj.1 NR_144459 ARSD-AS1 HGNC:40085 @@ -1678,39 +1678,39 @@ HGNC:32488 ARSH arylsulfatase family member H protein-coding gene gene with prot HGNC:32521 ARSI arylsulfatase family member I protein-coding gene gene with protein product Approved 5q32 05q32 "FLJ16069|SPG66" "arylsulfatase I|arylsulfatase family, member I" Sulfatases 410 2006-02-09 2015-11-18 2023-01-20 340075 ENSG00000183876 OTTHUMG00000163479 uc003lrv.3 AY875937 NM_001012301 CCDS34275 Q5FYB1 "16174644|24482476" MGI:2670959 RGD:1310242 610009 403370 3.1.6.- HGNC:32521 "ENST00000328668.8|NM_001012301.4" HGNC:32521 HGNC:26286 ARSJ arylsulfatase family member J protein-coding gene gene with protein product Approved 4q26 04q26 FLJ23548 "arylsulfatase J|arylsulfatase family, member J" Sulfatases 410 2006-02-09 2015-11-18 2023-01-20 79642 ENSG00000180801 OTTHUMG00000161067 uc003ibq.2 NM_024590 CCDS43264 Q5FYB0 "12975309|16174644" MGI:2443513 RGD:1307640 610010 HGNC:26286 "ENST00000315366.8|NM_024590.4" HGNC:25239 ARSK arylsulfatase family member K protein-coding gene gene with protein product Approved 5q15 05q15 "DKFZp313G1735|TSULF" "arylsulfatase K|arylsulfatase family, member K" Sulfatases 410 2006-02-09 2015-11-18 2023-01-20 153642 ENSG00000164291 OTTHUMG00000121166 uc003kld.4 NM_198150 CCDS4073 Q6UWY0 "12975309|16174644" MGI:1924291 RGD:1310182 610011 3.1.6.- HGNC:25239 "ENST00000380009.9|NM_198150.3" -HGNC:719 ARSL arylsulfatase L protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 chondrodysplasia punctata 1 "CDPX|CDPX1|ARSE" "arylsulfatase E (chondrodysplasia punctata 1)|arylsulfatase E" Sulfatases 410 1995-04-26 2019-08-07 2019-08-07 2023-01-20 415 ENSG00000157399 OTTHUMG00000137358 uc004crc.5 X83573 NM_000047 "CCDS75948|CCDS75949|CCDS14122" P51690 7720070 RGD:1304917 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARSE 300180 121431 HGNC:719 "ENST00000381134.9|NM_000047.3" HGNC:719 +HGNC:719 ARSL arylsulfatase L protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 chondrodysplasia punctata 1 "CDPX|CDPX1|ARSE" "arylsulfatase E (chondrodysplasia punctata 1)|arylsulfatase E" Sulfatases 410 1995-04-26 2019-08-07 2019-08-07 2023-01-20 415 ENSG00000157399 OTTHUMG00000137358 uc004crc.5 X83573 NM_000047 "CCDS14122|CCDS75949|CCDS75948" P51690 7720070 RGD:1304917 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARSE 300180 121431 HGNC:719 "ENST00000381134.9|NM_000047.3" HGNC:719 HGNC:720 ARSLP1 arylsulfatase L pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 "ARSEP|ARSEP1" "arylsulfatase E pseudogene|arylsulfatase E pseudogene 1" 1999-05-17 2019-08-08 2019-08-08 2019-08-08 10033 ENSG00000224060 OTTHUMG00000036379 NG_000880 8845834 PGOHUM00000233954 HGNC:720 HGNC:723 ART1 ADP-ribosyltransferase 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "ART2|CD296|ARTC1" "CD molecules|ADP-ribosyltransferase family" "471|2030" 1997-01-22 2023-01-20 417 ENSG00000129744 OTTHUMG00000011845 uc001lye.1 S74683 NM_004314 CCDS7744 P52961 8812442 MGI:107511 RGD:1304591 601625 CD296 HGNC:723 "ENST00000250693.2|NM_004314.3" HGNC:51489 ART2BP ADP-ribosyltransferase 2B, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 ARTC2BP ADP-ribosyltransferase family 2030 2015-01-16 2022-01-28 106481723 ENSG00000237408 OTTHUMG00000154241 NG_043401 MGI:107545 HGNC:51489 HGNC:724 ART2P ADP-ribosyltransferase 2, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 "ART1P|ARTC2AP" RT6 ADP-ribosyltransferase 2 pseudogene (RT6 antigen homolog, rat) ADP-ribosyltransferase family 2030 1993-06-08 2013-09-12 2022-01-28 418 ENSG00000238048 OTTHUMG00000154242 X65050 NG_001076 8812442 MGI:107546 PGOHUM00000291030 HGNC:724 -HGNC:725 ART3 ADP-ribosyltransferase 3 (inactive) protein-coding gene gene with protein product Approved 4q21.1 04q21.1 ARTC3 ADP-ribosyltransferase 3 ADP-ribosyltransferase family 2030 1998-05-11 2020-07-13 2023-01-20 419 ENSG00000156219 OTTHUMG00000130110 uc003hjn.4 X95827 NM_001179 "CCDS93546|CCDS47079|CCDS3575|CCDS47080" Q13508 "9119374|12070318" MGI:1202729 RGD:628833 603086 HGNC:725 "ENST00000355810.9|NM_001130016.3" +HGNC:725 ART3 ADP-ribosyltransferase 3 (inactive) protein-coding gene gene with protein product Approved 4q21.1 04q21.1 ARTC3 ADP-ribosyltransferase 3 ADP-ribosyltransferase family 2030 1998-05-11 2020-07-13 2023-01-20 419 ENSG00000156219 OTTHUMG00000130110 uc003hjn.4 X95827 NM_001179 "CCDS47079|CCDS47080|CCDS93546|CCDS3575" Q13508 "9119374|12070318" MGI:1202729 RGD:628833 603086 HGNC:725 "ENST00000355810.9|NM_001130016.3" HGNC:726 ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "DOK1|CD297|ARTC4" NAD(+)--protein-arginine ADP-ribosyltransferase 4 DO "Dombrock blood group|ADP-ribosyltransferase 4 (DO blood group)|ADP-ribosyltransferase 4|ADP-ribosyltransferase 4 (Dombrock blood group)" "Blood group antigens|CD molecules|ADP-ribosyltransferase family" "454|471|2030" 1998-05-11 2006-01-12 2020-07-13 2023-01-20 420 ENSG00000111339 OTTHUMG00000168738 uc001rcl.2 X95826 NM_021071 CCDS8668 Q93070 9119374 MGI:1202710 RGD:1306456 LRG_807|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_807.xml 110600 CD297 2.4.2.31 HGNC:726 "ENST00000228936.6|NM_021071.4" HGNC:24049 ART5 ADP-ribosyltransferase 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 ARTC5 ADP-ribosyltransferase family 2030 2004-11-30 2023-01-20 116969 ENSG00000167311 OTTHUMG00000011842 uc001lyc.2 Y16835 NM_053017 "CCDS7743|CCDS73242" Q96L15 "11587854|10448534" MGI:107948 RGD:628834 610625 HGNC:24049 "ENST00000397068.8|NM_053017.5" -HGNC:727 ARTN artemin protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "NBN|EVN|ENOVIN" "neublastin|neurotrophic factor" GDNF family ligands 1586 1999-01-22 2023-03-15 9048 ENSG00000117407 OTTHUMG00000007705 uc001ckv.4 AF109401 NM_057090 "CCDS501|CCDS502" Q5T4W7 9883723 MGI:1333791 RGD:621427 603886 ligandId:4871 HGNC:727 "ENST00000372359.10|NM_057091.3" +HGNC:727 ARTN artemin protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "NBN|EVN|ENOVIN" "neublastin|neurotrophic factor" GDNF family ligands 1586 1999-01-22 2023-03-15 9048 ENSG00000117407 OTTHUMG00000007705 uc001ckv.4 AF109401 NM_057090 "CCDS502|CCDS501" Q5T4W7 9883723 MGI:1333791 RGD:621427 603886 ligandId:4871 HGNC:727 "ENST00000372359.10|NM_057091.3" HGNC:29561 ARV1 ARV1 homolog, fatty acid homeostasis modulator protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "ARV1 homolog (yeast)|ARV1 homolog (S. cerevisiae)" 2004-11-17 2015-09-25 2023-01-20 64801 ENSG00000173409 OTTHUMG00000037837 uc001huh.4 AF271780 NM_022786 CCDS1589 Q9H2C2 "11063737|12145310|20663892" MGI:1916115 RGD:1310264 611647 HGNC:29561 "ENST00000310256.7|NM_022786.3" HGNC:29561 -HGNC:728 ARVCF ARVCF delta catenin family member protein-coding gene gene with protein product Approved 22q11.21 22q11.21 armadillo repeat gene deleted in velocardiofacial syndrome "Armadillo repeat containing|Armadillo like helical domain containing|p120 catenin family" "409|1492|1539" 1996-10-11 2019-01-22 2023-01-20 421 ENSG00000099889 OTTHUMG00000030426 uc002zqz.4 NM_001670 "CCDS93120|CCDS13771" O00192 "9126485|15456900|24644279" MGI:109620 RGD:1306655 602269 121435 HGNC:728 "ENST00000263207.8|NM_001670.3" +HGNC:728 ARVCF ARVCF delta catenin family member protein-coding gene gene with protein product Approved 22q11.21 22q11.21 armadillo repeat gene deleted in velocardiofacial syndrome "Armadillo repeat containing|Armadillo like helical domain containing|p120 catenin family" "409|1492|1539" 1996-10-11 2019-01-22 2023-01-20 421 ENSG00000099889 OTTHUMG00000030426 uc002zqz.4 NM_001670 "CCDS13771|CCDS93120" O00192 "9126485|15456900|24644279" MGI:109620 RGD:1306655 602269 121435 HGNC:728 "ENST00000263207.8|NM_001670.3" HGNC:18060 ARX aristaless related homeobox protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 "ISSX|CT121|EIEE1" cancer/testis antigen 121 "MRXS1|PRTS|MRX76|MRX54|MRX43|MRX36|MRX29|MRX32|MRX33|MRX38|MRX87" "mental retardation, X-linked 54|mental retardation, X-linked 43|mental retardation, X-linked 36|mental retardation, X-linked 29|mental retardation, X-linked 32|mental retardation, X-linked 33|mental retardation, X-linked 38|mental retardation, X-linked 87|mental retardation, X-linked 76" PRD class homeoboxes and pseudogenes 521 2002-02-11 2023-01-20 170302 ENSG00000004848 OTTHUMG00000021275 uc004dbp.5 AY038071 NM_139058 CCDS14215 Q96QS3 "11889467|15850492|17480217" MGI:1097716 RGD:1562672 300382 8573 121437 HGNC:18060 "ENST00000379044.5|NM_139058.3" HGNC:18060 HGNC:17452 AS3MT arsenite methyltransferase protein-coding gene gene with protein product Approved 10q24.32 10q24.32 CYT19 arsenic (+3 oxidation state) methyltransferase 7BS small molecule methyltransferases 2063 2004-06-25 2014-05-09 2023-01-20 57412 ENSG00000214435 OTTHUMG00000018972 uc001kwk.4 AF226730 NM_020682 CCDS41567 Q9HBK9 11790780 MGI:1929882 RGD:621325 611806 2.1.1.137 HGNC:17452 "ENST00000369880.8|NM_020682.4" -HGNC:735 ASAH1 N-acylsphingosine amidohydrolase 1 protein-coding gene gene with protein product Approved 8p22 08p22 "AC|PHP32|FLJ21558|ACDase" "acylsphingosine deacylase|acid ceramidase" ASAH N-acylsphingosine amidohydrolase (acid ceramidase) 1997-08-22 2002-09-13 2016-06-21 2023-01-20 427 ENSG00000104763 OTTHUMG00000096997 uc003wyl.3 U70063 NM_004315 "CCDS87583|CCDS47813|CCDS6005|CCDS6006" Q13510 "8955159|10610716" MGI:1277124 RGD:621568 613468 121449 C89.001 objectId:2491 3.5.1.23 HGNC:735 "ENST00000637790.2|NM_177924.5" HGNC:735 +HGNC:735 ASAH1 N-acylsphingosine amidohydrolase 1 protein-coding gene gene with protein product Approved 8p22 08p22 "AC|PHP32|FLJ21558|ACDase" "acylsphingosine deacylase|acid ceramidase" ASAH N-acylsphingosine amidohydrolase (acid ceramidase) 1997-08-22 2002-09-13 2016-06-21 2023-01-20 427 ENSG00000104763 OTTHUMG00000096997 uc003wyl.3 U70063 NM_004315 "CCDS6006|CCDS87583|CCDS47813|CCDS6005" Q13510 "8955159|10610716" MGI:1277124 RGD:621568 613468 121449 C89.001 objectId:2491 3.5.1.23 HGNC:735 "ENST00000637790.2|NM_177924.5" HGNC:735 HGNC:55603 ASAH1-AS1 ASAH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p22 08p22 Antisense RNAs 1987 2021-06-07 2021-06-07 101929066 ENSG00000245281 NR_125429 HGNC:18860 ASAH2 N-acylsphingosine amidohydrolase 2 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "neutral ceramidase|non-lysosomal ceramidase" N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 2002-07-05 2016-06-21 2023-03-15 56624 ENSG00000188611 OTTHUMG00000018223 uc001jjd.4 AF250847 NM_019893 CCDS7239 Q9NR71 10781606 MGI:1859310 RGD:69410 611202 objectId:2492 HGNC:18860 "ENST00000682911.1|NM_019893.4" -HGNC:23456 ASAH2B N-acylsphingosine amidohydrolase 2B protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "bA449O16.3|ASAH2L|bA98I6.3" ASAH2C "N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C|N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B" 2004-06-25 2016-06-21 2023-01-20 653308 ENSG00000204147 OTTHUMG00000018239 uc001jjg.5 BI553338 NM_001079516 "CCDS81465|CCDS31203" P0C7U1 17334805 MGI:1859310 610987 objectId:2493 HGNC:23456 "ENST00000647317.2|NM_001321958.2" -HGNC:2720 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 protein-coding gene gene with protein product Approved 8q24.21-q24.22 08q24.21-q24.22 "PAP|KIAA1249|ZG14P|CENTB4" centaurin, beta 4 DDEF1 development and differentiation enhancing factor 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 1999-08-13 2008-09-22 2008-09-22 2023-01-20 50807 ENSG00000153317 OTTHUMG00000164772 uc003yta.3 AB033075 NM_018482 "CCDS6362|CCDS75788" Q9ULH1 "9819391|25774636" MGI:1342335 RGD:1307379 605953 HGNC:2720 "ENST00000518721.6|NM_018482.4" +HGNC:23456 ASAH2B N-acylsphingosine amidohydrolase 2B protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "bA449O16.3|ASAH2L|bA98I6.3" ASAH2C "N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C|N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B" 2004-06-25 2016-06-21 2023-01-20 653308 ENSG00000204147 OTTHUMG00000018239 uc001jjg.5 BI553338 NM_001079516 "CCDS31203|CCDS81465" P0C7U1 17334805 MGI:1859310 610987 objectId:2493 HGNC:23456 "ENST00000647317.2|NM_001321958.2" +HGNC:2720 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 protein-coding gene gene with protein product Approved 8q24.21-q24.22 08q24.21-q24.22 "PAP|KIAA1249|ZG14P|CENTB4" centaurin, beta 4 DDEF1 development and differentiation enhancing factor 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 1999-08-13 2008-09-22 2008-09-22 2023-01-20 50807 ENSG00000153317 OTTHUMG00000164772 uc003yta.3 AB033075 NM_018482 "CCDS75788|CCDS6362" Q9ULH1 "9819391|25774636" MGI:1342335 RGD:1307379 605953 HGNC:2720 "ENST00000518721.6|NM_018482.4" HGNC:24998 ASAP1-IT1 ASAP1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "HSPC054|NCRNA00050|ASAP1IT|ASAP1-IT" "non-protein coding RNA 50|ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 intronic transcript 1 (non-protein coding)" DDEF1IT1 "DDEF1 intronic transcript 1|DDEF1 intronic transcript 1 (non-protein coding)|ASAP1 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2005-09-05 2011-03-23 2015-02-25 2017-09-21 29065 AF161539 NR_002765 "11042152|27667152|28895409" ASAP1-IT1 HGNC:24998 HGNC:48917 ASAP1-IT2 ASAP1 intronic transcript 2 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 ASAP1 intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2013-07-05 2015-02-25 2016-11-24 100507117 ENSG00000280543 OTTHUMG00000189586 NR_045385 ASAP1-IT2 HGNC:48917 HGNC:2721 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "KIAA0400|PAP|SHAG1|CENTB3" centaurin, beta 3 DDEF2 development and differentiation enhancing factor 2 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 1999-08-13 2008-09-22 2008-09-22 2023-01-20 8853 ENSG00000151693 OTTHUMG00000117485 uc002qzh.3 AB007860 NM_003887 "CCDS1661|CCDS46224" O43150 "10022920|9455477" MGI:2685438 RGD:1305263 603817 HGNC:2721 "ENST00000281419.8|NM_003887.3" -HGNC:14987 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "FLJ20199|UPLC1|CENTB6" centaurin, beta 6 DDEFL1 development and differentiation enhancing factor-like 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-03-27 2008-09-22 2008-10-09 2023-01-20 55616 ENSG00000088280 OTTHUMG00000003234 uc001bha.3 AK000206 NM_017707 "CCDS44087|CCDS235" Q8TDY4 14654939 MGI:2684986 RGD:1593929 616594 HGNC:14987 "ENST00000336689.8|NM_017707.4" -HGNC:16011 ASB1 ankyrin repeat and SOCS box containing 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 ASB-1 ankyrin repeat and SOCS box-containing 1 Ankyrin repeat domain containing 403 2001-06-29 2011-01-25 2023-01-20 51665 ENSG00000065802 OTTHUMG00000152866 uc002vyg.4 AF156777 NM_001040445 "CCDS82582|CCDS33416" Q9Y576 MGI:1929735 RGD:1310760 605758 HGNC:16011 "ENST00000264607.9|NM_001040445.3" -HGNC:16012 ASB2 ankyrin repeat and SOCS box containing 2 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 ASB-2 ankyrin repeat and SOCS box-containing 2 "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2001-06-29 2011-01-25 2023-01-20 51676 ENSG00000100628 OTTHUMG00000171298 uc001ycc.3 AF159164 NM_001202429 "CCDS55940|CCDS9915" Q96Q27 MGI:1929743 RGD:1306414 605759 HGNC:16012 "ENST00000555019.6|NM_001202429.2" +HGNC:14987 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "FLJ20199|UPLC1|CENTB6" centaurin, beta 6 DDEFL1 development and differentiation enhancing factor-like 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-03-27 2008-09-22 2008-10-09 2023-01-20 55616 ENSG00000088280 OTTHUMG00000003234 uc001bha.3 AK000206 NM_017707 "CCDS235|CCDS44087" Q8TDY4 14654939 MGI:2684986 RGD:1593929 616594 HGNC:14987 "ENST00000336689.8|NM_017707.4" +HGNC:16011 ASB1 ankyrin repeat and SOCS box containing 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 ASB-1 ankyrin repeat and SOCS box-containing 1 Ankyrin repeat domain containing 403 2001-06-29 2011-01-25 2023-01-20 51665 ENSG00000065802 OTTHUMG00000152866 uc002vyg.4 AF156777 NM_001040445 "CCDS33416|CCDS82582" Q9Y576 MGI:1929735 RGD:1310760 605758 HGNC:16011 "ENST00000264607.9|NM_001040445.3" +HGNC:16012 ASB2 ankyrin repeat and SOCS box containing 2 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 ASB-2 ankyrin repeat and SOCS box-containing 2 "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2001-06-29 2011-01-25 2023-01-20 51676 ENSG00000100628 OTTHUMG00000171298 uc001ycc.3 AF159164 NM_001202429 "CCDS9915|CCDS55940" Q96Q27 MGI:1929743 RGD:1306414 605759 HGNC:16012 "ENST00000555019.6|NM_001202429.2" HGNC:16013 ASB3 ankyrin repeat and SOCS box containing 3 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 ASB-3 ankyrin repeat and SOCS box-containing 3 Ankyrin repeat domain containing 403 2001-06-29 2011-01-25 2023-01-20 51130 ENSG00000115239 OTTHUMG00000184778 uc002rxg.3 AK000985 NM_016115 "CCDS1846|CCDS1847" Q9Y575 15899873 MGI:1929749 RGD:1308462 605760 HGNC:16013 "ENST00000263634.8|NM_016115.5" HGNC:16009 ASB4 ankyrin repeat and SOCS box containing 4 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 ASB-4 ankyrin repeat and SOCS box-containing 4 Ankyrin repeat domain containing 403 2001-06-29 2011-01-25 2023-01-20 51666 ENSG00000005981 OTTHUMG00000153960 uc011kij.3 AF156779 NM_016116 "CCDS5641|CCDS5642" Q9Y574 MGI:1929751 RGD:1563114 605761 HGNC:16009 "ENST00000325885.6|NM_016116.3" -HGNC:17180 ASB5 ankyrin repeat and SOCS box containing 5 protein-coding gene gene with protein product Approved 4q34.2 04q34.2 ankyrin repeat and SOCS box-containing 5 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 140458 ENSG00000164122 OTTHUMG00000160793 uc003iuq.3 AY057053 NM_001410863 "CCDS3827|CCDS93672" Q8WWX0 MGI:1923544 RGD:1565973 615050 HGNC:17180 "ENST00000296525.7|NM_080874.4" -HGNC:17181 ASB6 ankyrin repeat and SOCS box containing 6 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 ankyrin repeat and SOCS box-containing 6 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 140459 ENSG00000148331 OTTHUMG00000020787 uc004byf.3 NM_017873 "CCDS6925|CCDS6924|CCDS75919" Q9NWX5 MGI:1919573 RGD:1308445 615051 HGNC:17181 "ENST00000277458.5|NM_017873.4" +HGNC:17180 ASB5 ankyrin repeat and SOCS box containing 5 protein-coding gene gene with protein product Approved 4q34.2 04q34.2 ankyrin repeat and SOCS box-containing 5 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 140458 ENSG00000164122 OTTHUMG00000160793 uc003iuq.3 AY057053 NM_001410863 "CCDS93672|CCDS3827" Q8WWX0 MGI:1923544 RGD:1565973 615050 HGNC:17180 "ENST00000296525.7|NM_080874.4" +HGNC:17181 ASB6 ankyrin repeat and SOCS box containing 6 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 ankyrin repeat and SOCS box-containing 6 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 140459 ENSG00000148331 OTTHUMG00000020787 uc004byf.3 NM_017873 "CCDS6924|CCDS6925|CCDS75919" Q9NWX5 MGI:1919573 RGD:1308445 615051 HGNC:17181 "ENST00000277458.5|NM_017873.4" HGNC:17182 ASB7 ankyrin repeat and SOCS box containing 7 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 ankyrin repeat and SOCS box-containing 7 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 140460 ENSG00000183475 OTTHUMG00000149868 uc002bwk.4 NM_024708 "CCDS10388|CCDS10387" Q9H672 MGI:2152835 RGD:1305154 615052 HGNC:17182 "ENST00000332783.12|NM_198243.3" -HGNC:17183 ASB8 ankyrin repeat and SOCS box containing 8 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "MGC5540|FLJ21255" ankyrin repeat and SOCS box-containing 8 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 140461 ENSG00000177981 OTTHUMG00000167834 uc001rrh.4 AK024908 NM_001319296 "CCDS81686|CCDS8761" Q9H765 12076535 MGI:1925791 RGD:1309246 615053 HGNC:17183 "ENST00000317697.8|NM_024095.5" -HGNC:17184 ASB9 ankyrin repeat and SOCS box containing 9 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "DKFZP564L0862|MGC4954|FLJ20636" ankyrin repeat and SOCS box-containing 9 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 140462 ENSG00000102048 OTTHUMG00000021172 uc004cwl.4 AK000643 NM_001031739 "CCDS35208|CCDS14163|CCDS55372" Q96DX5 12076535 MGI:1916549 RGD:1560537 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASB9 300890 HGNC:17184 "ENST00000380488.9|NM_001031739.3" +HGNC:17183 ASB8 ankyrin repeat and SOCS box containing 8 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "MGC5540|FLJ21255" ankyrin repeat and SOCS box-containing 8 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 140461 ENSG00000177981 OTTHUMG00000167834 uc001rrh.4 AK024908 NM_001319296 "CCDS8761|CCDS81686" Q9H765 12076535 MGI:1925791 RGD:1309246 615053 HGNC:17183 "ENST00000317697.8|NM_024095.5" +HGNC:17184 ASB9 ankyrin repeat and SOCS box containing 9 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "DKFZP564L0862|MGC4954|FLJ20636" ankyrin repeat and SOCS box-containing 9 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 140462 ENSG00000102048 OTTHUMG00000021172 uc004cwl.4 AK000643 NM_001031739 "CCDS14163|CCDS55372|CCDS35208" Q96DX5 12076535 MGI:1916549 RGD:1560537 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASB9 300890 HGNC:17184 "ENST00000380488.9|NM_001031739.3" HGNC:20972 ASB9P1 ankyrin repeat and SOCS box containing 9 pseudogene 1 pseudogene pseudogene Approved 15q26.1 15q26.1 ankyrin repeat and SOCS box-containing 9 pseudogene 1 2010-08-18 2011-01-25 2012-10-03 728619 ENSG00000258527 OTTHUMG00000171749 NR_033769 PGOHUM00000259002 HGNC:20972 -HGNC:17185 ASB10 ankyrin repeat and SOCS box containing 10 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 GLC1F "ankyrin repeat and SOCS box-containing 10|glaucoma 1, open angle, F (adult-onset)" Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 136371 ENSG00000146926 OTTHUMG00000157013 uc003wjm.2 AK055536 NM_080871 "CCDS5921|CCDS47749|CCDS47750" Q8WXI3 22156576 MGI:2152836 RGD:1562922 615054 358407 HGNC:17185 "ENST00000420175.3|NM_001142459.2" +HGNC:17185 ASB10 ankyrin repeat and SOCS box containing 10 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 GLC1F "ankyrin repeat and SOCS box-containing 10|glaucoma 1, open angle, F (adult-onset)" Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2023-01-20 136371 ENSG00000146926 OTTHUMG00000157013 uc003wjm.2 AK055536 NM_080871 "CCDS47749|CCDS47750|CCDS5921" Q8WXI3 22156576 MGI:2152836 RGD:1562922 615054 358407 HGNC:17185 "ENST00000420175.3|NM_001142459.2" HGNC:17186 ASB11 ankyrin repeat and SOCS box containing 11 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 DKFZp779E2460 Ankyrin repeat domain containing 403 2004-05-27 2015-12-15 2023-01-20 140456 ENSG00000165192 OTTHUMG00000021173 uc004cwp.3 AF425642 NM_001012428 "CCDS35209|CCDS56596|CCDS14164" Q8WXH4 24337577 MGI:1916104 RGD:1566298 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASB11 300626 HGNC:17186 "ENST00000480796.6|NM_080873.3" HGNC:19763 ASB12 ankyrin repeat and SOCS box containing 12 protein-coding gene gene with protein product Approved Xq11.2 Xq11.2 FLJ39577 ankyrin repeat and SOCS box-containing 12 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2023-01-20 142689 ENSG00000198881 OTTHUMG00000021705 uc004dvr.3 AF403030 NM_130388 CCDS14378 Q8WXK4 12076535 MGI:1917642 RGD:1561142 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASB12 300891 HGNC:19763 "ENST00000362002.3|NM_130388.4" HGNC:19765 ASB13 ankyrin repeat and SOCS box containing 13 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "FLJ13134|MGC19879" ankyrin repeat and SOCS box-containing 13 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2023-01-20 79754 ENSG00000196372 OTTHUMG00000017603 uc001iig.3 AK091935 NM_024701 CCDS7070 Q8WXK3 12076535 MGI:2145525 RGD:1310387 615055 HGNC:19765 "ENST00000357700.11|NM_024701.4" @@ -1721,9 +1721,9 @@ HGNC:19768 ASB16 ankyrin repeat and SOCS box containing 16 protein-coding gene g HGNC:25442 ASB16-AS1 ASB16 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 DKFZp762C2414 C17orf65 chromosome 17 open reading frame 65 Antisense RNAs 1987 2005-12-16 2012-10-11 2012-10-11 2023-03-15 339201 ENSG00000267080 OTTHUMG00000181810 uc002ifn.5 AL833953 NR_049729 Q495Z4 32214826 ASB16-AS1 HGNC:25442 HGNC:19769 ASB17 ankyrin repeat and SOCS box containing 17 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 ankyrin repeat and SOCS box-containing 17 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2023-01-20 127247 ENSG00000154007 OTTHUMG00000009787 uc001dhe.2 AF403035 NM_080868 CCDS671 Q8WXJ9 12076535 MGI:1914022 RGD:1586533 619936 HGNC:19769 "ENST00000284142.7|NM_080868.3" HGNC:19769 HGNC:19770 ASB18 ankyrin repeat and SOCS box containing 18 protein-coding gene gene with protein product Approved 2q37.2 02q37.2 ankyrin repeat and SOCS box-containing 18 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2023-01-20 401036 ENSG00000182177 OTTHUMG00000153086 uc010znh.2 AK123854 NM_212556 CCDS46548 Q6ZVZ8 12076535 MGI:2655109 RGD:1310850 HGNC:19770 "ENST00000409749.8|NM_212556.4" -HGNC:24268 ASCC1 activating signal cointegrator 1 complex subunit 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "CGI-18|ASC1p50|Em:AC022392.3|p50" Activating signal cointegrator 1 complex 1916 2004-03-17 2023-01-20 51008 ENSG00000138303 OTTHUMG00000018434 uc021pso.1 AY013290 NM_015947 "CCDS91259|CCDS91260|CCDS55713|CCDS31219" Q8N9N2 "10810093|12077347" MGI:1916340 RGD:1359255 614215 297627 HGNC:24268 "ENST00000672957.1|NM_001198800.3" HGNC:24268 +HGNC:24268 ASCC1 activating signal cointegrator 1 complex subunit 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "CGI-18|ASC1p50|Em:AC022392.3|p50" Activating signal cointegrator 1 complex 1916 2004-03-17 2023-01-20 51008 ENSG00000138303 OTTHUMG00000018434 uc021pso.1 AY013290 NM_015947 "CCDS91260|CCDS55713|CCDS91259|CCDS31219" Q8N9N2 "10810093|12077347" MGI:1916340 RGD:1359255 614215 297627 HGNC:24268 "ENST00000672957.1|NM_001198800.3" HGNC:24268 HGNC:24103 ASCC2 activating signal cointegrator 1 complex subunit 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "ASC1p100|FLJ21588|DKFZp586O0223" ASC 1 complex subunit P100 Activating signal cointegrator 1 complex 1916 2004-07-27 2023-01-20 84164 ENSG00000100325 OTTHUMG00000067658 uc003agr.4 AY013289 NM_032204 "CCDS56226|CCDS13869" Q9H1I8 "12077347|9847074" MGI:1922702 RGD:1561422 614216 HGNC:24103 "ENST00000307790.8|NM_032204.5" -HGNC:18697 ASCC3 activating signal cointegrator 1 complex subunit 3 protein-coding gene gene with protein product Approved 6q16.3 06q16.3 "RNAH|ASC1p200|dJ121G13.4|dJ467N11.1" RNA helicase family HELIC1 helicase, ATP binding 1 "DNA helicases|RNA helicases|Activating signal cointegrator 1 complex" "1167|1168|1916" 2003-11-26 2004-07-28 2023-01-20 10973 ENSG00000112249 OTTHUMG00000015279 uc003pqk.5 AJ223948 NM_006828 "CCDS75497|CCDS5047|CCDS5046" Q8N3C0 10218103 MGI:1925237 RGD:1307995 614217 HGNC:18697 "ENST00000369162.7|NM_006828.4" HGNC:18697 +HGNC:18697 ASCC3 activating signal cointegrator 1 complex subunit 3 protein-coding gene gene with protein product Approved 6q16.3 06q16.3 "RNAH|ASC1p200|dJ121G13.4|dJ467N11.1" RNA helicase family HELIC1 helicase, ATP binding 1 "DNA helicases|RNA helicases|Activating signal cointegrator 1 complex" "1167|1168|1916" 2003-11-26 2004-07-28 2023-01-20 10973 ENSG00000112249 OTTHUMG00000015279 uc003pqk.5 AJ223948 NM_006828 "CCDS75497|CCDS5046|CCDS5047" Q8N3C0 10218103 MGI:1925237 RGD:1307995 614217 HGNC:18697 "ENST00000369162.7|NM_006828.4" HGNC:18697 HGNC:738 ASCL1 achaete-scute family bHLH transcription factor 1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "ASH1|HASH1|bHLHa46" "achaete-scute complex (Drosophila) homolog-like 1|achaete-scute complex-like 1 (Drosophila)|achaete-scute complex homolog 1 (Drosophila)" Basic helix-loop-helix proteins 420 1993-12-09 2013-10-17 2023-01-20 429 ENSG00000139352 OTTHUMG00000169967 uc001tjr.5 L08424 NM_004316 CCDS31886 P50553 8390674 MGI:96919 RGD:71010 100790 159769 HGNC:738 "ENST00000266744.4|NM_004316.4" HGNC:738 HGNC:739 ASCL2 achaete-scute family bHLH transcription factor 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "ASH2|HASH2|bHLHa45" "achaete-scute complex (Drosophila) homolog-like 2|achaete-scute complex-like 2 (Drosophila)|achaete-scute complex homolog 2 (Drosophila)" Basic helix-loop-helix proteins 420 1996-04-12 2013-10-17 2023-01-20 430 ENSG00000183734 OTTHUMG00000009648 uc001lvu.4 NM_005170 CCDS7732 Q99929 9175731 MGI:96920 RGD:2159 601886 HGNC:739 "ENST00000331289.5|NM_005170.3" HGNC:740 ASCL3 achaete-scute family bHLH transcription factor 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "bHLHa42|HASH3|Sgn1" "achaete-scute complex (Drosophila) homolog-like 3|achaete-scute complex homolog 3 (Drosophila)" Basic helix-loop-helix proteins 420 2000-07-31 2013-10-17 2023-01-20 56676 ENSG00000176009 OTTHUMG00000165679 uc057yvn.1 AJ400877 NM_020646 CCDS7795 Q9NQ33 11528127 MGI:1928820 RGD:621631 609154 HGNC:740 "ENST00000531618.2|NM_020646.3" @@ -1732,30 +1732,30 @@ HGNC:33169 ASCL5 achaete-scute family bHLH transcription factor 5 protein-coding HGNC:53619 ASDURF ASNSD1 upstream open reading frame protein-coding gene gene with protein product Approved 2q32 02q32 ASNSD1 upstream reading frame 2017-07-21 2021-03-11 2023-03-08 110599588 ENSG00000286053 NM_001353493 "CCDS86902|CCDS86901" L0R819 23160002 MGI:5905289 RGD:41174017 619740 HGNC:53619 "ENST00000607829.6|NM_001353493.2" HGNC:20995 ASF1A anti-silencing function 1A histone chaperone protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "DKFZP547E2110|CIA" ASF1 anti-silencing function 1 homolog A (S. cerevisiae) 2003-05-01 2013-05-01 2023-01-20 25842 ENSG00000111875 OTTHUMG00000015470 uc011ebn.3 AF279306 NM_014034 CCDS47469 Q9Y294 "10810093|11042152" MGI:1913653 RGD:1311941 609189 HGNC:20995 "ENST00000229595.6|NM_014034.3" HGNC:20996 ASF1B anti-silencing function 1B histone chaperone protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ10604 ASF1 anti-silencing function 1 homolog B (S. cerevisiae) 2003-05-01 2013-05-01 2023-01-20 55723 ENSG00000105011 OTTHUMG00000150401 uc002mye.4 AF279307 NM_018154 CCDS12306 Q9NVP2 "11897662|11470414" MGI:1914179 RGD:1304918 609190 HGNC:20996 "ENST00000263382.8|NM_018154.3" -HGNC:742 ASGR1 asialoglycoprotein receptor 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 CLEC4H1 C-type lectin domain containing 1298 1988-05-24 2023-01-20 432 ENSG00000141505 OTTHUMG00000102159 uc002ges.5 NM_001671 "CCDS11089|CCDS56017" P07306 MGI:88081 RGD:2160 108360 HGNC:742 "ENST00000269299.8|NM_001671.5" -HGNC:743 ASGR2 asialoglycoprotein receptor 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 CLEC4H2 C-type lectin domain containing 1298 1988-05-24 2023-01-20 433 ENSG00000161944 OTTHUMG00000102158 uc002geq.4 M11025 NM_080914 "CCDS45598|CCDS92242|CCDS32544|CCDS11088" P07307 3863106 MGI:88082 RGD:2161 108361 HGNC:743 "ENST00000691900.1|NM_001201352.2" -HGNC:19088 ASH1L ASH1 like histone lysine methyltransferase protein-coding gene gene with protein product Approved 1q22 01q22 "huASH1|ASH1|ASH1L1|KMT2H" ash1 (absent, small, or homeotic)-like (Drosophila) "PHD finger proteins|Lysine methyltransferases|Bromodomain containing|SET domain containing|MicroRNA protein coding host genes" "88|487|1232|1399|1691" 2003-08-06 2016-05-04 2023-01-20 55870 ENSG00000116539 OTTHUMG00000014011 uc001fkt.4 AB037841 NM_018489 "CCDS91067|CCDS1113" Q9NR48 "10860993|16545939" MGI:2183158 RGD:1306350 607999 objectId:2648 HGNC:19088 "ENST00000392403.8|NM_018489.3" HGNC:19088 +HGNC:742 ASGR1 asialoglycoprotein receptor 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 CLEC4H1 C-type lectin domain containing 1298 1988-05-24 2023-01-20 432 ENSG00000141505 OTTHUMG00000102159 uc002ges.5 NM_001671 "CCDS56017|CCDS11089" P07306 MGI:88081 RGD:2160 108360 HGNC:742 "ENST00000269299.8|NM_001671.5" +HGNC:743 ASGR2 asialoglycoprotein receptor 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 CLEC4H2 C-type lectin domain containing 1298 1988-05-24 2023-01-20 433 ENSG00000161944 OTTHUMG00000102158 uc002geq.4 M11025 NM_080914 "CCDS92242|CCDS32544|CCDS45598|CCDS11088" P07307 3863106 MGI:88082 RGD:2161 108361 HGNC:743 "ENST00000691900.1|NM_001201352.2" +HGNC:19088 ASH1L ASH1 like histone lysine methyltransferase protein-coding gene gene with protein product Approved 1q22 01q22 "huASH1|ASH1|ASH1L1|KMT2H" ash1 (absent, small, or homeotic)-like (Drosophila) "PHD finger proteins|Lysine methyltransferases|Bromodomain containing|SET domain containing|MicroRNA protein coding host genes" "88|487|1232|1399|1691" 2003-08-06 2016-05-04 2023-01-20 55870 ENSG00000116539 OTTHUMG00000014011 uc001fkt.4 AB037841 NM_018489 "CCDS1113|CCDS91067" Q9NR48 "10860993|16545939" MGI:2183158 RGD:1306350 607999 objectId:2648 HGNC:19088 "ENST00000392403.8|NM_018489.3" HGNC:19088 HGNC:44146 ASH1L-AS1 ASH1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q22 01q22 APPLE a peptide located in ER ASH1L antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2022-11-18 645676 ENSG00000235919 OTTHUMG00000014012 uc057lqr.1 BC017347 NR_027023 34555354 ASH1L-AS1 HGNC:44146 HGNC:41449 ASH1L-IT1 ASH1L intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q22 01q22 ASH1L intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 106478976 ENSG00000227773 OTTHUMG00000014015 uc057lqo.1 ASH1L-IT1 -HGNC:744 ASH2L ASH2 like, histone lysine methyltransferase complex subunit protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "ASH2L2|ASH2|Bre2" ASH2L1 "ash2 (absent, small, or homeotic)-like (Drosophila)|ASH2 like histone lysine methyltransferase complex subunit" "PHD finger proteins|WRAD complex" "88|1558" 1998-12-03 2018-04-23 2023-01-20 9070 ENSG00000129691 OTTHUMG00000164016 uc003xkt.6 AF056717 NM_004674 "CCDS47840|CCDS6101|CCDS64872|CCDS59100" Q9UBL3 "10393421|21660059" MGI:1344416 RGD:1305632 604782 HGNC:744 "ENST00000343823.11|NM_004674.5" +HGNC:744 ASH2L ASH2 like, histone lysine methyltransferase complex subunit protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "ASH2L2|ASH2|Bre2" ASH2L1 "ash2 (absent, small, or homeotic)-like (Drosophila)|ASH2 like histone lysine methyltransferase complex subunit" "PHD finger proteins|WRAD complex" "88|1558" 1998-12-03 2018-04-23 2023-01-20 9070 ENSG00000129691 OTTHUMG00000164016 uc003xkt.6 AF056717 NM_004674 "CCDS6101|CCDS47840|CCDS64872|CCDS59100" Q9UBL3 "10393421|21660059" MGI:1344416 RGD:1305632 604782 HGNC:744 "ENST00000343823.11|NM_004674.5" HGNC:19332 ASH2LP1 ASH2L pseudogene 1 pseudogene pseudogene Approved 22q11.22 22q11.22 "ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1|ASH2 like histone lysine methyltransferase complex subunit pseudogene 1" 2002-10-03 2018-04-23 2018-04-23 266703 ENSG00000224144 OTTHUMG00000151071 NG_000002 PGOHUM00000297679 HGNC:19332 HGNC:53059 ASH2LP2 ASH2L pseudogene 2 pseudogene pseudogene Approved 22q11.22 22q11.22 ASH2 like histone lysine methyltransferase complex subunit pseudogene 2 2017-01-12 2018-04-23 2018-04-23 100422088 ENSG00000237428 OTTHUMG00000151052 NG_000002 PGOHUM00000297675 HGNC:53059 HGNC:53060 ASH2LP3 ASH2L pseudogene 3 pseudogene pseudogene Approved 22q11.22 22q11.22 ASH2 like histone lysine methyltransferase complex subunit pseudogene 3 2017-01-12 2018-04-23 2018-04-23 100736411 ENSG00000225724 OTTHUMG00000151037 NG_030227 PGOHUM00000297673 HGNC:53060 -HGNC:100 ASIC1 acid sensing ion channel subunit 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "BNaC2|hBNaC2" ACCN2 "amiloride-sensitive cation channel 2, neuronal|acid-sensing (proton-gated) ion channel 1|acid sensing (proton gated) ion channel 1" Acid sensing ion channel subunits 290 1997-09-05 2012-02-22 2015-12-14 2023-01-20 41 ENSG00000110881 OTTHUMG00000169812 uc001rvw.5 U78181 NM_020039 "CCDS44876|CCDS58228|CCDS8796" P78348 9037075 MGI:1194915 RGD:71062 602866 objectId:684 HGNC:100 "ENST00000447966.7|NM_001095.4" +HGNC:100 ASIC1 acid sensing ion channel subunit 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "BNaC2|hBNaC2" ACCN2 "amiloride-sensitive cation channel 2, neuronal|acid-sensing (proton-gated) ion channel 1|acid sensing (proton gated) ion channel 1" Acid sensing ion channel subunits 290 1997-09-05 2012-02-22 2015-12-14 2023-01-20 41 ENSG00000110881 OTTHUMG00000169812 uc001rvw.5 U78181 NM_020039 "CCDS58228|CCDS44876|CCDS8796" P78348 9037075 MGI:1194915 RGD:71062 602866 objectId:684 HGNC:100 "ENST00000447966.7|NM_001095.4" HGNC:99 ASIC2 acid sensing ion channel subunit 2 protein-coding gene gene with protein product Approved 17q11.2-q12 17q11.2-q12 "ASIC2a|BNC1|BNaC1|hBNaC1|MDEG" "degenerin|brain Na+ channel-1" "ACCN|ACCN1" "amiloride-sensitive cation channel 1, neuronal|acid-sensing (proton-gated) ion channel 2" Acid sensing ion channel subunits 290 1997-05-22 2012-02-22 2015-12-14 2023-05-31 40 ENSG00000108684 OTTHUMG00000132885 uc002hhu.4 AL834182 "NM_183377|NM_001094" "CCDS11276|CCDS42296" Q16515 8921408 MGI:1100867 RGD:2017 601784 objectId:685 HGNC:99 "ENST00000225823.7|NM_183377.2" -HGNC:101 ASIC3 acid sensing ion channel subunit 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "TNaC1|DRASIC" testis sodium channel 1 ACCN3 "amiloride-sensitive cation channel 3, testis|acid-sensing (proton-gated) ion channel 3" Acid sensing ion channel subunits 290 1999-05-04 2012-02-22 2015-12-14 2023-01-20 9311 ENSG00000213199 OTTHUMG00000158685 uc003wio.4 AB010575 NM_004769 "CCDS5915|CCDS5916|CCDS5914" Q9UHC3 "9571199|9744806" MGI:2159339 RGD:708578 611741 objectId:686 HGNC:101 "ENST00000349064.10|NM_004769.4" -HGNC:21263 ASIC4 acid sensing ion channel subunit family member 4 protein-coding gene gene with protein product Approved 2q35 02q35 BNAC4 ACCN4 "amiloride-sensitive cation channel 4, pituitary|acid-sensing (proton-gated) ion channel family member 4|acid sensing ion channel family member 4" Acid sensing ion channel subunits 290 2003-06-05 2012-02-22 2015-12-14 2023-01-20 55515 ENSG00000072182 OTTHUMG00000058928 uc061syq.1 AJ271643 NM_018674 "CCDS33384|CCDS2442" Q96FT7 10852210 MGI:2652846 RGD:621068 606715 HGNC:21263 "ENST00000358078.5|NM_018674.6" +HGNC:101 ASIC3 acid sensing ion channel subunit 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "TNaC1|DRASIC" testis sodium channel 1 ACCN3 "amiloride-sensitive cation channel 3, testis|acid-sensing (proton-gated) ion channel 3" Acid sensing ion channel subunits 290 1999-05-04 2012-02-22 2015-12-14 2023-01-20 9311 ENSG00000213199 OTTHUMG00000158685 uc003wio.4 AB010575 NM_004769 "CCDS5914|CCDS5916|CCDS5915" Q9UHC3 "9571199|9744806" MGI:2159339 RGD:708578 611741 objectId:686 HGNC:101 "ENST00000349064.10|NM_004769.4" +HGNC:21263 ASIC4 acid sensing ion channel subunit family member 4 protein-coding gene gene with protein product Approved 2q35 02q35 BNAC4 ACCN4 "amiloride-sensitive cation channel 4, pituitary|acid-sensing (proton-gated) ion channel family member 4|acid sensing ion channel family member 4" Acid sensing ion channel subunits 290 2003-06-05 2012-02-22 2015-12-14 2023-01-20 55515 ENSG00000072182 OTTHUMG00000058928 uc061syq.1 AJ271643 NM_018674 "CCDS2442|CCDS33384" Q96FT7 10852210 MGI:2652846 RGD:621068 606715 HGNC:21263 "ENST00000358078.5|NM_018674.6" HGNC:40960 ASIC4-AS1 ASIC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2019-07-24 2019-07-24 105373885 ENSG00000227432 OTTHUMG00000133672 XR_923921 HGNC:40960 HGNC:17537 ASIC5 acid sensing ion channel subunit family member 5 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "INAC|HINAC" ACCN5 "amiloride-sensitive cation channel 5, intestinal|acid-sensing (proton-gated) ion channel family member 5" Acid sensing ion channel subunits 290 2003-06-05 2012-03-02 2015-12-14 2023-01-20 51802 ENSG00000256394 OTTHUMG00000161941 uc003ipe.1 AJ252011 NM_017419 CCDS3793 Q9NY37 10767424 MGI:1929259 RGD:69295 616693 HGNC:17537 "ENST00000537611.3|NM_017419.3" HGNC:745 ASIP agouti signaling protein protein-coding gene gene with protein product Approved 20q11.22 20q11.22 ASP nonagouti homolog (mouse) AGTIL "agouti (mouse)-signaling protein|agouti signaling protein, nonagouti homolog (mouse)" 1995-01-03 2010-06-24 2023-01-20 434 ENSG00000101440 OTTHUMG00000032289 uc061wig.1 NM_001385218 CCDS13232 P42127 "7937887|7757071" MGI:87853 RGD:2003 600201 ligandId:3609 HGNC:745 "ENST00000374954.4|NM_001672.3" -HGNC:746 ASL argininosuccinate lyase protein-coding gene gene with protein product Approved 7q11.21 07q11.21 ASAL 2001-06-22 2023-01-20 435 ENSG00000126522 OTTHUMG00000022876 uc003tuo.4 NM_000048 "CCDS47598|CCDS47597|CCDS5531" P04424 MGI:88084 RGD:619974 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASL 608310 121455 4.3.2.1 HGNC:746 "ENST00000304874.14|NM_000048.4" HGNC:746 +HGNC:746 ASL argininosuccinate lyase protein-coding gene gene with protein product Approved 7q11.21 07q11.21 ASAL 2001-06-22 2023-01-20 435 ENSG00000126522 OTTHUMG00000022876 uc003tuo.4 NM_000048 "CCDS5531|CCDS47597|CCDS47598" P04424 MGI:88084 RGD:619974 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASL 608310 121455 4.3.2.1 HGNC:746 "ENST00000304874.14|NM_000048.4" HGNC:746 HGNC:747 ASLP1 argininosuccinate lyase pseudogene 1 pseudogene pseudogene Approved 22q11.23 22q11.23 ASLL argininosuccinate lyase-like 1986-01-01 2010-09-30 2010-09-30 2010-09-30 436 ENSG00000244723 OTTHUMG00000150707 NG_002637 PGOHUM00000250321 HGNC:747 HGNC:53135 ASMER1 adipocyte associated metabolic related lncRNA 1 non-coding RNA RNA, long non-coding Approved 21q11.2 21q11.2 "ENST00000418954|ASMER-1" adipocyte specific metabolic related lncRNA 1 LINC02246 long intergenic non-protein coding RNA 2246 Long non-coding RNAs with non-systematic symbols 1992 2017-02-16 2023-02-02 2023-02-02 2023-02-02 107987295 ENSG00000281903 OTTHUMG00000074322 NR_146322 "27816668|29580841" HGNC:53135 HGNC:56702 ASMER2 adipocyte associated metabolic related lncRNA 2 non-coding RNA RNA, long non-coding Approved Xp11.22 Xp11.22 "ASMER-2|CATG00000111229.1" adipocyte specific metabolic related lncRNA 2 Long non-coding RNAs with non-systematic symbols 1992 2023-02-02 2023-02-02 105373202 XR_001755849 29580841 HGNC:750 ASMT acetylserotonin O-methyltransferase protein-coding gene gene with protein product Approved Xp22.3 and Yp11.3 Xp22.3 and Yp11.3 "HIOMT|ASMTY|HIOMTY" "Pseudoautosomal region 1|7BS small molecule methyltransferases" "715|2063" 1992-12-11 2023-01-20 438 ENSG00000196433 OTTHUMG00000021065 uc065cod.1 M83779 NM_004043 "CCDS14117|CCDS55364" P46597 "8397829|7989373" MGI:96090 RGD:708472 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASMT "300015|402500" 469966 2.1.1.4 HGNC:750 "ENST00000381241.9|NM_001171038.2" HGNC:751 ASMTL acetylserotonin O-methyltransferase like protein-coding gene gene with protein product Approved Xp22.3 and Yp11.3 Xp22.3 and Yp11.3 "Pseudoautosomal region 1|7BS small molecule methyltransferases" "715|2063" 1999-05-07 2017-02-20 2023-01-20 8623 ENSG00000169093 OTTHUMG00000021057 uc004fpk.3 Y15521 NM_004192 "CCDS55362|CCDS43917|CCDS55363" O95671 9736779 RGD:1306877 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASMTL "300162|400011" HGNC:751 "ENST00000381317.9|NM_004192.4" HGNC:25811 ASMTL-AS1 ASMTL antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 FLJ13330 "CXYorf2|NCRNA00105|ASMTLAS|ASMTL-AS" "chromosome X and Y open reading frame 2|non-protein coding RNA 105|ASMTL antisense RNA (non-protein coding)|ASMTL antisense RNA 1 (non-protein coding)" "Pseudoautosomal region 1|Antisense RNAs" "715|1987" 2004-06-16 2010-11-25 2012-08-15 2020-04-02 80161 ENSG00000236017 OTTHUMG00000021056 uc065cnu.1 AK023392 XR_040863 14702039 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASMTL-AS1 HGNC:25811 -HGNC:753 ASNS asparagine synthetase (glutamine-hydrolyzing) protein-coding gene gene with protein product Approved 7q21.3 07q21.3 asparagine synthetase 2001-06-22 2019-07-03 2023-01-20 440 ENSG00000070669 OTTHUMG00000022892 uc003uou.5 M27396 "NM_001673|NM_183356" "CCDS55132|CCDS55131|CCDS5652" P08243 7904551 MGI:1350929 RGD:2162 108370 394593 C44.974 6.3.5.4 HGNC:753 "ENST00000394308.8|NM_001673.5" HGNC:753 +HGNC:753 ASNS asparagine synthetase (glutamine-hydrolyzing) protein-coding gene gene with protein product Approved 7q21.3 07q21.3 asparagine synthetase 2001-06-22 2019-07-03 2023-01-20 440 ENSG00000070669 OTTHUMG00000022892 uc003uou.5 M27396 "NM_001673|NM_183356" "CCDS5652|CCDS55132|CCDS55131" P08243 7904551 MGI:1350929 RGD:2162 108370 394593 C44.974 6.3.5.4 HGNC:753 "ENST00000394308.8|NM_001673.5" HGNC:753 HGNC:24910 ASNSD1 asparagine synthetase domain containing 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "NS3TP1|FLJ20752|NBLA00058" 2006-02-13 2023-01-20 54529 ENSG00000138381 OTTHUMG00000132665 uc002uqt.4 AY116969 NM_019048 CCDS2300 Q9NWL6 MGI:1917646 RGD:1306332 619739 HGNC:24910 "ENST00000260952.9|NM_019048.4" HGNC:754 ASNSP1 ASNS pseudogene 1 pseudogene pseudogene Approved 8q11.1 08q11.1 ASNSL1 "asparagine synthetase-like 1|asparagine synthetase pseudogene 1" 1989-05-25 2010-03-17 2021-06-11 2021-06-11 389652 ENSG00000248498 OTTHUMG00000165535 NR_146077 PGOHUM00000249318 HGNC:754 HGNC:755 ASNSP2 ASNS pseudogene 2 pseudogene pseudogene Approved 21p11.2 21p11.2 ASNSL2 "asparagine synthetase-like 2|asparagine synthetase pseudogene 2" 1989-05-25 2010-03-17 2021-06-11 2021-06-11 442 NG_029775 PGOHUM00000239104 HGNC:755 @@ -1766,7 +1766,7 @@ HGNC:49876 ASNSP6 ASNS pseudogene 6 pseudogene pseudogene Approved 18p11.21 18p1 HGNC:756 ASPA aspartoacylase protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "ASP|ACY2" "aminoacylase 2|Canavan disease" aspartoacylase (aminoacylase 2, Canavan disease) 1993-12-09 2010-06-24 2023-01-20 443 ENSG00000108381 OTTHUMG00000090655 uc002fvq.4 S67156 NM_000049 CCDS11028 P45381 8252036 MGI:87914 RGD:621693 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASPA 608034 121457 3.5.1.15 HGNC:756 "ENST00000263080.3|NM_000049.4" HGNC:756 HGNC:33856 ASPDH aspartate dehydrogenase domain containing protein-coding gene gene with protein product Approved 19q13.33 19q13.33 2009-01-15 2023-01-20 554235 ENSG00000204653 OTTHUMG00000183057 uc010enz.4 NM_001024656 "CCDS33082|CCDS46153" A6ND91 MGI:1915602 RGD:1310111 HGNC:33856 "ENST00000389208.9|NM_001114598.2" HGNC:20123 ASPG asparaginase protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "LysoLP|hASNase1" "60 kDa lysophospholipase|PAF acetylhydrolase" C14orf76 "chromosome 14 open reading frame 76|asparaginase homolog (S. cerevisiae)" Ankyrin repeat domain containing 403 2002-12-18 2008-11-06 2014-03-14 2023-01-20 374569 ENSG00000166183 OTTHUMG00000170045 uc001yoq.3 NM_001080464 "CCDS91954|CCDS45170" Q86U10 "24657844|28542249" MGI:2144822 RGD:708388 618472 objectId:2762 "3.1.1.5|3.5.1.1|3.1.1.47" HGNC:20123 "ENST00000551177.6|NM_001080464.3" -HGNC:757 ASPH aspartate beta-hydroxylase protein-coding gene gene with protein product Approved 8q12.3 08q12.3 "CASQ2BP1|BAH|JCTN|HAAH" "junctin|humbug|junctate" 1995-06-13 2023-01-20 444 ENSG00000198363 OTTHUMG00000164375 uc003xuj.4 AF224468 NM_004318 "CCDS55238|CCDS55237|CCDS55236|CCDS55235|CCDS55234|CCDS34900|CCDS43742|CCDS34898|CCDS47866|CCDS34899|CCDS75746" Q12797 "7821814|10974562" MGI:1914186 RGD:1312000 600582 422966 1.14.11.16 HGNC:757 "ENST00000379454.9|NM_004318.4" HGNC:757 +HGNC:757 ASPH aspartate beta-hydroxylase protein-coding gene gene with protein product Approved 8q12.3 08q12.3 "CASQ2BP1|BAH|JCTN|HAAH" "junctin|humbug|junctate" 1995-06-13 2023-01-20 444 ENSG00000198363 OTTHUMG00000164375 uc003xuj.4 AF224468 NM_004318 "CCDS34900|CCDS75746|CCDS34898|CCDS55238|CCDS55235|CCDS47866|CCDS34899|CCDS43742|CCDS55234|CCDS55236|CCDS55237" Q12797 "7821814|10974562" MGI:1914186 RGD:1312000 600582 422966 1.14.11.16 HGNC:757 "ENST00000379454.9|NM_004318.4" HGNC:757 HGNC:27380 ASPHD1 aspartate beta-hydroxylase domain containing 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2006-01-31 2023-01-20 253982 ENSG00000174939 OTTHUMG00000132121 uc002dut.4 AF070642 NM_181718 CCDS10660 Q5U4P2 MGI:2685014 RGD:1306636 HGNC:27380 "ENST00000308748.10|NM_181718.4" HGNC:30437 ASPHD2 aspartate beta-hydroxylase domain containing 2 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 FLJ39838 2006-01-31 2023-01-20 57168 ENSG00000128203 OTTHUMG00000150884 uc003acg.3 AK097157 NM_020437 CCDS13834 Q6ICH7 MGI:1920148 RGD:1306020 HGNC:30437 "ENST00000215906.6|NM_020437.5" HGNC:19048 ASPM assembly factor for spindle microtubules protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "Calmbp1|ASP|FLJ10517|FLJ10549" MCPH5 "microcephaly, primary autosomal recessive 5|asp (abnormal spindle)-like, microcephaly associated (Drosophila)|asp (abnormal spindle) homolog, microcephaly associated (Drosophila)|abnormal spindle microtubule assembly" 2002-08-13 2019-12-20 2023-01-20 259266 ENSG00000066279 OTTHUMG00000036277 uc001gtu.4 AY367065 NM_018136 "CCDS55672|CCDS1389" Q8IZT6 11078481 MGI:1334448 RGD:1307111 605481 121461 HGNC:19048 "ENST00000367409.9|NM_018136.5" HGNC:19048 @@ -1793,9 +1793,9 @@ HGNC:25021 ASTE1 asteroid homolog 1 protein-coding gene gene with protein produc HGNC:56718 ASTILCS antisense transcript of PTP4A3, liver carcinoma survival associated non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 AntiSense Transcript Important for Liver Carcinoma Survival Long non-coding RNAs with non-systematic symbols 1992 2023-02-27 2023-02-27 105375790 ENSG00000244998 XR_001746128 33589614 HGNC:31704 ASTL astacin like metalloendopeptidase protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "ovastacin|SAS1B" sperm acrosomal SLLP1 binding astacin-like metallo-endopeptidase (M12 family) Astacins 894 2004-07-01 2016-08-10 2023-01-20 431705 ENSG00000188886 OTTHUMG00000155212 uc010yui.2 AJ537600 NM_001002036 CCDS33249 Q6HA08 15087446 MGI:3046414 RGD:1562279 608860 M12.245 3.4.24.21 HGNC:31704 "ENST00000342380.3|NM_001002036.4" HGNC:773 ASTN1 astrotactin 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 ASTN astrotactin "Fibronectin type III domain containing|MicroRNA protein coding host genes" "555|1691" 1996-08-12 2006-08-24 2006-08-24 2023-01-20 460 ENSG00000152092 OTTHUMG00000035041 uc001glc.5 AB006627 NM_004319 "CCDS1319|CCDS44280|CCDS65732" O14525 9070947 MGI:1098567 RGD:727799 600904 HGNC:773 "ENST00000361833.7|NM_004319.3" -HGNC:17021 ASTN2 astrotactin 2 protein-coding gene gene with protein product Approved 9q33.1 09q33.1 KIAA0634 "Fibronectin type III domain containing|Small nucleolar RNA protein coding host genes" "555|1835" 2001-10-18 2023-01-20 23245 ENSG00000148219 OTTHUMG00000021013 uc004bjt.3 AF116574 NM_014010 "CCDS55334|CCDS6816|CCDS48009|CCDS6814|CCDS6815" O75129 9734811 MGI:1889277 RGD:2320342 612856 HGNC:17021 "ENST00000313400.9|NM_001365068.1" HGNC:17021 +HGNC:17021 ASTN2 astrotactin 2 protein-coding gene gene with protein product Approved 9q33.1 09q33.1 KIAA0634 "Fibronectin type III domain containing|Small nucleolar RNA protein coding host genes" "555|1835" 2001-10-18 2023-01-20 23245 ENSG00000148219 OTTHUMG00000021013 uc004bjt.3 AF116574 NM_014010 "CCDS48009|CCDS6816|CCDS6814|CCDS55334|CCDS6815" O75129 9734811 MGI:1889277 RGD:2320342 612856 HGNC:17021 "ENST00000313400.9|NM_001365068.1" HGNC:17021 HGNC:51175 ASTN2-AS1 ASTN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q33.1 09q33.1 Antisense RNAs 1987 2014-07-31 2014-07-31 100128505 ENSG00000229105 OTTHUMG00000020556 AK097822 NR_033973 ASTN2-AS1 HGNC:51175 -HGNC:18318 ASXL1 ASXL transcriptional regulator 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 KIAA0978 "additional sex combs like 1 (Drosophila)|additional sex combs like 1, transcriptional regulator" 2002-03-06 2018-05-10 2023-01-20 171023 ENSG00000171456 OTTHUMG00000032218 uc061wej.1 AJ438952 NM_015338 "CCDS86944|CCDS86945|CCDS13201" Q8IXJ9 12657473 MGI:2684063 RGD:1561878 LRG_630|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_630.xml ASXL1 612990 281482 HGNC:18318 "ENST00000375687.10|NM_015338.6" HGNC:18318 +HGNC:18318 ASXL1 ASXL transcriptional regulator 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 KIAA0978 "additional sex combs like 1 (Drosophila)|additional sex combs like 1, transcriptional regulator" 2002-03-06 2018-05-10 2023-01-20 171023 ENSG00000171456 OTTHUMG00000032218 uc061wej.1 AJ438952 NM_015338 "CCDS86945|CCDS86944|CCDS13201" Q8IXJ9 12657473 MGI:2684063 RGD:1561878 LRG_630|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_630.xml ASXL1 612990 281482 HGNC:18318 "ENST00000375687.10|NM_015338.6" HGNC:18318 HGNC:23805 ASXL2 ASXL transcriptional regulator 2 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "ASXH2|FLJ10898|KIAA1685" "additional sex combs like 2 (Drosophila)|additional sex combs like 2, transcriptional regulator" 2003-12-11 2018-05-10 2023-01-20 55252 ENSG00000143970 OTTHUMG00000152176 uc061hgj.1 NM_018263 CCDS92720 Q76L83 12888926 MGI:1922552 RGD:1304710 LRG_1421|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1421.xml 612991 HGNC:23805 "ENST00000435504.9|NM_018263.6" HGNC:23805 HGNC:29357 ASXL3 ASXL transcriptional regulator 3 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 KIAA1713 "KIAA1713|additional sex combs like 3 (Drosophila)|additional sex combs like 3, transcriptional regulator" 2005-01-11 2007-02-01 2018-05-10 2023-01-20 80816 ENSG00000141431 OTTHUMG00000178395 uc010dmg.2 AB051500 NM_030632 CCDS45847 Q9C0F0 11214970 MGI:2685175 RGD:1305869 615115 356141 HGNC:29357 "ENST00000269197.12|NM_030632.3" HGNC:29357 HGNC:55290 ASXL3-DT ASXL3 divergent transcript non-coding RNA RNA, long non-coding Approved 18q12.1 18q12.1 Divergent transcripts 1990 2020-10-14 2020-10-14 118827808 ENSG00000267642 @@ -1803,18 +1803,18 @@ HGNC:1350 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 HGNC:25903 ATAD1 ATPase family AAA domain containing 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "FLJ14600|Msp1" "thorase|Outer mitochondrial transmembrane helix translocase" AAA ATPases 413 2004-03-24 2007-02-08 2019-01-18 2023-01-20 84896 ENSG00000138138 OTTHUMG00000018685 uc001kez.2 AL834370 NM_032810 CCDS7386 Q8NBU5 24843043 MGI:1915229 RGD:1308570 614452 HGNC:25903 "ENST00000680024.1|NM_001321967.2" HGNC:25903 HGNC:30123 ATAD2 ATPase family AAA domain containing 2 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "PRO2000|DKFZp667N1320|MGC5254|MGC29843|CT137|ANCCA" AAA nuclear coregulator cancer-associated protein "AAA ATPases|Bromodomain containing|MicroRNA protein coding host genes" "413|1232|1691" 2004-03-24 2007-02-08 2019-01-18 2023-01-20 29028 ENSG00000156802 OTTHUMG00000165090 uc003yqh.5 BC019909 NM_014109 CCDS6343 Q6PL18 26459632 MGI:1917722 RGD:1304849 611941 objectId:2719 HGNC:30123 "ENST00000287394.10|NM_014109.4" HGNC:29230 ATAD2B ATPase family AAA domain containing 2B protein-coding gene gene with protein product Approved 2p24.1-p23.3 02p24.1-p23.3 KIAA1240 "AAA ATPases|Bromodomain containing" "413|1232" 2006-11-28 2007-02-08 2019-01-18 2023-01-20 54454 ENSG00000119778 OTTHUMG00000151902 uc002rek.5 AB033066 NM_017552 CCDS46227 Q9ULI0 MGI:2444798 RGD:1566199 615347 objectId:2720 HGNC:29230 "ENST00000238789.10|NM_017552.4" -HGNC:25567 ATAD3A ATPase family AAA domain containing 3A protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ10709 AAA ATPases 413 2004-03-24 2007-02-08 2019-01-18 2023-01-20 55210 ENSG00000197785 OTTHUMG00000000575 uc001aga.3 AK025865 NM_018188 "CCDS31|CCDS53259|CCDS53260" Q9NVI7 28158749 MGI:1919214 RGD:1305964 612316 469968 HGNC:25567 "ENST00000378756.8|NM_001170535.3" HGNC:25567 +HGNC:25567 ATAD3A ATPase family AAA domain containing 3A protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ10709 AAA ATPases 413 2004-03-24 2007-02-08 2019-01-18 2023-01-20 55210 ENSG00000197785 OTTHUMG00000000575 uc001aga.3 AK025865 NM_018188 "CCDS53260|CCDS53259|CCDS31" Q9NVI7 28158749 MGI:1919214 RGD:1305964 612316 469968 HGNC:25567 "ENST00000378756.8|NM_001170535.3" HGNC:25567 HGNC:24007 ATAD3B ATPase family AAA domain containing 3B protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "TOB3|KIAA1273" AAA ATPases 413 2004-03-24 2007-02-08 2019-01-18 2023-01-20 83858 ENSG00000160072 OTTHUMG00000000577 uc001afv.4 AL834179 NM_031921 CCDS30 Q5T9A4 10574462 MGI:1919214 612317 HGNC:24007 "ENST00000673477.1|NM_031921.6" HGNC:32151 ATAD3C ATPase family AAA domain containing 3C protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ34599 AAA ATPases 413 2005-07-15 2007-02-08 2019-01-18 2023-03-15 219293 ENSG00000215915 OTTHUMG00000000531 uc001aft.2 AK091918 NM_001039211 CCDS44039 Q5T2N8 MGI:1919214 617227 HGNC:32151 "ENST00000378785.7|NM_001039211.3" HGNC:25752 ATAD5 ATPase family AAA domain containing 5 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "FLJ12735|FRAG1|ELG1" enhanced level of genomic instability 1 homolog (S. cerevisiae) C17orf41 chromosome 17 open reading frame 41 AAA ATPases 413 2005-05-24 2007-02-08 2019-01-18 2023-01-20 79915 ENSG00000176208 OTTHUMG00000132794 uc002hfs.2 NM_024857 CCDS11260 Q96QE3 "15983387|11468690|19755857" MGI:2442925 RGD:1561464 609534 HGNC:25752 "ENST00000321990.5|NM_024857.5" -HGNC:21186 ATAT1 alpha tubulin acetyltransferase 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "FLJ13158|Em:AB023049.7|MEC17" alpha-tubulin N-acetyltransferase C6orf134 chromosome 6 open reading frame 134 Lysine acetyltransferases 486 2003-06-02 2010-10-11 2010-10-11 2023-01-20 79969 ENSG00000137343 OTTHUMG00000031219 uc003nqs.5 AK023220 NM_024909 "CCDS4683|CCDS59002|CCDS83072|CCDS83073|CCDS54978" Q5SQI0 20829795 MGI:1913869 RGD:1303066 615556 2.3.1.108 HGNC:21186 "ENST00000330083.6|NM_001031722.4" +HGNC:21186 ATAT1 alpha tubulin acetyltransferase 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "FLJ13158|Em:AB023049.7|MEC17" alpha-tubulin N-acetyltransferase C6orf134 chromosome 6 open reading frame 134 Lysine acetyltransferases 486 2003-06-02 2010-10-11 2010-10-11 2023-01-20 79969 ENSG00000137343 OTTHUMG00000031219 uc003nqs.5 AK023220 NM_024909 "CCDS59002|CCDS83072|CCDS4683|CCDS83073|CCDS54978" Q5SQI0 20829795 MGI:1913869 RGD:1303066 615556 2.3.1.108 HGNC:21186 "ENST00000330083.6|NM_001031722.4" HGNC:779 ATCAY ATCAY kinesin light chain interacting caytaxin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 BNIP-H "Cayman ataxia|caytaxin" "ataxia, cerebellar, Cayman type|ATCAY, caytaxin" BCH domain containing 1299 1997-01-10 2019-01-31 2023-01-20 85300 ENSG00000167654 OTTHUMG00000181836 uc002lyy.5 NM_033064 CCDS45923 Q86WG3 "8845847|14556008" MGI:2448730 RGD:1309312 608179 121472 HGNC:779 "ENST00000450849.7|NM_033064.5" HGNC:779 -HGNC:782 ATE1 arginyltransferase 1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 1999-09-07 2023-03-15 11101 ENSG00000107669 OTTHUMG00000019178 uc010qtr.3 AF079098 NM_001001976 "CCDS31299|CCDS73213|CCDS31300" O95260 "16002466|16943202" MGI:1333870 RGD:1309335 607103 2.3.2.8 HGNC:782 "ENST00000224652.12|NM_001001976.3" +HGNC:782 ATE1 arginyltransferase 1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 1999-09-07 2023-03-15 11101 ENSG00000107669 OTTHUMG00000019178 uc010qtr.3 AF079098 NM_001001976 "CCDS73213|CCDS31300|CCDS31299" O95260 "16002466|16943202" MGI:1333870 RGD:1309335 607103 2.3.2.8 HGNC:782 "ENST00000224652.12|NM_001001976.3" HGNC:49496 ATE1OSP ATE1 opposite strand, pseudogene pseudogene pseudogene Approved 10q26.13 10q26.13 ENST00000437593 ATE1-AS1 ATE1 antisense RNA 1 Antisense RNAs 1987 2013-12-20 2022-06-16 2022-06-16 2022-06-16 100130887 ENSG00000226864 OTTHUMG00000019179 NR_120495 MGI:3782452 ATE1-AS1 HGNC:49496 HGNC:783 ATF1 activating transcription factor 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 TREB36 Basic leucine zipper proteins 506 1994-03-16 2023-01-20 466 ENSG00000123268 OTTHUMG00000169482 uc001rww.5 BC029619 NM_005171 CCDS8803 P18846 8401579 MGI:1298366 RGD:1307360 ATF1 123803 201770 HGNC:783 "ENST00000262053.8|NM_005171.5" HGNC:37691 ATF1P1 activating transcription factor 1 pseudogene 1 pseudogene pseudogene Approved 6q16.1 06q16.1 2010-01-14 2014-11-18 100128159 ENSG00000219387 OTTHUMG00000015225 NG_016455 PGOHUM00000243295 HGNC:37691 -HGNC:784 ATF2 activating transcription factor 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "TREB7|CRE-BP1|HB16" CREB2 cAMP responsive element binding protein 2 "Basic leucine zipper proteins|MicroRNA protein coding host genes" "506|1691" 1991-08-01 2023-01-20 1386 ENSG00000115966 OTTHUMG00000132424 uc010fqu.5 X15875 NM_001880 "CCDS58739|CCDS58737|CCDS58738|CCDS2262" P15336 "1833307|1838349" MGI:109349 RGD:621862 123811 HGNC:784 "ENST00000264110.7|NM_001880.4" -HGNC:785 ATF3 activating transcription factor 3 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 Basic leucine zipper proteins 506 1994-08-03 2023-01-20 467 ENSG00000162772 OTTHUMG00000036747 uc001hjf.4 L19871 NM_001674 "CCDS41464|CCDS55688|CCDS58059|CCDS1506" P18847 7515060 MGI:109384 RGD:2165 603148 HGNC:785 "ENST00000341491.9|NM_001674.4" +HGNC:784 ATF2 activating transcription factor 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "TREB7|CRE-BP1|HB16" CREB2 cAMP responsive element binding protein 2 "Basic leucine zipper proteins|MicroRNA protein coding host genes" "506|1691" 1991-08-01 2023-01-20 1386 ENSG00000115966 OTTHUMG00000132424 uc010fqu.5 X15875 NM_001880 "CCDS58737|CCDS2262|CCDS58739|CCDS58738" P15336 "1833307|1838349" MGI:109349 RGD:621862 123811 HGNC:784 "ENST00000264110.7|NM_001880.4" +HGNC:785 ATF3 activating transcription factor 3 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 Basic leucine zipper proteins 506 1994-08-03 2023-01-20 467 ENSG00000162772 OTTHUMG00000036747 uc001hjf.4 L19871 NM_001674 "CCDS1506|CCDS41464|CCDS58059|CCDS55688" P18847 7515060 MGI:109384 RGD:2165 603148 HGNC:785 "ENST00000341491.9|NM_001674.4" HGNC:786 ATF4 activating transcription factor 4 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "TAXREB67|CREB-2" tax-responsive enhancer element B67 TXREB activating transcription factor 4 (tax-responsive enhancer element B67) Basic leucine zipper proteins 506 1992-06-09 2013-05-23 2023-01-20 468 ENSG00000128272 OTTHUMG00000151099 uc021wpz.2 D90209 NM_001675 CCDS13996 P18848 "1847461|1534408" MGI:88096 RGD:621863 604064 HGNC:786 "ENST00000674920.3|NM_182810.3" HGNC:789 ATF4P1 activating transcription factor 4 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 TAXREB67P "TXREBP|ATF4P" activating transcription factor 4 pseudogene (tax-responsive enhancer element B67 pseudogene) 1994-01-31 2008-03-17 2008-03-17 2015-07-29 469 ENSG00000213338 OTTHUMG00000189741 U03712 NG_001080 8088803 PGOHUM00000241613 HGNC:789 HGNC:34025 ATF4P2 activating transcription factor 4 pseudogene 2 pseudogene pseudogene Approved Xq28 Xq28 2008-03-17 2015-01-29 340600 ENSG00000273041 OTTHUMG00000188664 NG_002951 PGOHUM00000305402 HGNC:34025 @@ -1824,21 +1824,21 @@ HGNC:790 ATF5 activating transcription factor 5 protein-coding gene gene with pr HGNC:791 ATF6 activating transcription factor 6 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 ATF6A activating transcription factor 6 alpha Basic leucine zipper proteins 506 1999-12-15 2023-01-20 22926 ENSG00000118217 OTTHUMG00000023961 uc001gbs.4 AB015856 NM_007348 "CCDS91093|CCDS1235" P18850 "9837962|9271374|11256944" MGI:1926157 RGD:1305471 605537 436836 HGNC:791 "ENST00000367942.4|NM_007348.4" HGNC:791 HGNC:55826 ATF6-DT ATF6 divergent transcript non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Divergent transcripts 1990 2021-08-02 2021-08-02 102724329 ENSG00000226889 XR_007066694 HGNC:2349 ATF6B activating transcription factor 6 beta protein-coding gene gene with protein product Approved 6p21.3 06p21.3 G13 CREBL1 cAMP responsive element binding protein-like 1 Basic leucine zipper proteins 506 1995-10-09 2008-10-21 2008-10-21 2023-01-20 1388 ENSG00000213676 OTTHUMG00000031296 uc011git.3 NM_001136153 "CCDS47408|CCDS4737" Q99941 "11256944|14973138" MGI:105121 RGD:1303317 600984 HGNC:2349 "ENST00000375203.8|NM_004381.5" -HGNC:792 ATF7 activating transcription factor 7 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 ATFA Basic leucine zipper proteins 506 2000-06-13 2023-03-15 11016 ENSG00000170653 OTTHUMG00000169776 uc001sdz.4 X52943 NM_001130059 "CCDS58238|CCDS44906|CCDS44905" P17544 "1694576|11278933" MGI:2443472 RGD:1304940 606371 HGNC:792 "ENST00000420353.7|NM_006856.3" +HGNC:792 ATF7 activating transcription factor 7 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 ATFA Basic leucine zipper proteins 506 2000-06-13 2023-03-15 11016 ENSG00000170653 OTTHUMG00000169776 uc001sdz.4 X52943 NM_001130059 "CCDS44906|CCDS58238|CCDS44905" P17544 "1694576|11278933" MGI:2443472 RGD:1304940 606371 HGNC:792 "ENST00000420353.7|NM_006856.3" HGNC:55073 ATF7-NPFF ATF7-NPFF readthrough other readthrough Approved 12q13.13 12q13.13 2020-06-11 2020-06-11 114108587 ENSG00000267281 NM_001366559 -HGNC:20092 ATF7IP activating transcription factor 7 interacting protein protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "FLJ10688|p621|ATF7IP1" Fibronectin type III domain containing 555 2002-12-17 2023-01-20 55729 ENSG00000171681 OTTHUMG00000168656 uc001rbw.4 AJ242978 NM_018179 "CCDS8663|CCDS73449|CCDS66327|CCDS66326" Q6VMQ6 "10976766|10777215" MGI:1858965 RGD:1306030 613644 HGNC:20092 "ENST00000261168.9|NM_018179.5" +HGNC:20092 ATF7IP activating transcription factor 7 interacting protein protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "FLJ10688|p621|ATF7IP1" Fibronectin type III domain containing 555 2002-12-17 2023-01-20 55729 ENSG00000171681 OTTHUMG00000168656 uc001rbw.4 AJ242978 NM_018179 "CCDS73449|CCDS66327|CCDS8663|CCDS66326" Q6VMQ6 "10976766|10777215" MGI:1858965 RGD:1306030 613644 HGNC:20092 "ENST00000261168.9|NM_018179.5" HGNC:20397 ATF7IP2 activating transcription factor 7 interacting protein 2 protein-coding gene gene with protein product Approved 16p13.2-p13.13 16p13.2-p13.13 FLJ12668 Fibronectin type III domain containing 555 2003-04-03 2023-01-20 80063 ENSG00000166669 OTTHUMG00000129749 uc002czu.3 AK022730 NM_024997 "CCDS58422|CCDS10540" Q5U623 MGI:1922579 RGD:1583744 613645 HGNC:20397 "ENST00000562102.6|NM_001393719.1" HGNC:29028 ATG2A autophagy related 2A protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "KIAA0404|BLTP4A" bridge-like lipid transfer protein family member 4A ATG2 autophagy related 2 homolog A (S. cerevisiae) "Autophagy related|MicroRNA protein coding host genes|bridge-like lipid transfer protein family" "1022|1691|2141" 2007-07-31 2012-06-06 2023-01-20 23130 ENSG00000110046 OTTHUMG00000066831 uc001obx.4 NM_015104 CCDS31602 Q2TAZ0 21887408 MGI:1916291 RGD:1589890 616225 HGNC:29028 "ENST00000377264.8|NM_015104.3" HGNC:20187 ATG2B autophagy related 2B protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "FLJ10242|BLTP4B" bridge-like lipid transfer protein family member 4B C14orf103 "chromosome 14 open reading frame 103|ATG2 autophagy related 2 homolog B (S. cerevisiae)" "Autophagy related|bridge-like lipid transfer protein family" "1022|2141" 2002-12-20 2007-07-31 2012-06-06 2023-01-20 55102 ENSG00000066739 OTTHUMG00000149933 uc001yfi.4 AK001104 NM_018036 CCDS9944 Q96BY7 22350415 MGI:1923809 RGD:1304878 616226 469970 HGNC:20187 "ENST00000359933.6|NM_018036.7" HGNC:20962 ATG3 autophagy related 3 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "PC3-96|FLJ22125|MGC15201|DKFZp564M1178" APG3L "APG3 autophagy 3-like (S. cerevisiae)|ATG3 autophagy related 3 homolog (S. cerevisiae)" Autophagy related 1022 2004-07-05 2005-09-11 2012-06-06 2023-01-20 64422 ENSG00000144848 OTTHUMG00000159260 uc003dzd.5 NM_022488 "CCDS63721|CCDS2966" Q9NT62 11825910 MGI:1915091 RGD:708464 609606 HGNC:20962 "ENST00000283290.10|NM_022488.5" HGNC:31123 ATG3P1 autophagy related 3 pseudogene 1 pseudogene pseudogene Approved 20q12 20q12 dJ54G6.1 ATG3P "ATG3 autophagy related 3 homolog (S. cerevisiae) pseudogene|ATG3 autophagy related 3 homolog (S. cerevisiae) pseudogene 1" 2008-01-31 2010-02-24 2012-06-06 2014-11-19 100135756 ENSG00000224357 OTTHUMG00000032467 AY392024 NG_007378 PGOHUM00000247532 HGNC:31123 -HGNC:16489 ATG4A autophagy related 4A cysteine peptidase protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "AUTL2|APG4A" "AUT-like 2, cysteine endopeptidase (S. cerevisiae)|APG4 autophagy 4 homolog A (S. cerevisiae)|ATG4 autophagy related 4 homolog A (S. cerevisiae)|autophagy related 4A, cysteine peptidase" Autophagy related 1022 2001-12-05 2005-09-11 2016-02-23 2023-03-15 115201 ENSG00000101844 OTTHUMG00000022176 uc004enr.4 AJ320508 NM_052936 "CCDS14539|CCDS14538" Q8WYN0 "12446702|12473658" MGI:2147903 RGD:1596915 300663 C54.002 HGNC:16489 "ENST00000372232.8|NM_052936.5" +HGNC:16489 ATG4A autophagy related 4A cysteine peptidase protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "AUTL2|APG4A" "AUT-like 2, cysteine endopeptidase (S. cerevisiae)|APG4 autophagy 4 homolog A (S. cerevisiae)|ATG4 autophagy related 4 homolog A (S. cerevisiae)|autophagy related 4A, cysteine peptidase" Autophagy related 1022 2001-12-05 2005-09-11 2016-02-23 2023-03-15 115201 ENSG00000101844 OTTHUMG00000022176 uc004enr.4 AJ320508 NM_052936 "CCDS14538|CCDS14539" Q8WYN0 "12446702|12473658" MGI:2147903 RGD:1596915 300663 C54.002 HGNC:16489 "ENST00000372232.8|NM_052936.5" HGNC:44081 ATG4AP1 autophagy related 4A cysteine peptidase pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 "ATG4A pseudogene 1|autophagy related 4A, cysteine peptidase pseudogene 1" 2012-06-06 2016-02-23 2016-02-23 106480786 ENSG00000232735 OTTHUMG00000021918 NG_044056 PGOHUM00000241877 HGNC:44081 HGNC:20790 ATG4B autophagy related 4B cysteine peptidase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "Apg4B|KIAA0943|DKFZp586D1822|AUTL1" APG4B "APG4 autophagy 4 homolog B (S. cerevisiae)|ATG4 autophagy related 4 homolog B (S. cerevisiae)|autophagy related 4B, cysteine peptidase" Autophagy related 1022 2004-03-23 2005-09-11 2016-02-23 2023-01-20 23192 ENSG00000168397 OTTHUMG00000151514 uc002wbv.4 AB023160 NM_013325 "CCDS46565|CCDS46564" Q9Y4P1 12446702 MGI:1913865 RGD:1309664 611338 C54.003 objectId:2329 HGNC:20790 "ENST00000404914.8|NM_013325.5" HGNC:16040 ATG4C autophagy related 4C cysteine peptidase protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "FLJ14867|AUTL3" "AUTL1|APG4C" "AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)|APG4 autophagy 4 homolog C (S. cerevisiae)|ATG4 autophagy related 4 homolog C (S. cerevisiae)|autophagy related 4C, cysteine peptidase" Autophagy related 1022 2001-07-13 2005-09-11 2016-02-23 2023-01-20 84938 ENSG00000125703 OTTHUMG00000009142 uc001dat.5 AK027773 NM_032852 CCDS623 Q96DT6 12446702 MGI:2651854 RGD:1598323 611339 C54.004 HGNC:16040 "ENST00000317868.9|NM_032852.4" HGNC:20789 ATG4D autophagy related 4D cysteine peptidase protein-coding gene gene with protein product Approved 19p13.2 19p13.2 APG4-D "AUTL4|APG4D" "AUT-like 4, cysteine endopeptidase (S. cerevisiae)|APG4 autophagy 4 homolog D (S. cerevisiae)|ATG4 autophagy related 4 homolog D (S. cerevisiae)|autophagy related 4D, cysteine peptidase" "Autophagy related|MicroRNA protein coding host genes" "1022|1691" 2003-04-11 2005-09-11 2016-02-23 2023-01-20 84971 ENSG00000130734 OTTHUMG00000180582 uc002mov.5 AJ312332 NM_032885 CCDS12241 Q86TL0 12446702 MGI:2444308 RGD:1596392 611340 C54.005 HGNC:20789 "ENST00000309469.9|NM_032885.6" HGNC:20789 -HGNC:589 ATG5 autophagy related 5 protein-coding gene gene with protein product Approved 6q21 06q21 "ASP|APG5|hAPG5" APG5L "APG5 (autophagy 5, S. cerevisiae)-like|APG5 autophagy 5-like (S. cerevisiae)|ATG5 autophagy related 5 homolog (S. cerevisiae)" Autophagy related 1022 1999-09-16 2005-09-11 2012-06-06 2023-01-20 9474 ENSG00000057663 OTTHUMG00000016193 uc003prf.4 Y11588 NM_004849 "CCDS5055|CCDS69159|CCDS75498" Q9H1Y0 "9563500|11349150|15778222" MGI:1277186 RGD:1359580 604261 HGNC:589 "ENST00000369076.8|NM_004849.4" HGNC:589 -HGNC:16935 ATG7 autophagy related 7 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "GSA7|DKFZp434N0735" ubiquitin-activating enzyme E1-like protein APG7L "APG7 autophagy 7-like (S. cerevisiae)|ATG7 autophagy related 7 homolog (S. cerevisiae)" "Ubiquitin like modifier activating enzymes|Autophagy related" "100|1022" 2003-11-20 2005-09-11 2012-06-06 2023-01-20 10533 ENSG00000197548 OTTHUMG00000129740 uc003bwc.4 AF094516 NM_006395 "CCDS2605|CCDS46753|CCDS46752" O95352 10233149 MGI:1921494 RGD:1304817 608760 HGNC:16935 "ENST00000693202.1|NM_001349232.2" HGNC:16935 +HGNC:589 ATG5 autophagy related 5 protein-coding gene gene with protein product Approved 6q21 06q21 "ASP|APG5|hAPG5" APG5L "APG5 (autophagy 5, S. cerevisiae)-like|APG5 autophagy 5-like (S. cerevisiae)|ATG5 autophagy related 5 homolog (S. cerevisiae)" Autophagy related 1022 1999-09-16 2005-09-11 2012-06-06 2023-01-20 9474 ENSG00000057663 OTTHUMG00000016193 uc003prf.4 Y11588 NM_004849 "CCDS69159|CCDS5055|CCDS75498" Q9H1Y0 "9563500|11349150|15778222" MGI:1277186 RGD:1359580 604261 HGNC:589 "ENST00000369076.8|NM_004849.4" HGNC:589 +HGNC:16935 ATG7 autophagy related 7 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "GSA7|DKFZp434N0735" ubiquitin-activating enzyme E1-like protein APG7L "APG7 autophagy 7-like (S. cerevisiae)|ATG7 autophagy related 7 homolog (S. cerevisiae)" "Ubiquitin like modifier activating enzymes|Autophagy related" "100|1022" 2003-11-20 2005-09-11 2012-06-06 2023-01-20 10533 ENSG00000197548 OTTHUMG00000129740 uc003bwc.4 AF094516 NM_006395 "CCDS46753|CCDS2605|CCDS46752" O95352 10233149 MGI:1921494 RGD:1304817 608760 HGNC:16935 "ENST00000693202.1|NM_001349232.2" HGNC:16935 HGNC:22408 ATG9A autophagy related 9A protein-coding gene gene with protein product Approved 2q35 02q35 FLJ22169 APG9L1 "APG9 autophagy 9-like 1 (S. cerevisiae)|ATG9 autophagy related 9 homolog A (S. cerevisiae)" Autophagy related 1022 2004-11-24 2005-09-11 2012-06-06 2023-01-20 79065 ENSG00000198925 OTTHUMG00000154557 uc002vkf.3 AK021732 NM_024085 CCDS42820 Q7Z3C6 MGI:2138446 RGD:1310450 612204 HGNC:22408 "ENST00000361242.9|NM_001077198.3" HGNC:21899 ATG9B autophagy related 9B protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "FLJ14885|APG9L2|SONE" NOS3AS "nitric oxide synthase 3 antisense|ATG9 autophagy related 9 homolog B (S. cerevisiae)" Autophagy related 1022 2004-11-24 2005-09-11 2012-06-06 2023-01-20 285973 ENSG00000181652 OTTHUMG00000158634 uc064jfp.1 AK027791 NM_173681 CCDS83242 Q674R7 "15234981|15755735" MGI:2685420 RGD:1560887 612205 HGNC:21899 "ENST00000639579.2|NM_001317056.2" HGNC:20315 ATG10 autophagy related 10 protein-coding gene gene with protein product Approved 5q14.1-q14.2 05q14.1-q14.2 "DKFZP586I0418|FLJ13954" APG10L "APG10 autophagy 10-like (S. cerevisiae)|ATG10 autophagy related 10 homolog (S. cerevisiae)" Autophagy related 1022 2003-01-28 2005-09-11 2012-06-06 2023-01-20 83734 ENSG00000152348 OTTHUMG00000119041 uc003khr.5 AK024016 NM_001131028 CCDS4057 Q9H0Y0 MGI:1914045 RGD:1587624 610800 HGNC:20315 "ENST00000282185.8|NM_031482.5" @@ -1847,30 +1847,30 @@ HGNC:41455 ATG10-IT1 ATG10 intronic transcript 1 non-coding RNA RNA, long non-co HGNC:588 ATG12 autophagy related 12 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 APG12 APG12 autophagy 12-like APG12L "Apg12 (autophagy 12, S. cerevisiae)-like|APG12 autophagy 12-like (S. cerevisiae)|ATG12 autophagy related 12 homolog (S. cerevisiae)" Autophagy related 1022 1999-10-01 2005-09-11 2012-06-06 2023-01-20 9140 ENSG00000145782 OTTHUMG00000128889 uc003krh.4 AB017507 NM_004707 "CCDS4122|CCDS64222" O94817 9852036 MGI:1914776 RGD:1306306 609608 HGNC:588 "ENST00000509910.2|NM_004707.4" HGNC:21466 ATG12P1 autophagy related 12 pseudogene 1 pseudogene pseudogene Approved 17q25.1 17q25.1 ATG12P "ATG12 autophagy related 12 homolog (S. cerevisiae) pseudogene|ATG12 autophagy related 12 homolog (S. cerevisiae) pseudogene 1" 2008-01-31 2010-06-29 2012-06-06 2020-04-06 100151642 ENSG00000266501 OTTHUMG00000178319 NG_007656 PGOHUM00000237173 HGNC:21466 HGNC:38605 ATG12P2 autophagy related 12 pseudogene 2 pseudogene pseudogene Approved 2q36.1 02q36.1 ATG12 autophagy related 12 homolog (S. cerevisiae) pseudogene 2 2010-06-29 2012-06-06 2014-11-19 100293948 ENSG00000224121 OTTHUMG00000153389 NG_016651 PGOHUM00000250451 HGNC:38605 -HGNC:29091 ATG13 autophagy related 13 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 KIAA0652 "KIAA0652|ATG13 autophagy related 13 homolog (S. cerevisiae)" Autophagy related 1022 2005-10-28 2010-06-29 2012-06-06 2023-01-20 9776 ENSG00000175224 OTTHUMG00000166538 uc001ncz.4 AB014552 NM_014741 "CCDS55760|CCDS44582|CCDS7921|CCDS55761" O75143 "15169610|18339812|17204848" MGI:1196429 RGD:1310685 615088 HGNC:29091 "ENST00000683050.1|NM_001346311.2" +HGNC:29091 ATG13 autophagy related 13 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 KIAA0652 "KIAA0652|ATG13 autophagy related 13 homolog (S. cerevisiae)" Autophagy related 1022 2005-10-28 2010-06-29 2012-06-06 2023-01-20 9776 ENSG00000175224 OTTHUMG00000166538 uc001ncz.4 AB014552 NM_014741 "CCDS7921|CCDS55760|CCDS55761|CCDS44582" O75143 "15169610|18339812|17204848" MGI:1196429 RGD:1310685 615088 HGNC:29091 "ENST00000683050.1|NM_001346311.2" HGNC:19962 ATG14 autophagy related 14 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 ATG14L "Barkor|beclin 1-associated autophagy-related key regulator" KIAA0831 "KIAA0831|ATG14 autophagy related 14 homolog (S. cerevisiae)" "Autophagy related|PIK3C3 complex subunits" "1022|1596" 2003-11-21 2010-06-29 2012-06-06 2023-01-20 22863 ENSG00000126775 OTTHUMG00000172129 uc001xbx.3 AB020638 NM_014924 CCDS32087 Q6ZNE5 18843052 MGI:1261775 RGD:1304610 613515 HGNC:19962 "ENST00000247178.6|NM_014924.5" -HGNC:21498 ATG16L1 autophagy related 16 like 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "WDR30|FLJ10035|ATG16A" "APG16L|ATG16L" "APG16 autophagy 16-like (S. cerevisiae)|ATG16 autophagy related 16-like (S. cerevisiae)|ATG16 autophagy related 16-like 1 (S. cerevisiae)" "WD repeat domain containing|Autophagy related" "362|1022" 2003-12-22 2005-09-13 2015-11-24 2023-01-20 55054 ENSG00000085978 OTTHUMG00000133619 uc002vty.3 AK000897 NM_017974 "CCDS86927|CCDS54438|CCDS2502|CCDS2503" Q676U5 MGI:1924290 RGD:1310631 610767 235213 HGNC:21498 "ENST00000392017.9|NM_030803.7" +HGNC:21498 ATG16L1 autophagy related 16 like 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "WDR30|FLJ10035|ATG16A" "APG16L|ATG16L" "APG16 autophagy 16-like (S. cerevisiae)|ATG16 autophagy related 16-like (S. cerevisiae)|ATG16 autophagy related 16-like 1 (S. cerevisiae)" "WD repeat domain containing|Autophagy related" "362|1022" 2003-12-22 2005-09-13 2015-11-24 2023-01-20 55054 ENSG00000085978 OTTHUMG00000133619 uc002vty.3 AK000897 NM_017974 "CCDS2503|CCDS2502|CCDS86927|CCDS54438" Q676U5 MGI:1924290 RGD:1310631 610767 235213 HGNC:21498 "ENST00000392017.9|NM_030803.7" HGNC:25464 ATG16L2 autophagy related 16 like 2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FLJ00012|WDR80|ATG16B" "ATG16 autophagy related 16-like 2 (S. cerevisiae)|autophagy related 16-like 2 (S. cerevisiae)" "WD repeat domain containing|Autophagy related" "362|1022" 2005-09-13 2015-11-24 2023-01-20 89849 ENSG00000168010 OTTHUMG00000167961 uc001otd.4 AK024423 NM_033388 CCDS31634 Q8NAA4 11214971 MGI:1920933 RGD:1311400 618716 HGNC:25464 "ENST00000321297.10|NM_033388.2" HGNC:25679 ATG101 autophagy related 101 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 FLJ11773 C12orf44 chromosome 12 open reading frame 44 Autophagy related 1022 2006-01-23 2014-02-12 2014-02-12 2023-01-20 60673 ENSG00000123395 OTTHUMG00000169611 AF218031 NM_021934 CCDS8820 Q9BSB4 "19287211|19597335" MGI:1915368 RGD:1359310 615089 HGNC:25679 "ENST00000336854.9|NM_021934.5" HGNC:794 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase protein-coding gene gene with protein product Approved 2q35 02q35 "PURH|AICARFT|IMPCHASE" phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase Purinosome 1569 1997-05-15 2023-01-20 471 ENSG00000138363 OTTHUMG00000133023 uc002vex.5 NM_004044 CCDS2398 P31939 "8567683|9378707" MGI:1351352 RGD:70879 ATIC 601731 260894 "2.1.2.3|3.5.4.10" HGNC:794 "ENST00000236959.14|NM_004044.7" HGNC:794 -HGNC:11231 ATL1 atlastin GTPase 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "FSP1|AD-FSP" atlastin "SPG3|SPG3A" spastic paraplegia 3A (autosomal dominant) Atlastins 1887 1993-10-28 2008-09-17 2008-09-17 2023-01-20 51062 ENSG00000198513 OTTHUMG00000140297 uc059bjs.1 AF131801 NM_001127713 "CCDS9700|CCDS32077" Q8WXF7 "8252041|7825576" MGI:1921241 RGD:1359232 LRG_360|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_360.xml 606439 119821 HGNC:11231 "ENST00000358385.12|NM_015915.5" HGNC:11231 -HGNC:24047 ATL2 atlastin GTPase 2 protein-coding gene gene with protein product Approved 2p22.2-p22.1 02p22.2-p22.1 atlastin2 Atlastin-2 ARL6IP2 ADP-ribosylation factor-like 6 interacting protein 2 Atlastins 1887 2004-01-21 2008-09-17 2008-09-17 2023-01-20 64225 ENSG00000119787 OTTHUMG00000102074 uc002rqq.4 NM_022374 "CCDS82436|CCDS1795|CCDS86831|CCDS46260|CCDS77402" Q8NHH9 "10508919|18270207|27669642" MGI:1929492 RGD:1305125 609368 HGNC:24047 "ENST00000378954.9|NM_001135673.4" HGNC:24047 -HGNC:24526 ATL3 atlastin GTPase 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 DKFZP564J0863 Atlastins 1887 2008-09-17 2023-01-20 25923 ENSG00000184743 OTTHUMG00000167854 uc001nxk.2 NM_015459 "CCDS73309|CCDS41663" Q6DD88 18270207 MGI:1924270 RGD:1309871 609369 392307 HGNC:24526 "ENST00000398868.8|NM_015459.5" HGNC:24526 -HGNC:795 ATM ATM serine/threonine kinase protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "TEL1|TELO1" TEL1, telomere maintenance 1, homolog (S. cerevisiae) "ATA|ATDC|ATC|ATD" "ataxia telangiectasia mutated (includes complementation groups A, C and D)|ataxia telangiectasia mutated" Armadillo like helical domain containing 1492 1995-07-07 2014-06-17 2023-03-15 472 ENSG00000149311 OTTHUMG00000166480 uc001pkb.1 AB209133 NM_000051 "CCDS86245|CCDS31669" Q13315 MGI:107202 RGD:1593265 "Ataxia Telangiectasia Mutated (ATM)|http://www.LOVD.nl/ATM|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATM|LRG_135|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_135.xml" ATM 607585 121474 objectId:1934 HGNC:795 "ENST00000675843.1|NM_000051.4" HGNC:795 +HGNC:11231 ATL1 atlastin GTPase 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "FSP1|AD-FSP" atlastin "SPG3|SPG3A" spastic paraplegia 3A (autosomal dominant) Atlastins 1887 1993-10-28 2008-09-17 2008-09-17 2023-01-20 51062 ENSG00000198513 OTTHUMG00000140297 uc059bjs.1 AF131801 NM_001127713 "CCDS32077|CCDS9700" Q8WXF7 "8252041|7825576" MGI:1921241 RGD:1359232 LRG_360|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_360.xml 606439 119821 HGNC:11231 "ENST00000358385.12|NM_015915.5" HGNC:11231 +HGNC:24047 ATL2 atlastin GTPase 2 protein-coding gene gene with protein product Approved 2p22.2-p22.1 02p22.2-p22.1 atlastin2 Atlastin-2 ARL6IP2 ADP-ribosylation factor-like 6 interacting protein 2 Atlastins 1887 2004-01-21 2008-09-17 2008-09-17 2023-01-20 64225 ENSG00000119787 OTTHUMG00000102074 uc002rqq.4 NM_022374 "CCDS86831|CCDS1795|CCDS46260|CCDS82436|CCDS77402" Q8NHH9 "10508919|18270207|27669642" MGI:1929492 RGD:1305125 609368 HGNC:24047 "ENST00000378954.9|NM_001135673.4" HGNC:24047 +HGNC:24526 ATL3 atlastin GTPase 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 DKFZP564J0863 Atlastins 1887 2008-09-17 2023-01-20 25923 ENSG00000184743 OTTHUMG00000167854 uc001nxk.2 NM_015459 "CCDS41663|CCDS73309" Q6DD88 18270207 MGI:1924270 RGD:1309871 609369 392307 HGNC:24526 "ENST00000398868.8|NM_015459.5" HGNC:24526 +HGNC:795 ATM ATM serine/threonine kinase protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "TEL1|TELO1" TEL1, telomere maintenance 1, homolog (S. cerevisiae) "ATA|ATDC|ATC|ATD" "ataxia telangiectasia mutated (includes complementation groups A, C and D)|ataxia telangiectasia mutated" Armadillo like helical domain containing 1492 1995-07-07 2014-06-17 2023-03-15 472 ENSG00000149311 OTTHUMG00000166480 uc001pkb.1 AB209133 NM_000051 "CCDS31669|CCDS86245" Q13315 MGI:107202 RGD:1593265 "Ataxia Telangiectasia Mutated (ATM)|http://www.LOVD.nl/ATM|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATM|LRG_135|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_135.xml" ATM 607585 121474 objectId:1934 HGNC:795 "ENST00000675843.1|NM_000051.4" HGNC:795 HGNC:29034 ATMIN ATM interactor protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "ASCIZ|KIAA0431|ZNF822" "ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein|ATM INteracting protein" Zinc fingers C2H2-type 28 2007-12-06 2023-01-20 23300 ENSG00000166454 OTTHUMG00000176469 uc002ffz.2 BC002701 NM_015251 "CCDS32494|CCDS73917" O43313 "15933716|17525732|19001856" MGI:2682328 RGD:1305781 614693 HGNC:29034 "ENST00000299575.5|NM_015251.3" HGNC:3033 ATN1 atrophin 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 B37 "D12S755E|DRPLA" dentatorubral-pallidoluysian atrophy (atrophin-1) Atrophins 2003 1994-04-07 2005-03-17 2005-03-15 2023-01-20 1822 ENSG00000111676 OTTHUMG00000169015 uc001qrw.2 U23851 NM_001940 CCDS31734 P54259 8136826 MGI:104725 RGD:61832 607462 121482 HGNC:3033 "ENST00000396684.3|NM_001940.4" HGNC:3033 HGNC:797 ATOH1 atonal bHLH transcription factor 1 protein-coding gene gene with protein product Approved 4q22.2 04q22.2 "HATH1|MATH-1|Math1|bHLHa14" basic helix-loop-helix family member a14 "atonal homolog 1 (Drosophila)|atonal homolog bHLH transcription factor 1" Basic helix-loop-helix proteins 420 1997-02-27 2015-06-19 2023-01-20 474 ENSG00000172238 OTTHUMG00000130972 uc003hta.2 U61148 NM_005172 CCDS3638 Q92858 "8872459|15711559" MGI:104654 RGD:1565171 601461 HGNC:797 "ENST00000306011.6|NM_005172.2" HGNC:13907 ATOH7 atonal bHLH transcription factor 7 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "Math5|bHLHa13" "atonal homolog 7 (Drosophila)|atonal homolog bHLH transcription factor 7" Basic helix-loop-helix proteins 420 2002-07-05 2015-06-19 2023-01-20 220202 ENSG00000179774 OTTHUMG00000018346 uc001jnq.4 AF418922 NM_145178 CCDS7276 Q8N100 11889557 MGI:1355553 RGD:1304957 609875 298500 HGNC:13907 "ENST00000373673.5|NM_145178.4" HGNC:13907 HGNC:24126 ATOH8 atonal bHLH transcription factor 8 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "HATH6|FLJ14708|bHLHa21" basic helix loop helix transcription factor 6 "atonal homolog 8 (Drosophila)|atonal homolog bHLH transcription factor 8" Basic helix-loop-helix proteins 420 2004-02-11 2015-06-19 2023-01-20 84913 ENSG00000168874 OTTHUMG00000130178 uc002sqn.4 AK074681 NM_032827 CCDS1985 Q96SQ7 12419857 MGI:1918343 RGD:1561512 619820 HGNC:24126 "ENST00000306279.4|NM_032827.7" -HGNC:25609 ATOSA atos homolog A protein-coding gene gene with protein product Approved 15q21.2-q21.3 15q21.2-q21.3 FLJ10980 "KIAA1370|FAM214A" "KIAA1370|family with sequence similarity 214, member A|family with sequence similarity 214 member A" 2005-10-24 2022-07-01 2022-07-01 2023-01-20 56204 ENSG00000047346 OTTHUMG00000172688 uc002acg.6 AB037791 NM_019600 "CCDS45263|CCDS66773" Q32MH5 "10718198|35319107" MGI:2387648 RGD:1310552 620168 HGNC:25609 "ENST00000619572.5|NM_001385016.1" +HGNC:25609 ATOSA atos homolog A protein-coding gene gene with protein product Approved 15q21.2-q21.3 15q21.2-q21.3 FLJ10980 "KIAA1370|FAM214A" "KIAA1370|family with sequence similarity 214, member A|family with sequence similarity 214 member A" 2005-10-24 2022-07-01 2022-07-01 2023-01-20 56204 ENSG00000047346 OTTHUMG00000172688 uc002acg.6 AB037791 NM_019600 "CCDS66773|CCDS45263" Q32MH5 "10718198|35319107" MGI:2387648 RGD:1310552 620168 HGNC:25609 "ENST00000619572.5|NM_001385016.1" HGNC:25666 ATOSB atos homolog B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "FLJ11560|bA182N22.6" "KIAA1539|FAM214B" "KIAA1539|family with sequence similarity 214, member B|family with sequence similarity 214 member B" 2004-02-13 2022-07-01 2022-07-01 2023-01-20 80256 ENSG00000005238 OTTHUMG00000019847 uc064swj.1 AB040972 NM_025182 CCDS6578 Q7L5A3 "10819331|35319107" MGI:2441854 RGD:1311249 620169 HGNC:25666 "ENST00000322813.10|NM_025182.4" HGNC:54597 ATOSBP1 ATOSB pseudogene 1 pseudogene pseudogene Approved 3q13.31 03q13.31 FAM214BP1 FAM214B pseudogene 1 2019-10-16 2022-07-01 2022-07-01 2022-07-01 645180 ENSG00000240487 OTTHUMG00000159330 NG_022216 PGOHUM00000299140 HGNC:798 ATOX1 antioxidant 1 copper chaperone protein-coding gene gene with protein product Approved 5q33.1 05q33.1 HAH1 "ATX1 (antioxidant protein 1, yeast) homolog 1|ATX1 antioxidant protein 1 homolog (yeast)" 1997-07-22 2013-05-01 2023-01-20 475 ENSG00000177556 OTTHUMG00000163499 uc003luk.4 U70660 NM_004045 CCDS47317 O00244 9083055 MGI:1333855 RGD:621684 602270 HGNC:798 "ENST00000313115.11|NM_004045.4" HGNC:55528 ATOX1-AS1 ATOX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q33.1 05q33.1 Antisense RNAs 1987 2021-03-22 2021-03-22 105378235 ENSG00000253921 XR_007059008 -HGNC:799 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "sodium/potassium-transporting ATPase subunit alpha-1|sodium pump subunit alpha-1|sodium-potassium ATPase catalytic subunit alpha-1" ATPase, Na+/K+ transporting, alpha 1 polypeptide ATPase Na+/K+ transporting subunits 1208 1988-05-11 2016-02-10 2023-01-20 476 ENSG00000163399 OTTHUMG00000012109 uc001ege.5 D00099 NM_001160233 "CCDS53351|CCDS887|CCDS53352" P05023 MGI:88105 RGD:2167 ATP1A1 182310 366774 objectId:833 3.6.3.9 HGNC:799 "ENST00000295598.10|NM_000701.8" HGNC:799 +HGNC:799 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "sodium/potassium-transporting ATPase subunit alpha-1|sodium pump subunit alpha-1|sodium-potassium ATPase catalytic subunit alpha-1" ATPase, Na+/K+ transporting, alpha 1 polypeptide ATPase Na+/K+ transporting subunits 1208 1988-05-11 2016-02-10 2023-01-20 476 ENSG00000163399 OTTHUMG00000012109 uc001ege.5 D00099 NM_001160233 "CCDS53351|CCDS53352|CCDS887" P05023 MGI:88105 RGD:2167 ATP1A1 182310 366774 objectId:833 3.6.3.9 HGNC:799 "ENST00000295598.10|NM_000701.8" HGNC:799 HGNC:28262 ATP1A1-AS1 ATP1A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.1 01p13.1 MGC16179 "C1orf203|ATP1A1OS" "chromosome 1 open reading frame 203|ATP1A1 opposite strand" Antisense RNAs 1987 2005-11-17 2014-03-31 2014-03-31 2014-11-19 84852 ENSG00000203865 OTTHUMG00000012111 BC007373 NR_024124 Q5TC04 12477932 618305 ATP1A1-AS1 HGNC:28262 HGNC:800 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 FHM2 "sodium/potassium-transporting ATPase subunit alpha-2|sodium pump subunit alpha-2|sodium-potassium ATPase catalytic subunit alpha-2" MHP2 "migraine, hemiplegic 2|ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide|ATPase, Na+/K+ transporting, alpha 2 polypeptide" ATPase Na+/K+ transporting subunits 1208 1988-05-11 2016-02-10 2023-01-20 477 ENSG00000018625 OTTHUMG00000024080 uc001fvc.4 AB018321 NM_000702 CCDS1196 P50993 9403481 MGI:88106 RGD:2168 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP1A2|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP1A2|LRG_6|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_6.xml" 182340 121497 objectId:834 3.6.3.9 HGNC:800 "ENST00000361216.8|NM_000702.4" HGNC:800 -HGNC:801 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "sodium/potassium-transporting ATPase subunit alpha-3|sodium pump subunit alpha-3|sodium-potassium ATPase catalytic subunit alpha-3" DYT12 "dystonia 12|ATPase, Na+/K+ transporting, alpha 3 polypeptide" ATPase Na+/K+ transporting subunits 1208 1986-01-01 2016-02-10 2023-01-20 478 ENSG00000105409 OTTHUMG00000137384 uc010xwh.4 NM_152296 "CCDS12594|CCDS58663|CCDS58664" P13637 17282997 MGI:88107 RGD:2169 LRG_1186|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1186.xml 182350 121501 objectId:835 3.6.3.9 HGNC:801 "ENST00000648268.1|NM_152296.5" HGNC:801 +HGNC:801 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "sodium/potassium-transporting ATPase subunit alpha-3|sodium pump subunit alpha-3|sodium-potassium ATPase catalytic subunit alpha-3" DYT12 "dystonia 12|ATPase, Na+/K+ transporting, alpha 3 polypeptide" ATPase Na+/K+ transporting subunits 1208 1986-01-01 2016-02-10 2023-01-20 478 ENSG00000105409 OTTHUMG00000137384 uc010xwh.4 NM_152296 "CCDS58664|CCDS12594|CCDS58663" P13637 17282997 MGI:88107 RGD:2169 LRG_1186|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1186.xml 182350 121501 objectId:835 3.6.3.9 HGNC:801 "ENST00000648268.1|NM_152296.5" HGNC:801 HGNC:14073 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "sodium/potassium-transporting ATPase subunit alpha-4|sodium pump subunit alpha-4|sodium-potassium ATPase catalytic subunit alpha-4" ATP1AL2 "ATPase, Na+/K+ transporting, alpha polypeptide-like 2|ATPase, Na+/K+ transporting, alpha 4 polypeptide" ATPase Na+/K+ transporting subunits 1208 2000-11-28 2016-02-10 2023-01-20 480 ENSG00000132681 OTTHUMG00000031609 uc001fve.5 BC028297 NM_144699 "CCDS1197|CCDS44255" Q13733 "1981991|3035563" MGI:1351335 RGD:61952 607321 objectId:836 HGNC:14073 "ENST00000368081.9|NM_144699.4" HGNC:804 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "sodium/potassium-transporting ATPase subunit beta-1|sodium pump subunit beta-1|sodium-potassium ATPase subunit beta 1 (non-catalytic)" ATP1B ATPase, Na+/K+ transporting, beta 1 polypeptide ATPase Na+/K+ transporting subunits 1208 1986-01-01 2016-02-10 2023-01-20 481 ENSG00000143153 OTTHUMG00000034590 uc001gfr.2 U16799 NM_001677 CCDS1276 P05026 MGI:88108 RGD:2170 182330 objectId:837 HGNC:804 "ENST00000367815.9|NM_001677.4" HGNC:809 ATP1B1P1 ATPase Na+/K+ transporting subunit beta 1 pseudogene 1 pseudogene pseudogene Approved 4p13 04p13 ATP1BL1 "ATPase, Na+/K+ transporting, beta polypeptide-like 1|ATPase, Na+/K+ transporting, beta 1 polypeptide pseudogene 1" 1988-08-12 2010-03-24 2016-02-10 2016-02-10 485 ENSG00000249212 OTTHUMG00000160530 M25159 NG_001081 "2559024|2842249" PGOHUM00000245890 HGNC:809 @@ -1878,24 +1878,24 @@ HGNC:805 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 protein-coding gene ge HGNC:806 ATP1B3 ATPase Na+/K+ transporting subunit beta 3 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ29027|CD298" "sodium/potassium-transporting ATPase subunit beta-3|sodium pump subunit beta-3|sodium-potassium ATPase subunit beta 3 (non-catalytic)" ATPase, Na+/K+ transporting, beta 3 polypeptide "CD molecules|ATPase Na+/K+ transporting subunits" "471|1208" 1997-06-18 2016-02-10 2023-01-20 483 ENSG00000069849 OTTHUMG00000159081 uc003eug.2 BC011835 NM_001679 CCDS3121 P54709 "8798450|9457675" MGI:107788 RGD:2172 601867 objectId:839 CD298 HGNC:806 "ENST00000286371.8|NM_001679.4" HGNC:40088 ATP1B3-AS1 ATP1B3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 ATP1B3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874077 ENSG00000244124 OTTHUMG00000159102 uc062omw.1 ATP1B3-AS1 HGNC:807 ATP1B3P1 ATPase Na+/K+ transporting subunit beta 3 pseudogene 1 pseudogene pseudogene Approved 2p16.1 02p16.1 ATPase, Na+/K+ transporting, beta 3 pseudogene 1997-07-25 2016-02-10 2016-08-01 484 ENSG00000271707 OTTHUMG00000184452 AF005898 NG_000849 9457675 PGOHUM00000297875 HGNC:807 -HGNC:808 ATP1B4 ATPase Na+/K+ transporting family member beta 4 protein-coding gene gene with protein product Approved Xq24 Xq24 "Na,K-ATPase beta m-subunit|BetaM" "ATPase, (Na+)/K+ transporting, beta 4 polypeptide|ATPase, Na+/K+ transporting, beta 4 polypeptide" 2000-08-22 2016-02-10 2023-01-20 23439 ENSG00000101892 OTTHUMG00000022299 uc004esq.4 AF158383 NM_001142447 "CCDS14598|CCDS48158" Q9UN42 "10456317|17592128|21855530" MGI:1915071 RGD:620994 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP1B4 301073 HGNC:808 "ENST00000218008.8|NM_001142447.3" -HGNC:811 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 SERCA1 "sarcoplasmic/endoplasmic reticulum calcium ATPase 1|calcium pump 1" ATP2A ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ATPases Ca2+ transporting 1209 1990-09-10 2016-02-10 2023-01-20 487 ENSG00000196296 OTTHUMG00000131760 uc002drn.1 NM_004320 "CCDS66997|CCDS42139|CCDS10643" O14983 MGI:105058 RGD:621293 108730 118840 objectId:840 3.6.3.8 HGNC:811 "ENST00000395503.9|NM_004320.6" HGNC:811 +HGNC:808 ATP1B4 ATPase Na+/K+ transporting family member beta 4 protein-coding gene gene with protein product Approved Xq24 Xq24 "Na,K-ATPase beta m-subunit|BetaM" "ATPase, (Na+)/K+ transporting, beta 4 polypeptide|ATPase, Na+/K+ transporting, beta 4 polypeptide" 2000-08-22 2016-02-10 2023-01-20 23439 ENSG00000101892 OTTHUMG00000022299 uc004esq.4 AF158383 NM_001142447 "CCDS48158|CCDS14598" Q9UN42 "10456317|17592128|21855530" MGI:1915071 RGD:620994 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP1B4 301073 HGNC:808 "ENST00000218008.8|NM_001142447.3" +HGNC:811 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 SERCA1 "sarcoplasmic/endoplasmic reticulum calcium ATPase 1|calcium pump 1" ATP2A ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ATPases Ca2+ transporting 1209 1990-09-10 2016-02-10 2023-01-20 487 ENSG00000196296 OTTHUMG00000131760 uc002drn.1 NM_004320 "CCDS10643|CCDS66997|CCDS42139" O14983 MGI:105058 RGD:621293 108730 118840 objectId:840 3.6.3.8 HGNC:811 "ENST00000395503.9|NM_004320.6" HGNC:811 HGNC:51370 ATP2A1-AS1 ATP2A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Antisense RNAs 1987 2014-10-16 2014-10-16 100289092 ENSG00000260442 OTTHUMG00000176592 "BX099641|AI015924" NR_046287 ATP2A1-AS1 HGNC:51370 -HGNC:812 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 SERCA2 "sarcoplasmic/endoplasmic reticulum calcium ATPase 2|calcium pump 2" "ATP2B|DAR" ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ATPases Ca2+ transporting 1209 1990-09-10 2016-02-10 2023-03-15 488 ENSG00000174437 OTTHUMG00000169327 uc001tqk.5 NM_001681 "CCDS9143|CCDS9144" P16615 10080178 MGI:88110 RGD:2174 108740 118844 objectId:841 3.6.3.8 HGNC:812 "ENST00000539276.7|NM_170665.4" HGNC:812 -HGNC:813 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 SERCA3 "sarcoplasmic/endoplasmic reticulum calcium ATPase 3|calcium pump 3" ATPase, Ca++ transporting, ubiquitous ATPases Ca2+ transporting 1209 1992-07-20 2016-02-10 2023-01-20 489 ENSG00000074370 OTTHUMG00000177674 uc002fxc.3 NM_174953 "CCDS45580|CCDS11042|CCDS11041|CCDS42234|CCDS45579" Q93084 8809064 MGI:1194503 RGD:2175 601929 objectId:842 3.6.3.8 HGNC:813 "ENST00000397041.8|NM_005173.4" -HGNC:814 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 PMCA1 plasma membrane calcium-transporting ATPase 1 ATPase, Ca++ transporting, plasma membrane 1 ATPases Ca2+ transporting 1209 1990-10-05 2016-02-10 2023-01-20 490 ENSG00000070961 OTTHUMG00000169946 uc058rpj.1 J04027 NM_001682 "CCDS9035|CCDS91736|CCDS41817" P20020 1674727 MGI:104653 RGD:621303 108731 objectId:843 3.6.3.8 HGNC:814 "ENST00000428670.8|NM_001366521.1" +HGNC:812 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 SERCA2 "sarcoplasmic/endoplasmic reticulum calcium ATPase 2|calcium pump 2" "ATP2B|DAR" ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ATPases Ca2+ transporting 1209 1990-09-10 2016-02-10 2023-03-15 488 ENSG00000174437 OTTHUMG00000169327 uc001tqk.5 NM_001681 "CCDS9144|CCDS9143" P16615 10080178 MGI:88110 RGD:2174 108740 118844 objectId:841 3.6.3.8 HGNC:812 "ENST00000539276.7|NM_170665.4" HGNC:812 +HGNC:813 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 SERCA3 "sarcoplasmic/endoplasmic reticulum calcium ATPase 3|calcium pump 3" ATPase, Ca++ transporting, ubiquitous ATPases Ca2+ transporting 1209 1992-07-20 2016-02-10 2023-01-20 489 ENSG00000074370 OTTHUMG00000177674 uc002fxc.3 NM_174953 "CCDS11041|CCDS42234|CCDS45579|CCDS45580|CCDS11042" Q93084 8809064 MGI:1194503 RGD:2175 601929 objectId:842 3.6.3.8 HGNC:813 "ENST00000397041.8|NM_005173.4" +HGNC:814 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 PMCA1 plasma membrane calcium-transporting ATPase 1 ATPase, Ca++ transporting, plasma membrane 1 ATPases Ca2+ transporting 1209 1990-10-05 2016-02-10 2023-01-20 490 ENSG00000070961 OTTHUMG00000169946 uc058rpj.1 J04027 NM_001682 "CCDS91736|CCDS41817|CCDS9035" P20020 1674727 MGI:104653 RGD:621303 108731 objectId:843 3.6.3.8 HGNC:814 "ENST00000428670.8|NM_001366521.1" HGNC:27883 ATP2B1-AS1 ATP2B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 LINC00936 long intergenic non-protein coding RNA 936 Antisense RNAs 1987 2013-05-30 2016-11-11 2016-11-11 2016-11-11 338758 ENSG00000271614 OTTHUMG00000169947 NR_028138 12477932 HGNC:27883 -HGNC:815 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 PMCA2 "plasma membrane Ca2+ pump 2|plasma membrane calcium-transporting ATPase 2" ATPase, Ca++ transporting, plasma membrane 2 "ATPases Ca2+ transporting|MicroRNA protein coding host genes" "1209|1691" 1992-06-26 2016-02-10 2023-01-20 491 ENSG00000157087 OTTHUMG00000128679 uc003bvw.3 X63575 NM_001683 "CCDS2601|CCDS33701|CCDS87040|CCDS82733" Q01814 1313367 MGI:105368 RGD:2176 108733 447183 objectId:844 3.6.3.8 HGNC:815 "ENST00000360273.7|NM_001001331.4" HGNC:815 -HGNC:41309 ATP2B2-IT1 ATP2B2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 ATP2B2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874324 ENSG00000236999 OTTHUMG00000140094 uc062gsp.1 ATP2B2-IT1 +HGNC:815 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 PMCA2 "plasma membrane Ca2+ pump 2|plasma membrane calcium-transporting ATPase 2" ATPase, Ca++ transporting, plasma membrane 2 "ATPases Ca2+ transporting|MicroRNA protein coding host genes" "1209|1691" 1992-06-26 2016-02-10 2023-01-20 491 ENSG00000157087 OTTHUMG00000128679 uc003bvw.3 X63575 NM_001683 "CCDS33701|CCDS2601|CCDS87040|CCDS82733" Q01814 1313367 MGI:105368 RGD:2176 108733 447183 objectId:844 3.6.3.8 HGNC:815 "ENST00000360273.7|NM_001001331.4" HGNC:815 +HGNC:41309 ATP2B2-IT1 ATP2B2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 ATP2B2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874324 ENSG00000236999 OTTHUMG00000140094 uc062gsp.1 NR_046765 ATP2B2-IT1 HGNC:41310 ATP2B2-IT2 ATP2B2 intronic transcript 2 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 ATP2B2 intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874325 ENSG00000224771 OTTHUMG00000140095 uc062gsq.1 NR_046766 ATP2B2-IT2 HGNC:41310 -HGNC:816 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "PMCA3|CFAP39" "plasma membrane calcium-transporting ATPase 3|cilia and flagella associated protein 39" "SCAX1|CLA2" "spinocerebellar ataxia, X-linked 1|cerebellar ataxia 2 (X-linked)|ATPase, Ca++ transporting, plasma membrane 3" "ATPases Ca2+ transporting|Cilia and flagella associated" "1209|1491" 1992-07-10 2016-02-10 2023-01-20 492 ENSG00000067842 OTTHUMG00000024202 uc065btp.1 U60414 NM_021949 "CCDS35440|CCDS14722|CCDS94697" Q16720 "8187550|22912398" MGI:1347353 RGD:621304 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP2B3 ATP2B3 300014 311398 objectId:845 3.6.3.8 HGNC:816 "ENST00000263519.5|NM_001001344.3" HGNC:816 -HGNC:817 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 PMCA4 plasma membrane calcium-transporting ATPase 4 "ATP2B2|MXRA1" "matrix-remodelling associated 1|ATPase, Ca++ transporting, plasma membrane 4" "ATPases Ca2+ transporting|Small nucleolar RNA protein coding host genes" "1209|1835" 1990-10-05 2016-02-10 2023-01-20 493 ENSG00000058668 OTTHUMG00000035906 uc001gzw.4 M25874 NM_001001396 "CCDS1440|CCDS30977" P23634 1674727 MGI:88111 RGD:621305 108732 objectId:846 3.6.3.8 HGNC:817 "ENST00000357681.10|NM_001684.5" -HGNC:13211 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "KIAA1347|ATP2C1A|PMR1|SPCA1" "secretory pathway Ca2+/Mn2+ ATPase 1|calcium-transporting ATPase type 2C member 1" BCPM "benign chronic pemphigus (Hailey-Hailey disease)|ATPase, Ca++ transporting, type 2C, member 1" ATPases Ca2+ transporting 1209 2000-09-19 2016-02-10 2023-01-20 27032 ENSG00000017260 OTTHUMG00000136802 uc003ens.4 AF181120 NM_001001486 "CCDS56278|CCDS46914|CCDS56279|CCDS75006|CCDS33856|CCDS46912|CCDS46913|CCDS56280|CCDS56281" P98194 "10615129|10767338" MGI:1889008 RGD:621311 604384 118849 objectId:847 3.6.3.8 HGNC:13211 "ENST00000510168.6|NM_001378687.1" HGNC:13211 +HGNC:816 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "PMCA3|CFAP39" "plasma membrane calcium-transporting ATPase 3|cilia and flagella associated protein 39" "SCAX1|CLA2" "spinocerebellar ataxia, X-linked 1|cerebellar ataxia 2 (X-linked)|ATPase, Ca++ transporting, plasma membrane 3" "ATPases Ca2+ transporting|Cilia and flagella associated" "1209|1491" 1992-07-10 2016-02-10 2023-01-20 492 ENSG00000067842 OTTHUMG00000024202 uc065btp.1 U60414 NM_021949 "CCDS94697|CCDS35440|CCDS14722" Q16720 "8187550|22912398" MGI:1347353 RGD:621304 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP2B3 ATP2B3 300014 311398 objectId:845 3.6.3.8 HGNC:816 "ENST00000263519.5|NM_001001344.3" HGNC:816 +HGNC:817 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 PMCA4 plasma membrane calcium-transporting ATPase 4 "ATP2B2|MXRA1" "matrix-remodelling associated 1|ATPase, Ca++ transporting, plasma membrane 4" "ATPases Ca2+ transporting|Small nucleolar RNA protein coding host genes" "1209|1835" 1990-10-05 2016-02-10 2023-01-20 493 ENSG00000058668 OTTHUMG00000035906 uc001gzw.4 M25874 NM_001001396 "CCDS30977|CCDS1440" P23634 1674727 MGI:88111 RGD:621305 108732 objectId:846 3.6.3.8 HGNC:817 "ENST00000357681.10|NM_001684.5" +HGNC:13211 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "KIAA1347|ATP2C1A|PMR1|SPCA1" "secretory pathway Ca2+/Mn2+ ATPase 1|calcium-transporting ATPase type 2C member 1" BCPM "benign chronic pemphigus (Hailey-Hailey disease)|ATPase, Ca++ transporting, type 2C, member 1" ATPases Ca2+ transporting 1209 2000-09-19 2016-02-10 2023-01-20 27032 ENSG00000017260 OTTHUMG00000136802 uc003ens.4 AF181120 NM_001001486 "CCDS46912|CCDS46913|CCDS33856|CCDS56280|CCDS56278|CCDS75006|CCDS56281|CCDS56279|CCDS46914" P98194 "10615129|10767338" MGI:1889008 RGD:621311 604384 118849 objectId:847 3.6.3.8 HGNC:13211 "ENST00000510168.6|NM_001378687.1" HGNC:13211 HGNC:29103 ATP2C2 ATPase secretory pathway Ca2+ transporting 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "KIAA0703|SPCA2" secretory pathway calcium ATPase 2 ATPase, Ca++ transporting, type 2C, member 2 ATPases Ca2+ transporting 1209 2006-10-20 2016-02-10 2023-01-20 9914 ENSG00000064270 OTTHUMG00000176737 uc002fhx.4 AK091051 NM_014861 "CCDS67088|CCDS42207" O75185 9734811 MGI:1916297 RGD:620647 613082 objectId:848 3.6.3.8 HGNC:29103 "ENST00000262429.9|NM_014861.4" HGNC:53167 ATP2C2-AS1 ATP2C2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 "RP11-517C16.2-001|RP11-517C16.2" Antisense RNAs 1987 2017-03-10 2018-06-15 105371374 ENSG00000261286 OTTHUMG00000176738 NR_146503 "28265570|29712923" HGNC:53167 HGNC:819 ATP4A ATPase H+/K+ transporting subunit alpha protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ATP6A "gastric H,K-ATPase alpha subunit|H(+)-K(+)-ATPase alpha subunit|proton pump" "ATPase, H+/K+ exchanging, alpha polypeptide|ATPase H+/K+ transporting alpha subunit" ATPase H+/K+ transporting 1211 1990-09-10 2018-04-23 2023-01-20 495 ENSG00000105675 OTTHUMG00000048106 uc002oal.2 NM_000704 CCDS12467 P20648 1330887 MGI:88113 RGD:2177 137216 467238 objectId:849 3.6.3.10 HGNC:819 "ENST00000262623.4|NM_000704.3" HGNC:819 HGNC:820 ATP4B ATPase H+/K+ transporting subunit beta protein-coding gene gene with protein product Approved 13q34 13q34 ATP6B "ATPase, H+/K+ exchanging, beta polypeptide|ATPase H+/K+ transporting beta subunit" ATPase H+/K+ transporting 1211 1992-11-26 2018-04-23 2023-01-20 496 ENSG00000186009 OTTHUMG00000140234 uc001vtz.5 NM_000705 CCDS9539 P51164 "1330887|15057823" MGI:88114 RGD:2178 137217 objectId:851 3.6.3.10 HGNC:820 "ENST00000335288.5|NM_000705.4" -HGNC:823 ATP5F1A ATP synthase F1 subunit alpha protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "ATP5A|hATP1|OMR|ORM" "ATP5AL2|ATPM|ATP5A1" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle" "Mitochondrial complex V: ATP synthase subunits|ATPase F1/V1 alpha/A and beta/B subunit family" "644|2053" 1993-02-25 2017-11-22 2017-11-22 2023-01-20 498 ENSG00000152234 OTTHUMG00000132637 uc002lbt.1 D14710 NM_004046 "CCDS58620|CCDS59315|CCDS11927" P25705 1830491 MGI:88115 RGD:619993 164360 353576 objectId:796 7.1.2.2 HGNC:823 "ENST00000398752.11|NM_004046.6" HGNC:823 +HGNC:823 ATP5F1A ATP synthase F1 subunit alpha protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "ATP5A|hATP1|OMR|ORM" "ATP5AL2|ATPM|ATP5A1" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle" "Mitochondrial complex V: ATP synthase subunits|ATPase F1/V1 alpha/A and beta/B subunit family" "644|2053" 1993-02-25 2017-11-22 2017-11-22 2023-01-20 498 ENSG00000152234 OTTHUMG00000132637 uc002lbt.1 D14710 NM_004046 "CCDS11927|CCDS59315|CCDS58620" P25705 1830491 MGI:88115 RGD:619993 164360 353576 objectId:796 7.1.2.2 HGNC:823 "ENST00000398752.11|NM_004046.6" HGNC:823 HGNC:827 ATP5F1AP1 ATP synthase F1 subunit alpha pseudogene 1 pseudogene pseudogene Approved 9p11.1 09p11.1 "ATP5AP1|ATP5A1P5|ATP5AL1|ATP5A1P6|ATP5A1P1" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 1|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle-like 1|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle-like 1|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle-like 1 pseudogene|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 6|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 1" 1997-05-22 2017-11-22 2017-11-22 2020-04-20 442416 ENSG00000234861 OTTHUMG00000066804 NG_016580 9284928 PGOHUM00000303835 HGNC:827 HGNC:828 ATP5F1AP2 ATP synthase F1 subunit alpha pseudogene 2 pseudogene pseudogene Approved 2q24.1 02q24.1 "ATP5AP2|ATP5A1P2" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 2|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2" 1997-05-22 2017-11-22 2017-11-22 2017-11-22 504 ENSG00000227682 OTTHUMG00000153811 NG_008671 9284928 HGNC:828 HGNC:829 ATP5F1AP3 ATP synthase F1 subunit alpha pseudogene 3 pseudogene pseudogene Approved 16q22.2 16q22.2 "ATP5AP3|ATP5A1P3" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 3|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3" 1997-05-22 2017-11-22 2017-11-22 2020-04-20 645443 ENSG00000263232 OTTHUMG00000178102 NG_008672 9284928 PGOHUM00000293654 HGNC:829 @@ -1905,13 +1905,13 @@ HGNC:37666 ATP5F1AP8 ATP synthase F1 subunit alpha pseudogene 8 pseudogene pseud HGNC:37668 ATP5F1AP10 ATP synthase F1 subunit alpha pseudogene 10 pseudogene pseudogene Approved 9q21.11 09q21.11 ATP5A1P10 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10 2009-12-17 2017-11-22 2017-11-22 2017-11-22 100132619 ENSG00000277297 OTTHUMG00000188568 NG_028188 PGOHUM00000304300 HGNC:37668 HGNC:830 ATP5F1B ATP synthase F1 subunit beta protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "ATPSB|ATP5B" ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide "Mitochondrial complex V: ATP synthase subunits|Small nucleolar RNA protein coding host genes|ATPase F1/V1 alpha/A and beta/B subunit family" "644|1835|2053" 1989-06-30 2017-11-22 2017-11-22 2023-01-20 506 ENSG00000110955 OTTHUMG00000170291 uc001slr.4 M27132 NM_001686 CCDS8924 P06576 2687158 MGI:107801 RGD:621368 102910 objectId:797 HGNC:830 "ENST00000262030.8|NM_001686.4" HGNC:831 ATP5F1BP1 ATP synthase F1 subunit beta pseudogene 1 pseudogene pseudogene Approved 2q11.2 02q11.2 ATPMBL1 "ATPSBL1|ATP5BL1|ATP5BP1" "ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 1|ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1" 1989-06-30 2017-11-22 2017-11-22 2017-11-22 507 ENSG00000231635 OTTHUMG00000153103 NG_021261 7798271 PGOHUM00000240812 HGNC:831 -HGNC:833 ATP5F1C ATP synthase F1 subunit gamma protein-coding gene gene with protein product Approved 10p14 10p14 "ATP5CL1|ATP5C|ATP5C1" ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2023-01-20 509 ENSG00000165629 OTTHUMG00000017639 uc001ijv.4 D16561 NM_005174 "CCDS7081|CCDS31142" P36542 "8168843|8227057" MGI:1261437 RGD:620011 108729 objectId:798 HGNC:833 "ENST00000356708.12|NM_001001973.3" +HGNC:833 ATP5F1C ATP synthase F1 subunit gamma protein-coding gene gene with protein product Approved 10p14 10p14 "ATP5CL1|ATP5C|ATP5C1" ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2023-01-20 509 ENSG00000165629 OTTHUMG00000017639 uc001ijv.4 D16561 NM_005174 "CCDS31142|CCDS7081" P36542 "8168843|8227057" MGI:1261437 RGD:620011 108729 objectId:798 HGNC:833 "ENST00000356708.12|NM_001001973.3" HGNC:834 ATP5F1CP1 ATP synthase F1 subunit gamma pseudogene 1 pseudogene pseudogene Approved 14q22.2 14q22.2 "ATP5CL2|ATP5C2|ATP5C1P1" "ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 2|ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1" 1993-09-20 2017-11-22 2017-11-22 2017-11-22 645560 ENSG00000224004 OTTHUMG00000029710 NG_004656 8168843 PGOHUM00000247803 HGNC:834 HGNC:837 ATP5F1D ATP synthase F1 subunit delta protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2023-01-20 513 ENSG00000099624 OTTHUMG00000180143 uc002lrn.4 X63423 NM_001687 CCDS12058 P30049 1531933 MGI:1913293 RGD:621372 603150 objectId:799 HGNC:837 "ENST00000215375.7|NM_001687.5" HGNC:837 HGNC:838 ATP5F1E ATP synthase F1 subunit epsilon protein-coding gene gene with protein product Approved 20q13.32 20q13.32 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2023-01-20 514 ENSG00000124172 OTTHUMG00000032854 uc002yal.4 AF077045 NM_001001977 CCDS13476 P56381 10727396 MGI:1855697 RGD:621374 606153 267365 objectId:800 HGNC:838 "ENST00000243997.8|NM_006886.4" HGNC:838 HGNC:839 ATP5F1EP1 ATP synthase F1 subunit epsilon pseudogene 1 pseudogene pseudogene Approved 4q24 04q24 ATP5EP1 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1 1999-09-07 2017-11-22 2017-11-22 2017-11-22 23744 ENSG00000250922 OTTHUMG00000161055 AF277095 NG_002691 10727396 HGNC:839 HGNC:34026 ATP5F1EP2 ATP synthase F1 subunit epsilon pseudogene 2 pseudogene pseudogene Approved 13q12.2 13q12.2 ATP5EP2 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 2008-03-17 2017-11-22 2017-11-22 2023-05-22 432369 ENSG00000180389 OTTHUMG00000016642 uc001uru.4 EC567419 NG_053163 Q5VTU8 MGI:1855697 HGNC:34026 -HGNC:871 ATP5IF1 ATP synthase inhibitory factor subunit 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "ATPI|IP|ATPIP|MGC1167|MGC8898" "ATPase inhibitor protein|ATP synthase inhibitor protein" ATPIF1 ATPase inhibitory factor 1 Mitochondrial complex V: ATP synthase subunits 644 2000-02-29 2017-11-22 2017-11-22 2023-01-20 93974 ENSG00000130770 OTTHUMG00000003533 uc001bpq.4 AL050386 NM_016311 "CCDS44096|CCDS319|CCDS320" Q9UII2 "10664857|19559621" MGI:1196457 RGD:2181 614981 HGNC:871 "ENST00000335514.10|NM_016311.5" +HGNC:871 ATP5IF1 ATP synthase inhibitory factor subunit 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "ATPI|IP|ATPIP|MGC1167|MGC8898" "ATPase inhibitor protein|ATP synthase inhibitor protein" ATPIF1 ATPase inhibitory factor 1 Mitochondrial complex V: ATP synthase subunits 644 2000-02-29 2017-11-22 2017-11-22 2023-01-20 93974 ENSG00000130770 OTTHUMG00000003533 uc001bpq.4 AL050386 NM_016311 "CCDS320|CCDS44096|CCDS319" Q9UII2 "10664857|19559621" MGI:1196457 RGD:2181 614981 HGNC:871 "ENST00000335514.10|NM_016311.5" HGNC:841 ATP5MC1 ATP synthase membrane subunit c locus 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "ATP synthase subunit 9|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit" "ATP5G|ATP5G1" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9)" Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2023-01-20 516 ENSG00000159199 OTTHUMG00000160520 uc002ioh.4 D13118 NM_005175 CCDS11539 P05496 8328972 MGI:107653 RGD:61933 603192 objectId:803 HGNC:841 "ENST00000393366.7|NM_005175.3" HGNC:19815 ATP5MC1P1 ATP synthase membrane subunit c locus 1 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 "ATP5GP3|ATP5G1P1" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 3|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 1" 2003-01-13 2017-11-22 2017-11-22 2017-11-22 319136 ENSG00000230157 OTTHUMG00000152474 NG_002514 PGOHUM00000247902 HGNC:19815 HGNC:19817 ATP5MC1P2 ATP synthase membrane subunit c locus 1 pseudogene 2 pseudogene pseudogene Approved 14q12 14q12 "ATP5GP4|ATP5G1P2" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 4|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9) pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 2" 2003-01-13 2017-11-22 2017-11-22 2020-04-07 319137 ENSG00000283016 OTTHUMG00000191501 NG_002515 PGOHUM00000247757 HGNC:19817 @@ -1921,7 +1921,7 @@ HGNC:39508 ATP5MC1P5 ATP synthase membrane subunit c locus 1 pseudogene 5 pseudo HGNC:39509 ATP5MC1P6 ATP synthase membrane subunit c locus 1 pseudogene 6 pseudogene pseudogene Approved 18q21.33 18q21.33 ATP5G1P6 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 6|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 6" 2011-02-01 2017-11-22 2017-11-22 2017-11-22 100505704 ENSG00000214318 OTTHUMG00000141308 NG_028974 PGOHUM00000235086 HGNC:39509 HGNC:39510 ATP5MC1P7 ATP synthase membrane subunit c locus 1 pseudogene 7 pseudogene pseudogene Approved 10q22.1 10q22.1 ATP5G1P7 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 7|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 7" 2011-02-01 2017-11-22 2017-11-22 2017-11-22 100130962 ENSG00000232734 OTTHUMG00000018379 NG_028965 PGOHUM00000238516 HGNC:39510 HGNC:39511 ATP5MC1P8 ATP synthase membrane subunit c locus 1 pseudogene 8 pseudogene pseudogene Approved 10q22.3 10q22.3 ATP5G1P8 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 8|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 8" 2011-02-01 2017-11-22 2017-11-22 2017-11-22 100288222 ENSG00000224948 OTTHUMG00000018533 NG_028756 PGOHUM00000238847 HGNC:39511 -HGNC:842 ATP5MC2 ATP synthase membrane subunit c locus 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "ATP synthase subunit 9|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit" ATP5G2 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9)" Mitochondrial complex V: ATP synthase subunits 644 1994-07-27 2017-11-22 2017-11-22 2023-01-20 517 ENSG00000135390 OTTHUMG00000133442 uc009znc.4 X69908 NM_005176 "CCDS31812|CCDS81694" Q06055 8328972 MGI:1915192 RGD:620051 603193 objectId:803 HGNC:842 "ENST00000394349.9|NM_005176.7" +HGNC:842 ATP5MC2 ATP synthase membrane subunit c locus 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "ATP synthase subunit 9|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit" ATP5G2 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9)" Mitochondrial complex V: ATP synthase subunits 644 1994-07-27 2017-11-22 2017-11-22 2023-01-20 517 ENSG00000135390 OTTHUMG00000133442 uc009znc.4 X69908 NM_005176 "CCDS81694|CCDS31812" Q06055 8328972 MGI:1915192 RGD:620051 603193 objectId:803 HGNC:842 "ENST00000394349.9|NM_005176.7" HGNC:844 ATP5MC2P1 ATP5MC2 pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 "ATP5GP1|ATP5G2P1" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 1|ATP synthase membrane subunit c locus 2 pseudogene 1" 1994-07-27 2017-11-22 2022-10-28 2022-10-28 520 ENSG00000225712 OTTHUMG00000036167 X69909 NG_004659 8328972 PGOHUM00000244407 HGNC:844 HGNC:19672 ATP5MC2P2 ATP5MC2 pseudogene 2 pseudogene pseudogene Approved 14q21.3 14q21.3 "ATP5GP2|ATP5G2P2" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 2|ATP synthase membrane subunit c locus 2 pseudogene 2" 2003-01-13 2017-11-22 2022-10-28 2022-10-28 319119 ENSG00000258401 OTTHUMG00000170869 NG_002500 PGOHUM00000248160 HGNC:19672 HGNC:42187 ATP5MC2P3 ATP5MC2 pseudogene 3 pseudogene pseudogene Approved 2q33.1 02q33.1 ATP5G2P3 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 3|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 3|ATP synthase membrane subunit c locus 2 pseudogene 3" 2011-06-08 2017-11-22 2022-10-28 2022-10-28 100507097 ENSG00000230482 OTTHUMG00000154410 NG_029212 PGOHUM00000241054 HGNC:42187 @@ -1929,7 +1929,7 @@ HGNC:42188 ATP5MC2P4 ATP5MC2 pseudogene 4 pseudogene pseudogene Approved Xp11.4 HGNC:56523 ATP5MC2P5 ATP5MC2 pseudogene 5 pseudogene pseudogene Approved 3q22.1 03q22.1 2022-10-28 2022-10-28 100507083 ENSG00000249253 NG_030292 PGOHUM00000299588 HGNC:843 ATP5MC3 ATP synthase membrane subunit c locus 3 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "ATP synthase subunit 9|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit" ATP5G3 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)" Mitochondrial complex V: ATP synthase subunits 644 1994-08-10 2017-11-22 2017-11-22 2023-01-20 518 ENSG00000154518 OTTHUMG00000132425 uc002uka.5 BC106881 NM_001689 CCDS2263 P48201 7698763 MGI:2442035 RGD:620052 602736 objectId:803 HGNC:843 "ENST00000284727.9|NM_001689.5" HGNC:846 ATP5ME ATP synthase membrane subunit e protein-coding gene gene with protein product Approved 4p16.3 04p16.3 ATP5I "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E|ATP synthase, H+ transporting, mitochondrial Fo complex subunit E" Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2023-01-20 521 ENSG00000169020 OTTHUMG00000086929 uc003gas.3 AB028624 NM_007100 CCDS3337 P56385 8702853 MGI:106636 RGD:621377 601519 objectId:805 HGNC:846 "ENST00000304312.5|NM_007100.4" -HGNC:848 ATP5MF ATP synthase membrane subunit f protein-coding gene gene with protein product Approved 7q22.1 07q22.1 ATP5JL "F1Fo-ATPase synthase f subunit|ATP synthase f chain, mitochondrial|F1Fo-ATP synthase complex Fo membrane domain f subunit" ATP5J2 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2" Mitochondrial complex V: ATP synthase subunits 644 1999-07-22 2017-11-22 2017-11-22 2023-01-20 9551 ENSG00000241468 OTTHUMG00000154609 uc003uql.4 AF047436 NM_004889 "CCDS5665|CCDS47654|CCDS34692|CCDS47653" P56134 9653160 MGI:1927558 RGD:1596067 619792 objectId:806 HGNC:848 "ENST00000292475.8|NM_004889.5" +HGNC:848 ATP5MF ATP synthase membrane subunit f protein-coding gene gene with protein product Approved 7q22.1 07q22.1 ATP5JL "F1Fo-ATPase synthase f subunit|ATP synthase f chain, mitochondrial|F1Fo-ATP synthase complex Fo membrane domain f subunit" ATP5J2 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2" Mitochondrial complex V: ATP synthase subunits 644 1999-07-22 2017-11-22 2017-11-22 2023-01-20 9551 ENSG00000241468 OTTHUMG00000154609 uc003uql.4 AF047436 NM_004889 "CCDS34692|CCDS47653|CCDS5665|CCDS47654" P56134 9653160 MGI:1927558 RGD:1596067 619792 objectId:806 HGNC:848 "ENST00000292475.8|NM_004889.5" HGNC:38844 ATP5MF-PTCD1 ATP5MF-PTCD1 readthrough other readthrough Approved 7q22.1 07q22.1 ATP5J2-PTCD1 ATP5J2-PTCD1 readthrough 2011-02-21 2017-11-22 2017-11-22 2023-03-15 100526740 ENSG00000248919 OTTHUMG00000160779 uc011kiw.3 NM_001198879.1 MGI:1919049 RGD:1311473 HGNC:38844 HGNC:849 ATP5MFP1 ATP synthase membrane subunit f pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 ATP5J2LP "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2-like pseudogene|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2-like pseudogene|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2-like pseudogene" 2000-05-23 2017-11-22 2017-11-22 2020-04-20 101241877 ENSG00000224421 OTTHUMG00000086613 NG_046962 PGOHUM00000297260 HGNC:849 HGNC:21540 ATP5MFP2 ATP synthase membrane subunit f pseudogene 2 pseudogene pseudogene Approved 6q21 06q21 bA249L21.4 ATP5J2P2 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2 pseudogene 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 2" 2003-11-26 2017-11-22 2017-11-22 2020-04-07 387107 ENSG00000228834 OTTHUMG00000015333 NG_004672 PGOHUM00000301503 HGNC:21540 @@ -1947,7 +1947,7 @@ HGNC:38167 ATP5MGP5 ATP synthase membrane subunit g pseudogene 5 pseudogene pseu HGNC:38168 ATP5MGP6 ATP synthase membrane subunit g pseudogene 6 pseudogene pseudogene Approved 17q25.1 17q25.1 ATP5LP6 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 6|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 6|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 6" 2010-04-22 2017-11-22 2017-11-22 2017-11-22 100462865 ENSG00000267376 OTTHUMG00000180123 NG_022453 PGOHUM00000294221 HGNC:38168 HGNC:38169 ATP5MGP7 ATP synthase membrane subunit g pseudogene 7 pseudogene pseudogene Approved 17q21.2 17q21.2 ATP5LP7 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 7|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 7|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 7" 2010-04-22 2017-11-22 2017-11-22 2017-11-22 100287964 ENSG00000267189 OTTHUMG00000180638 NG_023016 PGOHUM00000294441 HGNC:38169 HGNC:38170 ATP5MGP8 ATP synthase membrane subunit g pseudogene 8 pseudogene pseudogene Approved 11p14.1 11p14.1 ATP5LP8 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 8|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 8|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 8" 2010-04-22 2017-11-22 2017-11-22 2020-04-07 100462862 ENSG00000271332 OTTHUMG00000184831 NG_021779 PGOHUM00000242198 HGNC:38170 -HGNC:1188 ATP5MJ ATP synthase membrane subunit j protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "MP68|MLQ|6.8PL" "6.8 kDa mitochondrial proteolipid|6.8-kDa proteolipid with N-terminal sequence Met-Leu-Gln (MLQ)" "C14orf2|ATP5MPL" "chromosome 14 open reading frame 2|ATP synthase membrane subunit 6.8PL" Mitochondrial complex V: ATP synthase subunits 644 1999-07-22 2020-11-16 2020-11-16 2023-01-20 9556 ENSG00000156411 OTTHUMG00000171601 uc059fuw.1 AF054175 NM_001127393 "CCDS45169|CCDS9986" P56378 "9653160|17575325|24330338|25851905" MGI:1917507 RGD:41368180 604573 HGNC:1188 "ENST00000286953.8|NM_004894.3" +HGNC:1188 ATP5MJ ATP synthase membrane subunit j protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "MP68|MLQ|6.8PL" "6.8 kDa mitochondrial proteolipid|6.8-kDa proteolipid with N-terminal sequence Met-Leu-Gln (MLQ)" "C14orf2|ATP5MPL" "chromosome 14 open reading frame 2|ATP synthase membrane subunit 6.8PL" Mitochondrial complex V: ATP synthase subunits 644 1999-07-22 2020-11-16 2020-11-16 2023-01-20 9556 ENSG00000156411 OTTHUMG00000171601 uc059fuw.1 AF054175 NM_001127393 "CCDS9986|CCDS45169" P56378 "9653160|17575325|24330338|25851905" MGI:1917507 RGD:41368180 604573 HGNC:1188 "ENST00000286953.8|NM_004894.3" HGNC:30889 ATP5MK ATP synthase membrane subunit k protein-coding gene gene with protein product Approved 10q24.33 10q24.33 "MGC14697|bA792D24.4|DAPIT|AGP" Diabetes Associated Protein in Insulin-sensitive Tissues "USMG5|ATP5MD" "upregulated during skeletal muscle growth 5|upregulated during skeletal muscle growth 5 homolog (mouse)|up-regulated during skeletal muscle growth 5 homolog (mouse)|ATP synthase membrane subunit DAPIT" "Mitochondrial complex V: ATP synthase subunits|MicroRNA protein coding host genes" "644|1691" 2004-02-17 2020-11-16 2020-11-16 2023-01-20 84833 ENSG00000173915 OTTHUMG00000018984 uc001kww.4 BC007087 NM_032747 CCDS7548 Q96IX5 "17570365|17575325|22688299|25851905" MGI:1891435 RGD:631426 615204 HGNC:30889 "ENST00000369815.6|NM_001206427.2" HGNC:30889 HGNC:31716 ATP5MKP1 ATP5MK pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 "USMG5P1|ATP5MDP1" "up-regulated during skeletal muscle growth 5 homolog (mouse) pseudogene 1|USMG5 pseudogene 1|ATP synthase membrane subunit DAPIT pseudogene 1" 2005-10-06 2021-01-20 2021-01-20 2021-01-20 100288307 ENSG00000231549 OTTHUMG00000021847 NG_012722 PGOHUM00000241853 HGNC:31716 HGNC:840 ATP5PB ATP synthase peripheral stalk-membrane subunit b protein-coding gene gene with protein product Approved 1p13.2 01p13.2 ATP5F1 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1" Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2023-01-20 515 ENSG00000116459 OTTHUMG00000011745 uc001ebc.4 X60221 NM_001688 CCDS836 P24539 1831354 MGI:1100495 RGD:620041 603270 objectId:802 HGNC:840 "ENST00000369722.8|NM_001688.5" @@ -1977,14 +1977,14 @@ HGNC:853 ATP6V1B1 ATPase H+ transporting V1 subunit B1 protein-coding gene gene HGNC:51118 ATP6V1B1-AS1 ATP6V1B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 Antisense RNAs 1987 2014-07-30 2014-07-30 101927750 ENSG00000239322 OTTHUMG00000153727 NR_110273 ATP6V1B1-AS1 HGNC:51118 HGNC:854 ATP6V1B2 ATPase H+ transporting V1 subunit B2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "VATB|Vma2|HO57" V-ATPase subunit B2 "VPP3|ATP6B2" "ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2" "V-type ATPase subunits|ATPase F1/V1 alpha/A and beta/B subunit family" "415|2053" 1990-07-03 2002-05-10 2016-02-11 2023-01-20 526 ENSG00000147416 OTTHUMG00000131073 uc003wzp.4 L35249 NM_001693 CCDS6014 P21281 "2145275|14580332" MGI:109618 RGD:620284 606939 410340 objectId:812 HGNC:854 "ENST00000276390.7|NM_001693.4" HGNC:854 HGNC:856 ATP6V1C1 ATPase H+ transporting V1 subunit C1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "VATC|Vma5" V-ATPase subunit C1 "ATP6D|ATP6C" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1" V-type ATPase subunits 415 1993-07-27 2002-05-10 2016-02-11 2023-01-20 528 ENSG00000155097 OTTHUMG00000164761 uc003yla.4 X69151 NM_001695 CCDS6296 P21283 "8250920|14580332" MGI:1913585 RGD:1311082 603097 objectId:813 3.6.3.14 HGNC:856 "ENST00000518738.2|NM_001695.5" -HGNC:18264 ATP6V1C2 ATPase H+ transporting V1 subunit C2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "VMA5|ATP6C2" V-ATPase subunit C2 "ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2" V-type ATPase subunits 415 2002-05-09 2016-02-11 2023-01-20 245973 ENSG00000143882 OTTHUMG00000090459 uc002rat.3 AY039759 NM_144583 "CCDS1674|CCDS92714|CCDS42653" Q8NEY4 12384298 MGI:1916025 RGD:1359430 618070 objectId:814 HGNC:18264 "ENST00000272238.9|NM_001039362.2" +HGNC:18264 ATP6V1C2 ATPase H+ transporting V1 subunit C2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "VMA5|ATP6C2" V-ATPase subunit C2 "ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2" V-type ATPase subunits 415 2002-05-09 2016-02-11 2023-01-20 245973 ENSG00000143882 OTTHUMG00000090459 uc002rat.3 AY039759 NM_144583 "CCDS42653|CCDS92714|CCDS1674" Q8NEY4 12384298 MGI:1916025 RGD:1359430 618070 objectId:814 HGNC:18264 "ENST00000272238.9|NM_001039362.2" HGNC:13527 ATP6V1D ATPase H+ transporting V1 subunit D protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "VATD|VMA8" V-ATPase subunit D ATP6M "ATPase, H+ transporting, lysosomal (vacuolar proton pump)|ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D" V-type ATPase subunits 415 2001-08-01 2002-05-10 2016-02-11 2023-01-20 51382 ENSG00000100554 OTTHUMG00000171244 uc001xjf.4 AF145316 NM_015994 CCDS9780 Q9Y5K8 9442887 MGI:1921084 RGD:735119 609398 objectId:815 HGNC:13527 "ENST00000216442.12|NM_015994.4" -HGNC:857 ATP6V1E1 ATPase H+ transporting V1 subunit E1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "P31|Vma4|ATP6E2" V-ATPase subunit E1 "ATP6E|ATP6V1E" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1" V-type ATPase subunits 415 1993-07-27 2002-06-21 2016-02-11 2023-01-20 529 ENSG00000131100 OTTHUMG00000059320 uc002zmr.3 X76228 NM_001696 "CCDS13745|CCDS42978|CCDS42977" P36543 "8004105|8250920" MGI:894326 RGD:735157 108746 objectId:816 HGNC:857 "ENST00000253413.10|NM_001696.4" HGNC:857 +HGNC:857 ATP6V1E1 ATPase H+ transporting V1 subunit E1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "P31|Vma4|ATP6E2" V-ATPase subunit E1 "ATP6E|ATP6V1E" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1" V-type ATPase subunits 415 1993-07-27 2002-06-21 2016-02-11 2023-01-20 529 ENSG00000131100 OTTHUMG00000059320 uc002zmr.3 X76228 NM_001696 "CCDS13745|CCDS42977|CCDS42978" P36543 "8004105|8250920" MGI:894326 RGD:735157 108746 objectId:816 HGNC:857 "ENST00000253413.10|NM_001696.4" HGNC:857 HGNC:859 ATP6V1E1P1 ATPase H+ transporting V1 subunit E1 pseudogene 1 pseudogene pseudogene Approved 1p34.2 01p34.2 "ATP6EP1|ATP6V1EP1" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD pseudogene 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 1" 1993-07-27 2010-01-05 2016-02-11 2020-04-20 343515 ENSG00000225099 OTTHUMG00000007618 NG_016586 PGOHUM00000244694 HGNC:859 HGNC:860 ATP6V1E1P2 ATPase H+ transporting V1 subunit E1 pseudogene 2 pseudogene pseudogene Approved 18q11.2 18q11.2 "ATP6EP2|ATP6V1EP2" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD pseudogene 2|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 2|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 2" 1993-07-27 2010-01-05 2016-02-11 2020-04-07 100462844 ENSG00000266549 OTTHUMG00000179527 NG_026284 PGOHUM00000234906 HGNC:860 HGNC:858 ATP6V1E1P3 ATPase H+ transporting V1 subunit E1 pseudogene 3 pseudogene pseudogene Approved 12q14.2 12q14.2 "ATP6EL1|ATP6V1EL1" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E-like 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E-like 1 (pseudogene)|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 3" 1993-10-19 2010-01-05 2016-02-11 2020-04-20 729435 ENSG00000256293 OTTHUMG00000168783 NG_009357 PGOHUM00000239495 HGNC:858 HGNC:18125 ATP6V1E2 ATPase H+ transporting V1 subunit E2 protein-coding gene gene with protein product Approved 2p21 02p21 "MGC9341|VMA4|ATP6E1" V-ATPase subunit E2 "ATP6EL2|ATP6V1EL2" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2" V-type ATPase subunits 415 2002-02-20 2002-06-21 2016-02-11 2023-01-20 90423 ENSG00000250565 OTTHUMG00000128819 uc061ivo.1 BC008981 NM_080653 CCDS1826 Q96A05 12036578 MGI:1922165 RGD:1311680 617385 objectId:817 HGNC:18125 "ENST00000522587.6|NM_001318063.2" -HGNC:16832 ATP6V1F ATPase H+ transporting V1 subunit F protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "ATP6S14|VATF|Vma7" V-ATPase subunit F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F V-type ATPase subunits 415 2002-05-09 2016-02-11 2023-01-20 9296 ENSG00000128524 OTTHUMG00000158365 uc003voc.3 D49400 NM_004231 "CCDS5807|CCDS56511" Q16864 "8581736|8621738" MGI:1913394 RGD:621552 607160 objectId:818 3.6.3.14 HGNC:16832 "ENST00000249289.5|NM_004231.4" +HGNC:16832 ATP6V1F ATPase H+ transporting V1 subunit F protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "ATP6S14|VATF|Vma7" V-ATPase subunit F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F V-type ATPase subunits 415 2002-05-09 2016-02-11 2023-01-20 9296 ENSG00000128524 OTTHUMG00000158365 uc003voc.3 D49400 NM_004231 "CCDS56511|CCDS5807" Q16864 "8581736|8621738" MGI:1913394 RGD:621552 607160 objectId:818 3.6.3.14 HGNC:16832 "ENST00000249289.5|NM_004231.4" HGNC:864 ATP6V1G1 ATPase H+ transporting V1 subunit G1 protein-coding gene gene with protein product Approved 9q32 09q32 "ATP6GL|Vma10|ATP6G|DKFZp547P234" V-ATPase subunit G1 "ATP6J|ATP6G1" "ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1" V-type ATPase subunits 415 1999-07-22 2002-05-10 2016-02-11 2023-01-20 9550 ENSG00000136888 OTTHUMG00000021023 uc004bjc.4 AF038954 NM_004888 CCDS6807 O75348 9653160 MGI:1913540 RGD:1310088 607296 objectId:819 HGNC:864 "ENST00000374050.4|NM_004888.4" HGNC:19816 ATP6V1G1P1 ATPase H+ transporting V1 subunit G1 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 ATP6V1GP1 "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G pseudogene 1|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1" 2003-01-13 2010-01-05 2016-02-11 2020-04-07 319116 ENSG00000270371 OTTHUMG00000184425 NG_001019 PGOHUM00000247913 HGNC:19816 HGNC:29359 ATP6V1G1P2 ATPase H+ transporting V1 subunit G1 pseudogene 2 pseudogene pseudogene Approved 8q11.1 08q11.1 ATP6V1GP2 "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G pseudogene 2|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 2" 2005-10-06 2010-01-05 2016-02-11 2016-10-05 100128541 ENSG00000253502 OTTHUMG00000164147 AC120036 NG_022387 PGOHUM00000249326 HGNC:29359 @@ -1993,11 +1993,11 @@ HGNC:37671 ATP6V1G1P4 ATPase H+ transporting V1 subunit G1 pseudogene 4 pseudoge HGNC:37672 ATP6V1G1P5 ATPase H+ transporting V1 subunit G1 pseudogene 5 pseudogene pseudogene Approved 5q33.1 05q33.1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 5 2010-01-05 2016-02-11 2020-04-07 100462840 ENSG00000270904 OTTHUMG00000184553 NG_021901 PGOHUM00000235812 HGNC:37672 HGNC:37673 ATP6V1G1P6 ATPase H+ transporting V1 subunit G1 pseudogene 6 pseudogene pseudogene Approved 5q14.1 05q14.1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 6 2010-01-05 2016-02-11 2016-02-11 100462732 ENSG00000249372 OTTHUMG00000162480 NG_021444 PGOHUM00000235668 HGNC:37673 HGNC:39852 ATP6V1G1P7 ATPase H+ transporting V1 subunit G1 pseudogene 7 pseudogene pseudogene Approved 13q33.1 13q33.1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 7 2011-08-15 2016-02-11 2020-11-17 100874514 ENSG00000230474 OTTHUMG00000017315 NG_032360 HGNC:39852 -HGNC:862 ATP6V1G2 ATPase H+ transporting V1 subunit G2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "Vma10|NG38|Em:AC004181.3" V-ATPase subunit G2 "ATP6G|ATP6G2" "ATPase, H+ transporting, lysosomal (vacuolar proton pump)|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2" V-type ATPase subunits 415 1997-10-10 2002-05-10 2016-02-11 2023-01-20 534 ENSG00000213760 OTTHUMG00000166618 uc021zuc.2 Y14768 NM_130463 "CCDS56413|CCDS4699|CCDS4698" O95670 10202016 MGI:1913487 RGD:1303186 606853 objectId:820 HGNC:862 "ENST00000303892.10|NM_130463.4" +HGNC:862 ATP6V1G2 ATPase H+ transporting V1 subunit G2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "Vma10|NG38|Em:AC004181.3" V-ATPase subunit G2 "ATP6G|ATP6G2" "ATPase, H+ transporting, lysosomal (vacuolar proton pump)|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2" V-type ATPase subunits 415 1997-10-10 2002-05-10 2016-02-11 2023-01-20 534 ENSG00000213760 OTTHUMG00000166618 uc021zuc.2 Y14768 NM_130463 "CCDS56413|CCDS4698|CCDS4699" O95670 10202016 MGI:1913487 RGD:1303186 606853 objectId:820 HGNC:862 "ENST00000303892.10|NM_130463.4" HGNC:41999 ATP6V1G2-DDX39B ATP6V1G2-DDX39B readthrough (NMD candidate) other readthrough Approved 6p21.33 06p21.33 2011-05-31 2013-05-09 2014-11-19 100532737 ENSG00000254870 OTTHUMG00000031200 uc063nav.1 NR_037853.1 HGNC:41999 -HGNC:18265 ATP6V1G3 ATPase H+ transporting V1 subunit G3 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "ATP6G3|Vma10" V-ATPase subunit G3 "ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3" V-type ATPase subunits 415 2002-05-09 2016-02-11 2023-01-20 127124 ENSG00000151418 OTTHUMG00000035661 uc001gup.4 AY039760 NM_133326 "CCDS81414|CCDS1396|CCDS1395" Q96LB4 9442887 MGI:2450548 RGD:1304635 618071 objectId:821 HGNC:18265 "ENST00000367382.6|NM_001376861.1" +HGNC:18265 ATP6V1G3 ATPase H+ transporting V1 subunit G3 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "ATP6G3|Vma10" V-ATPase subunit G3 "ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3" V-type ATPase subunits 415 2002-05-09 2016-02-11 2023-01-20 127124 ENSG00000151418 OTTHUMG00000035661 uc001gup.4 AY039760 NM_133326 "CCDS1395|CCDS81414|CCDS1396" Q96LB4 9442887 MGI:2450548 RGD:1304635 618071 objectId:821 HGNC:18265 "ENST00000367382.6|NM_001376861.1" HGNC:18303 ATP6V1H ATPase H+ transporting V1 subunit H protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "CGI-11|SFD|VMA13|SFDalpha|SFDbeta" "vacuolar ATP synthase subunit H|V-ATPase subunit H" "ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H|ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H" "V-type ATPase subunits|Armadillo like helical domain containing" "415|1492" 2002-05-09 2016-02-11 2023-01-20 51606 ENSG00000047249 OTTHUMG00000164231 uc003xrm.5 AF132945 NM_015941 "CCDS6154|CCDS6153" Q9UI12 "9620685|10810093" MGI:1914864 RGD:1562450 608861 objectId:822 HGNC:18303 "ENST00000359530.7|NM_015941.4" -HGNC:865 ATP6V0A1 ATPase H+ transporting V0 subunit a1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "a1|Vph1|Stv1" "vacuolar proton pump subunit 1|V-ATPase subunit a1" "VPP1|ATP6N1|ATP6N1A" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)|ATPase, H+ transporting, lysosomal V0 subunit a isoform 1|ATPase, H+ transporting, lysosomal V0 subunit A1|ATPase, H+ transporting, lysosomal V0 subunit a1" "V-type ATPase subunits|MicroRNA protein coding host genes" "415|1691" 1990-07-03 2002-05-10 2016-02-11 2023-01-20 535 ENSG00000033627 OTTHUMG00000180238 uc002hzs.4 U73006 NM_001130020 "CCDS92317|CCDS11426|CCDS45683|CCDS92322|CCDS92320|CCDS92321|CCDS45684|CCDS92323|CCDS92318|CCDS92324|CCDS92319" Q93050 7774924 MGI:103286 RGD:68405 192130 objectId:823 HGNC:865 "ENST00000343619.9|NM_001130021.3" HGNC:865 +HGNC:865 ATP6V0A1 ATPase H+ transporting V0 subunit a1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "a1|Vph1|Stv1" "vacuolar proton pump subunit 1|V-ATPase subunit a1" "VPP1|ATP6N1|ATP6N1A" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)|ATPase, H+ transporting, lysosomal V0 subunit a isoform 1|ATPase, H+ transporting, lysosomal V0 subunit A1|ATPase, H+ transporting, lysosomal V0 subunit a1" "V-type ATPase subunits|MicroRNA protein coding host genes" "415|1691" 1990-07-03 2002-05-10 2016-02-11 2023-01-20 535 ENSG00000033627 OTTHUMG00000180238 uc002hzs.4 U73006 NM_001130020 "CCDS45684|CCDS92324|CCDS92319|CCDS92321|CCDS11426|CCDS92323|CCDS92320|CCDS92317|CCDS92318|CCDS45683|CCDS92322" Q93050 7774924 MGI:103286 RGD:68405 192130 objectId:823 HGNC:865 "ENST00000343619.9|NM_001130021.3" HGNC:865 HGNC:18481 ATP6V0A2 ATPase H+ transporting V0 subunit a2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "TJ6|a2|TJ6s|TJ6M|ATP6a2|J6B7|ATP6N1D|Vph1|Stv1|a2V|RTF" "infantile malignant osteopetrosis|V-ATPase subunit a2|V-type proton ATPase 116 kDa subunit a2|regeneration and tolerance factor" "infantile malignant osteopetrosis|ATPase, H+ transporting, lysosomal V0 subunit a isoform 2|ATPase, H+ transporting, lysosomal V0 subunit A2|ATPase, H+ transporting, lysosomal V0 subunit a2" V-type ATPase subunits 415 2002-05-09 2016-02-11 2023-01-20 23545 ENSG00000185344 OTTHUMG00000168723 uc001ufr.4 AF112972 NM_012463 CCDS9254 Q9Y487 "2247090|18157129" MGI:104855 RGD:621006 611716 159322 objectId:824 HGNC:18481 "ENST00000330342.8|NM_012463.4" HGNC:18481 HGNC:866 ATP6V0A4 ATPase H+ transporting V0 subunit a4 protein-coding gene gene with protein product Approved 7q34 07q34 "RDRTA2|VPP2|RTADR|a4|Vph1|Stv1" "V-ATPase subunit a4|vacuolar proton pump subunit 2" "ATP6N1B|ATP6N2|RTA1C" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B|ATPase, H+ transporting, lysosomal V0 subunit a isoform 4|ATPase, H+ transporting, lysosomal V0 subunit A4|ATPase, H+ transporting, lysosomal V0 subunit a4" V-type ATPase subunits 415 2000-03-29 2002-05-10 2016-02-11 2023-01-20 50617 ENSG00000105929 OTTHUMG00000157122 uc003vug.4 AF245517 NM_020632 CCDS5849 Q9HBG4 "10577919|10973252" MGI:2153480 RGD:1305055 LRG_1175|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1175.xml 605239 118861 objectId:826 HGNC:866 "ENST00000310018.7|NM_020632.3" HGNC:866 HGNC:861 ATP6V0B ATPase H+ transporting V0 subunit b protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "VMA16|HATPL" V-ATPase subunit b ATP6F "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD|ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''|ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b" V-type ATPase subunits 415 1997-08-18 2002-05-10 2016-02-11 2023-01-20 533 ENSG00000117410 OTTHUMG00000008298 uc001cld.4 BC000423 NM_004047 "CCDS41315|CCDS72772|CCDS505" Q99437 9653649 MGI:1890510 RGD:1308303 603717 objectId:827 HGNC:861 "ENST00000472174.7|NM_004047.5" @@ -2014,20 +2014,20 @@ HGNC:41935 ATP6V0E1P1 ATPase H+ transporting V0 subunit e1 pseudogene 1 pseudoge HGNC:41936 ATP6V0E1P2 ATPase H+ transporting V0 subunit e1 pseudogene 2 pseudogene pseudogene Approved 3p22.1 03p22.1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 2 2011-05-19 2016-02-11 2016-02-11 100874503 ENSG00000223513 OTTHUMG00000156188 NG_051047 PGOHUM00000237598 HGNC:41936 HGNC:41937 ATP6V0E1P3 ATPase H+ transporting V0 subunit e1 pseudogene 3 pseudogene pseudogene Approved 2p22.3 02p22.3 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 3 2011-05-19 2016-02-11 2016-02-11 100133262 ENSG00000238038 OTTHUMG00000152159 NG_029004 PGOHUM00000240617 HGNC:41937 HGNC:41938 ATP6V0E1P4 ATPase H+ transporting V0 subunit e1 pseudogene 4 pseudogene pseudogene Approved 1p33 01p33 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 4 2011-05-19 2016-02-11 2016-02-11 100874504 ENSG00000227883 OTTHUMG00000007966 NG_032380 PGOHUM00000244706 HGNC:41938 -HGNC:21723 ATP6V0E2 ATPase H+ transporting V0 subunit e2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 V-ATPase subunit e1 "C7orf32|ATP6V0E2L" "chromosome 7 open reading frame 32|ATPase, H+ transporting V0 subunit E isoform 2-like (rat)|ATPase, H+ transporting V0 subunit e2" V-type ATPase subunits 415 2003-07-14 2006-10-12 2016-02-11 2023-01-20 155066 ENSG00000171130 OTTHUMG00000158094 uc003wgp.3 AK057700 NM_145230 "CCDS47742|CCDS94229|CCDS55181" Q8NHE4 MGI:1923502 RGD:1303238 611019 objectId:832 HGNC:21723 "ENST00000425642.3|NM_145230.4" +HGNC:21723 ATP6V0E2 ATPase H+ transporting V0 subunit e2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 V-ATPase subunit e1 "C7orf32|ATP6V0E2L" "chromosome 7 open reading frame 32|ATPase, H+ transporting V0 subunit E isoform 2-like (rat)|ATPase, H+ transporting V0 subunit e2" V-type ATPase subunits 415 2003-07-14 2006-10-12 2016-02-11 2023-01-20 155066 ENSG00000171130 OTTHUMG00000158094 uc003wgp.3 AK057700 NM_145230 "CCDS47742|CCDS55181|CCDS94229" Q8NHE4 MGI:1923502 RGD:1303238 611019 objectId:832 HGNC:21723 "ENST00000425642.3|NM_145230.4" HGNC:44180 ATP6V0E2-AS1 ATP6V0E2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 ATP6V0E2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 401431 ENSG00000204934 OTTHUMG00000158095 uc003wgn.5 BC028735 NR_027040 ATP6V0E2-AS1 HGNC:44180 HGNC:869 ATP7A ATPase copper transporting alpha protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "copper pump 1|copper-transporting ATPase 1" MNK "Menkes syndrome|ATPase, Cu++ transporting, alpha polypeptide" ATPase copper transporting 1212 1986-01-01 2016-02-10 2023-01-20 538 ENSG00000165240 OTTHUMG00000021885 uc004ecx.6 L06133 NM_000052 "CCDS75997|CCDS35339" Q04656 10079817 MGI:99400 RGD:2179 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP7A 300011 118879 objectId:852 3.6.3.4 HGNC:869 "ENST00000341514.11|NM_000052.7" HGNC:869 -HGNC:870 ATP7B ATPase copper transporting beta protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "Wilson disease|copper pump 2|copper-transporting ATPase 2" WND "ATPase, Cu++ transporting, beta polypeptide (Wilson disease)|ATPase, Cu++ transporting, beta polypeptide" ATPase copper transporting 1212 1986-01-01 2016-02-10 2023-01-20 540 ENSG00000123191 OTTHUMG00000017406 uc001vfw.4 U11700 NM_000053 "CCDS58293|CCDS45049|CCDS81768|CCDS41892|CCDS91810" P35670 "8298641|8298639" MGI:103297 RGD:2180 "Wilson Disease Mutation Database|http://www.medicalgenetics.med.ualberta.ca/wilson/index.php|UMD Locus Specific Databases|http://www.umd.be/" 606882 118882 objectId:853 3.6.3.4 HGNC:870 "ENST00000242839.10|NM_000053.4" HGNC:870 +HGNC:870 ATP7B ATPase copper transporting beta protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "Wilson disease|copper pump 2|copper-transporting ATPase 2" WND "ATPase, Cu++ transporting, beta polypeptide (Wilson disease)|ATPase, Cu++ transporting, beta polypeptide" ATPase copper transporting 1212 1986-01-01 2016-02-10 2023-01-20 540 ENSG00000123191 OTTHUMG00000017406 uc001vfw.4 U11700 NM_000053 "CCDS45049|CCDS41892|CCDS91810|CCDS58293|CCDS81768" P35670 "8298641|8298639" MGI:103297 RGD:2180 "Wilson Disease Mutation Database|http://www.medicalgenetics.med.ualberta.ca/wilson/index.php|UMD Locus Specific Databases|http://www.umd.be/" 606882 118882 objectId:853 3.6.3.4 HGNC:870 "ENST00000242839.10|NM_000053.4" HGNC:870 HGNC:31014 ATP7BP1 ATPase copper transporting beta pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 ATPase, Cu++ transporting, beta polypeptide pseudogene 1 2010-04-20 2016-02-10 2020-04-07 100462825 ENSG00000270855 OTTHUMG00000185042 NG_022482 PGOHUM00000234894 HGNC:31014 -HGNC:13531 ATP8A1 ATPase phospholipid transporting 8A1 protein-coding gene gene with protein product Approved 4p13 04p13 ATPIA "ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1|ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1" ATPase phospholipid transporting 1210 2000-09-20 2016-02-11 2023-01-20 10396 ENSG00000124406 OTTHUMG00000099403 uc003gwr.3 AF067820 NM_006095 "CCDS93493|CCDS47049|CCDS3466" Q9Y2Q0 "10198212|9548971" MGI:1330848 RGD:1309619 609542 objectId:854 HGNC:13531 "ENST00000381668.9|NM_006095.2" +HGNC:13531 ATP8A1 ATPase phospholipid transporting 8A1 protein-coding gene gene with protein product Approved 4p13 04p13 ATPIA "ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1|ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1" ATPase phospholipid transporting 1210 2000-09-20 2016-02-11 2023-01-20 10396 ENSG00000124406 OTTHUMG00000099403 uc003gwr.3 AF067820 NM_006095 "CCDS93493|CCDS3466|CCDS47049" Q9Y2Q0 "10198212|9548971" MGI:1330848 RGD:1309619 609542 objectId:854 HGNC:13531 "ENST00000381668.9|NM_006095.2" HGNC:55392 ATP8A1-DT ATP8A1 divergent transcript non-coding RNA RNA, long non-coding Approved 4p13 04p13 Divergent transcripts 1990 2020-12-21 2020-12-21 119863863 ENSG00000260519 -HGNC:13533 ATP8A2 ATPase phospholipid transporting 8A2 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "ATPIB|ML-1" "ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2|ATPase, aminophospholipid transporter-like, class I, type 8A, member 2|ATPase, aminophospholipid transporter, class I, type 8A, member 2" ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-01-20 51761 ENSG00000132932 OTTHUMG00000016611 uc001uqk.4 AL137256 NM_016529 "CCDS91793|CCDS41873|CCDS91792" Q9NTI2 "11015572|19778899" MGI:1354710 RGD:1594597 605870 327294 objectId:855 3.6.3.1 HGNC:13533 "ENST00000381655.7|NM_016529.6" HGNC:13533 +HGNC:13533 ATP8A2 ATPase phospholipid transporting 8A2 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "ATPIB|ML-1" "ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2|ATPase, aminophospholipid transporter-like, class I, type 8A, member 2|ATPase, aminophospholipid transporter, class I, type 8A, member 2" ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-01-20 51761 ENSG00000132932 OTTHUMG00000016611 uc001uqk.4 AL137256 NM_016529 "CCDS41873|CCDS91793|CCDS91792" Q9NTI2 "11015572|19778899" MGI:1354710 RGD:1594597 605870 327294 objectId:855 3.6.3.1 HGNC:13533 "ENST00000381655.7|NM_016529.6" HGNC:13533 HGNC:39662 ATP8A2P1 ATPase phospholipid transporting 8A2 pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 1 2011-03-18 2016-02-11 2020-01-21 100422505 ENSG00000240800 OTTHUMG00000017970 NG_025483 PGOHUM00000238726 HGNC:39662 HGNC:39663 ATP8A2P2 ATPase phospholipid transporting 8A2 pseudogene 2 pseudogene pseudogene Approved 13q13.1 13q13.1 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 2 2011-03-18 2016-02-11 2016-02-11 100533851 ENSG00000229800 OTTHUMG00000016698 NG_028886 PGOHUM00000248564 HGNC:39663 HGNC:42641 ATP8A2P3 ATPase phospholipid transporting 8A2 pseudogene 3 pseudogene pseudogene Approved 13q12.13 13q12.13 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 3 2011-08-10 2016-02-11 2016-02-11 100874518 ENSG00000233963 OTTHUMG00000016613 NG_032522 HGNC:42641 HGNC:3706 ATP8B1 ATPase phospholipid transporting 8B1 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 "ATPIC|PFIC" "FIC1|BRIC|PFIC1" "ATPase, Class I, type 8B, member 1|ATPase, class I, type 8B, member 1|ATPase, aminophospholipid transporter, class I, type 8B, member 1" ATPase phospholipid transporting 1210 1996-12-17 2016-02-11 2023-01-20 5205 ENSG00000081923 OTTHUMG00000180255 uc002lgw.5 AF038007 NM_005603 CCDS11965 O43520 "9500542|7655458" MGI:1859665 RGD:1308488 LRG_1205|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1205.xml 602397 118885 objectId:856 3.6.3.1 HGNC:3706 "ENST00000648908.2|NM_001374385.1" HGNC:3706 HGNC:56042 ATP8B1-AS1 ATP8B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q21.31 18q21.31 RP11-35G9.3 Antisense RNAs 1987 2021-12-08 2021-12-08 100505549 ENSG00000267040 NR_164148 -HGNC:13534 ATP8B2 ATPase phospholipid transporting 8B2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "ATPID|KIAA1137" "ATPase, class I, type 8B, member 2|ATPase, aminophospholipid transporter, class I, type 8B, member 2" ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-01-20 57198 ENSG00000143515 OTTHUMG00000035979 uc001fex.4 AB032963 NM_020452 "CCDS41405|CCDS1066|CCDS91062" P98198 "10574461|11015572" MGI:1859660 RGD:1597731 605867 objectId:857 3.6.3.1 HGNC:13534 "ENST00000368489.6|NM_001370597.1" +HGNC:13534 ATP8B2 ATPase phospholipid transporting 8B2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "ATPID|KIAA1137" "ATPase, class I, type 8B, member 2|ATPase, aminophospholipid transporter, class I, type 8B, member 2" ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-01-20 57198 ENSG00000143515 OTTHUMG00000035979 uc001fex.4 AB032963 NM_020452 "CCDS91062|CCDS41405|CCDS1066" P98198 "10574461|11015572" MGI:1859660 RGD:1597731 605867 objectId:857 3.6.3.1 HGNC:13534 "ENST00000368489.6|NM_001370597.1" HGNC:13535 ATP8B3 ATPase phospholipid transporting 8B3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ATPIK "aminophospholipid translocase ATP8B3|potential phospholipid-transporting ATPase IK" "ATPase, Class I, type 8B, member 3|ATPase, class I, type 8B, member 3|ATPase, aminophospholipid transporter, class I, type 8B, member 3" ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-01-20 148229 ENSG00000130270 OTTHUMG00000166189 uc002ltw.4 AA827939 NM_138813 "CCDS54196|CCDS45901" O60423 11015572 MGI:1914581 RGD:1307622 605866 objectId:858 3.6.3.1 HGNC:13535 "ENST00000310127.10|NM_138813.4" HGNC:13536 ATP8B4 ATPase phospholipid transporting 8B4 (putative) protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "ATPIM|KIAA1939" "ATPase, Class I, type 8B, member 4|ATPase, class I, type 8B, member 4" ATPase phospholipid transporting 1210 2005-01-26 2016-02-11 2023-01-20 79895 ENSG00000104043 OTTHUMG00000172368 uc001zxu.4 AB075819 NM_024837 CCDS32238 Q8TF62 11015572 MGI:1859664 RGD:1306712 609123 objectId:859 3.6.3.1 HGNC:13536 "ENST00000284509.11|NM_024837.4" HGNC:27245 ATP8B5P ATPase phospholipid transporting 8B5, pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 FetA flippase expressed in testis splicing form A pseudogene ATPase, class I, type 8B, member 5, pseudogene ATPase phospholipid transporting 1210 2010-05-06 2016-02-11 2016-02-11 158381 ENSG00000179766 OTTHUMG00000019862 NR_003581.1 "20210903|19657017" MGI:2444287 HGNC:27245 @@ -2035,45 +2035,45 @@ HGNC:13540 ATP9A ATPase phospholipid transporting 9A (putative) protein-coding g HGNC:13541 ATP9B ATPase phospholipid transporting 9B (putative) protein-coding gene gene with protein product Approved 18q23 18q23 ATPIIB ATPase, class II, type 9B ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-01-20 374868 ENSG00000166377 OTTHUMG00000132898 uc002lmw.2 R51412 NM_198531 "CCDS12014|CCDS77202" O43861 "9548971|11015572" MGI:1354757 RGD:1563006 614446 objectId:861 HGNC:13541 "ENST00000426216.6|NM_198531.5" HGNC:13542 ATP10A ATPase phospholipid transporting 10A (putative) protein-coding gene gene with protein product Approved 15q12 15q12 "ATPVA|ATPVC|KIAA0566" ATP10C ATP10C "ATPase phospholipid transporting|MicroRNA protein coding host genes" "1210|1691" 2000-09-25 2017-08-08 2023-01-20 57194 ENSG00000206190 OTTHUMG00000171703 uc010ayu.4 AB011138 NM_024490 CCDS32178 O60312 "11015572|25947375" MGI:1330809 RGD:1306150 605855 121487 objectId:862 HGNC:13542 "ENST00000555815.7|NM_024490.4" HGNC:55434 ATP10A-DT ATP10A divergent transcript non-coding RNA RNA, long non-coding Approved 15q12 15q12 Divergent transcripts 1990 2021-01-14 2021-01-14 105370738 ENSG00000259011 NR_183988 -HGNC:13543 ATP10B ATPase phospholipid transporting 10B (putative) protein-coding gene gene with protein product Approved 5q34 05q34 "ATPVB|KIAA0715|FLJ21477" ATPase, Class V, type 10B ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-01-20 23120 ENSG00000118322 OTTHUMG00000163551 uc003lym.1 AB018258 NM_025153 "CCDS43394|CCDS93811" O94823 "9872452|11015572" MGI:2442688 RGD:1565126 619791 objectId:863 HGNC:13543 "ENST00000327245.10|NM_025153.3" +HGNC:13543 ATP10B ATPase phospholipid transporting 10B (putative) protein-coding gene gene with protein product Approved 5q34 05q34 "ATPVB|KIAA0715|FLJ21477" ATPase, Class V, type 10B ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-01-20 23120 ENSG00000118322 OTTHUMG00000163551 uc003lym.1 AB018258 NM_025153 "CCDS93811|CCDS43394" O94823 "9872452|11015572" MGI:2442688 RGD:1565126 619791 objectId:863 HGNC:13543 "ENST00000327245.10|NM_025153.3" HGNC:13549 ATP10D ATPase phospholipid transporting 10D (putative) protein-coding gene gene with protein product Approved 4p12 04p12 "ATPVD|KIAA1487" ATPase, Class V, type 10D ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-01-20 57205 ENSG00000145246 OTTHUMG00000160784 uc003gxk.2 AB040920 NM_020453 CCDS3476 Q9P241 12532265 MGI:2450125 RGD:1588541 619815 objectId:864 HGNC:13549 "ENST00000273859.8|NM_020453.4" HGNC:13552 ATP11A ATPase phospholipid transporting 11A protein-coding gene gene with protein product Approved 13q34 13q34 "ATPIH|ATPIS|KIAA1021" "potential phospholipid-transporting ATPase IH|phospholipid-translocating ATPase" ATPase, Class VI, type 11A ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-03-15 23250 ENSG00000068650 OTTHUMG00000017371 uc058yjm.1 AB028944 NM_015205 CCDS32011 P98196 "11015572|26567335" MGI:1354735 RGD:1308688 605868 353241 objectId:865 7.6.2.1 HGNC:13552 "ENST00000375645.8|NM_015205.3" HGNC:40645 ATP11A-AS1 ATP11A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 ATP11A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2014-11-19 100874205 ENSG00000232684 OTTHUMG00000017370 uc001vsk.5 NR_046661 ATP11A-AS1 HGNC:40645 HGNC:33793 ATP11AUN ATP11A upstream neighbor lncRNA non-coding RNA RNA, long non-coding Approved 13q34 13q34 "FLJ26443|SMABLO1" small blood protein 1 C13orf35 chromosome 13 open reading frame 35 Long non-coding RNAs with non-systematic symbols 1992 2008-02-21 2014-02-11 2020-11-17 2023-03-15 400165 ENSG00000197595 OTTHUMG00000056478 AK129953 NR_164109 Q6ZP68 HGNC:33793 HGNC:13553 ATP11B ATPase phospholipid transporting 11B (putative) protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "ATPIF|ATPIR|KIAA0956" ATPase, Class VI, type 11B ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2023-01-20 23200 ENSG00000058063 OTTHUMG00000158295 uc003flb.4 AF156548 NM_014616 CCDS33896 Q9Y2G3 "10231032|11015572" MGI:1923545 RGD:1561719 605869 objectId:866 HGNC:13553 "ENST00000323116.10|NM_014616.3" HGNC:55642 ATP11B-DT ATP11B divergent transcript non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 Divergent transcripts 1990 2021-06-25 2021-06-25 105374245 ENSG00000240063 XR_924767 -HGNC:13554 ATP11C ATPase phospholipid transporting 11C protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 "ATPIG|ATPIQ" ATPase, Class VI, type 11C "ATPase phospholipid transporting|MicroRNA protein coding host genes" "1210|1691" 2000-09-25 2016-02-11 2023-01-20 286410 ENSG00000101974 OTTHUMG00000022538 uc004faz.4 AJ580094 NM_173694 "CCDS35410|CCDS94677|CCDS14668" Q8NB49 "11015572|26567335" MGI:1859661 RGD:1564481 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP11C 300516 objectId:867 HGNC:13554 "ENST00000682941.1|NM_001353812.2" +HGNC:13554 ATP11C ATPase phospholipid transporting 11C protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 "ATPIG|ATPIQ" ATPase, Class VI, type 11C "ATPase phospholipid transporting|MicroRNA protein coding host genes" "1210|1691" 2000-09-25 2016-02-11 2023-01-20 286410 ENSG00000101974 OTTHUMG00000022538 uc004faz.4 AJ580094 NM_173694 "CCDS14668|CCDS35410|CCDS94677" Q8NB49 "11015572|26567335" MGI:1859661 RGD:1564481 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP11C 300516 objectId:867 HGNC:13554 "ENST00000682941.1|NM_001353812.2" HGNC:13816 ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "HK|H-K-ATPase" "ATPase, Na+K+ transporting, alpha-1 polypeptide-like|potassium-transporting ATPase alpha chain 2|proton pump|non-gastric H(+)/K(+) ATPase alpha subunit|sodium/potassium ATPase, alpha polypeptide-like" ATP1AL1 "ATPase, Na+/K+ transporting, alpha polypeptide-like 1|ATPase, H+/K+ transporting, nongastric, alpha polypeptide" ATPase H+/K+ transporting 1211 2000-11-09 2016-02-11 2023-01-20 479 ENSG00000075673 OTTHUMG00000016588 uc001upp.4 L42558 NM_001676 "CCDS53858|CCDS31948" P54707 "8838794|2842249|25322912" MGI:1926943 RGD:620569 182360 objectId:850 3.6.3.10 HGNC:13816 "ENST00000381946.5|NM_001676.7" HGNC:24215 ATP13A1 ATPase 13A1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KIAA1825|FLJ31858|CGI-152" cation transporting ATPase ATP13A "ATPase type 13A|ATPase type 13A1" ATPase orphan transporters 1213 2004-02-12 2005-01-12 2016-02-11 2023-01-20 57130 ENSG00000105726 OTTHUMG00000153016 uc002nnh.5 AK056420 NM_020410 CCDS32970 Q9HD20 11347906 MGI:2180801 RGD:1306033 619118 objectId:3155 HGNC:24215 "ENST00000357324.11|NM_020410.3" -HGNC:30213 ATP13A2 ATPase cation transporting 13A2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "HSA9947|CLN12" PARK9 "Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)|ATPase type 13A2|ATPase 13A2" ATPase orphan transporters 1213 2005-01-12 2018-02-27 2023-01-20 23400 ENSG00000159363 OTTHUMG00000002293 uc001baa.3 AL354615 NM_022089 "CCDS175|CCDS44073|CCDS44072" Q9NQ11 "15381061|16964263" MGI:1922022 RGD:1307977 LRG_834|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_834.xml 610513 121493 objectId:3156 HGNC:30213 "ENST00000326735.13|NM_022089.4" HGNC:30213 -HGNC:24113 ATP13A3 ATPase 13A3 protein-coding gene gene with protein product Approved 3q29 03q29 AFURS1 ATPase family homolog up regulated in senescence cells ATPase type 13A3 ATPase orphan transporters 1213 2005-01-12 2016-02-11 2023-01-20 79572 ENSG00000133657 OTTHUMG00000156034 uc062rov.1 AJ306929 NM_024524 "CCDS93438|CCDS43187" Q9H7F0 11867234 MGI:2685387 RGD:1590881 610232 objectId:3157 HGNC:24113 "ENST00000645319.2|NM_001367549.1" HGNC:24113 +HGNC:30213 ATP13A2 ATPase cation transporting 13A2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "HSA9947|CLN12" PARK9 "Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)|ATPase type 13A2|ATPase 13A2" ATPase orphan transporters 1213 2005-01-12 2018-02-27 2023-01-20 23400 ENSG00000159363 OTTHUMG00000002293 uc001baa.3 AL354615 NM_022089 "CCDS44072|CCDS44073|CCDS175" Q9NQ11 "15381061|16964263" MGI:1922022 RGD:1307977 LRG_834|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_834.xml 610513 121493 objectId:3156 HGNC:30213 "ENST00000326735.13|NM_022089.4" HGNC:30213 +HGNC:24113 ATP13A3 ATPase 13A3 protein-coding gene gene with protein product Approved 3q29 03q29 AFURS1 ATPase family homolog up regulated in senescence cells ATPase type 13A3 ATPase orphan transporters 1213 2005-01-12 2016-02-11 2023-01-20 79572 ENSG00000133657 OTTHUMG00000156034 uc062rov.1 AJ306929 NM_024524 "CCDS43187|CCDS93438" Q9H7F0 11867234 MGI:2685387 RGD:1590881 610232 objectId:3157 HGNC:24113 "ENST00000645319.2|NM_001367549.1" HGNC:24113 HGNC:48570 ATP13A3-DT ATP13A3 divergent transcript non-coding RNA RNA, long non-coding Approved 3q29 03q29 LINC00884 long intergenic non-protein coding RNA 884 Divergent transcripts 1990 2013-05-17 2021-07-12 2021-07-12 2021-07-12 401106 ENSG00000233058 OTTHUMG00000156037 NR_033929 LINC00884 HGNC:48570 HGNC:25422 ATP13A4 ATPase 13A4 protein-coding gene gene with protein product Approved 3q29 03q29 "DKFZp761I1011|FLJ37958" ATPase type 13A4 ATPase orphan transporters 1213 2005-01-12 2016-02-11 2023-01-20 84239 ENSG00000127249 OTTHUMG00000074067 uc003ftd.4 AK095277 NM_032279 CCDS3304 Q4VNC1 "14702039|12975309" MGI:1924456 RGD:1306927 609556 objectId:3158 HGNC:25422 "ENST00000342695.9|NM_032279.4" HGNC:41095 ATP13A4-AS1 ATP13A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 ATP13A4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2020-04-20 101929198 ENSG00000225473 OTTHUMG00000156102 uc062rmh.1 NR_046726 ATP13A4-AS1 HGNC:41095 HGNC:31789 ATP13A5 ATPase 13A5 protein-coding gene gene with protein product Approved 3q29 03q29 FLJ16025 ATPase type 13A5 ATPase orphan transporters 1213 2005-01-12 2016-02-11 2023-01-20 344905 ENSG00000187527 OTTHUMG00000156101 uc011bsq.3 AK122613 NM_198505 CCDS33914 Q4VNC0 MGI:2444068 RGD:1306792 619119 objectId:3159 HGNC:31789 "ENST00000342358.9|NM_198505.4" HGNC:41281 ATP13A5-AS1 ATP13A5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 ATP13A5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874218 ENSG00000236508 OTTHUMG00000156106 uc062rlw.1 NR_046758 ATP13A5-AS1 HGNC:41281 HGNC:29452 ATP23 ATP23 metallopeptidase and ATP synthase assembly factor homolog protein-coding gene gene with protein product Approved 12q14.1 12q14.1 KUB3 Ku70 binding protein 3 XRCC6BP1 "XRCC6 binding protein 1|ATP23 metallopeptidase and ATP synthase assembly factor homolog (S. cerevisiae)" M76 metallopeptidase family 2108 2006-01-09 2016-02-12 2016-07-04 2023-01-20 91419 ENSG00000166896 OTTHUMG00000170493 uc001sqp.4 AF078164 NM_033276 CCDS41802 Q9Y6H3 "10219089|17135290" MGI:1916984 RGD:1588587 619760 M76.001 HGNC:29452 "ENST00000300145.4|NM_033276.4" -HGNC:18803 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 protein-coding gene gene with protein product Approved 1p33 01p33 "FLJ22351|Atp11p|ATP11" Mitochondrial respiratory chain complex assembly factors 645 2002-07-01 2023-03-15 64756 ENSG00000123472 OTTHUMG00000007988 uc001cqh.5 AK026004 NM_022745 "CCDS57998|CCDS541|CCDS90944|CCDS41327" Q5TC12 11410595 MGI:2180560 RGD:1305417 608917 377752 HGNC:18803 "ENST00000574428.6|NM_001394565.1" +HGNC:18803 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 protein-coding gene gene with protein product Approved 1p33 01p33 "FLJ22351|Atp11p|ATP11" Mitochondrial respiratory chain complex assembly factors 645 2002-07-01 2023-03-15 64756 ENSG00000123472 OTTHUMG00000007988 uc001cqh.5 AK026004 NM_022745 "CCDS90944|CCDS541|CCDS41327|CCDS57998" Q5TC12 11410595 MGI:2180560 RGD:1305417 608917 377752 HGNC:18803 "ENST00000574428.6|NM_001394565.1" HGNC:18802 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "Atp12p|ATP12|LP3663|MGC29736" Mitochondrial respiratory chain complex assembly factors 645 2002-07-01 2023-01-20 91647 ENSG00000171953 OTTHUMG00000059354 uc002gse.2 AF052185 NM_145691 CCDS32585 Q8N5M1 "11410595|11997338" MGI:2180561 RGD:1305161 608918 118892 HGNC:18802 "ENST00000474627.8|NM_145691.4" HGNC:18802 -HGNC:27029 ATPSCKMT ATP synthase c subunit lysine N-methyltransferase protein-coding gene gene with protein product Approved 5p15.2 05p15.2 JS-2 FAM173B "family with sequence similarity 173, member B|family with sequence similarity 173 member B" 7BS protein lysine methyltransferases 2056 2008-07-02 2018-12-21 2018-12-21 2023-01-20 134145 ENSG00000150756 OTTHUMG00000161771 uc003jeo.4 NM_199133 "CCDS43301|CCDS58942" Q6P4H8 "29444090|30530489" MGI:1915323 RGD:1560629 618568 HGNC:27029 "ENST00000511437.6|NM_199133.4" +HGNC:27029 ATPSCKMT ATP synthase c subunit lysine N-methyltransferase protein-coding gene gene with protein product Approved 5p15.2 05p15.2 JS-2 FAM173B "family with sequence similarity 173, member B|family with sequence similarity 173 member B" 7BS protein lysine methyltransferases 2056 2008-07-02 2018-12-21 2018-12-21 2023-01-20 134145 ENSG00000150756 OTTHUMG00000161771 uc003jeo.4 NM_199133 "CCDS58942|CCDS43301" Q6P4H8 "29444090|30530489" MGI:1915323 RGD:1560629 618568 HGNC:27029 "ENST00000511437.6|NM_199133.4" HGNC:882 ATR ATR serine/threonine kinase protein-coding gene gene with protein product Approved 3q23 03q23 "FRP1|SCKL|SCKL1|MEC1" MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae) ataxia telangiectasia and Rad3 related Armadillo like helical domain containing 1492 1998-04-06 2014-06-17 2023-01-20 545 ENSG00000175054 OTTHUMG00000159234 uc003eux.5 U76308 NM_001184 "CCDS93402|CCDS3124" Q13535 "8978690|8610130" MGI:108028 RGD:1305796 LRG_1403|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1403.xml ATR 601215 118896 objectId:1935 HGNC:882 "ENST00000350721.9|NM_001184.4" HGNC:882 HGNC:24090 ATRAID all-trans retinoic acid induced differentiation factor protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "HSPC013|p18|APR3" apoptosis-related protein 3 C2orf28 chromosome 2 open reading frame 28 2004-05-10 2012-07-30 2015-12-02 2023-03-15 51374 ENSG00000138085 OTTHUMG00000128405 uc061hlo.1 BC021237 NM_016085 "CCDS62877|CCDS46243" Q6UW56 "17524364|21723284|29745899|32434850" MGI:1918918 RGD:1311605 619682 HGNC:24090 "ENST00000380171.9|NM_001170795.4" -HGNC:33499 ATRIP ATR interacting protein protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ12343|MGC20625|MGC21482|MGC26740" Armadillo like helical domain containing 1492 2007-06-20 2023-03-15 84126 ENSG00000164053 OTTHUMG00000133532 uc003ctf.3 AF451323 NM_130384 "CCDS2768|CCDS2767|CCDS59449" Q8WXE1 11721054 MGI:1925349 606605 318853 HGNC:33499 "ENST00000320211.10|NM_130384.3" HGNC:33499 +HGNC:33499 ATRIP ATR interacting protein protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ12343|MGC20625|MGC21482|MGC26740" Armadillo like helical domain containing 1492 2007-06-20 2023-03-15 84126 ENSG00000164053 OTTHUMG00000133532 uc003ctf.3 AF451323 NM_130384 "CCDS59449|CCDS2768|CCDS2767" Q8WXE1 11721054 MGI:1925349 606605 318853 HGNC:33499 "ENST00000320211.10|NM_130384.3" HGNC:33499 HGNC:885 ATRN attractin protein-coding gene gene with protein product Approved 20p13 20p13 "DPPT-L|MGCA" mahogany protein C-type lectin domain containing 1298 1998-10-30 2023-01-20 8455 ENSG00000088812 OTTHUMG00000031746 uc002wim.3 AF034957 NM_139321 "CCDS13054|CCDS13053" O75882 "9736737|8596018" MGI:1341628 RGD:69063 603130 HGNC:885 "ENST00000262919.10|NM_139321.3" HGNC:29063 ATRNL1 attractin like 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "KIAA0534|FLJ45344|ALP" attractin-like 1 C-type lectin domain containing 1298 2004-03-04 2015-11-23 2023-01-20 26033 ENSG00000107518 OTTHUMG00000019096 uc001lcg.4 AB011106 NM_207303 "CCDS73204|CCDS7592" Q5VV63 9628581 MGI:2147749 RGD:1563485 612869 HGNC:29063 "ENST00000355044.8|NM_207303.4" -HGNC:886 ATRX ATRX chromatin remodeler protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "XH2|XNP" RAD54 homolog (S. cerevisiae) "RAD54|JMS|MRX52" "alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)|Juberg-Marsidi syndrome|mental retardation, X-linked 52|alpha thalassemia/mental retardation syndrome X-linked" RNA helicases 1168 1992-11-27 2019-01-18 2023-01-20 546 ENSG00000085224 OTTHUMG00000022686 uc004ecp.5 U72937 NM_000489 "CCDS14434|CCDS14435" P46100 "7874112|1415255|8503439|8630485" MGI:103067 RGD:619795 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATRX|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ATRX|LRG_1153|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1153.xml" ATRX 300032 118908 3.6.4.12 HGNC:886 "ENST00000373344.11|NM_000489.6" HGNC:886 -HGNC:10548 ATXN1 ataxin 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "D6S504E|ATX1" SCA1 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) 1986-01-01 2004-08-13 2004-08-12 2023-01-20 6310 ENSG00000124788 OTTHUMG00000014303 uc010jpi.3 X79204 NM_000332 "CCDS87367|CCDS34342" P54253 1582256 MGI:104783 RGD:3624 LRG_863|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_863.xml 601556 118913 HGNC:10548 "ENST00000436367.6|NM_001128164.2" HGNC:10548 +HGNC:886 ATRX ATRX chromatin remodeler protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "XH2|XNP" RAD54 homolog (S. cerevisiae) "RAD54|JMS|MRX52" "alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)|Juberg-Marsidi syndrome|mental retardation, X-linked 52|alpha thalassemia/mental retardation syndrome X-linked" RNA helicases 1168 1992-11-27 2019-01-18 2023-01-20 546 ENSG00000085224 OTTHUMG00000022686 uc004ecp.5 U72937 NM_000489 "CCDS14435|CCDS14434" P46100 "7874112|1415255|8503439|8630485" MGI:103067 RGD:619795 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATRX|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ATRX|LRG_1153|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1153.xml" ATRX 300032 118908 3.6.4.12 HGNC:886 "ENST00000373344.11|NM_000489.6" HGNC:886 +HGNC:10548 ATXN1 ataxin 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "D6S504E|ATX1" SCA1 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) 1986-01-01 2004-08-13 2004-08-12 2023-01-20 6310 ENSG00000124788 OTTHUMG00000014303 uc010jpi.3 X79204 NM_000332 "CCDS34342|CCDS87367" P54253 1582256 MGI:104783 RGD:3624 LRG_863|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_863.xml 601556 118913 HGNC:10548 "ENST00000436367.6|NM_001128164.2" HGNC:10548 HGNC:40515 ATXN1-AS1 ATXN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 AL137003.1 Antisense RNAs 1987 2019-07-24 2023-02-13 101928433 ENSG00000229931 OTTHUMG00000153136 NR_136240 MGI:1923250 HGNC:40515 HGNC:33279 ATXN1L ataxin 1 like protein-coding gene gene with protein product Approved 16q22.2 16q22.2 BOAT1 brother of ataxin 1 ataxin 1-like 2007-08-03 2016-01-19 2023-01-20 342371 ENSG00000224470 OTTHUMG00000176872 uc002fbd.3 NM_001137675.2 CCDS45523 P0C7T5 "16121196|17322884|21475249" MGI:3694797 RGD:9319286 614301 HGNC:33279 "ENST00000427980.7|NM_001137675.4" -HGNC:10555 ATXN2 ataxin 2 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 ATX2 trinucleotide repeat containing 13 "SCA2|TNRC13" spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) 1991-08-06 2004-08-13 2004-08-12 2023-01-20 6311 ENSG00000204842 OTTHUMG00000133475 uc001tsj.3 U80749 NM_002973 "CCDS91750|CCDS81739|CCDS31902|CCDS81738" Q99700 "8358438|9225980" MGI:1277223 RGD:1306637 LRG_864|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_864.xml 601517 118923 HGNC:10555 "ENST00000673436.1|NM_001372574.1" HGNC:10555 +HGNC:10555 ATXN2 ataxin 2 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 ATX2 trinucleotide repeat containing 13 "SCA2|TNRC13" spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) 1991-08-06 2004-08-13 2004-08-12 2023-01-20 6311 ENSG00000204842 OTTHUMG00000133475 uc001tsj.3 U80749 NM_002973 "CCDS81739|CCDS91750|CCDS81738|CCDS31902" Q99700 "8358438|9225980" MGI:1277223 RGD:1306637 LRG_864|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_864.xml 601517 118923 HGNC:10555 "ENST00000673436.1|NM_001372574.1" HGNC:10555 HGNC:51838 ATXN2-AS ATXN2 antisense RNA non-coding RNA RNA, long non-coding Approved 12q24.12 12q24.12 Antisense RNAs 1987 2016-05-12 2021-01-20 102723619 ENSG00000258099 OTTHUMG00000169599 NR_146497 27531668 HGNC:51838 -HGNC:31326 ATXN2L ataxin 2 like protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "A2lp|A2D" ataxin 2-like 2004-08-18 2016-01-19 2023-01-20 11273 ENSG00000168488 OTTHUMG00000097038 uc002dqy.5 NM_007245 "CCDS10641|CCDS76850|CCDS32423|CCDS58443|CCDS45451|CCDS10639|CCDS10640" Q8WWM7 "11784712|14769358" MGI:2446242 RGD:1565868 607931 HGNC:31326 "ENST00000336783.9|NM_007245.4" -HGNC:7106 ATXN3 ataxin 3 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "ATX3|JOS" "SCA3|MJD" Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) MJD deubiquinating enzymes 997 1987-09-11 2004-08-13 2004-08-12 2023-03-15 4287 ENSG00000066427 OTTHUMG00000162212 uc001yac.5 U64820 NM_004993 "CCDS53908|CCDS73680|CCDS9900|CCDS45154|CCDS32143" P54252 8358439 MGI:1099442 RGD:621567 LRG_865|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_865.xml 607047 118928 C86.001 HGNC:7106 "ENST00000644486.2|NM_004993.6" HGNC:7106 +HGNC:31326 ATXN2L ataxin 2 like protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "A2lp|A2D" ataxin 2-like 2004-08-18 2016-01-19 2023-01-20 11273 ENSG00000168488 OTTHUMG00000097038 uc002dqy.5 NM_007245 "CCDS10641|CCDS32423|CCDS76850|CCDS45451|CCDS58443|CCDS10640|CCDS10639" Q8WWM7 "11784712|14769358" MGI:2446242 RGD:1565868 607931 HGNC:31326 "ENST00000336783.9|NM_007245.4" +HGNC:7106 ATXN3 ataxin 3 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "ATX3|JOS" "SCA3|MJD" Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) MJD deubiquinating enzymes 997 1987-09-11 2004-08-13 2004-08-12 2023-03-15 4287 ENSG00000066427 OTTHUMG00000162212 uc001yac.5 U64820 NM_004993 "CCDS45154|CCDS32143|CCDS73680|CCDS9900|CCDS53908" P54252 8358439 MGI:1099442 RGD:621567 LRG_865|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_865.xml 607047 118928 C86.001 HGNC:7106 "ENST00000644486.2|NM_004993.6" HGNC:7106 HGNC:24173 ATXN3L ataxin 3 like protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MJDL ataxin 3-like MJD deubiquinating enzymes 997 2004-08-20 2016-01-19 2023-01-20 92552 ENSG00000123594 OTTHUMG00000021146 uc010ned.4 NM_001135995 CCDS48080 Q9H3M9 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATXN3L 300920 469972 C86.002 HGNC:24173 "ENST00000380622.5|NM_001135995.2" HGNC:10560 ATXN7 ataxin 7 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "OPCA3|ADCAII|SGF73" "Autosomal dominant cerebellar ataxia with retinal degeneration|SAGA associated factor 73 kDa homolog (S. cerevisiae)" SCA7 spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration) SAGA complex 1059 1995-02-22 2004-08-12 2004-08-12 2023-01-20 6314 ENSG00000163635 OTTHUMG00000158763 uc003dlw.5 AJ000517 NM_000333 "CCDS43102|CCDS46861|CCDS54603" O15265 "7647798|10598805|25755283" MGI:2179277 RGD:1562692 LRG_866|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_866.xml 607640 118934 HGNC:10560 "ENST00000674280.1|NM_001377405.1" HGNC:10560 -HGNC:22210 ATXN7L1 ataxin 7 like 1 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "KIAA1218|MGC33190" ATXN7L4 "ataxin 7-like 4|ataxin 7-like 1" 2004-08-18 2016-01-19 2023-01-20 222255 ENSG00000146776 OTTHUMG00000157521 uc003vde.3 AB033044 NM_001318229 "CCDS34727|CCDS47683|CCDS47682" Q9ULK2 15115762 MGI:3584458 RGD:1305730 HGNC:22210 "ENST00000419735.8|NM_020725.2" -HGNC:28713 ATXN7L2 ataxin 7 like 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "MGC46534|FLJ00381" ataxin 7-like 2 2004-08-18 2016-01-19 2023-01-20 127002 ENSG00000162650 OTTHUMG00000011027 uc001dxr.4 BC037582 NM_153340 "CCDS91019|CCDS91018|CCDS30794" Q5T6C5 12477932 MGI:1919772 RGD:1307047 HGNC:28713 "ENST00000683729.1|NM_001350175.2" -HGNC:25416 ATXN7L3 ataxin 7 like 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 DKFZp761G2113 ataxin 7-like 3 SAGA complex 1059 2004-08-18 2016-01-19 2023-01-20 56970 ENSG00000087152 OTTHUMG00000181812 uc002iga.4 AK056002 NM_020218 "CCDS45697|CCDS42345" Q14CW9 15115762 MGI:3036270 RGD:1311493 619010 HGNC:25416 "ENST00000587097.6|NM_001382309.1" +HGNC:22210 ATXN7L1 ataxin 7 like 1 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "KIAA1218|MGC33190" ATXN7L4 "ataxin 7-like 4|ataxin 7-like 1" 2004-08-18 2016-01-19 2023-01-20 222255 ENSG00000146776 OTTHUMG00000157521 uc003vde.3 AB033044 NM_001318229 "CCDS47682|CCDS34727|CCDS47683" Q9ULK2 15115762 MGI:3584458 RGD:1305730 HGNC:22210 "ENST00000419735.8|NM_020725.2" +HGNC:28713 ATXN7L2 ataxin 7 like 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "MGC46534|FLJ00381" ataxin 7-like 2 2004-08-18 2016-01-19 2023-01-20 127002 ENSG00000162650 OTTHUMG00000011027 uc001dxr.4 BC037582 NM_153340 "CCDS91018|CCDS91019|CCDS30794" Q5T6C5 12477932 MGI:1919772 RGD:1307047 HGNC:28713 "ENST00000683729.1|NM_001350175.2" +HGNC:25416 ATXN7L3 ataxin 7 like 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 DKFZp761G2113 ataxin 7-like 3 SAGA complex 1059 2004-08-18 2016-01-19 2023-01-20 56970 ENSG00000087152 OTTHUMG00000181812 uc002iga.4 AK056002 NM_020218 "CCDS42345|CCDS45697" Q14CW9 15115762 MGI:3036270 RGD:1311493 619010 HGNC:25416 "ENST00000587097.6|NM_001382309.1" HGNC:55298 ATXN7L3-AS1 ATXN7L3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Antisense RNAs 1987 2020-10-15 2020-10-15 2020-10-15 2020-10-15 101926967 ENSG00000267394 NR_184071 HGNC:37931 ATXN7L3B ataxin 7 like 3B protein-coding gene gene with protein product Approved 12q21.1 12q21.1 lnc-SCA7 ataxin 7-like 3B 2010-04-20 2016-01-19 2023-01-20 552889 ENSG00000253719 OTTHUMG00000163936 uc001sxd.5 NM_001136262 CCDS53815 Q96GX2 "25306109|27601583" MGI:1914971 RGD:2301984 615579 HGNC:37931 "ENST00000519948.4|NM_001136262.2" HGNC:54980 ATXN7L3P1 ATXN7L3 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 2020-05-14 2020-05-14 392485 ENSG00000215168 NG_022608 @@ -2081,16 +2081,16 @@ HGNC:32925 ATXN8 ataxin 8 protein-coding gene gene with protein product Approved HGNC:10561 ATXN8OS ATXN8 opposite strand lncRNA non-coding RNA RNA, long non-coding Approved 13q21.33 13q21.33 NCRNA00003 non-protein coding RNA 3 "SCA8|KLHL1AS" "spinocerebellar ataxia 8|kelch-like 1 antisense (Drosophila)|ATXN8 opposite strand (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 1998-04-01 2006-07-18 2018-05-16 2018-05-16 6315 ENSG00000230223 OTTHUMG00000017057 uc010aej.2 AF126749 NR_002717 P0DMR3 "10192387|16804541" 603680 158384 sca8 ATXN8OS HGNC:10561 HGNC:10549 ATXN10 ataxin 10 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "E46L|FLJ37990|ATX10" SCA10 spinocerebellar ataxia 10 "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 1999-04-16 2004-08-12 2004-08-12 2023-01-20 25814 ENSG00000130638 OTTHUMG00000150451 uc003bgm.3 AK095309 NM_013236 "CCDS54540|CCDS14070" Q9UBB4 "9973298|16498633" MGI:1859293 RGD:621813 611150 118918 HGNC:10549 "ENST00000252934.10|NM_013236.4" HGNC:10549 HGNC:890 AUH AU RNA binding methylglutaconyl-CoA hydratase protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "AU RNA-binding protein/enoyl-Coenzyme A hydratase|AU RNA binding protein/enoyl-Coenzyme A hydratase|AU RNA binding protein/enoyl-CoA hydratase" 1995-10-02 2016-07-21 2023-01-20 549 ENSG00000148090 OTTHUMG00000020207 uc004arf.5 X79888 NM_001306190 "CCDS6689|CCDS78409" Q13825 "7892223|24598254" MGI:1338011 RGD:1306087 LRG_449|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_449.xml 600529 118941 4.2.1.18 HGNC:890 "ENST00000375731.9|NM_001698.3" HGNC:890 -HGNC:28363 AUNIP aurora kinase A and ninein interacting protein protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "MGC2603|AIBp" C1orf135 chromosome 1 open reading frame 135 2005-07-05 2012-08-07 2012-08-07 2023-01-20 79000 ENSG00000127423 OTTHUMG00000007372 uc001bkw.3 NM_024037 "CCDS72731|CCDS266" Q9H7T9 20596670 MGI:1917135 RGD:1589922 620397 HGNC:28363 "ENST00000374298.4|NM_024037.3" +HGNC:28363 AUNIP aurora kinase A and ninein interacting protein protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "MGC2603|AIBp" C1orf135 chromosome 1 open reading frame 135 2005-07-05 2012-08-07 2012-08-07 2023-01-20 79000 ENSG00000127423 OTTHUMG00000007372 uc001bkw.3 NM_024037 "CCDS266|CCDS72731" Q9H7T9 20596670 MGI:1917135 RGD:1589922 620397 HGNC:28363 "ENST00000374298.4|NM_024037.3" HGNC:891 AUP1 AUP1 lipid droplet regulating VLDL assembly factor protein-coding gene gene with protein product Approved 2p13.1 02p13.1 ancient ubiquitous protein 1 1996-06-14 2019-01-22 2023-03-15 550 ENSG00000115307 OTTHUMG00000129964 uc002smf.4 NM_181575 CCDS42702 Q9Y679 "8812468|12042322" MGI:107789 RGD:1591777 602434 HGNC:891 "ENST00000377526.4|NM_181575.5" HGNC:11393 AURKA aurora kinase A protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "BTAK|AurA|STK7|ARK1|PPP1R47|AIK" "protein phosphatase 1, regulatory subunit 47|Aurora-A kinase" "STK15|STK6" "serine/threonine kinase 15| serine/threonine kinase 6" Protein phosphatase 1 regulatory subunits 694 1998-10-02 2003-07-23 2003-07-21 2023-01-20 6790 ENSG00000087586 OTTHUMG00000032796 uc002xxg.2 BC001280 NM_003600 CCDS13451 O14965 "9174055|9771714" MGI:894678 RGD:628895 603072 objectId:1936 HGNC:11393 "ENST00000395915.8|NM_198437.3" HGNC:11393 HGNC:24114 AURKAIP1 aurora kinase A interacting protein 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "AKIP|AIP|FLJ20608" 2005-07-18 2023-01-20 54998 ENSG00000175756 OTTHUMG00000001413 uc001afc.3 NM_017900 CCDS25 Q9NWT8 12244051 MGI:1913327 609183 HGNC:24114 "ENST00000338338.10|NM_017900.3" HGNC:18611 AURKAP1 aurora kinase A pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 AurAps1 "STK6P|AURKAPS1" serine/threonine kinase 6 pseudogene 2003-07-21 2018-05-23 2020-01-10 6791 ENSG00000213033 OTTHUMG00000037286 BC050630 NR_001587 "9605851|31873123" PGOHUM00000244426 HGNC:18611 HGNC:18612 AURKAP2 aurora kinase A pseudogene 2 pseudogene pseudogene Approved 10q25.3 10q25.3 STK6LP AURKAPS2 2003-07-21 2018-05-23 2018-05-23 386665 ENSG00000230165 OTTHUMG00000019084 NG_003111 HGNC:18612 -HGNC:11390 AURKB aurora kinase B protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "Aik2|IPL1|AurB|AIM-1|ARK2|STK5|PPP1R48" "aurora-B|aurora-1|protein phosphatase 1, regulatory subunit 48|aurora- and Ipl1-like midbody-associated protein 1 homolog (rat)" STK12 serine/threonine kinase 12 "Protein phosphatase 1 regulatory subunits|Chromosomal passenger complex" "694|1338" 1999-01-29 2003-07-23 2003-07-21 2023-01-20 9212 ENSG00000178999 OTTHUMG00000108189 uc002gkm.5 AF004022 NM_004217 "CCDS82065|CCDS58514|CCDS11134|CCDS67162" Q96GD4 9858806 MGI:107168 RGD:621625 604970 objectId:1937 HGNC:11390 "ENST00000585124.6|NM_004217.4" +HGNC:11390 AURKB aurora kinase B protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "Aik2|IPL1|AurB|AIM-1|ARK2|STK5|PPP1R48" "aurora-B|aurora-1|protein phosphatase 1, regulatory subunit 48|aurora- and Ipl1-like midbody-associated protein 1 homolog (rat)" STK12 serine/threonine kinase 12 "Protein phosphatase 1 regulatory subunits|Chromosomal passenger complex" "694|1338" 1999-01-29 2003-07-23 2003-07-21 2023-01-20 9212 ENSG00000178999 OTTHUMG00000108189 uc002gkm.5 AF004022 NM_004217 "CCDS58514|CCDS82065|CCDS11134|CCDS67162" Q96GD4 9858806 MGI:107168 RGD:621625 604970 objectId:1937 HGNC:11390 "ENST00000585124.6|NM_004217.4" HGNC:18613 AURKBP1 aurora kinase B pseudogene 1 pseudogene pseudogene Approved 8q23.1 08q23.1 AurBps1 AURKBPS1 2003-07-21 2018-05-23 2020-04-20 644233 ENSG00000230948 NG_022401 PGOHUM00000303351 HGNC:18613 -HGNC:11391 AURKC aurora kinase C protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "AurC|ARK3" STK13 serine/threonine kinase 13 (aurora/IPL1-like) 1998-05-13 2003-07-23 2003-07-21 2023-01-20 6795 ENSG00000105146 OTTHUMG00000183106 uc002qoe.4 NM_003160 "CCDS46205|CCDS33128|CCDS46206" Q9UQB9 9799611 MGI:1321119 RGD:1309573 603495 160048 objectId:1938 HGNC:11391 "ENST00000302804.12|NM_001015878.2" HGNC:11391 -HGNC:14262 AUTS2 activator of transcription and developmental regulator AUTS2 protein-coding gene gene with protein product Approved 7q11.22 07q11.22 "KIAA0442|FBRSL2" autism susceptibility candidate 2 2002-11-20 2019-01-21 2023-01-20 26053 ENSG00000158321 OTTHUMG00000023865 uc003tvw.5 AF326917 NM_001127231 "CCDS47602|CCDS47601|CCDS5539" Q8WXX7 "12160723|25519132" MGI:1919847 RGD:2323959 607270 159134 HGNC:14262 "ENST00000342771.10|NM_015570.4" HGNC:14262 +HGNC:11391 AURKC aurora kinase C protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "AurC|ARK3" STK13 serine/threonine kinase 13 (aurora/IPL1-like) 1998-05-13 2003-07-23 2003-07-21 2023-01-20 6795 ENSG00000105146 OTTHUMG00000183106 uc002qoe.4 NM_003160 "CCDS46206|CCDS33128|CCDS46205" Q9UQB9 9799611 MGI:1321119 RGD:1309573 603495 160048 objectId:1938 HGNC:11391 "ENST00000302804.12|NM_001015878.2" HGNC:11391 +HGNC:14262 AUTS2 activator of transcription and developmental regulator AUTS2 protein-coding gene gene with protein product Approved 7q11.22 07q11.22 "KIAA0442|FBRSL2" autism susceptibility candidate 2 2002-11-20 2019-01-21 2023-01-20 26053 ENSG00000158321 OTTHUMG00000023865 uc003tvw.5 AF326917 NM_001127231 "CCDS47601|CCDS5539|CCDS47602" Q8WXX7 "12160723|25519132" MGI:1919847 RGD:2323959 607270 159134 HGNC:14262 "ENST00000342771.10|NM_015570.4" HGNC:14262 HGNC:13509 AVEN apoptosis and caspase activation inhibitor protein-coding gene gene with protein product Approved 15q14 15q14 PDCD12 "cell death regulator aven|programmed cell death 12" 2002-09-17 2008-07-07 2016-02-05 2023-01-20 57099 ENSG00000169857 OTTHUMG00000129371 uc001zhj.4 AF283508 NM_020371 CCDS10030 Q9NQS1 10949025 MGI:1921518 RGD:1309928 605265 HGNC:13509 "ENST00000306730.8|NM_020371.3" HGNC:14188 AVIL advillin protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "p92|FLJ12386|ADVIL|DOC6" Gelsolin/villins 950 2002-09-02 2023-01-20 10677 ENSG00000135407 OTTHUMG00000170461 uc001sqj.4 AF041449 NM_006576 CCDS8959 O75366 "9664034|12034507" MGI:1333798 RGD:620301 613397 HGNC:14188 "ENST00000549994.2|NM_006576.4" HGNC:28994 AVL9 AVL9 cell migration associated protein-coding gene gene with protein product Approved 7p14.3 07p14.3 KIAA0241 "KIAA0241|AVL9 homolog (S. cerevisiase)" DENN domain containing 504 2006-02-13 2008-10-03 2016-02-03 2023-01-20 23080 ENSG00000105778 OTTHUMG00000152929 uc003tcv.2 D87682 NM_015060 "CCDS94078|CCDS34613" Q8NBF6 "17229886|22595670" MGI:1926187 RGD:1564615 612927 HGNC:28994 "ENST00000318709.9|NM_015060.3" @@ -2103,14 +2103,14 @@ HGNC:897 AVPR2 arginine vasopressin receptor 2 protein-coding gene gene with pro HGNC:23252 AWAT1 acyl-CoA wax alcohol acyltransferase 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 DGAT2L3 diacylglycerol O-acyltransferase 2-like 3 Diacylglycerol O-acyltransferase 2 family 1235 2004-05-28 2009-02-23 2009-02-23 2023-01-20 158833 ENSG00000204195 OTTHUMG00000021773 uc004dxy.4 BC039181 NM_001013579 CCDS35321 Q58HT5 "14970677|15671038" MGI:3588200 RGD:1587163 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DGAT2L3 300924 HGNC:23252 "ENST00000374521.4|NM_001013579.3" HGNC:23251 AWAT2 acyl-CoA wax alcohol acyltransferase 2 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 MFAT multifunctional O-acyltransferase DGAT2L4 diacylglycerol O-acyltransferase 2-like 4 Diacylglycerol O-acyltransferase 2 family 1235 2004-05-28 2009-02-23 2009-02-23 2023-01-20 158835 ENSG00000147160 OTTHUMG00000021763 uc004dxt.1 BC063698 NM_001002254 CCDS35320 Q6E213 "14970677|16106050|15671038" MGI:3045345 RGD:1565111 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AWAT2 300925 HGNC:23251 "ENST00000276101.7|NM_001002254.1" HGNC:26564 AXDND1 axonemal dynein light chain domain containing 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 FLJ32940 C1orf125 chromosome 1 open reading frame 125 2005-06-23 2011-02-18 2011-02-18 2023-03-15 126859 ENSG00000162779 OTTHUMG00000035266 uc001gmo.3 BX647935 NM_144696 CCDS30948 Q5T1B0 14702039 MGI:1924602 RGD:1566124 HGNC:26564 "ENST00000367618.8|NM_144696.6" -HGNC:903 AXIN1 axin 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 PPP1R49 protein phosphatase 1, regulatory subunit 49 Protein phosphatase 1 regulatory subunits 694 1998-09-17 2023-01-20 8312 ENSG00000103126 OTTHUMG00000064930 uc002cgp.3 AF009674 NM_003502 "CCDS10405|CCDS10406" O15169 9230313 MGI:1096327 RGD:620859 AXIN1 603816 469974 HGNC:903 "ENST00000262320.8|NM_003502.4" HGNC:903 +HGNC:903 AXIN1 axin 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 PPP1R49 protein phosphatase 1, regulatory subunit 49 Protein phosphatase 1 regulatory subunits 694 1998-09-17 2023-01-20 8312 ENSG00000103126 OTTHUMG00000064930 uc002cgp.3 AF009674 NM_003502 "CCDS10406|CCDS10405" O15169 9230313 MGI:1096327 RGD:620859 AXIN1 603816 469974 HGNC:903 "ENST00000262320.8|NM_003502.4" HGNC:903 HGNC:904 AXIN2 axin 2 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 "MGC126582|DKFZp781B0869" "conductin|axil" 1998-09-17 2008-08-01 2023-01-20 8313 ENSG00000168646 OTTHUMG00000179353 uc002jfi.4 AF078165 NM_004655 "CCDS86634|CCDS11662" Q9Y2T1 10049590 MGI:1270862 RGD:69259 LRG_296|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_296.xml AXIN2 604025 118954 HGNC:904 "ENST00000307078.10|NM_004655.4" HGNC:904 -HGNC:905 AXL AXL receptor tyrosine kinase protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "UFO|JTK11|Tyro7|ARK" "Receptor tyrosine kinases|Fibronectin type III domain containing|V-set domain containing" "321|555|590" 1992-09-15 2023-01-20 558 ENSG00000167601 OTTHUMG00000182727 uc010ehj.5 M76125 NM_001278599 "CCDS12574|CCDS12575|CCDS62677" P30530 1656220 MGI:1347244 RGD:620028 109135 objectId:1835 2.7.10.1 HGNC:905 "ENST00000301178.9|NM_021913.5" +HGNC:905 AXL AXL receptor tyrosine kinase protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "UFO|JTK11|Tyro7|ARK" "Receptor tyrosine kinases|Fibronectin type III domain containing|V-set domain containing" "321|555|590" 1992-09-15 2023-01-20 558 ENSG00000167601 OTTHUMG00000182727 uc010ehj.5 M76125 NM_001278599 "CCDS62677|CCDS12575|CCDS12574" P30530 1656220 MGI:1347244 RGD:620028 109135 objectId:1835 2.7.10.1 HGNC:905 "ENST00000301178.9|NM_021913.5" HGNC:910 AZGP1 alpha-2-glycoprotein 1, zinc-binding protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "ZA2G|ZAG" alpha-2-glycoprotein 1, zinc C1-set domain containing 591 1991-09-12 2006-11-07 2023-01-20 563 ENSG00000160862 OTTHUMG00000023066 uc003ush.4 BC005306 NM_001185 CCDS5680 P25311 2049092 MGI:103163 RGD:2187 194460 HGNC:910 "ENST00000292401.9|NM_001185.4" HGNC:911 AZGP1P1 AZGP1 pseudogene 1 pseudogene pseudogene Approved 7q22.1 07q22.1 "alpha-2-glycoprotein 1, zinc pseudogene 1|alpha-2-glycoprotein 1, zinc-binding pseudogene 1" 1993-04-22 2019-01-18 2019-01-18 646282 ENSG00000214313 OTTHUMG00000156513 AW995302 NR_036679 "8241150|8307568" HGNC:911 HGNC:912 AZGP1P2 AZGP1 pseudogene 2 pseudogene pseudogene Approved 7q22.1 07q22.1 "alpha-2-glycoprotein 1, zinc pseudogene 2|alpha-2-glycoprotein 1, zinc-binding pseudogene 2" 1994-09-08 2019-01-18 2019-01-18 401393 ENSG00000214252 OTTHUMG00000157108 NG_008494 "8241150|8307568" HGNC:912 -HGNC:24002 AZI2 5-azacytidine induced 2 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 "NAP1|FLJ21939|AZ2" 2004-07-15 2023-01-20 64343 ENSG00000163512 OTTHUMG00000130573 uc003ceb.5 AC093142 NM_203326 "CCDS46782|CCDS46783|CCDS2647" Q9H6S1 10580148 MGI:1351332 RGD:1310530 609916 HGNC:24002 "ENST00000479665.6|NM_022461.5" -HGNC:16432 AZIN1 antizyme inhibitor 1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "OAZI|ODC1L" ornithine decarboxylase 1-like OAZIN ornithine decarboxylase antizyme inhibitor 2001-08-21 2005-03-21 2005-03-21 2023-01-20 51582 ENSG00000155096 OTTHUMG00000164766 uc003yky.4 AAC25391 NM_001301668 "CCDS94325|CCDS6295" O14977 "9349715|9110174" MGI:1859169 RGD:61934 607909 HGNC:16432 "ENST00000337198.10|NM_148174.4" +HGNC:24002 AZI2 5-azacytidine induced 2 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 "NAP1|FLJ21939|AZ2" 2004-07-15 2023-01-20 64343 ENSG00000163512 OTTHUMG00000130573 uc003ceb.5 AC093142 NM_203326 "CCDS2647|CCDS46782|CCDS46783" Q9H6S1 10580148 MGI:1351332 RGD:1310530 609916 HGNC:24002 "ENST00000479665.6|NM_022461.5" +HGNC:16432 AZIN1 antizyme inhibitor 1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "OAZI|ODC1L" ornithine decarboxylase 1-like OAZIN ornithine decarboxylase antizyme inhibitor 2001-08-21 2005-03-21 2005-03-21 2023-01-20 51582 ENSG00000155096 OTTHUMG00000164766 uc003yky.4 AAC25391 NM_001301668 "CCDS6295|CCDS94325" O14977 "9349715|9110174" MGI:1859169 RGD:61934 607909 HGNC:16432 "ENST00000337198.10|NM_148174.4" HGNC:29957 AZIN2 antizyme inhibitor 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "ODC-p|ODC1L|KIAA1945|ODCp" ornithine decarboxylase like ADC arginine decarboxylase 2005-06-06 2014-06-10 2014-06-10 2023-01-20 113451 ENSG00000142920 OTTHUMG00000004130 AY050635 NM_001293562 "CCDS375|CCDS76138" Q96A70 "11587527|14738999|17900240" MGI:2442093 RGD:1564776 608353 objectId:1270 4.1.1.19 HGNC:29957 "ENST00000294517.11|NM_052998.4" HGNC:913 AZU1 azurocidin 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "AZU|CAP37|AZAMP|HBP|NAZC|HUMAZUR" "cationic antimicrobial protein 37|heparin-binding protein|neutrophil azurocidin" Granule associated serine proteases of immune defence 1636 1992-10-21 2008-08-01 2023-01-20 566 ENSG00000172232 OTTHUMG00000187023 uc002lpz.2 X58794 NM_001700 CCDS12044 P20160 1919011 162815 S01.971 HGNC:913 "ENST00000233997.4|NM_001700.5" HGNC:49098 AZU1P1 azurocidin 1 pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 2013-09-02 2013-09-02 106480244 ENSG00000270444 OTTHUMG00000184719 NG_043843 PGOHUM00000248374 HGNC:49098 @@ -2146,34 +2146,34 @@ HGNC:28714 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 HGNC:21727 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 B3GNT8 Glycosyltransferase family 2 428 2003-07-17 2004-01-14 2017-02-20 2023-01-20 146712 ENSG00000175711 OTTHUMG00000177788 uc002kgg.1 AY634364 NM_001009905 "CCDS82232|CCDS32778" Q67FW5 MGI:2441705 RGD:1359497 615337 HGNC:21727 "ENST00000320865.4|NM_001009905.3" HGNC:51317 B3GNTL1P1 B3GNTL1 pseudogene 1 pseudogene pseudogene Approved 5q11.2 05q11.2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 pseudogene 1 2014-10-01 2019-01-21 2019-01-21 106481968 ENSG00000251237 OTTHUMG00000162172 NG_045397 PGOHUM00000300948 HGNC:51317 HGNC:51318 B3GNTL1P2 B3GNTL1 pseudogene 2 pseudogene pseudogene Approved 6p12.3 06p12.3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 pseudogene 2 2014-10-01 2019-01-21 2019-01-21 106480419 ENSG00000271328 OTTHUMG00000184538 NG_043195 PGOHUM00000301806 HGNC:51318 -HGNC:4117 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 beta1-4GalNAc-T GD2 synthase, GM2 synthase "GALGT|SPG26" "UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)|UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1|spastic paraplegia 26" Beta 4-glycosyltransferases 425 1998-01-29 2006-01-08 2016-02-22 2023-01-20 2583 ENSG00000135454 OTTHUMG00000170190 uc001spg.3 M83651 NM_001478 "CCDS8950|CCDS61170|CCDS61171" Q00973 "1601877|23746551" MGI:1342057 RGD:620490 601873 358571 2.4.1.92 HGNC:4117 "ENST00000341156.9|NM_001478.5" HGNC:4117 -HGNC:24136 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "Sda|Cad" GALGT2 UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase Beta 4-glycosyltransferases 425 2004-02-20 2006-01-08 2016-02-22 2023-01-20 124872 ENSG00000167080 OTTHUMG00000161307 uc002ion.3 AJ517770 NM_153446 "CCDS54140|CCDS54139|CCDS11544" Q8NHY0 "8782649|12678917" MGI:1342058 RGD:1592405 111730 2.4.1.- HGNC:24136 "ENST00000393354.7|NM_001159387.2" +HGNC:4117 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 beta1-4GalNAc-T GD2 synthase, GM2 synthase "GALGT|SPG26" "UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)|UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1|spastic paraplegia 26" Beta 4-glycosyltransferases 425 1998-01-29 2006-01-08 2016-02-22 2023-01-20 2583 ENSG00000135454 OTTHUMG00000170190 uc001spg.3 M83651 NM_001478 "CCDS8950|CCDS61171|CCDS61170" Q00973 "1601877|23746551" MGI:1342057 RGD:620490 601873 358571 2.4.1.92 HGNC:4117 "ENST00000341156.9|NM_001478.5" HGNC:4117 +HGNC:24136 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "Sda|Cad" GALGT2 UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase Beta 4-glycosyltransferases 425 2004-02-20 2006-01-08 2016-02-22 2023-01-20 124872 ENSG00000167080 OTTHUMG00000161307 uc002ion.3 AJ517770 NM_153446 "CCDS54139|CCDS54140|CCDS11544" Q8NHY0 "8782649|12678917" MGI:1342058 RGD:1592405 111730 2.4.1.- HGNC:24136 "ENST00000393354.7|NM_001159387.2" HGNC:51319 B4GALNT2P1 B4GALNT2 pseudogene 1 pseudogene pseudogene Approved 17q21.32 17q21.32 beta-1,4-N-acetyl-galactosaminyltransferase 2 pseudogene 1 2014-10-01 2019-01-21 2019-01-21 106481717 ENSG00000248883 OTTHUMG00000161236 NG_043355 PGOHUM00000294471 HGNC:51319 HGNC:24137 B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "B4GalNac-T3|FLJ16224|FLJ40362" Beta 4-glycosyltransferases 425 2006-01-08 2016-02-22 2023-01-20 283358 ENSG00000139044 OTTHUMG00000129283 uc001qii.2 AB089940 NM_173593 CCDS8504 Q6L9W6 12966086 MGI:3041155 RGD:1561056 612220 2.4.1.- HGNC:24137 "ENST00000266383.10|NM_173593.4" HGNC:26315 B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ25045|NGalNAc-T1" N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase Beta 4-glycosyltransferases 425 2006-01-08 2016-02-22 2023-01-20 338707 ENSG00000182272 OTTHUMG00000119075 uc001lpb.4 AB089939 NM_178537 CCDS7694 Q76KP1 15044014 MGI:2652891 RGD:1310052 618560 "2.4.1.244|2.4.1.92" HGNC:26315 "ENST00000329962.11|NM_178537.5" HGNC:924 B4GALT1 beta-1,4-galactosyltransferase 1 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 beta4Gal-T1 "lactose synthase A|N-acetyllactosamine synthase|Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase" GGTB2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 Beta 4-glycosyltransferases 425 2001-06-22 2016-03-15 2023-01-20 2683 ENSG00000086062 OTTHUMG00000019764 uc003zsg.3 X14085 NM_001497 "CCDS94396|CCDS6535" P15291 9597550 MGI:95705 RGD:620900 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 137060 118962 "2.4.1.133|2.4.1.38|2.4.1.22|2.4.1.90" HGNC:924 "ENST00000379731.5|NM_001497.4" HGNC:924 HGNC:49910 B4GALT1-AS1 B4GALT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p21.1 09p21.1 Antisense RNAs 1987 2014-03-21 2018-08-03 101929639 ENSG00000233554 OTTHUMG00000019763 NR_108108 26315939 B4GALT1-AS1 HGNC:49910 -HGNC:925 B4GALT2 beta-1,4-galactosyltransferase 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 beta4Gal-T2 "lactose synthase A|Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase|N-acetyllactosamine synthase" UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 Beta 4-glycosyltransferases 425 1998-12-02 2016-03-15 2023-01-20 8704 ENSG00000117411 OTTHUMG00000008296 uc001clg.4 AF038660 NM_003780 "CCDS506|CCDS55596" O60909 "9405390|9597550" MGI:1858493 RGD:1305358 604013 "2.4.1.38|2.4.1.90" HGNC:925 "ENST00000372324.6|NM_003780.5" +HGNC:925 B4GALT2 beta-1,4-galactosyltransferase 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 beta4Gal-T2 "lactose synthase A|Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase|N-acetyllactosamine synthase" UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 Beta 4-glycosyltransferases 425 1998-12-02 2016-03-15 2023-01-20 8704 ENSG00000117411 OTTHUMG00000008296 uc001clg.4 AF038660 NM_003780 "CCDS55596|CCDS506" O60909 "9405390|9597550" MGI:1858493 RGD:1305358 604013 "2.4.1.38|2.4.1.90" HGNC:925 "ENST00000372324.6|NM_003780.5" HGNC:926 B4GALT3 beta-1,4-galactosyltransferase 3 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 beta4Gal-T3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 Beta 4-glycosyltransferases 425 1998-12-02 2016-03-15 2023-01-20 8703 ENSG00000158850 OTTHUMG00000034348 uc001fyr.3 BC006099 NM_003779 CCDS1222 O60512 "9405390|9597550" MGI:1928767 RGD:1359221 604014 HGNC:926 "ENST00000319769.10|NM_003779.4" HGNC:927 B4GALT4 beta-1,4-galactosyltransferase 4 protein-coding gene gene with protein product Approved 3q13.32 03q13.32 beta4Gal-T4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 Beta 4-glycosyltransferases 425 1998-12-02 2016-03-15 2023-01-20 8702 ENSG00000121578 OTTHUMG00000159358 uc003eci.4 AF022367 NM_003778 CCDS2986 O60513 "9597550|9792633" MGI:1928387 RGD:1307880 604015 2.4.1.275 HGNC:927 "ENST00000393765.7|NM_003778.4" HGNC:40090 B4GALT4-AS1 B4GALT4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.32 03q13.32 B4GALT4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2016-10-05 100874201 ENSG00000240254 OTTHUMG00000159385 uc062mtc.1 NR_046574 B4GALT4-AS1 HGNC:40090 HGNC:928 B4GALT5 beta-1,4-galactosyltransferase 5 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 beta4GalT-V beta4-GalT IV UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 Beta 4-glycosyltransferases 425 1999-03-15 2016-03-15 2023-01-20 9334 ENSG00000158470 OTTHUMG00000033086 uc002xuu.5 AB004550 NM_004776 CCDS13420 O43286 "9597550|9435216" MGI:1927169 RGD:1310062 604016 "2.4.1.38|2.4.1.90" HGNC:928 "ENST00000371711.4|NM_004776.4" -HGNC:929 B4GALT6 beta-1,4-galactosyltransferase 6 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 beta4GalT-VI UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 Beta 4-glycosyltransferases 425 1999-03-15 2016-03-15 2023-01-20 9331 ENSG00000118276 OTTHUMG00000131980 uc002kwz.5 AF038664 NM_004775 "CCDS11900|CCDS82245" Q9UBX8 "9597550|12180132" MGI:1928380 RGD:71046 604017 469976 HGNC:929 "ENST00000306851.10|NM_004775.5" +HGNC:929 B4GALT6 beta-1,4-galactosyltransferase 6 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 beta4GalT-VI UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 Beta 4-glycosyltransferases 425 1999-03-15 2016-03-15 2023-01-20 9331 ENSG00000118276 OTTHUMG00000131980 uc002kwz.5 AF038664 NM_004775 "CCDS82245|CCDS11900" Q9UBX8 "9597550|12180132" MGI:1928380 RGD:71046 604017 469976 HGNC:929 "ENST00000306851.10|NM_004775.5" HGNC:930 B4GALT7 beta-1,4-galactosyltransferase 7 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "XGALT-1|beta4Gal-T7" galactosyltransferase I xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 Beta 4-glycosyltransferases 425 1999-12-07 2016-03-15 2023-01-20 11285 ENSG00000027847 OTTHUMG00000130851 uc003mhy.4 AB028600 NM_007255 CCDS4429 Q9UBV7 "10438455|10473568|15211654|24052259" MGI:2384987 RGD:1309214 604327 118966 2.4.1.133 HGNC:930 "ENST00000029410.10|NM_007255.3" HGNC:930 HGNC:15685 B4GAT1 beta-1,4-glucuronyltransferase 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "IGnT|iGAT|BETA3GNTI|B3GN-T1" N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase "B3GNT6|B3GNT1" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1" 2001-05-22 2014-12-17 2014-12-17 2023-01-20 11041 ENSG00000174684 OTTHUMG00000167082 AF029893 NM_006876 CCDS8136 O43505 "9405606|25279697|25279699" MGI:1919680 RGD:1309541 605517 332043 2.4.1.- HGNC:15685 "ENST00000311181.5|NM_006876.3" HGNC:15685 HGNC:56070 B4GAT1-DT B4GAT1 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Divergent transcripts 1990 2021-12-13 2021-12-13 102724064 ENSG00000255468 NR_135761 -HGNC:24123 B9D1 B9 domain containing 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "B9|EPPB9|MKS9|MKSR-1" endothelial precursor protein B9 B9 protein domain 1 "B9 domain containing|MKS complex|MicroRNA protein coding host genes" "1535|1545|1691" 2007-08-21 2016-05-16 2023-03-15 27077 ENSG00000108641 OTTHUMG00000059586 uc002gvk.5 BC002944 NM_015681 "CCDS92272|CCDS92271|CCDS82086|CCDS82087|CCDS82089|CCDS11205|CCDS86584" Q9UPM9 21493627 MGI:1351471 RGD:1305522 LRG_686|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_686.xml 614144 270354 HGNC:24123 "ENST00000261499.11|NM_015681.6" HGNC:24123 +HGNC:24123 B9D1 B9 domain containing 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "B9|EPPB9|MKS9|MKSR-1" endothelial precursor protein B9 B9 protein domain 1 "B9 domain containing|MKS complex|MicroRNA protein coding host genes" "1535|1545|1691" 2007-08-21 2016-05-16 2023-03-15 27077 ENSG00000108641 OTTHUMG00000059586 uc002gvk.5 BC002944 NM_015681 "CCDS11205|CCDS82089|CCDS82086|CCDS92271|CCDS82087|CCDS92272|CCDS86584" Q9UPM9 21493627 MGI:1351471 RGD:1305522 LRG_686|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_686.xml 614144 270354 HGNC:24123 "ENST00000261499.11|NM_015681.6" HGNC:24123 HGNC:28636 B9D2 B9 domain containing 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "MGC4093|MKS10|MKSR-2" B9 protein domain 2 "B9 domain containing|MKS complex" "1535|1545" 2007-08-21 2017-08-07 2023-01-20 80776 ENSG00000123810 OTTHUMG00000182758 uc002oqj.3 BC004157 NM_030578 CCDS12579 Q9BPU9 21763481 MGI:2387643 RGD:1566122 611951 279753 HGNC:28636 "ENST00000243578.8|NM_030578.4" HGNC:28636 -HGNC:14333 BAALC BAALC binder of MAP3K1 and KLF4 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 BAALC, MEKK1 and KLF4 binding "brain and acute leukemia, cytoplasmic|BAALC, MAP3K1 and KLF4 binding" MicroRNA protein coding host genes 1691 2001-01-26 2019-01-25 2023-01-20 79870 ENSG00000164929 OTTHUMG00000164782 uc003yld.4 AF363578 NM_001024372 "CCDS94326|CCDS47906|CCDS6297" Q8WXS3 "11707601|26050649" MGI:1928704 RGD:628703 606602 HGNC:14333 "ENST00000309982.10|NM_024812.3" +HGNC:14333 BAALC BAALC binder of MAP3K1 and KLF4 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 BAALC, MEKK1 and KLF4 binding "brain and acute leukemia, cytoplasmic|BAALC, MAP3K1 and KLF4 binding" MicroRNA protein coding host genes 1691 2001-01-26 2019-01-25 2023-01-20 79870 ENSG00000164929 OTTHUMG00000164782 uc003yld.4 AF363578 NM_001024372 "CCDS6297|CCDS47906|CCDS94326" Q8WXS3 "11707601|26050649" MGI:1928704 RGD:628703 606602 HGNC:14333 "ENST00000309982.10|NM_024812.3" HGNC:50461 BAALC-AS1 BAALC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 "lncFZD6|FZD6-DT" FZD6 divergent transcript Antisense RNAs 1987 2014-04-30 2018-03-16 100499183 ENSG00000247081 OTTHUMG00000164798 NR_109954 29535420 BAALC-AS1 HGNC:50461 HGNC:28595 BAALC-AS2 BAALC antisense RNA 2 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 MGC39526 "C8orf56|BAALCOS" "chromosome 8 open reading frame 56|BAALC opposite strand" Antisense RNAs 1987 2005-09-02 2014-10-03 2014-10-03 2014-10-03 157556 ENSG00000236939 OTTHUMG00000164781 BC029562 NR_027071 P0C853 12477932 BAALC-AS2 HGNC:28595 HGNC:932 BAAT bile acid-CoA:amino acid N-acyltransferase protein-coding gene gene with protein product Approved 9q31.1 09q31.1 BAT glycine N-choloyltransferase "bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)|bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)" 1996-03-13 2015-11-11 2023-01-20 570 ENSG00000136881 OTTHUMG00000020377 uc010mtd.3 L34081 NM_001701 CCDS6752 Q14032 MGI:106642 RGD:2190 602938 244706 S09.A50 2.3.1.65 HGNC:932 "ENST00000259407.7|NM_001701.4" HGNC:932 HGNC:25008 BABAM1 BRISC and BRCA1 A complex member 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ20571|HSPC142|NBA1|MERIT40" "Mediator of Rap80 Interactions and Targeting 40 kD|new component of the BRCA1 A complex" C19orf62 chromosome 19 open reading frame 62 "BRCA1 A complex|BRISC complex" "1328|1375" 2007-05-03 2011-01-31 2011-02-21 2023-01-20 29086 ENSG00000105393 OTTHUMG00000182755 uc002nfu.5 AK000578 NM_014173 "CCDS74310|CCDS46012" Q9NWV8 11042152 MGI:1915501 RGD:1359516 612766 HGNC:25008 "ENST00000598188.6|NM_014173.4" -HGNC:1106 BABAM2 BRISC and BRCA1 A complex member 2 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "BRCC45|BRCC4" BRCA1/BRCA2-containing complex, subunit 4 BRE brain and reproductive organ-expressed (TNFRSF1A modulator) "BRCA1 A complex|BRISC complex|MicroRNA protein coding host genes" "1328|1375|1691" 1999-04-23 2017-03-30 2017-03-30 2023-01-20 9577 ENSG00000158019 OTTHUMG00000097831 uc002rlu.4 AF015767 NM_001261840 "CCDS1764|CCDS1763|CCDS1765" Q9NXR7 "9737713|28333135|27001068" MGI:1333875 RGD:735111 610497 HGNC:1106 "ENST00000379624.6|NM_199191.3" +HGNC:1106 BABAM2 BRISC and BRCA1 A complex member 2 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "BRCC45|BRCC4" BRCA1/BRCA2-containing complex, subunit 4 BRE brain and reproductive organ-expressed (TNFRSF1A modulator) "BRCA1 A complex|BRISC complex|MicroRNA protein coding host genes" "1328|1375|1691" 1999-04-23 2017-03-30 2017-03-30 2023-01-20 9577 ENSG00000158019 OTTHUMG00000097831 uc002rlu.4 AF015767 NM_001261840 "CCDS1764|CCDS1765|CCDS1763" Q9NXR7 "9737713|28333135|27001068" MGI:1333875 RGD:735111 610497 HGNC:1106 "ENST00000379624.6|NM_199191.3" HGNC:44171 BABAM2-AS1 BABAM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.2 02p23.2 BRE-AS1 "BRE antisense RNA 1 (non-protein coding)|BRE antisense RNA 1" Antisense RNAs 1987 2012-06-30 2019-01-04 2019-01-04 2019-01-04 100302650 BC014088 NR_028308 28052243 BRE-AS1 HGNC:44171 -HGNC:933 BACE1 beta-secretase 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 BACE "beta-site APP-cleaving enzyme|beta-site APP-cleaving enzyme 1" Peptidase family A1 1928 1999-10-29 2004-04-02 2016-05-16 2023-01-20 23621 ENSG00000186318 OTTHUMG00000160636 uc001pqz.4 AF190725 NM_001207048 "CCDS44740|CCDS44739|CCDS44741|CCDS91601|CCDS55787|CCDS55786|CCDS8383" P56817 10531052 MGI:1346542 RGD:2191 604252 A01.004 objectId:2330 HGNC:933 "ENST00000313005.11|NM_012104.6" +HGNC:933 BACE1 beta-secretase 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 BACE "beta-site APP-cleaving enzyme|beta-site APP-cleaving enzyme 1" Peptidase family A1 1928 1999-10-29 2004-04-02 2016-05-16 2023-01-20 23621 ENSG00000186318 OTTHUMG00000160636 uc001pqz.4 AF190725 NM_001207048 "CCDS8383|CCDS44739|CCDS44740|CCDS55786|CCDS44741|CCDS55787|CCDS91601" P56817 10531052 MGI:1346542 RGD:2191 604252 A01.004 objectId:2330 HGNC:933 "ENST00000313005.11|NM_012104.6" HGNC:37125 BACE1-AS BACE1 antisense RNA non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 "FJ573250|NCRNA00177|BACE1-AS1" non-protein coding RNA 177 BACE1AS BACE1 antisense RNA (non-protein coding) Antisense RNAs 1987 2009-07-15 2010-11-03 2012-08-15 2018-08-15 100379571 ENSG00000278768 OTTHUMG00000188154 uc058htm.1 NR_037803 "18587408|21785702" MGI:4414956 614263 BACE1AS BACE1-AS HGNC:37125 -HGNC:934 BACE2 beta-secretase 2 protein-coding gene gene with protein product Approved 21q22.2-q22.3 21q22.2-q22.3 "CEAP1|DRAP|ALP56" memapsin 1 AEPLC beta-site APP-cleaving enzyme 2 Peptidase family A1 1928 2000-05-23 2018-05-09 2023-01-20 25825 ENSG00000182240 OTTHUMG00000086742 uc002yyw.5 AF117892 NM_012105 "CCDS13669|CCDS13668|CCDS13670" Q9Y5Z0 "10965118|10830953" MGI:1860440 RGD:1303241 605668 A01.041 objectId:2331 3.4.23.45 HGNC:934 "ENST00000330333.11|NM_012105.5" +HGNC:934 BACE2 beta-secretase 2 protein-coding gene gene with protein product Approved 21q22.2-q22.3 21q22.2-q22.3 "CEAP1|DRAP|ALP56" memapsin 1 AEPLC beta-site APP-cleaving enzyme 2 Peptidase family A1 1928 2000-05-23 2018-05-09 2023-01-20 25825 ENSG00000182240 OTTHUMG00000086742 uc002yyw.5 AF117892 NM_012105 "CCDS13670|CCDS13669|CCDS13668" Q9Y5Z0 "10965118|10830953" MGI:1860440 RGD:1303241 605668 A01.041 objectId:2331 3.4.23.45 HGNC:934 "ENST00000330333.11|NM_012105.5" HGNC:16024 BACE2-IT1 BACE2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 PRED43 "C21orf75|NCRNA00228" "chromosome 21 open reading frame 75|non-protein coding RNA 228|BACE2 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2002-11-26 2011-08-11 2015-02-25 2015-02-25 282569 ENSG00000224388 OTTHUMG00000086745 uc062agy.1 BACE2-IT1 HGNC:935 BACH1 BTB domain and CNC homolog 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "BACH-1|BTBD24" BTB and CNC homology 1, basic leucine zipper transcription factor 1 "Basic leucine zipper proteins|BTB domain containing" "506|861" 1998-05-14 2016-01-28 2023-03-15 571 ENSG00000156273 OTTHUMG00000078878 uc061zlj.1 AF026200 NM_206866 CCDS13585 O14867 "9544839|9479503" MGI:894680 RGD:1306693 602751 HGNC:935 "ENST00000286800.8|NM_001186.4" HGNC:40008 BACH1-AS1 BACH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 BACH1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-28 2012-08-15 2014-11-19 106478962 ENSG00000232118 OTTHUMG00000081874 uc061zln.1 BACH1-AS1 @@ -2182,25 +2182,25 @@ HGNC:40007 BACH1-IT2 BACH1 intronic transcript 2 non-coding RNA RNA, long non-co HGNC:16455 BACH1-IT3 BACH1 intronic transcript 3 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 C21orf8 "chromosome 21 open reading frame 8|BACH1 intronic transcript 3 (non-protein coding)" Intronic transcripts 1989 2001-08-24 2008-09-04 2015-02-25 2015-02-25 54147 ENSG00000234293 OTTHUMG00000078874 uc061zlr.1 BX100223 NR_146594 BACH1-IT3 HGNC:16455 HGNC:14078 BACH2 BTB domain and CNC homolog 2 protein-coding gene gene with protein product Approved 6q15 06q15 BTBD25 BTB and CNC homology 1, basic leucine zipper transcription factor 2 "Basic leucine zipper proteins|BTB domain containing" "506|861" 2001-04-27 2016-01-28 2023-01-20 60468 ENSG00000112182 OTTHUMG00000015216 uc003pnw.4 AL121787 NM_021813 CCDS5026 Q9BYV9 "10949928|12829606" MGI:894679 RGD:1562865 605394 HGNC:14078 "ENST00000257749.9|NM_021813.4" HGNC:14078 HGNC:936 BAD BCL2 associated agonist of cell death protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "BCL2L8|BBC2" BCL2 homology region 3 (BH3) only 1277 1997-10-16 2015-11-24 2023-01-20 572 ENSG00000002330 OTTHUMG00000134302 uc001nzd.4 AF021792 NM_032989 CCDS8065 Q92934 8929532 MGI:1096330 RGD:620103 603167 HGNC:936 "ENST00000309032.8|NM_032989.3" -HGNC:937 BAG1 BAG cochaperone 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "BCL2 associated athanogene|BCL2 associated athanogene 1" BAG cochaperones 1139 1996-06-19 2019-09-27 2023-01-20 573 ENSG00000107262 OTTHUMG00000019766 uc064soo.1 AF022224 NM_004323 "CCDS35004|CCDS55301" Q99933 7834747 MGI:108047 RGD:1305203 601497 HGNC:937 "ENST00000634734.3|NM_004323.6" +HGNC:937 BAG1 BAG cochaperone 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "BCL2 associated athanogene|BCL2 associated athanogene 1" BAG cochaperones 1139 1996-06-19 2019-09-27 2023-01-20 573 ENSG00000107262 OTTHUMG00000019766 uc064soo.1 AF022224 NM_004323 "CCDS55301|CCDS35004" Q99933 7834747 MGI:108047 RGD:1305203 601497 HGNC:937 "ENST00000634734.3|NM_004323.6" HGNC:54932 BAG1P1 BAG1 pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-29 2020-04-29 392442 ENSG00000232370 NG_016482 HGNC:938 BAG2 BAG cochaperone 2 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 BCL2 associated athanogene 2 BAG cochaperones 1139 1999-04-23 2019-09-27 2023-01-20 9532 ENSG00000112208 OTTHUMG00000014919 uc003pdr.4 AF095192 NM_004282 CCDS4961 O95816 9873016 MGI:1891254 RGD:1585173 603882 HGNC:938 "ENST00000370693.5|NM_004282.4" HGNC:939 BAG3 BAG cochaperone 3 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 BAG family molecular chaperone regulator 3 BCL2 associated athanogene 3 BAG cochaperones 1139 1999-04-23 2019-09-27 2023-01-20 9531 ENSG00000151929 OTTHUMG00000019155 uc001lem.4 AF095193 NM_004281 CCDS7615 O95817 "9873016|18094623" MGI:1352493 RGD:1307794 LRG_742|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_742.xml 603883 201494 HGNC:939 "ENST00000369085.8|NM_004281.4" HGNC:939 HGNC:940 BAG4 BAG cochaperone 4 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 SODD silencer of death domains BCL2 associated athanogene 4 BAG cochaperones 1139 1999-04-23 2019-09-27 2023-01-20 9530 ENSG00000156735 OTTHUMG00000164064 uc003xky.3 AF095194 NM_004874 "CCDS6104|CCDS56533" O95429 "9873016|9915703" MGI:1914634 RGD:1560875 603884 HGNC:940 "ENST00000287322.5|NM_004874.4" HGNC:941 BAG5 BAG cochaperone 5 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 BCL2 associated athanogene 5 BAG cochaperones 1139 1999-04-23 2019-09-27 2023-01-20 9529 ENSG00000166170 OTTHUMG00000171763 uc001ynj.2 AF095195 NM_001015048 CCDS9982 Q9UL15 "9873016|15603737" MGI:1917619 RGD:1310847 603885 HGNC:941 "ENST00000299204.6|NM_001015048.3" -HGNC:13919 BAG6 BAG cochaperone 6 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G3|D6S52E|Scythe" BAT3 "HLA-B associated transcript 3|BCL2 associated athanogene 6" "BAG cochaperones|BAG6 complex" "1139|1891" 2001-07-13 2010-12-09 2019-09-27 2023-03-15 7917 ENSG00000204463 OTTHUMG00000031171 uc063yvn.1 M31294 NM_080703 "CCDS56415|CCDS93882|CCDS93881|CCDS4709|CCDS56414" P46379 2156268 MGI:1919439 RGD:71064 142590 HGNC:13919 "ENST00000676615.2|NM_001387994.1" +HGNC:13919 BAG6 BAG cochaperone 6 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G3|D6S52E|Scythe" BAT3 "HLA-B associated transcript 3|BCL2 associated athanogene 6" "BAG cochaperones|BAG6 complex" "1139|1891" 2001-07-13 2010-12-09 2019-09-27 2023-03-15 7917 ENSG00000204463 OTTHUMG00000031171 uc063yvn.1 M31294 NM_080703 "CCDS56415|CCDS56414|CCDS4709|CCDS93881|CCDS93882" P46379 2156268 MGI:1919439 RGD:71064 142590 HGNC:13919 "ENST00000676615.2|NM_001387994.1" HGNC:942 BAGE B melanoma antigen protein-coding gene gene with protein product Approved 21p11.1 not on reference assembly 21p11.1 not on reference assembly "CT2.1|BAGE1" cancer/testis antigen family 2, member 1 BAGE family 1848 1995-03-30 2017-11-23 574 U19180 NM_001187 Q13072 7895173 605167 HGNC:15723 BAGE2 BAGE family member 2, pseudogene pseudogene pseudogene Approved 21p11.2 21p11.2 CT2.2 cancer/testis antigen family 2, member 2 "B melanoma antigen family, member 2|BAGE family member 2" BAGE family 1848 2001-06-01 2021-03-05 2021-03-05 85319 ENSG00000187172 OTTHUMG00000074128 AF218570 NR_169269 Q86Y30 12461691 617776 HGNC:15723 HGNC:15728 BAGE3 BAGE family member 3 protein-coding gene gene with protein product Approved 21p11.2 not on reference assembly 21p11.2 not on reference assembly CT2.3 cancer/testis antigen family 2, member 3 B melanoma antigen family, member 3 BAGE family 1848 2001-06-01 2017-02-24 2017-02-24 85318 AF339514 NM_182481 Q86Y29 12461691 617777 HGNC:15730 BAGE4 BAGE family member 4 protein-coding gene gene with protein product Approved 21p11.1 not on reference assembly 21p11.1 not on reference assembly CT2.4 cancer/testis antigen family 2, member 4 MLL3P "MLL3 pseudogene|B melanoma antigen family, member 4" BAGE family 1848 2001-06-01 2017-02-24 2017-02-24 85317 AF339515 NM_181704 Q86Y28 12676563 HGNC:15732 BAGE5 BAGE family member 5 protein-coding gene gene with protein product Approved 13cen, GRCh38 novel patch 13cen, GRCh38 novel patch CT2.5 cancer/testis antigen family 2, member 5 B melanoma antigen family, member 5 BAGE family 1848 2001-06-01 2017-02-24 2017-02-24 85316 uc062bdr.1 AF339516 NM_182484 Q86Y27 "12461691|12676563" -HGNC:29279 BAHCC1 BAH domain and coiled-coil containing 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1447|BAHD2" 2005-12-15 2023-01-20 57597 ENSG00000266074 OTTHUMG00000184171 uc002kae.3 NM_001291324 "CCDS74173|CCDS92415" Q9P281 10819331 MGI:2679272 RGD:1306500 617646 HGNC:29279 "ENST00000675386.2|NM_001377448.1" -HGNC:29153 BAHD1 bromo adjacent homology domain containing 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 KIAA0945 2004-01-14 2023-01-20 22893 ENSG00000140320 OTTHUMG00000129982 uc001zlv.3 AL833923 NM_014952 "CCDS91980|CCDS10058|CCDS73705" Q8TBE0 10231032 MGI:2139371 RGD:1563127 613880 HGNC:29153 "ENST00000416165.6|NM_014952.5" -HGNC:947 BAIAP2 BAR/IMD domain containing adaptor protein 2 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "BAP2|IRSp53|WAML" "insulin receptor substrate of 53 kDa|WASP and MIM like" BAI1 associated protein 2 I-BAR domain containing 1287 1999-02-26 2019-07-04 2023-01-20 10458 ENSG00000175866 OTTHUMG00000177698 uc002jzg.3 AB015019 NM_001144888 "CCDS11776|CCDS11775|CCDS92414|CCDS11777|CCDS45806" Q9UQB8 10343108 MGI:2137336 RGD:619814 605475 HGNC:947 "ENST00000428708.7|NM_001144888.2" +HGNC:29279 BAHCC1 BAH domain and coiled-coil containing 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1447|BAHD2" 2005-12-15 2023-01-20 57597 ENSG00000266074 OTTHUMG00000184171 uc002kae.3 NM_001291324 "CCDS92415|CCDS74173" Q9P281 10819331 MGI:2679272 RGD:1306500 617646 HGNC:29279 "ENST00000675386.2|NM_001377448.1" +HGNC:29153 BAHD1 bromo adjacent homology domain containing 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 KIAA0945 2004-01-14 2023-01-20 22893 ENSG00000140320 OTTHUMG00000129982 uc001zlv.3 AL833923 NM_014952 "CCDS91980|CCDS73705|CCDS10058" Q8TBE0 10231032 MGI:2139371 RGD:1563127 613880 HGNC:29153 "ENST00000416165.6|NM_014952.5" +HGNC:947 BAIAP2 BAR/IMD domain containing adaptor protein 2 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "BAP2|IRSp53|WAML" "insulin receptor substrate of 53 kDa|WASP and MIM like" BAI1 associated protein 2 I-BAR domain containing 1287 1999-02-26 2019-07-04 2023-01-20 10458 ENSG00000175866 OTTHUMG00000177698 uc002jzg.3 AB015019 NM_001144888 "CCDS11775|CCDS92414|CCDS11776|CCDS45806|CCDS11777" Q9UQB8 10343108 MGI:2137336 RGD:619814 605475 HGNC:947 "ENST00000428708.7|NM_001144888.2" HGNC:44342 BAIAP2-DT BAIAP2 divergent transcript non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 lnc-BAIAP2 BAIAP2-AS1 "BAIAP2 antisense RNA 1 (non-protein coding)|BAIAP2 antisense RNA 1|BAIAP2 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-08-14 2018-03-21 2018-03-21 2019-06-06 440465 ENSG00000226137 OTTHUMG00000177697 uc060lfw.1 "AK027350|AK056555|AK075238|AK096609" NR_026857 30918008 BAIAP2-AS1 HGNC:44342 HGNC:21649 BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 protein-coding gene gene with protein product Approved 7q21.3-q22.1 07q21.3-q22.1 IRTKS insulin receptor tyrosine kinase substrate BAI1 associated protein 2 like 1 I-BAR domain containing 1287 2005-02-09 2019-07-04 2023-01-20 55971 ENSG00000006453 OTTHUMG00000165117 uc003upj.4 AF119666 NM_018842 CCDS34687 Q9UHR4 MGI:1914148 RGD:1308452 611877 HGNC:21649 "ENST00000005260.9|NM_018842.5" HGNC:26203 BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "FLJ22582|pinkbar" planar intestinal- and kidney-specific BAR domain protein BAI1 associated protein 2 like 2 I-BAR domain containing 1287 2005-02-09 2019-07-04 2023-01-20 80115 ENSG00000128298 OTTHUMG00000151197 uc003auw.4 BC015619 NM_025045 CCDS43018 Q6UXY1 21743456 MGI:2652819 RGD:1595091 617536 HGNC:26203 "ENST00000381669.8|NM_025045.6" -HGNC:948 BAIAP3 BAI1 associated protein 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "BAP3|KIAA0734" BAI1-associated protein 3 "C2 domain containing|UNC13 homologs" "823|836" 1999-02-26 2016-02-02 2023-01-20 8938 ENSG00000007516 OTTHUMG00000047833 uc002clk.3 AB017111 NM_001199096 "CCDS66894|CCDS58402|CCDS10434|CCDS58403|CCDS55979|CCDS55978" O94812 9790924 MGI:2685783 RGD:10059729 604009 HGNC:948 "ENST00000426824.8|NM_001199097.2" +HGNC:948 BAIAP3 BAI1 associated protein 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "BAP3|KIAA0734" BAI1-associated protein 3 "C2 domain containing|UNC13 homologs" "823|836" 1999-02-26 2016-02-02 2023-01-20 8938 ENSG00000007516 OTTHUMG00000047833 uc002clk.3 AB017111 NM_001199096 "CCDS10434|CCDS66894|CCDS58403|CCDS58402|CCDS55979|CCDS55978" O94812 9790924 MGI:2685783 RGD:10059729 604009 HGNC:948 "ENST00000426824.8|NM_001199097.2" HGNC:949 BAK1 BCL2 antagonist/killer 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "BCL2L7|BAK" CDN1 BCL2-antagonist/killer 1 BCL2 family 1057 1997-10-09 2016-02-24 2023-01-20 578 ENSG00000030110 OTTHUMG00000014530 uc003oes.4 U23765 NM_001188 CCDS4781 Q16611 "7715730|7715731" MGI:1097161 RGD:621635 600516 HGNC:949 "ENST00000374467.4|NM_001188.4" HGNC:996 BAK1P1 BCL2 antagonist/killer 1 pseudogene 1 pseudogene pseudogene Approved 20q11.21 20q11.21 BAK2 BCL2L7P1 "BCL2-like 7 pseudogene 1|BCL2-antagonist/killer 1 pseudogene 1" 1997-10-09 2010-01-05 2016-02-24 2016-02-24 600 ENSG00000175730 OTTHUMG00000158163 U16812 NG_000850 7715731 HGNC:996 HGNC:997 BAK1P2 BCL2 antagonist/killer 1 pseudogene 2 pseudogene pseudogene Approved 11q24.3 11q24.3 "BAK3|BAK3P" BCL2L7P2 "BCL2-like 7 pseudogene 2|BCL2-antagonist/killer 1 pseudogene 2" 1997-10-09 2010-01-05 2016-02-24 2016-02-24 601 ENSG00000236616 OTTHUMG00000165659 U16813 NG_005599 7715731 PGOHUM00000242541 HGNC:997 @@ -2213,11 +2213,11 @@ HGNC:23426 BANF1P2 BANF1 pseudogene 2 pseudogene pseudogene Approved 10q26.3 10q HGNC:43883 BANF1P3 BANF1 pseudogene 3 pseudogene pseudogene Approved 2q37.1 02q37.1 barrier to autointegration factor 1 pseudogene 3 2012-04-19 2019-10-03 2019-10-03 100505506 ENSG00000237758 OTTHUMG00000153830 NG_029257 PGOHUM00000240547 HGNC:43883 HGNC:43884 BANF1P4 BANF1 pseudogene 4 pseudogene pseudogene Approved 1q25.1 01q25.1 barrier to autointegration factor 1 pseudogene 4 2012-04-19 2019-10-03 2019-10-03 100653423 ENSG00000223828 OTTHUMG00000034935 NG_029684 PGOHUM00000244343 HGNC:43884 HGNC:43885 BANF1P5 BANF1 pseudogene 5 pseudogene pseudogene Approved 7q22.3 07q22.3 barrier to autointegration factor 1 pseudogene 5 2012-04-19 2019-10-03 2020-04-20 101290503 ENSG00000225935 OTTHUMG00000154778 NG_033173 PGOHUM00000232957 HGNC:43885 -HGNC:16172 BANF2 BANF family member 2 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "dJ803K15.1|BAF-L|BAFL|BAF2" C20orf179 "chromosome 20 open reading frame 179|barrier to autointegration factor 2" 2001-07-17 2007-12-17 2019-10-03 2023-01-20 140836 ENSG00000125888 OTTHUMG00000031949 uc002wqa.3 BC054871 NM_178477 "CCDS54449|CCDS13129" Q9H503 16337940 MGI:2684961 RGD:1307909 HGNC:16172 "ENST00000246090.6|NM_178477.5" +HGNC:16172 BANF2 BANF family member 2 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "dJ803K15.1|BAF-L|BAFL|BAF2" C20orf179 "chromosome 20 open reading frame 179|barrier to autointegration factor 2" 2001-07-17 2007-12-17 2019-10-03 2023-01-20 140836 ENSG00000125888 OTTHUMG00000031949 uc002wqa.3 BC054871 NM_178477 "CCDS13129|CCDS54449" Q9H503 16337940 MGI:2684961 RGD:1307909 HGNC:16172 "ENST00000246090.6|NM_178477.5" HGNC:18233 BANK1 B cell scaffold protein with ankyrin repeats 1 protein-coding gene gene with protein product Approved 4q24 04q24 "BANK|FLJ20706" Ankyrin repeat domain containing 403 2003-10-24 2017-12-06 2023-01-20 55024 ENSG00000153064 OTTHUMG00000160958 uc003hvy.5 AB063170 NM_017935 "CCDS34038|CCDS47115|CCDS47116" Q8NDB2 "11782428|21208380|21480188" MGI:2442120 RGD:1564639 610292 353589 HGNC:18233 "ENST00000322953.9|NM_017935.5" -HGNC:13450 BANP BTG3 associated nuclear protein protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "SMARBP1|SMAR1|FLJ20538|DKFZp761H172|FLJ10177|BEND1" BEN domain containing 1 BEN domain containing 422 2004-06-07 2023-01-20 54971 ENSG00000172530 OTTHUMG00000137678 uc002fkq.4 AK094158 NM_017869 "CCDS54052|CCDS10966|CCDS54053|CCDS92203|CCDS54054|CCDS54055|CCDS42215|CCDS92204" Q8N9N5 "10940556|10950932" MGI:1889023 RGD:1307464 611564 HGNC:13450 "ENST00000682872.1|NM_001386991.1" -HGNC:950 BAP1 BRCA1 associated protein 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "hucep-6|KIAA0272|UCHL2" ubiquitin carboxy-terminal hydrolase BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) Ubiquitin C-terminal hydrolases 998 1998-09-17 2015-11-13 2023-01-20 8314 ENSG00000163930 OTTHUMG00000158392 uc003ddx.5 AF045581 NM_001410772 "CCDS93284|CCDS2853" Q92560 9528852 MGI:1206586 RGD:1311938 LRG_529|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_529.xml BAP1 603089 289543 C12.004 objectId:2332 HGNC:950 "ENST00000460680.6|NM_004656.4" HGNC:950 -HGNC:952 BARD1 BRCA1 associated RING domain 1 protein-coding gene gene with protein product Approved 2q35 02q35 "Ring finger proteins|Ankyrin repeat domain containing|BRCA1 B complex" "58|403|1335" 1998-08-05 2023-01-20 580 ENSG00000138376 OTTHUMG00000133016 uc021vwi.2 NM_000465 "CCDS74645|CCDS2397|CCDS74648|CCDS74647|CCDS74646" Q99728 "8944023|9425226|15159397" MGI:1328361 RGD:621072 LRG_297|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_297.xml BARD1 601593 201093 HGNC:952 "ENST00000260947.9|NM_000465.4" HGNC:952 +HGNC:13450 BANP BTG3 associated nuclear protein protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "SMARBP1|SMAR1|FLJ20538|DKFZp761H172|FLJ10177|BEND1" BEN domain containing 1 BEN domain containing 422 2004-06-07 2023-01-20 54971 ENSG00000172530 OTTHUMG00000137678 uc002fkq.4 AK094158 NM_017869 "CCDS54053|CCDS42215|CCDS54055|CCDS92204|CCDS54054|CCDS10966|CCDS92203|CCDS54052" Q8N9N5 "10940556|10950932" MGI:1889023 RGD:1307464 611564 HGNC:13450 "ENST00000682872.1|NM_001386991.1" +HGNC:950 BAP1 BRCA1 associated protein 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "hucep-6|KIAA0272|UCHL2" ubiquitin carboxy-terminal hydrolase BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) Ubiquitin C-terminal hydrolases 998 1998-09-17 2015-11-13 2023-01-20 8314 ENSG00000163930 OTTHUMG00000158392 uc003ddx.5 AF045581 NM_001410772 "CCDS2853|CCDS93284" Q92560 9528852 MGI:1206586 RGD:1311938 LRG_529|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_529.xml BAP1 603089 289543 C12.004 objectId:2332 HGNC:950 "ENST00000460680.6|NM_004656.4" HGNC:950 +HGNC:952 BARD1 BRCA1 associated RING domain 1 protein-coding gene gene with protein product Approved 2q35 02q35 "Ring finger proteins|Ankyrin repeat domain containing|BRCA1 B complex" "58|403|1335" 1998-08-05 2023-01-20 580 ENSG00000138376 OTTHUMG00000133016 uc021vwi.2 NM_000465 "CCDS74646|CCDS2397|CCDS74648|CCDS74647|CCDS74645" Q99728 "8944023|9425226|15159397" MGI:1328361 RGD:621072 LRG_297|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_297.xml BARD1 601593 201093 HGNC:952 "ENST00000260947.9|NM_000465.4" HGNC:952 HGNC:953 BARHL1 BarH like homeobox 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "BarH (Drosophila)-like 1|BarH-like homeobox 1" NKL subclass homeoboxes and pseudogenes 519 2000-05-19 2016-01-19 2023-01-20 56751 ENSG00000125492 OTTHUMG00000020839 uc004cbp.2 AJ237816 NM_020064 CCDS6950 Q9BZE3 MGI:1859288 RGD:620648 605211 8419 HGNC:953 "ENST00000263610.7|NM_020064.4" HGNC:954 BARHL2 BarH like homeobox 2 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "BarH (Drosophila)-like 2|BarH-like homeobox 2" NKL subclass homeoboxes and pseudogenes 519 2000-05-19 2016-01-19 2023-01-20 343472 ENSG00000143032 OTTHUMG00000010020 uc001dns.4 AJ251753 NM_020063 CCDS730 Q9NY43 14998930 MGI:1859314 RGD:620726 605212 8409 HGNC:954 "ENST00000370445.5|NM_020063.2" HGNC:955 BARX1 BARX homeobox 1 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 BarH-like homeobox 1 NKL subclass homeoboxes and pseudogenes 519 2000-07-12 2007-07-09 2023-01-20 56033 ENSG00000131668 OTTHUMG00000020255 uc010mrh.4 NM_021570 CCDS35070 Q9HBU1 MGI:103124 RGD:1310884 603260 8420 HGNC:955 "ENST00000253968.11|NM_021570.4" @@ -2229,15 +2229,15 @@ HGNC:39418 BASP1P1 BASP1 pseudogene 1 pseudogene pseudogene Approved 13q12.12 13 HGNC:958 BATF basic leucine zipper ATF-like transcription factor protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "B-ATF|SFA-2|BATF1" "activating transcription factor B|SF-HT-activated gene 2" basic leucine zipper transcription factor, ATF-like Basic leucine zipper proteins 506 2000-05-15 2016-06-28 2023-01-20 10538 ENSG00000156127 OTTHUMG00000171486 uc001xrr.4 AF016898 NM_006399 CCDS9843 Q16520 "8570175|8630063" MGI:1859147 RGD:1304923 612476 HGNC:958 "ENST00000286639.8|NM_006399.5" HGNC:25163 BATF2 basic leucine zipper ATF-like transcription factor 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 MGC20410 basic leucine zipper transcription factor, ATF-like 2 Basic leucine zipper proteins 506 2006-02-11 2016-06-28 2023-01-20 116071 ENSG00000168062 OTTHUMG00000165633 uc001ocf.2 AK092453 NM_138456 "CCDS73317|CCDS8087|CCDS76429" Q8N1L9 MGI:1921731 RGD:1311481 614983 HGNC:25163 "ENST00000301887.9|NM_138456.4" HGNC:28915 BATF3 basic leucine zipper ATF-like transcription factor 3 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "JUNDM1|SNFT|JDP1" Jun dimerization protein 1 basic leucine zipper transcription factor, ATF-like 3 Basic leucine zipper proteins 506 2007-10-17 2016-06-28 2023-01-20 55509 ENSG00000123685 OTTHUMG00000036807 uc001hjl.3 AF255346 NM_018664 CCDS1508 Q9NR55 "10878360|12087103" MGI:1925491 RGD:620501 612470 HGNC:28915 "ENST00000243440.2|NM_018664.3" -HGNC:959 BAX BCL2 associated X, apoptosis regulator protein-coding gene gene with protein product Approved 19q13.33 19q13.33 BCL2L4 "BCL2-associated X protein|BCL2 associated X protein" BCL2 family 1057 1994-11-08 2016-06-17 2023-03-15 581 ENSG00000087088 OTTHUMG00000160476 uc002plk.4 NM_138763 "CCDS12745|CCDS12742|CCDS12743|CCDS77327|CCDS12744" Q07812 8358790 MGI:99702 RGD:2192 BAX 600040 HGNC:959 "ENST00000345358.12|NM_138761.4" HGNC:959 -HGNC:960 BAZ1A bromodomain adjacent to zinc finger domain 1A protein-coding gene gene with protein product Approved 14q13.1-q13.2 14q13.1-q13.2 "hACF1|ACF1|WALp1|WCRF180" "PHD finger proteins|Bromodomain containing|Chromatin accessibility complex" "88|1232|1633" 1999-09-06 2015-11-13 2023-01-20 11177 ENSG00000198604 OTTHUMG00000140216 uc001wsk.4 AB032252 NM_013448 "CCDS9651|CCDS41943" Q9NRL2 10662543 MGI:1309478 RGD:1306199 605680 objectId:2773 HGNC:960 "ENST00000360310.6|NM_013448.3" HGNC:960 +HGNC:959 BAX BCL2 associated X, apoptosis regulator protein-coding gene gene with protein product Approved 19q13.33 19q13.33 BCL2L4 "BCL2-associated X protein|BCL2 associated X protein" BCL2 family 1057 1994-11-08 2016-06-17 2023-03-15 581 ENSG00000087088 OTTHUMG00000160476 uc002plk.4 NM_138763 "CCDS12745|CCDS12744|CCDS12742|CCDS12743|CCDS77327" Q07812 8358790 MGI:99702 RGD:2192 BAX 600040 HGNC:959 "ENST00000345358.12|NM_138761.4" HGNC:959 +HGNC:960 BAZ1A bromodomain adjacent to zinc finger domain 1A protein-coding gene gene with protein product Approved 14q13.1-q13.2 14q13.1-q13.2 "hACF1|ACF1|WALp1|WCRF180" "PHD finger proteins|Bromodomain containing|Chromatin accessibility complex" "88|1232|1633" 1999-09-06 2015-11-13 2023-01-20 11177 ENSG00000198604 OTTHUMG00000140216 uc001wsk.4 AB032252 NM_013448 "CCDS41943|CCDS9651" Q9NRL2 10662543 MGI:1309478 RGD:1306199 605680 objectId:2773 HGNC:960 "ENST00000360310.6|NM_013448.3" HGNC:960 HGNC:55440 BAZ1A-AS1 BAZ1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q13.2 14q13.2 Antisense RNAs 1987 2021-01-14 2021-01-14 112268124 ENSG00000258738 NR_160776 HGNC:961 BAZ1B bromodomain adjacent to zinc finger domain 1B protein-coding gene gene with protein product Approved 7q11.23 07q11.23 WSTF "Williams-Beuren syndrome chromosome region 9|Williams-Beuren syndrome chromosome region 10|transcription factor WSTF" "WBSCR9|WBSCR10" "PHD finger proteins|Bromodomain containing|B-WICH chromatin-remodelling complex subunits" "88|1232|1787" 1999-01-21 2015-11-13 2023-01-20 9031 ENSG00000009954 OTTHUMG00000023847 uc003tyc.4 AF084479 NM_032408 CCDS5549 Q9UIG0 "9858827|9828126" MGI:1353499 RGD:1597089 605681 118970 objectId:2774 HGNC:961 "ENST00000339594.9|NM_032408.4" HGNC:961 -HGNC:962 BAZ2A bromodomain adjacent to zinc finger domain 2A protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "KIAA0314|TIP5|WALp3" TTF-I interacting peptide 5 "PHD finger proteins|Methyl-CpG binding domain containing|Bromodomain containing" "88|1025|1232" 1999-09-06 2015-11-13 2023-01-20 11176 ENSG00000076108 OTTHUMG00000170332 uc001slq.2 AB032254 NM_013449 "CCDS73483|CCDS44924" Q9UIF9 "10662543|11532953" MGI:2151152 RGD:1305037 605682 objectId:2721 HGNC:962 "ENST00000549884.6|NM_001300905.2" +HGNC:962 BAZ2A bromodomain adjacent to zinc finger domain 2A protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "KIAA0314|TIP5|WALp3" TTF-I interacting peptide 5 "PHD finger proteins|Methyl-CpG binding domain containing|Bromodomain containing" "88|1025|1232" 1999-09-06 2015-11-13 2023-01-20 11176 ENSG00000076108 OTTHUMG00000170332 uc001slq.2 AB032254 NM_013449 "CCDS44924|CCDS73483" Q9UIF9 "10662543|11532953" MGI:2151152 RGD:1305037 605682 objectId:2721 HGNC:962 "ENST00000549884.6|NM_001300905.2" HGNC:963 BAZ2B bromodomain adjacent to zinc finger domain 2B protein-coding gene gene with protein product Approved 2q24.2 02q24.2 WALp4 "PHD finger proteins|Methyl-CpG binding domain containing|Bromodomain containing" "88|1025|1232" 1999-09-06 2015-11-13 2023-01-20 29994 ENSG00000123636 OTTHUMG00000132027 uc002uao.4 AB032255 NM_001289975 "CCDS74594|CCDS2209" Q9UIF8 10662543 MGI:2442782 RGD:1309801 605683 objectId:2722 HGNC:963 "ENST00000392783.7|NM_013450.4" HGNC:963 HGNC:55862 BAZ2B-AS1 BAZ2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Antisense RNAs 1987 2021-09-03 2021-09-03 2021-09-03 643072 ENSG00000224152 NR_110587 -HGNC:17868 BBC3 BCL2 binding component 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "JFY1|PUMA" p53-upregulated modulator of apoptosis "BCL2 homology region 3 (BH3) only|MicroRNA protein coding host genes" "1277|1691" 2002-07-22 2023-01-20 27113 ENSG00000105327 OTTHUMG00000183489 uc002pgf.5 AF332558 NM_014417 "CCDS46128|CCDS46130|CCDS46129|CCDS12697" "Q96PG8|Q9BXH1" "11463392|11572983" MGI:2181667 RGD:631434 605854 HGNC:17868 "ENST00000439096.3|NM_014417.5" -HGNC:28093 BBIP1 BBSome interacting protein 1 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "bA348N5.3|BBIP10|BBS18" NCRNA00081 non-protein coding RNA 81 BBSome 1122 2008-09-02 2010-12-09 2010-12-09 2023-01-20 92482 ENSG00000214413 OTTHUMG00000019046 uc010qrf.2 AK025724 NM_001195304 "CCDS55728|CCDS55726|CCDS58094|CCDS55727" A8MTZ0 19081074 MGI:1913610 RGD:6498801 613605 390746 HGNC:28093 "ENST00000448814.7|NM_001195305.3" HGNC:28093 +HGNC:17868 BBC3 BCL2 binding component 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "JFY1|PUMA" p53-upregulated modulator of apoptosis "BCL2 homology region 3 (BH3) only|MicroRNA protein coding host genes" "1277|1691" 2002-07-22 2023-01-20 27113 ENSG00000105327 OTTHUMG00000183489 uc002pgf.5 AF332558 NM_014417 "CCDS46129|CCDS12697|CCDS46130|CCDS46128" "Q96PG8|Q9BXH1" "11463392|11572983" MGI:2181667 RGD:631434 605854 HGNC:17868 "ENST00000439096.3|NM_014417.5" +HGNC:28093 BBIP1 BBSome interacting protein 1 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "bA348N5.3|BBIP10|BBS18" NCRNA00081 non-protein coding RNA 81 BBSome 1122 2008-09-02 2010-12-09 2010-12-09 2023-01-20 92482 ENSG00000214413 OTTHUMG00000019046 uc010qrf.2 AK025724 NM_001195304 "CCDS58094|CCDS55726|CCDS55727|CCDS55728" A8MTZ0 19081074 MGI:1913610 RGD:6498801 613605 390746 HGNC:28093 "ENST00000448814.7|NM_001195305.3" HGNC:28093 HGNC:52781 BBIP1P1 BBSome interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 2q11.2 02q11.2 2016-12-09 2016-12-09 105373509 ENSG00000271532 OTTHUMG00000184265 PGOHUM00000298593 HGNC:52781 HGNC:17823 BBLN bublin coiled coil protein protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "EST00098|FLJ12823|MGC4639" C9orf16 chromosome 9 open reading frame 16 2002-01-29 2020-12-11 2020-12-11 2023-01-20 79095 ENSG00000171159 OTTHUMG00000020731 uc004btp.1 AK022885 NM_024112 CCDS6893 Q9BUW7 10369878 MGI:1920987 RGD:1561113 HGNC:17823 "ENST00000372994.2|NM_024112.4" HGNC:19855 BBOF1 basal body orientation factor 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FBB10 "C14orf45|CCDC176" "chromosome 14 open reading frame 45|coiled-coil domain containing 176" 2003-01-13 2015-10-08 2015-10-08 2023-01-20 80127 ENSG00000119636 OTTHUMG00000171202 BI457605 NM_025057 CCDS32119 Q8ND07 23900544 MGI:1920123 RGD:1560978 HGNC:19855 "ENST00000394009.5|NM_025057.3" @@ -2245,80 +2245,80 @@ HGNC:964 BBOX1 gamma-butyrobetaine hydroxylase 1 protein-coding gene gene with p HGNC:50700 BBOX1-AS1 BBOX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p14.2-p14.1 11p14.2-p14.1 Antisense RNAs 1987 2014-06-09 2020-01-30 103695435 ENSG00000254560 OTTHUMG00000166122 DA865512 NR_125766 31984680 BBOX1-AS1 HGNC:50700 HGNC:966 BBS1 Bardet-Biedl syndrome 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ23590 BBSome 1122 1994-01-28 2023-01-20 582 ENSG00000174483 OTTHUMG00000167110 uc001oij.2 AF503941 NM_024649 CCDS8142 Q8NFJ9 "9039982|12567324" MGI:1277215 RGD:1307581 Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2)|http://www.retina-international.org/files/sci-news/bbs1mut.htm 209901 118975 HGNC:966 "ENST00000318312.12|NM_024649.5" HGNC:966 HGNC:967 BBS2 Bardet-Biedl syndrome 2 protein-coding gene gene with protein product Approved 16q13 16q13 BBS BBSome 1122 1993-10-26 2023-01-20 583 ENSG00000125124 OTTHUMG00000176943 uc002ejd.3 AF342736 NM_031885 CCDS32451 Q9BXC9 11285252 MGI:2135267 RGD:71091 Mutations of the Bardet-Biedl Syndrome Type 2 Gene|http://www.retina-international.org/files/sci-news/bbs2mut.htm 606151 118982 HGNC:967 "ENST00000245157.11|NM_031885.5" HGNC:967 -HGNC:969 BBS4 Bardet-Biedl syndrome 4 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "Tetratricopeptide repeat domain containing|BBSome" "769|1122" 1995-07-11 2023-01-20 585 ENSG00000140463 OTTHUMG00000133510 uc002avb.4 AF090947 NM_033028 "CCDS10246|CCDS58377" Q96RK4 "7711739|11381270|30665891" MGI:2143311 RGD:1309134 Mutations of the Bardet-Biedl Syndrome Type 4 Gene|http://www.retina-international.org/files/sci-news/bbs4mut.htm 600374 118985 HGNC:969 "ENST00000268057.9|NM_033028.5" HGNC:969 +HGNC:969 BBS4 Bardet-Biedl syndrome 4 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "Tetratricopeptide repeat domain containing|BBSome" "769|1122" 1995-07-11 2023-01-20 585 ENSG00000140463 OTTHUMG00000133510 uc002avb.4 AF090947 NM_033028 "CCDS58377|CCDS10246" Q96RK4 "7711739|11381270|30665891" MGI:2143311 RGD:1309134 Mutations of the Bardet-Biedl Syndrome Type 4 Gene|http://www.retina-international.org/files/sci-news/bbs4mut.htm 600374 118985 HGNC:969 "ENST00000268057.9|NM_033028.5" HGNC:969 HGNC:970 BBS5 Bardet-Biedl syndrome 5 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 DKFZp762I194 BBSome 1122 1998-03-25 2023-01-20 129880 ENSG00000163093 OTTHUMG00000132207 uc002uet.4 AY604003 NM_152384 CCDS2233 Q8N3I7 "9888993|10053027" MGI:1919819 RGD:1310718 603650 118987 HGNC:970 "ENST00000295240.8|NM_152384.3" HGNC:970 HGNC:18758 BBS7 Bardet-Biedl syndrome 7 protein-coding gene gene with protein product Approved 4q27 04q27 "FLJ10715|BBS2L1" BBSome 1122 2003-02-05 2023-01-20 55212 ENSG00000138686 OTTHUMG00000133076 uc003ied.4 AF521644 NM_018190 "CCDS54799|CCDS3724" Q8IWZ6 MGI:1918742 RGD:1309264 Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1)|http://www.retina-international.org/files/sci-news/bbs7mut.htm 607590 118990 HGNC:18758 "ENST00000264499.9|NM_176824.3" HGNC:18758 HGNC:55360 BBS7-DT BBS7 divergent transcript non-coding RNA RNA, long non-coding Approved 4q27 04q27 Divergent transcripts 1990 2020-11-11 2020-11-11 119545622 ENSG00000261501 -HGNC:30000 BBS9 Bardet-Biedl syndrome 9 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "B1|PTHB1" parathyroid hormone responsive B1 gene BBSome 1122 2007-01-18 2023-01-20 27241 ENSG00000122507 OTTHUMG00000128659 uc003tdp.1 NM_001033604 "CCDS34618|CCDS5441|CCDS94082|CCDS47572|CCDS94080|CCDS43566|CCDS94081|CCDS94079" Q3SYG4 "16380913|10221542" MGI:2442833 RGD:1308472 607968 118994 HGNC:30000 "ENST00000242067.11|NM_198428.3" HGNC:30000 +HGNC:30000 BBS9 Bardet-Biedl syndrome 9 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "B1|PTHB1" parathyroid hormone responsive B1 gene BBSome 1122 2007-01-18 2023-01-20 27241 ENSG00000122507 OTTHUMG00000128659 uc003tdp.1 NM_001033604 "CCDS34618|CCDS94081|CCDS94082|CCDS94080|CCDS47572|CCDS43566|CCDS5441|CCDS94079" Q3SYG4 "16380913|10221542" MGI:2442833 RGD:1308472 607968 118994 HGNC:30000 "ENST00000242067.11|NM_198428.3" HGNC:30000 HGNC:26291 BBS10 Bardet-Biedl syndrome 10 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 FLJ23560 C12orf58 chromosome 12 open reading frame 58 Chaperonins 587 2006-02-09 2006-04-28 2006-04-28 2023-01-20 79738 ENSG00000179941 OTTHUMG00000147352 uc001syd.2 BC026355 NM_024685 CCDS9014 Q8TAM1 16582908 MGI:1919019 RGD:1560748 LRG_1255|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1255.xml 610148 118978 HGNC:26291 "ENST00000650064.2|NM_024685.4" HGNC:26291 HGNC:26648 BBS12 Bardet-Biedl syndrome 12 protein-coding gene gene with protein product Approved 4q27 04q27 "FLJ35630|FLJ41559" C4orf24 chromosome 4 open reading frame 24 Chaperonins 587 2006-05-22 2006-12-13 2006-12-13 2023-01-20 166379 ENSG00000181004 OTTHUMG00000133070 uc003ieu.3 AK123553 NM_152618 CCDS3728 Q6ZW61 17160889 MGI:2686651 RGD:1561608 610683 137646 HGNC:26648 "ENST00000314218.8|NM_152618.3" HGNC:26648 -HGNC:14422 BBX BBX high mobility group box domain containing protein-coding gene gene with protein product Approved 3q13.12 03q13.12 "MDS001|HSPC339|HBP2" x 001 protein "bobby sox homolog (Drosophila)|BBX, HMG-box containing" 2002-01-08 2019-01-31 2023-01-20 56987 ENSG00000114439 OTTHUMG00000150360 uc003dwk.6 AF168718 NM_020235 "CCDS46881|CCDS63712|CCDS2950" Q8WY36 11680820 MGI:1917758 RGD:1309769 HGNC:14422 "ENST00000325805.13|NM_001142568.3" +HGNC:14422 BBX BBX high mobility group box domain containing protein-coding gene gene with protein product Approved 3q13.12 03q13.12 "MDS001|HSPC339|HBP2" x 001 protein "bobby sox homolog (Drosophila)|BBX, HMG-box containing" 2002-01-08 2019-01-31 2023-01-20 56987 ENSG00000114439 OTTHUMG00000150360 uc003dwk.6 AF168718 NM_020235 "CCDS46881|CCDS2950|CCDS63712" Q8WY36 11680820 MGI:1917758 RGD:1309769 HGNC:14422 "ENST00000325805.13|NM_001142568.3" HGNC:6722 BCAM basal cell adhesion molecule (Lutheran blood group) protein-coding gene gene with protein product Approved 19q13.32 19q13.32 CD239 LU "Lutheran blood group (Auberger b antigen included)|basal cell adhesion molecule (Lu and Au blood groups)" "Blood group antigens|CD molecules|C2-set domain containing|Ig-like cell adhesion molecule family" "454|471|592|1410" 2001-06-22 2006-01-12 2006-02-23 2023-01-20 4059 ENSG00000187244 OTTHUMG00000180838 uc002ozu.5 X83425 NM_005581 "CCDS42575|CCDS12644" P50895 MGI:1929940 RGD:68378 LRG_798|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_798.xml 612773 CD239 HGNC:6722 "ENST00000270233.12|NM_005581.5" HGNC:23059 BCAN brevican protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "BEHAB|MGC13038|CSPG7" "chondroitin sulfate proteoglycan 7|brevican proteoglycan" "Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing" "574|590|1179|1298" 2004-03-01 2023-01-20 63827 ENSG00000132692 OTTHUMG00000033322 uc001fpp.4 BC027971 NM_021948 "CCDS1150|CCDS1149" Q96GW7 "11054543|11873941" MGI:1096385 RGD:2194 600347 HGNC:23059 "ENST00000329117.10|NM_021948.5" HGNC:55233 BCAN-AS1 BCAN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.1 01q23.1 RP11-284F21.9 Antisense RNAs 1987 2020-09-16 2020-09-25 105371453 ENSG00000272068 32936290 HGNC:56267 BCAN-AS2 BCAN antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q23.1 01q23.1 ENST869 Antisense RNAs 1987 2022-07-19 2022-07-19 126568844 ENSG00000229953 NR_182279 35444938 -HGNC:24131 BCAP29 B cell receptor associated protein 29 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "BAP29|DKFZp686M2086" B-cell receptor-associated protein 29 2003-12-22 2017-12-06 2023-03-15 55973 ENSG00000075790 OTTHUMG00000154770 uc003vej.3 NM_018844 "CCDS34730|CCDS34731" Q9UHQ4 "8070407|12886015" MGI:101917 RGD:1359431 619612 HGNC:24131 "ENST00000005259.9|NM_018844.4" -HGNC:16695 BCAP31 B cell receptor associated protein 31 protein-coding gene gene with protein product Approved Xq28 Xq28 "DXS1357E|BAP31|6C6-Ag|CDM" 2003-12-22 2017-12-06 2023-01-20 10134 ENSG00000185825 OTTHUMG00000024218 uc004fie.3 X81109 NM_005745 "CCDS14727|CCDS48191" P51572 MGI:1350933 RGD:1302944 300398 376561 HGNC:16695 "ENST00000345046.12|NM_001256447.2" HGNC:16695 +HGNC:24131 BCAP29 B cell receptor associated protein 29 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "BAP29|DKFZp686M2086" B-cell receptor-associated protein 29 2003-12-22 2017-12-06 2023-03-15 55973 ENSG00000075790 OTTHUMG00000154770 uc003vej.3 NM_018844 "CCDS34731|CCDS34730" Q9UHQ4 "8070407|12886015" MGI:101917 RGD:1359431 619612 HGNC:24131 "ENST00000005259.9|NM_018844.4" +HGNC:16695 BCAP31 B cell receptor associated protein 31 protein-coding gene gene with protein product Approved Xq28 Xq28 "DXS1357E|BAP31|6C6-Ag|CDM" 2003-12-22 2017-12-06 2023-01-20 10134 ENSG00000185825 OTTHUMG00000024218 uc004fie.3 X81109 NM_005745 "CCDS48191|CCDS14727" P51572 MGI:1350933 RGD:1302944 300398 376561 HGNC:16695 "ENST00000345046.12|NM_001256447.2" HGNC:16695 HGNC:51323 BCAP31P1 B cell receptor associated protein 31 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 TCONS_l2_00010135 B cell receptor-associated protein 31 pseudogene 1 2014-10-03 2017-12-06 2017-12-06 100194425 ENSG00000261217 OTTHUMG00000176372 NG_009002 HGNC:51323 HGNC:51324 BCAP31P2 B cell receptor associated protein 31 pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 TCONS_l2_00009689 B cell receptor-associated protein 31 pseudogene 2 2014-10-03 2017-12-06 2017-12-06 100194426 ENSG00000260047 OTTHUMG00000176440 NG_009003 PGOHUM00000293807 HGNC:51324 -HGNC:971 BCAR1 BCAR1 scaffold protein, Cas family member protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "P130Cas|Crkas|CAS|CASS1" "Crk-associated substrate|Cas scaffolding protein family member 1" "breast cancer anti-estrogen resistance 1|BCAR1, Cas family scaffolding protein|BCAR1, Cas family scaffold protein" Cas scaffold proteins 469 1999-04-29 2019-01-25 2023-01-20 9564 ENSG00000050820 OTTHUMG00000137604 uc002fdv.4 AJ242987 NM_014567 "CCDS54043|CCDS54040|CCDS54041|CCDS10915|CCDS54042|CCDS54038|CCDS54037|CCDS54039" P56945 "8413311|10639512" MGI:108091 RGD:2406 602941 HGNC:971 "ENST00000162330.10|NM_014567.5" +HGNC:971 BCAR1 BCAR1 scaffold protein, Cas family member protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "P130Cas|Crkas|CAS|CASS1" "Crk-associated substrate|Cas scaffolding protein family member 1" "breast cancer anti-estrogen resistance 1|BCAR1, Cas family scaffolding protein|BCAR1, Cas family scaffold protein" Cas scaffold proteins 469 1999-04-29 2019-01-25 2023-01-20 9564 ENSG00000050820 OTTHUMG00000137604 uc002fdv.4 AJ242987 NM_014567 "CCDS54040|CCDS10915|CCDS54038|CCDS54042|CCDS54037|CCDS54039|CCDS54041|CCDS54043" P56945 "8413311|10639512" MGI:108091 RGD:2406 602941 HGNC:971 "ENST00000162330.10|NM_014567.5" HGNC:51325 BCAR1P1 BCAR1 pseudogene 1 pseudogene pseudogene Approved 15q11.1 15q11.1 breast cancer anti-estrogen resistance 1 pseudogene 1 2014-10-03 2019-01-25 2019-01-25 100533717 ENSG00000258397 OTTHUMG00000171656 NG_028857 PGOHUM00000246616 HGNC:51325 HGNC:51326 BCAR1P2 BCAR1 pseudogene 2 pseudogene pseudogene Approved 15q11.2 15q11.2 breast cancer anti-estrogen resistance 1 pseudogene 2 2014-10-03 2019-01-25 2019-01-25 100533718 ENSG00000258771 OTTHUMG00000171713 NG_028859 PGOHUM00000246633 HGNC:51326 -HGNC:973 BCAR3 BCAR3 adaptor protein, NSP family member protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "NSP2|SH2D3B|AND-34|MIG7" migration inducting gene-7 "breast cancer anti-estrogen resistance 3|BCAR3, NSP family adaptor protein" "SH2 domain containing|NSP adaptor proteins" "741|1562" 1999-04-29 2019-01-25 2023-01-20 8412 ENSG00000137936 OTTHUMG00000010301 uc001dqb.5 U92715 NM_001261408 "CCDS58010|CCDS745|CCDS76181" O75815 "9582273|22081014" MGI:1352501 RGD:1311688 604704 HGNC:973 "ENST00000260502.11|NM_003567.4" +HGNC:973 BCAR3 BCAR3 adaptor protein, NSP family member protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "NSP2|SH2D3B|AND-34|MIG7" migration inducting gene-7 "breast cancer anti-estrogen resistance 3|BCAR3, NSP family adaptor protein" "SH2 domain containing|NSP adaptor proteins" "741|1562" 1999-04-29 2019-01-25 2023-01-20 8412 ENSG00000137936 OTTHUMG00000010301 uc001dqb.5 U92715 NM_001261408 "CCDS745|CCDS58010|CCDS76181" O75815 "9582273|22081014" MGI:1352501 RGD:1311688 604704 HGNC:973 "ENST00000260502.11|NM_003567.4" HGNC:40093 BCAR3-AS1 BCAR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.1 01p22.1 TP53LC19 Antisense RNAs 1987 2019-07-24 2022-07-22 100129046 ENSG00000224093 OTTHUMG00000010302 NR_034091 35609991 HGNC:40093 HGNC:22170 BCAR4 breast cancer anti-estrogen resistance 4 non-coding RNA RNA, long non-coding Approved 16p13.13 16p13.13 "breast cancer anti-estrogen resistance 4|breast cancer anti-estrogen resistance 4 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2006-05-09 2018-05-16 2018-07-20 400500 ENSG00000262117 OTTHUMG00000177469 uc059qxb.1 NR_024049 "16778085|23202989" 613746 BCAR4 HGNC:22170 -HGNC:974 BCAS1 brain enriched myelin associated protein 1 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "NABC1|AIBC1|PMES-2" "protein having mRNA enriched in synaptosomes 2|novel amplified in breast cancer 1" breast carcinoma amplified sequence 1 MicroRNA protein coding host genes 1691 1998-10-12 2020-03-05 2023-01-20 8537 ENSG00000064787 OTTHUMG00000032772 uc002xws.3 AF041260 NM_003657 "CCDS13444|CCDS93061|CCDS82631" O75363 "9671742|28230289|29212715" MGI:1924210 RGD:628644 602968 HGNC:974 "ENST00000688948.1|NM_001366298.2" +HGNC:974 BCAS1 brain enriched myelin associated protein 1 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "NABC1|AIBC1|PMES-2" "protein having mRNA enriched in synaptosomes 2|novel amplified in breast cancer 1" breast carcinoma amplified sequence 1 MicroRNA protein coding host genes 1691 1998-10-12 2020-03-05 2023-01-20 8537 ENSG00000064787 OTTHUMG00000032772 uc002xws.3 AF041260 NM_003657 "CCDS13444|CCDS82631|CCDS93061" O75363 "9671742|28230289|29212715" MGI:1924210 RGD:628644 602968 HGNC:974 "ENST00000688948.1|NM_001366298.2" HGNC:975 BCAS2 BCAS2 pre-mRNA processing factor protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "DAM1|SPF27|Snt309" DNA amplified in mammary carcinoma 1 "breast carcinoma amplified sequence 2|BCAS2, pre-mRNA processing factor" "NineTeen complex|Spliceosomal C complex" "1361|1510" 2000-01-31 2019-01-25 2023-01-20 10286 ENSG00000116752 OTTHUMG00000011898 uc001efa.4 AB020623 NM_005872 CCDS874 O75934 "9731529|10403562" MGI:1915433 RGD:1306485 605783 HGNC:975 "ENST00000369541.4|NM_005872.3" HGNC:39594 BCAS2P1 BCAS2 pseudogene 1 pseudogene pseudogene Approved 11q14.1 11q14.1 "breast carcinoma amplified sequence 2 pseudogene 1|BCAS2, pre-mRNA processing factor pseudogene 1" 2011-03-16 2019-01-18 2019-01-18 100127960 ENSG00000255051 OTTHUMG00000167015 NG_021825 PGOHUM00000242824 HGNC:39594 HGNC:39595 BCAS2P2 BCAS2 pseudogene 2 pseudogene pseudogene Approved 1p21.2 01p21.2 "breast carcinoma amplified sequence 2 pseudogene 2|BCAS2, pre-mRNA processing factor pseudogene 2" 2011-03-16 2019-01-18 2019-01-18 100421045 ENSG00000234332 OTTHUMG00000010985 NG_026962 PGOHUM00000244120 HGNC:39595 HGNC:39596 BCAS2P3 BCAS2 pseudogene 3 pseudogene pseudogene Approved 13q31.1 13q31.1 "breast carcinoma amplified sequence 2 pseudogene 3|BCAS2, pre-mRNA processing factor pseudogene 3" 2011-03-16 2019-01-18 2019-01-18 100128339 ENSG00000226670 OTTHUMG00000017128 NG_021971 PGOHUM00000248645 HGNC:39596 -HGNC:14347 BCAS3 BCAS3 microtubule associated cell migration factor protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "FLJ20128|PHAF2" "Rudhira|phagophore assembly factor 2" "breast carcinoma amplified sequence 3|BCAS3, microtubule associated cell migration factor" WD repeat domain containing 362 2001-01-09 2019-01-25 2023-01-20 54828 ENSG00000141376 OTTHUMG00000180064 uc002iyu.5 AF361219 NM_017679 "CCDS82176|CCDS45749|CCDS11626|CCDS82178|CCDS82177" Q9H6U6 "18030336|22300583|33499712" MGI:2385848 RGD:1560788 607470 HGNC:14347 "ENST00000407086.8|NM_017679.5" +HGNC:14347 BCAS3 BCAS3 microtubule associated cell migration factor protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "FLJ20128|PHAF2" "Rudhira|phagophore assembly factor 2" "breast carcinoma amplified sequence 3|BCAS3, microtubule associated cell migration factor" WD repeat domain containing 362 2001-01-09 2019-01-25 2023-01-20 54828 ENSG00000141376 OTTHUMG00000180064 uc002iyu.5 AF361219 NM_017679 "CCDS11626|CCDS82178|CCDS82177|CCDS82176|CCDS45749" Q9H6U6 "18030336|22300583|33499712" MGI:2385848 RGD:1560788 607470 HGNC:14347 "ENST00000407086.8|NM_017679.5" HGNC:56376 BCAS3-AS1 BCAS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q23.2 17q23.2 AC005884.1 Antisense RNAs 1987 2022-10-17 2022-10-17 127379719 ENSG00000267207 HGNC:14367 BCAS4 breast carcinoma amplified sequence 4 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "FLJ20495|CNOL" 2001-01-18 2023-03-15 55653 ENSG00000124243 OTTHUMG00000032735 uc002xvr.5 AK000502 NM_017843 "CCDS13432|CCDS33487" Q8TDM0 12378525 607471 HGNC:14367 "ENST00000371608.8|NM_198799.4" -HGNC:976 BCAT1 branched chain amino acid transaminase 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 BCATc BCT1 branched chain aminotransferase 1, cytosolic 2001-06-22 2016-03-07 2023-01-20 586 ENSG00000060982 OTTHUMG00000169053 uc001rgd.5 NM_005504 "CCDS44845|CCDS53761|CCDS53763|CCDS53760|CCDS53762" P54687 9165094 MGI:104861 RGD:2195 113520 objectId:3210 2.6.1.42 HGNC:976 "ENST00000261192.12|NM_005504.7" -HGNC:977 BCAT2 branched chain amino acid transaminase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "BCAM|BCATm" BCT2 branched chain aminotransferase 2, mitochondrial Minor histocompatibility antigens 870 2001-06-22 2016-03-07 2023-01-20 587 ENSG00000105552 OTTHUMG00000183327 uc002pkr.4 U68418 NM_001164773 "CCDS54290|CCDS12735|CCDS74416" O15382 9165094 MGI:1276534 RGD:68948 113530 469978 objectId:2893 2.6.1.42 HGNC:977 "ENST00000316273.11|NM_001190.4" HGNC:977 -HGNC:978 BCCIP BRCA2 and CDKN1A interacting protein protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "BCCIPalpha|TOK-1" BRCA2 and CDKN1A-interacting protein 2000-08-11 2001-11-29 2023-01-20 56647 ENSG00000107949 OTTHUMG00000019237 uc001ljb.5 AB040451 NM_016567 "CCDS7649|CCDS7651|CCDS7650" Q9P287 "11313963|10878006" MGI:1913415 RGD:1307362 611883 HGNC:978 "ENST00000278100.11|NM_078468.3" +HGNC:976 BCAT1 branched chain amino acid transaminase 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 BCATc BCT1 branched chain aminotransferase 1, cytosolic 2001-06-22 2016-03-07 2023-01-20 586 ENSG00000060982 OTTHUMG00000169053 uc001rgd.5 NM_005504 "CCDS44845|CCDS53762|CCDS53761|CCDS53763|CCDS53760" P54687 9165094 MGI:104861 RGD:2195 113520 objectId:3210 2.6.1.42 HGNC:976 "ENST00000261192.12|NM_005504.7" +HGNC:977 BCAT2 branched chain amino acid transaminase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "BCAM|BCATm" BCT2 branched chain aminotransferase 2, mitochondrial Minor histocompatibility antigens 870 2001-06-22 2016-03-07 2023-01-20 587 ENSG00000105552 OTTHUMG00000183327 uc002pkr.4 U68418 NM_001164773 "CCDS74416|CCDS54290|CCDS12735" O15382 9165094 MGI:1276534 RGD:68948 113530 469978 objectId:2893 2.6.1.42 HGNC:977 "ENST00000316273.11|NM_001190.4" HGNC:977 +HGNC:978 BCCIP BRCA2 and CDKN1A interacting protein protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "BCCIPalpha|TOK-1" BRCA2 and CDKN1A-interacting protein 2000-08-11 2001-11-29 2023-01-20 56647 ENSG00000107949 OTTHUMG00000019237 uc001ljb.5 AB040451 NM_016567 "CCDS7650|CCDS7649|CCDS7651" Q9P287 "11313963|10878006" MGI:1913415 RGD:1307362 611883 HGNC:978 "ENST00000278100.11|NM_078468.3" HGNC:27050 BCDIN3D BCDIN3 domain containing RNA methyltransferase protein-coding gene gene with protein product Approved 12q13.12 12q13.12 BCDIN3 domain containing 7BS DNA/RNA methyltransferases 2059 2007-04-19 2016-03-07 2023-01-20 144233 ENSG00000186666 OTTHUMG00000169807 uc001rvh.4 NM_181708 CCDS8790 Q7Z5W3 23063121 MGI:1922534 RGD:1306433 619601 HGNC:27050 "ENST00000333924.6|NM_181708.3" HGNC:44113 BCDIN3D-AS1 BCDIN3D antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 BCDIN3D antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100286844 ENSG00000258057 OTTHUMG00000169706 uc001rvg.4 BC014925 NR_027499 BCDIN3D-AS1 HGNC:44113 HGNC:983 BCHE butyrylcholinesterase protein-coding gene gene with protein product Approved 3q26.1 03q26.1 E1 "CHE1|CHE2" "cholinesterase 1|cholinesterase (serum) 2" 1986-01-01 2023-01-20 590 ENSG00000114200 OTTHUMG00000158131 uc003fem.5 M16541 NM_000055 CCDS3198 P06276 "1769657|2318303" MGI:894278 RGD:619996 ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives|http://bioweb.ensam.inra.fr/esther 177400 118998 S09.980 objectId:2471 3.1.1.8 HGNC:983 "ENST00000264381.8|NM_000055.4" HGNC:983 HGNC:986 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MSU maple syrup urine disease OVD1A "branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)|2-oxoisovalerate dehydrogenase (lipoamide)|branched chain keto acid dehydrogenase E1, alpha polypeptide" 1989-06-30 2019-04-24 2023-01-20 593 ENSG00000248098 OTTHUMG00000168128 uc002oqq.4 J04474 NM_000709 CCDS12581 P12694 MGI:107701 RGD:2196 608348 119002 HGNC:986 "ENST00000269980.7|NM_000709.4" HGNC:986 HGNC:987 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "maple syrup urine disease|2-oxoisovalerate dehydrogenase subunit beta, mitochondrial" branched chain keto acid dehydrogenase E1, beta polypeptide 1989-06-30 2016-07-04 2023-01-20 594 ENSG00000083123 OTTHUMG00000016430 uc003pje.3 M55575 NM_000056 CCDS4994 P21953 MGI:88137 RGD:2197 248611 119005 HGNC:987 "ENST00000320393.9|NM_183050.4" HGNC:987 -HGNC:16902 BCKDK branched chain keto acid dehydrogenase kinase protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2005-01-20 2019-04-24 2023-01-20 10295 ENSG00000103507 OTTHUMG00000047356 uc059tky.1 AF026548 NM_005881 "CCDS10705|CCDS61917|CCDS45467" O14874 1889817 MGI:1276121 RGD:2198 614901 312680 objectId:1939 HGNC:16902 "ENST00000219794.11|NM_005881.4" HGNC:16902 +HGNC:16902 BCKDK branched chain keto acid dehydrogenase kinase protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2005-01-20 2019-04-24 2023-01-20 10295 ENSG00000103507 OTTHUMG00000047356 uc059tky.1 AF026548 NM_005881 "CCDS45467|CCDS10705|CCDS61917" O14874 1889817 MGI:1276121 RGD:2198 614901 312680 objectId:1939 HGNC:16902 "ENST00000219794.11|NM_005881.4" HGNC:16902 HGNC:990 BCL2 BCL2 apoptosis regulator protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "Bcl-2|PPP1R50" protein phosphatase 1, regulatory subunit 50 "B-cell CLL/lymphoma 2|BCL2, apoptosis regulator" "Protein phosphatase 1 regulatory subunits|BCL2 family" "694|1057" 2001-06-22 2019-01-25 2023-01-20 596 ENSG00000171791 OTTHUMG00000132791 uc002liu.2 M14745 "NM_000633|NM_000657" "CCDS45882|CCDS11981" P10415 MGI:88138 RGD:2199 LRG_1113|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1113.xml BCL2 151430 119007 objectId:2844 HGNC:990 "ENST00000333681.5|NM_000633.3" -HGNC:991 BCL2A1 BCL2 related protein A1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "GRS|BFL1|BCL2L5|ACC-1|ACC-2|ACC2|ACC1" HBPA1 "Minor histocompatibility antigens|BCL2 family" "870|1057" 1995-05-08 2016-01-13 2023-01-20 597 ENSG00000140379 OTTHUMG00000144173 uc002bfc.5 NM_004049 "CCDS45322|CCDS10312" Q16548 "8589678|12771180" "MGI:102687|MGI:1278326|MGI:1278325" RGD:620621 601056 HGNC:991 "ENST00000267953.4|NM_004049.4" -HGNC:992 BCL2L1 BCL2 like 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "BCLX|BCL2L|Bcl-X|bcl-xL|bcl-xS|PPP1R52" protein phosphatase 1, regulatory subunit 52 "Protein phosphatase 1 regulatory subunits|BCL2 family" "694|1057" 1997-10-30 2016-01-13 2023-01-20 598 ENSG00000171552 OTTHUMG00000032192 uc002wwl.4 Z23115 NM_138578 "CCDS13189|CCDS13188" Q07817 8358789 MGI:88139 RGD:2200 600039 objectId:2845 HGNC:992 "ENST00000307677.5|NM_138578.3" +HGNC:991 BCL2A1 BCL2 related protein A1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "GRS|BFL1|BCL2L5|ACC-1|ACC-2|ACC2|ACC1" HBPA1 "Minor histocompatibility antigens|BCL2 family" "870|1057" 1995-05-08 2016-01-13 2023-01-20 597 ENSG00000140379 OTTHUMG00000144173 uc002bfc.5 NM_004049 "CCDS10312|CCDS45322" Q16548 "8589678|12771180" "MGI:102687|MGI:1278326|MGI:1278325" RGD:620621 601056 HGNC:991 "ENST00000267953.4|NM_004049.4" +HGNC:992 BCL2L1 BCL2 like 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "BCLX|BCL2L|Bcl-X|bcl-xL|bcl-xS|PPP1R52" protein phosphatase 1, regulatory subunit 52 "Protein phosphatase 1 regulatory subunits|BCL2 family" "694|1057" 1997-10-30 2016-01-13 2023-01-20 598 ENSG00000171552 OTTHUMG00000032192 uc002wwl.4 Z23115 NM_138578 "CCDS13188|CCDS13189" Q07817 8358789 MGI:88139 RGD:2200 600039 objectId:2845 HGNC:992 "ENST00000307677.5|NM_138578.3" HGNC:40095 BCL2L1-AS1 BCL2L1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 Antisense RNAs 1987 2019-07-24 2019-07-24 105372589 ENSG00000236559 OTTHUMG00000032185 XR_007067558 HGNC:40095 HGNC:995 BCL2L2 BCL2 like 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA0271|BCL-W|PPP1R51" protein phosphatase 1, regulatory subunit 51 "Protein phosphatase 1 regulatory subunits|BCL2 family" "694|1057" 1997-07-22 2016-01-13 2023-01-20 599 ENSG00000129473 OTTHUMG00000028738 uc001wjg.4 D87461 NM_004050 CCDS9591 Q92843 8761287 MGI:108052 RGD:620717 601931 objectId:2846 HGNC:995 "ENST00000250405.10|NM_004050.5" HGNC:42959 BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough other readthrough Approved 14q11.2 14q11.2 2011-09-28 2023-03-15 100529063 ENSG00000258643 OTTHUMG00000171498 uc001wjh.5 NM_001199864 Q92843 MGI:108052 HGNC:42959 HGNC:993 BCL2L10 BCL2 like 10 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "Diva|Boo|BCL-B" BCL2-like 10 (apoptosis facilitator) BCL2 family 1057 1999-05-21 2016-01-13 2023-01-20 10017 ENSG00000137875 OTTHUMG00000131893 uc002abq.4 AF285092 NM_001306168 "CCDS10148|CCDS76756" Q9HD36 "9829980|9878060" MGI:1330841 RGD:621015 606910 HGNC:993 "ENST00000260442.3|NM_020396.4" -HGNC:994 BCL2L11 BCL2 like 11 protein-coding gene gene with protein product Approved 2q13 02q13 "BOD|BimL|BimEL|BimS|BIM" BCL2-like 11 (apoptosis facilitator) BCL2 homology region 3 (BH3) only 1277 1999-12-10 2016-01-13 2023-03-15 10018 ENSG00000153094 OTTHUMG00000131256 uc002tgv.2 AF032458 NM_001204106 "CCDS56131|CCDS56134|CCDS56135|CCDS42731|CCDS74559|CCDS56136|CCDS74560|CCDS74561|CCDS56133|CCDS2092|CCDS2089|CCDS56132" O43521 "9731710|9430630" MGI:1197519 RGD:628774 LRG_620|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_620.xml 603827 469980 HGNC:994 "ENST00000393256.8|NM_138621.5" -HGNC:13787 BCL2L12 BCL2 like 12 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 BCL2-like 12 (proline rich) BCL2 family 1057 2001-04-27 2016-01-13 2023-03-15 83596 ENSG00000126453 OTTHUMG00000183239 uc002ppa.4 AF289220 NM_052842 "CCDS92666|CCDS92665|CCDS92664|CCDS12776" Q9HB09 MGI:1922986 RGD:1307361 610837 HGNC:13787 "ENST00000246784.8|NM_138639.2" +HGNC:994 BCL2L11 BCL2 like 11 protein-coding gene gene with protein product Approved 2q13 02q13 "BOD|BimL|BimEL|BimS|BIM" BCL2-like 11 (apoptosis facilitator) BCL2 homology region 3 (BH3) only 1277 1999-12-10 2016-01-13 2023-03-15 10018 ENSG00000153094 OTTHUMG00000131256 uc002tgv.2 AF032458 NM_001204106 "CCDS2092|CCDS56136|CCDS74559|CCDS74561|CCDS56135|CCDS56132|CCDS56134|CCDS2089|CCDS56131|CCDS56133|CCDS42731|CCDS74560" O43521 "9731710|9430630" MGI:1197519 RGD:628774 LRG_620|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_620.xml 603827 469980 HGNC:994 "ENST00000393256.8|NM_138621.5" +HGNC:13787 BCL2L12 BCL2 like 12 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 BCL2-like 12 (proline rich) BCL2 family 1057 2001-04-27 2016-01-13 2023-03-15 83596 ENSG00000126453 OTTHUMG00000183239 uc002ppa.4 AF289220 NM_052842 "CCDS92666|CCDS12776|CCDS92664|CCDS92665" Q9HB09 MGI:1922986 RGD:1307361 610837 HGNC:13787 "ENST00000246784.8|NM_138639.2" HGNC:51327 BCL2L12P1 BCL2 like 12 pseudogene 1 pseudogene pseudogene Approved 3q22.1 03q22.1 BCL2-like 12 (proline rich) pseudogene 1 2014-10-03 2016-01-13 2016-01-13 100289095 ENSG00000248530 OTTHUMG00000159630 NG_022270 PGOHUM00000299591 HGNC:51327 -HGNC:17164 BCL2L13 BCL2 like 13 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "MIL1|BCL-RAMBO" BCL2-like 13 (apoptosis facilitator) BCL2 family 1057 2002-09-20 2016-01-13 2023-01-20 23786 ENSG00000099968 OTTHUMG00000150088 uc002zmw.5 AF146568 NM_015367 "CCDS74812|CCDS86995|CCDS59448|CCDS74811|CCDS74814|CCDS74810|CCDS59447|CCDS13746|CCDS74813" Q9BXK5 "11262395|11381032|26146385" MGI:2136959 RGD:1306985 619822 HGNC:17164 "ENST00000317582.10|NM_015367.4" -HGNC:16657 BCL2L14 BCL2 like 14 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "BCLG|BCL-G" BCL2-like 14 (apoptosis facilitator) BCL2 family 1057 2004-02-09 2016-01-13 2023-03-15 79370 ENSG00000121380 OTTHUMG00000159528 uc058lhp.1 AF281254 NM_030766 "CCDS8645|CCDS8646" Q9BZR8 11054413 MGI:1914063 RGD:1562777 606126 HGNC:16657 "ENST00000308721.9|NM_138723.2" +HGNC:17164 BCL2L13 BCL2 like 13 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "MIL1|BCL-RAMBO" BCL2-like 13 (apoptosis facilitator) BCL2 family 1057 2002-09-20 2016-01-13 2023-01-20 23786 ENSG00000099968 OTTHUMG00000150088 uc002zmw.5 AF146568 NM_015367 "CCDS86995|CCDS59448|CCDS13746|CCDS74812|CCDS74810|CCDS74814|CCDS74811|CCDS74813|CCDS59447" Q9BXK5 "11262395|11381032|26146385" MGI:2136959 RGD:1306985 619822 HGNC:17164 "ENST00000317582.10|NM_015367.4" +HGNC:16657 BCL2L14 BCL2 like 14 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "BCLG|BCL-G" BCL2-like 14 (apoptosis facilitator) BCL2 family 1057 2004-02-09 2016-01-13 2023-03-15 79370 ENSG00000121380 OTTHUMG00000159528 uc058lhp.1 AF281254 NM_030766 "CCDS8646|CCDS8645" Q9BZR8 11054413 MGI:1914063 RGD:1562777 606126 HGNC:16657 "ENST00000308721.9|NM_138723.2" HGNC:33624 BCL2L15 BCL2 like 15 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "Bfk|FLJ22588" C1orf178 chromosome 1 open reading frame 178 BCL2 family 1057 2007-09-24 2016-01-13 2023-01-20 440603 ENSG00000188761 OTTHUMG00000011940 uc001edw.4 NM_001010922 CCDS30809 Q5TBC7 "12700646|15961081|16690252|17412810" MGI:2685412 RGD:1562344 619660 HGNC:33624 "ENST00000393316.8|NM_001010922.3" HGNC:998 BCL3 BCL3 transcription coactivator protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "B-cell lymphoma 3-encoded protein|B-cell leukemia/lymphoma 3|chronic lymphatic leukemia protein" "D19S37|BCL4" "B cell CLL/lymphoma 3|BCL3, transcription coactivator" "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 1986-01-01 2019-01-25 2023-01-20 602 ENSG00000069399 OTTHUMG00000151517 uc010xxe.3 M31732 NM_005178 CCDS12642 P20749 "1501714|2180580|23063365" MGI:88140 RGD:1589465 BCL3 109560 HGNC:998 "ENST00000164227.10|NM_005178.5" HGNC:1001 BCL6 BCL6 transcription repressor protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "ZBTB27|LAZ3|BCL5|BCL6A" ZNF51 "zinc finger protein 51|B cell CLL/lymphoma 6|BCL6, transcription repressor" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1993-04-12 2019-01-25 2023-01-20 604 ENSG00000113916 OTTHUMG00000156441 uc003frq.3 NM_001706 "CCDS46975|CCDS3289" P41182 8057668 MGI:107187 RGD:1309345 BCL6 109565 158372 objectId:2957 HGNC:1001 "ENST00000406870.7|NM_001706.5" HGNC:51843 BCL6-AS1 BCL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 lnc-RP11-211G3.3.1-1 BCL6 antisense 1 Antisense RNAs 1987 2017-08-03 2019-12-20 2023-02-02 106146153 26276666 HGNC:1002 BCL6B BCL6B transcription repressor protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "ZBTB28|BAZF" ZNF62 "zinc finger protein 62|B-cell CLL/lymphoma 6, member B (zinc finger protein)|B-cell CLL/lymphoma 6, member B|B cell CLL/lymphoma 6B|BCL6B, transcription repressor" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2000-01-20 2019-01-25 2023-01-20 255877 ENSG00000161940 OTTHUMG00000177882 uc010clt.2 AI672318 NM_181844 CCDS42248 Q8N143 9632807 MGI:1278332 RGD:1563179 608992 HGNC:1002 "ENST00000293805.10|NM_181844.4" HGNC:1004 BCL7A BAF chromatin remodeling complex subunit BCL7A protein-coding gene gene with protein product Approved 12q24.31 12q24.31 SMARCJ1 BCL7 "B-cell CLL/lymphoma 7A|BCL tumor suppressor 7A|BCL7A, BAF complex component" BAF complex 1604 1999-03-19 2019-01-25 2023-01-20 605 ENSG00000110987 OTTHUMG00000168951 uc001ubp.4 X89984 NM_001024808 "CCDS9226|CCDS53841" Q4VC05 "8605326|9931421|23644491" MGI:1924295 RGD:1585128 BCL7A 601406 HGNC:1004 "ENST00000261822.5|NM_001024808.3" -HGNC:1005 BCL7B BAF chromatin remodeling complex subunit BCL7B protein-coding gene gene with protein product Approved 7q11.23 07q11.23 SMARCJ2 "B-cell CLL/lymphoma 7B|BCL tumor suppressor 7B|BCL7B, BAF complex component" BAF complex 1604 1999-03-19 2019-01-25 2023-01-20 9275 ENSG00000106635 OTTHUMG00000023412 uc003tyf.3 X89985 NM_001707 "CCDS56489|CCDS75613|CCDS5550" Q9BQE9 "8605326|9806765|23644491" MGI:1332238 RGD:1597090 605846 HGNC:1005 "ENST00000223368.7|NM_001707.4" -HGNC:1006 BCL7C BAF chromatin remodeling complex subunit BCL7C protein-coding gene gene with protein product Approved 16p11.2 16p11.2 SMARCJ3 "B-cell CLL/lymphoma 7C|BCL tumor suppressor 7C|BCL7C, BAF complex component" "BAF complex|MicroRNA protein coding host genes" "1604|1691" 1999-03-19 2019-01-25 2023-01-20 9274 ENSG00000099385 OTTHUMG00000177719 uc002dzv.5 AJ223980 NM_004765 "CCDS67012|CCDS10693" Q8WUZ0 "9931421|23644491" MGI:1332237 RGD:1308439 605847 HGNC:1006 "ENST00000215115.5|NM_004765.4" +HGNC:1005 BCL7B BAF chromatin remodeling complex subunit BCL7B protein-coding gene gene with protein product Approved 7q11.23 07q11.23 SMARCJ2 "B-cell CLL/lymphoma 7B|BCL tumor suppressor 7B|BCL7B, BAF complex component" BAF complex 1604 1999-03-19 2019-01-25 2023-01-20 9275 ENSG00000106635 OTTHUMG00000023412 uc003tyf.3 X89985 NM_001707 "CCDS75613|CCDS56489|CCDS5550" Q9BQE9 "8605326|9806765|23644491" MGI:1332238 RGD:1597090 605846 HGNC:1005 "ENST00000223368.7|NM_001707.4" +HGNC:1006 BCL7C BAF chromatin remodeling complex subunit BCL7C protein-coding gene gene with protein product Approved 16p11.2 16p11.2 SMARCJ3 "B-cell CLL/lymphoma 7C|BCL tumor suppressor 7C|BCL7C, BAF complex component" "BAF complex|MicroRNA protein coding host genes" "1604|1691" 1999-03-19 2019-01-25 2023-01-20 9274 ENSG00000099385 OTTHUMG00000177719 uc002dzv.5 AJ223980 NM_004765 "CCDS10693|CCDS67012" Q8WUZ0 "9931421|23644491" MGI:1332237 RGD:1308439 605847 HGNC:1006 "ENST00000215115.5|NM_004765.4" HGNC:1008 BCL9 BCL9 transcription coactivator protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "B cell CLL/lymphoma 9|BCL9, transcription coactivator" Wnt enhanceosome complex 1677 1997-07-01 2019-01-25 2023-01-20 607 ENSG00000116128 OTTHUMG00000014031 uc031uul.2 Y13620 NM_004326 CCDS30833 O00512 "11955446|9490669" MGI:1924828 RGD:1306934 BCL9 602597 469982 HGNC:1008 "ENST00000234739.8|NM_004326.4" -HGNC:23688 BCL9L BCL9 like protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "DLNB11|B9L|Bcl9-2" B cell CLL/lymphoma 9 like Wnt enhanceosome complex 1677 2003-12-09 2018-11-16 2023-01-20 283149 ENSG00000186174 OTTHUMG00000166414 uc001pug.5 AB094091 NM_182557 "CCDS8403|CCDS91603" Q86UU0 "12964048|15574752" MGI:1933114 RGD:1309096 BCL9L 609004 HGNC:23688 "ENST00000683865.1|NM_001378213.1" +HGNC:23688 BCL9L BCL9 like protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "DLNB11|B9L|Bcl9-2" B cell CLL/lymphoma 9 like Wnt enhanceosome complex 1677 2003-12-09 2018-11-16 2023-01-20 283149 ENSG00000186174 OTTHUMG00000166414 uc001pug.5 AB094091 NM_182557 "CCDS91603|CCDS8403" Q86UU0 "12964048|15574752" MGI:1933114 RGD:1309096 BCL9L 609004 HGNC:23688 "ENST00000683865.1|NM_001378213.1" HGNC:51328 BCL9P1 BCL9 pseudogene 1 pseudogene pseudogene Approved 5q13.1 05q13.1 B cell CLL/lymphoma 9 pseudogene 1 2014-10-03 2019-01-25 2019-01-25 100419324 ENSG00000249238 OTTHUMG00000162353 NG_024682 PGOHUM00000300980 HGNC:51328 -HGNC:989 BCL10 BCL10 immune signaling adaptor protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "CARMEN|CIPER|mE10|c-E10|CLAP" "CARD-like apoptotic protein|CARD-containing apoptotic signaling protein|CARD containing molecule enhancing NF-kB|caspase-recruiting domain-containing protein|CARD-containing proapoptotic protein" "B cell CLL/lymphoma 10|BCL10, immune signaling adaptor" "Caspase recruitment domain containing|CBM complex" "959|1405" 1999-01-08 2019-01-25 2023-01-20 8915 ENSG00000142867 OTTHUMG00000009965 uc021opd.3 AJ006288 NM_003921 "CCDS90994|CCDS704" O95999 9989495 MGI:1337994 RGD:620544 LRG_1210|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1210.xml BCL10 603517 454025 HGNC:989 "ENST00000648566.1|NM_003921.5" +HGNC:989 BCL10 BCL10 immune signaling adaptor protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "CARMEN|CIPER|mE10|c-E10|CLAP" "CARD-like apoptotic protein|CARD-containing apoptotic signaling protein|CARD containing molecule enhancing NF-kB|caspase-recruiting domain-containing protein|CARD-containing proapoptotic protein" "B cell CLL/lymphoma 10|BCL10, immune signaling adaptor" "Caspase recruitment domain containing|CBM complex" "959|1405" 1999-01-08 2019-01-25 2023-01-20 8915 ENSG00000142867 OTTHUMG00000009965 uc021opd.3 AJ006288 NM_003921 "CCDS704|CCDS90994" O95999 9989495 MGI:1337994 RGD:620544 LRG_1210|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1210.xml BCL10 603517 454025 HGNC:989 "ENST00000648566.1|NM_003921.5" HGNC:55868 BCL10-AS1 BCL10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.3 01p22.3 Antisense RNAs 1987 2021-09-06 2021-09-06 646626 ENSG00000223653 NR_045484 -HGNC:13221 BCL11A BCL11 transcription factor A protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "BCL11A-XL|BCL11A-L|BCL11A-S|CTIP1|HBFQTL5|ZNF856|SMARCM1" EVI9 "ecotropic viral integration site 9|B-cell CLL/lymphoma 11A (zinc finger protein)|B cell CLL/lymphoma 11A|BCL11A, BAF complex component|BAF chromatin remodeling complex subunit BCL11A" "Zinc fingers C2H2-type|BAF complex" "28|1604" 2001-02-28 2022-10-20 2023-01-20 53335 ENSG00000119866 OTTHUMG00000129420 uc002sae.2 AJ404611 NM_022893 "CCDS1861|CCDS86845|CCDS46295|CCDS92761|CCDS1862" Q9H165 "11719382|18245381|23644491" MGI:106190 RGD:1309923 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=BCL11A BCL11A 606557 139145 HGNC:13221 "ENST00000642384.2|NM_022893.4" HGNC:13221 +HGNC:13221 BCL11A BCL11 transcription factor A protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "BCL11A-XL|BCL11A-L|BCL11A-S|CTIP1|HBFQTL5|ZNF856|SMARCM1" EVI9 "ecotropic viral integration site 9|B-cell CLL/lymphoma 11A (zinc finger protein)|B cell CLL/lymphoma 11A|BCL11A, BAF complex component|BAF chromatin remodeling complex subunit BCL11A" "Zinc fingers C2H2-type|BAF complex" "28|1604" 2001-02-28 2022-10-20 2023-01-20 53335 ENSG00000119866 OTTHUMG00000129420 uc002sae.2 AJ404611 NM_022893 "CCDS86845|CCDS46295|CCDS1862|CCDS92761|CCDS1861" Q9H165 "11719382|18245381|23644491" MGI:106190 RGD:1309923 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=BCL11A BCL11A 606557 139145 HGNC:13221 "ENST00000642384.2|NM_022893.4" HGNC:13221 HGNC:13222 BCL11B BCL11 transcription factor B protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "CTIP-2|CTIP2|hRIT1-alpha|SMARCM2" ZNF856B "B-cell CLL/lymphoma 11B (zinc finger protein)|B cell CLL/lymphoma 11B|BCL11B, BAF complex component|BAF chromatin remodeling complex subunit BCL11B" "Zinc fingers C2H2-type|BAF complex" "28|1604" 2001-02-28 2022-10-20 2023-01-20 64919 ENSG00000127152 OTTHUMG00000028967 uc001yga.5 AJ404614 NM_138576 "CCDS9950|CCDS9949" Q9C0K0 "11719382|16950772|23644491" MGI:1929913 RGD:1311128 BCL11B 606558 HGNC:13222 "ENST00000357195.8|NM_138576.4" HGNC:13222 -HGNC:16863 BCLAF1 BCL2 associated transcription factor 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "KIAA0164|BTF" BCLAF1 and THRAP3 family member 1 BCL2-associated transcription factor 1 WTAP complex 1420 2004-01-13 2016-01-28 2023-01-20 9774 ENSG00000029363 OTTHUMG00000033323 uc003qgx.1 AF249273 NM_014739 "CCDS47485|CCDS5177|CCDS87444|CCDS75525|CCDS47486" Q9NYF8 "8724849|10330179" MGI:1917580 RGD:1309704 612588 HGNC:16863 "ENST00000531224.6|NM_014739.3" +HGNC:16863 BCLAF1 BCL2 associated transcription factor 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "KIAA0164|BTF" BCLAF1 and THRAP3 family member 1 BCL2-associated transcription factor 1 WTAP complex 1420 2004-01-13 2016-01-28 2023-01-20 9774 ENSG00000029363 OTTHUMG00000033323 uc003qgx.1 AF249273 NM_014739 "CCDS47485|CCDS87444|CCDS75525|CCDS47486|CCDS5177" Q9NYF8 "8724849|10330179" MGI:1917580 RGD:1309704 612588 HGNC:16863 "ENST00000531224.6|NM_014739.3" HGNC:51329 BCLAF1P1 BCL2 associated transcription factor 1 pseudogene 1 pseudogene pseudogene Approved 5q22.1 05q22.1 BCL2-associated transcription factor 1 pseudogene 1 2014-10-03 2016-01-28 2016-01-28 728366 ENSG00000248966 OTTHUMG00000163298 NG_005782 PGOHUM00000300710 HGNC:51329 HGNC:51807 BCLAF1P2 BCL2 associated transcription factor 1 pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 BCL2-associated transcription factor 1 pseudogene 2 2015-06-09 2016-01-28 2016-01-28 731605 ENSG00000279800 OTTHUMG00000191386 XM_047435041 PGOHUM00000293564 HGNC:51807 -HGNC:27413 BCLAF3 BCLAF1 and THRAP3 family member 3 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 CXorf23 chromosome X open reading frame 23 2004-06-04 2017-06-09 2017-06-09 2023-01-20 256643 ENSG00000173681 OTTHUMG00000021226 uc004czp.4 AL833278 NM_198279 "CCDS14194|CCDS94576" A2AJT9 14702039 MGI:2685992 RGD:1562161 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf23 HGNC:27413 "ENST00000379682.9|NM_001367774.2" +HGNC:27413 BCLAF3 BCLAF1 and THRAP3 family member 3 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 CXorf23 chromosome X open reading frame 23 2004-06-04 2017-06-09 2017-06-09 2023-01-20 256643 ENSG00000173681 OTTHUMG00000021226 uc004czp.4 AL833278 NM_198279 "CCDS94576|CCDS14194" A2AJT9 14702039 MGI:2685992 RGD:1562161 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf23 HGNC:27413 "ENST00000379682.9|NM_001367774.2" HGNC:13815 BCO1 beta-carotene oxygenase 1 protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "FLJ10730|BCMO" "BCDO|BCDO1|BCMO1" "beta-carotene 15, 15'-dioxygenase 1|beta-carotene 15,15'-monooxygenase 1" 2000-11-13 2014-07-21 2014-07-21 2023-01-20 53630 ENSG00000135697 OTTHUMG00000137630 AF294900 NM_017429 CCDS10934 Q9HAY6 "10766819|10799297|24187135" MGI:1926923 RGD:70981 605748 204452 1.13.11.63 HGNC:13815 "ENST00000258168.7|NM_017429.3" HGNC:13815 -HGNC:18503 BCO2 beta-carotene oxygenase 2 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "FLJ34464|B-DIOX-II" "beta-carotene 9',10' oxygenase|carotenoid-9',10'-cleaving dioxygenase" BCDO2 beta-carotene dioxygenase 2 2002-04-10 2008-04-15 2008-04-15 2023-01-20 83875 ENSG00000197580 OTTHUMG00000167155 uc001pnf.4 AJ290393 NM_001037290 "CCDS58181|CCDS58182|CCDS8358|CCDS58183|CCDS41716" Q9BYV7 "11278918|15983114|15949678" MGI:2177469 RGD:1309022 611740 1.13.11.71 HGNC:18503 "ENST00000357685.11|NM_031938.7" -HGNC:20893 BCOR BCL6 corepressor protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "FLJ20285|KIAA1575" "BCL6 interacting corepressor|BCL-6 coreceptor" BCL6 co-repressor Ankyrin repeat domain containing 403 2003-05-22 2010-06-10 2023-03-15 54880 ENSG00000183337 OTTHUMG00000024100 uc004dep.5 AF317391 NM_017745 "CCDS14250|CCDS48092|CCDS48093" Q6W2J9 10898795 MGI:1918708 RGD:1562735 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BCOR|LRG_627|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_627.xml" BCOR 300485 119012 HGNC:20893 "ENST00000378444.9|NM_001123385.2" HGNC:20893 -HGNC:25657 BCORL1 BCL6 corepressor like 1 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 FLJ11362 CXorf10 "chromosome X open reading frame 10|BCL6 co-repressor-like 1" Ankyrin repeat domain containing 403 2004-07-27 2017-02-20 2023-01-20 63035 ENSG00000085185 OTTHUMG00000022379 uc065bbq.1 AL136450 NM_021946 "CCDS94663|CCDS14616" Q5H9F3 MGI:2443910 RGD:1566108 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BCORL1|LRG_628|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_628.xml" BCORL1 300688 469984 HGNC:25657 "ENST00000540052.6|NM_001379451.1" HGNC:25657 +HGNC:18503 BCO2 beta-carotene oxygenase 2 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "FLJ34464|B-DIOX-II" "beta-carotene 9',10' oxygenase|carotenoid-9',10'-cleaving dioxygenase" BCDO2 beta-carotene dioxygenase 2 2002-04-10 2008-04-15 2008-04-15 2023-01-20 83875 ENSG00000197580 OTTHUMG00000167155 uc001pnf.4 AJ290393 NM_001037290 "CCDS58183|CCDS8358|CCDS41716|CCDS58181|CCDS58182" Q9BYV7 "11278918|15983114|15949678" MGI:2177469 RGD:1309022 611740 1.13.11.71 HGNC:18503 "ENST00000357685.11|NM_031938.7" +HGNC:20893 BCOR BCL6 corepressor protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "FLJ20285|KIAA1575" "BCL6 interacting corepressor|BCL-6 coreceptor" BCL6 co-repressor Ankyrin repeat domain containing 403 2003-05-22 2010-06-10 2023-03-15 54880 ENSG00000183337 OTTHUMG00000024100 uc004dep.5 AF317391 NM_017745 "CCDS48092|CCDS48093|CCDS14250" Q6W2J9 10898795 MGI:1918708 RGD:1562735 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BCOR|LRG_627|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_627.xml" BCOR 300485 119012 HGNC:20893 "ENST00000378444.9|NM_001123385.2" HGNC:20893 +HGNC:25657 BCORL1 BCL6 corepressor like 1 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 FLJ11362 CXorf10 "chromosome X open reading frame 10|BCL6 co-repressor-like 1" Ankyrin repeat domain containing 403 2004-07-27 2017-02-20 2023-01-20 63035 ENSG00000085185 OTTHUMG00000022379 uc065bbq.1 AL136450 NM_021946 "CCDS14616|CCDS94663" Q5H9F3 MGI:2443910 RGD:1566108 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BCORL1|LRG_628|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_628.xml" BCORL1 300688 469984 HGNC:25657 "ENST00000540052.6|NM_001379451.1" HGNC:25657 HGNC:23953 BCORP1 BCL6 corepressor pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 FLJ39821 BCORL2 "BCL6 co-repressor-like 2|BCL6 corepressor-like 2" 2004-07-27 2010-09-30 2010-09-30 2023-03-15 286554 ENSG00000215580 OTTHUMG00000036498 AK097140 NR_033732 Q8N888 MGI:1918708 PGOHUM00000233784 HGNC:23953 HGNC:1014 BCR BCR activator of RhoGEF and GTPase protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "D22S662|CML|PHL|ALL" "D22S11|BCR1" "breakpoint cluster region|BCR, RhoGEF and GTPase activating protein" "Pleckstrin homology domain containing|Dbl family Rho GEFs|C2 domain containing|My-T-BRC complex" "682|722|823|1632" 1986-01-01 2019-01-25 2023-01-20 613 ENSG00000186716 OTTHUMG00000150655 uc002zww.4 NM_004327 "CCDS13807|CCDS13806" P11274 "1657398|18070886" MGI:88141 RGD:1307993 LRG_1112|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1112.xml BCR 151410 119016 objectId:2755 HGNC:1014 "ENST00000305877.13|NM_004327.4" HGNC:39073 BCRP1 BCR pseudogene 1 pseudogene pseudogene Approved 22q11.23 22q11.23 BCR-1 breakpoint cluster region pseudogene 1 2010-09-30 2019-01-25 2019-01-25 644079 ENSG00000225098 OTTHUMG00000150768 NG_009423 3267213 PGOHUM00000246290 HGNC:39073 @@ -2340,11 +2340,11 @@ HGNC:32389 BDH2 3-hydroxybutyrate dehydrogenase 2 protein-coding gene gene with HGNC:21476 BDH2P1 3-hydroxybutyrate dehydrogenase 2, pseudogene 1 pseudogene pseudogene Approved 6q16.2 06q16.2 bA758C21.1 DHRS6P1 "dehydrogenase/reductase (SDR family) member 6 pseudogene 1|3-hydroxybutyrate dehydrogenase, type 2 pseudogene 1" 2003-11-26 2006-01-16 2016-12-12 2016-12-12 389416 ENSG00000232699 OTTHUMG00000015260 NG_005299 21791085 HGNC:21476 HGNC:1029 BDKRB1 bradykinin receptor B1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "BKR1|B1BKR|bradyb1" Bradykinin receptors 223 1993-04-07 2023-01-20 623 ENSG00000100739 OTTHUMG00000171412 uc001yfh.4 L42383 NM_000710 CCDS9943 P46663 8808279 MGI:88144 RGD:620401 600337 objectId:41 HGNC:1029 "ENST00000216629.11|NM_000710.4" HGNC:1030 BDKRB2 bradykinin receptor B2 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 BK-2 Bradykinin receptors 223 1993-04-07 2023-01-20 624 ENSG00000168398 OTTHUMG00000171408 uc001yfg.3 S56772 NM_000623 CCDS9942 P30411 7916737 MGI:102845 RGD:2201 113503 objectId:42 HGNC:1030 "ENST00000554311.2|NM_001379692.1" -HGNC:1033 BDNF brain derived neurotrophic factor protein-coding gene gene with protein product Approved 11p14.1 11p14.1 neurotrophin Neurotrophins 1585 1991-01-15 2016-06-01 2023-01-20 627 ENSG00000176697 OTTHUMG00000178797 uc001mrz.5 AB038670 NM_170735 "CCDS7865|CCDS44558|CCDS41628|CCDS7866" P23560 "2236018|1889806|17942328|17493809" MGI:88145 RGD:2202 113505 119027 ligandId:4872 HGNC:1033 "ENST00000356660.9|NM_001709.5" +HGNC:1033 BDNF brain derived neurotrophic factor protein-coding gene gene with protein product Approved 11p14.1 11p14.1 neurotrophin Neurotrophins 1585 1991-01-15 2016-06-01 2023-01-20 627 ENSG00000176697 OTTHUMG00000178797 uc001mrz.5 AB038670 NM_170735 "CCDS7866|CCDS7865|CCDS41628|CCDS44558" P23560 "2236018|1889806|17942328|17493809" MGI:88145 RGD:2202 113505 119027 ligandId:4872 HGNC:1033 "ENST00000356660.9|NM_001709.5" HGNC:20608 BDNF-AS BDNF antisense RNA non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 "BT2A|BT2B|BT2C|BT2D|NCRNA00049|BDNF-AS1|BDNFAS" "non-protein coding RNA 49|BDNF antisense RNA 1 (non-protein coding)" BDNFOS "BDNF opposite strand (non-protein coding)|BDNF antisense RNA (non-protein coding)" Antisense RNAs 1987 2005-02-01 2012-05-03 2012-08-15 2017-08-09 497258 ENSG00000245573 uc001mrq.5 AY054391 NR_002832 "15666411|22446693|28777258" 611468 BDNF-AS HGNC:20608 HGNC:13652 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "TFIIIB150|TFC5|TFIIIB90|KIAA1689|HSA238520|KIAA1241" "TFNR|TAF3B1" TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1 "Myb/SANT domain containing|General transcription factor IIIB complex subunits " "532|1879" 2000-09-27 2001-11-30 2001-11-29 2023-01-20 55814 ENSG00000145734 OTTHUMG00000162506 uc003kbp.2 AF298151 NM_018429 CCDS43328 A6H8Y1 "11214970|11040218" MGI:1347077 RGD:1308512 607012 469986 HGNC:13652 "ENST00000358731.9|NM_018429.3" HGNC:13652 HGNC:31044 BDP1P B double prime 1 pseudogene pseudogene pseudogene Approved 18q23 18q23 2008-01-31 2014-10-03 724038 ENSG00000264736 OTTHUMG00000179339 NG_005602 HGNC:31044 -HGNC:24160 BEAN1 brain expressed associated with NEDD4 1 protein-coding gene gene with protein product Approved 16q21 16q21 SCA31 spinocerebellar ataxia 31 2010-10-05 2017-02-22 2023-03-15 146227 ENSG00000166546 OTTHUMG00000173370 uc021tjl.2 BC000818 NM_001136106 "CCDS54015|CCDS58469" Q3B7T3 "11042109|8619474|23607545" MGI:1929597 RGD:1562003 612051 326090 HGNC:24160 "ENST00000536005.7|NM_001178020.3" HGNC:24160 +HGNC:24160 BEAN1 brain expressed associated with NEDD4 1 protein-coding gene gene with protein product Approved 16q21 16q21 SCA31 spinocerebellar ataxia 31 2010-10-05 2017-02-22 2023-03-15 146227 ENSG00000166546 OTTHUMG00000173370 uc021tjl.2 BC000818 NM_001136106 "CCDS58469|CCDS54015" Q3B7T3 "11042109|8619474|23607545" MGI:1929597 RGD:1562003 612051 326090 HGNC:24160 "ENST00000536005.7|NM_001178020.3" HGNC:24160 HGNC:51114 BEAN1-AS1 BEAN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q21 16q21 Antisense RNAs 1987 2014-07-30 2014-07-30 101927726 ENSG00000261656 OTTHUMG00000175781 NR_109960 BEAN1-AS1 HGNC:51114 HGNC:1034 BECN1 beclin 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "ATG6|VPS30" ATG6 autophagy related 6 homolog (S. cerevisiae) "beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)|beclin 1, autophagy related" "Autophagy related|PIK3C3 complex subunits|MicroRNA protein coding host genes" "1022|1596|1691" 1998-11-27 2016-04-28 2023-01-20 8678 ENSG00000126581 OTTHUMG00000180653 uc002ibn.3 AF077301 NM_003766 "CCDS11441|CCDS82132" Q14457 9765397 MGI:1891828 RGD:620190 604378 HGNC:1034 "ENST00000590099.6|NM_001313998.2" HGNC:51330 BECN1P2 beclin 1 pseudogene 2 pseudogene pseudogene Approved 6q13 06q13 beclin 1, autophagy related, pseudogene 2 2014-10-03 2016-04-28 2016-04-28 100420149 ENSG00000219669 OTTHUMG00000014998 NG_025950 PGOHUM00000301842 HGNC:51330 @@ -2357,17 +2357,17 @@ HGNC:45015 BEND3P2 BEN domain containing 3 pseudogene 2 pseudogene pseudogene Ap HGNC:45016 BEND3P3 BEN domain containing 3 pseudogene 3 pseudogene pseudogene Approved 10q22.3 10q22.3 2013-01-08 2014-10-03 650623 ENSG00000278616 OTTHUMG00000187848 NR_027512 PGOHUM00000290215 HGNC:45016 HGNC:23815 BEND4 BEN domain containing 4 protein-coding gene gene with protein product Approved 4p13 04p13 "FLJ35632|FLJ43965" CCDC4 coiled-coil domain containing 4 BEN domain containing 422 2005-06-22 2008-10-03 2008-10-03 2023-01-20 389206 ENSG00000188848 OTTHUMG00000160531 uc003gwn.4 AK092951 NM_207406 CCDS47048 Q6ZU67 MGI:3648414 RGD:1584735 HGNC:23815 "ENST00000502486.6|NM_207406.4" HGNC:25668 BEND5 BEN domain containing 5 protein-coding gene gene with protein product Approved 1p33 01p33 FLJ11588 C1orf165 chromosome 1 open reading frame 165 BEN domain containing 422 2005-07-19 2008-10-03 2008-10-03 2023-01-20 79656 ENSG00000162373 OTTHUMG00000008153 uc001crx.5 BC007932 NM_024603 CCDS552 Q7L4P6 23468431 MGI:1914871 RGD:1584958 HGNC:25668 "ENST00000371833.4|NM_024603.4" -HGNC:20871 BEND6 BEN domain containing 6 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "FLJ30162|bA203B9.1" C6orf65 chromosome 6 open reading frame 65 BEN domain containing 422 2003-05-07 2008-10-03 2008-10-03 2023-01-20 221336 ENSG00000151917 OTTHUMG00000014914 uc010kab.4 AK054724 NM_152731 "CCDS83102|CCDS43476" Q5SZJ8 MGI:2444572 RGD:1310392 HGNC:20871 "ENST00000370746.8|NM_152731.3" -HGNC:23514 BEND7 BEN domain containing 7 protein-coding gene gene with protein product Approved 10p13 10p13 FLJ40283 C10orf30 chromosome 10 open reading frame 30 BEN domain containing 422 2003-11-21 2008-10-03 2008-10-03 2023-01-20 222389 ENSG00000165626 OTTHUMG00000017699 uc001imm.3 BC031618 NM_152751 "CCDS7099|CCDS91214|CCDS41490" Q8N7W2 MGI:2443100 RGD:1305898 HGNC:23514 "ENST00000466271.3|NM_001369863.1" +HGNC:20871 BEND6 BEN domain containing 6 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "FLJ30162|bA203B9.1" C6orf65 chromosome 6 open reading frame 65 BEN domain containing 422 2003-05-07 2008-10-03 2008-10-03 2023-01-20 221336 ENSG00000151917 OTTHUMG00000014914 uc010kab.4 AK054724 NM_152731 "CCDS43476|CCDS83102" Q5SZJ8 MGI:2444572 RGD:1310392 HGNC:20871 "ENST00000370746.8|NM_152731.3" +HGNC:23514 BEND7 BEN domain containing 7 protein-coding gene gene with protein product Approved 10p13 10p13 FLJ40283 C10orf30 chromosome 10 open reading frame 30 BEN domain containing 422 2003-11-21 2008-10-03 2008-10-03 2023-01-20 222389 ENSG00000165626 OTTHUMG00000017699 uc001imm.3 BC031618 NM_152751 "CCDS41490|CCDS7099|CCDS91214" Q8N7W2 MGI:2443100 RGD:1305898 HGNC:23514 "ENST00000466271.3|NM_001369863.1" HGNC:55819 BEND7-DT BEND7 divergent transcript non-coding RNA RNA, long non-coding Approved 10p13 10p13 Divergent transcripts 1990 2021-07-30 2021-07-30 105376421 ENSG00000227175 XR_930674 HGNC:51362 BEND7P1 BEN domain containing 7 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2014-10-15 2014-10-15 100419793 ENSG00000230320 OTTHUMG00000022058 NG_026866 PGOHUM00000305221 HGNC:51362 -HGNC:12703 BEST1 bestrophin 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "BMD|BEST|RP50" Best disease VMD2 vitelliform macular dystrophy 2 Bestrophins 866 1992-11-25 2006-10-18 2006-10-18 2023-01-20 7439 ENSG00000167995 OTTHUMG00000167469 uc001nss.4 AF057170 NM_004183 "CCDS86208|CCDS31580|CCDS44623" O76090 "1302019|17003041" MGI:1346332 RGD:1311656 VMD2 Mutation Database @ Institute of Human Genetics, University of Regensburg|http://www-huge.uni-regensburg.de/BEST1_database/home.php 607854 119029 HGNC:12703 "ENST00000378043.9|NM_004183.4" HGNC:12703 +HGNC:12703 BEST1 bestrophin 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "BMD|BEST|RP50" Best disease VMD2 vitelliform macular dystrophy 2 Bestrophins 866 1992-11-25 2006-10-18 2006-10-18 2023-01-20 7439 ENSG00000167995 OTTHUMG00000167469 uc001nss.4 AF057170 NM_004183 "CCDS44623|CCDS31580|CCDS86208" O76090 "1302019|17003041" MGI:1346332 RGD:1311656 VMD2 Mutation Database @ Institute of Human Genetics, University of Regensburg|http://www-huge.uni-regensburg.de/BEST1_database/home.php 607854 119029 HGNC:12703 "ENST00000378043.9|NM_004183.4" HGNC:12703 HGNC:17107 BEST2 bestrophin 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 FLJ20132 VMD2L1 vitelliform macular dystrophy 2-like 1 Bestrophins 866 2003-12-03 2006-10-18 2006-10-18 2023-01-20 54831 ENSG00000039987 OTTHUMG00000169293 uc060ucm.1 AF440756 NM_017682 CCDS42506 Q8NFU1 "12032738|16912113" MGI:2387588 RGD:1305377 607335 HGNC:17107 "ENST00000553030.6|NM_017682.3" -HGNC:17105 BEST3 bestrophin 3 protein-coding gene gene with protein product Approved 12q15 12q15 "MGC40411|MGC13168" VMD2L3 vitelliform macular dystrophy 2-like 3 Bestrophins 866 2003-12-03 2006-10-18 2006-10-18 2023-01-20 144453 ENSG00000127325 OTTHUMG00000149919 uc001svg.3 AF440758 NM_152439 "CCDS73496|CCDS8992|CCDS61193|CCDS41810|CCDS61192" Q8N1M1 12032738 MGI:3580298 RGD:1305439 607337 ligandId:5377 HGNC:17105 "ENST00000330891.10|NM_032735.3" +HGNC:17105 BEST3 bestrophin 3 protein-coding gene gene with protein product Approved 12q15 12q15 "MGC40411|MGC13168" VMD2L3 vitelliform macular dystrophy 2-like 3 Bestrophins 866 2003-12-03 2006-10-18 2006-10-18 2023-01-20 144453 ENSG00000127325 OTTHUMG00000149919 uc001svg.3 AF440758 NM_152439 "CCDS73496|CCDS61192|CCDS41810|CCDS8992|CCDS61193" Q8N1M1 12032738 MGI:3580298 RGD:1305439 607337 ligandId:5377 HGNC:17105 "ENST00000330891.10|NM_032735.3" HGNC:17106 BEST4 bestrophin 4 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 VMD2L2 vitelliform macular dystrophy 2-like 2 Bestrophins 866 2003-12-03 2006-10-18 2006-10-18 2023-01-20 266675 ENSG00000142959 OTTHUMG00000008488 uc001cmm.4 AF440757 NM_153274 CCDS514 Q8NFU0 "12032738|16702355" RGD:1596200 607336 HGNC:17106 "ENST00000372207.4|NM_153274.3" -HGNC:14562 BET1 Bet1 golgi vesicular membrane trafficking protein protein-coding gene gene with protein product Approved 7q21.3 07q21.3 hbet1 "Golgi vesicular membrane trafficking protein p18|Bet1p homolog" "Bet1 (S. cerevisiae) homolog|BET1 homolog (S. cerevisiae)|blocked early in transport 1 homolog (S. cerevisiae)" SNAREs 1124 2001-04-05 2013-03-08 2023-01-20 10282 ENSG00000105829 OTTHUMG00000023487 uc003unf.2 AF007551 NM_005868 "CCDS5635|CCDS83203" O15155 "9382863|10449330" MGI:1343104 RGD:2203 605456 HGNC:14562 "ENST00000222547.8|NM_005868.6" +HGNC:14562 BET1 Bet1 golgi vesicular membrane trafficking protein protein-coding gene gene with protein product Approved 7q21.3 07q21.3 hbet1 "Golgi vesicular membrane trafficking protein p18|Bet1p homolog" "Bet1 (S. cerevisiae) homolog|BET1 homolog (S. cerevisiae)|blocked early in transport 1 homolog (S. cerevisiae)" SNAREs 1124 2001-04-05 2013-03-08 2023-01-20 10282 ENSG00000105829 OTTHUMG00000023487 uc003unf.2 AF007551 NM_005868 "CCDS83203|CCDS5635" O15155 "9382863|10449330" MGI:1343104 RGD:2203 605456 HGNC:14562 "ENST00000222547.8|NM_005868.6" HGNC:40690 BET1-AS1 BET1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 Antisense RNAs 1987 2019-07-24 2019-07-24 105375403 ENSG00000236861 OTTHUMG00000155775 HGNC:40690 -HGNC:19348 BET1L Bet1 golgi vesicular membrane trafficking protein like protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "GS15|GOLIM3" golgi integral membrane protein 3 "blocked early in transport 1 homolog (S. cerevisiae) like|blocked early in transport 1 homolog (S. cerevisiae)-like|Bet1 golgi vesicular membrane trafficking protein-like" SNAREs 1124 2002-10-08 2015-11-24 2023-01-20 51272 ENSG00000177951 OTTHUMG00000119071 uc001loe.3 AF234160 NM_016526 "CCDS41582|CCDS7689" Q9NYM9 "9242691|15004235" MGI:1913128 RGD:71051 615417 HGNC:19348 "ENST00000382762.8|NM_001098787.2" +HGNC:19348 BET1L Bet1 golgi vesicular membrane trafficking protein like protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "GS15|GOLIM3" golgi integral membrane protein 3 "blocked early in transport 1 homolog (S. cerevisiae) like|blocked early in transport 1 homolog (S. cerevisiae)-like|Bet1 golgi vesicular membrane trafficking protein-like" SNAREs 1124 2002-10-08 2015-11-24 2023-01-20 51272 ENSG00000177951 OTTHUMG00000119071 uc001loe.3 AF234160 NM_016526 "CCDS7689|CCDS41582" Q9NYM9 "9242691|15004235" MGI:1913128 RGD:71051 615417 HGNC:19348 "ENST00000382762.8|NM_001098787.2" HGNC:51363 BET1P1 Bet1 golgi vesicular membrane trafficking protein pseudogene 1 pseudogene pseudogene Approved 7q36.1 07q36.1 2014-10-15 2014-10-15 100128542 ENSG00000241134 OTTHUMG00000157576 NG_031907 PGOHUM00000303026 HGNC:51363 HGNC:51391 BETALINC1 Beta cell long intergenic noncoding RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.22 20p11.22 HI-LNC15 Human Islet Long Non Coding RNA 15 Long non-coding RNAs with non-systematic symbols 1992 2022-10-06 2022-10-06 124904961 ENSG00000233492 XR_007067726 "23040067|26944677" HGNC:1036 BEX1 brain expressed X-linked 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 Brain expressed X-linked family 1217 2000-03-22 2015-11-11 2023-01-20 55859 ENSG00000133169 OTTHUMG00000022708 uc004ejt.2 NM_018476 CCDS35354 Q9HBH7 16221301 "MGI:1338017|MGI:1328321" RGD:1564466 300690 HGNC:1036 "ENST00000372728.4|NM_018476.4" @@ -2375,7 +2375,7 @@ HGNC:30933 BEX2 brain expressed X-linked 2 protein-coding gene gene with protein HGNC:13388 BEX3 brain expressed X-linked 3 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "HGR74|Bex|NADE|DXS6984E" NGFRAP1 nerve growth factor receptor (TNFRSF16) associated protein 1 Brain expressed X-linked family 1217 2001-09-19 2016-02-15 2016-02-15 2023-01-20 27018 ENSG00000166681 OTTHUMG00000022099 uc004eki.5 AF187064 NM_014380 "CCDS14508|CCDS14509" Q00994 "10764727|16221301|2171551" MGI:1338016 RGD:3148 300361 HGNC:13388 "ENST00000361298.9|NM_206917.3" HGNC:25475 BEX4 brain expressed X-linked 4 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 FLJ10097 BEXL1 "brain expressed X-linked-like 1|BEX family member 4" Brain expressed X-linked family 1217 2004-03-24 2007-08-24 2015-11-11 2023-01-20 56271 ENSG00000102409 OTTHUMG00000022091 uc004ejv.5 AL035494 NM_001080425 CCDS35355 Q9NWD9 "15958283|16221301" MGI:3606746 RGD:1564749 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BEX4 300692 HGNC:25475 "ENST00000372695.6|NM_001080425.4" HGNC:27990 BEX5 brain expressed X-linked 5 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 NGFRAP1L1 "NGFRAP1-like 1|BEX family member 5" Brain expressed X-linked family 1217 2005-01-26 2007-08-24 2015-11-11 2023-01-20 340542 ENSG00000184515 OTTHUMG00000022049 uc004eir.4 BC042818 NM_001159560 CCDS35350 Q5H9J7 16221301 RGD:6488322 300693 HGNC:27990 "ENST00000333643.4|NM_001012978.3" -HGNC:17613 BFAR bifunctional apoptosis regulator protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "BAR|RNF47" "Ring finger proteins|Sterile alpha motif domain containing" "58|760" 2002-05-29 2023-01-20 51283 ENSG00000103429 OTTHUMG00000129848 uc002dco.4 AF173003 NM_016561 "CCDS10554|CCDS81947" Q9NZS9 10716992 MGI:1914368 RGD:1304791 619516 HGNC:17613 "ENST00000261658.7|NM_016561.3" +HGNC:17613 BFAR bifunctional apoptosis regulator protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "BAR|RNF47" "Ring finger proteins|Sterile alpha motif domain containing" "58|760" 2002-05-29 2023-01-20 51283 ENSG00000103429 OTTHUMG00000129848 uc002dco.4 AF173003 NM_016561 "CCDS81947|CCDS10554" Q9NZS9 10716992 MGI:1914368 RGD:1304791 619516 HGNC:17613 "ENST00000261658.7|NM_016561.3" HGNC:1040 BFSP1 beaded filament structural protein 1 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "CP94|CP115|LIFL-H|filensin" beaded filament structural protein 1, filensin Beaded filament structural proteins 613 1998-07-23 2015-12-07 2023-01-20 631 ENSG00000125864 OTTHUMG00000031940 uc002wpo.4 Y16717 NM_001195 "CCDS63229|CCDS13126|CCDS54448" Q12934 9787085 MGI:101770 RGD:2205 603307 160055 HGNC:1040 "ENST00000377873.8|NM_001195.5" HGNC:1040 HGNC:1041 BFSP2 beaded filament structural protein 2 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "CP47|CP49|LIFL-L|phakinin" beaded filament structural protein 2, phakinin Beaded filament structural proteins 613 1999-04-14 2015-12-15 2023-01-20 8419 ENSG00000170819 OTTHUMG00000159719 uc003epn.3 U48224 NM_003571 CCDS33859 Q13515 MGI:1333828 RGD:1591927 Human Intermediate Filament Mutation Database|http://www.interfil.org/ 603212 119034 HGNC:1041 "ENST00000302334.3|NM_003571.4" HGNC:1041 HGNC:28425 BFSP2-AS1 BFSP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q22.1 03q22.1 MGC2848 Antisense RNAs 1987 2013-09-02 2013-09-02 85003 ENSG00000249993 OTTHUMG00000159721 NR_135276 12477932 BFSP2-AS1 HGNC:28425 @@ -2393,32 +2393,32 @@ HGNC:16617 BHLHE41 basic helix-loop-helix family member e41 protein-coding gene HGNC:1047 BHMT betaine--homocysteine S-methyltransferase protein-coding gene gene with protein product Approved 5q14.1 05q14.1 BHMT1 betaine homocysteine methyltransferase Homocysteine methyltransferases 2065 1997-06-09 2010-04-28 2023-01-20 635 ENSG00000145692 OTTHUMG00000108157 uc003kfu.5 BC012616 NM_001713 CCDS4046 Q93088 "8798461|9281325" MGI:1339972 RGD:621496 602888 469994 2.1.1.5 HGNC:1047 "ENST00000274353.10|NM_001713.3" HGNC:1048 BHMT2 betaine--homocysteine S-methyltransferase 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 Homocysteine methyltransferases 2065 1999-08-27 2010-04-28 2023-01-20 23743 ENSG00000132840 OTTHUMG00000108158 uc003kft.4 NM_017614 "CCDS4045|CCDS54871" Q9H2M3 "11087663|18230605" MGI:1891379 RGD:1359418 605932 2.1.1.5 HGNC:1048 "ENST00000255192.8|NM_017614.5" HGNC:19351 BICC1 BicC family RNA binding protein 1 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 bicaudal C homolog 1 (Drosophila) Sterile alpha motif domain containing 760 2002-10-08 2014-02-03 2023-01-20 80114 ENSG00000122870 OTTHUMG00000018271 uc001jki.2 AK026129 NM_025044 CCDS31206 Q9H694 21922595 MGI:1933388 RGD:1307459 LRG_853|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_853.xml 614295 292175 HGNC:19351 "ENST00000373886.8|NM_001080512.3" HGNC:19351 -HGNC:1049 BICD1 BICD cargo adaptor 1 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "Bicaudal D (Drosophila) homolog 1|bicaudal D homolog 1 (Drosophila)" 1997-03-19 2016-03-29 2023-01-20 636 ENSG00000151746 OTTHUMG00000169307 uc001rku.4 U90028 NM_001714 "CCDS8726|CCDS86290|CCDS44859" Q96G01 9367685 MGI:1101760 RGD:1309444 602204 469996 HGNC:1049 "ENST00000652176.1|NM_001714.4" -HGNC:55475 BICD1-AS1 BICD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 Antisense RNAs 1987 2021-03-11 2021-03-11 120766143 ENSG00000257530 +HGNC:1049 BICD1 BICD cargo adaptor 1 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "Bicaudal D (Drosophila) homolog 1|bicaudal D homolog 1 (Drosophila)" 1997-03-19 2016-03-29 2023-01-20 636 ENSG00000151746 OTTHUMG00000169307 uc001rku.4 U90028 NM_001714 "CCDS8726|CCDS44859|CCDS86290" Q96G01 9367685 MGI:1101760 RGD:1309444 602204 469996 HGNC:1049 "ENST00000652176.1|NM_001714.4" +HGNC:55475 BICD1-AS1 BICD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 Antisense RNAs 1987 2021-03-11 2021-03-11 120766143 ENSG00000257530 NR_185992 HGNC:51374 BICD1P1 BICD cargo adaptor 1 pseudogene 1 pseudogene pseudogene Approved 2q33.1 02q33.1 bicaudal D homolog 1 (Drosophila) pseudogene 1 2014-10-16 2016-06-06 2016-06-06 391472 ENSG00000224346 OTTHUMG00000154576 NG_021598 PGOHUM00000298829 HGNC:51374 -HGNC:17208 BICD2 BICD cargo adaptor 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 KIAA0699 bicaudal D homolog 2 (Drosophila) 2003-11-14 2016-03-29 2023-01-20 23299 ENSG00000185963 OTTHUMG00000021036 uc004aso.2 AB014599 NM_015250 "CCDS35064|CCDS6700" Q8TD16 9734811 MGI:1924145 RGD:735093 609797 365105 HGNC:17208 "ENST00000356884.11|NM_001003800.2" HGNC:17208 -HGNC:28095 BICDL1 BICD family like cargo adaptor 1 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "FLJ26450|BICDR-1" Bicaudal D related 1 CCDC64 coiled-coil domain containing 64 2006-01-24 2016-05-03 2016-05-03 2023-01-20 92558 ENSG00000135127 OTTHUMG00000169311 uc001txl.2 "U88834|AK129960" NM_207311 "CCDS91757|CCDS41845" Q6ZP65 "20360680|26822037" MGI:1922915 RGD:1310292 617002 HGNC:28095 "ENST00000548673.6|NM_001367886.1" +HGNC:17208 BICD2 BICD cargo adaptor 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 KIAA0699 bicaudal D homolog 2 (Drosophila) 2003-11-14 2016-03-29 2023-01-20 23299 ENSG00000185963 OTTHUMG00000021036 uc004aso.2 AB014599 NM_015250 "CCDS6700|CCDS35064" Q8TD16 9734811 MGI:1924145 RGD:735093 609797 365105 HGNC:17208 "ENST00000356884.11|NM_001003800.2" HGNC:17208 +HGNC:28095 BICDL1 BICD family like cargo adaptor 1 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "FLJ26450|BICDR-1" Bicaudal D related 1 CCDC64 coiled-coil domain containing 64 2006-01-24 2016-05-03 2016-05-03 2023-01-20 92558 ENSG00000135127 OTTHUMG00000169311 uc001txl.2 "U88834|AK129960" NM_207311 "CCDS41845|CCDS91757" Q6ZP65 "20360680|26822037" MGI:1922915 RGD:1310292 617002 HGNC:28095 "ENST00000548673.6|NM_001367886.1" HGNC:33584 BICDL2 BICD family like cargo adaptor 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 CCDC64B coiled-coil domain containing 64B 2007-08-06 2016-05-03 2016-05-03 2023-01-20 146439 ENSG00000162069 OTTHUMG00000177452 uc059ptp.1 BC128602 NM_001103175 CCDS45393 A1A5D9 MGI:2388267 RGD:1306729 617003 HGNC:33584 "ENST00000572449.6|NM_001369667.1" HGNC:18289 BICDL3P BICD family like 3, pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 NCRNA00035 non-protein coding RNA 35 "WBSCR26|LINC00035|ABHD11-AS1" "Williams Beuren syndrome chromosome region 26|Williams Beuren syndrome chromosome region 26 (non-protein coding)|long intergenic non-protein coding RNA 35|ABHD11 antisense RNA 1 (tail to tail)" 2002-03-05 2022-06-16 2022-06-16 2022-06-16 171022 ENSG00000225969 OTTHUMG00000153263 BU595969 NR_026690 "24984296|25619660|28157695" RGD:1585479 612545 ABHD11-AS1 HGNC:18289 HGNC:4332 BICRA BRD4 interacting chromatin remodeling complex associated protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 SMARCK1 GLTSCR1 glioma tumor suppressor candidate region gene 1 GBAF complex 1606 2000-02-29 2017-03-21 2017-04-21 2023-01-20 29998 ENSG00000063169 OTTHUMG00000183263 uc002phh.4 AF182077 NM_015711 CCDS46134 Q9NZM4 "10708517|21555454" MGI:2154263 RGD:1306385 605690 HGNC:4332 "ENST00000594866.3|NM_001394372.1" HGNC:51588 BICRA-AS1 BICRA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 GLTSCR1-AS1 GLTSCR1 antisense RNA 1 Antisense RNAs 1987 2015-03-11 2017-03-21 2017-03-21 2017-03-21 106144534 ENSG00000269806 OTTHUMG00000183264 DB210983 HGNC:56742 BICRA-AS2 BICRA antisense RNA 2 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 AC010331.1 Antisense RNAs 1987 2023-02-06 2023-02-06 128667229 ENSG00000277383 33869042 HGNC:21111 BICRAL BICRA like chromatin remodeling complex associated protein protein-coding gene gene with protein product Approved 6p21.1 06p21.1 SMARCK2 "KIAA0240|GLTSCR1L" "KIAA0240|GLTSCR1-like|GLTSCR1 like|BRD4 interacting chromatin remodeling complex associated protein like" GBAF complex 1606 2003-11-21 2017-03-21 2021-07-08 2023-01-20 23506 ENSG00000112624 OTTHUMG00000014706 uc063onx.1 AL833540 NM_015349 CCDS34451 Q6AI39 29374058 MGI:2673855 RGD:1305680 618502 HGNC:21111 "ENST00000314073.10|NM_001393499.1" -HGNC:1050 BID BH3 interacting domain death agonist protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "Receptor ligands|BCL2 homology region 3 (BH3) only|MicroRNA protein coding host genes" "542|1277|1691" 1998-04-20 2023-01-20 637 ENSG00000015475 OTTHUMG00000150087 uc002znd.3 AF042083 NM_197966 "CCDS13748|CCDS13747|CCDS13749" P55957 "8918887|9721221" MGI:108093 RGD:620160 601997 ligandId:5152 HGNC:1050 "ENST00000622694.5|NM_001196.4" +HGNC:1050 BID BH3 interacting domain death agonist protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "Receptor ligands|BCL2 homology region 3 (BH3) only|MicroRNA protein coding host genes" "542|1277|1691" 1998-04-20 2023-01-20 637 ENSG00000015475 OTTHUMG00000150087 uc002znd.3 AF042083 NM_197966 "CCDS13749|CCDS13748|CCDS13747" P55957 "8918887|9721221" MGI:108093 RGD:620160 601997 ligandId:5152 HGNC:1050 "ENST00000622694.5|NM_001196.4" HGNC:1051 BIK BCL2 interacting killer protein-coding gene gene with protein product Approved 22q13.2 22q13.2 NBK natural born killer BCL2-interacting killer (apoptosis-inducing) BCL2 homology region 3 (BH3) only 1277 1996-10-26 2016-04-26 2023-01-20 638 ENSG00000100290 OTTHUMG00000150703 uc003bdk.3 U34584 NM_001197 CCDS14044 Q13323 "7478623|10591208" MGI:1206591 RGD:621547 603392 HGNC:1051 "ENST00000216115.3|NM_001197.5" -HGNC:1052 BIN1 bridging integrator 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "SH3P9|AMPH2" "amphiphysin II|amphiphysin 2|Myc box-dependent-interacting protein 1" AMPHL N-BAR domain containing 1289 2000-05-19 2023-04-21 274 ENSG00000136717 OTTHUMG00000131465 uc002tns.3 U68485 NM_139343 "CCDS2143|CCDS2140|CCDS2137|CCDS2142|CCDS46403|CCDS42743|CCDS2138|CCDS2141|CCDS82508|CCDS42744|CCDS2139" O00499 "8725406|8782822|17676042" MGI:108092 RGD:621786 LRG_873|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_873.xml 601248 139150 HGNC:1052 "ENST00000316724.10|NM_139343.3" HGNC:1052 -HGNC:1053 BIN2 bridging integrator 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 BRAP-1 N-BAR domain containing 1289 2000-05-25 2023-01-20 51411 ENSG00000110934 OTTHUMG00000185197 uc001ryg.4 AF146531 NM_001290007 "CCDS91696|CCDS8811|CCDS76561" Q9UBW5 10903846 MGI:3611448 RGD:1306789 605936 HGNC:1053 "ENST00000615107.6|NM_016293.4" +HGNC:1052 BIN1 bridging integrator 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "SH3P9|AMPH2" "amphiphysin II|amphiphysin 2|Myc box-dependent-interacting protein 1" AMPHL N-BAR domain containing 1289 2000-05-19 2023-04-21 274 ENSG00000136717 OTTHUMG00000131465 uc002tns.3 U68485 NM_139343 "CCDS42743|CCDS2138|CCDS2143|CCDS82508|CCDS2137|CCDS2142|CCDS2141|CCDS2140|CCDS42744|CCDS2139|CCDS46403" O00499 "8725406|8782822|17676042" MGI:108092 RGD:621786 LRG_873|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_873.xml 601248 139150 HGNC:1052 "ENST00000316724.10|NM_139343.3" HGNC:1052 +HGNC:1053 BIN2 bridging integrator 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 BRAP-1 N-BAR domain containing 1289 2000-05-25 2023-01-20 51411 ENSG00000110934 OTTHUMG00000185197 uc001ryg.4 AF146531 NM_001290007 "CCDS91696|CCDS76561|CCDS8811" Q9UBW5 10903846 MGI:3611448 RGD:1306789 605936 HGNC:1053 "ENST00000615107.6|NM_016293.4" HGNC:43660 BIN2P1 bridging integrator 2 pseudogene 1 pseudogene pseudogene Approved 4q21.22 04q21.22 2012-01-23 2012-01-23 2014-02-12 345258 ENSG00000234568 OTTHUMG00000160953 NG_022065 PGOHUM00000245980 HGNC:43660 HGNC:43661 BIN2P2 bridging integrator 2 pseudogene 2 pseudogene pseudogene Approved 5q13.3 05q13.3 2012-01-23 2012-01-23 2016-07-22 644601 ENSG00000248684 OTTHUMG00000162507 NG_021885 PGOHUM00000301016 HGNC:43661 HGNC:1054 BIN3 bridging integrator 3 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 N-BAR domain containing 1289 2000-05-25 2023-01-20 55909 ENSG00000147439 OTTHUMG00000163844 uc003xcl.5 NM_001363046 "CCDS87587|CCDS47825" Q9NQY0 16524918 MGI:1929883 RGD:1308253 606396 HGNC:1054 "ENST00000276416.11|NM_018688.6" HGNC:25868 BIN3-IT1 BIN3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 FLJ14107 BIN3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2013-06-07 2015-02-25 2016-11-24 80094 "AK024169|DN996902" NR_027715 12477932 HGNC:25868 HGNC:590 BIRC2 baculoviral IAP repeat containing 2 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 "cIAP1|hiap-2|MIHB|RNF48|c-IAP1" "NFR2-TRAF signalling complex protein|apoptosis inhibitor 1" API1 baculoviral IAP repeat-containing 2 "Ring finger proteins|Baculoviral IAP repeat containing|Caspase recruitment domain containing" "58|419|959" 1998-06-10 2011-01-25 2023-01-20 329 ENSG00000110330 OTTHUMG00000167325 uc001pgy.5 L49431 NM_001166 "CCDS58169|CCDS8316" Q13490 "8552191|8548810" MGI:1197009 RGD:620690 601712 objectId:2791 HGNC:590 "ENST00000227758.7|NM_001166.5" HGNC:591 BIRC3 baculoviral IAP repeat containing 3 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 "cIAP2|hiap-1|MIHC|RNF49|MALT2|c-IAP2" "apoptosis inhibitor 2|TNFR2-TRAF signaling complex protein|mammalian IAP homolog C|inhibitor of apoptosis protein 1" API2 baculoviral IAP repeat-containing 3 "Ring finger proteins|Baculoviral IAP repeat containing|Caspase recruitment domain containing" "58|419|959" 1998-06-10 2011-01-25 2023-01-20 330 ENSG00000023445 OTTHUMG00000167324 uc058guu.1 L49432 NM_001165 CCDS8315 Q13489 "8552191|8548810" MGI:1197007 RGD:621282 LRG_1423|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1423.xml BIRC3 601721 201152 I32.003 objectId:2792 HGNC:591 "ENST00000263464.9|NM_001165.5" -HGNC:593 BIRC5 baculoviral IAP repeat containing 5 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "EPR-1|survivin" API4 "apoptosis inhibitor 4|baculoviral IAP repeat-containing 5" "Baculoviral IAP repeat containing|Chromosomal passenger complex" "419|1338" 1998-06-10 2011-01-25 2023-01-20 332 ENSG00000089685 OTTHUMG00000177505 uc002jvg.4 U75285 NM_001168 "CCDS32751|CCDS32752|CCDS11755" O15392 "8106347|7947793" MGI:1203517 RGD:70499 603352 469998 I32.005 objectId:2795 HGNC:593 "ENST00000350051.8|NM_001168.3" +HGNC:593 BIRC5 baculoviral IAP repeat containing 5 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "EPR-1|survivin" API4 "apoptosis inhibitor 4|baculoviral IAP repeat-containing 5" "Baculoviral IAP repeat containing|Chromosomal passenger complex" "419|1338" 1998-06-10 2011-01-25 2023-01-20 332 ENSG00000089685 OTTHUMG00000177505 uc002jvg.4 U75285 NM_001168 "CCDS11755|CCDS32751|CCDS32752" O15392 "8106347|7947793" MGI:1203517 RGD:70499 603352 469998 I32.005 objectId:2795 HGNC:593 "ENST00000350051.8|NM_001168.3" HGNC:13516 BIRC6 baculoviral IAP repeat containing 6 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 BRUCE apollon baculoviral IAP repeat-containing 6 "Ubiquitin conjugating enzymes E2|Baculoviral IAP repeat containing|MicroRNA protein coding host genes" "102|419|1691" 2000-09-19 2011-01-25 2023-01-20 57448 ENSG00000115760 OTTHUMG00000150528 uc010ezu.4 AF265555 NM_016252 CCDS33175 Q9NR09 10544019 MGI:1276108 RGD:1307247 605638 I32.006 objectId:2796 HGNC:13516 "ENST00000421745.7|NM_016252.4" HGNC:40641 BIRC6-AS1 BIRC6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 BIRC6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2014-11-19 100874009 ENSG00000230046 OTTHUMG00000152106 uc061hxx.1 22196729 BIRC6-AS1 HGNC:50490 BIRC6-AS2 BIRC6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 megamind Antisense RNAs 1987 2014-05-05 2018-08-15 103752586 ENSG00000279897 OTTHUMG00000189406 "AA883483|BX093813" NR_125793 22196729 megamind HGNC:50490 -HGNC:13702 BIRC7 baculoviral IAP repeat containing 7 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "mliap|ML-IAP|KIAP|RNF50" "melanoma inhibitor of apoptosis protein|kidney inhibitor of apoptosis protein|livin inhibitor-of-apoptosis|livin" baculoviral IAP repeat-containing 7 "Ring finger proteins|Baculoviral IAP repeat containing|MicroRNA protein coding host genes" "58|419|1691" 2001-03-06 2011-01-25 2023-01-20 79444 ENSG00000101197 OTTHUMG00000032957 uc002yej.4 AF301009 NM_139317 "CCDS13512|CCDS13513" Q96CA5 "11024045|11162435" MGI:2676458 RGD:1562883 605737 I32.007 objectId:2794 HGNC:13702 "ENST00000217169.8|NM_139317.3" +HGNC:13702 BIRC7 baculoviral IAP repeat containing 7 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "mliap|ML-IAP|KIAP|RNF50" "melanoma inhibitor of apoptosis protein|kidney inhibitor of apoptosis protein|livin inhibitor-of-apoptosis|livin" baculoviral IAP repeat-containing 7 "Ring finger proteins|Baculoviral IAP repeat containing|MicroRNA protein coding host genes" "58|419|1691" 2001-03-06 2011-01-25 2023-01-20 79444 ENSG00000101197 OTTHUMG00000032957 uc002yej.4 AF301009 NM_139317 "CCDS13513|CCDS13512" Q96CA5 "11024045|11162435" MGI:2676458 RGD:1562883 605737 I32.007 objectId:2794 HGNC:13702 "ENST00000217169.8|NM_139317.3" HGNC:14878 BIRC8 baculoviral IAP repeat containing 8 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ILP-2|hILP2|RNF136" "IAP-like protein 2|inhibitor of apoptosis-like protein 2" baculoviral IAP repeat-containing 8 "Ring finger proteins|Baculoviral IAP repeat containing" "58|419" 2001-08-23 2011-01-25 2023-03-15 112401 ENSG00000163098 OTTHUMG00000182919 uc002qbk.4 AF164682 NR_159880 Q96P09 11390657 MGI:107572 I32.008 objectId:2797 HGNC:14878 HGNC:51290 BISPR BST2 interferon stimulated positive regulator non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 lncBST2 BST2 interferon stimulated positive regulator (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2015-02-04 2018-05-16 2022-07-11 105221694 ENSG00000282851 OTTHUMG00000182856 NR_130765 "25620967|29856242" BISPR HGNC:51290 HGNC:16034 BIVM basic, immunoglobulin-like variable motif containing protein-coding gene gene with protein product Approved 13q33.1 13q33.1 FLJ20159 2001-08-16 2023-01-20 54841 ENSG00000134897 OTTHUMG00000017309 uc001vps.4 AF411385 NM_001159596 "CCDS9505|CCDS53879" Q86UB2 12036287 MGI:2179809 RGD:1311888 619006 HGNC:16034 "ENST00000257336.6|NM_017693.4" @@ -2430,38 +2430,38 @@ HGNC:33495 BLID BH3-like motif containing, cell death inducer protein-coding gen HGNC:1057 BLK BLK proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 8p23.1 08p23.1 MGC10442 B lymphoid tyrosine kinase "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1995-05-17 2014-06-25 2023-01-20 640 ENSG00000136573 OTTHUMG00000090729 uc003wty.4 BC004473 NM_001330465 "CCDS83251|CCDS5982" P51451 7845672 MGI:88169 RGD:1308859 191305 227384 objectId:1940 HGNC:1057 "ENST00000259089.9|NM_001715.3" HGNC:1057 HGNC:1058 BLM BLM RecQ like helicase protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "BS|RECQL3|RECQ2" "Bloom syndrome|Bloom syndrome RecQ like helicase" RecQ like helicases 1049 1992-11-06 2018-08-08 2023-01-20 641 ENSG00000197299 OTTHUMG00000149834 uc002bpr.5 U39817 NM_000057 "CCDS10363|CCDS73782" P54132 9388193 MGI:1328362 RGD:1308810 "BLMbase: Mutation registry for Bloom Syndrome|http://structure.bmc.lu.se/idbase/BLMbase/|LRG_20|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_20.xml" BLM 604610 123406 HGNC:1058 "ENST00000355112.8|NM_000057.4" HGNC:1058 HGNC:1059 BLMH bleomycin hydrolase protein-coding gene gene with protein product Approved 17q11.2 17q11.2 BH Peptidase family C1 2109 1998-03-11 2023-01-20 642 ENSG00000108578 OTTHUMG00000179756 uc002hez.3 X92106 NM_000386 CCDS32604 Q13867 "9407121|9331073" MGI:1345186 RGD:1304668 602403 365648 C01.084 3.4.22.40 HGNC:1059 "ENST00000261714.11|NM_000386.4" -HGNC:14211 BLNK B cell linker protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "SLP65|Ly57|SLP-65|BLNK-s|BASH|bca" "B-cell adapter containing a SH2 domain protein|B-cell activation|Src homology [SH2] domain-containing leukocyte protein of 65 kD|B cell adaptor containing SH2 domain" SH2 domain containing 741 2001-07-16 2017-12-06 2023-01-20 29760 ENSG00000095585 OTTHUMG00000018827 uc001kls.5 AF068180 NM_013314 "CCDS7446|CCDS73171|CCDS58091|CCDS91311|CCDS44464" Q8WV28 "9697839|10583958" MGI:96878 RGD:1561933 "BLNKbase: Mutation registry for BLNK deficiency|http://structure.bmc.lu.se/idbase/BLNKbase/|LRG_21|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_21.xml" 604515 236971 HGNC:14211 "ENST00000224337.10|NM_013314.4" HGNC:14211 +HGNC:14211 BLNK B cell linker protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "SLP65|Ly57|SLP-65|BLNK-s|BASH|bca" "B-cell adapter containing a SH2 domain protein|B-cell activation|Src homology [SH2] domain-containing leukocyte protein of 65 kD|B cell adaptor containing SH2 domain" SH2 domain containing 741 2001-07-16 2017-12-06 2023-01-20 29760 ENSG00000095585 OTTHUMG00000018827 uc001kls.5 AF068180 NM_013314 "CCDS73171|CCDS91311|CCDS58091|CCDS7446|CCDS44464" Q8WV28 "9697839|10583958" MGI:96878 RGD:1561933 "BLNKbase: Mutation registry for BLNK deficiency|http://structure.bmc.lu.se/idbase/BLNKbase/|LRG_21|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_21.xml" 604515 236971 HGNC:14211 "ENST00000224337.10|NM_013314.4" HGNC:14211 HGNC:4200 BLOC1S1 biogenesis of lysosomal organelles complex 1 subunit 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "BLOS1|BORCS1" "GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1|BLOC-1 Subunit 1|Biogenesis of Lysosome-related Organelles complex-1 Subunit 1" GCN5L1 GCN5 general control of amino-acid synthesis 5-like 1 (yeast) "Biogenesis of lysosomal organelles complex 1 subunits|BLOC-1 related complex subunits" "452|1048" 1995-11-15 2004-05-26 2016-01-15 2023-01-20 2647 ENSG00000135441 OTTHUMG00000169962 uc001shi.5 S82447 NM_001487 CCDS8889 P78537 "8646881|15102850" MGI:1195276 RGD:1307564 601444 HGNC:4200 "ENST00000548925.6|NM_001487.4" HGNC:4200 HGNC:20984 BLOC1S2 biogenesis of lysosomal organelles complex 1 subunit 2 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "MGC10120|FLJ30135|BLOS2|BORCS2" "centrosome protein oncogene|Biogenesis of Lysosome-related Organelles complex-1 Subunit 2|BLOC-1 subunit 2" "Biogenesis of lysosomal organelles complex 1 subunits|BLOC-1 related complex subunits" "452|1048" 2004-05-24 2016-01-15 2023-03-15 282991 ENSG00000196072 OTTHUMG00000018908 uc001kqw.3 AK054697 NM_173809 "CCDS73179|CCDS7490" Q6QNY1 "11483580|15102850" MGI:1920939 RGD:1306551 609768 HGNC:20984 "ENST00000370372.7|NM_173809.5" HGNC:51427 BLOC1S2P1 BLOC1S2 pseudogene 1 pseudogene pseudogene Approved Xq11.2 Xq11.2 biogenesis of lysosomal organelles complex-1, subunit 2 pseudogene 1 2014-11-21 2019-01-18 2019-01-18 100131924 ENSG00000236982 OTTHUMG00000021711 NG_030157 PGOHUM00000304665 HGNC:51427 HGNC:20914 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "BLOS3|HPS8" "BLOC-1 subunit 3|Biogenesis of Lysosome-related Organelles complex-1 Subunit 3|Hermansky-Pudlak syndrome 8" Biogenesis of lysosomal organelles complex 1 subunits 452 2004-05-24 2016-01-15 2023-01-20 388552 ENSG00000189114 OTTHUMG00000181776 uc002pax.5 AY531266 NM_212550 CCDS12656 Q6QNY0 15102850 MGI:2678952 RGD:1591724 LRG_546|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_546.xml 609762 119045 HGNC:20914 "ENST00000433642.3|NM_212550.5" HGNC:20914 HGNC:24206 BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "FLJ11230|BCAS4L" CNO cappuccino homolog (mouse) Biogenesis of lysosomal organelles complex 1 subunits 452 2005-03-03 2012-08-01 2016-01-15 2023-01-20 55330 ENSG00000186222 OTTHUMG00000125510 uc003gjp.2 BC001818 NM_018366 CCDS3393 Q9NUP1 "12576321|11110696" MGI:1929230 RGD:1306037 605695 HGNC:24206 "ENST00000320776.5|NM_018366.3" -HGNC:18561 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "MU|dJ303A1.3" MUTED muted homolog (mouse) Biogenesis of lysosomal organelles complex 1 subunits 452 2004-01-16 2012-08-01 2016-01-15 2023-01-20 63915 ENSG00000188428 OTTHUMG00000014220 uc003mxy.3 AF426434 NM_201280 "CCDS75394|CCDS4506" Q8TDH9 "11912185|32565547" MGI:2178598 RGD:1306846 607289 HGNC:18561 "ENST00000397457.7|NM_201280.3" HGNC:18561 +HGNC:18561 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "MU|dJ303A1.3" MUTED muted homolog (mouse) Biogenesis of lysosomal organelles complex 1 subunits 452 2004-01-16 2012-08-01 2016-01-15 2023-01-20 63915 ENSG00000188428 OTTHUMG00000014220 uc003mxy.3 AF426434 NM_201280 "CCDS4506|CCDS75394" Q8TDH9 "11912185|32565547" MGI:2178598 RGD:1306846 607289 HGNC:18561 "ENST00000397457.7|NM_201280.3" HGNC:18561 HGNC:42001 BLOC1S5-TXNDC5 BLOC1S5-TXNDC5 readthrough (NMD candidate) other readthrough Approved 6p24.3 06p24.3 MUTED-TXNDC5 MUTED-TXNDC5 readthrough (non-protein coding) 2011-05-31 2012-08-01 2013-05-09 2014-11-19 100526836 ENSG00000259040 OTTHUMG00000171453 uc063lrt.1 NR_037616.1 HGNC:42001 -HGNC:8549 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 HPS9 BLOC-1 subunit pallidin "PA|PLDN" "pallid (mouse) homolog, pallidin|pallidin homolog (mouse)" Biogenesis of lysosomal organelles complex 1 subunits 452 2000-01-21 2012-08-01 2016-01-15 2023-01-20 26258 ENSG00000104164 OTTHUMG00000131477 uc001zvq.4 AF080470 NM_012388 "CCDS81878|CCDS10126" Q9UL45 10610180 MGI:1927580 RGD:1310208 LRG_883|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_883.xml 604310 280669 HGNC:8549 "ENST00000220531.9|NM_012388.4" HGNC:8549 +HGNC:8549 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 HPS9 BLOC-1 subunit pallidin "PA|PLDN" "pallid (mouse) homolog, pallidin|pallidin homolog (mouse)" Biogenesis of lysosomal organelles complex 1 subunits 452 2000-01-21 2012-08-01 2016-01-15 2023-01-20 26258 ENSG00000104164 OTTHUMG00000131477 uc001zvq.4 AF080470 NM_012388 "CCDS10126|CCDS81878" Q9UL45 10610180 MGI:1927580 RGD:1310208 LRG_883|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_883.xml 604310 280669 HGNC:8549 "ENST00000220531.9|NM_012388.4" HGNC:8549 HGNC:54899 BLOC1S6P1 BLOC1S6 pseudogene 1 pseudogene pseudogene Approved Xp22.13 Xp22.13 2020-04-17 2020-04-17 100130035 ENSG00000196564 NG_042304 HGNC:26953 BLTP1 bridge-like lipid transfer protein family member 1 protein-coding gene gene with protein product Approved 4q27 04q27 "FLJ21404|FSA|KIAA1371|Tweek" fragile site-associated KIAA1109 KIAA1109 bridge-like lipid transfer protein family 2141 2004-07-29 2022-05-19 2022-05-19 2023-01-20 84162 ENSG00000138688 OTTHUMG00000150116 uc062zjm.1 AL137384 NM_020797 "CCDS43267|CCDS93617" Q2LD37 "19640479|29290337|35015055|35491307" MGI:2444631 RGD:1307100 611565 470546 HGNC:26953 "ENST00000679879.1|NM_001384125.1" HGNC:26953 -HGNC:28960 BLTP2 bridge-like lipid transfer protein family member 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "DKFZp686M0843|MGC111488|BCOX1|CT101|BCOX|FMP27|Hob" "cancer/testis antigen 101|breast cancer overexpressed gene 1" KIAA0100 KIAA0100 bridge-like lipid transfer protein family 2141 2005-11-22 2022-05-27 2022-05-27 2023-01-20 9703 ENSG00000007202 OTTHUMG00000166587 uc002hbu.4 D43947 NM_014680 "CCDS86585|CCDS32595" Q14667 "16289875|29867023" MGI:1919753 RGD:1307929 610664 HGNC:28960 "ENST00000528896.7|NM_014680.5" +HGNC:28960 BLTP2 bridge-like lipid transfer protein family member 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "DKFZp686M0843|MGC111488|BCOX1|CT101|BCOX|FMP27|Hob" "cancer/testis antigen 101|breast cancer overexpressed gene 1" KIAA0100 KIAA0100 bridge-like lipid transfer protein family 2141 2005-11-22 2022-05-27 2022-05-27 2023-01-20 9703 ENSG00000007202 OTTHUMG00000166587 uc002hbu.4 D43947 NM_014680 "CCDS32595|CCDS86585" Q14667 "16289875|29867023" MGI:1919753 RGD:1307929 610664 HGNC:28960 "ENST00000528896.7|NM_014680.5" HGNC:21216 BLTP3A bridge-like lipid transfer protein family member 3A protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "FLJ20302|dJ349A12.1" "C6orf107|UHRF1BP1" "chromosome 6 open reading frame 107|UHRF1 binding protein 1" bridge-like lipid transfer protein family 2141 2003-11-25 2022-05-27 2022-05-27 2023-02-23 54887 ENSG00000065060 OTTHUMG00000014557 uc003oju.5 AB126777 NM_017754 CCDS43455 Q6BDS2 MGI:3041238 RGD:1307264 619570 HGNC:21216 "ENST00000192788.6|NM_017754.4" HGNC:29102 BLTP3B bridge-like lipid transfer protein family member 3B protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "KIAA0701|SHIP164" UHRF1BP1L UHRF1 binding protein 1 like bridge-like lipid transfer protein family 2141 2007-11-27 2022-05-27 2022-05-27 2023-02-23 23074 ENSG00000111647 OTTHUMG00000170195 uc001tgq.4 NM_001006947 "CCDS31882|CCDS31883" A0JNW5 20163565 MGI:2442888 RGD:1594520 619811 HGNC:29102 "ENST00000279907.12|NM_015054.2" -HGNC:55473 BLTP3B-DT BLTP3B divergent transcript non-coding RNA RNA, long non-coding Approved 12q23.1 12q23.1 UHRF1BP1L-DT UHRF1BP1L divergent transcript Divergent transcripts 1990 2021-03-11 2023-05-09 2023-05-09 2023-05-09 120766146 ENSG00000257696 +HGNC:55473 BLTP3B-DT BLTP3B divergent transcript non-coding RNA RNA, long non-coding Approved 12q23.1 12q23.1 UHRF1BP1L-DT UHRF1BP1L divergent transcript Divergent transcripts 1990 2021-03-11 2023-05-09 2023-05-09 2023-05-09 120766146 ENSG00000257696 NR_186018 HGNC:1062 BLVRA biliverdin reductase A protein-coding gene gene with protein product Approved 7p13 07p13 BLVR Gfo/Idh/MocA-like oxidoreductase domain containing 2241 2001-06-22 2023-01-20 644 ENSG00000106605 OTTHUMG00000128953 uc003tir.4 BC008456 NM_000712 CCDS5472 P53004 MGI:88170 RGD:620721 109750 281690 1.3.1.24 HGNC:1062 "ENST00000265523.9|NM_000712.4" HGNC:1062 HGNC:1063 BLVRB biliverdin reductase B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 SDR43U1 short chain dehydrogenase/reductase family 43U, member 1 FLR "Flavin reductase|biliverdin reductase B (flavin reductase (NADPH))" Short chain dehydrogenase/reductase superfamily 743 1995-04-13 2014-11-21 2023-01-20 645 ENSG00000090013 OTTHUMG00000182593 uc002onw.3 D26308 NM_000713 CCDS33029 P30043 "7656592|19027726" MGI:2385271 RGD:1306080 600941 "1.3.1.24|1.5.1.30" HGNC:1063 "ENST00000263368.9|NM_000713.3" HGNC:56414 BLVRBP1 BLVRB pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 2022-10-19 2022-10-19 127379696 ENSG00000273682 NG_115697 PGOHUM00000299023 -HGNC:1065 BLZF1 basic leucine zipper nuclear factor 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 JEM-1 golgin-45 1999-06-21 2008-08-01 2023-01-20 8548 ENSG00000117475 OTTHUMG00000035453 uc001gfy.4 U79751 NM_003666 "CCDS1278|CCDS81397" Q9H2G9 "9129147|28049725" MGI:1201607 RGD:1562452 608692 HGNC:1065 "ENST00000367808.8|NM_001320973.2" +HGNC:1065 BLZF1 basic leucine zipper nuclear factor 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 JEM-1 golgin-45 1999-06-21 2008-08-01 2023-01-20 8548 ENSG00000117475 OTTHUMG00000035453 uc001gfy.4 U79751 NM_003666 "CCDS81397|CCDS1278" Q9H2G9 "9129147|28049725" MGI:1201607 RGD:1562452 608692 HGNC:1065 "ENST00000367808.8|NM_001320973.2" HGNC:20049 BLZF2P basic leucine zipper nuclear factor 2, pseudogene pseudogene pseudogene Approved 14q24.1 14q24.1 2003-01-13 2019-07-30 2019-07-30 317729 ENSG00000258565 OTTHUMG00000171760 NG_002462 PGOHUM00000247841 HGNC:20049 -HGNC:701 BMAL1 basic helix-loop-helix ARNT like 1 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "MOP3|JAP3|PASD3|bHLHe5|ARNTL1" "brain and muscle ARNT-like 1|basic helix-loop-helix family member e5|PAS domain containing 3|member of PAS superfamily 3" ARNTL aryl hydrocarbon receptor nuclear translocator like "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1997-11-06 2022-07-21 2022-07-21 2023-03-15 406 ENSG00000133794 OTTHUMG00000150623 uc001mkp.4 D89722 NM_001178 "CCDS73259|CCDS44543|CCDS91444" O00327 "9144434|9079689" MGI:1096381 RGD:62003 602550 HGNC:701 "ENST00000403290.6|NM_001297719.2" -HGNC:18984 BMAL2 basic helix-loop-helix ARNT like 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 "MOP9|CLIF|PASD9|bHLHe6" member of PAS superfamily 9 ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2003-08-21 2022-07-21 2022-07-21 2023-01-20 56938 ENSG00000029153 OTTHUMG00000169257 uc001rht.3 AF246961 NM_020183 "CCDS58221|CCDS58219|CCDS8712|CCDS91666|CCDS58222|CCDS58220" Q8WYA1 "10864977|10964693" MGI:2684845 RGD:620230 614517 HGNC:18984 "ENST00000266503.10|NM_020183.6" +HGNC:701 BMAL1 basic helix-loop-helix ARNT like 1 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "MOP3|JAP3|PASD3|bHLHe5|ARNTL1" "brain and muscle ARNT-like 1|basic helix-loop-helix family member e5|PAS domain containing 3|member of PAS superfamily 3" ARNTL aryl hydrocarbon receptor nuclear translocator like "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1997-11-06 2022-07-21 2022-07-21 2023-03-15 406 ENSG00000133794 OTTHUMG00000150623 uc001mkp.4 D89722 NM_001178 "CCDS91444|CCDS73259|CCDS44543" O00327 "9144434|9079689" MGI:1096381 RGD:62003 602550 HGNC:701 "ENST00000403290.6|NM_001297719.2" +HGNC:18984 BMAL2 basic helix-loop-helix ARNT like 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 "MOP9|CLIF|PASD9|bHLHe6" member of PAS superfamily 9 ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2003-08-21 2022-07-21 2022-07-21 2023-01-20 56938 ENSG00000029153 OTTHUMG00000169257 uc001rht.3 AF246961 NM_020183 "CCDS58220|CCDS58221|CCDS8712|CCDS58222|CCDS58219|CCDS91666" Q8WYA1 "10864977|10964693" MGI:2684845 RGD:620230 614517 HGNC:18984 "ENST00000266503.10|NM_020183.6" HGNC:49892 BMAL2-AS1 BMAL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.23 12p11.23 ARNTL2-AS1 ARNTL2 antisense RNA 1 Antisense RNAs 1987 2014-03-18 2022-07-21 2022-07-21 2022-07-21 101928646 ENSG00000245311 OTTHUMG00000169258 NR_109975 ARNTL2-AS1 HGNC:49892 -HGNC:19213 BMERB1 bMERB domain containing 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 FLJ32618 C16orf45 chromosome 16 open reading frame 45 2004-12-02 2019-02-21 2019-02-21 2023-01-20 89927 ENSG00000166780 OTTHUMG00000129883 uc002ddo.4 AK057180 NM_033201 "CCDS10561|CCDS45422" Q96MC5 27552051 MGI:1914504 RGD:1305733 HGNC:19213 "ENST00000300006.9|NM_033201.3" -HGNC:24132 BMF Bcl2 modifying factor protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ00065 BCL2 homology region 3 (BH3) only 1277 2004-01-16 2023-01-20 90427 ENSG00000104081 OTTHUMG00000129875 uc001zkw.6 BC060783 NM_033503 "CCDS45223|CCDS32196|CCDS10052" Q96LC9 11546872 MGI:2176433 RGD:628658 606266 HGNC:24132 "ENST00000354670.9|NM_001003940.2" +HGNC:19213 BMERB1 bMERB domain containing 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 FLJ32618 C16orf45 chromosome 16 open reading frame 45 2004-12-02 2019-02-21 2019-02-21 2023-01-20 89927 ENSG00000166780 OTTHUMG00000129883 uc002ddo.4 AK057180 NM_033201 "CCDS45422|CCDS10561" Q96MC5 27552051 MGI:1914504 RGD:1305733 HGNC:19213 "ENST00000300006.9|NM_033201.3" +HGNC:24132 BMF Bcl2 modifying factor protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ00065 BCL2 homology region 3 (BH3) only 1277 2004-01-16 2023-01-20 90427 ENSG00000104081 OTTHUMG00000129875 uc001zkw.6 BC060783 NM_033503 "CCDS10052|CCDS32196|CCDS45223" Q96LC9 11546872 MGI:2176433 RGD:628658 606266 HGNC:24132 "ENST00000354670.9|NM_001003940.2" HGNC:53612 BMF-AS1 BMF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 Antisense RNAs 1987 2017-07-06 2017-07-06 110806288 ENSG00000259409 OTTHUMG00000172394 HGNC:1066 BMI1 BMI1 proto-oncogene, polycomb ring finger protein-coding gene gene with protein product Approved 10p12.2 10p12.2 RNF51 PCGF4 "polycomb group ring finger 4|B lymphoma Mo-MLV insertion region 1 homolog (mouse)" "Ring finger proteins|Polycomb group ring fingers" "58|61" 1994-01-05 2006-04-26 2014-06-26 2023-01-20 648 ENSG00000168283 OTTHUMG00000017807 uc001irh.4 BC011652 NM_005180 CCDS7138 P35226 8268912 MGI:88174 RGD:1307403 164831 HGNC:1066 "ENST00000376663.8|NM_005180.9" HGNC:51428 BMI1P1 BMI1 proto-oncogene, polycomb ring finger pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 lnc-OPHN1-5 2014-11-21 2021-09-22 100127902 ENSG00000234201 OTTHUMG00000021739 NG_011910 PGOHUM00000304678 HGNC:51428 HGNC:54188 BMNCR bone marrow associated non-coding RNA non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Long non-coding RNAs with non-systematic symbols 1992 2019-02-27 2019-02-27 107985249 XR_001738390 30352426 MGI:5590788 618553 HGNC:54188 -HGNC:1067 BMP1 bone morphogenetic protein 1 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 BMP-1 "procollagen C-endopeptidase|tolloid-like" PCOLC procollagen C-endopeptidase "Bone morphogenetic proteins|Astacins" "455|894" 1990-06-11 2004-08-09 2023-03-15 649 ENSG00000168487 OTTHUMG00000097761 uc003xbg.5 NM_006132 "CCDS6026|CCDS34856" P13497 2004778 MGI:88176 RGD:620739 112264 287069 M12.005 objectId:2333 3.4.24.19 HGNC:1067 "ENST00000306385.10|NM_006129.5" HGNC:1067 +HGNC:1067 BMP1 bone morphogenetic protein 1 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 BMP-1 "procollagen C-endopeptidase|tolloid-like" PCOLC procollagen C-endopeptidase "Bone morphogenetic proteins|Astacins" "455|894" 1990-06-11 2004-08-09 2023-03-15 649 ENSG00000168487 OTTHUMG00000097761 uc003xbg.5 NM_006132 "CCDS34856|CCDS6026" P13497 2004778 MGI:88176 RGD:620739 112264 287069 M12.005 objectId:2333 3.4.24.19 HGNC:1067 "ENST00000306385.10|NM_006129.5" HGNC:1067 HGNC:1069 BMP2 bone morphogenetic protein 2 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 BMP2A Bone morphogenetic proteins 455 1990-06-11 2023-01-20 650 ENSG00000125845 OTTHUMG00000031833 uc002wmu.2 NM_001200 CCDS13099 P12643 2376592 MGI:88177 RGD:2211 112261 179459 ligandId:4881 HGNC:1069 "ENST00000378827.5|NM_001200.4" HGNC:1069 -HGNC:18041 BMP2K BMP2 inducible kinase protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "DKFZp434K0614|BIKe" MicroRNA protein coding host genes 1691 2003-07-21 2023-01-20 55589 ENSG00000138756 OTTHUMG00000160900 uc003hlj.4 AB015331 NM_017593 "CCDS47083|CCDS34019" Q9NSY1 MGI:2155456 RGD:1564828 617648 objectId:1941 HGNC:18041 "ENST00000502613.3|NM_198892.2" +HGNC:18041 BMP2K BMP2 inducible kinase protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "DKFZp434K0614|BIKe" MicroRNA protein coding host genes 1691 2003-07-21 2023-01-20 55589 ENSG00000138756 OTTHUMG00000160900 uc003hlj.4 AB015331 NM_017593 "CCDS34019|CCDS47083" Q9NSY1 MGI:2155456 RGD:1564828 617648 objectId:1941 HGNC:18041 "ENST00000502613.3|NM_198892.2" HGNC:55396 BMP2K-DT BMP2K divergent transcript non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 Divergent transcripts 1990 2020-12-21 2020-12-21 119863864 ENSG00000260278 HGNC:17080 BMP2KL BMP2 inducible kinase like (pseudogene) pseudogene pseudogene Approved Xq13.2 Xq13.2 BMP2 inducible kinase-like 2004-08-16 2019-01-21 2020-04-02 347359 ENSG00000204113 OTTHUMG00000021848 XM_293293 Q5H9B9 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BMP2KL PGOHUM00000262171 HGNC:17080 HGNC:1070 BMP3 bone morphogenetic protein 3 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 osteogenin bone morphogenetic protein 3 (osteogenic) Bone morphogenetic proteins 455 1990-06-11 2008-05-22 2023-01-20 651 ENSG00000152785 OTTHUMG00000130292 uc003hmg.4 M22491 NM_001201 CCDS3588 P12645 MGI:88179 RGD:2212 112263 470002 ligandId:4882 HGNC:1070 "ENST00000282701.4|NM_001201.5" @@ -2509,11 +2509,11 @@ HGNC:55088 BMS1P23 BMS1 pseudogene 23 pseudogene pseudogene Approved 2q11.1 02q1 HGNC:26475 BMT2 base methyltransferase of 25S rRNA 2 homolog protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "DKFZp762M126|FLJ31818|SAMTOR" "hypothetical protein FLJ31818|S-adenosylmethionine sensor upstream of mTORC1" C7orf60 chromosome 7 open reading frame 60 Seven-beta-strand methyltransferase motif containing 1400 2008-06-19 2016-04-22 2016-04-22 2023-01-20 154743 ENSG00000164603 OTTHUMG00000155233 uc003vgo.2 NM_152556 CCDS43634 Q1RMZ1 "23558746|29123071" MGI:2141466 RGD:1588441 617855 HGNC:26475 "ENST00000297145.9|NM_152556.3" HGNC:1079 BMX BMX non-receptor tyrosine kinase protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "ETK|PSCTK3" BTK-like on X chromosome "Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases" "682|741|1457" 1995-07-11 2023-01-20 660 ENSG00000102010 OTTHUMG00000021180 uc004cww.3 AF045459 NM_001721 CCDS14168 P51813 7970727 MGI:1101778 RGD:1565643 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BMX 300101 objectId:1942 HGNC:1079 "ENST00000348343.11|NM_203281.3" HGNC:56666 BNAT1 breast cancer associated ESR1 regulating natural antisense transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 LL21NC02-21A1.1 breast cancer natural antisense transcript 1 Long non-coding RNAs with non-systematic symbols 1992 2023-01-12 2023-01-12 101928745 ENSG00000273796 NR_183526 36429038 -HGNC:1081 BNC1 basonuclin zinc finger protein 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "HsT19447|bn1|BSN1" BNC "basonuclin|basonuclin 1" "Zinc fingers C2H2-type|Basonuclin zinc finger proteins" "28|2242" 1997-09-12 2004-05-04 2023-06-01 2023-06-01 646 ENSG00000169594 OTTHUMG00000147362 uc002bjt.2 L03427 NM_001717 "CCDS10324|CCDS73771" Q01954 "1332044|30010909" MGI:1097164 RGD:1309042 601930 HGNC:1081 "ENST00000345382.7|NM_001717.4" HGNC:1081 +HGNC:1081 BNC1 basonuclin zinc finger protein 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "HsT19447|bn1|BSN1" BNC "basonuclin|basonuclin 1" "Zinc fingers C2H2-type|Basonuclin zinc finger proteins" "28|2242" 1997-09-12 2004-05-04 2023-06-01 2023-06-01 646 ENSG00000169594 OTTHUMG00000147362 uc002bjt.2 L03427 NM_001717 "CCDS73771|CCDS10324" Q01954 "1332044|30010909" MGI:1097164 RGD:1309042 601930 HGNC:1081 "ENST00000345382.7|NM_001717.4" HGNC:1081 HGNC:30988 BNC2 basonuclin zinc finger protein 2 protein-coding gene gene with protein product Approved 9p22.3-p22.2 09p22.3-p22.2 "BSN2|FLJ20043|bn2" basonuclin 2 "Zinc fingers C2H2-type|Basonuclin zinc finger proteins" "28|2242" 2004-04-29 2023-06-01 2023-06-01 54796 ENSG00000173068 OTTHUMG00000019593 uc003zml.4 AK092247 NM_017637 CCDS6482 Q6ZN30 "15081112|24916375" MGI:2443805 RGD:1310694 608669 HGNC:30988 "ENST00000380672.9|NM_017637.6" HGNC:30988 HGNC:53727 BNC2-AS1 BNC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p22.2 09p22.2 RP11-62F24.2 Antisense RNAs 1987 2017-09-08 2021-07-01 111216284 ENSG00000234779 OTTHUMG00000019591 NR_151723 28879717 HGNC:53727 HGNC:1082 BNIP1 BCL2 interacting protein 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "Nip1|SEC20" BCL2/adenovirus E1B 19kDa interacting protein 1 "SNAREs|BCL2 homology region 3 (BH3) only" "1124|1277" 1997-03-19 2016-06-21 2023-01-20 662 ENSG00000113734 OTTHUMG00000130521 uc003mcj.5 AF083957 NM_013979 "CCDS4385|CCDS4386|CCDS43400|CCDS4384" Q12981 "7954800|15272311" MGI:109328 RGD:620799 603291 HGNC:1082 "ENST00000351486.10|NM_001205.3" -HGNC:1083 BNIP2 BCL2 interacting protein 2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "Nip2|BNIP-2" BCL2/adenovirus E1B 19kDa interacting protein 2 "BCL2 family|BCH domain containing " "1057|1299" 1997-03-19 2016-06-21 2023-01-20 663 ENSG00000140299 OTTHUMG00000132727 uc059jvv.1 U15173 NM_004330 "CCDS10174|CCDS92007" Q12982 7954800 MGI:109327 RGD:1308944 603292 HGNC:1083 "ENST00000607373.6|NM_004330.4" +HGNC:1083 BNIP2 BCL2 interacting protein 2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "Nip2|BNIP-2" BCL2/adenovirus E1B 19kDa interacting protein 2 "BCL2 family|BCH domain containing " "1057|1299" 1997-03-19 2016-06-21 2023-01-20 663 ENSG00000140299 OTTHUMG00000132727 uc059jvv.1 U15173 NM_004330 "CCDS92007|CCDS10174" Q12982 7954800 MGI:109327 RGD:1308944 603292 HGNC:1083 "ENST00000607373.6|NM_004330.4" HGNC:1084 BNIP3 BCL2 interacting protein 3 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "Nip3|HABON" "nineteen kD interacting protein-3|Hypoxia-Activated BNIP3 Overlapping Non-coding RNA" BCL2/adenovirus E1B 19kDa interacting protein 3 BCL2 homology region 3 (BH3) only 1277 1997-03-19 2016-06-21 2023-01-20 664 ENSG00000176171 OTTHUMG00000019278 uc001lkv.3 U15174 NM_004052 CCDS7663 Q12983 7954800 MGI:109326 RGD:620800 603293 HGNC:1084 "ENST00000368636.9|NM_004052.4" HGNC:1085 BNIP3L BCL2 interacting protein 3 like protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "Nix|BNIP3a" NIP-3-like protein X BCL2/adenovirus E1B 19kDa interacting protein 3 like 1997-07-01 2016-06-21 2023-01-20 665 ENSG00000104765 OTTHUMG00000099433 uc003xex.2 AB004788 NM_004331 "CCDS83267|CCDS6050" O60238 "9523198|9973195" MGI:1332659 RGD:621354 605368 HGNC:1085 "ENST00000380629.7|NM_004331.3" HGNC:19922 BNIP3P1 BCL2 interacting protein 3 pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 BNIP3P "BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene|BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1" 2003-01-13 2011-03-18 2016-06-21 2017-06-16 319138 ENSG00000197358 OTTHUMG00000170378 NG_002516 28618048 PGOHUM00000258788 HGNC:19922 @@ -2565,7 +2565,7 @@ HGNC:56387 BNIP3P46 BNIP3 pseudogene 46 pseudogene pseudogene Approved 2q21.2 02 HGNC:56390 BNIP3P47 BNIP3 pseudogene 47 pseudogene pseudogene Approved 19p12 19p12 2022-10-18 2022-10-18 127379681 ENSG00000273791 NG_115684 PGOHUM00000307549 HGNC:33769 BNIP5 BCL2 interacting protein 5 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 DKFZp779B1540 C6orf222 chromosome 6 open reading frame 222 2007-12-18 2019-05-09 2019-05-09 2023-01-20 389384 ENSG00000189325 OTTHUMG00000014591 uc003oly.4 NM_001010903 CCDS34439 P0C671 24967846 MGI:1925441 RGD:1591066 HGNC:33769 "ENST00000437635.3|NM_001010903.5" HGNC:16976 BNIPL BCL2 interacting protein like protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "BNIPl-1|BNIPL-2|PP753|BNIP-S|BNIP-Salpha|BNIP-Sbeta" BCL2/adenovirus E1B 19kD interacting protein like BCH domain containing 1299 2002-04-26 2016-06-21 2023-03-15 149428 ENSG00000163141 OTTHUMG00000035157 uc001ewl.3 AF193056 NM_138279 "CCDS53362|CCDS978" Q7Z465 "12681488|11741952" MGI:2384749 RGD:1309478 611275 HGNC:16976 "ENST00000368931.8|NM_138278.4" -HGNC:17173 BOC BOC cell adhesion associated, oncogene regulated protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "CDON2|Boi" "brother of CDO|brother of CDON|cell adhesion associated, oncogene regulated 2" Boc homolog (mouse) "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2006-02-02 2012-12-07 2023-01-20 91653 ENSG00000144857 OTTHUMG00000159305 uc003dzx.4 AY027658 NM_033254 "CCDS2971|CCDS77788|CCDS77789" Q9BWV1 11782431 MGI:2151153 RGD:1304550 608708 HGNC:17173 "ENST00000682979.1|NM_001378074.1" +HGNC:17173 BOC BOC cell adhesion associated, oncogene regulated protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "CDON2|Boi" "brother of CDO|brother of CDON|cell adhesion associated, oncogene regulated 2" Boc homolog (mouse) "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2006-02-02 2012-12-07 2023-01-20 91653 ENSG00000144857 OTTHUMG00000159305 uc003dzx.4 AY027658 NM_033254 "CCDS77789|CCDS77788|CCDS2971" Q9BWV1 11782431 MGI:2151153 RGD:1304550 608708 HGNC:17173 "ENST00000682979.1|NM_001378074.1" HGNC:25114 BOD1 biorientation of chromosomes in cell division 1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 biorientation defective 1 FAM44B family with sequence similarity 44, member B 2004-07-29 2009-03-04 2009-03-04 2023-01-20 91272 ENSG00000145919 OTTHUMG00000130540 uc003mcq.3 AY303777 NM_138369 "CCDS54951|CCDS4389" Q96IK1 17938248 MGI:1916806 RGD:1305622 616745 HGNC:25114 "ENST00000311086.9|NM_138369.3" HGNC:25114 HGNC:31792 BOD1L1 biorientation of chromosomes in cell division 1 like 1 protein-coding gene gene with protein product Approved 4p15.33 04p15.33 "FLJ33215|KIAA1327" "FAM44A|BOD1L" "family with sequence similarity 44, member A|biorientation of chromosomes in cell division 1-like" 2004-07-29 2012-04-10 2016-01-13 2023-01-20 259282 ENSG00000038219 OTTHUMG00000090659 uc003gmz.2 AF528529 NM_148894 CCDS3411 Q8NFC6 MGI:2444804 RGD:621413 616746 HGNC:31792 "ENST00000040738.10|NM_148894.3" HGNC:28505 BOD1L2 biorientation of chromosomes in cell division 1 like 2 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 MGC33608 "FAM44C|BOD1P" "family with sequence similarity 44, member C|biorientation of chromosomes in cell division 1 pseudogene" 2005-01-05 2012-04-10 2016-01-13 2023-01-20 284257 ENSG00000228075 OTTHUMG00000180124 uc002lgm.4 AK127964 NM_001257964 CCDS59322 Q8IYS8 17938248 MGI:1916806 HGNC:28505 "ENST00000585477.2|NM_001257964.2" @@ -2580,16 +2580,16 @@ HGNC:32479 BOLA2B bolA family member 2B protein-coding gene gene with protein pr HGNC:51437 BOLA2P1 bolA family member 2 pseudogene 1 pseudogene pseudogene Approved 18p11.32 18p11.32 2014-11-26 2015-03-04 100652796 ENSG00000266575 OTTHUMG00000178360 NG_032707 PGOHUM00000294700 HGNC:51437 HGNC:51438 BOLA2P2 bolA family member 2 pseudogene 2 pseudogene pseudogene Approved 3p21.31 03p21.31 2014-11-26 2014-11-26 106480322 ENSG00000271161 OTTHUMG00000184335 NG_044442 PGOHUM00000299428 HGNC:51438 HGNC:51439 BOLA2P3 bolA family member 2 pseudogene 3 pseudogene pseudogene Approved 6p22.3 06p22.3 2014-11-26 2014-11-26 106480323 ENSG00000220771 OTTHUMG00000014343 NG_044450 PGOHUM00000301673 HGNC:51439 -HGNC:24415 BOLA3 bolA family member 3 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "bolA-like 3 (E. coli)|bolA homolog 3 (E. coli)" Mitochondrial iron-sulfur assembly components 1853 2005-05-09 2013-09-02 2023-01-20 388962 ENSG00000163170 OTTHUMG00000152834 uc002skc.2 BC017744 NM_212552 "CCDS33224|CCDS33225" Q53S33 14718656 MGI:1925903 RGD:1305975 613183 289583 HGNC:24415 "ENST00000327428.10|NM_212552.3" HGNC:24415 +HGNC:24415 BOLA3 bolA family member 3 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "bolA-like 3 (E. coli)|bolA homolog 3 (E. coli)" Mitochondrial iron-sulfur assembly components 1853 2005-05-09 2013-09-02 2023-01-20 388962 ENSG00000163170 OTTHUMG00000152834 uc002skc.2 BC017744 NM_212552 "CCDS33225|CCDS33224" Q53S33 14718656 MGI:1925903 RGD:1305975 613183 289583 HGNC:24415 "ENST00000327428.10|NM_212552.3" HGNC:24415 HGNC:42922 BOLA3-DT BOLA3 divergent transcript non-coding RNA RNA, long non-coding Approved 2p13.1 02p13.1 BOLA3-AS1 "BOLA3 antisense RNA 1 (non-protein coding)|BOLA3 antisense RNA 1|BOLA3 antisense RNA 1 (head to head)" Divergent transcripts 1990 2011-09-05 2021-08-13 2018-03-21 2021-08-13 100507171 ENSG00000225439 OTTHUMG00000152835 uc002ske.4 "BC030102|AK123453" NR_045634 BOLA3-AS1 HGNC:42922 HGNC:51440 BOLA3P1 bolA family member 3 pseudogene 1 pseudogene pseudogene Approved 11q22.2 11q22.2 2014-11-26 2014-11-26 100288111 ENSG00000255469 OTTHUMG00000165849 NG_030177 PGOHUM00000291121 HGNC:51440 HGNC:51441 BOLA3P2 bolA family member 3 pseudogene 2 pseudogene pseudogene Approved 19p13.2 19p13.2 2014-11-26 2014-11-26 100287463 ENSG00000267332 OTTHUMG00000179928 NG_046608 PGOHUM00000295183 HGNC:51441 HGNC:51442 BOLA3P3 bolA family member 3 pseudogene 3 pseudogene pseudogene Approved 5q23.2 05q23.2 2014-11-26 2014-11-26 644754 ENSG00000213630 OTTHUMG00000163033 NG_030074 PGOHUM00000300744 HGNC:51442 HGNC:51443 BOLA3P4 bolA family member 3 pseudogene 4 pseudogene pseudogene Approved 9p21.1 09p21.1 2014-11-26 2014-11-26 106480324 ENSG00000223807 OTTHUMG00000019755 NG_045852 PGOHUM00000304149 HGNC:51443 -HGNC:14273 BOLL boule homolog, RNA binding protein protein-coding gene gene with protein product Approved 2q33.1 02q33.1 BOULE "bol (Drosophila boule homolog)-like|bol, boule-like (Drosophila)|boule-like RNA binding protein" "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 2001-02-14 2015-11-12 2023-01-20 66037 ENSG00000152430 OTTHUMG00000132747 uc002uut.4 NM_033030 "CCDS63081|CCDS2324|CCDS2325" Q8N9W6 "11390979|16001084" MGI:1922638 RGD:1559527 606165 HGNC:14273 "ENST00000392296.9|NM_033030.6" +HGNC:14273 BOLL boule homolog, RNA binding protein protein-coding gene gene with protein product Approved 2q33.1 02q33.1 BOULE "bol (Drosophila boule homolog)-like|bol, boule-like (Drosophila)|boule-like RNA binding protein" "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 2001-02-14 2015-11-12 2023-01-20 66037 ENSG00000152430 OTTHUMG00000132747 uc002uut.4 NM_033030 "CCDS63081|CCDS2325|CCDS2324" Q8N9W6 "11390979|16001084" MGI:1922638 RGD:1559527 606165 HGNC:14273 "ENST00000392296.9|NM_033030.6" HGNC:15519 BOP1 BOP1 ribosomal biogenesis factor protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA0124 block of proliferation 1 "WD repeat domain containing|MicroRNA protein coding host genes|PeBoW complex" "362|1691|1732" 2001-08-28 2018-11-02 2023-01-20 23246 ENSG00000261236 OTTHUMG00000174603 uc033ccj.2 AK024840 NM_015201 CCDS6418 Q14137 8590280 MGI:1334460 RGD:1310589 610596 HGNC:15519 "ENST00000569669.6|NM_015201.5" HGNC:24724 BORA BORA aurora kinase A activator protein-coding gene gene with protein product Approved 13q21.33 13q21.33 FLJ22624 C13orf34 "chromosome 13 open reading frame 34|bora, aurora kinase A activator" 2006-08-15 2011-08-09 2019-01-18 2023-01-20 79866 ENSG00000136122 OTTHUMG00000017068 uc001viv.2 BC025367 NM_024808 "CCDS66560|CCDS9446" Q6PGQ7 "16890155|18378770|18566290|19487276" MGI:1924994 RGD:1309522 610510 HGNC:24724 "ENST00000390667.11|NM_024808.5" -HGNC:17950 BORCS5 BLOC-1 related complex subunit 5 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 LOH1CR12 myrlysin LOH12CR1 loss of heterozygosity, 12, chromosomal region 1 BLOC-1 related complex subunits 1048 2002-01-08 2015-08-07 2015-08-07 2023-01-20 118426 ENSG00000165714 OTTHUMG00000168542 AY037865 NM_001300742 "CCDS81669|CCDS8649|CCDS73448" Q969J3 "11896457|15284860|25898167" MGI:1915024 RGD:1307624 616598 HGNC:17950 "ENST00000314565.9|NM_058169.6" HGNC:17950 +HGNC:17950 BORCS5 BLOC-1 related complex subunit 5 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 LOH1CR12 myrlysin LOH12CR1 loss of heterozygosity, 12, chromosomal region 1 BLOC-1 related complex subunits 1048 2002-01-08 2015-08-07 2015-08-07 2023-01-20 118426 ENSG00000165714 OTTHUMG00000168542 AY037865 NM_001300742 "CCDS81669|CCDS73448|CCDS8649" Q969J3 "11896457|15284860|25898167" MGI:1915024 RGD:1307624 616598 HGNC:17950 "ENST00000314565.9|NM_058169.6" HGNC:17950 HGNC:25939 BORCS6 BLOC-1 related complex subunit 6 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ20014 lyspersin C17orf59 chromosome 17 open reading frame 59 BLOC-1 related complex subunits 1048 2005-12-16 2015-08-07 2015-08-07 2023-01-20 54785 ENSG00000196544 OTTHUMG00000153930 BC018880 NM_017622 CCDS11133 Q96GS4 25898167 MGI:1919173 RGD:1563885 616599 HGNC:25939 "ENST00000389017.6|NM_017622.3" HGNC:23516 BORCS7 BLOC-1 related complex subunit 7 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 FLJ40752 diaskedin C10orf32 chromosome 10 open reading frame 32 BLOC-1 related complex subunits 1048 2003-11-21 2015-08-07 2015-08-07 2023-01-20 119032 ENSG00000166275 OTTHUMG00000018975 AK098071 NM_144591 CCDS7542 Q96B45 25898167 MGI:1913689 RGD:1311783 616600 HGNC:23516 "ENST00000339834.10|NM_001136200.2" HGNC:49183 BORCS7-ASMT BORCS7-ASMT readthrough (NMD candidate) other readthrough Approved 10q24.32 10q24.32 C10orf32-ASMT C10orf32-ASMT readthrough (NMD candidate) 2013-09-25 2015-08-07 2015-08-07 2015-08-07 100528007 ENSG00000270316 OTTHUMG00000184175 NR_037644 HGNC:49183 @@ -2598,7 +2598,7 @@ HGNC:39979 BORCS8-MEF2B BORCS8-MEF2B readthrough other readthrough Approved 19p1 HGNC:49883 BORCS8P1 BORCS8 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 MEF2BNBP1 MEF2B neighbor pseudogene 1 2014-03-18 2021-03-24 2021-03-24 2021-03-24 100128109 ENSG00000256844 OTTHUMG00000168903 NG_011617 PGOHUM00000250989 HGNC:49883 HGNC:13228 BPESC1 blepharophimosis, epicanthus inversus and ptosis candidate 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 NCRNA00187 non-protein coding RNA 187 "blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding)|blepharophimosis, epicanthus inversus and ptosis, candidate 1" Long non-coding RNAs with non-systematic symbols 1992 2000-11-28 2018-08-16 2023-03-15 60467 ENSG00000232416 OTTHUMG00000141266 uc003eta.4 AF196865 NR_026783 Q9GZL8 10995571 618995 BPESC1 HGNC:13228 HGNC:1093 BPGM bisphosphoglycerate mutase protein-coding gene gene with protein product Approved 7q33 07q33 2,3-bisphosphoglycerate mutase "Phosphoglycerate mutases|Bisphosphoglycerate phosphatases" "1078|1082" 2001-06-22 2015-11-27 2023-01-20 669 ENSG00000172331 OTTHUMG00000155380 uc003vrw.4 BC017050 NM_001724 CCDS5833 P07738 MGI:1098242 RGD:735018 613896 119064 "5.4.2.4|3.1.3.13" HGNC:1093 "ENST00000344924.8|NM_001724.5" HGNC:1093 -HGNC:1094 BPHL biphenyl hydrolase like protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "Bph-rp|VACVase" "breast epithelial mucin-associated antigen|valacyclovir hydrolase" MCNAA biphenyl hydrolase-like (serine hydrolase) 1997-10-17 2016-07-19 2023-01-20 670 ENSG00000137274 OTTHUMG00000014140 uc003mva.4 X81372 NM_001302777 "CCDS78105|CCDS4483" Q86WA6 "7759552|9721218|15832508" MGI:1915271 RGD:1307572 603156 S33.982 HGNC:1094 "ENST00000380379.10|NM_004332.4" +HGNC:1094 BPHL biphenyl hydrolase like protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "Bph-rp|VACVase" "breast epithelial mucin-associated antigen|valacyclovir hydrolase" MCNAA biphenyl hydrolase-like (serine hydrolase) 1997-10-17 2016-07-19 2023-01-20 670 ENSG00000137274 OTTHUMG00000014140 uc003mva.4 X81372 NM_001302777 "CCDS4483|CCDS78105" Q86WA6 "7759552|9721218|15832508" MGI:1915271 RGD:1307572 603156 S33.982 HGNC:1094 "ENST00000380379.10|NM_004332.4" HGNC:1095 BPI bactericidal permeability increasing protein protein-coding gene gene with protein product Approved 20q11.23 20q11.23 BPIFD1 BPI fold containing family D, member 1 bactericidal/permeability-increasing protein BPI fold containing 456 1992-03-13 2018-02-09 2023-01-20 671 ENSG00000101425 OTTHUMG00000032441 uc002xib.3 J04739 NM_001725 CCDS13303 P17213 8432532 MGI:3045315 RGD:1303179 109195 HGNC:1095 "ENST00000642449.2|NM_001725.3" HGNC:15749 BPIFA1 BPI fold containing family A member 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "LUNX|bA49G10.5|SPLUNC1" PLUNC "palate, lung and nasal epithelium carcinoma associated|palate, lung and nasal epithelium associated" BPI fold containing 456 2001-09-17 2011-07-29 2015-12-07 2023-01-20 51297 ENSG00000198183 OTTHUMG00000032243 uc002wyu.5 AB024937 NM_130852 CCDS13217 Q9NP55 "11018263|11251963|21787333" MGI:1338036 RGD:619818 607412 HGNC:15749 "ENST00000354297.9|NM_130852.3" HGNC:16203 BPIFA2 BPI fold containing family A member 2 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "bA49G10.1|SPLUNC2|PSP" C20orf70 chromosome 20 open reading frame 70 BPI fold containing 456 2001-07-17 2011-07-29 2015-12-07 2023-01-20 140683 ENSG00000131050 OTTHUMG00000032244 uc061wfu.1 AF432917 NM_080574 CCDS13214 Q96DR5 11971875 MGI:97787 RGD:3431 HGNC:16203 "ENST00000354932.6|NM_080574.4" @@ -2612,7 +2612,7 @@ HGNC:42177 BPIFB5P BPI fold containing family B member 5, pseudogene pseudogene HGNC:16504 BPIFB6 BPI fold containing family B member 6 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 LPLUNC6 BPIL3 bactericidal/permeability-increasing protein-like 3 BPI fold containing 456 2001-11-14 2011-07-29 2015-12-07 2023-01-20 128859 ENSG00000167104 OTTHUMG00000032238 uc010zuc.2 AF465767 NM_174897 CCDS13211 Q8NFQ5 "12185532|21787333" MGI:2684965 RGD:1311602 614110 HGNC:16504 "ENST00000349552.1|NM_174897.2" HGNC:16109 BPIFB9P BPI fold containing family B member 9, pseudogene pseudogene pseudogene Approved 20q11.21 20q11.21 dJ1187J4.2 C20orf115 chromosome 20 open reading frame 115 BPI fold containing 456 2001-07-17 2011-08-01 2015-12-07 2015-12-07 402016 ENSG00000125997 OTTHUMG00000032253 NG_029803 MGI:3767993 HGNC:16109 HGNC:16503 BPIFC BPI fold containing family C protein-coding gene gene with protein product Approved 22q12.3 22q12.3 dJ149A16.7 BPIL2 bactericidal/permeability-increasing protein-like 2 BPI fold containing 456 2001-11-14 2011-08-01 2011-08-01 2023-02-10 254240 ENSG00000184459 OTTHUMG00000058273 uc062dnp.1 AF465766 NM_174932 CCDS13906 Q8NFQ6 21787333 MGI:3026884 RGD:1311686 614109 HGNC:16503 "ENST00000300399.9|NM_174932.3" HGNC:16503 -HGNC:1096 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 protein-coding gene gene with protein product Approved 1q41 01q41 Phosphoinositide phosphatases 1079 1999-07-07 2023-01-20 10380 ENSG00000162813 OTTHUMG00000037435 uc057png.1 AF125042 NM_006085 "CCDS65788|CCDS41469|CCDS65787" O95861 10224133 MGI:1338800 RGD:621833 604053 3.1.3.7 HGNC:1096 "ENST00000322067.12|NM_006085.6" +HGNC:1096 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 protein-coding gene gene with protein product Approved 1q41 01q41 Phosphoinositide phosphatases 1079 1999-07-07 2023-01-20 10380 ENSG00000162813 OTTHUMG00000037435 uc057png.1 AF125042 NM_006085 "CCDS65788|CCDS65787|CCDS41469" O95861 10224133 MGI:1338800 RGD:621833 604053 3.1.3.7 HGNC:1096 "ENST00000322067.12|NM_006085.6" HGNC:26019 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "FLJ20421|IMPA3|gPAPP" "golgi-resident nucleotide phosphatase|Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase" IMPAD1 inositol monophosphatase domain containing 1 2005-08-02 2020-01-07 2020-01-07 2023-01-20 54928 ENSG00000104331 OTTHUMG00000164415 uc003xte.5 NM_017813 CCDS6169 Q9NX62 "21549340|22289690|18695242|24799377" MGI:1915720 RGD:1306455 614010 280591 3.1.3.7 HGNC:26019 "ENST00000262644.9|NM_017813.5" HGNC:26019 HGNC:54752 BPNT2P1 BPNT2 pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 BPNT2P 3'(2'), 5'-bisphosphate nucleotidase 2, pseudogene 2020-01-22 2020-12-09 2020-12-09 2020-12-09 100421537 ENSG00000270936 OTTHUMG00000184470 NG_027037 PGOHUM00000296031 HGNC:3581 BPTF bromodomain PHD finger transcription factor protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "FAC1|NURF301" FALZ fetal Alzheimer antigen "PHD finger proteins|Bromodomain containing|NURF complex" "88|1232|1363" 1996-10-30 2006-12-01 2006-12-01 2023-01-20 2186 ENSG00000171634 OTTHUMG00000132254 uc002jgf.4 AY282495 "NM_182641|NM_004459" CCDS11673 Q12830 "8975731|10662542|16728976" MGI:2444008 RGD:1307039 601819 objectId:2723 HGNC:3581 "ENST00000306378.11|NM_182641.4" HGNC:3581 @@ -2621,21 +2621,21 @@ HGNC:13508 BPY2 basic charge Y-linked 2 protein-coding gene gene with protein pr HGNC:25449 BPY2B basic charge Y-linked 2B protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 VCY2B 2004-08-25 2018-04-26 2023-01-20 442867 ENSG00000183795 OTTHUMG00000045101 uc004fwi.4 NM_001002760 CCDS44029 O14599 HGNC:25449 "ENST00000382392.5|NM_001002760.1" HGNC:18225 BPY2C basic charge Y-linked 2C protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 VCY2C 2004-08-25 2018-04-26 2023-01-20 442868 ENSG00000185894 OTTHUMG00000045199 uc004fws.4 NM_001002761 CCDS44030 O14599 HGNC:18225 "ENST00000382287.5|NM_001002761.1" HGNC:38794 BPY2DP basic charge Y-linked 2D, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-08-04 2018-04-26 2018-04-26 100885797 ENSG00000229745 OTTHUMG00000041060 NG_032694 HGNC:38794 -HGNC:1097 BRAF B-Raf proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 7q34 07q34 "BRAF1|BRAF-1" v-raf murine sarcoma viral oncogene homolog B "Mitogen-activated protein kinase kinase kinases|RAF family" "654|1157" 1991-07-16 2014-06-26 2023-01-20 673 ENSG00000157764 OTTHUMG00000157457 uc003vwc.5 M95712 NM_004333 "CCDS87555|CCDS5863|CCDS94218|CCDS94219" P15056 "2284096|1565476" MGI:88190 RGD:619908 LRG_299|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_299.xml BRAF 164757 119066 objectId:1943 HGNC:1097 "ENST00000646891.2|NM_004333.6" HGNC:1097 +HGNC:1097 BRAF B-Raf proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 7q34 07q34 "BRAF1|BRAF-1" v-raf murine sarcoma viral oncogene homolog B "Mitogen-activated protein kinase kinase kinases|RAF family" "654|1157" 1991-07-16 2014-06-26 2023-01-20 673 ENSG00000157764 OTTHUMG00000157457 uc003vwc.5 M95712 NM_004333 "CCDS5863|CCDS94219|CCDS94218|CCDS87555" P15056 "2284096|1565476" MGI:88190 RGD:619908 LRG_299|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_299.xml BRAF 164757 119066 objectId:1943 HGNC:1097 "ENST00000646891.2|NM_004333.6" HGNC:1097 HGNC:18615 BRAFP1 BRAF pseudogene 1 pseudogene pseudogene Approved Xq13.3 Xq13.3 BRAF2 BRAFPS2 "v-raf murine sarcoma viral oncogene homolog B pseudogene 2|v-raf murine sarcoma viral oncogene homolog B pseudogene 1" 2003-07-21 2011-04-28 2014-06-26 2016-11-30 286494 ENSG00000224775 OTTHUMG00000021868 NG_003108 "1630826|19107232|25843629" 300956 PGOHUM00000305160 HGNC:18615 HGNC:1099 BRAP BRCA1 associated protein protein-coding gene gene with protein product Approved 12q24.12 12q24.12 "BRAP2|RNF52|IMP" "impedes mitogenic signal propagation|galectin-2-binding protein" Ring finger proteins 58 1998-09-17 2023-01-20 8315 ENSG00000089234 OTTHUMG00000169600 uc001tsn.4 AF035620 NM_006768 CCDS9154 Q7Z569 "9497340|19198608" MGI:1919649 RGD:1586551 604986 HGNC:1099 "ENST00000419234.9|NM_006768.5" HGNC:21701 BRAT1 BRCA1 associated ATM activator 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 MGC22916 BRCA1-associated protein required for ATM activation protein 1 "C7orf27|BAAT1" "chromosome 7 open reading frame 27|BRCA1-associated ATM activator 1" 2003-07-14 2011-03-22 2016-02-03 2023-01-20 221927 ENSG00000106009 OTTHUMG00000119091 uc003smi.4 BC015632 NM_152743 CCDS5334 Q6PJG6 16452482 MGI:1891679 RGD:1565146 614506 444663 HGNC:21701 "ENST00000340611.9|NM_152743.4" HGNC:21701 -HGNC:1100 BRCA1 BRCA1 DNA repair associated protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RNF53|BRCC1|PPP1R53|FANCS" "BRCA1/BRCA2-containing complex, subunit 1|protein phosphatase 1, regulatory subunit 53|Fanconi anemia, complementation group S" "breast cancer 1, early onset|breast cancer 1" "Ring finger proteins|FA complementation groups|Protein phosphatase 1 regulatory subunits|BRCA1 A complex|BRCA1 B complex|BRCA1 C complex" "58|548|694|1328|1335|1336" 1991-02-20 2019-01-22 2023-03-15 672 ENSG00000012048 OTTHUMG00000157426 uc002ict.4 U14680 NM_007294 "CCDS11455|CCDS11456|CCDS11454|CCDS11453|CCDS11459" P38398 "1676470|25472942" MGI:104537 RGD:2218 "Breast Cancer|http://research.nhgri.nih.gov/bic/|Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|BRCA1 database at LOVD-China|http://genomed.org/LOVD/BC/home.php?select_db=BRCA1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BRCA1|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/BRCA1|LRG_292|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_292.xml" BRCA1 113705 119068 HGNC:1100 "ENST00000357654.9|NM_007294.4" HGNC:1100 +HGNC:1100 BRCA1 BRCA1 DNA repair associated protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RNF53|BRCC1|PPP1R53|FANCS" "BRCA1/BRCA2-containing complex, subunit 1|protein phosphatase 1, regulatory subunit 53|Fanconi anemia, complementation group S" "breast cancer 1, early onset|breast cancer 1" "Ring finger proteins|FA complementation groups|Protein phosphatase 1 regulatory subunits|BRCA1 A complex|BRCA1 B complex|BRCA1 C complex" "58|548|694|1328|1335|1336" 1991-02-20 2019-01-22 2023-03-15 672 ENSG00000012048 OTTHUMG00000157426 uc002ict.4 U14680 NM_007294 "CCDS11456|CCDS11453|CCDS11459|CCDS11454|CCDS11455" P38398 "1676470|25472942" MGI:104537 RGD:2218 "Breast Cancer|http://research.nhgri.nih.gov/bic/|Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|BRCA1 database at LOVD-China|http://genomed.org/LOVD/BC/home.php?select_db=BRCA1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BRCA1|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/BRCA1|LRG_292|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_292.xml" BRCA1 113705 119068 HGNC:1100 "ENST00000357654.9|NM_007294.4" HGNC:1100 HGNC:28470 BRCA1P1 BRCA1 pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 "LBRCA1|PsiBRCA1|pseudo-BRCA1" like-BRCA1 2005-05-26 2020-04-07 394269 ENSG00000267595 NG_003183 "11880951|8954804|10205276" HGNC:28470 HGNC:1101 BRCA2 BRCA2 DNA repair associated protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "FAD|FAD1|BRCC2|XRCC11" BRCA1/BRCA2-containing complex, subunit 2 "FANCD1|FACD|FANCD" "Fanconi anemia, complementation group D1|breast cancer 2, early onset|breast cancer 2" FA complementation groups 548 1994-10-17 2019-01-22 2023-01-20 675 ENSG00000139618 OTTHUMG00000017411 uc001uub.2 U43746 NM_000059 CCDS9344 P51587 "8091231|7581463|15057823" MGI:109337 RGD:2219 "Breast Cancer|http://research.nhgri.nih.gov/bic/|Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|BRCA1 database at LOVD-China|http://genomed.org/LOVD/BC/home.php?select_db=BRCA2|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BRCA2|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/BRCA2|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCD1|LRG_293|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_293.xml" BRCA2 600185 119072 HGNC:1101 "ENST00000380152.8|NM_000059.4" HGNC:1101 -HGNC:24185 BRCC3 BRCA1/BRCA2-containing complex subunit 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "C6.1A|BRCC36" Lys-63-specific deubiquitinase CXorf53 "chromosome X open reading frame 53|BRCA1/BRCA2-containing complex, subunit 3" "JAMM/MPN+ metallopeptidase family|BRCA1 A complex|BRISC complex" "999|1328|1375" 2004-12-03 2005-11-21 2015-11-12 2023-01-20 79184 ENSG00000185515 OTTHUMG00000022658 uc065cjq.1 X64643 NM_024332 "CCDS56612|CCDS56610|CCDS56611" P46736 "1303175|14636569" MGI:2389572 RGD:1588543 300617 268795 M67.004 HGNC:24185 "ENST00000330045.12|NM_001018055.3" HGNC:24185 +HGNC:24185 BRCC3 BRCA1/BRCA2-containing complex subunit 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "C6.1A|BRCC36" Lys-63-specific deubiquitinase CXorf53 "chromosome X open reading frame 53|BRCA1/BRCA2-containing complex, subunit 3" "JAMM/MPN+ metallopeptidase family|BRCA1 A complex|BRISC complex" "999|1328|1375" 2004-12-03 2005-11-21 2015-11-12 2023-01-20 79184 ENSG00000185515 OTTHUMG00000022658 uc065cjq.1 X64643 NM_024332 "CCDS56610|CCDS56611|CCDS56612" P46736 "1303175|14636569" MGI:2389572 RGD:1588543 300617 268795 M67.004 HGNC:24185 "ENST00000330045.12|NM_001018055.3" HGNC:24185 HGNC:51444 BRCC3P1 BRCA1/BRCA2-containing complex subunit 3 pseudogene 1 pseudogene pseudogene Approved 5q35.2 05q35.2 BRCA1/BRCA2-containing complex, subunit 3 pseudogene 1 2014-11-26 2015-11-12 2015-11-12 100421311 ENSG00000251667 OTTHUMG00000163184 NG_024746 PGOHUM00000301193 HGNC:51444 -HGNC:1102 BRD1 bromodomain containing 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "BRL|BRPF2" BR140-like bromodomain-containing 1 "PHD finger proteins|PWWP domain containing|Bromodomain containing" "88|1147|1232" 1999-10-29 2002-01-14 2023-01-20 23774 ENSG00000100425 OTTHUMG00000150288 uc032qrr.2 AF005067 NM_014577 "CCDS14080|CCDS77686" O95696 "10591208|10602503" MGI:1924161 RGD:1311855 604589 objectId:2724 HGNC:1102 "ENST00000404760.6|NM_001304808.3" -HGNC:1103 BRD2 bromodomain containing 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "KIAA9001|RING3|D6S113E|NAT|FSHRG1" "really interesting new gene 3|female sterile homeotic related gene 1" BRD2-IT1 "bromodomain-containing 2|BRD2 intronic transcript 1" "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 2000-07-25 2002-01-14 2023-03-15 6046 ENSG00000204256 OTTHUMG00000031241 uc003ocn.4 X96670 NM_001113182 "CCDS56420|CCDS4762" P25440 "1352711|8781126" MGI:99495 RGD:1303324 601540 470008 objectId:1944 HGNC:1103 "ENST00000374825.9|NM_005104.4" +HGNC:1102 BRD1 bromodomain containing 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "BRL|BRPF2" BR140-like bromodomain-containing 1 "PHD finger proteins|PWWP domain containing|Bromodomain containing" "88|1147|1232" 1999-10-29 2002-01-14 2023-01-20 23774 ENSG00000100425 OTTHUMG00000150288 uc032qrr.2 AF005067 NM_014577 "CCDS77686|CCDS14080" O95696 "10591208|10602503" MGI:1924161 RGD:1311855 604589 objectId:2724 HGNC:1102 "ENST00000404760.6|NM_001304808.3" +HGNC:1103 BRD2 bromodomain containing 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "KIAA9001|RING3|D6S113E|NAT|FSHRG1" "really interesting new gene 3|female sterile homeotic related gene 1" BRD2-IT1 "bromodomain-containing 2|BRD2 intronic transcript 1" "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 2000-07-25 2002-01-14 2023-03-15 6046 ENSG00000204256 OTTHUMG00000031241 uc003ocn.4 X96670 NM_001113182 "CCDS4762|CCDS56420" P25440 "1352711|8781126" MGI:99495 RGD:1303324 601540 470008 objectId:1944 HGNC:1103 "ENST00000374825.9|NM_005104.4" HGNC:1104 BRD3 bromodomain containing 3 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "RING3L|ORFX|KIAA0043|FSHRG2" "RING3-like|female sterile homeotic related gene 2" bromodomain-containing 3 "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 2000-07-25 2002-01-14 2023-03-07 8019 ENSG00000169925 OTTHUMG00000021004 uc004cew.4 NM_007371 CCDS6980 Q15059 "7584044|8781126" MGI:1914632 RGD:1308925 BRD3 601541 470010 objectId:2725 HGNC:1104 "ENST00000303407.12|NM_007371.4" HGNC:24742 BRD3OS BRD3 opposite strand protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "FLJ35348|bA374P20.3|SERLOC" Super enhancer and ERK1/2 Regulated Long Intergenic non-protein coding transcript Overexpressed in Carcinomas "NCRNA00094|LINC00094" "non-protein coding RNA 94|long intergenic non-protein coding RNA 94" 2008-09-03 2017-08-11 2017-08-11 2023-01-20 266655 ENSG00000235106 OTTHUMG00000020880 uc064wwq.1 AK092667 NM_001355256 CCDS87707 A0A1B0GUI7 36010973 MGI:106557 RGD:6492996 LINC00094 HGNC:24742 "ENST00000603928.3|NM_001355256.2" -HGNC:13575 BRD4 bromodomain containing 4 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "HUNKI|MCAP|CAP|HUNK1|FSHRG4" "mitotic chromosome-associated protein|chromosome-associated protein|female sterile homeotic related gene 4" bromodomain-containing 4 "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 2000-09-26 2002-01-14 2023-03-07 23476 ENSG00000141867 OTTHUMG00000183252 uc002nar.4 Y12059 NM_058243 "CCDS12328|CCDS46004|CCDS82307" O60885 "10938129|17329240" MGI:1888520 RGD:1307282 BRD4 608749 449868 objectId:1945 HGNC:13575 "ENST00000679869.1|NM_001379291.1" HGNC:13575 -HGNC:14310 BRD7 bromodomain containing 7 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "CELTIX1|BP75|SMARCI1" bromodomain-containing 7 "Bromodomain containing|PBAF complex" "1232|1605" 2001-01-02 2002-01-14 2023-01-20 29117 ENSG00000166164 OTTHUMG00000133170 uc021thx.2 AF213969 NM_013263 "CCDS10742|CCDS54007" Q9NPI1 "10526152|18809673" MGI:1349766 RGD:1309891 618489 objectId:2726 HGNC:14310 "ENST00000394688.8|NM_013263.5" +HGNC:13575 BRD4 bromodomain containing 4 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "HUNKI|MCAP|CAP|HUNK1|FSHRG4" "mitotic chromosome-associated protein|chromosome-associated protein|female sterile homeotic related gene 4" bromodomain-containing 4 "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 2000-09-26 2002-01-14 2023-03-07 23476 ENSG00000141867 OTTHUMG00000183252 uc002nar.4 Y12059 NM_058243 "CCDS46004|CCDS12328|CCDS82307" O60885 "10938129|17329240" MGI:1888520 RGD:1307282 BRD4 608749 449868 objectId:1945 HGNC:13575 "ENST00000679869.1|NM_001379291.1" HGNC:13575 +HGNC:14310 BRD7 bromodomain containing 7 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "CELTIX1|BP75|SMARCI1" bromodomain-containing 7 "Bromodomain containing|PBAF complex" "1232|1605" 2001-01-02 2002-01-14 2023-01-20 29117 ENSG00000166164 OTTHUMG00000133170 uc021thx.2 AF213969 NM_013263 "CCDS54007|CCDS10742" Q9NPI1 "10526152|18809673" MGI:1349766 RGD:1309891 618489 objectId:2726 HGNC:14310 "ENST00000394688.8|NM_013263.5" HGNC:19923 BRD7P1 bromodomain containing 7 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 BRD7P bromodomain containing 7 pseudogene 2003-01-13 2009-11-25 2009-11-25 2020-04-20 100288948 ENSG00000259043 OTTHUMG00000170674 NG_022855 PGOHUM00000248110 HGNC:19923 HGNC:33541 BRD7P2 bromodomain containing 7 pseudogene 2 pseudogene pseudogene Approved 3q25.33 03q25.33 2007-07-25 2014-11-18 647076 ENSG00000184100 OTTHUMG00000158952 NG_009641 PGOHUM00000238245 HGNC:33541 HGNC:24171 BRD7P3 bromodomain containing 7 pseudogene 3 pseudogene pseudogene Approved 6q22.31 06q22.31 2007-07-25 2020-04-07 23629 ENSG00000169075 OTTHUMG00000015463 NR_002730 PGOHUM00000301927 HGNC:24171 @@ -2643,13 +2643,13 @@ HGNC:37630 BRD7P4 bromodomain containing 7 pseudogene 4 pseudogene pseudogene Ap HGNC:37631 BRD7P5 bromodomain containing 7 pseudogene 5 pseudogene pseudogene Approved 13q32.1 13q32.1 2009-11-26 2014-11-19 100129259 ENSG00000235768 OTTHUMG00000017211 NG_009642 PGOHUM00000248464 HGNC:37631 HGNC:37632 BRD7P6 bromodomain containing 7 pseudogene 6 pseudogene pseudogene Approved 2p13.3 02p13.3 2009-11-26 2014-11-19 100128042 ENSG00000235289 OTTHUMG00000153163 NG_016161 PGOHUM00000240674 HGNC:37632 HGNC:56471 BRD7P7 BRD7 pseudogene 7 pseudogene pseudogene Approved 3q13.13 03q13.13 2022-10-20 2022-10-20 100419877 ENSG00000239288 NG_025724 PGOHUM00000299531 -HGNC:19874 BRD8 bromodomain containing 8 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "SMAP|p120" "Bromodomain containing|Tip60/Nua4 histone acetyltransferase complex subunits" "1232|1634" 2003-02-07 2023-01-20 10902 ENSG00000112983 OTTHUMG00000129204 uc003lcf.2 AF016270 NM_006696 "CCDS54907|CCDS4198|CCDS34241" Q9H0E9 "8611617|9368056" MGI:1925906 RGD:1307003 602848 objectId:2727 HGNC:19874 "ENST00000254900.10|NM_139199.2" -HGNC:25818 BRD9 bromodomain containing 9 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FLJ13441|SMARCI2" "Bromodomain containing|BAF complex|GBAF complex" "1232|1604|1606" 2004-01-08 2023-01-20 65980 ENSG00000028310 OTTHUMG00000159258 uc003jbq.4 AK023503 NM_023924 "CCDS34127|CCDS34128" Q9H8M2 26365797 MGI:2145317 RGD:1307359 618465 objectId:2728 HGNC:25818 "ENST00000467963.6|NM_023924.5" +HGNC:19874 BRD8 bromodomain containing 8 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "SMAP|p120" "Bromodomain containing|Tip60/Nua4 histone acetyltransferase complex subunits" "1232|1634" 2003-02-07 2023-01-20 10902 ENSG00000112983 OTTHUMG00000129204 uc003lcf.2 AF016270 NM_006696 "CCDS54907|CCDS34241|CCDS4198" Q9H0E9 "8611617|9368056" MGI:1925906 RGD:1307003 602848 objectId:2727 HGNC:19874 "ENST00000254900.10|NM_139199.2" +HGNC:25818 BRD9 bromodomain containing 9 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FLJ13441|SMARCI2" "Bromodomain containing|BAF complex|GBAF complex" "1232|1604|1606" 2004-01-08 2023-01-20 65980 ENSG00000028310 OTTHUMG00000159258 uc003jbq.4 AK023503 NM_023924 "CCDS34128|CCDS34127" Q9H8M2 26365797 MGI:2145317 RGD:1307359 618465 objectId:2728 HGNC:25818 "ENST00000467963.6|NM_023924.5" HGNC:51445 BRD9P1 bromodomain containing 9 pseudogene 1 pseudogene pseudogene Approved 11q13.2 11q13.2 2014-11-26 2014-11-26 106481721 ENSG00000254736 OTTHUMG00000166923 NG_043387 PGOHUM00000291008 HGNC:51445 HGNC:51446 BRD9P2 bromodomain containing 9 pseudogene 2 pseudogene pseudogene Approved 5p15.33 05p15.33 2014-11-26 2014-11-26 109729114 ENSG00000249908 OTTHUMG00000162147 NG_068470 PGOHUM00000300474 -HGNC:1105 BRDT bromodomain testis associated protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "BRD6|CT9|BRDt" cancer/testis antigen 9 bromodomain, testis-specific "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 1997-08-15 2016-03-03 2023-03-15 676 ENSG00000137948 OTTHUMG00000010113 uc001dol.5 AF019085 NM_207189 "CCDS735|CCDS55615|CCDS55616" Q58F21 9367677 MGI:1891374 RGD:1306678 602144 objectId:2729 HGNC:1105 "ENST00000399546.7|NM_207189.4" +HGNC:1105 BRDT bromodomain testis associated protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "BRD6|CT9|BRDt" cancer/testis antigen 9 bromodomain, testis-specific "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 1997-08-15 2016-03-03 2023-03-15 676 ENSG00000137948 OTTHUMG00000010113 uc001dol.5 AF019085 NM_207189 "CCDS735|CCDS55616|CCDS55615" Q58F21 9367677 MGI:1891374 RGD:1306678 602144 objectId:2729 HGNC:1105 "ENST00000399546.7|NM_207189.4" HGNC:51447 BRDTP1 bromodomain testis associated pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 bromodomain, testis-specific pseudogene 1 2014-11-26 2016-03-03 2016-03-03 643486 ENSG00000271209 OTTHUMG00000185081 NR_003539 PGOHUM00000304766 HGNC:51447 -HGNC:11551 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "TFIIIB90|BRF|hBRF" "TAF3B2|TAF3C|GTF3B" "TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2|BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)|BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit" "General transcription factors|General transcription factor IIIB complex subunits " "565|1879" 1998-08-20 2001-12-07 2019-01-22 2023-01-20 2972 ENSG00000185024 OTTHUMG00000029884 uc010axg.2 U28838 NM_001519 "CCDS10001|CCDS55949|CCDS55950|CCDS55952|CCDS55953|CCDS55951|CCDS42001" Q92994 "7624363|8943358" MGI:1919558 RGD:1311158 604902 448647 HGNC:11551 "ENST00000547530.7|NM_001519.4" HGNC:11551 +HGNC:11551 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "TFIIIB90|BRF|hBRF" "TAF3B2|TAF3C|GTF3B" "TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2|BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)|BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit" "General transcription factors|General transcription factor IIIB complex subunits " "565|1879" 1998-08-20 2001-12-07 2019-01-22 2023-01-20 2972 ENSG00000185024 OTTHUMG00000029884 uc010axg.2 U28838 NM_001519 "CCDS55953|CCDS42001|CCDS10001|CCDS55952|CCDS55950|CCDS55951|CCDS55949" Q92994 "7624363|8943358" MGI:1919558 RGD:1311158 604902 448647 HGNC:11551 "ENST00000547530.7|NM_001519.4" HGNC:11551 HGNC:17298 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "FLJ11052|BRFU|TFIIIB50" "BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like|BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit" 2001-11-30 2019-01-22 2023-01-20 55290 ENSG00000104221 OTTHUMG00000164025 uc003xkk.4 AF298153 NM_018310 CCDS6098 Q9HAW0 "11483580|11564744" MGI:1913903 RGD:1308817 607013 HGNC:17298 "ENST00000220659.11|NM_018310.4" HGNC:1109 BRI3 brain protein I3 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 2000-02-25 2023-01-20 25798 ENSG00000164713 OTTHUMG00000154275 uc003upi.3 AF106966 NM_015379 "CCDS55133|CCDS5656" O95415 14592447 MGI:1933174 RGD:1309187 615628 HGNC:1109 "ENST00000297290.4|NM_015379.5" HGNC:14251 BRI3BP BRI3 binding protein protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "BNAS1|KG19|HCCR-2|HCCRBP-3" 2002-01-03 2023-01-20 140707 ENSG00000184992 OTTHUMG00000168548 uc001uha.2 AF284094 NM_080626 CCDS9262 Q8WY22 "11860200|17765869" MGI:1924059 RGD:1561711 615627 HGNC:14251 "ENST00000341446.9|NM_080626.6" @@ -2668,17 +2668,17 @@ HGNC:51527 BRIX1P1 BRIX1 pseudogene 1 pseudogene pseudogene Approved 8q11.22 08q HGNC:23057 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "MDS027|HSPC300" "haematopoietic stem/progenitor cell protein 300|BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog (Arabidopsis thaliana)" C3orf10 "chromosome 3 open reading frame 10|BRICK1, SCAR/WAVE actin-nucleating complex subunit|BRICK1, SCAR/WAVE actin nucleating complex subunit" SCAR/WAVE complex 1793 2004-02-26 2011-06-07 2019-02-07 2023-01-20 55845 ENSG00000254999 OTTHUMG00000155400 uc003bvb.4 AF161418 NM_018462 CCDS54553 Q8WUW1 14695531 MGI:1915406 RGD:1598136 611183 HGNC:23057 "ENST00000530758.2|NM_018462.5" HGNC:42020 BRK1P1 BRICK1 pseudogene 1 pseudogene pseudogene Approved Xp22.31 Xp22.31 2019-02-07 2019-02-07 100288031 ENSG00000219870 OTTHUMG00000021113 NG_030299 HGNC:42020 HGNC:42021 BRK1P2 BRK1 pseudogene 2 pseudogene pseudogene Approved 13q31.3 13q31.3 BRICK1, SCAR/WAVE actin-nucleating complex subunit pseudogene 2 2011-08-15 2019-01-18 2019-01-18 100874492 ENSG00000227983 OTTHUMG00000017186 NG_032391 PGOHUM00000257957 HGNC:42021 -HGNC:28153 BRME1 break repair meiotic recombinase recruitment factor 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "MGC11271|MEIOK21" "BRCA2 and MEILB2-associating protein 1|meiosis-specific 4930432K21RIK" C19orf57 chromosome 19 open reading frame 57 2006-08-21 2020-08-19 2020-08-19 2023-01-20 79173 ENSG00000132016 OTTHUMG00000181851 uc002mxl.2 BC012945 NM_024323 "CCDS92536|CCDS12299|CCDS92535" Q0VDD7 "32345962|32460033|32463460|32845237" MGI:1921916 RGD:1306072 619276 HGNC:28153 "ENST00000586783.6|NM_001345843.2" -HGNC:17262 BRMS1 BRMS1 transcriptional repressor and anoikis regulator protein-coding gene gene with protein product Approved 11q13.2 11q13.2 DKFZP564A063 breast cancer metastasis suppressor 1 2003-12-02 2019-01-22 2023-01-20 25855 ENSG00000174744 OTTHUMG00000167081 uc001ohp.2 AF147350 NM_015399 "CCDS44654|CCDS8135" Q9HCU9 10850410 MGI:2388804 RGD:1311057 606259 HGNC:17262 "ENST00000359957.8|NM_015399.4" +HGNC:28153 BRME1 break repair meiotic recombinase recruitment factor 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "MGC11271|MEIOK21" "BRCA2 and MEILB2-associating protein 1|meiosis-specific 4930432K21RIK" C19orf57 chromosome 19 open reading frame 57 2006-08-21 2020-08-19 2020-08-19 2023-01-20 79173 ENSG00000132016 OTTHUMG00000181851 uc002mxl.2 BC012945 NM_024323 "CCDS92535|CCDS12299|CCDS92536" Q0VDD7 "32345962|32460033|32463460|32845237" MGI:1921916 RGD:1306072 619276 HGNC:28153 "ENST00000586783.6|NM_001345843.2" +HGNC:17262 BRMS1 BRMS1 transcriptional repressor and anoikis regulator protein-coding gene gene with protein product Approved 11q13.2 11q13.2 DKFZP564A063 breast cancer metastasis suppressor 1 2003-12-02 2019-01-22 2023-01-20 25855 ENSG00000174744 OTTHUMG00000167081 uc001ohp.2 AF147350 NM_015399 "CCDS8135|CCDS44654" Q9HCU9 10850410 MGI:2388804 RGD:1311057 606259 HGNC:17262 "ENST00000359957.8|NM_015399.4" HGNC:20512 BRMS1L BRMS1 like transcriptional repressor protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "MGC11296|FLJ39177" BRMS1 "breast cancer metastasis-suppressor 1|breast cancer metastasis-suppressor 1 like" 2003-03-05 2003-12-03 2018-05-04 2023-01-20 84312 ENSG00000100916 OTTHUMG00000170559 uc001wtl.4 AK096496 NM_032352 CCDS32066 Q5PSV4 MGI:1196337 RGD:1306006 618514 HGNC:20512 "ENST00000216807.12|NM_032352.4" -HGNC:26512 BROX BRO1 domain and CAAX motif containing protein-coding gene gene with protein product Approved 1q41 01q41 FLJ32421 BRO1 domain containing protein C1orf58 chromosome 1 open reading frame 58 2005-05-13 2010-11-30 2010-11-30 2023-01-20 148362 ENSG00000162819 OTTHUMG00000037650 uc001hns.2 NM_144695 "CCDS73037|CCDS73036|CCDS1534" Q5VW32 18190528 MGI:1918928 RGD:1307161 HGNC:26512 "ENST00000340934.10|NM_144695.4" -HGNC:14255 BRPF1 bromodomain and PHD finger containing 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 BR140 "peregrin|bromodomain-containing protein, 140kD" bromodomain and PHD finger containing, 1 "PHD finger proteins|PWWP domain containing|Bromodomain containing" "88|1147|1232" 2000-12-14 2015-11-11 2023-01-20 7862 ENSG00000156983 OTTHUMG00000097033 uc062glp.1 M91585 NM_001003694 "CCDS82730|CCDS82729|CCDS33692|CCDS93197|CCDS2575" P55201 "8946209|7906940" MGI:1926033 RGD:1584828 602410 470012 objectId:2730 HGNC:14255 "ENST00000383829.7|NM_001003694.2" HGNC:14255 +HGNC:26512 BROX BRO1 domain and CAAX motif containing protein-coding gene gene with protein product Approved 1q41 01q41 FLJ32421 BRO1 domain containing protein C1orf58 chromosome 1 open reading frame 58 2005-05-13 2010-11-30 2010-11-30 2023-01-20 148362 ENSG00000162819 OTTHUMG00000037650 uc001hns.2 NM_144695 "CCDS73036|CCDS73037|CCDS1534" Q5VW32 18190528 MGI:1918928 RGD:1307161 HGNC:26512 "ENST00000340934.10|NM_144695.4" +HGNC:14255 BRPF1 bromodomain and PHD finger containing 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 BR140 "peregrin|bromodomain-containing protein, 140kD" bromodomain and PHD finger containing, 1 "PHD finger proteins|PWWP domain containing|Bromodomain containing" "88|1147|1232" 2000-12-14 2015-11-11 2023-01-20 7862 ENSG00000156983 OTTHUMG00000097033 uc062glp.1 M91585 NM_001003694 "CCDS2575|CCDS82730|CCDS82729|CCDS33692|CCDS93197" P55201 "8946209|7906940" MGI:1926033 RGD:1584828 602410 470012 objectId:2730 HGNC:14255 "ENST00000383829.7|NM_001003694.2" HGNC:14255 HGNC:14256 BRPF3 bromodomain and PHD finger containing 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 KIAA1286 bromodomain and PHD finger containing, 3 "PHD finger proteins|PWWP domain containing|Bromodomain containing" "88|1147|1232" 2000-12-14 2015-11-11 2023-01-20 27154 ENSG00000096070 OTTHUMG00000014589 uc003olv.5 AB033112 NM_015695 CCDS34437 Q9ULD4 10574462 MGI:2146836 RGD:1306868 616856 objectId:2731 HGNC:14256 "ENST00000357641.10|NM_015695.3" HGNC:55591 BRPF3-AS1 BRPF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 Antisense RNAs 1987 2021-04-28 2021-04-28 102723648 ENSG00000246982 XR_001744105 HGNC:1113 BRS3 bombesin receptor subtype 3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "BB3|BB3R|BBR3" bombesin like receptor 3 Bombesin receptors 222 1993-11-08 2016-06-07 2023-01-20 680 ENSG00000102239 OTTHUMG00000022726 uc004ezv.2 NM_001727 CCDS14656 P32247 8383682 MGI:1100501 RGD:628645 300107 objectId:40 HGNC:1113 "ENST00000370648.4|NM_001727.2" HGNC:18994 BRSK1 BR serine/threonine kinase 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "KIAA1811|SAD-B" brain selective kinase 1 BR serine/threonine kinases 2135 2005-01-12 2023-01-20 84446 ENSG00000160469 OTTHUMG00000180735 uc002qkg.4 AB058714 NM_032430 CCDS12921 Q8TDC3 14976552 MGI:2685946 RGD:1563268 609235 objectId:1946 HGNC:18994 "ENST00000309383.6|NM_032430.2" -HGNC:11405 BRSK2 BR serine/threonine kinase 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "PEN11B|SAD-A" "serine/threonine kinase 29|brain selective kinase 2" "C11orf7|STK29" chromsosome 11 open reading frame 7 BR serine/threonine kinases 2135 1999-12-17 2005-01-27 2003-09-11 2023-01-20 9024 ENSG00000174672 OTTHUMG00000167089 uc001ltj.5 AF020089 NM_003957 "CCDS58106|CCDS58108|CCDS58107|CCDS41590|CCDS60696" Q8IWQ3 "9852686|9929968" MGI:1923020 RGD:1566256 609236 objectId:1947 HGNC:11405 "ENST00000528841.6|NM_001256627.2" HGNC:11405 -HGNC:12760 BRWD1 bromodomain and WD repeat domain containing 1 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "FLJ11315|N143|DCAF19" "C21orf107|WDR9" "chromosome 21 open reading frame 107|WD repeat domain 9" "WD repeat domain containing|DDB1 and CUL4 associated factors|Bromodomain containing" "362|498|1232" 2000-05-23 2005-05-13 2005-05-13 2023-01-20 54014 ENSG00000185658 OTTHUMG00000066030 uc002yxk.3 AJ002572 NM_033656 "CCDS33557|CCDS13662|CCDS13663" Q9NSI6 MGI:1890651 RGD:1309030 617824 objectId:2732 HGNC:12760 "ENST00000342449.8|NM_033656.4" HGNC:12760 +HGNC:11405 BRSK2 BR serine/threonine kinase 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "PEN11B|SAD-A" "serine/threonine kinase 29|brain selective kinase 2" "C11orf7|STK29" chromsosome 11 open reading frame 7 BR serine/threonine kinases 2135 1999-12-17 2005-01-27 2003-09-11 2023-01-20 9024 ENSG00000174672 OTTHUMG00000167089 uc001ltj.5 AF020089 NM_003957 "CCDS60696|CCDS58108|CCDS58106|CCDS58107|CCDS41590" Q8IWQ3 "9852686|9929968" MGI:1923020 RGD:1566256 609236 objectId:1947 HGNC:11405 "ENST00000528841.6|NM_001256627.2" HGNC:11405 +HGNC:12760 BRWD1 bromodomain and WD repeat domain containing 1 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "FLJ11315|N143|DCAF19" "C21orf107|WDR9" "chromosome 21 open reading frame 107|WD repeat domain 9" "WD repeat domain containing|DDB1 and CUL4 associated factors|Bromodomain containing" "362|498|1232" 2000-05-23 2005-05-13 2005-05-13 2023-01-20 54014 ENSG00000185658 OTTHUMG00000066030 uc002yxk.3 AJ002572 NM_033656 "CCDS13662|CCDS33557|CCDS13663" Q9NSI6 MGI:1890651 RGD:1309030 617824 objectId:2732 HGNC:12760 "ENST00000342449.8|NM_033656.4" HGNC:12760 HGNC:40614 BRWD1-AS1 BRWD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 BRWD1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2021-06-28 100874093 ENSG00000238141 OTTHUMG00000133705 uc031rvp.2 NR_046655 HGNC:40614 HGNC:16423 BRWD1-AS2 BRWD1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 "C21orf87|NCRNA00257|BRWD1-IT2" "chromosome 21 open reading frame 87|non-protein coding RNA 257|BRWD1 intronic transcript 2 (non-protein coding)" Antisense RNAs 1987 2001-08-24 2014-04-08 2014-04-08 2020-04-20 103091865 ENSG00000255568 OTTHUMG00000066154 AF426265 NR_111942 P59051 12036297 HGNC:16423 HGNC:41920 BRWD1-IT1 BRWD1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 BRWD1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-18 2015-02-25 2015-02-25 106480743 ENSG00000237373 OTTHUMG00000133692 uc062adn.1 BRWD1-IT1 @@ -2686,9 +2686,9 @@ HGNC:51528 BRWD1P1 bromodomain and WD repeat domain containing 1 pseudogene 1 ps HGNC:51529 BRWD1P2 bromodomain and WD repeat domain containing 1 pseudogene 2 pseudogene pseudogene Approved 12q21.33 12q21.33 2015-02-26 2015-02-26 100287505 ENSG00000258290 OTTHUMG00000169951 NG_030127 PGOHUM00000291426 HGNC:51529 HGNC:51530 BRWD1P3 bromodomain and WD repeat domain containing 1 pseudogene 3 pseudogene pseudogene Approved 7p21.1 07p21.1 2015-02-13 2015-02-13 106480688 ENSG00000232841 OTTHUMG00000152463 NG_043313 PGOHUM00000302058 HGNC:51530 HGNC:17342 BRWD3 bromodomain and WD repeat domain containing 3 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "FLJ38568|MRX93" "WD repeat domain containing|Bromodomain containing" "362|1232" 2005-01-07 2023-01-20 254065 ENSG00000165288 OTTHUMG00000021908 uc004edt.4 NM_153252 CCDS14447 Q6RI45 "15543602|16094372" MGI:3029414 RGD:1559445 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BRWD3 300553 159239 objectId:2775 HGNC:17342 "ENST00000373275.5|NM_153252.5" HGNC:17342 -HGNC:15832 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin protein-coding gene gene with protein product Approved 11q12.3 11q12.3 seipin "GNG3LG|SPG17" "spastic paraplegia 17 (Silver syndrome)|Berardinelli-Seip congenital lipodystrophy 2 (seipin)|BSCL2, seipin lipid droplet biogenesis associated" 2001-07-02 2019-01-25 2023-01-20 26580 ENSG00000168000 OTTHUMG00000150624 uc001nup.4 NM_032667 "CCDS8031|CCDS55769|CCDS44627|CCDS91493" Q96G97 "11479539|14981520" MGI:1298392 RGD:1308135 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_235|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_235.xml" 606158 119085 HGNC:15832 "ENST00000360796.10|NM_001122955.4" HGNC:15832 -HGNC:25501 BSDC1 BSD domain containing 1 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "FLJ10276|RP4-811H24.7" 2005-07-20 2023-01-20 55108 ENSG00000160058 OTTHUMG00000007588 uc001bvh.5 BX641056 NM_018045 "CCDS44101|CCDS44103|CCDS363|CCDS72752|CCDS44102" Q9NW68 12477932 MGI:1913466 RGD:1311622 617518 HGNC:25501 "ENST00000455895.7|NM_018045.8" -HGNC:1116 BSG basigin (Ok blood group) protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "EMMPRIN|CD147|EMPRIN" "Ok blood group|extracellular matrix metalloproteinase inducer|Tumor cell-derived collagenase stimulatory factor" OK basigin "Blood group antigens|CD molecules|I-set domain containing|Basigin family " "454|471|593|1669" 1993-10-25 2014-01-02 2023-01-20 682 ENSG00000172270 OTTHUMG00000177718 uc002loz.6 L10240 NM_001728 "CCDS12034|CCDS12033|CCDS58635" P35613 "8404035|7812975" MGI:88208 RGD:2220 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_816|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_816.xml" 109480 objectId:3127 CD147 HGNC:1116 "ENST00000333511.9|NM_001728.4" +HGNC:15832 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin protein-coding gene gene with protein product Approved 11q12.3 11q12.3 seipin "GNG3LG|SPG17" "spastic paraplegia 17 (Silver syndrome)|Berardinelli-Seip congenital lipodystrophy 2 (seipin)|BSCL2, seipin lipid droplet biogenesis associated" 2001-07-02 2019-01-25 2023-01-20 26580 ENSG00000168000 OTTHUMG00000150624 uc001nup.4 NM_032667 "CCDS8031|CCDS44627|CCDS55769|CCDS91493" Q96G97 "11479539|14981520" MGI:1298392 RGD:1308135 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_235|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_235.xml" 606158 119085 HGNC:15832 "ENST00000360796.10|NM_001122955.4" HGNC:15832 +HGNC:25501 BSDC1 BSD domain containing 1 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "FLJ10276|RP4-811H24.7" 2005-07-20 2023-01-20 55108 ENSG00000160058 OTTHUMG00000007588 uc001bvh.5 BX641056 NM_018045 "CCDS72752|CCDS44101|CCDS44102|CCDS44103|CCDS363" Q9NW68 12477932 MGI:1913466 RGD:1311622 617518 HGNC:25501 "ENST00000455895.7|NM_018045.8" +HGNC:1116 BSG basigin (Ok blood group) protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "EMMPRIN|CD147|EMPRIN" "Ok blood group|extracellular matrix metalloproteinase inducer|Tumor cell-derived collagenase stimulatory factor" OK basigin "Blood group antigens|CD molecules|I-set domain containing|Basigin family " "454|471|593|1669" 1993-10-25 2014-01-02 2023-01-20 682 ENSG00000172270 OTTHUMG00000177718 uc002loz.6 L10240 NM_001728 "CCDS12033|CCDS58635|CCDS12034" P35613 "8404035|7812975" MGI:88208 RGD:2220 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_816|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_816.xml" 109480 objectId:3127 CD147 HGNC:1116 "ENST00000333511.9|NM_001728.4" HGNC:55286 BSG-AS1 BSG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Antisense RNAs 1987 2020-10-14 2020-10-14 105372233 ENSG00000267751 NR_184018 HGNC:1117 BSN bassoon presynaptic cytomatrix protein protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "zinc finger protein 231|neuronal double zinc finger protein" ZNF231 bassoon (presynaptic cytomatrix protein) Zinc fingers PCLO-type 2125 1999-01-07 2013-01-07 2023-01-20 8927 ENSG00000164061 OTTHUMG00000133750 uc003cxe.5 AF052224 NM_003458 CCDS2800 Q9UPA5 "9806829|10329005" MGI:1277955 RGD:2223 604020 HGNC:1117 "ENST00000296452.5|NM_003458.4" HGNC:40102 BSN-AS1 BSN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 BSN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 106478963 ENSG00000235120 OTTHUMG00000156880 uc062jvb.1 BSN-AS1 @@ -2704,11 +2704,11 @@ HGNC:1118 BST1 bone marrow stromal cell antigen 1 protein-coding gene gene with HGNC:1119 BST2 bone marrow stromal cell antigen 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "CD317|tetherin|BST-2|HM1.24" antiviral factor tetherin CD molecules 471 1994-11-17 2023-01-20 684 ENSG00000130303 OTTHUMG00000191770 uc060vid.1 NM_004335 CCDS12358 Q10589 7607676 MGI:1916800 RGD:727849 600534 CD317 HGNC:1119 "ENST00000252593.7|NM_004335.4" HGNC:20450 BSX brain specific homeobox protein-coding gene gene with protein product Approved 11q24.1 11q24.1 BSX1 NKL subclass homeoboxes and pseudogenes 519 2007-07-09 2015-11-23 2023-01-20 390259 ENSG00000188909 OTTHUMG00000150247 uc010rzs.3 NM_001098169 CCDS41728 Q3C1V8 MGI:2669849 RGD:1565120 611074 8533 HGNC:20450 "ENST00000343035.3|NM_001098169.2" HGNC:17307 BTAF1 B-TFIID TATA-box binding protein associated factor 1 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 "TAFII170|TAF172|MOT1|TAF-172|TAF(II)170" Mot1 homolog (S. cerevisiae) "BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)|BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa" Armadillo like helical domain containing 1492 2001-12-03 2015-11-20 2023-01-20 9044 ENSG00000095564 OTTHUMG00000018752 uc001khr.4 AJ001017 NM_003972 CCDS7419 O14981 "9342322|9488487" MGI:2147538 RGD:1564130 605191 HGNC:17307 "ENST00000265990.12|NM_003972.3" -HGNC:1120 BTBD1 BTB domain containing 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 BTB (POZ) domain containing 1 BTB domain containing 861 2000-05-02 2016-02-12 2023-01-20 53339 ENSG00000064726 OTTHUMG00000147364 uc002bjn.4 AF355402 NM_001011885 "CCDS10322|CCDS32313" Q9H0C5 MGI:1933765 RGD:1310962 608530 HGNC:1120 "ENST00000261721.9|NM_025238.4" +HGNC:1120 BTBD1 BTB domain containing 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 BTB (POZ) domain containing 1 BTB domain containing 861 2000-05-02 2016-02-12 2023-01-20 53339 ENSG00000064726 OTTHUMG00000147364 uc002bjn.4 AF355402 NM_001011885 "CCDS32313|CCDS10322" Q9H0C5 MGI:1933765 RGD:1310962 608530 HGNC:1120 "ENST00000261721.9|NM_025238.4" HGNC:15504 BTBD2 BTB domain containing 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 BTB (POZ) domain containing 2 BTB domain containing 861 2001-04-05 2016-02-12 2023-01-20 55643 ENSG00000133243 OTTHUMG00000180017 uc002lup.2 AF355797 NM_017797 CCDS12078 Q9BX70 11179693 MGI:1933831 RGD:1566094 608531 HGNC:15504 "ENST00000255608.9|NM_017797.4" -HGNC:15854 BTBD3 BTB domain containing 3 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "KIAA0952|dJ742J24.1" BTB (POZ) domain containing 3 BTB domain containing 861 2001-06-21 2016-02-12 2023-01-20 22903 ENSG00000132640 OTTHUMG00000031889 uc002wny.5 AB023169 NM_001282550 "CCDS13114|CCDS13113" Q9Y2F9 MGI:2385155 RGD:1311623 615566 HGNC:15854 "ENST00000378226.7|NM_014962.4" +HGNC:15854 BTBD3 BTB domain containing 3 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "KIAA0952|dJ742J24.1" BTB (POZ) domain containing 3 BTB domain containing 861 2001-06-21 2016-02-12 2023-01-20 22903 ENSG00000132640 OTTHUMG00000031889 uc002wny.5 AB023169 NM_001282550 "CCDS13113|CCDS13114" Q9Y2F9 MGI:2385155 RGD:1311623 615566 HGNC:15854 "ENST00000378226.7|NM_014962.4" HGNC:40728 BTBD3-AS1 BTBD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 Antisense RNAs 1987 2021-06-30 2021-06-30 121832811 ENSG00000236526 OTTHUMG00000031890 -HGNC:19897 BTBD6 BTB domain containing 6 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 BDPL BTB (POZ) domain containing 6 BTB domain containing 861 2002-12-03 2016-02-12 2023-01-20 90135 ENSG00000184887 OTTHUMG00000029887 uc059fzp.1 AF353674 NM_001387567 "CCDS10002|CCDS91955" Q96KE9 MGI:3026623 RGD:1597323 HGNC:19897 "ENST00000392554.8|NM_001387567.1" +HGNC:19897 BTBD6 BTB domain containing 6 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 BDPL BTB (POZ) domain containing 6 BTB domain containing 861 2002-12-03 2016-02-12 2023-01-20 90135 ENSG00000184887 OTTHUMG00000029887 uc059fzp.1 AF353674 NM_001387567 "CCDS91955|CCDS10002" Q96KE9 MGI:3026623 RGD:1597323 HGNC:19897 "ENST00000392554.8|NM_001387567.1" HGNC:51542 BTBD6P1 BTB domain containing 6 pseudogene 1 pseudogene pseudogene Approved 1p36.11 01p36.11 BTB (POZ) domain containing 6 pseudogene 1 2015-02-26 2016-02-12 2016-02-12 646330 ENSG00000229106 OTTHUMG00000013894 NG_011624 PGOHUM00000295588 HGNC:51542 HGNC:18269 BTBD7 BTB domain containing 7 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "FLJ10648|FUP1" BTB (POZ) domain containing 7 BTB domain containing 861 2003-12-10 2016-02-12 2023-01-20 55727 ENSG00000011114 OTTHUMG00000171269 uc001ybo.5 AB040958 NM_001002860 "CCDS32147|CCDS32146|CCDS73684" Q9P203 "10819331|11527404" MGI:1917858 RGD:1306262 610386 HGNC:18269 "ENST00000334746.10|NM_001002860.4" HGNC:44875 BTBD7P1 BTB domain containing 7 pseudogene 1 pseudogene pseudogene Approved 10p13 10p13 BTB (POZ) domain containing 7 pseudogene 1 2012-12-10 2016-02-12 2016-02-12 441548 ENSG00000203414 OTTHUMG00000017686 NG_022140 PGOHUM00000238354 HGNC:44875 @@ -2716,7 +2716,7 @@ HGNC:44876 BTBD7P2 BTB domain containing 7 pseudogene 2 pseudogene pseudogene Ap HGNC:21019 BTBD8 BTB domain containing 8 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 APache KIAA1107 "BTB (POZ) domain containing 8|KIAA1107" BTB domain containing 861 2004-04-02 2016-02-12 2023-03-15 284697 ENSG00000189195 OTTHUMG00000191888 uc001doo.5 AY346333 NM_183242 "CCDS91000|CCDS44172" Q5XKL5 "14654994|29262337" MGI:3646208 RGD:2321418 617945 HGNC:21019 "ENST00000636805.2|NM_001376131.1" HGNC:21228 BTBD9 BTB domain containing 9 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "KIAA1880|dJ322I12.1" BTB (POZ) domain containing 9 BTB domain containing 861 2003-05-29 2016-02-12 2023-01-20 114781 ENSG00000183826 OTTHUMG00000014634 uc010jwx.4 NM_152733 "CCDS43458|CCDS47418|CCDS54998" Q96Q07 11572484 MGI:1916625 RGD:1306975 611237 HGNC:21228 "ENST00000481247.6|NM_001099272.2" HGNC:40959 BTBD9-AS1 BTBD9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 BTBD9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-04 2012-08-15 2020-04-20 101929425 ENSG00000226533 OTTHUMG00000014632 uc063ohe.1 NR_144472 BTBD9-AS1 HGNC:40959 -HGNC:21445 BTBD10 BTB domain containing 10 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "GMRP1|GMRP-1|MGC13007" BTB (POZ) domain containing 10 BTB domain containing 861 2005-08-12 2016-02-12 2023-01-20 84280 ENSG00000148925 OTTHUMG00000165787 uc001mkz.4 AY221959 NM_032320 "CCDS7811|CCDS73261|CCDS76388" Q9BSF8 15556295 MGI:1916065 RGD:1306301 615933 HGNC:21445 "ENST00000278174.10|NM_032320.7" +HGNC:21445 BTBD10 BTB domain containing 10 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "GMRP1|GMRP-1|MGC13007" BTB (POZ) domain containing 10 BTB domain containing 861 2005-08-12 2016-02-12 2023-01-20 84280 ENSG00000148925 OTTHUMG00000165787 uc001mkz.4 AY221959 NM_032320 "CCDS73261|CCDS76388|CCDS7811" Q9BSF8 15556295 MGI:1916065 RGD:1306301 615933 HGNC:21445 "ENST00000278174.10|NM_032320.7" HGNC:51540 BTBD10P1 BTB domain containing 10 pseudogene 1 pseudogene pseudogene Approved 12q13.13 12q13.13 BTB (POZ) domain containing 10 pseudogene 1 2015-02-26 2016-02-12 2016-02-12 100128678 ENSG00000257675 OTTHUMG00000169767 NG_021719 PGOHUM00000291668 HGNC:51540 HGNC:51541 BTBD10P2 BTB domain containing 10 pseudogene 2 pseudogene pseudogene Approved 6q25.1 06q25.1 BTB (POZ) domain containing 10 pseudogene 2 2015-02-26 2016-02-12 2016-02-12 100420401 ENSG00000219433 OTTHUMG00000015797 NG_025984 PGOHUM00000301982 HGNC:51541 HGNC:26340 BTBD16 BTB domain containing 16 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "FLJ25359|Em:AC061711.1" C10orf87 "chromosome 10 open reading frame 87|BTB (POZ) domain containing 16" BTB domain containing 861 2004-03-16 2006-07-04 2016-02-12 2023-01-20 118663 ENSG00000138152 OTTHUMG00000019182 uc001lgc.2 AK058088 NM_144587 CCDS31301 Q32M84 MGI:3045247 RGD:1311454 HGNC:26340 "ENST00000260723.6|NM_144587.5" @@ -2724,7 +2724,7 @@ HGNC:33758 BTBD17 BTB domain containing 17 protein-coding gene gene with protein HGNC:37214 BTBD18 BTB domain containing 18 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 BTB (POZ) domain containing 18 BTB domain containing 861 2009-09-08 2016-02-12 2023-01-20 643376 ENSG00000233436 OTTHUMG00000167203 uc010rjy.3 NM_001145101 CCDS44603 B2RXH4 MGI:3650217 RGD:2323370 HGNC:37214 "ENST00000422652.6|NM_001145101.3" HGNC:27145 BTBD19 BTB domain containing 19 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 BTB (POZ) domain containing 19 BTB domain containing 861 2009-10-01 2016-02-12 2023-03-15 149478 ENSG00000222009 OTTHUMG00000008493 uc010ole.1 NM_001136537 CCDS90937 C9JJ37 MGI:1925861 RGD:2320529 HGNC:27145 "ENST00000450269.6|NM_001136537.3" HGNC:1121 BTC betacellulin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 1994-07-21 2023-01-20 685 ENSG00000174808 OTTHUMG00000130107 uc003hig.3 S55606 NM_001316963 CCDS3566 P35070 "8439318|11522793" MGI:99439 RGD:620275 600345 ligandId:4873 HGNC:1121 "ENST00000395743.8|NM_001729.4" -HGNC:1122 BTD biotinidase protein-coding gene gene with protein product Approved 3p25.1 03p25.1 biotinase Vanin family 10 1994-03-30 2023-01-20 686 ENSG00000169814 OTTHUMG00000129861 uc003cah.5 AF018631 NM_000060 "CCDS87052|CCDS93220|CCDS93221|CCDS63565" P43251 8001986 MGI:1347001 RGD:1305316 609019 119092 3.5.1.12 HGNC:1122 "ENST00000643237.3|NM_001370658.1" HGNC:1122 +HGNC:1122 BTD biotinidase protein-coding gene gene with protein product Approved 3p25.1 03p25.1 biotinase Vanin family 10 1994-03-30 2023-01-20 686 ENSG00000169814 OTTHUMG00000129861 uc003cah.5 AF018631 NM_000060 "CCDS93221|CCDS87052|CCDS93220|CCDS63565" P43251 8001986 MGI:1347001 RGD:1305316 609019 119092 3.5.1.12 HGNC:1122 "ENST00000643237.3|NM_001370658.1" HGNC:1122 HGNC:1125 BTF3 basic transcription factor 3 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "BTF3a|BTF3b" NACB nascent-polypeptide-associated complex beta polypeptide 1993-09-28 2023-01-20 689 ENSG00000145741 OTTHUMG00000102031 uc003kcq.2 M90352 NM_001207 "CCDS4019|CCDS34185" P20290 "2320128|1386332|15716105" MGI:1202875 RGD:1308095 602542 HGNC:1125 "ENST00000380591.8|NM_001037637.2" HGNC:55211 BTF3-DT BTF3 divergent transcript non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 Divergent transcripts 1990 2020-08-21 2020-08-21 118568828 ENSG00000272525 HGNC:30547 BTF3L4 basic transcription factor 3 like 4 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 MGC23908 2005-05-26 2016-06-28 2023-01-20 91408 ENSG00000134717 OTTHUMG00000008960 uc001ctk.4 BC021004 NM_152265 "CCDS58001|CCDS44146|CCDS30713" Q96K17 20008835 MGI:1915312 RGD:1311774 HGNC:30547 "ENST00000313334.13|NM_152265.5" @@ -2753,39 +2753,39 @@ HGNC:55600 BTG1-DT BTG1 divergent transcript non-coding RNA RNA, long non-coding HGNC:37692 BTG1P1 BTG anti-proliferation factor 1 pseudogene 1 pseudogene pseudogene Approved 12p13.31 12p13.31 B-cell translocation gene 1 pseudogene 1 2010-01-14 2016-07-04 2016-07-04 100129641 ENSG00000256720 OTTHUMG00000168328 NG_016577 PGOHUM00000291536 HGNC:37692 HGNC:1131 BTG2 BTG anti-proliferation factor 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "PC3|TIS21|MGC126063|MGC126064|APRO1" "B-cell translocation gene 2|pheochromacytoma cell-3|NGF-inducible anti-proliferative protein PC3|nerve growth factor-inducible anti-proliferative" "BTG family, member 2|BTG family member 2" BTG/Tob family 1309 2000-02-29 2016-07-04 2023-01-20 7832 ENSG00000159388 OTTHUMG00000035834 uc001gzq.4 NM_006763 CCDS1437 P78543 8944033 MGI:108384 RGD:2225 601597 HGNC:1131 "ENST00000290551.5|NM_006763.3" HGNC:49452 BTG2-DT BTG2 divergent transcript non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 LINC01136 long intergenic non-protein coding RNA 1136 Divergent transcripts 1990 2013-12-03 2021-07-05 2021-07-05 2021-07-05 730227 ENSG00000233791 OTTHUMG00000035835 NR_034150 LINC01136 HGNC:49452 -HGNC:1132 BTG3 BTG anti-proliferation factor 3 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "ANA|tob55|APRO4|ANA/BTG3" "BTG family, member 3|BTG family member 3" BTG/Tob family 1309 2000-02-29 2016-07-04 2023-01-20 10950 ENSG00000154640 OTTHUMG00000074501 uc002ykk.4 D64110 NM_006806 "CCDS46636|CCDS13569" Q14201 9632145 MGI:109532 RGD:2226 605674 HGNC:1132 "ENST00000348354.7|NM_006806.5" +HGNC:1132 BTG3 BTG anti-proliferation factor 3 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "ANA|tob55|APRO4|ANA/BTG3" "BTG family, member 3|BTG family member 3" BTG/Tob family 1309 2000-02-29 2016-07-04 2023-01-20 10950 ENSG00000154640 OTTHUMG00000074501 uc002ykk.4 D64110 NM_006806 "CCDS13569|CCDS46636" Q14201 9632145 MGI:109532 RGD:2226 605674 HGNC:1132 "ENST00000348354.7|NM_006806.5" HGNC:53145 BTG3-AS1 BTG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 ASBEL antisense ncRNA in the ANA/BTG3 locus Antisense RNAs 1987 2017-04-12 2023-02-03 110806272 ENSG00000280594 OTTHUMG00000190270 NR_149073 "23419616|27791078" HGNC:53145 HGNC:51543 BTG3P1 BTG anti-proliferation factor 3 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 "BTG family, member 3 pseudogene 1|BTG family member 3 pseudogene 1" 2015-02-27 2016-07-04 2016-07-04 100419246 ENSG00000235334 OTTHUMG00000022361 NG_026879 PGOHUM00000305309 HGNC:51543 -HGNC:13862 BTG4 BTG anti-proliferation factor 4 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "PC3B|APRO3" "B-cell translocation gene 4|BTG family member 4" "BTG/Tob family|MicroRNA protein coding host genes" "1309|1691" 2000-11-15 2016-07-04 2023-01-20 54766 ENSG00000137707 OTTHUMG00000166718 uc001plj.4 AJ271351 NM_017589 "CCDS91585|CCDS91586|CCDS8346" Q9NY30 10995567 MGI:1860140 RGD:1308809 605673 HGNC:13862 "ENST00000692032.1|NM_001367975.1" HGNC:13862 +HGNC:13862 BTG4 BTG anti-proliferation factor 4 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "PC3B|APRO3" "B-cell translocation gene 4|BTG family member 4" "BTG/Tob family|MicroRNA protein coding host genes" "1309|1691" 2000-11-15 2016-07-04 2023-01-20 54766 ENSG00000137707 OTTHUMG00000166718 uc001plj.4 AJ271351 NM_017589 "CCDS91586|CCDS8346|CCDS91585" Q9NY30 10995567 MGI:1860140 RGD:1308809 605673 HGNC:13862 "ENST00000692032.1|NM_001367975.1" HGNC:13862 HGNC:51544 BTG4P1 BTG anti-proliferation factor 4 pseudogene 1 pseudogene pseudogene Approved 5p14.1 05p14.1 B-cell translocation gene 4 pseudogene 1 2015-02-27 2016-07-04 2016-07-04 106480330 ENSG00000248156 OTTHUMG00000161888 NG_044501 PGOHUM00000300532 HGNC:51544 HGNC:1133 BTK Bruton tyrosine kinase protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "ATK|XLA|PSCTK1" Bruton's tyrosine kinase "AGMX1|IMD1" Bruton agammaglobulinemia tyrosine kinase "Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases" "682|741|1457" 1986-01-01 2015-11-27 2023-01-20 695 ENSG00000010671 OTTHUMG00000022022 uc004ehg.3 AK057105 NM_000061 "CCDS76003|CCDS14482|CCDS76002" Q06187 8380905 MGI:88216 RGD:1359683 "BTK base: Mutation registry for X-linked agammaglobulinemia|http://structure.bmc.lu.se/idbase/BTKbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BTK|LRG_128|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_128.xml" BTK 300300 119094 objectId:1948 2.7.10.1 HGNC:1133 "ENST00000308731.8|NM_000061.3" HGNC:1133 HGNC:21087 BTLA B and T lymphocyte associated protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "BTLA1|CD272" "CD molecules|Immunoglobulin like domain containing" "471|594" 2003-08-20 2023-01-20 151888 ENSG00000186265 OTTHUMG00000159255 uc003dza.5 AY293286 NM_181780 "CCDS33819|CCDS43130" Q7Z6A9 12796776 MGI:2658978 RGD:1303280 607925 ligandId:4891 CD272 HGNC:21087 "ENST00000334529.10|NM_181780.4" HGNC:1135 BTN1A1 butyrophilin subfamily 1 member A1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BT|BTN1" BTN butyrophilin, subfamily 1, member A1 "Butyrophilins|V-set domain containing|C2-set domain containing" "458|590|592" 1995-07-11 2015-12-11 2023-01-20 696 ENSG00000124557 OTTHUMG00000016358 uc003nif.5 U39576 NM_001732 CCDS4614 Q13410 "8114113|9382921" MGI:103118 RGD:1306984 601610 HGNC:1135 "ENST00000684113.1|NM_001732.3" HGNC:51545 BTN1A1P1 butyrophilin subfamily 1 member A1 pseudogene 1 pseudogene pseudogene Approved 6p22.2 06p22.2 butyrophilin, subfamily 1, member A1 pseudogene 1 2015-02-27 2015-12-11 2020-04-07 100420941 ENSG00000284688 NG_025907 PGOHUM00000301694 HGNC:51545 -HGNC:1136 BTN2A1 butyrophilin subfamily 2 member A1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BT2.1|BTF1|BTN2.1" butyrophilin, subfamily 2, member A1 "Butyrophilins|V-set domain containing|C2-set domain containing" "458|590|592" 1999-08-27 2015-12-11 2023-01-20 11120 ENSG00000112763 OTTHUMG00000014457 uc003nib.4 U90543 NM_007049 "CCDS4613|CCDS56404|CCDS47390|CCDS56405" Q7KYR7 "9382921|9149941" MGI:3606486 613590 HGNC:1136 "ENST00000312541.10|NM_007049.5" -HGNC:1137 BTN2A2 butyrophilin subfamily 2 member A2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BTF2|BT2.2|BTN2.2" butyrophilin, subfamily 2, member A2 "Butyrophilins|V-set domain containing|C2-set domain containing" "458|590|592" 1999-08-27 2015-12-11 2023-01-20 10385 ENSG00000124508 OTTHUMG00000014452 uc003nhq.4 U90550 NM_001197237 "CCDS4607|CCDS56402|CCDS56403|CCDS4606|CCDS56401" Q8WVV5 "10354554|9149941" MGI:3606486 RGD:1306973 613591 HGNC:1137 "ENST00000356709.9|NM_006995.5" +HGNC:1136 BTN2A1 butyrophilin subfamily 2 member A1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BT2.1|BTF1|BTN2.1" butyrophilin, subfamily 2, member A1 "Butyrophilins|V-set domain containing|C2-set domain containing" "458|590|592" 1999-08-27 2015-12-11 2023-01-20 11120 ENSG00000112763 OTTHUMG00000014457 uc003nib.4 U90543 NM_007049 "CCDS56405|CCDS4613|CCDS56404|CCDS47390" Q7KYR7 "9382921|9149941" MGI:3606486 613590 HGNC:1136 "ENST00000312541.10|NM_007049.5" +HGNC:1137 BTN2A2 butyrophilin subfamily 2 member A2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BTF2|BT2.2|BTN2.2" butyrophilin, subfamily 2, member A2 "Butyrophilins|V-set domain containing|C2-set domain containing" "458|590|592" 1999-08-27 2015-12-11 2023-01-20 10385 ENSG00000124508 OTTHUMG00000014452 uc003nhq.4 U90550 NM_001197237 "CCDS56402|CCDS56401|CCDS4607|CCDS4606|CCDS56403" Q8WVV5 "10354554|9149941" MGI:3606486 RGD:1306973 613591 HGNC:1137 "ENST00000356709.9|NM_006995.5" HGNC:13229 BTN2A3P butyrophilin subfamily 2 member A3, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 BTN2.3 BTN2A3 "butyrophilin, subfamily 2, member A3|butyrophilin, subfamily 2, member A3, pseudogene" Butyrophilins 458 2001-06-25 2011-09-06 2015-12-11 2023-03-15 54718 ENSG00000124549 OTTHUMG00000014453 AL021917 NR_027795 Q96KV6 MGI:3606486 613592 PGOHUM00000260151 HGNC:13229 -HGNC:1138 BTN3A1 butyrophilin subfamily 3 member A1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BT3.1|BTF5|CD277|BTN3.1" butyrophilin, subfamily 3, member A1 "Butyrophilins|CD molecules|V-set domain containing|C2-set domain containing" "458|471|590|592" 1999-08-27 2015-12-11 2023-01-20 11119 ENSG00000026950 OTTHUMG00000014449 uc003nhv.3 U90552 NM_001145008 "CCDS47388|CCDS4609|CCDS47389|CCDS4608" O00481 9149941 613593 objectId:2948 CD277 HGNC:1138 "ENST00000289361.11|NM_007048.6" -HGNC:1139 BTN3A2 butyrophilin subfamily 3 member A2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 BTN3.2 butyrophilin, subfamily 3, member A2 "Butyrophilins|V-set domain containing" "458|590" 1999-08-27 2015-12-11 2023-01-20 11118 ENSG00000186470 OTTHUMG00000014450 uc063mgs.1 U90546 NM_001197246 "CCDS4605|CCDS56399|CCDS56400" P78410 9149941 613594 HGNC:1139 "ENST00000377708.7|NM_007047.5" +HGNC:1138 BTN3A1 butyrophilin subfamily 3 member A1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BT3.1|BTF5|CD277|BTN3.1" butyrophilin, subfamily 3, member A1 "Butyrophilins|CD molecules|V-set domain containing|C2-set domain containing" "458|471|590|592" 1999-08-27 2015-12-11 2023-01-20 11119 ENSG00000026950 OTTHUMG00000014449 uc003nhv.3 U90552 NM_001145008 "CCDS47388|CCDS4608|CCDS47389|CCDS4609" O00481 9149941 613593 objectId:2948 CD277 HGNC:1138 "ENST00000289361.11|NM_007048.6" +HGNC:1139 BTN3A2 butyrophilin subfamily 3 member A2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 BTN3.2 butyrophilin, subfamily 3, member A2 "Butyrophilins|V-set domain containing" "458|590" 1999-08-27 2015-12-11 2023-01-20 11118 ENSG00000186470 OTTHUMG00000014450 uc063mgs.1 U90546 NM_001197246 "CCDS56400|CCDS56399|CCDS4605" P78410 9149941 613594 HGNC:1139 "ENST00000377708.7|NM_007047.5" HGNC:1140 BTN3A3 butyrophilin subfamily 3 member A3 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BTF3|BTN3.3" butyrophilin, subfamily 3, member A3 "Butyrophilins|V-set domain containing" "458|590" 1999-08-27 2015-12-11 2023-01-20 10384 ENSG00000111801 OTTHUMG00000014451 uc003nhz.3 U90548 NM_006994 "CCDS4612|CCDS4611" O00478 "10354554|9149941" 613595 HGNC:1140 "ENST00000244519.7|NM_006994.5" HGNC:1142 BTNL2 butyrophilin like 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "HSBLMHC1|BTL-II|BTN7" "butyrophilin-like 2 (MHC class II associated)|butyrophilin-like 2" "Butyrophilins|V-set domain containing|C2-set domain containing" "458|590|592" 2000-08-22 2016-01-06 2023-03-15 56244 ENSG00000204290 OTTHUMG00000031102 uc063nqv.1 AF186588 NM_019602 CCDS78126 Q9UIR0 "10803852|15735647" MGI:1859549 RGD:620731 606000 291915 HGNC:1142 "ENST00000454136.8|NM_001304561.2" HGNC:1143 BTNL3 butyrophilin like 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "BTNLR|BTN9.1" butyrophilin-like receptor butyrophilin-like 3 "Butyrophilins|V-set domain containing" "458|590" 2000-08-22 2016-01-06 2023-01-20 10917 ENSG00000168903 OTTHUMG00000162091 uc003mmr.3 AB020625 NM_197975 CCDS47358 Q6UXE8 10429365 606192 objectId:2944 HGNC:1143 "ENST00000342868.7|NM_197975.3" -HGNC:26131 BTNL8 butyrophilin like 8 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ21458|BTN9.2" butyrophilin-like 8 "Butyrophilins|V-set domain containing" "458|590" 2004-04-05 2016-01-06 2023-01-20 79908 ENSG00000113303 OTTHUMG00000130932 uc003mmq.3 AK025111 NM_024850 "CCDS54959|CCDS4459|CCDS54958|CCDS54956|CCDS43413|CCDS54957" Q6UX41 12975309 RGD:1587504 615606 objectId:2947 HGNC:26131 "ENST00000340184.9|NM_001040462.3" +HGNC:26131 BTNL8 butyrophilin like 8 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ21458|BTN9.2" butyrophilin-like 8 "Butyrophilins|V-set domain containing" "458|590" 2004-04-05 2016-01-06 2023-01-20 79908 ENSG00000113303 OTTHUMG00000130932 uc003mmq.3 AK025111 NM_024850 "CCDS54956|CCDS54958|CCDS54959|CCDS54957|CCDS43413|CCDS4459" Q6UX41 12975309 RGD:1587504 615606 objectId:2947 HGNC:26131 "ENST00000340184.9|NM_001040462.3" HGNC:24176 BTNL9 butyrophilin like 9 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ32535|BTN8" butyrophilin-like 9 "Butyrophilins|V-set domain containing" "458|590" 2004-04-05 2016-01-06 2023-01-20 153579 ENSG00000165810 OTTHUMG00000133152 uc003mmt.3 AK057097 NM_152547 "CCDS4460|CCDS78104" Q6UXG8 MGI:2442439 RGD:1590287 HGNC:24176 "ENST00000327705.14|NM_152547.5" HGNC:42540 BTNL10P butyrophilin like 10, pseudogene pseudogene pseudogene Approved 1q42.13 01q42.13 "BUTR1|BTN4" BTNL10 "butyrophilin-like 10|butyrophilin like 10" "Butyrophilins|V-set domain containing" "458|590" 2012-03-27 2022-06-13 2022-06-13 2022-06-28 100129094 ENSG00000215811 OTTHUMG00000191924 NR_172558 A8MVZ5 MGI:2182073 RGD:1559732 HGNC:42540 HGNC:52935 BTNL12P butyrophilin like 12, pseudogene pseudogene pseudogene Approved 3q13.33 03q13.33 LRRC58-DT LRRC58 divergent transcript 2021-06-25 2022-07-06 2022-07-06 2022-07-06 100130701 ENSG00000240661 OTTHUMG00000159404 XR_007096031 MGI:5595187 RGD:7554618 -HGNC:1144 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "bTrCP|betaTrCP|FBXW1A|Fwd1|beta-TrCP1|bTrCP1" beta-transducin repeat containing "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 1999-01-28 2012-02-23 2023-01-20 8945 ENSG00000166167 OTTHUMG00000018932 uc001kta.5 Y14153 NM_033637 "CCDS73183|CCDS7512|CCDS7511" Q9Y297 "9660940|10331953|18354483" MGI:1338871 RGD:1359721 603482 360504 HGNC:1144 "ENST00000370187.8|NM_033637.4" +HGNC:1144 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "bTrCP|betaTrCP|FBXW1A|Fwd1|beta-TrCP1|bTrCP1" beta-transducin repeat containing "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 1999-01-28 2012-02-23 2023-01-20 8945 ENSG00000166167 OTTHUMG00000018932 uc001kta.5 Y14153 NM_033637 "CCDS7512|CCDS7511|CCDS73183" Q9Y297 "9660940|10331953|18354483" MGI:1338871 RGD:1359721 603482 360504 HGNC:1144 "ENST00000370187.8|NM_033637.4" HGNC:51546 BTRCP1 beta-transducin repeat containing E3 ubiquitin protein ligase pseudogene 1 pseudogene pseudogene Approved 6q23.3 06q23.3 2015-03-03 2015-03-09 100420631 NG_025874 PGOHUM00000301562 HGNC:51546 -HGNC:1148 BUB1 BUB1 mitotic checkpoint serine/threonine kinase protein-coding gene gene with protein product Approved 2q13 02q13 "hBUB1|BUB1A" BUB1L "budding uninhibited by benzimidazoles 1 (yeast homolog)|budding uninhibited by benzimidazoles 1 homolog (yeast)" 1997-08-18 2016-01-15 2023-01-20 699 ENSG00000169679 OTTHUMG00000153638 uc002tgc.5 AF046078 NM_004336 "CCDS62985|CCDS62984|CCDS33273" O43683 9441741 MGI:1100510 RGD:1311707 602452 367084 objectId:1949 HGNC:1148 "ENST00000302759.11|NM_004336.5" HGNC:1148 +HGNC:1148 BUB1 BUB1 mitotic checkpoint serine/threonine kinase protein-coding gene gene with protein product Approved 2q13 02q13 "hBUB1|BUB1A" BUB1L "budding uninhibited by benzimidazoles 1 (yeast homolog)|budding uninhibited by benzimidazoles 1 homolog (yeast)" 1997-08-18 2016-01-15 2023-01-20 699 ENSG00000169679 OTTHUMG00000153638 uc002tgc.5 AF046078 NM_004336 "CCDS33273|CCDS62985|CCDS62984" O43683 9441741 MGI:1100510 RGD:1311707 602452 367084 objectId:1949 HGNC:1148 "ENST00000302759.11|NM_004336.5" HGNC:1148 HGNC:1149 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "BUBR1|MAD3L|Bub1A|SSK1" "budding uninhibited by benzimidazoles 1 (yeast homolog), beta|budding uninhibited by benzimidazoles 1 homolog beta (yeast)" 1998-03-25 2016-01-15 2023-01-20 701 ENSG00000156970 OTTHUMG00000129877 uc001zkx.5 AF107297 NM_001211 CCDS10053 O60566 9889005 MGI:1333889 RGD:619791 LRG_489|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_489.xml BUB1B 602860 119101 objectId:1950 HGNC:1149 "ENST00000287598.11|NM_001211.6" HGNC:1149 HGNC:52276 BUB1B-PAK6 BUB1B-PAK6 readthrough other readthrough Approved 15q15.1 15q15.1 2017-01-23 2017-01-23 106821730 ENSG00000259288 OTTHUMG00000172398 NM_001128628 MGI:2679420 HGNC:52276 HGNC:49529 BUB1P1 BUB1 mitotic checkpoint serine/threonine kinase pseudogene 1 pseudogene pseudogene Approved 10q26.2 10q26.2 2014-01-08 2016-01-15 2016-01-15 100422363 ENSG00000270778 OTTHUMG00000184638 NG_025548 PGOHUM00000238967 HGNC:49529 HGNC:1151 BUB3 BUB3 mitotic checkpoint protein protein-coding gene gene with protein product Approved 10q26.13 10q26.13 BUB3L "BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog|budding uninhibited by benzimidazoles 3 homolog (yeast)" WD repeat domain containing 362 1999-02-17 2019-01-18 2023-01-20 9184 ENSG00000154473 OTTHUMG00000019197 uc001lhe.3 AF053304 NM_001007793 "CCDS7635|CCDS31306" O43684 9660858 MGI:1343463 RGD:1306654 603719 367095 HGNC:1151 "ENST00000368865.9|NM_004725.4" HGNC:1151 HGNC:51559 BUB3P1 BUB3 mitotic checkpoint protein pseudogene 1 pseudogene pseudogene Approved 7q31.1 07q31.1 2015-03-05 2015-03-05 646614 ENSG00000227968 OTTHUMG00000154869 NG_009438 PGOHUM00000302391 HGNC:51559 HGNC:28199 BUD13 BUD13 homolog protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "MGC13125|fSAP71|Cwc26" functional spliceosome-associated protein 71 "BUD13 homolog (yeast)|BUD13 homolog (S. cerevisiae)" "NTC associated proteins|Spliceosomal P complex" "1498|1516" 2006-03-10 2015-07-02 2023-01-20 84811 ENSG00000137656 OTTHUMG00000045136 uc001ppn.4 BC006350 NM_032725 "CCDS53712|CCDS8374" Q9BRD0 25218446 MGI:2443443 RGD:1308076 HGNC:28199 "ENST00000260210.5|NM_032725.4" -HGNC:55834 BUD13-DT BUD13 divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Divergent transcripts 1990 2021-08-02 2021-08-02 122455333 ENSG00000226645 +HGNC:55834 BUD13-DT BUD13 divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Divergent transcripts 1990 2021-08-02 2021-08-02 122455333 ENSG00000226645 NR_186226 HGNC:51560 BUD13P1 BUD13 homolog pseudogene 1 pseudogene pseudogene Approved 11q21 11q21 BUD13 homolog (S. cerevisiae) pseudogene 1 2015-03-05 2015-07-02 2015-07-02 100420358 ENSG00000270689 OTTHUMG00000184754 NG_024552 PGOHUM00000291110 HGNC:51560 -HGNC:16405 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "MGC19709|MGC2022|MGC5140|PP3381|WBMT|MERM1" metastasis-related methyltransferase 1 WBSCR22 "Williams Beuren syndrome chromosome region 22|Williams-Beuren syndrome chromosome region 22" "Ribosomal biogenesis factors|7BS DNA/RNA methyltransferases" "1729|2059" 2001-08-24 2017-02-22 2019-01-18 2023-01-20 114049 ENSG00000071462 OTTHUMG00000023306 uc003tyt.4 AF420248 NM_001202560 "CCDS56490|CCDS5557" O43709 "12073013|21148752|25851604" MGI:1913388 RGD:1589742 615733 2.1.1.309 HGNC:16405 "ENST00000265758.7|NM_017528.5" +HGNC:16405 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "MGC19709|MGC2022|MGC5140|PP3381|WBMT|MERM1" metastasis-related methyltransferase 1 WBSCR22 "Williams Beuren syndrome chromosome region 22|Williams-Beuren syndrome chromosome region 22" "Ribosomal biogenesis factors|7BS DNA/RNA methyltransferases" "1729|2059" 2001-08-24 2017-02-22 2019-01-18 2023-01-20 114049 ENSG00000071462 OTTHUMG00000023306 uc003tyt.4 AF420248 NM_001202560 "CCDS5557|CCDS56490" O43709 "12073013|21148752|25851604" MGI:1913388 RGD:1589742 615733 2.1.1.309 HGNC:16405 "ENST00000265758.7|NM_017528.5" HGNC:29629 BUD31 BUD31 homolog protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "YCR063W|EDG-2|EDG2|fSAP17|Cwc14" functional spliceosome-associated protein 17 G10 "G10 maternal transcript homolog (Xenopus laevis)|BUD31 homolog (yeast)|BUD31 homolog (S. cerevisiae)" "NTC associated proteins|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1498|1507|1508|1510|1516" 2006-03-10 2006-03-16 2015-07-02 2023-01-20 8896 ENSG00000106245 OTTHUMG00000154602 uc003uqf.4 BC022821 NM_003910 CCDS5663 P41223 7841202 MGI:2141291 RGD:621103 603477 HGNC:29629 "ENST00000222969.10|NM_003910.4" HGNC:51561 BUD31P1 BUD31 homolog pseudogene 1 pseudogene pseudogene Approved 8p12 08p12 BUD31 homolog (S. cerevisiae) pseudogene 1 2015-03-05 2015-07-02 2015-07-02 106480331 ENSG00000253684 OTTHUMG00000163963 NG_044511 PGOHUM00000303153 HGNC:51561 HGNC:51562 BUD31P2 BUD31 homolog pseudogene 2 pseudogene pseudogene Approved Xq13.3 Xq13.3 BUD31 homolog (S. cerevisiae) pseudogene 2 2015-03-05 2015-07-02 2015-07-02 106480332 ENSG00000229661 OTTHUMG00000021861 NG_044520 PGOHUM00000305158 HGNC:51562 @@ -2793,11 +2793,11 @@ HGNC:1152 BVES blood vessel epicardial substance protein-coding gene gene with p HGNC:21223 BVES-AS1 BVES antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 bA99L11.2 C6orf112 "chromosome 6 open reading frame 112|BVES antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-11-25 2012-02-06 2012-08-15 2014-11-18 154442 ENSG00000203808 OTTHUMG00000015292 uc063qia.1 AL137368 NR_037157 Q5T3Y7 BVES-AS1 HGNC:21223 HGNC:1153 BVR1 Burkitt lymphoma variant rearranging region 1 other region Approved 8q24 08q24 1990-09-10 2019-10-10 700 M16601 9790502 HGNC:1157 BYSL bystin like protein-coding gene gene with protein product Approved 6p21.1 06p21.1 Enp1 bystin-like SSU processome 1484 1998-05-05 2015-11-17 2023-01-20 705 ENSG00000112578 OTTHUMG00000014687 uc003orl.4 L36720 NM_004053 CCDS34450 Q13895 "9925933|17381424" MGI:1858419 RGD:727959 603871 HGNC:1157 "ENST00000230340.9|NM_004053.4" -HGNC:18380 BZW1 basic leucine zipper and W2 domains 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "BZAP45|KIAA0005|5MP2" eIF5-mimic protein 2 2002-08-05 2023-01-20 9689 ENSG00000082153 OTTHUMG00000154560 uc002uwc.4 D13630 NM_014670 "CCDS56156|CCDS56155|CCDS56154" Q7L1Q6 "10964520|11524015|27325740|29470543" MGI:1914132 RGD:735129 619252 HGNC:18380 "ENST00000409600.6|NM_001207067.2" +HGNC:18380 BZW1 basic leucine zipper and W2 domains 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "BZAP45|KIAA0005|5MP2" eIF5-mimic protein 2 2002-08-05 2023-01-20 9689 ENSG00000082153 OTTHUMG00000154560 uc002uwc.4 D13630 NM_014670 "CCDS56155|CCDS56156|CCDS56154" Q7L1Q6 "10964520|11524015|27325740|29470543" MGI:1914132 RGD:735129 619252 HGNC:18380 "ENST00000409600.6|NM_001207067.2" HGNC:40839 BZW1-AS1 BZW1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 Antisense RNAs 1987 2019-07-24 2019-07-24 101927795 ENSG00000230408 OTTHUMG00000154546 NR_110275 HGNC:40839 HGNC:31378 BZW1P1 basic leucine zipper and W2 domains 1 pseudogene 1 pseudogene pseudogene Approved 3q26.31 03q26.31 2005-10-06 2015-03-25 391592 ENSG00000236686 OTTHUMG00000156945 NG_008827 PGOHUM00000299270 HGNC:31378 HGNC:33954 BZW1P2 basic leucine zipper and W2 domains 1 pseudogene 2 pseudogene pseudogene Approved 3q13.31 03q13.31 BZW1L1 basic leucine zipper and W2 domains 1 like 1 2008-01-24 2010-10-01 2010-10-01 2014-11-19 151579 ENSG00000198406 OTTHUMG00000159328 NG_022890 PGOHUM00000237731 HGNC:33954 -HGNC:18808 BZW2 basic leucine zipper and W2 domains 2 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "HSPC028|MST017|MSTP017|5MP1" eIF5-mimic protein 1 2002-08-05 2023-01-20 28969 ENSG00000136261 OTTHUMG00000130755 uc003stj.3 AF083246 NM_014038 "CCDS5362|CCDS87482" Q9Y6E2 "11042152|21745818|29470543" MGI:1914162 RGD:621507 619275 HGNC:18808 "ENST00000258761.8|NM_014038.3" +HGNC:18808 BZW2 basic leucine zipper and W2 domains 2 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "HSPC028|MST017|MSTP017|5MP1" eIF5-mimic protein 1 2002-08-05 2023-01-20 28969 ENSG00000136261 OTTHUMG00000130755 uc003stj.3 AF083246 NM_014038 "CCDS87482|CCDS5362" Q9Y6E2 "11042152|21745818|29470543" MGI:1914162 RGD:621507 619275 HGNC:18808 "ENST00000258761.8|NM_014038.3" HGNC:29911 C1D C1D nuclear receptor corepressor protein-coding gene gene with protein product Approved 2p14 02p14 "SUNCOR|SUN-CoR|LRP1|Rrp47" small unique nuclear receptor co-repressor C1D nuclear receptor co-repressor 2009-02-06 2010-06-10 2023-01-20 10438 ENSG00000197223 OTTHUMG00000129564 uc002seb.4 NM_006333 CCDS1883 Q13901 "9469821|17599775|17412707|11801738|9405624" MGI:1927354 RGD:1560600 606997 HGNC:29911 "ENST00000410067.8|NM_173177.3" HGNC:31465 C1DP1 C1D nuclear receptor corepressor pseudogene 1 pseudogene pseudogene Approved 10p11.22 10p11.22 bA195O1.1 C1D nuclear receptor co-repressor pseudogene 1 2010-03-23 2010-06-10 2016-10-05 554049 ENSG00000231245 OTTHUMG00000017927 NG_005140 HGNC:31465 HGNC:31660 C1DP2 C1D nuclear receptor corepressor pseudogene 2 pseudogene pseudogene Approved 10q22.3 10q22.3 bA369J21.3 C1D nuclear receptor co-repressor pseudogene 2 2010-03-23 2010-06-10 2014-11-19 642538 ENSG00000236217 OTTHUMG00000018599 XM_926027 PGOHUM00000238559 HGNC:31660 @@ -2813,7 +2813,7 @@ HGNC:51616 C1GALT1P3 C1GALT1 pseudogene 3 pseudogene pseudogene Approved 8q12.3 HGNC:15494 C1orf21 chromosome 1 open reading frame 21 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 PIG13 proliferation-inducing protein 13 2001-04-27 2023-01-20 81563 ENSG00000116667 OTTHUMG00000035386 uc001gqv.2 AF312864 NM_030806 CCDS1362 Q9H246 11318611 MGI:1916649 RGD:1309104 HGNC:15494 "ENST00000235307.7|NM_030806.4" HGNC:55249 C1orf21-DT C1orf21 divergent transcript non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Divergent transcripts 1990 2020-10-12 2020-10-12 118827814 ENSG00000271387 NR_172919 HGNC:19032 C1orf35 chromosome 1 open reading frame 35 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "MGC4174|MMTAG2" multiple myeloma tumor-associated protein 2 2002-08-19 2023-01-20 79169 ENSG00000143793 OTTHUMG00000037793 uc001hrx.4 AY137773 NM_024319 CCDS1566 Q9BU76 "12545221|32103167" MGI:1915112 RGD:1304587 HGNC:19032 "ENST00000272139.5|NM_024319.4" -HGNC:29876 C1orf43 chromosome 1 open reading frame 43 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "NICE-3|DKFZp586G1722" 2004-09-14 2023-01-20 25912 ENSG00000143612 OTTHUMG00000035981 uc001fei.3 AF077036 NM_015449 "CCDS76219|CCDS1061|CCDS72924|CCDS41404|CCDS1062|CCDS76220" Q9BWL3 "11042152|11230159|31540829" MGI:1914027 RGD:1359625 617428 HGNC:29876 "ENST00000368521.10|NM_001098616.3" +HGNC:29876 C1orf43 chromosome 1 open reading frame 43 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "NICE-3|DKFZp586G1722" 2004-09-14 2023-01-20 25912 ENSG00000143612 OTTHUMG00000035981 uc001fei.3 AF077036 NM_015449 "CCDS72924|CCDS76220|CCDS76219|CCDS41404|CCDS1062|CCDS1061" Q9BWL3 "11042152|11230159|31540829" MGI:1914027 RGD:1359625 617428 HGNC:29876 "ENST00000368521.10|NM_001098616.3" HGNC:28795 C1orf50 chromosome 1 open reading frame 50 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 MGC955 2005-01-31 2023-01-20 79078 ENSG00000164008 OTTHUMG00000191873 uc001cia.5 BC001711 NM_024097 CCDS473 Q9BV19 12477932 MGI:2140466 RGD:1564804 HGNC:28795 "ENST00000372525.7|NM_024097.4" HGNC:41212 C1orf50-AS1 C1orf50 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Antisense RNAs 1987 2021-12-10 2021-12-10 123706505 ENSG00000228452 OTTHUMG00000007569 HGNC:24871 C1orf52 chromosome 1 open reading frame 52 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "gm117|FLJ44982" 2005-02-09 2023-01-20 148423 ENSG00000162642 OTTHUMG00000009966 uc001dkv.4 BC029538 NM_198077 CCDS703 Q8N6N3 11891061 MGI:1913671 RGD:1560065 HGNC:24871 "ENST00000471115.6|NM_198077.4" @@ -2822,27 +2822,27 @@ HGNC:26258 C1orf54 chromosome 1 open reading frame 54 protein-coding gene gene w HGNC:26045 C1orf56 chromosome 1 open reading frame 56 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "FLJ20519|MENT" methylated in normal thymocytes 2005-04-22 2023-01-20 54964 ENSG00000143443 OTTHUMG00000035159 uc001ewn.4 BC002469 NM_017860 CCDS980 Q9BUN1 "12975309|22133874" MGI:2684974 RGD:1359334 HGNC:26045 "ENST00000368926.6|NM_017860.5" HGNC:26319 C1orf74 chromosome 1 open reading frame 74 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "FLJ25078|URLC4" up-regulated in lung cancer 4 2005-05-19 2023-01-20 148304 ENSG00000162757 OTTHUMG00000036483 uc001hhp.2 AK057807 NM_152485 CCDS1491 Q96LT6 12477932 MGI:2441776 RGD:1642423 HGNC:26319 "ENST00000294811.2|NM_152485.4" HGNC:28547 C1orf87 chromosome 1 open reading frame 87 protein-coding gene gene with protein product Approved 1p32.1 01p32.1 "MGC34837|CREF" carcinoma-related EF-hand protein 2005-05-27 2023-01-20 127795 ENSG00000162598 OTTHUMG00000008992 uc001czs.3 AK124828 NM_152377 CCDS614 Q8N0U7 25048349 MGI:3650206 RGD:1560146 618860 HGNC:28547 "ENST00000371201.3|NM_152377.3" -HGNC:28250 C1orf94 chromosome 1 open reading frame 94 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 MGC15882 2005-05-31 2023-01-20 84970 ENSG00000142698 OTTHUMG00000004012 uc001bxt.4 AK123355 NM_032884 "CCDS44108|CCDS381" Q6P1W5 25048349 MGI:3616080 RGD:1586982 470020 HGNC:28250 "ENST00000488417.2|NM_001134734.2" -HGNC:29591 C1orf105 chromosome 1 open reading frame 105 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 2005-06-03 2023-01-20 92346 ENSG00000180999 OTTHUMG00000034750 uc001gik.3 AL035295 NM_139240 "CCDS1301|CCDS72983" O95561 12477932 MGI:1922618 RGD:1309106 HGNC:29591 "ENST00000367727.9|NM_139240.4" +HGNC:28250 C1orf94 chromosome 1 open reading frame 94 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 MGC15882 2005-05-31 2023-01-20 84970 ENSG00000142698 OTTHUMG00000004012 uc001bxt.4 AK123355 NM_032884 "CCDS381|CCDS44108" Q6P1W5 25048349 MGI:3616080 RGD:1586982 470020 HGNC:28250 "ENST00000488417.2|NM_001134734.2" +HGNC:29591 C1orf105 chromosome 1 open reading frame 105 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 2005-06-03 2023-01-20 92346 ENSG00000180999 OTTHUMG00000034750 uc001gik.3 AL035295 NM_139240 "CCDS72983|CCDS1301" O95561 12477932 MGI:1922618 RGD:1309106 HGNC:29591 "ENST00000367727.9|NM_139240.4" HGNC:25873 C1orf115 chromosome 1 open reading frame 115 protein-coding gene gene with protein product Approved 1q41 01q41 "FLJ14146|RDD1" Required for Drug-induced Death 1 2005-06-10 2023-01-20 79762 ENSG00000162817 OTTHUMG00000037361 uc001hmp.2 AK024208 NM_024709 CCDS1524 Q9H7X2 32028983 MGI:2444831 RGD:1310587 HGNC:25873 "ENST00000294889.6|NM_024709.5" -HGNC:28667 C1orf116 chromosome 1 open reading frame 116 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "SARG|FLJ36507|MGC2742|MGC4309" specifically androgen-regulated gene 2005-06-30 2023-01-20 79098 ENSG00000182795 OTTHUMG00000036580 uc001hfd.3 NM_024115 "CCDS1475|CCDS44306" Q9BW04 "15525603|9389513" MGI:2138143 RGD:1565034 611680 HGNC:28667 "ENST00000359470.6|NM_023938.6" +HGNC:28667 C1orf116 chromosome 1 open reading frame 116 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "SARG|FLJ36507|MGC2742|MGC4309" specifically androgen-regulated gene 2005-06-30 2023-01-20 79098 ENSG00000182795 OTTHUMG00000036580 uc001hfd.3 NM_024115 "CCDS44306|CCDS1475" Q9BW04 "15525603|9389513" MGI:2138143 RGD:1565034 611680 HGNC:28667 "ENST00000359470.6|NM_023938.6" HGNC:24789 C1orf122 chromosome 1 open reading frame 122 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ45459 2005-06-21 2005-08-09 2023-01-20 127687 ENSG00000197982 OTTHUMG00000004319 uc001ccd.3 AK127381 NM_198446 "CCDS427|CCDS44112" Q6ZSJ8 12477932 MGI:1916170 RGD:1559909 HGNC:24789 "ENST00000373042.5|NM_198446.3" HGNC:26730 C1orf127 chromosome 1 open reading frame 127 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 FLJ37118 2005-06-23 2023-03-15 148345 ENSG00000175262 OTTHUMG00000002032 uc010oao.2 AK094437 NM_173507 CCDS53267 Q8N9H9 "14702039|34768622" MGI:2685418 RGD:1585063 619700 HGNC:26730 "ENST00000377004.9|NM_001170754.2" HGNC:25332 C1orf131 chromosome 1 open reading frame 131 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 DKFZp547B1713 2005-06-30 2023-01-20 128061 ENSG00000143633 OTTHUMG00000038023 uc001hul.4 BC062353 NM_152379 "CCDS73049|CCDS1591" Q8NDD1 "12975309|34516797" MGI:1913773 RGD:1562218 HGNC:25332 "ENST00000366649.7|NM_152379.4" HGNC:32044 C1orf141 chromosome 1 open reading frame 141 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 2005-07-08 2023-01-20 400757 ENSG00000203963 OTTHUMG00000009406 uc057hjb.1 BC090886 NM_001013674 "CCDS72804|CCDS30745" Q5JVX7 MGI:1918191 RGD:1562532 HGNC:32044 "ENST00000684719.1|NM_001276351.2" HGNC:24032 C1orf146 chromosome 1 open reading frame 146 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "SPO16|SCRE" synaptonemal complex reinforcing element 2005-07-11 2023-05-19 388649 ENSG00000203910 OTTHUMG00000010285 uc001doq.4 NM_001012425 CCDS30772 Q5VVC0 "23844656|30746471|30949703" MGI:1923671 RGD:1586315 618968 HGNC:24032 "ENST00000370375.8|NM_001012425.2" -HGNC:26062 C1orf159 chromosome 1 open reading frame 159 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ20584 2005-07-15 2023-01-20 54991 ENSG00000131591 OTTHUMG00000000745 uc001acu.3 AK128434 NM_017891 "CCDS81250|CCDS7|CCDS85917" Q96HA4 12975309 MGI:2444364 RGD:1311517 HGNC:26062 "ENST00000421241.7|NM_017891.5" -HGNC:28344 C1orf162 chromosome 1 open reading frame 162 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 MGC24133 2005-07-15 2023-01-20 128346 ENSG00000143110 OTTHUMG00000011750 uc001ebe.4 BC017973 NM_174896 "CCDS72837|CCDS837" Q8NEQ5 12477932 MGI:3588284 RGD:2323412 HGNC:28344 "ENST00000369718.4|NM_001300834.2" +HGNC:26062 C1orf159 chromosome 1 open reading frame 159 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ20584 2005-07-15 2023-01-20 54991 ENSG00000131591 OTTHUMG00000000745 uc001acu.3 AK128434 NM_017891 "CCDS7|CCDS81250|CCDS85917" Q96HA4 12975309 MGI:2444364 RGD:1311517 HGNC:26062 "ENST00000421241.7|NM_017891.5" +HGNC:28344 C1orf162 chromosome 1 open reading frame 162 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 MGC24133 2005-07-15 2023-01-20 128346 ENSG00000143110 OTTHUMG00000011750 uc001ebe.4 BC017973 NM_174896 "CCDS837|CCDS72837" Q8NEQ5 12477932 MGI:3588284 RGD:2323412 HGNC:28344 "ENST00000369718.4|NM_001300834.2" HGNC:25262 C1orf167 chromosome 1 open reading frame 167 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "DKFZp434E1410|RP11-56N19.2" 2005-07-20 2023-01-20 284498 ENSG00000215910 OTTHUMG00000002228 uc057chg.1 AL834308 NM_001010881 CCDS90862 Q5SNV9 "12370778|31256822|31175347" RGD:7658417 HGNC:25262 "ENST00000688073.1|NM_001010881.2" HGNC:41091 C1orf167-AS1 C1orf167 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 Antisense RNAs 1987 2019-07-24 2019-07-24 102724659 ENSG00000177553 OTTHUMG00000037775 NR_126000 HGNC:41091 HGNC:27915 C1orf174 chromosome 1 open reading frame 174 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 RP13-531C17.2 2005-07-21 2023-01-20 339448 ENSG00000198912 OTTHUMG00000003739 uc001alf.4 BC035643 NM_207356 CCDS53 Q8IYL3 31927188 MGI:2140680 RGD:1304567 HGNC:27915 "ENST00000361605.4|NM_207356.3" -HGNC:28096 C1orf185 chromosome 1 open reading frame 185 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ27485 2005-08-11 2023-01-20 284546 ENSG00000204006 OTTHUMG00000008084 uc001csh.4 AK130995 NM_001136508 "CCDS44142|CCDS90951" Q5T7R7 MGI:1914896 RGD:1591038 HGNC:28096 "ENST00000371759.7|NM_001136508.2" -HGNC:25900 C1orf198 chromosome 1 open reading frame 198 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "FLJ14525|MGC10710|FLJ16283|DKFZp667D152|FLJ38847" 2006-02-15 2023-01-20 84886 ENSG00000119280 OTTHUMG00000037790 uc001hub.4 BC066649 NM_032800 "CCDS44331|CCDS44330|CCDS1587" Q9H425 MGI:1916801 RGD:1559896 HGNC:25900 "ENST00000366663.10|NM_032800.3" +HGNC:28096 C1orf185 chromosome 1 open reading frame 185 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ27485 2005-08-11 2023-01-20 284546 ENSG00000204006 OTTHUMG00000008084 uc001csh.4 AK130995 NM_001136508 "CCDS90951|CCDS44142" Q5T7R7 MGI:1914896 RGD:1591038 HGNC:28096 "ENST00000371759.7|NM_001136508.2" +HGNC:25900 C1orf198 chromosome 1 open reading frame 198 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "FLJ14525|MGC10710|FLJ16283|DKFZp667D152|FLJ38847" 2006-02-15 2023-01-20 84886 ENSG00000119280 OTTHUMG00000037790 uc001hub.4 BC066649 NM_032800 "CCDS1587|CCDS44330|CCDS44331" Q9H425 MGI:1916801 RGD:1559896 HGNC:25900 "ENST00000366663.10|NM_032800.3" HGNC:56760 C1orf202 chromosome 1 open reading frame 202 protein-coding gene gene with protein product Approved 1q44 01q44 2023-03-13 2023-03-13 122455338 ENSG00000284188 NM_001395959 CCDS91189 HGNC:28755 C1orf210 chromosome 1 open reading frame 210 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "MGC52423|TEMP" Type III Endosome Membrane Protein 2006-03-22 2023-01-20 149466 ENSG00000253313 OTTHUMG00000007289 uc001cit.5 BC041633 NM_182517 CCDS481 Q8IVY1 24710541 MGI:1913701 RGD:1305347 HGNC:28755 "ENST00000523677.6|NM_182517.3" HGNC:26800 C1orf216 chromosome 1 open reading frame 216 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ38984 2007-07-10 2023-01-20 127703 ENSG00000142686 OTTHUMG00000004167 uc001bzh.2 AK096303 NM_152374 CCDS395 Q8TAB5 12477932 MGI:3609248 RGD:1563072 HGNC:26800 "ENST00000270815.5|NM_152374.2" HGNC:33805 C1orf220 chromosome 1 putative open reading frame 220 other unknown Approved 1q25.2 01q25.2 FLJ35530 "chromosome 1 open reading frame 220 (putative)|chromosome 1 open reading frame 220" 2007-11-30 2021-03-05 2023-03-15 400798 ENSG00000213057 OTTHUMG00000035078 uc001glx.1 NR_033186 Q5T0J3 26186194 HGNC:33805 -HGNC:34351 C1orf226 chromosome 1 open reading frame 226 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 FLJ13137 2008-09-22 2023-01-20 400793 ENSG00000239887 OTTHUMG00000031376 uc010pkt.2 "AI480219|AK023199|AK125122|AL512785|BC127743" NM_001085375 "CCDS44268|CCDS53422" A1L170 14702039 MGI:3649135 RGD:2320873 HGNC:34351 "ENST00000458626.4|NM_001085375.2" +HGNC:34351 C1orf226 chromosome 1 open reading frame 226 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 FLJ13137 2008-09-22 2023-01-20 400793 ENSG00000239887 OTTHUMG00000031376 uc010pkt.2 "AI480219|AK023199|AK125122|AL512785|BC127743" NM_001085375 "CCDS53422|CCDS44268" A1L170 14702039 MGI:3649135 RGD:2320873 HGNC:34351 "ENST00000458626.4|NM_001085375.2" HGNC:53426 C1orf232 chromosome 1 open reading frame 230 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 2017-03-31 2023-01-20 110806296 ENSG00000282872 OTTHUMG00000191595 NM_001364667 "CCDS90889|CCDS90888" A0A0U1RR37 MGI:5589350 RGD:11378091 HGNC:53426 "ENST00000634842.2|NM_001364669.2" HGNC:1241 C1QA complement C1q A chain protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "complement component 1, q subcomponent, alpha polypeptide|complement component 1, q subcomponent, A chain|complement C1q chain A" "Complement system activation components|C1q domain containing" "1638|1641" 2001-06-22 2016-07-04 2023-01-20 712 ENSG00000173372 OTTHUMG00000002893 uc001bfy.4 AF135157 NM_015991 CCDS226 P02745 1537612 MGI:88223 RGD:1306716 "C1QAbase: Mutation registry for C1qA deficiency|http://structure.bmc.lu.se/idbase/C1QAbase/index2.html|LRG_22|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_22.xml" 120550 221162 HGNC:1241 "ENST00000374642.8|NM_015991.4" HGNC:1241 HGNC:1242 C1QB complement C1q B chain protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "complement component 1, q subcomponent, beta polypeptide|complement component 1, q subcomponent, B chain|complement C1q chain B" "Complement system activation components|C1q domain containing" "1638|1641" 2001-06-22 2016-07-04 2023-03-15 713 ENSG00000173369 OTTHUMG00000002896 uc001bgd.3 X03084 NM_000491 CCDS90878 P02746 1537612 MGI:88224 RGD:2229 "C1QBbase: Mutation registry for C1qB deficiency|http://structure.bmc.lu.se/idbase/C1QBbase/|LRG_23|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_23.xml" 120570 221166 HGNC:1242 "ENST00000509305.6|NM_001378156.1" HGNC:1242 @@ -2859,7 +2859,7 @@ HGNC:31416 C1QL4 complement C1q like 4 protein-coding gene gene with protein pro HGNC:14324 C1QTNF1 C1q and TNF related 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "CTRP1|ZSIG37|GIP|FLJ90694" G protein coupled receptor interacting protein C1q and tumor necrosis factor related protein 1 C1q and TNF related 1372 2001-10-02 2017-03-01 2023-01-20 114897 ENSG00000173918 OTTHUMG00000177533 uc031rep.2 AF329840 NM_030968 "CCDS11762|CCDS11761" Q9BXJ1 12409230 MGI:1919254 RGD:1359204 610365 HGNC:14324 "ENST00000579760.6|NM_030968.5" HGNC:44351 C1QTNF1-AS1 C1QTNF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Antisense RNAs 1987 2013-05-21 2016-09-26 100507410 ENSG00000265096 OTTHUMG00000132159 NR_040018 C1QTNF1-AS1 HGNC:44351 HGNC:14325 C1QTNF2 C1q and TNF related 2 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 CTRP2 C1q and tumor necrosis factor related protein 2 C1q and TNF related 1372 2001-10-02 2017-03-01 2023-01-20 114898 ENSG00000145861 OTTHUMG00000130323 uc003lyd.4 AF329836 NM_001366504 CCDS4351 Q9BXJ5 MGI:1916433 RGD:1561041 618647 HGNC:14325 "ENST00000652664.2|NM_031908.6" -HGNC:14326 C1QTNF3 C1q and TNF related 3 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "CTRP3|Cors|Corcs|2310005P21Rik|Cors-26" cartonectin C1q and tumor necrosis factor related protein 3 C1q and TNF related 1372 2001-10-02 2017-03-01 2023-01-20 114899 ENSG00000082196 OTTHUMG00000090735 uc003jin.4 AF329837 NM_030945 "CCDS3904|CCDS34141" Q9BXJ4 18421280 MGI:1932136 RGD:1305010 612045 HGNC:14326 "ENST00000382065.8|NM_181435.6" +HGNC:14326 C1QTNF3 C1q and TNF related 3 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "CTRP3|Cors|Corcs|2310005P21Rik|Cors-26" cartonectin C1q and tumor necrosis factor related protein 3 C1q and TNF related 1372 2001-10-02 2017-03-01 2023-01-20 114899 ENSG00000082196 OTTHUMG00000090735 uc003jin.4 AF329837 NM_030945 "CCDS34141|CCDS3904" Q9BXJ4 18421280 MGI:1932136 RGD:1305010 612045 HGNC:14326 "ENST00000382065.8|NM_181435.6" HGNC:49198 C1QTNF3-AMACR C1QTNF3-AMACR readthrough (NMD candidate) other readthrough Approved 5p13.2 05p13.2 2013-09-30 2016-11-09 100534612 ENSG00000273294 OTTHUMG00000186337 NR_037951 HGNC:49198 HGNC:14346 C1QTNF4 C1q and TNF related 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "CTRP4|ZACRP4" complement-c1q tumor necrosis factor-related protein 4 C1q and tumor necrosis factor related protein 4 C1q and TNF related 1372 2001-10-02 2017-03-01 2023-01-20 114900 ENSG00000172247 OTTHUMG00000166895 uc001ngc.3 AF329838 NM_031909 CCDS7942 Q9BXJ3 16094384 MGI:1914695 RGD:1311006 614911 HGNC:14346 "ENST00000302514.4|NM_031909.3" HGNC:14344 C1QTNF5 C1q and TNF related 5 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "CTRP5|DKFZp586B0621|LORD" "complement-c1q tumor necrosis factor-related protein 5|myonectin" C1q and tumor necrosis factor related protein 5 C1q and TNF related 1372 2001-10-02 2017-03-01 2023-01-20 114902 ENSG00000223953 OTTHUMG00000166198 uc058iiv.2 AF329841 NM_015645 CCDS8420 Q9BXJ0 12944416 MGI:2385958 RGD:1308802 608752 138575 HGNC:14344 "ENST00000528368.3|NM_001278431.2" HGNC:14344 @@ -2871,13 +2871,13 @@ HGNC:28732 C1QTNF9 C1q and TNF related 9 protein-coding gene gene with protein p HGNC:39906 C1QTNF9-AS1 C1QTNF9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 C1QTNF9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874232 ENSG00000240868 OTTHUMG00000016579 uc058vxu.1 C1QTNF9-AS1 HGNC:34072 C1QTNF9B C1q and TNF related 9B protein-coding gene gene with protein product Approved 13q12.12 13q12.12 CTRP9B C1q and tumor necrosis factor related protein 9B C1q and TNF related 1372 2011-05-08 2017-03-01 2023-01-20 387911 ENSG00000205863 OTTHUMG00000016570 uc058vxi.1 BC110413 NM_001007537 CCDS31947 B2RNN3 17544811 MGI:3045252 RGD:1560876 614148 HGNC:34072 HGNC:32308 C1QTNF12 C1q and TNF related 12 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "MGC105127|CTRP12|ADIPOLIN" "adipolin|adipose-derived insulin-sensitizing factor" "C1QDC2|FAM132A" "C1q domain containing 2|family with sequence similarity 132, member A|family with sequence similarity 132 member A|C1q and tumor necrosis factor related protein 12" C1q and TNF related 1372 2005-09-27 2017-01-18 2017-03-01 2023-01-20 388581 ENSG00000184163 OTTHUMG00000001412 uc001adl.3 BC089443 NM_001014980 CCDS30554 Q5T7M4 21849507 MGI:1914639 RGD:1307059 616593 HGNC:32308 "ENST00000330388.2|NM_001014980.3" -HGNC:1246 C1R complement C1r protein-coding gene gene with protein product Approved 12p13.31 12p13.31 complement component 1, r subcomponent "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2023-01-20 715 ENSG00000159403 OTTHUMG00000168149 uc031ysf.2 M14058 NM_001733 "CCDS86272|CCDS81658" P00736 "MGI:1355313|MGI:3779804" RGD:1309091 LRG_1321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1321.xml 613785 360362 S01.192 objectId:2334 3.4.21.41 HGNC:1246 "ENST00000647956.2|NM_001733.7" HGNC:1246 -HGNC:21265 C1RL complement C1r subcomponent like protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "C1r-LP|C1RL1" complement component 1, r subcomponent-like Sushi domain containing 1179 2003-09-03 2016-03-08 2023-01-20 51279 ENSG00000139178 OTTHUMG00000168144 uc001qsn.4 AF178985 NM_016546 "CCDS8573|CCDS73431|CCDS76517" Q9NZP8 12838346 MGI:2660692 RGD:1302936 608974 S01.189 HGNC:21265 "ENST00000266542.9|NM_016546.4" +HGNC:1246 C1R complement C1r protein-coding gene gene with protein product Approved 12p13.31 12p13.31 complement component 1, r subcomponent "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2023-01-20 715 ENSG00000159403 OTTHUMG00000168149 uc031ysf.2 M14058 NM_001733 "CCDS81658|CCDS86272" P00736 "MGI:1355313|MGI:3779804" RGD:1309091 LRG_1321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1321.xml 613785 360362 S01.192 objectId:2334 3.4.21.41 HGNC:1246 "ENST00000647956.2|NM_001733.7" HGNC:1246 +HGNC:21265 C1RL complement C1r subcomponent like protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "C1r-LP|C1RL1" complement component 1, r subcomponent-like Sushi domain containing 1179 2003-09-03 2016-03-08 2023-01-20 51279 ENSG00000139178 OTTHUMG00000168144 uc001qsn.4 AF178985 NM_016546 "CCDS8573|CCDS76517|CCDS73431" Q9NZP8 12838346 MGI:2660692 RGD:1302936 608974 S01.189 HGNC:21265 "ENST00000266542.9|NM_016546.4" HGNC:27461 C1RL-AS1 C1RL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 MATL2963 C1RL antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 283314 ENSG00000205885 OTTHUMG00000168164 uc001qsp.3 AL833364 NR_026947 C1RL-AS1 HGNC:27461 -HGNC:1247 C1S complement C1s protein-coding gene gene with protein product Approved 12p13.31 12p13.31 complement component 1, s subcomponent "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2023-01-20 716 ENSG00000182326 OTTHUMG00000150305 uc001qsj.4 NM_001734 "CCDS31735|CCDS86271" P09871 "MGI:1355312|MGI:3644269" RGD:619983 "C1Sbase: Mutation registry for C1s deficiency|http://structure.bmc.lu.se/idbase/C1Sbase/index2.html|LRG_25|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_25.xml" 120580 221171 S01.193 objectId:2335 3.4.21.42 HGNC:1247 "ENST00000360817.10|NM_001734.5" HGNC:1247 -HGNC:1248 C2 complement C2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 complement component 2 "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2023-01-20 717 ENSG00000166278 OTTHUMG00000031190 uc003nyf.5 NM_000063 "CCDS75428|CCDS54991|CCDS75427|CCDS56416|CCDS4728" P06681 MGI:88226 RGD:2231 "C2base: Mutation registry for C2 deficiency|http://structure.bmc.lu.se/idbase/C2base/index2.html|LRG_26|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_26.xml" 613927 119106 S01.194 HGNC:1248 "ENST00000299367.10|NM_000063.6" +HGNC:1247 C1S complement C1s protein-coding gene gene with protein product Approved 12p13.31 12p13.31 complement component 1, s subcomponent "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2023-01-20 716 ENSG00000182326 OTTHUMG00000150305 uc001qsj.4 NM_001734 "CCDS86271|CCDS31735" P09871 "MGI:1355312|MGI:3644269" RGD:619983 "C1Sbase: Mutation registry for C1s deficiency|http://structure.bmc.lu.se/idbase/C1Sbase/index2.html|LRG_25|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_25.xml" 120580 221171 S01.193 objectId:2335 3.4.21.42 HGNC:1247 "ENST00000360817.10|NM_001734.5" HGNC:1247 +HGNC:1248 C2 complement C2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 complement component 2 "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2023-01-20 717 ENSG00000166278 OTTHUMG00000031190 uc003nyf.5 NM_000063 "CCDS4728|CCDS54991|CCDS75428|CCDS56416|CCDS75427" P06681 MGI:88226 RGD:2231 "C2base: Mutation registry for C2 deficiency|http://structure.bmc.lu.se/idbase/C2base/index2.html|LRG_26|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_26.xml" 613927 119106 S01.194 HGNC:1248 "ENST00000299367.10|NM_000063.6" HGNC:49464 C2-AS1 C2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 Antisense RNAs 1987 2013-12-06 2016-10-05 102060414 ENSG00000281756 OTTHUMG00000189556 BX100594 NR_104191 C2-AS1 HGNC:49464 -HGNC:1266 C2CD2 C2 calcium dependent domain containing 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "TMEM24L|DKFZP586F0422|C21orf258" TMEM24-like C21orf25 chromosome 21 open reading frame 25 C2 domain containing 823 2000-05-23 2007-10-17 2016-06-08 2023-01-20 25966 ENSG00000157617 OTTHUMG00000086779 uc002yzv.4 AB047784 NM_015500 "CCDS13677|CCDS42933" Q9Y426 15289880 MGI:1891883 RGD:735112 617581 HGNC:1266 "ENST00000380486.4|NM_015500.2" +HGNC:1266 C2CD2 C2 calcium dependent domain containing 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "TMEM24L|DKFZP586F0422|C21orf258" TMEM24-like C21orf25 chromosome 21 open reading frame 25 C2 domain containing 823 2000-05-23 2007-10-17 2016-06-08 2023-01-20 25966 ENSG00000157617 OTTHUMG00000086779 uc002yzv.4 AB047784 NM_015500 "CCDS42933|CCDS13677" Q9Y426 15289880 MGI:1891883 RGD:735112 617581 HGNC:1266 "ENST00000380486.4|NM_015500.2" HGNC:29000 C2CD2L C2CD2 like protein-coding gene gene with protein product Approved 11q23.3 11q23.3 KIAA0285 TMEM24 transmembrane protein 24 2004-04-06 2008-04-22 2016-01-19 2023-01-20 9854 ENSG00000172375 OTTHUMG00000166167 uc001pvn.4 AK025223 NM_014807 "CCDS91609|CCDS8413" O14523 "15289880|28209843|30819882" MGI:1919014 RGD:1310281 617582 HGNC:29000 "ENST00000648610.2|NM_001290474.2" HGNC:24564 C2CD3 C2 domain containing 3 centriole elongation regulator protein-coding gene gene with protein product Approved 11q13.4 11q13.4 DKFZP586P0123 C2 calcium dependent domain containing 3 C2 domain containing 823 2007-10-17 2019-06-12 2023-01-20 26005 ENSG00000168014 OTTHUMG00000168110 uc001ouu.4 BC035599 NM_015531 "CCDS66167|CCDS31636" Q4AC94 MGI:2142166 RGD:1307366 615944 434225 HGNC:24564 "ENST00000334126.12|NM_001286577.2" HGNC:24564 HGNC:33627 C2CD4A C2 calcium dependent domain containing 4A protein-coding gene gene with protein product Approved 15q22.2 15q22.2 NLF1 nuclear localized factor 1 FAM148A family with sequence similarity 148, member A C2 domain containing 823 2007-10-18 2009-09-28 2016-06-08 2023-01-20 145741 ENSG00000198535 OTTHUMG00000171942 uc002ahf.4 AF504646 NM_207322 CCDS32258 Q8NCU7 MGI:3645763 RGD:1596010 610343 HGNC:33627 "ENST00000355522.5|NM_207322.3" @@ -2885,14 +2885,14 @@ HGNC:33628 C2CD4B C2 calcium dependent domain containing 4B protein-coding gene HGNC:29417 C2CD4C C2 calcium dependent domain containing 4C protein-coding gene gene with protein product Approved 19p13.3 19p13.3 NLF3 nuclear localized factor 3 "KIAA1957|FAM148C" "KIAA1957|family with sequence similarity 148, member C" C2 domain containing 823 2004-02-12 2009-09-28 2016-06-08 2023-01-20 126567 ENSG00000183186 OTTHUMG00000180534 uc002loo.5 AB075837 NM_001136263 CCDS45890 Q8TF44 11853319 MGI:2685084 RGD:1561354 610336 HGNC:29417 "ENST00000332235.8|NM_001136263.2" HGNC:37210 C2CD4D C2 calcium dependent domain containing 4D protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FAM148D family with sequence similarity 148, member D C2 domain containing 823 2009-09-28 2016-06-08 2023-01-20 100191040 ENSG00000225556 OTTHUMG00000167218 uc010pdq.2 BC171843 NM_001136003 CCDS44224 B7Z1M9 MGI:2685505 RGD:2324777 HGNC:37210 "ENST00000694868.1|NM_001394591.1" HGNC:54045 C2CD4D-AS1 C2CD4D and THEM5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 Antisense RNAs 1987 2018-09-26 2021-12-02 100132111 ENSG00000234614 NR_152846 34850664 HGNC:54045 -HGNC:29062 C2CD5 C2 calcium dependent domain containing 5 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 CDP138 138 kDa C2 domain-containing phosphoprotein KIAA0528 KIAA0528 C2 domain containing 823 2006-01-17 2012-12-13 2016-06-08 2023-01-20 9847 ENSG00000111731 OTTHUMG00000169100 uc001rfq.5 AB011100 NM_014802 "CCDS31758|CCDS66340|CCDS66339|CCDS66338|CCDS66337" Q86YS7 "21907143|25096995" MGI:1921991 RGD:1304592 618044 HGNC:29062 "ENST00000446597.6|NM_001286176.2" +HGNC:29062 C2CD5 C2 calcium dependent domain containing 5 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 CDP138 138 kDa C2 domain-containing phosphoprotein KIAA0528 KIAA0528 C2 domain containing 823 2006-01-17 2012-12-13 2016-06-08 2023-01-20 9847 ENSG00000111731 OTTHUMG00000169100 uc001rfq.5 AB011100 NM_014802 "CCDS66339|CCDS31758|CCDS66340|CCDS66337|CCDS66338" Q86YS7 "21907143|25096995" MGI:1921991 RGD:1304592 618044 HGNC:29062 "ENST00000446597.6|NM_001286176.2" HGNC:55961 C2CD5-AS1 C2CD5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Antisense RNAs 1987 2021-11-10 2021-11-10 105369692 ENSG00000250166 XR_001749044 -HGNC:14438 C2CD6 C2 calcium dependent domain containing 6 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ25351 ALS2CR11 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11|amyotrophic lateral sclerosis 2 chromosome region candidate 11" C2 domain containing 823 2001-01-26 2017-02-13 2017-02-13 2023-01-20 151254 ENSG00000155754 OTTHUMG00000132830 uc002uye.4 AB053313 NM_152525 "CCDS54428|CCDS2349|CCDS54430|CCDS54429" Q53TS8 "11586298|34998468" "MGI:1920713|MGI:5592748" RGD:1565450 619776 HGNC:14438 "ENST00000439140.6|NM_001168221.2" +HGNC:14438 C2CD6 C2 calcium dependent domain containing 6 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ25351 ALS2CR11 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11|amyotrophic lateral sclerosis 2 chromosome region candidate 11" C2 domain containing 823 2001-01-26 2017-02-13 2017-02-13 2023-01-20 151254 ENSG00000155754 OTTHUMG00000132830 uc002uye.4 AB053313 NM_152525 "CCDS54429|CCDS2349|CCDS54430|CCDS54428" Q53TS8 "11586298|34998468" "MGI:1920713|MGI:5592748" RGD:1565450 619776 HGNC:14438 "ENST00000439140.6|NM_001168221.2" HGNC:28436 C2orf15 chromosome 2 open reading frame 15 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 MGC29762 2004-01-09 2023-01-20 150590 ENSG00000273045 OTTHUMG00000130635 uc002szk.4 BC021264 NM_144706 CCDS2038 Q8WU43 HGNC:28436 "ENST00000650052.2|NM_144706.4" HGNC:25275 C2orf16 chromosome 2 open reading frame 16 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 DKFZp434G118 P-S-E-R-S-H-H-S repeats containing 2004-01-09 2023-03-22 84226 ENSG00000221843 OTTHUMG00000159099 uc002rkz.5 AL136898 NM_032266 Q68DN1 36896575 MGI:3045298 RGD:7513610 HGNC:25275 "ENST00000447166.3|NM_032266.5" HGNC:25077 C2orf27A chromosome 2 open reading frame 27A non-coding RNA RNA, long non-coding Approved 2q21.2 02q21.2 C2orf27 chromosome 2 open reading frame 27 2004-05-10 2009-04-02 2009-04-02 2023-03-15 29798 ENSG00000287151 OTTHUMG00000131666 AF038169 NR_149013 P0DPF5 "9110174|8619474" HGNC:25077 HGNC:26056 C2orf42 chromosome 2 open reading frame 42 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 FLJ20558 2006-07-26 2023-01-20 54980 ENSG00000115998 OTTHUMG00000129642 uc002sgh.4 AK000565 NM_017880 CCDS1899 Q9NWW7 12477932 MGI:2141787 RGD:1306746 HGNC:26056 "ENST00000264434.7|NM_017880.3" -HGNC:28772 C2orf49 chromosome 2 open reading frame 49 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 "MGC5509|asw" ashwin tRNA splicing ligase complex 1345 2006-09-08 2023-01-20 79074 ENSG00000135974 OTTHUMG00000130808 uc002tcs.3 BC001310 NM_024093 "CCDS74550|CCDS2068" Q9BVC5 "16680723|24870230" MGI:2138299 RGD:1310553 HGNC:28772 "ENST00000258457.7|NM_024093.3" +HGNC:28772 C2orf49 chromosome 2 open reading frame 49 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 "MGC5509|asw" ashwin tRNA splicing ligase complex 1345 2006-09-08 2023-01-20 79074 ENSG00000135974 OTTHUMG00000130808 uc002tcs.3 BC001310 NM_024093 "CCDS2068|CCDS74550" Q9BVC5 "16680723|24870230" MGI:2138299 RGD:1310553 HGNC:28772 "ENST00000258457.7|NM_024093.3" HGNC:55178 C2orf49-DT C2orf49 divergent transcript non-coding RNA RNA, long non-coding Approved 2q12.2 02q12.2 Divergent transcripts 1990 2020-08-06 2020-08-06 100506473 ENSG00000272994 HGNC:26324 C2orf50 chromosome 2 open reading frame 50 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 FLJ25143 2006-10-26 2023-01-20 130813 ENSG00000150873 OTTHUMG00000119057 uc010yjj.2 AK057872 NM_182500 CCDS1678 Q96LR7 12477932 MGI:1920917 RGD:1582838 HGNC:26324 "ENST00000381585.8|NM_001371321.1" HGNC:33809 C2orf66 chromosome 2 open reading frame 66 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 UNQ6411 2007-12-18 2012-12-03 2012-12-03 2023-01-20 401027 ENSG00000187944 OTTHUMG00000132742 uc002utv.4 NM_213608 CCDS2317 Q6UXQ4 MGI:5593225 RGD:1586666 HGNC:33809 "ENST00000342506.4|NM_213608.3" @@ -2911,15 +2911,15 @@ HGNC:27941 C2orf74-DT C2orf74 divergent transcript non-coding RNA RNA, long non- HGNC:27017 C2orf76 chromosome 2 open reading frame 76 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "MGC104437|LOC130355|AIM29" 2008-07-10 2023-01-20 130355 ENSG00000186132 OTTHUMG00000153298 uc002tlu.3 NM_001017927 CCDS42739 Q3KRA6 12477932 MGI:1920353 RGD:1594584 HGNC:27017 "ENST00000334816.12|NM_001322331.2" HGNC:34349 C2orf78 chromosome 2 open reading frame 78 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "FLJ43987|hCG1989538|COG5373" 2008-07-18 2023-01-20 388960 ENSG00000187833 OTTHUMG00000152819 uc002sjr.1 "AC092653|AC136006|AK125975" NM_001080474 CCDS46338 A6NCI8 "MGI:2685327|MGI:3647631|MGI:3648691|MGI:3648692|MGI:3649090" RGD:1582830 HGNC:34349 "ENST00000409561.2|NM_001080474.3" HGNC:34352 C2orf80 chromosome 2 open reading frame 80 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "LOC389073|GONDA1" gonad development associated 1 2008-07-18 2023-01-20 389073 ENSG00000188674 OTTHUMG00000154751 uc002vcr.4 "AC016697|AW136505|BC035737" NM_001099334 CCDS42809 Q0P641 "22080834|24055526|25681390" MGI:2138198 615536 HGNC:34352 "ENST00000341287.9|NM_001099334.3" -HGNC:34350 C2orf81 chromosome 2 open reading frame 81 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "LOC388963|hCG40743" 2008-07-18 2023-03-15 388963 ENSG00000284308 OTTHUMG00000164184 uc010yrq.2 "AC005041|CH471053" NM_001145054 "CCDS86853|CCDS92782" A6NN90 15815621 MGI:1919087 RGD:1566019 HGNC:34350 "ENST00000684111.1|NM_001316764.3" +HGNC:34350 C2orf81 chromosome 2 open reading frame 81 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "LOC388963|hCG40743" 2008-07-18 2023-03-15 388963 ENSG00000284308 OTTHUMG00000164184 uc010yrq.2 "AC005041|CH471053" NM_001145054 "CCDS92782|CCDS86853" A6NN90 15815621 MGI:1919087 RGD:1566019 HGNC:34350 "ENST00000684111.1|NM_001316764.3" HGNC:25344 C2orf83 chromosome 2 open reading frame 83 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 DKFZp547H025 2008-09-16 2023-03-15 56918 ENSG00000042304 OTTHUMG00000153550 uc002vph.4 NM_020161 Q53S99 HGNC:25344 HGNC:28191 C2orf88 chromosome 2 open reading frame 88 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "MGC13057|smAKAP" small membrane AKAP A-kinase anchoring proteins 396 2009-04-08 2009-04-08 2023-01-20 84281 ENSG00000187699 OTTHUMG00000154361 uc002urq.4 BC005083 NM_032321 CCDS42792 Q9BSF0 "23996002|27028580" MGI:1914330 RGD:1596493 615117 HGNC:28191 "ENST00000340623.4|NM_001042519.2" -HGNC:49272 C2orf92 chromosome 2 open reading frame 92 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 LINC01125 long intergenic non-protein coding RNA 1125 2013-10-15 2017-08-16 2017-08-16 2023-01-20 728537 ENSG00000228486 OTTHUMG00000153062 NM_001351368 "CCDS86862|CCDS92816" A0A1B0GVN3 MGI:1918416 RGD:6501168 LINC01125 HGNC:49272 "ENST00000627399.4|NM_001351368.2" +HGNC:49272 C2orf92 chromosome 2 open reading frame 92 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 LINC01125 long intergenic non-protein coding RNA 1125 2013-10-15 2017-08-16 2017-08-16 2023-01-20 728537 ENSG00000228486 OTTHUMG00000153062 NM_001351368 "CCDS92816|CCDS86862" A0A1B0GVN3 MGI:1918416 RGD:6501168 LINC01125 HGNC:49272 "ENST00000627399.4|NM_001351368.2" HGNC:1318 C3 complement C3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CPAMD1|ARMD9|C3a|C3b" "C3a anaphylatoxin|complement component C3a|complement component C3b|prepro-C3" complement component 3 "Receptor ligands|C3 and PZP like, alpha-2-macroglobulin domain containing|Complement system activation components" "542|1234|1638" 2001-06-22 2016-08-10 2023-01-20 718 ENSG00000125730 OTTHUMG00000150335 uc002mfm.4 J04763 NM_000064 CCDS32883 P01024 MGI:88227 RGD:2232 "C3base: Mutation registry for C3 deficiency|http://structure.bmc.lu.se/idbase/C3base/index2.html|LRG_27|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_27.xml" 120700 160064 I39.950 ligandId:9414 3.4.21.43 HGNC:1318 "ENST00000245907.11|NM_000064.4" HGNC:1318 HGNC:1319 C3AR1 complement C3a receptor 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "C3AR|AZ3B" complement component 3a receptor 1 "Complement component GPCRs|Complement system regulators and receptors" "196|1639" 1997-05-22 2016-08-10 2023-01-20 719 ENSG00000171860 OTTHUMG00000168569 uc001qtv.2 U28488 NM_004054 CCDS8588 Q16581 8605247 MGI:1097680 RGD:620537 605246 objectId:31 HGNC:1319 "ENST00000307637.5|NM_004054.4" HGNC:1320 C3CER1 chromosome 3 common eliminated region 1 other region Approved 3p22-p21.2 03p22-p21.2 CER1 1999-08-05 2019-10-10 23739 "9408748|10610706|11896456" -HGNC:24837 C3orf18 chromosome 3 open reading frame 18 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 G20 2005-01-10 2023-01-20 51161 ENSG00000088543 OTTHUMG00000156854 uc003dat.4 AF188706 NM_016210 "CCDS2829|CCDS54589" Q9UK00 12477932 MGI:2445137 RGD:1307461 HGNC:24837 "ENST00000357203.8|NM_016210.5" -HGNC:25320 C3orf20 chromosome 3 open reading frame 20 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 DKFZP434N1817 2005-01-19 2023-01-20 84077 ENSG00000131379 OTTHUMG00000155545 uc003byy.4 AL136781 NM_032137 "CCDS33706|CCDS54555" Q8ND61 "11230166|35456561" MGI:2685917 RGD:1560289 619992 HGNC:25320 "ENST00000253697.8|NM_032137.5" HGNC:25320 +HGNC:24837 C3orf18 chromosome 3 open reading frame 18 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 G20 2005-01-10 2023-01-20 51161 ENSG00000088543 OTTHUMG00000156854 uc003dat.4 AF188706 NM_016210 "CCDS54589|CCDS2829" Q9UK00 12477932 MGI:2445137 RGD:1307461 HGNC:24837 "ENST00000357203.8|NM_016210.5" +HGNC:25320 C3orf20 chromosome 3 open reading frame 20 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 DKFZP434N1817 2005-01-19 2023-01-20 84077 ENSG00000131379 OTTHUMG00000155545 uc003byy.4 AL136781 NM_032137 "CCDS54555|CCDS33706" Q8ND61 "11230166|35456561" MGI:2685917 RGD:1560289 619992 HGNC:25320 "ENST00000253697.8|NM_032137.5" HGNC:25320 HGNC:28534 C3orf22 chromosome 3 open reading frame 22 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 MGC34728 2005-04-08 2023-01-20 152065 ENSG00000180697 OTTHUMG00000162731 uc003ejb.4 NM_152533 CCDS3040 Q8N5N4 12477932 MGI:2679261 RGD:1587811 HGNC:28534 "ENST00000318225.3|NM_152533.3" HGNC:26434 C3orf33 chromosome 3 open reading frame 33 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "FLJ31139|AC3-33" 2006-01-02 2023-01-20 285315 ENSG00000174928 OTTHUMG00000158496 uc062pfq.1 AF115515 NM_173657 "CCDS77843|CCDS54659" Q6P1S2 "20680465|26137149" MGI:3607716 RGD:1565059 619654 HGNC:26434 "ENST00000340171.7|NM_001308229.2" HGNC:26170 C3orf36 chromosome 3 putative open reading frame 36 other unknown Approved 3q22.1 03q22.1 FLJ22173 chromosome 3 open reading frame 36 2006-01-02 2020-08-07 2023-03-15 80111 ENSG00000288547 OTTHUMG00000187161 uc003epz.2 AK025826 NR_161373 Q3SXR2 12477932 HGNC:26170 @@ -2943,7 +2943,7 @@ HGNC:1325 C4BPA complement component 4 binding protein alpha protein-coding gene HGNC:1326 C4BPAP1 C4BPA pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 C4BPAL1 "complement component 4-binding protein, alpha-like 1|complement component 4 binding protein, alpha pseudogene 1" 1991-09-12 2010-10-11 2019-01-18 2019-01-18 727859 ENSG00000224462 OTTHUMG00000036251 NG_006475 2352933 PGOHUM00000296745 HGNC:1326 HGNC:1327 C4BPAP2 C4BPA pseudogene 2 pseudogene pseudogene Approved 1q32.2 01q32.2 C4BPAL2 "complement component 4-binding protein, alpha-like 2|complement component 4 binding protein, alpha-like 2|complement component 4 binding protein, alpha pseudogene 2" 1995-08-29 2010-10-11 2019-01-18 2019-01-18 724 ENSG00000232621 OTTHUMG00000036252 X81360 NG_002761 7806286 PGOHUM00000245186 HGNC:1327 HGNC:51640 C4BPAP3 C4BPA pseudogene 3 pseudogene pseudogene Approved 1q32.2 01q32.2 complement component 4 binding protein, alpha pseudogene 3 2015-04-08 2019-01-18 2019-01-18 100421610 NG_027197 PGOHUM00000296746 HGNC:51640 -HGNC:1328 C4BPB complement component 4 binding protein beta protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "complement component 4 binding protein, beta chain|C4b binding protein, beta chain" C4BP complement component 4-binding protein, beta "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1990-06-13 2016-02-29 2023-01-20 725 ENSG00000123843 OTTHUMG00000036035 uc057oyu.1 L11245 NM_000716 "CCDS31005|CCDS1476" P20851 "2300577|8325877" RGD:2236 LRG_603|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_603.xml 120831 HGNC:1328 "ENST00000367078.8|NM_001017365.3" +HGNC:1328 C4BPB complement component 4 binding protein beta protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "complement component 4 binding protein, beta chain|C4b binding protein, beta chain" C4BP complement component 4-binding protein, beta "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1990-06-13 2016-02-29 2023-01-20 725 ENSG00000123843 OTTHUMG00000036035 uc057oyu.1 L11245 NM_000716 "CCDS1476|CCDS31005" P20851 "2300577|8325877" RGD:2236 LRG_603|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_603.xml 120831 HGNC:1328 "ENST00000367078.8|NM_001017365.3" HGNC:19225 C4orf3 chromosome 4 open reading frame 3 protein-coding gene gene with protein product Approved 4q26 04q26 "HCVFTP1|ALN" "HCV F-transactivated protein 1|another-regulin" 2008-12-09 2023-01-20 401152 ENSG00000164096 OTTHUMG00000161333 uc021xrf.1 NM_001001701 "CCDS54798|CCDS43266" Q8WVX3 27923914 MGI:1914954 RGD:1594660 HGNC:19225 "ENST00000504110.2|NM_001001701.4" HGNC:25274 C4orf17 chromosome 4 open reading frame 17 protein-coding gene gene with protein product Approved 4q23 04q23 DKFZP434G072 2004-11-26 2023-01-20 84103 ENSG00000138813 OTTHUMG00000131027 uc003huw.3 AL136838 NM_032149 CCDS3649 Q53FE4 "11230166|18336583" MGI:1914991 RGD:1309170 HGNC:25274 "ENST00000326581.9|NM_032149.3" HGNC:25618 C4orf19 chromosome 4 open reading frame 19 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ11017 2006-03-24 2023-03-20 55286 ENSG00000154274 OTTHUMG00000128580 uc003gsw.5 BC037906 NM_018302 CCDS3442 Q8IY42 "35281862|36882524" MGI:1923511 RGD:1561612 HGNC:25618 "ENST00000381980.9|NM_001104629.2" @@ -2964,7 +2964,7 @@ HGNC:1338 C5AR1 complement C5a receptor 1 protein-coding gene gene with protein HGNC:4527 C5AR2 complement C5a receptor 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 C5L2 GPR77 "G protein-coupled receptor 77|complement component 5a receptor 2" Complement component GPCRs 196 2000-01-20 2013-01-28 2021-04-20 2023-01-20 27202 ENSG00000134830 OTTHUMG00000183505 uc010ela.2 AB038237 NM_018485 CCDS12699 Q9P296 11165367 MGI:2442013 RGD:1303027 609949 objectId:33 HGNC:4527 "ENST00000595464.3|NM_001271749.2" HGNC:20656 C5orf15 chromosome 5 open reading frame 15 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KCT2|HTGN29" keratinocyte associated transmembrane protein 2 2004-04-27 2023-03-22 56951 ENSG00000113583 OTTHUMG00000129125 uc003kyo.4 AF226055 NM_020199 CCDS4167 Q8NC54 36639648 MGI:2654705 RGD:1310352 HGNC:20656 "ENST00000231512.5|NM_020199.3" HGNC:25639 C5orf22 chromosome 5 open reading frame 22 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 FLJ11193 2006-03-24 2023-01-20 55322 ENSG00000082213 OTTHUMG00000131067 uc003jhj.4 AK002055 NM_018356 CCDS3895 Q49AR2 MGI:1925127 RGD:1306502 HGNC:25639 "ENST00000325366.14|NM_018356.3" -HGNC:26746 C5orf24 chromosome 5 open reading frame 24 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ37562 2006-04-03 2023-01-20 134553 ENSG00000181904 OTTHUMG00000129121 uc003kzz.4 BC053677 NM_152409 "CCDS75307|CCDS4179" Q7Z6I8 12477932 MGI:1925771 RGD:1566359 HGNC:26746 "ENST00000394976.4|NM_001135586.1" +HGNC:26746 C5orf24 chromosome 5 open reading frame 24 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ37562 2006-04-03 2023-01-20 134553 ENSG00000181904 OTTHUMG00000129121 uc003kzz.4 BC053677 NM_152409 "CCDS4179|CCDS75307" Q7Z6I8 12477932 MGI:1925771 RGD:1566359 HGNC:26746 "ENST00000394976.4|NM_001135586.1" HGNC:24738 C5orf34 chromosome 5 open reading frame 34 protein-coding gene gene with protein product Approved 5p12 05p12 FLJ32363 2006-10-26 2023-01-20 375444 ENSG00000172244 OTTHUMG00000131151 uc003jnz.3 AK056925 NM_198566 CCDS3946 Q96MH7 30771479 MGI:1914642 RGD:1306227 HGNC:24738 "ENST00000306862.7|NM_198566.4" HGNC:41061 C5orf34-AS1 C5orf34 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p12 05p12 Antisense RNAs 1987 2019-07-24 2021-04-14 105374749 ENSG00000248554 OTTHUMG00000162234 XR_007058763 HGNC:41061 HGNC:33768 C5orf46 chromosome 5 open reading frame 46 protein-coding gene gene with protein product Approved 5q32 05q32 "MGC23985|SSSP1|AP-64" skin and saliva secreted protein 1 2008-07-14 2023-01-20 389336 ENSG00000178776 OTTHUMG00000163420 uc003lou.4 NM_206966 CCDS34267 Q6UWT4 "33804835|31308252" MGI:2684940 RGD:1563060 HGNC:33768 "ENST00000318315.5|NM_206966.3" @@ -2972,7 +2972,7 @@ HGNC:27026 C5orf47 chromosome 5 open reading frame 47 protein-coding gene gene w HGNC:35121 C5orf52 chromosome 5 open reading frame 52 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 2008-09-11 2023-01-20 100190949 ENSG00000187658 OTTHUMG00000154518 uc011ddt.3 BG721329 NM_001145132 CCDS47329 A6NGY3 MGI:1914680 RGD:1308775 HGNC:35121 "ENST00000409999.4|NM_001145132.2" HGNC:37272 C5orf58 chromosome 5 open reading frame 58 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 2009-09-30 2023-01-20 133874 ENSG00000234511 OTTHUMG00000163122 uc003mal.3 BC030767 NM_001102609 CCDS47338 C9J3I9 MGI:1924124 RGD:11411272 HGNC:37272 "ENST00000593851.5|NM_001102609.3" HGNC:27753 C5orf60 chromosome 5 open reading frame 60 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 2009-10-02 2023-03-15 285679 ENSG00000204661 OTTHUMG00000163221 uc003mki.4 BC043435 NM_001142306 A6NFR6 12477932 RGD:1562630 HGNC:27753 -HGNC:40051 C5orf63 chromosome 5 open reading frame 63 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "YDR286C|FLJ44606" 2011-05-05 2023-01-20 401207 ENSG00000164241 OTTHUMG00000163037 uc021ydc.1 AK126569 NM_001164478 "CCDS93776|CCDS54896|CCDS54895|CCDS93775" A6NC05 MGI:1924672 RGD:2299854 HGNC:40051 "ENST00000296662.10|NM_001164478.2" +HGNC:40051 C5orf63 chromosome 5 open reading frame 63 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "YDR286C|FLJ44606" 2011-05-05 2023-01-20 401207 ENSG00000164241 OTTHUMG00000163037 uc021ydc.1 AK126569 NM_001164478 "CCDS54895|CCDS54896|CCDS93776|CCDS93775" A6NC05 MGI:1924672 RGD:2299854 HGNC:40051 "ENST00000296662.10|NM_001164478.2" HGNC:26744 C5orf64 chromosome 5 putative open reading frame 64 other unknown Approved 5q12.1 05q12.1 FLJ37543 chromosome 5 open reading frame 64 2011-05-05 2020-08-07 2023-03-15 285668 ENSG00000178722 OTTHUMG00000162412 uc063dxc.1 NR_126523 Q2M2E5 33309768 RGD:9403084 HGNC:26744 HGNC:52969 C5orf64-AS1 C5orf64 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q12.1 05q12.1 Antisense RNAs 1987 2016-12-22 2016-12-22 100506526 ENSG00000251575 OTTHUMG00000162439 NR_105000 HGNC:52969 HGNC:51252 C5orf67 chromosome 5 putative open reading frame 67 other unknown Approved 5q11.2 05q11.2 chromosome 5 open reading frame 67 2015-03-18 2020-08-07 2023-03-15 101928448 ENSG00000225940 OTTHUMG00000059482 NR_161255 F2Z3F1 31928498 HGNC:51252 @@ -2983,7 +2983,7 @@ HGNC:39767 C6orf47-AS1 C6orf47 antisense RNA 1 non-coding RNA RNA, long non-codi HGNC:20881 C6orf52 chromosome 6 open reading frame 52 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 2003-04-16 2007-06-07 2007-06-07 2023-01-20 347744 ENSG00000137434 OTTHUMG00000014240 uc011dij.3 BC016820 NM_001145020 "CCDS47371|CCDS87364" Q5T4I8 12477932 RGD:1562963 HGNC:20881 "ENST00000259983.8|NM_001145020.3" HGNC:20960 C6orf58 chromosome 6 open reading frame 58 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 LEG1 liver enriched gene 1 homolog 2003-04-24 2023-02-17 352999 ENSG00000184530 OTTHUMG00000015530 uc003qbh.5 BC062712 NM_001010905 CCDS34533 Q6P5S2 "26901320|33207190" MGI:1914969 RGD:1311933 HGNC:20960 "ENST00000329722.8|NM_001010905.3" HGNC:20998 C6orf62 chromosome 6 open reading frame 62 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "FLJ12619|DKFZP564G182|XTP12" HBV X-transactivated protein 12 2003-05-01 2023-01-20 81688 ENSG00000112308 OTTHUMG00000014361 uc003nel.5 AL136632 NM_030939 "CCDS4559|CCDS93869" Q9GZU0 11230166 MGI:2441726 RGD:6491729 HGNC:20998 "ENST00000378119.9|NM_030939.5" -HGNC:21114 C6orf89 chromosome 6 open reading frame 89 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "FLJ25357|BRAP" "bombesin receptor activated protein|amfion" 2003-05-20 2023-02-24 221477 ENSG00000198663 OTTHUMG00000014613 uc003omw.4 AK058086 NM_152734 "CCDS4827|CCDS69100|CCDS75444" Q6UWU4 "21857995|23460338|26460487" MGI:2136782 RGD:735065 616642 HGNC:21114 "ENST00000480824.7|NM_001286635.2" +HGNC:21114 C6orf89 chromosome 6 open reading frame 89 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "FLJ25357|BRAP" "bombesin receptor activated protein|amfion" 2003-05-20 2023-02-24 221477 ENSG00000198663 OTTHUMG00000014613 uc003omw.4 AK058086 NM_152734 "CCDS69100|CCDS4827|CCDS75444" Q6UWU4 "21857995|23460338|26460487" MGI:2136782 RGD:735065 616642 HGNC:21114 "ENST00000480824.7|NM_001286635.2" HGNC:21233 C6orf118 chromosome 6 open reading frame 118 protein-coding gene gene with protein product Approved 6q27 06q27 "MGC23884|bA85G2.1" TSNAXIP1 domain containing 2229 2003-05-29 2023-01-20 168090 ENSG00000112539 OTTHUMG00000015984 uc003qum.5 NM_144980 CCDS5288 Q5T5N4 "34318869|36598146" MGI:1914181 RGD:1598061 HGNC:21233 "ENST00000230301.9|NM_144980.4" HGNC:21247 C6orf120 chromosome 6 open reading frame 120 protein-coding gene gene with protein product Approved 6q27 06q27 bA160E12.4 2003-12-01 2023-01-20 387263 ENSG00000185127 OTTHUMG00000016057 uc003qxb.4 AF055030 NM_001029863 CCDS34575 Q7Z4R8 "22340178|29748000" MGI:1915162 RGD:1642424 616987 HGNC:21247 "ENST00000332290.4|NM_001029863.3" HGNC:21288 C6orf132 chromosome 6 open reading frame 132 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 bA7K24.2 2003-11-26 2023-01-20 647024 ENSG00000188112 OTTHUMG00000014695 uc003orw.3 NM_001164446 CCDS47428 Q5T0Z8 MGI:2146908 RGD:1561662 HGNC:21288 "ENST00000341865.9|NM_001164446.3" HGNC:21288 @@ -2995,7 +2995,7 @@ HGNC:1346 C7 complement C7 protein-coding gene gene with protein product Approve HGNC:21703 C7orf25 chromosome 7 open reading frame 25 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 MGC2821 2003-07-14 2023-01-20 79020 ENSG00000136197 OTTHUMG00000128869 uc064dbc.1 BC001845 NM_024054 CCDS5466 Q9BPX7 28575517 MGI:2145422 RGD:1308147 HGNC:21703 "ENST00000350427.5|NM_001099858.2" HGNC:21724 C7orf33 chromosome 7 open reading frame 33 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 2003-07-14 2023-01-20 202865 ENSG00000170279 OTTHUMG00000152756 uc003wew.3 BC021251 NM_145304 CCDS5890 Q8WU49 470024 HGNC:21724 "ENST00000307003.3|NM_145304.4" HGNC:22421 C7orf50 chromosome 7 open reading frame 50 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "MGC11257|YCR016W" MicroRNA protein coding host genes 1691 2007-06-15 2023-01-20 84310 ENSG00000146540 OTTHUMG00000151477 uc003sju.3 BC006224 NM_032350 CCDS5320 Q9BRJ6 MGI:1920462 RGD:1566418 HGNC:22421 "ENST00000397098.8|NM_001318252.2" -HGNC:22247 C7orf57 chromosome 7 open reading frame 57 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 2007-10-17 2023-01-20 136288 ENSG00000164746 OTTHUMG00000155808 uc003toh.6 BC031107 NM_001100159 "CCDS59054|CCDS75594|CCDS47583" Q8NEG2 MGI:3651127 RGD:1587626 HGNC:22247 "ENST00000348904.4|NM_001100159.3" +HGNC:22247 C7orf57 chromosome 7 open reading frame 57 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 2007-10-17 2023-01-20 136288 ENSG00000164746 OTTHUMG00000155808 uc003toh.6 BC031107 NM_001100159 "CCDS59054|CCDS47583|CCDS75594" Q8NEG2 MGI:3651127 RGD:1587626 HGNC:22247 "ENST00000348904.4|NM_001100159.3" HGNC:1352 C8A complement C8 alpha chain protein-coding gene gene with protein product Approved 1p32.2 01p32.2 "complement component 8, alpha polypeptide|complement component 8 alpha subunit" Complement system activation components 1638 2001-06-22 2016-08-10 2023-01-20 731 ENSG00000157131 OTTHUMG00000008306 uc001cyo.3 M16974 NM_000562 CCDS606 P07357 MGI:2668347 RGD:1308355 LRG_139|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_139.xml 120950 160117 HGNC:1352 "ENST00000361249.4|NM_000562.3" HGNC:1352 HGNC:1353 C8B complement C8 beta chain protein-coding gene gene with protein product Approved 1p32.2 01p32.2 complement component 8, beta polypeptide Complement system activation components 1638 2001-06-22 2016-08-10 2023-03-15 732 ENSG00000021852 OTTHUMG00000008305 uc001cyp.5 M16973 NM_000066 CCDS30730 P07358 MGI:88236 RGD:2239 "C8Bbase: Mutation registry for C8B deficiency|http://structure.bmc.lu.se/idbase/C8Bbase/|LRG_31|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_31.xml" 120960 160119 HGNC:1353 "ENST00000371237.9|NM_000066.4" HGNC:1353 HGNC:1354 C8G complement C8 gamma chain protein-coding gene gene with protein product Approved 9q34.3 09q34.3 complement component 8, gamma polypeptide "Lipocalins|Complement system activation components" "631|1638" 1988-05-11 2016-08-10 2023-01-20 733 ENSG00000176919 OTTHUMG00000020955 uc004cka.3 X06465 NM_000606 CCDS7017 P07360 MGI:88237 RGD:1309074 LRG_1211|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1211.xml 120930 160121 HGNC:1354 "ENST00000371634.7|NM_000606.3" @@ -3006,7 +3006,7 @@ HGNC:27840 C8orf34-AS1 C8orf34 antisense RNA 1 non-coding RNA RNA, long non-codi HGNC:25646 C8orf44 chromosome 8 putative open reading frame 44 other unknown Approved 8q13.1 08q13.1 FLJ11267 chromosome 8 open reading frame 44 2005-08-04 2005-08-09 2022-07-04 2023-03-15 56260 ENSG00000288596 OTTHUMG00000164562 uc003xwo.3 AK002129 NR_161216 Q96CB5 12477932 HGNC:25646 HGNC:48354 C8orf44-SGK3 C8orf44-SGK3 readthrough other readthrough Approved 8q13.1 08q13.1 2013-05-10 2021-07-29 100533105 ENSG00000288602 OTTHUMG00000183957 NM_001204173 MGI:2182368 HGNC:48354 HGNC:26345 C8orf48 chromosome 8 open reading frame 48 protein-coding gene gene with protein product Approved 8p22 08p22 FLJ25402 2005-08-11 2023-01-20 157773 ENSG00000164743 OTTHUMG00000165482 uc003wwp.4 AK058131 NM_001007090 CCDS47809 Q96LL4 33309715 MGI:2142538 RGD:1585243 HGNC:26345 "ENST00000297324.5|NM_001007090.3" -HGNC:32233 C8orf58 chromosome 8 open reading frame 58 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 FLJ34715 2005-09-02 2023-01-20 541565 ENSG00000241852 OTTHUMG00000154160 uc003xce.4 BC012750 NM_001013842 "CCDS75708|CCDS56527|CCDS34862" Q8NAV2 MGI:2145726 RGD:1308117 HGNC:32233 "ENST00000289989.10|NM_001013842.3" +HGNC:32233 C8orf58 chromosome 8 open reading frame 58 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 FLJ34715 2005-09-02 2023-01-20 541565 ENSG00000241852 OTTHUMG00000154160 uc003xce.4 BC012750 NM_001013842 "CCDS34862|CCDS75708|CCDS56527" Q8NAV2 MGI:2145726 RGD:1308117 HGNC:32233 "ENST00000289989.10|NM_001013842.3" HGNC:32296 C8orf74 chromosome 8 open reading frame 74 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 2005-09-23 2023-01-20 203076 ENSG00000171060 OTTHUMG00000163807 uc003wtd.1 BC038534 NM_001040032 CCDS47800 Q6P047 MGI:1915000 RGD:1565212 HGNC:32296 "ENST00000304519.10|NM_001040032.2" HGNC:25924 C8orf76 chromosome 8 open reading frame 76 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 FLJ14825 2005-09-23 2023-01-20 84933 ENSG00000189376 OTTHUMG00000172562 uc003yqc.3 AK027731 NM_032847 CCDS6341 Q96K31 "30733230|35884471" MGI:1923008 RGD:1310852 HGNC:25924 "ENST00000276704.6|NM_032847.3" HGNC:33826 C8orf82 chromosome 8 open reading frame 82 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 MGC70857 2008-07-18 2023-01-20 414919 ENSG00000213563 OTTHUMG00000165181 uc003zdp.2 NM_001001795 CCDS34970 Q6P1X6 12477932 MGI:1925941 RGD:1359663 HGNC:33826 "ENST00000524821.6|NM_001001795.2" @@ -3018,21 +3018,21 @@ HGNC:23433 C9orf40 chromosome 9 open reading frame 40 protein-coding gene gene w HGNC:23570 C9orf43 chromosome 9 open reading frame 43 protein-coding gene gene with protein product Approved 9q32 09q32 MGC17358 2003-11-24 2023-01-20 257169 ENSG00000157653 OTTHUMG00000020526 uc004bho.6 BC026884 NM_152786 CCDS6796 Q8TAL5 12477932 MGI:3045314 RGD:1563460 HGNC:23570 "ENST00000374165.6|NM_001278629.2" HGNC:23677 C9orf50 chromosome 9 open reading frame 50 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 FLJ35803 2005-12-22 2023-01-20 375759 ENSG00000179058 OTTHUMG00000020786 uc004byc.4 AK093122 NM_199350 CCDS35159 Q5SZB4 MGI:1923631 RGD:1311084 HGNC:23677 "ENST00000372478.5|NM_199350.4" HGNC:27037 C9orf57 chromosome 9 open reading frame 57 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 2004-01-06 2023-01-20 138240 ENSG00000204669 OTTHUMG00000020003 uc004aip.4 BC036255 NM_001128618 CCDS47980 Q5W0N0 12477932 MGI:3781620 RGD:6490675 HGNC:27037 "ENST00000651200.2|NM_001128618.2" -HGNC:28337 C9orf72 C9orf72-SMCR8 complex subunit protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "MGC23980|DENNL72|DENND9" chromosome 9 open reading frame 72 "DENN domain containing|SWC tripartite complex" "504|1695" 2004-01-06 2019-01-11 2023-01-20 203228 ENSG00000147894 OTTHUMG00000019716 uc022bfa.2 AL832467 NM_018325 "CCDS6522|CCDS6523" Q96LT7 "21944778|24549040|30356970" MGI:1920455 RGD:1359108 LRG_658|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_658.xml 614260 286546 HGNC:28337 "ENST00000380003.8|NM_018325.5" HGNC:28337 +HGNC:28337 C9orf72 C9orf72-SMCR8 complex subunit protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "MGC23980|DENNL72|DENND9" chromosome 9 open reading frame 72 "DENN domain containing|SWC tripartite complex" "504|1695" 2004-01-06 2019-01-11 2023-06-16 203228 ENSG00000147894 OTTHUMG00000019716 uc022bfa.2 AL832467 NM_018325 "CCDS6522|CCDS6523" Q96LT7 "21944778|24549040|30356970" MGI:1920455 RGD:1359108 LRG_658|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_658.xml 614260 286546 HGNC:28337 "ENST00000380003.8|NM_018325.5" HGNC:28337 HGNC:24932 C9orf78 chromosome 9 open reading frame 78 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "HSPC220|HCA59|CSU2" Hepatocellular carcinoma-associated antigen 59 Spliceosomal P complex 1516 2004-01-27 2023-01-20 51759 ENSG00000136819 OTTHUMG00000020796 uc004byp.4 BC017570 NM_016520 CCDS6931 Q9NZ63 "12097419|25245948|35241646" MGI:2385132 RGD:1305178 619569 HGNC:24932 "ENST00000372447.7|NM_016520.3" HGNC:56567 C9orf78P1 C9orf78 pseudogene 1 pseudogene pseudogene Approved 3q25.33 03q25.33 2022-11-02 2022-11-02 100420738 ENSG00000243116 NG_025654 PGOHUM00000299251 HGNC:56568 C9orf78P2 C9orf78 pseudogene 2 pseudogene pseudogene Approved 4p15.33 04p15.33 2022-11-02 2022-11-02 391636 ENSG00000224569 NG_030265 PGOHUM00000300157 -HGNC:28784 C9orf85 chromosome 9 open reading frame 85 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 MGC61599 2004-02-06 2023-03-15 138241 ENSG00000155621 OTTHUMG00000020002 uc004ain.4 BC010179 NM_182505 "CCDS6639|CCDS94421" Q96MD7 "12477932|36330220" MGI:1913456 RGD:1359158 HGNC:28784 "ENST00000334731.7|NM_182505.5" +HGNC:28784 C9orf85 chromosome 9 open reading frame 85 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 MGC61599 2004-02-06 2023-03-15 138241 ENSG00000155621 OTTHUMG00000020002 uc004ain.4 BC010179 NM_182505 "CCDS94421|CCDS6639" Q96MD7 "12477932|36330220" MGI:1913456 RGD:1359158 HGNC:28784 "ENST00000334731.7|NM_182505.5" HGNC:56317 C9orf85P1 C9orf85 pseudogene 1 pseudogene pseudogene Approved 2p16.2 02p16.2 2022-09-12 2022-09-12 124905935 HGNC:56318 C9orf85P2 C9orf85 pseudogene 2 pseudogene pseudogene Approved 3q26.33 03q26.33 2022-09-12 2022-09-12 100505642 ENSG00000244346 NG_030108 PGOHUM00000299296 -HGNC:31418 C9orf131 chromosome 9 open reading frame 131 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 MGC41945 2006-06-30 2023-04-12 138724 ENSG00000174038 OTTHUMG00000019853 uc003zvw.4 BC045643 NM_203299 "CCDS47962|CCDS6572|CCDS47961" Q5VYM1 36871790 MGI:1914567 RGD:2321337 HGNC:31418 "ENST00000312292.6|NM_203299.4" +HGNC:31418 C9orf131 chromosome 9 open reading frame 131 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 MGC41945 2006-06-30 2023-04-12 138724 ENSG00000174038 OTTHUMG00000019853 uc003zvw.4 BC045643 NM_203299 "CCDS6572|CCDS47961|CCDS47962" Q5VYM1 36871790 MGI:1914567 RGD:2321337 HGNC:31418 "ENST00000312292.6|NM_203299.4" HGNC:31455 C9orf152 chromosome 9 open reading frame 152 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 bA470J20.2 2004-04-20 2023-01-27 401546 ENSG00000188959 OTTHUMG00000020478 uc011lwk.3 BX648620 NM_001012993 CCDS35102 Q5JTZ5 MGI:2442889 RGD:1589037 HGNC:31455 "ENST00000400613.5|NM_001012993.3" HGNC:31456 C9orf153 chromosome 9 open reading frame 153 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 bA507D14.1 2004-04-20 2023-01-20 389766 ENSG00000187753 OTTHUMG00000020134 uc031teh.1 NM_001010907 CCDS35055 Q5TBE3 MGI:1918150 RGD:6488044 HGNC:31456 "ENST00000339137.7|NM_001276366.4" HGNC:26718 C9orf163 chromosome 9 putative open reading frame 163 other unknown Approved 9q34.3 09q34.3 FLJ36779 chromosome 9 open reading frame 163 2006-03-21 2020-08-07 2023-03-15 158055 ENSG00000196366 OTTHUMG00000131725 uc004chy.4 AK055336 NM_152571 Q8N9P6 HGNC:26718 HGNC:27421 C10orf53 chromosome 10 open reading frame 53 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 Em:AC069546.1 2004-05-27 2023-01-20 282966 ENSG00000178645 OTTHUMG00000018199 uc001jib.4 BC028127 NM_182554 "CCDS41521|CCDS31202" Q8N6V4 12477932 MGI:1914335 RGD:1586999 HGNC:27421 "ENST00000374111.8|NM_001042427.3" HGNC:31008 C10orf55 chromosome 10 putative open reading frame 55 other unknown Approved 10q22.2 10q22.2 bA417O11.3 "chromosome 10 open reading frame 55 (putative)|chromosome 10 open reading frame 55" 2004-05-27 2020-08-07 2023-03-15 414236 ENSG00000222047 OTTHUMG00000018496 uc057ueo.1 NR_160938 Q5SWW7 "21145461|28301587" HGNC:31008 HGNC:23294 C10orf62 chromosome 10 open reading frame 62 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 bA548K23.1 2004-05-27 2023-01-20 414157 ENSG00000203942 OTTHUMG00000018858 uc001koa.4 NM_001009997 CCDS31261 Q5T681 MGI:1914015 RGD:1588156 HGNC:23294 "ENST00000370640.5|NM_001009997.3" -HGNC:28716 C10orf67 chromosome 10 open reading frame 67 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "MGC46732|bA215C7.4" "LINC01552|C10orf115" "long intergenic non-protein coding RNA 1552|chromosome 10 open reading frame 115" 2004-02-04 2023-01-20 256815 ENSG00000179133 OTTHUMG00000017818 uc010qcx.3 BC035732 NM_153714 "CCDS91221|CCDS44365" Q8IYJ2 "27812135|34692117" MGI:1918087 RGD:1598031 HGNC:28716 "ENST00000636213.3|NM_001371909.1" +HGNC:28716 C10orf67 chromosome 10 open reading frame 67 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "MGC46732|bA215C7.4" "LINC01552|C10orf115" "long intergenic non-protein coding RNA 1552|chromosome 10 open reading frame 115" 2004-02-04 2023-01-20 256815 ENSG00000179133 OTTHUMG00000017818 uc010qcx.3 BC035732 NM_153714 "CCDS44365|CCDS91221" Q8IYJ2 "27812135|34692117" MGI:1918087 RGD:1598031 HGNC:28716 "ENST00000636213.3|NM_001371909.1" HGNC:55861 C10orf67-AS1 C10orf67 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.2 10p12.2 Antisense RNAs 1987 2021-09-03 2021-09-03 105376453 ENSG00000224215 NR_155752 HGNC:26973 C10orf71 chromosome 10 open reading frame 71 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "FLJ45913|CEFIP" cardiac enriched FHL2 interacting protein 2004-02-05 2023-06-05 118461 ENSG00000177354 OTTHUMG00000018190 uc021pqa.3 AL833265 NM_199459 CCDS44387 Q711Q0 "28717008|37179318" MGI:3588196 RGD:1564899 HGNC:26973 "ENST00000374144.8|NM_001135196.2" HGNC:45007 C10orf71-AS1 C10orf71 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.23 10q11.23 Antisense RNAs 1987 2013-01-07 2013-01-07 100506769 ENSG00000236208 OTTHUMG00000018189 uc031wgg.2 "AL598801|AL598689|DA764276" NR_108038 C10orf71-AS1 HGNC:45007 @@ -3046,16 +3046,16 @@ HGNC:25707 C10orf120 chromosome 10 open reading frame 120 protein-coding gene ge HGNC:28693 C10orf126 chromosome 10 open reading frame 126 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "MGC45541|bA492M23.1" 2004-04-28 2023-03-15 283080 OTTHUMG00000017878 uc031wat.2 BC033839 NM_001278522 Q8N4M7 12477932 HGNC:28693 HGNC:48677 C10orf143 chromosome 10 open reading frame 143 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 LINC00959 long intergenic non-protein coding RNA 959 2013-06-06 2017-09-06 2017-09-06 2023-01-20 387723 ENSG00000237489 OTTHUMG00000019268 NM_001355042 CCDS86157 A0A1B0GUT2 MGI:1924502 RGD:2318344 LINC00959 HGNC:48677 "ENST00000637128.2|NM_001355042.2" HGNC:1169 C11orf16 chromosome 11 open reading frame 16 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 2000-07-31 2023-01-20 56673 ENSG00000176029 OTTHUMG00000165654 uc001mhb.5 AJ400877 NM_020643 CCDS7794 Q9NQ32 11528127 MGI:1928824 RGD:1565905 HGNC:1169 "ENST00000326053.10|NM_020643.3" -HGNC:13231 C11orf21 chromosome 11 open reading frame 21 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 2001-10-05 2023-01-20 29125 ENSG00000110665 OTTHUMG00000009759 uc009ydj.3 AB029488 NM_001142946 "CCDS44518|CCDS86168" Q9P2W6 11054561 611033 HGNC:13231 "ENST00000381153.8|NM_001329958.2" +HGNC:13231 C11orf21 chromosome 11 open reading frame 21 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 2001-10-05 2023-01-20 29125 ENSG00000110665 OTTHUMG00000009759 uc009ydj.3 AB029488 NM_001142946 "CCDS86168|CCDS44518" Q9P2W6 11054561 611033 HGNC:13231 "ENST00000381153.8|NM_001329958.2" HGNC:1174 C11orf24 chromosome 11 open reading frame 24 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 DM4E3 2000-05-23 2023-01-20 53838 ENSG00000171067 OTTHUMG00000167478 uc001onr.5 AF264781 NM_022338 "CCDS73338|CCDS8180" Q96F05 "11401438|24312644" MGI:1919306 RGD:1311946 610880 HGNC:1174 "ENST00000304271.11|NM_022338.4" HGNC:23986 C11orf40 chromosome 11 putative open reading frame 40 other unknown Approved 11p15.4 11p15.4 NOV1 "chromosome 11 open reading frame 40 (putative)|chromosome 11 open reading frame 40" 2005-10-03 2020-08-07 2023-03-15 143501 ENSG00000171987 OTTHUMG00000165345 uc010qyg.2 AF439154 NR_172945 Q8WZ69 23762283 HGNC:23986 HGNC:28541 C11orf42 chromosome 11 open reading frame 42 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 MGC34805 2005-10-14 2023-01-20 160298 ENSG00000180878 OTTHUMG00000133377 uc001mcj.4 BC031612 NM_173525 CCDS7759 Q8N5U0 12477932 MGI:3643909 RGD:1561034 HGNC:28541 "ENST00000316375.3|NM_173525.3" HGNC:30531 C11orf52 chromosome 11 open reading frame 52 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "MGC14839|FLJ25219" 2006-02-06 2006-02-06 2023-01-20 91894 ENSG00000149300 OTTHUMG00000166888 uc058hgo.1 AK057948 NM_080659 CCDS8353 Q96A22 34739247 MGI:1914202 RGD:1586341 HGNC:30531 "ENST00000278601.6|NM_080659.3" -HGNC:30204 C11orf54 chromosome 11 open reading frame 54 protein-coding gene gene with protein product Approved 11q21 11q21 PTD012 2006-02-11 2023-01-20 28970 ENSG00000182919 OTTHUMG00000167452 uc001peh.5 AF092133 NM_014039 "CCDS8294|CCDS66204|CCDS73365|CCDS73366" Q9H0W9 16522806 MGI:1918234 RGD:1309534 615810 HGNC:30204 "ENST00000354421.8|NM_001286069.2" +HGNC:30204 C11orf54 chromosome 11 open reading frame 54 protein-coding gene gene with protein product Approved 11q21 11q21 PTD012 2006-02-11 2023-01-20 28970 ENSG00000182919 OTTHUMG00000167452 uc001peh.5 AF092133 NM_014039 "CCDS73366|CCDS66204|CCDS8294|CCDS73365" Q9H0W9 16522806 MGI:1918234 RGD:1309534 615810 HGNC:30204 "ENST00000354421.8|NM_001286069.2" HGNC:16990 C11orf58 chromosome 11 open reading frame 58 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 SMAP small acidic protein 2006-03-09 2023-03-15 10944 ENSG00000110696 OTTHUMG00000165910 uc001mmk.3 BC007103 NM_014267 CCDS7822 O00193 9263035 MGI:1929274 RGD:1311703 619625 HGNC:16990 "ENST00000228136.9|NM_014267.6" -HGNC:28519 C11orf65 chromosome 11 open reading frame 65 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "MGC33948|MFI" mitochondrial fission factor interactor 2006-03-10 2023-01-20 160140 ENSG00000166323 OTTHUMG00000166489 uc058hby.1 BC059411 NM_152587 "CCDS8340|CCDS81622" Q8NCR3 30059978 MGI:1922561 RGD:1311251 HGNC:28519 "ENST00000393084.6|NM_152587.5" -HGNC:28801 C11orf68 chromosome 11 open reading frame 68 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "P5326|BLES03" basophilic leukemia-expressed protein 2006-03-15 2023-01-20 83638 ENSG00000175573 OTTHUMG00000157153 uc009yqv.4 AF073483 NM_031450 "CCDS44652|CCDS8122" Q9H3H3 "16511166|25062915" MGI:2147598 RGD:628612 HGNC:28801 "ENST00000438576.3|NM_001135635.2" -HGNC:25937 C11orf71 chromosome 11 open reading frame 71 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 FLJ20010 2006-03-15 2023-01-20 54494 ENSG00000180425 OTTHUMG00000168247 uc284mzn.1 BC071695 NM_019021 "CCDS8369|CCDS76479" Q6IPW1 12477932 MGI:3643566 RGD:1563941 HGNC:25937 "ENST00000623205.2|NM_001271562.2" +HGNC:28519 C11orf65 chromosome 11 open reading frame 65 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "MGC33948|MFI" mitochondrial fission factor interactor 2006-03-10 2023-01-20 160140 ENSG00000166323 OTTHUMG00000166489 uc058hby.1 BC059411 NM_152587 "CCDS81622|CCDS8340" Q8NCR3 30059978 MGI:1922561 RGD:1311251 HGNC:28519 "ENST00000393084.6|NM_152587.5" +HGNC:28801 C11orf68 chromosome 11 open reading frame 68 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "P5326|BLES03" basophilic leukemia-expressed protein 2006-03-15 2023-01-20 83638 ENSG00000175573 OTTHUMG00000157153 uc009yqv.4 AF073483 NM_031450 "CCDS8122|CCDS44652" Q9H3H3 "16511166|25062915" MGI:2147598 RGD:628612 HGNC:28801 "ENST00000438576.3|NM_001135635.2" +HGNC:25937 C11orf71 chromosome 11 open reading frame 71 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 FLJ20010 2006-03-15 2023-01-20 54494 ENSG00000180425 OTTHUMG00000168247 uc284mzn.1 BC071695 NM_019021 "CCDS76479|CCDS8369" Q6IPW1 12477932 MGI:3643566 RGD:1563941 HGNC:25937 "ENST00000623205.2|NM_001271562.2" HGNC:34442 C11orf86 chromosome 11 open reading frame 86 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "FLJ22675|FACI" fasting and CREB-H induced 2008-07-18 2023-01-20 254439 ENSG00000173237 OTTHUMG00000153671 uc010rpm.3 "AK026328|AP003176" NM_001136485 "CCDS44656|CCDS91512" A6NJI1 35093589 MGI:1917111 RGD:1597421 HGNC:34442 "ENST00000683896.1|NM_001353554.2" HGNC:33788 C11orf87 chromosome 11 open reading frame 87 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "LOH11CR1A|LOC399947|NEURIM1" neuronal integral membrane protein 1 2008-07-22 2013-12-13 2013-12-13 2023-01-20 399947 ENSG00000185742 OTTHUMG00000166559 uc010rwb.3 "AB096240|BC035798" NM_207645 CCDS31672 Q6NUJ2 "31959813|32179078" MGI:2143099 RGD:1642426 HGNC:33788 "ENST00000327419.7|NM_207645.4" HGNC:34444 C11orf91 chromosome 11 open reading frame 91 protein-coding gene gene with protein product Approved 11p13 11p13 2008-09-16 2023-01-20 100131378 ENSG00000205177 OTTHUMG00000166320 uc001mur.3 AL049629 NM_001166692 CCDS53615 Q3C1V1 MGI:1915493 RGD:1563222 HGNC:34444 "ENST00000379011.5|NM_001166692.2" @@ -3065,15 +3065,15 @@ HGNC:51238 C11orf98 chromosome 11 open reading frame 98 protein-coding gene gene HGNC:49784 C11orf98P1 C11orf98 pseudogene 1 pseudogene pseudogene Approved 9p22.1 09p22.1 chromosome 11 open reading frame 98 pseudogene 1 2014-10-10 2022-09-12 2022-09-12 106480289 ENSG00000232158 OTTHUMG00000019645 NG_044174 PGOHUM00000236400 HGNC:49784 HGNC:56319 C11orf98P2 C11orf98 pseudogene 2 pseudogene pseudogene Approved 6q25.2 06q25.2 2022-09-12 2022-09-12 107986535 ENSG00000220745 PGOHUM00000301600 HGNC:56320 C11orf98P3 C11orf98 pseudogene 3 pseudogene pseudogene Approved 3p24.3 03p24.3 2022-09-12 2022-09-12 127138860 ENSG00000228171 NG_115683 PGOHUM00000298970 -HGNC:1184 C12orf4 chromosome 12 open reading frame 4 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 2000-08-24 2023-01-20 57102 ENSG00000047621 OTTHUMG00000168258 uc001qms.4 AJ272205 NM_020374 CCDS8528 Q9NQ89 "25122211|27311568|25558065|31106069" MGI:107893 RGD:1311164 616082 HGNC:1184 "ENST00000261250.8|NM_020374.4" +HGNC:1184 C12orf4 chromosome 12 open reading frame 4 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 FERRY complex subunits 2246 2000-08-24 2023-06-08 57102 ENSG00000047621 OTTHUMG00000168258 uc001qms.4 AJ272205 NM_020374 CCDS8528 Q9NQ89 "25122211|27311568|25558065|31106069" MGI:107893 RGD:1311164 616082 HGNC:1184 "ENST00000261250.8|NM_020374.4" HGNC:26846 C12orf40 chromosome 12 open reading frame 40 protein-coding gene gene with protein product Approved 12q12 12q12 FLJ40126 2006-01-23 2023-03-15 283461 ENSG00000180116 OTTHUMG00000133567 uc001rmc.5 AK097445 NM_173599 "CCDS81681|CCDS41770" Q86WS4 12477932 MGI:3613655 RGD:1584027 HGNC:26846 "ENST00000324616.9|NM_001031748.4" -HGNC:24729 C12orf42 chromosome 12 open reading frame 42 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 FLJ25323 2006-01-23 2023-01-20 374470 ENSG00000179088 OTTHUMG00000169988 uc009zuf.3 AK058052 NM_198521 "CCDS44963|CCDS91744" Q96LP6 20659153 MGI:1923890 RGD:1560034 HGNC:24729 "ENST00000548883.6|NM_198521.5" +HGNC:24729 C12orf42 chromosome 12 open reading frame 42 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 FLJ25323 2006-01-23 2023-01-20 374470 ENSG00000179088 OTTHUMG00000169988 uc009zuf.3 AK058052 NM_198521 "CCDS91744|CCDS44963" Q96LP6 20659153 MGI:1923890 RGD:1560034 HGNC:24729 "ENST00000548883.6|NM_198521.5" HGNC:56185 C12orf42-AS1 C12orf42 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q23.2 12q23.2 Antisense RNAs 1987 2022-01-17 2022-01-17 101929058 ENSG00000257860 NR_126333 -HGNC:25719 C12orf43 chromosome 12 open reading frame 43 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ12448|Custos" 2006-01-23 2023-01-20 64897 ENSG00000157895 OTTHUMG00000169150 uc001tzh.3 AK022510 NM_022895 "CCDS9210|CCDS66486|CCDS76613|CCDS66487" Q96C57 "8619474|9110174|25157132" MGI:1919607 RGD:1311899 HGNC:25719 "ENST00000288757.7|NM_022895.3" +HGNC:25719 C12orf43 chromosome 12 open reading frame 43 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ12448|Custos" 2006-01-23 2023-01-20 64897 ENSG00000157895 OTTHUMG00000169150 uc001tzh.3 AK022510 NM_022895 "CCDS66486|CCDS76613|CCDS9210|CCDS66487" Q96C57 "8619474|9110174|25157132" MGI:1919607 RGD:1311899 HGNC:25719 "ENST00000288757.7|NM_022895.3" HGNC:26665 C12orf50 chromosome 12 open reading frame 50 protein-coding gene gene with protein product Approved 12q21.32 12q21.32 FLJ35821 2006-01-24 2023-01-20 160419 ENSG00000165805 OTTHUMG00000169869 uc001tam.2 AK093140 NM_152589 "CCDS86321|CCDS9031" Q8NA57 12477932 MGI:1913855 RGD:1563125 HGNC:26665 "ENST00000298699.7|NM_152589.3" HGNC:28553 C12orf54 chromosome 12 open reading frame 54 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 MGC35033 2006-01-24 2023-01-20 121273 ENSG00000177627 OTTHUMG00000170019 uc001rrr.4 BC031670 NM_152319 CCDS8764 Q6X4T0 12477932 MGI:1920552 RGD:1590570 HGNC:28553 "ENST00000548364.7|NM_152319.4" -HGNC:26967 C12orf56 chromosome 12 open reading frame 56 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 2006-01-26 2023-01-20 115749 ENSG00000185306 OTTHUMG00000168782 uc001ssa.5 NM_001099676 "CCDS61182|CCDS44935" Q8IXR9 MGI:2442001 RGD:1561648 HGNC:26967 "ENST00000543942.7|NM_001170633.2" -HGNC:29521 C12orf57 chromosome 12 open reading frame 57 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "GRCC10|C10" gene rich cluster C10 gene 2006-01-27 2023-01-20 113246 ENSG00000111678 OTTHUMG00000169017 uc058knx.1 U47924 NM_138425 "CCDS76516|CCDS8571|CCDS76515" Q99622 "9445485|23453665|24798461|23453666" MGI:1315201 RGD:2318975 615140 331880 HGNC:29521 "ENST00000229281.6|NM_138425.4" HGNC:29521 +HGNC:26967 C12orf56 chromosome 12 open reading frame 56 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 2006-01-26 2023-01-20 115749 ENSG00000185306 OTTHUMG00000168782 uc001ssa.5 NM_001099676 "CCDS44935|CCDS61182" Q8IXR9 MGI:2442001 RGD:1561648 HGNC:26967 "ENST00000543942.7|NM_001170633.2" +HGNC:29521 C12orf57 chromosome 12 open reading frame 57 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "GRCC10|C10" gene rich cluster C10 gene 2006-01-27 2023-01-20 113246 ENSG00000111678 OTTHUMG00000169017 uc058knx.1 U47924 NM_138425 "CCDS76515|CCDS76516|CCDS8571" Q99622 "9445485|23453665|24798461|23453666" MGI:1315201 RGD:2318975 615140 331880 HGNC:29521 "ENST00000229281.6|NM_138425.4" HGNC:29521 HGNC:28726 C12orf60 chromosome 12 open reading frame 60 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 MGC47869 2006-02-10 2023-01-20 144608 ENSG00000182993 OTTHUMG00000167473 uc001rcj.5 BC038836 NM_175874 CCDS8667 Q5U649 12477932 MGI:3605234 RGD:1563896 HGNC:28726 "ENST00000330828.3|NM_175874.4" HGNC:34452 C12orf71 chromosome 12 open reading frame 71 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 LOC728858 2008-07-25 2023-01-20 728858 ENSG00000214700 OTTHUMG00000169274 uc001rhq.4 NM_001080406 CCDS44851 A8MTZ7 MGI:1920594 RGD:1592184 HGNC:34452 "ENST00000429849.3|NM_001080406.2" HGNC:56323 C12orf71BP chromosome 12 open reading frame 71B, pseudogene pseudogene pseudogene Approved 12p11.23 12p11.23 2022-09-12 2022-09-12 100506578 ENSG00000256056 PGOHUM00000291268 @@ -3084,14 +3084,14 @@ HGNC:42693 C13orf42 chromosome 13 open reading frame 42 protein-coding gene gene HGNC:53786 C13orf46 chromosome 13 open reading frame 46 protein-coding gene gene with protein product Approved 13q34 13q34 2017-11-30 2023-01-20 100507747 ENSG00000283199 OTTHUMG00000191740 NM_001365455 CCDS91842 A0A1B0GUA9 MGI:1913751 RGD:1565445 HGNC:53786 "ENST00000636427.3|NM_001365455.2" HGNC:19834 C14orf28 chromosome 14 open reading frame 28 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 "DRIP-1|DRIP1" dopamine receptor interacting protein 1 2002-11-27 2023-01-20 122525 ENSG00000179476 OTTHUMG00000170722 uc001wvo.4 AA496212 NM_001017923 CCDS32069 Q4W4Y0 "20874815|28455792" MGI:2685373 RGD:1307621 HGNC:19834 "ENST00000325192.8|NM_001017923.2" HGNC:19849 C14orf39 chromosome 14 open reading frame 39 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 SIX6OS1 2003-01-13 2012-11-05 2012-11-05 2023-01-20 317761 ENSG00000179008 OTTHUMG00000140332 uc001xez.5 AK098187 NM_174978 CCDS9746 Q8N1H7 27796301 MGI:1923051 RGD:1559456 617307 HGNC:19849 "ENST00000321731.8|NM_174978.3" -HGNC:20162 C14orf93 chromosome 14 open reading frame 93 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "FLJ12154|RTFC" regulator of thyroid function and cancer 2002-12-19 2023-03-09 60686 ENSG00000100802 OTTHUMG00000028712 uc001wie.5 AK023026 NM_021944 "CCDS9583|CCDS61400|CCDS61399" Q9H972 28230092 MGI:1921609 RGD:1565222 HGNC:20162 "ENST00000299088.11|NM_021944.4" +HGNC:20162 C14orf93 chromosome 14 open reading frame 93 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "FLJ12154|RTFC" regulator of thyroid function and cancer 2002-12-19 2023-03-09 60686 ENSG00000100802 OTTHUMG00000028712 uc001wie.5 AK023026 NM_021944 "CCDS61399|CCDS9583|CCDS61400" Q9H972 28230092 MGI:1921609 RGD:1565222 HGNC:20162 "ENST00000299088.11|NM_021944.4" HGNC:20270 C14orf119 chromosome 14 open reading frame 119 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ20671 2003-01-17 2023-01-20 55017 ENSG00000179933 OTTHUMG00000028717 uc001wiu.4 NM_017924 CCDS9588 Q9NWQ9 MGI:1920893 RGD:1308430 HGNC:20270 "ENST00000319074.6|NM_017924.4" -HGNC:20346 C14orf132 chromosome 14 open reading frame 132 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 C14orf88 chromosome 14 open reading frame 88 2003-01-28 2023-01-20 56967 ENSG00000227051 OTTHUMG00000171393 uc001yff.6 AL390130 NM_001252507 "CCDS81849|CCDS81847|CCDS81848" Q9NPU4 MGI:2443127 RGD:6501064 HGNC:20346 "ENST00000555004.3|NM_001252507.3" +HGNC:20346 C14orf132 chromosome 14 open reading frame 132 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 C14orf88 chromosome 14 open reading frame 88 2003-01-28 2023-01-20 56967 ENSG00000227051 OTTHUMG00000171393 uc001yff.6 AL390130 NM_001252507 "CCDS81848|CCDS81847|CCDS81849" Q9NPU4 MGI:2443127 RGD:6501064 HGNC:20346 "ENST00000555004.3|NM_001252507.3" HGNC:26385 C14orf178 chromosome 14 open reading frame 178 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ25976 2006-06-16 2023-03-15 283579 ENSG00000197734 OTTHUMG00000171528 uc021rwv.2 AK098842 NM_174943 Q8N769 12477932 HGNC:26385 HGNC:33795 C14orf180 chromosome 14 open reading frame 180 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 NRAC nutritionally-regulated adipose and cardiac-enriched C14orf77 chromosome 14 open reading frame 77 2007-11-21 2012-11-12 2012-11-12 2023-01-20 400258 ENSG00000184601 OTTHUMG00000029806 uc001yow.3 NM_001008404 "CCDS32166|CCDS66722" Q8N912 23029450 MGI:2443020 RGD:1583888 619392 HGNC:33795 "ENST00000557649.6|NM_001008404.3" HGNC:26549 C15orf32 chromosome 15 putative open reading frame 32 other unknown Approved 15q26.1 15q26.1 FLJ32831 chromosome 15 open reading frame 32 2005-07-25 2020-08-07 2023-03-15 145858 ENSG00000183643 OTTHUMG00000149844 uc002brc.2 NR_161370 Q32M92 HGNC:26549 HGNC:24497 C15orf39 chromosome 15 open reading frame 39 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "DKFZP434H132|FLJ46337" 2005-10-24 2005-10-24 2023-01-20 56905 ENSG00000167173 OTTHUMG00000142820 uc002azp.4 AK128205 NM_015492 CCDS10276 Q6ZRI6 MGI:1921461 RGD:1305464 HGNC:24497 "ENST00000394987.5|NM_015492.5" -HGNC:28443 C15orf40 chromosome 15 open reading frame 40 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 MGC29937 2005-10-24 2023-01-20 123207 ENSG00000169609 OTTHUMG00000160473 uc002bjm.4 BC019820 NM_144597 "CCDS53968|CCDS32312|CCDS53969" Q8WUR7 MGI:1914540 RGD:1305713 HGNC:28443 "ENST00000304177.10|NM_144597.3" +HGNC:28443 C15orf40 chromosome 15 open reading frame 40 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 MGC29937 2005-10-24 2023-01-20 123207 ENSG00000169609 OTTHUMG00000160473 uc002bjm.4 BC019820 NM_144597 "CCDS53969|CCDS53968|CCDS32312" Q8WUR7 MGI:1914540 RGD:1305713 HGNC:28443 "ENST00000304177.10|NM_144597.3" HGNC:29898 C15orf48 chromosome 15 open reading frame 48 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "NMES1|MIR147BHG|COXFA4L3|MOCCI|MISTRAV" "normal mucosa of esophagus specific 1|MIR147B host gene|cytochrome c oxidase subunit FA4 like 3|modulator of cytochrome C oxidase during inflammation|mitochondrial stress response antiviral" MicroRNA protein coding host genes 1691 2005-11-15 2023-05-19 84419 ENSG00000166920 OTTHUMG00000131424 uc001zvh.5 NM_032413 CCDS10124 Q9C002 "12209954|33837217" MGI:3034182 RGD:1359583 608409 HGNC:29898 "ENST00000396650.7|NM_197955.3" HGNC:34453 C15orf61 chromosome 15 open reading frame 61 protein-coding gene gene with protein product Approved 15q23 15q23 LOC145853 2008-07-25 2023-01-20 145853 ENSG00000189227 OTTHUMG00000172248 uc002aqs.4 NM_001143936 CCDS45289 A6NNL5 32107436 MGI:1916728 RGD:1309779 HGNC:34453 "ENST00000342683.6|NM_001143936.2" HGNC:34489 C15orf62 chromosome 15 open reading frame 62 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 LOC643338 2008-08-07 2023-01-20 643338 ENSG00000188277 OTTHUMG00000172536 uc010bby.5 NM_001130448 CCDS45229 A8K5M9 MGI:3651144 RGD:1583955 HGNC:34489 "ENST00000344320.8|NM_001130448.3" @@ -3103,28 +3103,28 @@ HGNC:28479 C16orf78 chromosome 16 open reading frame 78 protein-coding gene gene HGNC:30755 C16orf82 chromosome 16 open reading frame 82 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 TNT 2007-08-23 2023-03-15 162083 ENSG00000234186 OTTHUMG00000161986 uc059sig.1 BC031257 NM_001145545 Q7Z2V1 12477932 RGD:2304343 HGNC:30755 "ENST00000505035.3|NM_001145545.2" HGNC:33755 C16orf86 chromosome 16 open reading frame 86 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ41802 2008-02-22 2023-01-20 388284 ENSG00000159761 OTTHUMG00000150527 uc002ety.4 NM_001012984 CCDS32468 Q6ZW13 MGI:1918296 RGD:1561415 HGNC:33755 "ENST00000403458.9|NM_001012984.3" HGNC:33754 C16orf87 chromosome 16 open reading frame 87 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 2008-06-13 2023-01-20 388272 ENSG00000155330 OTTHUMG00000132538 uc002eek.2 NM_001001436 "CCDS10724|CCDS86522" Q6PH81 MGI:1913964 RGD:1308706 HGNC:33754 "ENST00000285697.9|NM_001001436.4" -HGNC:28687 C16orf89 chromosome 16 open reading frame 89 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC45438 2008-07-25 2023-01-20 146556 ENSG00000153446 OTTHUMG00000159314 uc010bud.4 NM_152459 "CCDS42116|CCDS45404" Q6UX73 "12975309|20578903" MGI:2146559 RGD:1565166 HGNC:28687 "ENST00000472572.8|NM_001098514.3" +HGNC:28687 C16orf89 chromosome 16 open reading frame 89 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC45438 2008-07-25 2023-01-20 146556 ENSG00000153446 OTTHUMG00000159314 uc010bud.4 NM_152459 "CCDS45404|CCDS42116" Q6UX73 "12975309|20578903" MGI:2146559 RGD:1565166 HGNC:28687 "ENST00000472572.8|NM_001098514.3" HGNC:34455 C16orf90 chromosome 16 open reading frame 90 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 LOC646174 2008-07-25 2023-01-20 646174 ENSG00000215131 OTTHUMG00000154627 uc002cvi.4 NM_001080524 CCDS45397 A8MZG2 MGI:1920511 RGD:1561796 HGNC:34455 "ENST00000437192.8|NM_001080524.2" HGNC:34455 -HGNC:26346 C16orf92 chromosome 16 open reading frame 92 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ25404|FIMP" Fertilization Influencing Membrane Protein 2009-04-06 2023-01-20 146378 ENSG00000167194 OTTHUMG00000177107 uc002dvs.2 AK058133 NM_001109659 "CCDS42146|CCDS92135" Q96LL3 32295885 MGI:1925368 RGD:1563217 618911 HGNC:26346 "ENST00000681219.1|NM_001109659.2" -HGNC:40033 C16orf95 chromosome 16 open reading frame 95 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 2011-05-23 2023-01-20 100506581 ENSG00000260456 OTTHUMG00000175680 uc002fju.4 NM_001195124 "CCDS73921|CCDS58491|CCDS54049" Q9H693 30658068 MGI:1923655 RGD:1584205 HGNC:40033 "ENST00000567970.2|NM_001195124.3" +HGNC:26346 C16orf92 chromosome 16 open reading frame 92 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ25404|FIMP" Fertilization Influencing Membrane Protein 2009-04-06 2023-01-20 146378 ENSG00000167194 OTTHUMG00000177107 uc002dvs.2 AK058133 NM_001109659 "CCDS92135|CCDS42146" Q96LL3 32295885 MGI:1925368 RGD:1563217 618911 HGNC:26346 "ENST00000681219.1|NM_001109659.2" +HGNC:40033 C16orf95 chromosome 16 open reading frame 95 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 2011-05-23 2023-01-20 100506581 ENSG00000260456 OTTHUMG00000175680 uc002fju.4 NM_001195124 "CCDS73921|CCDS54049|CCDS58491" Q9H693 30658068 MGI:1923655 RGD:1584205 HGNC:40033 "ENST00000567970.2|NM_001195124.3" HGNC:55269 C16orf95-DT C16orf95 divergent transcript non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 Divergent transcripts 1990 2020-10-01 2020-10-01 101928659 ENSG00000270006 NR_135180 HGNC:40031 C16orf96 chromosome 16 open reading frame 96 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 2011-08-04 2023-01-20 342346 ENSG00000205832 OTTHUMG00000176519 uc010uxn.3 NM_001145011 CCDS53986 A6NNT2 MGI:1926059 RGD:2320756 HGNC:40031 "ENST00000444310.5|NM_001145011.2" HGNC:28737 C17orf49 chromosome 17 open reading frame 49 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC49942|BAP18|HEPIS" "BPTF associated protein of 18 kDa|human embryo lung cellular protein interacting with SARS-CoV nsp-10" Myb/SANT domain containing 532 2005-12-13 2023-01-20 124944 ENSG00000258315 OTTHUMG00000170147 uc060ahc.1 AK055800 NM_174893 "CCDS32542|CCDS45596|CCDS45595" Q8IXM2 "25456412|27226492" MGI:1915609 RGD:1308134 617215 HGNC:28737 "ENST00000439424.6|NM_174893.4" HGNC:29581 C17orf50 chromosome 17 open reading frame 50 protein-coding gene gene with protein product Approved 17q12 17q12 2005-12-13 2023-01-20 146853 ENSG00000270806 OTTHUMG00000188389 uc002hjx.4 BC021727 NM_145272 CCDS42298 Q8WW18 MGI:1913580 RGD:1597447 HGNC:29581 "ENST00000605587.2|NM_145272.4" -HGNC:27568 C17orf58 chromosome 17 open reading frame 58 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 2005-12-15 2023-02-01 284018 ENSG00000186665 OTTHUMG00000179782 uc002jgi.6 AK026583 NM_001382359 "CCDS42375|CCDS45765|CCDS92385" Q2M2W7 12477932 MGI:1916316 RGD:1565033 HGNC:27568 "ENST00000580729.3|NM_001382359.1" +HGNC:27568 C17orf58 chromosome 17 open reading frame 58 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 2005-12-15 2023-02-01 284018 ENSG00000186665 OTTHUMG00000179782 uc002jgi.6 AK026583 NM_001382359 "CCDS42375|CCDS92385|CCDS45765" Q2M2W7 12477932 MGI:1916316 RGD:1565033 HGNC:27568 "ENST00000580729.3|NM_001382359.1" HGNC:27900 C17orf67 chromosome 17 open reading frame 67 protein-coding gene gene with protein product Approved 17q22 17q22 2005-12-16 2023-01-20 339210 ENSG00000214226 OTTHUMG00000132083 uc002iuq.5 BC041467 NM_001085430 CCDS42364 Q0P5P2 12477932 MGI:2685371 RGD:1592433 HGNC:27900 "ENST00000397861.7|NM_001085430.4" HGNC:30173 C17orf75 chromosome 17 open reading frame 75 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "NJMU-R1|SRI2" sensitization to ricin complex subunit 2 2006-01-12 2023-01-20 64149 ENSG00000108666 OTTHUMG00000179585 uc002hhg.4 AB062437 NM_022344 CCDS58537 Q9HAS0 "23394947|29426865" MGI:1917841 RGD:1310429 HGNC:30173 "ENST00000577809.6|NM_022344.4" -HGNC:26831 C17orf78 chromosome 17 open reading frame 78 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ39647 2006-01-24 2023-01-20 284099 ENSG00000278505 OTTHUMG00000188467 uc284otp.1 BC034672 NM_173625 "CCDS45655|CCDS82110" Q8N4C9 14702039 MGI:3650287 RGD:7517962 HGNC:26831 "ENST00000615133.2|NM_173625.5" -HGNC:29601 C17orf80 chromosome 17 open reading frame 80 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HLC-8|MIG3|FLJ20721|SPEP1" "sperm-expressed protein 1|migration-inducing protein 3" 2006-02-13 2012-02-24 2012-02-24 2023-01-20 55028 ENSG00000141219 OTTHUMG00000178417 uc002jjm.6 AY163812 NM_017941 "CCDS42377|CCDS11694|CCDS45767|CCDS74145" Q9BSJ5 MGI:106356 RGD:1359207 HGNC:29601 "ENST00000535032.7|NM_001351264.2" +HGNC:26831 C17orf78 chromosome 17 open reading frame 78 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ39647 2006-01-24 2023-01-20 284099 ENSG00000278505 OTTHUMG00000188467 uc284otp.1 BC034672 NM_173625 "CCDS82110|CCDS45655" Q8N4C9 14702039 MGI:3650287 RGD:7517962 HGNC:26831 "ENST00000615133.2|NM_173625.5" +HGNC:29601 C17orf80 chromosome 17 open reading frame 80 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HLC-8|MIG3|FLJ20721|SPEP1" "sperm-expressed protein 1|migration-inducing protein 3" 2006-02-13 2012-02-24 2012-02-24 2023-01-20 55028 ENSG00000141219 OTTHUMG00000178417 uc002jjm.6 AY163812 NM_017941 "CCDS42377|CCDS45767|CCDS11694|CCDS74145" Q9BSJ5 MGI:106356 RGD:1359207 HGNC:29601 "ENST00000535032.7|NM_001351264.2" HGNC:34490 C17orf99 chromosome 17 open reading frame 99 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "GLPG464|UNQ464" 2008-08-07 2023-01-20 100141515 ENSG00000187997 OTTHUMG00000153871 uc002jus.5 AY358510 NM_001163075 CCDS54171 Q6UX52 28978694 MGI:1924977 RGD:1591144 HGNC:34490 "ENST00000340363.10|NM_001163075.2" HGNC:34494 C17orf100 chromosome 17 open reading frame 100 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 LOC388327 2008-08-12 2023-01-20 388327 ENSG00000256806 OTTHUMG00000188340 uc284ohu.1 "BC028174|BC038956|BC052606" NM_001105520 CCDS73952 A8MU93 MGI:1922554 RGD:6486589 HGNC:34494 "ENST00000542475.3|NM_001105520.2" HGNC:37238 C17orf107 chromosome 17 open reading frame 107 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 2009-09-30 2023-05-22 100130311 ENSG00000205710 OTTHUMG00000164838 uc002fzl.4 AK128415 NM_001145536 CCDS45591 Q6ZR85 MGI:2148639 RGD:1597577 HGNC:37238 "ENST00000381365.4|NM_001145536.2" HGNC:53437 C17orf113 chromosome 17 open reading frame 113 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 2017-04-07 2023-01-20 110806298 ENSG00000267221 OTTHUMG00000180103 NM_001358661 A0A1B0GUU1 HGNC:53437 "ENST00000587304.3|NM_001358661.2" HGNC:55343 C17orf114 chromosome 17 open reading frame 114 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 2020-11-04 2023-01-20 119139905 ENSG00000262165 NM_001395223 CCDS92230 A0A1B0GUV1 MGI:5623078 RGD:2319497 HGNC:26447 C18orf15 chromosome 18 putative open reading frame 15 other unknown Approved 18p11.21 18p11.21 "FLJ31338|HsT3231" "chromosome 18 open reading frame 15 (putative)|chromosome 18 open reading frame 15" 2004-04-29 2020-08-07 2021-03-05 147276 ENSG00000279020 OTTHUMG00000181926 uc060nqi.1 AK055900 NR_146617 Q96N68 14702039 HGNC:26447 -HGNC:28802 C18orf21 chromosome 18 open reading frame 21 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "PNAS-131|PNAS-124|HsT3108" 2004-05-05 2023-01-20 83608 ENSG00000141428 OTTHUMG00000128531 uc002kzc.4 BC025950 NM_031446 "CCDS11916|CCDS74212|CCDS56064" Q32NC0 12477932 MGI:1915296 RGD:1564673 HGNC:28802 "ENST00000592875.6|NM_031446.5" +HGNC:28802 C18orf21 chromosome 18 open reading frame 21 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "PNAS-131|PNAS-124|HsT3108" 2004-05-05 2023-01-20 83608 ENSG00000141428 OTTHUMG00000128531 uc002kzc.4 BC025950 NM_031446 "CCDS56064|CCDS11916|CCDS74212" Q32NC0 12477932 MGI:1915296 RGD:1564673 HGNC:28802 "ENST00000592875.6|NM_031446.5" HGNC:31690 C18orf32 chromosome 18 open reading frame 32 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 FLJ23458 2007-08-02 2023-01-20 497661 ENSG00000177576 OTTHUMG00000179688 uc002ldl.4 AK027111 NM_001035005 CCDS32831 Q8TCD1 "35107634|29255114" MGI:3039614 RGD:1562987 619979 HGNC:31690 "ENST00000318240.8|NM_001035005.4" -HGNC:13796 C18orf54 chromosome 18 open reading frame 54 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "MGC33382|LAS2" lung adenoma susceptibility protein 2 2005-01-04 2023-03-13 162681 ENSG00000166845 OTTHUMG00000132703 uc031rij.3 AK126503 NM_173529 "CCDS74223|CCDS11956|CCDS92464" Q8IYD9 30452682 MGI:1922045 RGD:1563837 613258 HGNC:13796 "ENST00000620105.5|NM_001288980.2" +HGNC:13796 C18orf54 chromosome 18 open reading frame 54 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "MGC33382|LAS2" lung adenoma susceptibility protein 2 2005-01-04 2023-03-13 162681 ENSG00000166845 OTTHUMG00000132703 uc031rij.3 AK126503 NM_173529 "CCDS92464|CCDS11956|CCDS74223" Q8IYD9 30452682 MGI:1922045 RGD:1563837 613258 HGNC:13796 "ENST00000620105.5|NM_001288980.2" HGNC:40037 C18orf63 chromosome 18 open reading frame 63 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 DKFZP781G0119 2011-05-19 2023-01-20 644041 ENSG00000206043 OTTHUMG00000178987 uc002llj.4 NM_001174123 CCDS54189 Q68DL7 MGI:4936900 RGD:2323488 HGNC:40037 "ENST00000579455.2|NM_001174123.2" HGNC:25443 C19orf12 chromosome 19 open reading frame 12 protein-coding gene gene with protein product Approved 19q12 19q12 "MGC10922|DKFZP762D096|NBIA4|MPAN" "neurodegeneration with brain iron accumulation 4|membrane protein-associated neurodegeneration" SPG43 spastic paraplegia 43 (autosomal recessive) 2004-02-11 2023-01-20 83636 ENSG00000131943 OTTHUMG00000149838 uc031rkd.1 AK057185 NM_031448 "CCDS74325|CCDS59373|CCDS12418" Q9NSK7 "21981780|23857908|26136767" MGI:1919494 RGD:1585208 614297 289569 HGNC:25443 "ENST00000323670.14|NM_031448.6" HGNC:25443 HGNC:28642 C19orf18 chromosome 19 open reading frame 18 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC41906 2004-02-19 2023-01-20 147685 ENSG00000177025 OTTHUMG00000183450 uc002qqv.3 BC033933 NM_152474 CCDS12967 Q8NEA5 12477932 MGI:1920340 RGD:1595996 HGNC:28642 "ENST00000314391.3|NM_152474.5" @@ -3132,7 +3132,7 @@ HGNC:26711 C19orf25 chromosome 19 open reading frame 25 protein-coding gene gene HGNC:16668 C19orf33 chromosome 19 open reading frame 33 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "IMUP-1|IMUP-2|H2RSP|IMUP" "immortalization-upregulated protein|HAI-2 related small protein|hepatocyte growth factor activator inhibitor type 2-related small protein" 2004-04-28 2023-01-20 64073 ENSG00000167644 OTTHUMG00000181894 uc002ohu.2 AF213678 NM_033520 "CCDS82344|CCDS12511" Q9GZP8 11080599 MGI:1919525 RGD:2319167 619711 HGNC:16668 "ENST00000301246.10|NM_033520.3" HGNC:34073 C19orf38 chromosome 19 open reading frame 38 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 HIDE1 Highly expressed in immature dendritic cell transcript 1 2008-04-14 2008-04-14 2023-01-20 255809 ENSG00000214212 OTTHUMG00000180697 uc060tmt.1 NM_001136482 CCDS45970 A8MVS5 MGI:3043001 RGD:1587445 HGNC:34073 "ENST00000397820.5|NM_001136482.3" HGNC:26141 C19orf44 chromosome 19 open reading frame 44 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 FLJ21742 2006-06-19 2023-01-20 84167 ENSG00000105072 OTTHUMG00000182439 uc002neh.3 AK025395 NM_032207 "CCDS12345|CCDS74306" Q9H6X5 12477932 MGI:1919504 RGD:1311847 HGNC:26141 "ENST00000221671.8|NM_032207.4" -HGNC:26723 C19orf47 chromosome 19 open reading frame 47 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ36888 2006-07-12 2023-03-15 126526 ENSG00000160392 OTTHUMG00000179028 uc002oni.6 AL834131 NM_178830 "CCDS58662|CCDS92619" Q8N9M1 12477932 MGI:1913617 RGD:1307554 HGNC:26723 "ENST00000683109.1|NM_001256441.2" +HGNC:26723 C19orf47 chromosome 19 open reading frame 47 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ36888 2006-07-12 2023-03-15 126526 ENSG00000160392 OTTHUMG00000179028 uc002oni.6 AL834131 NM_178830 "CCDS92619|CCDS58662" Q8N9M1 12477932 MGI:1913617 RGD:1307554 HGNC:26723 "ENST00000683109.1|NM_001256441.2" HGNC:29667 C19orf48P chromosome 19 open reading frame 48, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 "MGC13170|BC006151" multidrug resistance-related protein C19orf48 "chromosome 19 open reading frame 48|chromosome 19 putative open reading frame 48" "Minor histocompatibility antigens|Small nucleolar RNA protein coding host genes" "870|1835" 2006-07-12 2023-01-05 2023-01-05 2023-03-15 84798 ENSG00000167747 OTTHUMG00000182875 uc002ptg.4 BC037227 NM_032712 "12452007|18698046" MGI:1914226 RGD:1309326 618864 HGNC:29667 HGNC:24991 C19orf53 chromosome 19 open reading frame 53 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "HSPC023|LYDG10" leydig cell tumor 10 kDa protein homolog 2006-08-08 2023-01-20 28974 ENSG00000104979 OTTHUMG00000180914 uc002mxg.4 AF078852 NM_014047 CCDS12298 Q9UNZ5 11042152 MGI:1289231 RGD:735128 HGNC:24991 "ENST00000588234.6|NM_014047.3" HGNC:34354 C19orf67 chromosome 19 open reading frame 67 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 2008-07-02 2023-01-20 646457 ENSG00000188032 OTTHUMG00000169303 uc031rjr.2 NM_001277378 CCDS59360 A6NJJ6 MGI:1920703 RGD:1586683 HGNC:34354 "ENST00000548523.6|NM_001277378.2" @@ -3151,10 +3151,10 @@ HGNC:27655 C20orf204 chromosome 20 open reading frame 204 protein-coding gene ge HGNC:1300 C21orf58 chromosome 21 open reading frame 58 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 2000-05-23 2023-01-20 54058 ENSG00000160298 OTTHUMG00000090634 uc002zjf.5 NM_058180 "CCDS13735|CCDS68229" P58505 MGI:1924214 RGD:1564149 HGNC:1300 "ENST00000291691.12|NM_058180.5" HGNC:1305 C21orf62 chromosome 21 open reading frame 62 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B37|PRED81" C21orf120 chromosome 21 open reading frame 120 2000-08-22 2023-01-20 56245 ENSG00000205929 OTTHUMG00000163477 uc011adt.3 AF231922 NM_019596 CCDS42919 Q9NYP8 MGI:1921637 RGD:1562726 HGNC:1305 "ENST00000479548.2|NM_001162495.3" HGNC:1290 C21orf62-AS1 C21orf62 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 C21orf49 chromosome 21 open reading frame 49 Antisense RNAs 1987 2000-05-23 2014-10-01 2014-10-01 2014-10-01 54067 ENSG00000205930 OTTHUMG00000064992 NR_024622 Q17RA5 C21orf62-AS1 HGNC:1290 -HGNC:16459 C21orf91 chromosome 21 open reading frame 91 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "YG81|EURL|CSSG1|BTG3-7:1" "cold sore susceptibility gene 1|early undifferentiated retina and lens" "C21orf38|C21orf14" chromosome 21 open reading frame 38 2001-08-24 2003-07-22 2023-01-25 54149 ENSG00000154642 OTTHUMG00000074509 uc002yko.4 AF239726 NM_017447 "CCDS42909|CCDS42907|CCDS42908" Q9NYK6 "22039568|27404227|33796011|34145395" MGI:1196400 RGD:1563888 HGNC:16459 "ENST00000284881.9|NM_001100420.2" +HGNC:16459 C21orf91 chromosome 21 open reading frame 91 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "YG81|EURL|CSSG1|BTG3-7:1" "cold sore susceptibility gene 1|early undifferentiated retina and lens" "C21orf38|C21orf14" chromosome 21 open reading frame 38 2001-08-24 2003-07-22 2023-01-25 54149 ENSG00000154642 OTTHUMG00000074509 uc002yko.4 AF239726 NM_017447 "CCDS42907|CCDS42909|CCDS42908" Q9NYK6 "22039568|27404227|33796011|34145395" MGI:1196400 RGD:1563888 HGNC:16459 "ENST00000284881.9|NM_001100420.2" HGNC:16729 C21orf91-OT1 C21orf91 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 D21S2089E NCRNA00285 "non-protein coding RNA 285|C21orf91 overlapping transcript 1 (non-protein coding)" Overlapping transcripts 1988 2010-08-16 2011-08-19 2014-06-02 2014-11-19 246312 ENSG00000240770 OTTHUMG00000074506 uc061zej.1 "AY063452|AY063453" NR_038870 12036297 C21orf91-OT1 HGNC:16729 HGNC:39602 C21orf140 chromosome 21 open reading frame 140 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 FAM243A family with sequence similarity 243 member A 2013-11-05 2021-06-18 2021-06-18 2023-01-20 101928147 ENSG00000222018 OTTHUMG00000154291 NM_001282537 CCDS63357 B9A014 MGI:1922578 RGD:1560327 HGNC:39602 "ENST00000410005.2|NM_001282537.2" -HGNC:15558 C22orf15 chromosome 22 open reading frame 15 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "FLJ36561|N27C7-3" 2004-06-24 2023-01-20 150248 ENSG00000169314 OTTHUMG00000150740 uc011aja.3 AB050773 NM_182520 "CCDS93130|CCDS82698|CCDS13814" Q8WYQ4 MGI:2685713 RGD:1564162 HGNC:15558 "ENST00000402217.8|NM_182520.3" +HGNC:15558 C22orf15 chromosome 22 open reading frame 15 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "FLJ36561|N27C7-3" 2004-06-24 2023-01-20 150248 ENSG00000169314 OTTHUMG00000150740 uc011aja.3 AB050773 NM_182520 "CCDS13814|CCDS93130|CCDS82698" Q8WYQ4 MGI:2685713 RGD:1564162 HGNC:15558 "ENST00000402217.8|NM_182520.3" HGNC:18589 C22orf23 chromosome 22 open reading frame 23 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "FLJ32787|EVG1|LOC84645" 2002-04-30 2023-01-20 84645 ENSG00000128346 OTTHUMG00000150672 uc003auj.3 AF324466 NM_032561 "CCDS74860|CCDS13962" Q9BZE7 11237012 MGI:1920774 RGD:1359634 619678 HGNC:18589 "ENST00000403305.6|NM_032561.5" HGNC:26931 C22orf31 chromosome 22 open reading frame 31 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "HS747E2A|bK747E2.1" 2006-07-05 2023-01-20 25770 ENSG00000100249 OTTHUMG00000151011 uc003aej.2 AL035364 NM_015370 CCDS13848 O95567 15461802 HGNC:26931 "ENST00000216071.5|NM_015370.2" HGNC:27012 C22orf39 chromosome 22 open reading frame 39 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 MGC74441 2007-12-06 2023-01-20 128977 ENSG00000242259 OTTHUMG00000150137 uc062blt.1 NM_173793 "CCDS33599|CCDS54498" Q6P5X5 MGI:1919557 RGD:1595717 HGNC:27012 "ENST00000399562.9|NM_173793.5" @@ -3165,17 +3165,17 @@ HGNC:1373 CA2 carbonic anhydrase 2 protein-coding gene gene with protein product HGNC:1374 CA3 carbonic anhydrase 3 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 "Car3|CAIII" "carbonic anhydrase III, muscle specific|carbonic anhydrase III" Carbonic anhydrases 460 2001-06-22 2016-03-18 2023-01-20 761 ENSG00000164879 OTTHUMG00000164942 uc003ydj.4 AJ006473 NM_005181 CCDS6238 P07451 6221502 MGI:88270 RGD:2241 114750 4.2.1.1 HGNC:1374 "ENST00000285381.3|NM_005181.4" HGNC:51657 CA3-AS1 CA3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q21.2 08q21.2 Antisense RNAs 1987 2015-04-24 2015-04-24 100996348 ENSG00000253549 OTTHUMG00000164943 NR_121630 CA3-AS1 HGNC:51657 HGNC:1375 CA4 carbonic anhydrase 4 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "CAIV|Car4" RP17 "retinitis pigmentosa 17 (autosomal dominant)|carbonic anhydrase IV" Carbonic anhydrases 460 1992-04-07 2016-03-18 2023-01-20 762 ENSG00000167434 OTTHUMG00000179987 uc002iym.5 L10955 NM_000717 CCDS11624 P22748 8325641 MGI:1096574 RGD:2242 114760 119122 objectId:2599 4.2.1.1 HGNC:1375 "ENST00000300900.9|NM_000717.5" HGNC:1375 -HGNC:1377 CA5A carbonic anhydrase 5A protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "CAV|CAVA" CA5 carbonic anhydrase VA, mitochondrial Carbonic anhydrases 460 1993-10-15 2016-03-18 2023-01-20 763 ENSG00000174990 OTTHUMG00000137677 uc002fkn.2 L19297 NM_001739 "CCDS10965|CCDS92202" P35218 "8356065|7490083" MGI:101946 RGD:2243 LRG_1280|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1280.xml 114761 404144 objectId:3093 4.2.1.1 HGNC:1377 "ENST00000649794.3|NM_001739.2" HGNC:1377 +HGNC:1377 CA5A carbonic anhydrase 5A protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "CAV|CAVA" CA5 carbonic anhydrase VA, mitochondrial Carbonic anhydrases 460 1993-10-15 2016-03-18 2023-01-20 763 ENSG00000174990 OTTHUMG00000137677 uc002fkn.2 L19297 NM_001739 "CCDS92202|CCDS10965" P35218 "8356065|7490083" MGI:101946 RGD:2243 LRG_1280|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1280.xml 114761 404144 objectId:3093 4.2.1.1 HGNC:1377 "ENST00000649794.3|NM_001739.2" HGNC:1377 HGNC:1379 CA5AP1 carbonic anhydrase 5A pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 CA5P "carbonic anhydrase V pseudogene|carbonic anhydrase VA pseudogene 1" 1995-09-20 2012-08-21 2016-03-18 2016-03-18 764 ENSG00000260133 OTTHUMG00000176772 NG_027849 7490083 PGOHUM00000248796 HGNC:1379 HGNC:1378 CA5B carbonic anhydrase 5B protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 carbonic anhydrase VB, mitochondrial Carbonic anhydrases 460 1999-09-16 2016-03-18 2023-01-20 11238 ENSG00000169239 OTTHUMG00000021183 uc004cxe.4 AB021660 NM_007220 CCDS14171 Q9Y2D0 10409679 MGI:1926249 RGD:1549783 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CA5B 300230 HGNC:1378 "ENST00000318636.8|NM_007220.4" HGNC:29544 CA5BP1 carbonic anhydrase 5B pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 PRO2325 "similar to carbonic anhydrase VB, mitochondrial precursor|carbonic dehydratase" "CA5BL|CA5BP" "carbonic anhydrase VB-like|carbonic anhydrase VB pseudogene|carbonic anhydrase VB pseudogene 1" 2004-08-09 2011-02-07 2016-03-18 2016-03-18 340591 ENSG00000186312 OTTHUMG00000021182 BC021816 NR_026551 Q8WTZ4 12477932 PGOHUM00000250066 HGNC:29544 -HGNC:1380 CA6 carbonic anhydrase 6 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 carbonic anhydrase VI Carbonic anhydrases 460 1990-09-10 2016-03-18 2023-01-20 765 ENSG00000131686 OTTHUMG00000001763 uc001apm.5 M57892 NM_001215 "CCDS30578|CCDS57970|CCDS57971" P23280 9691177 MGI:1333786 RGD:70516 114780 4.2.1.1 HGNC:1380 "ENST00000377443.7|NM_001215.4" -HGNC:1381 CA7 carbonic anhydrase 7 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 carbonic anhydrase VII Carbonic anhydrases 460 1988-05-11 2016-03-18 2023-01-20 766 ENSG00000168748 OTTHUMG00000137524 uc002eqi.4 NM_001014435 "CCDS10821|CCDS42173" P43166 1783392 MGI:103100 RGD:1306842 114770 objectId:2749 4.2.1.1 HGNC:1381 "ENST00000338437.7|NM_005182.3" +HGNC:1380 CA6 carbonic anhydrase 6 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 carbonic anhydrase VI Carbonic anhydrases 460 1990-09-10 2016-03-18 2023-01-20 765 ENSG00000131686 OTTHUMG00000001763 uc001apm.5 M57892 NM_001215 "CCDS30578|CCDS57971|CCDS57970" P23280 9691177 MGI:1333786 RGD:70516 114780 4.2.1.1 HGNC:1380 "ENST00000377443.7|NM_001215.4" +HGNC:1381 CA7 carbonic anhydrase 7 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 carbonic anhydrase VII Carbonic anhydrases 460 1988-05-11 2016-03-18 2023-01-20 766 ENSG00000168748 OTTHUMG00000137524 uc002eqi.4 NM_001014435 "CCDS42173|CCDS10821" P43166 1783392 MGI:103100 RGD:1306842 114770 objectId:2749 4.2.1.1 HGNC:1381 "ENST00000338437.7|NM_005182.3" HGNC:1382 CA8 carbonic anhydrase 8 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 CARP CALS carbonic anhydrase VIII Carbonic anhydrases 460 1993-07-08 2016-03-18 2023-01-20 767 ENSG00000178538 OTTHUMG00000165325 uc003xtz.2 L04656 NM_001321837 CCDS6174 P35219 17219437 MGI:88253 RGD:1304709 114815 327290 HGNC:1382 "ENST00000317995.5|NM_004056.6" HGNC:1382 HGNC:1383 CA9 carbonic anhydrase 9 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "MN|CAIX" "carbonic dehydratase|RCC-associated protein G250" carbonic anhydrase IX Carbonic anhydrases 460 1998-04-29 2016-03-18 2023-01-20 768 ENSG00000107159 OTTHUMG00000021029 uc003zxo.5 X66839 NM_001216 CCDS6585 Q16790 "8661007|9787087" MGI:2447188 RGD:1306426 603179 objectId:3055 HGNC:1383 "ENST00000378357.9|NM_001216.3" HGNC:1369 CA10 carbonic anhydrase 10 protein-coding gene gene with protein product Approved 17q21.33-q22 17q21.33-q22 "CARPX|CA-RPX|HUCEP-15" carbonic anhydrase X Carbonic anhydrases 460 1998-07-17 2016-03-18 2023-01-20 56934 ENSG00000154975 OTTHUMG00000177544 uc002ity.4 AF288385 NM_020178 CCDS32684 Q9NS85 "8673298|9921901" MGI:1919855 RGD:2322930 604642 HGNC:1369 "ENST00000451037.7|NM_020178.5" HGNC:1370 CA11 carbonic anhydrase 11 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "CARP2|CARPX1" "CA-RP XI|carbonic anhydrase-related protein XI|carbonic anhydrase-related protein 2" carbonic anhydrase XI Carbonic anhydrases 460 1998-07-17 2016-03-18 2023-01-20 770 ENSG00000063180 OTTHUMG00000183320 uc002pjz.2 AF067662 NM_001217 CCDS12729 O75493 9878252 MGI:1336193 RGD:735155 604644 HGNC:1370 "ENST00000084798.9|NM_001217.5" -HGNC:1371 CA12 carbonic anhydrase 12 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 HsT18816 carbonic anhydrase XII Carbonic anhydrases 460 1998-07-17 2016-03-18 2023-01-20 771 ENSG00000074410 OTTHUMG00000132881 uc002amc.4 AF051882 NM_001218 "CCDS10186|CCDS76767|CCDS10185" O43570 9636197 MGI:1923709 RGD:1306612 603263 objectId:2747 HGNC:1371 "ENST00000178638.8|NM_001218.5" HGNC:1371 +HGNC:1371 CA12 carbonic anhydrase 12 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 HsT18816 carbonic anhydrase XII Carbonic anhydrases 460 1998-07-17 2016-03-18 2023-01-20 771 ENSG00000074410 OTTHUMG00000132881 uc002amc.4 AF051882 NM_001218 "CCDS76767|CCDS10185|CCDS10186" O43570 9636197 MGI:1923709 RGD:1306612 603263 objectId:2747 HGNC:1371 "ENST00000178638.8|NM_001218.5" HGNC:1371 HGNC:14914 CA13 carbonic anhydrase 13 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 "CAXIII|FLJ37995|MGC59868" carbonic anhydrase XIII Carbonic anhydrases 460 2004-04-28 2016-03-18 2023-01-20 377677 ENSG00000185015 OTTHUMG00000164940 uc003ydg.3 BC052602 NM_198584 CCDS6236 Q8N1Q1 14600151 MGI:1931322 RGD:1560453 611436 objectId:2748 HGNC:14914 "ENST00000321764.4|NM_198584.3" HGNC:1372 CA14 carbonic anhydrase 14 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 carbonic anhydrase XIV Carbonic anhydrases 460 1999-11-16 2016-03-18 2023-01-20 23632 ENSG00000118298 OTTHUMG00000012549 uc001etx.5 AB025904 NM_012113 CCDS947 Q9ULX7 10512682 MGI:1344341 RGD:1599277 604832 objectId:2598 HGNC:1372 "ENST00000369111.9|NM_012113.3" HGNC:44364 CA15P1 CA15 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 carbonic anhydrase XV, pseudogene 1 Carbonic anhydrases 460 2012-08-21 2019-01-18 2019-01-18 100996435 ENSG00000241527 OTTHUMG00000157581 NG_052641 16083424 HGNC:44364 @@ -3187,9 +3187,9 @@ HGNC:20290 CAB39L calcium binding protein 39 like protein-coding gene gene with HGNC:51641 CAB39P1 calcium binding protein 39 pseudogene 1 pseudogene pseudogene Approved 5q12.1 05q12.1 2015-04-08 2015-04-08 106481732 ENSG00000251303 OTTHUMG00000162415 NG_043473 PGOHUM00000300967 HGNC:51641 HGNC:28678 CABCOCO1 ciliary associated calcium binding coiled-coil 1 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "bA63A2.1|Em:AC022398.2|MGC44593|ARIEL" "calcium-binding coiled-coil protein-1|ARID5B-inducing enhancer associated long noncoding RNA" C10orf107 chromosome 10 open reading frame 107 2004-04-16 2017-08-09 2017-08-09 2023-01-20 219621 ENSG00000183346 OTTHUMG00000018295 uc010qik.3 BC041932 NM_173554 "CCDS7262|CCDS91247" Q8IVU9 26990073 MGI:1920537 RGD:1306739 HGNC:28678 "ENST00000648843.3|NM_001366906.2" HGNC:24187 CABIN1 calcineurin binding protein 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "KIAA0330|PPP3IN" HIRA histone chaperone complex subunits 1997 2008-09-16 2023-01-20 23523 ENSG00000099991 OTTHUMG00000150797 uc002zzi.1 AF072441 NM_012295 "CCDS74830|CCDS13823" Q9Y6J0 "9655484|9205841" MGI:1298375 RGD:620263 604251 HGNC:24187 "ENST00000263119.10|NM_012295.4" HGNC:24187 -HGNC:25097 CABLES1 Cdk5 and Abl enzyme substrate 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "HsT2563|FLJ35924" 2004-01-09 2023-01-20 91768 ENSG00000134508 OTTHUMG00000179186 uc002kuc.3 BC037218 NM_138375 "CCDS42417|CCDS58615|CCDS42418" Q8TDN4 17982127 MGI:1927065 RGD:1305516 609194 HGNC:25097 "ENST00000256925.12|NM_001100619.3" +HGNC:25097 CABLES1 Cdk5 and Abl enzyme substrate 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "HsT2563|FLJ35924" 2004-01-09 2023-01-20 91768 ENSG00000134508 OTTHUMG00000179186 uc002kuc.3 BC037218 NM_138375 "CCDS58615|CCDS42417|CCDS42418" Q8TDN4 17982127 MGI:1927065 RGD:1305516 609194 HGNC:25097 "ENST00000256925.12|NM_001100619.3" HGNC:16143 CABLES2 Cdk5 and Abl enzyme substrate 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "dJ908M14.2|ik3-2" C20orf150 chromosome 20 open reading frame 150 2001-07-17 2004-01-09 2004-01-09 2023-01-20 81928 ENSG00000149679 OTTHUMG00000032912 uc002ycv.3 BC003122 NM_031215 CCDS33503 Q9BTV7 14637168 MGI:2182335 RGD:1310089 618772 HGNC:16143 "ENST00000279101.10|NM_031215.3" -HGNC:1384 CABP1 calcium binding protein 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "calbrain|caldendrin" EF-hand domain containing 863 2000-08-31 2007-03-12 2023-01-20 9478 ENSG00000157782 OTTHUMG00000156794 uc001tyv.5 AF169148 NM_001033677 "CCDS9204|CCDS9205|CCDS31913" Q9NZU7 "9920909|10625670" MGI:1352750 RGD:620385 605563 HGNC:1384 "ENST00000316803.8|NM_001033677.2" +HGNC:1384 CABP1 calcium binding protein 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "calbrain|caldendrin" EF-hand domain containing 863 2000-08-31 2007-03-12 2023-01-20 9478 ENSG00000157782 OTTHUMG00000156794 uc001tyv.5 AF169148 NM_001033677 "CCDS9205|CCDS31913|CCDS9204" Q9NZU7 "9920909|10625670" MGI:1352750 RGD:620385 605563 HGNC:1384 "ENST00000316803.8|NM_001033677.2" HGNC:55491 CABP1-DT CABP1 divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 AC125616.1 Divergent transcripts 1990 2021-03-12 2022-12-23 101928300 ENSG00000256008 NR_183426 HGNC:1385 CABP2 calcium binding protein 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 DFNB93 deafness, autosomal recessive 93 EF-hand domain containing 863 2000-07-28 2023-03-15 51475 ENSG00000167791 OTTHUMG00000168014 uc058eil.1 AF169154 NM_001318496 CCDS8170 Q9NPB3 "10625670|22981119" MGI:1352749 RGD:1563670 607314 316377 HGNC:1385 "ENST00000294288.5|NM_016366.3" HGNC:1385 HGNC:1386 CABP4 calcium binding protein 4 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 CSNB2B EF-hand domain containing 863 2000-08-31 2023-01-20 57010 ENSG00000175544 OTTHUMG00000168033 uc001olo.4 AC005849 NM_001300895 "CCDS73333|CCDS8166" P57796 "10625670|16960802" MGI:1920910 RGD:1306083 608965 119127 HGNC:1386 "ENST00000325656.7|NM_145200.5" HGNC:1386 @@ -3197,148 +3197,148 @@ HGNC:13714 CABP5 calcium binding protein 5 protein-coding gene gene with protein HGNC:20834 CABP7 calcium binding protein 7 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 MGC57793 EF-hand domain containing 863 2003-09-25 2023-01-20 164633 ENSG00000100314 OTTHUMG00000151282 uc003agl.4 BC051805 NM_182527 CCDS13867 Q86V35 11785943 MGI:2183437 RGD:1359269 618759 HGNC:20834 "ENST00000216144.4|NM_182527.3" HGNC:55758 CABP7-DT CABP7 divergent transcript non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 Divergent transcripts 1990 2021-07-21 2021-07-21 122149303 ENSG00000232396 HGNC:30710 CABS1 calcium binding protein, spermatid associated 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "NYD-SP26|FLJ32897|CLPH" casein-like phosphoprotein C4orf35 "chromosome 4 open reading frame 35|calcium-binding protein, spermatid-specific 1" 2006-08-29 2011-01-25 2016-02-29 2023-01-20 85438 ENSG00000145309 OTTHUMG00000129405 uc003hff.4 AF380838 NM_033122 CCDS3539 Q96KC9 "19208547|19271754|28381457" MGI:1918227 RGD:620592 618600 HGNC:30710 "ENST00000273936.6|NM_033122.4" -HGNC:15569 CABYR calcium binding tyrosine phosphorylation regulated protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "FSP-2|CBP86|CT88" "fibrousheathin 2|cancer/testis antigen 88" calcium binding tyrosine-(Y)-phosphorylation regulated 2001-05-31 2016-02-12 2023-01-20 26256 ENSG00000154040 OTTHUMG00000037365 uc060nzz.1 AF088868 NM_153770 "CCDS11882|CCDS11883|CCDS45840|CCDS42420|CCDS77166|CCDS11881" O75952 "11820818|17317841|16139264" MGI:1918382 RGD:1585413 612135 HGNC:15569 "ENST00000399496.8|NM_153769.3" +HGNC:15569 CABYR calcium binding tyrosine phosphorylation regulated protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "FSP-2|CBP86|CT88" "fibrousheathin 2|cancer/testis antigen 88" calcium binding tyrosine-(Y)-phosphorylation regulated 2001-05-31 2016-02-12 2023-01-20 26256 ENSG00000154040 OTTHUMG00000037365 uc060nzz.1 AF088868 NM_153770 "CCDS11881|CCDS11883|CCDS77166|CCDS11882|CCDS45840|CCDS42420" O75952 "11820818|17317841|16139264" MGI:1918382 RGD:1585413 612135 HGNC:15569 "ENST00000399496.8|NM_153769.3" HGNC:31902 CABYRP1 calcium binding tyrosine phosphorylation regulated pseudogene 1 pseudogene pseudogene Approved 3p21.1 03p21.1 CABYRP "calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene|calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene 1" 2005-01-26 2010-03-02 2016-02-12 2016-02-12 266954 ENSG00000242983 OTTHUMG00000158459 NG_002394 PGOHUM00000237632 HGNC:31902 -HGNC:1365 CACFD1 calcium channel flower domain containing 1 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "D9S2135|flower" C9orf7 chromosome 9 open reading frame 7 1999-08-23 2012-03-06 2012-03-06 2023-01-20 11094 ENSG00000160325 OTTHUMG00000020875 uc011mdg.2 NM_017586 "CCDS6974|CCDS56592|CCDS56591|CCDS48051" Q9UGQ2 19737521 MGI:1924317 RGD:1311501 613104 HGNC:1365 "ENST00000316948.9|NM_017586.5" +HGNC:1365 CACFD1 calcium channel flower domain containing 1 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "D9S2135|flower" C9orf7 chromosome 9 open reading frame 7 1999-08-23 2012-03-06 2012-03-06 2023-01-20 11094 ENSG00000160325 OTTHUMG00000020875 uc011mdg.2 NM_017586 "CCDS48051|CCDS6974|CCDS56591|CCDS56592" Q9UGQ2 19737521 MGI:1924317 RGD:1311501 613104 HGNC:1365 "ENST00000316948.9|NM_017586.5" HGNC:29314 CACHD1 cache domain containing 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 KIAA1573 VWCD1 von Willebrand factor type A and cache domain containing 1 MicroRNA protein coding host genes 1691 2005-07-13 2005-10-11 2005-10-11 2023-01-20 57685 ENSG00000158966 OTTHUMG00000009030 uc001dbo.2 AB046793 NM_020925 CCDS628 Q5VU97 "10997877|30181139" MGI:2444177 RGD:1310770 620144 HGNC:29314 "ENST00000651257.2|NM_020925.4" -HGNC:1388 CACNA1A calcium voltage-gated channel subunit alpha1 A protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "Cav2.1|EA2|APCA|HPCA|FHM" "CACNL1A4|SCA6|MHP1|MHP" calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Calcium voltage-gated channel alpha1 subunits 1512 1996-06-18 2016-02-04 2023-01-20 773 ENSG00000141837 OTTHUMG00000044590 uc002mwy.5 U79666 NM_000068 "CCDS45998|CCDS45999|CCDS82300|CCDS82301|CCDS82302" O00555 "8825650|16382099|23827678" MGI:109482 RGD:2244 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1A|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1A|LRG_7|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_7.xml" 601011 119129 objectId:532 HGNC:1388 "ENST00000360228.11|NM_001127222.2" HGNC:1388 +HGNC:1388 CACNA1A calcium voltage-gated channel subunit alpha1 A protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "Cav2.1|EA2|APCA|HPCA|FHM" "CACNL1A4|SCA6|MHP1|MHP" calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Calcium voltage-gated channel alpha1 subunits 1512 1996-06-18 2016-02-04 2023-01-20 773 ENSG00000141837 OTTHUMG00000044590 uc002mwy.5 U79666 NM_000068 "CCDS82302|CCDS45999|CCDS82300|CCDS45998|CCDS82301" O00555 "8825650|16382099|23827678" MGI:109482 RGD:2244 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1A|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1A|LRG_7|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_7.xml" 601011 119129 objectId:532 HGNC:1388 "ENST00000360228.11|NM_001127222.2" HGNC:1388 HGNC:1389 CACNA1B calcium voltage-gated channel subunit alpha1 B protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "Cav2.2|CACNN" CACNL1A5 calcium channel, voltage-dependent, N type, alpha 1B subunit "EF-hand domain containing|Calcium voltage-gated channel alpha1 subunits" "863|1512" 1995-06-01 2016-02-04 2023-01-20 774 ENSG00000148408 OTTHUMG00000021002 uc064xnz.1 AB209467 NM_000718 "CCDS59522|CCDS59523" Q00975 "8825650|16382099" MGI:88296 RGD:628852 601012 470026 objectId:533 HGNC:1389 "ENST00000371372.6|NM_000718.4" HGNC:1389 HGNC:56165 CACNA1B-AS1 CACNA1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 Antisense RNAs 1987 2022-01-13 2022-01-13 105376331 NR_132977 -HGNC:1390 CACNA1C calcium voltage-gated channel subunit alpha1 C protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "Cav1.2|CACH2|CACN2|TS|LQT8" "CCHL1A1|CACNL1A1|CACNA1C-IT2" "calcium channel, voltage-dependent, L type, alpha 1C subunit|CACNA1C intronic transcript 2|CACNA1C intronic transcript 2 (non-protein coding)" Calcium voltage-gated channel alpha1 subunits 1512 1991-01-30 2016-02-04 2023-03-03 775 ENSG00000151067 OTTHUMG00000150243 uc001qkl.3 AF070589 NM_000719 "CCDS53733|CCDS91636|CCDS44795|CCDS44788|CCDS44793|CCDS44791|CCDS44792|CCDS44796|CCDS44801|CCDS44794|CCDS44800|CCDS53736|CCDS44790|CCDS44798|CCDS53735|CCDS44789|CCDS91637|CCDS53734|CCDS44797|CCDS44787|CCDS91634|CCDS44799" Q13936 "1650913|16382099" MGI:103013 RGD:2245 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|CACNA1C database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=CACNA1C|LRG_334|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_334.xml" 114205 119140 objectId:529 HGNC:1390 "ENST00000399655.6|NM_000719.7" HGNC:1390 +HGNC:1390 CACNA1C calcium voltage-gated channel subunit alpha1 C protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "Cav1.2|CACH2|CACN2|TS|LQT8" "CCHL1A1|CACNL1A1|CACNA1C-IT2" "calcium channel, voltage-dependent, L type, alpha 1C subunit|CACNA1C intronic transcript 2|CACNA1C intronic transcript 2 (non-protein coding)" Calcium voltage-gated channel alpha1 subunits 1512 1991-01-30 2016-02-04 2023-03-03 775 ENSG00000151067 OTTHUMG00000150243 uc001qkl.3 AF070589 NM_000719 "CCDS44792|CCDS44797|CCDS44801|CCDS44799|CCDS44800|CCDS91634|CCDS91636|CCDS44788|CCDS53736|CCDS44790|CCDS44796|CCDS44789|CCDS91637|CCDS53734|CCDS44787|CCDS53735|CCDS44795|CCDS44794|CCDS44791|CCDS44793|CCDS53733|CCDS44798" Q13936 "1650913|16382099" MGI:103013 RGD:2245 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|CACNA1C database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=CACNA1C|LRG_334|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_334.xml" 114205 119140 objectId:529 HGNC:1390 "ENST00000399655.6|NM_000719.7" HGNC:1390 HGNC:40119 CACNA1C-AS1 CACNA1C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 100652846 ENSG00000246627 OTTHUMG00000168139 uc001qkx.3 NR_045725 CACNA1C-AS1 HGNC:40119 HGNC:40118 CACNA1C-AS2 CACNA1C antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 100874235 ENSG00000256271 OTTHUMG00000168138 uc058juv.1 NR_046579 CACNA1C-AS2 HGNC:40118 HGNC:40117 CACNA1C-AS3 CACNA1C antisense RNA 3 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 106478964 ENSG00000256769 OTTHUMG00000168137 uc058juq.1 CACNA1C-AS3 HGNC:40116 CACNA1C-AS4 CACNA1C antisense RNA 4 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 100874234 ENSG00000256025 OTTHUMG00000168136 uc031qfm.2 NR_046578 CACNA1C-AS4 HGNC:40116 HGNC:41312 CACNA1C-IT1 CACNA1C intronic transcript 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 107984540 ENSG00000256837 OTTHUMG00000168337 uc058jud.1 XR_001749433 CACNA1C-IT1 HGNC:41312 HGNC:41314 CACNA1C-IT3 CACNA1C intronic transcript 3 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C intronic transcript 3 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 100874370 ENSG00000256721 OTTHUMG00000168201 uc031qfn.2 NR_046769 CACNA1C-IT3 HGNC:41314 -HGNC:1391 CACNA1D calcium voltage-gated channel subunit alpha1 D protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "Cav1.3|CACH3|CACN4" "CCHL1A2|CACNL1A2" calcium channel, voltage-dependent, L type, alpha 1D subunit Calcium voltage-gated channel alpha1 subunits 1512 1991-12-12 2016-02-04 2023-01-20 776 ENSG00000157388 OTTHUMG00000158278 uc003dgu.6 AB209171 NM_000720 "CCDS2872|CCDS46849|CCDS46848" Q01668 1664412 MGI:88293 RGD:70973 CACNA1D 114206 327310 objectId:530 HGNC:1391 "ENST00000350061.11|NM_001128840.3" HGNC:1391 -HGNC:1392 CACNA1E calcium voltage-gated channel subunit alpha1 E protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "Cav2.3|BII|CACH6" CACNL1A6 "calcium channel, voltage-dependent, R type, alpha 1E subunit|calcium voltage-gated channel subunit alpha1 subunit E" "EF-hand domain containing|Calcium voltage-gated channel alpha1 subunits" "863|1512" 1994-12-20 2016-02-04 2023-01-20 777 ENSG00000198216 OTTHUMG00000037301 uc001gow.5 AK096563 NM_000721 "CCDS55665|CCDS53443|CCDS55664" Q15878 "8388125|16382099" MGI:106217 RGD:2246 601013 objectId:534 HGNC:1392 "ENST00000367573.7|NM_001205293.3" HGNC:1392 -HGNC:1393 CACNA1F calcium voltage-gated channel subunit alpha1 F protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "Cav1.4|JM8|JMC8|CSNBX2|CORDX3|CSNB2A|OA2" "CSNB2|AIED" "Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)|calcium channel, voltage-dependent, L type, alpha 1F subunit" Calcium voltage-gated channel alpha1 subunits 1512 1997-04-21 2016-02-04 2023-01-20 778 ENSG00000102001 OTTHUMG00000022703 uc004dnb.3 AA019975 NM_005183 "CCDS35253|CCDS59167|CCDS59166" O60840 "9344658|9662400|16382099|12111638|17525176" MGI:1859639 RGD:621535 "Mutations of the L-type Calcium-Channel Gene|http://www.retina-international.org/files/sci-news/cacnamut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1F" 300110 119148 objectId:531 HGNC:1393 "ENST00000323022.10|NM_001256789.3" HGNC:1393 -HGNC:1394 CACNA1G calcium voltage-gated channel subunit alpha1 G protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "Cav3.1|NBR13" calcium channel, voltage-dependent, T type, alpha 1G subunit Calcium voltage-gated channel alpha1 subunits 1512 1999-01-08 2016-02-04 2023-03-15 8913 ENSG00000006283 OTTHUMG00000162180 uc002irk.3 AC004590 NM_018896 "CCDS58567|CCDS45736|CCDS58565|CCDS54142|CCDS58575|CCDS45730|CCDS45735|CCDS45732|CCDS58574|CCDS45734|CCDS45733|CCDS58569|CCDS58568|CCDS58566|CCDS54144|CCDS45731|CCDS54145|CCDS58571|CCDS58572|CCDS45737|CCDS54143|CCDS54146|CCDS58570|CCDS58573|CCDS58576" O43497 "9495342|16382099" MGI:1201678 RGD:68942 604065 460876 objectId:535 HGNC:1394 "ENST00000359106.10|NM_018896.5" HGNC:1394 +HGNC:1391 CACNA1D calcium voltage-gated channel subunit alpha1 D protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "Cav1.3|CACH3|CACN4" "CCHL1A2|CACNL1A2" calcium channel, voltage-dependent, L type, alpha 1D subunit Calcium voltage-gated channel alpha1 subunits 1512 1991-12-12 2016-02-04 2023-01-20 776 ENSG00000157388 OTTHUMG00000158278 uc003dgu.6 AB209171 NM_000720 "CCDS46848|CCDS46849|CCDS2872" Q01668 1664412 MGI:88293 RGD:70973 CACNA1D 114206 327310 objectId:530 HGNC:1391 "ENST00000350061.11|NM_001128840.3" HGNC:1391 +HGNC:1392 CACNA1E calcium voltage-gated channel subunit alpha1 E protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "Cav2.3|BII|CACH6" CACNL1A6 "calcium channel, voltage-dependent, R type, alpha 1E subunit|calcium voltage-gated channel subunit alpha1 subunit E" "EF-hand domain containing|Calcium voltage-gated channel alpha1 subunits" "863|1512" 1994-12-20 2016-02-04 2023-01-20 777 ENSG00000198216 OTTHUMG00000037301 uc001gow.5 AK096563 NM_000721 "CCDS53443|CCDS55664|CCDS55665" Q15878 "8388125|16382099" MGI:106217 RGD:2246 601013 objectId:534 HGNC:1392 "ENST00000367573.7|NM_001205293.3" HGNC:1392 +HGNC:1393 CACNA1F calcium voltage-gated channel subunit alpha1 F protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "Cav1.4|JM8|JMC8|CSNBX2|CORDX3|CSNB2A|OA2" "CSNB2|AIED" "Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)|calcium channel, voltage-dependent, L type, alpha 1F subunit" Calcium voltage-gated channel alpha1 subunits 1512 1997-04-21 2016-02-04 2023-01-20 778 ENSG00000102001 OTTHUMG00000022703 uc004dnb.3 AA019975 NM_005183 "CCDS59167|CCDS35253|CCDS59166" O60840 "9344658|9662400|16382099|12111638|17525176" MGI:1859639 RGD:621535 "Mutations of the L-type Calcium-Channel Gene|http://www.retina-international.org/files/sci-news/cacnamut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1F" 300110 119148 objectId:531 HGNC:1393 "ENST00000323022.10|NM_001256789.3" HGNC:1393 +HGNC:1394 CACNA1G calcium voltage-gated channel subunit alpha1 G protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "Cav3.1|NBR13" calcium channel, voltage-dependent, T type, alpha 1G subunit Calcium voltage-gated channel alpha1 subunits 1512 1999-01-08 2016-02-04 2023-03-15 8913 ENSG00000006283 OTTHUMG00000162180 uc002irk.3 AC004590 NM_018896 "CCDS58572|CCDS54142|CCDS45733|CCDS58565|CCDS58576|CCDS54145|CCDS58569|CCDS58566|CCDS58571|CCDS45730|CCDS58573|CCDS58570|CCDS45735|CCDS58574|CCDS58568|CCDS58575|CCDS45734|CCDS58567|CCDS54146|CCDS54143|CCDS45737|CCDS45731|CCDS45732|CCDS54144|CCDS45736" O43497 "9495342|16382099" MGI:1201678 RGD:68942 604065 460876 objectId:535 HGNC:1394 "ENST00000359106.10|NM_018896.5" HGNC:1394 HGNC:27377 CACNA1G-AS1 CACNA1G antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 CAS1 CACNA1G antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2018-07-04 253962 ENSG00000250107 OTTHUMG00000162163 uc002irh.3 NR_038439 "26397149|28404955|29963160" CACNA1G-AS1 HGNC:27377 -HGNC:1395 CACNA1H calcium voltage-gated channel subunit alpha1 H protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Cav3.2 calcium channel, voltage-dependent, T type, alpha 1H subunit Calcium voltage-gated channel alpha1 subunits 1512 1999-01-08 2016-02-04 2023-01-20 8912 ENSG00000196557 OTTHUMG00000172992 uc002cks.4 AL031703 NM_001005407 "CCDS45376|CCDS45375" O95180 "9670923|16382099" MGI:1928842 RGD:68943 607904 286549 objectId:536 HGNC:1395 "ENST00000348261.11|NM_021098.3" HGNC:1395 -HGNC:1396 CACNA1I calcium voltage-gated channel subunit alpha1 I protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Cav3.3 calcium channel, voltage-dependent, T type, alpha 1I subunit Calcium voltage-gated channel alpha1 subunits 1512 1999-01-08 2016-02-04 2023-01-20 8911 ENSG00000100346 OTTHUMG00000151096 uc003ayc.5 AF129133 NM_001003406 "CCDS46711|CCDS46710" Q9P0X4 "10454147|16382099" MGI:2178051 RGD:68944 608230 objectId:537 HGNC:1396 "ENST00000402142.4|NM_021096.4" HGNC:1396 +HGNC:1395 CACNA1H calcium voltage-gated channel subunit alpha1 H protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Cav3.2 calcium channel, voltage-dependent, T type, alpha 1H subunit Calcium voltage-gated channel alpha1 subunits 1512 1999-01-08 2016-02-04 2023-01-20 8912 ENSG00000196557 OTTHUMG00000172992 uc002cks.4 AL031703 NM_001005407 "CCDS45375|CCDS45376" O95180 "9670923|16382099" MGI:1928842 RGD:68943 607904 286549 objectId:536 HGNC:1395 "ENST00000348261.11|NM_021098.3" HGNC:1395 +HGNC:1396 CACNA1I calcium voltage-gated channel subunit alpha1 I protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Cav3.3 calcium channel, voltage-dependent, T type, alpha 1I subunit Calcium voltage-gated channel alpha1 subunits 1512 1999-01-08 2016-02-04 2023-01-20 8911 ENSG00000100346 OTTHUMG00000151096 uc003ayc.5 AF129133 NM_001003406 "CCDS46710|CCDS46711" Q9P0X4 "10454147|16382099" MGI:2178051 RGD:68944 608230 objectId:537 HGNC:1396 "ENST00000402142.4|NM_021096.4" HGNC:1396 HGNC:1397 CACNA1S calcium voltage-gated channel subunit alpha1 S protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Cav1.1|hypoPP" "HOKPP|MHS5|CACNL1A3" calcium channel, voltage-dependent, L type, alpha 1S subunit Calcium voltage-gated channel alpha1 subunits 1512 1992-03-27 2016-02-04 2023-01-20 779 ENSG00000081248 OTTHUMG00000035784 uc001gvv.4 L33798 NM_000069 CCDS1407 Q13698 "7916735|16382099" MGI:88294 RGD:70983 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1S 114208 119157 objectId:528 HGNC:1397 "ENST00000362061.4|NM_000069.3" HGNC:1397 -HGNC:1399 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "lncRNA-N3|alpha2delta-1" "CACNL2A|CACNA2|MHS3|LINC01112" "long intergenic non-protein coding RNA 1112|calcium channel, voltage-dependent, alpha 2/delta subunit 1" Calcium voltage-gated channel auxiliary alpha2delta subunits 1514 1992-03-27 2016-02-04 2023-01-20 781 ENSG00000153956 OTTHUMG00000023622 uc003uhr.2 M76559 NM_000722 "CCDS5598|CCDS94135|CCDS78253" P54289 8188232 MGI:88295 RGD:2247 LRG_437|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_437.xml 114204 300208 HGNC:1399 "ENST00000356860.8|NM_000722.4" HGNC:1399 +HGNC:1399 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "lncRNA-N3|alpha2delta-1" "CACNL2A|CACNA2|MHS3|LINC01112" "long intergenic non-protein coding RNA 1112|calcium channel, voltage-dependent, alpha 2/delta subunit 1" Calcium voltage-gated channel auxiliary alpha2delta subunits 1514 1992-03-27 2016-02-04 2023-01-20 781 ENSG00000153956 OTTHUMG00000023622 uc003uhr.2 M76559 NM_000722 "CCDS78253|CCDS5598|CCDS94135" P54289 8188232 MGI:88295 RGD:2247 LRG_437|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_437.xml 114204 300208 HGNC:1399 "ENST00000356860.8|NM_000722.4" HGNC:1399 HGNC:40120 CACNA2D1-AS1 CACNA2D1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.11 07q21.11 Antisense RNAs 1987 2019-07-24 2019-07-24 101927356 ENSG00000223770 OTTHUMG00000154779 NR_110076 HGNC:40120 -HGNC:1400 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "KIAA0558|alpha2delta-2" gene 26 calcium channel, voltage-dependent, alpha 2/delta subunit 2 Calcium voltage-gated channel auxiliary alpha2delta subunits 1514 1999-06-11 2016-02-04 2023-01-20 9254 ENSG00000007402 OTTHUMG00000156887 uc003daq.4 AF040709 NM_006030 "CCDS77748|CCDS54588|CCDS63647|CCDS93278|CCDS33763" Q9NY47 MGI:1929813 RGD:631360 607082 470028 HGNC:1400 "ENST00000424201.7|NM_006030.4" HGNC:1400 +HGNC:1400 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "KIAA0558|alpha2delta-2" gene 26 calcium channel, voltage-dependent, alpha 2/delta subunit 2 Calcium voltage-gated channel auxiliary alpha2delta subunits 1514 1999-06-11 2016-02-04 2023-01-20 9254 ENSG00000007402 OTTHUMG00000156887 uc003daq.4 AF040709 NM_006030 "CCDS93278|CCDS33763|CCDS63647|CCDS54588|CCDS77748" Q9NY47 MGI:1929813 RGD:631360 607082 470028 HGNC:1400 "ENST00000424201.7|NM_006030.4" HGNC:1400 HGNC:15460 CACNA2D3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 protein-coding gene gene with protein product Approved 3p21.1-p14.3 03p21.1-p14.3 "HSA272268|alpha2delta-3" calcium channel, voltage-dependent, alpha 2/delta subunit 3 Calcium voltage-gated channel auxiliary alpha2delta subunits 1514 2001-07-03 2016-02-04 2023-01-20 55799 ENSG00000157445 OTTHUMG00000158580 uc003dhf.3 AJ272268 NM_018398 CCDS54598 Q8IZS8 11245980 MGI:1338890 RGD:631361 606399 HGNC:15460 "ENST00000474759.6|NM_018398.3" HGNC:40702 CACNA2D3-AS1 CACNA2D3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 CACNA2D3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874237 ENSG00000243715 OTTHUMG00000158579 uc003dhk.1 NR_046666 CACNA2D3-AS1 HGNC:40702 HGNC:20202 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 alpha2delta-4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 Calcium voltage-gated channel auxiliary alpha2delta subunits 1514 2003-01-06 2016-02-04 2023-01-20 93589 ENSG00000151062 OTTHUMG00000168111 uc058jsm.1 AF516695 NM_172364 CCDS44785 Q7Z3S7 12181424 MGI:2442632 RGD:1562038 608171 160128 HGNC:20202 "ENST00000382722.10|NM_172364.5" HGNC:20202 -HGNC:1401 CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 protein-coding gene gene with protein product Approved 17q12 17q12 CACNLB1 calcium channel, voltage-dependent, beta 1 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1992-03-27 2016-02-04 2023-01-20 782 ENSG00000067191 OTTHUMG00000133217 uc002hrm.2 NM_000723 "CCDS45665|CCDS42311|CCDS11334" Q02641 "8381767|8395940" MGI:102522 RGD:68382 114207 HGNC:1401 "ENST00000394303.8|NM_000723.5" -HGNC:1402 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 protein-coding gene gene with protein product Approved 10p12 10p12 "MYSB|CACNLB2" calcium channel, voltage-dependent, beta 2 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1992-03-27 2016-02-04 2023-01-20 783 ENSG00000165995 OTTHUMG00000017764 uc001ipr.3 U95019 NM_000724 "CCDS81442|CCDS91220|CCDS7125|CCDS7128|CCDS7127|CCDS41493|CCDS7126|CCDS41494|CCDS7129" Q08289 "9254841|8494331" MGI:894644 RGD:67385 LRG_381|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_381.xml 600003 119164 HGNC:1402 "ENST00000324631.13|NM_201596.3" HGNC:1402 -HGNC:1403 CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 CACNLB3 calcium channel, voltage-dependent, beta 3 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1994-12-09 2016-02-04 2023-01-20 784 ENSG00000167535 OTTHUMG00000170398 uc001rsl.3 NM_000725 "CCDS55822|CCDS55823|CCDS55821|CCDS8769" P54284 8119293 MGI:103307 RGD:2248 601958 HGNC:1403 "ENST00000301050.7|NM_000725.4" -HGNC:1404 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 EJM4 calcium channel, voltage-dependent, beta 4 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1997-04-21 2016-02-04 2023-01-20 785 ENSG00000182389 OTTHUMG00000155091 uc002txy.5 AF038852 NM_000726.3 "CCDS46428|CCDS54409|CCDS82523|CCDS82522|CCDS82521|CCDS82520|CCDS46426|CCDS46427" O00305 9628818 MGI:103301 RGD:68385 601949 119168 HGNC:1404 "ENST00000539935.7|NM_000726.5" HGNC:1404 +HGNC:1401 CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 protein-coding gene gene with protein product Approved 17q12 17q12 CACNLB1 calcium channel, voltage-dependent, beta 1 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1992-03-27 2016-02-04 2023-01-20 782 ENSG00000067191 OTTHUMG00000133217 uc002hrm.2 NM_000723 "CCDS42311|CCDS45665|CCDS11334" Q02641 "8381767|8395940" MGI:102522 RGD:68382 114207 HGNC:1401 "ENST00000394303.8|NM_000723.5" +HGNC:1402 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 protein-coding gene gene with protein product Approved 10p12 10p12 "MYSB|CACNLB2" calcium channel, voltage-dependent, beta 2 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1992-03-27 2016-02-04 2023-01-20 783 ENSG00000165995 OTTHUMG00000017764 uc001ipr.3 U95019 NM_000724 "CCDS41493|CCDS7129|CCDS81442|CCDS7128|CCDS41494|CCDS7125|CCDS7127|CCDS7126|CCDS91220" Q08289 "9254841|8494331" MGI:894644 RGD:67385 LRG_381|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_381.xml 600003 119164 HGNC:1402 "ENST00000324631.13|NM_201596.3" HGNC:1402 +HGNC:1403 CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 CACNLB3 calcium channel, voltage-dependent, beta 3 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1994-12-09 2016-02-04 2023-01-20 784 ENSG00000167535 OTTHUMG00000170398 uc001rsl.3 NM_000725 "CCDS55822|CCDS55823|CCDS8769|CCDS55821" P54284 8119293 MGI:103307 RGD:2248 601958 HGNC:1403 "ENST00000301050.7|NM_000725.4" +HGNC:1404 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 EJM4 calcium channel, voltage-dependent, beta 4 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1997-04-21 2016-02-04 2023-01-20 785 ENSG00000182389 OTTHUMG00000155091 uc002txy.5 AF038852 NM_000726.3 "CCDS82523|CCDS54409|CCDS82520|CCDS46426|CCDS82522|CCDS82521|CCDS46428|CCDS46427" O00305 9628818 MGI:103301 RGD:68385 601949 119168 HGNC:1404 "ENST00000539935.7|NM_000726.5" HGNC:1404 HGNC:1405 CACNG1 calcium voltage-gated channel auxiliary subunit gamma 1 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 CACNLG calcium channel, voltage-dependent, gamma subunit 1 Calcium channel auxiliary gamma subunits 1511 1992-03-27 2016-02-04 2023-01-20 786 ENSG00000108878 OTTHUMG00000179553 uc002jfu.4 L07738 NM_000727 CCDS11668 Q06432 8395940 MGI:1206582 RGD:2249 114209 HGNC:1405 "ENST00000226021.5|NM_000727.4" HGNC:1406 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "stargazin|MGC138502|MGC138504" calcium channel, voltage-dependent, gamma subunit 2 Calcium channel auxiliary gamma subunits 1511 1999-06-11 2016-02-04 2023-01-20 10369 ENSG00000166862 OTTHUMG00000030612 uc003aps.3 AF096322 NM_001379051 CCDS13931 Q9Y698 MGI:1316660 RGD:71095 LRG_1159|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1159.xml 602911 293085 HGNC:1406 "ENST00000300105.7|NM_006078.5" HGNC:1406 HGNC:55682 CACNG2-DT CACNG2 divergent transcript non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Divergent transcripts 1990 2021-07-01 2021-07-01 105373021 ENSG00000234688 NR_134623 HGNC:1407 CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 calcium channel, voltage-dependent, gamma subunit 3 Calcium channel auxiliary gamma subunits 1511 1999-06-11 2016-02-04 2023-01-20 10368 ENSG00000006116 OTTHUMG00000131651 uc002dmf.4 AF131911 NM_006539 CCDS10620 O60359 "10221464|10493829" MGI:1859165 RGD:628803 606403 HGNC:1407 "ENST00000005284.4|NM_006539.4" HGNC:1408 CACNG4 calcium voltage-gated channel auxiliary subunit gamma 4 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "MGC11138|MGC24983" calcium channel, voltage-dependent, gamma subunit 4 Calcium channel auxiliary gamma subunits 1511 2000-01-20 2016-02-04 2023-01-20 27092 ENSG00000075461 OTTHUMG00000179550 uc002jft.3 AH008289 NM_014405 CCDS11667 Q9UBN1 10613843 MGI:1859167 RGD:628804 606404 HGNC:1408 "ENST00000262138.4|NM_014405.4" -HGNC:1409 CACNG5 calcium voltage-gated channel auxiliary subunit gamma 5 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 calcium channel, voltage-dependent, gamma subunit 5 Calcium channel auxiliary gamma subunits 1511 2000-01-20 2016-02-04 2023-03-15 27091 ENSG00000075429 OTTHUMG00000166468 uc010wqi.3 AF148220 "NM_014404|NM_145811" "CCDS11665|CCDS92382" Q9UF02 10613843 MGI:2157946 RGD:628805 606405 HGNC:1409 "ENST00000533854.6|NM_145811.3" -HGNC:13625 CACNG6 calcium voltage-gated channel auxiliary subunit gamma 6 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 calcium channel, voltage-dependent, gamma subunit 6 Calcium channel auxiliary gamma subunits 1511 2000-10-24 2016-02-04 2023-03-15 59285 ENSG00000130433 OTTHUMG00000064907 uc002qct.4 AF288386 NM_031897 "CCDS12870|CCDS12871" Q9BXT2 11170751 MGI:1859168 RGD:628806 606898 HGNC:13625 "ENST00000252729.7|NM_145814.2" +HGNC:1409 CACNG5 calcium voltage-gated channel auxiliary subunit gamma 5 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 calcium channel, voltage-dependent, gamma subunit 5 Calcium channel auxiliary gamma subunits 1511 2000-01-20 2016-02-04 2023-03-15 27091 ENSG00000075429 OTTHUMG00000166468 uc010wqi.3 AF148220 "NM_014404|NM_145811" "CCDS92382|CCDS11665" Q9UF02 10613843 MGI:2157946 RGD:628805 606405 HGNC:1409 "ENST00000533854.6|NM_145811.3" +HGNC:13625 CACNG6 calcium voltage-gated channel auxiliary subunit gamma 6 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 calcium channel, voltage-dependent, gamma subunit 6 Calcium channel auxiliary gamma subunits 1511 2000-10-24 2016-02-04 2023-03-15 59285 ENSG00000130433 OTTHUMG00000064907 uc002qct.4 AF288386 NM_031897 "CCDS12871|CCDS12870" Q9BXT2 11170751 MGI:1859168 RGD:628806 606898 HGNC:13625 "ENST00000252729.7|NM_145814.2" HGNC:13626 CACNG7 calcium voltage-gated channel auxiliary subunit gamma 7 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 calcium channel, voltage-dependent, gamma subunit 7 Calcium channel auxiliary gamma subunits 1511 2000-10-24 2016-02-04 2023-01-20 59284 ENSG00000105605 OTTHUMG00000064852 uc061clt.1 AF288387 NM_001384801 CCDS12868 P62955 11170751 MGI:1932374 RGD:628807 606899 HGNC:13626 "ENST00000391767.6|NM_031896.5" HGNC:13628 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 calcium channel, voltage-dependent, gamma subunit 8 "Calcium channel auxiliary gamma subunits|MicroRNA protein coding host genes" "1511|1691" 2000-10-24 2016-02-04 2023-01-20 59283 ENSG00000142408 OTTHUMG00000064908 uc061clu.1 AF288388 NM_031895 CCDS33104 Q8WXS5 11170751 MGI:1932376 RGD:628808 606900 HGNC:13628 "ENST00000270458.4|NM_031895.6" HGNC:29938 CACTIN cactin, spliceosome C complex subunit protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "NY-REN-24|fSAPc" "NY REN 24 antigen|functional spliceosome-associated protein c|cactin homolog (Drosophila)" C19orf29 chromosome 19 open reading frame 29 "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2004-04-05 2012-06-08 2012-06-08 2023-01-20 58509 ENSG00000105298 OTTHUMG00000180808 uc002lyh.4 BC019848 NM_001080543 CCDS45920 Q8WUQ7 "8619474|9110174|21429463|20829348" MGI:1917562 RGD:1563634 618536 HGNC:29938 "ENST00000429344.7|NM_001080543.2" HGNC:31391 CACTIN-AS1 CACTIN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 "C19orf29OS|C19orf29-AS1" "chromosome 19 open reading frame 29 opposite strand|C19orf29 antisense RNA 1 (non-protein coding)|C19orf29 antisense RNA 1" Antisense RNAs 1987 2004-04-05 2012-08-16 2012-08-16 2014-11-18 404665 ENSG00000226800 OTTHUMG00000180807 uc021umw.2 AK097999 NR_038865 Q8N1I8 CACTIN-AS1 HGNC:31391 HGNC:23727 CACUL1 CDK2 associated cullin domain 1 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "FLJ40409|MGC33215|CAC1" Cdk-Associated Cullin1 C10orf46 "chromosome 10 open reading frame 46|CDK2-associated, cullin domain 1" 2003-12-07 2012-06-12 2016-02-01 2023-01-20 143384 ENSG00000151893 OTTHUMG00000019138 uc001lds.2 AK097728 NM_153810 CCDS41570 Q86Y37 19829063 MGI:1926082 RGD:1308127 618764 HGNC:23727 "ENST00000369151.8|NM_153810.5" -HGNC:30423 CACYBP calcyclin binding protein protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "SIP|S100A6BP" 2004-11-03 2023-01-20 27101 ENSG00000116161 OTTHUMG00000034941 uc001gkj.2 BC022352 NM_014412 "CCDS1315|CCDS30942" Q9HB71 "11389839|12421809" MGI:1270839 RGD:1303146 606186 HGNC:30423 "ENST00000367679.7|NM_014412.3" +HGNC:30423 CACYBP calcyclin binding protein protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "SIP|S100A6BP" 2004-11-03 2023-01-20 27101 ENSG00000116161 OTTHUMG00000034941 uc001gkj.2 BC022352 NM_014412 "CCDS30942|CCDS1315" Q9HB71 "11389839|12421809" MGI:1270839 RGD:1303146 606186 HGNC:30423 "ENST00000367679.7|NM_014412.3" HGNC:45122 CACYBPP1 calcyclin binding protein pseudogene 1 pseudogene pseudogene Approved 10q23.1 10q23.1 2013-02-15 2013-02-15 100420043 ENSG00000225928 OTTHUMG00000018643 NG_025452 PGOHUM00000238569 HGNC:45122 HGNC:45123 CACYBPP2 calcyclin binding protein pseudogene 2 pseudogene pseudogene Approved 2q32.1 02q32.1 2013-02-15 2013-02-15 644877 ENSG00000177855 OTTHUMG00000153760 NG_021541 PGOHUM00000240449 HGNC:45123 HGNC:45124 CACYBPP3 calcyclin binding protein pseudogene 3 pseudogene pseudogene Approved 6q25.3 06q25.3 2013-02-15 2013-02-15 106480809 ENSG00000219188 OTTHUMG00000015911 NG_044234 PGOHUM00000243431 HGNC:45124 -HGNC:1424 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase protein-coding gene gene with protein product Approved 2p23.3 02p23.3 GATD4 Glutamine amidotransferase class 1 domain containing 1408 2001-06-22 2023-01-20 790 ENSG00000084774 OTTHUMG00000097070 uc002rji.4 D78586 NM_001306079 "CCDS1742|CCDS77396" P27708 "8619816|2565865" MGI:1916969 RGD:1588606 114010 457009 M38.972 "2.1.3.2|3.5.2.-" HGNC:1424 "ENST00000264705.9|NM_004341.5" HGNC:1424 -HGNC:5951 CADM1 cell adhesion molecule 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "NECL2|ST17|BL2|SYNCAM|IGSF4A|Necl-2|SYNCAM1|RA175" nectin-like 2 "TSLC1|IGSF4" "tumor suppressor in lung cancer 1|immunoglobulin superfamily, member 4" "V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "590|592|1855" 1998-11-02 2007-02-07 2007-02-07 2023-01-20 23705 ENSG00000182985 OTTHUMG00000168202 uc001ppi.5 AB017563 NM_014333 "CCDS73399|CCDS73398|CCDS53711|CCDS73397|CCDS8373" Q9BY67 10610705 MGI:1889272 RGD:1310999 605686 HGNC:5951 "ENST00000331581.11|NM_001301043.2" HGNC:5951 +HGNC:1424 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase protein-coding gene gene with protein product Approved 2p23.3 02p23.3 GATD4 Glutamine amidotransferase class 1 domain containing 1408 2001-06-22 2023-01-20 790 ENSG00000084774 OTTHUMG00000097070 uc002rji.4 D78586 NM_001306079 "CCDS77396|CCDS1742" P27708 "8619816|2565865" MGI:1916969 RGD:1588606 114010 457009 M38.972 "2.1.3.2|3.5.2.-" HGNC:1424 "ENST00000264705.9|NM_004341.5" HGNC:1424 +HGNC:5951 CADM1 cell adhesion molecule 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "NECL2|ST17|BL2|SYNCAM|IGSF4A|Necl-2|SYNCAM1|RA175" nectin-like 2 "TSLC1|IGSF4" "tumor suppressor in lung cancer 1|immunoglobulin superfamily, member 4" "V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "590|592|1855" 1998-11-02 2007-02-07 2007-02-07 2023-01-20 23705 ENSG00000182985 OTTHUMG00000168202 uc001ppi.5 AB017563 NM_014333 "CCDS73398|CCDS53711|CCDS73397|CCDS8373|CCDS73399" Q9BY67 10610705 MGI:1889272 RGD:1310999 605686 HGNC:5951 "ENST00000331581.11|NM_001301043.2" HGNC:5951 HGNC:56177 CADM1-AS1 CADM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Antisense RNAs 1987 2022-01-14 2022-01-14 105369507 ENSG00000256315 NR_135102 -HGNC:29849 CADM2 cell adhesion molecule 2 protein-coding gene gene with protein product Approved 3p12.1 03p12.1 "NECL3|Necl-3|SynCAM2" nectin-like 3 IGSF4D immunoglobulin superfamily, member 4D "V-set domain containing|C2-set domain containing|I-set domain containing|MicroRNA protein coding host genes|Nectins and nectin-like molecules" "590|592|593|1691|1855" 2004-02-24 2007-02-07 2007-02-07 2023-01-20 253559 ENSG00000175161 OTTHUMG00000158990 uc003dql.4 AF538973 NM_153184 "CCDS54614|CCDS54613|CCDS33792" Q8N3J6 MGI:2442722 RGD:1305678 609938 HGNC:29849 "ENST00000383699.8|NM_001167675.2" +HGNC:29849 CADM2 cell adhesion molecule 2 protein-coding gene gene with protein product Approved 3p12.1 03p12.1 "NECL3|Necl-3|SynCAM2" nectin-like 3 IGSF4D immunoglobulin superfamily, member 4D "V-set domain containing|C2-set domain containing|I-set domain containing|MicroRNA protein coding host genes|Nectins and nectin-like molecules" "590|592|593|1691|1855" 2004-02-24 2007-02-07 2007-02-07 2023-01-20 253559 ENSG00000175161 OTTHUMG00000158990 uc003dql.4 AF538973 NM_153184 "CCDS54613|CCDS33792|CCDS54614" Q8N3J6 MGI:2442722 RGD:1305678 609938 HGNC:29849 "ENST00000383699.8|NM_001167675.2" HGNC:41248 CADM2-AS1 CADM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p12.1 03p12.1 CADM2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874038 ENSG00000239519 OTTHUMG00000158987 uc062lrq.1 CADM2-AS1 HGNC:41248 HGNC:41247 CADM2-AS2 CADM2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p12.1 03p12.1 CADM2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874037 ENSG00000241648 OTTHUMG00000158991 uc031saq.1 NR_046752 CADM2-AS2 HGNC:41247 -HGNC:17601 CADM3 cell adhesion molecule 3 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "BIgR|FLJ10698|TSLL1|NECL1|SynCAM3|Necl-1" nectin-like 1 IGSF4B immunoglobulin superfamily, member 4B "V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "590|592|1855" 2004-02-24 2007-02-07 2007-02-07 2023-01-20 57863 ENSG00000162706 OTTHUMG00000037177 uc001ftk.3 AY046418 NM_021189 "CCDS1182|CCDS44251" Q8N126 11536053 MGI:2137858 RGD:1307035 609743 HGNC:17601 "ENST00000368125.9|NM_001127173.3" HGNC:17601 +HGNC:17601 CADM3 cell adhesion molecule 3 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "BIgR|FLJ10698|TSLL1|NECL1|SynCAM3|Necl-1" nectin-like 1 IGSF4B immunoglobulin superfamily, member 4B "V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "590|592|1855" 2004-02-24 2007-02-07 2007-02-07 2023-01-20 57863 ENSG00000162706 OTTHUMG00000037177 uc001ftk.3 AY046418 NM_021189 "CCDS44251|CCDS1182" Q8N126 11536053 MGI:2137858 RGD:1307035 609743 HGNC:17601 "ENST00000368125.9|NM_001127173.3" HGNC:17601 HGNC:40812 CADM3-AS1 CADM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.2 01q23.2 CTA-134P22.2 Antisense RNAs 1987 2014-02-01 2014-11-19 100131825 ENSG00000225670 OTTHUMG00000037178 NR_037870 CADM3-AS1 HGNC:40812 HGNC:30825 CADM4 cell adhesion molecule 4 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "TSLL2|Necl-4|SynCAM4" nectin-like 4 IGSF4C immunoglobulin superfamily, member 4C "V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "590|592|1855" 2004-02-24 2007-02-07 2007-02-07 2023-01-20 199731 ENSG00000105767 OTTHUMG00000182735 uc002oxc.2 AF363368 NM_145296 CCDS12627 Q8NFZ8 11536053 MGI:2449088 RGD:1304722 609744 HGNC:30825 "ENST00000222374.3|NM_145296.2" -HGNC:1426 CADPS calcium dependent secretion activator protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "CAPS|KIAA1121|CAPS1|UNC-31|CADPS1" "Ca++-dependent secretion activator|Ca2+ dependent secretion activator" Pleckstrin homology domain containing 682 1999-07-21 2016-06-08 2023-05-09 8618 ENSG00000163618 OTTHUMG00000158651 uc003dll.3 U36448 "NM_003716|NM_183393|NM_183394" "CCDS46858|CCDS2899|CCDS2898" Q9ULU8 1516133 MGI:1350922 RGD:708573 604667 HGNC:1426 "ENST00000383710.9|NM_003716.4" +HGNC:1426 CADPS calcium dependent secretion activator protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "CAPS|KIAA1121|CAPS1|UNC-31|CADPS1" "Ca++-dependent secretion activator|Ca2+ dependent secretion activator" Pleckstrin homology domain containing 682 1999-07-21 2016-06-08 2023-05-09 8618 ENSG00000163618 OTTHUMG00000158651 uc003dll.3 U36448 "NM_003716|NM_183393|NM_183394" "CCDS46858|CCDS2898|CCDS2899" Q9ULU8 1516133 MGI:1350922 RGD:708573 604667 HGNC:1426 "ENST00000383710.9|NM_003716.4" HGNC:16018 CADPS2 calcium dependent secretion activator 2 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 CAPS2 "Ca++-dependent activator protein for secretion 2|Ca2+ dependent secretion activator 2" "Pleckstrin homology domain containing|C2 domain containing" "682|823" 2001-07-12 2016-06-08 2023-01-20 93664 ENSG00000081803 OTTHUMG00000157093 uc064hnl.1 NM_017954 "CCDS55158|CCDS47691" Q86UW7 MGI:2443963 RGD:1559440 609978 HGNC:16018 "ENST00000449022.7|NM_017954.11" HGNC:21622 CAGE1 cancer antigen 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "bA69L16.7|CT95" cancer/testis antigen 95 CTAG3 cancer/testis antigen 3 2003-08-29 2005-01-27 2005-01-26 2023-01-20 285782 ENSG00000164304 OTTHUMG00000014200 uc063lrf.1 BC026194 NM_175745 "CCDS54964|CCDS47367|CCDS54965" Q8TC20 12531476 MGI:1918463 RGD:1306102 608304 HGNC:21622 "ENST00000502583.6|NM_001170692.2" HGNC:42860 CAHM colon adenocarcinoma hypermethylated non-coding RNA RNA, long non-coding Approved 6q26 06q26 LINC00468 long intergenic non-protein coding RNA 468 colon adenocarcinoma hypermethylated (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2011-09-07 2018-05-16 2018-05-16 100526820 ENSG00000270419 OTTHUMG00000175945 uc021zib.2 BG168587 NR_037593 24799664 RGD:10059728 615930 CAHM HGNC:42860 HGNC:1434 CALB1 calbindin 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 CALB calbindin 1, 28kDa EF-hand domain containing 863 2001-06-22 2015-11-09 2023-01-20 793 ENSG00000104327 OTTHUMG00000134314 uc003yel.2 NM_004929 CCDS6251 P05937 MGI:88248 RGD:69340 114050 HGNC:1434 "ENST00000265431.7|NM_004929.4" HGNC:1435 CALB2 calbindin 2 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 CAL2 calretinin calbindin 2, 29kDa (calretinin) EF-hand domain containing 863 1990-09-10 2008-05-19 2023-03-15 794 ENSG00000172137 OTTHUMG00000137589 uc002faa.6 X56667 NM_001740 CCDS10899 P22676 1906795 MGI:101914 RGD:620981 114051 HGNC:1435 "ENST00000302628.9|NM_001740.5" -HGNC:1437 CALCA calcitonin related polypeptide alpha protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "CGRP|CGRP-alpha" calcitonin CALC1 calcitonin 1 Neuropeptides 1902 1986-01-01 2016-02-22 2023-01-20 796 ENSG00000110680 OTTHUMG00000159731 uc001mlt.2 "X00356|M64486" NM_001741 "CCDS7819|CCDS31432" "P01258|P06881" 6546550 MGI:2151253 RGD:2254 LRG_13|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_13.xml 114130 ligandId:681 HGNC:1437 "ENST00000331587.9|NM_001741.3" +HGNC:1437 CALCA calcitonin related polypeptide alpha protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "CGRP|CGRP-alpha" calcitonin CALC1 calcitonin 1 Neuropeptides 1902 1986-01-01 2016-02-22 2023-01-20 796 ENSG00000110680 OTTHUMG00000159731 uc001mlt.2 "X00356|M64486" NM_001741 "CCDS31432|CCDS7819" "P01258|P06881" 6546550 MGI:2151253 RGD:2254 LRG_13|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_13.xml 114130 ligandId:681 HGNC:1437 "ENST00000331587.9|NM_001741.3" HGNC:1438 CALCB calcitonin related polypeptide beta protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "FLJ30166|CGRP-II" CALC2 calcitonin 2 Neuropeptides 1902 1986-01-01 2016-02-22 2023-01-20 797 ENSG00000175868 OTTHUMG00000164629 uc009ygr.2 NM_000728 CCDS7820 P10092 MGI:2151254 RGD:620997 114160 ligandId:682 HGNC:1438 "ENST00000324229.11|NM_000728.4" HGNC:29306 CALCOCO1 calcium binding and coiled-coil domain 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "KIAA1536|calphoglin|Cocoa" "coiled-coil leucine zipper coactivator 1|inorganic pyrophosphatase activator" 2005-05-17 2023-01-20 57658 ENSG00000012822 OTTHUMG00000170095 uc001sef.4 AL136895 NM_020898 "CCDS44908|CCDS8864" Q9P1Z2 "10819331|11230166" MGI:1914738 RGD:619812 HGNC:29306 "ENST00000550804.6|NM_020898.3" -HGNC:29912 CALCOCO2 calcium binding and coiled-coil domain 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "MGC17318|NDP52" 2006-01-27 2023-01-20 10241 ENSG00000136436 OTTHUMG00000160505 uc002iof.4 BC004130 NM_005831 "CCDS11538|CCDS58560|CCDS58559|CCDS58561|CCDS58558" Q13137 "7540613|26506893" MGI:1343177 RGD:1559974 604587 HGNC:29912 "ENST00000258947.8|NM_005831.5" +HGNC:29912 CALCOCO2 calcium binding and coiled-coil domain 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "MGC17318|NDP52" 2006-01-27 2023-01-20 10241 ENSG00000136436 OTTHUMG00000160505 uc002iof.4 BC004130 NM_005831 "CCDS58561|CCDS58559|CCDS58558|CCDS11538|CCDS58560" Q13137 "7540613|26506893" MGI:1343177 RGD:1559974 604587 HGNC:29912 "ENST00000258947.8|NM_005831.5" HGNC:1439 CALCP calcitonin pseudogene pseudogene pseudogene Approved 11p15.2 11p15.2 CALC3 1988-08-10 2013-09-19 798 ENSG00000253179 OTTHUMG00000164573 X07965 NG_001088 2898385 HGNC:1439 -HGNC:1440 CALCR calcitonin receptor protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "CTR|CT-R" "Calcitonin receptors|MicroRNA protein coding host genes" "265|1691" 1993-03-23 2023-01-20 799 ENSG00000004948 OTTHUMG00000023599 uc003umw.3 L00587 NM_001742 "CCDS5631|CCDS55125" P30988 1331173 MGI:101950 RGD:621001 LRG_1037|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1037.xml 114131 objectId:43 HGNC:1440 "ENST00000426151.7|NM_001742.4" HGNC:1440 +HGNC:1440 CALCR calcitonin receptor protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "CTR|CT-R" "Calcitonin receptors|MicroRNA protein coding host genes" "265|1691" 1993-03-23 2023-01-20 799 ENSG00000004948 OTTHUMG00000023599 uc003umw.3 L00587 NM_001742 "CCDS55125|CCDS5631" P30988 1331173 MGI:101950 RGD:621001 LRG_1037|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1037.xml 114131 objectId:43 HGNC:1440 "ENST00000426151.7|NM_001742.4" HGNC:1440 HGNC:16709 CALCRL calcitonin receptor like receptor protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "CGRPR|CRLR" calcitonin receptor-like Calcitonin receptors 265 2001-10-02 2015-11-12 2023-01-20 10203 ENSG00000064989 OTTHUMG00000132636 uc061qml.1 U17473 NM_005795 CCDS2293 Q16602 "7818539|8626685" MGI:1926944 RGD:2255 114190 objectId:47 HGNC:16709 "ENST00000392370.8|NM_005795.6" HGNC:55863 CALCRL-AS1 CALCRL and TFPI antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.1 02q32.1 Antisense RNAs 1987 2021-09-03 2021-09-03 105373786 ENSG00000224063 XR_001739821 -HGNC:1441 CALD1 caldesmon 1 protein-coding gene gene with protein product Approved 7q33 07q33 "CDM|H-CAD|L-CAD|h-CD" 1992-07-20 2023-01-20 800 ENSG00000122786 OTTHUMG00000155407 uc003vrz.4 M64110 NM_033138 "CCDS5834|CCDS5836|CCDS47716|CCDS47717|CCDS5835" Q05682 1885618 MGI:88250 RGD:2256 114213 HGNC:1441 "ENST00000361675.7|NM_033138.4" +HGNC:1441 CALD1 caldesmon 1 protein-coding gene gene with protein product Approved 7q33 07q33 "CDM|H-CAD|L-CAD|h-CD" 1992-07-20 2023-01-20 800 ENSG00000122786 OTTHUMG00000155407 uc003vrz.4 M64110 NM_033138 "CCDS47716|CCDS5835|CCDS5834|CCDS5836|CCDS47717" Q05682 1885618 MGI:88250 RGD:2256 114213 HGNC:1441 "ENST00000361675.7|NM_033138.4" HGNC:23494 CALHM1 calcium homeostasis modulator 1 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 FAM26C family with sequence similarity 26, member C Calcium homeostasis modulators 1478 2004-05-27 2008-07-02 2008-07-02 2023-01-20 255022 ENSG00000185933 OTTHUMG00000018991 uc001kxe.3 BC036208 NM_001001412 CCDS7550 Q8IU99 18585350 MGI:3643383 RGD:1564891 612234 HGNC:23494 "ENST00000329905.6|NM_001001412.4" HGNC:23493 CALHM2 calcium homeostasis modulator family member 2 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 FAM26B "family with sequence similarity 26, member B|calcium homeostasis modulator 2" Calcium homeostasis modulators 1478 2004-05-27 2008-07-02 2017-07-14 2023-01-20 51063 ENSG00000138172 OTTHUMG00000018990 uc001kxb.4 BC000039 NM_015916 CCDS7549 Q9HA72 18585350 MGI:1919941 RGD:1308276 612235 HGNC:23493 "ENST00000260743.10|NM_015916.5" HGNC:23458 CALHM3 calcium homeostasis modulator 3 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 bA225H22.7 FAM26A family with sequence similarity 26, member A Calcium homeostasis modulators 1478 2004-06-02 2008-07-02 2008-07-02 2023-01-20 119395 ENSG00000183128 OTTHUMG00000018989 uc001kxg.4 BC043367 NM_182494 CCDS44476 Q86XJ0 18585350 MGI:3645665 RGD:1560215 618263 HGNC:23458 "ENST00000369783.4|NM_001129742.2" -HGNC:21094 CALHM4 calcium homeostasis modulator family member 4 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 FLJ32239 "C6orf78|FAM26D" "chromosome 6 open reading frame 78|family with sequence similarity 26, member D|family with sequence similarity 26 member D" Calcium homeostasis modulators 1478 2003-05-19 2017-07-14 2017-07-14 2023-01-20 221301 ENSG00000164451 OTTHUMG00000015443 uc063qxx.1 AK056801 NM_153036 "CCDS5109|CCDS59031|CCDS59032|CCDS93991" Q5JW98 MGI:2685489 RGD:1595701 HGNC:21094 "ENST00000368596.4|NM_001366078.2" +HGNC:21094 CALHM4 calcium homeostasis modulator family member 4 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 FLJ32239 "C6orf78|FAM26D" "chromosome 6 open reading frame 78|family with sequence similarity 26, member D|family with sequence similarity 26 member D" Calcium homeostasis modulators 1478 2003-05-19 2017-07-14 2017-07-14 2023-01-20 221301 ENSG00000164451 OTTHUMG00000015443 uc063qxx.1 AK056801 NM_153036 "CCDS93991|CCDS5109|CCDS59031|CCDS59032" Q5JW98 MGI:2685489 RGD:1595701 HGNC:21094 "ENST00000368596.4|NM_001366078.2" HGNC:21568 CALHM5 calcium homeostasis modulator family member 5 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "dJ493F7.3|MGC45451" "C6orf188|FAM26E" "chromosome 6 open reading frame 188|family with sequence similarity 26, member E|family with sequence similarity 26 member E" Calcium homeostasis modulators 1478 2003-06-24 2017-07-14 2017-07-14 2023-01-20 254228 ENSG00000178033 OTTHUMG00000015442 uc003pwy.4 BC032556 NM_153711 CCDS5108 Q8N5C1 MGI:2143897 RGD:1310405 HGNC:21568 "ENST00000368599.4|NM_153711.5" -HGNC:33391 CALHM6 calcium homeostasis modulator family member 6 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "RP1-93H18.5|OTTHUMP00000017061|OTTHUMP00000017062|dJ93H18.5|INAM" IFN regulatory factor 3-dependent NK-activating molecule "C6orf187|FAM26F" "chromosome 6 open reading frame 187|family with sequence similarity 26, member F|family with sequence similarity 26 member F" Calcium homeostasis modulators 1478 2007-03-19 2017-07-14 2017-07-14 2023-01-20 441168 ENSG00000188820 OTTHUMG00000015438 uc003pwv.5 AF086130 NM_001010919 "CCDS34519|CCDS64506" Q5R3K3 "27645024|27784631" MGI:2443082 RGD:1304835 617305 HGNC:33391 "ENST00000368605.3|NM_001010919.3" +HGNC:33391 CALHM6 calcium homeostasis modulator family member 6 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "RP1-93H18.5|OTTHUMP00000017061|OTTHUMP00000017062|dJ93H18.5|INAM" IFN regulatory factor 3-dependent NK-activating molecule "C6orf187|FAM26F" "chromosome 6 open reading frame 187|family with sequence similarity 26, member F|family with sequence similarity 26 member F" Calcium homeostasis modulators 1478 2007-03-19 2017-07-14 2017-07-14 2023-01-20 441168 ENSG00000188820 OTTHUMG00000015438 uc003pwv.5 AF086130 NM_001010919 "CCDS64506|CCDS34519" Q5R3K3 "27645024|27784631" MGI:2443082 RGD:1304835 617305 HGNC:33391 "ENST00000368605.3|NM_001010919.3" HGNC:40971 CALHM6-AS1 CALHM6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22.1 06q22.1 RP1-93H18.6 Antisense RNAs 1987 2020-01-10 2020-01-21 116435295 ENSG00000244158 OTTHUMG00000159342 NR_174951 31877407 HGNC:1442 CALM1 calmodulin 1 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "CAMI|PHKD|DD132|PHKD1" "prepro-calmodulin 1|phosphorylase kinase subunit delta|phosphorylase kinase subunit delta 1" CALML2 calmodulin 1 (phosphorylase kinase, delta) "Receptor ligands|EF-hand domain containing|Phosphorylase kinase subunits" "542|863|2140" 1991-06-05 2016-06-27 2023-03-15 801 ENSG00000198668 OTTHUMG00000171044 uc001xyl.3 NM_001363669 "CCDS9892|CCDS91917" P0DP23 6385987 MGI:88251 RGD:2257 114180 317387 ligandId:2351 2.7.11.19 HGNC:1442 "ENST00000356978.9|NM_006888.6" HGNC:1442 HGNC:1443 CALM1P1 calmodulin 1 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 CALML1 "calmodulin-like 1|calmodulin 1 (phosphorylase kinase, delta) pseudogene 1" 1995-11-02 2011-03-18 2016-06-27 2016-06-27 802 ENSG00000223467 OTTHUMG00000021979 U12435 NG_001089 7925473 HGNC:1443 HGNC:1444 CALM1P2 calmodulin 1 pseudogene 2 pseudogene pseudogene Approved 7p11.2 07p11.2 TCAG_1643085 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 1995-11-02 2016-06-27 2016-06-27 804 ENSG00000230564 OTTHUMG00000156129 U12475 NG_001090 7925473 PGOHUM00000232696 HGNC:1444 -HGNC:1445 CALM2 calmodulin 2 protein-coding gene gene with protein product Approved 2p21 02p21 "PHKD|PHKD2|CAMII" "prepro-calmodulin 2|phosphorylase kinase subunit delta|phosphorylase kinase subunit delta 2" calmodulin 2 (phosphorylase kinase, delta) "Receptor ligands|EF-hand domain containing|Phosphorylase kinase subunits" "542|863|2140" 1991-06-04 2016-06-27 2023-01-20 805 ENSG00000143933 OTTHUMG00000128850 uc002rvt.2 NM_001743 "CCDS92749|CCDS1832" P0DP24 8314583 MGI:103250 RGD:2258 114182 422270 ligandId:2351 HGNC:1445 "ENST00000272298.12|NM_001743.6" HGNC:1445 +HGNC:1445 CALM2 calmodulin 2 protein-coding gene gene with protein product Approved 2p21 02p21 "PHKD|PHKD2|CAMII" "prepro-calmodulin 2|phosphorylase kinase subunit delta|phosphorylase kinase subunit delta 2" calmodulin 2 (phosphorylase kinase, delta) "Receptor ligands|EF-hand domain containing|Phosphorylase kinase subunits" "542|863|2140" 1991-06-04 2016-06-27 2023-01-20 805 ENSG00000143933 OTTHUMG00000128850 uc002rvt.2 NM_001743 "CCDS1832|CCDS92749" P0DP24 8314583 MGI:103250 RGD:2258 114182 422270 ligandId:2351 HGNC:1445 "ENST00000272298.12|NM_001743.6" HGNC:1445 HGNC:1446 CALM2P1 calmodulin 2 pseudogene 1 pseudogene pseudogene Approved 17q24.3 17q24.3 1991-10-09 2020-04-20 100128390 ENSG00000267170 OTTHUMG00000180352 X13907 NG_002716 2717417 PGOHUM00000294542 HGNC:1446 HGNC:1447 CALM2P2 calmodulin 2 pseudogene 2 pseudogene pseudogene Approved 10q22.1 10q22.1 1991-09-13 2011-03-18 806 ENSG00000229097 OTTHUMG00000018401 X52955 NG_001091 1999288 PGOHUM00000238832 HGNC:1447 HGNC:1448 CALM2P3 calmodulin 2 pseudogene 3 pseudogene pseudogene Approved 13q14.11 13q14.11 1991-09-13 2010-11-24 807 ENSG00000215482 OTTHUMG00000016785 X52956 NG_004858 1999288 PGOHUM00000248379 HGNC:1448 HGNC:39661 CALM2P4 calmodulin 2 pseudogene 4 pseudogene pseudogene Approved 13q32.2 13q32.2 2011-03-18 2011-03-18 643193 ENSG00000233662 OTTHUMG00000017253 NG_011335 PGOHUM00000248475 HGNC:39661 -HGNC:1449 CALM3 calmodulin 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "PHKD|PHKD3" "prepro-calmodulin 3|phosphorylase kinase subunit delta|phosphorylase kinase subunit delta 3" calmodulin 3 (phosphorylase kinase, delta) "Receptor ligands|EF-hand domain containing|Phosphorylase kinase subunits" "542|863|2140" 1991-06-05 2016-06-27 2023-01-20 808 ENSG00000160014 OTTHUMG00000133517 uc002pew.4 NM_001329921 "CCDS33061|CCDS86783|CCDS86782" P0DP25 8314583 MGI:103249 RGD:2259 LRG_1082|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1082.xml 114183 437180 ligandId:2351 HGNC:1449 "ENST00000291295.14|NM_005184.4" HGNC:1449 +HGNC:1449 CALM3 calmodulin 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "PHKD|PHKD3" "prepro-calmodulin 3|phosphorylase kinase subunit delta|phosphorylase kinase subunit delta 3" calmodulin 3 (phosphorylase kinase, delta) "Receptor ligands|EF-hand domain containing|Phosphorylase kinase subunits" "542|863|2140" 1991-06-05 2016-06-27 2023-01-20 808 ENSG00000160014 OTTHUMG00000133517 uc002pew.4 NM_001329921 "CCDS33061|CCDS86782|CCDS86783" P0DP25 8314583 MGI:103249 RGD:2259 LRG_1082|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1082.xml 114183 437180 ligandId:2351 HGNC:1449 "ENST00000291295.14|NM_005184.4" HGNC:1449 HGNC:1452 CALML3 calmodulin like 3 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 CLP calmodulin-like 3 EF-hand domain containing 863 1993-07-27 2015-11-23 2023-01-20 810 ENSG00000178363 OTTHUMG00000017597 uc001iie.2 X13461 NM_005185 CCDS7069 P27482 8476923 MGI:1917655 RGD:1305499 114184 HGNC:1452 "ENST00000315238.3|NM_005185.4" HGNC:44682 CALML3-AS1 CALML3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Antisense RNAs 1987 2012-12-04 2019-07-17 100132159 ENSG00000205488 OTTHUMG00000168090 uc001iid.2 "DA220455|DA770774" NR_120496 31298313 CALML3-AS1 HGNC:44682 -HGNC:18445 CALML4 calmodulin like 4 protein-coding gene gene with protein product Approved 15q23 15q23 "MGC4809|NY-BR-20" calmodulin-like 4 EF-hand domain containing 863 2004-06-25 2015-11-23 2023-01-20 91860 ENSG00000129007 OTTHUMG00000133287 uc002ard.5 AF308287 NM_033429 "CCDS10226|CCDS66808|CCDS42052|CCDS92031" Q96GE6 MGI:1922850 RGD:1583918 HGNC:18445 "ENST00000467889.3|NM_033429.3" +HGNC:18445 CALML4 calmodulin like 4 protein-coding gene gene with protein product Approved 15q23 15q23 "MGC4809|NY-BR-20" calmodulin-like 4 EF-hand domain containing 863 2004-06-25 2015-11-23 2023-01-20 91860 ENSG00000129007 OTTHUMG00000133287 uc002ard.5 AF308287 NM_033429 "CCDS66808|CCDS92031|CCDS10226|CCDS42052" Q96GE6 MGI:1922850 RGD:1583918 HGNC:18445 "ENST00000467889.3|NM_033429.3" HGNC:18180 CALML5 calmodulin like 5 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 CLSP calmodulin-like skin protein calmodulin-like 5 EF-hand domain containing 863 2003-11-10 2015-11-23 2023-01-20 51806 ENSG00000178372 OTTHUMG00000017598 uc001iic.3 AF172852 NM_017422 CCDS7068 Q9NZT1 10777582 MGI:1931464 RGD:1310047 605183 HGNC:18180 "ENST00000380332.5|NM_017422.5" -HGNC:24193 CALML6 calmodulin like 6 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 CAGLP calmodulin-like 6 EF-hand domain containing 863 2005-01-24 2015-11-23 2023-01-20 163688 ENSG00000169885 OTTHUMG00000000943 uc001aih.1 AF490905 NM_138705 "CCDS30566|CCDS81255" Q8TD86 610171 470030 HGNC:24193 "ENST00000307786.8|NM_138705.4" +HGNC:24193 CALML6 calmodulin like 6 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 CAGLP calmodulin-like 6 EF-hand domain containing 863 2005-01-24 2015-11-23 2023-01-20 163688 ENSG00000169885 OTTHUMG00000000943 uc001aih.1 AF490905 NM_138705 "CCDS81255|CCDS30566" Q8TD86 610171 470030 HGNC:24193 "ENST00000307786.8|NM_138705.4" HGNC:13248 CALN1 calneuron 1 protein-coding gene gene with protein product Approved 7q11.22 07q11.22 CABP8 calcium-binding protein CABP8 EF-hand domain containing 863 2001-04-26 2023-01-20 83698 ENSG00000183166 OTTHUMG00000023787 uc003twc.5 AF282250 NM_031468 "CCDS47603|CCDS5541" Q9BXU9 11286509 MGI:2155987 RGD:1305843 607176 HGNC:13248 "ENST00000395275.7|NM_031468.4" HGNC:1455 CALR calreticulin protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "RO|SSA|cC1qR|CRT|FLJ26680|CALR1" "Sicca syndrome antigen A (autoantigen Ro; calreticulin)|autoantigen Ro|calregulin" MicroRNA protein coding host genes 1691 1990-09-10 2023-05-24 811 ENSG00000179218 OTTHUMG00000180574 uc002mvu.3 M84739 NM_004343 CCDS12288 P27797 2365822 MGI:88252 RGD:620288 LRG_828|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_828.xml CALR 109091 391684 HGNC:1455 "ENST00000316448.10|NM_004343.4" HGNC:20407 CALR3 calreticulin 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "CRT2|FLJ25355|MGC26577|CT93" "cancer/testis antigen 93|calsperin" 2003-02-04 2023-01-20 125972 ENSG00000269058 OTTHUMG00000152571 uc002ned.3 AK058084 NM_145046 CCDS12344 Q96L12 12384296 MGI:1920566 RGD:1309243 LRG_422|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_422.xml 611414 264440 HGNC:20407 "ENST00000269881.8|NM_145046.5" HGNC:20407 HGNC:35456 CALR4P calreticulin 4, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2010-03-12 2020-08-14 441884 ENSG00000227742 OTTHUMG00000008233 NR_161259 20210993 MGI:2140435 HGNC:35456 -HGNC:1458 CALU calumenin protein-coding gene gene with protein product Approved 7q32.1 07q32.1 CREC family 2042 1997-07-25 2023-03-15 813 ENSG00000128595 OTTHUMG00000158274 uc003vnq.4 AF013759 NM_001219 "CCDS5805|CCDS56507|CCDS56506|CCDS56508|CCDS47703" O43852 9598325 MGI:1097158 RGD:620383 603420 470032 HGNC:1458 "ENST00000249364.9|NM_001219.5" +HGNC:1458 CALU calumenin protein-coding gene gene with protein product Approved 7q32.1 07q32.1 CREC family 2042 1997-07-25 2023-03-15 813 ENSG00000128595 OTTHUMG00000158274 uc003vnq.4 AF013759 NM_001219 "CCDS47703|CCDS56507|CCDS56506|CCDS56508|CCDS5805" O43852 9598325 MGI:1097158 RGD:620383 603420 470032 HGNC:1458 "ENST00000249364.9|NM_001219.5" HGNC:17938 CALY calcyon neuron specific vesicular protein protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "CALCYON|NSG3" DRD1IP "dopamine receptor D1 interacting protein|calcyon neuron-specific vesicular protein" 2004-04-20 2008-01-16 2016-02-01 2023-01-20 50632 ENSG00000130643 OTTHUMG00000019310 uc001lmo.3 AF225903 NM_015722 CCDS7678 Q9NYX4 "10698743|17623072|25376768" MGI:1915816 RGD:621719 604647 HGNC:17938 "ENST00000252939.9|NM_015722.4" HGNC:1459 CAMK1 calcium/calmodulin dependent protein kinase I protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "CaMKI|CaMKI-alpha" Calmodulin dependent protein kinases 1630 1998-10-16 2016-04-06 2023-01-20 8536 ENSG00000134072 OTTHUMG00000128419 uc003bst.4 L41816 NM_003656 CCDS2582 Q14012 7641687 MGI:1098535 RGD:629473 604998 objectId:1952 2.7.11.17 HGNC:1459 "ENST00000256460.8|NM_003656.5" HGNC:19341 CAMK1D calcium/calmodulin dependent protein kinase ID protein-coding gene gene with protein product Approved 10p13 10p13 CKLiK calcium/calmodulin-dependent protein kinase ID "Calmodulin dependent protein kinases|MicroRNA protein coding host genes" "1630|1691" 2003-11-05 2015-12-04 2023-01-20 57118 ENSG00000183049 OTTHUMG00000017683 uc001ilp.5 AF286366 NM_020397 "CCDS7091|CCDS7092" Q8IU85 11050006 MGI:2442190 RGD:1560691 607957 objectId:1953 2.7.11.17 HGNC:19341 "ENST00000619168.5|NM_153498.4" HGNC:14585 CAMK1G calcium/calmodulin dependent protein kinase IG protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "VWS1|CLICKIII|dJ272L16.1" calcium/calmodulin-dependent protein kinase IG Calmodulin dependent protein kinases 1630 2001-03-21 2016-02-03 2023-01-20 57172 ENSG00000008118 OTTHUMG00000036361 uc001hhe.4 NM_020439 CCDS1486 Q96NX5 12637513 MGI:2388073 RGD:621800 614994 objectId:1954 2.7.11.17 HGNC:14585 "ENST00000361322.3|NM_020439.3" -HGNC:1460 CAMK2A calcium/calmodulin dependent protein kinase II alpha protein-coding gene gene with protein product Approved 5q32 05q32 "KIAA0968|CaMKIINalpha|CaMKIIα" "CaM-kinase II alpha chain|calcium/calmodulin-dependent protein kinase II alpha-B subunit|CaM kinase II alpha subunit|CaMK-II alpha subunit|calcium/calmodulin-dependent protein kinase type II alpha chain" CAMKA calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2023-01-20 815 ENSG00000070808 OTTHUMG00000134281 uc003lru.3 AB023185 NM_015981 "CCDS43387|CCDS93803|CCDS43386" Q9UQM7 "10231032|3475713" MGI:88256 RGD:2261 114078 objectId:1555 2.7.11.17 HGNC:1460 "ENST00000671881.1|NM_015981.4" HGNC:1460 -HGNC:1461 CAMK2B calcium/calmodulin dependent protein kinase II beta protein-coding gene gene with protein product Approved 7p13 07p13 "CAM2|CAMK2|CaMKIIβ" "CaM-kinase II beta chain|calcium/calmodulin-dependent protein kinase type II beta chain|CaM kinase II beta subunit|proline rich calmodulin-dependent protein kinase" CAMKB calcium/calmodulin-dependent protein kinase (CaM kinase) II beta Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2023-01-20 816 ENSG00000058404 OTTHUMG00000023491 uc010kyc.3 U50358 NM_172084 "CCDS5489|CCDS43573|CCDS5483|CCDS5487|CCDS5485|CCDS5484|CCDS5488|CCDS5486" Q13554 MGI:88257 RGD:2262 607707 objectId:1556 2.7.11.17 HGNC:1461 "ENST00000395749.7|NM_001220.5" HGNC:1461 -HGNC:1462 CAMK2D calcium/calmodulin dependent protein kinase II delta protein-coding gene gene with protein product Approved 4q26 04q26 CAMKD calcium/calmodulin-dependent protein kinase (CaM kinase) II delta Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2023-01-20 817 ENSG00000145349 OTTHUMG00000132910 uc003ibk.3 U50361 NM_001221 "CCDS82950|CCDS82949|CCDS3703|CCDS93602|CCDS93610|CCDS93608|CCDS93606|CCDS93611|CCDS43263|CCDS93609|CCDS93603|CCDS93605|CCDS47127|CCDS93612|CCDS54797|CCDS82948|CCDS3704|CCDS93607|CCDS93604|CCDS93601" Q13557 MGI:1341265 RGD:2263 607708 objectId:1558 2.7.11.17 HGNC:1462 "ENST00000511664.6|NM_001321571.2" -HGNC:1463 CAMK2G calcium/calmodulin dependent protein kinase II gamma protein-coding gene gene with protein product Approved 10q22.2 10q22.2 CAMKG calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2023-01-20 818 ENSG00000148660 OTTHUMG00000018492 uc001jvr.3 U81554 NM_172169 "CCDS91267|CCDS7338|CCDS73153|CCDS91269|CCDS7337|CCDS7336" Q13555 8287681 MGI:88259 RGD:621802 602123 objectId:1557 2.7.11.17 HGNC:1463 "ENST00000423381.6|NM_001367534.1" HGNC:1463 +HGNC:1460 CAMK2A calcium/calmodulin dependent protein kinase II alpha protein-coding gene gene with protein product Approved 5q32 05q32 "KIAA0968|CaMKIINalpha|CaMKIIα" "CaM-kinase II alpha chain|calcium/calmodulin-dependent protein kinase II alpha-B subunit|CaM kinase II alpha subunit|CaMK-II alpha subunit|calcium/calmodulin-dependent protein kinase type II alpha chain" CAMKA calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2023-01-20 815 ENSG00000070808 OTTHUMG00000134281 uc003lru.3 AB023185 NM_015981 "CCDS93803|CCDS43387|CCDS43386" Q9UQM7 "10231032|3475713" MGI:88256 RGD:2261 114078 objectId:1555 2.7.11.17 HGNC:1460 "ENST00000671881.1|NM_015981.4" HGNC:1460 +HGNC:1461 CAMK2B calcium/calmodulin dependent protein kinase II beta protein-coding gene gene with protein product Approved 7p13 07p13 "CAM2|CAMK2|CaMKIIβ" "CaM-kinase II beta chain|calcium/calmodulin-dependent protein kinase type II beta chain|CaM kinase II beta subunit|proline rich calmodulin-dependent protein kinase" CAMKB calcium/calmodulin-dependent protein kinase (CaM kinase) II beta Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2023-01-20 816 ENSG00000058404 OTTHUMG00000023491 uc010kyc.3 U50358 NM_172084 "CCDS5486|CCDS5485|CCDS5487|CCDS5489|CCDS43573|CCDS5484|CCDS5483|CCDS5488" Q13554 MGI:88257 RGD:2262 607707 objectId:1556 2.7.11.17 HGNC:1461 "ENST00000395749.7|NM_001220.5" HGNC:1461 +HGNC:1462 CAMK2D calcium/calmodulin dependent protein kinase II delta protein-coding gene gene with protein product Approved 4q26 04q26 CAMKD calcium/calmodulin-dependent protein kinase (CaM kinase) II delta Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2023-01-20 817 ENSG00000145349 OTTHUMG00000132910 uc003ibk.3 U50361 NM_001221 "CCDS93601|CCDS3704|CCDS3703|CCDS93603|CCDS93604|CCDS93611|CCDS93606|CCDS93612|CCDS54797|CCDS93608|CCDS93607|CCDS93602|CCDS93609|CCDS93610|CCDS43263|CCDS82948|CCDS82949|CCDS82950|CCDS47127|CCDS93605" Q13557 MGI:1341265 RGD:2263 607708 objectId:1558 2.7.11.17 HGNC:1462 "ENST00000511664.6|NM_001321571.2" +HGNC:1463 CAMK2G calcium/calmodulin dependent protein kinase II gamma protein-coding gene gene with protein product Approved 10q22.2 10q22.2 CAMKG calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2023-01-20 818 ENSG00000148660 OTTHUMG00000018492 uc001jvr.3 U81554 NM_172169 "CCDS73153|CCDS91267|CCDS7336|CCDS7337|CCDS7338|CCDS91269" Q13555 8287681 MGI:88259 RGD:621802 602123 objectId:1557 2.7.11.17 HGNC:1463 "ENST00000423381.6|NM_001367534.1" HGNC:1463 HGNC:56057 CAMK2G-AS1 CAMK2G antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 Antisense RNAs 1987 2021-12-09 2021-12-09 123706515 ENSG00000224195 HGNC:24190 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 CaMKIINalpha 2005-06-10 2016-04-06 2023-01-20 55450 ENSG00000162545 OTTHUMG00000002837 uc001bdh.4 AY204901 NM_018584 CCDS207 Q7Z7J9 25296973 MGI:1913509 RGD:708430 614986 HGNC:24190 "ENST00000375078.4|NM_018584.6" HGNC:24197 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 CaM-KIIN 2005-06-10 2016-04-06 2023-01-20 94032 ENSG00000163888 OTTHUMG00000156821 uc003fnj.2 AY037149 NM_033259 CCDS3257 Q96S95 "11444830|9724800" MGI:1920297 RGD:708411 608721 HGNC:24197 "ENST00000296238.4|NM_033259.3" HGNC:1464 CAMK4 calcium/calmodulin dependent protein kinase IV protein-coding gene gene with protein product Approved 5q22.1 05q22.1 "CaMK-GR|CaMKIV" "brain Ca++-calmodulin-dependent protein kinase type IV|calcium/calmodulin-dependent protein kinase type IV catalytic chain|CAM kinase IV|CAM kinase- GR" Calmodulin dependent protein kinases 1630 1989-05-24 2016-06-08 2023-01-20 814 ENSG00000152495 OTTHUMG00000128792 uc003kpf.4 D30742 NM_001744 CCDS4103 Q16566 2536634 MGI:88258 RGD:2264 114080 objectId:1955 2.7.11.17 HGNC:1464 "ENST00000282356.9|NM_001744.6" HGNC:1464 -HGNC:1469 CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "DKFZp761M0423|CAMKKA|MGC34095" calcium/calmodulin-dependent protein kinase kinase alpha calcium/calmodulin-dependent protein kinase kinase 1, alpha 1999-08-27 2016-06-08 2023-01-20 84254 ENSG00000004660 OTTHUMG00000090725 uc002fwu.4 AL136576 "NM_032294|NM_172206|NM_172207" "CCDS11039|CCDS86560|CCDS11038" Q8N5S9 11230166 MGI:1891766 RGD:62023 611411 objectId:1956 2.7.11.17 HGNC:1469 "ENST00000348335.7|NM_032294.3" -HGNC:1470 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "CAMKK|KIAA0787|CAMKKB|MGC15254" calcium/calmodulin-dependent protein kinase kinase beta calcium/calmodulin-dependent protein kinase kinase 2, beta 1999-08-27 2016-06-08 2023-01-20 10645 ENSG00000110931 OTTHUMG00000169156 uc001tzv.4 AF101264 NM_172226 "CCDS9218|CCDS9216|CCDS9219|CCDS44999|CCDS53837|CCDS9217|CCDS58283" Q96RR4 9662074 MGI:2444812 RGD:620092 615002 objectId:1957 2.7.11.17 HGNC:1470 "ENST00000404169.8|NM_001270485.2" +HGNC:1469 CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "DKFZp761M0423|CAMKKA|MGC34095" calcium/calmodulin-dependent protein kinase kinase alpha calcium/calmodulin-dependent protein kinase kinase 1, alpha 1999-08-27 2016-06-08 2023-01-20 84254 ENSG00000004660 OTTHUMG00000090725 uc002fwu.4 AL136576 "NM_032294|NM_172206|NM_172207" "CCDS11038|CCDS11039|CCDS86560" Q8N5S9 11230166 MGI:1891766 RGD:62023 611411 objectId:1956 2.7.11.17 HGNC:1469 "ENST00000348335.7|NM_032294.3" +HGNC:1470 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "CAMKK|KIAA0787|CAMKKB|MGC15254" calcium/calmodulin-dependent protein kinase kinase beta calcium/calmodulin-dependent protein kinase kinase 2, beta 1999-08-27 2016-06-08 2023-01-20 10645 ENSG00000110931 OTTHUMG00000169156 uc001tzv.4 AF101264 NM_172226 "CCDS53837|CCDS9217|CCDS44999|CCDS9219|CCDS58283|CCDS9218|CCDS9216" Q96RR4 9662074 MGI:2444812 RGD:620092 615002 objectId:1957 2.7.11.17 HGNC:1470 "ENST00000404169.8|NM_001270485.2" HGNC:26276 CAMKMT calmodulin-lysine N-methyltransferase protein-coding gene gene with protein product Approved 2p21 02p21 CLNMT CaM KMT C2orf34 chromosome 2 open reading frame 34 7BS protein lysine methyltransferases 2056 2005-04-26 2011-03-10 2011-03-10 2023-01-20 79823 ENSG00000143919 OTTHUMG00000128761 uc002rum.4 NM_024766 CCDS1820 Q7Z624 20975703 MGI:1920832 RGD:1310453 609559 244716 2.1.1.60 HGNC:26276 "ENST00000378494.8|NM_024766.5" HGNC:28788 CAMKV CaM kinase like vesicle associated protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "MGC8407|VACAMKL" CaM kinase-like vesicle-associated Calmodulin dependent protein kinases 1630 2005-03-04 2016-04-27 2023-01-20 79012 ENSG00000164076 OTTHUMG00000158288 uc003cxt.2 BC017363 NM_024046 "CCDS82776|CCDS33762" Q8NCB2 27796283 MGI:2384296 RGD:621488 614993 objectId:1958 HGNC:28788 "ENST00000477224.6|NM_024046.5" HGNC:1471 CAMLG calcium modulating ligand protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "CAML|GET2" "calcium-modulating cyclophilin ligand|calcium-signal modulating cyclophilin ligand|cyclophilin B-binding protein" Guided entry of tail-anchored proteins complex subunits 1912 1994-02-08 2023-01-20 819 ENSG00000164615 OTTHUMG00000129116 uc003kzt.4 AF068179.1 NM_001745 CCDS4178 P49069 "8824814|24392163" MGI:104728 RGD:69297 601118 HGNC:1471 "ENST00000297156.4|NM_001745.4" HGNC:1472 CAMP cathelicidin antimicrobial peptide protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CAP18|FALL39|FALL-39|LL37" Receptor ligands 542 1996-12-12 2023-01-20 820 ENSG00000164047 OTTHUMG00000133526 uc003csj.3 BC055089 NM_004345 CCDS2762 P49913 7624374 MGI:108443 RGD:1559878 600474 ligandId:5527 HGNC:1472 "ENST00000652295.2|NM_004345.5" -HGNC:19946 CAMSAP1 calmodulin regulated spectrin associated protein 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "FLJ31228|DKFZp434F195" calmodulin regulated spectrin-associated protein 1 CAMSAP family 1812 2003-12-09 2015-11-17 2023-01-20 157922 ENSG00000130559 OTTHUMG00000020918 uc004cgr.5 AJ519841 NM_015447 "CCDS35176|CCDS94531" Q5T5Y3 "18756519|24706919" MGI:3036242 RGD:1565022 613774 HGNC:19946 "ENST00000389532.9|NM_015447.4" +HGNC:19946 CAMSAP1 calmodulin regulated spectrin associated protein 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "FLJ31228|DKFZp434F195" calmodulin regulated spectrin-associated protein 1 CAMSAP family 1812 2003-12-09 2015-11-17 2023-01-20 157922 ENSG00000130559 OTTHUMG00000020918 uc004cgr.5 AJ519841 NM_015447 "CCDS94531|CCDS35176" Q5T5Y3 "18756519|24706919" MGI:3036242 RGD:1565022 613774 HGNC:19946 "ENST00000389532.9|NM_015447.4" HGNC:55648 CAMSAP1-DT CAMSAP1 divergent transcript non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 Divergent transcripts 1990 2021-06-28 2021-06-28 107987141 ENSG00000238058 XR_001746979 HGNC:29188 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 KIAA1078 CAMSAP1L1 "calmodulin regulated spectrin-associated protein 1-like 1|calmodulin regulated spectrin-associated protein family, member 2" CAMSAP family 1812 2005-05-19 2011-08-18 2015-11-17 2023-01-20 23271 ENSG00000118200 OTTHUMG00000035740 uc001gvk.4 AB029001 NM_203459 "CCDS1404|CCDS72999|CCDS72998" Q08AD1 "15897902|19508979" MGI:1922434 RGD:1310950 613775 HGNC:29188 "ENST00000358823.7|NM_203459.4" -HGNC:29307 CAMSAP3 calmodulin regulated spectrin associated protein family member 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "Nezha|PPP1R80" protein phosphatase 1, regulatory subunit 80 KIAA1543 "KIAA1543|calmodulin regulated spectrin-associated protein family, member 3" "Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes|CAMSAP family" "694|1691|1812" 2004-02-12 2011-08-18 2015-11-17 2023-01-20 57662 ENSG00000076826 OTTHUMG00000182096 uc002mgv.5 AB040976 NM_001080429 "CCDS45947|CCDS42489" Q9P1Y5 "11318610|10819331|19041755|19508979" MGI:1916947 RGD:1597412 612685 HGNC:29307 "ENST00000160298.9|NM_020902.2" -HGNC:18806 CAMTA1 calmodulin binding transcription activator 1 protein-coding gene gene with protein product Approved 1p36.31-p36.23 01p36.31-p36.23 KIAA0833 "IPT domain containing|Calmodulin binding transcription activators " "1752|1941" 2002-06-20 2023-01-20 23261 ENSG00000171735 OTTHUMG00000001212 uc001aoi.3 AB020640 NM_015215 "CCDS90851|CCDS90850|CCDS55575|CCDS90853|CCDS30576|CCDS85922|CCDS90852|CCDS55574|CCDS90849|CCDS90854" Q9Y6Y1 11925432 MGI:2140230 RGD:1562703 CAMTA1 611501 317761 HGNC:18806 "ENST00000303635.12|NM_015215.4" HGNC:18806 +HGNC:29307 CAMSAP3 calmodulin regulated spectrin associated protein family member 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "Nezha|PPP1R80" protein phosphatase 1, regulatory subunit 80 KIAA1543 "KIAA1543|calmodulin regulated spectrin-associated protein family, member 3" "Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes|CAMSAP family" "694|1691|1812" 2004-02-12 2011-08-18 2015-11-17 2023-01-20 57662 ENSG00000076826 OTTHUMG00000182096 uc002mgv.5 AB040976 NM_001080429 "CCDS42489|CCDS45947" Q9P1Y5 "11318610|10819331|19041755|19508979" MGI:1916947 RGD:1597412 612685 HGNC:29307 "ENST00000160298.9|NM_020902.2" +HGNC:18806 CAMTA1 calmodulin binding transcription activator 1 protein-coding gene gene with protein product Approved 1p36.31-p36.23 01p36.31-p36.23 KIAA0833 "IPT domain containing|Calmodulin binding transcription activators " "1752|1941" 2002-06-20 2023-01-20 23261 ENSG00000171735 OTTHUMG00000001212 uc001aoi.3 AB020640 NM_015215 "CCDS55574|CCDS90851|CCDS55575|CCDS90849|CCDS85922|CCDS90854|CCDS90852|CCDS90853|CCDS30576|CCDS90850" Q9Y6Y1 11925432 MGI:2140230 RGD:1562703 CAMTA1 611501 317761 HGNC:18806 "ENST00000303635.12|NM_015215.4" HGNC:18806 HGNC:40856 CAMTA1-AS1 CAMTA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 Antisense RNAs 1987 2019-07-24 2019-07-24 101928836 ENSG00000225126 OTTHUMG00000001220 XR_946925 HGNC:40856 HGNC:40855 CAMTA1-AS2 CAMTA1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 Antisense RNAs 1987 2019-07-24 2019-07-24 102725193 ENSG00000237728 OTTHUMG00000001219 NR_146199 HGNC:40855 HGNC:40854 CAMTA1-AS3 CAMTA1 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 1p36.31 01p36.31 AL512330.1 Antisense RNAs 1987 2022-10-06 2022-10-06 127138864 ENSG00000237365 NR_182292 35844445 HGNC:53020 CAMTA1-DT CAMTA1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.31 01p36.31 lncCAMTA1 Divergent transcripts 1990 2017-08-03 2018-07-20 110841581 ENSG00000237436 OTTHUMG00000001213 NR_149049 27669232 HGNC:53020 HGNC:41446 CAMTA1-IT1 CAMTA1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 CAMTA1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 100874340 ENSG00000237402 OTTHUMG00000001217 uc057bxd.1 CAMTA1-IT1 HGNC:41446 -HGNC:18807 CAMTA2 calmodulin binding transcription activator 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 KIAA0909 "MicroRNA protein coding host genes|IPT domain containing|Calmodulin binding transcription activators " "1691|1752|1941" 2002-06-20 2023-01-20 23125 ENSG00000108509 OTTHUMG00000099417 uc002gah.3 AB020716 NM_015099 "CCDS11063|CCDS54071|CCDS54073|CCDS54072" O94983 11925432 MGI:2135957 RGD:1311296 611508 HGNC:18807 "ENST00000348066.8|NM_015099.4" +HGNC:18807 CAMTA2 calmodulin binding transcription activator 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 KIAA0909 "MicroRNA protein coding host genes|IPT domain containing|Calmodulin binding transcription activators " "1691|1752|1941" 2002-06-20 2023-01-20 23125 ENSG00000108509 OTTHUMG00000099417 uc002gah.3 AB020716 NM_015099 "CCDS54071|CCDS54072|CCDS54073|CCDS11063" O94983 11925432 MGI:2135957 RGD:1311296 611508 HGNC:18807 "ENST00000348066.8|NM_015099.4" HGNC:55342 CAMTA2-AS1 CAMTA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Antisense RNAs 1987 2020-11-04 2020-11-04 101927979 ENSG00000262678 XR_001752769 HGNC:30688 CAND1 cullin associated and neddylation dissociated 1 protein-coding gene gene with protein product Approved 12q14.3-q15 12q14.3-q15 "TIP120A|DKFZp434M1414|KIAA0829|TIP120" TBP interacting protein cullin-associated and neddylation-dissociated 1 Armadillo like helical domain containing 1492 2005-05-24 2016-04-27 2023-01-20 55832 ENSG00000111530 OTTHUMG00000169060 uc001stn.3 NM_018448 CCDS8977 Q86VP6 "10048485|8954946" MGI:1261820 RGD:620479 607727 HGNC:30688 "ENST00000545606.6|NM_018448.5" HGNC:30689 CAND2 cullin associated and neddylation dissociated 2 (putative) protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "TIP120B|KIAA0667|Tp120b" TBP interacting protein cullin-associated and neddylation-dissociated 2 (putative) Armadillo like helical domain containing 1492 2005-05-24 2016-04-27 2023-01-20 23066 ENSG00000144712 OTTHUMG00000155397 uc003bxk.3 NM_001162499 "CCDS43053|CCDS54554" O75155 "9734811|10441524" MGI:1914338 RGD:620480 610403 HGNC:30689 "ENST00000456430.6|NM_001162499.2" HGNC:19721 CANT1 calcium activated nucleotidase 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "SHAPY|SCAN-1" "Soluble Ca-Activated Nucleotidase, isozyme 1|apyrase 1 homolog (C. lectularius)" 2004-02-17 2004-10-15 2004-10-12 2023-01-20 124583 ENSG00000171302 OTTHUMG00000177570 uc002jwj.4 AJ312208 NM_138793 CCDS11760 Q8WVQ1 "12167635|19853239" MGI:1923275 RGD:628743 CANT1 613165 218036 HGNC:19721 "ENST00000392446.10|NM_001159773.2" HGNC:19721 -HGNC:1473 CANX calnexin protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "CNX|IP90|P90" major histocompatibility complex class I antigen-binding protein p88 1993-07-12 2023-01-20 821 ENSG00000127022 OTTHUMG00000130910 uc003mkl.4 L18887 NM_001024649 "CCDS93839|CCDS93837|CCDS93840|CCDS93838|CCDS4447" P27824 "1326756|8136357" MGI:88261 RGD:2266 114217 HGNC:1473 "ENST00000247461.9|NM_001746.4" -HGNC:20040 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 CAP "CAP, adenylate cyclase-associated protein 1 (yeast)|adenylate cyclase associated protein 1" 2003-07-17 2017-05-17 2023-01-20 10487 ENSG00000131236 OTTHUMG00000004493 uc001cey.5 L12168 NM_006367 "CCDS41309|CCDS81304" Q01518 "1406678|8761950" MGI:88262 RGD:620309 617801 HGNC:20040 "ENST00000372805.8|NM_006367.4" +HGNC:1473 CANX calnexin protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "CNX|IP90|P90" major histocompatibility complex class I antigen-binding protein p88 1993-07-12 2023-01-20 821 ENSG00000127022 OTTHUMG00000130910 uc003mkl.4 L18887 NM_001024649 "CCDS93838|CCDS93840|CCDS93837|CCDS4447|CCDS93839" P27824 "1326756|8136357" MGI:88261 RGD:2266 114217 HGNC:1473 "ENST00000247461.9|NM_001746.4" +HGNC:20040 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 CAP "CAP, adenylate cyclase-associated protein 1 (yeast)|adenylate cyclase associated protein 1" 2003-07-17 2017-05-17 2023-01-20 10487 ENSG00000131236 OTTHUMG00000004493 uc001cey.5 L12168 NM_006367 "CCDS81304|CCDS41309" Q01518 "1406678|8761950" MGI:88262 RGD:620309 617801 HGNC:20040 "ENST00000372805.8|NM_006367.4" HGNC:31134 CAP1P1 CAP1 pseudogene 1 pseudogene pseudogene Approved 3p12.3 03p12.3 2007-08-17 2020-04-20 401076 ENSG00000240809 OTTHUMG00000158861 NG_027734 PGOHUM00000299482 HGNC:31134 HGNC:31970 CAP1P2 CAP1 pseudogene 2 pseudogene pseudogene Approved 10q11.21 10q11.21 2007-08-17 2020-04-20 399748 ENSG00000232004 OTTHUMG00000018035 NG_022144 HGNC:31970 -HGNC:20039 CAP2 cyclase associated actin cytoskeleton regulatory protein 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 CAP, adenylate cyclase-associated protein, 2 (yeast) 2003-05-12 2017-05-17 2023-01-20 10486 ENSG00000112186 OTTHUMG00000014311 uc003ncb.4 BC008481 NM_001363533 "CCDS87368|CCDS4539|CCDS87369" P40123 "7962207|8761950" MGI:1914502 RGD:620310 618385 HGNC:20039 "ENST00000229922.7|NM_006366.3" HGNC:20039 +HGNC:20039 CAP2 cyclase associated actin cytoskeleton regulatory protein 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 CAP, adenylate cyclase-associated protein, 2 (yeast) 2003-05-12 2017-05-17 2023-01-20 10486 ENSG00000112186 OTTHUMG00000014311 uc003ncb.4 BC008481 NM_001363533 "CCDS87369|CCDS4539|CCDS87368" P40123 "7962207|8761950" MGI:1914502 RGD:620310 618385 HGNC:20039 "ENST00000229922.7|NM_006366.3" HGNC:20039 HGNC:20142 CAP2P1 cyclase associated actin cytoskeleton regulatory protein 2 pseudogene 1 pseudogene pseudogene Approved 14q31.3 14q31.3 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 2003-05-12 2017-05-26 2017-05-26 353163 ENSG00000259151 OTTHUMG00000170969 BF062148 NG_002772 PGOHUM00000247881 HGNC:20142 -HGNC:1474 CAPG capping actin protein, gelsolin like protein-coding gene gene with protein product Approved 2p11.2 02p11.2 MCP macrophage capping protein AFCP capping protein (actin filament), gelsolin-like Gelsolin/villins 950 1993-12-14 2016-01-18 2023-01-20 822 ENSG00000042493 OTTHUMG00000130183 uc061lgh.1 M94345 NM_001747 "CCDS1974|CCDS58715" P40121 "1322908|12754261" MGI:1098259 RGD:1311724 153615 HGNC:1474 "ENST00000263867.9|NM_001747.4" +HGNC:1474 CAPG capping actin protein, gelsolin like protein-coding gene gene with protein product Approved 2p11.2 02p11.2 MCP macrophage capping protein AFCP capping protein (actin filament), gelsolin-like Gelsolin/villins 950 1993-12-14 2016-01-18 2023-01-20 822 ENSG00000042493 OTTHUMG00000130183 uc061lgh.1 M94345 NM_001747 "CCDS58715|CCDS1974" P40121 "1322908|12754261" MGI:1098259 RGD:1311724 153615 HGNC:1474 "ENST00000263867.9|NM_001747.4" HGNC:1476 CAPN1 calpain 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "muCANP|muCL|CANP|CANPL1" calpain 1, (mu/I) large subunit "EF-hand domain containing|Calpains" "863|975" 1989-06-30 2016-01-19 2023-01-20 823 ENSG00000014216 OTTHUMG00000165614 uc009yqd.3 X04366 NM_001198868 CCDS44644 P07384 "3017764|2209092" MGI:88263 RGD:2267 114220 C02.001 objectId:2336 3.4.22.52 HGNC:1476 "ENST00000279247.11|NM_005186.4" HGNC:1476 HGNC:56068 CAPN1-AS1 CAPN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Antisense RNAs 1987 2021-12-13 2021-12-13 728975 ENSG00000254614 NR_145677 -HGNC:1479 CAPN2 calpain 2 protein-coding gene gene with protein product Approved 1q41 01q41 "mCANP|CANPml|CANPL2" calpain 2, (m/II) large subunit "EF-hand domain containing|Calpains" "863|975" 1989-06-30 2016-01-19 2023-01-20 824 ENSG00000162909 OTTHUMG00000037376 uc001hob.5 J04700 NM_001748 "CCDS53478|CCDS31035" P17655 "2852952|2539381" MGI:88264 RGD:2268 114230 C02.002 objectId:2337 3.4.22.52 HGNC:1479 "ENST00000295006.6|NM_001748.5" -HGNC:1480 CAPN3 calpain 3 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "CANP3|p94|nCL-1" "LGMD2|LGMD2A" "EF-hand domain containing|Calpains" "863|975" 1989-06-30 2015-07-03 2023-03-15 825 ENSG00000092529 OTTHUMG00000130619 uc001zpp.2 X85030 NM_000070 "CCDS10085|CCDS45245|CCDS32207|CCDS45246|CCDS10086" P20807 "2555341|7720071" MGI:107437 RGD:2269 "Calpain-3; Limb-Girdle Muscular Dystrophy, type 2A|http://www.LOVD.nl/CAPN3|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=CAPN3|LRG_849|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_849.xml" 114240 119172 C02.004 3.4.22.52 HGNC:1480 "ENST00000397163.8|NM_000070.3" HGNC:1480 +HGNC:1479 CAPN2 calpain 2 protein-coding gene gene with protein product Approved 1q41 01q41 "mCANP|CANPml|CANPL2" calpain 2, (m/II) large subunit "EF-hand domain containing|Calpains" "863|975" 1989-06-30 2016-01-19 2023-01-20 824 ENSG00000162909 OTTHUMG00000037376 uc001hob.5 J04700 NM_001748 "CCDS31035|CCDS53478" P17655 "2852952|2539381" MGI:88264 RGD:2268 114230 C02.002 objectId:2337 3.4.22.52 HGNC:1479 "ENST00000295006.6|NM_001748.5" +HGNC:1480 CAPN3 calpain 3 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "CANP3|p94|nCL-1" "LGMD2|LGMD2A" "EF-hand domain containing|Calpains" "863|975" 1989-06-30 2015-07-03 2023-03-15 825 ENSG00000092529 OTTHUMG00000130619 uc001zpp.2 X85030 NM_000070 "CCDS45246|CCDS10086|CCDS10085|CCDS45245|CCDS32207" P20807 "2555341|7720071" MGI:107437 RGD:2269 "Calpain-3; Limb-Girdle Muscular Dystrophy, type 2A|http://www.LOVD.nl/CAPN3|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=CAPN3|LRG_849|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_849.xml" 114240 119172 C02.004 3.4.22.52 HGNC:1480 "ENST00000397163.8|NM_000070.3" HGNC:1480 HGNC:1482 CAPN5 calpain 5 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "nCL-3|HTRA3|ADNIV" VRNI vitreoretinopathy, neovascular inflammatory "C2 domain containing|Calpains" "823|975" 1997-11-05 2023-01-20 726 ENSG00000149260 OTTHUMG00000165192 uc001oxx.4 NM_004055 CCDS8248 O15484 "9503024|9367857|23055945" MGI:1100859 RGD:620084 602537 331692 C02.011 HGNC:1482 "ENST00000648180.1|NM_004055.5" HGNC:1482 HGNC:1483 CAPN6 calpain 6 protein-coding gene gene with protein product Approved Xq23 Xq23 "CAPNX|CalpM|CANPX" "C2 domain containing|Calpains" "823|975" 1997-11-05 2023-01-20 827 ENSG00000077274 OTTHUMG00000022203 uc004epc.3 AF029232 NM_014289 CCDS14555 Q9Y6Q1 "9503024|9339374" MGI:1100850 RGD:70960 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CAPN6 300146 C02.971 HGNC:1483 "ENST00000324068.2|NM_014289.4" HGNC:1484 CAPN7 calpain 7 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 PalBH "calpain like protease|homolog of Aspergillus Nidulans PALB" Calpains 975 1999-12-02 2023-01-20 23473 ENSG00000131375 OTTHUMG00000129863 uc003bzn.4 AB028639 NM_014296 CCDS2624 Q9Y6W3 "8163008|10051333" MGI:1338030 RGD:1304855 606400 C02.029 HGNC:1484 "ENST00000253693.7|NM_014296.3" @@ -3355,8 +3355,8 @@ HGNC:1481 CAPNS1 calpain small subunit 1 protein-coding gene gene with protein p HGNC:39562 CAPNS1P1 calpain small subunit 1 pseudogene 1 pseudogene pseudogene Approved 1p22.2 01p22.2 2011-03-09 2016-02-10 2016-02-10 391053 ENSG00000215874 OTTHUMG00000010125 NG_022791 PGOHUM00000244788 HGNC:39562 HGNC:16371 CAPNS2 calpain small subunit 2 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "MGC12536|MGC14804" EF-hand domain containing 863 2004-07-19 2016-02-10 2023-01-20 84290 ENSG00000256812 OTTHUMG00000167812 uc002eid.2 AY052551 NM_032330 CCDS54010 Q96L46 11853546 MGI:1916793 RGD:1583620 616767 HGNC:16371 "ENST00000457326.3|NM_032330.3" HGNC:6743 CAPRIN1 cell cycle associated protein 1 protein-coding gene gene with protein product Approved 11p13 11p13 "caprin-1|RNG105" cytoplasmic activation/proliferation-associated protein-1 "M11S1|GPIAP1" "membrane component, chromosome 11, surface marker 1|GPI-anchored membrane protein 1" 1995-12-18 2007-03-27 2007-03-27 2023-01-20 4076 ENSG00000135387 OTTHUMG00000166248 uc001mvh.2 BC001731 NM_005898 "CCDS31453|CCDS31454" Q14444 "7657653|16177067|17210633|14764709|15471883" MGI:1858234 RGD:1305707 601178 HGNC:6743 "ENST00000341394.9|NM_005898.5" HGNC:6743 -HGNC:21259 CAPRIN2 caprin family member 2 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "EEG1|FLJ22569|FLJ11391|caprin-2|RNG140" C1QDC1 C1q domain containing 1 C1q domain containing 1641 2003-06-02 2007-03-27 2007-03-27 2023-03-15 65981 ENSG00000110888 OTTHUMG00000169185 uc001rjh.2 AY074491 NM_023925 "CCDS91671|CCDS8720|CCDS41766|CCDS91675|CCDS91672|CCDS55816|CCDS91677|CCDS91678|CCDS91676" Q6IMN6 "11347906|14764709" MGI:2448541 RGD:1593683 610375 HGNC:21259 "ENST00000695402.1|NM_001385503.1" -HGNC:1487 CAPS calcyphosine protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CAPS1|MGC126562" "calcyphosine 1|thyroid protein p24" EF-hand domain containing 863 1990-05-31 2023-01-20 828 ENSG00000105519 OTTHUMG00000180619 uc002mdt.4 X97966 NM_004058 "CCDS12156|CCDS45934" Q13938 "9224948|2265558" RGD:41237504 114212 HGNC:1487 "ENST00000588776.8|NM_004058.5" +HGNC:21259 CAPRIN2 caprin family member 2 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "EEG1|FLJ22569|FLJ11391|caprin-2|RNG140" C1QDC1 C1q domain containing 1 C1q domain containing 1641 2003-06-02 2007-03-27 2007-03-27 2023-03-15 65981 ENSG00000110888 OTTHUMG00000169185 uc001rjh.2 AY074491 NM_023925 "CCDS41766|CCDS91672|CCDS91675|CCDS91671|CCDS91676|CCDS91678|CCDS55816|CCDS8720|CCDS91677" Q6IMN6 "11347906|14764709" MGI:2448541 RGD:1593683 610375 HGNC:21259 "ENST00000695402.1|NM_001385503.1" +HGNC:1487 CAPS calcyphosine protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CAPS1|MGC126562" "calcyphosine 1|thyroid protein p24" EF-hand domain containing 863 1990-05-31 2023-01-20 828 ENSG00000105519 OTTHUMG00000180619 uc002mdt.4 X97966 NM_004058 "CCDS45934|CCDS12156" Q13938 "9224948|2265558" RGD:41237504 114212 HGNC:1487 "ENST00000588776.8|NM_004058.5" HGNC:16471 CAPS2 calcyphosine 2 protein-coding gene gene with protein product Approved 12q21.1-q21.2 12q21.1-q21.2 calcyphosphine 2 EF-hand domain containing 863 2002-09-16 2005-05-09 2023-03-15 84698 ENSG00000180881 OTTHUMG00000152787 uc001sxk.4 AF251056 NM_001286547 CCDS91727 Q9BXY5 11846421 MGI:2441980 RGD:1309826 607724 HGNC:16471 "ENST00000699294.1|NM_001355024.4" HGNC:16471 HGNC:40769 CAPS2-AS1 CAPS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.1 12q21.1 Antisense RNAs 1987 2019-07-24 2019-07-24 107983975 ENSG00000254451 OTTHUMG00000165409 XR_001749212 HGNC:40769 HGNC:28375 CAPSL calcyphosine like protein-coding gene gene with protein product Approved 5p13.2 05p13.2 MGC26610 calcyphosine-like EF-hand domain containing 863 2005-05-09 2016-01-06 2023-01-20 133690 ENSG00000152611 OTTHUMG00000131109 uc003jju.2 BC017586 NM_144647 CCDS3912 Q8WWF8 31186450 MGI:1922818 RGD:1308776 618799 HGNC:28375 "ENST00000651391.1|NM_001042625.2" @@ -3369,10 +3369,10 @@ HGNC:54565 CAPZA1P4 CAPZA1 pseudogene 4 pseudogene pseudogene Approved 7q32.3 07 HGNC:54566 CAPZA1P5 CAPZA1 pseudogene 5 pseudogene pseudogene Approved 7q35 07q35 2019-10-16 2020-01-21 100422324 ENSG00000270729 NG_026521 HGNC:1490 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "CAPZ|CAPPA2" F-actin capping protein alpha-2 subunit "capping protein (actin filament) muscle Z-line, alpha 2|capping actin protein of muscle Z-line alpha subunit 2" Dynactin subunits 943 1994-05-26 2018-04-23 2023-01-20 830 ENSG00000198898 OTTHUMG00000023185 uc003vil.4 NM_006136 CCDS5768 P47755 MGI:106222 RGD:1549770 601571 HGNC:1490 "ENST00000361183.8|NM_006136.3" HGNC:1490 HGNC:24205 CAPZA3 capping actin protein of muscle Z-line subunit alpha 3 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "Gsg3|CAPPA3" "capping protein (actin filament) muscle Z-line, alpha 3|capping actin protein of muscle Z-line alpha subunit 3" Dynactin subunits 943 2004-01-26 2018-04-23 2023-01-20 93661 ENSG00000177938 OTTHUMG00000169001 uc001rdy.4 AB053259 NM_033328 CCDS8681 Q96KX2 12029070 MGI:106221 RGD:2271 608722 HGNC:24205 "ENST00000317658.5|NM_033328.3" -HGNC:1491 CAPZB capping actin protein of muscle Z-line subunit beta protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "capping protein (actin filament) muscle Z-line, beta|capping actin protein of muscle Z-line beta subunit" Dynactin subunits 943 1994-05-26 2018-04-23 2023-01-20 832 ENSG00000077549 OTTHUMG00000002556 uc001bce.5 U03271 NM_001206540 "CCDS55579|CCDS41277|CCDS72718|CCDS72717" P47756 MGI:104652 RGD:1359099 601572 HGNC:1491 "ENST00000264202.8|NM_004930.5" +HGNC:1491 CAPZB capping actin protein of muscle Z-line subunit beta protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "capping protein (actin filament) muscle Z-line, beta|capping actin protein of muscle Z-line beta subunit" Dynactin subunits 943 1994-05-26 2018-04-23 2023-01-20 832 ENSG00000077549 OTTHUMG00000002556 uc001bce.5 U03271 NM_001206540 "CCDS41277|CCDS55579|CCDS72718|CCDS72717" P47756 MGI:104652 RGD:1359099 601572 HGNC:1491 "ENST00000264202.8|NM_004930.5" HGNC:54734 CAPZBP1 CAPZB pseudogene 1 pseudogene pseudogene Approved 2q12.1 02q12.1 2019-12-18 2020-01-21 644265 ENSG00000231723 NG_023294 HGNC:16394 CARD6 caspase recruitment domain family member 6 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 CINCIN1 caspase recruitment domain family, member 6 Caspase recruitment domain containing 959 2001-08-13 2015-11-18 2023-01-20 84674 ENSG00000132357 OTTHUMG00000094775 uc003jmg.4 AF356193 NM_032587 CCDS3935 Q9BX69 12775719 MGI:3032959 RGD:1305805 609986 HGNC:16394 "ENST00000254691.10|NM_032587.4" -HGNC:17057 CARD8 caspase recruitment domain family member 8 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "TUCAN|KIAA0955|CARDINAL|NDPP|Dakar" caspase recruitment domain family, member 8 Caspase recruitment domain containing 959 2003-12-03 2015-11-18 2023-01-20 22900 ENSG00000105483 OTTHUMG00000165047 uc061ark.1 AB023172 NM_014959 "CCDS54287|CCDS12712|CCDS54288|CCDS54289" Q9Y2G2 "10231032|11408476" 609051 S79.001 HGNC:17057 "ENST00000651546.1|NM_001184900.3" +HGNC:17057 CARD8 caspase recruitment domain family member 8 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "TUCAN|KIAA0955|CARDINAL|NDPP|Dakar" caspase recruitment domain family, member 8 Caspase recruitment domain containing 959 2003-12-03 2015-11-18 2023-01-20 22900 ENSG00000105483 OTTHUMG00000165047 uc061ark.1 AB023172 NM_014959 "CCDS54288|CCDS54287|CCDS12712|CCDS54289" Q9Y2G2 "10231032|11408476" 609051 S79.001 HGNC:17057 "ENST00000651546.1|NM_001184900.3" HGNC:51408 CARD8-AS1 CARD8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 "LOC100505812|AC008392.1" Antisense RNAs 1987 2014-11-20 2018-06-13 100505812 ENSG00000268001 OTTHUMG00000183194 NR_040599 "25392693|26147888|29881308" CARD8-AS1 HGNC:51408 HGNC:16391 CARD9 caspase recruitment domain family member 9 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 caspase recruitment domain family, member 9 Caspase recruitment domain containing 959 2001-08-13 2015-11-18 2023-01-20 64170 ENSG00000187796 OTTHUMG00000020925 uc004chg.4 AF311287 NM_052813 "CCDS6997|CCDS48057" Q9H257 11053425 MGI:2685628 RGD:708370 LRG_178|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_178.xml 607212 225286 HGNC:16391 "ENST00000371732.10|NM_052813.5" HGNC:16391 HGNC:16422 CARD10 caspase recruitment domain family member 10 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "CARMA3|BIMP1" caspase recruitment domain family, member 10 "Membrane associated guanylate kinases|Caspase recruitment domain containing" "904|959" 2002-09-19 2015-11-18 2023-01-20 29775 ENSG00000100065 OTTHUMG00000150592 uc062dxz.1 AF086324 NM_014550 CCDS13948 Q9BWT7 "11259443|11356195" MGI:2146012 RGD:1304949 607209 HGNC:16422 "ENST00000251973.10|NM_014550.4" @@ -3383,21 +3383,21 @@ HGNC:33701 CARD16 caspase recruitment domain family member 16 protein-coding gen HGNC:33827 CARD17P caspase recruitment domain family member 17, pseudogene pseudogene pseudogene Approved 11q22.3 11q22.3 INCA Inhibitory CARD CARD17 "caspase recruitment domain family, member 17|caspase recruitment domain family member 17" 2008-10-29 2022-05-26 2022-05-26 2023-03-15 440068 ENSG00000255221 OTTHUMG00000166163 uc001pir.1 NR_172520 Q5XLA6 15383541 609490 HGNC:33827 HGNC:28861 CARD18 caspase recruitment domain family member 18 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "UNQ5804|ICEBERG|pseudo-ICE" caspase recruitment domain family, member 18 Caspase recruitment domain containing 959 2008-09-02 2015-11-18 2023-01-20 59082 ENSG00000255501 OTTHUMG00000166165 uc021qpy.2 AY358231 NM_021571 CCDS53705 P57730 11051551 605354 HGNC:28861 "ENST00000530950.2|NM_021571.4" HGNC:28148 CARD19 caspase recruitment domain family member 19 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "MGC11115|bA370F5.1|BinCARD" Bcl10-interacting protein with CARD C9orf89 "chromosome 9 open reading frame 89|caspase recruitment domain family, member 19" Caspase recruitment domain containing 959 2004-02-19 2015-10-20 2015-11-18 2023-01-20 84270 ENSG00000165233 OTTHUMG00000020243 AK057716 NM_032310 CCDS6702 Q96LW7 15637807 MGI:1915730 RGD:1306058 617726 HGNC:28148 "ENST00000375464.7|NM_032310.5" -HGNC:14435 CARF calcium responsive transcription factor protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "FLJ21579|NYD-SP24" calcium-response factor ALS2CR8 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 2001-01-26 2013-06-12 2013-06-12 2023-01-20 79800 ENSG00000138380 OTTHUMG00000154528 AB053309 NM_001104586 "CCDS42801|CCDS63091" Q8N187 "11586298|11832226" MGI:2182269 RGD:1306822 607586 HGNC:14435 "ENST00000438828.4|NM_024744.17" +HGNC:14435 CARF calcium responsive transcription factor protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "FLJ21579|NYD-SP24" calcium-response factor ALS2CR8 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 2001-01-26 2013-06-12 2013-06-12 2023-01-20 79800 ENSG00000138380 OTTHUMG00000154528 AB053309 NM_001104586 "CCDS63091|CCDS42801" Q8N187 "11586298|11832226" MGI:2182269 RGD:1306822 607586 HGNC:14435 "ENST00000438828.4|NM_024744.17" HGNC:17150 CARHSP1 calcium regulated heat stable protein 1 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "CRHSP-24|CSDC1" "calcium regulated heat stable protein 1 (24kD)|calcium regulated heat stable protein 1, 24kDa" 2002-06-11 2015-11-09 2023-01-20 23589 ENSG00000153048 OTTHUMG00000129695 uc031qvd.2 AF115345 NM_014316 CCDS10537 Q9Y2V2 9712905 MGI:1196368 RGD:708415 616885 HGNC:17150 "ENST00000311052.10|NM_014316.4" HGNC:55361 CARHSP1-DT CARHSP1 divergent transcript non-coding RNA RNA, long non-coding Approved 16p13.2 16p13.2 Divergent transcripts 1990 2020-11-11 2020-11-11 119545623 ENSG00000261481 HGNC:23393 CARM1 coactivator associated arginine methyltransferase 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 PRMT4 7BS protein arginine methyltranferases 2057 2003-11-14 2015-11-17 2023-01-20 10498 ENSG00000142453 OTTHUMG00000180699 uc002mpz.4 AF055027 NM_199141 "CCDS12250|CCDS92516" Q86X55 "10381882|11724789" MGI:1913208 RGD:1305879 603934 objectId:1255 HGNC:23393 "ENST00000327064.9|NM_199141.2" HGNC:23392 CARM1P1 coactivator associated arginine methyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 9p24.2 09p24.2 CARM1L coactivator associated arginine methyltransferase 1-like 2003-11-14 2010-10-11 2015-11-17 2015-11-17 100130873 ENSG00000227835 OTTHUMG00000019453 NG_009935 PGOHUM00000263531 HGNC:23392 HGNC:55102 CARMAL coronary artery disease region linked MFGE8 regulatory lncRNA non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 RP11-326A19.4 "coronary artery disease associated region between MFGE8 and ABHD2 associated lncRNA|CARMA associated lncRNA'" Long non-coding RNAs with non-systematic symbols 1992 2020-06-26 2020-12-18 102724566 ENSG00000260123 NR_183880 32625236 HGNC:21581 CARMIL1 capping protein regulator and myosin 1 linker 1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "dJ501N12.1|FLJ20048|CARMIL" capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium) "LRRC16|LRRC16A" "leucine rich repeat containing 16|leucine rich repeat containing 16A" 2003-06-25 2016-06-14 2016-06-14 2023-01-20 55604 ENSG00000079691 OTTHUMG00000014393 uc011djw.2 AK000055 NM_017640 "CCDS93871|CCDS54973" Q5VZK9 19846667 MGI:1915982 RGD:1306623 609593 HGNC:21581 "ENST00000329474.7|NM_017640.6" -HGNC:27089 CARMIL2 capping protein regulator and myosin 1 linker 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 LRRC16C "RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein|leucine rich repeat containing 16C" RLTPR RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 2008-02-12 2016-04-22 2016-04-22 2023-01-20 146206 ENSG00000159753 OTTHUMG00000184043 uc002etn.4 AB113647 NM_001013838 "CCDS81998|CCDS45513" Q6F5E8 "15588584|19846667|26578515" MGI:2685431 RGD:1562390 610859 470980 HGNC:27089 "ENST00000334583.11|NM_001013838.3" HGNC:27089 +HGNC:27089 CARMIL2 capping protein regulator and myosin 1 linker 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 LRRC16C "RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein|leucine rich repeat containing 16C" RLTPR RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 2008-02-12 2016-04-22 2016-04-22 2023-01-20 146206 ENSG00000159753 OTTHUMG00000184043 uc002etn.4 AB113647 NM_001013838 "CCDS45513|CCDS81998" Q6F5E8 "15588584|19846667|26578515" MGI:2685431 RGD:1562390 610859 470980 HGNC:27089 "ENST00000334583.11|NM_001013838.3" HGNC:27089 HGNC:56522 CARMIL2P1 CARMIL2 pseudogene 1 pseudogene pseudogene Approved 3q22.1 03q22.1 2022-10-28 2022-10-28 127460874 ENSG00000248659 NG_148536 PGOHUM00000299171 HGNC:20272 CARMIL3 capping protein regulator and myosin 1 linker 3 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "BC008134|crml-1" "C14orf121|LRRC16B" "chromosome 14 open reading frame 121|leucine rich repeat containing 16B" 2003-01-17 2016-04-22 2016-04-22 2023-01-20 90668 ENSG00000186648 OTTHUMG00000172023 uc001wlj.3 AI017934 NM_138360 CCDS32054 Q8ND23 19846667 MGI:2448573 RGD:1359120 614716 HGNC:20272 "ENST00000342740.6|NM_138360.4" HGNC:42872 CARMN cardiac mesoderm enhancer-associated non-coding RNA non-coding RNA RNA, long non-coding Approved 5q32 05q32 CARMEN MIR143 and MIR145 host gene MIR143HG "MIR143 host gene (non-protein coding)|MIR143 host gene" "MicroRNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1992" 2011-09-02 2015-11-05 2015-11-05 2017-03-15 728264 ENSG00000249669 OTTHUMG00000163464 uc063iod.1 NR_105059 "26423156|27565737" MGI:4439832 RGD:10401674 carmen CARMN HGNC:42872 HGNC:23435 CARNMT1 carnosine N-methyltransferase 1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 FLJ25795 C9orf41 chromosome 9 open reading frame 41 7BS small molecule methyltransferases 2063 2003-11-18 2015-07-10 2015-07-10 2023-01-20 138199 ENSG00000156017 OTTHUMG00000020032 AK098661 NM_152420 CCDS6649 Q8N4J0 26001783 MGI:1914633 RGD:1311863 616552 HGNC:23435 "ENST00000376834.8|NM_152420.3" HGNC:51188 CARNMT1-AS1 CARNMT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.13 09q21.13 C9orf41-AS1 C9orf41 antisense RNA 1 Antisense RNAs 1987 2014-08-01 2018-11-26 2018-11-26 2018-11-26 101927380 ENSG00000203321 OTTHUMG00000020029 BC043649 NR_121183 C9orf41-AS1 HGNC:51188 HGNC:29268 CARNS1 carnosine synthase 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 KIAA1394 ATPGD1 ATP-grasp domain containing 1 2008-10-21 2010-03-25 2010-03-25 2023-01-20 57571 ENSG00000172508 OTTHUMG00000167672 uc058egc.1 NM_020811 "CCDS44658|CCDS53667" A5YM72 20097752 MGI:2147595 RGD:1308234 613368 HGNC:29268 "ENST00000687366.1|NM_001166222.2" -HGNC:1493 CARS1 cysteinyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 cysteine tRNA ligase 1, cytoplasmic CARS cysteinyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 1992-12-10 2019-07-15 2019-07-15 2023-03-15 833 ENSG00000110619 OTTHUMG00000010927 uc001lxh.4 AF288207 NM_001751 "CCDS91411|CCDS41602|CCDS41600|CCDS7742" P49589 8468064 MGI:1351477 RGD:1310747 123859 357449 6.1.1.16 HGNC:1493 "ENST00000380525.9|NM_001014437.3" +HGNC:1493 CARS1 cysteinyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 cysteine tRNA ligase 1, cytoplasmic CARS cysteinyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 1992-12-10 2019-07-15 2019-07-15 2023-03-15 833 ENSG00000110619 OTTHUMG00000010927 uc001lxh.4 AF288207 NM_001751 "CCDS41600|CCDS41602|CCDS7742|CCDS91411" P49589 8468064 MGI:1351477 RGD:1310747 123859 357449 6.1.1.16 HGNC:1493 "ENST00000380525.9|NM_001014437.3" HGNC:40125 CARS1-AS1 CARS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 CARS-AS1 "CARS antisense RNA 1 (non-protein coding)|CARS antisense RNA 1" Antisense RNAs 1987 2011-11-18 2019-12-13 2019-12-13 2019-12-13 100852407 ENSG00000247473 OTTHUMG00000165360 uc001lxi.1 AK093033 NR_046580 CARS-AS1 HGNC:40125 HGNC:50477 CARS1P1 cysteinyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 15q23 15q23 CARSP1 cysteinyl-tRNA synthetase pseudogene 1 2014-05-06 2019-07-15 2019-07-15 2019-07-15 100420042 ENSG00000271232 OTTHUMG00000184898 NG_025389 PGOHUM00000247154 HGNC:50477 HGNC:50478 CARS1P2 cysteinyl-tRNA synthetase 1 pseudogene 2 pseudogene pseudogene Approved 8q23.3 08q23.3 CARSP2 cysteinyl-tRNA synthetase pseudogene 2 2014-05-06 2019-07-15 2019-07-15 2019-07-15 106481707 ENSG00000253756 OTTHUMG00000164902 NG_043273 PGOHUM00000249489 HGNC:50478 @@ -3419,12 +3419,12 @@ HGNC:49836 CASC21 cancer susceptibility 21 non-coding RNA RNA, long non-coding A HGNC:50627 CASC22 cancer susceptibility 22 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 "TCONS_00024290|LincRNA-ENST00000515084" LINC01373 "long intergenic non-protein coding RNA 1373|cancer susceptibility candidate 22 (non-protein coding)|cancer susceptibility 22 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2014-05-30 2014-06-18 2018-05-16 2018-05-16 283854 ENSG00000260887 OTTHUMG00000173239 AK093211 NR_135281 24879036 HGNC:50627 HGNC:50865 CASC23 cancer susceptibility 23 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 LINC01464 long intergenic non-protein coding RNA 1464 "cancer susceptibility candidate 23 (non-protein coding)|cancer susceptibility 23 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2014-07-14 2018-05-16 2018-05-16 103581031 ENSG00000255420 OTTHUMG00000165689 BC027619 NR_125366 CASC23 HGNC:50865 HGNC:16014 CASD1 CAS1 domain containing 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "FLJ21213|FLJ21879|C7orf12" chromosome 7 open reading frame 12 2006-03-07 2023-01-20 64921 ENSG00000127995 OTTHUMG00000023356 uc003uni.5 AF355594 NM_022900 CCDS5636 Q96PB1 "11703667|11528394" MGI:2384865 RGD:1596912 611686 HGNC:16014 "ENST00000297273.9|NM_022900.5" -HGNC:1497 CASK calcium/calmodulin dependent serine protein kinase protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "LIN2|CAGH39|FGS4" TNRC8 "trinucleotide repeat containing 8|calcium/calmodulin-dependent serine protein kinase (MAGUK family)" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1998-09-25 2016-05-24 2023-01-20 8573 ENSG00000147044 OTTHUMG00000021378 uc004dfl.5 AF035582 NM_003688 "CCDS48095|CCDS48094|CCDS94598|CCDS14257|CCDS94597" O14936 9722958 MGI:1309489 RGD:62004 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CASK 300172 165976 objectId:1959 HGNC:1497 "ENST00000378163.7|NM_001367721.1" HGNC:1497 +HGNC:1497 CASK calcium/calmodulin dependent serine protein kinase protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "LIN2|CAGH39|FGS4" TNRC8 "trinucleotide repeat containing 8|calcium/calmodulin-dependent serine protein kinase (MAGUK family)" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1998-09-25 2016-05-24 2023-01-20 8573 ENSG00000147044 OTTHUMG00000021378 uc004dfl.5 AF035582 NM_003688 "CCDS48095|CCDS48094|CCDS94598|CCDS94597|CCDS14257" O14936 9722958 MGI:1309489 RGD:62004 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CASK 300172 165976 objectId:1959 HGNC:1497 "ENST00000378163.7|NM_001367721.1" HGNC:1497 HGNC:40126 CASK-AS1 CASK antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.4 Xp11.4 CASK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873928 ENSG00000233033 OTTHUMG00000021372 uc064yqt.1 CASK-AS1 HGNC:20879 CASKIN1 CASK interacting protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA1306|ANKS5A" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2003-04-16 2023-01-20 57524 ENSG00000167971 OTTHUMG00000177045 uc010bsg.2 AF451977 NM_020764 CCDS42103 Q8WXD9 12040031 MGI:2442952 RGD:620191 612184 HGNC:20879 "ENST00000343516.8|NM_020764.4" -HGNC:18200 CASKIN2 CASK interacting protein 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "KIAA1139|FLJ21609|ANKS5B" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2003-04-16 2023-01-20 57513 ENSG00000177303 OTTHUMG00000179683 uc002joc.5 AB032965 NM_020753 "CCDS45775|CCDS11723" Q8WXE0 12040031 MGI:2157062 RGD:1309738 612185 HGNC:18200 "ENST00000321617.8|NM_020753.5" +HGNC:18200 CASKIN2 CASK interacting protein 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "KIAA1139|FLJ21609|ANKS5B" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2003-04-16 2023-01-20 57513 ENSG00000177303 OTTHUMG00000179683 uc002joc.5 AB032965 NM_020753 "CCDS11723|CCDS45775" Q8WXE0 12040031 MGI:2157062 RGD:1309738 612185 HGNC:18200 "ENST00000321617.8|NM_020753.5" HGNC:1498 CASKP1 calcium/calmodulin dependent serine protein kinase pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 CASKP "calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene|calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 1|calcium/calmodulin dependent serine protein kinase (MAGUK family) pseudogene 1" 1999-05-17 2010-03-17 2016-06-08 2016-10-05 10029 ENSG00000234059 OTTHUMG00000036325 NG_002805.5 HGNC:1498 -HGNC:1499 CASP1 caspase 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 ICE "caspase-1|interleukin 1, beta, convertase" IL1BC "caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)|caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)|caspase 1, apoptosis-related cysteine peptidase" "Caspases|Caspase recruitment domain containing" "468|959" 1992-05-07 2015-11-12 2023-01-20 834 ENSG00000137752 OTTHUMG00000048072 uc021qpp.3 U13697 NM_033292 "CCDS8332|CCDS8331|CCDS8330|CCDS8329|CCDS53704" P29466 "1373520|9250871" MGI:96544 RGD:2274 147678 470036 C14.001 objectId:1617 3.4.22.36 HGNC:1499 "ENST00000533400.6|NM_001257118.3" +HGNC:1499 CASP1 caspase 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 ICE "caspase-1|interleukin 1, beta, convertase" IL1BC "caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)|caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)|caspase 1, apoptosis-related cysteine peptidase" "Caspases|Caspase recruitment domain containing" "468|959" 1992-05-07 2015-11-12 2023-01-20 834 ENSG00000137752 OTTHUMG00000048072 uc021qpp.3 U13697 NM_033292 "CCDS8329|CCDS8330|CCDS8331|CCDS8332|CCDS53704" P29466 "1373520|9250871" MGI:96544 RGD:2274 147678 470036 C14.001 objectId:1617 3.4.22.36 HGNC:1499 "ENST00000533400.6|NM_001257118.3" HGNC:43775 CASP1P1 caspase 1 pseudogene 1 pseudogene pseudogene Approved 11q22.3 11q22.3 caspase 1, apoptosis-related cysteine peptidase pseudogene 1 2012-02-24 2015-11-12 2015-11-12 100874457 ENSG00000255430 OTTHUMG00000166164 NG_032566 PGOHUM00000242460 HGNC:43775 HGNC:43776 CASP1P2 caspase 1 pseudogene 2 pseudogene pseudogene Approved 11q22.3 11q22.3 caspase 1, apoptosis-related cysteine peptidase pseudogene 2 2012-02-24 2015-11-12 2020-01-22 440067 ENSG00000254750 OTTHUMG00000166162 NR_131905 PGOHUM00000257862 HGNC:43776 HGNC:43777 CASP1P3 caspase 1 pseudogene 3 pseudogene pseudogene Approved 11q22.3 11q22.3 caspase 1, apoptosis-related cysteine peptidase pseudogene 3 2012-02-24 2015-11-12 2015-11-12 100422634 NG_024409 PGOHUM00000257863 HGNC:43777 @@ -3433,32 +3433,32 @@ HGNC:1504 CASP3 caspase 3 protein-coding gene gene with protein product Approved HGNC:43596 CASP3P1 caspase 3 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 caspase 3, apoptosis-related cysteine peptidase pseudogene 1 2011-11-22 2015-11-12 2015-11-12 100131616 ENSG00000237033 OTTHUMG00000009345 NG_022722 PGOHUM00000244069 HGNC:43596 HGNC:1505 CASP4 caspase 4 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "ICE(rel)II|ICH-2|TX" "caspase 4, apoptosis-related cysteine protease|caspase 4, apoptosis-related cysteine peptidase" "Caspases|Caspase recruitment domain containing" "468|959" 1996-07-22 2015-11-12 2023-01-20 837 ENSG00000196954 OTTHUMG00000166078 uc001pid.2 U25804 NM_001225 "CCDS8327|CCDS41704" P49662 "7797510|9250871" MGI:107700 RGD:621757 602664 C14.007 objectId:1620 3.4.22.57 HGNC:1505 "ENST00000444739.7|NM_001225.4" HGNC:53657 CASP4LP caspase 4 like, pseudogene pseudogene pseudogene Approved 11q22.3 11q22.3 CASP17P caspase 17, pseudogene 2018-06-20 2020-01-22 2020-01-22 2020-01-22 643733 ENSG00000235505 OTTHUMG00000166076 NR_034078 HGNC:53657 -HGNC:1506 CASP5 caspase 5 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 ICE(rel)III "caspase 5, apoptosis-related cysteine protease|caspase 5, apoptosis-related cysteine peptidase" "Caspases|Caspase recruitment domain containing" "468|959" 1996-09-13 2015-11-12 2023-03-15 838 ENSG00000137757 OTTHUMG00000048073 uc010rva.2 NM_004347 "CCDS44719|CCDS44718|CCDS8328|CCDS44720" P51878 "7797592|9250871" MGI:107700 602665 C14.008 objectId:1621 3.4.22.58 HGNC:1506 "ENST00000260315.8|NM_004347.5" -HGNC:1507 CASP6 caspase 6 protein-coding gene gene with protein product Approved 4q25 04q25 "MCH2|caspase-6|CSP-6" mammalian Ced-3 homologue 2 "caspase 6, apoptosis-related cysteine protease|caspase 6, apoptosis-related cysteine peptidase" Caspases 468 1996-07-22 2015-11-12 2023-01-20 839 ENSG00000138794 OTTHUMG00000131914 uc003hzn.2 U20536 NM_001226 "CCDS3684|CCDS3685" P55212 "8780721|7796396" MGI:1312921 RGD:70967 601532 C14.005 objectId:1622 3.4.22.59 HGNC:1507 "ENST00000265164.7|NM_001226.4" -HGNC:1508 CASP7 caspase 7 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "MCH3|CMH-1|ICE-LAP3" "caspase 7, apoptosis-related cysteine protease|caspase 7, apoptosis-related cysteine peptidase" Caspases 468 1996-07-22 2015-11-12 2023-01-20 840 ENSG00000165806 OTTHUMG00000019076 uc010qsa.4 U37448 NM_033338 "CCDS73200|CCDS7580|CCDS58096|CCDS7582|CCDS7581" P55210 "8521391|8576161" MGI:109383 RGD:620944 601761 C14.004 objectId:1623 3.4.22.60 HGNC:1508 "ENST00000369318.8|NM_001227.5" -HGNC:1509 CASP8 caspase 8 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "MCH5|MACH|FLICE|Casp-8" "caspase 8, apoptosis-related cysteine protease|caspase 8, apoptosis-related cysteine peptidase" "Caspases|Death effector domain containing|Ripoptosome|Death inducing signaling complex " "468|1019|1340|1342" 1996-11-11 2015-11-12 2023-03-15 841 ENSG00000064012 OTTHUMG00000132821 uc002uxt.2 U60520 NM_001228 "CCDS2343|CCDS2345|CCDS92923|CCDS92922|CCDS2342|CCDS42799|CCDS42798" Q14790 "8681376|8681377" MGI:1261423 RGD:620945 "CASP8base: Mutation registry for Caspase 8 deficiency|http://structure.bmc.lu.se/idbase/CASP8base/|LRG_34|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_34.xml" CASP8 601763 138851 C14.009 objectId:1624 3.4.22.61 HGNC:1509 "ENST00000673742.1|NM_001372051.1" HGNC:1509 +HGNC:1506 CASP5 caspase 5 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 ICE(rel)III "caspase 5, apoptosis-related cysteine protease|caspase 5, apoptosis-related cysteine peptidase" "Caspases|Caspase recruitment domain containing" "468|959" 1996-09-13 2015-11-12 2023-03-15 838 ENSG00000137757 OTTHUMG00000048073 uc010rva.2 NM_004347 "CCDS44720|CCDS44718|CCDS8328|CCDS44719" P51878 "7797592|9250871" MGI:107700 602665 C14.008 objectId:1621 3.4.22.58 HGNC:1506 "ENST00000260315.8|NM_004347.5" +HGNC:1507 CASP6 caspase 6 protein-coding gene gene with protein product Approved 4q25 04q25 "MCH2|caspase-6|CSP-6" mammalian Ced-3 homologue 2 "caspase 6, apoptosis-related cysteine protease|caspase 6, apoptosis-related cysteine peptidase" Caspases 468 1996-07-22 2015-11-12 2023-01-20 839 ENSG00000138794 OTTHUMG00000131914 uc003hzn.2 U20536 NM_001226 "CCDS3685|CCDS3684" P55212 "8780721|7796396" MGI:1312921 RGD:70967 601532 C14.005 objectId:1622 3.4.22.59 HGNC:1507 "ENST00000265164.7|NM_001226.4" +HGNC:1508 CASP7 caspase 7 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "MCH3|CMH-1|ICE-LAP3" "caspase 7, apoptosis-related cysteine protease|caspase 7, apoptosis-related cysteine peptidase" Caspases 468 1996-07-22 2015-11-12 2023-01-20 840 ENSG00000165806 OTTHUMG00000019076 uc010qsa.4 U37448 NM_033338 "CCDS73200|CCDS7582|CCDS58096|CCDS7581|CCDS7580" P55210 "8521391|8576161" MGI:109383 RGD:620944 601761 C14.004 objectId:1623 3.4.22.60 HGNC:1508 "ENST00000369318.8|NM_001227.5" +HGNC:1509 CASP8 caspase 8 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "MCH5|MACH|FLICE|Casp-8" "caspase 8, apoptosis-related cysteine protease|caspase 8, apoptosis-related cysteine peptidase" "Caspases|Death effector domain containing|Ripoptosome|Death inducing signaling complex " "468|1019|1340|1342" 1996-11-11 2015-11-12 2023-03-15 841 ENSG00000064012 OTTHUMG00000132821 uc002uxt.2 U60520 NM_001228 "CCDS92923|CCDS92922|CCDS2345|CCDS2342|CCDS42798|CCDS42799|CCDS2343" Q14790 "8681376|8681377" MGI:1261423 RGD:620945 "CASP8base: Mutation registry for Caspase 8 deficiency|http://structure.bmc.lu.se/idbase/CASP8base/|LRG_34|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_34.xml" CASP8 601763 138851 C14.009 objectId:1624 3.4.22.61 HGNC:1509 "ENST00000673742.1|NM_001372051.1" HGNC:1509 HGNC:1510 CASP8AP2 caspase 8 associated protein 2 protein-coding gene gene with protein product Approved 6q15 06q15 "FLASH|CED-4|RIP25|FLJ11208|KIAA1315" FLICE-associated huge protein CASP8 associated protein 2 1999-12-10 2008-10-30 2014-11-19 9994 ENSG00000118412 OTTHUMG00000015212 uc063qcj.1 AB037736 NM_001137667 Q9UKL3 "10235259|17245429|17003126" MGI:1349399 RGD:1305771 606880 HGNC:1510 -HGNC:1511 CASP9 caspase 9 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "MCH6|ICE-LAP6|APAF-3|PPP1R56" protein phosphatase 1, regulatory subunit 56 "caspase 9, apoptosis-related cysteine protease|caspase 9, apoptosis-related cysteine peptidase" "Caspases|Protein phosphatase 1 regulatory subunits|Caspase recruitment domain containing|Apoptosome" "468|694|959|1341" 1996-11-11 2015-11-12 2023-01-20 842 ENSG00000132906 OTTHUMG00000002256 uc001awn.5 U60521 NM_032996 "CCDS59995|CCDS158|CCDS159" P55211 "8663294|9390557" MGI:1277950 RGD:61867 602234 C14.010 objectId:1625 3.4.22.62 HGNC:1511 "ENST00000333868.10|NM_001229.5" -HGNC:1500 CASP10 caspase 10 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "MCH4|FLICE-2" FAS-associated death domain protein interleukin-1B-converting enzyme 2 "caspase 10, apoptosis-related cysteine protease|caspase 10, apoptosis-related cysteine peptidase" "Caspases|Death effector domain containing|Death inducing signaling complex " "468|1019|1342" 1997-04-21 2015-11-12 2023-03-15 843 ENSG00000003400 OTTHUMG00000132818 uc002uxj.2 U60519 NM_032977 "CCDS56160|CCDS2338|CCDS2339|CCDS77506|CCDS2340|CCDS56159" Q92851 8755496 "CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)|http://structure.bmc.lu.se/idbase/CASP10base/|LRG_33|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_33.xml" 601762 119179 C14.011 objectId:1626 3.4.22.63 HGNC:1500 "ENST00000286186.11|NM_032977.4" HGNC:1500 +HGNC:1511 CASP9 caspase 9 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "MCH6|ICE-LAP6|APAF-3|PPP1R56" protein phosphatase 1, regulatory subunit 56 "caspase 9, apoptosis-related cysteine protease|caspase 9, apoptosis-related cysteine peptidase" "Caspases|Protein phosphatase 1 regulatory subunits|Caspase recruitment domain containing|Apoptosome" "468|694|959|1341" 1996-11-11 2015-11-12 2023-01-20 842 ENSG00000132906 OTTHUMG00000002256 uc001awn.5 U60521 NM_032996 "CCDS159|CCDS158|CCDS59995" P55211 "8663294|9390557" MGI:1277950 RGD:61867 602234 C14.010 objectId:1625 3.4.22.62 HGNC:1511 "ENST00000333868.10|NM_001229.5" +HGNC:1500 CASP10 caspase 10 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "MCH4|FLICE-2" FAS-associated death domain protein interleukin-1B-converting enzyme 2 "caspase 10, apoptosis-related cysteine protease|caspase 10, apoptosis-related cysteine peptidase" "Caspases|Death effector domain containing|Death inducing signaling complex " "468|1019|1342" 1997-04-21 2015-11-12 2023-03-15 843 ENSG00000003400 OTTHUMG00000132818 uc002uxj.2 U60519 NM_032977 "CCDS2340|CCDS2339|CCDS56159|CCDS56160|CCDS2338|CCDS77506" Q92851 8755496 "CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)|http://structure.bmc.lu.se/idbase/CASP10base/|LRG_33|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_33.xml" 601762 119179 C14.011 objectId:1626 3.4.22.63 HGNC:1500 "ENST00000286186.11|NM_032977.4" HGNC:1500 HGNC:19004 CASP12 caspase 12 (gene/pseudogene) protein-coding gene gene with protein product Approved 11q22.3 11q22.3 CASP12P1 "caspase 12 pseudogene 1|caspase 12" "Caspases|Caspase recruitment domain containing" "468|959" 2002-07-25 2006-02-17 2007-12-17 2023-03-15 100506742 ENSG00000204403 OTTHUMG00000154965 uc031ydr.1 AF464191 NM_001191016 Q6UXS9 "12054529|9038361|16917906|16532395" MGI:1312922 RGD:621758 608633 C14.P01 HGNC:19004 HGNC:1502 CASP14 caspase 14 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "MICE|MGC119078|MGC119079" apoptosis-related cysteine protease "caspase 14, apoptosis-related cysteine protease|caspase 14, apoptosis-related cysteine peptidase" Caspases 468 1998-11-09 2015-11-12 2023-01-20 23581 ENSG00000105141 OTTHUMG00000183205 uc010dzv.3 NM_012114 CCDS12323 P31944 "10203698|9792675|15301553" MGI:1335092 RGD:1311781 605848 C14.018 objectId:1627 3.4.22.- HGNC:1502 "ENST00000427043.4|NM_012114.3" HGNC:1502 HGNC:27290 CASP16P caspase 16, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 CASP16 caspase 16, apoptosis-related cysteine peptidase (putative) Caspases 468 2012-02-29 2015-07-13 2015-07-13 2017-08-16 197350 ENSG00000228146 OTTHUMG00000177520 NR_132322 18281271 MGI:3646305 RGD:1588238 HGNC:27290 HGNC:1512 CASQ1 calsequestrin 1 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "PDIB1|CSQ1" "calsequestrin 1, fast-twitch, skeletal muscle|calmitine" CASQ calsequestrin 1 (fast-twitch, skeletal muscle) Protein disulfide isomerases 692 1990-08-23 2015-11-30 2023-01-20 844 ENSG00000143318 OTTHUMG00000031607 uc010pja.3 S73775 NM_001231 CCDS1198 P31415 "8406504|2321095|33600773" MGI:1309468 RGD:1586677 114250 413011 HGNC:1512 "ENST00000368078.8|NM_001231.5" HGNC:1512 HGNC:1513 CASQ2 calsequestrin 2 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 PDIB2 calsequestrin 2 (cardiac muscle) Protein disulfide isomerases 692 1992-11-05 2015-11-30 2023-01-20 845 ENSG00000118729 OTTHUMG00000011970 uc001efx.5 BC022288 NM_001232 CCDS884 O14958 8406504 MGI:1309469 RGD:2276 LRG_404|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_404.xml 114251 119182 HGNC:1513 "ENST00000261448.6|NM_001232.4" HGNC:1513 HGNC:1514 CASR calcium sensing receptor protein-coding gene gene with protein product Approved 3q13.33-q21.1 03q13.33-q21.1 "FHH|NSHPT|GPRC2A" severe neonatal hyperparathyroidism "HHC|HHC1" "hypocalciuric hypercalcemia 1|calcium-sensing receptor" Calcium sensing receptors 279 1992-12-04 2016-01-26 2023-01-20 846 ENSG00000036828 OTTHUMG00000159491 uc003eev.5 U20760 NM_000388 "CCDS3010|CCDS54632" P41180 7677761 MGI:1351351 RGD:2277 CASRdb Calcium Sensing Receptor Locus Mutation Database|http://www.casrdb.mcgill.ca 601199 119185 objectId:54 HGNC:1514 "ENST00000639785.2|NM_000388.4" HGNC:1514 -HGNC:15878 CASS4 Cas scaffold protein family member 4 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "HEFL|HEPL" "HEF-like protein|HEF1-Efs-p130Cas-like" C20orf32 "chromosome 20 open reading frame 32|Cas scaffolding protein family member 4" Cas scaffold proteins 469 2001-06-21 2008-04-15 2018-03-01 2023-01-20 57091 ENSG00000087589 OTTHUMG00000032788 uc002xxp.3 AJ276678 NM_020356 "CCDS54475|CCDS93062|CCDS33492" Q9NQ75 "26119091|24962474" MGI:2444482 RGD:1310643 618888 HGNC:15878 "ENST00000679887.1|NM_020356.4" -HGNC:1515 CAST calpastatin protein-coding gene gene with protein product Approved 5q15 05q15 1990-07-03 2023-03-15 831 ENSG00000153113 OTTHUMG00000128413 uc003kmd.4 AF327443 NM_173062 "CCDS43344|CCDS54883|CCDS83017|CCDS93749|CCDS93750|CCDS75279|CCDS4082|CCDS54882" P20810 "8340353|14685690|15820218" MGI:1098236 RGD:2278 114090 448710 HGNC:1515 "ENST00000675179.1|NM_001750.7" HGNC:1515 +HGNC:15878 CASS4 Cas scaffold protein family member 4 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "HEFL|HEPL" "HEF-like protein|HEF1-Efs-p130Cas-like" C20orf32 "chromosome 20 open reading frame 32|Cas scaffolding protein family member 4" Cas scaffold proteins 469 2001-06-21 2008-04-15 2018-03-01 2023-01-20 57091 ENSG00000087589 OTTHUMG00000032788 uc002xxp.3 AJ276678 NM_020356 "CCDS93062|CCDS33492|CCDS54475" Q9NQ75 "26119091|24962474" MGI:2444482 RGD:1310643 618888 HGNC:15878 "ENST00000679887.1|NM_020356.4" +HGNC:1515 CAST calpastatin protein-coding gene gene with protein product Approved 5q15 05q15 1990-07-03 2023-03-15 831 ENSG00000153113 OTTHUMG00000128413 uc003kmd.4 AF327443 NM_173062 "CCDS93749|CCDS43344|CCDS4082|CCDS93750|CCDS54883|CCDS75279|CCDS83017|CCDS54882" P20810 "8340353|14685690|15820218" MGI:1098236 RGD:2278 114090 448710 HGNC:1515 "ENST00000675179.1|NM_001750.7" HGNC:1515 HGNC:34423 CASTOR1 cytosolic arginine sensor for mTORC1 subunit 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 GATSL3 "GATS protein-like 3|GATS protein like 3" 2009-04-08 2017-02-20 2017-02-20 2023-01-20 652968 ENSG00000239282 OTTHUMG00000150929 uc003ahd.4 NM_001037666 CCDS43001 Q8WTX7 26972053 MGI:1919212 RGD:1304774 617034 HGNC:34423 "ENST00000407689.8|NM_001037666.3" HGNC:37073 CASTOR2 cytosolic arginine sensor for mTORC1 subunit 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "GATSL1|GATSL2" "GATS protein-like 1|GATS protein like 2" 2009-04-08 2017-02-20 2017-02-20 2023-01-20 729438 ENSG00000274070 OTTHUMG00000181541 uc003ucg.4 BC147030 NM_001145064 CCDS75620 A6NHX0 26972053 MGI:1933384 RGD:1304672 617033 HGNC:37073 "ENST00000616305.2|NM_001145064.3" HGNC:29954 CASTOR3P CASTOR family member 3, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 "DKFZp686B07267|STAG3OS" stromal antigen 3 opposite strand "GATS|CASTOR3" "GATS, stromal antigen 3 opposite strand|CASTOR family member 3" 2009-02-05 2022-05-26 2022-05-26 2023-03-15 352954 ENSG00000239521 OTTHUMG00000155289 uc003uua.5 AK095056 NR_028039 Q8NAP1 12477932 MGI:1933384 HGNC:29954 -HGNC:26002 CASZ1 castor zinc finger 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FLJ20321|ZNF693|castor|cst|SRG" "zinc finger protein 693|survival related gene" castor homolog 1, zinc finger (Drosophila) Zinc fingers C2H2-type 28 2005-05-13 2007-02-02 2023-01-20 54897 ENSG00000130940 OTTHUMG00000002035 uc001aro.6 AK000328 NM_017766 "CCDS120|CCDS41246" Q86V15 "16631614|21252912" MGI:1196251 RGD:1563533 609895 HGNC:26002 "ENST00000377022.8|NM_001079843.3" +HGNC:26002 CASZ1 castor zinc finger 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FLJ20321|ZNF693|castor|cst|SRG" "zinc finger protein 693|survival related gene" castor homolog 1, zinc finger (Drosophila) Zinc fingers C2H2-type 28 2005-05-13 2007-02-02 2023-01-20 54897 ENSG00000130940 OTTHUMG00000002035 uc001aro.6 AK000328 NM_017766 "CCDS41246|CCDS120" Q86V15 "16631614|21252912" MGI:1196251 RGD:1563533 609895 HGNC:26002 "ENST00000377022.8|NM_001079843.3" HGNC:1516 CAT catalase protein-coding gene gene with protein product Approved 11p13 11p13 2001-06-22 2023-01-20 847 ENSG00000121691 OTTHUMG00000044353 uc001mvm.4 AY028632 NM_001752 CCDS7891 P04040 MGI:88271 RGD:2279 115500 119192 objectId:2979 1.11.1.6 HGNC:1516 "ENST00000241052.5|NM_001752.4" HGNC:1516 HGNC:25062 CATIP ciliogenesis associated TTC17 interacting protein protein-coding gene gene with protein product Approved 2q35 02q35 MGC50811 C2orf62 chromosome 2 open reading frame 62 2007-07-10 2014-02-06 2014-02-06 2023-01-20 375307 ENSG00000158428 OTTHUMG00000133106 BC052750 NM_198559 CCDS2414 Q7Z7H3 "24475127|32503832" MGI:2685062 RGD:1596071 619387 HGNC:25062 "ENST00000289388.4|NM_198559.2" HGNC:41080 CATIP-AS1 CATIP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2014-02-06 2022-07-13 101928513 ENSG00000225062 OTTHUMG00000155067 BC038211 NR_110573 35264071 CATIP-AS1 HGNC:41080 HGNC:41079 CATIP-AS2 CATIP antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2014-02-06 2014-11-19 103689911 ENSG00000237281 OTTHUMG00000155145 CD672221 NR_125777 CATIP-AS2 HGNC:41079 HGNC:1525 CATR1 CATR tumorigenicity conversion 1 other unknown Approved 7q32 07q32 1995-11-14 2019-03-06 856 U25433 Q13166 7604004 600676 HGNC:17116 CATSPER1 cation channel sperm associated 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 CATSPER cation channel, sperm associated 1 Cation channels sperm associated 186 2002-06-20 2016-02-04 2023-01-20 117144 ENSG00000175294 OTTHUMG00000166668 uc001ogt.3 AF407333 NM_053054 CCDS8127 Q8NEC5 "11675491|11595941|16382101" MGI:2179947 RGD:1593515 606389 279661 objectId:388 HGNC:17116 "ENST00000312106.6|NM_053054.4" HGNC:17116 -HGNC:18810 CATSPER2 cation channel sperm associated 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 cation channel, sperm associated 2 Cation channels sperm associated 186 2002-06-20 2016-02-04 2023-04-19 117155 ENSG00000166762 OTTHUMG00000059902 uc001zsh.5 AF411817 NM_172095 "CCDS32216|CCDS73714|CCDS10099" Q96P56 "11675491|16382101" MGI:2387404 RGD:1307620 607249 159339 objectId:389 HGNC:18810 "ENST00000396879.8|NM_172095.4" +HGNC:18810 CATSPER2 cation channel sperm associated 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 cation channel, sperm associated 2 Cation channels sperm associated 186 2002-06-20 2016-02-04 2023-04-19 117155 ENSG00000166762 OTTHUMG00000059902 uc001zsh.5 AF411817 NM_172095 "CCDS73714|CCDS32216|CCDS10099" Q96P56 "11675491|16382101" MGI:2387404 RGD:1307620 607249 159339 objectId:389 HGNC:18810 "ENST00000396879.8|NM_172095.4" HGNC:31054 CATSPER2P1 CATSPER2 pseudogene 1 pseudogene pseudogene Approved 15q15.3 15q15.3 CATSPER2B "cation channel, sperm associated 2 pseudogene 1|cation channel sperm associated 2 pseudogene 1" 2006-02-10 2023-05-03 2023-05-03 440278 ENSG00000205771 OTTHUMG00000059938 BC066967 NR_002318 PGOHUM00000246770 HGNC:31054 HGNC:56816 CATSPER2P2 CATSPER2 pseudogene 2 pseudogene pseudogene Approved 5q23.1 05q23.1 2023-05-03 2023-05-03 100127986 ENSG00000250928 NG_009804 PGOHUM00000301100 HGNC:20819 CATSPER3 cation channel sperm associated 3 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 CACRC cation channel, sperm associated 3 Cation channels sperm associated 186 2003-10-17 2016-02-04 2023-01-20 347732 ENSG00000152705 OTTHUMG00000129137 uc003lag.3 AF432876 NM_178019 CCDS4181 Q86XQ3 "12646162|12932298|17227845|16382101" MGI:1924106 RGD:1305700 609120 objectId:390 HGNC:20819 "ENST00000282611.8|NM_178019.3" @@ -3466,10 +3466,10 @@ HGNC:23220 CATSPER4 cation channel sperm associated 4 protein-coding gene gene w HGNC:20500 CATSPERB cation channel sperm associated auxiliary subunit beta protein-coding gene gene with protein product Approved 14q32.12 14q32.12 FLJ14298 C14orf161 "chromosome 14 open reading frame 161|cation channel, sperm-associated, beta|catsper channel auxiliary subunit beta" Cation channels sperm associated 186 2003-10-02 2007-10-18 2016-02-04 2023-01-20 79820 ENSG00000133962 OTTHUMG00000171118 uc001xzs.2 AK024360 NM_024764 CCDS32142 Q9H7T0 17478420 MGI:2443988 RGD:6500065 611169 objectId:2326 HGNC:20500 "ENST00000256343.8|NM_024764.4" HGNC:28598 CATSPERD cation channel sperm associated auxiliary subunit delta protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC39581 TMEM146 "transmembrane protein 146|catsper channel auxiliary subunit delta" Cation channels sperm associated 186 2006-03-30 2012-02-22 2016-02-04 2023-01-20 257062 ENSG00000174898 OTTHUMG00000143036 uc002mda.4 BC043005 NM_152784 CCDS12149 Q86XM0 21224844 MGI:2147030 RGD:1594167 617490 HGNC:28598 "ENST00000381624.4|NM_152784.4" HGNC:28491 CATSPERE catsper channel auxiliary subunit epsilon protein-coding gene gene with protein product Approved 1q44 01q44 MGC33370 C1orf101 chromosome 1 open reading frame 101 Cation channels sperm associated 186 2005-05-31 2017-03-03 2017-03-03 2023-01-20 257044 ENSG00000179397 OTTHUMG00000040103 uc001ial.4 BC032859 NM_173807 "CCDS44340|CCDS1625|CCDS55693" Q5SY80 28226241 MGI:3647531 RGD:1565309 617510 HGNC:28491 "ENST00000366534.9|NM_001130957.2" -HGNC:25243 CATSPERG cation channel sperm associated auxiliary subunit gamma protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "DKFZp434A1022|FLJ46353" C19orf15 "chromosome 19 open reading frame 15|cation channel, sperm-associated, gamma|catsper channel auxiliary subunit gamma" Cation channels sperm associated 186 2004-02-11 2009-07-17 2016-02-04 2023-01-20 57828 ENSG00000099338 OTTHUMG00000153223 uc002oih.5 AK128220 NM_021185 "CCDS82346|CCDS12514" Q6ZRH7 19516020 "MGI:1923968|MGI:2443617" RGD:1310942 613452 470038 HGNC:25243 "ENST00000409235.8|NM_021185.5" +HGNC:25243 CATSPERG cation channel sperm associated auxiliary subunit gamma protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "DKFZp434A1022|FLJ46353" C19orf15 "chromosome 19 open reading frame 15|cation channel, sperm-associated, gamma|catsper channel auxiliary subunit gamma" Cation channels sperm associated 186 2004-02-11 2009-07-17 2016-02-04 2023-01-20 57828 ENSG00000099338 OTTHUMG00000153223 uc002oih.5 AK128220 NM_021185 "CCDS12514|CCDS82346" Q6ZRH7 19516020 "MGI:1923968|MGI:2443617" RGD:1310942 613452 470038 HGNC:25243 "ENST00000409235.8|NM_021185.5" HGNC:19231 CATSPERZ catsper channel auxiliary subunit zeta protein-coding gene gene with protein product Approved 11q13.1 11q13.1 DKFZP566E164 "C11orf20|TEX40" "chromosome 11 open reading frame 20|testis expressed 40" Cation channels sperm associated 186 2008-12-09 2017-03-03 2017-03-03 2023-03-15 25858 ENSG00000219435 OTTHUMG00000167820 uc058cwu.1 NM_001039496 Q9NTU4 28226241 MGI:1914327 RGD:2318763 617511 HGNC:19231 "ENST00000328404.8|NM_001039496.2" -HGNC:1527 CAV1 caveolin 1 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 CAV "caveolin 1, caveolae protein, 22kD|caveolin 1, caveolae protein, 22kDa" Caveolins 1942 1993-11-02 2015-11-09 2023-01-20 857 ENSG00000105974 OTTHUMG00000023413 uc003vif.3 AF125348 NM_001753 "CCDS5767|CCDS55156" Q03135 10087206 MGI:102709 RGD:2280 601047 171064 HGNC:1527 "ENST00000341049.7|NM_001753.5" HGNC:1527 -HGNC:1528 CAV2 caveolin 2 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 CAV Caveolins 1942 1998-03-02 2023-01-20 858 ENSG00000105971 OTTHUMG00000023414 uc003vid.4 AF035752 NM_001233 "CCDS5765|CCDS5766" P51636 "8552590|10087206" MGI:107571 RGD:620348 601048 HGNC:1528 "ENST00000222693.5|NM_001233.5" +HGNC:1527 CAV1 caveolin 1 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 CAV "caveolin 1, caveolae protein, 22kD|caveolin 1, caveolae protein, 22kDa" Caveolins 1942 1993-11-02 2015-11-09 2023-01-20 857 ENSG00000105974 OTTHUMG00000023413 uc003vif.3 AF125348 NM_001753 "CCDS55156|CCDS5767" Q03135 10087206 MGI:102709 RGD:2280 601047 171064 HGNC:1527 "ENST00000341049.7|NM_001753.5" HGNC:1527 +HGNC:1528 CAV2 caveolin 2 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 CAV Caveolins 1942 1998-03-02 2023-01-20 858 ENSG00000105971 OTTHUMG00000023414 uc003vid.4 AF035752 NM_001233 "CCDS5766|CCDS5765" P51636 "8552590|10087206" MGI:107571 RGD:620348 601048 HGNC:1528 "ENST00000222693.5|NM_001233.5" HGNC:1529 CAV3 caveolin 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "VIP-21|LGMD1C|VIP21|LQT9" M-caveolin Caveolins 1942 1998-05-14 2023-01-20 859 ENSG00000182533 OTTHUMG00000090519 uc003brb.3 AF043101 NM_033337 CCDS2569 P56539 "9536092|9537420" MGI:107570 RGD:2281 "Limb-Girdle Muscular Dystrophy type 1C|http://www.LOVD.nl/CAV3|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=CAV3|CAV3 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=CAV3|LRG_329|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_329.xml" 601253 119194 HGNC:1529 "ENST00000343849.3|NM_033337.3" HGNC:1529 HGNC:9688 CAVIN1 caveolae associated protein 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "cavin-1|CGL4" congenital generalized lipodystrophy 4 PTRF polymerase I and transcript release factor Cavins 1326 1998-09-21 2017-03-24 2017-03-24 2023-01-20 284119 ENSG00000177469 OTTHUMG00000180137 uc002hzo.4 AF000421 NM_012232 CCDS11425 Q6NZI2 9582279 MGI:1277968 RGD:1307685 Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=PTRF 603198 227086 HGNC:9688 "ENST00000357037.6|NM_012232.6" HGNC:9688 HGNC:10690 CAVIN2 caveolae associated protein 2 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "SDR|PS-p68|cavin-2" phosphatidylserine binding protein SDPR "serum deprivation response (phosphatidylserine-binding protein)|serum deprivation response (phosphatidylserine binding protein)|serum deprivation response" Cavins 1326 1998-10-30 2017-03-24 2017-03-24 2023-01-20 8436 ENSG00000168497 OTTHUMG00000154309 uc002utb.4 AF085481 NM_004657 CCDS2313 O95810 "10191091|8241023" MGI:99513 RGD:1359345 606728 HGNC:10690 "ENST00000304141.5|NM_004657.6" @@ -3480,12 +3480,12 @@ HGNC:28617 CBARP CACN subunit beta associated regulatory protein protein-coding HGNC:55285 CBARP-DT CBARP divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Divergent transcripts 1990 2020-10-14 2020-10-14 118827813 ENSG00000267778 XR_007067081 HGNC:1536 CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 protein-coding gene gene with protein product Approved 20q11.21-q11.22 20q11.21-q11.22 "MTGR1|ZMYND3" "core-binding factor, runt domain, alpha subunit 2; translocated to, 2|CBFA2/RUNX1 translocation partner 2" Zinc fingers MYND-type 87 1999-05-07 2019-05-16 2023-03-15 9139 ENSG00000078699 OTTHUMG00000032261 uc002wze.2 AF052210 NM_001032999 "CCDS46590|CCDS13221" O43439 9790752 MGI:1333833 RGD:1309088 603672 HGNC:1536 "ENST00000342704.11|NM_001032999.3" HGNC:1537 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "MTGR2|ZMYND4|MTG16|RUNX1T3|ETO2" myeloid translocation gene 8 and 16b "core-binding factor, runt domain, alpha subunit 2; translocated to, 3|CBFA2/RUNX1 translocation partner 3" "Zinc fingers MYND-type|A-kinase anchoring proteins" "87|396" 1998-08-13 2019-05-17 2023-01-20 863 ENSG00000129993 OTTHUMG00000137864 uc002fmm.3 AF052213 NM_005187 "CCDS10972|CCDS10973" O75081 "9790752|20150326" MGI:1338013 RGD:1310547 CBFA2T3 603870 331749 HGNC:1537 "ENST00000268679.9|NM_005187.6" -HGNC:1539 CBFB core-binding factor subunit beta protein-coding gene gene with protein product Approved 16q22.1 16q22.1 PEBP2B "core-binding factor, beta subunit|core-binding factor beta subunit" 1993-12-07 2018-04-23 2023-01-20 865 ENSG00000067955 OTTHUMG00000137520 uc002era.4 BC018509 NM_001755 "CCDS10827|CCDS45508" Q13951 "8351518|7587111" MGI:99851 RGD:620493 LRG_1364|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1364.xml CBFB 121360 171659 HGNC:1539 "ENST00000412916.7|NM_022845.3" +HGNC:1539 CBFB core-binding factor subunit beta protein-coding gene gene with protein product Approved 16q22.1 16q22.1 PEBP2B "core-binding factor, beta subunit|core-binding factor beta subunit" 1993-12-07 2018-04-23 2023-01-20 865 ENSG00000067955 OTTHUMG00000137520 uc002era.4 BC018509 NM_001755 "CCDS45508|CCDS10827" Q13951 "8351518|7587111" MGI:99851 RGD:620493 LRG_1364|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1364.xml CBFB 121360 171659 HGNC:1539 "ENST00000412916.7|NM_022845.3" HGNC:1541 CBL Cbl proto-oncogene protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "RNF55|c-Cbl" oncogene CBL2 CBL2 "Cas-Br-M (murine) ecotropic retroviral transforming sequence|Cbl proto-oncogene, E3 ubiquitin protein ligase" Ring finger proteins 58 1989-06-30 2016-04-26 2023-01-20 867 ENSG00000110395 OTTHUMG00000166170 uc001pwe.6 X57110 NM_005188 CCDS8418 P22681 2013228 MGI:88279 RGD:1561386 LRG_608|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_608.xml CBL 165360 242915 HGNC:1541 "ENST00000264033.6|NM_005188.4" HGNC:1541 HGNC:1542 CBLB Cbl proto-oncogene B protein-coding gene gene with protein product Approved 3q13.11 03q13.11 "RNF56|Cbl-b" "Cas-Br-M (murine) ectropic retroviral transforming sequence b|Cas-Br-M (murine) ecotropic retroviral transforming sequence b|Cbl proto-oncogene B, E3 ubiquitin protein ligase" Ring finger proteins 58 1995-12-18 2016-04-26 2023-03-15 868 ENSG00000114423 OTTHUMG00000150654 uc003dwc.4 U26710 NM_170662 CCDS2948 Q13191 7784085 MGI:2146430 RGD:620535 LRG_1179|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1179.xml CBLB 604491 HGNC:1542 "ENST00000394030.8|NM_170662.5" HGNC:15961 CBLC Cbl proto-oncogene C protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "CBL-3|CBL-SL|RNF57" "Cas-Br-M (murine) ectropic retroviral transforming sequence c|Cas-Br-M (murine) ecotropic retroviral transforming sequence c|Cbl proto-oncogene C, E3 ubiquitin protein ligase" Ring finger proteins 58 2001-06-25 2016-04-26 2023-01-20 23624 ENSG00000142273 OTTHUMG00000150715 uc002ozs.4 AB028645 NM_012116 "CCDS46109|CCDS12643" Q9ULV8 "10362357|10571044" MGI:1931457 RGD:1307651 LRG_1161|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1161.xml CBLC 608453 HGNC:15961 "ENST00000647358.2|NM_012116.4" HGNC:4268 CBLIF cobalamin binding intrinsic factor protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "TCN3|IF|IFMH|INF" GIF "gastric intrinsic factor (vitamin B synthesis)|gastric intrinsic factor" 1989-06-30 2018-10-17 2018-10-17 2023-01-20 2694 ENSG00000134812 OTTHUMG00000167399 uc001noi.4 X76562 NM_005142 CCDS7977 P27352 2071148 MGI:1202394 RGD:62084 609342 122099 HGNC:4268 "ENST00000257248.3|NM_005142.3" HGNC:4268 -HGNC:21225 CBLL1 Cbl proto-oncogene like 1 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "HAKAI|FLJ23109|RNF188" Casitas B-lineage lymphoma-like "Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1|Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase|Cbl proto-oncogene like 1, E3 ubiquitin protein ligase" "Ring finger proteins|WTAP complex" "58|1420" 2003-07-21 2016-04-26 2023-01-20 79872 ENSG00000105879 OTTHUMG00000154809 uc003veq.4 AK026762 NM_024814 "CCDS5747|CCDS64754" Q75N03 "11836526|11944035" MGI:2144842 RGD:1310703 606872 HGNC:21225 "ENST00000440859.8|NM_024814.4" +HGNC:21225 CBLL1 Cbl proto-oncogene like 1 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "HAKAI|FLJ23109|RNF188" Casitas B-lineage lymphoma-like "Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1|Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase|Cbl proto-oncogene like 1, E3 ubiquitin protein ligase" "Ring finger proteins|WTAP complex" "58|1420" 2003-07-21 2016-04-26 2023-01-20 79872 ENSG00000105879 OTTHUMG00000154809 uc003veq.4 AK026762 NM_024814 "CCDS64754|CCDS5747" Q75N03 "11836526|11944035" MGI:2144842 RGD:1310703 606872 HGNC:21225 "ENST00000440859.8|NM_024814.4" HGNC:55571 CBLL1-AS1 CBLL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 Antisense RNAs 1987 2021-04-21 2021-04-21 101927974 ENSG00000241764 NR_144537 HGNC:55074 CBLL1P1 CBLL1 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 2020-06-12 2020-11-11 100128122 ENSG00000233433 NG_022634 PGOHUM00000304827 HGNC:26371 CBLL2 Cbl proto-oncogene like 2 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "FLJ25735|HAKAIL|CT138" ZNF645 zinc finger protein 645 Ring finger proteins 58 2004-11-16 2018-01-19 2018-01-19 2023-01-20 158506 ENSG00000175809 OTTHUMG00000021242 uc004dai.4 AK098601 NM_152577 CCDS14205 Q8N7E2 20657603 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF645 HGNC:26371 "ENST00000323684.4|NM_152577.4" @@ -3493,12 +3493,12 @@ HGNC:1543 CBLN1 cerebellin 1 precursor protein-coding gene gene with protein pro HGNC:1544 CBLN2 cerebellin 2 precursor protein-coding gene gene with protein product Approved 18q22.3 18q22.3 C1q domain containing 1641 1995-03-06 2023-01-20 147381 ENSG00000141668 OTTHUMG00000132825 uc002lkv.3 BC035789 NM_182511 CCDS11999 Q8IUK8 7877445 MGI:88282 RGD:1309715 600433 HGNC:1544 "ENST00000269503.9|NM_182511.4" HGNC:20146 CBLN3 cerebellin 3 precursor protein-coding gene gene with protein product Approved 14q12 14q12 C1q domain containing 1641 2002-12-18 2023-01-20 643866 ENSG00000139899 OTTHUMG00000171315 uc001wpg.5 AY359070 NM_001039771 CCDS32057 Q6UW01 12975309 MGI:1889286 RGD:1563731 612978 HGNC:20146 "ENST00000267406.11|NM_001039771.3" HGNC:16231 CBLN4 cerebellin 4 precursor protein-coding gene gene with protein product Approved 20q13.2 20q13.2 dJ885A10.1 CBLNL1 cerebellin precursor-like 1 C1q domain containing 1641 2001-07-17 2004-08-19 2004-08-19 2023-01-20 140689 ENSG00000054803 OTTHUMG00000032782 uc002xxa.5 AY358527 NM_080617 CCDS13448 Q9NTU7 MGI:2154433 RGD:1589642 615029 HGNC:16231 "ENST00000064571.3|NM_080617.6" -HGNC:1548 CBR1 carbonyl reductase 1 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 SDR21C1 short chain dehydrogenase/reductase family 21C, member 1 CBR Short chain dehydrogenase/reductase superfamily 743 1991-02-20 2023-01-20 873 ENSG00000159228 OTTHUMG00000086618 uc002yvb.3 NM_001286789 "CCDS13641|CCDS68202" P16152 "8432528|19027726" MGI:88284 RGD:2286 114830 objectId:1383 1.1.1.184 HGNC:1548 "ENST00000290349.11|NM_001757.4" +HGNC:1548 CBR1 carbonyl reductase 1 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 SDR21C1 short chain dehydrogenase/reductase family 21C, member 1 CBR Short chain dehydrogenase/reductase superfamily 743 1991-02-20 2023-01-20 873 ENSG00000159228 OTTHUMG00000086618 uc002yvb.3 NM_001286789 "CCDS68202|CCDS13641" P16152 "8432528|19027726" MGI:88284 RGD:2286 114830 objectId:1383 1.1.1.184 HGNC:1548 "ENST00000290349.11|NM_001757.4" HGNC:55777 CBR1-AS1 CBR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 Antisense RNAs 1987 2021-07-23 2021-07-23 100133286 ENSG00000230212 NR_040084 HGNC:1549 CBR3 carbonyl reductase 3 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 SDR21C2 short chain dehydrogenase/reductase family 21C, member 2 Short chain dehydrogenase/reductase superfamily 743 1998-01-16 2023-01-20 874 ENSG00000159231 OTTHUMG00000086617 uc002yve.4 AB004854 NM_001236 CCDS13642 O75828 "9740676|19027726" MGI:1309992 RGD:1309728 603608 1.1.1.184 HGNC:1549 "ENST00000290354.6|NM_001236.4" HGNC:43664 CBR3-AS1 CBR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 PlncRNA-1 prostate cancer-up-regulated long noncoding RNA 1 CBR3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-08 2012-08-15 2017-08-30 100506428 ENSG00000236830 OTTHUMG00000086607 uc061zxr.1 BC038671 NR_038892 "22264502|24337686|28835319" CBR3-AS1 HGNC:43664 HGNC:25891 CBR4 carbonyl reductase 4 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "FLJ14431|SDR45C1" short chain dehydrogenase/reductase family 45C, member 1 Short chain dehydrogenase/reductase superfamily 743 2006-03-21 2023-01-20 84869 ENSG00000145439 OTTHUMG00000161025 uc003iry.4 BC021973 NM_032783 CCDS3812 Q8N4T8 19027726 MGI:2384567 RGD:727826 619394 1.1.1.- HGNC:25891 "ENST00000306193.8|NM_032783.5" -HGNC:55540 CBR4-DT CBR4 divergent transcript non-coding RNA RNA, long non-coding Approved 4q32.3 04q32.3 Divergent transcripts 1990 2021-03-24 2021-03-24 121009646 ENSG00000251445 +HGNC:55540 CBR4-DT CBR4 divergent transcript non-coding RNA RNA, long non-coding Approved 4q32.3 04q32.3 Divergent transcripts 1990 2021-03-24 2021-03-24 121009646 ENSG00000251445 NR_185919 HGNC:1550 CBS cystathionine beta-synthase protein-coding gene gene with protein product Approved 21q22.3 21q22.3 HIP4 cystathionine-beta-synthase 2001-06-22 2019-07-05 2023-01-20 875 ENSG00000160200 OTTHUMG00000086834 uc002zcv.3 L14577 NM_000071 CCDS13693 P35520 9790750 MGI:88285 RGD:2287 "Cystathionine beta-synthase database|http://cbs.lf1.cuni.cz/index.php|LRG_777|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_777.xml" 613381 119199 objectId:1443 4.2.1.22 HGNC:1550 "ENST00000398165.8|NM_000071.3" HGNC:1550 HGNC:55459 CBSLR CBS mRNA stabilizing lncRNA non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 TCONS_00001221 Long non-coding RNAs with non-systematic symbols 1992 2022-08-19 2022-08-19 124904470 XR_007066771 35499052 HGNC:1551 CBX1 chromobox 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HP1Hs-beta|M31|MOD1|CBX|HP1-BETA" HP1 beta homolog (Drosophila ) "chromobox homolog 1 (Drosophila HP1 beta)|chromobox homolog 1" Chromobox family 976 1999-10-12 2015-11-24 2023-01-20 10951 ENSG00000108468 OTTHUMG00000150417 uc002ine.4 U35451 NM_006807 CCDS11525 P83916 9169582 MGI:105369 RGD:1310714 604511 HGNC:1551 "ENST00000225603.9|NM_001127228.2" @@ -3523,17 +3523,17 @@ HGNC:1554 CBX4 chromobox 4 protein-coding gene gene with protein product Approve HGNC:1555 CBX5 chromobox 5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HP1Hs-alpha|HP1|HP1-ALPHA" HP1 alpha homolog (Drosophila) "chromobox homolog 5 (Drosophila HP1 alpha)|chromobox homolog 5 (HP1 alpha homolog, Drosophila)|chromobox homolog 5" "Chromobox family|MicroRNA protein coding host genes" "976|1691" 1999-10-12 2015-11-24 2023-01-20 23468 ENSG00000094916 OTTHUMG00000169700 uc001sfk.6 U26311 NM_012117 CCDS8875 P45973 8663349 MGI:109372 RGD:1306619 604478 HGNC:1555 "ENST00000209875.9|NM_012117.3" HGNC:38659 CBX5P1 chromobox 5 pseudogene 1 pseudogene pseudogene Approved 3p11.1 03p11.1 chromobox homolog 5 pseudogene 1 2010-07-06 2015-11-24 2015-11-24 100151661 ENSG00000241535 OTTHUMG00000159062 NG_007668 PGOHUM00000237674 HGNC:38659 HGNC:1556 CBX6 chromobox 6 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 chromobox homolog 6 Chromobox family 976 1999-10-13 2015-11-24 2023-01-20 23466 ENSG00000183741 OTTHUMG00000150456 uc003awl.4 NM_014292 "CCDS77675|CCDS13980" O95503 MGI:3512628 RGD:1307314 617438 HGNC:1556 "ENST00000407418.8|NM_014292.5" -HGNC:1557 CBX7 chromobox 7 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 chromobox homolog 7 Chromobox family 976 1999-10-13 2015-11-24 2023-01-20 23492 ENSG00000100307 OTTHUMG00000150418 uc003axb.4 NM_175709 "CCDS87028|CCDS13986" O95931 MGI:1196439 RGD:735027 608457 HGNC:1557 "ENST00000216133.10|NM_175709.5" +HGNC:1557 CBX7 chromobox 7 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 chromobox homolog 7 Chromobox family 976 1999-10-13 2015-11-24 2023-01-20 23492 ENSG00000100307 OTTHUMG00000150418 uc003axb.4 NM_175709 "CCDS13986|CCDS87028" O95931 MGI:1196439 RGD:735027 608457 HGNC:1557 "ENST00000216133.10|NM_175709.5" HGNC:15962 CBX8 chromobox 8 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "RC1|HPC3|PC3" "polycomb 3|Pc class 3 homolog (Drosophila)" "chromobox homolog 8 (Drosophila Pc class)|chromobox homolog 8" Chromobox family 976 2001-06-25 2015-11-24 2023-01-20 57332 ENSG00000141570 OTTHUMG00000150416 uc002jxd.3 AF174482 NM_020649 CCDS11765 Q9HC52 10825164 MGI:1353589 RGD:1565375 617354 HGNC:15962 "ENST00000269385.9|NM_020649.3" HGNC:15962 HGNC:1307 CBY1 chibby family member 1, beta catenin antagonist protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "PIGEA14|PIGEA-14|Chibby|Cby|Chibby1" chibby CTNNB1-mediated transcription inhibitor "C22orf2|PGEA1" "chromosome 22 open reading frame 2|PKD2 interactor, golgi and endoplasmic reticulum associated 1|chibby homolog 1 (Drosophila)" 2000-03-29 2007-01-26 2016-06-07 2023-03-02 25776 ENSG00000100211 OTTHUMG00000150990 uc003awc.5 BK005534 NM_015373 CCDS13974 Q9Y3M2 "12712206|15194699" MGI:1920989 RGD:708481 607757 HGNC:1307 "ENST00000216029.8|NM_015373.4" HGNC:1307 HGNC:54769 CBY1P1 CBY1 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 2020-01-08 2020-01-21 100131562 ENSG00000236832 NG_030140 -HGNC:30720 CBY2 chibby family member 2 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 NURIT "spermatid flower-like structure protein|testis specific leucine zipper protein nurit|chibby homolog 2 (Drosophila)" SPERT spermatid associated 2006-03-14 2019-08-05 2019-08-05 2023-03-02 220082 ENSG00000174015 OTTHUMG00000016861 uc001van.3 AK093129 NM_152719 "CCDS9399|CCDS66540" Q8NA61 "12204287|20096028|28560031" MGI:1915176 RGD:1561044 618614 HGNC:30720 "ENST00000310521.6|NM_152719.3" +HGNC:30720 CBY2 chibby family member 2 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 NURIT "spermatid flower-like structure protein|testis specific leucine zipper protein nurit|chibby homolog 2 (Drosophila)" SPERT spermatid associated 2006-03-14 2019-08-05 2019-08-05 2023-03-02 220082 ENSG00000174015 OTTHUMG00000016861 uc001van.3 AK093129 NM_152719 "CCDS66540|CCDS9399" Q8NA61 "12204287|20096028|28560031" MGI:1915176 RGD:1561044 618614 HGNC:30720 "ENST00000310521.6|NM_152719.3" HGNC:33278 CBY3 chibby family member 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 chibby homolog 3 (Drosophila) 2007-01-29 2016-06-07 2023-03-02 646019 ENSG00000204659 OTTHUMG00000163163 uc021yjf.2 NM_001164444 CCDS47354 A6NI87 MGI:1923903 RGD:1594715 HGNC:33278 "ENST00000376974.5|NM_001164444.2" HGNC:30237 CC2D1A coiled-coil and C2 domain containing 1A protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "FLJ20241|MRT3|Freud-1|Lgd2|TAPE|Aki-1" "mental retardation, nonsyndromic, autosomal recessive, 3|Five prime repressor element under dual repression-binding protein 1|lethal (2) giant discs homolog 2|TBK1-associated protein in endolysosomes|Akt Kinase-Interacting Protein 1" C2 domain containing 823 2005-07-05 2023-01-20 54862 ENSG00000132024 OTTHUMG00000181852 uc002mxo.3 AF536205 NM_017721 "CCDS42512|CCDS92537" Q6P1N0 "12917378|16033914|18662999|21189260" MGI:2384831 RGD:1306108 610055 119202 HGNC:30237 "ENST00000318003.11|NM_017721.5" HGNC:30237 HGNC:29386 CC2D1B coiled-coil and C2 domain containing 1B protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "KIAA1836|Freud-2|Lgd1" "Five prime repressor element under dual repression-binding protein 2|lethal (2) giant discs homolog 1" C2 domain containing 823 2005-07-05 2023-01-20 200014 ENSG00000154222 OTTHUMG00000008102 uc001ctq.3 AB058739 NM_032449 "CCDS81323|CCDS30714" Q5T0F9 "11347906|17394259" MGI:2443076 RGD:1306630 HGNC:29386 "ENST00000284376.8|NM_001330585.2" -HGNC:29253 CC2D2A coiled-coil and C2 domain containing 2A protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "KIAA1345|MKS6|JBTS9" Meckel syndrome, type 6 MKS complex 1545 2007-10-19 2007-10-19 2023-01-20 57545 ENSG00000048342 OTTHUMG00000160255 uc062vgy.1 "AB037766|EU450799" NM_001080522 "CCDS93481|CCDS47027|CCDS47026|CCDS54744" Q9P2K1 "10718198|18513680" MGI:1924487 RGD:1561042 LRG_697|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_697.xml 612013 159539 HGNC:29253 "ENST00000424120.6|NM_001378615.1" HGNC:29253 -HGNC:31666 CC2D2B coiled-coil and C2 domain containing 2B protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "bA248J23.4|bA690P14.3" "C10orf130|C10orf131" "chromosome 10 open reading frame 130|chromosome 10 open reading frame 131" 2004-05-27 2007-10-19 2007-10-19 2023-01-20 387707 ENSG00000188649 OTTHUMG00000191767 uc001kll.4 BC075861 NM_001349008 "CCDS53560|CCDS58090|CCDS41555|CCDS91310" Q6DHV5 MGI:3645359 RGD:1310408 HGNC:31666 "ENST00000646931.3|NM_001349008.3" -HGNC:24236 CCAR1 cell division cycle and apoptosis regulator 1 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "FLJ10590|CARP-1|CARP1" "Spliceosomal A complex|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1504|1691|1835" 2004-02-19 2023-01-20 55749 ENSG00000060339 OTTHUMG00000018361 uc001joo.5 AY249140 NM_018237 "CCDS60547|CCDS7282" Q8IX12 12816952 MGI:1914750 RGD:1560358 612569 HGNC:24236 "ENST00000265872.11|NM_018237.4" +HGNC:29253 CC2D2A coiled-coil and C2 domain containing 2A protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "KIAA1345|MKS6|JBTS9" Meckel syndrome, type 6 MKS complex 1545 2007-10-19 2007-10-19 2023-01-20 57545 ENSG00000048342 OTTHUMG00000160255 uc062vgy.1 "AB037766|EU450799" NM_001080522 "CCDS47027|CCDS54744|CCDS93481|CCDS47026" Q9P2K1 "10718198|18513680" MGI:1924487 RGD:1561042 LRG_697|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_697.xml 612013 159539 HGNC:29253 "ENST00000424120.6|NM_001378615.1" HGNC:29253 +HGNC:31666 CC2D2B coiled-coil and C2 domain containing 2B protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "bA248J23.4|bA690P14.3" "C10orf130|C10orf131" "chromosome 10 open reading frame 130|chromosome 10 open reading frame 131" 2004-05-27 2007-10-19 2007-10-19 2023-01-20 387707 ENSG00000188649 OTTHUMG00000191767 uc001kll.4 BC075861 NM_001349008 "CCDS58090|CCDS53560|CCDS91310|CCDS41555" Q6DHV5 MGI:3645359 RGD:1310408 HGNC:31666 "ENST00000646931.3|NM_001349008.3" +HGNC:24236 CCAR1 cell division cycle and apoptosis regulator 1 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "FLJ10590|CARP-1|CARP1" "Spliceosomal A complex|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1504|1691|1835" 2004-02-19 2023-01-20 55749 ENSG00000060339 OTTHUMG00000018361 uc001joo.5 AY249140 NM_018237 "CCDS7282|CCDS60547" Q8IX12 12816952 MGI:1914750 RGD:1560358 612569 HGNC:24236 "ENST00000265872.11|NM_018237.4" HGNC:23360 CCAR2 cell cycle and apoptosis regulator 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DBC-1|DBC1|NET35" deleted in breast cancer 1 KIAA1967 KIAA1967 2004-11-08 2013-08-22 2013-08-22 2023-01-20 57805 ENSG00000158941 OTTHUMG00000162249 AL834351 NM_021174 CCDS34863 Q8N163 12370419 MGI:2444228 RGD:1309922 607359 HGNC:23360 "ENST00000308511.9|NM_001393997.1" HGNC:45128 CCAT1 colon cancer associated transcript 1 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "CARLo-5|onco-lncRNA-40" colon cancer associated transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-02-14 2018-05-16 2020-01-22 100507056 OTTHUMG00000165065 uc003ysa.4 "HM358356|AK125310" NR_108049 "23416875|23143645|21547902|24594601" 617705 ccat1 HGNC:45128 HGNC:47044 CCAT2 colon cancer associated transcript 2 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "NCCP1|LINC00873" "long intergenic non-protein coding RNA 873|non-coding RNA involved in cancer predisposition 1" colon cancer associated transcript 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-06-22 2018-05-16 2018-05-16 101805488 ENSG00000280997 OTTHUMG00000189734 GQ911591 NR_109834 "23796952|24504682" 619403 ccat2 HGNC:47044 @@ -3544,7 +3544,7 @@ HGNC:26533 CCDC7 coiled-coil domain containing 7 protein-coding gene gene with p HGNC:25367 CCDC8 coiled-coil domain containing 8 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "DKFZp564K0322|3M3|PPP1R20" protein phosphatase 1, regulatory subunit 20 Protein phosphatase 1 regulatory subunits 694 2004-02-11 2023-01-20 83987 ENSG00000169515 OTTHUMG00000162348 uc002pep.4 BC025243 NM_032040 CCDS12685 Q9H0W5 11230166 MGI:3612184 RGD:1359717 LRG_1258|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1258.xml 614145 270465 HGNC:25367 "ENST00000307522.5|NM_032040.5" HGNC:25367 HGNC:24560 CCDC9 coiled-coil domain containing 9 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 DKFZP586M1019 2004-02-11 2023-01-20 26093 ENSG00000105321 OTTHUMG00000183503 uc010xym.3 AL050284 NM_015603 CCDS12698 Q9Y3X0 11230166 MGI:1921443 RGD:1584422 HGNC:24560 "ENST00000221922.11|NM_015603.3" HGNC:33488 CCDC9B coiled-coil domain containing 9B protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ43339 C15orf52 chromosome 15 open reading frame 52 2007-06-14 2017-10-09 2017-10-09 2023-01-20 388115 ENSG00000188549 OTTHUMG00000129981 uc001zlh.5 AK124643 NM_207380 CCDS10055 Q6ZUT6 MGI:2685199 RGD:1565536 HGNC:33488 "ENST00000397536.7|NM_207380.3" -HGNC:28332 CCDC12 coiled-coil domain containing 12 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC23918 "Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1508|1510|1516" 2005-01-25 2023-01-20 151903 ENSG00000160799 OTTHUMG00000133513 uc062jbe.1 BC020830 NM_144716 "CCDS2748|CCDS63612" Q8WUD4 22269669 MGI:1919904 RGD:1306081 HGNC:28332 "ENST00000683445.1|NM_001277074.2" +HGNC:28332 CCDC12 coiled-coil domain containing 12 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC23918 "Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1508|1510|1516" 2005-01-25 2023-01-20 151903 ENSG00000160799 OTTHUMG00000133513 uc062jbe.1 BC020830 NM_144716 "CCDS63612|CCDS2748" Q8WUD4 22269669 MGI:1919904 RGD:1306081 HGNC:28332 "ENST00000683445.1|NM_001277074.2" HGNC:54595 CCDC12P1 CCDC12 pseudogene 1 pseudogene pseudogene Approved 2p16.3 02p16.3 2019-10-16 2020-01-21 100131852 ENSG00000226366 NG_012227 HGNC:26358 CCDC13 coiled-coil domain containing 13 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ25467 2005-01-25 2023-01-20 152206 ENSG00000244607 OTTHUMG00000133046 uc003cly.5 AK058196 NM_144719 CCDS2705 Q8IYE1 24816561 MGI:1920144 RGD:1586605 HGNC:26358 "ENST00000310232.11|NM_144719.4" HGNC:41142 CCDC13-AS1 CCDC13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 CCDC13 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874114 ENSG00000173811 OTTHUMG00000156256 uc062irr.1 NR_046732 CCDC13-AS1 HGNC:41142 @@ -3557,34 +3557,34 @@ HGNC:30370 CCDC18 coiled-coil domain containing 18 protein-coding gene gene with HGNC:52262 CCDC18-AS1 CCDC18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.1 01p22.1 ENST00000440778.1 Antisense RNAs 1987 2015-11-04 2015-11-04 100131564 ENSG00000223745 OTTHUMG00000010705 NR_034089 26421281 CCDC18-AS1 HGNC:52262 HGNC:28909 CCDC22 coiled-coil domain containing 22 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 JM1 CXorf37 chromosome X open reading frame 37 CCC complex 1557 2004-09-01 2005-07-24 2005-07-24 2023-01-20 28952 ENSG00000101997 OTTHUMG00000024141 uc004dnd.2 BC000972 NM_014008 CCDS14322 O60826 25355947 MGI:1859608 RGD:1560910 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CCDC22 300859 410622 HGNC:28909 "ENST00000376227.4|NM_014008.5" HGNC:28909 HGNC:28688 CCDC24 coiled-coil domain containing 24 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 MGC45441 2005-07-26 2023-01-20 149473 ENSG00000159214 OTTHUMG00000008299 uc001clj.4 NM_152499 CCDS507 Q8N4L8 12477932 MGI:2685874 RGD:1562911 HGNC:28688 "ENST00000372318.8|NM_152499.4" -HGNC:25591 CCDC25 coiled-coil domain containing 25 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 FLJ10853 2005-07-29 2023-01-20 55246 ENSG00000147419 OTTHUMG00000132173 uc003xgc.4 AK001715 NM_018246 "CCDS6062|CCDS78323|CCDS78324" Q86WR0 28789463 MGI:1914429 RGD:1307689 619100 HGNC:25591 "ENST00000356537.9|NM_018246.3" +HGNC:25591 CCDC25 coiled-coil domain containing 25 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 FLJ10853 2005-07-29 2023-01-20 55246 ENSG00000147419 OTTHUMG00000132173 uc003xgc.4 AK001715 NM_018246 "CCDS78323|CCDS78324|CCDS6062" Q86WR0 28789463 MGI:1914429 RGD:1307689 619100 HGNC:25591 "ENST00000356537.9|NM_018246.3" HGNC:28416 CCDC26 CCDC26 long non-coding RNA non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "MGC27434|RAM" retinoic acid modulator coiled-coil domain containing 26 Long non-coding RNAs with non-systematic symbols 1992 2005-08-05 2014-03-27 2016-11-24 137196 ENSG00000229140 OTTHUMG00000164848 uc064qez.1 BC026098 NR_130917 "16449964|23399484" 613040 ccdc26 CCDC26 HGNC:28416 HGNC:26546 CCDC27 coiled-coil domain containing 27 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 FLJ32825 2005-08-09 2023-01-20 148870 ENSG00000162592 OTTHUMG00000003504 uc001akv.3 NM_152492 CCDS50 Q2M243 MGI:2685881 RGD:1587099 HGNC:26546 "ENST00000294600.7|NM_152492.3" HGNC:21098 CCDC28A coiled-coil domain containing 28A protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "CCRL1AP|DKFZp586D0623" C6orf80 chromosome 6 open reading frame 80 2003-05-19 2005-09-12 2005-09-12 2023-01-20 25901 ENSG00000024862 OTTHUMG00000015683 uc063rvk.1 AY167571 NM_015439 CCDS5192 Q8IWP9 MGI:2443508 RGD:1310326 615353 HGNC:21098 "ENST00000617445.5|NM_015439.3" HGNC:51715 CCDC28A-AS1 CCDC28A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.1 06q24.1 GVQW2 GVQW motif containing 2 Antisense RNAs 1987 2015-09-17 2019-10-30 2019-10-30 2023-03-15 100507462 ENSG00000279968 OTTHUMG00000189248 NR_161203 A0A096LPI5 HGNC:51715 -HGNC:28163 CCDC28B coiled-coil domain containing 28B protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "MGC1203|RP4-622L5.5" 2005-09-12 2023-01-20 79140 ENSG00000160050 OTTHUMG00000005738 uc001bul.2 BC022848 NM_024296 "CCDS354|CCDS72749" Q9BUN5 "16327777|23727834" MGI:1913514 RGD:1583447 610162 470044 HGNC:28163 "ENST00000373602.10|NM_024296.5" HGNC:28163 -HGNC:26103 CCDC30 coiled-coil domain containing 30 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FLJ20972|PFD6L|LOC728621" prefoldin 6-like 2009-07-09 2023-03-15 728621 ENSG00000186409 OTTHUMG00000007334 uc057fjg.1 AY639646 NM_025030 "CCDS90931|CCDS90929|CCDS30690" Q5VVM6 16710767 MGI:1920582 RGD:1305604 HGNC:26103 "ENST00000657597.2|NM_001395517.1" -HGNC:28295 CCDC32 coiled-coil domain containing 32 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 MGC20481 C15orf57 chromosome 15 open reading frame 57 2005-10-21 2017-05-22 2017-05-22 2023-01-20 90416 ENSG00000128891 OTTHUMG00000129993 uc059htc.1 BC012189 NM_052849 "CCDS10060|CCDS73706" Q9BV29 33859415 MGI:2685477 RGD:1307516 618941 HGNC:28295 "ENST00000416810.7|NM_001080792.4" HGNC:28295 -HGNC:26552 CCDC33 coiled-coil domain containing 33 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "FLJ32855|CT61" cancer/testis antigen 61 C2 domain containing 823 2005-10-24 2023-01-20 80125 ENSG00000140481 OTTHUMG00000172621 uc002axo.4 BC025689 NM_182791 "CCDS42058|CCDS42059|CCDS73753" Q8N5R6 20068295 MGI:1922464 RGD:1561126 618525 HGNC:26552 "ENST00000398814.8|NM_025055.5" -HGNC:25079 CCDC34 coiled-coil domain containing 34 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "NY-REN-41|L15|RAMA3" 2005-10-28 2023-01-20 91057 ENSG00000109881 OTTHUMG00000166211 uc001mri.2 AF382034 NM_030771 "CCDS7863|CCDS31448" Q96HJ3 11173847 MGI:1915451 RGD:1560583 612324 HGNC:25079 "ENST00000328697.11|NM_030771.2" +HGNC:28163 CCDC28B coiled-coil domain containing 28B protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "MGC1203|RP4-622L5.5" 2005-09-12 2023-01-20 79140 ENSG00000160050 OTTHUMG00000005738 uc001bul.2 BC022848 NM_024296 "CCDS72749|CCDS354" Q9BUN5 "16327777|23727834" MGI:1913514 RGD:1583447 610162 470044 HGNC:28163 "ENST00000373602.10|NM_024296.5" HGNC:28163 +HGNC:26103 CCDC30 coiled-coil domain containing 30 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FLJ20972|PFD6L|LOC728621" prefoldin 6-like 2009-07-09 2023-03-15 728621 ENSG00000186409 OTTHUMG00000007334 uc057fjg.1 AY639646 NM_025030 "CCDS30690|CCDS90929|CCDS90931" Q5VVM6 16710767 MGI:1920582 RGD:1305604 HGNC:26103 "ENST00000657597.2|NM_001395517.1" +HGNC:28295 CCDC32 coiled-coil domain containing 32 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 MGC20481 C15orf57 chromosome 15 open reading frame 57 2005-10-21 2017-05-22 2017-05-22 2023-01-20 90416 ENSG00000128891 OTTHUMG00000129993 uc059htc.1 BC012189 NM_052849 "CCDS73706|CCDS10060" Q9BV29 33859415 MGI:2685477 RGD:1307516 618941 HGNC:28295 "ENST00000416810.7|NM_001080792.4" HGNC:28295 +HGNC:26552 CCDC33 coiled-coil domain containing 33 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "FLJ32855|CT61" cancer/testis antigen 61 C2 domain containing 823 2005-10-24 2023-01-20 80125 ENSG00000140481 OTTHUMG00000172621 uc002axo.4 BC025689 NM_182791 "CCDS73753|CCDS42058|CCDS42059" Q8N5R6 20068295 MGI:1922464 RGD:1561126 618525 HGNC:26552 "ENST00000398814.8|NM_025055.5" +HGNC:25079 CCDC34 coiled-coil domain containing 34 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "NY-REN-41|L15|RAMA3" 2005-10-28 2023-01-20 91057 ENSG00000109881 OTTHUMG00000166211 uc001mri.2 AF382034 NM_030771 "CCDS31448|CCDS7863" Q96HJ3 11173847 MGI:1915451 RGD:1560583 612324 HGNC:25079 "ENST00000328697.11|NM_030771.2" HGNC:44008 CCDC34P1 coiled-coil domain containing 34 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 2012-05-28 2012-05-28 100288584 ENSG00000250556 OTTHUMG00000161050 NG_022070 PGOHUM00000246029 HGNC:44008 HGNC:26843 CCDC38 coiled-coil domain containing 38 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 FLJ40089 2005-11-02 2023-01-20 120935 ENSG00000165972 OTTHUMG00000170352 uc001tek.3 AK097408 NM_182496 CCDS9056 Q502W7 25074808 MGI:2444738 RGD:1564046 HGNC:26843 "ENST00000344280.8|NM_182496.3" HGNC:25244 CCDC39 coiled-coil domain containing 39 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "DKFZp434A128|CILD14|FAP59|CFAP59" Cilia and flagella associated 1491 2005-11-11 2023-01-20 339829 ENSG00000284862 OTTHUMG00000157857 uc010hxe.4 BC047103 NM_181426 CCDS46964 Q9UFE4 21131972 MGI:1289263 RGD:1306277 613798 246552 HGNC:25244 "ENST00000476379.6|NM_181426.2" HGNC:25244 -HGNC:41089 CCDC39-AS1 CCDC39 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 CCDC39 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874112 ENSG00000243187 OTTHUMG00000157929 uc062qhk.1 CCDC39-AS1 -HGNC:26090 CCDC40 coiled-coil domain containing 40 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ20753|KIAA1640|FLJ32021|CILD15|FAP172|CFAP172" "Cilia and flagella associated|MicroRNA protein coding host genes" "1491|1691" 2005-12-13 2023-01-20 55036 ENSG00000141519 OTTHUMG00000132707 uc010dht.4 AB046860 NM_001243342 "CCDS42395|CCDS82212|CCDS58604" Q4G0X9 21131974 MGI:2443893 RGD:1592118 613799 246554 HGNC:26090 "ENST00000397545.9|NM_017950.4" HGNC:26090 -HGNC:26528 CCDC42 coiled-coil domain containing 42 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ32734|CCDC42A" 2005-12-15 2023-01-20 146849 ENSG00000161973 OTTHUMG00000178565 uc002gln.4 AK057296 NM_144681 "CCDS11145|CCDS54088" Q96M95 MGI:3045254 RGD:1565925 HGNC:26528 "ENST00000293845.8|NM_144681.3" +HGNC:41089 CCDC39-AS1 CCDC39 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 CCDC39 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874112 ENSG00000243187 OTTHUMG00000157929 uc062qhk.1 NR_046725 CCDC39-AS1 +HGNC:26090 CCDC40 coiled-coil domain containing 40 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ20753|KIAA1640|FLJ32021|CILD15|FAP172|CFAP172" "Cilia and flagella associated|MicroRNA protein coding host genes" "1491|1691" 2005-12-13 2023-01-20 55036 ENSG00000141519 OTTHUMG00000132707 uc010dht.4 AB046860 NM_001243342 "CCDS58604|CCDS82212|CCDS42395" Q4G0X9 21131974 MGI:2443893 RGD:1592118 613799 246554 HGNC:26090 "ENST00000397545.9|NM_017950.4" HGNC:26090 +HGNC:26528 CCDC42 coiled-coil domain containing 42 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ32734|CCDC42A" 2005-12-15 2023-01-20 146849 ENSG00000161973 OTTHUMG00000178565 uc002gln.4 AK057296 NM_144681 "CCDS54088|CCDS11145" Q96M95 MGI:3045254 RGD:1565925 HGNC:26528 "ENST00000293845.8|NM_144681.3" HGNC:26472 CCDC43 coiled-coil domain containing 43 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ31795 2005-12-16 2023-01-20 124808 ENSG00000180329 OTTHUMG00000181822 uc002ihc.3 AK056357 NM_144609 "CCDS45705|CCDS45704" Q96MW1 30562730 MGI:1289318 RGD:1311929 HGNC:26472 "ENST00000315286.13|NM_144609.3" HGNC:24856 CCDC47 coiled-coil domain containing 47 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 GK001 Calumin 2005-12-19 2023-01-20 57003 ENSG00000108588 OTTHUMG00000178933 uc002jbs.5 AF226054 NM_020198 CCDS11643 Q96A33 "17204322|25009997|31266804|36261528" MGI:1914413 RGD:1308813 618260 HGNC:24856 "ENST00000225726.10|NM_020198.3" -HGNC:18111 CCDC50 coiled-coil domain containing 50 protein-coding gene gene with protein product Approved 3q28 03q28 Ymer "C3orf6|DFNA44" deafness, autosomal dominant 44 2002-01-31 2005-12-23 2023-01-20 152137 ENSG00000152492 OTTHUMG00000156177 uc003fsv.4 AJ416916 NM_174908 "CCDS33912|CCDS33913" Q8IVM0 "16803894|17503326|22331027|34453126" MGI:1914751 RGD:727841 LRG_1382|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1382.xml 611051 159308 HGNC:18111 "ENST00000392455.9|NM_178335.3" HGNC:18111 +HGNC:18111 CCDC50 coiled-coil domain containing 50 protein-coding gene gene with protein product Approved 3q28 03q28 Ymer "C3orf6|DFNA44" deafness, autosomal dominant 44 2002-01-31 2005-12-23 2023-01-20 152137 ENSG00000152492 OTTHUMG00000156177 uc003fsv.4 AJ416916 NM_174908 "CCDS33913|CCDS33912" Q8IVM0 "16803894|17503326|22331027|34453126" MGI:1914751 RGD:727841 LRG_1382|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1382.xml 611051 159308 HGNC:18111 "ENST00000392455.9|NM_178335.3" HGNC:18111 HGNC:25714 CCDC51 coiled-coil domain containing 51 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ12436 2005-12-30 2023-01-20 79714 ENSG00000164051 OTTHUMG00000133534 uc031rzm.2 AK022498 NM_024661 "CCDS58830|CCDS2766" Q96ER9 31435016 MGI:1913908 RGD:1311466 618585 HGNC:25714 "ENST00000395694.7|NM_001256964.2" HGNC:30703 CCDC54 coiled-coil domain containing 54 protein-coding gene gene with protein product Approved 3q13.12 03q13.12 "NYD-SP17|FLJ25362|SP17" sperm protein 17 2006-01-10 2023-01-20 84692 ENSG00000138483 OTTHUMG00000159169 uc003dwi.2 AF367469 NM_032600 CCDS2949 Q8NEL0 15257753 MGI:1916589 RGD:1559779 HGNC:30703 "ENST00000261058.3|NM_032600.3" HGNC:56107 CCDC54-AS1 CCDC54 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.12 03q13.12 Antisense RNAs 1987 2022-01-06 2022-01-06 101929579 ENSG00000239828 NR_126332 -HGNC:27564 CCDC57 coiled-coil domain containing 57 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ00130|FLJ23754" 2006-01-12 2023-03-15 284001 ENSG00000176155 OTTHUMG00000140396 uc060lwj.1 BC040264 NM_198082 "CCDS92420|CCDS92419|CCDS11803" Q2TAC2 32402286 MGI:1918526 RGD:1590047 HGNC:27564 "ENST00000694881.1|NM_001394669.1" +HGNC:27564 CCDC57 coiled-coil domain containing 57 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ00130|FLJ23754" 2006-01-12 2023-03-15 284001 ENSG00000176155 OTTHUMG00000140396 uc060lwj.1 BC040264 NM_198082 "CCDS92419|CCDS92420|CCDS11803" Q2TAC2 32402286 MGI:1918526 RGD:1590047 HGNC:27564 "ENST00000694881.1|NM_001394669.1" HGNC:25005 CCDC59 coiled-coil domain containing 59 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "HSPC128|TAP26|BR22" 2006-01-23 2023-01-20 29080 ENSG00000133773 OTTHUMG00000170251 uc001szp.5 AF213377 NM_014167 CCDS9023 Q9P031 "16630564|12882447" MGI:1289302 RGD:1311912 619280 HGNC:25005 "ENST00000256151.8|NM_014167.5" HGNC:28610 CCDC60 coiled-coil domain containing 60 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 MGC39827 2006-01-23 2023-01-20 160777 ENSG00000183273 OTTHUMG00000168943 uc001txe.3 BC040553 NM_178499 CCDS9190 Q8IWA6 12477932 MGI:2141043 RGD:1564283 HGNC:28610 "ENST00000327554.3|NM_178499.5" HGNC:33629 CCDC61 coiled-coil domain containing 61 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "VFL3|hVFL3" variable flagellar number 3 homolog (C. reinhardtii) 2007-10-18 2023-01-20 729440 ENSG00000104983 OTTHUMG00000182488 uc031rlj.2 NM_001080402 CCDS46120 Q9Y6R9 "32375023|31789463" MGI:2685005 RGD:1307390 HGNC:33629 "ENST00000595358.5|NM_001267723.2" HGNC:30723 CCDC62 coiled-coil domain containing 62 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "TSP-NY|FLJ40344|CT109|ERAP75" cancer/testis antigen 109 2006-01-23 2023-03-15 84660 ENSG00000130783 OTTHUMG00000168764 uc001udc.4 NM_032573 CCDS9238 Q6P9F0 "18563714|19126643" MGI:2684996 RGD:1586391 613481 HGNC:30723 "ENST00000253079.11|NM_201435.5" -HGNC:26669 CCDC63 coiled-coil domain containing 63 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "ODA5|FLJ35843" outer row dynein assembly 5 homolog (Chlamydomonas) 2006-01-24 2023-01-20 160762 ENSG00000173093 OTTHUMG00000169534 uc001trv.2 AK093162 NM_152591 "CCDS9151|CCDS66470|CCDS73528" Q8NA47 MGI:3607777 RGD:1562334 617969 HGNC:26669 "ENST00000308208.10|NM_152591.3" +HGNC:26669 CCDC63 coiled-coil domain containing 63 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "ODA5|FLJ35843" outer row dynein assembly 5 homolog (Chlamydomonas) 2006-01-24 2023-01-20 160762 ENSG00000173093 OTTHUMG00000169534 uc001trv.2 AK093162 NM_152591 "CCDS73528|CCDS66470|CCDS9151" Q8NA47 MGI:3607777 RGD:1562334 617969 HGNC:26669 "ENST00000308208.10|NM_152591.3" HGNC:29937 CCDC65 coiled-coil domain containing 65 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "NYD-SP28|FLJ35732|FAP250|CFAP250|CILD27|DRC2" "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2006-01-26 2023-01-20 85478 ENSG00000139537 OTTHUMG00000170401 uc001rso.4 NM_033124 CCDS8772 Q8IXS2 "17089017|21700706" MGI:2146001 RGD:1595842 611088 367625 HGNC:29937 "ENST00000320516.5|NM_033124.5" HGNC:29937 HGNC:27709 CCDC66 coiled-coil domain containing 66 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 DKFZp686C0433 2006-02-01 2023-01-20 285331 ENSG00000180376 OTTHUMG00000155748 uc003dhu.4 AL832692 NM_001012506 "CCDS46852|CCDS33770" A2RUB6 "14702039|36606424" MGI:2443639 RGD:1560873 619287 HGNC:27709 "ENST00000394672.8|NM_001141947.3" HGNC:24350 CCDC68 coiled-coil domain containing 68 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 SE57-1 cutaneous T-cell lymphoma associated antigen 2006-02-06 2023-01-20 80323 ENSG00000166510 OTTHUMG00000132708 uc002lft.3 NM_025214 CCDS11959 Q9H2F9 "11149944|15142679" MGI:3612676 RGD:1561424 616909 HGNC:24350 "ENST00000591504.6|NM_025214.3" @@ -3593,29 +3593,29 @@ HGNC:25303 CCDC70 coiled-coil domain containing 70 protein-coding gene gene with HGNC:25760 CCDC71 coiled-coil domain containing 71 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ12800 2006-02-09 2023-01-20 64925 ENSG00000177352 OTTHUMG00000156815 uc003cwg.5 AK022862 NM_022903 CCDS2790 Q8IV32 34780483 MGI:1919704 RGD:1566341 HGNC:25760 "ENST00000321895.7|NM_022903.4" HGNC:26685 CCDC71L coiled-coil domain containing 71 like protein-coding gene gene with protein product Approved 7q22.3 07q22.3 FLJ36031 C7orf74 chromosome 7 open reading frame 74 2011-08-04 2011-12-12 2017-02-21 2023-01-20 168455 ENSG00000253276 OTTHUMG00000164150 uc003vdt.4 NM_175884 CCDS55151 Q8N9Z2 12477932 MGI:1919373 RGD:1560812 HGNC:26685 "ENST00000523505.3|NM_175884.6" HGNC:23261 CCDC73 coiled-coil domain containing 73 protein-coding gene gene with protein product Approved 11p13 11p13 NY-SAR-79 2006-02-11 2023-01-20 493860 ENSG00000186714 OTTHUMG00000166279 uc001mtv.5 AK128159 NM_001008391 CCDS41630 Q6ZRK6 MGI:3606488 RGD:1563448 612328 HGNC:23261 "ENST00000335185.10|NM_001008391.4" -HGNC:25197 CCDC74A coiled-coil domain containing 74A protein-coding gene gene with protein product Approved 2q21.1 02q21.1 FLJ40345 2006-02-13 2006-02-16 2023-01-20 90557 ENSG00000163040 OTTHUMG00000131667 uc002tta.5 NM_138770 "CCDS58732|CCDS74578|CCDS2167" Q96AQ1 31521166 MGI:1919565 RGD:1588214 HGNC:25197 "ENST00000409856.8|NM_001258306.3" +HGNC:25197 CCDC74A coiled-coil domain containing 74A protein-coding gene gene with protein product Approved 2q21.1 02q21.1 FLJ40345 2006-02-13 2006-02-16 2023-01-20 90557 ENSG00000163040 OTTHUMG00000131667 uc002tta.5 NM_138770 "CCDS2167|CCDS58732|CCDS74578" Q96AQ1 31521166 MGI:1919565 RGD:1588214 HGNC:25197 "ENST00000409856.8|NM_001258306.3" HGNC:25267 CCDC74B coiled-coil domain containing 74B protein-coding gene gene with protein product Approved 2q21.1 02q21.1 DKFZp434E2321 2006-02-13 2006-02-16 2023-01-20 91409 ENSG00000152076 OTTHUMG00000131629 uc002tqm.3 NM_207310 "CCDS2155|CCDS58726" Q96LY2 31521166 MGI:1919565 HGNC:25267 "ENST00000409943.8|NM_001258307.2" HGNC:51917 CCDC74BP1 coiled-coil domain containing 74B pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 2015-10-06 2015-10-06 100996538 ENSG00000250261 OTTHUMG00000150880 PGOHUM00000297464 HGNC:51917 -HGNC:28203 CCDC77 coiled-coil domain containing 77 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 MGC13183 2006-02-16 2023-01-20 84318 ENSG00000120647 OTTHUMG00000129214 uc001qig.4 AK027638 NM_032358 "CCDS8503|CCDS44781" Q9BR77 12477932 MGI:1914450 RGD:1310710 HGNC:28203 "ENST00000239830.9|NM_032358.4" +HGNC:28203 CCDC77 coiled-coil domain containing 77 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 MGC13183 2006-02-16 2023-01-20 84318 ENSG00000120647 OTTHUMG00000129214 uc001qig.4 AK027638 NM_032358 "CCDS44781|CCDS8503" Q9BR77 12477932 MGI:1914450 RGD:1310710 HGNC:28203 "ENST00000239830.9|NM_032358.4" HGNC:14153 CCDC78 coiled-coil domain containing 78 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ34512 C16orf25 2000-12-21 2006-02-20 2023-03-15 124093 ENSG00000162004 OTTHUMG00000121176 uc002cjg.3 BC042110 NM_173476 "CCDS92076|CCDS32353" A2IDD5 24075808 MGI:2685784 RGD:1560244 LRG_705|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_705.xml 614666 310451 HGNC:14153 "ENST00000345165.10|NM_001378030.1" HGNC:14153 HGNC:30649 CCDC80 coiled-coil domain containing 80 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "URB|SSG1|DRO1|CL2|TCONS_00006930" steroid sensitive gene 1 LINC01279 long intergenic non-protein coding RNA 1279 2006-03-30 2023-01-20 151887 ENSG00000091986 OTTHUMG00000159265 uc032rxo.2 AY333429 NM_199511 CCDS2968 Q76M96 "15325258|18178152" MGI:1915146 RGD:69421 608298 HGNC:30649 "ENST00000206423.8|NM_199511.3" -HGNC:26281 CCDC81 coiled-coil domain containing 81 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "FLJ16339|FLJ23514" 2006-03-09 2023-03-28 60494 ENSG00000149201 OTTHUMG00000167213 uc001pbx.3 AK131331 NM_021827 "CCDS8276|CCDS53691" Q6ZN84 "25074808|28441108" MGI:1918134 RGD:1306766 HGNC:26281 "ENST00000445632.7|NM_001156474.2" -HGNC:26282 CCDC82 coiled-coil domain containing 82 protein-coding gene gene with protein product Approved 11q21 11q21 FLJ23518 2006-03-09 2023-01-20 79780 ENSG00000149231 OTTHUMG00000167678 uc058gsk.1 AF245436 NM_024725 "CCDS86241|CCDS86243|CCDS8307" Q8N4S0 12477932 MGI:1913646 RGD:1359666 619870 HGNC:26282 "ENST00000646818.2|NM_024725.4" -HGNC:28535 CCDC83 coiled-coil domain containing 83 protein-coding gene gene with protein product Approved 11q14.1-q14.2 11q14.1-q14.2 "MGC34732|FLJ42119|CT148|KP-CoT-23" 2006-03-10 2023-01-20 220047 ENSG00000150676 OTTHUMG00000166978 uc001pbg.3 AK124113 NM_173556 "CCDS66196|CCDS8271" Q8IWF9 22923163 MGI:1918255 RGD:1594161 HGNC:28535 "ENST00000342404.8|NM_001286159.2" +HGNC:26281 CCDC81 coiled-coil domain containing 81 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "FLJ16339|FLJ23514" 2006-03-09 2023-03-28 60494 ENSG00000149201 OTTHUMG00000167213 uc001pbx.3 AK131331 NM_021827 "CCDS53691|CCDS8276" Q6ZN84 "25074808|28441108" MGI:1918134 RGD:1306766 HGNC:26281 "ENST00000445632.7|NM_001156474.2" +HGNC:26282 CCDC82 coiled-coil domain containing 82 protein-coding gene gene with protein product Approved 11q21 11q21 FLJ23518 2006-03-09 2023-01-20 79780 ENSG00000149231 OTTHUMG00000167678 uc058gsk.1 AF245436 NM_024725 "CCDS86243|CCDS8307|CCDS86241" Q8N4S0 12477932 MGI:1913646 RGD:1359666 619870 HGNC:26282 "ENST00000646818.2|NM_024725.4" +HGNC:28535 CCDC83 coiled-coil domain containing 83 protein-coding gene gene with protein product Approved 11q14.1-q14.2 11q14.1-q14.2 "MGC34732|FLJ42119|CT148|KP-CoT-23" 2006-03-10 2023-01-20 220047 ENSG00000150676 OTTHUMG00000166978 uc001pbg.3 AK124113 NM_173556 "CCDS8271|CCDS66196" Q8IWF9 22923163 MGI:1918255 RGD:1594161 HGNC:28535 "ENST00000342404.8|NM_001286159.2" HGNC:29400 CCDC85A coiled-coil domain containing 85A protein-coding gene gene with protein product Approved 2p16.1 02p16.1 KIAA1912 2006-03-29 2023-01-20 114800 ENSG00000055813 OTTHUMG00000152033 uc002rzn.4 AB067499 NM_001080433 CCDS46290 Q96PX6 11572484 MGI:2445069 RGD:1311700 HGNC:29400 "ENST00000407595.3|NM_001080433.2" HGNC:24926 CCDC85B coiled-coil domain containing 85B protein-coding gene gene with protein product Approved 11q13.1 11q13.1 DIPA hepatitis delta antigen interacting protein A 2006-03-29 2023-01-20 11007 ENSG00000175602 OTTHUMG00000166722 uc001ogf.4 BC008796 NM_006848 CCDS8120 Q15834 "8810253|15644333|17873903" MGI:2147607 RGD:1565319 605360 HGNC:24926 "ENST00000312579.4|NM_006848.3" HGNC:35459 CCDC85C coiled-coil domain containing 85C protein-coding gene gene with protein product Approved 14q32.2 14q32.2 2009-02-18 2023-01-20 317762 ENSG00000205476 OTTHUMG00000171506 uc010avr.4 NM_001144995 CCDS45161 A6NKD9 MGI:3644008 RGD:1589818 HGNC:35459 "ENST00000380243.9|NM_001144995.2" HGNC:28359 CCDC86 coiled-coil domain containing 86 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "MGC2574|cyclon" cytokine-induced protein with coiled-coil domain 2006-03-15 2023-01-20 79080 ENSG00000110104 OTTHUMG00000167706 uc001nqa.3 AK025974 NM_024098 CCDS7993 Q9H6F5 23528659 MGI:1277220 RGD:1359280 611293 HGNC:28359 "ENST00000227520.10|NM_024098.4" HGNC:56314 CCDC86-AS1 CCDC86 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 "RP5-1148A21.3|lncRP5" Antisense RNAs 1987 2022-09-08 2022-09-08 127138859 ENSG00000256813 NR_182293 35538027 HGNC:25579 CCDC87 coiled-coil domain containing 87 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ10786 2006-03-15 2023-01-20 55231 ENSG00000182791 OTTHUMG00000167237 uc001oiq.5 BC034469 NM_018219 CCDS8145 Q9NVE4 29733332 MGI:3026882 RGD:1596153 HGNC:25579 "ENST00000333861.5|NM_018219.3" -HGNC:25523 CCDC88A coiled-coil domain containing 88A protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "FLJ10392|APE|GIV|HkRP1|GRDN" "Galpha-interacting vesicle-associated protein|Akt-phosphorylation enhancer|girdin|girders of actin filaments" KIAA1212 KIAA1212 2004-01-13 2007-05-31 2007-05-31 2023-01-20 55704 ENSG00000115355 OTTHUMG00000151915 uc010yoz.2 "AB033038|AF112218" NM_017571 "CCDS46288|CCDS92755|CCDS58710|CCDS33203" Q3V6T2 "15749703|15753085" MGI:1925177 RGD:1306694 609736 459019 HGNC:25523 "ENST00000436346.7|NM_001365480.1" HGNC:25523 +HGNC:25523 CCDC88A coiled-coil domain containing 88A protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "FLJ10392|APE|GIV|HkRP1|GRDN" "Galpha-interacting vesicle-associated protein|Akt-phosphorylation enhancer|girdin|girders of actin filaments" KIAA1212 KIAA1212 2004-01-13 2007-05-31 2007-05-31 2023-01-20 55704 ENSG00000115355 OTTHUMG00000151915 uc010yoz.2 "AB033038|AF112218" NM_017571 "CCDS58710|CCDS92755|CCDS46288|CCDS33203" Q3V6T2 "15749703|15753085" MGI:1925177 RGD:1306694 609736 459019 HGNC:25523 "ENST00000436346.7|NM_001365480.1" HGNC:25523 HGNC:26757 CCDC88B coiled-coil domain containing 88B protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FLJ37970|BRLZ|HkRP3|FLJ00354|GIPIE" "brain leucine zipper protein|GRP78-interacting protein induced by ER stress" CCDC88 coiled-coil domain containing 88 2006-03-16 2007-05-31 2007-05-31 2023-01-20 283234 ENSG00000168071 OTTHUMG00000045419 uc001nzy.4 AK090436 NM_032251 CCDS8072 A6NC98 "15882442|21289099" MGI:1925567 RGD:1311475 611205 HGNC:26757 "ENST00000356786.10|NM_032251.6" HGNC:19967 CCDC88C coiled-coil domain containing 88C protein-coding gene gene with protein product Approved 14q32.11-q32.12 14q32.11-q32.12 "DAPLE|HkRP2|SCA40" "Dvl-associating protein with a high frequency of leucine residues|spinocerebellar ataxia 40" KIAA1509 KIAA1509 2003-11-21 2007-05-31 2007-05-31 2023-01-20 440193 ENSG00000015133 OTTHUMG00000171099 uc010aty.4 NM_001080414 CCDS45151 Q9P219 "17185515|25062847" MGI:1915589 RGD:1307429 611204 320663 HGNC:19967 "ENST00000389857.11|NM_001080414.4" HGNC:19967 HGNC:55438 CCDC88C-DT CCDC88C divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.12 14q32.12 Divergent transcripts 1990 2021-01-14 2021-01-14 105370625 ENSG00000258798 NR_184261 HGNC:26762 CCDC89 coiled-coil domain containing 89 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 FLJ38159 2006-03-16 2023-01-20 220388 ENSG00000179071 OTTHUMG00000166976 uc001pau.2 AK095478 NM_152723 CCDS8270 Q8N998 12477932 MGI:1917304 RGD:1305335 HGNC:26762 "ENST00000316398.5|NM_152723.3" HGNC:28108 CCDC90B coiled-coil domain containing 90B protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "MDS025|MDS011" 2006-10-23 2023-01-20 60492 ENSG00000137500 OTTHUMG00000167078 uc001pae.5 BC048795 NM_021825 "CCDS8266|CCDS66190" Q9GZT6 "11230166|30612859" MGI:1913615 RGD:1308637 HGNC:28108 "ENST00000529689.6|NM_021825.5" HGNC:55505 CCDC90B-AS1 CCDC90B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Antisense RNAs 1987 2021-03-17 2021-03-17 120883614 ENSG00000255234 XR_007062814 -HGNC:24855 CCDC91 coiled-coil domain containing 91 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "p56|FLJ11088|DKFZp779L1558" GGA binding partner 2006-03-17 2023-01-20 55297 ENSG00000123106 OTTHUMG00000169141 uc001riq.4 AK093152 NM_018318 "CCDS81675|CCDS8716" Q7Z6B0 12808037 MGI:1914265 RGD:1359502 617366 HGNC:24855 "ENST00000536442.6|NM_018318.5" HGNC:24855 +HGNC:24855 CCDC91 coiled-coil domain containing 91 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "p56|FLJ11088|DKFZp779L1558" GGA binding partner 2006-03-17 2023-01-20 55297 ENSG00000123106 OTTHUMG00000169141 uc001riq.4 AK093152 NM_018318 "CCDS8716|CCDS81675" Q7Z6B0 12808037 MGI:1914265 RGD:1359502 617366 HGNC:24855 "ENST00000536442.6|NM_018318.5" HGNC:24855 HGNC:29563 CCDC92 coiled-coil domain containing 92 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ22471 limkain beta 2 2006-03-17 2023-01-20 80212 ENSG00000119242 OTTHUMG00000168725 uc058uvp.1 AK026124 NM_025140 "CCDS76619|CCDS9256" Q53HC0 12477932 MGI:106485 RGD:1601131 HGNC:29563 "ENST00000238156.8|NM_025140.3" HGNC:52279 CCDC92B coiled-coil domain containing 92B protein-coding gene gene with protein product Approved 17p13.3 17p13.3 MicroRNA protein coding host genes 1691 2015-12-14 2023-03-01 101928991 ENSG00000277200 OTTHUMG00000178197 NM_001355573 CCDS92222 MGI:3588240 RGD:1562276 HGNC:52279 "ENST00000614400.2|NM_001355573.2" HGNC:25611 CCDC93 coiled-coil domain containing 93 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 FLJ10996 CCC complex 1557 2006-03-24 2023-01-20 54520 ENSG00000125633 OTTHUMG00000058517 uc002tlj.4 BC028609 NM_019044 CCDS2121 Q567U6 25355947 MGI:1918079 RGD:1560504 HGNC:25611 "ENST00000376300.7|NM_019044.5" @@ -3624,31 +3624,31 @@ HGNC:28289 CCDC97 coiled-coil domain containing 97 protein-coding gene gene with HGNC:28097 CCDC102A coiled-coil domain containing 102A protein-coding gene gene with protein product Approved 16q21 16q21 MGC10992 2006-04-10 2023-01-20 92922 ENSG00000135736 OTTHUMG00000133472 uc002elw.4 BC008285 NM_033212 CCDS10784 Q96A19 12477932 MGI:2686927 RGD:1308684 HGNC:28097 "ENST00000258214.3|NM_033212.4" HGNC:26295 CCDC102B coiled-coil domain containing 102B protein-coding gene gene with protein product Approved 18q22.1 18q22.1 "FLJ23594|HsT1731|AN" "C18orf14|ACY1L" "chromosome 18 open reading frame 14|aminoacylase 1-like" 2004-04-29 2006-04-10 2006-04-10 2023-01-20 79839 ENSG00000150636 OTTHUMG00000132808 uc060pyl.1 AK027247 NM_024781 CCDS11996 Q68D86 14702039 HGNC:26295 "ENST00000360242.9|NM_024781.3" HGNC:32700 CCDC103 coiled-coil domain containing 103 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "FLJ13094|FLJ34211|PR46b|CILD17" Axonemal dynein assembly factors 1627 2006-04-25 2023-01-20 388389 ENSG00000167131 OTTHUMG00000154264 uc060gdg.1 AK023156 NM_213607 "CCDS11490|CCDS58554" Q8IW40 22581229 MGI:1920543 RGD:1562370 614677 303726 HGNC:32700 "ENST00000417826.3|NM_213607.3" HGNC:32700 -HGNC:30181 CCDC106 coiled-coil domain containing 106 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 HSU79303 2006-05-09 2023-01-20 29903 ENSG00000173581 OTTHUMG00000180907 uc002qlr.4 AF054984 NM_013301 "CCDS33118|CCDS92692" Q9BWC9 "8619474|9110174" MGI:2385900 RGD:1566222 613478 HGNC:30181 "ENST00000586790.6|NM_001370470.1" -HGNC:28465 CCDC107 coiled-coil domain containing 107 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 MGC31967 2006-05-12 2023-01-20 203260 ENSG00000159884 OTTHUMG00000019868 uc011lox.3 AK075523 NM_174923 "CCDS56573|CCDS6583|CCDS56574|CCDS56575" Q8WV48 12477932 MGI:1913423 RGD:1560252 HGNC:28465 "ENST00000426546.7|NM_174923.3" +HGNC:30181 CCDC106 coiled-coil domain containing 106 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 HSU79303 2006-05-09 2023-01-20 29903 ENSG00000173581 OTTHUMG00000180907 uc002qlr.4 AF054984 NM_013301 "CCDS92692|CCDS33118" Q9BWC9 "8619474|9110174" MGI:2385900 RGD:1566222 613478 HGNC:30181 "ENST00000586790.6|NM_001370470.1" +HGNC:28465 CCDC107 coiled-coil domain containing 107 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 MGC31967 2006-05-12 2023-01-20 203260 ENSG00000159884 OTTHUMG00000019868 uc011lox.3 AK075523 NM_174923 "CCDS56575|CCDS6583|CCDS56574|CCDS56573" Q8WV48 12477932 MGI:1913423 RGD:1560252 HGNC:28465 "ENST00000426546.7|NM_174923.3" HGNC:28504 CCDC110 coiled-coil domain containing 110 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "KM-HN-1|MGC33607|CT52" cancer/testis antigen 52 2006-10-23 2023-01-20 256309 ENSG00000168491 OTTHUMG00000160415 uc003ixu.5 AB080722 NM_152775 "CCDS47170|CCDS3843" Q8TBZ0 18160854 MGI:2685018 RGD:1564538 609488 HGNC:28504 "ENST00000307588.8|NM_152775.4" -HGNC:28599 CCDC112 coiled-coil domain containing 112 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 MGC39633 2006-05-23 2023-01-20 153733 ENSG00000164221 OTTHUMG00000128894 uc063gda.1 BC031242 NM_152549 "CCDS34213|CCDS93761|CCDS4117" Q8NEF3 30174296 MGI:1918800 RGD:1561942 HGNC:28599 "ENST00000379611.10|NM_001040440.3" -HGNC:25002 CCDC113 coiled-coil domain containing 113 protein-coding gene gene with protein product Approved 16q21 16q21 "HSPC065|DKFZp434N1418" 2006-06-13 2023-01-20 29070 ENSG00000103021 OTTHUMG00000133489 uc002ene.4 AL136785 NM_014157 "CCDS10795|CCDS45497" Q9H0I3 "25074808|33661892" MGI:3606076 RGD:1565763 616070 HGNC:25002 "ENST00000219299.8|NM_014157.4" +HGNC:28599 CCDC112 coiled-coil domain containing 112 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 MGC39633 2006-05-23 2023-01-20 153733 ENSG00000164221 OTTHUMG00000128894 uc063gda.1 BC031242 NM_152549 "CCDS34213|CCDS4117|CCDS93761" Q8NEF3 30174296 MGI:1918800 RGD:1561942 HGNC:28599 "ENST00000379611.10|NM_001040440.3" +HGNC:25002 CCDC113 coiled-coil domain containing 113 protein-coding gene gene with protein product Approved 16q21 16q21 "HSPC065|DKFZp434N1418" 2006-06-13 2023-01-20 29070 ENSG00000103021 OTTHUMG00000133489 uc002ene.4 AL136785 NM_014157 "CCDS45497|CCDS10795" Q9H0I3 "25074808|33661892" MGI:3606076 RGD:1565763 616070 HGNC:25002 "ENST00000219299.8|NM_014157.4" HGNC:28178 CCDC115 coiled-coil domain containing 115 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "MGC12981|FLJ30131|ccp1" 2006-07-03 2023-01-20 84317 ENSG00000136710 OTTHUMG00000131631 uc002tqy.3 AK054693 NM_032357 "CCDS2159|CCDS82512" Q96NT0 "21118521|26833332" MGI:1916918 RGD:1304653 613734 470040 HGNC:28178 "ENST00000259229.7|NM_032357.4" HGNC:28178 -HGNC:26688 CCDC116 coiled-coil domain containing 116 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 FLJ36046 2006-06-27 2023-01-20 164592 ENSG00000161180 OTTHUMG00000150821 uc002zve.4 BC033499 NM_152612 "CCDS87008|CCDS13791" Q8IYX3 25074808 MGI:1924122 RGD:1310080 HGNC:26688 "ENST00000292779.4|NM_152612.3" -HGNC:26599 CCDC117 coiled-coil domain containing 117 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 FLJ33814 2006-06-27 2023-01-20 150275 ENSG00000159873 OTTHUMG00000151091 uc003aeb.5 AK091133 NM_173510 "CCDS13846|CCDS63436|CCDS63435" Q8IWD4 30742009 MGI:2144383 RGD:1561762 HGNC:26599 "ENST00000249064.9|NM_173510.4" +HGNC:26688 CCDC116 coiled-coil domain containing 116 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 FLJ36046 2006-06-27 2023-01-20 164592 ENSG00000161180 OTTHUMG00000150821 uc002zve.4 BC033499 NM_152612 "CCDS13791|CCDS87008" Q8IYX3 25074808 MGI:1924122 RGD:1310080 HGNC:26688 "ENST00000292779.4|NM_152612.3" +HGNC:26599 CCDC117 coiled-coil domain containing 117 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 FLJ33814 2006-06-27 2023-01-20 150275 ENSG00000159873 OTTHUMG00000151091 uc003aeb.5 AK091133 NM_173510 "CCDS63435|CCDS63436|CCDS13846" Q8IWD4 30742009 MGI:2144383 RGD:1561762 HGNC:26599 "ENST00000249064.9|NM_173510.4" HGNC:28910 CCDC120 coiled-coil domain containing 120 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 JM11 2006-07-11 2023-01-20 90060 ENSG00000147144 OTTHUMG00000021509 uc064zdh.1 BC008769 NM_033626 "CCDS55414|CCDS55413|CCDS14316" Q96HB5 25326380 MGI:1859619 RGD:1561596 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CCDC120 300947 HGNC:28910 "ENST00000603986.6|NM_001163321.4" HGNC:25833 CCDC121 coiled-coil domain containing 121 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ43364|FLJ13646" 2006-07-26 2023-03-15 79635 ENSG00000176714 OTTHUMG00000128427 uc002rle.4 AK125354 NM_024584 "CCDS46247|CCDS1759" Q6ZUS5 MGI:1914906 RGD:1566190 HGNC:25833 "ENST00000324364.4|NM_024584.5" HGNC:55052 CCDC121P1 CCDC121 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 643888 ENSG00000271400 NG_009150 HGNC:26478 CCDC122 coiled-coil domain containing 122 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 FLJ31846 2006-08-08 2023-01-20 160857 ENSG00000151773 OTTHUMG00000017413 uc010acf.4 AK056408 NM_144974 CCDS9390 Q5T0U0 MGI:1918358 RGD:2321506 613408 HGNC:26478 "ENST00000444614.8|NM_144974.5" HGNC:25171 CCDC124 coiled-coil domain containing 124 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "Lso2|oxs1" 2006-08-08 2023-01-20 115098 ENSG00000007080 OTTHUMG00000183405 uc010xpz.3 BC013949 NM_138442 CCDS12369 Q96CT7 "23894443|32687489" MGI:1916403 RGD:1310931 HGNC:25171 "ENST00000445755.7|NM_001136203.2" -HGNC:28924 CCDC125 coiled-coil domain containing 125 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 KENAE 2006-08-09 2023-01-20 202243 ENSG00000183323 OTTHUMG00000131259 uc003jvv.2 AB024691 NM_176816 "CCDS75255|CCDS4000" Q86Z20 MGI:1923291 RGD:1561673 613781 HGNC:28924 "ENST00000396496.7|NM_176816.5" +HGNC:28924 CCDC125 coiled-coil domain containing 125 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 KENAE 2006-08-09 2023-01-20 202243 ENSG00000183323 OTTHUMG00000131259 uc003jvv.2 AB024691 NM_176816 "CCDS4000|CCDS75255" Q86Z20 MGI:1923291 RGD:1561673 613781 HGNC:28924 "ENST00000396496.7|NM_176816.5" HGNC:22398 CCDC126 coiled-coil domain containing 126 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 FLJ23031 2006-08-15 2023-01-20 90693 ENSG00000169193 OTTHUMG00000128461 uc003swl.3 BC012427 NM_138771 CCDS5384 Q96EE4 31934309 MGI:1889376 RGD:1561171 HGNC:22398 "ENST00000307471.8|NM_138771.4" HGNC:30520 CCDC127 coiled-coil domain containing 127 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 FLJ25701 2006-08-18 2023-01-20 133957 ENSG00000164366 OTTHUMG00000161586 uc003jam.2 AK098567 NM_145265 CCDS3852 Q96BQ5 26873636 MGI:1914683 RGD:735106 HGNC:30520 "ENST00000296824.4|NM_145265.3" HGNC:26185 CCDC134 coiled-coil domain containing 134 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 FLJ22349 2006-10-17 2023-01-20 79879 ENSG00000100147 OTTHUMG00000151262 uc003bbh.2 AL021453 NM_024821 "CCDS77680|CCDS33654" Q9H6E4 "18087676|29115376" MGI:1923707 RGD:1559657 618788 HGNC:26185 "ENST00000255784.6|NM_024821.5" HGNC:26185 -HGNC:22225 CCDC136 coiled-coil domain containing 136 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "KIAA1793|NAG6|DKFZP434G156" 2007-05-02 2023-01-20 64753 ENSG00000128596 OTTHUMG00000158310 uc003vnv.3 NM_022742 "CCDS94193|CCDS56510|CCDS47704" Q96JN2 15112360 MGI:1918128 RGD:1564459 611902 HGNC:22225 "ENST00000297788.9|NM_022742.5" +HGNC:22225 CCDC136 coiled-coil domain containing 136 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "KIAA1793|NAG6|DKFZP434G156" 2007-05-02 2023-01-20 64753 ENSG00000128596 OTTHUMG00000158310 uc003vnv.3 NM_022742 "CCDS47704|CCDS94193|CCDS56510" Q96JN2 15112360 MGI:1918128 RGD:1564459 611902 HGNC:22225 "ENST00000297788.9|NM_022742.5" HGNC:33451 CCDC137 coiled-coil domain containing 137 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 MGC16597 2007-05-02 2023-01-20 339230 ENSG00000185298 OTTHUMG00000178064 uc002kbc.5 BC009369 NM_199287 CCDS42400 Q6PK04 MGI:1914541 RGD:1591129 614271 HGNC:33451 "ENST00000329214.13|NM_199287.3" HGNC:33459 CCDC137P1 CCDC137 pseudogene 1 pseudogene pseudogene Approved 3p13 03p13 CCDC137P coiled-coil domain containing 137 pseudogene 2007-07-19 2022-10-19 2022-10-19 2022-10-19 642802 ENSG00000242609 OTTHUMG00000158786 NG_009746 PGOHUM00000299466 HGNC:33459 HGNC:56429 CCDC137P2 CCDC137 pseudogene 2 pseudogene pseudogene Approved 3p13 03p13 2022-10-19 2022-10-19 127379757 ENSG00000239350 NG_115735 PGOHUM00000299465 -HGNC:26531 CCDC138 coiled-coil domain containing 138 protein-coding gene gene with protein product Approved 2q13 02q13 FLJ32745 2007-05-02 2023-01-20 165055 ENSG00000163006 OTTHUMG00000130980 uc002ten.2 AK057307 NM_144978 "CCDS2080|CCDS77447" Q96M89 28596423 MGI:1923388 RGD:1566050 HGNC:26531 "ENST00000295124.9|NM_144978.3" +HGNC:26531 CCDC138 coiled-coil domain containing 138 protein-coding gene gene with protein product Approved 2q13 02q13 FLJ32745 2007-05-02 2023-01-20 165055 ENSG00000163006 OTTHUMG00000130980 uc002ten.2 AK057307 NM_144978 "CCDS77447|CCDS2080" Q96M89 28596423 MGI:1923388 RGD:1566050 HGNC:26531 "ENST00000295124.9|NM_144978.3" HGNC:26514 CCDC140 CCDC140 long non-coding RNA non-coding RNA RNA, long non-coding Approved 2q36.1 02q36.1 FLJ32447 "coiled-coil domain containing 140|CCDC140 lncRNA" Long non-coding RNAs with non-systematic symbols 1992 2007-07-10 2019-12-18 2023-03-15 151278 ENSG00000163081 OTTHUMG00000133154 uc002vnb.1 AK057009 NR_161172 Q96MF4 HGNC:26514 HGNC:26821 CCDC141 coiled-coil domain containing 141 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "FLJ39502|CAMDI" coiled-coil protein associated with myosin II and DISC1 Immunoglobulin like domain containing 594 2007-07-10 2023-03-15 285025 ENSG00000163492 OTTHUMG00000132578 uc002une.2 AK096821 NM_173648 CCDS82538 Q6ZP82 20956536 MGI:1919735 RGD:1593250 616031 HGNC:26821 "ENST00000443758.7|NM_173648.4" HGNC:26821 -HGNC:25889 CCDC142 coiled-coil domain containing 142 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 FLJ14397 2007-07-17 2023-01-20 84865 ENSG00000135637 OTTHUMG00000129962 uc002slq.4 AK075543 NM_032779 "CCDS92784|CCDS1945" Q17RM4 MGI:3045292 RGD:1561779 HGNC:25889 "ENST00000393965.8|NM_001365575.2" +HGNC:25889 CCDC142 coiled-coil domain containing 142 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 FLJ14397 2007-07-17 2023-01-20 84865 ENSG00000135637 OTTHUMG00000129962 uc002slq.4 AK075543 NM_032779 "CCDS1945|CCDS92784" Q17RM4 MGI:3045292 RGD:1561779 HGNC:25889 "ENST00000393965.8|NM_001365575.2" HGNC:29072 CCDC144A coiled-coil domain containing 144A protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "KIAA0565|FLJ43983" 2007-08-06 2023-01-20 9720 ENSG00000170160 OTTHUMG00000059178 uc002gqk.2 BC133019 NM_014695 "CCDS92264|CCDS45621" A2RUR9 "9628581|11997339" 619413 HGNC:29072 "ENST00000399273.5|NM_001382000.1" HGNC:26704 CCDC144BP coiled-coil domain containing 144B, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 FLJ36492 CCDC144B "coiled-coil domain containing 144B|coiled-coil domain containing 144B (pseudogene)" 2007-08-07 2022-04-25 2022-04-25 2022-04-25 284047 ENSG00000154874 OTTHUMG00000059531 AK093811 NR_036647 Q3MJ40 11997339 HGNC:26704 HGNC:29073 CCDC144CP coiled-coil domain containing 144C, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 CCDC144C coiled-coil domain containing 144C 2007-08-06 2013-03-14 2013-03-14 2013-03-14 348254 ENSG00000154898 OTTHUMG00000059513 NR_023380 Q8IYA2 11997339 RGD:1585492 HGNC:29073 @@ -3657,14 +3657,14 @@ HGNC:51340 CCDC144NL-AS1 CCDC144NL antisense RNA 1 non-coding RNA RNA, long non- HGNC:29296 CCDC146 coiled-coil domain containing 146 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "KIAA1505|MBO2" 2007-12-06 2023-01-20 57639 ENSG00000135205 OTTHUMG00000162595 uc003uga.3 BC029458 NM_020879 CCDS34671 Q8IYE0 "10819331|25074808" MGI:1922422 RGD:1559535 619829 HGNC:29296 "ENST00000285871.5|NM_020879.3" HGNC:29296 HGNC:25191 CCDC148 coiled-coil domain containing 148 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 MGC125588 2007-12-07 2023-03-15 130940 ENSG00000153237 OTTHUMG00000153973 uc002tzq.4 NM_138803 "CCDS33304|CCDS77476" Q8NFR7 MGI:3039583 RGD:1561169 HGNC:25191 "ENST00000283233.10|NM_138803.4" HGNC:44134 CCDC148-AS1 CCDC148 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.1 02q24.1 CCDC148 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 554201 ENSG00000227480 OTTHUMG00000153964 uc021vro.1 BC021739 NR_038850 CCDC148-AS1 HGNC:44134 -HGNC:25405 CCDC149 coiled-coil domain containing 149 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 DKFZp761B107 2008-03-03 2023-01-20 91050 ENSG00000181982 OTTHUMG00000160308 uc011bxr.3 NM_173463 "CCDS33967|CCDS47036" Q6ZUS6 17457313 MGI:2685293 RGD:1582968 HGNC:25405 "ENST00000635206.3|NM_001395273.1" +HGNC:25405 CCDC149 coiled-coil domain containing 149 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 DKFZp761B107 2008-03-03 2023-01-20 91050 ENSG00000181982 OTTHUMG00000160308 uc011bxr.3 NM_173463 "CCDS47036|CCDS33967" Q6ZUS6 17457313 MGI:2685293 RGD:1582968 HGNC:25405 "ENST00000635206.3|NM_001395273.1" HGNC:26834 CCDC150 coiled-coil domain containing 150 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ39660 2008-04-10 2023-01-20 284992 ENSG00000144395 OTTHUMG00000154475 uc002utp.1 NM_001080539 CCDS46478 Q8NCX0 MGI:1925266 RGD:1304775 HGNC:26834 "ENST00000389175.9|NM_001080539.2" HGNC:50280 CCDC150P1 coiled-coil domain containing 150 pseudogene 1 pseudogene pseudogene Approved 12q24.31 12q24.31 2014-03-26 2020-01-21 100420678 ENSG00000256304 OTTHUMG00000168923 NG_024048 PGOHUM00000239595 HGNC:50280 HGNC:34438 CCDC152 coiled-coil domain containing 152 protein-coding gene gene with protein product Approved 5p12 05p12 LOC100129792 2008-07-14 2023-01-20 100129792 ENSG00000198865 OTTHUMG00000162141 uc003jmx.4 NM_001134848 CCDS47203 Q4G0S7 MGI:3641617 RGD:1561503 HGNC:34438 "ENST00000361970.10|NM_001134848.2" HGNC:27446 CCDC153 coiled-coil domain containing 153 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 LOC283152 2008-07-18 2023-03-15 283152 ENSG00000248712 OTTHUMG00000156903 uc058ihz.1 NM_001033658 CCDS44753 Q494R4 12477932 MGI:2448587 RGD:1305351 HGNC:27446 "ENST00000503566.7|NM_001145018.3" HGNC:34454 CCDC154 coiled-coil domain containing 154 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 LOC645811 C16orf29 chromosome 16 open reading frame 29 2008-08-07 2023-01-20 645811 ENSG00000197599 OTTHUMG00000154097 uc059oxj.1 NM_001143980 CCDS92082 A6NI56 MGI:2685163 RGD:1559998 618740 HGNC:34454 "ENST00000389176.4|NM_001143980.3" -HGNC:33854 CCDC157 coiled-coil domain containing 157 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 2009-03-05 2023-01-20 550631 ENSG00000187860 OTTHUMG00000151007 uc011akv.3 BC018040 NM_001017437 "CCDS33632|CCDS82707" Q569K6 "30741974|31488582" MGI:3041210 RGD:1584653 619391 HGNC:33854 "ENST00000338306.8|NM_001017437.5" -HGNC:26374 CCDC158 coiled-coil domain containing 158 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 FLJ25770 2009-04-06 2023-01-20 339965 ENSG00000163749 OTTHUMG00000160916 uc003hkb.5 BC035224 NM_001042784 "CCDS43242|CCDS93551" Q5M9N0 12477932 MGI:2444555 RGD:1308523 HGNC:26374 "ENST00000682701.1|NM_001394954.1" +HGNC:33854 CCDC157 coiled-coil domain containing 157 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 2009-03-05 2023-01-20 550631 ENSG00000187860 OTTHUMG00000151007 uc011akv.3 BC018040 NM_001017437 "CCDS82707|CCDS33632" Q569K6 "30741974|31488582" MGI:3041210 RGD:1584653 619391 HGNC:33854 "ENST00000338306.8|NM_001017437.5" +HGNC:26374 CCDC158 coiled-coil domain containing 158 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 FLJ25770 2009-04-06 2023-01-20 339965 ENSG00000163749 OTTHUMG00000160916 uc003hkb.5 BC035224 NM_001042784 "CCDS93551|CCDS43242" Q5M9N0 12477932 MGI:2444555 RGD:1308523 HGNC:26374 "ENST00000682701.1|NM_001394954.1" HGNC:26996 CCDC159 coiled-coil domain containing 159 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2009-09-28 2023-01-20 126075 ENSG00000183401 OTTHUMG00000182022 uc010xlt.3 BC038439 NM_001080503 CCDS45976 P0C7I6 MGI:1914369 RGD:1308031 HGNC:26996 "ENST00000458408.6|NM_001080503.3" HGNC:37286 CCDC160 coiled-coil domain containing 160 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 2009-09-28 2023-01-20 347475 ENSG00000203952 OTTHUMG00000164183 uc065bea.1 BC017958 NM_001101357 CCDS48171 A6NGH7 MGI:3588225 RGD:1597791 HGNC:37286 "ENST00000695460.1|NM_001353453.3" HGNC:21565 CCDC162P coiled-coil domain containing 162, pseudogene pseudogene pseudogene Approved 6q21 06q21 "bA425D10.7|bA425D10.3|bA487F23.3" "C6orf184|C6orf185|CCDC162|C6orf183" "chromosome 6 open reading frame 184|chromosome 6 open reading frame 185|chromosome 6 open reading frame 183" 2003-11-26 2011-04-28 2011-04-28 2017-12-04 221262 ENSG00000203799 OTTHUMG00000015342 NR_028595 MGI:1923223 RGD:7514220 HGNC:21565 @@ -3677,19 +3677,19 @@ HGNC:38866 CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough other readthrough Approved HGNC:21177 CCDC170 coiled-coil domain containing 170 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "FLJ23305|bA282P11.1" C6orf97 chromosome 6 open reading frame 97 2003-05-22 2012-03-26 2012-03-26 2023-01-20 80129 ENSG00000120262 OTTHUMG00000015839 uc003qol.4 AK026958 NM_025059 CCDS43515 Q8IYT3 28687497 MGI:2685067 RGD:1310945 HGNC:21177 "ENST00000239374.8|NM_025059.4" HGNC:29828 CCDC171 coiled-coil domain containing 171 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 "FLJ39267|FLJ46740|Em:AL513423.1|bA778P13.1|bA536D16.1" myosin tail domain containing protein C9orf93 chromosome 9 open reading frame 93 2004-03-01 2012-03-26 2012-03-26 2023-01-20 203238 ENSG00000164989 OTTHUMG00000019584 uc003zmd.4 AY422473 NM_173550 CCDS6481 Q6TFL3 14702039 MGI:1922152 RGD:1560884 HGNC:29828 "ENST00000380701.8|NM_173550.4" HGNC:30524 CCDC172 coiled-coil domain containing 172 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 MGC35062 C10orf96 chromosome 10 open reading frame 96 2004-04-07 2012-05-31 2012-05-31 2023-01-20 374355 ENSG00000182645 OTTHUMG00000019098 uc001lck.3 BC044830 NM_198515 CCDS31291 P0C7W6 24394471 MGI:1922895 RGD:1359412 HGNC:30524 "ENST00000333254.4|NM_198515.3" -HGNC:28033 CCDC174 coiled-coil domain containing 174 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "FLJ33839|ctr1" C3orf19 chromosome 3 open reading frame 19 2005-01-10 2012-09-20 2012-09-20 2023-01-20 51244 ENSG00000154781 OTTHUMG00000129837 uc003byw.4 AF151046 NM_016474 "CCDS93219|CCDS2620" Q6PII3 11042152 MGI:2444652 RGD:1305225 616735 470042 HGNC:28033 "ENST00000383794.7|NM_016474.5" HGNC:28033 +HGNC:28033 CCDC174 coiled-coil domain containing 174 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "FLJ33839|ctr1" C3orf19 chromosome 3 open reading frame 19 2005-01-10 2012-09-20 2012-09-20 2023-01-20 51244 ENSG00000154781 OTTHUMG00000129837 uc003byw.4 AF151046 NM_016474 "CCDS2620|CCDS93219" Q6PII3 11042152 MGI:2444652 RGD:1305225 616735 470042 HGNC:28033 "ENST00000383794.7|NM_016474.5" HGNC:28033 HGNC:19847 CCDC175 coiled-coil domain containing 175 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 C14orf38 chromosome 14 open reading frame 38 2002-11-27 2012-09-24 2012-09-24 2023-01-20 729665 ENSG00000151838 OTTHUMG00000171096 uc021rtw.2 NM_001164399 CCDS53898 P0C221 MGI:1921186 RGD:1560894 HGNC:19847 "ENST00000537690.7|NM_001164399.2" HGNC:23243 CCDC177 coiled-coil domain containing 177 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 PLPL myelin proteolipid protein-like protein C14orf162 chromosome 14 open reading frame 162 2003-10-29 2012-10-03 2012-10-03 2023-03-15 56936 ENSG00000267909 OTTHUMG00000187379 uc010aqy.5 AF284217 NM_001271507 CCDS59245 Q9NQR7 MGI:2686414 RGD:1561115 HGNC:23243 "ENST00000599174.3|NM_001271507.2" -HGNC:29588 CCDC178 coiled-coil domain containing 178 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 FLJ44050 C18orf34 chromosome 18 open reading frame 34 2004-06-02 2012-10-15 2012-10-15 2023-01-20 374864 ENSG00000166960 OTTHUMG00000132279 uc002kxo.3 AK126038 NM_198995 "CCDS77174|CCDS42424|CCDS11906" Q5BJE1 MGI:1918200 RGD:1308160 HGNC:29588 "ENST00000383096.8|NM_001105528.4" +HGNC:29588 CCDC178 coiled-coil domain containing 178 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 FLJ44050 C18orf34 chromosome 18 open reading frame 34 2004-06-02 2012-10-15 2012-10-15 2023-01-20 374864 ENSG00000166960 OTTHUMG00000132279 uc002kxo.3 AK126038 NM_198995 "CCDS11906|CCDS42424|CCDS77174" Q5BJE1 MGI:1918200 RGD:1308160 HGNC:29588 "ENST00000383096.8|NM_001105528.4" HGNC:44653 CCDC179 coiled-coil domain containing 179 protein-coding gene gene with protein product Approved 11p14.3 11p14.3 2012-12-12 2023-01-20 100500938 ENSG00000255359 OTTHUMG00000166074 uc021qfb.3 NM_001195637 CCDS58127 H3BU77 MGI:1922779 RGD:1559980 HGNC:44653 "ENST00000532798.3|NM_001195637.2" HGNC:29303 CCDC180 coiled-coil domain containing 180 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "DKFZp434I2420|BDAG1|FAP76|CFAP76" Behcet's Disease Associated Gene 1 "KIAA1529|C9orf174" "KIAA1529|chromosome 9 open reading frame 174" Cilia and flagella associated 1491 2004-01-05 2013-03-08 2013-03-08 2023-01-20 100499483 ENSG00000197816 OTTHUMG00000167001 uc004axg.3 AK123391 NM_020893 CCDS35077 Q9P1Z9 10819331 MGI:2685871 RGD:6498132 HGNC:29303 "ENST00000529487.3|NM_020893.6" -HGNC:28051 CCDC181 coiled-coil domain containing 181 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 FLJ25846 C1orf114 chromosome 1 open reading frame 114 2005-06-09 2013-03-14 2013-03-14 2023-01-20 57821 ENSG00000117477 OTTHUMG00000035448 uc009wvq.2 AL049687 NM_021179 "CCDS1279|CCDS72979" Q5TID7 MGI:1922145 RGD:1309708 HGNC:28051 "ENST00000367806.8|NM_001300969.2" +HGNC:28051 CCDC181 coiled-coil domain containing 181 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 FLJ25846 C1orf114 chromosome 1 open reading frame 114 2005-06-09 2013-03-14 2013-03-14 2023-01-20 57821 ENSG00000117477 OTTHUMG00000035448 uc009wvq.2 AL049687 NM_021179 "CCDS72979|CCDS1279" Q5TID7 MGI:1922145 RGD:1309708 HGNC:28051 "ENST00000367806.8|NM_001300969.2" HGNC:49392 CCDC182 coiled-coil domain containing 182 protein-coding gene gene with protein product Approved 17q22 17q22 2013-11-05 2023-01-20 101927581 ENSG00000166329 OTTHUMG00000132063 NM_001282544 CCDS62263 A6NF36 MGI:1921547 RGD:1586338 HGNC:49392 "ENST00000299415.3|NM_001282544.2" HGNC:28236 CCDC183 coiled-coil domain containing 183 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MGC15438|bA216L13.7" KIAA1984 KIAA1984 2004-02-19 2013-12-06 2013-12-06 2023-03-15 84960 ENSG00000213213 OTTHUMG00000159445 AB075864 NM_032874 CCDS43906 Q5T5S1 11853319 MGI:1924308 RGD:1560370 615955 HGNC:28236 "ENST00000338005.7|NM_001039374.5" HGNC:44105 CCDC183-AS1 CCDC183 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 KIAA1984-AS1 "KIAA1984 antisense RNA 1 (non-protein coding)|KIAA1984 antisense RNA 1" Antisense RNAs 1987 2012-06-28 2013-12-06 2013-12-06 2013-12-06 100131193 ENSG00000228544 OTTHUMG00000020946 AK055547 NR_024580 CCDC183-AS1 HGNC:44105 HGNC:33749 CCDC184 coiled-coil domain containing 184 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 LOC387856 C12orf68 chromosome 12 open reading frame 68 2008-07-25 2014-03-19 2014-03-19 2023-01-20 387856 ENSG00000177875 OTTHUMG00000169902 NM_001013635 CCDS31785 Q52MB2 MGI:2146066 RGD:1593153 HGNC:33749 "ENST00000316554.5|NM_001013635.4" HGNC:26654 CCDC185 coiled-coil domain containing 185 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ35728 C1orf65 chromosome 1 open reading frame 65 2005-05-17 2014-04-11 2014-04-11 2023-01-20 164127 ENSG00000178395 OTTHUMG00000037987 AK093047 NM_152610 CCDS1537 Q8N715 12477932 MGI:3618292 RGD:1560145 HGNC:26654 "ENST00000366875.5|NM_152610.3" -HGNC:24349 CCDC186 coiled-coil domain containing 186 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ10188|FLJ35301|CCCP-1|golgin104" C10orf118 chromosome 10 open reading frame 118 MicroRNA protein coding host genes 1691 2004-04-20 2014-05-30 2014-05-30 2023-01-20 55088 ENSG00000165813 OTTHUMG00000019081 AL834368 NM_018017 "CCDS81506|CCDS7587" Q7Z3E2 "12783626|25453831|33807583" MGI:2445022 RGD:1307158 619249 HGNC:24349 "ENST00000369287.8|NM_018017.4" +HGNC:24349 CCDC186 coiled-coil domain containing 186 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ10188|FLJ35301|CCCP-1|golgin104" C10orf118 chromosome 10 open reading frame 118 MicroRNA protein coding host genes 1691 2004-04-20 2014-05-30 2014-05-30 2023-01-20 55088 ENSG00000165813 OTTHUMG00000019081 AL834368 NM_018017 "CCDS7587|CCDS81506" Q7Z3E2 "12783626|25453831|33807583" MGI:2445022 RGD:1307158 619249 HGNC:24349 "ENST00000369287.8|NM_018017.4" HGNC:30942 CCDC187 coiled-coil domain containing 187 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC50722 2015-09-17 2023-01-20 399693 ENSG00000260220 OTTHUMG00000188591 NM_001291516 "CCDS78462|CCDS94533" A0A096LP49 25751143 MGI:3045295 RGD:1565512 HGNC:30942 "ENST00000638797.2|NM_001378188.1" HGNC:51899 CCDC188 coiled-coil domain containing 188 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2015-09-17 2023-01-20 388849 ENSG00000234409 OTTHUMG00000150751 NM_001365892 CCDS93123 H7C350 MGI:3647803 RGD:1563782 HGNC:51899 "ENST00000439765.4|NM_001365892.2" HGNC:56303 CCDC188BP coiled-coil domain containing 188B, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 2022-08-24 2022-08-24 107985555 ENSG00000248409 PGOHUM00000306014 @@ -3699,15 +3699,15 @@ HGNC:49566 CCDC192 coiled-coil domain containing 192 protein-coding gene gene wi HGNC:53438 CCDC194 coiled-coil domain containing 194 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 2017-04-07 2017-04-07 110806280 ENSG00000269720 OTTHUMG00000191663 NM_001395221 A0A1B0GVG4 MGI:3588239 RGD:11373735 HGNC:53438 "ENST00000636079.2|NM_001395222.1" HGNC:53441 CCDC195 coiled-coil domain containing 195 protein-coding gene gene with protein product Approved 2q36.2 02q36.2 2017-04-13 2017-04-13 110806281 ENSG00000283428 OTTHUMG00000191764 NM_001395236 A0A1B0GUA6 "ENST00000638102.1|NM_001395236.1" HGNC:20100 CCDC196 coiled-coil domain containing 196 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "C14orf53|NCRNA00238|LINC00238" "chromosome 14 open reading frame 53|non-protein coding RNA 238|long intergenic non-protein coding RNA 238" 2002-12-18 2017-05-18 2017-05-18 2023-01-20 440184 ENSG00000196553 OTTHUMG00000029779 uc059cnh.1 NM_001351576 CCDS86402 A0A1B0GTZ2 MGI:3645257 RGD:1562540 LINC00238 HGNC:20100 "ENST00000636229.1|NM_001351576.1" -HGNC:19860 CCDC197 coiled-coil domain containing 197 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "LINC00521|C14orf48" "long intergenic non-protein coding RNA 521|chromosome 14 open reading frame 48" 2002-11-27 2017-05-31 2017-05-31 2023-03-15 256369 ENSG00000175699 OTTHUMG00000156974 uc001ycg.2 BI463117 NM_001351596 "CCDS91922|CCDS86426" Q8NCU1 LINC00521 HGNC:19860 "ENST00000636493.2|NM_001351596.2" -HGNC:20189 CCDC198 coiled-coil domain containing 198 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 FLJ10650 C14orf105 chromosome 14 open reading frame 105 2002-12-20 2017-07-07 2017-07-07 2023-06-01 55195 ENSG00000100557 OTTHUMG00000140317 uc001xcy.4 AK001512 NM_018168 "CCDS61459|CCDS61458|CCDS9730" Q9NVL8 29526398 MGI:1914332 RGD:7568824 HGNC:20189 "ENST00000216445.8|NM_018168.4" +HGNC:19860 CCDC197 coiled-coil domain containing 197 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "LINC00521|C14orf48" "long intergenic non-protein coding RNA 521|chromosome 14 open reading frame 48" 2002-11-27 2017-05-31 2017-05-31 2023-03-15 256369 ENSG00000175699 OTTHUMG00000156974 uc001ycg.2 BI463117 NM_001351596 "CCDS86426|CCDS91922" Q8NCU1 LINC00521 HGNC:19860 "ENST00000636493.2|NM_001351596.2" +HGNC:20189 CCDC198 coiled-coil domain containing 198 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "FLJ10650|FAME" Factor Associated with Metabolism and Energy C14orf105 chromosome 14 open reading frame 105 2002-12-20 2017-07-07 2017-07-07 2023-06-08 55195 ENSG00000100557 OTTHUMG00000140317 uc001xcy.4 AK001512 NM_018168 "CCDS61458|CCDS9730|CCDS61459" Q9NVL8 "29526398|37248239" MGI:1914332 RGD:7568824 HGNC:20189 "ENST00000216445.8|NM_018168.4" HGNC:43658 CCDC200 coiled-coil domain containing 200 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "TMEM106A-AS1|LINC00854" "TMEM106A antisense RNA 1 (non-protein coding)|TMEM106A antisense RNA 1|TMEM106A antisense RNA 1 (tail to tail)|long intergenic non-protein coding RNA 854" 2012-01-23 2018-06-14 2018-06-14 2023-01-20 100874261 ENSG00000236383 OTTHUMG00000132641 uc060fso.1 NM_001363254 CCDS92329 A0A1B0GVQ3 22196729 MGI:3650266 RGD:7612562 LINC00854 HGNC:43658 "ENST00000636331.2|NM_001363254.2" HGNC:54081 CCDC201 coiled-coil domain containing 201 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 2019-03-21 2019-03-21 114515518 ENSG00000283247 OTTHUMG00000191722 NM_001395235 A0A1B0GTI1 MGI:3650614 "ENST00000636578.2|NM_001395235.1" HGNC:55988 CCDST cervical cancer associated DHX9 suppressive transcript non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 "AL589986.2|lnc-CCDST" cervical cancer DExH-box helicase 9 (DHX9) suppressive transcript LINC02962 long intergenic non-protein coding RNA 2962 Long non-coding RNAs with non-systematic symbols 1992 2021-11-15 2022-08-18 2022-08-18 2022-08-18 112268240 ENSG00000236427 "33146560|30518908" HGNC:51693 CCEPR cervical carcinoma expressed PCNA regulatory lncRNA non-coding RNA RNA, long non-coding Approved 10q21.1 10q21.1 CCHE1 cervical carcinoma high-expressed lncRNA 1 Long non-coding RNAs with non-systematic symbols 1992 2015-08-27 2015-12-04 2015-12-04 105682749 NR_131782 25921283 HGNC:51693 HGNC:28373 CCER1 coiled-coil glutamate rich protein 1 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 MGC26598 C12orf12 "chromosome 12 open reading frame 12|coiled-coil glutamate-rich protein 1" 2005-02-25 2012-05-30 2015-11-05 2023-01-20 196477 ENSG00000197651 OTTHUMG00000170070 uc001tbj.3 BC024183 NM_152638 CCDS9036 Q8TC90 17967063 MGI:1913966 RGD:1560042 HGNC:28373 "ENST00000358859.3|NM_152638.4" HGNC:44662 CCER2 coiled-coil glutamate rich protein 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 coiled-coil glutamate-rich protein 2 2014-01-02 2015-11-05 2023-01-20 643669 ENSG00000262484 OTTHUMG00000177374 NM_001243212 CCDS58661 I3L3R5 MGI:3645242 RGD:6502457 617634 HGNC:44662 "ENST00000571838.2|NM_001243212.2" -HGNC:13930 CCHCR1 coiled-coil alpha-helical rod protein 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 HCR C6orf18 chromosome 6 open reading frame 18 2002-11-18 2005-02-16 2005-02-15 2023-01-20 54535 ENSG00000204536 OTTHUMG00000031112 uc003nsr.4 AF216493 NM_019052 "CCDS43445|CCDS4695|CCDS47397" Q8TD31 "10888604|10545595" MGI:2385321 RGD:1302992 605310 HGNC:13930 "ENST00000396268.8|NM_001105564.2" +HGNC:13930 CCHCR1 coiled-coil alpha-helical rod protein 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 HCR C6orf18 chromosome 6 open reading frame 18 2002-11-18 2005-02-16 2005-02-15 2023-01-20 54535 ENSG00000204536 OTTHUMG00000031112 uc003nsr.4 AF216493 NM_019052 "CCDS4695|CCDS43445|CCDS47397" Q8TD31 "10888604|10545595" MGI:2385321 RGD:1302992 605310 HGNC:13930 "ENST00000396268.8|NM_001105564.2" HGNC:1568 CCIN calicin protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "KBTBD14|BTBD20" BTB domain containing 861 1998-03-25 2023-01-20 881 ENSG00000185972 OTTHUMG00000019901 uc003zzb.5 Z46967 NM_005893 CCDS6599 Q13939 7641791 MGI:3045316 RGD:1359369 603960 HGNC:1568 "ENST00000335119.4|NM_005893.3" HGNC:1569 CCK cholecystokinin protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "prepro-cholecystokinin|cholecystokinin triacontatriapeptide" Neuropeptides 1902 2001-06-22 2023-01-20 885 ENSG00000187094 OTTHUMG00000131796 uc003cld.2 NM_000729 CCDS2696 P06307 3856870 MGI:88297 RGD:2288 118440 ligandId:3552 HGNC:1569 "ENST00000396169.7|NM_000729.6" HGNC:1570 CCKAR cholecystokinin A receptor protein-coding gene gene with protein product Approved 4p15.2 04p15.2 Cholecystokinin receptors 224 1993-07-13 2023-01-20 886 ENSG00000163394 OTTHUMG00000128567 uc003gse.2 L19315 NM_000730 CCDS3438 P32238 MGI:99478 RGD:2289 118444 objectId:76 HGNC:1570 "ENST00000295589.4|NM_000730.3" @@ -3721,36 +3721,36 @@ HGNC:30554 CCL3L3 C-C motif chemokine ligand 3 like 3 protein-coding gene gene w HGNC:10629 CCL3P1 C-C motif chemokine ligand 3 pseudogene 1 pseudogene pseudogene Approved 17q12 alternate reference locus 17q12 alternate reference locus LD78gamma "SCYA3L2|CCL3L2" "small inducible cytokine A3-like 2|chemokine (C-C motif) ligand 3-like 2|chemokine (C-C motif) ligand 3 pseudogene 1" 1995-07-11 2010-10-11 2016-03-01 2020-04-20 390788 D12592 NG_004113 1296815 609467 HGNC:10630 CCL4 C-C motif chemokine ligand 4 protein-coding gene gene with protein product Approved 17q12 17q12 "MIP-1-beta|Act-2|AT744.1" "LAG1|SCYA4" "small inducible cytokine A4 (homologous to mouse Mip-1b)|chemokine (C-C motif) ligand 4" Chemokine ligands 483 1990-07-05 2002-08-23 2016-03-01 2023-01-20 6351 ENSG00000275302 OTTHUMG00000188414 uc002hkw.3 M23502 NM_002984 CCDS11308 P13236 1972563 MGI:98261 RGD:620441 182284 ligandId:757 HGNC:10630 "ENST00000615863.2|NM_002984.4" HGNC:10631 CCL4L1 C-C motif chemokine ligand 4 like 1 protein-coding gene gene with protein product Approved 17q12 alternate reference locus 17q12 alternate reference locus "AT744.2|LAG-1" "SCYA4L|CCL4L" "small inducible cytokine A4-like|chemokine (C-C motif) ligand 4-like|chemokine (C-C motif) ligand 4-like 1" Chemokine ligands 483 1999-05-17 2005-04-27 2016-03-01 2023-03-15 388372 X53682 NM_207007 Q8NHW4 "8661057|1972563|15028295" MGI:98261 603782 -HGNC:24066 CCL4L2 C-C motif chemokine ligand 4 like 2 protein-coding gene gene with protein product Approved 17q12 17q12 chemokine (C-C motif) ligand 4-like 2 Chemokine ligands 483 2005-04-27 2016-03-01 2023-01-20 9560 ENSG00000276070 OTTHUMG00000188420 uc060mpu.1 NM_001291468 "CCDS76999|CCDS77005|CCDS77000|CCDS77003|CCDS77004|CCDS77002|CCDS77001|CCDS32627" Q8NHW4 15028295 MGI:98261 610757 HGNC:24066 "ENST00000617405.5|NM_001291475.2" +HGNC:24066 CCL4L2 C-C motif chemokine ligand 4 like 2 protein-coding gene gene with protein product Approved 17q12 17q12 chemokine (C-C motif) ligand 4-like 2 Chemokine ligands 483 2005-04-27 2016-03-01 2023-01-20 9560 ENSG00000276070 OTTHUMG00000188420 uc060mpu.1 NM_001291468 "CCDS77000|CCDS76999|CCDS77005|CCDS77003|CCDS32627|CCDS77002|CCDS77001|CCDS77004" Q8NHW4 15028295 MGI:98261 610757 HGNC:24066 "ENST00000617405.5|NM_001291475.2" HGNC:10632 CCL5 C-C motif chemokine ligand 5 protein-coding gene gene with protein product Approved 17q12 17q12 "RANTES|SISd|TCP228|MGC17164" "T-cell specific protein p288|T-cell specific RANTES protein|SIS-delta|regulated upon activation, normally T-expressed, and presumably secreted|beta-chemokine RANTES|small inducible cytokine subfamily A (Cys-Cys), member 5" "D17S136E|SCYA5" "small inducible cytokine A5 (RANTES)|chemokine (C-C motif) ligand 5" Chemokine ligands 483 1990-07-05 2002-08-23 2016-03-01 2023-01-20 6352 ENSG00000271503 OTTHUMG00000188396 uc060eeh.1 AF043341 NM_002985 "CCDS92290|CCDS11300" P13501 1691736 MGI:98262 RGD:69069 187011 ligandId:758 HGNC:10632 "ENST00000651122.1|NM_001278736.2" HGNC:10634 CCL7 C-C motif chemokine ligand 7 protein-coding gene gene with protein product Approved 17q12 17q12 "MCP-3|NC28|FIC|MARC|MCP3" "monocyte chemoattractant protein 3|monocyte chemotactic protein 3" "SCYA6|SCYA7" "small inducible cytokine A7 (monocyte chemotactic protein 3)|chemokine (C-C motif) ligand 7" Chemokine ligands 483 1993-11-04 2002-08-23 2016-03-01 2023-01-20 6354 ENSG00000108688 OTTHUMG00000132889 uc002hhz.5 AF043338 NM_006273 CCDS11278 P80098 8461011 MGI:99512 RGD:1359152 158106 ligandId:759 HGNC:10634 "ENST00000378569.2|NM_006273.4" HGNC:10635 CCL8 C-C motif chemokine ligand 8 protein-coding gene gene with protein product Approved 17q12 17q12 "MCP-2|HC14" SCYA8 "small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)|chemokine (C-C motif) ligand 8" Chemokine ligands 483 1996-11-14 2002-08-23 2016-03-01 2023-01-20 6355 ENSG00000108700 OTTHUMG00000132883 uc002hib.4 X99886 NM_005623 CCDS11280 P80075 9119400 MGI:101878 602283 ligandId:772 HGNC:10635 "ENST00000394620.2|NM_005623.3" HGNC:10610 CCL11 C-C motif chemokine ligand 11 protein-coding gene gene with protein product Approved 17q12 17q12 "eotaxin|MGC22554" eotaxin-1 SCYA11 "small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)|chemokine (C-C motif) ligand 11" Chemokine ligands 483 1996-04-24 2002-08-23 2016-03-01 2023-01-20 6356 ENSG00000172156 OTTHUMG00000132884 uc002hia.2 AB063614 NM_002986 CCDS11279 P51671 9169149 MGI:103576 RGD:3644 601156 ligandId:769 HGNC:10610 "ENST00000305869.4|NM_002986.3" HGNC:10611 CCL13 C-C motif chemokine ligand 13 protein-coding gene gene with protein product Approved 17q12 17q12 "MCP-4|NCC-1|SCYL1|CKb10|MGC17134" SCYA13 "small inducible cytokine subfamily A (Cys-Cys), member 13|chemokine (C-C motif) ligand 13" Chemokine ligands 483 1997-02-11 2002-08-23 2016-03-01 2023-01-20 6357 ENSG00000181374 OTTHUMG00000132890 uc002hic.3 AJ001634 NM_005408 CCDS11281 Q99616 8661057 MGI:98259 RGD:1309255 601391 471038 ligandId:770 HGNC:10611 "ENST00000225844.7|NM_005408.3" -HGNC:10612 CCL14 C-C motif chemokine ligand 14 protein-coding gene gene with protein product Approved 17q12 17q12 "HCC-1|HCC-3|NCC-2|SCYL2|CKb1|MCIF" SCYA14 "small inducible cytokine subfamily A (Cys-Cys), member 14|chemokine (C-C motif) ligand 14" Chemokine ligands 483 1997-02-11 2002-08-23 2016-03-01 2023-01-20 6358 ENSG00000276409 OTTHUMG00000188403 uc010wcr.2 Z49270 NM_032962 "CCDS32624|CCDS45652" Q16627 8661057 601392 ligandId:753 HGNC:10612 "ENST00000618404.5|NM_032963.4" +HGNC:10612 CCL14 C-C motif chemokine ligand 14 protein-coding gene gene with protein product Approved 17q12 17q12 "HCC-1|HCC-3|NCC-2|SCYL2|CKb1|MCIF" SCYA14 "small inducible cytokine subfamily A (Cys-Cys), member 14|chemokine (C-C motif) ligand 14" Chemokine ligands 483 1997-02-11 2002-08-23 2016-03-01 2023-01-20 6358 ENSG00000276409 OTTHUMG00000188403 uc010wcr.2 Z49270 NM_032962 "CCDS45652|CCDS32624" Q16627 8661057 601392 ligandId:753 HGNC:10612 "ENST00000618404.5|NM_032963.4" HGNC:10613 CCL15 C-C motif chemokine ligand 15 protein-coding gene gene with protein product Approved 17q12 17q12 "HCC-2|NCC-3|SCYL3|MIP-5|Lkn-1|MIP-1d|HMRP-2B" "leukotactin 1|CC chemokine 3|macrophage inflammatory protein 5|chemokine CC-2|MIP-1 delta" SCYA15 "small inducible cytokine subfamily A (Cys-Cys), member 15|chemokine (C-C motif) ligand 15" Chemokine ligands 483 1997-02-11 2002-08-23 2016-03-01 2023-01-20 6359 ENSG00000275718 OTTHUMG00000188406 uc032gbw.1 AF031587 NM_004167 CCDS11304 Q16663 8661057 "MGI:98263|MGI:104533" RGD:1310563 601393 ligandId:754 HGNC:10613 "ENST00000617897.2|NM_032965.6" HGNC:44436 CCL15-CCL14 CCL15-CCL14 readthrough (NMD candidate) other readthrough Approved 17q12 17q12 2012-10-08 2013-05-09 2015-01-29 348249 ENSG00000275688 OTTHUMG00000188405 uc060eez.1 NR_027921 RGD:1303200 HGNC:44436 HGNC:10614 CCL16 C-C motif chemokine ligand 16 protein-coding gene gene with protein product Approved 17q12 17q12 "NCC-4|SCYL4|LEC|HCC-4|LMC|LCC-1|CKb12|Mtn-1" SCYA16 "small inducible cytokine subfamily A (Cys-Cys), member 16|chemokine (C-C motif) ligand 16" Chemokine ligands 483 1997-02-11 2002-08-23 2016-03-01 2023-01-20 6360 ENSG00000275152 OTTHUMG00000188402 uc032gbo.3 AB007454 NM_004590 CCDS11303 O15467 8661057 601394 ligandId:1272 HGNC:10614 "ENST00000611905.2|NM_004590.4" HGNC:10615 CCL17 C-C motif chemokine ligand 17 protein-coding gene gene with protein product Approved 16q21 16q21 "TARC|ABCD-2" SCYA17 "small inducible cytokine subfamily A (Cys-Cys), member 17|chemokine (C-C motif) ligand 17" Chemokine ligands 483 1996-10-26 2002-08-23 2016-03-01 2023-01-20 6361 ENSG00000102970 OTTHUMG00000133468 uc002elj.1 D43767 NM_002987 CCDS10780 Q92583 "8702936|9070951" MGI:1329039 RGD:619924 601520 ligandId:797 HGNC:10615 "ENST00000219244.9|NM_002987.3" HGNC:10616 CCL18 C-C motif chemokine ligand 18 protein-coding gene gene with protein product Approved 17q12 17q12 "DC-CK1|PARC|AMAC-1|DCCK1|MIP-4|CKb7" pulmonary and activation-regulated SCYA18 "small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated|chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)|chemokine (C-C motif) ligand 18" Chemokine ligands 483 1997-01-08 2002-08-23 2016-03-01 2023-01-20 6362 ENSG00000275385 OTTHUMG00000188410 uc002hku.4 Y13710 NM_002988 CCDS11306 P55774 "9233607|10049593" MGI:98260 603757 ligandId:4382 HGNC:10616 "ENST00000616054.2|NM_002988.4" HGNC:10617 CCL19 C-C motif chemokine ligand 19 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "ELC|MIP-3b|exodus-3|CKb11" "CC chemokine ligand 19|macrophage inflammatory protein 3-beta|beta chemokine exodus-3|CK beta-11|EBI1-ligand chemokine" SCYA19 "small inducible cytokine subfamily A (Cys-Cys), member 19|chemokine (C-C motif) ligand 19" Chemokine ligands 483 1997-02-19 2002-08-23 2016-03-01 2023-01-20 6363 ENSG00000172724 OTTHUMG00000019833 uc003zvn.4 AB000887 NM_006274 CCDS6570 Q99731 9153236 MGI:1346316 RGD:1310336 602227 ligandId:810 HGNC:10617 "ENST00000311925.7|NM_006274.3" -HGNC:10619 CCL20 C-C motif chemokine ligand 20 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "LARC|MIP-3a|exodus-1|ST38|CKb4" SCYA20 "small inducible cytokine subfamily A (Cys-Cys), member 20|chemokine (C-C motif) ligand 20" Chemokine ligands 483 1997-02-10 2002-08-23 2016-03-01 2023-01-20 6364 ENSG00000115009 OTTHUMG00000133189 uc002vpm.2 D86955 NM_004591 "CCDS46536|CCDS2469" P78556 "9038201|11352563" MGI:1329031 RGD:3646 601960 ligandId:808 HGNC:10619 "ENST00000358813.5|NM_004591.3" +HGNC:10619 CCL20 C-C motif chemokine ligand 20 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "LARC|MIP-3a|exodus-1|ST38|CKb4" SCYA20 "small inducible cytokine subfamily A (Cys-Cys), member 20|chemokine (C-C motif) ligand 20" Chemokine ligands 483 1997-02-10 2002-08-23 2016-03-01 2023-01-20 6364 ENSG00000115009 OTTHUMG00000133189 uc002vpm.2 D86955 NM_004591 "CCDS2469|CCDS46536" P78556 "9038201|11352563" MGI:1329031 RGD:3646 601960 ligandId:808 HGNC:10619 "ENST00000358813.5|NM_004591.3" HGNC:10620 CCL21 C-C motif chemokine ligand 21 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "SLC|exodus-2|TCA4|CKb9|6Ckine|ECL" "beta chemokine exodus-2|secondary lymphoid tissue chemokine|Efficient Chemoattractant for Lymphocytes" SCYA21 "small inducible cytokine subfamily A (Cys-Cys), member 21|chemokine (C-C motif) ligand 21" Chemokine ligands 483 1997-04-10 2002-08-23 2016-03-01 2023-01-20 6366 ENSG00000137077 OTTHUMG00000019838 uc003zvo.5 AB002409 NM_002989 CCDS6571 O00585 9235955 "MGI:1349183|MGI:1349182|MGI:3711256|MGI:3710514|MGI:5434896" RGD:1311996 602737 ligandId:811 HGNC:10620 "ENST00000259607.7|NM_002989.4" HGNC:10621 CCL22 C-C motif chemokine ligand 22 protein-coding gene gene with protein product Approved 16q21 16q21 "MDC|STCP-1|ABCD-1|DC/B-CK|A-152E5.1|MGC34554" SCYA22 "small inducible cytokine subfamily A (Cys-Cys), member 22|chemokine (C-C motif) ligand 22" Chemokine ligands 483 1997-08-22 2002-08-23 2016-03-01 2023-01-20 6367 ENSG00000102962 OTTHUMG00000133454 uc002elh.4 U83171 NM_002990 CCDS10778 O00626 "9151897|9691168" MGI:1306779 RGD:619933 602957 ligandId:798 HGNC:10621 "ENST00000219235.5|NM_002990.5" -HGNC:10622 CCL23 C-C motif chemokine ligand 23 protein-coding gene gene with protein product Approved 17q12 17q12 "Ckb-8|MPIF-1|MIP-3|CKb8" SCYA23 "small inducible cytokine subfamily A (Cys-Cys), member 23|chemokine (C-C motif) ligand 23" Chemokine ligands 483 1997-11-14 2002-08-23 2016-03-01 2023-01-20 6368 ENSG00000274736 OTTHUMG00000188409 uc002hks.3 U58913 "NM_005064|NM_145898" "CCDS11305|CCDS59282" P55773 "9104803|10409433" "MGI:98263|MGI:104533" 602494 ligandId:755 HGNC:10622 "ENST00000615050.2|NM_005064.6" +HGNC:10622 CCL23 C-C motif chemokine ligand 23 protein-coding gene gene with protein product Approved 17q12 17q12 "Ckb-8|MPIF-1|MIP-3|CKb8" SCYA23 "small inducible cytokine subfamily A (Cys-Cys), member 23|chemokine (C-C motif) ligand 23" Chemokine ligands 483 1997-11-14 2002-08-23 2016-03-01 2023-01-20 6368 ENSG00000274736 OTTHUMG00000188409 uc002hks.3 U58913 "NM_005064|NM_145898" "CCDS59282|CCDS11305" P55773 "9104803|10409433" "MGI:98263|MGI:104533" 602494 ligandId:755 HGNC:10622 "ENST00000615050.2|NM_005064.6" HGNC:10623 CCL24 C-C motif chemokine ligand 24 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "Ckb-6|MPIF-2|eotaxin-2|MPIF2" "CK-beta-6|myeloid progenitor inhibitory factor 2|eotaxin-2" SCYA24 "small inducible cytokine subfamily A (Cys-Cys), member 24|chemokine (C-C motif) ligand 24" Chemokine ligands 483 1997-11-14 2002-08-23 2016-03-01 2023-01-20 6369 ENSG00000106178 OTTHUMG00000156635 uc064emu.1 U85768 NM_002991 CCDS34670 O00175 "9104803|9598329" MGI:1928953 RGD:1310245 602495 ligandId:775 HGNC:10623 "ENST00000222902.7|NM_002991.3" HGNC:10624 CCL25 C-C motif chemokine ligand 25 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TECK|Ckb15" "Ck beta-15|thymus expressed chemokine|TECKvar" SCYA25 "small inducible cytokine subfamily A (Cys-Cys), member 25|chemokine (C-C motif) ligand 25" Chemokine ligands 483 1997-11-14 2002-08-23 2016-03-01 2023-03-15 6370 ENSG00000131142 OTTHUMG00000141287 uc060ssu.1 U86358 NM_005624 "CCDS56080|CCDS12194" O15444 "9285413|9722960" MGI:1099448 RGD:1305530 602565 ligandId:817 HGNC:10624 "ENST00000315626.6|NM_005624.4" HGNC:10625 CCL26 C-C motif chemokine ligand 26 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "MIP-4alpha|eotaxin-3|IMAC|MIP-4a|TSC-1" "macrophage inflammatory protein 4-alpha|small inducible cytokine A26|CC chemokine IMAC|chemokine N1|thymic stroma chemokine-1|eotaxin-3" SCYA26 "small inducible cytokine subfamily A (Cys-Cys), member 26|chemokine (C-C motif) ligand 26" Chemokine ligands 483 1999-06-09 2002-08-23 2016-03-01 2023-01-20 10344 ENSG00000006606 OTTHUMG00000130403 uc003udt.2 AF124601 NM_006072 CCDS5578 Q9Y258 10373330 MGI:3589281 RGD:1587817 604697 ligandId:776 HGNC:10625 "ENST00000005180.9|NM_001371938.1" HGNC:10626 CCL27 C-C motif chemokine ligand 27 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "ALP|ILC|CTACK|skinkine|ESkine|PESKY|CTAK" "CC chemokine ILC|IL-11 Ralpha-locus chemokine|cutaneous T-cell attracting chemokine" SCYA27 "small inducible cytokine subfamily A (Cys-Cys), member 27|chemokine (C-C motif) ligand 27" Chemokine ligands 483 1999-07-30 2002-08-23 2016-03-01 2023-01-20 10850 ENSG00000213927 OTTHUMG00000019834 uc003zvm.1 AJ243542 NM_006664 CCDS6569 Q9Y4X3 "10556532|10588729" "MGI:1343459|MGI:1891389|MGI:3713752" RGD:1304660 604833 ligandId:3646 HGNC:10626 "ENST00000259631.5|NM_006664.4" HGNC:17700 CCL28 C-C motif chemokine ligand 28 protein-coding gene gene with protein product Approved 5p12 05p12 "SCYA28|MEC|CCK1" "CC chemokine CCL28|mucosae-associated epithelial chemokine|small inducible cytokine subfamily A (Cys-Cys), member 28|small inducible cytokine A28" chemokine (C-C motif) ligand 28 Chemokine ligands 483 2002-08-22 2016-03-01 2023-01-20 56477 ENSG00000151882 OTTHUMG00000094811 uc003jnu.4 AF110384 NM_148672 "CCDS78006|CCDS3944" Q9NRJ3 "10781587|11295038" MGI:1861731 RGD:619937 605240 ligandId:3649 HGNC:17700 "ENST00000361115.4|NM_148672.3" -HGNC:21708 CCM2 CCM2 scaffold protein protein-coding gene gene with protein product Approved 7p13 07p13 "MGC4607|OSM" "malcavernin|osmosensing scaffold for MEKK3" C7orf22 "chromosome 7 open reading frame 22|cerebral cavernous malformation 2|CCM2 scaffolding protein" CCM adhesion complex 1940 2003-07-14 2004-02-18 2018-03-01 2023-01-20 83605 ENSG00000136280 OTTHUMG00000129246 uc003tmo.4 BC004903 NM_031443 "CCDS55108|CCDS34630|CCDS5500|CCDS55109" Q9BSQ5 9811928 MGI:2384924 RGD:1308067 LRG_664|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_664.xml 607929 119213 HGNC:21708 "ENST00000258781.11|NM_031443.4" HGNC:21708 +HGNC:21708 CCM2 CCM2 scaffold protein protein-coding gene gene with protein product Approved 7p13 07p13 "MGC4607|OSM" "malcavernin|osmosensing scaffold for MEKK3" C7orf22 "chromosome 7 open reading frame 22|cerebral cavernous malformation 2|CCM2 scaffolding protein" CCM adhesion complex 1940 2003-07-14 2004-02-18 2018-03-01 2023-01-20 83605 ENSG00000136280 OTTHUMG00000129246 uc003tmo.4 BC004903 NM_031443 "CCDS34630|CCDS55108|CCDS5500|CCDS55109" Q9BSQ5 9811928 MGI:2384924 RGD:1308067 LRG_664|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_664.xml 607929 119213 HGNC:21708 "ENST00000258781.11|NM_031443.4" HGNC:21708 HGNC:16153 CCM2L CCM2 like scaffold protein protein-coding gene gene with protein product Approved 20q11.21 20q11.21 dJ310O13.5 C20orf160 "chromosome 20 open reading frame 160|cerebral cavernous malformation 2-like|CCM2 like scaffolding protein" 2001-07-17 2012-10-30 2018-03-01 2023-01-20 140706 ENSG00000101331 OTTHUMG00000032197 uc002wxf.3 AL031658 NM_080625 "CCDS93028|CCDS13195" Q9NUG4 22898778 MGI:2385159 RGD:1305202 HGNC:16153 "ENST00000452892.3|NM_001365692.1" HGNC:2654 CCN1 cellular communication network factor 1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 GIG1 "IGFBP10|CYR61" cysteine rich angiogenic inducer 61 Cellular communication network factors 1046 1998-03-02 2018-10-11 2018-10-11 2023-01-20 3491 ENSG00000142871 OTTHUMG00000010577 uc001dle.4 AF031385 NM_001554 CCDS706 O00622 9135077 MGI:88613 RGD:620763 602369 470166 HGNC:2654 "ENST00000451137.7|NM_001554.5" HGNC:2500 CCN2 cellular communication network factor 2 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 IGFBP8 CTGF connective tissue growth factor Cellular communication network factors 1046 1992-12-01 2018-10-11 2018-10-11 2023-01-20 1490 ENSG00000118523 OTTHUMG00000015573 uc003qcz.4 X78947 NM_001901 CCDS5151 P29279 1654338 MGI:95537 RGD:621392 121009 165904 ligandId:8927 HGNC:2500 "ENST00000367976.4|NM_001901.4" HGNC:40164 CCN2-AS1 CCN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 AL133346.1 Antisense RNAs 1987 2021-07-30 2022-02-24 122152366 ENSG00000227220 OTTHUMG00000150056 33348573 HGNC:7885 CCN3 cellular communication network factor 3 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 IGFBP9 NOV "nephroblastoma overexpressed gene|nephroblastoma overexpressed" Cellular communication network factors 1046 1993-11-05 2018-10-11 2018-10-11 2023-01-20 4856 ENSG00000136999 OTTHUMG00000164984 uc003yoq.3 X96584 NM_002514 CCDS6328 P48745 1334251 MGI:109185 RGD:621553 164958 HGNC:7885 "ENST00000259526.4|NM_002514.4" -HGNC:12769 CCN4 cellular communication network factor 4 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 WISP-1 "WISP1-OT1|WISP1-UT1|WISP1" "WISP1 overlapping transcript 1|WISP1 3'UTR-associated RNA 1|WISP1 overlapping transcript 1 (non-protein coding)|WNT1 inducible signaling pathway protein 1" Cellular communication network factors 1046 1999-01-22 2018-10-11 2018-10-11 2023-01-20 8840 ENSG00000104415 OTTHUMG00000164440 uc003yub.4 AF100779 NM_003882 "CCDS56556|CCDS6371|CCDS56555|CCDS6372" O95388 9843955 MGI:1197008 RGD:69431 603398 HGNC:12769 "ENST00000250160.11|NM_003882.4" -HGNC:12770 CCN5 cellular communication network factor 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CT58|CTGF-L|WISP-2" WISP2 WNT1 inducible signaling pathway protein 2 Cellular communication network factors 1046 1999-01-22 2018-10-11 2018-10-11 2023-01-20 8839 ENSG00000064205 OTTHUMG00000033071 uc061xfx.1 AF100780 NM_003881 "CCDS13336|CCDS82619" O76076 9843955 MGI:1328326 RGD:621867 603399 HGNC:12770 "ENST00000190983.5|NM_003881.4" +HGNC:12769 CCN4 cellular communication network factor 4 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 WISP-1 "WISP1-OT1|WISP1-UT1|WISP1" "WISP1 overlapping transcript 1|WISP1 3'UTR-associated RNA 1|WISP1 overlapping transcript 1 (non-protein coding)|WNT1 inducible signaling pathway protein 1" Cellular communication network factors 1046 1999-01-22 2018-10-11 2018-10-11 2023-01-20 8840 ENSG00000104415 OTTHUMG00000164440 uc003yub.4 AF100779 NM_003882 "CCDS56555|CCDS56556|CCDS6371|CCDS6372" O95388 9843955 MGI:1197008 RGD:69431 603398 HGNC:12769 "ENST00000250160.11|NM_003882.4" +HGNC:12770 CCN5 cellular communication network factor 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CT58|CTGF-L|WISP-2" WISP2 WNT1 inducible signaling pathway protein 2 Cellular communication network factors 1046 1999-01-22 2018-10-11 2018-10-11 2023-01-20 8839 ENSG00000064205 OTTHUMG00000033071 uc061xfx.1 AF100780 NM_003881 "CCDS82619|CCDS13336" O76076 9843955 MGI:1328326 RGD:621867 603399 HGNC:12770 "ENST00000190983.5|NM_003881.4" HGNC:12771 CCN6 cellular communication network factor 6 protein-coding gene gene with protein product Approved 6q21 06q21 WISP-3 WISP3 WNT1 inducible signaling pathway protein 3 Cellular communication network factors 1046 1999-01-22 2018-10-11 2018-10-11 2023-03-15 8838 ENSG00000112761 OTTHUMG00000185101 uc003pvo.4 AF100781 NM_003880 CCDS5098 O95389 9843955 MGI:2685581 RGD:1564120 603400 120528 HGNC:12771 "ENST00000368666.7|NM_198239.2" HGNC:12771 HGNC:1577 CCNA1 cyclin A1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 CT146 Cyclins 473 1999-01-06 2023-01-20 8900 ENSG00000133101 OTTHUMG00000016733 uc010teo.3 U66838 NM_003914 CCDS45031 P78396 9041194 MGI:108042 RGD:1310639 604036 HGNC:1577 "ENST00000255465.7|NM_003914.4" HGNC:1578 CCNA2 cyclin A2 protein-coding gene gene with protein product Approved 4q27 04q27 "CCNA|CCN1" Cyclins 473 1990-04-09 2023-01-20 890 ENSG00000145386 OTTHUMG00000133072 uc062zje.1 NM_001237 CCDS3723 P20248 1675006 MGI:108069 RGD:621059 123835 HGNC:1578 "ENST00000274026.10|NM_001237.5" @@ -3761,30 +3761,30 @@ HGNC:37694 CCNB1IP1P2 cyclin B1 interacting protein 1 pseudogene 2 pseudogene ps HGNC:37695 CCNB1IP1P3 cyclin B1 interacting protein 1 pseudogene 3 pseudogene pseudogene Approved Xq21.33 Xq21.33 2010-01-14 2014-11-18 100128456 ENSG00000231001 OTTHUMG00000021978 NG_016614 PGOHUM00000241452 HGNC:37695 HGNC:1580 CCNB2 cyclin B2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 HsT17299 Cyclins 473 1999-02-05 2023-01-20 9133 ENSG00000157456 OTTHUMG00000132715 uc002afz.4 AF002822 NM_004701 CCDS10170 O95067 MGI:88311 RGD:1308176 602755 HGNC:1580 "ENST00000288207.7|NM_004701.4" HGNC:50850 CCNB2P1 cyclin B2 pseudogene 1 pseudogene pseudogene Approved 7p21.3 07p21.3 CCNB2 pseudogene 1 2014-07-03 2015-04-07 2015-04-07 100132073 ENSG00000214998 OTTHUMG00000152021 NG_022528 HGNC:50850 -HGNC:18709 CCNB3 cyclin B3 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CYCB3 Cyclins 473 2002-05-30 2023-03-15 85417 ENSG00000147082 OTTHUMG00000021519 uc004dox.5 AJ314764 NM_033031 "CCDS14332|CCDS14331" Q8WWL7 "11846420|12185076" MGI:2183443 RGD:1564367 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CCNB3 300456 HGNC:18709 "ENST00000376042.6|NM_033031.3" +HGNC:18709 CCNB3 cyclin B3 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CYCB3 Cyclins 473 2002-05-30 2023-03-15 85417 ENSG00000147082 OTTHUMG00000021519 uc004dox.5 AJ314764 NM_033031 "CCDS14331|CCDS14332" Q8WWL7 "11846420|12185076" MGI:2183443 RGD:1564367 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CCNB3 300456 HGNC:18709 "ENST00000376042.6|NM_033031.3" HGNC:50851 CCNB3P1 cyclin B3 pseudogene 1 pseudogene pseudogene Approved 5p14.1 05p14.1 CCNB3 pseudogene 1 2014-07-03 2015-04-07 2015-04-07 100131678 ENSG00000249616 OTTHUMG00000161967 NG_021843 PGOHUM00000235169 HGNC:50851 HGNC:1581 CCNC cyclin C protein-coding gene gene with protein product Approved 6q16.2 06q16.2 CycC "Cyclins|Mediator complex" "473|1061" 1991-12-10 2023-01-20 892 ENSG00000112237 OTTHUMG00000015268 uc003pqe.4 NM_005190 "CCDS34502|CCDS87420|CCDS47461" P24863 1833066 MGI:1858199 RGD:70905 123838 HGNC:1581 "ENST00000520429.6|NM_005190.4" HGNC:1582 CCND1 cyclin D1 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 U21B31 "parathyroid adenomatosis 1|B-cell CLL/lymphoma 1|G1/S-specific cyclin D1" "BCL1|D11S287E|PRAD1" cyclin D1 (PRAD1: parathyroid adenomatosis 1) Cyclins 473 1991-06-06 2005-09-12 2023-01-20 595 ENSG00000110092 OTTHUMG00000167877 uc001opa.4 Z23022 NM_053056 CCDS8191 P24385 "1826542|1833066" MGI:88313 RGD:68384 LRG_990|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_990.xml CCND1 168461 119217 HGNC:1582 "ENST00000227507.3|NM_053056.3" HGNC:1583 CCND2 cyclin D2 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 G1/S-specific cyclin D2 Cyclins 473 1991-12-10 2023-01-20 894 ENSG00000118971 OTTHUMG00000168123 uc001qmo.4 AF518005 NM_001759 CCDS8524 P30279 1386335 MGI:88314 RGD:621083 CCND2 123833 401370 HGNC:1583 "ENST00000261254.8|NM_001759.4" HGNC:1583 HGNC:49398 CCND2-AS1 CCND2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.32 12p13.32 CCND2-AS2 CCND2 antisense RNA 2 Antisense RNAs 1987 2013-10-28 2018-08-17 103752584 ENSG00000255920 OTTHUMG00000168157 BG413373 NR_125790 27923660 CCND2-AS1 HGNC:49398 HGNC:1584 CCND2P1 cyclin D2 pseudogene 1 pseudogene pseudogene Approved 11q12.3 11q12.3 CCND2P cyclin D2 pseudogene 1991-12-10 2013-10-28 2013-10-28 2013-10-28 895 ENSG00000256847 OTTHUMG00000167849 M91003 NG_001092 "1386335|1386336" PGOHUM00000242760 HGNC:1584 -HGNC:1585 CCND3 cyclin D3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 Cyclins 473 1991-12-10 2023-01-20 896 ENSG00000112576 OTTHUMG00000014690 uc003orn.4 NM_001760 "CCDS47425|CCDS47426|CCDS4863|CCDS47427|CCDS75452" P30281 1386335 MGI:88315 RGD:2293 LRG_998|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_998.xml CCND3 123834 HGNC:1585 "ENST00000372991.9|NM_001760.5" +HGNC:1585 CCND3 cyclin D3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 Cyclins 473 1991-12-10 2023-01-20 896 ENSG00000112576 OTTHUMG00000014690 uc003orn.4 NM_001760 "CCDS75452|CCDS4863|CCDS47427|CCDS47426|CCDS47425" P30281 1386335 MGI:88315 RGD:2293 LRG_998|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_998.xml CCND3 123834 HGNC:1585 "ENST00000372991.9|NM_001760.5" HGNC:1586 CCND3P1 cyclin D3 pseudogene 1 pseudogene pseudogene Approved 10p11.23 10p11.23 CCND3P cyclin D3 pseudogene 1991-12-10 2014-07-03 2014-07-03 2014-07-03 897 ENSG00000224473 OTTHUMG00000017892 M90815 NG_001093 "1386335|1386336" PGOHUM00000238391 HGNC:1586 HGNC:50852 CCND3P2 cyclin D3 pseudogene 2 pseudogene pseudogene Approved 18q23 18q23 2014-07-03 2014-07-03 106480307 ENSG00000265836 OTTHUMG00000179328 NG_044317 PGOHUM00000235102 HGNC:50852 HGNC:1587 CCNDBP1 cyclin D1 binding protein 1 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 "DIP1|GCIP|HHM" "D-type cyclin-interacting protein 1|MAID protein|grap2 and cyclin D interacting protein" cyclin D-type binding-protein 1 1998-10-02 2016-04-26 2023-03-15 23582 ENSG00000166946 OTTHUMG00000130703 uc001zqv.4 AF082569 NM_012142 CCDS10092 O95273 10801854 MGI:109595 RGD:1304669 607089 HGNC:1587 "ENST00000300213.9|NM_012142.5" -HGNC:1589 CCNE1 cyclin E1 protein-coding gene gene with protein product Approved 19q12 19q12 "cyclin Es|cyclin Et" CCNE Cyclins 473 1991-12-10 2023-01-20 898 ENSG00000105173 OTTHUMG00000177626 uc002nsn.4 M73812 NM_001238 "CCDS46035|CCDS12419" P24864 1833066 MGI:88316 RGD:2294 CCNE1 123837 HGNC:1589 "ENST00000262643.8|NM_001238.4" +HGNC:1589 CCNE1 cyclin E1 protein-coding gene gene with protein product Approved 19q12 19q12 "cyclin Es|cyclin Et" CCNE Cyclins 473 1991-12-10 2023-01-20 898 ENSG00000105173 OTTHUMG00000177626 uc002nsn.4 M73812 NM_001238 "CCDS12419|CCDS46035" P24864 1833066 MGI:88316 RGD:2294 CCNE1 123837 HGNC:1589 "ENST00000262643.8|NM_001238.4" HGNC:1590 CCNE2 cyclin E2 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 CYCE2 Cyclins 473 1999-02-05 2023-01-20 9134 ENSG00000175305 OTTHUMG00000164696 uc064osf.1 AF091433 "NM_057749|NM_004702" CCDS6264 O96020 "9840927|9840943" MGI:1329034 RGD:1307783 603775 HGNC:1590 "ENST00000308108.9|NM_057749.3" HGNC:1591 CCNF cyclin F protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FBX1|FBXO1" "Cyclins|F-boxes other|MicroRNA protein coding host genes" "473|560|1691" 1994-05-18 2023-01-20 899 ENSG00000162063 OTTHUMG00000128858 uc002cqd.2 Z36714 NM_001761 CCDS10467 P41002 7896286 MGI:102551 RGD:67401 600227 HGNC:1591 "ENST00000397066.9|NM_001761.3" HGNC:1591 HGNC:1592 CCNG1 cyclin G1 protein-coding gene gene with protein product Approved 5q34 05q34 CCNG Cyclins 473 1996-05-07 2023-01-20 900 ENSG00000113328 OTTHUMG00000130380 uc063jig.1 D78341 NM_004060 "CCDS4360|CCDS93817" P51959 "8954786|8806701" MGI:102890 RGD:2295 601578 HGNC:1592 "ENST00000340828.7|NM_004060.4" HGNC:39177 CCNG1P1 cyclin G1 pseudogene 1 pseudogene pseudogene Approved 6q23.2 06q23.2 2010-11-15 2010-11-15 100130820 ENSG00000218991 OTTHUMG00000015591 NG_022372 PGOHUM00000243779 HGNC:39177 HGNC:1593 CCNG2 cyclin G2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 Cyclins 473 1997-08-22 2023-01-20 901 ENSG00000138764 OTTHUMG00000130100 uc003hkq.5 BC032518 NM_004354 CCDS3581 Q16589 8806701 MGI:1095734 RGD:1305002 603203 HGNC:1593 "ENST00000316355.10|NM_004354.3" HGNC:50853 CCNG2P1 cyclin G2 pseudogene 1 pseudogene pseudogene Approved 12q21.1 12q21.1 2014-07-03 2014-07-03 100128681 ENSG00000258112 OTTHUMG00000169731 NG_021693 PGOHUM00000239520 HGNC:50853 -HGNC:1594 CCNH cyclin H protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "p34|p37|CycH" "CDK-activating kinase complex subunit|cyclin-dependent kinase-activating kinase complex subunit|MO15-associated protein|CAK complex subunit" "Cyclins|CDK activating kinase complex" "473|1744" 1994-12-16 2023-01-20 902 ENSG00000134480 OTTHUMG00000119077 uc003kjb.4 U12685 NM_001239 "CCDS87309|CCDS4064" P51946 9465303 MGI:1913921 RGD:69419 601953 HGNC:1594 "ENST00000256897.9|NM_001239.4" +HGNC:1594 CCNH cyclin H protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "p34|p37|CycH" "CDK-activating kinase complex subunit|cyclin-dependent kinase-activating kinase complex subunit|MO15-associated protein|CAK complex subunit" "Cyclins|CDK activating kinase complex" "473|1744" 1994-12-16 2023-01-20 902 ENSG00000134480 OTTHUMG00000119077 uc003kjb.4 U12685 NM_001239 "CCDS4064|CCDS87309" P51946 9465303 MGI:1913921 RGD:69419 601953 HGNC:1594 "ENST00000256897.9|NM_001239.4" HGNC:50854 CCNHP1 cyclin H pseudogene 1 pseudogene pseudogene Approved 4q34.3 04q34.3 2014-07-03 2014-07-03 100128118 ENSG00000251433 OTTHUMG00000160684 NG_022041 PGOHUM00000245780 HGNC:50854 HGNC:1595 CCNI cyclin I protein-coding gene gene with protein product Approved 4q21.1 04q21.1 CCNI1 Cyclins 473 2000-06-29 2023-01-20 10983 ENSG00000118816 OTTHUMG00000130106 uc003hkm.5 D50310 NM_006835 CCDS3580 Q14094 7493655 MGI:1341077 RGD:1309209 618783 HGNC:1595 "ENST00000237654.9|NM_006835.3" -HGNC:33869 CCNI2 cyclin I family member 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ16793 cyclin I family, member 2 Cyclins 473 2008-02-21 2015-11-18 2023-01-20 645121 ENSG00000205089 OTTHUMG00000059737 uc003kxq.3 BC132837 NM_001039780 "CCDS34236|CCDS75297" Q6ZMN8 23707792 HGNC:33869 "ENST00000378731.6|NM_001039780.4" +HGNC:33869 CCNI2 cyclin I family member 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ16793 cyclin I family, member 2 Cyclins 473 2008-02-21 2015-11-18 2023-01-20 645121 ENSG00000205089 OTTHUMG00000059737 uc003kxq.3 BC132837 NM_001039780 "CCDS75297|CCDS34236" Q6ZMN8 23707792 620419 HGNC:33869 "ENST00000378731.6|NM_001039780.4" HGNC:23434 CCNJ cyclin J protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "FLJ10895|bA690P14.1" Cyclins 473 2004-05-27 2023-01-20 54619 ENSG00000107443 OTTHUMG00000018823 uc010qoq.3 AK001757 NM_019084 "CCDS44463|CCDS7445|CCDS44462" Q5T5M9 25672416 MGI:2443297 RGD:1306399 620395 HGNC:23434 "ENST00000465148.3|NM_001134375.2" -HGNC:25876 CCNJL cyclin J like protein-coding gene gene with protein product Approved 5q33.3 05q33.3 FLJ14166 cyclin J-like Cyclins 473 2006-04-07 2016-01-06 2023-01-20 79616 ENSG00000135083 OTTHUMG00000130325 uc003lyb.2 BC013353 NM_024565 "CCDS4350|CCDS78082" Q8IV13 12477932 MGI:2685723 RGD:1561384 HGNC:25876 "ENST00000257536.13|NM_001308173.3" +HGNC:25876 CCNJL cyclin J like protein-coding gene gene with protein product Approved 5q33.3 05q33.3 FLJ14166 cyclin J-like Cyclins 473 2006-04-07 2016-01-06 2023-01-20 79616 ENSG00000135083 OTTHUMG00000130325 uc003lyb.2 BC013353 NM_024565 "CCDS78082|CCDS4350" Q8IV13 12477932 MGI:2685723 RGD:1561384 HGNC:25876 "ENST00000257536.13|NM_001308173.3" HGNC:22512 CCNJP1 cyclin J pseudogene 1 pseudogene pseudogene Approved 7p11.2 07p11.2 CCNJP cyclin J pseudogene 2004-06-02 2010-03-17 2010-03-17 2020-04-20 100128459 ENSG00000227491 OTTHUMG00000156229 NG_017085 PGOHUM00000232713 HGNC:22512 HGNC:37997 CCNJP2 cyclin J pseudogene 2 pseudogene pseudogene Approved 1p22.1 01p22.1 2010-03-17 2014-11-19 100418724 ENSG00000223896 OTTHUMG00000010898 NG_022793 PGOHUM00000244798 HGNC:37997 HGNC:1596 CCNK cyclin K protein-coding gene gene with protein product Approved 14q32.2 14q32.2 CPR4 "Cyclins|P-TEFb complex subunits" "473|1281" 1998-12-22 2023-01-20 8812 ENSG00000090061 OTTHUMG00000171495 uc001ygi.5 AF060515 NM_001099402 CCDS45160 O75909 "9632813|10574912" MGI:1276106 RGD:1595690 603544 HGNC:1596 "ENST00000389879.9|NM_001099402.2" HGNC:1596 @@ -3792,19 +3792,19 @@ HGNC:20569 CCNL1 cyclin L1 protein-coding gene gene with protein product Approve HGNC:20570 CCNL2 cyclin L2 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "ania-6b|PCEE|SB138|HLA-ISO|CCNS" cyclin S CCNM cyclin M Cyclins 473 2003-03-07 2023-03-15 81669 ENSG00000221978 OTTHUMG00000002917 uc001afi.3 AF251294 NM_030937 "CCDS30558|CCDS30557" Q96S94 14725631 MGI:1927119 RGD:1309149 613482 HGNC:20570 "ENST00000400809.8|NM_030937.6" HGNC:50855 CCNL2P1 cyclin L2 pseudogene 1 pseudogene pseudogene Approved 4p13 04p13 2014-07-03 2014-07-03 100418743 ENSG00000248283 OTTHUMG00000162545 NG_025094 PGOHUM00000263127 HGNC:50855 HGNC:18576 CCNO cyclin O protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "UDG2|FLJ22422|UNG2" CCNU cyclin U Cyclins 473 2002-04-26 2007-07-26 2007-07-26 2023-01-20 10309 ENSG00000152669 OTTHUMG00000162598 uc003jpw.4 M87499 NM_021147 CCDS34157 P22674 MGI:2145534 RGD:1565217 607752 403591 HGNC:18576 "ENST00000282572.5|NM_021147.5" HGNC:18576 -HGNC:55543 CCNO-DT CCNO divergent transcript non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Divergent transcripts 1990 2021-03-24 2021-03-24 121009647 ENSG00000251307 +HGNC:55543 CCNO-DT CCNO divergent transcript non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Divergent transcripts 1990 2021-03-24 2021-03-24 121009647 ENSG00000251307 NR_185977 HGNC:25805 CCNP cyclin P protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ13265 CNTD2 cyclin N-terminal domain containing 2 Cyclins 473 2006-03-31 2020-01-30 2020-01-30 2023-01-20 79935 ENSG00000105219 OTTHUMG00000160481 uc010xvi.2 AK023327 NM_024877 "CCDS92618|CCDS12551" Q9H8S5 "11237006|30087414" 620396 HGNC:25805 "ENST00000430325.7|NM_024877.4" HGNC:28434 CCNQ cyclin Q protein-coding gene gene with protein product Approved Xq28 Xq28 CycM cyclin M FAM58A "family with sequence similarity 58, member A|family with sequence similarity 58 member A" Cyclins 473 2005-05-19 2017-07-14 2017-07-14 2023-03-15 92002 ENSG00000262919 OTTHUMG00000024206 uc033fau.2 BC032121 NM_152274 CCDS76054 Q8N1B3 "18297069|24218572|27104747" MGI:1916359 RGD:1305651 300708 159514 HGNC:28434 "ENST00000576892.8|NM_152274.5" HGNC:28434 HGNC:27373 CCNQP1 CCNQ pseudogene 1 pseudogene pseudogene Approved 1q32.1 01q32.1 "FAM58B|FAM58BP" "family with sequence similarity 58, member B|family with sequence similarity 58, member B, pseudogene|family with sequence similarity 58 member B, pseudogene" 2005-05-19 2018-02-20 2018-02-20 2018-02-20 339521 ENSG00000233827 OTTHUMG00000035720 NG_033015 15897902 HGNC:27373 HGNC:38436 CCNQP2 CCNQ pseudogene 2 pseudogene pseudogene Approved Yq12 Yq12 FAM58Y "FAM58AP1|FAM58CP" "family with sequence similarity 58, member A pseudogene 1|family with sequence similarity 58, member C, pseudogene|family with sequence similarity 58 member C, pseudogene" 2010-05-11 2018-02-20 2018-02-20 2018-02-20 100421487 ENSG00000231514 OTTHUMG00000036813 NG_021933 HGNC:38436 HGNC:42022 CCNQP3 CCNQ pseudogene 3 pseudogene pseudogene Approved 13q12.11 13q12.11 FAM58DP "family with sequence similarity 58, member D, pseudogene|family with sequence similarity 58 member D, pseudogene" 2011-06-01 2018-02-20 2018-02-20 2018-02-20 100421566 ENSG00000231184 OTTHUMG00000016487 NG_024890 PGOHUM00000248510 HGNC:42022 HGNC:1599 CCNT1 cyclin T1 protein-coding gene gene with protein product Approved 12q13.11-q13.12 12q13.11-q13.12 "CCNT|CYCT1" HIVE1 human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1 "Cyclins|P-TEFb complex subunits" "473|1281" 1998-04-29 2023-01-20 904 ENSG00000129315 OTTHUMG00000170393 uc001rsd.5 AF048730 NM_001240 "CCDS8766|CCDS61109" O60563 "9491887|9499409" MGI:1328363 RGD:1311151 143055 HGNC:1599 "ENST00000261900.8|NM_001240.4" -HGNC:1600 CCNT2 cyclin T2 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "Cyclins|P-TEFb complex subunits" "473|1281" 1998-04-29 2023-01-20 905 ENSG00000082258 OTTHUMG00000131712 uc002tuc.3 AF048731 NM_058241 "CCDS2175|CCDS2174" O60583 "9499409|10465067" MGI:1920199 RGD:1309205 603862 HGNC:1600 "ENST00000264157.10|NM_058241.3" +HGNC:1600 CCNT2 cyclin T2 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "Cyclins|P-TEFb complex subunits" "473|1281" 1998-04-29 2023-01-20 905 ENSG00000082258 OTTHUMG00000131712 uc002tuc.3 AF048731 NM_058241 "CCDS2174|CCDS2175" O60583 "9499409|10465067" MGI:1920199 RGD:1309205 603862 HGNC:1600 "ENST00000264157.10|NM_058241.3" HGNC:40130 CCNT2-AS1 CCNT2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.3 02q21.3 Antisense RNAs 1987 2013-10-15 2014-11-19 100129961 ENSG00000224043 OTTHUMG00000154855 NR_036549 CCNT2-AS1 HGNC:40130 HGNC:39178 CCNT2P1 cyclin T2 pseudogene 1 pseudogene pseudogene Approved 1p13.3 01p13.3 2010-11-15 2010-11-15 100418763 ENSG00000225672 OTTHUMG00000034495 NG_026970 PGOHUM00000244141 HGNC:39178 -HGNC:23354 CCNY cyclin Y protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "CFP1|CBCP1" C10orf9 chromosome 10 open reading frame 9 Cyclins 473 2003-11-12 2007-02-09 2007-02-09 2023-01-20 219771 ENSG00000108100 OTTHUMG00000017955 uc001iyw.6 "AF413522|AY504868" NM_181698 "CCDS7190|CCDS60513|CCDS7189" Q8ND76 20441050 MGI:1915224 RGD:1565969 612786 HGNC:23354 "ENST00000374704.8|NM_145012.6" +HGNC:23354 CCNY cyclin Y protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "CFP1|CBCP1" C10orf9 chromosome 10 open reading frame 9 Cyclins 473 2003-11-12 2007-02-09 2007-02-09 2023-01-20 219771 ENSG00000108100 OTTHUMG00000017955 uc001iyw.6 "AF413522|AY504868" NM_181698 "CCDS7189|CCDS7190|CCDS60513" Q8ND76 20441050 MGI:1915224 RGD:1565969 612786 HGNC:23354 "ENST00000374704.8|NM_145012.6" HGNC:55252 CCNY-AS1 CCNY antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 AL117336.3 Antisense RNAs 1987 2020-09-24 2022-11-10 118732302 ENSG00000271335 35965795 -HGNC:26868 CCNYL1 cyclin Y like 1 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 FLJ40432 cyclin Y-like 1 "Cyclins|MicroRNA protein coding host genes" "473|1691" 2007-02-09 2015-11-12 2023-01-20 151195 ENSG00000163249 OTTHUMG00000132946 uc002vci.4 AK095479 NM_152523 "CCDS46503|CCDS2377|CCDS82564" Q8N7R7 MGI:2138614 RGD:1310683 HGNC:26868 "ENST00000295414.8|NM_001330218.2" +HGNC:26868 CCNYL1 cyclin Y like 1 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 FLJ40432 cyclin Y-like 1 "Cyclins|MicroRNA protein coding host genes" "473|1691" 2007-02-09 2015-11-12 2023-01-20 151195 ENSG00000163249 OTTHUMG00000132946 uc002vci.4 AK095479 NM_152523 "CCDS2377|CCDS82564|CCDS46503" Q8N7R7 MGI:2138614 RGD:1310683 HGNC:26868 "ENST00000295414.8|NM_001330218.2" HGNC:56313 CCNYL1B cyclin Y like 1B protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2023-03-13 2023-03-13 102724485 ENSG00000284209 XM_011546045 HGNC:23495 CCNYL2 cyclin Y like 2 (pseudogene) pseudogene pseudogene Approved 10q11.21 10q11.21 "bA178A10.2|CCNYL2P" C10orf21 "chromosome 10 open reading frame 21|cyclin Y-like 2" Cyclins 473 2004-05-27 2007-02-09 2019-02-19 2019-02-19 414194 ENSG00000182632 OTTHUMG00000018009 BC039000 XM_936368 Q5T2Q4 HGNC:23495 HGNC:33206 CCNYL3 cyclin Y like 3 (pseudogene) pseudogene pseudogene Approved 16p11.2 16p11.2 cyclin Y like 3 Cyclins 473 2007-02-09 2019-03-06 2020-06-15 102724928 ENSG00000216671 NR_158158 P0C7X3 HGNC:33206 @@ -3812,25 +3812,25 @@ HGNC:54655 CCNYL4 cyclin Y like 4 (pseudogene) pseudogene pseudogene Approved 10 HGNC:54656 CCNYL5 cyclin Y like 5 (pseudogene) pseudogene pseudogene Approved Xq12 Xq12 2019-11-12 2020-01-21 100130724 ENSG00000230039 OTTHUMG00000021726 NG_009045 PGOHUM00000304672 HGNC:54657 CCNYL6 cyclin Y like 6 (pseudogene) pseudogene pseudogene Approved 19p12 19p12 2019-11-12 2020-01-21 641367 ENSG00000269845 OTTHUMG00000182873 NR_024523 HGNC:54659 CCNYL7 cyclin Y like 7 (pseudogene) pseudogene pseudogene Approved 16p12.2 16p12.2 2019-11-12 2020-01-21 100419017 ENSG00000261528 OTTHUMG00000177017 NG_026401 PGOHUM00000293743 -HGNC:24342 CCP110 centriolar coiled-coil protein 110 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "KIAA0419|CP110" centriolar coiled coil protein 110kDa 2011-05-26 2016-06-01 2023-01-20 9738 ENSG00000103540 OTTHUMG00000131459 uc002dgk.5 AB007879 NM_014711 "CCDS10579|CCDS55992" O43303 "9455477|12361598|16760425" MGI:2141942 RGD:1310509 609544 HGNC:24342 "ENST00000694978.1|NM_001323572.2" -HGNC:24227 CCPG1 cell cycle progression 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "KIAA1254|CPR8" MicroRNA protein coding host genes 1691 2004-07-02 2023-01-20 9236 ENSG00000260916 OTTHUMG00000172678 uc002acv.3 AF212228 NM_004748 "CCDS42039|CCDS55967|CCDS55966" Q9ULG6 "9383053|10574462" MGI:1196419 RGD:1311261 611326 HGNC:24227 "ENST00000442196.8|NM_001204450.2" +HGNC:24342 CCP110 centriolar coiled-coil protein 110 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "KIAA0419|CP110" centriolar coiled coil protein 110kDa 2011-05-26 2016-06-01 2023-01-20 9738 ENSG00000103540 OTTHUMG00000131459 uc002dgk.5 AB007879 NM_014711 "CCDS55992|CCDS10579" O43303 "9455477|12361598|16760425" MGI:2141942 RGD:1310509 609544 HGNC:24342 "ENST00000694978.1|NM_001323572.2" +HGNC:24227 CCPG1 cell cycle progression 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "KIAA1254|CPR8" MicroRNA protein coding host genes 1691 2004-07-02 2023-01-20 9236 ENSG00000260916 OTTHUMG00000172678 uc002acv.3 AF212228 NM_004748 "CCDS55966|CCDS42039|CCDS55967" Q9ULG6 "9383053|10574462" MGI:1196419 RGD:1311261 611326 HGNC:24227 "ENST00000442196.8|NM_001204450.2" HGNC:1602 CCR1 C-C motif chemokine receptor 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CKR-1|MIP1aR|CD191" "SCYAR1|CMKBR1" chemokine (C-C motif) receptor 1 "CD molecules|C-C motif chemokine receptors" "471|1091" 1993-10-14 2016-03-14 2023-01-20 1230 ENSG00000163823 OTTHUMG00000133451 uc003cph.2 NM_001295 CCDS2737 P32246 7679328 MGI:104618 RGD:708446 601159 449063 objectId:58 CD191 HGNC:1602 "ENST00000296140.4|NM_001295.3" -HGNC:1603 CCR2 C-C motif chemokine receptor 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CC-CKR-2|CKR2|MCP-1-R|CD192|FLJ78302" CMKBR2 chemokine (C-C motif) receptor 2 "CD molecules|C-C motif chemokine receptors" "471|1091" 1995-05-30 2016-03-14 2023-01-20 729230 ENSG00000121807 OTTHUMG00000156466 uc003cpn.5 NM_000647 "CCDS46813|CCDS43078" P41597 8146186 MGI:106185 RGD:620876 601267 objectId:59 CD192 HGNC:1603 "ENST00000445132.3|NM_001123396.4" -HGNC:1604 CCR3 C-C motif chemokine receptor 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CC-CKR-3|CKR3|CD193" CMKBR3 chemokine (C-C motif) receptor 3 "CD molecules|C-C motif chemokine receptors" "471|1091" 1995-05-30 2016-03-14 2023-01-20 1232 ENSG00000183625 OTTHUMG00000133484 uc003cpg.3 AF247361 NM_001164680 "CCDS2738|CCDS54574" P51677 MGI:104616 RGD:620593 601268 objectId:60 CD193 HGNC:1604 "ENST00000395940.3|NM_178329.3" +HGNC:1603 CCR2 C-C motif chemokine receptor 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CC-CKR-2|CKR2|MCP-1-R|CD192|FLJ78302" CMKBR2 chemokine (C-C motif) receptor 2 "CD molecules|C-C motif chemokine receptors" "471|1091" 1995-05-30 2016-03-14 2023-01-20 729230 ENSG00000121807 OTTHUMG00000156466 uc003cpn.5 NM_000647 "CCDS43078|CCDS46813" P41597 8146186 MGI:106185 RGD:620876 601267 objectId:59 CD192 HGNC:1603 "ENST00000445132.3|NM_001123396.4" +HGNC:1604 CCR3 C-C motif chemokine receptor 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CC-CKR-3|CKR3|CD193" CMKBR3 chemokine (C-C motif) receptor 3 "CD molecules|C-C motif chemokine receptors" "471|1091" 1995-05-30 2016-03-14 2023-01-20 1232 ENSG00000183625 OTTHUMG00000133484 uc003cpg.3 AF247361 NM_001164680 "CCDS54574|CCDS2738" P51677 MGI:104616 RGD:620593 601268 objectId:60 CD193 HGNC:1604 "ENST00000395940.3|NM_178329.3" HGNC:1605 CCR4 C-C motif chemokine receptor 4 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "CC-CKR-4|CMKBR4|CKR4|k5-5|ChemR13|CD194" chemokine (C-C motif) receptor 4 "CD molecules|C-C motif chemokine receptors" "471|1091" 1996-05-15 2016-03-14 2023-01-20 1233 ENSG00000183813 OTTHUMG00000130752 uc003cfg.2 X85740 NM_005508 CCDS2656 P51679 "7642634|8884276" MGI:107824 RGD:620594 604836 objectId:61 CD194 HGNC:1605 "ENST00000330953.6|NM_005508.5" HGNC:1606 CCR5 C-C motif chemokine receptor 5 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CKR-5|CC-CKR-5|CKR5|CD195|IDDM22" CMKBR5 "chemokine (C-C motif) receptor 5|chemokine (C-C motif) receptor 5 (gene/pseudogene)|C-C motif chemokine receptor 5 (gene/pseudogene)" "CD molecules|C-C motif chemokine receptors" "471|1091" 1996-05-15 2020-05-01 2023-01-20 1234 ENSG00000160791 OTTHUMG00000133481 uc062izs.1 NM_000579 CCDS2739 P51681 "8639485|9284370|20210993" MGI:107182 RGD:620596 601373 324270 objectId:62 CD195 HGNC:1606 "ENST00000292303.5|NM_001394783.1" HGNC:54398 CCR5AS CCR5 antisense RNA non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 Long non-coding RNAs with non-systematic symbols 1992 2019-06-19 2019-06-19 102724297 ENSG00000223552 NR_125406 31209403 HGNC:54398 HGNC:1607 CCR6 C-C motif chemokine receptor 6 protein-coding gene gene with protein product Approved 6q27 06q27 "CKR-L3|GPR-CY4|CMKBR6|GPR29|DRY-6|DCR2|BN-1|CD196" STRL22 chemokine (C-C motif) receptor 6 "CD molecules|C-C motif chemokine receptors" "471|1091" 1997-04-21 2016-03-14 2023-01-20 1235 ENSG00000112486 OTTHUMG00000016015 uc010kkm.3 U68030 NM_001394582 CCDS5298 P51684 8886020 MGI:1333797 RGD:1308562 601835 377602 objectId:63 CD196 HGNC:1607 "ENST00000341935.10|NM_031409.4" HGNC:1608 CCR7 C-C motif chemokine receptor 7 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "BLR2|CDw197|CD197" "CMKBR7|EBI1" chemokine (C-C motif) receptor 7 "CD molecules|C-C motif chemokine receptors" "471|1091" 1994-05-17 2016-03-14 2023-01-20 1236 ENSG00000126353 OTTHUMG00000133375 uc002huw.4 NM_001301714 "CCDS77026|CCDS11369" P32248 8383238 MGI:103011 RGD:735151 600242 objectId:64 CD197 HGNC:1608 "ENST00000246657.2|NM_001838.4" HGNC:1609 CCR8 C-C motif chemokine receptor 8 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "CY6|TER1|CKR-L1|GPR-CY6|CDw198" "CMKBRL2|CMKBR8" chemokine (C-C motif) receptor 8 "CD molecules|C-C motif chemokine receptors" "471|1091" 1997-04-21 2016-03-14 2023-01-20 1237 ENSG00000179934 OTTHUMG00000131290 uc010hhr.3 D49919 NM_005201 CCDS2684 P51685 "8816377|8886020" MGI:1201402 RGD:1304893 601834 objectId:65 CDw198 HGNC:1609 "ENST00000326306.5|NM_005201.4" -HGNC:1610 CCR9 C-C motif chemokine receptor 9 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "GPR-9-6|CDw199" GPR28 chemokine (C-C motif) receptor 9 "CD molecules|C-C motif chemokine receptors" "471|1091" 1999-09-17 2016-03-14 2023-01-20 10803 ENSG00000173585 OTTHUMG00000133450 uc003coz.3 AJ132337 NM_001256369 "CCDS2732|CCDS2733" P51686 10229797 MGI:1341902 RGD:628750 604738 objectId:66 CDw199 HGNC:1610 "ENST00000357632.7|NM_031200.3" +HGNC:1610 CCR9 C-C motif chemokine receptor 9 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "GPR-9-6|CDw199" GPR28 chemokine (C-C motif) receptor 9 "CD molecules|C-C motif chemokine receptors" "471|1091" 1999-09-17 2016-03-14 2023-01-20 10803 ENSG00000173585 OTTHUMG00000133450 uc003coz.3 AJ132337 NM_001256369 "CCDS2733|CCDS2732" P51686 10229797 MGI:1341902 RGD:628750 604738 objectId:66 CDw199 HGNC:1610 "ENST00000357632.7|NM_031200.3" HGNC:4474 CCR10 C-C motif chemokine receptor 10 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 GPR2 "G protein-coupled receptor 2|chemokine (C-C motif) receptor 10" C-C motif chemokine receptors 1091 1994-07-25 2004-11-12 2016-03-14 2023-01-20 2826 ENSG00000184451 OTTHUMG00000132301 uc002iax.5 AF215981 NM_016602 CCDS11435 P46092 7851889 MGI:1096320 RGD:1310716 600240 objectId:67 HGNC:4474 "ENST00000332438.4|NM_016602.3" HGNC:39812 CCR12P C-C motif chemokine receptor 12, pseudogene pseudogene pseudogene Approved 13q32.3 13q32.3 GPR183P1 "G protein-coupled receptor 183 pseudogene 1|chemokine (C-C motif) receptor 12, pseudogene" 2011-03-29 2011-06-09 2016-03-14 2016-03-14 100133168 ENSG00000238241 OTTHUMG00000017269 NG_030243 PGOHUM00000248479 HGNC:39812 -HGNC:1612 CCRL2 C-C motif chemokine receptor like 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "HCR|CRAM-B|CKRX|CRAM-A|ACKR5" atypical chemokine receptor 5 chemokine (C-C motif) receptor-like 2 Atypical chemokine receptors 1090 1999-09-17 2013-07-18 2016-03-14 2023-01-20 9034 ENSG00000121797 OTTHUMG00000156318 uc003cpp.5 AF014958 NM_001130910 "CCDS46814|CCDS43079" O00421 9473515 MGI:1920904 RGD:1311811 608379 objectId:78 HGNC:1612 "ENST00000399036.4|NM_003965.5" +HGNC:1612 CCRL2 C-C motif chemokine receptor like 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "HCR|CRAM-B|CKRX|CRAM-A|ACKR5" atypical chemokine receptor 5 chemokine (C-C motif) receptor-like 2 Atypical chemokine receptors 1090 1999-09-17 2013-07-18 2016-03-14 2023-01-20 9034 ENSG00000121797 OTTHUMG00000156318 uc003cpp.5 AF014958 NM_001130910 "CCDS43079|CCDS46814" O00421 9473515 MGI:1920904 RGD:1311811 608379 objectId:78 HGNC:1612 "ENST00000399036.4|NM_003965.5" HGNC:1613 CCS copper chaperone for superoxide dismutase protein-coding gene gene with protein product Approved 11q13.2 11q13.2 1999-07-23 2023-01-20 9973 ENSG00000173992 OTTHUMG00000167238 uc001oir.4 AF002210 NM_005125 CCDS8146 O14618 9295278 MGI:1333783 RGD:620403 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 603864 HGNC:1613 "ENST00000533244.6|NM_005125.2" HGNC:29578 CCSAP centriole, cilia and spindle associated protein protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "FLJ41471|CSAP" centriole and spindle-associated protein C1orf96 "chromosome 1 open reading frame 96|centriole, cilia and spindle-associated protein" 2005-05-31 2012-06-19 2016-01-19 2023-01-20 126731 ENSG00000154429 OTTHUMG00000037663 uc001htl.4 BC071609 NM_145257 "CCDS1577|CCDS91172" Q6IQ19 22493317 MGI:1920670 RGD:1563235 616762 HGNC:29578 "ENST00000284617.7|NM_145257.5" HGNC:29349 CCSER1 coiled-coil serine rich protein 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 KIAA1680 FAM190A "family with sequence similarity 190, member A|coiled-coil serine-rich protein 1" 2009-07-09 2012-12-03 2015-11-05 2023-01-20 401145 ENSG00000184305 OTTHUMG00000160950 uc003hsv.5 NM_001145065 "CCDS47099|CCDS47100" Q9C0I3 11214970 MGI:3045354 RGD:1565731 618934 HGNC:29349 "ENST00000509176.6|NM_001145065.2" -HGNC:29197 CCSER2 coiled-coil serine rich protein 2 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "KIAA1128|FAM190B" "KIAA1128|family with sequence similarity 190, member B|coiled-coil serine-rich protein 2" 2004-05-27 2012-12-03 2015-11-05 2023-01-20 54462 ENSG00000107771 OTTHUMG00000018641 uc001kdh.3 NM_018999 "CCDS60583|CCDS73159|CCDS60582|CCDS31235" Q9H7U1 10574461 MGI:101859 RGD:1304626 619944 HGNC:29197 "ENST00000372088.8|NM_001284240.2" +HGNC:29197 CCSER2 coiled-coil serine rich protein 2 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "KIAA1128|FAM190B" "KIAA1128|family with sequence similarity 190, member B|coiled-coil serine-rich protein 2" 2004-05-27 2012-12-03 2015-11-05 2023-01-20 54462 ENSG00000107771 OTTHUMG00000018641 uc001kdh.3 NM_018999 "CCDS73159|CCDS31235|CCDS60583|CCDS60582" Q9H7U1 10574461 MGI:101859 RGD:1304626 619944 HGNC:29197 "ENST00000372088.8|NM_001284240.2" HGNC:56795 CCSER2P1 CCSER2 pseudogene 1 pseudogene pseudogene Approved 9q31.1 09q31.1 2023-04-19 2023-04-19 2023-04-19 2023-04-19 100127962 ENSG00000235901 NG_021671 PGOHUM00000304424 HGNC:1615 CCT2 chaperonin containing TCP1 subunit 2 protein-coding gene gene with protein product Approved 12q15 12q15 Cctb chaperonin containing TCP1, subunit 2 (beta) Chaperonins 587 1999-02-26 2016-01-06 2023-01-20 10576 ENSG00000166226 OTTHUMG00000169383 uc001svb.2 AF026293 NM_006431 "CCDS55843|CCDS8991" P78371 9819444 MGI:107186 RGD:1359143 605139 470048 HGNC:1615 "ENST00000299300.11|NM_006431.3" HGNC:1615 HGNC:1616 CCT3 chaperonin containing TCP1 subunit 3 protein-coding gene gene with protein product Approved 1q22 01q22 Cctg TRIC5 chaperonin containing TCP1, subunit 3 (gamma) Chaperonins 587 1999-02-26 2016-01-06 2023-03-15 7203 ENSG00000163468 OTTHUMG00000024061 uc001fol.3 BC008019 NM_005998 "CCDS30888|CCDS1140" P49368 8110840 MGI:104708 RGD:735038 600114 HGNC:1616 "ENST00000295688.8|NM_005998.5" @@ -3838,20 +3838,20 @@ HGNC:35129 CCT3P1 chaperonin containing TCP1 subunit 3 pseudogene 1 pseudogene p HGNC:1617 CCT4 chaperonin containing TCP1 subunit 4 protein-coding gene gene with protein product Approved 2p15 02p15 Cctd chaperonin containing TCP1, subunit 4 (delta) Chaperonins 587 1999-02-26 2016-01-06 2023-01-20 10575 ENSG00000115484 OTTHUMG00000152166 uc002sbo.5 NM_001256721 "CCDS33206|CCDS58711" P50991 9819444 MGI:104689 RGD:727937 605142 HGNC:1617 "ENST00000394440.8|NM_006430.4" HGNC:35151 CCT4P1 chaperonin containing TCP1 subunit 4 pseudogene 1 pseudogene pseudogene Approved 7q34 07q34 chaperonin containing TCP1, subunit 4 (delta) pseudogene 1 2008-09-22 2016-01-06 2016-01-06 650172 ENSG00000242703 OTTHUMG00000157458 NG_016595 PGOHUM00000233016 HGNC:35151 HGNC:35141 CCT4P2 chaperonin containing TCP1 subunit 4 pseudogene 2 pseudogene pseudogene Approved Xq11.2 Xq11.2 chaperonin containing TCP1, subunit 4 (delta) pseudogene 2 2008-09-22 2016-01-06 2016-10-05 100131638 ENSG00000225569 OTTHUMG00000021713 NG_022664 HGNC:35141 -HGNC:1618 CCT5 chaperonin containing TCP1 subunit 5 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 KIAA0098 chaperonin containing TCP1, subunit 5 (epsilon) Chaperonins 587 1999-09-29 2016-01-06 2023-01-20 22948 ENSG00000150753 OTTHUMG00000131042 uc003jeq.4 D43950 NM_001306153 "CCDS82988|CCDS82989|CCDS82990|CCDS77996|CCDS3877" P48643 MGI:107185 RGD:735161 LRG_361|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_361.xml 610150 119222 HGNC:1618 "ENST00000280326.9|NM_012073.5" HGNC:1618 +HGNC:1618 CCT5 chaperonin containing TCP1 subunit 5 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 KIAA0098 chaperonin containing TCP1, subunit 5 (epsilon) Chaperonins 587 1999-09-29 2016-01-06 2023-01-20 22948 ENSG00000150753 OTTHUMG00000131042 uc003jeq.4 D43950 NM_001306153 "CCDS82988|CCDS3877|CCDS82990|CCDS77996|CCDS82989" P48643 MGI:107185 RGD:735161 LRG_361|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_361.xml 610150 119222 HGNC:1618 "ENST00000280326.9|NM_012073.5" HGNC:1618 HGNC:35135 CCT5P1 chaperonin containing TCP1 subunit 5 pseudogene 1 pseudogene pseudogene Approved 5q22.3 05q22.3 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 1 2008-09-22 2016-01-06 2016-01-06 402226 ENSG00000250444 OTTHUMG00000162916 NG_016575 HGNC:35135 HGNC:35139 CCT5P2 chaperonin containing TCP1 subunit 5 pseudogene 2 pseudogene pseudogene Approved 13q31.1 13q31.1 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 2 2008-09-22 2016-01-06 2016-01-06 390415 ENSG00000230584 OTTHUMG00000017126 NG_016574 HGNC:35139 -HGNC:1620 CCT6A chaperonin containing TCP1 subunit 6A protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "TTCP20|TCPZ|Cctz|HTR3|TCP20" CCT6 chaperonin containing TCP1, subunit 6A (zeta 1) "Chaperonins|Small nucleolar RNA protein coding host genes" "587|1835" 1999-02-26 2016-01-06 2023-01-20 908 ENSG00000146731 OTTHUMG00000022842 uc003trl.2 M94083 NM_001762 "CCDS5523|CCDS34640" P40227 "1352881|8034610" MGI:107943 RGD:1304763 104613 HGNC:1620 "ENST00000275603.9|NM_001762.4" -HGNC:1621 CCT6B chaperonin containing TCP1 subunit 6B protein-coding gene gene with protein product Approved 17q12 17q12 "Cctz2|TSA303" chaperonin containing TCP1, subunit 6B (zeta 2) Chaperonins 587 1999-02-26 2016-01-06 2023-01-20 10693 ENSG00000132141 OTTHUMG00000179770 uc002hig.4 D78333 NM_006584 "CCDS32617|CCDS54106|CCDS54105" Q92526 "8812458|9013858" MGI:1329013 RGD:1359453 610730 HGNC:1621 "ENST00000314144.10|NM_006584.4" +HGNC:1620 CCT6A chaperonin containing TCP1 subunit 6A protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "TTCP20|TCPZ|Cctz|HTR3|TCP20" CCT6 chaperonin containing TCP1, subunit 6A (zeta 1) "Chaperonins|Small nucleolar RNA protein coding host genes" "587|1835" 1999-02-26 2016-01-06 2023-01-20 908 ENSG00000146731 OTTHUMG00000022842 uc003trl.2 M94083 NM_001762 "CCDS34640|CCDS5523" P40227 "1352881|8034610" MGI:107943 RGD:1304763 104613 HGNC:1620 "ENST00000275603.9|NM_001762.4" +HGNC:1621 CCT6B chaperonin containing TCP1 subunit 6B protein-coding gene gene with protein product Approved 17q12 17q12 "Cctz2|TSA303" chaperonin containing TCP1, subunit 6B (zeta 2) Chaperonins 587 1999-02-26 2016-01-06 2023-01-20 10693 ENSG00000132141 OTTHUMG00000179770 uc002hig.4 D78333 NM_006584 "CCDS54106|CCDS32617|CCDS54105" Q92526 "8812458|9013858" MGI:1329013 RGD:1359453 610730 HGNC:1621 "ENST00000314144.10|NM_006584.4" HGNC:33094 CCT6P1 chaperonin containing TCP1 subunit 6 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 CCT6AP1 "chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1|chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1" Small nucleolar RNA non-coding host genes 1839 2006-08-07 2008-09-22 2016-01-06 2016-01-06 643253 ENSG00000228409 OTTHUMG00000156733 "BC052238|BC073761" NR_003110 PGOHUM00000233383 HGNC:33094 HGNC:35150 CCT6P2 chaperonin containing TCP1 subunit 6 pseudogene 2 pseudogene pseudogene Approved 5p15.2 05p15.2 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 2 2008-09-22 2016-01-06 2016-01-06 391739 ENSG00000250526 OTTHUMG00000161827 NG_016581 PGOHUM00000235126 HGNC:35150 HGNC:35137 CCT6P3 chaperonin containing TCP1 subunit 6 pseudogene 3 pseudogene pseudogene Approved 7q11.21 07q11.21 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 Small nucleolar RNA non-coding host genes 1839 2008-09-22 2016-01-06 2016-01-06 643180 ENSG00000234585 OTTHUMG00000156630 NR_033416 PGOHUM00000233372 HGNC:35137 HGNC:35148 CCT6P4 chaperonin containing TCP1 subunit 6 pseudogene 4 pseudogene pseudogene Approved 3q28 03q28 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 4 2008-09-22 2016-01-06 2016-01-06 100130481 ENSG00000232610 OTTHUMG00000156191 NG_016479 PGOHUM00000238300 HGNC:35148 HGNC:38608 CCT6P5 chaperonin containing TCP1 subunit 6 pseudogene 5 pseudogene pseudogene Approved 11q22.3 11q22.3 CCT6-2P chaperonin containing TCP1, subunit 6 (zeta) pseudogene 5 2010-09-29 2016-01-06 2016-01-06 100463286 NG_023057 PGOHUM00000242475 HGNC:38608 -HGNC:1622 CCT7 chaperonin containing TCP1 subunit 7 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "Ccth|Nip7-1" chaperonin containing TCP1, subunit 7 (eta) Chaperonins 587 1999-02-26 2016-01-06 2023-01-20 10574 ENSG00000135624 OTTHUMG00000152765 uc002siz.4 AF026292 NM_001009570 "CCDS42696|CCDS46336|CCDS54366|CCDS54367" Q99832 9819444 MGI:107184 RGD:1306422 605140 HGNC:1622 "ENST00000258091.10|NM_006429.4" +HGNC:1622 CCT7 chaperonin containing TCP1 subunit 7 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "Ccth|Nip7-1" chaperonin containing TCP1, subunit 7 (eta) Chaperonins 587 1999-02-26 2016-01-06 2023-01-20 10574 ENSG00000135624 OTTHUMG00000152765 uc002siz.4 AF026292 NM_001009570 "CCDS54367|CCDS42696|CCDS46336|CCDS54366" Q99832 9819444 MGI:107184 RGD:1306422 605140 HGNC:1622 "ENST00000258091.10|NM_006429.4" HGNC:35149 CCT7P1 chaperonin containing TCP1 subunit 7 pseudogene 1 pseudogene pseudogene Approved 6q25.1 06q25.1 chaperonin containing TCP1, subunit 7 (eta) pseudogene 1 2008-09-22 2016-01-06 2016-01-06 442267 ENSG00000217733 OTTHUMG00000015799 NG_029833 PGOHUM00000243814 HGNC:35149 HGNC:35134 CCT7P2 chaperonin containing TCP1 subunit 7 pseudogene 2 pseudogene pseudogene Approved 5q14.3 05q14.3 chaperonin containing TCP1, subunit 7 (eta) pseudogene 2 2008-09-22 2016-01-06 2020-04-20 100288772 ENSG00000249958 OTTHUMG00000162628 NG_008698 PGOHUM00000235311 HGNC:35134 -HGNC:1623 CCT8 chaperonin containing TCP1 subunit 8 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "Cctq|PRED71" C21orf112 "chromosome 21 open reading frame 112|chaperonin containing TCP1, subunit 8 (theta)" Chaperonins 587 1999-02-26 2016-01-06 2023-01-20 10694 ENSG00000156261 OTTHUMG00000044595 uc002ynb.5 Z37163 NM_001282907 "CCDS68181|CCDS33528|CCDS68180" P50990 7890169 MGI:107183 RGD:1305452 617786 HGNC:1623 "ENST00000286788.9|NM_006585.4" +HGNC:1623 CCT8 chaperonin containing TCP1 subunit 8 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "Cctq|PRED71" C21orf112 "chromosome 21 open reading frame 112|chaperonin containing TCP1, subunit 8 (theta)" Chaperonins 587 1999-02-26 2016-01-06 2023-01-20 10694 ENSG00000156261 OTTHUMG00000044595 uc002ynb.5 Z37163 NM_001282907 "CCDS33528|CCDS68180|CCDS68181" P50990 7890169 MGI:107183 RGD:1305452 617786 HGNC:1623 "ENST00000286788.9|NM_006585.4" HGNC:32153 CCT8L1P chaperonin containing TCP1 subunit 8 like 1, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 CCT8L1 "chaperonin containing TCP1, subunit 8 (theta)-like 1|chaperonin containing TCP1, subunit 8 (theta)-like 1, pseudogene" 2007-07-31 2011-09-01 2016-01-06 2023-03-15 155100 ENSG00000020219 OTTHUMG00000157297 NG_012242 A6NM43 MGI:2685289 HGNC:32153 HGNC:15553 CCT8L2 chaperonin containing TCP1 subunit 8 like 2 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 CESK1 chaperonin containing TCP1, subunit 8 (theta)-like 2 2007-07-31 2016-01-06 2023-01-20 150160 ENSG00000198445 OTTHUMG00000141302 uc002zlp.2 AP003553 NM_014406 CCDS13738 Q96SF2 MGI:2685289 RGD:1561536 HGNC:15553 "ENST00000359963.4|NM_014406.5" HGNC:35144 CCT8P1 chaperonin containing TCP1 subunit 8 pseudogene 1 pseudogene pseudogene Approved 1q21.1 01q21.1 chaperonin containing TCP1, subunit 8 (theta) pseudogene 1 2008-09-22 2016-01-06 2016-01-06 644131 ENSG00000226015 OTTHUMG00000041050 NG_016732 HGNC:35144 @@ -3861,8 +3861,8 @@ HGNC:55746 CCZ1P1 CCZ1 pseudogene 1 pseudogene pseudogene Approved 7q21.3 07q21. HGNC:1634 CD1A CD1a molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CD1 "CD1A antigen, a polypeptide|CD1a antigen" "CD molecules|C1-set domain containing" "471|591" 1988-05-11 2006-03-28 2023-01-20 909 ENSG00000158477 OTTHUMG00000017512 uc001frt.4 M28825 NM_001763 CCDS1174 P06126 "2447586|2784820" 188370 CD1a HGNC:1634 "ENST00000289429.6|NM_001763.3" HGNC:1635 CD1B CD1b molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CD1 "CD1B antigen, b polypeptide|CD1b antigen" "CD molecules|C1-set domain containing" "471|591" 1988-05-11 2006-03-28 2023-01-20 910 ENSG00000158485 OTTHUMG00000017513 uc001frx.4 M28826 NM_001764 CCDS1176 P29016 2447586 188360 CD1b HGNC:1635 "ENST00000368168.4|NM_001764.3" HGNC:1636 CD1C CD1c molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CD1 "CD1C antigen, c polypeptide|CD1c antigen" "CD molecules|C1-set domain containing" "471|591" 1988-05-11 2006-03-28 2023-01-20 911 ENSG00000158481 OTTHUMG00000017514 uc001fru.4 M28827 NM_001765 CCDS1175 P29017 2447586 188340 CD1c HGNC:1636 "ENST00000368170.8|NM_001765.3" -HGNC:1637 CD1D CD1d molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "CD1D antigen, d polypeptide|CD1d antigen" "CD molecules|C1-set domain containing" "471|591" 1990-06-11 2006-03-28 2023-01-20 912 ENSG00000158473 OTTHUMG00000022436 uc001frr.4 BC027926 NM_001766 "CCDS1173|CCDS91074|CCDS91075" P15813 2463622 "MGI:107674|MGI:107675" RGD:2296 188410 objectId:2997 CD1d HGNC:1637 "ENST00000674085.2|NM_001371762.2" -HGNC:1638 CD1E CD1e molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "CD1E antigen, e polypeptide|CD1e antigen" "CD molecules|C1-set domain containing" "471|591" 1990-06-11 2006-03-28 2023-01-20 913 ENSG00000158488 OTTHUMG00000017515 uc001fse.4 AJ289111 NM_030893 "CCDS53388|CCDS53384|CCDS53385|CCDS53386|CCDS53387|CCDS41418|CCDS41422|CCDS53389|CCDS53390|CCDS41417|CCDS41421|CCDS41419|CCDS41420" P15812 10948205 188411 CD1e HGNC:1638 "ENST00000368167.8|NM_030893.4" +HGNC:1637 CD1D CD1d molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "CD1D antigen, d polypeptide|CD1d antigen" "CD molecules|C1-set domain containing" "471|591" 1990-06-11 2006-03-28 2023-01-20 912 ENSG00000158473 OTTHUMG00000022436 uc001frr.4 BC027926 NM_001766 "CCDS91075|CCDS91074|CCDS1173" P15813 2463622 "MGI:107674|MGI:107675" RGD:2296 188410 objectId:2997 CD1d HGNC:1637 "ENST00000674085.2|NM_001371762.2" +HGNC:1638 CD1E CD1e molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "CD1E antigen, e polypeptide|CD1e antigen" "CD molecules|C1-set domain containing" "471|591" 1990-06-11 2006-03-28 2023-01-20 913 ENSG00000158488 OTTHUMG00000017515 uc001fse.4 AJ289111 NM_030893 "CCDS41417|CCDS41420|CCDS41418|CCDS53387|CCDS53385|CCDS53388|CCDS53386|CCDS53389|CCDS53384|CCDS41422|CCDS41421|CCDS41419|CCDS53390" P15812 10948205 188411 CD1e HGNC:1638 "ENST00000368167.8|NM_030893.4" HGNC:1639 CD2 CD2 molecule protein-coding gene gene with protein product Approved 1p13.1 01p13.1 SRBC CD2 antigen (p50), sheep red blood cell receptor "CD molecules|V-set domain containing|C2-set domain containing|Ig-like cell adhesion molecule family" "471|590|592|1410" 1986-01-01 2006-03-28 2023-01-20 914 ENSG00000116824 OTTHUMG00000022750 uc001egu.5 BC033583 NM_001767 CCDS889 P06729 2437578 MGI:88320 RGD:2297 186990 objectId:2600 CD2 HGNC:1639 "ENST00000369478.4|NM_001767.5" HGNC:14258 CD2AP CD2 associated protein protein-coding gene gene with protein product Approved 6p12.3 06p12.3 CMS Cas ligand with multiple Src homology (SH) 3 domains 2000-12-14 2016-07-04 2023-01-20 23607 ENSG00000198087 OTTHUMG00000014799 uc003oyw.4 AF146277 NM_012120 CCDS34472 Q9Y5K6 "9741631|10339567|30612599" MGI:1330281 RGD:727803 604241 236656 HGNC:14258 "ENST00000359314.5|NM_012120.3" HGNC:14258 HGNC:55263 CD2AP-DT CD2AP divergent transcript non-coding RNA RNA, long non-coding Approved 6p12.3 06p12.3 Divergent transcripts 1990 2020-09-27 2020-09-27 118732299 ENSG00000270761 @@ -3874,15 +3874,15 @@ HGNC:1675 CD3G CD3 gamma subunit of T-cell receptor complex protein-coding gene HGNC:1678 CD4 CD4 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "T4|Leu-3" "CD4 antigen (p55)|T-cell surface glycoprotein CD4" "CD molecules|V-set domain containing|C2-set domain containing" "471|590|592" 1986-01-01 2006-03-28 2023-01-20 920 ENSG00000010610 OTTHUMG00000168514 uc001qqv.3 M35160 NM_000616 CCDS8562 P01730 "3077302|3109457" MGI:88335 RGD:2306 186940 objectId:2995 CD4 HGNC:1678 "ENST00000011653.9|NM_000616.5" HGNC:1685 CD5 CD5 molecule protein-coding gene gene with protein product Approved 11q12.2 11q12.2 T1 LEU1 CD5 antigen (p56-62) "CD molecules|Scavenger receptor cysteine rich domain containing" "471|1404" 1986-01-01 2006-03-28 2023-01-20 921 ENSG00000110448 OTTHUMG00000167825 uc009ynk.4 X04391 NM_014207 CCDS8000 P06127 1711157 MGI:88340 RGD:2309 153340 CD5 HGNC:1685 "ENST00000347785.8|NM_014207.4" HGNC:1690 CD5L CD5 molecule like protein-coding gene gene with protein product Approved 1q23.1 01q23.1 Spalpha API6 "apoptosis inhibitor 6|CD5 antigen-like (scavenger receptor cysteine rich family)|CD5 molecule-like" Scavenger receptor cysteine rich domain containing 1404 1998-05-11 2015-11-30 2023-01-20 922 ENSG00000073754 OTTHUMG00000022440 uc001frk.5 U82812 NM_005894 CCDS1171 O43866 9045627 MGI:1334419 RGD:1308526 602592 HGNC:1690 "ENST00000368174.5|NM_005894.3" -HGNC:1691 CD6 CD6 molecule protein-coding gene gene with protein product Approved 11q12.2 11q12.2 Tp120 CD6 antigen "CD molecules|Scavenger receptor cysteine rich domain containing" "471|1404" 1997-07-04 2006-03-28 2023-01-20 923 ENSG00000013725 OTTHUMG00000167823 uc001nqq.4 NM_006725 "CCDS58138|CCDS58137|CCDS7999" P30203 9013954 MGI:103566 RGD:2312 186720 objectId:2917 CD6 HGNC:1691 "ENST00000313421.11|NM_006725.5" +HGNC:1691 CD6 CD6 molecule protein-coding gene gene with protein product Approved 11q12.2 11q12.2 Tp120 CD6 antigen "CD molecules|Scavenger receptor cysteine rich domain containing" "471|1404" 1997-07-04 2006-03-28 2023-01-20 923 ENSG00000013725 OTTHUMG00000167823 uc001nqq.4 NM_006725 "CCDS58137|CCDS58138|CCDS7999" P30203 9013954 MGI:103566 RGD:2312 186720 objectId:2917 CD6 HGNC:1691 "ENST00000313421.11|NM_006725.5" HGNC:1695 CD7 CD7 molecule protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "GP40|LEU-9|TP41|Tp40" "p41 protein|T-cell antigen CD7|T-cell leukemia antigen" CD7 antigen (p41) "CD molecules|V-set domain containing" "471|590" 1986-01-01 2006-03-28 2023-01-20 924 ENSG00000173762 OTTHUMG00000178662 uc002kel.2 X06180 NM_006137 CCDS11807 P09564 "1695199|3501369" MGI:88344 RGD:1310015 186820 CD7 HGNC:1695 "ENST00000312648.8|NM_006137.7" HGNC:1706 CD8A CD8 subunit alpha protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "p32|CD8alpha" CD8 "CD8 antigen, alpha polypeptide (p32)|T-cell surface glycoprotein CD8 alpha chain|CD8a molecule" "CD molecules|V-set domain containing" "471|590" 1986-01-01 2023-01-05 2023-01-20 925 ENSG00000153563 OTTHUMG00000130265 uc002srv.4 NM_001768 "CCDS1993|CCDS1992" P01732 "2496167|17658607" MGI:88346 RGD:2316 "CD8Abase: Mutation registry for CD8 deficiency|http://structure.bmc.lu.se/idbase/CD8Abase/|LRG_44|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_44.xml" 186910 221184 CD8a HGNC:1706 "ENST00000283635.8|NM_001768.7" HGNC:1706 -HGNC:1707 CD8B CD8 subunit beta protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "Ly-3|LYT3|P37|CD8beta" "T-cell surface glycoprotein CD8 beta chain|Ly-3 homolog (mouse)" CD8B1 "CD8 antigen, beta polypeptide 1 (p37)|CD8b molecule" "CD molecules|V-set domain containing" "471|590" 1989-04-13 2006-03-09 2023-01-05 2023-03-15 926 ENSG00000172116 OTTHUMG00000130264 uc002srw.4 NM_172099 "CCDS42708|CCDS1995|CCDS1994|CCDS54376|CCDS1997" P10966 "1541829|3257101" MGI:88347 RGD:2317 186730 CD8b HGNC:1707 "ENST00000390655.12|NM_004931.5" +HGNC:1707 CD8B CD8 subunit beta protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "Ly-3|LYT3|P37|CD8beta" "T-cell surface glycoprotein CD8 beta chain|Ly-3 homolog (mouse)" CD8B1 "CD8 antigen, beta polypeptide 1 (p37)|CD8b molecule" "CD molecules|V-set domain containing" "471|590" 1989-04-13 2006-03-09 2023-01-05 2023-03-15 926 ENSG00000172116 OTTHUMG00000130264 uc002srw.4 NM_172099 "CCDS1995|CCDS42708|CCDS1994|CCDS1997|CCDS54376" P10966 "1541829|3257101" MGI:88347 RGD:2317 186730 CD8b HGNC:1707 "ENST00000390655.12|NM_004931.5" HGNC:1708 CD8B2 CD8B family member 2 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 CD8BP "CD8 antigen, beta polypeptide 2, pseudogene (p37)|CD8b molecule pseudogene|CD8b2 molecule" 1992-07-29 2017-03-30 2023-01-05 2023-01-20 927 ENSG00000254126 OTTHUMG00000153183 NM_001349727 "CCDS86870|CCDS92827" A6NJW9 1541829 MGI:88347 PGOHUM00000250471 HGNC:1708 "ENST00000643224.2|NM_001349727.2" -HGNC:1709 CD9 CD9 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "BA2|P24|TSPAN29|MRP-1" "motility related protein-1|Tetraspanin-29" MIC3 CD9 antigen (p24) "CD molecules|Tetraspanins" "471|768" 1986-01-01 2006-03-28 2023-01-20 928 ENSG00000010278 OTTHUMG00000044400 uc058kcc.1 M38690 NM_001330312 "CCDS81654|CCDS8540" P21926 "6198179|29760699" MGI:88348 RGD:2318 LRG_1189|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1189.xml 143030 CD9 HGNC:1709 "ENST00000009180.10|NM_001769.4" +HGNC:1709 CD9 CD9 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "BA2|P24|TSPAN29|MRP-1" "motility related protein-1|Tetraspanin-29" MIC3 CD9 antigen (p24) "CD molecules|Tetraspanins" "471|768" 1986-01-01 2006-03-28 2023-01-20 928 ENSG00000010278 OTTHUMG00000044400 uc058kcc.1 M38690 NM_001330312 "CCDS8540|CCDS81654" P21926 "6198179|29760699" MGI:88348 RGD:2318 LRG_1189|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1189.xml 143030 CD9 HGNC:1709 "ENST00000009180.10|NM_001769.4" HGNC:1628 CD14 CD14 molecule protein-coding gene gene with protein product Approved 5q31.3 05q31.3 CD14 antigen "CD molecules|Scavenger receptors" "471|1253" 1988-05-31 2006-03-28 2023-01-20 929 ENSG00000170458 OTTHUMG00000129507 uc021yej.1 NM_000591 CCDS4232 P08571 "2472171|2462937" MGI:88318 RGD:620588 158120 objectId:3126 CD14 HGNC:1628 "ENST00000302014.11|NM_000591.4" -HGNC:1633 CD19 CD19 molecule protein-coding gene gene with protein product Approved 16p11.2 16p11.2 CD19 antigen "CD molecules|Immunoglobulin like domain containing|Minor histocompatibility antigens" "471|594|870" 1991-06-04 2006-03-28 2023-01-20 930 ENSG00000177455 OTTHUMG00000097049 uc002drs.4 NM_001178098 "CCDS10644|CCDS53998" P15391 MGI:88319 RGD:1309086 "CD19base: Mutation registry for CD19 deficiency|http://structure.bmc.lu.se/idbase/CD19base/|LRG_35|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_35.xml" 107265 119235 objectId:2764 CD19 HGNC:1633 "ENST00000538922.8|NM_001770.6" HGNC:1633 -HGNC:1643 CD22 CD22 molecule protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "SIGLEC-2|SIGLEC2" sialic acid binding Ig-like lectin 2 CD22 antigen "CD molecules|C2-set domain containing|Sialic acid binding Ig like lectins|MicroRNA protein coding host genes" "471|592|745|1691" 1991-06-06 2006-03-28 2023-01-20 933 ENSG00000012124 OTTHUMG00000183298 uc010edt.5 X52785 NM_001771 "CCDS54247|CCDS62634|CCDS54249|CCDS54248|CCDS12457" P20273 "8496602|1691828" MGI:88322 RGD:1311610 107266 objectId:2786 CD22 HGNC:1643 "ENST00000085219.10|NM_001771.4" +HGNC:1633 CD19 CD19 molecule protein-coding gene gene with protein product Approved 16p11.2 16p11.2 CD19 antigen "CD molecules|Immunoglobulin like domain containing|Minor histocompatibility antigens" "471|594|870" 1991-06-04 2006-03-28 2023-01-20 930 ENSG00000177455 OTTHUMG00000097049 uc002drs.4 NM_001178098 "CCDS53998|CCDS10644" P15391 MGI:88319 RGD:1309086 "CD19base: Mutation registry for CD19 deficiency|http://structure.bmc.lu.se/idbase/CD19base/|LRG_35|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_35.xml" 107265 119235 objectId:2764 CD19 HGNC:1633 "ENST00000538922.8|NM_001770.6" HGNC:1633 +HGNC:1643 CD22 CD22 molecule protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "SIGLEC-2|SIGLEC2" sialic acid binding Ig-like lectin 2 CD22 antigen "CD molecules|C2-set domain containing|Sialic acid binding Ig like lectins|MicroRNA protein coding host genes" "471|592|745|1691" 1991-06-06 2006-03-28 2023-01-20 933 ENSG00000012124 OTTHUMG00000183298 uc010edt.5 X52785 NM_001771 "CCDS54248|CCDS62634|CCDS54249|CCDS54247|CCDS12457" P20273 "8496602|1691828" MGI:88322 RGD:1311610 107266 objectId:2786 CD22 HGNC:1643 "ENST00000085219.10|NM_001771.4" HGNC:1645 CD24 CD24 molecule protein-coding gene gene with protein product Approved 6q21 06q21 CD24A CD24 antigen (small cell lung carcinoma cluster 4 antigen) CD molecules 471 1994-09-07 2006-03-28 2023-01-20 100133941 ENSG00000272398 OTTHUMG00000188439 uc032xhc.2 NM_013230 "CCDS78166|CCDS75499" P25063 7959762 MGI:88323 RGD:2298 600074 139155 objectId:3170 CD24 HGNC:1645 "ENST00000606017.2|NM_001359084.1" HGNC:1646 CD24P1 CD24 molecule pseudogene 1 pseudogene pseudogene Approved 1p36.21 01p36.21 CD24L1 "CD24 antigen-like 1|CD24 molecule-like 1" 1994-09-07 2012-04-17 2012-04-17 2016-10-05 935 ENSG00000236500 OTTHUMG00000002361 NG_009856 7959762 HGNC:1646 HGNC:1647 CD24P2 CD24 molecule pseudogene 2 pseudogene pseudogene Approved 15q21.3 15q21.3 CD24L2 "CD24 antigen-like 2|CD24 molecule-like 2" 1994-09-07 2010-10-11 2010-10-11 2012-04-17 936 ENSG00000261333 OTTHUMG00000176398 NG_009857 7959762 HGNC:1647 @@ -3891,49 +3891,49 @@ HGNC:1649 CD24P4 CD24 molecule pseudogene 4 pseudogene pseudogene Approved Yq11. HGNC:56381 CD24P5 CD24 pseudogene 5 pseudogene pseudogene Approved 3p26.1 03p26.1 2022-10-18 2022-10-18 127379728 ENSG00000237566 NG_115715 HGNC:11922 CD27 CD27 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "S152|Tp55" "CD27 antigen|T-cell activation antigen S152" TNFRSF7 tumor necrosis factor receptor superfamily, member 7 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1992-06-10 2006-10-27 2006-10-27 2023-01-20 939 ENSG00000139193 OTTHUMG00000168316 uc001qod.4 M63928 NM_001242 CCDS8545 P26842 "2442250|8530100" MGI:88326 RGD:1560499 LRG_357|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_357.xml 186711 356847 objectId:1876 CD27 HGNC:11922 "ENST00000266557.4|NM_001242.5" HGNC:11922 HGNC:43896 CD27-AS1 CD27 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 CD27 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-04-27 2012-08-15 2012-10-12 678655 ENSG00000215039 OTTHUMG00000168315 uc058kep.1 AK056500 NR_015382 CD27-AS1 HGNC:43896 -HGNC:1653 CD28 CD28 molecule protein-coding gene gene with protein product Approved 2q33.2 02q33.2 T-cell-specific surface glycoprotein CD28 antigen (Tp44) "CD molecules|V-set domain containing|Ig-like cell adhesion molecule family" "471|590|1410" 1988-05-11 2006-03-28 2023-01-20 940 ENSG00000178562 OTTHUMG00000132878 uc002vah.6 J02988 NM_006139 "CCDS2361|CCDS92935|CCDS58749" P10747 1355979 MGI:88327 RGD:2299 186760 448537 objectId:2863 CD28 HGNC:1653 "ENST00000324106.9|NM_006139.4" -HGNC:1659 CD33 CD33 molecule protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SIGLEC3|SIGLEC-3|p67|FLJ00391" sialic acid binding Ig-like lectin 3 CD33 antigen (gp67) "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 1986-01-01 2006-03-28 2023-01-20 945 ENSG00000105383 OTTHUMG00000182891 uc002pwa.3 M23197 NM_001772 "CCDS54299|CCDS33084|CCDS46157" P20138 "3139766|9465907" MGI:99440 RGD:1596020 159590 objectId:2601 CD33 HGNC:1659 "ENST00000262262.5|NM_001772.4" +HGNC:1653 CD28 CD28 molecule protein-coding gene gene with protein product Approved 2q33.2 02q33.2 T-cell-specific surface glycoprotein CD28 antigen (Tp44) "CD molecules|V-set domain containing|Ig-like cell adhesion molecule family" "471|590|1410" 1988-05-11 2006-03-28 2023-01-20 940 ENSG00000178562 OTTHUMG00000132878 uc002vah.6 J02988 NM_006139 "CCDS92935|CCDS58749|CCDS2361" P10747 1355979 MGI:88327 RGD:2299 186760 448537 objectId:2863 CD28 HGNC:1653 "ENST00000324106.9|NM_006139.4" +HGNC:1659 CD33 CD33 molecule protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SIGLEC3|SIGLEC-3|p67|FLJ00391" sialic acid binding Ig-like lectin 3 CD33 antigen (gp67) "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 1986-01-01 2006-03-28 2023-01-20 945 ENSG00000105383 OTTHUMG00000182891 uc002pwa.3 M23197 NM_001772 "CCDS54299|CCDS46157|CCDS33084" P20138 "3139766|9465907" MGI:99440 RGD:1596020 159590 objectId:2601 CD33 HGNC:1659 "ENST00000262262.5|NM_001772.4" HGNC:1662 CD34 CD34 molecule protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "Hematopoietic progenitor cell antigen CD34|CD34 sialomucin" CD34 antigen CD molecules 471 1990-09-10 2006-03-28 2023-01-20 947 ENSG00000174059 OTTHUMG00000036565 uc001hgw.2 M81104 NM_001773 "CCDS31012|CCDS31011" P28906 "1370171|1374051" MGI:88329 RGD:1306863 142230 CD34 HGNC:1662 "ENST00000310833.12|NM_001025109.2" -HGNC:1663 CD36 CD36 molecule protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "SCARB3|GPIV|FAT|GP4|GP3B|GPIIIB" "scavenger receptor class B member 3|Platelet glycoprotein 4|fatty acid translocase" "CD36 antigen (collagen type I receptor, thrombospondin receptor)|CD36 molecule (thrombospondin receptor)" "CD molecules|Scavenger receptors" "471|1253" 1993-06-04 2016-01-06 2023-01-20 948 ENSG00000135218 OTTHUMG00000155383 uc003uhc.4 Z32770 NM_001001547 "CCDS78249|CCDS34673|CCDS78250|CCDS78251" P16671 "7503937|19471024" MGI:107899 RGD:2301 173510 objectId:3104 CD36 HGNC:1663 "ENST00000447544.7|NM_001001548.3" HGNC:1663 -HGNC:1666 CD37 CD37 molecule protein-coding gene gene with protein product Approved 19q13.33 19q13.33 TSPAN26 CD37 antigen "CD molecules|Tetraspanins" "471|768" 1993-06-18 2006-03-28 2023-01-20 951 ENSG00000104894 OTTHUMG00000183183 uc002pnd.4 NM_001040031 "CCDS46139|CCDS12760" P11049 8436422 MGI:88330 RGD:62035 151523 objectId:3010 CD37 HGNC:1666 "ENST00000323906.9|NM_001774.3" +HGNC:1663 CD36 CD36 molecule protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "SCARB3|GPIV|FAT|GP4|GP3B|GPIIIB" "scavenger receptor class B member 3|Platelet glycoprotein 4|fatty acid translocase" "CD36 antigen (collagen type I receptor, thrombospondin receptor)|CD36 molecule (thrombospondin receptor)" "CD molecules|Scavenger receptors" "471|1253" 1993-06-04 2016-01-06 2023-01-20 948 ENSG00000135218 OTTHUMG00000155383 uc003uhc.4 Z32770 NM_001001547 "CCDS78249|CCDS78250|CCDS34673|CCDS78251" P16671 "7503937|19471024" MGI:107899 RGD:2301 173510 objectId:3104 CD36 HGNC:1663 "ENST00000447544.7|NM_001001548.3" HGNC:1663 +HGNC:1666 CD37 CD37 molecule protein-coding gene gene with protein product Approved 19q13.33 19q13.33 TSPAN26 CD37 antigen "CD molecules|Tetraspanins" "471|768" 1993-06-18 2006-03-28 2023-01-20 951 ENSG00000104894 OTTHUMG00000183183 uc002pnd.4 NM_001040031 "CCDS12760|CCDS46139" P11049 8436422 MGI:88330 RGD:62035 151523 objectId:3010 CD37 HGNC:1666 "ENST00000323906.9|NM_001774.3" HGNC:1667 CD38 CD38 molecule protein-coding gene gene with protein product Approved 4p15.32 04p15.32 cADPR1 "ADP-ribosyl cyclase 1|NAD(+) nucleosidase" CD38 antigen (p45) CD molecules 471 1986-01-01 2006-03-28 2023-01-20 952 ENSG00000004468 OTTHUMG00000048206 uc003gol.2 D84276 NM_001775 CCDS3417 P28907 "9074508|2319135" MGI:107474 RGD:2303 107270 objectId:2766 CD38 3.2.2.6 HGNC:1667 "ENST00000226279.8|NM_001775.4" -HGNC:11919 CD40 CD40 molecule protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "p50|Bp50" TNFRSF5 "tumor necrosis factor receptor superfamily, member 5|CD40 molecule, TNF receptor superfamily member 5" "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1993-08-27 2005-01-14 2016-01-13 2023-01-20 958 ENSG00000101017 OTTHUMG00000033053 uc002xrg.2 X60592 NM_001250 "CCDS93053|CCDS13393|CCDS13394" P25942 "7687385|2998589" MGI:88336 RGD:619830 "CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base)|http://structure.bmc.lu.se/idbase/CD40base/|LRG_40|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_40.xml" 109535 119244 objectId:1874 CD40 HGNC:11919 "ENST00000372285.8|NM_001250.6" HGNC:11919 +HGNC:11919 CD40 CD40 molecule protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "p50|Bp50" TNFRSF5 "tumor necrosis factor receptor superfamily, member 5|CD40 molecule, TNF receptor superfamily member 5" "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1993-08-27 2005-01-14 2016-01-13 2023-01-20 958 ENSG00000101017 OTTHUMG00000033053 uc002xrg.2 X60592 NM_001250 "CCDS93053|CCDS13394|CCDS13393" P25942 "7687385|2998589" MGI:88336 RGD:619830 "CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base)|http://structure.bmc.lu.se/idbase/CD40base/|LRG_40|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_40.xml" 109535 119244 objectId:1874 CD40 HGNC:11919 "ENST00000372285.8|NM_001250.6" HGNC:11919 HGNC:11935 CD40LG CD40 ligand protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CD40L|TRAP|gp39|hCD40L|CD154|CD40-L|HIGM1|T-BAM" "CD40 antigen ligand|tumor necrosis factor (ligand) superfamily member 5|T-B cell-activating molecule|TNF-related activation protein|hyper-IgM syndrome" "HIGM1|IMD3|TNFSF5" tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) "CD molecules|Tumor necrosis factor superfamily" "471|781" 1989-06-30 2005-01-14 2008-08-01 2023-01-20 959 ENSG00000102245 OTTHUMG00000022512 uc004faa.4 X67878 NM_000074 CCDS14659 P29965 "1427881|7678782|1280226|31331973" MGI:88337 RGD:708418 "CD40Lbase: Mutation registry for X-linked Hyper-IgM syndrome|http://structure.bmc.lu.se/idbase/CD40Lbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CD40LG|LRG_141|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_141.xml" 300386 119249 ligandId:5077 CD154 HGNC:11935 "ENST00000370629.7|NM_000074.3" HGNC:11935 -HGNC:1681 CD44 CD44 molecule (Indian blood group) protein-coding gene gene with protein product Approved 11p13 11p13 "IN|MC56|Pgp1|PGP-1|CD44R|HCELL|CSPG8|Hermes-1|CDw44|HUTCH-1|HUTCH-I|ECM-III|H-CAM" "hematopoietic cell E- and L-selectin ligand|chondroitin sulfate proteoglycan 8|phagocyte glycoprotein 1|In(Lu) related-p80|extracellular matrix receptor-III|homing cell adhesion molecule" "MIC4|MDU2|MDU3" CD44 antigen (homing function and Indian blood group system) "Blood group antigens|CD molecules|Proteoglycans" "454|471|570" 1989-06-30 2006-03-28 2023-01-20 960 ENSG00000026508 OTTHUMG00000044388 uc001mvu.4 M59040 NM_000610 "CCDS31455|CCDS7897|CCDS31456|CCDS31458|CCDS55754|CCDS55755|CCDS31457" P16070 "2454887|31654718" MGI:88338 RGD:2307 LRG_815|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_815.xml 107269 CD44R HGNC:1681 "ENST00000428726.8|NM_000610.4" +HGNC:1681 CD44 CD44 molecule (Indian blood group) protein-coding gene gene with protein product Approved 11p13 11p13 "IN|MC56|Pgp1|PGP-1|CD44R|HCELL|CSPG8|Hermes-1|CDw44|HUTCH-1|HUTCH-I|ECM-III|H-CAM" "hematopoietic cell E- and L-selectin ligand|chondroitin sulfate proteoglycan 8|phagocyte glycoprotein 1|In(Lu) related-p80|extracellular matrix receptor-III|homing cell adhesion molecule" "MIC4|MDU2|MDU3" CD44 antigen (homing function and Indian blood group system) "Blood group antigens|CD molecules|Proteoglycans" "454|471|570" 1989-06-30 2006-03-28 2023-01-20 960 ENSG00000026508 OTTHUMG00000044388 uc001mvu.4 M59040 NM_000610 "CCDS55755|CCDS55754|CCDS31457|CCDS31456|CCDS31458|CCDS7897|CCDS31455" P16070 "2454887|31654718" MGI:88338 RGD:2307 LRG_815|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_815.xml 107269 CD44R HGNC:1681 "ENST00000428726.8|NM_000610.4" HGNC:40133 CD44-AS1 CD44 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p13 11p13 RP1-68D18.4 Antisense RNAs 1987 2017-02-10 2017-02-10 109729172 ENSG00000255443 OTTHUMG00000166327 NR_174965 28103885 HGNC:56175 CD44-DT CD44 divergent transcript non-coding RNA RNA, long non-coding Approved 11p13 11p13 Divergent transcripts 1990 2022-01-14 2022-01-14 100507144 ENSG00000255521 NR_120528 -HGNC:6953 CD46 CD46 molecule protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "TRA2.10|MGC26544|TLX" trophoblast-lymphocyte cross-reactive antigen "MIC10|MCP" "antigen identified by monoclonal antibody TRA-2-10|membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)|CD46 antigen, complement regulatory protein|CD46 molecule, complement regulatory protein" "CD molecules|Sushi domain containing|Complement system regulators and receptors" "471|1179|1639" 1988-08-31 2006-02-09 2016-01-06 2023-03-15 4179 ENSG00000117335 OTTHUMG00000036397 uc001hgj.4 BC030594 NM_172361 "CCDS1480|CCDS31008|CCDS31009|CCDS1479|CCDS86048|CCDS1484|CCDS1485|CCDS1481|CCDS1482" P15529 "7929741|24120647" MGI:1203290 RGD:3061 LRG_155|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_155.xml 120920 119259 CD46 HGNC:6953 "ENST00000367042.6|NM_172351.3" HGNC:6953 +HGNC:6953 CD46 CD46 molecule protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "TRA2.10|MGC26544|TLX" trophoblast-lymphocyte cross-reactive antigen "MIC10|MCP" "antigen identified by monoclonal antibody TRA-2-10|membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)|CD46 antigen, complement regulatory protein|CD46 molecule, complement regulatory protein" "CD molecules|Sushi domain containing|Complement system regulators and receptors" "471|1179|1639" 1988-08-31 2006-02-09 2016-01-06 2023-03-15 4179 ENSG00000117335 OTTHUMG00000036397 uc001hgj.4 BC030594 NM_172361 "CCDS1482|CCDS31009|CCDS1481|CCDS86048|CCDS1485|CCDS31008|CCDS1484|CCDS1479|CCDS1480" P15529 "7929741|24120647" MGI:1203290 RGD:3061 LRG_155|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_155.xml 120920 119259 CD46 HGNC:6953 "ENST00000367042.6|NM_172351.3" HGNC:6953 HGNC:6959 CD46P1 CD46 molecule pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 "MCPL|CD46P" "membrane cofactor protein-like (CD46-like, trophoblast-lymphocyte cross-reactive antigen-like)|CD46 molecule, complement regulatory protein pseudogene|CD46 molecule, complement regulatory protein pseudogene 1" 1992-06-05 2010-03-02 2016-01-06 2016-10-05 4182 ENSG00000244703 OTTHUMG00000036355 M73721 NG_008252 1740338 PGOHUM00000245188 HGNC:6959 HGNC:1682 CD47 CD47 molecule protein-coding gene gene with protein product Approved 3q13.12 03q13.12 "IAP|OA3" "antigen identified by monoclonal antibody 1D8|antigenic surface determinant protein OA3|integrin associated protein|Rh-related antigen|leukocyte surface antigen CD47|CD47 glycoprotein" MER6 CD47 antigen (Rh-related antigen, integrin-associated signal transducer) "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1994-12-12 2006-03-28 2023-03-15 961 ENSG00000196776 OTTHUMG00000044216 uc003dwv.2 NM_001777 "CCDS43126|CCDS43125" Q08722 "8294396|2277087" MGI:96617 RGD:2308 601028 objectId:2943 CD47 HGNC:1682 "ENST00000361309.6|NM_001777.4" HGNC:1683 CD48 CD48 molecule protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "BLAST|mCD48|hCD48|SLAMF2" BCM1 "CD48 antigen (B-cell membrane protein)|CD48 molecule " "CD molecules|V-set domain containing" "471|590" 1986-01-01 2006-03-31 2023-01-20 962 ENSG00000117091 OTTHUMG00000024009 uc001fwn.4 BC016182 NM_001778 "CCDS1208|CCDS72955" P09326 2828034 MGI:88339 RGD:620620 109530 CD48 HGNC:1683 "ENST00000368046.8|NM_001778.4" HGNC:1804 CD52 CD52 molecule protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "HE5|EDDM5" CDW52 CD52 antigen (CAMPATH-1 antigen) CD molecules 471 1991-12-12 2005-02-07 2006-03-28 2023-01-20 1043 ENSG00000169442 OTTHUMG00000003491 uc001bmc.4 NM_001803 CCDS30647 P31358 "1711975|11420384" MGI:1346088 RGD:620627 114280 objectId:2602 CD52 HGNC:1804 "ENST00000374213.3|NM_001803.3" HGNC:1686 CD53 CD53 molecule protein-coding gene gene with protein product Approved 1p13.3 01p13.3 TSPAN25 MOX44 CD53 antigen "CD molecules|Tetraspanins" "471|768" 1991-07-16 2006-03-28 2023-01-20 963 ENSG00000143119 OTTHUMG00000048020 uc001dzx.4 BC040693 NM_000560 CCDS829 P19397 8319976 MGI:88341 RGD:2310 151525 CD53 HGNC:1686 "ENST00000271324.6|NM_000560.4" -HGNC:2665 CD55 CD55 molecule (Cromer blood group) protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "CR|TC|CROM" DAF "decay accelerating factor for complement (CD55, Cromer blood group system)|CD55 molecule, decay accelerating factor for complement (Cromer blood group)" "Blood group antigens|CD molecules|Sushi domain containing|Complement system regulators and receptors" "454|471|1179|1639" 2001-06-22 2006-02-23 2016-01-06 2023-01-20 1604 ENSG00000196352 OTTHUMG00000036255 uc001hfq.5 BC001288 NM_000574 "CCDS86046|CCDS86047|CCDS31006|CCDS44307|CCDS73022" P08174 "2436222|29503741|28657829" "MGI:104850|MGI:104849" RGD:620651 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|CD55base: Mutation registry for Decay-accelerating factor (CD55) deficiency (previously known as DAFbase)|http://structure.bmc.lu.se/idbase/CD55base/|LRG_127|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_127.xml" 125240 CD55 HGNC:2665 "ENST00000367064.9|NM_000574.5" HGNC:2665 -HGNC:1688 CD58 CD58 molecule protein-coding gene gene with protein product Approved 1p13.1 01p13.1 LFA3 CD58 antigen, (lymphocyte function-associated antigen 3) "CD molecules|Ig-like cell adhesion molecule family|MicroRNA protein coding host genes" "471|1410|1691" 1989-04-06 2006-03-28 2023-01-20 965 ENSG00000116815 OTTHUMG00000022749 uc001egm.4 BC005930 NM_001779 "CCDS888|CCDS44199" P19256 9510189 153420 CD58 HGNC:1688 "ENST00000369489.10|NM_001779.3" +HGNC:2665 CD55 CD55 molecule (Cromer blood group) protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "CR|TC|CROM" DAF "decay accelerating factor for complement (CD55, Cromer blood group system)|CD55 molecule, decay accelerating factor for complement (Cromer blood group)" "Blood group antigens|CD molecules|Sushi domain containing|Complement system regulators and receptors" "454|471|1179|1639" 2001-06-22 2006-02-23 2016-01-06 2023-01-20 1604 ENSG00000196352 OTTHUMG00000036255 uc001hfq.5 BC001288 NM_000574 "CCDS86047|CCDS31006|CCDS44307|CCDS86046|CCDS73022" P08174 "2436222|29503741|28657829" "MGI:104850|MGI:104849" RGD:620651 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|CD55base: Mutation registry for Decay-accelerating factor (CD55) deficiency (previously known as DAFbase)|http://structure.bmc.lu.se/idbase/CD55base/|LRG_127|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_127.xml" 125240 CD55 HGNC:2665 "ENST00000367064.9|NM_000574.5" HGNC:2665 +HGNC:1688 CD58 CD58 molecule protein-coding gene gene with protein product Approved 1p13.1 01p13.1 LFA3 CD58 antigen, (lymphocyte function-associated antigen 3) "CD molecules|Ig-like cell adhesion molecule family|MicroRNA protein coding host genes" "471|1410|1691" 1989-04-06 2006-03-28 2023-01-20 965 ENSG00000116815 OTTHUMG00000022749 uc001egm.4 BC005930 NM_001779 "CCDS44199|CCDS888" P19256 9510189 153420 CD58 HGNC:1688 "ENST00000369489.10|NM_001779.3" HGNC:1689 CD59 CD59 molecule (CD59 blood group) protein-coding gene gene with protein product Approved 11p13 11p13 "16.3A5|EJ16|EJ30|EL32|G344|p18-20" "CD59 glycoprotein|membrane attack complex inhibition factor|membrane inhibitor of reactive lysis" "MIC11|MIN1|MSK21|MIN2|MIN3|MIRL|MACIF|HRF20" "CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)|CD59 antigen, complement regulatory protein|CD59 molecule, complement regulatory protein|CD59 molecule" "Blood group antigens|CD molecules|LY6/PLAUR domain containing|Complement system regulators and receptors" "454|471|1226|1639" 1989-06-30 2017-03-16 2023-01-20 966 ENSG00000085063 OTTHUMG00000166270 uc001muv.5 NM_203329 CCDS7886 P13987 "7691713|27187193|23149847" "MGI:109177|MGI:1888996" RGD:2311 "CD59base: Mutation registry for CD59 deficiency|http://structure.bmc.lu.se/idbase/CD59base/|LRG_41|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_41.xml" 107271 221173 CD59 HGNC:1689 "ENST00000642928.2|NM_000611.6" HGNC:1689 -HGNC:1692 CD63 CD63 molecule protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "ME491|TSPAN30" MLA1 CD63 antigen (melanoma 1 antigen) "CD molecules|Tetraspanins" "471|768" 1988-08-07 2006-03-28 2023-03-15 967 ENSG00000135404 OTTHUMG00000170454 uc031qhx.2 M58485 NM_001257389 "CCDS8890|CCDS58243|CCDS58242" P08962 MGI:99529 RGD:62080 155740 CD63 HGNC:1692 "ENST00000257857.9|NM_001780.6" +HGNC:1692 CD63 CD63 molecule protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "ME491|TSPAN30" MLA1 CD63 antigen (melanoma 1 antigen) "CD molecules|Tetraspanins" "471|768" 1988-08-07 2006-03-28 2023-03-15 967 ENSG00000135404 OTTHUMG00000170454 uc031qhx.2 M58485 NM_001257389 "CCDS58243|CCDS58242|CCDS8890" P08962 MGI:99529 RGD:62080 155740 CD63 HGNC:1692 "ENST00000257857.9|NM_001780.6" HGNC:55455 CD63-AS1 CD63 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.2 12q13.2 Antisense RNAs 1987 2021-01-20 2021-01-20 105369779 ENSG00000258056 NR_183514 HGNC:1693 CD68 CD68 molecule protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "SCARD1|GP110|DKFZp686M18236|LAMP4" "scavenger receptor class D, member 1|CD68 antigen|macrophage antigen CD68|macrosialin" CD68 antigen "CD molecules|Scavenger receptors|Lysosome associated membrane proteins" "471|1253|1910" 1993-06-11 2006-03-28 2023-01-20 968 ENSG00000129226 OTTHUMG00000108146 uc002ghv.4 S57235 NM_001251 "CCDS11114|CCDS58512" P34810 9790779 MGI:88342 RGD:1305970 153634 CD68 HGNC:1693 "ENST00000250092.11|NM_001251.3" HGNC:1694 CD69 CD69 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 CLEC2C CD69 antigen (p60, early T-cell activation antigen) "CD molecules|C-type lectin domain containing" "471|1298" 1992-08-06 2006-03-28 2023-01-20 969 ENSG00000110848 OTTHUMG00000168481 uc001qwk.3 Z22576 NM_001781 CCDS8604 Q07108 1612643 MGI:88343 RGD:61318 107273 CD69 HGNC:1694 "ENST00000228434.7|NM_001781.2" HGNC:11937 CD70 CD70 molecule protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CD27L|CD27-L" "CD70 antigen|CD27 ligand" "CD27LG|TNFSF7" tumor necrosis factor (ligand) superfamily, member 7 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1993-11-08 2006-10-27 2006-10-27 2023-01-20 970 ENSG00000125726 OTTHUMG00000181834 uc002mfi.3 L08096 NM_001252 "CCDS12170|CCDS82283" P32970 "8387892|8120384|33996677" MGI:1195273 RGD:1588573 602840 470052 ligandId:5079 CD70 HGNC:11937 "ENST00000245903.4|NM_001252.5" HGNC:11937 HGNC:1696 CD72 CD72 molecule protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "LYB2|CD72b" CD72 antigen "CD molecules|C-type lectin domain containing" "471|1298" 1991-10-04 2006-03-28 2023-01-20 971 ENSG00000137101 OTTHUMG00000019870 uc064sxd.1 NM_001782 CCDS6581 P21854 "2044654|1711157" MGI:88345 RGD:1309757 107272 CD72 HGNC:1696 "ENST00000259633.9|NM_001782.3" HGNC:1697 CD74 CD74 molecule protein-coding gene gene with protein product Approved 5q33.1 05q33.1 CLIP "HLA-DR-gamma|Ia-associated invariant chain|gamma chain of class II antigens|MHC HLA-DR gamma chain|class II MHC-associated invariant chain peptide" DHLAG "CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)|CD74 molecule, major histocompatibility complex, class II invariant chain" CD molecules 471 1986-01-01 2016-01-06 2023-01-20 972 ENSG00000019582 OTTHUMG00000163559 uc003lse.4 NM_004355 "CCDS47308|CCDS34276|CCDS47309" P04233 "6324166|3001652" MGI:96534 RGD:2313 CD74 142790 I31.002 objectId:2840 CD74 HGNC:1697 "ENST00000009530.13|NM_001025159.3" -HGNC:1698 CD79A CD79a molecule protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "MB-1|Ig-alpha|MB1|IGAlpha" B-cell antigen receptor complex-associated protein alpha chain IGA "CD79A antigen (immunoglobulin-associated alpha)|CD79a molecule, immunoglobulin-associated alpha" "CD molecules|V-set domain containing" "471|590" 1992-07-31 2015-11-19 2023-01-20 973 ENSG00000105369 OTTHUMG00000182678 uc002orv.3 M80462 NM_001783 "CCDS12589|CCDS46088" P11912 "1538135|10525050" MGI:101774 RGD:6484896 "CD79Abase: Mutation registry for Igα deficiency|http://structure.bmc.lu.se/idbase/CD79Abase/|LRG_42|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_42.xml" CD79A 112205 221180 CD79a HGNC:1698 "ENST00000221972.8|NM_001783.4" HGNC:1698 +HGNC:1698 CD79A CD79a molecule protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "MB-1|Ig-alpha|MB1|IGAlpha" B-cell antigen receptor complex-associated protein alpha chain IGA "CD79A antigen (immunoglobulin-associated alpha)|CD79a molecule, immunoglobulin-associated alpha" "CD molecules|V-set domain containing" "471|590" 1992-07-31 2015-11-19 2023-01-20 973 ENSG00000105369 OTTHUMG00000182678 uc002orv.3 M80462 NM_001783 "CCDS46088|CCDS12589" P11912 "1538135|10525050" MGI:101774 RGD:6484896 "CD79Abase: Mutation registry for Igα deficiency|http://structure.bmc.lu.se/idbase/CD79Abase/|LRG_42|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_42.xml" CD79A 112205 221180 CD79a HGNC:1698 "ENST00000221972.8|NM_001783.4" HGNC:1698 HGNC:1699 CD79B CD79b molecule protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "B29|Ig-beta|Igbeta" B-cell antigen receptor complex-associated protein beta chain IGB "CD79B antigen (immunoglobulin-associated beta)|CD79b molecule, immunoglobulin-associated beta" "CD molecules|V-set domain containing" "471|590" 1992-08-04 2015-11-19 2023-01-20 974 ENSG00000007312 OTTHUMG00000172294 uc002jdq.2 L27587 NM_000626 "CCDS42372|CCDS11656|CCDS11655" P40259 9545642 MGI:96431 RGD:620012 "CD79Bbase: Mutation registry for Igβ deficiency|http://structure.bmc.lu.se/idbase/CD79Bbase/|LRG_43|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_43.xml" CD79B 147245 236967 objectId:2852 CD79b HGNC:1699 "ENST00000006750.8|NM_000626.4" HGNC:1699 HGNC:1700 CD80 CD80 molecule protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "B7.1|B7-1" B-lymphocyte activation antigen B7 "CD28LG|CD28LG1" "CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)|CD80 molecule " "CD molecules|V-set domain containing|C2-set domain containing|B7 family" "471|590|592|1824" 1993-12-14 2006-03-31 2023-01-20 941 ENSG00000121594 OTTHUMG00000159419 uc003ecq.4 NM_005191 CCDS2989 P33681 1370389 MGI:101775 RGD:2314 112203 objectId:2744 CD80 HGNC:1700 "ENST00000264246.8|NM_005191.4" -HGNC:1701 CD81 CD81 molecule protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "TAPA-1|TSPAN28|S5.7" Tetraspanin-28 TAPA1 CD81 antigen (target of antiproliferative antibody 1) "CD molecules|Tetraspanins" "471|768" 1992-10-21 2006-03-28 2023-01-20 975 ENSG00000110651 OTTHUMG00000009892 uc001lwf.2 NM_004356 "CCDS7734|CCDS73240" P60033 "1650385|24522698" MGI:1096398 RGD:2315 LRG_142|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_142.xml 186845 235199 CD81 HGNC:1701 "ENST00000263645.10|NM_004356.4" HGNC:1701 +HGNC:1701 CD81 CD81 molecule protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "TAPA-1|TSPAN28|S5.7" Tetraspanin-28 TAPA1 CD81 antigen (target of antiproliferative antibody 1) "CD molecules|Tetraspanins" "471|768" 1992-10-21 2006-03-28 2023-01-20 975 ENSG00000110651 OTTHUMG00000009892 uc001lwf.2 NM_004356 "CCDS73240|CCDS7734" P60033 "1650385|24522698" MGI:1096398 RGD:2315 LRG_142|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_142.xml 186845 235199 CD81 HGNC:1701 "ENST00000263645.10|NM_004356.4" HGNC:1701 HGNC:49384 CD81-AS1 CD81 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Antisense RNAs 1987 2013-10-18 2013-10-22 101927682 ENSG00000238184 OTTHUMG00000009760 BC042822 NR_108080 CD81-AS1 HGNC:49384 HGNC:6210 CD82 CD82 molecule protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "R2|IA4|TSPAN27" "suppression of tumorigenicity 6|R2 leukocyte antigen" "ST6|KAI1" "kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))|CD82 antigen" "CD molecules|Tetraspanins" "471|768" 1994-01-10 2005-03-03 2006-03-28 2023-01-20 3732 ENSG00000085117 OTTHUMG00000166472 uc001myc.4 U20770 NM_002231 "CCDS31469|CCDS7909" P27701 MGI:104651 RGD:69070 600623 CD82 HGNC:6210 "ENST00000227155.9|NM_002231.4" HGNC:56287 CD82-AS1 CD82 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Antisense RNAs 1987 2022-08-19 2022-08-19 126568847 ENSG00000254693 NR_182290 35493610 -HGNC:1703 CD83 CD83 molecule protein-coding gene gene with protein product Approved 6p23 06p23 "HB15|BL11" "CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)|CD83 molecule " "CD molecules|V-set domain containing" "471|590" 1999-03-26 2006-03-31 2023-01-20 9308 ENSG00000112149 OTTHUMG00000014283 uc003nbi.4 Z11697 NM_001040280 "CCDS75403|CCDS4532" Q01151 "1378080|8422464" MGI:1328316 RGD:1309677 604534 CD83 HGNC:1703 "ENST00000379153.4|NM_004233.4" +HGNC:1703 CD83 CD83 molecule protein-coding gene gene with protein product Approved 6p23 06p23 "HB15|BL11" "CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)|CD83 molecule " "CD molecules|V-set domain containing" "471|590" 1999-03-26 2006-03-31 2023-01-20 9308 ENSG00000112149 OTTHUMG00000014283 uc003nbi.4 Z11697 NM_001040280 "CCDS4532|CCDS75403" Q01151 "1378080|8422464" MGI:1328316 RGD:1309677 604534 CD83 HGNC:1703 "ENST00000379153.4|NM_004233.4" HGNC:13946 CD83P1 CD83 molecule pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "HB15p|b34I8.3" CD83P "CD83 antigen (activated B lymphocytes, immunoglobulin superfamily) pseudogene|CD83 molecule pseudogene" 2003-11-26 2010-03-02 2010-03-02 2020-04-20 100128240 ENSG00000219738 OTTHUMG00000014480 NG_022297 PGOHUM00000301280 HGNC:13946 -HGNC:1704 CD84 CD84 molecule protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "SLAMF5|hCD84|mCD84" "CD84 antigen (leukocyte antigen)|CD84 molecule " "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1999-01-18 2006-03-31 2023-01-20 8832 ENSG00000066294 OTTHUMG00000022788 uc001fwf.5 AF054816 NM_003874 "CCDS1206|CCDS81388|CCDS53397|CCDS53395|CCDS53396" Q9UIB8 "9310491|29434592" MGI:1336885 RGD:1564553 604513 CD84 HGNC:1704 "ENST00000368054.8|NM_003874.4" +HGNC:1704 CD84 CD84 molecule protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "SLAMF5|hCD84|mCD84" "CD84 antigen (leukocyte antigen)|CD84 molecule " "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1999-01-18 2006-03-31 2023-01-20 8832 ENSG00000066294 OTTHUMG00000022788 uc001fwf.5 AF054816 NM_003874 "CCDS1206|CCDS81388|CCDS53396|CCDS53397|CCDS53395" Q9UIB8 "9310491|29434592" MGI:1336885 RGD:1564553 604513 CD84 HGNC:1704 "ENST00000368054.8|NM_003874.4" HGNC:55159 CD84P1 CD84 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2020-07-17 2020-07-17 118568807 ENSG00000224978 -HGNC:1705 CD86 CD86 molecule protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "B7.2|B7-2" B-lymphocyte antigen B7-2 CD28LG2 CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) "CD molecules|V-set domain containing|B7 family" "471|590|1824" 1994-12-07 2006-03-28 2023-01-20 942 ENSG00000114013 OTTHUMG00000159482 uc003eet.4 NM_006889 "CCDS56272|CCDS74991|CCDS43138|CCDS3009|CCDS56273" P42081 7513726 MGI:101773 RGD:628714 601020 objectId:2745 CD86 HGNC:1705 "ENST00000330540.7|NM_175862.5" +HGNC:1705 CD86 CD86 molecule protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "B7.2|B7-2" B-lymphocyte antigen B7-2 CD28LG2 CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) "CD molecules|V-set domain containing|B7 family" "471|590|1824" 1994-12-07 2006-03-28 2023-01-20 942 ENSG00000114013 OTTHUMG00000159482 uc003eet.4 NM_006889 "CCDS74991|CCDS56273|CCDS43138|CCDS3009|CCDS56272" P42081 7513726 MGI:101773 RGD:628714 601020 objectId:2745 CD86 HGNC:1705 "ENST00000330540.7|NM_175862.5" HGNC:15855 CD93 CD93 molecule protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "C1qRP|C1qR(P)|dJ737E23.1|CDw93|ECSM3" "MXRA4|C1QR1" "matrix-remodelling associated 4|complement component 1, q subcomponent, receptor 1|CD93 antigen" "CD molecules|C-type lectin domain containing|Complement system regulators and receptors" "471|1298|1639" 2001-12-05 2006-02-22 2006-03-28 2023-01-20 22918 ENSG00000125810 OTTHUMG00000032058 uc002wsv.4 U94333 NM_012072 CCDS13149 Q9NPY3 "9047234|10648005" MGI:106664 RGD:621251 120577 CD93 HGNC:15855 "ENST00000246006.5|NM_012072.4" -HGNC:16892 CD96 CD96 molecule protein-coding gene gene with protein product Approved 3q13.13-q13.2 03q13.13-q13.2 TACTILE "T-cell surface protein tactile|T cell activation, increased late expression" CD96 antigen "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 2003-01-22 2006-03-28 2023-01-20 10225 ENSG00000153283 OTTHUMG00000159275 uc003dxw.4 M88282 NM_001318889 "CCDS93339|CCDS2959|CCDS82817|CCDS2958" P40200 "1313846|17847009" MGI:1934368 RGD:1565249 606037 138499 CD96 HGNC:16892 "ENST00000352690.9|NM_005816.5" HGNC:16892 -HGNC:7082 CD99 CD99 molecule (Xg blood group) protein-coding gene gene with protein product Approved Xp22.32 and Yp11.3 Xp22.32 and Yp11.3 "MIC2|MIC2X|MIC2Y" "antigen identified by monoclonal antibodies 12E7, F21 and O13|CD99 antigen|CD99 molecule" "Blood group antigens|CD molecules|Pseudoautosomal region 1" "454|471|715" 2001-06-22 2003-02-14 2017-03-16 2023-01-20 4267 ENSG00000002586 OTTHUMG00000021073 uc004fpz.4 M16279 NM_001122898 "CCDS75947|CCDS48071|CCDS83452|CCDS14119" P14209 "22356523|29305692" MGI:1913728 RGD:1594332 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CD99|LRG_1023|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1023.xml" "313470|450000" CD99 HGNC:7082 "ENST00000381192.10|NM_002414.5" -HGNC:18237 CD99L2 CD99 molecule like 2 protein-coding gene gene with protein product Approved Xq28 Xq28 CD99B MIC2L1 "MIC2 like 1|CD99 antigen-like 2|CD99 molecule-like 2" 2002-02-28 2003-02-14 2015-11-30 2023-01-20 83692 ENSG00000102181 OTTHUMG00000024247 uc004fem.4 BC030536 NM_031462 "CCDS76044|CCDS55527|CCDS14697|CCDS14698|CCDS35427" Q8TCZ2 MGI:2177151 RGD:620896 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CD99L2 300846 HGNC:18237 "ENST00000370377.8|NM_031462.4" +HGNC:16892 CD96 CD96 molecule protein-coding gene gene with protein product Approved 3q13.13-q13.2 03q13.13-q13.2 TACTILE "T-cell surface protein tactile|T cell activation, increased late expression" CD96 antigen "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 2003-01-22 2006-03-28 2023-01-20 10225 ENSG00000153283 OTTHUMG00000159275 uc003dxw.4 M88282 NM_001318889 "CCDS82817|CCDS2958|CCDS2959|CCDS93339" P40200 "1313846|17847009" MGI:1934368 RGD:1565249 606037 138499 CD96 HGNC:16892 "ENST00000352690.9|NM_005816.5" HGNC:16892 +HGNC:7082 CD99 CD99 molecule (Xg blood group) protein-coding gene gene with protein product Approved Xp22.32 and Yp11.3 Xp22.32 and Yp11.3 "MIC2|MIC2X|MIC2Y" "antigen identified by monoclonal antibodies 12E7, F21 and O13|CD99 antigen|CD99 molecule" "Blood group antigens|CD molecules|Pseudoautosomal region 1" "454|471|715" 2001-06-22 2003-02-14 2017-03-16 2023-01-20 4267 ENSG00000002586 OTTHUMG00000021073 uc004fpz.4 M16279 NM_001122898 "CCDS48071|CCDS75947|CCDS14119|CCDS83452" P14209 "22356523|29305692" MGI:1913728 RGD:1594332 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CD99|LRG_1023|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1023.xml" "313470|450000" CD99 HGNC:7082 "ENST00000381192.10|NM_002414.5" +HGNC:18237 CD99L2 CD99 molecule like 2 protein-coding gene gene with protein product Approved Xq28 Xq28 CD99B MIC2L1 "MIC2 like 1|CD99 antigen-like 2|CD99 molecule-like 2" 2002-02-28 2003-02-14 2015-11-30 2023-01-20 83692 ENSG00000102181 OTTHUMG00000024247 uc004fem.4 BC030536 NM_031462 "CCDS14697|CCDS76044|CCDS35427|CCDS55527|CCDS14698" Q8TCZ2 MGI:2177151 RGD:620896 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CD99L2 300846 HGNC:18237 "ENST00000370377.8|NM_031462.4" HGNC:7083 CD99P1 CD99 molecule pseudogene 1 pseudogene pseudogene Approved Xp22.33 and Yp11.31 Xp22.33 and Yp11.31 "MIC2R|NCRNA00103|CXYorf12|CD99L1" "MIC2-related|CD99 antigen-like 1|CD99 molecule-like 1|non-protein coding RNA 103|chromosome X and Y open reading frame 12|CD99 molecule-like 1, pseudogene" Pseudoautosomal region 1 715 1995-04-26 2010-10-11 2010-10-11 2020-04-20 401577 ENSG00000223773 OTTHUMG00000021071 NR_033380 "7833914|26269497" HGNC:7083 HGNC:5949 CD101 CD101 molecule protein-coding gene gene with protein product Approved 1p13.1 01p13.1 V7 IGSF2 immunoglobulin superfamily, member 2 "CD molecules|V-set domain containing|I-set domain containing" "471|590|593" 1998-12-03 2009-10-27 2009-10-27 2023-01-20 9398 ENSG00000134256 OTTHUMG00000012029 uc010oxc.3 Z33642 NM_004258 CCDS891 Q93033 7722300 MGI:2685862 RGD:1311453 604516 CD101 HGNC:5949 "ENST00000682167.1|NM_001256106.3" HGNC:55665 CD101-AS1 CD101 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.1 01p13.1 Antisense RNAs 1987 2021-06-30 2021-06-30 101929099 ENSG00000236137 NR_110786 @@ -3941,36 +3941,36 @@ HGNC:21685 CD109 CD109 molecule protein-coding gene gene with protein product Ap HGNC:55765 CD109-AS1 CD109 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 Antisense RNAs 1987 2021-07-22 2021-07-22 101928489 ENSG00000231652 NR_110889 HGNC:1630 CD151 CD151 molecule (Raph blood group) protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "SFA-1|PETA-3|TSPAN24|RAPH" "CD151 antigen|CD151 antigen (Raph blood group)" "Blood group antigens|CD molecules|Tetraspanins" "454|471|768" 1997-04-10 2006-03-28 2023-01-20 977 ENSG00000177697 OTTHUMG00000133311 uc001lrz.4 "AL161965|BC013302|D29963" NM_004357 CCDS7719 P48509 9070943 MGI:1096360 RGD:621290 LRG_817|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_817.xml 602243 304247 CD151 HGNC:1630 "ENST00000397420.9|NM_004357.5" HGNC:1630 HGNC:17013 CD160 CD160 molecule protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "BY55|NK1|NK28" CD160 antigen "CD molecules|Immunoglobulin like domain containing" "471|594" 2003-10-02 2006-03-28 2023-01-20 11126 ENSG00000117281 OTTHUMG00000013749 uc001eol.3 AF060981 NM_007053 CCDS72861 O95971 "9743336|9973372" MGI:1860383 RGD:1563598 604463 CD160 HGNC:17013 "ENST00000369288.7|NM_007053.4" -HGNC:1631 CD163 CD163 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "M130|MM130|SCARI1" CD163 antigen "CD molecules|Scavenger receptors|Scavenger receptor cysteine rich domain containing" "471|1253|1404" 2000-01-18 2006-03-28 2023-01-20 9332 ENSG00000177575 OTTHUMG00000168353 uc001qsz.4 Z22968 "NM_004244|NM_203416" "CCDS53742|CCDS8578" Q86VB7 "10403791|8370408" MGI:2135946 RGD:1310382 605545 CD163 HGNC:1631 "ENST00000432237.3|NM_203416.4" -HGNC:30375 CD163L1 CD163 molecule like 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "M160|CD163B|SCARI2|WC1" "CD163 antigen-like 1|CD163 molecule-like 1" "Scavenger receptors|Scavenger receptor cysteine rich domain containing" "1253|1404" 2005-12-15 2015-11-30 2023-01-20 283316 ENSG00000177675 OTTHUMG00000168325 uc001qsy.4 AF264014 NM_174941 "CCDS8577|CCDS73434" Q9NR16 "11124526|11086079" 606079 HGNC:30375 "ENST00000313599.8|NM_174941.6" HGNC:30375 -HGNC:1632 CD164 CD164 molecule protein-coding gene gene with protein product Approved 6q21 06q21 "MUC-24|MGC-24|DFNA66|MGC-24v" "deafness, autosomal dominant 66|Sialomucin core protein 24|Endolyn|multi-glycosylated core protein 24" "CD164 antigen, sialomucin|CD164 molecule, sialomucin" CD molecules 471 2000-06-08 2016-01-06 2023-01-20 8763 ENSG00000135535 OTTHUMG00000015339 uc003ptd.4 AF106518 NM_006016 "CCDS87430|CCDS5073|CCDS47462|CCDS47464|CCDS47463|CCDS47465" Q04900 "9680353|9763543|26197441" MGI:1859568 RGD:70942 LRG_1419|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1419.xml 603356 459308 CD164 HGNC:1632 "ENST00000310786.10|NM_006016.6" HGNC:1632 -HGNC:32043 CD164L2 CD164 molecule like 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CD164 sialomucin-like 2 2005-07-08 2016-01-06 2023-01-20 388611 ENSG00000174950 OTTHUMG00000003395 uc031tuv.2 AY358761 NM_207397 "CCDS302|CCDS81287" Q6UWJ8 MGI:1916905 RGD:2323068 HGNC:32043 "ENST00000374030.3|NM_001330448.1" +HGNC:1631 CD163 CD163 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "M130|MM130|SCARI1" CD163 antigen "CD molecules|Scavenger receptors|Scavenger receptor cysteine rich domain containing" "471|1253|1404" 2000-01-18 2006-03-28 2023-01-20 9332 ENSG00000177575 OTTHUMG00000168353 uc001qsz.4 Z22968 "NM_004244|NM_203416" "CCDS8578|CCDS53742" Q86VB7 "10403791|8370408" MGI:2135946 RGD:1310382 605545 CD163 HGNC:1631 "ENST00000432237.3|NM_203416.4" +HGNC:30375 CD163L1 CD163 molecule like 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "M160|CD163B|SCARI2|WC1" "CD163 antigen-like 1|CD163 molecule-like 1" "Scavenger receptors|Scavenger receptor cysteine rich domain containing" "1253|1404" 2005-12-15 2015-11-30 2023-01-20 283316 ENSG00000177675 OTTHUMG00000168325 uc001qsy.4 AF264014 NM_174941 "CCDS73434|CCDS8577" Q9NR16 "11124526|11086079" 606079 HGNC:30375 "ENST00000313599.8|NM_174941.6" HGNC:30375 +HGNC:1632 CD164 CD164 molecule protein-coding gene gene with protein product Approved 6q21 06q21 "MUC-24|MGC-24|DFNA66|MGC-24v" "deafness, autosomal dominant 66|Sialomucin core protein 24|Endolyn|multi-glycosylated core protein 24" "CD164 antigen, sialomucin|CD164 molecule, sialomucin" CD molecules 471 2000-06-08 2016-01-06 2023-01-20 8763 ENSG00000135535 OTTHUMG00000015339 uc003ptd.4 AF106518 NM_006016 "CCDS47464|CCDS5073|CCDS47465|CCDS47462|CCDS87430|CCDS47463" Q04900 "9680353|9763543|26197441" MGI:1859568 RGD:70942 LRG_1419|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1419.xml 603356 459308 CD164 HGNC:1632 "ENST00000310786.10|NM_006016.6" HGNC:1632 +HGNC:32043 CD164L2 CD164 molecule like 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CD164 sialomucin-like 2 2005-07-08 2016-01-06 2023-01-20 388611 ENSG00000174950 OTTHUMG00000003395 uc031tuv.2 AY358761 NM_207397 "CCDS81287|CCDS302" Q6UWJ8 MGI:1916905 RGD:2323068 HGNC:32043 "ENST00000374030.3|NM_001330448.1" HGNC:30072 CD177 CD177 molecule protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "PRV1|HNA2A|NB1" polycythemia rubra vera 1 CD177 antigen "CD molecules|LY6/PLAUR domain containing" "471|1226" 2005-08-12 2006-03-28 2023-01-20 57126 ENSG00000204936 OTTHUMG00000185320 uc032hyu.2 AF146747 NM_020406 CCDS62700 Q8N6Q3 "10753836|5552408" MGI:1916141 RGD:1562941 162860 CD177 HGNC:30072 "ENST00000618265.5|NM_020406.4" HGNC:34508 CD177P1 CD177 molecule pseudogene 1 pseudogene pseudogene Approved 19q13.31 19q13.31 CD177P CD177 molecule pseudogene 2008-08-06 2010-03-02 2010-03-02 2016-03-24 653579 ENSG00000204933 OTTHUMG00000185322 NG_005616 PGOHUM00000267724 HGNC:34508 HGNC:6726 CD180 CD180 molecule protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "RP105|Ly78" LY64 "lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD|CD180 antigen" CD molecules 471 1996-05-07 2005-06-07 2006-03-28 2023-01-20 4064 ENSG00000134061 OTTHUMG00000131229 uc003juy.3 D83597 NM_005582 CCDS3992 Q99467 "9763566|8975706" MGI:1194924 RGD:1308170 602226 CD180 HGNC:6726 "ENST00000256447.5|NM_005582.3" -HGNC:7203 CD200 CD200 molecule protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "MRC|OX-2" "MOX1|MOX2" "antigen identified by monoclonal antibody MRC OX-2|CD200 antigen" "CD molecules|Immunoglobulin like domain containing" "471|594" 2001-06-22 2004-09-01 2006-03-28 2023-01-20 4345 ENSG00000091972 OTTHUMG00000159248 uc003dyx.4 NM_001004196 "CCDS33818|CCDS82819|CCDS2965" P41217 MGI:1196990 RGD:3104 155970 CD200 HGNC:7203 "ENST00000315711.12|NM_005944.7" +HGNC:7203 CD200 CD200 molecule protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "MRC|OX-2" "MOX1|MOX2" "antigen identified by monoclonal antibody MRC OX-2|CD200 antigen" "CD molecules|Immunoglobulin like domain containing" "471|594" 2001-06-22 2004-09-01 2006-03-28 2023-01-20 4345 ENSG00000091972 OTTHUMG00000159248 uc003dyx.4 NM_001004196 "CCDS2965|CCDS33818|CCDS82819" P41217 MGI:1196990 RGD:3104 155970 CD200 HGNC:7203 "ENST00000315711.12|NM_005944.7" HGNC:55196 CD200LP CD200 like, pseudogene pseudogene pseudogene Approved 3q13.2 03q13.2 2022-06-14 2022-06-14 125775242 ENSG00000283669 "MGI:2685455|MGI:5009947" -HGNC:24235 CD200R1 CD200 receptor 1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "OX2R|HCRTR2|CD200R" MOX2R MOX2 receptor C2-set domain containing 592 2004-07-12 2004-09-01 2004-08-31 2023-01-20 131450 ENSG00000163606 OTTHUMG00000159298 uc003dzj.2 AK126349 NM_138806 "CCDS54623|CCDS2969|CCDS46889|CCDS2970" Q8TD46 "10981966|11133863" "MGI:1889024|MGI:3042847|MGI:1921853|MGI:3036289" RGD:61837 607546 HGNC:24235 "ENST00000308611.8|NM_138806.4" +HGNC:24235 CD200R1 CD200 receptor 1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "OX2R|HCRTR2|CD200R" MOX2R MOX2 receptor C2-set domain containing 592 2004-07-12 2004-09-01 2004-08-31 2023-01-20 131450 ENSG00000163606 OTTHUMG00000159298 uc003dzj.2 AK126349 NM_138806 "CCDS2970|CCDS54623|CCDS2969|CCDS46889" Q8TD46 "10981966|11133863" "MGI:1889024|MGI:3042847|MGI:1921853|MGI:3036289" RGD:61837 607546 HGNC:24235 "ENST00000308611.8|NM_138806.4" HGNC:24665 CD200R1L CD200 receptor 1 like protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "CD200RLa|CD200R2" CD200 receptor 2 CD200 receptor 1-like C2-set domain containing 592 2008-10-08 2015-11-11 2023-01-20 344807 ENSG00000206531 OTTHUMG00000159283 uc003dzi.1 AY284976 NM_001008784 "CCDS43131|CCDS56267" Q6Q8B3 "MGI:1889024|MGI:3042847|MGI:1921853|MGI:3036289" RGD:1563387 HGNC:24665 "ENST00000488794.6|NM_001199215.3" HGNC:54071 CD200R1L-AS1 CD200R1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 Antisense RNAs 1987 2018-09-27 2018-09-27 100129297 ENSG00000242770 NR_149026 HGNC:54071 HGNC:56477 CD200R1P1 CD200R1 pseudogene 1 pseudogene pseudogene Approved 3q13.2 03q13.2 2022-10-20 2022-10-20 127379738 ENSG00000289742 NG_115722 HGNC:17935 CD207 CD207 molecule protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "Langerin|CLEC4K" "C-type lectin domain family 4 member K|Langerhans cell specific c-type lectin" "CD207 antigen, langerin|CD207 molecule, langerin" "CD molecules|Scavenger receptors|C-type lectin domain containing" "471|1253|1298" 2003-10-02 2016-01-06 2023-05-31 50489 ENSG00000116031 OTTHUMG00000153176 uc002shg.4 AJ242859 NM_015717 CCDS74520 Q9UJ71 "10661407|9847074" MGI:2180021 RGD:1565913 604862 CD207 HGNC:17935 "ENST00000410009.5|NM_015717.5" HGNC:17935 -HGNC:1641 CD209 CD209 molecule protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "DC-SIGN|hDC-SIGN|CDSIGN|DC-SIGN1|CLEC4L" CD209 antigen "CD molecules|Scavenger receptors|C-type lectin domain containing" "471|1253|1298" 2000-07-19 2006-03-28 2023-01-20 30835 ENSG00000090659 OTTHUMG00000182530 uc002mht.3 M98457 NM_021155 "CCDS12186|CCDS45951|CCDS45952|CCDS59345|CCDS45949|CCDS45950|CCDS59344" Q9NNX6 1518869 "MGI:1916415|MGI:2157942|MGI:2157945|MGI:2157947|MGI:2157948" RGD:1561104 604672 objectId:2930 CD209 HGNC:1641 "ENST00000315599.12|NM_021155.4" -HGNC:16961 CD226 CD226 molecule protein-coding gene gene with protein product Approved 18q22.2 18q22.2 "DNAM-1|DNAM1|PTA1|TLiSA1" CD226 antigen "CD molecules|V-set domain containing" "471|590" 2003-10-02 2006-03-28 2023-01-20 10666 ENSG00000150637 OTTHUMG00000132809 uc002lkm.6 U56102 NM_006566 "CCDS11997|CCDS77197" Q15762 8673704 MGI:3039602 RGD:1311513 605397 CD226 HGNC:16961 "ENST00000582621.6|NM_001303618.2" +HGNC:1641 CD209 CD209 molecule protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "DC-SIGN|hDC-SIGN|CDSIGN|DC-SIGN1|CLEC4L" CD209 antigen "CD molecules|Scavenger receptors|C-type lectin domain containing" "471|1253|1298" 2000-07-19 2006-03-28 2023-01-20 30835 ENSG00000090659 OTTHUMG00000182530 uc002mht.3 M98457 NM_021155 "CCDS12186|CCDS45952|CCDS45949|CCDS59344|CCDS45950|CCDS59345|CCDS45951" Q9NNX6 1518869 "MGI:1916415|MGI:2157942|MGI:2157945|MGI:2157947|MGI:2157948" RGD:1561104 604672 objectId:2930 CD209 HGNC:1641 "ENST00000315599.12|NM_021155.4" +HGNC:16961 CD226 CD226 molecule protein-coding gene gene with protein product Approved 18q22.2 18q22.2 "DNAM-1|DNAM1|PTA1|TLiSA1" CD226 antigen "CD molecules|V-set domain containing" "471|590" 2003-10-02 2006-03-28 2023-01-20 10666 ENSG00000150637 OTTHUMG00000132809 uc002lkm.6 U56102 NM_006566 "CCDS77197|CCDS11997" Q15762 8673704 MGI:3039602 RGD:1311513 605397 CD226 HGNC:16961 "ENST00000582621.6|NM_001303618.2" HGNC:18171 CD244 CD244 molecule protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "2B4|NAIL|NKR2B4|Nmrk|SLAMF4" "natural killer cell receptor 2B4|CD244 natural killer cell receptor 2B4|CD244 molecule, natural killer cell receptor 2B4" "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 2003-10-23 2016-01-06 2023-01-20 51744 ENSG00000122223 OTTHUMG00000028606 uc001fxa.4 AF105261 NM_016382 "CCDS1210|CCDS53399|CCDS53398" Q9BZW8 "3772297|10458320" MGI:109294 RGD:68400 605554 470050 CD244 HGNC:18171 "ENST00000368034.9|NM_016382.4" HGNC:1677 CD247 CD247 molecule protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "CD3H|CD3Q|TCRZ|CD3-ZETA|CD3ZETA" T-cell surface glycoprotein CD3 zeta chain CD3Z "CD3z antigen, zeta polypeptide (TiT3 complex)|CD247 antigen" CD molecules 471 1989-04-06 2006-03-09 2006-03-28 2023-01-20 919 ENSG00000198821 OTTHUMG00000034593 uc001gei.5 BC025703 NM_198053 "CCDS1260|CCDS1261" P20963 "2974162|35388926" MGI:88334 RGD:2305 "CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency|http://structure.bmc.lu.se/idbase/CD247base/|LRG_36|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_36.xml" 186780 226144 objectId:3142 CD247 HGNC:1677 "ENST00000362089.10|NM_198053.3" HGNC:1677 HGNC:18219 CD248 CD248 molecule protein-coding gene gene with protein product Approved 11q13.2 11q13.2 TEM1 "endosialin|tumor endothelial marker 1" CD164L1 "CD164 sialomucin-like 1|CD248 antigen, endosialin|CD248 molecule, endosialin" "CD molecules|C-type lectin domain containing" "471|1298" 2003-08-27 2005-02-11 2016-01-06 2023-01-20 57124 ENSG00000174807 OTTHUMG00000167073 uc001ohm.1 AF279142 NM_020404 CCDS8134 Q9HCU0 "10947988|11084048" MGI:1917695 RGD:1310404 606064 CD248 HGNC:18219 "ENST00000311330.4|NM_020404.3" HGNC:17635 CD274 CD274 molecule protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "B7-H|B7H1|PD-L1|PDL1|B7-H1" B7 homolog 1 PDCD1LG1 "programmed cell death 1 ligand 1|CD274 antigen" "CD molecules|Receptor ligands|V-set domain containing|C2-set domain containing|B7 family" "471|542|590|592|1824" 2003-11-13 2005-02-25 2006-03-28 2023-01-20 29126 ENSG00000120217 OTTHUMG00000019503 uc003zje.4 AF177937 NM_014143 "CCDS6464|CCDS59118" Q9NZQ7 "11015443|10581077" MGI:1926446 RGD:1566211 CD274 605402 ligandId:9606 CD274 HGNC:17635 "ENST00000381577.4|NM_014143.4" HGNC:17635 -HGNC:19137 CD276 CD276 molecule protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "B7-H3|B7H3|B7RP-2" CD276 antigen "CD molecules|V-set domain containing|C2-set domain containing|B7 family" "471|590|592|1824" 2005-03-04 2006-03-28 2023-01-20 80381 ENSG00000103855 OTTHUMG00000137585 uc002avv.2 AF302102 NM_025240 "CCDS86475|CCDS32288|CCDS10251" Q5ZPR3 "11224528|12055244" MGI:2183926 RGD:727815 605715 objectId:2938 CD276 HGNC:19137 "ENST00000318443.10|NM_001024736.2" -HGNC:19319 CD300A CD300a molecule protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "Irp60|CMRF35H|CMRF-35-H9|IRC1|IRC2|IGSF12" CD300a antigen "CD molecules|V-set domain containing" "471|590" 2005-02-08 2006-03-28 2023-01-20 11314 ENSG00000167851 OTTHUMG00000067612 uc002jkv.5 BC032352 NM_007261 "CCDS58590|CCDS82196|CCDS32720|CCDS82197" Q9UGN4 "9701027|10746781" MGI:2443411 RGD:1583719 606790 objectId:2918 CD300a HGNC:19319 "ENST00000360141.8|NM_007261.4" +HGNC:19137 CD276 CD276 molecule protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "B7-H3|B7H3|B7RP-2" CD276 antigen "CD molecules|V-set domain containing|C2-set domain containing|B7 family" "471|590|592|1824" 2005-03-04 2006-03-28 2023-01-20 80381 ENSG00000103855 OTTHUMG00000137585 uc002avv.2 AF302102 NM_025240 "CCDS86475|CCDS10251|CCDS32288" Q5ZPR3 "11224528|12055244" MGI:2183926 RGD:727815 605715 objectId:2938 CD276 HGNC:19137 "ENST00000318443.10|NM_001024736.2" +HGNC:19319 CD300A CD300a molecule protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "Irp60|CMRF35H|CMRF-35-H9|IRC1|IRC2|IGSF12" CD300a antigen "CD molecules|V-set domain containing" "471|590" 2005-02-08 2006-03-28 2023-01-20 11314 ENSG00000167851 OTTHUMG00000067612 uc002jkv.5 BC032352 NM_007261 "CCDS32720|CCDS58590|CCDS82197|CCDS82196" Q9UGN4 "9701027|10746781" MGI:2443411 RGD:1583719 606790 objectId:2918 CD300a HGNC:19319 "ENST00000360141.8|NM_007261.4" HGNC:19320 CD300C CD300c molecule protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "CMRF35|LIR|CMRF-35A|CMRF35A|IGSF16" CD300c antigen "CD molecules|V-set domain containing" "471|590" 2005-02-08 2006-03-28 2023-01-20 10871 ENSG00000167850 OTTHUMG00000067608 uc002jky.3 BC022279 NM_006678 CCDS11701 Q08708 "1349532|10746781" "MGI:2153249|MGI:3032626" RGD:1565161 606786 CD300c HGNC:19320 "ENST00000330793.2|NM_006678.5" HGNC:28874 CD300E CD300e molecule protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "IREM2|CLM2" CD300LE "CD300 antigen like family member E|CD300e antigen" "CD molecules|V-set domain containing" "471|590" 2005-05-17 2006-02-22 2006-03-28 2023-01-20 342510 ENSG00000186407 OTTHUMG00000067605 uc002jlb.3 BX648376 NM_181449 CCDS11702 Q496F6 "15549731|15557162" MGI:2387602 RGD:1585137 609801 CD300e HGNC:28874 "ENST00000392619.2|NM_181449.3" -HGNC:52292 CD300H CD300H molecule (gene/pseudogene) protein-coding gene gene with protein product Approved 17q25.1 17q25.1 2018-04-30 2023-01-20 100130520 ENSG00000284690 OTTHUMG00000067607 NM_001324073 "CCDS86635|CCDS86636" A0A0K2S4Q6 26221034 616560 HGNC:52292 +HGNC:52292 CD300H CD300H molecule (gene/pseudogene) protein-coding gene gene with protein product Approved 17q25.1 17q25.1 2018-04-30 2023-01-20 100130520 ENSG00000284690 OTTHUMG00000067607 NM_001324073 "CCDS86636|CCDS86635" A0A0K2S4Q6 26221034 616560 HGNC:52292 HGNC:30811 CD300LB CD300 molecule like family member b protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "TREM5|CLM7" triggering receptor expressed on myeloid cells 5 "CD300 antigen like family member B|CD300 molecule-like family member b" V-set domain containing 590 2005-05-17 2015-11-30 2023-01-20 124599 ENSG00000178789 OTTHUMG00000067606 uc002jkx.4 AF427618 NM_174892 CCDS11700 A8K4G0 12975309 MGI:2685099 RGD:1583718 610705 HGNC:30811 "ENST00000392621.6|NM_174892.4" HGNC:16848 CD300LD CD300 molecule like family member d protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "CMRF35A4|CD300D" CD300 molecule-like family member d V-set domain containing 590 2008-02-19 2015-11-30 2023-01-20 100131439 ENSG00000204345 OTTHUMG00000067614 uc002jkz.3 NM_001115152 CCDS42379 Q6UXZ3 22291008 "MGI:2442358|MGI:2687214|MGI:3702658|MGI:3702661" RGD:2319739 616301 HGNC:16848 "ENST00000375352.1|NM_001115152.2" HGNC:26480 CD300LD-AS1 CD300LD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 FLJ31882 C17orf77 "chromosome 17 open reading frame 77|chromosome 17 putative open reading frame 77" Antisense RNAs 1987 2006-01-16 2021-03-05 2021-03-05 2023-03-15 146723 ENSG00000182352 OTTHUMG00000067611 uc002jla.2 NR_171003 Q96MU5 HGNC:26480 -HGNC:29883 CD300LF CD300 molecule like family member f protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "IREM1|NKIR|IGSF13|CD300f|CLM1" "CD300 antigen like family member F|CD300 molecule-like family member f" V-set domain containing 590 2005-05-17 2015-11-30 2023-01-20 146722 ENSG00000186074 OTTHUMG00000067609 uc002jlg.5 BC028199 NM_139018 "CCDS74150|CCDS74151|CCDS11704|CCDS74152|CCDS74148|CCDS74149" Q8TDQ1 12975309 MGI:2442359 RGD:1309733 609807 HGNC:29883 "ENST00000326165.11|NM_139018.5" -HGNC:30455 CD300LG CD300 molecule like family member g protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "Trem4|CLM9" nepmucin "CD300 antigen like family member G|CD300 molecule-like family member g" V-set domain containing 590 2005-05-17 2015-11-30 2023-01-20 146894 ENSG00000161649 OTTHUMG00000181796 uc002iem.4 BC025395 NM_145273 "CCDS54132|CCDS54131|CCDS54133|CCDS11470|CCDS92332" Q6UXG3 "16876123|16754720" MGI:1289168 RGD:1584376 610520 HGNC:30455 "ENST00000317310.5|NM_145273.4" +HGNC:29883 CD300LF CD300 molecule like family member f protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "IREM1|NKIR|IGSF13|CD300f|CLM1" "CD300 antigen like family member F|CD300 molecule-like family member f" V-set domain containing 590 2005-05-17 2015-11-30 2023-01-20 146722 ENSG00000186074 OTTHUMG00000067609 uc002jlg.5 BC028199 NM_139018 "CCDS74151|CCDS74152|CCDS74150|CCDS11704|CCDS74149|CCDS74148" Q8TDQ1 12975309 MGI:2442359 RGD:1309733 609807 HGNC:29883 "ENST00000326165.11|NM_139018.5" +HGNC:30455 CD300LG CD300 molecule like family member g protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "Trem4|CLM9" nepmucin "CD300 antigen like family member G|CD300 molecule-like family member g" V-set domain containing 590 2005-05-17 2015-11-30 2023-01-20 146894 ENSG00000161649 OTTHUMG00000181796 uc002iem.4 BC025395 NM_145273 "CCDS54133|CCDS92332|CCDS54131|CCDS54132|CCDS11470" Q6UXG3 "16876123|16754720" MGI:1289168 RGD:1584376 610520 HGNC:30455 "ENST00000317310.5|NM_145273.4" HGNC:30843 CD302 CD302 molecule protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "DCL-1|KIAA0022|BIMLEC|CLEC13A" C-type lectin domain family 13, member A CD302 antigen "CD molecules|C-type lectin domain containing" "471|1298" 2005-02-11 2006-03-28 2023-01-20 9936 ENSG00000241399 OTTHUMG00000154080 uc002uba.4 AY314007 NM_014880 "CCDS33308|CCDS74595|CCDS56139" Q8IX05 "7584026|7584028" MGI:1913455 RGD:1307606 612246 CD302 HGNC:30843 "ENST00000259053.6|NM_014880.5" HGNC:16692 CD320 CD320 molecule protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "8D6|8D6A|TCblR|TCN2R|sCD320|TCII-R" "8D6 antigen|Transcobalamin receptor|soluble CD320|transcobalamin 2 receptor" CD320 antigen CD molecules 471 2005-02-09 2006-03-28 2023-01-20 51293 ENSG00000167775 OTTHUMG00000182457 uc002mjj.3 AF161254 NM_016579 "CCDS54210|CCDS12198" Q9NPF0 "10727470|20524213" MGI:1860083 RGD:1305860 606475 280190 CD320 HGNC:16692 "ENST00000301458.10|NM_016579.4" HGNC:16692 HGNC:1712 CDA cytidine deaminase protein-coding gene gene with protein product Approved 1p36.12 01p36.12 CDD 1993-06-17 2023-01-20 978 ENSG00000158825 OTTHUMG00000002845 uc001bdk.4 BC054036 NM_001785 CCDS210 P32320 "8422236|9878810" MGI:1919519 RGD:1311101 123920 objectId:3133 3.5.4.5 HGNC:1712 "ENST00000375071.4|NM_001785.3" @@ -3979,21 +3979,21 @@ HGNC:1713 CDAN1 codanin 1 protein-coding gene gene with protein product Approved HGNC:1743 CDC5L cell division cycle 5 like protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "PCDC5RP|hCDC5|CEF1|CDC5" "CDC5 (cell division cycle 5, S. pombe, homolog)-like|CDC5 cell division cycle 5-like (S. pombe)|cell division cycle 5-like" "Myb/SANT domain containing|NineTeen complex|Spliceosomal C complex|MicroRNA protein coding host genes" "532|1361|1510|1691" 1997-08-28 2015-11-18 2023-01-20 988 ENSG00000096401 OTTHUMG00000014767 uc003oxl.4 D85423 NM_001253 CCDS4912 Q99459 "9598309|9038199" MGI:1918952 RGD:70892 602868 HGNC:1743 "ENST00000371477.4|NM_001253.4" HGNC:1744 CDC6 cell division cycle 6 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 CDC18L "CDC6 (cell division cycle 6, S. cerevisiae) homolog|CDC6 cell division cycle 6 homolog (S. cerevisiae)|cell division cycle 6 homolog (S. cerevisiae)" 1999-08-06 2013-01-17 2023-01-20 990 ENSG00000094804 OTTHUMG00000133324 uc002huj.2 U77949 NM_001254 CCDS11365 Q99741 "8990175|9566895" MGI:1345150 RGD:1309157 LRG_1257|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1257.xml 602627 260345 HGNC:1744 "ENST00000209728.9|NM_001254.4" HGNC:1744 HGNC:1745 CDC7 cell division cycle 7 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "Hsk1|huCdc7|HsCdc7" CDC7L1 "CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1|CDC7 cell division cycle 7 (S. cerevisiae)|cell division cycle 7 (S. cerevisiae)|cell division cycle 7 homolog (S. cerevisiae)" 1998-09-01 2003-07-23 2013-01-17 2023-01-20 8317 ENSG00000097046 OTTHUMG00000047810 uc001doe.4 AF015592 NM_003503 CCDS734 O00311 "9405610|9250678" MGI:1309511 RGD:1308351 603311 objectId:1960 HGNC:1745 "ENST00000234626.11|NM_003503.4" -HGNC:1718 CDC14A cell division cycle 14A protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "Cdc14A1|Cdc14A2|cdc14|DFNB105" DFNB32 "CDC10 (cell division cycle 10, S. cerevisiae, homolog)|CDC14 cell division cycle 14 homolog A (S. cerevisiae)|deafness, autosomal recessive 32" CDC14 phosphatases 900 1998-12-18 2013-01-17 2023-01-20 8556 ENSG00000079335 OTTHUMG00000010987 uc001dtf.3 AF000367 NM_033312 "CCDS769|CCDS771|CCDS86000|CCDS81353|CCDS770" Q9UNH5 "9367992|10409437|27259055|29293958" MGI:2442676 RGD:1304649 LRG_1418|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1418.xml 603504 459321 HGNC:1718 "ENST00000336454.5|NM_003672.4" HGNC:1718 -HGNC:1719 CDC14B cell division cycle 14B protein-coding gene gene with protein product Approved 9q22.32-q22.33 09q22.32-q22.33 "Cdc14B1|Cdc14B2|CDC14B3|hCDC14B" "CDC14 (cell division cycle 14, S. cerevisiae) homolog B|CDC14 cell division cycle 14 homolog B (S. cerevisiae)" CDC14 phosphatases 900 1998-12-18 2013-01-17 2023-03-15 8555 ENSG00000081377 OTTHUMG00000020300 uc004awj.3 AF023158 NM_033331 "CCDS6722|CCDS6721|CCDS43853|CCDS87662" O60729 9367992 MGI:2441808 RGD:1311163 603505 HGNC:1719 "ENST00000375241.6|NM_033331.4" +HGNC:1718 CDC14A cell division cycle 14A protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "Cdc14A1|Cdc14A2|cdc14|DFNB105" DFNB32 "CDC10 (cell division cycle 10, S. cerevisiae, homolog)|CDC14 cell division cycle 14 homolog A (S. cerevisiae)|deafness, autosomal recessive 32" CDC14 phosphatases 900 1998-12-18 2013-01-17 2023-01-20 8556 ENSG00000079335 OTTHUMG00000010987 uc001dtf.3 AF000367 NM_033312 "CCDS769|CCDS770|CCDS86000|CCDS771|CCDS81353" Q9UNH5 "9367992|10409437|27259055|29293958" MGI:2442676 RGD:1304649 LRG_1418|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1418.xml 603504 459321 HGNC:1718 "ENST00000336454.5|NM_003672.4" HGNC:1718 +HGNC:1719 CDC14B cell division cycle 14B protein-coding gene gene with protein product Approved 9q22.32-q22.33 09q22.32-q22.33 "Cdc14B1|Cdc14B2|CDC14B3|hCDC14B" "CDC14 (cell division cycle 14, S. cerevisiae) homolog B|CDC14 cell division cycle 14 homolog B (S. cerevisiae)" CDC14 phosphatases 900 1998-12-18 2013-01-17 2023-03-15 8555 ENSG00000081377 OTTHUMG00000020300 uc004awj.3 AF023158 NM_033331 "CCDS6721|CCDS6722|CCDS87662|CCDS43853" O60729 9367992 MGI:2441808 RGD:1311163 603505 HGNC:1719 "ENST00000375241.6|NM_033331.4" HGNC:22427 CDC14C cell division cycle 14C protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "MGC26484|CDC14B2|CDC14Bretro|CDC14CP" 2005-03-09 2017-11-22 2023-01-20 168448 ENSG00000218305 OTTHUMG00000155844 BC028690 NM_152627 CCDS94101 A4D256 "16201836|18547142|20720150" MGI:2441808 PGOHUM00000302621 HGNC:22427 "ENST00000650262.2|NM_152627.3" HGNC:1720 CDC16 cell division cycle 16 protein-coding gene gene with protein product Approved 13q34 13q34 "APC6|ANAPC6|CUT9" anaphase-promoting complex, subunit 6 "CDC16 (cell division cycle 16, S. cerevisiae, homolog)|CDC16 cell division cycle 16 homolog (S. cerevisiae)|cell division cycle 16 homolog (S. cerevisiae)" "Anaphase promoting complex |Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes" "402|769|1691" 1999-06-07 2013-01-17 2023-01-20 8881 ENSG00000130177 OTTHUMG00000017402 uc001vuk.1 U18291 NM_003903 "CCDS81786|CCDS81787|CCDS9542" Q13042 7736578 MGI:1917207 RGD:1305076 603461 HGNC:1720 "ENST00000356221.8|NM_001078645.3" HGNC:1723 CDC20 cell division cycle 20 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "p55CDC|CDC20A" fizzy homolog (drosophila) "CDC20 (cell division cycle 20, S. cerevisiae, homolog)|CDC20 cell division cycle 20 homolog (S. cerevisiae)|cell division cycle 20 homolog (S. cerevisiae)" WD repeat domain containing 362 1998-08-20 2013-01-17 2023-01-20 991 ENSG00000117399 OTTHUMG00000007420 uc001cix.4 U05340 NM_001255 CCDS484 Q12834 "7513050|9353311" MGI:1859866 RGD:620477 603618 HGNC:1723 "ENST00000310955.11|NM_001255.3" HGNC:55681 CDC20-DT CDC20 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-07-01 2021-07-01 105378687 ENSG00000234694 NR_183646 -HGNC:24222 CDC20B cell division cycle 20B protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FLJ37927 "CDC20 cell division cycle 20 homolog B (S. cerevisiae)|cell division cycle 20 homolog B (S. cerevisiae)" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2006-07-07 2013-01-17 2023-01-20 166979 ENSG00000164287 OTTHUMG00000131185 uc003jpn.3 AB086378 NM_152623 "CCDS47207|CCDS54852|CCDS3966" Q86Y33 30405130 MGI:3644472 RGD:1584143 620335 HGNC:24222 "ENST00000381375.7|NM_001170402.1" +HGNC:24222 CDC20B cell division cycle 20B protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FLJ37927 "CDC20 cell division cycle 20 homolog B (S. cerevisiae)|cell division cycle 20 homolog B (S. cerevisiae)" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2006-07-07 2013-01-17 2023-01-20 166979 ENSG00000164287 OTTHUMG00000131185 uc003jpn.3 AB086378 NM_152623 "CCDS54852|CCDS3966|CCDS47207" Q86Y33 30405130 MGI:3644472 RGD:1584143 620335 HGNC:24222 "ENST00000381375.7|NM_001170402.1" HGNC:29487 CDC20P1 cell division cycle 20 pseudogene 1 pseudogene pseudogene Approved 9q21.33 09q21.33 OTTHUMG00000020142 CDC20P "CDC20 cell division cycle 20 homolog pseudogene (S. cerevisiae)|cell division cycle 20 homolog (S. cerevisiae) pseudogene|cell division cycle 20 homolog (S. cerevisiae) pseudogene 1" 2005-05-20 2010-03-02 2013-01-17 2014-11-18 157956 ENSG00000231007 OTTHUMG00000020142 NG_001560 9682218 PGOHUM00000236675 HGNC:29487 HGNC:1724 CDC23 cell division cycle 23 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "APC8|ANAPC8|CUT23" anaphase promoting complex subunit 8 "CDC23 (cell division cycle 23, yeast, homolog)|cell division cycle 23 homolog (S. cerevisiae)" "Anaphase promoting complex |Tetratricopeptide repeat domain containing" "402|769" 1998-06-25 2013-01-17 2023-01-20 8697 ENSG00000094880 OTTHUMG00000129198 uc003lcl.3 AF053977 NM_004661 CCDS4200 Q9UJX2 9790767 MGI:1098815 RGD:1304819 603462 HGNC:1724 "ENST00000394886.7|NM_004661.4" HGNC:1725 CDC25A cell division cycle 25A protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CDC25 homolog A (S. pombe)|M-phase inducer phosphatase 1" Class III Cys-based CDC25 phosphatases 713 1992-07-31 2013-01-17 2023-01-20 993 ENSG00000164045 OTTHUMG00000133535 uc003csh.2 M81933 NM_001789 "CCDS2761|CCDS2760" P30304 1836978 MGI:103198 RGD:621498 116947 3.1.3.48 HGNC:1725 "ENST00000302506.8|NM_001789.3" -HGNC:1726 CDC25B cell division cycle 25B protein-coding gene gene with protein product Approved 20p13 20p13 "CDC25 homolog B (S. pombe)|M-phase inducer phosphatase 2" Class III Cys-based CDC25 phosphatases 713 1992-07-31 2013-01-17 2023-03-15 994 ENSG00000101224 OTTHUMG00000031764 uc002wjn.5 NM_021874 "CCDS74701|CCDS13067|CCDS74700|CCDS13065|CCDS13066" P30305 1836978 MGI:99701 RGD:621500 116949 3.1.3.48 HGNC:1726 "ENST00000245960.10|NM_021873.4" -HGNC:1727 CDC25C cell division cycle 25C protein-coding gene gene with protein product Approved 5q31.2 05q31.2 PPP1R60 "protein phosphatase 1, regulatory subunit 60|CDC25 homolog C (S. pombe)|M-phase inducer phosphatase 3" CDC25 "Protein phosphatase 1 regulatory subunits|Class III Cys-based CDC25 phosphatases" "694|713" 1992-02-06 2013-01-17 2023-01-20 995 ENSG00000158402 OTTHUMG00000129203 uc063hkk.1 M34065 NM_001287582 "CCDS4203|CCDS4202" P30307 1703321 MGI:88350 RGD:1311875 157680 3.1.3.48 HGNC:1727 "ENST00000323760.11|NM_001790.5" +HGNC:1726 CDC25B cell division cycle 25B protein-coding gene gene with protein product Approved 20p13 20p13 "CDC25 homolog B (S. pombe)|M-phase inducer phosphatase 2" Class III Cys-based CDC25 phosphatases 713 1992-07-31 2013-01-17 2023-03-15 994 ENSG00000101224 OTTHUMG00000031764 uc002wjn.5 NM_021874 "CCDS74701|CCDS13067|CCDS13065|CCDS13066|CCDS74700" P30305 1836978 MGI:99701 RGD:621500 116949 3.1.3.48 HGNC:1726 "ENST00000245960.10|NM_021873.4" +HGNC:1727 CDC25C cell division cycle 25C protein-coding gene gene with protein product Approved 5q31.2 05q31.2 PPP1R60 "protein phosphatase 1, regulatory subunit 60|CDC25 homolog C (S. pombe)|M-phase inducer phosphatase 3" CDC25 "Protein phosphatase 1 regulatory subunits|Class III Cys-based CDC25 phosphatases" "694|713" 1992-02-06 2013-01-17 2023-01-20 995 ENSG00000158402 OTTHUMG00000129203 uc063hkk.1 M34065 NM_001287582 "CCDS4202|CCDS4203" P30307 1703321 MGI:88350 RGD:1311875 157680 3.1.3.48 HGNC:1727 "ENST00000323760.11|NM_001790.5" HGNC:17839 CDC26 cell division cycle 26 protein-coding gene gene with protein product Approved 9q32 09q32 "APC12|ANAPC12" "CDC26 subunit of anaphase promoting complex|anaphase promoting complex subunit 12" C9orf17 C9orf17 Anaphase promoting complex 402 2002-01-29 2003-11-26 2013-01-17 2023-01-20 246184 ENSG00000176386 OTTHUMG00000020521 uc004bgw.4 AF503918 NM_139286 CCDS6790 Q8NHZ8 "8895471|10922056" MGI:1913690 RGD:1311342 614533 HGNC:17839 "ENST00000374206.4|NM_139286.4" HGNC:22770 CDC26P1 cell division cycle 26 pseudogene 1 pseudogene pseudogene Approved 7q32.1 07q32.1 TCAG_1970866 CDC26P "cell division cycle 26 pseudogene|cell division cycle 26 homolog (S. cerevisiae) pseudogene|cell division cycle 26 homolog (S. cerevisiae) pseudogene 1" 2003-11-24 2010-03-02 2013-01-17 2020-04-20 729948 ENSG00000238072 OTTHUMG00000157697 NG_011774 HGNC:22770 -HGNC:1728 CDC27 cell division cycle 27 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "APC3|ANAPC3|NUC2" anaphase promoting complex subunit 3 "D0S1430E|D17S978E" D0S1430E, D17S978E "Anaphase promoting complex |Tetratricopeptide repeat domain containing" "402|769" 1994-02-23 2013-01-17 2023-01-20 996 ENSG00000004897 OTTHUMG00000166429 uc002ild.5 U00001 NM_001114091 "CCDS11509|CCDS45720|CCDS74090" P30260 8234252 MGI:102685 RGD:1304921 116946 HGNC:1728 "ENST00000066544.8|NM_001256.6" +HGNC:1728 CDC27 cell division cycle 27 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "APC3|ANAPC3|NUC2" anaphase promoting complex subunit 3 "D0S1430E|D17S978E" D0S1430E, D17S978E "Anaphase promoting complex |Tetratricopeptide repeat domain containing" "402|769" 1994-02-23 2013-01-17 2023-01-20 996 ENSG00000004897 OTTHUMG00000166429 uc002ild.5 U00001 NM_001114091 "CCDS74090|CCDS11509|CCDS45720" P30260 8234252 MGI:102685 RGD:1304921 116946 HGNC:1728 "ENST00000066544.8|NM_001256.6" HGNC:38091 CDC27P1 cell division cycle 27 pseudogene 1 pseudogene pseudogene Approved 2q21.2 02q21.2 cell division cycle 27 homolog (S. cerevisiae) pseudogene 1 2010-04-14 2013-01-17 2015-05-18 647696 ENSG00000233786 OTTHUMG00000153604 NG_021586 PGOHUM00000298734 HGNC:38091 HGNC:38092 CDC27P2 cell division cycle 27 pseudogene 2 pseudogene pseudogene Approved Yp11.2 Yp11.2 cell division cycle 27 homolog (S. cerevisiae) pseudogene 2 2010-04-14 2013-01-17 2015-05-18 100130277 ENSG00000237447 OTTHUMG00000036270 NG_021910 PGOHUM00000305464 HGNC:38092 HGNC:51754 CDC27P3 cell division cycle 27 pseudogene 3 pseudogene pseudogene Approved 20q11.1 20q11.1 2015-05-19 2016-07-22 102723416 ENSG00000283005 OTTHUMG00000191536 PGOHUM00000297091 HGNC:51754 @@ -4012,11 +4012,11 @@ HGNC:49735 CDC37L1-DT CDC37L1 divergent transcript non-coding RNA RNA, long non- HGNC:34406 CDC37P1 cell division cycle 37 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 A-761H5.2 cell division cycle 37 homolog (S. cerevisiae) pseudogene 1 2009-01-29 2013-01-17 2023-03-15 390688 ENSG00000259982 OTTHUMG00000175739 NG_009463 15616553 PGOHUM00000293492 HGNC:34406 HGNC:35453 CDC37P2 cell division cycle 37 pseudogene 2 pseudogene pseudogene Approved 16p12.1 16p12.1 cell division cycle 37 homolog (S. cerevisiae) pseudogene 2 2009-01-29 2013-01-17 2016-10-05 647015 ENSG00000261089 OTTHUMG00000175736 NG_009466 11413142 PGOHUM00000293752 HGNC:35453 HGNC:17350 CDC40 cell division cycle 40 protein-coding gene gene with protein product Approved 6q21 06q21 "PRP17|EHB3|PRPF17|FLJ10564" "cell division cycle 40 homolog (yeast)|cell division cycle 40 homolog (S. cerevisiae)" "WD repeat domain containing|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "362|1498|1508|1510|1516" 2003-05-16 2013-01-17 2023-01-20 51362 ENSG00000168438 OTTHUMG00000015358 uc003pua.4 AF015044 NM_015891 CCDS5081 O60508 "9769104|9830021" MGI:1918963 RGD:1307063 605585 HGNC:17350 "ENST00000307731.2|NM_015891.3" -HGNC:1736 CDC42 cell division cycle 42 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "G25K|CDC42Hs" GTP binding protein, 25kDa "cell division cycle 42 (GTP-binding protein, 25kD)|cell division cycle 42 (GTP binding protein, 25kDa)" Rho family GTPases 390 1991-06-06 2013-01-17 2023-01-20 998 ENSG00000070831 OTTHUMG00000002753 uc057ddl.1 BC018266 NM_001791 "CCDS221|CCDS222" P60953 "2124704|2122236" MGI:106211 RGD:71043 LRG_1326|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1326.xml 116952 470056 HGNC:1736 "ENST00000656825.1|NM_001791.4" HGNC:1736 +HGNC:1736 CDC42 cell division cycle 42 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "G25K|CDC42Hs" GTP binding protein, 25kDa "cell division cycle 42 (GTP-binding protein, 25kD)|cell division cycle 42 (GTP binding protein, 25kDa)" Rho family GTPases 390 1991-06-06 2013-01-17 2023-01-20 998 ENSG00000070831 OTTHUMG00000002753 uc057ddl.1 BC018266 NM_001791 "CCDS222|CCDS221" P60953 "2124704|2122236" MGI:106211 RGD:71043 LRG_1326|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1326.xml 116952 470056 HGNC:1736 "ENST00000656825.1|NM_001791.4" HGNC:1736 HGNC:54314 CDC42-AS1 CDC42 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 Antisense RNAs 1987 2019-05-03 2019-05-03 112268223 ENSG00000285752 HGNC:54314 HGNC:41317 CDC42-IT1 CDC42 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 CDC42 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874292 ENSG00000230068 OTTHUMG00000002890 uc057ddo.1 CDC42-IT1 -HGNC:1737 CDC42BPA CDC42 binding protein kinase alpha protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "MRCKA|PK428|FLJ23347|KIAA0451|MRCK" myotonic dystrophy kinase-related Cdc42-binding kinase CDC42-binding protein kinase alpha (DMPK-like) AGC family kinases 1625 1998-11-06 2016-01-05 2023-01-20 8476 ENSG00000143776 OTTHUMG00000037618 uc001hqr.4 U59305 NM_014826 "CCDS1558|CCDS1559|CCDS91170|CCDS91169|CCDS91168" Q5VT25 MGI:2441841 RGD:621406 603412 objectId:1507 HGNC:1737 "ENST00000366766.8|NM_001394014.1" -HGNC:1738 CDC42BPB CDC42 binding protein kinase beta protein-coding gene gene with protein product Approved 14q32.32 14q32.32 "MRCKB|KIAA1124" CDC42-binding protein kinase beta (DMPK-like) AGC family kinases 1625 1998-11-06 2016-01-05 2023-01-20 9578 ENSG00000198752 OTTHUMG00000171898 uc001ymi.2 AF128625 NM_006035 "CCDS9978|CCDS91935" Q9Y5S2 10198171 MGI:2136459 RGD:621753 614062 objectId:1508 HGNC:1738 "ENST00000361246.7|NM_006035.4" HGNC:1738 +HGNC:1737 CDC42BPA CDC42 binding protein kinase alpha protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "MRCKA|PK428|FLJ23347|KIAA0451|MRCK" myotonic dystrophy kinase-related Cdc42-binding kinase CDC42-binding protein kinase alpha (DMPK-like) AGC family kinases 1625 1998-11-06 2016-01-05 2023-01-20 8476 ENSG00000143776 OTTHUMG00000037618 uc001hqr.4 U59305 NM_014826 "CCDS91169|CCDS1559|CCDS91170|CCDS1558|CCDS91168" Q5VT25 MGI:2441841 RGD:621406 603412 objectId:1507 HGNC:1737 "ENST00000366766.8|NM_001394014.1" +HGNC:1738 CDC42BPB CDC42 binding protein kinase beta protein-coding gene gene with protein product Approved 14q32.32 14q32.32 "MRCKB|KIAA1124" CDC42-binding protein kinase beta (DMPK-like) AGC family kinases 1625 1998-11-06 2016-01-05 2023-01-20 9578 ENSG00000198752 OTTHUMG00000171898 uc001ymi.2 AF128625 NM_006035 "CCDS91935|CCDS9978" Q9Y5S2 10198171 MGI:2136459 RGD:621753 614062 objectId:1508 HGNC:1738 "ENST00000361246.7|NM_006035.4" HGNC:1738 HGNC:29829 CDC42BPG CDC42 binding protein kinase gamma protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HSMDPKIN|MRCKgamma|DMPK2|kappa-200" CDC42 binding protein kinase gamma (DMPK-like) "Pleckstrin homology domain containing|AGC family kinases" "682|1625" 2004-11-15 2016-01-05 2023-01-20 55561 ENSG00000171219 OTTHUMG00000045365 uc001obs.5 AY648038 NM_017525 CCDS31601 Q6DT37 "9341881|15194684" MGI:2652845 RGD:1307260 613991 objectId:1506 HGNC:29829 "ENST00000342711.6|NM_017525.3" HGNC:17014 CDC42EP1 CDC42 effector protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "MSE55|CEP1|Borg5" "55 kDa bone marrow stromal/endothelial cell protein|serum constituent protein|binder of Rho GTPases 5" CDC42 effector protein (Rho GTPase binding) 1 CDC42 effector proteins 1164 2002-08-27 2016-01-07 2023-01-20 11135 ENSG00000128283 OTTHUMG00000150591 uc003asz.5 M88338 NM_152243 CCDS13949 Q00587 "1629197|10430899" MGI:1929763 RGD:1311131 606084 HGNC:17014 "ENST00000249014.5|NM_152243.3" HGNC:16263 CDC42EP2 CDC42 effector protein 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "CEP2|BORG1" "CRIB-containing BOGR1 protein|binder of Rho GTPases 1" CDC42 effector protein (Rho GTPase binding) 2 CDC42 effector proteins 1164 2002-08-27 2016-01-07 2023-01-20 10435 ENSG00000149798 OTTHUMG00000165958 uc001odl.3 AF098290 NM_006779 CCDS8099 O14613 "10490598|11035016" MGI:1929744 RGD:1310253 606132 HGNC:16263 "ENST00000279249.3|NM_006779.4" @@ -4034,11 +4034,11 @@ HGNC:44430 CDC42P6 CDC42 pseudogene 6 pseudogene pseudogene Approved 4p15.2 04p1 HGNC:56410 CDC42P7 CDC42 pseudogene 7 pseudogene pseudogene Approved 3p22.2 03p22.2 2022-10-19 2022-10-19 101409262 ENSG00000237982 NG_033224 PGOHUM00000299000 HGNC:17719 CDC42SE1 CDC42 small effector 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "SCIP1|SPEC1" 2004-07-02 2023-01-20 56882 ENSG00000197622 OTTHUMG00000035158 uc001ewp.4 AF187845 NM_020239 CCDS981 Q9NRR8 10816584 MGI:1889510 RGD:1561700 619456 HGNC:17719 "ENST00000357235.6|NM_020239.4" HGNC:18547 CDC42SE2 CDC42 small effector 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "FLJ21967|SPEC2" 2004-07-02 2023-01-20 56990 ENSG00000158985 OTTHUMG00000162692 uc003kvj.4 AF189692 NM_020240 CCDS34224 Q9NRR3 10816584 MGI:1919979 RGD:1563924 619457 HGNC:18547 "ENST00000505065.2|NM_001375635.1" -HGNC:1739 CDC45 cell division cycle 45 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 human CDC45 "CDC45L2|CDC45L" "CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like|CDC45 cell division cycle 45-like (S. cerevisiae)|cell division cycle 45 homolog (S. cerevisiae)" CMG helicase complex 1999 1998-09-08 2010-03-24 2013-01-17 2023-01-20 8318 ENSG00000093009 OTTHUMG00000150386 uc002zpr.5 AF053074 NM_003504 "CCDS54499|CCDS13762|CCDS54500" O75419 "9660782|9724329|17608804" MGI:1338073 RGD:1590928 603465 461769 HGNC:1739 "ENST00000263201.7|NM_003504.5" HGNC:1739 +HGNC:1739 CDC45 cell division cycle 45 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 human CDC45 "CDC45L2|CDC45L" "CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like|CDC45 cell division cycle 45-like (S. cerevisiae)|cell division cycle 45 homolog (S. cerevisiae)" CMG helicase complex 1999 1998-09-08 2010-03-24 2013-01-17 2023-01-20 8318 ENSG00000093009 OTTHUMG00000150386 uc002zpr.5 AF053074 NM_003504 "CCDS54499|CCDS54500|CCDS13762" O75419 "9660782|9724329|17608804" MGI:1338073 RGD:1590928 603465 461769 HGNC:1739 "ENST00000263201.7|NM_003504.5" HGNC:1739 HGNC:16783 CDC73 cell division cycle 73 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "parafibromin|FIHP" Paf1/RNA polymerase II complex component "C1orf28|HRPT2|HRPT1" "chromosome 1 open reading frame 28|hyperparathyroidism 2 (with jaw tumor)|cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)|hyperparathyroidism 1|Familial isolated hyperparathyroidism" "Paf1/RNA polymerase II complex |MicroRNA protein coding host genes" "1029|1691" 2001-10-08 2005-07-20 2013-01-17 2023-01-20 79577 ENSG00000134371 OTTHUMG00000035676 uc001gtb.4 AF312865 NM_024529 CCDS1382 Q6P1J9 "11318611|15632063|18755853" MGI:2384876 RGD:1311766 LRG_507|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_507.xml CDC73 607393 119271 HGNC:16783 "ENST00000367435.5|NM_024529.5" HGNC:16783 HGNC:16827 CDC123 cell division cycle 123 protein-coding gene gene with protein product Approved 10p14-p13 10p14-p13 D123 C10orf7 "chromosome 10 open reading frame 7|cell division cycle 123 homolog (S. cerevisiae)" 2003-03-10 2006-11-06 2013-01-17 2023-01-20 8872 ENSG00000151465 OTTHUMG00000017680 uc001ill.4 BC001600 NM_006023 CCDS7090 O75794 15319434 MGI:2138811 RGD:619766 617708 HGNC:16827 "ENST00000281141.9|NM_006023.3" HGNC:14623 CDCA2 cell division cycle associated 2 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "Repo-Man|PPP1R81" protein phosphatase 1, regulatory subunit 81 Protein phosphatase 1 regulatory subunits 694 2002-04-03 2023-01-20 157313 ENSG00000184661 OTTHUMG00000099429 uc003xep.2 BG354575 NM_152562 "CCDS6049|CCDS83266" Q69YH5 "12188893|16492807" MGI:1919787 RGD:1311003 618785 HGNC:14623 "ENST00000330560.8|NM_152562.4" -HGNC:14624 CDCA3 cell division cycle associated 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "TOME-1|GRCC8" trigger of mitotic entry 1 2002-04-03 2023-01-20 83461 ENSG00000111665 OTTHUMG00000169014 uc001qrg.3 BG354576 NM_031299 "CCDS76512|CCDS73428|CCDS76513|CCDS8565" Q99618 "9074930|12188893" MGI:1315198 RGD:1359093 607749 HGNC:14624 "ENST00000538862.7|NM_031299.7" +HGNC:14624 CDCA3 cell division cycle associated 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "TOME-1|GRCC8" trigger of mitotic entry 1 2002-04-03 2023-01-20 83461 ENSG00000111665 OTTHUMG00000169014 uc001qrg.3 BG354576 NM_031299 "CCDS76513|CCDS8565|CCDS73428|CCDS76512" Q99618 "9074930|12188893" MGI:1315198 RGD:1359093 607749 HGNC:14624 "ENST00000538862.7|NM_031299.7" HGNC:56264 CDCA3P1 CDCA3 pseudogene 1 pseudogene pseudogene Approved 7p14.1 07p14.1 lncCDCA3L 2022-07-13 2022-07-13 125775241 ENSG00000225314 NG_084046 35230745 HGNC:14625 CDCA4 cell division cycle associated 4 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "FLJ20764|Hepp" hematopoietic progenitor protein 2002-04-03 2023-01-20 55038 ENSG00000170779 OTTHUMG00000170767 uc001yqb.3 BG354577 NM_145701 CCDS9996 Q9BXL8 12188893 MGI:1919213 RGD:1563593 612270 HGNC:14625 "ENST00000336219.4|NM_017955.4" HGNC:49770 CDCA4P1 cell division cycle associated 4 pseudogene 1 pseudogene pseudogene Approved 9p22.3 09p22.3 2014-02-14 2014-02-14 100420502 ENSG00000229029 OTTHUMG00000019571 NG_023874 PGOHUM00000236391 HGNC:49770 @@ -4046,8 +4046,8 @@ HGNC:49771 CDCA4P2 cell division cycle associated 4 pseudogene 2 pseudogene pseu HGNC:49772 CDCA4P3 cell division cycle associated 4 pseudogene 3 pseudogene pseudogene Approved 1q32.2 01q32.2 2014-02-14 2014-02-14 100420558 ENSG00000226289 OTTHUMG00000057673 NG_027199 PGOHUM00000245189 HGNC:49772 HGNC:49773 CDCA4P4 cell division cycle associated 4 pseudogene 4 pseudogene pseudogene Approved 1q32.2 01q32.2 2014-02-14 2014-02-14 100188945 ENSG00000234219 OTTHUMG00000057675 NG_008470 PGOHUM00000245191 HGNC:49773 HGNC:14626 CDCA5 cell division cycle associated 5 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 sororin 2002-04-03 2023-01-20 113130 ENSG00000146670 OTTHUMG00000150420 uc001ocp.3 BG354578 NM_080668 CCDS8091 Q96FF9 "12188893|15837422" MGI:1915099 RGD:1560863 609374 470058 HGNC:14626 "ENST00000275517.8|NM_080668.4" -HGNC:14628 CDCA7 cell division cycle associated 7 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "FLJ14736|JPO1" 2002-04-03 2023-01-20 83879 ENSG00000144354 OTTHUMG00000132296 uc002uid.2 BG354580 NM_031942 "CCDS2252|CCDS2253" Q9BWT1 "11598121|12188893" MGI:1914203 RGD:1309363 609937 436811 HGNC:14628 "ENST00000306721.8|NM_031942.5" HGNC:14628 -HGNC:30777 CDCA7L cell division cycle associated 7 like protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "RAM2|R1|JPO2" cell division cycle associated 7-like 2005-05-13 2016-02-03 2023-01-20 55536 ENSG00000164649 OTTHUMG00000128429 uc010kuk.4 NM_018719 "CCDS5374|CCDS47558|CCDS47559" Q96GN5 16829576 MGI:2384982 RGD:1564080 609685 HGNC:30777 "ENST00000406877.8|NM_018719.5" +HGNC:14628 CDCA7 cell division cycle associated 7 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "FLJ14736|JPO1" 2002-04-03 2023-01-20 83879 ENSG00000144354 OTTHUMG00000132296 uc002uid.2 BG354580 NM_031942 "CCDS2253|CCDS2252" Q9BWT1 "11598121|12188893" MGI:1914203 RGD:1309363 609937 436811 HGNC:14628 "ENST00000306721.8|NM_031942.5" HGNC:14628 +HGNC:30777 CDCA7L cell division cycle associated 7 like protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "RAM2|R1|JPO2" cell division cycle associated 7-like 2005-05-13 2016-02-03 2023-01-20 55536 ENSG00000164649 OTTHUMG00000128429 uc010kuk.4 NM_018719 "CCDS5374|CCDS47559|CCDS47558" Q96GN5 16829576 MGI:2384982 RGD:1564080 609685 HGNC:30777 "ENST00000406877.8|NM_018719.5" HGNC:14629 CDCA8 cell division cycle associated 8 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ12042|MESRGP|BOR|DasraB" borealin Chromosomal passenger complex 1338 2002-04-03 2023-01-20 55143 ENSG00000134690 OTTHUMG00000004320 uc001cbs.5 BG354581 NM_018101 CCDS424 Q53HL2 "12188893|15260989" MGI:1196274 RGD:1566306 609977 HGNC:14629 "ENST00000373055.6|NM_001256875.2" HGNC:24357 CDCP1 CUB domain containing protein 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CD318|SIMA135" CD molecules 471 2005-02-24 2023-01-20 64866 ENSG00000163814 OTTHUMG00000133090 uc003com.5 AF468010 NM_022842 "CCDS46812|CCDS2727" Q9H5V8 11466621 MGI:2442010 RGD:1305578 611735 CD318 HGNC:24357 "ENST00000296129.6|NM_022842.5" HGNC:27297 CDCP2 CUB domain containing protein 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 2006-01-20 2023-01-20 200008 ENSG00000157211 OTTHUMG00000155307 uc001cwv.3 NM_201546 "CCDS588|CCDS85977" Q5VXM1 12477932 MGI:3045328 RGD:1563467 612320 HGNC:27297 "ENST00000530059.3|NM_001353655.3" @@ -4058,46 +4058,46 @@ HGNC:56084 CDH3-AS1 CDH3 antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:1763 CDH4 cadherin 4 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 R-CAD R-Cadherin cadherin 4, type 1, R-cadherin (retinal) Type I classical cadherins 1185 1995-08-11 2016-01-15 2023-01-20 1002 ENSG00000179242 OTTHUMG00000032890 uc032pok.1 L34059 NM_001794 "CCDS13488|CCDS58784" P55283 "10191097|10516427" MGI:99218 RGD:621091 603006 HGNC:1763 "ENST00000614565.5|NM_001794.5" HGNC:1763 HGNC:1764 CDH5 cadherin 5 protein-coding gene gene with protein product Approved 16q21 16q21 "7B4|CD144" VE-cadherin "cadherin 5, type 2, VE-cadherin (vascular epithelium)|cadherin 5, type 2 (vascular endothelium)" "CD molecules|Type II classical cadherins" "471|1186" 1992-11-20 2016-01-15 2023-01-20 1003 ENSG00000179776 OTTHUMG00000137495 uc002eom.5 X79981 NM_001795 CCDS10804 P33151 2059658 MGI:105057 RGD:1307370 601120 CD144 HGNC:1764 "ENST00000341529.8|NM_001795.5" HGNC:1765 CDH6 cadherin 6 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 K-Cadherin cadherin 6, type 2, K-cadherin (fetal kidney) Type II classical cadherins 1186 1997-02-10 2016-01-15 2023-01-20 1004 ENSG00000113361 OTTHUMG00000090673 uc003jhe.3 D31784 NM_004932 CCDS3894 P55285 "7743525|10191097" MGI:107435 RGD:2322 603007 HGNC:1765 "ENST00000265071.3|NM_004932.4" -HGNC:1766 CDH7 cadherin 7 protein-coding gene gene with protein product Approved 18q22.1 18q22.1 cadherin 7, type 2 Type II classical cadherins 1186 1997-02-10 2016-01-15 2023-01-20 1005 ENSG00000081138 OTTHUMG00000132800 uc002lkb.4 AB035301 NM_033646 "CCDS11993|CCDS82259" Q9ULB5 9615235 MGI:2442792 RGD:1306856 605806 HGNC:1766 "ENST00000397968.4|NM_004361.5" -HGNC:1767 CDH8 cadherin 8 protein-coding gene gene with protein product Approved 16q21 16q21 cadherin 8, type 2 Type II classical cadherins 1186 1997-02-10 2016-01-15 2023-01-20 1006 ENSG00000150394 OTTHUMG00000137493 uc002eog.3 L34060 NM_001796 "CCDS10802|CCDS92168" P55286 "9615235|2059658" MGI:107434 RGD:69286 603008 HGNC:1767 "ENST00000577390.6|NM_001796.5" +HGNC:1766 CDH7 cadherin 7 protein-coding gene gene with protein product Approved 18q22.1 18q22.1 cadherin 7, type 2 Type II classical cadherins 1186 1997-02-10 2016-01-15 2023-01-20 1005 ENSG00000081138 OTTHUMG00000132800 uc002lkb.4 AB035301 NM_033646 "CCDS82259|CCDS11993" Q9ULB5 9615235 MGI:2442792 RGD:1306856 605806 HGNC:1766 "ENST00000397968.4|NM_004361.5" +HGNC:1767 CDH8 cadherin 8 protein-coding gene gene with protein product Approved 16q21 16q21 cadherin 8, type 2 Type II classical cadherins 1186 1997-02-10 2016-01-15 2023-01-20 1006 ENSG00000150394 OTTHUMG00000137493 uc002eog.3 L34060 NM_001796 "CCDS92168|CCDS10802" P55286 "9615235|2059658" MGI:107434 RGD:69286 603008 HGNC:1767 "ENST00000577390.6|NM_001796.5" HGNC:55399 CDH8-AS1 CDH8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q21 16q21 Antisense RNAs 1987 2020-12-21 2020-12-21 119863871 ENSG00000260115 HGNC:1768 CDH9 cadherin 9 protein-coding gene gene with protein product Approved 5p14.1 05p14.1 cadherin 9, type 2 (T1-cadherin) Type II classical cadherins 1186 1997-02-10 2016-01-15 2023-01-20 1007 ENSG00000113100 OTTHUMG00000090671 uc003jgs.2 AB035302 NM_016279 CCDS3893 Q9ULB4 2059658 MGI:107433 RGD:1308343 609974 470062 HGNC:1768 "ENST00000231021.9|NM_016279.4" HGNC:1749 CDH10 cadherin 10 protein-coding gene gene with protein product Approved 5p14.2-p14.1 05p14.2-p14.1 cadherin 10, type 2 (T2-cadherin) Type II classical cadherins 1186 1997-02-10 2016-01-15 2023-01-20 1008 ENSG00000040731 OTTHUMG00000090667 uc003jgr.3 AF039747 NM_006727 CCDS3892 Q9Y6N8 2059658 MGI:107436 RGD:619741 604555 470060 HGNC:1749 "ENST00000264463.8|NM_006727.5" -HGNC:1750 CDH11 cadherin 11 protein-coding gene gene with protein product Approved 16q21 16q21 "OB|CAD11" OB-Cadherin cadherin 11, type 2, OB-cadherin (osteoblast) Type II classical cadherins 1186 1995-03-30 2016-01-15 2023-01-20 1009 ENSG00000140937 OTTHUMG00000137494 uc002eoi.4 D21255 NM_033664 "CCDS81993|CCDS10803|CCDS81992" P55287 9615235 MGI:99217 RGD:619742 CDH11 600023 HGNC:1750 "ENST00000268603.9|NM_001797.4" HGNC:1750 -HGNC:1751 CDH12 cadherin 12 protein-coding gene gene with protein product Approved 5p14.3 05p14.3 "Br-cadherin|CDHB" cadherin 12, type 2 (N-cadherin 2) Type II classical cadherins 1186 1995-07-14 2016-01-15 2023-01-20 1010 ENSG00000154162 OTTHUMG00000090591 uc063cos.1 L33477 NM_004061 "CCDS3890|CCDS82991" P55289 7731968 MGI:109503 RGD:1566350 600562 HGNC:1751 "ENST00000382254.6|NM_004061.5" +HGNC:1750 CDH11 cadherin 11 protein-coding gene gene with protein product Approved 16q21 16q21 "OB|CAD11" OB-Cadherin cadherin 11, type 2, OB-cadherin (osteoblast) Type II classical cadherins 1186 1995-03-30 2016-01-15 2023-01-20 1009 ENSG00000140937 OTTHUMG00000137494 uc002eoi.4 D21255 NM_033664 "CCDS81993|CCDS81992|CCDS10803" P55287 9615235 MGI:99217 RGD:619742 CDH11 600023 HGNC:1750 "ENST00000268603.9|NM_001797.4" HGNC:1750 +HGNC:1751 CDH12 cadherin 12 protein-coding gene gene with protein product Approved 5p14.3 05p14.3 "Br-cadherin|CDHB" cadherin 12, type 2 (N-cadherin 2) Type II classical cadherins 1186 1995-07-14 2016-01-15 2023-01-20 1010 ENSG00000154162 OTTHUMG00000090591 uc063cos.1 L33477 NM_004061 "CCDS82991|CCDS3890" P55289 7731968 MGI:109503 RGD:1566350 600562 HGNC:1751 "ENST00000382254.6|NM_004061.5" HGNC:37698 CDH12P1 cadherin 12 pseudogene 1 pseudogene pseudogene Approved 5q13.2 05q13.2 cadherin 12 (N-cadherin 2) pseudogene 1 2010-01-20 2016-01-15 2016-01-15 100093625 ENSG00000254335 OTTHUMG00000164541 NG_007328.2 PGOHUM00000300623 HGNC:37698 HGNC:1752 CDH12P2 cadherin 12 pseudogene 2 pseudogene pseudogene Approved 5q13.2 05q13.2 C41-CAD CDH12P "cadherin 12 (N-cadherin 2) pseudogene|cadherin 12 (N-cadherin 2) pseudogene 2" 1995-11-30 2010-01-20 2016-01-15 2016-01-15 1011 ENSG00000249230 OTTHUMG00000162392 AC004999 NR_002209 "7731968|10369862" PGOHUM00000300615 HGNC:1752 HGNC:37699 CDH12P3 cadherin 12 pseudogene 3 pseudogene pseudogene Approved 5q13.2 05q13.2 cadherin 12 (N-cadherin 2) pseudogene 3 2010-01-20 2016-01-15 2016-01-15 100093624 ENSG00000253492 OTTHUMG00000162449 NG_007327.1 PGOHUM00000257125 HGNC:37699 HGNC:37700 CDH12P4 cadherin 12 pseudogene 4 pseudogene pseudogene Approved 5q13.2 05q13.2 cadherin 12 (N-cadherin 2) pseudogene 4 2010-01-20 2016-01-15 2016-01-15 100093626 ENSG00000253900 OTTHUMG00000164582 NG_007329.1 PGOHUM00000301002 HGNC:37700 -HGNC:1753 CDH13 cadherin 13 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 CDHH "T-cadherin|H-cadherin (heart)" "Major cadherins|MicroRNA protein coding host genes" "18|1691" 1997-02-10 2013-08-27 2023-01-20 1012 ENSG00000140945 OTTHUMG00000176635 uc010vns.3 U59288 NM_001257 "CCDS56009|CCDS58486|CCDS58485|CCDS58487|CCDS56010" P55290 "8673923|9468307" MGI:99551 RGD:619745 601364 HGNC:1753 "ENST00000567109.6|NM_001257.5" +HGNC:1753 CDH13 cadherin 13 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 CDHH "T-cadherin|H-cadherin (heart)" "Major cadherins|MicroRNA protein coding host genes" "18|1691" 1997-02-10 2013-08-27 2023-01-20 1012 ENSG00000140945 OTTHUMG00000176635 uc010vns.3 U59288 NM_001257 "CCDS58487|CCDS58486|CCDS56009|CCDS56010|CCDS58485" P55290 "8673923|9468307" MGI:99551 RGD:619745 601364 HGNC:1753 "ENST00000567109.6|NM_001257.5" HGNC:55989 CDH13-AS1 CDH13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q23.3 16q23.3 RP11-543N12.1 Antisense RNAs 1987 2021-11-15 2021-11-15 105371368 ENSG00000261410 XR_007065144 29956723 HGNC:56243 CDH13-AS2 CDH13 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 16q23.3 16q23.3 Antisense RNAs 1987 2022-05-12 2022-05-12 102724163 ENSG00000260228 NR_120308 35154431 HGNC:1754 CDH15 cadherin 15 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "CDH3|CDH14" "cadherin 15, M-cadherin (myotubule)|cadherin 15, type 1, M-cadherin (myotubule)" Type I classical cadherins 1185 1994-12-14 2016-01-15 2023-01-20 1013 ENSG00000129910 OTTHUMG00000138045 uc002fmt.4 D83542 NM_004933 CCDS10976 P55291 "1427864|9615235" MGI:106672 RGD:1303000 114019 199894 HGNC:1754 "ENST00000289746.3|NM_004933.3" HGNC:1754 -HGNC:1755 CDH16 cadherin 16 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 cadherin 16, KSP-cadherin 7D cadherins 1187 1997-02-10 2015-12-04 2023-01-20 1014 ENSG00000166589 OTTHUMG00000137518 uc002eql.3 AF016272 NM_004062 "CCDS56002|CCDS10823|CCDS58471|CCDS58472" O75309 "9721215|7615566" MGI:106671 RGD:1311638 603118 HGNC:1755 "ENST00000299752.9|NM_004062.4" +HGNC:1755 CDH16 cadherin 16 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 cadherin 16, KSP-cadherin 7D cadherins 1187 1997-02-10 2015-12-04 2023-01-20 1014 ENSG00000166589 OTTHUMG00000137518 uc002eql.3 AF016272 NM_004062 "CCDS58471|CCDS10823|CCDS58472|CCDS56002" O75309 "9721215|7615566" MGI:106671 RGD:1311638 603118 HGNC:1755 "ENST00000299752.9|NM_004062.4" HGNC:1756 CDH17 cadherin 17 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "HPT-1|cadherin" cadherin 17, LI cadherin (liver-intestine) 7D cadherins 1187 1997-02-10 2016-01-15 2023-01-20 1015 ENSG00000079112 OTTHUMG00000164391 uc011lgp.2 X83228 NM_004063 CCDS6260 Q12864 "9615235|10191097" MGI:1095414 RGD:619748 603017 HGNC:1756 "ENST00000027335.8|NM_004063.4" HGNC:1757 CDH18 cadherin 18 protein-coding gene gene with protein product Approved 5p14.3 05p14.3 "CDH14|EY-CADHERIN" cadherin 18, type 2 Type II classical cadherins 1186 1997-06-25 2016-01-15 2023-01-20 1016 ENSG00000145526 OTTHUMG00000090578 uc003jgc.4 U59325 NM_004934 "CCDS54835|CCDS75229|CCDS3889" Q13634 "9030594|10191097" MGI:1344366 RGD:1305430 603019 HGNC:1757 "ENST00000382275.6|NM_004934.5" HGNC:53088 CDH18-AS1 CDH18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p14.3 05p14.3 Antisense RNAs 1987 2017-02-08 2017-02-08 102725105 ENSG00000249854 OTTHUMG00000162015 NR_146519 HGNC:53088 HGNC:1758 CDH19 cadherin 19 protein-coding gene gene with protein product Approved 18q22.1 18q22.1 CDH7 cadherin 19, type 2 Type II classical cadherins 1186 1998-11-18 2016-01-15 2023-01-20 28513 ENSG00000071991 OTTHUMG00000132802 uc002lkc.3 AJ007607 NM_021153 "CCDS11994|CCDS59325" Q9H159 10995570 MGI:3588198 RGD:1307169 603016 HGNC:1758 "ENST00000262150.7|NM_021153.4" HGNC:1760 CDH20 cadherin 20 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "CDH7L3|Cdh7" cadherin 20, type 2 Type II classical cadherins 1186 1998-11-18 2016-01-15 2023-01-20 28316 ENSG00000101542 OTTHUMG00000132768 uc002lif.3 AF217289 NM_031891 CCDS11977 Q9HBT6 10995570 MGI:1346069 RGD:1305438 605807 HGNC:1760 "ENST00000262717.9|NM_031891.4" HGNC:13251 CDH22 cadherin 22 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ998H6.1 C20orf25 "cadherin-like 22|cadherin 22, type 2" Type II classical cadherins 1186 2001-06-01 2016-01-15 2023-01-20 64405 ENSG00000149654 OTTHUMG00000033073 uc010ghk.3 AF035300 NM_021248 CCDS13395 Q9UJ99 8626716 MGI:1341843 RGD:2321 609920 HGNC:13251 "ENST00000537909.4|NM_021248.3" -HGNC:13733 CDH23 cadherin related 23 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 CDHR23 cadherin-related family member 23 "DFNB12|USH1D" cadherin-like 23 "Cadherin related|MicroRNA protein coding host genes" "24|1691" 2000-10-19 2016-06-03 2023-01-20 64072 ENSG00000107736 OTTHUMG00000019347 uc057twh.2 AY010111 NM_052836 "CCDS73146|CCDS44429|CCDS81472|CCDS81473|CCDS86100|CCDS53540" Q9H251 11090341 MGI:1890219 RGD:619760 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|Mutations of the Cadherin-related Protein 23 Gene|http://www.retina-international.org/files/sci-news/cdh23mut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=CDH23" 605516 119281 HGNC:13733 "ENST00000224721.12|NM_022124.6" HGNC:13733 +HGNC:13733 CDH23 cadherin related 23 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 CDHR23 cadherin-related family member 23 "DFNB12|USH1D" cadherin-like 23 "Cadherin related|MicroRNA protein coding host genes" "24|1691" 2000-10-19 2016-06-03 2023-01-20 64072 ENSG00000107736 OTTHUMG00000019347 uc057twh.2 AY010111 NM_052836 "CCDS73146|CCDS81472|CCDS81473|CCDS53540|CCDS86100|CCDS44429" Q9H251 11090341 MGI:1890219 RGD:619760 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|Mutations of the Cadherin-related Protein 23 Gene|http://www.retina-international.org/files/sci-news/cdh23mut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=CDH23" 605516 119281 HGNC:13733 "ENST00000224721.12|NM_022124.6" HGNC:13733 HGNC:31433 CDH23-AS1 CDH23 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.1 10q22.1 bA327E2.3 "C10orf106|NCRNA00223" "chromosome 10 open reading frame 106|non-protein coding RNA 223|CDH23 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-08-11 2012-08-15 2020-04-20 102723377 ENSG00000223817 OTTHUMG00000018425 uc057twm.1 NR_120672 CDH23-AS1 HGNC:31433 -HGNC:14265 CDH24 cadherin 24 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 CDH11L "cadherin-like 24|cadherin 24, type 2" Type II classical cadherins 1186 2000-12-19 2016-01-15 2023-01-20 64403 ENSG00000139880 OTTHUMG00000028715 uc010akf.4 AL137477 NM_022478 "CCDS9585|CCDS9586" Q86UP0 12734196 MGI:1928330 RGD:1560161 618599 HGNC:14265 "ENST00000487137.7|NM_144985.4" -HGNC:15902 CDH26 cadherin 26 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 VR20 cadherin-like 26 Major cadherins 18 2001-06-21 2009-11-20 2023-01-20 60437 ENSG00000124215 OTTHUMG00000032874 uc002ybe.4 "AF169690|AK055202" NM_177980 "CCDS86964|CCDS13486|CCDS13485" Q8IXH8 MGI:2685856 RGD:1311632 617685 HGNC:15902 "ENST00000348616.9|NM_177980.4" +HGNC:14265 CDH24 cadherin 24 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 CDH11L "cadherin-like 24|cadherin 24, type 2" Type II classical cadherins 1186 2000-12-19 2016-01-15 2023-01-20 64403 ENSG00000139880 OTTHUMG00000028715 uc010akf.4 AL137477 NM_022478 "CCDS9586|CCDS9585" Q86UP0 12734196 MGI:1928330 RGD:1560161 618599 HGNC:14265 "ENST00000487137.7|NM_144985.4" +HGNC:15902 CDH26 cadherin 26 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 VR20 cadherin-like 26 Major cadherins 18 2001-06-21 2009-11-20 2023-01-20 60437 ENSG00000124215 OTTHUMG00000032874 uc002ybe.4 "AF169690|AK055202" NM_177980 "CCDS13485|CCDS13486|CCDS86964" Q8IXH8 MGI:2685856 RGD:1311632 617685 HGNC:15902 "ENST00000348616.9|NM_177980.4" HGNC:14550 CDHR1 cadherin related family member 1 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "KIAA1775|CORD15|RP65" PCDH21 "protocadherin 21|cadherin-related family member 1" Cadherin related 24 2001-02-13 2010-01-25 2015-11-23 2023-01-20 92211 ENSG00000148600 OTTHUMG00000018634 uc001kcv.4 AB053448 NM_033100 "CCDS53548|CCDS7372" Q96JP9 11597768 MGI:2157782 RGD:620420 609502 244385 HGNC:14550 "ENST00000623527.4|NM_033100.4" HGNC:14550 HGNC:18231 CDHR2 cadherin related family member 2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "PC-LKC|FLJ20124|FLJ20383|PCLKC" protocadherin LKC PCDH24 "protocadherin 24|cadherin-related family member 2" Cadherin related 24 2008-01-18 2010-01-25 2015-11-23 2023-01-20 54825 ENSG00000074276 OTTHUMG00000163229 uc021yie.2 AB047004 NM_017675 CCDS34297 Q9BYE9 "11082270|12117771" MGI:2687323 RGD:1560576 619713 HGNC:18231 "ENST00000261944.10|NM_017675.6" HGNC:26308 CDHR3 cadherin related family member 3 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "FLJ44366|FLJ23834|CDH28" cadherin-related family member 3 Cadherin related 24 2010-01-25 2015-11-23 2023-01-20 222256 ENSG00000128536 OTTHUMG00000157520 uc003vdl.5 AK126338 NM_152750 "CCDS75651|CCDS47684" Q6ZTQ4 MGI:1916014 RGD:1591286 615610 HGNC:26308 "ENST00000317716.14|NM_152750.5" HGNC:34527 CDHR4 cadherin related family member 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 VLLR9392 CDH29 "cadherin-like 29|cadherin-related family member 4" Cadherin related 24 2008-09-18 2010-01-25 2015-11-23 2023-01-20 389118 ENSG00000187492 OTTHUMG00000158198 uc010hkz.4 NM_001007540 CCDS46829 A6H8M9 MGI:1916648 RGD:1306603 HGNC:34527 "ENST00000412678.7|NM_001007540.4" -HGNC:7521 CDHR5 cadherin related family member 5 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ20219|MU-PCDH" "MUCDHL|MUPCDH" "mucin and cadherin-like|mucin-like protocadherin|cadherin-related family member 5" Cadherin related 24 2000-05-19 2010-01-25 2015-11-23 2023-01-20 53841 ENSG00000099834 OTTHUMG00000132018 uc057xiz.1 AF258675 NM_021924 "CCDS91397|CCDS7707|CCDS7708" Q9HBB8 "11031102|10801787" MGI:1919290 RGD:620504 606839 HGNC:7521 "ENST00000397542.7|NM_021924.5" +HGNC:7521 CDHR5 cadherin related family member 5 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ20219|MU-PCDH" "MUCDHL|MUPCDH" "mucin and cadherin-like|mucin-like protocadherin|cadherin-related family member 5" Cadherin related 24 2000-05-19 2010-01-25 2015-11-23 2023-01-20 53841 ENSG00000099834 OTTHUMG00000132018 uc057xiz.1 AF258675 NM_021924 "CCDS7707|CCDS91397|CCDS7708" Q9HBB8 "11031102|10801787" MGI:1919290 RGD:620504 606839 HGNC:7521 "ENST00000397542.7|NM_021924.5" HGNC:53741 CDHR17P cadherin related family member 17, pseudogene pseudogene pseudogene Approved 7q21.11 07q21.11 2022-11-10 2022-11-10 127566420 ENSG00000233491 OTTHUMG00000155403 MGI:5579416 HGNC:53742 CDHR18P cadherin related family member 18, pseudogene pseudogene pseudogene Approved 3p14.2-p14.1 03p14.2-p14.1 2022-11-10 2022-11-10 100130345 ENSG00000224479 OTTHUMG00000155878 NR_171774 MGI:2685127 RGD:1565725 -HGNC:26929 CDIN1 CDAN1 interacting nuclease 1 protein-coding gene gene with protein product Approved 15q14 15q14 "HH114|MGC11326|FLJ22851" C15orf41 chromosome 15 open reading frame 41 2005-10-24 2020-04-02 2020-04-02 2023-01-20 84529 ENSG00000186073 OTTHUMG00000172659 uc059hjw.1 BC006254 NM_032499 "CCDS45215|CCDS86447|CCDS86446|CCDS86445|CCDS45216|CCDS81861" Q9Y2V0 "23716552|31191338|33121234" MGI:3026886 RGD:1563680 615626 362774 HGNC:26929 "ENST00000566621.6|NM_001321759.2" HGNC:26929 -HGNC:13234 CDIP1 cell death inducing p53 target 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CDIP|LITAFL" "cell death involved p53-target|lipopolysaccharide-induced TNF factor-like" C16orf5 "chromosome 16 open reading frame 5|cell death-inducing p53 target 1" 2004-04-30 2012-11-14 2016-07-14 2023-01-20 29965 ENSG00000089486 OTTHUMG00000177172 uc002cwv.4 AF131218 NM_013399 "CCDS42114|CCDS58420|CCDS58419" Q9H305 "10570909|17599062" MGI:1913876 RGD:1310686 610503 HGNC:13234 "ENST00000567695.6|NM_013399.3" -HGNC:1769 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "PIS1|PIS" phosphatidylinositol synthase CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase) 2000-02-01 2010-04-29 2023-01-20 10423 ENSG00000103502 OTTHUMG00000177144 uc002dum.5 AF014807 NM_006319 "CCDS67002|CCDS10657" O14735 9407135 MGI:105491 RGD:620576 605893 2.7.8.11 HGNC:1769 "ENST00000219789.11|NM_006319.5" +HGNC:26929 CDIN1 CDAN1 interacting nuclease 1 protein-coding gene gene with protein product Approved 15q14 15q14 "HH114|MGC11326|FLJ22851" C15orf41 chromosome 15 open reading frame 41 2005-10-24 2020-04-02 2020-04-02 2023-01-20 84529 ENSG00000186073 OTTHUMG00000172659 uc059hjw.1 BC006254 NM_032499 "CCDS86446|CCDS81861|CCDS45216|CCDS86445|CCDS45215|CCDS86447" Q9Y2V0 "23716552|31191338|33121234" MGI:3026886 RGD:1563680 615626 362774 HGNC:26929 "ENST00000566621.6|NM_001321759.2" HGNC:26929 +HGNC:13234 CDIP1 cell death inducing p53 target 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CDIP|LITAFL" "cell death involved p53-target|lipopolysaccharide-induced TNF factor-like" C16orf5 "chromosome 16 open reading frame 5|cell death-inducing p53 target 1" 2004-04-30 2012-11-14 2016-07-14 2023-01-20 29965 ENSG00000089486 OTTHUMG00000177172 uc002cwv.4 AF131218 NM_013399 "CCDS58420|CCDS58419|CCDS42114" Q9H305 "10570909|17599062" MGI:1913876 RGD:1310686 610503 HGNC:13234 "ENST00000567695.6|NM_013399.3" +HGNC:1769 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "PIS1|PIS" phosphatidylinositol synthase CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase) 2000-02-01 2010-04-29 2023-01-20 10423 ENSG00000103502 OTTHUMG00000177144 uc002dum.5 AF014807 NM_006319 "CCDS10657|CCDS67002" O14735 9407135 MGI:105491 RGD:620576 605893 2.7.8.11 HGNC:1769 "ENST00000219789.11|NM_006319.5" HGNC:48609 CDIPTOSP CDIP transferase opposite strand, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 lnc-CTHCC CDIPT-AS1 CDIPT antisense RNA 1 (head to head) 2013-05-24 2018-03-08 2018-03-08 2022-06-23 440356 ENSG00000214725 OTTHUMG00000177145 AK131031 NR_015396 P0DO92 35122073 MGI:2443610 RGD:7676737 CDIPT-AS1 HGNC:48609 HGNC:1722 CDK1 cyclin dependent kinase 1 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 CDC28A CDC2 cell division cycle 2, G1 to S and G2 to M Cyclin dependent kinases 496 1986-01-01 2009-12-16 2016-06-08 2023-03-15 983 ENSG00000170312 OTTHUMG00000018290 uc001jld.3 BC014563 NM_001786 "CCDS7260|CCDS44408" P06493 "3553962|19884882" MGI:88351 RGD:2319 116940 objectId:1961 HGNC:1722 "ENST00000395284.8|NM_001786.5" -HGNC:1771 CDK2 cyclin dependent kinase 2 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 Cyclin dependent kinases 496 1992-02-28 2016-06-08 2023-01-20 1017 ENSG00000123374 OTTHUMG00000170575 uc001sit.5 M68520 NM_001290230 "CCDS8899|CCDS76567|CCDS8898" P24941 "1717994|8275715" MGI:104772 RGD:70486 116953 objectId:1973 HGNC:1771 "ENST00000266970.9|NM_001798.5" -HGNC:14002 CDK2AP1 cyclin dependent kinase 2 associated protein 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "DORC1|doc-1|DOC1|ST19|p12DOC-1" CDK2-associated protein 1 2001-06-21 2016-06-08 2023-01-20 8099 ENSG00000111328 OTTHUMG00000168854 uc001ueq.5 AB006077 NM_004642 "CCDS9245|CCDS58289" O14519 "9331572|9506968" MGI:1202069 RGD:1308664 602198 HGNC:14002 "ENST00000261692.7|NM_004642.4" +HGNC:1771 CDK2 cyclin dependent kinase 2 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 Cyclin dependent kinases 496 1992-02-28 2016-06-08 2023-01-20 1017 ENSG00000123374 OTTHUMG00000170575 uc001sit.5 M68520 NM_001290230 "CCDS8898|CCDS8899|CCDS76567" P24941 "1717994|8275715" MGI:104772 RGD:70486 116953 objectId:1973 HGNC:1771 "ENST00000266970.9|NM_001798.5" +HGNC:14002 CDK2AP1 cyclin dependent kinase 2 associated protein 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "DORC1|doc-1|DOC1|ST19|p12DOC-1" CDK2-associated protein 1 2001-06-21 2016-06-08 2023-01-20 8099 ENSG00000111328 OTTHUMG00000168854 uc001ueq.5 AB006077 NM_004642 "CCDS58289|CCDS9245" O14519 "9331572|9506968" MGI:1202069 RGD:1308664 602198 HGNC:14002 "ENST00000261692.7|NM_004642.4" HGNC:56493 CDK2AP1P1 CDK2AP1 pseudogene 1 pseudogene pseudogene Approved 3q13.33 03q13.33 2022-10-20 2022-10-20 107986120 ENSG00000240774 PGOHUM00000299146 HGNC:30833 CDK2AP2 cyclin dependent kinase 2 associated protein 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "DOC-1R|p14" tumor suppressor deleted in oral cancer related 1 CDK2-associated protein 2 2005-04-07 2016-06-08 2023-01-20 10263 ENSG00000167797 OTTHUMG00000167676 uc001oma.5 AF089814 NM_005851 CCDS8169 O75956 10082655 MGI:1098779 RGD:1588883 620061 HGNC:30833 "ENST00000301488.8|NM_005851.5" HGNC:38492 CDK2AP2P1 cyclin dependent kinase 2 associated protein 2 pseudogene 1 pseudogene pseudogene Approved 9p11.2 09p11.2 2010-05-18 2016-06-08 2016-06-08 100289027 ENSG00000278647 OTTHUMG00000188454 NG_021654 PGOHUM00000304212 HGNC:38492 @@ -4111,8 +4111,8 @@ HGNC:21261 CDK5P1 cyclin dependent kinase 5 pseudogene 1 pseudogene pseudogene A HGNC:1775 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "p35nck5a|Nck5a|p35" cyclin-dependent kinase 5, regulatory subunit 1 (p35) 1999-03-08 2016-06-08 2023-01-20 8851 ENSG00000176749 OTTHUMG00000132814 uc002hhn.4 X80343 NM_003885 CCDS11273 Q15078 8090221 MGI:101764 RGD:629472 603460 HGNC:1775 "ENST00000313401.4|NM_003885.3" HGNC:1776 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 protein-coding gene gene with protein product Approved 2q35 02q35 "p39nck5ai|P39|NCK5AI" neuronal CDK5 activator isoform cyclin-dependent kinase 5, regulatory subunit 2 (p39) 1999-03-08 2016-06-08 2023-01-20 8941 ENSG00000171450 OTTHUMG00000133083 uc002vjf.5 U34051 NM_003936 CCDS2427 Q13319 7592934 MGI:1330828 RGD:1562530 603764 HGNC:1776 "ENST00000302625.6|NM_003936.5" HGNC:55677 CDK5R2-AS1 CDK5R2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2021-07-01 2021-07-01 121847983 ENSG00000235024 -HGNC:15880 CDK5RAP1 CDK5 regulatory subunit associated protein 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "CGI-05|HSPC167|C42" C20orf34 chromosome 20 open reading frame 34 Radical S-adenosylmethionine domain containing 2036 2001-06-21 2002-07-26 2002-07-22 2023-01-20 51654 ENSG00000101391 OTTHUMG00000032256 uc002wyz.5 AF152097 NM_016408 "CCDS13219|CCDS93031|CCDS63255" Q96SZ6 "10721722|11882646|15329498" MGI:1914221 RGD:708387 608200 HGNC:15880 "ENST00000346416.7|NM_016408.4" -HGNC:18672 CDK5RAP2 CDK5 regulatory subunit associated protein 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "C48|FLJ10867|CEP215" centrosomin MCPH3 microcephaly, primary autosomal recessive 3 2002-07-22 2023-01-20 55755 ENSG00000136861 OTTHUMG00000021043 uc004bkf.5 BK005504 NM_018249 "CCDS75888|CCDS43871|CCDS6823|CCDS94470|CCDS94469|CCDS94468" Q96SN8 "10721722|17764569|24466316" MGI:2384875 RGD:708451 608201 119292 HGNC:18672 "ENST00000349780.9|NM_018249.6" HGNC:18672 +HGNC:15880 CDK5RAP1 CDK5 regulatory subunit associated protein 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "CGI-05|HSPC167|C42" C20orf34 chromosome 20 open reading frame 34 Radical S-adenosylmethionine domain containing 2036 2001-06-21 2002-07-26 2002-07-22 2023-01-20 51654 ENSG00000101391 OTTHUMG00000032256 uc002wyz.5 AF152097 NM_016408 "CCDS63255|CCDS13219|CCDS93031" Q96SZ6 "10721722|11882646|15329498" MGI:1914221 RGD:708387 608200 HGNC:15880 "ENST00000346416.7|NM_016408.4" +HGNC:18672 CDK5RAP2 CDK5 regulatory subunit associated protein 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "C48|FLJ10867|CEP215" centrosomin MCPH3 microcephaly, primary autosomal recessive 3 2002-07-22 2023-01-20 55755 ENSG00000136861 OTTHUMG00000021043 uc004bkf.5 BK005504 NM_018249 "CCDS94468|CCDS94470|CCDS43871|CCDS94469|CCDS75888|CCDS6823" Q96SN8 "10721722|17764569|24466316" MGI:2384875 RGD:708451 608201 119292 HGNC:18672 "ENST00000349780.9|NM_018249.6" HGNC:18672 HGNC:18673 CDK5RAP3 CDK5 regulatory subunit associated protein 3 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "MST016|FLJ13660|C53|IC53|HSF-27|OK/SW-cl.114|LZAP" "ischemic heart CDK5 activator-binding protein C53|LXXLL/leucine-zipper-containing ARFbinding protein" 2002-07-22 2023-01-20 80279 ENSG00000108465 OTTHUMG00000178682 uc002imr.5 AF110322 NM_176096 "CCDS42356|CCDS62232" Q96JB5 10721722 MGI:1933126 RGD:620002 608202 HGNC:18673 "ENST00000338399.9|NM_176096.3" HGNC:1777 CDK6 cyclin dependent kinase 6 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 PLSTIRE Cyclin dependent kinases 496 1994-02-14 2016-06-08 2023-01-20 1021 ENSG00000105810 OTTHUMG00000131697 uc011khw.2 NM_001145306 CCDS5628 Q00534 1639063 MGI:1277162 RGD:621121 LRG_991|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_991.xml CDK6 603368 377025 objectId:1978 HGNC:1777 "ENST00000424848.3|NM_001145306.2" HGNC:1777 HGNC:40141 CDK6-AS1 CDK6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.2 07q21.2 BALR-2 B-ALL associated long RNA-2 Antisense RNAs 1987 2019-07-24 2019-09-18 101927497 ENSG00000237819 OTTHUMG00000155818 NR_110086 25681502 MGI:5595629 HGNC:40141 @@ -4122,29 +4122,29 @@ HGNC:1779 CDK8 cyclin dependent kinase 8 protein-coding gene gene with protein p HGNC:18995 CDK8P1 cyclin dependent kinase 8 pseudogene 1 pseudogene pseudogene Approved 2p25.1 02p25.1 CDK8PS cyclin dependent kinase 8 pseudogene 2003-07-21 2016-06-10 2016-06-10 2020-04-20 100419916 ENSG00000230044 NG_023549 HGNC:18995 HGNC:52296 CDK8P2 cyclin dependent kinase 8 pseudogene 2 pseudogene pseudogene Approved 2q14.1 02q14.1 2016-06-10 2016-06-10 100287419 ENSG00000227368 OTTHUMG00000153324 NG_021580 PGOHUM00000298647 HGNC:52296 HGNC:1780 CDK9 cyclin dependent kinase 9 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "PITALRE|C-2k|TAK" CDC2L4 cyclin-dependent kinase 9 (CDC2-related kinase) "Cyclin dependent kinases|P-TEFb complex subunits" "496|1281" 1998-04-29 2016-06-08 2023-01-20 1025 ENSG00000136807 OTTHUMG00000020715 uc004bse.3 L25676 NM_001261 CCDS6879 P50750 "8170997|9356449" MGI:1328368 RGD:1359638 603251 objectId:1981 HGNC:1780 "ENST00000373264.5|NM_001261.4" -HGNC:1770 CDK10 cyclin dependent kinase 10 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 PISSLRE cyclin-dependent kinase (CDC2-like) 10 "Cyclin dependent kinases|Spliceosomal C complex|Spliceosomal P complex" "496|1510|1516" 1998-11-30 2016-06-08 2023-01-20 8558 ENSG00000185324 OTTHUMG00000138049 uc010cio.3 L33264 NM_001098533 "CCDS32514|CCDS10984" Q15131 "8208557|8084611" MGI:2448549 RGD:1304851 603464 objectId:1962 HGNC:1770 "ENST00000353379.12|NM_052988.5" -HGNC:1730 CDK11A cyclin dependent kinase 11A protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "PITSLRE|CDK11-p110|CDK11-p58|CDK11-p46|p58GTA" "CDC2L3|CDC2L2" "cell division cycle 2-like 2|cell division cycle 2-like 2 (PITSLRE proteins)" Cyclin dependent kinases 496 1991-07-12 2009-12-16 2016-06-08 2023-01-20 728642 ENSG00000008128 OTTHUMG00000000703 uc009vks.4 AF067522 NM_024011 "CCDS81254|CCDS81253|CCDS44043|CCDS44042" Q9UQ88 "7920654|9750192|19884882" MGI:88353 116951 objectId:1963 HGNC:1730 "ENST00000404249.8|NM_024011.4" -HGNC:1729 CDK11B cyclin dependent kinase 11B protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "CDK11-p110|CDK11-p58|CDK11-p46" CDC2L1 cell division cycle 2-like 1 (PITSLRE proteins) Cyclin dependent kinases 496 1991-07-12 2009-12-16 2016-06-08 2023-01-20 984 ENSG00000248333 OTTHUMG00000078638 uc031tml.2 AK000081 NM_001787 "CCDS72683|CCDS72682|CCDS72684" P21127 "1774066|14511641|19884882" MGI:88353 RGD:628604 176873 objectId:1964 HGNC:1729 "ENST00000341832.11|NM_033486.3" +HGNC:1770 CDK10 cyclin dependent kinase 10 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 PISSLRE cyclin-dependent kinase (CDC2-like) 10 "Cyclin dependent kinases|Spliceosomal C complex|Spliceosomal P complex" "496|1510|1516" 1998-11-30 2016-06-08 2023-01-20 8558 ENSG00000185324 OTTHUMG00000138049 uc010cio.3 L33264 NM_001098533 "CCDS10984|CCDS32514" Q15131 "8208557|8084611" MGI:2448549 RGD:1304851 603464 objectId:1962 HGNC:1770 "ENST00000353379.12|NM_052988.5" +HGNC:1730 CDK11A cyclin dependent kinase 11A protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "PITSLRE|CDK11-p110|CDK11-p58|CDK11-p46|p58GTA" "CDC2L3|CDC2L2" "cell division cycle 2-like 2|cell division cycle 2-like 2 (PITSLRE proteins)" Cyclin dependent kinases 496 1991-07-12 2009-12-16 2016-06-08 2023-01-20 728642 ENSG00000008128 OTTHUMG00000000703 uc009vks.4 AF067522 NM_024011 "CCDS81253|CCDS44043|CCDS81254|CCDS44042" Q9UQ88 "7920654|9750192|19884882" MGI:88353 116951 objectId:1963 HGNC:1730 "ENST00000404249.8|NM_024011.4" +HGNC:1729 CDK11B cyclin dependent kinase 11B protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "CDK11-p110|CDK11-p58|CDK11-p46" CDC2L1 cell division cycle 2-like 1 (PITSLRE proteins) Cyclin dependent kinases 496 1991-07-12 2009-12-16 2016-06-08 2023-01-20 984 ENSG00000248333 OTTHUMG00000078638 uc031tml.2 AK000081 NM_001787 "CCDS72682|CCDS72684|CCDS72683" P21127 "1774066|14511641|19884882" MGI:88353 RGD:628604 176873 objectId:1964 HGNC:1729 "ENST00000341832.11|NM_033486.3" HGNC:24224 CDK12 cyclin dependent kinase 12 protein-coding gene gene with protein product Approved 17q12 17q12 "CRK7|CRKR|KIAA0904" CDC2 related protein kinase 7 CRKRS Cdc2-related kinase, arginine/serine-rich Cyclin dependent kinases 496 2005-12-13 2009-12-16 2016-06-08 2023-01-20 51755 ENSG00000167258 OTTHUMG00000133214 uc010cvv.5 AF227198 NM_016507 "CCDS45666|CCDS11337" Q9NYV4 "10048485|11683387|19884882" MGI:1098802 RGD:621111 LRG_1413|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1413.xml CDK12 615514 objectId:1965 HGNC:24224 "ENST00000447079.6|NM_016507.4" HGNC:24224 -HGNC:1733 CDK13 cyclin dependent kinase 13 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "CHED|CDC2L|KIAA1791" cholinesterase-related cell division controller CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller) Cyclin dependent kinases 496 2000-01-18 2009-12-16 2016-06-08 2023-01-20 8621 ENSG00000065883 OTTHUMG00000023726 uc003thh.5 M80629 NM_003718 "CCDS5462|CCDS5461" Q14004 "1731328|19884882" MGI:1916812 RGD:1311226 603309 objectId:1966 HGNC:1733 "ENST00000181839.10|NM_003718.5" HGNC:1733 +HGNC:1733 CDK13 cyclin dependent kinase 13 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "CHED|CDC2L|KIAA1791" cholinesterase-related cell division controller CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller) Cyclin dependent kinases 496 2000-01-18 2009-12-16 2016-06-08 2023-01-20 8621 ENSG00000065883 OTTHUMG00000023726 uc003thh.5 M80629 NM_003718 "CCDS5461|CCDS5462" Q14004 "1731328|19884882" MGI:1916812 RGD:1311226 603309 objectId:1966 HGNC:1733 "ENST00000181839.10|NM_003718.5" HGNC:1733 HGNC:55407 CDK13-DT CDK13 divergent transcript non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 Divergent transcripts 1990 2021-01-06 2021-01-06 112267983 ENSG00000259826 NR_158201 -HGNC:8883 CDK14 cyclin dependent kinase 14 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 PFTAIRE1 PFTK1 PFTAIRE protein kinase 1 Cyclin dependent kinases 496 1996-07-26 2009-12-16 2016-06-08 2023-01-20 5218 ENSG00000058091 OTTHUMG00000023649 uc003uky.4 NM_012395 "CCDS75628|CCDS75627|CCDS75626|CCDS5619" O94921 "9202329|11313143|19884882" MGI:894318 RGD:1305544 610679 objectId:1967 HGNC:8883 "ENST00000380050.8|NM_001287135.2" -HGNC:14434 CDK15 cyclin dependent kinase 15 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 PFTAIRE2 "ALS2CR7|PFTK2" "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7|PFTAIRE protein kinase 2" Cyclin dependent kinases 496 2001-01-26 2009-12-16 2016-06-08 2023-01-20 65061 ENSG00000138395 OTTHUMG00000132838 uc002uys.4 AB053308 NM_001261435 "CCDS58746|CCDS58747|CCDS92927|CCDS2350" Q96Q40 "11586298|16236519|19884882" MGI:3583944 RGD:1306205 616147 objectId:1968 HGNC:14434 "ENST00000652192.3|NM_001366386.2" -HGNC:8749 CDK16 cyclin dependent kinase 16 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "PCTAIRE|PCTAIRE1|PCTGAIRE|FLJ16665" serine/threonine-protein kinase PCTK1 PCTAIRE protein kinase 1 Cyclin dependent kinases 496 1994-02-14 2009-12-16 2016-06-08 2023-01-20 5127 ENSG00000102225 OTTHUMG00000021438 uc004dho.4 NM_006201 "CCDS55408|CCDS14276|CCDS48101" Q00536 "1437147|19884882" MGI:97516 RGD:620584 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCTK1 311550 objectId:1969 HGNC:8749 "ENST00000357227.9|NM_006201.5" HGNC:8749 -HGNC:8750 CDK17 cyclin dependent kinase 17 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 PCTAIRE2 PCTK2 PCTAIRE protein kinase 2 Cyclin dependent kinases 496 1994-04-18 2009-12-16 2016-06-08 2023-01-20 5128 ENSG00000059758 OTTHUMG00000170375 uc001tep.3 NM_002595 "CCDS9061|CCDS53819" Q00537 "9370357|19884882" MGI:97517 RGD:1565593 603440 objectId:1970 HGNC:8750 "ENST00000261211.8|NM_002595.5" -HGNC:8751 CDK18 cyclin dependent kinase 18 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 PCTAIRE3 PCTK3 PCTAIRE protein kinase 3 Cyclin dependent kinases 496 1994-02-14 2009-12-16 2016-06-08 2023-01-20 5129 ENSG00000117266 OTTHUMG00000037203 uc001hcr.4 X66362 NM_002596 "CCDS1454|CCDS44300" Q07002 "1437147|19884882" MGI:97518 RGD:1309523 169190 objectId:1971 HGNC:8751 "ENST00000429964.7|NM_212502.3" +HGNC:8883 CDK14 cyclin dependent kinase 14 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 PFTAIRE1 PFTK1 PFTAIRE protein kinase 1 Cyclin dependent kinases 496 1996-07-26 2009-12-16 2016-06-08 2023-01-20 5218 ENSG00000058091 OTTHUMG00000023649 uc003uky.4 NM_012395 "CCDS75628|CCDS75627|CCDS5619|CCDS75626" O94921 "9202329|11313143|19884882" MGI:894318 RGD:1305544 610679 objectId:1967 HGNC:8883 "ENST00000380050.8|NM_001287135.2" +HGNC:14434 CDK15 cyclin dependent kinase 15 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 PFTAIRE2 "ALS2CR7|PFTK2" "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7|PFTAIRE protein kinase 2" Cyclin dependent kinases 496 2001-01-26 2009-12-16 2016-06-08 2023-01-20 65061 ENSG00000138395 OTTHUMG00000132838 uc002uys.4 AB053308 NM_001261435 "CCDS58746|CCDS2350|CCDS58747|CCDS92927" Q96Q40 "11586298|16236519|19884882" MGI:3583944 RGD:1306205 616147 objectId:1968 HGNC:14434 "ENST00000652192.3|NM_001366386.2" +HGNC:8749 CDK16 cyclin dependent kinase 16 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "PCTAIRE|PCTAIRE1|PCTGAIRE|FLJ16665" serine/threonine-protein kinase PCTK1 PCTAIRE protein kinase 1 Cyclin dependent kinases 496 1994-02-14 2009-12-16 2016-06-08 2023-01-20 5127 ENSG00000102225 OTTHUMG00000021438 uc004dho.4 NM_006201 "CCDS55408|CCDS48101|CCDS14276" Q00536 "1437147|19884882" MGI:97516 RGD:620584 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCTK1 311550 objectId:1969 HGNC:8749 "ENST00000357227.9|NM_006201.5" HGNC:8749 +HGNC:8750 CDK17 cyclin dependent kinase 17 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 PCTAIRE2 PCTK2 PCTAIRE protein kinase 2 Cyclin dependent kinases 496 1994-04-18 2009-12-16 2016-06-08 2023-01-20 5128 ENSG00000059758 OTTHUMG00000170375 uc001tep.3 NM_002595 "CCDS53819|CCDS9061" Q00537 "9370357|19884882" MGI:97517 RGD:1565593 603440 objectId:1970 HGNC:8750 "ENST00000261211.8|NM_002595.5" +HGNC:8751 CDK18 cyclin dependent kinase 18 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 PCTAIRE3 PCTK3 PCTAIRE protein kinase 3 Cyclin dependent kinases 496 1994-02-14 2009-12-16 2016-06-08 2023-01-20 5129 ENSG00000117266 OTTHUMG00000037203 uc001hcr.4 X66362 NM_002596 "CCDS44300|CCDS1454" Q07002 "1437147|19884882" MGI:97518 RGD:1309523 169190 objectId:1971 HGNC:8751 "ENST00000429964.7|NM_212502.3" HGNC:19338 CDK19 cyclin dependent kinase 19 protein-coding gene gene with protein product Approved 6q21 06q21 "KIAA1028|bA346C16.3" "CDK11|CDC2L6" "cyclin-dependent kinase (CDC2-like) 11|cell division cycle 2-like 6 (CDK8-like)" "Cyclin dependent kinases|Mediator complex" "496|1061" 2003-04-15 2009-12-16 2016-06-08 2023-01-20 23097 ENSG00000155111 OTTHUMG00000015365 uc003puh.2 AL122055 NM_015076 "CCDS5085|CCDS75503" Q9BWU1 "10470851|19884882" MGI:1925584 RGD:1305435 614720 objectId:1972 HGNC:19338 "ENST00000368911.8|NM_015076.5" HGNC:19338 -HGNC:21420 CDK20 cyclin dependent kinase 20 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 "p42|PNQALRE" CCRK cell cycle related kinase Cyclin dependent kinases 496 2004-05-17 2009-12-16 2016-06-08 2023-01-20 23552 ENSG00000156345 OTTHUMG00000020161 uc004apt.4 AF035013 NM_012119 "CCDS35060|CCDS6678|CCDS6677|CCDS55324|CCDS65075" Q8IZL9 "19884882|16552187" MGI:2145349 RGD:1305219 610076 objectId:1974 HGNC:21420 "ENST00000325303.9|NM_001039803.3" HGNC:21420 +HGNC:21420 CDK20 cyclin dependent kinase 20 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 "p42|PNQALRE" CCRK cell cycle related kinase Cyclin dependent kinases 496 2004-05-17 2009-12-16 2016-06-08 2023-01-20 23552 ENSG00000156345 OTTHUMG00000020161 uc004apt.4 AF035013 NM_012119 "CCDS6678|CCDS65075|CCDS6677|CCDS55324|CCDS35060" Q8IZL9 "19884882|16552187" MGI:2145349 RGD:1305219 610076 objectId:1974 HGNC:21420 "ENST00000325303.9|NM_001039803.3" HGNC:21420 HGNC:21050 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 FLJ20342 CDK5 regulatory subunit associated protein 1-like 1 Radical S-adenosylmethionine domain containing 2036 2003-05-12 2016-01-28 2023-01-20 54901 ENSG00000145996 OTTHUMG00000014340 uc003ndd.3 AK000349 NM_017774 CCDS4546 Q5VV42 MGI:1921765 RGD:1310246 611259 HGNC:21050 "ENST00000274695.8|NM_017774.3" HGNC:1781 CDKL1 cyclin dependent kinase like 1 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 KKIALRE cyclin-dependent kinase-like 1 (CDC2-related kinase) Cyclin dependent kinases 496 1999-09-07 2016-01-07 2023-01-20 8814 ENSG00000100490 OTTHUMG00000140290 uc001wxz.5 AF390028 NM_001282236 "CCDS73637|CCDS9699" Q00532 "1639063|7595554" MGI:1918341 RGD:1305080 603441 objectId:1982 HGNC:1781 "ENST00000395834.6|NM_004196.7" HGNC:1782 CDKL2 cyclin dependent kinase like 2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "P56|KKIAMRE" cyclin-dependent kinase-like 2 (CDC2-related kinase) Cyclin dependent kinases 496 1999-09-07 2016-01-07 2023-01-20 8999 ENSG00000138769 OTTHUMG00000130103 uc003hiq.4 U35146 NM_003948 "CCDS82933|CCDS3570" Q92772 9000130 MGI:1858227 RGD:1309625 603442 objectId:1983 HGNC:1782 "ENST00000307465.9|NM_001330724.2" HGNC:15483 CDKL3 cyclin dependent kinase like 3 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 NKIAMRE serine-threonine protein kinase NKIAMRE cyclin-dependent kinase-like 3 Cyclin dependent kinases 496 2001-04-04 2016-01-07 2023-01-20 51265 ENSG00000006837 OTTHUMG00000186341 uc003kzf.5 AF130372 NM_001113575 "CCDS75303|CCDS47265|CCDS47264" Q8IVW4 10463609 MGI:2388268 RGD:619874 LRG_1006|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1006.xml 608459 objectId:1984 2.7.11.22 HGNC:15483 "ENST00000265334.9|NM_001113575.2" HGNC:19287 CDKL4 cyclin dependent kinase like 4 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 cyclin-dependent kinase-like 4 Cyclin dependent kinases 496 2004-05-24 2016-01-07 2023-01-20 344387 ENSG00000205111 OTTHUMG00000133574 uc002rrm.3 NM_001346911 "CCDS86834|CCDS33184|CCDS92740" Q5MAI5 MGI:3587025 RGD:1583704 objectId:1985 HGNC:19287 -HGNC:11411 CDKL5 cyclin dependent kinase like 5 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "EIEE2|CFAP247" STK9 "serine/threonine kinase 9|cyclin-dependent kinase-like 5" "Cyclin dependent kinases|Cilia and flagella associated" "496|1491" 1997-10-27 2002-11-29 2016-01-07 2023-01-20 6792 ENSG00000008086 OTTHUMG00000021214 uc004cyn.4 Y15057 NM_003159 "CCDS83458|CCDS14186" O76039 "9721213|16935860" MGI:1278336 RGD:2324133 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CDKL5 300203 119297 objectId:1986 HGNC:11411 "ENST00000623535.2|NM_001323289.2" HGNC:11411 +HGNC:11411 CDKL5 cyclin dependent kinase like 5 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "EIEE2|CFAP247" STK9 "serine/threonine kinase 9|cyclin-dependent kinase-like 5" "Cyclin dependent kinases|Cilia and flagella associated" "496|1491" 1997-10-27 2002-11-29 2016-01-07 2023-01-20 6792 ENSG00000008086 OTTHUMG00000021214 uc004cyn.4 Y15057 NM_003159 "CCDS14186|CCDS83458" O76039 "9721213|16935860" MGI:1278336 RGD:2324133 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CDKL5 300203 119297 objectId:1986 HGNC:11411 "ENST00000623535.2|NM_001323289.2" HGNC:11411 HGNC:1784 CDKN1A cyclin dependent kinase inhibitor 1A protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "P21|CIP1|WAF1|SDI1|CAP20|p21CIP1|p21Cip1/Waf1|p21" CDKN1 cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1994-05-24 2016-06-08 2023-01-20 1026 ENSG00000124762 OTTHUMG00000014603 uc021yzc.2 U03106 NM_078467 CCDS4824 P38936 MGI:104556 RGD:69328 116899 293293 HGNC:1784 "ENST00000244741.10|NM_000389.5" HGNC:42399 CDKN1A-AS1 CDKN1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 p21NAT CDKN1A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-11 2012-08-15 2012-10-12 100861512 BX332409 19008947 HGNC:1785 CDKN1B cyclin dependent kinase inhibitor 1B protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "KIP1|P27KIP1" cyclin-dependent kinase inhibitor 1B (p27, Kip1) 1995-09-14 2016-06-08 2023-01-20 1027 ENSG00000111276 OTTHUMG00000149914 uc001rat.3 AF480891 NM_004064 CCDS8653 P46527 8033212 MGI:104565 RGD:69062 CDKN1B 600778 200995 HGNC:1785 "ENST00000228872.9|NM_004064.5" HGNC:1785 -HGNC:1786 CDKN1C cyclin dependent kinase inhibitor 1C protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "P57|KIP2" "BWCR|BWS" "Beckwith-Wiedemann syndrome|cyclin-dependent kinase inhibitor 1C (p57, Kip2)" 1995-09-14 2016-06-08 2023-01-20 1028 ENSG00000129757 OTTHUMG00000010040 uc001lws.5 D64137 NM_000076 "CCDS7738|CCDS44519|CCDS86169" P49918 7729684 MGI:104564 RGD:727892 LRG_533|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_533.xml 600856 119300 HGNC:1786 "ENST00000440480.8|NM_001122630.2" HGNC:1786 +HGNC:1786 CDKN1C cyclin dependent kinase inhibitor 1C protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "P57|KIP2" "BWCR|BWS" "Beckwith-Wiedemann syndrome|cyclin-dependent kinase inhibitor 1C (p57, Kip2)" 1995-09-14 2016-06-08 2023-01-20 1028 ENSG00000129757 OTTHUMG00000010040 uc001lws.5 D64137 NM_000076 "CCDS86169|CCDS7738|CCDS44519" P49918 7729684 MGI:104564 RGD:727892 LRG_533|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_533.xml 600856 119300 HGNC:1786 "ENST00000440480.8|NM_001122630.2" HGNC:1786 HGNC:1787 CDKN2A cyclin dependent kinase inhibitor 2A protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "CDK4I|p16|INK4a|MTS1|CMM2|ARF|p19|p14|INK4|p16INK4a|p19Arf|p14ARF|P16-INK4A" "CDKN2|MLM" cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) 1994-05-19 2016-06-08 2023-03-15 1029 ENSG00000147889 OTTHUMG00000019686 uc003zpk.4 L27211 NM_000077 "CCDS6511|CCDS56565|CCDS6510|CCDS87644" "P42771|Q8N726" "8152487|7606716" MGI:104738 RGD:2323 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CDKN2A|LRG_11|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_11.xml" CDKN2A 600160 119306 HGNC:1787 "ENST00000304494.10|NM_000077.5" HGNC:1787 HGNC:23831 CDKN2A-DT CDKN2A divergent transcript non-coding RNA RNA, long non-coding Approved 9p21.3 09p21.3 bA149I2.3 "C9orf53|CDKN2A-AS1" "chromosome 9 open reading frame 53|CDKN2A antisense RNA 1 (head to head)" Divergent transcripts 1990 2004-07-23 2018-03-22 2018-03-22 2018-03-22 51198 ENSG00000224854 OTTHUMG00000019687 AF211119 NR_024274 Q9UH64 CDKN2A-AS1 HGNC:23831 HGNC:24325 CDKN2AIP CDKN2A interacting protein protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "FLJ20036|CARF" collaborates/cooperates with ARF (alternate reading frame) protein 2006-11-17 2023-01-20 55602 ENSG00000168564 OTTHUMG00000160626 uc003ivp.2 AK000043 NM_017632 "CCDS82979|CCDS34110" Q9NXV6 "12154087|16803988" MGI:1918175 RGD:1305302 615914 HGNC:24325 "ENST00000504169.2|NM_017632.4" @@ -4156,7 +4156,7 @@ HGNC:1788 CDKN2B cyclin dependent kinase inhibitor 2B protein-coding gene gene w HGNC:34341 CDKN2B-AS1 CDKN2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p21.3 09p21.3 "ANRIL|RP11-145E5.4|NCRNA00089|p15AS|CDKN2B-AS|PCAT12" "antisense RNA in the INK4 locus|non-protein coding RNA 89|p15 antisense RNA|CDKN2B antisense RNA (non-protein coding)|prostate cancer associated transcript 12" CDKN2BAS CDKN2B antisense RNA (non-protein coding) Antisense RNAs 1987 2008-11-25 2012-01-25 2012-08-15 2017-03-10 100048912 ENSG00000240498 OTTHUMG00000019689 uc010miz.4 BC038540 NR_003529 "18048406|17440112|21532571|23416462" 613149 ANRIL CDKN2B-AS1 HGNC:34341 HGNC:1789 CDKN2C cyclin dependent kinase inhibitor 2C protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "INK4C|p18" cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) Ankyrin repeat domain containing 403 1995-07-06 2016-06-08 2023-01-20 1031 ENSG00000123080 OTTHUMG00000008046 uc057gkh.1 BC000598 NM_001262 CCDS555 P42773 "8001816|9636670" MGI:105388 RGD:2325 CDKN2C 603369 293311 HGNC:1789 "ENST00000371761.4|NM_078626.3" HGNC:1790 CDKN2D cyclin dependent kinase inhibitor 2D protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "INK4D|p19" cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) Ankyrin repeat domain containing 403 1995-07-06 2016-06-08 2023-01-20 1032 ENSG00000129355 OTTHUMG00000180583 uc002mpa.4 NM_079421 CCDS12244 P55273 8575754 MGI:105387 RGD:1593190 600927 328932 HGNC:1790 "ENST00000393599.3|NM_001800.4" -HGNC:1791 CDKN3 cyclin dependent kinase inhibitor 3 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "KAP|CDI1" "kinase associated phosphatase|cyclin-dependent kinase inhibitor|CDK2-associated dual specificity phosphatase" CDC14 phosphatases 900 1994-07-04 2016-06-08 2023-01-20 1033 ENSG00000100526 OTTHUMG00000140302 uc001xap.4 U02681 NM_001130851 "CCDS45109|CCDS81804|CCDS9716" Q16667 "8242750|7698009" MGI:1919641 RGD:1307781 123832 HGNC:1791 "ENST00000335183.11|NM_005192.4" +HGNC:1791 CDKN3 cyclin dependent kinase inhibitor 3 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "KAP|CDI1" "kinase associated phosphatase|cyclin-dependent kinase inhibitor|CDK2-associated dual specificity phosphatase" CDC14 phosphatases 900 1994-07-04 2016-06-08 2023-01-20 1033 ENSG00000100526 OTTHUMG00000140302 uc001xap.4 U02681 NM_001130851 "CCDS45109|CCDS9716|CCDS81804" Q16667 "8242750|7698009" MGI:1919641 RGD:1307781 123832 HGNC:1791 "ENST00000335183.11|NM_005192.4" HGNC:24913 CDNF cerebral dopamine neurotrophic factor protein-coding gene gene with protein product Approved 10p13 10p13 conserved dopamine neurotrophic factor ARMETL1 arginine-rich, mutated in early stage tumors-like 1 2004-05-27 2009-06-04 2009-06-04 2023-01-20 441549 ENSG00000185267 OTTHUMG00000017713 uc001inb.3 BC037872 NM_001029954 CCDS31148 Q49AH0 17611540 MGI:3606576 RGD:1307600 611233 HGNC:24913 "ENST00000465530.2|NM_001029954.3" HGNC:1795 CDO1 cysteine dioxygenase type 1 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 cysteine dioxygenase, type I 1996-09-13 2013-06-11 2023-01-20 1036 ENSG00000129596 OTTHUMG00000128891 uc003krg.4 NM_001801 CCDS4121 Q16878 7524679 MGI:105925 RGD:69262 603943 1.13.11.20 HGNC:1795 "ENST00000250535.5|NM_001801.3" HGNC:17104 CDON cell adhesion associated, oncogene regulated protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "ORCAM|CDO|CDON1|Ihog" cell adhesion molecule-related/down-regulated by oncogenes Cdon homolog (mouse) "Fibronectin type III domain containing|I-set domain containing" "555|593" 2001-11-02 2012-12-07 2023-01-20 50937 ENSG00000064309 OTTHUMG00000165862 uc001qdc.5 AF004841 NM_016952 "CCDS58192|CCDS8468" Q4KMG0 9214393 MGI:1926387 RGD:708433 608707 279776 HGNC:17104 "ENST00000531738.6|NM_001378964.1" HGNC:17104 @@ -4196,7 +4196,7 @@ HGNC:1800 CDS1 CDP-diacylglycerol synthase 1 protein-coding gene gene with prote HGNC:1801 CDS2 CDP-diacylglycerol synthase 2 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 phosphatidate cytidylyltransferase 2 1998-12-21 2015-11-13 2023-01-20 8760 ENSG00000101290 OTTHUMG00000031801 uc002wls.4 AF069532 NM_003818 CCDS13088 O95674 "9806839|9889000" MGI:1332236 RGD:621186 603549 2.7.7.41 HGNC:1801 "ENST00000460006.6|NM_003818.4" HGNC:1802 CDSN corneodesmosin protein-coding gene gene with protein product Approved 6p21.33 06p21.33 D6S586E 1998-05-14 2023-01-20 1041 ENSG00000204539 OTTHUMG00000031150 uc011fbm.3 AF030130 NM_001264 CCDS34389 Q15517 "9395522|8415725" MGI:3505689 RGD:1598543 602593 119324 HGNC:1802 "ENST00000376288.3|NM_001264.5" HGNC:1802 HGNC:24576 CDT1 chromatin licensing and DNA replication factor 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "DUP|RIS2" 2006-05-25 2023-01-20 81620 ENSG00000167513 OTTHUMG00000173467 uc002flu.4 AF070552 NM_030928 CCDS32510 Q9H211 "11896191|11555648" MGI:1914427 RGD:1309211 605525 260341 HGNC:24576 "ENST00000301019.9|NM_030928.4" HGNC:24576 -HGNC:26928 CDV3 CDV3 homolog protein-coding gene gene with protein product Approved 3q22.1 03q22.1 H41 carnitine deficiency-associated gene expressed in ventricle 3 (mouse) CDV3 homolog (mouse) 2006-01-09 2016-04-27 2023-01-20 55573 ENSG00000091527 OTTHUMG00000159764 uc003epq.4 AK096865 NM_017548 "CCDS75015|CCDS3079|CCDS93387|CCDS46917|CCDS46918|CCDS75013|CCDS75014" Q9UKY7 10497265 MGI:2448759 RGD:1359113 618789 HGNC:26928 "ENST00000264993.8|NM_017548.5" +HGNC:26928 CDV3 CDV3 homolog protein-coding gene gene with protein product Approved 3q22.1 03q22.1 H41 carnitine deficiency-associated gene expressed in ventricle 3 (mouse) CDV3 homolog (mouse) 2006-01-09 2016-04-27 2023-01-20 55573 ENSG00000091527 OTTHUMG00000159764 uc003epq.4 AK096865 NM_017548 "CCDS93387|CCDS75013|CCDS46918|CCDS46917|CCDS3079|CCDS75014|CCDS75015" Q9UKY7 10497265 MGI:2448759 RGD:1359113 618789 HGNC:26928 "ENST00000264993.8|NM_017548.5" HGNC:42387 CDV3P1 CDV3 pseudogene 1 pseudogene pseudogene Approved 3q11.2 03q11.2 CDV3 homolog (mouse) pseudogene 1 2011-07-05 2014-07-02 2014-11-19 100129736 ENSG00000176243 OTTHUMG00000159188 NG_022257 PGOHUM00000238102 HGNC:42387 HGNC:1805 CDX1 caudal type homeobox 1 protein-coding gene gene with protein product Approved 5q32 05q32 caudal type homeo box transcription factor 1 HOXL subclass homeoboxes 518 1995-05-05 2007-07-09 2023-01-20 1044 ENSG00000113722 OTTHUMG00000169772 uc003lrq.4 U51095 NM_001804 CCDS4304 P47902 8530027 MGI:88360 RGD:621233 600746 8422 HGNC:1805 "ENST00000231656.13|NM_001804.3" HGNC:1806 CDX2 caudal type homeobox 2 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 CDX3 caudal type homeo box transcription factor 2 HOXL subclass homeoboxes 518 1994-09-07 2007-07-09 2023-01-20 1045 ENSG00000165556 OTTHUMG00000016640 uc001urv.5 Y13709 NM_001265 CCDS9328 Q99626 7698771 MGI:88361 RGD:621234 CDX2 600297 8423 HGNC:1806 "ENST00000381020.8|NM_001265.6" @@ -4226,23 +4226,23 @@ HGNC:23864 CDY20P chromodomain Y-linked 20 pseudogene pseudogene pseudogene Appr HGNC:23865 CDY21P chromodomain Y-linked 21 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-10-05 386743 NG_003151 12815422 HGNC:23865 HGNC:23866 CDY22P chromodomain Y-linked 22 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-10-05 386744 ENSG00000229343 OTTHUMG00000045287 NG_003152 12815422 PGOHUM00000234090 HGNC:23866 HGNC:23867 CDY23P chromodomain Y-linked 23 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-07-14 386745 ENSG00000231716 OTTHUMG00000045273 NG_003153 12815422 PGOHUM00000233881 HGNC:23867 -HGNC:1811 CDYL chromodomain Y like protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "DKFZP586C1622|CDYL1" "CDY-like, autosomal|testis-specific chromodomain Y-like protein" "chromodomain protein, Y chromosome-like|chromodomain protein, Y-like" 1999-04-07 2017-02-21 2023-03-15 9425 ENSG00000153046 OTTHUMG00000014170 uc003mwj.4 AF081258 NM_004824 "CCDS4491|CCDS93853|CCDS47364" Q9Y232 10192397 MGI:1339956 RGD:1549745 603778 HGNC:1811 "ENST00000397588.8|NM_004824.4" +HGNC:1811 CDYL chromodomain Y like protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "DKFZP586C1622|CDYL1" "CDY-like, autosomal|testis-specific chromodomain Y-like protein" "chromodomain protein, Y chromosome-like|chromodomain protein, Y-like" 1999-04-07 2017-02-21 2023-03-15 9425 ENSG00000153046 OTTHUMG00000014170 uc003mwj.4 AF081258 NM_004824 "CCDS47364|CCDS93853|CCDS4491" Q9Y232 10192397 MGI:1339956 RGD:1549745 603778 HGNC:1811 "ENST00000397588.8|NM_004824.4" HGNC:40142 CDYL-AS1 CDYL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.1 06p25.1 Antisense RNAs 1987 2019-07-24 2019-07-24 101927913 ENSG00000236336 OTTHUMG00000156967 NR_183279 HGNC:40142 HGNC:23030 CDYL2 chromodomain Y like 2 protein-coding gene gene with protein product Approved 16q23.2 16q23.2 FLJ38866 chromodomain Y-like protein 2 2003-08-26 2017-02-21 2023-01-20 124359 ENSG00000166446 OTTHUMG00000177004 uc002ffs.4 AK096185 NM_152342 CCDS32493 Q8N8U2 12837688 MGI:1923046 RGD:1309548 618816 HGNC:23030 "ENST00000570137.7|NM_152342.4" HGNC:52805 CDYLP1 CDYL pseudogene 1 pseudogene pseudogene Approved 3p24.3 03p24.3 chromodomain Y-like pseudogene 1 2016-12-12 2019-02-19 2019-02-19 100132260 ENSG00000224039 OTTHUMG00000155460 NG_022196 PGOHUM00000298961 HGNC:52805 -HGNC:1814 CEACAM1 CEA cell adhesion molecule 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "BGP1|CD66a" BGP "carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)|carcinoembryonic antigen related cell adhesion molecule 1" "CD molecules|V-set domain containing|CEA cell adhesion molecule family" "471|590|906" 1989-06-30 2019-08-22 2023-01-20 634 ENSG00000079385 OTTHUMG00000151078 uc002otv.3 M72238 NM_001712 "CCDS54274|CCDS54272|CCDS12609|CCDS46089|CCDS54273" P13688 "2457922|2025273" "MGI:1347245|MGI:1347246" RGD:67396 109770 CD66a HGNC:1814 "ENST00000161559.11|NM_001712.5" -HGNC:1815 CEACAM3 CEA cell adhesion molecule 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD66d CGM1 "carcinoembryonic antigen-related cell adhesion molecule 3|carcinoembryonic antigen related cell adhesion molecule 3" "CD molecules|V-set domain containing|CEA cell adhesion molecule family" "471|590|906" 1991-09-12 2019-08-22 2023-01-20 1084 ENSG00000170956 OTTHUMG00000150142 uc032hyd.2 E03349 NM_001815 "CCDS62685|CCDS12586" P40198 609142 CD66d HGNC:1815 "ENST00000357396.8|NM_001815.5" +HGNC:1814 CEACAM1 CEA cell adhesion molecule 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "BGP1|CD66a" BGP "carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)|carcinoembryonic antigen related cell adhesion molecule 1" "CD molecules|V-set domain containing|CEA cell adhesion molecule family" "471|590|906" 1989-06-30 2019-08-22 2023-01-20 634 ENSG00000079385 OTTHUMG00000151078 uc002otv.3 M72238 NM_001712 "CCDS12609|CCDS54273|CCDS54272|CCDS46089|CCDS54274" P13688 "2457922|2025273" "MGI:1347245|MGI:1347246" RGD:67396 109770 CD66a HGNC:1814 "ENST00000161559.11|NM_001712.5" +HGNC:1815 CEACAM3 CEA cell adhesion molecule 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD66d CGM1 "carcinoembryonic antigen-related cell adhesion molecule 3|carcinoembryonic antigen related cell adhesion molecule 3" "CD molecules|V-set domain containing|CEA cell adhesion molecule family" "471|590|906" 1991-09-12 2019-08-22 2023-01-20 1084 ENSG00000170956 OTTHUMG00000150142 uc032hyd.2 E03349 NM_001815 "CCDS12586|CCDS62685" P40198 609142 CD66d HGNC:1815 "ENST00000357396.8|NM_001815.5" HGNC:1816 CEACAM4 CEA cell adhesion molecule 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CGM7 "carcinoembryonic antigen-related cell adhesion molecule 4|carcinoembryonic antigen related cell adhesion molecule 4" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 1991-09-12 2019-08-22 2023-01-20 1089 ENSG00000105352 OTTHUMG00000151065 uc002orh.1 D90276 NM_001817 CCDS33033 O75871 2050678 "MGI:1891352|MGI:1891353|MGI:1891354|MGI:1891359|MGI:1891361|MGI:1914565" RGD:708435 619159 HGNC:1816 "ENST00000221954.7|NM_001817.4" -HGNC:1817 CEACAM5 CEA cell adhesion molecule 5 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD66e CEA "carcinoembryonic antigen-related cell adhesion molecule 5|carcinoembryonic antigen related cell adhesion molecule 5" "CD molecules|V-set domain containing|I-set domain containing|CEA cell adhesion molecule family" "471|590|593|906" 1986-01-01 2019-08-22 2023-01-20 1048 ENSG00000105388 OTTHUMG00000151061 uc002orl.4 M17303 NM_004363 "CCDS12584|CCDS77302" P06731 "MGI:1347245|MGI:1347246" 114890 objectId:2836 CD66e HGNC:1817 "ENST00000221992.11|NM_004363.6" +HGNC:1817 CEACAM5 CEA cell adhesion molecule 5 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD66e CEA "carcinoembryonic antigen-related cell adhesion molecule 5|carcinoembryonic antigen related cell adhesion molecule 5" "CD molecules|V-set domain containing|I-set domain containing|CEA cell adhesion molecule family" "471|590|593|906" 1986-01-01 2019-08-22 2023-01-20 1048 ENSG00000105388 OTTHUMG00000151061 uc002orl.4 M17303 NM_004363 "CCDS77302|CCDS12584" P06731 "MGI:1347245|MGI:1347246" 114890 objectId:2836 CD66e HGNC:1817 "ENST00000221992.11|NM_004363.6" HGNC:1818 CEACAM6 CEA cell adhesion molecule 6 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD66c NCA "carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)|carcinoembryonic antigen related cell adhesion molecule 6" "CD molecules|V-set domain containing|CEA cell adhesion molecule family" "471|590|906" 1989-06-30 2019-08-22 2023-01-20 4680 ENSG00000086548 OTTHUMG00000151064 uc032hyc.2 M29541 NM_002483 CCDS12585 P40199 "MGI:1347245|MGI:1347246" RGD:1642421 163980 CD66c HGNC:1818 "ENST00000199764.7|NM_002483.7" HGNC:1819 CEACAM7 CEA cell adhesion molecule 7 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CEA carcinoembryonic antigen gene family member 2 CGM2 "carcinoembryonic antigen-related cell adhesion molecule 7|carcinoembryonic antigen related cell adhesion molecule 7" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 1991-09-12 2019-08-22 2023-01-20 1087 ENSG00000007306 OTTHUMG00000151063 uc002ori.2 X98311 NM_006890 CCDS12583 Q14002 "7806520|9135022" "MGI:1347250|MGI:1347252|MGI:1891352|MGI:1891353|MGI:1891355|MGI:1891357|MGI:1891358|MGI:1891359|MGI:1891360|MGI:1891361|MGI:1914246|MGI:1917035|MGI:1920500|MGI:3646296|MGI:3647191" 619160 HGNC:1819 "ENST00000401731.6|NM_001291485.2" HGNC:1820 CEACAM8 CEA cell adhesion molecule 8 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD66b CGM6 "carcinoembryonic antigen-related cell adhesion molecule 8|carcinoembryonic antigen related cell adhesion molecule 8" "CD molecules|V-set domain containing|CEA cell adhesion molecule family" "471|590|906" 1991-09-12 2019-08-22 2023-01-20 1088 ENSG00000124469 OTTHUMG00000151124 uc002oud.3 D90064 NM_001816 CCDS12610 P31997 "2208113|2306228" MGI:1891352 615747 CD66b HGNC:1820 "ENST00000244336.10|NM_001816.4" HGNC:31948 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component protein-coding gene gene with protein product Approved 19q13.31-q13.32 19q13.31-q13.32 DFNA4B "carcinoembryonic antigen-related cell adhesion molecule 16|carcinoembryonic antigen related cell adhesion molecule 16" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 2005-07-25 2019-08-22 2023-01-20 388551 ENSG00000213892 OTTHUMG00000151519 uc060zsz.1 NM_001039213 CCDS54278 Q2WEN9 21368133 MGI:2685615 RGD:1306386 LRG_1283|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1283.xml 614591 265505 HGNC:31948 "ENST00000587331.7|NM_001039213.4" HGNC:31948 HGNC:55317 CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.31 19q13.31 Antisense RNAs 1987 2020-10-19 2020-10-19 107985305 ENSG00000266903 HGNC:31949 CEACAM18 CEA cell adhesion molecule 18 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "carcinoembryonic antigen-related cell adhesion molecule 18|carcinoembryonic antigen related cell adhesion molecule 18" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 2005-07-25 2019-08-22 2023-03-15 729767 ENSG00000213822 OTTHUMG00000151557 uc061bxs.1 NM_001405061 A8MTB9 MGI:1919681 RGD:1563539 HGNC:31949 -HGNC:31951 CEACAM19 CEA cell adhesion molecule 19 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 CEAL1 "carcinoembryonic antigen-related cell adhesion molecule 19|carcinoembryonic antigen related cell adhesion molecule 19" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 2005-07-25 2019-08-22 2023-01-20 56971 ENSG00000186567 OTTHUMG00000151528 uc002ozo.5 AF406955 NM_020219 "CCDS12641|CCDS46108" Q7Z692 MGI:2443001 RGD:1589436 606691 HGNC:31951 "ENST00000358777.10|NM_001127893.3" -HGNC:24879 CEACAM20 CEA cell adhesion molecule 20 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 UNQ9366 "carcinoembryonic antigen-related cell adhesion molecule 20|carcinoembryonic antigen related cell adhesion molecule 20" "I-set domain containing|CEA cell adhesion molecule family" "593|906" 2005-07-25 2019-08-22 2023-01-20 125931 ENSG00000273777 OTTHUMG00000151532 uc032hzq.1 AY358129 NM_198444 "CCDS74390|CCDS74392|CCDS74393|CCDS74391" Q6UY09 12975309 MGI:1918851 RGD:1311281 HGNC:24879 "ENST00000614924.5|NM_001102597.3" -HGNC:28834 CEACAM21 CEA cell adhesion molecule 21 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "R29124_1|FLJ13540" "carcinoembryonic antigen-related cell adhesion molecule 21|carcinoembryonic antigen related cell adhesion molecule 21" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 2005-07-25 2019-08-22 2023-01-20 90273 ENSG00000007129 OTTHUMG00000151062 uc002ore.5 AK023602 NM_033543 "CCDS46087|CCDS74373|CCDS46086" Q3KPI0 12477932 "MGI:1347247|MGI:2141810" RGD:70954 618191 HGNC:28834 "ENST00000401445.4|NM_001098506.4" +HGNC:31951 CEACAM19 CEA cell adhesion molecule 19 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 CEAL1 "carcinoembryonic antigen-related cell adhesion molecule 19|carcinoembryonic antigen related cell adhesion molecule 19" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 2005-07-25 2019-08-22 2023-01-20 56971 ENSG00000186567 OTTHUMG00000151528 uc002ozo.5 AF406955 NM_020219 "CCDS46108|CCDS12641" Q7Z692 MGI:2443001 RGD:1589436 606691 HGNC:31951 "ENST00000358777.10|NM_001127893.3" +HGNC:24879 CEACAM20 CEA cell adhesion molecule 20 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 UNQ9366 "carcinoembryonic antigen-related cell adhesion molecule 20|carcinoembryonic antigen related cell adhesion molecule 20" "I-set domain containing|CEA cell adhesion molecule family" "593|906" 2005-07-25 2019-08-22 2023-01-20 125931 ENSG00000273777 OTTHUMG00000151532 uc032hzq.1 AY358129 NM_198444 "CCDS74390|CCDS74392|CCDS74391|CCDS74393" Q6UY09 12975309 MGI:1918851 RGD:1311281 HGNC:24879 "ENST00000614924.5|NM_001102597.3" +HGNC:28834 CEACAM21 CEA cell adhesion molecule 21 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "R29124_1|FLJ13540" "carcinoembryonic antigen-related cell adhesion molecule 21|carcinoembryonic antigen related cell adhesion molecule 21" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 2005-07-25 2019-08-22 2023-01-20 90273 ENSG00000007129 OTTHUMG00000151062 uc002ore.5 AK023602 NM_033543 "CCDS46086|CCDS74373|CCDS46087" Q3KPI0 12477932 "MGI:1347247|MGI:2141810" RGD:70954 618191 HGNC:28834 "ENST00000401445.4|NM_001098506.4" HGNC:38029 CEACAM22P CEA cell adhesion molecule 22, pseudogene pseudogene pseudogene Approved 19q13.31 19q13.31 "carcinoembryonic antigen-related cell adhesion molecule 22, pseudogene|carcinoembryonic antigen related cell adhesion molecule 22, pseudogene" CEA cell adhesion molecule family 906 2010-03-23 2019-08-22 2019-08-22 388550 ENSG00000230666 OTTHUMG00000151530 NR_027754 20132533 PGOHUM00000250581 HGNC:38029 HGNC:1821 CEACAMP1 CEA cell adhesion molecule pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 CGM8 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 1|carcinoembryonic antigen related cell adhesion molecule pseudogene 1" CEA cell adhesion molecule family 906 1991-09-12 2010-03-23 2019-08-22 2019-08-22 1090 ENSG00000233681 OTTHUMG00000151128 M96921 NG_001096 1572649 HGNC:1821 HGNC:1824 CEACAMP2 CEA cell adhesion molecule pseudogene 2 pseudogene pseudogene Approved 19q13.2 19q13.2 CGM9 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 2|carcinoembryonic antigen related cell adhesion molecule pseudogene 2" CEA cell adhesion molecule family 906 1991-09-12 2010-03-23 2019-08-22 2019-08-22 1091 ENSG00000230558 OTTHUMG00000151119 M96922 NG_001097 1427854 PGOHUM00000234329 HGNC:1824 @@ -4276,22 +4276,22 @@ HGNC:24609 CELA2A chymotrypsin like elastase 2A protein-coding gene gene with pr HGNC:29995 CELA2B chymotrypsin like elastase 2B protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "RP11-265F14.2|ELA2B" pancreatic elastase IIB chymotrypsin-like elastase family, member 2B Chymotrypsin like elastases 1837 2009-05-05 2019-03-08 2023-01-20 51032 ENSG00000215704 OTTHUMG00000002259 uc001awl.3 NM_015849 CCDS30605 P08218 "3646943|16327289" MGI:95316 609444 S01.206 HGNC:29995 "ENST00000375910.8|NM_015849.3" HGNC:15944 CELA3A chymotrypsin like elastase 3A protein-coding gene gene with protein product Approved 1p36.12 01p36.12 ELA3 protease E ELA3A "elastase 3A, pancreatic (protease E)|elastase 3A, pancreatic|chymotrypsin-like elastase family, member 3A" Chymotrypsin like elastases 1837 2001-07-18 2009-05-05 2019-03-08 2023-01-20 10136 ENSG00000142789 OTTHUMG00000002755 uc001bfl.4 D00306 NM_005747 CCDS220 P09093 "2826474|2460440" "MGI:1915118|MGI:3651647" 618693 S01.154 HGNC:15944 "ENST00000290122.8|NM_005747.5" HGNC:15945 CELA3B chymotrypsin like elastase 3B protein-coding gene gene with protein product Approved 1p36.12 01p36.12 CBPP "proteinase E|elastase 1|cholesterol-binding pancreatic protease|pancreatic endopeptidase E" ELA3B "elastase 3B, pancreatic|chymotrypsin-like elastase family, member 3B" Chymotrypsin like elastases 1837 2001-07-18 2009-05-05 2019-03-08 2023-01-20 23436 ENSG00000219073 OTTHUMG00000002758 uc001bfk.4 M18692 NM_007352 CCDS219 P08861 "2826474|2460440" "MGI:1915118|MGI:3651647" RGD:1307819 618694 S01.205 3.4.21.70 HGNC:15945 "ENST00000337107.11|NM_007352.4" -HGNC:2549 CELF1 CUGBP Elav-like family member 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "CUG-BP|hNab50|BRUNOL2|NAB50|CUGBP|NAPOR|EDEN-BP" "CUG RNA-binding protein|nuclear polyadenylated RNA-binding protein, 50-kD|bruno-like 2|embryo deadenylation element binding protein" CUGBP1 "CUG triplet repeat, RNA-binding protein 1|CUG triplet repeat, RNA binding protein 1|CUGBP, Elav-like family member 1" RNA binding motif containing 725 1998-09-25 2010-02-19 2017-01-20 2023-01-20 10658 ENSG00000149187 OTTHUMG00000166526 uc001nfl.4 U63289 NM_006560 "CCDS81565|CCDS31482|CCDS7939|CCDS7938|CCDS53622|CCDS53623" Q92879 "8948631|9371827" MGI:1342295 RGD:1307721 601074 HGNC:2549 "ENST00000687097.1|NM_001376376.1" -HGNC:2550 CELF2 CUGBP Elav-like family member 2 protein-coding gene gene with protein product Approved 10p14 10p14 "Etr-3|NAPOR-2|BRUNOL3" CUGBP2 "CUG triplet repeat, RNA-binding protein 2|CUG triplet repeat, RNA binding protein 2|CUGBP, Elav-like family member 2" RNA binding motif containing 725 1999-12-02 2010-02-19 2017-01-20 2023-01-20 10659 ENSG00000048740 OTTHUMG00000017668 uc284mvf.1 U69546 NM_001025076 "CCDS86072|CCDS44355|CCDS86071|CCDS44356|CCDS86070|CCDS41488|CCDS86069|CCDS44354" O95319 "7869393|9887331" MGI:1338822 RGD:68347 602538 HGNC:2550 "ENST00000633077.2|NM_001326342.2" HGNC:2550 +HGNC:2549 CELF1 CUGBP Elav-like family member 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "CUG-BP|hNab50|BRUNOL2|NAB50|CUGBP|NAPOR|EDEN-BP" "CUG RNA-binding protein|nuclear polyadenylated RNA-binding protein, 50-kD|bruno-like 2|embryo deadenylation element binding protein" CUGBP1 "CUG triplet repeat, RNA-binding protein 1|CUG triplet repeat, RNA binding protein 1|CUGBP, Elav-like family member 1" RNA binding motif containing 725 1998-09-25 2010-02-19 2017-01-20 2023-01-20 10658 ENSG00000149187 OTTHUMG00000166526 uc001nfl.4 U63289 NM_006560 "CCDS31482|CCDS53622|CCDS7938|CCDS53623|CCDS81565|CCDS7939" Q92879 "8948631|9371827" MGI:1342295 RGD:1307721 601074 HGNC:2549 "ENST00000687097.1|NM_001376376.1" +HGNC:2550 CELF2 CUGBP Elav-like family member 2 protein-coding gene gene with protein product Approved 10p14 10p14 "Etr-3|NAPOR-2|BRUNOL3" CUGBP2 "CUG triplet repeat, RNA-binding protein 2|CUG triplet repeat, RNA binding protein 2|CUGBP, Elav-like family member 2" RNA binding motif containing 725 1999-12-02 2010-02-19 2017-01-20 2023-01-20 10659 ENSG00000048740 OTTHUMG00000017668 uc284mvf.1 U69546 NM_001025076 "CCDS44354|CCDS86070|CCDS44355|CCDS86072|CCDS86069|CCDS44356|CCDS41488|CCDS86071" O95319 "7869393|9887331" MGI:1338822 RGD:68347 602538 HGNC:2550 "ENST00000633077.2|NM_001326342.2" HGNC:2550 HGNC:23515 CELF2-AS1 CELF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 "FLJ40494|Em:AC026887.2" C10orf31 "chromosome 10 open reading frame 31|CELF2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2012-07-12 2012-08-15 2014-11-19 414196 ENSG00000181800 OTTHUMG00000017669 uc057rqz.1 AK097813 XR_109007 Q8N7Q2 CELF2-AS1 HGNC:23515 HGNC:44703 CELF2-AS2 CELF2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Antisense RNAs 1987 2012-12-05 2012-12-05 439950 ENSG00000237986 OTTHUMG00000017665 uc057rqs.2 NR_046108 CELF2-AS2 HGNC:44703 HGNC:54157 CELF2-DT CELF2 divergent transript non-coding RNA RNA, long non-coding Approved 10p14 10p14 Divergent transcripts 1990 2018-12-10 2018-12-10 101928322 ENSG00000270111 NR_120637 HGNC:54157 -HGNC:11967 CELF3 CUGBP Elav-like family member 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "CAGH4|BRUNOL1|ERDA4|MGC57297" "expanded repeat domain, CAG/CTG 4|CAG repeat domain|CUG-BP and ETR-3 like factor 3" TNRC4 "trinucleotide repeat containing 4|CUGBP, Elav-like family member 3" RNA binding motif containing 725 2000-01-27 2010-02-19 2017-01-20 2023-01-20 11189 ENSG00000159409 OTTHUMG00000013064 uc001eys.3 U80759 NM_007185 "CCDS1002|CCDS53367" Q5SZQ8 9225980 MGI:1926034 RGD:1563168 612678 HGNC:11967 "ENST00000290583.9|NM_007185.7" -HGNC:14015 CELF4 CUGBP Elav-like family member 4 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 BRUNOL4 "Bruno (Drosophila) -like 4, RNA binding protein|bruno-like 4, RNA binding protein (Drosophila)|CUGBP, Elav-like family member 4" RNA binding motif containing 725 2000-11-28 2010-02-19 2017-01-20 2023-01-20 56853 ENSG00000101489 OTTHUMG00000178178 uc002lae.3 AF248651 NM_020180 "CCDS32818|CCDS45856|CCDS45857|CCDS82250|CCDS45858" Q9BZC1 10893231 MGI:1932407 RGD:1307630 612679 HGNC:14015 "ENST00000420428.7|NM_020180.4" +HGNC:11967 CELF3 CUGBP Elav-like family member 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "CAGH4|BRUNOL1|ERDA4|MGC57297" "expanded repeat domain, CAG/CTG 4|CAG repeat domain|CUG-BP and ETR-3 like factor 3" TNRC4 "trinucleotide repeat containing 4|CUGBP, Elav-like family member 3" RNA binding motif containing 725 2000-01-27 2010-02-19 2017-01-20 2023-01-20 11189 ENSG00000159409 OTTHUMG00000013064 uc001eys.3 U80759 NM_007185 "CCDS53367|CCDS1002" Q5SZQ8 9225980 MGI:1926034 RGD:1563168 612678 HGNC:11967 "ENST00000290583.9|NM_007185.7" +HGNC:14015 CELF4 CUGBP Elav-like family member 4 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 BRUNOL4 "Bruno (Drosophila) -like 4, RNA binding protein|bruno-like 4, RNA binding protein (Drosophila)|CUGBP, Elav-like family member 4" RNA binding motif containing 725 2000-11-28 2010-02-19 2017-01-20 2023-01-20 56853 ENSG00000101489 OTTHUMG00000178178 uc002lae.3 AF248651 NM_020180 "CCDS45856|CCDS45857|CCDS32818|CCDS82250|CCDS45858" Q9BZC1 10893231 MGI:1932407 RGD:1307630 612679 HGNC:14015 "ENST00000420428.7|NM_020180.4" HGNC:14058 CELF5 CUGBP Elav-like family member 5 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 BRUNOL5 "Bruno (Drosophila) -like 5, RNA binding protein|bruno-like 5, RNA binding protein (Drosophila)|CUGBP, Elav-like family member 5" RNA binding motif containing 725 2000-11-28 2010-02-19 2017-01-20 2023-01-20 60680 ENSG00000161082 OTTHUMG00000180693 uc002lxm.4 AF248649 NM_021938 "CCDS54197|CCDS12106" Q8N6W0 10893231 MGI:2442333 RGD:1565016 612680 HGNC:14058 "ENST00000292672.7|NM_021938.4" -HGNC:14059 CELF6 CUGBP Elav-like family member 6 protein-coding gene gene with protein product Approved 15q23 15q23 BRUNOL6 "Bruno (Drosophila) -like 6, RNA binding protein|bruno-like 6, RNA binding protein (Drosophila)|CUGBP, Elav-like family member 6" RNA binding motif containing 725 2000-11-28 2010-02-19 2017-01-20 2023-01-20 60677 ENSG00000140488 OTTHUMG00000186423 uc002auh.3 AF425606 NM_052840 "CCDS53956|CCDS53955|CCDS10242" Q96J87 10893231 MGI:1923433 RGD:1310451 612681 HGNC:14059 "ENST00000287202.10|NM_052840.5" +HGNC:14059 CELF6 CUGBP Elav-like family member 6 protein-coding gene gene with protein product Approved 15q23 15q23 BRUNOL6 "Bruno (Drosophila) -like 6, RNA binding protein|bruno-like 6, RNA binding protein (Drosophila)|CUGBP, Elav-like family member 6" RNA binding motif containing 725 2000-11-28 2010-02-19 2017-01-20 2023-01-20 60677 ENSG00000140488 OTTHUMG00000186423 uc002auh.3 AF425606 NM_052840 "CCDS10242|CCDS53955|CCDS53956" Q96J87 10893231 MGI:1923433 RGD:1310451 612681 HGNC:14059 "ENST00000287202.10|NM_052840.5" HGNC:1849 CELP carboxyl ester lipase pseudogene pseudogene pseudogene Approved 9q34.13 09q34.13 CELL carboxyl ester lipase-like (bile salt-stimulated lipase-like) 1992-01-14 2003-03-07 2003-02-28 2021-10-07 1057 ENSG00000170827 OTTHUMG00000020857 L14813 NR_001275 1639390 PGOHUM00000236782 HGNC:1849 HGNC:1850 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "ME2|HFMI2|FMI2|CDHF9|ADGRC1" "flamingo homolog 2 (Drosophila)|adhesion G protein-coupled receptor C1" "cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog|cadherin, EGF LAG seven-pass G-type receptor 1" "Adhesion G protein-coupled receptors, subfamily C|CELSR cadherins" "913|1189" 2000-02-14 2016-01-15 2023-01-20 9620 ENSG00000075275 OTTHUMG00000150423 uc003bhw.1 AF231024 NM_014246 "CCDS14076|CCDS93179" Q9NYQ6 9339365 MGI:1100883 RGD:1560078 604523 470064 objectId:178 HGNC:1850 "ENST00000674500.2|NM_001378328.1" HGNC:1850 HGNC:55984 CELSR1P1 CELSR1 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 2021-11-12 2021-11-12 123466216 ENSG00000237517 PGOHUM00000297630 HGNC:3231 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "KIAA0279|MEGF3|Flamingo1|CDHF10|ADGRC2" adhesion G protein-coupled receptor C2 EGFL2 "cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog|cadherin, EGF LAG seven-pass G-type receptor 2" "Adhesion G protein-coupled receptors, subfamily C|CELSR cadherins" "913|1189" 1998-03-25 2016-01-15 2023-01-20 1952 ENSG00000143126 OTTHUMG00000012003 uc001dxa.5 D87469 NM_001408 CCDS796 Q9HCU4 "9693030|10907856" MGI:1858235 RGD:69237 604265 objectId:179 HGNC:3231 "ENST00000271332.4|NM_001408.3" HGNC:3230 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "MEGF2|HFMI1|FMI1|CDHF11|ADGRC3" "flamingo homolog 1 (Drosophila)|adhesion G protein-coupled receptor C3" EGFL1 "cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog|cadherin, EGF LAG seven-pass G-type receptor 3" "Adhesion G protein-coupled receptors, subfamily C|CELSR cadherins|MicroRNA protein coding host genes" "913|1189|1691" 1998-03-25 2016-01-15 2023-01-20 1951 ENSG00000008300 OTTHUMG00000133544 uc003cul.4 AF231023 NM_001407 CCDS2775 Q9NYQ7 9693030 MGI:1858236 RGD:621787 604264 objectId:180 HGNC:3230 "ENST00000164024.5|NM_001407.3" HGNC:29213 CEMIP cell migration inducing hyaluronidase 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "IR2155535|TMEM2L|HYBID|CEMIP1" hyaluronan-binding protein involved in hyaluronan depolymerization KIAA1199 "KIAA1199|cell migration inducing protein, hyaluronan binding|cell migration inducing hyaluronan binding protein" Hyaluronidases 1448 2004-06-29 2014-02-06 2018-02-26 2023-05-03 57214 ENSG00000103888 OTTHUMG00000144184 BC020256 NM_018689 CCDS10315 Q8WUJ3 "14577002|16157444|24573670" MGI:2443629 RGD:1305254 608366 HGNC:29213 "ENST00000394685.8|NM_001293298.2" HGNC:29213 -HGNC:11869 CEMIP2 cell migration inducing hyaluronidase 2 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 TMEM2 transmembrane protein 2 Hyaluronidases 1448 1999-03-24 2018-02-26 2018-02-26 2023-01-20 23670 ENSG00000135048 OTTHUMG00000020000 uc011lsa.1 NM_013390 "CCDS6638|CCDS47979" Q9UHN6 28246172 MGI:1890373 RGD:1307941 605835 HGNC:11869 "ENST00000377044.9|NM_013390.3" +HGNC:11869 CEMIP2 cell migration inducing hyaluronidase 2 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 TMEM2 transmembrane protein 2 Hyaluronidases 1448 1999-03-24 2018-02-26 2018-02-26 2023-01-20 23670 ENSG00000135048 OTTHUMG00000020000 uc011lsa.1 NM_013390 "CCDS47979|CCDS6638" Q9UHN6 28246172 MGI:1890373 RGD:1307941 605835 HGNC:11869 "ENST00000377044.9|NM_013390.3" HGNC:32553 CEMP1 cementum protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 CP-23 cementum protein-23 2006-09-19 2023-01-20 752014 ENSG00000205923 OTTHUMG00000177160 uc002cqr.3 AY584596 NM_001048212 CCDS42108 Q6PRD7 16263347 611113 HGNC:32553 "ENST00000567119.1|NM_001048212.3" HGNC:30460 CENATAC centrosomal AT-AC splicing factor protein-coding gene gene with protein product Approved 11q23.3 11q23.3 DLNB14 CCDC84 coiled-coil domain containing 84 2006-03-13 2020-06-08 2020-06-08 2023-01-20 338657 ENSG00000186166 OTTHUMG00000166348 uc001pul.5 AB094093 NM_198489 CCDS8405 Q86UT8 31722219 MGI:2685960 RGD:1597440 620142 HGNC:30460 "ENST00000334418.6|NM_198489.3" HGNC:54215 CENATAC-DT CENATAC divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 CCDC84-DT CCDC84 divergent transcript Divergent transcripts 1990 2019-04-09 2020-06-08 2020-06-08 2020-06-08 107984396 ENSG00000255121 HGNC:54215 @@ -4310,10 +4310,10 @@ HGNC:17268 CENPH centromere protein H protein-coding gene gene with protein prod HGNC:3968 CENPI centromere protein I protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "LRPR1|CENP-I|Mis6" FSHPRH1 "FSH primary response (LRPR1, rat) homolog 1|FSH primary response (LRPR1 homolog, rat) 1" Constitutive centromere associated network 1576 1996-10-26 2006-06-15 2006-06-15 2023-01-20 2491 ENSG00000102384 OTTHUMG00000022018 uc065agi.1 X97249 NM_006733 "CCDS83482|CCDS14479|CCDS94639" Q92674 16622420 MGI:2147897 RGD:2631 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CENPI 300065 HGNC:3968 "ENST00000682095.1|NM_001386188.2" HGNC:3968 HGNC:39575 CENPIP1 centromere protein I pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-03-15 2011-03-15 100419337 ENSG00000224778 OTTHUMG00000016482 NG_024888 PGOHUM00000248507 HGNC:39575 HGNC:17272 CENPJ centromere protein J protein-coding gene gene with protein product Approved 13q12.12-q12.13 13q12.12-q12.13 "CPAP|BM032|LAP|LIP1|Sas-4|SASS4|SCKL4" "centrosomal P4.1-associated protein|Seckel syndrome 4|Spindle assembly abnormal 4|LAG-3-associated protein" MCPH6 microcephaly, primary autosomal recessive 6 2002-02-15 2023-01-20 55835 ENSG00000151849 OTTHUMG00000016595 uc001upt.6 AF139625 NM_018451 CCDS9310 Q9HC77 "11003675|22699936" MGI:2684927 RGD:1310464 609279 119336 HGNC:17272 "ENST00000381884.9|NM_018451.5" HGNC:17272 -HGNC:29479 CENPK centromere protein K protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "FKSG14|SOLT|CENP-K" Constitutive centromere associated network 1576 2006-06-15 2023-01-20 64105 ENSG00000123219 OTTHUMG00000131227 uc003jts.4 BC008504 NM_022145 "CCDS3984|CCDS87299" Q9BS16 8950979 MGI:1926210 RGD:1310461 611502 HGNC:29479 "ENST00000396679.6|NM_022145.5" +HGNC:29479 CENPK centromere protein K protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "FKSG14|SOLT|CENP-K" Constitutive centromere associated network 1576 2006-06-15 2023-01-20 64105 ENSG00000123219 OTTHUMG00000131227 uc003jts.4 BC008504 NM_022145 "CCDS87299|CCDS3984" Q9BS16 8950979 MGI:1926210 RGD:1310461 611502 HGNC:29479 "ENST00000396679.6|NM_022145.5" HGNC:17879 CENPL centromere protein L protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "dJ383J4.3|FLJ31044" C1orf155 chromosome 1 open reading frame 155 Constitutive centromere associated network 1576 2005-07-14 2006-06-15 2006-06-15 2023-01-20 91687 ENSG00000120334 OTTHUMG00000034802 uc001gjf.5 "BC033154|BC019022|AK055606" NM_033319 "CCDS30938|CCDS44277" Q8N0S6 "16622420|16622419" MGI:1917704 RGD:1311868 611503 HGNC:17879 "ENST00000682279.1|NM_001387287.1" -HGNC:18352 CENPM centromere protein M protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "Pane1|CENP-M|MGC861" C22orf18 chromosome 22 open reading frame 18 "Minor histocompatibility antigens|Constitutive centromere associated network" "870|1576" 2002-04-03 2006-06-15 2006-06-15 2023-01-20 79019 ENSG00000100162 OTTHUMG00000151277 uc003bbn.4 BC000705 NM_024053 "CCDS77682|CCDS77681|CCDS14025|CCDS46720|CCDS46719|CCDS77683" Q9NSP4 "16622420|16622419" MGI:1913820 RGD:1307309 610152 HGNC:18352 "ENST00000215980.10|NM_024053.5" -HGNC:30873 CENPN centromere protein N protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "FLJ13607|FLJ22660|BM039" C16orf60 chromosome 16 open reading frame 60 Constitutive centromere associated network 1576 2006-02-20 2006-06-15 2006-06-15 2023-01-20 55839 ENSG00000166451 OTTHUMG00000137628 uc002ffx.3 AK026313 NM_018455 "CCDS42199|CCDS10931|CCDS58483|CCDS58482|CCDS42200" Q96H22 16622419 MGI:1919405 RGD:1310953 611509 HGNC:30873 "ENST00000305850.10|NM_001100624.3" +HGNC:18352 CENPM centromere protein M protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "Pane1|CENP-M|MGC861" C22orf18 chromosome 22 open reading frame 18 "Minor histocompatibility antigens|Constitutive centromere associated network" "870|1576" 2002-04-03 2006-06-15 2006-06-15 2023-01-20 79019 ENSG00000100162 OTTHUMG00000151277 uc003bbn.4 BC000705 NM_024053 "CCDS14025|CCDS77682|CCDS46719|CCDS77683|CCDS46720|CCDS77681" Q9NSP4 "16622420|16622419" MGI:1913820 RGD:1307309 610152 HGNC:18352 "ENST00000215980.10|NM_024053.5" +HGNC:30873 CENPN centromere protein N protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "FLJ13607|FLJ22660|BM039" C16orf60 chromosome 16 open reading frame 60 Constitutive centromere associated network 1576 2006-02-20 2006-06-15 2006-06-15 2023-01-20 55839 ENSG00000166451 OTTHUMG00000137628 uc002ffx.3 AK026313 NM_018455 "CCDS58482|CCDS10931|CCDS58483|CCDS42200|CCDS42199" Q96H22 16622419 MGI:1919405 RGD:1310953 611509 HGNC:30873 "ENST00000305850.10|NM_001100624.3" HGNC:55106 CENPN-AS1 CENPN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 Antisense RNAs 1987 2020-06-24 2020-06-24 107984858 ENSG00000260213 XR_001752273 HGNC:54592 CENPNP1 CENPN pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-10-16 2020-01-21 100132498 ENSG00000233671 NG_021513 HGNC:54593 CENPNP2 CENPN pseudogene 2 pseudogene pseudogene Approved 2q13 02q13 2019-10-16 2020-01-21 100133059 ENSG00000228615 NG_030147 @@ -4332,44 +4332,44 @@ HGNC:31851 CENPVL1 centromere protein V like 1 protein-coding gene gene with pro HGNC:43879 CENPVL2 centromere protein V like 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CENPVP2 centromere protein V pseudogene 2 2012-04-17 2016-07-19 2016-07-19 2023-01-20 441495 ENSG00000283093 OTTHUMG00000191517 NM_001355278 CCDS87744 P0DPI3 27250503 PGOHUM00000304619 HGNC:43879 "ENST00000634648.1|NM_001355278.1" HGNC:43880 CENPVL3 centromere protein V like 3 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CENPVP3 centromere protein V pseudogene 3 2012-04-17 2016-07-19 2016-07-19 2023-01-20 347549 ENSG00000224109 OTTHUMG00000021534 uc284rbj.1 NM_001355276 CCDS87743 A0A0U1RRI6 27250503 MGI:1920389 PGOHUM00000241297 HGNC:43880 "ENST00000417339.4|NM_001355276.2" HGNC:21488 CENPW centromere protein W protein-coding gene gene with protein product Approved 6q22.32 06q22.32 CUG2 cancer-upregulated gene 2 C6orf173 chromosome 6 open reading frame 173 Constitutive centromere associated network 1576 2003-11-26 2010-04-16 2010-04-16 2023-01-20 387103 ENSG00000203760 OTTHUMG00000015518 uc003qao.5 BC039556 NM_001012507 "CCDS75516|CCDS69196|CCDS34529" Q5EE01 "17610844|19070575" MGI:1913561 RGD:1593465 611264 HGNC:21488 "ENST00000368328.5|NM_001012507.4" -HGNC:11422 CENPX centromere protein X protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC14480|FAAP10|CENP-X" "STRA13|MHF2" "stimulated by retinoic acid 13 homolog (mouse)|stimulated by retinoic acid 13|FANCM associated histone fold protein 2" Constitutive centromere associated network 1576 2004-02-16 2016-09-08 2016-09-08 2023-01-20 201254 ENSG00000169689 OTTHUMG00000132129 uc031rey.2 BC009571 NM_144998 "CCDS32772|CCDS59303|CCDS82223|CCDS59302" A8MT69 "24522885|25038251" MGI:894324 RGD:1590057 615128 HGNC:11422 "ENST00000392359.8|NM_001271006.2" +HGNC:11422 CENPX centromere protein X protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC14480|FAAP10|CENP-X" "STRA13|MHF2" "stimulated by retinoic acid 13 homolog (mouse)|stimulated by retinoic acid 13|FANCM associated histone fold protein 2" Constitutive centromere associated network 1576 2004-02-16 2016-09-08 2016-09-08 2023-01-20 201254 ENSG00000169689 OTTHUMG00000132129 uc031rey.2 BC009571 NM_144998 "CCDS59303|CCDS82223|CCDS59302|CCDS32772" A8MT69 "24522885|25038251" MGI:894324 RGD:1590057 615128 HGNC:11422 "ENST00000392359.8|NM_001271006.2" HGNC:25024 CEP15 centrosomal protein 15 protein-coding gene gene with protein product Approved 3p14.2 03p14.2 HT021 C3orf14 chromosome 3 open reading frame 14 2004-07-12 2023-03-27 2023-03-27 2023-03-27 57415 ENSG00000114405 OTTHUMG00000158704 uc010hnq.4 AF236158 NM_020685 CCDS2896 Q9HBI5 21156036 MGI:1917937 RGD:1306063 HGNC:25024 "ENST00000462069.6|NM_001291941.3" -HGNC:28209 CEP19 centrosomal protein 19 protein-coding gene gene with protein product Approved 3q29 03q29 MGC14126 C3orf34 "chromosome 3 open reading frame 34|centrosomal protein 19kDa" 2006-01-02 2011-05-06 2016-03-30 2023-01-20 84984 ENSG00000174007 OTTHUMG00000153933 uc011btw.3 BC007827 NM_032898 "CCDS93445|CCDS43193" Q96LK0 21399614 MGI:1914244 RGD:621352 615586 400633 HGNC:28209 "ENST00000409690.5|NM_032898.5" HGNC:28209 +HGNC:28209 CEP19 centrosomal protein 19 protein-coding gene gene with protein product Approved 3q29 03q29 MGC14126 C3orf34 "chromosome 3 open reading frame 34|centrosomal protein 19kDa" 2006-01-02 2011-05-06 2016-03-30 2023-01-20 84984 ENSG00000174007 OTTHUMG00000153933 uc011btw.3 BC007827 NM_032898 "CCDS43193|CCDS93445" Q96LK0 21399614 MGI:1914244 RGD:621352 615586 400633 HGNC:28209 "ENST00000409690.5|NM_032898.5" HGNC:28209 HGNC:54796 CEP19P1 CEP19 pseudogene 1 pseudogene pseudogene Approved 2q37.2 02q37.2 2020-01-08 2020-01-21 642692 ENSG00000231032 NG_030144 -HGNC:26435 CEP20 centrosomal protein 20 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "DKFZp686N1651|FLJ31153|PHSECRG2|FOR20" "pluripotent embryonic stem cell-related protein|FOP-related protein of 20 kDa" "C16orf63|FOPNL" "chromosome 16 open reading frame 63|FGFR1OP N-terminal like" 2006-02-20 2020-01-09 2020-01-09 2023-01-20 123811 ENSG00000133393 OTTHUMG00000129923 uc002dec.2 AL832498 NM_144600 "CCDS76832|CCDS76831|CCDS76829|CCDS76830|CCDS76833|CCDS10567" Q96NB1 20551181 MGI:1913336 RGD:1305823 617149 HGNC:26435 "ENST00000255759.11|NM_144600.4" -HGNC:12370 CEP41 centrosomal protein 41 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "DKFZp762H1311|FLJ22445|JBTS15" TSGA14 "testis specific, 14|centrosomal protein 41kDa" 2000-08-24 2011-10-04 2016-03-30 2023-01-20 95681 ENSG00000106477 OTTHUMG00000157823 uc003vpz.5 AJ278890 NM_018718 "CCDS59080|CCDS5821|CCDS59079|CCDS59078" Q9BYV8 "14654843|22246503" MGI:1891414 RGD:1562034 610523 292992 HGNC:12370 "ENST00000223208.10|NM_018718.3" HGNC:12370 -HGNC:17012 CEP43 centrosomal protein 43 protein-coding gene gene with protein product Approved 6q27 06q27 FOP FGFR1OP FGFR1 oncogene partner 2003-05-21 2020-01-09 2020-01-09 2023-01-20 11116 ENSG00000213066 OTTHUMG00000016011 uc003qvj.5 Y18046 NM_007045 "CCDS5297|CCDS5296|CCDS75550" O95684 "9949182|10373756" MGI:1922546 RGD:1583370 605392 HGNC:17012 "ENST00000366847.9|NM_007045.4" -HGNC:29356 CEP44 centrosomal protein 44 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 KIAA1712 "KIAA1712|centrosomal protein 44kDa" 2004-01-30 2011-05-06 2016-03-30 2023-01-20 80817 ENSG00000164118 OTTHUMG00000160752 uc063bbf.1 AB051499 NM_030633 "CCDS34106|CCDS47163" Q9C0F1 21399614 MGI:3525111 RGD:1308517 620217 HGNC:29356 "ENST00000503780.6|NM_001040157.3" +HGNC:26435 CEP20 centrosomal protein 20 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "DKFZp686N1651|FLJ31153|PHSECRG2|FOR20" "pluripotent embryonic stem cell-related protein|FOP-related protein of 20 kDa" "C16orf63|FOPNL" "chromosome 16 open reading frame 63|FGFR1OP N-terminal like" 2006-02-20 2020-01-09 2020-01-09 2023-01-20 123811 ENSG00000133393 OTTHUMG00000129923 uc002dec.2 AL832498 NM_144600 "CCDS76829|CCDS10567|CCDS76831|CCDS76830|CCDS76833|CCDS76832" Q96NB1 20551181 MGI:1913336 RGD:1305823 617149 HGNC:26435 "ENST00000255759.11|NM_144600.4" +HGNC:12370 CEP41 centrosomal protein 41 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "DKFZp762H1311|FLJ22445|JBTS15" TSGA14 "testis specific, 14|centrosomal protein 41kDa" 2000-08-24 2011-10-04 2016-03-30 2023-01-20 95681 ENSG00000106477 OTTHUMG00000157823 uc003vpz.5 AJ278890 NM_018718 "CCDS5821|CCDS59080|CCDS59078|CCDS59079" Q9BYV8 "14654843|22246503" MGI:1891414 RGD:1562034 610523 292992 HGNC:12370 "ENST00000223208.10|NM_018718.3" HGNC:12370 +HGNC:17012 CEP43 centrosomal protein 43 protein-coding gene gene with protein product Approved 6q27 06q27 FOP FGFR1OP FGFR1 oncogene partner 2003-05-21 2020-01-09 2020-01-09 2023-01-20 11116 ENSG00000213066 OTTHUMG00000016011 uc003qvj.5 Y18046 NM_007045 "CCDS5296|CCDS75550|CCDS5297" O95684 "9949182|10373756" MGI:1922546 RGD:1583370 605392 HGNC:17012 "ENST00000366847.9|NM_007045.4" +HGNC:29356 CEP44 centrosomal protein 44 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 KIAA1712 "KIAA1712|centrosomal protein 44kDa" 2004-01-30 2011-05-06 2016-03-30 2023-01-20 80817 ENSG00000164118 OTTHUMG00000160752 uc063bbf.1 AB051499 NM_030633 "CCDS47163|CCDS34106" Q9C0F1 21399614 MGI:3525111 RGD:1308517 620217 HGNC:29356 "ENST00000503780.6|NM_001040157.3" HGNC:1161 CEP55 centrosomal protein 55 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "FLJ10540|CT111" cancer/testis antigen 111 C10orf3 "chromosome 10 open reading frame 3|centrosomal protein 55kDa" 2000-08-24 2005-12-01 2016-03-30 2023-01-20 55165 ENSG00000138180 OTTHUMG00000018774 uc001kiq.4 AK001402 NM_018131 CCDS7428 Q53EZ4 "16198290|30622327" MGI:1921357 RGD:1305340 610000 HGNC:1161 "ENST00000371485.8|NM_018131.5" HGNC:1161 HGNC:30794 CEP57 centrosomal protein 57 protein-coding gene gene with protein product Approved 11q21 11q21 "Translokin|TSP57|KIAA0092" centrosomal protein 57kDa 2005-12-02 2016-03-30 2023-01-20 9702 ENSG00000166037 OTTHUMG00000167740 uc001pfp.2 D42054 NM_014679 "CCDS8304|CCDS58166|CCDS86240|CCDS58167" Q86XR8 7788527 MGI:1915551 RGD:1309884 LRG_526|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_526.xml 607951 270019 HGNC:30794 "ENST00000325542.10|NM_014679.5" HGNC:30794 HGNC:21561 CEP57L1 centrosomal protein 57 like 1 protein-coding gene gene with protein product Approved 6q21 06q21 "bA487F23.2|MGC21731" C6orf182 "chromosome 6 open reading frame 182|centrosomal protein 57kDa-like 1" 2003-06-24 2010-09-30 2016-03-30 2023-01-20 285753 ENSG00000183137 OTTHUMG00000015336 uc063qnc.1 AK092723 NM_173830 "CCDS5071|CCDS87428|CCDS87429|CCDS64491|CCDS87427" Q8IYX8 MGI:1915511 RGD:1311358 HGNC:21561 "ENST00000517392.6|NM_001271852.3" HGNC:23521 CEP57L1P1 centrosomal protein 57 like 1 pseudogene 1 pseudogene pseudogene Approved 10q22.1 10q22.1 "C10orf37|C6orf182P" "chromosome 10 open reading frame 37|chromosome 6 open reading frame 182 pseudogene|centrosomal protein 57kDa-like 1 pseudogene 1" 2004-05-27 2010-09-30 2016-03-30 2016-10-05 221017 ENSG00000224725 OTTHUMG00000018406 NG_005976 PGOHUM00000256660 HGNC:23521 -HGNC:25815 CEP63 centrosomal protein 63 protein-coding gene gene with protein product Approved 3q22.2 03q22.2 FLJ13386 centrosomal protein 63kDa 2005-12-01 2016-03-30 2023-01-20 80254 ENSG00000182923 OTTHUMG00000159725 uc003eqo.2 AK056465 NM_025180 "CCDS43154|CCDS93389|CCDS93392|CCDS43153|CCDS43152|CCDS3086|CCDS93388" Q96MT8 "14654843|24240477" MGI:2158560 RGD:1561183 614724 292102 HGNC:25815 "ENST00000675561.1|NM_001353108.3" HGNC:25815 -HGNC:29076 CEP68 centrosomal protein 68 protein-coding gene gene with protein product Approved 2p14 02p14 KIAA0582 "KIAA0582|centrosomal protein 68kDa" 2004-03-29 2005-12-01 2016-03-30 2023-01-20 23177 ENSG00000011523 OTTHUMG00000129538 uc002sdl.5 BC004873 NM_015147 "CCDS1880|CCDS82457|CCDS92772" Q76N32 "9628581|9847074|14654843" MGI:2667663 RGD:1309101 616889 HGNC:29076 "ENST00000377990.7|NM_015147.3" -HGNC:29972 CEP70 centrosomal protein 70 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "BITE|FLJ13036" centrosomal protein 70kDa 2005-12-01 2016-03-30 2023-01-20 80321 ENSG00000114107 OTTHUMG00000159891 uc003esl.5 AF202146 NM_024491 "CCDS75023|CCDS75024|CCDS3102|CCDS82842|CCDS75022" Q8NHQ1 14654843 MGI:1915371 RGD:1561486 614310 HGNC:29972 "ENST00000264982.8|NM_024491.4" +HGNC:25815 CEP63 centrosomal protein 63 protein-coding gene gene with protein product Approved 3q22.2 03q22.2 FLJ13386 centrosomal protein 63kDa 2005-12-01 2016-03-30 2023-01-20 80254 ENSG00000182923 OTTHUMG00000159725 uc003eqo.2 AK056465 NM_025180 "CCDS93392|CCDS93388|CCDS43154|CCDS43152|CCDS3086|CCDS93389|CCDS43153" Q96MT8 "14654843|24240477" MGI:2158560 RGD:1561183 614724 292102 HGNC:25815 "ENST00000675561.1|NM_001353108.3" HGNC:25815 +HGNC:29076 CEP68 centrosomal protein 68 protein-coding gene gene with protein product Approved 2p14 02p14 KIAA0582 "KIAA0582|centrosomal protein 68kDa" 2004-03-29 2005-12-01 2016-03-30 2023-01-20 23177 ENSG00000011523 OTTHUMG00000129538 uc002sdl.5 BC004873 NM_015147 "CCDS82457|CCDS1880|CCDS92772" Q76N32 "9628581|9847074|14654843" MGI:2667663 RGD:1309101 616889 HGNC:29076 "ENST00000377990.7|NM_015147.3" +HGNC:29972 CEP70 centrosomal protein 70 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "BITE|FLJ13036" centrosomal protein 70kDa 2005-12-01 2016-03-30 2023-01-20 80321 ENSG00000114107 OTTHUMG00000159891 uc003esl.5 AF202146 NM_024491 "CCDS75023|CCDS75024|CCDS82842|CCDS3102|CCDS75022" Q8NHQ1 14654843 MGI:1915371 RGD:1561486 614310 HGNC:29972 "ENST00000264982.8|NM_024491.4" HGNC:25547 CEP72 centrosomal protein 72 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "KIAA1519|FLJ10565" centrosomal protein 72kDa 2005-12-01 2016-03-30 2023-01-20 55722 ENSG00000112877 OTTHUMG00000161745 uc003jbf.4 BC000132 NM_018140 CCDS34126 Q9P209 10819331 MGI:1921720 RGD:1566336 616475 HGNC:25547 "ENST00000264935.6|NM_018140.4" HGNC:55563 CEP72-DT CEP72 divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Divergent transcripts 1990 2021-04-14 2021-04-14 100996325 ENSG00000249650 NR_103444 -HGNC:25727 CEP76 centrosomal protein 76 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "HsT1705|FLJ12542" C18orf9 "chromosome 18 open reading frame 9|centrosomal protein 76kDa" 2004-01-04 2005-12-01 2016-03-30 2023-01-20 79959 ENSG00000101624 OTTHUMG00000131701 uc002kri.5 BC026307 NM_024899 "CCDS62390|CCDS11861" Q8TAP6 14654843 MGI:1923401 RGD:1305183 HGNC:25727 "ENST00000262127.7|NM_024899.4" -HGNC:25740 CEP78 centrosomal protein 78 protein-coding gene gene with protein product Approved 9q21.2 09q21.2 FLJ12643 C9orf81 "chromosome 9 open reading frame 81|centrosomal protein 78kDa" 2004-01-29 2005-12-01 2016-03-30 2023-01-20 84131 ENSG00000148019 OTTHUMG00000020062 uc004aky.5 BC058931 NM_001098802 "CCDS87660|CCDS47984|CCDS83376|CCDS83377|CCDS83378|CCDS47985" Q5JTW2 14654843 MGI:1924386 RGD:620464 617110 HGNC:25740 "ENST00000643273.2|NM_001330691.3" HGNC:25740 +HGNC:25727 CEP76 centrosomal protein 76 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "HsT1705|FLJ12542" C18orf9 "chromosome 18 open reading frame 9|centrosomal protein 76kDa" 2004-01-04 2005-12-01 2016-03-30 2023-01-20 79959 ENSG00000101624 OTTHUMG00000131701 uc002kri.5 BC026307 NM_024899 "CCDS11861|CCDS62390" Q8TAP6 14654843 MGI:1923401 RGD:1305183 HGNC:25727 "ENST00000262127.7|NM_024899.4" +HGNC:25740 CEP78 centrosomal protein 78 protein-coding gene gene with protein product Approved 9q21.2 09q21.2 FLJ12643 C9orf81 "chromosome 9 open reading frame 81|centrosomal protein 78kDa" 2004-01-29 2005-12-01 2016-03-30 2023-01-20 84131 ENSG00000148019 OTTHUMG00000020062 uc004aky.5 BC058931 NM_001098802 "CCDS47984|CCDS83378|CCDS87660|CCDS83376|CCDS83377|CCDS47985" Q5JTW2 14654843 MGI:1924386 RGD:620464 617110 HGNC:25740 "ENST00000643273.2|NM_001330691.3" HGNC:25740 HGNC:17966 CEP83 centrosomal protein 83 protein-coding gene gene with protein product Approved 12q22 12q22 "NY-REN-58|NPHP18" CCDC41 "coiled-coil domain containing 41|centrosomal protein 83kDa" 2005-12-14 2014-03-06 2016-03-30 2023-01-20 51134 ENSG00000173588 OTTHUMG00000170242 AF155115 NM_016122 "CCDS86323|CCDS41820" Q9Y592 "10508479|23348840" MGI:1924298 RGD:1359593 615847 404809 HGNC:17966 "ENST00000397809.10|NM_016122.3" HGNC:17966 HGNC:27055 CEP83-DT CEP83 divergent transcript non-coding RNA RNA, long non-coding Approved 12q22 12q22 "CCDC41-AS1|CEP83-AS1" "CCDC41 antisense RNA 1 (head to head)|CEP83 antisense RNA 1 (head to head)" Divergent transcripts 1990 2013-05-30 2018-03-22 2018-03-22 2018-03-22 144486 ENSG00000278916 OTTHUMG00000170256 NR_027035 12477932 CEP83-AS1 HGNC:27055 -HGNC:25309 CEP85 centrosomal protein 85 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DKFZP434L0117 CCDC21 "coiled-coil domain containing 21|centrosomal protein 85kDa" 2005-07-21 2011-05-06 2016-03-30 2023-01-20 64793 ENSG00000130695 OTTHUMG00000003380 uc001bls.3 AK024038 NM_022778 "CCDS277|CCDS81285|CCDS60038" Q6P2H3 29712910 MGI:1917262 RGD:1311520 618898 HGNC:25309 "ENST00000451429.8|NM_001319944.2" +HGNC:25309 CEP85 centrosomal protein 85 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DKFZP434L0117 CCDC21 "coiled-coil domain containing 21|centrosomal protein 85kDa" 2005-07-21 2011-05-06 2016-03-30 2023-01-20 64793 ENSG00000130695 OTTHUMG00000003380 uc001bls.3 AK024038 NM_022778 "CCDS81285|CCDS277|CCDS60038" Q6P2H3 29712910 MGI:1917262 RGD:1311520 618898 HGNC:25309 "ENST00000451429.8|NM_001319944.2" HGNC:21638 CEP85L centrosomal protein 85 like protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "NY-BR-15|bA57K17.2" C6orf204 "chromosome 6 open reading frame 204|centrosomal protein 85kDa-like" 2003-11-26 2011-11-25 2016-03-30 2023-01-20 387119 ENSG00000111860 OTTHUMG00000015465 uc003pyb.5 AF308284 NM_001042475 "CCDS55052|CCDS43498|CCDS5119" Q5SZL2 MGI:3642684 RGD:2319745 618865 HGNC:21638 "ENST00000368491.8|NM_001042475.3" HGNC:21638 HGNC:25907 CEP89 centrosomal protein 89 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 FLJ14640 CCDC123 "coiled-coil domain containing 123|centrosomal protein 89kDa" 2006-08-08 2011-05-06 2016-03-30 2023-01-20 84902 ENSG00000121289 OTTHUMG00000180424 uc002nty.4 AL832158 NM_032816 CCDS32987 Q96ST8 16395595 MGI:1919390 RGD:1311730 615470 470066 HGNC:25907 "ENST00000305768.10|NM_032816.5" HGNC:25907 HGNC:25141 CEP95 centrosomal protein 95 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 DKFZp667E1824 CCDC45 "coiled-coil domain containing 45|centrosomal protein 95kDa" 2005-12-16 2011-05-06 2016-03-30 2023-01-20 90799 ENSG00000258890 OTTHUMG00000179174 uc002jem.4 AL832822 NM_138363 CCDS45763 Q96GE4 21399614 MGI:2443502 RGD:1309655 HGNC:25141 "ENST00000556440.7|NM_138363.3" -HGNC:26244 CEP97 centrosomal protein 97 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 FLJ23047 LRRIQ2 "leucine-rich repeats and IQ motif containing 2|centrosomal protein 97kDa" 2004-09-01 2008-01-08 2016-03-30 2023-01-20 79598 ENSG00000182504 OTTHUMG00000159162 uc003dvk.2 AL833269 NM_024548 "CCDS2944|CCDS77780|CCDS93335|CCDS93336" Q8IW35 "17719545|18068367" MGI:1921451 RGD:1307400 615864 HGNC:26244 "ENST00000341893.8|NM_024548.4" +HGNC:26244 CEP97 centrosomal protein 97 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 FLJ23047 LRRIQ2 "leucine-rich repeats and IQ motif containing 2|centrosomal protein 97kDa" 2004-09-01 2008-01-08 2016-03-30 2023-01-20 79598 ENSG00000182504 OTTHUMG00000159162 uc003dvk.2 AL833269 NM_024548 "CCDS2944|CCDS77780|CCDS93336|CCDS93335" Q8IW35 "17719545|18068367" MGI:1921451 RGD:1307400 615864 HGNC:26244 "ENST00000341893.8|NM_024548.4" HGNC:24866 CEP104 centrosomal protein 104 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "GlyBP|RP1-286D6.4|CFAP256|ROC22|JBTS25" glycine, glutamate, thienylcyclohexylpiperidine binding protein KIAA0562 "KIAA0562|centrosomal protein 104kDa" "Cilia and flagella associated|TOG domain containing" "1491|1495" 2006-03-20 2011-05-06 2016-03-30 2023-01-20 9731 ENSG00000116198 OTTHUMG00000003507 uc001aky.3 AB011134 NM_014704 CCDS30571 O60308 "7488117|21399614|23970417" MGI:2687282 RGD:708505 616690 448865 HGNC:24866 "ENST00000378230.8|NM_014704.4" HGNC:24866 -HGNC:28514 CEP112 centrosomal protein 112 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 MGC33887 CCDC46 "coiled-coil domain containing 46|centrosomal protein 112kDa" 2005-12-19 2011-05-06 2016-03-30 2023-01-20 201134 ENSG00000154240 OTTHUMG00000179474 uc002jfm.4 AF458591 NM_145036 "CCDS32710|CCDS77093|CCDS32711" Q8N8E3 21399614 MGI:1923673 RGD:1564168 618980 HGNC:28514 "ENST00000535342.7|NM_001199165.4" -HGNC:26690 CEP120 centrosomal protein 120 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 FLJ36090 CCDC100 "coiled-coil domain containing 100|centrosomal protein 120kDa" 2006-04-03 2008-08-14 2016-03-30 2023-01-20 153241 ENSG00000168944 OTTHUMG00000128922 uc003ktk.4 AK095646 NM_153223 "CCDS54890|CCDS93771|CCDS4134|CCDS93770" Q8N960 17920017 MGI:2147298 RGD:1565619 613446 422916 HGNC:26690 "ENST00000306467.10|NM_001375405.1" HGNC:26690 +HGNC:28514 CEP112 centrosomal protein 112 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 MGC33887 CCDC46 "coiled-coil domain containing 46|centrosomal protein 112kDa" 2005-12-19 2011-05-06 2016-03-30 2023-01-20 201134 ENSG00000154240 OTTHUMG00000179474 uc002jfm.4 AF458591 NM_145036 "CCDS32711|CCDS32710|CCDS77093" Q8N8E3 21399614 MGI:1923673 RGD:1564168 618980 HGNC:28514 "ENST00000535342.7|NM_001199165.4" +HGNC:26690 CEP120 centrosomal protein 120 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 FLJ36090 CCDC100 "coiled-coil domain containing 100|centrosomal protein 120kDa" 2006-04-03 2008-08-14 2016-03-30 2023-01-20 153241 ENSG00000168944 OTTHUMG00000128922 uc003ktk.4 AK095646 NM_153223 "CCDS93770|CCDS54890|CCDS93771|CCDS4134" Q8N960 17920017 MGI:2147298 RGD:1565619 613446 422916 HGNC:26690 "ENST00000306467.10|NM_001375405.1" HGNC:26690 HGNC:29264 CEP126 centrosomal protein 126 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 KIAA1377 "KIAA1377|centrosomal protein 126kDa" 2006-02-03 2015-03-12 2016-03-30 2023-01-20 57562 ENSG00000110318 OTTHUMG00000167319 AK095004 NM_020802 CCDS31658 Q9P2H0 "22712476|24867236" MGI:2680221 RGD:1563556 614634 306100 HGNC:29264 "ENST00000263468.13|NM_020802.4" HGNC:20359 CEP128 centrosomal protein 128 protein-coding gene gene with protein product Approved 14q31.1 14q31.1 "C14orf61|C14orf145" "chromosome 14 open reading frame 61|chromosome 14 open reading frame 145|centrosomal protein 128kDa" 2003-01-28 2011-05-06 2016-03-30 2023-01-20 145508 ENSG00000100629 OTTHUMG00000171442 uc059dxn.1 AK056756 NM_152446 CCDS32130 Q6ZU80 21399614 MGI:1922466 RGD:1595693 HGNC:20359 "ENST00000555265.6|NM_152446.5" -HGNC:29511 CEP131 centrosomal protein 131 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "AZ1|KIAA1118" AZI1 "5-azacytidine induced 1|centrosomal protein 131kDa" 2004-07-15 2014-03-06 2016-03-30 2023-01-20 22994 ENSG00000141577 OTTHUMG00000132728 AB029041 NM_014984 "CCDS32764|CCDS82214|CCDS45808|CCDS82215" Q9UPN4 "10470851|9070930|14654843" MGI:107440 RGD:1307745 613479 HGNC:29511 "ENST00000450824.7|NM_014984.4" HGNC:29511 +HGNC:29511 CEP131 centrosomal protein 131 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "AZ1|KIAA1118" AZI1 "5-azacytidine induced 1|centrosomal protein 131kDa" 2004-07-15 2014-03-06 2016-03-30 2023-01-20 22994 ENSG00000141577 OTTHUMG00000132728 AB029041 NM_014984 "CCDS45808|CCDS82214|CCDS82215|CCDS32764" Q9UPN4 "10470851|9070930|14654843" MGI:107440 RGD:1307745 613479 HGNC:29511 "ENST00000450824.7|NM_014984.4" HGNC:29511 HGNC:29086 CEP135 centrosomal protein 135 protein-coding gene gene with protein product Approved 4q12 04q12 FLJ13621 "KIAA0635|CEP4" "KIAA0635|centrosomal protein 4|centrosomal protein 135kDa" 2004-01-28 2005-12-02 2016-03-30 2023-01-20 9662 ENSG00000174799 OTTHUMG00000160748 uc003hbi.5 AB014535 NM_025009 CCDS33986 Q66GS9 "9734811|14654843" MGI:2681869 RGD:1310726 611423 295279 HGNC:29086 "ENST00000257287.5|NM_025009.5" HGNC:29086 HGNC:29298 CEP152 centrosomal protein 152 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "KIAA0912|SCKL5|MCPH9" asterless centrosomal protein 152kDa 2005-12-01 2016-03-30 2023-01-20 22995 ENSG00000103995 OTTHUMG00000172219 uc001zwy.4 AB020719 NM_014985 "CCDS58361|CCDS42033" O94986 "14654843|21131973" MGI:2139083 RGD:1305348 613529 240669 HGNC:29298 "ENST00000380950.7|NM_001194998.2" HGNC:29298 HGNC:21107 CEP162 centrosomal protein 162 protein-coding gene gene with protein product Approved 6q14.2-q14.3 06q14.2-q14.3 QN1 "C6orf84|KIAA1009" "chromosome 6 open reading frame 84|KIAA1009|centrosomal protein 162kDa" 2003-05-20 2014-03-06 2016-03-30 2023-01-20 22832 ENSG00000135315 OTTHUMG00000015123 AB023226 NM_014895 "CCDS34494|CCDS69149" Q5TB80 23644468 MGI:1925343 RGD:1307365 610201 HGNC:21107 "ENST00000403245.8|NM_014895.4" HGNC:29182 CEP164 centrosomal protein 164 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "KIAA1052|NPHP15" centrosomal protein 164kDa 2005-12-01 2016-03-30 2023-01-20 22897 ENSG00000110274 OTTHUMG00000167070 uc001prc.4 AB028975 NM_014956 CCDS31683 Q9UPV0 "10470851|14654843" MGI:2384878 RGD:1561243 614848 313834 HGNC:29182 "ENST00000278935.8|NM_014956.5" HGNC:29182 HGNC:44988 CEP164P1 centrosomal protein 164 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 centrosomal protein 164kDa pseudogene 1 2013-01-03 2016-03-30 2016-03-30 100289237 ENSG00000226937 OTTHUMG00000018069 NG_032712 PGOHUM00000238442 HGNC:44988 -HGNC:28920 CEP170 centrosomal protein 170 protein-coding gene gene with protein product Approved 1q43 01q43 "KAB|FAM68A" "KARP 1 binding protein|XRCC5 binding protein" KIAA0470 "KIAA0470|centrosomal protein 170kDa" 2005-05-16 2006-01-12 2016-03-30 2023-01-20 9859 ENSG00000143702 OTTHUMG00000039862 uc057qug.1 AB022657 NM_014812 "CCDS44337|CCDS44338|CCDS44339" Q5SW79 15616186 MGI:1918348 RGD:621868 613023 HGNC:28920 "ENST00000366542.6|NM_014812.3" +HGNC:28920 CEP170 centrosomal protein 170 protein-coding gene gene with protein product Approved 1q43 01q43 "KAB|FAM68A" "KARP 1 binding protein|XRCC5 binding protein" KIAA0470 "KIAA0470|centrosomal protein 170kDa" 2005-05-16 2006-01-12 2016-03-30 2023-01-20 9859 ENSG00000143702 OTTHUMG00000039862 uc057qug.1 AB022657 NM_014812 "CCDS44337|CCDS44339|CCDS44338" Q5SW79 15616186 MGI:1918348 RGD:621868 613023 HGNC:28920 "ENST00000366542.6|NM_014812.3" HGNC:20362 CEP170B centrosomal protein 170B protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "FAM68C|Cep170R" Cep170-related KIAA0284 KIAA0284 2003-11-21 2012-11-30 2012-11-30 2023-01-20 283638 ENSG00000099814 OTTHUMG00000170763 uc010axb.4 AB006622 NM_001112726 "CCDS45176|CCDS45175" Q9Y4F5 23087211 MGI:2145043 RGD:1595689 620251 HGNC:20362 "ENST00000414716.8|NM_001112726.3" HGNC:28364 CEP170P1 centrosomal protein 170 pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 "MGC26143|FAM68B" "KIAA0470L|CEP170L" "KIAA0470-like|centrosomal protein 170kDa-like|centrosomal protein 170kDa pseudogene 1" 2005-05-16 2010-10-11 2016-03-30 2020-04-20 645455 ENSG00000154608 OTTHUMG00000132958 BC014590 NR_003135.2 Q96L14 PGOHUM00000250791 HGNC:28364 HGNC:25515 CEP192 centrosomal protein 192 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "KIAA1569|FLJ10352|PPP1R62" protein phosphatase 1, regulatory subunit 62 centrosomal protein 192kDa Protein phosphatase 1 regulatory subunits 694 2005-12-01 2016-03-30 2023-01-20 55125 ENSG00000101639 OTTHUMG00000160693 uc060npo.1 AK074074 NM_032142 CCDS32792 Q8TEP8 "11230166|14654843" MGI:1918049 RGD:1562797 616426 HGNC:25515 "ENST00000506447.5|NM_032142.4" @@ -4383,9 +4383,9 @@ HGNC:44659 CEP295NL CEP295 N-terminal like protein-coding gene gene with protein HGNC:24238 CEP350 centrosomal protein 350 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "KIAA0480|CAP350" centrosome associated protein 350 centrosomal protein 350kDa 2006-02-15 2016-03-30 2023-01-20 9857 ENSG00000135837 OTTHUMG00000035269 uc001gnt.4 AF287356 NM_014810 CCDS1336 Q5VT06 "16314388|15615782" MGI:1921331 RGD:621162 617870 HGNC:24238 "ENST00000367607.8|NM_014810.5" HGNC:24289 CEPT1 choline/ethanolamine phosphotransferase 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 2004-11-16 2023-01-20 10390 ENSG00000134255 OTTHUMG00000012357 uc001eah.1 AF068302 NM_006090 "CCDS91024|CCDS830" Q9Y6K0 "10191259|12216837" MGI:2139793 RGD:1359727 616751 "2.7.8.1|2.7.8.2" HGNC:24289 "ENST00000357172.9|NM_006090.5" HGNC:1862 CER1 cerberus 1, DAN family BMP antagonist protein-coding gene gene with protein product Approved 9p22.3 09p22.3 DAND4 "cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)|cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)" DAN family 1246 1998-09-25 2013-02-26 2023-01-20 9350 ENSG00000147869 OTTHUMG00000021022 uc003zlj.4 AF090189 NM_005454 CCDS6476 O95813 10049596 MGI:1201414 RGD:1563046 603777 HGNC:1862 "ENST00000380911.4|NM_005454.3" -HGNC:23723 CERCAM cerebral endothelial cell adhesion molecule protein-coding gene gene with protein product Approved 9q34.11 09q34.11 GLT25D3 glycosyltransferase 25 domain containing 3 CEECAM1 cerebral cell adhesion molecule 2003-12-04 2007-10-17 2007-10-17 2023-01-20 51148 ENSG00000167123 OTTHUMG00000020747 uc004buz.5 AB040935 NM_016174 "CCDS69675|CCDS6901" Q5T4B2 10608765 MGI:2139134 RGD:1304778 616626 HGNC:23723 "ENST00000372838.9|NM_016174.5" +HGNC:23723 CERCAM cerebral endothelial cell adhesion molecule protein-coding gene gene with protein product Approved 9q34.11 09q34.11 GLT25D3 glycosyltransferase 25 domain containing 3 CEECAM1 cerebral cell adhesion molecule 2003-12-04 2007-10-17 2007-10-17 2023-01-20 51148 ENSG00000167123 OTTHUMG00000020747 uc004buz.5 AB040935 NM_016174 "CCDS6901|CCDS69675" Q5T4B2 10608765 MGI:2139134 RGD:1304778 616626 HGNC:23723 "ENST00000372838.9|NM_016174.5" HGNC:19256 CERK ceramide kinase protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "hCERK|FLJ23239|dA59H18.3|DKFZp434E0211|FLJ21430|KIAA1646|LK4|dA59H18.2" 2002-10-09 2023-01-20 64781 ENSG00000100422 OTTHUMG00000150395 uc003bia.4 AB079066 NM_022766 CCDS14077 Q8TCT0 "11956206|11258795|19168031" MGI:2386052 RGD:1305019 610307 objectId:2473 2.7.1.138 HGNC:19256 "ENST00000216264.13|NM_022766.6" -HGNC:21699 CERKL ceramide kinase like protein-coding gene gene with protein product Approved 2q31.3 02q31.3 RP26 "retinitis pigmentosa 26 (autosomal recessive)|ceramide kinase-like" 2004-11-26 2015-11-12 2023-01-20 375298 ENSG00000188452 OTTHUMG00000154315 uc010zfm.3 BC020465 NM_001030311 "CCDS46466|CCDS33340|CCDS42789|CCDS54425|CCDS33341" Q49MI3 "14681825|30205735" MGI:3037816 RGD:1561057 608381 119354 HGNC:21699 "ENST00000410087.8|NM_201548.5" HGNC:21699 +HGNC:21699 CERKL ceramide kinase like protein-coding gene gene with protein product Approved 2q31.3 02q31.3 RP26 "retinitis pigmentosa 26 (autosomal recessive)|ceramide kinase-like" 2004-11-26 2015-11-12 2023-01-20 375298 ENSG00000188452 OTTHUMG00000154315 uc010zfm.3 BC020465 NM_001030311 "CCDS42789|CCDS33340|CCDS54425|CCDS33341|CCDS46466" Q49MI3 "14681825|30205735" MGI:3037816 RGD:1561057 608381 119354 HGNC:21699 "ENST00000410087.8|NM_201548.5" HGNC:21699 HGNC:52664 CERNA1 competing endogenous lncRNA 1 for miR-4707-5p and miR-4767 non-coding RNA RNA, long non-coding Approved 15q21.2 15q21.2 LOC100129973 Long non-coding RNAs with non-systematic symbols 1992 2017-01-04 2017-08-16 100129973 ENSG00000259577 OTTHUMG00000172601 NR_102751 "26887505|28797257" HGNC:52664 HGNC:51354 CERNA2 competing endogenous lncRNA 2 for microRNA let-7b non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 HOST2 human ovarian cancer specific transcript 2 Long non-coding RNAs with non-systematic symbols 1992 2017-04-27 2020-01-06 642934 ENSG00000285972 "BC033760|BC051760" NR_134505 "25292198|28143959" 617434 HGNC:51354 HGNC:53469 CERNA3 competing endogenous lncRNA 3 for miR-645 non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 CTA Long non-coding RNAs with non-systematic symbols 1992 2017-05-11 2017-05-11 105375847 ENSG00000253603 OTTHUMG00000164298 NR_149110 28415557 HGNC:53469 @@ -4396,59 +4396,59 @@ HGNC:23752 CERS3 ceramide synthase 3 protein-coding gene gene with protein produ HGNC:51431 CERS3-AS1 CERS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Antisense RNAs 1987 2014-11-26 2014-11-26 102723320 ENSG00000259430 OTTHUMG00000172308 "AL708976|AI160488" NR_120374 CERS3-AS1 HGNC:51431 HGNC:23747 CERS4 ceramide synthase 4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ12089|Trh1" LASS4 "LAG1 longevity assurance homolog 4 (S. cerevisiae)|LAG1 homolog, ceramide synthase 4" CERS class homeoboxes 530 2003-12-11 2011-07-08 2011-07-08 2023-01-20 79603 ENSG00000090661 OTTHUMG00000172570 uc002mjg.4 NM_024552 CCDS12197 Q9HA82 MGI:1914510 RGD:1309303 615334 8573 objectId:2477 HGNC:23747 "ENST00000251363.10|NM_024552.3" HGNC:23749 CERS5 ceramide synthase 5 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "Trh4|MGC45411|FLJ25304" LASS5 "LAG1 longevity assurance homolog 5 (S. cerevisiae)|LAG1 homolog, ceramide synthase 5" CERS class homeoboxes 530 2003-12-11 2011-07-08 2011-07-08 2023-01-20 91012 ENSG00000139624 OTTHUMG00000169819 uc001rwd.6 NM_147190 "CCDS61120|CCDS8801" Q8N5B7 MGI:1919199 RGD:1311597 615335 8573 objectId:2478 HGNC:23749 "ENST00000317551.12|NM_147190.5" -HGNC:23826 CERS6 ceramide synthase 6 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 LASS6 "LAG1 longevity assurance homolog 6 (S. cerevisiae)|LAG1 homolog, ceramide synthase 6" "CERS class homeoboxes|MicroRNA protein coding host genes" "530|1691" 2004-04-30 2011-07-08 2011-07-08 2023-01-20 253782 ENSG00000172292 OTTHUMG00000132183 uc002ueb.3 BX393696 NM_203463 "CCDS2228|CCDS58734" Q6ZMG9 MGI:2442564 RGD:1561599 615336 8573 objectId:2479 HGNC:23826 "ENST00000305747.11|NM_203463.3" +HGNC:23826 CERS6 ceramide synthase 6 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 LASS6 "LAG1 longevity assurance homolog 6 (S. cerevisiae)|LAG1 homolog, ceramide synthase 6" "CERS class homeoboxes|MicroRNA protein coding host genes" "530|1691" 2004-04-30 2011-07-08 2011-07-08 2023-01-20 253782 ENSG00000172292 OTTHUMG00000132183 uc002ueb.3 BX393696 NM_203463 "CCDS58734|CCDS2228" Q6ZMG9 MGI:2442564 RGD:1561599 615336 8573 objectId:2479 HGNC:23826 "ENST00000305747.11|NM_203463.3" HGNC:44485 CERS6-AS1 CERS6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.3 02q24.3 Antisense RNAs 1987 2012-11-08 2012-11-08 100861402 ENSG00000227617 OTTHUMG00000153980 uc061pgi.1 NR_045786 CERS6-AS1 HGNC:44485 -HGNC:2205 CERT1 ceramide transporter 1 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "GPBP|STARD11|CERT" "ceramide transporter|StAR-related lipid transfer (START) domain containing 11" COL4A3BP "collagen, type IV, alpha 3 (Goodpasture antigen) binding protein|collagen type IV alpha 3 binding protein" "Pleckstrin homology domain containing|StAR related lipid transfer domain containing" "682|759" 1999-07-14 2019-06-10 2019-06-10 2023-01-20 10087 ENSG00000113163 OTTHUMG00000102068 uc011csu.3 AF136450 NM_005713 "CCDS93736|CCDS4028|CCDS4029|CCDS47235" Q9Y5P4 "14685229|10212244" MGI:1915268 RGD:1309131 604677 470110 HGNC:2205 "ENST00000643780.2|NM_001379029.1" HGNC:2205 -HGNC:1863 CES1 carboxylesterase 1 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "HMSE|CES2|HMSE1|SES1|CEH|CES1A1|CES1A2" human monocyte/macrophage serine esterase 1 carboxylesterase 1 (monocyte/macrophage serine esterase 1) Carboxylesterases 461 1991-08-07 2010-10-12 2023-01-20 1066 ENSG00000198848 OTTHUMG00000176718 uc002eil.4 BC012418 NM_001266 "CCDS45488|CCDS45489|CCDS32450" P23141 "2070086|20931200" "MGI:1922954|MGI:2142687|MGI:2148202|MGI:3648919|MGI:3779470|MGI:88378|MGI:95420|MGI:95432" RGD:70896 114835 470068 S09.982 objectId:2592 3.1.1.1 HGNC:1863 "ENST00000360526.8|NM_001025195.2" +HGNC:2205 CERT1 ceramide transporter 1 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "GPBP|STARD11|CERT" "ceramide transporter|StAR-related lipid transfer (START) domain containing 11" COL4A3BP "collagen, type IV, alpha 3 (Goodpasture antigen) binding protein|collagen type IV alpha 3 binding protein" "Pleckstrin homology domain containing|StAR related lipid transfer domain containing" "682|759" 1999-07-14 2019-06-10 2019-06-10 2023-01-20 10087 ENSG00000113163 OTTHUMG00000102068 uc011csu.3 AF136450 NM_005713 "CCDS4029|CCDS93736|CCDS4028|CCDS47235" Q9Y5P4 "14685229|10212244" MGI:1915268 RGD:1309131 604677 470110 HGNC:2205 "ENST00000643780.2|NM_001379029.1" HGNC:2205 +HGNC:1863 CES1 carboxylesterase 1 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "HMSE|CES2|HMSE1|SES1|CEH|CES1A1|CES1A2" human monocyte/macrophage serine esterase 1 carboxylesterase 1 (monocyte/macrophage serine esterase 1) Carboxylesterases 461 1991-08-07 2010-10-12 2023-01-20 1066 ENSG00000198848 OTTHUMG00000176718 uc002eil.4 BC012418 NM_001266 "CCDS45488|CCDS32450|CCDS45489" P23141 "2070086|20931200" "MGI:1922954|MGI:2142687|MGI:2148202|MGI:3648919|MGI:3779470|MGI:88378|MGI:95420|MGI:95432" RGD:70896 114835 470068 S09.982 objectId:2592 3.1.1.1 HGNC:1863 "ENST00000360526.8|NM_001025195.2" HGNC:18546 CES1P1 carboxylesterase 1 pseudogene 1 pseudogene pseudogene Approved 16q12.2 16q12.2 "PCE-3|CESR|CES1A3" CES4 "carboxylesterase 4-like|carboxylesterase 4, pseudogene" 2004-02-20 2010-10-12 2010-10-12 2013-07-10 51716 ENSG00000228695 OTTHUMG00000154668 AF106005 NR_003276 Q9UKY3 "10452915|20931200" PGOHUM00000250685 S09.986 HGNC:18546 HGNC:48928 CES1P2 carboxylesterase 1 pseudogene 2 pseudogene pseudogene Approved 16q12.2 16q12.2 2013-07-10 2013-07-10 390732 ENSG00000260765 OTTHUMG00000176717 NR_033740 PGOHUM00000250684 HGNC:48928 HGNC:1864 CES2 carboxylesterase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CE-2|iCE|CES2A1" carboxylesterase 2 (intestine, liver) Carboxylesterases 461 1993-09-30 2010-10-12 2023-01-20 8824 ENSG00000172831 OTTHUMG00000137517 uc002eqr.4 BC032095 NM_003869 "CCDS10825|CCDS45507" O00748 "9169443|9144407|20931200" "MGI:1919153|MGI:1919611|MGI:2142491|MGI:2385905|MGI:2443170|MGI:2448547|MGI:3648740" RGD:1560889 605278 470070 HGNC:1864 "ENST00000317091.10|NM_001365405.1" -HGNC:1865 CES3 carboxylesterase 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ21736|ES31" "esterase 31|brain carboxylesterase BR3" carboxylesterase 3 (brain) Carboxylesterases 461 1999-12-14 2008-07-25 2023-01-20 23491 ENSG00000172828 OTTHUMG00000137525 uc002eqt.4 AK025389 NM_024922 "CCDS54022|CCDS54023|CCDS10826" Q6UWW8 "10518925|14581373|15100172|20931200" "MGI:102773|MGI:3644960" RGD:1588734 605279 HGNC:1865 "ENST00000303334.9|NM_024922.6" -HGNC:26741 CES4A carboxylesterase 4A protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ37464 CES8 carboxylesterase 8 (putative) Carboxylesterases 461 2009-01-27 2010-10-12 2010-10-12 2023-01-20 283848 ENSG00000172824 OTTHUMG00000167866 uc010vix.3 AK094783 NM_173815 "CCDS54024|CCDS42174|CCDS92173|CCDS54025" Q5XG92 "12975309|17364878|20931200" MGI:2384581 RGD:1307418 HGNC:26741 "ENST00000648724.3|NM_001364782.1" -HGNC:26459 CES5A carboxylesterase 5A protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "FLJ31547|CES4C1|CES5|CAUXIN" CES7 carboxylesterase 7 Carboxylesterases 461 2005-10-06 2010-10-12 2010-10-12 2023-01-20 221223 ENSG00000159398 OTTHUMG00000133236 uc002eip.3 AK090997 NM_145024 "CCDS45490|CCDS10755|CCDS54012" Q6NT32 20931200 MGI:1915185 RGD:1549717 618678 S09.960 3.1.1.1 HGNC:26459 "ENST00000290567.14|NM_001143685.2" +HGNC:1865 CES3 carboxylesterase 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ21736|ES31" "esterase 31|brain carboxylesterase BR3" carboxylesterase 3 (brain) Carboxylesterases 461 1999-12-14 2008-07-25 2023-01-20 23491 ENSG00000172828 OTTHUMG00000137525 uc002eqt.4 AK025389 NM_024922 "CCDS54022|CCDS10826|CCDS54023" Q6UWW8 "10518925|14581373|15100172|20931200" "MGI:102773|MGI:3644960" RGD:1588734 605279 HGNC:1865 "ENST00000303334.9|NM_024922.6" +HGNC:26741 CES4A carboxylesterase 4A protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ37464 CES8 carboxylesterase 8 (putative) Carboxylesterases 461 2009-01-27 2010-10-12 2010-10-12 2023-01-20 283848 ENSG00000172824 OTTHUMG00000167866 uc010vix.3 AK094783 NM_173815 "CCDS54025|CCDS54024|CCDS42174|CCDS92173" Q5XG92 "12975309|17364878|20931200" MGI:2384581 RGD:1307418 HGNC:26741 "ENST00000648724.3|NM_001364782.1" +HGNC:26459 CES5A carboxylesterase 5A protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "FLJ31547|CES4C1|CES5|CAUXIN" CES7 carboxylesterase 7 Carboxylesterases 461 2005-10-06 2010-10-12 2010-10-12 2023-01-20 221223 ENSG00000159398 OTTHUMG00000133236 uc002eip.3 AK090997 NM_145024 "CCDS10755|CCDS45490|CCDS54012" Q6NT32 20931200 MGI:1915185 RGD:1549717 618678 S09.960 3.1.1.1 HGNC:26459 "ENST00000290567.14|NM_001143685.2" HGNC:38516 CES5AP1 carboxylesterase 5A pseudogene 1 pseudogene pseudogene Approved 22q11.23 22q11.23 2010-10-12 2014-11-19 649264 ENSG00000215478 OTTHUMG00000150651 NR_037839 PGOHUM00000246278 HGNC:38516 HGNC:1866 CETN1 centrin 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 CEN1 CETN centrin, EF-hand protein, 1 EF-hand domain containing 863 1996-10-30 2015-11-13 2023-01-20 1068 ENSG00000177143 OTTHUMG00000131471 uc002kko.2 U03270 NM_004066 CCDS11820 Q12798 8175926 MGI:1347086 RGD:620246 603187 HGNC:1866 "ENST00000327228.5|NM_004066.3" HGNC:1867 CETN2 centrin 2 protein-coding gene gene with protein product Approved Xq28 Xq28 CEN2 CALT centrin, EF-hand protein, 2 "EF-hand domain containing|Nucleotide excision repair|Transcription and export complex 2" "863|1269|1276" 1997-03-21 2015-11-13 2023-01-20 1069 ENSG00000147400 OTTHUMG00000024246 uc004fgq.4 X72964 NM_004344 CCDS14716 P41208 "7713520|8597638|18387345" MGI:1347085 RGD:620247 300006 HGNC:1867 "ENST00000370277.5|NM_004344.3" -HGNC:1868 CETN3 centrin 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 CEN3 "CDC31 yeast homolog|EF-hand superfamily member" "centrin, EF-hand protein, 3 (CDC31 yeast homolog)|centrin, EF-hand protein, 3" EF-hand domain containing 863 1997-08-22 2015-11-13 2023-01-20 1070 ENSG00000153140 OTTHUMG00000131326 uc003kjo.4 Y12473 NM_004365 "CCDS78036|CCDS75274|CCDS4066" O15182 9256449 MGI:1097706 RGD:620249 602907 HGNC:1868 "ENST00000283122.8|NM_004365.4" +HGNC:1868 CETN3 centrin 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 CEN3 "CDC31 yeast homolog|EF-hand superfamily member" "centrin, EF-hand protein, 3 (CDC31 yeast homolog)|centrin, EF-hand protein, 3" EF-hand domain containing 863 1997-08-22 2015-11-13 2023-01-20 1070 ENSG00000153140 OTTHUMG00000131326 uc003kjo.4 Y12473 NM_004365 "CCDS4066|CCDS75274|CCDS78036" O15182 9256449 MGI:1097706 RGD:620249 602907 HGNC:1868 "ENST00000283122.8|NM_004365.4" HGNC:35450 CETN4P centrin 4, pseudogene pseudogene pseudogene Approved 4q27 04q27 centrin EF-hand protein 4, pseudogene 2010-03-12 2015-11-13 2020-08-14 729338 ENSG00000224786 OTTHUMG00000150126 NR_024041 MGI:2677454 PGOHUM00000245685 HGNC:35450 -HGNC:1869 CETP cholesteryl ester transfer protein protein-coding gene gene with protein product Approved 16q13 16q13 BPIFF BPI fold containing family F cholesteryl ester transfer protein, plasma BPI fold containing 456 2001-06-22 2016-03-17 2023-01-20 1071 ENSG00000087237 OTTHUMG00000133279 uc002eki.3 M30185 NM_000078 "CCDS67032|CCDS10772" P11597 "3600759|2334701" 118470 119357 HGNC:1869 "ENST00000200676.8|NM_000078.3" HGNC:1869 +HGNC:1869 CETP cholesteryl ester transfer protein protein-coding gene gene with protein product Approved 16q13 16q13 BPIFF BPI fold containing family F cholesteryl ester transfer protein, plasma BPI fold containing 456 2001-06-22 2016-03-17 2023-01-20 1071 ENSG00000087237 OTTHUMG00000133279 uc002eki.3 M30185 NM_000078 "CCDS10772|CCDS67032" P11597 "3600759|2334701" 118470 119357 HGNC:1869 "ENST00000200676.8|NM_000078.3" HGNC:1869 HGNC:29523 CFAP20 cilia and flagella associated protein 20 protein-coding gene gene with protein product Approved 16q21 16q21 "GTL3|fSAP23" "functional spliceosome-associated protein 23|flagellar associated protein 20 homolog (Chlamydomonas)" C16orf80 chromosome 16 open reading frame 80 Cilia and flagella associated 1491 2006-08-22 2014-07-03 2014-07-03 2023-01-20 29105 ENSG00000070761 OTTHUMG00000133490 BC005152 NM_013242 CCDS10793 Q9Y6A4 8688464 MGI:107428 RGD:1308493 617906 HGNC:29523 "ENST00000262498.8|NM_013242.3" HGNC:24763 CFAP20DC CFAP20 domain containing protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "FLJ42117|FLJ42930" C3orf67 chromosome 3 open reading frame 67 2007-12-14 2020-02-03 2020-02-03 2023-01-20 200844 ENSG00000163689 OTTHUMG00000159151 uc003dkt.2 AK124920 NM_198463 "CCDS93302|CCDS33776" Q6ZVT6 MGI:1926154 RGD:1359720 HGNC:24763 "ENST00000482387.7|NM_001394063.1" HGNC:41063 CFAP20DC-AS1 CFAP20DC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.2 03p14.2 C3orf67-AS1 C3orf67 antisense RNA 1 Antisense RNAs 1987 2014-04-07 2020-02-03 2020-02-03 2020-02-03 101929238 ENSG00000242428 OTTHUMG00000159203 AK090895 NR_110820 C3orf67-AS1 HGNC:41063 HGNC:55618 CFAP20DC-DT CFAP20DC divergent transcript non-coding RNA RNA, long non-coding Approved 3p14.2 03p14.2 Divergent transcripts 1990 2021-06-21 2021-06-21 105377110 ENSG00000243295 XR_002959675 -HGNC:30540 CFAP36 cilia and flagella associated protein 36 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "MGC15407|BARTL1" CCDC104 coiled-coil domain containing 104 Cilia and flagella associated 1491 2006-05-02 2014-08-13 2014-08-13 2023-01-20 112942 ENSG00000163001 OTTHUMG00000129339 BC010011 NM_080667 "CCDS62911|CCDS1854" Q96G28 "19680650|26455799" MGI:1913994 RGD:1311732 HGNC:30540 "ENST00000349456.9|NM_080667.7" +HGNC:30540 CFAP36 cilia and flagella associated protein 36 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "MGC15407|BARTL1" CCDC104 coiled-coil domain containing 104 Cilia and flagella associated 1491 2006-05-02 2014-08-13 2014-08-13 2023-01-20 112942 ENSG00000163001 OTTHUMG00000129339 BC010011 NM_080667 "CCDS1854|CCDS62911" Q96G28 "19680650|26455799" MGI:1913994 RGD:1311732 HGNC:30540 "ENST00000349456.9|NM_080667.7" HGNC:26684 CFAP43 cilia and flagella associated protein 43 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "FLJ36006|bA373N18.2|FLJ22944" "C10orf79|WDR96" "chromosome 10 open reading frame 79|WD repeat domain 96" "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2004-04-23 2014-07-18 2014-07-18 2023-01-20 80217 ENSG00000197748 OTTHUMG00000019002 AL833836 NM_025145 CCDS31281 Q8NDM7 14702039 MGI:1289258 RGD:1560545 617558 HGNC:26684 "ENST00000357060.8|NM_025145.7" HGNC:26684 -HGNC:25631 CFAP44 cilia and flagella associated protein 44 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ11142 WDR52 WD repeat domain 52 "WD repeat domain containing|Cilia and flagella associated|MicroRNA protein coding host genes" "362|1491|1691" 2005-02-01 2014-07-18 2014-07-18 2023-01-20 55779 ENSG00000206530 OTTHUMG00000159259 AK002004 NM_018338 "CCDS54624|CCDS2972" Q96MT7 28887034 MGI:1277238 RGD:1559942 617559 HGNC:25631 "ENST00000393845.9|NM_001164496.2" HGNC:25631 +HGNC:25631 CFAP44 cilia and flagella associated protein 44 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ11142 WDR52 WD repeat domain 52 "WD repeat domain containing|Cilia and flagella associated|MicroRNA protein coding host genes" "362|1491|1691" 2005-02-01 2014-07-18 2014-07-18 2023-01-20 55779 ENSG00000206530 OTTHUMG00000159259 AK002004 NM_018338 "CCDS2972|CCDS54624" Q96MT7 28887034 MGI:1277238 RGD:1559942 617559 HGNC:25631 "ENST00000393845.9|NM_001164496.2" HGNC:25631 HGNC:41113 CFAP44-AS1 CFAP44 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 WDR52-AS1 "WDR52 antisense RNA 1 (non-protein coding)|WDR52 antisense RNA 1" Antisense RNAs 1987 2011-07-25 2014-07-18 2014-07-18 2014-11-18 100874029 ENSG00000243849 OTTHUMG00000159300 NR_046728 CFAP44-AS1 HGNC:41113 HGNC:17229 CFAP45 cilia and flagella associated protein 45 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 NESG1 CCDC19 coiled-coil domain containing 19 Cilia and flagella associated 1491 2005-07-07 2014-08-13 2014-08-13 2023-01-20 25790 ENSG00000213085 OTTHUMG00000035432 AF094758 NM_012337 CCDS30914 Q9UL16 "10524255|20715168" MGI:1919120 RGD:1561559 605152 HGNC:17229 "ENST00000368099.9|NM_012337.3" HGNC:25247 CFAP46 cilia and flagella associated protein 46 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "DKFZp434A1721|bA288G11.4|bA288G11.5|bB137A17.2|FLJ25954|bB137A17.3" "C10orf123|C10orf124|C10orf93|C10orf92|TTC40" "chromosome 10 open reading frame 123|chromosome 10 open reading frame 124|chromosome 10 open reading frame 93|chromosome 10 open reading frame 92|tetratricopeptide repeat domain 40" "Tetratricopeptide repeat domain containing|Cilia and flagella associated" "769|1491" 2004-03-16 2014-07-18 2014-07-18 2023-03-15 54777 ENSG00000171811 OTTHUMG00000019292 BC034223 NM_001200049 CCDS58101 Q8IYW2 11230166 MGI:2444387 RGD:1559985 618543 HGNC:25247 "ENST00000368586.10|NM_001200049.3" HGNC:26708 CFAP47 cilia and flagella associated protein 47 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 "FLJ36601|RP13-11B7.1|MGC34831" "CXorf59|CXorf22|CXorf30|CHDC2" "chromosome X open reading frame 59|chromosome X open reading frame 22|chromosome X open reading frame 30|calponin homology domain containing 2" Cilia and flagella associated 1491 2006-07-11 2015-02-03 2015-02-03 2023-03-15 286464 ENSG00000165164 OTTHUMG00000021351 AK093920 NM_001304548 "CCDS14237|CCDS83464" Q6ZTR5 MGI:3781475 RGD:1587070 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf59 301057 HGNC:26708 "ENST00000378653.8|NM_001304548.2" -HGNC:16053 CFAP52 cilia and flagella associated protein 52 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "WDRPUH|FLJ37528" WD40-repeat protein upregulated in HCC WDR16 WD repeat domain 16 "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2001-07-16 2014-09-29 2014-09-29 2023-01-20 146845 ENSG00000166596 OTTHUMG00000150149 AB065281 NM_145054 "CCDS42262|CCDS11149" Q8N1V2 15967112 MGI:1919110 RGD:1308151 609804 440240 HGNC:16053 "ENST00000352665.10|NM_145054.5" HGNC:16053 +HGNC:16053 CFAP52 cilia and flagella associated protein 52 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "WDRPUH|FLJ37528" WD40-repeat protein upregulated in HCC WDR16 WD repeat domain 16 "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2001-07-16 2014-09-29 2014-09-29 2023-01-20 146845 ENSG00000166596 OTTHUMG00000150149 AB065281 NM_145054 "CCDS11149|CCDS42262" Q8N1V2 15967112 MGI:1919110 RGD:1308151 609804 440240 HGNC:16053 "ENST00000352665.10|NM_145054.5" HGNC:16053 HGNC:26530 CFAP53 cilia and flagella associated protein 53 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 FLJ32743 CCDC11 coiled-coil domain containing 11 Cilia and flagella associated 1491 2005-01-11 2014-09-03 2014-09-03 2023-01-20 220136 ENSG00000172361 OTTHUMG00000132668 BC030606 NM_145020 CCDS11940 Q96M91 22577226 MGI:1921703 RGD:1306734 614759 306106 HGNC:26530 "ENST00000398545.5|NM_145020.5" HGNC:26530 HGNC:43919 CFAP53P1 CFAP53 pseudogene 1 pseudogene pseudogene Approved 5p13.1 05p13.1 CCDC11P1 coiled-coil domain containing 11 pseudogene 1 2012-05-04 2021-03-24 2021-03-24 2021-03-24 100129040 ENSG00000251515 OTTHUMG00000162073 NG_021844 PGOHUM00000235196 HGNC:43919 HGNC:26456 CFAP54 cilia and flagella associated protein 54 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FLJ31514|FLJ44112" "C12orf63|C12orf55" "chromosome 12 open reading frame 63|chromosome 12 open reading frame 55|cilia and flagella associated 54" Cilia and flagella associated 1491 2006-01-25 2014-09-04 2016-06-07 2023-01-20 144535 ENSG00000188596 OTTHUMG00000167566 AK056076 NM_001306084 CCDS76588 Q96N23 MGI:1922208 RGD:1565866 HGNC:26456 "ENST00000524981.9|NM_001306084.2" -HGNC:26485 CFAP57 cilia and flagella associated protein 57 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ32000 WDR65 WD repeat domain 65 "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2005-05-13 2014-08-12 2014-08-12 2023-01-20 149465 ENSG00000243710 OTTHUMG00000007285 AK056562 NM_152498 "CCDS72768|CCDS90934|CCDS479" Q96MR6 "21574244|22447971" MGI:2686209 RGD:1585948 614259 HGNC:26485 "ENST00000372492.9|NM_001378189.1" HGNC:26485 +HGNC:26485 CFAP57 cilia and flagella associated protein 57 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ32000 WDR65 WD repeat domain 65 "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2005-05-13 2014-08-12 2014-08-12 2023-01-20 149465 ENSG00000243710 OTTHUMG00000007285 AK056562 NM_152498 "CCDS479|CCDS90934|CCDS72768" Q96MR6 "21574244|22447971" MGI:2686209 RGD:1585948 614259 HGNC:26485 "ENST00000372492.9|NM_001378189.1" HGNC:26485 HGNC:26676 CFAP58 cilia and flagella associated protein 58 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "FLJ35908|bA554P13.1" "C10orf80|CCDC147" "chromosome 10 open reading frame 80|coiled-coil domain containing 147" Cilia and flagella associated 1491 2004-02-18 2014-07-31 2014-07-31 2023-01-20 159686 ENSG00000120051 OTTHUMG00000019007 BX641120 NM_001008723 CCDS31282 Q5T655 MGI:2685815 RGD:7656374 619129 HGNC:26676 "ENST00000369704.8|NM_001008723.2" HGNC:45243 CFAP58-DT CFAP58 divergent transcript non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 lncITPRIP-1 "CCDC147-AS1|CFAP58-AS1" "CCDC147 antisense RNA 1|CCDC147 antisense RNA 1 (head to head)|CFAP58 antisense RNA 1 (head to head)" Divergent transcripts 1990 2013-03-11 2018-03-22 2018-03-22 2018-06-15 100505869 ENSG00000231233 OTTHUMG00000019005 "BI551201|BX093559|DB476363" NR_108036 29899107 CFAP58-AS1 HGNC:45243 HGNC:15872 CFAP61 cilia and flagella associated protein 61 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "DKFZP434K156|dJ1002M8.3|CaM-IP3" hypothetical protein LOC26074 C20orf26 chromosome 20 open reading frame 26 Cilia and flagella associated 1491 2001-06-21 2014-07-31 2014-07-31 2023-01-20 26074 ENSG00000089101 OTTHUMG00000032006 AL117439 NM_015585 "CCDS54452|CCDS33447" Q8NHU2 "11780052|17967944" MGI:1926024 RGD:1311519 620381 HGNC:15872 "ENST00000245957.10|NM_015585.4" HGNC:40731 CFAP61-AS1 CFAP61 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 Antisense RNAs 1987 2019-07-24 2019-07-24 101929575 ENSG00000243810 OTTHUMG00000159256 NR_183978 HGNC:40731 -HGNC:25325 CFAP65 cilia and flagella associated protein 65 protein-coding gene gene with protein product Approved 2q35 02q35 "DKFZp434O0527|MGC35338" CCDC108 coiled-coil domain containing 108 Cilia and flagella associated 1491 2006-05-18 2015-10-23 2015-10-23 2023-01-20 255101 ENSG00000181378 OTTHUMG00000133013 uc002vjl.3 "AL833882|AK127189" NM_194302 "CCDS63126|CCDS2431|CCDS63125|CCDS2430" Q6ZU64 22761584 MGI:2444274 RGD:1563002 614270 HGNC:25325 "ENST00000341552.10|NM_194302.4" HGNC:25325 -HGNC:1163 CFAP68 cilia and flagella associated protein 68 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 FLJ23499 C11orf1 chromosome 11 open reading frame 1 1998-08-06 2022-09-29 2022-09-29 2023-01-20 64776 ENSG00000137720 OTTHUMG00000166884 uc001pmd.4 AJ250229 NM_022761 "CCDS8350|CCDS81625" Q9H5F2 10873569 MGI:1915971 RGD:1564937 HGNC:1163 "ENST00000260276.8|NM_022761.3" +HGNC:25325 CFAP65 cilia and flagella associated protein 65 protein-coding gene gene with protein product Approved 2q35 02q35 "DKFZp434O0527|MGC35338" CCDC108 coiled-coil domain containing 108 Cilia and flagella associated 1491 2006-05-18 2015-10-23 2015-10-23 2023-01-20 255101 ENSG00000181378 OTTHUMG00000133013 uc002vjl.3 "AL833882|AK127189" NM_194302 "CCDS63125|CCDS2431|CCDS63126|CCDS2430" Q6ZU64 22761584 MGI:2444274 RGD:1563002 614270 HGNC:25325 "ENST00000341552.10|NM_194302.4" HGNC:25325 +HGNC:1163 CFAP68 cilia and flagella associated protein 68 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 FLJ23499 C11orf1 chromosome 11 open reading frame 1 1998-08-06 2022-09-29 2022-09-29 2023-01-20 64776 ENSG00000137720 OTTHUMG00000166884 uc001pmd.4 AJ250229 NM_022761 "CCDS81625|CCDS8350" Q9H5F2 10873569 MGI:1915971 RGD:1564937 HGNC:1163 "ENST00000260276.8|NM_022761.3" HGNC:26107 CFAP69 cilia and flagella associated protein 69 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 "FLJ21062|FAP69" "hypothetical protein FLJ21062|flagellar protein 69 homolog (Chlamydomonas)" C7orf63 chromosome 7 open reading frame 63 "Cilia and flagella associated|Armadillo like helical domain containing" "1491|1492" 2008-07-21 2014-07-31 2014-07-31 2023-03-15 79846 ENSG00000105792 OTTHUMG00000023434 "AK024715|AY349356" NM_001039706 "CCDS55122|CCDS43613" A5D8W1 29606301 MGI:2443778 RGD:6496360 617949 HGNC:26107 "ENST00000389297.8|NM_001039706.3" HGNC:26107 HGNC:50809 CFAP69P1 CFAP69 pseudogene 1 pseudogene pseudogene Approved 16q13 16q13 2023-05-05 2023-05-05 100130044 ENSG00000259922 OTTHUMG00000175514 NG_022505 PGOHUM00000248898 -HGNC:30726 CFAP70 cilia and flagella associated protein 70 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ25765 TTC18 tetratricopeptide repeat domain 18 "Tetratricopeptide repeat domain containing|Cilia and flagella associated" "769|1491" 2004-04-22 2014-09-03 2014-09-03 2023-03-15 118491 ENSG00000156042 OTTHUMG00000018459 AF435959 NM_145170 "CCDS91262|CCDS91264|CCDS91263" Q5T0N1 MGI:1923920 RGD:1307577 618661 HGNC:30726 "ENST00000355577.9|NM_001367801.1" HGNC:30726 +HGNC:30726 CFAP70 cilia and flagella associated protein 70 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ25765 TTC18 tetratricopeptide repeat domain 18 "Tetratricopeptide repeat domain containing|Cilia and flagella associated" "769|1491" 2004-04-22 2014-09-03 2014-09-03 2023-03-15 118491 ENSG00000156042 OTTHUMG00000018459 AF435959 NM_145170 "CCDS91264|CCDS91263|CCDS91262" Q5T0N1 MGI:1923920 RGD:1307577 618661 HGNC:30726 "ENST00000355577.9|NM_001367801.1" HGNC:30726 HGNC:37100 CFAP73 cilia and flagella associated protein 73 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 MIA2 CCDC42B coiled-coil domain containing 42B Cilia and flagella associated 1491 2009-06-19 2015-10-13 2015-10-13 2023-01-20 387885 ENSG00000186710 OTTHUMG00000169655 NM_001144872 CCDS44983 A6NFT4 23569216 MGI:3779542 RGD:1561303 HGNC:37100 "ENST00000335621.11|NM_001144872.3" HGNC:29368 CFAP74 cilia and flagella associated protein 74 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ45476 "C1orf222|KIAA1751" "chromosome 1 open reading frame 222|KIAA1751" Cilia and flagella associated 1491 2005-05-16 2014-09-04 2014-09-04 2023-03-15 85452 ENSG00000142609 OTTHUMG00000000945 AB051538 NM_001304360 CCDS90840 Q9C0B2 MGI:1917130 RGD:2324110 620187 HGNC:29368 "ENST00000682832.2|NM_001304360.2" HGNC:33776 CFAP77 cilia and flagella associated protein 77 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 FLJ46082 C9orf171 chromosome 9 open reading frame 171 Cilia and flagella associated 1491 2009-03-05 2015-10-06 2015-10-06 2023-01-20 389799 ENSG00000188523 OTTHUMG00000131684 AK128819 NM_207417 "CCDS65167|CCDS6949" Q6ZQR2 25169055 MGI:2685669 RGD:1564114 HGNC:33776 "ENST00000393216.3|NM_001282957.2" HGNC:27028 CFAP90 cilia and flagella associated protein 90 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 LOC134121 C5orf49 chromosome 5 open reading frame 49 2008-07-14 2022-09-29 2022-09-29 2023-01-20 134121 ENSG00000215217 OTTHUMG00000161897 uc003jea.7 NM_001089584 CCDS43300 A4QMS7 23169490 MGI:1916565 RGD:1308544 HGNC:27028 "ENST00000399810.7|NM_001089584.3" HGNC:24010 CFAP91 cilia and flagella associated protein 91 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "AAT1|AAT1alpha|SPATA26|CaM-IP2|AAT-1" "AMY-1-associating protein expressed in testis 1|MYCBP-binding protein|spermatogenesis associated 26" "C3orf15|MAATS1" "chromosome 3 open reading frame 15|MYCBP/AMY-1-associated, testis expressed 1|MYCBP-associated, testis expressed 1|MYCBP associated and testis expressed 1" 2004-07-26 2020-02-03 2020-02-03 2023-01-20 89876 ENSG00000183833 OTTHUMG00000159422 uc003ede.4 AB063296 NM_033364 CCDS2994 Q7Z4T9 "12223483|14551891|17967944" MGI:2443598 RGD:1305539 609910 HGNC:24010 "ENST00000273390.9|NM_033364.4" -HGNC:29231 CFAP92 cilia and flagella associated protein 92 (putative) protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "FLJ43738|FAP92" KIAA1257 KIAA1257 2005-03-01 2020-01-30 2020-01-31 2023-01-20 57501 ENSG00000114656 OTTHUMG00000159946 uc003elj.5 AB033083 NM_020741 "CCDS46905|CCDS93370|CCDS87133" Q9ULG3 10574462 MGI:3586838 RGD:2323785 HGNC:29231 "ENST00000645291.3|NM_001394090.1" +HGNC:29231 CFAP92 cilia and flagella associated protein 92 (putative) protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "FLJ43738|FAP92" KIAA1257 KIAA1257 2005-03-01 2020-01-30 2020-01-31 2023-01-20 57501 ENSG00000114656 OTTHUMG00000159946 uc003elj.5 AB033083 NM_020741 "CCDS87133|CCDS46905|CCDS93370" Q9ULG3 10574462 MGI:3586838 RGD:2323785 HGNC:29231 "ENST00000645291.3|NM_001394090.1" HGNC:31422 CFAP95 cilia and flagella associated protein 95 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 C9orf135 chromosome 9 open reading frame 135 2006-06-30 2021-09-02 2021-09-02 2023-01-20 138255 ENSG00000204711 OTTHUMG00000019985 uc004ahl.4 NM_001010940 "CCDS35041|CCDS78403" Q5VTT2 28345668 MGI:1914733 RGD:1560242 HGNC:31422 "ENST00000377197.8|NM_001010940.3" HGNC:48713 CFAP95-DT CFAP95 divergent transcript non-coding RNA RNA, long non-coding Approved 9q21.12 09q21.12 "C9orf135-AS1|C9orf135-DT" "C9orf135 antisense RNA 1 (head to head)|C9orf135 divergent transcript" Divergent transcripts 1990 2013-06-07 2021-09-09 2021-09-09 2021-09-09 494558 ENSG00000225626 OTTHUMG00000019983 NR_038833 C9orf135-AS1 HGNC:48713 HGNC:34346 CFAP96 cilia and flagella associated protein 96 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 LOC441054 C4orf47 chromosome 4 open reading frame 47 2008-07-18 2023-05-03 2023-05-03 2023-05-03 441054 ENSG00000205129 OTTHUMG00000160458 uc003ixt.3 "AY947525|BC127739|BC141967" NM_001114357 CCDS47169 A7E2U8 25074808 MGI:1916729 RGD:1564308 HGNC:34346 "ENST00000378850.5|NM_001114357.3" -HGNC:29276 CFAP97 cilia and flagella associated protein 97 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "DKFZp434F1728|hmw" KIAA1430 KIAA1430 Cilia and flagella associated 1491 2004-04-21 2014-07-31 2014-07-31 2023-01-20 57587 ENSG00000164323 OTTHUMG00000160468 AB037851 NM_020827 "CCDS47168|CCDS75216" Q9P2B7 "10718198|24554765|26638075" MGI:1914006 RGD:1307325 616047 HGNC:29276 "ENST00000458385.7|NM_020827.3" +HGNC:29276 CFAP97 cilia and flagella associated protein 97 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "DKFZp434F1728|hmw" KIAA1430 KIAA1430 Cilia and flagella associated 1491 2004-04-21 2014-07-31 2014-07-31 2023-01-20 57587 ENSG00000164323 OTTHUMG00000160468 AB037851 NM_020827 "CCDS75216|CCDS47168" Q9P2B7 "10718198|24554765|26638075" MGI:1914006 RGD:1307325 616047 HGNC:29276 "ENST00000458385.7|NM_020827.3" HGNC:37241 CFAP97D1 CFAP97 domain containing 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 C17orf105 chromosome 17 open reading frame 105 2009-09-09 2017-12-06 2017-12-06 2023-01-20 284067 ENSG00000231256 OTTHUMG00000180890 uc002ieg.4 NM_001136483 CCDS45695 B2RV13 MGI:1922687 RGD:1565533 619866 HGNC:37241 "ENST00000449302.8|NM_001136483.3" -HGNC:53789 CFAP97D2 CFAP97 domain containing 2 protein-coding gene gene with protein product Approved 13q34 13q34 2017-12-06 2023-01-20 101929355 ENSG00000283361 OTTHUMG00000191665 NM_001395229 "CCDS91844|CCDS91845" A0A1B0GU71 MGI:2685952 RGD:1584165 HGNC:53789 "ENST00000636692.2|NM_001395229.1" +HGNC:53789 CFAP97D2 CFAP97 domain containing 2 protein-coding gene gene with protein product Approved 13q34 13q34 2017-12-06 2023-01-20 101929355 ENSG00000283361 OTTHUMG00000191665 NM_001395229 "CCDS91845|CCDS91844" A0A1B0GU71 MGI:2685952 RGD:1584165 HGNC:53789 "ENST00000636692.2|NM_001395229.1" HGNC:54528 CFAP97P1 CFAP97 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 2019-10-11 2020-01-21 100418722 ENSG00000271164 NG_026926 HGNC:54528 HGNC:51180 CFAP99 cilia and flagella associated protein 99 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 Cilia and flagella associated 1491 2014-08-01 2023-03-15 402160 ENSG00000206113 OTTHUMG00000160515 NM_001193282 D6REC4 MGI:5434801 RGD:1564567 HGNC:51180 HGNC:26842 CFAP100 cilia and flagella associated protein 100 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "FLJ40083|MIA1" CCDC37 coiled-coil domain containing 37 Cilia and flagella associated 1491 2005-11-02 2015-10-13 2015-10-13 2023-01-20 348807 ENSG00000163885 OTTHUMG00000162691 AK097402 NM_182628 CCDS3037 Q494V2 23569216 MGI:2141635 RGD:1305768 HGNC:26842 "ENST00000352312.6|NM_182628.3" @@ -4464,26 +4464,26 @@ HGNC:21405 CFAP206 cilia and flagella associated protein 206 protein-coding gene HGNC:25064 CFAP210 cilia and flagella associated protein 210 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 LOC129881 hypothetical LOC129881 "C2orf77|CCDC173" "chromosome 2 open reading frame 77|coiled-coil domain containing 173" 2008-07-18 2021-08-19 2021-08-19 2023-01-20 129881 ENSG00000154479 OTTHUMG00000154116 uc002ufe.3 "BC015980|BC117445" NM_001085447 CCDS46445 Q0VFZ6 12477932 MGI:1923100 RGD:1308818 HGNC:25064 "ENST00000447353.6|NM_001085447.2" HGNC:33720 CFAP221 cilia and flagella associated protein 221 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "FAP221|PCDP1" "flagellar associated protein 221 homolog (Chlamydomonas)|primary ciliary dyskinesia 1 homolog (mouse)" Cilia and flagella associated 1491 2014-07-03 2023-01-20 200373 ENSG00000163075 OTTHUMG00000153310 NM_001271049 CCDS33282 Q4G0U5 "18039845|20421426" MGI:2684947 RGD:1584968 618704 HGNC:33720 "ENST00000413369.8|NM_001271049.2" HGNC:33720 HGNC:28506 CFAP251 cilia and flagella associated protein 251 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "MGC33630|CaM-IP4" WDR66 WD repeat domain 66 WD repeat domain containing 362 2005-05-26 2020-03-12 2020-03-12 2023-01-20 144406 ENSG00000158023 OTTHUMG00000168948 uc009zxk.4 AL833930 NM_144668 "CCDS53840|CCDS41853" Q8TBY9 17967944 MGI:1918495 RGD:1564948 618146 471334 HGNC:28506 "ENST00000288912.9|NM_144668.6" HGNC:28506 -HGNC:32331 CFAP276 cilia and flagella associated protein 276 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 C1orf194 chromosome 1 open reading frame 194 2006-06-30 2021-09-09 2021-09-09 2023-01-20 127003 ENSG00000179902 OTTHUMG00000011735 uc009wev.4 NM_001122961 "CCDS41364|CCDS91016|CCDS91015" Q5T5A4 31199454 MGI:1922754 RGD:1309139 618682 HGNC:32331 "ENST00000369948.8|NM_001245025.3" HGNC:32331 -HGNC:1301 CFAP298 cilia and flagella associated protein 298 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "FLJ20467|FBB18|CILD26|Kur|DNAAF16" "kurly homolog (zebrafish)|dynein axonemal assembly factor 16" "C21orf48|C21orf59" "chromosome 21 open reading frame 48|chromosome 21 open reading frame 59" "Cilia and flagella associated|Axonemal dynein assembly factors" "1491|1627" 2000-06-28 2018-02-02 2018-02-02 2023-03-15 56683 ENSG00000159079 OTTHUMG00000179510 uc002yqc.4 AF282851 NM_021254 "CCDS86984|CCDS86985|CCDS13617" P57076 "30228263|24094744|26904945" MGI:1915251 RGD:1306954 615494 367619 HGNC:1301 "ENST00000290155.8|NM_021254.4" HGNC:1301 +HGNC:32331 CFAP276 cilia and flagella associated protein 276 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 C1orf194 chromosome 1 open reading frame 194 2006-06-30 2021-09-09 2021-09-09 2023-01-20 127003 ENSG00000179902 OTTHUMG00000011735 uc009wev.4 NM_001122961 "CCDS41364|CCDS91015|CCDS91016" Q5T5A4 31199454 MGI:1922754 RGD:1309139 618682 HGNC:32331 "ENST00000369948.8|NM_001245025.3" HGNC:32331 +HGNC:1301 CFAP298 cilia and flagella associated protein 298 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "FLJ20467|FBB18|CILD26|Kur|DNAAF16" "kurly homolog (zebrafish)|dynein axonemal assembly factor 16" "C21orf48|C21orf59" "chromosome 21 open reading frame 48|chromosome 21 open reading frame 59" "Cilia and flagella associated|Axonemal dynein assembly factors" "1491|1627" 2000-06-28 2018-02-02 2018-02-02 2023-03-15 56683 ENSG00000159079 OTTHUMG00000179510 uc002yqc.4 AF282851 NM_021254 "CCDS13617|CCDS86985|CCDS86984" P57076 "30228263|24094744|26904945" MGI:1915251 RGD:1306954 615494 367619 HGNC:1301 "ENST00000290155.8|NM_021254.4" HGNC:1301 HGNC:54636 CFAP298-TCP10L CFAP298-TCP10L readthrough other readthrough Approved 21q22.11 21q22.11 FLJ10932 "LINC00846|C21orf77" "long intergenic non-protein coding RNA 846|chromosome 21 open reading frame 77" 2019-10-23 2020-01-22 110091775 ENSG00000265590 NM_001350338 -HGNC:28554 CFAP299 cilia and flagella associated protein 299 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 C4orf22 chromosome 4 open reading frame 22 Cilia and flagella associated 1491 2006-05-22 2018-02-02 2018-02-02 2023-01-20 255119 ENSG00000197826 OTTHUMG00000130289 uc003hmf.3 BC034296 NM_152770 "CCDS3587|CCDS56336" Q6V702 30820741 MGI:1916571 RGD:1597725 HGNC:28554 "ENST00000358105.8|NM_152770.3" +HGNC:28554 CFAP299 cilia and flagella associated protein 299 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 C4orf22 chromosome 4 open reading frame 22 Cilia and flagella associated 1491 2006-05-22 2018-02-02 2018-02-02 2023-01-20 255119 ENSG00000197826 OTTHUMG00000130289 uc003hmf.3 BC034296 NM_152770 "CCDS56336|CCDS3587" Q6V702 30820741 MGI:1916571 RGD:1597725 HGNC:28554 "ENST00000358105.8|NM_152770.3" HGNC:28188 CFAP300 cilia and flagella associated protein 300 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "MGC13040|FBB5|DNAAF17" dynein axonemal assembly factor 17 C11orf70 chromosome 11 open reading frame 70 Cilia and flagella associated 1491 2006-03-31 2018-02-02 2018-02-02 2023-01-20 85016 ENSG00000137691 OTTHUMG00000167320 uc001pgp.4 AK094851 NM_032930 "CCDS53698|CCDS8313" Q9BRQ4 "29727692|29727693|30916986" MGI:3045346 RGD:1591894 618058 HGNC:28188 "ENST00000434758.7|NM_032930.3" HGNC:28188 HGNC:1260 CFAP410 cilia and flagella associated protein 410 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "YF5|A2|LRRC76" "nuclear encoded mitochondrial protein|leucine rich repeat containing 76" C21orf2 chromosome 21 open reading frame 2 1998-08-06 2018-07-05 2018-07-05 2023-01-20 755 ENSG00000160226 OTTHUMG00000086909 uc002zep.2 Y11392 NM_004928 "CCDS59445|CCDS59444|CCDS13709" O43822 "9465297|26974433|26290490|27548899" MGI:1915134 RGD:1309594 603191 470022 HGNC:1260 "ENST00000339818.9|NM_004928.3" HGNC:1260 HGNC:27232 CFAP418 cilia and flagella associated protein 418 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "FLJ30600|CORD16|RP64|BBS21|FAP418|MOT25" "cone-rod dystrophy 16|Bardet-Biedl syndrome 21" C8orf37 chromosome 8 open reading frame 37 2005-07-27 2021-05-06 2021-05-06 2023-01-20 157657 ENSG00000156172 OTTHUMG00000164663 uc003yho.3 AK055162 NM_177965 CCDS6268 Q96NL8 "22177090|26854863" MGI:1914407 RGD:1549749 614477 288971 HGNC:27232 "ENST00000286688.6|NM_177965.4" HGNC:27232 HGNC:50444 CFAP418-AS1 CFAP418 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 tospeak C8orf37-AS1 C8orf37 antisense RNA 1 Antisense RNAs 1987 2014-04-29 2021-05-07 2021-05-07 2021-05-07 100616530 ENSG00000253773 OTTHUMG00000164661 NR_038201 C8orf37-AS1 HGNC:50444 HGNC:1037 CFB complement factor B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 H2-Bf "BFD|BF" B-factor, properdin "Sushi domain containing|Complement system activation components" "1179|1638" 1986-01-01 2006-02-10 2006-02-10 2023-01-20 629 ENSG00000243649 OTTHUMG00000031198 uc063wuq.1 L15702 NM_001710 CCDS4729 P00751 MGI:105975 RGD:2204 LRG_136|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_136.xml 138470 158379 S01.196 objectId:2339 3.4.21.47 HGNC:1037 "ENST00000425368.7|NM_001710.6" HGNC:1037 -HGNC:18292 CFC1 cryptic, EGF-CFC family member 1 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 CRYPTIC HTX2 "heterotaxy 2 (autosomal dominant)|cripto, FRL-1, cryptic family 1" 2004-02-04 2023-06-05 2023-06-05 55997 ENSG00000136698 OTTHUMG00000131628 uc002tro.3 AF312769 NM_032545 "CCDS2162|CCDS74574|CCDS74573" P0CG37 "11062482|10858660" MGI:109448 605194 119359 HGNC:18292 "ENST00000259216.6|NM_032545.4" HGNC:18292 +HGNC:18292 CFC1 cryptic, EGF-CFC family member 1 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 CRYPTIC HTX2 "heterotaxy 2 (autosomal dominant)|cripto, FRL-1, cryptic family 1" 2004-02-04 2023-06-05 2023-06-05 55997 ENSG00000136698 OTTHUMG00000131628 uc002tro.3 AF312769 NM_032545 "CCDS74574|CCDS2162|CCDS74573" P0CG37 "11062482|10858660" MGI:109448 605194 119359 HGNC:18292 "ENST00000259216.6|NM_032545.4" HGNC:18292 HGNC:33983 CFC1B cryptic, EGF-CFC family member 1B protein-coding gene gene with protein product Approved 2q21.1 02q21.1 cripto, FRL-1, cryptic family 1B 2008-01-31 2023-06-05 2023-06-05 653275 ENSG00000152093 OTTHUMG00000153959 uc002trl.3 NM_001079530 CCDS33286 P0CG36 MGI:109448 RGD:1562188 HGNC:33983 "ENST00000281882.8|NM_001079530.2" HGNC:2771 CFD complement factor D protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ADN adipsin "DF|PFD" "D component of complement (adipsin)|properdin factor D|complement factor D (adipsin)" "Granule associated serine proteases of immune defence|Complement system activation components" "1636|1638" 1992-10-21 2006-02-10 2016-05-06 2023-01-20 1675 ENSG00000197766 OTTHUMG00000181840 uc002lqc.4 M84526 NM_001928 "CCDS12046|CCDS82261" P00746 1374388 MGI:87931 RGD:2498 "CFDbase: Mutation registry for Factor D deficiency (previously known as DFbase)|http://structure.bmc.lu.se/idbase/CFDbase/|LRG_46|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_46.xml" 134350 221187 S01.191 objectId:2842 HGNC:2771 "ENST00000327726.11|NM_001928.4" HGNC:2771 HGNC:1873 CFDP1 craniofacial development protein 1 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "BCNT|p97|CP27|SWC5|Yeti|CENP-29" "Bucentaur|centromere protein 29" 1999-12-09 2023-01-20 10428 ENSG00000153774 OTTHUMG00000137615 uc002fdy.4 AB009285 NM_006324 CCDS10916 Q9UEE9 "9602175|9006920|11992732|28367969" MGI:1344403 RGD:735080 608108 HGNC:1873 "ENST00000283882.4|NM_006324.3" -HGNC:4883 CFH complement factor H protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "HUS|FHL1|ARMS1|ARMD4" "beta-1H|H factor 2 (complement)|age-related maculopathy susceptibility 1" "HF|HF1|HF2" H factor 1 (complement) "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1986-01-01 2004-08-12 2004-08-09 2023-01-20 3075 ENSG00000000971 OTTHUMG00000035607 uc001gtj.4 Y00716 NM_000186 "CCDS1385|CCDS53452" P08603 "2889480|2963625" MGI:88385 RGD:620428 "CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)|http://structure.bmc.lu.se/idbase/CFHbase/|LRG_47|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_47.xml" 134370 119363 HGNC:4883 "ENST00000367429.9|NM_000186.4" HGNC:4883 -HGNC:4888 CFHR1 complement factor H related 1 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "H36-1|FHR1|CFHL|H36-2" "HFL1|CFHL1|CFHR1P|HFL2|CFHL1P" "H factor (complement)-like 1|complement factor H-related 1 pseudogene|H factor (complement)-like 2|complement factor H-related 1" "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1991-11-15 2006-02-28 2016-01-19 2023-01-20 3078 ENSG00000244414 OTTHUMG00000036276 uc001gtn.4 M65292 NM_002113 "CCDS91132|CCDS1386|CCDS91131" Q03591 "1711047|1826708|31273197" MGI:2138169 RGD:1310510 LRG_149|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_149.xml 134371 286578 HGNC:4888 "ENST00000320493.10|NM_002113.3" HGNC:4888 +HGNC:4883 CFH complement factor H protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "HUS|FHL1|ARMS1|ARMD4" "beta-1H|H factor 2 (complement)|age-related maculopathy susceptibility 1" "HF|HF1|HF2" H factor 1 (complement) "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1986-01-01 2004-08-12 2004-08-09 2023-01-20 3075 ENSG00000000971 OTTHUMG00000035607 uc001gtj.4 Y00716 NM_000186 "CCDS53452|CCDS1385" P08603 "2889480|2963625" MGI:88385 RGD:620428 "CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)|http://structure.bmc.lu.se/idbase/CFHbase/|LRG_47|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_47.xml" 134370 119363 HGNC:4883 "ENST00000367429.9|NM_000186.4" HGNC:4883 +HGNC:4888 CFHR1 complement factor H related 1 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "H36-1|FHR1|CFHL|H36-2" "HFL1|CFHL1|CFHR1P|HFL2|CFHL1P" "H factor (complement)-like 1|complement factor H-related 1 pseudogene|H factor (complement)-like 2|complement factor H-related 1" "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1991-11-15 2006-02-28 2016-01-19 2023-01-20 3078 ENSG00000244414 OTTHUMG00000036276 uc001gtn.4 M65292 NM_002113 "CCDS91131|CCDS91132|CCDS1386" Q03591 "1711047|1826708|31273197" MGI:2138169 RGD:1310510 LRG_149|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_149.xml 134371 286578 HGNC:4888 "ENST00000320493.10|NM_002113.3" HGNC:4888 HGNC:4890 CFHR2 complement factor H related 2 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 FHR2 "HFL3|CFHL2" "H factor (complement)-like 3|complement factor H-related 2" "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1993-10-18 2006-02-28 2016-01-19 2023-01-20 3080 ENSG00000080910 OTTHUMG00000036518 uc001gtq.2 X64877 NM_005666 "CCDS30959|CCDS91136|CCDS91135" P36980 "1533657|7672821" MGI:2138169 LRG_1216|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1216.xml 600889 HGNC:4890 "ENST00000367415.8|NM_005666.4" -HGNC:16980 CFHR3 complement factor H related 3 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "FHR-3|HLF4|FHR3|DOWN16" CFHL3 complement factor H-related 3 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2004-08-09 2006-02-28 2016-01-19 2023-01-20 10878 ENSG00000116785 OTTHUMG00000035929 uc001gtl.4 X68679 NM_021023 "CCDS53453|CCDS30958" Q02985 "8428964|10380701" MGI:3611575 LRG_175|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_175.xml 605336 286593 HGNC:16980 "ENST00000367425.9|NM_021023.6" -HGNC:16979 CFHR4 complement factor H related 4 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "FHR-4|FHR4" CFHL4 complement factor H-related 4 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2004-08-09 2006-02-28 2016-01-19 2023-01-20 10877 ENSG00000134365 OTTHUMG00000036647 uc009wyy.3 "X98337|AJ640130" NM_006684 "CCDS91133|CCDS55671|CCDS41451" Q92496 "9038172|10380701" RGD:1564614 LRG_1224|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1224.xml 605337 474489 HGNC:16979 "ENST00000608469.6|NM_001201550.3" +HGNC:16980 CFHR3 complement factor H related 3 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "FHR-3|HLF4|FHR3|DOWN16" CFHL3 complement factor H-related 3 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2004-08-09 2006-02-28 2016-01-19 2023-01-20 10878 ENSG00000116785 OTTHUMG00000035929 uc001gtl.4 X68679 NM_021023 "CCDS30958|CCDS53453" Q02985 "8428964|10380701" MGI:3611575 LRG_175|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_175.xml 605336 286593 HGNC:16980 "ENST00000367425.9|NM_021023.6" +HGNC:16979 CFHR4 complement factor H related 4 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "FHR-4|FHR4" CFHL4 complement factor H-related 4 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2004-08-09 2006-02-28 2016-01-19 2023-01-20 10877 ENSG00000134365 OTTHUMG00000036647 uc009wyy.3 "X98337|AJ640130" NM_006684 "CCDS55671|CCDS91133|CCDS41451" Q92496 "9038172|10380701" RGD:1564614 LRG_1224|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1224.xml 605337 474489 HGNC:16979 "ENST00000608469.6|NM_001201550.3" HGNC:24668 CFHR5 complement factor H related 5 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "FHR5|FHR-5" factor H related protein 5 CFHL5 complement factor H-related 5 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2004-08-09 2006-02-28 2016-01-19 2023-01-20 81494 ENSG00000134389 OTTHUMG00000036517 uc001gts.5 AF295327 NM_030787 CCDS1387 Q9BXR6 "11058592|12041828" LRG_227|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_227.xml 608593 286604 HGNC:24668 "ENST00000256785.5|NM_030787.4" HGNC:24668 -HGNC:5394 CFI complement factor I protein-coding gene gene with protein product Approved 4q25 04q25 "FI|C3b-INA|KAF" "Konglutinogen-activating factor|C3b-inactivator" IF I factor (complement) "Scavenger receptor cysteine rich domain containing|Complement system regulators and receptors" "1404|1639" 1986-01-01 2006-02-10 2006-02-10 2023-01-20 3426 ENSG00000205403 OTTHUMG00000161109 uc003hzr.5 J02770 NM_000204 "CCDS82945|CCDS82946|CCDS34049" P05156 2956252 MGI:105937 RGD:620429 "CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)|http://structure.bmc.lu.se/idbase/CFIbase/|LRG_48|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_48.xml" 217030 119371 S01.199 3.4.21.45 HGNC:5394 "ENST00000394634.7|NM_000204.5" HGNC:5394 +HGNC:5394 CFI complement factor I protein-coding gene gene with protein product Approved 4q25 04q25 "FI|C3b-INA|KAF" "Konglutinogen-activating factor|C3b-inactivator" IF I factor (complement) "Scavenger receptor cysteine rich domain containing|Complement system regulators and receptors" "1404|1639" 1986-01-01 2006-02-10 2006-02-10 2023-01-20 3426 ENSG00000205403 OTTHUMG00000161109 uc003hzr.5 J02770 NM_000204 "CCDS82946|CCDS82945|CCDS34049" P05156 2956252 MGI:105937 RGD:620429 "CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)|http://structure.bmc.lu.se/idbase/CFIbase/|LRG_48|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_48.xml" 217030 119371 S01.199 3.4.21.45 HGNC:5394 "ENST00000394634.7|NM_000204.5" HGNC:5394 HGNC:1874 CFL1 cofilin 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 CFL cofilin 1 (non-muscle) 1991-07-16 2016-01-19 2023-01-20 1072 ENSG00000172757 OTTHUMG00000166602 uc001oft.4 X95404 NM_005507 CCDS8114 P23528 8800436 MGI:101757 RGD:69285 601442 HGNC:1874 "ENST00000308162.10|NM_005507.3" HGNC:28560 CFL1P1 cofilin 1 pseudogene 1 pseudogene pseudogene Approved 10q23.31 10q23.31 MGC35136 CFLP1 cofilin pseudogene 1 2004-04-15 2011-04-18 2016-01-19 2023-03-15 142913 ENSG00000223820 OTTHUMG00000018684 NG_004788 12477932 PGOHUM00000238876 HGNC:28560 HGNC:1878 CFL1P2 cofilin 1 pseudogene 2 pseudogene pseudogene Approved 1p32.3 01p32.3 "CFLL2|CFLP2" "cofilin-like 2|cofilin pseudogene 2" 1991-06-03 2011-04-18 2016-01-19 2016-01-19 391039 ENSG00000213478 OTTHUMG00000008194 XR_017560 PGOHUM00000244022 HGNC:1878 @@ -4494,7 +4494,7 @@ HGNC:34545 CFL1P6 cofilin 1 pseudogene 6 pseudogene pseudogene Approved 1p36.22 HGNC:39959 CFL1P7 cofilin 1 pseudogene 7 pseudogene pseudogene Approved 3p24.2 03p24.2 2011-04-18 2016-01-19 2016-01-19 100505919 ENSG00000213877 OTTHUMG00000155603 NG_029013 PGOHUM00000237963 HGNC:39959 HGNC:39960 CFL1P8 cofilin 1 pseudogene 8 pseudogene pseudogene Approved 13q32.3 13q32.3 2011-04-18 2016-01-19 2016-01-19 100873812 ENSG00000234239 OTTHUMG00000017274 NG_032369 PGOHUM00000257962 HGNC:39960 HGNC:1875 CFL2 cofilin 2 protein-coding gene gene with protein product Approved 14q13.1 14q13.1 NEM7 nemaline myopathy type 7 cofilin 2 (muscle) 1995-07-11 2016-01-19 2023-01-20 1073 ENSG00000165410 OTTHUMG00000029536 uc001wsh.4 AF087867 NM_138638 "CCDS9650|CCDS9649|CCDS58311" Q9Y281 8800436 MGI:101763 RGD:1306982 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=CFL2|LRG_213|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_213.xml" 601443 119377 HGNC:1875 "ENST00000298159.11|NM_138638.5" HGNC:1875 -HGNC:1876 CFLAR CASP8 and FADD like apoptosis regulator protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CASH|Casper|CLARP|FLAME|FLIP|I-FLICE|MRIT|c-FLIP|cFLIP" CASP8AP1 CASP8 and FADD-like apoptosis regulator "Receptor ligands|Death effector domain containing|Ripoptosome|Death inducing signaling complex " "542|1019|1340|1342" 1999-05-07 2015-11-12 2023-01-20 8837 ENSG00000003402 OTTHUMG00000132819 uc002uxb.5 AF005774 NM_003879 "CCDS59436|CCDS56157|CCDS2337|CCDS46487|CCDS77503|CCDS77505|CCDS56158" O15519 "9208847|9217161" MGI:1336166 RGD:620847 603599 C14.971 ligandId:5188 HGNC:1876 "ENST00000309955.8|NM_003879.7" +HGNC:1876 CFLAR CASP8 and FADD like apoptosis regulator protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CASH|Casper|CLARP|FLAME|FLIP|I-FLICE|MRIT|c-FLIP|cFLIP" CASP8AP1 CASP8 and FADD-like apoptosis regulator "Receptor ligands|Death effector domain containing|Ripoptosome|Death inducing signaling complex " "542|1019|1340|1342" 1999-05-07 2015-11-12 2023-01-20 8837 ENSG00000003402 OTTHUMG00000132819 uc002uxb.5 AF005774 NM_003879 "CCDS77503|CCDS56157|CCDS2337|CCDS46487|CCDS59436|CCDS77505|CCDS56158" O15519 "9208847|9217161" MGI:1336166 RGD:620847 603599 C14.971 ligandId:5188 HGNC:1876 "ENST00000309955.8|NM_003879.7" HGNC:14437 CFLAR-AS1 CFLAR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 ALS2CR10 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 10|CFLAR antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2001-01-26 2011-04-28 2012-08-15 2016-12-07 65072 ENSG00000226312 OTTHUMG00000154713 uc002uxh.2 AB053312 NR_040030 27855375 CFLAR-AS1 HGNC:14437 HGNC:8864 CFP complement factor properdin protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 PFC properdin P factor, complement Complement system activation components 1638 1989-06-07 2006-03-02 2006-03-02 2023-01-20 5199 ENSG00000126759 OTTHUMG00000021451 uc004dih.4 M83652 NM_002621 CCDS14282 P27918 1783405 MGI:97545 RGD:1594557 "PFCbase: Mutation registry for properdin deficiency|http://structure.bmc.lu.se/idbase/CFPbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CFP|LRG_129|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_129.xml" 300383 119379 HGNC:8864 "ENST00000396992.8|NM_001145252.3" HGNC:8864 HGNC:1884 CFTR CF transmembrane conductance regulator protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "MRP7|ABC35|TNR-CFTR|dJ760C5.1|CFTR/MRP" ATP-binding cassette sub-family C, member 7 "CF|ABCC7" cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) "Chloride channels, ATP-gated CFTR|ATP binding cassette subfamily C" "309|807" 1986-01-01 2019-05-16 2023-01-20 1080 ENSG00000001626 OTTHUMG00000023076 uc003vjd.4 M28668 NM_000492 CCDS5773 P13569 2772657 MGI:88388 RGD:2332 "Cystic Fibrosis|http://www.genet.sickkids.on.ca/cftr/|LRG_663|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_663.xml" 602421 119382 objectId:707 HGNC:1884 "ENST00000003084.11|NM_000492.4" HGNC:1884 @@ -4516,7 +4516,7 @@ HGNC:25931 CGNL1 cingulin like 1 protein-coding gene gene with protein product A HGNC:16962 CGREF1 cell growth regulator with EF-hand domain 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 CGR11 EF-hand domain containing 863 2003-09-29 2023-03-15 10669 ENSG00000138028 OTTHUMG00000152009 uc021vfa.2 BC034764 NM_006569 "CCDS54339|CCDS33162" Q99674 8968090 MGI:1915817 RGD:620801 606137 HGNC:16962 "ENST00000402394.6|NM_006569.6" HGNC:15528 CGRRF1 cell growth regulator with ring finger domain 1 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "CGR19|RNF197" Ring finger proteins 58 2003-09-29 2023-01-20 10668 ENSG00000100532 OTTHUMG00000140308 uc001xay.4 BC015063 NM_006568 CCDS9719 Q99675 8968090 MGI:1916368 RGD:620803 606138 HGNC:15528 "ENST00000216420.12|NM_006568.3" HGNC:1907 CH25H cholesterol 25-hydroxylase protein-coding gene gene with protein product Approved 10q23.31 10q23.31 Fatty acid hydroxylase domain containing 552 1999-11-11 2023-01-20 9023 ENSG00000138135 OTTHUMG00000018705 uc001kfz.4 AF059212 NM_003956 CCDS7400 O95992 9852097 MGI:1333869 RGD:1310575 604551 1.14.99.38 HGNC:1907 "ENST00000371852.4|NM_003956.4" -HGNC:28680 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 MGC4504 gamma-GCT acting on glutathione homolog 1 ChaC, cation transport regulator homolog 1 (E. coli) 2005-10-25 2016-05-16 2023-01-20 79094 ENSG00000128965 OTTHUMG00000130208 uc059hwj.1 BC019625 NM_024111 "CCDS10070|CCDS45233" Q9BUX1 23070364 MGI:1916315 RGD:1307153 614587 470074 4.3.2.7 HGNC:28680 "ENST00000617768.5|NM_024111.6" +HGNC:28680 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 MGC4504 gamma-GCT acting on glutathione homolog 1 ChaC, cation transport regulator homolog 1 (E. coli) 2005-10-25 2016-05-16 2023-01-20 79094 ENSG00000128965 OTTHUMG00000130208 uc059hwj.1 BC019625 NM_024111 "CCDS45233|CCDS10070" Q9BUX1 23070364 MGI:1916315 RGD:1307153 614587 470074 4.3.2.7 HGNC:28680 "ENST00000617768.5|NM_024111.6" HGNC:32363 CHAC2 ChaC glutathione specific gamma-glutamylcyclotransferase 2 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 GCG1 gamma-GCT acting on glutathione homolog 2 "ChaC, cation transport regulator-like 2 (E. coli)|ChaC, cation transport regulator homolog 2 (E. coli)" 2005-10-25 2020-03-10 2023-01-20 494143 ENSG00000143942 OTTHUMG00000151824 uc002rxk.2 BC025376 NM_001008708 CCDS33196 Q8WUX2 "23070364|27913623" MGI:1915294 RGD:1309120 617446 4.3.2.7 HGNC:32363 "ENST00000295304.5|NM_001008708.4" HGNC:1909 CHAD chondroadherin protein-coding gene gene with protein product Approved 17q21.33 17q21.33 SLRR4A chondroadherin proteoglycan Small leucine rich repeat proteoglycans 573 1997-07-11 2023-01-20 1101 ENSG00000136457 OTTHUMG00000162129 uc010dbr.4 U96767 NM_001267 CCDS11568 O15335 9344663 MGI:1096866 RGD:2336 602178 HGNC:1909 "ENST00000508540.6|NM_001267.3" HGNC:25165 CHADL chondroadherin like protein-coding gene gene with protein product Approved 22q13.2 22q13.2 SLRR4B chondroadherin-like 2007-11-21 2015-12-01 2023-01-20 150356 ENSG00000100399 OTTHUMG00000150936 uc003azq.5 BC012882 NM_138481 CCDS46715 Q6NUI6 25451920 MGI:3036284 RGD:6504353 616236 HGNC:25165 "ENST00000216241.14|NM_138481.2" @@ -4525,7 +4525,7 @@ HGNC:1910 CHAF1A chromatin assembly factor 1 subunit A protein-coding gene gene HGNC:1911 CHAF1B chromatin assembly factor 1 subunit B protein-coding gene gene with protein product Approved 21q22.12-q22.13 21q22.12-q22.13 "CAF1P60|CAF-1|CAF1|CAF1A|MPP7|MPHOSPH7" "M-phase phosphoprotein 7|Chromatin assembly factor I, p60 subunit|human chromatin assembly factor-I p60 subunit" chromatin assembly factor 1, subunit B (p60) WD repeat domain containing 362 1999-09-29 2015-11-23 2023-01-20 8208 ENSG00000159259 OTTHUMG00000086606 uc002yvj.4 U20980 NM_005441 CCDS13644 Q13112 "7600578|8792829" MGI:1314881 RGD:1307634 601245 HGNC:1911 "ENST00000314103.6|NM_005441.3" HGNC:1911 HGNC:20311 CHAMP1 chromosome alignment maintaining phosphoprotein 1 protein-coding gene gene with protein product Approved 13q34 13q34 "CAMP|CHAMP" chromosome alignment-maintaining phosphoprotein "C13orf8|ZNF828" "chromosome 13 open reading frame 8|zinc finger protein 828" Zinc fingers C2H2-type 28 2003-01-24 2011-10-07 2011-10-07 2023-01-20 283489 ENSG00000198824 OTTHUMG00000017404 uc001vuv.4 AK074894 NM_032436 CCDS9545 Q96JM3 21063390 MGI:1196398 RGD:1311283 616327 460746 HGNC:20311 "ENST00000361283.4|NM_032436.4" HGNC:20311 HGNC:48626 CHASERR CHD2 adjacent suppressive regulatory RNA non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 LINC01578 long intergenic non-protein coding RNA 1578 Long non-coding RNAs with non-systematic symbols 1992 2014-11-21 2020-05-22 2020-05-22 2020-05-22 100507217 ENSG00000272888 OTTHUMG00000149845 NR_037601 31704914 MGI:1916420 LINC01578 HGNC:48626 -HGNC:1912 CHAT choline O-acetyltransferase protein-coding gene gene with protein product Approved 10q11.23 10q11.23 choline acetyltransferase 1990-03-14 2010-05-11 2023-01-20 1103 ENSG00000070748 OTTHUMG00000018198 uc001jhz.2 AF305907 NM_020549 "CCDS7232|CCDS7233|CCDS44389" P28329 1840566 MGI:88392 RGD:1304627 118490 119387 objectId:2480 2.3.1.6 HGNC:1912 "ENST00000337653.7|NM_020549.5" HGNC:1912 +HGNC:1912 CHAT choline O-acetyltransferase protein-coding gene gene with protein product Approved 10q11.23 10q11.23 choline acetyltransferase 1990-03-14 2010-05-11 2023-01-20 1103 ENSG00000070748 OTTHUMG00000018198 uc001jhz.2 AF305907 NM_020549 "CCDS44389|CCDS7233|CCDS7232" P28329 1840566 MGI:88392 RGD:1304627 118490 119387 objectId:2480 2.3.1.6 HGNC:1912 "ENST00000337653.7|NM_020549.5" HGNC:1912 HGNC:23518 CHCHD1 coiled-coil-helix-coiled-coil-helix domain containing 1 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ25854 C10orf34 chromosome 10 open reading frame 34 Coiled-coil-helix-coiled-coil-helix domain containing proteins 489 2004-04-30 2004-01-19 2023-01-20 118487 ENSG00000172586 OTTHUMG00000018475 uc001jvc.5 AK098720 NM_203298 CCDS7334 Q96BP2 MGI:1913371 RGD:1307134 608842 HGNC:23518 "ENST00000372833.6|NM_203298.3" HGNC:21645 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "MIX17B|MNRR1" "MIX17 homolog B|mitochondrial nuclear retrograde regulator 1" C7orf17 chromosome 7 open reading frame 17 Coiled-coil-helix-coiled-coil-helix domain containing proteins 489 2003-07-14 2004-01-21 2004-01-19 2023-01-20 51142 ENSG00000106153 OTTHUMG00000129429 uc003tsa.4 AF078845 NM_016139 CCDS5526 Q9Y6H1 "23303788|27308501|32338760|35173147" MGI:1261428 RGD:6496638 616244 HGNC:21645 "ENST00000395422.4|NM_016139.4" HGNC:21645 HGNC:39585 CHCHD2P1 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2011-03-16 2014-11-19 100874506 ENSG00000226902 OTTHUMG00000022333 NG_032323 PGOHUM00000241993 HGNC:39585 @@ -4551,24 +4551,24 @@ HGNC:44492 CHCHD4P4 coiled-coil-helix-coiled-coil-helix domain containing 4 pseu HGNC:44493 CHCHD4P5 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 5 pseudogene pseudogene Approved 1q44 01q44 2012-11-12 2012-11-12 106479039 ENSG00000225222 OTTHUMG00000057839 NG_044415 PGOHUM00000245287 HGNC:44493 HGNC:17840 CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "MGC11104|MIC14|MIX14" mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae) C2orf9 chromosome 2 open reading frame 9 Coiled-coil-helix-coiled-coil-helix domain containing proteins 489 2002-01-29 2004-01-21 2004-01-19 2023-01-20 84269 ENSG00000125611 OTTHUMG00000131312 uc002thz.2 BC004498 NM_032309 CCDS2098 Q9BSY4 22842048 MGI:1913420 RGD:1307809 616978 HGNC:17840 "ENST00000324913.10|NM_032309.4" HGNC:28184 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "MGC13016|PPP1R23|CHCM1|Mic25|MICOS25" "protein phosphatase 1, regulatory subunit 23|coiled-coil-helix cristae morphology 1|mitochondrial contact site and cristae organizing system subunit 25" "Coiled-coil-helix-coiled-coil-helix domain containing proteins|Protein phosphatase 1 regulatory subunits|Mitochondrial contact site and cristae organizing system subunits" "489|694|1616" 2004-01-19 2023-01-20 84303 ENSG00000159685 OTTHUMG00000159601 uc003ejf.3 BC006123 NM_032343 CCDS3041 Q9BRQ6 "17624330|22228767" MGI:1913348 RGD:1304561 615634 470080 HGNC:28184 "ENST00000290913.8|NM_032343.3" -HGNC:28314 CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "MGC2217|COX23" COX23 cytochrome c oxidase assembly homolog (S. cerevisiae) "Coiled-coil-helix-coiled-coil-helix domain containing proteins|Mitochondrial respiratory chain complex assembly factors" "489|645" 2004-01-19 2023-01-20 79145 ENSG00000170791 OTTHUMG00000074081 uc003xsx.4 AK095922 NM_024300 "CCDS6166|CCDS55232|CCDS55233|CCDS34896|CCDS34895|CCDS83294" Q9BUK0 "20922212|22842048" MGI:1913683 RGD:1592689 CHCHD7 611238 HGNC:28314 "ENST00000355315.8|NM_001011671.3" -HGNC:15559 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "N27C7-4|MIX17A" MIX17 homolog A C22orf16 chromosome 22 open reading frame 16 Coiled-coil-helix-coiled-coil-helix domain containing proteins 489 2004-06-24 2008-06-13 2008-06-13 2023-01-20 400916 ENSG00000250479 OTTHUMG00000150736 uc062cgg.1 AB050774 NM_213720 "CCDS13815|CCDS77659" Q8WYQ3 "24934289|32369233|35173147" MGI:2143558 RGD:1359417 615903 406765 HGNC:15559 "ENST00000484558.3|NM_213720.3" HGNC:15559 +HGNC:28314 CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "MGC2217|COX23" COX23 cytochrome c oxidase assembly homolog (S. cerevisiae) "Coiled-coil-helix-coiled-coil-helix domain containing proteins|Mitochondrial respiratory chain complex assembly factors" "489|645" 2004-01-19 2023-01-20 79145 ENSG00000170791 OTTHUMG00000074081 uc003xsx.4 AK095922 NM_024300 "CCDS55233|CCDS55232|CCDS83294|CCDS34896|CCDS6166|CCDS34895" Q9BUK0 "20922212|22842048" MGI:1913683 RGD:1592689 CHCHD7 611238 HGNC:28314 "ENST00000355315.8|NM_001011671.3" +HGNC:15559 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "N27C7-4|MIX17A" MIX17 homolog A C22orf16 chromosome 22 open reading frame 16 Coiled-coil-helix-coiled-coil-helix domain containing proteins 489 2004-06-24 2008-06-13 2008-06-13 2023-01-20 400916 ENSG00000250479 OTTHUMG00000150736 uc062cgg.1 AB050774 NM_213720 "CCDS77659|CCDS13815" Q8WYQ3 "24934289|32369233|35173147" MGI:2143558 RGD:1359417 615903 406765 HGNC:15559 "ENST00000484558.3|NM_213720.3" HGNC:15559 HGNC:26990 CHCT1 CHD1 helical C-terminal domain containing 1 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 C17orf64 chromosome 17 open reading frame 64 2005-12-16 2022-07-15 2022-07-15 2023-01-20 124773 ENSG00000141371 OTTHUMG00000157171 uc002iyq.4 BC048806 NM_181707 CCDS32698 Q86WR6 "27591891|33566224" MGI:1920884 RGD:1310166 HGNC:26990 "ENST00000269127.5|NM_181707.3" HGNC:1915 CHD1 chromodomain helicase DNA binding protein 1 protein-coding gene gene with protein product Approved 5q15-q21.1 05q15-q21.1 1998-03-20 2023-01-20 1105 ENSG00000153922 OTTHUMG00000162744 uc063frt.1 AF006513 NM_001270 "CCDS93752|CCDS34204" O14646 "8460153|9326634" MGI:88393 RGD:1306794 602118 HGNC:1915 "ENST00000614616.5|NM_001270.4" HGNC:1915 HGNC:52907 CHD1-DT CHD1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q21.1 05q21.1 LINC02062 long intergenic non-protein coding RNA 2062 Divergent transcripts 1990 2016-12-16 2021-04-23 2021-04-23 2021-04-23 102724810 ENSG00000248489 OTTHUMG00000162749 NR_151718 HGNC:52907 -HGNC:1916 CHD1L chromodomain helicase DNA binding protein 1 like protein-coding gene gene with protein product Approved 1q21.1 01q21.1 ALC1 amplified in liver cancer 1 Macro domain containing 1693 1999-05-28 2016-05-26 2023-03-15 9557 ENSG00000131778 OTTHUMG00000150271 uc001epm.6 AF054177 NM_004284 "CCDS91038|CCDS927|CCDS91037|CCDS58021" Q86WJ1 9653160 MGI:1915308 RGD:1311935 613039 470082 HGNC:1916 "ENST00000369258.8|NM_004284.6" HGNC:1916 -HGNC:1917 CHD2 chromodomain helicase DNA binding protein 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "FLJ38614|DKFZp547I1315|DKFZp781D1727|DKFZp686E01200" "DNA helicases|MicroRNA protein coding host genes" "1167|1691" 1998-03-20 2023-01-20 1106 ENSG00000173575 OTTHUMG00000185958 uc002bsp.4 AF006514 NM_001271 "CCDS45356|CCDS10374" O14647 9326634 MGI:2448567 RGD:1310056 LRG_1425|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1425.xml 602119 361114 HGNC:1917 "ENST00000394196.9|NM_001271.4" HGNC:1917 -HGNC:1918 CHD3 chromodomain helicase DNA binding protein 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "Mi-2a|ZFH|Mi2-ALPHA" "PHD finger proteins|NuRD complex subunits|Small nucleolar RNA protein coding host genes" "88|1305|1835" 1998-03-20 2023-01-20 1107 ENSG00000170004 OTTHUMG00000150427 uc002gjd.3 U08379 NM_001005273 "CCDS32554|CCDS32553|CCDS32555" Q12873 "9326634|7560064" MGI:1344395 RGD:1311923 602120 HGNC:1918 "ENST00000330494.12|NM_001005273.3" HGNC:1918 -HGNC:1919 CHD4 chromodomain helicase DNA binding protein 4 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "Mi-2b|Mi2-BETA" "PHD finger proteins|NuRD complex subunits|Small nucleolar RNA protein coding host genes" "88|1305|1835" 1998-03-20 2023-01-20 1108 ENSG00000111642 OTTHUMG00000169164 uc001qpo.4 X86691 NM_001273 "CCDS86267|CCDS76510|CCDS8552" Q14839 "7575689|27235397" MGI:1344380 RGD:620064 CHD4 603277 470084 HGNC:1919 "ENST00000544040.7|NM_001273.5" HGNC:1919 +HGNC:1916 CHD1L chromodomain helicase DNA binding protein 1 like protein-coding gene gene with protein product Approved 1q21.1 01q21.1 ALC1 amplified in liver cancer 1 Macro domain containing 1693 1999-05-28 2016-05-26 2023-03-15 9557 ENSG00000131778 OTTHUMG00000150271 uc001epm.6 AF054177 NM_004284 "CCDS91038|CCDS927|CCDS58021|CCDS91037" Q86WJ1 9653160 MGI:1915308 RGD:1311935 613039 470082 HGNC:1916 "ENST00000369258.8|NM_004284.6" HGNC:1916 +HGNC:1917 CHD2 chromodomain helicase DNA binding protein 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "FLJ38614|DKFZp547I1315|DKFZp781D1727|DKFZp686E01200" "DNA helicases|MicroRNA protein coding host genes" "1167|1691" 1998-03-20 2023-01-20 1106 ENSG00000173575 OTTHUMG00000185958 uc002bsp.4 AF006514 NM_001271 "CCDS10374|CCDS45356" O14647 9326634 MGI:2448567 RGD:1310056 LRG_1425|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1425.xml 602119 361114 HGNC:1917 "ENST00000394196.9|NM_001271.4" HGNC:1917 +HGNC:1918 CHD3 chromodomain helicase DNA binding protein 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "Mi-2a|ZFH|Mi2-ALPHA" "PHD finger proteins|NuRD complex subunits|Small nucleolar RNA protein coding host genes" "88|1305|1835" 1998-03-20 2023-01-20 1107 ENSG00000170004 OTTHUMG00000150427 uc002gjd.3 U08379 NM_001005273 "CCDS32555|CCDS32553|CCDS32554" Q12873 "9326634|7560064" MGI:1344395 RGD:1311923 602120 HGNC:1918 "ENST00000330494.12|NM_001005273.3" HGNC:1918 +HGNC:1919 CHD4 chromodomain helicase DNA binding protein 4 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "Mi-2b|Mi2-BETA" "PHD finger proteins|NuRD complex subunits|Small nucleolar RNA protein coding host genes" "88|1305|1835" 1998-03-20 2023-01-20 1108 ENSG00000111642 OTTHUMG00000169164 uc001qpo.4 X86691 NM_001273 "CCDS86267|CCDS8552|CCDS76510" Q14839 "7575689|27235397" MGI:1344380 RGD:620064 CHD4 603277 470084 HGNC:1919 "ENST00000544040.7|NM_001273.5" HGNC:1919 HGNC:16816 CHD5 chromodomain helicase DNA binding protein 5 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "PHD finger proteins|NuRD complex subunits" "88|1305" 2002-11-29 2023-01-20 26038 ENSG00000116254 OTTHUMG00000000952 uc001amb.3 AF425231 NM_015557 CCDS57 Q8TDI0 "11889561|12592387" MGI:3036258 RGD:1582725 610771 470086 HGNC:16816 "ENST00000262450.8|NM_015557.3" HGNC:16816 HGNC:19057 CHD6 chromodomain helicase DNA binding protein 6 protein-coding gene gene with protein product Approved 20q12 20q12 "KIAA1335|FLJ22369|dJ620E11.1|CHD5|RIGB" Myb/SANT domain containing 532 2003-03-07 2023-01-20 84181 ENSG00000124177 OTTHUMG00000032487 uc002xka.3 AF525085 NM_032221 CCDS13317 Q8TD26 11889561 MGI:1918639 RGD:1310465 616114 470090 HGNC:19057 "ENST00000373233.8|NM_032221.5" -HGNC:20626 CHD7 chromodomain helicase DNA binding protein 7 protein-coding gene gene with protein product Approved 8q12.2 08q12.2 "KIAA1416|FLJ20357|FLJ20361" CRG CHARGE association "Myb/SANT domain containing|DNA helicases" "532|1167" 2004-06-22 2023-01-20 55636 ENSG00000171316 OTTHUMG00000165332 uc003xue.4 AB037837 NM_017780 "CCDS83299|CCDS47865" Q9P2D1 "15300250|18834967" MGI:2444748 RGD:1311921 LRG_176|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_176.xml 608892 119389 HGNC:20626 "ENST00000423902.7|NM_017780.4" HGNC:20626 +HGNC:20626 CHD7 chromodomain helicase DNA binding protein 7 protein-coding gene gene with protein product Approved 8q12.2 08q12.2 "KIAA1416|FLJ20357|FLJ20361" CRG CHARGE association "Myb/SANT domain containing|DNA helicases" "532|1167" 2004-06-22 2023-01-20 55636 ENSG00000171316 OTTHUMG00000165332 uc003xue.4 AB037837 NM_017780 "CCDS47865|CCDS83299" Q9P2D1 "15300250|18834967" MGI:2444748 RGD:1311921 LRG_176|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_176.xml 608892 119389 HGNC:20626 "ENST00000423902.7|NM_017780.4" HGNC:20626 HGNC:20153 CHD8 chromodomain helicase DNA binding protein 8 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA1564|DUPLIN" HELSNF1 helicase with SNF2 domain 1 Small nucleolar RNA protein coding host genes 1835 2002-12-18 2004-06-23 2004-06-22 2023-01-20 57680 ENSG00000100888 OTTHUMG00000170759 uc001was.3 AB046784 NM_020920 "CCDS45081|CCDS53885" Q9HCK8 16949368 MGI:1915022 RGD:620696 610528 321632 HGNC:20153 "ENST00000646647.2|NM_001170629.2" HGNC:20153 -HGNC:25701 CHD9 chromodomain helicase DNA binding protein 9 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "FLJ12178|KIAA0308|BC022889" 2004-06-22 2023-01-20 80205 ENSG00000177200 OTTHUMG00000173188 uc002egy.4 AK022240 NM_025134 "CCDS92161|CCDS45485|CCDS76865" Q3L8U1 9205841 MGI:1924001 RGD:1306795 616936 HGNC:25701 "ENST00000447540.6|NM_001308319.2" +HGNC:25701 CHD9 chromodomain helicase DNA binding protein 9 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "FLJ12178|KIAA0308|BC022889" 2004-06-22 2023-01-20 80205 ENSG00000177200 OTTHUMG00000173188 uc002egy.4 AK022240 NM_025134 "CCDS45485|CCDS76865|CCDS92161" Q3L8U1 9205841 MGI:1924001 RGD:1306795 616936 HGNC:25701 "ENST00000447540.6|NM_001308319.2" HGNC:53436 CHD9NB CHD9 neighbor protein-coding gene gene with protein product Approved 16q12.2 16q12.2 PR-lncRNA-1 p53-regulated lncRNA 1 2022-09-16 2023-01-20 105371267 ENSG00000277639 OTTHUMG00000173186 NM_001396020 CCDS92160 A0A1B0GV96 "25524025|27365047" MGI:5791232 HGNC:24288 CHDH choline dehydrogenase protein-coding gene gene with protein product Approved 3p21.1 03p21.1 2004-11-24 2023-01-20 55349 ENSG00000016391 OTTHUMG00000158281 uc003dgz.4 AJ272267 NM_018397 CCDS2873 Q8NE62 MGI:1860776 RGD:735166 470092 1.1.99.1 HGNC:24288 "ENST00000315251.11|NM_018397.5" HGNC:1925 CHEK1 checkpoint kinase 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 CHK1 "CHK1 (checkpoint, S.pombe) homolog|CHK1 checkpoint homolog (S. pombe)" 1998-04-21 2011-11-11 2023-03-15 1111 ENSG00000149554 OTTHUMG00000165853 uc001qcf.5 "AF016582|BC017575" NM_001274 "CCDS58191|CCDS81645|CCDS8459" O14757 "9278511|9382850" MGI:1202065 RGD:620545 603078 470094 objectId:1987 HGNC:1925 "ENST00000438015.7|NM_001114122.3" HGNC:1925 -HGNC:16627 CHEK2 checkpoint kinase 2 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "CDS1|CHK2|HuCds1|PP1425|bA444G7" RAD53 "CHK2 (checkpoint, S.pombe) homolog|CHK2 checkpoint homolog (S. pombe)" 2001-09-19 2001-09-27 2011-11-11 2023-01-20 11200 ENSG00000183765 OTTHUMG00000151023 uc003adu.2 AF086904 NM_001005735 "CCDS33629|CCDS13844|CCDS93141|CCDS13843" O96017 "9836640|10097108" MGI:1355321 RGD:621543 LRG_302|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_302.xml CHEK2 604373 119394 objectId:1988 HGNC:16627 "ENST00000404276.6|NM_007194.4" HGNC:16627 +HGNC:16627 CHEK2 checkpoint kinase 2 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "CDS1|CHK2|HuCds1|PP1425|bA444G7" RAD53 "CHK2 (checkpoint, S.pombe) homolog|CHK2 checkpoint homolog (S. pombe)" 2001-09-19 2001-09-27 2011-11-11 2023-01-20 11200 ENSG00000183765 OTTHUMG00000151023 uc003adu.2 AF086904 NM_001005735 "CCDS93141|CCDS33629|CCDS13844|CCDS13843" O96017 "9836640|10097108" MGI:1355321 RGD:621543 LRG_302|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_302.xml CHEK2 604373 119394 objectId:1988 HGNC:16627 "ENST00000404276.6|NM_007194.4" HGNC:16627 HGNC:37999 CHEK2P1 CHEK2 pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 CHEK2L1 "CHK2 checkpoint homolog (S. pombe)-like 1|checkpoint kinase 2 pseudogene 1" 2010-06-30 2011-11-11 2019-08-14 2019-08-14 100133012 ENSG00000275828 OTTHUMG00000188082 NG_029074 PGOHUM00000233949 HGNC:37999 HGNC:43578 CHEK2P2 CHEK2 pseudogene 2 pseudogene pseudogene Approved 15q11.1 15q11.1 checkpoint kinase 2 pseudogene 2 2011-11-11 2021-07-05 2021-07-05 646096 ENSG00000259156 OTTHUMG00000171660 NR_038836 PGOHUM00000246957 HGNC:43578 HGNC:43579 CHEK2P3 CHEK2 pseudogene 3 pseudogene pseudogene Approved 2p11.1 02p11.1 checkpoint kinase 2 pseudogene 3 2011-11-11 2021-07-05 2021-07-05 100873791 ENSG00000234898 OTTHUMG00000155087 NG_032562 PGOHUM00000240775 HGNC:43579 @@ -4577,30 +4577,30 @@ HGNC:43581 CHEK2P5 CHEK2 pseudogene 5 pseudogene pseudogene Approved 10p11.1 10p HGNC:55703 CHEK2P6 CHEK2 pseudogene 6 pseudogene pseudogene Approved 16p11.2 16p11.2 2021-07-05 2021-07-05 101929031 ENSG00000261405 PGOHUM00000293547 HGNC:55704 CHEK2P7 CHEK2 pseudogene 7 pseudogene pseudogene Approved 16p11.2 16p11.2 2021-07-05 2021-07-05 121847986 ENSG00000260516 NG_084027 HGNC:16930 CHERP calcium homeostasis endoplasmic reticulum protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "ERPROT213-21|DAN16" "G-patch domain containing|Spliceosomal A complex" "579|1504" 2002-01-25 2023-01-20 10523 ENSG00000085872 OTTHUMG00000169304 uc002nei.2 U94836 NM_006387 CCDS42518 Q8IWX8 "8896557|10794731" MGI:106417 RGD:1305279 618539 HGNC:16930 "ENST00000546361.7|NM_006387.6" -HGNC:20455 CHFR checkpoint with forkhead and ring finger domains protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "FLJ10796|RNF196" Ring finger proteins 58 2003-02-14 2016-08-24 2023-01-20 55743 ENSG00000072609 OTTHUMG00000167930 uc001ulf.3 AK001658 NM_001161344 "CCDS53847|CCDS31937|CCDS53848|CCDS53849" Q96EP1 "10935642|11807090" MGI:2444898 RGD:1306360 605209 HGNC:20455 "ENST00000450056.7|NM_001161346.2" +HGNC:20455 CHFR checkpoint with forkhead and ring finger domains protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "FLJ10796|RNF196" Ring finger proteins 58 2003-02-14 2016-08-24 2023-01-20 55743 ENSG00000072609 OTTHUMG00000167930 uc001ulf.3 AK001658 NM_001161344 "CCDS53848|CCDS53849|CCDS53847|CCDS31937" Q96EP1 "10935642|11807090" MGI:2444898 RGD:1306360 605209 HGNC:20455 "ENST00000450056.7|NM_001161346.2" HGNC:55658 CHFR-DT CHFR divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Divergent transcripts 1990 2021-06-30 2021-06-30 101928530 ENSG00000236617 NR_110919 -HGNC:1929 CHGA chromogranin A protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "PHE5|PHES" "vasostatin|pancreastatin|parastatin|parathyroid secretory protein 1" "Granins|Neuropeptides" "925|1902" 2001-06-22 2015-03-16 2023-01-20 1113 ENSG00000100604 OTTHUMG00000171225 uc001ybc.6 NM_001275 "CCDS9906|CCDS76718" P10645 3403545 MGI:88394 RGD:2338 118910 ligandId:5165 HGNC:1929 "ENST00000216492.10|NM_001275.4" +HGNC:1929 CHGA chromogranin A protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "PHE5|PHES" "vasostatin|pancreastatin|parastatin|parathyroid secretory protein 1" "Granins|Neuropeptides" "925|1902" 2001-06-22 2015-03-16 2023-01-20 1113 ENSG00000100604 OTTHUMG00000171225 uc001ybc.6 NM_001275 "CCDS76718|CCDS9906" P10645 3403545 MGI:88394 RGD:2338 118910 ligandId:5165 HGNC:1929 "ENST00000216492.10|NM_001275.4" HGNC:1930 CHGB chromogranin B protein-coding gene gene with protein product Approved 20p12.3 20p12.3 SgI secretogranin B SCG1 secretogranin 1 Granins 925 1990-07-06 2015-03-16 2023-01-20 1114 ENSG00000089199 OTTHUMG00000031821 uc002wmg.4 NM_001819 CCDS13092 P05060 3608978 MGI:88395 RGD:2339 118920 HGNC:1930 "ENST00000378961.9|NM_001819.3" HGNC:1932 CHI3L1 chitinase 3 like 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "GP39|YKL40|YK-40" cartilage glycoprotein-39 chitinase 3-like 1 (cartilage glycoprotein-39) Chitinases 816 1994-12-20 2015-11-30 2023-01-20 1116 ENSG00000133048 OTTHUMG00000042122 uc001gzi.3 BC008568 NM_001276 CCDS1435 P36222 "8245017|9244440" MGI:1340899 RGD:620874 601525 objectId:2987 HGNC:1932 "ENST00000255409.8|NM_001276.4" HGNC:1932 -HGNC:1933 CHI3L2 chitinase 3 like 2 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "YKL-39|YKL39" chitinase 3-like 2 Chitinases 816 1994-12-20 2015-11-30 2023-01-20 1117 ENSG00000064886 OTTHUMG00000012174 uc057jho.1 U49835 NM_004000 "CCDS41367|CCDS30802|CCDS30803" Q15782 8702629 601526 HGNC:1933 "ENST00000369748.9|NM_004000.3" +HGNC:1933 CHI3L2 chitinase 3 like 2 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "YKL-39|YKL39" chitinase 3-like 2 Chitinases 816 1994-12-20 2015-11-30 2023-01-20 1117 ENSG00000064886 OTTHUMG00000012174 uc057jho.1 U49835 NM_004000 "CCDS30802|CCDS41367|CCDS30803" Q15782 8702629 601526 HGNC:1933 "ENST00000369748.9|NM_004000.3" HGNC:17432 CHIA chitinase acidic protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "AMCase|TSA1902|CHIT2" acidic mammalian chitinase chitinase, acidic Chitinases 816 2005-08-16 2019-01-21 2023-01-20 27159 ENSG00000134216 OTTHUMG00000011165 uc001eas.5 AF290004 NM_001040623 "CCDS58017|CCDS41368|CCDS832" Q9BZP6 11085997 MGI:1932052 RGD:1303058 606080 objectId:2982 HGNC:17432 "ENST00000369740.6|NM_201653.4" HGNC:44462 CHIAP1 chitinase, acidic pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 2012-10-11 2016-10-05 100420342 ENSG00000236040 OTTHUMG00000034492 NG_027127 PGOHUM00000258091 HGNC:44462 HGNC:44463 CHIAP2 chitinase, acidic pseudogene 2 pseudogene pseudogene Approved 1p13.2 01p13.2 2012-10-11 2012-10-11 149620 ENSG00000203878 OTTHUMG00000012173 NR_003928 PGOHUM00000258094 HGNC:44463 HGNC:44464 CHIAP3 chitinase, acidic pseudogene 3 pseudogene pseudogene Approved 1p13.2 01p13.2 2012-10-11 2012-10-11 100996315 ENSG00000234020 OTTHUMG00000011169 PGOHUM00000258073 -HGNC:1934 CHIC1 cysteine rich hydrophobic domain 1 protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 BRX cysteine-rich hydrophobic domain 1 Armadillo like helical domain containing 1492 2000-05-02 2015-11-05 2023-01-20 53344 ENSG00000204116 OTTHUMG00000021835 uc004ebk.5 Y11897 NM_001039840 "CCDS75993|CCDS35335" Q5VXU3 "9321471|11257495" MGI:1344694 RGD:1589722 300922 HGNC:1934 "ENST00000373502.10|NM_001039840.4" +HGNC:1934 CHIC1 cysteine rich hydrophobic domain 1 protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 BRX cysteine-rich hydrophobic domain 1 Armadillo like helical domain containing 1492 2000-05-02 2015-11-05 2023-01-20 53344 ENSG00000204116 OTTHUMG00000021835 uc004ebk.5 Y11897 NM_001039840 "CCDS35335|CCDS75993" Q5VXU3 "9321471|11257495" MGI:1344694 RGD:1589722 300922 HGNC:1934 "ENST00000373502.10|NM_001039840.4" HGNC:1935 CHIC2 cysteine rich hydrophobic domain 2 protein-coding gene gene with protein product Approved 4q12 04q12 BTL cysteine-rich hydrophobic domain 2 2000-05-02 2015-11-05 2023-01-20 26511 ENSG00000109220 OTTHUMG00000102101 uc003haj.3 AF159423 NM_012110 CCDS3493 Q9UKJ5 10477709 MGI:1921527 RGD:1309278 604332 HGNC:1935 "ENST00000263921.8|NM_012110.4" HGNC:1935 -HGNC:28474 CHID1 chitinase domain containing 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "MGC3234|FLJ42707|SI-CLP" stabilin-1 interacting chitinase-like protein Chitinases 816 2005-10-27 2023-01-20 66005 ENSG00000177830 OTTHUMG00000133314 uc010qww.3 AK124697 NM_023947 "CCDS7722|CCDS44511|CCDS44510" Q9BWS9 MGI:1915288 RGD:1308955 615692 HGNC:28474 "ENST00000323578.13|NM_023947.4" +HGNC:28474 CHID1 chitinase domain containing 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "MGC3234|FLJ42707|SI-CLP" stabilin-1 interacting chitinase-like protein Chitinases 816 2005-10-27 2023-01-20 66005 ENSG00000177830 OTTHUMG00000133314 uc010qww.3 AK124697 NM_023947 "CCDS44511|CCDS7722|CCDS44510" Q9BWS9 MGI:1915288 RGD:1308955 615692 HGNC:28474 "ENST00000323578.13|NM_023947.4" HGNC:55933 CHILL1 cancer hallmarks in lung lncRNA 1 non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 Long non-coding RNAs with non-systematic symbols 1992 2022-10-26 2022-11-08 2023-04-26 ENSG00000253616 36778670 HGNC:1936 CHIT1 chitinase 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "CHIT|CHI3" chitotriosidase chitinase 1 (chitotriosidase) Chitinases 816 1996-06-05 2015-11-30 2023-01-20 1118 ENSG00000133063 OTTHUMG00000042126 uc001gzn.3 U29615 NM_003465 "CCDS58057|CCDS1436" Q13231 "9748235|9492324" MGI:1919134 RGD:1305646 600031 objectId:3187 HGNC:1936 "ENST00000367229.6|NM_003465.3" -HGNC:1937 CHKA choline kinase alpha protein-coding gene gene with protein product Approved 11q13.2 11q13.2 CKI CHK choline kinase 1994-01-15 2004-04-21 2004-04-19 2023-01-20 1119 ENSG00000110721 OTTHUMG00000167424 uc001onj.4 D10704 NM_001277 "CCDS8178|CCDS8179" P35790 "1618328|15003397" MGI:107760 RGD:61944 118491 2.7.1.32 HGNC:1937 "ENST00000265689.9|NM_001277.3" +HGNC:1937 CHKA choline kinase alpha protein-coding gene gene with protein product Approved 11q13.2 11q13.2 CKI CHK choline kinase 1994-01-15 2004-04-21 2004-04-19 2023-01-20 1119 ENSG00000110721 OTTHUMG00000167424 uc001onj.4 D10704 NM_001277 "CCDS8179|CCDS8178" P35790 "1618328|15003397" MGI:107760 RGD:61944 118491 2.7.1.32 HGNC:1937 "ENST00000265689.9|NM_001277.3" HGNC:55504 CHKA-DT CHKA divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Divergent transcripts 1990 2021-03-17 2021-03-17 105369362 ENSG00000255236 NR_183630 HGNC:1938 CHKB choline kinase beta protein-coding gene gene with protein product Approved 22q13.33 22q13.33 CHETK CHKL choline kinase-like 1996-12-18 2004-04-19 2004-04-19 2023-01-20 1120 ENSG00000100288 OTTHUMG00000150275 uc003bmv.4 AB029886 NM_005198 CCDS14099 Q9Y259 "9224698|15003397" MGI:1328313 RGD:61826 LRG_855|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_855.xml 612395 280675 HGNC:1938 "ENST00000406938.3|NM_005198.5" HGNC:1938 HGNC:41998 CHKB-CPT1B CHKB-CPT1B readthrough (NMD candidate) other readthrough Approved 22q13.33 22q13.33 2011-05-31 2013-05-09 2014-11-19 386593 ENSG00000254413 OTTHUMG00000166282 uc062fnj.1 NR_027928.2 HGNC:41998 HGNC:40146 CHKB-DT CHKB divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.33 22q13.33 "TCONS_00029632|HRAT" lncRNA-Hypoxia/reoxygenation-associated transcript CHKB-AS1 CHKB antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-17 2018-03-22 2018-03-22 2022-11-11 100144603 ENSG00000205559 OTTHUMG00000150208 NR_110536 36172578 CHKB-AS1 HGNC:40146 -HGNC:1939 CHL1 cell adhesion molecule L1 like protein-coding gene gene with protein product Approved 3p26.3 03p26.3 "CALL|L1CAM2|FLJ44930|MGC132578" "neural cell adhesion molecule|close homolog of L1" "cell adhesion molecule with homology to L1CAM (close homologue of L1)|cell adhesion molecule with homology to L1CAM (close homolog of L1)|cell adhesion molecule L1-like" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1998-10-14 2016-01-26 2023-01-20 10752 ENSG00000134121 OTTHUMG00000090601 uc003bot.4 AF002246 NM_006614 "CCDS2556|CCDS74887|CCDS58812" O00533 9799093 MGI:1098266 RGD:620122 607416 166396 HGNC:1939 "ENST00000256509.7|NM_006614.4" +HGNC:1939 CHL1 cell adhesion molecule L1 like protein-coding gene gene with protein product Approved 3p26.3 03p26.3 "CALL|L1CAM2|FLJ44930|MGC132578" "neural cell adhesion molecule|close homolog of L1" "cell adhesion molecule with homology to L1CAM (close homologue of L1)|cell adhesion molecule with homology to L1CAM (close homolog of L1)|cell adhesion molecule L1-like" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1998-10-14 2016-01-26 2023-01-20 10752 ENSG00000134121 OTTHUMG00000090601 uc003bot.4 AF002246 NM_006614 "CCDS2556|CCDS58812|CCDS74887" O00533 9799093 MGI:1098266 RGD:620122 607416 166396 HGNC:1939 "ENST00000256509.7|NM_006614.4" HGNC:40148 CHL1-AS1 CHL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p26.3 03p26.3 CHL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 101927193 ENSG00000234661 OTTHUMG00000154873 uc003box.2 NR_110739 CHL1-AS1 HGNC:40148 HGNC:40147 CHL1-AS2 CHL1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p26.3 03p26.3 CHL1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2020-04-20 101927174 ENSG00000224318 OTTHUMG00000154872 uc062gam.1 NR_144486 CHL1-AS2 HGNC:40147 -HGNC:1940 CHM CHM Rab escort protein protein-coding gene gene with protein product Approved Xq21.2 Xq21.2 REP-1 Rab escort protein 1 "TCD|DXS540" "choroideremia (Rab escort protein 1)|CHM, Rab escort protein 1" MicroRNA protein coding host genes 1691 2001-06-22 2019-01-31 2023-03-15 1121 ENSG00000188419 OTTHUMG00000021937 uc004eet.3 X78121 NM_000390 "CCDS14454|CCDS48139" P24386 1373238 MGI:892979 RGD:2340 "Mutations of the Rab Escort Protein 1|http://www.retina-international.org/files/sci-news/repmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CHM|LRG_699|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_699.xml" 300390 119402 HGNC:1940 "ENST00000357749.7|NM_000390.4" HGNC:1940 +HGNC:1940 CHM CHM Rab escort protein protein-coding gene gene with protein product Approved Xq21.2 Xq21.2 REP-1 Rab escort protein 1 "TCD|DXS540" "choroideremia (Rab escort protein 1)|CHM, Rab escort protein 1" MicroRNA protein coding host genes 1691 2001-06-22 2019-01-31 2023-03-15 1121 ENSG00000188419 OTTHUMG00000021937 uc004eet.3 X78121 NM_000390 "CCDS48139|CCDS14454" P24386 1373238 MGI:892979 RGD:2340 "Mutations of the Rab Escort Protein 1|http://www.retina-international.org/files/sci-news/repmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CHM|LRG_699|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_699.xml" 300390 119402 HGNC:1940 "ENST00000357749.7|NM_000390.4" HGNC:1940 HGNC:1941 CHML CHM like Rab escort protein protein-coding gene gene with protein product Approved 1q43 01q43 REP-2 Rab escort protein 2 "choroideremia-like (Rab escort protein 2)|CHM like Rab escort protein 2" 1992-11-03 2019-01-31 2023-01-20 1122 ENSG00000203668 OTTHUMG00000039690 uc001hzd.4 X64728 NM_001821 CCDS31073 P26374 7981670 MGI:101913 RGD:1596201 118825 HGNC:1941 "ENST00000366553.3|NM_001381853.1" HGNC:8740 CHMP1A charged multivesicular body protein 1A protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "KIAA0047|CHMP1|Vps46A" "PRSM1|PCOLN3" "procollagen (type III) N-endopeptidase|chromatin modifying protein 1A" "Charged multivesicular body proteins|ESCRT-III associated factors" "482|1119" 1993-05-03 2007-03-20 2011-09-21 2023-03-15 5119 ENSG00000131165 OTTHUMG00000169521 uc002fnu.5 U58048 NM_002768 CCDS45552 Q9HD42 "11559748|11559747" MGI:1920159 RGD:1311083 164010 327388 HGNC:8740 "ENST00000397901.8|NM_002768.5" HGNC:8740 HGNC:39514 CHMP1AP1 charged multivesicular body protein 1A pseudogene 1 pseudogene pseudogene Approved 1p35.3 01p35.3 chromatin modifying protein 1A pseudogene 1 2011-02-07 2011-09-21 2011-09-21 646597 ENSG00000226662 OTTHUMG00000003514 NG_007362 PGOHUM00000243947 HGNC:39514 @@ -4609,21 +4609,21 @@ HGNC:52778 CHMP1B-AS1 CHMP1B antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:49380 CHMP1B2P charged multivesicular body protein 1B2, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-10-22 2019-12-17 101060146 ENSG00000278530 OTTHUMG00000021903 NR_110646 MGI:1914278 RGD:1566265 PGOHUM00000258429 HGNC:49380 HGNC:30216 CHMP2A charged multivesicular body protein 2A protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "BC-2|CHMP2|VPS2|VPS2A" "putative breast adenocarcinoma marker (32kD)|VPS2 homolog A (S. cerevisiae)" chromatin modifying protein 2A "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2005-04-04 2011-09-21 2023-01-20 27243 ENSG00000130724 OTTHUMG00000183547 uc002qtk.4 AF042384 NM_014453 CCDS12986 O43633 "15173323|11559748" MGI:1916203 RGD:1305050 610893 HGNC:30216 "ENST00000312547.7|NM_014453.4" HGNC:24537 CHMP2B charged multivesicular body protein 2B protein-coding gene gene with protein product Approved 3p11.2 03p11.2 "DKFZP564O123|CHMP2.5|VPS2B" VPS2 homolog B (S. cerevisiae) chromatin modifying protein 2B "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2005-04-04 2011-09-21 2023-01-20 25978 ENSG00000083937 OTTHUMG00000158982 uc003dqp.5 BC001553 NM_014043 "CCDS58840|CCDS2918" Q9UQN3 11559748 MGI:1916192 RGD:1306781 609512 119407 HGNC:24537 "ENST00000263780.9|NM_014043.4" HGNC:24537 -HGNC:29865 CHMP3 charged multivesicular body protein 3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "NEDF|CGI-149" VPS24 "vacuolar protein sorting 24 (yeast)|vacuolar protein sorting 24 homolog (S. cerevisiae)" "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2004-03-11 2011-09-21 2011-09-21 2023-01-20 51652 ENSG00000115561 OTTHUMG00000153189 uc002srj.4 AF219226 NM_016079 "CCDS54375|CCDS33236|CCDS42707" Q9Y3E7 "11549700|12878588" MGI:1913950 RGD:708556 610052 HGNC:29865 "ENST00000263856.9|NM_016079.4" +HGNC:29865 CHMP3 charged multivesicular body protein 3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "NEDF|CGI-149" VPS24 "vacuolar protein sorting 24 (yeast)|vacuolar protein sorting 24 homolog (S. cerevisiae)" "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2004-03-11 2011-09-21 2011-09-21 2023-01-20 51652 ENSG00000115561 OTTHUMG00000153189 uc002srj.4 AF219226 NM_016079 "CCDS33236|CCDS42707|CCDS54375" Q9Y3E7 "11549700|12878588" MGI:1913950 RGD:708556 610052 HGNC:29865 "ENST00000263856.9|NM_016079.4" HGNC:55795 CHMP3-AS1 CHMP3 and RNF103 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Antisense RNAs 1987 2021-07-29 2021-07-29 105374845 ENSG00000228363 NR_183900 HGNC:20274 CHMP4A charged multivesicular body protein 4A protein-coding gene gene with protein product Approved 14q12 14q12 "HSPC134|VPS32A" C14orf123 "chromosome 14 open reading frame 123|chromatin modifying protein 4A" "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2003-01-17 2005-04-04 2011-09-21 2023-01-20 29082 ENSG00000254505 OTTHUMG00000167036 uc059abq.1 AF212243 NM_014169 CCDS9619 Q9BY43 610051 HGNC:20274 "ENST00000347519.12|NM_014169.5" HGNC:54739 CHMP4AP1 CHMP4A pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2019-12-19 2020-01-21 100130209 ENSG00000231722 NG_021509 HGNC:16171 CHMP4B charged multivesicular body protein 4B protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "dJ553F4.4|Shax1|SNF7-2|VPS32B" C20orf178 "chromosome 20 open reading frame 178|chromatin modifying protein 4B" "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2001-07-17 2005-04-04 2011-09-21 2023-01-20 128866 ENSG00000101421 OTTHUMG00000032272 uc002xaa.4 AL050349 NM_176812 CCDS13228 Q9H444 14678797 MGI:1922858 RGD:1309846 610897 139158 HGNC:16171 "ENST00000217402.3|NM_176812.5" HGNC:16171 HGNC:43616 CHMP4BP1 charged multivesicular body protein 4B pseudogene 1 pseudogene pseudogene Approved 14q22.3 14q22.3 2011-12-01 2011-12-01 100307126 ENSG00000258469 OTTHUMG00000171034 NG_013059 P59074 PGOHUM00000248177 HGNC:43616 HGNC:30599 CHMP4C charged multivesicular body protein 4C protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "MGC22825|Shax3|VPS32C" Snf7 homologue associated with Alix 3 chromatin modifying protein 4C "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2005-04-04 2011-09-21 2023-01-20 92421 ENSG00000164695 OTTHUMG00000164726 uc003ycl.4 AK000049 NM_152284 CCDS6233 Q96CF2 "12860994|14678797" MGI:1913621 RGD:1564543 610899 HGNC:30599 "ENST00000297265.5|NM_152284.4" -HGNC:26942 CHMP5 charged multivesicular body protein 5 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "HSPC177|CGI-34|Vps60" "C9orf83|SNF7DC2" "chromosome 9 open reading frame 83|chromatin modifying protein 5" "Charged multivesicular body proteins|ESCRT-III associated factors" "482|1119" 2005-04-04 2005-08-09 2011-09-21 2023-01-20 51510 ENSG00000086065 OTTHUMG00000019765 uc003zsm.5 AF132968 NM_016410 "CCDS56569|CCDS6537" Q9NZZ3 "15644320|11559748" MGI:1924209 RGD:1305968 610900 HGNC:26942 "ENST00000223500.9|NM_016410.6" +HGNC:26942 CHMP5 charged multivesicular body protein 5 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "HSPC177|CGI-34|Vps60" "C9orf83|SNF7DC2" "chromosome 9 open reading frame 83|chromatin modifying protein 5" "Charged multivesicular body proteins|ESCRT-III associated factors" "482|1119" 2005-04-04 2005-08-09 2011-09-21 2023-01-20 51510 ENSG00000086065 OTTHUMG00000019765 uc003zsm.5 AF132968 NM_016410 "CCDS6537|CCDS56569" Q9NZZ3 "15644320|11559748" MGI:1924209 RGD:1305968 610900 HGNC:26942 "ENST00000223500.9|NM_016410.6" HGNC:54950 CHMP5P1 CHMP5 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-05-01 2020-05-01 100420317 ENSG00000215284 NG_026686 HGNC:25675 CHMP6 charged multivesicular body protein 6 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ11749|VPS20" chromatin modifying protein 6 "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2005-04-04 2011-09-21 2023-01-20 79643 ENSG00000176108 OTTHUMG00000177645 uc002jyw.4 BC010108 NM_024591 CCDS11774 Q96FZ7 "11559748|15511219" MGI:3583942 RGD:1565325 610901 HGNC:25675 "ENST00000325167.9|NM_024591.5" HGNC:28439 CHMP7 charged multivesicular body protein 7 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 MGC29816 CHMP family, member 7 "Charged multivesicular body proteins|ESCRT-III associated factors" "482|1119" 2005-04-04 2011-09-21 2023-01-20 91782 ENSG00000147457 OTTHUMG00000131785 uc003xdc.3 BC019110 NM_152272 CCDS6040 Q8WUX9 16856878 MGI:1913922 RGD:1308779 611130 HGNC:28439 "ENST00000397677.6|NM_152272.5" -HGNC:1943 CHN1 chimerin 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "RhoGAP2|ARHGAP2|n-chimerin" "Chimerin 1 (GTPase-activating protein, rho, 2)|chimaerin 1" "CHN|DURS2" "Duane retraction syndrome 2|chimerin (chimaerin) 1" "Rho GTPase activating proteins|SH2 domain containing" "721|741" 1991-07-12 2012-10-17 2023-01-20 1123 ENSG00000128656 OTTHUMG00000154225 uc002uji.4 NM_001822 "CCDS46455|CCDS46454|CCDS56147" P15882 "2299665|15013773|18653847" MGI:1915674 RGD:620139 118423 182553 HGNC:1943 "ENST00000409900.9|NM_001822.7" HGNC:1943 -HGNC:1944 CHN2 chimerin 2 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "ARHGAP3|RhoGAP3" "beta chimerin|chimaerin 2" chimerin (chimaerin) 2 "Rho GTPase activating proteins|SH2 domain containing" "721|741" 1997-08-28 2012-10-17 2023-03-15 1124 ENSG00000106069 OTTHUMG00000023063 uc003szz.4 L29126 NM_004067 "CCDS78218|CCDS47566|CCDS94073|CCDS94072|CCDS78220|CCDS5420|CCDS78219|CCDS78217" P52757 8175705 MGI:1917243 RGD:620140 602857 HGNC:1944 "ENST00000222792.11|NM_004067.4" +HGNC:1943 CHN1 chimerin 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "RhoGAP2|ARHGAP2|n-chimerin" "Chimerin 1 (GTPase-activating protein, rho, 2)|chimaerin 1" "CHN|DURS2" "Duane retraction syndrome 2|chimerin (chimaerin) 1" "Rho GTPase activating proteins|SH2 domain containing" "721|741" 1991-07-12 2012-10-17 2023-01-20 1123 ENSG00000128656 OTTHUMG00000154225 uc002uji.4 NM_001822 "CCDS56147|CCDS46454|CCDS46455" P15882 "2299665|15013773|18653847" MGI:1915674 RGD:620139 118423 182553 HGNC:1943 "ENST00000409900.9|NM_001822.7" HGNC:1943 +HGNC:1944 CHN2 chimerin 2 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "ARHGAP3|RhoGAP3" "beta chimerin|chimaerin 2" chimerin (chimaerin) 2 "Rho GTPase activating proteins|SH2 domain containing" "721|741" 1997-08-28 2012-10-17 2023-03-15 1124 ENSG00000106069 OTTHUMG00000023063 uc003szz.4 L29126 NM_004067 "CCDS94072|CCDS47566|CCDS78219|CCDS78220|CCDS94073|CCDS5420|CCDS78218|CCDS78217" P52757 8175705 MGI:1917243 RGD:620140 602857 HGNC:1944 "ENST00000222792.11|NM_004067.4" HGNC:40149 CHN2-AS1 CHN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 Antisense RNAs 1987 2019-07-24 2019-07-24 102724484 ENSG00000235669 OTTHUMG00000152748 NR_120522 HGNC:40149 -HGNC:17807 CHODL chondrolectin protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "FLJ12627|PRED12|MT75" C21orf68 chromosome 21 open reading frame 68 C-type lectin domain containing 1298 2001-12-14 2002-07-04 2023-01-20 140578 ENSG00000154645 OTTHUMG00000074519 uc002ykv.5 AF257472 NM_024944 "CCDS56210|CCDS56208|CCDS13570|CCDS56209" Q9H9P2 12079284 MGI:2179069 RGD:1309885 607247 HGNC:17807 "ENST00000299295.7|NM_024944.3" +HGNC:17807 CHODL chondrolectin protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "FLJ12627|PRED12|MT75" C21orf68 chromosome 21 open reading frame 68 C-type lectin domain containing 1298 2001-12-14 2002-07-04 2023-01-20 140578 ENSG00000154645 OTTHUMG00000074519 uc002ykv.5 AF257472 NM_024944 "CCDS56208|CCDS56210|CCDS56209|CCDS13570" Q9H9P2 12079284 MGI:2179069 RGD:1309885 607247 HGNC:17807 "ENST00000299295.7|NM_024944.3" HGNC:1279 CHODL-AS1 CHODL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 "C21orf39|NCRNA00157" "chromosome 21 open reading frame 39|non-protein coding RNA 157|CHODL antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2000-05-23 2011-08-11 2012-08-15 2012-10-12 54075 ENSG00000231755 OTTHUMG00000074500 uc011aca.2 NR_024354 CHODL-AS1 HGNC:1279 HGNC:14525 CHORDC1 cysteine and histidine rich domain containing 1 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "CHP1|CHP-1" morgana cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1 2001-02-28 2015-11-05 2023-01-20 26973 ENSG00000110172 OTTHUMG00000167305 uc001pdg.4 AF192466 NM_012124 "CCDS8289|CCDS44705" Q9UHD1 10571178 MGI:1914167 RGD:1304679 604353 HGNC:14525 "ENST00000320585.11|NM_012124.3" HGNC:54687 CHORDC1P1 CHORDC1 pseudogene 1 pseudogene pseudogene Approved 2p21 02p21 2019-11-28 2020-01-21 100128048 ENSG00000232202 NG_009413 @@ -4636,12 +4636,12 @@ HGNC:54895 CHP1P1 CHP1 pseudogene 1 pseudogene pseudogene Approved 5q13.2 05q13. HGNC:54896 CHP1P2 CHP1 pseudogene 2 pseudogene pseudogene Approved 6q25.3 06q25.3 2020-04-17 2020-04-17 729603 ENSG00000213073 NR_003288 HGNC:54897 CHP1P3 CHP1 pseudogene 3 pseudogene pseudogene Approved Xp22.13 Xp22.13 2020-04-17 2020-04-17 117369447 ENSG00000226153 NG_011553 HGNC:24927 CHP2 calcineurin like EF-hand protein 2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 EF-hand domain containing 863 2012-05-16 2016-01-29 2023-01-20 63928 ENSG00000166869 OTTHUMG00000131611 uc002dmb.2 NM_022097 CCDS10617 O43745 12226101 MGI:1917511 RGD:727796 HGNC:24927 "ENST00000300113.3|NM_022097.4" -HGNC:24291 CHPF chondroitin polymerizing factor protein-coding gene gene with protein product Approved 2q35 02q35 "CSS2|CHSY2|CHPF1" chondroitin sulfate synthase 2 "Beta 4-glycosyltransferases|Beta 3-glycosyltransferases" "425|426" 2008-01-29 2023-05-16 79586 ENSG00000123989 OTTHUMG00000058929 uc002vmc.5 BC008878 NM_024536 "CCDS2443|CCDS56169" Q8IZ52 "11230166|12716890" MGI:106576 RGD:1359458 610405 "2.4.1.175|2.4.1.226" HGNC:24291 "ENST00000243776.11|NM_024536.6" -HGNC:29270 CHPF2 chondroitin polymerizing factor 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "KIAA1402|ChSy-3|CSGlcA-T" chondroitin sulfate glucuronyltransferase "Beta 4-glycosyltransferases|Beta 3-glycosyltransferases|MicroRNA protein coding host genes" "425|426|1691" 2009-07-15 2023-01-20 54480 ENSG00000033100 OTTHUMG00000157380 uc003wjr.3 AB037823 NM_019015 "CCDS34779|CCDS94233|CCDS64803|CCDS94234" Q9P2E5 "10718198|12145278|18316376" MGI:1917522 RGD:1306404 608037 2.4.1.226 HGNC:29270 "ENST00000035307.7|NM_019015.3" +HGNC:24291 CHPF chondroitin polymerizing factor protein-coding gene gene with protein product Approved 2q35 02q35 "CSS2|CHSY2|CHPF1" chondroitin sulfate synthase 2 "Beta 4-glycosyltransferases|Beta 3-glycosyltransferases" "425|426" 2008-01-29 2023-05-16 79586 ENSG00000123989 OTTHUMG00000058929 uc002vmc.5 BC008878 NM_024536 "CCDS56169|CCDS2443" Q8IZ52 "11230166|12716890" MGI:106576 RGD:1359458 610405 "2.4.1.175|2.4.1.226" HGNC:24291 "ENST00000243776.11|NM_024536.6" +HGNC:29270 CHPF2 chondroitin polymerizing factor 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "KIAA1402|ChSy-3|CSGlcA-T" chondroitin sulfate glucuronyltransferase "Beta 4-glycosyltransferases|Beta 3-glycosyltransferases|MicroRNA protein coding host genes" "425|426|1691" 2009-07-15 2023-01-20 54480 ENSG00000033100 OTTHUMG00000157380 uc003wjr.3 AB037823 NM_019015 "CCDS94234|CCDS64803|CCDS94233|CCDS34779" Q9P2E5 "10718198|12145278|18316376" MGI:1917522 RGD:1306404 608037 2.4.1.226 HGNC:29270 "ENST00000035307.7|NM_019015.3" HGNC:17852 CHPT1 choline phosphotransferase 1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 CPT1 phosphatidylcholine synthesizing enzyme 2002-01-21 2023-01-20 56994 ENSG00000111666 OTTHUMG00000170443 uc001tin.4 NM_020244 CCDS9086 Q8WUD6 10893425 MGI:2384841 RGD:1359283 616747 2.7.8.2 HGNC:17852 "ENST00000229266.8|NM_020244.3" HGNC:13544 CHRAC1 chromatin accessibility complex subunit 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "CHRAC15|YCL1" histone-fold protein CHRAC15 Chromatin accessibility complex 1633 2000-11-09 2018-07-11 2023-01-20 54108 ENSG00000104472 OTTHUMG00000164207 uc003yvl.4 AF226076 NM_017444 CCDS6379 Q9NRG0 "10880450|11000277" MGI:2135796 RGD:1309321 607268 HGNC:13544 "ENST00000220913.10|NM_017444.6" -HGNC:1949 CHRD chordin protein-coding gene gene with protein product Approved 3q27.1 03q27.1 Chordin family 1661 1998-11-06 2023-03-15 8646 ENSG00000090539 OTTHUMG00000141267 uc003fov.3 AF076612 NM_003741 "CCDS3266|CCDS77868" Q9H2X0 "9782094|11472837" MGI:1313268 RGD:620181 603475 HGNC:1949 "ENST00000204604.6|NM_003741.4" -HGNC:29861 CHRDL1 chordin like 1 protein-coding gene gene with protein product Approved Xq23 Xq23 "NRLN1|CHL" MGC1 megalocornea 1 (X-linked) Chordin family 1661 2004-01-28 2016-06-21 2023-01-20 91851 ENSG00000101938 OTTHUMG00000022199 uc065arx.1 AL049176 NM_145234 "CCDS48149|CCDS48150|CCDS14553|CCDS48148" Q9BU40 "11441185|11118896|22284829" MGI:1933172 RGD:735215 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CHRDL1 300350 292376 HGNC:29861 "ENST00000372042.6|NM_001143981.2" HGNC:29861 +HGNC:1949 CHRD chordin protein-coding gene gene with protein product Approved 3q27.1 03q27.1 Chordin family 1661 1998-11-06 2023-03-15 8646 ENSG00000090539 OTTHUMG00000141267 uc003fov.3 AF076612 NM_003741 "CCDS77868|CCDS3266" Q9H2X0 "9782094|11472837" MGI:1313268 RGD:620181 603475 HGNC:1949 "ENST00000204604.6|NM_003741.4" +HGNC:29861 CHRDL1 chordin like 1 protein-coding gene gene with protein product Approved Xq23 Xq23 "NRLN1|CHL" MGC1 megalocornea 1 (X-linked) Chordin family 1661 2004-01-28 2016-06-21 2023-01-20 91851 ENSG00000101938 OTTHUMG00000022199 uc065arx.1 AL049176 NM_145234 "CCDS48150|CCDS14553|CCDS48149|CCDS48148" Q9BU40 "11441185|11118896|22284829" MGI:1933172 RGD:735215 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CHRDL1 300350 292376 HGNC:29861 "ENST00000372042.6|NM_001143981.2" HGNC:29861 HGNC:24168 CHRDL2 chordin like 2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 BNF1 "Chordin family|MicroRNA protein coding host genes" "1661|1691" 2004-01-28 2016-06-21 2023-01-20 25884 ENSG00000054938 OTTHUMG00000165623 uc001ovh.5 AL110168 NM_001278473 "CCDS60893|CCDS8234" Q6WN34 "12853144|12975309" MGI:1916371 RGD:1306179 613127 HGNC:24168 "ENST00000376332.8|NM_001278473.3" HGNC:15781 CHRFAM7A CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion protein-coding gene gene with protein product Approved 15q13.2 15q13.2 "D-10|CHRNA7-DR1" CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion 2001-06-29 2016-03-03 2023-01-20 89832 ENSG00000166664 OTTHUMG00000175645 uc001zdt.2 AF029838 NM_148911 "CCDS32184|CCDS42008" Q494W8 11829490 MGI:99779 609756 HGNC:15781 "ENST00000299847.7|NM_139320.2" HGNC:37766 CHRFAM7AP1 CHRFAM7A pseudogene 1 pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-02-16 2016-10-05 359999 NG_004755 12815422 HGNC:37766 @@ -4654,18 +4654,18 @@ HGNC:43725 CHRM3-AS2 CHRM3 antisense RNA 2 non-coding RNA RNA, long non-coding A HGNC:1953 CHRM4 cholinergic receptor muscarinic 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 acetylcholine receptor, muscarinic 4 Cholinergic receptors muscarinic 180 1989-04-21 2016-03-03 2023-01-20 1132 ENSG00000180720 OTTHUMG00000154371 uc001nct.2 M16405 NM_000741 CCDS44581 P08173 1577490 MGI:88399 RGD:2344 118495 objectId:16 HGNC:1953 "ENST00000682254.1|NM_000741.5" HGNC:1954 CHRM5 cholinergic receptor muscarinic 5 protein-coding gene gene with protein product Approved 15q14 15q14 acetylcholine receptor, muscarinic 5 Cholinergic receptors muscarinic 180 1989-04-21 2016-03-03 2023-01-20 1133 ENSG00000184984 OTTHUMG00000129369 uc001zhk.2 NM_001320917 CCDS10031 P08912 MGI:109248 RGD:620027 118496 objectId:17 HGNC:1954 "ENST00000383263.7|NM_012125.4" HGNC:1955 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit protein-coding gene gene with protein product Approved 2q31.1 02q31.1 acetylcholine receptor, nicotinic, alpha 1 (muscle) CHRNA "cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)|cholinergic receptor, nicotinic, alpha 1 (muscle)|cholinergic receptor, nicotinic alpha 1" Cholinergic receptors nicotinic subunits 173 1989-05-25 2016-02-04 2023-01-20 1134 ENSG00000138435 OTTHUMG00000132357 uc002uje.3 Y00762 NM_000079 "CCDS33331|CCDS2261" P02708 MGI:87885 RGD:69277 100690 119411 objectId:462 HGNC:1955 "ENST00000348749.9|NM_000079.4" HGNC:1955 -HGNC:1956 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit protein-coding gene gene with protein product Approved 8p21.2 08p21.2 acetylcholine receptor, nicotinic, alpha 2 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)|cholinergic receptor, nicotinic, alpha 2 (neuronal)|cholinergic receptor, nicotinic alpha 2" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2023-01-20 1135 ENSG00000120903 OTTHUMG00000102083 uc010lur.5 U62431 NM_000742 "CCDS64856|CCDS6059" Q15822 1505988 MGI:87886 RGD:621533 118502 159345 objectId:463 HGNC:1956 "ENST00000407991.3|NM_000742.4" HGNC:1956 +HGNC:1956 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit protein-coding gene gene with protein product Approved 8p21.2 08p21.2 acetylcholine receptor, nicotinic, alpha 2 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)|cholinergic receptor, nicotinic, alpha 2 (neuronal)|cholinergic receptor, nicotinic alpha 2" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2023-01-20 1135 ENSG00000120903 OTTHUMG00000102083 uc010lur.5 U62431 NM_000742 "CCDS6059|CCDS64856" Q15822 1505988 MGI:87886 RGD:621533 118502 159345 objectId:463 HGNC:1956 "ENST00000407991.3|NM_000742.4" HGNC:1956 HGNC:1957 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit protein-coding gene gene with protein product Approved 15q25.1 15q25.1 acetylcholine receptor, nicotinic, alpha 3 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 3|cholinergic receptor, nicotinic, alpha 3 (neuronal)|cholinergic receptor, nicotinic alpha 3" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2023-01-20 1136 ENSG00000080644 OTTHUMG00000143863 uc002bec.4 NM_000743 "CCDS10305|CCDS53964" P32297 2004777 MGI:87887 RGD:2345 118503 objectId:464 HGNC:1957 "ENST00000326828.6|NM_000743.5" HGNC:1958 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit protein-coding gene gene with protein product Approved 20q13.33 20q13.33 BFNC acetylcholine receptor, nicotinic, alpha 4 (neuronal) "EBN|EBN1" "cholinergic receptor, nicotinic, alpha polypeptide 4|cholinergic receptor, nicotinic, alpha 4 (neuronal)|cholinergic receptor, nicotinic alpha 4" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2023-01-20 1137 ENSG00000101204 OTTHUMG00000033080 uc002yes.4 NM_000744 CCDS13517 P43681 1505988 MGI:87888 RGD:2346 118504 119414 objectId:465 HGNC:1958 "ENST00000370263.9|NM_000744.7" HGNC:1958 HGNC:1959 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit protein-coding gene gene with protein product Approved 15q25.1 15q25.1 acetylcholine receptor, nicotinic, alpha 5 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 5|cholinergic receptor, nicotinic, alpha 5 (neuronal)|cholinergic receptor, nicotinic alpha 5" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2023-01-20 1138 ENSG00000169684 OTTHUMG00000143858 uc002bdy.3 NM_000745 "CCDS76786|CCDS10304" P30532 2004777 MGI:87889 RGD:2347 118505 objectId:466 HGNC:1959 "ENST00000299565.9|NM_000745.4" HGNC:15963 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit protein-coding gene gene with protein product Approved 8p11.21 08p11.21 acetylcholine receptor, nicotinic, alpha 6 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 6|cholinergic receptor, nicotinic, alpha 6 (neuronal)|cholinergic receptor, nicotinic alpha 6" Cholinergic receptors nicotinic subunits 173 2001-06-25 2016-02-04 2023-01-20 8973 ENSG00000147434 OTTHUMG00000165275 uc003xpj.5 U62435 NM_001199279 "CCDS6135|CCDS56536" Q15825 8906617 MGI:106213 RGD:69281 606888 objectId:467 HGNC:15963 "ENST00000276410.7|NM_004198.3" -HGNC:1960 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit protein-coding gene gene with protein product Approved 15q13.3 15q13.3 acetylcholine receptor, nicotinic, alpha 7 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 7|cholinergic receptor, nicotinic, alpha 7 (neuronal)|cholinergic receptor, nicotinic alpha 7" Cholinergic receptors nicotinic subunits 173 1993-05-25 2016-02-04 2023-01-20 1139 ENSG00000175344 OTTHUMG00000129285 uc001zft.5 Z23141 NM_000746 "CCDS53924|CCDS10027" P36544 8188270 MGI:99779 RGD:2348 118511 264663 objectId:468 HGNC:1960 "ENST00000306901.9|NM_000746.6" HGNC:1960 +HGNC:1960 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit protein-coding gene gene with protein product Approved 15q13.3 15q13.3 acetylcholine receptor, nicotinic, alpha 7 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 7|cholinergic receptor, nicotinic, alpha 7 (neuronal)|cholinergic receptor, nicotinic alpha 7" Cholinergic receptors nicotinic subunits 173 1993-05-25 2016-02-04 2023-01-20 1139 ENSG00000175344 OTTHUMG00000129285 uc001zft.5 Z23141 NM_000746 "CCDS10027|CCDS53924" P36544 8188270 MGI:99779 RGD:2348 118511 264663 objectId:468 HGNC:1960 "ENST00000306901.9|NM_000746.6" HGNC:1960 HGNC:14079 CHRNA9 cholinergic receptor nicotinic alpha 9 subunit protein-coding gene gene with protein product Approved 4p14 04p14 NACHRA9 acetylcholine receptor, nicotinic, alpha 9 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 9|cholinergic receptor, nicotinic, alpha 9 (neuronal)|cholinergic receptor, nicotinic alpha 9" Cholinergic receptors nicotinic subunits 173 2000-11-29 2016-02-04 2023-01-20 55584 ENSG00000174343 OTTHUMG00000099375 uc003gva.2 AF227732 NM_017581 CCDS3459 Q9UGM1 MGI:1202403 RGD:621534 605116 objectId:469 HGNC:14079 "ENST00000310169.3|NM_017581.4" HGNC:13800 CHRNA10 cholinergic receptor nicotinic alpha 10 subunit protein-coding gene gene with protein product Approved 11p15.4 11p15.4 acetylcholine receptor, nicotinic, alpha 10 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 10|cholinergic receptor, nicotinic, alpha 10 (neuronal)|cholinergic receptor, nicotinic alpha 10" Cholinergic receptors nicotinic subunits 173 2000-11-28 2016-02-04 2023-01-20 57053 ENSG00000129749 OTTHUMG00000011844 uc001lyf.3 AF199235 NM_001303034 CCDS7745 Q9GZZ6 MGI:3609260 RGD:620142 606372 objectId:470 HGNC:13800 "ENST00000250699.2|NM_020402.4" HGNC:1961 CHRNB1 cholinergic receptor nicotinic beta 1 subunit protein-coding gene gene with protein product Approved 17p13.1 17p13.1 acetylcholine receptor, nicotinic, beta 1 (muscle) CHRNB "cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)|cholinergic receptor, nicotinic, beta 1 (muscle)|cholinergic receptor, nicotinic beta 1" Cholinergic receptors nicotinic subunits 173 1989-05-25 2016-02-04 2023-01-20 1140 ENSG00000170175 OTTHUMG00000108139 uc002ghb.4 X14830 NM_000747 CCDS11106 P11230 MGI:87890 RGD:2349 100710 119419 objectId:471 HGNC:1961 "ENST00000306071.7|NM_000747.3" HGNC:1961 HGNC:1962 CHRNB2 cholinergic receptor nicotinic beta 2 subunit protein-coding gene gene with protein product Approved 1q21.3 01q21.3 acetylcholine receptor, nicotinic, beta 2 (neuronal) "cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)|cholinergic receptor, nicotinic, beta 2 (neuronal)|cholinergic receptor, nicotinic beta 2" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2023-01-20 1141 ENSG00000160716 OTTHUMG00000037262 uc001ffg.4 U62437 NM_000748 CCDS1070 P17787 1505988 MGI:87891 RGD:2350 118507 165966 objectId:472 HGNC:1962 "ENST00000368476.4|NM_000748.3" HGNC:1962 HGNC:1963 CHRNB3 cholinergic receptor nicotinic beta 3 subunit protein-coding gene gene with protein product Approved 8p11.21 08p11.21 acetylcholine receptor, nicotinic, beta 3 (neuronal) "cholinergic receptor, nicotinic, beta polypeptide 3|cholinergic receptor, nicotinic, beta 3 (neuronal)|cholinergic receptor, nicotinic beta 3" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2023-01-20 1142 ENSG00000147432 OTTHUMG00000165262 uc003xpi.2 U62438 NM_000749 CCDS6134 Q05901 1505988 MGI:106212 RGD:621544 118508 objectId:473 HGNC:1963 "ENST00000289957.3|NM_000749.5" -HGNC:1964 CHRNB4 cholinergic receptor nicotinic beta 4 subunit protein-coding gene gene with protein product Approved 15q25.1 15q25.1 acetylcholine receptor, nicotinic, beta 4 (neuronal) "cholinergic receptor, nicotinic, beta polypeptide 4|cholinergic receptor, nicotinic, beta 4 (neuronal)|cholinergic receptor, nicotinic beta 4" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2023-01-20 1143 ENSG00000117971 OTTHUMG00000143860 uc002bed.2 U48861 NM_000750 "CCDS10306|CCDS58392" P30926 2004777 MGI:87892 RGD:2351 118509 objectId:474 HGNC:1964 "ENST00000261751.8|NM_000750.5" HGNC:1964 +HGNC:1964 CHRNB4 cholinergic receptor nicotinic beta 4 subunit protein-coding gene gene with protein product Approved 15q25.1 15q25.1 acetylcholine receptor, nicotinic, beta 4 (neuronal) "cholinergic receptor, nicotinic, beta polypeptide 4|cholinergic receptor, nicotinic, beta 4 (neuronal)|cholinergic receptor, nicotinic beta 4" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2023-01-20 1143 ENSG00000117971 OTTHUMG00000143860 uc002bed.2 U48861 NM_000750 "CCDS58392|CCDS10306" P30926 2004777 MGI:87892 RGD:2351 118509 objectId:474 HGNC:1964 "ENST00000261751.8|NM_000750.5" HGNC:1964 HGNC:1965 CHRND cholinergic receptor nicotinic delta subunit protein-coding gene gene with protein product Approved 2q37.1 02q37.1 acetylcholine receptor, nicotinic, delta (muscle) ACHRD "cholinergic receptor, nicotinic, delta|cholinergic receptor, nicotinic, delta (muscle)|cholinergic receptor, nicotinic delta" Cholinergic receptors nicotinic subunits 173 1986-01-01 2016-02-04 2023-01-20 1144 ENSG00000135902 OTTHUMG00000133261 uc002vsw.5 X55019 NM_000751 "CCDS58754|CCDS2494" Q07001 MGI:87893 RGD:2352 100720 119422 objectId:476 HGNC:1965 "ENST00000258385.8|NM_000751.3" HGNC:1965 HGNC:1966 CHRNE cholinergic receptor nicotinic epsilon subunit protein-coding gene gene with protein product Approved 17p13.2 17p13.2 ACHRE acetylcholine receptor, nicotinic, epsilon (muscle) "cholinergic receptor, nicotinic, epsilon|cholinergic receptor, nicotinic, epsilon (muscle)|cholinergic receptor, nicotinic epsilon" Cholinergic receptors nicotinic subunits 173 1992-04-23 2016-02-04 2023-01-20 1145 ENSG00000108556 OTTHUMG00000090778 uc002fzk.2 X66403 NM_000080 CCDS11058 Q04844 7688301 MGI:87894 RGD:2353 LRG_1254|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1254.xml 100725 119425 objectId:477 HGNC:1966 "ENST00000649488.2|NM_000080.4" HGNC:1966 HGNC:1967 CHRNG cholinergic receptor nicotinic gamma subunit protein-coding gene gene with protein product Approved 2q37.1 02q37.1 acetylcholine receptor, nicotinic, gamma (muscle) ACHRG "cholinergic receptor, nicotinic, gamma|cholinergic receptor, nicotinic, gamma (muscle)|cholinergic receptor, nicotinic gamma" Cholinergic receptors nicotinic subunits 173 2001-06-22 2016-02-04 2023-01-20 1146 ENSG00000196811 OTTHUMG00000153327 uc002vsx.1 X01715 NM_005199 CCDS33400 P07510 MGI:87895 RGD:2354 "LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=CHRNG|LRG_1275|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1275.xml" 100730 119428 objectId:475 HGNC:1967 "ENST00000651502.1|NM_005199.5" HGNC:1967 @@ -4684,16 +4684,16 @@ HGNC:17422 CHST11 carbohydrate sulfotransferase 11 protein-coding gene gene with HGNC:17423 CHST12 carbohydrate sulfotransferase 12 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "C4S-2|C4ST2" chondroitin 4-sulfotransferase 2 carbohydrate (chondroitin 4) sulfotransferase 12 Sulfotransferases, membrane bound 763 2003-08-06 2016-05-09 2023-01-20 55501 ENSG00000136213 OTTHUMG00000023849 uc003smc.4 AF239822 NM_018641 CCDS5333 Q9NRB3 10781601 MGI:1929064 RGD:1308214 610129 2.8.2.5 HGNC:17423 "ENST00000618655.2|NM_018641.5" HGNC:21755 CHST13 carbohydrate sulfotransferase 13 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 C4ST3 chondroitin 4-sulfotransferase 3 carbohydrate (chondroitin 4) sulfotransferase 13 Sulfotransferases, membrane bound 763 2003-08-06 2016-05-09 2023-01-20 166012 ENSG00000180767 OTTHUMG00000162721 uc003eja.4 AY120869 NM_152889 CCDS3039 Q8NET6 12080076 MGI:1919047 RGD:1562825 610124 2.8.2.5 HGNC:21755 "ENST00000319340.7|NM_152889.3" HGNC:24464 CHST14 carbohydrate sulfotransferase 14 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "HD4ST|D4ST-1" D4ST1 "dermatan 4 sulfotransferase 1|carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14|carbohydrate (dermatan 4) sulfotransferase 14" Sulfotransferases, membrane bound 763 2004-02-24 2007-03-27 2016-05-09 2023-01-20 113189 ENSG00000169105 OTTHUMG00000129985 uc001zlw.4 AF401222 NM_130468 CCDS10059 Q8NCH0 11470797 MGI:1919386 RGD:1585023 LRG_600|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_600.xml 608429 226058 2.8.2.35 HGNC:24464 "ENST00000306243.7|NM_130468.4" HGNC:24464 -HGNC:18137 CHST15 carbohydrate sulfotransferase 15 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "GALNAC4S-6ST|BRAG|KIAA0598" "B cell RAG associated protein|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase" carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 Sulfotransferases, membrane bound 763 2009-05-20 2016-05-09 2023-01-20 51363 ENSG00000182022 OTTHUMG00000019208 uc001lhn.4 AB011170 NM_015892 "CCDS7638|CCDS55731" Q7LFX5 "9628581|9754571|11572857" MGI:1924840 RGD:628881 608277 2.8.2.33 HGNC:18137 "ENST00000435907.6|NM_001270764.2" +HGNC:18137 CHST15 carbohydrate sulfotransferase 15 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "GALNAC4S-6ST|BRAG|KIAA0598" "B cell RAG associated protein|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase" carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 Sulfotransferases, membrane bound 763 2009-05-20 2016-05-09 2023-01-20 51363 ENSG00000182022 OTTHUMG00000019208 uc001lhn.4 AB011170 NM_015892 "CCDS55731|CCDS7638" Q7LFX5 "9628581|9754571|11572857" MGI:1924840 RGD:628881 608277 2.8.2.33 HGNC:18137 "ENST00000435907.6|NM_001270764.2" HGNC:17198 CHSY1 chondroitin sulfate synthase 1 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "KIAA0990|CSS1" carbohydrate (chondroitin) synthase 1 "Beta 4-glycosyltransferases|Beta 3-glycosyltransferases" "425|426" 2001-12-19 2008-01-24 2008-01-24 2023-01-20 22856 ENSG00000131873 OTTHUMG00000149873 uc021sxt.1 AB023207 NM_014918 CCDS10390 Q86X52 11514575 MGI:2681120 RGD:1311904 608183 365084 "2.4.1.175|2.4.1.226" HGNC:17198 "ENST00000254190.4|NM_014918.5" HGNC:17198 HGNC:24293 CHSY3 chondroitin sulfate synthase 3 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 "CSS3|CHSY-2" "Beta 4-glycosyltransferases|Beta 3-glycosyltransferases" "425|426" 2008-01-24 2023-01-20 337876 ENSG00000198108 OTTHUMG00000163043 uc003kvd.4 AB086062 NM_175856 CCDS34223 Q70JA7 12907687 MGI:1926173 RGD:1560819 609963 "2.4.1.175|2.4.1.226" HGNC:24293 "ENST00000305031.5|NM_175856.5" HGNC:24353 CHTF8 chromosome transmission fidelity factor 8 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ20400|CTF8" CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) 2009-01-14 2015-06-19 2023-03-15 54921 ENSG00000168802 OTTHUMG00000163909 uc002ewp.3 NM_017804 CCDS42185 P0CG13 12766176 MGI:2443370 RGD:1306894 613202 HGNC:24353 "ENST00000448552.7|NM_001039690.5" HGNC:35443 CHTF8P1 chromosome transmission fidelity factor 8 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 CHTF8P "CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) pseudogene|CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) pseudogene 1|CHTF8 pseudogene 1" 2009-01-14 2010-01-19 2015-06-19 2015-06-19 677883 ENSG00000233543 OTTHUMG00000021397 NG_005539 HGNC:35443 HGNC:18435 CHTF18 chromosome transmission fidelity factor 18 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CHL12|C321D2.4|Ctf18" C16orf41 "chromosome 16 open reading frame 41|CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)" AAA ATPases 413 2003-04-04 2015-06-19 2023-01-20 63922 ENSG00000127586 OTTHUMG00000047838 uc002cke.4 BC018184 NM_022092 CCDS45371 Q8WVB6 12171929 MGI:2384887 RGD:1310473 613201 HGNC:18435 "ENST00000262315.14|NM_022092.3" -HGNC:24511 CHTOP chromatin target of PRMT1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "DKFZP547E1010|SRAG|FOP" "small protein rich in arginine and glycine|Friend of Prmt1" C1orf77 chromosome 1 open reading frame 77 Transcription and export complex 1 subunits 1348 2005-05-20 2011-03-24 2011-03-24 2023-01-20 26097 ENSG00000160679 OTTHUMG00000037052 uc001fcm.3 NM_015607 "CCDS72918|CCDS1048|CCDS81380|CCDS72917" Q9Y3Y2 19254951 MGI:1913761 RGD:1359407 614206 HGNC:24511 "ENST00000368694.8|NM_015607.4" +HGNC:24511 CHTOP chromatin target of PRMT1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "DKFZP547E1010|SRAG|FOP" "small protein rich in arginine and glycine|Friend of Prmt1" C1orf77 chromosome 1 open reading frame 77 Transcription and export complex 1 subunits 1348 2005-05-20 2011-03-24 2011-03-24 2023-01-20 26097 ENSG00000160679 OTTHUMG00000037052 uc001fcm.3 NM_015607 "CCDS81380|CCDS1048|CCDS72918|CCDS72917" Q9Y3Y2 19254951 MGI:1913761 RGD:1359407 614206 HGNC:24511 "ENST00000368694.8|NM_015607.4" HGNC:1974 CHUK component of inhibitor of nuclear factor kappa B kinase complex protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "IKK1|IKK-alpha|IkBKA|NFKBIKA|IKKA" "inhibitor of nuclear factor kappa-B kinase subunit alpha|I-kappa-B kinase" TCF16 conserved helix-loop-helix ubiquitous kinase "I kappa B kinases|IKK complex" "1802|1817" 1995-03-15 2019-02-21 2023-01-20 1147 ENSG00000213341 OTTHUMG00000018899 uc001kqp.4 AF009225 NM_001278 CCDS7488 O15111 "7558004|16902410" MGI:99484 RGD:1306661 600664 469582 objectId:1989 2.7.11.10 HGNC:1974 "ENST00000370397.8|NM_001278.5" HGNC:1974 HGNC:55813 CHUK-DT CHUK divergent transcript non-coding RNA RNA, long non-coding Approved 10q24.31 10q24.31 Divergent transcripts 1990 2021-07-30 2021-09-29 122152368 ENSG00000227492 -HGNC:20099 CHURC1 churchill domain containing 1 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "My015|FLJ33064" C14orf52 2002-12-18 2004-05-07 2004-05-05 2023-01-20 91612 ENSG00000258289 OTTHUMG00000170218 uc059ckt.1 AF060510 NM_145165 "CCDS32101|CCDS55922|CCDS55921" Q8WUH1 MGI:1923684 RGD:1305116 608577 HGNC:20099 "ENST00000549115.7|NM_001386928.1" +HGNC:20099 CHURC1 churchill domain containing 1 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "My015|FLJ33064" C14orf52 2002-12-18 2004-05-07 2004-05-05 2023-01-20 91612 ENSG00000258289 OTTHUMG00000170218 uc059ckt.1 AF060510 NM_145165 "CCDS55922|CCDS55921|CCDS32101" Q8WUH1 MGI:1923684 RGD:1305116 608577 HGNC:20099 "ENST00000549115.7|NM_001386928.1" HGNC:42960 CHURC1-FNTB CHURC1-FNTB readthrough other readthrough Approved 14q23.3 14q23.3 2011-09-28 2023-03-15 100529261 ENSG00000125954 OTTHUMG00000170219 uc059ckz.1 NM_001202558 MGI:1861305 HGNC:42960 HGNC:14280 CIAO1 cytosolic iron-sulfur assembly component 1 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 CIA1 WDR39 "WD repeat domain 39|cytosolic iron-sulfur protein assembly 1 homolog (S. cerevisiae)|cytosolic iron-sulfur protein assembly 1" "WD repeat domain containing|Cytosolic iron-sulfur assembly components" "362|1028" 2005-01-18 2006-11-23 2014-01-13 2023-01-20 9391 ENSG00000144021 OTTHUMG00000130452 uc002svs.4 U63810 NM_004804 CCDS2019 O76071 "9556563|10493829" MGI:1346998 RGD:1307285 604333 HGNC:14280 "ENST00000488633.2|NM_004804.3" HGNC:26235 CIAO2A cytosolic iron-sulfur assembly component 2A protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "FLJ22875|CIA2A" FAM96A family with sequence similarity 96 member A Cytosolic iron-sulfur assembly components 1028 2005-10-20 2018-05-17 2018-05-17 2023-01-20 84191 ENSG00000166797 OTTHUMG00000132961 uc002amt.3 NM_032231 "CCDS10189|CCDS45278" Q9H5X1 "23891004|25716227" MGI:1915500 RGD:1307481 618382 HGNC:26235 "ENST00000300030.8|NM_032231.7" @@ -4701,12 +4701,12 @@ HGNC:43861 CIAO2AP1 CIAO2A pseudogene 1 pseudogene pseudogene Approved 3p24.1 03 HGNC:43862 CIAO2AP2 CIAO2A pseudogene 2 pseudogene pseudogene Approved 1q42.13 01q42.13 FAM96AP2 "family with sequence similarity 96, member A pseudogene 2|family with sequence similarity 96 member A pseudogene 2" 2012-04-04 2021-03-24 2021-03-24 2021-03-24 391174 ENSG00000224566 OTTHUMG00000039501 NG_005999 PGOHUM00000244469 HGNC:43862 HGNC:24261 CIAO2B cytosolic iron-sulfur assembly component 2B protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CGI-128|MIP18|CIA2B" FAM96B family with sequence similarity 96 member B Cytosolic iron-sulfur assembly components 1028 2005-10-20 2018-05-17 2018-05-17 2023-01-20 51647 ENSG00000166595 OTTHUMG00000175408 uc059vme.1 NM_016062 CCDS45506 Q9Y3D0 "11042152|10810093|23891004|36503010" MGI:1915773 RGD:1585802 614778 HGNC:24261 "ENST00000422424.7|NM_016062.4" HGNC:14179 CIAO3 cytosolic iron-sulfur assembly component 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ21988|PRN|HPRN|IOP1|NAR1" iron-only hydrogenase-like protein 1 NARFL "nuclear prelamin A recognition factor-like|nuclear prelamin A recognition factor like" Cytosolic iron-sulfur assembly components 1028 2000-12-21 2018-05-17 2018-05-17 2023-01-20 64428 ENSG00000103245 OTTHUMG00000122093 uc002cjr.4 AY129231 NM_022493 "CCDS76798|CCDS10425" Q9H6Q4 16956324 MGI:1914813 RGD:1305982 611118 HGNC:14179 "ENST00000251588.7|NM_022493.3" HGNC:14179 -HGNC:28050 CIAPIN1 cytokine induced apoptosis inhibitor 1 protein-coding gene gene with protein product Approved 16q21 16q21 CIAE2 Anamorsin "Cytosolic iron-sulfur assembly components|7BS orphan methyltransferases" "1028|2066" 2004-08-16 2023-01-20 57019 ENSG00000005194 OTTHUMG00000133457 uc002ell.2 AF248964 NM_020313 "CCDS10781|CCDS76877|CCDS76876" Q6FI81 "21219862|27519415" MGI:1922083 RGD:1549737 608943 HGNC:28050 "ENST00000394391.9|NM_020313.4" +HGNC:28050 CIAPIN1 cytokine induced apoptosis inhibitor 1 protein-coding gene gene with protein product Approved 16q21 16q21 CIAE2 Anamorsin "Cytosolic iron-sulfur assembly components|7BS orphan methyltransferases" "1028|2066" 2004-08-16 2023-01-20 57019 ENSG00000005194 OTTHUMG00000133457 uc002ell.2 AF248964 NM_020313 "CCDS76876|CCDS10781|CCDS76877" Q6FI81 "21219862|27519415" MGI:1922083 RGD:1549737 608943 HGNC:28050 "ENST00000394391.9|NM_020313.4" HGNC:31087 CIAPIN1P cytokine induced apoptosis inhibitor 1 pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 HsT2384 2005-10-06 2014-11-19 728599 ENSG00000263846 OTTHUMG00000179434 NG_054919 PGOHUM00000235033 HGNC:31087 -HGNC:25200 CIART circadian associated repressor of transcription protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "BC017397|CHRONO" "ChIP-derived repressor of network oscillator|computationally highlighted repressor of the network oscillator" C1orf51 chromosome 1 open reading frame 51 2005-02-02 2014-01-30 2014-01-30 2023-01-20 148523 ENSG00000159208 OTTHUMG00000012548 BC047238 NM_144697 "CCDS949|CCDS72906" Q8N365 24385426 MGI:2684975 RGD:1566380 615782 HGNC:25200 "ENST00000290363.6|NM_144697.4" +HGNC:25200 CIART circadian associated repressor of transcription protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "BC017397|CHRONO" "ChIP-derived repressor of network oscillator|computationally highlighted repressor of the network oscillator" C1orf51 chromosome 1 open reading frame 51 2005-02-02 2014-01-30 2014-01-30 2023-01-20 148523 ENSG00000159208 OTTHUMG00000012548 BC047238 NM_144697 "CCDS72906|CCDS949" Q8N365 24385426 MGI:2684975 RGD:1566380 615782 HGNC:25200 "ENST00000290363.6|NM_144697.4" HGNC:16920 CIB1 calcium and integrin binding 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SIP2-28|CIB|KIP" calmyrin EF-hand domain containing 863 2002-05-08 2015-11-23 2023-01-20 10519 ENSG00000185043 OTTHUMG00000149808 uc002bpb.5 U82226 NM_001277764 "CCDS73781|CCDS10360" Q99828 "9030514|10826701" MGI:1344418 RGD:620133 602293 470098 HGNC:16920 "ENST00000328649.11|NM_006384.4" HGNC:16920 -HGNC:24579 CIB2 calcium and integrin binding family member 2 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 KIP2 kinase interacting protein 2 "DFNB48|USH1J" "deafness, autosomal recessive 48|Usher syndrome 1J (autosomal recessive)" EF-hand domain containing 863 2004-04-20 2023-01-20 10518 ENSG00000136425 OTTHUMG00000143731 uc002bdb.3 BC047381 NM_006383 "CCDS61722|CCDS10296|CCDS61723" O75838 "9931475|23023331" MGI:1929293 RGD:1308718 605564 316333 HGNC:24579 "ENST00000258930.8|NM_006383.4" HGNC:24579 -HGNC:24580 CIB3 calcium and integrin binding family member 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIP3 EF-hand domain containing 863 2004-02-12 2023-01-20 117286 ENSG00000141977 OTTHUMG00000182281 uc002nds.4 AB050868 NM_054113 "CCDS74305|CCDS12340" Q96Q77 MGI:2685953 RGD:1590245 610645 HGNC:24580 "ENST00000269878.8|NM_054113.4" +HGNC:24579 CIB2 calcium and integrin binding family member 2 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 KIP2 kinase interacting protein 2 "DFNB48|USH1J" "deafness, autosomal recessive 48|Usher syndrome 1J (autosomal recessive)" EF-hand domain containing 863 2004-04-20 2023-01-20 10518 ENSG00000136425 OTTHUMG00000143731 uc002bdb.3 BC047381 NM_006383 "CCDS61722|CCDS61723|CCDS10296" O75838 "9931475|23023331" MGI:1929293 RGD:1308718 605564 316333 HGNC:24579 "ENST00000258930.8|NM_006383.4" HGNC:24579 +HGNC:24580 CIB3 calcium and integrin binding family member 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIP3 EF-hand domain containing 863 2004-02-12 2023-01-20 117286 ENSG00000141977 OTTHUMG00000182281 uc002nds.4 AB050868 NM_054113 "CCDS12340|CCDS74305" Q96Q77 MGI:2685953 RGD:1590245 610645 HGNC:24580 "ENST00000269878.8|NM_054113.4" HGNC:33703 CIB4 calcium and integrin binding family member 4 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 EF-hand domain containing 863 2007-11-20 2023-01-20 130106 ENSG00000157884 OTTHUMG00000151993 uc002rhm.4 NM_001029881 CCDS33160 A0PJX0 15574431 MGI:1920509 RGD:1584147 610646 HGNC:33703 "ENST00000288861.5|NM_001029881.3" HGNC:30452 CIBAR1 CBY1 interacting BAR domain containing 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "FLJ38979|BARMR1" "FAM92A1|FAM92A" "family with sequence similarity 92 member A1|family with sequence similarity 92 member A" 2005-09-22 2019-12-20 2019-12-20 2023-01-20 137392 ENSG00000188343 OTTHUMG00000164238 uc064ons.1 NM_145269 "CCDS47892|CCDS64933" A1XBS5 "27528616|30395363|32891772|32532973" MGI:1915349 RGD:1310681 617273 HGNC:30452 "ENST00000518322.6|NM_145269.5" HGNC:30452 HGNC:43644 CIBAR1-DT CIBAR1 divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 LINC00535 long intergenic non-protein coding RNA 535 Divergent transcripts 1990 2011-12-13 2021-04-28 2021-04-28 2021-04-28 642924 ENSG00000246662 OTTHUMG00000164234 uc064onl.1 NR_033858 LINC00535 HGNC:43644 @@ -4744,17 +4744,17 @@ HGNC:48835 CICP27 capicua transcriptional repressor pseudogene 27 pseudogene pse HGNC:48832 CICP28 capicua transcriptional repressor pseudogene 28 pseudogene pseudogene Approved 7p11.2 07p11.2 2013-06-17 2020-04-06 100287136 ENSG00000277253 OTTHUMG00000187673 NG_022558 PGOHUM00000233264 HGNC:48832 HGNC:1976 CIDEA cell death inducing DFFA like effector a protein-coding gene gene with protein product Approved 18p11.21 18p11.21 CIDE-A cell death-inducing DFFA-like effector a 1998-07-15 2018-10-08 2023-03-15 1149 ENSG00000176194 OTTHUMG00000131691 uc002kqt.5 AF041378 NM_001279 CCDS11856 O60543 "9564035|18509062" MGI:1270845 RGD:1305106 604440 HGNC:1976 "ENST00000320477.10|NM_001279.4" HGNC:1977 CIDEB cell death inducing DFFA like effector b protein-coding gene gene with protein product Approved 14q12 14q12 cell death-inducing DFFA-like effector b 2000-01-20 2018-10-08 2023-01-20 27141 ENSG00000136305 OTTHUMG00000171555 uc001woo.4 AF190901 NM_001318807 CCDS32056 Q9UHD4 "10619428|10837461" MGI:1270844 RGD:1310000 604441 HGNC:1977 "ENST00000554411.6|NM_001393339.1" -HGNC:24229 CIDEC cell death inducing DFFA like effector c protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "CIDE-3|FLJ20871|Fsp27" cell death-inducing DFFA-like effector c 2004-07-26 2016-01-26 2023-01-20 63924 ENSG00000187288 OTTHUMG00000128522 uc003btq.4 NM_022094 "CCDS56239|CCDS82731|CCDS74897|CCDS2587" Q96AQ7 12429024 MGI:95585 RGD:1562113 612120 444087 HGNC:24229 "ENST00000336832.7|NM_001321142.2" HGNC:24229 +HGNC:24229 CIDEC cell death inducing DFFA like effector c protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "CIDE-3|FLJ20871|Fsp27" cell death-inducing DFFA-like effector c 2004-07-26 2016-01-26 2023-01-20 63924 ENSG00000187288 OTTHUMG00000128522 uc003btq.4 NM_022094 "CCDS82731|CCDS2587|CCDS74897|CCDS56239" Q96AQ7 12429024 MGI:95585 RGD:1562113 612120 444087 HGNC:24229 "ENST00000336832.7|NM_001321142.2" HGNC:24229 HGNC:24230 CIDECP1 CIDEC pseudogene 1 pseudogene pseudogene Approved 3p25.3 03p25.3 CICE CIDECP "cell death-inducing DFFA-like effector c pseudogene|cell death inducing DFFA like effector c pseudogene 1" 2007-07-26 2018-10-08 2022-10-28 2022-10-28 152302 ENSG00000186162 OTTHUMG00000155323 AF279614 NR_002786 HGNC:24230 HGNC:56519 CIDECP2 CIDEC pseudogene 2 pseudogene pseudogene Approved 3q21.3 03q21.3 2022-10-28 2022-10-28 124906283 ENSG00000250796 PGOHUM00000299581 -HGNC:7067 CIITA class II major histocompatibility complex transactivator protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "C2TA|NLRA" "NLR family, acid domain containing|nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing" MHC2TA "MHC class II transactivator|class II, major histocompatibility complex, transactivator" NLR family 666 1997-06-12 2005-08-12 2016-07-14 2023-01-20 4261 ENSG00000179583 OTTHUMG00000129753 uc002dai.5 U18259 NM_000246 "CCDS73826|CCDS66943|CCDS10544" P33076 8402893 MGI:108445 RGD:619813 "CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase)|http://structure.bmc.lu.se/idbase/CIITAbase/|LRG_49|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_49.xml" CIITA 600005 119442 objectId:1767 HGNC:7067 "ENST00000324288.14|NM_000246.4" HGNC:7067 +HGNC:7067 CIITA class II major histocompatibility complex transactivator protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "C2TA|NLRA" "NLR family, acid domain containing|nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing" MHC2TA "MHC class II transactivator|class II, major histocompatibility complex, transactivator" NLR family 666 1997-06-12 2005-08-12 2016-07-14 2023-01-20 4261 ENSG00000179583 OTTHUMG00000129753 uc002dai.5 U18259 NM_000246 "CCDS66943|CCDS10544|CCDS73826" P33076 8402893 MGI:108445 RGD:619813 "CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase)|http://structure.bmc.lu.se/idbase/CIITAbase/|LRG_49|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_49.xml" CIITA 600005 119442 objectId:1767 HGNC:7067 "ENST00000324288.14|NM_000246.4" HGNC:7067 HGNC:21219 CILK1 ciliogenesis associated kinase 1 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "MRK|LCK2|KIAA0936|MGC46090" "serine/threonine-protein kinase ICK|MAK-related kinase" ICK "intestinal cell (MAK-like) kinase|intestinal cell kinase" 2003-08-21 2019-09-19 2019-09-20 2023-01-20 22858 ENSG00000112144 OTTHUMG00000014870 uc003pbh.3 AB023153 NM_016513 "CCDS4949|CCDS93933" Q9UPZ9 12103360 MGI:1934157 RGD:71050 612325 201496 objectId:2038 HGNC:21219 "ENST00000676107.1|NM_014920.5" HGNC:21219 HGNC:1980 CILP cartilage intermediate layer protein protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "HsT18872|CILP1" cartilage intermediate layer protein, nucleotide pyrophosphohydrolase Immunoglobulin like domain containing 594 1998-08-18 2015-11-24 2023-05-16 8483 ENSG00000138615 OTTHUMG00000133140 uc002aon.3 AY358904 NM_003613 CCDS10203 O75339 "9722584|9722583" MGI:2444507 RGD:1305124 603489 HGNC:1980 "ENST00000261883.6|NM_003613.4" HGNC:24213 CILP2 cartilage intermediate layer protein 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MGC45771 Immunoglobulin like domain containing 594 2004-02-13 2023-01-20 148113 ENSG00000160161 OTTHUMG00000182148 uc002nmv.4 AF542080 NM_153221 CCDS12405 Q8IUL8 21880736 MGI:1915959 RGD:1311157 612419 HGNC:24213 "ENST00000291495.5|NM_153221.2" -HGNC:19905 CIMAP1A ciliary microtubule associated protein 1A protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "SHIPPO1|hSHIPPO|CT135" cancer/testis antigen 135 ODF3 outer dense fiber of sperm tails 3 2002-12-09 2023-04-27 2023-04-27 2023-04-27 113746 ENSG00000177947 OTTHUMG00000119073 uc001lob.4 AB067774 NM_001286136 "CCDS65981|CCDS7688" Q96PU9 11870087 MGI:1916537 RGD:1310028 608356 HGNC:19905 "ENST00000325113.9|NM_053280.5" -HGNC:34388 CIMAP1B ciliary microtubule associated protein 1B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 FAP123 ODF3B outer dense fiber of sperm tails 3B 2008-07-04 2023-04-27 2023-04-27 2023-04-27 440836 ENSG00000177989 OTTHUMG00000150334 uc003bmh.2 NM_001014440 "CCDS93190|CCDS43039|CCDS93188|CCDS93189" A8MYP8 MGI:1917363 RGD:1564322 HGNC:34388 "ENST00000329363.9|NM_001014440.4" +HGNC:19905 CIMAP1A ciliary microtubule associated protein 1A protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "SHIPPO1|hSHIPPO|CT135" cancer/testis antigen 135 ODF3 outer dense fiber of sperm tails 3 2002-12-09 2023-04-27 2023-04-27 2023-04-27 113746 ENSG00000177947 OTTHUMG00000119073 uc001lob.4 AB067774 NM_001286136 "CCDS7688|CCDS65981" Q96PU9 11870087 MGI:1916537 RGD:1310028 608356 HGNC:19905 "ENST00000325113.9|NM_053280.5" +HGNC:34388 CIMAP1B ciliary microtubule associated protein 1B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 FAP123 ODF3B outer dense fiber of sperm tails 3B 2008-07-04 2023-04-27 2023-04-27 2023-04-27 440836 ENSG00000177989 OTTHUMG00000150334 uc003bmh.2 NM_001014440 "CCDS43039|CCDS93189|CCDS93190|CCDS93188" A8MYP8 MGI:1917363 RGD:1564322 HGNC:34388 "ENST00000329363.9|NM_001014440.4" HGNC:28735 CIMAP1C ciliary microtubule associated protein 1C protein-coding gene gene with protein product Approved 15q24.2 15q24.2 MGC48986 ODF3L1 outer dense fiber of sperm tails 3 like 1 2005-01-05 2023-04-27 2023-04-27 2023-04-27 161753 ENSG00000182950 OTTHUMG00000142837 uc002bax.2 BC039862 NM_175881 CCDS10285 Q8IXM7 MGI:2681875 RGD:1304976 HGNC:28735 "ENST00000332145.3|NM_175881.5" -HGNC:26841 CIMAP1D CIMAP1 family member D protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ40059 "C19orf19|ODF3L2" "chromosome 19 open reading frame 19|outer dense fiber of sperm tails 3 like 2" 2004-03-12 2023-04-27 2023-04-27 2023-04-27 284451 ENSG00000181781 OTTHUMG00000180547 uc002lor.3 AK097378 NM_182577 "CCDS92474|CCDS12027" Q3SX64 14702039 MGI:2686003 RGD:1310260 HGNC:26841 "ENST00000315489.5|NM_182577.3" +HGNC:26841 CIMAP1D CIMAP1 family member D protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ40059 "C19orf19|ODF3L2" "chromosome 19 open reading frame 19|outer dense fiber of sperm tails 3 like 2" 2004-03-12 2023-04-27 2023-04-27 2023-04-27 284451 ENSG00000181781 OTTHUMG00000180547 uc002lor.3 AK097378 NM_182577 "CCDS12027|CCDS92474" Q3SX64 14702039 MGI:2686003 RGD:1310260 HGNC:26841 "ENST00000315489.5|NM_182577.3" HGNC:26854 CIMAP2 ciliary microtubule associated protein 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "FLJ40201|LEM" "C1orf177|LEXM" "chromosome 1 open reading frame 177|lymphocyte expansion molecule" 2005-07-25 2023-05-03 2023-05-03 2023-05-03 163747 ENSG00000162398 OTTHUMG00000009986 AK097520 NM_152607 "CCDS44153|CCDS599" Q3ZCV2 MGI:2681853 RGD:1559493 616446 HGNC:26854 "ENST00000371273.4|NM_001110533.2" HGNC:27009 CIMAP3 ciliary microtubule associated protein 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ23853|pitchfork" "C1orf88|PIFO" "chromosome 1 open reading frame 88|primary cilia formation" 2005-05-27 2023-05-03 2023-05-03 2023-05-03 128344 ENSG00000173947 OTTHUMG00000011168 uc001eaw.3 BC050319 NM_181643 "CCDS72836|CCDS833" Q8TCI5 20643351 MGI:1923670 RGD:1586282 614234 HGNC:27009 "ENST00000369738.9|NM_181643.6" HGNC:16216 CIMIP1 ciliary microtubule inner protein 1 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "bA196N14.1|LLC1" Low in Lung Cancer 1 C20orf85 chromosome 20 open reading frame 85 2001-07-17 2023-04-27 2023-04-27 2023-04-27 128602 ENSG00000124237 OTTHUMG00000032836 uc002xyv.4 AL354776 NM_178456 CCDS13465 Q9H1P6 30149579 MGI:1919471 RGD:1589960 619277 HGNC:16216 "ENST00000371168.4|NM_178456.3" @@ -4770,31 +4770,31 @@ HGNC:24217 CIR1 corepressor interacting with RBPJ, CIR1 protein-coding gene gene HGNC:44011 CIR1P1 CIR1 pseudogene 1 pseudogene pseudogene Approved 5q33.2 05q33.2 corepressor interacting with RBPJ, 1 pseudogene 1 2012-05-28 2020-01-10 2020-01-10 100131740 ENSG00000253146 OTTHUMG00000164140 NG_021866 PGOHUM00000235431 HGNC:44011 HGNC:44012 CIR1P2 CIR1 pseudogene 2 pseudogene pseudogene Approved 4q26 04q26 corepressor interacting with RBPJ, 1 pseudogene 2 2012-05-28 2020-01-10 2020-01-10 100131828 ENSG00000250215 OTTHUMG00000161092 NG_022027 PGOHUM00000245663 HGNC:44012 HGNC:44013 CIR1P3 CIR1 pseudogene 3 pseudogene pseudogene Approved 11p13 11p13 corepressor interacting with RBPJ, 1 pseudogene 3 2012-05-28 2020-01-10 2020-01-10 106480783 ENSG00000216708 OTTHUMG00000044383 NG_044033 PGOHUM00000242635 HGNC:44013 -HGNC:1982 CIRBP cold inducible RNA binding protein protein-coding gene gene with protein product Approved 19p13.3 19p13.3 CIRP "Cold-inducible RNA-binding protein|glycine-rich RNA binding protein" cold inducible RNA-binding protein RNA binding motif containing 725 1997-12-05 2001-11-28 2023-01-20 1153 ENSG00000099622 OTTHUMG00000180145 uc060qxg.1 D78134 NM_001280 "CCDS74244|CCDS74245|CCDS12059" Q14011 "9434172|9151692" MGI:893588 RGD:620756 602649 HGNC:1982 "ENST00000587896.6|NM_001300829.2" +HGNC:1982 CIRBP cold inducible RNA binding protein protein-coding gene gene with protein product Approved 19p13.3 19p13.3 CIRP "Cold-inducible RNA-binding protein|glycine-rich RNA binding protein" cold inducible RNA-binding protein RNA binding motif containing 725 1997-12-05 2001-11-28 2023-01-20 1153 ENSG00000099622 OTTHUMG00000180145 uc060qxg.1 D78134 NM_001280 "CCDS74245|CCDS12059|CCDS74244" Q14011 "9434172|9151692" MGI:893588 RGD:620756 602649 HGNC:1982 "ENST00000587896.6|NM_001300829.2" HGNC:28588 CIRBP-AS1 CIRBP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 MGC39338 C19orf23 "chromosome 19 open reading frame 23|CIRBP antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-03-16 2011-11-23 2012-08-15 2020-01-06 148046 ENSG00000267493 OTTHUMG00000180146 uc010xgk.5 BC026041 NR_027271 Q8TBR5 12477932 CIRBP-AS1 HGNC:28588 HGNC:53647 CIROP ciliated left-right organizer metallopeptidase protein-coding gene gene with protein product Approved 14q11.2 14q11.2 LMLN2 leishmanolysin like peptidase 2 2017-08-11 2022-01-18 2022-01-18 2023-01-20 100128908 ENSG00000283654 OTTHUMG00000191651 NM_001354640 CCDS86373 A0A1B0GTW7 34903892 MGI:5588935 RGD:1560492 619703 HGNC:53647 "ENST00000637218.2|NM_001354640.2" HGNC:30880 CISD1 CDGSH iron sulfur domain 1 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "MDS029|mitoNEET" "C10orf70|ZCD1" "chromosome 10 open reading frame 70|zinc finger, CDGSH-type domain 1" CDGSH iron sulfur domain containing 481 2004-02-05 2007-08-10 2007-08-10 2023-01-20 55847 ENSG00000122873 OTTHUMG00000018266 uc001jkc.6 AY960578 NM_018464 CCDS7251 Q9NZ45 "17376863|17584744" MGI:1261855 RGD:1309529 611932 HGNC:30880 "ENST00000333926.6|NM_018464.5" HGNC:29611 CISD1P1 CDGSH iron sulfur domain 1 pseudogene 1 pseudogene pseudogene Approved 2p24.1 02p24.1 "ZCD1B|CISD1B" "zinc finger, CDGSH-type domain 1B|CDGSH iron sulfur domain 1B|CDGSH iron sulfur domain 1B pseudogene" 2006-06-30 2011-04-28 2011-04-28 2014-11-19 130500 ENSG00000213403 OTTHUMG00000151771 NG_005172 PGOHUM00000240590 HGNC:29611 HGNC:24212 CISD2 CDGSH iron sulfur domain 2 protein-coding gene gene with protein product Approved 4q24 04q24 "Miner1|ERIS|NAF-1" "mitoNEET related 1|endoplasmic reticulum intermembrane small protein|nutrient-deprivation autophagy factor-1" "ZCD2|WFS2" "zinc finger, CDGSH-type domain 2|Wolfram syndrome 2" CDGSH iron sulfur domain containing 481 2006-06-30 2007-08-10 2007-08-10 2023-01-20 493856 ENSG00000145354 OTTHUMG00000161014 uc003hwt.5 BX537971 NM_001008388 CCDS34040 Q8N5K1 "17376863|17584744|17846994" MGI:1914256 RGD:1566242 LRG_1266|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1266.xml 611507 166722 HGNC:24212 "ENST00000273986.10|NM_001008388.5" HGNC:24212 HGNC:27578 CISD3 CDGSH iron sulfur domain 3 protein-coding gene gene with protein product Approved 17q12 17q12 "Miner2|MiNT" mitoNEET related 2 CDGSH iron sulfur domain containing 481 2007-08-10 2023-01-20 284106 ENSG00000277972 OTTHUMG00000188500 uc032gls.2 AK097047 NM_001136498 CCDS45662 P0C7P0 "17376863|17584744" MGI:101788 RGD:1559720 611933 HGNC:27578 "ENST00000613478.2|NM_001136498.2" -HGNC:1984 CISH cytokine inducible SH2 containing protein protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "CIS|G18|CIS-1|SOCS" cytokine inducible SH2-containing protein "SH2 domain containing|Suppressors of cytokine signaling" "741|764" 1996-09-23 2016-04-04 2023-01-20 1154 ENSG00000114737 OTTHUMG00000156853 uc003dax.4 Z77852 NM_145071 "CCDS2831|CCDS46834" Q9NSE2 "9465889|7796808" MGI:103159 RGD:69261 602441 HGNC:1984 "ENST00000348721.4|NM_145071.4" +HGNC:1984 CISH cytokine inducible SH2 containing protein protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "CIS|G18|CIS-1|SOCS" cytokine inducible SH2-containing protein "SH2 domain containing|Suppressors of cytokine signaling" "741|764" 1996-09-23 2016-04-04 2023-01-20 1154 ENSG00000114737 OTTHUMG00000156853 uc003dax.4 Z77852 NM_145071 "CCDS46834|CCDS2831" Q9NSE2 "9465889|7796808" MGI:103159 RGD:69261 602441 HGNC:1984 "ENST00000348721.4|NM_145071.4" HGNC:55823 CIST1 colon, intestine and stomach enriched 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 2023-03-28 2023-03-28 729966 ENSG00000284797 NM_001396036 CCDS92568 "16554549|27510368" MGI:3781514 RGD:41373121 HGNC:49426 CISTR chondrogenesis-associated transcript non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 "CISTR-ACT|CISTRACT|re52431" cis- and trans-chromosomal chondrogenic regulator transcript Long non-coding RNAs with non-systematic symbols 1992 2014-01-14 2014-01-14 2018-08-16 102216268 ENSG00000260492 OTTHUMG00000173078 "DA125942|HY042141" NR_104332 23093776 MGI:5621321 RGD:7365122 CISTR HGNC:49426 HGNC:1985 CIT citron rho-interacting serine/threonine kinase protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "KIAA0949|STK21|CRIK|CITK" serine/threonine kinase 21 citron (rho-interacting, serine/threonine kinase 21) "AGC family kinases|MicroRNA protein coding host genes" "1625|1691" 1999-08-05 2014-04-23 2023-01-20 11113 ENSG00000122966 OTTHUMG00000134325 uc001txi.3 AB023166 NM_007174 "CCDS55891|CCDS9192" O14578 9792683 MGI:105313 RGD:70878 605629 464175 objectId:1509 2.7.11.1 HGNC:1985 "ENST00000392521.7|NM_001206999.2" HGNC:1985 -HGNC:1986 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 MSG1 Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 1 1998-03-27 2016-02-24 2023-01-20 4435 ENSG00000125931 OTTHUMG00000021812 uc004eat.4 U65092 NM_004143 "CCDS48136|CCDS14419" Q99966 "8901575|9721210" MGI:108023 RGD:620781 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CITED1 300149 HGNC:1986 "ENST00000651998.1|NM_001144887.2" -HGNC:1987 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 MRG1 Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 2 1999-06-11 2016-02-24 2023-01-20 10370 ENSG00000164442 OTTHUMG00000015691 uc003qip.3 U65093 NM_001168388 "CCDS75530|CCDS5195" Q99967 "8901575|10552932" MGI:1306784 RGD:620112 602937 240691 HGNC:1987 "ENST00000367651.4|NM_006079.5" HGNC:1987 +HGNC:1986 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 MSG1 Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 1 1998-03-27 2016-02-24 2023-01-20 4435 ENSG00000125931 OTTHUMG00000021812 uc004eat.4 U65092 NM_004143 "CCDS14419|CCDS48136" Q99966 "8901575|9721210" MGI:108023 RGD:620781 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CITED1 300149 HGNC:1986 "ENST00000651998.1|NM_001144887.2" +HGNC:1987 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 MRG1 Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 2 1999-06-11 2016-02-24 2023-01-20 10370 ENSG00000164442 OTTHUMG00000015691 uc003qip.3 U65093 NM_001168388 "CCDS5195|CCDS75530" Q99967 "8901575|10552932" MGI:1306784 RGD:620112 602937 240691 HGNC:1987 "ENST00000367651.4|NM_006079.5" HGNC:1987 HGNC:18696 CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 transcriptional co-activator 4 Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 4 2002-05-29 2016-02-24 2023-01-20 163732 ENSG00000179862 OTTHUMG00000007728 uc001cgj.4 AF362074 NM_133467 CCDS458 Q96RK1 11744733 MGI:1861694 RGD:620113 606815 HGNC:18696 "ENST00000372638.4|NM_133467.3" -HGNC:16744 CIZ1 CDKN1A interacting zinc finger protein 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "LSFR1|ZNF356" Zinc fingers matrin-type 84 2003-10-22 2023-01-20 25792 ENSG00000148337 OTTHUMG00000020735 uc004btt.4 AB030835 NM_012127 "CCDS48034|CCDS75910|CCDS6894|CCDS48033|CCDS59147" Q9ULV3 10529385 MGI:1920234 RGD:1305336 611420 470102 HGNC:16744 "ENST00000372938.10|NM_001131016.2" HGNC:16744 -HGNC:1990 CKAP2 cytoskeleton associated protein 2 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "LB1|FLJ10749|se20-10|TMAP" tumor-associated microtubule-associated protein 1999-12-01 2023-01-20 26586 ENSG00000136108 OTTHUMG00000016967 uc001vgu.4 AF177227 NM_001098525 "CCDS66557|CCDS9435|CCDS41893|CCDS73578" Q8WWK9 "9771967|27055594" MGI:1931797 RGD:1311631 611569 HGNC:1990 "ENST00000258607.10|NM_018204.5" -HGNC:56053 CKAP2-DT CKAP2 divergent transcript non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 Divergent transcripts 1990 2021-12-09 2021-12-09 123706541 ENSG00000278238 +HGNC:16744 CIZ1 CDKN1A interacting zinc finger protein 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "LSFR1|ZNF356" Zinc fingers matrin-type 84 2003-10-22 2023-01-20 25792 ENSG00000148337 OTTHUMG00000020735 uc004btt.4 AB030835 NM_012127 "CCDS6894|CCDS48033|CCDS59147|CCDS75910|CCDS48034" Q9ULV3 10529385 MGI:1920234 RGD:1305336 611420 470102 HGNC:16744 "ENST00000372938.10|NM_001131016.2" HGNC:16744 +HGNC:1990 CKAP2 cytoskeleton associated protein 2 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "LB1|FLJ10749|se20-10|TMAP" tumor-associated microtubule-associated protein 1999-12-01 2023-01-20 26586 ENSG00000136108 OTTHUMG00000016967 uc001vgu.4 AF177227 NM_001098525 "CCDS66557|CCDS41893|CCDS9435|CCDS73578" Q8WWK9 "9771967|27055594" MGI:1931797 RGD:1311631 611569 HGNC:1990 "ENST00000258607.10|NM_018204.5" +HGNC:56053 CKAP2-DT CKAP2 divergent transcript non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 Divergent transcripts 1990 2021-12-09 2021-12-09 123706541 ENSG00000278238 NR_185890 HGNC:26877 CKAP2L cytoskeleton associated protein 2 like protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FLJ40629|radmis" radial fiber and mitotic spindle 2006-03-24 2015-11-26 2023-01-20 150468 ENSG00000169607 OTTHUMG00000131313 uc002tie.3 AL832036 NM_152515 CCDS2100 Q8IYA6 "24260314|25439729" MGI:1917716 RGD:1590645 616174 418214 HGNC:26877 "ENST00000302450.11|NM_152515.5" HGNC:26877 HGNC:54420 CKAP2LP1 CKAP2L pseudogene 1 pseudogene pseudogene Approved 20p13 20p13 2019-07-16 2019-07-16 100533711 ENSG00000271461 NG_028866 HGNC:54420 HGNC:49923 CKAP2P1 cytoskeleton associated protein 2 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 2014-03-21 2014-03-21 100420763 ENSG00000258722 OTTHUMG00000171363 NG_027249 PGOHUM00000247733 HGNC:49923 HGNC:16991 CKAP4 cytoskeleton associated protein 4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "P63|CLIMP-63|ERGIC-63" cytoskeleton-associated protein 4 2001-11-14 2016-07-04 2023-01-20 10970 ENSG00000136026 OTTHUMG00000170085 uc001tlk.4 X69910 NM_006825 CCDS9103 Q07065 8314870 MGI:2444926 RGD:1311989 618595 HGNC:16991 "ENST00000378026.5|NM_006825.4" -HGNC:28959 CKAP5 cytoskeleton associated protein 5 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "ch-TOG|KIAA0097|TOG|TOGp" "TOG domain containing|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1495|1691|1835" 2005-06-01 2023-01-20 9793 ENSG00000175216 OTTHUMG00000166599 uc001ndi.3 NM_014756 "CCDS7924|CCDS31477" Q14008 "7788527|8536682" MGI:1923036 RGD:1563596 611142 HGNC:28959 "ENST00000529230.6|NM_001008938.4" +HGNC:28959 CKAP5 cytoskeleton associated protein 5 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "ch-TOG|KIAA0097|TOG|TOGp" "TOG domain containing|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1495|1691|1835" 2005-06-01 2023-01-20 9793 ENSG00000175216 OTTHUMG00000166599 uc001ndi.3 NM_014756 "CCDS31477|CCDS7924" Q14008 "7788527|8536682" MGI:1923036 RGD:1563596 611142 HGNC:28959 "ENST00000529230.6|NM_001008938.4" HGNC:1991 CKB creatine kinase B protein-coding gene gene with protein product Approved 14q32.33 14q32.33 creatine kinase brain-type CKBB creatine kinase, brain 2001-06-22 2016-03-18 2023-01-20 1152 ENSG00000166165 OTTHUMG00000171786 uc001ynf.3 NM_001362531 "CCDS9981|CCDS91943" P12277 25810257 MGI:88407 RGD:2357 123280 2.7.3.2 HGNC:1991 "ENST00000348956.7|NM_001823.5" HGNC:1993 CKBP1 creatine kinase B pseudogene 1 pseudogene pseudogene Approved 16q11.2 16q11.2 1992-11-26 2012-10-16 1157 ENSG00000260889 OTTHUMG00000175603 M60806 NG_001535 "1676982|2883200" PGOHUM00000261881 HGNC:1993 -HGNC:13253 CKLF chemokine like factor protein-coding gene gene with protein product Approved 16q21 16q21 "UCK-1|CKLF3|CKLF4|HSPC224|C32" CKLF1 chemokine-like factor 1 2001-08-23 2003-03-07 2016-07-14 2023-01-20 51192 ENSG00000217555 OTTHUMG00000137504 uc002eow.4 AF096895 NM_016326 "CCDS10809|CCDS10808|CCDS10807|CCDS10806|CCDS45502" Q9UBR5 "11042152|11415443" MGI:1922708 RGD:620708 616074 HGNC:13253 "ENST00000264001.9|NM_016951.4" +HGNC:13253 CKLF chemokine like factor protein-coding gene gene with protein product Approved 16q21 16q21 "UCK-1|CKLF3|CKLF4|HSPC224|C32" CKLF1 chemokine-like factor 1 2001-08-23 2003-03-07 2016-07-14 2023-01-20 51192 ENSG00000217555 OTTHUMG00000137504 uc002eow.4 AF096895 NM_016326 "CCDS10806|CCDS10808|CCDS10809|CCDS45502|CCDS10807" Q9UBR5 "11042152|11415443" MGI:1922708 RGD:620708 616074 HGNC:13253 "ENST00000264001.9|NM_016951.4" HGNC:39977 CKLF-CMTM1 CKLF-CMTM1 readthrough other readthrough Approved 16q21 16q21 2011-04-19 2023-03-15 100529251 ENSG00000254788 OTTHUMG00000167106 uc021tju.2 NM_001202509 HGNC:39977 HGNC:1994 CKM creatine kinase, M-type protein-coding gene gene with protein product Approved 19q13.32 19q13.32 CKMM creatine kinase, muscle 2001-06-22 2016-02-10 2023-01-20 1158 ENSG00000104879 OTTHUMG00000181782 uc002pbd.5 M14780 NM_001824 CCDS12659 P06732 MGI:88413 RGD:2358 123310 2.7.3.2 HGNC:1994 "ENST00000221476.4|NM_001824.5" HGNC:31736 CKMT1A creatine kinase, mitochondrial 1A protein-coding gene gene with protein product Approved 15q15.3 15q15.3 CKMT1 creatine kinase, mitochondrial 1 (ubiquitous) 2005-04-15 2023-01-20 548596 ENSG00000223572 OTTHUMG00000059898 uc001zsn.3 "BC001926|BC006467" NM_001015001 CCDS32217 P12532 MGI:99441 613415 2.7.3.2 HGNC:31736 "ENST00000413453.7|NM_001321926.2" @@ -4810,10 +4810,10 @@ HGNC:17640 CKS1BP5 CDC28 protein kinase regulatory subunit 1B pseudogene 5 pseud HGNC:24608 CKS1BP6 CDC28 protein kinase regulatory subunit 1B pseudogene 6 pseudogene pseudogene Approved Xp21.2 Xp21.2 2009-11-25 2014-11-19 652904 ENSG00000178556 OTTHUMG00000021326 NG_012762 HGNC:24608 HGNC:1999 CKS1BP7 CDC28 protein kinase regulatory subunit 1B pseudogene 7 pseudogene pseudogene Approved 8q21.13 08q21.13 "CKS1|CKS1A" "CDC28 protein kinase 1|CDC28 protein kinase regulatory subunit 1A|CDC28 protein kinase regulatory subunit 1A pseudogene" 1996-03-12 2011-04-28 2011-04-28 2011-04-28 137529 ENSG00000254331 OTTHUMG00000164749 NG_001577 8697818 PGOHUM00000249403 HGNC:1999 HGNC:2000 CKS2 CDC28 protein kinase regulatory subunit 2 protein-coding gene gene with protein product Approved 9q22.2 09q22.2 CDC28 protein kinase 2 MicroRNA protein coding host genes 1691 1996-03-12 2002-10-07 2023-01-20 1164 ENSG00000123975 OTTHUMG00000020180 uc004aqh.3 X54942 NM_001827 CCDS6682 P33552 "2227411|8697818" MGI:1913447 RGD:1562047 116901 HGNC:2000 "ENST00000314355.7|NM_001827.3" -HGNC:17088 CLASP1 cytoplasmic linker associated protein 1 protein-coding gene gene with protein product Approved 2q14.2-q14.3 02q14.2-q14.3 "KIAA0622|MAST1" "multiple asters 1|CLIP-associating protein 1" TOG domain containing 1495 2002-06-12 2023-01-20 23332 ENSG00000074054 OTTHUMG00000153331 uc061nli.1 AB014522 NM_015282 "CCDS92853|CCDS92852|CCDS92854|CCDS92851" Q7Z460 "9734811|10899121|16914514" MGI:1923957 RGD:1310970 605852 470636 HGNC:17088 "ENST00000696935.1|NM_001395891.1" HGNC:17088 +HGNC:17088 CLASP1 cytoplasmic linker associated protein 1 protein-coding gene gene with protein product Approved 2q14.2-q14.3 02q14.2-q14.3 "KIAA0622|MAST1" "multiple asters 1|CLIP-associating protein 1" TOG domain containing 1495 2002-06-12 2023-01-20 23332 ENSG00000074054 OTTHUMG00000153331 uc061nli.1 AB014522 NM_015282 "CCDS92853|CCDS92851|CCDS92854|CCDS92852" Q7Z460 "9734811|10899121|16914514" MGI:1923957 RGD:1310970 605852 470636 HGNC:17088 "ENST00000696935.1|NM_001395891.1" HGNC:17088 HGNC:55328 CLASP1-AS1 CLASP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.2 02q14.2 Antisense RNAs 1987 2020-10-21 2020-10-21 107985942 ENSG00000265451 XR_001739683 -HGNC:17078 CLASP2 cytoplasmic linker associated protein 2 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 KIAA0627 TOG domain containing 1495 2002-06-12 2023-01-20 23122 ENSG00000163539 OTTHUMG00000156489 uc062hxz.1 AB014527 NM_001207044 "CCDS93235|CCDS93232|CCDS93233|CCDS93234|CCDS93237" O75122 "9734811|10899121" MGI:1923749 RGD:619789 605853 HGNC:17078 "ENST00000682230.1|NM_001365631.1" -HGNC:17731 CLASRP CLK4 associating serine/arginine rich protein protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "SWAP2|CLASP" Clk4 associating SR-related protein SFRS16 "splicing factor, arginine/serine-rich 16|CLK4-associating serine/arginine rich protein" 2003-08-06 2010-09-21 2016-04-29 2023-01-20 11129 ENSG00000104859 OTTHUMG00000150189 uc002pak.3 AF042800 NM_007056 "CCDS12652|CCDS62710" Q8N2M8 12169693 MGI:1855695 RGD:1563538 618532 HGNC:17731 "ENST00000221455.8|NM_007056.3" +HGNC:17078 CLASP2 cytoplasmic linker associated protein 2 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 KIAA0627 TOG domain containing 1495 2002-06-12 2023-01-20 23122 ENSG00000163539 OTTHUMG00000156489 uc062hxz.1 AB014527 NM_001207044 "CCDS93232|CCDS93234|CCDS93235|CCDS93233|CCDS93237" O75122 "9734811|10899121" MGI:1923749 RGD:619789 605853 HGNC:17078 "ENST00000682230.1|NM_001365631.1" +HGNC:17731 CLASRP CLK4 associating serine/arginine rich protein protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "SWAP2|CLASP" Clk4 associating SR-related protein SFRS16 "splicing factor, arginine/serine-rich 16|CLK4-associating serine/arginine rich protein" 2003-08-06 2010-09-21 2016-04-29 2023-01-20 11129 ENSG00000104859 OTTHUMG00000150189 uc002pak.3 AF042800 NM_007056 "CCDS62710|CCDS12652" Q8N2M8 12169693 MGI:1855695 RGD:1563538 618532 HGNC:17731 "ENST00000221455.8|NM_007056.3" HGNC:20126 CLBA1 clathrin binding box of aftiphilin containing 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 C14orf79 chromosome 14 open reading frame 79 2003-01-13 2017-06-30 2017-07-20 2023-01-20 122616 ENSG00000140104 OTTHUMG00000170474 uc001ypy.2 NM_174891 CCDS42000 Q96F83 MGI:2443738 RGD:1307315 HGNC:20126 "ENST00000547315.6|NM_174891.4" HGNC:2014 CLC Charcot-Leyden crystal galectin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "LGALS10|MGC149659|Gal-10" "eosinophil lysophospholipase|lysolecithin acylhydrolase|galectin 10|lectin, galactoside-binding, soluble, 10" Charcot-Leyden crystal protein Galectins 629 1991-07-31 2013-06-12 2023-01-20 1178 ENSG00000105205 OTTHUMG00000183144 uc002omh.4 L01664 NM_001828 CCDS33025 Q05315 "1577491|11834744" 153310 HGNC:2014 "ENST00000221804.5|NM_001828.6" HGNC:2015 CLCA1 chloride channel accessory 1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "CaCC|CLCRG1" "chloride channel, calcium activated, family member 1|chloride channel regulator 1" Chloride channel accessory 867 1998-06-25 2009-01-29 2023-01-20 1179 ENSG00000016490 OTTHUMG00000010254 uc057ibt.1 NM_001285 CCDS709 A8K7I4 9828122 MGI:1346342 RGD:1306258 603906 HGNC:2015 "ENST00000394711.2|NM_001285.4" @@ -4821,31 +4821,31 @@ HGNC:2016 CLCA2 chloride channel accessory 2 protein-coding gene gene with prote HGNC:2017 CLCA3P chloride channel accessory 3, pseudogene pseudogene pseudogene Approved 1p22.3 01p22.3 CLCA3 "chloride channel, calcium activated, family member 3|chloride channel regulator 3" Chloride channel accessory 867 1998-10-02 2009-01-29 2011-04-15 2023-03-15 9629 ENSG00000153923 OTTHUMG00000010258 AF043976 NR_02460 Q9Y6N3 10095065 "MGI:1316732|MGI:1931471|MGI:2181989" 604337 PGOHUM00000296385 HGNC:2017 HGNC:2018 CLCA4 chloride channel accessory 4 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 CaCC2 "chloride channel, calcium activated, family member 4|chloride channel regulator 4" Chloride channel accessory 867 1999-11-26 2009-01-29 2023-01-20 22802 ENSG00000016602 OTTHUMG00000010260 uc009wcs.4 AF127035 NM_012128 CCDS41355 Q14CN2 10437792 "MGI:2139744|MGI:2139790" RGD:1303234 616857 353921 HGNC:2018 "ENST00000370563.3|NM_012128.4" HGNC:54055 CLCA4-AS1 CLCA4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.3 01p22.3 Antisense RNAs 1987 2018-09-26 2018-09-26 105378828 ENSG00000236915 NR_135837 HGNC:54055 -HGNC:29675 CLCC1 chloride channel CLIC like 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 MCLC Mid1-related chloride channel (yeast) chloride channel CLIC-like 1 Tetraspan junctional complex superfamily 1471 2005-08-04 2016-01-19 2023-05-24 23155 ENSG00000121940 OTTHUMG00000011732 uc021ora.2 AB018304 NM_015127 "CCDS793|CCDS60215|CCDS41362|CCDS60214|CCDS91013" Q96S66 "11279057|30157172|37142673" MGI:2385186 RGD:708359 617539 HGNC:29675 "ENST00000369969.7|NM_001377458.1" -HGNC:17412 CLCF1 cardiotrophin like cytokine factor 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "NNT1|BSF3|CLC|NR6|CISS2|BSF-3|NNT-1" "B-cell stimulating factor 3|cold-induced sweating syndrome 2|novel neurotrophin-1" CRLF1 associated cytokine-like factor 1 Interleukin 6 type cytokine family 1264 2005-02-22 2017-02-21 2023-01-20 23529 ENSG00000175505 OTTHUMG00000167669 uc001okq.4 BC012939 NM_013246 "CCDS31617|CCDS53666" Q9UBD9 "10500198|10448081|16782820" MGI:1930088 RGD:1303171 607672 159242 ligandId:4895 HGNC:17412 "ENST00000312438.8|NM_013246.3" HGNC:17412 +HGNC:29675 CLCC1 chloride channel CLIC like 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 MCLC Mid1-related chloride channel (yeast) chloride channel CLIC-like 1 Tetraspan junctional complex superfamily 1471 2005-08-04 2016-01-19 2023-06-09 23155 ENSG00000121940 OTTHUMG00000011732 uc021ora.2 AB018304 NM_015127 "CCDS41362|CCDS60215|CCDS60214|CCDS793|CCDS91013" Q96S66 "11279057|30157172|37142673" MGI:2385186 RGD:708359 617539 HGNC:29675 "ENST00000369969.7|NM_001377458.1" +HGNC:17412 CLCF1 cardiotrophin like cytokine factor 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "NNT1|BSF3|CLC|NR6|CISS2|BSF-3|NNT-1" "B-cell stimulating factor 3|cold-induced sweating syndrome 2|novel neurotrophin-1" CRLF1 associated cytokine-like factor 1 Interleukin 6 type cytokine family 1264 2005-02-22 2017-02-21 2023-01-20 23529 ENSG00000175505 OTTHUMG00000167669 uc001okq.4 BC012939 NM_013246 "CCDS53666|CCDS31617" Q9UBD9 "10500198|10448081|16782820" MGI:1930088 RGD:1303171 607672 159242 ligandId:4895 HGNC:17412 "ENST00000312438.8|NM_013246.3" HGNC:17412 HGNC:2019 CLCN1 chloride voltage-gated channel 1 protein-coding gene gene with protein product Approved 7q34 07q34 "CLC1|ClC-1" Thomsen disease, autosomal dominant "chloride channel 1, skeletal muscle|chloride channel, voltage-sensitive 1" Chloride voltage-gated channels 302 1992-10-13 2016-02-04 2023-01-20 1180 ENSG00000188037 OTTHUMG00000152695 uc003wcr.2 Z25884 NM_000083 CCDS5881 P35523 1379744 MGI:88417 RGD:2360 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLCN1 118425 119447 objectId:698 HGNC:2019 "ENST00000343257.7|NM_000083.3" HGNC:2019 -HGNC:2020 CLCN2 chloride voltage-gated channel 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "CLC2|EJM6|ClC-2" "chloride channel 2|chloride channel, voltage-sensitive 2" Chloride voltage-gated channels 302 1994-01-28 2016-02-04 2023-01-20 1181 ENSG00000114859 OTTHUMG00000156747 uc003foi.4 S77770 NM_001171087 "CCDS54691|CCDS54692|CCDS54690|CCDS3263" P51788 7795595 MGI:105061 RGD:2361 600570 226047 objectId:699 HGNC:2020 "ENST00000265593.9|NM_004366.6" HGNC:2020 -HGNC:2021 CLCN3 chloride voltage-gated channel 3 protein-coding gene gene with protein product Approved 4q33 04q33 "CLC3|ClC-3" "chloride channel 3|chloride channel, voltage-sensitive 3" Chloride voltage-gated channels 302 1994-01-28 2016-02-04 2023-01-20 1182 ENSG00000109572 OTTHUMG00000160973 uc003ish.4 X78520 NM_001243372 "CCDS58932|CCDS34100|CCDS34101|CCDS75208" P51790 MGI:103555 RGD:621219 600580 objectId:702 HGNC:2021 "ENST00000513761.6|NM_001829.4" HGNC:2021 +HGNC:2020 CLCN2 chloride voltage-gated channel 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "CLC2|EJM6|ClC-2" "chloride channel 2|chloride channel, voltage-sensitive 2" Chloride voltage-gated channels 302 1994-01-28 2016-02-04 2023-01-20 1181 ENSG00000114859 OTTHUMG00000156747 uc003foi.4 S77770 NM_001171087 "CCDS3263|CCDS54690|CCDS54691|CCDS54692" P51788 7795595 MGI:105061 RGD:2361 600570 226047 objectId:699 HGNC:2020 "ENST00000265593.9|NM_004366.6" HGNC:2020 +HGNC:2021 CLCN3 chloride voltage-gated channel 3 protein-coding gene gene with protein product Approved 4q33 04q33 "CLC3|ClC-3" "chloride channel 3|chloride channel, voltage-sensitive 3" Chloride voltage-gated channels 302 1994-01-28 2016-02-04 2023-01-20 1182 ENSG00000109572 OTTHUMG00000160973 uc003ish.4 X78520 NM_001243372 "CCDS34100|CCDS58932|CCDS34101|CCDS75208" P51790 MGI:103555 RGD:621219 600580 objectId:702 HGNC:2021 "ENST00000513761.6|NM_001829.4" HGNC:2021 HGNC:49775 CLCN3P1 chloride voltage-gated channel 3 pseudogene 1 pseudogene pseudogene Approved 9p22.3 09p22.3 chloride channel, voltage-sensitive 3 pseudogene 1 2014-02-14 2016-02-04 2016-02-04 100419056 ENSG00000232000 OTTHUMG00000019579 NG_023786 PGOHUM00000235971 HGNC:49775 -HGNC:2022 CLCN4 chloride voltage-gated channel 4 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "CLC4|ClC-4" "chloride channel 4|chloride channel, voltage-sensitive 4" Chloride voltage-gated channels 302 1994-01-28 2016-02-04 2023-01-20 1183 ENSG00000073464 OTTHUMG00000021125 uc004csy.5 X77197 NM_001256944 "CCDS14137|CCDS59159" P51793 "8069296|16034422|16034421" MGI:104571 RGD:708381 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLCN4 302910 461754 objectId:703 HGNC:2022 "ENST00000380833.9|NM_001830.4" HGNC:2022 -HGNC:2023 CLCN5 chloride voltage-gated channel 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "DENTS|XLRH|hClC-K2|hCIC-K2|CLC5|XRN|ClC-5" Dent disease "NPHL2|NPHL1" "nephrolithiasis 2, X-linked|nephrolithiasis 1 (X-linked)|chloride channel 5|chloride channel, voltage-sensitive 5" "Chloride voltage-gated channels|MicroRNA protein coding host genes" "302|1691" 1994-01-28 2016-02-04 2023-01-20 1184 ENSG00000171365 OTTHUMG00000021514 uc004dos.2 X91906 NM_000084 "CCDS48115|CCDS14328|CCDS69763" P51795 "7874126|8111383|8099916|8559248|9602200" MGI:99486 RGD:2362 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLCN5 300008 119453 objectId:704 HGNC:2023 "ENST00000376091.8|NM_001127898.4" HGNC:2023 -HGNC:2024 CLCN6 chloride voltage-gated channel 6 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "CLC-6|KIAA0046|ClC-6" "chloride channel 6|chloride channel, voltage-sensitive 6" Chloride voltage-gated channels 302 1997-04-21 2016-02-04 2023-03-15 1185 ENSG00000011021 OTTHUMG00000002299 uc001ate.6 X83378 NM_001286 "CCDS138|CCDS57972" P51797 8543009 MGI:1347049 RGD:1305379 Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/ 602726 objectId:705 HGNC:2024 "ENST00000346436.11|NM_001286.5" +HGNC:2022 CLCN4 chloride voltage-gated channel 4 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "CLC4|ClC-4" "chloride channel 4|chloride channel, voltage-sensitive 4" Chloride voltage-gated channels 302 1994-01-28 2016-02-04 2023-01-20 1183 ENSG00000073464 OTTHUMG00000021125 uc004csy.5 X77197 NM_001256944 "CCDS59159|CCDS14137" P51793 "8069296|16034422|16034421" MGI:104571 RGD:708381 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLCN4 302910 461754 objectId:703 HGNC:2022 "ENST00000380833.9|NM_001830.4" HGNC:2022 +HGNC:2023 CLCN5 chloride voltage-gated channel 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "DENTS|XLRH|hClC-K2|hCIC-K2|CLC5|XRN|ClC-5" Dent disease "NPHL2|NPHL1" "nephrolithiasis 2, X-linked|nephrolithiasis 1 (X-linked)|chloride channel 5|chloride channel, voltage-sensitive 5" "Chloride voltage-gated channels|MicroRNA protein coding host genes" "302|1691" 1994-01-28 2016-02-04 2023-01-20 1184 ENSG00000171365 OTTHUMG00000021514 uc004dos.2 X91906 NM_000084 "CCDS48115|CCDS69763|CCDS14328" P51795 "7874126|8111383|8099916|8559248|9602200" MGI:99486 RGD:2362 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLCN5 300008 119453 objectId:704 HGNC:2023 "ENST00000376091.8|NM_001127898.4" HGNC:2023 +HGNC:2024 CLCN6 chloride voltage-gated channel 6 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "CLC-6|KIAA0046|ClC-6" "chloride channel 6|chloride channel, voltage-sensitive 6" Chloride voltage-gated channels 302 1997-04-21 2016-02-04 2023-03-15 1185 ENSG00000011021 OTTHUMG00000002299 uc001ate.6 X83378 NM_001286 "CCDS57972|CCDS138" P51797 8543009 MGI:1347049 RGD:1305379 Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/ 602726 objectId:705 HGNC:2024 "ENST00000346436.11|NM_001286.5" HGNC:2025 CLCN7 chloride voltage-gated channel 7 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CLC-7|OPTA2|CLC7|ClC-7|PPP1R63" protein phosphatase 1, regulatory subunit 63 "chloride channel 7|chloride channel, voltage-sensitive 7" "Chloride voltage-gated channels|Protein phosphatase 1 regulatory subunits" "302|694" 1997-04-21 2016-02-04 2023-03-15 1186 ENSG00000103249 OTTHUMG00000044467 uc002clv.4 Z67743 NM_001287 CCDS32361 P51798 8543009 MGI:1347048 RGD:61836 602727 119462 objectId:706 HGNC:2025 "ENST00000382745.9|NM_001287.6" HGNC:2025 -HGNC:2026 CLCNKA chloride voltage-gated channel Ka protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "hClC-Ka|ClC-K1|CLCK1" Chloride channel protein ClC-Ka "chloride channel Ka|chloride channel, voltage-sensitive Ka" Chloride voltage-gated channels 302 1995-12-11 2016-02-04 2023-01-25 1187 ENSG00000186510 OTTHUMG00000009529 uc001axu.4 NM_001042704 "CCDS41269|CCDS57973|CCDS167" P51800 "8544406|17510212" "MGI:1329026|MGI:1930643" RGD:68435 602024 159370 objectId:700 HGNC:2026 "ENST00000331433.5|NM_004070.4" HGNC:2026 -HGNC:2027 CLCNKB chloride voltage-gated channel Kb protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "hClC-Kb|CLCKB|ClC-K2|ClC-Kb" Chloride channel protein ClC-Kb "chloride channel Kb|chloride channel, voltage-sensitive Kb" Chloride voltage-gated channels 302 1995-12-11 2016-02-04 2023-01-25 1188 ENSG00000184908 OTTHUMG00000009530 uc001axx.6 AK098217 NM_000085 "CCDS57974|CCDS168" P51801 "8812470|28555925" "MGI:1329026|MGI:1930643" RGD:628639 602023 119467 objectId:701 HGNC:2027 "ENST00000375679.9|NM_000085.5" HGNC:2027 +HGNC:2026 CLCNKA chloride voltage-gated channel Ka protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "hClC-Ka|ClC-K1|CLCK1" Chloride channel protein ClC-Ka "chloride channel Ka|chloride channel, voltage-sensitive Ka" Chloride voltage-gated channels 302 1995-12-11 2016-02-04 2023-01-25 1187 ENSG00000186510 OTTHUMG00000009529 uc001axu.4 NM_001042704 "CCDS57973|CCDS167|CCDS41269" P51800 "8544406|17510212" "MGI:1329026|MGI:1930643" RGD:68435 602024 159370 objectId:700 HGNC:2026 "ENST00000331433.5|NM_004070.4" HGNC:2026 +HGNC:2027 CLCNKB chloride voltage-gated channel Kb protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "hClC-Kb|CLCKB|ClC-K2|ClC-Kb" Chloride channel protein ClC-Kb "chloride channel Kb|chloride channel, voltage-sensitive Kb" Chloride voltage-gated channels 302 1995-12-11 2016-02-04 2023-01-25 1188 ENSG00000184908 OTTHUMG00000009530 uc001axx.6 AK098217 NM_000085 "CCDS168|CCDS57974" P51801 "8812470|28555925" "MGI:1329026|MGI:1930643" RGD:628639 602023 119467 objectId:701 HGNC:2027 "ENST00000375679.9|NM_000085.5" HGNC:2027 HGNC:19257 CLCP1 Charcot-Leyden crystal protein pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 2002-09-18 2016-07-22 266626 ENSG00000232305 OTTHUMG00000155638 NG_002369 PGOHUM00000297444 HGNC:19257 HGNC:42536 CLCP2 Charcot-Leyden crystal protein pseudogene 2 pseudogene pseudogene Approved 13q34 13q34 LGALS10P1 2011-08-04 2011-08-04 2016-07-22 100128145 ENSG00000226158 OTTHUMG00000017401 BK006815 NG_011415 PGOHUM00000292247 HGNC:42536 HGNC:2032 CLDN1 claudin 1 protein-coding gene gene with protein product Approved 3q28 03q28 "SEMP1|ILVASC" senescence-associated epithelial membrane protein 1 Claudins 488 1998-11-19 2023-01-20 9076 ENSG00000163347 OTTHUMG00000156214 uc003fsh.4 AF101051 NM_021101 CCDS3295 O95832 "10828592|9892664" MGI:1276109 RGD:68422 603718 119470 HGNC:2032 "ENST00000295522.4|NM_021101.5" HGNC:2032 HGNC:2041 CLDN2 claudin 2 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 Claudins 488 1998-11-19 2023-01-23 9075 ENSG00000165376 OTTHUMG00000022154 uc004emq.2 AK075405 NM_001171092 CCDS14524 P57739 9892664 MGI:1276110 RGD:1560247 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLDN2 300520 HGNC:2041 "ENST00000336803.2|NM_020384.4" HGNC:2041 HGNC:2045 CLDN3 claudin 3 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "RVP1|CPE-R2|HRVP1" "Clostridium perfringens enterotoxin receptor 2|ventral prostate.1-like protein|claudin-3|CPE-receptor 2" "C7orf1|CPETR2" Claudins 488 1998-07-23 2023-01-20 1365 ENSG00000165215 OTTHUMG00000023424 uc003tzg.4 AF007189 NM_001306 CCDS5559 O15551 "9441748|9892664" MGI:1329044 RGD:68425 602910 HGNC:2045 "ENST00000395145.3|NM_001306.4" HGNC:2046 CLDN4 claudin 4 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "CPE-R|WBSCR8|hCPE-R" "Clostridium perfringens enterotoxin receptor 1|Williams-Beuren syndrome chromosomal region 8 protein" "CPETR|CPETR1" Claudins 488 1998-04-22 2023-01-20 1364 ENSG00000189143 OTTHUMG00000023425 uc003tzh.2 AB000712 NM_001305 CCDS5560 O14493 "9334247|9892664" MGI:1313314 RGD:1307932 602909 HGNC:2046 "ENST00000340958.4|NM_001305.5" -HGNC:2047 CLDN5 claudin 5 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "CPETRL1|BEC1" "AWAL|TMVCF" transmembrane protein deleted in velocardiofacial syndrome Claudins 488 1997-03-19 2008-08-01 2023-01-20 7122 ENSG00000184113 OTTHUMG00000150441 uc062bmp.1 AF000959 NM_003277 "CCDS13763|CCDS93118" O00501 "9441748|9192844" MGI:1276112 RGD:68431 602101 HGNC:2047 "ENST00000618236.2|NM_001363066.2" +HGNC:2047 CLDN5 claudin 5 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "CPETRL1|BEC1" "AWAL|TMVCF" transmembrane protein deleted in velocardiofacial syndrome Claudins 488 1997-03-19 2008-08-01 2023-01-20 7122 ENSG00000184113 OTTHUMG00000150441 uc062bmp.1 AF000959 NM_003277 "CCDS93118|CCDS13763" O00501 "9441748|9192844" MGI:1276112 RGD:68431 602101 HGNC:2047 "ENST00000618236.2|NM_001363066.2" HGNC:2048 CLDN6 claudin 6 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Claudins 488 1998-11-19 2023-01-20 9074 ENSG00000184697 OTTHUMG00000128999 uc002csu.5 AJ249735 NM_021195 CCDS10488 P56747 "9892664|18234789" MGI:1859284 RGD:1308837 615798 HGNC:2048 "ENST00000328796.5|NM_021195.5" -HGNC:2049 CLDN7 claudin 7 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 Hs.84359 "CEPTRL2|CPETRL2" Claudins 488 1998-11-19 2023-01-20 1366 ENSG00000181885 OTTHUMG00000178005 uc002gfn.5 AJ011497 NM_001307 "CCDS54081|CCDS11096" O95471 9892664 MGI:1859285 RGD:68432 609131 HGNC:2049 "ENST00000360325.11|NM_001307.6" +HGNC:2049 CLDN7 claudin 7 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 Hs.84359 "CEPTRL2|CPETRL2" Claudins 488 1998-11-19 2023-01-20 1366 ENSG00000181885 OTTHUMG00000178005 uc002gfn.5 AJ011497 NM_001307 "CCDS11096|CCDS54081" O95471 9892664 MGI:1859285 RGD:68432 609131 HGNC:2049 "ENST00000360325.11|NM_001307.6" HGNC:54935 CLDN7P1 CLDN7 pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-29 2020-04-29 100129851 ENSG00000214031 NG_022591 HGNC:2050 CLDN8 claudin 8 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 Claudins 488 1998-11-19 2023-01-20 9073 ENSG00000156284 OTTHUMG00000081872 uc002ynu.3 AJ250711 NM_199328 CCDS13587 P56748 9892664 MGI:1859286 RGD:1308575 611231 HGNC:2050 "ENST00000399899.2|NM_199328.3" HGNC:2051 CLDN9 claudin 9 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Claudins 488 1998-07-23 2023-01-20 9080 ENSG00000213937 OTTHUMG00000129000 uc010uwo.1 AJ130941 NM_020982 CCDS10487 O95484 "9441748|18234789" MGI:1913100 RGD:1308999 615799 HGNC:2051 "ENST00000445369.3|NM_020982.4" -HGNC:2033 CLDN10 claudin 10 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "OSP-L|CPETRL3" Claudins 488 1999-01-22 2023-01-20 9071 ENSG00000134873 OTTHUMG00000017217 uc001vmh.3 U89916 NM_006984 "CCDS9476|CCDS9475" P78369 18025272 MGI:1913101 RGD:1308027 617579 HGNC:2033 "ENST00000299339.3|NM_006984.5" HGNC:2033 +HGNC:2033 CLDN10 claudin 10 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "OSP-L|CPETRL3" Claudins 488 1999-01-22 2023-01-20 9071 ENSG00000134873 OTTHUMG00000017217 uc001vmh.3 U89916 NM_006984 "CCDS9475|CCDS9476" P78369 18025272 MGI:1913101 RGD:1308027 617579 HGNC:2033 "ENST00000299339.3|NM_006984.5" HGNC:2033 HGNC:39907 CLDN10-AS1 CLDN10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.1 13q32.1 CLDN10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874194 ENSG00000223392 OTTHUMG00000017220 uc031qmx.1 NR_046533 CLDN10-AS1 HGNC:39907 HGNC:8514 CLDN11 claudin 11 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 OSP OTM oligodendrocyte transmembrane protein "Claudins|MicroRNA protein coding host genes" "488|1691" 1996-09-13 2008-08-01 2023-01-20 5010 ENSG00000013297 OTTHUMG00000158940 uc003fgx.4 AF068863 NM_005602 CCDS3213 O75508 "8661061|8797478" MGI:106925 RGD:71081 601326 HGNC:8514 "ENST00000064724.8|NM_005602.6" HGNC:8514 HGNC:2034 CLDN12 claudin 12 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 Claudins 488 1998-12-11 2023-01-20 9069 ENSG00000157224 OTTHUMG00000156612 uc003ukr.4 AJ250713 NM_012129 CCDS5618 P56749 MGI:1929288 RGD:1561053 611232 HGNC:2034 "ENST00000496677.6|NM_001185072.3" @@ -4854,45 +4854,45 @@ HGNC:55953 CLDN14-AS1 CLDN14 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:2036 CLDN15 claudin 15 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Claudins 488 1999-11-26 2023-03-15 24146 ENSG00000106404 OTTHUMG00000150512 uc003uyh.2 AJ245738 NM_014343 CCDS5717 P56746 MGI:1913103 RGD:1310678 615778 HGNC:2036 "ENST00000308344.10|NM_014343.3" HGNC:2037 CLDN16 claudin 16 protein-coding gene gene with protein product Approved 3q28 03q28 "PCLN1|HOMG3" "paracellin-1|hypomagnesemia 3, with hypercalciuria and nephrocalcinosis" Claudins 488 2000-01-07 2023-01-20 10686 ENSG00000113946 OTTHUMG00000156215 uc003fsi.3 AF152101 NM_006580 CCDS3296 Q9Y5I7 10390358 MGI:2148742 RGD:620322 603959 120625 HGNC:2037 "ENST00000264734.3|NM_006580.4" HGNC:2037 HGNC:2038 CLDN17 claudin 17 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "MGC126552|MGC126554" Claudins 488 1999-11-19 2023-01-20 26285 ENSG00000156282 OTTHUMG00000081873 uc011acv.3 AJ250712 NM_012131 CCDS13586 P56750 12736707 MGI:2652030 RGD:1307462 617005 HGNC:2038 "ENST00000286808.5|NM_012131.3" -HGNC:2039 CLDN18 claudin 18 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 SFTPJ surfactant associated protein J Claudins 488 2000-01-31 2023-01-20 51208 ENSG00000066405 OTTHUMG00000159762 uc003erp.2 "AF221069|AY102073" NM_001002026 "CCDS3095|CCDS33862" P56856 MGI:1929209 RGD:1359696 609210 objectId:2903 HGNC:2039 "ENST00000183605.10|NM_016369.4" -HGNC:2040 CLDN19 claudin 19 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Claudins 488 2000-03-15 2023-01-20 149461 ENSG00000164007 OTTHUMG00000007524 uc001chu.3 AK096063 NM_148960 "CCDS44125|CCDS53306|CCDS471" Q8N6F1 MGI:3033992 RGD:1305000 610036 120628 HGNC:2040 "ENST00000296387.6|NM_148960.3" HGNC:2040 +HGNC:2039 CLDN18 claudin 18 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 SFTPJ surfactant associated protein J Claudins 488 2000-01-31 2023-01-20 51208 ENSG00000066405 OTTHUMG00000159762 uc003erp.2 "AF221069|AY102073" NM_001002026 "CCDS33862|CCDS3095" P56856 MGI:1929209 RGD:1359696 609210 objectId:2903 HGNC:2039 "ENST00000183605.10|NM_016369.4" +HGNC:2040 CLDN19 claudin 19 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Claudins 488 2000-03-15 2023-01-20 149461 ENSG00000164007 OTTHUMG00000007524 uc001chu.3 AK096063 NM_148960 "CCDS471|CCDS53306|CCDS44125" Q8N6F1 MGI:3033992 RGD:1305000 610036 120628 HGNC:2040 "ENST00000296387.6|NM_148960.3" HGNC:2040 HGNC:2042 CLDN20 claudin 20 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 Claudins 488 2000-03-15 2023-01-20 49861 ENSG00000171217 OTTHUMG00000015882 uc003qql.2 BC020838 NM_001001346 CCDS5249 P56880 16836752 MGI:3646757 RGD:1595446 HGNC:2042 "ENST00000367165.3|NM_001001346.3" HGNC:2044 CLDN22 claudin 22 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 CLDN21 Claudins 488 2000-05-19 2023-01-20 53842 ENSG00000177300 OTTHUMG00000160627 uc010isa.2 AK098064 NM_001111319 CCDS43286 Q8N7P3 MGI:1922927 RGD:1305271 HGNC:2044 "ENST00000323319.7|NM_001111319.3" HGNC:17591 CLDN23 claudin 23 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 CLDNL Claudins 488 2004-06-14 2023-01-20 137075 ENSG00000253958 OTTHUMG00000163674 uc003wsi.4 AK123547 NM_194284 CCDS55195 Q96B33 12736707 MGI:1919158 RGD:1309001 609203 HGNC:17591 "ENST00000519106.2|NM_194284.3" HGNC:37200 CLDN24 claudin 24 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 CLDN21 claudin 21 Claudins 488 2009-09-22 2023-01-20 100132463 ENSG00000185758 OTTHUMG00000160628 uc021xva.1 NM_001185149 CCDS54824 A6NM45 12736707 MGI:3712484 RGD:1562043 HGNC:37200 "ENST00000541814.1|NM_001185149.1" HGNC:37218 CLDN25 claudin 25 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 Claudins 488 2009-09-22 2023-01-20 644672 ENSG00000228607 OTTHUMG00000168193 uc009yyw.2 NM_001101389 CCDS44736 C9JDP6 MGI:3642767 RGD:2322263 HGNC:37218 "ENST00000453129.3|NM_001101389.1" HGNC:51259 CLDN34 claudin 34 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 2015-03-18 2023-01-20 100288814 ENSG00000234469 OTTHUMG00000189259 NM_001195081 CCDS75951 H7C241 23726886 "MGI:1920311|MGI:1920597|MGI:1921184|MGI:1922237|MGI:3588232|MGI:3644765|MGI:3645962|MGI:3646000|MGI:3648293|MGI:3648403|MGI:3779684|MGI:3809203" RGD:2318711 HGNC:51259 "ENST00000445307.4|NM_001195081.2" -HGNC:1322 CLDND1 claudin domain containing 1 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 Z38 C3orf4 chromosome 3 open reading frame 4 2000-08-11 2005-12-23 2005-12-23 2023-01-20 56650 ENSG00000080822 OTTHUMG00000160050 uc003dss.4 AF116664 NM_019895 "CCDS46877|CCDS43116|CCDS2930" Q9NY35 28247935 MGI:2447860 RGD:1359273 619677 HGNC:1322 "ENST00000341181.11|NM_001040181.2" +HGNC:1322 CLDND1 claudin domain containing 1 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 Z38 C3orf4 chromosome 3 open reading frame 4 2000-08-11 2005-12-23 2005-12-23 2023-01-20 56650 ENSG00000080822 OTTHUMG00000160050 uc003dss.4 AF116664 NM_019895 "CCDS43116|CCDS2930|CCDS46877" Q9NY35 28247935 MGI:2447860 RGD:1359273 619677 HGNC:1322 "ENST00000341181.11|NM_001040181.2" HGNC:28511 CLDND2 claudin domain containing 2 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 MGC33839 2006-03-31 2023-01-20 125875 ENSG00000160318 OTTHUMG00000182901 uc002pwi.1 BC029518 NM_152353 CCDS12829 Q8NHS1 12477932 MGI:1921526 RGD:1566413 HGNC:28511 "ENST00000291715.5|NM_152353.3" -HGNC:24355 CLEC1A C-type lectin domain family 1 member A protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "CLEC1|CLEC-1|MGC34328" C-type lectin domain family 1, member A C-type lectin domain containing 1298 2005-02-09 2016-03-08 2023-01-20 51267 ENSG00000150048 OTTHUMG00000168504 uc001qxb.4 AY358587 NM_016511 "CCDS8612|CCDS76528|CCDS73443" Q8NC01 "10671229|11745369" MGI:2444151 RGD:1566110 606782 HGNC:24355 "ENST00000315330.8|NM_016511.4" +HGNC:24355 CLEC1A C-type lectin domain family 1 member A protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "CLEC1|CLEC-1|MGC34328" C-type lectin domain family 1, member A C-type lectin domain containing 1298 2005-02-09 2016-03-08 2023-01-20 51267 ENSG00000150048 OTTHUMG00000168504 uc001qxb.4 AY358587 NM_016511 "CCDS8612|CCDS73443|CCDS76528" Q8NC01 "10671229|11745369" MGI:2444151 RGD:1566110 606782 HGNC:24355 "ENST00000315330.8|NM_016511.4" HGNC:24356 CLEC1B C-type lectin domain family 1 member B protein-coding gene gene with protein product Approved 12p13.31-p13.2 12p13.31-p13.2 "CLEC2|CLEC-2" C-type lectin domain family 1, member B C-type lectin domain containing 1298 2005-02-09 2015-12-16 2023-01-20 51266 ENSG00000165682 OTTHUMG00000168502 uc001qwu.5 AF124841 NM_016509 "CCDS41752|CCDS41751" Q9P126 "10671229|11745369" MGI:1913287 RGD:1563517 606783 HGNC:24356 "ENST00000298527.11|NM_016509.4" -HGNC:24191 CLEC2A C-type lectin domain family 2 member A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "UNQ5792|INPE5792|KACL|PILAR" "keratinocyte-associated C-type lectin|proliferation-induced lymphocyte-associated receptor" C-type lectin domain family 2, member A C-type lectin domain containing 1298 2005-02-09 2015-12-16 2023-01-20 387836 ENSG00000188393 OTTHUMG00000140393 uc009zhc.2 AY359126 NM_207375 "CCDS44829|CCDS8606" Q6UVW9 12975309 MGI:3522133 612087 HGNC:24191 "ENST00000455827.2|NM_001130711.2" +HGNC:24191 CLEC2A C-type lectin domain family 2 member A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "UNQ5792|INPE5792|KACL|PILAR" "keratinocyte-associated C-type lectin|proliferation-induced lymphocyte-associated receptor" C-type lectin domain family 2, member A C-type lectin domain containing 1298 2005-02-09 2015-12-16 2023-01-20 387836 ENSG00000188393 OTTHUMG00000140393 uc009zhc.2 AY359126 NM_207375 "CCDS8606|CCDS44829" Q6UVW9 12975309 MGI:3522133 612087 HGNC:24191 "ENST00000455827.2|NM_001130711.2" HGNC:2053 CLEC2B C-type lectin domain family 2 member B protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "AICL|HP10085" CLECSF2 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)|C-type lectin domain family 2, member B" C-type lectin domain containing 1298 1999-05-07 2005-02-09 2015-12-16 2023-01-20 9976 ENSG00000110852 OTTHUMG00000168483 uc001qwn.4 X96719 NM_005127 CCDS8605 Q92478 9038101 603242 HGNC:2053 "ENST00000228438.3|NM_005127.3" -HGNC:14351 CLEC2D C-type lectin domain family 2 member D protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "LLT1|CLAX|OCIL" "C-type lectin related f|lectin-like transcript 1" "C-type lectin superfamily 2, member D|C-type lectin domain family 2, member D" C-type lectin domain containing 1298 2005-02-09 2015-12-16 2023-01-20 29121 ENSG00000069493 OTTHUMG00000168369 uc001qwg.4 AF133299 NM_013269 "CCDS31741|CCDS55802|CCDS55801|CCDS55800|CCDS8602" Q9UHP7 "MGI:1918059|MGI:2135589|MGI:2136650|MGI:2136934|MGI:3028921|MGI:3522133" RGD:620070 605659 HGNC:14351 "ENST00000290855.11|NM_013269.6" +HGNC:14351 CLEC2D C-type lectin domain family 2 member D protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "LLT1|CLAX|OCIL" "C-type lectin related f|lectin-like transcript 1" "C-type lectin superfamily 2, member D|C-type lectin domain family 2, member D" C-type lectin domain containing 1298 2005-02-09 2015-12-16 2023-01-20 29121 ENSG00000069493 OTTHUMG00000168369 uc001qwg.4 AF133299 NM_013269 "CCDS55800|CCDS55801|CCDS31741|CCDS8602|CCDS55802" Q9UHP7 "MGI:1918059|MGI:2135589|MGI:2136650|MGI:2136934|MGI:3028921|MGI:3522133" RGD:620070 605659 HGNC:14351 "ENST00000290855.11|NM_013269.6" HGNC:21969 CLEC2L C-type lectin domain family 2 member L protein-coding gene gene with protein product Approved 7q34 07q34 FLJ32986 C-type lectin domain family 2, member L C-type lectin domain containing 1298 2005-02-09 2015-12-16 2023-01-20 154790 ENSG00000236279 OTTHUMG00000164900 uc010lnd.4 AK057548 NM_001080511 CCDS47724 P0C7M8 MGI:2141402 RGD:1565373 HGNC:21969 "ENST00000422142.7|NM_001080511.4" HGNC:2052 CLEC3A C-type lectin domain family 3 member A protein-coding gene gene with protein product Approved 16q23.1 16q23.1 CLECSF1 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)|C-type lectin domain family 3, member A" C-type lectin domain containing 1298 1998-10-12 2005-02-11 2015-12-16 2023-01-20 10143 ENSG00000166509 OTTHUMG00000137620 uc002ffh.6 AF077345 NM_005752 CCDS10927 O75596 10524194 MGI:2685642 RGD:1306295 613588 HGNC:2052 "ENST00000299642.10|NM_005752.6" -HGNC:11891 CLEC3B C-type lectin domain family 3 member B protein-coding gene gene with protein product Approved 3p21.31 03p21.31 TN TNA "tetranectin (plasminogen binding protein)|C-type lectin domain family 3, member B" C-type lectin domain containing 1298 1993-08-26 2005-02-09 2015-12-16 2023-01-20 7123 ENSG00000163815 OTTHUMG00000133087 uc003cok.5 NM_003278 "CCDS77730|CCDS2726" P05452 MGI:104540 RGD:1311031 187520 HGNC:11891 "ENST00000296130.5|NM_003278.3" -HGNC:13257 CLEC4A C-type lectin domain family 4 member A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "DCIR|DDB27|CD367|hDCIR" CLECSF6 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6|C-type lectin domain family 4, member A" "CD molecules|C-type lectin domain containing" "471|1298" 2001-02-01 2005-02-09 2015-12-16 2023-01-20 50856 ENSG00000111729 OTTHUMG00000168571 uc001qtz.1 AJ133532 NM_194450 "CCDS8590|CCDS8591|CCDS8592|CCDS41745" Q9UMR7 10438934 "MGI:1349412|MGI:1920399|MGI:3036291|MGI:3624119" RGD:1359528 605306 objectId:2931 HGNC:13257 "ENST00000229332.12|NM_016184.4" -HGNC:13258 CLEC4C C-type lectin domain family 4 member C protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HECL|DLEC|BDCA2|CD303" "CLECSF11|CLECSF7" "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7|C-type lectin domain family 4, member C" "CD molecules|C-type lectin domain containing" "471|1298" 2000-12-21 2005-02-11 2015-12-16 2023-01-20 170482 ENSG00000198178 OTTHUMG00000168441 uc001qth.1 AF325460 NM_203503 "CCDS8583|CCDS8584" Q8WTT0 "11031109|11536172" MGI:1917060 RGD:1359354 606677 objectId:3135 CD303 HGNC:13258 "ENST00000360345.8|NM_001371390.1" HGNC:13258 +HGNC:11891 CLEC3B C-type lectin domain family 3 member B protein-coding gene gene with protein product Approved 3p21.31 03p21.31 TN TNA "tetranectin (plasminogen binding protein)|C-type lectin domain family 3, member B" C-type lectin domain containing 1298 1993-08-26 2005-02-09 2015-12-16 2023-01-20 7123 ENSG00000163815 OTTHUMG00000133087 uc003cok.5 NM_003278 "CCDS2726|CCDS77730" P05452 MGI:104540 RGD:1311031 187520 HGNC:11891 "ENST00000296130.5|NM_003278.3" +HGNC:13257 CLEC4A C-type lectin domain family 4 member A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "DCIR|DDB27|CD367|hDCIR" CLECSF6 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6|C-type lectin domain family 4, member A" "CD molecules|C-type lectin domain containing" "471|1298" 2001-02-01 2005-02-09 2015-12-16 2023-01-20 50856 ENSG00000111729 OTTHUMG00000168571 uc001qtz.1 AJ133532 NM_194450 "CCDS8592|CCDS41745|CCDS8591|CCDS8590" Q9UMR7 10438934 "MGI:1349412|MGI:1920399|MGI:3036291|MGI:3624119" RGD:1359528 605306 objectId:2931 HGNC:13257 "ENST00000229332.12|NM_016184.4" +HGNC:13258 CLEC4C C-type lectin domain family 4 member C protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HECL|DLEC|BDCA2|CD303" "CLECSF11|CLECSF7" "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7|C-type lectin domain family 4, member C" "CD molecules|C-type lectin domain containing" "471|1298" 2000-12-21 2005-02-11 2015-12-16 2023-01-20 170482 ENSG00000198178 OTTHUMG00000168441 uc001qth.1 AF325460 NM_203503 "CCDS8584|CCDS8583" Q8WTT0 "11031109|11536172" MGI:1917060 RGD:1359354 606677 objectId:3135 CD303 HGNC:13258 "ENST00000360345.8|NM_001371390.1" HGNC:13258 HGNC:14554 CLEC4D C-type lectin domain family 4 member D protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "Mpcl|CD368|MCL|Dectin-3" Dectin 3 CLECSF8 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8|C-type lectin domain family 4, member D" "CD molecules|C-type lectin domain containing" "471|1298" 2004-10-20 2005-02-11 2015-12-16 2023-01-20 338339 ENSG00000166527 OTTHUMG00000168674 uc001qun.4 AF411850 NM_080387 CCDS8593 Q8WXI8 MGI:1298389 RGD:1303339 609964 HGNC:14554 "ENST00000299665.3|NM_080387.5" -HGNC:14555 CLEC4E C-type lectin domain family 4 member E protein-coding gene gene with protein product Approved 12p13.31 12p13.31 MINCLE Macrophage-inducible C-type lectin CLECSF9 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9|C-type lectin domain family 4, member E" C-type lectin domain containing 1298 2001-02-01 2005-02-09 2015-12-16 2023-01-20 26253 ENSG00000166523 OTTHUMG00000168675 uc001quo.2 AB024718 NM_014358 "CCDS91649|CCDS8594" Q9ULY5 10528209 MGI:1861232 RGD:1359298 609962 objectId:2929 HGNC:14555 "ENST00000299663.8|NM_014358.4" -HGNC:25357 CLEC4F C-type lectin domain family 4 member F protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "FLJ39110|KCLR" CLECSF13 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13|C-type lectin domain family 4, member F" C-type lectin domain containing 1298 2004-02-16 2005-02-11 2015-12-16 2023-01-20 165530 ENSG00000152672 OTTHUMG00000129713 uc002shf.4 AK096429 NM_173535 "CCDS82464|CCDS1910" Q8N1N0 "8889548|1846367" MGI:1859834 RGD:621062 620105 HGNC:25357 "ENST00000272367.7|NM_173535.3" +HGNC:14555 CLEC4E C-type lectin domain family 4 member E protein-coding gene gene with protein product Approved 12p13.31 12p13.31 MINCLE Macrophage-inducible C-type lectin CLECSF9 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9|C-type lectin domain family 4, member E" C-type lectin domain containing 1298 2001-02-01 2005-02-09 2015-12-16 2023-01-20 26253 ENSG00000166523 OTTHUMG00000168675 uc001quo.2 AB024718 NM_014358 "CCDS8594|CCDS91649" Q9ULY5 10528209 MGI:1861232 RGD:1359298 609962 objectId:2929 HGNC:14555 "ENST00000299663.8|NM_014358.4" +HGNC:25357 CLEC4F C-type lectin domain family 4 member F protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "FLJ39110|KCLR" CLECSF13 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13|C-type lectin domain family 4, member F" C-type lectin domain containing 1298 2004-02-16 2005-02-11 2015-12-16 2023-01-20 165530 ENSG00000152672 OTTHUMG00000129713 uc002shf.4 AK096429 NM_173535 "CCDS1910|CCDS82464" Q8N1N0 "8889548|1846367" MGI:1859834 RGD:621062 620105 HGNC:25357 "ENST00000272367.7|NM_173535.3" HGNC:24591 CLEC4G C-type lectin domain family 4 member G protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "UNQ431|LSECTIN" "C-type lectin superfamily 4, member G|C-type lectin domain family 4, member G" C-type lectin domain containing 1298 2005-02-09 2015-12-16 2023-01-20 339390 ENSG00000182566 OTTHUMG00000182519 uc002mhp.4 AY358431 NM_198492 CCDS12185 Q6UXB4 12975309 MGI:1923113 RGD:1597482 616256 HGNC:24591 "ENST00000328853.11|NM_198492.4" HGNC:33502 CLEC4GP1 C-type lectin domain family 4 member G pseudogene 1 pseudogene pseudogene Approved 19p13.2 19p13.2 C-type lectin domain family 4, member G pseudogene 1 2007-06-21 2015-12-16 2015-12-16 440508 ENSG00000268297 OTTHUMG00000182531 BC047593 NR_002931 PGOHUM00000295177 HGNC:33502 HGNC:13523 CLEC4M C-type lectin domain family 4 member M protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HP10347|DC-SIGNR|LSIGN|DCSIGNR|DC-SIGN2" "CD209L|CD299" "CD299 antigen|C-type lectin domain family 4, member M" CD molecules 471 2000-09-19 2005-02-11 2015-12-16 2023-03-15 10332 ENSG00000104938 OTTHUMG00000182432 uc010dvt.3 AB015629 NM_014257 "CCDS59348|CCDS12187" Q9H2X3 10072769 "MGI:1916415|MGI:2157942" RGD:1561466 605872 CD299 HGNC:13523 "ENST00000327325.10|NM_014257.5" HGNC:52651 CLEC4OP C-type lectin domain family 4 member O, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 "LINC01835|CLEC4O" "long intergenic non-protein coding RNA 1835|C-type lectin domain family 4 member O" 2016-11-24 2021-03-08 2021-03-08 2021-03-08 102724279 ENSG00000267453 OTTHUMG00000182288 NR_171052 HGNC:52651 HGNC:2054 CLEC5A C-type lectin domain containing 5A protein-coding gene gene with protein product Approved 7q34 07q34 MDL-1 CLECSF5 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5|C-type lectin domain family 5, member A|C-type lectin domain family 5 member A" C-type lectin domain containing 1298 1999-10-19 2005-02-09 2017-03-23 2023-01-20 23601 ENSG00000258227 OTTHUMG00000157173 uc003vwv.1 NM_013252 "CCDS5870|CCDS75670" Q9NY25 10449773 MGI:1345151 RGD:1584755 604987 HGNC:2054 "ENST00000546910.6|NM_013252.3" HGNC:14556 CLEC6A C-type lectin domain containing 6A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "dectin-2|hDECTIN-2" CLECSF10 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10|C-type lectin domain family 6, member A|C-type lectin domain family 6 member A" C-type lectin domain containing 1298 2004-11-18 2005-02-11 2017-03-23 2023-01-20 93978 ENSG00000205846 OTTHUMG00000168672 uc001qum.2 AY321309 NM_001007033 CCDS31739 Q6EIG7 MGI:1861231 RGD:1359505 613579 objectId:2928 HGNC:14556 "ENST00000382073.4|NM_001007033.2" -HGNC:14558 CLEC7A C-type lectin domain containing 7A protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "DECTIN-1|hDectin-1|CD369|SCARE2" CLECSF12 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12|C-type lectin domain family 7, member A|C-type lectin domain family 7 member A" "CD molecules|Scavenger receptors|C-type lectin domain containing" "471|1253|1298" 2001-02-01 2005-02-09 2017-03-23 2023-03-15 64581 ENSG00000172243 OTTHUMG00000133597 uc001qxf.4 AY009090 NM_197954 "CCDS8614|CCDS41754|CCDS53744|CCDS41753|CCDS8617|CCDS8613" Q9BXN2 MGI:1861431 RGD:1565140 LRG_179|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_179.xml 606264 225288 objectId:2927 HGNC:14558 "ENST00000304084.13|NM_197947.3" HGNC:14558 +HGNC:14558 CLEC7A C-type lectin domain containing 7A protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "DECTIN-1|hDectin-1|CD369|SCARE2" CLECSF12 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12|C-type lectin domain family 7, member A|C-type lectin domain family 7 member A" "CD molecules|Scavenger receptors|C-type lectin domain containing" "471|1253|1298" 2001-02-01 2005-02-09 2017-03-23 2023-03-15 64581 ENSG00000172243 OTTHUMG00000133597 uc001qxf.4 AY009090 NM_197954 "CCDS8617|CCDS8613|CCDS8614|CCDS53744|CCDS41753|CCDS41754" Q9BXN2 MGI:1861431 RGD:1565140 LRG_179|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_179.xml 606264 225288 objectId:2927 HGNC:14558 "ENST00000304084.13|NM_197947.3" HGNC:14558 HGNC:26705 CLEC9A C-type lectin domain containing 9A protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "UNQ9341|HEEE9341|CD370|DNGR-1" "C-type lectin domain family 9, member A|C-type lectin domain family 9 member A" "CD molecules|C-type lectin domain containing" "471|1298" 2005-02-09 2017-03-23 2023-01-20 283420 ENSG00000197992 OTTHUMG00000168398 uc001qxa.4 NM_207345 CCDS8611 Q6UXN8 MGI:2444608 RGD:1562513 612252 HGNC:26705 "ENST00000355819.6|NM_207345.4" HGNC:16916 CLEC10A C-type lectin domain containing 10A protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "HML2|HML|CD301" macrophage lectin 2 (calcium dependent) "CLECSF13|CLECSF14" "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)|C-type lectin domain family 10, member A|C-type lectin domain family 10 member A" "CD molecules|C-type lectin domain containing" "471|1298" 2003-08-06 2005-02-11 2017-03-23 2023-01-20 10462 ENSG00000132514 OTTHUMG00000177939 uc002gej.4 D50532 NM_006344 "CCDS11087|CCDS82049|CCDS45597" Q8IUN9 8598452 "MGI:96975|MGI:2385729" RGD:621158 605999 CD301 HGNC:16916 "ENST00000416562.7|NM_001330070.2" HGNC:10576 CLEC11A C-type lectin domain containing 11A protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "P47|LSLCL|CLECSF3" SCGF "stem cell growth factor; lymphocyte secreted C-type lectin|C-type lectin domain family 11, member A|C-type lectin domain family 11 member A" C-type lectin domain containing 1298 1997-10-30 2005-02-11 2017-03-23 2023-01-20 6320 ENSG00000105472 OTTHUMG00000182866 uc002psy.4 AF087658 NM_002975 CCDS12800 Q9Y240 "9207134|9442024" MGI:1298219 RGD:3627 604713 HGNC:10576 "ENST00000250340.9|NM_002975.3" -HGNC:31713 CLEC12A C-type lectin domain family 12 member A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CLL-1|MICL|CD371|DCAL-2" "dendritic cell-associated lectin 2|myeloid inhibitory C-type lectin-like receptor" C-type lectin domain family 12, member A "CD molecules|C-type lectin domain containing" "471|1298" 2005-02-09 2017-03-23 2023-01-20 160364 ENSG00000172322 OTTHUMG00000168396 uc001qwq.3 AY498550 NM_138337 "CCDS73442|CCDS55803|CCDS8608|CCDS8609" Q5QGZ9 MGI:3040968 RGD:1592991 612088 objectId:3081 HGNC:31713 "ENST00000304361.9|NM_138337.6" +HGNC:31713 CLEC12A C-type lectin domain family 12 member A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CLL-1|MICL|CD371|DCAL-2" "dendritic cell-associated lectin 2|myeloid inhibitory C-type lectin-like receptor" C-type lectin domain family 12, member A "CD molecules|C-type lectin domain containing" "471|1298" 2005-02-09 2017-03-23 2023-01-20 160364 ENSG00000172322 OTTHUMG00000168396 uc001qwq.3 AY498550 NM_138337 "CCDS73442|CCDS8609|CCDS55803|CCDS8608" Q5QGZ9 MGI:3040968 RGD:1592991 612088 objectId:3081 HGNC:31713 "ENST00000304361.9|NM_138337.6" HGNC:53407 CLEC12A-AS1 CLEC12A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 Antisense RNAs 1987 2017-03-28 2023-03-15 400002 ENSG00000231560 OTTHUMG00000150192 NR_135047 HGNC:53407 HGNC:31966 CLEC12B C-type lectin domain family 12 member B protein-coding gene gene with protein product Approved 12p13.2 12p13.2 C-type lectin domain family 12, member B C-type lectin domain containing 1298 2007-07-27 2015-12-16 2023-01-20 387837 ENSG00000256660 OTTHUMG00000168397 uc001qwz.3 AK128243 NM_205852 "CCDS44830|CCDS8610" Q2HXU8 17562706 MGI:1918433 RGD:1560487 617573 HGNC:31966 "ENST00000338896.11|NM_001129998.3" HGNC:19832 CLEC14A C-type lectin domain containing 14A protein-coding gene gene with protein product Approved 14q21.1 14q21.1 C14orf27 "chromosome 14 open reading frame 27|C-type lectin domain family 14, member A|C-type lectin domain family 14 member A" C-type lectin domain containing 1298 2003-01-13 2005-02-11 2017-03-23 2023-01-20 161198 ENSG00000176435 OTTHUMG00000140248 uc001wum.3 NM_175060 CCDS9667 Q86T13 MGI:1914114 RGD:1306232 616845 HGNC:19832 "ENST00000342213.3|NM_175060.3" -HGNC:29013 CLEC16A C-type lectin domain containing 16A protein-coding gene gene with protein product Approved 16p13.13 16p13.13 Gop-1 KIAA0350 "KIAA0350|C-type lectin domain family 16, member A|C-type lectin domain family 16 member A" C-type lectin domain containing 1298 2006-08-25 2007-07-17 2017-03-23 2023-01-20 23274 ENSG00000038532 OTTHUMG00000152915 uc059qub.1 AB002348 NM_015226 "CCDS92106|CCDS58423|CCDS45409" Q2KHT3 "9205841|17632545" MGI:1921624 RGD:1305773 611303 HGNC:29013 "ENST00000409790.6|NM_015226.3" HGNC:29013 -HGNC:34520 CLEC17A C-type lectin domain containing 17A protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ45910 prolectin "C-type lectin domain family 17, member A|C-type lectin domain family 17 member A" C-type lectin domain containing 1298 2008-08-15 2017-03-23 2023-01-20 388512 ENSG00000187912 OTTHUMG00000169312 uc010dzn.3 AK127809 NM_207390 "CCDS46002|CCDS56087" Q6ZS10 19419970 616838 HGNC:34520 "ENST00000417570.6|NM_001204118.2" +HGNC:29013 CLEC16A C-type lectin domain containing 16A protein-coding gene gene with protein product Approved 16p13.13 16p13.13 Gop-1 KIAA0350 "KIAA0350|C-type lectin domain family 16, member A|C-type lectin domain family 16 member A" C-type lectin domain containing 1298 2006-08-25 2007-07-17 2017-03-23 2023-01-20 23274 ENSG00000038532 OTTHUMG00000152915 uc059qub.1 AB002348 NM_015226 "CCDS92106|CCDS45409|CCDS58423" Q2KHT3 "9205841|17632545" MGI:1921624 RGD:1305773 611303 HGNC:29013 "ENST00000409790.6|NM_015226.3" HGNC:29013 +HGNC:34520 CLEC17A C-type lectin domain containing 17A protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ45910 prolectin "C-type lectin domain family 17, member A|C-type lectin domain family 17 member A" C-type lectin domain containing 1298 2008-08-15 2017-03-23 2023-01-20 388512 ENSG00000187912 OTTHUMG00000169312 uc010dzn.3 AK127809 NM_207390 "CCDS56087|CCDS46002" Q6ZS10 19419970 616838 HGNC:34520 "ENST00000417570.6|NM_001204118.2" HGNC:30388 CLEC18A C-type lectin domain family 18 member A protein-coding gene gene with protein product Approved 16q22.1 16q22.1 MRCL "mannose receptor-like|C-type lectin domain family 18, member A" "C-type lectin domain containing|CAP and C-type lectin domain containing" "1298|1487" 2009-03-06 2009-03-10 2015-12-16 2023-01-20 348174 ENSG00000157322 OTTHUMG00000137574 uc010vlo.3 AF428259 NM_182619 CCDS10886 A5D8T8 "12975309|26170455" MGI:2672935 RGD:1559899 616571 HGNC:30388 "ENST00000288040.11|NM_001370523.4" HGNC:33849 CLEC18B C-type lectin domain family 18 member B protein-coding gene gene with protein product Approved 16q23.1 16q23.1 MRCL2 "mannose receptor-like 2|C-type lectin domain family 18, member B" "C-type lectin domain containing|CAP and C-type lectin domain containing" "1298|1487" 2009-03-06 2009-03-10 2015-12-16 2023-01-20 497190 ENSG00000140839 OTTHUMG00000176998 uc002fct.4 AY358373 NM_001011880 "CCDS32484|CCDS92195" Q6UXF7 MGI:2672935 616572 HGNC:33849 "ENST00000682950.1|NM_001385193.1" HGNC:28538 CLEC18C C-type lectin domain family 18 member C protein-coding gene gene with protein product Approved 16q22.1 16q22.1 MGC34761 MRCL3 "mannose receptor-like 3|C-type lectin domain family 18, member C" "C-type lectin domain containing|CAP and C-type lectin domain containing" "1298|1487" 2009-03-06 2009-03-10 2015-12-16 2023-01-20 283971 ENSG00000157335 OTTHUMG00000176982 uc059wnv.1 AL833339 NM_173619 CCDS32473 Q8NCF0 26170455 MGI:2672935 616573 HGNC:28538 "ENST00000541793.7|NM_173619.4" @@ -4900,7 +4900,7 @@ HGNC:34522 CLEC19A C-type lectin domain containing 19A protein-coding gene gene HGNC:34521 CLEC20A C-type lectin domain containing 20A protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "FLJ44005|RP4-593C16.2" "NCRNA00083|LINC00083" "non-protein coding RNA 83|long intergenic non-protein coding RNA 83|C-type lectin domain family 20 member A" C-type lectin domain containing 1298 2008-09-02 2017-01-19 2017-03-23 2023-01-20 400797 ENSG00000188585 OTTHUMG00000035021 uc057nok.1 AK125993 NM_001395331 CCDS91118 Q6ZU45 RGD:7603387 HGNC:34521 "ENST00000623247.3|NM_001395331.1" HGNC:24462 CLECL1P C-type lectin like 1, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 DCAL1 dendritic cell associated lectin 1 CLECL1 "C-type lectin-like 1|C-type lectin like 1" 2007-06-21 2022-06-07 2022-06-07 2023-03-15 160365 ENSG00000184293 OTTHUMG00000168459 uc001qwj.4 AF518873 NR_172485 Q8IZS7 12421943 607467 HGNC:24462 HGNC:2060 CLGN calmegin protein-coding gene gene with protein product Approved 4q31.1 04q31.1 1997-01-14 2023-01-20 1047 ENSG00000153132 OTTHUMG00000133414 uc003iii.4 D86322 NM_004362 CCDS3751 O14967 MGI:107472 RGD:1592643 601858 HGNC:2060 "ENST00000325617.10|NM_004362.3" -HGNC:26453 CLHC1 clathrin heavy chain linker domain containing 1 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 FLJ31438 C2orf63 chromosome 2 open reading frame 63 TSNAXIP1 domain containing 2229 2007-12-07 2012-08-03 2012-08-03 2023-01-20 130162 ENSG00000162994 OTTHUMG00000151918 uc002ryj.3 NM_152385 "CCDS33201|CCDS46287" Q8NHS4 MGI:1920574 RGD:1307937 HGNC:26453 "ENST00000401408.6|NM_152385.4" +HGNC:26453 CLHC1 clathrin heavy chain linker domain containing 1 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 FLJ31438 C2orf63 chromosome 2 open reading frame 63 TSNAXIP1 domain containing 2229 2007-12-07 2012-08-03 2012-08-03 2023-01-20 130162 ENSG00000162994 OTTHUMG00000151918 uc002ryj.3 NM_152385 "CCDS46287|CCDS33201" Q8NHS4 MGI:1920574 RGD:1307937 HGNC:26453 "ENST00000401408.6|NM_152385.4" HGNC:2062 CLIC1 chloride intracellular channel 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "NCC27|p64CLCP|G6|CLCNL1" Chloride intracellular channels 307 1997-07-01 2023-01-20 1192 ENSG00000213719 OTTHUMG00000031103 uc063yyp.1 U93205 NM_001288 CCDS4719 O00299 9139710 MGI:2148924 RGD:1303043 602872 HGNC:2062 "ENST00000375784.8|NM_001288.6" HGNC:32691 CLIC1P1 chloride intracellular channel 1 pseudogene 1 pseudogene pseudogene Approved 12q24.31 12q24.31 2006-04-07 2020-04-20 390363 ENSG00000231313 OTTHUMG00000169145 NG_021736 PGOHUM00000291822 HGNC:32691 HGNC:2063 CLIC2 chloride intracellular channel 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "XAP121|CLCNL2" Chloride intracellular channels 307 1997-10-17 2023-01-20 1193 ENSG00000155962 OTTHUMG00000022660 uc004fnf.5 AJ000217 NM_001289 CCDS14767 O15247 9339381 RGD:1306580 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLIC2 300138 327331 HGNC:2063 "ENST00000369449.7|NM_001289.6" HGNC:2063 @@ -4909,16 +4909,16 @@ HGNC:13518 CLIC4 chloride intracellular channel 4 protein-coding gene gene with HGNC:49797 CLIC4P1 chloride intracellular channel 4 pseudogene 1 pseudogene pseudogene Approved 9p21.3 09p21.3 2014-02-21 2014-02-21 646609 ENSG00000236739 OTTHUMG00000019694 NG_021641 PGOHUM00000236413 HGNC:49797 HGNC:49798 CLIC4P2 chloride intracellular channel 4 pseudogene 2 pseudogene pseudogene Approved 19p13.3 19p13.3 2014-02-21 2016-11-09 100130584 ENSG00000269546 OTTHUMG00000181833 NG_021738 PGOHUM00000294849 HGNC:49798 HGNC:49799 CLIC4P3 chloride intracellular channel 4 pseudogene 3 pseudogene pseudogene Approved Xp11.4 Xp11.4 2014-02-21 2014-02-21 442447 ENSG00000237931 OTTHUMG00000021365 NG_022657 PGOHUM00000241721 HGNC:49799 -HGNC:13517 CLIC5 chloride intracellular channel 5 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 DFNB102 Chloride intracellular channels 307 2000-10-31 2023-01-20 53405 ENSG00000112782 OTTHUMG00000014775 uc003oxu.5 AF216941 NM_001114086 "CCDS47438|CCDS4914|CCDS59022" Q9NZA1 "10793131|24781754" MGI:1917912 RGD:620659 607293 406620 HGNC:13517 "ENST00000339561.12|NM_016929.5" HGNC:13517 -HGNC:2065 CLIC6 chloride intracellular channel 6 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 CLIC5 CLIC1L Chloride intracellular channels 307 2000-05-23 2023-01-20 54102 ENSG00000159212 OTTHUMG00000086237 uc002yuf.2 AF426169 NM_001317009 "CCDS13638|CCDS82669" Q96NY7 10830953 MGI:2146607 RGD:727938 615321 HGNC:2065 "ENST00000349499.3|NM_053277.3" -HGNC:23186 CLINT1 clathrin interactor 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "ENTH|KIAA0171|EPNR|CLINT" 2006-06-13 2023-01-20 9685 ENSG00000113282 OTTHUMG00000163527 uc003lxj.3 AF434813 NM_014666 "CCDS56389|CCDS47330|CCDS56388" Q14677 "12213833|12429846" MGI:2144243 RGD:1303328 607265 HGNC:23186 "ENST00000411809.7|NM_014666.4" +HGNC:13517 CLIC5 chloride intracellular channel 5 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 DFNB102 Chloride intracellular channels 307 2000-10-31 2023-01-20 53405 ENSG00000112782 OTTHUMG00000014775 uc003oxu.5 AF216941 NM_001114086 "CCDS4914|CCDS47438|CCDS59022" Q9NZA1 "10793131|24781754" MGI:1917912 RGD:620659 607293 406620 HGNC:13517 "ENST00000339561.12|NM_016929.5" HGNC:13517 +HGNC:2065 CLIC6 chloride intracellular channel 6 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 CLIC5 CLIC1L Chloride intracellular channels 307 2000-05-23 2023-01-20 54102 ENSG00000159212 OTTHUMG00000086237 uc002yuf.2 AF426169 NM_001317009 "CCDS82669|CCDS13638" Q96NY7 10830953 MGI:2146607 RGD:727938 615321 HGNC:2065 "ENST00000349499.3|NM_053277.3" +HGNC:23186 CLINT1 clathrin interactor 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "ENTH|KIAA0171|EPNR|CLINT" 2006-06-13 2023-01-20 9685 ENSG00000113282 OTTHUMG00000163527 uc003lxj.3 AF434813 NM_014666 "CCDS56388|CCDS47330|CCDS56389" Q14677 "12213833|12429846" MGI:2144243 RGD:1303328 607265 HGNC:23186 "ENST00000411809.7|NM_014666.4" HGNC:10461 CLIP1 CAP-Gly domain containing linker protein 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "CYLN1|CLIP170|CLIP|CLIP-170" restin RSN "restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)|CAP-GLY domain containing linker protein 1" 1993-06-10 2007-01-05 2015-11-17 2023-01-20 6249 ENSG00000130779 OTTHUMG00000168922 uc001ucg.2 NM_002956 "CCDS9232|CCDS9233|CCDS58285" P30622 8222754 MGI:1928401 RGD:67404 CLIP1 179838 406382 HGNC:10461 "ENST00000620786.5|NM_001247997.2" HGNC:10461 HGNC:48586 CLIP1-AS1 CLIP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Antisense RNAs 1987 2014-03-26 2014-03-26 100507066 ENSG00000257097 OTTHUMG00000168927 NR_045382 CLIP1-AS1 HGNC:48586 -HGNC:2586 CLIP2 CAP-Gly domain containing linker protein 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "CLIP-115|KIAA0291|WSCR4|CLIP|WSCR3" "WBSCR4|CYLN2|WBSCR3" "cytoplasmic linker 2|Williams-Beuren syndrome chromosome region 3|CAP-GLY domain containing linker protein 2" 1997-09-12 2007-01-04 2015-11-17 2023-01-20 7461 ENSG00000106665 OTTHUMG00000022980 uc003uam.3 AB006629 NM_003388 "CCDS5569|CCDS5570" Q9UDT6 "8812460|9799601" MGI:1313136 RGD:62019 603432 120630 HGNC:2586 "ENST00000223398.11|NM_003388.5" +HGNC:2586 CLIP2 CAP-Gly domain containing linker protein 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "CLIP-115|KIAA0291|WSCR4|CLIP|WSCR3" "WBSCR4|CYLN2|WBSCR3" "cytoplasmic linker 2|Williams-Beuren syndrome chromosome region 3|CAP-GLY domain containing linker protein 2" 1997-09-12 2007-01-04 2015-11-17 2023-01-20 7461 ENSG00000106665 OTTHUMG00000022980 uc003uam.3 AB006629 NM_003388 "CCDS5570|CCDS5569" Q9UDT6 "8812460|9799601" MGI:1313136 RGD:62019 603432 120630 HGNC:2586 "ENST00000223398.11|NM_003388.5" HGNC:24314 CLIP3 CAP-Gly domain containing linker protein 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "CLIPR-59|RSNL1" "CLIP-170-related|restin-like 1" CAP-GLY domain containing linker protein 3 Ankyrin repeat domain containing 403 2007-01-04 2015-11-17 2023-01-20 25999 ENSG00000105270 OTTHUMG00000181747 uc002ocz.3 AJ427922 NM_015526 CCDS12486 Q96DZ5 11854307 MGI:1923936 RGD:1306245 607382 HGNC:24314 "ENST00000360535.9|NM_015526.3" -HGNC:26108 CLIP4 CAP-Gly domain containing linker protein family member 4 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 FLJ21069 RSNL2 "restin-like 2|CAP-GLY domain containing linker protein family, member 4" Ankyrin repeat domain containing 403 2004-11-29 2007-01-04 2015-11-17 2023-01-20 79745 ENSG00000115295 OTTHUMG00000097837 uc002rmv.4 AK024722 NM_024692 "CCDS74502|CCDS92728|CCDS1770" Q8N3C7 MGI:1919100 RGD:1311049 HGNC:26108 "ENST00000320081.10|NM_024692.6" -HGNC:2068 CLK1 CDC like kinase 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 CDC-like kinase 1 CDC like kinases 480 1991-08-07 2015-11-12 2023-01-20 1195 ENSG00000013441 OTTHUMG00000132784 uc002uwe.3 L29219 NM_001162407 "CCDS54427|CCDS2331" P49759 9856501 MGI:107403 RGD:1311469 601951 objectId:1990 HGNC:2068 "ENST00000321356.9|NM_004071.4" -HGNC:2069 CLK2 CDC like kinase 2 protein-coding gene gene with protein product Approved 1q22 01q22 CDC-like kinase 2 CDC like kinases 480 1998-02-11 2015-11-12 2023-01-20 1196 ENSG00000176444 OTTHUMG00000035873 uc001fjw.4 L29218 NM_003993 "CCDS86020|CCDS1107|CCDS72939" P49760 "7990150|9856501" MGI:1098669 RGD:1359711 602989 objectId:1991 HGNC:2069 "ENST00000368361.9|NM_001294338.2" +HGNC:26108 CLIP4 CAP-Gly domain containing linker protein family member 4 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 FLJ21069 RSNL2 "restin-like 2|CAP-GLY domain containing linker protein family, member 4" Ankyrin repeat domain containing 403 2004-11-29 2007-01-04 2015-11-17 2023-01-20 79745 ENSG00000115295 OTTHUMG00000097837 uc002rmv.4 AK024722 NM_024692 "CCDS92728|CCDS1770|CCDS74502" Q8N3C7 MGI:1919100 RGD:1311049 HGNC:26108 "ENST00000320081.10|NM_024692.6" +HGNC:2068 CLK1 CDC like kinase 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 CDC-like kinase 1 CDC like kinases 480 1991-08-07 2015-11-12 2023-01-20 1195 ENSG00000013441 OTTHUMG00000132784 uc002uwe.3 L29219 NM_001162407 "CCDS2331|CCDS54427" P49759 9856501 MGI:107403 RGD:1311469 601951 objectId:1990 HGNC:2068 "ENST00000321356.9|NM_004071.4" +HGNC:2069 CLK2 CDC like kinase 2 protein-coding gene gene with protein product Approved 1q22 01q22 CDC-like kinase 2 CDC like kinases 480 1998-02-11 2015-11-12 2023-01-20 1196 ENSG00000176444 OTTHUMG00000035873 uc001fjw.4 L29218 NM_003993 "CCDS72939|CCDS1107|CCDS86020" P49760 "7990150|9856501" MGI:1098669 RGD:1359711 602989 objectId:1991 HGNC:2069 "ENST00000368361.9|NM_001294338.2" HGNC:2070 CLK2P1 CDC like kinase 2, pseudogene 1 pseudogene pseudogene Approved 7p15.3 07p15.3 CLK2P "CDC-like kinase 2, pseudogene|CDC-like kinase 2, pseudogene 1" 1998-03-20 2015-02-06 2015-11-12 2015-11-12 1197 ENSG00000232553 OTTHUMG00000152684 BC022025 NR_002711 "7990150|9856501" PGOHUM00000302070 HGNC:2070 HGNC:2071 CLK3 CDC like kinase 3 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 CDC-like kinase 3 CDC like kinases 480 1998-02-11 2015-11-12 2023-03-15 1198 ENSG00000179335 OTTHUMG00000141320 uc002ayg.4 L29220 NM_001130028 CCDS10265 P49761 "7990150|9856501" MGI:1098670 RGD:621259 602990 objectId:1992 HGNC:2071 "ENST00000395066.9|NM_001130028.2" HGNC:49785 CLK3P1 CDC like kinase 3 pseudogene 1 pseudogene pseudogene Approved 9p22.1 09p22.1 CDC-like kinase 3 pseudogene 1 2014-02-14 2015-11-12 2015-11-12 646505 NG_007302 PGOHUM00000235982 HGNC:49785 @@ -4929,42 +4929,42 @@ HGNC:24070 CLLU1-AS1 CLLU1 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:52287 CLMAT3 colorectal liver metastasis associated transcript 3 non-coding RNA RNA, long non-coding Approved 5q33.1 05q33.1 SPARC-AS1 SPARC antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2017-06-15 2017-06-15 101927096 ENSG00000249035 OTTHUMG00000163500 NR_109873 26050227 HGNC:52287 HGNC:19972 CLMN calmin protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "FLJ12383|KIAA1188|KIAA0500" calmin (calponin-like, transmembrane) 2002-12-09 2016-07-05 2023-01-20 79789 ENSG00000165959 OTTHUMG00000171629 uc001yef.3 AB033014 NM_024734 CCDS9933 Q96JQ2 11386753 MGI:2136957 RGD:1306741 611121 HGNC:19972 "ENST00000298912.9|NM_024734.4" HGNC:24039 CLMP CXADR like membrane protein protein-coding gene gene with protein product Approved 11q24.1 11q24.1 "ASAM|FLJ22415|ACAM" "adipocyte-specific adhesion molecule|coxsackie- and adenovirus receptor-like membrane protein|adipocyte adhesion molecule" "I-set domain containing|IgCAM CXADR-related subfamily" "593|1414" 2011-01-27 2016-06-21 2023-01-20 79827 ENSG00000166250 OTTHUMG00000166031 uc001pyt.4 BC009371 NM_024769 CCDS8441 Q9H6B4 "12851705|14573622" MGI:1918816 RGD:708569 611693 293034 HGNC:24039 "ENST00000448775.4|NM_024769.5" HGNC:24039 -HGNC:2074 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "JNCL|BTN1" juvenile neuronal ceroid lipofuscinosis BTS "Batten, Spielmeyer-Vogt disease|ceroid-lipofuscinosis, neuronal 3|CLN3, battenin" 1989-06-06 2019-01-25 2023-03-15 1201 ENSG00000188603 OTTHUMG00000097024 uc002dpo.4 U32680 NM_000086 "CCDS10632|CCDS73854|CCDS73855|CCDS73853" Q13286 18317235 MGI:107537 RGD:1359537 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|Mutations of the CLN3 Gene|http://www.retina-international.org/files/sci-news/cln3mut.htm|LRG_689|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_689.xml" 607042 120638 HGNC:2074 "ENST00000636147.2|NM_001042432.2" HGNC:2074 -HGNC:2076 CLN5 CLN5 intracellular trafficking protein protein-coding gene gene with protein product Approved 13q22.3 13q22.3 "ceroid-lipofuscinosis, neuronal 5|CLN5, intracellular trafficking protein" 1993-11-03 2019-01-25 2023-01-20 1203 ENSG00000102805 OTTHUMG00000017100 uc001vkc.4 NM_006493 "CCDS91815|CCDS9456" O75503 "7942847|8661106" MGI:2442253 RGD:1306965 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_692|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_692.xml" 608102 120641 HGNC:2076 "ENST00000377453.9|NM_006493.4" HGNC:2076 +HGNC:2074 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "JNCL|BTN1" juvenile neuronal ceroid lipofuscinosis BTS "Batten, Spielmeyer-Vogt disease|ceroid-lipofuscinosis, neuronal 3|CLN3, battenin" 1989-06-06 2019-01-25 2023-03-15 1201 ENSG00000188603 OTTHUMG00000097024 uc002dpo.4 U32680 NM_000086 "CCDS10632|CCDS73855|CCDS73853|CCDS73854" Q13286 18317235 MGI:107537 RGD:1359537 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|Mutations of the CLN3 Gene|http://www.retina-international.org/files/sci-news/cln3mut.htm|LRG_689|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_689.xml" 607042 120638 HGNC:2074 "ENST00000636147.2|NM_001042432.2" HGNC:2074 +HGNC:2076 CLN5 CLN5 intracellular trafficking protein protein-coding gene gene with protein product Approved 13q22.3 13q22.3 "ceroid-lipofuscinosis, neuronal 5|CLN5, intracellular trafficking protein" 1993-11-03 2019-01-25 2023-01-20 1203 ENSG00000102805 OTTHUMG00000017100 uc001vkc.4 NM_006493 "CCDS9456|CCDS91815" O75503 "7942847|8661106" MGI:2442253 RGD:1306965 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_692|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_692.xml" 608102 120641 HGNC:2076 "ENST00000377453.9|NM_006493.4" HGNC:2076 HGNC:2077 CLN6 CLN6 transmembrane ER protein protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ20561|HsT18960|nclf" "ceroid-lipofuscinosis, neuronal 6, late infantile, variant|CLN6, transmembrane ER protein" 1996-10-11 2019-01-25 2023-01-20 54982 ENSG00000128973 OTTHUMG00000133286 uc002arf.3 AK000568 NM_017882 "CCDS10227|CCDS92032" Q9NWW5 "9097964|11727201" MGI:2159324 RGD:1309714 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_832|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_832.xml" 606725 120643 HGNC:2077 "ENST00000249806.11|NM_017882.3" HGNC:2077 HGNC:2079 CLN8 CLN8 transmembrane ER and ERGIC protein protein-coding gene gene with protein product Approved 8p23.3 08p23.3 "FLJ39417|TLCD6" "EPMR|C8orf61" "chromosome 8 open reading frame 61|epilepsy, progressive with mental retardation|ceroid-lipofuscinosis, neuronal 8|CLN8, transmembrane ER and ERGIC protein" TLC domain containing 1374 1993-12-15 2019-01-25 2023-01-20 2055 ENSG00000182372 OTTHUMG00000090343 uc003wpo.5 AF123761 NM_018941 CCDS5956 Q9UBY8 "10508524|23160995" MGI:1349447 RGD:1359518 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_691|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_691.xml" 607837 120648 HGNC:2079 "ENST00000331222.6|NM_018941.4" HGNC:2079 HGNC:55523 CLN8-AS1 CLN8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p23.3 08p23.3 Antisense RNAs 1987 2021-03-18 2021-03-18 101927752 ENSG00000253982 NR_134303 HGNC:17438 CLNK cytokine dependent hematopoietic cell linker protein-coding gene gene with protein product Approved 4p16.1 04p16.1 MIST mast cell immunoreceptor signal transducer SH2 domain containing 741 2008-11-20 2016-01-18 2023-01-20 116449 ENSG00000109684 OTTHUMG00000160062 uc003gmo.5 AB032369 NM_052964 CCDS47024 Q7Z7G1 "10562326|10744659" MGI:1351468 RGD:1562417 611434 HGNC:17438 "ENST00000226951.11|NM_052964.4" -HGNC:2080 CLNS1A chloride nucleotide-sensitive channel 1A protein-coding gene gene with protein product Approved 11q14.1 11q14.1 ICln methylosome subunit pICln CLCI chloride channel, nucleotide-sensitive, 1A 1997-10-16 2016-02-05 2023-01-20 1207 ENSG00000074201 OTTHUMG00000165143 uc001oyk.4 U17899 NM_001293 "CCDS81602|CCDS81601|CCDS81600|CCDS8252" P54105 "7887970|8975725" MGI:109638 RGD:61884 602158 HGNC:2080 "ENST00000525428.6|NM_001293.3" +HGNC:2080 CLNS1A chloride nucleotide-sensitive channel 1A protein-coding gene gene with protein product Approved 11q14.1 11q14.1 ICln methylosome subunit pICln CLCI chloride channel, nucleotide-sensitive, 1A 1997-10-16 2016-02-05 2023-01-20 1207 ENSG00000074201 OTTHUMG00000165143 uc001oyk.4 U17899 NM_001293 "CCDS81601|CCDS8252|CCDS81600|CCDS81602" P54105 "7887970|8975725" MGI:109638 RGD:61884 602158 HGNC:2080 "ENST00000525428.6|NM_001293.3" HGNC:2081 CLNS1AP1 chloride nucleotide-sensitive channel 1A pseudogene 1 pseudogene pseudogene Approved 6p12.1 06p12.1 ICln CLNS1B "chloride channel, nucleotide-sensitive, 1B|chloride channel, nucleotide-sensitive, 1A pseudogene 1" 1997-10-16 2010-12-17 2016-02-05 2016-10-05 1204 ENSG00000213335 OTTHUMG00000014894 NG_002905 "8975725|9524223" PGOHUM00000243207 HGNC:2081 HGNC:2082 CLOCK clock circadian regulator protein-coding gene gene with protein product Approved 4q12 04q12 "KIAA0334|KAT13D|bHLHe8" Circadian locomoter output cycles protein kaput "clock (mouse) homolog|clock homolog (mouse)" "Basic helix-loop-helix proteins|Lysine acetyltransferases|PAS domain containing" "420|486|2127" 1999-04-19 2012-12-07 2023-01-20 9575 ENSG00000134852 OTTHUMG00000102141 uc003hba.3 AF011568 NM_004898 CCDS3500 O15516 10198158 MGI:99698 RGD:620271 601851 objectId:2649 HGNC:2082 "ENST00000513440.6|NM_004898.4" -HGNC:16999 CLP1 cleavage factor polyribonucleotide kinase subunit 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "HEAB|hClp1" "ATP/GTPbinding protein|polyribonucleotide 5'-hydroxyl-kinase" "CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)|cleavage and polyadenylation factor I subunit 1" 2006-11-13 2019-10-03 2023-01-20 10978 ENSG00000172409 OTTHUMG00000167146 uc001nkw.4 BC000446 NM_006831 "CCDS7964|CCDS44600" Q92989 "8896421|11060040" MGI:2138968 RGD:1307679 608757 422996 2.7.1.78 HGNC:16999 "ENST00000533682.2|NM_006831.3" HGNC:16999 -HGNC:30664 CLPB ClpB family mitochondrial disaggregase protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "SKD3|FLJ13152|ANKCLP" "suppressor of potassium transport defect 3|ankyrin-repeat containing bacterial clp fusion" "ClpB caseinolytic peptidase B homolog (E. coli)|ClpB homolog, mitochondrial AAA ATPase chaperonin|caseinolytic mitochondrial matrix peptidase chaperone subunit B" "Ankyrin repeat domain containing|AAA ATPases|Chaperonins" "403|413|587" 2005-10-04 2023-03-02 2023-03-15 81570 ENSG00000162129 OTTHUMG00000167902 uc001osj.5 BC006404 NM_030813 "CCDS8215|CCDS58153|CCDS58154" Q9H078 "7835694|25650066|25710177" MGI:1100517 RGD:621328 LRG_1338|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1338.xml 616254 449270 HGNC:30664 "ENST00000538039.6|NM_001258392.3" HGNC:30664 +HGNC:16999 CLP1 cleavage factor polyribonucleotide kinase subunit 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "HEAB|hClp1" "ATP/GTPbinding protein|polyribonucleotide 5'-hydroxyl-kinase" "CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)|cleavage and polyadenylation factor I subunit 1" 2006-11-13 2019-10-03 2023-01-20 10978 ENSG00000172409 OTTHUMG00000167146 uc001nkw.4 BC000446 NM_006831 "CCDS44600|CCDS7964" Q92989 "8896421|11060040" MGI:2138968 RGD:1307679 608757 422996 2.7.1.78 HGNC:16999 "ENST00000533682.2|NM_006831.3" HGNC:16999 +HGNC:30664 CLPB ClpB family mitochondrial disaggregase protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "SKD3|FLJ13152|ANKCLP" "suppressor of potassium transport defect 3|ankyrin-repeat containing bacterial clp fusion" "ClpB caseinolytic peptidase B homolog (E. coli)|ClpB homolog, mitochondrial AAA ATPase chaperonin|caseinolytic mitochondrial matrix peptidase chaperone subunit B" "Ankyrin repeat domain containing|AAA ATPases|Chaperonins" "403|413|587" 2005-10-04 2023-03-02 2023-03-15 81570 ENSG00000162129 OTTHUMG00000167902 uc001osj.5 BC006404 NM_030813 "CCDS58153|CCDS58154|CCDS8215" Q9H078 "7835694|25650066|25710177" MGI:1100517 RGD:621328 LRG_1338|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1338.xml 616254 449270 HGNC:30664 "ENST00000538039.6|NM_001258392.3" HGNC:30664 HGNC:2084 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human "ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog|ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)|ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)" AAA ATPases 413 1999-09-20 2013-09-12 2023-01-20 8192 ENSG00000125656 OTTHUMG00000180779 uc002mem.2 Z50853 NM_006012 CCDS12162 Q16740 "8543061|23360988" MGI:1858213 RGD:1588583 LRG_1402|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1402.xml 601119 331967 S14.003 HGNC:2084 "ENST00000245816.11|NM_006012.4" HGNC:2084 -HGNC:2085 CLPS colipase protein-coding gene gene with protein product Approved 6p21.31 06p21.31 pancreatic colipase colipase, pancreatic 1990-10-05 2015-11-18 2023-01-20 1208 ENSG00000137392 OTTHUMG00000014578 uc003ole.3 NM_001832 "CCDS4811|CCDS75437|CCDS75438" P04118 2045105 MGI:88421 RGD:2363 120105 HGNC:2085 "ENST00000259938.7|NM_001832.4" +HGNC:2085 CLPS colipase protein-coding gene gene with protein product Approved 6p21.31 06p21.31 pancreatic colipase colipase, pancreatic 1990-10-05 2015-11-18 2023-01-20 1208 ENSG00000137392 OTTHUMG00000014578 uc003ole.3 NM_001832 "CCDS75438|CCDS75437|CCDS4811" P04118 2045105 MGI:88421 RGD:2363 120105 HGNC:2085 "ENST00000259938.7|NM_001832.4" HGNC:21251 CLPSL1 colipase like 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 dJ510O8.6 C6orf127 "chromosome 6 open reading frame 127|colipase-like 1" 2003-11-26 2012-02-06 2015-11-18 2023-01-20 340204 ENSG00000204140 OTTHUMG00000014582 uc003old.5 NM_001010886 CCDS43456 A2RUU4 HGNC:21251 "ENST00000373861.6|NM_001010886.5" -HGNC:21250 CLPSL2 colipase like 2 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "dJ510O8.5|UNQ3045" C6orf126 "chromosome 6 open reading frame 126|colipase-like 2" 2003-11-26 2012-02-06 2015-11-18 2023-01-20 389383 ENSG00000196748 OTTHUMG00000014581 uc010jvz.3 NM_207409 "CCDS69095|CCDS4810" Q6UWE3 MGI:2685595 RGD:1592336 HGNC:21250 "ENST00000403376.4|NM_207409.4" -HGNC:2087 CLPTM1 CLPTM1 regulator of GABA type A receptor forward trafficking protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "cleft lip and palate associated transmembrane protein 1|CLPTM1, transmembrane protein" 1998-04-06 2019-01-31 2023-01-20 1209 ENSG00000104853 OTTHUMG00000180849 uc002pai.5 AF037339 NM_001294 "CCDS12651|CCDS74394|CCDS74395" O96005 "9828125|29395912" MGI:1927155 RGD:1310959 604783 HGNC:2087 "ENST00000337392.10|NM_001294.4" +HGNC:21250 CLPSL2 colipase like 2 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "dJ510O8.5|UNQ3045" C6orf126 "chromosome 6 open reading frame 126|colipase-like 2" 2003-11-26 2012-02-06 2015-11-18 2023-01-20 389383 ENSG00000196748 OTTHUMG00000014581 uc010jvz.3 NM_207409 "CCDS4810|CCDS69095" Q6UWE3 MGI:2685595 RGD:1592336 HGNC:21250 "ENST00000403376.4|NM_207409.4" +HGNC:2087 CLPTM1 CLPTM1 regulator of GABA type A receptor forward trafficking protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "cleft lip and palate associated transmembrane protein 1|CLPTM1, transmembrane protein" 1998-04-06 2019-01-31 2023-01-20 1209 ENSG00000104853 OTTHUMG00000180849 uc002pai.5 AF037339 NM_001294 "CCDS74395|CCDS74394|CCDS12651" O96005 "9828125|29395912" MGI:1927155 RGD:1310959 604783 HGNC:2087 "ENST00000337392.10|NM_001294.4" HGNC:24308 CLPTM1L CLPTM1 like protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FLJ14400|CRR9" cisplatin resistance related protein CLPTM1-like 2006-08-09 2016-06-23 2023-01-20 81037 ENSG00000049656 OTTHUMG00000131015 uc003jch.4 AK027306 NM_030782 CCDS3862 Q96KA5 11162647 MGI:2442892 RGD:1307896 612585 HGNC:24308 "ENST00000320895.10|NM_030782.5" HGNC:49023 CLPTM1LP1 CLPTM1L pseudogene 1 pseudogene pseudogene Approved 1q31.1 01q31.1 2013-08-09 2013-08-09 106480241 ENSG00000271036 OTTHUMG00000184460 NG_043819 PGOHUM00000244375 HGNC:49023 HGNC:2088 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "ClpX (caseinolytic protease X, E. coli) homolog|ClpX caseinolytic protease X homolog (E. coli)" AAA ATPases 413 2000-03-14 2019-10-07 2023-01-20 10845 ENSG00000166855 OTTHUMG00000133139 uc002aom.4 AJ006267 NM_006660 CCDS10202 O76031 22841477 MGI:1346017 RGD:1304883 615611 HGNC:2088 "ENST00000300107.7|NM_006660.5" -HGNC:12605 CLRN1 clarin 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "USH3|USH3A|RP61" Usher syndrome 3A Clarins 1473 1998-10-23 2006-11-23 2006-11-23 2023-03-15 7401 ENSG00000163646 OTTHUMG00000140368 uc003eyk.1 AF388366 NM_001195794 "CCDS56285|CCDS3153|CCDS35492" P58418 "7711740|8975700" MGI:2388124 RGD:628779 "Mutations of the Usher Syndrome Type 3 Gene|http://www.retina-international.org/files/sci-news/ush3mut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=CLRN1|LRG_700|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_700.xml" 606397 120653 HGNC:12605 "ENST00000327047.6|NM_174878.3" HGNC:12605 +HGNC:12605 CLRN1 clarin 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "USH3|USH3A|RP61" Usher syndrome 3A Clarins 1473 1998-10-23 2006-11-23 2006-11-23 2023-03-15 7401 ENSG00000163646 OTTHUMG00000140368 uc003eyk.1 AF388366 NM_001195794 "CCDS56285|CCDS35492|CCDS3153" P58418 "7711740|8975700" MGI:2388124 RGD:628779 "Mutations of the Usher Syndrome Type 3 Gene|http://www.retina-international.org/files/sci-news/ush3mut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=CLRN1|LRG_700|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_700.xml" 606397 120653 HGNC:12605 "ENST00000327047.6|NM_174878.3" HGNC:12605 HGNC:30895 CLRN1-AS1 CLRN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 UCRP CLRN1OS "clarin 1 opposite strand|CLRN1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2007-01-05 2011-04-28 2012-08-15 2019-07-11 116933 ENSG00000239265 OTTHUMG00000159846 uc011bny.2 NR_024066 "11524702|31235696" CLRN1-AS1 HGNC:30895 HGNC:33939 CLRN2 clarin 2 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 DFNB117 Clarins 1473 2008-01-17 2023-01-20 645104 ENSG00000249581 OTTHUMG00000160273 uc003gpg.1 NM_001079827 CCDS47032 A0PK11 12080385 MGI:3646230 RGD:1591112 618988 HGNC:33939 "ENST00000511148.2|NM_001079827.2" HGNC:33939 HGNC:20795 CLRN3 clarin 3 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "MGC32871|USH3AL1" TMEM12 transmembrane protein 12 Clarins 1473 2005-10-04 2006-11-23 2006-11-23 2023-01-20 119467 ENSG00000180745 OTTHUMG00000019253 uc001lka.2 BC029478 NM_152311 CCDS7656 Q8NCR9 "12145752|12080385" MGI:2142022 RGD:1305043 620256 HGNC:20795 "ENST00000368671.4|NM_152311.5" -HGNC:19715 CLSPN claspin protein-coding gene gene with protein product Approved 1p34.3 01p34.3 claspin homolog (Xenopus laevis) 2002-11-15 2010-06-24 2023-01-20 63967 ENSG00000092853 OTTHUMG00000004168 uc001bzi.4 AF297866 NM_022111 "CCDS396|CCDS53297|CCDS81299" Q9HAW4 "11090622|12766152" MGI:2445153 RGD:1309083 605434 HGNC:19715 "ENST00000318121.8|NM_022111.4" +HGNC:19715 CLSPN claspin protein-coding gene gene with protein product Approved 1p34.3 01p34.3 claspin homolog (Xenopus laevis) 2002-11-15 2010-06-24 2023-01-20 63967 ENSG00000092853 OTTHUMG00000004168 uc001bzi.4 AF297866 NM_022111 "CCDS53297|CCDS396|CCDS81299" Q9HAW4 "11090622|12766152" MGI:2445153 RGD:1309083 605434 HGNC:19715 "ENST00000318121.8|NM_022111.4" HGNC:17447 CLSTN1 calsyntenin 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "CSTN1|KIAA0911|CDHR12" cadherin-related family member 12 Cadherin related 24 2002-05-01 2023-01-20 22883 ENSG00000171603 OTTHUMG00000001451 uc001aqi.4 AB020718 NM_001009566 "CCDS30580|CCDS105" O94985 10048485 MGI:1929895 RGD:1306458 611321 HGNC:17447 "ENST00000377298.9|NM_001009566.3" HGNC:17448 CLSTN2 calsyntenin 2 protein-coding gene gene with protein product Approved 3q23 03q23 "CSTN2|CS2|FLJ39113|CDHR13" cadherin-related family member 13 Cadherin related 24 2002-05-01 2023-01-20 64084 ENSG00000158258 OTTHUMG00000160139 uc003etn.4 AJ278018 NM_022131 CCDS3112 Q9H4D0 12498782 MGI:1929897 RGD:621151 611323 HGNC:17448 "ENST00000458420.7|NM_022131.3" HGNC:49095 CLSTN2-AS1 CLSTN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 Antisense RNAs 1987 2013-09-02 2013-09-02 101927808 ENSG00000250433 OTTHUMG00000160140 AL133103 NR_108084 CLSTN2-AS1 HGNC:49095 HGNC:18371 CLSTN3 calsyntenin 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CSTN3|KIAA0726|CDHR14" cadherin-related family member 14 Cadherin related 24 2002-05-01 2023-04-14 9746 ENSG00000139182 OTTHUMG00000168167 uc001qsr.4 AB018269 NM_014718 CCDS8575 Q9BQT9 "12498782|36477540" MGI:2178323 RGD:621153 611324 HGNC:18371 "ENST00000266546.11|NM_014718.4" -HGNC:2090 CLTA clathrin light chain A protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Lca "clathrin, light polypeptide (Lca)|clathrin, light chain A" Clathrin subunits 1647 1991-08-08 2016-01-18 2023-01-20 1211 ENSG00000122705 OTTHUMG00000019896 uc064tak.1 NM_007096 "CCDS6600|CCDS43802|CCDS55307|CCDS83364|CCDS55306|CCDS6601" P09496 7713494 MGI:894297 RGD:70919 118960 HGNC:2090 "ENST00000345519.10|NM_001833.4" -HGNC:2091 CLTB clathrin light chain B protein-coding gene gene with protein product Approved 5q35.2 05q35.2 Lcb "clathrin, light polypeptide (Lcb)|clathrin, light chain B" Clathrin subunits 1647 1990-10-16 2016-01-18 2023-01-20 1212 ENSG00000175416 OTTHUMG00000130662 uc003meh.4 M20470 NM_001364126 "CCDS4403|CCDS87350|CCDS4402" P09497 7713494 MGI:1921575 RGD:621353 118970 HGNC:2091 "ENST00000310418.9|NM_007097.5" +HGNC:2090 CLTA clathrin light chain A protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Lca "clathrin, light polypeptide (Lca)|clathrin, light chain A" Clathrin subunits 1647 1991-08-08 2016-01-18 2023-01-20 1211 ENSG00000122705 OTTHUMG00000019896 uc064tak.1 NM_007096 "CCDS6600|CCDS55307|CCDS55306|CCDS6601|CCDS43802|CCDS83364" P09496 7713494 MGI:894297 RGD:70919 118960 HGNC:2090 "ENST00000345519.10|NM_001833.4" +HGNC:2091 CLTB clathrin light chain B protein-coding gene gene with protein product Approved 5q35.2 05q35.2 Lcb "clathrin, light polypeptide (Lcb)|clathrin, light chain B" Clathrin subunits 1647 1990-10-16 2016-01-18 2023-01-20 1212 ENSG00000175416 OTTHUMG00000130662 uc003meh.4 M20470 NM_001364126 "CCDS87350|CCDS4403|CCDS4402" P09497 7713494 MGI:1921575 RGD:621353 118970 HGNC:2091 "ENST00000310418.9|NM_007097.5" HGNC:2092 CLTC clathrin heavy chain protein-coding gene gene with protein product Approved 17q23.1 17q23.1 Hc CLTCL2 "clathrin, heavy polypeptide (Hc)|clathrin, heavy chain|clathrin, heavy polypeptide-like 2|clathrin, heavy chain (Hc)" Clathrin subunits 1647 1990-10-16 2016-01-18 2023-01-20 1213 ENSG00000141367 OTTHUMG00000134279 uc002ixq.2 X55878 NM_004859 "CCDS32696|CCDS74115" Q00610 "1765375|7584026" MGI:2388633 RGD:2364 CLTC 118955 326742 HGNC:2092 "ENST00000269122.8|NM_004859.4" HGNC:2092 -HGNC:2093 CLTCL1 clathrin heavy chain like 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "CLTD|CLH22|CHC22" CLTCL "clathrin, heavy polypeptide-like 1|clathrin, heavy chain-like 1" Clathrin subunits 1647 1995-09-08 2016-01-18 2023-01-20 8218 ENSG00000070371 OTTHUMG00000150109 uc032qgb.2 NM_007098 "CCDS46662|CCDS54497" P53675 "8844170|15133132" CLTCL1 601273 457570 HGNC:2093 "ENST00000427926.6|NM_007098.4" HGNC:2093 +HGNC:2093 CLTCL1 clathrin heavy chain like 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "CLTD|CLH22|CHC22" CLTCL "clathrin, heavy polypeptide-like 1|clathrin, heavy chain-like 1" Clathrin subunits 1647 1995-09-08 2016-01-18 2023-01-20 8218 ENSG00000070371 OTTHUMG00000150109 uc032qgb.2 NM_007098 "CCDS54497|CCDS46662" P53675 "8844170|15133132" CLTCL1 601273 457570 HGNC:2093 "ENST00000427926.6|NM_007098.4" HGNC:2093 HGNC:29437 CLTRN collectrin, amino acid transport regulator protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 NX17 collectrin TMEM27 transmembrane protein 27 2004-06-02 2017-12-11 2017-12-11 2023-01-20 57393 ENSG00000147003 OTTHUMG00000021181 uc004cxc.4 AF229179 NM_020665 CCDS14170 Q9HBJ8 11278314 MGI:1926234 RGD:708489 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TMEM27 300631 HGNC:29437 "ENST00000380342.4|NM_020665.6" HGNC:29437 HGNC:2095 CLU clusterin protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "SGP-2|SP-40|TRPM-2|KUB1|CLU1|CLU2" "complement lysis inhibitor|sulfated glycoprotein 2|testosterone-repressed prostate message 2|apolipoprotein J" "CLI|APOJ" clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J) "Complement system regulators and receptors|MicroRNA protein coding host genes" "1639|1691" 1990-07-26 2006-02-10 2023-03-15 1191 ENSG00000120885 OTTHUMG00000102114 uc003xfz.3 M64722 NM_001831 CCDS47832 P10909 1585460 MGI:88423 RGD:3907 185430 469954 objectId:3195 HGNC:2095 "ENST00000316403.15|NM_001831.4" HGNC:19009 CLUAP1 clusterin associated protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ13297|KIAA0643|FAP22|CFAP22|IFT38" "flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)|cilia and flagella associated protein 22" "Cilia and flagella associated|IFT-B2 complex" "1491|1981" 2004-09-16 2023-02-13 23059 ENSG00000103351 OTTHUMG00000177581 uc002cvk.3 BC017070 NM_024793 "CCDS81942|CCDS32381|CCDS45398" Q96AJ1 "15480429|19253336" MGI:1924029 RGD:1359189 616787 470104 HGNC:19009 "ENST00000576634.6|NM_015041.3" HGNC:19009 -HGNC:29094 CLUH clustered mitochondria homolog protein-coding gene gene with protein product Approved 17p13.3 17p13.3 CLU1 KIAA0664 "KIAA0664|clustered mitochondria (cluA/CLU1) homolog" MicroRNA protein coding host genes 1691 2005-12-19 2012-11-30 2016-06-21 2023-01-20 23277 ENSG00000132361 OTTHUMG00000177575 uc059zog.1 AB014564 NM_015229 "CCDS92221|CCDS92220" O75153 25349259 MGI:1921398 RGD:1307222 616184 470106 HGNC:29094 "ENST00000651024.2|NM_001366661.1" +HGNC:29094 CLUH clustered mitochondria homolog protein-coding gene gene with protein product Approved 17p13.3 17p13.3 CLU1 KIAA0664 "KIAA0664|clustered mitochondria (cluA/CLU1) homolog" MicroRNA protein coding host genes 1691 2005-12-19 2012-11-30 2016-06-21 2023-01-20 23277 ENSG00000132361 OTTHUMG00000177575 uc059zog.1 AB014564 NM_015229 "CCDS92220|CCDS92221" O75153 25349259 MGI:1921398 RGD:1307222 616184 470106 HGNC:29094 "ENST00000651024.2|NM_001366661.1" HGNC:38416 CLUHP1 clustered mitochondria homolog pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 KIAA0664L1 KIAA0664-like 1 KIAA0664P1 "KIAA0664 pseudogene 1|clustered mitochondria (cluA/CLU1) homolog pseudogene 1" 2010-05-05 2012-11-30 2016-06-27 2016-06-27 100418708 ENSG00000238191 OTTHUMG00000041625 NG_021913 PGOHUM00000305491 HGNC:38416 HGNC:38453 CLUHP2 clustered mitochondria homolog pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 KIAA0664L2 KIAA0664-like 2 KIAA0664P2 "KIAA0664 pseudogene 2|clustered mitochondria (cluA/CLU1) homolog pseudogene 2" 2010-05-05 2012-11-30 2016-06-27 2016-06-27 100418709 ENSG00000228945 OTTHUMG00000041967 NG_004636 PGOHUM00000305685 HGNC:38453 HGNC:28447 CLUHP3 clustered mitochondria homolog pseudogene 3 pseudogene pseudogene Approved 16p11.2 16p11.2 MGC3020 "C16orf67|KIAA0664P3|KIAA0664L3" "chromosome 16 open reading frame 67|KIAA0664 pseudogene 3|KIAA0664-like 3|clustered mitochondria (cluA/CLU1) homolog pseudogene 3" 2006-04-04 2012-11-30 2016-06-27 2020-04-20 100132341 ENSG00000131797 OTTHUMG00000132462 AK054698 NR_024034 Q96NS8 12477932 PGOHUM00000293785 HGNC:28447 @@ -4979,8 +4979,8 @@ HGNC:51806 CLUHP11 clustered mitochondria homolog pseudogene 11 pseudogene pseud HGNC:2096 CLUL1 clusterin like 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 retinal clusterin-like protein clusterin-like 1 (retinal) 2000-05-30 2015-12-01 2023-01-20 27098 ENSG00000079101 OTTHUMG00000178252 uc002kkp.4 D63813 NM_001289036 CCDS42405 Q15846 "10675623|14507903" RGD:1306852 616990 ligandId:10543 HGNC:2096 "ENST00000692774.1|NM_001393344.1" HGNC:23139 CLVS1 clavesin 1 protein-coding gene gene with protein product Approved 8q12.2-q12.3 08q12.2-q12.3 "MGC34646|CRALBPL|C6orf212L" RLBP1L1 retinaldehyde binding protein 1-like 1 2007-07-18 2009-10-14 2009-10-14 2023-01-20 157807 ENSG00000177182 OTTHUMG00000164334 uc003xuh.4 AY094971 NM_173519 CCDS6176 Q8IUQ0 "16802092|19651769" MGI:1921688 RGD:1564200 611292 HGNC:23139 "ENST00000325897.5|NM_173519.3" HGNC:23046 CLVS2 clavesin 2 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 bA160A10.4 "C6orf212|C6orf213|RLBP1L2" "chromosome 6 open reading frame 212|chromosome 6 open reading frame 213|retinaldehyde binding protein 1-like 2" 2003-11-26 2009-10-14 2009-10-14 2023-01-20 134829 ENSG00000146352 OTTHUMG00000015495 uc003pzi.3 AK095527 NM_001010852 CCDS34525 Q5SYC1 19651769 MGI:2443223 RGD:1306801 616945 HGNC:23046 "ENST00000275162.10|NM_001010852.4" -HGNC:25678 CLXN calaxin protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "FLJ11767|ODAD5" outer dynein arm docking complex subunit 5 EFCAB1 EF-hand calcium binding domain 1 "EF-hand domain containing|Outer dynein arm docking complex subunits" "863|2019" 2005-07-25 2021-11-29 2021-11-29 2023-01-20 79645 ENSG00000034239 OTTHUMG00000164203 uc003xqo.3 NM_024593 "CCDS47853|CCDS6145" Q9HAE3 "31240264|34715025" MGI:1914043 RGD:1594548 619564 HGNC:25678 "ENST00000262103.8|NM_024593.4" -HGNC:18355 CLYBL citramalyl-CoA lyase protein-coding gene gene with protein product Approved 13q32.3 13q32.3 CLB citrate lyase beta like MicroRNA protein coding host genes 1691 2002-03-17 2020-03-10 2023-01-20 171425 ENSG00000125246 OTTHUMG00000017278 uc058xzt.1 AF428253 NM_001393355 "CCDS32002|CCDS91830" Q8N0X4 29056341 MGI:1916884 RGD:1304615 609686 4.1.3.25 HGNC:18355 "ENST00000339105.9|NM_206808.5" +HGNC:25678 CLXN calaxin protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "FLJ11767|ODAD5" outer dynein arm docking complex subunit 5 EFCAB1 EF-hand calcium binding domain 1 "EF-hand domain containing|Outer dynein arm docking complex subunits" "863|2019" 2005-07-25 2021-11-29 2021-11-29 2023-01-20 79645 ENSG00000034239 OTTHUMG00000164203 uc003xqo.3 NM_024593 "CCDS6145|CCDS47853" Q9HAE3 "31240264|34715025" MGI:1914043 RGD:1594548 619564 HGNC:25678 "ENST00000262103.8|NM_024593.4" +HGNC:18355 CLYBL citramalyl-CoA lyase protein-coding gene gene with protein product Approved 13q32.3 13q32.3 CLB citrate lyase beta like MicroRNA protein coding host genes 1691 2002-03-17 2020-03-10 2023-01-20 171425 ENSG00000125246 OTTHUMG00000017278 uc058xzt.1 AF428253 NM_001393355 "CCDS91830|CCDS32002" Q8N0X4 29056341 MGI:1916884 RGD:1304615 609686 4.1.3.25 HGNC:18355 "ENST00000339105.9|NM_206808.5" HGNC:39893 CLYBL-AS1 CLYBL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 CLYBL antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2020-04-20 101927465 ENSG00000234303 OTTHUMG00000017276 uc058xzv.1 NR_046525 CLYBL-AS1 HGNC:39893 HGNC:39894 CLYBL-AS2 CLYBL antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 CLYBL antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2022-01-31 100874063 ENSG00000227659 OTTHUMG00000017275 uc032anj.2 NR_046526 CLYBL-AS2 HGNC:39894 HGNC:56191 CLYBL-AS3 CLYBL antisense RNA 3 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 Antisense RNAs 1987 2022-01-31 2022-01-31 2022-01-31 2023-02-22 101927437 NR_120421 @@ -4991,27 +4991,27 @@ HGNC:25090 CMBL carboxymethylenebutenolidase homolog protein-coding gene gene wi HGNC:28783 CMC1 C-X9-C motif containing 1 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 MGC61571 C3orf68 "chromosome 3 open reading frame 68|COX assembly mitochondrial protein 1 homolog (S. cerevisiae)|C-x(9)-C motif containing 1" Mitochondrial respiratory chain complex assembly factors 645 2007-12-20 2008-06-20 2016-06-07 2023-01-20 152100 ENSG00000187118 OTTHUMG00000155660 uc003cea.4 BC052644 NM_182523 "CCDS87055|CCDS33722" Q7Z7K0 "18443040|28082314" MGI:1915149 RGD:1305283 615166 HGNC:28783 "ENST00000466830.6|NM_182523.2" HGNC:24447 CMC2 C-X9-C motif containing 2 protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "DC13|MGC45036" C16orf61 "chromosome 16 open reading frame 61|COX assembly mitochondrial protein 2 homolog (S. cerevisiae)|C-x(9)-C motif containing 2" Mitochondrial respiratory chain complex assembly factors 645 2006-02-20 2012-02-14 2016-06-07 2023-01-20 56942 ENSG00000103121 OTTHUMG00000137625 uc059xnh.1 BC032631 NM_020188 CCDS10930 Q9NRP2 20220131 MGI:1913781 RGD:2324599 HGNC:24447 "ENST00000219400.8|NM_020188.5" HGNC:35428 CMC4 C-X9-C motif containing 4 protein-coding gene gene with protein product Approved Xq28 Xq28 "P8MTCP1|p8" mature T-cell proliferation 1, isoform p8 "MTCP1|MTCP1NB" "mature T-cell proliferation 1 neighbor|C-x(9)-C motif containing 4 homolog (S. cerevisiae)|C-x(9)-C motif containing 4" 2008-12-12 2012-10-15 2016-06-07 2023-01-20 100272147 ENSG00000182712 OTTHUMG00000158504 uc004fmy.4 NM_001018024.2 CCDS14764 P56277 "8361760|9405159|20922212" MGI:5637812 RGD:7647017 301088 HGNC:35428 "ENST00000369484.8|NM_001018024.3" -HGNC:24319 CMIP c-Maf inducing protein protein-coding gene gene with protein product Approved 16q23.2-q23.3 16q23.2-q23.3 MicroRNA protein coding host genes 1691 2011-08-04 2023-01-20 80790 ENSG00000153815 OTTHUMG00000176520 uc002fgp.5 AB051481 NM_030629 "CCDS54044|CCDS54045" Q8IY22 "11214970|12939343" MGI:1921690 RGD:1306101 610112 HGNC:24319 "ENST00000537098.8|NM_198390.3" +HGNC:24319 CMIP c-Maf inducing protein protein-coding gene gene with protein product Approved 16q23.2-q23.3 16q23.2-q23.3 MicroRNA protein coding host genes 1691 2011-08-04 2023-01-20 80790 ENSG00000153815 OTTHUMG00000176520 uc002fgp.5 AB051481 NM_030629 "CCDS54045|CCDS54044" Q8IY22 "11214970|12939343" MGI:1921690 RGD:1306101 610112 HGNC:24319 "ENST00000537098.8|NM_198390.3" HGNC:2121 CMKLR1 chemerin chemokine-like receptor 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "RVER1|ERV1|ChemR23" "resolvin E1 receptor|chemerin receptor" chemokine-like receptor 1 Chemerin receptors 218 1995-11-22 2015-04-08 2023-02-07 1240 ENSG00000174600 OTTHUMG00000169576 uc001tmv.4 U79526 NM_001142343 "CCDS44965|CCDS41829" Q99788 "8976386|16904155|17339491" MGI:109603 RGD:69359 602351 objectId:79 HGNC:2121 "ENST00000550402.6|NM_001142343.2" HGNC:4463 CMKLR2 chemerin chemokine-like receptor 2 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 GPR1 G protein-coupled receptor 1 Chemerin receptors 218 1994-07-25 2021-04-23 2021-04-23 2023-01-20 2825 ENSG00000183671 OTTHUMG00000132894 uc031rqw.3 NM_001098199 CCDS2368 P46091 "7851889|29279348" MGI:2385324 RGD:2728 600239 objectId:82 HGNC:4463 "ENST00000621141.5|NM_001389445.1" HGNC:48602 CMKLR2-AS CMKLR2 antisense RNA non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 GPR1AS G protein-coupled receptor 1 antisense RNA "GPR1-AS1|GPR1-AS" "GPR1 antisense RNA 1|GPR1 antisense RNA" Antisense RNAs 1987 2013-05-24 2021-11-03 2021-11-03 2021-11-03 101669764 ENSG00000279220 OTTHUMG00000189431 AB774455 NR_104359 23764515 LRG_1105|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1105.xml 617636 HGNC:48602 -HGNC:18170 CMPK1 cytidine/uridine monophosphate kinase 1 protein-coding gene gene with protein product Approved 1p33 01p33 UMP-CMPK "UMP-CMP kinase|Cytidine monophosphate kinase|UMP/CMP kinase" CMPK "cytidylate kinase|cytidine monophosphate (UMP-CMP) kinase 1, cytosolic" 2005-05-10 2008-01-25 2016-01-18 2023-01-20 51727 ENSG00000162368 OTTHUMG00000007849 uc001cri.3 AF070416 NM_016308 "CCDS44135|CCDS90947|CCDS549" P30085 10462544 MGI:1913838 RGD:1310116 191710 2.7.4.14 HGNC:18170 "ENST00000371873.10|NM_016308.3" -HGNC:27015 CMPK2 cytidine/uridine monophosphate kinase 2 protein-coding gene gene with protein product Approved 2p25.2 02p25.2 "TYKi|UMP-CMPK2|NDK" "cytidylate kinase 2|UMP/CMP kinase|nucleoside-diphosphate kinase" cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 2008-01-25 2016-01-18 2023-01-20 129607 ENSG00000134326 OTTHUMG00000151629 uc002qyo.5 NM_207315 "CCDS42648|CCDS58695|CCDS58696" Q5EBM0 17999954 MGI:99830 RGD:1305881 611787 "2.7.4.14|2.7.4.6" HGNC:27015 "ENST00000256722.10|NM_207315.4" -HGNC:28666 CMSS1 cms1 ribosomal small subunit homolog protein-coding gene gene with protein product Approved 3q12.1 03q12.1 MGC4308 C3orf26 "chromosome 3 open reading frame 26|cms1 ribosomal small subunit homolog (yeast)" 2005-12-19 2012-09-20 2018-08-02 2023-01-20 84319 ENSG00000184220 OTTHUMG00000159054 uc003dtl.4 NM_032359 "CCDS54618|CCDS2935" Q9BQ75 12477932 MGI:1913747 RGD:1309437 HGNC:28666 "ENST00000421999.8|NM_032359.4" -HGNC:19172 CMTM1 CKLF like MARVEL transmembrane domain containing 1 protein-coding gene gene with protein product Approved 16q21 16q21 "CKLFH1a|CKLFH" CKLFSF1 "chemokine-like factor super family 1|chemokine-like factor superfamily 1|CKLF-like MARVEL transmembrane domain containing 1" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-03-15 113540 ENSG00000089505 OTTHUMG00000137502 uc002epr.5 AF278577 NM_052999 "CCDS54020|CCDS54019|CCDS10810|CCDS54021|CCDS10811|CCDS10812|CCDS45503|CCDS45504" Q8IZ96 12782130 MGI:2447159 RGD:1560130 607884 HGNC:19172 "ENST00000379500.7|NM_052999.4" -HGNC:19173 CMTM2 CKLF like MARVEL transmembrane domain containing 2 protein-coding gene gene with protein product Approved 16q21 16q21 "MGC39436|FLJ25732" CKLFSF2 "chemokine-like factor super family 2|chemokine-like factor superfamily 2|CKLF-like MARVEL transmembrane domain containing 2" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-01-20 146225 ENSG00000140932 OTTHUMG00000137501 uc002ept.4 BC025354 NM_001199317 "CCDS10814|CCDS56001" Q8TAZ6 "MGI:2447160|MGI:2447311" RGD:7687446 607885 HGNC:19173 "ENST00000268595.3|NM_144673.3" +HGNC:18170 CMPK1 cytidine/uridine monophosphate kinase 1 protein-coding gene gene with protein product Approved 1p33 01p33 UMP-CMPK "UMP-CMP kinase|Cytidine monophosphate kinase|UMP/CMP kinase" CMPK "cytidylate kinase|cytidine monophosphate (UMP-CMP) kinase 1, cytosolic" 2005-05-10 2008-01-25 2016-01-18 2023-01-20 51727 ENSG00000162368 OTTHUMG00000007849 uc001cri.3 AF070416 NM_016308 "CCDS90947|CCDS549|CCDS44135" P30085 10462544 MGI:1913838 RGD:1310116 191710 2.7.4.14 HGNC:18170 "ENST00000371873.10|NM_016308.3" +HGNC:27015 CMPK2 cytidine/uridine monophosphate kinase 2 protein-coding gene gene with protein product Approved 2p25.2 02p25.2 "TYKi|UMP-CMPK2|NDK" "cytidylate kinase 2|UMP/CMP kinase|nucleoside-diphosphate kinase" cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 2008-01-25 2016-01-18 2023-01-20 129607 ENSG00000134326 OTTHUMG00000151629 uc002qyo.5 NM_207315 "CCDS58696|CCDS58695|CCDS42648" Q5EBM0 17999954 MGI:99830 RGD:1305881 611787 "2.7.4.14|2.7.4.6" HGNC:27015 "ENST00000256722.10|NM_207315.4" +HGNC:28666 CMSS1 cms1 ribosomal small subunit homolog protein-coding gene gene with protein product Approved 3q12.1 03q12.1 MGC4308 C3orf26 "chromosome 3 open reading frame 26|cms1 ribosomal small subunit homolog (yeast)" 2005-12-19 2012-09-20 2018-08-02 2023-01-20 84319 ENSG00000184220 OTTHUMG00000159054 uc003dtl.4 NM_032359 "CCDS2935|CCDS54618" Q9BQ75 12477932 MGI:1913747 RGD:1309437 HGNC:28666 "ENST00000421999.8|NM_032359.4" +HGNC:19172 CMTM1 CKLF like MARVEL transmembrane domain containing 1 protein-coding gene gene with protein product Approved 16q21 16q21 "CKLFH1a|CKLFH" CKLFSF1 "chemokine-like factor super family 1|chemokine-like factor superfamily 1|CKLF-like MARVEL transmembrane domain containing 1" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-03-15 113540 ENSG00000089505 OTTHUMG00000137502 uc002epr.5 AF278577 NM_052999 "CCDS10812|CCDS54019|CCDS45504|CCDS10810|CCDS45503|CCDS54020|CCDS10811|CCDS54021" Q8IZ96 12782130 MGI:2447159 RGD:1560130 607884 HGNC:19172 "ENST00000379500.7|NM_052999.4" +HGNC:19173 CMTM2 CKLF like MARVEL transmembrane domain containing 2 protein-coding gene gene with protein product Approved 16q21 16q21 "MGC39436|FLJ25732" CKLFSF2 "chemokine-like factor super family 2|chemokine-like factor superfamily 2|CKLF-like MARVEL transmembrane domain containing 2" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-01-20 146225 ENSG00000140932 OTTHUMG00000137501 uc002ept.4 BC025354 NM_001199317 "CCDS56001|CCDS10814" Q8TAZ6 "MGI:2447160|MGI:2447311" RGD:7687446 607885 HGNC:19173 "ENST00000268595.3|NM_144673.3" HGNC:19174 CMTM3 CKLF like MARVEL transmembrane domain containing 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ31762|BNAS2" CKLFSF3 "chemokine-like factor superfamily 3|CKLF-like MARVEL transmembrane domain containing 3" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-03-15 123920 ENSG00000140931 OTTHUMG00000137503 uc002epu.5 AK056324 NM_144601 CCDS10815 Q96MX0 15087455 MGI:2447162 RGD:1308763 607886 HGNC:19174 "ENST00000567572.6|NM_181553.4" HGNC:19175 CMTM4 CKLF like MARVEL transmembrane domain containing 4 protein-coding gene gene with protein product Approved 16q22.1-q22.3 16q22.1-q22.3 CKLFSF4 "chemokine-like factor super family 4|chemokine-like factor superfamily 4|CKLF-like MARVEL transmembrane domain containing 4" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-01-20 146223 ENSG00000183723 OTTHUMG00000137500 uc002eqa.4 AF479814 NM_178818 "CCDS42170|CCDS10817" Q8IZR5 12782130 MGI:2142888 RGD:1565098 607887 HGNC:19175 "ENST00000394106.7|NM_181521.3" -HGNC:19176 CMTM5 CKLF like MARVEL transmembrane domain containing 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ37521 CKLFSF5 "chemokine-like factor super family 5|chemokine-like factor superfamily 5|CKLF-like MARVEL transmembrane domain containing 5" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-03-15 116173 ENSG00000166091 OTTHUMG00000028751 uc001wjs.3 BC013109 NM_001037288 "CCDS73619|CCDS32050|CCDS9598|CCDS73618|CCDS73617" Q96DZ9 MGI:2447164 RGD:1307045 607888 HGNC:19176 "ENST00000339180.9|NM_001288746.2" +HGNC:19176 CMTM5 CKLF like MARVEL transmembrane domain containing 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ37521 CKLFSF5 "chemokine-like factor super family 5|chemokine-like factor superfamily 5|CKLF-like MARVEL transmembrane domain containing 5" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-03-15 116173 ENSG00000166091 OTTHUMG00000028751 uc001wjs.3 BC013109 NM_001037288 "CCDS9598|CCDS32050|CCDS73618|CCDS73617|CCDS73619" Q96DZ9 MGI:2447164 RGD:1307045 607888 HGNC:19176 "ENST00000339180.9|NM_001288746.2" HGNC:19177 CMTM6 CKLF like MARVEL transmembrane domain containing 6 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 FLJ20396 CKLFSF6 "chemokine-like factor super family 6|chemokine-like factor superfamily 6|CKLF-like MARVEL transmembrane domain containing 6" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-01-20 54918 ENSG00000091317 OTTHUMG00000130747 uc003cfa.2 AK000403 NM_017801 CCDS2653 Q9NX76 MGI:2447165 RGD:1307765 607889 HGNC:19177 "ENST00000205636.4|NM_017801.3" HGNC:19178 CMTM7 CKLF like MARVEL transmembrane domain containing 7 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 FLJ30992 CKLFSF7 "chemokine-like factor super family 7|chemokine-like factor superfamily 7|CKLF-like MARVEL transmembrane domain containing 7" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-01-20 112616 ENSG00000153551 OTTHUMG00000155869 uc003cey.2 AF479263 NM_138410 "CCDS33730|CCDS33731" Q96FZ5 MGI:2447166 RGD:1591926 607890 HGNC:19178 "ENST00000334983.10|NM_138410.4" -HGNC:19179 CMTM8 CKLF like MARVEL transmembrane domain containing 8 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 CKLFSF8 "chemokine-like factor super family 8|chemokine-like factor superfamily 8|CKLF-like MARVEL transmembrane domain containing 8" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-01-20 152189 ENSG00000170293 OTTHUMG00000130753 uc003cex.4 AF474370 NM_178868 "CCDS82753|CCDS2652" Q8IZV2 MGI:2447167 RGD:735040 607891 HGNC:19179 "ENST00000307526.4|NM_178868.5" +HGNC:19179 CMTM8 CKLF like MARVEL transmembrane domain containing 8 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 CKLFSF8 "chemokine-like factor super family 8|chemokine-like factor superfamily 8|CKLF-like MARVEL transmembrane domain containing 8" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2023-01-20 152189 ENSG00000170293 OTTHUMG00000130753 uc003cex.4 AF474370 NM_178868 "CCDS2652|CCDS82753" Q8IZV2 MGI:2447167 RGD:735040 607891 HGNC:19179 "ENST00000307526.4|NM_178868.5" HGNC:21077 CMTR1 cap methyltransferase 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "MTr1|ISG95" "KIAA0082|FTSJD2" "KIAA0082|FtsJ methyltransferase domain containing 2" "G-patch domain containing|7BS 2'O-ribose DNA/RNA methyltransferases" "579|2062" 2003-11-21 2013-07-23 2013-07-23 2023-01-20 23070 ENSG00000137200 OTTHUMG00000014624 BC031890 NM_015050 CCDS4835 Q8N1G2 20713356 MGI:1921407 RGD:1307801 616189 2.1.1.57 HGNC:21077 "ENST00000373451.9|NM_015050.3" HGNC:25635 CMTR2 cap methyltransferase 2 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "FLJ11171|AFT|MTr2" adrift homolog (Drosophila) FTSJD1 FtsJ methyltransferase domain containing 1 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2008-07-25 2013-07-23 2013-07-23 2023-01-20 55783 ENSG00000180917 OTTHUMG00000137587 BC035005 NM_018348 CCDS10898 Q8IYT2 21310715 MGI:2384580 RGD:1309394 616190 HGNC:25635 "ENST00000434935.7|NM_018348.6" HGNC:14305 CMYA5 cardiomyopathy associated 5 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "SPRYD2|DKFZp451G223|TRIM76" "genethonin-3|tripartite motif-containing 76|myospryn" C5orf10 chromosome 5 open reading frame 10 "Tripartite motif family|A-kinase anchoring proteins|Fibronectin type III domain containing" "59|396|555" 2002-03-25 2023-01-20 202333 ENSG00000164309 OTTHUMG00000162548 uc003kgc.4 "AW755254|AL831986" NM_153610 CCDS47238 Q8N3K9 "14688250|21427212" MGI:1923719 RGD:1582992 612193 HGNC:14305 "ENST00000446378.3|NM_153610.5" HGNC:26663 CNBD1 cyclic nucleotide binding domain containing 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 FLJ35802 2005-07-27 2023-01-20 168975 ENSG00000176571 OTTHUMG00000163743 uc003ydy.3 AK093121 NM_173538 CCDS55259 Q8NA66 MGI:3650508 RGD:1592300 HGNC:26663 "ENST00000518476.6|NM_173538.3" -HGNC:16145 CNBD2 cyclic nucleotide binding domain containing 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ954P9.1 "C20orf152|CNMPD1" "chromosome 20 open reading frame 152|cyclic nucleotide (cNMP) binding domain containing 1" 2001-07-17 2012-11-15 2012-11-15 2023-01-20 140894 ENSG00000149646 OTTHUMG00000032371 uc002xer.1 AL359828 NM_080834 "CCDS93033|CCDS13270|CCDS56189|CCDS77575" Q96M20 11780052 MGI:1918123 RGD:1311678 HGNC:16145 "ENST00000373973.7|NM_001365709.1" -HGNC:13164 CNBP CCHC-type zinc finger nucleic acid binding protein protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "RNF163|ZCCHC22|CNBP1" "DM2|ZNF9" "zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)|zinc finger protein 9|CCHC-type zinc finger, nucleic acid binding protein" Zinc fingers CCHC-type 74 1989-12-11 2006-06-29 2016-04-04 2023-01-20 7555 ENSG00000169714 OTTHUMG00000159943 uc003elq.5 U19765 NM_003418 "CCDS46907|CCDS54637|CCDS46908|CCDS46906|CCDS3056" P62633 "2249857|11486088" MGI:88431 RGD:621807 CNBP 116955 120657 HGNC:13164 "ENST00000422453.7|NM_003418.5" HGNC:13164 +HGNC:16145 CNBD2 cyclic nucleotide binding domain containing 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ954P9.1 "C20orf152|CNMPD1" "chromosome 20 open reading frame 152|cyclic nucleotide (cNMP) binding domain containing 1" 2001-07-17 2012-11-15 2012-11-15 2023-01-20 140894 ENSG00000149646 OTTHUMG00000032371 uc002xer.1 AL359828 NM_080834 "CCDS56189|CCDS13270|CCDS93033|CCDS77575" Q96M20 11780052 MGI:1918123 RGD:1311678 HGNC:16145 "ENST00000373973.7|NM_001365709.1" +HGNC:13164 CNBP CCHC-type zinc finger nucleic acid binding protein protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "RNF163|ZCCHC22|CNBP1" "DM2|ZNF9" "zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)|zinc finger protein 9|CCHC-type zinc finger, nucleic acid binding protein" Zinc fingers CCHC-type 74 1989-12-11 2006-06-29 2016-04-04 2023-01-20 7555 ENSG00000169714 OTTHUMG00000159943 uc003elq.5 U19765 NM_003418 "CCDS3056|CCDS46908|CCDS46906|CCDS54637|CCDS46907" P62633 "2249857|11486088" MGI:88431 RGD:621807 CNBP 116955 120657 HGNC:13164 "ENST00000422453.7|NM_003418.5" HGNC:13164 HGNC:20675 CNDP1 carnosine dipeptidase 1 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "MGC10825|CN1|CPGL2|HsT2308" "carnosinase 1|glutamate carboxypeptidase-like protein 2|beta-Ala-His dipeptidase" carnosine dipeptidase 1 (metallopeptidase M20 family) M20 metallopeptidases 1443 2004-04-14 2016-05-20 2023-01-20 84735 ENSG00000150656 OTTHUMG00000132852 uc002llq.5 NM_032649 CCDS12007 Q96KN2 12473676 MGI:2451097 RGD:1359493 609064 M20.006 objectId:1603 3.4.13.20 HGNC:20675 "ENST00000358821.8|NM_032649.6" HGNC:24437 CNDP2 carnosine dipeptidase 2 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "FLJ10830|CN2|HsT2298|CPGL" "cytosolic nonspecific dipeptidase|carnosine dipeptidase II|carnosinase-2" PEPA "peptidase A|CNDP dipeptidase 2 (metallopeptidase M20 family)" M20 metallopeptidases 1443 2004-04-14 2017-03-23 2023-01-20 55748 ENSG00000133313 OTTHUMG00000132853 uc002llm.3 AK001692 NM_018235 "CCDS12006|CCDS54190" Q96KP4 12473676 MGI:1913304 RGD:1305827 169800 objectId:1604 3.4.13.18 HGNC:24437 "ENST00000324262.9|NM_018235.3" HGNC:26759 CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "FLJ38101|NEP1-R1" nuclear envelope phosphatase 1-regulatory subunit 1 "C16orf69|TMEM188" "chromosome 16 open reading frame 69|transmembrane protein 188" 2006-04-07 2012-02-01 2012-02-01 2023-01-20 255919 ENSG00000205423 OTTHUMG00000173447 uc002efu.5 AK095420 NM_153261 "CCDS45480|CCDS61931" Q8N9A8 22134922 MGI:1921981 RGD:1308816 616869 HGNC:26759 "ENST00000427478.7|NM_001281789.2" @@ -5019,22 +5019,22 @@ HGNC:55037 CNEP1R1P1 CNEP1R1 pseudogene 1 pseudogene pseudogene Approved Xq22.2 HGNC:30183 CNFN cornifelin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 PLAC8L2 2004-07-23 2023-01-20 84518 ENSG00000105427 OTTHUMG00000182813 uc002otp.5 AB049591 NM_032488 CCDS12606 Q9BYD5 MGI:1919633 RGD:1563577 611764 HGNC:30183 "ENST00000222032.10|NM_032488.4" HGNC:2148 CNGA1 cyclic nucleotide gated channel subunit alpha 1 protein-coding gene gene with protein product Approved 4p12 04p12 "RCNC1|RCNCa|CNG1|RP49" cGMP-gated cation channel alpha-1 "CNCG1|CNCG" cyclic nucleotide gated channel alpha 1 Cyclic nucleotide gated channels 250 2001-06-22 2019-06-18 2023-01-20 1259 ENSG00000198515 OTTHUMG00000160668 uc062wkc.1 M84741 NM_000087 CCDS43226 P29973 "7683629|16382102" MGI:88436 RGD:621815 Mutations of the Cyclic Nucleotide-gated Cation Channel|http://www.retina-international.org/files/sci-news/cnga1mut.htm 123825 120664 objectId:394 HGNC:2148 "ENST00000514170.7|NM_001379270.1" HGNC:2148 HGNC:2149 CNGA2 cyclic nucleotide gated channel subunit alpha 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "CNG2|OCNC1|OCNCa|OCNCALPHA|OCNCalpha|FLJ46312" "CNCA1|CNCA" cyclic nucleotide gated channel alpha 2 Cyclic nucleotide gated channels 250 1991-06-05 2019-06-18 2023-01-20 1260 ENSG00000183862 OTTHUMG00000024173 uc065bqd.1 S76067 NM_005140 CCDS14701 Q16280 "7532814|16382102" MGI:108040 RGD:2367 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CNGA2 300338 441279 objectId:395 HGNC:2149 "ENST00000329903.5|NM_005140.3" HGNC:2149 -HGNC:2150 CNGA3 cyclic nucleotide gated channel subunit alpha 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "CCNC1|CCNCa|CNG3" "CNCG3|ACHM2" cyclic nucleotide gated channel alpha 3 Cyclic nucleotide gated channels 250 1994-12-20 2019-06-18 2023-01-20 1261 ENSG00000144191 OTTHUMG00000130561 uc002syt.4 S76069 NM_001298 "CCDS2034|CCDS42719" Q16281 "7532814|9517456|16382102" MGI:1341818 RGD:70948 Mutations of the Cone Cyclic Nucleotide-gated Cation Channel|http://www.retina-international.org/files/sci-news/cnga3mut.htm 600053 120671 objectId:396 HGNC:2150 "ENST00000272602.7|NM_001298.3" HGNC:2150 +HGNC:2150 CNGA3 cyclic nucleotide gated channel subunit alpha 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "CCNC1|CCNCa|CNG3" "CNCG3|ACHM2" cyclic nucleotide gated channel alpha 3 Cyclic nucleotide gated channels 250 1994-12-20 2019-06-18 2023-01-20 1261 ENSG00000144191 OTTHUMG00000130561 uc002syt.4 S76069 NM_001298 "CCDS42719|CCDS2034" Q16281 "7532814|9517456|16382102" MGI:1341818 RGD:70948 Mutations of the Cone Cyclic Nucleotide-gated Cation Channel|http://www.retina-international.org/files/sci-news/cnga3mut.htm 600053 120671 objectId:396 HGNC:2150 "ENST00000272602.7|NM_001298.3" HGNC:2150 HGNC:2152 CNGA4 cyclic nucleotide gated channel subunit alpha 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "OCNC2|OCNCb|CNG5" "CNCA2|CNGB2" "cyclic nucleotide gated channel beta 2|cyclic nucleotide gated channel alpha 4" Cyclic nucleotide gated channels 250 1994-12-20 2002-01-18 2019-06-18 2023-01-20 1262 ENSG00000132259 OTTHUMG00000165379 uc001mco.4 AK122736 NM_001037329 CCDS31408 Q8IV77 "11764791|16382102" MGI:2664099 RGD:619844 609472 objectId:397 HGNC:2152 "ENST00000379936.3|NM_001037329.4" -HGNC:2151 CNGB1 cyclic nucleotide gated channel subunit beta 1 protein-coding gene gene with protein product Approved 16q21 16q21 "RCNC2|RCNCb|GARP|GAR1|CNGB1B|RP45" "glutamic acid-rich protein|cyclic nucleotide-gated cation channel beta-1" "CNCG2|CNCG3L" cyclic nucleotide gated channel beta 1 Cyclic nucleotide gated channels 250 1994-12-20 2019-06-18 2023-01-20 1258 ENSG00000070729 OTTHUMG00000154810 uc002emt.3 AF042498 NM_001297 "CCDS67042|CCDS42169|CCDS45495" Q14028 "8766832|7590744|16382102" MGI:2664102 RGD:621809 600724 159434 objectId:398 HGNC:2151 "ENST00000251102.13|NM_001297.5" HGNC:2151 +HGNC:2151 CNGB1 cyclic nucleotide gated channel subunit beta 1 protein-coding gene gene with protein product Approved 16q21 16q21 "RCNC2|RCNCb|GARP|GAR1|CNGB1B|RP45" "glutamic acid-rich protein|cyclic nucleotide-gated cation channel beta-1" "CNCG2|CNCG3L" cyclic nucleotide gated channel beta 1 Cyclic nucleotide gated channels 250 1994-12-20 2019-06-18 2023-01-20 1258 ENSG00000070729 OTTHUMG00000154810 uc002emt.3 AF042498 NM_001297 "CCDS67042|CCDS45495|CCDS42169" Q14028 "8766832|7590744|16382102" MGI:2664102 RGD:621809 600724 159434 objectId:398 HGNC:2151 "ENST00000251102.13|NM_001297.5" HGNC:2151 HGNC:2153 CNGB3 cyclic nucleotide gated channel subunit beta 3 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "ACHM3|ACHM1|RMCH" "achromatopsia (rod monochromacy) 3|achromatopsia (rod monochromacy) 1|cyclic nucleotide gated channel beta 3" Cyclic nucleotide gated channels 250 2000-07-12 2019-06-18 2023-01-20 54714 ENSG00000170289 OTTHUMG00000163738 uc003ydx.3 AF228520 NM_019098 CCDS6244 Q9NQW8 "10888875|10958649|16382102" MGI:1353562 RGD:1565364 605080 120678 objectId:399 HGNC:2153 "ENST00000320005.6|NM_019098.5" HGNC:2153 HGNC:19431 CNIH1 cornichon family AMPA receptor auxiliary protein 1 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "TGAM77|CNIL" CNIH cornichon homolog (Drosophila) 2002-11-28 2013-08-28 2013-08-28 2023-01-20 10175 ENSG00000100528 OTTHUMG00000152335 AF031379 NM_005776 CCDS9717 O95406 10209299 MGI:1277202 RGD:1312030 611287 HGNC:19431 "ENST00000216416.9|NM_005776.3" HGNC:28744 CNIH2 cornichon family AMPA receptor auxiliary protein 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "MGC50896|Cnil|CNIH-2" cornichon homolog 2 (Drosophila) 2004-11-15 2013-08-28 2023-01-20 254263 ENSG00000174871 OTTHUMG00000166919 uc001ohi.3 BC047953 NM_182553 CCDS8131 Q6PI25 24853943 MGI:1277225 RGD:1304930 611288 HGNC:28744 "ENST00000311445.7|NM_182553.3" HGNC:26802 CNIH3 cornichon family AMPA receptor auxiliary protein 3 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "FLJ38993|CNIH-3" cornichon homolog 3 (Drosophila) 2004-11-15 2013-08-28 2023-01-20 149111 ENSG00000143786 OTTHUMG00000037634 uc001hos.2 AF070524 NM_152495 CCDS1544 Q8TBE1 "8619474|9110174" MGI:1920228 RGD:1582859 HGNC:26802 "ENST00000272133.4|NM_152495.2" HGNC:41163 CNIH3-AS1 CNIH3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 Antisense RNAs 1987 2019-07-25 2019-07-25 105373106 ENSG00000229400 OTTHUMG00000037717 XR_001738492 HGNC:41163 HGNC:41162 CNIH3-AS2 CNIH3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 Antisense RNAs 1987 2019-07-25 2019-07-25 102723817 ENSG00000233384 OTTHUMG00000037718 NR_183286 HGNC:41162 -HGNC:25013 CNIH4 cornichon family AMPA receptor auxiliary protein 4 protein-coding gene gene with protein product Approved 1q42.11 01q42.11 HSPC163 cornichon homolog 4 (Drosophila) 2005-06-23 2013-08-28 2023-01-20 29097 ENSG00000143771 OTTHUMG00000037635 uc001hom.3 NM_014184 "CCDS60430|CCDS1543|CCDS60429" Q9P003 11042152 MGI:1925828 RGD:1559740 617483 HGNC:25013 "ENST00000465271.6|NM_014184.4" +HGNC:25013 CNIH4 cornichon family AMPA receptor auxiliary protein 4 protein-coding gene gene with protein product Approved 1q42.11 01q42.11 HSPC163 cornichon homolog 4 (Drosophila) 2005-06-23 2013-08-28 2023-01-20 29097 ENSG00000143771 OTTHUMG00000037635 uc001hom.3 NM_014184 "CCDS60430|CCDS60429|CCDS1543" Q9P003 11042152 MGI:1925828 RGD:1559740 617483 HGNC:25013 "ENST00000465271.6|NM_014184.4" HGNC:19700 CNKSR1 connector enhancer of kinase suppressor of Ras 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "CNK1|KSR|CNK" "Pleckstrin homology domain containing|Sterile alpha motif domain containing|PDZ domain containing" "682|760|1220" 2004-05-27 2023-01-20 10256 ENSG00000142675 OTTHUMG00000007541 uc001blm.5 AF100153 NM_006314 "CCDS276|CCDS72732|CCDS76124" Q969H4 9814705 MGI:2670958 RGD:1311879 603272 HGNC:19700 "ENST00000361530.11|NM_006314.3" HGNC:19700 -HGNC:19701 CNKSR2 connector enhancer of kinase suppressor of Ras 2 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "KIAA0902|CNK2|KSR2" "Pleckstrin homology domain containing|Sterile alpha motif domain containing|PDZ domain containing" "682|760|1220" 2004-05-27 2023-01-20 22866 ENSG00000149970 OTTHUMG00000021233 uc011mjo.3 AB020709 NM_014927 "CCDS55388|CCDS55387|CCDS14198|CCDS87730|CCDS87731|CCDS55389|CCDS87728|CCDS87729" Q8WXI2 MGI:2661175 RGD:708454 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CNKSR2 300724 449961 HGNC:19701 "ENST00000379510.5|NM_014927.5" HGNC:19701 +HGNC:19701 CNKSR2 connector enhancer of kinase suppressor of Ras 2 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "KIAA0902|CNK2|KSR2" "Pleckstrin homology domain containing|Sterile alpha motif domain containing|PDZ domain containing" "682|760|1220" 2004-05-27 2023-01-20 22866 ENSG00000149970 OTTHUMG00000021233 uc011mjo.3 AB020709 NM_014927 "CCDS87730|CCDS87731|CCDS14198|CCDS55389|CCDS55387|CCDS55388|CCDS87729|CCDS87728" Q8WXI2 MGI:2661175 RGD:708454 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CNKSR2 300724 449961 HGNC:19701 "ENST00000379510.5|NM_014927.5" HGNC:19701 HGNC:23034 CNKSR3 CNKSR family member 3 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 FLJ31349 MAGI1 membrane associated guanylate kinase interacting protein-like 1 "Sterile alpha motif domain containing|PDZ domain containing" "760|1220" 2003-11-26 2005-04-11 2005-04-11 2023-01-20 154043 ENSG00000153721 OTTHUMG00000015873 uc021zhc.2 AK055911 NM_173515 "CCDS94023|CCDS5246" Q6P9H4 MGI:2674130 RGD:1307544 617476 HGNC:23034 "ENST00000607772.6|NM_173515.4" HGNC:17005 CNMD chondromodulin protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "CHM-I|CHM1|BRICD3" BRICHOS domain containing 3 "MYETS1|LECT1" "multiple myeloma tumor suppressor 1|leukocyte cell derived chemotaxin 1" BRICHOS domain containing 457 2003-02-18 2016-10-20 2016-10-20 2023-01-20 11061 ENSG00000136110 OTTHUMG00000016980 uc001vhf.4 AB006000 NM_001011705 "CCDS45051|CCDS9437" O75829 "9731231|10103018" MGI:1341171 RGD:620176 605147 HGNC:17005 "ENST00000377962.8|NM_007015.3" HGNC:2155 CNN1 calponin 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "SMCC|Sm-Calp" calponin 1, basic, smooth muscle 1996-08-16 2016-01-19 2023-01-20 1264 ENSG00000130176 OTTHUMG00000182033 uc002msc.2 U37019 NM_001299 "CCDS12263|CCDS77238" P51911 "8526917|9332369" MGI:104979 RGD:621883 600806 HGNC:2155 "ENST00000252456.7|NM_001299.6" -HGNC:2156 CNN2 calponin 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 1996-08-16 2023-01-20 1265 ENSG00000064666 OTTHUMG00000172729 uc002lqu.4 D83735 NM_004368 "CCDS77205|CCDS12053|CCDS12054|CCDS77204" Q99439 8889829 MGI:105093 RGD:1589807 602373 HGNC:2156 "ENST00000263097.9|NM_004368.4" +HGNC:2156 CNN2 calponin 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 1996-08-16 2023-01-20 1265 ENSG00000064666 OTTHUMG00000172729 uc002lqu.4 D83735 NM_004368 "CCDS77204|CCDS77205|CCDS12053|CCDS12054" Q99439 8889829 MGI:105093 RGD:1589807 602373 HGNC:2156 "ENST00000263097.9|NM_004368.4" HGNC:39526 CNN2P1 calponin 2 pseudogene 1 pseudogene pseudogene Approved 22q12.2 22q12.2 2011-02-18 2011-02-18 646467 ENSG00000227201 OTTHUMG00000151269 NG_022869 PGOHUM00000246304 HGNC:39526 HGNC:39527 CNN2P2 calponin 2 pseudogene 2 pseudogene pseudogene Approved 9p11.2 09p11.2 2011-02-18 2016-10-05 642888 ENSG00000227069 OTTHUMG00000067498 NG_021614 PGOHUM00000236077 HGNC:39527 HGNC:39528 CNN2P3 calponin 2 pseudogene 3 pseudogene pseudogene Approved 9q13 09q13 2011-02-18 2016-10-05 392343 ENSG00000235832 OTTHUMG00000013328 NG_021622 PGOHUM00000236180 HGNC:39528 @@ -5046,10 +5046,10 @@ HGNC:39534 CNN2P9 calponin 2 pseudogene 9 pseudogene pseudogene Approved 6q21 06 HGNC:39535 CNN2P10 calponin 2 pseudogene 10 pseudogene pseudogene Approved 1q24.1 01q24.1 2011-02-18 2011-02-18 646693 ENSG00000232223 OTTHUMG00000034318 NG_022816 PGOHUM00000245068 HGNC:39535 HGNC:39536 CNN2P11 calponin 2 pseudogene 11 pseudogene pseudogene Approved 2q11.1 02q11.1 2011-02-18 2012-03-02 100689296 ENSG00000237383 OTTHUMG00000155140 NG_029997 PGOHUM00000240182 HGNC:39536 HGNC:39834 CNN2P12 calponin 2 pseudogene 12 pseudogene pseudogene Approved 13q11 13q11 2011-03-30 2012-10-16 100131550 ENSG00000204718 OTTHUMG00000016462 NG_021966 PGOHUM00000262204 HGNC:39834 -HGNC:2157 CNN3 calponin 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 calponin 3, acidic 1996-08-16 2016-01-19 2023-01-20 1266 ENSG00000117519 OTTHUMG00000010783 uc001dqz.6 BC025372 NM_001839 "CCDS65593|CCDS30775|CCDS65592" Q15417 8526917 MGI:1919244 RGD:71044 602374 HGNC:2157 "ENST00000370206.9|NM_001839.5" +HGNC:2157 CNN3 calponin 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 calponin 3, acidic 1996-08-16 2016-01-19 2023-01-20 1266 ENSG00000117519 OTTHUMG00000010783 uc001dqz.6 BC025372 NM_001839 "CCDS65592|CCDS65593|CCDS30775" Q15417 8526917 MGI:1919244 RGD:71044 602374 HGNC:2157 "ENST00000370206.9|NM_001839.5" HGNC:54176 CNN3-DT CNN3 divergent transcript non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Divergent transcripts 1990 2020-07-02 2020-07-02 729970 ENSG00000235501 NR_033998 HGNC:38666 CNN3P1 calponin 3 pseudogene 1 pseudogene pseudogene Approved 6p25.1 06p25.1 calponin 3, acidic pseudogene 1 2010-07-08 2016-01-19 2016-01-19 643875 ENSG00000218868 OTTHUMG00000014189 NG_022343 PGOHUM00000243479 HGNC:38666 -HGNC:102 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 ACDP1 cyclin M1 Cyclin and CBS domain divalent metal cation transport mediators 1801 1999-12-07 2014-08-07 2023-01-20 26507 ENSG00000119946 OTTHUMG00000018881 uc001kpp.6 AF169226 NM_020348 "CCDS7478|CCDS91317" Q9NRU3 21393841 MGI:1891366 RGD:1308728 607802 HGNC:102 "ENST00000356713.5|NM_020348.3" +HGNC:102 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 ACDP1 cyclin M1 Cyclin and CBS domain divalent metal cation transport mediators 1801 1999-12-07 2014-08-07 2023-01-20 26507 ENSG00000119946 OTTHUMG00000018881 uc001kpp.6 AF169226 NM_020348 "CCDS91317|CCDS7478" Q9NRU3 21393841 MGI:1891366 RGD:1308728 607802 HGNC:102 "ENST00000356713.5|NM_020348.3" HGNC:103 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 ACDP2 cyclin M2 Cyclin and CBS domain divalent metal cation transport mediators 1801 1999-12-07 2014-08-07 2023-01-20 54805 ENSG00000148842 OTTHUMG00000018976 uc001kwm.4 AF216962 NM_017649 "CCDS7543|CCDS44474|CCDS44475" Q9H8M5 "21393841|24699222" MGI:2151054 RGD:1308162 607803 311068 HGNC:103 "ENST00000369878.9|NM_017649.5" HGNC:103 HGNC:104 CNNM3 cyclin and CBS domain divalent metal cation transport mediator 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 ACDP3 cyclin M3 Cyclin and CBS domain divalent metal cation transport mediators 1801 1999-12-07 2014-08-07 2023-01-20 26505 ENSG00000168763 OTTHUMG00000130531 uc002swy.4 AF216965 NM_017623 "CCDS2026|CCDS2025" Q8NE01 "21393841|24632616" MGI:2151055 RGD:1307926 607804 HGNC:104 "ENST00000305510.4|NM_017623.5" HGNC:53592 CNNM3-DT CNNM3 divergent transcript non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 LOC100506036 Divergent transcripts 1990 2017-08-03 2017-08-03 2017-08-03 100506036 ENSG00000273265 OTTHUMG00000186027 NR_149141 26616293 HGNC:53592 @@ -5057,18 +5057,18 @@ HGNC:105 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 HGNC:7877 CNOT1 CCR4-NOT transcription complex subunit 1 protein-coding gene gene with protein product Approved 16q21 16q21 "CDC39|NOT1H|KIAA1007|AD-005" NOT1 CCR4-NOT transcription complex, subunit 1 "CCR4-NOT transcription complex|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes|MIF4G domain containing proteins" "1023|1492|1835|2128" 1996-07-19 2015-11-12 2023-01-20 23019 ENSG00000125107 OTTHUMG00000133487 uc002env.5 AL833549 NM_016284 "CCDS45501|CCDS58468|CCDS10799" A5YKK6 14702039 MGI:2442402 RGD:1308009 604917 HGNC:7877 "ENST00000317147.10|NM_016284.5" HGNC:7877 HGNC:7878 CNOT2 CCR4-NOT transcription complex subunit 2 protein-coding gene gene with protein product Approved 12q15 12q15 "CDC36|NOT2H" CC chemokine receptor 4-negative regulator of transcription 2 NOT2 CCR4-NOT transcription complex, subunit 2 CCR4-NOT transcription complex 1023 1996-07-19 2015-11-12 2023-01-20 4848 ENSG00000111596 OTTHUMG00000169481 uc001svv.4 AF180473 NM_001199302 CCDS31857 Q9NZN8 10637334 MGI:1919318 RGD:1311672 604909 HGNC:7878 "ENST00000229195.8|NM_014515.7" HGNC:7878 HGNC:7879 CNOT3 CCR4-NOT transcription complex subunit 3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "NOT3H|KIAA0691|LENG2" NOT3 (negative regulator of transcription 3, yeast) homolog NOT3 CCR4-NOT transcription complex, subunit 3 CCR4-NOT transcription complex 1023 1996-07-19 2015-11-12 2023-01-20 4849 ENSG00000088038 OTTHUMG00000066468 uc002qdj.3 AF180474 NM_014516 CCDS12880 O75175 "10637334|9734811" MGI:2385261 RGD:1304771 CNOT3 604910 352239 HGNC:7879 "ENST00000221232.11|NM_014516.4" HGNC:7879 -HGNC:7880 CNOT4 CCR4-NOT transcription complex subunit 4 protein-coding gene gene with protein product Approved 7q33 07q33 "CLONE243|NOT4H" NOT4 CCR4-NOT transcription complex, subunit 4 "Ring finger proteins|RNA binding motif containing|CCR4-NOT transcription complex" "58|725|1023" 1996-07-19 2015-11-12 2023-01-20 4850 ENSG00000080802 OTTHUMG00000155568 uc003vss.4 AF180475 NM_013316 "CCDS47719|CCDS55166|CCDS55167|CCDS55165|CCDS43650|CCDS55164" O95628 "10637334|18533727" MGI:1859026 RGD:1310318 604911 HGNC:7880 "ENST00000541284.6|NM_001190850.2" +HGNC:7880 CNOT4 CCR4-NOT transcription complex subunit 4 protein-coding gene gene with protein product Approved 7q33 07q33 "CLONE243|NOT4H" NOT4 CCR4-NOT transcription complex, subunit 4 "Ring finger proteins|RNA binding motif containing|CCR4-NOT transcription complex" "58|725|1023" 1996-07-19 2015-11-12 2023-01-20 4850 ENSG00000080802 OTTHUMG00000155568 uc003vss.4 AF180475 NM_013316 "CCDS55164|CCDS55166|CCDS43650|CCDS47719|CCDS55165|CCDS55167" O95628 "10637334|18533727" MGI:1859026 RGD:1310318 604911 HGNC:7880 "ENST00000541284.6|NM_001190850.2" HGNC:39272 CNOT4P1 CCR4-NOT transcription complex subunit 4 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 CCR4-NOT transcription complex, subunit 4 pseudogene 1 2010-11-24 2015-11-12 2015-11-12 100874389 ENSG00000236704 OTTHUMG00000016522 NG_032240 PGOHUM00000248317 HGNC:39272 HGNC:14099 CNOT6 CCR4-NOT transcription complex subunit 6 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "CCR4|KIAA1194|Ccr4a" CCR4-NOT transcription complex, subunit 6 CCR4-NOT transcription complex 1023 2001-03-30 2015-11-12 2023-01-20 57472 ENSG00000113300 OTTHUMG00000130935 uc010jld.4 AB033020 NM_015455 CCDS4455 Q9ULM6 11889047 MGI:2144529 RGD:1310783 608951 HGNC:14099 "ENST00000261951.9|NM_001370472.1" -HGNC:18042 CNOT6L CCR4-NOT transcription complex subunit 6 like protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "DKFZp434K098|Ccr4b" CCR4-NOT transcription complex, subunit 6-like CCR4-NOT transcription complex 1023 2002-05-23 2016-02-29 2023-03-15 246175 ENSG00000138767 OTTHUMG00000160832 uc011ccd.4 AL133112 NM_001286790 "CCDS93552|CCDS93553" Q96LI5 MGI:2443154 RGD:1309128 618069 HGNC:18042 "ENST00000504123.7|NM_144571.3" +HGNC:18042 CNOT6L CCR4-NOT transcription complex subunit 6 like protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "DKFZp434K098|Ccr4b" CCR4-NOT transcription complex, subunit 6-like CCR4-NOT transcription complex 1023 2002-05-23 2016-02-29 2023-03-15 246175 ENSG00000138767 OTTHUMG00000160832 uc011ccd.4 AL133112 NM_001286790 "CCDS93553|CCDS93552" Q96LI5 MGI:2443154 RGD:1309128 618069 HGNC:18042 "ENST00000504123.7|NM_144571.3" HGNC:32355 CNOT6LP1 CNOT6L pseudogene 1 pseudogene pseudogene Approved 15q21.3 15q21.3 CCR4-NOT transcription complex, subunit 6-like pseudogene 1 2006-01-17 2019-02-18 2019-02-18 729530 ENSG00000230183 OTTHUMG00000172614 AC039057 NG_009481 PGOHUM00000251182 HGNC:32355 -HGNC:14101 CNOT7 CCR4-NOT transcription complex subunit 7 protein-coding gene gene with protein product Approved 8p22 08p22 BTG1 binding factor 1 CAF1 CCR4-NOT transcription complex, subunit 7 CCR4-NOT transcription complex 1023 2000-12-01 2015-11-12 2023-01-20 29883 ENSG00000198791 OTTHUMG00000096971 uc003wxg.2 L46722 NM_013354 "CCDS6000|CCDS55202" Q9UIV1 "10637334|1538749|17264152" MGI:1298230 RGD:1305313 604913 HGNC:14101 "ENST00000361272.9|NM_013354.7" +HGNC:14101 CNOT7 CCR4-NOT transcription complex subunit 7 protein-coding gene gene with protein product Approved 8p22 08p22 BTG1 binding factor 1 CAF1 CCR4-NOT transcription complex, subunit 7 CCR4-NOT transcription complex 1023 2000-12-01 2015-11-12 2023-01-20 29883 ENSG00000198791 OTTHUMG00000096971 uc003wxg.2 L46722 NM_013354 "CCDS55202|CCDS6000" Q9UIV1 "10637334|1538749|17264152" MGI:1298230 RGD:1305313 604913 HGNC:14101 "ENST00000361272.9|NM_013354.7" HGNC:44248 CNOT7P1 CCR4-NOT transcription complex subunit 7 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 CCR4-NOT transcription complex, subunit 7 pseudogene 1 2012-07-25 2015-11-12 2015-11-12 100421338 ENSG00000233229 OTTHUMG00000021759 NG_026715 PGOHUM00000241370 HGNC:44248 HGNC:44249 CNOT7P2 CCR4-NOT transcription complex subunit 7 pseudogene 2 pseudogene pseudogene Approved 1p13.1 01p13.1 CCR4-NOT transcription complex, subunit 7 pseudogene 2 2012-07-25 2015-11-12 2015-11-12 100132332 ENSG00000232185 OTTHUMG00000011973 NG_030209 PGOHUM00000244864 HGNC:44249 -HGNC:9207 CNOT8 CCR4-NOT transcription complex subunit 8 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "CAF1|hCAF1|CALIF" PGK promoter directed over production POP2 CCR4-NOT transcription complex, subunit 8 CCR4-NOT transcription complex 1023 1998-09-25 2015-11-12 2023-01-20 9337 ENSG00000155508 OTTHUMG00000130192 uc003lvu.4 AF053318 NM_004779 "CCDS75361|CCDS4329|CCDS78075|CCDS78074" Q9UFF9 "10036195|10637334" MGI:1916375 RGD:1306401 603731 HGNC:9207 "ENST00000285896.11|NM_001301073.2" -HGNC:10445 CNOT9 CCR4-NOT transcription complex subunit 9 protein-coding gene gene with protein product Approved 2q35 02q35 "RCD1|RCD1+|CT129|CAF40" cancer/testis antigen 129 RQCD1 "rcd1 (required for cell differentiation, S.pombe) homolog 1|RCD1 required for cell differentiation1 homolog (S. pombe)" "CCR4-NOT transcription complex|Armadillo like helical domain containing" "1023|1492" 1999-11-22 2016-04-12 2016-04-12 2023-01-20 9125 ENSG00000144580 OTTHUMG00000154750 uc010zkh.4 D87957 NM_005444 "CCDS33379|CCDS63122|CCDS63123" Q92600 9447985 MGI:1928902 RGD:1311495 612054 HGNC:10445 "ENST00000273064.11|NM_005444.3" -HGNC:23817 CNOT10 CCR4-NOT transcription complex subunit 10 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "FLJ12890|FLJ13165" CCR4-NOT transcription complex, subunit 10 "Tetratricopeptide repeat domain containing|CCR4-NOT transcription complex" "769|1023" 2003-12-11 2015-11-12 2023-01-20 25904 ENSG00000182973 OTTHUMG00000130748 uc003cfc.2 BC002928 NM_015442 "CCDS58821|CCDS58822|CCDS2655" Q9H9A5 MGI:1926143 RGD:1359219 HGNC:23817 "ENST00000328834.10|NM_015442.3" -HGNC:41031 CNOT10-AS1 CNOT10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.3 03p22.3 CNOT10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874109 ENSG00000251224 OTTHUMG00000162550 uc062hvr.1 CNOT10-AS1 +HGNC:9207 CNOT8 CCR4-NOT transcription complex subunit 8 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "CAF1|hCAF1|CALIF" PGK promoter directed over production POP2 CCR4-NOT transcription complex, subunit 8 CCR4-NOT transcription complex 1023 1998-09-25 2015-11-12 2023-01-20 9337 ENSG00000155508 OTTHUMG00000130192 uc003lvu.4 AF053318 NM_004779 "CCDS78075|CCDS78074|CCDS4329|CCDS75361" Q9UFF9 "10036195|10637334" MGI:1916375 RGD:1306401 603731 HGNC:9207 "ENST00000285896.11|NM_001301073.2" +HGNC:10445 CNOT9 CCR4-NOT transcription complex subunit 9 protein-coding gene gene with protein product Approved 2q35 02q35 "RCD1|RCD1+|CT129|CAF40" cancer/testis antigen 129 RQCD1 "rcd1 (required for cell differentiation, S.pombe) homolog 1|RCD1 required for cell differentiation1 homolog (S. pombe)" "CCR4-NOT transcription complex|Armadillo like helical domain containing" "1023|1492" 1999-11-22 2016-04-12 2016-04-12 2023-01-20 9125 ENSG00000144580 OTTHUMG00000154750 uc010zkh.4 D87957 NM_005444 "CCDS63123|CCDS63122|CCDS33379" Q92600 9447985 MGI:1928902 RGD:1311495 612054 HGNC:10445 "ENST00000273064.11|NM_005444.3" +HGNC:23817 CNOT10 CCR4-NOT transcription complex subunit 10 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "FLJ12890|FLJ13165" CCR4-NOT transcription complex, subunit 10 "Tetratricopeptide repeat domain containing|CCR4-NOT transcription complex" "769|1023" 2003-12-11 2015-11-12 2023-01-20 25904 ENSG00000182973 OTTHUMG00000130748 uc003cfc.2 BC002928 NM_015442 "CCDS58822|CCDS58821|CCDS2655" Q9H9A5 MGI:1926143 RGD:1359219 HGNC:23817 "ENST00000328834.10|NM_015442.3" +HGNC:41031 CNOT10-AS1 CNOT10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.3 03p22.3 CNOT10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874109 ENSG00000251224 OTTHUMG00000162550 uc062hvr.1 NR_046718 CNOT10-AS1 HGNC:25217 CNOT11 CCR4-NOT transcription complex subunit 11 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 C40 C2orf29 "chromosome 2 open reading frame 29|CCR4-NOT transcription complex, subunit 11" CCR4-NOT transcription complex 1023 2004-05-10 2013-01-24 2015-11-12 2023-01-20 55571 ENSG00000158435 OTTHUMG00000130686 uc002taw.5 AF103798 NM_017546 CCDS2050 Q9UKZ1 "10497265|23232451|23303381" MGI:106580 RGD:1560909 HGNC:25217 "ENST00000289382.8|NM_017546.5" HGNC:2158 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase protein-coding gene gene with protein product Approved 17q21.2 17q21.2 1991-07-15 2023-01-20 1267 ENSG00000173786 OTTHUMG00000133502 uc002hyl.2 NM_001330216 "CCDS11414|CCDS82123" P09543 1322358 MGI:88437 RGD:2368 123830 3.1.4.37 HGNC:2158 "ENST00000393892.8|NM_033133.5" HGNC:2158 HGNC:25220 CNPPD1 cyclin Pas1/PHO80 domain containing 1 protein-coding gene gene with protein product Approved 2q35 02q35 CGI-57 C2orf24 chromosome 2 open reading frame 24 2004-04-29 2011-03-23 2011-03-23 2023-01-20 27013 ENSG00000115649 OTTHUMG00000133132 uc002vjv.4 AF070638 NM_015680 CCDS2433 Q9BV87 "8619474|9110174" MGI:1916421 RGD:735175 HGNC:25220 "ENST00000360507.10|NM_015680.6" @@ -5080,24 +5080,24 @@ HGNC:28631 CNPY4 canopy FGF signaling regulator 4 protein-coding gene gene with HGNC:2159 CNR1 cannabinoid receptor 1 protein-coding gene gene with protein product Approved 6q15 06q15 "CB1K5|CB-R|CB1|CANN6|CB1A" CNR cannabinoid receptor 1 (brain) Cannabinoid receptors 202 1991-05-15 2016-07-01 2023-01-20 1268 ENSG00000118432 OTTHUMG00000015184 uc003pmq.5 AF107262 NM_001160226 "CCDS5015|CCDS5016" P21554 MGI:104615 RGD:2369 114610 objectId:56 HGNC:2159 "ENST00000369501.3|NM_016083.6" HGNC:2160 CNR2 cannabinoid receptor 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CB2 cannabinoid receptor 2 (macrophage) Cannabinoid receptors 202 1994-01-10 2015-11-06 2023-01-20 1269 ENSG00000188822 OTTHUMG00000013892 uc001bif.4 X74328 NM_001841 CCDS245 P34972 MGI:104650 RGD:619713 605051 objectId:57 HGNC:2160 "ENST00000374472.5|NM_001841.3" HGNC:24546 CNRIP1 cannabinoid receptor interacting protein 1 protein-coding gene gene with protein product Approved 2p14 02p14 "DKFZP566K1924|CRIP1|CRIP1a|CRIP1b" C2orf32 chromosome 2 open reading frame 32 2004-06-01 2007-11-29 2007-11-29 2023-01-20 25927 ENSG00000119865 OTTHUMG00000129565 uc002sek.5 AL110235 NM_015463 "CCDS1886|CCDS46311" Q96F85 20590557 MGI:1917505 RGD:1308373 618538 HGNC:24546 "ENST00000263655.4|NM_015463.3" HGNC:24546 -HGNC:26486 CNST consortin, connexin sorting protein protein-coding gene gene with protein product Approved 1q44 01q44 "FLJ32001|PPP1R64" protein phosphatase 1, regulatory subunit 64 C1orf71 chromosome 1 open reading frame 71 Protein phosphatase 1 regulatory subunits 694 2005-05-18 2009-11-03 2009-11-03 2023-01-20 163882 ENSG00000162852 OTTHUMG00000040090 uc001ibp.4 AK056563 NM_152609 "CCDS1628|CCDS44343" Q6PJW8 19864490 MGI:2445141 RGD:1564833 613439 HGNC:26486 "ENST00000366513.9|NM_152609.3" +HGNC:26486 CNST consortin, connexin sorting protein protein-coding gene gene with protein product Approved 1q44 01q44 "FLJ32001|PPP1R64" protein phosphatase 1, regulatory subunit 64 C1orf71 chromosome 1 open reading frame 71 Protein phosphatase 1 regulatory subunits 694 2005-05-18 2009-11-03 2009-11-03 2023-01-20 163882 ENSG00000162852 OTTHUMG00000040090 uc001ibp.4 AK056563 NM_152609 "CCDS44343|CCDS1628" Q6PJW8 19864490 MGI:2445141 RGD:1564833 613439 HGNC:26486 "ENST00000366513.9|NM_152609.3" HGNC:26847 CNTD1 cyclin N-terminal domain containing 1 protein-coding gene gene with protein product Approved 17q21.2-q21.31 17q21.2-q21.31 FLJ40137 CNTD cyclin N-terminal domain containing 2005-12-16 2006-03-31 2006-03-31 2023-01-20 124817 ENSG00000176563 OTTHUMG00000180652 uc002ibm.5 AK097456 NM_173478 "CCDS11440|CCDS82131" Q8N815 24891606 MGI:1923965 RGD:1564542 618166 HGNC:26847 "ENST00000588408.6|NM_173478.3" HGNC:2169 CNTF ciliary neurotrophic factor protein-coding gene gene with protein product Approved 11q12.1 11q12.1 HCNTF Ciliary Neuronotrophic Factor Interleukin 6 type cytokine family 1264 1991-01-07 2023-01-20 1270 ENSG00000242689 OTTHUMG00000137476 uc001nna.5 BC068030 NM_000614 CCDS31554 P26441 "1840538|1714745" MGI:88439 RGD:2370 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 118945 ligandId:4897 HGNC:2169 "ENST00000361987.6|NM_000614.4" HGNC:2170 CNTFR ciliary neurotrophic factor receptor protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "Fibronectin type III domain containing|Immunoglobulin like domain containing" "555|594" 1992-09-22 2023-01-20 1271 ENSG00000122756 OTTHUMG00000019821 uc022bgg.2 M73238 NM_001207011 CCDS6558 P26992 1648265 MGI:99605 RGD:1303100 118946 objectId:1711 HGNC:2170 "ENST00000378980.8|NM_147164.3" HGNC:48712 CNTFR-AS1 CNTFR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p13.3 09p13.3 Antisense RNAs 1987 2013-06-07 2013-06-07 415056 ENSG00000237159 OTTHUMG00000000441 "BC038740|BC042806" NR_024369 CNTFR-AS1 HGNC:48712 HGNC:23432 CNTLN centlein protein-coding gene gene with protein product Approved 9p22.2 09p22.2 "FLJ20276|bA340N12.1|OTTHUMG00000019597" "C9orf101|C9orf39" "chromosome 9 open reading frame 101|chromosome 9 open reading frame 39|centlein, centrosomal protein" 2003-11-18 2008-02-08 2015-11-27 2023-01-20 54875 ENSG00000044459 OTTHUMG00000019599 uc003zmy.5 AK000283 NM_017738 "CCDS43789|CCDS47953" Q9NXG0 18086554 MGI:2443104 RGD:1308101 611870 HGNC:23432 "ENST00000380647.8|NM_017738.4" -HGNC:2171 CNTN1 contactin 1 protein-coding gene gene with protein product Approved 12q12 12q12 "F3|GP135" glycoprotein gP135 "I-set domain containing|Contactins" "593|1909" 1994-02-18 2023-01-20 1272 ENSG00000018236 OTTHUMG00000169362 uc001rmm.3 Z21488 NM_001843 "CCDS8738|CCDS8737|CCDS58225" Q12860 "7959734|8586965" MGI:105980 RGD:621300 600016 212878 ligandId:6617 HGNC:2171 "ENST00000551295.7|NM_001843.4" HGNC:2171 +HGNC:2171 CNTN1 contactin 1 protein-coding gene gene with protein product Approved 12q12 12q12 "F3|GP135" glycoprotein gP135 "I-set domain containing|Contactins" "593|1909" 1994-02-18 2023-01-20 1272 ENSG00000018236 OTTHUMG00000169362 uc001rmm.3 Z21488 NM_001843 "CCDS58225|CCDS8737|CCDS8738" Q12860 "7959734|8586965" MGI:105980 RGD:621300 600016 212878 ligandId:6617 HGNC:2171 "ENST00000551295.7|NM_001843.4" HGNC:2171 HGNC:2172 CNTN2 contactin 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "TAG-1|TAX1" "TAX|AXT" contactin 2 (axonal) "I-set domain containing|Contactins" "593|1909" 2000-05-26 2015-12-10 2023-01-20 6900 ENSG00000184144 OTTHUMG00000037105 uc001hbr.4 X67734 NM_005076 CCDS1449 Q02246 "8307567|8586965" MGI:104518 RGD:3821 190197 332465 HGNC:2172 "ENST00000331830.7|NM_005076.5" HGNC:2172 HGNC:2173 CNTN3 contactin 3 protein-coding gene gene with protein product Approved 3p12.3 03p12.3 BIG-1 PANG contactin 3 (plasmacytoma associated) "I-set domain containing|Contactins" "593|1909" 2000-05-26 2015-12-10 2023-01-20 5067 ENSG00000113805 OTTHUMG00000158813 uc003dpm.2 AB040929 NM_020872 CCDS33790 Q9P232 "8661054|8586965" MGI:99534 RGD:3253 601325 ligandId:6609 HGNC:2173 "ENST00000263665.7|NM_020872.3" -HGNC:2174 CNTN4 contactin 4 protein-coding gene gene with protein product Approved 3p26.3-p26.2 03p26.3-p26.2 BIG-2 "I-set domain containing|Contactins" "593|1909" 2000-05-26 2023-01-20 152330 ENSG00000144619 OTTHUMG00000119031 uc003bpc.4 AW665944 NM_001206955 "CCDS43041|CCDS2558" Q8IWV2 "8586965|12202991" MGI:1095737 RGD:621361 607280 166392 ligandId:6612 HGNC:2174 "ENST00000418658.6|NM_175607.3" HGNC:2174 +HGNC:2174 CNTN4 contactin 4 protein-coding gene gene with protein product Approved 3p26.3-p26.2 03p26.3-p26.2 BIG-2 "I-set domain containing|Contactins" "593|1909" 2000-05-26 2023-01-20 152330 ENSG00000144619 OTTHUMG00000119031 uc003bpc.4 AW665944 NM_001206955 "CCDS2558|CCDS43041" Q8IWV2 "8586965|12202991" MGI:1095737 RGD:621361 607280 166392 ligandId:6612 HGNC:2174 "ENST00000418658.6|NM_175607.3" HGNC:2174 HGNC:39985 CNTN4-AS1 CNTN4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p26.2 03p26.2 CNTN4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873975 ENSG00000237990 OTTHUMG00000154875 uc062gbx.1 NR_046554 CNTN4-AS1 HGNC:39985 HGNC:39986 CNTN4-AS2 CNTN4 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p26.3 03p26.3 CNTN4 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873976 ENSG00000227588 OTTHUMG00000156185 uc031rye.1 NR_046555 CNTN4-AS2 HGNC:39986 -HGNC:2175 CNTN5 contactin 5 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "NB-2|hNB-2" "I-set domain containing|Contactins" "593|1909" 2000-05-26 2023-01-20 53942 ENSG00000149972 OTTHUMG00000167579 uc001pga.4 AB013802 NM_014361 "CCDS53696|CCDS58168|CCDS53697" O94779 MGI:3042287 RGD:621302 607219 470108 ligandId:6613 HGNC:2175 "ENST00000524871.6|NM_014361.4" +HGNC:2175 CNTN5 contactin 5 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "NB-2|hNB-2" "I-set domain containing|Contactins" "593|1909" 2000-05-26 2023-01-20 53942 ENSG00000149972 OTTHUMG00000167579 uc001pga.4 AB013802 NM_014361 "CCDS53697|CCDS58168|CCDS53696" O94779 MGI:3042287 RGD:621302 607219 470108 ligandId:6613 HGNC:2175 "ENST00000524871.6|NM_014361.4" HGNC:2176 CNTN6 contactin 6 protein-coding gene gene with protein product Approved 3p26.3 03p26.3 NB-3 neural adhesion molecule "I-set domain containing|Contactins" "593|1909" 2000-05-26 2023-01-20 27255 ENSG00000134115 OTTHUMG00000119030 uc003boz.5 AB003592 NM_014461 CCDS2557 Q9UQ52 9486763 MGI:1858223 RGD:62008 607220 ligandId:6614 HGNC:2176 "ENST00000446702.7|NM_001289080.2" HGNC:2176 HGNC:8011 CNTNAP1 contactin associated protein 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "p190|Caspr|CNTNAP" neurexin 4 NRXN4 Contactin associated protein family 1969 1998-10-14 2023-01-20 8506 ENSG00000108797 OTTHUMG00000180643 uc002iay.4 U87223 NM_003632 CCDS11436 P78357 9118959 MGI:1858201 RGD:70902 602346 403662 HGNC:8011 "ENST00000264638.9|NM_003632.3" HGNC:8011 HGNC:13830 CNTNAP2 contactin associated protein 2 protein-coding gene gene with protein product Approved 7q35-q36.1 07q35-q36.1 "Caspr2|KIAA0868|NRXN4" contactin associated protein like 2 Contactin associated protein family 1969 2001-06-01 2019-10-09 2023-01-20 26047 ENSG00000174469 OTTHUMG00000152743 uc003weu.3 AF193613 NM_014141 CCDS5889 Q9UHC6 "10624965|10048485|27621318" MGI:1914047 RGD:1307076 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=CNTNAP2 604569 165932 HGNC:13830 "ENST00000361727.8|NM_014141.6" HGNC:13830 HGNC:40657 CNTNAP2-AS1 CNTNAP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q35 07q35 Antisense RNAs 1987 2019-07-25 2019-07-25 101928700 ENSG00000236795 OTTHUMG00000152744 NR_110829 HGNC:40657 -HGNC:13834 CNTNAP3 contactin associated protein family member 3 protein-coding gene gene with protein product Approved 9p12 09p12 "CASPR3|KIAA1714|FLJ14195|CNTNAP3A" cell recognition molecule CASPR3 contactin associated protein like 3 Contactin associated protein family 1969 2004-05-06 2019-10-09 2023-01-20 79937 ENSG00000106714 OTTHUMG00000019954 uc004abi.4 AF333769 NM_033655 "CCDS94411|CCDS6616" Q9BZ76 12093160 MGI:3588199 RGD:1563615 610517 HGNC:13834 "ENST00000297668.11|NM_033655.5" +HGNC:13834 CNTNAP3 contactin associated protein family member 3 protein-coding gene gene with protein product Approved 9p12 09p12 "CASPR3|KIAA1714|FLJ14195|CNTNAP3A" cell recognition molecule CASPR3 contactin associated protein like 3 Contactin associated protein family 1969 2004-05-06 2019-10-09 2023-01-20 79937 ENSG00000106714 OTTHUMG00000019954 uc004abi.4 AF333769 NM_033655 "CCDS6616|CCDS94411" Q9BZ76 12093160 MGI:3588199 RGD:1563615 610517 HGNC:13834 "ENST00000297668.11|NM_033655.5" HGNC:32035 CNTNAP3B contactin associated protein family member 3B protein-coding gene gene with protein product Approved 9p11.2 09p11.2 contactin associated protein like 3B Contactin associated protein family 1969 2005-08-23 2019-10-09 2023-01-20 728577 ENSG00000154529 OTTHUMG00000013174 uc004abq.3 BX538190 NM_001201380 CCDS75836 Q96NU0 15820314 MGI:3588199 HGNC:32035 "ENST00000377561.7|NM_001201380.3" HGNC:53878 CNTNAP3C contactin associated protein family member 3C protein-coding gene gene with protein product Approved 9q12 09q12 contactin associated protein like 3C Contactin associated protein family 1969 2018-05-08 2019-10-09 2019-10-09 100289279 ENSG00000283378 OTTHUMG00000191808 XM_011545672 MGI:3588199 HGNC:53878 HGNC:49591 CNTNAP3P1 CNTNAP3 pseudogene 1 pseudogene pseudogene Approved 9q13 09q13 contactin associated protein-like 3 pseudogene 1 2014-01-20 2019-02-18 2019-02-18 100420787 ENSG00000273509 OTTHUMG00000187791 NG_023920 PGOHUM00000304254 HGNC:49591 @@ -5109,104 +5109,104 @@ HGNC:49583 CNTNAP3P6 CNTNAP3 pseudogene 6 pseudogene pseudogene Approved 9p12 09 HGNC:49585 CNTNAP3P7 CNTNAP3 pseudogene 7 pseudogene pseudogene Approved 9p11.1 09p11.1 contactin associated protein-like 3 pseudogene 7 2014-01-20 2019-02-18 2021-07-20 100420777 ENSG00000287276 NG_023823 PGOHUM00000304222 HGNC:49585 HGNC:49586 CNTNAP3P8 CNTNAP3 pseudogene 8 pseudogene pseudogene Approved 9p11.1 09p11.1 contactin associated protein-like 3 pseudogene 8 2014-01-20 2019-02-18 2019-02-18 100420785 NG_023910 PGOHUM00000303837 HGNC:49586 HGNC:49587 CNTNAP3P9 CNTNAP3 pseudogene 9 pseudogene pseudogene Approved 9q21.11 09q21.11 contactin associated protein-like 3 pseudogene 9 2014-01-20 2019-02-18 2019-02-18 107403148 NG_046800 PGOHUM00000303918 HGNC:49587 -HGNC:18747 CNTNAP4 contactin associated protein family member 4 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "CASPR4|KIAA1763" contactin associated protein-like 4 Contactin associated protein family 1969 2004-05-10 2019-10-09 2023-01-20 85445 ENSG00000152910 OTTHUMG00000137617 uc032efc.1 AB051550 NM_033401 "CCDS82015|CCDS10924|CCDS73915" Q9C0A0 12093160 MGI:2183572 RGD:1306459 610518 HGNC:18747 "ENST00000611870.5|NM_033401.5" -HGNC:18748 CNTNAP5 contactin associated protein family member 5 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "caspr5|FLJ31966" contactin associated protein-like 5 Contactin associated protein family 1969 2004-05-10 2019-10-09 2023-01-20 129684 ENSG00000155052 OTTHUMG00000153356 uc002tno.5 AB077881 NM_001367498 "CCDS46401|CCDS92855" Q8WYK1 "MGI:3643623|MGI:3646013|MGI:3664583" RGD:1565194 610519 HGNC:18748 "ENST00000682447.1|NM_001367498.1" +HGNC:18747 CNTNAP4 contactin associated protein family member 4 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "CASPR4|KIAA1763" contactin associated protein-like 4 Contactin associated protein family 1969 2004-05-10 2019-10-09 2023-01-20 85445 ENSG00000152910 OTTHUMG00000137617 uc032efc.1 AB051550 NM_033401 "CCDS10924|CCDS82015|CCDS73915" Q9C0A0 12093160 MGI:2183572 RGD:1306459 610518 HGNC:18747 "ENST00000611870.5|NM_033401.5" +HGNC:18748 CNTNAP5 contactin associated protein family member 5 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "caspr5|FLJ31966" contactin associated protein-like 5 Contactin associated protein family 1969 2004-05-10 2019-10-09 2023-01-20 129684 ENSG00000155052 OTTHUMG00000153356 uc002tno.5 AB077881 NM_001367498 "CCDS92855|CCDS46401" Q8WYK1 "MGI:3643623|MGI:3646013|MGI:3664583" RGD:1565194 610519 HGNC:18748 "ENST00000682447.1|NM_001367498.1" HGNC:55794 CNTNAP5-DT CNTNAP5 divergent transcript non-coding RNA RNA, long non-coding Approved 2q14.3 02q14.3 Divergent transcripts 1990 2021-07-29 2021-07-29 107985820 ENSG00000228400 NR_147976 HGNC:1858 CNTRL centriolin protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "CEP1|CEP110" "centrosomal protein 1|centrosomal protein 110kDa" 2000-06-08 2011-05-23 2011-05-23 2023-01-20 11064 ENSG00000119397 OTTHUMG00000020581 uc064vkk.1 AF513978 NM_007018 "CCDS83409|CCDS94474|CCDS35118" Q7Z7A1 10688839 MGI:1889576 RGD:1305317 CNTRL 605496 HGNC:1858 "ENST00000373855.7|NM_007018.6" HGNC:29616 CNTROB centrobin, centriole duplication and spindle assembly protein protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "LIP8|PP1221" centrobin centrobin, centrosomal BRCA2 interacting protein 2006-01-13 2016-04-18 2023-01-20 116840 ENSG00000170037 OTTHUMG00000172932 uc060axf.1 AF331638 NM_053051 "CCDS82063|CCDS32557|CCDS11126" Q8N137 "11984006|16275750" MGI:2443290 RGD:1307488 611425 HGNC:29616 "ENST00000563694.6|NM_053051.5" -HGNC:21868 COA1 cytochrome c oxidase assembly factor 1 protein-coding gene gene with protein product Approved 7p13 07p13 "FLJ10803|MITRAC15" C7orf44 "chromosome 7 open reading frame 44|cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)|cytochrome c oxidase assembly factor 1 homolog" "Mitochondrial respiratory chain complex assembly factors|Mitochondrial complex I assembly complex" "645|1387" 2006-08-21 2012-06-25 2021-04-21 2023-01-20 55744 ENSG00000106603 OTTHUMG00000128949 uc064dcs.1 AK001665 NM_018224 "CCDS83177|CCDS5471" Q9GZY4 "22356826|32320651" 614769 HGNC:21868 "ENST00000223336.11|NM_018224.4" +HGNC:21868 COA1 cytochrome c oxidase assembly factor 1 protein-coding gene gene with protein product Approved 7p13 07p13 "FLJ10803|MITRAC15" C7orf44 "chromosome 7 open reading frame 44|cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)|cytochrome c oxidase assembly factor 1 homolog" "Mitochondrial respiratory chain complex assembly factors|Mitochondrial complex I assembly complex" "645|1387" 2006-08-21 2012-06-25 2021-04-21 2023-01-20 55744 ENSG00000106603 OTTHUMG00000128949 uc064dcs.1 AK001665 NM_018224 "CCDS5471|CCDS83177" Q9GZY4 "22356826|32320651" 614769 HGNC:21868 "ENST00000223336.11|NM_018224.4" HGNC:24990 COA3 cytochrome c oxidase assembly factor 3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "HSPC009|MITRAC12|COX25|hCOA3" CCDC56 coiled-coil domain containing 56 Mitochondrial respiratory chain complex assembly factors 645 2006-01-12 2012-08-07 2012-10-15 2023-01-23 28958 ENSG00000183978 OTTHUMG00000180651 uc002ibl.5 AF070665 NM_014019 CCDS32660 Q9Y2R0 "22356826|22610097|23362268" MGI:1098757 RGD:1564337 614775 434612 HGNC:24990 "ENST00000328434.8|NM_001040431.3" HGNC:24990 HGNC:24604 COA4 cytochrome c oxidase assembly factor 4 homolog protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "E2IG2|CMC3" CHCHD8 "coiled-coil-helix-coiled-coil-helix domain containing 8|cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)" "Coiled-coil-helix-coiled-coil-helix domain containing proteins|Mitochondrial respiratory chain complex assembly factors" "489|645" 2005-09-13 2012-10-15 2015-07-02 2023-01-20 51287 ENSG00000181924 OTTHUMG00000168061 uc001ouj.4 AF242180 NM_016565 CCDS8225 Q9NYJ1 "11085516|20624914" MGI:1915435 RGD:1562228 608016 HGNC:24604 "ENST00000355693.5|NM_016565.3" HGNC:33848 COA5 cytochrome c oxidase assembly factor 5 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "MGC52110|FLJ27524|Pet191" C2orf64 chromosome 2 open reading frame 64 Mitochondrial respiratory chain complex assembly factors 645 2007-12-07 2011-07-19 2012-10-15 2023-01-20 493753 ENSG00000183513 OTTHUMG00000153101 uc002syz.4 NM_001008215 CCDS33257 Q86WW8 21457908 MGI:1923428 RGD:1565095 613920 267102 HGNC:33848 "ENST00000328709.8|NM_001008215.3" HGNC:33848 -HGNC:18025 COA6 cytochrome c oxidase assembly factor 6 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 C1orf31 "chromosome 1 open reading frame 31|cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)" Mitochondrial respiratory chain complex assembly factors 645 2002-02-05 2012-10-15 2014-11-25 2023-01-20 388753 ENSG00000168275 OTTHUMG00000037945 uc057qls.1 NM_001012985 "CCDS31059|CCDS76275|CCDS55690" Q5JTJ3 "22984289|25339201" MGI:1915142 RGD:7559315 614772 422397 HGNC:18025 "ENST00000366615.10|NM_001206641.3" +HGNC:18025 COA6 cytochrome c oxidase assembly factor 6 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 C1orf31 "chromosome 1 open reading frame 31|cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)" Mitochondrial respiratory chain complex assembly factors 645 2002-02-05 2012-10-15 2014-11-25 2023-01-20 388753 ENSG00000168275 OTTHUMG00000037945 uc057qls.1 NM_001012985 "CCDS76275|CCDS55690|CCDS31059" Q5JTJ3 "22984289|25339201" MGI:1915142 RGD:7559315 614772 422397 HGNC:18025 "ENST00000366615.10|NM_001206641.3" HGNC:40825 COA6-AS1 COA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Antisense RNAs 1987 2018-09-26 2018-09-26 101927765 ENSG00000231663 NR_125961 HGNC:40825 HGNC:25716 COA7 cytochrome c oxidase assembly factor 7 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "FLJ12439|RESA1" respiratory chain assembly 1 "C1orf163|SELRC1" "chromosome 1 open reading frame 163|Sel1 repeat containing 1|cytochrome c oxidase assembly factor 7|cytochrome c oxidase assembly factor 7 (putative)" Mitochondrial respiratory chain complex assembly factors 645 2005-07-18 2014-01-03 2020-10-21 2023-01-20 65260 ENSG00000162377 OTTHUMG00000008505 AK022501 NM_023077 CCDS570 Q96BR5 "24333015|27683825|30885959" MGI:1917143 RGD:1305274 615623 HGNC:25716 "ENST00000371538.5|NM_023077.3" HGNC:25716 HGNC:20492 COA8 cytochrome c oxidase assembly factor 8 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "MGC2562|APOP-1" apoptogenic protein 1 "C14orf153|APOPT1" "chromosome 14 open reading frame 153|apoptogenic 1|apoptogenic 1, mitochondrial" Mitochondrial respiratory chain complex assembly factors 645 2004-06-11 2019-04-09 2019-04-09 2023-01-20 84334 ENSG00000256053 OTTHUMG00000153929 uc010tyc.3 BC007412 NM_032374 "CCDS9983|CCDS91944" Q96IL0 "16782708|18977203|30552096|31555154" MGI:1915270 RGD:1304719 616003 444676 HGNC:20492 "ENST00000409074.8|NM_001370595.2" HGNC:20492 -HGNC:29932 COASY Coenzyme A synthase protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "DPCK|NBP|PPAT" bifunctional Coenzyme A synthase CoA synthase 2004-03-22 2015-11-11 2023-03-15 80347 ENSG00000068120 OTTHUMG00000180245 uc002hzz.5 AF453478 NM_025233 "CCDS11429|CCDS45685" Q13057 "11923312|11980892" MGI:1918993 RGD:1549767 609855 401757 2.7.7.3 HGNC:29932 "ENST00000393818.3|NM_025233.7" HGNC:29932 -HGNC:22199 COBL cordon-bleu WH2 repeat protein protein-coding gene gene with protein product Approved 7p12.1 07p12.1 KIAA0633 cordon-bleu homolog (mouse) 2004-01-30 2012-12-07 2023-01-20 23242 ENSG00000106078 OTTHUMG00000155999 uc003tpr.5 AB014533 NM_015198 "CCDS34637|CCDS94104|CCDS75601|CCDS75602|CCDS87505" O75128 MGI:105056 RGD:1312002 610317 HGNC:22199 "ENST00000265136.12|NM_015198.5" -HGNC:23571 COBLL1 cordon-bleu WH2 repeat protein like 1 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 KIAA0977 "COBL-like 1|cordon-bleu WH2 repeat protein-like 1" Small nucleolar RNA protein coding host genes 1835 2004-01-30 2015-11-12 2023-01-20 22837 ENSG00000082438 OTTHUMG00000074019 uc061pbw.2 AB023194 NM_014900 "CCDS63046|CCDS92884|CCDS63045|CCDS2223" Q53SF7 MGI:2442894 RGD:1308954 610318 HGNC:23571 "ENST00000652658.2|NM_001365672.2" +HGNC:29932 COASY Coenzyme A synthase protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "DPCK|NBP|PPAT" bifunctional Coenzyme A synthase CoA synthase 2004-03-22 2015-11-11 2023-03-15 80347 ENSG00000068120 OTTHUMG00000180245 uc002hzz.5 AF453478 NM_025233 "CCDS45685|CCDS11429" Q13057 "11923312|11980892" MGI:1918993 RGD:1549767 609855 401757 2.7.7.3 HGNC:29932 "ENST00000393818.3|NM_025233.7" HGNC:29932 +HGNC:22199 COBL cordon-bleu WH2 repeat protein protein-coding gene gene with protein product Approved 7p12.1 07p12.1 KIAA0633 cordon-bleu homolog (mouse) 2004-01-30 2012-12-07 2023-01-20 23242 ENSG00000106078 OTTHUMG00000155999 uc003tpr.5 AB014533 NM_015198 "CCDS75601|CCDS75602|CCDS87505|CCDS94104|CCDS34637" O75128 MGI:105056 RGD:1312002 610317 HGNC:22199 "ENST00000265136.12|NM_015198.5" +HGNC:23571 COBLL1 cordon-bleu WH2 repeat protein like 1 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 KIAA0977 "COBL-like 1|cordon-bleu WH2 repeat protein-like 1" Small nucleolar RNA protein coding host genes 1835 2004-01-30 2015-11-12 2023-01-20 22837 ENSG00000082438 OTTHUMG00000074019 uc061pbw.2 AB023194 NM_014900 "CCDS63046|CCDS63045|CCDS2223|CCDS92884" Q53SF7 MGI:2442894 RGD:1308954 610318 HGNC:23571 "ENST00000652658.2|NM_001365672.2" HGNC:55060 COBLP1 COBL pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 2020-06-04 2020-06-04 392529 ENSG00000231270 NG_022694 HGNC:2180 COCH cochlin protein-coding gene gene with protein product Approved 14q12 14q12 COCH-5B2 "DFNA31|DFNA9" "coagulation factor C (Limulus polyphemus homolog); cochlin|coagulation factor C homolog, cochlin (Limulus polyphemus)" 1998-10-16 2013-05-01 2023-01-20 1690 ENSG00000100473 OTTHUMG00000029432 uc001wqr.3 NM_004086 "CCDS86382|CCDS9640" O43405 9806553 MGI:1278313 RGD:1308536 Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org 603196 120681 HGNC:2180 "ENST00000396618.9|NM_004086.3" HGNC:2180 HGNC:6545 COG1 component of oligomeric golgi complex 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA1381 LDLB low density lipoprotein receptor defect B complementing Components of oligomeric golgi complex 493 2000-07-31 2002-05-31 2002-05-28 2023-01-20 9382 ENSG00000166685 OTTHUMG00000178344 uc002jjg.4 NM_018714 CCDS11692 Q8WTW3 9927668 MGI:1333873 RGD:1304594 606973 173556 HGNC:6545 "ENST00000299886.9|NM_018714.3" HGNC:6545 HGNC:6546 COG2 component of oligomeric golgi complex 2 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 LDLC low density lipoprotein receptor defect C complementing Components of oligomeric golgi complex 493 2000-07-31 2002-05-31 2002-05-28 2023-01-20 22796 ENSG00000135775 OTTHUMG00000037753 uc001htw.4 Z34975 NM_007357 "CCDS44329|CCDS1584" Q14746 "7962052|24784932" MGI:1923582 RGD:1589822 606974 444810 HGNC:6546 "ENST00000366669.9|NM_007357.3" HGNC:6546 HGNC:18619 COG3 component of oligomeric golgi complex 3 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 SEC34 Components of oligomeric golgi complex 493 2002-05-09 2023-01-20 83548 ENSG00000136152 OTTHUMG00000016855 uc001vak.4 AF131829 NM_031431 CCDS9398 Q96JB2 11980916 MGI:2450151 RGD:1304555 606975 HGNC:18619 "ENST00000349995.10|NM_031431.4" -HGNC:18620 COG4 component of oligomeric golgi complex 4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "COD1|DKFZP586E1519" Components of oligomeric golgi complex 493 2002-05-09 2023-03-15 25839 ENSG00000103051 OTTHUMG00000128515 uc002ezc.4 AL050101 NM_001195139 "CCDS10892|CCDS73909" Q9H9E3 11980916 MGI:2142808 RGD:1310549 606976 269762 HGNC:18620 "ENST00000323786.10|NM_015386.3" HGNC:18620 -HGNC:14857 COG5 component of oligomeric golgi complex 5 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 GTC90 GOLTC1 golgi transport complex 1 (90 kDa subunit) Components of oligomeric golgi complex 493 2001-03-01 2002-05-10 2001-12-07 2023-01-20 10466 ENSG00000164597 OTTHUMG00000023895 uc003vec.3 AF058718 NM_001161520 "CCDS5742|CCDS55152|CCDS5743" Q9UP83 "9792665|11980916" MGI:2145130 RGD:1563296 606821 269752 HGNC:14857 "ENST00000297135.9|NM_006348.5" HGNC:14857 +HGNC:18620 COG4 component of oligomeric golgi complex 4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "COD1|DKFZP586E1519" Components of oligomeric golgi complex 493 2002-05-09 2023-03-15 25839 ENSG00000103051 OTTHUMG00000128515 uc002ezc.4 AL050101 NM_001195139 "CCDS73909|CCDS10892" Q9H9E3 11980916 MGI:2142808 RGD:1310549 606976 269762 HGNC:18620 "ENST00000323786.10|NM_015386.3" HGNC:18620 +HGNC:14857 COG5 component of oligomeric golgi complex 5 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 GTC90 GOLTC1 golgi transport complex 1 (90 kDa subunit) Components of oligomeric golgi complex 493 2001-03-01 2002-05-10 2001-12-07 2023-01-20 10466 ENSG00000164597 OTTHUMG00000023895 uc003vec.3 AF058718 NM_001161520 "CCDS5743|CCDS55152|CCDS5742" Q9UP83 "9792665|11980916" MGI:2145130 RGD:1563296 606821 269752 HGNC:14857 "ENST00000297135.9|NM_006348.5" HGNC:14857 HGNC:18621 COG6 component of oligomeric golgi complex 6 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "COD2|KIAA1134" Components of oligomeric golgi complex 493 2002-05-09 2023-01-20 57511 ENSG00000133103 OTTHUMG00000016768 uc001uxh.3 AK026638 NM_001145079 "CCDS9370|CCDS45042" Q9Y2V7 11980916 MGI:1914792 RGD:1303283 606977 365113 HGNC:18621 "ENST00000455146.8|NM_020751.3" HGNC:18621 HGNC:18622 COG7 component of oligomeric golgi complex 7 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 Components of oligomeric golgi complex 493 2002-05-09 2023-01-20 91949 ENSG00000168434 OTTHUMG00000094807 uc002dlo.4 AF070568 NM_153603 CCDS10610 P83436 11980916 MGI:2685013 RGD:1566058 606978 120686 HGNC:18622 "ENST00000307149.10|NM_153603.4" HGNC:18622 HGNC:18623 COG8 component of oligomeric golgi complex 8 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ22315|DOR1" Components of oligomeric golgi complex 493 2002-05-09 2023-01-20 84342 ENSG00000213380 OTTHUMG00000154277 uc002ewy.3 AK025968 NM_032382 "CCDS10876|CCDS92189" Q96MW5 11980916 MGI:2142885 RGD:1307074 606979 123357 HGNC:18623 "ENST00000306875.10|NM_032382.5" HGNC:18623 HGNC:2184 COIL coilin protein-coding gene gene with protein product Approved 17q22 17q22 "CLN80|p80-coilin" 2000-06-08 2023-01-20 8161 ENSG00000121058 OTTHUMG00000178126 uc002iuu.4 U06632 NM_004645 CCDS11592 P38432 7971277 MGI:104842 RGD:62031 600272 HGNC:2184 "ENST00000240316.5|NM_004645.3" HGNC:19927 COILP1 coilin pseudogene 1 pseudogene pseudogene Approved 14q21.1 14q21.1 COILP coilin pseudogene 2003-01-13 2006-09-21 2006-09-21 2020-04-07 317784 ENSG00000259100 OTTHUMG00000170675 NG_002476 PGOHUM00000292332 HGNC:19927 HGNC:25389 COILP2 coilin pseudogene 2 pseudogene pseudogene Approved 4q28.1 04q28.1 2006-09-21 2016-10-05 494447 NG_004786 PGOHUM00000300362 HGNC:25389 -HGNC:2197 COL1A1 collagen type I alpha 1 chain protein-coding gene gene with protein product Approved 17q21.33 17q21.33 OI4 collagen, type I, alpha 1 Collagens 490 2001-06-22 2016-07-20 2023-01-20 1277 ENSG00000108821 OTTHUMG00000148674 uc002iqm.4 Z74615 NM_000088 CCDS11561 P02452 "3178743|2857713" MGI:88467 RGD:61817 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=COL1A1|LRG_1|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1.xml" COL1A1 120150 120704 ligandId:4898 HGNC:2197 "ENST00000225964.10|NM_000088.4" HGNC:2197 -HGNC:2198 COL1A2 collagen type I alpha 2 chain protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "alpha 2(I)-collagen|alpha-2 collagen type I|type I procollagen|collagen I, alpha-2 polypeptide|collagen of skin, tendon and bone, alpha-2 chain" OI4 "osteogenesis imperfecta type IV|collagen, type I, alpha 2|collagen type I alpha 2" Collagens 490 2001-06-22 2016-05-26 2023-01-20 1278 ENSG00000164692 OTTHUMG00000148675 uc003ung.1 Z74616 NM_000089 CCDS34682 P08123 "3857213|2897363" MGI:88468 RGD:621351 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=COL1A2|LRG_2|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_2.xml" 120160 120707 HGNC:2198 "ENST00000297268.11|NM_000089.4" HGNC:2198 +HGNC:2197 COL1A1 collagen type I alpha 1 chain protein-coding gene gene with protein product Approved 17q21.33 17q21.33 OI4 collagen, type I, alpha 1 Fibrillar collagens 2247 2001-06-22 2016-07-20 2023-01-20 1277 ENSG00000108821 OTTHUMG00000148674 uc002iqm.4 Z74615 NM_000088 CCDS11561 P02452 "3178743|2857713" MGI:88467 RGD:61817 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=COL1A1|LRG_1|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1.xml" COL1A1 120150 120704 ligandId:4898 HGNC:2197 "ENST00000225964.10|NM_000088.4" HGNC:2197 +HGNC:2198 COL1A2 collagen type I alpha 2 chain protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "alpha 2(I)-collagen|alpha-2 collagen type I|type I procollagen|collagen I, alpha-2 polypeptide|collagen of skin, tendon and bone, alpha-2 chain" OI4 "osteogenesis imperfecta type IV|collagen, type I, alpha 2|collagen type I alpha 2" Fibrillar collagens 2247 2001-06-22 2016-05-26 2023-01-20 1278 ENSG00000164692 OTTHUMG00000148675 uc003ung.1 Z74616 NM_000089 CCDS34682 P08123 "3857213|2897363" MGI:88468 RGD:621351 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=COL1A2|LRG_2|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_2.xml" 120160 120707 HGNC:2198 "ENST00000297268.11|NM_000089.4" HGNC:2198 HGNC:53133 COL1A2-AS1 COL1A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 "TCONS_00013888|lncRNA8975-1" Antisense RNAs 1987 2017-03-03 2017-03-03 101927525 NR_147206 27866191 HGNC:53133 HGNC:2199 COL1AR collagen type I alpha receptor other unknown Approved 15 15 collagen, type I, alpha, receptor 1989-05-08 2016-01-21 2019-06-20 1279 2840666 120340 -HGNC:2200 COL2A1 collagen type II alpha 1 chain protein-coding gene gene with protein product Approved 12q13.11 12q13.11 STL1 "SEDC|AOM" "collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)|arthroophthalmopathy, progressive (Stickler syndrome)|collagen, type II, alpha 1|collagen type II alpha 1" Collagens 490 1986-01-01 2016-05-26 2023-01-20 1280 ENSG00000139219 OTTHUMG00000149896 uc001rqu.4 X16468 NM_001844 "CCDS8759|CCDS41778" P02458 1677770 MGI:88452 RGD:2375 LOVD - Center for Medical Genetics, Ghent, Belgium|http://medgen.ugent.be/LOVD2/home.php?select_db=COL2A1 COL2A1 120140 120710 ligandId:4899 HGNC:2200 "ENST00000380518.8|NM_001844.5" HGNC:2200 -HGNC:2201 COL3A1 collagen type III alpha 1 chain protein-coding gene gene with protein product Approved 2q32.2 02q32.2 EDS4A "Ehlers-Danlos syndrome type IV, autosomal dominant|collagen, type III, alpha 1" "Collagens|MicroRNA protein coding host genes" "490|1691" 2001-06-22 2016-05-26 2023-01-20 1281 ENSG00000168542 OTTHUMG00000132648 uc002uqj.2 X15332 NM_000090 CCDS2297 P02461 "2780304|2834369" MGI:88453 RGD:71029 "Ehlers-Danlos Syndrome Variant Database|https://eds.gene.le.ac.uk/home.php?select_db=COL3A1|LRG_3|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_3.xml" 120180 120713 ligandId:4900 HGNC:2201 "ENST00000304636.9|NM_000090.4" HGNC:2201 -HGNC:2202 COL4A1 collagen type IV alpha 1 chain protein-coding gene gene with protein product Approved 13q34 13q34 collagen, type IV, alpha 1 Collagens 490 2001-06-22 2016-05-26 2023-01-20 1282 ENSG00000187498 OTTHUMG00000017342 uc001vqw.4 J04217 NM_001303110 "CCDS9511|CCDS76649" P02462 3691802 MGI:88454 RGD:1307148 LRG_1116|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1116.xml 120130 120716 ligandId:4901 HGNC:2202 "ENST00000375820.10|NM_001845.6" HGNC:2202 -HGNC:2203 COL4A2 collagen type IV alpha 2 chain protein-coding gene gene with protein product Approved 13q34 13q34 "FLJ22259|DKFZp686I14213" "canstatin|collagen type IV alpha 2" collagen type IV alpha 2 "Collagens|MicroRNA protein coding host genes" "490|1691" 2001-06-22 2016-07-20 2023-01-20 1284 ENSG00000134871 OTTHUMG00000017344 uc001vqx.4 AK025912 NM_001846 CCDS41907 P08572 "2439508|3025878" MGI:88455 RGD:1308085 120090 291813 HGNC:2203 "ENST00000360467.7|NM_001846.4" HGNC:2203 +HGNC:2200 COL2A1 collagen type II alpha 1 chain protein-coding gene gene with protein product Approved 12q13.11 12q13.11 STL1 "SEDC|AOM" "collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)|arthroophthalmopathy, progressive (Stickler syndrome)|collagen, type II, alpha 1|collagen type II alpha 1" Fibrillar collagens 2247 1986-01-01 2016-05-26 2023-01-20 1280 ENSG00000139219 OTTHUMG00000149896 uc001rqu.4 X16468 NM_001844 "CCDS41778|CCDS8759" P02458 1677770 MGI:88452 RGD:2375 LOVD - Center for Medical Genetics, Ghent, Belgium|http://medgen.ugent.be/LOVD2/home.php?select_db=COL2A1 COL2A1 120140 120710 ligandId:4899 HGNC:2200 "ENST00000380518.8|NM_001844.5" HGNC:2200 +HGNC:2201 COL3A1 collagen type III alpha 1 chain protein-coding gene gene with protein product Approved 2q32.2 02q32.2 EDS4A "Ehlers-Danlos syndrome type IV, autosomal dominant|collagen, type III, alpha 1" "MicroRNA protein coding host genes|Fibrillar collagens" "1691|2247" 2001-06-22 2016-05-26 2023-01-20 1281 ENSG00000168542 OTTHUMG00000132648 uc002uqj.2 X15332 NM_000090 CCDS2297 P02461 "2780304|2834369" MGI:88453 RGD:71029 "Ehlers-Danlos Syndrome Variant Database|https://eds.gene.le.ac.uk/home.php?select_db=COL3A1|LRG_3|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_3.xml" 120180 120713 ligandId:4900 HGNC:2201 "ENST00000304636.9|NM_000090.4" HGNC:2201 +HGNC:2202 COL4A1 collagen type IV alpha 1 chain protein-coding gene gene with protein product Approved 13q34 13q34 collagen, type IV, alpha 1 Network forming collagens 2249 2001-06-22 2016-05-26 2023-01-20 1282 ENSG00000187498 OTTHUMG00000017342 uc001vqw.4 J04217 NM_001303110 "CCDS9511|CCDS76649" P02462 3691802 MGI:88454 RGD:1307148 LRG_1116|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1116.xml 120130 120716 ligandId:4901 HGNC:2202 "ENST00000375820.10|NM_001845.6" HGNC:2202 +HGNC:2203 COL4A2 collagen type IV alpha 2 chain protein-coding gene gene with protein product Approved 13q34 13q34 "FLJ22259|DKFZp686I14213" "canstatin|collagen type IV alpha 2" collagen type IV alpha 2 "MicroRNA protein coding host genes|Network forming collagens" "1691|2249" 2001-06-22 2016-07-20 2023-01-20 1284 ENSG00000134871 OTTHUMG00000017344 uc001vqx.4 AK025912 NM_001846 CCDS41907 P08572 "2439508|3025878" MGI:88455 RGD:1308085 120090 291813 HGNC:2203 "ENST00000360467.7|NM_001846.4" HGNC:2203 HGNC:40156 COL4A2-AS1 COL4A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 COL4A2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874203 ENSG00000232814 OTTHUMG00000149649 uc031qnh.2 NR_046583 COL4A2-AS1 HGNC:40156 HGNC:39849 COL4A2-AS2 COL4A2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q34 13q34 "COL4A2 antisense RNA 2 (non-protein coding)|COL4A2 antisense 2" Antisense RNAs 1987 2011-05-18 2021-02-11 2021-02-11 100129836 ENSG00000224821 OTTHUMG00000149650 uc058yfx.1 NR_171022 HGNC:39849 -HGNC:2204 COL4A3 collagen type IV alpha 3 chain protein-coding gene gene with protein product Approved 2q36.3 02q36.3 tumstatin collagen, type IV, alpha 3 (Goodpasture antigen) Collagens 490 1991-09-12 2016-05-26 2023-03-15 1285 ENSG00000169031 OTTHUMG00000149891 uc002vom.2 NM_000091 CCDS42829 Q01955 1737849 MGI:104688 RGD:71085 LRG_230|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_230.xml 120070 120718 HGNC:2204 "ENST00000396578.8|NM_000091.5" HGNC:2204 -HGNC:2206 COL4A4 collagen type IV alpha 4 chain protein-coding gene gene with protein product Approved 2q36.3 02q36.3 CA44 collagen of basement membrane, alpha-4 chain collagen, type IV, alpha 4 Collagens 490 1992-06-25 2016-05-26 2023-01-20 1286 ENSG00000081052 OTTHUMG00000149892 uc061teu.1 NM_000092 CCDS42828 P53420 1639407 MGI:104687 RGD:1305355 LRG_231|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_231.xml 120131 120720 HGNC:2206 "ENST00000396625.5|NM_000092.5" HGNC:2206 -HGNC:2207 COL4A5 collagen type IV alpha 5 chain protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "ASLN|ATS" "Alport syndrome|collagen, type IV, alpha 5|collagen type IV alpha 5" Collagens 490 2001-06-22 2016-05-26 2023-03-15 1287 ENSG00000188153 OTTHUMG00000022182 uc065aqj.1 M90464 NM_000495 "CCDS14543|CCDS35366" P29400 MGI:88456 RGD:1565499 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/COL4A5|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/COL4A5|LRG_232|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_232.xml" 303630 120722 HGNC:2207 "ENST00000328300.11|NM_033380.3" HGNC:2207 -HGNC:2208 COL4A6 collagen type IV alpha 6 chain protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 collagen, type IV, alpha 6 Collagens 490 1993-10-01 2016-05-26 2023-01-20 1288 ENSG00000197565 OTTHUMG00000022179 uc033eqm.2 U04845 NM_001287758 "CCDS76009|CCDS76010|CCDS14541|CCDS14542|CCDS76008" Q14031 8356449 MGI:2152695 RGD:1589724 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/COL4A6|LRG_233|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_233.xml" 303631 120726 HGNC:2208 "ENST00000334504.12|NM_033641.4" HGNC:2208 -HGNC:2209 COL5A1 collagen type V alpha 1 chain protein-coding gene gene with protein product Approved 9q34.3 09q34.3 alpha 1 type V collagen collagen type V alpha 1 Collagens 490 1992-02-26 2016-07-20 2023-01-20 1289 ENSG00000130635 OTTHUMG00000020891 uc004cfe.5 D90279 NM_000093 "CCDS75932|CCDS6982" P20908 "1572660|26910848" MGI:88457 RGD:70920 "Ehlers-Danlos Syndrome Variant Database|https://eds.gene.le.ac.uk/home.php?select_db=COL5A1|LRG_737|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_737.xml" 120215 120728 HGNC:2209 "ENST00000371817.8|NM_000093.5" HGNC:2209 +HGNC:2204 COL4A3 collagen type IV alpha 3 chain protein-coding gene gene with protein product Approved 2q36.3 02q36.3 tumstatin collagen, type IV, alpha 3 (Goodpasture antigen) Network forming collagens 2249 1991-09-12 2016-05-26 2023-03-15 1285 ENSG00000169031 OTTHUMG00000149891 uc002vom.2 NM_000091 CCDS42829 Q01955 1737849 MGI:104688 RGD:71085 LRG_230|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_230.xml 120070 120718 HGNC:2204 "ENST00000396578.8|NM_000091.5" HGNC:2204 +HGNC:2206 COL4A4 collagen type IV alpha 4 chain protein-coding gene gene with protein product Approved 2q36.3 02q36.3 CA44 collagen of basement membrane, alpha-4 chain collagen, type IV, alpha 4 Network forming collagens 2249 1992-06-25 2016-05-26 2023-01-20 1286 ENSG00000081052 OTTHUMG00000149892 uc061teu.1 NM_000092 CCDS42828 P53420 1639407 MGI:104687 RGD:1305355 LRG_231|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_231.xml 120131 120720 HGNC:2206 "ENST00000396625.5|NM_000092.5" HGNC:2206 +HGNC:2207 COL4A5 collagen type IV alpha 5 chain protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "ASLN|ATS" "Alport syndrome|collagen, type IV, alpha 5|collagen type IV alpha 5" Network forming collagens 2249 2001-06-22 2016-05-26 2023-03-15 1287 ENSG00000188153 OTTHUMG00000022182 uc065aqj.1 M90464 NM_000495 "CCDS35366|CCDS14543" P29400 MGI:88456 RGD:1565499 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/COL4A5|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/COL4A5|LRG_232|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_232.xml" 303630 120722 HGNC:2207 "ENST00000328300.11|NM_033380.3" HGNC:2207 +HGNC:2208 COL4A6 collagen type IV alpha 6 chain protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 collagen, type IV, alpha 6 Network forming collagens 2249 1993-10-01 2016-05-26 2023-01-20 1288 ENSG00000197565 OTTHUMG00000022179 uc033eqm.2 U04845 NM_001287758 "CCDS76009|CCDS14542|CCDS14541|CCDS76008|CCDS76010" Q14031 8356449 MGI:2152695 RGD:1589724 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/COL4A6|LRG_233|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_233.xml" 303631 120726 HGNC:2208 "ENST00000334504.12|NM_033641.4" HGNC:2208 +HGNC:2209 COL5A1 collagen type V alpha 1 chain protein-coding gene gene with protein product Approved 9q34.3 09q34.3 alpha 1 type V collagen collagen type V alpha 1 Fibrillar collagens 2247 1992-02-26 2016-07-20 2023-01-20 1289 ENSG00000130635 OTTHUMG00000020891 uc004cfe.5 D90279 NM_000093 "CCDS75932|CCDS6982" P20908 "1572660|26910848" MGI:88457 RGD:70920 "Ehlers-Danlos Syndrome Variant Database|https://eds.gene.le.ac.uk/home.php?select_db=COL5A1|LRG_737|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_737.xml" 120215 120728 HGNC:2209 "ENST00000371817.8|NM_000093.5" HGNC:2209 HGNC:31368 COL5A1-AS1 COL5A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 bA54A22.4 C9orf104 "chromosome 9 open reading frame 104|COL5A1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-06-02 2012-03-30 2012-08-15 2012-10-12 414316 ENSG00000204011 OTTHUMG00000020890 uc064wxh.1 "AI798815|CR748640" NR_138049 Q5SY13 COL5A1-AS1 HGNC:31368 -HGNC:2210 COL5A2 collagen type V alpha 2 chain protein-coding gene gene with protein product Approved 2q32.2 02q32.2 AB collagen collagen, type V, alpha 2 "Collagens|MicroRNA protein coding host genes" "490|1691" 2001-06-22 2016-05-26 2023-01-20 1290 ENSG00000204262 OTTHUMG00000149842 uc002uqk.4 Y14690 NM_000393 CCDS33350 P05997 1572660 MGI:88458 RGD:70921 "Ehlers-Danlos Syndrome Variant Database|https://eds.gene.le.ac.uk/home.php?select_db=COL5A2|LRG_738|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_738.xml" 120190 120730 HGNC:2210 "ENST00000374866.9|NM_000393.5" HGNC:2210 -HGNC:14864 COL5A3 collagen type V alpha 3 chain protein-coding gene gene with protein product Approved 19p13.2 19p13.2 collagen type V alpha 3 Collagens 490 2001-03-01 2016-07-20 2023-01-20 50509 ENSG00000080573 OTTHUMG00000150019 uc002mmq.1 AF177941 NM_015719 CCDS12222 P25940 "10722718|26910848" MGI:1858212 RGD:70922 120216 470112 HGNC:14864 "ENST00000264828.4|NM_015719.4" +HGNC:2210 COL5A2 collagen type V alpha 2 chain protein-coding gene gene with protein product Approved 2q32.2 02q32.2 AB collagen collagen, type V, alpha 2 "MicroRNA protein coding host genes|Fibrillar collagens" "1691|2247" 2001-06-22 2016-05-26 2023-01-20 1290 ENSG00000204262 OTTHUMG00000149842 uc002uqk.4 Y14690 NM_000393 CCDS33350 P05997 1572660 MGI:88458 RGD:70921 "Ehlers-Danlos Syndrome Variant Database|https://eds.gene.le.ac.uk/home.php?select_db=COL5A2|LRG_738|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_738.xml" 120190 120730 HGNC:2210 "ENST00000374866.9|NM_000393.5" HGNC:2210 +HGNC:14864 COL5A3 collagen type V alpha 3 chain protein-coding gene gene with protein product Approved 19p13.2 19p13.2 collagen type V alpha 3 Fibrillar collagens 2247 2001-03-01 2016-07-20 2023-01-20 50509 ENSG00000080573 OTTHUMG00000150019 uc002mmq.1 AF177941 NM_015719 CCDS12222 P25940 "10722718|26910848" MGI:1858212 RGD:70922 120216 470112 HGNC:14864 "ENST00000264828.4|NM_015719.4" HGNC:2211 COL6A1 collagen type VI alpha 1 chain protein-coding gene gene with protein product Approved 21q22.3 21q22.3 collagen, type VI, alpha 1 Collagens 490 2001-06-22 2016-07-20 2023-01-20 1291 ENSG00000142156 OTTHUMG00000090440 uc002zhu.2 M20776 NM_001848 CCDS13727 P12109 23869615 MGI:88459 RGD:1565398 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/COL6A1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=COL6A1|LRG_475|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_475.xml" 120220 120732 HGNC:2211 "ENST00000361866.8|NM_001848.3" HGNC:2211 -HGNC:2212 COL6A2 collagen type VI alpha 2 chain protein-coding gene gene with protein product Approved 21q22.3 21q22.3 collagen type VI alpha 2 Collagens 490 2001-06-22 2016-07-20 2023-01-20 1292 ENSG00000142173 OTTHUMG00000090489 uc002zia.2 M20777 NM_001849 "CCDS13728|CCDS13729|CCDS13730" P12110 23869615 MGI:88460 RGD:1305585 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/COL6A2|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=COL6A2|LRG_476|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_476.xml" 120240 120734 HGNC:2212 "ENST00000300527.9|NM_001849.4" HGNC:2212 +HGNC:2212 COL6A2 collagen type VI alpha 2 chain protein-coding gene gene with protein product Approved 21q22.3 21q22.3 collagen type VI alpha 2 Collagens 490 2001-06-22 2016-07-20 2023-01-20 1292 ENSG00000142173 OTTHUMG00000090489 uc002zia.2 M20777 NM_001849 "CCDS13728|CCDS13730|CCDS13729" P12110 23869615 MGI:88460 RGD:1305585 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/COL6A2|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=COL6A2|LRG_476|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_476.xml" 120240 120734 HGNC:2212 "ENST00000300527.9|NM_001849.4" HGNC:2212 HGNC:55814 COL6A2-DT COL6A2 divergent transcript non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Divergent transcripts 1990 2021-07-30 2021-07-30 122152369 ENSG00000227438 -HGNC:2213 COL6A3 collagen type VI alpha 3 chain protein-coding gene gene with protein product Approved 2q37.3 02q37.3 collagen, type VI, alpha 3 Collagens 490 2001-06-22 2016-05-26 2023-01-20 1293 ENSG00000163359 OTTHUMG00000150020 uc002vwl.3 X52022 NM_004369 "CCDS33411|CCDS54439|CCDS33410|CCDS33412|CCDS33409" P12111 "1339440|11992252|23869615" MGI:88461 RGD:1308704 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/COL6A3|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=COL6A3|LRG_473|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_473.xml" 120250 120736 I02.968 HGNC:2213 "ENST00000295550.9|NM_004369.4" HGNC:2213 +HGNC:2213 COL6A3 collagen type VI alpha 3 chain protein-coding gene gene with protein product Approved 2q37.3 02q37.3 collagen, type VI, alpha 3 Collagens 490 2001-06-22 2016-05-26 2023-01-20 1293 ENSG00000163359 OTTHUMG00000150020 uc002vwl.3 X52022 NM_004369 "CCDS33409|CCDS33411|CCDS33410|CCDS54439|CCDS33412" P12111 "1339440|11992252|23869615" MGI:88461 RGD:1308704 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/COL6A3|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=COL6A3|LRG_473|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_473.xml" 120250 120736 I02.968 HGNC:2213 "ENST00000295550.9|NM_004369.4" HGNC:2213 HGNC:33484 COL6A4P1 collagen type VI alpha 4 pseudogene 1 pseudogene pseudogene Approved 3p25.1 03p25.1 "VWA6|DIVA|COL6A4|COL6A4P" "von Willebrand factor A domain containing 6|collagen, type VI, alpha 4|collagen, type VI, alpha 4, pseudogene" DVWA "dual von Willebrand factor A domains|collagen, type VI, alpha 4 pseudogene 1" Collagens 490 2009-06-12 2010-05-24 2016-01-21 2020-08-14 344875 ENSG00000230524 OTTHUMG00000154983 AB299979 NR_027927 "19507504|19486942" MGI:1915803 612397 PGOHUM00000237544 HGNC:33484 HGNC:38501 COL6A4P2 collagen type VI alpha 4 pseudogene 2 pseudogene pseudogene Approved 3q22.1 03q22.1 COL6A4 collagen, type VI, alpha 4 collagen, type VI, alpha 4 pseudogene 2 Collagens 490 2010-05-24 2016-01-21 2020-08-14 646300 ENSG00000228252 OTTHUMG00000154984 BF593933 NR_027898 MGI:1915803 616612 PGOHUM00000238185 HGNC:38501 HGNC:26674 COL6A5 collagen type VI alpha 5 chain protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "FLJ35880|VWA4" von Willebrand factor A domain containing 4 COL29A1 "collagen, type XXIX, alpha 1|collagen, type VI, alpha 5|collagen type VI alpha 5" Collagens 490 2008-01-18 2010-05-24 2016-07-20 2023-01-20 256076 ENSG00000172752 OTTHUMG00000159712 uc062ntv.1 AK093199 NM_153264 "CCDS93385|CCDS93384" A8TX70 "17850181|23869615" MGI:3648134 RGD:1565804 611916 HGNC:26674 "ENST00000373157.9|NM_001278298.2" HGNC:27023 COL6A6 collagen type VI alpha 6 chain protein-coding gene gene with protein product Approved 3q22.1 03q22.1 Collagen alpha-6(VI) chain collagen, type VI, alpha 6 Collagens 490 2009-11-04 2016-07-20 2023-01-24 131873 ENSG00000206384 OTTHUMG00000159653 uc010htl.4 AL713792 NM_001102608 CCDS46911 A6NMZ7 23869615 MGI:2444259 RGD:1309172 616613 470114 HGNC:27023 "ENST00000358511.11|NM_001102608.3" HGNC:27023 HGNC:2214 COL7A1 collagen type VII alpha 1 chain protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "collagen VII, alpha-1 polypeptide|LC collagen" "EBDCT|EBD1|EBR1" "epidermolysis bullosa, dystrophic, dominant and recessive|collagen, type VII, alpha 1" "Collagens|Fibronectin type III domain containing|MicroRNA protein coding host genes" "490|555|1691" 1991-11-01 2016-07-20 2023-01-20 1294 ENSG00000114270 OTTHUMG00000133541 uc003ctz.3 L02870 NM_000094 CCDS2773 Q02388 "1871109|12727020" MGI:88462 RGD:1311417 LRG_286|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_286.xml 120120 120738 I02.967 HGNC:2214 "ENST00000681320.1|NM_000094.4" HGNC:2214 -HGNC:2215 COL8A1 collagen type VIII alpha 1 chain protein-coding gene gene with protein product Approved 3q12.1 03q12.1 MGC9568 C3orf7 "chromosome 3 open reading frame 7|collagen, type VIII, alpha 1" "Collagens|C1q domain containing" "490|1641" 1991-08-17 2016-07-20 2023-01-20 1295 ENSG00000144810 OTTHUMG00000148669 uc003dtg.3 AF170702 NM_001850 CCDS2934 P27658 2029894 MGI:88463 RGD:1309361 120251 HGNC:2215 "ENST00000652472.1|NM_020351.4" -HGNC:2216 COL8A2 collagen type VIII alpha 2 chain protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "PPCD|FECD1|PPCD2" FECD "collagen, type VIII, alpha 2|collagen type VIII alpha 2" "Collagens|C1q domain containing" "490|1641" 1991-07-16 2016-07-20 2023-01-20 1296 ENSG00000171812 OTTHUMG00000007665 uc057etn.1 M60832 NM_005202 "CCDS403|CCDS72756" P25067 11689488 MGI:88464 RGD:1305182 120252 120743 HGNC:2216 "ENST00000397799.2|NM_005202.4" HGNC:2216 -HGNC:2217 COL9A1 collagen type IX alpha 1 chain protein-coding gene gene with protein product Approved 6q13 06q13 collagen, type IX, alpha 1 "Collagens|Collagen proteoglycans" "490|575" 1989-05-08 2016-07-20 2023-01-20 1297 ENSG00000112280 OTTHUMG00000014988 uc003pfg.5 NM_001377289 "CCDS93941|CCDS93940|CCDS47447|CCDS4971" P20849 "1429648|12399468" MGI:88465 RGD:1309425 120210 120748 HGNC:2217 "ENST00000357250.11|NM_001851.6" HGNC:2217 -HGNC:2218 COL9A2 collagen type IX alpha 2 chain protein-coding gene gene with protein product Approved 1p34.2 01p34.2 MED EDM2 collagen, type IX, alpha 2 "Collagens|Collagen proteoglycans" "490|575" 1993-06-16 2016-07-20 2023-01-20 1298 ENSG00000049089 OTTHUMG00000005761 uc001cfh.2 M95610 NM_001852 CCDS450 Q14055 "8454052|8528240|1429648|21671392" MGI:88466 RGD:1307029 120260 120750 HGNC:2218 "ENST00000372748.8|NM_001852.4" HGNC:2218 -HGNC:2219 COL9A3 collagen type IX alpha 3 chain protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "IDD|MED|EDM3|FLJ90759|DJ885L7.4.1" collagen type IX proteoglycan collagen, type IX, alpha 3 "Collagens|Collagen proteoglycans" "490|575" 1995-08-15 2016-07-20 2023-01-20 1299 ENSG00000092758 OTTHUMG00000032938 uc002ydm.3 AK075240 NM_001853 CCDS13505 Q14050 "8586434|1429648|24273071" MGI:894686 RGD:1310255 LRG_1253|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1253.xml 120270 120754 HGNC:2219 "ENST00000649368.1|NM_001853.4" HGNC:2219 -HGNC:2185 COL10A1 collagen type X alpha 1 chain protein-coding gene gene with protein product Approved 6q22.1 06q22.1 Schmid metaphyseal chondrodysplasia collagen, type X, alpha 1 "Collagens|C1q domain containing" "490|1641" 1991-10-07 2016-05-26 2023-01-20 1300 ENSG00000123500 OTTHUMG00000015426 uc003pwm.4 NM_000493 CCDS5105 Q03692 2037056 MGI:88445 RGD:2371 120110 120688 HGNC:2185 "ENST00000651968.1|NM_000493.4" HGNC:2185 -HGNC:2186 COL11A1 collagen type XI alpha 1 chain protein-coding gene gene with protein product Approved 1p21.1 01p21.1 "STL2|CO11A1" collagen XI, alpha-1 polypeptide "COLL6|DFNA37" "collagen, type XI, alpha 1|deafness, autosomal dominant 37" Collagens 490 1989-05-08 2016-05-26 2023-03-15 1301 ENSG00000060718 OTTHUMG00000010872 uc001dul.4 J04177 NM_080630 "CCDS778|CCDS780|CCDS53348" P12107 "3182841|30245514" MGI:88446 RGD:2372 120280 120690 HGNC:2186 "ENST00000370096.9|NM_001854.4" HGNC:2186 -HGNC:2187 COL11A2 collagen type XI alpha 2 chain protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HKE5 "DFNA13|DFNB53" collagen, type XI, alpha 2 Collagens 490 1989-05-25 2016-07-20 2023-03-15 1302 ENSG00000204248 OTTHUMG00000031036 uc003ocy.2 U32169 NM_001163771 "CCDS54992|CCDS43452" P13942 "7559422|10581026|22246659" MGI:88447 RGD:2373 Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org 120290 120693 HGNC:2187 "ENST00000341947.7|NM_080680.3" HGNC:2187 +HGNC:2215 COL8A1 collagen type VIII alpha 1 chain protein-coding gene gene with protein product Approved 3q12.1 03q12.1 MGC9568 C3orf7 "chromosome 3 open reading frame 7|collagen, type VIII, alpha 1" "C1q domain containing|Network forming collagens" "1641|2249" 1991-08-17 2016-07-20 2023-01-20 1295 ENSG00000144810 OTTHUMG00000148669 uc003dtg.3 AF170702 NM_001850 CCDS2934 P27658 2029894 MGI:88463 RGD:1309361 120251 HGNC:2215 "ENST00000652472.1|NM_020351.4" +HGNC:2216 COL8A2 collagen type VIII alpha 2 chain protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "PPCD|FECD1|PPCD2" FECD "collagen, type VIII, alpha 2|collagen type VIII alpha 2" "C1q domain containing|Network forming collagens" "1641|2249" 1991-07-16 2016-07-20 2023-01-20 1296 ENSG00000171812 OTTHUMG00000007665 uc057etn.1 M60832 NM_005202 "CCDS403|CCDS72756" P25067 11689488 MGI:88464 RGD:1305182 120252 120743 HGNC:2216 "ENST00000397799.2|NM_005202.4" HGNC:2216 +HGNC:2217 COL9A1 collagen type IX alpha 1 chain protein-coding gene gene with protein product Approved 6q13 06q13 collagen, type IX, alpha 1 "Collagen proteoglycans| Fibril associated collagens with interrupted triple helices" "575|2248" 1989-05-08 2016-07-20 2023-01-20 1297 ENSG00000112280 OTTHUMG00000014988 uc003pfg.5 NM_001377289 "CCDS47447|CCDS93941|CCDS93940|CCDS4971" P20849 "1429648|12399468" MGI:88465 RGD:1309425 120210 120748 HGNC:2217 "ENST00000357250.11|NM_001851.6" HGNC:2217 +HGNC:2218 COL9A2 collagen type IX alpha 2 chain protein-coding gene gene with protein product Approved 1p34.2 01p34.2 MED EDM2 collagen, type IX, alpha 2 "Collagen proteoglycans| Fibril associated collagens with interrupted triple helices" "575|2248" 1993-06-16 2016-07-20 2023-01-20 1298 ENSG00000049089 OTTHUMG00000005761 uc001cfh.2 M95610 NM_001852 CCDS450 Q14055 "8454052|8528240|1429648|21671392" MGI:88466 RGD:1307029 120260 120750 HGNC:2218 "ENST00000372748.8|NM_001852.4" HGNC:2218 +HGNC:2219 COL9A3 collagen type IX alpha 3 chain protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "IDD|MED|EDM3|FLJ90759|DJ885L7.4.1" collagen type IX proteoglycan collagen, type IX, alpha 3 "Collagen proteoglycans| Fibril associated collagens with interrupted triple helices" "575|2248" 1995-08-15 2016-07-20 2023-01-20 1299 ENSG00000092758 OTTHUMG00000032938 uc002ydm.3 AK075240 NM_001853 CCDS13505 Q14050 "8586434|1429648|24273071" MGI:894686 RGD:1310255 LRG_1253|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1253.xml 120270 120754 HGNC:2219 "ENST00000649368.1|NM_001853.4" HGNC:2219 +HGNC:2185 COL10A1 collagen type X alpha 1 chain protein-coding gene gene with protein product Approved 6q22.1 06q22.1 Schmid metaphyseal chondrodysplasia collagen, type X, alpha 1 "C1q domain containing|Network forming collagens" "1641|2249" 1991-10-07 2016-05-26 2023-01-20 1300 ENSG00000123500 OTTHUMG00000015426 uc003pwm.4 NM_000493 CCDS5105 Q03692 2037056 MGI:88445 RGD:2371 120110 120688 HGNC:2185 "ENST00000651968.1|NM_000493.4" HGNC:2185 +HGNC:2186 COL11A1 collagen type XI alpha 1 chain protein-coding gene gene with protein product Approved 1p21.1 01p21.1 "STL2|CO11A1" collagen XI, alpha-1 polypeptide "COLL6|DFNA37" "collagen, type XI, alpha 1|deafness, autosomal dominant 37" Fibrillar collagens 2247 1989-05-08 2016-05-26 2023-03-15 1301 ENSG00000060718 OTTHUMG00000010872 uc001dul.4 J04177 NM_080630 "CCDS778|CCDS780|CCDS53348" P12107 "3182841|30245514" MGI:88446 RGD:2372 120280 120690 HGNC:2186 "ENST00000370096.9|NM_001854.4" HGNC:2186 +HGNC:2187 COL11A2 collagen type XI alpha 2 chain protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HKE5 "DFNA13|DFNB53" collagen, type XI, alpha 2 Fibrillar collagens 2247 1989-05-25 2016-07-20 2023-03-15 1302 ENSG00000204248 OTTHUMG00000031036 uc003ocy.2 U32169 NM_001163771 "CCDS43452|CCDS54992" P13942 "7559422|10581026|22246659" MGI:88447 RGD:2373 Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org 120290 120693 HGNC:2187 "ENST00000341947.7|NM_080680.3" HGNC:2187 HGNC:13947 COL11A2P1 collagen type XI alpha 2 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 cD0826Q1.1 COL11A2P "collagen, type XI, alpha 2 pseudogene|collagen, type XI, alpha 2 pseudogene 1" 2004-01-12 2013-01-17 2016-01-21 2016-01-21 394214 ENSG00000228688 OTTHUMG00000031065 NG_007926 PGOHUM00000243154 HGNC:13947 -HGNC:2188 COL12A1 collagen type XII alpha 1 chain protein-coding gene gene with protein product Approved 6q13-q14.1 06q13-q14.1 collagen type XII proteoglycan COL12A1L "collagen, type XII, alpha 1-like|collagen, type XII, alpha 1" "Collagens|Fibronectin type III domain containing|Collagen proteoglycans" "490|555|575" 1992-03-24 2016-05-26 2023-01-20 1303 ENSG00000111799 OTTHUMG00000015051 uc063ppm.1 U73779 NM_004370 "CCDS43482|CCDS43481" Q99715 9143499 MGI:88448 RGD:2374 120320 403672 HGNC:2188 "ENST00000322507.13|NM_004370.6" HGNC:2188 -HGNC:2190 COL13A1 collagen type XIII alpha 1 chain protein-coding gene gene with protein product Approved 10q22.1 10q22.1 collagen, type XIII, alpha 1 Collagens 490 1988-08-05 2016-05-26 2023-03-15 1305 ENSG00000197467 OTTHUMG00000018394 uc057tul.1 AJ293624 NM_005203 "CCDS91252|CCDS44419|CCDS91254|CCDS91251|CCDS44424|CCDS44425|CCDS44428|CCDS44423|CCDS44427|CCDS91253" Q5TAT6 MGI:1277201 RGD:1595704 120350 447926 HGNC:2190 "ENST00000645393.2|NM_001368882.1" HGNC:2190 -HGNC:2191 COL14A1 collagen type XIV alpha 1 chain protein-coding gene gene with protein product Approved 8q24.12 08q24.12 UND "undulin|collagen, type XIV, alpha 1" "Collagens|Fibronectin type III domain containing" "490|555" 1998-12-15 2016-05-26 2023-01-20 7373 ENSG00000187955 OTTHUMG00000149877 uc003yox.5 NM_021110 "CCDS34938|CCDS94338" Q05707 "10393435|1716629|9427527" MGI:1341272 RGD:1305806 120324 311649 HGNC:2191 "ENST00000297848.8|NM_021110.4" HGNC:2191 -HGNC:2192 COL15A1 collagen type XV alpha 1 chain protein-coding gene gene with protein product Approved 9q22.33 09q22.33 collagen type XV proteoglycan collagen, type XV, alpha 1 "Collagens|Collagen proteoglycans" "490|575" 1992-06-09 2016-05-26 2023-01-20 1306 ENSG00000204291 OTTHUMG00000020351 uc004azb.3 L25286 NM_001855 CCDS35081 P39059 1427836 MGI:88449 RGD:1310820 120325 HGNC:2192 "ENST00000375001.8|NM_001855.5" -HGNC:2193 COL16A1 collagen type XVI alpha 1 chain protein-coding gene gene with protein product Approved 1p35.2 01p35.2 collagen, type XVI, alpha 1 Collagens 490 1992-09-14 2016-05-26 2023-01-20 1307 ENSG00000084636 OTTHUMG00000003883 uc001btk.2 M92642 NM_001856 CCDS41297 Q07092 1631157 MGI:1095396 RGD:1310982 120326 HGNC:2193 "ENST00000373672.8|NM_001856.4" -HGNC:2194 COL17A1 collagen type XVII alpha 1 chain protein-coding gene gene with protein product Approved 10q25.1 10q25.1 BP180 BPAG2 collagen, type XVII, alpha 1 "Collagens|MicroRNA protein coding host genes" "490|1691" 1993-09-27 2016-07-20 2023-01-20 1308 ENSG00000065618 OTTHUMG00000018998 uc001kxr.4 M91669 "NM_130778|NM_000494" CCDS7554 Q9UMD9 "7916703|9748270" MGI:88450 RGD:1311130 LRG_1249|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1249.xml 113811 120698 HGNC:2194 "ENST00000648076.2|NM_000494.4" HGNC:2194 -HGNC:2195 COL18A1 collagen type XVIII alpha 1 chain protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KS|KNO1" endostatin KNO "Knobloch syndrome, type 1|collagen, type XVIII, alpha 1" "Collagens|MicroRNA protein coding host genes" "490|1691" 1993-05-25 2016-05-26 2023-01-20 80781 ENSG00000182871 OTTHUMG00000090407 uc062awh.1 NM_001379500 "CCDS42971|CCDS42972|CCDS77643" P39060 "8188291|8776601|10942434|17546652" MGI:88451 RGD:70936 120328 120702 HGNC:2195 "ENST00000651438.1|NM_001379500.1" HGNC:2195 +HGNC:2188 COL12A1 collagen type XII alpha 1 chain protein-coding gene gene with protein product Approved 6q13-q14.1 06q13-q14.1 collagen type XII proteoglycan COL12A1L "collagen, type XII, alpha 1-like|collagen, type XII, alpha 1" "Fibronectin type III domain containing|Collagen proteoglycans| Fibril associated collagens with interrupted triple helices" "555|575|2248" 1992-03-24 2016-05-26 2023-01-20 1303 ENSG00000111799 OTTHUMG00000015051 uc063ppm.1 U73779 NM_004370 "CCDS43482|CCDS43481" Q99715 9143499 MGI:88448 RGD:2374 120320 403672 HGNC:2188 "ENST00000322507.13|NM_004370.6" HGNC:2188 +HGNC:2190 COL13A1 collagen type XIII alpha 1 chain protein-coding gene gene with protein product Approved 10q22.1 10q22.1 collagen, type XIII, alpha 1 Membrane associated collagens with interrupted triple helices 2250 1988-08-05 2016-05-26 2023-03-15 1305 ENSG00000197467 OTTHUMG00000018394 uc057tul.1 AJ293624 NM_005203 "CCDS91251|CCDS44428|CCDS91252|CCDS44424|CCDS91253|CCDS44427|CCDS44425|CCDS44423|CCDS44419|CCDS91254" Q5TAT6 MGI:1277201 RGD:1595704 120350 447926 HGNC:2190 "ENST00000645393.2|NM_001368882.1" HGNC:2190 +HGNC:2191 COL14A1 collagen type XIV alpha 1 chain protein-coding gene gene with protein product Approved 8q24.12 08q24.12 UND "undulin|collagen, type XIV, alpha 1" "Fibronectin type III domain containing| Fibril associated collagens with interrupted triple helices" "555|2248" 1998-12-15 2016-05-26 2023-01-20 7373 ENSG00000187955 OTTHUMG00000149877 uc003yox.5 NM_021110 "CCDS94338|CCDS34938" Q05707 "10393435|1716629|9427527" MGI:1341272 RGD:1305806 120324 311649 HGNC:2191 "ENST00000297848.8|NM_021110.4" HGNC:2191 +HGNC:2192 COL15A1 collagen type XV alpha 1 chain protein-coding gene gene with protein product Approved 9q22.33 09q22.33 collagen type XV proteoglycan collagen, type XV, alpha 1 "Collagen proteoglycans|Multiplexin collagens" "575|2252" 1992-06-09 2016-05-26 2023-01-20 1306 ENSG00000204291 OTTHUMG00000020351 uc004azb.3 L25286 NM_001855 CCDS35081 P39059 1427836 MGI:88449 RGD:1310820 120325 HGNC:2192 "ENST00000375001.8|NM_001855.5" +HGNC:2193 COL16A1 collagen type XVI alpha 1 chain protein-coding gene gene with protein product Approved 1p35.2 01p35.2 collagen, type XVI, alpha 1 Fibril associated collagens with interrupted triple helices 2248 1992-09-14 2016-05-26 2023-01-20 1307 ENSG00000084636 OTTHUMG00000003883 uc001btk.2 M92642 NM_001856 CCDS41297 Q07092 1631157 MGI:1095396 RGD:1310982 120326 HGNC:2193 "ENST00000373672.8|NM_001856.4" +HGNC:2194 COL17A1 collagen type XVII alpha 1 chain protein-coding gene gene with protein product Approved 10q25.1 10q25.1 BP180 BPAG2 collagen, type XVII, alpha 1 "MicroRNA protein coding host genes|Transmembrane collagens" "1691|2251" 1993-09-27 2016-07-20 2023-01-20 1308 ENSG00000065618 OTTHUMG00000018998 uc001kxr.4 M91669 "NM_130778|NM_000494" CCDS7554 Q9UMD9 "7916703|9748270" MGI:88450 RGD:1311130 LRG_1249|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1249.xml 113811 120698 HGNC:2194 "ENST00000648076.2|NM_000494.4" HGNC:2194 +HGNC:2195 COL18A1 collagen type XVIII alpha 1 chain protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KS|KNO1" endostatin KNO "Knobloch syndrome, type 1|collagen, type XVIII, alpha 1" "MicroRNA protein coding host genes|Multiplexin collagens" "1691|2252" 1993-05-25 2016-05-26 2023-01-20 80781 ENSG00000182871 OTTHUMG00000090407 uc062awh.1 NM_001379500 "CCDS42972|CCDS77643|CCDS42971" P39060 "8188291|8776601|10942434|17546652" MGI:88451 RGD:70936 120328 120702 HGNC:2195 "ENST00000651438.1|NM_001379500.1" HGNC:2195 HGNC:23132 COL18A1-AS1 COL18A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 PRED80 "C21orf123|NCRNA00175" "chromosome 21 open reading frame 123|non-protein coding RNA 175|COL18A1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-10-01 2011-08-11 2012-08-15 2023-03-15 378832 ENSG00000183535 OTTHUMG00000090401 uc011afr.1 AK096071 NR_027498 COL18A1-AS1 HGNC:23132 HGNC:40155 COL18A1-AS2 COL18A1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 COL18A1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-08-11 2012-08-15 2014-11-19 100874236 ENSG00000224574 OTTHUMG00000137616 uc031rwa.1 NR_052004 COL18A1-AS2 HGNC:40155 -HGNC:2196 COL19A1 collagen type XIX alpha 1 chain protein-coding gene gene with protein product Approved 6q13 06q13 collagen, type XIX, alpha 1 Collagens 490 1996-10-02 2016-05-26 2023-01-20 1310 ENSG00000082293 OTTHUMG00000014987 uc032xam.2 NM_001858 CCDS4970 Q14993 "7916703|9143499" MGI:1095415 RGD:1308920 120165 HGNC:2196 "ENST00000620364.5|NM_001858.6" -HGNC:14670 COL20A1 collagen type XX alpha 1 chain protein-coding gene gene with protein product Approved 20q13.33 20q13.33 KIAA1510 Collagen alpha-1(XX) chain collagen, type XX, alpha 1 "Collagens|Fibronectin type III domain containing" "490|555" 2005-07-15 2016-05-26 2023-01-24 57642 ENSG00000101203 OTTHUMG00000032964 uc011aau.2 BC043183 NM_020882 CCDS46628 Q9P218 10819331 MGI:1920618 RGD:1563901 619390 HGNC:14670 "ENST00000358894.11|NM_020882.4" HGNC:14670 -HGNC:17025 COL21A1 collagen type XXI alpha 1 chain protein-coding gene gene with protein product Approved 6p12.1 06p12.1 collagen, type XXI, alpha 1 Collagens 490 2001-10-18 2016-05-26 2023-01-20 81578 ENSG00000124749 OTTHUMG00000014907 uc003pcs.4 AF330693 NM_001318751 "CCDS83099|CCDS55025" Q96P44 11566190 610002 HGNC:17025 "ENST00000244728.10|NM_030820.4" -HGNC:22989 COL22A1 collagen type XXII alpha 1 chain protein-coding gene gene with protein product Approved 8q24.23-q24.3 08q24.23-q24.3 collagen, type XXII, alpha 1 Collagens 490 2003-08-12 2016-07-20 2023-01-20 169044 ENSG00000169436 OTTHUMG00000150035 uc003yvd.3 AF406780 NM_152888 CCDS6376 Q8NFW1 15016833 MGI:1916950 RGD:1309081 610026 HGNC:22989 "ENST00000303045.11|NM_152888.3" -HGNC:22990 COL23A1 collagen type XXIII alpha 1 chain protein-coding gene gene with protein product Approved 5q35.3 05q35.3 DKFZp434K0621 collagen, type XXIII, alpha 1 Collagens 490 2003-08-12 2016-05-26 2023-01-20 91522 ENSG00000050767 OTTHUMG00000130890 uc063kkp.1 AL137461 NM_173465 CCDS4436 Q86Y22 12644459 MGI:2653243 RGD:727898 610043 HGNC:22990 "ENST00000390654.8|NM_173465.4" -HGNC:20821 COL24A1 collagen type XXIV alpha 1 chain protein-coding gene gene with protein product Approved 1p22.3 01p22.3 collagen, type XXIV, alpha 1 Collagens 490 2003-04-10 2016-07-20 2023-01-20 255631 ENSG00000171502 OTTHUMG00000010629 uc001dlj.4 AF410793 NM_152890 CCDS41353 Q17RW2 16373341 MGI:1918605 RGD:1565539 610025 HGNC:20821 "ENST00000370571.7|NM_152890.7" HGNC:20821 -HGNC:18603 COL25A1 collagen type XXV alpha 1 chain protein-coding gene gene with protein product Approved 4q25 04q25 collagen, type XXV, alpha 1 Collagens 490 2003-04-10 2016-07-20 2023-01-20 84570 ENSG00000188517 OTTHUMG00000150039 uc062yyf.1 AF293340 NM_032518 "CCDS43259|CCDS43258|CCDS58922" Q9BXS0 11927537 MGI:1924268 RGD:1590105 610004 422551 HGNC:18603 "ENST00000399132.6|NM_198721.4" HGNC:18603 +HGNC:2196 COL19A1 collagen type XIX alpha 1 chain protein-coding gene gene with protein product Approved 6q13 06q13 collagen, type XIX, alpha 1 Fibril associated collagens with interrupted triple helices 2248 1996-10-02 2016-05-26 2023-01-20 1310 ENSG00000082293 OTTHUMG00000014987 uc032xam.2 NM_001858 CCDS4970 Q14993 "7916703|9143499" MGI:1095415 RGD:1308920 120165 HGNC:2196 "ENST00000620364.5|NM_001858.6" +HGNC:14670 COL20A1 collagen type XX alpha 1 chain protein-coding gene gene with protein product Approved 20q13.33 20q13.33 KIAA1510 Collagen alpha-1(XX) chain collagen, type XX, alpha 1 "Fibronectin type III domain containing| Fibril associated collagens with interrupted triple helices" "555|2248" 2005-07-15 2016-05-26 2023-01-24 57642 ENSG00000101203 OTTHUMG00000032964 uc011aau.2 BC043183 NM_020882 CCDS46628 Q9P218 10819331 MGI:1920618 RGD:1563901 619390 HGNC:14670 "ENST00000358894.11|NM_020882.4" HGNC:14670 +HGNC:17025 COL21A1 collagen type XXI alpha 1 chain protein-coding gene gene with protein product Approved 6p12.1 06p12.1 collagen, type XXI, alpha 1 Fibril associated collagens with interrupted triple helices 2248 2001-10-18 2016-05-26 2023-01-20 81578 ENSG00000124749 OTTHUMG00000014907 uc003pcs.4 AF330693 NM_001318751 "CCDS83099|CCDS55025" Q96P44 11566190 610002 HGNC:17025 "ENST00000244728.10|NM_030820.4" +HGNC:22989 COL22A1 collagen type XXII alpha 1 chain protein-coding gene gene with protein product Approved 8q24.23-q24.3 08q24.23-q24.3 collagen, type XXII, alpha 1 Fibril associated collagens with interrupted triple helices 2248 2003-08-12 2016-07-20 2023-01-20 169044 ENSG00000169436 OTTHUMG00000150035 uc003yvd.3 AF406780 NM_152888 CCDS6376 Q8NFW1 15016833 MGI:1916950 RGD:1309081 610026 HGNC:22989 "ENST00000303045.11|NM_152888.3" +HGNC:22990 COL23A1 collagen type XXIII alpha 1 chain protein-coding gene gene with protein product Approved 5q35.3 05q35.3 DKFZp434K0621 collagen, type XXIII, alpha 1 Membrane associated collagens with interrupted triple helices 2250 2003-08-12 2016-05-26 2023-01-20 91522 ENSG00000050767 OTTHUMG00000130890 uc063kkp.1 AL137461 NM_173465 CCDS4436 Q86Y22 12644459 MGI:2653243 RGD:727898 610043 HGNC:22990 "ENST00000390654.8|NM_173465.4" +HGNC:20821 COL24A1 collagen type XXIV alpha 1 chain protein-coding gene gene with protein product Approved 1p22.3 01p22.3 collagen, type XXIV, alpha 1 Fibrillar collagens 2247 2003-04-10 2016-07-20 2023-01-20 255631 ENSG00000171502 OTTHUMG00000010629 uc001dlj.4 AF410793 NM_152890 CCDS41353 Q17RW2 16373341 MGI:1918605 RGD:1565539 610025 HGNC:20821 "ENST00000370571.7|NM_152890.7" HGNC:20821 +HGNC:18603 COL25A1 collagen type XXV alpha 1 chain protein-coding gene gene with protein product Approved 4q25 04q25 collagen, type XXV, alpha 1 Membrane associated collagens with interrupted triple helices 2250 2003-04-10 2016-07-20 2023-01-20 84570 ENSG00000188517 OTTHUMG00000150039 uc062yyf.1 AF293340 NM_032518 "CCDS43259|CCDS58922|CCDS43258" Q9BXS0 11927537 MGI:1924268 RGD:1590105 610004 422551 HGNC:18603 "ENST00000399132.6|NM_198721.4" HGNC:18603 HGNC:32963 COL25A1-DT COL25A1 divergent transcript non-coding RNA RNA, long non-coding Approved 4q25 04q25 FLJ45231 ZCCHC23 zinc finger CCHC-type containing 23 Divergent transcripts 1990 2006-07-14 2019-06-28 2019-06-28 2019-06-28 645078 ENSG00000246774 OTTHUMG00000161047 NR_160939 Q6ZST2 HGNC:32963 HGNC:18038 COL26A1 collagen type XXVI alpha 1 chain protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "Emu2|EMI6" Emu2 gene EMID2 "EMI domain containing 2|collagen, type XXVI, alpha 1" "Collagens|EMI domain containing" "490|540" 2003-04-10 2013-01-16 2016-07-20 2023-03-15 136227 ENSG00000160963 OTTHUMG00000150033 uc033aas.1 AJ416091 NM_133457 CCDS64739 Q96A83 "12221002|12145293" MGI:2155345 RGD:1591401 608927 HGNC:18038 "ENST00000313669.12|NM_001278563.3" -HGNC:22986 COL27A1 collagen type XXVII alpha 1 chain protein-coding gene gene with protein product Approved 9q32 09q32 "KIAA1870|MGC11337|FLJ11895" "collagen, type XXVII, alpha 1|collagen type XXVII alpha 1" "Collagens|MicroRNA protein coding host genes" "490|1691" 2003-08-12 2016-07-20 2023-01-20 85301 ENSG00000196739 OTTHUMG00000020537 uc011lxl.3 AB058773 NM_032888 CCDS6802 Q8IZC6 "12766169|12714037" MGI:2672118 RGD:735115 608461 441425 HGNC:22986 "ENST00000356083.8|NM_032888.4" HGNC:22986 +HGNC:22986 COL27A1 collagen type XXVII alpha 1 chain protein-coding gene gene with protein product Approved 9q32 09q32 "KIAA1870|MGC11337|FLJ11895" "collagen, type XXVII, alpha 1|collagen type XXVII alpha 1" "MicroRNA protein coding host genes|Fibrillar collagens" "1691|2247" 2003-08-12 2016-07-20 2023-01-20 85301 ENSG00000196739 OTTHUMG00000020537 uc011lxl.3 AB058773 NM_032888 CCDS6802 Q8IZC6 "12766169|12714037" MGI:2672118 RGD:735115 608461 441425 HGNC:22986 "ENST00000356083.8|NM_032888.4" HGNC:22986 HGNC:22442 COL28A1 collagen type XXVIII alpha 1 chain protein-coding gene gene with protein product Approved 7p21.3 07p21.3 collagen, type XXVIII, alpha 1 Collagens 490 2006-02-07 2016-05-26 2023-01-20 340267 ENSG00000215018 OTTHUMG00000150034 uc003src.2 AJ890451 NM_001037763 CCDS43553 Q2UY09 16330543 MGI:2685312 RGD:1564680 609996 HGNC:22442 "ENST00000399429.8|NM_001037763.3" HGNC:33789 COLCA1 colorectal cancer associated 1 non-coding RNA RNA, long non-coding Approved 11q23.1 11q23.1 "FLJ45803|CASC12" cancer susceptibility candidate 12 C11orf92 chromosome 11 open reading frame 92 Long non-coding RNAs with non-systematic symbols 1992 2009-03-03 2013-08-22 2013-08-22 2023-03-15 399948 ENSG00000196167 OTTHUMG00000166658 AK127703 NR_169237 Q6ZS62 "24154973|24760461" 615693 HGNC:33789 HGNC:2220 COLEC10 collectin subfamily member 10 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "CL-L1|CL-10" collectin sub-family member 10 (C-type lectin) "Collectins|C-type lectin domain containing|Complement system activation components" "491|1298|1638" 2000-04-11 2015-11-16 2023-01-20 10584 ENSG00000184374 OTTHUMG00000164971 uc003yoo.4 AB002631 NM_001324095 CCDS6327 Q9Y6Z7 10224141 MGI:3606482 RGD:1307149 607620 HGNC:2220 "ENST00000332843.3|NM_006438.5" HGNC:2220 -HGNC:17213 COLEC11 collectin subfamily member 11 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "MGC3279|CL-K1|CL-11" Collectin K1 "Collectins|C-type lectin domain containing|Complement system activation components" "491|1298|1638" 2001-11-20 2015-11-16 2023-01-20 78989 ENSG00000118004 OTTHUMG00000090304 uc002qya.5 BC000078 NM_024027 "CCDS58692|CCDS1650|CCDS1649|CCDS58689|CCDS58690|CCDS58694|CCDS58691|CCDS58693" Q9BWP8 MGI:1918943 RGD:1309678 LRG_350|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_350.xml 612502 260599 HGNC:17213 "ENST00000349077.9|NM_024027.5" HGNC:17213 +HGNC:17213 COLEC11 collectin subfamily member 11 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "MGC3279|CL-K1|CL-11" Collectin K1 "Collectins|C-type lectin domain containing|Complement system activation components" "491|1298|1638" 2001-11-20 2015-11-16 2023-01-20 78989 ENSG00000118004 OTTHUMG00000090304 uc002qya.5 BC000078 NM_024027 "CCDS58691|CCDS58694|CCDS58693|CCDS1649|CCDS1650|CCDS58692|CCDS58689|CCDS58690" Q9BWP8 MGI:1918943 RGD:1309678 LRG_350|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_350.xml 612502 260599 HGNC:17213 "ENST00000349077.9|NM_024027.5" HGNC:17213 HGNC:16016 COLEC12 collectin subfamily member 12 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "SRCL|CL-P1|SCARA4" "Collectins|Scavenger receptors|C-type lectin domain containing" "491|1253|1298" 2001-12-13 2015-11-16 2023-01-20 81035 ENSG00000158270 OTTHUMG00000178145 uc002kkm.4 AB038518 NM_130386 CCDS32782 Q5KU26 11162630 MGI:2152907 RGD:735039 607621 HGNC:16016 "ENST00000400256.5|NM_130386.3" HGNC:26182 COLGALT1 collagen beta(1-O)galactosyltransferase 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 FLJ22329 "Procollagen galactosyltransferase|Hydroxylysine galactosyltransferase" GLT25D1 glycosyltransferase 25 domain containing 1 Collagen beta(1-O)galactosyltransferases 439 2004-09-16 2013-02-27 2013-02-27 2023-01-20 79709 ENSG00000130309 uc002nhc.2 AK075541 NM_024656 CCDS12363 Q8NBJ5 "19075007|30822656" MGI:1924348 RGD:1309002 617531 470116 2.4.1.50 HGNC:26182 "ENST00000252599.9|NM_024656.4" HGNC:26182 HGNC:16790 COLGALT2 collagen beta(1-O)galactosyltransferase 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 KIAA0584 Procollagen galactosyltransferase "C1orf17|GLT25D2" "chromosome 1 open reading frame 17|glycosyltransferase 25 domain containing 2" Collagen beta(1-O)galactosyltransferases 439 2001-10-08 2013-02-27 2013-02-27 2023-01-20 23127 ENSG00000198756 OTTHUMG00000035460 uc001gqr.4 AF288389 NM_015101 "CCDS91126|CCDS1360" Q8IYK4 "19075007|30822656" MGI:2138232 RGD:1304702 617533 2.4.1.50 HGNC:16790 "ENST00000361927.9|NM_015101.4" HGNC:16790 -HGNC:2226 COLQ collagen like tail subunit of asymmetric acetylcholinesterase protein-coding gene gene with protein product Approved 3p25.1 03p25.1 EAD "single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase|collagenic tail of endplate acetylcholinesterase|AChE Q subunit|acetylcholinesterase-associated collagen" collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase MicroRNA protein coding host genes 1691 1998-09-14 2016-06-21 2023-03-15 8292 ENSG00000206561 OTTHUMG00000156233 uc003bzx.3 AF057036 NM_005677 "CCDS43057|CCDS46768|CCDS33709" Q9Y215 9689136 MGI:1338761 RGD:2377 ESTHER wwwserver: ESTerases and alpha/beta Hydrolase Enzymes & Relatives|http://bioweb.ensam.inra.fr/esther 603033 120761 HGNC:2226 "ENST00000383788.10|NM_005677.4" HGNC:2226 +HGNC:2226 COLQ collagen like tail subunit of asymmetric acetylcholinesterase protein-coding gene gene with protein product Approved 3p25.1 03p25.1 EAD "single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase|collagenic tail of endplate acetylcholinesterase|AChE Q subunit|acetylcholinesterase-associated collagen" collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase MicroRNA protein coding host genes 1691 1998-09-14 2016-06-21 2023-03-15 8292 ENSG00000206561 OTTHUMG00000156233 uc003bzx.3 AF057036 NM_005677 "CCDS46768|CCDS33709|CCDS43057" Q9Y215 9689136 MGI:1338761 RGD:2377 ESTHER wwwserver: ESTerases and alpha/beta Hydrolase Enzymes & Relatives|http://bioweb.ensam.inra.fr/esther 603033 120761 HGNC:2226 "ENST00000383788.10|NM_005677.4" HGNC:2226 HGNC:51196 COMETT cytosolic oncogenic antisense to MET transcript non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 COMET Correlated-to-MET LINC01510 long intergenic non-protein coding RNA 1510 Long non-coding RNAs with non-systematic symbols 1992 2014-08-01 2019-12-11 2019-12-11 2019-12-11 100996266 ENSG00000231210 OTTHUMG00000064097 NR_120506 "29581707|30862713" LINC01510 HGNC:51196 HGNC:23024 COMMD1 copper metabolism domain containing 1 protein-coding gene gene with protein product Approved 2p15 02p15 "MURR1|MGC27155" "copper metabolism gene MURR1|COMM domain containing 1" C2orf5 "chromosome 2 open reading frame 5 (MURR1)|copper metabolism (Murr1) domain containing 1" "COMM domain containing|CCC complex" "979|1557" 2003-08-26 2004-02-18 2016-01-07 2023-01-20 150684 ENSG00000173163 OTTHUMG00000129445 uc002sbp.4 BC022046 NM_152516 CCDS1869 Q8N668 "9001233|11809725" MGI:109474 RGD:1311771 607238 HGNC:23024 "ENST00000311832.6|NM_152516.4" HGNC:24993 COMMD2 COMM domain containing 2 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 HSPC042 COMM domain containing 979 2004-02-13 2023-01-20 51122 ENSG00000114744 OTTHUMG00000159616 uc003exj.2 AY542158 NM_016094 CCDS3145 Q86X83 15799966 MGI:1098806 RGD:1588810 616699 HGNC:24993 "ENST00000473414.6|NM_016094.4" HGNC:23332 COMMD3 COMM domain containing 3 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 BUP C10orf8 chromosome 10 open reading frame 8 "COMM domain containing|CCC complex" "979|1557" 2003-11-10 2004-02-18 2004-02-13 2023-01-20 23412 ENSG00000148444 OTTHUMG00000017806 uc001irf.4 AY542159 NM_012071 CCDS7137 Q9UBI1 "11042152|15799966" MGI:88218 RGD:735116 616700 HGNC:23332 "ENST00000376836.8|NM_012071.4" HGNC:48326 COMMD3-BMI1 COMMD3-BMI1 readthrough other readthrough Approved 10p12.2 10p12.2 2013-05-08 2023-03-15 100532731 ENSG00000269897 OTTHUMG00000184031 NM_001204062 MGI:88174 HGNC:48326 -HGNC:26027 COMMD4 COMM domain containing 4 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 FLJ20452 "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2023-01-20 54939 ENSG00000140365 OTTHUMG00000142823 uc002azy.5 AY542160 NM_017828 "CCDS10277|CCDS73764|CCDS81909|CCDS66834|CCDS66835" Q9H0A8 15799966 MGI:1913449 RGD:1306104 616701 HGNC:26027 "ENST00000267935.13|NM_017828.5" +HGNC:26027 COMMD4 COMM domain containing 4 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 FLJ20452 "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2023-01-20 54939 ENSG00000140365 OTTHUMG00000142823 uc002azy.5 AY542160 NM_017828 "CCDS66834|CCDS73764|CCDS10277|CCDS81909|CCDS66835" Q9H0A8 15799966 MGI:1913449 RGD:1306104 616701 HGNC:26027 "ENST00000267935.13|NM_017828.5" HGNC:51909 COMMD4P1 COMM domain containing 4 pseudogene 1 pseudogene pseudogene Approved 15q24.3 15q24.3 2019-08-28 2019-08-28 440292 ENSG00000214646 OTTHUMG00000172981 NR_157580 PGOHUM00000293028 HGNC:51909 HGNC:51910 COMMD4P2 COMM domain containing 4 pseudogene 2 pseudogene pseudogene Approved 15q24.1 15q24.1 2019-08-28 2019-08-28 732265 ENSG00000214702 OTTHUMG00000173052 NR_160652 PGOHUM00000293013 HGNC:51910 HGNC:17902 COMMD5 COMM domain containing 5 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "HT002|FLJ13008|HCaRG" COMM domain containing 979 2004-02-13 2023-01-20 28991 ENSG00000170619 OTTHUMG00000165251 uc003zeo.5 AK023070 NM_014066 CCDS6436 Q9GZQ3 "15799966|10918053" MGI:1913648 RGD:621468 608216 HGNC:17902 "ENST00000305103.4|NM_014066.4" @@ -5214,67 +5214,67 @@ HGNC:56190 COMMD5P1 COMMD5 pseudogene 1 pseudogene pseudogene Approved 4q12 04q1 HGNC:24015 COMMD6 COMM domain containing 6 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 Acrg "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2023-01-20 170622 ENSG00000188243 OTTHUMG00000017089 uc058xmf.1 AY542161 NM_203497 "CCDS9451|CCDS9452" Q7Z4G1 15799966 MGI:1913450 RGD:1560745 612377 HGNC:24015 "ENST00000682242.1|NM_203495.4" HGNC:16223 COMMD7 COMM domain containing 7 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 dJ1085F17.3 C20orf92 chromosome 20 open reading frame 92 "COMM domain containing|CCC complex" "979|1557" 2001-07-17 2004-02-18 2004-02-13 2023-01-20 149951 ENSG00000149600 OTTHUMG00000032229 uc002wya.5 AY542162 NM_053041 "CCDS42864|CCDS46587" Q86VX2 15799966 MGI:1914197 RGD:1307786 616703 HGNC:16223 "ENST00000278980.11|NM_053041.3" HGNC:26036 COMMD8 COMM domain containing 8 protein-coding gene gene with protein product Approved 4p12 04p12 FLJ20502 "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2023-01-20 54951 ENSG00000169019 OTTHUMG00000099435 uc003gxi.4 AY542163 NM_017845 CCDS3475 Q9NX08 15799966 MGI:1343485 RGD:1305402 616656 HGNC:26036 "ENST00000381571.6|NM_017845.5" -HGNC:25014 COMMD9 COMM domain containing 9 protein-coding gene gene with protein product Approved 11p13 11p13 "HSPC166|FLJ31106" "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2023-01-20 29099 ENSG00000110442 OTTHUMG00000166333 uc001mwn.5 AY542164 NM_014186 "CCDS44571|CCDS76395|CCDS7900" Q9P000 15799966 MGI:1923751 RGD:1307706 612299 HGNC:25014 "ENST00000263401.10|NM_014186.4" -HGNC:30201 COMMD10 COMM domain containing 10 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 PTD002 "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2023-01-20 51397 ENSG00000145781 OTTHUMG00000162922 uc003krt.2 AY542165 NM_016144 "CCDS78049|CCDS34215" Q9Y6G5 15799966 MGI:1916706 RGD:1303015 616704 HGNC:30201 "ENST00000274458.9|NM_016144.4" +HGNC:25014 COMMD9 COMM domain containing 9 protein-coding gene gene with protein product Approved 11p13 11p13 "HSPC166|FLJ31106" "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2023-01-20 29099 ENSG00000110442 OTTHUMG00000166333 uc001mwn.5 AY542164 NM_014186 "CCDS7900|CCDS76395|CCDS44571" Q9P000 15799966 MGI:1923751 RGD:1307706 612299 HGNC:25014 "ENST00000263401.10|NM_014186.4" +HGNC:30201 COMMD10 COMM domain containing 10 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 PTD002 "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2023-01-20 51397 ENSG00000145781 OTTHUMG00000162922 uc003krt.2 AY542165 NM_016144 "CCDS34215|CCDS78049" Q9Y6G5 15799966 MGI:1916706 RGD:1303015 616704 HGNC:30201 "ENST00000274458.9|NM_016144.4" HGNC:2227 COMP cartilage oligomeric matrix protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MED|THBS5|TSP5|TSP-5" "thrombospondin-5|multiple epiphyseal dysplasia" "PSACH|EDM1|EPD1" cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) Thrombospondin family 2231 1994-05-24 2023-03-21 1311 ENSG00000105664 OTTHUMG00000169318 uc002nke.4 L32137 NM_000095 CCDS12385 P49747 "7713493|8307576" MGI:88469 RGD:2378 600310 120763 HGNC:2227 "ENST00000222271.7|NM_000095.3" HGNC:2227 HGNC:2228 COMT catechol-O-methyltransferase protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "MicroRNA protein coding host genes|7BS small molecule methyltransferases" "1691|2063" 2001-06-22 2023-01-20 1312 ENSG00000093010 OTTHUMG00000150529 uc002zqu.4 NM_000754 "CCDS46663|CCDS13770" P21964 1572656 MGI:88470 RGD:2379 LRG_1010|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1010.xml 116790 241992 objectId:2472 2.1.1.6 HGNC:2228 "ENST00000361682.11|NM_000754.4" HGNC:2228 HGNC:26309 COMTD1 catechol-O-methyltransferase domain containing 1 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ23841 7BS small molecule methyltransferases 2063 2004-05-27 2023-01-20 118881 ENSG00000165644 OTTHUMG00000018518 uc001jxb.4 NM_144589 CCDS7349 Q86VU5 12975309 MGI:1916406 RGD:1306581 HGNC:26309 "ENST00000372538.8|NM_144589.4" -HGNC:17440 COP1 COP1 E3 ubiquitin ligase protein-coding gene gene with protein product Approved 1q25.1-q25.2 01q25.1-q25.2 "FLJ10416|RNF200|FAP78|CFAP78" constitutive photomorphogenic protein 1 (Arabidopsis) RFWD2 ring finger and WD repeat domain 2 "Ring finger proteins|WD repeat domain containing|Cilia and flagella associated|Small nucleolar RNA protein coding host genes" "58|362|1491|1835" 2005-01-13 2017-12-12 2019-01-21 2023-01-20 64326 ENSG00000143207 OTTHUMG00000034986 uc001gku.3 AK001278 NM_022457 "CCDS30944|CCDS44279" Q8NHY2 10395541 MGI:1347046 RGD:1304773 608067 HGNC:17440 "ENST00000367669.8|NM_022457.7" -HGNC:55666 COP1-DT COP1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 Divergent transcripts 1990 2021-06-30 2021-06-30 121832809 ENSG00000236021 +HGNC:17440 COP1 COP1 E3 ubiquitin ligase protein-coding gene gene with protein product Approved 1q25.1-q25.2 01q25.1-q25.2 "FLJ10416|RNF200|FAP78|CFAP78" constitutive photomorphogenic protein 1 (Arabidopsis) RFWD2 ring finger and WD repeat domain 2 "Ring finger proteins|WD repeat domain containing|Cilia and flagella associated|Small nucleolar RNA protein coding host genes" "58|362|1491|1835" 2005-01-13 2017-12-12 2019-01-21 2023-01-20 64326 ENSG00000143207 OTTHUMG00000034986 uc001gku.3 AK001278 NM_022457 "CCDS44279|CCDS30944" Q8NHY2 10395541 MGI:1347046 RGD:1304773 608067 HGNC:17440 "ENST00000367669.8|NM_022457.7" +HGNC:55666 COP1-DT COP1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 Divergent transcripts 1990 2021-06-30 2021-06-30 121832809 ENSG00000236021 NR_185981 HGNC:31900 COP1P1 COP1 pseudogene 1 pseudogene pseudogene Approved 18p11.23 18p11.23 "RFWD2P|RFWD2P1" "ring finger and WD repeat domain 2 pseudogene|ring finger and WD repeat domain 2 pseudogene 1|ring finger and WD repeat domain 2, E3 ubiquitin protein ligase pseudogene 1" 2005-01-13 2019-02-25 2019-02-25 2020-04-20 729391 ENSG00000266613 OTTHUMG00000178931 NG_016737 PGOHUM00000294713 HGNC:31900 HGNC:2230 COPA COPI coat complex subunit alpha protein-coding gene gene with protein product Approved 1q23.2 01q23.2 HEP-COP "proxenin|xenin" coatomer protein complex, subunit alpha "WD repeat domain containing|Receptor ligands|COPI coat complex" "362|542|1917" 1996-11-15 2019-09-27 2023-01-20 1314 ENSG00000122218 OTTHUMG00000033111 uc009wti.4 U24105 NM_004371 "CCDS1202|CCDS41424" P53621 8647451 MGI:1334462 RGD:1310525 LRG_1336|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1336.xml 601924 448689 ligandId:1587 HGNC:2230 "ENST00000241704.8|NM_004371.4" HGNC:2230 HGNC:2231 COPB1 COPI coat complex subunit beta 1 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 COPB "coatomer protein complex, subunit beta|coatomer protein complex, subunit beta 1" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|COPI coat complex" "1493|1917" 1996-11-15 2006-06-30 2019-09-27 2023-01-20 1315 ENSG00000129083 OTTHUMG00000165824 uc001mli.3 BC037280 NM_016451 CCDS7815 P53618 7982906 MGI:1917599 RGD:620861 600959 HGNC:2231 "ENST00000439561.7|NM_001144061.2" -HGNC:2232 COPB2 COPI coat complex subunit beta 2 protein-coding gene gene with protein product Approved 3q23 03q23 "beta'-COP|betaprime-COP" coatomer protein complex subunit beta prime "coatomer protein complex, subunit beta 2 (beta prime)|coatomer protein complex subunit beta 2 (beta prime)" "WD repeat domain containing|COPI coat complex" "362|1917" 1999-04-23 2019-09-27 2023-01-20 9276 ENSG00000184432 OTTHUMG00000159959 uc003etf.5 BC000326 NM_004766 "CCDS3108|CCDS93395" P35606 9858824 MGI:1354962 RGD:628746 606990 HGNC:2232 "ENST00000333188.10|NM_004766.3" HGNC:2232 +HGNC:2232 COPB2 COPI coat complex subunit beta 2 protein-coding gene gene with protein product Approved 3q23 03q23 "beta'-COP|betaprime-COP" coatomer protein complex subunit beta prime "coatomer protein complex, subunit beta 2 (beta prime)|coatomer protein complex subunit beta 2 (beta prime)" "WD repeat domain containing|COPI coat complex" "362|1917" 1999-04-23 2019-09-27 2023-01-20 9276 ENSG00000184432 OTTHUMG00000159959 uc003etf.5 BC000326 NM_004766 "CCDS93395|CCDS3108" P35606 9858824 MGI:1354962 RGD:628746 606990 HGNC:2232 "ENST00000333188.10|NM_004766.3" HGNC:2232 HGNC:55579 COPB2-DT COPB2 divergent transcript non-coding RNA RNA, long non-coding Approved 3q23 03q23 RP11-319G6.1 Divergent transcripts 1990 2021-04-23 2023-05-04 100507291 ENSG00000248932 NR_121609 HGNC:53171 COPDA1 chronic obstructive pulmonary disease associated lncRNA 1 non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 Long non-coding RNAs with non-systematic symbols 1992 2019-05-08 2019-05-08 115253418 ENSG00000253364 OTTHUMG00000164792 31050548 -HGNC:2234 COPE COPI coat complex subunit epsilon protein-coding gene gene with protein product Approved 19p13.11 19p13.11 epsilon-COP coatomer protein complex, subunit epsilon COPI coat complex 1917 1999-09-28 2019-09-27 2023-01-20 11316 ENSG00000105669 OTTHUMG00000183052 uc002nkk.4 AJ131182 NM_007263 "CCDS82321|CCDS12389|CCDS12388|CCDS12387" O14579 10469566 MGI:1891702 RGD:1306785 606942 HGNC:2234 "ENST00000262812.9|NM_007263.4" +HGNC:2234 COPE COPI coat complex subunit epsilon protein-coding gene gene with protein product Approved 19p13.11 19p13.11 epsilon-COP coatomer protein complex, subunit epsilon COPI coat complex 1917 1999-09-28 2019-09-27 2023-01-20 11316 ENSG00000105669 OTTHUMG00000183052 uc002nkk.4 AJ131182 NM_007263 "CCDS82321|CCDS12388|CCDS12387|CCDS12389" O14579 10469566 MGI:1891702 RGD:1306785 606942 HGNC:2234 "ENST00000262812.9|NM_007263.4" HGNC:2236 COPG1 COPI coat complex subunit gamma 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 coat protein gamma-cop COPG "coatomer protein complex, subunit gamma|coatomer protein complex, subunit gamma 1" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|MicroRNA protein coding host genes|COPI coat complex" "1493|1691|1917" 1999-09-28 2012-02-23 2019-09-27 2023-01-20 22820 ENSG00000181789 OTTHUMG00000159451 uc003els.4 AB047846 NM_016128 CCDS33851 Q9Y678 11056392 MGI:1858696 RGD:1565292 615525 470118 HGNC:2236 "ENST00000314797.10|NM_016128.4" -HGNC:2237 COPG2 COPI coat complex subunit gamma 2 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 2-COP coat protein, nonclathrin, gamma-2-cop coatomer protein complex, subunit gamma 2 "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|COPI coat complex" "1493|1917" 1999-12-17 2019-09-27 2023-01-20 26958 ENSG00000158623 OTTHUMG00000155364 uc033ahl.2 AF157833 NM_012133 "CCDS75662|CCDS78275" Q9UBF2 "10556286|10995575" MGI:1858683 RGD:1566215 604355 HGNC:2237 "ENST00000425248.5|NM_012133.6" +HGNC:2237 COPG2 COPI coat complex subunit gamma 2 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 2-COP coat protein, nonclathrin, gamma-2-cop coatomer protein complex, subunit gamma 2 "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|COPI coat complex" "1493|1917" 1999-12-17 2019-09-27 2023-01-20 26958 ENSG00000158623 OTTHUMG00000155364 uc033ahl.2 AF157833 NM_012133 "CCDS78275|CCDS75662" Q9UBF2 "10556286|10995575" MGI:1858683 RGD:1566215 604355 HGNC:2237 "ENST00000425248.5|NM_012133.6" HGNC:2238 COPG2IT1 COPG2 imprinted transcript 1 non-coding RNA RNA, long non-coding Approved 7q32.2 07q32.2 "CIT1|NCRNA00170|COPG2AS" "non-protein coding RNA 170|COPG2 antisense RNA (non-protein coding)|Copg2 intronic transcript 1" "coatomer protein complex, subunit gamma 2, intronic transcript 1|COPG2 imprinted transcript 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2000-05-19 2009-01-29 2018-05-16 2021-01-18 53844 ENSG00000286214 AF038190 NR_024086 10995575 610581 HGNC:2238 HGNC:28848 COPRS coordinator of PRMT5 and differentiation stimulator protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "TTP1|HSA272196|COPR5" cooperator of PRMT5 C17orf79 "chromosome 17 open reading frame 79|coordinator of PRMT5, differentiation stimulator" 2006-01-26 2012-11-16 2016-04-12 2023-01-20 55352 ENSG00000172301 OTTHUMG00000132812 uc002hgp.4 AJ272196 NM_018405 "CCDS82100|CCDS11268" Q9NQ92 "10843809|18404153" MGI:1913673 RGD:1565675 HGNC:28848 "ENST00000302362.11|NM_018405.4" HGNC:54677 COPRSP1 COPRS pseudogene 1 pseudogene pseudogene Approved 2q22.1 02q22.1 2019-11-27 2020-01-21 100420772 ENSG00000236440 NG_023613 HGNC:30747 COPS2 COP9 signalosome subunit 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "TRIP15|ALIEN|CSN2" COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) COP9 signalosome 932 2004-11-03 2013-03-14 2023-01-20 9318 ENSG00000166200 OTTHUMG00000172324 uc001zxf.4 AF212227 NM_004236 "CCDS45257|CCDS32235" P61201 "7776974|9535219" MGI:1330276 RGD:628791 604508 HGNC:30747 "ENST00000388901.10|NM_004236.4" -HGNC:2239 COPS3 COP9 signalosome subunit 3 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "SGN3|CSN3" "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3|COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)" COP9 signalosome 932 1998-10-06 2013-03-14 2023-01-26 8533 ENSG00000141030 OTTHUMG00000059281 uc002grd.4 AF031647 NM_003653 "CCDS56022|CCDS11183" Q9UNS2 "9535219|10191102" MGI:1349409 RGD:1303002 604665 HGNC:2239 "ENST00000268717.10|NM_003653.4" +HGNC:2239 COPS3 COP9 signalosome subunit 3 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "SGN3|CSN3" "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3|COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)" COP9 signalosome 932 1998-10-06 2013-03-14 2023-01-26 8533 ENSG00000141030 OTTHUMG00000059281 uc002grd.4 AF031647 NM_003653 "CCDS11183|CCDS56022" Q9UNS2 "9535219|10191102" MGI:1349409 RGD:1303002 604665 HGNC:2239 "ENST00000268717.10|NM_003653.4" HGNC:56728 COPS3P1 COPS3 pseudogene 1 pseudogene pseudogene Approved 4q35.2 04q35.2 2023-01-26 2023-01-26 100652955 ENSG00000251643 NG_149124 PGOHUM00000300094 -HGNC:16702 COPS4 COP9 signalosome subunit 4 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "CSN4|SGN4" "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4|COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)" COP9 signalosome 932 2001-09-27 2013-03-14 2023-01-20 51138 ENSG00000138663 OTTHUMG00000130298 uc003hoa.4 AF100757 NM_001258006 "CCDS82935|CCDS58909|CCDS3600" Q9BT78 9707402 MGI:1349414 RGD:1302952 616008 HGNC:16702 "ENST00000264389.7|NM_016129.3" +HGNC:16702 COPS4 COP9 signalosome subunit 4 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "CSN4|SGN4" "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4|COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)" COP9 signalosome 932 2001-09-27 2013-03-14 2023-01-20 51138 ENSG00000138663 OTTHUMG00000130298 uc003hoa.4 AF100757 NM_001258006 "CCDS82935|CCDS3600|CCDS58909" Q9BT78 9707402 MGI:1349414 RGD:1302952 616008 HGNC:16702 "ENST00000264389.7|NM_016129.3" HGNC:2240 COPS5 COP9 signalosome subunit 5 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "JAB1|SGN5|MOV-34|CSN5" "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5|COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)" "COP9 signalosome |JAMM/MPN+ metallopeptidase family" "932|999" 2000-06-08 2013-03-14 2023-01-20 10987 ENSG00000121022 OTTHUMG00000164563 uc003xxe.4 U65928 NM_006837 CCDS6198 Q92905 "8837781|9341143" MGI:1349415 RGD:1310301 604850 M67.002 HGNC:2240 "ENST00000357849.9|NM_006837.3" HGNC:24332 COPS5P1 COP9 signalosome subunit 5 pseudogene 1 pseudogene pseudogene Approved 6q16.1 06q16.1 COPS5P COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) pseudogene 2007-07-31 2013-03-14 2013-03-14 2016-07-22 135270 ENSG00000213187 OTTHUMG00000015226 NG_003102 PGOHUM00000301476 HGNC:24332 HGNC:45266 COPS5P2 COP9 signalosome subunit 5 pseudogene 2 pseudogene pseudogene Approved 12q24.31 12q24.31 2013-03-14 2020-04-06 112268476 ENSG00000270445 OTTHUMG00000184772 NG_066008 PGOHUM00000291484 HGNC:45266 HGNC:21749 COPS6 COP9 signalosome subunit 6 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MOV34-34KD|CSN6" COP9 subunit 6 (MOV34 homolog, 34 kD) COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) "COP9 signalosome |JAMM/MPN+ metallopeptidase family" "932|999" 2003-10-28 2013-03-14 2023-01-20 10980 ENSG00000168090 OTTHUMG00000154632 uc003usu.4 BC002520 NM_006833 CCDS5682 Q7L5N1 25144743 MGI:1349439 RGD:1309919 614729 M67.972 HGNC:21749 "ENST00000303904.8|NM_006833.5" HGNC:16758 COPS7A COP9 signalosome subunit 7A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 CSN7A "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A|COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)" COP9 signalosome 932 2001-10-03 2013-03-14 2023-01-20 50813 ENSG00000111652 OTTHUMG00000169182 uc001qqj.4 AF193844 NM_001164093 CCDS8558 Q9UBW8 MGI:1349400 RGD:1310070 616009 HGNC:16758 "ENST00000543155.6|NM_001164094.2" -HGNC:16760 COPS7B COP9 signalosome subunit 7B protein-coding gene gene with protein product Approved 2q37.1 02q37.1 CSN7B "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B|COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)" COP9 signalosome 932 2001-10-03 2013-03-14 2023-01-20 64708 ENSG00000144524 OTTHUMG00000133228 uc061tnp.1 AK022674 NM_022730 "CCDS63154|CCDS74668|CCDS63153|CCDS63152|CCDS77539|CCDS2488" Q9H9Q2 9707402 MGI:1349388 RGD:1306918 616010 HGNC:16760 "ENST00000350033.8|NM_022730.4" -HGNC:24335 COPS8 COP9 signalosome subunit 8 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "COP9|CSN8|MGC1297|SGN8" COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) COP9 signalosome 932 2004-01-05 2013-03-14 2023-01-20 10920 ENSG00000198612 OTTHUMG00000133297 uc002vwh.4 NM_006710 "CCDS42835|CCDS2517" Q99627 "7634324|12732143" MGI:1915363 RGD:1311404 616011 HGNC:24335 "ENST00000354371.7|NM_006710.5" -HGNC:55816 COPS8-DT COPS8 divergent transcript non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Divergent transcripts 1990 2021-07-30 2021-07-30 122152364 ENSG00000227252 +HGNC:16760 COPS7B COP9 signalosome subunit 7B protein-coding gene gene with protein product Approved 2q37.1 02q37.1 CSN7B "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B|COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)" COP9 signalosome 932 2001-10-03 2013-03-14 2023-01-20 64708 ENSG00000144524 OTTHUMG00000133228 uc061tnp.1 AK022674 NM_022730 "CCDS63154|CCDS63152|CCDS77539|CCDS2488|CCDS63153|CCDS74668" Q9H9Q2 9707402 MGI:1349388 RGD:1306918 616010 HGNC:16760 "ENST00000350033.8|NM_022730.4" +HGNC:24335 COPS8 COP9 signalosome subunit 8 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "COP9|CSN8|MGC1297|SGN8" COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) COP9 signalosome 932 2004-01-05 2013-03-14 2023-01-20 10920 ENSG00000198612 OTTHUMG00000133297 uc002vwh.4 NM_006710 "CCDS2517|CCDS42835" Q99627 "7634324|12732143" MGI:1915363 RGD:1311404 616011 HGNC:24335 "ENST00000354371.7|NM_006710.5" +HGNC:55816 COPS8-DT COPS8 divergent transcript non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Divergent transcripts 1990 2021-07-30 2021-07-30 122152364 ENSG00000227252 NR_186115 HGNC:45269 COPS8P1 COP9 signalosome subunit 8 pseudogene 1 pseudogene pseudogene Approved Xq21.2 Xq21.2 2013-03-15 2020-05-21 260342 ENSG00000271290 NG_002325 PGOHUM00000241426 HGNC:45269 HGNC:45270 COPS8P2 COP9 signalosome subunit 8 pseudogene 2 pseudogene pseudogene Approved 3p14.1 03p14.1 2013-03-15 2013-03-15 375350 ENSG00000214552 OTTHUMG00000158747 NG_003103 PGOHUM00000250284 HGNC:45270 HGNC:45271 COPS8P3 COP9 signalosome subunit 8 pseudogene 3 pseudogene pseudogene Approved 11q14.1 11q14.1 2013-03-15 2013-03-15 106479058 ENSG00000254697 OTTHUMG00000166759 NG_044561 PGOHUM00000242812 HGNC:45271 HGNC:21314 COPS9 COP9 signalosome subunit 9 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 CSNAP CSN acidic protein MYEOV2 myeloma overexpressed 2 2005-06-24 2016-04-19 2016-04-19 2023-01-20 150678 ENSG00000172428 OTTHUMG00000133352 uc010zof.2 AF453951 NM_138336 "CCDS2532|CCDS63183" Q8WXC6 "23776465|26456823" MGI:1914165 RGD:1596701 619349 HGNC:21314 "ENST00000607357.2|NM_001163424.2" -HGNC:2243 COPZ1 COPI coat complex subunit zeta 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 CGI-120 COPZ "coatomer protein complex, subunit zeta|coatomer protein complex, subunit zeta 1" "MicroRNA protein coding host genes|COPI coat complex" "1691|1917" 1999-09-28 2003-07-23 2019-09-27 2023-01-20 22818 ENSG00000111481 OTTHUMG00000169762 uc001sfs.3 AF151878 NM_016057 "CCDS61138|CCDS61139|CCDS61137|CCDS8877" P61923 MGI:1929063 RGD:1306154 615472 HGNC:2243 "ENST00000262061.7|NM_016057.3" +HGNC:2243 COPZ1 COPI coat complex subunit zeta 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 CGI-120 COPZ "coatomer protein complex, subunit zeta|coatomer protein complex, subunit zeta 1" "MicroRNA protein coding host genes|COPI coat complex" "1691|1917" 1999-09-28 2003-07-23 2019-09-27 2023-01-20 22818 ENSG00000111481 OTTHUMG00000169762 uc001sfs.3 AF151878 NM_016057 "CCDS8877|CCDS61138|CCDS61137|CCDS61139" P61923 MGI:1929063 RGD:1306154 615472 HGNC:2243 "ENST00000262061.7|NM_016057.3" HGNC:19356 COPZ2 COPI coat complex subunit zeta 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 MGC23008 "nonclathrin coat protein zeta-COP|zeta2-COP|zeta-2 coat protein" coatomer protein complex, subunit zeta 2 "MicroRNA protein coding host genes|COPI coat complex" "1691|1917" 2002-10-09 2019-09-27 2023-01-20 51226 ENSG00000005243 OTTHUMG00000178684 uc032flu.2 AB037938 NM_016429 CCDS74092 Q9P299 11056392 MGI:1929008 RGD:1306948 615526 HGNC:19356 "ENST00000621465.5|NM_016429.4" -HGNC:25223 COQ2 coenzyme Q2, polyprenyltransferase protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "CL640|FLJ26072" 4-hydroxybenzoate polyprenyltransferase coenzyme Q2 homolog, prenyltransferase (yeast) 2005-07-05 2016-03-21 2023-01-20 27235 ENSG00000173085 OTTHUMG00000160940 uc003hog.3 NM_015697 "CCDS47090|CCDS87234" Q96H96 "15153069|17332895" MGI:1919133 RGD:1306722 609825 120770 2.5.1.39 HGNC:25223 "ENST00000647002.2|NM_001358921.2" HGNC:25223 +HGNC:25223 COQ2 coenzyme Q2, polyprenyltransferase protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "CL640|FLJ26072" 4-hydroxybenzoate polyprenyltransferase coenzyme Q2 homolog, prenyltransferase (yeast) 2005-07-05 2016-03-21 2023-01-20 27235 ENSG00000173085 OTTHUMG00000160940 uc003hog.3 NM_015697 "CCDS87234|CCDS47090" Q96H96 "15153069|17332895" MGI:1919133 RGD:1306722 609825 120770 2.5.1.39 HGNC:25223 "ENST00000647002.2|NM_001358921.2" HGNC:25223 HGNC:18175 COQ3 coenzyme Q3, methyltransferase protein-coding gene gene with protein product Approved 6q16.2 06q16.2 bA9819.1 polyprenyldihydroxybenzoate methyltransferase "coenzyme Q3 homolog, methyltransferase (yeast)|coenzyme Q3 homolog, methyltransferase (S. cerevisiae)" 7BS small molecule methyltransferases 2063 2002-11-22 2016-03-21 2023-01-20 51805 ENSG00000132423 OTTHUMG00000015264 uc003ppk.4 AF193016 NM_017421 CCDS5042 Q9NZJ6 10777520 MGI:101813 RGD:2380 605196 470124 2.1.1.114 HGNC:18175 "ENST00000254759.8|NM_017421.4" HGNC:19693 COQ4 coenzyme Q4 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 CGI-92 "coenzyme Q4 homolog (yeast)|coenzyme Q4 homolog (S. cerevisiae)" 2003-01-10 2013-10-18 2023-01-20 51117 ENSG00000167113 OTTHUMG00000020743 uc004bur.5 AF151850 NM_016035 CCDS6898 Q9Y3A0 "11469793|18474229" MGI:1098826 RGD:1304638 612898 460622 HGNC:19693 "ENST00000300452.8|NM_016035.5" HGNC:19693 HGNC:28722 COQ5 coenzyme Q5, methyltransferase protein-coding gene gene with protein product Approved 12q24.31 12q24.31 MGC4767 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase "coenzyme Q5 homolog, methyltransferase (yeast)|coenzyme Q5 homolog, methyltransferase (S. cerevisiae)" 7BS small molecule methyltransferases 2063 2006-01-13 2015-07-02 2023-01-20 84274 ENSG00000110871 OTTHUMG00000169375 uc001tyn.4 AK057777 NM_032314 CCDS31912 Q5HYK3 25152161 MGI:1098643 RGD:1310857 616359 470126 2.1.1.201 HGNC:28722 "ENST00000288532.11|NM_032314.4" HGNC:20233 COQ6 coenzyme Q6, monooxygenase protein-coding gene gene with protein product Approved 14q24.3 14q24.3 CGI-10 "coenzyme Q6 homolog (yeast)|coenzyme Q6 homolog, monooxygenase (yeast)|coenzyme Q6 homolog, monooxygenase (S. cerevisiae)|coenzyme Q6 monooxygenase" 2003-01-10 2016-03-21 2023-01-20 51004 ENSG00000119723 OTTHUMG00000171260 uc001xph.4 AF132944 NM_182476 "CCDS9823|CCDS9824" Q9Y2Z9 21540551 MGI:1924408 RGD:1311149 614647 280409 1.14.13.- HGNC:20233 "ENST00000334571.7|NM_182476.3" HGNC:20233 -HGNC:2244 COQ7 coenzyme Q7, hydroxylase protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "CLK-1|CAT5" 5-demethoxyubiquinone hydroxylase "coenzyme Q, 7 (rat, yeast) homolog|coenzyme Q7 homolog, ubiquinone (yeast)" 1998-09-29 2016-03-21 2023-01-20 10229 ENSG00000167186 OTTHUMG00000131455 uc002dfr.4 U81276 NM_016138 "CCDS53993|CCDS10574" Q99807 "9020081|10373325" MGI:107207 RGD:2381 601683 470128 HGNC:2244 "ENST00000321998.10|NM_016138.5" HGNC:2244 +HGNC:2244 COQ7 coenzyme Q7, hydroxylase protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "CLK-1|CAT5" 5-demethoxyubiquinone hydroxylase "coenzyme Q, 7 (rat, yeast) homolog|coenzyme Q7 homolog, ubiquinone (yeast)" 1998-09-29 2016-03-21 2023-01-20 10229 ENSG00000167186 OTTHUMG00000131455 uc002dfr.4 U81276 NM_016138 "CCDS10574|CCDS53993" Q99807 "9020081|10373325" MGI:107207 RGD:2381 601683 470128 HGNC:2244 "ENST00000321998.10|NM_016138.5" HGNC:2244 HGNC:55362 COQ7-DT COQ7 divergent transcript non-coding RNA RNA, long non-coding Approved 16p12.3 16p12.3 Divergent transcripts 1990 2020-11-11 2020-11-11 102723385 ENSG00000261465 NR_119382 HGNC:16812 COQ8A coenzyme Q8A protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "COQ8|SCAR9" coenzyme Q8 homolog (yeast) "CABC1|ADCK3" "chaperone-ABC1 (activity of bc1 complex, S.pombe)-like|chaperone, ABC1 activity of bc1 complex like (S. pombe)|chaperone, ABC1 activity of bc1 complex homolog (S. pombe)|aarF domain containing kinase 3" 2001-10-31 2016-07-07 2016-07-07 2023-01-25 56997 ENSG00000163050 OTTHUMG00000037621 uc001hqm.2 AJ278126 NM_020247 CCDS1557 Q8NI60 "18319072|18319074|25498144" MGI:1914676 RGD:1308245 LRG_1092|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1092.xml 606980 140053 objectId:1927 HGNC:16812 "ENST00000366777.4|NM_020247.5" HGNC:16812 HGNC:19041 COQ8B coenzyme Q8B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ12229|COQ8" ADCK4 aarF domain containing kinase 4 2003-07-21 2016-07-07 2016-07-07 2023-01-25 79934 ENSG00000123815 OTTHUMG00000182620 uc002oor.2 AK022291 NM_024876 "CCDS46081|CCDS12562" Q96D53 24270420 MGI:1924139 RGD:1311356 615567 376599 objectId:1928 HGNC:19041 "ENST00000324464.8|NM_024876.4" HGNC:19041 HGNC:25302 COQ9 coenzyme Q9 protein-coding gene gene with protein product Approved 16q21 16q21 DKFZP434K046 C16orf49 "chromosome 16 open reading frame 49|coenzyme Q9 homolog (yeast)|coenzyme Q9 homolog (S. cerevisiae)" 2005-03-09 2006-01-13 2013-10-18 2023-01-20 57017 ENSG00000088682 OTTHUMG00000176582 uc002elq.4 BC064946 NM_020312 CCDS32459 O75208 19375058 MGI:1915164 RGD:1586040 612837 201526 HGNC:25302 "ENST00000262507.11|NM_020312.4" HGNC:25302 -HGNC:26515 COQ10A coenzyme Q10A protein-coding gene gene with protein product Approved 12q13.3 12q13.3 FLJ32452 "coenzyme Q10 homolog A (yeast)|coenzyme Q10 homolog A (S. cerevisiae)" 2006-01-13 2015-06-19 2023-01-20 93058 ENSG00000135469 OTTHUMG00000170283 uc001sko.5 AK057003 NM_144576 "CCDS44921|CCDS41796" Q96MF6 MGI:2684847 RGD:1562447 470120 HGNC:26515 "ENST00000308197.10|NM_144576.4" -HGNC:25819 COQ10B coenzyme Q10B protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ13448 "coenzyme Q10 homolog B (yeast)|coenzyme Q10 homolog B (S. cerevisiae)" 2006-01-13 2015-06-19 2023-01-20 80219 ENSG00000115520 OTTHUMG00000132745 uc002uuh.2 AK023510 NM_025147 "CCDS82552|CCDS82551|CCDS2319" Q9H8M1 MGI:1915126 RGD:1359509 470122 HGNC:25819 "ENST00000263960.7|NM_025147.5" +HGNC:26515 COQ10A coenzyme Q10A protein-coding gene gene with protein product Approved 12q13.3 12q13.3 FLJ32452 "coenzyme Q10 homolog A (yeast)|coenzyme Q10 homolog A (S. cerevisiae)" 2006-01-13 2015-06-19 2023-01-20 93058 ENSG00000135469 OTTHUMG00000170283 uc001sko.5 AK057003 NM_144576 "CCDS41796|CCDS44921" Q96MF6 MGI:2684847 RGD:1562447 470120 HGNC:26515 "ENST00000308197.10|NM_144576.4" +HGNC:25819 COQ10B coenzyme Q10B protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ13448 "coenzyme Q10 homolog B (yeast)|coenzyme Q10 homolog B (S. cerevisiae)" 2006-01-13 2015-06-19 2023-01-20 80219 ENSG00000115520 OTTHUMG00000132745 uc002uuh.2 AK023510 NM_025147 "CCDS82551|CCDS2319|CCDS82552" Q9H8M1 MGI:1915126 RGD:1359509 470122 HGNC:25819 "ENST00000263960.7|NM_025147.5" HGNC:44912 COQ10BP1 coenzyme Q10B pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 coenzyme Q10 homolog B pseudogene 1 2012-12-18 2015-06-26 2015-06-26 100421150 NG_025419 PGOHUM00000238373 HGNC:44912 HGNC:44913 COQ10BP2 coenzyme Q10B pseudogene 2 pseudogene pseudogene Approved 5q14.2 05q14.2 coenzyme Q10 homolog B pseudogene 2 2012-12-18 2015-06-26 2015-06-26 100421072 ENSG00000251552 OTTHUMG00000162567 NG_024606 PGOHUM00000235300 HGNC:44913 -HGNC:19012 CORIN corin, serine peptidase protein-coding gene gene with protein product Approved 4p12 04p12 "PRSC|CRN|ATC2|Lrp4|TMPRSS10" corin, serine protease "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2004-05-10 2005-08-17 2023-01-20 10699 ENSG00000145244 OTTHUMG00000099441 uc003gxm.5 AF133845 NM_001278585 "CCDS3477|CCDS63958|CCDS75122" Q9Y5Q5 10329693 MGI:1349451 RGD:727887 605236 434292 S01.019 HGNC:19012 "ENST00000273857.9|NM_006587.4" +HGNC:19012 CORIN corin, serine peptidase protein-coding gene gene with protein product Approved 4p12 04p12 "PRSC|CRN|ATC2|Lrp4|TMPRSS10" corin, serine protease "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2004-05-10 2005-08-17 2023-01-20 10699 ENSG00000145244 OTTHUMG00000099441 uc003gxm.5 AF133845 NM_001278585 "CCDS75122|CCDS3477|CCDS63958" Q9Y5Q5 10329693 MGI:1349451 RGD:727887 605236 434292 S01.019 HGNC:19012 "ENST00000273857.9|NM_006587.4" HGNC:2252 CORO1A coronin 1A protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "HCORO1|p57|coronin-1" Clabp TACO coronin, actin-binding protein, 1A "WD repeat domain containing|Coronins" "362|495" 1999-10-19 2016-01-15 2023-01-20 11151 ENSG00000102879 OTTHUMG00000132148 uc002dww.4 X89109 NM_007074 CCDS10673 P31146 9778037 MGI:1345961 RGD:620009 LRG_195|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_195.xml 605000 179462 HGNC:2252 "ENST00000219150.10|NM_007074.4" HGNC:2252 HGNC:55367 CORO1A-AS1 CORO1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Antisense RNAs 1987 2020-11-11 2020-11-11 107984834 ENSG00000261416 HGNC:2253 CORO1B coronin 1B protein-coding gene gene with protein product Approved 11q13.2 11q13.2 coronin-2 coronin, actin-binding protein, 1B "WD repeat domain containing|Coronins" "362|495" 1999-10-19 2016-01-15 2023-01-20 57175 ENSG00000172725 OTTHUMG00000167775 uc001oll.3 AK000860 NM_020441 CCDS8164 Q9BR76 9778037 MGI:1345963 RGD:2382 609849 HGNC:2253 "ENST00000341356.10|NM_020441.3" -HGNC:2254 CORO1C coronin 1C protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "coronin-3|HCRNN4" coronin, actin-binding protein, 1C "WD repeat domain containing|Coronins" "362|495" 1999-10-19 2016-01-15 2023-01-20 23603 ENSG00000110880 OTTHUMG00000169381 uc001tnj.6 BC002342 NM_014325 "CCDS9120|CCDS61236" Q9ULV4 "9778037|10461187" MGI:1345964 RGD:1564490 605269 HGNC:2254 "ENST00000261401.8|NM_014325.4" +HGNC:2254 CORO1C coronin 1C protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "coronin-3|HCRNN4" coronin, actin-binding protein, 1C "WD repeat domain containing|Coronins" "362|495" 1999-10-19 2016-01-15 2023-01-20 23603 ENSG00000110880 OTTHUMG00000169381 uc001tnj.6 BC002342 NM_014325 "CCDS61236|CCDS9120" Q9ULV4 "9778037|10461187" MGI:1345964 RGD:1564490 605269 HGNC:2254 "ENST00000261401.8|NM_014325.4" HGNC:55002 CORO1CP1 CORO1C pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 100420760 ENSG00000270268 NG_026725 HGNC:2255 CORO2A coronin 2A protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "IR10|WDR2" "coronin 2A|coronin-like protein B|WD protein IR10|WD-repeat protein 2" coronin, actin-binding protein, 2A "WD repeat domain containing|Coronins" "362|495" 1998-03-02 2016-01-15 2023-01-20 7464 ENSG00000106789 OTTHUMG00000020340 uc004aym.4 U57057 NM_003389 CCDS6735 Q92828 8985118 MGI:1345966 RGD:1309719 602159 HGNC:2255 "ENST00000375077.5|NM_052820.4" -HGNC:2256 CORO2B coronin 2B protein-coding gene gene with protein product Approved 15q23 15q23 "ClipinC|KIAA0925" "clipin C|coronin, actin-binding, 2B" coronin, actin-binding protein, 2B "WD repeat domain containing|Coronins" "362|495" 1999-10-19 2016-01-15 2023-01-20 10391 ENSG00000103647 OTTHUMG00000133288 uc059krt.1 AB010098 NM_006091 "CCDS53952|CCDS10229" Q9UQ03 "10224093|10231032" MGI:2444283 RGD:1561953 605002 HGNC:2256 "ENST00000261861.10|NM_006091.5" +HGNC:2256 CORO2B coronin 2B protein-coding gene gene with protein product Approved 15q23 15q23 "ClipinC|KIAA0925" "clipin C|coronin, actin-binding, 2B" coronin, actin-binding protein, 2B "WD repeat domain containing|Coronins" "362|495" 1999-10-19 2016-01-15 2023-01-20 10391 ENSG00000103647 OTTHUMG00000133288 uc059krt.1 AB010098 NM_006091 "CCDS10229|CCDS53952" Q9UQ03 "10224093|10231032" MGI:2444283 RGD:1561953 605002 HGNC:2256 "ENST00000261861.10|NM_006091.5" HGNC:21356 CORO6 coronin 6 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "FLJ14871|ClipinE" "WD repeat domain containing|Coronins" "362|495" 2004-10-13 2023-01-20 84940 ENSG00000167549 OTTHUMG00000132732 uc060dkh.1 AF193039 NM_032854 CCDS11252 Q6QEF8 MGI:2183448 RGD:708560 HGNC:21356 "ENST00000388767.8|NM_032854.4" -HGNC:26161 CORO7 coronin 7 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ22021|POD1" "WD repeat domain containing|Coronins" "362|495" 2004-10-13 2023-01-20 79585 ENSG00000262246 OTTHUMG00000129465 uc002cwh.5 AK097238 NM_024535 "CCDS55982|CCDS10513|CCDS58417" P57737 "15327992|25887538" MGI:1926135 RGD:621591 611668 HGNC:26161 "ENST00000251166.9|NM_024535.5" +HGNC:26161 CORO7 coronin 7 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ22021|POD1" "WD repeat domain containing|Coronins" "362|495" 2004-10-13 2023-01-20 79585 ENSG00000262246 OTTHUMG00000129465 uc002cwh.5 AK097238 NM_024535 "CCDS10513|CCDS58417|CCDS55982" P57737 "15327992|25887538" MGI:1926135 RGD:621591 611668 HGNC:26161 "ENST00000251166.9|NM_024535.5" HGNC:44424 CORO7-PAM16 CORO7-PAM16 readthrough other readthrough Approved 16p13.3 16p13.3 2012-10-03 2023-03-15 100529144 ENSG00000103426 OTTHUMG00000177664 uc002cwf.4 NM_001201479 MGI:1926135 HGNC:44424 HGNC:2257 CORT cortistatin protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "MGC32686|SST2" "prepro-cortistatin|somatostatin 2" Receptor ligands 542 1997-05-15 2023-01-20 1325 ENSG00000241563 OTTHUMG00000001906 uc001ari.5 AF013252 NM_001302 CCDS117 O00230 9205124 MGI:109538 RGD:2383 602784 ligandId:2008 HGNC:2257 "ENST00000377049.4|NM_001302.5" HGNC:51610 COSMOC cell fate and sterol metabolism associated divergent transcript of MOCOS non-coding RNA RNA, long non-coding Approved 18q12.2 18q12.2 Long non-coding RNAs with non-systematic symbols 1992 2020-07-02 2020-07-02 101927809 ENSG00000260552 OTTHUMG00000176168 NR_134605 32327736 @@ -5356,16 +5356,16 @@ HGNC:31395 COX8BP cytochrome c oxidase subunit 8B, pseudogene pseudogene pseudog HGNC:24382 COX8C cytochrome c oxidase subunit 8C protein-coding gene gene with protein product Approved 14q32.12 14q32.12 COX8-3 cytochrome c oxidase subunit VIII isoform 3 cytochrome c oxidase subunit VIIIC Mitochondrial complex IV: cytochrome c oxidase subunits 643 2004-03-24 2016-02-11 2023-01-20 341947 ENSG00000187581 OTTHUMG00000171279 uc001ybt.2 AY161004 NM_182971 CCDS9910 Q7Z4L0 12909344 MGI:1922733 RGD:727840 616855 HGNC:24382 "ENST00000342144.3|NM_182971.3" HGNC:2260 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 protein-coding gene gene with protein product Approved 17p12 17p12 "protoheme IX farnesyltransferase, mitochondrial|heme O synthase" "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)|cytochrome c oxidase assembly homolog 10 (yeast)|COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 1996-10-31 2018-06-21 2023-01-20 1352 ENSG00000006695 OTTHUMG00000058814 uc002gof.5 U09466 NM_001303 CCDS11166 Q12887 "9177788|12928484" MGI:1917633 RGD:1594623 602125 120774 2.5.1.- HGNC:2260 "ENST00000261643.8|NM_001303.4" HGNC:2260 HGNC:38873 COX10-DT COX10 divergent transcript non-coding RNA RNA, long non-coding Approved 17p12 17p12 "COX10AS|COX10-AS|COX10-AS1" "COX10 antisense RNA (non-protein coding)|COX10 antisense RNA 1 (non-protein coding)|COX10 antisense RNA 1" Divergent transcripts 1990 2010-08-19 2021-06-30 2021-06-30 2021-06-30 100874058 ENSG00000236088 OTTHUMG00000058771 uc060bkg.1 NR_049718 COX10-AS1 HGNC:38873 -HGNC:2261 COX11 cytochrome c oxidase copper chaperone COX11 protein-coding gene gene with protein product Approved 17q22 17q22 COX11P "cytochrome c oxidase subunit 11|cytochrome c oxidase assembly protein COX11" "COX11 (yeast) homolog, cytochrome c oxidase assembly protein|cytochrome c oxidase assembly homolog 11 (yeast)|COX11, cytochrome c oxidase copper chaperone" Mitochondrial respiratory chain complex assembly factors 645 1998-07-03 2018-06-21 2023-01-20 1353 ENSG00000166260 OTTHUMG00000177838 uc010wng.2 AF044321 NM_004375 "CCDS82162|CCDS58579|CCDS11583" Q9Y6N1 "9878253|15840172" MGI:1917052 RGD:9174727 603648 HGNC:2261 "ENST00000299335.8|NM_004375.5" +HGNC:2261 COX11 cytochrome c oxidase copper chaperone COX11 protein-coding gene gene with protein product Approved 17q22 17q22 COX11P "cytochrome c oxidase subunit 11|cytochrome c oxidase assembly protein COX11" "COX11 (yeast) homolog, cytochrome c oxidase assembly protein|cytochrome c oxidase assembly homolog 11 (yeast)|COX11, cytochrome c oxidase copper chaperone" Mitochondrial respiratory chain complex assembly factors 645 1998-07-03 2018-06-21 2023-01-20 1353 ENSG00000166260 OTTHUMG00000177838 uc010wng.2 AF044321 NM_004375 "CCDS11583|CCDS82162|CCDS58579" Q9Y6N1 "9878253|15840172" MGI:1917052 RGD:9174727 603648 HGNC:2261 "ENST00000299335.8|NM_004375.5" HGNC:2262 COX11P1 COX11 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 COX11P COX11 homolog, cytochrome c oxidase assembly protein (yeast) pseudogene 1998-07-03 2010-03-02 2019-01-21 2019-01-21 140468 ENSG00000231162 OTTHUMG00000014524 AF044322 NR_000031 9878253 PGOHUM00000301717 HGNC:2262 HGNC:28216 COX14 cytochrome c oxidase assembly factor COX14 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 MGC14288 C12orf62 "chromosome 12 open reading frame 62|COX14 cytochrome c oxidase assembly homolog (S. cerevisiae)|COX14, cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 2006-02-24 2012-02-23 2018-06-21 2023-01-20 84987 ENSG00000178449 OTTHUMG00000185635 uc001rwb.3 NM_032901 CCDS8800 Q96I36 "22243966|22356826" MGI:1913629 RGD:1598052 614478 291843 HGNC:28216 "ENST00000550487.6|NM_032901.4" HGNC:28216 -HGNC:2263 COX15 cytochrome c oxidase assembly homolog COX15 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 CEMCOX2 "COX15 (yeast) homolog, cytochrome c oxidase assembly protein|COX15, cytochrome c oxidase assembly homolog" Mitochondrial respiratory chain complex assembly factors 645 1998-07-03 2018-06-21 2023-01-20 1355 ENSG00000014919 OTTHUMG00000018893 uc001kqb.5 AF044323 NM_078470 "CCDS7481|CCDS7482" Q7KZN9 9878253 MGI:1920112 RGD:1312043 LRG_406|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_406.xml 603646 120776 HGNC:2263 "ENST00000016171.6|NM_078470.6" HGNC:2263 +HGNC:2263 COX15 cytochrome c oxidase assembly homolog COX15 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 CEMCOX2 "COX15 (yeast) homolog, cytochrome c oxidase assembly protein|COX15, cytochrome c oxidase assembly homolog" Mitochondrial respiratory chain complex assembly factors 645 1998-07-03 2018-06-21 2023-01-20 1355 ENSG00000014919 OTTHUMG00000018893 uc001kqb.5 AF044323 NM_078470 "CCDS7482|CCDS7481" Q7KZN9 9878253 MGI:1920112 RGD:1312043 LRG_406|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_406.xml 603646 120776 HGNC:2263 "ENST00000016171.6|NM_078470.6" HGNC:2263 HGNC:20213 COX16 cytochrome c oxidase assembly factor COX16 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 HSPC203 C14orf112 "chromosome 14 open reading frame 112|COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)|COX16, cytochrome c oxidase assembly homolog" Mitochondrial respiratory chain complex assembly factors 645 2003-01-15 2008-06-23 2018-06-21 2023-01-20 51241 ENSG00000133983 OTTHUMG00000171238 uc001xmb.3 AF151037 NM_016468 CCDS9802 Q9P0S2 "11042152|15596615|29355485" MGI:1913522 RGD:2311610 618064 HGNC:20213 "ENST00000389912.7|NM_016468.7" HGNC:2264 COX17 cytochrome c oxidase copper chaperone COX17 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "COX17 (yeast) homolog, cytochrome c oxidase assembly protein|COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)|COX17, cytochrome c oxidase copper chaperone" Mitochondrial respiratory chain complex assembly factors 645 1999-12-14 2018-06-21 2023-01-20 10063 ENSG00000138495 OTTHUMG00000159433 uc003ecz.2 L77701 NM_005694 "CCDS93345|CCDS2993" Q14061 "9050918|21816817" MGI:1333806 RGD:620548 604813 HGNC:2264 "ENST00000261070.7|NM_005694.2" HGNC:24341 COX17P1 COX17 pseudogene 1 pseudogene pseudogene Approved 13q14.13 13q14.13 COX17P "COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) pseudogene|cytochrome c oxidase assembly homolog 17 (yeast) pseudogene 1" 2007-07-31 2010-03-02 2019-01-21 2019-01-21 81993 ENSG00000205105 OTTHUMG00000016872 NG_001293 10982038 HGNC:24341 -HGNC:26801 COX18 cytochrome c oxidase assembly factor COX18 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "FLJ38991|OXA1L2" "COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)|cytochrome c oxidase assembly homolog 18 (yeast)|COX18, cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 2006-05-15 2018-06-21 2023-01-20 285521 ENSG00000163626 OTTHUMG00000129917 uc003hgm.2 AY957564 NM_173827 "CCDS75139|CCDS3554" Q8N8Q8 "16212937|16911509|28330871" MGI:2448532 RGD:1559547 610428 HGNC:26801 "ENST00000507544.3|NM_001297732.2" +HGNC:26801 COX18 cytochrome c oxidase assembly factor COX18 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "FLJ38991|OXA1L2" "COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)|cytochrome c oxidase assembly homolog 18 (yeast)|COX18, cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 2006-05-15 2018-06-21 2023-01-20 285521 ENSG00000163626 OTTHUMG00000129917 uc003hgm.2 AY957564 NM_173827 "CCDS3554|CCDS75139" Q8N8Q8 "16212937|16911509|28330871" MGI:2448532 RGD:1559547 610428 HGNC:26801 "ENST00000507544.3|NM_001297732.2" HGNC:28074 COX19 cytochrome c oxidase assembly factor COX19 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 MGC104475 "COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)|cytochrome c oxidase assembly homolog 19 (S. cerevisiae)|COX19, cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 2006-05-15 2018-06-21 2023-01-20 90639 ENSG00000240230 OTTHUMG00000151476 uc003sjp.2 AY957566 NM_001031617 CCDS34582 Q49B96 "15596615|16212937|23345593" MGI:1915283 RGD:1305631 610429 HGNC:28074 "ENST00000344111.4|NM_001031617.3" -HGNC:26970 COX20 cytochrome c oxidase assembly factor COX20 protein-coding gene gene with protein product Approved 1q44 01q44 FLJ43269 FAM36A "family with sequence similarity 36, member A|COX20 Cox2 chaperone homolog (S. cerevisiae)|COX20, cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 2004-04-16 2012-02-24 2018-06-21 2023-01-20 116228 ENSG00000203667 OTTHUMG00000040401 uc001iar.5 BC062419 NM_198076 "CCDS31080|CCDS81434" Q5RI15 "22356826|23125284" MGI:1913609 RGD:1309105 614698 326052 HGNC:26970 "ENST00000411948.7|NM_198076.6" HGNC:26970 +HGNC:26970 COX20 cytochrome c oxidase assembly factor COX20 protein-coding gene gene with protein product Approved 1q44 01q44 FLJ43269 FAM36A "family with sequence similarity 36, member A|COX20 Cox2 chaperone homolog (S. cerevisiae)|COX20, cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 2004-04-16 2012-02-24 2018-06-21 2023-01-20 116228 ENSG00000203667 OTTHUMG00000040401 uc001iar.5 BC062419 NM_198076 "CCDS81434|CCDS31080" Q5RI15 "22356826|23125284" MGI:1913609 RGD:1309105 614698 326052 HGNC:26970 "ENST00000411948.7|NM_198076.6" HGNC:26970 HGNC:31435 COX20P1 COX20 pseudogene 1 pseudogene pseudogene Approved 10q21.3 10q21.3 bA119F7.2 FAM36B "family with sequence similarity 36, member B (pseudogene)|COX20 cytochrome C oxidase assembly factor pseudogene 1" 2004-05-27 2012-02-24 2019-01-21 2020-04-20 100507102 ENSG00000213025 OTTHUMG00000018360 NG_029198 HGNC:31435 HGNC:43772 COX20P2 COX20 pseudogene 2 pseudogene pseudogene Approved 2q37.1 02q37.1 COX20 cytochrome C oxidase assembly factor pseudogene 2 2012-02-24 2019-01-21 2019-01-21 100289170 ENSG00000235013 OTTHUMG00000153827 NG_032776 PGOHUM00000241133 HGNC:43772 HGNC:2295 CP ceruloplasmin protein-coding gene gene with protein product Approved 3q24-q25.1 03q24-q25.1 AB073614 ferroxidase ceruloplasmin (ferroxidase) 1986-01-01 2016-06-02 2023-01-20 1356 ENSG00000047457 OTTHUMG00000159563 uc003ewy.6 M13536 NM_000096 CCDS3141 P00450 MGI:88476 RGD:2387 117700 120778 1.16.3.1 HGNC:2295 "ENST00000264613.11|NM_000096.4" HGNC:2295 @@ -5382,17 +5382,17 @@ HGNC:39898 CPB2-AS1 CPB2 antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:2301 CPD carboxypeptidase D protein-coding gene gene with protein product Approved 17q11.2 17q11.2 GP180 metallocarboxypeptidase D M14 carboxypeptidases 1321 1998-04-08 2023-01-20 1362 ENSG00000108582 OTTHUMG00000132797 uc002hfb.3 U65090 NM_001304 "CCDS11257|CCDS56025" O75976 "9628828|9355738" MGI:107265 RGD:2393 603102 XM14-001 objectId:1582 3.4.17.22 HGNC:2301 "ENST00000225719.9|NM_001304.5" HGNC:53102 CPDP1 carboxypeptidase D pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 2017-02-09 2017-02-09 109729163 ENSG00000264240 OTTHUMG00000179200 NG_052918 28128738 HGNC:53102 HGNC:2303 CPE carboxypeptidase E protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "carboxypeptidase H|enkephalin convertase|insulin granule-associated carboxypeptidase|cobalt-stimulated chromaffin granule carboxypeptidase" "M14 carboxypeptidases|MicroRNA protein coding host genes" "1321|1691" 1992-04-09 2023-01-20 1363 ENSG00000109472 OTTHUMG00000150252 uc003irg.5 X51405 NM_001873 CCDS3810 P16870 2334405 MGI:101932 RGD:2394 114855 M14.005 objectId:1595 3.4.17.10 HGNC:2303 "ENST00000402744.9|NM_001873.4" -HGNC:21744 CPEB1 cytoplasmic polyadenylation element binding protein 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ13203|CPEB" 2003-07-22 2023-01-20 64506 ENSG00000214575 OTTHUMG00000172877 uc002biv.5 AF329402 NM_030594 "CCDS45329|CCDS92050|CCDS42072|CCDS45330" Q9BZB8 11223249 MGI:108442 RGD:1310421 607342 HGNC:21744 "ENST00000684509.1|NM_001365242.1" +HGNC:21744 CPEB1 cytoplasmic polyadenylation element binding protein 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ13203|CPEB" 2003-07-22 2023-01-20 64506 ENSG00000214575 OTTHUMG00000172877 uc002biv.5 AF329402 NM_030594 "CCDS92050|CCDS42072|CCDS45330|CCDS45329" Q9BZB8 11223249 MGI:108442 RGD:1310421 607342 HGNC:21744 "ENST00000684509.1|NM_001365242.1" HGNC:27523 CPEB1-AS1 CPEB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.2 15q25.2 Antisense RNAs 1987 2014-11-21 2014-11-21 283692 ENSG00000259462 OTTHUMG00000172386 BC035360 NR_046096 CPEB1-AS1 HGNC:27523 -HGNC:21745 CPEB2 cytoplasmic polyadenylation element binding protein 2 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 RNA binding motif containing 725 2003-07-22 2023-03-15 132864 ENSG00000137449 OTTHUMG00000090669 uc003gnk.2 AY247744 NM_001177382 "CCDS56325|CCDS93479|CCDS56326|CCDS93480" Q7Z5Q1 12672660 MGI:2442640 RGD:1307485 610605 HGNC:21745 "ENST00000538197.7|NM_001177382.2" +HGNC:21745 CPEB2 cytoplasmic polyadenylation element binding protein 2 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 RNA binding motif containing 725 2003-07-22 2023-03-15 132864 ENSG00000137449 OTTHUMG00000090669 uc003gnk.2 AY247744 NM_001177382 "CCDS56326|CCDS93480|CCDS56325|CCDS93479" Q7Z5Q1 12672660 MGI:2442640 RGD:1307485 610605 HGNC:21745 "ENST00000538197.7|NM_001177382.2" HGNC:49082 CPEB2-DT CPEB2 divergent transcript non-coding RNA RNA, long non-coding Approved 4p15.33-p15.32 04p15.33-p15.32 DRAIR Diabetes Regulated anti-inflammatory RNA CPEB2-AS1 CPEB2 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-08-23 2018-03-22 2018-03-22 2021-05-10 441009 ENSG00000247624 OTTHUMG00000160381 NR_038857 33945509 CPEB2-AS1 HGNC:49082 HGNC:21746 CPEB3 cytoplasmic polyadenylation element binding protein 3 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 KIAA0940 RNA binding motif containing 725 2003-07-22 2023-01-20 22849 ENSG00000107864 OTTHUMG00000018756 uc001khw.3 AB023157 NM_014912 "CCDS31246|CCDS53553" Q8NE35 "10231032|12672660" MGI:2443075 RGD:1564670 610606 HGNC:21746 "ENST00000265997.5|NM_014912.5" HGNC:21746 -HGNC:21747 CPEB4 cytoplasmic polyadenylation element binding protein 4 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 KIAA1673 RNA binding motif containing 725 2003-07-22 2023-01-20 80315 ENSG00000113742 OTTHUMG00000130541 uc003mcs.5 BX538213 NM_030627 "CCDS83043|CCDS83044|CCDS78086|CCDS78087|CCDS4390" Q17RY0 "11214970|12672660" MGI:1914829 RGD:1311931 610607 HGNC:21747 "ENST00000265085.10|NM_030627.4" +HGNC:21747 CPEB4 cytoplasmic polyadenylation element binding protein 4 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 KIAA1673 RNA binding motif containing 725 2003-07-22 2023-01-20 80315 ENSG00000113742 OTTHUMG00000130541 uc003mcs.5 BX538213 NM_030627 "CCDS83044|CCDS78087|CCDS78086|CCDS4390|CCDS83043" Q17RY0 "11214970|12672660" MGI:1914829 RGD:1311931 610607 HGNC:21747 "ENST00000265085.10|NM_030627.4" HGNC:26159 CPED1 cadherin like and PC-esterase domain containing 1 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 FLJ21986 C7orf58 "chromosome 7 open reading frame 58|cadherin-like and PC-esterase domain containing 1" 2007-12-06 2012-06-12 2016-02-03 2023-01-20 79974 ENSG00000106034 OTTHUMG00000156982 uc003vjq.5 NM_024913 "CCDS47690|CCDS34739" A4D0V7 20056006 MGI:2444814 RGD:1563491 HGNC:26159 "ENST00000310396.10|NM_024913.5" HGNC:31714 CPHL1P ceruloplasmin and hephaestin like 1, pseudogene pseudogene pseudogene Approved 3q25.1 03q25.1 CPHL1 ceruloplasmin and hephaestin-like 1 2004-11-19 2010-10-13 2019-02-20 2019-02-20 389160 ENSG00000240216 OTTHUMG00000159584 NG_022938 PGOHUM00000237811 HGNC:31714 HGNC:51815 CPHXL cytoplasmic polyadenylated homeobox like protein-coding gene gene with protein product Approved 16q23.1 16q23.1 2015-06-11 2023-01-20 105371346 ENSG00000283755 OTTHUMG00000191920 NM_001355613 CCDS86543 A0A1W2PPM1 21110847 MGI:2145733 618700 HGNC:51815 "ENST00000640559.2|NM_001355613.1" HGNC:55919 CPHXL2 cytoplasmic polyadenylated homeobox like 2 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 2021-10-14 2023-01-20 112268164 ENSG00000284484 NM_001395862 CCDS92197 A0A1W2PPK0 RGD:1565219 "ENST00000640173.1|NM_001395862.1" -HGNC:25801 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "FLJ13231|JBTS17|Hug" Heart Under Glass C5orf42 "chromosome 5 open reading frame 42|ciliogenesis and planar polarity effector 1" Ciliogenesis and planar polarity effector complex subunits 1610 2007-12-13 2018-03-15 2021-12-03 2023-01-20 65250 ENSG00000197603 OTTHUMG00000160492 uc011cpa.1 NM_023073 "CCDS34146|CCDS93707" Q9H799 "22264561|25877302|29605658" MGI:1920942 RGD:1310081 614571 299619 HGNC:25801 "ENST00000651892.2|NM_001384732.1" HGNC:25801 +HGNC:25801 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "FLJ13231|JBTS17|Hug" Heart Under Glass C5orf42 "chromosome 5 open reading frame 42|ciliogenesis and planar polarity effector 1" Ciliogenesis and planar polarity effector complex subunits 1610 2007-12-13 2018-03-15 2021-12-03 2023-01-20 65250 ENSG00000197603 OTTHUMG00000160492 uc011cpa.1 NM_023073 "CCDS93707|CCDS34146" Q9H799 "22264561|25877302|29605658" MGI:1920942 RGD:1310081 614571 299619 HGNC:25801 "ENST00000651892.2|NM_001384732.1" HGNC:25801 HGNC:56117 CPLANE1-AS1 CPLANE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 Antisense RNAs 1987 2022-01-07 2022-01-07 105374727 ENSG00000286193 NR_134263 HGNC:28127 CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 MGC10731 Rem/Rab-Similar GTPase 1 "C1orf89|RSG1" "chromosome 1 open reading frame 89|REM2 and RAB like small GTPase 1|ciliogenesis and planar polarity effector 2" Ciliogenesis and planar polarity effector complex subunits 1610 2005-05-27 2018-03-15 2021-12-03 2023-01-20 79363 ENSG00000132881 OTTHUMG00000002214 uc001ayd.4 BC008702 NM_030907 CCDS171 Q9BU20 19767740 MGI:1923416 RGD:1561421 HGNC:28127 "ENST00000375599.8|NM_030907.4" HGNC:2309 CPLX1 complexin 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 CPX-I 1999-09-09 2023-01-20 10815 ENSG00000168993 OTTHUMG00000160005 uc003gbi.4 AF022383 NM_006651 CCDS46995 O14810 7553862 MGI:104727 RGD:70944 605032 HGNC:2309 "ENST00000304062.11|NM_006651.4" HGNC:2309 @@ -5403,21 +5403,21 @@ HGNC:2311 CPM carboxypeptidase M protein-coding gene gene with protein product A HGNC:55992 CPMER cytoplasmic mesoderm regulator non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Long non-coding RNAs with non-systematic symbols 1992 2022-04-12 2022-04-12 125177369 ENSG00000227838 35395174 HGNC:2312 CPN1 carboxypeptidase N subunit 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "anaphylatoxin inactivator|arginine carboxypeptidase|carboxypeptidase K|kininase I|lysine carboxypeptidase" "carboxypeptidase N, polypeptide 1, 50kD|carboxypeptidase N, polypeptide 1" M14 carboxypeptidases 1321 1998-04-08 2015-12-16 2023-01-20 1369 ENSG00000120054 OTTHUMG00000018896 uc001kql.3 X14329 NM_001308 CCDS7486 P15169 "9628828|2912725" MGI:2135874 RGD:70931 603103 M14.004 objectId:1597 3.4.17.3 HGNC:2312 "ENST00000370418.8|NM_001308.3" HGNC:2312 HGNC:2313 CPN2 carboxypeptidase N subunit 2 protein-coding gene gene with protein product Approved 3q29 03q29 ACBP "carboxypeptidase N, polypeptide 2, 83kD|carboxypeptidase N, polypeptide 2" M14 carboxypeptidases 1321 1991-08-07 2015-12-16 2023-01-20 1370 ENSG00000178772 OTTHUMG00000156047 uc003fts.3 J05158 NM_001080513 CCDS33920 P22792 "2378615|9628828" MGI:1919006 RGD:1305170 603104 objectId:1598 3.4.17.3 HGNC:2313 "ENST00000323830.4|NM_001080513.4" -HGNC:2314 CPNE1 copine 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 CPN1 copine I Copines 829 1999-02-09 2016-01-26 2023-01-20 8904 ENSG00000214078 OTTHUMG00000032356 uc002xdf.4 U83246 NM_152930 "CCDS13260|CCDS46595" Q99829 9430674 MGI:2386621 RGD:1311148 604205 HGNC:2314 "ENST00000397443.7|NM_152925.3" +HGNC:2314 CPNE1 copine 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 CPN1 copine I Copines 829 1999-02-09 2016-01-26 2023-01-20 8904 ENSG00000214078 OTTHUMG00000032356 uc002xdf.4 U83246 NM_152930 "CCDS46595|CCDS13260" Q99829 9430674 MGI:2386621 RGD:1311148 604205 HGNC:2314 "ENST00000397443.7|NM_152925.3" HGNC:2315 CPNE2 copine 2 protein-coding gene gene with protein product Approved 16q13 16q13 CPN2 copine II Copines 829 1999-02-09 2016-01-26 2023-01-20 221184 ENSG00000140848 OTTHUMG00000133471 uc002eks.3 NM_152727 CCDS10774 Q96FN4 9430674 MGI:2387578 RGD:1586036 604206 HGNC:2315 "ENST00000290776.13|NM_152727.6" HGNC:55398 CPNE2-DT CPNE2 divergent transcript non-coding RNA RNA, long non-coding Approved 16q13 16q13 Divergent transcripts 1990 2020-12-21 2020-12-21 119863867 ENSG00000260148 HGNC:2316 CPNE3 copine 3 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 copine III Copines 829 1999-02-09 2016-01-26 2023-01-20 8895 ENSG00000085719 OTTHUMG00000163725 uc064ofn.1 AB014536 NM_003909 CCDS6243 O75131 9430674 MGI:1917818 RGD:1310178 604207 HGNC:2316 "ENST00000517490.6|NM_003909.5" HGNC:2317 CPNE4 copine 4 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "COPN4|CPN4" copine 8 copine IV "Copines|MicroRNA protein coding host genes" "829|1691" 1999-02-09 2016-01-26 2023-01-20 131034 ENSG00000196353 OTTHUMG00000159631 uc003eom.5 H29499 NM_130808 "CCDS75010|CCDS3072" Q96A23 "9430674|12670487" MGI:1921270 RGD:1308844 604208 HGNC:2317 "ENST00000429747.6|NM_130808.3" -HGNC:2318 CPNE5 copine 5 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "CPN5|COPN5|KIAA1599" copine V Copines 829 1999-02-09 2016-01-26 2023-01-20 57699 ENSG00000124772 OTTHUMG00000014602 uc003omr.2 H09181 NM_020939 "CCDS83078|CCDS4825|CCDS93904" Q9HCH3 9430674 MGI:2385908 RGD:1308021 604209 HGNC:2318 "ENST00000244751.7|NM_020939.2" +HGNC:2318 CPNE5 copine 5 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "CPN5|COPN5|KIAA1599" copine V Copines 829 1999-02-09 2016-01-26 2023-01-20 57699 ENSG00000124772 OTTHUMG00000014602 uc003omr.2 H09181 NM_020939 "CCDS83078|CCDS93904|CCDS4825" Q9HCH3 9430674 MGI:2385908 RGD:1308021 604209 HGNC:2318 "ENST00000244751.7|NM_020939.2" HGNC:2319 CPNE6 copine 6 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 copine VI (neuronal) Copines 829 1999-03-24 2016-01-26 2023-01-20 9362 ENSG00000100884 OTTHUMG00000028781 uc058zuk.1 AB009288 NM_001280558 "CCDS61413|CCDS9607" O95741 9645480 MGI:1334445 RGD:1583895 605688 HGNC:2319 "ENST00000689861.1|NM_006032.4" HGNC:2319 -HGNC:2320 CPNE7 copine 7 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 copine VII Copines 829 1999-12-07 2016-01-26 2023-01-20 27132 ENSG00000178773 OTTHUMG00000138051 uc002fnq.4 AJ133798 NM_014427 "CCDS10981|CCDS10980" Q9UBL6 MGI:2142747 RGD:1307466 605689 HGNC:2320 "ENST00000319518.13|NM_153636.3" +HGNC:2320 CPNE7 copine 7 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 copine VII Copines 829 1999-12-07 2016-01-26 2023-01-20 27132 ENSG00000178773 OTTHUMG00000138051 uc002fnq.4 AJ133798 NM_014427 "CCDS10980|CCDS10981" Q9UBL6 MGI:2142747 RGD:1307466 605689 HGNC:2320 "ENST00000319518.13|NM_153636.3" HGNC:23498 CPNE8 copine 8 protein-coding gene gene with protein product Approved 12q12 12q12 copine VIII Copines 829 2003-11-20 2016-01-26 2023-01-20 144402 ENSG00000139117 OTTHUMG00000169396 uc001rls.2 AY177785 NM_153634 CCDS8733 Q86YQ8 12670487 MGI:1914121 RGD:1307939 HGNC:23498 "ENST00000331366.10|NM_153634.3" HGNC:53937 CPNE8-AS1 CPNE8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q12 12q12 RP11-396F22.1 Antisense RNAs 1987 2018-06-15 2018-07-05 107984504 ENSG00000257718 OTTHUMG00000169406 XR_001749083 "29636859|29552195" HGNC:53937 HGNC:24336 CPNE9 copine family member 9 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 KIAA4217 copine family member IX Copines 829 2006-01-06 2016-01-26 2023-01-20 151835 ENSG00000144550 OTTHUMG00000128418 uc062gli.1 NM_001033755 "CCDS77695|CCDS2574" Q8IYJ1 9430674 MGI:2443052 RGD:1309212 HGNC:24336 "ENST00000383832.8|NM_153635.3" HGNC:21011 CPO carboxypeptidase O protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "metallocarboxypeptidase O|metallocarboxypeptidase C" M14 carboxypeptidases 1321 2004-01-29 2023-01-20 130749 ENSG00000144410 OTTHUMG00000088987 uc002vby.2 NM_173077 CCDS2372 Q8IVL8 11836249 RGD:1588771 609563 M14.021 objectId:1599 HGNC:21011 "ENST00000272852.4|NM_173077.3" HGNC:2321 CPOX coproporphyrinogen oxidase protein-coding gene gene with protein product Approved 3q11.2 03q11.2 "CPX|HCP" "coproporphyria|homozygous coproporphyria" CPO coproporphyrinogen oxidase (coproporphyria, harderoporphyria) 2001-06-22 2004-01-30 2023-01-20 1371 ENSG00000080819 OTTHUMG00000160016 uc003dsx.4 BC017210 NM_000097 CCDS2932 P36551 "7757079|8407975" MGI:104841 RGD:1311817 LRG_1077|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1077.xml 612732 120783 1.3.3.3 HGNC:2321 "ENST00000647941.2|NM_000097.7" HGNC:2321 HGNC:2322 CPP ceruloplasmin pseudogene pseudogene pseudogene Approved 8q21.3 08q21.3 ceruloplasmin (ferroxidase) pseudogene 2001-06-22 2016-06-27 2020-04-07 340451 ENSG00000253525 OTTHUMG00000164061 M18058 NG_001106 3427102 PGOHUM00000303622 HGNC:2322 -HGNC:25632 CPPED1 calcineurin like phosphoesterase domain containing 1 protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "CSTP1|FLJ11151" complete S transactivated protein 1 calcineurin-like phosphoesterase domain containing 1 2009-03-13 2016-03-17 2023-01-20 55313 ENSG00000103381 OTTHUMG00000167711 uc002dca.5 AK022710 NM_018340 "CCDS42119|CCDS42120" Q9BRF8 "18771593|23939394" MGI:2443300 RGD:1306568 615603 HGNC:25632 "ENST00000381774.9|NM_018340.3" +HGNC:25632 CPPED1 calcineurin like phosphoesterase domain containing 1 protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "CSTP1|FLJ11151" complete S transactivated protein 1 calcineurin-like phosphoesterase domain containing 1 2009-03-13 2016-03-17 2023-01-20 55313 ENSG00000103381 OTTHUMG00000167711 uc002dca.5 AK022710 NM_018340 "CCDS42120|CCDS42119" Q9BRF8 "18771593|23939394" MGI:2443300 RGD:1306568 615603 HGNC:25632 "ENST00000381774.9|NM_018340.3" HGNC:16910 CPQ carboxypeptidase Q protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "LDP|PGCP" "lysosomal dipeptidase|Ser-Met dipeptidase|plasma glutamate carboxypeptidase" M14 carboxypeptidases 1321 2012-02-17 2023-01-20 10404 ENSG00000104324 OTTHUMG00000164690 uc003yhw.5 AF107834 NM_016134 CCDS6273 Q9Y646 10206990 MGI:1889205 RGD:628610 618754 objectId:1610 HGNC:16910 "ENST00000220763.10|NM_016134.4" HGNC:2323 CPS1 carbamoyl-phosphate synthase 1 protein-coding gene gene with protein product Approved 2q34 02q34 GATD6 carbamoyl-phosphate synthase (ammonia) "carbamoyl-phosphate synthetase 1, mitochondrial|carbamoyl-phosphate synthase 1, mitochondrial" Glutamine amidotransferase class 1 domain containing 1408 2001-06-22 2015-11-12 2023-03-15 1373 ENSG00000021826 OTTHUMG00000132994 uc002vee.5 AF154830 NM_001122633 CCDS2393 P31327 MGI:891996 RGD:2395 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CPS1|LRG_336|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_336.xml" 608307 120788 6.3.4.16 HGNC:2323 "ENST00000233072.10|NM_001875.5" HGNC:2323 HGNC:30102 CPS1-IT1 CPS1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q34 02q34 "PRO0132|CPS1-IT" CPS1IT CPS1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2010-07-08 2011-03-23 2015-02-25 2018-07-20 29034 ENSG00000280837 OTTHUMG00000189581 uc002vef.4 NR_002763 "27662619|29145177" CPS1-IT1 HGNC:30102 @@ -5426,14 +5426,14 @@ HGNC:19251 CPSF1P1 CPSF1 pseudogene 1 pseudogene pseudogene Approved 22q12.3 22q HGNC:54959 CPSF1P2 CPSF1 pseudogene 2 pseudogene pseudogene Approved Xp11.23 Xp11.23 2020-05-07 2020-05-07 100422285 ENSG00000220132 NG_026701 HGNC:2325 CPSF2 cleavage and polyadenylation specific factor 2 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "KIAA1367|CPSF100" "cleavage and polyadenylation specific factor 2, 100kD subunit|cleavage and polyadenylation specific factor 2, 100kDa" "Cleavage and polyadenylation specific factor subunits|MBL fold containing DNA/RNA interacting subfamily" "1450|1615" 2000-05-31 2015-11-09 2023-01-20 53981 ENSG00000165934 OTTHUMG00000171181 uc001yah.3 AB037788 NM_001322270 CCDS9902 Q9P2I0 "7969155|11124543" MGI:1861601 RGD:1309687 606028 HGNC:2325 "ENST00000298875.9|NM_017437.3" HGNC:2326 CPSF3 cleavage and polyadenylation specific factor 3 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "CPSF-73|CPSF73|YSH1" "cleavage and polyadenylation specific factor 3, 73kD subunit|cleavage and polyadenylation specific factor 3, 73kDa" "Cleavage and polyadenylation specific factor subunits|MBL fold containing DNA/RNA interacting subfamily|Endoribonucleases" "1450|1615|1687" 2000-05-31 2015-11-09 2023-01-20 51692 ENSG00000119203 OTTHUMG00000090415 uc002qzo.3 AF171877 NM_016207 "CCDS1664|CCDS82417" Q9UKF6 8929409 MGI:1859328 RGD:1305767 606029 HGNC:2326 "ENST00000238112.8|NM_016207.4" -HGNC:2327 CPSF4 cleavage and polyadenylation specific factor 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "NAR|CPSF30" "cleavage and polyadenylation specific factor 4, 30kD subunit|cleavage and polyadenylation specific factor 4, 30kDa" Cleavage and polyadenylation specific factor subunits 1450 2000-05-31 2015-11-09 2023-01-20 10898 ENSG00000160917 OTTHUMG00000154599 uc003uqj.4 NM_001081559 "CCDS47652|CCDS5664|CCDS83205" O95639 "9651582|9224719" MGI:1861602 RGD:620440 603052 HGNC:2327 "ENST00000292476.10|NM_006693.4" +HGNC:2327 CPSF4 cleavage and polyadenylation specific factor 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "NAR|CPSF30" "cleavage and polyadenylation specific factor 4, 30kD subunit|cleavage and polyadenylation specific factor 4, 30kDa" Cleavage and polyadenylation specific factor subunits 1450 2000-05-31 2015-11-09 2023-01-20 10898 ENSG00000160917 OTTHUMG00000154599 uc003uqj.4 NM_001081559 "CCDS47652|CCDS83205|CCDS5664" O95639 "9651582|9224719" MGI:1861602 RGD:620440 603052 HGNC:2327 "ENST00000292476.10|NM_006693.4" HGNC:33632 CPSF4L cleavage and polyadenylation specific factor 4 like protein-coding gene gene with protein product Approved 17q25.1 17q25.1 2007-10-18 2016-06-21 2023-01-20 642843 ENSG00000187959 OTTHUMG00000132640 uc010dfk.1 NM_001129885 CCDS45768 A6NMK7 MGI:1277182 RGD:1306397 HGNC:33632 "ENST00000344935.8|NM_001129885.1" HGNC:13871 CPSF6 cleavage and polyadenylation specific factor 6 protein-coding gene gene with protein product Approved 12q15 12q15 "CFIM|HPBRII-4|HPBRII-7|CFIM68|CFIM72" cleavage factor Im complex 68 kDa subunit "cleavage and polyadenylation specific factor 6, 68kD subunit|cleavage and polyadenylation specific factor 6, 68kDa" "RNA binding motif containing|Cleavage factor Im complex subunits" "725|2101" 2001-02-06 2015-11-09 2023-01-20 11052 ENSG00000111605 OTTHUMG00000169340 uc001sut.4 X67336 NM_007007 "CCDS8988|CCDS73494" Q16630 "9659921|17267687" MGI:1913948 RGD:1304640 604979 HGNC:13871 "ENST00000435070.7|NM_007007.3" -HGNC:30098 CPSF7 cleavage and polyadenylation specific factor 7 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "FLJ12529|CFIM59" "pre mRNA cleavage factor I, 59 kDa subunit|cleavage factor Im complex 59 kDa subunit" cleavage and polyadenylation specific factor 7, 59kDa "RNA binding motif containing|Cleavage factor Im complex subunits" "725|2101" 2009-04-21 2015-11-09 2023-01-20 79869 ENSG00000149532 OTTHUMG00000168198 uc001nrq.4 NM_024811 "CCDS8006|CCDS44619|CCDS44620" Q8N684 12477932 MGI:1917826 RGD:1305441 HGNC:30098 "ENST00000439958.8|NM_001142565.3" +HGNC:30098 CPSF7 cleavage and polyadenylation specific factor 7 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "FLJ12529|CFIM59" "pre mRNA cleavage factor I, 59 kDa subunit|cleavage factor Im complex 59 kDa subunit" cleavage and polyadenylation specific factor 7, 59kDa "RNA binding motif containing|Cleavage factor Im complex subunits" "725|2101" 2009-04-21 2015-11-09 2023-01-20 79869 ENSG00000149532 OTTHUMG00000168198 uc001nrq.4 NM_024811 "CCDS44620|CCDS44619|CCDS8006" Q8N684 12477932 MGI:1917826 RGD:1305441 HGNC:30098 "ENST00000439958.8|NM_001142565.3" HGNC:2328 CPT1A carnitine palmitoyltransferase 1A protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "CPT1-L|L-CPT1" CPT1 carnitine palmitoyltransferase 1A (liver) 1995-05-30 2016-02-24 2023-01-20 1374 ENSG00000110090 OTTHUMG00000167892 uc001oog.5 L39211 NM_001876 "CCDS31624|CCDS8185" P50416 "7892212|9070950" MGI:1098296 RGD:2396 600528 120790 2.3.1.21 HGNC:2328 "ENST00000265641.10|NM_001876.4" HGNC:2328 -HGNC:2329 CPT1B carnitine palmitoyltransferase 1B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "M-CPT1|CPT1-M" carnitine O-palmitoyltransferase 1B carnitine palmitoyltransferase 1B (muscle) 1996-08-14 2015-12-04 2023-03-15 1375 ENSG00000205560 OTTHUMG00000137390 uc003bml.4 U62733 NM_152246 "CCDS14098|CCDS46734" Q92523 9070950 MGI:1098297 RGD:2397 601987 2.3.1.21 HGNC:2329 "ENST00000312108.12|NM_152246.3" HGNC:2329 -HGNC:18540 CPT1C carnitine palmitoyltransferase 1C protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ23809|CPTIC|CPT1P|CATL1" 2003-11-27 2023-01-20 126129 ENSG00000169169 OTTHUMG00000183267 uc002ppj.4 AF357970 NM_152359 "CCDS46147|CCDS12779" Q8TCG5 "12376098|11001805" MGI:2446526 RGD:1305384 608846 448705 HGNC:18540 "ENST00000598293.6|NM_001199753.2" HGNC:18540 -HGNC:2330 CPT2 carnitine palmitoyltransferase 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 CPTASE CPT1 carnitine palmitoyltransferase II 1991-05-09 2009-03-04 2023-01-20 1376 ENSG00000157184 OTTHUMG00000008942 uc001cvb.4 BC002445 NM_000098 "CCDS81326|CCDS575" P23786 1339389 MGI:109176 RGD:2398 600650 120795 2.3.1.21 HGNC:2330 "ENST00000371486.4|NM_000098.3" HGNC:2330 +HGNC:2329 CPT1B carnitine palmitoyltransferase 1B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "M-CPT1|CPT1-M" carnitine O-palmitoyltransferase 1B carnitine palmitoyltransferase 1B (muscle) 1996-08-14 2015-12-04 2023-03-15 1375 ENSG00000205560 OTTHUMG00000137390 uc003bml.4 U62733 NM_152246 "CCDS46734|CCDS14098" Q92523 9070950 MGI:1098297 RGD:2397 601987 2.3.1.21 HGNC:2329 "ENST00000312108.12|NM_152246.3" HGNC:2329 +HGNC:18540 CPT1C carnitine palmitoyltransferase 1C protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ23809|CPTIC|CPT1P|CATL1" 2003-11-27 2023-01-20 126129 ENSG00000169169 OTTHUMG00000183267 uc002ppj.4 AF357970 NM_152359 "CCDS12779|CCDS46147" Q8TCG5 "12376098|11001805" MGI:2446526 RGD:1305384 608846 448705 HGNC:18540 "ENST00000598293.6|NM_001199753.2" HGNC:18540 +HGNC:2330 CPT2 carnitine palmitoyltransferase 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 CPTASE CPT1 carnitine palmitoyltransferase II 1991-05-09 2009-03-04 2023-01-20 1376 ENSG00000157184 OTTHUMG00000008942 uc001cvb.4 BC002445 NM_000098 "CCDS575|CCDS81326" P23786 1339389 MGI:109176 RGD:2398 600650 120795 2.3.1.21 HGNC:2330 "ENST00000371486.4|NM_000098.3" HGNC:2330 HGNC:49538 CPT2P1 carnitine palmitoyltransferase 2 pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 2014-01-09 2014-01-09 100420556 NG_027096 PGOHUM00000244726 HGNC:49538 HGNC:28116 CPTP ceramide-1-phosphate transfer protein protein-coding gene gene with protein product Approved 1p36.33 01p36.33 MGC10334 GLTPD1 glycolipid transfer protein domain containing 1 2007-12-19 2014-06-23 2014-06-23 2023-01-20 80772 ENSG00000224051 OTTHUMG00000003171 BC004366 NM_001029885 CCDS30555 Q5TA50 23863933 MGI:1933107 RGD:1359656 615467 HGNC:28116 "ENST00000343938.9|NM_001029885.2" HGNC:14399 CPVL carboxypeptidase vitellogenic like protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "carboxypeptidase WUG|vitellogenic carboxypeptidase-like protein|CP-Mac carboxypeptidase" carboxypeptidase, vitellogenic-like M14 carboxypeptidases 1321 2001-01-12 2019-01-21 2023-01-20 54504 ENSG00000106066 OTTHUMG00000023669 uc003szx.4 AF106704 NM_019029 CCDS5419 Q9H3G5 11401439 MGI:1918537 RGD:1563609 609780 objectId:1583 HGNC:14399 "ENST00000265394.10|NM_031311.5" @@ -5442,7 +5442,7 @@ HGNC:56138 CPVL-AS2 CPVL antisense RNA 2 non-coding RNA RNA, long non-coding App HGNC:2332 CPXCR1 CPX chromosome region candidate 1 protein-coding gene gene with protein product Approved Xq21.31 Xq21.31 CT77 cancer/testis antigen 77 2000-05-02 2019-01-21 2023-01-20 53336 ENSG00000147183 OTTHUMG00000021950 uc004efd.5 AL031116 NM_033048 CCDS14458 Q8N123 11499681 MGI:2685989 RGD:2321886 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CPXCR1 301055 HGNC:2332 "ENST00000276127.9|NM_033048.6" HGNC:15771 CPXM1 carboxypeptidase X, M14 family member 1 protein-coding gene gene with protein product Approved 20p13 20p13 "CPX-1|CPX1" carboxypeptidase-like protein X1 CPXM carboxypeptidase X (M14 family), member 1 M14 carboxypeptidases 1321 2001-09-17 2006-08-24 2016-07-20 2023-01-20 56265 ENSG00000088882 OTTHUMG00000031706 uc002wgu.4 AL035460 NM_019609 CCDS13033 Q96SM3 "14702039|26603934" MGI:1934569 RGD:1306937 609555 M14.952 objectId:1600 HGNC:15771 "ENST00000380605.3|NM_019609.5" HGNC:26977 CPXM2 carboxypeptidase X, M14 family member 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "UNQ676|CPX2" cytosolic carboxypeptidase carboxypeptidase X (M14 family), member 2 M14 carboxypeptidases 1321 2004-07-21 2016-07-20 2023-01-20 119587 ENSG00000121898 OTTHUMG00000019206 uc001lhk.2 AY358565 NM_198148 CCDS7637 Q8N436 12975309 MGI:1926006 RGD:1310955 617348 M14.955 objectId:1601 HGNC:26977 "ENST00000241305.4|NM_198148.3" -HGNC:2333 CPZ carboxypeptidase Z protein-coding gene gene with protein product Approved 4p16.1 04p16.1 metallocarboxypeptidase Z M14 carboxypeptidases 1321 1998-10-16 2023-01-20 8532 ENSG00000109625 OTTHUMG00000090513 uc003glo.4 U83411 NM_003652 "CCDS43212|CCDS3404|CCDS33953" Q66K79 9099699 MGI:88487 RGD:620496 603105 M14.012 objectId:1602 HGNC:2333 "ENST00000360986.9|NM_001014447.3" +HGNC:2333 CPZ carboxypeptidase Z protein-coding gene gene with protein product Approved 4p16.1 04p16.1 metallocarboxypeptidase Z M14 carboxypeptidases 1321 1998-10-16 2023-01-20 8532 ENSG00000109625 OTTHUMG00000090513 uc003glo.4 U83411 NM_003652 "CCDS33953|CCDS3404|CCDS43212" Q66K79 9099699 MGI:88487 RGD:620496 603105 M14.012 objectId:1602 HGNC:2333 "ENST00000360986.9|NM_001014447.3" HGNC:2334 CR1 complement C3b/C4b receptor 1 (Knops blood group) protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "CD35|KN" "complement component (3b/4b) receptor 1, including Knops blood group system|complement component (3b/4b) receptor 1 (Knops blood group)|complement component 3b/4b receptor 1 (Knops blood group)" "Blood group antigens|CD molecules|Sushi domain containing|Complement system regulators and receptors" "454|471|1179|1639" 2001-06-22 2016-08-10 2023-03-15 1378 ENSG00000203710 OTTHUMG00000036311 uc001hfx.4 Y00816 NM_000573 CCDS44308 P17927 1708809 MGI:88513 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_814|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_814.xml" 120620 CD35 HGNC:2334 "ENST00000367049.9|NM_000651.6" HGNC:2335 CR1L complement C3b/C4b receptor 1 like protein-coding gene gene with protein product Approved 1q32.2 01q32.2 complement component (3b/4b) receptor 1-like Sushi domain containing 1179 1989-04-24 2016-08-10 2023-01-20 1379 ENSG00000197721 OTTHUMG00000036354 uc001hga.5 AY114160 NM_175710 CCDS44310 Q2VPA4 2295627 MGI:88513 RGD:2399 605886 HGNC:2335 "ENST00000508064.7|NM_175710.2" HGNC:2336 CR2 complement C3d receptor 2 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "CD21|C3DR" Epstein-Barr virus receptor "complement component (3d/Epstein Barr virus) receptor 2|complement component 3d receptor 2" "CD molecules|Sushi domain containing|Complement system regulators and receptors" "471|1179|1639" 2001-06-22 2016-08-10 2023-01-20 1380 ENSG00000117322 OTTHUMG00000036307 uc001hfv.4 M26004 NM_001877 "CCDS1478|CCDS31007" P20023 MGI:88489 RGD:1310065 LRG_348|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_348.xml 120650 160142 CD21 HGNC:2336 "ENST00000367057.8|NM_001006658.3" HGNC:2336 @@ -5450,41 +5450,41 @@ HGNC:2338 CRABP1 cellular retinoic acid binding protein 1 protein-coding gene ge HGNC:2339 CRABP2 cellular retinoic acid binding protein 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CRABP-II cellular retinoic acid-binding protein 2 Fatty acid binding protein family 550 1992-11-25 2001-11-28 2023-01-20 1382 ENSG00000143320 OTTHUMG00000041300 uc021pbi.2 BC001109 NM_001878 CCDS1152 P29373 1654334 MGI:88491 RGD:62070 180231 objectId:2530 HGNC:2339 "ENST00000368222.8|NM_001878.4" HGNC:29219 CRACD capping protein inhibiting regulator of actin dynamics protein-coding gene gene with protein product Approved 4q12 04q12 CRAD cancer-related regulator of actin dynamics KIAA1211 KIAA1211 2009-02-06 2019-08-15 2019-08-15 2023-01-20 57482 ENSG00000109265 OTTHUMG00000160749 uc003hbk.3 AB033037 NM_020722 CCDS43230 Q6ZU35 "10574462|11230166|30361697" MGI:2444817 RGD:1311575 618327 HGNC:29219 "ENST00000682029.1|NM_001393381.1" HGNC:33454 CRACDL CRACD like protein-coding gene gene with protein product Approved 2q11.2 02q11.2 MGC42367 "C2orf55|KIAA1211L" "chromosome 2 open reading frame 55|KIAA1211 like" 2007-05-08 2020-01-20 2020-01-20 2023-01-20 343990 ENSG00000196872 OTTHUMG00000153171 uc002szf.2 BC068277 NM_207362 CCDS42720 Q6NV74 MGI:1919347 RGD:1310819 HGNC:33454 "ENST00000397899.7|NM_207362.3" -HGNC:28657 CRACR2A calcium release activated channel regulator 2A protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "MGC4266|RAB46" "Ca2+ release-activated Ca2+ (CRAC) channel regulator 2A|CRAC regulator 2A" EFCAB4B EF-hand calcium binding domain 4B EF-hand domain containing 863 2006-03-21 2014-07-02 2014-07-02 2023-03-15 84766 ENSG00000130038 OTTHUMG00000168185 BC004524 NM_032680 "CCDS8522|CCDS44803" Q9BSW2 "20418871|31092558" MGI:2685919 RGD:1563719 614178 HGNC:28657 "ENST00000440314.7|NM_001144958.2" -HGNC:28703 CRACR2B calcium release activated channel regulator 2B protein-coding gene gene with protein product Approved 11p15.5 11p15.5 MGC45840 "Ca2+ release-activated Ca2+ (CRAC) channel regulator 2B|CRAC regulator 2B" EFCAB4A EF-hand calcium binding domain 4A EF-hand domain containing 863 2006-03-21 2014-07-02 2014-07-02 2023-01-20 283229 ENSG00000177685 OTTHUMG00000165267 BC073821 NM_173584 "CCDS41588|CCDS65995" Q8N4Y2 20418871 MGI:2446129 RGD:1560911 614177 HGNC:28703 "ENST00000525077.2|NM_001286606.2" -HGNC:2340 CRADD CASP2 and RIPK1 domain containing adaptor with death domain protein-coding gene gene with protein product Approved 12q22 12q22 RAIDD RIP-associated ICH1/CED3-homologous protein with death domain Caspase recruitment domain containing 959 1999-05-07 2023-01-20 8738 ENSG00000169372 OTTHUMG00000170322 uc001tda.4 U84388 NM_003805 "CCDS81720|CCDS9048|CCDS81719|CCDS81722" P78560 "8985253|9044836" MGI:1336168 RGD:1311010 603454 303823 HGNC:2340 "ENST00000332896.8|NM_003805.5" HGNC:2340 +HGNC:28657 CRACR2A calcium release activated channel regulator 2A protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "MGC4266|RAB46" "Ca2+ release-activated Ca2+ (CRAC) channel regulator 2A|CRAC regulator 2A" EFCAB4B EF-hand calcium binding domain 4B EF-hand domain containing 863 2006-03-21 2014-07-02 2014-07-02 2023-03-15 84766 ENSG00000130038 OTTHUMG00000168185 BC004524 NM_032680 "CCDS44803|CCDS8522" Q9BSW2 "20418871|31092558" MGI:2685919 RGD:1563719 614178 HGNC:28657 "ENST00000440314.7|NM_001144958.2" +HGNC:28703 CRACR2B calcium release activated channel regulator 2B protein-coding gene gene with protein product Approved 11p15.5 11p15.5 MGC45840 "Ca2+ release-activated Ca2+ (CRAC) channel regulator 2B|CRAC regulator 2B" EFCAB4A EF-hand calcium binding domain 4A EF-hand domain containing 863 2006-03-21 2014-07-02 2014-07-02 2023-01-20 283229 ENSG00000177685 OTTHUMG00000165267 BC073821 NM_173584 "CCDS65995|CCDS41588" Q8N4Y2 20418871 MGI:2446129 RGD:1560911 614177 HGNC:28703 "ENST00000525077.2|NM_001286606.2" +HGNC:2340 CRADD CASP2 and RIPK1 domain containing adaptor with death domain protein-coding gene gene with protein product Approved 12q22 12q22 RAIDD RIP-associated ICH1/CED3-homologous protein with death domain Caspase recruitment domain containing 959 1999-05-07 2023-01-20 8738 ENSG00000169372 OTTHUMG00000170322 uc001tda.4 U84388 NM_003805 "CCDS81719|CCDS81722|CCDS9048|CCDS81720" P78560 "8985253|9044836" MGI:1336168 RGD:1311010 603454 303823 HGNC:2340 "ENST00000332896.8|NM_003805.5" HGNC:2340 HGNC:56184 CRADD-AS1 CRADD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q22 12q22 Antisense RNAs 1987 2022-01-17 2022-01-17 101928731 ENSG00000258274 NR_110092 HGNC:56563 CRADDP1 CRADD pseudogene 1 pseudogene pseudogene Approved 3q25.31 03q25.31 2022-11-02 2022-11-02 100422426 ENSG00000239706 NG_025649 PGOHUM00000299243 HGNC:14122 CRAMP1 cramped chromatin regulator homolog 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 KIAA1426 CRAMP1L "Crm (Cramped Drosophila)-like|Crm, cramped-like (Drosophila)" Myb/SANT domain containing 532 2000-12-21 2015-08-20 2015-08-20 2023-01-20 57585 ENSG00000007545 OTTHUMG00000074087 AB037847 NM_020825 CCDS10440 Q96RY5 MGI:1930190 RGD:1311948 HGNC:14122 "ENST00000397412.8|NM_020825.4" -HGNC:2342 CRAT carnitine O-acetyltransferase protein-coding gene gene with protein product Approved 9q34.11 09q34.11 CAT1 carnitine acetyltransferase 1994-07-04 2010-04-27 2023-03-15 1384 ENSG00000095321 OTTHUMG00000147343 uc004bxh.4 X78706 NM_000755 "CCDS94506|CCDS6919|CCDS94505" P43155 7829107 MGI:109501 RGD:1303031 600184 470132 2.3.1.7 HGNC:2342 "ENST00000318080.7|NM_000755.5" HGNC:2342 -HGNC:2343 CRB1 crumbs cell polarity complex component 1 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 LCA8 RP12 "crumbs (Drosophila) homolog 1|crumbs homolog 1 (Drosophila)|crumbs family member 1, photoreceptor morphogenesis associated" Crumbs complex 1223 1999-06-02 2018-11-09 2023-03-15 23418 ENSG00000134376 OTTHUMG00000035663 uc001gtz.4 NM_201253 "CCDS53454|CCDS58052|CCDS58053|CCDS1390" P82279 "10373321|10508521" MGI:2136343 RGD:1309947 Mutations of the Human Crumbs Homologue 1|http://www.retina-international.org/files/sci-news/crb1mut.htm 604210 120803 HGNC:2343 "ENST00000367400.8|NM_201253.3" HGNC:2343 +HGNC:2342 CRAT carnitine O-acetyltransferase protein-coding gene gene with protein product Approved 9q34.11 09q34.11 CAT1 carnitine acetyltransferase 1994-07-04 2010-04-27 2023-03-15 1384 ENSG00000095321 OTTHUMG00000147343 uc004bxh.4 X78706 NM_000755 "CCDS94505|CCDS94506|CCDS6919" P43155 7829107 MGI:109501 RGD:1303031 600184 470132 2.3.1.7 HGNC:2342 "ENST00000318080.7|NM_000755.5" HGNC:2342 +HGNC:2343 CRB1 crumbs cell polarity complex component 1 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 LCA8 RP12 "crumbs (Drosophila) homolog 1|crumbs homolog 1 (Drosophila)|crumbs family member 1, photoreceptor morphogenesis associated" Crumbs complex 1223 1999-06-02 2018-11-09 2023-03-15 23418 ENSG00000134376 OTTHUMG00000035663 uc001gtz.4 NM_201253 "CCDS53454|CCDS1390|CCDS58052|CCDS58053" P82279 "10373321|10508521" MGI:2136343 RGD:1309947 Mutations of the Human Crumbs Homologue 1|http://www.retina-international.org/files/sci-news/crb1mut.htm 604210 120803 HGNC:2343 "ENST00000367400.8|NM_201253.3" HGNC:2343 HGNC:18688 CRB2 crumbs cell polarity complex component 2 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "FLJ38464|FLJ16786" "crumbs homolog 2 (Drosophila)|crumbs family member 2" Crumbs complex 1223 2004-03-19 2018-11-09 2023-01-20 286204 ENSG00000148204 OTTHUMG00000020638 uc004bnx.3 AK095783 NM_173689 CCDS6852 Q5IJ48 14767562 MGI:2679260 RGD:1309368 609720 422255 HGNC:18688 "ENST00000373631.8|NM_173689.7" HGNC:18688 HGNC:20237 CRB3 crumbs cell polarity complex component 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC17303 "crumbs homolog 3 (Drosophila)|crumbs family member 3" Crumbs complex 1223 2003-01-10 2018-11-09 2023-01-20 92359 ENSG00000130545 OTTHUMG00000181828 uc002mfa.4 AF503290 NM_139161 "CCDS12167|CCDS12166" Q9BUF7 MGI:2670904 RGD:1565035 609737 HGNC:20237 "ENST00000600229.6|NM_139161.5" HGNC:49684 CRB3P1 crumbs cell polarity complex component 3 pseudogene 1 pseudogene pseudogene Approved 3p26.3 03p26.3 crumbs family member 3 pseudogene 1 2014-02-06 2016-02-22 2016-02-22 106480279 ENSG00000232563 OTTHUMG00000154882 NG_047144 PGOHUM00000237519 HGNC:49684 HGNC:30185 CRBN cereblon protein-coding gene gene with protein product Approved 3p26.2 03p26.2 MRT2 MRT2A mental retardation, non-syndromic, autosomal recessive, 2A 2004-05-19 2023-01-20 51185 ENSG00000113851 OTTHUMG00000090261 uc003bpq.4 BC017419 NM_016302 "CCDS54547|CCDS2562" Q96SW2 15557513 MGI:1913277 RGD:1310533 609262 120811 objectId:3086 HGNC:30185 "ENST00000231948.9|NM_016302.4" HGNC:30185 -HGNC:17888 CRCP CGRP receptor component protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "CGRP-RCP|RCP|RCP9|C17|POLR3I" calcitonin gene-related peptide-receptor component protein RNA polymerase subunits 726 2008-11-28 2023-01-20 27297 ENSG00000241258 OTTHUMG00000129519 uc003tus.4 AF073792 NM_014478 "CCDS5532|CCDS47599|CCDS47600|CCDS55116" O75575 "8622957|10067875|12482973" MGI:1100818 RGD:620753 606121 HGNC:17888 "ENST00000395326.8|NM_014478.5" +HGNC:17888 CRCP CGRP receptor component protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "CGRP-RCP|RCP|RCP9|C17|POLR3I" calcitonin gene-related peptide-receptor component protein RNA polymerase subunits 726 2008-11-28 2023-01-20 27297 ENSG00000241258 OTTHUMG00000129519 uc003tus.4 AF073792 NM_014478 "CCDS55116|CCDS47600|CCDS47599|CCDS5532" O75575 "8622957|10067875|12482973" MGI:1100818 RGD:620753 606121 HGNC:17888 "ENST00000395326.8|NM_014478.5" HGNC:29875 CRCT1 cysteine rich C-terminal 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 NICE-1 C1orf42 "chromosome 1 open reading frame 42|cysteine-rich C-terminal 1" 2004-09-14 2006-12-18 2015-11-05 2023-01-20 54544 ENSG00000169509 OTTHUMG00000012391 uc001ezz.4 AJ243662 NM_019060 CCDS1012 Q9UGL9 11230159 MGI:1921425 RGD:1588886 617426 HGNC:29875 "ENST00000368790.4|NM_019060.3" HGNC:2345 CREB1 cAMP responsive element binding protein 1 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 Basic leucine zipper proteins 506 1990-02-05 2023-01-20 1385 ENSG00000118260 OTTHUMG00000132936 uc002vcc.4 M27691 NM_134442 "CCDS2374|CCDS2375" P16220 MGI:88494 RGD:620218 CREB1 123810 246689 HGNC:2345 "ENST00000353267.8|NM_004379.5" HGNC:2347 CREB3 cAMP responsive element binding protein 3 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "LZIP|Luman|sLZIP" small leucine zipper protein cAMP responsive element binding protein 3 (luman) "MicroRNA protein coding host genes|CREB3 transcription factor family" "1691|1970" 1999-10-13 2003-11-06 2023-01-20 10488 ENSG00000107175 OTTHUMG00000019872 uc003zxv.4 AF211848 NM_006368 CCDS6588 O43889 9271389 MGI:99946 RGD:1308831 606443 HGNC:2347 "ENST00000353704.3|NM_006368.5" HGNC:18856 CREB3L1 cAMP responsive element binding protein 3 like 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 OASIS "BBF-2 homolog (drosophila)|old astrocyte specifically induced substance" CREB3 transcription factor family 1970 2003-12-09 2016-06-01 2023-01-20 90993 ENSG00000157613 OTTHUMG00000166423 uc021qik.3 NM_052854 CCDS53620 Q96BA8 MGI:1347062 RGD:1359613 CREB3L1 616215 209329 HGNC:18856 "ENST00000621158.5|NM_052854.4" HGNC:18856 HGNC:23720 CREB3L2 cAMP responsive element binding protein 3 like 2 protein-coding gene gene with protein product Approved 7q33 07q33 "BBF2H7|TCAG_1951439" CREB3 transcription factor family 1970 2003-12-09 2016-06-01 2023-01-20 64764 ENSG00000182158 OTTHUMG00000155744 uc003vtw.4 AJ549092 NM_194071 "CCDS34760|CCDS59083" Q70SY1 MGI:2442695 RGD:1306040 CREB3L2 608834 209325 HGNC:23720 "ENST00000330387.11|NM_194071.4" HGNC:41030 CREB3L2-AS1 CREB3L2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q33 07q33 Antisense RNAs 1987 2019-05-17 2019-05-17 100130880 ENSG00000237243 NR_161346 HGNC:41030 -HGNC:18855 CREB3L3 cAMP responsive element binding protein 3 like 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CREB-H|CREBH" cAMP-responsive element-binding protein, hepatic-specific CREB3 transcription factor family 1970 2003-12-09 2016-06-01 2023-01-20 84699 ENSG00000060566 OTTHUMG00000181846 uc002lzl.4 NM_032607 "CCDS12121|CCDS62500|CCDS62499|CCDS62498" Q68CJ9 11353085 MGI:2384786 RGD:1308152 611998 317857 HGNC:18855 "ENST00000078445.7|NM_032607.3" HGNC:18855 -HGNC:18854 CREB3L4 cAMP responsive element binding protein 3 like 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "AIbZIP|CREB4|CREB3|hJAL|ATCE1" CREB3 transcription factor family 1970 2003-12-09 2016-06-01 2023-01-20 148327 ENSG00000143578 OTTHUMG00000037159 uc001fdn.5 AF394167 NM_130898 "CCDS58029|CCDS1056" Q8TEY5 MGI:1916603 RGD:1359278 607138 HGNC:18854 "ENST00000368607.8|NM_001255978.2" -HGNC:16844 CREB5 cAMP responsive element binding protein 5 protein-coding gene gene with protein product Approved 7p15.1-p14.3 07p15.1-p14.3 "H_GS165L15.1|CRE-BPA" cAMP response element binding protein CRE-Bpa Basic leucine zipper proteins 506 2003-09-04 2023-01-20 9586 ENSG00000146592 OTTHUMG00000097081 uc003szq.3 L05515 NM_004904 "CCDS43563|CCDS5418|CCDS43562|CCDS5417" Q02930 "8378084|8440710" MGI:2443973 RGD:1566107 618262 HGNC:16844 "ENST00000357727.7|NM_182898.4" -HGNC:2348 CREBBP CREB binding protein protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "RTS|CBP|KAT3A" RSTS Rubinstein-Taybi syndrome "Zinc fingers ZZ-type|Lysine acetyltransferases|Bromodomain containing" "91|486|1232" 1995-01-10 2008-08-01 2023-01-20 1387 ENSG00000005339 OTTHUMG00000129431 uc002cvv.4 U85962 NM_004380 "CCDS45399|CCDS10509" Q92793 8413673 MGI:1098280 RGD:2401 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CREBBP|LRG_1426|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1426.xml" CREBBP 600140 120814 objectId:2734 HGNC:2348 "ENST00000262367.10|NM_004380.3" HGNC:2348 +HGNC:18855 CREB3L3 cAMP responsive element binding protein 3 like 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CREB-H|CREBH" cAMP-responsive element-binding protein, hepatic-specific CREB3 transcription factor family 1970 2003-12-09 2016-06-01 2023-01-20 84699 ENSG00000060566 OTTHUMG00000181846 uc002lzl.4 NM_032607 "CCDS62500|CCDS12121|CCDS62499|CCDS62498" Q68CJ9 11353085 MGI:2384786 RGD:1308152 611998 317857 HGNC:18855 "ENST00000078445.7|NM_032607.3" HGNC:18855 +HGNC:18854 CREB3L4 cAMP responsive element binding protein 3 like 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "AIbZIP|CREB4|CREB3|hJAL|ATCE1" CREB3 transcription factor family 1970 2003-12-09 2016-06-01 2023-01-20 148327 ENSG00000143578 OTTHUMG00000037159 uc001fdn.5 AF394167 NM_130898 "CCDS1056|CCDS58029" Q8TEY5 MGI:1916603 RGD:1359278 607138 HGNC:18854 "ENST00000368607.8|NM_001255978.2" +HGNC:16844 CREB5 cAMP responsive element binding protein 5 protein-coding gene gene with protein product Approved 7p15.1-p14.3 07p15.1-p14.3 "H_GS165L15.1|CRE-BPA" cAMP response element binding protein CRE-Bpa Basic leucine zipper proteins 506 2003-09-04 2023-01-20 9586 ENSG00000146592 OTTHUMG00000097081 uc003szq.3 L05515 NM_004904 "CCDS43563|CCDS43562|CCDS5418|CCDS5417" Q02930 "8378084|8440710" MGI:2443973 RGD:1566107 618262 HGNC:16844 "ENST00000357727.7|NM_182898.4" +HGNC:2348 CREBBP CREB binding protein protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "RTS|CBP|KAT3A" RSTS Rubinstein-Taybi syndrome "Zinc fingers ZZ-type|Lysine acetyltransferases|Bromodomain containing" "91|486|1232" 1995-01-10 2008-08-01 2023-01-20 1387 ENSG00000005339 OTTHUMG00000129431 uc002cvv.4 U85962 NM_004380 "CCDS10509|CCDS45399" Q92793 8413673 MGI:1098280 RGD:2401 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CREBBP|LRG_1426|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1426.xml" CREBBP 600140 120814 objectId:2734 HGNC:2348 "ENST00000262367.10|NM_004380.3" HGNC:2348 HGNC:2350 CREBL2 cAMP responsive element binding protein like 2 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 cAMP responsive element binding protein-like 2 Basic leucine zipper proteins 506 1998-02-09 2016-03-08 2023-01-20 1389 ENSG00000111269 OTTHUMG00000168704 uc001rap.3 AF039081 NM_001310 CCDS8651 O60519 9693048 MGI:1889385 RGD:1309502 603476 HGNC:2350 "ENST00000228865.3|NM_001310.4" HGNC:24050 CREBRF CREB3 regulatory factor protein-coding gene gene with protein product Approved 5q35.1 05q35.1 LRF luman/CREB3 recruitment factor C5orf41 chromosome 5 open reading frame 41 2007-11-27 2012-03-06 2012-03-06 2023-01-20 153222 ENSG00000164463 OTTHUMG00000163322 uc003mch.4 AY139008 NM_153607 "CCDS34293|CCDS54948" Q8IUR6 18391022 MGI:1924378 RGD:1310862 617109 HGNC:24050 "ENST00000296953.6|NM_153607.3" HGNC:24050 HGNC:24905 CREBZF CREB/ATF bZIP transcription factor protein-coding gene gene with protein product Approved 11q14.1 11q14.1 ZF Zhangfei Basic leucine zipper proteins 506 2006-11-13 2023-03-15 58487 ENSG00000137504 OTTHUMG00000133648 uc001pas.3 AF039942 NM_001039618 CCDS41697 Q9NS37 10871379 MGI:2675296 RGD:1565584 606444 HGNC:24905 "ENST00000527447.2|NM_001039618.4" HGNC:2351 CREG1 cellular repressor of E1A stimulated genes 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 CREG cellular repressor of E1A-stimulated genes 1999-06-24 2004-09-22 2016-01-07 2023-01-20 8804 ENSG00000143162 OTTHUMG00000034682 uc001gel.4 AF084523 NM_003851 CCDS1262 O75629 9710587 MGI:1344382 RGD:1306804 618055 HGNC:2351 "ENST00000370509.5|NM_003851.3" HGNC:14272 CREG2 cellular repressor of E1A stimulated genes 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 2004-01-13 2016-01-07 2023-01-20 200407 ENSG00000175874 OTTHUMG00000130692 uc002tba.3 AB046109 NM_153836 CCDS2052 Q8IUH2 12408961 MGI:1928333 RGD:1564056 618540 HGNC:14272 "ENST00000324768.6|NM_153836.4" -HGNC:14630 CRELD1 cysteine rich with EGF like domains 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 CIRRIN AVSD2 atrioventricular septal defect 2 2001-02-16 2016-01-21 2023-01-20 78987 ENSG00000163703 OTTHUMG00000128653 uc003buh.3 AF452623 NM_015513 "CCDS93208|CCDS2593|CCDS93207|CCDS33693|CCDS93206" Q96HD1 "10922384|12137942|30407909" MGI:2152539 RGD:1309412 607170 120819 HGNC:14630 "ENST00000452070.6|NM_001077415.3" HGNC:14630 -HGNC:28150 CRELD2 cysteine rich with EGF like domains 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 MGC11256 "cysteine-rich with EGF-like domains 2|cysteine rich with EGF-like domains 2" 2005-12-08 2016-01-21 2023-01-20 79174 ENSG00000184164 OTTHUMG00000150292 uc003bja.4 BC050675 NM_024324 "CCDS63516|CCDS46730|CCDS63515|CCDS14082" Q6UXH1 "12137942|16238698" MGI:1923987 RGD:1310614 607171 HGNC:28150 "ENST00000328268.9|NM_024324.5" -HGNC:2352 CREM cAMP responsive element modulator protein-coding gene gene with protein product Approved 10p11.21 10p11.21 hCREM-2 Basic leucine zipper proteins 506 1994-06-17 2023-01-20 1390 ENSG00000095794 OTTHUMG00000017953 uc001iyb.4 NM_001881 "CCDS53519|CCDS7188|CCDS53522|CCDS53520|CCDS7187|CCDS7186|CCDS31181|CCDS7183|CCDS53523|CCDS53517|CCDS7185|CCDS58074|CCDS53521|CCDS58075|CCDS53518|CCDS7180|CCDS7182|CCDS7184|CCDS58076|CCDS7181" Q03060 "1461747|7916662" MGI:88495 RGD:2402 123812 HGNC:2352 "ENST00000685392.1|NM_183011.2" +HGNC:14630 CRELD1 cysteine rich with EGF like domains 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 CIRRIN AVSD2 atrioventricular septal defect 2 2001-02-16 2016-01-21 2023-01-20 78987 ENSG00000163703 OTTHUMG00000128653 uc003buh.3 AF452623 NM_015513 "CCDS2593|CCDS93208|CCDS93207|CCDS93206|CCDS33693" Q96HD1 "10922384|12137942|30407909" MGI:2152539 RGD:1309412 607170 120819 HGNC:14630 "ENST00000452070.6|NM_001077415.3" HGNC:14630 +HGNC:28150 CRELD2 cysteine rich with EGF like domains 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 MGC11256 "cysteine-rich with EGF-like domains 2|cysteine rich with EGF-like domains 2" 2005-12-08 2016-01-21 2023-01-20 79174 ENSG00000184164 OTTHUMG00000150292 uc003bja.4 BC050675 NM_024324 "CCDS46730|CCDS63516|CCDS14082|CCDS63515" Q6UXH1 "12137942|16238698" MGI:1923987 RGD:1310614 607171 HGNC:28150 "ENST00000328268.9|NM_024324.5" +HGNC:2352 CREM cAMP responsive element modulator protein-coding gene gene with protein product Approved 10p11.21 10p11.21 hCREM-2 Basic leucine zipper proteins 506 1994-06-17 2023-01-20 1390 ENSG00000095794 OTTHUMG00000017953 uc001iyb.4 NM_001881 "CCDS53517|CCDS53518|CCDS58076|CCDS58075|CCDS53523|CCDS7186|CCDS58074|CCDS7187|CCDS53521|CCDS7183|CCDS7184|CCDS7181|CCDS31181|CCDS7182|CCDS7188|CCDS53522|CCDS53520|CCDS7180|CCDS7185|CCDS53519" Q03060 "1461747|7916662" MGI:88495 RGD:2402 123812 HGNC:2352 "ENST00000685392.1|NM_183011.2" HGNC:2355 CRH corticotropin releasing hormone protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "CRF|CRH1" "corticotropin-releasing factor|corticoliberin" Neuropeptides 1902 1988-08-31 2023-01-20 1392 ENSG00000147571 OTTHUMG00000164474 uc003xvy.3 NM_000756 CCDS6188 P06850 25521515 MGI:88496 RGD:620505 122560 394137 ligandId:912 HGNC:2355 "ENST00000276571.5|NM_000756.4" HGNC:2355 HGNC:2356 CRHBP corticotropin releasing hormone binding protein protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "CRF-BP|CRFBP" corticotropin releasing hormone-binding protein 1991-08-07 2001-11-28 2023-01-20 1393 ENSG00000145708 OTTHUMG00000102133 uc003ker.4 X58022 NM_001882 CCDS4034 P24387 8198617 MGI:88497 RGD:2403 122559 HGNC:2356 "ENST00000274368.9|NM_001882.4" -HGNC:2357 CRHR1 corticotropin releasing hormone receptor 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CRF-R|CRF1" corticotropin-releasing factor receptor CRHR Corticotropin releasing hormone receptors 266 1993-12-13 2023-03-15 1394 ENSG00000120088 OTTHUMG00000178271 uc002ijm.4 L23332 NM_001145146 "CCDS45713|CCDS42350|CCDS45712|CCDS45714" P34998 7590738 MGI:88498 RGD:61276 122561 objectId:212 HGNC:2357 "ENST00000314537.10|NM_004382.5" -HGNC:2358 CRHR2 corticotropin releasing hormone receptor 2 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "CRF2|CRF-RB|HM-CRF" Corticotropin releasing hormone receptors 266 1996-12-18 2023-01-20 1395 ENSG00000106113 OTTHUMG00000023218 uc003tbn.4 NM_001202475 "CCDS75576|CCDS56478|CCDS5429|CCDS56477" Q13324 8536644 MGI:894312 RGD:70547 602034 objectId:213 HGNC:2358 "ENST00000471646.6|NM_001883.5" +HGNC:2357 CRHR1 corticotropin releasing hormone receptor 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CRF-R|CRF1" corticotropin-releasing factor receptor CRHR Corticotropin releasing hormone receptors 266 1993-12-13 2023-03-15 1394 ENSG00000120088 OTTHUMG00000178271 uc002ijm.4 L23332 NM_001145146 "CCDS45714|CCDS42350|CCDS45712|CCDS45713" P34998 7590738 MGI:88498 RGD:61276 122561 objectId:212 HGNC:2357 "ENST00000314537.10|NM_004382.5" +HGNC:2358 CRHR2 corticotropin releasing hormone receptor 2 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "CRF2|CRF-RB|HM-CRF" Corticotropin releasing hormone receptors 266 1996-12-18 2023-01-20 1395 ENSG00000106113 OTTHUMG00000023218 uc003tbn.4 NM_001202475 "CCDS5429|CCDS75576|CCDS56477|CCDS56478" Q13324 8536644 MGI:894312 RGD:70547 602034 objectId:213 HGNC:2358 "ENST00000471646.6|NM_001883.5" HGNC:2359 CRIM1 cysteine rich transmembrane BMP regulator 1 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 S52 "cysteine-rich motor neuron 1|cysteine rich transmembrane BMP regulator 1 (chordin-like)" Cysteine rich transmembrane BMP regulators 1660 1999-07-22 2016-06-10 2023-01-20 51232 ENSG00000150938 OTTHUMG00000099419 uc002rpd.4 AF168681 NM_016441 CCDS1783 Q9NZV1 10642437 MGI:1354756 RGD:1308710 606189 476789 HGNC:2359 "ENST00000280527.7|NM_016441.3" HGNC:2359 HGNC:54057 CRIM1-DT CRIM1 divergent transcript non-coding RNA RNA, long non-coding Approved 2p22.2 02p22.2 Divergent transcripts 1990 2018-09-27 2018-09-27 100288911 ENSG00000260025 NR_037631 HGNC:54057 HGNC:2360 CRIP1 cysteine rich protein 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 CRIP cysteine-rich protein 1 (intestinal) LIM domain containing 1218 1995-12-11 2016-01-28 2023-01-20 1396 ENSG00000213145 OTTHUMG00000029908 uc059gbj.1 NM_001311 CCDS10004 P50238 9480758 MGI:88501 RGD:1597237 123875 HGNC:2360 "ENST00000392531.4|NM_001311.5" @@ -5495,7 +5495,7 @@ HGNC:44519 CRIP1P4 cysteine rich protein 1 pseudogene 4 pseudogene pseudogene Ap HGNC:2361 CRIP2 cysteine rich protein 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "CRP2|ESP1" LIM domain containing 1218 1997-06-18 2016-01-28 2023-01-20 1397 ENSG00000182809 OTTHUMG00000029906 uc001yrd.3 NM_001312 "CCDS59246|CCDS10003" P52943 "8843343|10681529" MGI:1915587 RGD:1302959 601183 HGNC:2361 "ENST00000329146.9|NM_001312.4" HGNC:17751 CRIP3 cysteine rich protein 3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TLP-A|bA480N24.2|TLP" LIM domain containing 1218 2003-11-26 2016-01-28 2023-01-20 401262 ENSG00000146215 OTTHUMG00000014727 uc003ouu.2 AY555741 NM_001366068 CCDS4894 Q6Q6R5 15380775 MGI:2152434 RGD:1565018 HGNC:17751 "ENST00000372569.8|NM_206922.3" HGNC:14312 CRIPT CXXC repeat containing interactor of PDZ3 domain protein-coding gene gene with protein product Approved 2p21 02p21 HSPC139 cysteine-rich PDZ-binding protein 2006-06-22 2016-01-28 2023-01-20 9419 ENSG00000119878 OTTHUMG00000128815 uc002rve.5 AA165108 NM_014171 CCDS1829 Q9P021 "16091592|11744724|10570482|9581762" MGI:1929655 RGD:621545 604594 HGNC:14312 "ENST00000238892.4|NM_014171.6" HGNC:14312 -HGNC:11701 CRIPTO cripto, EGF-CFC family member protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CR|Cripto-1|CR-1" TDGF1 teratocarcinoma-derived growth factor 1 1990-08-02 2023-06-01 2023-06-01 2023-06-01 6997 ENSG00000241186 OTTHUMG00000191661 uc003cpv.4 M96955 NM_003212 "CCDS54575|CCDS2742" P13385 "1882841|10393436" MGI:98658 RGD:1594185 187395 138518 HGNC:11701 "ENST00000296145.6|NM_003212.4" +HGNC:11701 CRIPTO cripto, EGF-CFC family member protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CR|Cripto-1|CR-1" TDGF1 teratocarcinoma-derived growth factor 1 1990-08-02 2023-06-01 2023-06-01 2023-06-01 6997 ENSG00000241186 OTTHUMG00000191661 uc003cpv.4 M96955 NM_003212 "CCDS2742|CCDS54575" P13385 "1882841|10393436" MGI:98658 RGD:1594185 187395 138518 HGNC:11701 "ENST00000296145.6|NM_003212.4" HGNC:11703 CRIPTO3 cripto, EGF-CFC family member 3 protein-coding gene gene with protein product Approved Xq23 Xq23 "TDGF2|CR-3|CRIPTO-3" "TDGF3|TDGF1P3" "teratocarcinoma-derived growth factor 3, pseudogene|teratocarcinoma-derived growth factor 1 pseudogene 3" 1990-08-02 2023-06-01 2023-06-01 2023-06-01 6998 ENSG00000225366 OTTHUMG00000022195 M96956 NR_002718 CCDS94651 P51864 "1882841|10393436" MGI:98658 HGNC:11703 "ENST00000602699.2|NM_001397362.1" HGNC:42350 CRIPTOP1 CRIPTO pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 TDGF1P1 teratocarcinoma-derived growth factor 1 pseudogene 1 2011-06-24 2023-06-01 2023-06-01 2023-06-01 100421177 ENSG00000227988 OTTHUMG00000024089 NG_026672 PGOHUM00000241237 HGNC:42350 HGNC:11702 CRIPTOP2 CRIPTO pseudogene 2 pseudogene pseudogene Approved 2q36.3 02q36.3 "CR-2|CRIPTO-2" "TDGF2|TDGF1P2" "teratocarcinoma-derived growth factor 2, pseudogene|teratocarcinoma-derived growth factor 1 pseudogene 2" 1999-09-28 2023-06-01 2023-06-01 2023-06-01 22816 ENSG00000183514 OTTHUMG00000153585 Y09998 NG_001244 10393436 PGOHUM00000240543 HGNC:11702 @@ -5505,20 +5505,20 @@ HGNC:11706 CRIPTOP6 CRIPTO pseudogene 6 pseudogene pseudogene Approved 3q22.3 03 HGNC:11707 CRIPTOP7 CRIPTO pseudogene 7 pseudogene pseudogene Approved 19q13.2 19q13.2 "CR-7|CRIPTO-7" "TDGF7|TDGF1P7" "teratocarcinoma-derived growth factor 7, pseudogene|teratocarcinoma-derived growth factor 1 pseudogene 7" 1999-09-28 2023-06-01 2023-06-01 2023-06-01 100129080 ENSG00000269584 OTTHUMG00000183070 NG_012349 10393436 PGOHUM00000295358 HGNC:11707 HGNC:304 CRISP1 cysteine rich secretory protein 1 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "CRISP-1|ARP|HUMARP|HSCRISP1D|HSCRISP1G" AEGL1 acidic epididymal glycoprotein-like 1 Cysteine rich secretory protein family 1355 1995-09-29 2003-09-05 2016-01-28 2023-01-20 167 ENSG00000124812 OTTHUMG00000014827 uc021zaj.2 D38451 NM_001131 "CCDS4931|CCDS4932" P54107 8838800 MGI:1925331 RGD:1590757 601193 HGNC:304 "ENST00000335847.9|NM_001131.3" HGNC:12024 CRISP2 cysteine rich secretory protein 2 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "CRISP-2|CT36" cancer/testis antigen 36 "GAPDL5|TPX1" testis specific protein 1 (probe H4-1 p3-1) Cysteine rich secretory protein family 1355 1989-10-20 2003-09-05 2016-01-28 2023-01-20 7180 ENSG00000124490 OTTHUMG00000014822 uc031sou.1 X95239 NM_003296 CCDS4928 P16562 "2613236|8665901" MGI:98815 RGD:621653 187430 HGNC:12024 "ENST00000339139.5|NM_003296.4" -HGNC:16904 CRISP3 cysteine rich secretory protein 3 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "SGP28|CRISP-3|CRS3|dJ442L6.3|Aeg2" Cysteine rich secretory protein family 1355 2003-09-03 2016-01-28 2023-01-20 10321 ENSG00000096006 OTTHUMG00000014823 uc003ozs.5 X94323 NM_006061 "CCDS55019|CCDS4929|CCDS93932" P54108 "8665901|12223513" MGI:102553 RGD:619846 618062 HGNC:16904 "ENST00000263045.9|NM_006061.4" -HGNC:18206 CRISPLD1 cysteine rich secretory protein LCCL domain containing 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "Cocoacrisp|DKFZp762F133" LCRISP1 LCCL domain containing cysteine-rich secretory protein 1 2005-02-11 2005-02-16 2016-01-28 2023-01-20 83690 ENSG00000121005 OTTHUMG00000164529 uc003yan.5 AL834301 NM_031461 "CCDS69497|CCDS6219|CCDS75754" Q9H336 MGI:1934666 RGD:1564813 HGNC:18206 "ENST00000262207.9|NM_031461.6" +HGNC:16904 CRISP3 cysteine rich secretory protein 3 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "SGP28|CRISP-3|CRS3|dJ442L6.3|Aeg2" Cysteine rich secretory protein family 1355 2003-09-03 2016-01-28 2023-01-20 10321 ENSG00000096006 OTTHUMG00000014823 uc003ozs.5 X94323 NM_006061 "CCDS4929|CCDS93932|CCDS55019" P54108 "8665901|12223513" MGI:102553 RGD:619846 618062 HGNC:16904 "ENST00000263045.9|NM_006061.4" +HGNC:18206 CRISPLD1 cysteine rich secretory protein LCCL domain containing 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "Cocoacrisp|DKFZp762F133" LCRISP1 LCCL domain containing cysteine-rich secretory protein 1 2005-02-11 2005-02-16 2016-01-28 2023-01-20 83690 ENSG00000121005 OTTHUMG00000164529 uc003yan.5 AL834301 NM_031461 "CCDS75754|CCDS69497|CCDS6219" Q9H336 MGI:1934666 RGD:1564813 HGNC:18206 "ENST00000262207.9|NM_031461.6" HGNC:25248 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "DKFZP434B044|LGL1" late gestation lung 1 LCRISP2 LCCL domain containing cysteine-rich secretory protein 2 2005-02-11 2005-02-16 2016-01-28 2023-01-20 83716 ENSG00000103196 OTTHUMG00000137644 uc010voh.2 AL136861 NM_031476 CCDS10949 Q9H0B8 "11230166|27597766" MGI:1926142 RGD:620860 612434 HGNC:25248 "ENST00000262424.10|NM_031476.4" -HGNC:2362 CRK CRK proto-oncogene, adaptor protein protein-coding gene gene with protein product Approved 17p13.3 17p13.3 v-crk avian sarcoma virus CT10 oncogene homolog SH2 domain containing 741 1992-12-07 2016-06-17 2023-01-20 1398 ENSG00000167193 OTTHUMG00000090317 uc002fsl.4 D10656 NM_016823 "CCDS11002|CCDS45561" P46108 1690891 MGI:88508 RGD:2405 164762 HGNC:2362 "ENST00000300574.3|NM_016823.4" +HGNC:2362 CRK CRK proto-oncogene, adaptor protein protein-coding gene gene with protein product Approved 17p13.3 17p13.3 v-crk avian sarcoma virus CT10 oncogene homolog SH2 domain containing 741 1992-12-07 2016-06-17 2023-01-20 1398 ENSG00000167193 OTTHUMG00000090317 uc002fsl.4 D10656 NM_016823 "CCDS45561|CCDS11002" P46108 1690891 MGI:88508 RGD:2405 164762 HGNC:2362 "ENST00000300574.3|NM_016823.4" HGNC:2363 CRKL CRK like proto-oncogene, adaptor protein protein-coding gene gene with protein product Approved 22q11.21 22q11.21 v-crk avian sarcoma virus CT10 oncogene homolog-like SH2 domain containing 741 1994-09-14 2016-06-17 2023-01-20 1399 ENSG00000099942 OTTHUMG00000150807 uc002ztf.2 NM_005207 CCDS13785 P46109 "8361759|8798523" MGI:104686 RGD:1308531 602007 325261 HGNC:2363 "ENST00000354336.8|NM_005207.4" HGNC:2364 CRLF1 cytokine receptor like factor 1 protein-coding gene gene with protein product Approved 19p12 19p12 "CLF-1|CLF|CISS|CISS1" cold-induced sweating syndrome Fibronectin type III domain containing 555 1999-02-26 2016-04-26 2023-01-20 9244 ENSG00000006016 OTTHUMG00000183111 uc010ebt.3 AF059293 NM_004750 CCDS32962 O75462 9686600 MGI:1340030 RGD:1311371 604237 123381 ligandId:4904 HGNC:2364 "ENST00000392386.8|NM_004750.5" HGNC:2364 -HGNC:14281 CRLF2 cytokine receptor like factor 2 protein-coding gene gene with protein product Approved Xp22.3 and Yp11.3 Xp22.3 and Yp11.3 "CRL2|TSLPR" "Fibronectin type III domain containing|Pseudoautosomal region 1" "555|715" 2001-02-06 2017-05-12 2023-01-20 64109 ENSG00000205755 OTTHUMG00000067432 uc065cmw.1 AF142570 NM_022148 "CCDS75945|CCDS75944" Q9HC73 "11237741|11474172" MGI:1889506 RGD:621078 CRLF2 "300357|400023" objectId:1704 HGNC:14281 "ENST00000400841.8|NM_022148.4" +HGNC:14281 CRLF2 cytokine receptor like factor 2 protein-coding gene gene with protein product Approved Xp22.3 and Yp11.3 Xp22.3 and Yp11.3 "CRL2|TSLPR" "Fibronectin type III domain containing|Pseudoautosomal region 1" "555|715" 2001-02-06 2017-05-12 2023-01-20 64109 ENSG00000205755 OTTHUMG00000067432 uc065cmw.1 AF142570 NM_022148 "CCDS75944|CCDS75945" Q9HC73 "11237741|11474172" MGI:1889506 RGD:621078 CRLF2 "300357|400023" objectId:1704 HGNC:14281 "ENST00000400841.8|NM_022148.4" HGNC:17177 CRLF3 cytokine receptor like factor 3 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "CREME9|CYTOR4" cytokine receptor-like factor 3 Fibronectin type III domain containing 555 2001-11-16 2016-03-30 2023-01-20 51379 ENSG00000176390 OTTHUMG00000179005 uc002hfr.5 AF120151 NM_015986 CCDS32607 Q8IUI8 MGI:1860086 RGD:621517 LRG_648|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_648.xml 614853 HGNC:17177 "ENST00000324238.7|NM_015986.4" HGNC:54732 CRLF3P1 CRLF3 pseudogene 1 pseudogene pseudogene Approved 2q12.1 02q12.1 2019-12-18 2020-01-21 728815 ENSG00000236596 NG_006659 HGNC:54733 CRLF3P2 CRLF3 pseudogene 2 pseudogene pseudogene Approved 5q21.1 05q21.1 2019-12-18 2020-01-21 285706 ENSG00000250391 NG_002450 HGNC:54742 CRLF3P3 CRLF3 pseudogene 3 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-19 2020-01-21 100124401 ENSG00000228225 NG_006660 HGNC:16148 CRLS1 cardiolipin synthase 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "dJ967N21.6|CLS1|GCD10" GCD10 homolog (S. cerevisiae) C20orf155 chromosome 20 open reading frame 155 2001-07-17 2006-04-04 2006-04-04 2023-01-20 54675 ENSG00000088766 OTTHUMG00000031823 uc002wmn.5 AF241784 NM_019095 "CCDS46578|CCDS13096" Q9UJA2 16547353 MGI:1913836 RGD:1311037 608188 2.7.8.41 HGNC:16148 "ENST00000378863.9|NM_019095.6" HGNC:26393 CRMA cardiomyocyte maturation associated lncRNA non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 "FLJ30313|CARMA" CARdiomyocyte Maturation-Associated lncRNA "C20orf200|NCRNA00335|C20orf166-AS1|MIR1-1HG-AS1" "chromosome 20 open reading frame 200|non-protein coding RNA 335|C20orf166 antisense RNA 1 (non-protein coding)|C20orf166 antisense RNA 1|MIR1-1HG antisense RNA 1" Long non-coding RNAs with non-systematic symbols 1992 2007-07-10 2021-09-27 2021-09-27 2023-03-15 253868 ENSG00000174403 OTTHUMG00000048002 uc002ycy.5 AK054875 NR_033263 34459880 C20orf166-AS1 HGNC:26393 -HGNC:2365 CRMP1 collapsin response mediator protein 1 protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "DRP-1|DPYSL1" M38 metallopeptidases 1446 1997-01-16 2023-01-20 1400 ENSG00000072832 OTTHUMG00000125489 uc003gis.5 D78012 NM_001313 "CCDS33950|CCDS43207|CCDS75102" Q14194 8973361 MGI:107793 RGD:2407 602462 M38.974 HGNC:2365 "ENST00000324989.12|NM_001014809.3" +HGNC:2365 CRMP1 collapsin response mediator protein 1 protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "DRP-1|DPYSL1" M38 metallopeptidases 1446 1997-01-16 2023-01-20 1400 ENSG00000072832 OTTHUMG00000125489 uc003gis.5 D78012 NM_001313 "CCDS43207|CCDS75102|CCDS33950" Q14194 8973361 MGI:107793 RGD:2407 602462 M38.974 HGNC:2365 "ENST00000324989.12|NM_001014809.3" HGNC:37078 CRNDE colorectal neoplasia differentially expressed non-coding RNA RNA, long non-coding Approved 16q12.2 16q12.2 "LOC643911|LINC00180|CRNDEP" long intergenic non-protein coding RNA 180 colorectal neoplasia differentially expressed (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2009-06-23 2017-01-19 2022-04-06 643911 ENSG00000245694 OTTHUMG00000172236 uc010vhb.5 NR_034105 "23226159|24381249|25978564" MGI:1918546 615624 crnde HGNC:37078 HGNC:15762 CRNKL1 crooked neck pre-mRNA splicing factor 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "CRN|CLF|SYF3|Clf1" SYF3 pre-mRNA-splicing factor "crooked neck (Drosophila Crn homolog)-like 1|Crn, crooked neck-like 1 (Drosophila)|crooked neck pre-mRNA splicing factor-like 1 (Drosophila)" "Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1507|1508|1510|1516" 2001-05-31 2013-10-03 2023-01-20 51340 ENSG00000101343 OTTHUMG00000032000 uc061vse.1 AF255443 NM_001278625 "CCDS63239|CCDS63238|CCDS33446" Q9BZJ0 MGI:1914127 RGD:620507 610952 HGNC:15762 "ENST00000536226.2|NM_001278628.2" HGNC:1230 CRNN cornulin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 SEP53 C1orf10 chromosome 1 open reading frame 10 "EF-hand domain containing|S100 fused type protein family" "863|1350" 2000-03-15 2005-06-13 2005-06-13 2023-01-20 49860 ENSG00000143536 OTTHUMG00000012383 uc001ezx.3 AF077831 NM_016190 CCDS1010 Q9UBG3 "11056050|15854041" MGI:2685861 RGD:1311778 611312 HGNC:1230 "ENST00000271835.3|NM_016190.3" @@ -5529,15 +5529,15 @@ HGNC:28170 CROCCP2 CROCC pseudogene 2 pseudogene pseudogene Approved 1p36.13 01p HGNC:29405 CROCCP3 CROCC pseudogene 3 pseudogene pseudogene Approved 1p36.13 01p36.13 KIAA1922 CROCCL2 "ciliary rootlet coiled-coil, rootletin-like 2|ciliary rootlet coiled-coil, rootletin pseudogene 3" 2007-08-14 2010-07-08 2019-01-21 2019-01-21 114819 ENSG00000080947 OTTHUMG00000037885 AB067509 XM_057040 Q8IVE0 11572484 PGOHUM00000243914 HGNC:29405 HGNC:43864 CROCCP4 CROCC pseudogene 4 pseudogene pseudogene Approved 1p36.13 01p36.13 ciliary rootlet coiled-coil, rootletin pseudogene 4 2012-04-04 2019-01-21 2019-01-21 100421113 ENSG00000227684 OTTHUMG00000057485 NG_027067 PGOHUM00000244623 HGNC:43864 HGNC:43865 CROCCP5 CROCC pseudogene 5 pseudogene pseudogene Approved 1p36.12 01p36.12 ciliary rootlet coiled-coil, rootletin pseudogene 5 2012-04-04 2019-01-21 2019-01-21 100421114 ENSG00000186543 OTTHUMG00000002943 NG_027071 PGOHUM00000264165 HGNC:43865 -HGNC:2366 CROT carnitine O-octanoyltransferase protein-coding gene gene with protein product Approved 7q21.12 07q21.12 COT 2000-06-29 2023-01-20 54677 ENSG00000005469 OTTHUMG00000023653 uc003uit.4 NM_021151 "CCDS59062|CCDS5604|CCDS47634" Q9UKG9 10486279 MGI:1921364 RGD:70908 606090 2.3.1.137 HGNC:2366 "ENST00000331536.8|NM_021151.4" -HGNC:2367 CRP C-reactive protein protein-coding gene gene with protein product Approved 1q23.2 01q23.2 PTX1 pentraxin 1 C-reactive protein, pentraxin-related Short pentraxins 1143 2001-06-22 2016-08-18 2023-01-20 1401 ENSG00000132693 OTTHUMG00000035344 uc001ftw.3 M11725 NM_000567 "CCDS91082|CCDS30911|CCDS86024" P02741 "3840479|6857266" MGI:88512 RGD:2411 123260 HGNC:2367 "ENST00000255030.9|NM_000567.3" +HGNC:2366 CROT carnitine O-octanoyltransferase protein-coding gene gene with protein product Approved 7q21.12 07q21.12 COT 2000-06-29 2023-01-20 54677 ENSG00000005469 OTTHUMG00000023653 uc003uit.4 NM_021151 "CCDS5604|CCDS47634|CCDS59062" Q9UKG9 10486279 MGI:1921364 RGD:70908 606090 2.3.1.137 HGNC:2366 "ENST00000331536.8|NM_021151.4" +HGNC:2367 CRP C-reactive protein protein-coding gene gene with protein product Approved 1q23.2 01q23.2 PTX1 pentraxin 1 C-reactive protein, pentraxin-related Short pentraxins 1143 2001-06-22 2016-08-18 2023-01-20 1401 ENSG00000132693 OTTHUMG00000035344 uc001ftw.3 M11725 NM_000567 "CCDS91082|CCDS86024|CCDS30911" P02741 "3840479|6857266" MGI:88512 RGD:2411 123260 HGNC:2367 "ENST00000255030.9|NM_000567.3" HGNC:2368 CRPP1 C-reactive protein pseudogene 1 pseudogene pseudogene Approved 1q23.2 01q23.2 2001-06-22 2014-11-19 171422 ENSG00000223603 OTTHUMG00000035345 NG_001016 PGOHUM00000244305 HGNC:2368 HGNC:37276 CRPPA CDP-L-ribitol pyrophosphorylase A protein-coding gene gene with protein product Approved 7p21.2 07p21.2 "hCG_1745121|IspD|Nip" "notch1-induced protein|4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)|D-ribitol-5-phosphate cytidylyltransferase" ISPD isoprenoid synthase domain containing 2009-10-02 2019-01-11 2019-01-11 2023-03-15 729920 ENSG00000214960 OTTHUMG00000152447 uc010ktx.2 AK124805 NM_001101426 A4D126 "11181995|27194101|28810660" MGI:1923097 RGD:1359368 614631 302938 2.7.7.40 HGNC:37276 "ENST00000407010.7|NM_001101426.4" HGNC:37276 HGNC:48962 CRPPA-AS1 CRPPA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p21.2 07p21.2 ISPD-AS1 ISPD antisense RNA 1 Antisense RNAs 1987 2013-07-23 2019-01-11 2019-01-11 2019-01-11 100506025 ENSG00000229688 OTTHUMG00000152466 NR_038946 ISPD-AS1 HGNC:48962 HGNC:2374 CRSP5 cofactor required for Sp1 transcriptional activation subunit 5 other unknown Approved reserved reserved CRSP85 cofactor required for Sp1 transcriptional activation, subunit 5 (85kD) 1999-07-21 2018-03-22 2019-06-20 10688 10377381 -HGNC:14882 CRTAC1 cartilage acidic protein 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "FLJ10320|CEP-68|ASPIC1" 2001-05-11 2023-01-20 55118 ENSG00000095713 OTTHUMG00000018871 uc001kou.2 AJ276171 NM_018058 "CCDS55723|CCDS31266" Q9NQ79 11139377 MGI:1920082 RGD:621085 606276 HGNC:14882 "ENST00000370597.8|NM_018058.7" -HGNC:24313 CRTAM cytotoxic and regulatory T cell molecule protein-coding gene gene with protein product Approved 11q24.1 11q24.1 CD355 class I MHC restricted T cell associated molecule "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 2006-06-27 2017-12-06 2023-01-20 56253 ENSG00000109943 OTTHUMG00000166026 uc001pyj.4 AF001622 NM_019604 "CCDS76489|CCDS8437" O95727 "10811014|16300832" MGI:1859822 RGD:1304602 612597 HGNC:24313 "ENST00000227348.9|NM_019604.4" -HGNC:2379 CRTAP cartilage associated protein protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "CASP|LEPREL3|P3H5" "leprecan-like 3|prolyl 3-hydroxylase family member 5 (non-enzymatic)" Prolyl 3-hydroxylase family 1925 1999-10-19 2023-01-20 10491 ENSG00000170275 OTTHUMG00000130746 uc003cfl.5 AJ006470 NM_001393363 "CCDS93231|CCDS2657" O75718 "9217321|10429950" MGI:1891221 RGD:1565180 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=CRTAP|LRG_4|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_4.xml" 605497 138847 HGNC:2379 "ENST00000320954.11|NM_006371.5" HGNC:2379 +HGNC:14882 CRTAC1 cartilage acidic protein 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "FLJ10320|CEP-68|ASPIC1" 2001-05-11 2023-01-20 55118 ENSG00000095713 OTTHUMG00000018871 uc001kou.2 AJ276171 NM_018058 "CCDS31266|CCDS55723" Q9NQ79 11139377 MGI:1920082 RGD:621085 606276 HGNC:14882 "ENST00000370597.8|NM_018058.7" +HGNC:24313 CRTAM cytotoxic and regulatory T cell molecule protein-coding gene gene with protein product Approved 11q24.1 11q24.1 CD355 class I MHC restricted T cell associated molecule "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 2006-06-27 2017-12-06 2023-01-20 56253 ENSG00000109943 OTTHUMG00000166026 uc001pyj.4 AF001622 NM_019604 "CCDS8437|CCDS76489" O95727 "10811014|16300832" MGI:1859822 RGD:1304602 612597 HGNC:24313 "ENST00000227348.9|NM_019604.4" +HGNC:2379 CRTAP cartilage associated protein protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "CASP|LEPREL3|P3H5" "leprecan-like 3|prolyl 3-hydroxylase family member 5 (non-enzymatic)" Prolyl 3-hydroxylase family 1925 1999-10-19 2023-01-20 10491 ENSG00000170275 OTTHUMG00000130746 uc003cfl.5 AJ006470 NM_001393363 "CCDS2657|CCDS93231" O75718 "9217321|10429950" MGI:1891221 RGD:1565180 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=CRTAP|LRG_4|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_4.xml" 605497 138847 HGNC:2379 "ENST00000320954.11|NM_006371.5" HGNC:2379 HGNC:16062 CRTC1 CREB regulated transcription coactivator 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KIAA0616|FLJ14027|TORC1" transducer of regulated cAMP response element-binding protein MECT1 mucoepidermoid carcinoma translocated 1 2001-08-01 2005-11-24 2005-11-24 2023-01-20 23373 ENSG00000105662 OTTHUMG00000183115 uc002nkb.5 AY040323 NM_025021 "CCDS32963|CCDS42525" Q6UUV9 "12539049|14536081|14506290" MGI:2142523 RGD:1589158 CRTC1 607536 HGNC:16062 "ENST00000321949.13|NM_015321.3" HGNC:54616 CRTC1P1 CRTC1 pseudogene 1 pseudogene pseudogene Approved 2p16.3 02p16.3 2019-10-16 2020-01-21 129656 ENSG00000204993 NG_021564 HGNC:27301 CRTC2 CREB regulated transcription coactivator 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 TORC2 2005-11-24 2023-01-20 200186 ENSG00000160741 OTTHUMG00000037156 uc057leo.1 AY360172 NM_181715 CCDS30875 Q53ET0 "14506290|14536081" MGI:1921593 RGD:1308903 608972 HGNC:27301 "ENST00000368633.2|NM_181715.3" @@ -5545,7 +5545,7 @@ HGNC:26148 CRTC3 CREB regulated transcription coactivator 3 protein-coding gene HGNC:51433 CRTC3-AS1 CRTC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Antisense RNAs 1987 2014-11-26 2014-11-26 101926895 ENSG00000259736 OTTHUMG00000172335 BG472948 NR_120372 CRTC3-AS1 HGNC:51433 HGNC:2383 CRX cone-rod homeobox protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "CRD|LCA7|OTX3" orthodenticle homeobox 3 CORD2 PRD class homeoboxes and pseudogenes 521 1998-03-25 2023-01-20 1406 ENSG00000105392 OTTHUMG00000170610 uc002phq.5 AF024711 NM_000554 CCDS12706 O43186 "9390563|9537410" MGI:1194883 RGD:620511 Mutations of the Cone Rod Homeobox Gene|http://www.retina-international.org/files/sci-news/crxmut.htm 602225 8425 120822 HGNC:2383 "ENST00000221996.12|NM_000554.6" HGNC:2383 HGNC:2384 CRY1 cryptochrome circadian regulator 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 PHLL1 "cryptochrome 1 (photolyase-like)|cryptochrome circadian clock 1" 1996-10-26 2017-10-02 2023-01-20 1407 ENSG00000008405 OTTHUMG00000170005 uc001tmi.5 BC030519 NM_004075 CCDS9112 Q16526 8921389 MGI:1270841 RGD:735083 601933 objectId:2876 HGNC:2384 "ENST00000008527.10|NM_004075.5" -HGNC:2385 CRY2 cryptochrome circadian regulator 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "cryptochrome 2 (photolyase-like)|cryptochrome circadian clock 2" 1997-03-21 2017-10-02 2023-01-20 1408 ENSG00000121671 OTTHUMG00000153225 uc010rgn.2 AB014558 NM_021117 "CCDS7915|CCDS44576" Q49AN0 8909283 MGI:1270859 RGD:620935 603732 HGNC:2385 "ENST00000616080.2|NM_021117.5" +HGNC:2385 CRY2 cryptochrome circadian regulator 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "cryptochrome 2 (photolyase-like)|cryptochrome circadian clock 2" 1997-03-21 2017-10-02 2023-01-20 1408 ENSG00000121671 OTTHUMG00000153225 uc010rgn.2 AB014558 NM_021117 "CCDS44576|CCDS7915" Q49AN0 8909283 MGI:1270859 RGD:620935 603732 HGNC:2385 "ENST00000616080.2|NM_021117.5" HGNC:2388 CRYAA crystallin alpha A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 HSPB4 CRYA1 crystallin, alpha A Small heat shock proteins 585 1986-01-01 2015-11-12 2023-01-20 1409 ENSG00000160202 OTTHUMG00000086842 uc002zdd.3 NM_000394 "CCDS13695|CCDS86989" P02489 MGI:88515 RGD:2413 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYAA 123580 120828 HGNC:2388 "ENST00000291554.6|NM_000394.4" HGNC:2388 HGNC:2389 CRYAB crystallin alpha B protein-coding gene gene with protein product Approved 11q23.1 11q23.1 HSPB5 CRYA2 crystallin, alpha B Small heat shock proteins 585 1987-09-11 2015-11-12 2023-01-20 1410 ENSG00000109846 OTTHUMG00000166885 uc058hgc.1 NM_001289807 "CCDS81626|CCDS8351" P02511 8431633 MGI:88516 RGD:2414 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYAB|LRG_407|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_407.xml" 123590 120832 HGNC:2389 "ENST00000650687.2|NM_001289808.2" HGNC:2389 HGNC:2394 CRYBA1 crystallin beta A1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 eye lens structural protein CRYB1 crystallin, beta A1 Beta-gamma crystallins 1359 1986-01-01 2015-11-12 2023-01-20 1411 ENSG00000108255 OTTHUMG00000132729 uc002hdw.4 NM_005208 CCDS11249 P05813 "3745196|3770741" MGI:88518 RGD:2415 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYBA1 123610 120836 HGNC:2394 "ENST00000225387.8|NM_005208.5" HGNC:2394 @@ -5565,31 +5565,31 @@ HGNC:2411 CRYGD crystallin gamma D protein-coding gene gene with protein product HGNC:2412 CRYGEP crystallin gamma E, pseudogene pseudogene pseudogene Approved 2q33.3 02q33.3 G2 "CRYG5|CCL|CRYGEP1" "crystallin, gamma E pseudogene 1|crystallin, gamma E, pseudogene" Beta-gamma crystallins 1359 1986-01-01 2009-12-02 2015-11-12 2015-11-12 200575 ENSG00000229150 OTTHUMG00000154792 K03007 NG_002762 8004095 PGOHUM00000240506 HGNC:2412 HGNC:2413 CRYGFP crystallin gamma F, pseudogene pseudogene pseudogene Approved 2q34 02q34 p1 "CRYG6|CRYGFP1" "crystallin, gamma F pseudogene 1|crystallin, gamma F pseudogene" Beta-gamma crystallins 1359 1986-01-01 2007-12-17 2015-11-12 2015-11-12 1423 ENSG00000232799 OTTHUMG00000154708 K03009 NG_001107 PGOHUM00000241095 HGNC:2413 HGNC:2414 CRYGGP crystallin gamma G, pseudogene pseudogene pseudogene Approved 2p16.3 02p16.3 CRYGGP1 "crystallin, gamma G pseudogene 1|crystallin, gamma G, pseudogene" Beta-gamma crystallins 1359 1993-01-14 2009-12-02 2015-11-12 2015-11-12 1424 ENSG00000223710 OTTHUMG00000058411 X52628 NG_001108 PGOHUM00000240041 HGNC:2414 -HGNC:20458 CRYGN crystallin gamma N protein-coding gene gene with protein product Approved 7q36.1 07q36.1 crystallin, gamma N "Beta-gamma crystallins|MicroRNA protein coding host genes" "1359|1691" 2003-02-25 2015-11-12 2023-01-20 155051 ENSG00000127377 OTTHUMG00000157353 uc003wke.4 AF445455 NM_001308292 "CCDS78289|CCDS5926" Q8WXF5 MGI:2449167 RGD:1308547 609603 HGNC:20458 "ENST00000337323.3|NM_144727.3" +HGNC:20458 CRYGN crystallin gamma N protein-coding gene gene with protein product Approved 7q36.1 07q36.1 crystallin, gamma N "Beta-gamma crystallins|MicroRNA protein coding host genes" "1359|1691" 2003-02-25 2015-11-12 2023-01-20 155051 ENSG00000127377 OTTHUMG00000157353 uc003wke.4 AF445455 NM_001308292 "CCDS5926|CCDS78289" Q8WXF5 MGI:2449167 RGD:1308547 609603 HGNC:20458 "ENST00000337323.3|NM_144727.3" HGNC:2417 CRYGS crystallin gamma S protein-coding gene gene with protein product Approved 3q27.3 03q27.3 crystallin, gamma 8 CRYG8 crystallin, gamma S Beta-gamma crystallins 1359 1989-05-25 2015-11-12 2023-01-20 1427 ENSG00000213139 OTTHUMG00000156615 uc031scs.2 NM_017541 CCDS3275 P22914 MGI:1298216 RGD:1587483 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYGS 123730 235204 HGNC:2417 "ENST00000307944.6|NM_017541.4" HGNC:2417 -HGNC:18246 CRYL1 crystallin lambda 1 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "GDH|lambda-CRY|MGC149525|MGC149526" "crystallin, lamda 1|L-gulonate 3-dehydrogenase|lambda-crystallin homolog" crystallin, lambda 1 MicroRNA protein coding host genes 1691 2002-02-22 2015-11-12 2023-01-20 51084 ENSG00000165475 OTTHUMG00000016516 uc001une.4 AF077049 NM_015974 "CCDS86344|CCDS41871" Q9Y2S2 12527201 MGI:1915881 RGD:631427 609877 HGNC:18246 "ENST00000298248.12|NM_015974.3" +HGNC:18246 CRYL1 crystallin lambda 1 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "GDH|lambda-CRY|MGC149525|MGC149526" "crystallin, lamda 1|L-gulonate 3-dehydrogenase|lambda-crystallin homolog" crystallin, lambda 1 MicroRNA protein coding host genes 1691 2002-02-22 2015-11-12 2023-01-20 51084 ENSG00000165475 OTTHUMG00000016516 uc001une.4 AF077049 NM_015974 "CCDS41871|CCDS86344" Q9Y2S2 12527201 MGI:1915881 RGD:631427 609877 HGNC:18246 "ENST00000298248.12|NM_015974.3" HGNC:2418 CRYM crystallin mu protein-coding gene gene with protein product Approved 16p12.2 16p12.2 DFNA40 "thiomorpholine-carboxylate dehydrogenase|mu-crystallin" crystallin, mu 1992-11-26 2015-11-12 2023-01-20 1428 ENSG00000103316 OTTHUMG00000090707 uc002dim.4 NM_001376256 CCDS10597 Q14894 "1478656|21332720|1384048" MGI:102675 RGD:620943 123740 166809 1.5.1.25 HGNC:2418 "ENST00000572914.2|NM_001376256.1" HGNC:2418 -HGNC:2419 CRYZ crystallin zeta protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "quinone oxidoreductase|NADPH:quinone reductase" crystallin, zeta (quinone reductase) 1994-07-13 2015-11-12 2023-01-20 1429 ENSG00000116791 OTTHUMG00000009620 uc001dgk.4 NM_001130042 "CCDS44162|CCDS665|CCDS44163" Q08257 MGI:88527 RGD:1311639 123691 1.6.5.5 HGNC:2419 "ENST00000340866.10|NM_001889.4" -HGNC:2420 CRYZL1 crystallin zeta like 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "QOH-1|4P11" quinone reductase-like 1 crystallin, zeta (quinone reductase)-like 1 1999-05-06 2015-11-12 2023-01-20 9946 ENSG00000205758 OTTHUMG00000065954 uc061zsg.1 AF029689 NM_145858 CCDS13633 O95825 10191096 MGI:1913859 RGD:1310219 603920 HGNC:2420 "ENST00000381554.8|NM_145858.3" +HGNC:2419 CRYZ crystallin zeta protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "quinone oxidoreductase|NADPH:quinone reductase" crystallin, zeta (quinone reductase) 1994-07-13 2015-11-12 2023-01-20 1429 ENSG00000116791 OTTHUMG00000009620 uc001dgk.4 NM_001130042 "CCDS665|CCDS44163|CCDS44162" Q08257 MGI:88527 RGD:1311639 123691 1.6.5.5 HGNC:2419 "ENST00000340866.10|NM_001889.4" +HGNC:2420 CRYZL1 crystallin zeta like 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "QOH-1|4P11" quinone reductase-like 1 crystallin, zeta (quinone reductase)-like 1 FERRY complex subunits 2246 1999-05-06 2015-11-12 2023-01-20 9946 ENSG00000205758 OTTHUMG00000065954 uc061zsg.1 AF029689 NM_145858 CCDS13633 O95825 10191096 MGI:1913859 RGD:1310219 603920 HGNC:2420 "ENST00000381554.8|NM_145858.3" HGNC:52164 CRYZL2P crystallin zeta like 2, pseudogene pseudogene pseudogene Approved 1q25.2 01q25.2 2017-10-05 2017-10-05 730102 ENSG00000242193 OTTHUMG00000154878 NR_037167 MGI:2448516 RGD:1304982 HGNC:52164 HGNC:53757 CRYZL2P-SEC16B CRYZL2P-SEC16B readthrough other readthrough Approved 1q25.2 01q25.2 2017-10-19 2017-10-19 111240474 ENSG00000254154 OTTHUMG00000035027 NM_001356505 MGI:2148802 HGNC:53757 HGNC:2421 CRYZP1 crystallin zeta pseudogene 1 pseudogene pseudogene Approved 7q22.1 07q22.1 crystallin, zeta (quinone reductase) pseudogene 1 1994-07-26 2015-11-12 2015-11-12 1430 ENSG00000233025 OTTHUMG00000157207 L31527 NG_001109 8088825 PGOHUM00000232951 HGNC:2421 HGNC:49203 CRYZP2 crystallin zeta pseudogene 2 pseudogene pseudogene Approved 4q23 04q23 crystallin, zeta (quinone reductase) pseudogene 2 2013-10-08 2015-11-12 2015-11-12 100526735 ENSG00000250293 OTTHUMG00000161185 NG_027880 PGOHUM00000250724 HGNC:49203 HGNC:2422 CS citrate synthase protein-coding gene gene with protein product Approved 12q13.3 12q13.3 2001-06-22 2023-01-20 1431 ENSG00000062485 OTTHUMG00000170344 uc001sks.2 NM_004077 CCDS8913 O75390 MGI:88529 RGD:620330 118950 2.3.3.1 HGNC:2422 "ENST00000351328.8|NM_004077.3" -HGNC:18966 CSAD cysteine sulfinic acid decarboxylase protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "PCAP|CSD" P-selectin cytoplasmic tail-associated protein 2002-07-25 2023-01-20 51380 ENSG00000139631 OTTHUMG00000048076 uc010snx.3 AB044561 NM_015989 "CCDS58235|CCDS8848" Q9Y600 15489334 MGI:2180098 RGD:621030 616569 4.1.1.29 HGNC:18966 "ENST00000444623.6|NM_001244705.2" +HGNC:18966 CSAD cysteine sulfinic acid decarboxylase protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "PCAP|CSD" P-selectin cytoplasmic tail-associated protein 2002-07-25 2023-01-20 51380 ENSG00000139631 OTTHUMG00000048076 uc010snx.3 AB044561 NM_015989 "CCDS8848|CCDS58235" Q9Y600 15489334 MGI:2180098 RGD:621030 616569 4.1.1.29 HGNC:18966 "ENST00000444623.6|NM_001244705.2" HGNC:24294 CSAG1 chondrosarcoma associated gene 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "CSAGE|CT24.1" cancer/testis antigen family 24, member 1 CSAG family 1851 2004-07-15 2023-03-15 158511 ENSG00000198930 OTTHUMG00000022648 uc033fah.1 AF268419 NM_153479 CCDS76047 Q6PB30 12039054 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CSAG1 300944 HGNC:24294 "ENST00000452779.3|NM_001102576.3" HGNC:16847 CSAG2 CSAG family member 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "TRAG3|CT24.2" cancer/testis antigen family 24, member 2 CSAG3B "CSAG family, member 3B|CSAG family, member 2" CSAG family 1851 2004-07-15 2015-11-18 2023-01-20 102723547 ENSG00000268902 OTTHUMG00000022641 AF080246 NM_001080848 CCDS94689 Q9Y5P2 10095106 301096 PGOHUM00000258444 HGNC:16847 "ENST00000638741.2|NM_001395334.1" HGNC:26237 CSAG3 CSAG family member 3 protein-coding gene gene with protein product Approved Xq28 Xq28 CSAG3A "CSAG family, member 3A|CSAG family, member 3" CSAG family 1851 2005-06-01 2008-03-11 2015-11-18 2023-03-15 389903 ENSG00000268916 OTTHUMG00000188381 BC007228 NM_203311 Q9Y5P2 301097 PGOHUM00000305395 HGNC:26237 HGNC:20923 CSAG4 CSAG family member 4 (pseudogene) pseudogene pseudogene Approved Xq28 Xq28 "CSAG family, member 4|CSAG family, member 4 (pseudogene)" CSAG family 1851 2005-06-30 2015-11-18 2020-04-20 100130935 ENSG00000242599 OTTHUMG00000022646 BC013171 NR_073432 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CSAG4 PGOHUM00000241603 HGNC:20923 HGNC:30359 CSDC2 cold shock domain containing C2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 PIPPin cold shock domain containing C2, RNA binding 2005-08-22 2016-02-29 2023-01-20 27254 ENSG00000172346 OTTHUMG00000150967 uc003bak.2 AL834417 NM_014460 CCDS14019 Q9Y534 "8573167|12767259" MGI:2146027 RGD:628780 617689 HGNC:30359 "ENST00000306149.12|NM_014460.4" -HGNC:29905 CSDE1 cold shock domain containing E1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "D1S155E|UNR" upstream of NRAS cold shock domain containing E1, RNA binding 2005-07-26 2016-02-29 2023-01-20 7812 ENSG00000009307 OTTHUMG00000012060 uc001efk.4 NM_007158 "CCDS44197|CCDS55626|CCDS30812|CCDS30811" O75534 "2204029|10048485" MGI:92356 RGD:619726 191510 470138 HGNC:29905 "ENST00000358528.9|NM_001007553.3" +HGNC:29905 CSDE1 cold shock domain containing E1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "D1S155E|UNR" upstream of NRAS cold shock domain containing E1, RNA binding 2005-07-26 2016-02-29 2023-01-20 7812 ENSG00000009307 OTTHUMG00000012060 uc001efk.4 NM_007158 "CCDS30812|CCDS55626|CCDS30811|CCDS44197" O75534 "2204029|10048485" MGI:92356 RGD:619726 191510 470138 HGNC:29905 "ENST00000358528.9|NM_001007553.3" HGNC:2431 CSE1L chromosome segregation 1 like protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "CAS|XPO2|CSE1" cellular apoptosis susceptibility "chromosome segregation 1 (yeast homolog)-like|CSE1 chromosome segregation 1-like (yeast)|CSE1 chromosome segregation 1 like" Exportins 547 1998-05-05 2016-04-25 2023-03-15 1434 ENSG00000124207 OTTHUMG00000033046 uc002xty.5 U33286 NM_001316 "CCDS13412|CCDS58773" P55060 "8963895|7479798" MGI:1339951 RGD:1307536 601342 HGNC:2431 "ENST00000262982.3|NM_001316.4" HGNC:51232 CSE1L-DT CSE1L divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 CSE1L-AS1 CSE1L antisense RNA 1 Divergent transcripts 1990 2014-08-08 2021-07-30 2021-07-30 2021-07-30 102723483 ENSG00000227431 OTTHUMG00000032688 NR_110624 CSE1L-AS1 HGNC:51232 -HGNC:2432 CSF1 colony stimulating factor 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "M-CSF|MCSF|MGC31930" macrophage colony stimulating factor 1 colony stimulating factor 1 (macrophage) 1986-01-01 2016-01-14 2023-01-20 1435 ENSG00000184371 OTTHUMG00000011646 uc001dyw.5 BC021117 NM_000757 "CCDS817|CCDS816|CCDS30797" P09603 1540160 MGI:1339753 RGD:621063 120420 ligandId:4905 HGNC:2432 "ENST00000329608.11|NM_000757.6" +HGNC:2432 CSF1 colony stimulating factor 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "M-CSF|MCSF|MGC31930" macrophage colony stimulating factor 1 colony stimulating factor 1 (macrophage) 1986-01-01 2016-01-14 2023-01-20 1435 ENSG00000184371 OTTHUMG00000011646 uc001dyw.5 BC021117 NM_000757 "CCDS816|CCDS30797|CCDS817" P09603 1540160 MGI:1339753 RGD:621063 120420 ligandId:4905 HGNC:2432 "ENST00000329608.11|NM_000757.6" HGNC:2433 CSF1R colony stimulating factor 1 receptor protein-coding gene gene with protein product Approved 5q32 05q32 "C-FMS|CSFR|CD115" FMS McDonough feline sarcoma viral (v-fms) oncogene homolog "Receptor tyrosine kinases|CD molecules|Immunoglobulin like domain containing" "321|471|594" 2001-06-22 2008-08-01 2023-01-20 1436 ENSG00000182578 OTTHUMG00000130050 uc003lrm.3 U63963 NM_005211 CCDS4302 P07333 1611909 MGI:1339758 RGD:2425 164770 317674 objectId:1806 CD115 HGNC:2433 "ENST00000675795.1|NM_001288705.3" HGNC:2433 HGNC:2434 CSF2 colony stimulating factor 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "GM-CSF|GMCSF" "sargramostim|molgramostim|granulocyte-macrophage colony stimulating factor" colony stimulating factor 2 (granulocyte-macrophage) 2001-06-22 2016-01-14 2023-01-20 1437 ENSG00000164400 OTTHUMG00000059637 uc003kwf.5 M11734 NM_000758 CCDS4150 P04141 "3898082|2999978" MGI:1339752 RGD:621065 138960 ligandId:4942 HGNC:2434 "ENST00000296871.4|NM_000758.4" -HGNC:2435 CSF2RA colony stimulating factor 2 receptor subunit alpha protein-coding gene gene with protein product Approved Xp22.32 and Yp11.3 Xp22.32 and Yp11.3 "CD116|alphaGMR" alpha-GM-CSF receptor CSF2R colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) "CD molecules|Pseudoautosomal region 1" "471|715" 1990-07-03 2019-11-26 2023-03-15 1438 ENSG00000198223 OTTHUMG00000012533 uc010nvv.3 M64445 NM_001161529 "CCDS35192|CCDS55360|CCDS55359|CCDS35191|CCDS35193|CCDS35190" P15509 1702217 MGI:1339754 RGD:1594330 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CSF2RA|LRG_186|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_186.xml" "306250|425000" 209477 objectId:1707 CD116 HGNC:2435 "ENST00000381529.9|NM_172245.4" HGNC:2435 -HGNC:2436 CSF2RB colony stimulating factor 2 receptor subunit beta protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "IL5RB|CD131|betaGMR" "beta common cytokine receptor|beta-GM-CSF receptor" IL3RB "colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)|colony stimulating factor 2 receptor beta common subunit" "CD molecules|Fibronectin type III domain containing" "471|555" 1991-08-07 2019-11-26 2023-01-20 1439 ENSG00000100368 OTTHUMG00000150546 uc003aqa.5 M59941 NM_000395 "CCDS93160|CCDS13936" P32927 "1833064|1424804" "MGI:1339759|MGI:1339760" RGD:620189 138981 120855 objectId:2306 CD131 HGNC:2436 "ENST00000403662.8|NM_000395.3" HGNC:2436 +HGNC:2435 CSF2RA colony stimulating factor 2 receptor subunit alpha protein-coding gene gene with protein product Approved Xp22.32 and Yp11.3 Xp22.32 and Yp11.3 "CD116|alphaGMR" alpha-GM-CSF receptor CSF2R colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) "CD molecules|Pseudoautosomal region 1" "471|715" 1990-07-03 2019-11-26 2023-03-15 1438 ENSG00000198223 OTTHUMG00000012533 uc010nvv.3 M64445 NM_001161529 "CCDS55359|CCDS55360|CCDS35191|CCDS35190|CCDS35193|CCDS35192" P15509 1702217 MGI:1339754 RGD:1594330 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CSF2RA|LRG_186|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_186.xml" "306250|425000" 209477 objectId:1707 CD116 HGNC:2435 "ENST00000381529.9|NM_172245.4" HGNC:2435 +HGNC:2436 CSF2RB colony stimulating factor 2 receptor subunit beta protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "IL5RB|CD131|betaGMR" "beta common cytokine receptor|beta-GM-CSF receptor" IL3RB "colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)|colony stimulating factor 2 receptor beta common subunit" "CD molecules|Fibronectin type III domain containing" "471|555" 1991-08-07 2019-11-26 2023-01-20 1439 ENSG00000100368 OTTHUMG00000150546 uc003aqa.5 M59941 NM_000395 "CCDS13936|CCDS93160" P32927 "1833064|1424804" "MGI:1339759|MGI:1339760" RGD:620189 138981 120855 objectId:2306 CD131 HGNC:2436 "ENST00000403662.8|NM_000395.3" HGNC:2436 HGNC:2437 CSF2RBP1 CSF2RB pseudogene 1 pseudogene pseudogene Approved 22q12.3 22q12.3 CSF2RB2 "colony stimulating factor 2 receptor, beta, 2|colony stimulating factor 2 receptor, beta, 2 pseudogene|colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) pseudogene 1|colony stimulating factor 2 receptor beta common subunit pseudogene 1" 1999-10-29 2011-04-28 2019-11-26 2019-11-26 23772 ENSG00000232254 OTTHUMG00000150535 NG_002638 10591208 HGNC:2437 HGNC:2438 CSF3 colony stimulating factor 3 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 MGC45931 "granulocyte colony stimulating factor|pluripoietin|filgrastim|lenograstim" "GCSF|G-CSF|C17orf33" "chromosome 17 open reading frame 33|colony stimulating factor 3 (granulocyte)" Receptor ligands 542 2001-06-22 2015-11-06 2023-01-20 1440 ENSG00000108342 OTTHUMG00000133247 uc002htp.4 NM_172220 "CCDS42314|CCDS11357|CCDS11358" P09919 "3499671|3501046" MGI:1339751 RGD:2426 138970 ligandId:4934 HGNC:2438 "ENST00000394149.8|NM_172219.3" HGNC:2439 CSF3R colony stimulating factor 3 receptor protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "GCSFR|G-CSF-R" granulocyte colony-stimulating factor receptor CD114 colony stimulating factor 3 receptor (granulocyte) "CD molecules|Fibronectin type III domain containing" "471|555" 1990-12-10 2015-11-06 2023-03-15 1441 ENSG00000119535 OTTHUMG00000008010 uc001caw.3 M59820 NM_156039 "CCDS414|CCDS413|CCDS412" Q99062 "1371413|24753537" MGI:1339755 RGD:1309114 LRG_144|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_144.xml CSF3R 138971 159476 objectId:1719 CD114 HGNC:2439 "ENST00000373106.6|NM_000760.4" HGNC:2439 @@ -5599,31 +5599,31 @@ HGNC:55174 CSGALNACT2-DT CSGALNACT2 divergent transcript non-coding RNA RNA, lon HGNC:55033 CSGALNACT2P1 CSGALNACT2 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-05-28 2020-05-28 286453 ENSG00000182574 NG_021119 HGNC:55034 CSGALNACT2P2 CSGALNACT2 pseudogene 2 pseudogene pseudogene Approved Xq22.3 Xq22.3 2020-05-28 2020-05-28 107178920 ENSG00000256709 NG_046710 HGNC:2440 CSH1 chorionic somatomammotropin hormone 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "hCS-A|CSA|PL|CSMT|FLJ75407" "chorionic somatomammotropin A|placental lactogen|choriomammotropin" Growth hormone family 1175 1986-01-01 2016-01-12 2023-03-15 1442 ENSG00000136488 OTTHUMG00000171947 uc002jcs.3 J00118 NM_001317 CCDS11649 P0DML2 6208192 MGI:95707 150200 ligandId:4893 HGNC:2440 "ENST00000316193.13|NM_001317.6" -HGNC:2441 CSH2 chorionic somatomammotropin hormone 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "hCS-B|CSB|CS-2" "placental lactogen|chorionic somatomammotropin B" Growth hormone family 1175 2001-06-22 2023-01-20 1443 ENSG00000213218 OTTHUMG00000172283 uc002jch.4 V00573 NM_020991 "CCDS42369|CCDS42368|CCDS11646" P0DML3 "593368|6208192" MGI:95707 118820 ligandId:4893 HGNC:2441 "ENST00000392886.7|NM_020991.4" -HGNC:2442 CSHL1 chorionic somatomammotropin hormone like 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "hCS-L|CSL|CS-5|MGC149868" chorionic somatomammotropin CS-5 CSHP1 Growth hormone family 1175 2001-06-22 2016-01-12 2023-01-20 1444 ENSG00000204414 OTTHUMG00000172287 uc002jda.2 BC029365 NM_022579 "CCDS11652|CCDS45759|CCDS42370|CCDS82189" Q14406 8083227 MGI:95707 603515 ligandId:4894 HGNC:2442 "ENST00000309894.6|NM_022579.3" +HGNC:2441 CSH2 chorionic somatomammotropin hormone 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "hCS-B|CSB|CS-2" "placental lactogen|chorionic somatomammotropin B" Growth hormone family 1175 2001-06-22 2023-01-20 1443 ENSG00000213218 OTTHUMG00000172283 uc002jch.4 V00573 NM_020991 "CCDS11646|CCDS42368|CCDS42369" P0DML3 "593368|6208192" MGI:95707 118820 ligandId:4893 HGNC:2441 "ENST00000392886.7|NM_020991.4" +HGNC:2442 CSHL1 chorionic somatomammotropin hormone like 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "hCS-L|CSL|CS-5|MGC149868" chorionic somatomammotropin CS-5 CSHP1 Growth hormone family 1175 2001-06-22 2016-01-12 2023-01-20 1444 ENSG00000204414 OTTHUMG00000172287 uc002jda.2 BC029365 NM_022579 "CCDS42370|CCDS11652|CCDS82189|CCDS45759" Q14406 8083227 MGI:95707 603515 ligandId:4894 HGNC:2442 "ENST00000309894.6|NM_022579.3" HGNC:2444 CSK C-terminal Src kinase protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "c-src tyrosine kinase|CSK, non-receptor tyrosine kinase" "SH2 domain containing|Csk family tyrosine kinases" "741|1460" 1992-03-20 2017-05-12 2023-01-20 1445 ENSG00000103653 OTTHUMG00000142814 uc002ays.3 NM_004383 CCDS10269 P41240 1377109 MGI:88537 RGD:1308800 124095 objectId:1994 2.7.10.1 HGNC:2444 "ENST00000220003.14|NM_004383.3" HGNC:33113 CSKMT citrate synthase lysine methyltransferase protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "U99HG|CS-KMT" METTL12 methyltransferase like 12 "Small nucleolar RNA protein coding host genes|7BS protein lysine methyltransferases" "1835|2056" 2009-02-23 2017-10-09 2017-10-09 2023-01-20 751071 ENSG00000214756 OTTHUMG00000167545 uc001nug.2 BC041359 NM_001043229 CCDS41657 A8MUP2 "28391595|28887308" 617897 HGNC:33113 "ENST00000532971.2|NM_001043229.2" HGNC:14026 CSMD1 CUB and Sushi multiple domains 1 protein-coding gene gene with protein product Approved 8p23.2 08p23.2 "KIAA1890|PPP1R24" protein phosphatase 1, regulatory subunit 24 "Protein phosphatase 1 regulatory subunits|Sushi domain containing|Complement system regulators and receptors" "694|1179|1639" 2000-12-21 2023-01-20 64478 ENSG00000183117 OTTHUMG00000163605 uc064jzp.1 NM_033225 CCDS55189 Q96PZ7 MGI:2137383 RGD:1305103 608397 HGNC:14026 "ENST00000635120.2|NM_033225.6" HGNC:14026 -HGNC:19290 CSMD2 CUB and Sushi multiple domains 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 KIAA1884 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2002-11-26 2023-01-20 114784 ENSG00000121904 OTTHUMG00000011135 uc001bxm.2 AY210418 NM_052896 "CCDS60082|CCDS380" Q7Z408 "11472063|11572484" MGI:2386401 RGD:1565728 608398 HGNC:19290 "ENST00000373381.9|NM_001281956.2" +HGNC:19290 CSMD2 CUB and Sushi multiple domains 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 KIAA1884 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2002-11-26 2023-01-20 114784 ENSG00000121904 OTTHUMG00000011135 uc001bxm.2 AY210418 NM_052896 "CCDS380|CCDS60082" Q7Z408 "11472063|11572484" MGI:2386401 RGD:1565728 608398 HGNC:19290 "ENST00000373381.9|NM_001281956.2" HGNC:40882 CSMD2-AS1 CSMD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p35.1 01p35.1 ENST00000434181 Antisense RNAs 1987 2014-05-21 2017-02-16 402779 ENSG00000231163 OTTHUMG00000013025 NR_038372 27816668 CSMD2-AS1 HGNC:40882 -HGNC:19291 CSMD3 CUB and Sushi multiple domains 3 protein-coding gene gene with protein product Approved 8q23.3 08q23.3 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2003-01-14 2023-01-20 114788 ENSG00000164796 OTTHUMG00000157027 uc003ynu.4 AY210419 NM_052900 "CCDS6317|CCDS6315|CCDS6316" Q7Z407 MGI:2386403 RGD:1594530 608399 HGNC:19291 "ENST00000297405.10|NM_198123.2" -HGNC:2445 CSN1S1 casein alpha s1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "CASA|CSN1" casein, alpha 1987-09-11 2003-01-31 2003-01-24 2023-01-20 1446 ENSG00000126545 OTTHUMG00000160843 uc003hep.2 X78416 NM_001025104 "CCDS54769|CCDS47067" P47710 "9050925|7619062" MGI:88540 RGD:2430 115450 HGNC:2445 "ENST00000246891.9|NM_001890.2" -HGNC:20230 CSN1S2AP casein alpha s2 like A, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 CSN1S2A casein alpha s2-like A 2003-01-15 2010-10-28 2019-02-18 2019-02-18 286828 ENSG00000234124 OTTHUMG00000160842 AY154892 XM_379270 13679022 MGI:88542 HGNC:20230 -HGNC:20227 CSN1S2BP casein alpha s2 like B, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 CSN1S2B casein alpha s2-like B 2003-01-15 2010-10-28 2019-02-18 2020-04-20 100337616 AW104440 NR_033311.1 13679022 MGI:105312 HGNC:20227 -HGNC:2447 CSN2 casein beta protein-coding gene gene with protein product Approved 4q13.3 04q13.3 CASB 1987-09-11 2023-01-20 1447 ENSG00000135222 OTTHUMG00000129409 uc003hes.5 X17070 NM_001302770 CCDS3532 P05814 1577486 MGI:88541 RGD:61981 115460 HGNC:2447 "ENST00000353151.4|NM_001891.4" -HGNC:2446 CSN3 casein kappa protein-coding gene gene with protein product Approved 4q13.3 04q13.3 CSN10 casein, kappa 1997-04-21 2003-01-31 2003-01-24 2023-01-20 1448 ENSG00000171209 OTTHUMG00000129399 uc003hfe.5 U51899 NM_005212 CCDS3538 P07498 "8863730|9050925" MGI:107461 RGD:61990 601695 HGNC:2446 "ENST00000304954.4|NM_001394997.1" -HGNC:2451 CSNK1A1 casein kinase 1 alpha 1 protein-coding gene gene with protein product Approved 5q32 05q32 "CK1|CK1a|CK1alpha|CKIa|CKIalpha" clock regulator kinase casein kinase 1, alpha 1 casein kinase 1 family 1330 1994-12-13 2016-01-21 2023-01-20 1452 ENSG00000113712 OTTHUMG00000163463 uc003lqw.3 AF119911 NM_001892 "CCDS64291|CCDS47304|CCDS47303" P48729 8050587 MGI:1934950 RGD:71098 600505 objectId:1995 HGNC:2451 "ENST00000377843.8|NM_001892.6" +HGNC:19291 CSMD3 CUB and Sushi multiple domains 3 protein-coding gene gene with protein product Approved 8q23.3 08q23.3 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2003-01-14 2023-01-20 114788 ENSG00000164796 OTTHUMG00000157027 uc003ynu.4 AY210419 NM_052900 "CCDS6315|CCDS6317|CCDS6316" Q7Z407 MGI:2386403 RGD:1594530 608399 HGNC:19291 "ENST00000297405.10|NM_198123.2" +HGNC:2445 CSN1S1 casein alpha s1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "CASA|CSN1" casein, alpha Secretory calcium-binding phosphoprotein family 2245 1987-09-11 2003-01-31 2003-01-24 2023-01-20 1446 ENSG00000126545 OTTHUMG00000160843 uc003hep.2 X78416 NM_001025104 "CCDS47067|CCDS54769" P47710 "9050925|7619062" MGI:88540 RGD:2430 115450 HGNC:2445 "ENST00000246891.9|NM_001890.2" +HGNC:20230 CSN1S2AP casein alpha s2 like A, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 CSN1S2A casein alpha s2-like A Secretory calcium-binding phosphoprotein family 2245 2003-01-15 2010-10-28 2019-02-18 2019-02-18 286828 ENSG00000234124 OTTHUMG00000160842 AY154892 XM_379270 13679022 MGI:88542 HGNC:20230 +HGNC:20227 CSN1S2BP casein alpha s2 like B, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 CSN1S2B casein alpha s2-like B Secretory calcium-binding phosphoprotein family 2245 2003-01-15 2010-10-28 2019-02-18 2020-04-20 100337616 AW104440 NR_033311.1 13679022 MGI:105312 HGNC:20227 +HGNC:2447 CSN2 casein beta protein-coding gene gene with protein product Approved 4q13.3 04q13.3 CASB Secretory calcium-binding phosphoprotein family 2245 1987-09-11 2023-01-20 1447 ENSG00000135222 OTTHUMG00000129409 uc003hes.5 X17070 NM_001302770 CCDS3532 P05814 1577486 MGI:88541 RGD:61981 115460 HGNC:2447 "ENST00000353151.4|NM_001891.4" +HGNC:2446 CSN3 casein kappa protein-coding gene gene with protein product Approved 4q13.3 04q13.3 CSN10 casein, kappa Secretory calcium-binding phosphoprotein family 2245 1997-04-21 2003-01-31 2003-01-24 2023-01-20 1448 ENSG00000171209 OTTHUMG00000129399 uc003hfe.5 U51899 NM_005212 CCDS3538 P07498 "8863730|9050925" MGI:107461 RGD:61990 601695 HGNC:2446 "ENST00000304954.4|NM_001394997.1" +HGNC:2451 CSNK1A1 casein kinase 1 alpha 1 protein-coding gene gene with protein product Approved 5q32 05q32 "CK1|CK1a|CK1alpha|CKIa|CKIalpha" clock regulator kinase casein kinase 1, alpha 1 casein kinase 1 family 1330 1994-12-13 2016-01-21 2023-01-20 1452 ENSG00000113712 OTTHUMG00000163463 uc003lqw.3 AF119911 NM_001892 "CCDS47304|CCDS47303|CCDS64291" P48729 8050587 MGI:1934950 RGD:71098 600505 objectId:1995 HGNC:2451 "ENST00000377843.8|NM_001892.6" HGNC:20289 CSNK1A1L casein kinase 1 alpha 1 like protein-coding gene gene with protein product Approved 13q13.3 13q13.3 MGC33182 casein kinase 1, alpha 1-like casein kinase 1 family 1330 2004-04-16 2016-01-21 2023-01-20 122011 ENSG00000180138 OTTHUMG00000016748 uc001uwm.2 BC028723 NM_145203 CCDS9363 Q8N752 objectId:1996 2.7.11.1 HGNC:20289 "ENST00000379800.4|NM_145203.6" HGNC:30446 CSNK1A1P1 casein kinase 1 alpha 1 pseudogene 1 pseudogene pseudogene Approved 15q14 15q14 CSNK1A1P "casein kinase 1, alpha 1 pseudogene|casein kinase 1, alpha 1 pseudogene 1" 2009-03-11 2010-07-20 2016-01-21 2016-10-05 161635 ENSG00000223518 OTTHUMG00000172664 BC028192 NR_027320 PGOHUM00000251178 HGNC:30446 HGNC:30445 CSNK1A1P2 casein kinase 1 alpha 1 pseudogene 2 pseudogene pseudogene Approved 11q22.2 11q22.2 casein kinase 1, alpha 1 pseudogene 2 2010-07-20 2016-01-21 2016-01-21 120321 NG_001532 HGNC:30445 HGNC:38669 CSNK1A1P3 casein kinase 1 alpha 1 pseudogene 3 pseudogene pseudogene Approved 5q15 05q15 casein kinase 1, alpha 1 pseudogene 3 2010-07-20 2016-01-21 2016-01-21 100526776 ENSG00000250162 OTTHUMG00000162747 NG_027923 PGOHUM00000235710 HGNC:38669 -HGNC:2452 CSNK1D casein kinase 1 delta protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "HCKID|CKID|CKIdelta" casein kinase 1, delta casein kinase 1 family 1330 1995-09-27 2016-01-21 2023-01-20 1453 ENSG00000141551 OTTHUMG00000178601 uc002kej.4 NM_139062 "CCDS11806|CCDS11805|CCDS86654" P48730 7797465 MGI:1355272 RGD:71031 600864 165845 objectId:1997 HGNC:2452 "ENST00000314028.11|NM_001893.6" HGNC:2452 +HGNC:2452 CSNK1D casein kinase 1 delta protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "HCKID|CKID|CKIdelta" casein kinase 1, delta casein kinase 1 family 1330 1995-09-27 2016-01-21 2023-01-20 1453 ENSG00000141551 OTTHUMG00000178601 uc002kej.4 NM_139062 "CCDS86654|CCDS11805|CCDS11806" P48730 7797465 MGI:1355272 RGD:71031 600864 165845 objectId:1997 HGNC:2452 "ENST00000314028.11|NM_001893.6" HGNC:2452 HGNC:2453 CSNK1E casein kinase 1 epsilon protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "HCKIE|CKIE|CKIepsilon" casein kinase 1, epsilon casein kinase 1 family 1330 1995-09-27 2016-01-21 2023-03-15 1454 ENSG00000213923 OTTHUMG00000151135 uc003avm.3 NM_001894 P49674 "7797465|10535959" MGI:1351660 RGD:62045 600863 objectId:1998 HGNC:2453 "ENST00000396832.6|NM_152221.3" HGNC:2453 HGNC:2454 CSNK1G1 casein kinase 1 gamma 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 CK1gamma1 casein kinase 1, gamma 1 casein kinase 1 family 1330 2000-05-31 2016-01-21 2023-01-20 53944 ENSG00000169118 OTTHUMG00000133019 uc002anf.5 AB042562 NM_022048 "CCDS86464|CCDS86465|CCDS10192" Q9HCP0 11124537 MGI:2660884 RGD:621404 606274 objectId:1999 HGNC:2454 "ENST00000303052.13|NM_022048.5" HGNC:2454 HGNC:2455 CSNK1G2 casein kinase 1 gamma 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 CK1g2 casein kinase 1, gamma 2 casein kinase 1 family 1330 1997-07-01 2016-01-21 2023-01-20 1455 ENSG00000133275 OTTHUMG00000180016 uc002lul.5 AF001177 NM_001319 CCDS12077 P78368 9403068 MGI:1920014 RGD:621407 602214 objectId:2000 HGNC:2455 "ENST00000255641.13|NM_001319.7" HGNC:28604 CSNK1G2-AS1 CSNK1G2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 MGC39696 C19orf34 "chromosome 19 open reading frame 34|CSNK1G2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-07-30 2011-11-24 2012-08-15 2012-10-12 255193 ENSG00000180846 OTTHUMG00000179999 uc060rgh.1 BC029585 NR_033400 Q8NCQ2 12477932 CSNK1G2-AS1 HGNC:28604 HGNC:49739 CSNK1G2P1 casein kinase 1 gamma 2 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 casein kinase 1, gamma 2 pseudogene 1 2014-02-13 2016-01-21 2016-01-21 100419821 ENSG00000234534 OTTHUMG00000019483 NG_023867 PGOHUM00000236358 HGNC:49739 -HGNC:2456 CSNK1G3 casein kinase 1 gamma 3 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 casein kinase 1, gamma 3 casein kinase 1 family 1330 1998-08-25 2016-01-21 2023-01-20 1456 ENSG00000151292 OTTHUMG00000128923 uc031skw.2 AF049090 NM_004384 "CCDS43355|CCDS34218|CCDS4135|CCDS59491|CCDS59492|CCDS59493|CCDS93772" Q9Y6M4 9925945 MGI:1917675 RGD:621408 604253 objectId:2001 HGNC:2456 "ENST00000696905.1|NM_001364140.2" HGNC:2456 +HGNC:2456 CSNK1G3 casein kinase 1 gamma 3 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 casein kinase 1, gamma 3 casein kinase 1 family 1330 1998-08-25 2016-01-21 2023-01-20 1456 ENSG00000151292 OTTHUMG00000128923 uc031skw.2 AF049090 NM_004384 "CCDS43355|CCDS93772|CCDS59491|CCDS34218|CCDS59492|CCDS59493|CCDS4135" Q9Y6M4 9925945 MGI:1917675 RGD:621408 604253 objectId:2001 HGNC:2456 "ENST00000696905.1|NM_001364140.2" HGNC:2456 HGNC:2457 CSNK2A1 casein kinase 2 alpha 1 protein-coding gene gene with protein product Approved 20p13 20p13 "Cka1|Cka2" Casein kinase II subunit alpha casein kinase 2, alpha 1 polypeptide 1992-02-13 2016-01-21 2023-01-20 1457 ENSG00000101266 OTTHUMG00000031636 uc002wdx.2 M55265 NM_001895 "CCDS13003|CCDS13004" P68400 "2174700|1766873" MGI:88543 RGD:621663 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=CSNK2A1 115440 470140 objectId:1549 HGNC:2457 "ENST00000217244.9|NM_177559.3" HGNC:2457 HGNC:2459 CSNK2A2 casein kinase 2 alpha 2 protein-coding gene gene with protein product Approved 16q21 16q21 "CSNK2A1|CK2alpha'" casein kinase 2 alpha' casein kinase 2, alpha prime polypeptide 1992-02-13 2016-01-21 2023-01-20 1459 ENSG00000070770 OTTHUMG00000133488 uc002enc.4 M55268 NM_001896 CCDS10794 P19784 "2174700|1766873" MGI:88547 RGD:1306882 115442 470142 objectId:1550 HGNC:2459 "ENST00000262506.8|NM_001896.4" HGNC:2458 CSNK2A3 casein kinase 2 alpha 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 CSNK2A1P "casein kinase 2, alpha 1 polypeptide pseudogene|casein kinase 2, alpha 3 polypeptide" 1992-11-25 2013-01-17 2016-01-21 2023-01-20 283106 ENSG00000254598 OTTHUMG00000165708 uc001mjp.4 X64692 NM_001256686 CCDS59224 Q8NEV1 "12102635|1610905|20625391" MGI:88543 HGNC:2458 "ENST00000528848.3|NM_001256686.2" @@ -5644,8 +5644,8 @@ HGNC:48361 CSPG4P10 chondroitin sulfate proteoglycan 4 pseudogene 10 pseudogene HGNC:48363 CSPG4P11 chondroitin sulfate proteoglycan 4 pseudogene 11 pseudogene pseudogene Approved 15q25.2 15q25.2 2013-05-10 2013-05-10 100631254 ENSG00000259726 OTTHUMG00000172497 NG_029302 PGOHUM00000247233 HGNC:48363 HGNC:48362 CSPG4P12 chondroitin sulfate proteoglycan 4 pseudogene 12 pseudogene pseudogene Approved 15q25.3 15q25.3 2013-05-10 2015-02-02 728121 ENSG00000259295 OTTHUMG00000172141 NG_022136 PGOHUM00000293340 HGNC:48362 HGNC:49195 CSPG4P13 chondroitin sulfate proteoglycan 4 pseudogene 13 pseudogene pseudogene Approved 15q24.3 15q24.3 2013-09-26 2013-09-26 100302666 ENSG00000260139 OTTHUMG00000172978 NG_012725 PGOHUM00000247189 HGNC:49195 -HGNC:2467 CSPG5 chondroitin sulfate proteoglycan 5 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 NGC neuroglycan C chondroitin sulfate proteoglycan 5 (neuroglycan C) 1999-07-23 2015-12-16 2023-01-20 10675 ENSG00000114646 OTTHUMG00000133518 uc003crp.5 AF059274 NM_006574 "CCDS2757|CCDS56253|CCDS56252|CCDS74930" O95196 9950058 MGI:1352747 RGD:2431 606775 HGNC:2467 "ENST00000264723.9|NM_006574.4" -HGNC:26193 CSPP1 centrosome and spindle pole associated protein 1 protein-coding gene gene with protein product Approved 8q13.1-q13.2 08q13.1-q13.2 "FLJ22490|CSPP|JBTS21|CSPP-L" 2005-09-06 2023-03-15 79848 ENSG00000104218 OTTHUMG00000164564 uc003xxj.4 AJ583433 NM_024790 "CCDS94308|CCDS94307|CCDS78344|CCDS94309|CCDS94301|CCDS94310|CCDS94304|CCDS43744" Q1MSJ5 "15580290|24360807" MGI:2681832 RGD:1307055 611654 390741 HGNC:26193 "ENST00000678616.1|NM_001382391.1" HGNC:26193 +HGNC:2467 CSPG5 chondroitin sulfate proteoglycan 5 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 NGC neuroglycan C chondroitin sulfate proteoglycan 5 (neuroglycan C) 1999-07-23 2015-12-16 2023-01-20 10675 ENSG00000114646 OTTHUMG00000133518 uc003crp.5 AF059274 NM_006574 "CCDS56253|CCDS74930|CCDS2757|CCDS56252" O95196 9950058 MGI:1352747 RGD:2431 606775 HGNC:2467 "ENST00000264723.9|NM_006574.4" +HGNC:26193 CSPP1 centrosome and spindle pole associated protein 1 protein-coding gene gene with protein product Approved 8q13.1-q13.2 08q13.1-q13.2 "FLJ22490|CSPP|JBTS21|CSPP-L" 2005-09-06 2023-03-15 79848 ENSG00000104218 OTTHUMG00000164564 uc003xxj.4 AJ583433 NM_024790 "CCDS94307|CCDS94304|CCDS94310|CCDS94301|CCDS94308|CCDS78344|CCDS94309|CCDS43744" Q1MSJ5 "15580290|24360807" MGI:2681832 RGD:1307055 611654 390741 HGNC:26193 "ENST00000678616.1|NM_001382391.1" HGNC:26193 HGNC:14300 CSRNP1 cysteine and serine rich nuclear protein 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "URAX1|DKFZp566F164|FAM130B|TAIP-3" AXUD1 "AXIN1 up-regulated 1|cysteine-serine-rich nuclear protein 1" 2001-01-03 2009-04-17 2016-03-08 2023-01-20 64651 ENSG00000144655 OTTHUMG00000131293 uc003cjh.4 AB053121 NM_033027 CCDS2682 Q96S65 "11526492|17726538" MGI:2387989 RGD:1305999 606458 HGNC:14300 "ENST00000273153.10|NM_033027.4" HGNC:16006 CSRNP2 cysteine and serine rich nuclear protein 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "C12ORF2|TAIP-12|PPP1R72" protein phosphatase 1, regulatory subunit 72 "C12orf22|FAM130A1" "chromosome 12 open reading frame 22|family with sequence similarity 130, member A1|cysteine-serine-rich nuclear protein 2" Protein phosphatase 1 regulatory subunits 694 2001-06-28 2009-01-07 2016-03-08 2023-01-20 81566 ENSG00000110925 OTTHUMG00000169578 uc001rxu.3 AJ298133 NM_030809 CCDS8807 Q9H175 17726538 MGI:2386852 RGD:1308916 620404 HGNC:16006 "ENST00000228515.6|NM_030809.3" HGNC:30729 CSRNP3 cysteine and serine rich nuclear protein 3 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "FLJ32093|TAIP-2|PPP1R73" "TGF beta induced apotosis protein 2|protein phosphatase 1, regulatory subunit 73" FAM130A2 "family with sequence similarity 130, member A2|cysteine-serine-rich nuclear protein 3" Protein phosphatase 1 regulatory subunits 694 2007-01-19 2009-01-07 2016-03-08 2023-01-20 80034 ENSG00000178662 OTTHUMG00000132145 uc002udf.3 AB063300 NM_024969 CCDS2225 Q8WYN3 17726538 MGI:1925021 RGD:1306214 620405 HGNC:30729 "ENST00000651982.1|NM_001172173.2" @@ -5654,13 +5654,13 @@ HGNC:55856 CSRP1-AS1 CSRP1 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:2470 CSRP2 cysteine and glycine rich protein 2 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "SmLIM|CRP2|LMO5" LIM domain containing 1218 1997-06-18 2015-11-23 2023-01-20 1466 ENSG00000175183 OTTHUMG00000169919 uc001syl.2 BC000992 NM_001321 CCDS9015 Q16527 "7499425|9286703" MGI:1202907 RGD:61950 601871 HGNC:2470 "ENST00000311083.10|NM_001321.3" HGNC:2471 CSRP2P1 CSRP2 pseudogene 1 pseudogene pseudogene Approved 3q13.33 03q13.33 CSRP2P "cysteine and glycine rich protein 2 pseudogene|cysteine and glycine rich protein 2 pseudogene 1" 1997-06-18 2015-11-23 2022-10-28 2022-10-28 1467 U72535 NG_000852 9286703 PGOHUM00000299144 HGNC:2471 HGNC:56524 CSRP2P2 CSRP2 pseudogene 2 pseudogene pseudogene Approved 3q22.1 03q22.1 2022-10-28 2022-10-28 100420832 ENSG00000249098 NG_025627 PGOHUM00000299179 -HGNC:2472 CSRP3 cysteine and glycine rich protein 3 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "CLP|MLP|CMD1M" "cardiac LIM protein|muscle LIM protein" LIM domain containing 1218 1999-07-21 2015-11-23 2023-01-20 8048 ENSG00000129170 OTTHUMG00000166100 uc001mpk.4 U20324 NM_003476 "CCDS91449|CCDS7848" P50461 7490106 MGI:1330824 RGD:71092 LRG_440|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_440.xml 600824 120860 HGNC:2472 "ENST00000265968.9|NM_003476.5" HGNC:2472 +HGNC:2472 CSRP3 cysteine and glycine rich protein 3 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "CLP|MLP|CMD1M" "cardiac LIM protein|muscle LIM protein" LIM domain containing 1218 1999-07-21 2015-11-23 2023-01-20 8048 ENSG00000129170 OTTHUMG00000166100 uc001mpk.4 U20324 NM_003476 "CCDS7848|CCDS91449" P50461 7490106 MGI:1330824 RGD:71092 LRG_440|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_440.xml 600824 120860 HGNC:2472 "ENST00000265968.9|NM_003476.5" HGNC:2472 HGNC:54183 CSRP3-AS1 CSRP3 and E2F8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 Antisense RNAs 1987 2019-02-21 2019-02-21 105376580 ENSG00000255308 NR_183672 HGNC:54183 -HGNC:2473 CST1 cystatin SN protein-coding gene gene with protein product Approved 20p11.21 20p11.21 Cystatins, type 2 965 1990-02-06 2023-01-20 1469 ENSG00000170373 OTTHUMG00000032085 uc061vvz.1 M19169 NM_001898 CCDS13160 P01037 RGD:2115 123855 I25.010 HGNC:2473 "ENST00000304749.7|NM_001898.3" HGNC:2473 +HGNC:2473 CST1 cystatin SN protein-coding gene gene with protein product Approved 20p11.21 20p11.21 Cystatins, type 2 965 1990-02-06 2023-01-20 1469 ENSG00000170373 OTTHUMG00000032085 uc061vvz.1 M19169 NM_001898 CCDS13160 P01037 123855 I25.010 HGNC:2473 "ENST00000304749.7|NM_001898.3" HGNC:2473 HGNC:2474 CST2 cystatin SA protein-coding gene gene with protein product Approved 20p11.21 20p11.21 cystatin 2 Cystatins, type 2 965 1990-02-06 2023-01-20 1470 ENSG00000170369 OTTHUMG00000032086 uc002wtq.2 M19671 NM_001322 CCDS13161 P09228 123856 I25.009 HGNC:2474 "ENST00000304725.3|NM_001322.3" HGNC:45042 CST2P1 cystatin SA pseudogene 1 pseudogene pseudogene Approved 20p11.21 20p11.21 2013-01-25 2013-05-07 101410546 ENSG00000232595 OTTHUMG00000032084 NG_033231 HGNC:45042 HGNC:2475 CST3 cystatin C protein-coding gene gene with protein product Approved 20p11.21 20p11.21 cystatin C (amyloid angiopathy and cerebral hemorrhage) Cystatins, type 2 965 1990-02-06 2008-04-15 2023-01-20 1471 ENSG00000101439 OTTHUMG00000032080 uc002wtm.5 NM_000099 CCDS13158 P01034 8486384 MGI:102519 RGD:2432 604312 120865 I25.004 HGNC:2475 "ENST00000376925.8|NM_000099.4" HGNC:2475 -HGNC:2476 CST4 cystatin S protein-coding gene gene with protein product Approved 20p11.21 20p11.21 Cystatins, type 2 965 1993-01-20 2023-01-20 1472 ENSG00000101441 OTTHUMG00000032083 uc002wto.2 NM_001899 CCDS13159 P01036 1801729 123857 I25.008 HGNC:2476 "ENST00000217423.4|NM_001899.3" +HGNC:2476 CST4 cystatin S protein-coding gene gene with protein product Approved 20p11.21 20p11.21 Cystatins, type 2 965 1993-01-20 2023-01-20 1472 ENSG00000101441 OTTHUMG00000032083 uc002wto.2 NM_001899 CCDS13159 P01036 1801729 RGD:2115 123857 I25.008 HGNC:2476 "ENST00000217423.4|NM_001899.3" HGNC:2477 CST5 cystatin D protein-coding gene gene with protein product Approved 20p11.21 20p11.21 Cystatins, type 2 965 1993-01-20 2023-01-20 1473 ENSG00000170367 OTTHUMG00000032089 uc002wtr.2 NM_001900 CCDS13162 P28325 1939105 MGI:1930004 RGD:1310978 123858 I25.005 HGNC:2477 "ENST00000304710.5|NM_001900.5" HGNC:2478 CST6 cystatin E/M protein-coding gene gene with protein product Approved 11q13.1 11q13.1 Cystatins, type 2 965 1996-12-12 2023-01-20 1474 ENSG00000175315 OTTHUMG00000166750 uc001ogr.4 U62800 NM_001323 CCDS8126 Q15828 "9154125|9099741" MGI:1920970 RGD:628799 601891 I25.006 HGNC:2478 "ENST00000312134.3|NM_001323.4" HGNC:2479 CST7 cystatin F protein-coding gene gene with protein product Approved 20p11.21 20p11.21 leukocystatin cystatin F (leukocystatin) Cystatins, type 2 965 1998-10-14 2015-12-16 2023-01-20 8530 ENSG00000077984 OTTHUMG00000032108 uc002wtx.2 AF036342 NM_003650 CCDS13165 O76096 "9733783|9632704" MGI:1298217 RGD:1309154 603253 I25.007 HGNC:2479 "ENST00000480798.2|NM_003650.4" @@ -5669,7 +5669,7 @@ HGNC:13261 CST9 cystatin 9 protein-coding gene gene with protein product Approve HGNC:16233 CST9L cystatin 9 like protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "bA218C14.1|CTES7B" cystatin 9 (mouse)-like Cystatins, type 2 965 2001-07-17 2017-02-21 2023-01-20 128821 ENSG00000101435 OTTHUMG00000032073 uc002wtk.5 NM_080610 CCDS13157 Q9H4G1 20565543 MGI:1340053 RGD:1311032 616536 HGNC:16233 "ENST00000376979.4|NM_080610.3" HGNC:39552 CST9LP1 cystatin 9-like pseudogene 1 pseudogene pseudogene Approved 20p11.21 20p11.21 CTES7C Cystatins, type 2 965 2011-02-21 2014-11-19 128820 ENSG00000204662 OTTHUMG00000032079 NG_029361 Q5W188 20565543 MGI:1340053 HGNC:39552 HGNC:44337 CST9LP2 cystatin 9-like pseudogene 2 pseudogene pseudogene Approved 20p11.21 20p11.21 CTES7D Cystatins, type 2 965 2015-06-04 2015-06-04 106480788 ENSG00000204658 OTTHUMG00000032075 NG_044076 20565543 PGOHUM00000297071 HGNC:44337 -HGNC:15959 CST11 cystatin 11 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ322G13.6|CTES2" CST8L Cystatins, type 2 965 2001-09-17 2023-01-20 140880 ENSG00000125831 OTTHUMG00000032060 uc002wtf.2 AL096677 NM_130794 "CCDS13155|CCDS13154" Q9H112 20565543 MGI:1925490 RGD:620589 609731 I25.027 HGNC:15959 "ENST00000377009.8|NM_130794.2" +HGNC:15959 CST11 cystatin 11 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ322G13.6|CTES2" CST8L Cystatins, type 2 965 2001-09-17 2023-01-20 140880 ENSG00000125831 OTTHUMG00000032060 uc002wtf.2 AL096677 NM_130794 "CCDS13154|CCDS13155" Q9H112 20565543 MGI:1925490 RGD:620589 609731 I25.027 HGNC:15959 "ENST00000377009.8|NM_130794.2" HGNC:31920 CST12P cystatin 12, pseudogene pseudogene pseudogene Approved 20p11.21 20p11.21 "Cst|E2|Ctes4" Cystatins, type 2 965 2012-08-14 2012-08-14 106478911 ENSG00000226344 OTTHUMG00000032072 NG_044988 "12700194|20565543" MGI:1916612 HGNC:31920 HGNC:44335 CST13P cystatin 13, pseudogene pseudogene pseudogene Approved 20p11.21 20p11.21 "CTES6|CSTT" cystatin T Cystatins, type 2 965 2012-08-14 2015-03-19 164380 ENSG00000204663 OTTHUMG00000032078 NR_001279 20565543 MGI:1916544 HGNC:44335 HGNC:2481 CSTA cystatin A protein-coding gene gene with protein product Approved 3q21.1 03q21.1 stefin A "STF1|STFA" cystatin A (stefin A) Cystatins, type 1 966 1990-02-06 2015-12-16 2023-01-20 1475 ENSG00000121552 OTTHUMG00000159488 uc003eex.4 NM_005213 CCDS3011 P01040 1674139 "MGI:106196|MGI:106197|MGI:106198|MGI:1924020|MGI:3524930|MGI:3524944|MGI:3644688|MGI:3645124|MGI:3648404|MGI:3696881|MGI:3696883" RGD:1309603 184600 289589 I25.001 HGNC:2481 "ENST00000264474.4|NM_005213.4" HGNC:2481 @@ -5678,12 +5678,12 @@ HGNC:56380 CSTBP1 CSTB pseudogene 1 pseudogene pseudogene Approved 3p25.3 03p25. HGNC:2483 CSTF1 cleavage stimulation factor subunit 1 protein-coding gene gene with protein product Approved 20q13.2-q13.31 20q13.2-q13.31 "cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD|cleavage stimulation factor, 3' pre-RNA, subunit 1" "WD repeat domain containing|Cleavage stimulation factor subunits" "362|1449" 1994-12-12 2016-04-05 2023-01-20 1477 ENSG00000101138 OTTHUMG00000032791 uc002xxm.2 NM_001033521 CCDS13452 Q05048 "1358884|11257228" MGI:1914587 RGD:1309267 600369 HGNC:2483 "ENST00000217109.9|NM_001324.3" HGNC:2484 CSTF2 cleavage stimulation factor subunit 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 CstF-64 "cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD|cleavage stimulation factor, 3' pre-RNA, subunit 2" "RNA binding motif containing|Cleavage stimulation factor subunits" "725|1449" 1994-12-12 2016-04-05 2023-01-20 1478 ENSG00000101811 OTTHUMG00000022709 uc004egh.4 BC017712 NM_001325 "CCDS14473|CCDS78498" P33240 1741396 MGI:1343054 RGD:1596566 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CSTF2 300907 HGNC:2484 "ENST00000372972.7|NM_001325.3" HGNC:17086 CSTF2T cleavage stimulation factor subunit 2 tau variant protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "DKFZp434C1013|KIAA0689|CstF-64T|tauCstF-64" "cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant|cleavage stimulation factor, 3' pre-RNA, subunit 2, tau variant|cleavage stimulation factor subunit 2, tau variant" "RNA binding motif containing|Cleavage stimulation factor subunits" "725|1449" 2003-10-09 2016-08-11 2023-01-20 23283 ENSG00000177613 OTTHUMG00000018246 uc001jjp.4 AB014589 NM_015235 CCDS7245 Q9H0L4 "12408968|11113135" MGI:1932622 RGD:1310026 611968 HGNC:17086 "ENST00000331173.6|NM_015235.3" -HGNC:2485 CSTF3 cleavage stimulation factor subunit 3 protein-coding gene gene with protein product Approved 11p13 11p13 CstF-77 "cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD|cleavage stimulation factor, 3' pre-RNA, subunit 3" Cleavage stimulation factor subunits 1449 1995-01-16 2016-04-05 2023-01-20 1479 ENSG00000176102 OTTHUMG00000166268 uc001muh.4 U15782 NM_001326 "CCDS7883|CCDS44563|CCDS44564" Q12996 7984242 MGI:1351825 RGD:1305901 600367 HGNC:2485 "ENST00000323959.9|NM_001326.3" +HGNC:2485 CSTF3 cleavage stimulation factor subunit 3 protein-coding gene gene with protein product Approved 11p13 11p13 CstF-77 "cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD|cleavage stimulation factor, 3' pre-RNA, subunit 3" Cleavage stimulation factor subunits 1449 1995-01-16 2016-04-05 2023-01-20 1479 ENSG00000176102 OTTHUMG00000166268 uc001muh.4 U15782 NM_001326 "CCDS44564|CCDS7883|CCDS44563" Q12996 7984242 MGI:1351825 RGD:1305901 600367 HGNC:2485 "ENST00000323959.9|NM_001326.3" HGNC:27882 CSTF3-DT CSTF3 divergent transcript non-coding RNA RNA, long non-coding Approved 11p13 11p13 CSTF3-AS1 CSTF3 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-01-23 2018-03-22 2018-03-22 2018-03-22 338739 ENSG00000247151 OTTHUMG00000166243 uc001muk.4 NR_034027 12477932 CSTF3-AS1 HGNC:27882 HGNC:15958 CSTL1 cystatin like 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ322G13.4|CTES1" cystatin-like 1 Cystatins, type 2 965 2001-09-17 2016-04-05 2023-01-20 128817 ENSG00000125823 OTTHUMG00000032068 uc002wte.3 AL096677 NM_138283 CCDS13153 Q9H114 20565543 MGI:2652834 RGD:1307417 I25.027 HGNC:15958 "ENST00000347397.5|NM_138283.1" HGNC:2486 CSTP1 cystatin pseudogene 1 pseudogene pseudogene Approved 20p11.21 20p11.21 dJ850N15.1 1990-02-13 2016-10-05 1480 ENSG00000228476 OTTHUMG00000032091 NG_001020 HGNC:2486 HGNC:2487 CSTP2 cystatin pseudogene 2 pseudogene pseudogene Approved 20p11.21 20p11.21 1994-07-04 2015-08-19 1481 ENSG00000277975 OTTHUMG00000187965 AF319563 NG_000839 8179826 PGOHUM00000296924 HGNC:2487 -HGNC:28720 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ22210|MGC4707" centriolar satellite-associated tubulin polyglutamylation protein 1 C11orf49 chromosome 11 open reading frame 49 2006-02-02 2022-01-06 2022-01-06 2023-01-20 79096 ENSG00000149179 OTTHUMG00000166725 uc001ndp.5 AL136575 NM_024113 "CCDS31480|CCDS41641|CCDS7925|CCDS31479" Q9H6J7 34782749 MGI:1915079 RGD:1309540 HGNC:28720 "ENST00000278460.12|NM_024113.5" +HGNC:28720 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ22210|MGC4707" centriolar satellite-associated tubulin polyglutamylation protein 1 C11orf49 chromosome 11 open reading frame 49 2006-02-02 2022-01-06 2022-01-06 2023-01-20 79096 ENSG00000149179 OTTHUMG00000166725 uc001ndp.5 AL136575 NM_024113 "CCDS31479|CCDS41641|CCDS7925|CCDS31480" Q9H6J7 34782749 MGI:1915079 RGD:1309540 HGNC:28720 "ENST00000278460.12|NM_024113.5" HGNC:33267 CT45A1 cancer/testis antigen family 45 member A1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CT45-1|CT45.1" cancer/testis antigen CT45-1 CT antigen family 45 1849 2009-03-09 2016-08-04 2023-01-20 541466 ENSG00000268940 OTTHUMG00000188602 uc033ewc.1 AY743709 NM_001017417 CCDS48174 Q5HYN5 15905330 MGI:2685494 300648 HGNC:33267 "ENST00000594565.6|NM_001017417.3" HGNC:28400 CT45A2 cancer/testis antigen family 45 member A2 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CT45-2|CT45.2" cancer/testis antigen CT45-2 CT antigen family 45 1849 2009-03-09 2016-08-04 2023-01-20 728911 ENSG00000271449 OTTHUMG00000022490 uc033ewh.2 AY743710 NM_152582 CCDS76031 Q5DJT8 15905330 MGI:2685494 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CT45A2 300793 HGNC:28400 "ENST00000612907.2|NM_152582.7" HGNC:33268 CT45A3 cancer/testis antigen family 45 member A3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CT45-3|CT45.3|CT45-4|CT45.4" cancer/testis antigen CT45-3 CT45A4 cancer/testis antigen family 45, member A4 CT antigen family 45 1849 2009-03-09 2016-08-04 2023-01-20 441519 ENSG00000269096 OTTHUMG00000022489 uc065bgb.1 AY743711 NM_001017435 CCDS76030 Q8NHU0 15905330 MGI:2685494 300794 HGNC:33268 "ENST00000598716.3|NM_001370148.2" @@ -5709,7 +5709,7 @@ HGNC:27397 CT47A11 cancer/testis antigen family 47 member A11 protein-coding gen HGNC:33292 CT47A12 cancer/testis antigen family 47 member A12 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.12 cancer/testis CT47 family, member 12 CT antigen family 47 1850 2011-10-07 2019-01-21 2023-01-20 100507170 ENSG00000226685 OTTHUMG00000188843 uc065aye.1 NM_001242922 CCDS56607 Q5JQC4 16382448 MGI:3644556 HGNC:33292 HGNC:33293 CT47B1 cancer/testis antigen family 47 member B1 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.13 cancer/testis CT47 family, member 13 CT antigen family 47 1850 2009-03-09 2019-01-21 2023-01-20 643311 ENSG00000236446 OTTHUMG00000187483 uc011muc.3 NM_001145718 CCDS48161 P0C2W7 16382448 MGI:3644556 RGD:7519078 300790 HGNC:33293 "ENST00000371311.5|NM_001145718.3" HGNC:53820 CT47C1 cancer/testis antigen family 47 member C1 protein-coding gene gene with protein product Approved Xq24 Xq24 CT antigen family 47 1850 2022-09-23 2022-09-23 2023-01-20 727838 ENSG00000277535 OTTHUMG00000188075 NM_001396132 CCDS94658 A0A0U1RQG5 28965411 -HGNC:26047 CT55 cancer/testis antigen 55 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 FLJ20527 CXorf48 chromosome X open reading frame 48 2004-11-08 2013-12-10 2013-12-10 2023-01-20 54967 ENSG00000169551 OTTHUMG00000022473 AF520814 NM_017863 "CCDS14647|CCDS35400" Q8WUE5 12477932 MGI:1922263 RGD:1560456 301105 HGNC:26047 "ENST00000276241.11|NM_001031705.3" +HGNC:26047 CT55 cancer/testis antigen 55 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 FLJ20527 CXorf48 chromosome X open reading frame 48 2004-11-08 2013-12-10 2013-12-10 2023-01-20 54967 ENSG00000169551 OTTHUMG00000022473 AF520814 NM_017863 "CCDS35400|CCDS14647" Q8WUE5 12477932 MGI:1922263 RGD:1560456 301105 HGNC:26047 "ENST00000276241.11|NM_001031705.3" HGNC:27286 CT62 cancer/testis associated 62 non-coding RNA RNA, long non-coding Approved 15q23 15q23 cancer/testis antigen 62 Long non-coding RNAs with non-systematic symbols 1992 2009-08-17 2019-10-30 2023-03-15 196993 ENSG00000225362 OTTHUMG00000172836 uc002ata.3 "BC039359|AL080151" NR_168259 P0C5K7 15905330 HGNC:27286 HGNC:54198 CT66 cancer/testis associated transcript 66 non-coding RNA RNA, long non-coding Approved 7q11.22 07q11.22 cancer/testis antigen 66 Long non-coding RNAs with non-systematic symbols 1992 2019-03-13 2019-03-13 100507468 ENSG00000234215 NR_108105 23691492 HGNC:54198 HGNC:37196 CT69 cancer/testis associated transcript 69 non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 cancer/testis antigen 69 Long non-coding RNAs with non-systematic symbols 1992 2019-03-13 2019-03-13 101928231 ENSG00000231971 OTTHUMG00000015617 BC040308 NR_125852 "15905330|23691492" HGNC:37196 @@ -5718,7 +5718,7 @@ HGNC:37174 CT75 cancer/testis associated transcript 75 non-coding RNA RNA, long HGNC:33494 CT83 cancer/testis antigen 83 protein-coding gene gene with protein product Approved Xq23 Xq23 "KK-LC-1|FLJ20611|FLJ22913" Kita-kyushu lung cancer antigen 1 CXorf61 chromosome X open reading frame 61 2007-06-20 2013-12-10 2013-12-10 2023-01-20 203413 ENSG00000204019 OTTHUMG00000022244 BC062223 NM_001017978 CCDS35372 Q5H943 16651449 300625 HGNC:33494 "ENST00000371894.5|NM_001017978.4" HGNC:24198 CTAG1A cancer/testis antigen 1A protein-coding gene gene with protein product Approved Xq28 Xq28 "LAGE2A|ESO1" 2004-06-15 2023-01-20 246100 ENSG00000268651 OTTHUMG00000024238 uc004fme.3 NM_139250 CCDS44025 P78358 "11709543|10523621" MGI:3644285 300657 HGNC:24198 "ENST00000599837.3|NM_139250.2" HGNC:2491 CTAG1B cancer/testis antigen 1B protein-coding gene gene with protein product Approved Xq28 Xq28 "NY-ESO-1|LAGE2B|LAGE2A|ESO1|CT6.1" "CTAG|CTAG1" cancer/testis antigen 1 1998-06-22 2004-06-16 2004-06-15 2023-01-20 1485 ENSG00000184033 OTTHUMG00000024232 uc004fmf.1 U87459 NM_001327 CCDS14758 P78358 "9605863|11709543" MGI:3644285 300156 HGNC:2491 "ENST00000328435.3|NM_001327.3" -HGNC:2492 CTAG2 cancer/testis antigen 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "LAGE-1|CAMEL|LAGE1|ESO2|MGC3803|MGC138724|CT6.2a|CT6.2b|LAGE-1a|LAGE-1b" "CTL-recognized antigen on melanoma|LAGE-1a protein|cancer/testis antigen family 6, member 2a|cancer/testis antigen family 6, member 2b" 2000-08-22 2023-01-20 30848 ENSG00000126890 OTTHUMG00000024239 uc004fmh.3 AJ012833 NM_020994 "CCDS14759|CCDS35455" O75638 "9626360|10399963" RGD:1561702 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CTAG2 300396 HGNC:2492 "ENST00000369585.4|NM_172377.5" +HGNC:2492 CTAG2 cancer/testis antigen 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "LAGE-1|CAMEL|LAGE1|ESO2|MGC3803|MGC138724|CT6.2a|CT6.2b|LAGE-1a|LAGE-1b" "CTL-recognized antigen on melanoma|LAGE-1a protein|cancer/testis antigen family 6, member 2a|cancer/testis antigen family 6, member 2b" 2000-08-22 2023-01-20 30848 ENSG00000126890 OTTHUMG00000024239 uc004fmh.3 AJ012833 NM_020994 "CCDS35455|CCDS14759" O75638 "9626360|10399963" RGD:1561702 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CTAG2 300396 HGNC:2492 "ENST00000369585.4|NM_172377.5" HGNC:24346 CTAGE1 cutaneous T cell lymphoma-associated antigen 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "cTAGE-1|cTAGE-2|CTAGE|CT21.1|CT21.2" "cutaneous T-cell lymphoma-associated antigen 1|cutaneous T-cell lymphoma-associated antigen 2|cancer/testis antigen family 21, member 1|cancer/testis antigen family 21, member 2" cutaneous T-cell lymphoma-associated antigen 1 CTAGE family 907 2004-05-27 2017-12-06 2023-03-15 64693 ENSG00000212710 OTTHUMG00000165867 uc002ktv.2 AF177229 "NM_022663|NM_172241" CCDS45837 "Q96RT6|Q9HC47" "11149944|12839582" MGI:2159614 608856 HGNC:24346 "ENST00000391403.4|NM_172241.3" HGNC:24348 CTAGE3P CTAGE family member 3, pseudogene pseudogene pseudogene Approved 13q14.3 13q14.3 cTAGE-3 cutaneous T-cell lymphoma-associated antigen 3 CTAGE3 "CTAGE family, member 3|CTAGE family, member 3, pseudogene" CTAGE family 907 2004-05-27 2010-05-26 2015-11-18 2016-10-05 220112 ENSG00000232872 OTTHUMG00000016951 AF338231 NG_006514 Q8IX95 "12839582|11149944" 608857 PGOHUM00000248402 HGNC:24348 HGNC:24772 CTAGE4 CTAGE family member 4 protein-coding gene gene with protein product Approved 7q35 07q35 "FLJ43692|cTAGE-4" cutaneous T-cell lymphoma-associated antigen 4 CTAGE family, member 4 CTAGE family 907 2004-05-27 2015-11-18 2023-01-20 100128553 ENSG00000288784 OTTHUMG00000157997 uc010lpc.5 AF338232 NM_198495 CCDS55176 Q8IX94 "12839582|11149944" 608910 HGNC:24772 "ENST00000486333.2|NM_198495.3" @@ -5733,10 +5733,10 @@ HGNC:37298 CTAGE13P CTAGE family member 13, pseudogene pseudogene pseudogene App HGNC:37299 CTAGE14P CTAGE family member 14, pseudogene pseudogene pseudogene Approved 2q24.3 02q24.3 CTAGE family, member 14, pseudogene CTAGE family 907 2010-10-12 2015-11-18 2015-11-18 401018 ENSG00000214211 OTTHUMG00000154029 NG_021536 PGOHUM00000240415 HGNC:37299 HGNC:37295 CTAGE15 CTAGE family member 15 protein-coding gene gene with protein product Approved 7q35 07q35 CTAGE15P "CTAGE family, member 15, pseudogene|CTAGE family, member 15" CTAGE family 907 2010-10-12 2013-02-25 2015-11-18 2023-01-20 441294 ENSG00000271079 OTTHUMG00000153233 uc011kth.3 NM_001008747 CCDS64788 A4D2H0 HGNC:37295 "ENST00000420911.2|NM_001008747.2" HGNC:41967 CTAGE16P CTAGE family member 16, pseudogene pseudogene pseudogene Approved 13q21.1 13q21.1 CTAGE family, member 16, pseudogene CTAGE family 907 2011-05-24 2015-11-18 2015-11-18 341689 ENSG00000214335 OTTHUMG00000016998 NG_022898 PGOHUM00000248609 HGNC:41967 -HGNC:2494 CTBP1 C-terminal binding protein 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 BARS brefeldin A-ribosylated substrate 1997-08-22 2023-01-20 1487 ENSG00000159692 OTTHUMG00000089259 uc003gcv.2 U37408 NM_001328 "CCDS3348|CCDS43203|CCDS93461" Q13363 9479502 MGI:1201685 RGD:2441 602618 HGNC:2494 "ENST00000382952.8|NM_001012614.2" HGNC:2494 +HGNC:2494 CTBP1 C-terminal binding protein 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 BARS brefeldin A-ribosylated substrate 1997-08-22 2023-01-20 1487 ENSG00000159692 OTTHUMG00000089259 uc003gcv.2 U37408 NM_001328 "CCDS43203|CCDS93461|CCDS3348" Q13363 9479502 MGI:1201685 RGD:2441 602618 HGNC:2494 "ENST00000382952.8|NM_001012614.2" HGNC:2494 HGNC:48337 CTBP1-AS CTBP1 antisense RNA non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 PCAT10 prostate cancer associated transcript 10 Antisense RNAs 1987 2013-06-14 2016-11-24 285463 ENSG00000280927 OTTHUMG00000189534 "AX747592|AK092548" NR_104331 "23644382|25552498" ctbp1-as HGNC:48337 HGNC:28307 CTBP1-DT CTBP1 divergent transcript non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 MGC21675 "C4orf42|CTBP1-AS1|CTBP1-AS2" "chromosome 4 open reading frame 42|CTBP1 antisense RNA 1 (head to head)|CTBP1 antisense RNA 2 (head to head)" Divergent transcripts 1990 2007-12-19 2018-03-22 2018-03-22 2023-03-15 92070 ENSG00000196810 OTTHUMG00000160166 AK056133 NR_033339 31220774 CTBP1-AS2 HGNC:28307 -HGNC:2495 CTBP2 C-terminal binding protein 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 ribeye MicroRNA protein coding host genes 1691 1997-08-22 2023-01-20 1488 ENSG00000175029 OTTHUMG00000019224 uc009yal.4 AF016507 NM_001083914 "CCDS7643|CCDS7644|CCDS86154" P56545 "9479502|11864595" MGI:1201686 RGD:68372 602619 HGNC:2495 "ENST00000309035.11|NM_022802.3" +HGNC:2495 CTBP2 C-terminal binding protein 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 ribeye MicroRNA protein coding host genes 1691 1997-08-22 2023-01-20 1488 ENSG00000175029 OTTHUMG00000019224 uc009yal.4 AF016507 NM_001083914 "CCDS7643|CCDS86154|CCDS7644" P56545 "9479502|11864595" MGI:1201686 RGD:68372 602619 HGNC:2495 "ENST00000309035.11|NM_022802.3" HGNC:23940 CTBP2P1 CTBP2 pseudogene 1 pseudogene pseudogene Approved Yq12 Yq12 C-terminal binding protein 2 pseudogene 1 2010-02-16 2019-09-02 2019-09-02 352905 ENSG00000235857 OTTHUMG00000036770 NG_002808 12815422 PGOHUM00000234105 HGNC:23940 HGNC:45194 CTBP2P2 CTBP2 pseudogene 2 pseudogene pseudogene Approved 10q23.33 10q23.33 C-terminal binding protein 2 pseudogene 2 2013-03-06 2019-09-02 2023-05-10 100130970 ENSG00000235746 OTTHUMG00000018790 NG_022155 PGOHUM00000238591 HGNC:45194 HGNC:45195 CTBP2P3 CTBP2 pseudogene 3 pseudogene pseudogene Approved 18q21.32 18q21.32 C-terminal binding protein 2 pseudogene 3 2013-03-06 2019-09-02 2019-09-02 220147 ENSG00000267153 OTTHUMG00000179961 NG_022494 PGOHUM00000235082 HGNC:45195 @@ -5749,43 +5749,43 @@ HGNC:54511 CTBP2P9 CTBP2 pseudogene 9 pseudogene pseudogene Approved 21p11.2 21p HGNC:54512 CTBP2P10 CTBP2 pseudogene 10 pseudogene pseudogene Approved 21p11.2 21p11.2 2019-09-02 2019-09-02 107987305 ENSG00000280330 OTTHUMG00000189471 PGOHUM00000297304 HGNC:54512 HGNC:54513 CTBP2P11 CTBP2 pseudogene 11 pseudogene pseudogene Approved 21p12 21p12 2019-09-02 2019-09-02 107987307 HGNC:54513 HGNC:2496 CTBS chitobiase protein-coding gene gene with protein product Approved 1p22.3 01p22.3 di-N-acetylchitobiase CTB chitobiase, di-N-acetyl- Chitinases 816 1992-07-21 2016-02-29 2023-01-20 1486 ENSG00000117151 OTTHUMG00000009922 uc001dka.3 M95767 NM_004388 CCDS698 Q01459 "1549114|7606925" MGI:1921495 RGD:621338 600873 3.2.1.- HGNC:2496 "ENST00000370630.6|NM_004388.3" -HGNC:26169 CTC1 CST telomere replication complex component 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ22170|AAF132" "conserved telomere maintenance component 1|alpha accessory factor 132|conserved telomere capping protein 1" C17orf68 "tmp494178|chromosome 17 open reading frame 68|CST telomere maintenance complex component 1" CST complex 1343 2005-12-16 2011-02-21 2016-10-04 2023-01-20 80169 ENSG00000178971 OTTHUMG00000178443 uc002gkq.5 AL831955 NM_025099 "CCDS42259|CCDS92251" Q2NKJ3 "19854130|19854131" MGI:1916214 RGD:1563106 LRG_1124|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1124.xml 613129 317684 HGNC:26169 "ENST00000651323.1|NM_025099.6" HGNC:26169 +HGNC:26169 CTC1 CST telomere replication complex component 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ22170|AAF132" "conserved telomere maintenance component 1|alpha accessory factor 132|conserved telomere capping protein 1" C17orf68 "tmp494178|chromosome 17 open reading frame 68|CST telomere maintenance complex component 1" CST complex 1343 2005-12-16 2011-02-21 2016-10-04 2023-01-20 80169 ENSG00000178971 OTTHUMG00000178443 uc002gkq.5 AL831955 NM_025099 "CCDS92251|CCDS42259" Q2NKJ3 "19854130|19854131" MGI:1916214 RGD:1563106 LRG_1124|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1124.xml 613129 317684 HGNC:26169 "ENST00000651323.1|NM_025099.6" HGNC:26169 HGNC:13723 CTCF CCCTC-binding factor protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FAP108|CFAP108" 11 zinc finger transcriptional repressor CCCTC-binding factor (zinc finger protein) "Zinc fingers C2H2-type|Cilia and flagella associated" "28|1491" 2000-10-20 2016-02-12 2023-01-20 10664 ENSG00000102974 OTTHUMG00000137539 uc002etl.4 U25435 NM_006565 "CCDS10841|CCDS54029|CCDS86536" P49711 "8649389|18550811" MGI:109447 RGD:621344 CTCF 604167 365130 HGNC:13723 "ENST00000264010.10|NM_006565.4" HGNC:13723 HGNC:55409 CTCF-DT CTCF divergent transcript non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 Divergent transcripts 1990 2021-01-06 2021-01-06 107984813 ENSG00000259804 NR_158165 RGD:6493594 -HGNC:16234 CTCFL CCCTC-binding factor like protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "dJ579F20.2|BORIS|CT27" "cancer/testis antigen 27|transcriptional repressor CTCFL|brother of the regulator of imprinted sites" CCCTC-binding factor (zinc finger protein)-like Zinc fingers C2H2-type 28 2001-07-17 2016-02-12 2023-01-20 140690 ENSG00000124092 OTTHUMG00000032829 uc010gjd.2 NM_080618 "CCDS58780|CCDS58779|CCDS68163|CCDS68164|CCDS58778|CCDS58777|CCDS58776|CCDS68161|CCDS58782|CCDS68162|CCDS58781|CCDS13459" Q8NI51 MGI:3652571 RGD:2321501 607022 HGNC:16234 "ENST00000243914.8|NM_001386993.1" +HGNC:16234 CTCFL CCCTC-binding factor like protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "dJ579F20.2|BORIS|CT27" "cancer/testis antigen 27|transcriptional repressor CTCFL|brother of the regulator of imprinted sites" CCCTC-binding factor (zinc finger protein)-like Zinc fingers C2H2-type 28 2001-07-17 2016-02-12 2023-01-20 140690 ENSG00000124092 OTTHUMG00000032829 uc010gjd.2 NM_080618 "CCDS13459|CCDS68161|CCDS68163|CCDS58780|CCDS58779|CCDS68164|CCDS58777|CCDS58781|CCDS58782|CCDS68162|CCDS58778|CCDS58776" Q8NI51 MGI:3652571 RGD:2321501 607022 HGNC:16234 "ENST00000243914.8|NM_001386993.1" HGNC:19085 CTDNEP1 CTD nuclear envelope phosphatase 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "HSA011916|NET56" C-terminal domain nuclear envelope phosphatase 1 DULLARD dullard homolog (Xenopus laevis) CTD family phosphatases 1041 2003-05-22 2010-10-27 2010-10-27 2023-01-20 23399 ENSG00000175826 OTTHUMG00000102180 uc060aky.1 AJ011916 NM_015343 CCDS11093 O95476 "12083771|17141153" MGI:1914431 RGD:1310172 610684 HGNC:19085 "ENST00000574322.6|NM_001143775.2" HGNC:56481 CTDNEP1P1 CTDNEP1 pseudogene 1 pseudogene pseudogene Approved 3q13.31 03q13.31 2022-10-20 2022-10-20 100420528 ENSG00000241889 NG_025726 PGOHUM00000299537 HGNC:56482 CTDNEP1P2 CTDNEP1 pseudogene 2 pseudogene pseudogene Approved 5q13.2 05q13.2 2022-10-20 2022-10-20 100420515 ENSG00000251467 NG_024686 PGOHUM00000301010 HGNC:2498 CTDP1 CTD phosphatase subunit 1 protein-coding gene gene with protein product Approved 18q23 18q23 FCP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 CTD family phosphatases 1041 1999-02-09 2015-11-06 2023-03-15 9150 ENSG00000060069 OTTHUMG00000132920 uc002lnh.3 AF081287 NM_004715 "CCDS12017|CCDS12018" Q9Y5B0 "9405607|9765293" MGI:1926953 RGD:1311755 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_236|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_236.xml" 604927 120873 HGNC:2498 "ENST00000613122.5|NM_004715.5" HGNC:2498 HGNC:26370 CTDP1-DT CTDP1 divergent transcript non-coding RNA RNA, long non-coding Approved 18q23 18q23 Divergent transcripts 1990 2021-10-13 2021-10-13 284241 ENSG00000178412 OTTHUMG00000180271 NR_136643 -HGNC:21614 CTDSP1 CTD small phosphatase 1 protein-coding gene gene with protein product Approved 2q35 02q35 "NLIIF|SCP1" "nuclear LIM interactor-interacting factor|small CTD phosphatase 1" CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 "CTD family phosphatases|MicroRNA protein coding host genes" "1041|1691" 2003-10-27 2015-11-06 2023-01-20 58190 ENSG00000144579 OTTHUMG00000133109 uc002vhy.3 AF229162 "NM_182642|NM_021198" "CCDS56166|CCDS2416" Q9GZU7 "11950066|12721286" MGI:2654470 RGD:1305629 605323 HGNC:21614 "ENST00000273062.7|NM_021198.3" +HGNC:21614 CTDSP1 CTD small phosphatase 1 protein-coding gene gene with protein product Approved 2q35 02q35 "NLIIF|SCP1" "nuclear LIM interactor-interacting factor|small CTD phosphatase 1" CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 "CTD family phosphatases|MicroRNA protein coding host genes" "1041|1691" 2003-10-27 2015-11-06 2023-01-20 58190 ENSG00000144579 OTTHUMG00000133109 uc002vhy.3 AF229162 "NM_182642|NM_021198" "CCDS2416|CCDS56166" Q9GZU7 "11950066|12721286" MGI:2654470 RGD:1305629 605323 HGNC:21614 "ENST00000273062.7|NM_021198.3" HGNC:17077 CTDSP2 CTD small phosphatase 2 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "OS4|SCP2|PSR2" "conserved gene amplified in osteosarcoma|nuclear LIM interactor-interacting factor 2|NLI-interacting factor 2|small CTD phosphatase 2" CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 "CTD family phosphatases|MicroRNA protein coding host genes" "1041|1691" 2003-10-27 2015-11-06 2023-01-20 10106 ENSG00000175215 OTTHUMG00000170483 uc001sqm.4 AF000152 NM_005730 CCDS41801 O14595 "9315096|12721286" MGI:1098748 RGD:2319209 608711 HGNC:17077 "ENST00000398073.7|NM_005730.4" HGNC:16890 CTDSPL CTD small phosphatase like protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "HYA22|SCP3|PSR1|RBSP3" "small CTD phosphatase 3|HYA22 protein|RB protein serine phosphatase from chromosome 3" C3orf8 "chromosome 3 open reading frame 8|CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like" "CTD family phosphatases|MicroRNA protein coding host genes" "1041|1691" 2003-04-03 2003-10-29 2015-11-06 2023-01-20 10217 ENSG00000144677 OTTHUMG00000155942 uc003chg.4 D88153 NM_005808 "CCDS33735|CCDS33734" O15194 "9179494|12543795" MGI:1916524 RGD:1304841 608592 3.1.3.16 HGNC:16890 "ENST00000273179.10|NM_001008392.2" HGNC:26936 CTDSPL2 CTD small phosphatase like 2 protein-coding gene gene with protein product Approved 15q15.3-q21.1 15q15.3-q21.1 "HSPC129|FLJ10523" CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 CTD family phosphatases 1041 2005-09-02 2015-11-06 2023-01-20 51496 ENSG00000137770 OTTHUMG00000131159 uc001ztr.4 AF161478 NM_016396 CCDS10110 Q05D32 MGI:1196405 RGD:1309219 618739 HGNC:26936 "ENST00000260327.9|NM_016396.3" HGNC:55415 CTDSPL2-DT CTDSPL2 divergent transcript non-coding RNA RNA, long non-coding Approved 15q15.3 15q15.3 Divergent transcripts 1990 2021-01-06 2021-01-06 120017340 ENSG00000259595 HGNC:55031 CTDSPL2P1 CTDSPL2 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-05-28 2020-05-28 643605 ENSG00000236988 NG_022626 HGNC:55042 CTDSPL2P2 CTDSPL2 pseudogene 2 pseudogene pseudogene Approved Xq22.3 Xq22.3 2020-06-03 2020-06-03 100131448 ENSG00000230788 NG_022687 -HGNC:2499 CTF1 cardiotrophin 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "CT-1|CT1" Interleukin 6 type cytokine family 1264 1995-05-01 2023-01-20 1489 ENSG00000150281 OTTHUMG00000132413 uc002dzw.3 U43030 NM_001330 "CCDS10694|CCDS45464" Q16619 8833032 MGI:105115 RGD:2442 LRG_408|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_408.xml 600435 470144 ligandId:4906 HGNC:2499 "ENST00000279804.3|NM_001330.5" HGNC:2499 +HGNC:2499 CTF1 cardiotrophin 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "CT-1|CT1" Interleukin 6 type cytokine family 1264 1995-05-01 2023-01-20 1489 ENSG00000150281 OTTHUMG00000132413 uc002dzw.3 U43030 NM_001330 "CCDS45464|CCDS10694" Q16619 8833032 MGI:105115 RGD:2442 LRG_408|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_408.xml 600435 470144 ligandId:4906 HGNC:2499 "ENST00000279804.3|NM_001330.5" HGNC:2499 HGNC:33173 CTF2P cardiotrophin 2, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 NP neuropoietin Interleukin 6 type cytokine family 1264 2006-11-10 2009-12-08 2020-08-14 100289419 ENSG00000230447 OTTHUMG00000154385 NG_005797 15051883 MGI:2684607 HGNC:33173 -HGNC:2501 CTH cystathionine gamma-lyase protein-coding gene gene with protein product Approved 1p31.1 01p31.1 CSE cystathionase (cystathionine gamma-lyase) 1986-01-01 2014-06-24 2023-01-20 1491 ENSG00000116761 OTTHUMG00000009352 uc001dfd.4 BC015807 NM_001902 "CCDS650|CCDS651|CCDS53333" P32929 1339280 MGI:1339968 RGD:2443 607657 120876 objectId:1444 4.4.1.1 HGNC:2501 "ENST00000370938.8|NM_001902.6" HGNC:2501 -HGNC:18831 CTHRC1 collagen triple helix repeat containing 1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 2002-07-22 2023-01-20 115908 ENSG00000164932 OTTHUMG00000164887 uc003ylk.5 BC014245 NM_138455 "CCDS6299|CCDS59110" Q96CG8 15618538 MGI:1915838 RGD:628801 610635 297632 HGNC:18831 "ENST00000330295.10|NM_138455.4" HGNC:18831 +HGNC:2501 CTH cystathionine gamma-lyase protein-coding gene gene with protein product Approved 1p31.1 01p31.1 CSE cystathionase (cystathionine gamma-lyase) 1986-01-01 2014-06-24 2023-01-20 1491 ENSG00000116761 OTTHUMG00000009352 uc001dfd.4 BC015807 NM_001902 "CCDS651|CCDS53333|CCDS650" P32929 1339280 MGI:1339968 RGD:2443 607657 120876 objectId:1444 4.4.1.1 HGNC:2501 "ENST00000370938.8|NM_001902.6" HGNC:2501 +HGNC:18831 CTHRC1 collagen triple helix repeat containing 1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 2002-07-22 2023-01-20 115908 ENSG00000164932 OTTHUMG00000164887 uc003ylk.5 BC014245 NM_138455 "CCDS59110|CCDS6299" Q96CG8 15618538 MGI:1915838 RGD:628801 610635 297632 HGNC:18831 "ENST00000330295.10|NM_138455.4" HGNC:18831 HGNC:50463 CTHRC1P1 collagen triple helix repeat containing 1 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2014-04-30 2014-04-30 106480299 ENSG00000271005 OTTHUMG00000185045 NG_044248 PGOHUM00000241411 HGNC:50463 -HGNC:23925 CTIF cap binding complex dependent translation initiation factor protein-coding gene gene with protein product Approved 18q21.1 18q21.1 KIAA0427 "KIAA0427|CBP80/20-dependent translation initiation factor" "MicroRNA protein coding host genes|MIF4G domain containing proteins" "1691|2128" 2003-12-15 2011-01-20 2016-06-09 2023-01-20 9811 ENSG00000134030 OTTHUMG00000132656 uc002ldc.4 AB007887 NM_014772 "CCDS45864|CCDS11935" O43310 "9455477|19648179" MGI:2685518 RGD:1311887 613178 HGNC:23925 "ENST00000256413.8|NM_014772.3" +HGNC:23925 CTIF cap binding complex dependent translation initiation factor protein-coding gene gene with protein product Approved 18q21.1 18q21.1 KIAA0427 "KIAA0427|CBP80/20-dependent translation initiation factor" "MicroRNA protein coding host genes|MIF4G domain containing proteins" "1691|2128" 2003-12-15 2011-01-20 2016-06-09 2023-01-20 9811 ENSG00000134030 OTTHUMG00000132656 uc002ldc.4 AB007887 NM_014772 "CCDS11935|CCDS45864" O43310 "9455477|19648179" MGI:2685518 RGD:1311887 613178 HGNC:23925 "ENST00000256413.8|NM_014772.3" HGNC:2505 CTLA4 cytotoxic T-lymphocyte associated protein 4 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "CD152|CD|GSE|CTLA-4" "gluten-sensitive enteropathy|celiac disease" "CELIAC3|IDDM12" "celiac disease 3|insulin-dependent diabetes mellitus 12" "CD molecules|V-set domain containing" "471|590" 1989-05-25 2016-01-13 2023-04-17 1493 ENSG00000163599 OTTHUMG00000132877 uc002vak.3 NM_005214 "CCDS42803|CCDS2362" P16410 "3220103|8817351|25213377" MGI:88556 RGD:61975 LRG_1220|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1220.xml 123890 120878 objectId:2743 CD152 HGNC:2505 "ENST00000648405.2|NM_005214.5" HGNC:2505 -HGNC:2509 CTNNA1 catenin alpha 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 CAP102 alpha-E-catenin catenin (cadherin-associated protein), alpha 1 (102kD) Alpha catenins 1543 1993-07-13 2015-11-19 2023-01-20 1495 ENSG00000044115 OTTHUMG00000163502 uc003ldh.4 D13866 NM_001903 "CCDS78064|CCDS34243|CCDS75315" P35221 1924379 MGI:88274 RGD:1359485 116805 436845 HGNC:2509 "ENST00000302763.12|NM_001903.5" HGNC:2509 +HGNC:2509 CTNNA1 catenin alpha 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 CAP102 alpha-E-catenin catenin (cadherin-associated protein), alpha 1 (102kD) Alpha catenins 1543 1993-07-13 2015-11-19 2023-01-20 1495 ENSG00000044115 OTTHUMG00000163502 uc003ldh.4 D13866 NM_001903 "CCDS34243|CCDS75315|CCDS78064" P35221 1924379 MGI:88274 RGD:1359485 116805 436845 HGNC:2509 "ENST00000302763.12|NM_001903.5" HGNC:2509 HGNC:55535 CTNNA1-AS1 CTNNA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 Antisense RNAs 1987 2021-03-24 2021-03-24 105379194 ENSG00000253404 NR_134245 HGNC:2513 CTNNA1P1 catenin alpha 1 pseudogene 1 pseudogene pseudogene Approved 5q22.3 05q22.3 CTNNAP1 "catenin (cadherin-associated protein), alpha pseudogene 1|catenin (cadherin-associated protein), alpha 1 pseudogene 1" 1995-01-10 2009-12-02 2015-11-19 2016-10-05 1498 ENSG00000249026 OTTHUMG00000162908 Z37994 NG_001110 7601473 PGOHUM00000300721 HGNC:2513 -HGNC:2510 CTNNA2 catenin alpha 2 protein-coding gene gene with protein product Approved 2p12 02p12 "CAP-R|CT114" "cadherin-associated protein, related|cancer/testis antigen 114|alpha-N-catenin" catenin (cadherin-associated protein), alpha 2 Alpha catenins 1543 1993-07-13 2015-11-19 2023-01-20 1496 ENSG00000066032 OTTHUMG00000152903 uc010yse.3 NM_004389 "CCDS54371|CCDS62944|CCDS42703|CCDS62945|CCDS74531" P26232 8432524 MGI:88275 RGD:1305060 114025 HGNC:2510 "ENST00000402739.9|NM_001282597.3" HGNC:2510 +HGNC:2510 CTNNA2 catenin alpha 2 protein-coding gene gene with protein product Approved 2p12 02p12 "CAP-R|CT114" "cadherin-associated protein, related|cancer/testis antigen 114|alpha-N-catenin" catenin (cadherin-associated protein), alpha 2 Alpha catenins 1543 1993-07-13 2015-11-19 2023-01-20 1496 ENSG00000066032 OTTHUMG00000152903 uc010yse.3 NM_004389 "CCDS62944|CCDS62945|CCDS54371|CCDS74531|CCDS42703" P26232 8432524 MGI:88275 RGD:1305060 114025 HGNC:2510 "ENST00000402739.9|NM_001282597.3" HGNC:2510 HGNC:40165 CTNNA2-AS1 CTNNA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p12 02p12 Antisense RNAs 1987 2019-07-25 2019-07-25 101927987 ENSG00000229385 OTTHUMG00000152910 NR_110289 HGNC:40165 HGNC:2511 CTNNA3 catenin alpha 3 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "VR22|MGC26194" alpha-T-catenin catenin (cadherin-associated protein), alpha 3 "Alpha catenins|MicroRNA protein coding host genes" "1543|1691" 2000-03-29 2015-11-19 2023-01-20 29119 ENSG00000183230 OTTHUMG00000018334 uc001jmw.3 AF091606 NM_013266 CCDS7269 Q9UI47 "12596047|11590244" MGI:2661445 RGD:1562230 607667 390869 HGNC:2511 "ENST00000433211.7|NM_013266.4" HGNC:2511 HGNC:2512 CTNNAL1 catenin alpha like 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "CLLP|alpha-CATU" "alpha-catulin|alpha2-catulin" "catenin (cadherin-associated protein), alpha-like 1|catenin alpha-like 1" 1998-12-09 2016-03-15 2023-01-20 8727 ENSG00000119326 OTTHUMG00000020466 uc004bdo.3 AF030233 NM_003798 "CCDS6775|CCDS69638" Q9UBT7 9806841 MGI:1859649 RGD:1311434 604785 HGNC:2512 "ENST00000325551.9|NM_003798.4" -HGNC:2514 CTNNB1 catenin beta 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "beta-catenin|armadillo" CTNNB "catenin (cadherin-associated protein), beta 1 (88kD)|catenin (cadherin-associated protein), beta 1, 88kDa|catenin (cadherin-associated protein), beta 1" "Armadillo repeat containing|Beta catenins|Wnt enhanceosome complex" "409|1542|1677" 1993-07-13 2015-11-19 2023-01-20 1499 ENSG00000168036 OTTHUMG00000131393 uc010hia.2 X87838 NM_001098210 "CCDS2694|CCDS87067" P35222 7829088 MGI:88276 RGD:70487 LRG_1108|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1108.xml CTNNB1 116806 120881 ligandId:5371 HGNC:2514 "ENST00000349496.11|NM_001904.4" HGNC:2514 +HGNC:2514 CTNNB1 catenin beta 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "beta-catenin|armadillo" CTNNB "catenin (cadherin-associated protein), beta 1 (88kD)|catenin (cadherin-associated protein), beta 1, 88kDa|catenin (cadherin-associated protein), beta 1" "Armadillo repeat containing|Beta catenins|Wnt enhanceosome complex" "409|1542|1677" 1993-07-13 2015-11-19 2023-01-20 1499 ENSG00000168036 OTTHUMG00000131393 uc010hia.2 X87838 NM_001098210 "CCDS87067|CCDS2694" P35222 7829088 MGI:88276 RGD:70487 LRG_1108|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1108.xml CTNNB1 116806 120881 ligandId:5371 HGNC:2514 "ENST00000349496.11|NM_001904.4" HGNC:2514 HGNC:16913 CTNNBIP1 catenin beta interacting protein 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "ICAT|MGC15093" "beta-catenin-interacting protein ICAT|inhibitor of beta-catenin and Tcf-4" "catenin, beta-interacting protein 1|catenin, beta interacting protein 1" 2001-11-14 2015-11-19 2023-01-20 56998 ENSG00000178585 OTTHUMG00000001796 uc001aqk.2 AB021262 NM_020248 CCDS106 Q9NSA3 10898789 MGI:1915756 RGD:1562749 607758 HGNC:16913 "ENST00000377263.6|NM_020248.3" -HGNC:15879 CTNNBL1 catenin beta like 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "FLJ21108|P14L|P14|NAP|NYD-SP19" nuclear associated protein C20orf33 "chromosome 20 open reading frame 33|catenin, beta like 1" "NineTeen complex|Armadillo like helical domain containing|Spliceosomal C complex" "1361|1492|1510" 2001-06-21 2002-05-31 2015-11-19 2023-01-20 56259 ENSG00000132792 OTTHUMG00000032428 uc061wwh.1 AL023804 NM_030877 "CCDS63269|CCDS13298" Q8WYA6 "12659813|21385873" MGI:1913892 RGD:1563558 611537 HGNC:15879 "ENST00000361383.11|NM_030877.5" HGNC:15879 +HGNC:15879 CTNNBL1 catenin beta like 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "FLJ21108|P14L|P14|NAP|NYD-SP19" nuclear associated protein C20orf33 "chromosome 20 open reading frame 33|catenin, beta like 1" "NineTeen complex|Armadillo like helical domain containing|Spliceosomal C complex" "1361|1492|1510" 2001-06-21 2002-05-31 2015-11-19 2023-01-20 56259 ENSG00000132792 OTTHUMG00000032428 uc061wwh.1 AL023804 NM_030877 "CCDS13298|CCDS63269" Q8WYA6 "12659813|21385873" MGI:1913892 RGD:1563558 611537 HGNC:15879 "ENST00000361383.11|NM_030877.5" HGNC:15879 HGNC:54948 CTNNBL1P1 CTNNBL1 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-05-01 2020-05-01 392456 ENSG00000231235 NG_022597 -HGNC:2515 CTNND1 catenin delta 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "KIAA0384|p120|p120cas|p120ctn" CTNND catenin (cadherin-associated protein), delta 1 "Armadillo repeat containing|p120 catenin family" "409|1539" 1995-09-18 2015-11-19 2023-01-20 1500 ENSG00000198561 OTTHUMG00000167272 uc021qjk.2 AB002382 NM_001331 "CCDS44606|CCDS53634|CCDS53633|CCDS44609|CCDS53632|CCDS55766|CCDS44604|CCDS55764|CCDS55765|CCDS55767|CCDS44608|CCDS73290|CCDS44605|CCDS44607|CCDS55763" O60716 8808291 MGI:105100 RGD:1305643 601045 470146 HGNC:2515 "ENST00000399050.10|NM_001085458.2" HGNC:2515 -HGNC:2516 CTNND2 catenin delta 2 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "NPRAP|GT24" "neural plakophilin-related arm-repeat protein|neurojungin" "catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)|catenin (cadherin-associated protein), delta 2" "Armadillo repeat containing|p120 catenin family" "409|1539" 1997-06-24 2015-11-19 2023-01-20 1501 ENSG00000169862 OTTHUMG00000090511 uc003jfa.3 U52828 NM_001332 "CCDS75228|CCDS75227|CCDS93685|CCDS3881" Q9UQB3 "9342840|9223106" MGI:1195966 RGD:620734 604275 159484 HGNC:2516 "ENST00000304623.13|NM_001332.4" HGNC:2516 -HGNC:2518 CTNS cystinosin, lysosomal cystine transporter protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "CTNS-LSB|PQLC4|SLC66A4" cystinosis, nephropathic Solute carrier family 66 2215 1998-07-15 2011-06-07 2023-03-14 1497 ENSG00000040531 OTTHUMG00000090693 uc002fwb.4 AJ222967 NM_004937 "CCDS92228|CCDS32530|CCDS11031" O60931 "9537412|15128704" MGI:1932872 RGD:1308466 606272 120884 objectId:3163 HGNC:2518 "ENST00000046640.9|NM_004937.3" HGNC:2518 +HGNC:2515 CTNND1 catenin delta 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "KIAA0384|p120|p120cas|p120ctn" CTNND catenin (cadherin-associated protein), delta 1 "Armadillo repeat containing|p120 catenin family" "409|1539" 1995-09-18 2015-11-19 2023-01-20 1500 ENSG00000198561 OTTHUMG00000167272 uc021qjk.2 AB002382 NM_001331 "CCDS55765|CCDS55763|CCDS44609|CCDS55766|CCDS55767|CCDS44605|CCDS73290|CCDS44607|CCDS53633|CCDS44606|CCDS55764|CCDS44608|CCDS53634|CCDS53632|CCDS44604" O60716 8808291 MGI:105100 RGD:1305643 601045 470146 HGNC:2515 "ENST00000399050.10|NM_001085458.2" HGNC:2515 +HGNC:2516 CTNND2 catenin delta 2 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "NPRAP|GT24" "neural plakophilin-related arm-repeat protein|neurojungin" "catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)|catenin (cadherin-associated protein), delta 2" "Armadillo repeat containing|p120 catenin family" "409|1539" 1997-06-24 2015-11-19 2023-01-20 1501 ENSG00000169862 OTTHUMG00000090511 uc003jfa.3 U52828 NM_001332 "CCDS75227|CCDS3881|CCDS75228|CCDS93685" Q9UQB3 "9342840|9223106" MGI:1195966 RGD:620734 604275 159484 HGNC:2516 "ENST00000304623.13|NM_001332.4" HGNC:2516 +HGNC:2518 CTNS cystinosin, lysosomal cystine transporter protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "CTNS-LSB|PQLC4|SLC66A4" cystinosis, nephropathic Solute carrier family 66 2215 1998-07-15 2011-06-07 2023-03-14 1497 ENSG00000040531 OTTHUMG00000090693 uc002fwb.4 AJ222967 NM_004937 "CCDS11031|CCDS92228|CCDS32530" O60931 "9537412|15128704" MGI:1932872 RGD:1308466 606272 120884 objectId:3163 HGNC:2518 "ENST00000046640.9|NM_004937.3" HGNC:2518 HGNC:56090 CTNS-AS1 CTNS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Antisense RNAs 1987 2021-12-20 2021-12-20 105371492 ENSG00000262903 HGNC:2519 CTPS1 CTP synthase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 GATD5A CTPS CTP synthase Glutamine amidotransferase class 1 domain containing 1408 1991-07-12 2012-05-02 2012-05-02 2023-01-20 1503 ENSG00000171793 OTTHUMG00000005712 uc001cgk.5 BC009408 NM_001905 "CCDS459|CCDS90924" P17812 1783378 MGI:1858304 RGD:1311060 LRG_1229|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1229.xml 123860 431591 objectId:3215 6.3.4.2 HGNC:2519 "ENST00000650070.2|NM_001905.4" HGNC:2519 HGNC:2520 CTPS2 CTP synthase 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 GATD5B CTP synthase II "Glutamine amidotransferase class 1 domain containing|MicroRNA protein coding host genes" "1408|1691" 2000-09-01 2012-05-02 2023-01-20 56474 ENSG00000047230 OTTHUMG00000021193 uc004cxm.5 AF086422 NM_019857 CCDS14175 Q9NRF8 10899599 MGI:1933185 RGD:1563369 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CTPS2 300380 objectId:3216 6.3.4.2 HGNC:2520 "ENST00000359276.9|NM_175859.3" @@ -5796,14 +5796,14 @@ HGNC:2523 CTRC chymotrypsin C protein-coding gene gene with protein product Appr HGNC:2524 CTRL chymotrypsin like protein-coding gene gene with protein product Approved 16q22.1 16q22.1 chymotrypsin-like 1993-07-29 2016-03-17 2023-01-20 1506 ENSG00000141086 OTTHUMG00000137552 uc002euw.4 NM_001907 CCDS10852 P40313 8268911 MGI:88558 RGD:621501 118888 S01.256 objectId:2342 HGNC:2524 "ENST00000574481.6|NM_001907.3" HGNC:9251 CTSA cathepsin A protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "carboxypeptidase C|lysosomal protective protein|carboxypeptidase-L|carboxypeptidase Y-like kininase|deamidase|lysosomal carboxypeptidase A|urinary kininase" "GSL|PPGB" protective protein for beta-galactosidase (galactosialidosis) Cathepsins 470 1986-01-01 2006-12-05 2006-12-05 2023-01-20 5476 ENSG00000064601 OTTHUMG00000033078 uc002xqh.4 M22960 NM_000308 CCDS46609 P10619 2071143 MGI:97748 RGD:1309070 613111 120888 S10.002 objectId:1581 3.4.16.5 HGNC:9251 "ENST00000646241.3|NM_000308.4" HGNC:9251 HGNC:2527 CTSB cathepsin B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 Cathepsins 470 2001-06-22 2023-01-20 1508 ENSG00000164733 OTTHUMG00000090799 uc003wuq.4 M14221 NM_147780 CCDS5986 P07858 "8112600|3463996" MGI:88561 RGD:621509 116810 C01.060 objectId:2343 3.4.22.1 HGNC:2527 "ENST00000353047.11|NM_001908.5" HGNC:2527 -HGNC:2528 CTSC cathepsin C protein-coding gene gene with protein product Approved 11q14.2 11q14.2 DPP1 dipeptidyl peptidase 1 "PLS|PALS" Cathepsins 470 1995-11-08 2023-01-20 1075 ENSG00000109861 OTTHUMG00000167290 uc001pck.5 AK223038 NM_001814 "CCDS8282|CCDS44693|CCDS31654" P53634 "7649281|9092576" MGI:109553 RGD:2445 "CTSCbase: Mutation registry for Papillon-Lefevre syndrome|http://structure.bmc.lu.se/idbase/CTSCbase/|LRG_50|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_50.xml" 602365 120892 objectId:2344 3.4.14.1 HGNC:2528 "ENST00000227266.10|NM_001814.6" HGNC:2528 +HGNC:2528 CTSC cathepsin C protein-coding gene gene with protein product Approved 11q14.2 11q14.2 DPP1 dipeptidyl peptidase 1 "PLS|PALS" Cathepsins 470 1995-11-08 2023-01-20 1075 ENSG00000109861 OTTHUMG00000167290 uc001pck.5 AK223038 NM_001814 "CCDS44693|CCDS8282|CCDS31654" P53634 "7649281|9092576" MGI:109553 RGD:2445 "CTSCbase: Mutation registry for Papillon-Lefevre syndrome|http://structure.bmc.lu.se/idbase/CTSCbase/|LRG_50|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_50.xml" 602365 120892 objectId:2344 3.4.14.1 HGNC:2528 "ENST00000227266.10|NM_001814.6" HGNC:2528 HGNC:2529 CTSD cathepsin D protein-coding gene gene with protein product Approved 11p15.5 11p15.5 CLN10 ceroid-lipofuscinosis, neuronal 10 CPSD cathepsin D (lysosomal aspartyl protease) "Cathepsins|Peptidase family A1" "470|1928" 1986-01-01 2006-12-05 2023-01-20 1509 ENSG00000117984 OTTHUMG00000044760 uc001luc.2 M11233 NM_001909 CCDS7725 P07339 3927292 MGI:88562 RGD:621511 Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/ 116840 159489 A01.009 objectId:2345 3.4.23.5 HGNC:2529 "ENST00000236671.7|NM_001909.5" HGNC:2529 HGNC:2530 CTSE cathepsin E protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Cathepsins|Peptidase family A1" "470|1928" 1989-05-19 2023-01-20 1510 ENSG00000196188 OTTHUMG00000036121 uc001hdu.3 BC042537 NM_001910 "CCDS73012|CCDS73013" P14091 "2369841|2674141" MGI:107361 RGD:2446 116890 A01.010 objectId:2346 3.4.23.5 HGNC:2530 "ENST00000358184.7|NM_001910.4" HGNC:2531 CTSF cathepsin F protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "CATSF|CLN13" Cathepsins 470 1998-12-17 2023-01-20 8722 ENSG00000174080 OTTHUMG00000167090 uc001oip.4 AF071749 NM_003793 CCDS8144 Q9UBX1 "9822672|10318784" MGI:1861434 RGD:1308181 603539 356180 C01.018 objectId:2347 HGNC:2531 "ENST00000310325.10|NM_003793.4" HGNC:2531 HGNC:2532 CTSG cathepsin G protein-coding gene gene with protein product Approved 14q12 14q12 CG "Cathepsins|Receptor ligands|Granule associated serine proteases of immune defence" "470|542|1636" 1990-01-22 2023-01-20 1511 ENSG00000100448 OTTHUMG00000140182 uc001wpq.4 M16117 NM_001911 CCDS9631 P08311 2569462 MGI:88563 RGD:1307681 116830 S01.133 ligandId:3570 HGNC:2532 "ENST00000216336.3|NM_001911.3" HGNC:2535 CTSH cathepsin H protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "ACC-4|ACC-5|ACC4|ACC5" CPSB "Cathepsins|Minor histocompatibility antigens" "470|870" 2001-06-22 2023-03-15 1512 ENSG00000103811 OTTHUMG00000144171 uc021srk.2 X07549 NM_004390 "CCDS92047|CCDS10308" P09668 2849458 MGI:107285 RGD:2447 116820 371315 C01.040 objectId:2349 3.4.22.16 HGNC:2535 "ENST00000220166.10|NM_004390.5" HGNC:2536 CTSK cathepsin K protein-coding gene gene with protein product Approved 1q21.3 01q21.3 PKND "CTSO2|CTSO|PYCD" cathepsin K (pycnodysostosis) Cathepsins 470 1995-05-11 2006-12-05 2023-01-20 1513 ENSG00000143387 OTTHUMG00000035008 uc001evp.3 BC016058 NM_000396 CCDS969 P43235 7818555 MGI:107823 RGD:61810 601105 120897 objectId:2350 HGNC:2536 "ENST00000271651.8|NM_000396.4" HGNC:2536 -HGNC:2537 CTSL cathepsin L protein-coding gene gene with protein product Approved 9q21.33 09q21.33 FLJ31037 CTSL1 cathepsin L1 Cathepsins 470 1989-03-06 2013-06-27 2013-06-27 2023-01-20 1514 ENSG00000135047 OTTHUMG00000020149 X12451 NM_001912 "CCDS94433|CCDS94432|CCDS6675" P07711 "8419312|2835398" MGI:88564 RGD:2448 116880 objectId:2351 3.4.22.15 HGNC:2537 "ENST00000343150.10|NM_001912.5" +HGNC:2537 CTSL cathepsin L protein-coding gene gene with protein product Approved 9q21.33 09q21.33 FLJ31037 CTSL1 cathepsin L1 Cathepsins 470 1989-03-06 2013-06-27 2013-06-27 2023-01-20 1514 ENSG00000135047 OTTHUMG00000020149 X12451 NM_001912 "CCDS94433|CCDS6675|CCDS94432" P07711 "8419312|2835398" MGI:88564 RGD:2448 116880 objectId:2351 3.4.22.15 HGNC:2537 "ENST00000343150.10|NM_001912.5" HGNC:33132 CTSL3P cathepsin L family member 3, pseudogene pseudogene pseudogene Approved 9q21.33 09q21.33 HCTSL-s CTSL3 cathepsin L family member 3 2007-04-27 2013-01-07 2013-01-07 2023-03-15 392360 ENSG00000188029 OTTHUMG00000020152 AJ851862 NR_027917 Q5NE16 19663681 RGD:631420 PGOHUM00000304362 I29.001 HGNC:33132 HGNC:2539 CTSLP1 cathepsin L pseudogene 1 pseudogene pseudogene Approved 10q23.2 10q23.2 "CTSLL|CTSLL1|CTSL1P1" "cathepsin L-like 1|cathepsin L1 pseudogene 1" 1993-12-06 2013-06-27 2013-06-27 2020-04-20 118945 ENSG00000236417 OTTHUMG00000018677 L07772 NG_009858 7713509 PGOHUM00000289941 C01.P02 HGNC:2539 HGNC:2540 CTSLP2 cathepsin L pseudogene 2 pseudogene pseudogene Approved 10q11.22 10q11.22 "bA342C24.4|bA144G6.6" "CTSLL2|CTSL1P2|CTSLP5|CTSLL5|CTSL1P5|CTSLP7|CTSLL7|CTSL1P7" "cathepsin L-like 2|cathepsin L1 pseudogene 2|cathepsin L pseudogene 5|cathepsin L-like 5|cathepsin L1 pseudogene 5|cathepsin L pseudogene 7|cathepsin L-like 7|cathepsin L1 pseudogene 7" 1993-12-06 2013-06-27 2013-06-27 2015-02-02 1517 ENSG00000266217 OTTHUMG00000018112 L25628 NR_033407 7713509 PGOHUM00000289848 I29.001 HGNC:2540 @@ -5816,7 +5816,7 @@ HGNC:2545 CTSS cathepsin S protein-coding gene gene with protein product Approve HGNC:2538 CTSV cathepsin V protein-coding gene gene with protein product Approved 9q22.33 09q22.33 CTSU CTSL2 cathepsin L2 Cathepsins 470 1998-08-27 2013-06-27 2013-06-27 2023-01-20 1515 ENSG00000136943 OTTHUMG00000020314 Y14734 NM_001333 CCDS6723 O60911 "9563472|10029531" MGI:88564 603308 objectId:2352 HGNC:2538 "ENST00000259470.6|NM_001333.4" HGNC:2546 CTSW cathepsin W protein-coding gene gene with protein product Approved 11q13.1 11q13.1 cathepsin W (lymphopain) Cathepsins 470 1997-06-12 2006-12-05 2023-01-20 1521 ENSG00000172543 OTTHUMG00000166663 uc001ogc.2 AF055903 NM_001335 CCDS8117 P56202 "9108299|9675123" MGI:1338045 RGD:1309354 602364 C01.037 HGNC:2546 "ENST00000307886.8|NM_001335.4" HGNC:2547 CTSZ cathepsin Z protein-coding gene gene with protein product Approved 20q13.32 20q13.32 CTSX "cathepsin X|carboxypeptidase LB|cathepsin IV|cathepsin B2|cathepsin Y|cathepsin Z1|cysteine-type carboxypeptidase|lysosomal carboxypeptidase B" Cathepsins 470 1998-08-27 2023-01-20 1522 ENSG00000101160 OTTHUMG00000032858 uc002yai.3 AF032906 NM_001336 CCDS13474 Q9UBR2 9642240 MGI:1891190 RGD:708479 603169 C01.013 objectId:2354 HGNC:2547 "ENST00000217131.6|NM_001336.4" -HGNC:3338 CTTN cortactin protein-coding gene gene with protein product Approved 11q13.3 11q13.3 EMS1 ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate) 1994-01-07 2004-06-09 2004-06-08 2023-01-20 2017 ENSG00000085733 OTTHUMG00000134307 uc001opw.5 AJ288897 NM_138565 "CCDS8197|CCDS41680|CCDS53676" Q14247 7685625 MGI:99695 RGD:619839 164765 HGNC:3338 "ENST00000301843.13|NM_005231.4" +HGNC:3338 CTTN cortactin protein-coding gene gene with protein product Approved 11q13.3 11q13.3 EMS1 ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate) 1994-01-07 2004-06-09 2004-06-08 2023-01-20 2017 ENSG00000085733 OTTHUMG00000134307 uc001opw.5 AJ288897 NM_138565 "CCDS53676|CCDS41680|CCDS8197" Q14247 7685625 MGI:99695 RGD:619839 164765 HGNC:3338 "ENST00000301843.13|NM_005231.4" HGNC:55592 CTTN-DT CTTN divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Divergent transcripts 1990 2021-04-28 2021-04-28 121233926 ENSG00000246889 XR_001748289 HGNC:15679 CTTNBP2 cortactin binding protein 2 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 "KIAA1758|Orf4" "CORTBP2|C7orf8" CORTBP2, C7orf8 "Ankyrin repeat domain containing|STRIPAK complex" "403|1371" 2001-05-09 2004-06-09 2004-06-08 2023-01-20 83992 ENSG00000077063 OTTHUMG00000022880 uc003vjf.4 NM_033427 CCDS5774 Q8WZ74 11707066 MGI:1353467 RGD:628691 609772 470148 HGNC:15679 "ENST00000160373.8|NM_033427.3" HGNC:15679 HGNC:25330 CTTNBP2NL CTTNBP2 N-terminal like protein-coding gene gene with protein product Approved 1p13.2 01p13.2 DKFZp547A023 STRIPAK complex 1371 2005-08-12 2023-01-20 55917 ENSG00000143079 OTTHUMG00000011154 uc001ebx.4 AB037854 NM_018704 CCDS845 Q9P2B4 10718198 MGI:1933137 RGD:1310822 615100 HGNC:25330 "ENST00000271277.11|NM_018704.3" @@ -5836,19 +5836,19 @@ HGNC:31350 CUEDC1 CUE domain containing 1 protein-coding gene gene with protein HGNC:28352 CUEDC2 CUE domain containing 2 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 MGC2491 C10orf66 chromosome 10 open reading frame 66 2004-01-28 2004-03-05 2004-03-04 2023-01-20 79004 ENSG00000107874 OTTHUMG00000018958 uc001kvn.3 BC000262 NM_024040 CCDS41566 Q9H467 24685480 MGI:1914366 RGD:1308096 614142 HGNC:28352 "ENST00000369937.5|NM_024040.3" HGNC:2551 CUL1 cullin 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "Cullins|SCF complex core subunits" "1032|2126" 1998-10-29 2023-01-20 8454 ENSG00000055130 OTTHUMG00000152776 uc010lpg.4 U58087 NM_003592 CCDS34772 Q13616 8681378 MGI:1349658 RGD:1308157 LRG_1407|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1407.xml 603134 HGNC:2551 "ENST00000325222.9|NM_003592.3" HGNC:49567 CUL1P1 cullin 1 pseudogene 1 pseudogene pseudogene Approved 5q23.2 05q23.2 2014-01-15 2014-01-15 100288463 ENSG00000251032 OTTHUMG00000163286 NG_021863 PGOHUM00000235391 HGNC:49567 -HGNC:2552 CUL2 cullin 2 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "Cullins|MicroRNA protein coding host genes" "1032|1691" 1998-10-29 2023-01-20 8453 ENSG00000108094 OTTHUMG00000017950 uc001ixw.3 U83410 NM_003591 "CCDS91236|CCDS73086|CCDS55709|CCDS7179" Q13617 8681378 MGI:1918995 RGD:1310644 603135 HGNC:2552 "ENST00000374749.8|NM_003591.4" +HGNC:2552 CUL2 cullin 2 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "Cullins|MicroRNA protein coding host genes" "1032|1691" 1998-10-29 2023-01-20 8453 ENSG00000108094 OTTHUMG00000017950 uc001ixw.3 U83410 NM_003591 "CCDS73086|CCDS55709|CCDS91236|CCDS7179" Q13617 8681378 MGI:1918995 RGD:1310644 603135 HGNC:2552 "ENST00000374749.8|NM_003591.4" HGNC:2553 CUL3 cullin 3 protein-coding gene gene with protein product Approved 2q36.2 02q36.2 Cullins 1032 1998-10-29 2023-01-20 8452 ENSG00000036257 OTTHUMG00000133167 uc002vny.4 U58089 NM_001257197 "CCDS58751|CCDS2462" Q13618 "8681378|17192413" MGI:1347360 RGD:1308190 603136 303805 HGNC:2553 "ENST00000264414.9|NM_003590.5" HGNC:2553 -HGNC:2554 CUL4A cullin 4A protein-coding gene gene with protein product Approved 13q34 13q34 "Cullins|MicroRNA protein coding host genes" "1032|1691" 1998-10-29 2023-01-20 8451 ENSG00000139842 OTTHUMG00000017384 uc021rmv.3 U58090 NM_003589 "CCDS41908|CCDS9533|CCDS73604|CCDS86363" Q13619 8681378 MGI:1914487 RGD:1563853 603137 HGNC:2554 "ENST00000375440.9|NM_001008895.4" +HGNC:2554 CUL4A cullin 4A protein-coding gene gene with protein product Approved 13q34 13q34 "Cullins|MicroRNA protein coding host genes" "1032|1691" 1998-10-29 2023-01-20 8451 ENSG00000139842 OTTHUMG00000017384 uc021rmv.3 U58090 NM_003589 "CCDS9533|CCDS41908|CCDS86363|CCDS73604" Q13619 8681378 MGI:1914487 RGD:1563853 603137 HGNC:2554 "ENST00000375440.9|NM_001008895.4" HGNC:44027 CUL4AP1 cullin 4A pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 2012-05-28 2012-05-28 100129008 ENSG00000248139 OTTHUMG00000161138 NG_022031 PGOHUM00000245668 HGNC:44027 -HGNC:2555 CUL4B cullin 4B protein-coding gene gene with protein product Approved Xq24 Xq24 Cullins 1032 1998-10-29 2023-01-20 8450 ENSG00000158290 OTTHUMG00000022302 uc004esw.4 U58091 NM_003588 "CCDS43987|CCDS83487|CCDS35379|CCDS94662" Q13620 8681378 MGI:1919834 RGD:1564494 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CUL4B 300304 120908 HGNC:2555 "ENST00000371322.11|NM_001079872.2" HGNC:2555 +HGNC:2555 CUL4B cullin 4B protein-coding gene gene with protein product Approved Xq24 Xq24 Cullins 1032 1998-10-29 2023-01-20 8450 ENSG00000158290 OTTHUMG00000022302 uc004esw.4 U58091 NM_003588 "CCDS43987|CCDS83487|CCDS94662|CCDS35379" Q13620 8681378 MGI:1919834 RGD:1564494 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CUL4B 300304 120908 HGNC:2555 "ENST00000371322.11|NM_001079872.2" HGNC:2555 HGNC:2556 CUL5 cullin 5 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 VACM-1 Cullins 1032 1998-12-23 2023-01-20 8065 ENSG00000166266 OTTHUMG00000166369 uc001pjv.4 X81882 NM_003478 CCDS31668 Q93034 "8681378|9037604" MGI:1922967 RGD:621742 601741 HGNC:2556 "ENST00000393094.7|NM_003478.6" -HGNC:21024 CUL7 cullin 7 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 dJ20C7.5 KIAA0076 KIAA0076 Cullins 1032 2003-11-21 2004-03-22 2004-03-22 2023-01-20 9820 ENSG00000044090 OTTHUMG00000014718 uc003otq.4 BC033647 NM_014780 "CCDS55003|CCDS4881" Q14999 "12481031|12904573" MGI:1913765 RGD:1587048 609577 120910 HGNC:21024 "ENST00000265348.9|NM_014780.5" HGNC:21024 +HGNC:21024 CUL7 cullin 7 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 dJ20C7.5 KIAA0076 KIAA0076 Cullins 1032 2003-11-21 2004-03-22 2004-03-22 2023-01-20 9820 ENSG00000044090 OTTHUMG00000014718 uc003otq.4 BC033647 NM_014780 "CCDS4881|CCDS55003" Q14999 "12481031|12904573" MGI:1913765 RGD:1587048 609577 120910 HGNC:21024 "ENST00000265348.9|NM_014780.5" HGNC:21024 HGNC:15982 CUL9 cullin 9 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "H7AP1|KIAA0708|PARC" "parkin-like cytoplasmic p53 binding protein|p53-associated parkin-like cytoplasmic protein" "Cullins|RBR E3 ubiquitin ligases|Armadillo like helical domain containing" "1032|1391|1492" 2009-01-07 2023-01-20 23113 ENSG00000112659 OTTHUMG00000014723 uc003ouk.4 AB014608 NM_015089 CCDS4890 Q8IWT3 "17332328|10521492|12526791" MGI:1925559 RGD:1562008 607489 HGNC:15982 "ENST00000252050.9|NM_015089.4" HGNC:54490 CUPIN1P cupin superfamily member 1, pseudogene pseudogene pseudogene Approved 18q21.2 18q21.2 2019-10-22 2020-01-21 116435282 ENSG00000283613 OTTHUMG00000191730 NG_067176 -HGNC:21101 CUTA cutA divalent cation tolerance homolog protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "C6orf82|ACHAP" "chromosome 6 open reading frame 82|acetylcholinesterase-associated protein|cutA divalent cation tolerance homolog (E. coli)" 2003-05-19 2006-02-15 2016-07-19 2023-01-20 51596 ENSG00000112514 OTTHUMG00000031254 uc003oen.2 AF106943 NM_015921 "CCDS34433|CCDS4779" O60888 "22351782|25557959" MGI:1914925 RGD:1303306 616953 HGNC:21101 "ENST00000488034.6|NM_001014840.2" +HGNC:21101 CUTA cutA divalent cation tolerance homolog protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "C6orf82|ACHAP" "chromosome 6 open reading frame 82|acetylcholinesterase-associated protein|cutA divalent cation tolerance homolog (E. coli)" 2003-05-19 2006-02-15 2016-07-19 2023-01-20 51596 ENSG00000112514 OTTHUMG00000031254 uc003oen.2 AF106943 NM_015921 "CCDS4779|CCDS34433" O60888 "22351782|25557959" MGI:1914925 RGD:1303306 616953 HGNC:21101 "ENST00000488034.6|NM_001014840.2" HGNC:27367 CUTALP cutA divalent cation tolerance like, pseudogene pseudogene pseudogene Approved 9q33.2 09q33.2 PSMD5-AS1 "PSMD5 antisense RNA 1 (head to head)|cutA divalent cation tolerance homolog-like, pseudogene" 2013-06-07 2017-09-27 2019-12-17 2019-12-17 253039 ENSG00000226752 OTTHUMG00000020572 NR_024408 12477932 MGI:1925246 PSMD5-AS1 HGNC:27367 HGNC:24271 CUTC cutC copper transporter protein-coding gene gene with protein product Approved 10q24.2 10q24.2 CGI-32 cutC copper transporter homolog (E. coli) 2004-04-20 2013-07-31 2023-01-20 51076 ENSG00000119929 OTTHUMG00000018889 uc001kqd.5 AF132966 NM_015960 CCDS7483 Q9NTM9 16182249 MGI:1913638 RGD:1304966 610101 HGNC:24271 "ENST00000370476.10|NM_015960.3" -HGNC:2557 CUX1 cut like homeobox 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CDP|CDP1|CUX|CUT|Clox|CDP/Cut|CDP/Cux|Cux/CDP|CASP|GOLIM6" "golgi integral membrane protein 6|CUX1 gene Alternatively Spliced Product" CUTL1 "cut (Drosophila)-like 1 (CCAAT displacement protein)|cut-like 1, CCAAT displacement protein (Drosophila)|cut-like homeobox 1" "CUT class homeoboxes and pseudogenes|Golgins" "527|1084" 1992-12-13 2007-11-07 2016-03-08 2023-01-20 1523 ENSG00000257923 OTTHUMG00000157129 uc003uyx.4 M74099 NM_001913 "CCDS56498|CCDS56499|CCDS5720|CCDS59071|CCDS47672|CCDS5721|CCDS56500" "P39880|Q13948" "8468066|9799793|15004235" MGI:88568 RGD:620618 LRG_1123|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1123.xml CUX1 116896 8526 470150 HGNC:2557 "ENST00000292535.12|NM_181552.4" HGNC:2557 +HGNC:2557 CUX1 cut like homeobox 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CDP|CDP1|CUX|CUT|Clox|CDP/Cut|CDP/Cux|Cux/CDP|CASP|GOLIM6" "golgi integral membrane protein 6|CUX1 gene Alternatively Spliced Product" CUTL1 "cut (Drosophila)-like 1 (CCAAT displacement protein)|cut-like 1, CCAAT displacement protein (Drosophila)|cut-like homeobox 1" "CUT class homeoboxes and pseudogenes|Golgins" "527|1084" 1992-12-13 2007-11-07 2016-03-08 2023-01-20 1523 ENSG00000257923 OTTHUMG00000157129 uc003uyx.4 M74099 NM_001913 "CCDS56500|CCDS5720|CCDS5721|CCDS59071|CCDS56499|CCDS47672|CCDS56498" "P39880|Q13948" "8468066|9799793|15004235" MGI:88568 RGD:620618 LRG_1123|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1123.xml CUX1 116896 8526 470150 HGNC:2557 "ENST00000292535.12|NM_181552.4" HGNC:2557 HGNC:19347 CUX2 cut like homeobox 2 protein-coding gene gene with protein product Approved 12q24.11-q24.12 12q24.11-q24.12 "KIAA0293|CDP2" CUTL2 "cut-like 2 (Drosophila)|cut-like homeobox 2" "CUT class homeoboxes and pseudogenes|MicroRNA protein coding host genes" "527|1691" 2002-10-08 2007-11-07 2016-03-08 2023-01-20 23316 ENSG00000111249 OTTHUMG00000169546 uc001tsa.4 AB006631 NM_015267 CCDS41837 O14529 MGI:107321 RGD:1305967 610648 8527 470152 HGNC:19347 "ENST00000261726.11|NM_015267.4" HGNC:19347 HGNC:33694 CUX2P1 cut like homeobox 2 pseudogene 1 pseudogene pseudogene Approved 10p14 10p14 cut-like homeobox 2 pseudogene 1 CUT class homeoboxes and pseudogenes 527 2007-11-07 2016-03-08 2016-03-08 100126596 ENSG00000272436 OTTHUMG00000185574 NG_028748 8889 PGOHUM00000289739 HGNC:33694 HGNC:33695 CUX2P2 cut like homeobox 2 pseudogene 2 pseudogene pseudogene Approved 4q32.1 04q32.1 cut-like homeobox 2 pseudogene 2 CUT class homeoboxes and pseudogenes 527 2007-11-07 2016-03-08 2016-03-08 100126597 8888 @@ -5856,13 +5856,13 @@ HGNC:17937 CUZD1 CUB and zona pellucida like domains 1 protein-coding gene gene HGNC:26939 CWC15 CWC15 spliceosome associated protein homolog protein-coding gene gene with protein product Approved 11q21 11q21 "C11orf5|HSPC148|Cwf15|AD002" "CWC15 homolog (S. cerevisiae)|CWC15 spliceosome-associated protein homolog (S. cerevisiae)|CWC15 spliceosome-associated protein" "NineTeen complex|NTC associated proteins|Spliceosomal C complex" "1361|1498|1510" 2007-08-02 2016-08-08 2023-01-20 51503 ENSG00000150316 OTTHUMG00000181616 uc031ybh.1 AF161497 NM_016403 CCDS73369 Q9P013 "10873569|11884590" MGI:1913320 RGD:1310669 HGNC:26939 "ENST00000279839.8|NM_016403.4" HGNC:29322 CWC22 CWC22 spliceosome associated protein homolog protein-coding gene gene with protein product Approved 2q31.3 02q31.3 "KIAA1604|EIF4GL|fSAPb|NCM" functional spliceosome-associated protein b "CWC22 spliceosome-associated protein homolog (S. cerevisiae)|CWC22 spliceosome-associated protein|CWC22 homolog, spliceosome-associated protein" "NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex|MIF4G domain containing proteins" "1498|1508|1510|1516|2128" 2008-11-27 2016-08-08 2023-01-20 57703 ENSG00000163510 OTTHUMG00000154244 uc010frh.2 NM_020943 CCDS46465 Q9HCG8 "9136012|23236153" MGI:2136773 RGD:1565385 615186 HGNC:29322 "ENST00000410053.8|NM_020943.3" HGNC:25989 CWC25 CWC25 spliceosome associated protein homolog protein-coding gene gene with protein product Approved 17q12 17q12 FLJ20291 CCDC49 "coiled-coil domain containing 49|CWC25 spliceosome-associated protein homolog (S. cerevisiae)" "NTC associated proteins|Spliceosomal Bact complex" "1498|1508" 2005-12-19 2010-01-26 2016-06-29 2023-01-20 54883 ENSG00000273559 OTTHUMG00000188505 uc002hqu.5 AK000298 NM_017748 CCDS45663 Q9NXE8 19941820 MGI:1914730 RGD:1305258 HGNC:25989 "ENST00000614790.5|NM_017748.5" -HGNC:10664 CWC27 CWC27 spliceosome associated cyclophilin protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "NY-CO-10|SDCCAG-10" SDCCAG10 "serologically defined colon cancer antigen 10|CWC27 spliceosome-associated protein homolog (S. cerevisiae)|CWC27 spliceosome-associated protein homolog|CWC27 spliceosome associated protein homolog" "Cyclophilin peptidylprolyl isomerases|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "909|1498|1508|1510|1516" 1999-07-23 2010-01-26 2019-04-09 2023-01-20 10283 ENSG00000153015 OTTHUMG00000074069 uc003jtn.2 AF039692 NM_005869 "CCDS75252|CCDS93720|CCDS93719|CCDS93718|CCDS3982" Q6UX04 "9610721|19941820|28285769" MGI:1914535 RGD:1310697 617170 HGNC:10664 "ENST00000381070.8|NM_005869.4" HGNC:10664 +HGNC:10664 CWC27 CWC27 spliceosome associated cyclophilin protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "NY-CO-10|SDCCAG-10" SDCCAG10 "serologically defined colon cancer antigen 10|CWC27 spliceosome-associated protein homolog (S. cerevisiae)|CWC27 spliceosome-associated protein homolog|CWC27 spliceosome associated protein homolog" "Cyclophilin peptidylprolyl isomerases|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "909|1498|1508|1510|1516" 1999-07-23 2010-01-26 2019-04-09 2023-01-20 10283 ENSG00000153015 OTTHUMG00000074069 uc003jtn.2 AF039692 NM_005869 "CCDS93718|CCDS93719|CCDS93720|CCDS75252|CCDS3982" Q6UX04 "9610721|19941820|28285769" MGI:1914535 RGD:1310697 617170 HGNC:10664 "ENST00000381070.8|NM_005869.4" HGNC:10664 HGNC:25613 CWF19L1 CWF19 like cell cycle control factor 1 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FLJ10998|hDrn1" human Dbr1 associated ribonuclease 1 CWF19 like 1, cell cycle control (S. pombe) Small nucleolar RNA protein coding host genes 1835 2004-03-08 2018-06-29 2023-01-20 55280 ENSG00000095485 OTTHUMG00000018901 uc001kqq.1 AK001860 NM_018294 CCDS7489 Q69YN2 "14702039|25671812" MGI:1919752 RGD:1304716 616120 457556 HGNC:25613 "ENST00000354105.10|NM_018294.6" HGNC:25613 HGNC:26508 CWF19L2 CWF19 like cell cycle control factor 2 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 FLJ32343 CWF19 like 2, cell cycle control (S. pombe) 2004-03-08 2018-06-29 2023-01-20 143884 ENSG00000152404 OTTHUMG00000152975 uc010rvp.3 AK056905 NM_152434 CCDS8336 Q2TBE0 14702039 MGI:1918023 RGD:1310083 HGNC:26508 "ENST00000282251.10|NM_152434.3" HGNC:26133 CWH43 cell wall biogenesis 43 C-terminal homolog protein-coding gene gene with protein product Approved 4p11 04p11 "FLJ21511|CWH43-C|PGAP2IP" cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 2009-07-28 2015-07-02 2023-01-20 80157 ENSG00000109182 OTTHUMG00000128627 uc003gyv.4 NM_025087 "CCDS3486|CCDS68697" Q9H720 "17714445|17761529" MGI:2444131 RGD:1310958 618561 HGNC:26133 "ENST00000226432.9|NM_025087.3" HGNC:10647 CX3CL1 C-X3-C motif chemokine ligand 1 protein-coding gene gene with protein product Approved 16q21 16q21 "NTN|C3Xkine|ABCD-3|CXC3C|CXC3" "fractalkine|neurotactin" SCYD1 "small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)|chemokine (C-X3-C motif) ligand 1" Chemokine ligands 483 1997-08-22 2002-08-23 2016-03-01 2023-01-20 6376 ENSG00000006210 OTTHUMG00000133469 uc002eli.4 U84487 NM_002996 CCDS10779 P78423 "9177350|9024663" MGI:1097153 RGD:620458 601880 ligandId:856 HGNC:10647 "ENST00000006053.7|NM_002996.6" -HGNC:2558 CX3CR1 C-X3-C motif chemokine receptor 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "CMKDR1|V28|CCRL1" "GPR13|CMKBRL1" "chemokine (C-X3-C) receptor 1|chemokine (C-X3-C motif) receptor 1" C-X-3-C motif chemokine receptors 1093 1998-01-12 2016-03-14 2023-01-20 1524 ENSG00000168329 OTTHUMG00000156249 uc021wwb.2 BC028078 NM_001337 "CCDS43069|CCDS54571" P49238 "9726990|7646814" MGI:1333815 RGD:620137 601470 260326 objectId:74 HGNC:2558 "ENST00000399220.3|NM_001337.4" -HGNC:2559 CXADR CXADR Ig-like cell adhesion molecule protein-coding gene gene with protein product Approved 21q21.1 21q21.1 CAR "coxsackie virus and adenovirus receptor|CXADR, Ig-like cell adhesion molecule" "V-set domain containing|IgCAM CXADR-related subfamily" "590|1414" 1998-03-24 2019-01-25 2023-01-20 1525 ENSG00000154639 OTTHUMG00000074508 uc002yki.4 Y07593 NM_001207063 "CCDS56204|CCDS56206|CCDS33519|CCDS56205|CCDS56207" P78310 "9036860|9096397|20813955" MGI:1201679 RGD:619794 602621 HGNC:2559 "ENST00000284878.12|NM_001338.5" +HGNC:2558 CX3CR1 C-X3-C motif chemokine receptor 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "CMKDR1|V28|CCRL1" "GPR13|CMKBRL1" "chemokine (C-X3-C) receptor 1|chemokine (C-X3-C motif) receptor 1" C-X-3-C motif chemokine receptors 1093 1998-01-12 2016-03-14 2023-01-20 1524 ENSG00000168329 OTTHUMG00000156249 uc021wwb.2 BC028078 NM_001337 "CCDS54571|CCDS43069" P49238 "9726990|7646814" MGI:1333815 RGD:620137 601470 260326 objectId:74 HGNC:2558 "ENST00000399220.3|NM_001337.4" +HGNC:2559 CXADR CXADR Ig-like cell adhesion molecule protein-coding gene gene with protein product Approved 21q21.1 21q21.1 CAR "coxsackie virus and adenovirus receptor|CXADR, Ig-like cell adhesion molecule" "V-set domain containing|IgCAM CXADR-related subfamily" "590|1414" 1998-03-24 2019-01-25 2023-01-20 1525 ENSG00000154639 OTTHUMG00000074508 uc002yki.4 Y07593 NM_001207063 "CCDS33519|CCDS56205|CCDS56204|CCDS56207|CCDS56206" P78310 "9036860|9096397|20813955" MGI:1201679 RGD:619794 602621 HGNC:2559 "ENST00000284878.12|NM_001338.5" HGNC:23770 CXADRP1 CXADR pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 "CAR|CXADRP" coxsackie virus and adenovirus receptor pseudogene 1 2008-01-31 2017-05-02 2017-05-02 653108 ENSG00000214319 OTTHUMG00000074204 NG_008739 PGOHUM00000258119 HGNC:23770 HGNC:33973 CXADRP2 CXADR pseudogene 2 pseudogene pseudogene Approved 15q11.2 15q11.2 coxsackie virus and adenovirus receptor pseudogene 2 2008-01-31 2017-05-02 2017-10-25 646243 ENSG00000258712 OTTHUMG00000171728 NR_024387 PGOHUM00000292809 HGNC:33973 HGNC:33974 CXADRP3 CXADR pseudogene 3 pseudogene pseudogene Approved 18p11.21 18p11.21 coxsackie virus and adenovirus receptor pseudogene 3 2008-01-31 2017-05-02 2017-05-02 440224 ENSG00000265766 OTTHUMG00000178700 uc010xai.3 NR_024076 PGOHUM00000234879 HGNC:33974 @@ -5872,11 +5872,11 @@ HGNC:4603 CXCL2 C-X-C motif chemokine ligand 2 protein-coding gene gene with pro HGNC:4604 CXCL3 C-X-C motif chemokine ligand 3 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB3|GROg|MIP-2b|CINC-2b" GRO3 "GRO3 oncogene|chemokine (C-X-C motif) ligand 3" Chemokine ligands 483 1991-05-21 2002-08-23 2016-03-01 2023-01-20 2921 ENSG00000163734 OTTHUMG00000160861 uc003hhl.5 M36821 NM_002090 CCDS34007 P19876 2217207 "MGI:1340094|MGI:3037818" 139111 ligandId:828 HGNC:4604 "ENST00000296026.4|NM_002090.3" HGNC:10642 CXCL5 C-X-C motif chemokine ligand 5 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 ENA-78 SCYB5 "small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)|chemokine (C-X-C motif) ligand 5" Chemokine ligands 483 1996-09-03 2002-08-23 2016-03-01 2023-01-20 6374 ENSG00000163735 OTTHUMG00000160871 uc003hhk.5 X78686 NM_002994 CCDS34006 P42830 7929219 MGI:1096868 600324 ligandId:829 HGNC:10642 "ENST00000296027.5|NM_002994.5" HGNC:10643 CXCL6 C-X-C motif chemokine ligand 6 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "GCP-2|CKA-3" granulocyte chemotactic protein 2 SCYB6 "small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)|chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)|chemokine (C-X-C motif) ligand 6" Chemokine ligands 483 1997-10-09 2002-08-23 2016-03-01 2023-01-20 6372 ENSG00000124875 OTTHUMG00000130010 uc003hhf.4 U83303 NM_002993 CCDS3560 P80162 9465307 MGI:1096868 RGD:708540 138965 ligandId:820 HGNC:10643 "ENST00000226317.10|NM_002993.4" -HGNC:6025 CXCL8 C-X-C motif chemokine ligand 8 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB8|LUCT|LECT|MDNCF|TSG-1|IL-8|NAP-1|3-10C|MONAP|AMCF-I|LYNAP|NAF|b-ENAP|GCP-1|K60|GCP1|NAP1" "neutrophil-activating peptide 1|granulocyte chemotactic protein 1|monocyte-derived neutrophil chemotactic factor|lung giant cell carcinoma-derived chemotactic protein|tumor necrosis factor-induced gene 1|monocyte-derived neutrophil-activating peptide|lymphocyte derived neutrophil activating peptide|beta endothelial cell-derived neutrophil activating peptide|alveolar macrophage chemotactic factor I" IL8 "interleukin 8|chemokine (C-X-C motif) ligand 8" "Chemokine ligands|Interleukins" "483|601" 1989-06-30 2014-04-10 2016-03-01 2023-01-20 3576 ENSG00000169429 OTTHUMG00000151316 Y00787 NM_000584 "CCDS34005|CCDS87231" P10145 "1427896|11178128" 146930 ligandId:821 HGNC:6025 "ENST00000307407.8|NM_000584.4" +HGNC:6025 CXCL8 C-X-C motif chemokine ligand 8 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB8|LUCT|LECT|MDNCF|TSG-1|IL-8|NAP-1|3-10C|MONAP|AMCF-I|LYNAP|NAF|b-ENAP|GCP-1|K60|GCP1|NAP1" "neutrophil-activating peptide 1|granulocyte chemotactic protein 1|monocyte-derived neutrophil chemotactic factor|lung giant cell carcinoma-derived chemotactic protein|tumor necrosis factor-induced gene 1|monocyte-derived neutrophil-activating peptide|lymphocyte derived neutrophil activating peptide|beta endothelial cell-derived neutrophil activating peptide|alveolar macrophage chemotactic factor I" IL8 "interleukin 8|chemokine (C-X-C motif) ligand 8" "Chemokine ligands|Interleukins" "483|601" 1989-06-30 2014-04-10 2016-03-01 2023-01-20 3576 ENSG00000169429 OTTHUMG00000151316 Y00787 NM_000584 "CCDS87231|CCDS34005" P10145 "1427896|11178128" 146930 ligandId:821 HGNC:6025 "ENST00000307407.8|NM_000584.4" HGNC:7098 CXCL9 C-X-C motif chemokine ligand 9 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "SCYB9|Humig|crg-10" "CMK|MIG" "monokine induced by gamma interferon|chemokine (C-X-C motif) ligand 9" Chemokine ligands 483 1996-05-28 2002-08-23 2016-03-01 2023-01-20 4283 ENSG00000138755 OTTHUMG00000160889 uc003hjh.2 X72755 NM_002416 CCDS34014 Q07325 "8476424|9730616" MGI:1352449 RGD:628798 601704 ligandId:837 HGNC:7098 "ENST00000264888.6|NM_002416.3" HGNC:10637 CXCL10 C-X-C motif chemokine ligand 10 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "IFI10|IP-10|crg-2|mob-1|C7|gIP-10" "INP10|SCYB10" "small inducible cytokine subfamily B (Cys-X-Cys), member 10|chemokine (C-X-C motif) ligand 10" Chemokine ligands 483 1999-12-09 2002-08-23 2016-03-01 2023-01-20 3627 ENSG00000169245 OTTHUMG00000160887 uc003hjl.5 X02530 NM_001565 CCDS43240 P02778 "2437586|3925348" MGI:1352450 RGD:620209 147310 ligandId:835 HGNC:10637 "ENST00000306602.3|NM_001565.4" HGNC:10638 CXCL11 C-X-C motif chemokine ligand 11 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "H174|b-R1|I-TAC|IP-9" "SCYB9B|SCYB11" "small inducible cytokine subfamily B (Cys-X-Cys), member 11|chemokine (C-X-C motif) ligand 11" Chemokine ligands 483 1998-06-23 2002-08-23 2016-03-01 2023-01-20 6373 ENSG00000169248 OTTHUMG00000130101 uc062xkv.1 U66096 NM_001302123 CCDS3574 O14625 9730616 MGI:1860203 RGD:727827 604852 ligandId:836 HGNC:10638 "ENST00000306621.8|NM_005409.5" -HGNC:10672 CXCL12 C-X-C motif chemokine ligand 12 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "SCYB12|SDF-1a|SDF-1b|PBSF|TLSF-a|TLSF-b|TPAR1" "SDF1A|SDF1B|SDF1" "stromal cell-derived factor 1|chemokine (C-X-C motif) ligand 12" Chemokine ligands 483 1994-11-30 2002-08-23 2016-03-01 2023-01-20 6387 ENSG00000107562 OTTHUMG00000018054 uc001jbi.4 L36033 NM_000609 "CCDS44373|CCDS60518|CCDS53527|CCDS7207|CCDS31186" P48061 7490086 MGI:103556 RGD:3651 600835 ligandId:8531 HGNC:10672 "ENST00000343575.11|NM_199168.4" +HGNC:10672 CXCL12 C-X-C motif chemokine ligand 12 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "SCYB12|SDF-1a|SDF-1b|PBSF|TLSF-a|TLSF-b|TPAR1" "SDF1A|SDF1B|SDF1" "stromal cell-derived factor 1|chemokine (C-X-C motif) ligand 12" Chemokine ligands 483 1994-11-30 2002-08-23 2016-03-01 2023-01-20 6387 ENSG00000107562 OTTHUMG00000018054 uc001jbi.4 L36033 NM_000609 "CCDS60518|CCDS53527|CCDS7207|CCDS44373|CCDS31186" P48061 7490086 MGI:103556 RGD:3651 600835 ligandId:8531 HGNC:10672 "ENST00000343575.11|NM_199168.4" HGNC:10639 CXCL13 C-X-C motif chemokine ligand 13 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "BLC|BCA-1|BLR1L|ANGIE|ANGIE2" B-cell chemoattractant SCYB13 "small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)|chemokine (C-X-C motif) ligand 13" Chemokine ligands 483 2000-09-05 2002-08-23 2016-03-01 2023-01-20 10563 ENSG00000156234 OTTHUMG00000130201 uc003hkr.5 AJ002211 NM_001371558 CCDS3582 O43927 "9463416|9486651" MGI:1888499 RGD:1564256 605149 ligandId:3645 HGNC:10639 "ENST00000682537.1|NM_001371558.1" HGNC:10640 CXCL14 C-X-C motif chemokine ligand 14 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "BRAK|NJAC|bolekine|Kec|MIP-2g|BMAC|KS1" breast and kidney SCYB14 "small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)|chemokine (C-X-C motif) ligand 14" Chemokine ligands 483 1999-07-30 2002-08-23 2016-03-01 2023-01-20 9547 ENSG00000145824 OTTHUMG00000129139 uc003lay.4 AF073957 NM_004887 CCDS4188 O95715 10049774 MGI:1888514 RGD:1307406 604186 ligandId:3680 HGNC:10640 "ENST00000512158.6|NM_004887.5" HGNC:16642 CXCL16 C-X-C motif chemokine ligand 16 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "SR-PSOX|CXCLG16|SRPSOX" CXC chemokine ligand 16 chemokine (C-X-C motif) ligand 16 "Chemokine ligands|Scavenger receptors" "483|1253" 2001-09-21 2016-03-01 2023-01-20 58191 ENSG00000161921 OTTHUMG00000090761 uc002fyr.6 AF275260 NM_022059 CCDS11052 Q9H2A7 "11017100|11060282" MGI:1932682 RGD:1562928 605398 ligandId:855 HGNC:16642 "ENST00000293778.12|NM_001386809.1" @@ -5884,19 +5884,19 @@ HGNC:19232 CXCL17 C-X-C motif chemokine ligand 17 protein-coding gene gene with HGNC:6026 CXCR1 C-X-C motif chemokine receptor 1 protein-coding gene gene with protein product Approved 2q35 02q35 "CKR-1|CDw128a|CD181" "CMKAR1|IL8RA" "interleukin 8 receptor, alpha|chemokine (C-X-C motif) receptor 1" "CD molecules|Interleukin receptors|C-X-C motif chemokine receptors" "471|602|1094" 1992-11-09 2009-11-25 2016-03-14 2023-01-20 3577 ENSG00000163464 OTTHUMG00000133108 uc002vhc.4 U11870 NM_000634 CCDS2409 P25024 "1303245|1427896" MGI:2448715 RGD:2905 146929 objectId:68 CD181 HGNC:6026 "ENST00000295683.3|NM_000634.3" HGNC:6027 CXCR2 C-X-C motif chemokine receptor 2 protein-coding gene gene with protein product Approved 2q35 02q35 "CMKAR2|CD182" IL8RB "interleukin 8 receptor, beta|chemokine (C-X-C motif) receptor 2" "CD molecules|Interleukin receptors|C-X-C motif chemokine receptors" "471|602|1094" 1991-08-19 2009-11-25 2016-03-14 2023-01-20 3579 ENSG00000180871 OTTHUMG00000133107 uc002vha.3 U11869 NM_001557 CCDS2408 P25025 1427896 MGI:105303 RGD:2906 146928 431609 objectId:69 CD182 HGNC:6027 "ENST00000318507.7|NM_001557.4" HGNC:6027 HGNC:6028 CXCR2P1 C-X-C motif chemokine receptor 2 pseudogene 1 pseudogene pseudogene Approved 2q35 02q35 "IL8RBP|CXCR2P" "interleukin 8 receptor, beta pseudogene|chemokine (C-X-C motif) receptor 2 pseudogene|chemokine (C-X-C motif) receptor 2 pseudogene 1" 1992-11-27 2010-04-14 2016-03-14 2016-03-14 3580 ENSG00000229754 OTTHUMG00000155244 M98335 NR_002712 "1427896|1303245" PGOHUM00000240523 HGNC:6028 -HGNC:4540 CXCR3 C-X-C motif chemokine receptor 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "CKR-L2|CMKAR3|IP10-R|MigR|CD183" GPR9 "G protein-coupled receptor 9|chemokine (C-X-C motif) receptor 3" "CD molecules|C-X-C motif chemokine receptors" "471|1094" 1994-11-01 2002-08-23 2016-03-14 2023-01-20 2833 ENSG00000186810 OTTHUMG00000033326 uc004eaf.3 U32674 NM_001142797 "CCDS48135|CCDS14416" P49682 "8666380|9064356" MGI:1277207 RGD:621528 300574 objectId:70 CD183 HGNC:4540 "ENST00000373693.4|NM_001504.2" -HGNC:2561 CXCR4 C-X-C motif chemokine receptor 4 protein-coding gene gene with protein product Approved 2q22.1 02q22.1 "LESTR|NPY3R|HM89|NPYY3R|D2S201E|fusin|HSY3RR|NPYR|CD184" "chemokine (C-X-C motif), receptor 4 (fusin)|chemokine (C-X-C motif) receptor 4" "CD molecules|C-X-C motif chemokine receptors" "471|1094" 1998-09-17 2016-03-14 2023-01-20 7852 ENSG00000121966 OTTHUMG00000153583 uc002tuy.3 AF005058 NM_001008540 "CCDS33295|CCDS92871|CCDS46420" P61073 "9599023|9379028" MGI:109563 RGD:620465 "CXCR4base: Mutation registry for WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis)|http://structure.bmc.lu.se/idbase/CXCR4base/|LRG_51|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_51.xml" CXCR4 162643 120914 objectId:71 CD184 HGNC:2561 "ENST00000241393.4|NM_003467.3" HGNC:2561 +HGNC:4540 CXCR3 C-X-C motif chemokine receptor 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "CKR-L2|CMKAR3|IP10-R|MigR|CD183" GPR9 "G protein-coupled receptor 9|chemokine (C-X-C motif) receptor 3" "CD molecules|C-X-C motif chemokine receptors" "471|1094" 1994-11-01 2002-08-23 2016-03-14 2023-01-20 2833 ENSG00000186810 OTTHUMG00000033326 uc004eaf.3 U32674 NM_001142797 "CCDS14416|CCDS48135" P49682 "8666380|9064356" MGI:1277207 RGD:621528 300574 objectId:70 CD183 HGNC:4540 "ENST00000373693.4|NM_001504.2" +HGNC:2561 CXCR4 C-X-C motif chemokine receptor 4 protein-coding gene gene with protein product Approved 2q22.1 02q22.1 "LESTR|NPY3R|HM89|NPYY3R|D2S201E|fusin|HSY3RR|NPYR|CD184" "chemokine (C-X-C motif), receptor 4 (fusin)|chemokine (C-X-C motif) receptor 4" "CD molecules|C-X-C motif chemokine receptors" "471|1094" 1998-09-17 2016-03-14 2023-01-20 7852 ENSG00000121966 OTTHUMG00000153583 uc002tuy.3 AF005058 NM_001008540 "CCDS46420|CCDS92871|CCDS33295" P61073 "9599023|9379028" MGI:109563 RGD:620465 "CXCR4base: Mutation registry for WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis)|http://structure.bmc.lu.se/idbase/CXCR4base/|LRG_51|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_51.xml" CXCR4 162643 120914 objectId:71 CD184 HGNC:2561 "ENST00000241393.4|NM_003467.3" HGNC:2561 HGNC:1060 CXCR5 C-X-C motif chemokine receptor 5 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "MDR15|CD185" BLR1 "Burkitt lymphoma receptor 1, GTP-binding protein|Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)|chemokine (C-X-C motif) receptor 5" "CD molecules|C-X-C motif chemokine receptors" "471|1094" 1993-06-29 2008-01-22 2016-03-14 2023-01-20 643 ENSG00000160683 OTTHUMG00000166345 uc001pue.5 X68829 NM_001716 CCDS8402 P32302 1425907 MGI:103567 RGD:62010 601613 objectId:72 CD185 HGNC:1060 "ENST00000292174.5|NM_001716.5" HGNC:16647 CXCR6 C-X-C motif chemokine receptor 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "TYMSTR|STRL33|BONZO|CD186" chemokine (C-X-C motif) receptor 6 "CD molecules|C-X-C motif chemokine receptors" "471|1094" 2002-08-23 2016-03-14 2023-01-20 10663 ENSG00000172215 OTTHUMG00000133448 uc062izf.1 AF007545 NM_001386435 CCDS2735 O00574 "9166430|9230441" MGI:1934582 RGD:1642118 605163 objectId:73 CD186 HGNC:16647 "ENST00000304552.5|NM_006564.2" -HGNC:28589 CXorf38 chromosome X open reading frame 38 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 MGC39350 2004-09-02 2023-01-20 159013 ENSG00000185753 OTTHUMG00000024104 uc004dew.4 AL832829 NM_144970 "CCDS83467|CCDS14253" Q8TB03 "23768067|36330220" MGI:1916405 RGD:1565685 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf38 HGNC:28589 "ENST00000327877.10|NM_144970.3" +HGNC:28589 CXorf38 chromosome X open reading frame 38 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 MGC39350 2004-09-02 2023-01-20 159013 ENSG00000185753 OTTHUMG00000024104 uc004dew.4 AL832829 NM_144970 "CCDS14253|CCDS83467" Q8TB03 "23768067|36330220" MGI:1916405 RGD:1565685 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf38 HGNC:28589 "ENST00000327877.10|NM_144970.3" HGNC:30891 CXorf49 chromosome X open reading frame 49 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2008-01-24 2023-01-20 100130361 ENSG00000215115 OTTHUMG00000022702 uc011mpy.3 BE731937 NM_001145140 CCDS75991 A8MYA2 26078803 MGI:2685988 RGD:2320498 HGNC:30891 "ENST00000535490.3|NM_001145140.2" HGNC:34229 CXorf49B chromosome X open reading frame 49B protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2008-05-27 2023-01-20 100132994 ENSG00000215113 OTTHUMG00000021804 uc011mpz.3 BE731937 NM_001145139 CCDS75992 A8MYA2 MGI:2685988 HGNC:34229 "ENST00000542739.3|NM_001145139.2" HGNC:30533 CXorf51A chromosome X open reading frame 51A protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 CXorf51 chromosome X open reading frame 51 2008-01-24 2011-09-08 2011-09-08 2023-01-20 100129239 ENSG00000224440 OTTHUMG00000022600 uc065blc.1 AA723770 NM_001144064 CCDS83498 A0A1B0GTR3 34415548 HGNC:30533 "ENST00000458472.2|NM_001144064.3" -HGNC:42787 CXorf51B chromosome X open reading frame 51B protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 2011-09-08 2023-01-20 100133053 ENSG00000235699 OTTHUMG00000022599 uc065blb.1 NM_001244892 CCDS83497 P0DPH9 34415548 RGD:7626838 HGNC:42787 "ENST00000438525.3|NM_001244892.2" +HGNC:42787 CXorf51B chromosome X open reading frame 51B protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 2011-09-08 2023-01-20 100133053 ENSG00000235699 OTTHUMG00000022599 uc065blb.1 NM_001244892 CCDS83497 P0DPH9 34415548 HGNC:42787 "ENST00000438525.3|NM_001244892.2" HGNC:26356 CXorf58 chromosome X open reading frame 58 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 FLJ25444 2006-07-11 2023-01-20 254158 ENSG00000165182 OTTHUMG00000021258 uc004daz.2 AK058173 NM_152761 CCDS14209 Q96LI9 "27809547|34318869" MGI:1921682 RGD:1590267 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf58 HGNC:26356 "ENST00000379211.8|NM_152761.3" HGNC:33713 CXorf65 chromosome X open reading frame 65 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2009-03-06 2023-01-20 158830 ENSG00000204165 OTTHUMG00000021785 uc011mpo.3 BC144434 NM_001025265 CCDS35324 A6NEN9 33193409 MGI:2685460 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf65 HGNC:33713 "ENST00000374251.6|NM_001025265.3" HGNC:33743 CXorf66 chromosome X open reading frame 66 protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 "RP11-35F15.2|SGPX" secreted glycoprotein, X-linked 2009-03-20 2023-01-20 347487 ENSG00000203933 OTTHUMG00000022539 uc004fbb.4 NM_001013403 CCDS35411 Q5JRM2 24709545 MGI:3779666 RGD:1584124 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf66 HGNC:33743 "ENST00000370540.2|NM_001013403.3" -HGNC:24343 CXXC1 CXXC finger protein 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "HsT2645|PCCX1|hCGBP|PHF18|CGBP|SPP1|CFP1|ZCGPC1" "CpG binding protein|DNA-binding protein with PHD finger and CXXC domain|zinc finger, CpG binding-type containing 1" CXXC finger 1 (PHD domain) "PHD finger proteins|Zinc fingers CXXC-type" "88|136" 2004-02-18 2014-02-20 2023-01-20 30827 ENSG00000154832 OTTHUMG00000132670 uc002leq.5 BC014940 NM_014593 "CCDS45866|CCDS11945" Q9P0U4 "10799292|10688657" MGI:1921572 RGD:1310755 609150 HGNC:24343 "ENST00000285106.11|NM_014593.4" +HGNC:24343 CXXC1 CXXC finger protein 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "HsT2645|PCCX1|hCGBP|PHF18|CGBP|SPP1|CFP1|ZCGPC1" "CpG binding protein|DNA-binding protein with PHD finger and CXXC domain|zinc finger, CpG binding-type containing 1" CXXC finger 1 (PHD domain) "PHD finger proteins|Zinc fingers CXXC-type" "88|136" 2004-02-18 2014-02-20 2023-01-20 30827 ENSG00000154832 OTTHUMG00000132670 uc002leq.5 BC014940 NM_014593 "CCDS11945|CCDS45866" Q9P0U4 "10799292|10688657" MGI:1921572 RGD:1310755 609150 HGNC:24343 "ENST00000285106.11|NM_014593.4" HGNC:27864 CXXC1P1 CXXC finger protein 1 pseudogene 1 pseudogene pseudogene Approved Xp11.23 Xp11.23 FLJ36789 "CXorf25|NCRNA00236" "chromosome X open reading frame 25|non-protein coding RNA 236|CXXC finger 1 pseudogene 1" 2004-06-17 2010-07-02 2011-12-01 2020-04-20 392459 ENSG00000187893 OTTHUMG00000021450 AK094108 NR_033924 14702039 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf25 PGOHUM00000241737 HGNC:27864 HGNC:24593 CXXC4 CXXC finger protein 4 protein-coding gene gene with protein product Approved 4q24 04q24 IDAX Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex) Zinc fingers CXXC-type 136 2004-02-18 2011-12-01 2023-01-20 80319 ENSG00000168772 OTTHUMG00000131121 uc003hxf.3 NM_025212 CCDS3665 Q9H2H0 11113207 MGI:2442112 RGD:69228 611645 HGNC:24593 "ENST00000394767.3|NM_025212.4" HGNC:41054 CXXC4-AS1 CXXC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Antisense RNAs 1987 2017-01-10 2017-01-10 101929468 ENSG00000245384 OTTHUMG00000160977 NR_125926 HGNC:41054 @@ -5912,12 +5912,12 @@ HGNC:26516 CYB5D1 cytochrome b5 domain containing 1 protein-coding gene gene wit HGNC:28471 CYB5D2 cytochrome b5 domain containing 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 MGC32124 neuferricin Membrane associated progesterone receptor family 1282 2006-01-12 2023-01-20 124936 ENSG00000167740 OTTHUMG00000177726 uc002fxm.5 AK172844 NM_144611 "CCDS58501|CCDS11044" Q8WUJ1 19968755 MGI:2684848 RGD:1359124 HGNC:28471 "ENST00000301391.8|NM_144611.4" HGNC:13397 CYB5R1 cytochrome b5 reductase 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 humb5R2 NQO3A2 NAD(P)H:quinone oxidoreductase type 3, polypeptide A2 2004-06-08 2005-07-13 2023-01-20 51706 ENSG00000159348 OTTHUMG00000041387 uc001gyt.3 AF169481 NM_016243 CCDS1431 Q9UHQ9 "12975309|10611283" MGI:1919267 RGD:1306084 608341 1.6.2.2 HGNC:13397 "ENST00000367249.9|NM_016243.3" HGNC:24376 CYB5R2 cytochrome b5 reductase 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 2005-07-13 2023-03-15 51700 ENSG00000166394 OTTHUMG00000165665 uc009yfk.4 AF169802 NM_016229 CCDS7780 Q6BCY4 10611283 MGI:2444415 RGD:1308421 608342 1.6.2.2 HGNC:24376 "ENST00000299498.11|NM_016229.5" -HGNC:2873 CYB5R3 cytochrome b5 reductase 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 B5R NADH-cytochrome b5 reductase 3 DIA1 diaphorase (NADH) (cytochrome b-5 reductase) 2001-06-22 2005-07-13 2023-01-20 1727 ENSG00000100243 OTTHUMG00000150745 uc003bcz.4 M16461 NM_000398 "CCDS54535|CCDS33658|CCDS14040" P00387 "2479590|3268037|31898843" MGI:94893 RGD:2502 613213 120932 1.6.2.2 HGNC:2873 "ENST00000352397.10|NM_000398.7" HGNC:2873 +HGNC:2873 CYB5R3 cytochrome b5 reductase 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 B5R NADH-cytochrome b5 reductase 3 DIA1 diaphorase (NADH) (cytochrome b-5 reductase) 2001-06-22 2005-07-13 2023-01-20 1727 ENSG00000100243 OTTHUMG00000150745 uc003bcz.4 M16461 NM_000398 "CCDS54535|CCDS14040|CCDS33658" P00387 "2479590|3268037|31898843" MGI:94893 RGD:2502 613213 120932 1.6.2.2 HGNC:2873 "ENST00000352397.10|NM_000398.7" HGNC:2873 HGNC:20147 CYB5R4 cytochrome b5 reductase 4 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 "b5+b5R|dJ676J13.1" NCB5OR NADPH cytochrome B5 oxidoreductase 2003-08-27 2005-07-13 2023-01-20 51167 ENSG00000065615 OTTHUMG00000015118 uc003pkf.4 AF169803 NM_016230 CCDS5000 Q7L1T6 10611283 MGI:2386848 RGD:621834 608343 1.6.2.2 HGNC:20147 "ENST00000369681.10|NM_016230.4" HGNC:32220 CYB5RL cytochrome b5 reductase like protein-coding gene gene with protein product Approved 1p32.3 01p32.3 LOC606495 cytochrome b5 reductase-like 2008-12-03 2016-01-19 2023-01-20 606495 ENSG00000215883 OTTHUMG00000008082 uc057gtt.1 NM_001031672 "CCDS44151|CCDS85978" Q6IPT4 12477932 MGI:1919657 RGD:1597451 HGNC:32220 "ENST00000534324.6|NM_001031672.4" -HGNC:2571 CYB561 cytochrome b561 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "FRRS2|CYB561A1" "ferric-chelate reductase 2|cytochrome b561 family, member A1" Cytochrome b561 497 1993-10-14 2013-03-14 2023-01-20 1534 ENSG00000008283 OTTHUMG00000179116 uc002jat.4 NM_001915 "CCDS82184|CCDS11636" P49447 "7959749|23249217" MGI:103253 RGD:1310987 600019 HGNC:2571 "ENST00000360793.8|NM_001915.4" HGNC:2571 -HGNC:23014 CYB561A3 cytochrome b561 family member A3 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 CYBASC3 "cytochrome b, ascorbate dependent 3|cytochrome b561 family, member A3" Cytochrome b561 497 2003-10-06 2013-03-14 2015-11-18 2023-01-20 220002 ENSG00000162144 OTTHUMG00000157187 uc001nrg.4 AK024953 NM_153611 "CCDS73296|CCDS8004|CCDS53639" Q8NBI2 23249217 MGI:2686925 RGD:1304670 618757 HGNC:23014 "ENST00000294072.9|NM_153611.6" -HGNC:26804 CYB561D1 cytochrome b561 family member D1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ39035|FLJ44753" "cytochrome b-561 domain containing 1|cytochrome b561 family, member D1" Cytochrome b561 497 2004-04-27 2015-11-18 2023-01-20 284613 ENSG00000174151 OTTHUMG00000011051 uc010ovn.3 AK096354 NM_182580 "CCDS44189|CCDS800|CCDS44191|CCDS44188|CCDS44190" Q8N8Q1 23249217 MGI:1919273 RGD:1310829 HGNC:26804 "ENST00000420578.7|NM_182580.3" +HGNC:2571 CYB561 cytochrome b561 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "FRRS2|CYB561A1" "ferric-chelate reductase 2|cytochrome b561 family, member A1" Cytochrome b561 497 1993-10-14 2013-03-14 2023-01-20 1534 ENSG00000008283 OTTHUMG00000179116 uc002jat.4 NM_001915 "CCDS11636|CCDS82184" P49447 "7959749|23249217" MGI:103253 RGD:1310987 600019 HGNC:2571 "ENST00000360793.8|NM_001915.4" HGNC:2571 +HGNC:23014 CYB561A3 cytochrome b561 family member A3 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 CYBASC3 "cytochrome b, ascorbate dependent 3|cytochrome b561 family, member A3" Cytochrome b561 497 2003-10-06 2013-03-14 2015-11-18 2023-01-20 220002 ENSG00000162144 OTTHUMG00000157187 uc001nrg.4 AK024953 NM_153611 "CCDS53639|CCDS73296|CCDS8004" Q8NBI2 23249217 MGI:2686925 RGD:1304670 618757 HGNC:23014 "ENST00000294072.9|NM_153611.6" +HGNC:26804 CYB561D1 cytochrome b561 family member D1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ39035|FLJ44753" "cytochrome b-561 domain containing 1|cytochrome b561 family, member D1" Cytochrome b561 497 2004-04-27 2015-11-18 2023-01-20 284613 ENSG00000174151 OTTHUMG00000011051 uc010ovn.3 AK096354 NM_182580 "CCDS44188|CCDS44189|CCDS800|CCDS44190|CCDS44191" Q8N8Q1 23249217 MGI:1919273 RGD:1310829 HGNC:26804 "ENST00000420578.7|NM_182580.3" HGNC:30253 CYB561D2 cytochrome b561 family member D2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "101F6|TSP10" putative tumor suppressor 101F6 "cytochrome b-561 domain containing 2|cytochrome b561 family, member D2" Cytochrome b561 497 2004-04-27 2015-11-18 2023-01-20 11068 ENSG00000114395 OTTHUMG00000156813 uc003dam.4 AF040704 NM_007022 CCDS2827 O14569 "9122200|11085536|23249217" MGI:1929280 RGD:1359644 607068 HGNC:30253 "ENST00000425346.6|NM_001291284.2" HGNC:2577 CYBA cytochrome b-245 alpha chain protein-coding gene gene with protein product Approved 16q24.2 16q24.2 p22-PHOX flavocytochrome b-558 alpha polypeptide cytochrome b-245, alpha polypeptide 1990-01-15 2016-03-17 2023-01-20 1535 ENSG00000051523 OTTHUMG00000173320 uc002flb.5 NM_000101 CCDS32504 P13498 2243141 MGI:1316658 RGD:620573 "CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox|http://structure.bmc.lu.se/idbase/CYBAbase/|LRG_52|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_52.xml" 608508 138719 HGNC:2577 "ENST00000261623.8|NM_000101.4" HGNC:2577 HGNC:2578 CYBB cytochrome b-245 beta chain protein-coding gene gene with protein product Approved Xp21.1-p11.4 Xp21.1-p11.4 "GP91-PHOX|NOX2" NADPH oxidase 2 CGD "chronic granulomatous disease|cytochrome b-245, beta polypeptide" 1986-01-01 2016-05-16 2023-01-20 1536 ENSG00000165168 OTTHUMG00000033175 uc004ddr.3 X04011 NM_000397 CCDS14242 P04839 MGI:88574 RGD:620574 "CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase)|http://structure.bmc.lu.se/idbase/CYBBbase/|LRG_53|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_53.xml" 300481 120935 objectId:3002 HGNC:2578 "ENST00000378588.5|NM_000397.4" HGNC:2578 @@ -5972,13 +5972,14 @@ HGNC:24404 CYCSP53 CYCS pseudogene 53 pseudogene pseudogene Approved 1q24.3 01q2 HGNC:21252 CYCSP55 CYCS pseudogene 55 pseudogene pseudogene Approved 6p21.31 06p21.31 "bA513I15.3|HCP15" CYCSL1 "cytochrome c, somatic-like 1|cytochrome c, somatic-like 1 (pseudogene)|cytochrome c, somatic pseudogene 55" 2003-11-26 2010-10-12 2019-01-21 2019-01-21 157317 ENSG00000214810 OTTHUMG00000014540 NG_007352 12909341 PGOHUM00000243598 HGNC:21252 HGNC:56573 CYCSP56 CYCS pseudogene 56 pseudogene pseudogene Approved 3q26.2 03q26.2 2022-11-02 2022-11-02 107986039 ENSG00000242036 PGOHUM00000299263 HGNC:24424 CYCTP cytochrome c, testis, pseudogene pseudogene pseudogene Approved 2q31.2 02q31.2 HCP9 2010-03-12 2020-08-14 360163 ENSG00000249909 OTTHUMG00000154943 NG_002960 "12909341|20210993" MGI:88579 RGD:2452 HGNC:24424 -HGNC:13759 CYFIP1 cytoplasmic FMR1 interacting protein 1 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "KIAA0068|P140SRA-1|SHYC" "selective hybridizing clone|cytoplasmic FMRP interacting protein 1" SCAR/WAVE complex 1793 2002-05-23 2023-01-20 23191 ENSG00000273749 OTTHUMG00000129100 uc001yus.5 D38549 NM_014608 "CCDS73696|CCDS73695" Q7L576 11438699 MGI:1338801 RGD:1310332 606322 470156 HGNC:13759 "ENST00000617928.5|NM_014608.6" -HGNC:13760 CYFIP2 cytoplasmic FMR1 interacting protein 2 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 PIR121 p53 inducible protein SCAR/WAVE complex 1793 2002-05-23 2023-01-20 26999 ENSG00000055163 OTTHUMG00000163484 uc032vpr.2 AF160973 NM_001037332 "CCDS78078|CCDS78077|CCDS75364" Q96F07 11438699 MGI:1924134 RGD:1305048 606323 HGNC:13760 "ENST00000620254.5|NM_001037333.3" HGNC:13760 +HGNC:13759 CYFIP1 cytoplasmic FMR1 interacting protein 1 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "KIAA0068|P140SRA-1|SHYC" "selective hybridizing clone|cytoplasmic FMRP interacting protein 1" SCAR/WAVE complex 1793 2002-05-23 2023-01-20 23191 ENSG00000273749 OTTHUMG00000129100 uc001yus.5 D38549 NM_014608 "CCDS73695|CCDS73696" Q7L576 11438699 MGI:1338801 RGD:1310332 606322 470156 HGNC:13759 "ENST00000617928.5|NM_014608.6" +HGNC:13760 CYFIP2 cytoplasmic FMR1 interacting protein 2 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 PIR121 p53 inducible protein SCAR/WAVE complex 1793 2002-05-23 2023-01-20 26999 ENSG00000055163 OTTHUMG00000163484 uc032vpr.2 AF160973 NM_001037332 "CCDS78077|CCDS75364|CCDS78078" Q96F07 11438699 MGI:1924134 RGD:1305048 606323 HGNC:13760 "ENST00000620254.5|NM_001037333.3" HGNC:13760 HGNC:16505 CYGB cytoglobin protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HGB|STAP" "stellate cell activation-associated protein|histoglobin" 2001-09-21 2023-01-20 114757 ENSG00000161544 OTTHUMG00000180289 uc002jru.3 AJ315162 NM_134268 CCDS11746 Q8WWM9 11919282 MGI:2149481 RGD:69415 608759 HGNC:16505 "ENST00000293230.10|NM_134268.5" HGNC:2582 CYLC1 cylicin 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 cylicin, basic protein of sperm head cytoskeleton 1 1998-03-20 2016-02-22 2023-01-20 1538 ENSG00000183035 OTTHUMG00000021922 uc004eei.3 Z22780 NM_021118 "CCDS35341|CCDS75998" P35663 "7737358|8354692" MGI:1914657 RGD:2323810 300768 HGNC:2582 "ENST00000329312.5|NM_021118.3" HGNC:2583 CYLC2 cylicin 2 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 cylicin, basic protein of sperm head cytoskeleton 2 1998-03-20 2016-03-15 2023-01-20 1539 ENSG00000155833 OTTHUMG00000020396 uc004bbs.2 Z46788 NM_001340 CCDS35085 Q14093 7737358 MGI:1922164 RGD:1562799 604035 HGNC:2583 "ENST00000374798.8|NM_001340.5" HGNC:2583 -HGNC:2584 CYLD CYLD lysine 63 deubiquitinase protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "KIAA0849|USPL2" ubiquitin specific peptidase like 2 CYLD1 cylindromatosis (turban tumor syndrome) "Ubiquitin specific peptidases|MicroRNA protein coding host genes" "366|1691" 1996-12-17 2016-02-17 2023-01-20 1540 ENSG00000083799 OTTHUMG00000173404 uc002egq.2 AB020656 NM_001042355 "CCDS45482|CCDS42164" Q9NQC7 7493027 MGI:1921506 RGD:1308346 LRG_491|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_491.xml CYLD 605018 120940 C67.001 HGNC:2584 "ENST00000427738.8|NM_001378743.1" HGNC:2584 +HGNC:2584 CYLD CYLD lysine 63 deubiquitinase protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "KIAA0849|USPL2" ubiquitin specific peptidase like 2 CYLD1 cylindromatosis (turban tumor syndrome) "Ubiquitin specific peptidases|MicroRNA protein coding host genes" "366|1691" 1996-12-17 2016-02-17 2023-01-20 1540 ENSG00000083799 OTTHUMG00000173404 uc002egq.2 AB020656 NM_001042355 "CCDS42164|CCDS45482" Q9NQC7 7493027 MGI:1921506 RGD:1308346 LRG_491|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_491.xml CYLD 605018 120940 C67.001 HGNC:2584 "ENST00000427738.8|NM_001378743.1" HGNC:2584 HGNC:55352 CYLD-AS1 CYLD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Antisense RNAs 1987 2020-11-05 2020-11-05 102724907 ENSG00000261644 NR_184273 +HGNC:56848 CYLD-AS2 CYLD antisense RNA 2 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Antisense RNAs 1987 2023-06-07 2023-06-07 105371251 ENSG00000260616 XR_933542 HGNC:2588 CYMP chymosin, pseudogene pseudogene pseudogene Approved 1p13.3 01p13.3 rennin pseudogene Peptidase family A1 1928 1991-07-16 2019-07-30 2020-08-13 643160 ENSG00000240194 OTTHUMG00000022784 NR_003599 2071156 118943 A01.P02 HGNC:2588 HGNC:52509 CYMP-AS1 CYMP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Antisense RNAs 1987 2016-11-08 2016-11-08 440602 ENSG00000235407 OTTHUMG00000022783 NR_108042 HGNC:52509 HGNC:2595 CYP1A1 cytochrome P450 family 1 subfamily A member 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "P450DX|P1-450|P450-C|CP11" CYP1 "cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1|cytochrome P450, family 1, subfamily A, polypeptide 1" Cytochrome P450 family 1 1000 1986-01-01 2015-12-09 2023-01-20 1543 ENSG00000140465 OTTHUMG00000142812 uc002ayq.5 BC023019 NM_000499 "CCDS81906|CCDS10268" P04798 15128046 MGI:88588 RGD:2458 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP1A1|LRG_1262|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1262.xml" 108330 470158 objectId:1318 1.14.14.1 HGNC:2595 "ENST00000379727.8|NM_001319217.2" @@ -5995,8 +5996,8 @@ HGNC:39975 CYP2AB1P cytochrome P450 family 2 subfamily AB member 1, pseudogene p HGNC:39976 CYP2AC1P cytochrome P450 family 2 subfamily AC member 1, pseudogene pseudogene pseudogene Approved 6p12.3 06p12.3 cytochrome P450, family 2, subfamily AC, polypeptide 1, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 106478960 ENSG00000216998 OTTHUMG00000014821 NG_045223 HGNC:39976 HGNC:2615 CYP2B6 cytochrome P450 family 2 subfamily B member 6 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "CPB6|CYPIIB6" CYP2B "cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6|cytochrome P450, family 2, subfamily B|cytochrome P450, subfamily IIB (phenobarbital-inducible)|cytochrome P450, family 2, subfamily B, polypeptide 6" Cytochrome P450 family 2 1001 1995-12-13 2015-12-09 2023-01-20 1555 ENSG00000197408 OTTHUMG00000182714 uc002opr.2 AF182277 NM_000767 CCDS12570 P20813 "7668294|15128046" "MGI:88598|MGI:88599|MGI:88600|MGI:107303|MGI:3646735" RGD:628627 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2B6|LRG_1267|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1267.xml" 123930 241987 objectId:1324 HGNC:2615 "ENST00000324071.10|NM_000767.5" HGNC:2616 CYP2B7P cytochrome P450 family 2 subfamily B member 7, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 CYP2B CYP2B7P1 "cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1|cytochrome P450, family 2, subfamily B, polypeptide 7, pseudogene" Cytochrome P450 family 2 1001 1995-12-13 2013-11-15 2015-12-09 2015-12-09 1556 ENSG00000256612 OTTHUMG00000182706 BC041174 NR_001278 "7668294|15128046" PGOHUM00000234698 HGNC:2616 -HGNC:2622 CYP2C8 cytochrome P450 family 2 subfamily C member 8 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 CPC8 "cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8|cytochrome P450, family 2, subfamily C, polypeptide 8" Cytochrome P450 family 2 1001 1991-07-31 2015-12-09 2023-03-15 1558 ENSG00000138115 OTTHUMG00000018804 uc001kkb.4 M17397 NM_000770 "CCDS73166|CCDS55721|CCDS7438" P10632 7841444 "MGI:103238|MGI:1306806|MGI:1306818|MGI:1306819|MGI:1917138|MGI:1919553|MGI:2147497" RGD:1308166 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2C8 601129 470162 objectId:1325 HGNC:2622 "ENST00000371270.6|NM_000770.3" -HGNC:2623 CYP2C9 cytochrome P450 family 2 subfamily C member 9 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 P450IIC9 CYP2C10 "cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9|cytochrome P450, family 2, subfamily C, polypeptide 9" Cytochrome P450 family 2 1001 1992-04-06 2015-12-09 2023-01-20 1559 ENSG00000138109 OTTHUMG00000018805 uc001kka.5 M61855 NM_000771 CCDS7437 P11712 "2009263|7841444" "MGI:103238|MGI:1306806|MGI:1306818|MGI:1306819|MGI:1917138|MGI:1919553|MGI:2147497" RGD:2469 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2C9|LRG_1195|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1195.xml" 601130 241965 objectId:1326 HGNC:2623 "ENST00000260682.8|NM_000771.4" +HGNC:2622 CYP2C8 cytochrome P450 family 2 subfamily C member 8 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 CPC8 "cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8|cytochrome P450, family 2, subfamily C, polypeptide 8" Cytochrome P450 family 2 1001 1991-07-31 2015-12-09 2023-03-15 1558 ENSG00000138115 OTTHUMG00000018804 uc001kkb.4 M17397 NM_000770 "CCDS55721|CCDS7438|CCDS73166" P10632 7841444 "MGI:103238|MGI:1306806|MGI:1306818|MGI:1306819|MGI:1917138|MGI:1919553|MGI:2147497" RGD:1308166 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2C8 601129 470162 objectId:1325 HGNC:2622 "ENST00000371270.6|NM_000770.3" +HGNC:2623 CYP2C9 cytochrome P450 family 2 subfamily C member 9 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 P450IIC9 CYP2C10 "cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9|cytochrome P450, family 2, subfamily C, polypeptide 9" Cytochrome P450 family 2 1001 1992-04-06 2015-12-09 2023-01-20 1559 ENSG00000138109 OTTHUMG00000018805 uc001kka.5 M61855 NM_000771 CCDS7437 P11712 "2009263|7841444" "MGI:103238|MGI:1306806|MGI:1306818|MGI:1306819|MGI:1917138|MGI:1919553|MGI:2147497" "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2C9|LRG_1195|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1195.xml" 601130 241965 objectId:1326 HGNC:2623 "ENST00000260682.8|NM_000771.4" HGNC:2620 CYP2C18 cytochrome P450 family 2 subfamily C member 18 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "P450IIC17|CPCI|CYP2C" CYP2C17 "cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18|cytochrome P450, family 2, subfamily C, polypeptide 18" Cytochrome P450 family 2 1001 1992-02-12 2015-12-09 2023-01-20 1562 ENSG00000108242 OTTHUMG00000018796 uc001kjv.6 M61853 NM_000772 "CCDS7435|CCDS44460" P33260 "1896026|2009263" "MGI:103238|MGI:1306806|MGI:1306818|MGI:1306819|MGI:1919332|MGI:2147497" RGD:1563697 601131 objectId:1327 HGNC:2620 "ENST00000285979.11|NM_000772.3" HGNC:2621 CYP2C19 cytochrome P450 family 2 subfamily C member 19 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "P450IIC19|CPCJ" CYP2C "cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19|cytochrome P450, family 2, subfamily C, polypeptide 19" Cytochrome P450 family 2 1001 1992-04-06 2015-12-09 2023-01-20 1557 ENSG00000165841 OTTHUMG00000018799 uc010qnz.3 M61854 NM_000769 CCDS7436 P33261 "2009263|8530044" "MGI:103238|MGI:1306806|MGI:1306818|MGI:1306819|MGI:2147497" RGD:619934 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2C19|LRG_584|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_584.xml" 124020 241960 objectId:1328 HGNC:2621 "ENST00000371321.9|NM_000769.4" HGNC:39970 CYP2C23P cytochrome P450 family 2 subfamily C member 23, pseudogene pseudogene pseudogene Approved 10q24.2 10q24.2 CYP2C62P "cytochrome P450, family 2, subfamily C, polypeptide 62, pseudogene|cytochrome P450, family 2, subfamily C, polypeptide 23, pseudogene" Cytochrome P450 family 2 1001 2011-07-29 2013-07-30 2015-12-09 2017-10-18 107436076 ENSG00000283232 OTTHUMG00000191789 NG_055577 MGI:1888897 HGNC:39970 @@ -6008,7 +6009,7 @@ HGNC:39972 CYP2C61P cytochrome P450 family 2 subfamily C member 61, pseudogene p HGNC:42411 CYP2C63P cytochrome P450 family 2 subfamily C member 63, pseudogene pseudogene pseudogene Approved 21q21.3 21q21.3 CYP2C-se3[1] cytochrome P450, family 2, subfamily C, polypeptide 63, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 107063541 NG_046359 HGNC:42411 HGNC:39974 CYP2C64P cytochrome P450 family 2 subfamily C member 64, pseudogene pseudogene pseudogene Approved Xq28 Xq28 CYP2C-se4[1] cytochrome P450, family 2, subfamily C, polypeptide 64, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 112499600 NG_066028 PGOHUM00000242077 HGNC:39974 HGNC:42405 CYP2C115P cytochrome P450 family 2 subfamily C member 115, pseudogene pseudogene pseudogene Approved 10q23.33 10q23.33 CYP2C9-de1b cytochrome P450, family 2, subfamily C, polypeptide 115, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 100874513 NG_032714 PGOHUM00000238895 HGNC:42405 -HGNC:2625 CYP2D6 cytochrome P450 family 2 subfamily D member 6 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "CPD6|P450-DB1|CYP2D|P450C2D" "CYP2DL1|CYP2D7P2|CYP2D7BP|CYP2D8P2|CYP2D7AP" "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2|cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2|cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2|cytochrome P450, family 2, subfamily D, polypeptide 6" Cytochrome P450 family 2 1001 1992-04-07 2015-12-09 2023-01-20 1565 ENSG00000100197 OTTHUMG00000150918 uc003bce.4 M20403 NM_000106 "CCDS33657|CCDS46721" P10635 8449513 "MGI:88602|MGI:88603|MGI:88604|MGI:88606|MGI:1919004|MGI:1923529|MGI:1929474|MGI:2385022" RGD:620640 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2D6|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_303|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_303.xml" 124030 241953 objectId:1329 HGNC:2625 "ENST00000645361.2|NM_000106.6" +HGNC:2625 CYP2D6 cytochrome P450 family 2 subfamily D member 6 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "CPD6|P450-DB1|CYP2D|P450C2D" "CYP2DL1|CYP2D7P2|CYP2D7BP|CYP2D8P2|CYP2D7AP" "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2|cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2|cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2|cytochrome P450, family 2, subfamily D, polypeptide 6" Cytochrome P450 family 2 1001 1992-04-07 2015-12-09 2023-01-20 1565 ENSG00000100197 OTTHUMG00000150918 uc003bce.4 M20403 NM_000106 "CCDS46721|CCDS33657" P10635 8449513 "MGI:88602|MGI:88603|MGI:88604|MGI:88606|MGI:1919004|MGI:1923529|MGI:1929474|MGI:2385022" RGD:620640 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2D6|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_303|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_303.xml" 124030 241953 objectId:1329 HGNC:2625 "ENST00000645361.2|NM_000106.6" HGNC:2624 CYP2D7 cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "CYP2D|CYP2D@|CYP2D7P1|CYP2D7P" "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing) cluster|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1|cytochrome P450, family 2, subfamily D, polypeptide 7 (gene/pseudogene)" Cytochrome P450 family 2 1001 1986-01-01 2014-10-14 2015-12-09 2015-12-09 1564 ENSG00000205702 OTTHUMG00000030222 M33387 NR_002570 A0A087X1C5 17494644 "MGI:88602|MGI:88603|MGI:88604|MGI:88606|MGI:1919004|MGI:1923529|MGI:1929474|MGI:2385022" RGD:708427 HGNC:2624 HGNC:2628 CYP2D8P ccytochrome P450 family 2 subfamily D member 8, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 "CYP2DP1|CYP2D8P1" "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 8 pseudogene 1|cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 1|cytochrome P450, family 2, subfamily D, polypeptide 8, pseudogene" Cytochrome P450 family 2 1001 1992-04-07 2013-11-15 2015-12-09 2015-12-09 1568 ENSG00000226450 OTTHUMG00000150922 M33387 NG_000854 1766873 PGOHUM00000259709 HGNC:2628 HGNC:2631 CYP2E1 cytochrome P450 family 2 subfamily E member 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 CYP2E "cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1|cytochrome P450, family 2, subfamily E, polypeptide 1" Cytochrome P450 family 2 1001 1988-03-03 2002-09-13 2015-12-09 2023-01-20 1571 ENSG00000130649 OTTHUMG00000019322 uc057xaa.1 J02843 NM_000773 CCDS7686 P05181 MGI:88607 RGD:2475 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2E1 124040 objectId:1330 HGNC:2631 "ENST00000252945.8|NM_000773.4" @@ -6025,28 +6026,28 @@ HGNC:20582 CYP2U1 cytochrome P450 family 2 subfamily U member 1 protein-coding g HGNC:54817 CYP2U1-AS1 CYP2U1 and SGMS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q25 04q25 Antisense RNAs 1987 2020-01-17 2020-07-16 101929595 ENSG00000245293 NR_125929 32079618 HGNC:20243 CYP2W1 cytochrome P450 family 2 subfamily W member 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "FLJ20359|MGC34287" cytochrome P450, family 2, subfamily W, polypeptide 1 Cytochrome P450 family 2 1001 2004-07-05 2015-12-09 2023-01-20 54905 ENSG00000073067 OTTHUMG00000074071 uc003sjq.1 AK000366 NM_017781 CCDS5319 Q8TAV3 MGI:3616076 RGD:1305193 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2W1 615967 objectId:1336 HGNC:20243 "ENST00000308919.12|NM_017781.3" HGNC:2637 CYP3A4 cytochrome P450 family 3 subfamily A member 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 CYP3A3 "cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4|cytochrome P450, family 3, subfamily A, polypeptide 4" Cytochrome P450 family 3 1002 1990-02-24 2015-12-09 2023-01-20 1576 ENSG00000160868 OTTHUMG00000156651 uc064fwx.1 AF280107 NM_001202855 CCDS5674 P08684 "8269949|1391968" MGI:88610 RGD:708379 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP3A4 124010 423802 objectId:1337 1.1.1.161 HGNC:2637 "ENST00000651514.1|NM_017460.6" HGNC:2637 -HGNC:2638 CYP3A5 cytochrome P450 family 3 subfamily A member 5 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "PCN3|P450PCN3|CP35" "cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5|cytochrome P450, family 3, subfamily A, polypeptide 5" Cytochrome P450 family 3 1002 1990-02-24 2015-12-09 2023-01-20 1577 ENSG00000106258 OTTHUMG00000156724 uc003urq.4 L26985 NM_000777 "CCDS55134|CCDS5672" P20815 "MGI:88609|MGI:88610|MGI:106099|MGI:1858451|MGI:2449818|MGI:3714859" RGD:708392 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP3A5|LRG_1431|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1431.xml" 605325 241994 objectId:1338 HGNC:2638 "ENST00000222982.8|NM_000777.5" +HGNC:2638 CYP3A5 cytochrome P450 family 3 subfamily A member 5 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "PCN3|P450PCN3|CP35" "cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5|cytochrome P450, family 3, subfamily A, polypeptide 5" Cytochrome P450 family 3 1002 1990-02-24 2015-12-09 2023-01-20 1577 ENSG00000106258 OTTHUMG00000156724 uc003urq.4 L26985 NM_000777 "CCDS5672|CCDS55134" P20815 "MGI:88609|MGI:88610|MGI:106099|MGI:1858451|MGI:2449818|MGI:3714859" RGD:708392 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP3A5|LRG_1431|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1431.xml" 605325 241994 objectId:1338 HGNC:2638 "ENST00000222982.8|NM_000777.5" HGNC:2640 CYP3A7 cytochrome P450 family 3 subfamily A member 7 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CP37|P450-HFLA" "cytochrome P450, subfamily IIIA, polypeptide 7|cytochrome P450, family 3, subfamily A, polypeptide 7" Cytochrome P450 family 3 1002 1992-09-14 2015-12-09 2023-01-20 1551 ENSG00000160870 OTTHUMG00000156726 uc003uru.4 AF315325 NM_000765 CCDS5673 P24462 2722762 "MGI:88610|MGI:1930638|MGI:3769707" PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP3A7 605340 objectId:1339 HGNC:2640 "ENST00000336374.4|NM_000765.5" HGNC:51504 CYP3A7-CYP3A51P CYP3A7-CYP3A51P readthrough other readthrough Approved 7q22.1 07q22.1 2015-01-19 2023-03-15 100861540 ENSG00000282301 OTTHUMG00000191417 NM_001256497 "MGI:88610|MGI:1930638|MGI:3769707" HGNC:51504 -HGNC:17450 CYP3A43 cytochrome P450 family 3 subfamily A member 43 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "cytochrome P450, subfamily IIIA, polypeptide 43|cytochrome P450, family 3, subfamily A, polypeptide 43" Cytochrome P450 family 3 1002 2002-07-05 2015-12-09 2023-01-20 64816 ENSG00000021461 OTTHUMG00000156498 uc003urx.3 AF319634 NM_001278921 "CCDS5676|CCDS5677|CCDS64723|CCDS5675" Q9HB55 "11160876|11266076" "MGI:1930638|MGI:3646373|MGI:3769707" RGD:628709 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP3A43 606534 objectId:1340 HGNC:17450 "ENST00000354829.7|NM_057095.3" +HGNC:17450 CYP3A43 cytochrome P450 family 3 subfamily A member 43 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "cytochrome P450, subfamily IIIA, polypeptide 43|cytochrome P450, family 3, subfamily A, polypeptide 43" Cytochrome P450 family 3 1002 2002-07-05 2015-12-09 2023-01-20 64816 ENSG00000021461 OTTHUMG00000156498 uc003urx.3 AF319634 NM_001278921 "CCDS5677|CCDS5675|CCDS64723|CCDS5676" Q9HB55 "11160876|11266076" "MGI:1930638|MGI:3646373|MGI:3769707" RGD:628709 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP3A43 606534 objectId:1340 HGNC:17450 "ENST00000354829.7|NM_057095.3" HGNC:42418 CYP3A51P cytochrome P450 family 3 subfamily A member 51, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 "CYP3A5-de13c|CYP3A5-de1b2b" CYP3A5P1 cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene Cytochrome P450 family 3 1002 2011-07-29 2015-12-09 2020-04-20 1578 ENSG00000282277 OTTHUMG00000191416 NG_000856 15937338 PGOHUM00000232935 HGNC:42418 HGNC:42412 CYP3A52P cytochrome P450 family 3 subfamily A member 52, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 CYP3A43-de4c6c cytochrome P450, family 3, subfamily A, polypeptide 52, pseudogene Cytochrome P450 family 3 1002 2011-07-29 2015-12-09 2015-12-09 106478983 ENSG00000260524 OTTHUMG00000172692 NG_045113 HGNC:42412 HGNC:42413 CYP3A54P cytochrome P450 family 3 subfamily A member 54, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 CYP3A-se1[2] cytochrome P450, family 3, subfamily A, polypeptide 54, pseudogene Cytochrome P450 family 3 1002 2011-07-29 2015-12-09 2015-12-09 106480749 ENSG00000261809 OTTHUMG00000172693 NG_043787 HGNC:42413 HGNC:42419 CYP3A137P cytochrome P450 family 3 subfamily A member 137, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 CYP3A43-de1b cytochrome P450, family 3, subfamily A, polypeptide 137, pseudogene Cytochrome P450 family 3 1002 2011-07-29 2015-12-09 2015-12-09 107063543 ENSG00000261511 OTTHUMG00000172706 NG_046361 HGNC:42419 -HGNC:2642 CYP4A11 cytochrome P450 family 4 subfamily A member 11 protein-coding gene gene with protein product Approved 1p33 01p33 CYP4AII CYP4A2 "cytochrome P450, subfamily IVA, polypeptide 11|cytochrome P450, family 4, subfamily A, polypeptide 11" Cytochrome P450 family 4 1003 1993-06-21 2015-12-09 2023-01-20 1579 ENSG00000187048 OTTHUMG00000008020 uc001cqp.5 L04751 NM_000778 "CCDS543|CCDS85973" Q02928 7679927 "MGI:88611|MGI:88612|MGI:1096550|MGI:3028580|MGI:3611747|MGI:3717143|MGI:3717145|MGI:3717148" PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4A11/ 601310 objectId:1341 HGNC:2642 "ENST00000310638.9|NM_000778.4" -HGNC:20575 CYP4A22 cytochrome P450 family 4 subfamily A member 22 protein-coding gene gene with protein product Approved 1p33 01p33 cytochrome P450, family 4, subfamily A, polypeptide 22 Cytochrome P450 family 4 1003 2004-07-05 2015-12-09 2023-01-20 284541 ENSG00000162365 OTTHUMG00000007845 uc001cqv.2 NM_001010969 "CCDS76160|CCDS30707" Q5TCH4 "MGI:88612|MGI:1096550|MGI:3611747|MGI:3717143|MGI:3717145" RGD:68945 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4A22 615341 objectId:1342 HGNC:20575 "ENST00000371891.8|NM_001010969.4" +HGNC:2642 CYP4A11 cytochrome P450 family 4 subfamily A member 11 protein-coding gene gene with protein product Approved 1p33 01p33 CYP4AII CYP4A2 "cytochrome P450, subfamily IVA, polypeptide 11|cytochrome P450, family 4, subfamily A, polypeptide 11" Cytochrome P450 family 4 1003 1993-06-21 2015-12-09 2023-01-20 1579 ENSG00000187048 OTTHUMG00000008020 uc001cqp.5 L04751 NM_000778 "CCDS85973|CCDS543" Q02928 7679927 "MGI:88611|MGI:88612|MGI:1096550|MGI:3028580|MGI:3611747|MGI:3717143|MGI:3717145|MGI:3717148" PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4A11/ 601310 objectId:1341 HGNC:2642 "ENST00000310638.9|NM_000778.4" +HGNC:20575 CYP4A22 cytochrome P450 family 4 subfamily A member 22 protein-coding gene gene with protein product Approved 1p33 01p33 cytochrome P450, family 4, subfamily A, polypeptide 22 Cytochrome P450 family 4 1003 2004-07-05 2015-12-09 2023-01-20 284541 ENSG00000162365 OTTHUMG00000007845 uc001cqv.2 NM_001010969 "CCDS30707|CCDS76160" Q5TCH4 "MGI:88612|MGI:1096550|MGI:3611747|MGI:3717143|MGI:3717145" RGD:68945 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4A22 615341 objectId:1342 HGNC:20575 "ENST00000371891.8|NM_001010969.4" HGNC:43715 CYP4A22-AS1 CYP4A22 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 ncRNA-a3 CYP4A22 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-02 2012-08-15 2014-10-22 104355148 ENSG00000225506 OTTHUMG00000007848 uc057ghd.1 BQ688560 20887892 cyp4a22-as1 CYP4A22-AS1 HGNC:39980 CYP4A26P cytochrome P450 family 4 subfamily A member 26, pseudogene pseudogene pseudogene Approved 1p33 01p33 CYP4A-se1[12] cytochrome P450, family 4, subfamily A, polypeptide 26, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2016-01-13 107080641 ENSG00000259832 OTTHUMG00000172700 NG_046399 HGNC:39980 HGNC:42414 CYP4A27P cytochrome P450 family 4 subfamily A member 27, pseudogene pseudogene pseudogene Approved 1p33 01p33 CYP4A-se3[12] cytochrome P450, family 4, subfamily A, polypeptide 27, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2016-01-13 100422288 ENSG00000261593 OTTHUMG00000172702 NG_026935 HGNC:42414 HGNC:42417 CYP4A43P cytochrome P450 family 4 subfamily A member 43, pseudogene pseudogene pseudogene Approved 1p33 01p33 CYP4A-se2[1] cytochrome P450, family 4, subfamily A, polypeptide 43, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 100874495 ENSG00000261196 OTTHUMG00000172701 NG_007966 HGNC:42417 HGNC:42416 CYP4A44P cytochrome P450 family 4 subfamily A member 44, pseudogene pseudogene pseudogene Approved 1p33 01p33 CYP4A-se4[2] cytochrome P450, family 4, subfamily A, polypeptide 44, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 106481791 ENSG00000261290 OTTHUMG00000172696 NG_043918 HGNC:42416 -HGNC:2644 CYP4B1 cytochrome P450 family 4 subfamily B member 1 protein-coding gene gene with protein product Approved 1p33 01p33 "cytochrome P450, subfamily IVB, polypeptide 1|cytochrome P450, family 4, subfamily B, polypeptide 1" Cytochrome P450 family 4 1003 1990-09-10 2015-12-09 2023-01-20 1580 ENSG00000142973 OTTHUMG00000007984 uc001cqm.5 BC017758 NM_000779 "CCDS81318|CCDS542|CCDS41328" P13584 MGI:103225 RGD:2480 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4B1 124075 objectId:1343 HGNC:2644 "ENST00000371923.9|NM_001099772.2" +HGNC:2644 CYP4B1 cytochrome P450 family 4 subfamily B member 1 protein-coding gene gene with protein product Approved 1p33 01p33 "cytochrome P450, subfamily IVB, polypeptide 1|cytochrome P450, family 4, subfamily B, polypeptide 1" Cytochrome P450 family 4 1003 1990-09-10 2015-12-09 2023-01-20 1580 ENSG00000142973 OTTHUMG00000007984 uc001cqm.5 BC017758 NM_000779 "CCDS41328|CCDS81318|CCDS542" P13584 MGI:103225 RGD:2480 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4B1 124075 objectId:1343 HGNC:2644 "ENST00000371923.9|NM_001099772.2" HGNC:2645 CYP4F2 cytochrome P450 family 4 subfamily F member 2 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "cytochrome P450, subfamily IVF, polypeptide 2|cytochrome P450, family 4, subfamily F, polypeptide 2" Cytochrome P450 family 4 1003 1998-10-07 2015-12-09 2023-01-20 8529 ENSG00000186115 OTTHUMG00000185995 uc002nbs.2 U02388 NM_001082 CCDS12336 P78329 "8424651|8026587" "MGI:1919304|MGI:1927669|MGI:2146921" PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4F2 604426 286575 objectId:1344 HGNC:2645 "ENST00000221700.11|NM_001082.5" -HGNC:2646 CYP4F3 cytochrome P450 family 4 subfamily F member 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 CYP4F LTB4H "cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)|cytochrome P450, family 4, subfamily F, polypeptide 3" Cytochrome P450 family 4 1003 1995-12-15 2015-12-09 2023-01-20 4051 ENSG00000186529 OTTHUMG00000182374 uc002nbj.4 AB002454 NM_000896 "CCDS12332|CCDS59362" Q08477 "8486631|9539102" "MGI:1919304|MGI:2158641" RGD:1305261 601270 objectId:1345 HGNC:2646 "ENST00000221307.13|NM_000896.3" +HGNC:2646 CYP4F3 cytochrome P450 family 4 subfamily F member 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 CYP4F LTB4H "cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)|cytochrome P450, family 4, subfamily F, polypeptide 3" Cytochrome P450 family 4 1003 1995-12-15 2015-12-09 2023-01-20 4051 ENSG00000186529 OTTHUMG00000182374 uc002nbj.4 AB002454 NM_000896 "CCDS59362|CCDS12332" Q08477 "8486631|9539102" "MGI:1919304|MGI:2158641" RGD:1305261 601270 objectId:1345 HGNC:2646 "ENST00000221307.13|NM_000896.3" HGNC:2648 CYP4F8 cytochrome P450 family 4 subfamily F member 8 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "cytochrome P450, subfamily IVF, polypeptide 8|cytochrome P450, family 4, subfamily F, polypeptide 8" Cytochrome P450 family 4 1003 1999-09-20 2015-12-09 2023-01-20 11283 ENSG00000186526 OTTHUMG00000182386 uc032hoh.2 AF133298 NM_007253 CCDS74303 P98187 10405341 "MGI:1927669|MGI:2146921" RGD:708365 611545 PGOHUM00000263459 objectId:1346 HGNC:2648 "ENST00000612078.5|NM_007253.4" HGNC:39940 CYP4F9P cytochrome P450 family 4 subfamily F member 9, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 cytochrome P450, family 4, subfamily F, polypeptide 9, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2020-04-20 105369296 ENSG00000267392 OTTHUMG00000182269 NG_056701 PGOHUM00000294900 HGNC:39940 HGNC:39943 CYP4F10P cytochrome P450 family 4 subfamily F member 10, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 cytochrome P450, family 4, subfamily F, polypeptide 10, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 646575 ENSG00000267241 OTTHUMG00000182388 NG_032152 PGOHUM00000234532 HGNC:39943 -HGNC:13265 CYP4F11 cytochrome P450 family 4 subfamily F member 11 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "cytochrome P450, subfamily IVF, polypeptide 11|cytochrome P450, family 4, subfamily F, polypeptide 11" Cytochrome P450 family 4 1003 2001-05-17 2015-12-09 2023-01-20 57834 ENSG00000171903 OTTHUMG00000182294 uc002nbu.3 AF236085 NM_021187 CCDS12337 Q9HBI6 "10964514|9068972" "MGI:1927669|MGI:2146921|MGI:3645508" 611517 objectId:1347 HGNC:13265 "ENST00000402119.9|NM_021187.4" +HGNC:13265 CYP4F11 cytochrome P450 family 4 subfamily F member 11 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "cytochrome P450, subfamily IVF, polypeptide 11|cytochrome P450, family 4, subfamily F, polypeptide 11" Cytochrome P450 family 4 1003 2001-05-17 2015-12-09 2023-01-20 57834 ENSG00000171903 OTTHUMG00000182294 uc002nbu.3 AF236085 NM_021187 CCDS12337 Q9HBI6 "10964514|9068972" "MGI:1927669|MGI:2146921|MGI:3645508" RGD:1559596 611517 objectId:1347 HGNC:13265 "ENST00000402119.9|NM_021187.4" HGNC:18857 CYP4F12 cytochrome P450 family 4 subfamily F member 12 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "cytochrome P450, subfamily IVF, polypeptide 12|cytochrome P450, family 4, subfamily F, polypeptide 12" Cytochrome P450 family 4 1003 2002-07-05 2015-12-09 2023-01-20 66002 ENSG00000186204 OTTHUMG00000164477 uc002nbl.4 AB035130 NM_023944 CCDS42517 Q9HCS2 11162607 MGI:1927669 RGD:70926 611485 objectId:1348 HGNC:18857 "ENST00000550308.6|NM_023944.4" HGNC:26820 CYP4F22 cytochrome P450 family 4 subfamily F member 22 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ39501 cytochrome P450, family 4, subfamily F, polypeptide 22 Cytochrome P450 family 4 1003 2007-05-18 2015-12-09 2023-01-20 126410 ENSG00000171954 OTTHUMG00000182451 uc002nbh.5 NM_173483 CCDS12331 Q6NT55 16436457 MGI:2445210 RGD:1308796 611495 160003 objectId:1349 HGNC:26820 "ENST00000269703.8|NM_173483.4" HGNC:26820 HGNC:39944 CYP4F23P cytochrome P450 family 4 subfamily F member 23, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 cytochrome P450, family 4, subfamily F, polypeptide 23, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 100422238 ENSG00000269516 OTTHUMG00000182453 NG_024224 PGOHUM00000234531 HGNC:39944 @@ -6076,16 +6077,16 @@ HGNC:2651 CYP7A1 cytochrome P450 family 7 subfamily A member 1 protein-coding ge HGNC:2652 CYP7B1 cytochrome P450 family 7 subfamily B member 1 protein-coding gene gene with protein product Approved 8q12.3 08q12.3 SPG5A "cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1|spastic paraplegia 5A (autosomal recessive)|cytochrome P450, family 7, subfamily B, polypeptide 1" Cytochrome P450 family 7 1005 1999-06-02 2015-12-09 2023-01-20 9420 ENSG00000172817 OTTHUMG00000164387 uc003xvj.3 AF029403 NM_001324112 CCDS6180 O75881 "9802883|18252231" MGI:104978 RGD:2483 603711 121005 objectId:1355 1.14.14.29 HGNC:2652 "ENST00000310193.4|NM_004820.5" HGNC:2652 HGNC:2653 CYP8B1 cytochrome P450 family 8 subfamily B member 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 CYP12 "cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1|cytochrome P450, family 8, subfamily B, polypeptide 1" Cytochrome P450 family 8 1006 1998-06-25 2015-12-09 2023-01-20 1582 ENSG00000180432 OTTHUMG00000133047 uc003cmh.4 AF090318 NM_004391 CCDS2707 Q9UNU6 10051404 MGI:1338044 RGD:71016 602172 objectId:1357 HGNC:2653 "ENST00000316161.6|NM_004391.3" HGNC:2590 CYP11A1 cytochrome P450 family 11 subfamily A member 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 P450SCC cholesterol monooxygenase (side-chain-cleaving) CYP11A "cytochrome P450, subfamily XIA (cholesterol side chain cleavage)|cytochrome P450, family 11, subfamily A, polypeptide 1" Cytochrome P450 family 11 1007 1986-01-01 2003-01-17 2015-12-09 2023-01-20 1583 ENSG00000140459 OTTHUMG00000150716 uc002axt.3 AK056794 NM_000781 "CCDS45303|CCDS32291" P05108 MGI:88582 RGD:69325 118485 120945 objectId:1358 1.14.15.6 HGNC:2590 "ENST00000268053.11|NM_000781.3" HGNC:2590 -HGNC:2591 CYP11B1 cytochrome P450 family 11 subfamily B member 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "P450C11|FHI|CPN1" steroid 11-beta-monooxygenase CYP11B "cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1|cytochrome P450, family 11, subfamily B, polypeptide 1" Cytochrome P450 family 11 1007 1986-01-01 2015-12-09 2023-01-20 1584 ENSG00000160882 OTTHUMG00000164637 uc003yxi.4 D16153 NM_000497 "CCDS6392|CCDS34953" P15538 1303253 "MGI:88583|MGI:88584" RGD:2454 610613 120949 objectId:1359 1.14.15.4 HGNC:2591 "ENST00000292427.10|NM_000497.4" HGNC:2591 +HGNC:2591 CYP11B1 cytochrome P450 family 11 subfamily B member 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "P450C11|FHI|CPN1" steroid 11-beta-monooxygenase CYP11B "cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1|cytochrome P450, family 11, subfamily B, polypeptide 1" Cytochrome P450 family 11 1007 1986-01-01 2015-12-09 2023-01-20 1584 ENSG00000160882 OTTHUMG00000164637 uc003yxi.4 D16153 NM_000497 "CCDS34953|CCDS6392" P15538 1303253 "MGI:88583|MGI:88584" RGD:2454 610613 120949 objectId:1359 1.14.15.4 HGNC:2591 "ENST00000292427.10|NM_000497.4" HGNC:2591 HGNC:2592 CYP11B2 cytochrome P450 family 11 subfamily B member 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "CYP11BL|CPN2|P-450C18|P450aldo|ALDOS" steroid 11-beta-monooxygenase CYP11B "cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2|cytochrome P450, family 11, subfamily B, polypeptide 2" Cytochrome P450 family 11 1007 1986-01-01 2015-12-09 2023-01-20 1585 ENSG00000179142 OTTHUMG00000160254 uc003yxk.1 X54741 NM_000498 CCDS6393 P19099 1303253 "MGI:88583|MGI:88584" RGD:727886 124080 120955 objectId:1360 1.14.15.4 HGNC:2592 "ENST00000323110.2|NM_000498.3" HGNC:2592 HGNC:2593 CYP17A1 cytochrome P450 family 17 subfamily A member 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "P450C17|CPT7|S17AH" Steroid 17-alpha-monooxygenase CYP17 "cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia|cytochrome P450, family 17, subfamily A, polypeptide 1" Cytochrome P450 family 17 1008 1986-01-01 2003-02-28 2015-12-09 2023-01-20 1586 ENSG00000148795 OTTHUMG00000018969 uc001kwg.3 M19489 NM_000102 CCDS7541 P05093 "1347802|9888582" MGI:88586 RGD:2456 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP17A1 609300 120963 objectId:1361 "1.14.14.19|1.14.14.32" HGNC:2593 "ENST00000369887.4|NM_000102.4" HGNC:2593 HGNC:31671 CYP17A1-AS1 CYP17A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.32 10q24.32 bA753C18.3 CYP17A1OS "cytochrome P450, family 17, subfamily A, polypeptide 1 opposite strand|CYP17A1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-09-02 2012-08-15 2020-04-20 102724307 OTTHUMG00000018970 uc057vrq.1 XR_428804 CYP17A1-AS1 HGNC:31671 HGNC:2594 CYP19A1 cytochrome P450 family 19 subfamily A member 1 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "ARO|P-450AROM|CPV1|ARO1|CYAR|aromatase" CYP19 "cytochrome P450, subfamily XIX (aromatization of androgens)|cytochrome P450, family 19, subfamily A, polypeptide 1" "Cytochrome P450 family 19|MicroRNA protein coding host genes" "1009|1691" 1986-01-01 2003-02-28 2015-12-09 2023-01-20 1588 ENSG00000137869 OTTHUMG00000131747 uc001zza.5 D14473 NM_000103 CCDS10139 P11511 8477708 MGI:88587 RGD:2457 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP19A1 107910 120969 objectId:1362 HGNC:2594 "ENST00000396402.6|NM_000103.4" HGNC:2594 HGNC:20576 CYP20A1 cytochrome P450 family 20 subfamily A member 1 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 CYP-M cytochrome P450, family 20, subfamily A, polypeptide 1 Cytochrome P450 family 20 1010 2003-03-20 2015-12-09 2023-01-20 57404 ENSG00000119004 OTTHUMG00000132854 uc002uzv.5 AK021770 NM_020674 "CCDS2357|CCDS92931" Q6UW02 MGI:1925201 RGD:735221 objectId:1363 HGNC:20576 "ENST00000356079.9|NM_177538.3" HGNC:2599 CYP21A1P cytochrome P450 family 21 subfamily A member 1, pseudogene pseudogene pseudogene Approved 6p21.33 06p21.33 P450c21A "CYP21P|CYP21A" "cytochrome P450, subfamily XXIA (steroid 21-hydroxylase), polypeptide 1 pseudogene|cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene" Cytochrome P450 family 21 1011 1986-01-01 2015-12-09 2015-12-09 1590 ENSG00000204338 OTTHUMG00000031026 M13935 NR_040090 "3487786|3038528" MGI:88591 RGD:2461 PGOHUM00000250207 HGNC:2599 -HGNC:2600 CYP21A2 cytochrome P450 family 21 subfamily A member 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "P450c21B|CA21H|CPS1|CAH1" Steroid 21-monooxygenase "CYP21|CYP21B" "cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2|cytochrome P450, family 21, subfamily A, polypeptide 2" Cytochrome P450 family 21 1011 1986-01-01 2015-12-09 2023-01-20 1589 ENSG00000231852 OTTHUMG00000031069 uc021zxa.2 X58906 NM_000500 "CCDS4735|CCDS47406" P08686 MGI:88591 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP21A2|LRG_829|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_829.xml" 613815 120981 objectId:1364 1.14.14.16 HGNC:2600 "ENST00000644719.2|NM_000500.9" HGNC:2600 -HGNC:2602 CYP24A1 cytochrome P450 family 24 subfamily A member 1 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "CP24|P450-CC24|lncBCAS1-4_1" CYP24 "cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)|cytochrome P450, family 24, subfamily A, polypeptide 1" Cytochrome P450 family 24 1012 1992-09-09 2003-02-28 2015-12-09 2023-02-20 1591 ENSG00000019186 OTTHUMG00000032773 uc002xwv.3 U60669 NM_000782 "CCDS46616|CCDS33491" Q07973 24893882 MGI:88593 RGD:2462 126065 279838 objectId:1365 1.14.15.16 HGNC:2602 "ENST00000216862.8|NM_000782.5" HGNC:2602 -HGNC:2603 CYP26A1 cytochrome P450 family 26 subfamily A member 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "P450RAI|CP26|CYP26|P450RAI1" "cytochrome P450, subfamily XXVIA, polypeptide 1|cytochrome P450, family 26, subfamily A, polypeptide 1" Cytochrome P450 family 26 1013 1996-12-12 2015-12-09 2023-01-20 1592 ENSG00000095596 OTTHUMG00000018765 uc001kil.3 AF005418 NM_000783 "CCDS7427|CCDS7426" O43174 "9228017|9521883" MGI:1096359 RGD:620161 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP26A1 602239 470160 objectId:1366 HGNC:2603 "ENST00000224356.5|NM_000783.4" +HGNC:2600 CYP21A2 cytochrome P450 family 21 subfamily A member 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "P450c21B|CA21H|CPS1|CAH1" Steroid 21-monooxygenase "CYP21|CYP21B" "cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2|cytochrome P450, family 21, subfamily A, polypeptide 2" Cytochrome P450 family 21 1011 1986-01-01 2015-12-09 2023-01-20 1589 ENSG00000231852 OTTHUMG00000031069 uc021zxa.2 X58906 NM_000500 "CCDS47406|CCDS4735" P08686 MGI:88591 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP21A2|LRG_829|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_829.xml" 613815 120981 objectId:1364 1.14.14.16 HGNC:2600 "ENST00000644719.2|NM_000500.9" HGNC:2600 +HGNC:2602 CYP24A1 cytochrome P450 family 24 subfamily A member 1 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "CP24|P450-CC24|lncBCAS1-4_1" CYP24 "cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)|cytochrome P450, family 24, subfamily A, polypeptide 1" Cytochrome P450 family 24 1012 1992-09-09 2003-02-28 2015-12-09 2023-02-20 1591 ENSG00000019186 OTTHUMG00000032773 uc002xwv.3 U60669 NM_000782 "CCDS33491|CCDS46616" Q07973 24893882 MGI:88593 RGD:2462 126065 279838 objectId:1365 1.14.15.16 HGNC:2602 "ENST00000216862.8|NM_000782.5" HGNC:2602 +HGNC:2603 CYP26A1 cytochrome P450 family 26 subfamily A member 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "P450RAI|CP26|CYP26|P450RAI1" "cytochrome P450, subfamily XXVIA, polypeptide 1|cytochrome P450, family 26, subfamily A, polypeptide 1" Cytochrome P450 family 26 1013 1996-12-12 2015-12-09 2023-01-20 1592 ENSG00000095596 OTTHUMG00000018765 uc001kil.3 AF005418 NM_000783 "CCDS7426|CCDS7427" O43174 "9228017|9521883" MGI:1096359 RGD:620161 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP26A1 602239 470160 objectId:1366 HGNC:2603 "ENST00000224356.5|NM_000783.4" HGNC:20581 CYP26B1 cytochrome P450 family 26 subfamily B member 1 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 P450RAI-2 "cytochrome P450, family 26, subfamily B, polypeptide 1|cytochrome P450 family 26 subfamily A member 1" Cytochrome P450 family 26 1013 2004-01-26 2015-12-09 2023-01-20 56603 ENSG00000003137 OTTHUMG00000129756 uc002sih.3 NM_019885 "CCDS62934|CCDS1919" Q9NR63 10545224 MGI:2176159 RGD:631379 605207 299166 objectId:1367 HGNC:20581 "ENST00000001146.7|NM_019885.4" HGNC:20581 HGNC:20577 CYP26C1 cytochrome P450 family 26 subfamily C member 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 cytochrome P450, family 26, subfamily C, polypeptide 1 Cytochrome P450 family 26 1013 2003-11-18 2015-12-09 2023-01-20 340665 ENSG00000187553 OTTHUMG00000018766 uc010qns.2 NM_183374 CCDS7425 Q6V0L0 MGI:2679699 RGD:1308843 LRG_1290|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1290.xml 608428 320192 objectId:1368 HGNC:20577 "ENST00000651965.1|NM_183374.3" HGNC:20577 HGNC:55836 CYP26C1-DT CYP26C1 divergent transcript non-coding RNA RNA, long non-coding Approved 10q23.33 10q23.33 Divergent transcripts 1990 2021-08-02 2021-08-02 122455335 ENSG00000226425 @@ -6095,20 +6096,20 @@ HGNC:33480 CYP27C1 cytochrome P450 family 27 subfamily C member 1 protein-coding HGNC:17449 CYP39A1 cytochrome P450 family 39 subfamily A member 1 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1|cytochrome P450, family 39, subfamily A, polypeptide 1" Cytochrome P450 family 39 1015 2002-05-29 2015-12-09 2023-01-20 51302 ENSG00000146233 OTTHUMG00000014785 uc003oyf.3 AF237982 NM_001278738 "CCDS75465|CCDS4916" Q9NYL5 10748047 MGI:1927096 RGD:1307471 605994 objectId:1372 HGNC:17449 "ENST00000275016.3|NM_016593.5" HGNC:2641 CYP46A1 cytochrome P450 family 46 subfamily A member 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 CYP46 "cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)|cytochrome P450, family 46, subfamily A, polypeptide 1" Cytochrome P450 family 46 1016 1999-08-20 2003-02-28 2015-12-09 2023-01-20 10858 ENSG00000036530 OTTHUMG00000171510 uc001ygo.4 AF094480 NM_006668 CCDS9954 Q9Y6A2 10377398 MGI:1341877 RGD:1306605 604087 objectId:1373 HGNC:2641 "ENST00000261835.8|NM_006668.2" HGNC:42349 CYP46A4P cytochrome P450 family 46 subfamily A member 4, pseudogene pseudogene pseudogene Approved 1p33 01p33 CYP46A-se1[12:13:14] cytochrome P450, family 46, subfamily A, polypeptide 4, pseudogene Cytochrome P450 family 46 1016 2011-07-29 2015-12-09 2015-12-09 100874494 ENSG00000237180 OTTHUMG00000007962 NG_032510 PGOHUM00000261896 HGNC:42349 -HGNC:2649 CYP51A1 cytochrome P450 family 51 subfamily A member 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "CP51|CYPL1|P450L1|LDM|P450-14DM" CYP51 "cytochrome P450, 51 (lanosterol 14-alpha-demethylase)|cytochrome P450, family 51, subfamily A, polypeptide 1" Cytochrome P450 family 51 1017 1996-10-26 2003-02-28 2015-12-09 2023-01-20 1595 ENSG00000001630 OTTHUMG00000131131 uc003ulm.5 U51685 NM_000786 "CCDS55123|CCDS5623" Q16850 8975714 MGI:106040 RGD:2481 601637 objectId:1374 1.14.13.70 HGNC:2649 "ENST00000003100.13|NM_000786.4" +HGNC:2649 CYP51A1 cytochrome P450 family 51 subfamily A member 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "CP51|CYPL1|P450L1|LDM|P450-14DM" CYP51 "cytochrome P450, 51 (lanosterol 14-alpha-demethylase)|cytochrome P450, family 51, subfamily A, polypeptide 1" Cytochrome P450 family 51 1017 1996-10-26 2003-02-28 2015-12-09 2023-01-20 1595 ENSG00000001630 OTTHUMG00000131131 uc003ulm.5 U51685 NM_000786 "CCDS5623|CCDS55123" Q16850 8975714 MGI:106040 RGD:2481 601637 objectId:1374 1.14.13.70 HGNC:2649 "ENST00000003100.13|NM_000786.4" HGNC:50694 CYP51A1-AS1 CYP51A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.2 07q21.2 "ENST00000453068|LRRD1-AS1" CYP51A1 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-06-04 2014-11-19 2014-11-19 613126 ENSG00000188693 OTTHUMG00000156056 BC042829 NR_122109 24905231 CYP51A1-AS1 HGNC:50694 HGNC:20245 CYP51A1P1 cytochrome P450 family 51 subfamily A member 1 pseudogene 1 pseudogene pseudogene Approved 3p12.2 03p12.2 CYP51P1 "cytochrome P450, family 51, pseudogene 1|cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 1" Cytochrome P450 family 51 1017 2008-12-09 2013-11-15 2015-12-09 2015-12-09 83528 ENSG00000241095 OTTHUMG00000158947 U36926 NG_001294 8809088 PGOHUM00000237670 HGNC:20245 HGNC:20251 CYP51A1P2 cytochrome P450 family 51 subfamily A member 1 pseudogene 2 pseudogene pseudogene Approved 13q12.3 13q12.3 CYP51P2 "cytochrome P450, family 51, pseudogene 2|cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 2" Cytochrome P450 family 51 1017 2008-12-09 2013-11-15 2015-12-09 2015-12-09 83530 ENSG00000233588 OTTHUMG00000016651 U40053 NG_002766 8809088 PGOHUM00000248345 HGNC:20251 HGNC:41991 CYP51A1P3 cytochrome P450 family 51 subfamily A member 1 pseudogene 3 pseudogene pseudogene Approved 6q24.3 06q24.3 CYP51P3 "cytochrome P450, family 51, pseudogene 3|cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 3" Cytochrome P450 family 51 1017 2011-07-29 2013-11-15 2015-12-09 2015-12-09 100422264 ENSG00000215223 OTTHUMG00000015774 NG_025983 PGOHUM00000243811 HGNC:41991 -HGNC:22432 CYREN cell cycle regulator of NHEJ protein-coding gene gene with protein product Approved 7q33 07q33 "MGC5242|FLJ27285|FLJ22450|MRI|MRI-2" modulator of retrovirus infection C7orf49 chromosome 7 open reading frame 49 2006-09-08 2018-02-22 2018-02-22 2023-01-20 78996 ENSG00000122783 OTTHUMG00000155447 uc003vsl.4 BC000168 NM_024033 "CCDS5838|CCDS75663|CCDS59082" Q9BWK5 "28959974|17043244|27063109|24610814" MGI:1925662 RGD:1563238 616980 HGNC:22432 "ENST00000393114.8|NM_024033.4" +HGNC:22432 CYREN cell cycle regulator of NHEJ protein-coding gene gene with protein product Approved 7q33 07q33 "MGC5242|FLJ27285|FLJ22450|MRI|MRI-2" modulator of retrovirus infection C7orf49 chromosome 7 open reading frame 49 2006-09-08 2018-02-22 2018-02-22 2023-01-20 78996 ENSG00000122783 OTTHUMG00000155447 uc003vsl.4 BC000168 NM_024033 "CCDS75663|CCDS5838|CCDS59082" Q9BWK5 "28959974|17043244|27063109|24610814" MGI:1925662 RGD:1563238 616980 HGNC:22432 "ENST00000393114.8|NM_024033.4" HGNC:25373 CYRIA CYFIP related Rac1 interactor A protein-coding gene gene with protein product Approved 2p24.2 02p24.2 "DKFZP566A1524|FLJ11080|CYRI-A" FAM49A "family with sequence similarity 49, member A|family with sequence similarity 49 member A" 2004-08-20 2019-11-22 2019-11-22 2023-01-20 81553 ENSG00000197872 OTTHUMG00000090615 uc002rck.3 AK001942 NM_030797 CCDS1688 Q9H0Q0 31413787 MGI:1261783 RGD:1305961 HGNC:25373 "ENST00000381323.7|NM_030797.4" -HGNC:25216 CYRIB CYFIP related Rac1 interactor B protein-coding gene gene with protein product Approved 8q24.21 08q24.21 "BM-009|CYRI-B|CYRI" FAM49B "family with sequence similarity 49, member B|family with sequence similarity 49 member B" MicroRNA protein coding host genes 1691 2004-08-20 2019-11-22 2019-11-22 2023-01-20 51571 ENSG00000153310 OTTHUMG00000164805 uc003ysx.5 AF208851 NM_016623 "CCDS6361|CCDS94340|CCDS83327" Q9NUQ9 "29059164|31285585" MGI:1923520 RGD:1307697 617978 HGNC:25216 "ENST00000694912.1|NM_001353258.2" +HGNC:25216 CYRIB CYFIP related Rac1 interactor B protein-coding gene gene with protein product Approved 8q24.21 08q24.21 "BM-009|CYRI-B|CYRI" FAM49B "family with sequence similarity 49, member B|family with sequence similarity 49 member B" MicroRNA protein coding host genes 1691 2004-08-20 2019-11-22 2019-11-22 2023-01-20 51571 ENSG00000153310 OTTHUMG00000164805 uc003ysx.5 AF208851 NM_016623 "CCDS83327|CCDS94340|CCDS6361" Q9NUQ9 "29059164|31285585" MGI:1923520 RGD:1307697 617978 HGNC:25216 "ENST00000694912.1|NM_001353258.2" HGNC:18525 CYS1 cystin 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 2002-04-26 2023-01-20 192668 ENSG00000205795 OTTHUMG00000151703 uc002rag.3 "AF544983|AA446394" NM_001037160 CCDS33145 Q717R9 "12733055|11854326" MGI:2177632 RGD:1596023 618713 HGNC:18525 "ENST00000381813.5|NM_001037160.3" HGNC:18525 HGNC:17451 CYSLTR1 cysteinyl leukotriene receptor 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "CysLT1|CysLT(1)|CYSLT1R" Leukotriene receptors 204 2002-08-29 2023-01-20 10800 ENSG00000173198 OTTHUMG00000021889 uc010nmb.5 AF119711 NM_001282186 CCDS14439 Q9Y271 "10391245|10462554" MGI:1926218 RGD:619796 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CYSLTR1 300201 objectId:269 HGNC:17451 "ENST00000373304.4|NM_006639.4" HGNC:18274 CYSLTR2 cysteinyl leukotriene receptor 2 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "CysLT(2)|CYSLT2R" Leukotriene receptors 204 2002-08-29 2023-01-20 57105 ENSG00000152207 OTTHUMG00000016906 uc010ada.2 AB038269 NM_001308465 CCDS9412 Q9NS75 "10913337|1085123" MGI:1917336 RGD:619797 605666 476812 objectId:270 HGNC:18274 "ENST00000682523.1|NM_001308476.3" HGNC:30529 CYSRT1 cysteine rich tail 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC59937 Similar to RIKEN cDNA 2310002J15 gene C9orf169 chromosome 9 open reading frame 169 2008-07-03 2014-05-30 2016-01-28 2023-01-20 375791 ENSG00000197191 OTTHUMG00000153383 NM_199001 CCDS48064 A8MQ03 12477932 MGI:1915109 RGD:1560880 HGNC:30529 "ENST00000650725.2|NM_199001.5" HGNC:30239 CYSTM1 cysteine rich transmembrane module containing 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 ORF1-FL49 C5orf32 chromosome 5 open reading frame 32 2006-08-24 2012-02-23 2016-01-28 2023-01-20 84418 ENSG00000120306 OTTHUMG00000129243 uc003lfd.4 AJ245877 NM_032412 CCDS4221 Q9H1C7 19933165 MGI:1913310 RGD:2323233 HGNC:30239 "ENST00000261811.6|NM_032412.4" -HGNC:9501 CYTH1 cytohesin 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "B2-1|D17S811E|cytohesin-1" PSCD1 pleckstrin homology, Sec7 and coiled-coil domains 1 "Pleckstrin homology domain containing|Cytohesins" "682|1946" 1998-11-19 2008-08-14 2008-08-14 2023-01-20 9267 ENSG00000108669 OTTHUMG00000150253 uc002jvw.4 M85169 NM_004762 "CCDS92406|CCDS86644|CCDS32754|CCDS42392" Q15438 "1511013|8449036|21628335|20018626" MGI:1334257 RGD:620397 182115 HGNC:9501 "ENST00000446868.8|NM_004762.6" +HGNC:9501 CYTH1 cytohesin 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "B2-1|D17S811E|cytohesin-1" PSCD1 pleckstrin homology, Sec7 and coiled-coil domains 1 "Pleckstrin homology domain containing|Cytohesins" "682|1946" 1998-11-19 2008-08-14 2008-08-14 2023-01-20 9267 ENSG00000108669 OTTHUMG00000150253 uc002jvw.4 M85169 NM_004762 "CCDS92406|CCDS32754|CCDS86644|CCDS42392" Q15438 "1511013|8449036|21628335|20018626" MGI:1334257 RGD:620397 182115 HGNC:9501 "ENST00000446868.8|NM_004762.6" HGNC:54900 CYTH1P1 CYTH1 pseudogene 1 pseudogene pseudogene Approved Xp22.11 Xp22.11 2020-04-17 2020-04-17 100418871 ENSG00000271286 NG_026803 HGNC:9502 CYTH2 cytohesin 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "CTS18.1|Sec7p-L|ARNO|Sec7p-like|cytohesin-2" "PSCD2L|PSCD2" "pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)|pleckstrin homology, Sec7 and coiled-coil domains 2" "Pleckstrin homology domain containing|Cytohesins" "682|1946" 1998-11-19 2008-08-14 2008-08-14 2023-01-20 9266 ENSG00000105443 OTTHUMG00000150245 uc002pjj.5 X99753 NM_004228 "CCDS86786|CCDS12722" Q99418 "8706128|8945478|20525696" MGI:1334255 RGD:620398 602488 HGNC:9502 "ENST00000452733.7|NM_004228.7" HGNC:9504 CYTH3 cytohesin 3 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "GRP1|ARNO3|cytohesin-3" PSCD3 pleckstrin homology, Sec7 and coiled-coil domains 3 "Pleckstrin homology domain containing|Cytohesins" "682|1946" 1998-11-19 2008-08-14 2008-08-14 2023-01-20 9265 ENSG00000008256 OTTHUMG00000023440 uc003spt.4 AJ223957 NM_004227 CCDS5346 O43739 9072969 MGI:1335107 RGD:620399 605081 HGNC:9504 "ENST00000350796.8|NM_004227.4" @@ -6116,22 +6117,22 @@ HGNC:9505 CYTH4 cytohesin 4 protein-coding gene gene with protein product Approv HGNC:9506 CYTIP cytohesin 1 interacting protein protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "B3-1|HE|CYBR|CASP|CYTHIP" "cytohesin binding protein HE|cytohesin binder and regulator" PSCDBP pleckstrin homology, Sec7 and coiled-coil domains, binding protein PDZ domain containing 1220 1999-07-19 2008-08-19 2008-08-14 2023-01-20 9595 ENSG00000115165 OTTHUMG00000154551 uc002tzj.2 L06633 NM_004288 CCDS2204 O60759 "18926288|10343115|11867758|20530790|21562043" MGI:2183535 RGD:1307990 604448 HGNC:9506 "ENST00000264192.8|NM_004288.5" HGNC:24435 CYTL1 cytokine like 1 protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "C17|C4orf4" cytokine-like 1 2005-02-01 2015-11-09 2023-01-20 54360 ENSG00000170891 OTTHUMG00000125479 uc003gig.5 AF193766 NM_018659 CCDS3379 Q9NRR1 "10857752|31089746" MGI:2684993 RGD:1561846 607930 HGNC:24435 "ENST00000307746.9|NM_018659.3" HGNC:28717 CYTOR cytoskeleton regulator RNA non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 MGC4677 "C2orf59|NCRNA00152|LINC00152" "chromosome 2 open reading frame 59|non-protein coding RNA 152|long intergenic non-protein coding RNA 152" Long non-coding RNAs with non-systematic symbols 1992 2007-06-14 2016-09-19 2016-09-19 2023-03-15 112597 ENSG00000222041 OTTHUMG00000130273 uc061loh.1 BC009508 NR_024204 "27617288|24523021|24036268|26237576" HGNC:28717 -HGNC:16274 CYYR1 cysteine and tyrosine rich 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 C21orf95 cysteine/tyrosine-rich 1 2001-07-23 2016-04-21 2023-01-20 116159 ENSG00000166265 OTTHUMG00000078689 uc002ymd.4 AY061853 NM_052954 "CCDS13578|CCDS93083" Q96J86 "12036297|12062809|24981926" MGI:2152187 RGD:1359578 616020 HGNC:16274 "ENST00000652641.2|NM_001320768.2" +HGNC:16274 CYYR1 cysteine and tyrosine rich 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 C21orf95 cysteine/tyrosine-rich 1 2001-07-23 2016-04-21 2023-01-20 116159 ENSG00000166265 OTTHUMG00000078689 uc002ymd.4 AY061853 NM_052954 "CCDS93083|CCDS13578" Q96J86 "12036297|12062809|24981926" MGI:2152187 RGD:1359578 616020 HGNC:16274 "ENST00000652641.2|NM_001320768.2" HGNC:39560 CYYR1-AS1 CYYR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 "cysteine/tyrosine-rich 1 antisense RNA 1|cysteine and tyrosine rich 1 antisense RNA 1" Antisense RNAs 1987 2014-07-01 2019-12-13 2019-12-13 100996571 ENSG00000197934 OTTHUMG00000078660 AK125338 NR_135515 24981926 616021 CYYR1-AS1 HGNC:39560 HGNC:26059 CZIB CXXC motif containing zinc binding protein protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ20580 C1orf123 chromosome 1 open reading frame 123 2005-06-21 2018-10-29 2018-10-29 2023-01-20 54987 ENSG00000162384 OTTHUMG00000008940 uc001cvd.4 BC010908 NM_017887 CCDS576 Q9NWV4 "21798097|26919524|30260988|30280012" MGI:1921348 RGD:1559786 HGNC:26059 "ENST00000294360.5|NM_017887.3" -HGNC:55408 CZIB-DT CZIB divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Divergent transcripts 1990 2021-01-06 2021-01-06 120017342 ENSG00000259818 +HGNC:55408 CZIB-DT CZIB divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Divergent transcripts 1990 2021-01-06 2021-01-06 120017342 ENSG00000259818 NR_185918 HGNC:28358 D2HGDH D-2-hydroxyglutarate dehydrogenase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "MGC25181|D2HGD|FLJ42195" 2006-03-09 2023-01-20 728294 ENSG00000180902 OTTHUMG00000151474 uc002wce.3 AK091725 NM_152783 "CCDS33426|CCDS74684" Q8N465 "15070399|15609246" MGI:2138209 RGD:1307976 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/D2HGDH 609186 121007 1.1.99.- HGNC:28358 "ENST00000321264.9|NM_152783.5" HGNC:28358 HGNC:18142 DAAM1 dishevelled associated activator of morphogenesis 1 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 KIAA0666 "Armadillo like helical domain containing|Formins" "1492|2006" 2002-02-06 2023-01-20 23002 ENSG00000100592 OTTHUMG00000140326 uc001xea.3 AB014566 NM_014992 "CCDS58323|CCDS9737" Q9Y4D1 "11779461|18162551" MGI:1914596 RGD:1305119 606626 HGNC:18142 "ENST00000360909.8|NM_001270520.2" HGNC:18143 DAAM2 dishevelled associated activator of morphogenesis 2 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "KIAA0381|NPHS24" "Armadillo like helical domain containing|Formins" "1492|2006" 2002-02-06 2023-01-20 23500 ENSG00000146122 OTTHUMG00000014653 uc003oox.3 AB002379 NM_001201427 "CCDS54999|CCDS56426" Q86T65 "11779461|12632087" MGI:1923691 RGD:1306128 606627 HGNC:18143 "ENST00000274867.9|NM_001201427.2" HGNC:18143 HGNC:40830 DAAM2-AS1 DAAM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 Antisense RNAs 1987 2019-07-25 2019-07-25 100505635 ENSG00000235033 OTTHUMG00000014652 NR_125831 HGNC:40830 HGNC:2661 DAB1 DAB adaptor protein 1 protein-coding gene gene with protein product Approved 1p32.2 01p32.2 yotari "disabled (Drosophila) homolog 1|disabled homolog 1 (Drosophila)|Dab reelin signal transducer 1|Dab, reelin signal transducer, homolog 1 (Drosophila)|DAB1, reelin adaptor protein" 1998-06-12 2019-01-31 2023-01-20 1600 ENSG00000173406 OTTHUMG00000008391 uc057gxe.1 BC067445 NM_021080 CCDS607 O75553 "9790777|26441085" MGI:108554 RGD:628770 603448 HGNC:2661 "ENST00000371236.7|NM_001365792.1" HGNC:2661 HGNC:49443 DAB1-AS1 DAB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.2 01p32.2 Antisense RNAs 1987 2013-12-03 2013-12-03 101926890 ENSG00000226759 OTTHUMG00000008286 NR_104362 DAB1-AS1 HGNC:49443 -HGNC:2662 DAB2 DAB adaptor protein 2 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 DOC-2 "disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)|disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)|Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)|DAB2, clathrin adaptor protein" 1998-07-29 2019-01-31 2023-01-20 1601 ENSG00000153071 OTTHUMG00000162043 uc003jlx.4 U53446 NM_001343 "CCDS34149|CCDS58946" P98082 "8660969|9620555" MGI:109175 RGD:621007 601236 HGNC:2662 "ENST00000320816.11|NM_001343.4" +HGNC:2662 DAB2 DAB adaptor protein 2 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 DOC-2 "disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)|disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)|Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)|DAB2, clathrin adaptor protein" 1998-07-29 2019-01-31 2023-01-20 1601 ENSG00000153071 OTTHUMG00000162043 uc003jlx.4 U53446 NM_001343 "CCDS58946|CCDS34149" P98082 "8660969|9620555" MGI:109175 RGD:621007 601236 HGNC:2662 "ENST00000320816.11|NM_001343.4" HGNC:17294 DAB2IP DAB2 interacting protein protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "AF9Q34|DIP1/2|KIAA1743|AIP1" "nGAP-like protein|DOC-2/DAB2 interactive protein|ASK-interacting protein|ASK1-interacting protein 1" C2 and RasGAP domain containing 830 2002-01-23 2023-01-20 153090 ENSG00000136848 OTTHUMG00000020595 uc004bln.5 AF367051 NM_032552 "CCDS6832|CCDS94477|CCDS6833" Q5VWQ8 "11944990|11812785" MGI:1916851 RGD:621686 609205 HGNC:17294 "ENST00000408936.8|NM_001395010.1" HGNC:2663 DACH1 dachshund family transcription factor 1 protein-coding gene gene with protein product Approved 13q21.33 13q21.33 DACH "dachshund homolog (Drosophila)|dachshund homolog 1 (Drosophila)" 1998-04-06 2004-04-02 2014-02-03 2023-03-15 1602 ENSG00000276644 OTTHUMG00000017063 uc058xki.1 AJ005670 NM_004392 "CCDS41899|CCDS91814" Q9UI36 "9933575|10395809|15057823" MGI:1277991 RGD:1592073 603803 HGNC:2663 "ENST00000613252.5|NM_080759.6" -HGNC:16814 DACH2 dachshund family transcription factor 2 protein-coding gene gene with protein product Approved Xq21.2 Xq21.2 dachshund homolog 2 (Drosophila) 2001-11-08 2014-02-03 2023-01-20 117154 ENSG00000126733 OTTHUMG00000021944 uc004eew.3 AF428101 NM_053281 "CCDS55457|CCDS14455|CCDS48140" Q96NX9 MGI:1890446 RGD:1561687 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DACH2 300608 HGNC:16814 "ENST00000373125.9|NM_053281.3" +HGNC:16814 DACH2 dachshund family transcription factor 2 protein-coding gene gene with protein product Approved Xq21.2 Xq21.2 dachshund homolog 2 (Drosophila) 2001-11-08 2014-02-03 2023-01-20 117154 ENSG00000126733 OTTHUMG00000021944 uc004eew.3 AF428101 NM_053281 "CCDS48140|CCDS55457|CCDS14455" Q96NX9 MGI:1890446 RGD:1561687 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DACH2 300608 HGNC:16814 "ENST00000373125.9|NM_053281.3" HGNC:51902 DACOR1 DNMT1-associated colon cancer repressed lncRNA 1 non-coding RNA RNA, long non-coding Approved 15q22.33 15q22.33 TCONS_00023265 Long non-coding RNAs with non-systematic symbols 1992 2015-09-18 2015-09-18 100131796 26307088 -HGNC:17748 DACT1 dishevelled binding antagonist of beta catenin 1 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "DAPPER1|THYEX3|HDPR1|DAPPER|FRODO" "dapper homolog 1, antagonist of beta-catenin (xenopus)|dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)" dishevelled binding antagonist of beta catenin family 2033 2003-01-15 2016-05-03 2023-01-20 51339 ENSG00000165617 OTTHUMG00000140324 uc001xdw.4 AF251079 NM_016651 "CCDS9736|CCDS41961" Q9NYF0 11970895 MGI:1891740 RGD:1564008 607861 315395 HGNC:17748 "ENST00000395153.8|NM_001079520.2" HGNC:17748 +HGNC:17748 DACT1 dishevelled binding antagonist of beta catenin 1 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "DAPPER1|THYEX3|HDPR1|DAPPER|FRODO" "dapper homolog 1, antagonist of beta-catenin (xenopus)|dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)" dishevelled binding antagonist of beta catenin family 2033 2003-01-15 2016-05-03 2023-01-20 51339 ENSG00000165617 OTTHUMG00000140324 uc001xdw.4 AF251079 NM_016651 "CCDS41961|CCDS9736" Q9NYF0 11970895 MGI:1891740 RGD:1564008 607861 315395 HGNC:17748 "ENST00000395153.8|NM_001079520.2" HGNC:17748 HGNC:21231 DACT2 dishevelled binding antagonist of beta catenin 2 protein-coding gene gene with protein product Approved 6q27 06q27 "bA503C24.7|DAPPER2" C6orf116 "chromosome 6 open reading frame 116|dapper homolog 2, antagonist of beta-catenin (xenopus)|dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)" dishevelled binding antagonist of beta catenin family 2033 2003-05-29 2003-09-17 2016-05-03 2023-01-20 168002 ENSG00000164488 OTTHUMG00000016046 uc003qwq.5 AF318336 NM_001286350 "CCDS75554|CCDS69241|CCDS47519" Q5SW24 MGI:1920347 RGD:1310742 608966 HGNC:21231 "ENST00000366795.4|NM_214462.5" HGNC:30745 DACT3 dishevelled binding antagonist of beta catenin 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "MGC15476|DAPPER3" RRR1 "arginine rich region 1|dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)" dishevelled binding antagonist of beta catenin family 2033 2006-09-14 2006-09-25 2016-05-03 2023-01-20 147906 ENSG00000197380 OTTHUMG00000153070 uc010ekq.3 NM_145056 "CCDS74402|CCDS12688" Q96B18 16881060 MGI:3654828 RGD:1563892 611112 HGNC:30745 "ENST00000391916.7|NM_145056.3" HGNC:44120 DACT3-AS1 DACT3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.32 19q13.32 DACT3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100506068 ENSG00000245598 OTTHUMG00000165987 uc021uwh.2 BC043434 NR_040041 DACT3-AS1 HGNC:44120 @@ -6139,19 +6140,19 @@ HGNC:2664 DAD1 defender against cell death 1 protein-coding gene gene with prote HGNC:18295 DAD1P1 defender against cell death 1 pseudogene 1 pseudogene pseudogene Approved 12p12.1 12p12.1 DAD-R DAD1L defender against cell death 1-like 2007-07-26 2010-10-15 2010-10-15 2010-10-15 56286 NR_024064 "10812081|11912161" 609860 PGOHUM00000239371 HGNC:18295 HGNC:2666 DAG1 dystroglycan 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "A3a|156DAG|AGRNR|DAG" "alpha-dystroglycan|dystrophin-associated glycoprotein-1|beta-dystroglycan" dystroglycan 1 (dystrophin-associated glycoprotein 1) 1997-07-22 2015-11-19 2023-01-20 1605 ENSG00000173402 OTTHUMG00000156869 uc021wxz.1 L19711 NM_001165928 CCDS2799 Q14118 "7774920|1741056" MGI:101864 RGD:621890 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DAG1|LRG_854|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_854.xml" 128239 280347 S72.001 HGNC:2666 "ENST00000308775.7|NM_004393.6" HGNC:2666 HGNC:1165 DAGLA diacylglycerol lipase alpha protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "KIAA0659|NSDDR|DAGLALPHA" neural stem cell-derived dendrite regulator C11orf11 "chromosome 11 open reading frame 11|diacylglycerol lipase, alpha" Lipases 464 1998-07-30 2007-02-28 2016-02-12 2023-01-20 747 ENSG00000134780 OTTHUMG00000168160 uc001nsa.4 AB014559 NM_006133 CCDS31578 Q9Y4D2 9734811 MGI:2677061 RGD:1359461 614015 objectId:1396 3.1.1.- HGNC:1165 "ENST00000257215.10|NM_006133.3" -HGNC:28923 DAGLB diacylglycerol lipase beta protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "KCCR13L|DAGLBETA" diacylglycerol lipase, beta Lipases 464 2007-02-28 2016-02-12 2023-01-20 221955 ENSG00000164535 OTTHUMG00000125513 uc003sqa.4 AF450090 NM_139179 "CCDS47536|CCDS5350" Q8NCG7 MGI:2442032 RGD:1310193 614016 objectId:1397 3.1.1.- HGNC:28923 "ENST00000297056.11|NM_139179.4" +HGNC:28923 DAGLB diacylglycerol lipase beta protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "KCCR13L|DAGLBETA" diacylglycerol lipase, beta Lipases 464 2007-02-28 2016-02-12 2023-01-20 221955 ENSG00000164535 OTTHUMG00000125513 uc003sqa.4 AF450090 NM_139179 "CCDS5350|CCDS47536" Q8NCG7 MGI:2442032 RGD:1310193 614016 objectId:1397 3.1.1.- HGNC:28923 "ENST00000297056.11|NM_139179.4" HGNC:51429 DALIR DNMT1-associated long intergenic non-coding RNA non-coding RNA RNA, long non-coding Approved 2q12 02q12 DALI DNMT1-Associated Long Intergenic Long non-coding RNAs with non-systematic symbols 1992 2014-12-10 2015-01-09 104940698 "BE439524|DA337013|EB386236" 25415054 MGI:5579231 -HGNC:25536 DALRD3 DALR anticodon binding domain containing 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ10496 MicroRNA protein coding host genes 1691 2005-01-10 2023-01-20 55152 ENSG00000178149 OTTHUMG00000156748 uc003cvm.4 BC014099 NM_018114 "CCDS33754|CCDS2783|CCDS63632" Q5D0E6 23505378 MGI:1915039 RGD:1359206 618904 HGNC:25536 "ENST00000341949.9|NM_001009996.3" HGNC:25536 +HGNC:25536 DALRD3 DALR anticodon binding domain containing 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ10496 MicroRNA protein coding host genes 1691 2005-01-10 2023-01-20 55152 ENSG00000178149 OTTHUMG00000156748 uc003cvm.4 BC014099 NM_018114 "CCDS33754|CCDS63632|CCDS2783" Q5D0E6 23505378 MGI:1915039 RGD:1359206 618904 HGNC:25536 "ENST00000341949.9|NM_001009996.3" HGNC:25536 HGNC:28964 DANCR differentiation antagonizing non-protein coding RNA non-coding RNA RNA, long non-coding Approved 4q12 04q12 "ANCR|AGU2|lncRNA-ANCR" "anti-differentiation ncRNA|adipogenesis up-regulated transcript 2|anti-differentiation noncoding RNA" "KIAA0114|SNHG13" "KIAA0114|small nucleolar RNA host gene 13 (non-protein coding)" "MicroRNA non-coding host genes|Small nucleolar RNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1839|1992" 2006-08-04 2012-02-09 2012-02-09 2015-01-23 57291 ENSG00000226950 OTTHUMG00000154670 uc062woz.1 BC015222 NR_024031 P0C864 "7788527|22302877|19531736" MGI:1917286 RGD:6489076 614625 DANCR HGNC:28964 HGNC:26780 DAND5 DAN domain BMP antagonist family member 5 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "FLJ38607|CKTSF1B3|DANTE|GREM3|CER2|DTE|Coco" DAN domain family member 5, BMP antagonist DAN family 1246 2005-01-04 2016-04-27 2023-01-20 199699 ENSG00000179284 OTTHUMG00000180725 uc002mwc.2 AK095926 NM_152654 CCDS12291 Q8N907 15254711 MGI:1344365 RGD:1590249 609068 HGNC:26780 "ENST00000317060.4|NM_152654.3" HGNC:50863 DANT1 DXZ4 associated non-coding transcript 1, proximal non-coding RNA RNA, long non-coding Approved Xq23 Xq23 Long non-coding RNAs with non-systematic symbols 1992 2015-07-29 2018-08-17 106029310 ENSG00000229335 OTTHUMG00000033102 CD173052 NR_147172 26188586 301001 DANT1 HGNC:50863 HGNC:50862 DANT2 DXZ4 associated non-coding transcript 2, distal non-coding RNA RNA, long non-coding Approved Xq23 Xq23 Long non-coding RNAs with non-systematic symbols 1992 2015-07-29 2015-07-29 642776 ENSG00000235244 OTTHUMG00000022240 NR_132337 26188586 301004 DANT2 HGNC:50862 HGNC:2671 DAO D-amino acid oxidase protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "DAMOX|DAAO" 1992-11-25 2016-07-04 2023-01-20 1610 ENSG00000110887 OTTHUMG00000169360 uc001tnr.5 D11370 NM_001413634 CCDS9122 P14920 1356107 MGI:94859 RGD:621138 124050 231605 1.4.3.3 HGNC:2671 "ENST00000228476.8|NM_001917.5" HGNC:2671 -HGNC:21191 DAOA D-amino acid oxidase activator protein-coding gene gene with protein product Approved 13q33.2 13q33.2 G72 G72 transcript 2003-12-09 2023-01-20 267012 ENSG00000182346 OTTHUMG00000041333 uc001vqb.5 AY138547 NM_172370 "CCDS59242|CCDS53880|CCDS41905|CCDS91834" P59103 "12364586|15057823" 607408 HGNC:21191 "ENST00000375936.9|NM_172370.5" +HGNC:21191 DAOA D-amino acid oxidase activator protein-coding gene gene with protein product Approved 13q33.2 13q33.2 G72 G72 transcript 2003-12-09 2023-01-20 267012 ENSG00000182346 OTTHUMG00000041333 uc001vqb.5 AY138547 NM_172370 "CCDS41905|CCDS91834|CCDS53880|CCDS59242" P59103 "12364586|15057823" 607408 HGNC:21191 "ENST00000375936.9|NM_172370.5" HGNC:30243 DAOA-AS1 DAOA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q33.2 13q33.2 G30 G30 transcript "DAOAAS|DAOA-AS" "DAOA antisense RNA (non-protein coding)|DAOA antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-08-05 2010-11-25 2012-08-15 2014-11-19 282706 ENSG00000232307 OTTHUMG00000041332 uc021rmh.3 AY138548 NR_040247 "12364586|12647258" 607415 DAOA-AS1 HGNC:30243 HGNC:2672 DAP death associated protein protein-coding gene gene with protein product Approved 5p15.2 05p15.2 DAP1 death associated protein 1 1995-04-27 2016-07-04 2023-01-20 1611 ENSG00000112977 OTTHUMG00000131041 uc003jez.5 X76105 NM_004394 "CCDS3880|CCDS77997" P51397 "8530096|7828849" MGI:1918190 RGD:620641 600954 HGNC:2672 "ENST00000230895.11|NM_004394.3" HGNC:55214 DAP-DT DAP divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 Divergent transcripts 1990 2020-08-21 2020-08-21 105374652 ENSG00000272324 XR_002956210 -HGNC:2673 DAP3 death associated protein 3 protein-coding gene gene with protein product Approved 1q22 01q22 "MRPS29|DAP-3|MRP-S29|bMRP-10|MGC126058|MGC126059|DKFZp686G12159" mitochondrial 28S ribosomal protein S29 Mitochondrial ribosomal proteins 646 1999-05-14 2023-01-20 7818 ENSG00000132676 OTTHUMG00000035439 uc001flr.4 X83544 NM_004632 "CCDS55646|CCDS55647|CCDS1120" P51398 "7499268|9284927" MGI:1929538 RGD:1305339 602074 HGNC:2673 "ENST00000368336.10|NM_004632.4" +HGNC:2673 DAP3 death associated protein 3 protein-coding gene gene with protein product Approved 1q22 01q22 "MRPS29|DAP-3|MRP-S29|bMRP-10|MGC126058|MGC126059|DKFZp686G12159" mitochondrial 28S ribosomal protein S29 Mitochondrial ribosomal proteins 646 1999-05-14 2023-01-20 7818 ENSG00000132676 OTTHUMG00000035439 uc001flr.4 X83544 NM_004632 "CCDS1120|CCDS55647|CCDS55646" P51398 "7499268|9284927" MGI:1929538 RGD:1305339 602074 HGNC:2673 "ENST00000368336.10|NM_004632.4" HGNC:17624 DAP3P1 death associated protein 3 pseudogene 1 pseudogene pseudogene Approved 1q22 01q22 MRPS29P1 mitochondrial ribosomal protein S29 pseudogene 1 DAP3P DAP3 pseudogene 2006-03-22 2010-09-24 2010-09-24 2020-04-20 359804 ENSG00000225082 OTTHUMG00000014013 NG_002904 16545939 PGOHUM00000245014 HGNC:17624 HGNC:29762 DAP3P2 death associated protein 3 pseudogene 2 pseudogene pseudogene Approved 2q31.1 02q31.1 MRPS29P2 mitochondrial ribosomal protein S29 pseudogene 2 2010-09-29 2012-11-14 2012-11-14 2012-11-14 359774 ENSG00000228507 OTTHUMG00000154084 NG_002890 12706105 PGOHUM00000241015 HGNC:29762 HGNC:2674 DAPK1 death associated protein kinase 1 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 DAPK death-associated protein kinase 1 "Ankyrin repeat domain containing|Death associated protein kinases|ROCO family" "403|1021|1421" 1995-04-27 2016-03-15 2023-01-20 1612 ENSG00000196730 OTTHUMG00000020150 uc033czy.2 X76104 NM_004938 CCDS43842 P53355 8530096 MGI:1916885 RGD:1311629 600831 objectId:2002 HGNC:2674 "ENST00000408954.8|NM_004938.4" HGNC:2674 @@ -6159,18 +6160,18 @@ HGNC:43591 DAPK1-IT1 DAPK1 intronic transcript 1 non-coding RNA RNA, long non-co HGNC:2675 DAPK2 death associated protein kinase 2 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "DRP-1|MGC119312" Death associated protein kinases 1021 1999-10-19 2016-05-31 2023-01-20 23604 ENSG00000035664 OTTHUMG00000132947 uc002amr.4 AB018001 NM_014326 "CCDS86463|CCDS10188" Q9UIK4 10376525 MGI:1341297 RGD:1304708 616567 objectId:2003 HGNC:2675 "ENST00000457488.6|NM_014326.5" HGNC:2676 DAPK3 death associated protein kinase 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ZIP|ZIPK" "Death associated protein kinases|MicroRNA protein coding host genes" "1021|1691" 1998-05-05 2016-05-31 2023-01-20 1613 ENSG00000167657 OTTHUMG00000181825 uc002lzd.2 AB007144 NM_001348 CCDS12116 O43293 9488481 MGI:1203520 RGD:621766 603289 470168 objectId:2004 HGNC:2676 "ENST00000545797.7|NM_001348.3" HGNC:21490 DAPL1 death associated protein like 1 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 death associated protein-like 1 2003-06-18 2015-11-12 2023-01-20 92196 ENSG00000163331 OTTHUMG00000153970 uc002uaf.4 NM_001017920 CCDS33307 A0PJW8 MGI:1923997 RGD:1309610 HGNC:21490 "ENST00000309950.8|NM_001017920.3" -HGNC:16500 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 protein-coding gene gene with protein product Approved 4q23 04q23 BAM32 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 2001-09-07 2016-05-27 2023-01-20 27071 ENSG00000070190 OTTHUMG00000160974 uc003hvf.5 AF186022 NM_001306151 "CCDS77945|CCDS47112" Q9UN19 10432293 MGI:1347063 RGD:1310189 605768 HGNC:16500 "ENST00000512369.2|NM_014395.3" +HGNC:16500 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 protein-coding gene gene with protein product Approved 4q23 04q23 BAM32 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 2001-09-07 2016-05-27 2023-01-20 27071 ENSG00000070190 OTTHUMG00000160974 uc003hvf.5 AF186022 NM_001306151 "CCDS47112|CCDS77945" Q9UN19 10432293 MGI:1347063 RGD:1310189 605768 HGNC:16500 "ENST00000512369.2|NM_014395.3" HGNC:2678 DARS1 aspartyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 aspartate tRNA ligase 1, cytoplasmic DARS aspartyl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 1998-04-22 2019-07-15 2019-07-15 2023-01-20 1615 ENSG00000115866 OTTHUMG00000131741 uc002tux.2 J05032 NM_001349 CCDS2180 P14868 2674137 MGI:2442544 RGD:621167 603084 364846 6.1.1.12 HGNC:2678 "ENST00000264161.9|NM_001349.4" HGNC:2678 HGNC:40170 DARS1-AS1 DARS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.3 02q21.3 DARS-AS1 DARS antisense RNA 1 Antisense RNAs 1987 2014-07-30 2020-08-05 2020-08-05 2020-08-05 101928243 ENSG00000231890 OTTHUMG00000153578 NR_110199 "28420760|31289203" DARS-AS1 HGNC:40170 HGNC:25538 DARS2 aspartyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "FLJ10514|mtAspRS" aspartate tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class II 132 2005-06-28 2007-02-23 2023-01-20 55157 ENSG00000117593 OTTHUMG00000034803 uc001gjh.3 AK022754 NM_018122 "CCDS91109|CCDS91108|CCDS1311" Q6PI48 15779907 MGI:2442510 RGD:1308286 LRG_1270|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1270.xml 610956 158065 6.1.1.12 HGNC:25538 "ENST00000649689.2|NM_018122.5" HGNC:25538 HGNC:26383 DAW1 dynein assembly factor with WD repeats 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "FLJ25955|ODA16|DNAAF18" "outer row dynein assembly 16 homolog (Chlamydomonas)|dynein axonemal assembly factor 18" WDR69 WD repeat domain 69 "WD repeat domain containing|Axonemal dynein assembly factors" "362|1627" 2005-05-26 2013-02-19 2016-01-26 2023-01-20 164781 ENSG00000123977 OTTHUMG00000133190 uc002vpn.2 NM_178821 CCDS2470 Q8N136 "20568242|21953912" MGI:1923089 RGD:1561436 620279 HGNC:26383 "ENST00000309931.3|NM_178821.3" -HGNC:2681 DAXX death domain associated protein protein-coding gene gene with protein product Approved 6p21.32 06p21.32 DAP6 death-associated protein 6 1998-03-25 2016-07-04 2023-01-20 1616 ENSG00000204209 OTTHUMG00000031203 uc011drd.3 AF006041 NM_001141969 "CCDS93890|CCDS4776|CCDS59008" Q9UER7 "9407001|9215629" MGI:1197015 RGD:621227 DAXX 603186 470170 HGNC:2681 "ENST00000374542.10|NM_001141969.2" +HGNC:2681 DAXX death domain associated protein protein-coding gene gene with protein product Approved 6p21.32 06p21.32 DAP6 death-associated protein 6 1998-03-25 2016-07-04 2023-01-20 1616 ENSG00000204209 OTTHUMG00000031203 uc011drd.3 AF006041 NM_001141969 "CCDS4776|CCDS59008|CCDS93890" Q9UER7 "9407001|9215629" MGI:1197015 RGD:621227 DAXX 603186 470170 HGNC:2681 "ENST00000374542.10|NM_001141969.2" HGNC:2682 DAZ1 deleted in azoospermia 1 protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 SPGY DAZ deleted in azoospermia "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 1996-04-12 2005-01-22 2005-01-21 2023-01-20 1617 ENSG00000188120 OTTHUMG00000044053 uc004fvl.4 NM_004081 "CCDS48209|CCDS94718" Q9NQZ3 7670487 MGI:1342328 400003 121012 HGNC:2682 "ENST00000405239.6|NM_004081.7" HGNC:15964 DAZ2 deleted in azoospermia 2 protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 "pDP1678|MGC126442" "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 2001-06-25 2023-03-15 57055 ENSG00000205944 OTTHUMG00000044060 uc065cvg.1 AF248480 NM_020363 CCDS94719 Q13117 10936047 MGI:1342328 400026 121016 HGNC:15964 "ENST00000382440.6|NM_001389303.1" HGNC:15965 DAZ3 deleted in azoospermia 3 protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 2001-06-25 2023-01-20 57054 ENSG00000187191 OTTHUMG00000045099 uc004fwk.4 AF248481 NM_020364 CCDS35489 Q9NR90 10936047 MGI:1342328 400027 121018 HGNC:15965 "ENST00000382365.7|NM_020364.4" -HGNC:15966 DAZ4 deleted in azoospermia 4 protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 2001-06-25 2023-03-15 57135 ENSG00000205916 OTTHUMG00000045100 uc065cwa.1 AF248482 NM_001005375 "CCDS55557|CCDS94720" Q86SG3 "10936047|14639527" MGI:1342328 400048 121020 HGNC:15966 "ENST00000682740.1|NM_001388484.1" -HGNC:2683 DAZAP1 DAZ associated protein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC19907 deleted in azoospermia associated protein 1 RNA binding motif containing 725 1999-12-07 2023-01-20 26528 ENSG00000071626 OTTHUMG00000180058 uc002lsn.5 NM_170711 "CCDS12065|CCDS86685|CCDS86684|CCDS12066" Q96EP5 "10857750|23658607" MGI:1917498 RGD:1305280 607430 HGNC:2683 "ENST00000233078.9|NM_018959.4" -HGNC:2684 DAZAP2 DAZ associated protein 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KIAA0058 1999-12-07 2023-01-20 9802 ENSG00000183283 OTTHUMG00000169649 uc001ryb.4 D31767 NM_014764 "CCDS44888|CCDS44884|CCDS44886|CCDS44887|CCDS8809|CCDS44885" Q15038 "10857750|7584044" MGI:1344344 RGD:1307407 607431 HGNC:2684 "ENST00000412716.8|NM_014764.4" +HGNC:15966 DAZ4 deleted in azoospermia 4 protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 2001-06-25 2023-03-15 57135 ENSG00000205916 OTTHUMG00000045100 uc065cwa.1 AF248482 NM_001005375 "CCDS94720|CCDS55557" Q86SG3 "10936047|14639527" MGI:1342328 400048 121020 HGNC:15966 "ENST00000682740.1|NM_001388484.1" +HGNC:2683 DAZAP1 DAZ associated protein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC19907 deleted in azoospermia associated protein 1 RNA binding motif containing 725 1999-12-07 2023-01-20 26528 ENSG00000071626 OTTHUMG00000180058 uc002lsn.5 NM_170711 "CCDS12065|CCDS12066|CCDS86685|CCDS86684" Q96EP5 "10857750|23658607" MGI:1917498 RGD:1305280 607430 HGNC:2683 "ENST00000233078.9|NM_018959.4" +HGNC:2684 DAZAP2 DAZ associated protein 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KIAA0058 1999-12-07 2023-01-20 9802 ENSG00000183283 OTTHUMG00000169649 uc001ryb.4 D31767 NM_014764 "CCDS44888|CCDS8809|CCDS44884|CCDS44886|CCDS44885|CCDS44887" Q15038 "10857750|7584044" MGI:1344344 RGD:1307407 607431 HGNC:2684 "ENST00000412716.8|NM_014764.4" HGNC:43869 DAZAP2P1 DAZ associated protein 2 pseudogene 1 pseudogene pseudogene Approved 2q33.1 02q33.1 2012-04-04 2012-04-04 645805 ENSG00000223825 OTTHUMG00000154581 NG_008858 PGOHUM00000240482 HGNC:43869 HGNC:2685 DAZL deleted in azoospermia like protein-coding gene gene with protein product Approved 3p24.3 03p24.3 "DAZH|SPGYLA|MGC26406|DAZL1" DAZLA deleted in azoospermia-like "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 1997-04-25 2016-01-26 2023-01-20 1618 ENSG00000092345 OTTHUMG00000157050 uc062hfm.1 BC027595 NM_001351 "CCDS54556|CCDS43059" Q92904 8896558 MGI:1342328 RGD:1591714 601486 HGNC:2685 "ENST00000399444.7|NM_001351.4" HGNC:2685 HGNC:43904 DBET D4Z4 binding element transcript non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 "DBE-T|DUX4L30" chromatin-associated long non-coding RNA D4Z4 binding element transcript (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-10-08 2018-05-16 2020-04-20 100419743 ENSG00000281591 OTTHUMG00000189731 JQ639078 NR_121644 22541069 614865 dbet DBET HGNC:43904 @@ -6181,36 +6182,36 @@ HGNC:45060 DBF4P2 DBF4 zinc finger pseudogene 2 pseudogene pseudogene Approved 2 HGNC:45061 DBF4P3 DBF4 zinc finger pseudogene 3 pseudogene pseudogene Approved 2p11.2 02p11.2 DBF4 homolog pseudogene 3 2013-02-07 2014-02-17 2020-01-22 112272612 ENSG00000271097 NG_066014 PGOHUM00000240715 HGNC:45061 HGNC:2689 DBH dopamine beta-hydroxylase protein-coding gene gene with protein product Approved 9q34.2 09q34.2 DBM dopamine beta-monooxygenase dopamine beta-hydroxylase (dopamine beta-monooxygenase) 2001-06-22 2016-03-15 2023-01-20 1621 ENSG00000123454 OTTHUMG00000020878 uc004cel.4 X13256 NM_000787 CCDS6977 P09172 MGI:94864 RGD:2489 BIOMBD|http://www.biopku.org/home/biomdb.asp 609312 121022 objectId:2486 1.14.17.1 HGNC:2689 "ENST00000393056.8|NM_000787.4" HGNC:2689 HGNC:24155 DBH-AS1 DBH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.2 09q34.2 BPR NCRNA00118 "non-protein coding RNA 118|DBH antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-09-12 2011-08-11 2012-08-15 2015-11-04 138948 ENSG00000225756 OTTHUMG00000020877 uc031tfk.3 AF129263 NR_002783 "10686491|26393879" DBH-AS1 HGNC:24155 -HGNC:2690 DBI diazepam binding inhibitor, acyl-CoA binding protein protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "ACBP|ACBD1" endozepine diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) 1988-06-09 2016-05-27 2023-01-20 1622 ENSG00000155368 OTTHUMG00000131403 uc002tlx.5 L76366 NM_020548 "CCDS54391|CCDS54390|CCDS42741|CCDS74568|CCDS42740|CCDS2126" P07108 1440058 MGI:94865 RGD:2490 125950 HGNC:2690 "ENST00000355857.8|NM_001079862.4" +HGNC:2690 DBI diazepam binding inhibitor, acyl-CoA binding protein protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "ACBP|ACBD1" endozepine diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) 1988-06-09 2016-05-27 2023-01-20 1622 ENSG00000155368 OTTHUMG00000131403 uc002tlx.5 L76366 NM_020548 "CCDS42740|CCDS54390|CCDS54391|CCDS2126|CCDS42741|CCDS74568" P07108 1440058 MGI:94865 RGD:2490 125950 HGNC:2690 "ENST00000355857.8|NM_001079862.4" HGNC:38519 DBIL5P diazepam binding inhibitor-like 5, pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 ELP2P endozepine-like peptide 2 pseudogene 2010-12-02 2020-08-13 100131454 ENSG00000231784 OTTHUMG00000132485 NR_024120 MGI:108039 HGNC:38519 HGNC:38518 DBIL5P2 diazepam binding inhibitor-like 5 pseudogene 2 pseudogene pseudogene Approved 2p15 02p15 ELP1P endozepine-like peptide 1 pseudogene 2010-12-02 2010-12-02 100169989 ENSG00000242412 OTTHUMG00000152565 NG_008463 PGOHUM00000240066 HGNC:38518 HGNC:2692 DBIP1 DBI pseudogene 1 pseudogene pseudogene Approved 6q14.1 06q14.1 DBIL2 "diazepam binding inhibitor-like 2 (pseudogene)|diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 1|diazepam binding inhibitor, acyl-CoA binding protein pseudogene 1" 1991-07-24 2010-05-28 2019-01-21 2019-01-21 1624 ENSG00000218748 OTTHUMG00000015077 NG_001112 7789980 PGOHUM00000243260 HGNC:2692 HGNC:2691 DBIP2 DBI pseudogene 2 pseudogene pseudogene Approved 5q14.1 05q14.1 DBIL1 "diazepam binding inhibitor-like 1|diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 2|diazepam binding inhibitor, acyl-CoA binding protein pseudogene 2" 1991-07-24 2010-05-28 2019-01-21 2019-01-21 1623 ENSG00000251366 OTTHUMG00000162653 NG_003024 PGOHUM00000235295 HGNC:2691 HGNC:38517 DBIP3 DBI pseudogene 3 pseudogene pseudogene Approved 16p13.3 16p13.3 "diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 3|diazepam binding inhibitor, acyl-CoA binding protein pseudogene 3" 2010-10-19 2019-01-21 2019-01-21 791082 NG_005846 PGOHUM00000248973 HGNC:38517 -HGNC:2695 DBN1 drebrin 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 D0S117E 1993-09-08 2023-01-20 1627 ENSG00000113758 OTTHUMG00000130856 uc003mgy.3 NM_080881 "CCDS4421|CCDS87354|CCDS4420" Q16643 8216329 MGI:1931838 RGD:70885 126660 HGNC:2695 "ENST00000393565.6|NM_001363541.2" -HGNC:28455 DBNDD1 dysbindin domain containing 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "MGC3101|FLJ12582" dysbindin (dystrobrevin binding protein 1) domain containing 1 2006-04-04 2016-06-10 2023-01-20 79007 ENSG00000003249 OTTHUMG00000138984 uc002fqf.3 AK090696 NM_024043 "CCDS10991|CCDS42223|CCDS73931" Q9H9R9 12477932 MGI:1919435 RGD:1310008 620388 HGNC:28455 "ENST00000002501.11|NM_001042610.3" -HGNC:15881 DBNDD2 dysbindin domain containing 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 HSMNP1 C20orf35 "chromosome 20 open reading frame 35|dysbindin (dystrobrevin binding protein 1) domain containing 2" 2001-06-21 2006-04-04 2016-04-05 2023-01-20 55861 ENSG00000244274 OTTHUMG00000032576 uc002xnz.4 AF220191 NM_018478 "CCDS42880|CCDS56193|CCDS42881" Q9BQY9 16618118 MGI:106562 RGD:1559521 611453 HGNC:15881 "ENST00000372710.5|NM_001048225.4" -HGNC:2696 DBNL drebrin like protein-coding gene gene with protein product Approved 7p13 07p13 "SH3P7|HIP-55|ABP1" "actin-binding protein 1|HPK1-interacting protein of 55 kDa" drebrin-like MicroRNA protein coding host genes 1691 1999-09-16 2016-02-03 2023-01-20 28988 ENSG00000136279 OTTHUMG00000155350 uc003tjq.5 AF151364 NM_014063 "CCDS34623|CCDS34622|CCDS64633|CCDS64634|CCDS47579" Q9UJU6 10087302 MGI:700006 RGD:70941 610106 HGNC:2696 "ENST00000448521.6|NM_001014436.3" +HGNC:2695 DBN1 drebrin 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 D0S117E 1993-09-08 2023-01-20 1627 ENSG00000113758 OTTHUMG00000130856 uc003mgy.3 NM_080881 "CCDS4420|CCDS87354|CCDS4421" Q16643 8216329 MGI:1931838 RGD:70885 126660 HGNC:2695 "ENST00000393565.6|NM_001363541.2" +HGNC:28455 DBNDD1 dysbindin domain containing 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "MGC3101|FLJ12582" dysbindin (dystrobrevin binding protein 1) domain containing 1 2006-04-04 2016-06-10 2023-01-20 79007 ENSG00000003249 OTTHUMG00000138984 uc002fqf.3 AK090696 NM_024043 "CCDS10991|CCDS73931|CCDS42223" Q9H9R9 12477932 MGI:1919435 RGD:1310008 620388 HGNC:28455 "ENST00000002501.11|NM_001042610.3" +HGNC:15881 DBNDD2 dysbindin domain containing 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 HSMNP1 C20orf35 "chromosome 20 open reading frame 35|dysbindin (dystrobrevin binding protein 1) domain containing 2" 2001-06-21 2006-04-04 2016-04-05 2023-01-20 55861 ENSG00000244274 OTTHUMG00000032576 uc002xnz.4 AF220191 NM_018478 "CCDS56193|CCDS42880|CCDS42881" Q9BQY9 16618118 MGI:106562 RGD:1559521 611453 HGNC:15881 "ENST00000372710.5|NM_001048225.4" +HGNC:2696 DBNL drebrin like protein-coding gene gene with protein product Approved 7p13 07p13 "SH3P7|HIP-55|ABP1" "actin-binding protein 1|HPK1-interacting protein of 55 kDa" drebrin-like MicroRNA protein coding host genes 1691 1999-09-16 2016-02-03 2023-01-20 28988 ENSG00000136279 OTTHUMG00000155350 uc003tjq.5 AF151364 NM_014063 "CCDS64634|CCDS34622|CCDS34623|CCDS47579|CCDS64633" Q9UJU6 10087302 MGI:700006 RGD:70941 610106 HGNC:2696 "ENST00000448521.6|NM_001014436.3" HGNC:2697 DBP D-box binding PAR bZIP transcription factor protein-coding gene gene with protein product Approved 19q13.33 19q13.33 DABP D site of albumin promoter (albumin D-box) binding protein PAR bZIP family 1248 1991-11-27 2016-04-27 2023-01-20 1628 ENSG00000105516 OTTHUMG00000183319 uc002pjx.5 U06936 NM_001352 CCDS12728 Q10586 "1535333|7835883" MGI:94866 RGD:2491 124097 HGNC:2697 "ENST00000222122.10|NM_001352.5" HGNC:15594 DBR1 debranching RNA lariats 1 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "debranching enzyme (S. Cerevisiae) homolog 1|debranching enzyme homolog 1 (S. cerevisiae)" 2001-04-26 2013-05-01 2023-01-20 51163 ENSG00000138231 OTTHUMG00000159824 uc003erv.4 AF180919 NM_016216 CCDS33863 Q9UK59 "10982890|29474921" MGI:1931520 RGD:1598038 607024 HGNC:15594 "ENST00000260803.9|NM_016216.4" HGNC:15594 HGNC:2698 DBT dihydrolipoamide branched chain transacylase E2 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "BCOADC-E2|BCKAD-E2|BCKDH-E2" "dihydrolipoyllysine-residue (2-methylpropanoyl)transferase|lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial|branched chain 2-oxo-acid dehydrogenase complex component E2" dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) 1989-06-30 2004-11-15 2023-01-20 1629 ENSG00000137992 OTTHUMG00000010921 uc001dta.4 BC016675 NM_001918 "CCDS767|CCDS91012" P11182 "1420314|1429740" MGI:105386 RGD:68403 248610 121025 2.3.1.168 HGNC:2698 "ENST00000370132.8|NM_001918.5" HGNC:2698 HGNC:56480 DBTP1 DBT pseudogene 1 pseudogene pseudogene Approved 3q13.31 03q13.31 2022-10-20 2022-10-20 127379690 ENSG00000239280 PGOHUM00000299137 HGNC:33185 DBX1 developing brain homeobox 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 NKL subclass homeoboxes and pseudogenes 519 2007-03-14 2023-01-20 120237 ENSG00000109851 OTTHUMG00000166043 uc021qey.2 NM_001029865 CCDS31443 A6NMT0 11239429 MGI:94867 RGD:1308896 619830 8355 HGNC:33185 "ENST00000524983.3|NM_001029865.4" HGNC:33185 HGNC:33186 DBX2 developing brain homeobox 2 protein-coding gene gene with protein product Approved 12q12 12q12 FLJ16139 NKL subclass homeoboxes and pseudogenes 519 2007-03-14 2023-01-20 440097 ENSG00000185610 OTTHUMG00000169559 uc001rok.2 NM_001004329 CCDS31781 Q6ZNG2 11239429 MGI:107445 RGD:1359605 8356 HGNC:33186 "ENST00000332700.6|NM_001004329.3" -HGNC:55479 DBX2-AS1 DBX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q12 12q12 Antisense RNAs 1987 2021-03-11 2021-03-11 120766145 ENSG00000257319 -HGNC:30911 DCAF1 DDB1 and CUL4 associated factor 1 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "KIAA0800|MGC102804" VPRBP Vpr (HIV-1) binding protein "DDB1 and CUL4 associated factors|Armadillo like helical domain containing" "498|1492" 2006-01-09 2016-06-06 2016-06-06 2023-01-20 9730 ENSG00000145041 OTTHUMG00000156895 uc062kgs.1 AB018343 NM_014703 "CCDS74943|CCDS74944" Q9Y4B6 "8195203|11223251" MGI:2445220 RGD:1305176 617259 HGNC:30911 "ENST00000684031.1|NM_001387579.1" -HGNC:20229 DCAF4 DDB1 and CUL4 associated factor 4 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 DKFZp434K114 "WDR21|WDR21A" "WD repeat domain 21|WD repeat domain 21A" "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-01-15 2009-07-17 2009-07-17 2023-01-20 26094 ENSG00000119599 OTTHUMG00000160542 uc001xng.4 BC018979 NM_015604 "CCDS9809|CCDS55926|CCDS41968|CCDS9810" Q8WV16 16949367 MGI:1921078 RGD:1306241 616372 HGNC:20229 "ENST00000358377.7|NM_015604.4" +HGNC:55479 DBX2-AS1 DBX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q12 12q12 Antisense RNAs 1987 2021-03-11 2021-03-11 120766145 ENSG00000257319 NR_186005 +HGNC:30911 DCAF1 DDB1 and CUL4 associated factor 1 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "KIAA0800|MGC102804" VPRBP Vpr (HIV-1) binding protein "DDB1 and CUL4 associated factors|Armadillo like helical domain containing" "498|1492" 2006-01-09 2016-06-06 2016-06-06 2023-01-20 9730 ENSG00000145041 OTTHUMG00000156895 uc062kgs.1 AB018343 NM_014703 "CCDS74944|CCDS74943" Q9Y4B6 "8195203|11223251" MGI:2445220 RGD:1305176 617259 HGNC:30911 "ENST00000684031.1|NM_001387579.1" +HGNC:20229 DCAF4 DDB1 and CUL4 associated factor 4 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 DKFZp434K114 "WDR21|WDR21A" "WD repeat domain 21|WD repeat domain 21A" "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-01-15 2009-07-17 2009-07-17 2023-01-20 26094 ENSG00000119599 OTTHUMG00000160542 uc001xng.4 BC018979 NM_015604 "CCDS41968|CCDS9809|CCDS55926|CCDS9810" Q8WV16 16949367 MGI:1921078 RGD:1306241 616372 HGNC:20229 "ENST00000358377.7|NM_015604.4" HGNC:27723 DCAF4L1 DDB1 and CUL4 associated factor 4 like 1 protein-coding gene gene with protein product Approved 4p13 04p13 WDR21B WD repeat domain 21B WD repeat domain containing 362 2005-04-08 2009-07-17 2016-06-30 2023-01-20 285429 ENSG00000182308 OTTHUMG00000160527 uc003gwk.2 BC035027 NM_001029955 CCDS33978 Q3SXM0 MGI:1921078 HGNC:27723 "ENST00000333141.7|NM_001029955.4" HGNC:26657 DCAF4L2 DDB1 and CUL4 associated factor 4 like 2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 WDR21C WD repeat domain 21C WD repeat domain containing 362 2005-04-21 2009-07-17 2016-06-30 2023-01-20 138009 ENSG00000176566 OTTHUMG00000163767 uc003ydz.3 AL833507 NM_152418 CCDS6245 Q8NA75 14702039 MGI:1921078 HGNC:26657 "ENST00000319675.5|NM_152418.4" -HGNC:20224 DCAF5 DDB1 and CUL4 associated factor 5 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "BCRP2|D14S1461E|BCRG2|KIAA1824" WDR22 WD repeat domain 22 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-01-15 2009-07-17 2009-07-17 2023-01-20 8816 ENSG00000139990 OTTHUMG00000171699 uc001xkp.4 AB058727 NM_003861 "CCDS73646|CCDS32106|CCDS61480|CCDS61481" Q96JK2 "9740667|9521877|16949367" MGI:2444785 RGD:1306535 603812 HGNC:20224 "ENST00000341516.10|NM_003861.3" -HGNC:30002 DCAF6 DDB1 and CUL4 associated factor 6 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 PC326 IQWD1 IQ motif and WD repeats 1 "WD repeat domain containing|DDB1 and CUL4 associated factors|MicroRNA protein coding host genes" "362|498|1691" 2004-09-01 2009-07-17 2009-07-17 2023-01-20 55827 ENSG00000143164 OTTHUMG00000034572 uc001gev.5 AL136738 NM_018442 "CCDS1267|CCDS30933|CCDS55658|CCDS55657" Q58WW2 "12032826|16949367" MGI:1921356 RGD:1561961 610494 HGNC:30002 "ENST00000367840.4|NM_001198956.2" +HGNC:20224 DCAF5 DDB1 and CUL4 associated factor 5 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "BCRP2|D14S1461E|BCRG2|KIAA1824" WDR22 WD repeat domain 22 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-01-15 2009-07-17 2009-07-17 2023-01-20 8816 ENSG00000139990 OTTHUMG00000171699 uc001xkp.4 AB058727 NM_003861 "CCDS61481|CCDS32106|CCDS73646|CCDS61480" Q96JK2 "9740667|9521877|16949367" MGI:2444785 RGD:1306535 603812 HGNC:20224 "ENST00000341516.10|NM_003861.3" +HGNC:30002 DCAF6 DDB1 and CUL4 associated factor 6 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 PC326 IQWD1 IQ motif and WD repeats 1 "WD repeat domain containing|DDB1 and CUL4 associated factors|MicroRNA protein coding host genes" "362|498|1691" 2004-09-01 2009-07-17 2009-07-17 2023-01-20 55827 ENSG00000143164 OTTHUMG00000034572 uc001gev.5 AL136738 NM_018442 "CCDS1267|CCDS55658|CCDS30933|CCDS55657" Q58WW2 "12032826|16949367" MGI:1921356 RGD:1561961 610494 HGNC:30002 "ENST00000367840.4|NM_001198956.2" HGNC:30915 DCAF7 DDB1 and CUL4 associated factor 7 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "HAN11|SWAN-1" "seven-WD-repeat protein of the AN11 family-1|human anthocyanin" WDR68 WD repeat domain 68 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2005-05-26 2009-07-17 2009-07-17 2023-01-20 10238 ENSG00000136485 OTTHUMG00000178902 uc021ubm.4 U94747 NM_005828 CCDS74127 P61962 "9192870|20940704|16949367" MGI:1919083 RGD:1305140 605973 HGNC:30915 "ENST00000614556.5|NM_005828.5" HGNC:24891 DCAF8 DDB1 and CUL4 associated factor 8 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "H326|FLJ35857" WDR42A WD repeat domain 42A "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2004-09-01 2009-07-17 2009-07-17 2023-01-20 50717 ENSG00000132716 OTTHUMG00000031604 uc010pjb.2 AK093176 NM_015726 CCDS1200 Q5TAQ9 "11401431|16949367" MGI:91860 RGD:1308513 615820 404167 HGNC:24891 "ENST00000368074.6|NM_015726.4" HGNC:24891 HGNC:55792 DCAF8-DT DCAF8 divergent transcript non-coding RNA RNA, long non-coding Approved 1q23.2 01q23.2 Divergent transcripts 1990 2021-07-28 2021-07-28 100287049 ENSG00000228606 NR_147618 HGNC:31810 DCAF8L1 DDB1 and CUL4 associated factor 8 like 1 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 WDR42B WD repeat domain 42B WD repeat domain containing 362 2004-09-01 2009-07-17 2016-06-30 2023-01-20 139425 ENSG00000226372 OTTHUMG00000021312 uc004dbx.2 NM_001017930 CCDS35222 A6NGE4 MGI:101758 RGD:1584985 HGNC:31810 "ENST00000441525.4|NM_001017930.2" HGNC:31811 DCAF8L2 DDB1 and CUL4 associated factor 8 like 2 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 WDR42C WD repeat domain 42C WD repeat domain containing 362 2004-09-01 2009-07-17 2016-06-30 2023-01-20 347442 ENSG00000189186 OTTHUMG00000021305 uc064ykq.1 NM_001353448 CCDS59162 P0C7V8 MGI:101758 HGNC:31811 "ENST00000451261.7|NM_001353450.2" -HGNC:23686 DCAF10 DDB1 and CUL4 associated factor 10 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "MGC10765|FLJ23201" WDR32 WD repeat domain 32 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2005-01-18 2009-07-17 2009-07-17 2023-01-20 79269 ENSG00000122741 OTTHUMG00000019934 uc004aao.5 BC003520 NM_024345 "CCDS6613|CCDS75835" Q5QP82 16949367 MGI:2140179 RGD:1304730 620295 HGNC:23686 "ENST00000377724.8|NM_024345.5" -HGNC:20258 DCAF11 DDB1 and CUL4 associated factor 11 protein-coding gene gene with protein product Approved 14q12 14q12 "PRO2389|GL014" WDR23 WD repeat domain 23 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-01-15 2009-07-17 2009-07-17 2023-01-20 80344 ENSG00000100897 OTTHUMG00000028793 uc001wlw.4 AF130070 NM_001163484 "CCDS9610|CCDS41929" Q8TEB1 16949367 MGI:90168 RGD:1311288 613317 HGNC:20258 "ENST00000446197.8|NM_025230.5" +HGNC:23686 DCAF10 DDB1 and CUL4 associated factor 10 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "MGC10765|FLJ23201" WDR32 WD repeat domain 32 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2005-01-18 2009-07-17 2009-07-17 2023-01-20 79269 ENSG00000122741 OTTHUMG00000019934 uc004aao.5 BC003520 NM_024345 "CCDS75835|CCDS6613" Q5QP82 16949367 MGI:2140179 RGD:1304730 620295 HGNC:23686 "ENST00000377724.8|NM_024345.5" +HGNC:20258 DCAF11 DDB1 and CUL4 associated factor 11 protein-coding gene gene with protein product Approved 14q12 14q12 "PRO2389|GL014" WDR23 WD repeat domain 23 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-01-15 2009-07-17 2009-07-17 2023-01-20 80344 ENSG00000100897 OTTHUMG00000028793 uc001wlw.4 AF130070 NM_001163484 "CCDS41929|CCDS9610" Q8TEB1 16949367 MGI:90168 RGD:1311288 613317 HGNC:20258 "ENST00000446197.8|NM_025230.5" HGNC:19911 DCAF12 DDB1 and CUL4 associated factor 12 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "DKFZP434O125|MGC1058|CT102|TCC52" cancer/testis antigen 102 "KIAA1892|WDR40A" "KIAA1892|WD repeat domain 40A" "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-11-21 2009-07-17 2009-07-17 2023-01-20 25853 ENSG00000198876 OTTHUMG00000019806 uc003ztt.3 AB067479 NM_015397 CCDS6549 Q5T6F0 "11572484|9110174|16949367" MGI:1916220 RGD:1594034 620087 HGNC:19911 "ENST00000361264.9|NM_015397.4" HGNC:29395 DCAF12L1 DDB1 and CUL4 associated factor 12 like 1 protein-coding gene gene with protein product Approved Xq25 Xq25 KIAA1892L WDR40B WD repeat domain 40B WD repeat domain containing 362 2004-06-03 2009-07-17 2016-06-30 2023-01-20 139170 ENSG00000198889 OTTHUMG00000022353 uc004eul.4 BC035674 NM_178470 CCDS14610 Q5VU92 12477932 MGI:2444462 RGD:1563873 HGNC:29395 "ENST00000371126.3|NM_178470.5" HGNC:32950 DCAF12L2 DDB1 and CUL4 associated factor 12 like 2 protein-coding gene gene with protein product Approved Xq25 Xq25 WDR40C WD repeat domain 40C WD repeat domain containing 362 2006-07-06 2009-07-17 2016-06-30 2023-01-20 340578 ENSG00000198354 OTTHUMG00000022348 uc004euk.3 AL445072 NM_001013628 CCDS43991 Q5VW00 MGI:2445178 RGD:1560768 HGNC:32950 "ENST00000360028.4|NM_001013628.3" @@ -6223,43 +6224,43 @@ HGNC:25987 DCAF16 DDB1 and CUL4 associated factor 16 protein-coding gene gene wi HGNC:25784 DCAF17 DDB1 and CUL4 associated factor 17 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 FLJ13096 Woodhouse-Sakati syndrome C2orf37 chromosome 2 open reading frame 37 DDB1 and CUL4 associated factors 498 2006-03-24 2009-07-17 2009-07-17 2023-01-20 80067 ENSG00000115827 OTTHUMG00000132259 uc002ugx.3 AK023158 NM_025000 "CCDS2243|CCDS54419" Q5H9S7 16949367 MGI:1923013 RGD:1565551 612515 171038 HGNC:25784 "ENST00000375255.8|NM_025000.4" HGNC:25784 HGNC:26238 DCAKD dephospho-CoA kinase domain containing protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ22955 2005-12-20 2023-01-20 79877 ENSG00000172992 OTTHUMG00000179947 uc032fjr.2 BC006546 NM_024819 CCDS11493 Q8WVC6 MGI:1915337 RGD:1359211 HGNC:26238 "ENST00000651974.1|NM_001288655.2" HGNC:24459 DCANP1 dendritic cell associated nuclear protein 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 DCNP1 dendritic cell nuclear protein 1 C5orf20 "chromosome 5 open reading frame 20|dendritic cell associated nuclear protein" 2005-06-09 2014-08-15 2022-07-20 2023-01-20 140947 ENSG00000251380 OTTHUMG00000163308 BF358185 NM_130848 CCDS4186 Q8TF63 "10737800|11798177|20693543" 609710 HGNC:24459 "ENST00000503143.3|NM_130848.3" -HGNC:21479 DCBLD1 discoidin, CUB and LCCL domain containing 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "MGC46341|dJ94G16.1" 2003-06-17 2023-01-20 285761 ENSG00000164465 OTTHUMG00000015455 uc003pxs.4 AK055462 NM_173674 "CCDS93995|CCDS34522" Q8N8Z6 MGI:1913936 RGD:1307211 HGNC:21479 "ENST00000338728.10|NM_001366458.2" +HGNC:21479 DCBLD1 discoidin, CUB and LCCL domain containing 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "MGC46341|dJ94G16.1" 2003-06-17 2023-01-20 285761 ENSG00000164465 OTTHUMG00000015455 uc003pxs.4 AK055462 NM_173674 "CCDS34522|CCDS93995" Q8N8Z6 MGI:1913936 RGD:1307211 HGNC:21479 "ENST00000338728.10|NM_001366458.2" HGNC:24627 DCBLD2 discoidin, CUB and LCCL domain containing 2 protein-coding gene gene with protein product Approved 3q12.1 03q12.1 "CLCP1|ESDN" 2004-05-25 2023-01-20 131566 ENSG00000057019 OTTHUMG00000151985 uc003dtd.4 NM_080927 CCDS46878 Q96PD2 11447234 MGI:1920629 RGD:620543 608698 HGNC:24627 "ENST00000326840.11|NM_080927.4" HGNC:2701 DCC DCC netrin 1 receptor protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "IGDCC1|NTN1R1" immunoglobulin superfamily, DCC subclass, member 1 deleted in colorectal carcinoma "Fibronectin type III domain containing|I-set domain containing|MicroRNA protein coding host genes" "555|593|1691" 1990-05-25 2014-06-20 2023-01-20 1630 ENSG00000187323 OTTHUMG00000132698 uc002lfe.3 X76132 NM_005215 CCDS11952 P43146 "2294591|24400119" MGI:94869 RGD:2492 LRG_1107|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1107.xml 120470 244810 HGNC:2701 "ENST00000442544.7|NM_005215.4" HGNC:2701 HGNC:14669 DCD dermcidin protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "AIDD|PIF|DSEP|HCAP|DCD-1" "proteolysis inducing factor|preproteolysin|diffusible survival/evasion peptide|survival promoting peptide" 2001-02-27 2023-01-20 117159 ENSG00000161634 OTTHUMG00000169937 uc001sgj.4 AF144011 NM_053283 "CCDS8884|CCDS73478" P81605 11694882 606634 HGNC:14669 "ENST00000293371.11|NM_053283.4" -HGNC:20625 DCDC1 doublecortin domain containing 1 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 FLJ46154 DCDC5 doublecortin domain containing 5 Doublecortin superfamily 1369 2003-03-14 2023-01-20 341019 ENSG00000170959 OTTHUMG00000150144 uc001msv.4 AY247970 NM_181807 "CCDS91453|CCDS91454|CCDS73270|CCDS7872" M0R2J8 12820024 RGD:1562221 608062 HGNC:20625 "ENST00000684477.1|NM_001387274.1" +HGNC:20625 DCDC1 doublecortin domain containing 1 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 FLJ46154 DCDC5 doublecortin domain containing 5 Doublecortin superfamily 1369 2003-03-14 2023-01-20 341019 ENSG00000170959 OTTHUMG00000150144 uc001msv.4 AY247970 NM_181807 "CCDS91454|CCDS91453|CCDS7872|CCDS73270" M0R2J8 12820024 RGD:1562221 608062 HGNC:20625 "ENST00000684477.1|NM_001387274.1" HGNC:18141 DCDC2 doublecortin domain containing 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "RU2|KIAA1154|DCDC2A|NPHP19" nephronophthisis 19 DFNB66 deafness, autosomal recessive 66 Doublecortin superfamily 1369 2003-05-20 2023-01-20 51473 ENSG00000146038 OTTHUMG00000016275 uc003ndx.4 AB032980 NM_016356 CCDS4550 Q9UHG0 "10601354|10574461|25557784|25601850" MGI:2652818 RGD:1310227 605755 434377 HGNC:18141 "ENST00000378454.8|NM_016356.5" HGNC:18141 HGNC:32576 DCDC2B doublecortin domain containing 2B protein-coding gene gene with protein product Approved 1p35.2 01p35.2 Doublecortin superfamily 1369 2006-04-21 2023-01-20 149069 ENSG00000222046 OTTHUMG00000005741 uc001bun.2 BC128073 NM_001099434 CCDS44100 A2VCK2 MGI:2686212 RGD:1583476 HGNC:32576 "ENST00000409358.2|NM_001099434.2" HGNC:32696 DCDC2C doublecortin domain containing 2C protein-coding gene gene with protein product Approved 2p25.3 02p25.3 doublecortin domain containing 2C pseudogene Doublecortin superfamily 1369 2006-04-21 2010-09-24 2023-01-20 728597 ENSG00000214866 OTTHUMG00000151490 uc032nde.2 AC010907 NM_001287444 CCDS74481 A8MYV0 MGI:1915761 RGD:1559651 HGNC:32696 "ENST00000399143.9|NM_001287444.2" HGNC:13681 DCHS1 dachsous cadherin-related 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FIB1|KIAA1773|FLJ11790|CDHR6" cadherin-related family member 6 "CDH25|PCDH16" "protocadherin 16|dachsous 1 (Drosophila)" Cadherin related 24 2000-09-28 2004-09-03 2013-10-04 2023-01-20 8642 ENSG00000166341 OTTHUMG00000133398 uc001mem.3 AB000895 NM_003737 CCDS7771 Q96JQ0 9199196 MGI:2685011 RGD:1309878 603057 371941 HGNC:13681 "ENST00000299441.5|NM_003737.4" HGNC:13681 HGNC:40650 DCHS1-AS1 DCHS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2020-09-16 2020-09-16 118597837 ENSG00000255390 OTTHUMG00000165533 -HGNC:23111 DCHS2 dachsous cadherin-related 2 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "CDHJ|FLJ20047|PCDHJ|CDHR7" cadherin-related family member 7 "CDH27|PCDH23" "cadherin-like 27|dachsous 2 (Drosophila)" Cadherin related 24 2003-09-11 2004-09-03 2013-10-04 2023-03-15 54798 ENSG00000197410 OTTHUMG00000161556 uc003inw.2 BC140919 NM_001142552 "CCDS87275|CCDS47150" Q6V1P9 15003449 MGI:2685263 RGD:1563329 612486 470172 HGNC:23111 "ENST00000357232.10|NM_001358235.2" +HGNC:23111 DCHS2 dachsous cadherin-related 2 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "CDHJ|FLJ20047|PCDHJ|CDHR7" cadherin-related family member 7 "CDH27|PCDH23" "cadherin-like 27|dachsous 2 (Drosophila)" Cadherin related 24 2003-09-11 2004-09-03 2013-10-04 2023-03-15 54798 ENSG00000197410 OTTHUMG00000161556 uc003inw.2 BC140919 NM_001142552 "CCDS47150|CCDS87275" Q6V1P9 15003449 MGI:2685263 RGD:1563329 612486 470172 HGNC:23111 "ENST00000357232.10|NM_001358235.2" HGNC:2704 DCK deoxycytidine kinase protein-coding gene gene with protein product Approved 4q13.3 04q13.3 Deoxyribonucleoside kinases 1699 1991-08-08 2023-01-20 1633 ENSG00000156136 OTTHUMG00000129908 uc003hfx.4 M60527 NM_000788 CCDS3548 P27707 8406512 MGI:102726 RGD:620667 125450 2.7.1.74 HGNC:2704 "ENST00000286648.10|NM_000788.3" HGNC:2700 DCLK1 doublecortin like kinase 1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "KIAA0369|DCLK|DCDC3A" DCAMKL1 "doublecortin and CaM kinase-like 1|doublecortin-like kinase 1" Doublecortin superfamily 1369 1999-02-22 2007-04-02 2015-11-30 2023-01-20 9201 ENSG00000133083 OTTHUMG00000016729 uc001uvf.4 AB002367 NM_004734 "CCDS73561|CCDS81762|CCDS9354|CCDS55895" O15075 "9747029|10036192" MGI:1330861 RGD:68437 604742 objectId:2005 HGNC:2700 "ENST00000360631.8|NM_001330071.2" -HGNC:19002 DCLK2 doublecortin like kinase 2 protein-coding gene gene with protein product Approved 4q31.23-q31.3 04q31.23-q31.3 "MGC45428|DCDC3|DCDC3B|DCK2" DCAMKL2 "doublecortin and CaM kinase-like 2|doublecortin-like kinase 2" Doublecortin superfamily 1369 2005-01-20 2007-04-02 2015-11-30 2023-01-20 166614 ENSG00000170390 OTTHUMG00000161444 uc003ilm.5 BC032726 NM_001040260 "CCDS47142|CCDS34076|CCDS93647" Q8N568 "23385585|26526391" MGI:1918012 RGD:1308384 613166 objectId:2006 HGNC:19002 "ENST00000296550.12|NM_001040260.4" -HGNC:19005 DCLK3 doublecortin like kinase 3 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "KIAA1765|DCDC3C" DCAMKL3 "doublecortin and CaM kinase-like 3|doublecortin-like kinase 3" Doublecortin superfamily 1369 2005-01-20 2007-04-02 2015-11-30 2023-01-20 85443 ENSG00000163673 OTTHUMG00000155805 uc003cgi.2 AB051552 NM_033403 "CCDS43064|CCDS93239" Q9C098 "11214970|16869982" MGI:3039580 RGD:1309232 613167 objectId:2007 HGNC:19005 "ENST00000636136.2|NM_001394672.2" +HGNC:19002 DCLK2 doublecortin like kinase 2 protein-coding gene gene with protein product Approved 4q31.23-q31.3 04q31.23-q31.3 "MGC45428|DCDC3|DCDC3B|DCK2" DCAMKL2 "doublecortin and CaM kinase-like 2|doublecortin-like kinase 2" Doublecortin superfamily 1369 2005-01-20 2007-04-02 2015-11-30 2023-01-20 166614 ENSG00000170390 OTTHUMG00000161444 uc003ilm.5 BC032726 NM_001040260 "CCDS34076|CCDS93647|CCDS47142" Q8N568 "23385585|26526391" MGI:1918012 RGD:1308384 613166 objectId:2006 HGNC:19002 "ENST00000296550.12|NM_001040260.4" +HGNC:19005 DCLK3 doublecortin like kinase 3 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "KIAA1765|DCDC3C" DCAMKL3 "doublecortin and CaM kinase-like 3|doublecortin-like kinase 3" Doublecortin superfamily 1369 2005-01-20 2007-04-02 2015-11-30 2023-01-20 85443 ENSG00000163673 OTTHUMG00000155805 uc003cgi.2 AB051552 NM_033403 "CCDS93239|CCDS43064" Q9C098 "11214970|16869982" MGI:3039580 RGD:1309232 613167 objectId:2007 HGNC:19005 "ENST00000636136.2|NM_001394672.2" HGNC:17660 DCLRE1A DNA cross-link repair 1A protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "SNM1|PSO2|KIAA0086|hSNM1" PSO2 homolog (S. cerevisiae) DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae) DNA cross-link repair family 2035 2002-01-18 2010-06-24 2023-01-20 9937 ENSG00000198924 OTTHUMG00000019077 uc031pxf.2 NM_014881 CCDS7584 Q6PJP8 "9806498|17804464" MGI:1930042 RGD:1306156 609682 HGNC:17660 "ENST00000361384.7|NM_014881.5" HGNC:17641 DCLRE1B DNA cross-link repair 1B protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "SNM1B|FLJ12810|FLJ13998|APOLLO" PSO2 homolog (S. cerevisiae) DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae) DNA cross-link repair family 2035 2002-01-18 2010-06-24 2023-01-20 64858 ENSG00000118655 OTTHUMG00000011937 uc001eeg.4 BC029687 NM_022836 CCDS866 Q9H816 MGI:2156057 RGD:1310343 LRG_1219|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1219.xml 609683 470174 HGNC:17641 "ENST00000650450.2|NM_022836.4" -HGNC:17642 DCLRE1C DNA cross-link repair 1C protein-coding gene gene with protein product Approved 10p13 10p13 "ARTEMIS|FLJ11360|SNM1C|A-SCID" PSO2 homolog (S. cerevisiae) SCIDA "severe combined immunodeficiency, type a (Athabascan)|DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)" DNA cross-link repair family 2035 2002-01-18 2010-06-24 2023-01-20 64421 ENSG00000152457 OTTHUMG00000017716 uc001inn.5 BC022254 NM_022487 "CCDS91218|CCDS7105|CCDS91216|CCDS31150|CCDS31149" Q96SD1 "11336668|9443881" MGI:2441769 RGD:708574 "DCLRE1Cbase: Mutation registry for Artemis deficiency|http://structure.bmc.lu.se/idbase/DCLRE1Cbase/|LRG_54|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_54.xml" 605988 121027 HGNC:17642 "ENST00000378278.7|NM_001033855.3" HGNC:17642 +HGNC:17642 DCLRE1C DNA cross-link repair 1C protein-coding gene gene with protein product Approved 10p13 10p13 "ARTEMIS|FLJ11360|SNM1C|A-SCID" PSO2 homolog (S. cerevisiae) SCIDA "severe combined immunodeficiency, type a (Athabascan)|DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)" DNA cross-link repair family 2035 2002-01-18 2010-06-24 2023-01-20 64421 ENSG00000152457 OTTHUMG00000017716 uc001inn.5 BC022254 NM_022487 "CCDS31150|CCDS91218|CCDS91216|CCDS31149|CCDS7105" Q96SD1 "11336668|9443881" MGI:2441769 RGD:708574 "DCLRE1Cbase: Mutation registry for Artemis deficiency|http://structure.bmc.lu.se/idbase/DCLRE1Cbase/|LRG_54|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_54.xml" 605988 121027 HGNC:17642 "ENST00000378278.7|NM_001033855.3" HGNC:17642 HGNC:44877 DCLRE1CP1 DNA cross-link repair 1C pseudogene 1 pseudogene pseudogene Approved 10p13 10p13 2012-12-10 2020-04-20 105376432 ENSG00000237470 OTTHUMG00000017720 NR_144469 PGOHUM00000238362 HGNC:44877 -HGNC:2705 DCN decorin protein-coding gene gene with protein product Approved 12q21.33 12q21.33 "DSPG2|SLRR1B" decorin proteoglycan Small leucine rich repeat proteoglycans 573 1989-07-18 2023-01-20 1634 ENSG00000011465 OTTHUMG00000169998 uc001tbu.4 AF138300 NM_133507 "CCDS9041|CCDS9039|CCDS44951|CCDS9040|CCDS9042" P07585 8432526 MGI:94872 RGD:61895 125255 121034 HGNC:2705 "ENST00000052754.10|NM_001920.5" HGNC:2705 -HGNC:18714 DCP1A decapping mRNA 1A protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "HSA275986|SMIF|SMAD4IP1" DCP1 decapping enzyme homolog A (S. cerevisiae) 2005-01-07 2013-05-02 2023-01-20 55802 ENSG00000272886 OTTHUMG00000158193 uc032rob.2 AJ275986 NM_018403 "CCDS74946|CCDS46847" Q9NPI6 MGI:1923151 RGD:1561298 607010 HGNC:18714 "ENST00000610213.6|NM_018403.7" +HGNC:2705 DCN decorin protein-coding gene gene with protein product Approved 12q21.33 12q21.33 "DSPG2|SLRR1B" decorin proteoglycan Small leucine rich repeat proteoglycans 573 1989-07-18 2023-01-20 1634 ENSG00000011465 OTTHUMG00000169998 uc001tbu.4 AF138300 NM_133507 "CCDS9042|CCDS9041|CCDS9039|CCDS9040|CCDS44951" P07585 8432526 MGI:94872 RGD:61895 125255 121034 HGNC:2705 "ENST00000052754.10|NM_001920.5" HGNC:2705 +HGNC:18714 DCP1A decapping mRNA 1A protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "HSA275986|SMIF|SMAD4IP1" DCP1 decapping enzyme homolog A (S. cerevisiae) 2005-01-07 2013-05-02 2023-01-20 55802 ENSG00000272886 OTTHUMG00000158193 uc032rob.2 AJ275986 NM_018403 "CCDS46847|CCDS74946" Q9NPI6 MGI:1923151 RGD:1561298 607010 HGNC:18714 "ENST00000610213.6|NM_018403.7" HGNC:24451 DCP1B decapping mRNA 1B protein-coding gene gene with protein product Approved 12p13.33 12p13.33 FLJ31638 DCP1 decapping enzyme homolog B (S. cerevisiae) 2005-01-07 2013-05-02 2023-01-20 196513 ENSG00000151065 OTTHUMG00000168113 uc001qjx.2 AY146652 NM_152640 "CCDS31727|CCDS81651" Q8IZD4 "12417715|15067023" MGI:2442404 RGD:1562214 609843 HGNC:24451 "ENST00000280665.11|NM_152640.5" HGNC:24452 DCP2 decapping mRNA 2 protein-coding gene gene with protein product Approved 5q22.2 05q22.2 NUDT20 "nudix (nucleoside diphosphate linked moiety X)-type motif 20|M(7)GpppN-mRNA hydrolase" DCP2 decapping enzyme homolog (S. cerevisiae) Nudix hydrolase family 667 2005-01-07 2013-05-02 2023-01-20 167227 ENSG00000172795 OTTHUMG00000162853 uc003kqh.4 AY135173 NM_152624 "CCDS56377|CCDS34210" Q8IU60 "12218187|12417715" MGI:1917890 RGD:1562909 609844 3.6.1.62 HGNC:24452 "ENST00000389063.3|NM_152624.6" HGNC:29812 DCPS decapping enzyme, scavenger protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "HSPC015|HINT-5|HSL1|HINT5|DCS-1|DCS1" "5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase|histidine triad nucleotide binding protein 5|m7GpppX diphosphatase" Histidine triad superfamily 1811 2005-01-07 2023-01-20 28960 ENSG00000110063 OTTHUMG00000165829 uc001qdp.3 AF077201 NM_014026 CCDS8473 Q96C86 "12198172|14523240|25712129" MGI:1916555 RGD:628887 610534 457106 3.6.1.59 HGNC:29812 "ENST00000263579.5|NM_014026.6" HGNC:29812 HGNC:2708 DCR Down syndrome chromosome region other region Approved 21q22.3 21q22.3 DSCR 1990-09-10 2007-11-16 1637 1829580 -HGNC:26539 DCST1 DC-STAMP domain containing 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ32785 Ring finger proteins 58 2005-04-25 2023-01-20 149095 ENSG00000163357 OTTHUMG00000041314 uc001fgn.3 AK057347 NM_152494 "CCDS1083|CCDS44235" Q5T197 27782195 MGI:1925022 RGD:1307756 619860 HGNC:26539 "ENST00000295542.6|NM_152494.4" HGNC:26539 +HGNC:26539 DCST1 DC-STAMP domain containing 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ32785 Ring finger proteins 58 2005-04-25 2023-01-20 149095 ENSG00000163357 OTTHUMG00000041314 uc001fgn.3 AK057347 NM_152494 "CCDS44235|CCDS1083" Q5T197 27782195 MGI:1925022 RGD:1307756 619860 HGNC:26539 "ENST00000295542.6|NM_152494.4" HGNC:26539 HGNC:41147 DCST1-AS1 DCST1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 RP11-307C12.11 Antisense RNAs 1987 2016-12-09 2019-08-08 100505666 ENSG00000232093 OTTHUMG00000041316 BU634037 NR_040772 "27835578|31364110" HGNC:41147 HGNC:26562 DCST2 DC-STAMP domain containing 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ32934 2005-05-16 2005-08-09 2023-01-20 127579 ENSG00000163354 OTTHUMG00000037371 uc001fgm.4 AK057496 NM_144622 CCDS1082 Q5T1A1 MGI:2685606 RGD:1564557 619861 HGNC:26562 "ENST00000368424.4|NM_144622.3" HGNC:18549 DCSTAMP dendrocyte expressed seven transmembrane protein protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "DC-STAMP|FIND" "Dendritic cells (DC)-specific transmembrane protein|IL-Four INDuced" TM7SF4 transmembrane 7 superfamily member 4 2004-06-25 2012-03-27 2012-03-27 2023-01-20 81501 ENSG00000164935 OTTHUMG00000164890 uc003ylx.3 AF305068 NM_030788 "CCDS6301|CCDS59111" Q9H295 "11169400|11345591" MGI:1923016 RGD:1310435 605933 HGNC:18549 "ENST00000297581.2|NM_030788.4" HGNC:2709 DCT dopachrome tautomerase protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "TRP-2|TRP2" "dopachrome delta-isomerase|L-dopachrome isomerase|L-dopachrome tautomerase" TYRP2 tyrosine-related protein 2 1993-11-04 2012-09-28 2023-01-20 1638 ENSG00000080166 OTTHUMG00000017206 uc001vlv.6 D17547 NM_001129889 "CCDS9470|CCDS45060" P40126 8306979 MGI:102563 RGD:1564975 191275 5.3.3.12 HGNC:2709 "ENST00000377028.10|NM_001922.5" HGNC:2709 -HGNC:2710 DCTD dCMP deaminase protein-coding gene gene with protein product Approved 4q35.1 04q35.1 1995-10-02 2023-01-20 1635 ENSG00000129187 OTTHUMG00000160685 uc003ivf.4 L12136 NM_001012732 "CCDS34108|CCDS3831" P32321 MGI:2444529 RGD:1359671 607638 3.5.4.12 HGNC:2710 "ENST00000438320.7|NM_001921.3" -HGNC:2711 DCTN1 dynactin subunit 1 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 p150 glued homolog (Drosophila) dynactin 1 (p150, Glued (Drosophila) homolog) Dynactin subunits 943 1995-10-03 2015-11-26 2023-01-20 1639 ENSG00000204843 OTTHUMG00000129963 uc002skw.2 NM_004082 "CCDS46342|CCDS46343|CCDS92781|CCDS46341|CCDS54369|CCDS54368|CCDS1939" Q14203 1828535 MGI:107745 RGD:62038 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_237|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_237.xml" DCTN1 601143 140067 HGNC:2711 "ENST00000628224.3|NM_004082.5" HGNC:2711 +HGNC:2710 DCTD dCMP deaminase protein-coding gene gene with protein product Approved 4q35.1 04q35.1 1995-10-02 2023-01-20 1635 ENSG00000129187 OTTHUMG00000160685 uc003ivf.4 L12136 NM_001012732 "CCDS3831|CCDS34108" P32321 MGI:2444529 RGD:1359671 607638 3.5.4.12 HGNC:2710 "ENST00000438320.7|NM_001921.3" +HGNC:2711 DCTN1 dynactin subunit 1 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 p150 glued homolog (Drosophila) dynactin 1 (p150, Glued (Drosophila) homolog) Dynactin subunits 943 1995-10-03 2015-11-26 2023-01-20 1639 ENSG00000204843 OTTHUMG00000129963 uc002skw.2 NM_004082 "CCDS54369|CCDS1939|CCDS92781|CCDS46342|CCDS46341|CCDS46343|CCDS54368" Q14203 1828535 MGI:107745 RGD:62038 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_237|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_237.xml" DCTN1 601143 140067 HGNC:2711 "ENST00000628224.3|NM_004082.5" HGNC:2711 HGNC:44151 DCTN1-AS1 DCTN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p13.1 02p13.1 DCTN1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100189589 ENSG00000237737 OTTHUMG00000152826 uc002skz.3 BC042946 NR_024463 DCTN1-AS1 HGNC:44151 -HGNC:2712 DCTN2 dynactin subunit 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "RBP50|DCTN-50" dynactin 2 (p50) Dynactin subunits 943 1995-10-03 2015-11-26 2023-01-20 10540 ENSG00000175203 OTTHUMG00000170124 uc001som.3 U50733 NM_006400 "CCDS58245|CCDS91711|CCDS44930|CCDS73489" Q13561 8647893 MGI:107733 RGD:1303182 607376 HGNC:2712 "ENST00000548249.6|NM_001261413.2" -HGNC:2713 DCTN3 dynactin subunit 3 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 DCTN-22 dynactin 3 (p22) Dynactin subunits 943 2000-09-01 2015-11-26 2023-01-20 11258 ENSG00000137100 OTTHUMG00000019830 uc003zux.3 AF082513 NM_001281425 "CCDS6561|CCDS65029|CCDS65028|CCDS6560" O75935 "9722614|11306820" MGI:1859251 RGD:1309547 607387 HGNC:2713 "ENST00000259632.12|NM_007234.5" +HGNC:2712 DCTN2 dynactin subunit 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "RBP50|DCTN-50" dynactin 2 (p50) Dynactin subunits 943 1995-10-03 2015-11-26 2023-01-20 10540 ENSG00000175203 OTTHUMG00000170124 uc001som.3 U50733 NM_006400 "CCDS73489|CCDS91711|CCDS44930|CCDS58245" Q13561 8647893 MGI:107733 RGD:1303182 607376 HGNC:2712 "ENST00000548249.6|NM_001261413.2" +HGNC:2713 DCTN3 dynactin subunit 3 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 DCTN-22 dynactin 3 (p22) Dynactin subunits 943 2000-09-01 2015-11-26 2023-01-20 11258 ENSG00000137100 OTTHUMG00000019830 uc003zux.3 AF082513 NM_001281425 "CCDS65029|CCDS6561|CCDS6560|CCDS65028" O75935 "9722614|11306820" MGI:1859251 RGD:1309547 607387 HGNC:2713 "ENST00000259632.12|NM_007234.5" HGNC:15518 DCTN4 dynactin subunit 4 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "Dyn4|p62" dynactin 4 (p62) Dynactin subunits 943 2001-04-06 2015-11-26 2023-01-20 51164 ENSG00000132912 OTTHUMG00000130079 uc003lsv.4 AF195120 NM_001135643 "CCDS4310|CCDS47311|CCDS47310" Q9UJW0 "10843801|16554302" MGI:1914915 RGD:71023 614758 308262 HGNC:15518 "ENST00000447998.7|NM_016221.4" -HGNC:24594 DCTN5 dynactin subunit 5 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "MGC3248|p25" dynactin 5 (p25) Dynactin subunits 943 2005-09-05 2015-11-26 2023-01-20 84516 ENSG00000166847 OTTHUMG00000131610 uc002dly.3 NM_032486 "CCDS58436|CCDS58435|CCDS10615" Q9BTE1 "10525537|15043994" MGI:1891689 RGD:1305654 612962 470176 HGNC:24594 "ENST00000300087.7|NM_032486.4" +HGNC:24594 DCTN5 dynactin subunit 5 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "MGC3248|p25" dynactin 5 (p25) Dynactin subunits 943 2005-09-05 2015-11-26 2023-01-20 84516 ENSG00000166847 OTTHUMG00000131610 uc002dly.3 NM_032486 "CCDS58436|CCDS10615|CCDS58435" Q9BTE1 "10525537|15043994" MGI:1891689 RGD:1305654 612962 470176 HGNC:24594 "ENST00000300087.7|NM_032486.4" HGNC:16964 DCTN6 dynactin subunit 6 protein-coding gene gene with protein product Approved 8p12 08p12 WS-3 dynactin 6 Dynactin subunits 943 2003-03-20 2015-11-26 2023-01-20 10671 ENSG00000104671 OTTHUMG00000163828 uc003xhy.4 D84145 NM_006571 CCDS6076 O00399 9168138 MGI:1343154 RGD:1307549 612963 HGNC:16964 "ENST00000221114.8|NM_006571.4" HGNC:55241 DCTN6-DT DCTN6 divergent transcript non-coding RNA RNA, long non-coding Approved 8p12 08p12 Divergent transcripts 1990 2020-09-17 2020-09-17 118597835 ENSG00000271869 HGNC:28777 DCTPP1 dCTP pyrophosphatase 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "MGC5627|RS21C6|CDA03|XTP3TPA" XTP3-transactivated protein A 2008-12-18 2023-01-20 79077 ENSG00000179958 OTTHUMG00000132416 uc002dyf.4 BC001344 NM_024096 CCDS10680 Q9H773 15740738 MGI:1913672 RGD:620933 615840 3.6.1.12 HGNC:28777 "ENST00000319285.5|NM_024096.2" @@ -6267,19 +6268,19 @@ HGNC:18184 DCUN1D1 defective in cullin neddylation 1 domain containing 1 protein HGNC:20328 DCUN1D2 defective in cullin neddylation 1 domain containing 2 protein-coding gene gene with protein product Approved 13q34 13q34 "FLJ10704|FLJ20092" C13orf17 "chromosome 13 open reading frame 17|DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)" 2003-01-29 2005-10-04 2016-01-13 2023-01-20 55208 ENSG00000150401 OTTHUMG00000017390 uc001vtr.2 AK001566 NM_018185 CCDS32013 Q6PH85 15988528 MGI:2142792 RGD:1582994 HGNC:20328 "ENST00000478244.6|NM_001014283.2" HGNC:39889 DCUN1D2-AS DCUN1D2 antisense RNA non-coding RNA RNA, long non-coding Approved 13q34 13q34 DCUN1D2-AS2 DCUN1D2 antisense RNA 2 Antisense RNAs 1987 2011-04-08 2013-02-18 2013-02-18 2014-11-19 100874229 ENSG00000233613 OTTHUMG00000017391 uc058ynf.1 AI203167 DCUN1D2-AS HGNC:28734 DCUN1D3 defective in cullin neddylation 1 domain containing 3 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "MGC48972|FLJ41725|DKFZp686O0290|SCCRO3" DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) 2005-10-04 2016-01-13 2023-01-20 123879 ENSG00000188215 OTTHUMG00000131553 uc002dhz.4 BC040442 NM_173475 CCDS10592 Q8IWE4 15988528 MGI:2679003 RGD:1308893 616167 HGNC:28734 "ENST00000324344.9|NM_173475.4" -HGNC:28998 DCUN1D4 defective in cullin neddylation 1 domain containing 4 protein-coding gene gene with protein product Approved 4q12 04q12 KIAA0276 DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) 2005-07-11 2016-01-13 2023-01-20 23142 ENSG00000109184 OTTHUMG00000128700 uc003gze.5 D87466 NM_015115 "CCDS75123|CCDS33982|CCDS3487" Q92564 15988528 MGI:2140972 RGD:1310422 612977 HGNC:28998 "ENST00000334635.10|NM_001040402.3" +HGNC:28998 DCUN1D4 defective in cullin neddylation 1 domain containing 4 protein-coding gene gene with protein product Approved 4q12 04q12 KIAA0276 DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) 2005-07-11 2016-01-13 2023-01-20 23142 ENSG00000109184 OTTHUMG00000128700 uc003gze.5 D87466 NM_015115 "CCDS3487|CCDS75123|CCDS33982" Q92564 15988528 MGI:2140972 RGD:1310422 612977 HGNC:28998 "ENST00000334635.10|NM_001040402.3" HGNC:28409 DCUN1D5 defective in cullin neddylation 1 domain containing 5 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "MGC2714|FLJ32431" DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) 2005-10-04 2016-01-13 2023-01-20 84259 ENSG00000137692 OTTHUMG00000165822 uc001phm.4 NM_032299 CCDS8325 Q9BTE7 15988528 MGI:1924113 RGD:1307008 616522 HGNC:28409 "ENST00000260247.10|NM_032299.4" -HGNC:2714 DCX doublecortin protein-coding gene gene with protein product Approved Xq23 Xq23 "SCLH|DC|LISX|DBCN|XLIS" doublecortex doublecortex; lissencephaly, X-linked (doublecortin) Doublecortin superfamily 1369 1998-03-24 2008-08-01 2023-03-15 1641 ENSG00000077279 OTTHUMG00000022204 uc065asg.1 AF040254 NM_178153 "CCDS94652|CCDS14558|CCDS94653|CCDS94654|CCDS83483|CCDS14557" O43602 "9489699|9489700" MGI:1277171 RGD:620670 300121 121038 HGNC:2714 "ENST00000636035.2|NM_001195553.2" HGNC:2714 +HGNC:2714 DCX doublecortin protein-coding gene gene with protein product Approved Xq23 Xq23 "SCLH|DC|LISX|DBCN|XLIS" doublecortex doublecortex; lissencephaly, X-linked (doublecortin) Doublecortin superfamily 1369 1998-03-24 2008-08-01 2023-03-15 1641 ENSG00000077279 OTTHUMG00000022204 uc065asg.1 AF040254 NM_178153 "CCDS94653|CCDS14557|CCDS94654|CCDS94652|CCDS83483|CCDS14558" O43602 "9489699|9489700" MGI:1277171 RGD:620670 300121 121038 HGNC:2714 "ENST00000636035.2|NM_001195553.2" HGNC:2714 HGNC:18985 DCXR dicarbonyl and L-xylulose reductase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIDCR|DCR|SDR20C1|HCR2|P34H" "short chain dehydrogenase/reductase family 20C, member 1|human carbonyl reductase 2|sperm surface protein P34H|kidney dicarbonyl reductase" dicarbonyl/L-xylulose reductase Short chain dehydrogenase/reductase superfamily 743 2002-07-25 2016-06-21 2023-01-20 51181 ENSG00000169738 OTTHUMG00000178483 uc002kdg.4 AB013846 NM_001195218 CCDS11799 Q7Z4W1 "11882650|19027726" MGI:1915130 RGD:620031 608347 274023 1.1.1.10 HGNC:18985 "ENST00000306869.7|NM_016286.4" HGNC:18985 HGNC:54083 DCXR-DT DCXR divergent transcript non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 RP13-650J16.1 Divergent transcripts 1990 2018-10-10 2020-10-21 113523640 ENSG00000264569 NR_159947 30279207 HGNC:54083 HGNC:28360 DDA1 DET1 and DDB1 associated 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "PCIA1|MGC2594" C19orf58 chromosome 19 open reading frame 58 2006-08-22 2007-10-25 2007-10-25 2023-01-20 79016 ENSG00000130311 OTTHUMG00000182765 uc002ngd.4 BC000615 NM_024050 CCDS12357 Q9BW61 17452440 MGI:1913748 RGD:1584153 HGNC:28360 "ENST00000359866.9|NM_024050.6" -HGNC:2715 DDAH1 dimethylarginine dimethylaminohydrolase 1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 DDAH 1999-10-22 2023-01-20 23576 ENSG00000153904 OTTHUMG00000191181 uc057iaf.1 AB001915 NM_001134445 "CCDS81348|CCDS44170|CCDS705" O94760 9874257 MGI:1916469 RGD:70968 604743 objectId:1247 3.5.3.18 HGNC:2715 "ENST00000284031.13|NM_012137.4" +HGNC:2715 DDAH1 dimethylarginine dimethylaminohydrolase 1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 DDAH 1999-10-22 2023-01-20 23576 ENSG00000153904 OTTHUMG00000191181 uc057iaf.1 AB001915 NM_001134445 "CCDS44170|CCDS81348|CCDS705" O94760 9874257 MGI:1916469 RGD:70968 604743 objectId:1247 3.5.3.18 HGNC:2715 "ENST00000284031.13|NM_012137.4" HGNC:2716 DDAH2 dimethylarginine dimethylaminohydrolase 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 G6A 1999-10-22 2023-01-20 23564 ENSG00000213722 OTTHUMG00000031212 uc011irf.3 AF070667 NM_001303007 CCDS4718 O95865 10493931 MGI:1859016 RGD:1302955 604744 objectId:1248 3.5.3.18 HGNC:2716 "ENST00000375789.7|NM_001303007.2" HGNC:2717 DDB1 damage specific DNA binding protein 1 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 damage-specific DNA binding protein 1 (127kD) Nucleotide excision repair 1269 1995-07-06 2016-02-09 2023-01-20 1642 ENSG00000167986 OTTHUMG00000168209 uc001nrc.6 AJ002955 NM_001923 CCDS31576 Q16531 "8530102|10574459" MGI:1202384 RGD:621889 LRG_474|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_474.xml 600045 HGNC:2717 "ENST00000301764.12|NM_001923.5" -HGNC:2718 DDB2 damage specific DNA binding protein 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DDBB|UV-DDB2|FLJ34321|XPE" "xeroderma pigmentosum group E protein|UV-damaged DNA-binding protein 2|DDB p48 subunit" damage-specific DNA binding protein 2 (48kD) "WD repeat domain containing|Xeroderma pigmentosum complementation groups|Nucleotide excision repair" "362|1125|1269" 1995-07-06 2016-02-09 2023-01-20 1643 ENSG00000134574 OTTHUMG00000187453 uc001neb.3 NM_000107 "CCDS7927|CCDS91469|CCDS73284" Q92466 "8407967|8530102" MGI:1355314 RGD:1310164 LRG_467|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_467.xml DDB2 600811 121045 HGNC:2718 "ENST00000256996.9|NM_000107.3" HGNC:2718 -HGNC:2719 DDC dopa decarboxylase protein-coding gene gene with protein product Approved 7p12.2-p12.1 07p12.2-p12.1 AADC aromatic L-amino acid decarboxylase 1991-06-03 2015-11-13 2023-01-20 1644 ENSG00000132437 OTTHUMG00000023353 uc003tpg.5 NM_000790 "CCDS75598|CCDS56486|CCDS75599|CCDS5511|CCDS56485|CCDS56487" P20711 1612608 MGI:94876 RGD:2494 107930 121047 objectId:1271 4.1.1.28 HGNC:2719 "ENST00000444124.7|NM_001082971.2" HGNC:2719 +HGNC:2718 DDB2 damage specific DNA binding protein 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DDBB|UV-DDB2|FLJ34321|XPE" "xeroderma pigmentosum group E protein|UV-damaged DNA-binding protein 2|DDB p48 subunit" damage-specific DNA binding protein 2 (48kD) "WD repeat domain containing|Xeroderma pigmentosum complementation groups|Nucleotide excision repair" "362|1125|1269" 1995-07-06 2016-02-09 2023-01-20 1643 ENSG00000134574 OTTHUMG00000187453 uc001neb.3 NM_000107 "CCDS73284|CCDS91469|CCDS7927" Q92466 "8407967|8530102" MGI:1355314 RGD:1310164 LRG_467|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_467.xml DDB2 600811 121045 HGNC:2718 "ENST00000256996.9|NM_000107.3" HGNC:2718 +HGNC:2719 DDC dopa decarboxylase protein-coding gene gene with protein product Approved 7p12.2-p12.1 07p12.2-p12.1 AADC aromatic L-amino acid decarboxylase 1991-06-03 2015-11-13 2023-01-20 1644 ENSG00000132437 OTTHUMG00000023353 uc003tpg.5 NM_000790 "CCDS75599|CCDS5511|CCDS56485|CCDS56486|CCDS75598|CCDS56487" P20711 1612608 MGI:94876 RGD:2494 107930 121047 objectId:1271 4.1.1.28 HGNC:2719 "ENST00000444124.7|NM_001082971.2" HGNC:2719 HGNC:40171 DDC-AS1 DDC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p12.1 07p12.1 Antisense RNAs 1987 2014-06-18 2014-11-19 100129427 ENSG00000226122 OTTHUMG00000155976 NR_033845 DDC-AS1 HGNC:40171 -HGNC:19714 DDHD1 DDHD domain containing 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "KIAA1705|PA-PLA1|iPLA1alpha|PAPLA1" "phosphatidic acid-preferring phospholipase A1|intracellular phospholipase A1 alpha" SPG28 spastic paraplegia 28 (autosomal recessive) 2002-11-20 2023-01-20 80821 ENSG00000100523 OTTHUMG00000140305 uc001xah.4 AB051492 NM_001160147 "CCDS53896|CCDS53895|CCDS9714" Q8NEL9 "11214970|20359546" MGI:2150302 RGD:1308576 614603 180273 HGNC:19714 "ENST00000673822.2|NM_001160148.2" HGNC:19714 +HGNC:19714 DDHD1 DDHD domain containing 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "KIAA1705|PA-PLA1|iPLA1alpha|PAPLA1" "phosphatidic acid-preferring phospholipase A1|intracellular phospholipase A1 alpha" SPG28 spastic paraplegia 28 (autosomal recessive) 2002-11-20 2023-01-20 80821 ENSG00000100523 OTTHUMG00000140305 uc001xah.4 AB051492 NM_001160147 "CCDS53895|CCDS53896|CCDS9714" Q8NEL9 "11214970|20359546" MGI:2150302 RGD:1308576 614603 180273 HGNC:19714 "ENST00000673822.2|NM_001160148.2" HGNC:19714 HGNC:55441 DDHD1-DT DDHD1 divergent transcript non-coding RNA RNA, long non-coding Approved 14q22.1 14q22.1 Divergent transcripts 1990 2021-01-14 2021-01-14 101927620 ENSG00000258731 NR_110062 HGNC:29106 DDHD2 DDHD domain containing 2 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "KIAA0725|SPG54|p125B|iPLA1gamma" intracellular phospholipase A1 gamma SAMWD1 SAM, WWE and DDHD domain containing 1 Sterile alpha motif domain containing 760 2004-02-23 2004-04-07 2004-04-05 2023-01-20 23259 ENSG00000085788 OTTHUMG00000164095 uc003xlb.4 AK056525 NM_015214 CCDS34883 O94830 "9872452|11788596|19632984|20932832" MGI:1919358 RGD:1585818 615003 321575 HGNC:29106 "ENST00000397166.7|NM_015214.3" HGNC:29106 HGNC:18961 DDI1 DNA damage inducible 1 homolog 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 FLJ36017 "DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)|DNA-damage inducible 1 homolog 1 (S. cerevisiae)|DNA-damage inducible 1 homolog 1" Peptidase family A28 2098 2005-11-14 2015-11-16 2023-01-20 414301 ENSG00000170967 OTTHUMG00000165990 uc001phr.3 NM_001001711 CCDS31660 Q8WTU0 MGI:1919079 RGD:1559430 A28.A01 HGNC:18961 "ENST00000302259.5|NM_001001711.3" @@ -6292,13 +6293,13 @@ HGNC:30555 DDIT4L DNA damage inducible transcript 4 like protein-coding gene gen HGNC:55562 DDIT4L-AS1 DDIT4L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Antisense RNAs 1987 2021-04-14 2021-04-14 101929353 ENSG00000249710 NR_125924 HGNC:24458 DDN dendrin protein-coding gene gene with protein product Approved 12q13.12 12q13.12 KIAA0749 2004-11-26 2023-01-20 23109 ENSG00000181418 OTTHUMG00000156183 uc001rsv.2 AB018292 NM_015086 CCDS31791 O94850 MGI:108101 RGD:2497 610588 HGNC:24458 "ENST00000421952.3|NM_015086.2" HGNC:53464 DDN-AS1 DDN and PRKAG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 CAT1507 Antisense RNAs 1987 2017-04-27 2017-04-27 2017-04-27 105369758 ENSG00000257913 OTTHUMG00000170405 NR_147178 28415801 HGNC:53464 -HGNC:2727 DDO D-aspartate oxidase protein-coding gene gene with protein product Approved 6q21 06q21 "DASOX|DASPO" 1998-10-19 2023-01-20 8528 ENSG00000203797 OTTHUMG00000015360 uc003puc.4 D89858 NM_001368170 "CCDS5083|CCDS5082" Q99489 9163533 MGI:1925528 RGD:1595123 124450 1.4.3.1 HGNC:2727 "ENST00000368924.9|NM_001372108.2" +HGNC:2727 DDO D-aspartate oxidase protein-coding gene gene with protein product Approved 6q21 06q21 "DASOX|DASPO" 1998-10-19 2023-01-20 8528 ENSG00000203797 OTTHUMG00000015360 uc003puc.4 D89858 NM_001368170 "CCDS5082|CCDS5083" Q99489 9163533 MGI:1925528 RGD:1595123 124450 1.4.3.1 HGNC:2727 "ENST00000368924.9|NM_001372108.2" HGNC:2728 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "OST|KIAA0115|OST48|WBP1" "oligosaccharyltransferase subunit 48|advanced glycation end-product receptor 1" dolichyl-diphosphooligosaccharide-protein glycosyltransferase Oligosaccharyltransferase complex subunits 445 1997-12-23 2016-03-01 2023-01-20 1650 ENSG00000244038 OTTHUMG00000002844 uc001bdo.1 D29643 NM_005216 CCDS212 P39656 9367678 MGI:1194508 RGD:1308970 602202 303832 HGNC:2728 "ENST00000602624.7|NM_005216.5" HGNC:2728 -HGNC:2730 DDR1 discoidin domain receptor tyrosine kinase 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "RTK6|CD167" "NTRK4|PTK3A|NEP|CAK|EDDR1" discoidin domain receptor family, member 1 "Receptor tyrosine kinases|CD molecules|MicroRNA protein coding host genes" "321|471|1691" 1994-08-29 2008-01-23 2023-01-20 780 ENSG00000204580 OTTHUMG00000031236 uc011faa.3 X99031 NM_013994 "CCDS4690|CCDS93879|CCDS47396|CCDS75419|CCDS34385" Q08345 7789998 MGI:99216 RGD:2252 600408 objectId:1843 CD167 2.7.10.1 HGNC:2730 "ENST00000376568.8|NM_001297654.2" +HGNC:2730 DDR1 discoidin domain receptor tyrosine kinase 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "RTK6|CD167" "NTRK4|PTK3A|NEP|CAK|EDDR1" discoidin domain receptor family, member 1 "Receptor tyrosine kinases|CD molecules|MicroRNA protein coding host genes" "321|471|1691" 1994-08-29 2008-01-23 2023-01-20 780 ENSG00000204580 OTTHUMG00000031236 uc011faa.3 X99031 NM_013994 "CCDS47396|CCDS93879|CCDS4690|CCDS75419|CCDS34385" Q08345 7789998 MGI:99216 RGD:2252 600408 objectId:1843 CD167 2.7.10.1 HGNC:2730 "ENST00000376568.8|NM_001297654.2" HGNC:28694 DDR1-DT DDR1 divergent transcript non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 "bPG70P20.2|bCX111D4.7|bQB10J12.1" "TIGD1L|DDR1-AS1" "tigger transposable element derived 1-like|DDR1 antisense RNA 1 (non-protein coding)|DDR1 antisense RNA 1|DDR1 antisense RNA 1 (head to head)" Divergent transcripts 1990 2004-06-15 2018-03-22 2018-03-22 2018-03-22 414771 ENSG00000237775 OTTHUMG00000031229 uc063yph.1 AL137624 DDR1-AS1 HGNC:2731 DDR2 discoidin domain receptor tyrosine kinase 2 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 TKT "TYRO10|NTRKR3" discoidin domain receptor family, member 2 Receptor tyrosine kinases 321 1999-06-17 2008-01-23 2023-01-20 4921 ENSG00000162733 OTTHUMG00000034423 uc001gch.2 AK095975 NM_006182 CCDS1241 Q16832 9659899 MGI:1345277 RGD:619855 LRG_1390|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1390.xml DDR2 191311 173530 objectId:1844 2.7.10.1 HGNC:2731 "ENST00000367921.8|NM_006182.4" HGNC:2731 HGNC:16110 DDRGK1 DDRGK domain containing 1 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ1187M17.3|UFBP1" Dashurin C20orf116 chromosome 20 open reading frame 116 2001-07-17 2008-10-03 2008-10-03 2023-01-20 65992 ENSG00000198171 OTTHUMG00000031732 uc002wic.4 AL121891 NM_023935 CCDS13050 Q96HY6 "20036718|20228063|21494687" MGI:1924256 RGD:1309979 616177 HGNC:16110 "ENST00000354488.8|NM_023935.3" HGNC:16110 -HGNC:2732 DDT D-dopachrome tautomerase protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "DDCT|MIF2|MIF-2|D-DT" D-dopachrome decarboxylase 1998-03-06 2023-01-20 1652 ENSG00000099977 OTTHUMG00000150798 uc062cih.1 U49785 NM_001355 "CCDS93131|CCDS13820" P30046 "9480844|9729470|22507380|29184004" MGI:1298381 RGD:61923 602750 4.1.1.84 HGNC:2732 "ENST00000398344.9|NM_001084392.3" +HGNC:2732 DDT D-dopachrome tautomerase protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "DDCT|MIF2|MIF-2|D-DT" D-dopachrome decarboxylase 1998-03-06 2023-01-20 1652 ENSG00000099977 OTTHUMG00000150798 uc062cih.1 U49785 NM_001355 "CCDS13820|CCDS93131" P30046 "9480844|9729470|22507380|29184004" MGI:1298381 RGD:61923 602750 4.1.1.84 HGNC:2732 "ENST00000398344.9|NM_001084392.3" HGNC:33446 DDTL D-dopachrome tautomerase like protein-coding gene gene with protein product Approved 22q11.23 22q11.23 D-dopachrome decarboxylase-like protein 2007-06-19 2017-02-21 2023-01-20 100037417 ENSG00000099974 OTTHUMG00000150800 uc002zyy.5 CR606018 NM_001084393 CCDS42988 A6NHG4 "9729470|10591208" MGI:1298381 HGNC:33446 "ENST00000215770.6|NM_001084393.2" HGNC:44546 DDTP1 D-dopachrome tautomerase pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 2012-11-15 2012-11-15 101060160 ENSG00000230683 OTTHUMG00000156076 NG_052642 PGOHUM00000237591 HGNC:44546 HGNC:2734 DDX1 DEAD-box helicase 1 protein-coding gene gene with protein product Approved 2p24.3 02p24.3 DBP-RB "DEAD-box RNA helicase DDX1|DEAD-box protein retinoblastoma" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 1|DEAD (Asp-Glu-Ala-Asp) box helicase 1" "DEAD-box helicases|tRNA splicing ligase complex" "499|1345" 1993-07-06 2016-09-27 2023-01-20 1653 ENSG00000079785 OTTHUMG00000090593 uc061guy.1 X70649 NM_004939 CCDS1686 Q92499 "1552844|19058135" MGI:2144727 RGD:619903 601257 470178 3.6.4.13 HGNC:2734 "ENST00000233084.8|NM_004939.3" @@ -6306,10 +6307,10 @@ HGNC:55358 DDX3ILA1 DDX3 interacting lncRNA 1 non-coding RNA RNA, long non-codin HGNC:42171 DDX3P1 DEAD-box helicase 3 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 DDX3YP1 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, pseudogene 1" 2011-06-06 2014-10-23 2016-01-07 2016-01-07 100133180 ENSG00000232928 OTTHUMG00000021845 NG_022674 PGOHUM00000305152 HGNC:42171 HGNC:42172 DDX3P2 DEAD-box helicase 3 pseudogene 2 pseudogene pseudogene Approved Xq13.2 Xq13.2 DDX3YP2 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 2|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, pseudogene 2" 2011-06-06 2014-10-23 2016-01-07 2016-01-07 100874489 ENSG00000230986 OTTHUMG00000040019 NG_032456 PGOHUM00000261804 HGNC:42172 HGNC:42173 DDX3P3 DEAD-box helicase 3 pseudogene 3 pseudogene pseudogene Approved 4q24 04q24 DDX3YP3 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 3|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, pseudogene 3" 2011-06-06 2014-10-23 2016-01-07 2016-01-07 650560 ENSG00000251571 OTTHUMG00000160979 NG_028846 PGOHUM00000246016 HGNC:42173 -HGNC:2745 DDX3X DEAD-box helicase 3 X-linked protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "DBX|HLP2|DDX14|CAP-Rf" Helicase-like protein 2 DDX3 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked|DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked" DEAD-box helicases 499 1998-04-29 2003-06-20 2018-04-26 2023-03-15 1654 ENSG00000215301 OTTHUMG00000021369 uc033eaf.2 U50553 NM_001356 "CCDS87734|CCDS43931|CCDS87736|CCDS55404" O00571 "9381176|9730595" MGI:103064 RGD:1564771 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DDX3X DDX3X 300160 358713 3.6.4.13 HGNC:2745 "ENST00000644876.2|NM_001356.5" HGNC:2745 +HGNC:2745 DDX3X DEAD-box helicase 3 X-linked protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "DBX|HLP2|DDX14|CAP-Rf" Helicase-like protein 2 DDX3 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked|DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked" DEAD-box helicases 499 1998-04-29 2003-06-20 2018-04-26 2023-03-15 1654 ENSG00000215301 OTTHUMG00000021369 uc033eaf.2 U50553 NM_001356 "CCDS55404|CCDS87736|CCDS87734|CCDS43931" O00571 "9381176|9730595" MGI:103064 RGD:1564771 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DDX3X DDX3X 300160 358713 3.6.4.13 HGNC:2745 "ENST00000644876.2|NM_001356.5" HGNC:2745 HGNC:2699 DDX3Y DEAD-box helicase 3 Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 DBY "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked|DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked" "DEAD-box helicases|Minor histocompatibility antigens" "499|870" 1999-05-17 2003-06-20 2018-04-26 2023-01-20 8653 ENSG00000067048 OTTHUMG00000036324 uc004fsv.3 AF000984 NM_004660 CCDS14782 O15523 9381176 MGI:1349406 RGD:2314437 400010 167883 HGNC:2699 "ENST00000336079.8|NM_004660.5" -HGNC:18700 DDX4 DEAD-box helicase 4 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 VASA "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4|DEAD (Asp-Glu-Ala-Asp) box polypeptide 4" DEAD-box helicases 499 2002-05-30 2016-01-07 2023-01-20 54514 ENSG00000152670 OTTHUMG00000097044 uc003jqg.5 AF262962 NM_024415 "CCDS3969|CCDS54854|CCDS47208|CCDS54855" Q9NQI0 "10920202|11850529" MGI:102670 RGD:1308793 605281 HGNC:18700 "ENST00000505374.6|NM_024415.3" -HGNC:2746 DDX5 DEAD-box helicase 5 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 p68 "HLR1|G17P1" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 5|DEAD (Asp-Glu-Ala-Asp) box helicase 5" "DEAD-box helicases|MicroRNA protein coding host genes" "499|1691" 1989-06-30 2016-01-07 2023-01-20 1655 ENSG00000108654 OTTHUMG00000178936 uc002jek.3 AF015812 NM_004396 "CCDS11659|CCDS82190" P17844 "22156369|18698352" MGI:105037 RGD:619906 DDX5 180630 HGNC:2746 "ENST00000225792.10|NM_004396.5" +HGNC:18700 DDX4 DEAD-box helicase 4 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 VASA "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4|DEAD (Asp-Glu-Ala-Asp) box polypeptide 4" DEAD-box helicases 499 2002-05-30 2016-01-07 2023-01-20 54514 ENSG00000152670 OTTHUMG00000097044 uc003jqg.5 AF262962 NM_024415 "CCDS54855|CCDS54854|CCDS47208|CCDS3969" Q9NQI0 "10920202|11850529" MGI:102670 RGD:1308793 605281 HGNC:18700 "ENST00000505374.6|NM_024415.3" +HGNC:2746 DDX5 DEAD-box helicase 5 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 p68 "HLR1|G17P1" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 5|DEAD (Asp-Glu-Ala-Asp) box helicase 5" "DEAD-box helicases|MicroRNA protein coding host genes" "499|1691" 1989-06-30 2016-01-07 2023-01-20 1655 ENSG00000108654 OTTHUMG00000178936 uc002jek.3 AF015812 NM_004396 "CCDS82190|CCDS11659" P17844 "22156369|18698352" MGI:105037 RGD:619906 DDX5 180630 HGNC:2746 "ENST00000225792.10|NM_004396.5" HGNC:56581 DDX5P1 DDX5 pseudogene 1 pseudogene pseudogene Approved 3q26.31 03q26.31 2022-11-03 2022-11-03 100421238 ENSG00000236241 NG_025662 PGOHUM00000299275 HGNC:2747 DDX6 DEAD-box helicase 6 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "RCK|Rck/p54" HLR2 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 6|DEAD (Asp-Glu-Ala-Asp) box helicase 6" DEAD-box helicases 499 1992-09-14 2016-01-07 2023-01-20 1656 ENSG00000110367 OTTHUMG00000166411 uc031ygs.2 D17532 NM_004397 CCDS44751 P26196 "1579499|11839790" MGI:104976 RGD:1564560 DDX6 600326 HGNC:2747 "ENST00000534980.7|NM_004397.6" HGNC:2747 HGNC:13948 DDX6P1 DEAD-box helicase 6 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "DDX6-Lp|bA150A6.3" DDX6P "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 pseudogene|DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 pseudogene|DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 pseudogene 1|DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene 1" 2003-11-26 2010-02-25 2016-01-07 2020-04-20 442192 ENSG00000230056 OTTHUMG00000031293 NG_021115 PGOHUM00000243117 HGNC:13948 @@ -6317,7 +6318,7 @@ HGNC:37806 DDX6P2 DEAD-box helicase 6 pseudogene 2 pseudogene pseudogene Approve HGNC:2735 DDX10 DEAD-box helicase 10 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "HRH-J8|Dbp4" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 10" "DEAD-box helicases|SSU processome" "499|1484" 1995-12-11 2016-01-07 2023-01-20 1662 ENSG00000178105 OTTHUMG00000166540 uc001pkm.4 U28042 NM_004398 CCDS8342 Q13206 8660968 MGI:1924841 RGD:1308990 DDX10 601235 HGNC:2735 "ENST00000322536.8|NM_004398.4" HGNC:44960 DDX10P1 DEAD-box helicase 10 pseudogene 1 pseudogene pseudogene Approved 10p11.23 10p11.23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 pseudogene 1 2012-12-20 2016-01-07 2016-01-07 100421371 ENSG00000237135 OTTHUMG00000017903 NG_025423 PGOHUM00000262839 HGNC:44960 HGNC:44961 DDX10P2 DEAD-box helicase 10 pseudogene 2 pseudogene pseudogene Approved 9q21.32 09q21.32 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 pseudogene 2 2012-12-20 2016-01-07 2016-01-07 401533 ENSG00000230360 OTTHUMG00000020092 NG_021626 PGOHUM00000258384 HGNC:44961 -HGNC:2736 DDX11 DEAD/H-box helicase 11 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "ChlR1|KRG-2|CHL1|WABS" "CHL1-like helicase homolog (S. cerevisiae)|Keratinocyte growth factor-regulated gene 2|Warsaw Breakage Syndrome" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11" "DEAD-box helicases|DNA helicases" "499|1167" 1995-12-11 2016-01-07 2023-03-15 1663 ENSG00000013573 OTTHUMG00000168435 uc001rjr.2 U75969 NM_030653 "CCDS41767|CCDS8721|CCDS58224|CCDS44856" Q96FC9 "20137776|10648783" MGI:2443590 RGD:1306675 601150 280563 HGNC:2736 "ENST00000542838.6|NM_030653.4" HGNC:2736 +HGNC:2736 DDX11 DEAD/H-box helicase 11 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "ChlR1|KRG-2|CHL1|WABS" "CHL1-like helicase homolog (S. cerevisiae)|Keratinocyte growth factor-regulated gene 2|Warsaw Breakage Syndrome" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11" "DEAD-box helicases|DNA helicases" "499|1167" 1995-12-11 2016-01-07 2023-03-15 1663 ENSG00000013573 OTTHUMG00000168435 uc001rjr.2 U75969 NM_030653 "CCDS58224|CCDS41767|CCDS44856|CCDS8721" Q96FC9 "20137776|10648783" MGI:2443590 RGD:1306675 601150 280563 HGNC:2736 "ENST00000542838.6|NM_030653.4" HGNC:2736 HGNC:44176 DDX11-AS1 DDX11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 "CONCR|SCAT4" "cohesion regulator noncoding RNA|S-phase cancer-associated transcript 4" DDX11 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2018-08-03 100506660 ENSG00000245614 OTTHUMG00000168487 uc001rjq.2 AK096360 NR_038927 "27477908|29491376" DDX11-AS1 HGNC:44176 HGNC:37102 DDX11L1 DEAD/H-box helicase 11 like 1 (pseudogene) pseudogene pseudogene Approved 1p36.33 01p36.33 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1|DEAD/H-box helicase 11 like 1" 2010-02-03 2020-02-17 2020-04-20 100287102 ENSG00000223972 OTTHUMG00000000961 AM992871 NR_046018 19476624 HGNC:37102 HGNC:37103 DDX11L2 DEAD/H-box helicase 11 like 2 (pseudogene) pseudogene pseudogene Approved 2q14.1 02q14.1 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2|DEAD/H-box helicase 11 like 2" 2010-04-08 2020-02-17 2020-02-17 84771 ENSG00000236397 OTTHUMG00000047823 AM992870 NR_024004 19476624 PGOHUM00000306022 HGNC:37103 @@ -6336,7 +6337,7 @@ HGNC:37115 DDX11L16 DEAD/H-box helicase 11 like 16 (pseudogene) pseudogene pseud HGNC:55080 DDX11L17 DEAD/H-box helicase 11 like 17 (pseudogene) pseudogene pseudogene Approved 1p36.33 01p36.33 2020-06-17 2020-06-17 102725121 ENSG00000279928 NR_148357 PGOHUM00000296170 HGNC:38668 DDX12B DEAD/H-box helicase 12B, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 2022-09-23 2022-09-23 642846 ENSG00000111788 NR_024374 HGNC:2737 DDX12P DEAD/H-box helicase 12, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 CHLR2 CHL1-like helicase homolog 2 (S. cerevisiae) DDX12 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 (S.cerevisiae CHL1-like helicase)|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene" DEAD-box helicases 499 1995-12-11 2011-09-01 2016-01-07 2022-09-23 440081 ENSG00000214826 OTTHUMG00000168579 U33834 XM_495908 Q92771 MGI:2443590 601151 HGNC:2737 -HGNC:2740 DDX17 DEAD-box helicase 17 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 P72 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 17|DEAD (Asp-Glu-Ala-Asp) box helicase 17" DEAD-box helicases 499 1999-08-20 2016-01-07 2023-03-15 10521 ENSG00000100201 OTTHUMG00000151136 uc062efu.1 U59321 NM_030881 "CCDS33646|CCDS46706" Q92841 "8871553|17226766" MGI:1914290 RGD:1304945 608469 HGNC:2740 "ENST00000403230.3|NM_006386.5" +HGNC:2740 DDX17 DEAD-box helicase 17 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 P72 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 17|DEAD (Asp-Glu-Ala-Asp) box helicase 17" DEAD-box helicases 499 1999-08-20 2016-01-07 2023-03-15 10521 ENSG00000100201 OTTHUMG00000151136 uc062efu.1 U59321 NM_030881 "CCDS46706|CCDS33646" Q92841 "8871553|17226766" MGI:1914290 RGD:1304945 608469 HGNC:2740 "ENST00000403230.3|NM_006386.5" HGNC:2741 DDX18 DEAD-box helicase 18 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "MrDb|Has1" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 18" "DEAD-box helicases|SSU processome" "499|1484" 1999-09-28 2016-01-07 2023-01-20 8886 ENSG00000088205 OTTHUMG00000058521 uc002tlh.2 X98743 NM_006773 CCDS2120 Q9NVP1 8861962 MGI:1914192 RGD:1549712 606355 HGNC:2741 "ENST00000263239.7|NM_006773.4" HGNC:20007 DDX18P1 DEAD-box helicase 18 pseudogene 1 pseudogene pseudogene Approved 14q24.1 14q24.1 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 pseudogene 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 1" 2003-01-13 2016-01-07 2017-10-25 319099 ENSG00000259165 OTTHUMG00000171761 NG_002480 PGOHUM00000292714 HGNC:20007 HGNC:21432 DDX18P2 DEAD-box helicase 18 pseudogene 2 pseudogene pseudogene Approved 15q22.2 15q22.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 2 2008-01-28 2016-01-07 2016-01-07 651053 NG_007648 HGNC:21432 @@ -6344,9 +6345,9 @@ HGNC:33966 DDX18P3 DEAD-box helicase 18 pseudogene 3 pseudogene pseudogene Appro HGNC:33967 DDX18P4 DEAD-box helicase 18 pseudogene 4 pseudogene pseudogene Approved 5q15 05q15 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 4 2008-01-28 2016-01-07 2016-10-05 402222 ENSG00000251553 OTTHUMG00000162746 XR_016297 PGOHUM00000301069 HGNC:33967 HGNC:33968 DDX18P5 DEAD-box helicase 18 pseudogene 5 pseudogene pseudogene Approved 11q24.3 11q24.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 5 2008-01-28 2016-01-07 2016-10-05 646378 ENSG00000255220 OTTHUMG00000165771 XR_017110 PGOHUM00000291174 HGNC:33968 HGNC:31126 DDX18P6 DEAD-box helicase 18 pseudogene 6 pseudogene pseudogene Approved 10q23.31 10q23.31 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 6 2008-01-28 2016-01-07 2016-01-07 100131370 ENSG00000220585 OTTHUMG00000018735 NG_008704 PGOHUM00000238886 HGNC:31126 -HGNC:25628 DDX19A DEAD-box helicase 19A protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ11126 DDX19L "DEAD (Asp-Glu-Ala-As) box polypeptide 19-like|DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A" DEAD-box helicases 499 2004-11-03 2005-07-13 2016-01-07 2023-01-20 55308 ENSG00000168872 OTTHUMG00000137579 uc002eyv.4 AF183422 NM_018332 "CCDS82009|CCDS10889" Q9NUU7 26538395 MGI:99526 RGD:1303136 HGNC:25628 "ENST00000302243.12|NM_018332.5" +HGNC:25628 DDX19A DEAD-box helicase 19A protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ11126 DDX19L "DEAD (Asp-Glu-Ala-As) box polypeptide 19-like|DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A" DEAD-box helicases 499 2004-11-03 2005-07-13 2016-01-07 2023-01-20 55308 ENSG00000168872 OTTHUMG00000137579 uc002eyv.4 AF183422 NM_018332 "CCDS10889|CCDS82009" Q9NUU7 26538395 MGI:99526 RGD:1303136 HGNC:25628 "ENST00000302243.12|NM_018332.5" HGNC:55349 DDX19A-DT DDX19A divergent transcript non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 Divergent transcripts 1990 2020-11-04 2020-11-04 100506083 ENSG00000261777 NR_039997 -HGNC:2742 DDX19B DEAD-box helicase 19B protein-coding gene gene with protein product Approved 16q22.1 16q22.1 DBP5 DDX19 "DEAD (Asp-Glu-Ala-As) box polypeptide 19|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B" DEAD-box helicases 499 1999-12-07 2005-07-13 2016-01-07 2023-01-20 11269 ENSG00000157349 OTTHUMG00000137577 uc002eyo.5 AJ237946 NM_007242 "CCDS58478|CCDS42187|CCDS86540|CCDS32475|CCDS10888" Q9UMR2 10428971 MGI:2148251 RGD:1593382 605812 HGNC:2742 "ENST00000288071.11|NM_007242.7" +HGNC:2742 DDX19B DEAD-box helicase 19B protein-coding gene gene with protein product Approved 16q22.1 16q22.1 DBP5 DDX19 "DEAD (Asp-Glu-Ala-As) box polypeptide 19|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B" DEAD-box helicases 499 1999-12-07 2005-07-13 2016-01-07 2023-01-20 11269 ENSG00000157349 OTTHUMG00000137577 uc002eyo.5 AJ237946 NM_007242 "CCDS32475|CCDS86540|CCDS42187|CCDS10888|CCDS58478" Q9UMR2 10428971 MGI:2148251 RGD:1593382 605812 HGNC:2742 "ENST00000288071.11|NM_007242.7" HGNC:2743 DDX20 DEAD-box helicase 20 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "DP103|GEMIN3" Probable ATP-dependent RNA helicase DDX20 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD|DEAD (Asp-Glu-Ala-Asp) box polypeptide 20" "DEAD-box helicases|Gemins" "499|1131" 1999-12-14 2016-01-07 2023-01-20 11218 ENSG00000064703 OTTHUMG00000011956 uc001ebs.4 AF106019 NM_007204 CCDS842 Q9UHI6 10383418 MGI:1858415 RGD:621744 606168 HGNC:2743 "ENST00000369702.5|NM_007204.5" HGNC:44673 DDX20P1 DEAD-box helicase 20 pseudogene 1 pseudogene pseudogene Approved 10p15.3 10p15.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 pseudogene 1 2012-12-03 2016-01-07 2022-10-25 100421369 ENSG00000276662 NG_025412 PGOHUM00000238330 HGNC:44673 HGNC:2744 DDX21 DExD-box helicase 21 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "RH-II/GU|GURDB|Gu-alpha" nucleolar RNA helicase 2 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21|DEAD-box helicase 21" "DEAD-box helicases|B-WICH chromatin-remodelling complex subunits" "499|1787" 1999-12-15 2016-09-27 2023-01-20 9188 ENSG00000165732 OTTHUMG00000018366 uc001jov.3 U41387 NM_004728 "CCDS31211|CCDS73144|CCDS91249" Q9NR30 "8614622|18180292" MGI:1860494 RGD:1307306 606357 HGNC:2744 "ENST00000354185.9|NM_004728.4" @@ -6355,7 +6356,7 @@ HGNC:13266 DDX24 DEAD-box helicase 24 protein-coding gene gene with protein prod HGNC:18698 DDX25 DEAD-box helicase 25 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 GRTH gonadotropin-regulated testicular RNA helicase "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25|DEAD (Asp-Glu-Ala-Asp) box polypeptide 25|DEAD (Asp-Glu-Ala-Asp) box helicase 25" DEAD-box helicases 499 2002-05-30 2016-01-07 2023-01-20 29118 ENSG00000109832 OTTHUMG00000165859 uc001qcz.6 AF155140 NM_013264 "CCDS81646|CCDS44766" Q9UHL0 "10608860|15096601" MGI:1353582 RGD:68381 607663 HGNC:18698 "ENST00000263576.11|NM_013264.5" HGNC:18698 HGNC:15837 DDX27 DEAD-box helicase 27 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "dJ686N3.1|DRS1" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27|DEAD (Asp-Glu-Ala-Asp) box polypeptide 27" DEAD-box helicases 499 2001-09-17 2016-01-07 2023-01-20 55661 ENSG00000124228 OTTHUMG00000033072 uc002xuh.4 AL049766 NM_001348187 CCDS13416 Q96GQ7 MGI:2385884 RGD:1305634 616621 HGNC:15837 "ENST00000618172.5|NM_017895.8" HGNC:17330 DDX28 DEAD-box helicase 28 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "MDDX28|FLJ11282" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28|DEAD (Asp-Glu-Ala-Asp) box polypeptide 28" DEAD-box helicases 499 2001-12-07 2016-01-07 2023-01-20 55794 ENSG00000182810 OTTHUMG00000137549 uc002evh.3 AF329821 NM_018380 CCDS10858 Q9NUL7 "10493829|11350955" MGI:1919236 RGD:1311976 607618 HGNC:17330 "ENST00000332395.7|NM_018380.4" -HGNC:16715 DDX31 DEAD-box helicase 31 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "FLJ13633|FLJ23349|FLJ14578|PPP1R25" protein phosphatase 1, regulatory subunit 25 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31|DEAD (Asp-Glu-Ala-Asp) box polypeptide 31" "DEAD-box helicases|Protein phosphatase 1 regulatory subunits" "499|694" 2001-11-27 2016-01-07 2023-01-20 64794 ENSG00000125485 OTTHUMG00000020843 uc064wsi.1 AF427339 NM_138620 "CCDS6952|CCDS6951|CCDS83433" Q9H8H2 MGI:2682639 RGD:1304895 616533 HGNC:16715 "ENST00000372159.8|NM_022779.9" +HGNC:16715 DDX31 DEAD-box helicase 31 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "FLJ13633|FLJ23349|FLJ14578|PPP1R25" protein phosphatase 1, regulatory subunit 25 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31|DEAD (Asp-Glu-Ala-Asp) box polypeptide 31" "DEAD-box helicases|Protein phosphatase 1 regulatory subunits" "499|694" 2001-11-27 2016-01-07 2023-01-20 64794 ENSG00000125485 OTTHUMG00000020843 uc064wsi.1 AF427339 NM_138620 "CCDS6952|CCDS83433|CCDS6951" Q9H8H2 MGI:2682639 RGD:1304895 616533 HGNC:16715 "ENST00000372159.8|NM_022779.9" HGNC:17821 DDX39A DExD-box helicase 39A protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "DDXL|BAT1L|URH49" UAP56-related helicase, 49 kDa DDX39 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39|DEAD-box helicase 39A" "DEAD-box helicases|Transcription and export complex 1 subunits" "499|1348" 2002-04-19 2011-02-08 2016-09-27 2023-01-20 10212 ENSG00000123136 OTTHUMG00000182181 uc002myo.4 U90426 NM_138998 CCDS12308 O00148 7601445 MGI:1915528 RGD:619920 619906 HGNC:17821 "ENST00000242776.9|NM_005804.4" HGNC:39664 DDX39AP1 DEAD-box helicase 39A pseudogene 1 pseudogene pseudogene Approved 13q12.12 13q12.12 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A pseudogene 1 2011-03-18 2016-01-07 2016-10-05 646164 ENSG00000225777 OTTHUMG00000016550 NG_011331 HGNC:39664 HGNC:13917 DDX39B DExD-box helicase 39B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "D6S81E|Uap56" U2AF65-associated protein 56 BAT1 "HLA-B associated transcript 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B|DEAD-box helicase 39B" "DEAD-box helicases|Transcription and export complex 1 subunits|Spliceosomal E complex|Small nucleolar RNA protein coding host genes" "499|1348|1522|1835" 2001-07-13 2011-02-08 2016-09-27 2023-03-20 7919 ENSG00000198563 OTTHUMG00000031165 uc003ntu.4 Z37166 NM_004640 CCDS4697 Q13838 "7601445|2813433" MGI:99240 RGD:70923 142560 HGNC:13917 "ENST00000396172.6|NM_004640.7" @@ -6369,7 +6370,7 @@ HGNC:50780 DDX43P1 DEAD-box helicase 43 pseudogene 1 pseudogene pseudogene Appro HGNC:50781 DDX43P2 DEAD-box helicase 43 pseudogene 2 pseudogene pseudogene Approved 7p12.2 07p12.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 pseudogene 2 2014-06-18 2016-01-07 2016-01-07 100533714 ENSG00000270763 OTTHUMG00000184669 NG_028665 PGOHUM00000232685 HGNC:50781 HGNC:50782 DDX43P3 DEAD-box helicase 43 pseudogene 3 pseudogene pseudogene Approved 7q21.11 07q21.11 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 pseudogene 3 2014-06-18 2016-01-07 2016-01-07 106481709 ENSG00000230196 OTTHUMG00000155404 NG_045386 PGOHUM00000232903 HGNC:50782 HGNC:18681 DDX46 DEAD-box helicase 46 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0801|FLJ25329|PRPF5|Prp5" DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 "DEAD-box helicases|Spliceosomal A complex" "499|1504" 2003-06-13 2016-01-07 2023-01-20 9879 ENSG00000145833 OTTHUMG00000163072 uc003kzw.5 NM_014829 "CCDS75306|CCDS34240" Q7L014 MGI:1920895 RGD:708480 617848 HGNC:18681 "ENST00000452510.7|NM_001300860.2" -HGNC:18682 DDX47 DEAD-box helicase 47 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "DKFZp564O176|FLJ30012|HQ0256|RRP3" DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 "DEAD-box helicases|SSU processome" "499|1484" 2003-06-13 2016-01-07 2023-01-20 51202 ENSG00000213782 OTTHUMG00000168709 uc001rax.4 AK127712 NM_016355 "CCDS8655|CCDS8656" Q9H0S4 MGI:1915005 RGD:1310437 615428 HGNC:18682 "ENST00000358007.7|NM_016355.4" +HGNC:18682 DDX47 DEAD-box helicase 47 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "DKFZp564O176|FLJ30012|HQ0256|RRP3" DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 "DEAD-box helicases|SSU processome" "499|1484" 2003-06-13 2016-01-07 2023-01-20 51202 ENSG00000213782 OTTHUMG00000168709 uc001rax.4 AK127712 NM_016355 "CCDS8656|CCDS8655" Q9H0S4 MGI:1915005 RGD:1310437 615428 HGNC:18682 "ENST00000358007.7|NM_016355.4" HGNC:18684 DDX49 DEAD-box helicase 49 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ10432|Dbp8" DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 "DEAD-box helicases|SSU processome" "499|1484" 2003-06-13 2016-01-07 2023-01-20 54555 ENSG00000105671 OTTHUMG00000182994 uc002nkq.3 NM_019070 CCDS12390 Q9Y6V7 MGI:2136689 RGD:1311124 HGNC:18684 "ENST00000247003.9|NM_019070.5" HGNC:17906 DDX50 DExD-box helicase 50 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "GU2|MGC3199|GUB|RH-II/GuB" "DEAD (Asp-Glu-Ala-Asp) box polypeptide 50|DEAD-box helicase 50" DEAD-box helicases 499 2003-06-13 2016-09-27 2023-01-20 79009 ENSG00000107625 OTTHUMG00000018362 uc001jou.3 AF334103 NM_024045 CCDS7283 Q9BQ39 11891046 MGI:2182303 RGD:1310934 610373 HGNC:17906 "ENST00000373585.8|NM_024045.2" HGNC:18974 DDX50P1 DEAD-box helicase 50 pseudogene 1 pseudogene pseudogene Approved 2p22.3 02p22.3 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 1 2008-01-31 2016-01-07 2016-01-07 192146 ENSG00000229816 OTTHUMG00000152105 NG_001065 11891046 PGOHUM00000240615 HGNC:18974 @@ -6380,18 +6381,18 @@ HGNC:20083 DDX53 DEAD-box helicase 53 protein-coding gene gene with protein prod HGNC:20084 DDX54 DEAD-box helicase 54 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "MGC2835|APR-5|DP97" "apoptosis related protein 5|DEAD box polypeptide, 97kD" DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 "DEAD-box helicases|MicroRNA protein coding host genes" "499|1691" 2003-06-13 2016-01-07 2023-01-20 79039 ENSG00000123064 OTTHUMG00000169676 uc001tup.4 AF144056 NM_024072 "CCDS44984|CCDS31907" Q8TDD1 12466272 MGI:1919240 RGD:1562539 611665 3.6.4.13 HGNC:20084 "ENST00000306014.10|NM_024072.4" HGNC:20085 DDX55 DEAD-box helicase 55 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 KIAA1595 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 "DEAD-box helicases|Small nucleolar RNA protein coding host genes" "499|1835" 2003-06-13 2016-01-07 2023-01-20 57696 ENSG00000111364 OTTHUMG00000168695 uc001ufi.4 AB046815 NM_020936 CCDS9251 Q8NHQ9 10997877 MGI:1915098 RGD:2324094 620176 HGNC:20085 "ENST00000238146.9|NM_020936.3" HGNC:49852 DDX55P1 DEAD-box helicase 55 pseudogene 1 pseudogene pseudogene Approved 12p13.2 12p13.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 pseudogene 1 2014-03-18 2016-01-07 2016-11-09 100129640 ENSG00000270863 OTTHUMG00000184770 NG_021706 PGOHUM00000291553 HGNC:49852 -HGNC:18193 DDX56 DEAD-box helicase 56 protein-coding gene gene with protein product Approved 7p13 07p13 NOH61 nucleolar helicase of 61 kDa "DEAD (Asp-Glu-Ala-Asp) box polypeptide 56|DEAD (Asp-Glu-Ala-Asp) box helicase 56" DEAD-box helicases 499 2003-06-13 2016-01-07 2023-01-20 54606 ENSG00000136271 OTTHUMG00000129211 uc003tlg.5 AJ131712 NM_019082 "CCDS59053|CCDS5492" Q9NY93 10749921 MGI:1277172 RGD:1303195 608023 HGNC:18193 "ENST00000258772.10|NM_019082.4" +HGNC:18193 DDX56 DEAD-box helicase 56 protein-coding gene gene with protein product Approved 7p13 07p13 NOH61 nucleolar helicase of 61 kDa "DEAD (Asp-Glu-Ala-Asp) box polypeptide 56|DEAD (Asp-Glu-Ala-Asp) box helicase 56" DEAD-box helicases 499 2003-06-13 2016-01-07 2023-01-20 54606 ENSG00000136271 OTTHUMG00000129211 uc003tlg.5 AJ131712 NM_019082 "CCDS5492|CCDS59053" Q9NY93 10749921 MGI:1277172 RGD:1303195 608023 HGNC:18193 "ENST00000258772.10|NM_019082.4" HGNC:25360 DDX59 DEAD-box helicase 59 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZP564B1023|ZNHIT5" zinc finger HIT-type containing 5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 "Zinc fingers HIT-type|DEAD-box helicases" "83|499" 2005-02-22 2016-01-07 2023-03-15 83479 ENSG00000118197 OTTHUMG00000035725 uc009wzk.4 BC041801 NM_001031725.4 CCDS30964 Q5T1V6 23972372 MGI:1915247 RGD:1359520 615464 376535 HGNC:25360 "ENST00000331314.11|NM_001031725.6" HGNC:25360 HGNC:41094 DDX59-AS1 DDX59 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2019-05-03 2022-12-01 101929224 ENSG00000260088 OTTHUMG00000035741 NR_110787 36081993 HGNC:41094 -HGNC:25942 DDX60 DExD/H-box helicase 60 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 FLJ20035 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 Ski2 like RNA helicases 1559 2008-01-08 2016-09-27 2023-01-20 55601 ENSG00000137628 OTTHUMG00000161350 uc003irp.4 AK001649 NM_017631 "CCDS34097|CCDS93666" Q8IY21 21791617 MGI:2384570 RGD:1560014 613974 HGNC:25942 "ENST00000393743.8|NM_017631.6" +HGNC:25942 DDX60 DExD/H-box helicase 60 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 FLJ20035 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 Ski2 like RNA helicases 1559 2008-01-08 2016-09-27 2023-01-20 55601 ENSG00000137628 OTTHUMG00000161350 uc003irp.4 AK001649 NM_017631 "CCDS93666|CCDS34097" Q8IY21 21791617 MGI:2384570 RGD:1560014 613974 HGNC:25942 "ENST00000393743.8|NM_017631.6" HGNC:26429 DDX60L DExD/H-box 60 like protein-coding gene gene with protein product Approved 4q32.3 04q32.3 FLJ31033 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like Ski2 like RNA helicases 1559 2008-01-08 2017-09-12 2023-01-20 91351 ENSG00000181381 OTTHUMG00000161412 uc003irq.5 AK092461 NM_001012967 CCDS47161 Q5H9U9 26269178 616725 HGNC:26429 "ENST00000682922.1|NM_001012967.3" HGNC:14677 DEAF1 DEAF1 transcription factor protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "NUDR|SPN|ZMYND5" deformed epidermal autoregulatory factor 1 (Drosophila) Zinc fingers MYND-type 87 2001-02-27 2018-08-15 2023-01-20 10522 ENSG00000177030 OTTHUMG00000165363 uc001lqq.2 AF049460 NM_021008 "CCDS91398|CCDS31327" O75398 9773984 MGI:1858496 RGD:620671 602635 422989 HGNC:14677 "ENST00000382409.4|NM_021008.4" HGNC:14677 -HGNC:2753 DECR1 2,4-dienoyl-CoA reductase 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 SDR18C1 short chain dehydrogenase/reductase family 18C, member 1 DECR 2,4-dienoyl-CoA reductase 1, mitochondrial Short chain dehydrogenase/reductase superfamily 743 1997-07-22 2016-12-02 2023-01-20 1666 ENSG00000104325 OTTHUMG00000163829 uc003yek.2 L26050 NM_001330575 "CCDS6250|CCDS87618" Q16698 "7818482|19027726" MGI:1914710 RGD:70999 222745 470182 1.3.1.34 HGNC:2753 "ENST00000220764.7|NM_001359.2" HGNC:2753 +HGNC:2753 DECR1 2,4-dienoyl-CoA reductase 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 SDR18C1 short chain dehydrogenase/reductase family 18C, member 1 DECR 2,4-dienoyl-CoA reductase 1, mitochondrial Short chain dehydrogenase/reductase superfamily 743 1997-07-22 2016-12-02 2023-01-20 1666 ENSG00000104325 OTTHUMG00000163829 uc003yek.2 L26050 NM_001330575 "CCDS87618|CCDS6250" Q16698 "7818482|19027726" MGI:1914710 RGD:70999 222745 470182 1.3.1.34 HGNC:2753 "ENST00000220764.7|NM_001359.2" HGNC:2753 HGNC:2754 DECR2 2,4-dienoyl-CoA reductase 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "PDCR|SDR17C1" short chain dehydrogenase/reductase family 17C, member 1 2,4-dienoyl-CoA reductase 2, peroxisomal Short chain dehydrogenase/reductase superfamily 743 1999-11-15 2016-12-02 2023-01-20 26063 ENSG00000242612 OTTHUMG00000047846 uc002chb.4 AJ293009 NM_020664 CCDS10409 Q9NUI1 "11514237|19027726" MGI:1347059 RGD:71002 615839 1.3.1.34 HGNC:2754 "ENST00000219481.10|NM_020664.4" -HGNC:2755 DEDD death effector domain containing protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "DEFT|FLDED1|CASP8IP1|KE05|DEDD1" death effector domain-containing Death effector domain containing 1019 1999-12-10 2002-01-14 2023-01-20 9191 ENSG00000158796 OTTHUMG00000033104 uc001fyb.5 AF043733 NM_004216 "CCDS1219|CCDS81391" O75618 "9774341|9832420" MGI:1333874 RGD:620050 606841 HGNC:2755 "ENST00000368006.8|NM_032998.3" +HGNC:2755 DEDD death effector domain containing protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "DEFT|FLDED1|CASP8IP1|KE05|DEDD1" death effector domain-containing Death effector domain containing 1019 1999-12-10 2002-01-14 2023-01-20 9191 ENSG00000158796 OTTHUMG00000033104 uc001fyb.5 AF043733 NM_004216 "CCDS81391|CCDS1219" O75618 "9774341|9832420" MGI:1333874 RGD:620050 606841 HGNC:2755 "ENST00000368006.8|NM_032998.3" HGNC:24450 DEDD2 death effector domain containing 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLAME-3 Death effector domain containing 1019 2004-02-10 2023-01-20 162989 ENSG00000160570 OTTHUMG00000182763 uc031rkz.2 AY125488 NM_133328 "CCDS59391|CCDS12597" Q8WXF8 "11965497|12235123" MGI:1914629 RGD:1588968 617078 HGNC:24450 "ENST00000596251.6|NM_133328.4" HGNC:2760 DEF6 DEF6 guanine nucleotide exchange factor protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "IBP|SLAT|SWAP70L" SWAP-70-like adaptor protein of T cells "differentially expressed in FDCP (mouse homolog) 6|differentially expressed in FDCP 6 homolog (mouse)" Pleckstrin homology domain containing 682 2000-03-29 2019-01-21 2023-01-20 50619 ENSG00000023892 OTTHUMG00000014563 uc003okk.4 AJ276095 NM_022047 CCDS4802 Q9H4E7 19251698 MGI:1346328 RGD:1307945 610094 HGNC:2760 "ENST00000316637.7|NM_022047.4" HGNC:2760 -HGNC:25969 DEF8 differentially expressed in FDCP 8 homolog protein-coding gene gene with protein product Approved 16q24.3 16q24.3 FLJ20186 differentially expressed in FDCP 8 homolog (mouse) 2007-08-16 2016-07-14 2023-01-20 54849 ENSG00000140995 OTTHUMG00000138989 uc002fpo.3 AK131370 NM_207514 "CCDS58495|CCDS58496|CCDS10989|CCDS45555|CCDS58494|CCDS58493" Q6ZN54 27777970 MGI:1346331 RGD:1309008 HGNC:25969 "ENST00000563594.6|NM_001242818.2" +HGNC:25969 DEF8 differentially expressed in FDCP 8 homolog protein-coding gene gene with protein product Approved 16q24.3 16q24.3 FLJ20186 differentially expressed in FDCP 8 homolog (mouse) 2007-08-16 2016-07-14 2023-01-20 54849 ENSG00000140995 OTTHUMG00000138989 uc002fpo.3 AK131370 NM_207514 "CCDS58494|CCDS58496|CCDS10989|CCDS45555|CCDS58493|CCDS58495" Q6ZN54 27777970 MGI:1346331 RGD:1309008 HGNC:25969 "ENST00000563594.6|NM_001242818.2" HGNC:2761 DEFA1 defensin alpha 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 HNP-1 "DEF1|MRS|DEFA2" "defensin, alpha 2|defensin, alpha 1, myeloid-related sequence|defensin, alpha 1" Defensins, alpha 502 1988-06-27 2005-08-31 2015-11-18 2023-01-20 1667 ENSG00000206047 OTTHUMG00000154594 uc003wqv.2 M26602 NM_004084 CCDS34797 P59665 "9030614|15944200" "MGI:94880|MGI:94882|MGI:94883|MGI:99579|MGI:99580|MGI:99581|MGI:99582|MGI:99583|MGI:99584|MGI:99585|MGI:99586|MGI:99587|MGI:99588|MGI:99589|MGI:99590|MGI:99591|MGI:99592|MGI:102509|MGI:102514|MGI:102516|MGI:1345152|MGI:1915259|MGI:36" 125220 HGNC:2761 "ENST00000382692.3|NM_004084.4" HGNC:32231 DEFA1A3 defensin alpha 1 and alpha 3, variable copy number locus other region Approved 8p23.1 08p23.1 "DEFA1|DEFA3|DEFT1P" defensin, alpha 1 and alpha 3, variable copy number locus Defensins, alpha 502 2005-08-31 2015-11-18 2015-11-18 613253 "15944200|16039093|15588320|17214878" HGNC:33596 DEFA1B defensin alpha 1B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 defensin, alpha 1B Defensins, alpha 502 2009-08-05 2015-11-18 2023-01-20 728358 ENSG00000240247 OTTHUMG00000149850 uc064kbg.1 NM_001042500 CCDS43691 P59665 15944200 "MGI:94880|MGI:94882|MGI:94883|MGI:99579|MGI:99580|MGI:99581|MGI:99582|MGI:99583|MGI:99584|MGI:99585|MGI:99586|MGI:99587|MGI:99588|MGI:99589|MGI:99590|MGI:99591|MGI:99592|MGI:102509|MGI:102514|MGI:102516|MGI:1345152|MGI:1915259|MGI:36" HGNC:33596 "ENST00000382689.8|NM_001042500.2" @@ -6437,7 +6438,7 @@ HGNC:18096 DEFB115 defensin beta 115 protein-coding gene gene with protein produ HGNC:18097 DEFB116 defensin beta 116 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DEFB-16 defensin, beta 16 defensin, beta 116 Defensins, beta 503 2002-05-09 2015-11-18 2023-01-20 245930 ENSG00000215545 OTTHUMG00000159285 uc010ztm.2 DQ012020 NM_001037731 CCDS42860 Q30KQ4 "11854508|16033865" MGI:1922650 RGD:1564030 HGNC:18097 "ENST00000400549.1|NM_001037731.1" HGNC:18098 DEFB117 defensin beta 117 (pseudogene) pseudogene pseudogene Approved 20q11.21 20q11.21 DEFB-17 defensin, beta 17 "defensin, beta 117|defensin, beta 117 (pseudogene)" Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245931 ENSG00000212717 OTTHUMG00000184006 DQ012021 NG_032981 "11854508|16033865" HGNC:18098 HGNC:16196 DEFB118 defensin beta 118 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ1018D12.3|DEFB-18|ESC42" C20orf63 "chromosome 20 open reading frame 63|defensin, beta 118" Defensins, beta 503 2001-07-17 2002-05-10 2015-11-18 2023-01-20 117285 ENSG00000131068 OTTHUMG00000032161 uc002wvr.4 AF347073 NM_054112 CCDS13177 Q96PH6 "11564719|15033915" MGI:2684967 RGD:1562393 607650 HGNC:16196 "ENST00000253381.3|NM_054112.3" -HGNC:18099 DEFB119 defensin beta 119 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "DEFB-19|DEFB-20" DEFB120 "defensin, beta 120|defensin, beta 119" Defensins, beta 503 2002-05-09 2015-11-18 2023-03-15 245932 ENSG00000180483 OTTHUMG00000032172 uc002wvt.5 AA939044 NM_153289 "CCDS13178|CCDS33455" Q8N690 11854508 MGI:2385955 RGD:1559541 615997 HGNC:18099 "ENST00000376321.4|NM_153289.4" +HGNC:18099 DEFB119 defensin beta 119 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "DEFB-19|DEFB-20" DEFB120 "defensin, beta 120|defensin, beta 119" Defensins, beta 503 2002-05-09 2015-11-18 2023-03-15 245932 ENSG00000180483 OTTHUMG00000032172 uc002wvt.5 AA939044 NM_153289 "CCDS33455|CCDS13178" Q8N690 11854508 MGI:2385955 RGD:1559541 615997 HGNC:18099 "ENST00000376321.4|NM_153289.4" HGNC:18101 DEFB121 defensin beta 121 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DEFB-21 defensin, beta 21 defensin, beta 121 Defensins, beta 503 2002-05-09 2015-11-18 2023-01-20 245934 ENSG00000204548 OTTHUMG00000032171 uc002wvv.3 AI476463 NM_001011878 CCDS33456 Q5J5C9 11854508 616075 HGNC:18101 "ENST00000376314.3|NM_001011878.3" HGNC:18102 DEFB122 defensin beta 122 (pseudogene) pseudogene pseudogene Approved 20q11.21 20q11.21 "DEFB-22|DEFB122P" "defensin, beta 122|defensin, beta 122 (pseudogene)" Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245935 ENSG00000204547 OTTHUMG00000032169 AI989655 NR_045677 "11854508|15772680" 616077 HGNC:18102 HGNC:18103 DEFB123 defensin beta 123 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DEFB-23 beta defensin 23 defensin, beta 123 Defensins, beta 503 2002-05-09 2015-11-18 2023-01-20 245936 ENSG00000180424 OTTHUMG00000032170 uc002wvy.4 AA933749 NM_153324 CCDS13180 Q8N688 11854508 MGI:2385956 RGD:1564902 616076 HGNC:18103 "ENST00000376309.4|NM_153324.4" @@ -6468,21 +6469,21 @@ HGNC:20113 DEGS2 delta 4-desaturase, sphingolipid 2 protein-coding gene gene wit HGNC:2768 DEK DEK proto-oncogene protein-coding gene gene with protein product Approved 6p22.3 06p22.3 D6S231E "DEK oncogene (DNA binding)|DEK oncogene" B-WICH chromatin-remodelling complex subunits 1787 2000-02-21 2014-06-25 2023-01-20 7913 ENSG00000124795 OTTHUMG00000014319 uc003ncr.2 X64229 NM_001134709 "CCDS34344|CCDS47382" P35659 1549122 MGI:1926209 RGD:1303246 LRG_1375|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1375.xml DEK 125264 168426 HGNC:2768 "ENST00000652689.1|NM_003472.4" HGNC:28969 DELE1 DAP3 binding cell death enhancer 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 DELE death ligand signal enhancer KIAA0141 KIAA0141 2004-12-08 2018-02-19 2018-02-19 2023-01-20 9812 ENSG00000081791 OTTHUMG00000129662 uc003llt.4 BC011269 NM_014773 CCDS4268 Q14154 20563667 MGI:1914089 RGD:735029 615741 HGNC:28969 "ENST00000432126.7|NM_014773.5" HGNC:23658 DELEC1 deleted in esophageal cancer 1 non-coding RNA RNA, long non-coding Approved 9q33.1 09q33.1 CTS9 candidate tumor suppressor 9 DEC1 Long non-coding RNAs with non-systematic symbols 1992 2003-11-28 2019-10-10 2023-03-15 50514 ENSG00000173077 OTTHUMG00000020549 uc004bjk.1 AB022761 NR_163556 Q9P2X7 "8603412|10612805" 604767 HGNC:23658 -HGNC:29324 DENND1A DENN domain containing 1A protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "FLJ21129|FAM31A" connecdenn 1 KIAA1608 "KIAA1608|DENN/MADD domain containing 1A" "DENN domain containing|MicroRNA protein coding host genes" "504|1691" 2004-01-29 2005-08-17 2016-02-12 2023-01-20 57706 ENSG00000119522 OTTHUMG00000020643 uc004bnz.2 AB046828 NM_024820 "CCDS35133|CCDS87687|CCDS94479|CCDS35134" Q8TEH3 10997877 MGI:2442794 RGD:1307927 613633 HGNC:29324 "ENST00000394215.7|NM_001352964.2" -HGNC:28404 DENND1B DENN domain containing 1B protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "MGC27044|FLJ20054" connecdenn 2 "FAM31B|C1orf218" "family with sequence similarity 31, member B|chromosome 1 open reading frame 218|DENN/MADD domain containing 1B" DENN domain containing 504 2004-01-29 2005-08-17 2016-02-12 2023-03-15 163486 ENSG00000213047 OTTHUMG00000035653 uc001guf.4 BC016588 NM_144977 "CCDS72997|CCDS41452|CCDS72996" Q6P3S1 "20032318|26774822" MGI:2447812 RGD:1308441 613292 HGNC:28404 "ENST00000620048.6|NM_001195215.2" -HGNC:26225 DENND1C DENN domain containing 1C protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ22757 connecdenn 3 FAM31C "family with sequence similarity 31, member C|DENN/MADD domain containing 1C" DENN domain containing 504 2004-01-29 2005-08-17 2016-02-12 2023-01-20 79958 ENSG00000205744 OTTHUMG00000180853 uc002mfe.4 AL713770 NM_024898 "CCDS77225|CCDS45938" Q8IV53 20937701 MGI:1918035 RGD:1590869 613634 HGNC:26225 "ENST00000381480.7|NM_024898.4" +HGNC:29324 DENND1A DENN domain containing 1A protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "FLJ21129|FAM31A" connecdenn 1 KIAA1608 "KIAA1608|DENN/MADD domain containing 1A" "DENN domain containing|MicroRNA protein coding host genes" "504|1691" 2004-01-29 2005-08-17 2016-02-12 2023-01-20 57706 ENSG00000119522 OTTHUMG00000020643 uc004bnz.2 AB046828 NM_024820 "CCDS35134|CCDS87687|CCDS35133|CCDS94479" Q8TEH3 10997877 MGI:2442794 RGD:1307927 613633 HGNC:29324 "ENST00000394215.7|NM_001352964.2" +HGNC:28404 DENND1B DENN domain containing 1B protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "MGC27044|FLJ20054" connecdenn 2 "FAM31B|C1orf218" "family with sequence similarity 31, member B|chromosome 1 open reading frame 218|DENN/MADD domain containing 1B" DENN domain containing 504 2004-01-29 2005-08-17 2016-02-12 2023-03-15 163486 ENSG00000213047 OTTHUMG00000035653 uc001guf.4 BC016588 NM_144977 "CCDS72996|CCDS72997|CCDS41452" Q6P3S1 "20032318|26774822" MGI:2447812 RGD:1308441 613292 HGNC:28404 "ENST00000620048.6|NM_001195215.2" +HGNC:26225 DENND1C DENN domain containing 1C protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ22757 connecdenn 3 FAM31C "family with sequence similarity 31, member C|DENN/MADD domain containing 1C" DENN domain containing 504 2004-01-29 2005-08-17 2016-02-12 2023-01-20 79958 ENSG00000205744 OTTHUMG00000180853 uc002mfe.4 AL713770 NM_024898 "CCDS45938|CCDS77225" Q8IV53 20937701 MGI:1918035 RGD:1590869 613634 HGNC:26225 "ENST00000381480.7|NM_024898.4" HGNC:22212 DENND2A DENN domain containing 2A protein-coding gene gene with protein product Approved 7q34 07q34 FAM31D KIAA1277 "KIAA1277|DENN/MADD domain containing 2A" DENN domain containing 504 2004-01-29 2005-08-17 2016-02-12 2023-01-20 27147 ENSG00000146966 OTTHUMG00000157411 uc003vvw.3 AB033103 NM_015689 "CCDS43659|CCDS83233" Q9ULE3 MGI:2444961 RGD:1306142 620120 HGNC:22212 "ENST00000496613.6|NM_015689.5" -HGNC:11350 DENND2B DENN domain containing 2B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "HTS1|p126" "DENN/MADD domain containing 2B|HeLa tumor suppression" ST5 suppression of tumorigenicity 5 DENN domain containing 504 1992-07-09 2019-08-27 2019-08-27 2023-01-20 6764 ENSG00000166444 OTTHUMG00000165835 uc001mgv.4 U15131 NM_005418 "CCDS7792|CCDS7791|CCDS91434" P78524 "1390339|9632734" MGI:108517 RGD:1308995 140750 HGNC:11350 "ENST00000313726.11|NM_213618.2" +HGNC:11350 DENND2B DENN domain containing 2B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "HTS1|p126" "DENN/MADD domain containing 2B|HeLa tumor suppression" ST5 suppression of tumorigenicity 5 DENN domain containing 504 1992-07-09 2019-08-27 2019-08-27 2023-01-20 6764 ENSG00000166444 OTTHUMG00000165835 uc001mgv.4 U15131 NM_005418 "CCDS91434|CCDS7791|CCDS7792" P78524 "1390339|9632734" MGI:108517 RGD:1308995 140750 HGNC:11350 "ENST00000313726.11|NM_213618.2" HGNC:56176 DENND2B-AS1 DENND2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2022-01-14 2022-01-14 102724784 ENSG00000255159 NR_120590 -HGNC:24748 DENND2C DENN domain containing 2C protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ37099|DKFZp686G0351|DKFZp779P1149|dJ1156J9.1|RP5-1156J9.1" DENN/MADD domain containing 2C DENN domain containing 504 2005-08-17 2016-02-12 2023-01-20 163259 ENSG00000175984 OTTHUMG00000011893 uc001efc.2 NM_198459 "CCDS58018|CCDS875" Q68D51 MGI:3036254 RGD:1308197 HGNC:24748 "ENST00000393274.6|NM_001256404.2" -HGNC:26192 DENND2D DENN domain containing 2D protein-coding gene gene with protein product Approved 1p13.3-p13.2 01p13.3-p13.2 "FLJ22457|RP5-1180E21.2" DENN/MADD domain containing 2D DENN domain containing 504 2005-08-17 2016-02-12 2023-01-20 79961 ENSG00000162777 OTTHUMG00000012356 uc001eak.3 NM_024901 "CCDS60219|CCDS831" Q9H6A0 29030480 MGI:2181193 RGD:1305120 615111 HGNC:26192 "ENST00000357640.9|NM_024901.5" +HGNC:24748 DENND2C DENN domain containing 2C protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ37099|DKFZp686G0351|DKFZp779P1149|dJ1156J9.1|RP5-1156J9.1" DENN/MADD domain containing 2C DENN domain containing 504 2005-08-17 2016-02-12 2023-01-20 163259 ENSG00000175984 OTTHUMG00000011893 uc001efc.2 NM_198459 "CCDS875|CCDS58018" Q68D51 MGI:3036254 RGD:1308197 HGNC:24748 "ENST00000393274.6|NM_001256404.2" +HGNC:26192 DENND2D DENN domain containing 2D protein-coding gene gene with protein product Approved 1p13.3-p13.2 01p13.3-p13.2 "FLJ22457|RP5-1180E21.2" DENN/MADD domain containing 2D DENN domain containing 504 2005-08-17 2016-02-12 2023-01-20 79961 ENSG00000162777 OTTHUMG00000012356 uc001eak.3 NM_024901 "CCDS831|CCDS60219" Q9H6A0 29030480 MGI:2181193 RGD:1305120 615111 HGNC:26192 "ENST00000357640.9|NM_024901.5" HGNC:29134 DENND3 DENN domain containing 3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA0870 DENN/MADD domain containing 3 "WD repeat domain containing|DENN domain containing" "362|504" 2005-08-17 2016-02-12 2023-01-20 22898 ENSG00000105339 OTTHUMG00000164775 uc003yvy.4 AB020677 NM_014957 CCDS87629 A2RUS2 28249939 MGI:2146009 RGD:1311559 617503 HGNC:29134 "ENST00000519811.6|NM_001352890.3" HGNC:55537 DENND3-AS1 DENND3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 Antisense RNAs 1987 2021-03-24 2021-03-24 101927963 ENSG00000253210 NR_183298 -HGNC:24321 DENND4A DENN domain containing 4A protein-coding gene gene with protein product Approved 15q22.31 15q22.31 IRLB MYCPBP "c-myc promoter binding protein|DENN/MADD domain containing 4A" "DENN domain containing|MicroRNA protein coding host genes" "504|1691" 2004-07-02 2006-01-27 2016-02-12 2023-03-15 10260 ENSG00000174485 OTTHUMG00000172635 uc002aph.4 AF534403 NM_005848 "CCDS92025|CCDS45285" Q7Z401 "8056341|12906859" MGI:2142979 RGD:1562639 600382 HGNC:24321 "ENST00000443035.8|NM_001320835.1" +HGNC:24321 DENND4A DENN domain containing 4A protein-coding gene gene with protein product Approved 15q22.31 15q22.31 IRLB MYCPBP "c-myc promoter binding protein|DENN/MADD domain containing 4A" "DENN domain containing|MicroRNA protein coding host genes" "504|1691" 2004-07-02 2006-01-27 2016-02-12 2023-03-15 10260 ENSG00000174485 OTTHUMG00000172635 uc002aph.4 AF534403 NM_005848 "CCDS45285|CCDS92025" Q7Z401 "8056341|12906859" MGI:2142979 RGD:1562639 600382 HGNC:24321 "ENST00000443035.8|NM_001320835.1" HGNC:29044 DENND4B DENN domain containing 4B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 KIAA0476 "KIAA0476|DENN/MADD domain containing 4B" DENN domain containing 504 2004-04-05 2006-01-27 2016-02-12 2023-01-20 9909 ENSG00000198837 OTTHUMG00000037157 uc001fdd.2 AB007945 NM_014856 CCDS44228 O75064 "9455484|12906859" MGI:2446201 RGD:1560320 619843 HGNC:29044 "ENST00000361217.9|NM_014856.3" HGNC:29044 HGNC:26079 DENND4C DENN domain containing 4C protein-coding gene gene with protein product Approved 9p22.1 09p22.1 "FLJ20686|bA513M16.3|RAB10GEF" "C9orf55B|C9orf55" "chromosome 9 open reading frame 55B|chromosome 9 open reading frame 55|DENN/MADD domain containing 4C" DENN domain containing 504 2004-01-05 2006-01-27 2016-02-12 2023-01-20 55667 ENSG00000137145 OTTHUMG00000019627 uc031tcw.2 AK000693 NM_017925 "CCDS83349|CCDS6491" Q5VZ89 "12906859|21454697" MGI:1914769 RGD:1308489 HGNC:26079 "ENST00000434457.7|NM_001330640.2" -HGNC:19344 DENND5A DENN domain containing 5A protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA1091|FLJ22354|FLJ33829|FLJ43455" RAB6IP1 "RAB6 interacting protein 1|DENN/MADD domain containing 5A" DENN domain containing 504 2002-10-08 2008-08-14 2016-02-12 2023-01-20 23258 ENSG00000184014 OTTHUMG00000165716 uc001mhl.5 AB029014 NM_015213 "CCDS58119|CCDS31423|CCDS91437" Q6IQ26 "10470851|20937701" MGI:1201681 RGD:1306759 617278 HGNC:19344 "ENST00000328194.8|NM_015213.4" HGNC:19344 -HGNC:28338 DENND5B DENN domain containing 5B protein-coding gene gene with protein product Approved 12p11.21 12p11.21 MGC24039 DENN/MADD domain containing 5B DENN domain containing 504 2008-08-14 2016-02-12 2023-01-20 160518 ENSG00000170456 OTTHUMG00000169034 uc001rki.2 AF086301 NM_144973 "CCDS91679|CCDS44857|CCDS76542" Q6ZUT9 12477932 MGI:2444273 RGD:2318606 617279 HGNC:28338 "ENST00000389082.10|NM_144973.4" +HGNC:19344 DENND5A DENN domain containing 5A protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA1091|FLJ22354|FLJ33829|FLJ43455" RAB6IP1 "RAB6 interacting protein 1|DENN/MADD domain containing 5A" DENN domain containing 504 2002-10-08 2008-08-14 2016-02-12 2023-01-20 23258 ENSG00000184014 OTTHUMG00000165716 uc001mhl.5 AB029014 NM_015213 "CCDS91437|CCDS58119|CCDS31423" Q6IQ26 "10470851|20937701" MGI:1201681 RGD:1306759 617278 HGNC:19344 "ENST00000328194.8|NM_015213.4" HGNC:19344 +HGNC:28338 DENND5B DENN domain containing 5B protein-coding gene gene with protein product Approved 12p11.21 12p11.21 MGC24039 DENN/MADD domain containing 5B DENN domain containing 504 2008-08-14 2016-02-12 2023-01-20 160518 ENSG00000170456 OTTHUMG00000169034 uc001rki.2 AF086301 NM_144973 "CCDS44857|CCDS91679|CCDS76542" Q6ZUT9 12477932 MGI:2444273 RGD:2318606 617279 HGNC:28338 "ENST00000389082.10|NM_144973.4" HGNC:42517 DENND5B-AS1 DENND5B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 DENND5B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-03 2012-08-15 2014-11-19 100874249 ENSG00000255867 OTTHUMG00000169083 uc058mmp.1 NR_046909 DENND5B-AS1 HGNC:42517 HGNC:26635 DENND6A DENN domain containing 6A protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "FLJ34969|AFI1A" FAM116A "family with sequence similarity 116, member A|DENN/MADD domain containing 6A" DENN domain containing 504 2006-04-07 2012-10-03 2016-02-12 2023-01-20 201627 ENSG00000174839 OTTHUMG00000158639 uc003dja.4 AK074156 NM_152678 CCDS33773 Q8IWF6 21330364 MGI:2442980 RGD:1306064 HGNC:26635 "ENST00000311128.10|NM_152678.3" HGNC:41152 DENND6A-AS1 DENND6A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 Antisense RNAs 1987 2015-03-11 2015-03-11 106144528 ENSG00000239801 OTTHUMG00000158638 AW183704 DENND6A-AS1 @@ -6492,26 +6493,26 @@ HGNC:31793 DENND10 DENN domain containing 10 protein-coding gene gene with prote HGNC:30886 DENND10P1 DENND10 pseudogene 1 pseudogene pseudogene Approved Xq26.1 Xq26.1 HT011 "FAM45B|FAM45BP" "family with sequence similarity 45, member B|family with sequence similarity 45 member B, pseudogene" 2004-07-29 2019-06-14 2019-06-14 2023-03-15 55855 ENSG00000221930 OTTHUMG00000022399 AF220185 NR_027141 Q6NSW5 12477932 MGI:1915144 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM45B HGNC:30886 HGNC:29472 DENND11 DENN domain containing 11 protein-coding gene gene with protein product Approved 7q34 07q34 LCHN KIAA1147 KIAA1147 DENN domain containing 504 2006-06-30 2019-06-14 2019-06-14 2023-01-20 57189 ENSG00000257093 OTTHUMG00000157539 uc003vwk.3 AB032973 NM_001080392 CCDS47726 A4D1U4 MGI:2444256 RGD:1563986 620122 HGNC:29472 "ENST00000536163.6|NM_001080392.2" HGNC:2769 DENR density regulated re-initiation and release factor protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "DRP|DRP1|SMAP-3" density-regulated protein 1999-06-17 2016-07-04 2023-01-20 8562 ENSG00000139726 OTTHUMG00000168844 uc001uda.4 AF038554 NM_003677 CCDS45003 O43583 "9628587|16982740|20713520|27239039" MGI:1915434 RGD:1584200 604550 HGNC:2769 "ENST00000280557.11|NM_003677.5" -HGNC:22949 DEPDC1 DEP domain containing 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "DEP.8|FLJ20354|SDP35|DEPDC1A" 2004-02-23 2023-01-20 55635 ENSG00000024526 OTTHUMG00000009212 uc001del.5 AK000361 NM_017779 "CCDS44159|CCDS644" Q5TB30 28602627 MGI:1923381 RGD:1306987 612002 HGNC:22949 "ENST00000456315.7|NM_001114120.3" +HGNC:22949 DEPDC1 DEP domain containing 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "DEP.8|FLJ20354|SDP35|DEPDC1A" 2004-02-23 2023-01-20 55635 ENSG00000024526 OTTHUMG00000009212 uc001del.5 AK000361 NM_017779 "CCDS644|CCDS44159" Q5TB30 28602627 MGI:1923381 RGD:1306987 612002 HGNC:22949 "ENST00000456315.7|NM_001114120.3" HGNC:50592 DEPDC1-AS1 DEPDC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.3-p31.2 01p31.3-p31.2 Antisense RNAs 1987 2014-05-22 2014-05-22 2018-02-13 101927220 ENSG00000234264 OTTHUMG00000009207 NR_110671 DEPDC1-AS1 HGNC:50592 HGNC:24902 DEPDC1B DEP domain containing 1B protein-coding gene gene with protein product Approved 5q12.1 05q12.1 "XTP1|BRCC3" breast cancer cell 3 2004-06-04 2023-01-20 55789 ENSG00000035499 OTTHUMG00000097083 uc003jsh.4 AF303178 NM_018369 "CCDS47214|CCDS3977" Q8WUY9 25458010 MGI:2145425 RGD:1305799 616073 HGNC:24902 "ENST00000265036.10|NM_018369.3" HGNC:31125 DEPDC1P1 DEP domain containing 1 pseudogene 1 pseudogene pseudogene Approved 15q13.3 15q13.3 2008-01-31 2020-04-07 730888 ENSG00000259358 OTTHUMG00000172235 XR_015306 PGOHUM00000292886 HGNC:31125 HGNC:33975 DEPDC1P2 DEP domain containing 1 pseudogene 2 pseudogene pseudogene Approved 9q31.2 09q31.2 2008-01-31 2020-04-06 100126446 ENSG00000232486 OTTHUMG00000020430 NG_007042 PGOHUM00000304432 HGNC:33975 -HGNC:22952 DEPDC4 DEP domain containing 4 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "DEP.4|FLJ33505" 2004-02-23 2023-01-20 120863 ENSG00000166153 OTTHUMG00000170318 uc001thi.4 AK090824 NM_152317 "CCDS91741|CCDS9075" Q8N2C3 12477932 HGNC:22952 "ENST00000550587.6|NM_001364818.2" -HGNC:18423 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit protein-coding gene gene with protein product Approved 22q12.2-q12.3 22q12.2-q12.3 "KIAA0645|DEP.5" DEP domain containing 5 GATOR1 subcomplex 1394 2004-05-05 2019-08-30 2023-01-20 9681 ENSG00000100150 OTTHUMG00000030926 uc003alt.4 AB014545 NM_014662 "CCDS46692|CCDS87017|CCDS43006|CCDS56229|CCDS93151|CCDS43007|CCDS87018|CCDS74849" O75140 "23542697|23542701" MGI:2141101 RGD:1311535 614191 353372 HGNC:18423 "ENST00000651528.2|NM_001242896.3" HGNC:18423 -HGNC:29899 DEPDC7 DEP domain containing 7 protein-coding gene gene with protein product Approved 11p13 11p13 2006-03-24 2023-01-20 91614 ENSG00000121690 OTTHUMG00000166242 uc001mub.3 NM_139160 "CCDS41633|CCDS41632" Q96QD5 "10568747|29344171" MGI:2139258 RGD:1309720 612294 HGNC:29899 "ENST00000241051.8|NM_001077242.2" +HGNC:22952 DEPDC4 DEP domain containing 4 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "DEP.4|FLJ33505" 2004-02-23 2023-01-20 120863 ENSG00000166153 OTTHUMG00000170318 uc001thi.4 AK090824 NM_152317 "CCDS9075|CCDS91741" Q8N2C3 12477932 HGNC:22952 "ENST00000550587.6|NM_001364818.2" +HGNC:18423 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit protein-coding gene gene with protein product Approved 22q12.2-q12.3 22q12.2-q12.3 "KIAA0645|DEP.5" DEP domain containing 5 GATOR1 subcomplex 1394 2004-05-05 2019-08-30 2023-01-20 9681 ENSG00000100150 OTTHUMG00000030926 uc003alt.4 AB014545 NM_014662 "CCDS87018|CCDS46692|CCDS43006|CCDS56229|CCDS93151|CCDS87017|CCDS74849|CCDS43007" O75140 "23542697|23542701" MGI:2141101 RGD:1311535 614191 353372 HGNC:18423 "ENST00000651528.2|NM_001242896.3" HGNC:18423 +HGNC:29899 DEPDC7 DEP domain containing 7 protein-coding gene gene with protein product Approved 11p13 11p13 2006-03-24 2023-01-20 91614 ENSG00000121690 OTTHUMG00000166242 uc001mub.3 NM_139160 "CCDS41632|CCDS41633" Q96QD5 "10568747|29344171" MGI:2139258 RGD:1309720 612294 HGNC:29899 "ENST00000241051.8|NM_001077242.2" HGNC:23355 DEPP1 DEPP autophagy regulator 1 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "DEPP|FIG|Fseg" "decidual protein induced by progesterone|fasting induced|fat-specific expressed gene" C10orf10 chromosome 10 open reading frame 10 2003-11-12 2017-10-30 2022-09-01 2023-01-20 11067 ENSG00000165507 OTTHUMG00000018063 uc001jbr.5 AB022718 NM_007021 CCDS7210 Q9NTK1 "28545464|24530860|19937567|16123073" MGI:1918730 RGD:1565700 611309 HGNC:23355 "ENST00000298295.4|NM_007021.4" HGNC:22953 DEPTOR DEP domain containing MTOR interacting protein protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "DEP.6|FLJ12428" DEPDC6 DEP domain containing 6 PDZ domain containing 1220 2004-02-23 2010-12-08 2016-12-02 2023-01-20 64798 ENSG00000155792 OTTHUMG00000165052 uc003yow.6 NM_022783 "CCDS64960|CCDS6331" Q8TB45 19446321 MGI:2146322 RGD:1561030 612974 HGNC:22953 "ENST00000286234.6|NM_022783.4" HGNC:55602 DEPTOR-AS1 DEPTOR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.12 08q24.12 KB-1471A8.2 Antisense RNAs 1987 2021-06-07 2022-11-25 121676927 ENSG00000245330 30892073 HGNC:24269 DERA deoxyribose-phosphate aldolase protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "CGI-26|DEOC" 2-deoxyribose-5-phosphate aldolase homolog (C. elegans) 2004-12-07 2016-03-08 2023-01-20 51071 ENSG00000023697 OTTHUMG00000165537 uc001rde.4 AF132960 NM_015954 "CCDS73451|CCDS44838" Q9Y315 "12546782|25229427" MGI:1913762 RGD:1589836 619668 4.1.2.4 HGNC:24269 "ENST00000428559.7|NM_015954.4" HGNC:28454 DERL1 derlin 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MGC3067|PRO2577|FLJ13784|DER1|DER-1|derlin-1" Der1-like domain family, member 1 Rhomboid family 926 2004-11-02 2012-02-01 2023-01-20 79139 ENSG00000136986 OTTHUMG00000165080 uc003ypl.3 BC002457 NM_024295 "CCDS47915|CCDS83319|CCDS6337" Q9BUN8 "12975309|15215855" MGI:1915069 RGD:1311835 608813 HGNC:28454 "ENST00000259512.9|NM_024295.6" HGNC:17943 DERL2 derlin 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "F-LAN-1|FLANa|F-LANa|CGI-101|derlin-2" Der1-like domain family, member 2 Rhomboid family 926 2004-11-02 2012-02-01 2023-01-20 51009 ENSG00000072849 OTTHUMG00000102040 uc002gcc.2 BC010890 NM_016041 "CCDS11073|CCDS76927" Q9GZP9 "10810093|11500051" MGI:2151483 RGD:6496100 610304 HGNC:17943 "ENST00000158771.9|NM_016041.5" -HGNC:14236 DERL3 derlin 3 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "FLJ43842|MGC71803|derlin-3|IZP6" C22orf14 "chromosome 22 open reading frame 14|Der1-like domain family, member 3" Rhomboid family 926 2001-02-14 2004-11-02 2012-02-01 2023-01-20 91319 ENSG00000099958 OTTHUMG00000150743 uc002zyh.4 AB049213 NM_198440 "CCDS46672|CCDS42986|CCDS33615" Q96Q80 15215855 MGI:1917627 RGD:1597373 610305 HGNC:14236 "ENST00000318109.12|NM_001002862.3" +HGNC:14236 DERL3 derlin 3 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "FLJ43842|MGC71803|derlin-3|IZP6" C22orf14 "chromosome 22 open reading frame 14|Der1-like domain family, member 3" Rhomboid family 926 2001-02-14 2004-11-02 2012-02-01 2023-01-20 91319 ENSG00000099958 OTTHUMG00000150743 uc002zyh.4 AB049213 NM_198440 "CCDS46672|CCDS33615|CCDS42986" Q96Q80 15215855 MGI:1917627 RGD:1597373 610305 HGNC:14236 "ENST00000318109.12|NM_001002862.3" HGNC:54084 DERPC DERPC proline and glycine rich nuclear protein protein-coding gene gene with protein product Approved 16q22.1 16q22.1 decreased expression in renal and prostate cancer 2018-11-21 2019-01-22 2023-01-20 113455421 ENSG00000286140 NM_001366603 CCDS92188 P0CG12 12477976 "MGI:2443370|MGI:6303050" RGD:21079726 HGNC:54084 "ENST00000519520.7|NM_001002847.4" HGNC:2770 DES desmin protein-coding gene gene with protein product Approved 2q35 02q35 "CMD1I|CSM1|CSM2|LGMD2R" "intermediate filament protein|cardiomyopathy, dilated 1I" Intermediate filaments Type III 610 2001-06-22 2023-02-14 1674 ENSG00000175084 OTTHUMG00000058924 uc002vll.3 AF521879 NM_001927 CCDS33383 P17661 "2673923|9736733" MGI:94885 RGD:620686 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DES|LRG_380|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_380.xml" 125660 121053 HGNC:2770 "ENST00000373960.4|NM_001927.4" HGNC:2770 HGNC:24577 DESI1 desumoylating isopeptidase 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "D15Wsu75e|DESI-1|POST" polyubiquitinated substrate transporter "FAM152B|PPPDE2" "family with sequence similarity 152, member B|PPPDE peptidase domain containing 2" Desumoylating isopeptidases 986 2008-01-09 2012-05-16 2012-05-16 2023-01-20 27351 ENSG00000100418 OTTHUMG00000044632 uc003bam.3 AF038183 NM_015704 CCDS33652 Q6ICB0 "8619474|9110174|22370726" MGI:106313 RGD:1305776 614637 HGNC:24577 "ENST00000263256.7|NM_015704.3" -HGNC:24264 DESI2 desumoylating isopeptidase 2 protein-coding gene gene with protein product Approved 1q44 01q44 "CGI-146|FLJ21998|PNAS-4|DESI-2" "C1orf121|FAM152A|PPPDE1" "chromosome 1 open reading frame 121|family with sequence similarity 152, member A|PPPDE peptidase domain containing 1" Desumoylating isopeptidases 986 2005-06-21 2012-05-16 2012-05-16 2023-01-20 51029 ENSG00000121644 OTTHUMG00000040398 uc001iao.4 AK025651 NM_016076 "CCDS1626|CCDS73055" Q9BSY9 "10810093|22370726" MGI:1926075 RGD:1359392 614638 HGNC:24264 "ENST00000302550.16|NM_016076.5" -HGNC:25477 DET1 DET1 partner of COP1 E3 ubiquitin ligase protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FLJ10103 "de-etiolated homolog 1 (Arabidopsis)|DET1, COP1 ubiquitin ligase partner" 2004-12-13 2019-01-25 2023-01-20 55070 ENSG00000140543 OTTHUMG00000171851 uc002bmr.3 BC001242 NM_017996 "CCDS45343|CCDS45344" Q7L5Y6 14739464 MGI:1923625 RGD:1309793 608727 HGNC:25477 "ENST00000268148.13|NM_001144074.3" +HGNC:24264 DESI2 desumoylating isopeptidase 2 protein-coding gene gene with protein product Approved 1q44 01q44 "CGI-146|FLJ21998|PNAS-4|DESI-2" "C1orf121|FAM152A|PPPDE1" "chromosome 1 open reading frame 121|family with sequence similarity 152, member A|PPPDE peptidase domain containing 1" Desumoylating isopeptidases 986 2005-06-21 2012-05-16 2012-05-16 2023-01-20 51029 ENSG00000121644 OTTHUMG00000040398 uc001iao.4 AK025651 NM_016076 "CCDS73055|CCDS1626" Q9BSY9 "10810093|22370726" MGI:1926075 RGD:1359392 614638 HGNC:24264 "ENST00000302550.16|NM_016076.5" +HGNC:25477 DET1 DET1 partner of COP1 E3 ubiquitin ligase protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FLJ10103 "de-etiolated homolog 1 (Arabidopsis)|DET1, COP1 ubiquitin ligase partner" 2004-12-13 2019-01-25 2023-01-20 55070 ENSG00000140543 OTTHUMG00000171851 uc002bmr.3 BC001242 NM_017996 "CCDS45344|CCDS45343" Q7L5Y6 14739464 MGI:1923625 RGD:1309793 608727 HGNC:25477 "ENST00000268148.13|NM_001144074.3" HGNC:26344 DEUP1 deuterosome assembly protein 1 protein-coding gene gene with protein product Approved 11q21 11q21 FLJ25393 CCDC67 coiled-coil domain containing 67 2006-02-06 2016-06-29 2016-06-29 2023-01-20 159989 ENSG00000165325 OTTHUMG00000167441 uc001pdq.5 AK058122 NM_181645 CCDS44707 Q05D60 24240477 MGI:2443026 RGD:1306632 617148 HGNC:26344 "ENST00000298050.9|NM_181645.4" HGNC:13267 DEXI Dexi homolog protein-coding gene gene with protein product Approved 16p13.13 16p13.13 MYLE dexamethasone-induced transcript Dexi homolog (mouse) 2009-08-13 2016-03-31 2023-01-20 28955 ENSG00000182108 OTTHUMG00000129785 uc002dal.4 AF108145 NM_014015 CCDS10545 O95424 "11306815|11472984" MGI:1926236 RGD:1564938 617901 HGNC:13267 "ENST00000331808.5|NM_014015.4" HGNC:2772 DFFA DNA fragmentation factor subunit alpha protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "DFF-45|DFF45|ICAD|DFF1" DNA fragmentation factor, 45 kD, alpha subunit "DNA fragmentation factor, 45 kD, alpha polypeptide|DNA fragmentation factor, 45kDa, alpha polypeptide" 1997-10-27 2016-02-03 2023-01-20 1676 ENSG00000160049 OTTHUMG00000001909 uc001arj.4 AF087573 NM_004401 "CCDS119|CCDS118" O00273 "9605855|9108473" MGI:1196227 RGD:620334 601882 HGNC:2772 "ENST00000377038.8|NM_004401.3" @@ -6523,34 +6524,34 @@ HGNC:27451 DGAT2-DT DGAT2 divergent transcript non-coding RNA RNA, long non-codi HGNC:23250 DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "DC3|FLJ25989" Diacylglycerol O-acyltransferase 2 family 1235 2006-01-31 2016-03-14 2023-01-20 347516 ENSG00000184210 OTTHUMG00000021774 uc004dxx.2 AK129500 NM_198512 CCDS14397 Q6ZPD8 15671038 MGI:3045268 RGD:1596935 300926 HGNC:23250 "ENST00000333026.4|NM_198512.3" HGNC:44367 DGAT2L7P diacylglycerol O-acyltransferase 2 like 7, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 Diacylglycerol O-acyltransferase 2 family 1235 2012-09-06 2016-03-14 2016-03-14 646409 ENSG00000205267 NG_033274 14970677 HGNC:44367 HGNC:2844 DGCR DiGeorge syndrome chromosome region other region Approved 22q11.21-q11.23 22q11.21-q11.23 CATCH22 2001-06-22 2012-10-02 1714 -HGNC:2845 DGCR2 DiGeorge syndrome critical region gene 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "KIAA0163|LAN|IDD|DGS-C|SEZ-12" integral membrane protein DGCR2 C-type lectin domain containing 1298 2000-07-28 2023-01-20 9993 ENSG00000070413 OTTHUMG00000150141 uc062bkn.1 D79985 NM_005137 "CCDS54496|CCDS33598" P98153 "7655455|8630060" MGI:892866 RGD:1310567 600594 HGNC:2845 "ENST00000263196.12|NM_005137.3" HGNC:2845 +HGNC:2845 DGCR2 DiGeorge syndrome critical region gene 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "KIAA0163|LAN|IDD|DGS-C|SEZ-12" integral membrane protein DGCR2 C-type lectin domain containing 1298 2000-07-28 2023-01-20 9993 ENSG00000070413 OTTHUMG00000150141 uc062bkn.1 D79985 NM_005137 "CCDS33598|CCDS54496" P98153 "7655455|8630060" MGI:892866 RGD:1310567 600594 HGNC:2845 "ENST00000263196.12|NM_005137.3" HGNC:2845 HGNC:16757 DGCR5 DiGeorge syndrome critical region gene 5 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 "NCRNA00037|LINC00037|X91348|DGS-A|POM121L5P|DGS-B" "non-protein coding RNA 37|long intergenic non-protein coding RNA 37" "DGCR9|DGCR10" "DiGeorge syndrome critical region gene 5 (non-protein coding)|DiGeorge syndrome critical region gene 9|DiGeorge syndrome critical region gene 9 (non-protein coding)|DiGeorge syndrome critical region gene 10|DiGeorge syndrome critical region gene 10 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-04-22 2018-05-16 2021-11-12 26220 ENSG00000273032 OTTHUMG00000149977 uc002zon.3 X91348 NR_002733 "8659529|27898409|29030962" 618040 DGCR5 HGNC:16757 HGNC:2846 DGCR6 DiGeorge syndrome critical region gene 6 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2000-07-28 2023-01-20 8214 ENSG00000183628 OTTHUMG00000150162 uc002zoh.4 X96484 NM_005675 CCDS13753 Q14129 "8733130|15821931" MGI:1202877 RGD:1309390 601279 HGNC:2846 "ENST00000331444.12|NM_005675.6" HGNC:18551 DGCR6L DiGeorge syndrome critical region gene 6 like protein-coding gene gene with protein product Approved 22q11.21 22q11.21 FLJ10666 2002-05-08 2017-02-21 2023-01-20 85359 ENSG00000128185 OTTHUMG00000150583 uc002zrx.4 AF228708 NM_033257 CCDS13778 Q9BY27 "11157784|19778628" MGI:1202877 609459 HGNC:18551 "ENST00000248879.8|NM_033257.4" HGNC:2847 DGCR8 DGCR8 microprocessor complex subunit protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "DGCRK6|Gy1|pasha" C22orf12 "chromosome 22 open reading frame 12|DiGeorge syndrome critical region gene 8|DGCR8, microprocessor complex subunit" MicroRNA protein coding host genes 1691 2000-06-29 2019-01-25 2023-01-20 54487 ENSG00000128191 OTTHUMG00000150503 uc002zri.4 "AF165527|AB050770" NM_001190326 "CCDS54501|CCDS13773" Q8WYQ5 21454614 MGI:2151114 RGD:1306365 609030 HGNC:2847 "ENST00000351989.8|NM_022720.7" HGNC:17226 DGCR11 DiGeorge syndrome critical region gene 11 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 DGS-D "DiGeorge syndrome critical region gene 11|DiGeorge syndrome critical region gene 11 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-11-13 2018-05-16 2018-05-16 25786 ENSG00000273311 OTTHUMG00000186100 uc002zos.2 L77561 NR_024157 8776594 HGNC:17226 HGNC:2849 DGKA diacylglycerol kinase alpha protein-coding gene gene with protein product Approved 12q13.2 12q13.2 DGK-alpha "DAGK|DAGK1" "diacylglycerol kinase, alpha (80kD)|diacylglycerol kinase, alpha 80kDa" "EF-hand domain containing|Diacylglycerol kinases" "863|1178" 1991-08-21 2015-11-09 2023-01-20 1606 ENSG00000065357 OTTHUMG00000170109 uc001sij.4 AF064767 NM_001345 CCDS8896 P23743 "8180475|7959783" MGI:102952 RGD:70904 125855 2.7.1.107 HGNC:2849 "ENST00000331886.10|NM_001345.5" -HGNC:2850 DGKB diacylglycerol kinase beta protein-coding gene gene with protein product Approved 7p21.2 07p21.2 "KIAA0718|DGK|DGK-BETA" DAGK2 "diacylglycerol kinase, beta (90kD)|diacylglycerol kinase, beta 90kDa" "EF-hand domain containing|Diacylglycerol kinases" "863|1178" 2004-10-20 2015-11-09 2023-01-20 1607 ENSG00000136267 OTTHUMG00000152477 uc064bqu.1 AB018261 NM_004080 "CCDS87481|CCDS47547|CCDS87480|CCDS47548" Q9Y6T7 7689223 MGI:2442474 RGD:2488 604070 2.7.1.107 HGNC:2850 "ENST00000402815.6|NM_001350709.2" -HGNC:2851 DGKD diacylglycerol kinase delta protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "KIAA0145|DGKdelta" diglyceride kinase "diacylglycerol kinase, delta (130kD)|diacylglycerol kinase, delta 130kDa" "Pleckstrin homology domain containing|Sterile alpha motif domain containing|Diacylglycerol kinases" "682|760|1178" 1998-10-02 2015-11-09 2023-01-20 8527 ENSG00000077044 OTTHUMG00000133290 uc002vui.2 D63479 NM_003648 "CCDS46546|CCDS2504" Q16760 "8626538|12810723" MGI:2138334 RGD:1563309 601826 HGNC:2851 "ENST00000264057.7|NM_152879.3" +HGNC:2850 DGKB diacylglycerol kinase beta protein-coding gene gene with protein product Approved 7p21.2 07p21.2 "KIAA0718|DGK|DGK-BETA" DAGK2 "diacylglycerol kinase, beta (90kD)|diacylglycerol kinase, beta 90kDa" "EF-hand domain containing|Diacylglycerol kinases" "863|1178" 2004-10-20 2015-11-09 2023-01-20 1607 ENSG00000136267 OTTHUMG00000152477 uc064bqu.1 AB018261 NM_004080 "CCDS87480|CCDS87481|CCDS47547|CCDS47548" Q9Y6T7 7689223 MGI:2442474 RGD:2488 604070 2.7.1.107 HGNC:2850 "ENST00000402815.6|NM_001350709.2" +HGNC:2851 DGKD diacylglycerol kinase delta protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "KIAA0145|DGKdelta" diglyceride kinase "diacylglycerol kinase, delta (130kD)|diacylglycerol kinase, delta 130kDa" "Pleckstrin homology domain containing|Sterile alpha motif domain containing|Diacylglycerol kinases" "682|760|1178" 1998-10-02 2015-11-09 2023-01-20 8527 ENSG00000077044 OTTHUMG00000133290 uc002vui.2 D63479 NM_003648 "CCDS2504|CCDS46546" Q16760 "8626538|12810723" MGI:2138334 RGD:1563309 601826 HGNC:2851 "ENST00000264057.7|NM_152879.3" HGNC:2852 DGKE diacylglycerol kinase epsilon protein-coding gene gene with protein product Approved 17q22 17q22 "DAGK6|DGK" "diacylglycerol kinase, epsilon (64kD)|diacylglycerol kinase, epsilon 64kDa" Diacylglycerol kinases 1178 1998-10-02 2015-11-09 2023-01-20 8526 ENSG00000153933 OTTHUMG00000178121 uc002iur.4 U49379 NM_003647 CCDS11590 P52429 "8626589|10051413" MGI:1889276 RGD:1560914 601440 330780 2.7.1.107 HGNC:2852 "ENST00000284061.8|NM_003647.3" HGNC:2852 -HGNC:2853 DGKG diacylglycerol kinase gamma protein-coding gene gene with protein product Approved 3q27.2-q27.3 03q27.2-q27.3 DAGK3 "diacylglycerol kinase, gamma (90kD)|diacylglycerol kinase, gamma 90kDa" "EF-hand domain containing|Diacylglycerol kinases" "863|1178" 1994-09-06 2015-11-09 2023-01-20 1608 ENSG00000058866 OTTHUMG00000156617 uc003fqa.4 AF020945 NM_001080744 "CCDS43181|CCDS43182|CCDS3274" P49619 8034597 MGI:105060 RGD:2499 601854 2.7.1.107 HGNC:2853 "ENST00000265022.8|NM_001346.3" -HGNC:2854 DGKH diacylglycerol kinase eta protein-coding gene gene with protein product Approved 13q14.11 13q14.11 DGKeta "Pleckstrin homology domain containing|Sterile alpha motif domain containing|Diacylglycerol kinases" "682|760|1178" 2004-04-16 2016-01-14 2023-01-20 160851 ENSG00000102780 OTTHUMG00000016804 uc001uyl.3 AB078967 NM_178009 "CCDS9381|CCDS55899|CCDS9382|CCDS55898" Q86XP1 8702685 MGI:2444188 RGD:1561955 604071 HGNC:2854 "ENST00000337343.9|NM_178009.5" -HGNC:2855 DGKI diacylglycerol kinase iota protein-coding gene gene with protein product Approved 7q33 07q33 DGK-IOTA "Ankyrin repeat domain containing|Diacylglycerol kinases" "403|1178" 1998-12-01 2016-01-14 2023-01-20 9162 ENSG00000157680 OTTHUMG00000155697 uc003vtt.4 AF061936 NM_004717 "CCDS5845|CCDS83227|CCDS94213|CCDS94212" O75912 9830018 MGI:2443430 RGD:735049 604072 HGNC:2855 "ENST00000614521.2|NM_001321708.2" +HGNC:2853 DGKG diacylglycerol kinase gamma protein-coding gene gene with protein product Approved 3q27.2-q27.3 03q27.2-q27.3 DAGK3 "diacylglycerol kinase, gamma (90kD)|diacylglycerol kinase, gamma 90kDa" "EF-hand domain containing|Diacylglycerol kinases" "863|1178" 1994-09-06 2015-11-09 2023-01-20 1608 ENSG00000058866 OTTHUMG00000156617 uc003fqa.4 AF020945 NM_001080744 "CCDS43182|CCDS43181|CCDS3274" P49619 8034597 MGI:105060 RGD:2499 601854 2.7.1.107 HGNC:2853 "ENST00000265022.8|NM_001346.3" +HGNC:2854 DGKH diacylglycerol kinase eta protein-coding gene gene with protein product Approved 13q14.11 13q14.11 DGKeta "Pleckstrin homology domain containing|Sterile alpha motif domain containing|Diacylglycerol kinases" "682|760|1178" 2004-04-16 2016-01-14 2023-01-20 160851 ENSG00000102780 OTTHUMG00000016804 uc001uyl.3 AB078967 NM_178009 "CCDS9382|CCDS55898|CCDS55899|CCDS9381" Q86XP1 8702685 MGI:2444188 RGD:1561955 604071 HGNC:2854 "ENST00000337343.9|NM_178009.5" +HGNC:2855 DGKI diacylglycerol kinase iota protein-coding gene gene with protein product Approved 7q33 07q33 DGK-IOTA "Ankyrin repeat domain containing|Diacylglycerol kinases" "403|1178" 1998-12-01 2016-01-14 2023-01-20 9162 ENSG00000157680 OTTHUMG00000155697 uc003vtt.4 AF061936 NM_004717 "CCDS83227|CCDS94212|CCDS94213|CCDS5845" O75912 9830018 MGI:2443430 RGD:735049 604072 HGNC:2855 "ENST00000614521.2|NM_001321708.2" HGNC:32395 DGKK diacylglycerol kinase kappa protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 Diacylglycerol kinases 1178 2005-11-25 2016-01-14 2023-01-20 139189 ENSG00000274588 OTTHUMG00000021520 uc033edr.2 AB183864 NM_001013742 CCDS75980 Q5KSL6 16210324 MGI:3580254 RGD:1561510 300837 HGNC:32395 "ENST00000611977.2|NM_001013742.4" HGNC:2856 DGKQ diacylglycerol kinase theta protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "DAGK|DAGK7" DAGK4 "diacylglycerol kinase, theta (110kD)|diacylglycerol kinase, theta 110kDa" Diacylglycerol kinases 1178 1996-06-26 2015-11-09 2023-01-20 1609 ENSG00000145214 OTTHUMG00000088629 uc003gbw.5 L38707 NM_001347 CCDS3342 P52824 "8617502|9099683" MGI:102918 RGD:2320722 601207 HGNC:2856 "ENST00000273814.8|NM_001347.4" -HGNC:2857 DGKZ diacylglycerol kinase zeta protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DAGK5|hDGKzeta|DGK-ZETA|DAGK6" diacylglycerol kinase, zeta 104kDa "Ankyrin repeat domain containing|Diacylglycerol kinases|MicroRNA protein coding host genes" "403|1178|1691" 1998-10-02 2016-01-14 2023-01-20 8525 ENSG00000149091 OTTHUMG00000166437 uc001nch.2 U51477 NM_001105540 "CCDS44580|CCDS55758|CCDS55757|CCDS44579|CCDS41640|CCDS55759|CCDS7918" Q13574 8626588 MGI:1278339 RGD:70929 601441 2.7.1.107 HGNC:2857 "ENST00000456247.7|NM_001199267.2" +HGNC:2857 DGKZ diacylglycerol kinase zeta protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DAGK5|hDGKzeta|DGK-ZETA|DAGK6" diacylglycerol kinase, zeta 104kDa "Ankyrin repeat domain containing|Diacylglycerol kinases|MicroRNA protein coding host genes" "403|1178|1691" 1998-10-02 2016-01-14 2023-01-20 8525 ENSG00000149091 OTTHUMG00000166437 uc001nch.2 U51477 NM_001105540 "CCDS44580|CCDS55757|CCDS41640|CCDS7918|CCDS55758|CCDS55759|CCDS44579" Q13574 8626588 MGI:1278339 RGD:70929 601441 2.7.1.107 HGNC:2857 "ENST00000456247.7|NM_001199267.2" HGNC:39263 DGKZP1 diacylglycerol kinase zeta pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 2010-11-24 2016-01-14 2016-01-14 400126 ENSG00000179611 OTTHUMG00000016825 NG_005323 PGOHUM00000248578 HGNC:39263 -HGNC:20498 DGLUCY D-glutamate cyclase protein-coding gene gene with protein product Approved 14q32.11 14q32.11 FLJ39975 C14orf159 chromosome 14 open reading frame 159 Small nucleolar RNA protein coding host genes 1835 2003-10-02 2017-07-20 2017-07-20 2023-01-20 80017 ENSG00000133943 OTTHUMG00000164980 uc001xzb.4 AK097294 NM_024952 "CCDS73677|CCDS41979|CCDS66693|CCDS32141|CCDS45150" Q7Z3D6 "27907125|28266638" MGI:2444813 RGD:1311756 HGNC:20498 "ENST00000256324.15|NM_001102368.3" -HGNC:2858 DGUOK deoxyguanosine kinase protein-coding gene gene with protein product Approved 2p13.1 02p13.1 dGK Deoxyribonucleoside kinases 1699 1996-07-17 2023-03-15 1716 ENSG00000114956 OTTHUMG00000129819 uc002sjx.3 U41668 NM_001318859 "CCDS1931|CCDS1932" Q16854 8975728 MGI:1351602 RGD:1304799 601465 121059 2.7.1.113 HGNC:2858 "ENST00000264093.9|NM_080916.3" HGNC:2858 +HGNC:20498 DGLUCY D-glutamate cyclase protein-coding gene gene with protein product Approved 14q32.11 14q32.11 FLJ39975 C14orf159 chromosome 14 open reading frame 159 Small nucleolar RNA protein coding host genes 1835 2003-10-02 2017-07-20 2017-07-20 2023-01-20 80017 ENSG00000133943 OTTHUMG00000164980 uc001xzb.4 AK097294 NM_024952 "CCDS32141|CCDS73677|CCDS41979|CCDS45150|CCDS66693" Q7Z3D6 "27907125|28266638" MGI:2444813 RGD:1311756 HGNC:20498 "ENST00000256324.15|NM_001102368.3" +HGNC:2858 DGUOK deoxyguanosine kinase protein-coding gene gene with protein product Approved 2p13.1 02p13.1 dGK Deoxyribonucleoside kinases 1699 1996-07-17 2023-03-15 1716 ENSG00000114956 OTTHUMG00000129819 uc002sjx.3 U41668 NM_001318859 "CCDS1932|CCDS1931" Q16854 8975728 MGI:1351602 RGD:1304799 601465 121059 2.7.1.113 HGNC:2858 "ENST00000264093.9|NM_080916.3" HGNC:2858 HGNC:43441 DGUOK-AS1 DGUOK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p13.1 02p13.1 DGUOK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-10-28 2012-08-15 2012-10-12 100874048 ENSG00000237883 OTTHUMG00000152820 uc061ksa.1 NR_104029 DGUOK-AS1 HGNC:43441 HGNC:2860 DHCR7 7-dehydrocholesterol reductase protein-coding gene gene with protein product Approved 11q13.4 11q13.4 SLOS Smith-Lemli-Opitz syndrome 1998-04-27 2004-02-13 2023-01-20 1717 ENSG00000172893 OTTHUMG00000167346 uc001oql.4 AF034544 NM_001360 CCDS8200 Q9UBM7 "9465114|9634533" MGI:1298378 RGD:621769 LRG_340|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_340.xml 602858 121066 1.3.1.21 HGNC:2860 "ENST00000355527.8|NM_001360.3" HGNC:2860 -HGNC:56822 DHCR7-DT DHCR7 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 RP11-660L16.2 Divergent transcripts 1990 2023-05-04 2023-05-04 129810502 ENSG00000254682 +HGNC:56822 DHCR7-DT DHCR7 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 RP11-660L16.2 Divergent transcripts 1990 2023-05-04 2023-05-04 129810502 ENSG00000254682 NR_186309 HGNC:2859 DHCR24 24-dehydrocholesterol reductase protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "KIAA0018|seladin-1" Delta(24)-sterol reductase DCE desmosterol-to-cholesterol enzyme 1998-04-27 2023-01-20 1718 ENSG00000116133 OTTHUMG00000009989 uc001cyc.2 AF261758 NM_014762 CCDS600 Q15392 11519011 MGI:1922004 RGD:1306529 LRG_1272|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1272.xml 606418 121062 1.3.1.72 HGNC:2859 "ENST00000371269.9|NM_014762.4" HGNC:2859 HGNC:53969 DHCR24-DT DHCR24 divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Divergent transcripts 1990 2018-07-13 2018-07-13 107984958 ENSG00000233203 OTTHUMG00000009988 XR_001738059 HGNC:53969 -HGNC:20603 DHDDS dehydrodolichyl diphosphate synthase subunit protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "HDS|FLJ13102|DS|RP59|hCIT" dehydrodolichyl diphosphate synthase Dehydrodolichyl diphosphate synthase 1733 2003-05-22 2015-06-26 2023-01-20 79947 ENSG00000117682 OTTHUMG00000003554 uc001bmk.4 AK023164 NM_024887 "CCDS57983|CCDS57984|CCDS281|CCDS282" Q86SQ9 "12591616|28842490" MGI:1914672 RGD:1311560 608172 259361 HGNC:20603 "ENST00000236342.12|NM_205861.3" HGNC:20603 +HGNC:20603 DHDDS dehydrodolichyl diphosphate synthase subunit protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "HDS|FLJ13102|DS|RP59|hCIT" dehydrodolichyl diphosphate synthase Dehydrodolichyl diphosphate synthase 1733 2003-05-22 2015-06-26 2023-01-20 79947 ENSG00000117682 OTTHUMG00000003554 uc001bmk.4 AK023164 NM_024887 "CCDS57984|CCDS281|CCDS282|CCDS57983" Q86SQ9 "12591616|28842490" MGI:1914672 RGD:1311560 608172 259361 HGNC:20603 "ENST00000236342.12|NM_205861.3" HGNC:20603 HGNC:40925 DHDDS-AS1 DHDDS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Antisense RNAs 1987 2019-07-25 2019-07-25 101928324 ENSG00000225891 OTTHUMG00000003552 NR_125952 HGNC:40925 HGNC:17887 DHDH dihydrodiol dehydrogenase protein-coding gene gene with protein product Approved 19q13.33 19q13.33 HUM2DD trans-1,2-dihydrobenzene-1,2-diol dehydrogenase Gfo/Idh/MocA-like oxidoreductase domain containing 2241 2002-01-31 2016-02-15 2023-01-20 27294 ENSG00000104808 OTTHUMG00000165029 uc002ple.1 AB021933 NM_014475 CCDS12741 Q9UQ10 10477285 MGI:1919005 RGD:1588686 606377 1.3.1.20 HGNC:17887 "ENST00000221403.7|NM_014475.4" -HGNC:2861 DHFR dihydrofolate reductase protein-coding gene gene with protein product Approved 5q14.1 05q14.1 DHFR1 2001-06-22 2023-01-20 1719 ENSG00000228716 OTTHUMG00000162529 uc003kgy.2 NM_000791 "CCDS78028|CCDS47240|CCDS78029" P00374 MGI:94890 RGD:2500 126060 159526 objectId:2603 1.5.1.3 HGNC:2861 "ENST00000439211.7|NM_000791.4" HGNC:2861 +HGNC:2861 DHFR dihydrofolate reductase protein-coding gene gene with protein product Approved 5q14.1 05q14.1 DHFR1 2001-06-22 2023-01-20 1719 ENSG00000228716 OTTHUMG00000162529 uc003kgy.2 NM_000791 "CCDS78029|CCDS78028|CCDS47240" P00374 MGI:94890 RGD:2500 126060 159526 objectId:2603 1.5.1.3 HGNC:2861 "ENST00000439211.7|NM_000791.4" HGNC:2861 HGNC:27309 DHFR2 dihydrofolate reductase 2 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 FLJ16119 "DHFRP4|DHFRL1" "dihydrofolate reductase pseudogene 4|dihydrofolate reductase-like 1|dihydrofolate reductase like 1" 2005-02-07 2016-06-28 2016-06-28 2023-01-20 200895 ENSG00000178700 OTTHUMG00000159014 uc003drj.4 AL832912 NM_176815 CCDS2926 Q86XF0 "21876184|25980602" MGI:94890 616588 1.5.1.3 HGNC:27309 "ENST00000314636.3|NM_176815.5" HGNC:2862 DHFRP1 dihydrofolate reductase pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 hDHFR-psi 3 2001-06-22 2020-04-21 573971 ENSG00000188985 OTTHUMG00000179427 J00141 NG_000858 "6306253|6089182" MGI:94890 HGNC:2862 HGNC:2863 DHFRP2 dihydrofolate reductase pseudogene 2 pseudogene pseudogene Approved 6p21.33 06p21.33 hDHFR-psi 2 2001-06-22 2020-04-20 729816 ENSG00000228432 OTTHUMG00000031113 J00145 XR_015665.1 "6089182|6961421|3341383" PGOHUM00000301326 HGNC:2863 @@ -6559,17 +6560,17 @@ HGNC:52355 DHFRP5 dihydrofolate reductase pseudogene 5 pseudogene pseudogene App HGNC:52356 DHFRP6 dihydrofolate reductase pseudogene 6 pseudogene pseudogene Approved 6p12.1 06p12.1 2016-07-28 2020-04-06 109729123 ENSG00000219095 OTTHUMG00000014905 NG_052919 PGOHUM00000301395 HGNC:52356 HGNC:2865 DHH desert hedgehog signaling molecule protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "HHG-3|MGC35145" "desert hedgehog (Drosophila) homolog|desert hedgehog" Hedgehog signaling molecule family 1373 2000-04-28 2018-11-15 2023-01-20 50846 ENSG00000139549 OTTHUMG00000170408 uc001rtf.4 AB010994 NM_021044 CCDS8779 O43323 "10773676|10640830" MGI:94891 RGD:620711 LRG_1273|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1273.xml 605423 121069 C46.004 HGNC:2865 "ENST00000649637.2|NM_021044.4" HGNC:2865 HGNC:2867 DHODH dihydroorotate dehydrogenase (quinone) protein-coding gene gene with protein product Approved 16q22.2 16q22.2 dihydroorotate dehydrogenase 1993-06-29 2011-09-05 2023-01-20 1723 ENSG00000102967 OTTHUMG00000178093 uc002fbp.4 NM_001361 CCDS42192 Q02127 8211381 MGI:1928378 RGD:68352 126064 225386 objectId:2604 1.3.5.2 HGNC:2867 "ENST00000219240.9|NM_001361.5" HGNC:2867 -HGNC:2869 DHPS deoxyhypusine synthase protein-coding gene gene with protein product Approved 19p13.13 19p13.13 MIG13 migration-inducing gene 13 1995-12-12 2023-01-20 1725 ENSG00000095059 OTTHUMG00000182618 uc002muh.3 U79262 NM_001930 "CCDS12276|CCDS59354|CCDS12277" P49366 7673224 MGI:2683592 RGD:1303326 600944 HGNC:2869 "ENST00000210060.12|NM_001930.4" HGNC:2869 +HGNC:2869 DHPS deoxyhypusine synthase protein-coding gene gene with protein product Approved 19p13.13 19p13.13 MIG13 migration-inducing gene 13 1995-12-12 2023-01-20 1725 ENSG00000095059 OTTHUMG00000182618 uc002muh.3 U79262 NM_001930 "CCDS12277|CCDS59354|CCDS12276" P49366 7673224 MGI:2683592 RGD:1303326 600944 HGNC:2869 "ENST00000210060.12|NM_001930.4" HGNC:2869 HGNC:16445 DHRS1 dehydrogenase/reductase 1 protein-coding gene gene with protein product Approved 14q12 14q12 "FLJ25430|MGC20204|SDR19C1" short chain dehydrogenase/reductase family 19C, member 1 dehydrogenase/reductase (SDR family) member 1 Short chain dehydrogenase/reductase superfamily 743 2003-06-16 2016-05-27 2023-01-20 115817 ENSG00000157379 OTTHUMG00000029333 uc001wok.3 AK058159 NM_138452 CCDS9623 Q96LJ7 "12153138|19027726" MGI:1196314 RGD:1359172 610410 1.1.-.- HGNC:16445 "ENST00000288111.12|NM_001136050.3" HGNC:18349 DHRS2 dehydrogenase/reductase 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "HEP27|SDR25C1" short chain dehydrogenase/reductase family 25C, member 1 dehydrogenase/reductase (SDR family) member 2 Short chain dehydrogenase/reductase superfamily 743 2002-04-26 2016-05-27 2023-01-20 10202 ENSG00000100867 OTTHUMG00000028771 uc001wku.5 NM_182908 "CCDS41927|CCDS9604" Q13268 "7556196|11944995|16685466|19027726" MGI:1918662 RGD:1583909 615194 HGNC:18349 "ENST00000250383.11|NM_005794.4" HGNC:17693 DHRS3 dehydrogenase/reductase 3 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "retSDR1|Rsdr1|SDR1|RDH17|SDR16C1|CNALPTC1" "short chain dehydrogenase/reductase family 16C, member 1|copy number amplified long noncoding RNA in papillary thyroid cancer 1" dehydrogenase/reductase (SDR family) member 3 "Short chain dehydrogenase/reductase superfamily|MicroRNA protein coding host genes" "743|1691" 2003-12-02 2016-05-27 2023-05-15 9249 ENSG00000162496 OTTHUMG00000001885 uc031tpa.2 AF061741 NM_004753 CCDS146 O75911 "9705317|12226107|19027726" MGI:1315215 RGD:1305584 612830 1.1.1.300 HGNC:17693 "ENST00000616661.5|NM_004753.7" -HGNC:16985 DHRS4 dehydrogenase/reductase 4 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "SCAD-SRL|SDR-SRL|humNRDR|FLJ11008|SDR25C2" short chain dehydrogenase/reductase family 25C, member 2 dehydrogenase/reductase (SDR family) member 4 Short chain dehydrogenase/reductase superfamily 743 2002-12-09 2016-05-27 2023-01-20 10901 ENSG00000157326 OTTHUMG00000028777 uc001wla.5 AF044127 NM_001282987 "CCDS61412|CCDS61411|CCDS61409|CCDS61410|CCDS9605|CCDS61408|CCDS91852" Q9BTZ2 "10333503|19027726" MGI:90169 RGD:708482 611596 1.1.1.184 HGNC:16985 "ENST00000313250.10|NM_021004.4" +HGNC:16985 DHRS4 dehydrogenase/reductase 4 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "SCAD-SRL|SDR-SRL|humNRDR|FLJ11008|SDR25C2" short chain dehydrogenase/reductase family 25C, member 2 dehydrogenase/reductase (SDR family) member 4 Short chain dehydrogenase/reductase superfamily 743 2002-12-09 2016-05-27 2023-01-20 10901 ENSG00000157326 OTTHUMG00000028777 uc001wla.5 AF044127 NM_001282987 "CCDS61410|CCDS91852|CCDS61411|CCDS61409|CCDS61412|CCDS9605|CCDS61408" Q9BTZ2 "10333503|19027726" MGI:90169 RGD:708482 611596 1.1.1.184 HGNC:16985 "ENST00000313250.10|NM_021004.4" HGNC:23175 DHRS4-AS1 DHRS4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 "PRO1488|AS1DHRS4" C14orf167 "chromosome 14 open reading frame 167|DHRS4 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-09-29 2012-04-30 2012-08-16 2016-12-01 55449 ENSG00000215256 OTTHUMG00000171901 uc001wky.4 AF116636 NR_023921 Q9P1J3 "22891334|26864944" 616925 dhrs4-as1 DHRS4-AS1 HGNC:23175 HGNC:19732 DHRS4L1 dehydrogenase/reductase 4 like 1 (pseudogene) pseudogene pseudogene Approved 14q11.2 14q11.2 SDR25C4 short chain dehydrogenase/reductase family 25C, member 4 "dehydrogenase/reductase (SDR family) member 4 like 1|dehydrogenase/reductase 4 like 1" Short chain dehydrogenase/reductase superfamily 743 2003-01-13 2021-03-05 2021-03-05 728635 ENSG00000225766 OTTHUMG00000172193 NR_102687 P0CG22 "10333503|20525226|22891334" MGI:90169 615195 HGNC:19732 -HGNC:19731 DHRS4L2 dehydrogenase/reductase 4 like 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 SDR25C3 short chain dehydrogenase/reductase family 25C, member 3 dehydrogenase/reductase (SDR family) member 4 like 2 Short chain dehydrogenase/reductase superfamily 743 2003-01-13 2016-05-27 2023-01-20 317749 ENSG00000187630 OTTHUMG00000028778 uc058zud.1 NM_001193635 "CCDS73621|CCDS86376|CCDS9606" Q6PKH6 MGI:90169 615196 1.1.-.- HGNC:19731 "ENST00000335125.11|NM_198083.4" -HGNC:21524 DHRS7 dehydrogenase/reductase 7 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "retDSR4|SDR34C1" "retinal short-chain dehydrogenase/reductase 4|short chain dehydrogenase/reductase family 34C, member 1" dehydrogenase/reductase (SDR family) member 7 Short chain dehydrogenase/reductase superfamily 743 2003-12-02 2016-05-27 2023-01-20 51635 ENSG00000100612 OTTHUMG00000140331 uc001xes.5 AF151844 NM_016029 "CCDS81810|CCDS9743" Q9Y394 "10800688|10810093|19027726" MGI:1913625 RGD:1565002 612833 HGNC:21524 "ENST00000557185.6|NM_016029.4" -HGNC:24547 DHRS7B dehydrogenase/reductase 7B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DKFZp566O084|MGC8916|CGI-93|SDR32C1" short chain dehydrogenase/reductase family 32C, member 1 dehydrogenase/reductase (SDR family) member 7B Short chain dehydrogenase/reductase superfamily 743 2005-12-15 2016-05-27 2023-01-20 25979 ENSG00000109016 OTTHUMG00000178944 uc002gyo.4 BC004126 NM_015510 "CCDS82092|CCDS11215" Q6IAN0 "10810093|11230166|19027726" MGI:2384931 RGD:1311243 616160 HGNC:24547 "ENST00000395511.8|NM_015510.5" -HGNC:32423 DHRS7C dehydrogenase/reductase 7C protein-coding gene gene with protein product Approved 17p13.1 17p13.1 SDR32C2 short chain dehydrogenase/reductase family 32C, member 2 dehydrogenase/reductase (SDR family) member 7C Short chain dehydrogenase/reductase superfamily 743 2005-12-15 2016-05-27 2023-01-20 201140 ENSG00000184544 OTTHUMG00000177944 uc010vvb.2 NM_001220493 "CCDS56020|CCDS58517" A6NNS2 19027726 MGI:1915710 RGD:1306989 616161 HGNC:32423 "ENST00000571134.2|NM_001105571.3" +HGNC:19731 DHRS4L2 dehydrogenase/reductase 4 like 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 SDR25C3 short chain dehydrogenase/reductase family 25C, member 3 dehydrogenase/reductase (SDR family) member 4 like 2 Short chain dehydrogenase/reductase superfamily 743 2003-01-13 2016-05-27 2023-01-20 317749 ENSG00000187630 OTTHUMG00000028778 uc058zud.1 NM_001193635 "CCDS86376|CCDS73621|CCDS9606" Q6PKH6 MGI:90169 615196 1.1.-.- HGNC:19731 "ENST00000335125.11|NM_198083.4" +HGNC:21524 DHRS7 dehydrogenase/reductase 7 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "retDSR4|SDR34C1" "retinal short-chain dehydrogenase/reductase 4|short chain dehydrogenase/reductase family 34C, member 1" dehydrogenase/reductase (SDR family) member 7 Short chain dehydrogenase/reductase superfamily 743 2003-12-02 2016-05-27 2023-01-20 51635 ENSG00000100612 OTTHUMG00000140331 uc001xes.5 AF151844 NM_016029 "CCDS9743|CCDS81810" Q9Y394 "10800688|10810093|19027726" MGI:1913625 RGD:1565002 612833 HGNC:21524 "ENST00000557185.6|NM_016029.4" +HGNC:24547 DHRS7B dehydrogenase/reductase 7B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DKFZp566O084|MGC8916|CGI-93|SDR32C1" short chain dehydrogenase/reductase family 32C, member 1 dehydrogenase/reductase (SDR family) member 7B Short chain dehydrogenase/reductase superfamily 743 2005-12-15 2016-05-27 2023-01-20 25979 ENSG00000109016 OTTHUMG00000178944 uc002gyo.4 BC004126 NM_015510 "CCDS11215|CCDS82092" Q6IAN0 "10810093|11230166|19027726" MGI:2384931 RGD:1311243 616160 HGNC:24547 "ENST00000395511.8|NM_015510.5" +HGNC:32423 DHRS7C dehydrogenase/reductase 7C protein-coding gene gene with protein product Approved 17p13.1 17p13.1 SDR32C2 short chain dehydrogenase/reductase family 32C, member 2 dehydrogenase/reductase (SDR family) member 7C Short chain dehydrogenase/reductase superfamily 743 2005-12-15 2016-05-27 2023-01-20 201140 ENSG00000184544 OTTHUMG00000177944 uc010vvb.2 NM_001220493 "CCDS58517|CCDS56020" A6NNS2 19027726 MGI:1915710 RGD:1306989 616161 HGNC:32423 "ENST00000571134.2|NM_001105571.3" HGNC:16888 DHRS9 dehydrogenase/reductase 9 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "RDHL|3alpha-HSD|RETSDR8|RDH15|SDR9C4" "NADP-dependent retinol dehydrogenase/reductase|3-alpha hydroxysteroid dehydrogenase|retinol dehydrogenase homolog|short chain dehydrogenase/reductase family 9C, member 4" dehydrogenase/reductase (SDR family) member 9 Short chain dehydrogenase/reductase superfamily 743 2003-12-02 2016-05-27 2023-01-20 10170 ENSG00000073737 OTTHUMG00000132180 uc061phg.1 AF067174 NM_005771 "CCDS2231|CCDS74600" Q9BPW9 "11304534|11294878|19027726" MGI:2442798 RGD:620655 612131 HGNC:16888 "ENST00000674881.1|NM_001376924.1" HGNC:28639 DHRS11 dehydrogenase/reductase 11 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC4172|SDR24C1" short chain dehydrogenase/reductase family 24C, member 1 dehydrogenase/reductase (SDR family) member 11 Short chain dehydrogenase/reductase superfamily 743 2008-11-21 2016-05-27 2023-01-20 79154 ENSG00000278535 OTTHUMG00000188442 uc032ggx.3 NM_024308 CCDS11315 Q6UWP2 "12975309|19027726" MGI:2652816 RGD:1307935 616159 HGNC:28639 "ENST00000618403.5|NM_024308.4" HGNC:25832 DHRS12 dehydrogenase/reductase 12 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "FLJ13639|SDR40C1" short chain dehydrogenase/reductase family 40C, member 1 dehydrogenase/reductase (SDR family) member 12 Short chain dehydrogenase/reductase superfamily 743 2006-08-08 2016-05-27 2023-01-20 79758 ENSG00000102796 OTTHUMG00000016952 uc001vfq.5 AK023701 NM_024705 "CCDS31976|CCDS91809|CCDS58292|CCDS9430" A0PJE2 19027726 616163 HGNC:25832 "ENST00000444610.8|NM_001377533.1" @@ -6577,7 +6578,7 @@ HGNC:28326 DHRS13 dehydrogenase/reductase 13 protein-coding gene gene with prote HGNC:18399 DHRSX dehydrogenase/reductase X-linked protein-coding gene gene with protein product Approved Xp22.33 and Yp11.2 Xp22.33 and Yp11.2 "DHRS5X|DHRSXY|DHRSY|DHRS5Y|SDR46C1|SDR7C6" "short chain dehydrogenase/reductase family 7C, member 6|short chain dehydrogenase/reductase family 46C, member 1|dehydrogenase/reductase (SDR family) Y-linked" dehydrogenase/reductase (SDR family) X chromosome "Pseudoautosomal region 1|Short chain dehydrogenase/reductase superfamily" "715|743" 2002-03-18 2016-05-27 2023-01-20 207063 ENSG00000169084 OTTHUMG00000021068 uc004fps.5 AJ293620 NM_145177 CCDS35195 Q8N5I4 "11731500|19027726" MGI:2181510 RGD:1305017 301034 HGNC:18399 "ENST00000334651.11|NM_145177.3" HGNC:38713 DHRSX-IT1 DHRSX intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xp22.33 and Yp11 Xp22.33 and Yp11 DHRSX-IT DHRSXIT1 DHRSX intronic transcript 1 (non-protein coding) "Pseudoautosomal region 1|Intronic transcripts" "715|1989" 2010-07-28 2011-03-23 2015-02-25 2015-02-25 106478924 ENSG00000223571 OTTHUMG00000067406 uc065coo.1 DHRSX-IT1 HGNC:23537 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 protein-coding gene gene with protein product Approved 10p14 10p14 "KIAA1630|MGC3090|DKFZP762M115|CMT2Q" Oxoglutarate dehydrogenase family 1666 2003-11-24 2023-01-20 55526 ENSG00000181192 OTTHUMG00000017677 uc001ild.6 BC002477 NM_018706 CCDS7087 Q96HY7 10997877 MGI:2445096 RGD:1308092 614984 320765 HGNC:23537 "ENST00000263035.9|NM_018706.7" HGNC:23537 -HGNC:2749 DHX8 DEAH-box helicase 8 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "HRH1|Prp22|PRPF22|Dhr2" DDX8 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)|DEAH (Asp-Glu-Ala-His) box polypeptide 8" "DEAH-box helicases|SSU processome|Spliceosomal C complex|Spliceosomal P complex" "500|1484|1510|1516" 1995-12-20 2003-06-20 2016-01-07 2023-03-20 1659 ENSG00000067596 OTTHUMG00000180883 uc002idu.2 D50487 NM_001302623 "CCDS11464|CCDS92330|CCDS77040" Q14562 7935475 MGI:1306823 RGD:1310723 600396 HGNC:2749 "ENST00000262415.8|NM_004941.3" +HGNC:2749 DHX8 DEAH-box helicase 8 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "HRH1|Prp22|PRPF22|Dhr2" DDX8 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)|DEAH (Asp-Glu-Ala-His) box polypeptide 8" "DEAH-box helicases|SSU processome|Spliceosomal C complex|Spliceosomal P complex" "500|1484|1510|1516" 1995-12-20 2003-06-20 2016-01-07 2023-03-20 1659 ENSG00000067596 OTTHUMG00000180883 uc002idu.2 D50487 NM_001302623 "CCDS77040|CCDS92330|CCDS11464" Q14562 7935475 MGI:1306823 RGD:1310723 600396 HGNC:2749 "ENST00000262415.8|NM_004941.3" HGNC:2750 DHX9 DExH-box helicase 9 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 RHA "NDH II|RNA helicase A|leukophysin|nuclear DNA helicase II" "LKP|DDX9" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9|DEAH (Asp-Glu-Ala-His) box helicase 9" DEAH-box helicases 500 1995-12-11 2003-06-20 2016-09-27 2023-01-20 1660 ENSG00000135829 OTTHUMG00000035337 uc001gpr.4 L13848 NM_030588 CCDS41444 Q08211 "8344961|9111062" MGI:108177 RGD:1308548 603115 HGNC:2750 "ENST00000367549.4|NM_001357.5" HGNC:56097 DHX9-AS1 DHX9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Antisense RNAs 1987 2022-01-05 2022-01-05 647070 ENSG00000287808 NR_148933 HGNC:2751 DHX9P1 DEAH-box helicase 9 pseudogene 1 pseudogene pseudogene Approved 13q22.3 13q22.3 "DDX9P|DHX9P" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A) pseudogene|DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene|DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 1" 1997-01-08 2010-02-24 2016-01-07 2016-10-05 1661 ENSG00000228002 OTTHUMG00000017101 NG_002657 9325059 HGNC:2751 @@ -6589,63 +6590,63 @@ HGNC:16717 DHX32 DEAH-box helicase 32 (putative) protein-coding gene gene with p HGNC:16718 DHX33 DEAH-box helicase 33 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FLJ21972|DKFZp762F2011" DDX33 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33|DEAH (Asp-Glu-Ala-His) box polypeptide 33" DEAH-box helicases 500 2001-11-27 2003-06-13 2016-01-07 2023-01-20 56919 ENSG00000005100 OTTHUMG00000102041 uc002gca.3 AL359945 NM_020162 CCDS11072 Q9H6R0 MGI:2445102 RGD:1307239 614405 HGNC:16718 "ENST00000225296.8|NM_020162.4" HGNC:52937 DHX33-DT DHX33 divergent transcript non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Divergent transcripts 1990 2019-06-17 2019-06-17 105371506 ENSG00000262099 OTTHUMG00000177876 NR_135644 HGNC:52937 HGNC:16719 DHX34 DExH-box helicase 34 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 KIAA0134 DDX34 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34|DEAH-box helicase 34" "DEAH-box helicases|SURF complex|DECID complex" "500|1963|1964" 2001-11-27 2003-06-13 2016-09-27 2023-03-15 9704 ENSG00000134815 OTTHUMG00000149959 uc010xyn.2 D50924 NM_014681 CCDS12700 Q14147 "10708517|8590280" MGI:1918973 RGD:1584452 615475 HGNC:16719 "ENST00000328771.9|NM_014681.6" HGNC:16719 -HGNC:15861 DHX35 DEAH-box helicase 35 protein-coding gene gene with protein product Approved 20q11.23-q12 20q11.23-q12 "FLJ22759|KAIA0875" "C20orf15|DDX35" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35|DEAH (Asp-Glu-Ala-His) box polypeptide 35" "DEAH-box helicases|Spliceosomal C complex" "500|1510" 2001-11-27 2003-06-13 2016-01-07 2023-01-20 60625 ENSG00000101452 OTTHUMG00000032463 uc002xjh.4 AK026412 NM_021931 "CCDS54463|CCDS13310" Q9H5Z1 MGI:1918965 RGD:1311165 HGNC:15861 "ENST00000252011.8|NM_021931.4" +HGNC:15861 DHX35 DEAH-box helicase 35 protein-coding gene gene with protein product Approved 20q11.23-q12 20q11.23-q12 "FLJ22759|KAIA0875" "C20orf15|DDX35" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35|DEAH (Asp-Glu-Ala-His) box polypeptide 35" "DEAH-box helicases|Spliceosomal C complex" "500|1510" 2001-11-27 2003-06-13 2016-01-07 2023-01-20 60625 ENSG00000101452 OTTHUMG00000032463 uc002xjh.4 AK026412 NM_021931 "CCDS13310|CCDS54463" Q9H5Z1 MGI:1918965 RGD:1311165 HGNC:15861 "ENST00000252011.8|NM_021931.4" HGNC:55365 DHX35-DT DHX35 divergent transcript non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 Divergent transcripts 1990 2020-11-11 2020-11-11 119545624 ENSG00000261431 HGNC:14410 DHX36 DEAH-box helicase 36 protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "MLEL1|KIAA1488|RHAU" RNA helicase associated with AU-rich element DDX36 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36|DEAH (Asp-Glu-Ala-His) box polypeptide 36" "DEAH-box helicases|DNA helicases" "500|1167" 2001-11-23 2003-06-20 2016-01-07 2023-01-20 170506 ENSG00000174953 OTTHUMG00000159109 uc003ezy.5 AF217190 NM_020865 "CCDS3171|CCDS54657" Q9H2U1 MGI:1919412 RGD:1308767 612767 HGNC:14410 "ENST00000496811.6|NM_020865.3" HGNC:17210 DHX37 DEAH-box helicase 37 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA1517|MGC4322|MGC2695|Dhr1" DDX37 "DEAD/DEAH box helicase DDX37|DEAH (Asp-Glu-Ala-His) box polypeptide 37" "DEAH-box helicases|SSU processome" "500|1484" 2001-11-21 2003-06-20 2016-01-07 2023-01-20 57647 ENSG00000150990 OTTHUMG00000168547 uc001ugy.4 AB040950 NM_032656 CCDS9261 Q8IY37 10819331 MGI:3028576 RGD:1306837 617362 HGNC:17210 "ENST00000308736.7|NM_032656.4" HGNC:17210 HGNC:17211 DHX38 DEAH-box helicase 38 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "Prp16|KIAA0224|hPrp16|PRPF16" DDX38 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38|DEAH (Asp-Glu-Ala-His) box polypeptide 38" DEAH-box helicases 500 2001-12-11 2003-06-20 2016-01-07 2023-03-20 9785 ENSG00000140829 OTTHUMG00000137596 uc002fcb.4 AF038391 NM_014003 CCDS10907 Q92620 "9524131|9039502" MGI:1927617 RGD:1310345 605584 470184 HGNC:17211 "ENST00000268482.8|NM_014003.4" HGNC:17211 -HGNC:18018 DHX40 DEAH-box helicase 40 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "ARG147|PAD|FLJ22060" DDX40 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)|DEAH (Asp-Glu-Ala-His) box polypeptide 40" "DEAH-box helicases|NTC associated proteins" "500|1498" 2002-02-05 2003-06-20 2016-01-07 2023-01-20 79665 ENSG00000108406 OTTHUMG00000179401 uc002ixn.3 AF260270 NM_024612 "CCDS11617|CCDS54150" Q8IX18 MGI:1914737 RGD:1359618 607570 HGNC:18018 "ENST00000251241.9|NM_024612.5" +HGNC:18018 DHX40 DEAH-box helicase 40 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "ARG147|PAD|FLJ22060" DDX40 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)|DEAH (Asp-Glu-Ala-His) box polypeptide 40" "DEAH-box helicases|NTC associated proteins" "500|1498" 2002-02-05 2003-06-20 2016-01-07 2023-01-20 79665 ENSG00000108406 OTTHUMG00000179401 uc002ixn.3 AF260270 NM_024612 "CCDS54150|CCDS11617" Q8IX18 MGI:1914737 RGD:1359618 607570 HGNC:18018 "ENST00000251241.9|NM_024612.5" HGNC:20687 DHX40P1 DEAH-box helicase 40 pseudogene 1 pseudogene pseudogene Approved 17q23.1 17q23.1 DHX40P "DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene|DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene 1" 2005-12-20 2010-02-25 2016-01-07 2016-10-05 107133522 ENSG00000266992 OTTHUMG00000179979 BC029885 NG_046682 HGNC:20687 HGNC:20086 DHX57 DExH-box helicase 57 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 DDX57 DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 DEAH-box helicases 500 2003-06-13 2016-09-27 2023-01-20 90957 ENSG00000163214 OTTHUMG00000102103 uc002rrf.5 AF070590 NM_145646 CCDS1800 Q6P158 MGI:2147067 RGD:1310340 HGNC:20086 "ENST00000457308.6|NM_198963.3" HGNC:29517 DHX58 DExH-box helicase 58 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "LGP2|D11LGP2" RNA helicase LGP2 DEXH (Asp-Glu-X-His) box polypeptide 58 DEAH-box helicases 500 2007-06-20 2016-09-27 2023-01-20 79132 ENSG00000108771 OTTHUMG00000133493 uc002hyw.5 BC014949 NM_024119 CCDS11416 Q96C10 11735219 MGI:1931560 RGD:1310093 608588 objectId:2922 HGNC:29517 "ENST00000251642.8|NM_024119.3" HGNC:21528 DIABLO diablo IAP-binding mitochondrial protein protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SMAC|DIABLO-S|FLJ25049|FLJ10537|DFNA64" second mitochondria-derived activator of caspase diablo, IAP-binding mitochondrial protein 2003-10-27 2016-03-08 2023-03-15 56616 ENSG00000184047 OTTHUMG00000157014 uc010tab.4 AF262240 NM_019887 "CCDS9228|CCDS73541|CCDS9229" Q9NR28 "12749848|17237824|21722859" MGI:1913843 RGD:1310885 605219 270442 HGNC:21528 "ENST00000464942.7|NM_001371333.1" HGNC:21528 -HGNC:2876 DIAPH1 diaphanous related formin 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "hDIA1|LFHL1|mDia1" mammalian diaphanous related formin 1 DFNA1 "diaphanous (Drosophila, homolog) 1|diaphanous homolog 1 (Drosophila)" "Armadillo like helical domain containing|Formins" "1492|2006" 1998-03-17 2015-11-18 2023-01-20 1729 ENSG00000131504 OTTHUMG00000149893 uc063iba.1 BC007411 NM_005219 "CCDS87331|CCDS43373|CCDS43374" O60610 "9360932|1350680" MGI:1194490 RGD:1310707 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_1117|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1117.xml" 602121 121073 HGNC:2876 "ENST00000389054.8|NM_005219.5" HGNC:2876 +HGNC:2876 DIAPH1 diaphanous related formin 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "hDIA1|LFHL1|mDia1" mammalian diaphanous related formin 1 DFNA1 "diaphanous (Drosophila, homolog) 1|diaphanous homolog 1 (Drosophila)" "Armadillo like helical domain containing|Formins" "1492|2006" 1998-03-17 2015-11-18 2023-01-20 1729 ENSG00000131504 OTTHUMG00000149893 uc063iba.1 BC007411 NM_005219 "CCDS43373|CCDS87331|CCDS43374" O60610 "9360932|1350680" MGI:1194490 RGD:1310707 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_1117|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1117.xml" 602121 121073 HGNC:2876 "ENST00000389054.8|NM_005219.5" HGNC:2876 HGNC:40177 DIAPH1-AS1 DIAPH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 Antisense RNAs 1987 2019-07-25 2019-07-25 100505658 ENSG00000246422 OTTHUMG00000164151 NR_038333 HGNC:40177 HGNC:2877 DIAPH2 diaphanous related formin 2 protein-coding gene gene with protein product Approved Xq21.33 Xq21.33 "POF|DIA|POF2|DIA2" Premature ovarian failure 2A "diaphanous (Drosophila, homolog) 2|diaphanous homolog 2 (Drosophila)" "Armadillo like helical domain containing|Formins" "1492|2006" 1998-03-17 2015-11-18 2023-01-20 1730 ENSG00000147202 OTTHUMG00000022689 uc004efu.5 Y15909 "NM_006729|NM_007309" "CCDS14468|CCDS14467" O60879 9360932 MGI:1858500 RGD:1564399 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DIAPH2 300108 121078 HGNC:2877 "ENST00000324765.13|NM_006729.5" HGNC:16972 DIAPH2-AS1 DIAPH2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq21.33 Xq21.33 DIAPH2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-10 2012-08-15 2016-10-05 10824 ENSG00000236256 OTTHUMG00000021989 uc065afh.1 NR_125391 Q14236 "8133036|7736777" 300347 DIAPH2-AS1 HGNC:16972 -HGNC:15480 DIAPH3 diaphanous related formin 3 protein-coding gene gene with protein product Approved 13q21.2 13q21.2 "DRF3|FLJ34705|AN|NSDAN" AUNA1 "diaphanous (Drosophila, homolog) 3|auditory neuropathy, autosomal dominant 1|diaphanous homolog 3 (Drosophila)" "Armadillo like helical domain containing|Formins" "1492|2006" 2001-05-02 2015-11-18 2023-01-20 81624 ENSG00000139734 OTTHUMG00000017004 uc001vht.6 AL137718 NM_001042517 "CCDS41898|CCDS58295|CCDS58297|CCDS58296|CCDS73579|CCDS58294|CCDS73580" Q9NSV4 "14767582|20624953" MGI:1927222 RGD:1593287 614567 304486 HGNC:15480 "ENST00000400324.9|NM_001042517.2" HGNC:15480 +HGNC:15480 DIAPH3 diaphanous related formin 3 protein-coding gene gene with protein product Approved 13q21.2 13q21.2 "DRF3|FLJ34705|AN|NSDAN" AUNA1 "diaphanous (Drosophila, homolog) 3|auditory neuropathy, autosomal dominant 1|diaphanous homolog 3 (Drosophila)" "Armadillo like helical domain containing|Formins" "1492|2006" 2001-05-02 2015-11-18 2023-01-20 81624 ENSG00000139734 OTTHUMG00000017004 uc001vht.6 AL137718 NM_001042517 "CCDS58295|CCDS58294|CCDS41898|CCDS73579|CCDS58296|CCDS58297|CCDS73580" Q9NSV4 "14767582|20624953" MGI:1927222 RGD:1593287 614567 304486 HGNC:15480 "ENST00000400324.9|NM_001042517.2" HGNC:15480 HGNC:39915 DIAPH3-AS1 DIAPH3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q21.2 13q21.2 DIAPH3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874195 ENSG00000227528 OTTHUMG00000017002 uc031qlx.3 NR_046539 DIAPH3-AS1 HGNC:39915 HGNC:39916 DIAPH3-AS2 DIAPH3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q21.2 13q21.2 DIAPH3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-06-13 2012-08-15 2014-11-19 100874196 ENSG00000223815 OTTHUMG00000017003 uc031qma.1 NR_046540 DIAPH3-AS2 HGNC:39916 -HGNC:17098 DICER1 dicer 1, ribonuclease III protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "Dicer|KIAA0928|K12H4.8-LIKE|HERNA" dicer 1, double-stranded RNA-specific endoribonuclease MNG1 "Dicer1, Dcr-1 homolog (Drosophila)|multinodular goitre 1|dicer 1, ribonuclease type III" "RNA helicases|Endoribonucleases|MicroRNA protein coding host genes|RISC loading complex" "1168|1687|1691|1776" 2002-05-09 2016-03-24 2023-01-20 23405 ENSG00000100697 OTTHUMG00000166134 uc001ydw.3 AB028449 NM_030621 "CCDS9931|CCDS55941|CCDS91926" Q9UPY3 "10051563|10786632|21205968" MGI:2177178 RGD:1309381 LRG_492|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_492.xml DICER1 606241 209285 HGNC:17098 "ENST00000343455.8|NM_177438.3" HGNC:17098 +HGNC:17098 DICER1 dicer 1, ribonuclease III protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "Dicer|KIAA0928|K12H4.8-LIKE|HERNA" dicer 1, double-stranded RNA-specific endoribonuclease MNG1 "Dicer1, Dcr-1 homolog (Drosophila)|multinodular goitre 1|dicer 1, ribonuclease type III" "RNA helicases|Endoribonucleases|MicroRNA protein coding host genes|RISC loading complex" "1168|1687|1691|1776" 2002-05-09 2016-03-24 2023-01-20 23405 ENSG00000100697 OTTHUMG00000166134 uc001ydw.3 AB028449 NM_030621 "CCDS91926|CCDS9931|CCDS55941" Q9UPY3 "10051563|10786632|21205968" MGI:2177178 RGD:1309381 LRG_492|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_492.xml DICER1 606241 209285 HGNC:17098 "ENST00000343455.8|NM_177438.3" HGNC:17098 HGNC:43017 DICER1-AS1 DICER1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.13 14q32.13 FLJ45244 DICER1 antisense RNA (non-protein coding) DICER1-AS DICER1 antisense RNA (non-protein coding) Antisense RNAs 1987 2011-09-16 2012-01-25 2012-08-15 2023-03-15 400242 ENSG00000235706 OTTHUMG00000150190 uc059eud.1 BC040596 NR_015415 29772430 DICER1-AS1 HGNC:43017 -HGNC:2680 DIDO1 death inducer-obliterator 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "DIO1|dJ885L7.8|FLJ11265|KIAA0333|DIO-1|BYE1" "C20orf158|DATF1" "chromosome 20 open reading frame 158|death associated transcription factor 1" PHD finger proteins 88 1999-12-17 2005-11-11 2005-11-11 2023-01-20 11083 ENSG00000101191 OTTHUMG00000032945 uc002ydt.3 AB002331 NM_080796 "CCDS13509|CCDS33506|CCDS13508" Q9BTC0 10393935 MGI:1344352 RGD:1311173 604140 470188 HGNC:2680 "ENST00000395343.6|NM_001193369.2" -HGNC:30217 DIMT1 DIM1 rRNA methyltransferase and ribosome maturation factor protein-coding gene gene with protein product Approved 5q12.1 05q12.1 HSA9761 DIMT1L "DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)|DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)|DIMT1 rRNA methyltransferase and ribosome maturation factor" "Ribosomal biogenesis factors|7BS N6-adenosine DNA/RNA methyltransferases" "1729|2061" 2006-08-11 2011-08-11 2021-05-20 2023-01-20 27292 ENSG00000086189 OTTHUMG00000131223 uc003jta.4 AF102147 NM_014473 "CCDS3981|CCDS87298" Q9UNQ2 "11124703|25851604" MGI:1913504 RGD:1311752 612499 2.1.1.183 HGNC:30217 "ENST00000199320.9|NM_014473.4" +HGNC:2680 DIDO1 death inducer-obliterator 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "DIO1|dJ885L7.8|FLJ11265|KIAA0333|DIO-1|BYE1" "C20orf158|DATF1" "chromosome 20 open reading frame 158|death associated transcription factor 1" PHD finger proteins 88 1999-12-17 2005-11-11 2005-11-11 2023-01-20 11083 ENSG00000101191 OTTHUMG00000032945 uc002ydt.3 AB002331 NM_080796 "CCDS33506|CCDS13508|CCDS13509" Q9BTC0 10393935 MGI:1344352 RGD:1311173 604140 470188 HGNC:2680 "ENST00000395343.6|NM_001193369.2" +HGNC:30217 DIMT1 DIM1 rRNA methyltransferase and ribosome maturation factor protein-coding gene gene with protein product Approved 5q12.1 05q12.1 HSA9761 DIMT1L "DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)|DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)|DIMT1 rRNA methyltransferase and ribosome maturation factor" "Ribosomal biogenesis factors|7BS N6-adenosine DNA/RNA methyltransferases" "1729|2061" 2006-08-11 2011-08-11 2021-05-20 2023-01-20 27292 ENSG00000086189 OTTHUMG00000131223 uc003jta.4 AF102147 NM_014473 "CCDS87298|CCDS3981" Q9UNQ2 "11124703|25851604" MGI:1913504 RGD:1311752 612499 2.1.1.183 HGNC:30217 "ENST00000199320.9|NM_014473.4" HGNC:52892 DIMT1P1 DIM1 dimethyladenosine transferase 1 homolog pseudogene 1 pseudogene pseudogene Approved 3q13.13 03q13.13 2016-12-16 2016-12-16 100422385 ENSG00000271249 OTTHUMG00000184360 NG_025608 PGOHUM00000299125 HGNC:52892 HGNC:53146 DINOL damage induced long noncoding RNA non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 DINO damage induced noncoding Long non-coding RNAs with non-systematic symbols 1992 2017-06-08 2020-01-06 108783646 ENSG00000285244 JX993265 NR_144384 27668660 HGNC:53146 -HGNC:2883 DIO1 iodothyronine deiodinase 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "thyroxine 5'-deiodinase|type I iodothyronine deiodinase|selenoprotein DIO1" TXDI1 deiodinase, iodothyronine type I Selenoproteins 890 1993-12-14 2016-10-13 2023-01-20 1733 ENSG00000211452 OTTHUMG00000008435 uc021onq.2 NM_000792 "CCDS81328|CCDS30722|CCDS41340|CCDS41339|CCDS53320" P49895 8964838 MGI:94896 RGD:2504 147892 470186 objectId:2481 1.21.99.4 HGNC:2883 "ENST00000361921.8|NM_000792.7" +HGNC:2883 DIO1 iodothyronine deiodinase 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "thyroxine 5'-deiodinase|type I iodothyronine deiodinase|selenoprotein DIO1" TXDI1 deiodinase, iodothyronine type I Selenoproteins 890 1993-12-14 2016-10-13 2023-01-20 1733 ENSG00000211452 OTTHUMG00000008435 uc021onq.2 NM_000792 "CCDS53320|CCDS30722|CCDS41339|CCDS41340|CCDS81328" P49895 8964838 MGI:94896 RGD:2504 147892 470186 objectId:2481 1.21.99.4 HGNC:2883 "ENST00000361921.8|NM_000792.7" HGNC:2884 DIO2 iodothyronine deiodinase 2 protein-coding gene gene with protein product Approved 14q31.1 14q31.1 "TXDI2|SelY|SELENOY" "thyroxine deiodinase, type II|deiodonase-2|deiodinase-2|selenoprotein Y" deiodinase, iodothyronine type II Selenoproteins 890 1997-05-09 2016-10-13 2023-03-15 1734 ENSG00000211448 OTTHUMG00000171443 uc010asy.4 AF007144 NM_000793 CCDS45146 Q92813 "8755651|10343107" MGI:1338833 RGD:68418 601413 470190 objectId:2482 1.21.99.4 HGNC:2884 "ENST00000438257.9|NM_013989.5" HGNC:44153 DIO2-AS1 DIO2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q31.1 14q31.1 DIO2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100628307 ENSG00000258766 OTTHUMG00000171497 uc001xuw.2 BC039670 NR_038355 DIO2-AS1 HGNC:44153 HGNC:2885 DIO3 iodothyronine deiodinase 3 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "thyroxine 5-deiodinase|selenoprotein DIO3" TXDI3 deiodinase, iodothyronine type III Selenoproteins 890 1996-04-09 2016-10-13 2023-01-20 1735 ENSG00000197406 OTTHUMG00000160681 uc021sdx.1 S79854 NM_001362 CCDS41992 P55073 "9787088|7593630" MGI:1306782 RGD:68420 601038 470192 objectId:2483 1.21.99.3 HGNC:2885 HGNC:20348 DIO3OS DIO3 opposite strand upstream RNA non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 "NCRNA00041|DIO3-AS1" non-protein coding RNA 41 C14orf134 "chromosome 14 open reading frame 134|deiodinase, iodothyronine, type III opposite strand|DIO3 opposite strand/antisense RNA|DIO3 opposite strand/antisense RNA (head to head)" Long non-coding RNAs with non-systematic symbols 1992 2003-01-28 2011-11-14 2018-03-22 2018-08-17 64150 ENSG00000258498 OTTHUMG00000171682 uc059fic.1 AF305836 NR_002770 14962667 MGI:2664395 RGD:7653627 608523 Dio3os DIO3OS HGNC:20348 -HGNC:17217 DIP2A disco interacting protein 2 homolog A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "Dip2|KIAA0184" C21orf106 "chromosome 21 open reading frame 106|DIP2 disco-interacting protein 2 homolog A (Drosophila)" 2003-12-15 2006-01-13 2015-11-23 2023-03-15 23181 ENSG00000160305 OTTHUMG00000090717 uc002zjo.3 AF490768 NM_015151 "CCDS54490|CCDS46655|CCDS54491|CCDS46656|CCDS46657|CCDS93110" Q14689 MGI:2385920 RGD:1582897 607711 HGNC:17217 "ENST00000417564.3|NM_015151.4" HGNC:17217 +HGNC:17217 DIP2A disco interacting protein 2 homolog A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "Dip2|KIAA0184" C21orf106 "chromosome 21 open reading frame 106|DIP2 disco-interacting protein 2 homolog A (Drosophila)" 2003-12-15 2006-01-13 2015-11-23 2023-03-15 23181 ENSG00000160305 OTTHUMG00000090717 uc002zjo.3 AF490768 NM_015151 "CCDS54490|CCDS54491|CCDS46656|CCDS46655|CCDS46657|CCDS93110" Q14689 MGI:2385920 RGD:1582897 607711 HGNC:17217 "ENST00000417564.3|NM_015151.4" HGNC:17217 HGNC:41430 DIP2A-IT1 DIP2A intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 DIP2A intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100862692 ENSG00000223692 OTTHUMG00000090716 uc031rwd.2 NR_046400 DIP2A-IT1 HGNC:41430 HGNC:29284 DIP2B disco interacting protein 2 homolog B protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "KIAA1463|FLJ34278" DIP2 disco-interacting protein 2 homolog B (Drosophila) 2006-01-13 2015-11-23 2023-01-20 57609 ENSG00000066084 OTTHUMG00000169475 uc001rwv.4 AB040896 NM_173602 CCDS31799 Q9P265 17236128 MGI:2145977 RGD:1305671 611379 470194 HGNC:29284 "ENST00000301180.10|NM_173602.3" HGNC:29284 HGNC:29150 DIP2C disco interacting protein 2 homolog C protein-coding gene gene with protein product Approved 10p15.3 10p15.3 KIAA0934 "KIAA0934|DIP2 disco-interacting protein 2 homolog C (Drosophila)" MicroRNA protein coding host genes 1691 2004-04-20 2006-01-13 2015-11-23 2023-01-20 22982 ENSG00000151240 OTTHUMG00000017532 uc001ifp.5 BC035216 NM_014974 CCDS7054 Q9Y2E4 MGI:1920179 RGD:1560155 611380 HGNC:29150 "ENST00000280886.12|NM_014974.3" HGNC:30724 DIP2C-AS1 DIP2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 FLJ38681 "C10orf108|PRR26" "chromosome 10 open reading frame 108|proline rich 26" Antisense RNAs 1987 2004-05-27 2020-06-18 2020-06-18 2023-03-15 414235 ENSG00000180525 OTTHUMG00000017529 uc057rea.1 AK096000 XR_007062026 Q8N8Z3 HGNC:30724 -HGNC:32213 DIPK1A divergent protein kinase domain 1A protein-coding gene gene with protein product Approved 1p22.1 01p22.1 FLJ23493 FAM69A "family with sequence similarity 69, member A|family with sequence similarity 69 member A" divergent protein kinase domain family 1622 2005-08-15 2018-09-27 2018-09-27 2023-01-20 388650 ENSG00000154511 OTTHUMG00000010894 uc001dpg.4 AK027146 NM_001006605 "CCDS44173|CCDS72824|CCDS72823|CCDS72822|CCDS72825" Q5T7M9 "21334309|23840464" MGI:1914516 RGD:1308581 614542 HGNC:32213 "ENST00000370310.5|NM_001006605.5" +HGNC:32213 DIPK1A divergent protein kinase domain 1A protein-coding gene gene with protein product Approved 1p22.1 01p22.1 FLJ23493 FAM69A "family with sequence similarity 69, member A|family with sequence similarity 69 member A" divergent protein kinase domain family 1622 2005-08-15 2018-09-27 2018-09-27 2023-01-20 388650 ENSG00000154511 OTTHUMG00000010894 uc001dpg.4 AK027146 NM_001006605 "CCDS72823|CCDS72822|CCDS44173|CCDS72825|CCDS72824" Q5T7M9 "21334309|23840464" MGI:1914516 RGD:1308581 614542 HGNC:32213 "ENST00000370310.5|NM_001006605.5" HGNC:28290 DIPK1B divergent protein kinase domain 1B protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MGC20262|C9orf136" FAM69B "family with sequence similarity 69, member B|family with sequence similarity 69 member B" divergent protein kinase domain family 1622 2005-08-15 2018-09-27 2018-09-27 2023-01-20 138311 ENSG00000165716 OTTHUMG00000020940 uc004cik.4 NM_152421 CCDS7004 Q5VUD6 "21334309|23840464" MGI:1927576 RGD:1308600 614543 HGNC:28290 "ENST00000371692.9|NM_152421.4" HGNC:31729 DIPK1C divergent protein kinase domain 1C protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "C18orf51|FAM69C" "chromosome 18 open reading frame 51|family with sequence similarity 69 member C" divergent protein kinase domain family 1622 2004-06-22 2018-09-27 2018-09-27 2023-04-12 125704 ENSG00000187773 OTTHUMG00000156984 uc002llk.4 BC019628 NM_001044369 CCDS42445 Q0P6D2 "21334309|23840464|35858575|36929224" MGI:3041188 RGD:1559694 614544 HGNC:31729 "ENST00000343998.8|NM_001044369.3" -HGNC:28490 DIPK2A divergent protein kinase domain 2A protein-coding gene gene with protein product Approved 3q24 03q24 "MGC33365|DIA1|HASF" "deleted in autism 1|hypoxia and Akt induced stem cell factor" C3orf58 chromosome 3 open reading frame 58 divergent protein kinase domain family 1622 2006-02-07 2018-09-27 2018-09-27 2023-01-20 205428 ENSG00000181744 OTTHUMG00000159380 uc003evo.4 AK095161 NM_173552 "CCDS46929|CCDS87151|CCDS3130" Q8NDZ4 "21283809|23784961|24269490|29666759" MGI:1916111 RGD:1309079 612200 HGNC:28490 "ENST00000315691.8|NM_173552.5" -HGNC:25866 DIPK2B divergent protein kinase domain 2B protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "FLJ14103|DIA1R" CXorf36 chromosome X open reading frame 36 divergent protein kinase domain family 1622 2004-08-27 2018-09-27 2018-09-27 2023-01-20 79742 ENSG00000147113 OTTHUMG00000021403 uc004dgg.3 AF289581 NM_024689 "CCDS48096|CCDS14266" Q9H7Y0 "11944989|21283809|23840464" MGI:1923155 RGD:1559731 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf36 300959 HGNC:25866 "ENST00000398000.7|NM_176819.4" +HGNC:28490 DIPK2A divergent protein kinase domain 2A protein-coding gene gene with protein product Approved 3q24 03q24 "MGC33365|DIA1|HASF" "deleted in autism 1|hypoxia and Akt induced stem cell factor" C3orf58 chromosome 3 open reading frame 58 divergent protein kinase domain family 1622 2006-02-07 2018-09-27 2018-09-27 2023-01-20 205428 ENSG00000181744 OTTHUMG00000159380 uc003evo.4 AK095161 NM_173552 "CCDS87151|CCDS46929|CCDS3130" Q8NDZ4 "21283809|23784961|24269490|29666759" MGI:1916111 RGD:1309079 612200 HGNC:28490 "ENST00000315691.8|NM_173552.5" +HGNC:25866 DIPK2B divergent protein kinase domain 2B protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "FLJ14103|DIA1R" CXorf36 chromosome X open reading frame 36 divergent protein kinase domain family 1622 2004-08-27 2018-09-27 2018-09-27 2023-01-20 79742 ENSG00000147113 OTTHUMG00000021403 uc004dgg.3 AF289581 NM_024689 "CCDS14266|CCDS48096" Q9H7Y0 "11944989|21283809|23840464" MGI:1923155 RGD:1559731 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf36 300959 HGNC:25866 "ENST00000398000.7|NM_176819.4" HGNC:19127 DIRAS1 DIRAS family GTPase 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Di-Ras1|GBTS1|RIG" "Ras-related inhibitor of cell growth|small GTP-binding tumor suppressor 1|distinct subgroup of the Ras family member 1" DIRAS family, GTP-binding RAS-like 1 RAS type GTPase family 389 2003-02-07 2016-05-04 2023-01-20 148252 ENSG00000176490 OTTHUMG00000180439 uc002lwf.4 BC030660 NM_145173 CCDS12092 O95057 "12107278|12194967" MGI:2183442 RGD:1310445 607862 HGNC:19127 "ENST00000323469.5|NM_145173.4" HGNC:19323 DIRAS2 DIRAS family GTPase 2 protein-coding gene gene with protein product Approved 9q22.2 09q22.2 "Di-Ras2|DKFZp761C07121" distinct subgroup of the Ras family member 2 DIRAS family, GTP-binding RAS-like 2 RAS type GTPase family 389 2003-02-07 2016-05-04 2023-01-20 54769 ENSG00000165023 OTTHUMG00000020196 uc004aqx.2 AB076889 NM_017594 CCDS6687 Q96HU8 12194967 MGI:1915453 RGD:1305580 607863 HGNC:19323 "ENST00000375765.5|NM_017594.5" HGNC:687 DIRAS3 DIRAS family GTPase 3 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 NOEY2 "GTP-binding protein Di-Ras3|distinct subgroup of the Ras family member 3" ARHI "ras homolog gene family, member I|DIRAS family, GTP-binding RAS-like 3" RAS type GTPase family 389 1999-01-22 2005-01-27 2016-05-04 2023-01-20 9077 ENSG00000162595 OTTHUMG00000009544 uc001ded.4 U96750 NM_004675 CCDS641 O95661 "9874798|12194967|18302158" RGD:1565168 LRG_1034|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1034.xml 605193 HGNC:687 "ENST00000646789.1|NM_004675.5" HGNC:15760 DIRC1 disrupted in renal carcinoma 1 non-coding RNA RNA, long non-coding Approved 2q32.2 02q32.2 Long non-coding RNAs with non-systematic symbols 1992 2001-06-21 2023-03-15 116093 ENSG00000174325 OTTHUMG00000132646 uc002uqi.2 AY039011 NR_161166 Q969H9 11587072 606423 HGNC:15760 HGNC:17805 DIRC3 disrupted in renal carcinoma 3 non-coding RNA RNA, long non-coding Approved 2q35 02q35 FLJ14199 Long non-coding RNAs with non-systematic symbols 1992 2003-09-22 2017-11-29 729582 ENSG00000231672 OTTHUMG00000155287 uc061sgw.1 AK024261 NR_026597 12939738 608262 326692 HGNC:17805 HGNC:50636 DIRC3-AS1 DIRC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2014-06-02 2014-06-02 105373877 ENSG00000233143 OTTHUMG00000155286 CO245227 NR_133642 DIRC3-AS1 HGNC:50636 -HGNC:20604 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease protein-coding gene gene with protein product Approved 13q21.33 13q21.33 "dis3p|RRP44|EXOSC11" exosome component 11 KIAA1008 "KIAA1008|DIS3 mitotic control homolog (S. cerevisiae)" "Exosome complex|Endoribonucleases" "817|1687" 2004-04-16 2007-01-12 2015-07-03 2023-01-20 22894 ENSG00000083520 OTTHUMG00000017070 uc001vix.6 AB023225 NM_014953 "CCDS9447|CCDS45057|CCDS81772" Q9Y2L1 "11935316|9562621" MGI:1919912 RGD:1304646 607533 470196 HGNC:20604 "ENST00000377767.9|NM_014953.5" -HGNC:28698 DIS3L DIS3 like exosome 3'-5' exoribonuclease protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "MGC4562|FLJ38088|KIAA1955|DIS3L1" DIS3 mitotic control homolog (S. cerevisiae)-like Exosome complex 817 2007-01-12 2014-03-05 2023-01-20 115752 ENSG00000166938 OTTHUMG00000133181 uc010ujm.3 NM_133375 "CCDS45286|CCDS10214" Q8TF46 20531386 MGI:2143272 RGD:1308959 614183 HGNC:28698 "ENST00000319212.9|NM_001143688.3" +HGNC:20604 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease protein-coding gene gene with protein product Approved 13q21.33 13q21.33 "dis3p|RRP44|EXOSC11" exosome component 11 KIAA1008 "KIAA1008|DIS3 mitotic control homolog (S. cerevisiae)" "Exosome complex|Endoribonucleases" "817|1687" 2004-04-16 2007-01-12 2015-07-03 2023-01-20 22894 ENSG00000083520 OTTHUMG00000017070 uc001vix.6 AB023225 NM_014953 "CCDS9447|CCDS81772|CCDS45057" Q9Y2L1 "11935316|9562621" MGI:1919912 RGD:1304646 607533 470196 HGNC:20604 "ENST00000377767.9|NM_014953.5" +HGNC:28698 DIS3L DIS3 like exosome 3'-5' exoribonuclease protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "MGC4562|FLJ38088|KIAA1955|DIS3L1" DIS3 mitotic control homolog (S. cerevisiae)-like Exosome complex 817 2007-01-12 2014-03-05 2023-01-20 115752 ENSG00000166938 OTTHUMG00000133181 uc010ujm.3 NM_133375 "CCDS10214|CCDS45286" Q8TF46 20531386 MGI:2143272 RGD:1308959 614183 HGNC:28698 "ENST00000319212.9|NM_001143688.3" HGNC:55369 DIS3L-AS1 DIS3L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q22.31 15q22.31 Antisense RNAs 1987 2020-11-11 2020-11-11 105370868 ENSG00000261318 NR_183865 -HGNC:28648 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "FLJ36974|MGC42174" FAM6A "family with sequence similarity 6, member A|DIS3 mitotic control homolog (S. cerevisiae)-like 2" MicroRNA protein coding host genes 1691 2007-01-17 2014-03-05 2023-01-20 129563 ENSG00000144535 OTTHUMG00000153385 uc010fxz.4 BC026166 NM_152383 "CCDS58753|CCDS58752|CCDS42834" Q8IYB7 "22306653|23503588" MGI:2442555 RGD:1560168 LRG_534|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_534.xml 614184 293019 HGNC:28648 "ENST00000325385.12|NM_152383.5" HGNC:28648 +HGNC:28648 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "FLJ36974|MGC42174" FAM6A "family with sequence similarity 6, member A|DIS3 mitotic control homolog (S. cerevisiae)-like 2" MicroRNA protein coding host genes 1691 2007-01-17 2014-03-05 2023-01-20 129563 ENSG00000144535 OTTHUMG00000153385 uc010fxz.4 BC026166 NM_152383 "CCDS58752|CCDS42834|CCDS58753" Q8IYB7 "22306653|23503588" MGI:2442555 RGD:1560168 LRG_534|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_534.xml 614184 293019 HGNC:28648 "ENST00000325385.12|NM_152383.5" HGNC:28648 HGNC:14021 DIS3L2P1 DIS3 like 3'-5' exoribonuclease 2 pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 "FAM6B|DIS3L2P" "family with sequence similarity 6, member B pseudogene|DIS3 mitotic control homolog (S. cerevisiae)-like 2 pseudogene|DIS3 mitotic control homolog (S. cerevisiae)-like 2 pseudogene 1|DIS3L2 pseudogene 1" 2002-12-10 2010-10-12 2015-04-07 2015-04-07 282697 ENSG00000223788 OTTHUMG00000153337 AF307337 NG_009945 11352565 HGNC:14021 -HGNC:2888 DISC1 DISC1 scaffold protein protein-coding gene gene with protein product Approved 1q42.2 01q42.2 disrupted in schizophrenia 1 2000-01-20 2018-03-01 2023-01-20 27185 ENSG00000162946 OTTHUMG00000037835 uc010pww.3 AF222980 NM_018662 "CCDS59207|CCDS86059|CCDS31056|CCDS53485|CCDS53484|CCDS59205|CCDS53483|CCDS59206|CCDS53482|CCDS86058|CCDS31055" Q9NRI5 10814723 MGI:2447658 RGD:631359 605210 121089 HGNC:2888 "ENST00000439617.8|NM_018662.3" +HGNC:2888 DISC1 DISC1 scaffold protein protein-coding gene gene with protein product Approved 1q42.2 01q42.2 disrupted in schizophrenia 1 2000-01-20 2018-03-01 2023-01-20 27185 ENSG00000162946 OTTHUMG00000037835 uc010pww.3 AF222980 NM_018662 "CCDS86058|CCDS53485|CCDS53482|CCDS31055|CCDS59207|CCDS59205|CCDS59206|CCDS53484|CCDS31056|CCDS86059|CCDS53483" Q9NRI5 10814723 MGI:2447658 RGD:631359 605210 121089 HGNC:2888 "ENST00000439617.8|NM_018662.3" HGNC:41325 DISC1-IT1 DISC1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 DISC1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 104472714 ENSG00000226758 OTTHUMG00000037834 uc057qju.1 NR_126441 DISC1-IT1 HGNC:41325 HGNC:33625 DISC1FP1 DISC1 fusion partner 1 non-coding RNA RNA, long non-coding Approved 11q14.3 11q14.3 Boymaw DISC1 fusion partner 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2012-03-16 2018-05-16 2020-04-20 101929222 ENSG00000261645 OTTHUMG00000167309 uc031yah.1 "AK130626|EU302123" NR_104190 22547224 DISC1FP1 HGNC:33625 HGNC:2889 DISC2 disrupted in schizophrenia 2 non-coding RNA RNA, long non-coding Approved 1q42.1 01q42.1 "DISC1-AS1|DISC1OS|NCRNA00015" "DISC1 antisense RNA 1|non-protein coding RNA 15" disrupted in schizophrenia 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2000-01-20 2018-05-16 2018-05-16 27184 uc057qjs.1 AF222981 NR_002227 "10814723|15478311" 606271 DISC2 DISC2 HGNC:2889 HGNC:19711 DISP1 dispatched RND transporter family member 1 protein-coding gene gene with protein product Approved 1q41 01q41 "DISPA|MGC13130|DKFZP434I0428|MGC16796" dispatched homolog 1 (Drosophila) Dispatched RND transporter family 2217 2003-12-12 2016-01-15 2023-01-20 84976 ENSG00000154309 OTTHUMG00000037893 uc057prm.1 AK056569 NM_032890 CCDS1536 Q96F81 10619433 MGI:1916147 RGD:1307675 607502 242325 HGNC:19711 "ENST00000675850.1|NM_001377229.1" HGNC:19711 HGNC:19712 DISP2 dispatched RND transporter family member 2 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "DISPB|KIAA1742|HsT16908" "LINC00594|C15orf36" "dispatched homolog 2 (Drosophila)|long intergenic non-protein coding RNA 594|chromosome 15 open reading frame 36" Dispatched RND transporter family 2217 2003-12-12 2016-01-15 2023-01-20 85455 ENSG00000140323 OTTHUMG00000129983 uc001zlk.2 AB051529 NM_033510 CCDS10056 A7MBM2 "11214970|10619433" MGI:2388733 RGD:1309569 607503 HGNC:19712 "ENST00000267889.5|NM_033510.3" HGNC:29251 DISP3 dispatched RND transporter family member 3 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 KIAA1337 dispatched homolog 3 (Drosophila) PTCHD2 patched domain containing 2 Dispatched RND transporter family 2217 2005-05-24 2016-01-15 2016-01-15 2023-01-20 57540 ENSG00000204624 OTTHUMG00000002074 uc001ash.5 AB037758 NM_020780 CCDS41247 Q9P2K9 "15738394|25281927" MGI:2444403 RGD:1305820 611251 HGNC:29251 "ENST00000294484.7|NM_020780.2" -HGNC:23695 DIXDC1 DIX domain containing 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "KIAA1735|Dixin" Dishevelled segment polarity proteins 505 2003-12-03 2023-01-20 85458 ENSG00000150764 OTTHUMG00000166912 uc031yfb.2 AB051522 NM_001037954 "CCDS60957|CCDS73382|CCDS73381" Q155Q3 12792787 MGI:2679721 RGD:1309902 610493 HGNC:23695 "ENST00000440460.7|NM_001037954.4" +HGNC:23695 DIXDC1 DIX domain containing 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "KIAA1735|Dixin" Dishevelled segment polarity proteins 505 2003-12-03 2023-01-20 85458 ENSG00000150764 OTTHUMG00000166912 uc031yfb.2 AB051522 NM_001037954 "CCDS60957|CCDS73381|CCDS73382" Q155Q3 12792787 MGI:2679721 RGD:1309902 610493 HGNC:23695 "ENST00000440460.7|NM_001037954.4" HGNC:2890 DKC1 dyskerin pseudouridine synthase 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "XAP101|dyskerin|NAP57|NOLA4|Cbf5" H/ACA ribonucleoprotein complex subunit 4 DKC dyskeratosis congenita 1, dyskerin "H/ACA ribonucleoprotein complex|Pseudouridine synthases|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1221|1665|1691|1835" 2001-06-22 2016-02-17 2023-03-15 1736 ENSG00000130826 OTTHUMG00000024242 uc004fmm.5 AJ224481 NM_001363 "CCDS14761|CCDS94705" O60832 "9590285|9888995" MGI:1861727 RGD:621780 "DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome|http://structure.bmc.lu.se/idbase/DKC1base/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DKC1|LRG_55|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_55.xml" 300126 121091 HGNC:2890 "ENST00000369550.10|NM_001363.5" HGNC:2890 HGNC:2891 DKK1 dickkopf WNT signaling pathway inhibitor 1 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "SK|DKK-1" "dickkopf (Xenopus laevis) homolog 1|dickkopf 1 homolog (Xenopus laevis)" 2000-09-01 2013-05-15 2023-01-20 22943 ENSG00000107984 OTTHUMG00000018247 uc001jjr.4 NM_012242 CCDS7246 O94907 MGI:1329040 RGD:1307313 605189 310112 ligandId:3701 HGNC:2891 "ENST00000373970.4|NM_012242.4" HGNC:2892 DKK2 dickkopf WNT signaling pathway inhibitor 2 protein-coding gene gene with protein product Approved 4q25 04q25 "dickkopf (Xenopus laevis) homolog 2|dickkopf 2 homolog (Xenopus laevis)" 2000-09-01 2013-05-15 2023-01-20 27123 ENSG00000155011 OTTHUMG00000131216 uc003hyi.4 AB033208 NM_014421 CCDS3675 Q9UBU2 10570958 MGI:1890663 RGD:1308639 605415 HGNC:2892 "ENST00000285311.8|NM_014421.3" @@ -6653,28 +6654,28 @@ HGNC:2893 DKK3 dickkopf WNT signaling pathway inhibitor 3 protein-coding gene ge HGNC:2894 DKK4 dickkopf WNT signaling pathway inhibitor 4 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "dickkopf (Xenopus laevis) homolog 4|dickkopf homolog 4 (Xenopus laevis)" 2000-09-01 2013-05-15 2023-01-20 27121 ENSG00000104371 OTTHUMG00000164167 uc003xpb.4 AF177397 NM_014420 CCDS6130 Q9UBT3 "10570958|11701963" MGI:2385299 RGD:1563172 605417 HGNC:2894 "ENST00000220812.3|NM_014420.3" HGNC:16528 DKKL1 dickkopf like acrosomal protein 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "SGY-1|CT34" "cancer/testis antigen 34|soggy" dickkopf-like 1 2004-07-09 2016-02-15 2023-01-20 27120 ENSG00000104901 OTTHUMG00000183171 uc002pnk.4 AB047816 NM_014419 CCDS12762 Q9UK85 "10570958|15892050" MGI:1354963 RGD:1563523 605418 HGNC:16528 "ENST00000221498.7|NM_014419.4" HGNC:16593 DKKL1P1 DKKL1 pseudogene 1 pseudogene pseudogene Approved 20q11.21 20q11.21 dJ854E16.1 DKKL2 "dickkopf-like 2|dickkopf-like 1 pseudogene 1" 2001-09-17 2010-10-12 2019-02-18 2019-02-18 128848 ENSG00000215546 OTTHUMG00000032158 NG_005524 PGOHUM00000247640 HGNC:16593 -HGNC:2896 DLAT dihydrolipoamide S-acetyltransferase protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "PDC-E2|E2" "E2 component of pyruvate dehydrogenase complex|dihydrolipoyllysine-residue acetyltransferase" DLTA Pyruvate dehydrogenase complex 1547 1989-06-30 2008-02-04 2023-01-20 1737 ENSG00000150768 OTTHUMG00000133751 uc001pmo.4 Y00978 NM_001931 "CCDS8354|CCDS91590|CCDS91591|CCDS91588|CCDS91592|CCDS91589|CCDS91593|CCDS91587" P10515 8102256 MGI:2385311 RGD:619859 608770 121098 2.3.1.12 HGNC:2896 "ENST00000280346.11|NM_001931.5" HGNC:2896 -HGNC:2897 DLC1 DLC1 Rho GTPase activating protein protein-coding gene gene with protein product Approved 8p22 08p22 "HP|ARHGAP7|STARD12|DLC-1|p122-RhoGAP" StAR-related lipid transfer (START) domain containing 12 deleted in liver cancer 1 "Rho GTPase activating proteins|StAR related lipid transfer domain containing" "721|759" 1999-06-17 2014-06-20 2023-01-20 10395 ENSG00000164741 OTTHUMG00000090825 uc003wwm.3 AF035119 "NM_182643|NM_006094" "CCDS5989|CCDS5990|CCDS5991|CCDS83253|CCDS55201" Q96QB1 "9605766|11214970" MGI:1354949 RGD:68416 604258 470198 HGNC:2897 "ENST00000276297.9|NM_182643.3" HGNC:2897 -HGNC:2898 DLD dihydrolipoamide dehydrogenase protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "DLDH|E3|OGDC-E3" E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex "LAD|GCSL" dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) Pyruvate dehydrogenase complex 1547 1988-05-11 2006-05-22 2023-01-20 1738 ENSG00000091140 OTTHUMG00000154813 uc003vet.5 AB209703 NM_000108 "CCDS5749|CCDS78268|CCDS78269" P09622 MGI:107450 RGD:735073 238331 121102 1.8.1.4 HGNC:2898 "ENST00000205402.10|NM_000108.5" HGNC:2898 +HGNC:2896 DLAT dihydrolipoamide S-acetyltransferase protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "PDC-E2|E2" "E2 component of pyruvate dehydrogenase complex|dihydrolipoyllysine-residue acetyltransferase" DLTA Pyruvate dehydrogenase complex 1547 1989-06-30 2008-02-04 2023-01-20 1737 ENSG00000150768 OTTHUMG00000133751 uc001pmo.4 Y00978 NM_001931 "CCDS91591|CCDS91592|CCDS91587|CCDS91590|CCDS91593|CCDS91589|CCDS8354|CCDS91588" P10515 8102256 MGI:2385311 RGD:619859 608770 121098 2.3.1.12 HGNC:2896 "ENST00000280346.11|NM_001931.5" HGNC:2896 +HGNC:2897 DLC1 DLC1 Rho GTPase activating protein protein-coding gene gene with protein product Approved 8p22 08p22 "HP|ARHGAP7|STARD12|DLC-1|p122-RhoGAP" StAR-related lipid transfer (START) domain containing 12 deleted in liver cancer 1 "Rho GTPase activating proteins|StAR related lipid transfer domain containing" "721|759" 1999-06-17 2014-06-20 2023-01-20 10395 ENSG00000164741 OTTHUMG00000090825 uc003wwm.3 AF035119 "NM_182643|NM_006094" "CCDS5990|CCDS5989|CCDS83253|CCDS5991|CCDS55201" Q96QB1 "9605766|11214970" MGI:1354949 RGD:68416 604258 470198 HGNC:2897 "ENST00000276297.9|NM_182643.3" HGNC:2897 +HGNC:2898 DLD dihydrolipoamide dehydrogenase protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "DLDH|E3|OGDC-E3" E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex "LAD|GCSL" dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) Pyruvate dehydrogenase complex 1547 1988-05-11 2006-05-22 2023-01-20 1738 ENSG00000091140 OTTHUMG00000154813 uc003vet.5 AB209703 NM_000108 "CCDS78269|CCDS5749|CCDS78268" P09622 MGI:107450 RGD:735073 238331 121102 1.8.1.4 HGNC:2898 "ENST00000205402.10|NM_000108.5" HGNC:2898 HGNC:2899 DLEC1 DLEC1 cilia and flagella associated protein protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "DLC1|CFAP81|FAP81" cilia and flagella associated protein 81 deleted in lung and esophageal cancer 1 Cilia and flagella associated 1491 1999-05-07 2019-01-21 2023-03-15 9940 ENSG00000008226 OTTHUMG00000131085 uc003cho.2 AB020522 NM_007337 CCDS2672 Q9Y238 10213508 MGI:2443671 RGD:1561649 604050 470200 HGNC:2899 "ENST00000308059.11|NM_007335.4" HGNC:44545 DLEC1P1 DLEC1 pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 deleted in lung and esophageal cancer 1 pseudogene 1 2012-11-15 2019-01-21 2019-01-21 100421153 ENSG00000230123 OTTHUMG00000156032 NG_025566 PGOHUM00000237590 HGNC:44545 HGNC:13747 DLEU1 deleted in lymphocytic leukemia 1 non-coding RNA RNA, long non-coding Approved 13q14.2-q14.3 13q14.2-q14.3 "LEU1|XTP6|NCRNA00021|LINC00021|BCMS1" "B-cell neoplasia-associated gene with multiple splicing|non-protein coding RNA 21|long intergenic non-protein coding RNA 21" "DLB1|BCMS" "deleted in lymphocytic leukemia 1|deleted in lymphocytic leukemia 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2000-11-28 2018-05-16 2018-05-16 10301 ENSG00000176124 OTTHUMG00000016934 uc058xbn.1 Y15227 NR_002605 O43261 "9395242|11406609" 605765 DLEU1 HGNC:13747 HGNC:50496 DLEU1-AS1 DLEU1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 LINC01308 long intergenic non-protein coding RNA 1308 Antisense RNAs 1987 2014-05-09 2020-01-22 103689915 OTTHUMG00000016932 BM264234 NR_125753 DLEU1-AS1 HGNC:50496 HGNC:13748 DLEU2 deleted in lymphocytic leukemia 2 non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 "LEU2|TRIM13OS|NCRNA00022|LINC00022|MIR15AHG" "non-protein coding RNA 22|long intergenic non-protein coding RNA 22|mir-15a-16-1 cluster host gene (non-protein coding)" "DLB2|BCMSUN|RFP2OS" "ret finger protein 2 opposite strand|deleted in lymphocytic leukemia, 2|deleted in lymphocytic leukemia 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2000-11-28 2018-05-16 2018-05-16 8847 ENSG00000231607 OTTHUMG00000016927 uc001vdo.1 Y15228 NR_002612 "9395242|11072235" 605766 dleu2 DLEU2 HGNC:13748 HGNC:13225 DLEU2L deleted in lymphocytic leukemia 2 like non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 BCMSUNL BCMS upstream neighbor-like Long non-coding RNAs with non-systematic symbols 1992 2001-07-09 2006-04-10 2019-02-18 2019-03-06 79469 ENSG00000116652 OTTHUMG00000008984 uc001dbg.2 AF254117 NR_002771 11072235 HGNC:13225 -HGNC:17567 DLEU7 deleted in lymphocytic leukemia 7 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 FLJ44882 2005-02-22 2018-08-15 2023-01-20 220107 ENSG00000186047 OTTHUMG00000016936 uc001vex.3 AK126830 NM_198989 "CCDS53869|CCDS76635" Q6UYE1 14706829 MGI:2447771 RGD:1305071 618634 HGNC:17567 "ENST00000504404.2|NM_001306135.2" +HGNC:17567 DLEU7 deleted in lymphocytic leukemia 7 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 FLJ44882 2005-02-22 2018-08-15 2023-01-20 220107 ENSG00000186047 OTTHUMG00000016936 uc001vex.3 AK126830 NM_198989 "CCDS76635|CCDS53869" Q6UYE1 14706829 MGI:2447771 RGD:1305071 618634 HGNC:17567 "ENST00000504404.2|NM_001306135.2" HGNC:39966 DLEU7-AS1 DLEU7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 DLEU7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-18 2012-08-15 2020-01-22 100874074 OTTHUMG00000016935 uc001vey.4 NR_046551 DLEU7-AS1 HGNC:39966 -HGNC:2900 DLG1 discs large MAGUK scaffold protein 1 protein-coding gene gene with protein product Approved 3q29 03q29 "SAP97|SAP-97|hdlg|DLGH1|dJ1061C18.1.1" "discs large homolog 1|presynaptic protein SAP97|synapse-associated protein 97" "discs, large homolog 1 (Drosophila)|discs large homolog 1, scribble cell polarity complex component" "Membrane associated guanylate kinases|PDZ domain containing|Scribble complex|MicroRNA protein coding host genes" "904|1220|1224|1691" 1995-05-04 2016-05-24 2023-01-20 1739 ENSG00000075711 OTTHUMG00000047972 uc011bue.3 U13897 NM_004087 "CCDS56300|CCDS93448|CCDS93454|CCDS43194|CCDS93450|CCDS87192|CCDS93449|CCDS93447|CCDS93451|CCDS3327|CCDS93452|CCDS75072|CCDS93453|CCDS56301" Q12959 "7937897|8825652" MGI:107231 RGD:2505 601014 470204 HGNC:2900 "ENST00000667157.1|NM_001366207.1" HGNC:2900 +HGNC:2900 DLG1 discs large MAGUK scaffold protein 1 protein-coding gene gene with protein product Approved 3q29 03q29 "SAP97|SAP-97|hdlg|DLGH1|dJ1061C18.1.1" "discs large homolog 1|presynaptic protein SAP97|synapse-associated protein 97" "discs, large homolog 1 (Drosophila)|discs large homolog 1, scribble cell polarity complex component" "Membrane associated guanylate kinases|PDZ domain containing|Scribble complex|MicroRNA protein coding host genes" "904|1220|1224|1691" 1995-05-04 2016-05-24 2023-01-20 1739 ENSG00000075711 OTTHUMG00000047972 uc011bue.3 U13897 NM_004087 "CCDS93453|CCDS93454|CCDS93452|CCDS93449|CCDS56300|CCDS87192|CCDS75072|CCDS56301|CCDS3327|CCDS93447|CCDS43194|CCDS93448|CCDS93450|CCDS93451" Q12959 "7937897|8825652" MGI:107231 RGD:2505 601014 470204 HGNC:2900 "ENST00000667157.1|NM_001366207.1" HGNC:2900 HGNC:44154 DLG1-AS1 DLG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 DLG1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100507086 ENSG00000227375 OTTHUMG00000155484 uc003fxq.4 BC039329 NR_038289 DLG1-AS1 HGNC:44154 -HGNC:2901 DLG2 discs large MAGUK scaffold protein 2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "PSD-93|PSD93|chapsyn-110|PPP1R58" protein phosphatase 1, regulatory subunit 58 "discs, large homolog 2, chapsyn-110 (Drosophila)|discs, large homolog 2 (Drosophila)|discs large homolog 2" "Protein phosphatase 1 regulatory subunits|Membrane associated guanylate kinases|PDZ domain containing" "694|904|1220" 1997-04-21 2016-05-24 2023-01-20 1740 ENSG00000150672 OTTHUMG00000134309 uc001paj.3 U32376 NM_001364 "CCDS91556|CCDS91557|CCDS91559|CCDS91555|CCDS73357|CCDS91558|CCDS44690|CCDS41696|CCDS44691|CCDS91565|CCDS91563|CCDS91566|CCDS44692|CCDS55782" Q15700 "8755482|9806853" MGI:1344351 RGD:619895 603583 470208 HGNC:2901 "ENST00000376104.7|NM_001142699.3" +HGNC:2901 DLG2 discs large MAGUK scaffold protein 2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "PSD-93|PSD93|chapsyn-110|PPP1R58" protein phosphatase 1, regulatory subunit 58 "discs, large homolog 2, chapsyn-110 (Drosophila)|discs, large homolog 2 (Drosophila)|discs large homolog 2" "Protein phosphatase 1 regulatory subunits|Membrane associated guanylate kinases|PDZ domain containing" "694|904|1220" 1997-04-21 2016-05-24 2023-01-20 1740 ENSG00000150672 OTTHUMG00000134309 uc001paj.3 U32376 NM_001364 "CCDS91557|CCDS91555|CCDS91563|CCDS91556|CCDS55782|CCDS91559|CCDS41696|CCDS91566|CCDS44692|CCDS44691|CCDS73357|CCDS44690|CCDS91558|CCDS91565" Q15700 "8755482|9806853" MGI:1344351 RGD:619895 603583 470208 HGNC:2901 "ENST00000376104.7|NM_001142699.3" HGNC:37132 DLG2-AS1 DLG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 "PSZA11q14|SZ-1" "DLG2AS|DLG2-AS" "DLG2 antisense RNA (non-protein coding)|DLG2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-08-18 2010-11-25 2012-08-15 2014-10-22 100302690 AF525782 13130513 dlg2as HGNC:40179 DLG2-AS2 DLG2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Antisense RNAs 1987 2019-07-25 2019-07-25 101929043 ENSG00000255311 OTTHUMG00000167144 XR_007062804 HGNC:40179 -HGNC:2902 DLG3 discs large MAGUK scaffold protein 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "NE-Dlg|SAP102|SAP-102|NEDLG|KIAA1232|MRX90|PPP1R82" "neuroendocrine-dlg|protein phosphatase 1, regulatory subunit 82|synapse associated protein 102" "discs, large homolog 3 (neuroendocrine-dlg, Drosophila)|discs, large homolog 3 (Drosophila)|discs large homolog 3" "Protein phosphatase 1 regulatory subunits|Membrane associated guanylate kinases|PDZ domain containing" "694|904|1220" 1997-04-21 2016-05-24 2023-01-20 1741 ENSG00000082458 OTTHUMG00000021778 uc004dyi.3 U49089 NM_021120 "CCDS55439|CCDS43967|CCDS14403" Q92796 9598320 MGI:1888986 RGD:68423 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DLG3 300189 159924 HGNC:2902 "ENST00000374360.8|NM_021120.4" HGNC:2902 +HGNC:2902 DLG3 discs large MAGUK scaffold protein 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "NE-Dlg|SAP102|SAP-102|NEDLG|KIAA1232|MRX90|PPP1R82" "neuroendocrine-dlg|protein phosphatase 1, regulatory subunit 82|synapse associated protein 102" "discs, large homolog 3 (neuroendocrine-dlg, Drosophila)|discs, large homolog 3 (Drosophila)|discs large homolog 3" "Protein phosphatase 1 regulatory subunits|Membrane associated guanylate kinases|PDZ domain containing" "694|904|1220" 1997-04-21 2016-05-24 2023-01-20 1741 ENSG00000082458 OTTHUMG00000021778 uc004dyi.3 U49089 NM_021120 "CCDS14403|CCDS55439|CCDS43967" Q92796 9598320 MGI:1888986 RGD:68423 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DLG3 300189 159924 HGNC:2902 "ENST00000374360.8|NM_021120.4" HGNC:2902 HGNC:40182 DLG3-AS1 DLG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 DLG3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2021-07-22 100873930 ENSG00000231651 OTTHUMG00000021777 uc033ehj.2 NR_046586 DLG3-AS1 HGNC:40182 -HGNC:2903 DLG4 discs large MAGUK scaffold protein 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "PSD-95|PSD95|SAP90|SAP-90" "discs, large homolog 4 (Drosophila)|discs large homolog 4" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-11-07 2016-05-24 2023-01-20 1742 ENSG00000132535 OTTHUMG00000134327 uc010cly.4 U83192 NM_001365 "CCDS82050|CCDS92245|CCDS45599|CCDS45600|CCDS92244|CCDS92243" P78352 9286702 MGI:1277959 RGD:68424 602887 470212 HGNC:2903 "ENST00000399506.9|NM_001321075.3" HGNC:2903 +HGNC:2903 DLG4 discs large MAGUK scaffold protein 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "PSD-95|PSD95|SAP90|SAP-90" "discs, large homolog 4 (Drosophila)|discs large homolog 4" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-11-07 2016-05-24 2023-01-20 1742 ENSG00000132535 OTTHUMG00000134327 uc010cly.4 U83192 NM_001365 "CCDS45600|CCDS92244|CCDS92243|CCDS82050|CCDS45599|CCDS92245" P78352 9286702 MGI:1277959 RGD:68424 602887 470212 HGNC:2903 "ENST00000399506.9|NM_001321075.3" HGNC:2903 HGNC:2904 DLG5 discs large MAGUK scaffold protein 5 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "P-dlg|KIAA0583" "discs, large homolog 5 (Drosophila)|discs large homolog 5" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1999-02-23 2016-05-24 2023-01-20 9231 ENSG00000151208 OTTHUMG00000018548 uc001jzk.4 U61843 NM_004747 CCDS7353 Q8TDM6 9738934 MGI:1918478 RGD:1308753 604090 HGNC:2904 "ENST00000372391.7|NM_004747.4" HGNC:2904 HGNC:45109 DLG5-AS1 DLG5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2013-02-15 2013-02-15 100128292 ENSG00000233871 OTTHUMG00000018547 uc057ujv.1 NR_024585 DLG5-AS1 HGNC:45109 -HGNC:2905 DLGAP1 DLG associated protein 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "GKAP|SAPAP1|DAP-1" "discs, large (Drosophila) homolog-associated protein 1|discs large homolog associated protein 1" 1999-02-23 2016-05-24 2023-01-20 9229 ENSG00000170579 OTTHUMG00000131537 uc002kmf.4 AB000277 NM_001003809 "CCDS74191|CCDS77146|CCDS42406|CCDS11836|CCDS56052|CCDS56051|CCDS56053|CCDS56050|CCDS56049" O14490 "9024696|9286858" MGI:1346065 RGD:620223 605445 HGNC:2905 "ENST00000315677.8|NM_004746.4" +HGNC:2905 DLGAP1 DLG associated protein 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "GKAP|SAPAP1|DAP-1" "discs, large (Drosophila) homolog-associated protein 1|discs large homolog associated protein 1" 1999-02-23 2016-05-24 2023-01-20 9229 ENSG00000170579 OTTHUMG00000131537 uc002kmf.4 AB000277 NM_001003809 "CCDS56050|CCDS74191|CCDS77146|CCDS11836|CCDS56053|CCDS42406|CCDS56051|CCDS56052|CCDS56049" O14490 "9024696|9286858" MGI:1346065 RGD:620223 605445 HGNC:2905 "ENST00000315677.8|NM_004746.4" HGNC:31676 DLGAP1-AS1 DLGAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 "HsT914|FLJ35776" DLGAP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-13 2012-08-15 2020-01-30 649446 ENSG00000177337 OTTHUMG00000177863 uc010wza.5 NR_024101 31949128 DLGAP1-AS1 HGNC:31676 HGNC:28146 DLGAP1-AS2 DLGAP1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 MGC11082 DLGAP1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-08-13 2012-08-15 2020-01-09 84777 ENSG00000262001 OTTHUMG00000177864 uc002kmi.4 BC005130 NR_119377 31899508 DLGAP1-AS2 HGNC:28146 HGNC:27317 DLGAP1-AS3 DLGAP1 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 DLGAP1 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2012-08-13 2012-08-15 2012-10-12 201477 ENSG00000263724 OTTHUMG00000178391 uc002kml.1 NR_038895 12477932 DLGAP1-AS3 HGNC:27317 @@ -6683,12 +6684,12 @@ HGNC:27586 DLGAP1-AS5 DLGAP1 antisense RNA 5 non-coding RNA RNA, long non-coding HGNC:2906 DLGAP2 DLG associated protein 2 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 DAP-2 "ERICH1-AS1|C8orf68" "discs, large (Drosophila) homolog-associated protein 2|discs large homolog associated protein 2|ERICH1 antisense RNA 1|chromosome 8 open reading frame 68|ERICH1 antisense RNA 1 (non-protein coding)" 1999-02-23 2016-05-24 2023-03-15 9228 ENSG00000198010 OTTHUMG00000163599 uc003wpl.4 AB000275 NM_004745 CCDS87572 Q9P1A6 "9286858|10854099" MGI:2443181 RGD:620224 605438 HGNC:2906 "ENST00000637795.2|NM_001346810.2" HGNC:2906 HGNC:50467 DLGAP2-AS1 DLGAP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p23.3 08p23.3 Antisense RNAs 1987 2014-04-30 2014-04-30 100507435 ENSG00000253267 OTTHUMG00000163600 NR_103863 DLGAP2-AS1 HGNC:50467 HGNC:30368 DLGAP3 DLG associated protein 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "SAPAP3|DAP3" "discs, large (Drosophila) homolog-associated protein 3|discs large homolog associated protein 3" 2004-03-17 2016-05-24 2023-01-20 58512 ENSG00000116544 OTTHUMG00000004049 uc057equ.1 AF131778 NM_021234 CCDS30670 O95886 "8619474|9110174" MGI:3039563 RGD:708349 611413 HGNC:30368 "ENST00000373347.6|NM_001080418.3" -HGNC:24476 DLGAP4 DLG associated protein 4 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "DAP4|KIAA0964|SAPAP4" "discs, large (Drosophila) homolog-associated protein 4|discs large homolog associated protein 4" 2004-03-17 2016-05-24 2023-03-15 22839 ENSG00000080845 OTTHUMG00000032390 uc002xff.4 AF088030 NM_014902 "CCDS93034|CCDS13274|CCDS13275" Q9Y2H0 9115257 MGI:2138865 RGD:708350 616191 HGNC:24476 "ENST00000339266.10|NM_001365621.2" +HGNC:24476 DLGAP4 DLG associated protein 4 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "DAP4|KIAA0964|SAPAP4" "discs, large (Drosophila) homolog-associated protein 4|discs large homolog associated protein 4" 2004-03-17 2016-05-24 2023-03-15 22839 ENSG00000080845 OTTHUMG00000032390 uc002xff.4 AF088030 NM_014902 "CCDS13274|CCDS93034|CCDS13275" Q9Y2H0 9115257 MGI:2138865 RGD:708350 616191 HGNC:24476 "ENST00000339266.10|NM_001365621.2" HGNC:51223 DLGAP4-AS1 DLGAP4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 CCAT7 Antisense RNAs 1987 2014-08-08 2019-12-20 101926987 ENSG00000232907 OTTHUMG00000032391 BC039668 NR_109939 25663692 DLGAP4-AS1 HGNC:51223 -HGNC:16864 DLGAP5 DLG associated protein 5 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "KIAA0008|DLG1|HURP" DLG7 "discs, large homolog 7 (Drosophila)|discs, large (Drosophila) homolog-associated protein 5|discs large homolog associated protein 5" 2002-11-19 2008-05-30 2016-05-24 2023-01-20 9787 ENSG00000126787 OTTHUMG00000140310 uc001xbs.4 D13633 NM_014750 "CCDS53897|CCDS9723" Q15398 "7584026|7584028" MGI:2183453 RGD:1311247 617859 470206 HGNC:16864 "ENST00000247191.7|NM_014750.5" +HGNC:16864 DLGAP5 DLG associated protein 5 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "KIAA0008|DLG1|HURP" DLG7 "discs, large homolog 7 (Drosophila)|discs, large (Drosophila) homolog-associated protein 5|discs large homolog associated protein 5" 2002-11-19 2008-05-30 2016-05-24 2023-01-20 9787 ENSG00000126787 OTTHUMG00000140310 uc001xbs.4 D13633 NM_014750 "CCDS9723|CCDS53897" Q15398 "7584026|7584028" MGI:2183453 RGD:1311247 617859 470206 HGNC:16864 "ENST00000247191.7|NM_014750.5" HGNC:23945 DLGAP5P1 DLGAP5 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 "discs, large (Drosophila) homolog-associated protein 5 pseudogene 1|discs large homolog associated protein 5 pseudogene 1" 2009-12-17 2020-05-22 2020-05-22 360014 ENSG00000237195 OTTHUMG00000036007 NG_002932 12815422 PGOHUM00000233894 HGNC:23945 HGNC:55016 DLGAP5P2 DLGAP5 pseudogene 2 pseudogene pseudogene Approved Xq21.32 Xq21.32 2020-05-22 2020-05-22 117981791 ENSG00000237873 NG_070707 -HGNC:2907 DLK1 delta like non-canonical Notch ligand 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "FA1|pG2|Pref-1|ZOG|Delta1" "delta-like homolog (Drosophila)|delta-like 1 homolog (Drosophila)" 1998-12-09 2016-05-16 2023-01-20 8788 ENSG00000185559 OTTHUMG00000171600 uc001yhs.5 U15979 NM_001317172 "CCDS9963|CCDS81852" P80370 "8095043|7925474" MGI:94900 RGD:619931 LRG_1044|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1044.xml 176290 159533 HGNC:2907 "ENST00000341267.9|NM_003836.7" +HGNC:2907 DLK1 delta like non-canonical Notch ligand 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "FA1|pG2|Pref-1|ZOG|Delta1" "delta-like homolog (Drosophila)|delta-like 1 homolog (Drosophila)" 1998-12-09 2016-05-16 2023-01-20 8788 ENSG00000185559 OTTHUMG00000171600 uc001yhs.5 U15979 NM_001317172 "CCDS81852|CCDS9963" P80370 "8095043|7925474" MGI:94900 RGD:619931 LRG_1044|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1044.xml 176290 159533 HGNC:2907 "ENST00000341267.9|NM_003836.7" HGNC:21113 DLK2 delta like non-canonical Notch ligand 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MGC2487 EGFL9 "EGF-like-domain, multiple 9|delta-like 2 homolog (Drosophila)" 2003-05-20 2007-07-05 2016-05-16 2023-01-20 65989 ENSG00000171462 OTTHUMG00000014735 uc003ovb.5 AK055380 NM_023932 "CCDS4897|CCDS75461" Q6UY11 MGI:2146838 RGD:1309143 HGNC:21113 "ENST00000372488.8|NM_023932.4" HGNC:2908 DLL1 delta like canonical Notch ligand 1 protein-coding gene gene with protein product Approved 6q27 06q27 "delta (Drosophila)-like 1|delta-like 1 (Drosophila)" 2000-02-11 2016-05-16 2023-01-20 28514 ENSG00000198719 OTTHUMG00000016078 uc063taz.1 AF003522 NM_005618 CCDS5313 O00548 MGI:104659 RGD:70949 606582 281953 HGNC:2908 "ENST00000366756.4|NM_005618.4" HGNC:2908 HGNC:2909 DLL3 delta like canonical Notch ligand 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 SCDO1 "delta (Drosophila)-like 3|delta-like 3 (Drosophila)" 2000-03-15 2016-05-16 2023-01-20 10683 ENSG00000090932 OTTHUMG00000183067 uc002olw.3 AF241373 NM_016941 "CCDS12537|CCDS12538" Q9NYJ7 "10364530|10742114" MGI:1096877 RGD:70953 602768 121110 ligandId:10560 HGNC:2909 "ENST00000356433.10|NM_203486.3" HGNC:2909 @@ -6707,20 +6708,20 @@ HGNC:40183 DLX6-AS2 DLX6 antisense RNA 2 non-coding RNA RNA, long non-coding App HGNC:53125 DM1-AS DM1 locus antisense RNA non-coding RNA RNA, long non-coding Approved 19q13.32 19q13.32 Antisense RNAs 1987 2017-02-16 2021-11-17 109729182 ENSG00000267395 OTTHUMG00000182333 NR_147193 28102759 HGNC:53125 HGNC:30536 DMAC1 distal membrane arm assembly component 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 MGC4730 "C9orf123|TMEM261" "chromosome 9 open reading frame 123|transmembrane protein 261|distal membrane arm assembly complex 1" Mitochondrial respiratory chain complex assembly factors 645 2004-04-15 2017-06-01 2021-02-05 2023-01-20 90871 ENSG00000137038 OTTHUMG00000019539 BC009510 NM_033428 CCDS34989 Q96GE9 "21666724|27626371" MGI:1914178 RGD:1309148 617261 HGNC:30536 "ENST00000358227.5|NM_033428.3" HGNC:49128 DMAC1P1 DMAC1 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 TMEM261P1 transmembrane protein 261 pseudogene 1 2013-09-11 2019-11-20 2019-11-20 2019-11-20 100289059 ENSG00000270814 OTTHUMG00000184800 NG_132555 PGOHUM00000246678 HGNC:49128 -HGNC:25496 DMAC2 distal membrane arm assembly component 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ10241 ATP5SL "ATP5S like|distal membrane arm assembly complex 2" Mitochondrial respiratory chain complex assembly factors 645 2007-12-13 2017-06-01 2021-02-05 2023-01-20 55101 ENSG00000105341 OTTHUMG00000182342 uc002oqw.3 AK001103 NM_018035 "CCDS82353|CCDS54271|CCDS54270|CCDS59389|CCDS59390|CCDS54269|CCDS82354|CCDS33032" Q9NW81 27626371 MGI:1913599 RGD:1549698 617262 HGNC:25496 "ENST00000221943.14|NM_018035.3" -HGNC:18799 DMAC2L distal membrane arm assembly component 2 like protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "HSU79253|ATPW" ATP5S "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B)|distal membrane arm assembly complex 2 like" 2003-01-15 2018-08-15 2021-02-05 2023-01-20 27109 ENSG00000125375 OTTHUMG00000170866 uc001wxw.3 U79253 NM_015684 "CCDS45102|CCDS32075|CCDS32076" Q99766 "11744738|8619474" MGI:1915305 RGD:1359208 618579 HGNC:18799 "ENST00000557421.7|NM_001382507.1" +HGNC:25496 DMAC2 distal membrane arm assembly component 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ10241 ATP5SL "ATP5S like|distal membrane arm assembly complex 2" Mitochondrial respiratory chain complex assembly factors 645 2007-12-13 2017-06-01 2021-02-05 2023-01-20 55101 ENSG00000105341 OTTHUMG00000182342 uc002oqw.3 AK001103 NM_018035 "CCDS82353|CCDS33032|CCDS59390|CCDS54269|CCDS54271|CCDS54270|CCDS59389|CCDS82354" Q9NW81 27626371 MGI:1913599 RGD:1549698 617262 HGNC:25496 "ENST00000221943.14|NM_018035.3" +HGNC:18799 DMAC2L distal membrane arm assembly component 2 like protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "HSU79253|ATPW" ATP5S "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B)|distal membrane arm assembly complex 2 like" 2003-01-15 2018-08-15 2021-02-05 2023-01-20 27109 ENSG00000125375 OTTHUMG00000170866 uc001wxw.3 U79253 NM_015684 "CCDS32076|CCDS32075|CCDS45102" Q99766 "11744738|8619474" MGI:1915305 RGD:1359208 618579 HGNC:18799 "ENST00000557421.7|NM_001382507.1" HGNC:18291 DMAP1 DNA methyltransferase 1 associated protein 1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "DNMAP1|FLJ11543|KIAA1425|DNMTAP1|EAF2|MEAF2|SWC4" "Myb/SANT domain containing|SRCAP complex|Tip60/Nua4 histone acetyltransferase complex subunits" "532|1329|1634" 2003-03-12 2023-01-20 55929 ENSG00000178028 OTTHUMG00000007577 uc001clq.2 AB037846 NM_019100 CCDS509 Q9NPF5 "10888872|10718198" MGI:1913483 RGD:1311295 605077 HGNC:18291 "ENST00000372289.7|NM_019100.5" -HGNC:2926 DMBT1 deleted in malignant brain tumors 1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "GP340|SALSA|Gp-340" "salivary agglutinin|salivary scavenger and agglutinin|vomeroglandin|hensin|muclin" Scavenger receptor cysteine rich domain containing 1404 1997-09-05 2023-01-20 1755 ENSG00000187908 OTTHUMG00000019185 uc057wnp.1 NM_004406 "CCDS91368|CCDS44491|CCDS44492|CCDS44490" Q9UGM3 "9288095|17548659" MGI:106210 RGD:61984 601969 HGNC:2926 "ENST00000338354.10|NM_001377530.1" +HGNC:2926 DMBT1 deleted in malignant brain tumors 1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "GP340|SALSA|Gp-340" "salivary agglutinin|salivary scavenger and agglutinin|vomeroglandin|hensin|muclin" Scavenger receptor cysteine rich domain containing 1404 1997-09-05 2023-01-20 1755 ENSG00000187908 OTTHUMG00000019185 uc057wnp.1 NM_004406 "CCDS44492|CCDS44490|CCDS44491|CCDS91368" Q9UGM3 "9288095|17548659" MGI:106210 RGD:61984 601969 HGNC:2926 "ENST00000338354.10|NM_001377530.1" HGNC:49497 DMBT1L1 deleted in malignant brain tumors 1 like 1 (pseudogene) pseudogene pseudogene Approved 10q26.13 10q26.13 DMBT1P1 deleted in malignant brain tumors 1 pseudogene 1 2013-12-20 2019-11-19 2019-11-19 2020-01-09 375940 ENSG00000176584 OTTHUMG00000185790 NR_003570 MGI:1918645 RGD:1593322 PGOHUM00000238954 HGNC:49497 -HGNC:19026 DMBX1 diencephalon/mesencephalon homeobox 1 protein-coding gene gene with protein product Approved 1p33 01p33 "PAXB|MBX|Atx" OTX3 orthodenticle homolog 3 (Drosophila) PRD class homeoboxes and pseudogenes 521 2002-08-05 2004-03-30 2004-03-29 2023-01-20 127343 ENSG00000197587 OTTHUMG00000007982 uc001cpw.4 AB037699 NM_001387775 "CCDS536|CCDS90942" Q8NFW5 11744391 MGI:2153518 RGD:1308265 607410 8528 HGNC:19026 "ENST00000360032.4|NM_172225.2" HGNC:19026 -HGNC:2927 DMC1 DNA meiotic recombinase 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 LIM15 "DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination|DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)" 1999-10-29 2013-05-02 2023-01-20 11144 ENSG00000100206 OTTHUMG00000151088 uc003avz.3 D63882 NM_007068 "CCDS63477|CCDS13973" Q14565 "8602360|8590282|17541404" MGI:105393 RGD:1307611 602721 470222 HGNC:2927 "ENST00000216024.7|NM_007068.4" HGNC:2927 -HGNC:2928 DMD dystrophin protein-coding gene gene with protein product Approved Xp21.2-p21.1 Xp21.2-p21.1 "BMD|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272" muscular dystrophy, Duchenne and Becker types MRX85 "dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272|mental retardation, X-linked 85" "Zinc fingers ZZ-type|MicroRNA protein coding host genes" "91|1691" 1986-01-01 2008-08-01 2023-03-15 1756 ENSG00000198947 OTTHUMG00000021336 uc004dda.2 AF047505 NM_004006 "CCDS48091|CCDS14231|CCDS55395|CCDS55394|CCDS14232|CCDS94586|CCDS94585|CCDS14230|CCDS14234|CCDS14229|CCDS14233" P11532 "3282674|3607877|23900271" MGI:94909 RGD:2507 "Leiden Muscular Dystrophy Pages|http://www.dmd.nl|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DMD|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DMD_d|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DMD|LRG_199|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_199.xml" 300377 121117 HGNC:2928 "ENST00000357033.9|NM_004006.3" HGNC:2928 +HGNC:19026 DMBX1 diencephalon/mesencephalon homeobox 1 protein-coding gene gene with protein product Approved 1p33 01p33 "PAXB|MBX|Atx" OTX3 orthodenticle homolog 3 (Drosophila) PRD class homeoboxes and pseudogenes 521 2002-08-05 2004-03-30 2004-03-29 2023-01-20 127343 ENSG00000197587 OTTHUMG00000007982 uc001cpw.4 AB037699 NM_001387775 "CCDS90942|CCDS536" Q8NFW5 11744391 MGI:2153518 RGD:1308265 607410 8528 HGNC:19026 "ENST00000360032.4|NM_172225.2" HGNC:19026 +HGNC:2927 DMC1 DNA meiotic recombinase 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 LIM15 "DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination|DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)" 1999-10-29 2013-05-02 2023-01-20 11144 ENSG00000100206 OTTHUMG00000151088 uc003avz.3 D63882 NM_007068 "CCDS13973|CCDS63477" Q14565 "8602360|8590282|17541404" MGI:105393 RGD:1307611 602721 470222 HGNC:2927 "ENST00000216024.7|NM_007068.4" HGNC:2927 +HGNC:2928 DMD dystrophin protein-coding gene gene with protein product Approved Xp21.2-p21.1 Xp21.2-p21.1 "BMD|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272" muscular dystrophy, Duchenne and Becker types MRX85 "dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272|mental retardation, X-linked 85" "Zinc fingers ZZ-type|MicroRNA protein coding host genes" "91|1691" 1986-01-01 2008-08-01 2023-03-15 1756 ENSG00000198947 OTTHUMG00000021336 uc004dda.2 AF047505 NM_004006 "CCDS14232|CCDS14233|CCDS14230|CCDS55394|CCDS94586|CCDS14231|CCDS94585|CCDS14234|CCDS48091|CCDS55395|CCDS14229" P11532 "3282674|3607877|23900271" MGI:94909 RGD:2507 "Leiden Muscular Dystrophy Pages|http://www.dmd.nl|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DMD|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DMD_d|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DMD|LRG_199|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_199.xml" 300377 121117 HGNC:2928 "ENST00000357033.9|NM_004006.3" HGNC:2928 HGNC:40185 DMD-AS3 DMD antisense RNA 3 non-coding RNA RNA, long non-coding Approved Xp21.1 Xp21.1 DMD antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100873916 ENSG00000236828 OTTHUMG00000021334 uc064ymj.1 DMD-AS3 HGNC:24475 DMGDH dimethylglycine dehydrogenase protein-coding gene gene with protein product Approved 5q14.1 05q14.1 ME2GLYDH 2004-05-12 2023-01-20 29958 ENSG00000132837 OTTHUMG00000108159 uc003kfs.5 AF111858 NM_013391 CCDS4044 Q9UI17 "10767172|11231903" MGI:1921379 RGD:620453 605849 244279 1.5.8.4 HGNC:24475 "ENST00000255189.8|NM_013391.3" HGNC:24475 -HGNC:25063 DMKN dermokine protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ZD52F10 2006-06-13 2023-01-20 93099 ENSG00000161249 OTTHUMG00000048101 uc002nzo.5 BC035311 NM_033317 "CCDS86747|CCDS86746|CCDS54251|CCDS46054|CCDS42549|CCDS54250|CCDS12463|CCDS86745|CCDS46053|CCDS46051|CCDS46052|CCDS77279|CCDS77278|CCDS54252" Q6E0U4 16374476 MGI:1920962 RGD:1561521 617211 HGNC:25063 "ENST00000339686.8|NM_033317.5" -HGNC:2932 DMP1 dentin matrix acidic phosphoprotein 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 dentin matrix acidic phosphoprotein SIBLING family 1279 1995-08-10 2008-08-29 2023-01-20 1758 ENSG00000152592 OTTHUMG00000130598 uc003hqv.4 U34037 NM_001079911 "CCDS43249|CCDS3623" Q13316 "8586437|9177774" MGI:94910 RGD:2508 600980 121129 HGNC:2932 "ENST00000339673.11|NM_004407.4" HGNC:2932 -HGNC:2933 DMPK DM1 protein kinase protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "DMK|DM1PK|MDPK|MT-PK" "dystrophia myotonica 1|DM protein kinase|myotonin protein kinase A|myotonic dystrophy associated protein kinase|thymopoietin homolog|Myotonin-protein kinase" "DM1|DM" "dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)|dystrophia myotonica protein kinase" AGC family kinases 1625 1997-10-10 2017-06-01 2023-03-15 1760 ENSG00000104936 OTTHUMG00000182334 uc002pdf.3 L19268 NM_004409 "CCDS74400|CCDS12674|CCDS46117|CCDS46118" Q09013 "1546325|1546326|27991661" MGI:94906 RGD:1309825 605377 121131 objectId:1505 2.7.11.1 HGNC:2933 "ENST00000291270.9|NM_004409.5" HGNC:2933 -HGNC:2934 DMRT1 doublesex and mab-3 related transcription factor 1 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "DMT1|CT154" DM domain expressed in testis 1 1998-08-13 2023-01-20 1761 ENSG00000137090 OTTHUMG00000019435 uc003zgv.5 AF130728 NM_021951 "CCDS87636|CCDS6442" Q9Y5R6 "9490411|10332030" MGI:1354733 RGD:621640 602424 168362 HGNC:2934 "ENST00000382276.8|NM_021951.3" +HGNC:25063 DMKN dermokine protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ZD52F10 2006-06-13 2023-01-20 93099 ENSG00000161249 OTTHUMG00000048101 uc002nzo.5 BC035311 NM_033317 "CCDS42549|CCDS54250|CCDS46051|CCDS46054|CCDS54252|CCDS46053|CCDS46052|CCDS86747|CCDS12463|CCDS77279|CCDS77278|CCDS86745|CCDS86746|CCDS54251" Q6E0U4 16374476 MGI:1920962 RGD:1561521 617211 HGNC:25063 "ENST00000339686.8|NM_033317.5" +HGNC:2932 DMP1 dentin matrix acidic phosphoprotein 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 dentin matrix acidic phosphoprotein SIBLING family 1279 1995-08-10 2008-08-29 2023-01-20 1758 ENSG00000152592 OTTHUMG00000130598 uc003hqv.4 U34037 NM_001079911 "CCDS3623|CCDS43249" Q13316 "8586437|9177774" MGI:94910 RGD:2508 600980 121129 HGNC:2932 "ENST00000339673.11|NM_004407.4" HGNC:2932 +HGNC:2933 DMPK DM1 protein kinase protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "DMK|DM1PK|MDPK|MT-PK" "dystrophia myotonica 1|DM protein kinase|myotonin protein kinase A|myotonic dystrophy associated protein kinase|thymopoietin homolog|Myotonin-protein kinase" "DM1|DM" "dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)|dystrophia myotonica protein kinase" AGC family kinases 1625 1997-10-10 2017-06-01 2023-03-15 1760 ENSG00000104936 OTTHUMG00000182334 uc002pdf.3 L19268 NM_004409 "CCDS46118|CCDS74400|CCDS46117|CCDS12674" Q09013 "1546325|1546326|27991661" MGI:94906 RGD:1309825 605377 121131 objectId:1505 2.7.11.1 HGNC:2933 "ENST00000291270.9|NM_004409.5" HGNC:2933 +HGNC:2934 DMRT1 doublesex and mab-3 related transcription factor 1 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "DMT1|CT154" DM domain expressed in testis 1 1998-08-13 2023-01-20 1761 ENSG00000137090 OTTHUMG00000019435 uc003zgv.5 AF130728 NM_021951 "CCDS6442|CCDS87636" Q9Y5R6 "9490411|10332030" MGI:1354733 RGD:621640 602424 168362 HGNC:2934 "ENST00000382276.8|NM_021951.3" HGNC:2935 DMRT2 doublesex and mab-3 related transcription factor 2 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 terra-like protein 1999-07-09 2023-01-20 10655 ENSG00000173253 OTTHUMG00000019437 uc064rvw.1 AF130729 NM_006557 "CCDS6444|CCDS6445" Q9Y5R5 10332030 MGI:1330307 RGD:1309047 604935 470226 HGNC:2935 "ENST00000358146.7|NM_181872.6" HGNC:2935 HGNC:13909 DMRT3 doublesex and mab-3 related transcription factor 3 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 testis-specific protein DMRTA3 DMRT-like family A3 2000-11-24 2001-12-07 2001-12-17 2023-01-20 58524 ENSG00000064218 OTTHUMG00000019436 uc003zgw.3 AJ301581 NM_021240 CCDS6443 Q9NQL9 "11543627|10729223" MGI:2449470 RGD:1306043 614754 470228 HGNC:13909 "ENST00000190165.3|NM_021240.4" HGNC:13826 DMRTA1 DMRT like family A1 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 DMRT-like family A1 2000-11-24 2016-01-19 2023-01-20 63951 ENSG00000176399 OTTHUMG00000019693 uc003zpp.2 AJ290954 NM_022160 CCDS6514 Q5VZB9 MGI:2653627 RGD:1309796 614803 HGNC:13826 "ENST00000325870.3|NM_022160.3" @@ -6731,15 +6732,15 @@ HGNC:31686 DMRTC1B DMRT like family C1B protein-coding gene gene with protein pr HGNC:13911 DMRTC2 DMRT like family C2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 DMRT-like family C2 2000-11-24 2016-01-19 2023-01-20 63946 ENSG00000142025 OTTHUMG00000182675 uc002ors.4 AJ291669 NM_001040283 CCDS33034 Q8IXT2 11863363 MGI:1918491 RGD:1583739 614806 HGNC:13911 "ENST00000269945.8|NM_001040283.3" HGNC:14603 DMTF1 cyclin D binding myb like transcription factor 1 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "DMP1|DMTF|hDMP1|MRUL" cyclin D-binding Myb-like protein cyclin D binding myb-like transcription factor 1 Myb/SANT domain containing 532 2001-02-28 2016-02-03 2023-01-20 9988 ENSG00000135164 OTTHUMG00000154135 uc003uih.3 AF084530 NM_021145 "CCDS5601|CCDS47633" Q9Y222 "10095122|24958102" MGI:1344415 RGD:70966 608491 HGNC:14603 "ENST00000331242.12|NM_001142327.2" HGNC:55864 DMTF1-AS1 DMTF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.12 07q21.12 Antisense RNAs 1987 2021-09-03 2021-09-03 101927420 ENSG00000224046 NR_136252 -HGNC:3382 DMTN dematin actin binding protein protein-coding gene gene with protein product Approved 8p21.3 08p21.3 DMT EPB49 erythrocyte membrane protein band 4.9 (dematin) 1995-09-29 2013-05-03 2013-05-03 2023-01-20 2039 ENSG00000158856 OTTHUMG00000097087 U28389 NM_001978 "CCDS47820|CCDS47821|CCDS78311|CCDS6020" Q08495 "8341682|12011427" MGI:99670 RGD:1311419 125305 470232 HGNC:3382 "ENST00000358242.6|NM_001387751.1" +HGNC:3382 DMTN dematin actin binding protein protein-coding gene gene with protein product Approved 8p21.3 08p21.3 DMT EPB49 erythrocyte membrane protein band 4.9 (dematin) 1995-09-29 2013-05-03 2013-05-03 2023-01-20 2039 ENSG00000158856 OTTHUMG00000097087 U28389 NM_001978 "CCDS47821|CCDS6020|CCDS78311|CCDS47820" Q08495 "8341682|12011427" MGI:99670 RGD:1311419 125305 470232 HGNC:3382 "ENST00000358242.6|NM_001387751.1" HGNC:2936 DMWD DM1 locus, WD repeat containing protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "DMR-N9|gene59|D19S593E" "dystrophia myotonica-containing WD repeat motif|dystrophia myotonica, WD repeat containing" WD repeat domain containing 362 1997-10-10 2017-06-01 2023-01-20 1762 ENSG00000185800 OTTHUMG00000169044 uc002pdj.2 L19267 NM_004943 CCDS33054 Q09019 "1302022|27991661" MGI:94907 RGD:1594179 609857 HGNC:2936 "ENST00000270223.7|NM_004943.2" HGNC:2937 DMXL1 Dmx like 1 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 1998-04-27 2016-01-14 2023-01-20 1657 ENSG00000172869 OTTHUMG00000128898 uc010jcl.1 AJ005821 NM_005509 "CCDS4125|CCDS75289" Q9Y485 10708522 MGI:2443926 RGD:1307692 605671 HGNC:2937 "ENST00000539542.6|NM_001290321.3" HGNC:55568 DMXL1-DT DMXL1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Divergent transcripts 1990 2021-04-14 2021-04-14 105379143 ENSG00000249494 NR_134250 -HGNC:2938 DMXL2 Dmx like 2 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "RC3|KIAA0856|DFNA71" rabconnectin 3 WD repeat domain containing 362 1998-04-27 2016-01-14 2023-01-20 23312 ENSG00000104093 OTTHUMG00000131749 uc002abf.4 AB020663 NM_015263 "CCDS91998|CCDS53945|CCDS10141|CCDS53946" Q8TDJ6 27657680 MGI:2444630 RGD:1586163 612186 457490 HGNC:2938 "ENST00000560891.6|NM_001378457.1" HGNC:2938 +HGNC:2938 DMXL2 Dmx like 2 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "RC3|KIAA0856|DFNA71" rabconnectin 3 WD repeat domain containing 362 1998-04-27 2016-01-14 2023-01-20 23312 ENSG00000104093 OTTHUMG00000131749 uc002abf.4 AB020663 NM_015263 "CCDS53945|CCDS53946|CCDS10141|CCDS91998" Q8TDJ6 27657680 MGI:2444630 RGD:1586163 612186 457490 HGNC:2938 "ENST00000560891.6|NM_001378457.1" HGNC:2938 HGNC:2939 DNA2 DNA replication helicase/nuclease 2 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 KIAA0083 DNA2L "DNA2 DNA replication helicase 2-like (yeast)|DNA replication helicase 2 homolog (yeast)" UPF1 like RNA helicases 1169 1996-06-10 2008-01-08 2013-05-13 2023-01-20 1763 ENSG00000138346 OTTHUMG00000018352 uc057tqx.1 D42046 NM_001080449 CCDS44415 P51530 "8938459|17032657|23352259" MGI:2443732 601810 332912 HGNC:2939 "ENST00000358410.8|NM_001080449.3" HGNC:2939 HGNC:30539 DNAAF1 dynein axonemal assembly factor 1 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "FLJ25330|ODA7|CILD13|swt|DAU1" outer row dynein assembly 7 homolog (Chlamydomonas) LRRC50 "leucine rich repeat containing 50|dynein, axonemal, assembly factor 1|dynein (axonemal) assembly factor 1" Axonemal dynein assembly factors 1627 2005-05-26 2011-06-09 2016-06-27 2023-01-20 123872 ENSG00000154099 OTTHUMG00000128517 uc002fhl.5 BC024009 NM_178452 CCDS10943 Q8NEP3 19944405 MGI:1915520 RGD:1310542 613190 218045 HGNC:30539 "ENST00000378553.10|NM_178452.6" HGNC:30539 HGNC:20188 DNAAF2 dynein axonemal assembly factor 2 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "FLJ10563|KTU|PF13|CILD10" kintoun C14orf104 "chromosome 14 open reading frame 104|dynein, axonemal, assembly factor 2|dynein (axonemal) assembly factor 2" Axonemal dynein assembly factors 1627 2002-12-20 2011-06-09 2016-06-27 2023-01-20 55172 ENSG00000165506 OTTHUMG00000152331 uc001wws.4 AK001425 NM_001083908 Q9NVR5 MGI:1923566 RGD:1310311 612517 171068 HGNC:20188 "ENST00000298292.13|NM_018139.3" HGNC:20188 -HGNC:30492 DNAAF3 dynein axonemal assembly factor 3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ40069|FLJ36139|PF22|PCD" "C19orf51|CILD2" "chromosome 19 open reading frame 51|ciliary dyskinesia, primary 2|dynein, axonemal, assembly factor 3|dynein (axonemal) assembly factor 3" Axonemal dynein assembly factors 1627 2006-08-08 2012-03-09 2016-06-27 2023-01-20 352909 ENSG00000167646 OTTHUMG00000128547 uc002qjj.3 AK097388 NM_178837 "CCDS58680|CCDS58679|CCDS12918|CCDS59422" Q8N9W5 22387996 MGI:3588207 RGD:2323487 614566 296690 HGNC:30492 "ENST00000524407.7|NM_001256715.2" HGNC:30492 +HGNC:30492 DNAAF3 dynein axonemal assembly factor 3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ40069|FLJ36139|PF22|PCD" "C19orf51|CILD2" "chromosome 19 open reading frame 51|ciliary dyskinesia, primary 2|dynein, axonemal, assembly factor 3|dynein (axonemal) assembly factor 3" Axonemal dynein assembly factors 1627 2006-08-08 2012-03-09 2016-06-27 2023-01-20 352909 ENSG00000167646 OTTHUMG00000128547 uc002qjj.3 AK097388 NM_178837 "CCDS59422|CCDS58679|CCDS58680|CCDS12918" Q8N9W5 22387996 MGI:3588207 RGD:2323487 614566 296690 HGNC:30492 "ENST00000524407.7|NM_001256715.2" HGNC:30492 HGNC:55292 DNAAF3-AS1 DNAAF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 Antisense RNAs 1987 2020-10-14 2020-10-14 101930593 ENSG00000267577 XR_001754014 HGNC:21493 DNAAF4 dynein axonemal assembly factor 4 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "EKN1|FLJ37882|CILD25" dynein, axonemal, assembly factor 4 DYX1C1 dyslexia susceptibility 1 candidate 1 "Tetratricopeptide repeat domain containing|Axonemal dynein assembly factors" "769|1627" 2003-10-10 2017-03-20 2017-03-20 2023-01-20 161582 ENSG00000256061 OTTHUMG00000132008 uc002adc.3 NM_130810 "CCDS32243|CCDS32244|CCDS10154" Q8WXU2 "12954984|23872636|28041644" MGI:1914935 RGD:1549760 608706 360484 HGNC:21493 "ENST00000321149.7|NM_130810.4" HGNC:21493 HGNC:43019 DNAAF4-CCPG1 DNAAF4-CCPG1 readthrough (NMD candidate) other readthrough Approved 15q21.3 15q21.3 DYX1C1-CCPG1 DYX1C1-CCPG1 readthrough (NMD candidate) 2011-09-23 2017-03-23 2017-03-23 2017-03-23 100533483 ENSG00000261771 OTTHUMG00000172694 uc059jmd.1 NR_037923 HGNC:43019 @@ -6747,11 +6748,11 @@ HGNC:26013 DNAAF5 dynein axonemal assembly factor 5 protein-coding gene gene wit HGNC:28570 DNAAF6 dynein axonemal assembly factor 6 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "MGC35261|NYSAR97|TWISTER" sarcoma antigen NY-SAR-97 "CXorf41|PIH1D3" "chromosome X open reading frame 41|PIH1 domain containing 3" Axonemal dynein assembly factors 1627 2004-09-08 2019-12-17 2019-12-17 2023-01-20 139212 ENSG00000080572 OTTHUMG00000022160 uc004enc.3 AL136112 NM_173494 CCDS14528 Q9NQM4 "28041644|12601173|24421334|28176794|29741156" MGI:3607720 RGD:1566312 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf41 300933 476289 HGNC:28570 "ENST00000372453.8|NM_173494.2" HGNC:28570 HGNC:25081 DNAAF8 dynein axonemal assembly factor 8 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ43261|DKFZp686H2240" C16orf71 chromosome 16 open reading frame 71 Axonemal dynein assembly factors 1627 2006-06-13 2021-01-22 2021-01-22 2023-01-20 146562 ENSG00000166246 OTTHUMG00000129480 uc002cxn.4 AF447587 NM_139170 CCDS10521 Q8IYS4 12477932 MGI:1921934 RGD:1359596 HGNC:25081 "ENST00000299320.10|NM_139170.3" HGNC:17721 DNAAF9 dynein axonemal assembly factor 9 protein-coding gene gene with protein product Approved 20p13 20p13 DKFZp434N061 shulin C20orf194 chromosome 20 open reading frame 194 Axonemal dynein assembly factors 1627 2003-01-30 2021-01-22 2021-01-22 2023-01-20 25943 ENSG00000088854 OTTHUMG00000031742 uc002wii.4 AL110249 NM_001009984 CCDS42851 Q5TEA3 33632841 MGI:1923029 RGD:1565616 614146 HGNC:17721 "ENST00000252032.10|NM_001009984.3" -HGNC:25176 DNAAF10 dynein axonemal assembly factor 10 protein-coding gene gene with protein product Approved 2p14 02p14 "FLJ31741|Monad" WDR92 WD repeat domain 92 "WD repeat domain containing|Axonemal dynein assembly factors" "362|1627" 2007-07-11 2021-01-22 2021-01-22 2023-01-20 116143 ENSG00000243667 OTTHUMG00000152561 uc002see.3 AK056303 NM_138458 "CCDS1884|CCDS58712" Q96MX6 16487927 MGI:2144224 RGD:1563863 610729 HGNC:25176 "ENST00000295121.11|NM_138458.4" +HGNC:25176 DNAAF10 dynein axonemal assembly factor 10 protein-coding gene gene with protein product Approved 2p14 02p14 "FLJ31741|Monad" WDR92 WD repeat domain 92 "WD repeat domain containing|Axonemal dynein assembly factors" "362|1627" 2007-07-11 2021-01-22 2021-01-22 2023-01-20 116143 ENSG00000243667 OTTHUMG00000152561 uc002see.3 AK056303 NM_138458 "CCDS58712|CCDS1884" Q96MX6 16487927 MGI:2144224 RGD:1563863 610729 HGNC:25176 "ENST00000295121.11|NM_138458.4" HGNC:16725 DNAAF11 dynein axonemal assembly factor 11 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "TSLRP|LRTP|CILD19|tilB" "leucine rich testes protein|seahorse" LRRC6 leucine rich repeat containing 6 Axonemal dynein assembly factors 1627 2004-07-09 2021-01-22 2021-01-22 2023-01-20 23639 ENSG00000129295 OTTHUMG00000164646 uc064qhs.1 U60666 NM_012472 CCDS6365 Q86X45 "10775177|23122589" MGI:1859553 RGD:1559937 614930 317373 HGNC:16725 "ENST00000620350.5|NM_012472.6" HGNC:16725 HGNC:51151 DNAAF11P1 DNAAF11 pseudogene 1 pseudogene pseudogene Approved 11p12 11p12 LRRC6P1 leucine rich repeat containing 6 pseudogene 1 2014-07-30 2021-03-24 2021-03-24 2021-03-24 100420589 ENSG00000254784 OTTHUMG00000166456 NG_024476 PGOHUM00000290873 HGNC:51151 HGNC:2940 DNAH1 dynein axonemal heavy chain 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "XLHSRF-1|DNAHC1|HDHC7|HL-11|HL11" dynein, axonemal, heavy polypeptide 1 Dyneins, axonemal inner arm I1/f complex subunits 2032 1995-11-15 2016-03-02 2023-01-20 25981 ENSG00000114841 OTTHUMG00000158378 uc011bef.3 U61738 NM_015512 CCDS46842 Q9P2D7 "8812413|9256245" MGI:107721 RGD:621795 603332 408654 HGNC:2940 "ENST00000420323.7|NM_015512.5" HGNC:2940 -HGNC:2948 DNAH2 dynein axonemal heavy chain 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "KIAA1503|FLJ46675" DNHD3 "dynein, axonemal, heavy polypeptide 2|dynein heavy chain domain 3" Dyneins, axonemal inner arm I1/f complex subunits 2032 1995-11-15 2016-03-02 2023-01-20 146754 ENSG00000183914 OTTHUMG00000178020 uc060avj.1 "U83570|AK128517" NM_020877 "CCDS32551|CCDS76937" Q9P225 "9256245|30811583" MGI:107731 RGD:1565087 603333 HGNC:2948 "ENST00000572933.6|NM_020877.5" HGNC:2948 +HGNC:2948 DNAH2 dynein axonemal heavy chain 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "KIAA1503|FLJ46675" DNHD3 "dynein, axonemal, heavy polypeptide 2|dynein heavy chain domain 3" Dyneins, axonemal inner arm I1/f complex subunits 2032 1995-11-15 2016-03-02 2023-01-20 146754 ENSG00000183914 OTTHUMG00000178020 uc060avj.1 "U83570|AK128517" NM_020877 "CCDS76937|CCDS32551" Q9P225 "9256245|30811583" MGI:107731 RGD:1565087 603333 HGNC:2948 "ENST00000572933.6|NM_020877.5" HGNC:2948 HGNC:2949 DNAH3 dynein axonemal heavy chain 3 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "Dnahc3b|DLP3|Hsadhc3|DKFZp434N074" dynein, axonemal, heavy polypeptide 3 Dyneins, axonemal inner arm I1/f complex subunits 2032 1995-11-15 2016-03-02 2023-01-20 55567 ENSG00000158486 OTTHUMG00000090677 uc010vbe.3 U83574 NM_017539 "CCDS10594|CCDS92121" Q8TD57 "9256245|9373155" MGI:2683040 RGD:1305855 603334 HGNC:2949 "ENST00000698260.1|NM_001347886.2" HGNC:2950 DNAH5 dynein axonemal heavy chain 5 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "Dnahc5|HL1|PCD|CILD3|KTGNR" dynein heavy chain 5 dynein, axonemal, heavy polypeptide 5 Dyneins, axonemal outer arm complex subunits 2031 1995-11-15 2016-03-02 2023-01-20 1767 ENSG00000039139 OTTHUMG00000090533 uc003jfd.4 AJ132090 NM_001369 CCDS3882 Q8TE73 "9256245|11788826" MGI:107718 RGD:1560828 603335 121137 HGNC:2950 "ENST00000265104.5|NM_001369.3" HGNC:2950 HGNC:2951 DNAH6 dynein axonemal heavy chain 6 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "Dnahc6|HL-2|FLJ37357" DNHL1 "dynein, axonemal, heavy polypeptide 6|dynein heavy chain-like 1" Dyneins, axonemal inner arm I1/f complex subunits 2032 1995-11-15 2016-03-02 2023-01-20 1768 ENSG00000115423 OTTHUMG00000128957 uc010fgb.3 U61736 NM_001370 CCDS46348 Q9C0G6 8812413 MGI:107744 RGD:621797 603336 HGNC:2951 "ENST00000389394.8|NM_001370.2" HGNC:2951 @@ -6760,18 +6761,18 @@ HGNC:2952 DNAH8 dynein axonemal heavy chain 8 protein-coding gene gene with prot HGNC:40188 DNAH8-AS1 DNAH8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 lnc-SAYSD1-1 Antisense RNAs 1987 2019-07-25 2023-02-02 100131047 ENSG00000231150 OTTHUMG00000014637 NR_038401 33672425 HGNC:40188 HGNC:55663 DNAH8-DT DNAH8 divergent transcript non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 Divergent transcripts 1990 2021-06-30 2021-06-30 121832808 ENSG00000236355 XR_007059572 HGNC:2953 DNAH9 dynein axonemal heavy chain 9 protein-coding gene gene with protein product Approved 17p12 17p12 "Dnahc9|KIAA0357|HL20|HL-20|DNAL1|DYH9" DNAH17L "dynein, axonemal, heavy polypeptide 17-like|dynein, axonemal, heavy polypeptide 9" Dyneins, axonemal outer arm complex subunits 2031 1997-02-05 2016-03-02 2023-01-20 1770 ENSG00000007174 OTTHUMG00000130383 uc002gne.3 U61740 NM_001372 "CCDS11160|CCDS11161" Q9NYC9 "8812413|11247663" MGI:1289279 RGD:621799 603330 HGNC:2953 "ENST00000262442.9|NM_001372.4" HGNC:2953 -HGNC:2941 DNAH10 dynein axonemal heavy chain 10 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ43808 dynein, axonemal, heavy polypeptide 10 Dyneins, axonemal inner arm I1/f complex subunits 2032 2000-07-31 2016-03-02 2023-01-20 196385 ENSG00000197653 OTTHUMG00000154477 uc001uft.5 AJ132089 NM_001372106 "CCDS9255|CCDS91767" Q8IVF4 MGI:1860299 RGD:619988 605884 470234 HGNC:2941 "ENST00000673944.1|NM_001372106.1" +HGNC:2941 DNAH10 dynein axonemal heavy chain 10 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ43808 dynein, axonemal, heavy polypeptide 10 Dyneins, axonemal inner arm I1/f complex subunits 2032 2000-07-31 2016-03-02 2023-01-20 196385 ENSG00000197653 OTTHUMG00000154477 uc001uft.5 AJ132089 NM_001372106 "CCDS91767|CCDS9255" Q8IVF4 MGI:1860299 RGD:619988 605884 470234 HGNC:2941 "ENST00000673944.1|NM_001372106.1" HGNC:37121 DNAH10OS dynein axonemal heavy chain 10 opposite strand protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ45278 dynein, axonemal, heavy chain 10 opposite strand (non-protein coding) 2009-08-15 2016-03-02 2016-03-02 642797 ENSG00000250091 OTTHUMG00000162010 uc058uvm.1 AK127211 P0CZ25 19726446 HGNC:2942 DNAH11 dynein axonemal heavy chain 11 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "Dnahc11|DPL11|CILD7|DNAHC11|DNAHBL|DNHBL" "dynein, ciliary, heavy chain 11|dynein, heavy chain beta-like" dynein, axonemal, heavy polypeptide 11 Dyneins, axonemal outer arm complex subunits 2031 1999-02-15 2016-03-02 2023-01-20 8701 ENSG00000105877 OTTHUMG00000152524 uc031swp.2 U83569 NM_003777 CCDS64602 Q96DT5 9256245 MGI:1100864 RGD:621088 603339 121134 HGNC:2942 "ENST00000409508.8|NM_001277115.2" HGNC:2942 -HGNC:2943 DNAH12 dynein axonemal heavy chain 12 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "DLP12|Dnahc3|HL-19|hdhc3|DHC3|FLJ40427|FLJ44290" "DNHD2|DNAH12L|DNAH7L" "dynein, axonemal, heavy polypeptide 12|dynein heavy chain domain 2|dynein heavy domain 2|dynein, axonemal, heavy chain 12-like|dynein, axonemal, heavy chain 7-like" Dyneins, axonemal inner arm I1/f complex subunits 2032 1999-02-15 2016-03-02 2023-03-15 201625 ENSG00000174844 OTTHUMG00000158598 uc032rop.2 "U53532|AK126276" NM_178504 "CCDS33771|CCDS93294" Q6ZR08 "8812413|8666668" MGI:107720 RGD:619990 603340 HGNC:2943 "ENST00000495027.6|NM_001366028.2" -HGNC:2945 DNAH14 dynein axonemal heavy chain 14 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "Dnahc14|HL-18|HL18|DKFZp781B1548|MGC27277" C1orf67 "dynein, axonemal, heavy polypeptide 14|chromosome 1 open reading frame 67" Dyneins, axonemal inner arm I1/f complex subunits 2032 1997-02-05 2016-03-02 2023-03-15 127602 ENSG00000185842 OTTHUMG00000037447 uc001how.3 U61741 NM_001373 "CCDS44322|CCDS41472|CCDS86053|CCDS91163" Q0VDD8 8812413 MGI:2444525 RGD:1582826 603341 HGNC:2945 "ENST00000682510.1|NM_001367479.1" +HGNC:2943 DNAH12 dynein axonemal heavy chain 12 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "DLP12|Dnahc3|HL-19|hdhc3|DHC3|FLJ40427|FLJ44290" "DNHD2|DNAH12L|DNAH7L" "dynein, axonemal, heavy polypeptide 12|dynein heavy chain domain 2|dynein heavy domain 2|dynein, axonemal, heavy chain 12-like|dynein, axonemal, heavy chain 7-like" Dyneins, axonemal inner arm I1/f complex subunits 2032 1999-02-15 2016-03-02 2023-03-15 201625 ENSG00000174844 OTTHUMG00000158598 uc032rop.2 "U53532|AK126276" NM_178504 "CCDS93294|CCDS33771" Q6ZR08 "8812413|8666668" MGI:107720 RGD:619990 603340 HGNC:2943 "ENST00000495027.6|NM_001366028.2" +HGNC:2945 DNAH14 dynein axonemal heavy chain 14 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "Dnahc14|HL-18|HL18|DKFZp781B1548|MGC27277" C1orf67 "dynein, axonemal, heavy polypeptide 14|chromosome 1 open reading frame 67" Dyneins, axonemal inner arm I1/f complex subunits 2032 1997-02-05 2016-03-02 2023-03-15 127602 ENSG00000185842 OTTHUMG00000037447 uc001how.3 U61741 NM_001373 "CCDS91163|CCDS86053|CCDS44322|CCDS41472" Q0VDD8 8812413 MGI:2444525 RGD:1582826 603341 HGNC:2945 "ENST00000682510.1|NM_001367479.1" HGNC:2946 DNAH17 dynein axonemal heavy chain 17 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "DNEL2|FLJ40457" DNAHL1 "dynein, axonemal, heavy polypeptide 17|dynein, axonemal, heavy chain like 1|dynein, axonemal, heavy like 1" Dyneins, axonemal outer arm complex subunits 2031 1999-02-12 2016-03-02 2023-03-15 8632 ENSG00000187775 OTTHUMG00000150216 uc010dhp.2 AJ000522 NM_173628 CCDS11757 Q9UFH2 9545504 MGI:1917176 RGD:1563805 610063 HGNC:2946 "ENST00000389840.7|NM_173628.4" HGNC:2946 HGNC:48594 DNAH17-AS1 DNAH17 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Antisense RNAs 1987 2013-05-21 2013-05-21 2020-10-15 100996295 ENSG00000267432 OTTHUMG00000177638 NR_102401 DNAH17-AS1 HGNC:48594 -HGNC:2954 DNAI1 dynein axonemal intermediate chain 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "DIC1|PCD|CILD1" dynein, axonemal, intermediate polypeptide 1 "WD repeat domain containing|Dyneins, axonemal outer arm complex subunits" "362|2031" 2000-06-16 2016-03-02 2023-01-20 27019 ENSG00000122735 OTTHUMG00000019825 uc033cpd.2 AF091619 NM_012144 "CCDS75829|CCDS6557" Q9UI46 "10577904|21953912" MGI:1916172 RGD:1565671 604366 121143 HGNC:2954 "ENST00000242317.9|NM_012144.4" HGNC:2954 +HGNC:2954 DNAI1 dynein axonemal intermediate chain 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "DIC1|PCD|CILD1" dynein, axonemal, intermediate polypeptide 1 "WD repeat domain containing|Dyneins, axonemal outer arm complex subunits" "362|2031" 2000-06-16 2016-03-02 2023-01-20 27019 ENSG00000122735 OTTHUMG00000019825 uc033cpd.2 AF091619 NM_012144 "CCDS6557|CCDS75829" Q9UI46 "10577904|21953912" MGI:1916172 RGD:1565671 604366 121143 HGNC:2954 "ENST00000242317.9|NM_012144.4" HGNC:2954 HGNC:18744 DNAI2 dynein axonemal intermediate chain 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "CILD9|DIC2" dynein intermediate chain 2 dynein, axonemal, intermediate polypeptide 2 "WD repeat domain containing|Dyneins, axonemal outer arm complex subunits" "362|2031" 2002-06-12 2016-03-02 2023-01-20 64446 ENSG00000171595 OTTHUMG00000178578 uc002jkf.4 AF250288 NM_023036 "CCDS58589|CCDS11697" Q9GZS0 "11153919|21953912" MGI:2685574 RGD:1359602 605483 169908 HGNC:18744 "ENST00000311014.11|NM_023036.6" HGNC:18744 -HGNC:30711 DNAI3 dynein axonemal intermediate chain 3 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "DIC3|FLJ30067|NYD-SP29" WDR63 WD repeat domain 63 "WD repeat domain containing|Dyneins, axonemal inner arm I1/f complex subunits" "362|2032" 2005-05-13 2020-05-04 2020-05-04 2023-04-14 126820 ENSG00000162643 OTTHUMG00000009953 uc001dkt.5 NM_145172 "CCDS702|CCDS72818" Q8IWG1 "21953912|35006274" MGI:3045269 RGD:1563105 617968 HGNC:30711 "ENST00000294664.11|NM_145172.5" +HGNC:30711 DNAI3 dynein axonemal intermediate chain 3 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "DIC3|FLJ30067|NYD-SP29" WDR63 WD repeat domain 63 "WD repeat domain containing|Dyneins, axonemal inner arm I1/f complex subunits" "362|2032" 2005-05-13 2020-05-04 2020-05-04 2023-04-14 126820 ENSG00000162643 OTTHUMG00000009953 uc001dkt.5 NM_145172 "CCDS72818|CCDS702" Q8IWG1 "21953912|35006274" MGI:3045269 RGD:1563105 617968 HGNC:30711 "ENST00000294664.11|NM_145172.5" HGNC:26252 DNAI4 dynein axonemal intermediate chain 4 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "DIC4|FLJ23129" WDR78 WD repeat domain 78 "WD repeat domain containing|Dyneins, axonemal inner arm I1/f complex subunits" "362|2032" 2005-07-18 2020-05-04 2020-05-04 2023-01-20 79819 ENSG00000152763 OTTHUMG00000009165 uc001dcx.5 BX648840 NM_024763 "CCDS44157|CCDS635" Q5VTH9 21953912 MGI:2385328 RGD:1311027 619156 HGNC:26252 "ENST00000371026.8|NM_024763.5" -HGNC:29599 DNAI7 dynein axonemal intermediate chain 7 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "LAS1|FLJ10921|PPP1R54" protein phosphatase 1, regulatory subunit 54 "CASC1|CFAP94" "cancer susceptibility 1|cilia and flagella associated protein 94" "Protein phosphatase 1 regulatory subunits|Dyneins, axonemal inner arm I1/f complex subunits" "694|2032" 2004-01-13 2021-02-08 2021-02-08 2023-01-20 55259 ENSG00000118307 OTTHUMG00000150195 uc001rgk.4 AK093102 NM_018272 "CCDS31759|CCDS55810|CCDS41762|CCDS41763|CCDS55811" Q6TDU7 14583591 MGI:2444480 RGD:1311213 616906 HGNC:29599 "ENST00000395987.8|NM_018272.5" +HGNC:29599 DNAI7 dynein axonemal intermediate chain 7 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "LAS1|FLJ10921|PPP1R54" protein phosphatase 1, regulatory subunit 54 "CASC1|CFAP94" "cancer susceptibility 1|cilia and flagella associated protein 94" "Protein phosphatase 1 regulatory subunits|Dyneins, axonemal inner arm I1/f complex subunits" "694|2032" 2004-01-13 2021-02-08 2021-02-08 2023-01-20 55259 ENSG00000118307 OTTHUMG00000150195 uc001rgk.4 AK093102 NM_018272 "CCDS55810|CCDS41762|CCDS55811|CCDS31759|CCDS41763" Q6TDU7 14583591 MGI:2444480 RGD:1311213 616906 HGNC:29599 "ENST00000395987.8|NM_018272.5" HGNC:5229 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "HSPF4|hdj-2|dj-2|NEDD7" neural precursor cell expressed, developmentally down-regulated 7 HSJ2 DnaJ (Hsp40) homolog, subfamily A, member 1 DNAJ (HSP40) heat shock proteins 584 1998-03-26 2015-11-19 2023-01-20 3301 ENSG00000086061 OTTHUMG00000019760 uc003zsd.2 L08069 NM_001314039 CCDS6533 P31689 "8334160|11147971" MGI:1270129 RGD:620942 602837 HGNC:5229 "ENST00000330899.5|NM_001539.4" HGNC:5229 HGNC:39337 DNAJA1P1 DnaJ heat shock protein family (Hsp40) member A1 pseudogene 1 pseudogene pseudogene Approved 13q21.1 13q21.1 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 1 2010-11-29 2015-11-19 2015-11-19 100129308 ENSG00000223717 OTTHUMG00000016999 NG_011453 PGOHUM00000248412 HGNC:39337 HGNC:39338 DNAJA1P2 DnaJ heat shock protein family (Hsp40) member A1 pseudogene 2 pseudogene pseudogene Approved 2q23.3 02q23.3 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 2 2010-11-29 2015-11-19 2015-11-19 100131207 ENSG00000236917 OTTHUMG00000153846 NG_021529 PGOHUM00000240391 HGNC:39338 @@ -6784,16 +6785,16 @@ HGNC:55375 DNAJA2-DT DNAJA2 divergent transcript non-coding RNA RNA, long non-co HGNC:11808 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 hTid-1 TID1 DnaJ (Hsp40) homolog, subfamily A, member 3 DNAJ (HSP40) heat shock proteins 584 1999-01-29 2015-11-19 2023-01-20 9093 ENSG00000103423 OTTHUMG00000129470 uc002cwk.4 AF061749 NM_001135110 "CCDS66930|CCDS10515|CCDS45400" Q96EY1 9683573 MGI:1933786 RGD:1306527 608382 HGNC:11808 "ENST00000262375.11|NM_005147.6" HGNC:11808 HGNC:14885 DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 PRO1472 DnaJ (Hsp40) homolog, subfamily A, member 4 DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2023-01-20 55466 ENSG00000140403 OTTHUMG00000143733 uc059mcv.1 AF116663 NM_018602 "CCDS45317|CCDS45316|CCDS10299" Q8WW22 11147971 MGI:1927638 RGD:1310035 HGNC:14885 "ENST00000394852.8|NM_001130182.2" HGNC:55412 DNAJA4-DT DNAJA4 divergent transcript non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 Divergent transcripts 1990 2021-01-06 2021-01-06 105370911 ENSG00000259708 XR_001751620 -HGNC:5270 DNAJB1 DnaJ heat shock protein family (Hsp40) member B1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "Hsp40|Sis1|RSPH16B" radial spoke 16 homolog B (Chlamydomonas) HSPF1 DnaJ (Hsp40) homolog, subfamily B, member 1 DNAJ (HSP40) heat shock proteins 584 1996-10-02 2015-11-19 2023-01-20 3337 ENSG00000132002 OTTHUMG00000183289 uc002myz.2 D49547 NM_006145 "CCDS12312|CCDS74295" P25685 "8975727|8250930" MGI:1931874 RGD:1304725 DNAJB1 604572 404128 HGNC:5270 "ENST00000254322.3|NM_006145.3" +HGNC:5270 DNAJB1 DnaJ heat shock protein family (Hsp40) member B1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "Hsp40|Sis1|RSPH16B" radial spoke 16 homolog B (Chlamydomonas) HSPF1 DnaJ (Hsp40) homolog, subfamily B, member 1 DNAJ (HSP40) heat shock proteins 584 1996-10-02 2015-11-19 2023-01-20 3337 ENSG00000132002 OTTHUMG00000183289 uc002myz.2 D49547 NM_006145 "CCDS74295|CCDS12312" P25685 "8975727|8250930" MGI:1931874 RGD:1304725 DNAJB1 604572 404128 HGNC:5270 "ENST00000254322.3|NM_006145.3" HGNC:24988 DNAJB1P1 DNAJB1 pseudogene 1 pseudogene pseudogene Approved 2q32.3 02q32.3 psiHSP40 DNAJB1P "DnaJ (Hsp40) homolog, subfamily B, member 1 pseudogene|DnaJ (Hsp40) homolog, subfamily B, member 1 pseudogene 1|DnaJ heat shock protein family (Hsp40) member B1 pseudogene 1" 2007-07-27 2010-02-25 2022-10-20 2022-10-20 171221 ENSG00000213946 OTTHUMG00000154320 NG_001318 11916264 PGOHUM00000240463 HGNC:24988 HGNC:56478 DNAJB1P2 DNAJB1 peudogene 2 pseudogene pseudogene Approved 3q13.2 03q13.2 2022-10-20 2022-10-20 127379689 ENSG00000243483 NG_115691 PGOHUM00000299135 -HGNC:5228 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 protein-coding gene gene with protein product Approved 2q35 02q35 "HSPF3|CMT2T" HSJ1 DnaJ (Hsp40) homolog, subfamily B, member 2 DNAJ (HSP40) heat shock proteins 584 1997-08-15 2015-11-19 2023-01-20 3300 ENSG00000135924 OTTHUMG00000133134 uc002vkx.2 NM_001039550 "CCDS46519|CCDS2439" P25686 "1599432|10516435" MGI:1928739 RGD:1591035 604139 317743 HGNC:5228 "ENST00000336576.10|NM_006736.6" HGNC:5228 +HGNC:5228 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 protein-coding gene gene with protein product Approved 2q35 02q35 "HSPF3|CMT2T" HSJ1 DnaJ (Hsp40) homolog, subfamily B, member 2 DNAJ (HSP40) heat shock proteins 584 1997-08-15 2015-11-19 2023-01-20 3300 ENSG00000135924 OTTHUMG00000133134 uc002vkx.2 NM_001039550 "CCDS2439|CCDS46519" P25686 "1599432|10516435" MGI:1928739 RGD:1591035 604139 317743 HGNC:5228 "ENST00000336576.10|NM_006736.6" HGNC:5228 HGNC:32397 DNAJB3 DnaJ heat shock protein family (Hsp40) member B3 other unknown Approved 2q37.1 02q37.1 HCG3 DnaJ (Hsp40) homolog, subfamily B, member 3 DNAJ (HSP40) heat shock proteins 584 2008-06-17 2015-11-19 2019-06-20 414061 ENSG00000227802 OTTHUMG00000059034 NM_001001394 Q8WWF6 MGI:1306822 RGD:1594215 HGNC:32397 HGNC:14886 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 HLJ1 DnaJ (Hsp40) homolog, subfamily B, member 4 DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2023-01-20 11080 ENSG00000162616 OTTHUMG00000040905 uc001dij.4 U40992 NM_001317099 CCDS684 Q9UDY4 "9546042|11147971" MGI:1914285 RGD:1305826 611327 HGNC:14886 "ENST00000370763.6|NM_007034.5" -HGNC:14887 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Hsc40 DnaJ (Hsp40) homolog, subfamily B, member 5 DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2023-01-20 25822 ENSG00000137094 OTTHUMG00000019840 uc003zvt.4 AF088982 NM_001135004 "CCDS47959|CCDS35007|CCDS47960" O75953 "10570961|11147971" MGI:1930018 RGD:1307453 611328 HGNC:14887 "ENST00000682809.1|NM_001349723.3" +HGNC:14887 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Hsc40 DnaJ (Hsp40) homolog, subfamily B, member 5 DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2023-01-20 25822 ENSG00000137094 OTTHUMG00000019840 uc003zvt.4 AF088982 NM_001135004 "CCDS47960|CCDS47959|CCDS35007" O75953 "10570961|11147971" MGI:1930018 RGD:1307453 611328 HGNC:14887 "ENST00000682809.1|NM_001349723.3" HGNC:49846 DNAJB5-DT DNAJB5 divergent transcript non-coding RNA RNA, long non-coding Approved 9p13.3 09p13.3 DNAJB5-AS1 DNAJB5 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-03-14 2018-03-22 2018-03-22 2018-03-22 101926900 ENSG00000281491 OTTHUMG00000189564 DA679664 NR_109756 HGNC:49846 HGNC:50449 DNAJB5P1 DnaJ heat shock protein family (Hsp40) member B5 pseudogene 1 pseudogene pseudogene Approved 9q21.2 09q21.2 DnaJ (Hsp40) homolog, subfamily B, member 5 pseudogene 1 2014-04-30 2015-11-19 2020-01-22 ENSG00000230335 OTTHUMG00000020048 PGOHUM00000236217 -HGNC:14888 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 MRJ LGMD1D "limb girdle muscular dystrophy 1D (autosomal dominant)|DnaJ (Hsp40) homolog, subfamily B, member 6" DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2023-01-20 10049 ENSG00000105993 OTTHUMG00000157242 uc003wnk.4 AB014888 NM_058246 "CCDS47755|CCDS87571|CCDS5946" O75190 "10319584|9915854|22366786" MGI:1344381 RGD:1308207 611332 296684 HGNC:14888 "ENST00000262177.9|NM_058246.4" HGNC:14888 +HGNC:14888 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 MRJ LGMD1D "limb girdle muscular dystrophy 1D (autosomal dominant)|DnaJ (Hsp40) homolog, subfamily B, member 6" DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2023-01-20 10049 ENSG00000105993 OTTHUMG00000157242 uc003wnk.4 AB014888 NM_058246 "CCDS47755|CCDS5946|CCDS87571" O75190 "10319584|9915854|22366786" MGI:1344381 RGD:1308207 611332 296684 HGNC:14888 "ENST00000262177.9|NM_058246.4" HGNC:14888 HGNC:54754 DNAJB6P1 DNAJB6 pseudogene 1 pseudogene pseudogene Approved 11q24.3 11q24.3 2020-01-08 2020-01-21 387820 ENSG00000254612 NG_030172 HGNC:54755 DNAJB6P2 DNAJB6 pseudogene 2 pseudogene pseudogene Approved 8p21.2 08p21.2 2020-01-08 2020-01-21 100289047 ENSG00000251203 HGNC:54756 DNAJB6P3 DNAJB6 pseudogene 3 pseudogene pseudogene Approved 2q35 02q35 2020-01-08 2020-01-21 101059990 ENSG00000231802 XR_007088093 @@ -6818,9 +6819,9 @@ HGNC:39808 DNAJC3-DT DNAJC3 divergent transcript non-coding RNA RNA, long non-co HGNC:5271 DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 MCG18 HSPF2 DnaJ (Hsp40) homolog, subfamily C, member 4 DNAJ (HSP40) heat shock proteins 584 1997-04-21 2015-11-19 2023-01-20 3338 ENSG00000110011 OTTHUMG00000167792 uc001nys.4 AF012106 NM_001307980 "CCDS76424|CCDS41666" Q9NNZ3 "9473517|11147971" MGI:1927346 RGD:1308693 604189 HGNC:5271 "ENST00000628077.3|NM_005528.4" HGNC:16235 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ00118|FLJ13070|DNAJC5A" CLN4 "ceroid-lipofuscinosis, neuronal 4 (Kufs disease)|DnaJ (Hsp40) homolog, subfamily C, member 5" "DNAJ (HSP40) heat shock proteins|MicroRNA protein coding host genes" "584|1691" 2001-07-17 2015-11-19 2023-01-20 80331 ENSG00000101152 OTTHUMG00000033007 uc002yhf.4 NM_025219 CCDS13546 Q9H3Z4 MGI:892995 RGD:620516 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_831|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_831.xml" 611203 279781 HGNC:16235 "ENST00000360864.9|NM_025219.3" HGNC:16235 HGNC:24138 DNAJC5B DnaJ heat shock protein family (Hsp40) member C5 beta protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "MGC26226|CSP-beta" DnaJ (Hsp40) homolog, subfamily C, member 5 beta DNAJ (HSP40) heat shock proteins 584 2004-03-16 2015-11-19 2023-01-20 85479 ENSG00000147570 OTTHUMG00000164470 uc003xvs.2 AF368276 NM_033105 CCDS6183 Q9UF47 29182667 MGI:1913576 RGD:1562486 613945 HGNC:24138 "ENST00000276570.10|NM_033105.6" -HGNC:24844 DNAJC5G DnaJ heat shock protein family (Hsp40) member C5 gamma protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ40417|CSP-gamma" DnaJ (Hsp40) homolog, subfamily C, member 5 gamma DNAJ (HSP40) heat shock proteins 584 2004-03-16 2015-11-19 2023-01-20 285126 ENSG00000163793 OTTHUMG00000097079 uc002rjl.2 AF368277 NM_173650 "CCDS1744|CCDS77397" Q8N7S2 MGI:3045263 RGD:1307426 613946 HGNC:24844 "ENST00000296097.8|NM_173650.3" -HGNC:15469 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA0473|PARK19" auxilin DnaJ (Hsp40) homolog, subfamily C, member 6 "DNAJ (HSP40) heat shock proteins|C2 tensin-type domain containing" "584|837" 2001-03-30 2015-11-19 2023-01-20 9829 ENSG00000116675 OTTHUMG00000009066 uc001dcd.3 AB007942 NM_001256864 "CCDS58004|CCDS30739|CCDS58005" O75061 "11147971|22563501" MGI:1919935 RGD:1309900 608375 356123 HGNC:15469 "ENST00000371069.5|NM_001256864.2" HGNC:15469 -HGNC:12392 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 TPR2 TTC2 DnaJ (Hsp40) homolog, subfamily C, member 7 "DNAJ (HSP40) heat shock proteins|Tetratricopeptide repeat domain containing" "584|769" 1997-12-12 2015-11-19 2023-01-20 7266 ENSG00000168259 OTTHUMG00000180862 uc002hyo.4 U46571 NM_001144766 "CCDS45678|CCDS45677" Q99615 "8836031|11147971" MGI:1928373 RGD:1303226 601964 HGNC:12392 "ENST00000457167.9|NM_003315.4" HGNC:12392 +HGNC:24844 DNAJC5G DnaJ heat shock protein family (Hsp40) member C5 gamma protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ40417|CSP-gamma" DnaJ (Hsp40) homolog, subfamily C, member 5 gamma DNAJ (HSP40) heat shock proteins 584 2004-03-16 2015-11-19 2023-01-20 285126 ENSG00000163793 OTTHUMG00000097079 uc002rjl.2 AF368277 NM_173650 "CCDS77397|CCDS1744" Q8N7S2 MGI:3045263 RGD:1307426 613946 HGNC:24844 "ENST00000296097.8|NM_173650.3" +HGNC:15469 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA0473|PARK19" auxilin DnaJ (Hsp40) homolog, subfamily C, member 6 "DNAJ (HSP40) heat shock proteins|C2 tensin-type domain containing" "584|837" 2001-03-30 2015-11-19 2023-01-20 9829 ENSG00000116675 OTTHUMG00000009066 uc001dcd.3 AB007942 NM_001256864 "CCDS58005|CCDS58004|CCDS30739" O75061 "11147971|22563501" MGI:1919935 RGD:1309900 608375 356123 HGNC:15469 "ENST00000371069.5|NM_001256864.2" HGNC:15469 +HGNC:12392 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 TPR2 TTC2 DnaJ (Hsp40) homolog, subfamily C, member 7 "DNAJ (HSP40) heat shock proteins|Tetratricopeptide repeat domain containing" "584|769" 1997-12-12 2015-11-19 2023-01-20 7266 ENSG00000168259 OTTHUMG00000180862 uc002hyo.4 U46571 NM_001144766 "CCDS45677|CCDS45678" Q99615 "8836031|11147971" MGI:1928373 RGD:1303226 601964 HGNC:12392 "ENST00000457167.9|NM_003315.4" HGNC:12392 HGNC:15470 DNAJC8 DnaJ heat shock protein family (Hsp40) member C8 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 SPF31 DnaJ (Hsp40) homolog, subfamily C, member 8 DNAJ (HSP40) heat shock proteins 584 2001-03-30 2015-11-19 2023-01-20 22826 ENSG00000126698 OTTHUMG00000003538 uc001bpn.4 AF083190 NM_014280 CCDS41292 O75937 11147971 MGI:1915848 RGD:1306024 HGNC:15470 "ENST00000263697.6|NM_014280.3" HGNC:19928 DNAJC8P1 DNAJC8 pseudogene 1 pseudogene pseudogene Approved 14q13.2 14q13.2 "DnaJ (Hsp40) homolog, subfamily C, member 8 pseudogene 1|DnaJ heat shock protein family (Hsp40) member C8 pseudogene 1" 2003-01-13 2022-10-31 2022-10-31 319111 ENSG00000259022 OTTHUMG00000171063 NG_002493 PGOHUM00000248133 HGNC:19928 HGNC:56540 DNAJC8P2 DNAJC8 pseudogene 2 pseudogene pseudogene Approved 3q22.3 03q22.3 2022-10-31 2022-10-31 100421438 ENSG00000240695 NG_025630 PGOHUM00000299188 @@ -6828,13 +6829,13 @@ HGNC:56541 DNAJC8P3 DNAJC8 pseudogene pseudogene pseudogene Approved 8q24.3 08q2 HGNC:56542 DNAJC8P4 DNAJC8 pseudogene 4 pseudogene pseudogene Approved 1p35.3 01p35.3 2022-10-31 2022-10-31 127460879 ENSG00000229820 PGOHUM00000296265 HGNC:19123 DNAJC9 DnaJ heat shock protein family (Hsp40) member C9 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "JDD1|SB73" DnaJ (Hsp40) homolog, subfamily C, member 9 DNAJ (HSP40) heat shock proteins 584 2002-08-16 2015-11-19 2023-01-20 23234 ENSG00000213551 OTTHUMG00000018461 uc010qkg.2 AF327347 NM_015190 CCDS7322 Q8WXX5 MGI:1915326 RGD:1305009 611206 HGNC:19123 "ENST00000372950.6|NM_015190.5" HGNC:31432 DNAJC9-AS1 DNAJC9 and MRPS16 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 bA537A6.3 C10orf103 "chromosome 10 open reading frame 103|DNAJC9 antisense RNA 1 (non-protein coding)|DNAJC9 antisense RNA 1" Antisense RNAs 1987 2004-05-27 2012-04-30 2021-12-10 2021-12-10 414245 ENSG00000236756 OTTHUMG00000018460 uc021ptm.2 BC043233 NR_038373 A6NH13 DNAJC9-AS1 HGNC:31432 -HGNC:24637 DNAJC10 DnaJ heat shock protein family (Hsp40) member C10 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "ERdj5|PDIA19" protein disulfide isomerase family A, member 19 DnaJ (Hsp40) homolog, subfamily C, member 10 "DNAJ (HSP40) heat shock proteins|Protein disulfide isomerases" "584|692" 2004-04-20 2015-11-19 2023-01-20 54431 ENSG00000077232 OTTHUMG00000154209 uc002uow.3 NM_018981 "CCDS74613|CCDS33345" Q8IXB1 "12411443|12446677" MGI:1914111 RGD:1307813 607987 HGNC:24637 "ENST00000264065.12|NM_018981.4" +HGNC:24637 DNAJC10 DnaJ heat shock protein family (Hsp40) member C10 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "ERdj5|PDIA19" protein disulfide isomerase family A, member 19 DnaJ (Hsp40) homolog, subfamily C, member 10 "DNAJ (HSP40) heat shock proteins|Protein disulfide isomerases" "584|692" 2004-04-20 2015-11-19 2023-01-20 54431 ENSG00000077232 OTTHUMG00000154209 uc002uow.3 NM_018981 "CCDS33345|CCDS74613" Q8IXB1 "12411443|12446677" MGI:1914111 RGD:1307813 607987 HGNC:24637 "ENST00000264065.12|NM_018981.4" HGNC:25570 DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 FLJ10737 DnaJ (Hsp40) homolog, subfamily C, member 11 DNAJ (HSP40) heat shock proteins 584 2004-06-03 2015-11-19 2023-01-20 55735 ENSG00000007923 OTTHUMG00000001443 uc001aof.3 AF306695 NM_018198 CCDS87 Q9NVH1 12964007 MGI:2443386 RGD:1307731 614827 HGNC:25570 "ENST00000377577.10|NM_018198.4" HGNC:28908 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 JDP1 J domain protein 1 DnaJ (Hsp40) homolog, subfamily C, member 12 DNAJ (HSP40) heat shock proteins 584 2004-04-15 2015-11-19 2023-01-20 56521 ENSG00000108176 OTTHUMG00000018339 uc001jnb.4 AF176012 NM_021800 "CCDS7271|CCDS7272" Q9UKB3 10760603 MGI:1353428 RGD:1591898 606060 HGNC:28908 "ENST00000225171.7|NM_021800.3" HGNC:28908 HGNC:30343 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "RME8|KIAA0678" DnaJ (Hsp40) homolog, subfamily C, member 13 "DNAJ (HSP40) heat shock proteins|Armadillo like helical domain containing" "584|1492" 2004-03-17 2015-11-19 2023-01-20 23317 ENSG00000138246 OTTHUMG00000159674 uc003eor.4 AB014578 NM_015268 CCDS33857 O75165 "12438707|31082451" MGI:2676368 RGD:1308046 614334 400443 HGNC:30343 "ENST00000260818.11|NM_015268.4" HGNC:30343 HGNC:24581 DNAJC14 DnaJ heat shock protein family (Hsp40) member C14 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "DNAJ|DRIP78|HDJ3|LIP6|FLJ32792" DnaJ (Hsp40) homolog, subfamily C, member 14 DNAJ (HSP40) heat shock proteins 584 2004-03-17 2015-11-19 2023-01-20 85406 ENSG00000135392 OTTHUMG00000170427 uc058pbx.1 AF141342 NM_032364 CCDS8894 Q6Y2X3 "11331877|11984006" MGI:1921580 RGD:620489 606092 HGNC:24581 "ENST00000678005.2|NM_032364.6" HGNC:20325 DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 MCJ DNAJD1 "DnaJ (Hsp40) homolog, subfamily D, member 1|DnaJ (Hsp40) homolog, subfamily C, member 15" DNAJ (HSP40) heat shock proteins 584 2003-04-10 2005-06-30 2015-11-19 2023-01-20 29103 ENSG00000120675 OTTHUMG00000016813 uc001uyy.4 AF126743 NM_013238 CCDS9388 Q9Y5T4 11358853 MGI:1913398 RGD:1307154 615339 HGNC:20325 "ENST00000379221.4|NM_013238.3" -HGNC:29157 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 KIAA0962 DnaJ (Hsp40) homolog, subfamily C, member 16 DNAJ (HSP40) heat shock proteins 584 2005-06-30 2015-11-19 2023-01-20 23341 ENSG00000116138 OTTHUMG00000002358 uc001aws.4 AB023179 NM_015291 "CCDS30606|CCDS72710" Q9Y2G8 MGI:2442146 RGD:1359395 619973 HGNC:29157 "ENST00000375847.8|NM_015291.4" +HGNC:29157 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 KIAA0962 DnaJ (Hsp40) homolog, subfamily C, member 16 DNAJ (HSP40) heat shock proteins 584 2005-06-30 2015-11-19 2023-01-20 23341 ENSG00000116138 OTTHUMG00000002358 uc001aws.4 AB023179 NM_015291 "CCDS72710|CCDS30606" Q9Y2G8 MGI:2442146 RGD:1359395 619973 HGNC:29157 "ENST00000375847.8|NM_015291.4" HGNC:25556 DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ10634 DnaJ (Hsp40) homolog, subfamily C, member 17 "DNAJ (HSP40) heat shock proteins|RNA binding motif containing" "584|725" 2005-06-30 2015-11-19 2023-01-20 55192 ENSG00000104129 OTTHUMG00000130065 uc001zms.3 AK001496 NM_018163 CCDS10065 Q9NVM6 29773831 MGI:1916658 RGD:1308015 616844 HGNC:25556 "ENST00000220496.9|NM_018163.3" HGNC:54782 DNAJC17P1 DNAJC17 pseudogene 1 pseudogene pseudogene Approved 2q32.3 02q32.3 2020-01-08 2020-01-21 645314 ENSG00000235218 NG_021279 HGNC:28429 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 MGC29463 DnaJ (Hsp40) homolog, subfamily C, member 18 DNAJ (HSP40) heat shock proteins 584 2005-06-30 2005-08-09 2015-11-19 2023-01-20 202052 ENSG00000170464 OTTHUMG00000129225 uc003len.4 AK024054 NM_152686 CCDS4214 Q9H819 MGI:1923844 RGD:1310237 HGNC:28429 "ENST00000302060.10|NM_152686.4" @@ -6857,23 +6858,23 @@ HGNC:30290 DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 protein-cod HGNC:42943 DNAJC27-AS1 DNAJC27 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 DNAJC27 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-07 2012-08-15 2012-10-12 729723 ENSG00000224165 OTTHUMG00000151981 uc061hen.1 NR_034113 DNAJC27-AS1 HGNC:42943 HGNC:1297 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 C21orf78 Orf28 C21orf55 "chromosome 21 open reading frame 55|DnaJ (Hsp40) homolog, subfamily C, member 28" DNAJ (HSP40) heat shock proteins 584 2000-05-23 2008-06-17 2015-11-19 2023-01-20 54943 ENSG00000177692 OTTHUMG00000065531 uc061zqn.1 AK000468 NM_001040192 CCDS13626 Q9NX36 MGI:2181053 RGD:1359589 HGNC:1297 "ENST00000381947.4|NM_001040192.3" HGNC:16410 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 WBSCR18 "Williams Beuren syndrome chromosome region 18|DnaJ (Hsp40) homolog, subfamily C, member 30" DNAJ (HSP40) heat shock proteins 584 2001-08-24 2008-06-17 2015-11-19 2023-01-20 84277 ENSG00000176410 OTTHUMG00000023290 uc003tys.2 AF412025 NM_032317 CCDS5556 Q96LL9 12073013 MGI:1913364 RGD:1595783 618202 HGNC:16410 "ENST00000395176.3|NM_032317.3" HGNC:16410 -HGNC:23247 DNAL1 dynein axonemal light chain 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "MGC12435|1700010H15RiK|CILD16" C14orf168 chromosome 14 open reading frame 168 Dyneins, axonemal outer arm complex subunits 2031 2003-10-30 2006-09-04 2016-03-02 2023-01-20 83544 ENSG00000119661 OTTHUMG00000171642 uc001xoq.5 BC005343 NM_031427 "CCDS55928|CCDS45134" Q4LDG9 15845866 MGI:1921462 RGD:1591349 610062 268087 HGNC:23247 "ENST00000553645.7|NM_031427.4" HGNC:23247 +HGNC:23247 DNAL1 dynein axonemal light chain 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "MGC12435|1700010H15RiK|CILD16" C14orf168 chromosome 14 open reading frame 168 Dyneins, axonemal outer arm complex subunits 2031 2003-10-30 2006-09-04 2016-03-02 2023-01-20 83544 ENSG00000119661 OTTHUMG00000171642 uc001xoq.5 BC005343 NM_031427 "CCDS45134|CCDS55928" Q4LDG9 15845866 MGI:1921462 RGD:1591349 610062 268087 HGNC:23247 "ENST00000553645.7|NM_031427.4" HGNC:23247 HGNC:2955 DNAL4 dynein axonemal light chain 4 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "dJ327J16|PIG27" "dynein, axonemal, light polypeptide 4|dynein, axonemal, light 4" Dyneins, axonemal outer arm complex subunits 2031 1999-10-19 2016-03-02 2023-01-20 10126 ENSG00000100246 OTTHUMG00000151025 uc003awj.4 AL035366 NM_005740 CCDS13979 O96015 10591208 MGI:1859217 RGD:1309099 610565 HGNC:2955 "ENST00000216068.9|NM_005740.3" HGNC:2955 HGNC:14353 DNALI1 dynein axonemal light intermediate chain 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "P28|hp28|dJ423B22.5" "inner dynein arm, homolog of chlamydomonas|dJ423B22.5 (axonemal dynein light chain (hp28))" dynein, axonemal, light intermediate polypeptide 1 2002-06-12 2016-03-02 2023-01-20 7802 ENSG00000163879 OTTHUMG00000004222 uc001cbj.3 AF006386 NM_003462 CCDS420 O14645 9284741 MGI:1922813 RGD:1309260 602135 HGNC:14353 "ENST00000652629.1|NM_003462.5" HGNC:2956 DNASE1 deoxyribonuclease 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 DNL1 deoxyribonuclease I 1992-07-08 2016-07-18 2023-01-20 1773 ENSG00000213918 OTTHUMG00000129426 uc002cvu.4 NM_001351825 CCDS10507 P24855 2349940 MGI:103157 RGD:2510 125505 353586 3.1.21.1 HGNC:2956 "ENST00000246949.10|NM_005223.4" HGNC:2956 HGNC:2957 DNASE1L1 deoxyribonuclease 1 like 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "DNAS1L1|XIB|DNASEX" DNase X DNL1L deoxyribonuclease I-like 1 1995-05-09 2016-07-18 2023-01-20 1774 ENSG00000013563 OTTHUMG00000033188 uc033fbl.1 L40817 NM_001009932 CCDS14747 P49184 "8541839|8654957" MGI:109628 RGD:1359588 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DNASE1L1 300081 HGNC:2957 "ENST00000369807.6|NM_001303620.2" HGNC:2958 DNASE1L2 deoxyribonuclease 1 like 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 DNAS1L2 deoxyribonuclease I like 2 1997-05-15 2016-07-18 2023-01-20 1775 ENSG00000167968 OTTHUMG00000177086 uc002cpo.4 U62647 NM_001374 CCDS42105 Q92874 "9205125|1577479" MGI:1913955 RGD:1583566 602622 HGNC:2958 "ENST00000320700.10|NM_001374.3" -HGNC:2959 DNASE1L3 deoxyribonuclease 1 like 3 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "DNAS1L3|LSD" DNase gamma deoxyribonuclease I like 3 1997-05-15 2016-07-18 2023-01-20 1776 ENSG00000163687 OTTHUMG00000159153 uc003djo.3 AF047354 NM_004944 "CCDS2886|CCDS58836" Q13609 "9205125|9714828|14646506" MGI:1314633 RGD:620669 602244 291856 HGNC:2959 "ENST00000394549.7|NM_004944.4" HGNC:2959 +HGNC:2959 DNASE1L3 deoxyribonuclease 1 like 3 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "DNAS1L3|LSD" DNase gamma deoxyribonuclease I like 3 1997-05-15 2016-07-18 2023-01-20 1776 ENSG00000163687 OTTHUMG00000159153 uc003djo.3 AF047354 NM_004944 "CCDS58836|CCDS2886" Q13609 "9205125|9714828|14646506" MGI:1314633 RGD:620669 602244 291856 HGNC:2959 "ENST00000394549.7|NM_004944.4" HGNC:2959 HGNC:2960 DNASE2 deoxyribonuclease 2, lysosomal protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "DNL|DNL2" deoxyribonuclease II, lysosomal 2001-06-22 2016-07-18 2023-01-20 1777 ENSG00000105612 OTTHUMG00000180535 uc002mvn.2 AF045937 NM_001375 CCDS12284 O00115 1586130 MGI:1329019 RGD:621457 126350 3.1.22.1 HGNC:2960 "ENST00000222219.8|NM_001375.3" -HGNC:28875 DNASE2B deoxyribonuclease 2 beta protein-coding gene gene with protein product Approved 1p31.1-p22.3 01p31.1-p22.3 DLAD deoxyribonuclease II beta 2004-12-02 2016-07-18 2023-01-20 58511 ENSG00000137976 OTTHUMG00000009860 uc001dju.2 AF274571 NM_021233 "CCDS44167|CCDS694" Q8WZ79 "12594037|11376952" MGI:1913283 RGD:70901 608057 HGNC:28875 "ENST00000370665.4|NM_021233.3" +HGNC:28875 DNASE2B deoxyribonuclease 2 beta protein-coding gene gene with protein product Approved 1p31.1-p22.3 01p31.1-p22.3 DLAD deoxyribonuclease II beta 2004-12-02 2016-07-18 2023-01-20 58511 ENSG00000137976 OTTHUMG00000009860 uc001dju.2 AF274571 NM_021233 "CCDS694|CCDS44167" Q8WZ79 "12594037|11376952" MGI:1913283 RGD:70901 608057 HGNC:28875 "ENST00000370665.4|NM_021233.3" HGNC:23799 DND1 DND microRNA-mediated repression inhibitor 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "MGC34750|RBMS4" dead end homolog 1 (zebrafish) RNA binding motif containing 725 2003-12-12 2013-07-31 2023-01-20 373863 ENSG00000256453 OTTHUMG00000129499 uc003lgt.4 AY321065 NM_194249 CCDS4236 Q8IYX4 12932328 MGI:2447763 RGD:1583648 609385 HGNC:23799 "ENST00000542735.2|NM_194249.3" HGNC:31444 DND1P1 DND microRNA-mediated repression inhibitor 1 pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 dead end homolog 1 pseudogene 1 2004-04-19 2015-06-26 2017-10-25 644157 ENSG00000264070 OTTHUMG00000178253 NG_022468 PGOHUM00000294454 HGNC:31444 HGNC:31445 DND1P2 DND microRNA-mediated repression inhibitor 1 pseudogene 2 pseudogene pseudogene Approved 17q21.31 17q21.31 dead end homolog 1 pseudogene 2 2004-04-19 2015-06-26 2015-06-26 644256 NG_022452 PGOHUM00000237092 HGNC:31445 HGNC:24456 DNER delta/notch like EGF repeat containing protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "UNQ26|bet" delta/notch-like EGF repeat containing 2006-10-26 2015-11-12 2023-01-20 92737 ENSG00000187957 OTTHUMG00000153637 uc002vpv.4 AY358891 NM_139072 CCDS33390 Q8NFT8 "11950833|11997712" MGI:2152889 RGD:1359385 607299 HGNC:24456 "ENST00000341772.5|NM_139072.4" -HGNC:26532 DNHD1 dynein heavy chain domain 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FLJ32752|FLJ46184|FLJ35709|DKFZp686J0796" "DHCD1|C11orf47|DNHD1L|CCDC35" "chromosome 11 open reading frame 47|dynein heavy chain domain 1-like|coiled-coil domain containing 35" 2005-11-01 2005-11-28 2023-01-20 144132 ENSG00000179532 OTTHUMG00000133403 uc001mdw.5 AK128064 NM_144666 "CCDS7767|CCDS44532" Q96M86 12975309 MGI:1924755 RGD:1584052 617277 HGNC:26532 "ENST00000254579.11|NM_144666.3" +HGNC:26532 DNHD1 dynein heavy chain domain 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FLJ32752|FLJ46184|FLJ35709|DKFZp686J0796" "DHCD1|C11orf47|DNHD1L|CCDC35" "chromosome 11 open reading frame 47|dynein heavy chain domain 1-like|coiled-coil domain containing 35" 2005-11-01 2005-11-28 2023-01-20 144132 ENSG00000179532 OTTHUMG00000133403 uc001mdw.5 AK128064 NM_144666 "CCDS44532|CCDS7767" Q96M86 12975309 MGI:1924755 RGD:1584052 617277 HGNC:26532 "ENST00000254579.11|NM_144666.3" HGNC:33879 DNLZ DNL-type zinc finger protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "RP11-413M3.2|ZIM17|bA413M3.2|TIMM15|HEP" "translocase of inner mitochondrial membrane 15 homolog (yeast)|HSP70 escort protein" C9orf151 chromosome 9 open reading frame 151 Zinc fingers 26 2007-12-18 2007-12-18 2023-01-20 728489 ENSG00000213221 OTTHUMG00000020931 uc004chf.3 AL592301 NM_001080849 CCDS35179 Q5SXM8 "21530495|22162012" MGI:106559 RGD:1308635 HGNC:33879 "ENST00000371738.4|NM_001080849.3" -HGNC:2972 DNM1 dynamin 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 DNM Pleckstrin homology domain containing 682 1992-07-09 2023-01-20 1759 ENSG00000106976 OTTHUMG00000020733 uc064wcg.1 L07807 NM_004408 "CCDS43882|CCDS6895|CCDS75912|CCDS75911|CCDS94491" Q05193 "2144893|9143509" MGI:107384 RGD:71096 602377 426934 3.6.5.5 HGNC:2972 "ENST00000372923.8|NM_004408.4" HGNC:2972 -HGNC:2973 DNM1L dynamin 1 like protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "DRP1|DVLP|HDYNIV|DYMPLE|VPS1" 2000-04-12 2016-07-05 2023-03-15 10059 ENSG00000087470 OTTHUMG00000169451 uc001rlf.4 AF000430 NM_012062 "CCDS81680|CCDS8728|CCDS61098|CCDS8730|CCDS61096|CCDS8729|CCDS61095" O00429 "9348079|9731200" MGI:1921256 RGD:620416 603850 331806 3.6.5.5 HGNC:2973 "ENST00000549701.6|NM_012062.5" HGNC:2973 +HGNC:2972 DNM1 dynamin 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 DNM Pleckstrin homology domain containing 682 1992-07-09 2023-01-20 1759 ENSG00000106976 OTTHUMG00000020733 uc064wcg.1 L07807 NM_004408 "CCDS75911|CCDS43882|CCDS6895|CCDS94491|CCDS75912" Q05193 "2144893|9143509" MGI:107384 RGD:71096 602377 426934 3.6.5.5 HGNC:2972 "ENST00000372923.8|NM_004408.4" HGNC:2972 +HGNC:2973 DNM1L dynamin 1 like protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "DRP1|DVLP|HDYNIV|DYMPLE|VPS1" 2000-04-12 2016-07-05 2023-03-15 10059 ENSG00000087470 OTTHUMG00000169451 uc001rlf.4 AF000430 NM_012062 "CCDS8728|CCDS81680|CCDS61098|CCDS61096|CCDS8730|CCDS61095|CCDS8729" O00429 "9348079|9731200" MGI:1921256 RGD:620416 603850 331806 3.6.5.5 HGNC:2973 "ENST00000549701.6|NM_012062.5" HGNC:2973 HGNC:21122 DNM1P5 dynamin 1 pseudogene 5 pseudogene pseudogene Approved 15q14 15q14 DNM1DN5@ DNM1DN5 "DNM1 duplicon 5|DNM1 pseudogene 5" 2003-12-22 2008-10-13 2015-04-07 2020-04-07 728770 ENSG00000278582 OTTHUMG00000188120 AJ576290 NG_009127 15008788 PGOHUM00000261186 HGNC:21122 HGNC:21126 DNM1P9 dynamin 1 pseudogene 9 pseudogene pseudogene Approved 15q24.3 15q24.3 DNM1DN9-1 "DNM1DN9@|DNM1DN9" "DNM1 duplicon 9 cluster|DNM1 duplicon 9|DNM1 pseudogene 9" 2003-12-22 2008-10-13 2015-04-07 2015-04-07 400403 AJ576256 NG_009125 15008788 HGNC:21126 HGNC:21134 DNM1P17 dynamin 1 pseudogene 17 pseudogene pseudogene Approved 10p11.23 10p11.23 DNM1DN17@ DNM1DN17 "DNM1 duplicon 17|DNM1 pseudogene 17" 2003-12-22 2008-10-15 2015-04-07 2015-04-07 100131084 ENSG00000250833 OTTHUMG00000017888 AJ576284 NG_009124 15008788 PGOHUM00000261091 HGNC:21134 @@ -6906,96 +6907,96 @@ HGNC:38801 DNM1P48 dynamin 1 pseudogene 48 pseudogene pseudogene Approved Yq11.2 HGNC:47040 DNM1P49 dynamin 1 pseudogene 49 pseudogene pseudogene Approved 15q24.2 15q24.2 DNM1DN8@ DNM1 pseudogene 49 2013-05-07 2015-04-07 2015-08-17 730058 ENSG00000261820 OTTHUMG00000172796 NG_033232 PGOHUM00000293023 HGNC:47040 HGNC:48499 DNM1P50 dynamin 1 pseudogene 50 pseudogene pseudogene Approved 15q13.2 15q13.2 DNM1 pseudogene 50 2013-05-16 2015-04-07 2020-04-20 101927579 ENSG00000259890 OTTHUMG00000175652 NR_145478 PGOHUM00000261168 HGNC:48499 HGNC:48500 DNM1P51 dynamin 1 pseudogene 51 pseudogene pseudogene Approved 15q25.2 15q25.2 DNM1 pseudogene 51 2013-05-16 2015-04-07 2016-02-03 125505920 ENSG00000235370 OTTHUMG00000172438 NG_081267 PGOHUM00000262075 -HGNC:2974 DNM2 dynamin 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "DYNII|DYN2|CMTDIB|CMTDI1|DI-CMTB|CMT2M" "dynamin II|cytoskeletal protein" "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 1996-10-11 2023-01-20 1785 ENSG00000079805 OTTHUMG00000180694 uc002mpu.3 NM_004945 "CCDS32908|CCDS59351|CCDS45968|CCDS45969|CCDS32907" P50570 "7590285|9143510" MGI:109547 RGD:2513 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_238|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_238.xml" DNM2 602378 121147 HGNC:2974 "ENST00000389253.9|NM_001005361.3" HGNC:2974 -HGNC:29125 DNM3 dynamin 3 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 KIAA0820 Dyna III "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2004-03-12 2023-01-20 26052 ENSG00000197959 OTTHUMG00000034913 uc001gif.5 AL136712 NM_015569 "CCDS91107|CCDS60356|CCDS44276|CCDS53431|CCDS86032" Q9UQ16 10048485 MGI:1341299 RGD:727949 611445 470236 HGNC:29125 "ENST00000627582.3|NM_015569.5" +HGNC:2974 DNM2 dynamin 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "DYNII|DYN2|CMTDIB|CMTDI1|DI-CMTB|CMT2M" "dynamin II|cytoskeletal protein" "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 1996-10-11 2023-01-20 1785 ENSG00000079805 OTTHUMG00000180694 uc002mpu.3 NM_004945 "CCDS32908|CCDS45968|CCDS32907|CCDS59351|CCDS45969" P50570 "7590285|9143510" MGI:109547 RGD:2513 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_238|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_238.xml" DNM2 602378 121147 HGNC:2974 "ENST00000389253.9|NM_001005361.3" HGNC:2974 +HGNC:29125 DNM3 dynamin 3 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 KIAA0820 Dyna III "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2004-03-12 2023-01-20 26052 ENSG00000197959 OTTHUMG00000034913 uc001gif.5 AL136712 NM_015569 "CCDS60356|CCDS91107|CCDS86032|CCDS44276|CCDS53431" Q9UQ16 10048485 MGI:1341299 RGD:727949 611445 470236 HGNC:29125 "ENST00000627582.3|NM_015569.5" HGNC:41494 DNM3-IT1 DNM3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q24.3 01q24.3 DNM3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874284 ENSG00000233540 OTTHUMG00000046154 uc057nib.1 NR_046845 DNM3-IT1 HGNC:41494 HGNC:41228 DNM3OS DNM3 opposite strand/antisense RNA non-coding RNA RNA, long non-coding Approved 1q24.3 01q24.3 MIR199A2HG MIR199A2 host gene (non-protein coding) DNM3-AS1 DNM3 antisense RNA 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2011-05-20 2011-11-14 2012-08-15 2017-03-10 100628315 ENSG00000230630 OTTHUMG00000040855 uc031prh.2 NR_038397 "19029138|20400975" DNM3OS HGNC:41228 -HGNC:30373 DNMBP dynamin binding protein protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "KIAA1010|Tuba|ARHGEF36" scaffold protein TUBA "Dbl family Rho GEFs|BAR and Dbl domain containing" "722|1924" 2004-04-05 2023-01-20 23268 ENSG00000107554 OTTHUMG00000018897 uc001kqj.2 AL833283 NM_015221 "CCDS81495|CCDS7485|CCDS81494" Q6XZF7 "10231032|14506234" MGI:1917352 RGD:1583840 611282 HGNC:30373 "ENST00000324109.9|NM_015221.4" HGNC:30373 +HGNC:30373 DNMBP dynamin binding protein protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "KIAA1010|Tuba|ARHGEF36" scaffold protein TUBA "Dbl family Rho GEFs|BAR and Dbl domain containing" "722|1924" 2004-04-05 2023-01-20 23268 ENSG00000107554 OTTHUMG00000018897 uc001kqj.2 AL833283 NM_015221 "CCDS81495|CCDS81494|CCDS7485" Q6XZF7 "10231032|14506234" MGI:1917352 RGD:1583840 611282 HGNC:30373 "ENST00000324109.9|NM_015221.4" HGNC:30373 HGNC:20431 DNMBP-AS1 DNMBP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 "FLJ40792|bA287G8.2" NCRNA00093 "non-protein coding RNA 93|DNMBP antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-09-03 2011-03-30 2012-08-15 2012-10-12 100188954 ENSG00000227695 OTTHUMG00000018898 uc001kqk.2 AK098111 NR_024130 DNMBP-AS1 HGNC:20431 -HGNC:2976 DNMT1 DNA methyltransferase 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MCMT|CXXC9" DNMT DNA (cytosine-5-)-methyltransferase 1 "Zinc fingers CXXC-type|7BS C5-cytosine DNA/RNA methyltransferases" "136|2060" 1991-06-04 2016-06-21 2023-01-20 1786 ENSG00000130816 OTTHUMG00000180397 uc002mng.4 X63692 NM_001379 "CCDS45958|CCDS12228" P26358 1594447 MGI:94912 RGD:620979 LRG_362|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_362.xml 126375 270026 objectId:2605 2.1.1.37 HGNC:2976 "ENST00000359526.9|NM_001130823.3" HGNC:2976 -HGNC:2978 DNMT3A DNA methyltransferase 3 alpha protein-coding gene gene with protein product Approved 2p23.3 02p23.3 DNA (cytosine-5-)-methyltransferase 3 alpha "PWWP domain containing|MicroRNA protein coding host genes|7BS C5-cytosine DNA/RNA methyltransferases" "1147|1691|2060" 1998-07-15 2016-06-21 2023-01-20 1788 ENSG00000119772 OTTHUMG00000094777 uc002rgd.5 NM_022552 "CCDS46232|CCDS92718|CCDS33157|CCDS1718" Q9Y6K1 "9662389|10433969" MGI:1261827 RGD:1303336 LRG_459|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_459.xml DNMT3A 602769 406016 objectId:2750 HGNC:2978 "ENST00000321117.10|NM_022552.5" HGNC:2978 +HGNC:2976 DNMT1 DNA methyltransferase 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MCMT|CXXC9" DNMT DNA (cytosine-5-)-methyltransferase 1 "Zinc fingers CXXC-type|7BS C5-cytosine DNA/RNA methyltransferases" "136|2060" 1991-06-04 2016-06-21 2023-01-20 1786 ENSG00000130816 OTTHUMG00000180397 uc002mng.4 X63692 NM_001379 "CCDS12228|CCDS45958" P26358 1594447 MGI:94912 RGD:620979 LRG_362|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_362.xml 126375 270026 objectId:2605 2.1.1.37 HGNC:2976 "ENST00000359526.9|NM_001130823.3" HGNC:2976 +HGNC:2978 DNMT3A DNA methyltransferase 3 alpha protein-coding gene gene with protein product Approved 2p23.3 02p23.3 DNA (cytosine-5-)-methyltransferase 3 alpha "PWWP domain containing|MicroRNA protein coding host genes|7BS C5-cytosine DNA/RNA methyltransferases" "1147|1691|2060" 1998-07-15 2016-06-21 2023-01-20 1788 ENSG00000119772 OTTHUMG00000094777 uc002rgd.5 NM_022552 "CCDS46232|CCDS1718|CCDS33157|CCDS92718" Q9Y6K1 "9662389|10433969" MGI:1261827 RGD:1303336 LRG_459|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_459.xml DNMT3A 602769 406016 objectId:2750 HGNC:2978 "ENST00000321117.10|NM_022552.5" HGNC:2978 HGNC:23164 DNMT3AP1 DNA methyltransferase 3A pseudogene 1 pseudogene pseudogene Approved 2p14 02p14 2004-08-20 2020-01-21 130802 ENSG00000224071 BN000391 NG_004680 15203217 HGNC:23164 -HGNC:2979 DNMT3B DNA methyltransferase 3 beta protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DNA (cytosine-5-)-methyltransferase 3 beta "PWWP domain containing|7BS C5-cytosine DNA/RNA methyltransferases" "1147|2060" 1998-07-15 2016-06-21 2023-01-20 1789 ENSG00000088305 OTTHUMG00000032226 uc002wyc.3 NM_006892 "CCDS13204|CCDS56183|CCDS13205|CCDS13207|CCDS56184|CCDS13206" Q9UBC3 "9662389|10433969" MGI:1261819 RGD:1303274 "DNMT3Bbase: Mutation registry for ICF syndrome|http://structure.bmc.lu.se/idbase/DNMT3Bbase/|LRG_56|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_56.xml" 602900 121150 HGNC:2979 "ENST00000328111.6|NM_006892.4" HGNC:2979 -HGNC:2980 DNMT3L DNA methyltransferase 3 like protein-coding gene gene with protein product Approved 21q22.3 21q22.3 MGC1090 cytosine-5-methyltransferase 3-like protein DNA (cytosine-5-)-methyltransferase 3-like 7BS C5-cytosine DNA/RNA methyltransferases 2060 2000-05-23 2016-06-21 2023-01-20 29947 ENSG00000142182 OTTHUMG00000086914 uc002zeh.2 AF194032 NM_013369 "CCDS46650|CCDS13705" Q9UJW3 10857753 MGI:1859287 RGD:1303239 606588 HGNC:2980 "ENST00000628202.3|NM_175867.3" +HGNC:2979 DNMT3B DNA methyltransferase 3 beta protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DNA (cytosine-5-)-methyltransferase 3 beta "PWWP domain containing|7BS C5-cytosine DNA/RNA methyltransferases" "1147|2060" 1998-07-15 2016-06-21 2023-01-20 1789 ENSG00000088305 OTTHUMG00000032226 uc002wyc.3 NM_006892 "CCDS13204|CCDS13207|CCDS13206|CCDS56183|CCDS13205|CCDS56184" Q9UBC3 "9662389|10433969" MGI:1261819 RGD:1303274 "DNMT3Bbase: Mutation registry for ICF syndrome|http://structure.bmc.lu.se/idbase/DNMT3Bbase/|LRG_56|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_56.xml" 602900 121150 HGNC:2979 "ENST00000328111.6|NM_006892.4" HGNC:2979 +HGNC:2980 DNMT3L DNA methyltransferase 3 like protein-coding gene gene with protein product Approved 21q22.3 21q22.3 MGC1090 cytosine-5-methyltransferase 3-like protein DNA (cytosine-5-)-methyltransferase 3-like 7BS C5-cytosine DNA/RNA methyltransferases 2060 2000-05-23 2016-06-21 2023-01-20 29947 ENSG00000142182 OTTHUMG00000086914 uc002zeh.2 AF194032 NM_013369 "CCDS13705|CCDS46650" Q9UJW3 10857753 MGI:1859287 RGD:1303239 606588 HGNC:2980 "ENST00000628202.3|NM_175867.3" HGNC:40189 DNMT3L-AS1 DNMT3L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Antisense RNAs 1987 2019-07-25 2019-07-25 105372833 ENSG00000232010 OTTHUMG00000086917 NR_135514 HGNC:40189 -HGNC:2981 DNPEP aspartyl aminopeptidase protein-coding gene gene with protein product Approved 2q35 02q35 "DAP|ASPEP" Aminopeptidases 104 1998-09-22 2023-01-20 23549 ENSG00000123992 OTTHUMG00000058919 uc002vle.3 NM_012100 "CCDS42823|CCDS82574|CCDS86923" Q9ULA0 9632644 MGI:1278328 RGD:1583848 611367 M18.002 objectId:1559 HGNC:2981 "ENST00000273075.9|NM_012100.4" +HGNC:2981 DNPEP aspartyl aminopeptidase protein-coding gene gene with protein product Approved 2q35 02q35 "DAP|ASPEP" Aminopeptidases 104 1998-09-22 2023-01-20 23549 ENSG00000123992 OTTHUMG00000058919 uc002vle.3 NM_012100 "CCDS86923|CCDS42823|CCDS82574" Q9ULA0 9632644 MGI:1278328 RGD:1583848 611367 M18.002 objectId:1559 HGNC:2981 "ENST00000273075.9|NM_012100.4" HGNC:55789 DNPEP-AS1 DNPEP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2021-07-28 2021-07-28 105373884 ENSG00000229525 NR_183822 HGNC:21218 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "rcl|dJ330M21.3" C6orf108 chromosome 6 open reading frame 108 2003-11-25 2012-11-28 2012-11-28 2023-01-20 10591 ENSG00000112667 OTTHUMG00000014724 uc003ouo.4 AF040105 NM_006443 "CCDS43465|CCDS4891" O43598 "9271375|17234634" MGI:3039376 RGD:620382 618762 HGNC:21218 "ENST00000230431.11|NM_006443.3" -HGNC:2983 DNTT DNA nucleotidylexotransferase protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "TDT|TdT" Terminal deoxynucleotidyltransferase deoxynucleotidyltransferase, terminal DNA polymerases 535 2001-06-22 2013-05-21 2023-01-20 1791 ENSG00000107447 OTTHUMG00000018832 uc001kmf.4 AB046378 NM_004088 "CCDS44465|CCDS7447" P04053 MGI:98659 RGD:1305054 187410 471210 2.7.7.31 HGNC:2983 "ENST00000371174.5|NM_004088.4" +HGNC:2983 DNTT DNA nucleotidylexotransferase protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "TDT|TdT" Terminal deoxynucleotidyltransferase deoxynucleotidyltransferase, terminal DNA polymerases 535 2001-06-22 2013-05-21 2023-01-20 1791 ENSG00000107447 OTTHUMG00000018832 uc001kmf.4 AB046378 NM_004088 "CCDS7447|CCDS44465" P04053 MGI:98659 RGD:1305054 187410 471210 2.7.7.31 HGNC:2983 "ENST00000371174.5|NM_004088.4" HGNC:16160 DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ447F3.4|Tdif1" "novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)|TdT binding protein" C20orf167 "chromosome 20 open reading frame 167|deoxynucleotidyltransferase, terminal, interacting protein 1" MiDAC complex subunits 2103 2001-07-17 2003-09-12 2016-07-20 2023-01-20 116092 ENSG00000101457 OTTHUMG00000032610 uc002xpk.3 AB035676 NM_052951 CCDS13369 Q9H147 11473582 MGI:1923483 RGD:621627 611388 HGNC:16160 "ENST00000372622.8|NM_052951.3" HGNC:24013 DNTTIP2 deoxynucleotidyltransferase terminal interacting protein 2 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "HSU15552|ERBP|TdIF2" acidic 82 kDa protein mRNA deoxynucleotidyltransferase, terminal, interacting protein 2 2005-11-28 2016-04-05 2023-01-20 30836 ENSG00000067334 OTTHUMG00000010268 uc001dqf.4 AY394925 NM_014597 CCDS44174 Q5QJE6 15047147 MGI:1923173 RGD:6497192 611199 HGNC:24013 "ENST00000436063.7|NM_014597.5" HGNC:2985 DOC2A double C2 domain alpha protein-coding gene gene with protein product Approved 16p11.2 16p11.2 double C2-like domains, alpha Synaptotagmin like tandem C2 proteins 822 1998-10-30 2016-03-17 2023-01-20 8448 ENSG00000149927 OTTHUMG00000132109 uc002dvp.5 D31897 NM_003586 CCDS10666 Q14183 "7826360|9736751" MGI:109446 RGD:620518 604567 HGNC:2985 "ENST00000350119.9|NM_003586.3" HGNC:2986 DOC2B double C2 domain beta protein-coding gene gene with protein product Approved 17p13.3 17p13.3 DOC2BL "double C2-like domains, beta-like|double C2-like domains, beta" Synaptotagmin like tandem C2 proteins 822 1998-10-30 2016-03-17 2023-01-20 8447 ENSG00000272636 OTTHUMG00000154415 uc010vpx.3 D70830 NM_003585 CCDS73934 Q14184 7826360 MGI:1100497 RGD:620519 604568 HGNC:2986 "ENST00000613549.3|NM_003585.5" HGNC:37962 DOC2GP double C2 domain gamma, pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 double C2-like domains, gamma, pseudogene Synaptotagmin like tandem C2 proteins 822 2010-03-12 2018-10-10 2020-08-14 390213 ENSG00000231793 OTTHUMG00000154229 XM_002343097.1 20210993 MGI:1926250 HGNC:37962 -HGNC:2987 DOCK1 dedicator of cytokinesis 1 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "DOCK180|ced5" DOwnstream of CrK dedicator of cyto-kinesis 1 "Armadillo like helical domain containing|DOCK family Rho GEFs" "1492|1536" 1998-05-13 2023-01-20 1793 ENSG00000150760 OTTHUMG00000019249 uc001ljt.4 D50857 NM_001380 "CCDS76359|CCDS73222" Q14185 "8657152|8661160" MGI:2429765 RGD:1566072 601403 HGNC:2987 "ENST00000623213.2|NM_001290223.2" +HGNC:2987 DOCK1 dedicator of cytokinesis 1 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "DOCK180|ced5" DOwnstream of CrK dedicator of cyto-kinesis 1 "Armadillo like helical domain containing|DOCK family Rho GEFs" "1492|1536" 1998-05-13 2023-01-20 1793 ENSG00000150760 OTTHUMG00000019249 uc001ljt.4 D50857 NM_001380 "CCDS73222|CCDS76359" Q14185 "8657152|8661160" MGI:2429765 RGD:1566072 601403 HGNC:2987 "ENST00000623213.2|NM_001290223.2" HGNC:2988 DOCK2 dedicator of cytokinesis 2 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 KIAA0209 dedicator of cyto-kinesis 2 "Armadillo like helical domain containing|DOCK family Rho GEFs|MicroRNA protein coding host genes" "1492|1536|1691" 1998-05-13 2023-01-20 1794 ENSG00000134516 OTTHUMG00000130437 uc003maf.3 BC016996 NM_004946 CCDS4371 Q92608 MGI:2149010 RGD:1564189 LRG_1227|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1227.xml 603122 457458 HGNC:2988 "ENST00000520908.7|NM_004946.3" HGNC:2988 HGNC:2989 DOCK3 dedicator of cytokinesis 3 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "KIAA0299|MOCA|PBP" dedicator of cyto-kinesis 3 "Armadillo like helical domain containing|DOCK family Rho GEFs|MicroRNA protein coding host genes" "1492|1536|1691" 1998-05-13 2023-01-20 1795 ENSG00000088538 OTTHUMG00000156892 uc011bds.2 AB002297 NM_004947 CCDS46835 Q8IZD9 9205841 MGI:2429763 RGD:1306677 603123 HGNC:2989 "ENST00000266037.10|NM_004947.5" HGNC:2989 HGNC:19192 DOCK4 dedicator of cytokinesis 4 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "FLJ34238|KIAA0716" DOCK family Rho GEFs 1536 2003-11-19 2023-01-20 9732 ENSG00000128512 OTTHUMG00000155077 uc003vfx.4 NM_014705 "CCDS47688|CCDS87541" Q8N1I0 "12432077|12628187" MGI:1918006 RGD:1561724 607679 HGNC:19192 "ENST00000428084.6|NM_001363540.2" HGNC:40876 DOCK4-AS1 DOCK4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.1 07q31.1 Antisense RNAs 1987 2013-07-23 2014-11-19 100506413 ENSG00000225572 OTTHUMG00000155078 NR_103806 DOCK4-AS1 HGNC:40876 HGNC:23476 DOCK5 dedicator of cytokinesis 5 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 FLJ21034 "DOCK family Rho GEFs|MicroRNA protein coding host genes" "1536|1691" 2003-11-19 2023-01-20 80005 ENSG00000147459 OTTHUMG00000131991 uc003xeg.4 NM_024940 "CCDS6047|CCDS83265" Q9H7D0 12432077 MGI:2652871 RGD:1306872 616904 HGNC:23476 "ENST00000276440.12|NM_024940.8" HGNC:19189 DOCK6 dedicator of cytokinesis 6 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "KIAA1395|ZIR1" DOCK family Rho GEFs 1536 2003-11-19 2023-01-20 57572 ENSG00000130158 OTTHUMG00000180826 uc002mqs.6 NM_020812 "CCDS45975|CCDS92518" Q96HP0 12432077 MGI:1914789 RGD:1306517 614194 279606 HGNC:19189 "ENST00000294618.12|NM_020812.4" HGNC:19189 -HGNC:56684 DOCK6-AS1 DOCK6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 AC011472.4 Antisense RNAs 1987 2023-01-06 2023-02-22 128266839 ENSG00000273733 36541918 -HGNC:19190 DOCK7 dedicator of cytokinesis 7 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA1771|ZIR2" DOCK family Rho GEFs 1536 2003-11-19 2023-01-20 85440 ENSG00000116641 OTTHUMG00000013131 uc001dap.6 NM_033407 "CCDS30734|CCDS90964|CCDS81336|CCDS60157|CCDS81335|CCDS81338|CCDS60156" Q96N67 12432077 MGI:1914549 RGD:1309790 615730 415155 HGNC:19190 "ENST00000635253.2|NM_001367561.1" HGNC:19190 -HGNC:55670 DOCK7-DT DOCK7 divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Divergent transcripts 1990 2021-06-30 2021-06-30 121832810 ENSG00000235545 -HGNC:19191 DOCK8 dedicator of cytokinesis 8 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "FLJ00026|FLJ00152|ZIR8|FLJ00346" "Armadillo like helical domain containing|DOCK family Rho GEFs" "1492|1536" 2003-12-02 2023-01-20 81704 ENSG00000107099 OTTHUMG00000078789 uc003zgf.2 AK090429 NM_203447 "CCDS55284|CCDS6440|CCDS55283" Q8NF50 11214971 MGI:1921396 RGD:1561588 LRG_196|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_196.xml 611432 220922 HGNC:19191 "ENST00000432829.7|NM_203447.4" HGNC:19191 +HGNC:56684 DOCK6-AS1 DOCK6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 AC011472.4 Antisense RNAs 1987 2023-01-06 2023-06-16 105372273 ENSG00000267082 NR_186345 36541918 +HGNC:19190 DOCK7 dedicator of cytokinesis 7 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA1771|ZIR2" DOCK family Rho GEFs 1536 2003-11-19 2023-01-20 85440 ENSG00000116641 OTTHUMG00000013131 uc001dap.6 NM_033407 "CCDS90964|CCDS81336|CCDS60157|CCDS60156|CCDS81338|CCDS81335|CCDS30734" Q96N67 12432077 MGI:1914549 RGD:1309790 615730 415155 HGNC:19190 "ENST00000635253.2|NM_001367561.1" HGNC:19190 +HGNC:55670 DOCK7-DT DOCK7 divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Divergent transcripts 1990 2021-06-30 2021-06-30 121832810 ENSG00000235545 NR_185999 +HGNC:19191 DOCK8 dedicator of cytokinesis 8 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "FLJ00026|FLJ00152|ZIR8|FLJ00346" "Armadillo like helical domain containing|DOCK family Rho GEFs" "1492|1536" 2003-12-02 2023-01-20 81704 ENSG00000107099 OTTHUMG00000078789 uc003zgf.2 AK090429 NM_203447 "CCDS6440|CCDS55283|CCDS55284" Q8NF50 11214971 MGI:1921396 RGD:1561588 LRG_196|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_196.xml 611432 220922 HGNC:19191 "ENST00000432829.7|NM_203447.4" HGNC:19191 HGNC:26436 DOCK8-AS1 DOCK8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 FLJ31158 C9orf66 chromosome 9 open reading frame 66 Antisense RNAs 1987 2004-01-06 2019-04-04 2019-04-04 2023-03-15 157983 ENSG00000183784 OTTHUMG00000021017 uc003zge.5 AK055720 NR_160804 Q5T8R8 RGD:9462182 HGNC:26436 HGNC:55822 DOCK8-AS2 DOCK8 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 Antisense RNAs 1987 2021-07-30 2021-07-30 112268042 ENSG00000227155 XR_002956871 -HGNC:14132 DOCK9 dedicator of cytokinesis 9 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 "KIAA1058|ZIZ1" zizimin1 "Pleckstrin homology domain containing|Armadillo like helical domain containing|DOCK family Rho GEFs" "682|1492|1536" 2003-11-19 2023-01-20 23348 ENSG00000088387 OTTHUMG00000017260 uc058xyj.1 AF527605 NM_015296 "CCDS91827|CCDS45062|CCDS45063|CCDS91828|CCDS91829|CCDS76645" Q9BZ29 "12172552|12432077" MGI:106321 RGD:629617 607325 HGNC:14132 "ENST00000682017.1|NM_001366683.2" HGNC:14132 +HGNC:14132 DOCK9 dedicator of cytokinesis 9 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 "KIAA1058|ZIZ1" zizimin1 "Pleckstrin homology domain containing|Armadillo like helical domain containing|DOCK family Rho GEFs" "682|1492|1536" 2003-11-19 2023-01-20 23348 ENSG00000088387 OTTHUMG00000017260 uc058xyj.1 AF527605 NM_015296 "CCDS45063|CCDS91829|CCDS91827|CCDS76645|CCDS45062|CCDS91828" Q9BZ29 "12172552|12432077" MGI:106321 RGD:629617 607325 HGNC:14132 "ENST00000682017.1|NM_001366683.2" HGNC:14132 HGNC:40672 DOCK9-AS1 DOCK9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 DOCK9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2014-11-19 100874096 ENSG00000229918 OTTHUMG00000017256 uc032amx.1 AI027206 NR_046663 DOCK9-AS1 HGNC:40672 HGNC:43696 DOCK9-DT DOCK9 divergent transcript non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 DOCK9-AS2 "DOCK9 antisense RNA 2 (non-protein coding)|DOCK9 antisense RNA 2|DOCK9 antisense RNA 2 (head to head)" Divergent transcripts 1990 2012-01-31 2018-03-22 2018-03-22 2018-03-22 100861541 ENSG00000260992 OTTHUMG00000176064 uc058xyw.1 AF339771 NR_047482 DOCK9-AS2 HGNC:43696 -HGNC:23479 DOCK10 dedicator of cytokinesis 10 protein-coding gene gene with protein product Approved 2q36.2 02q36.2 "ZIZ3|KIAA0694" zizimin3 "Pleckstrin homology domain containing|Armadillo like helical domain containing|DOCK family Rho GEFs|MicroRNA protein coding host genes" "682|1492|1536|1691" 2003-11-19 2023-01-20 55619 ENSG00000135905 OTTHUMG00000153428 uc010fwz.2 AB014594 NM_001290263 "CCDS86925|CCDS74661|CCDS46528" Q96BY6 12432077 MGI:2146320 RGD:1561963 611518 HGNC:23479 "ENST00000258390.12|NM_014689.3" +HGNC:23479 DOCK10 dedicator of cytokinesis 10 protein-coding gene gene with protein product Approved 2q36.2 02q36.2 "ZIZ3|KIAA0694" zizimin3 "Pleckstrin homology domain containing|Armadillo like helical domain containing|DOCK family Rho GEFs|MicroRNA protein coding host genes" "682|1492|1536|1691" 2003-11-19 2023-01-20 55619 ENSG00000135905 OTTHUMG00000153428 uc010fwz.2 AB014594 NM_001290263 "CCDS74661|CCDS46528|CCDS86925" Q96BY6 12432077 MGI:2146320 RGD:1561963 611518 HGNC:23479 "ENST00000258390.12|NM_014689.3" HGNC:23483 DOCK11 dedicator of cytokinesis 11 protein-coding gene gene with protein product Approved Xq24 Xq24 "FLJ32122|FLJ43653|ZIZ2|ACG" zizimin2 "Pleckstrin homology domain containing|Armadillo like helical domain containing|DOCK family Rho GEFs" "682|1492|1536" 2003-11-19 2023-04-24 139818 ENSG00000147251 OTTHUMG00000022256 uc065avl.1 AK125641 NM_144658 CCDS35373 Q5JSL3 "12432077|16968698|36952639" MGI:1923224 RGD:1564707 300681 HGNC:23483 "ENST00000276202.9|NM_144658.4" HGNC:31719 DOCK11P1 dedicator of cytokinesis 11 pseudogene 1 pseudogene pseudogene Approved 14q21.2 14q21.2 2004-06-17 2020-04-20 100132537 ENSG00000259000 OTTHUMG00000170718 NG_028868 PGOHUM00000247788 HGNC:31719 HGNC:28662 DOHH deoxyhypusine hydroxylase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC4293 HLRC1 "HEAT-like (PBS lyase) repeat containing 1|deoxyhypusine hydroxylase/monooxygenase" Armadillo like helical domain containing 1492 2005-07-04 2006-05-22 2017-01-20 2023-01-20 83475 ENSG00000129932 OTTHUMG00000180762 uc010xhl.3 BC002817 NM_031304 CCDS12108 Q9BU89 "16371467|16533814" MGI:1915964 RGD:1304783 611262 HGNC:28662 "ENST00000427575.6|NM_001145165.2" HGNC:2990 DOK1 docking protein 1 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 p62dok downstream of tyrosine kinase 1 "docking protein 1, 62kD (downstream of tyrosine kinase 1)|docking protein 1, 62kDa (downstream of tyrosine kinase 1)" 1997-07-25 2015-11-10 2023-01-20 1796 ENSG00000115325 OTTHUMG00000129956 uc002sms.4 U70987 NM_001381 "CCDS82474|CCDS1954|CCDS56125" Q99704 "9008160|9790776|15546884" MGI:893587 RGD:1309499 602919 HGNC:2990 "ENST00000233668.10|NM_001381.5" HGNC:2991 DOK2 docking protein 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "p56dok-2|Dok-2" downstream of tyrosine kinase 2 "docking protein 2, 56kD|docking protein 2, 56kDa" 1999-02-05 2015-11-09 2023-03-15 9046 ENSG00000147443 OTTHUMG00000131075 uc003wzy.2 AF034970 NM_003974 CCDS6016 O60496 "9478921|14645010" MGI:1332623 RGD:1310966 604997 HGNC:2991 "ENST00000276420.9|NM_003974.4" -HGNC:24583 DOK3 docking protein 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 FLJ22570 2004-07-06 2023-01-20 79930 ENSG00000146094 OTTHUMG00000130850 uc003mhk.3 AK026223 NM_024872 "CCDS47350|CCDS78098|CCDS47349" Q7L591 "10733577|12595900" MGI:1351490 RGD:1311840 611435 HGNC:24583 "ENST00000510898.7|NM_001308236.3" +HGNC:24583 DOK3 docking protein 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 FLJ22570 2004-07-06 2023-01-20 79930 ENSG00000146094 OTTHUMG00000130850 uc003mhk.3 AK026223 NM_024872 "CCDS78098|CCDS47350|CCDS47349" Q7L591 "10733577|12595900" MGI:1351490 RGD:1311840 611435 HGNC:24583 "ENST00000510898.7|NM_001308236.3" HGNC:19868 DOK4 docking protein 4 protein-coding gene gene with protein product Approved 16q21 16q21 FLJ10488 Pleckstrin homology domain containing 682 2002-11-28 2023-01-20 55715 ENSG00000125170 OTTHUMG00000133460 uc002elv.5 BC003541 NM_001330556 "CCDS81986|CCDS10783" Q8TEW6 10493829 MGI:2148865 RGD:1310084 608333 HGNC:19868 "ENST00000340099.10|NM_018110.5" HGNC:16173 DOK5 docking protein 5 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 dJ805C22.1 C20orf180 chromosome 20 open reading frame 180 Pleckstrin homology domain containing 682 2001-07-17 2002-11-29 2002-11-28 2023-01-20 55816 ENSG00000101134 OTTHUMG00000032778 uc002xwy.4 AF132732 NM_001294161 "CCDS13447|CCDS13446" Q9P104 11470823 MGI:1924079 RGD:1562846 608334 HGNC:16173 "ENST00000262593.10|NM_018431.5" HGNC:28301 DOK6 docking protein 6 protein-coding gene gene with protein product Approved 18q22.2 18q22.2 "MGC20785|HsT3226" DOK5L docking protein 5-like Pleckstrin homology domain containing 682 2004-05-05 2005-01-18 2005-01-18 2023-01-20 220164 ENSG00000206052 OTTHUMG00000178688 uc002lkl.4 AK057795 NM_152721 CCDS32841 Q6PKX4 15286081 MGI:3639495 RGD:1564376 611402 HGNC:28301 "ENST00000382713.10|NM_152721.6" -HGNC:26594 DOK7 docking protein 7 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ33718|FLJ39137|Dok-7" C4orf25 chromosome 4 open reading frame 25 2006-05-22 2006-08-24 2006-08-24 2023-01-20 285489 ENSG00000175920 OTTHUMG00000122087 uc003ghd.4 AK091037 NM_173660 "CCDS87205|CCDS54717|CCDS3370|CCDS87206" Q18PE1 16794080 MGI:3584043 RGD:1566416 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DOK7|LRG_869|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_869.xml" 610285 121152 HGNC:26594 "ENST00000340083.6|NM_173660.5" HGNC:26594 +HGNC:26594 DOK7 docking protein 7 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ33718|FLJ39137|Dok-7" C4orf25 chromosome 4 open reading frame 25 2006-05-22 2006-08-24 2006-08-24 2023-01-20 285489 ENSG00000175920 OTTHUMG00000122087 uc003ghd.4 AK091037 NM_173660 "CCDS87206|CCDS3370|CCDS54717|CCDS87205" Q18PE1 16794080 MGI:3584043 RGD:1566416 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DOK7|LRG_869|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_869.xml" 610285 121152 HGNC:26594 "ENST00000340083.6|NM_173660.5" HGNC:26594 HGNC:23406 DOLK dolichol kinase protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KIAA1094|DK1" dolichol kinase 1 TMEM15 transmembrane protein 15 2003-11-17 2007-02-09 2007-02-09 2023-01-20 22845 ENSG00000175283 OTTHUMG00000020765 uc004bwr.4 AB029017 NM_014908 CCDS6915 Q9UPQ8 "12975309|16923818" MGI:2677836 RGD:1310821 LRG_744|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_744.xml 610746 123375 HGNC:23406 "ENST00000372586.4|NM_014908.4" HGNC:23406 -HGNC:29565 DOLPP1 dolichyldiphosphatase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 LSFR2 linked to Surfeit genes in Fugu rubripes 2 dolichyl pyrophosphate phosphatase 1 Lipid phosphatases 1066 2004-02-13 2013-05-21 2023-01-20 57171 ENSG00000167130 OTTHUMG00000020771 uc004bxc.4 BC009493 NM_020438 "CCDS48039|CCDS6918" Q86YN1 "10369878|12198133" MGI:1914093 RGD:1307447 614516 3.6.1.43 HGNC:29565 "ENST00000372546.9|NM_020438.5" +HGNC:29565 DOLPP1 dolichyldiphosphatase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 LSFR2 linked to Surfeit genes in Fugu rubripes 2 dolichyl pyrophosphate phosphatase 1 Lipid phosphatases 1066 2004-02-13 2013-05-21 2023-01-20 57171 ENSG00000167130 OTTHUMG00000020771 uc004bxc.4 BC009493 NM_020438 "CCDS6918|CCDS48039" Q86YN1 "10369878|12198133" MGI:1914093 RGD:1307447 614516 3.6.1.43 HGNC:29565 "ENST00000372546.9|NM_020438.5" HGNC:2993 DONSON DNA replication fork stabilization factor DONSON protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B17|C2TA|DKFZP434M035" C21orf60 downstream neighbor of SON 2000-02-18 2020-01-30 2023-01-20 29980 ENSG00000159147 OTTHUMG00000065904 uc002ysk.5 AF000002 NM_017613 CCDS13632 Q9NYP3 "10773462|10950926|28191891" MGI:1890621 RGD:1306823 611428 HGNC:2993 "ENST00000303071.10|NM_017613.4" HGNC:2993 HGNC:56539 DONSONP1 DONSON pseudogene 1 pseudogene pseudogene Approved 3q22.3 03q22.3 2022-10-31 2022-10-31 100420050 ENSG00000227267 NG_025746 PGOHUM00000299604 HGNC:21194 DOP1A DOP1 leucine zipper like protein A protein-coding gene gene with protein product Approved 6q14.1 06q14.1 dJ202D23.2 "KIAA1117|DOPEY1" "KIAA1117|dopey family member 1" 2003-11-17 2018-06-13 2018-06-13 2023-01-20 23033 ENSG00000083097 OTTHUMG00000016365 uc003pjs.2 AK027030 NM_015018 "CCDS4996|CCDS64467" Q5JWR5 "16301316|16303751|10931277" MGI:1289294 RGD:1305534 616823 HGNC:21194 "ENST00000349129.7|NM_015018.4" HGNC:1291 DOP1B DOP1 leucine zipper like protein B protein-coding gene gene with protein product Approved 21q22.12 21q22.12 KIAA0933 "C21orf5|DOPEY2" "chromosome 21 open reading frame 5|dopey family member 2" 1999-04-28 2018-06-13 2018-06-13 2023-01-20 9980 ENSG00000142197 OTTHUMG00000086619 uc002yvg.4 AJ237839 NM_005128 CCDS13643 Q9Y3R5 "16301316|16303751|10931277" MGI:1917278 RGD:1306097 604803 HGNC:1291 "ENST00000691173.1|NM_001320714.2" -HGNC:24948 DOT1L DOT1 like histone lysine methyltransferase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA1814|DOT1|KMT4" histone methyltransferase DOT1L DOT1-like, histone H3 methyltransferase (S. cerevisiae) "Lysine methyltransferases|7BS protein lysine methyltransferases" "487|2056" 2004-03-08 2016-05-04 2023-01-20 84444 ENSG00000104885 OTTHUMG00000150431 uc002lvb.4 AF509504 NM_032482 "CCDS42460|CCDS92483" Q8TEK3 "11347906|12123582" MGI:2143886 RGD:1306644 607375 470238 objectId:2650 2.1.1.43 HGNC:24948 "ENST00000398665.8|NM_032482.3" +HGNC:24948 DOT1L DOT1 like histone lysine methyltransferase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA1814|DOT1|KMT4" histone methyltransferase DOT1L DOT1-like, histone H3 methyltransferase (S. cerevisiae) "Lysine methyltransferases|7BS protein lysine methyltransferases" "487|2056" 2004-03-08 2016-05-04 2023-01-20 84444 ENSG00000104885 OTTHUMG00000150431 uc002lvb.4 AF509504 NM_032482 "CCDS92483|CCDS42460" Q8TEK3 "11347906|12123582" MGI:2143886 RGD:1306644 607375 470238 objectId:2650 2.1.1.43 HGNC:24948 "ENST00000398665.8|NM_032482.3" HGNC:2995 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "GPT|D11S366|DGPT|ALG7|CDG-Ij" "GlcNAc-1-P transferase 1|UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1" "DPAGT2|DPAGT" dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 1993-12-13 2016-01-19 2023-03-15 1798 ENSG00000172269 OTTHUMG00000153533 uc031yhj.1 Z82022 NM_001382 CCDS8411 Q9H3H5 8244387 MGI:1196396 RGD:735124 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 191350 121158 2.7.8.15 HGNC:2995 "ENST00000354202.9|NM_001382.4" HGNC:2995 HGNC:24542 DPCD deleted in primary ciliary dyskinesia homolog (mouse) protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "DKFZP566F084|RP11-529I10.4" MicroRNA protein coding host genes 1691 2009-08-25 2023-01-20 25911 ENSG00000166171 OTTHUMG00000018934 uc001ktn.4 NM_001329742 "CCDS7514|CCDS86141" Q9BVM2 14630615 MGI:1924407 RGD:1307648 616467 HGNC:24542 "ENST00000370151.9|NM_015448.3" HGNC:3002 DPEP1 dipeptidase 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 dipeptidase 1 (renal) M19 metallopeptidases 1445 1991-08-08 2017-08-04 2023-01-20 1800 ENSG00000015413 OTTHUMG00000138052 uc010cin.4 NM_001128141 CCDS10982 P16444 MGI:94917 RGD:620324 179780 M19.001 objectId:1393 3.4.13.19 HGNC:3002 "ENST00000690203.1|NM_001389466.1" HGNC:23028 DPEP2 dipeptidase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 M19 metallopeptidases 1445 2003-09-12 2023-01-20 64174 ENSG00000167261 OTTHUMG00000137542 uc002eve.5 AJ295149 NM_022355 CCDS10857 Q9H4A9 MGI:2442042 RGD:1305746 609925 M19.004 objectId:1394 3.4.13.19 HGNC:23028 "ENST00000393847.6|NM_022355.4" HGNC:52385 DPEP2NB DPEP2 neighbor protein-coding gene gene with protein product Approved 16q22.1 16q22.1 2017-11-27 2023-01-20 100131303 ENSG00000263201 OTTHUMG00000177460 NM_001282442 CCDS82001 A0A0U1RQF7 HGNC:52385 "ENST00000574912.1|NM_001282442.2" HGNC:23029 DPEP3 dipeptidase 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 M19 metallopeptidases 1445 2003-09-12 2023-01-20 64180 ENSG00000141096 OTTHUMG00000137544 uc002evc.5 AJ291679 NM_022357 CCDS10856 Q9H4B8 MGI:1919104 RGD:1305484 609926 M19.011 3.4.13.19 HGNC:23029 "ENST00000268793.6|NM_001370198.1" -HGNC:20225 DPF1 double PHD fingers 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "neuro-d4|NEUD4|BAF45b|SMARCG1" D4, zinc and double PHD fingers family 1 "PHD finger proteins|BAF complex" "88|1604" 2003-01-28 2016-02-10 2023-01-20 8193 ENSG00000011332 OTTHUMG00000157164 uc060xyx.1 U43843 NM_001135155 "CCDS46065|CCDS86760|CCDS33008|CCDS92608|CCDS46064" Q92782 8812431 MGI:1352748 RGD:61868 601670 HGNC:20225 "ENST00000355526.10|NM_001135155.3" +HGNC:20225 DPF1 double PHD fingers 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "neuro-d4|NEUD4|BAF45b|SMARCG1" D4, zinc and double PHD fingers family 1 "PHD finger proteins|BAF complex" "88|1604" 2003-01-28 2016-02-10 2023-01-20 8193 ENSG00000011332 OTTHUMG00000157164 uc060xyx.1 U43843 NM_001135155 "CCDS92608|CCDS46065|CCDS33008|CCDS46064|CCDS86760" Q92782 8812431 MGI:1352748 RGD:61868 601670 HGNC:20225 "ENST00000355526.10|NM_001135155.3" HGNC:9964 DPF2 double PHD fingers 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ubi-d4|BAF45d|SMARCG2" REQ "requiem, apoptosis response zinc finger gene|D4, zinc and double PHD fingers family 2" "PHD finger proteins|BAF complex" "88|1604" 1997-05-15 2003-10-08 2016-02-10 2023-01-20 5977 ENSG00000133884 OTTHUMG00000165985 uc001odm.4 U94585 NM_006268 "CCDS8100|CCDS81583" Q92785 11845289 MGI:109529 RGD:1311699 601671 HGNC:9964 "ENST00000528416.6|NM_006268.5" HGNC:9964 -HGNC:17427 DPF3 double PHD fingers 3 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "cer-d4|Cerd4|FLJ14079|BAF45c|SMARCG3" D4, zinc and double PHD fingers, family 3 "PHD finger proteins|BAF complex" "88|1604" 2003-01-28 2016-02-10 2023-01-20 8110 ENSG00000205683 OTTHUMG00000171364 uc001xnc.4 U43919 NM_001280542 "CCDS61497|CCDS61496|CCDS45133|CCDS61495" Q92784 "11845289|8812431" MGI:1917377 RGD:1309052 601672 HGNC:17427 "ENST00000556509.6|NM_001280542.3" +HGNC:17427 DPF3 double PHD fingers 3 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "cer-d4|Cerd4|FLJ14079|BAF45c|SMARCG3" D4, zinc and double PHD fingers, family 3 "PHD finger proteins|BAF complex" "88|1604" 2003-01-28 2016-02-10 2023-01-20 8110 ENSG00000205683 OTTHUMG00000171364 uc001xnc.4 U43919 NM_001280542 "CCDS61495|CCDS61497|CCDS61496|CCDS45133" Q92784 "11845289|8812431" MGI:1917377 RGD:1309052 601672 HGNC:17427 "ENST00000556509.6|NM_001280542.3" HGNC:3003 DPH1 diphthamide biosynthesis 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OVCA1 ovarian tumor suppressor candidate 1 "DPH2L|DPH2L1" "diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)|DPH-like 1 (S. cerevisiae)|DPH1 homolog (S. cerevisiae)" "Minor histocompatibility antigens|Diphthamide biosynthesis pathway genes" "870|1808" 1995-08-25 2005-06-03 2013-05-02 2023-01-20 1801 ENSG00000108963 OTTHUMG00000177724 uc002fts.4 S81752 NM_001383 CCDS42228 Q9BZG8 "8603384|15485916|22869748" MGI:2151233 RGD:1562694 603527 460847 HGNC:3003 "ENST00000263083.12|NM_001383.6" HGNC:3003 HGNC:56040 DPH1-AS1 DPH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 RP11-667K14.3 Antisense RNAs 1987 2021-12-08 2021-12-08 123706529 ENSG00000263050 -HGNC:3004 DPH2 diphthamide biosynthesis 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 DPH2L2 "diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)|DPH2-like 2 (S. cerevisiae)|DPH2 homolog (S. cerevisiae)|DPH2 homolog" Diphthamide biosynthesis pathway genes 1808 1998-03-24 2005-06-03 2019-02-14 2023-01-20 1802 ENSG00000132768 OTTHUMG00000008295 uc001ckz.4 AF053003 NM_001384 "CCDS504|CCDS41314" Q9BQC3 "9782084|15485916" MGI:1914978 RGD:1304634 603456 HGNC:3004 "ENST00000255108.8|NM_001384.5" +HGNC:3004 DPH2 diphthamide biosynthesis 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 DPH2L2 "diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)|DPH2-like 2 (S. cerevisiae)|DPH2 homolog (S. cerevisiae)|DPH2 homolog" Diphthamide biosynthesis pathway genes 1808 1998-03-24 2005-06-03 2019-02-14 2023-01-20 1802 ENSG00000132768 OTTHUMG00000008295 uc001ckz.4 AF053003 NM_001384 "CCDS41314|CCDS504" Q9BQC3 "9782084|15485916" MGI:1914978 RGD:1304634 603456 HGNC:3004 "ENST00000255108.8|NM_001384.5" HGNC:27717 DPH3 diphthamide biosynthesis 3 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "DESR1|DELGIP1|MGC20197|KTI11|DELGIP|DPH3A" DPH3A, KTI11 homolog A (S. cerevisiae) ZCSL2 "zinc finger, CSL-type containing 2|DPH3 homolog (KTI11, S. cerevisiae)|DPH3, KTI11 homolog (S. cerevisiae)" Diphthamide biosynthesis pathway genes 1808 2004-07-14 2006-10-25 2013-06-19 2023-01-20 285381 ENSG00000154813 OTTHUMG00000129866 uc003cau.4 BC010181 NM_206831 "CCDS43058|CCDS2629" Q96FX2 "14527407|14980502|15485916|16648478" MGI:1922658 RGD:1590566 608959 HGNC:27717 "ENST00000488423.2|NM_206831.3" HGNC:16136 DPH3P1 diphthamide biosynthesis 3 pseudogene 1 pseudogene pseudogene Approved 20q13.33 20q13.33 dJ885L7.5 "C20orf143|ZCSL1|DPH3B" "chromosome 20 open reading frame 143|zinc finger, CSL-type containing 1|DPH3B, KTI11 homolog B (S. cerevisiae)|DPH3, KTI11 homolog (S. cerevisiae) pseudogene 1" 2001-07-17 2010-07-28 2013-06-19 2021-03-05 100132911 ENSG00000233838 OTTHUMG00000032941 NG_070886 Q9H4G8 MGI:1922658 HGNC:16136 HGNC:38719 DPH3P2 diphthamide biosynthesis 3 pseudogene 2 pseudogene pseudogene Approved Xq28 and Yq12 Xq28 and Yq12 DPH3, KTI11 homolog (S. cerevisiae) pseudogene 2 Pseudoautosomal region 2 716 2010-07-28 2013-06-19 2016-10-05 106478926 ENSG00000237040 OTTHUMG00000022680 NG_044993 PGOHUM00000305409 HGNC:38719 -HGNC:24270 DPH5 diphthamide biosynthesis 5 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 CGI-30 DPH5 homolog (S. cerevisiae) Diphthamide biosynthesis pathway genes 1808 2005-07-29 2013-05-02 2023-01-20 51611 ENSG00000117543 OTTHUMG00000010829 uc001dts.4 AF132964 NM_015958 "CCDS41359|CCDS41358" Q9H2P9 "15485916|23486472" MGI:1916990 RGD:1307867 611075 HGNC:24270 "ENST00000370109.8|NM_015958.3" +HGNC:24270 DPH5 diphthamide biosynthesis 5 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 CGI-30 DPH5 homolog (S. cerevisiae) Diphthamide biosynthesis pathway genes 1808 2005-07-29 2013-05-02 2023-01-20 51611 ENSG00000117543 OTTHUMG00000010829 uc001dts.4 AF132964 NM_015958 "CCDS41358|CCDS41359" Q9H2P9 "15485916|23486472" MGI:1916990 RGD:1307867 611075 HGNC:24270 "ENST00000370109.8|NM_015958.3" HGNC:53720 DPH5-DT DPH5 divergent transcript non-coding RNA RNA, long non-coding Approved 1p21.2 01p21.2 Divergent transcripts 1990 2022-01-05 2022-01-05 102606465 ENSG00000233184 OTTHUMG00000010831 NR_109849 28854954 HGNC:30543 DPH6 diphthamine biosynthesis 6 protein-coding gene gene with protein product Approved 15q14 15q14 MGC14798 diphthine--ammonia ligase ATPBD4 "ATP binding domain 4|DPH6 homolog (S. cerevisiae)" "MicroRNA protein coding host genes|Diphthamide biosynthesis pathway genes" "1691|1808" 2005-10-24 2013-05-02 2013-06-19 2023-01-20 89978 ENSG00000134146 OTTHUMG00000129759 NM_080650 "CCDS45213|CCDS10043" Q7L8W6 "23169644|23468660" MGI:1913882 RGD:1310006 618391 6.3.1.14 HGNC:30543 "ENST00000256538.9|NM_080650.4" HGNC:44147 DPH6-DT DPH6 divergent transcript non-coding RNA RNA, long non-coding Approved 15q14 15q14 "ATPBD4-AS1|DPH6-AS1" "ATPBD4 antisense RNA 1 (non-protein coding)|ATPBD4 antisense RNA 1|ATPBD4 antisense RNA 1 (head to head)|DPH6 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-06-30 2018-03-22 2018-03-22 2018-03-22 100507466 ENSG00000248079 OTTHUMG00000172347 BC025664 NR_038251 DPH6-AS1 HGNC:44147 HGNC:25199 DPH7 diphthamide biosynthesis 7 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "FLJ90634|RRT2" "C9orf112|WDR85" "chromosome 9 open reading frame 112|WD repeat domain 85" "WD repeat domain containing|Diphthamide biosynthesis pathway genes" "362|1808" 2004-03-25 2013-06-20 2013-06-20 2023-01-20 92715 ENSG00000148399 OTTHUMG00000020991 AK075115 NM_138778 CCDS7047 Q9BTV6 23486472 MGI:1914478 RGD:1304868 613210 HGNC:25199 "ENST00000277540.7|NM_138778.5" HGNC:3005 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "MPDS|CDGIE" DPM synthase complex, catalytic subunit dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit "Glycosyltransferase family 2|Dolichyl-phosphate mannosyltransferase subunits" "428|1893" 1999-02-23 2016-07-20 2023-01-20 8813 ENSG00000000419 OTTHUMG00000032742 uc002xvw.2 AF007875 NM_003859 "CCDS13434|CCDS93059|CCDS82628" O60762 "9223280|9535917" MGI:1330239 RGD:1310120 Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/ 603503 121167 2.4.1.83 HGNC:3005 "ENST00000371588.10|NM_003859.3" HGNC:3005 HGNC:3006 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "MGC21559|MGC111193" DPM synthase complex subunit dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit "Dolichyl-phosphate mannosyltransferase subunits|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex" "1893|2223" 1999-02-23 2016-07-20 2023-03-15 8818 ENSG00000136908 OTTHUMG00000020725 uc004bsv.3 AB013361 NM_003863 CCDS6886 O94777 9724629 MGI:1330238 RGD:2514 603564 331676 HGNC:3006 "ENST00000314392.13|NM_003863.4" HGNC:3006 -HGNC:3007 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory protein-coding gene gene with protein product Approved 1q22 01q22 "MGC34275|MGC125904|MGC125905" DPM synthase complex subunit dolichyl-phosphate mannosyltransferase polypeptide 3 Dolichyl-phosphate mannosyltransferase subunits 1893 2000-06-29 2019-05-08 2023-01-20 54344 ENSG00000179085 OTTHUMG00000035335 uc057lmb.1 AB028128 NM_153741 "CCDS1095|CCDS1094" Q9P2X0 "10835346|16280320" MGI:1915813 RGD:1561807 Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DPM3 605951 269756 HGNC:3007 "ENST00000368400.5|NM_153741.2" HGNC:3007 +HGNC:3007 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory protein-coding gene gene with protein product Approved 1q22 01q22 "MGC34275|MGC125904|MGC125905" DPM synthase complex subunit dolichyl-phosphate mannosyltransferase polypeptide 3 Dolichyl-phosphate mannosyltransferase subunits 1893 2000-06-29 2019-05-08 2023-01-20 54344 ENSG00000179085 OTTHUMG00000035335 uc057lmb.1 AB028128 NM_153741 "CCDS1094|CCDS1095" Q9P2X0 "10835346|16280320" MGI:1915813 RGD:1561807 Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DPM3 605951 269756 HGNC:3007 "ENST00000368400.5|NM_153741.2" HGNC:3007 HGNC:3008 DPP3 dipeptidyl peptidase 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 enkephalinase B "dipeptidylpeptidase III|dipeptidylpeptidase 3|dipeptidyl-peptidase 3" M49 metallopeptidase family 2106 1999-05-25 2016-02-05 2023-01-20 10072 ENSG00000254986 OTTHUMG00000167143 uc058dxl.1 AB017970 NM_001256670 "CCDS58147|CCDS8141" Q9NY33 "10773679|34314529" MGI:1922471 RGD:621127 606818 M49.001 objectId:2355 3.4.14.4 HGNC:3008 "ENST00000531863.6|NM_130443.4" HGNC:55494 DPP3-DT DPP3 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Divergent transcripts 1990 2021-03-15 2021-03-15 101928069 ENSG00000255517 NR_120586 HGNC:51349 DPP3P1 DPP3 pseudogene 1 pseudogene pseudogene Approved 4q13.1 04q13.1 dipeptidyl-peptidase 3 pseudogene 1 2014-10-13 2020-02-10 2020-02-10 391657 ENSG00000250768 OTTHUMG00000160714 NG_022059 PGOHUM00000300226 HGNC:51349 HGNC:51350 DPP3P2 DPP3 pseudogene 2 pseudogene pseudogene Approved 9q21.13 09q21.13 dipeptidyl-peptidase 3 pseudogene 2 2014-10-13 2020-02-10 2020-02-10 138971 ENSG00000221844 OTTHUMG00000020020 NG_021624 HGNC:51350 HGNC:3009 DPP4 dipeptidyl peptidase 4 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 DPPIV "CD26|ADCP2" "dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)|adenosine deaminase complexing protein 2|dipeptidyl-peptidase 4" "CD molecules|DASH family" "471|1205" 1990-03-05 2016-02-05 2023-01-20 1803 ENSG00000197635 OTTHUMG00000132056 uc002ubz.4 M74777 NM_001379604 "CCDS92882|CCDS2216" P27487 8101391 MGI:94919 RGD:2515 102720 S09.003 objectId:1612 CD26 3.4.14.5 HGNC:3009 "ENST00000360534.8|NM_001935.4" HGNC:40191 DPP4-DT DPP4 divergent transcript non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Divergent transcripts 1990 2019-07-25 2019-07-25 100131604 ENSG00000230918 OTTHUMG00000153863 NR_147697 HGNC:40191 -HGNC:3010 DPP6 dipeptidyl peptidase like 6 protein-coding gene gene with protein product Approved 7q36.2 07q36.2 "DPPX|DPL1" "dipeptidylpeptidase VI|dipeptidylpeptidase 6|dipeptidyl-peptidase 6|dipeptidyl peptidase 6" "Potassium voltage-gated channel regulatory subunits|DASH family" "858|1205" 1993-02-11 2016-02-08 2023-01-20 1804 ENSG00000130226 OTTHUMG00000151511 uc003wlk.4 M96859 NM_130797 "CCDS75683|CCDS75682|CCDS78291|CCDS75684|CCDS78290|CCDS94239|CCDS94238" P42658 "1729689|23593319" MGI:94921 RGD:68402 126141 232182 S09.973 HGNC:3010 "ENST00000377770.8|NM_130797.4" HGNC:3010 +HGNC:3010 DPP6 dipeptidyl peptidase like 6 protein-coding gene gene with protein product Approved 7q36.2 07q36.2 "DPPX|DPL1" "dipeptidylpeptidase VI|dipeptidylpeptidase 6|dipeptidyl-peptidase 6|dipeptidyl peptidase 6" "Potassium voltage-gated channel regulatory subunits|DASH family" "858|1205" 1993-02-11 2016-02-08 2023-01-20 1804 ENSG00000130226 OTTHUMG00000151511 uc003wlk.4 M96859 NM_130797 "CCDS75683|CCDS94238|CCDS75682|CCDS78290|CCDS78291|CCDS94239|CCDS75684" P42658 "1729689|23593319" MGI:94921 RGD:68402 126141 232182 S09.973 HGNC:3010 "ENST00000377770.8|NM_130797.4" HGNC:3010 HGNC:14892 DPP7 dipeptidyl peptidase 7 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "DPPII|DPP2" dipeptidylpeptidase 7 DASH family 1205 2001-04-20 2016-02-08 2023-01-20 29952 ENSG00000176978 OTTHUMG00000020977 uc004clh.4 AF154502 NM_013379 CCDS7030 Q9UHL4 "10477574|11139392" MGI:1933213 RGD:71073 610537 objectId:1605 HGNC:14892 "ENST00000371579.7|NM_013379.3" -HGNC:16490 DPP8 dipeptidyl peptidase 8 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "DP8|DPRP1|MSTP141|FLJ14920|FLJ20283|MGC26191" "dipeptidyl peptidase VIII|dipeptidyl peptidase IV-related protein-1|prolyl dipeptidase DPP8" "dipeptidylpeptidase 8|dipeptidyl-peptidase 8" DASH family 1205 2001-09-04 2016-02-05 2023-01-20 54878 ENSG00000074603 OTTHUMG00000133150 uc002aov.4 AF221634 NM_017743 "CCDS10208|CCDS10209|CCDS10207|CCDS10210" Q6V1X1 11012666 MGI:1921638 RGD:1310901 606819 S09.018 objectId:2356 3.4.14.5 HGNC:16490 "ENST00000300141.11|NM_130434.5" -HGNC:18648 DPP9 dipeptidyl peptidase 9 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 dipeptidylpeptidase 9 DASH family 1205 2002-05-21 2016-02-08 2023-01-20 91039 ENSG00000142002 OTTHUMG00000182040 uc002mba.5 AF452102 NM_001365987 "CCDS45928|CCDS92492|CCDS92491" Q86TI2 MGI:2443967 RGD:1588575 608258 353250 S09.019 objectId:2357 3.4.14.5 HGNC:18648 "ENST00000262960.14|NM_139159.5" +HGNC:16490 DPP8 dipeptidyl peptidase 8 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "DP8|DPRP1|MSTP141|FLJ14920|FLJ20283|MGC26191" "dipeptidyl peptidase VIII|dipeptidyl peptidase IV-related protein-1|prolyl dipeptidase DPP8" "dipeptidylpeptidase 8|dipeptidyl-peptidase 8" DASH family 1205 2001-09-04 2016-02-05 2023-01-20 54878 ENSG00000074603 OTTHUMG00000133150 uc002aov.4 AF221634 NM_017743 "CCDS10210|CCDS10207|CCDS10208|CCDS10209" Q6V1X1 11012666 MGI:1921638 RGD:1310901 606819 S09.018 objectId:2356 3.4.14.5 HGNC:16490 "ENST00000300141.11|NM_130434.5" +HGNC:18648 DPP9 dipeptidyl peptidase 9 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 dipeptidylpeptidase 9 DASH family 1205 2002-05-21 2016-02-08 2023-01-20 91039 ENSG00000142002 OTTHUMG00000182040 uc002mba.5 AF452102 NM_001365987 "CCDS92491|CCDS92492|CCDS45928" Q86TI2 MGI:2443967 RGD:1588575 608258 353250 S09.019 objectId:2357 3.4.14.5 HGNC:18648 "ENST00000262960.14|NM_139159.5" HGNC:50706 DPP9-AS1 DPP9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Antisense RNAs 1987 2014-06-11 2017-01-26 100131094 ENSG00000205790 OTTHUMG00000182047 NR_164163 DPP9-AS1 HGNC:50706 -HGNC:20823 DPP10 dipeptidyl peptidase like 10 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "DPRP3|DPL2|DPPY" "dipeptidylpeptidase 10|dipeptidyl-peptidase 10|dipeptidyl-peptidase 10 (inactive)" "Potassium voltage-gated channel regulatory subunits|DASH family" "858|1205" 2003-06-19 2016-02-08 2023-01-20 57628 ENSG00000175497 OTTHUMG00000153294 uc002tla.3 AY172661 NM_020868 "CCDS46400|CCDS33278|CCDS54388|CCDS54389" Q8N608 "10819331|12662155|26209633" MGI:2442409 RGD:1306427 608209 S09.974 HGNC:20823 "ENST00000410059.6|NM_020868.6" +HGNC:20823 DPP10 dipeptidyl peptidase like 10 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "DPRP3|DPL2|DPPY" "dipeptidylpeptidase 10|dipeptidyl-peptidase 10|dipeptidyl-peptidase 10 (inactive)" "Potassium voltage-gated channel regulatory subunits|DASH family" "858|1205" 2003-06-19 2016-02-08 2023-01-20 57628 ENSG00000175497 OTTHUMG00000153294 uc002tla.3 AY172661 NM_020868 "CCDS54388|CCDS46400|CCDS54389|CCDS33278" Q8N608 "10819331|12662155|26209633" MGI:2442409 RGD:1306427 608209 S09.974 HGNC:20823 "ENST00000410059.6|NM_020868.6" HGNC:40941 DPP10-AS1 DPP10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 BC032913 Antisense RNAs 1987 2013-10-14 2017-09-21 389023 ENSG00000235026 OTTHUMG00000153346 NR_036580 28918047 DPP10-AS1 HGNC:40941 HGNC:40940 DPP10-AS2 DPP10 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 Antisense RNAs 1987 2013-10-14 2015-07-29 106478969 ENSG00000235717 OTTHUMG00000153283 DPP10-AS2 HGNC:40939 DPP10-AS3 DPP10 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 Antisense RNAs 1987 2013-10-14 2014-11-19 101927591 ENSG00000231538 OTTHUMG00000153281 NR_132105 DPP10-AS3 HGNC:40939 @@ -7035,7 +7036,7 @@ HGNC:32171 DPRXP5 divergent-paired related homeobox pseudogene 5 pseudogene pseu HGNC:32172 DPRXP6 divergent-paired related homeobox pseudogene 6 pseudogene pseudogene Approved Xp11.4 Xp11.4 PRD class homeoboxes and pseudogenes 521 2005-08-08 2017-10-25 503647 ENSG00000270791 OTTHUMG00000185001 NG_004851 8362 PGOHUM00000305018 HGNC:32172 HGNC:32173 DPRXP7 divergent-paired related homeobox pseudogene 7 pseudogene pseudogene Approved Xq23 Xq23 PRD class homeoboxes and pseudogenes 521 2005-08-08 2017-10-25 503648 ENSG00000271464 OTTHUMG00000185258 NG_004852 8363 PGOHUM00000304804 HGNC:32173 HGNC:3011 DPT dermatopontin protein-coding gene gene with protein product Approved 1q24.2 01q24.2 1993-08-24 2023-01-20 1805 ENSG00000143196 OTTHUMG00000034554 uc001gfp.4 BC033736 NM_001937 CCDS1275 Q07507 8104875 MGI:1928392 RGD:1307176 125597 HGNC:3011 "ENST00000367817.4|NM_001937.5" -HGNC:22205 DPY19L1 dpy-19 like C-mannosyltransferase 1 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 KIAA0877 "dpy-19 like 1 (C. elegans)|dpy-19 like 1" MicroRNA protein coding host genes 1691 2005-07-19 2017-08-04 2023-01-20 23333 ENSG00000173852 OTTHUMG00000154888 uc003tem.5 AB020684 NM_001366673 "CCDS43567|CCDS94084" Q2PZI1 "22028030|28202721" MGI:1915685 RGD:1305822 613892 2.4.1.- HGNC:22205 "ENST00000638088.2|NM_001366673.1" +HGNC:22205 DPY19L1 dpy-19 like C-mannosyltransferase 1 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 KIAA0877 "dpy-19 like 1 (C. elegans)|dpy-19 like 1" MicroRNA protein coding host genes 1691 2005-07-19 2017-08-04 2023-01-20 23333 ENSG00000173852 OTTHUMG00000154888 uc003tem.5 AB020684 NM_001366673 "CCDS94084|CCDS43567" Q2PZI1 "22028030|28202721" MGI:1915685 RGD:1305822 613892 2.4.1.- HGNC:22205 "ENST00000638088.2|NM_001366673.1" HGNC:22395 DPY19L1P1 DPY19L1 pseudogene 1 pseudogene pseudogene Approved 7p14.3 07p14.3 dpy-19-like 1 pseudogene 1 (C. elegans) 2005-07-19 2013-09-12 2015-03-10 100129460 ENSG00000229358 OTTHUMG00000152928 NG_008293 PGOHUM00000302091 HGNC:22395 HGNC:22851 DPY19L1P2 DPY19L1 pseudogene 2 pseudogene pseudogene Approved 7p14.3 07p14.3 THC1072510 dpy-19-like 1 pseudogene 2 (C. elegans) 2005-07-19 2013-09-12 2020-04-20 102724668 ENSG00000231952 OTTHUMG00000152927 NR_132360 PGOHUM00000302575 HGNC:22851 HGNC:19414 DPY19L2 dpy-19 like 2 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 "FLJ32949|SPATA34" spermatogenesis associated 34 dpy-19 like 2 (C. elegans) 2005-07-19 2016-04-14 2023-01-20 283417 ENSG00000177990 OTTHUMG00000168712 uc001srp.2 NM_173812 CCDS31851 Q6NUT2 "12975309|21397064" MGI:2444662 RGD:1564311 613893 265487 HGNC:19414 "ENST00000324472.9|NM_173812.5" HGNC:19414 @@ -7055,8 +7056,8 @@ HGNC:40195 DPYD-AS1 DPYD antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:40196 DPYD-AS2 DPYD antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 DPYD antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-20 2012-08-15 2017-04-28 100873933 ENSG00000235777 OTTHUMG00000039680 uc031uik.2 NR_046591 28391028 DPYD-AS2 HGNC:40196 HGNC:41326 DPYD-IT1 DPYD intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 DPYD intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874267 ENSG00000232542 OTTHUMG00000039679 uc057iot.1 DPYD-IT1 HGNC:3013 DPYS dihydropyrimidinase protein-coding gene gene with protein product Approved 8q22.3 08q22.3 DHPase M38 metallopeptidases 1446 1997-02-27 2023-01-20 1807 ENSG00000147647 OTTHUMG00000164891 uc003yly.5 D78011 NM_001385 CCDS6302 Q14117 8973361 MGI:1928679 RGD:68376 613326 121174 M38.973 HGNC:3013 "ENST00000351513.7|NM_001385.3" HGNC:3013 -HGNC:3014 DPYSL2 dihydropyrimidinase like 2 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "DRP-2|DHPRP2|CRMP2|DRP2" dihydropyrimidinase-like 2 M38 metallopeptidases 1446 1997-02-27 2015-11-25 2023-01-20 1808 ENSG00000092964 OTTHUMG00000099439 uc003xfb.3 D78013 NM_001386 "CCDS6051|CCDS59096|CCDS83268" Q16555 8973361 MGI:1349763 RGD:2517 602463 470244 M38.975 HGNC:3014 "ENST00000521913.7|NM_001197293.3" HGNC:3014 -HGNC:3015 DPYSL3 dihydropyrimidinase like 3 protein-coding gene gene with protein product Approved 5q32 05q32 "DRP-3|ULIP|CRMP4" dihydropyrimidinase-like 3 M38 metallopeptidases 1446 1997-02-27 2015-11-25 2023-01-20 1809 ENSG00000113657 OTTHUMG00000163437 uc003lon.2 D78014 NM_001387 "CCDS56387|CCDS43381" Q14195 "8973361|9115293" MGI:1349762 RGD:2410 601168 470134 M38.976 HGNC:3015 "ENST00000343218.10|NM_001197294.2" +HGNC:3014 DPYSL2 dihydropyrimidinase like 2 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "DRP-2|DHPRP2|CRMP2|DRP2" dihydropyrimidinase-like 2 M38 metallopeptidases 1446 1997-02-27 2015-11-25 2023-01-20 1808 ENSG00000092964 OTTHUMG00000099439 uc003xfb.3 D78013 NM_001386 "CCDS59096|CCDS6051|CCDS83268" Q16555 8973361 MGI:1349763 RGD:2517 602463 470244 M38.975 HGNC:3014 "ENST00000521913.7|NM_001197293.3" HGNC:3014 +HGNC:3015 DPYSL3 dihydropyrimidinase like 3 protein-coding gene gene with protein product Approved 5q32 05q32 "DRP-3|ULIP|CRMP4" dihydropyrimidinase-like 3 M38 metallopeptidases 1446 1997-02-27 2015-11-25 2023-01-20 1809 ENSG00000113657 OTTHUMG00000163437 uc003lon.2 D78014 NM_001387 "CCDS43381|CCDS56387" Q14195 "8973361|9115293" MGI:1349762 RGD:2410 601168 470134 M38.976 HGNC:3015 "ENST00000343218.10|NM_001197294.2" HGNC:3016 DPYSL4 dihydropyrimidinase like 4 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "ULIP4|DRP-4|CRMP3" dihydropyrimidinase-like 4 M38 metallopeptidases 1446 1999-07-06 2015-11-25 2023-01-20 10570 ENSG00000151640 OTTHUMG00000019283 uc009ybb.4 AB006713 NM_006426 CCDS7665 O14531 "8973361|9652388" MGI:1349764 RGD:2409 608407 M38.977 HGNC:3016 "ENST00000338492.9|NM_006426.3" HGNC:20637 DPYSL5 dihydropyrimidinase like 5 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "CRMP5|Ulip6|CRMP-5|CRAM|CV2" collapsin response mediator protein 5 dihydropyrimidinase-like 5 M38 metallopeptidases 1446 2003-03-12 2015-11-25 2023-01-20 56896 ENSG00000157851 OTTHUMG00000097071 uc002rhu.4 AF264015 NM_020134 CCDS1730 Q9BPU6 "10851247|11034345" MGI:1929772 RGD:620467 608383 M38.978 HGNC:20637 "ENST00000288699.11|NM_020134.4" HGNC:20637 HGNC:20410 DQX1 DEAQ-box RNA dependent ATPase 1 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 FLJ23757 DEAQ box polypeptide 1 (RNA-dependent ATPase) 2004-02-04 2016-01-07 2023-01-20 165545 ENSG00000144045 OTTHUMG00000129965 uc010yrw.3 AK074337 NM_133637 CCDS1949 Q8TE96 MGI:2136388 RGD:1591766 HGNC:20410 "ENST00000404568.4|NM_133637.3" @@ -7068,10 +7069,10 @@ HGNC:3019 DRAP1 DR1 associated protein 1 protein-coding gene gene with protein p HGNC:25054 DRAXIN dorsal inhibitory axon guidance protein protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FLJ34999|Neucrin" "dorsal repulsive axon guidance protein|neural tissue-specific cysteine-rich protein" C1orf187 chromosome 1 open reading frame 187 2005-08-12 2012-08-14 2012-08-14 2023-01-20 374946 ENSG00000162490 OTTHUMG00000002227 uc001ass.4 AY358750 NM_198545 CCDS135 Q8NBI3 19150847 MGI:1917683 RGD:1585098 612682 HGNC:25054 "ENST00000294485.6|NM_198545.4" HGNC:44334 DRAXINP1 dorsal inhibitory axon guidance protein pseudogene 1 pseudogene pseudogene Approved Xp22.31 Xp22.31 2012-08-14 2012-08-14 100128801 ENSG00000225574 OTTHUMG00000021108 NG_022580 PGOHUM00000241180 HGNC:44334 HGNC:24245 DRC1 dynein regulatory complex subunit 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "MGC16372|FLJ32660|CILD21" "C2orf39|CCDC164" "chromosome 2 open reading frame 39|coiled-coil domain containing 164|dynein regulatory complex subunit 1 homolog (Chlamydomonas)" Dynein regulatory complex 981 2006-07-03 2013-03-14 2014-07-18 2023-01-20 92749 ENSG00000157856 OTTHUMG00000125531 uc002rhg.2 AL833892 NM_145038 CCDS1723 Q96MC2 23354437 MGI:2685906 RGD:1359318 615288 330717 HGNC:24245 "ENST00000288710.7|NM_145038.5" HGNC:24245 -HGNC:25384 DRC3 dynein regulatory complex subunit 3 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DKFZP586M1120|CFAP134" LRRC48 leucine rich repeat containing 48 "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2005-05-26 2015-10-05 2015-10-05 2023-01-20 83450 ENSG00000171962 OTTHUMG00000059355 AK093317 NM_031294 "CCDS45622|CCDS45623" Q9H069 "11997338|23354437" MGI:1921915 RGD:1309150 618758 HGNC:25384 "ENST00000399187.6|NM_031294.4" +HGNC:25384 DRC3 dynein regulatory complex subunit 3 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DKFZP586M1120|CFAP134" LRRC48 leucine rich repeat containing 48 "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2005-05-26 2015-10-05 2015-10-05 2023-01-20 83450 ENSG00000171962 OTTHUMG00000059355 AK093317 NM_031294 "CCDS45623|CCDS45622" Q9H069 "11997338|23354437" MGI:1921915 RGD:1309150 618758 HGNC:25384 "ENST00000399187.6|NM_031294.4" HGNC:25289 DRC7 dynein regulatory complex subunit 7 protein-coding gene gene with protein product Approved 16q21 16q21 "DKFZp434I099|FAP50|CFAP50" "C16orf50|CCDC135" "chromosome 16 open reading frame 50|coiled-coil domain containing 135" "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2005-03-10 2014-09-03 2014-09-03 2023-01-20 84229 ENSG00000159625 OTTHUMG00000133473 BC036667 NM_032269 "CCDS73894|CCDS10787" Q8IY82 "21289096|22983010" MGI:2685616 RGD:1565601 618769 HGNC:25289 "ENST00000360716.8|NM_001289162.2" HGNC:3020 DRD1 dopamine receptor D1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 Dopamine receptors 181 1990-04-27 2023-01-20 1812 ENSG00000184845 OTTHUMG00000130557 uc003mcz.4 X55760 NM_000794 CCDS4393 P21728 MGI:99578 RGD:2518 126449 objectId:214 HGNC:3020 "ENST00000393752.3|NM_000794.5" -HGNC:3023 DRD2 dopamine receptor D2 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "Dopamine receptors|MicroRNA protein coding host genes" "181|1691" 1989-02-23 2023-01-20 1813 ENSG00000149295 OTTHUMG00000167717 uc001poa.5 M29066 NM_000795 "CCDS8361|CCDS8362" P14416 MGI:94924 RGD:2520 126450 121177 objectId:215 HGNC:3023 "ENST00000362072.8|NM_000795.4" +HGNC:3023 DRD2 dopamine receptor D2 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "Dopamine receptors|MicroRNA protein coding host genes" "181|1691" 1989-02-23 2023-01-20 1813 ENSG00000149295 OTTHUMG00000167717 uc001poa.5 M29066 NM_000795 "CCDS8362|CCDS8361" P14416 MGI:94924 RGD:2520 126450 121177 objectId:215 HGNC:3023 "ENST00000362072.8|NM_000795.4" HGNC:3024 DRD3 dopamine receptor D3 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 Dopamine receptors 181 1991-05-06 2023-01-20 1814 ENSG00000151577 OTTHUMG00000159334 uc010hqn.2 NM_000796.3 "CCDS33829|CCDS2978" P35462 1916765 MGI:94925 RGD:2521 126451 121179 objectId:216 HGNC:3024 "ENST00000383673.5|NM_000796.6" HGNC:3025 DRD4 dopamine receptor D4 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 Dopamine receptors 181 1991-07-16 2023-01-20 1815 ENSG00000069696 OTTHUMG00000133312 uc001lqp.3 L12398 NM_000797 CCDS7710 P21917 MGI:94926 RGD:2522 126452 objectId:217 HGNC:3025 "ENST00000176183.6|NM_000797.4" HGNC:3026 DRD5 dopamine receptor D5 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 DRD1B DRD1L2 Dopamine receptors 181 1991-06-05 2023-01-20 1816 ENSG00000169676 OTTHUMG00000128489 uc003gmb.5 X58454 NM_000798 P21918 1774076 MGI:94927 RGD:2523 126453 470240 objectId:218 HGNC:3026 "ENST00000304374.4|NM_000798.5" HGNC:3026 @@ -7080,13 +7081,13 @@ HGNC:3028 DRD5P2 dopamine receptor D5 pseudogene 2 pseudogene pseudogene Approve HGNC:3029 DRG1 developmentally regulated GTP binding protein 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 NEDD3 developmentally regulated GTP-binding protein 1 1994-01-21 2001-11-28 2023-01-20 4733 ENSG00000185721 OTTHUMG00000030792 uc003aku.4 AJ005940 NM_004147 CCDS13897 Q9Y295 "7929244|1449490" MGI:1343297 RGD:1304993 603952 HGNC:3029 "ENST00000331457.9|NM_004147.4" HGNC:3029 HGNC:54701 DRG1P1 DRG1 pseudogene 1 pseudogene pseudogene Approved 2p24.1 02p24.1 2019-11-29 2020-01-21 151457 ENSG00000235411 NG_021495 HGNC:56484 DRG1P2 DRG1 pseudogene 2 pseudogene pseudogene Approved 3q13.32 03q13.32 2022-10-20 2022-10-20 100421670 ENSG00000240393 NG_025612 PGOHUM00000299142 -HGNC:3030 DRG2 developmentally regulated GTP binding protein 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 developmentally regulated GTP-binding protein 2 1997-10-21 2001-11-28 2023-01-20 1819 ENSG00000108591 OTTHUMG00000059399 uc002gsh.3 X80754 NM_001388 "CCDS82082|CCDS11191" P55039 "9605870|7929244" MGI:1342307 RGD:1562380 602986 HGNC:3030 "ENST00000225729.8|NM_001388.5" +HGNC:3030 DRG2 developmentally regulated GTP binding protein 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 developmentally regulated GTP-binding protein 2 1997-10-21 2001-11-28 2023-01-20 1819 ENSG00000108591 OTTHUMG00000059399 uc002gsh.3 X80754 NM_001388 "CCDS11191|CCDS82082" P55039 "9605870|7929244" MGI:1342307 RGD:1562380 602986 HGNC:3030 "ENST00000225729.8|NM_001388.5" HGNC:21536 DRGX dorsal root ganglia homeobox protein-coding gene gene with protein product Approved 10q11.23 10q11.23 DRG11 paired-like homeodomain trancription factor DRG11 PRRXL1 paired related homeobox-like 1 PRD class homeoboxes and pseudogenes 521 2004-02-02 2007-07-26 2007-07-26 2023-01-20 644168 ENSG00000165606 OTTHUMG00000018192 uc057tel.1 NM_001276451 CCDS44388 A6NNA5 7496632 MGI:2148204 RGD:628616 606701 8579 HGNC:21536 "ENST00000374139.8|NM_001276451.2" HGNC:28031 DRICH1 aspartate rich 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 C22orf43 chromosome 22 open reading frame 43 2009-04-06 2014-02-19 2016-06-06 2023-01-20 51233 ENSG00000189269 OTTHUMG00000186352 BC056888 NM_016449 CCDS42985 Q6PGQ1 11230166 HGNC:28031 "ENST00000317749.9|NM_016449.4" -HGNC:17904 DROSHA drosha ribonuclease III protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "RNASE3L|Etohi2|HSA242976|RN3" "drosha, ribonuclease type III|drosha, double-stranded RNA-specific endoribonuclease" RNASEN "ribonuclease type III, nuclear|drosha, ribonuclease type III" Endoribonucleases 1687 2005-05-12 2010-10-28 2016-01-21 2023-01-20 29102 ENSG00000113360 OTTHUMG00000161976 uc003jhg.3 AF116910 NM_013235 "CCDS47195|CCDS47194" Q9NRR4 "10713462|10948199" MGI:1261425 RGD:1307626 DROSHA 608828 3.1.26.3 HGNC:17904 "ENST00000344624.8|NM_001382508.1" -HGNC:3032 DRP2 dystrophin related protein 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 Zinc fingers ZZ-type 91 1996-07-17 2023-01-20 1821 ENSG00000102385 OTTHUMG00000022020 uc065agk.1 U43519 NM_001939 "CCDS14480|CCDS55465" Q13474 8640231 MGI:107432 RGD:621750 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DRP2 300052 470242 HGNC:3032 "ENST00000395209.8|NM_001939.3" HGNC:3032 +HGNC:17904 DROSHA drosha ribonuclease III protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "RNASE3L|Etohi2|HSA242976|RN3" "drosha, ribonuclease type III|drosha, double-stranded RNA-specific endoribonuclease" RNASEN "ribonuclease type III, nuclear|drosha, ribonuclease type III" Endoribonucleases 1687 2005-05-12 2010-10-28 2016-01-21 2023-01-20 29102 ENSG00000113360 OTTHUMG00000161976 uc003jhg.3 AF116910 NM_013235 "CCDS47194|CCDS47195" Q9NRR4 "10713462|10948199" MGI:1261425 RGD:1307626 DROSHA 608828 3.1.26.3 HGNC:17904 "ENST00000344624.8|NM_001382508.1" +HGNC:3032 DRP2 dystrophin related protein 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 Zinc fingers ZZ-type 91 1996-07-17 2023-01-20 1821 ENSG00000102385 OTTHUMG00000022020 uc065agk.1 U43519 NM_001939 "CCDS55465|CCDS14480" Q13474 8640231 MGI:107432 RGD:621750 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DRP2 300052 470242 HGNC:3032 "ENST00000395209.8|NM_001939.3" HGNC:3032 HGNC:3035 DSC1 desmocollin 1 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 CDHF1 Desmosomal cadherins 1188 1991-09-25 2023-01-20 1823 ENSG00000134765 OTTHUMG00000131982 uc002kwn.4 AF293358 "NM_004948|NM_024421" "CCDS11895|CCDS11894" Q08554 8486729 MGI:109173 RGD:1310768 125643 HGNC:3035 "ENST00000257198.6|NM_024421.2" -HGNC:3036 DSC2 desmocollin 2 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 CDHF2 DSC3 Desmosomal cadherins 1188 1997-05-29 2023-01-20 1824 ENSG00000134755 OTTHUMG00000131981 uc002kwl.5 X56807 NM_004949 "CCDS92447|CCDS11893|CCDS11892" Q02487 7774948 MGI:103221 RGD:1309426 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DSC2|LRG_400|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_400.xml" 125645 121185 HGNC:3036 "ENST00000280904.11|NM_024422.6" HGNC:3036 +HGNC:3036 DSC2 desmocollin 2 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 CDHF2 DSC3 Desmosomal cadherins 1188 1997-05-29 2023-01-20 1824 ENSG00000134755 OTTHUMG00000131981 uc002kwl.5 X56807 NM_004949 "CCDS11892|CCDS92447|CCDS11893" Q02487 7774948 MGI:103221 RGD:1309426 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DSC2|LRG_400|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_400.xml" 125645 121185 HGNC:3036 "ENST00000280904.11|NM_024422.6" HGNC:3036 HGNC:3037 DSC3 desmocollin 3 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "CDHF3|DSC|DSC1|DSC2" DSC4 Desmosomal cadherins 1188 1991-03-04 2023-03-15 1825 ENSG00000134762 OTTHUMG00000179622 uc002kwj.5 X83929 "NM_001941|NM_024423" CCDS32810 Q14574 "7774948|8486729" MGI:1194993 RGD:1311782 600271 220928 HGNC:3037 "ENST00000360428.9|NM_001941.5" HGNC:3037 HGNC:3039 DSCAM DS cell adhesion molecule protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "CHD2-42|CHD2-52" Down syndrome cell adhesion molecule "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family|MicroRNA protein coding host genes" "555|593|1410|1691" 1998-06-10 2016-05-13 2023-01-20 1826 ENSG00000171587 OTTHUMG00000086732 uc002yyq.2 AF023449 NM_001389 CCDS42929 O60469 9426258 MGI:1196281 RGD:619992 602523 470246 HGNC:3039 "ENST00000400454.6|NM_001389.5" HGNC:3039 HGNC:40197 DSCAM-AS1 DSCAM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 M41 DSCAM antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-20 2012-08-15 2017-02-17 100506492 ENSG00000235123 OTTHUMG00000086733 uc002yys.3 NR_038896 27666543 DSCAM-AS1 HGNC:40197 @@ -7099,7 +7100,7 @@ HGNC:41328 DSCR4-IT1 DSCR4 intronic transcript 1 non-coding RNA RNA, long non-co HGNC:16707 DSCR8 Down syndrome critical region 8 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 "MTAG2|CT25.1a|CT25.1b|MMA-1a|MMA-1b" "cancer/testis antigen family 25, member 1a|cancer/testis antigen family 25, member 1b|malignant melanoma-associated 1" C21orf65 "chromosome 21 open reading frame 65|Down syndrome critical region 8 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-09-28 2018-05-11 2019-09-05 84677 ENSG00000198054 OTTHUMG00000090610 uc062abe.1 AF321193 NR_026838 Q96T75 "9503011|12036297|11920614" 613396 HGNC:16707 HGNC:16301 DSCR9 Down syndrome critical region 9 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 NCRNA00038 non-protein coding RNA 38 Down syndrome critical region 9 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2002-08-15 2018-05-11 2023-03-15 257203 ENSG00000230366 OTTHUMG00000086655 uc031rvh.2 AB066100 NR_026719 P59020 12168953 DSCR9 HGNC:16301 HGNC:16302 DSCR10 Down syndrome critical region 10 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 Down syndrome critical region 10 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2002-08-15 2018-05-11 2023-03-15 259234 ENSG00000233316 OTTHUMG00000090611 uc010gnt.2 AB066291 NR_027695.1 P59022 12168953 DSCR10 HGNC:16302 -HGNC:21144 DSE dermatan sulfate epimerase protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "DSEPI|DS-Epi1" SART2 squamous cell carcinoma antigen recognized by T cells 2 2003-05-20 2007-01-29 2007-01-29 2023-01-20 29940 ENSG00000111817 OTTHUMG00000015434 uc003pws.5 AF098066 NM_013352 "CCDS87432|CCDS5107|CCDS87433" Q9UL01 "11920522|16505484" MGI:2443455 RGD:1305079 LRG_1184|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1184.xml 605942 358666 5.1.3.19 HGNC:21144 "ENST00000644252.3|NM_013352.4" HGNC:21144 +HGNC:21144 DSE dermatan sulfate epimerase protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "DSEPI|DS-Epi1" SART2 squamous cell carcinoma antigen recognized by T cells 2 2003-05-20 2007-01-29 2007-01-29 2023-01-20 29940 ENSG00000111817 OTTHUMG00000015434 uc003pws.5 AF098066 NM_013352 "CCDS5107|CCDS87433|CCDS87432" Q9UL01 "11920522|16505484" MGI:2443455 RGD:1305079 LRG_1184|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1184.xml 605942 358666 5.1.3.19 HGNC:21144 "ENST00000644252.3|NM_013352.4" HGNC:21144 HGNC:18144 DSEL dermatan sulfate epimerase like protein-coding gene gene with protein product Approved 18q22.1 18q22.1 "NCAG1|FLJ11477|DE-epi2" C18orf4 "chromosome 18 open reading frame 4|dermatan sulfate epimerase-like" 2002-02-12 2007-01-29 2018-02-05 2023-01-20 92126 ENSG00000171451 OTTHUMG00000132804 uc002lke.2 AF480435 NM_032160 CCDS11995 Q8IZU8 "16505484|19188366" MGI:2442948 RGD:1307724 611125 5.1.3.19 HGNC:18144 "ENST00000310045.9|NM_032160.3" HGNC:55325 DSEL-AS1 DSEL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q22.1 18q22.1 Antisense RNAs 1987 2020-10-21 2020-10-21 643542 ENSG00000265533 NR_033921 HGNC:3048 DSG1 desmoglein 1 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 CDHF4 DSG Desmosomal cadherins 1188 1991-03-04 2023-01-20 1828 ENSG00000134760 OTTHUMG00000131983 uc002kwp.4 X56654 NM_001942 CCDS11896 Q02413 1889810 "MGI:2664357|MGI:2664358|MGI:94930" RGD:1309925 125670 121189 HGNC:3048 "ENST00000257192.5|NM_001942.4" HGNC:3048 @@ -7108,48 +7109,48 @@ HGNC:3049 DSG2 desmoglein 2 protein-coding gene gene with protein product Approv HGNC:51311 DSG2-AS1 DSG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q12.1 18q12.1 Antisense RNAs 1987 2014-09-26 2014-09-26 100652770 ENSG00000264859 OTTHUMG00000179650 BC042986 NR_045216 DSG2-AS1 HGNC:51311 HGNC:3050 DSG3 desmoglein 3 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 CDHF6 pemphigus vulgaris antigen desmoglein 3 (pemphigus vulgaris antigen) Desmosomal cadherins 1188 1992-08-25 2010-06-24 2023-01-20 1830 ENSG00000134757 OTTHUMG00000131985 uc002kws.4 M76482 NM_001944 CCDS11898 P32926 1601426 MGI:99499 RGD:1592103 169615 HGNC:3050 "ENST00000257189.5|NM_001944.3" HGNC:21307 DSG4 desmoglein 4 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "CDHF13|LAH" Desmosomal cadherins 1188 2003-06-04 2023-01-20 147409 ENSG00000175065 OTTHUMG00000131979 uc002kwq.3 "AY177664|AY168788" NM_177986 "CCDS11897|CCDS45845" Q86SJ6 12648213 MGI:2661061 RGD:735015 607892 159421 HGNC:21307 "ENST00000308128.9|NM_177986.5" HGNC:21307 -HGNC:16165 DSN1 DSN1 component of MIS12 kinetochore complex protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "dJ469A13.2|MIS13|KNL3|hKNL-3" kinetochore null 3 homolog (C. elegans) C20orf172 "chromosome 20 open reading frame 172|DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)|DSN1 homolog, MIS12 kinetochore complex component" MIS12 kinetochore complex 1322 2001-07-17 2006-11-07 2019-01-25 2023-01-20 79980 ENSG00000149636 OTTHUMG00000032396 uc002xga.4 AK023408 NM_024918 "CCDS46596|CCDS46597|CCDS13286" Q9H410 "16585270|20819937" MGI:1914184 RGD:1565179 609175 HGNC:16165 "ENST00000373750.9|NM_001145315.2" +HGNC:16165 DSN1 DSN1 component of MIS12 kinetochore complex protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "dJ469A13.2|MIS13|KNL3|hKNL-3" kinetochore null 3 homolog (C. elegans) C20orf172 "chromosome 20 open reading frame 172|DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)|DSN1 homolog, MIS12 kinetochore complex component" MIS12 kinetochore complex 1322 2001-07-17 2006-11-07 2019-01-25 2023-01-20 79980 ENSG00000149636 OTTHUMG00000032396 uc002xga.4 AK023408 NM_024918 "CCDS13286|CCDS46596|CCDS46597" Q9H410 "16585270|20819937" MGI:1914184 RGD:1565179 609175 HGNC:16165 "ENST00000373750.9|NM_001145315.2" HGNC:3052 DSP desmoplakin protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "KPPS2|PPKS2|DPI|DPII" desmoplakin (DPI, DPII) Plakins 939 1991-03-04 2003-05-20 2023-01-20 1832 ENSG00000096696 OTTHUMG00000014212 uc003mxp.2 J05211 NM_004415 "CCDS47368|CCDS4501" P15924 1889810 MGI:109611 RGD:1305794 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DSP|LRG_423|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_423.xml" 125647 121196 HGNC:3052 "ENST00000379802.8|NM_004415.4" HGNC:3052 HGNC:56039 DSP-AS1 DSP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p24.3 06p24.3 "RP3-512B11.3|ABL" APAF1-binding lncRNA Antisense RNAs 1987 2021-12-08 2022-10-14 101928076 ENSG00000261189 NR_183327 35975461 HGNC:3054 DSPP dentin sialophosphoprotein protein-coding gene gene with protein product Approved 4q22.1 04q22.1 DMP3 "DFNA39|DGI1" SIBLING family 1279 1997-01-08 2023-01-20 1834 ENSG00000152591 OTTHUMG00000161061 uc003hqu.3 AF163151 NM_014208 CCDS43248 Q9NZW4 "8995371|9533027" MGI:109172 RGD:2525 LRG_1242|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1242.xml 125485 121202 HGNC:3054 "ENST00000651931.1|NM_014208.3" HGNC:3054 -HGNC:1090 DST dystonin protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "BP240|KIAA0728|FLJ21489|FLJ13425|FLJ32235|FLJ30627|CATX-15|BPA|MACF2" BPAG1 bullous pemphigoid antigen 1, 230/240kDa "EF-hand domain containing|Plakins" "863|939" 1990-05-11 2004-07-01 2004-06-25 2023-03-15 667 ENSG00000151914 OTTHUMG00000014913 uc063peq.1 "M22942|M69225" NM_001723 "CCDS47443|CCDS4959|CCDS93934|CCDS93936|CCDS75474|CCDS93935" Q03001 "2461961|2276744" MGI:104627 RGD:1306566 113810 293042 HGNC:1090 "ENST00000680361.1|NM_001374736.1" HGNC:1090 +HGNC:1090 DST dystonin protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "BP240|KIAA0728|FLJ21489|FLJ13425|FLJ32235|FLJ30627|CATX-15|BPA|MACF2" BPAG1 bullous pemphigoid antigen 1, 230/240kDa "EF-hand domain containing|Plakins" "863|939" 1990-05-11 2004-07-01 2004-06-25 2023-03-15 667 ENSG00000151914 OTTHUMG00000014913 uc063peq.1 "M22942|M69225" NM_001723 "CCDS93934|CCDS93935|CCDS93936|CCDS47443|CCDS75474|CCDS4959" Q03001 "2461961|2276744" MGI:104627 RGD:1306566 113810 293042 HGNC:1090 "ENST00000680361.1|NM_001374736.1" HGNC:1090 HGNC:40098 DST-AS1 DST antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 Antisense RNAs 1987 2019-07-25 2019-07-25 101930010 ENSG00000231441 OTTHUMG00000014909 NR_125866 HGNC:40098 -HGNC:15750 DSTN destrin, actin depolymerizing factor protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "ADF|ACTDP" destrin (actin depolymerizing factor) 2001-12-07 2016-04-05 2023-01-20 11034 ENSG00000125868 OTTHUMG00000031947 uc002wpr.4 S65738 NM_001011546 "CCDS46580|CCDS13127" P60981 "8399167|2156828" MGI:1929270 RGD:1588366 609114 HGNC:15750 "ENST00000246069.12|NM_006870.4" +HGNC:15750 DSTN destrin, actin depolymerizing factor protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "ADF|ACTDP" destrin (actin depolymerizing factor) 2001-12-07 2016-04-05 2023-01-20 11034 ENSG00000125868 OTTHUMG00000031947 uc002wpr.4 S65738 NM_001011546 "CCDS13127|CCDS46580" P60981 "8399167|2156828" MGI:1929270 RGD:1588366 609114 HGNC:15750 "ENST00000246069.12|NM_006870.4" HGNC:23769 DSTNP1 DSTN pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 "destrin (actin depolymerizing factor) pseudogene 1|destrin, actin depolymerizing factor pseudogene 1" 2003-12-15 2019-01-21 2019-01-21 387492 ENSG00000230982 OTTHUMG00000048830 NG_028763 PGOHUM00000258117 HGNC:23769 HGNC:34546 DSTNP2 DSTN pseudogene 2 pseudogene pseudogene Approved 12p13.31 12p13.31 "destrin (actin depolymerizing factor) pseudogene 2|destrin, actin depolymerizing factor pseudogene 2" 2010-09-30 2019-01-21 2019-01-21 171220 ENSG00000248593 OTTHUMG00000156666 U72518 NR_033796 PGOHUM00000239634 HGNC:34546 HGNC:34547 DSTNP3 DSTN pseudogene 3 pseudogene pseudogene Approved 8q21.11 08q21.11 "destrin (actin depolymerizing factor) pseudogene 3|destrin, actin depolymerizing factor pseudogene 3" 2010-09-30 2019-01-21 2020-04-06 100287016 ENSG00000253833 OTTHUMG00000164503 NG_028172 PGOHUM00000249715 HGNC:34547 HGNC:44548 DSTNP4 DSTN pseudogene 4 pseudogene pseudogene Approved 3p22.2 03p22.2 "destrin (actin depolymerizing factor) pseudogene 4|destrin, actin depolymerizing factor pseudogene 4" 2012-11-15 2019-01-21 2019-01-21 729454 ENSG00000215034 OTTHUMG00000156247 XM_047449432 PGOHUM00000237998 HGNC:44548 HGNC:44549 DSTNP5 DSTN pseudogene 5 pseudogene pseudogene Approved 2q33.3 02q33.3 "destrin (actin depolymerizing factor) pseudogene 5|destrin, actin depolymerizing factor pseudogene 5" 2012-11-15 2019-01-21 2019-01-21 100132132 ENSG00000236681 OTTHUMG00000154541 NG_021600 PGOHUM00000241085 HGNC:44549 -HGNC:29043 DSTYK dual serine/threonine and tyrosine protein kinase protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "KIAA0472|DustyPK|RIP5" "RIPK5|SPG23" "receptor interacting protein kinase 5|spastic paraplegia 23 (autosomal recessive)" 2004-08-02 2008-12-18 2008-12-18 2023-01-20 25778 ENSG00000133059 OTTHUMG00000037102 uc001hbw.4 AF068286 NM_015375 "CCDS1452|CCDS1451" Q6XUX3 "15178406|28157540" MGI:1925064 RGD:735051 612666 406487 objectId:2008 HGNC:29043 "ENST00000367162.8|NM_015375.3" HGNC:29043 +HGNC:29043 DSTYK dual serine/threonine and tyrosine protein kinase protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "KIAA0472|DustyPK|RIP5" "RIPK5|SPG23" "receptor interacting protein kinase 5|spastic paraplegia 23 (autosomal recessive)" 2004-08-02 2008-12-18 2008-12-18 2023-01-20 25778 ENSG00000133059 OTTHUMG00000037102 uc001hbw.4 AF068286 NM_015375 "CCDS1451|CCDS1452" Q6XUX3 "15178406|28157540" MGI:1925064 RGD:735051 612666 406487 objectId:2008 HGNC:29043 "ENST00000367162.8|NM_015375.3" HGNC:29043 HGNC:16219 DTD1 D-aminoacyl-tRNA deacylase 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "DUEB|MGC119131|MGC41905|bA379J5.3|bA555E18.1|pqn-68" DNA-unwinding element-binding protein B "C20orf88|HARS2" "chromosome 20 open reading frame 88|D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)|D-tyrosyl-tRNA deacylase 1" 2001-07-17 2007-02-23 2019-03-14 2023-01-20 92675 ENSG00000125821 OTTHUMG00000031980 uc002wrf.5 AF332356 NM_080820 "CCDS86938|CCDS13138" Q8TEA8 MGI:1913294 RGD:1311821 610996 3.1.1.96 HGNC:16219 "ENST00000377452.4|NM_080820.6" HGNC:40762 DTD1-AS1 DTD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 Antisense RNAs 1987 2019-07-25 2019-07-25 101929526 ENSG00000233993 OTTHUMG00000046204 NR_109955 HGNC:40762 HGNC:20277 DTD2 D-aminoacyl-tRNA deacylase 2 protein-coding gene gene with protein product Approved 14q12 14q12 MGC9912 C14orf126 "chromosome 14 open reading frame 126|D-tyrosyl-tRNA deacylase 2 (putative)" 2003-01-17 2012-09-25 2019-03-14 2023-01-20 112487 ENSG00000129480 OTTHUMG00000140205 uc001wrj.5 BC010618 NM_080664 CCDS9643 Q96FN9 29410408 MGI:1923485 RGD:1309138 HGNC:20277 "ENST00000310850.9|NM_080664.3" HGNC:37261 DTHD1 death domain containing 1 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ16686 2009-10-02 2023-03-15 401124 ENSG00000197057 OTTHUMG00000160371 uc021xne.2 AK094684 NM_001136536 CCDS54754 Q6ZMT9 MGI:4937018 RGD:2323176 616979 HGNC:37261 "ENST00000639862.2|NM_001170700.3" HGNC:37261 -HGNC:30288 DTL denticleless E3 ubiquitin protein ligase homolog protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "RAMP|L2DTL|DCAF2|CDT2" "RA regulated nuclear matrix associated protein|DDB1 and CUL4 associated factor 2" "denticleless homolog (Drosophila)|denticleless E3 ubiquitin protein ligase homolog (Drosophila)" "WD repeat domain containing|DDB1 and CUL4 associated factors|MicroRNA protein coding host genes" "362|498|1691" 2005-05-16 2016-01-19 2023-01-20 51514 ENSG00000143476 OTTHUMG00000037133 uc009xdc.5 AF195765 NM_016448 "CCDS1502|CCDS65778" Q9NZJ0 11278750 MGI:1924093 RGD:1310439 610617 HGNC:30288 "ENST00000366991.5|NM_016448.4" -HGNC:3057 DTNA dystrobrevin alpha protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "D18S892E|DTN|DTN-1|DTN-2|DTN-3|DRP3" dystrophin-related protein 3 dystrobrevin, alpha Zinc fingers ZZ-type 91 1998-02-11 2015-12-01 2023-03-15 1837 ENSG00000134769 OTTHUMG00000132309 uc002kyb.6 U84540 NM_001390 "CCDS56061|CCDS56062|CCDS92448|CCDS92449|CCDS11909|CCDS56060|CCDS56063|CCDS92450|CCDS59309|CCDS11908|CCDS59310|CCDS59311|CCDS59314|CCDS59312|CCDS59313|CCDS42426|CCDS45848" Q9Y4J8 "8081380|15834686" MGI:106039 RGD:1561985 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/DTNA|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DTNA|LRG_756|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_756.xml" 601239 121219 HGNC:3057 "ENST00000444659.6|NM_001386795.1" HGNC:3057 -HGNC:3058 DTNB dystrobrevin beta protein-coding gene gene with protein product Approved 2p23.3 02p23.3 dystrobrevin, beta Zinc fingers ZZ-type 91 1998-02-11 2015-11-05 2023-03-15 1838 ENSG00000138101 OTTHUMG00000152129 uc002rgh.5 AF022728 NM_033147 "CCDS46235|CCDS46237|CCDS82428|CCDS74496|CCDS46234|CCDS46233|CCDS46236" O60941 9419360 MGI:1203728 RGD:1309579 602415 HGNC:3058 "ENST00000406818.8|NM_021907.5" +HGNC:30288 DTL denticleless E3 ubiquitin protein ligase homolog protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "RAMP|L2DTL|DCAF2|CDT2" "RA regulated nuclear matrix associated protein|DDB1 and CUL4 associated factor 2" "denticleless homolog (Drosophila)|denticleless E3 ubiquitin protein ligase homolog (Drosophila)" "WD repeat domain containing|DDB1 and CUL4 associated factors|MicroRNA protein coding host genes" "362|498|1691" 2005-05-16 2016-01-19 2023-01-20 51514 ENSG00000143476 OTTHUMG00000037133 uc009xdc.5 AF195765 NM_016448 "CCDS65778|CCDS1502" Q9NZJ0 11278750 MGI:1924093 RGD:1310439 610617 HGNC:30288 "ENST00000366991.5|NM_016448.4" +HGNC:3057 DTNA dystrobrevin alpha protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "D18S892E|DTN|DTN-1|DTN-2|DTN-3|DRP3" dystrophin-related protein 3 dystrobrevin, alpha Zinc fingers ZZ-type 91 1998-02-11 2015-12-01 2023-03-15 1837 ENSG00000134769 OTTHUMG00000132309 uc002kyb.6 U84540 NM_001390 "CCDS92450|CCDS59314|CCDS42426|CCDS92448|CCDS56061|CCDS56063|CCDS92449|CCDS56062|CCDS11909|CCDS59313|CCDS11908|CCDS59311|CCDS59310|CCDS59309|CCDS45848|CCDS56060|CCDS59312" Q9Y4J8 "8081380|15834686" MGI:106039 RGD:1561985 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/DTNA|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DTNA|LRG_756|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_756.xml" 601239 121219 HGNC:3057 "ENST00000444659.6|NM_001386795.1" HGNC:3057 +HGNC:3058 DTNB dystrobrevin beta protein-coding gene gene with protein product Approved 2p23.3 02p23.3 dystrobrevin, beta Zinc fingers ZZ-type 91 1998-02-11 2015-11-05 2023-03-15 1838 ENSG00000138101 OTTHUMG00000152129 uc002rgh.5 AF022728 NM_033147 "CCDS46237|CCDS46234|CCDS46236|CCDS46233|CCDS46235|CCDS82428|CCDS74496" O60941 9419360 MGI:1203728 RGD:1309579 602415 HGNC:3058 "ENST00000406818.8|NM_021907.5" HGNC:40198 DTNB-AS1 DTNB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 Antisense RNAs 1987 2019-07-25 2019-07-25 101929272 ENSG00000224220 OTTHUMG00000155125 NR_183378 HGNC:40198 -HGNC:17328 DTNBP1 dystrobrevin binding protein 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "Dysbindin|My031|HPS7|DBND|BLOC1S8" "dysbindin-1|biogenesis of lysosomal organelles complex-1, subunit 8" Biogenesis of lysosomal organelles complex 1 subunits 452 2002-01-15 2023-03-15 84062 ENSG00000047579 OTTHUMG00000014295 uc031smw.2 AF394226 NM_032122 "CCDS4534|CCDS75404|CCDS4535|CCDS75405" Q96EV8 11316798 MGI:2137586 RGD:1590759 LRG_588|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_588.xml 607145 121227 HGNC:17328 "ENST00000344537.10|NM_032122.5" HGNC:17328 +HGNC:17328 DTNBP1 dystrobrevin binding protein 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "Dysbindin|My031|HPS7|DBND|BLOC1S8" "dysbindin-1|biogenesis of lysosomal organelles complex-1, subunit 8" Biogenesis of lysosomal organelles complex 1 subunits 452 2002-01-15 2023-03-15 84062 ENSG00000047579 OTTHUMG00000014295 uc031smw.2 AF394226 NM_032122 "CCDS4535|CCDS75405|CCDS4534|CCDS75404" Q96EV8 11316798 MGI:2137586 RGD:1590759 LRG_588|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_588.xml 607145 121227 HGNC:17328 "ENST00000344537.10|NM_032122.5" HGNC:17328 HGNC:30926 DTWD1 DTW domain containing 1 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "MDS009|MGC111207" 2005-07-21 2023-01-20 56986 ENSG00000104047 OTTHUMG00000131567 uc001zxq.4 BC032535 NM_020234 CCDS10132 Q8N5C7 MGI:1916435 RGD:1311144 HGNC:30926 "ENST00000403028.8|NM_001144955.2" HGNC:56550 DTWD1P1 DTWD1 pseudogene 1 pseudogene pseudogene Approved 3q23 03q23 2022-10-31 2022-10-31 124296660 ENSG00000214280 NG_078842 PGOHUM00000299197 HGNC:56551 DTWD1P2 DTWD1 pseudogene 2 pseudogene pseudogene Approved 3q25.31 03q25.31 2022-10-31 2022-10-31 100419750 ENSG00000243518 NG_025646 PGOHUM00000299236 -HGNC:19334 DTWD2 DTW domain containing 2 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 FLJ33977 2005-07-21 2023-01-20 285605 ENSG00000169570 OTTHUMG00000162956 uc003ksa.4 NM_173666 "CCDS78050|CCDS34216" Q8NBA8 MGI:1916107 RGD:1306423 HGNC:19334 "ENST00000510708.6|NM_173666.4" +HGNC:19334 DTWD2 DTW domain containing 2 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 FLJ33977 2005-07-21 2023-01-20 285605 ENSG00000169570 OTTHUMG00000162956 uc003ksa.4 NM_173666 "CCDS34216|CCDS78050" Q8NBA8 MGI:1916107 RGD:1306423 HGNC:19334 "ENST00000510708.6|NM_173666.4" HGNC:3060 DTX1 deltex E3 ubiquitin ligase 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "hDx-1|RNF140" deltex homolog 1 (Drosophila) Ring finger proteins 58 1998-05-15 2016-06-10 2023-01-20 1840 ENSG00000135144 OTTHUMG00000169610 uc001tuk.2 AF053700 NM_004416 CCDS9164 Q86Y01 "9590294|12670957" MGI:1352744 RGD:1585380 602582 HGNC:3060 "ENST00000548759.2|NM_004416.3" HGNC:15973 DTX2 deltex E3 ubiquitin ligase 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "RNF58|KIAA1528" "deltex (Drosophila) homolog 2|deltex homolog 2 (Drosophila)|deltex 2, E3 ubiquitin ligase" Ring finger proteins 58 2001-08-13 2016-06-10 2023-01-20 113878 ENSG00000091073 OTTHUMG00000162594 uc003uff.5 NM_001102594 "CCDS43605|CCDS5587" Q86UW9 12670957 MGI:1921448 RGD:1561790 613141 6.3.2.- HGNC:15973 "ENST00000430490.7|NM_001102594.3" HGNC:42352 DTX2P1 DTX2 pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 2011-06-29 2014-01-28 2014-01-28 107161144 ENSG00000186704 OTTHUMG00000155661 NG_046686 PGOHUM00000250953 HGNC:42352 HGNC:42360 DTX2P1-UPK3BP1-PMS2P11 DTX2P1-UPK3BP1-PMS2P11 readthrough, transcribed pseudogene other readthrough Approved 7q11.23 07q11.23 DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) 2011-07-06 2016-02-03 2016-02-03 441263 ENSG00000265479 OTTHUMG00000179528 uc011kgn.2 U38980 NR_023383 HGNC:42360 -HGNC:24457 DTX3 deltex E3 ubiquitin ligase 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "FLJ34766|RNF154" "deltex 3 homolog (Drosophila)|deltex homolog 3 (Drosophila)" Ring finger proteins 58 2004-02-23 2016-06-10 2023-01-20 196403 ENSG00000178498 OTTHUMG00000170189 uc031zdt.2 AK094385 NM_178502 "CCDS66410|CCDS41800" Q8N9I9 12670957 MGI:2135752 RGD:1566181 613142 HGNC:24457 "ENST00000337737.8|NM_178502.4" +HGNC:24457 DTX3 deltex E3 ubiquitin ligase 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "FLJ34766|RNF154" "deltex 3 homolog (Drosophila)|deltex homolog 3 (Drosophila)" Ring finger proteins 58 2004-02-23 2016-06-10 2023-01-20 196403 ENSG00000178498 OTTHUMG00000170189 uc031zdt.2 AK094385 NM_178502 "CCDS41800|CCDS66410" Q8N9I9 12670957 MGI:2135752 RGD:1566181 613142 HGNC:24457 "ENST00000337737.8|NM_178502.4" HGNC:30323 DTX3L deltex E3 ubiquitin ligase 3L protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "BBAP|RNF143" rhysin 2 deltex 3-like (Drosophila) Ring finger proteins 58 2004-12-03 2016-06-10 2023-01-20 151636 ENSG00000163840 OTTHUMG00000159524 uc003efk.4 NM_138287 CCDS3015 Q8TDB6 "12670957|22411408" MGI:2656973 RGD:1565144 613143 HGNC:30323 "ENST00000296161.9|NM_138287.3" -HGNC:29151 DTX4 deltex E3 ubiquitin ligase 4 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "KIAA0937|RNF155" deltex homolog 4 (Drosophila) Ring finger proteins 58 2004-02-23 2016-06-10 2023-01-20 23220 ENSG00000110042 OTTHUMG00000167336 uc001nns.3 AB023154 NM_015177 "CCDS44612|CCDS76408" Q9Y2E6 "10231032|22388039" MGI:2672905 RGD:1311767 616110 HGNC:29151 "ENST00000227451.4|NM_015177.2" +HGNC:29151 DTX4 deltex E3 ubiquitin ligase 4 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "KIAA0937|RNF155" deltex homolog 4 (Drosophila) Ring finger proteins 58 2004-02-23 2016-06-10 2023-01-20 23220 ENSG00000110042 OTTHUMG00000167336 uc001nns.3 AB023154 NM_015177 "CCDS76408|CCDS44612" Q9Y2E6 "10231032|22388039" MGI:2672905 RGD:1311767 616110 HGNC:29151 "ENST00000227451.4|NM_015177.2" HGNC:3061 DTYMK deoxythymidylate kinase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "CDC8|TYMK|TMPK" "dTMP kinase|thymidylate (dTMP) kinase" deoxythymidylate kinase (thymidylate kinase) 1991-09-12 2015-11-05 2023-01-20 1841 ENSG00000168393 OTTHUMG00000133409 uc002wbz.3 X54729 NM_012145 CCDS2552 P23919 "2017365|8024690" MGI:108396 RGD:1309614 188345 2.7.4.9 HGNC:3061 "ENST00000305784.7|NM_012145.4" HGNC:3061 HGNC:48569 DUBR DPPA2 upstream binding RNA non-coding RNA RNA, long non-coding Approved 3q13.12 03q13.12 LINC00883 long intergenic non-protein coding RNA 883 Long non-coding RNAs with non-systematic symbols 1992 2013-05-17 2015-09-10 2015-09-10 2015-09-10 344595 ENSG00000243701 OTTHUMG00000159173 NR_028301 "24886442|25686699" MGI:1915440 616619 DUBR HGNC:48569 HGNC:3062 DUOX1 dual oxidase 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "NOXEF1|THOX1|LNOX1" "NADPH thyroid oxidase 1|flavoprotein NADPH oxidase|nicotinamide adenine dinucleotide phosphate oxidase" EF-hand domain containing 863 2000-05-30 2023-01-20 53905 ENSG00000137857 OTTHUMG00000171987 uc001zus.3 AF213465 NM_017434 CCDS32221 Q9NRD9 10806195 MGI:2139422 RGD:628760 606758 470248 objectId:3000 HGNC:3062 "ENST00000389037.7|NM_175940.3" -HGNC:13273 DUOX2 dual oxidase 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "P138-TOX|P138(TOX)|THOX2|LNOX2" "dual oxidase-like domains 2|nicotinamide adenine dinucleotide phosphate oxidase|flavoprotein NADPH oxidase|NADPH thyroid oxidase 2|NADH/NADPH thyroid oxidase p138-tox|NADPH oxidase/peroxidase DUOX2" EF-hand domain containing 863 2000-11-09 2023-01-20 50506 ENSG00000140279 OTTHUMG00000131355 uc010bea.4 AF181972 NM_014080 "CCDS10117|CCDS86454" Q9NRD8 "10601291|10806195" MGI:3036280 RGD:628761 606759 121233 objectId:2999 HGNC:13273 "ENST00000389039.11|NM_001363711.2" HGNC:13273 -HGNC:26507 DUOXA1 dual oxidase maturation factor 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "FLJ32334|NUMBIP|NIP|mol" 2006-05-16 2006-07-25 2006-01-23 2023-01-20 90527 ENSG00000140254 OTTHUMG00000131352 uc001zuq.3 BC029819 NM_144565 "CCDS10119|CCDS61621|CCDS61619|CCDS61620" Q1HG43 16651268 MGI:2384861 RGD:1306601 612771 470250 HGNC:26507 "ENST00000560572.6|NM_001276266.2" +HGNC:13273 DUOX2 dual oxidase 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "P138-TOX|P138(TOX)|THOX2|LNOX2" "dual oxidase-like domains 2|nicotinamide adenine dinucleotide phosphate oxidase|flavoprotein NADPH oxidase|NADPH thyroid oxidase 2|NADH/NADPH thyroid oxidase p138-tox|NADPH oxidase/peroxidase DUOX2" EF-hand domain containing 863 2000-11-09 2023-01-20 50506 ENSG00000140279 OTTHUMG00000131355 uc010bea.4 AF181972 NM_014080 "CCDS86454|CCDS10117" Q9NRD8 "10601291|10806195" MGI:3036280 RGD:628761 606759 121233 objectId:2999 HGNC:13273 "ENST00000389039.11|NM_001363711.2" HGNC:13273 +HGNC:26507 DUOXA1 dual oxidase maturation factor 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "FLJ32334|NUMBIP|NIP|mol" 2006-05-16 2006-07-25 2006-01-23 2023-01-20 90527 ENSG00000140254 OTTHUMG00000131352 uc001zuq.3 BC029819 NM_144565 "CCDS61620|CCDS10119|CCDS61619|CCDS61621" Q1HG43 16651268 MGI:2384861 RGD:1306601 612771 470250 HGNC:26507 "ENST00000560572.6|NM_001276266.2" HGNC:32698 DUOXA2 dual oxidase maturation factor 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 2006-05-16 2006-07-25 2023-01-20 405753 ENSG00000140274 OTTHUMG00000131354 uc001zuo.4 BX537581 NM_207581 CCDS10118 Q1HG44 16651268 MGI:1914061 RGD:1560628 612772 168179 HGNC:32698 "ENST00000323030.6|NM_207581.4" HGNC:32698 HGNC:30086 DUS1L dihydrouridine synthase 1 like protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "PP3111|DUS1" dihydrouridine synthase 1-like (S. cerevisiae) 2005-05-05 2016-02-15 2023-01-20 64118 ENSG00000169718 OTTHUMG00000178525 uc002kdr.5 NM_022156 CCDS32775 Q6P1R4 12477932 MGI:1915980 RGD:708389 HGNC:30086 "ENST00000306796.10|NM_022156.5" HGNC:26014 DUS2 dihydrouridine synthase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ20399|SMM1" "SMM1 homolog (S. cerevisiae)|tRNA-dihydrouridine(20) synthase (NAD(P)(+))" DUS2L "dihydrouridine synthase 2-like (SMM1, S. cerevisiae)|dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)|dihydrouridine synthase 2-like" 2005-05-05 2013-07-23 2013-07-23 2023-01-20 54920 ENSG00000167264 OTTHUMG00000137538 NM_017803 "CCDS61970|CCDS10859" Q9NX74 "15994936|22741570" MGI:1913619 RGD:1305612 609707 1.3.1.91 HGNC:26014 "ENST00000565263.6|NM_017803.5" -HGNC:26920 DUS3L dihydrouridine synthase 3 like protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "DUS3|FLJ13896" dihydrouridine synthase 3-like (S. cerevisiae) 2005-05-05 2016-02-15 2023-01-20 56931 ENSG00000141994 OTTHUMG00000162311 uc002mdc.4 NM_020175 "CCDS32880|CCDS54202" Q96G46 12477932 MGI:2147092 RGD:1563228 HGNC:26920 "ENST00000309061.12|NM_020175.3" +HGNC:26920 DUS3L dihydrouridine synthase 3 like protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "DUS3|FLJ13896" dihydrouridine synthase 3-like (S. cerevisiae) 2005-05-05 2016-02-15 2023-01-20 56931 ENSG00000141994 OTTHUMG00000162311 uc002mdc.4 NM_020175 "CCDS54202|CCDS32880" Q96G46 12477932 MGI:2147092 RGD:1563228 HGNC:26920 "ENST00000309061.12|NM_020175.3" HGNC:21517 DUS4L dihydrouridine synthase 4 like protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "PP35|DUS4" protein similar to E.coli yhdg and R. capsulatus nifR3 dihydrouridine synthase 4-like (S. cerevisiae) 2005-05-05 2016-02-03 2023-01-20 11062 ENSG00000105865 OTTHUMG00000154763 uc003veh.5 U62767 NM_181581 CCDS5745 O95620 MGI:1919166 RGD:1311445 HGNC:21517 "ENST00000265720.8|NM_181581.3" HGNC:54422 DUS4L-BCAP29 DUS4L-BCAP29 readthrough other readthrough Approved 7q22.3 07q22.3 2019-07-22 2020-11-11 115253422 ENSG00000288558 NM_001371364 28415823 HGNC:54422 HGNC:3064 DUSP1 dual specificity phosphatase 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "HVH1|CL100|MKP-1" PTPN10 MAP kinase phosphatases 895 1993-03-03 2023-01-20 1843 ENSG00000120129 OTTHUMG00000130523 uc003mbv.3 X68277 NM_004417 CCDS4380 P28562 "1406996|7806236" MGI:105120 RGD:620897 600714 HGNC:3064 "ENST00000239223.4|NM_004417.4" @@ -7160,7 +7161,7 @@ HGNC:3071 DUSP5 dual specificity phosphatase 5 protein-coding gene gene with pro HGNC:55154 DUSP5-DT DUSP5 divergent transcript non-coding RNA RNA, long non-coding Approved 10q25.2 10q25.2 Divergent transcripts 1990 2020-07-15 2020-07-15 105378481 ENSG00000273143 XR_946316 HGNC:32020 DUSP5P1 dual specificity phosphatase 5 pseudogene 1 pseudogene pseudogene Approved 1q42.13 01q42.13 FLJ34941 DUSP5P dual specificity phosphatase 5 pseudogene 2005-06-30 2012-11-07 2012-11-07 2014-11-19 574029 ENSG00000183929 OTTHUMG00000037916 AK092260 NR_002834 PGOHUM00000245243 HGNC:32020 HGNC:44482 DUSP5P2 dual specificity phosphatase 5 pseudogene 2 pseudogene pseudogene Approved 3p25.3 03p25.3 2012-11-07 2012-11-07 643459 ENSG00000235338 OTTHUMG00000155065 NG_022237 PGOHUM00000237929 HGNC:44482 -HGNC:3072 DUSP6 dual specificity phosphatase 6 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 "MKP-3|PYST1" MAP kinase phosphatases 895 1997-03-19 2023-01-20 1848 ENSG00000139318 OTTHUMG00000169912 uc001tay.5 BC037236 "NM_001946|NM_022652" "CCDS9034|CCDS9033" Q16828 "8626780|9205128" MGI:1914853 RGD:70978 602748 353744 HGNC:3072 "ENST00000279488.8|NM_001946.4" HGNC:3072 +HGNC:3072 DUSP6 dual specificity phosphatase 6 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 "MKP-3|PYST1" MAP kinase phosphatases 895 1997-03-19 2023-01-20 1848 ENSG00000139318 OTTHUMG00000169912 uc001tay.5 BC037236 "NM_001946|NM_022652" "CCDS9033|CCDS9034" Q16828 "8626780|9205128" MGI:1914853 RGD:70978 602748 353744 HGNC:3072 "ENST00000279488.8|NM_001946.4" HGNC:3072 HGNC:3073 DUSP7 dual specificity phosphatase 7 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "MKP-X|PYST2" MAP kinase phosphatases 895 1997-03-19 2023-01-20 1849 ENSG00000164086 OTTHUMG00000157819 uc003dct.4 X93921 NM_001947 CCDS33766 Q16829 "8626780|9205128" MGI:2387100 RGD:735026 602749 HGNC:3073 "ENST00000495880.2|NM_001947.4" HGNC:3074 DUSP8 dual specificity phosphatase 8 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "HVH-5|HB5|FLJ42958" "serine/threonine specific protein phosphatase|H1 phosphatase, vaccinia virus homolog" C11orf81 chromosome 11 open reading frame 81 MAP kinase phosphatases 895 1997-05-09 2023-01-20 1850 ENSG00000184545 OTTHUMG00000133348 uc001lts.3 NM_004420 CCDS7724 Q13202 "7561881|9192849" MGI:106626 RGD:1306425 602038 HGNC:3074 "ENST00000397374.8|NM_004420.3" HGNC:3075 DUSP8P1 dual specificity phosphatase 8 pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 HVH4 "DUSP8P|DUSP8P3|DUSPP" "dual specificity phosphatase 8 pseudogene|dual specificity phosphatase 8 pseudogene 3|dual specificity phosphatase pseudogene" 1997-05-09 2013-01-07 2013-01-07 2020-04-20 441554 ENSG00000215065 NG_022176 9192849 PGOHUM00000238780 HGNC:3075 @@ -7172,19 +7173,19 @@ HGNC:3066 DUSP11 dual specificity phosphatase 11 protein-coding gene gene with p HGNC:3067 DUSP12 dual specificity phosphatase 12 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "YVH1|DUSP1" "serine/threonine specific protein phosphatase|YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog" Atypical dual specificity phosphatases 896 2000-01-31 2023-01-20 11266 ENSG00000081721 OTTHUMG00000034540 uc001gbo.4 AF119226 NM_007240 CCDS1234 Q9UNI6 10446167 MGI:1890614 RGD:68375 604835 HGNC:3067 "ENST00000367943.5|NM_007240.3" HGNC:49059 DUSP12P1 dual specificity phosphatase 12 pseudogene 1 pseudogene pseudogene Approved 3q12.1 03q12.1 2013-08-19 2015-09-21 100420473 ENSG00000277000 OTTHUMG00000187563 NG_025604 PGOHUM00000299104 HGNC:49059 HGNC:56772 DUSP13A dual specificity phosphatase 13A protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "MDSP|BEDP" "muscle-restricted dual specificity phosphatase|branching-enzyme interacting dual specificity phosphatase|branching-enzyme interacting DSP" Atypical dual specificity phosphatases 896 2023-03-17 2023-05-10 128854680 NM_001007271 CCDS53542 "15252030|29106959" -HGNC:19681 DUSP13B dual specificity phosphatase 13B protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "TMDP|SKRP4" Testis- and skeletal muscle-specific DUSP DUSP13 dual specificity phosphatase 13 Atypical dual specificity phosphatases 896 2002-11-11 2023-03-17 2023-03-17 2023-03-17 51207 ENSG00000079393 OTTHUMG00000018516 uc057ufm.1 AB027004 NM_001363514 "CCDS7346|CCDS31224|CCDS86105" "Q6B8I1|Q9UII6" "10585869|15252030" MGI:1351599 RGD:1359712 613191 HGNC:19681 "ENST00000478873.7|NM_001363514.2" +HGNC:19681 DUSP13B dual specificity phosphatase 13B protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "TMDP|SKRP4" Testis- and skeletal muscle-specific DUSP DUSP13 dual specificity phosphatase 13 Atypical dual specificity phosphatases 896 2002-11-11 2023-03-17 2023-03-17 2023-03-17 51207 ENSG00000079393 OTTHUMG00000018516 uc057ufm.1 AB027004 NM_001363514 "CCDS31224|CCDS7346|CCDS86105" "Q6B8I1|Q9UII6" "10585869|15252030" MGI:1351599 RGD:1359712 613191 HGNC:19681 "ENST00000478873.7|NM_001363514.2" HGNC:17007 DUSP14 dual specificity phosphatase 14 protein-coding gene gene with protein product Approved 17q12 17q12 "MKP-L|MKP6" MKP-1 like protein tyrosine phosphatase Atypical dual specificity phosphatases 896 2002-01-09 2023-01-20 11072 ENSG00000276023 OTTHUMG00000188472 uc032gia.2 AF038844 NM_007026 CCDS11320 O95147 11123293 MGI:1927168 RGD:1307415 606618 HGNC:17007 "ENST00000617516.5|NM_007026.4" -HGNC:16236 DUSP15 dual specificity phosphatase 15 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "bA243J16.6|VHY|FLJ20645|bA243J16.5" C20orf57 "dual specificity phosphatase-like 15|chromosome 20 open reading frame 57" Atypical dual specificity phosphatases 896 2001-07-17 2005-03-09 2023-01-20 128853 ENSG00000149599 OTTHUMG00000032182 uc002wwx.2 NM_080611 "CCDS13193|CCDS42862|CCDS82607|CCDS82606" Q9H1R2 15138252 MGI:1934928 RGD:1305990 616776 HGNC:16236 "ENST00000339738.10|NM_080611.5" +HGNC:16236 DUSP15 dual specificity phosphatase 15 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "bA243J16.6|VHY|FLJ20645|bA243J16.5" C20orf57 "dual specificity phosphatase-like 15|chromosome 20 open reading frame 57" Atypical dual specificity phosphatases 896 2001-07-17 2005-03-09 2023-01-20 128853 ENSG00000149599 OTTHUMG00000032182 uc002wwx.2 NM_080611 "CCDS82606|CCDS82607|CCDS13193|CCDS42862" Q9H1R2 15138252 MGI:1934928 RGD:1305990 616776 HGNC:16236 "ENST00000339738.10|NM_080611.5" HGNC:17909 DUSP16 dual specificity phosphatase 16 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "MKP-7|KIAA1700|MKP7" MAPK phosphatase-7 MAP kinase phosphatases 895 2002-08-20 2023-01-20 80824 ENSG00000111266 OTTHUMG00000168582 uc001rao.3 AB052156 NM_030640 CCDS8650 Q9BY84 "11359773|11489891|15888437" MGI:1917936 RGD:1310721 607175 HGNC:17909 "ENST00000298573.9|NM_030640.3" -HGNC:18484 DUSP18 dual specificity phosphatase 18 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 DUSP20 Atypical dual specificity phosphatases 896 2003-02-14 2023-01-20 150290 ENSG00000167065 OTTHUMG00000151115 uc021wnv.2 AF461689 NM_001304794 "CCDS77667|CCDS13883" Q8NEJ0 12408986 MGI:1922469 RGD:1306929 611446 HGNC:18484 "ENST00000334679.4|NM_152511.5" +HGNC:18484 DUSP18 dual specificity phosphatase 18 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 DUSP20 Atypical dual specificity phosphatases 896 2003-02-14 2023-01-20 150290 ENSG00000167065 OTTHUMG00000151115 uc021wnv.2 AF461689 NM_001304794 "CCDS13883|CCDS77667" Q8NEJ0 12408986 MGI:1922469 RGD:1306929 611446 HGNC:18484 "ENST00000334679.4|NM_152511.5" HGNC:18894 DUSP19 dual specificity phosphatase 19 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "SKRP1|DUSP17" Atypical dual specificity phosphatases 896 2002-11-11 2023-01-20 142679 ENSG00000162999 OTTHUMG00000132622 uc002upd.4 AB038770 NM_001142314 Q8WTR2 MGI:1915332 RGD:1307457 611437 HGNC:18894 "ENST00000354221.5|NM_080876.4" HGNC:20476 DUSP21 dual specificity phosphatase 21 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 Atypical dual specificity phosphatases 896 2003-02-17 2023-01-20 63904 ENSG00000189037 OTTHUMG00000021401 uc004dgd.4 AF143321 NM_022076 CCDS14264 Q9H596 12408986 MGI:1920797 RGD:1560427 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DUSP21 300678 HGNC:20476 "ENST00000339042.6|NM_022076.4" -HGNC:16077 DUSP22 dual specificity phosphatase 22 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 "MKPX|JSP1|JKAP|VHX" Atypical dual specificity phosphatases 896 2003-05-19 2023-01-20 56940 ENSG00000112679 OTTHUMG00000014113 uc003msy.3 AF165519 NM_020185 "CCDS69035|CCDS4468" Q9NRW4 "9205128|11717427" MGI:1915926 RGD:1307146 616778 HGNC:16077 "ENST00000419235.7|NM_001286555.3" +HGNC:16077 DUSP22 dual specificity phosphatase 22 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 "MKPX|JSP1|JKAP|VHX" Atypical dual specificity phosphatases 896 2003-05-19 2023-01-20 56940 ENSG00000112679 OTTHUMG00000014113 uc003msy.3 AF165519 NM_020185 "CCDS4468|CCDS69035" Q9NRW4 "9205128|11717427" MGI:1915926 RGD:1307146 616778 HGNC:16077 "ENST00000419235.7|NM_001286555.3" HGNC:21480 DUSP23 dual specificity phosphatase 23 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "FLJ20442|DUSP25" Atypical dual specificity phosphatases 896 2004-06-10 2023-01-20 54935 ENSG00000158716 OTTHUMG00000022795 uc001fua.2 NM_017823 CCDS1187 Q9BVJ7 15147733 MGI:1915690 RGD:1309202 618361 HGNC:21480 "ENST00000368107.2|NM_001319658.2" HGNC:28161 DUSP26 dual specificity phosphatase 26 protein-coding gene gene with protein product Approved 8p12 08p12 "MGC1136|DUSP24|NEAP" neuroendocrine-associated phosphatase dual specificity phosphatase 26 (putative) Atypical dual specificity phosphatases 896 2005-03-09 2016-12-02 2023-01-20 78986 ENSG00000133878 OTTHUMG00000163961 uc003xjp.4 AY902194 NM_024025 CCDS6092 Q9BV47 "15796912|20562916|28701747" MGI:1914209 RGD:1310090 618368 HGNC:28161 "ENST00000256261.9|NM_024025.3" HGNC:33237 DUSP28 dual specificity phosphatase 28 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "VHP|DUSP26" Atypical dual specificity phosphatases 896 2007-01-04 2023-01-20 285193 ENSG00000188542 OTTHUMG00000152310 uc002vzg.3 BC036198 NM_001033575 CCDS33418 Q4G0W2 MGI:1914696 RGD:1595220 HGNC:33237 "ENST00000405954.2|NM_001370465.2" HGNC:23481 DUSP29 dual specificity phosphatase 29 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 DUSP27 DUPD1 dual specificity phosphatase and pro isomerase domain containing 1 Atypical dual specificity phosphatases 896 2003-11-19 2020-06-01 2020-06-01 2023-01-20 338599 ENSG00000188716 OTTHUMG00000018512 uc001jwq.1 NM_001003892 CCDS31223 Q68J44 MGI:3647127 RGD:1310229 618574 HGNC:23481 "ENST00000338487.6|NM_001003892.3" -HGNC:3078 DUT deoxyuridine triphosphatase protein-coding gene gene with protein product Approved 15q21.1 15q21.1 dUTPase dUTP diphosphatase dUTP pyrophosphatase 1995-09-28 2007-12-17 2023-01-20 1854 ENSG00000128951 OTTHUMG00000172155 uc001zww.4 M89913 NM_001025248 "CCDS45255|CCDS81879|CCDS45256|CCDS32231" P33316 "1325640|9070952" MGI:1346051 RGD:620849 601266 3.6.1.23 HGNC:3078 "ENST00000331200.8|NM_001025248.2" +HGNC:3078 DUT deoxyuridine triphosphatase protein-coding gene gene with protein product Approved 15q21.1 15q21.1 dUTPase dUTP diphosphatase dUTP pyrophosphatase 1995-09-28 2007-12-17 2023-01-20 1854 ENSG00000128951 OTTHUMG00000172155 uc001zww.4 M89913 NM_001025248 "CCDS45256|CCDS45255|CCDS81879|CCDS32231" P33316 "1325640|9070952" MGI:1346051 RGD:620849 601266 3.6.1.23 HGNC:3078 "ENST00000331200.8|NM_001025248.2" HGNC:55420 DUT-AS1 DUT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 Antisense RNAs 1987 2021-01-07 2021-01-07 107984757 ENSG00000259488 HGNC:31956 DUTP1 deoxyuridine triphosphatase pseudogene 1 pseudogene pseudogene Approved 3q21.2 03q21.2 DUTL "dUTP pyrophosphatase-like|deoxyuridine triphosphatase-like" 2005-04-11 2011-02-09 2011-02-09 2014-11-19 548637 ENSG00000229048 OTTHUMG00000159443 AF090907 NG_028739 PGOHUM00000238159 HGNC:31956 HGNC:39515 DUTP2 deoxyuridine triphosphatase pseudogene 2 pseudogene pseudogene Approved 8q24.13 08q24.13 2011-02-11 2014-11-18 100873909 ENSG00000254388 OTTHUMG00000165091 NG_032312 PGOHUM00000249790 HGNC:39515 @@ -7196,7 +7197,7 @@ HGNC:39520 DUTP7 deoxyuridine triphosphatase pseudogene 7 pseudogene pseudogene HGNC:39521 DUTP8 deoxyuridine triphosphatase pseudogene 8 pseudogene pseudogene Approved 4q23 04q23 2011-02-11 2014-11-18 100873914 ENSG00000214904 OTTHUMG00000160959 NG_032317 PGOHUM00000246007 HGNC:39521 HGNC:3079 DUX1 double homeobox 1 protein-coding gene gene with protein product Approved not on reference assembly not on reference assembly double homeobox, 1 1999-12-01 2010-07-20 2019-07-17 26584 AJ001481 NM_012146 O43812 "9736770|11245978" 611441 HGNC:3081 DUX3 double homeobox 3 protein-coding gene gene with protein product Approved not on reference assembly not on reference assembly 1999-12-01 2010-07-20 2019-07-17 26582 AF133130 NM_012148 Q96PT4 11245978 611443 -HGNC:50800 DUX4 double homeobox 4 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 2014-06-20 2023-01-20 100288687 ENSG00000260596 OTTHUMG00000175568 NM_001293798 "CCDS77990|CCDS93681" Q9UBX2 20724583 RGD:1311053 LRG_1075|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1075.xml 606009 476816 HGNC:50800 "ENST00000565211.1|NM_001306068.3" +HGNC:50800 DUX4 double homeobox 4 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 2014-06-20 2023-01-20 100288687 ENSG00000260596 OTTHUMG00000175568 NM_001293798 "CCDS93681|CCDS77990" Q9UBX2 20724583 RGD:1311053 LRG_1075|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1075.xml 606009 476816 HGNC:50800 "ENST00000565211.1|NM_001306068.3" HGNC:3082 DUX4L1 double homeobox 4 like 1 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 DUX4 "double homeobox 4|double homeobox 4 like 1" PRD class homeoboxes and pseudogenes 521 1999-12-01 2014-06-20 2018-10-24 2023-03-15 22947 ENSG00000280757 OTTHUMG00000161317 uc032uhw.2 D38024 NG_034172 9089 121239 PGOHUM00000306581 HGNC:3082 HGNC:37267 DUX4L2 double homeobox 4 like 2 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 double homeobox 4 like 2 PRD class homeoboxes and pseudogenes 521 2010-07-19 2018-10-24 2023-03-15 728410 ENSG00000280457 OTTHUMG00000161316 NG_034178 P0CJ85 9091 PGOHUM00000306583 HGNC:37267 HGNC:38688 DUX4L3 double homeobox 4 like 3 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 double homeobox 4 like 3 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2023-03-15 653548 ENSG00000281627 OTTHUMG00000161319 NG_034177 P0CJ86 9090 PGOHUM00000306582 HGNC:38688 @@ -7263,13 +7264,13 @@ HGNC:32189 DUXAP10 double homeobox A pseudogene 10 pseudogene pseudogene Approve HGNC:51812 DUXAP11 double homeobox A pseudogene 11 pseudogene pseudogene Approved 16q21 16q21 2015-06-11 2015-06-11 106481741 ENSG00000270222 OTTHUMG00000184807 NG_043545 PGOHUM00000293885 HGNC:51812 HGNC:51813 DUXAP12 double homeobox A pseudogene 12 pseudogene pseudogene Approved 14q24.2 14q24.2 2015-06-11 2015-06-11 100419081 NG_027290 PGOHUM00000292397 HGNC:51813 HGNC:33345 DUXB double homeobox B protein-coding gene gene with protein product Approved 16q23.1 16q23.1 PRD class homeoboxes and pseudogenes 521 2007-02-15 2023-01-20 100033411 ENSG00000282757 OTTHUMG00000191435 NM_001351307 CCDS86542 A0A1W2PPF3 "17005330|17668377" MGI:1916048 618698 8580 HGNC:33345 "ENST00000633875.4|NM_001351307.2" -HGNC:3084 DVL1 dishevelled segment polarity protein 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "dishevelled 1 (homologous to Drosophila dsh)|dishevelled, dsh homolog 1 (Drosophila)" "Dishevelled segment polarity proteins|PDZ domain containing|MicroRNA protein coding host genes" "505|1220|1691" 1996-03-12 2013-05-22 2023-03-15 1855 ENSG00000107404 OTTHUMG00000003069 uc002quu.4 AF006011 NM_004421 "CCDS22|CCDS81252" O14640 8817329 MGI:94941 RGD:620632 601365 426034 HGNC:3084 "ENST00000378888.10|NM_001330311.2" HGNC:3084 +HGNC:3084 DVL1 dishevelled segment polarity protein 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "dishevelled 1 (homologous to Drosophila dsh)|dishevelled, dsh homolog 1 (Drosophila)" "Dishevelled segment polarity proteins|PDZ domain containing|MicroRNA protein coding host genes" "505|1220|1691" 1996-03-12 2013-05-22 2023-03-15 1855 ENSG00000107404 OTTHUMG00000003069 uc002quu.4 AF006011 NM_004421 "CCDS81252|CCDS22" O14640 8817329 MGI:94941 RGD:620632 601365 426034 HGNC:3084 "ENST00000378888.10|NM_001330311.2" HGNC:3084 HGNC:3085 DVL1P1 dishevelled segment polarity protein 1 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 DVL-22 DVL1L1 "dishevelled 1-like 1 (homologous to Drosophila dsh)|dishevelled, dsh homolog 1 (Drosophila)-like 1|dishevelled, dsh homolog 1 (Drosophila) pseudogene 1" 1999-10-29 2013-03-15 2013-05-22 2016-10-05 8215 U46462 NG_009878 P54792 "8644734|10591208" MGI:94941 601225 HGNC:3085 HGNC:3086 DVL2 dishevelled segment polarity protein 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "dishevelled 2 (homologous to Drosophila dsh)|dishevelled, dsh homolog 2 (Drosophila)" "Dishevelled segment polarity proteins|PDZ domain containing" "505|1220" 1996-03-12 2013-05-22 2023-01-20 1856 ENSG00000004975 OTTHUMG00000102155 uc002gez.2 BC014844 NM_004422 CCDS11091 O14641 8662242 MGI:106613 RGD:1309725 602151 470252 HGNC:3086 "ENST00000005340.10|NM_004422.3" HGNC:3087 DVL3 dishevelled segment polarity protein 3 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 KIAA0208 "dishevelled 3 (homologous to Drosophila dsh)|dishevelled, dsh homolog 3 (Drosophila)" "Dishevelled segment polarity proteins|PDZ domain containing" "505|1220" 1997-04-21 2013-05-22 2023-01-20 1857 ENSG00000161202 OTTHUMG00000156841 uc003fms.4 D86963 NM_004423 CCDS3253 Q92997 8817329 MGI:108100 RGD:1308834 LRG_1269|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1269.xml 601368 456808 HGNC:3087 "ENST00000313143.9|NM_004423.4" HGNC:3087 HGNC:2992 DXO decapping exoribonuclease protein-coding gene gene with protein product Approved 6p21.33 06p21.33 DOM3Z "DOM-3 (C. elegans) homolog Z|dom-3 homolog Z (C. elegans)" 1998-07-16 2013-09-11 2013-09-11 2023-01-20 1797 ENSG00000204348 OTTHUMG00000031272 AF059252 NM_001371205 CCDS4732 O77932 "9799600|23523372" MGI:1890444 RGD:1303267 605996 HGNC:2992 "ENST00000337523.10|NM_005510.4" HGNC:23460 DYDC1 DPY30 domain containing 1 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "bA36D19.5|DPY30D1" 2004-05-27 2023-01-20 143241 ENSG00000170788 OTTHUMG00000018609 uc001kbx.6 BC019250 NM_138812 CCDS7366 Q8WWB3 MGI:1916746 RGD:1588855 615154 HGNC:23460 "ENST00000372202.6|NM_001269053.2" -HGNC:23468 DYDC2 DPY30 domain containing 2 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "bA36D19.6|MGC16186" 2004-05-27 2023-01-20 84332 ENSG00000133665 OTTHUMG00000018610 uc001kbz.4 BC018606 NM_032372 "CCDS58088|CCDS7367" Q96IM9 12477932 MGI:1918450 RGD:1588866 HGNC:23468 "ENST00000256039.3|NM_032372.6" +HGNC:23468 DYDC2 DPY30 domain containing 2 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "bA36D19.6|MGC16186" 2004-05-27 2023-01-20 84332 ENSG00000133665 OTTHUMG00000018610 uc001kbz.4 BC018606 NM_032372 "CCDS7367|CCDS58088" Q96IM9 12477932 MGI:1918450 RGD:1588866 HGNC:23468 "ENST00000256039.3|NM_032372.6" HGNC:21317 DYM dymeclin protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "FLJ20071|DMC|SMC" "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2005-01-05 2023-01-20 54808 ENSG00000141627 OTTHUMG00000132659 uc002ldi.2 AK000078 NM_017653 "CCDS11937|CCDS92460|CCDS92459" Q7RTS9 MGI:1918480 RGD:1309111 607461 121241 HGNC:21317 "ENST00000675505.1|NM_001353214.3" HGNC:21317 HGNC:37046 DYM-AS1 DYM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 Antisense RNAs 1987 2021-11-12 2021-11-12 100129878 ENSG00000264269 NR_148999 HGNC:26808 DYNAP dynactin associated protein protein-coding gene gene with protein product Approved 18q21.2 18q21.2 FLJ39106 C18orf26 chromosome 18 open reading frame 26 2004-05-20 2012-10-24 2012-10-24 2023-01-20 284254 ENSG00000178690 OTTHUMG00000132709 uc002lfq.1 AK096425 NM_173629 "CCDS77190|CCDS11957" Q8N1N2 20978158 MGI:1922827 RGD:1596811 619421 HGNC:26808 "ENST00000648945.2|NM_173629.3" @@ -7277,8 +7278,8 @@ HGNC:56221 DYNAPP1 DYNAP pseudogene 1 pseudogene pseudogene Approved 18q21.2 18q HGNC:56222 DYNAPP2 DYNAP pseudogene 2 pseudogene pseudogene Approved 18q21.2 18q21.2 2022-04-13 2022-04-13 125078041 ENSG00000267428 NG_080178 HGNC:56223 DYNAPP3 DYNAP pseuodgene 3 pseudogene pseudogene Approved 18q21.2 18q21.2 2022-04-13 2022-04-13 125078044 ENSG00000288484 NG_080181 HGNC:2961 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "Dnchc1|HL-3|p22|DHC1|CMT2O" "DNECL|DNCL|DNCH1" dynein, cytoplasmic, heavy polypeptide 1 Dynein 1 complex subunits 2028 1995-11-15 2005-11-24 2016-03-02 2023-01-20 1778 ENSG00000197102 OTTHUMG00000171644 uc001yks.3 AB002323 NM_001376 CCDS9966 Q14204 "16260502|8666668" MGI:103147 RGD:2511 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 600112 284237 HGNC:2961 "ENST00000360184.10|NM_001376.5" HGNC:2961 -HGNC:2963 DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 DNCIC1 DNCI1 dynein, cytoplasmic, intermediate polypeptide 1 "WD repeat domain containing|Dynein 1 complex subunits" "362|2028" 1995-11-15 2005-11-24 2016-03-02 2023-01-20 1780 ENSG00000158560 OTTHUMG00000153983 uc003uob.4 AF063228 NM_004411 "CCDS64718|CCDS47645|CCDS64719|CCDS47646|CCDS5644" O14576 "10049579|16260502" MGI:107743 RGD:2512 603772 HGNC:2963 "ENST00000447467.6|NM_001135556.2" -HGNC:2964 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 DIC74 DNCI2 dynein, cytoplasmic, intermediate polypeptide 2 "WD repeat domain containing|Dynein 1 complex subunits" "362|2028" 1995-11-15 2005-11-24 2016-03-02 2023-01-20 1781 ENSG00000077380 OTTHUMG00000154061 uc002uhb.3 AK055491 NM_001378 "CCDS63056|CCDS82533|CCDS63057|CCDS46450|CCDS63054" Q13409 "10049579|16260502" MGI:107750 RGD:620174 603331 HGNC:2964 "ENST00000397119.8|NM_001378.3" HGNC:2964 +HGNC:2963 DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 DNCIC1 DNCI1 dynein, cytoplasmic, intermediate polypeptide 1 "WD repeat domain containing|Dynein 1 complex subunits" "362|2028" 1995-11-15 2005-11-24 2016-03-02 2023-01-20 1780 ENSG00000158560 OTTHUMG00000153983 uc003uob.4 AF063228 NM_004411 "CCDS5644|CCDS47645|CCDS47646|CCDS64718|CCDS64719" O14576 "10049579|16260502" MGI:107743 RGD:2512 603772 HGNC:2963 "ENST00000447467.6|NM_001135556.2" +HGNC:2964 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 DIC74 DNCI2 dynein, cytoplasmic, intermediate polypeptide 2 "WD repeat domain containing|Dynein 1 complex subunits" "362|2028" 1995-11-15 2005-11-24 2016-03-02 2023-01-20 1781 ENSG00000077380 OTTHUMG00000154061 uc002uhb.3 AK055491 NM_001378 "CCDS63054|CCDS82533|CCDS63057|CCDS46450|CCDS63056" Q13409 "10049579|16260502" MGI:107750 RGD:620174 603331 HGNC:2964 "ENST00000397119.8|NM_001378.3" HGNC:2964 HGNC:45012 DYNC1I2P1 dynein cytoplasmic 1 intermediate chain 2 pseudogene 1 pseudogene pseudogene Approved 10q11.23 10q11.23 2013-01-07 2016-03-02 2016-03-02 728532 ENSG00000225137 OTTHUMG00000018224 NG_022178 PGOHUM00000238794 HGNC:45012 HGNC:18745 DYNC1LI1 dynein cytoplasmic 1 light intermediate chain 1 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 DNCLI1 dynein, cytoplasmic, light intermediate polypeptide 1 Dynein 1 complex subunits 2028 2002-06-12 2005-11-25 2016-03-02 2023-01-20 51143 ENSG00000144635 OTTHUMG00000130750 uc003cfb.4 AF078849 NM_016141 "CCDS87058|CCDS2654" Q9Y6G9 16260502 MGI:2135610 RGD:71072 615890 HGNC:18745 "ENST00000273130.9|NM_016141.4" HGNC:2966 DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 DNCLI2 dynein, cytoplasmic, light intermediate polypeptide 2 Dynein 1 complex subunits 2028 1995-11-15 2005-11-25 2016-03-02 2023-01-20 1783 ENSG00000135720 OTTHUMG00000137523 uc002eqb.2 AF035812 NM_006141 "CCDS67049|CCDS10818" O43237 16260502 MGI:107738 RGD:621130 611406 HGNC:2966 "ENST00000258198.7|NM_006141.3" @@ -7298,7 +7299,7 @@ HGNC:49658 DYNLL1P7 dynein light chain LC8-type 1 pseudogene 7 pseudogene pseudo HGNC:24596 DYNLL2 dynein light chain LC8-type 2 protein-coding gene gene with protein product Approved 17q22 17q22 "MGC17810|Dlc2|DNCL1B|RSPH22" radial spoke 22 homolog (Chlamydomonas) "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal outer arm complex subunits|Dyneins, axonemal inner arm I1/f complex subunits" "2028|2029|2031|2032" 2005-11-25 2016-03-02 2023-01-20 140735 ENSG00000264364 OTTHUMG00000178783 uc010wnn.2 AF112997 NM_080677 CCDS11601 Q96FJ2 16260502 MGI:1915347 RGD:619860 608942 HGNC:24596 "ENST00000579991.3|NM_080677.3" HGNC:52833 DYNLL2-DT DYNLL2 divergent transcript non-coding RNA RNA, long non-coding Approved 17q22 17q22 Divergent transcripts 1990 2020-10-21 2020-10-21 101927666 ENSG00000266290 OTTHUMG00000179240 NR_110809 HGNC:15468 DYNLRB1 dynein light chain roadblock-type 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "DNLC2A|ROBLD1" roadblock domain containing 1 DNCL2A dynein, cytoplasmic, light polypeptide 2A "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal outer arm complex subunits|Dyneins, axonemal inner arm I1/f complex subunits" "2028|2029|2031|2032" 2001-04-25 2005-11-25 2016-03-02 2023-03-15 83658 ENSG00000125971 OTTHUMG00000032302 uc002xal.5 AF132750 NM_014183 CCDS13235 Q9NP97 "11750132|16260502" MGI:1914318 RGD:619910 607167 HGNC:15468 "ENST00000357156.7|NM_014183.4" -HGNC:15467 DYNLRB2 dynein light chain roadblock-type 2 protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "DNLC2B|ROBLD2" roadblock domain containing 2 DNCL2B dynein, cytoplasmic, light polypeptide 2B "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal outer arm complex subunits|Dyneins, axonemal inner arm I1/f complex subunits" "2028|2029|2031|2032" 2001-04-25 2005-11-25 2016-03-02 2023-01-20 83657 ENSG00000168589 OTTHUMG00000137622 uc002ffo.3 AF125108 NM_130897 "CCDS10929|CCDS76904" Q8TF09 "11750132|16260502" MGI:1922715 RGD:1306930 607168 HGNC:15467 "ENST00000305904.11|NM_130897.3" +HGNC:15467 DYNLRB2 dynein light chain roadblock-type 2 protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "DNLC2B|ROBLD2" roadblock domain containing 2 DNCL2B dynein, cytoplasmic, light polypeptide 2B "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal outer arm complex subunits|Dyneins, axonemal inner arm I1/f complex subunits" "2028|2029|2031|2032" 2001-04-25 2005-11-25 2016-03-02 2023-01-20 83657 ENSG00000168589 OTTHUMG00000137622 uc002ffo.3 AF125108 NM_130897 "CCDS76904|CCDS10929" Q8TF09 "11750132|16260502" MGI:1922715 RGD:1306930 607168 HGNC:15467 "ENST00000305904.11|NM_130897.3" HGNC:55405 DYNLRB2-AS1 DYNLRB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 Antisense RNAs 1987 2021-01-06 2021-01-06 102724084 ENSG00000259867 NR_120307 HGNC:11697 DYNLT1 dynein light chain Tctex-type 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "Tctex-1|TCTEX1" TCTEL1 t-complex-associated-testis-expressed 1-like 1 "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal outer arm complex subunits" "2028|2029|2031" 1996-03-12 2005-11-24 2016-03-02 2023-01-20 6993 ENSG00000146425 OTTHUMG00000015918 uc003qrn.3 D50663 NM_006519 CCDS5257 P63172 "8646886|16260502" "MGI:3807506|MGI:98643|MGI:3807476|MGI:3780996" RGD:620261 601554 HGNC:11697 "ENST00000367089.8|NM_006519.4" HGNC:11695 DYNLT2 dynein light chain Tctex-type 2 protein-coding gene gene with protein product Approved 6q27 06q27 "TCTEX1D3|TCTEX2|Tctex4" Tctex1 domain containing 3 TCTE3 t-complex-associated-testis-expressed 3 Dyneins, axonemal outer arm complex subunits 2031 1991-11-19 2020-08-27 2020-08-27 2023-01-20 6991 ENSG00000184786 OTTHUMG00000016068 uc003qxe.2 AF519569 NM_174910 CCDS5310 Q8IZS6 "1505969|12584439|11278908" "MGI:98642|MGI:3809205|MGI:3781595" RGD:1310947 186977 HGNC:11695 "ENST00000366774.4|NM_174910.3" @@ -7308,27 +7309,27 @@ HGNC:16571 DYNLT3P1 dynein light chain Tctex-type 3 pseudogene 1 pseudogene pseu HGNC:37081 DYNLT3P2 dynein light chain Tctex-type 3 pseudogene 2 pseudogene pseudogene Approved 2q14.3 02q14.3 2009-05-13 2016-03-02 2016-03-02 100381215 ENSG00000229758 OTTHUMG00000153544 NG_016784 PGOHUM00000240901 HGNC:37081 HGNC:32315 DYNLT4 dynein light chain Tctex-type 4 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 novel Tctex-1 family domain-containing protein TCTEX1D4 Tctex1 domain containing 4 2007-12-17 2020-09-18 2020-09-18 2023-01-20 343521 ENSG00000188396 OTTHUMG00000008586 uc057fwn.1 BC092499 NM_001013632 CCDS30699 Q5JR98 23789093 MGI:3045358 RGD:1565942 611713 HGNC:32315 "ENST00000339355.3|NM_001377534.1" HGNC:26882 DYNLT5 dynein light chain Tctex-type family member 5 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 FLJ40873 TCTEX1D1 Tctex1 domain containing 1 2005-12-01 2020-09-18 2020-10-16 2023-01-20 200132 ENSG00000152760 OTTHUMG00000009162 uc001dcv.4 AK098192 NM_152665 CCDS633 Q8N7M0 MGI:1914594 RGD:1311932 619994 HGNC:26882 "ENST00000282670.7|NM_152665.3" -HGNC:3091 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "DYRK1|DYRK|MNBH" "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A" 1999-01-29 2016-02-12 2023-01-20 1859 ENSG00000157540 OTTHUMG00000086657 uc002ywk.4 U52373 NM_001396 "CCDS42926|CCDS86987|CCDS13654|CCDS13653|CCDS42925" Q13627 9284911 MGI:1330299 RGD:2528 600855 270014 objectId:2009 HGNC:3091 "ENST00000647188.2|NM_001347721.2" HGNC:3091 -HGNC:3092 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MIRK minibrain-related kinase "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1B" MicroRNA protein coding host genes 1691 1999-01-29 2016-02-12 2023-01-20 9149 ENSG00000105204 OTTHUMG00000182584 uc002omj.3 Y17999 NM_004714 "CCDS12543|CCDS46075|CCDS12544" Q9Y463 9918863 MGI:1330302 RGD:1307223 604556 423021 objectId:2010 2.7.12.1 HGNC:3092 "ENST00000323039.10|NM_004714.3" HGNC:3092 -HGNC:3093 DYRK2 dual specificity tyrosine phosphorylation regulated kinase 2 protein-coding gene gene with protein product Approved 12q15 12q15 "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 2" 1998-10-29 2016-02-12 2023-01-20 8445 ENSG00000127334 OTTHUMG00000169089 uc001str.5 Y09216 NM_003583 "CCDS8979|CCDS8978" Q92630 9748265 MGI:1330301 RGD:1312039 603496 objectId:2011 HGNC:3093 "ENST00000344096.4|NM_006482.3" -HGNC:3094 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RED|REDK|hYAK3-2" "regulatory erythroid kinase|dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5|protein kinase Dyrk3" "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 3" 1998-10-29 2016-02-12 2023-01-20 8444 ENSG00000143479 OTTHUMG00000036339 uc001hej.4 Y12735 NM_003582 "CCDS30999|CCDS31000" O43781 9748265 MGI:1330300 RGD:1310924 603497 objectId:2012 2.7.12.1 HGNC:3094 "ENST00000367109.8|NM_003582.4" +HGNC:3091 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "DYRK1|DYRK|MNBH" "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A" 1999-01-29 2016-02-12 2023-01-20 1859 ENSG00000157540 OTTHUMG00000086657 uc002ywk.4 U52373 NM_001396 "CCDS13653|CCDS13654|CCDS86987|CCDS42926|CCDS42925" Q13627 9284911 MGI:1330299 RGD:2528 600855 270014 objectId:2009 HGNC:3091 "ENST00000647188.2|NM_001347721.2" HGNC:3091 +HGNC:3092 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MIRK minibrain-related kinase "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1B" MicroRNA protein coding host genes 1691 1999-01-29 2016-02-12 2023-01-20 9149 ENSG00000105204 OTTHUMG00000182584 uc002omj.3 Y17999 NM_004714 "CCDS12544|CCDS46075|CCDS12543" Q9Y463 9918863 MGI:1330302 RGD:1307223 604556 423021 objectId:2010 2.7.12.1 HGNC:3092 "ENST00000323039.10|NM_004714.3" HGNC:3092 +HGNC:3093 DYRK2 dual specificity tyrosine phosphorylation regulated kinase 2 protein-coding gene gene with protein product Approved 12q15 12q15 "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 2" 1998-10-29 2016-02-12 2023-01-20 8445 ENSG00000127334 OTTHUMG00000169089 uc001str.5 Y09216 NM_003583 "CCDS8978|CCDS8979" Q92630 9748265 MGI:1330301 RGD:1312039 603496 objectId:2011 HGNC:3093 "ENST00000344096.4|NM_006482.3" +HGNC:3094 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RED|REDK|hYAK3-2" "regulatory erythroid kinase|dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5|protein kinase Dyrk3" "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 3" 1998-10-29 2016-02-12 2023-01-20 8444 ENSG00000143479 OTTHUMG00000036339 uc001hej.4 Y12735 NM_003582 "CCDS31000|CCDS30999" O43781 9748265 MGI:1330300 RGD:1310924 603497 objectId:2012 2.7.12.1 HGNC:3094 "ENST00000367109.8|NM_003582.4" HGNC:40199 DYRK3-AS1 DYRK3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2019-07-25 2019-07-25 105372876 ENSG00000237605 OTTHUMG00000036345 NR_183644 HGNC:40199 -HGNC:3095 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 4" 1998-11-11 2016-02-12 2023-01-20 8798 ENSG00000010219 OTTHUMG00000168204 uc001qmx.5 Y09305 NM_001282285 "CCDS91641|CCDS8530" Q9NR20 9748265 MGI:1330292 RGD:1306800 609181 objectId:2013 HGNC:3095 "ENST00000543431.6|NM_001394779.1" -HGNC:3097 DYSF dysferlin protein-coding gene gene with protein product Approved 2p13.2 02p13.2 FER1L1 fer-1-like family member 1 LGMD2B limb girdle muscular dystrophy 2B (autosomal recessive) Ferlin family 828 1994-03-24 2013-09-12 2023-01-20 8291 ENSG00000135636 OTTHUMG00000129757 uc002sie.4 AF075575 NM_003494 "CCDS46330|CCDS46331|CCDS46329|CCDS46332|CCDS1918|CCDS46328|CCDS46327|CCDS46326|CCDS46325|CCDS46324|CCDS46323" O75923 8320700 MGI:1349385 RGD:1311023 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/DYSF|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DYSF|LRG_845|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_845.xml" 603009 121246 HGNC:3097 "ENST00000410020.8|NM_001130987.2" HGNC:3097 +HGNC:3095 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 4" 1998-11-11 2016-02-12 2023-01-20 8798 ENSG00000010219 OTTHUMG00000168204 uc001qmx.5 Y09305 NM_001282285 "CCDS8530|CCDS91641" Q9NR20 9748265 MGI:1330292 RGD:1306800 609181 objectId:2013 HGNC:3095 "ENST00000543431.6|NM_001394779.1" +HGNC:3097 DYSF dysferlin protein-coding gene gene with protein product Approved 2p13.2 02p13.2 FER1L1 fer-1-like family member 1 LGMD2B limb girdle muscular dystrophy 2B (autosomal recessive) Ferlin family 828 1994-03-24 2013-09-12 2023-01-20 8291 ENSG00000135636 OTTHUMG00000129757 uc002sie.4 AF075575 NM_003494 "CCDS46331|CCDS1918|CCDS46330|CCDS46324|CCDS46325|CCDS46327|CCDS46332|CCDS46328|CCDS46329|CCDS46323|CCDS46326" O75923 8320700 MGI:1349385 RGD:1311023 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/DYSF|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DYSF|LRG_845|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_845.xml" 603009 121246 HGNC:3097 "ENST00000410020.8|NM_001130987.2" HGNC:3097 HGNC:23279 DYTN dystrotelin protein-coding gene gene with protein product Approved 2q33.3 02q33.3 Zinc fingers ZZ-type 91 2007-01-22 2023-01-20 391475 ENSG00000232125 OTTHUMG00000154729 uc002vbr.1 ABF55377 NM_001093730 CCDS46502 A2CJ06 17233888 MGI:2685061 RGD:2320917 618510 HGNC:23279 "ENST00000452335.2|NM_001093730.1" -HGNC:15858 DZANK1 double zinc ribbon and ankyrin repeat domains 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "FLJ10600|dJ568F9.2|FLJ30892|bA189K21.8|ANKRD64" ankyrin repeat domain 64 "C20orf84|C20orf12" chromosome 20 open reading frame 12 Ankyrin repeat domain containing 403 2001-06-21 2011-10-03 2011-10-03 2023-01-20 55184 ENSG00000089091 OTTHUMG00000031968 uc002wqq.5 AK001462 NM_001099407 "CCDS93013|CCDS93014|CCDS46582|CCDS93012" Q9NVP4 MGI:2139080 RGD:1311344 HGNC:15858 "ENST00000699568.1|NM_001367614.1" +HGNC:15858 DZANK1 double zinc ribbon and ankyrin repeat domains 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "FLJ10600|dJ568F9.2|FLJ30892|bA189K21.8|ANKRD64" ankyrin repeat domain 64 "C20orf84|C20orf12" chromosome 20 open reading frame 12 Ankyrin repeat domain containing 403 2001-06-21 2011-10-03 2011-10-03 2023-01-20 55184 ENSG00000089091 OTTHUMG00000031968 uc002wqq.5 AK001462 NM_001099407 "CCDS93014|CCDS46582|CCDS93012|CCDS93013" Q9NVP4 MGI:2139080 RGD:1311344 HGNC:15858 "ENST00000699568.1|NM_001367614.1" HGNC:20908 DZIP1 DAZ interacting zinc finger protein 1 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "KIAA0996|DZIP" DAZ interacting protein 1 Zinc fingers C2H2-type 28 2003-12-09 2013-05-22 2023-01-20 22873 ENSG00000134874 OTTHUMG00000017224 uc058xua.1 AB023213 NM_014934 "CCDS9478|CCDS9477" Q86YF9 MGI:1914311 RGD:1307701 608671 HGNC:20908 "ENST00000376829.7|NM_198968.4" HGNC:20908 -HGNC:26551 DZIP1L DAZ interacting zinc finger protein 1 like protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "FLJ32844|DZIP2" "DAZ interacting protein 1-like|DAZ interacting zinc finger protein 1-like" Zinc fingers C2H2-type 28 2005-02-04 2016-01-26 2023-01-20 199221 ENSG00000158163 OTTHUMG00000159819 uc003erq.4 AK057406 NM_173543 "CCDS54645|CCDS3096" Q8IYY4 "28530676|29487109" MGI:1919757 RGD:1311430 617570 HGNC:26551 "ENST00000327532.7|NM_173543.3" HGNC:26551 +HGNC:26551 DZIP1L DAZ interacting zinc finger protein 1 like protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "FLJ32844|DZIP2" "DAZ interacting protein 1-like|DAZ interacting zinc finger protein 1-like" Zinc fingers C2H2-type 28 2005-02-04 2016-01-26 2023-01-20 199221 ENSG00000158163 OTTHUMG00000159819 uc003erq.4 AK057406 NM_173543 "CCDS3096|CCDS54645" Q8IYY4 "28530676|29487109" MGI:1919757 RGD:1311430 617570 HGNC:26551 "ENST00000327532.7|NM_173543.3" HGNC:26551 HGNC:30938 DZIP3 DAZ interacting zinc finger protein 3 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "hRUL138|PPP1R66" "human RNA-binding ubiquitin ligase of 138 kDa|protein phosphatase 1, regulatory subunit 66" DAZ interacting protein 3, zinc finger "Ring finger proteins|Protein phosphatase 1 regulatory subunits" "58|694" 2007-08-20 2013-05-22 2023-01-20 9666 ENSG00000198919 OTTHUMG00000159232 uc003dxd.4 AF279370 NM_014648 CCDS2952 Q86Y13 "9734811|12538761" MGI:1917433 RGD:1563278 608672 HGNC:30938 "ENST00000361582.8|NM_014648.4" HGNC:3113 E2F1 E2F transcription factor 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 RBP3 RBBP3 retinoblastoma-binding protein 3 (E2F-like) E2F transcription factors 982 1993-06-29 2023-01-20 1869 ENSG00000101412 OTTHUMG00000032265 uc002wzu.5 NM_005225 CCDS13224 Q01094 8964493 MGI:101941 RGD:728892 189971 HGNC:3113 "ENST00000343380.6|NM_005225.3" HGNC:3114 E2F2 E2F transcription factor 2 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 E2F-2 E2F transcription factors 982 1994-08-31 2023-01-20 1870 ENSG00000007968 OTTHUMG00000003223 uc001bhe.3 L22846 NM_004091 CCDS236 Q14209 "8246995|8246996" MGI:1096341 RGD:1593939 600426 HGNC:3114 "ENST00000361729.3|NM_004091.4" -HGNC:3115 E2F3 E2F transcription factor 3 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 E2F transcription factors 982 1994-08-31 2023-01-20 1871 ENSG00000112242 OTTHUMG00000016389 uc003nda.3 Y10479 NM_001243076 "CCDS58999|CCDS4545" O00716 8246996 MGI:1096340 RGD:1561600 600427 HGNC:3115 "ENST00000346618.8|NM_001949.5" +HGNC:3115 E2F3 E2F transcription factor 3 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 E2F transcription factors 982 1994-08-31 2023-01-20 1871 ENSG00000112242 OTTHUMG00000016389 uc003nda.3 Y10479 NM_001243076 "CCDS4545|CCDS58999" O00716 8246996 MGI:1096340 RGD:1561600 600427 HGNC:3115 "ENST00000346618.8|NM_001949.5" HGNC:41329 E2F3-IT1 E2F3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 RBAT1 retinoblastoma associated transcript-1 E2F3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2022-12-12 100874268 ENSG00000224707 OTTHUMG00000014337 uc063mco.1 NR_046776 32669100 E2F3-IT1 HGNC:3116 E2F3P1 E2F transcription factor 3 pseudogene 1 pseudogene pseudogene Approved 17q12 17q12 1994-08-31 2014-11-28 1872 ENSG00000267046 OTTHUMG00000179902 NG_005634 8246996 PGOHUM00000294398 HGNC:3116 HGNC:3117 E2F3P2 E2F transcription factor 3 pseudogene 2 pseudogene pseudogene Approved 2q32.3 02q32.3 1994-08-31 2020-04-20 100420003 ENSG00000203435 OTTHUMG00000154439 NG_023648 8246996 PGOHUM00000298271 HGNC:3117 HGNC:3118 E2F4 E2F transcription factor 4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 E2F-4 E2F transcription factor 4, p107/p130-binding E2F transcription factors 982 1995-02-01 2016-01-18 2023-01-20 1874 ENSG00000205250 OTTHUMG00000172975 uc002erz.4 BC021050 NM_001950 CCDS32464 Q16254 "7958924|7892279" MGI:103012 RGD:2322129 600659 HGNC:3118 "ENST00000379378.8|NM_001950.4" HGNC:38684 E2F4P1 E2F transcription factor 4 pseudogene 1 pseudogene pseudogene Approved 6p21.2 06p21.2 2010-07-20 2016-01-18 2016-01-18 100131899 ENSG00000231276 OTTHUMG00000014650 NG_022354 PGOHUM00000243616 HGNC:38684 -HGNC:3119 E2F5 E2F transcription factor 5 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 E2F transcription factor 5, p130-binding E2F transcription factors 982 1995-09-06 2016-01-18 2023-01-20 1875 ENSG00000133740 OTTHUMG00000164785 uc003yda.6 X86097 NM_001951 "CCDS47886|CCDS47885|CCDS55254" Q15329 7892279 MGI:105091 RGD:621357 600967 HGNC:3119 "ENST00000416274.7|NM_001951.4" +HGNC:3119 E2F5 E2F transcription factor 5 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 E2F transcription factor 5, p130-binding E2F transcription factors 982 1995-09-06 2016-01-18 2023-01-20 1875 ENSG00000133740 OTTHUMG00000164785 uc003yda.6 X86097 NM_001951 "CCDS55254|CCDS47885|CCDS47886" Q15329 7892279 MGI:105091 RGD:621357 600967 HGNC:3119 "ENST00000416274.7|NM_001951.4" HGNC:55393 E2F5-DT E2F5 divergent transcript non-coding RNA RNA, long non-coding Approved 8q21.2 08q21.2 Divergent transcripts 1990 2020-12-21 2020-12-21 102723322 ENSG00000260493 NR_134311 HGNC:3120 E2F6 E2F transcription factor 6 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 E2F-6 E2F transcription factors 982 1998-04-07 2023-01-20 1876 ENSG00000169016 OTTHUMG00000090565 uc002rbh.5 AF041381 NM_001952 "CCDS62858|CCDS1680|CCDS62859" O75461 9501179 MGI:1354159 RGD:631412 602944 HGNC:3120 "ENST00000381525.8|NM_198256.4" HGNC:51449 E2F6P1 E2F transcription factor 6 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 E2F6 pseudogene 1 2014-11-28 2015-04-07 2015-04-07 386610 ENSG00000234764 OTTHUMG00000150178 NG_003106 PGOHUM00000297629 HGNC:51449 @@ -7337,7 +7338,7 @@ HGNC:51451 E2F6P3 E2F transcription factor 6 pseudogene 3 pseudogene pseudogene HGNC:51452 E2F6P4 E2F transcription factor 6 pseudogene 4 pseudogene pseudogene Approved Xq26.3 Xq26.3 E2F6 pseudogene 4 2014-11-28 2015-04-07 2015-04-07 139542 ENSG00000231513 OTTHUMG00000022502 NG_006865 PGOHUM00000304873 HGNC:51452 HGNC:23820 E2F7 E2F transcription factor 7 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 E2F transcription factors 982 2003-12-11 2023-01-20 144455 ENSG00000165891 OTTHUMG00000169969 uc001sym.5 BC016658 NM_203394 CCDS9016 Q96AV8 12893818 MGI:1289147 RGD:1310258 612046 HGNC:23820 "ENST00000322886.12|NM_203394.3" HGNC:24727 E2F8 E2F transcription factor 8 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 FLJ23311 E2F transcription factors 982 2005-09-10 2023-01-20 79733 ENSG00000129173 OTTHUMG00000166102 uc001mpn.6 NM_024680 CCDS7849 A0AVK6 15722552 MGI:1922038 RGD:1308091 612047 HGNC:24727 "ENST00000250024.9|NM_024680.4" -HGNC:3121 E4F1 E4F transcription factor 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 E4F Zinc fingers C2H2-type 28 1996-04-12 2023-01-20 1877 ENSG00000167967 OTTHUMG00000177084 uc002cpm.5 U87269 NM_004424 "CCDS73810|CCDS73809|CCDS32370" Q66K89 "8828041|9530632|9763670" MGI:109530 RGD:1596731 603022 HGNC:3121 "ENST00000301727.9|NM_004424.5" +HGNC:3121 E4F1 E4F transcription factor 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 E4F Zinc fingers C2H2-type 28 1996-04-12 2023-01-20 1877 ENSG00000167967 OTTHUMG00000177084 uc002cpm.5 U87269 NM_004424 "CCDS73810|CCDS32370|CCDS73809" Q66K89 "8828041|9530632|9763670" MGI:109530 RGD:1596731 603022 HGNC:3121 "ENST00000301727.9|NM_004424.5" HGNC:20907 EAF1 ELL associated factor 1 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 2003-09-17 2023-01-20 85403 ENSG00000144597 OTTHUMG00000162544 uc003bzu.4 AF272973 NM_033083 CCDS2626 Q96JC9 11418481 MGI:1921677 RGD:1310057 608315 HGNC:20907 "ENST00000396842.7|NM_033083.7" HGNC:42328 EAF1-AS1 EAF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 EAF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-10 2012-08-15 2014-11-19 100873956 ENSG00000249786 OTTHUMG00000129858 uc062hcx.1 EAF1-AS1 HGNC:23115 EAF2 ELL associated factor 2 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "BM040|TRAITS|U19" 2003-09-17 2023-01-20 55840 ENSG00000145088 OTTHUMG00000159424 uc003een.4 AF517829 NM_018456 CCDS3006 Q96CJ1 "12446457|12907652" MGI:2146616 RGD:628879 607659 HGNC:23115 "ENST00000273668.7|NM_018456.6" @@ -7347,36 +7348,36 @@ HGNC:3123 EBAG9 estrogen receptor binding site associated antigen 9 protein-codi HGNC:45233 EBAG9P1 EBAG9 pseudogene 1 pseudogene pseudogene Approved 10q24.2 10q24.2 estrogen receptor binding site associated, antigen, 9 pseudogene 1 2013-03-07 2019-01-21 2019-01-21 100422254 ENSG00000233690 OTTHUMG00000018890 NG_025459 PGOHUM00000257784 HGNC:45233 HGNC:3126 EBF1 EBF transcription factor 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "OLF1|COE1" EBF "early B-cell factor|early B cell factor 1" "Early B-cell factors|IPT domain containing" "1646|1752" 1995-11-23 2006-09-26 2018-09-21 2023-01-20 1879 ENSG00000164330 OTTHUMG00000130304 uc010jip.4 AF208502 NM_024007 "CCDS78081|CCDS4343" Q9UH73 "8012110|10942392" MGI:95275 RGD:620953 EBF1 164343 HGNC:3126 "ENST00000313708.11|NM_024007.5" HGNC:19090 EBF2 EBF transcription factor 2 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "FLJ11500|COE2" Collier, Olf and EBF transcription factor 2 early B cell factor 2 "Early B-cell factors|IPT domain containing" "1646|1752" 2002-08-09 2018-09-21 2023-01-20 64641 ENSG00000221818 OTTHUMG00000163838 uc003xes.3 "AK021562|AK001144" NM_022659 CCDS43726 Q9HAK2 9151732 MGI:894332 RGD:1310805 609934 HGNC:19090 "ENST00000520164.6|NM_022659.4" -HGNC:19087 EBF3 EBF transcription factor 3 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "COE3|DKFZp667B0210" Transcription factor COE3 early B cell factor 3 "Early B-cell factors|MicroRNA protein coding host genes|IPT domain containing" "1646|1691|1752" 2002-11-11 2018-09-21 2023-01-20 253738 ENSG00000108001 OTTHUMG00000019265 uc001lki.3 NM_001005463 "CCDS91376|CCDS91377|CCDS31314" Q9H4W6 "12355068|28017370|28017372|28017373" MGI:894289 RGD:1304956 607407 HGNC:19087 "ENST00000440978.2|NM_001375380.1" HGNC:19087 +HGNC:19087 EBF3 EBF transcription factor 3 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "COE3|DKFZp667B0210" Transcription factor COE3 early B cell factor 3 "Early B-cell factors|MicroRNA protein coding host genes|IPT domain containing" "1646|1691|1752" 2002-11-11 2018-09-21 2023-01-20 253738 ENSG00000108001 OTTHUMG00000019265 uc001lki.3 NM_001005463 "CCDS31314|CCDS91376|CCDS91377" Q9H4W6 "12355068|28017370|28017372|28017373" MGI:894289 RGD:1304956 607407 HGNC:19087 "ENST00000440978.2|NM_001375380.1" HGNC:19087 HGNC:56218 EBF3-AS1 EBF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Antisense RNAs 1987 2022-03-24 2022-03-24 105378558 ENSG00000287997 XR_946466 HGNC:29278 EBF4 EBF family member 4 protein-coding gene gene with protein product Approved 20p13 20p13 "KIAA1442|COE4|RP5-860F19.3|O/E-4" early B cell factor 4 "Early B-cell factors|IPT domain containing" "1646|1752" 2007-06-07 2018-09-21 2023-01-20 57593 ENSG00000088881 OTTHUMG00000031709 uc002wgt.5 BC019106 NM_001110514 CCDS93003 Q9BQW3 10718198 MGI:2385972 RGD:1588215 609935 HGNC:29278 "ENST00000609451.6|NM_001395167.1" HGNC:3129 EBI3 Epstein-Barr virus induced 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "IL27B|IL35B" "IL27 subunit|IL35 subunit" "Fibronectin type III domain containing|Minor histocompatibility antigens" "555|870" 2000-05-02 2008-09-12 2023-01-20 10148 ENSG00000105246 OTTHUMG00000181866 uc002lzu.4 L08187 NM_005755 CCDS12123 Q14213 8551575 MGI:1354171 RGD:1589467 605816 ligandId:6153 HGNC:3129 "ENST00000221847.6|NM_005755.3" HGNC:39430 EBLN1 endogenous Bornavirus like nucleoprotein 1 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 endogenous Borna-like N element 1 2011-06-03 2017-06-13 2023-01-20 340900 ENSG00000223601 OTTHUMG00000017801 uc021pob.2 AA813437 NM_001199938 CCDS60498 P0CF75 "20054395|20686665" RGD:41393922 613249 HGNC:39430 "ENST00000422359.3|NM_001394757.1" HGNC:25493 EBLN2 endogenous Bornavirus like nucleoprotein 2 protein-coding gene gene with protein product Approved 3p13 03p13 endogenous Borna-like N element 2 2011-06-03 2017-06-13 2023-01-20 55096 ENSG00000255423 OTTHUMG00000165897 uc003dpj.4 NM_018029 CCDS54608 Q6P2I7 "20054395|20686665" 613250 HGNC:25493 "ENST00000533473.1|NM_018029.4" HGNC:50682 EBLN3P endogenous Bornavirus like nucleoprotein 3, pseudogene pseudogene pseudogene Approved 9p13.2 09p13.2 LOC100506710 EBLN3 endogenous Bornavirus-like nucleoprotein 3 2014-06-05 2016-07-19 2019-02-18 2019-02-18 100506710 ENSG00000281649 OTTHUMG00000019910 NR_036592 27980086 PGOHUM00000304173 HGNC:50682 -HGNC:15531 EBNA1BP2 EBNA1 binding protein 2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "NOBP|EBP2|P40" EBNA1-binding protein 2 MicroRNA protein coding host genes 1691 2001-10-16 2001-11-28 2023-01-20 10969 ENSG00000117395 OTTHUMG00000007284 uc001cin.4 U86602 NM_001159936 "CCDS53308|CCDS478" Q99848 "10074103|11438656" MGI:1916322 RGD:1305762 614443 HGNC:15531 "ENST00000236051.3|NM_006824.3" +HGNC:15531 EBNA1BP2 EBNA1 binding protein 2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "NOBP|EBP2|P40" EBNA1-binding protein 2 MicroRNA protein coding host genes 1691 2001-10-16 2001-11-28 2023-01-20 10969 ENSG00000117395 OTTHUMG00000007284 uc001cin.4 U86602 NM_001159936 "CCDS478|CCDS53308" Q99848 "10074103|11438656" MGI:1916322 RGD:1305762 614443 HGNC:15531 "ENST00000236051.3|NM_006824.3" HGNC:3133 EBP EBP cholestenol delta-isomerase protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "CPX|CPXD|CHO2" "3-beta-hydroxysteroid-delta-8,delta-7-isomerase|Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)|sterol 8-isomerase" CDPX2 "emopamil-binding protein (sterol isomerase)|emopamil binding protein (sterol isomerase)" 2000-02-21 2019-01-21 2023-01-20 10682 ENSG00000147155 OTTHUMG00000034482 uc004djx.5 Z37986 NM_006579 CCDS14300 Q15125 "7706302|8938429" MGI:107822 RGD:620957 300205 121250 5.3.3.5 HGNC:3133 "ENST00000495186.6|NM_006579.3" HGNC:3133 HGNC:18061 EBPL EBP like protein-coding gene gene with protein product Approved 13q14.2 13q14.2 EBRP "emopamil binding protein-like|emopamil binding protein like" 2004-04-16 2018-05-10 2023-01-20 84650 ENSG00000123179 OTTHUMG00000016920 uc001vdg.5 AF243433 NM_032565 "CCDS61334|CCDS9420" Q9BY08 MGI:1915427 RGD:1304571 617335 HGNC:18061 "ENST00000242827.11|NM_032565.5" HGNC:3142 EBVM1 Epstein Barr virus modification site 1 other region Approved 11q23.1 11q23.1 2001-06-22 2020-01-30 "2843323|14526168|1327661" HGNC:3143 EBVS1 Epstein Barr virus integration site 1 other virus integration site Approved 1p35 01p35 Epstein Barr virus insertion site 1 1988-07-29 2010-06-17 2010-06-17 1888 K02579 6095452 132850 -HGNC:17029 ECD ecdysoneless cell cycle regulator protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "hSGT1|GCR2" ecdysoneless homolog (Drosophila) 2006-02-06 2016-01-15 2023-01-20 11319 ENSG00000122882 OTTHUMG00000018451 uc001jtn.4 BC000721 NM_007265 "CCDS44434|CCDS44433|CCDS7321" O95905 "9928932|15128659" MGI:1917851 RGD:1565023 616464 HGNC:17029 "ENST00000372979.9|NM_007265.3" -HGNC:3146 ECE1 endothelin converting enzyme 1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 ECE M13 metallopeptidases 1439 1995-12-08 2023-01-20 1889 ENSG00000117298 OTTHUMG00000002625 uc001bek.3 D49471 NM_001397 "CCDS44081|CCDS44082|CCDS44083|CCDS215" P42892 "7805846|7864876|17592116" MGI:1101357 RGD:620293 600423 121255 M13.002 objectId:1615 HGNC:3146 "ENST00000374893.11|NM_001397.3" HGNC:3146 +HGNC:17029 ECD ecdysoneless cell cycle regulator protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "hSGT1|GCR2" ecdysoneless homolog (Drosophila) 2006-02-06 2016-01-15 2023-01-20 11319 ENSG00000122882 OTTHUMG00000018451 uc001jtn.4 BC000721 NM_007265 "CCDS44433|CCDS7321|CCDS44434" O95905 "9928932|15128659" MGI:1917851 RGD:1565023 616464 HGNC:17029 "ENST00000372979.9|NM_007265.3" +HGNC:3146 ECE1 endothelin converting enzyme 1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 ECE M13 metallopeptidases 1439 1995-12-08 2023-01-20 1889 ENSG00000117298 OTTHUMG00000002625 uc001bek.3 D49471 NM_001397 "CCDS44082|CCDS215|CCDS44083|CCDS44081" P42892 "7805846|7864876|17592116" MGI:1101357 RGD:620293 600423 121255 M13.002 objectId:1615 HGNC:3146 "ENST00000374893.11|NM_001397.3" HGNC:3146 HGNC:40203 ECE1-AS1 ECE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 Antisense RNAs 1987 2019-07-25 2019-07-25 100506801 ENSG00000231105 OTTHUMG00000002777 NR_038404 HGNC:40203 -HGNC:13275 ECE2 endothelin converting enzyme 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "KIAA0604|MGC2408" M13 metallopeptidases 1439 2003-09-03 2023-01-20 9718 ENSG00000145194 OTTHUMG00000150551 uc003fni.5 AF428263 NM_001100120 "CCDS46969|CCDS33899|CCDS43179" P0DPD6 11718899 MGI:1101356 610145 M13.003 objectId:1616 HGNC:13275 "ENST00000404464.8|NM_001100121.2" HGNC:13275 +HGNC:13275 ECE2 endothelin converting enzyme 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "KIAA0604|MGC2408" M13 metallopeptidases 1439 2003-09-03 2023-01-20 9718 ENSG00000145194 OTTHUMG00000150551 uc003fni.5 AF428263 NM_001100120 "CCDS33899|CCDS46969|CCDS43179" P0DPD6 11718899 MGI:1101356 610145 M13.003 objectId:1616 HGNC:13275 "ENST00000404464.8|NM_001100121.2" HGNC:13275 HGNC:3147 ECEL1 endothelin converting enzyme like 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "XCE|DINE" damage induced neuronal endopeptidase M13 metallopeptidases 1439 1999-04-22 2016-05-27 2023-01-20 9427 ENSG00000171551 OTTHUMG00000133262 uc002vsv.3 Y16187 NM_004826 "CCDS77540|CCDS2493" O95672 "9931490|11352565" MGI:1343461 RGD:61806 605896 323407 M13.007 HGNC:3147 "ENST00000304546.6|NM_004826.4" HGNC:3147 HGNC:14017 ECEL1P1 endothelin converting enzyme like 1 pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 2002-08-30 2016-06-07 2020-04-20 100131546 ENSG00000204121 OTTHUMG00000153336 NG_028777 11352565 PGOHUM00000298352 HGNC:14017 HGNC:14019 ECEL1P2 endothelin converting enzyme like 1 pseudogene 2 pseudogene pseudogene Approved 2q37.1 02q37.1 ECEL2 2002-08-30 2016-06-07 2016-06-07 347694 ENSG00000244280 OTTHUMG00000153343 BC067110 NR_028501 "11352565|10698686" PGOHUM00000298351 HGNC:14019 HGNC:14018 ECEL1P3 endothelin converting enzyme like 1 pseudogene 3 pseudogene pseudogene Approved 2q37.1 02q37.1 2002-08-30 2016-06-07 2016-06-07 260332 ENSG00000230122 OTTHUMG00000153353 NG_002700 11352565 PGOHUM00000298350 HGNC:14018 HGNC:3149 ECH1 enoyl-CoA hydratase 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HPXEL "delta3,5-delta2,4-dienoyl-coenzyme A isomerase|peroxisomal enoyl-CoA hydratase 1" "enoyl Coenzyme A hydratase 1, peroxisomal|enoyl-CoA hydratase 1, peroxisomal" 1995-04-26 2016-06-30 2023-01-20 1891 ENSG00000104823 OTTHUMG00000182609 uc002oji.4 U16660 NM_001398 CCDS33014 Q13011 7558027 MGI:1858208 RGD:69353 600696 HGNC:3149 "ENST00000221418.9|NM_001398.3" -HGNC:21489 ECHDC1 ethylmalonyl-CoA decarboxylase 1 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 dJ351K20.2 "enoyl Coenzyme A hydratase domain containing 1|enoyl CoA hydratase domain containing 1" 2003-11-26 2014-11-18 2023-01-20 55862 ENSG00000093144 OTTHUMG00000015523 uc003qaz.5 AK025796 NM_001002030 "CCDS43504|CCDS47471|CCDS34530|CCDS47472|CCDS55054" Q9NTX5 22016388 MGI:1277169 RGD:1359654 612136 4.1.1.94 HGNC:21489 "ENST00000454859.8|NM_001002030.2" -HGNC:23408 ECHDC2 enoyl-CoA hydratase domain containing 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ10948 enoyl Coenzyme A hydratase domain containing 2 2005-01-12 2015-11-11 2023-01-20 55268 ENSG00000121310 OTTHUMG00000008927 uc001cup.5 AF258590 NM_018281 "CCDS571|CCDS72794|CCDS55600" Q86YB7 MGI:1289238 RGD:1308525 HGNC:23408 "ENST00000371522.9|NM_001198961.2" +HGNC:21489 ECHDC1 ethylmalonyl-CoA decarboxylase 1 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 dJ351K20.2 "enoyl Coenzyme A hydratase domain containing 1|enoyl CoA hydratase domain containing 1" 2003-11-26 2014-11-18 2023-01-20 55862 ENSG00000093144 OTTHUMG00000015523 uc003qaz.5 AK025796 NM_001002030 "CCDS34530|CCDS43504|CCDS47472|CCDS47471|CCDS55054" Q9NTX5 22016388 MGI:1277169 RGD:1359654 612136 4.1.1.94 HGNC:21489 "ENST00000454859.8|NM_001002030.2" +HGNC:23408 ECHDC2 enoyl-CoA hydratase domain containing 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ10948 enoyl Coenzyme A hydratase domain containing 2 2005-01-12 2015-11-11 2023-01-20 55268 ENSG00000121310 OTTHUMG00000008927 uc001cup.5 AF258590 NM_018281 "CCDS72794|CCDS571|CCDS55600" Q86YB7 MGI:1289238 RGD:1308525 HGNC:23408 "ENST00000371522.9|NM_001198961.2" HGNC:23489 ECHDC3 enoyl-CoA hydratase domain containing 3 protein-coding gene gene with protein product Approved 10p14 10p14 FLJ20909 enoyl Coenzyme A hydratase domain containing 3 2003-11-20 2015-11-11 2023-01-20 79746 ENSG00000134463 OTTHUMG00000017675 uc001ikw.5 AF275677 NM_024693 CCDS7084 Q96DC8 27586541 MGI:1915106 RGD:1589147 HGNC:23489 "ENST00000379215.9|NM_024693.5" HGNC:3151 ECHS1 enoyl-CoA hydratase, short chain 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 SCEH short chain enoyl-CoA hydratase "enoyl Coenzyme A hydratase, short chain, 1, mitochondrial|enoyl-CoA hydratase, short chain, 1, mitochondrial" MicroRNA protein coding host genes 1691 1996-12-17 2016-06-30 2023-01-20 1892 ENSG00000127884 OTTHUMG00000019320 uc001lmu.4 NM_004092 CCDS7681 P30084 "8012501|25393721" MGI:2136460 RGD:69330 602292 426564 4.2.1.17 HGNC:3151 "ENST00000368547.4|NM_004092.4" HGNC:3151 HGNC:2703 ECI1 enoyl-CoA delta isomerase 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 3,2 trans-enoyl-CoA isomerase DCI "dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)|dodecenoyl-CoA isomerase" 1994-02-23 2011-03-15 2011-03-15 2023-01-20 1632 ENSG00000167969 OTTHUMG00000128830 uc002cpr.4 NM_001178029 "CCDS58410|CCDS10464" P42126 7829074 MGI:94871 RGD:61892 600305 5.3.3.8 HGNC:2703 "ENST00000301729.9|NM_001919.4" HGNC:56088 ECI1-AS1 ECI1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2021-12-20 2021-12-20 123706507 ENSG00000261663 -HGNC:14601 ECI2 enoyl-CoA delta isomerase 2 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "ACBD2|DRS1|HCA88" "acyl-Coenzyme A binding domain containing 2|Hepatocellular carcinoma-associated antigen 88" PECI peroxisomal D3,D2-enoyl-CoA isomerase 2001-07-17 2011-03-15 2011-03-15 2023-01-20 10455 ENSG00000198721 OTTHUMG00000014158 uc003mwf.4 AF069301 NM_006117 "CCDS43420|CCDS4490" O75521 10419495 MGI:1346064 RGD:1359427 608024 HGNC:14601 "ENST00000380118.8|NM_206836.3" +HGNC:14601 ECI2 enoyl-CoA delta isomerase 2 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "ACBD2|DRS1|HCA88" "acyl-Coenzyme A binding domain containing 2|Hepatocellular carcinoma-associated antigen 88" PECI peroxisomal D3,D2-enoyl-CoA isomerase 2001-07-17 2011-03-15 2011-03-15 2023-01-20 10455 ENSG00000198721 OTTHUMG00000014158 uc003mwf.4 AF069301 NM_006117 "CCDS4490|CCDS43420" O75521 10419495 MGI:1346064 RGD:1359427 608024 HGNC:14601 "ENST00000380118.8|NM_206836.3" HGNC:54425 ECI2-DT ECI2 divergent transcript non-coding RNA RNA, long non-coding Approved 6p25.2 06p25.2 Divergent transcripts 1990 2019-07-25 2019-07-25 100507506 ENSG00000234817 NR_103764 HGNC:54425 -HGNC:3153 ECM1 extracellular matrix protein 1 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 1996-09-19 2023-01-20 1893 ENSG00000143369 OTTHUMG00000012806 uc001eus.4 U68186 NM_004425 "CCDS55632|CCDS954|CCDS953" Q16610 "9367673|9501329" MGI:103060 RGD:620357 602201 121261 HGNC:3153 "ENST00000369047.9|NM_004425.4" HGNC:3153 +HGNC:3153 ECM1 extracellular matrix protein 1 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 1996-09-19 2023-01-20 1893 ENSG00000143369 OTTHUMG00000012806 uc001eus.4 U68186 NM_004425 "CCDS55632|CCDS953|CCDS954" Q16610 "9367673|9501329" MGI:103060 RGD:620357 602201 121261 HGNC:3153 "ENST00000369047.9|NM_004425.4" HGNC:3153 HGNC:49736 ECM1P1 extracellular matrix protein 1 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 2014-02-13 2014-02-13 100420354 ENSG00000270639 OTTHUMG00000184620 NG_023776 PGOHUM00000235947 HGNC:49736 HGNC:49737 ECM1P2 extracellular matrix protein 1 pseudogene 2 pseudogene pseudogene Approved 4p15.33 04p15.33 2014-02-13 2014-02-13 106481698 ENSG00000249995 OTTHUMG00000160087 NG_043188 PGOHUM00000245853 HGNC:49737 HGNC:3154 ECM2 extracellular matrix protein 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 matrix glycoprotein SC1/ECM2 extracellular matrix protein 2, female organ and adipocyte specific 1998-03-25 2016-03-15 2023-01-20 1842 ENSG00000106823 OTTHUMG00000020226 uc011lty.3 AB011792 NM_001393 "CCDS6698|CCDS56578" O94769 9790758 MGI:3039578 RGD:2320282 603479 HGNC:3154 "ENST00000344604.10|NM_001393.4" @@ -7384,11 +7385,11 @@ HGNC:55152 ECMXP extracellular matrix protein X-linked, pseudogene pseudogene ps HGNC:29020 ECPAS Ecm29 proteasome adaptor and scaffold protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "FLJ22036|ECM29" ECM29 homolog (S. cerevisiae) KIAA0368 "KIAA0368|Ecm29 proteasome adaptor and scaffold" 2004-01-27 2017-12-15 2017-12-15 2023-03-15 23392 ENSG00000136813 OTTHUMG00000020489 uc004bfe.1 AK025689 NM_001080398 "CCDS87673|CCDS94456" Q5VYK3 "15496406|20682791|26802743" MGI:2140220 RGD:1306148 616694 HGNC:29020 "ENST00000684092.1|NM_001364929.1" HGNC:24642 ECRG4 ECRG4 augurin precursor protein-coding gene gene with protein product Approved 2q12.2 02q12.2 augurin esophageal cancer related gene 4 protein C2orf40 chromosome 2 open reading frame 40 2006-07-31 2019-04-18 2019-04-18 2023-01-20 84417 ENSG00000119147 OTTHUMG00000130921 uc010fjf.4 BC021742 NM_032411 CCDS2072 Q9H1Z8 12800218 MGI:1926146 RGD:1305645 611752 HGNC:24642 "ENST00000238044.8|NM_032411.3" HGNC:35454 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "ECSM2|ARIA" "endothelial cell-specific molecule 2|apoptosis regulator through modulating IAP expression" endothelial cell-specific chemotaxis regulator 2009-02-12 2012-03-21 2023-01-20 641700 ENSG00000249751 OTTHUMG00000163240 uc032vne.2 DQ462572 NM_001077693 CCDS75317 Q19T08 18556573 MGI:1915795 RGD:1594804 615736 HGNC:35454 "ENST00000618155.3|NM_001077693.4" -HGNC:29548 ECSIT ECSIT signaling integrator protein-coding gene gene with protein product Approved 19p13.2 19p13.2 SITPEC signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse) "ECSIT homolog (Drosophila)|ECSIT signalling integrator" Mitochondrial complex I assembly complex 1387 2006-08-08 2019-09-11 2023-01-20 51295 ENSG00000130159 OTTHUMG00000178590 uc002msb.4 BC005119 NM_016581 "CCDS45979|CCDS59353|CCDS12262|CCDS45980" Q9BQ95 "10465784|22982022" MGI:1349469 RGD:1359488 608388 470254 HGNC:29548 "ENST00000270517.12|NM_016581.5" +HGNC:29548 ECSIT ECSIT signaling integrator protein-coding gene gene with protein product Approved 19p13.2 19p13.2 SITPEC signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse) "ECSIT homolog (Drosophila)|ECSIT signalling integrator" Mitochondrial complex I assembly complex 1387 2006-08-08 2019-09-11 2023-01-20 51295 ENSG00000130159 OTTHUMG00000178590 uc002msb.4 BC005119 NM_016581 "CCDS45979|CCDS45980|CCDS12262|CCDS59353" Q9BQ95 "10465784|22982022" MGI:1349469 RGD:1359488 608388 470254 HGNC:29548 "ENST00000270517.12|NM_016581.5" HGNC:3155 ECT2 epithelial cell transforming 2 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 ARHGEF31 epithelial cell transforming sequence 2 oncogene Dbl family Rho GEFs 722 1993-10-15 2014-03-11 2023-01-20 1894 ENSG00000114346 OTTHUMG00000156762 uc003fii.4 AA206473 NM_018098 "CCDS87168|CCDS3220|CCDS58860" Q9H8V3 "8464478|10579713" MGI:95281 RGD:1308524 600586 HGNC:3155 "ENST00000392692.8|NM_001258315.2" HGNC:21118 ECT2L epithelial cell transforming 2 like protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "ARHGEF32|FBXO49|LFDH" "lung specific F-box and DH domain containing protein|F-box protein 49" C6orf91 "chromosome 6 open reading frame 91|epithelial cell transforming sequence 2 oncogene-like" "F-boxes other|Dbl family Rho GEFs" "560|722" 2003-11-26 2014-03-11 2023-01-20 345930 ENSG00000203734 OTTHUMG00000015679 uc063rvm.1 NM_001077706 CCDS43508 Q008S8 MGI:3641723 RGD:9246970 HGNC:21118 "ENST00000541398.7|NM_001077706.3" -HGNC:3157 EDA ectodysplasin A protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "EDA1|XLHED|HED|XHED|ED1-A1|ED1-A2|EDA-A1|EDA-A2" "ED1|EDA2|ODT1" "ectodermal dysplasia 1, anhidrotic|oligodontia 1" "Tumor necrosis factor superfamily|MicroRNA protein coding host genes" "781|1691" 2001-06-22 2004-08-12 2004-08-09 2023-01-20 1896 ENSG00000158813 OTTHUMG00000021764 uc004dxr.4 U59227 NM_001399 "CCDS14394|CCDS35319|CCDS55436|CCDS43966|CCDS35318" Q92838 "8696334|18657636|16583127" MGI:1195272 RGD:1563178 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDA 300451 121263 ligandId:6144 HGNC:3157 "ENST00000374552.9|NM_001399.5" HGNC:3157 -HGNC:17756 EDA2R ectodysplasin A2 receptor protein-coding gene gene with protein product Approved Xq12 Xq12 "XEDAR|EDA-A2R|EDAA2R|TNFRSF27" X-linked EDA receptor Tumor necrosis factor receptor superfamily 782 2004-08-17 2023-01-20 60401 ENSG00000131080 OTTHUMG00000021736 uc004dwq.4 AF298812 NM_021783 "CCDS56603|CCDS14386" Q9HAV5 11039935 MGI:2442860 RGD:1564025 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDA2R 300276 325286 objectId:1896 HGNC:17756 "ENST00000374719.8|NM_021783.5" HGNC:17756 +HGNC:3157 EDA ectodysplasin A protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "EDA1|XLHED|HED|XHED|ED1-A1|ED1-A2|EDA-A1|EDA-A2" "ED1|EDA2|ODT1" "ectodermal dysplasia 1, anhidrotic|oligodontia 1" "Tumor necrosis factor superfamily|MicroRNA protein coding host genes" "781|1691" 2001-06-22 2004-08-12 2004-08-09 2023-01-20 1896 ENSG00000158813 OTTHUMG00000021764 uc004dxr.4 U59227 NM_001399 "CCDS35318|CCDS55436|CCDS43966|CCDS35319|CCDS14394" Q92838 "8696334|18657636|16583127" MGI:1195272 RGD:1563178 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDA 300451 121263 ligandId:6144 HGNC:3157 "ENST00000374552.9|NM_001399.5" HGNC:3157 +HGNC:17756 EDA2R ectodysplasin A2 receptor protein-coding gene gene with protein product Approved Xq12 Xq12 "XEDAR|EDA-A2R|EDAA2R|TNFRSF27" X-linked EDA receptor Tumor necrosis factor receptor superfamily 782 2004-08-17 2023-01-20 60401 ENSG00000131080 OTTHUMG00000021736 uc004dwq.4 AF298812 NM_021783 "CCDS14386|CCDS56603" Q9HAV5 11039935 MGI:2442860 RGD:1564025 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDA2R 300276 325286 objectId:1896 HGNC:17756 "ENST00000374719.8|NM_021783.5" HGNC:17756 HGNC:2895 EDAR ectodysplasin A receptor protein-coding gene gene with protein product Approved 2q13 02q13 "ED5|EDA3|ED1R|EDA1R" "ectodysplasin A1 receptor|Tumor necrosis factor receptor superfamily member EDAR" "ED3|DL" ectodysplasin 1, anhidrotic receptor Tumor necrosis factor receptor superfamily 782 1999-08-09 2004-08-09 2023-01-20 10913 ENSG00000135960 OTTHUMG00000130982 uc002teq.4 AF130988 NM_022336 CCDS2081 Q9UNE0 "10431241|9375732|11039935" MGI:1343498 RGD:1561714 604095 121273 objectId:2325 HGNC:2895 "ENST00000258443.7|NM_022336.4" HGNC:2895 HGNC:14341 EDARADD EDAR associated via death domain protein-coding gene gene with protein product Approved 1q42.3-q43 01q42.3-q43 CR "Ectodysplasin-A receptor-associated adapter protein|crinkled" EDAR associated death domain 2002-02-08 2023-01-19 2023-01-20 128178 ENSG00000186197 OTTHUMG00000039954 uc001hxu.2 AY028914 NM_145861 "CCDS1610|CCDS31065" Q8WWZ3 "11780064|11882293|17354266" MGI:1931001 RGD:1564010 606603 121282 HGNC:14341 "ENST00000334232.9|NM_145861.4" HGNC:14341 HGNC:26114 EDC3 enhancer of mRNA decapping 3 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "FLJ21128|hYjeF_N2-15q23|YJEFN2|LSM16" LSM16 homolog (EDC3, S. cerevisiae) YJDC "yjeF domain containing (E.coli)|enhancer of mRNA decapping 3 homolog (S. cerevisiae)" 2005-10-24 2006-07-07 2013-05-02 2023-01-20 80153 ENSG00000179151 OTTHUMG00000142815 uc002aym.4 BC011534 NM_025083 CCDS10267 Q96F86 "15225602|17533573|22483619" MGI:2142951 RGD:1306898 609842 434391 HGNC:26114 "ENST00000315127.9|NM_025083.5" HGNC:26114 @@ -7399,22 +7400,22 @@ HGNC:19224 EDDM3CP epididymal protein 3C, pseudogene pseudogene pseudogene Appro HGNC:37707 EDDM3DP epididymal protein 3D, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2010-06-17 2011-04-15 2014-11-19 100128220 ENSG00000258963 OTTHUMG00000171014 NG_028961 PGOHUM00000248044 HGNC:37707 HGNC:53168 EDDM13 epididymal protein 13 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 2017-03-16 2023-01-20 100506374 ENSG00000267710 OTTHUMG00000182076 NM_001354658 CCDS92694 A0A1B0GTR0 MGI:3643580 RGD:9080077 HGNC:53168 "ENST00000649256.2|NM_001354658.2" HGNC:18967 EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "KIAA0212|EDEM" ER degradation enhancer, mannosidase alpha-like 1 Mannosidases alpha class 1 1193 2003-10-03 2016-04-05 2023-01-20 9695 ENSG00000134109 OTTHUMG00000154896 uc003bqi.4 D86967 NM_014674 CCDS33686 Q92611 12610306 MGI:2180139 RGD:1563633 607673 HGNC:18967 "ENST00000256497.9|NM_014674.3" -HGNC:15877 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "FLJ10783|bA4204.1" "C20orf49|C20orf31" "chromosome 20 open reading frame 31|ER degradation enhancer, mannosidase alpha-like 2" Mannosidases alpha class 1 1193 2001-06-21 2006-03-31 2016-04-05 2023-01-20 55741 ENSG00000088298 OTTHUMG00000032322 uc002xbo.3 AK001645 NM_018217 "CCDS13247|CCDS46592" Q9BV94 "15537790|15579471" MGI:1915540 RGD:1303074 610302 HGNC:15877 "ENST00000374492.8|NM_018217.3" -HGNC:16787 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 C1orf22 "chromosome 1 open reading frame 22|ER degradation enhancer, mannosidase alpha-like 3" Mannosidases alpha class 1 1193 2001-10-08 2006-03-31 2016-04-05 2023-01-20 80267 ENSG00000116406 OTTHUMG00000035387 uc010pok.3 AF288393 NM_025191 "CCDS1363|CCDS91128" Q9BZQ6 "15537790|15579471" MGI:1914217 RGD:1561496 610214 HGNC:16787 "ENST00000318130.13|NM_025191.4" +HGNC:15877 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "FLJ10783|bA4204.1" "C20orf49|C20orf31" "chromosome 20 open reading frame 31|ER degradation enhancer, mannosidase alpha-like 2" Mannosidases alpha class 1 1193 2001-06-21 2006-03-31 2016-04-05 2023-01-20 55741 ENSG00000088298 OTTHUMG00000032322 uc002xbo.3 AK001645 NM_018217 "CCDS46592|CCDS13247" Q9BV94 "15537790|15579471" MGI:1915540 RGD:1303074 610302 HGNC:15877 "ENST00000374492.8|NM_018217.3" +HGNC:16787 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 C1orf22 "chromosome 1 open reading frame 22|ER degradation enhancer, mannosidase alpha-like 3" Mannosidases alpha class 1 1193 2001-10-08 2006-03-31 2016-04-05 2023-01-20 80267 ENSG00000116406 OTTHUMG00000035387 uc010pok.3 AF288393 NM_025191 "CCDS91128|CCDS1363" Q9BZQ6 "15537790|15579471" MGI:1914217 RGD:1561496 610214 HGNC:16787 "ENST00000318130.13|NM_025191.4" HGNC:3164 EDF1 endothelial differentiation related factor 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "EDF-1|CFAP280" multiprotein bridging factor-1 endothelial differentiation-related factor 1 Cilia and flagella associated 1491 1999-01-07 2016-03-15 2023-01-20 8721 ENSG00000107223 OTTHUMG00000020948 uc004cjt.3 AJ005259 NM_001281297 "CCDS65193|CCDS7012|CCDS7011" O60869 "9813014|15112053" MGI:1891227 RGD:1308073 605107 HGNC:3164 "ENST00000224073.6|NM_003792.4" -HGNC:3173 EDIL3 EGF like repeats and discoidin domains 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 DEL1 EGF-like repeats and discoidin I-like domains 3 1999-12-16 2016-01-21 2023-01-20 10085 ENSG00000164176 OTTHUMG00000119047 uc003kio.3 U70312 NM_005711 "CCDS64195|CCDS4062" O43854 9420328 MGI:1329025 RGD:1588887 606018 HGNC:3173 "ENST00000296591.10|NM_005711.5" +HGNC:3173 EDIL3 EGF like repeats and discoidin domains 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 DEL1 EGF-like repeats and discoidin I-like domains 3 1999-12-16 2016-01-21 2023-01-20 10085 ENSG00000164176 OTTHUMG00000119047 uc003kio.3 U70312 NM_005711 "CCDS4062|CCDS64195" O43854 9420328 MGI:1329025 RGD:1588887 606018 HGNC:3173 "ENST00000296591.10|NM_005711.5" HGNC:40204 EDIL3-DT EDIL3 divergent transcript non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Divergent transcripts 1990 2019-07-25 2019-07-25 105379057 ENSG00000250320 OTTHUMG00000162622 NR_183295 HGNC:40204 HGNC:3176 EDN1 endothelin 1 protein-coding gene gene with protein product Approved 6p24.1 06p24.1 ET1 Endothelins 1908 1989-04-06 2023-01-20 1906 ENSG00000078401 OTTHUMG00000014266 uc003nae.5 S56805 NM_001955 CCDS4522 P05305 MGI:95283 RGD:2532 131240 376969 ligandId:989 HGNC:3176 "ENST00000379375.6|NM_001955.5" HGNC:3176 HGNC:3177 EDN2 endothelin 2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 ET2 Endothelins 1908 1989-09-06 2023-01-20 1907 ENSG00000127129 OTTHUMG00000006362 uc001cgx.4 M65199 NM_001956 CCDS462 P20800 MGI:95284 RGD:2533 131241 ligandId:990 HGNC:3177 "ENST00000372587.5|NM_001956.5" -HGNC:3178 EDN3 endothelin 3 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 ET3 Endothelins 1908 1989-09-06 2023-01-20 1908 ENSG00000124205 OTTHUMG00000032867 uc002yaq.4 X52001 NM_000114 "CCDS13479|CCDS77597|CCDS13477|CCDS13478" P14138 MGI:95285 RGD:2534 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDN3|LRG_1381|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1381.xml" 131242 121284 ligandId:1004 HGNC:3178 "ENST00000337938.7|NM_207034.3" HGNC:3178 -HGNC:3179 EDNRA endothelin receptor type A protein-coding gene gene with protein product Approved 4q31.22-q31.23 04q31.22-q31.23 "ET-A|ETA-R|hET-AR" Endothelin receptors 225 1992-02-13 2023-03-15 1909 ENSG00000151617 OTTHUMG00000161354 uc003iky.4 D90348 NM_001166055 "CCDS3769|CCDS54810" P25101 1659806 MGI:105923 RGD:2535 131243 448610 objectId:219 HGNC:3179 "ENST00000651419.1|NM_001957.4" HGNC:3179 -HGNC:3180 EDNRB endothelin receptor type B protein-coding gene gene with protein product Approved 13q22.3 13q22.3 ETB "HSCR2|HSCR" Endothelin receptors 225 1992-02-13 2023-01-20 1910 ENSG00000136160 OTTHUMG00000017111 uc001vko.3 L06623 NM_000115 "CCDS45059|CCDS55902|CCDS9461" P24530 "1659806|9556633" MGI:102720 RGD:2536 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDNRB 131244 121287 objectId:220 HGNC:3180 "ENST00000646607.2|NM_001122659.3" HGNC:3180 +HGNC:3178 EDN3 endothelin 3 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 ET3 Endothelins 1908 1989-09-06 2023-01-20 1908 ENSG00000124205 OTTHUMG00000032867 uc002yaq.4 X52001 NM_000114 "CCDS13478|CCDS13477|CCDS77597|CCDS13479" P14138 MGI:95285 RGD:2534 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDN3|LRG_1381|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1381.xml" 131242 121284 ligandId:1004 HGNC:3178 "ENST00000337938.7|NM_207034.3" HGNC:3178 +HGNC:3179 EDNRA endothelin receptor type A protein-coding gene gene with protein product Approved 4q31.22-q31.23 04q31.22-q31.23 "ET-A|ETA-R|hET-AR" Endothelin receptors 225 1992-02-13 2023-03-15 1909 ENSG00000151617 OTTHUMG00000161354 uc003iky.4 D90348 NM_001166055 "CCDS54810|CCDS3769" P25101 1659806 MGI:105923 RGD:2535 131243 448610 objectId:219 HGNC:3179 "ENST00000651419.1|NM_001957.4" HGNC:3179 +HGNC:3180 EDNRB endothelin receptor type B protein-coding gene gene with protein product Approved 13q22.3 13q22.3 ETB "HSCR2|HSCR" Endothelin receptors 225 1992-02-13 2023-01-20 1910 ENSG00000136160 OTTHUMG00000017111 uc001vko.3 L06623 NM_000115 "CCDS55902|CCDS45059|CCDS9461" P24530 "1659806|9556633" MGI:102720 RGD:2536 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDNRB 131244 121287 objectId:220 HGNC:3180 "ENST00000646607.2|NM_001122659.3" HGNC:3180 HGNC:49045 EDNRB-AS1 EDNRB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q22.3 13q22.3 Antisense RNAs 1987 2013-08-15 2013-08-15 100505518 ENSG00000225579 OTTHUMG00000017113 BC031243 NR_103853 EDNRB-AS1 HGNC:49045 -HGNC:24640 EDRF1 erythroid differentiation regulatory factor 1 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "DKFZp586F1019|FLJ21617" erythroid differentiation-related factor 1 C10orf137 chromosome 10 open reading frame 137 2004-05-12 2013-12-20 2013-12-20 2023-01-20 26098 ENSG00000107938 OTTHUMG00000019233 AL050102 NM_015608 "CCDS7646|CCDS55733" Q3B7T1 12609092 MGI:1919831 RGD:1306820 HGNC:24640 "ENST00000356792.9|NM_001202438.2" +HGNC:24640 EDRF1 erythroid differentiation regulatory factor 1 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "DKFZp586F1019|FLJ21617" erythroid differentiation-related factor 1 C10orf137 chromosome 10 open reading frame 137 2004-05-12 2013-12-20 2013-12-20 2023-01-20 26098 ENSG00000107938 OTTHUMG00000019233 AL050102 NM_015608 "CCDS55733|CCDS7646" Q3B7T1 12609092 MGI:1919831 RGD:1306820 HGNC:24640 "ENST00000356792.9|NM_001202438.2" HGNC:49501 EDRF1-AS1 EDRF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.2 10q26.2 Antisense RNAs 1987 2013-12-20 2016-10-05 101927983 ENSG00000236991 OTTHUMG00000189700 "AA868453|BX091673" XR_246200 EDRF1-AS1 HGNC:49501 HGNC:54128 EDRF1-DT EDRF1 divergent transcript non-coding RNA RNA, long non-coding Approved 10q26.2 10q26.2 Divergent transcripts 1990 2018-12-06 2018-12-06 399821 ENSG00000224023 NR_033847 HGNC:54128 HGNC:3185 EEA1 early endosome antigen 1 protein-coding gene gene with protein product Approved 12q22 12q22 ZFYVE2 early endosome antigen 1, 162kD Zinc fingers FYVE-type 81 1998-12-23 2007-02-23 2023-01-20 8411 ENSG00000102189 OTTHUMG00000170110 uc001tck.4 L40157 NM_003566 CCDS31874 Q15075 "7768953|9697774" MGI:2442192 RGD:1310167 605070 HGNC:3185 "ENST00000322349.13|NM_003566.4" -HGNC:3188 EED embryonic ectoderm development protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "WAIT-1|HEED" WD protein associating with integrin cytoplasmic tails 1 "WD repeat domain containing|Polycomb repressive complex 2|MicroRNA protein coding host genes" "362|1347|1691" 1998-12-09 2023-03-15 8726 ENSG00000074266 OTTHUMG00000167209 uc001pbp.4 AF078933 NM_003797 "CCDS76463|CCDS81612|CCDS8273" O75530 "9765275|9806832" MGI:95286 RGD:1309782 605984 objectId:2487 HGNC:3188 "ENST00000263360.11|NM_003797.5" HGNC:3188 +HGNC:3188 EED embryonic ectoderm development protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "WAIT-1|HEED" WD protein associating with integrin cytoplasmic tails 1 "WD repeat domain containing|Polycomb repressive complex 2|MicroRNA protein coding host genes" "362|1347|1691" 1998-12-09 2023-03-15 8726 ENSG00000074266 OTTHUMG00000167209 uc001pbp.4 AF078933 NM_003797 "CCDS81612|CCDS8273|CCDS76463" O75530 "9765275|9806832" MGI:95286 RGD:1309782 605984 objectId:2487 HGNC:3188 "ENST00000263360.11|NM_003797.5" HGNC:3188 HGNC:55143 EEDP1 EED pseudogene 1 pseudogene pseudogene Approved Xq27.1 Xq27.1 2020-07-15 2020-07-15 266694 ENSG00000224942 NG_002372 HGNC:3189 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 protein-coding gene gene with protein product Approved 6q13 06q13 "EE1A1|EF1A1|EF1alpha1" Elongation factor 1-alpha 1 "EF1A|EEF1A|LENG7" leukocyte receptor cluster (LRC) member 7 1991-03-11 2004-11-19 2023-01-20 1915 ENSG00000156508 OTTHUMG00000015031 uc063pot.1 BC019669 NM_001402 CCDS4980 P68104 "8812466|10941842" MGI:1096881 RGD:67387 130590 470256 HGNC:3189 "ENST00000309268.11|NM_001402.6" HGNC:40206 EEF1A1-AS1 EEF1A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 Antisense RNAs 1987 2021-07-28 2021-07-28 122152327 ENSG00000229862 OTTHUMG00000150059 @@ -7492,7 +7493,7 @@ HGNC:33524 EEF1DP5 eukaryotic translation elongation factor 1 delta pseudogene 5 HGNC:51456 EEF1DP6 eukaryotic translation elongation factor 1 delta pseudogene 6 pseudogene pseudogene Approved 1p36.32 01p36.32 2014-11-28 2014-11-28 644357 ENSG00000229280 OTTHUMG00000000732 NG_006533 PGOHUM00000295534 HGNC:51456 HGNC:51457 EEF1DP7 eukaryotic translation elongation factor 1 delta pseudogene 7 pseudogene pseudogene Approved 17q23.3 17q23.3 2014-11-28 2014-11-28 100422656 ENSG00000263883 OTTHUMG00000178906 NG_026262 PGOHUM00000294515 HGNC:51457 HGNC:51458 EEF1DP8 eukaryotic translation elongation factor 1 delta pseudogene 8 pseudogene pseudogene Approved 11q12.3 11q12.3 2014-11-28 2014-11-28 283236 ENSG00000236607 OTTHUMG00000167503 NG_006515 PGOHUM00000290994 HGNC:51458 -HGNC:3212 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 AIMP3 "aminoacyl tRNA synthetase complex-interacting multifunctional protein 3|multisynthetase complex auxiliary component p18" P18 "Small nucleolar RNA protein coding host genes|Aminoacyl tRNA synthetase complex interacting multifunctional proteins" "1835|2116" 1999-07-22 2023-01-20 9521 ENSG00000124802 OTTHUMG00000014221 uc003mxz.4 AF054186 NM_004280 "CCDS47370|CCDS4507" O43324 "9653160|19024604" MGI:1913393 RGD:1311056 609206 HGNC:3212 "ENST00000379715.10|NM_004280.5" +HGNC:3212 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 AIMP3 "aminoacyl tRNA synthetase complex-interacting multifunctional protein 3|multisynthetase complex auxiliary component p18" P18 "Small nucleolar RNA protein coding host genes|Aminoacyl tRNA synthetase complex interacting multifunctional proteins" "1835|2116" 1999-07-22 2023-01-20 9521 ENSG00000124802 OTTHUMG00000014221 uc003mxz.4 AF054186 NM_004280 "CCDS4507|CCDS47370" O43324 "9653160|19024604" MGI:1913393 RGD:1311056 609206 HGNC:3212 "ENST00000379715.10|NM_004280.5" HGNC:49187 EEF1E1-BLOC1S5 EEF1E1-BLOC1S5 readthrough (NMD candidate) other readthrough Approved 6p24.3 06p24.3 2013-09-25 2013-09-25 100526837 ENSG00000265818 OTTHUMG00000179299 NR_037618 HGNC:49187 HGNC:51459 EEF1E1P1 eukaryotic translation elongation factor 1 epsilon 1 pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 2014-11-28 2014-11-28 100130388 ENSG00000236307 OTTHUMG00000153261 NG_008760 PGOHUM00000298643 HGNC:51459 HGNC:3213 EEF1G eukaryotic translation elongation factor 1 gamma protein-coding gene gene with protein product Approved 11q12.3 11q12.3 EF1G MicroRNA protein coding host genes 1691 1992-08-07 2023-01-20 1937 ENSG00000254772 OTTHUMG00000167567 uc001ntm.2 X63526 NM_001404 CCDS44626 P26641 "1598220|1461723" MGI:1914410 RGD:1302939 130593 HGNC:3213 "ENST00000329251.5|NM_001404.5" @@ -7506,72 +7507,72 @@ HGNC:44562 EEF1GP7 eukaryotic translation elongation factor 1 gamma pseudogene 7 HGNC:44563 EEF1GP8 eukaryotic translation elongation factor 1 gamma pseudogene 8 pseudogene pseudogene Approved 4q28.2 04q28.2 2012-11-15 2014-11-28 391698 ENSG00000234125 OTTHUMG00000161195 NG_022079 PGOHUM00000300374 HGNC:44563 HGNC:3214 EEF2 eukaryotic translation elongation factor 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 EEF-2 polypeptidyl-tRNA translocase EF2 Small nucleolar RNA protein coding host genes 1835 1991-03-11 2023-01-20 1938 ENSG00000167658 OTTHUMG00000181790 uc002lze.4 Z11692 NM_001961 CCDS12117 P13639 "2610926|6427766" MGI:95288 RGD:61979 130610 370413 objectId:2756 HGNC:3214 "ENST00000309311.7|NM_001961.4" HGNC:3214 HGNC:24615 EEF2K eukaryotic elongation factor 2 kinase protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "eEF-2K|CaMKIII" Calmodulin dependent protein kinases 1630 2004-07-05 2014-11-17 2023-01-20 29904 ENSG00000103319 OTTHUMG00000094771 uc002dki.4 U93850 NM_013302 CCDS10604 O00418 "9144159|12051769" MGI:1195261 RGD:2538 606968 objectId:2014 HGNC:24615 "ENST00000263026.10|NM_013302.5" -HGNC:32221 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SB153|MGC19636|EFM3" FAM86A family with sequence similarity 86, member A 7BS protein lysine methyltransferases 2056 2005-08-19 2014-11-17 2014-11-17 2023-01-20 196483 ENSG00000118894 OTTHUMG00000129527 BC010084 NM_201400 "CCDS10529|CCDS10530|CCDS73823" Q96G04 25231979 MGI:1917761 RGD:1304969 615263 HGNC:32221 "ENST00000427587.9|NM_201400.4" +HGNC:32221 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SB153|MGC19636|EFM3" FAM86A family with sequence similarity 86, member A 7BS protein lysine methyltransferases 2056 2005-08-19 2014-11-17 2014-11-17 2023-01-20 196483 ENSG00000118894 OTTHUMG00000129527 BC010084 NM_201400 "CCDS10529|CCDS73823|CCDS10530" Q96G04 25231979 MGI:1917761 RGD:1304969 615263 HGNC:32221 "ENST00000427587.9|NM_201400.4" HGNC:24614 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "SELB|EFSEC" "elongation factor for selenoprotein translation|selenocysteine (Sec)-specific eukaryotic elongation factor" 2005-04-08 2016-05-23 2023-01-20 60678 ENSG00000132394 OTTHUMG00000159659 uc003eki.4 NM_021937 CCDS33849 P57772 "10970870|15229221" MGI:2137092 RGD:1560552 607695 HGNC:24614 "ENST00000254730.11|NM_021937.5" HGNC:31419 EEIG1 estrogen-induced osteoclastogenesis regulator 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "Eeig1|bA203J24.7|SYM-3A" "sym-3 homolog A (C. elegans)|early estrogen-induced gene 1" "C9orf132|FAM102A" "chromosome 9 open reading frame 132|family with sequence similarity 102 member A" NT-C2 domain containing 1537 2005-03-22 2022-09-01 2022-09-01 2023-01-20 399665 ENSG00000167106 OTTHUMG00000020720 uc004bsx.3 NM_001035254 "CCDS35150|CCDS6888" Q5T9C2 23478294 MGI:2138935 RGD:1597535 610891 HGNC:31419 "ENST00000373095.6|NM_001035254.3" HGNC:27637 EEIG2 EEIG family member 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "DKFZp779B126|SYM-3B" sym-3 homolog B (C. elegans) FAM102B "family with sequence similarity 102, member B|family with sequence similarity 102 member B" NT-C2 domain containing 1537 2005-11-17 2022-09-01 2022-09-01 2023-01-20 284611 ENSG00000162636 OTTHUMG00000010967 uc010ouy.3 CR749397 NM_001010883 CCDS30786 Q5T8I3 MGI:3036259 RGD:1310037 HGNC:27637 "ENST00000370035.8|NM_001010883.3" HGNC:22223 EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 KIAA1706 2007-12-07 2007-12-07 2023-01-20 80820 ENSG00000122547 OTTHUMG00000154904 uc003tfa.4 AK027386 NM_030636 CCDS34619 Q7L9B9 26684013 MGI:1914734 RGD:1307401 617192 HGNC:22223 "ENST00000242108.9|NM_030636.3" -HGNC:28166 EFCAB2 EF-hand calcium binding domain 2 protein-coding gene gene with protein product Approved 1q44 01q44 "MGC12458|DRC8|CFAP200" dynein regulatory complex subunit 8 "EF-hand domain containing|Dynein regulatory complex|Cilia and flagella associated" "863|981|1491" 2005-07-25 2023-01-20 84288 ENSG00000203666 OTTHUMG00000040474 uc001ibc.3 AB209286 NM_001143943 "CCDS44341|CCDS31082" Q5VUJ9 23427265 MGI:1915476 RGD:1308593 619617 HGNC:28166 "ENST00000366523.6|NM_032328.4" +HGNC:28166 EFCAB2 EF-hand calcium binding domain 2 protein-coding gene gene with protein product Approved 1q44 01q44 "MGC12458|DRC8|CFAP200" dynein regulatory complex subunit 8 "EF-hand domain containing|Dynein regulatory complex|Cilia and flagella associated" "863|981|1491" 2005-07-25 2023-01-20 84288 ENSG00000203666 OTTHUMG00000040474 uc001ibc.3 AB209286 NM_001143943 "CCDS31082|CCDS44341" Q5VUJ9 23427265 MGI:1915476 RGD:1308593 619617 HGNC:28166 "ENST00000366523.6|NM_032328.4" HGNC:26379 EFCAB3 EF-hand calcium binding domain 3 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 FLJ25818 EF-hand domain containing 863 2006-02-13 2023-01-20 146779 ENSG00000172421 OTTHUMG00000179175 uc002izu.3 AK098684 NM_173503 "CCDS45751|CCDS11632" Q8N7B9 12477932 MGI:1918144 RGD:1305423 619567 HGNC:26379 "ENST00000305286.8|NM_173503.4" HGNC:56232 EFCAB3P1 EFCAB3 pseudogene 1 pseudogene pseudogene Approved 7q32.1 07q32.1 2022-04-25 2022-04-25 125775236 ENSG00000272601 NG_084045 PGOHUM00000302923 -HGNC:24801 EFCAB5 EF-hand calcium binding domain 5 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FLJ46247 EF-hand domain containing 863 2006-04-21 2023-01-20 374786 ENSG00000176927 OTTHUMG00000179743 uc002het.3 AL833911 NM_198529 "CCDS54103|CCDS11254" A4FU69 MGI:2442440 RGD:1309650 HGNC:24801 "ENST00000394835.8|NM_198529.4" +HGNC:24801 EFCAB5 EF-hand calcium binding domain 5 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FLJ46247 EF-hand domain containing 863 2006-04-21 2023-01-20 374786 ENSG00000176927 OTTHUMG00000179743 uc002het.3 AL833911 NM_198529 "CCDS11254|CCDS54103" A4FU69 MGI:2442440 RGD:1309650 HGNC:24801 "ENST00000394835.8|NM_198529.4" HGNC:24204 EFCAB6 EF-hand calcium binding domain 6 protein-coding gene gene with protein product Approved 22q13.2-q13.31 22q13.2-q13.31 "FLJ23588|DJBP|HSCBCIP1|KIAA1672|dJ185D5.1" EF-hand domain containing 863 2007-06-07 2023-01-20 64800 ENSG00000186976 OTTHUMG00000150522 uc003bdy.3 Z82201 NM_022785 "CCDS14049|CCDS14050" Q5THR3 "11258795|12612053" MGI:1924877 RGD:1309065 619664 HGNC:24204 "ENST00000262726.12|NM_022785.4" HGNC:39999 EFCAB6-AS1 EFCAB6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 CITF22-123F2.1 EFCAB6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2018-06-28 100874197 ENSG00000223843 OTTHUMG00000150523 uc031rxy.2 NR_046563 EFCAB6-AS1 HGNC:39999 HGNC:55371 EFCAB6-DT EFCAB6 divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Divergent transcripts 1990 2020-11-11 2020-11-11 107985564 ENSG00000261251 HGNC:29379 EFCAB7 EF-hand calcium binding domain 7 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA1799|RP4-534K7.1" EF-hand domain containing 863 2007-12-06 2023-01-20 84455 ENSG00000203965 OTTHUMG00000008983 uc001dbf.4 BC015814 NM_032437 CCDS30737 A8K855 11347906 MGI:2385199 RGD:1561825 617632 HGNC:29379 "ENST00000371088.5|NM_032437.4" HGNC:34532 EFCAB8 EF-hand calcium binding domain 8 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 EF-hand domain containing 863 2008-09-24 2023-03-15 388795 ENSG00000215529 OTTHUMG00000153693 uc061wfj.1 NM_001143967 A8MWE9 MGI:3644206 RGD:1597364 HGNC:34532 "ENST00000400522.9|NM_001143967.2" HGNC:34530 EFCAB9 EF-hand calcium binding domain 9 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 EF-hand domain containing 863 2008-09-24 2023-01-20 285588 ENSG00000214360 OTTHUMG00000163271 uc021yhr.2 NM_001171183 CCDS54946 A8MZ26 MGI:1916556 RGD:1588807 618520 HGNC:34530 "ENST00000398186.5|NM_001171183.2" -HGNC:34531 EFCAB10 EF-hand calcium binding domain 10 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 EF-hand domain containing 863 2008-09-25 2023-01-20 100130771 ENSG00000185055 OTTHUMG00000157397 uc003vdc.5 BC105284 NM_001355531 "CCDS87536|CCDS87537|CCDS87535|CCDS87538" A6NFE3 MGI:1922290 RGD:1307943 HGNC:34531 "ENST00000480514.6|NM_001355526.2" +HGNC:34531 EFCAB10 EF-hand calcium binding domain 10 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 EF-hand domain containing 863 2008-09-25 2023-01-20 100130771 ENSG00000185055 OTTHUMG00000157397 uc003vdc.5 BC105284 NM_001355531 "CCDS87538|CCDS87537|CCDS87535|CCDS87536" A6NFE3 MGI:1922290 RGD:1307943 HGNC:34531 "ENST00000480514.6|NM_001355526.2" HGNC:56350 EFCAB10-AS1 EFCAB10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 Antisense RNAs 1987 2022-10-06 2022-10-06 127138863 ENSG00000272604 NR_182303 -HGNC:20357 EFCAB11 EF-hand calcium binding domain 11 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 C14orf143 chromosome 14 open reading frame 143 EF-hand domain containing 863 2003-01-28 2011-01-31 2011-01-31 2023-01-20 90141 ENSG00000140025 OTTHUMG00000148671 uc001xxt.5 AK094740 NM_145231 "CCDS61523|CCDS61522|CCDS61525|CCDS61524|CCDS9887" Q9BUY7 MGI:1926017 RGD:1565006 HGNC:20357 "ENST00000316738.12|NM_145231.4" +HGNC:20357 EFCAB11 EF-hand calcium binding domain 11 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 C14orf143 chromosome 14 open reading frame 143 EF-hand domain containing 863 2003-01-28 2011-01-31 2011-01-31 2023-01-20 90141 ENSG00000140025 OTTHUMG00000148671 uc001xxt.5 AK094740 NM_145231 "CCDS9887|CCDS61524|CCDS61522|CCDS61523|CCDS61525" Q9BUY7 MGI:1926017 RGD:1565006 HGNC:20357 "ENST00000316738.12|NM_145231.4" HGNC:28061 EFCAB12 EF-hand calcium binding domain 12 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 C3orf25 chromosome 3 open reading frame 25 EF-hand domain containing 863 2005-11-15 2012-07-20 2012-07-20 2023-01-20 90288 ENSG00000172771 OTTHUMG00000159464 uc003emg.3 AK096099 NM_207307 CCDS54638 Q6NXP0 MGI:2681834 RGD:1586985 HGNC:28061 "ENST00000505956.6|NM_207307.3" -HGNC:26864 EFCAB13 EF-hand calcium binding domain 13 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 FLJ40342 C17orf57 chromosome 17 open reading frame 57 EF-hand domain containing 863 2005-12-20 2012-07-20 2012-07-20 2023-01-20 124989 ENSG00000178852 OTTHUMG00000164767 uc002iln.4 BC036407 NM_152347 "CCDS56034|CCDS11512" Q8IY85 MGI:3651790 RGD:2318166 HGNC:26864 "ENST00000331493.7|NM_152347.5" +HGNC:26864 EFCAB13 EF-hand calcium binding domain 13 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 FLJ40342 C17orf57 chromosome 17 open reading frame 57 EF-hand domain containing 863 2005-12-20 2012-07-20 2012-07-20 2023-01-20 124989 ENSG00000178852 OTTHUMG00000164767 uc002iln.4 BC036407 NM_152347 "CCDS11512|CCDS56034" Q8IY85 MGI:3651790 RGD:2318166 HGNC:26864 "ENST00000331493.7|NM_152347.5" HGNC:55338 EFCAB13-DT EFCAB13 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 THCAT158 thyroid cancer-associated transcript 158 Divergent transcripts 1990 2020-10-21 2020-10-21 102724508 ENSG00000263293 NR_110880 HGNC:29051 EFCAB14 EF-hand calcium binding domain 14 protein-coding gene gene with protein product Approved 1p33 01p33 KIAA0494 KIAA0494 EF-hand domain containing 863 2005-07-29 2012-11-29 2012-11-29 2023-01-20 9813 ENSG00000159658 OTTHUMG00000007992 uc001cqk.4 AB007963 NM_014774 CCDS30706 O75071 9455484 MGI:2442397 RGD:1310351 619559 HGNC:29051 "ENST00000371933.8|NM_014774.3" HGNC:44108 EFCAB14-AS1 EFCAB14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 KIAA0494-AS1 "KIAA0494 antisense RNA 1 (non-protein coding)|KIAA0494 antisense RNA 1" Antisense RNAs 1987 2012-06-22 2012-11-29 2012-11-29 2012-11-29 100130197 ENSG00000228237 OTTHUMG00000007993 uc021ond.2 BX113937 NR_038827 EFCAB14-AS1 HGNC:44108 HGNC:44648 EFCAB14P1 EF-hand calcium binding domain 14 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 2012-11-29 2012-11-29 106479047 ENSG00000228348 OTTHUMG00000004161 NG_044476 PGOHUM00000244668 HGNC:44648 HGNC:55140 EFCAB15P EF-hand calcium binding domain 15, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2020-07-08 2020-07-08 118568824 ENSG00000233483 NG_084024 MGI:1916691 RGD:2319718 -HGNC:25692 EFCC1 EF-hand and coiled-coil domain containing 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 FLJ12057 "C3orf73|CCDC48" "chromosome 3 open reading frame 73|coiled-coil domain containing 48" EF-hand domain containing 863 2005-12-19 2013-01-11 2013-01-11 2023-01-20 79825 ENSG00000114654 OTTHUMG00000158996 uc011bkt.2 AK022119 NM_024768 "CCDS3054|CCDS93371" Q9HA90 MGI:3611451 RGD:1596494 HGNC:25692 "ENST00000683648.1|NM_001377500.1" +HGNC:25692 EFCC1 EF-hand and coiled-coil domain containing 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 FLJ12057 "C3orf73|CCDC48" "chromosome 3 open reading frame 73|coiled-coil domain containing 48" EF-hand domain containing 863 2005-12-19 2013-01-11 2013-01-11 2023-01-20 79825 ENSG00000114654 OTTHUMG00000158996 uc011bkt.2 AK022119 NM_024768 "CCDS93371|CCDS3054" Q9HA90 MGI:3611451 RGD:1596494 HGNC:25692 "ENST00000683648.1|NM_001377500.1" HGNC:3218 EFEMP1 EGF containing fibulin extracellular matrix protein 1 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "S1-5|FBLN3|MTLV" fibulin 3 "DHRD|FBNL" "fibrillin-like|EGF-containing fibulin-like extracellular matrix protein 1|EGF containing fibulin like extracellular matrix protein 1" Fibulins 556 1996-04-30 2017-10-12 2023-03-15 2202 ENSG00000115380 OTTHUMG00000129343 uc002rzj.4 U03877 NM_001039348 CCDS1857 Q12805 "8812496|7799918" MGI:1339998 RGD:1308528 Mutations of the EGF-containing fibulin-like extracellular matrix protein 1|http://www.retina-international.org/files/sci-news/efempmut.htm 601548 121292 HGNC:3218 "ENST00000355426.8|NM_001039348.3" HGNC:3218 HGNC:3219 EFEMP2 EGF containing fibulin extracellular matrix protein 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FBLN4|UPH1" fibulin 4 "EGF-containing fibulin-like extracellular matrix protein 2|EGF containing fibulin like extracellular matrix protein 2" Fibulins 556 2000-03-01 2017-10-12 2023-01-20 30008 ENSG00000172638 OTTHUMG00000166664 uc001ofy.5 AF109121 NM_016938 CCDS8116 O95967 "10601734|10982184" MGI:1891209 RGD:1359496 604633 121299 HGNC:3219 "ENST00000307998.11|NM_016938.5" HGNC:3219 HGNC:26330 EFHB EF-hand domain family member B protein-coding gene gene with protein product Approved 3p24.3 03p24.3 "FLJ25200|CFAP21" cilia and flagella associated protein 21 EF-hand domain family, member B "EF-hand domain containing|Cilia and flagella associated" "863|1491" 2005-01-25 2015-11-18 2023-01-20 151651 ENSG00000163576 OTTHUMG00000150505 uc003cbl.5 AK122616 NM_144715 "CCDS82744|CCDS33715" Q8N7U6 30481768 MGI:3045296 RGD:1566407 HGNC:26330 "ENST00000295824.14|NM_144715.4" -HGNC:16406 EFHC1 EF-hand domain containing 1 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "FLJ10466|RIB72|POC9" myoclonin-1 "EJM1|EJM" "epilepsy, juvenile myoclonic 1|EF-hand domain (C-terminal) containing 1" EF-hand domain containing 863 2001-08-21 2016-04-06 2023-01-20 114327 ENSG00000096093 OTTHUMG00000014848 uc003pap.5 AK001328 NM_018100 "CCDS55021|CCDS4942" Q5JVL4 15258581 MGI:1919127 RGD:1587365 608815 121303 HGNC:16406 "ENST00000371068.11|NM_018100.4" HGNC:16406 +HGNC:16406 EFHC1 EF-hand domain containing 1 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "FLJ10466|RIB72|POC9" myoclonin-1 "EJM1|EJM" "epilepsy, juvenile myoclonic 1|EF-hand domain (C-terminal) containing 1" EF-hand domain containing 863 2001-08-21 2016-04-06 2023-01-20 114327 ENSG00000096093 OTTHUMG00000014848 uc003pap.5 AK001328 NM_018100 "CCDS4942|CCDS55021" Q5JVL4 15258581 MGI:1919127 RGD:1587365 608815 121303 HGNC:16406 "ENST00000371068.11|NM_018100.4" HGNC:16406 HGNC:26233 EFHC2 EF-hand domain containing 2 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 FLJ22843 MRX74 "mental retardation, X-linked 74|EF-hand domain (C-terminal) containing 2" EF-hand domain containing 863 2004-09-02 2016-04-06 2023-01-20 80258 ENSG00000183690 OTTHUMG00000021393 uc004dgb.5 AK026254 NM_025184 CCDS55405 Q5JST6 17221867 MGI:1921655 RGD:1563388 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EFHC2 300817 HGNC:26233 "ENST00000420999.2|NM_025184.4" -HGNC:29556 EFHD1 EF-hand domain family member D1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 FLJ13612 swiprosin-2 EF hand domain containing 1 EF-hand domain containing 863 2004-01-29 2015-11-05 2023-01-20 80303 ENSG00000115468 OTTHUMG00000133263 uc002vtc.4 NM_025202 "CCDS82580|CCDS2497|CCDS58755" Q9BUP0 21244694 MGI:1921607 RGD:1559565 611617 HGNC:29556 "ENST00000264059.8|NM_025202.4" +HGNC:29556 EFHD1 EF-hand domain family member D1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 FLJ13612 swiprosin-2 EF hand domain containing 1 EF-hand domain containing 863 2004-01-29 2015-11-05 2023-01-20 80303 ENSG00000115468 OTTHUMG00000133263 uc002vtc.4 NM_025202 "CCDS58755|CCDS2497|CCDS82580" Q9BUP0 21244694 MGI:1921607 RGD:1559565 611617 HGNC:29556 "ENST00000264059.8|NM_025202.4" HGNC:28670 EFHD2 EF-hand domain family member D2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 MGC4342 swiprosin-1 EF hand domain containing 2 EF-hand domain containing 863 2004-01-29 2015-11-05 2023-01-20 79180 ENSG00000142634 OTTHUMG00000002254 uc001awh.2 BC014923 NM_024329 CCDS155 Q96C19 21244694 MGI:106504 RGD:1307585 616450 470258 HGNC:28670 "ENST00000375980.9|NM_024329.6" HGNC:55801 EFHD2-AS1 EFHD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 Antisense RNAs 1987 2021-07-29 2021-07-29 101927441 ENSG00000228140 NR_183705 -HGNC:25789 EFL1 elongation factor like GTPase 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ13119|FAM42A|HsT19294|RIA1" ribosome assembly 1 homolog (yeast) EFTUD1 elongation factor Tu GTP binding domain containing 1 Ribosomal biogenesis factors 1729 2004-07-01 2016-01-05 2016-01-05 2023-01-20 79631 ENSG00000140598 OTTHUMG00000172573 uc002bgt.2 AK056656 NM_024580 "CCDS42070|CCDS42071" Q7Z2Z2 "14702039|21536732" MGI:2141969 RGD:1306521 617538 HGNC:25789 "ENST00000268206.12|NM_024580.6" HGNC:25789 +HGNC:25789 EFL1 elongation factor like GTPase 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ13119|FAM42A|HsT19294|RIA1" ribosome assembly 1 homolog (yeast) EFTUD1 elongation factor Tu GTP binding domain containing 1 Ribosomal biogenesis factors 1729 2004-07-01 2016-01-05 2016-01-05 2023-01-20 79631 ENSG00000140598 OTTHUMG00000172573 uc002bgt.2 AK056656 NM_024580 "CCDS42071|CCDS42070" Q7Z2Z2 "14702039|21536732" MGI:2141969 RGD:1306521 617538 HGNC:25789 "ENST00000268206.12|NM_024580.6" HGNC:25789 HGNC:31739 EFL1P1 elongation factor like GTPase 1 pseudogene 1 pseudogene pseudogene Approved 15q25.2 15q25.2 HsT19321 similar to hypothetical protein FLJ13119 "FAM42B|EFTUD1P1" "family with sequence similarity 42, member B|elongation factor Tu GTP binding domain containing 1 pseudogene 1" 2004-06-29 2017-11-22 2017-11-22 2020-04-20 648809 ENSG00000259404 OTTHUMG00000172493 NR_036652 PGOHUM00000293326 HGNC:31739 HGNC:44202 EFL1P2 elongation factor like GTPase 1 pseudogene 2 pseudogene pseudogene Approved 4q13.1 04q13.1 EFTUD1P2 elongation factor Tu GTP binding domain containing 1 pseudogene 2 2012-07-04 2017-11-22 2017-11-22 2017-11-22 100422019 ENSG00000248998 OTTHUMG00000160702 NG_025113 PGOHUM00000299849 HGNC:44202 HGNC:3221 EFNA1 ephrin A1 protein-coding gene gene with protein product Approved 1q22 01q22 "LERK1|ECKLG|GMAN" "EPH-related receptor tyrosine kinase ligand 1|Tumor necrosis factor alpha-induced protein 4|gastric cancer metastasis associated long noncoding RNA" "TNFAIP4|EPLG1" ephrin-A1 Ephrins 546 1992-10-20 2016-04-05 2023-01-20 1942 ENSG00000169242 OTTHUMG00000035312 uc001fhh.4 NM_004428 "CCDS1091|CCDS1092" P20827 "2233719|8660976" MGI:103236 RGD:620388 191164 ligandId:4908 HGNC:3221 "ENST00000368407.8|NM_004428.3" HGNC:3222 EFNA2 ephrin A2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ELF-1|LERK6" EPH-related receptor tyrosine kinase ligand 6 EPLG6 ephrin-A2 Ephrins 546 1995-05-10 2016-04-05 2023-01-20 1943 ENSG00000099617 OTTHUMG00000180148 uc002lry.3 NM_001405 CCDS12061 O43921 MGI:102707 RGD:620389 602756 ligandId:4909 HGNC:3222 "ENST00000215368.4|NM_001405.4" HGNC:3223 EFNA3 ephrin A3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "LERK3|Ehk1-L" EPH-related receptor tyrosine kinase ligand 3 EPLG3 ephrin-A3 Ephrins 546 1995-01-17 2016-04-05 2023-01-20 1944 ENSG00000143590 OTTHUMG00000035313 uc001fhf.3 BC017722 NM_004952 CCDS1090 P52797 8660976 MGI:106644 RGD:620390 601381 ligandId:4910 HGNC:3223 "ENST00000368408.4|NM_004952.5" -HGNC:3224 EFNA4 ephrin A4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LERK4 EPH-related receptor tyrosine kinase ligand 4 EPLG4 ephrin-A4 Ephrins 546 1995-01-17 2016-04-05 2023-01-20 1945 ENSG00000243364 OTTHUMG00000035309 uc001fhd.4 AJ006352 NM_005227 "CCDS41407|CCDS1089|CCDS44237" P52798 8660976 MGI:106643 RGD:1307808 601380 ligandId:4911 HGNC:3224 "ENST00000368409.8|NM_005227.3" -HGNC:3225 EFNA5 ephrin A5 protein-coding gene gene with protein product Approved 5q21.3 05q21.3 "AF1|LERK7" EPH-related receptor tyrosine kinase ligand 7 EPLG7 ephrin-A5 Ephrins 546 1995-05-10 2016-04-05 2023-01-20 1946 ENSG00000184349 OTTHUMG00000128741 uc003kol.3 U26403 NM_001962 "CCDS4097|CCDS93759" P52803 "8661153|9245480" MGI:107444 RGD:620391 601535 ligandId:4912 HGNC:3225 "ENST00000333274.11|NM_001962.3" +HGNC:3224 EFNA4 ephrin A4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LERK4 EPH-related receptor tyrosine kinase ligand 4 EPLG4 ephrin-A4 Ephrins 546 1995-01-17 2016-04-05 2023-01-20 1945 ENSG00000243364 OTTHUMG00000035309 uc001fhd.4 AJ006352 NM_005227 "CCDS44237|CCDS41407|CCDS1089" P52798 8660976 MGI:106643 RGD:1307808 601380 ligandId:4911 HGNC:3224 "ENST00000368409.8|NM_005227.3" +HGNC:3225 EFNA5 ephrin A5 protein-coding gene gene with protein product Approved 5q21.3 05q21.3 "AF1|LERK7" EPH-related receptor tyrosine kinase ligand 7 EPLG7 ephrin-A5 Ephrins 546 1995-05-10 2016-04-05 2023-01-20 1946 ENSG00000184349 OTTHUMG00000128741 uc003kol.3 U26403 NM_001962 "CCDS93759|CCDS4097" P52803 "8661153|9245480" MGI:107444 RGD:620391 601535 ligandId:4912 HGNC:3225 "ENST00000333274.11|NM_001962.3" HGNC:3226 EFNB1 ephrin B1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "LERK2|Elk-L" EPH-related receptor tyrosine kinase ligand 2 "EPLG2|CFNS" "craniofrontonasal syndrome (craniofrontonasal dysplasia)|ephrin-B1" Ephrins 546 1995-01-17 2016-04-05 2023-01-20 1947 ENSG00000090776 OTTHUMG00000021751 uc004dxd.5 U09303 NM_004429 CCDS14391 P98172 "7774950|16526919" MGI:102708 RGD:2540 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EFNB1 300035 121305 ligandId:4913 HGNC:3226 "ENST00000204961.5|NM_004429.5" HGNC:3226 HGNC:3227 EFNB2 ephrin B2 protein-coding gene gene with protein product Approved 13q33.3 13q33.3 "LERK5|Htk-L|HTKL|MGC126226|MGC126227|MGC126228" "HTK ligand|ligand of eph-related kinase 5|eph-related receptor tyrosine kinase ligand 5" EPLG5 ephrin-B2 Ephrins 546 1995-01-17 2016-04-05 2023-01-20 1948 ENSG00000125266 OTTHUMG00000017324 uc001vqi.4 L38734 NM_004093 CCDS9507 P52799 7833926 MGI:105097 RGD:1309497 600527 ligandId:4914 HGNC:3227 "ENST00000646441.1|NM_004093.4" HGNC:3228 EFNB3 ephrin B3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 LERK-8 EPH-related receptor tyrosine kinase ligand 8 EPLG8 ephrin-B3 Ephrins 546 1996-03-13 2016-04-05 2023-01-20 1949 ENSG00000108947 OTTHUMG00000108161 uc002gis.4 U57001 NM_001406 CCDS11120 Q15768 9126477 MGI:109196 RGD:2541 602297 ligandId:4915 HGNC:3228 "ENST00000226091.3|NM_001406.4" -HGNC:28970 EFR3A EFR3 homolog A protein-coding gene gene with protein product Approved 8q24.22 08q24.22 KIAA0143 EFR3 homolog A (S. cerevisiae) Armadillo like helical domain containing 1492 2007-11-14 2015-07-02 2023-01-20 23167 ENSG00000132294 OTTHUMG00000150552 uc003yte.4 D63477 NM_015137 "CCDS83328|CCDS34942" Q14156 15363888 MGI:1923990 RGD:1305976 611798 HGNC:28970 "ENST00000254624.10|NM_015137.6" +HGNC:28970 EFR3A EFR3 homolog A protein-coding gene gene with protein product Approved 8q24.22 08q24.22 KIAA0143 EFR3 homolog A (S. cerevisiae) Armadillo like helical domain containing 1492 2007-11-14 2015-07-02 2023-01-20 23167 ENSG00000132294 OTTHUMG00000150552 uc003yte.4 D63477 NM_015137 "CCDS34942|CCDS83328" Q14156 15363888 MGI:1923990 RGD:1305976 611798 HGNC:28970 "ENST00000254624.10|NM_015137.6" HGNC:29155 EFR3B EFR3 homolog B protein-coding gene gene with protein product Approved 2p23.3 02p23.3 FLJ37871 KIAA0953 "KIAA0953|EFR3 homolog B (S. cerevisiae)" Armadillo like helical domain containing 1492 2004-01-14 2007-11-14 2015-07-02 2023-01-20 22979 ENSG00000084710 OTTHUMG00000151988 uc010eyh.4 AB023170 NM_014971 "CCDS46231|CCDS82425" Q9Y2G0 10231032 MGI:2444851 RGD:1310845 616797 HGNC:29155 "ENST00000403714.8|NM_014971.2" -HGNC:16898 EFS embryonal Fyn-associated substrate protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "EFS2|EFS1|HEFS|SIN|CASS3" Cas scaffolding protein family member 3 Cas scaffold proteins 469 2003-01-29 2023-01-20 10278 ENSG00000100842 OTTHUMG00000028741 uc001wjo.5 AB001466 NM_001277174 "CCDS9596|CCDS61404|CCDS9595" O43281 9349509 MGI:105311 RGD:1308966 609906 HGNC:16898 "ENST00000216733.8|NM_005864.4" -HGNC:30858 EFTUD2 elongation factor Tu GTP binding domain containing 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "U5-116KD|Snrp116|Snu114|SNRNP116" "U5 snRNP specific protein, 116 kD|116 kDa U5 small nuclear ribonucleoprotein component" "U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1503|1508|1510|1516" 2005-07-26 2023-01-20 9343 ENSG00000108883 OTTHUMG00000179865 uc002ihn.3 D21163 NM_004247 "CCDS59295|CCDS11489|CCDS45707" Q15029 9233818 MGI:1336880 RGD:1560116 603892 292410 HGNC:30858 "ENST00000426333.7|NM_004247.4" HGNC:30858 -HGNC:3229 EGF epidermal growth factor protein-coding gene gene with protein product Approved 4q25 04q25 Pro-epidermal growth factor epidermal growth factor (beta-urogastrone) 2001-06-22 2010-05-11 2023-01-20 1950 ENSG00000138798 OTTHUMG00000132044 uc003hzy.5 X04571 NM_001178130 "CCDS93566|CCDS3689|CCDS54794|CCDS54795" P01133 MGI:95290 RGD:2542 131530 201089 ligandId:4916 HGNC:3229 "ENST00000265171.10|NM_001963.6" HGNC:3229 +HGNC:16898 EFS embryonal Fyn-associated substrate protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "EFS2|EFS1|HEFS|SIN|CASS3" Cas scaffolding protein family member 3 Cas scaffold proteins 469 2003-01-29 2023-01-20 10278 ENSG00000100842 OTTHUMG00000028741 uc001wjo.5 AB001466 NM_001277174 "CCDS61404|CCDS9595|CCDS9596" O43281 9349509 MGI:105311 RGD:1308966 609906 HGNC:16898 "ENST00000216733.8|NM_005864.4" +HGNC:30858 EFTUD2 elongation factor Tu GTP binding domain containing 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "U5-116KD|Snrp116|Snu114|SNRNP116" "U5 snRNP specific protein, 116 kD|116 kDa U5 small nuclear ribonucleoprotein component" "U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1503|1508|1510|1516" 2005-07-26 2023-01-20 9343 ENSG00000108883 OTTHUMG00000179865 uc002ihn.3 D21163 NM_004247 "CCDS11489|CCDS45707|CCDS59295" Q15029 9233818 MGI:1336880 RGD:1560116 603892 292410 HGNC:30858 "ENST00000426333.7|NM_004247.4" HGNC:30858 +HGNC:3229 EGF epidermal growth factor protein-coding gene gene with protein product Approved 4q25 04q25 Pro-epidermal growth factor epidermal growth factor (beta-urogastrone) 2001-06-22 2010-05-11 2023-01-20 1950 ENSG00000138798 OTTHUMG00000132044 uc003hzy.5 X04571 NM_001178130 "CCDS54794|CCDS93566|CCDS54795|CCDS3689" P01133 MGI:95290 RGD:2542 131530 201089 ligandId:4916 HGNC:3229 "ENST00000265171.10|NM_001963.6" HGNC:3229 HGNC:25149 EGFEM1P EGF like and EMI domain containing 1, pseudogene pseudogene pseudogene Approved 3q26.2 03q26.2 "C3orf50|NCRNA00259" "chromosome 3 open reading frame 50|non-protein coding RNA 259|EGF-like and EMI domain containing 1, pseudogene" 2006-01-16 2010-09-24 2016-01-21 2016-01-21 93556 ENSG00000206120 OTTHUMG00000154721 AF086185 NR_021485 Q0D2K5 12477932 MGI:1922990 HGNC:25149 -HGNC:3235 EGFL6 EGF like domain multiple 6 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MAEG "MAM and EGF domain containing|EGF-like-domain, multiple 6" MicroRNA protein coding host genes 1691 2000-01-28 2016-01-21 2023-01-20 25975 ENSG00000198759 OTTHUMG00000021155 uc004cvi.4 AF186084 NM_015507 "CCDS55370|CCDS14155" Q8IUX8 10610727 MGI:1858599 RGD:1563321 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EGFL6 300239 HGNC:3235 "ENST00000361306.6|NM_015507.4" +HGNC:3235 EGFL6 EGF like domain multiple 6 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MAEG "MAM and EGF domain containing|EGF-like-domain, multiple 6" MicroRNA protein coding host genes 1691 2000-01-28 2016-01-21 2023-01-20 25975 ENSG00000198759 OTTHUMG00000021155 uc004cvi.4 AF186084 NM_015507 "CCDS14155|CCDS55370" Q8IUX8 10610727 MGI:1858599 RGD:1563321 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EGFL6 300239 HGNC:3235 "ENST00000361306.6|NM_015507.4" HGNC:20594 EGFL7 EGF like domain multiple 7 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 ZNEU1 EGF-like-domain, multiple 7 MicroRNA protein coding host genes 1691 2003-05-21 2016-01-21 2023-01-20 51162 ENSG00000172889 OTTHUMG00000020938 uc004cid.3 AF186111 NM_016215 CCDS7002 Q9UHF1 MGI:2449923 RGD:708507 608582 HGNC:20594 "ENST00000308874.12|NM_016215.5" HGNC:13944 EGFL8 EGF like domain multiple 8 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 NG3 C6orf8 "chromosome 6 open reading frame 8|EGF-like-domain, multiple 8" 2002-08-02 2003-05-23 2016-01-21 2023-01-20 80864 ENSG00000241404 OTTHUMG00000031222 uc011jqg.2 U89336 NM_030652 CCDS4743 Q99944 MGI:1932094 RGD:1549706 609897 HGNC:13944 "ENST00000333845.11|NM_030652.4" -HGNC:26810 EGFLAM EGF like, fibronectin type III and laminin G domains protein-coding gene gene with protein product Approved 5p13.2-p13.1 05p13.2-p13.1 "FLJ39155|AGRINL|AGRNL|PIKA" "pikachurin|agrin-like" EGF-like, fibronectin type III and laminin G domains Fibronectin type III domain containing 555 2006-07-19 2016-01-21 2023-03-15 133584 ENSG00000164318 OTTHUMG00000131139 uc003jlb.3 AK097549 NM_152403 "CCDS3925|CCDS3924|CCDS56363|CCDS47199" Q63HQ2 "18641643|20078962|22760553" MGI:2146149 RGD:1306592 617683 HGNC:26810 "ENST00000322350.10|NM_152403.4" +HGNC:26810 EGFLAM EGF like, fibronectin type III and laminin G domains protein-coding gene gene with protein product Approved 5p13.2-p13.1 05p13.2-p13.1 "FLJ39155|AGRINL|AGRNL|PIKA" "pikachurin|agrin-like" EGF-like, fibronectin type III and laminin G domains Fibronectin type III domain containing 555 2006-07-19 2016-01-21 2023-03-15 133584 ENSG00000164318 OTTHUMG00000131139 uc003jlb.3 AK097549 NM_152403 "CCDS3925|CCDS47199|CCDS3924|CCDS56363" Q63HQ2 "18641643|20078962|22760553" MGI:2146149 RGD:1306592 617683 HGNC:26810 "ENST00000322350.10|NM_152403.4" HGNC:41169 EGFLAM-AS1 EGFLAM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 "lncRNA-LOWEG|CTD-2108O9.1" lncRNA low expressed in gastric cancer EGFLAM antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2018-06-20 100874117 ENSG00000249491 OTTHUMG00000162101 uc063dcp.1 NR_046737 "26537802|29603493" EGFLAM-AS1 HGNC:41168 EGFLAM-AS2 EGFLAM antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5p13.2-p13.1 05p13.2-p13.1 EGFLAM antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2018-02-13 100506475 ENSG00000248572 OTTHUMG00000162115 uc031sjf.2 NR_102749 EGFLAM-AS2 HGNC:41168 HGNC:41167 EGFLAM-AS3 EGFLAM antisense RNA 3 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 EGFLAM antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100874116 ENSG00000249071 OTTHUMG00000162108 uc063dcn.1 EGFLAM-AS3 HGNC:41166 EGFLAM-AS4 EGFLAM antisense RNA 4 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 EGFLAM antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100852408 ENSG00000248730 OTTHUMG00000162114 uc031sje.2 BC014585 NR_046219 EGFLAM-AS4 HGNC:41166 -HGNC:3236 EGFR epidermal growth factor receptor protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "ERBB1|ERRP" "erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)|erb-b2 receptor tyrosine kinase 1" ERBB epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) Erb-b2 receptor tyrosine kinases 1096 1986-01-01 2010-06-25 2023-03-15 1956 ENSG00000146648 OTTHUMG00000023661 uc003tqk.4 NM_005228 "CCDS47587|CCDS94105|CCDS5515|CCDS5516|CCDS5514|CCDS87507" P00533 1505215 MGI:95294 RGD:2543 LRG_304|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_304.xml EGFR 131550 121311 objectId:1797 HGNC:3236 "ENST00000275493.7|NM_005228.5" HGNC:3236 +HGNC:3236 EGFR epidermal growth factor receptor protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "ERBB1|ERRP" "erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)|erb-b2 receptor tyrosine kinase 1" ERBB epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) Erb-b2 receptor tyrosine kinases 1096 1986-01-01 2010-06-25 2023-03-15 1956 ENSG00000146648 OTTHUMG00000023661 uc003tqk.4 NM_005228 "CCDS94105|CCDS47587|CCDS5514|CCDS5516|CCDS87507|CCDS5515" P00533 1505215 MGI:95294 RGD:2543 LRG_304|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_304.xml EGFR 131550 121311 objectId:1797 HGNC:3236 "ENST00000275493.7|NM_005228.5" HGNC:3236 HGNC:40207 EGFR-AS1 EGFR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Antisense RNAs 1987 2012-11-06 2017-09-21 100507500 ENSG00000224057 OTTHUMG00000156126 uc003tqo.5 NR_047551 "26271667|28920960" EGFR-AS1 HGNC:40207 HGNC:54482 EGILA EGFR interacting lncRNA non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Lnc-EGFR Long non-coding RNAs with non-systematic symbols 1992 2019-09-27 2020-01-21 116435281 ENSG00000258451 NR_174964 28541302 HGNC:1232 EGLN1 egl-9 family hypoxia inducible factor 1 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "SM-20|PHD2|ZMYND6|HIFPH2" HIF prolyl hydroxylase 2 C1orf12 "EGL nine (C.elegans) homolog 1|egl nine homolog 1 (C. elegans)|egl-9 family hypoxia-inducible factor 1" Zinc fingers MYND-type 87 2000-06-16 2001-08-24 2016-04-05 2023-01-20 54583 ENSG00000135766 OTTHUMG00000038027 uc001huv.2 AJ310543 NM_022051 CCDS1595 Q9GZT9 11056053 MGI:1932286 RGD:631375 606425 171073 objectId:2833 HGNC:1232 "ENST00000366641.4|NM_022051.3" HGNC:1232 HGNC:44481 EGLN1P1 egl-9 family hypoxia inducible factor 1 pseudogene 1 pseudogene pseudogene Approved 15q25.2 15q25.2 egl nine homolog 1 pseudogene 1 2012-11-07 2016-05-03 2016-05-03 106660614 ENSG00000254779 OTTHUMG00000166918 NG_046711 22951037 PGOHUM00000247247 HGNC:44481 HGNC:14660 EGLN2 egl-9 family hypoxia inducible factor 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PHD1|HIFPH1" HIF prolyl hydroxylase 1 egl nine homolog 2 (C. elegans) 2001-08-21 2016-05-03 2023-01-20 112398 ENSG00000269858 OTTHUMG00000182703 uc002opg.5 AJ310544 NM_053046 CCDS12567 Q96KS0 MGI:1932287 RGD:631376 606424 470260 objectId:2832 HGNC:14660 "ENST00000303961.9|NM_080732.4" -HGNC:14661 EGLN3 egl-9 family hypoxia inducible factor 3 protein-coding gene gene with protein product Approved 14q13.1 14q13.1 "PHD3|HIFPH3" HIF prolyl hydroxylase 3 egl nine homolog 3 (C. elegans) 2001-08-21 2016-05-03 2023-01-20 112399 ENSG00000129521 OTTHUMG00000029498 uc001wsa.5 AJ310545 NM_001308103 "CCDS76671|CCDS9646" Q9H6Z9 MGI:1932288 RGD:71019 606426 470262 objectId:2834 HGNC:14661 "ENST00000250457.9|NM_022073.4" +HGNC:14661 EGLN3 egl-9 family hypoxia inducible factor 3 protein-coding gene gene with protein product Approved 14q13.1 14q13.1 "PHD3|HIFPH3" HIF prolyl hydroxylase 3 egl nine homolog 3 (C. elegans) 2001-08-21 2016-05-03 2023-01-20 112399 ENSG00000129521 OTTHUMG00000029498 uc001wsa.5 AJ310545 NM_001308103 "CCDS9646|CCDS76671" Q9H6Z9 MGI:1932288 RGD:71019 606426 470262 objectId:2834 HGNC:14661 "ENST00000250457.9|NM_022073.4" HGNC:49077 EGLN3-AS1 EGLN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q13.1 14q13.1 Antisense RNAs 1987 2013-08-23 2013-08-23 105370445 ENSG00000258897 OTTHUMG00000170577 AA147919 NR_184209 EGLN3-AS1 HGNC:49077 HGNC:49857 EGLN3P1 egl-9 family hypoxia-inducible factor 3 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 2014-03-18 2014-03-18 100420503 ENSG00000256134 OTTHUMG00000168792 NG_023986 PGOHUM00000239360 HGNC:49857 HGNC:37129 EGOT eosinophil granule ontogeny transcript non-coding RNA RNA, long non-coding Approved 3p26.1 03p26.1 "EGO|NCRNA00190" "eosinophil granule ontogeny|non-protein coding RNA 190" eosinophil granule ontogeny transcript (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2009-07-28 2018-05-16 2019-06-07 100126791 ENSG00000235947 OTTHUMG00000156235 uc003bqd.4 BC039547 NR_004428 "17351112|22303364" MGI:5538645 611662 EGO EGOT HGNC:37129 @@ -7579,7 +7580,7 @@ HGNC:3238 EGR1 early growth response 1 protein-coding gene gene with protein pro HGNC:3239 EGR2 early growth response 2 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 Krox-20 homolog, Drosophila KROX20 early growth response 2 (Krox-20 homolog, Drosophila) Zinc fingers C2H2-type 28 1988-08-31 2009-04-23 2023-01-20 1959 ENSG00000122877 OTTHUMG00000018308 uc009xph.4 BC035625 NM_000399 "CCDS91248|CCDS44409|CCDS7267" P11161 MGI:95296 RGD:621608 "Mutation Database of Inherited Peripheral Neuropathies|http://www.molgen.ua.ac.be/CMTMutations|LRG_239|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_239.xml" 129010 121314 HGNC:3239 "ENST00000242480.4|NM_000399.5" HGNC:3239 HGNC:3240 EGR3 early growth response 3 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 PILOT zinc finger protein pilot Zinc fingers C2H2-type 28 1992-07-08 2023-01-20 1960 ENSG00000179388 OTTHUMG00000097825 uc003xcm.2 X63741 NM_004430 "CCDS6033|CCDS56528" Q06889 "1906159|11909874" MGI:1306780 RGD:2545 602419 HGNC:3240 "ENST00000317216.3|NM_004430.3" HGNC:3241 EGR4 early growth response 4 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "NGFI-C|PAT133" Zinc fingers C2H2-type 28 1992-07-27 2023-01-20 1961 ENSG00000135625 OTTHUMG00000129774 uc061kqj.1 NM_001965 CCDS1925 Q05215 1584812 MGI:99252 RGD:2546 128992 HGNC:3241 "ENST00000436467.4|NM_001965.4" -HGNC:29144 EHBP1 EH domain binding protein 1 protein-coding gene gene with protein product Approved 2p15 02p15 "KIAA0903|NACSIN" NT-C2 domain containing 1537 2004-08-26 2023-01-20 23301 ENSG00000115504 OTTHUMG00000129453 uc002sby.4 AL833968 NM_015252 "CCDS46300|CCDS1872|CCDS46299" Q8NDI1 10048485 MGI:2667252 RGD:1310604 609922 HGNC:29144 "ENST00000431489.6|NM_001142616.3" +HGNC:29144 EHBP1 EH domain binding protein 1 protein-coding gene gene with protein product Approved 2p15 02p15 "KIAA0903|NACSIN" NT-C2 domain containing 1537 2004-08-26 2023-01-20 23301 ENSG00000115504 OTTHUMG00000129453 uc002sby.4 AL833968 NM_015252 "CCDS46299|CCDS46300|CCDS1872" Q8NDI1 10048485 MGI:2667252 RGD:1310604 609922 HGNC:29144 "ENST00000431489.6|NM_001142616.3" HGNC:55766 EHBP1-AS1 EHBP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p15 02p15 Antisense RNAs 1987 2021-07-22 2021-07-22 100132215 ENSG00000231609 NR_027069 HGNC:30682 EHBP1L1 EH domain binding protein 1 like 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "DKFZp762C186|TANGERIN" NT-C2 domain containing 1537 2004-08-26 2015-11-10 2023-01-20 254102 ENSG00000173442 OTTHUMG00000166520 uc001oeo.5 AL834433 NM_001099409 CCDS44649 Q8N3D4 MGI:3612340 RGD:1563823 619583 HGNC:30682 "ENST00000309295.9|NM_001099409.3" HGNC:3242 EHD1 EH domain containing 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "H-PAST|HPAST1|FLJ42622|FLJ44618" testilin PAST1 EF-hand domain containing 863 1999-08-11 2015-11-10 2023-01-20 10938 ENSG00000110047 OTTHUMG00000066832 uc001obu.3 AF099011 NM_006795 "CCDS73315|CCDS8084" Q9H4M9 "10395801|10673336" MGI:1341878 RGD:1309017 605888 HGNC:3242 "ENST00000320631.8|NM_006795.4" @@ -7587,13 +7588,13 @@ HGNC:3243 EHD2 EH domain containing 2 protein-coding gene gene with protein prod HGNC:3244 EHD3 EH domain containing 3 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 PAST3 EF-hand domain containing 863 2000-03-22 2015-11-10 2023-01-20 30845 ENSG00000013016 OTTHUMG00000099365 uc002rnu.4 AF181264 NM_014600 CCDS1774 Q9NZN3 10673336 MGI:1928900 RGD:621762 605891 HGNC:3244 "ENST00000322054.10|NM_014600.3" HGNC:3245 EHD4 EH domain containing 4 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 PAST4 EF-hand domain containing 863 2000-03-22 2015-11-10 2023-01-20 30844 ENSG00000103966 OTTHUMG00000130370 uc001zot.4 AF181265 NM_139265 CCDS10081 Q9H223 "10673336|11533061" MGI:1919619 RGD:628883 605892 HGNC:3245 "ENST00000220325.9|NM_139265.4" HGNC:51418 EHD4-AS1 EHD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 Antisense RNAs 1987 2014-11-21 2014-11-21 101928363 ENSG00000259883 OTTHUMG00000172723 "CF887666|CF891641" NR_120332 EHD4-AS1 HGNC:51418 -HGNC:3246 EHF ETS homologous factor protein-coding gene gene with protein product Approved 11p13 11p13 "ESE3|ESEJ" "epithelium-specific ets factor 3|ESE3 transcription factor" ets homologous factor ETS transcription factor family 534 1999-02-17 2016-02-24 2023-01-20 26298 ENSG00000135373 OTTHUMG00000166454 uc001mvr.3 AF170583 NM_012153 "CCDS7894|CCDS55753|CCDS55752" Q9NZC4 10527851 MGI:1270840 RGD:1310282 605439 HGNC:3246 "ENST00000257831.8|NM_012153.6" -HGNC:3247 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase protein-coding gene gene with protein product Approved 3q27.2 03q27.2 ECHD enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase MicroRNA protein coding host genes 1691 1993-06-25 2016-08-09 2023-01-20 1962 ENSG00000113790 OTTHUMG00000156698 uc003fpf.3 L07077 NM_001166415 "CCDS33901|CCDS54694" Q08426 8188243 MGI:1277964 RGD:621441 607037 159556 "4.2.1.17|1.1.1.35|5.3.3.8" HGNC:3247 "ENST00000231887.8|NM_001966.4" HGNC:3247 +HGNC:3246 EHF ETS homologous factor protein-coding gene gene with protein product Approved 11p13 11p13 "ESE3|ESEJ" "epithelium-specific ets factor 3|ESE3 transcription factor" ets homologous factor ETS transcription factor family 534 1999-02-17 2016-02-24 2023-01-20 26298 ENSG00000135373 OTTHUMG00000166454 uc001mvr.3 AF170583 NM_012153 "CCDS7894|CCDS55752|CCDS55753" Q9NZC4 10527851 MGI:1270840 RGD:1310282 605439 HGNC:3246 "ENST00000257831.8|NM_012153.6" +HGNC:3247 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase protein-coding gene gene with protein product Approved 3q27.2 03q27.2 ECHD enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase MicroRNA protein coding host genes 1691 1993-06-25 2016-08-09 2023-01-20 1962 ENSG00000113790 OTTHUMG00000156698 uc003fpf.3 L07077 NM_001166415 "CCDS54694|CCDS33901" Q08426 8188243 MGI:1277964 RGD:621441 607037 159556 "4.2.1.17|1.1.1.35|5.3.3.8" HGNC:3247 "ENST00000231887.8|NM_001966.4" HGNC:3247 HGNC:44133 EHHADH-AS1 EHHADH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.2 03q27.2 EHHADH antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 339926 ENSG00000223358 OTTHUMG00000156697 uc003fpe.3 BC047598 NR_038990 EHHADH-AS1 HGNC:44133 -HGNC:24650 EHMT1 euchromatic histone lysine methyltransferase 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "Eu-HMTase1|FLJ12879|KIAA1876|bA188C12.1|KMT1D|FLJ40292|GLP" EHMT1-IT1 "euchromatic histone methyltransferase 1|EHMT1 intronic transcript 1" "Ankyrin repeat domain containing|Lysine methyltransferases|SET domain containing" "403|487|1399" 2004-06-01 2016-05-04 2023-01-20 79813 ENSG00000181090 OTTHUMG00000020995 uc011mfc.3 AY083210 NM_024757 "CCDS56595|CCDS87721|CCDS7050" Q9H9B1 "11347906|12004135|17962312" MGI:1924933 RGD:1307588 607001 226051 objectId:2651 2.1.1.43 HGNC:24650 "ENST00000460843.6|NM_024757.5" HGNC:24650 -HGNC:14129 EHMT2 euchromatic histone lysine methyltransferase 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G9A|Em:AF134726.3|NG36/G9a|KMT1C" "C6orf30|BAT8" "chromosome 6 open reading frame 30|HLA-B associated transcript 8" "Ankyrin repeat domain containing|Lysine methyltransferases|SET domain containing" "403|487|1399" 2001-07-09 2005-06-09 2016-05-04 2023-01-20 10919 ENSG00000204371 OTTHUMG00000031180 uc011don.2 AF134726 NM_006709 "CCDS87384|CCDS4725|CCDS75425|CCDS4726" Q96KQ7 "8457211|11316813" MGI:2148922 RGD:1302972 604599 objectId:2652 2.1.1.43 HGNC:14129 "ENST00000375537.9|NM_006709.5" +HGNC:24650 EHMT1 euchromatic histone lysine methyltransferase 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "Eu-HMTase1|FLJ12879|KIAA1876|bA188C12.1|KMT1D|FLJ40292|GLP" EHMT1-IT1 "euchromatic histone methyltransferase 1|EHMT1 intronic transcript 1" "Ankyrin repeat domain containing|Lysine methyltransferases|SET domain containing" "403|487|1399" 2004-06-01 2016-05-04 2023-01-20 79813 ENSG00000181090 OTTHUMG00000020995 uc011mfc.3 AY083210 NM_024757 "CCDS7050|CCDS56595|CCDS87721" Q9H9B1 "11347906|12004135|17962312" MGI:1924933 RGD:1307588 607001 226051 objectId:2651 2.1.1.43 HGNC:24650 "ENST00000460843.6|NM_024757.5" HGNC:24650 +HGNC:14129 EHMT2 euchromatic histone lysine methyltransferase 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G9A|Em:AF134726.3|NG36/G9a|KMT1C" "C6orf30|BAT8" "chromosome 6 open reading frame 30|HLA-B associated transcript 8" "Ankyrin repeat domain containing|Lysine methyltransferases|SET domain containing" "403|487|1399" 2001-07-09 2005-06-09 2016-05-04 2023-01-20 10919 ENSG00000204371 OTTHUMG00000031180 uc011don.2 AF134726 NM_006709 "CCDS4725|CCDS4726|CCDS75425|CCDS87384" Q96KQ7 "8457211|11316813" MGI:2148922 RGD:1302972 604599 objectId:2652 2.1.1.43 HGNC:14129 "ENST00000375537.9|NM_006709.5" HGNC:39751 EHMT2-AS1 EHMT2 and SLC44A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 "EHMT2 antisense RNA 1 (non-protein coding)|EHMT2 antisense RNA 1" Antisense RNAs 1987 2011-04-21 2017-08-09 2021-07-02 107986588 ENSG00000237080 OTTHUMG00000057535 uc063nix.1 NR_174947 EHMT2-AS1 -HGNC:13276 EI24 EI24 autophagy associated transmembrane protein protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "PIG8|TP53I8|EPG4" ectopic P-granules autophagy protein 4 homolog (C. elegans) "etoposide induced 2.4 mRNA|etoposide induced 2.4" 2003-03-19 2019-01-21 2023-01-20 9538 ENSG00000149547 OTTHUMG00000165851 uc031yiu.2 AF010313 NM_004879 "CCDS81643|CCDS73410|CCDS76493" O14681 "10594026|9305847" MGI:108090 RGD:1309868 605170 HGNC:13276 "ENST00000278903.11|NM_004879.5" +HGNC:13276 EI24 EI24 autophagy associated transmembrane protein protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "PIG8|TP53I8|EPG4" ectopic P-granules autophagy protein 4 homolog (C. elegans) "etoposide induced 2.4 mRNA|etoposide induced 2.4" 2003-03-19 2019-01-21 2023-01-20 9538 ENSG00000149547 OTTHUMG00000165851 uc031yiu.2 AF010313 NM_004879 "CCDS81643|CCDS76493|CCDS73410" O14681 "10594026|9305847" MGI:108090 RGD:1309868 605170 HGNC:13276 "ENST00000278903.11|NM_004879.5" HGNC:44586 EI24P1 EI24 pseudogene 1 pseudogene pseudogene Approved 3q26.32 03q26.32 etoposide induced 2.4 pseudogene 1 2012-11-19 2019-01-21 2019-01-21 100129423 ENSG00000236357 OTTHUMG00000157142 NG_030107 PGOHUM00000299278 HGNC:44586 HGNC:44587 EI24P2 EI24 pseudogene 2 pseudogene pseudogene Approved 1q23.1 01q23.1 etoposide induced 2.4 pseudogene 2 2012-11-19 2019-01-21 2019-01-21 100129866 ENSG00000236257 OTTHUMG00000017519 NG_022809 PGOHUM00000296596 HGNC:44587 HGNC:44588 EI24P3 EI24 pseudogene 3 pseudogene pseudogene Approved 3p21.31 03p21.31 etoposide induced 2.4 pseudogene 3 2012-11-19 2019-01-21 2019-01-21 100131881 ENSG00000214825 OTTHUMG00000156451 NG_022202 PGOHUM00000299014 HGNC:44588 @@ -7610,7 +7611,7 @@ HGNC:3250 EIF1AX eukaryotic translation initiation factor 1A X-linked protein-co HGNC:40208 EIF1AX-AS1 EIF1AX antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.12 Xp22.12 EIF1AX antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2022-04-29 100874078 ENSG00000225037 OTTHUMG00000021229 uc033dsh.2 NR_046592 35080085 EIF1AX-AS1 HGNC:40208 HGNC:19900 EIF1AXP1 EIF1AX pseudogene 1 pseudogene pseudogene Approved 1p36.13 01p36.13 EIF1AP1 "eukaryotic translation initiation factor 1A pseudogene 1|eukaryotic translation initiation factor 1A, X-linked pseudogene 1" 2002-11-29 2009-12-02 2018-04-26 2018-04-26 280661 ENSG00000236698 OTTHUMG00000002579 AL021920 NG_002419 HGNC:19900 HGNC:44295 EIF1AXP2 EIF1AX pseudogene 2 pseudogene pseudogene Approved 14q23.3 14q23.3 eukaryotic translation initiation factor 1A, X-linked pseudogene 2 2012-08-08 2018-04-26 2018-04-26 106479036 ENSG00000258980 OTTHUMG00000171171 NG_044391 PGOHUM00000247832 HGNC:44295 -HGNC:3252 EIF1AY eukaryotic translation initiation factor 1A Y-linked protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 eukaryotic translation initiation factor 1A, Y chromosome 1999-04-23 2018-04-26 2023-01-20 9086 ENSG00000198692 OTTHUMG00000036544 uc004fuk.5 AF000987 NM_004681 "CCDS14795|CCDS65368" O14602 9381176 MGI:1913485 400014 HGNC:3252 "ENST00000361365.7|NM_004681.4" +HGNC:3252 EIF1AY eukaryotic translation initiation factor 1A Y-linked protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 eukaryotic translation initiation factor 1A, Y chromosome 1999-04-23 2018-04-26 2023-01-20 9086 ENSG00000198692 OTTHUMG00000036544 uc004fuk.5 AF000987 NM_004681 "CCDS14795|CCDS65368" O14602 9381176 MGI:1913485 RGD:1306331 400014 HGNC:3252 "ENST00000361365.7|NM_004681.4" HGNC:30792 EIF1B eukaryotic translation initiation factor 1B protein-coding gene gene with protein product Approved 3p22.1 03p22.1 GC20 2006-02-02 2023-01-20 10289 ENSG00000114784 OTTHUMG00000131388 uc003ckc.5 BC006996 NM_005875 CCDS2690 O60739 7904817 MGI:1916219 RGD:1309241 HGNC:30792 "ENST00000232905.4|NM_005875.3" HGNC:44555 EIF1B-AS1 EIF1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 FLJ33065 Antisense RNAs 1987 2012-11-15 2012-11-15 440952 ENSG00000280739 OTTHUMG00000189530 uc003ckb.4 "AK309874|BC045736" NR_033965 EIF1B-AS1 HGNC:44555 HGNC:49614 EIF1P1 eukaryotic translation initiation factor 1 pseudogene 1 pseudogene pseudogene Approved 9p24.3 09p24.3 2014-01-24 2014-01-24 100505855 ENSG00000229875 OTTHUMG00000019432 NG_030090 PGOHUM00000236353 HGNC:49614 @@ -7620,10 +7621,10 @@ HGNC:49617 EIF1P4 eukaryotic translation initiation factor 1 pseudogene 4 pseudo HGNC:49618 EIF1P5 eukaryotic translation initiation factor 1 pseudogene 5 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-01-24 2014-01-24 106481690 ENSG00000266563 OTTHUMG00000178972 NG_043125 PGOHUM00000263414 HGNC:49618 HGNC:49619 EIF1P6 eukaryotic translation initiation factor 1 pseudogene 6 pseudogene pseudogene Approved 19p13.3 19p13.3 2014-01-24 2014-01-24 106480277 ENSG00000267938 OTTHUMG00000181916 NG_045130 PGOHUM00000234120 HGNC:49619 HGNC:49620 EIF1P7 eukaryotic translation initiation factor 1 pseudogene 7 pseudogene pseudogene Approved 2p25.1 02p25.1 2014-01-24 2014-01-24 106481691 ENSG00000213772 OTTHUMG00000159105 NG_045021 PGOHUM00000263480 HGNC:49620 -HGNC:3254 EIF2A eukaryotic translation initiation factor 2A protein-coding gene gene with protein product Approved 3q25.1 03q25.1 EIF-2A eukaryotic translation initiation factor 2A, 65kDa WD repeat domain containing 362 1991-03-04 2015-11-09 2023-01-20 83939 ENSG00000144895 OTTHUMG00000159775 uc003eya.4 AF212241 NM_032025 "CCDS82860|CCDS46935|CCDS82859|CCDS82861" Q9BY44 "12133843|1620067" MGI:1098684 RGD:1589591 609234 HGNC:3254 "ENST00000460851.6|NM_032025.5" +HGNC:3254 EIF2A eukaryotic translation initiation factor 2A protein-coding gene gene with protein product Approved 3q25.1 03q25.1 EIF-2A eukaryotic translation initiation factor 2A, 65kDa WD repeat domain containing 362 1991-03-04 2015-11-09 2023-01-20 83939 ENSG00000144895 OTTHUMG00000159775 uc003eya.4 AF212241 NM_032025 "CCDS82860|CCDS82861|CCDS46935|CCDS82859" Q9BY44 "12133843|1620067" MGI:1098684 RGD:1589591 609234 HGNC:3254 "ENST00000460851.6|NM_032025.5" HGNC:24921 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "HRI|KIAA1369|hHRI|HCR" "heme regulated initiation factor 2 alpha kinase|Heme-regulated inhibitor|hemin-controlled repressor" Eukaryotic translation initiation factor 2 alpha kinases 2124 2005-01-19 2015-11-27 2023-01-20 27102 ENSG00000086232 OTTHUMG00000090689 uc003spp.4 BC006524 NM_014413 CCDS5345 Q9BQI3 "7709427|10718198|32197074" MGI:1353448 RGD:70883 613635 objectId:2015 2.7.11.1 HGNC:24921 "ENST00000199389.11|NM_014413.4" HGNC:24921 HGNC:56553 EIF2AK1P1 EIF2AK1 pseudogene 1 pseudogene pseudogene Approved 3q23 03q23 2022-10-31 2022-10-31 731755 ENSG00000242479 NG_022277 -HGNC:9437 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "PKR|PPP1R83" "protein phosphatase 1, regulatory subunit 83|Protein Kinase RNA-activated|protein kinase RNA-regulated|Protein Kinase R" PRKR protein kinase, interferon-inducible double stranded RNA dependent "Protein phosphatase 1 regulatory subunits|Eukaryotic translation initiation factor 2 alpha kinases" "694|2124" 1992-12-04 2005-01-19 2015-11-27 2023-01-20 5610 ENSG00000055332 OTTHUMG00000100962 uc010fac.4 BC057805 NM_002759 "CCDS1786|CCDS46259" P19525 "1351683|32197074" MGI:1353449 RGD:3402 176871 objectId:2016 "2.7.11.1|2.7.10.2" HGNC:9437 "ENST00000233057.9|NM_001135651.3" HGNC:9437 +HGNC:9437 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "PKR|PPP1R83" "protein phosphatase 1, regulatory subunit 83|Protein Kinase RNA-activated|protein kinase RNA-regulated|Protein Kinase R" PRKR protein kinase, interferon-inducible double stranded RNA dependent "Protein phosphatase 1 regulatory subunits|Eukaryotic translation initiation factor 2 alpha kinases" "694|2124" 1992-12-04 2005-01-19 2015-11-27 2023-01-20 5610 ENSG00000055332 OTTHUMG00000100962 uc010fac.4 BC057805 NM_002759 "CCDS46259|CCDS1786" P19525 "1351683|32197074" MGI:1353449 RGD:3402 176871 objectId:2016 "2.7.11.1|2.7.10.2" HGNC:9437 "ENST00000233057.9|NM_001135651.3" HGNC:9437 HGNC:3255 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "PEK|PERK" "PRKR-like endoplasmic reticulum kinase|pancreatic eIF-2alpha kinase|PKR-like ER kinase" Eukaryotic translation initiation factor 2 alpha kinases 2124 1999-06-14 2015-11-27 2023-03-15 9451 ENSG00000172071 OTTHUMG00000155046 uc002stc.5 AF110146 NM_004836 CCDS33241 Q9NZJ5 "10026192|10575235|20202148" MGI:1341830 RGD:70884 LRG_1024|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1024.xml 604032 121317 objectId:2017 2.7.11.1 HGNC:3255 "ENST00000303236.9|NM_004836.7" HGNC:3255 HGNC:54066 EIF2AK3-DT EIF2AK3 divergent transcript non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Divergent transcripts 1990 2018-09-27 2018-09-27 101928403 ENSG00000234028 NR_135540 HGNC:54066 HGNC:19687 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "GCN2|KIAA1338" eIF-2-alpha kinase Eukaryotic translation initiation factor 2 alpha kinases 2124 2002-11-11 2023-01-20 440275 ENSG00000128829 OTTHUMG00000172403 uc001zkm.2 AB037759 NM_001013703 CCDS42016 Q9P2K8 "10504407|24292273" MGI:1353427 RGD:1311439 609280 391627 objectId:2018 HGNC:19687 "ENST00000263791.10|NM_001013703.4" HGNC:19687 @@ -7633,7 +7634,7 @@ HGNC:39497 EIF2AP3 eukaryotic translation initiation factor 2A pseudogene 3 pseu HGNC:39498 EIF2AP4 eukaryotic translation initiation factor 2A pseudogene 4 pseudogene pseudogene Approved 10q11.21 10q11.21 2011-01-20 2014-11-18 100874401 ENSG00000227395 OTTHUMG00000018059 NG_032311 PGOHUM00000238759 HGNC:39498 HGNC:3257 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "EIF-2Balpha|EIF-2B|EIF2BA|EIF2Balpha" EIF2B "eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)|eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa" 1991-03-04 2015-11-16 2023-01-20 1967 ENSG00000111361 OTTHUMG00000168696 uc001ufm.4 X95648 NM_001414 CCDS31924 Q14232 15776425 MGI:2384802 RGD:620819 606686 121320 HGNC:3257 "ENST00000424014.7|NM_001414.4" HGNC:3257 HGNC:3258 EIF2B2 eukaryotic translation initiation factor 2B subunit beta protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "EIF2B|EIF-2Bbeta|EIF2Bbeta" "eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)|eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa" 1998-10-16 2015-11-16 2023-01-20 8892 ENSG00000119718 OTTHUMG00000171764 uc001xrc.3 NM_014239 CCDS9836 P49770 8887689 MGI:2145118 RGD:620820 606454 121326 HGNC:3258 "ENST00000266126.10|NM_014239.4" HGNC:3258 -HGNC:3259 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "EIF2Bgamma|EIF-2B" "eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)|eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa" 1998-10-16 2015-11-16 2023-01-20 8891 ENSG00000070785 OTTHUMG00000008585 uc001cmt.4 AF257077 NM_020365 "CCDS72775|CCDS53313|CCDS517" Q9NR50 10900014 MGI:1313286 RGD:620821 606273 121330 HGNC:3259 "ENST00000360403.7|NM_020365.5" HGNC:3259 +HGNC:3259 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "EIF2Bgamma|EIF-2B" "eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)|eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa" 1998-10-16 2015-11-16 2023-01-20 8891 ENSG00000070785 OTTHUMG00000008585 uc001cmt.4 AF257077 NM_020365 "CCDS53313|CCDS72775|CCDS517" Q9NR50 10900014 MGI:1313286 RGD:620821 606273 121330 HGNC:3259 "ENST00000360403.7|NM_020365.5" HGNC:3259 HGNC:3260 EIF2B4 eukaryotic translation initiation factor 2B subunit delta protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "EIF2Bdelta|EIF-2B|DKFZP586J0119|EIF2B" "eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)|eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa" 1998-10-16 2015-11-16 2023-01-20 8890 ENSG00000115211 OTTHUMG00000151927 uc002rkb.4 AJ011306 NM_001034116 Q9UI10 "8929216|7982969" MGI:95300 RGD:620208 606687 121334 HGNC:3260 "ENST00000347454.9|NM_001034116.2" HGNC:3260 HGNC:3261 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "EIF2Bepsilon|EIF-2B" "eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)|eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa" 1998-10-16 2015-11-16 2023-01-20 8893 ENSG00000145191 OTTHUMG00000156840 uc003fmp.4 U23028 NM_003907 CCDS3252 Q13144 8688466 MGI:2446176 RGD:708380 LRG_1278|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1278.xml 603945 121340 HGNC:3261 "ENST00000648915.2|NM_003907.3" HGNC:3261 HGNC:55202 EIF2B5-DT EIF2B5 divergent transcript non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 Divergent transcripts 1990 2020-08-21 2020-08-21 105374249 ENSG00000272721 NR_183718 @@ -7648,7 +7649,7 @@ HGNC:37793 EIF2S2P5 eukaryotic translation initiation factor 2 subunit 2 beta ps HGNC:37794 EIF2S2P6 eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 6 pseudogene pseudogene Approved 11q14.1 11q14.1 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 6 2010-02-24 2015-12-16 2020-04-06 100129629 ENSG00000254441 OTTHUMG00000166928 NG_022982 PGOHUM00000242822 HGNC:37794 HGNC:37795 EIF2S2P7 eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 7 pseudogene pseudogene Approved 2p16.1 02p16.1 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 7 2010-02-24 2015-12-16 2020-01-21 647016 ENSG00000271115 NG_021500 PGOHUM00000240049 HGNC:37795 HGNC:3267 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "EIF2gamma|EIF2" eukaryotic translation initiation factor 2G EIF2G "eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)|eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa" 1994-09-06 2015-11-16 2023-01-20 1968 ENSG00000130741 OTTHUMG00000021262 uc004dbc.5 L19161 NM_001415 CCDS14210 P41091 "8106381|9736774" MGI:1349431 RGD:1561279 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EIF2S3 300161 470266 HGNC:3267 "ENST00000253039.9|NM_001415.4" HGNC:3267 -HGNC:43863 EIF2S3B eukaryotic translation initiation factor 2 subunit gamma B protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "eIF2gA|eIF-2-gamma2" eukaryotic translation initiation factor 2 subunit gamma A 2017-11-30 2023-01-20 255308 ENSG00000180574 OTTHUMG00000168585 NM_001357731 "CCDS91654|CCDS86282" Q2VIR3 16201836 MGI:1349431 RGD:2314438 HGNC:43863 "ENST00000538173.2|NM_001357734.3" +HGNC:43863 EIF2S3B eukaryotic translation initiation factor 2 subunit gamma B protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "eIF2gA|eIF-2-gamma2" eukaryotic translation initiation factor 2 subunit gamma A 2017-11-30 2023-01-20 255308 ENSG00000180574 OTTHUMG00000168585 NM_001357731 "CCDS86282|CCDS91654" Q2VIR3 16201836 MGI:1349431 RGD:2314438 HGNC:43863 "ENST00000538173.2|NM_001357734.3" HGNC:3271 EIF3A eukaryotic translation initiation factor 3 subunit A protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "eIF3-theta|eIF3-p170|KIAA0139|TIF32" "EIF3|EIF3S10" "eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa|eukaryotic translation initiation factor 3, subunit A" "Eukaryotic translation initiation factor 3|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes" "1121|1492|1835" 1998-11-26 2007-07-27 2015-12-04 2023-01-20 8661 ENSG00000107581 OTTHUMG00000019144 uc001ldu.4 U78311 NM_003750 CCDS7608 Q14152 "9054404|8590280" MGI:95301 RGD:1307269 602039 HGNC:3271 "ENST00000369144.8|NM_003750.4" HGNC:3280 EIF3B eukaryotic translation initiation factor 3 subunit B protein-coding gene gene with protein product Approved 7p22.3 07p22.3 PRT1 protein synthesis 1 EIF3S9 "eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa|eukaryotic translation initiation factor 3, subunit B" "RNA binding motif containing|Eukaryotic translation initiation factor 3|Armadillo like helical domain containing" "725|1121|1492" 1998-11-26 2007-07-27 2015-12-04 2023-01-20 8662 ENSG00000106263 OTTHUMG00000022839 uc003sly.4 U62583 NM_001037283 CCDS5332 P55884 8995410 MGI:106478 RGD:1309018 603917 HGNC:3280 "ENST00000360876.9|NM_001037283.2" HGNC:3279 EIF3C eukaryotic translation initiation factor 3 subunit C protein-coding gene gene with protein product Approved 16p11.2 16p11.2 eIF3-p110 EIF3S8 "eukaryotic translation initiation factor 3, subunit 8, 110kDa|eukaryotic translation initiation factor 3, subunit C" "Eukaryotic translation initiation factor 3|MicroRNA protein coding host genes" "1121|1691" 1998-11-26 2007-07-27 2015-12-04 2023-01-20 8663 ENSG00000184110 OTTHUMG00000099443 uc010byi.4 U46025 NM_003752 "CCDS10638|CCDS66993" Q99613 8995409 MGI:1926966 RGD:1308871 603916 HGNC:3279 "ENST00000331666.11|NM_003752.5" @@ -7665,18 +7666,18 @@ HGNC:28863 EIF3FP2 eukaryotic translation initiation factor 3 subunit F pseudoge HGNC:37625 EIF3FP3 eukaryotic translation initiation factor 3 subunit F pseudogene 3 pseudogene pseudogene Approved 2p16.1 02p16.1 eukaryotic translation initiation factor 3, subunit F pseudogene 3 2009-11-25 2015-12-04 2015-12-04 339799 ENSG00000233426 OTTHUMG00000152112 NG_006949.2 HGNC:37625 HGNC:3274 EIF3G eukaryotic translation initiation factor 3 subunit G protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "eIF3-delta|eIF3-p44" EIF3S4 "eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa|eukaryotic translation initiation factor 3, subunit G" "RNA binding motif containing|Eukaryotic translation initiation factor 3" "725|1121" 1998-11-26 2007-07-27 2015-12-04 2023-01-20 8666 ENSG00000130811 OTTHUMG00000180396 uc002mnd.4 U96074 NM_003755 CCDS12227 O75821 9822659 MGI:1858258 RGD:1307191 603913 HGNC:3274 "ENST00000253108.9|NM_003755.5" HGNC:3273 EIF3H eukaryotic translation initiation factor 3 subunit H protein-coding gene gene with protein product Approved 8q23.3-q24.11 08q23.3-q24.11 "eIF3-gamma|eIF3-p40" EIF3S3 "eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa|eukaryotic translation initiation factor 3, subunit H" "JAMM/MPN+ metallopeptidase family|Eukaryotic translation initiation factor 3" "999|1121" 1998-11-26 2007-07-27 2015-12-04 2023-01-20 8667 ENSG00000147677 OTTHUMG00000164919 uc003yoa.4 U54559 NM_003756 CCDS6319 O15372 9341143 MGI:1915385 RGD:735178 603912 470268 HGNC:3273 "ENST00000521861.6|NM_003756.3" -HGNC:3272 EIF3I eukaryotic translation initiation factor 3 subunit I protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "TRIP-1|eIF3-beta|eIF3-p36" EIF3S2 "eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa|eukaryotic translation initiation factor 3, subunit I" "WD repeat domain containing|Eukaryotic translation initiation factor 3" "362|1121" 1998-11-26 2007-07-27 2015-12-04 2023-01-20 8668 ENSG00000084623 OTTHUMG00000007364 uc009vuc.4 U39067 NM_003757 "CCDS90907|CCDS357" Q13347 "7566156|8995409" MGI:1860763 RGD:1584560 603911 HGNC:3272 "ENST00000677711.2|NM_003757.4" +HGNC:3272 EIF3I eukaryotic translation initiation factor 3 subunit I protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "TRIP-1|eIF3-beta|eIF3-p36" EIF3S2 "eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa|eukaryotic translation initiation factor 3, subunit I" "WD repeat domain containing|Eukaryotic translation initiation factor 3" "362|1121" 1998-11-26 2007-07-27 2015-12-04 2023-01-20 8668 ENSG00000084623 OTTHUMG00000007364 uc009vuc.4 U39067 NM_003757 "CCDS357|CCDS90907" Q13347 "7566156|8995409" MGI:1860763 RGD:1584560 603911 HGNC:3272 "ENST00000677711.2|NM_003757.4" HGNC:13277 EIF3IP1 eukaryotic translation initiation factor 3 subunit I pseudogene 1 pseudogene pseudogene Approved 7q31.1 07q31.1 RG208K23 eukaryotic translation initiation factor 3, subunit I pseudogene 1 2007-08-02 2015-12-04 2016-10-05 442720 ENSG00000237064 OTTHUMG00000155015 NR_003024 PGOHUM00000302392 HGNC:13277 -HGNC:3270 EIF3J eukaryotic translation initiation factor 3 subunit J protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "eIF3-p35|eIF3-alpha" EIF3S1 "eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa|eukaryotic translation initiation factor 3, subunit J" Eukaryotic translation initiation factor 3 1121 1998-11-26 2007-07-27 2015-12-04 2023-01-20 8669 ENSG00000104131 OTTHUMG00000131158 uc001ztv.4 U97670 NM_003758 "CCDS61612|CCDS61613|CCDS10111" O75822 9822659 MGI:1925905 RGD:1593338 603910 HGNC:3270 "ENST00000261868.10|NM_003758.4" +HGNC:3270 EIF3J eukaryotic translation initiation factor 3 subunit J protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "eIF3-p35|eIF3-alpha" EIF3S1 "eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa|eukaryotic translation initiation factor 3, subunit J" Eukaryotic translation initiation factor 3 1121 1998-11-26 2007-07-27 2015-12-04 2023-01-20 8669 ENSG00000104131 OTTHUMG00000131158 uc001ztv.4 U97670 NM_003758 "CCDS10111|CCDS61613|CCDS61612" O75822 9822659 MGI:1925905 RGD:1593338 603910 HGNC:3270 "ENST00000261868.10|NM_003758.4" HGNC:48616 EIF3J-DT EIF3J divergent transcript non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 EIF3J-AS1 EIF3J antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-24 2018-03-22 2018-03-22 2018-03-22 645212 ENSG00000179523 OTTHUMG00000171875 NR_034170 EIF3J-AS1 HGNC:48616 HGNC:55005 EIF3JP1 EIF3J pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 117981790 ENSG00000228041 NR_170311 HGNC:56558 EIF3JP2 EIF3J pseudogene 2 pseudogene pseudogene Approved 3q25.1 03q25.1 2022-11-02 2022-11-02 730021 ENSG00000240477 NG_022279 PGOHUM00000299627 HGNC:56559 EIF3JP3 EIF3J pseudogene 3 pseudogene pseudogene Approved 9q21.33 09q21.33 2022-11-02 2022-11-02 649166 ENSG00000237747 NG_021665 PGOHUM00000304361 -HGNC:24656 EIF3K eukaryotic translation initiation factor 3 subunit K protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PRO1474|HSPC029|PTD001|PLAC-24|M9|ARG134" EIF3S12 "eukaryotic translation initiation factor 3, subunit 12|eukaryotic translation initiation factor 3, subunit K" Eukaryotic translation initiation factor 3 1121 2005-01-10 2007-07-27 2015-12-04 2023-01-20 27335 ENSG00000178982 OTTHUMG00000180865 uc002oiz.2 AB019392 NM_013234 "CCDS12517|CCDS77293|CCDS74360" Q9UBQ5 "11042152|14519125" MGI:1921080 RGD:1309221 609596 HGNC:24656 "ENST00000248342.9|NM_013234.4" +HGNC:24656 EIF3K eukaryotic translation initiation factor 3 subunit K protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PRO1474|HSPC029|PTD001|PLAC-24|M9|ARG134" EIF3S12 "eukaryotic translation initiation factor 3, subunit 12|eukaryotic translation initiation factor 3, subunit K" Eukaryotic translation initiation factor 3 1121 2005-01-10 2007-07-27 2015-12-04 2023-01-20 27335 ENSG00000178982 OTTHUMG00000180865 uc002oiz.2 AB019392 NM_013234 "CCDS12517|CCDS74360|CCDS77293" Q9UBQ5 "11042152|14519125" MGI:1921080 RGD:1309221 609596 HGNC:24656 "ENST00000248342.9|NM_013234.4" HGNC:44016 EIF3KP1 eukaryotic translation initiation factor 3 subunit K pseudogene 1 pseudogene pseudogene Approved 5q21.1 05q21.1 eukaryotic translation initiation factor 3, subunit K pseudogene 1 2012-05-28 2015-12-04 2015-12-04 134505 ENSG00000175749 OTTHUMG00000162879 NG_029444 PGOHUM00000235721 HGNC:44016 HGNC:44017 EIF3KP2 eukaryotic translation initiation factor 3 subunit K pseudogene 2 pseudogene pseudogene Approved 3p24.2 03p24.2 eukaryotic translation initiation factor 3, subunit K pseudogene 2 2012-05-28 2015-12-04 2015-12-04 100129045 ENSG00000233544 OTTHUMG00000155682 NG_022242 PGOHUM00000237962 HGNC:44017 HGNC:44018 EIF3KP3 eukaryotic translation initiation factor 3 subunit K pseudogene 3 pseudogene pseudogene Approved 4q26 04q26 eukaryotic translation initiation factor 3, subunit K pseudogene 3 2012-05-28 2015-12-04 2015-12-04 645368 ENSG00000250442 OTTHUMG00000161077 NG_022029 PGOHUM00000245665 HGNC:44018 -HGNC:18138 EIF3L eukaryotic translation initiation factor 3 subunit L protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "HSPC021|HSPC025|EIF3S11" "EIF3S6IP|EIF3EIP" "eukaryotic translation initiation factor 3, subunit 6 interacting protein|eukaryotic translation initiation factor 3, subunit E interacting protein|eukaryotic translation initiation factor 3, subunit L" Eukaryotic translation initiation factor 3 1121 2002-02-19 2009-01-07 2015-12-04 2023-01-20 51386 ENSG00000100129 OTTHUMG00000150671 uc003auf.3 AF083243 NM_016091 "CCDS13960|CCDS87024|CCDS56230" Q9Y262 "11042152|11590142" MGI:2386251 RGD:1308230 619197 HGNC:18138 "ENST00000652021.1|NM_016091.4" +HGNC:18138 EIF3L eukaryotic translation initiation factor 3 subunit L protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "HSPC021|HSPC025|EIF3S11" "EIF3S6IP|EIF3EIP" "eukaryotic translation initiation factor 3, subunit 6 interacting protein|eukaryotic translation initiation factor 3, subunit E interacting protein|eukaryotic translation initiation factor 3, subunit L" Eukaryotic translation initiation factor 3 1121 2002-02-19 2009-01-07 2015-12-04 2023-01-20 51386 ENSG00000100129 OTTHUMG00000150671 uc003auf.3 AF083243 NM_016091 "CCDS56230|CCDS13960|CCDS87024" Q9Y262 "11042152|11590142" MGI:2386251 RGD:1308230 619197 HGNC:18138 "ENST00000652021.1|NM_016091.4" HGNC:20010 EIF3LP1 eukaryotic translation initiation factor 3 subunit L pseudogene 1 pseudogene pseudogene Approved 14q31.1 14q31.1 "EIF3S6IPP|EIF3EIPP1" "eukaryotic translation initiation factor 3, subunit 6 interacting protein pseudogene|eukaryotic translation initiation factor 3, subunit E interacting protein pseudogene 1|eukaryotic translation initiation factor 3, subunit L pseudogene 1" 2003-01-13 2009-01-07 2015-12-04 2015-12-04 319117 ENSG00000258501 OTTHUMG00000171402 NG_002498 PGOHUM00000264216 HGNC:20010 HGNC:24657 EIF3LP2 eukaryotic translation initiation factor 3 subunit L pseudogene 2 pseudogene pseudogene Approved 10q11.21 10q11.21 "EIF3S6IPP2|EIF3EIPP2" "eukaryotic translation initiation factor 3, subunit 6 interacting protein pseudogene 2|eukaryotic translation initiation factor 3, subunit E interacting protein pseudogene 2|eukaryotic translation initiation factor 3, subunit L pseudogene 2" 2004-05-27 2009-01-07 2015-12-04 2015-12-04 143341 ENSG00000233837 OTTHUMG00000018013 AL022345 NG_001544 PGOHUM00000238751 HGNC:24657 HGNC:44976 EIF3LP3 eukaryotic translation initiation factor 3 subunit L pseudogene 3 pseudogene pseudogene Approved 10p11.1 10p11.1 eukaryotic translation initiation factor 3, subunit L pseudogene 3 2012-12-20 2015-12-04 2015-12-04 340947 ENSG00000226086 OTTHUMG00000017986 NG_022143 PGOHUM00000238414 HGNC:44976 @@ -7702,9 +7703,9 @@ HGNC:45099 EIF4A2P2 eukaryotic translation initiation factor 4A2 pseudogene 2 ps HGNC:45100 EIF4A2P3 eukaryotic translation initiation factor 4A2 pseudogene 3 pseudogene pseudogene Approved 11q12.1 11q12.1 2013-02-15 2014-10-07 100133309 ENSG00000254589 OTTHUMG00000167464 NG_021786 PGOHUM00000290527 HGNC:45100 HGNC:45101 EIF4A2P4 eukaryotic translation initiation factor 4A2 pseudogene 4 pseudogene pseudogene Approved Xp11.22 Xp11.22 2013-02-15 2014-10-07 286512 ENSG00000224781 OTTHUMG00000021588 NG_022602 PGOHUM00000304633 HGNC:45101 HGNC:45102 EIF4A2P5 eukaryotic translation initiation factor 4A2 pseudogene 5 pseudogene pseudogene Approved 11p13 11p13 2013-02-15 2014-10-07 106480446 ENSG00000255490 OTTHUMG00000166234 NG_043426 PGOHUM00000290862 HGNC:45102 -HGNC:18683 EIF4A3 eukaryotic translation initiation factor 4A3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA0111|EIF4AIII|Fal1" DDX48 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 48|eukaryotic translation initiation factor 4A, isoform 3" "DEAD-box helicases|Exon junction complex|SSU processome|Spliceosomal Bact complex|Spliceosomal P complex" "499|1238|1484|1508|1516" 2003-06-13 2006-11-27 2010-02-10 2023-01-20 9775 ENSG00000141543 OTTHUMG00000177538 uc002jxs.3 BC004386 NM_014740 "CCDS92411|CCDS11767" P38919 "10623621|14730019" MGI:1923731 RGD:1591139 LRG_1284|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1284.xml 608546 390756 HGNC:18683 "ENST00000649764.2|NM_014740.4" HGNC:18683 +HGNC:18683 EIF4A3 eukaryotic translation initiation factor 4A3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA0111|EIF4AIII|Fal1" DDX48 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 48|eukaryotic translation initiation factor 4A, isoform 3" "DEAD-box helicases|Exon junction complex|SSU processome|Spliceosomal Bact complex|Spliceosomal P complex" "499|1238|1484|1508|1516" 2003-06-13 2006-11-27 2010-02-10 2023-01-20 9775 ENSG00000141543 OTTHUMG00000177538 uc002jxs.3 BC004386 NM_014740 "CCDS11767|CCDS92411" P38919 "10623621|14730019" MGI:1923731 RGD:1591139 LRG_1284|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1284.xml 608546 390756 HGNC:18683 "ENST00000649764.2|NM_014740.4" HGNC:18683 HGNC:51460 EIF4A3P1 eukaryotic translation initiation factor 4A3 pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 EIF4A3 pseudogene 1 2014-11-28 2015-04-07 2015-04-07 390843 ENSG00000266181 OTTHUMG00000179490 NG_022484 PGOHUM00000294628 HGNC:51460 -HGNC:3285 EIF4B eukaryotic translation initiation factor 4B protein-coding gene gene with protein product Approved 12q13.13 12q13.13 RNA binding motif containing 725 1991-03-04 2023-01-20 1975 ENSG00000063046 OTTHUMG00000169570 uc001sbh.5 X55733 NM_001417 "CCDS86303|CCDS73474|CCDS41788" P23588 MGI:95304 RGD:1306479 603928 HGNC:3285 "ENST00000262056.14|NM_001417.7" +HGNC:3285 EIF4B eukaryotic translation initiation factor 4B protein-coding gene gene with protein product Approved 12q13.13 12q13.13 RNA binding motif containing 725 1991-03-04 2023-01-20 1975 ENSG00000063046 OTTHUMG00000169570 uc001sbh.5 X55733 NM_001417 "CCDS73474|CCDS41788|CCDS86303" P23588 MGI:95304 RGD:1306479 603928 HGNC:3285 "ENST00000262056.14|NM_001417.7" HGNC:19929 EIF4BP1 eukaryotic translation initiation factor 4B pseudogene 1 pseudogene pseudogene Approved 14q21.2 14q21.2 EIF4BP eukaryotic translation initiation factor 4B pseudogene 2003-01-13 2010-03-11 2010-03-11 2014-11-28 319118 ENSG00000259019 OTTHUMG00000170683 NG_002499 PGOHUM00000292338 HGNC:19929 HGNC:37935 EIF4BP2 eukaryotic translation initiation factor 4B pseudogene 2 pseudogene pseudogene Approved 10p12.31 10p12.31 2010-03-11 2014-11-28 100129337 ENSG00000228753 OTTHUMG00000017785 NG_017092 PGOHUM00000290060 HGNC:37935 HGNC:37936 EIF4BP3 eukaryotic translation initiation factor 4B pseudogene 3 pseudogene pseudogene Approved 9q22.32 09q22.32 2010-03-11 2014-11-28 100128771 ENSG00000224546 OTTHUMG00000020290 XR_037860 PGOHUM00000304399 HGNC:37936 @@ -7714,12 +7715,12 @@ HGNC:37939 EIF4BP6 eukaryotic translation initiation factor 4B pseudogene 6 pseu HGNC:37940 EIF4BP7 eukaryotic translation initiation factor 4B pseudogene 7 pseudogene pseudogene Approved Xq23 Xq23 2010-03-11 2014-11-28 643873 ENSG00000225031 OTTHUMG00000022206 XR_039149 PGOHUM00000304801 HGNC:37940 HGNC:37941 EIF4BP8 eukaryotic translation initiation factor 4B pseudogene 8 pseudogene pseudogene Approved 3q21.1 03q21.1 2010-03-11 2014-11-28 339881 ENSG00000243918 OTTHUMG00000159551 XR_078291 PGOHUM00000299557 HGNC:37941 HGNC:37942 EIF4BP9 eukaryotic translation initiation factor 4B pseudogene 9 pseudogene pseudogene Approved Xq12 Xq12 2010-03-11 2014-11-28 100129692 ENSG00000237294 OTTHUMG00000021731 NG_022999 PGOHUM00000304676 HGNC:37942 -HGNC:3287 EIF4E eukaryotic translation initiation factor 4E protein-coding gene gene with protein product Approved 4q23 04q23 EIF4E1 "EIF4EL1|EIF4F" 1991-07-09 2023-01-20 1977 ENSG00000151247 OTTHUMG00000161090 uc003hue.3 M15353 NM_001968 "CCDS47109|CCDS82940|CCDS34031|CCDS54779" P06730 "9330633|1916814" MGI:95305 RGD:69647 133440 225299 HGNC:3287 "ENST00000450253.7|NM_001968.5" +HGNC:3287 EIF4E eukaryotic translation initiation factor 4E protein-coding gene gene with protein product Approved 4q23 04q23 EIF4E1 "EIF4EL1|EIF4F" 1991-07-09 2023-01-20 1977 ENSG00000151247 OTTHUMG00000161090 uc003hue.3 M15353 NM_001968 "CCDS54779|CCDS34031|CCDS47109|CCDS82940" P06730 "9330633|1916814" MGI:95305 RGD:69647 133440 225299 HGNC:3287 "ENST00000450253.7|NM_001968.5" HGNC:33179 EIF4E1B eukaryotic translation initiation factor 4E family member 1B protein-coding gene gene with protein product Approved 5q35.2 05q35.2 FLJ36951 2006-11-13 2023-01-20 253314 ENSG00000175766 OTTHUMG00000163227 uc010jkf.1 NM_001099408 CCDS47345 A6NMX2 16191198 MGI:2685119 RGD:1585494 HGNC:33179 "ENST00000318682.11|NM_001099408.2" -HGNC:3293 EIF4E2 eukaryotic translation initiation factor 4E family member 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "IF4e|4EHP" EIF4EL3 eukaryotic translation initiation factor 4E-like 3 1999-07-22 2004-10-30 2006-11-13 2023-03-14 9470 ENSG00000135930 OTTHUMG00000133256 uc002vta.5 AF038957 NM_004846 "CCDS82579|CCDS92971|CCDS63158|CCDS74671|CCDS2496|CCDS63159" O60573 "9653160|9582349|32726578" MGI:1914440 RGD:1307790 605895 HGNC:3293 "ENST00000258416.8|NM_004846.4" +HGNC:3293 EIF4E2 eukaryotic translation initiation factor 4E family member 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "IF4e|4EHP" EIF4EL3 eukaryotic translation initiation factor 4E-like 3 1999-07-22 2004-10-30 2006-11-13 2023-03-14 9470 ENSG00000135930 OTTHUMG00000133256 uc002vta.5 AF038957 NM_004846 "CCDS63159|CCDS82579|CCDS74671|CCDS63158|CCDS2496|CCDS92971" O60573 "9653160|9582349|32726578" MGI:1914440 RGD:1307790 605895 HGNC:3293 "ENST00000258416.8|NM_004846.4" HGNC:16237 EIF4E2P1 eukaryotic translation initiation factor 4E family member 2 pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ1049G11.3 EIF4EL4 eukaryotic translation initiation factor 4E-like 4 2001-07-17 2004-10-30 2006-11-13 2014-11-28 128770 ENSG00000213384 OTTHUMG00000032008 NG_005202 PGOHUM00000297065 HGNC:16237 HGNC:51464 EIF4E2P2 eukaryotic translation initiation factor 4E family member 2 pseudogene 2 pseudogene pseudogene Approved 3q13.31 03q13.31 2014-11-28 2014-11-28 645207 ENSG00000244157 OTTHUMG00000159302 NG_022265 PGOHUM00000299541 HGNC:51464 -HGNC:31837 EIF4E3 eukaryotic translation initiation factor 4E family member 3 protein-coding gene gene with protein product Approved 3p13 03p13 MGC39820 eukaryotic translation initiation factor 4E member 3 2004-10-29 2006-11-13 2023-01-20 317649 ENSG00000163412 OTTHUMG00000158797 uc003dov.5 AK126999 NM_173359 "CCDS33786|CCDS46867" Q8N5X7 15153109 MGI:1914142 RGD:1586185 609896 HGNC:31837 "ENST00000425534.8|NM_001134651.2" +HGNC:31837 EIF4E3 eukaryotic translation initiation factor 4E family member 3 protein-coding gene gene with protein product Approved 3p13 03p13 MGC39820 eukaryotic translation initiation factor 4E member 3 2004-10-29 2006-11-13 2023-01-20 317649 ENSG00000163412 OTTHUMG00000158797 uc003dov.5 AK126999 NM_173359 "CCDS46867|CCDS33786" Q8N5X7 15153109 MGI:1914142 RGD:1586185 609896 HGNC:31837 "ENST00000425534.8|NM_001134651.2" HGNC:3288 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "PHAS-I|4E-BP1" phosphorylated heat- and acid-stable protein regulated by insulin 1 1996-10-26 2023-01-20 1978 ENSG00000187840 OTTHUMG00000164012 uc003xks.4 NM_004095 CCDS6100 Q13541 7935836 MGI:103267 RGD:620259 602223 HGNC:3288 "ENST00000338825.5|NM_004095.4" HGNC:20160 EIF4EBP1P1 eukaryotic translation initiation factor 4E binding protein 1 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 EIF4EBP1P eukaryotic translation initiation factor 4E binding protein 1 pseudogene 2003-01-13 2012-05-29 2012-05-29 2014-11-28 326295 ENSG00000258870 OTTHUMG00000170805 NG_002547 PGOHUM00000292580 HGNC:20160 HGNC:44047 EIF4EBP1P2 eukaryotic translation initiation factor 4E binding protein 1 pseudogene 2 pseudogene pseudogene Approved 22q11.23 alternate reference locus 22q11.23 alternate reference locus 2012-05-29 2012-05-29 2014-10-10 768328 KI270879 NG_005781 PGOHUM00000246533 @@ -7734,14 +7735,14 @@ HGNC:32428 EIF4EP2 eukaryotic translation initiation factor 4E pseudogene 2 pseu HGNC:51461 EIF4EP3 eukaryotic translation initiation factor 4E pseudogene 3 pseudogene pseudogene Approved 3q26.33 03q26.33 2014-11-28 2014-11-28 100132918 ENSG00000244199 OTTHUMG00000158292 NG_022231 PGOHUM00000299294 HGNC:51461 HGNC:51462 EIF4EP4 eukaryotic translation initiation factor 4E pseudogene 4 pseudogene pseudogene Approved 7q21.11 07q21.11 2014-11-28 2014-11-28 100421455 ENSG00000232968 OTTHUMG00000155411 NG_026487 PGOHUM00000302332 HGNC:51462 HGNC:51463 EIF4EP5 eukaryotic translation initiation factor 4E pseudogene 5 pseudogene pseudogene Approved 8p22 08p22 2014-11-28 2014-11-28 100131565 ENSG00000214366 OTTHUMG00000165492 NG_008899 PGOHUM00000303463 HGNC:51463 -HGNC:3296 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "p220|PARK18" "EIF4G|EIF4F" eukaryotic translation initiation factor 4 gamma, 1 "Small nucleolar RNA protein coding host genes|MIF4G domain containing proteins" "1835|2128" 1993-06-17 2016-02-03 2023-01-20 1981 ENSG00000114867 OTTHUMG00000156784 uc003fnp.4 D12686 NM_182917 "CCDS54688|CCDS3261|CCDS54687|CCDS77866|CCDS46970|CCDS3260|CCDS3259" Q04637 "1429670|9372926|21907011" MGI:2384784 RGD:1306144 600495 285068 HGNC:3296 "ENST00000346169.7|NM_198241.3" HGNC:3296 -HGNC:3297 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "DAP5|NAT1|p97" eukaryotic translation initiation factor 4 gamma, 2 "Small nucleolar RNA protein coding host genes|MIF4G domain containing proteins" "1835|2128" 1998-02-17 2016-02-03 2023-01-20 1982 ENSG00000110321 OTTHUMG00000165823 uc057zbi.1 U73824 NM_001418 "CCDS41618|CCDS31428" P78344 "9030685|9032289" MGI:109207 RGD:1305294 602325 HGNC:3297 "ENST00000339995.11|NM_001418.4" -HGNC:3298 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 eIF4GII eukaryotic translation initiation factor 4 gamma, 3 "MicroRNA protein coding host genes|MIF4G domain containing proteins" "1691|2128" 1998-11-30 2016-02-03 2023-01-20 8672 ENSG00000075151 OTTHUMG00000002624 uc057daj.1 AF012072 NM_003760 "CCDS72723|CCDS90876|CCDS214|CCDS59192|CCDS55580|CCDS90875" O43432 9418880 MGI:1923935 RGD:1311370 603929 HGNC:3298 "ENST00000602326.6|NM_001391906.1" +HGNC:3296 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "p220|PARK18" "EIF4G|EIF4F" eukaryotic translation initiation factor 4 gamma, 1 "Small nucleolar RNA protein coding host genes|MIF4G domain containing proteins" "1835|2128" 1993-06-17 2016-02-03 2023-01-20 1981 ENSG00000114867 OTTHUMG00000156784 uc003fnp.4 D12686 NM_182917 "CCDS3261|CCDS46970|CCDS54688|CCDS3260|CCDS77866|CCDS54687|CCDS3259" Q04637 "1429670|9372926|21907011" MGI:2384784 RGD:1306144 600495 285068 HGNC:3296 "ENST00000346169.7|NM_198241.3" HGNC:3296 +HGNC:3297 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "DAP5|NAT1|p97" eukaryotic translation initiation factor 4 gamma, 2 "Small nucleolar RNA protein coding host genes|MIF4G domain containing proteins" "1835|2128" 1998-02-17 2016-02-03 2023-01-20 1982 ENSG00000110321 OTTHUMG00000165823 uc057zbi.1 U73824 NM_001418 "CCDS31428|CCDS41618" P78344 "9030685|9032289" MGI:109207 RGD:1305294 602325 HGNC:3297 "ENST00000339995.11|NM_001418.4" +HGNC:3298 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 eIF4GII eukaryotic translation initiation factor 4 gamma, 3 "MicroRNA protein coding host genes|MIF4G domain containing proteins" "1691|2128" 1998-11-30 2016-02-03 2023-01-20 8672 ENSG00000075151 OTTHUMG00000002624 uc057daj.1 AF012072 NM_003760 "CCDS72723|CCDS55580|CCDS214|CCDS59192|CCDS90876|CCDS90875" O43432 9418880 MGI:1923935 RGD:1311370 603929 HGNC:3298 "ENST00000602326.6|NM_001391906.1" HGNC:12741 EIF4H eukaryotic translation initiation factor 4H protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WSCR1|KIAA0038" WBSCR1 Williams-Beuren syndrome chromosome region 1 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 1997-09-12 2006-11-27 2006-11-27 2023-01-20 7458 ENSG00000106682 OTTHUMG00000023025 uc003uad.2 NM_022170 "CCDS5565|CCDS5564" Q15056 "9516461|15078951" MGI:1341822 RGD:1359222 603431 HGNC:12741 "ENST00000265753.13|NM_022170.2" HGNC:49035 EIF4HP1 eukaryotic translation initiation factor 4H pseudogene 1 pseudogene pseudogene Approved 7p15.2 07p15.2 2013-08-15 2014-11-28 401316 ENSG00000233830 OTTHUMG00000152711 NG_004756 PGOHUM00000302081 HGNC:49035 HGNC:49036 EIF4HP2 eukaryotic translation initiation factor 4H pseudogene 2 pseudogene pseudogene Approved 22q12.2 22q12.2 2013-08-15 2014-11-28 100421545 ENSG00000237977 OTTHUMG00000151158 NG_027477 PGOHUM00000297738 HGNC:49036 HGNC:3299 EIF5 eukaryotic translation initiation factor 5 protein-coding gene gene with protein product Approved 14q32.32 14q32.32 Small nucleolar RNA protein coding host genes 1835 1991-03-04 2023-01-20 1983 ENSG00000100664 OTTHUMG00000171839 uc001ymq.5 U49436 NM_001969 CCDS9980 P55010 8663286 MGI:95309 RGD:619861 601710 HGNC:3299 "ENST00000216554.8|NM_001969.5" -HGNC:56080 EIF5-DT EIF5 divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.32 14q32.32 Divergent transcripts 1990 2021-12-15 2021-12-15 123706522 ENSG00000259775 +HGNC:56080 EIF5-DT EIF5 divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.32 14q32.32 Divergent transcripts 1990 2021-12-15 2021-12-15 105370687 ENSG00000259775 NR_158216 HGNC:3300 EIF5A eukaryotic translation initiation factor 5A protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "EIF5A1|EIF-5A|MGC99547|MGC104255" 1991-03-04 2023-01-20 1984 ENSG00000132507 OTTHUMG00000102197 uc010vtv.3 NM_001970 "CCDS45601|CCDS11099" P63241 7759117 MGI:106248 RGD:1308029 600187 HGNC:3300 "ENST00000336458.13|NM_001970.5" HGNC:3301 EIF5A2 eukaryotic translation initiation factor 5A2 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 2000-08-11 2023-01-20 56648 ENSG00000163577 OTTHUMG00000158958 uc003fhd.4 AF293386 NM_020390 CCDS3214 Q9GZV4 MGI:1933735 RGD:1306196 605782 HGNC:3301 "ENST00000295822.7|NM_020390.6" HGNC:51467 EIF5A2P1 eukaryotic translation initiation factor 5A2 pseudogene 1 pseudogene pseudogene Approved 15q23 15q23 2014-11-28 2014-11-28 100506058 ENSG00000260576 OTTHUMG00000172845 NG_030230 PGOHUM00000293002 HGNC:51467 @@ -7752,22 +7753,22 @@ HGNC:31442 EIF5AP4 eukaryotic translation initiation factor 5A pseudogene 4 pseu HGNC:30793 EIF5B eukaryotic translation initiation factor 5B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "IF2|KIAA0741|DKFZp434I036|FLJ10524" translation initiation factor IF2 2004-01-09 2023-01-20 9669 ENSG00000158417 OTTHUMG00000153242 uc002tab.4 AF078035 NM_015904 CCDS42721 O60841 "10200264|10432305" MGI:2441772 RGD:735017 606086 HGNC:30793 "ENST00000289371.11|NM_015904.4" HGNC:51465 EIF5P1 eukaryotic translation initiation factor 5 pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 2014-11-28 2014-11-28 100421390 ENSG00000215319 OTTHUMG00000021119 NG_026657 PGOHUM00000304508 HGNC:51465 HGNC:51466 EIF5P2 eukaryotic translation initiation factor 5 pseudogene 2 pseudogene pseudogene Approved Xp22.12 Xp22.12 2014-11-28 2014-11-28 100421391 ENSG00000275800 OTTHUMG00000188005 NG_026664 PGOHUM00000304527 HGNC:51466 -HGNC:6159 EIF6 eukaryotic translation initiation factor 6 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "p27BBP|b(2)gcn" "EIF3A|ITGB4BP" integrin beta 4 binding protein Ribosomal biogenesis factors 1729 1998-03-24 2007-07-27 2007-07-27 2023-01-20 3692 ENSG00000242372 OTTHUMG00000032328 uc002xbx.3 Y11435 NM_002212 "CCDS13249|CCDS13250" P56537 "9374518|9740680" MGI:1196288 RGD:1305373 602912 HGNC:6159 "ENST00000374450.8|NM_002212.4" HGNC:6159 +HGNC:6159 EIF6 eukaryotic translation initiation factor 6 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "p27BBP|b(2)gcn" "EIF3A|ITGB4BP" integrin beta 4 binding protein Ribosomal biogenesis factors 1729 1998-03-24 2007-07-27 2007-07-27 2023-01-20 3692 ENSG00000242372 OTTHUMG00000032328 uc002xbx.3 Y11435 NM_002212 "CCDS13250|CCDS13249" P56537 "9374518|9740680" MGI:1196288 RGD:1305373 602912 HGNC:6159 "ENST00000374450.8|NM_002212.4" HGNC:6159 HGNC:12383 EIPR1 EARP complex and GARP complex interacting protein 1 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 EIPR-1 TSSC1 tumor suppressing subtransferable candidate 1 WD repeat domain containing 362 1998-06-22 2017-05-09 2017-05-09 2023-01-20 7260 ENSG00000032389 OTTHUMG00000090329 uc002qxj.3 AF019952 NM_003310 "CCDS82416|CCDS1651" Q53HC9 "9403053|9925925" MGI:1289332 RGD:1305817 608998 HGNC:12383 "ENST00000382125.9|NM_003310.5" HGNC:41392 EIPR1-IT1 EIPR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 TSSC1-IT1 "TSSC1 intronic transcript 1 (non-protein coding)|TSSC1 intronic transcript 1" Intronic transcripts 1989 2011-05-19 2017-05-09 2017-05-09 2017-05-09 100874301 ENSG00000224885 OTTHUMG00000151430 uc061gdt.1 TSSC1-IT1 HGNC:14197 ELAC1 elaC ribonuclease Z 1 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 D29 "tRNA Z (short form)|RNaseZ(S)" "elaC (E. coli) homolog 1|elaC homolog 1 (E. coli)" "MBL fold containing DNA/RNA interacting subfamily|Endoribonucleases" "1615|1687" 2000-12-12 2013-05-24 2023-01-20 55520 ENSG00000141642 OTTHUMG00000132695 uc002lez.4 AB029151 NM_018696 CCDS11949 Q9H777 "12711671|21559454" MGI:1890495 RGD:1304757 608079 3.1.26.11 HGNC:14197 "ENST00000269466.8|NM_018696.3" -HGNC:14198 ELAC2 elaC ribonuclease Z 2 protein-coding gene gene with protein product Approved 17p12 17p12 "FLJ10530|HPC2" tRNase Z (long form) "elaC (E. coli) homolog 2|elaC homolog 2 (E. coli)" "MBL fold containing DNA/RNA interacting subfamily|Endoribonucleases" "1615|1687" 2000-12-14 2013-05-24 2023-01-20 60528 ENSG00000006744 OTTHUMG00000058764 uc002gnz.5 AF304370 NM_001165962 "CCDS11164|CCDS54093" Q9BQ52 "10986046|16636667|21559454" MGI:1890496 RGD:628882 605367 121513 3.1.26.11 HGNC:14198 "ENST00000338034.9|NM_018127.7" HGNC:14198 +HGNC:14198 ELAC2 elaC ribonuclease Z 2 protein-coding gene gene with protein product Approved 17p12 17p12 "FLJ10530|HPC2" tRNase Z (long form) "elaC (E. coli) homolog 2|elaC homolog 2 (E. coli)" "MBL fold containing DNA/RNA interacting subfamily|Endoribonucleases" "1615|1687" 2000-12-14 2013-05-24 2023-01-20 60528 ENSG00000006744 OTTHUMG00000058764 uc002gnz.5 AF304370 NM_001165962 "CCDS54093|CCDS11164" Q9BQ52 "10986046|16636667|21559454" MGI:1890496 RGD:628882 605367 121513 3.1.26.11 HGNC:14198 "ENST00000338034.9|NM_018127.7" HGNC:14198 HGNC:3309 ELANE elastase, neutrophil expressed protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "NE|HNE|HLE|PMN-E" "neutrophil elastase|leukocyte elastase|medullasin|PMN Elastase|polymorphonuclear leukocyte elastase" ELA2 elastase 2, neutrophil "Granule associated serine proteases of immune defence|Complement system regulators and receptors" "1636|1639" 1989-09-08 2009-05-05 2009-05-05 2023-01-20 1991 ENSG00000197561 OTTHUMG00000181839 uc002lqb.4 NM_001972 CCDS12045 P08246 2902087 MGI:2679229 RGD:1307968 "ELA2base: Mutation registry for Cyclic and congenital neutropenia|http://structure.bmc.lu.se/idbase/ELA2base/|LRG_57|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_57.xml" 130130 121511 S01.131 objectId:2358 3.4.21.37 HGNC:3309 "ENST00000263621.2|NM_001972.4" HGNC:3309 HGNC:29618 ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "maba1|EIG121" estrogen induced gene 121 KIAA1324 KIAA1324 2005-05-17 2020-02-28 2020-02-28 2023-01-20 57535 ENSG00000116299 OTTHUMG00000011725 uc021orb.2 AK057647 NM_020775 "CCDS794|CCDS58015" Q6UXG2 "10718198|16322283|21072319" MGI:1923930 RGD:1310209 611298 HGNC:29618 "ENST00000369939.8|NM_020775.5" -HGNC:21945 ELAPOR2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "FLJ31340|EIG121L" EIG121-like KIAA1324L KIAA1324 like 2005-05-17 2020-02-28 2020-02-28 2023-01-20 222223 ENSG00000164659 OTTHUMG00000153995 uc011kha.4 AK055902 NM_152748 "CCDS47632|CCDS34677" A8MWY0 21177533 MGI:2443264 RGD:1563349 614048 HGNC:21945 "ENST00000450689.7|NM_001142749.3" +HGNC:21945 ELAPOR2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "FLJ31340|EIG121L" EIG121-like KIAA1324L KIAA1324 like 2005-05-17 2020-02-28 2020-02-28 2023-01-20 222223 ENSG00000164659 OTTHUMG00000153995 uc011kha.4 AK055902 NM_152748 "CCDS34677|CCDS47632" A8MWY0 21177533 MGI:2443264 RGD:1563349 614048 HGNC:21945 "ENST00000450689.7|NM_001142749.3" HGNC:3312 ELAVL1 ELAV like RNA binding protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HuR|Hua|MelG" "embryonic lethal, abnormal vision, drosophila, homolog-like 1|Hu antigen R" HUR ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) RNA binding motif containing 725 1996-08-12 2013-10-03 2023-01-20 1994 ENSG00000066044 OTTHUMG00000182470 uc060ssp.1 U38175 NM_001419 CCDS12193 Q15717 "8626503|9003489" MGI:1100851 RGD:1308649 603466 HGNC:3312 "ENST00000407627.7|NM_001419.3" -HGNC:3313 ELAVL2 ELAV like RNA binding protein 2 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "HuB|HEL-N1" Hu antigen B "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)|ELAV like neuron-specific RNA binding protein 2" RNA binding motif containing 725 1996-11-15 2016-08-22 2023-01-20 1993 ENSG00000107105 OTTHUMG00000019700 uc003zpu.4 BC030692 NM_004432 "CCDS55298|CCDS6515|CCDS87645" Q12926 8812435 MGI:1100887 RGD:628611 601673 HGNC:3313 "ENST00000397312.7|NM_004432.5" +HGNC:3313 ELAVL2 ELAV like RNA binding protein 2 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "HuB|HEL-N1" Hu antigen B "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)|ELAV like neuron-specific RNA binding protein 2" RNA binding motif containing 725 1996-11-15 2016-08-22 2023-01-20 1993 ENSG00000107105 OTTHUMG00000019700 uc003zpu.4 BC030692 NM_004432 "CCDS87645|CCDS6515|CCDS55298" Q12926 8812435 MGI:1100887 RGD:628611 601673 HGNC:3313 "ENST00000397312.7|NM_004432.5" HGNC:3314 ELAVL3 ELAV like RNA binding protein 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HUC|PLE21|DKFZp547J036|HUCL|MGC20653" "Hu antigen C|paraneoplastic limbic encephalitis antigen 21|paraneoplastic cerebellar degeneration-associated antigen|ELAV-like protein 3" "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)|ELAV like neuron-specific RNA binding protein 3" RNA binding motif containing 725 1997-07-04 2016-08-22 2023-01-20 1995 ENSG00000196361 OTTHUMG00000182030 uc002mry.2 NM_001420 "CCDS45978|CCDS32912" Q14576 9799595 MGI:109157 RGD:628892 603458 HGNC:3314 "ENST00000359227.8|NM_001420.4" -HGNC:3315 ELAVL4 ELAV like RNA binding protein 4 protein-coding gene gene with protein product Approved 1p33-p32.3 01p33-p32.3 PNEM Hu antigen D HUD "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4|ELAV like neuron-specific RNA binding protein 4" RNA binding motif containing 725 1993-07-12 2016-08-22 2023-01-20 1996 ENSG00000162374 OTTHUMG00000007877 uc010omz.3 AY033998 NM_021952 "CCDS44140|CCDS53315|CCDS44139|CCDS81321|CCDS90949|CCDS90950|CCDS553|CCDS72788|CCDS44138" P26378 8222755 MGI:107427 RGD:1560027 168360 HGNC:3315 "ENST00000371824.7|NM_001144774.3" +HGNC:3315 ELAVL4 ELAV like RNA binding protein 4 protein-coding gene gene with protein product Approved 1p33-p32.3 01p33-p32.3 PNEM Hu antigen D HUD "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4|ELAV like neuron-specific RNA binding protein 4" RNA binding motif containing 725 1993-07-12 2016-08-22 2023-01-20 1996 ENSG00000162374 OTTHUMG00000007877 uc010omz.3 AY033998 NM_021952 "CCDS53315|CCDS72788|CCDS44139|CCDS44138|CCDS44140|CCDS90949|CCDS90950|CCDS81321|CCDS553" P26378 8222755 MGI:107427 RGD:1560027 168360 HGNC:3315 "ENST00000371824.7|NM_001144774.3" HGNC:40210 ELAVL4-AS1 ELAVL4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 Antisense RNAs 1987 2019-07-25 2019-07-25 107984955 ENSG00000237337 OTTHUMG00000007879 XR_001738045 HGNC:40210 HGNC:49511 ELDR EGFR long non-coding downstream RNA non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Fabl LINC01156 long intergenic non-protein coding RNA 1156 Long non-coding RNAs with non-systematic symbols 1992 2014-01-01 2014-05-20 2014-05-20 2019-06-07 102725541 ENSG00000280890 OTTHUMG00000189565 DB084610 NR_110426 26034286 MGI:1919985 618217 HGNC:49511 HGNC:3316 ELF1 E74 like ETS transcription factor 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 E74-like factor 1 (ets domain transcription factor) ETS transcription factor family 534 1995-03-23 2016-02-25 2023-01-20 1997 ENSG00000120690 OTTHUMG00000016783 uc001uxs.4 M82882 NM_172373 "CCDS9374|CCDS45043" P32519 1545787 MGI:107180 RGD:620697 189973 HGNC:3316 "ENST00000239882.7|NM_172373.4" -HGNC:3317 ELF2 E74 like ETS transcription factor 2 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "EU32|NERF|NERF-2|NERF-1A|NERF-1B" E74-like factor 2 (ets domain transcription factor) ETS transcription factor family 534 1996-04-12 2016-02-25 2023-01-20 1998 ENSG00000109381 OTTHUMG00000133383 uc003ihp.2 AF256222 NM_006874 "CCDS82954|CCDS3745|CCDS64062|CCDS3744|CCDS64063" Q15723 8756667 MGI:1916507 RGD:1310585 619798 HGNC:3317 "ENST00000686138.1|NM_001331036.3" +HGNC:3317 ELF2 E74 like ETS transcription factor 2 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "EU32|NERF|NERF-2|NERF-1A|NERF-1B" E74-like factor 2 (ets domain transcription factor) ETS transcription factor family 534 1996-04-12 2016-02-25 2023-01-20 1998 ENSG00000109381 OTTHUMG00000133383 uc003ihp.2 AF256222 NM_006874 "CCDS3744|CCDS3745|CCDS64062|CCDS82954|CCDS64063" Q15723 8756667 MGI:1916507 RGD:1310585 619798 HGNC:3317 "ENST00000686138.1|NM_001331036.3" HGNC:33539 ELF2P1 ELF2 pseudogene 1 pseudogene pseudogene Approved Xq22.2 Xq22.2 E74-like factor 2 pseudogene 1 2007-07-25 2019-02-18 2020-06-03 100101917 ENSG00000234345 NG_006555 HGNC:33539 HGNC:24610 ELF2P2 ELF2 pseudogene 2 pseudogene pseudogene Approved 6p25.3 06p25.3 E74-like factor 2 pseudogene 2 2007-07-25 2019-02-18 2019-02-18 260335 AF256220 NG_002340 9001422 HGNC:24610 HGNC:24611 ELF2P3 ELF2 pseudogene 3 pseudogene pseudogene Approved 9q22.1 09q22.1 E74-like factor 2 pseudogene 3 2007-07-25 2019-02-18 2019-02-18 260336 ENSG00000232743 OTTHUMG00000020153 NG_002341 9001422 PGOHUM00000304363 HGNC:24611 @@ -7775,7 +7776,7 @@ HGNC:33540 ELF2P4 ELF2 pseudogene 4 pseudogene pseudogene Approved 2q32.1 02q32. HGNC:3318 ELF3 E74 like ETS transcription factor 3 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "EPR-1|ESE-1|ERT" ESX E74-like factor 3 (ets domain transcription factor, epithelial-specific ) ETS transcription factor family 534 1996-04-12 2016-02-25 2023-01-20 1999 ENSG00000163435 OTTHUMG00000035867 uc001gxg.5 AF016295 NM_004433 CCDS1419 P78545 "9395241|9129154" MGI:1101781 RGD:1310687 602191 HGNC:3318 "ENST00000367284.10|NM_004433.5" HGNC:40211 ELF3-AS1 ELF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 "ENST00000415582|SCAT7" S-phase cancer-associated transcript 7 Antisense RNAs 1987 2017-01-06 2018-08-03 102723465 ENSG00000234678 OTTHUMG00000035865 NR_146472 "27997908|29491376" HGNC:40211 HGNC:3319 ELF4 E74 like ETS transcription factor 4 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "MEF|ELFR" E74-like factor 4 (ets domain transcription factor) ETS transcription factor family 534 1996-10-11 2016-02-25 2023-01-20 2000 ENSG00000102034 OTTHUMG00000022390 uc004eve.5 U32645 NM_001421 CCDS14617 Q99607 8895518 MGI:1928377 RGD:1560743 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ELF4|LRG_335|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_335.xml" ELF4 300775 306189 HGNC:3319 "ENST00000308167.10|NM_001421.4" HGNC:3319 -HGNC:3320 ELF5 E74 like ETS transcription factor 5 protein-coding gene gene with protein product Approved 11p13 11p13 E74-like factor 5 (ets domain transcription factor) ETS transcription factor family 534 1998-04-22 2016-02-25 2023-01-20 2001 ENSG00000135374 OTTHUMG00000166451 uc001mvp.3 AF049703 NM_198381 "CCDS7892|CCDS73273|CCDS7893|CCDS58129" Q9UKW6 9840936 MGI:1335079 RGD:1305859 605169 HGNC:3320 "ENST00000257832.7|NM_001422.4" +HGNC:3320 ELF5 E74 like ETS transcription factor 5 protein-coding gene gene with protein product Approved 11p13 11p13 E74-like factor 5 (ets domain transcription factor) ETS transcription factor family 534 1998-04-22 2016-02-25 2023-01-20 2001 ENSG00000135374 OTTHUMG00000166451 uc001mvp.3 AF049703 NM_198381 "CCDS7893|CCDS73273|CCDS58129|CCDS7892" Q9UKW6 9840936 MGI:1335079 RGD:1305859 605169 HGNC:3320 "ENST00000257832.7|NM_001422.4" HGNC:33154 ELFN1 extracellular leucine rich repeat and fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 PPP1R28 "extracellular leucine-rich repeat and fibronectin type III containing 1|protein phosphatase 1, regulatory subunit 28" "Fibronectin type III domain containing|Protein phosphatase 1 regulatory subunits" "555|694" 2007-09-24 2011-10-27 2016-06-06 2023-01-20 392617 ENSG00000225968 OTTHUMG00000151495 uc064aye.1 NM_001128636 CCDS59046 P0C7U0 17868438 MGI:2442479 RGD:1308787 614964 HGNC:33154 "ENST00000424383.5|NM_001128636.4" HGNC:39071 ELFN1-AS1 ELFN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 MYCLo-2 Antisense RNAs 1987 2014-03-01 2020-04-20 101927125 ENSG00000236081 OTTHUMG00000151496 BX119057 NR_120508 "24707484|25663692" ELFN1-AS1 HGNC:39071 HGNC:29396 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "dJ63G5.3|KIAA1904" "LRRC62|PPP1R29" "leucine rich repeat containing 62|extracellular leucine-rich repeat and fibronectin type III containing 2|protein phosphatase 1, regulatory subunit 29" "Fibronectin type III domain containing|Protein phosphatase 1 regulatory subunits" "555|694" 2006-10-16 2011-10-27 2016-06-06 2023-01-20 114794 ENSG00000166897 OTTHUMG00000150558 uc003asq.4 BC041596 NM_052906 CCDS33642 Q5R3F8 17868438 MGI:3608416 RGD:1559693 620223 HGNC:29396 "ENST00000402918.7|NM_052906.5" @@ -7792,15 +7793,15 @@ HGNC:39344 ELL2P2 elongation factor for RNA polymerase II 2 pseudogene 2 pseudog HGNC:39345 ELL2P3 elongation factor for RNA polymerase II 2 pseudogene 3 pseudogene pseudogene Approved 13q21.33 13q21.33 elongation factor, RNA polymerase II, 2 pseudogene 3 2010-11-29 2016-03-11 2016-03-11 100533713 ENSG00000234765 OTTHUMG00000017046 NG_028874 PGOHUM00000248425 HGNC:39345 HGNC:39346 ELL2P4 elongation factor for RNA polymerase II 2 pseudogene 4 pseudogene pseudogene Approved Xq27.3 Xq27.3 elongation factor, RNA polymerase II, 2 pseudogene 4 2010-11-29 2016-03-11 2016-03-11 100128690 ENSG00000226388 OTTHUMG00000022597 NG_022711 PGOHUM00000242063 HGNC:39346 HGNC:23113 ELL3 elongation factor for RNA polymerase II 3 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 FLJ22637 elongation factor RNA polymerase II-like 3 Super elongation complex 1280 2003-09-17 2016-01-21 2023-01-20 80237 ENSG00000128886 OTTHUMG00000059936 uc001zsw.2 AF276512 NM_025165 CCDS10102 Q9HB65 10882741 MGI:2673679 RGD:1309917 609885 HGNC:23113 "ENST00000319359.8|NM_025165.3" -HGNC:16286 ELMO1 engulfment and cell motility 1 protein-coding gene gene with protein product Approved 7p14.2-p14.1 07p14.2-p14.1 "KIAA0281|CED12|ELMO-1|CED-12" engulfment and cell motility 1 (ced-12 homolog, C. elegans) "Engulfment and cell motility proteins|MicroRNA protein coding host genes" "543|1691" 2001-12-13 2006-01-20 2023-01-20 9844 ENSG00000155849 OTTHUMG00000023701 uc003tfk.3 AF398885 NM_130442 "CCDS5449|CCDS5450" Q92556 11595183 MGI:2153044 RGD:1308182 606420 HGNC:16286 "ENST00000310758.9|NM_014800.11" HGNC:16286 +HGNC:16286 ELMO1 engulfment and cell motility 1 protein-coding gene gene with protein product Approved 7p14.2-p14.1 07p14.2-p14.1 "KIAA0281|CED12|ELMO-1|CED-12" engulfment and cell motility 1 (ced-12 homolog, C. elegans) "Engulfment and cell motility proteins|MicroRNA protein coding host genes" "543|1691" 2001-12-13 2006-01-20 2023-01-20 9844 ENSG00000155849 OTTHUMG00000023701 uc003tfk.3 AF398885 NM_130442 "CCDS5450|CCDS5449" Q92556 11595183 MGI:2153044 RGD:1308182 606420 HGNC:16286 "ENST00000310758.9|NM_014800.11" HGNC:16286 HGNC:40765 ELMO1-AS1 ELMO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.2 07p14.2 ELMO1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-12 2012-08-15 2014-11-19 100861514 ENSG00000224101 OTTHUMG00000154988 uc032zka.1 DA058843 NR_104120 ELMO1-AS1 HGNC:40765 HGNC:17233 ELMO2 engulfment and cell motility 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CED12|ELMO-2|CED-12|KIAA1834|FLJ11656" engulfment and cell motility 2 (ced-12 homolog, C. elegans) Engulfment and cell motility proteins 543 2001-12-13 2006-01-20 2023-01-20 63916 ENSG00000062598 OTTHUMG00000033070 uc002xru.2 AF398886 NM_022086 "CCDS13398|CCDS82623" Q96JJ3 11595183 MGI:2153045 RGD:1305784 606421 465978 HGNC:17233 "ENST00000290246.11|NM_133171.5" HGNC:17233 HGNC:38008 ELMO2P1 engulfment and cell motility 2 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 2010-03-18 2015-02-02 729894 ENSG00000276172 OTTHUMG00000188345 NG_022962 PGOHUM00000246662 HGNC:38008 HGNC:17289 ELMO3 engulfment and cell motility 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ13824|CED12|ELMO-3|CED-12" engulfment and cell motility 3 (ced-12 homolog, C. elegans) Engulfment and cell motility proteins 543 2001-12-13 2006-01-20 2023-01-20 79767 ENSG00000102890 OTTHUMG00000133570 uc002esa.4 NM_024712 CCDS10833 Q96BJ8 11595183 MGI:2679007 RGD:1304734 606422 HGNC:17289 "ENST00000393997.8|NM_024712.5" -HGNC:25334 ELMOD1 ELMO domain containing 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 DKFZp547C176 ELMO/CED-12 domain containing 1 ELMO domain containing 1813 2004-08-20 2016-02-29 2023-01-20 55531 ENSG00000110675 OTTHUMG00000166361 uc001pjm.4 AL359601 NM_018712 "CCDS44723|CCDS76472|CCDS44724" Q8N336 29222402 MGI:3583900 RGD:1564186 615456 HGNC:25334 "ENST00000265840.12|NM_018712.4" +HGNC:25334 ELMOD1 ELMO domain containing 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 DKFZp547C176 ELMO/CED-12 domain containing 1 ELMO domain containing 1813 2004-08-20 2016-02-29 2023-01-20 55531 ENSG00000110675 OTTHUMG00000166361 uc001pjm.4 AL359601 NM_018712 "CCDS44724|CCDS44723|CCDS76472" Q8N336 29222402 MGI:3583900 RGD:1564186 615456 HGNC:25334 "ENST00000265840.12|NM_018712.4" HGNC:28111 ELMOD2 ELMO domain containing 2 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 MGC10084 ELMO/CED-12 domain containing 2 ELMO domain containing 1813 2004-08-20 2016-02-29 2023-01-20 255520 ENSG00000179387 OTTHUMG00000133417 uc003iik.3 BX648349 NM_153702 CCDS3752 Q8IZ81 16773575 MGI:2445165 RGD:1587598 610196 HGNC:28111 "ENST00000323570.8|NM_153702.4" -HGNC:26158 ELMOD3 ELMO domain containing 3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 FLJ21977 "RBM29|RBED1|DFNB88" "RNA binding motif protein 29|RNA binding motif and ELMO/CED-12 domain 1|deafness, autosomal recessive 88|ELMO/CED-12 domain containing 3" "RNA binding motif containing|ELMO domain containing" "725|1813" 2004-06-03 2008-08-14 2016-02-29 2023-01-20 84173 ENSG00000115459 OTTHUMG00000130170 uc002spg.5 AF258573 NM_032213 "CCDS46352|CCDS1973" Q96FG2 24039609 MGI:2445168 RGD:1306408 615427 364285 HGNC:26158 "ENST00000409013.8|NM_001135022.2" HGNC:26158 -HGNC:3327 ELN elastin protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WBS|WS|SVAS" "tropoelastin|supravalvular aortic stenosis|Williams-Beuren syndrome" 1986-01-01 2008-08-01 2023-01-20 2006 ENSG00000049540 OTTHUMG00000150229 uc003tzn.5 NM_000501 "CCDS64673|CCDS64675|CCDS75616|CCDS5562|CCDS64677|CCDS64674|CCDS64678|CCDS43599|CCDS64676|CCDS47611|CCDS43598|CCDS47612|CCDS75617" P15502 8096434 MGI:95317 RGD:67394 130160 121517 HGNC:3327 "ENST00000252034.12|NM_000501.4" HGNC:3327 +HGNC:26158 ELMOD3 ELMO domain containing 3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 FLJ21977 "RBM29|RBED1|DFNB88" "RNA binding motif protein 29|RNA binding motif and ELMO/CED-12 domain 1|deafness, autosomal recessive 88|ELMO/CED-12 domain containing 3" "RNA binding motif containing|ELMO domain containing" "725|1813" 2004-06-03 2008-08-14 2016-02-29 2023-01-20 84173 ENSG00000115459 OTTHUMG00000130170 uc002spg.5 AF258573 NM_032213 "CCDS1973|CCDS46352" Q96FG2 24039609 MGI:2445168 RGD:1306408 615427 364285 HGNC:26158 "ENST00000409013.8|NM_001135022.2" HGNC:26158 +HGNC:3327 ELN elastin protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WBS|WS|SVAS" "tropoelastin|supravalvular aortic stenosis|Williams-Beuren syndrome" 1986-01-01 2008-08-01 2023-01-20 2006 ENSG00000049540 OTTHUMG00000150229 uc003tzn.5 NM_000501 "CCDS64674|CCDS64673|CCDS47611|CCDS5562|CCDS75617|CCDS75616|CCDS43598|CCDS43599|CCDS47612|CCDS64677|CCDS64678|CCDS64675|CCDS64676" P15502 8096434 MGI:95317 RGD:67394 130160 121517 HGNC:3327 "ENST00000252034.12|NM_000501.4" HGNC:3327 HGNC:40212 ELN-AS1 ELN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q11.23 07q11.23 CTB-51J22.1 Antisense RNAs 1987 2017-09-21 2017-09-21 107986809 ENSG00000232415 OTTHUMG00000157272 NR_183555 28881755 HGNC:40212 HGNC:11620 ELOA elongin A protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SIII|TCEB3A|ELOA1" TCEB3 "transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)|transcription elongation factor B subunit 3" Elongin complex 1392 1995-09-14 2016-10-31 2016-10-31 2023-05-09 6924 ENSG00000011007 OTTHUMG00000002957 uc057dgm.1 L47345 NM_003198 CCDS239 Q14241 "8586449|7660129" MGI:1351315 RGD:3827 600786 HGNC:11620 "ENST00000613537.5|NM_003198.3" HGNC:50582 ELOA-AS1 ELOA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 TCEB3-AS1 TCEB3 antisense RNA 1 Antisense RNAs 1987 2014-05-21 2016-10-31 2016-10-31 2016-10-31 100506963 ENSG00000236810 OTTHUMG00000002959 NR_038280 HGNC:50582 @@ -7856,19 +7857,19 @@ HGNC:14416 ELOVL2 ELOVL fatty acid elongase 2 protein-coding gene gene with prot HGNC:44156 ELOVL2-AS1 ELOVL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p24.2 06p24.2 ELOVL2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100506409 ENSG00000230314 OTTHUMG00000014251 uc021yln.2 BC038757 NR_038962 ELOVL2-AS1 HGNC:44156 HGNC:18047 ELOVL3 ELOVL fatty acid elongase 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 CIG-30 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3 2002-01-22 2011-05-25 2023-01-20 83401 ENSG00000119915 OTTHUMG00000018951 uc001kut.5 AF292387 NM_152310 CCDS7531 Q9HB03 MGI:1195976 RGD:1307263 611815 HGNC:18047 "ENST00000370005.4|NM_152310.3" HGNC:14415 ELOVL4 ELOVL fatty acid elongase 4 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 CT118 cancer/testis antigen 118 "STGD2|STGD3|SCA34" "elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4|spinocerebellar ataxia 34" 2001-01-18 2011-05-25 2023-01-20 6785 ENSG00000118402 OTTHUMG00000015087 uc003pja.5 AF277094 NM_022726 CCDS4992 Q9GZR5 "11138005|24566826" MGI:1933331 RGD:1305630 Mutations of the Elongation of Very Long Chain Fatty Acids-like Protein 4 Gene|http://www.retina-international.org/files/sci-news/elovlmut.htm 605512 121522 HGNC:14415 "ENST00000369816.5|NM_022726.4" HGNC:14415 -HGNC:21308 ELOVL5 ELOVL fatty acid elongase 5 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "HELO1|dJ483K16.1" SCA38 "ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)|spinocerebellar ataxia 38" 2003-06-12 2011-05-25 2023-01-20 60481 ENSG00000012660 OTTHUMG00000016249 uc003pbr.3 AF052129 NM_021814 "CCDS56434|CCDS56433|CCDS4951|CCDS75470" Q9NYP7 "10970790|25065913" MGI:1916051 RGD:620583 611805 432003 HGNC:21308 "ENST00000304434.11|NM_021814.5" HGNC:21308 +HGNC:21308 ELOVL5 ELOVL fatty acid elongase 5 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "HELO1|dJ483K16.1" SCA38 "ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)|spinocerebellar ataxia 38" 2003-06-12 2011-05-25 2023-01-20 60481 ENSG00000012660 OTTHUMG00000016249 uc003pbr.3 AF052129 NM_021814 "CCDS56434|CCDS56433|CCDS75470|CCDS4951" Q9NYP7 "10970790|25065913" MGI:1916051 RGD:620583 611805 432003 HGNC:21308 "ENST00000304434.11|NM_021814.5" HGNC:21308 HGNC:15829 ELOVL6 ELOVL fatty acid elongase 6 protein-coding gene gene with protein product Approved 4q25 04q25 "FLJ23378|MGC5487|LCE" ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) 2003-06-06 2011-05-25 2023-01-20 79071 ENSG00000170522 OTTHUMG00000132547 uc003hzz.4 AK027031 NM_024090 CCDS3690 Q9H5J4 11567032 MGI:2156528 RGD:620585 611546 HGNC:15829 "ENST00000302274.8|NM_024090.3" HGNC:26292 ELOVL7 ELOVL fatty acid elongase 7 protein-coding gene gene with protein product Approved 5q12.1 05q12.1 FLJ23563 ELOVL family member 7, elongation of long chain fatty acids (yeast) 2004-05-17 2011-05-25 2023-01-20 79993 ENSG00000164181 OTTHUMG00000162254 uc003jsi.5 AK027216 NM_001104558 "CCDS78013|CCDS34164" A1L3X0 19826053 MGI:1921809 RGD:1310560 614451 HGNC:26292 "ENST00000508821.6|NM_024930.3" -HGNC:5959 ELP1 elongator acetyltransferase complex subunit 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "IKAP|TOT1|IKI3" "DYS|IKBKAP" "dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)|inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein|elongator complex protein 1" Elongator acetyltransferase complex 539 1998-09-30 2017-05-04 2020-09-23 2023-01-20 8518 ENSG00000070061 OTTHUMG00000020465 uc004bdm.5 AF044195 NM_001318360 "CCDS83394|CCDS94451|CCDS6773" O95163 "9751059|11179008" MGI:1914544 RGD:620072 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_251|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_251.xml" 603722 122607 HGNC:5959 "ENST00000374647.10|NM_003640.5" HGNC:5959 -HGNC:18248 ELP2 elongator acetyltransferase complex subunit 2 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "FLJ10879|StIP" STATIP1 "signal transducer and activator of transcription 3 interacting protein 1|elongation protein 2 homolog (S. cerevisiae)" "WD repeat domain containing|Elongator acetyltransferase complex " "362|539" 2003-03-20 2007-04-20 2012-08-08 2023-01-20 55250 ENSG00000134759 OTTHUMG00000132589 uc002kzk.4 AK001741 NM_018255 "CCDS56068|CCDS11918|CCDS56069|CCDS56065|CCDS56067|CCDS56066" Q6IA86 "11714725|10954736" MGI:1889642 RGD:1306419 616054 470270 HGNC:18248 "ENST00000358232.11|NM_018255.4" HGNC:18248 -HGNC:20696 ELP3 elongator acetyltransferase complex subunit 3 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "FLJ10422|KAT9" elongation protein 3 homolog (S. cerevisiae) "Lysine acetyltransferases|Elongator acetyltransferase complex |GCN5 related N-acetyltransferases|Radical S-adenosylmethionine domain containing" "486|539|1134|2036" 2003-03-20 2012-08-08 2023-01-20 55140 ENSG00000134014 OTTHUMG00000102124 uc003xgn.6 NM_018091 "CCDS6065|CCDS75718|CCDS64861|CCDS64860|CCDS75717" Q9H9T3 11714725 MGI:1921445 RGD:2324506 612722 objectId:2653 HGNC:20696 "ENST00000256398.13|NM_018091.6" -HGNC:1171 ELP4 elongator acetyltransferase complex subunit 4 protein-coding gene gene with protein product Approved 11p13 11p13 PAXNEB C11orf19 "chromosome 11 open reading frame 19|elongation protein 4 homolog (S. cerevisiae)" Elongator acetyltransferase complex 539 1999-12-14 2002-05-24 2012-08-08 2023-01-20 26610 ENSG00000109911 OTTHUMG00000142919 uc001mtb.5 AJ276005 NM_019040 "CCDS73271|CCDS7875|CCDS73272" Q96EB1 "11889558|11435442" MGI:1925016 RGD:1566052 606985 HGNC:1171 "ENST00000640961.2|NM_019040.5" HGNC:1171 -HGNC:30617 ELP5 elongator acetyltransferase complex subunit 5 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 DERP6 "dermal papilla derived protein 6|S-phase 2 protein" C17orf81 chromosome 17 open reading frame 81 Elongator acetyltransferase complex 539 2006-02-13 2012-08-08 2012-08-08 2023-01-20 23587 ENSG00000170291 OTTHUMG00000177974 uc002gfg.2 BC002762 NM_015362 "CCDS11094|CCDS11095" Q8TE02 22854966 MGI:1859017 RGD:1303303 615019 HGNC:30617 "ENST00000396628.7|NM_203414.3" -HGNC:25976 ELP6 elongator acetyltransferase complex subunit 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ20211 "TMEM103|C3orf75" "transmembrane protein 103|chromosome 3 open reading frame 75" Elongator acetyltransferase complex 539 2005-12-19 2012-08-08 2012-08-08 2023-03-15 54859 ENSG00000163832 OTTHUMG00000133521 uc003crk.4 AK000218 NM_017713 "CCDS87073|CCDS43082" Q0PNE2 22854966 MGI:1919349 RGD:1305478 615020 HGNC:25976 "ENST00000296149.9|NM_001031703.3" +HGNC:5959 ELP1 elongator acetyltransferase complex subunit 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "IKAP|TOT1|IKI3" "DYS|IKBKAP" "dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)|inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein|elongator complex protein 1" Elongator acetyltransferase complex 539 1998-09-30 2017-05-04 2020-09-23 2023-01-20 8518 ENSG00000070061 OTTHUMG00000020465 uc004bdm.5 AF044195 NM_001318360 "CCDS94451|CCDS83394|CCDS6773" O95163 "9751059|11179008" MGI:1914544 RGD:620072 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_251|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_251.xml" 603722 122607 HGNC:5959 "ENST00000374647.10|NM_003640.5" HGNC:5959 +HGNC:18248 ELP2 elongator acetyltransferase complex subunit 2 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "FLJ10879|StIP" STATIP1 "signal transducer and activator of transcription 3 interacting protein 1|elongation protein 2 homolog (S. cerevisiae)" "WD repeat domain containing|Elongator acetyltransferase complex " "362|539" 2003-03-20 2007-04-20 2012-08-08 2023-01-20 55250 ENSG00000134759 OTTHUMG00000132589 uc002kzk.4 AK001741 NM_018255 "CCDS56067|CCDS56065|CCDS56068|CCDS11918|CCDS56069|CCDS56066" Q6IA86 "11714725|10954736" MGI:1889642 RGD:1306419 616054 470270 HGNC:18248 "ENST00000358232.11|NM_018255.4" HGNC:18248 +HGNC:20696 ELP3 elongator acetyltransferase complex subunit 3 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "FLJ10422|KAT9" elongation protein 3 homolog (S. cerevisiae) "Lysine acetyltransferases|Elongator acetyltransferase complex |GCN5 related N-acetyltransferases|Radical S-adenosylmethionine domain containing" "486|539|1134|2036" 2003-03-20 2012-08-08 2023-01-20 55140 ENSG00000134014 OTTHUMG00000102124 uc003xgn.6 NM_018091 "CCDS64861|CCDS75718|CCDS75717|CCDS64860|CCDS6065" Q9H9T3 11714725 MGI:1921445 RGD:2324506 612722 objectId:2653 HGNC:20696 "ENST00000256398.13|NM_018091.6" +HGNC:1171 ELP4 elongator acetyltransferase complex subunit 4 protein-coding gene gene with protein product Approved 11p13 11p13 PAXNEB C11orf19 "chromosome 11 open reading frame 19|elongation protein 4 homolog (S. cerevisiae)" Elongator acetyltransferase complex 539 1999-12-14 2002-05-24 2012-08-08 2023-01-20 26610 ENSG00000109911 OTTHUMG00000142919 uc001mtb.5 AJ276005 NM_019040 "CCDS73271|CCDS73272|CCDS7875" Q96EB1 "11889558|11435442" MGI:1925016 RGD:1566052 606985 HGNC:1171 "ENST00000640961.2|NM_019040.5" HGNC:1171 +HGNC:30617 ELP5 elongator acetyltransferase complex subunit 5 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 DERP6 "dermal papilla derived protein 6|S-phase 2 protein" C17orf81 chromosome 17 open reading frame 81 Elongator acetyltransferase complex 539 2006-02-13 2012-08-08 2012-08-08 2023-01-20 23587 ENSG00000170291 OTTHUMG00000177974 uc002gfg.2 BC002762 NM_015362 "CCDS11095|CCDS11094" Q8TE02 22854966 MGI:1859017 RGD:1303303 615019 HGNC:30617 "ENST00000396628.7|NM_203414.3" +HGNC:25976 ELP6 elongator acetyltransferase complex subunit 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ20211 "TMEM103|C3orf75" "transmembrane protein 103|chromosome 3 open reading frame 75" Elongator acetyltransferase complex 539 2005-12-19 2012-08-08 2012-08-08 2023-03-15 54859 ENSG00000163832 OTTHUMG00000133521 uc003crk.4 AK000218 NM_017713 "CCDS43082|CCDS87073" Q0PNE2 22854966 MGI:1919349 RGD:1305478 615020 HGNC:25976 "ENST00000296149.9|NM_001031703.3" HGNC:14417 ELSPBP1 epididymal sperm binding protein 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "HE12|E12|EDDM12" epididymal protein 12 2001-01-22 2023-01-20 64100 ENSG00000169393 OTTHUMG00000183138 uc002pht.4 AJ278478 NM_022142 CCDS12708 Q96BH3 607443 HGNC:14417 "ENST00000339841.7|NM_022142.5" HGNC:30465 EMB embigin protein-coding gene gene with protein product Approved 5q11.1 05q11.1 MGC71745 embigin homolog (mouse) "I-set domain containing|Basigin family " "593|1669" 2004-11-30 2010-06-24 2023-01-20 133418 ENSG00000170571 OTTHUMG00000131161 uc003jom.4 BC059398 NM_198449 CCDS3953 Q6PCB8 9438341 MGI:95321 RGD:621067 615669 HGNC:30465 "ENST00000303221.10|NM_198449.3" HGNC:38661 EMBP1 embigin pseudogene 1 pseudogene pseudogene Approved 1p11.2 01p11.2 2010-07-06 2020-06-03 647121 ENSG00000231752 OTTHUMG00000185035 NR_003955 32482375 PGOHUM00000244885 HGNC:38661 -HGNC:28957 EMC1 ER membrane protein complex subunit 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 KIAA0090 KIAA0090 ER membrane protein complex subunits 1911 2005-04-05 2012-05-23 2012-05-23 2023-01-20 23065 ENSG00000127463 OTTHUMG00000002497 uc001bbo.5 NM_015047 "CCDS59191|CCDS190|CCDS90871|CCDS59190" Q8N766 22119785 MGI:2443696 RGD:1310427 616846 470272 HGNC:28957 "ENST00000477853.6|NM_015047.3" HGNC:28957 +HGNC:28957 EMC1 ER membrane protein complex subunit 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 KIAA0090 KIAA0090 ER membrane protein complex subunits 1911 2005-04-05 2012-05-23 2012-05-23 2023-01-20 23065 ENSG00000127463 OTTHUMG00000002497 uc001bbo.5 NM_015047 "CCDS190|CCDS59191|CCDS59190|CCDS90871" Q8N766 22119785 MGI:2443696 RGD:1310427 616846 470272 HGNC:28957 "ENST00000477853.6|NM_015047.3" HGNC:28957 HGNC:54050 EMC1-AS1 EMC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Antisense RNAs 1987 2018-09-26 2018-09-26 101927895 ENSG00000230424 NR_135114 HGNC:54050 HGNC:28963 EMC2 ER membrane protein complex subunit 2 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "KIAA0103|TTC35" tetratricopeptide repeat domain 35 "Tetratricopeptide repeat domain containing|ER membrane protein complex subunits" "769|1911" 2004-01-30 2012-05-23 2012-05-23 2023-01-20 9694 ENSG00000104412 OTTHUMG00000164873 uc003ymw.2 BC021667 NM_014673 CCDS6309 Q15006 "7788527|22119785" MGI:1913986 RGD:1310430 607722 HGNC:28963 "ENST00000220853.8|NM_014673.5" HGNC:23999 EMC3 ER membrane protein complex subunit 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 TMEM111 transmembrane protein 111 ER membrane protein complex subunits 1911 2005-12-22 2012-05-23 2012-05-23 2023-01-20 55831 ENSG00000125037 OTTHUMG00000128652 uc003bun.4 AF157321 NM_018447 CCDS2594 Q9P0I2 "19797678|22119785" MGI:1913337 RGD:1311566 620273 HGNC:23999 "ENST00000245046.7|NM_001394674.1" @@ -7876,12 +7877,12 @@ HGNC:49223 EMC3-AS1 EMC3 antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:28032 EMC4 ER membrane protein complex subunit 4 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ90746|MGC24415|PIG17" TMEM85 transmembrane protein 85 ER membrane protein complex subunits 1911 2006-02-15 2012-05-23 2012-05-23 2023-01-20 51234 ENSG00000128463 OTTHUMG00000129411 uc001zhq.5 BC016348 NM_016454 "CCDS10035|CCDS66732" Q5J8M3 "18586032|22119785" MGI:1915282 RGD:1310905 616245 HGNC:28032 "ENST00000267750.9|NM_016454.4" HGNC:28430 EMC6 ER membrane protein complex subunit 6 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "MGC2963|RAB5IFL" TMEM93 transmembrane protein 93 ER membrane protein complex subunits 1911 2005-12-13 2012-05-23 2012-05-23 2023-01-20 83460 ENSG00000127774 OTTHUMG00000180187 uc002fwf.3 NM_031298 CCDS11033 Q9BV81 "22119785|23182941" MGI:1913298 RGD:1309231 620261 HGNC:28430 "ENST00000248378.6|NM_031298.4" HGNC:24301 EMC7 ER membrane protein complex subunit 7 protein-coding gene gene with protein product Approved 15q14 15q14 C11orf3 C15orf24 chromosome 15 open reading frame 24 ER membrane protein complex subunits 1911 2004-06-25 2012-05-30 2012-05-30 2023-01-20 56851 ENSG00000134153 OTTHUMG00000129367 uc001zhm.4 AJ245874 NM_020154 CCDS10032 Q9NPA0 "10873569|22119785" MGI:1920274 RGD:1305045 HGNC:24301 "ENST00000256545.9|NM_020154.3" -HGNC:7864 EMC8 ER membrane protein complex subunit 8 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FAM158B family with sequence similarity 158, member B "C16orf4|NOC4|C16orf2|COX4NB" "chromosome 16 open reading frame 4|neighbor of COX4|chromosome 16 open reading frame 2|COX4 neighbor" ER membrane protein complex subunits 1911 1999-06-02 2012-05-30 2012-05-30 2023-01-20 10328 ENSG00000131148 OTTHUMG00000137647 uc002fjd.4 AF005888 NM_006067 "CCDS45541|CCDS10954" O43402 "10337626|22119785" MGI:1343095 RGD:1311219 604886 HGNC:7864 "ENST00000253457.8|NM_006067.5" +HGNC:7864 EMC8 ER membrane protein complex subunit 8 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FAM158B family with sequence similarity 158, member B "C16orf4|NOC4|C16orf2|COX4NB" "chromosome 16 open reading frame 4|neighbor of COX4|chromosome 16 open reading frame 2|COX4 neighbor" ER membrane protein complex subunits 1911 1999-06-02 2012-05-30 2012-05-30 2023-01-20 10328 ENSG00000131148 OTTHUMG00000137647 uc002fjd.4 AF005888 NM_006067 "CCDS10954|CCDS45541" O43402 "10337626|22119785" MGI:1343095 RGD:1311219 604886 HGNC:7864 "ENST00000253457.8|NM_006067.5" HGNC:20273 EMC9 ER membrane protein complex subunit 9 protein-coding gene gene with protein product Approved 14q12 14q12 CGI-112 "C14orf122|FAM158A" "chromosome 14 open reading frame 122|family with sequence similarity 158, member A" ER membrane protein complex subunits 1911 2003-01-17 2012-05-30 2012-05-30 2023-01-20 51016 ENSG00000100908 OTTHUMG00000028796 uc001wmi.3 BF346999 NM_016049 "CCDS86377|CCDS9613" Q9Y3B6 22119785 MGI:1934682 RGD:1308113 HGNC:20273 "ENST00000216799.9|NM_016049.4" HGNC:27609 EMC10 ER membrane protein complex subunit 10 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "INM02|HSS1|HSM1" "hematopoietic signal peptide-containing secreted 1|hematopoietic signal peptide-containing membrane domain-containing 1" C19orf63 chromosome 19 open reading frame 63 ER membrane protein complex subunits 1911 2007-07-17 2012-05-30 2012-05-30 2023-01-20 284361 ENSG00000161671 OTTHUMG00000183042 uc002psl.5 BC062607 NM_175063 "CCDS12796|CCDS42594" Q5UCC4 "12975309|22119785" MGI:1916933 RGD:1303214 614545 HGNC:27609 "ENST00000334976.11|NM_206538.4" HGNC:27609 -HGNC:16041 EMCN endomucin protein-coding gene gene with protein product Approved 4q24 04q24 MUC14 Mucins 648 2006-04-03 2023-01-20 51705 ENSG00000164035 OTTHUMG00000131051 uc003hvr.3 AF205940 NM_016242 "CCDS54782|CCDS3655" Q9ULC0 "11418125|11594763" MGI:1891716 RGD:1303218 608350 HGNC:16041 "ENST00000296420.9|NM_016242.4" +HGNC:16041 EMCN endomucin protein-coding gene gene with protein product Approved 4q24 04q24 MUC14 Mucins 648 2006-04-03 2023-01-20 51705 ENSG00000164035 OTTHUMG00000131051 uc003hvr.3 AF205940 NM_016242 "CCDS3655|CCDS54782" Q9ULC0 "11418125|11594763" MGI:1891716 RGD:1303218 608350 HGNC:16041 "ENST00000296420.9|NM_016242.4" HGNC:3331 EMD emerin protein-coding gene gene with protein product Approved Xq28 Xq28 "STA|LEMD5" LEM domain containing 5 Emery-Dreifuss muscular dystrophy LEM domain containing 1087 2001-06-22 2008-07-29 2023-01-20 2010 ENSG00000102119 OTTHUMG00000033186 uc004fkl.4 X82434 NM_000117 CCDS14745 P50402 MGI:108117 RGD:2551 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/EMD|UMD Locus Specific Databases|http://www.umd.be/|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=EMD|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EMD|LRG_745|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_745.xml" 300384 121526 HGNC:3331 "ENST00000369842.9|NM_000117.3" HGNC:3331 -HGNC:24965 EME1 essential meiotic structure-specific endonuclease 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ31364|MMS4L|SLX2A" SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae) essential meiotic endonuclease 1 homolog 1 (S. pombe) 2004-01-27 2013-07-03 2023-01-20 146956 ENSG00000154920 OTTHUMG00000164974 uc002iqs.3 BC016470 NM_152463 "CCDS54141|CCDS11565" Q96AY2 12721304 MGI:3576783 RGD:1309067 610885 HGNC:24965 "ENST00000338165.9|NM_152463.4" +HGNC:24965 EME1 essential meiotic structure-specific endonuclease 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ31364|MMS4L|SLX2A" SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae) essential meiotic endonuclease 1 homolog 1 (S. pombe) 2004-01-27 2013-07-03 2023-01-20 146956 ENSG00000154920 OTTHUMG00000164974 uc002iqs.3 BC016470 NM_152463 "CCDS11565|CCDS54141" Q96AY2 12721304 MGI:3576783 RGD:1309067 610885 HGNC:24965 "ENST00000338165.9|NM_152463.4" HGNC:27289 EME2 essential meiotic structure-specific endonuclease subunit 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ00151|SLX2B" SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae) essential meiotic endonuclease 1 homolog 2 (S. pombe) 2004-01-27 2013-07-03 2023-03-15 197342 ENSG00000197774 OTTHUMG00000176706 uc010brw.2 AK074080 NM_001010865 CCDS58404 A4GXA9 12721304 MGI:1919889 RGD:1304924 610886 HGNC:27289 "ENST00000568449.7|NM_001257370.2" HGNC:16912 EMG1 EMG1 N1-specific pseudouridine methyltransferase protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "C2F|NEP1|Grcc2f" "EMG1 nucleolar protein homolog (S. cerevisiae)|EMG1, N1-specific pseudouridine methyltransferase" "SPOUT methyltransferase domain containing|SSU processome" "1294|1484" 2006-01-12 2019-01-25 2023-01-20 10436 ENSG00000126749 OTTHUMG00000168968 uc031ysa.2 U72514 NM_006331 CCDS73430 Q92979 "9074930|11935223|19463982" MGI:1315195 RGD:1307665 611531 201553 HGNC:16912 "ENST00000599672.6|NM_006331.8" HGNC:16912 HGNC:53656 EMICERI EQTN MOB3B IFNK C9orf72 enhancer RNA I non-coding RNA RNA, long non-coding Approved 9p21.2 09p21.2 TCONS_00015940 Long non-coding RNAs with non-systematic symbols 1992 2023-01-16 2023-01-16 128385368 ENSG00000285103 28792927 @@ -7890,9 +7891,9 @@ HGNC:19880 EMILIN1 elastin microfibril interfacer 1 protein-coding gene gene wit HGNC:19881 EMILIN2 elastin microfibril interfacer 2 protein-coding gene gene with protein product Approved 18p11.32-p11.31 18p11.32-p11.31 "FLJ33200|FOAP-10" "EMI domain containing|C1q domain containing" "540|1641" 2003-07-16 2023-01-20 84034 ENSG00000132205 OTTHUMG00000128525 uc002kln.4 AF270513 NM_032048 CCDS11828 Q9BXX0 MGI:2389136 RGD:1305343 608928 HGNC:19881 "ENST00000254528.4|NM_032048.3" HGNC:16123 EMILIN3 elastin microfibril interfacer 3 protein-coding gene gene with protein product Approved 20q12 20q12 dJ620E11.4 chromosome 20 open reading frame 130 "C20orf130|EMILIN5" elastin microfibril interfacer 5 EMI domain containing 540 2001-07-17 2004-03-02 2004-03-02 2023-01-20 90187 ENSG00000183798 OTTHUMG00000046304 uc002xjy.2 AL031667 NM_052846 CCDS13316 Q9NT22 12221002 MGI:2389142 RGD:1309607 608929 HGNC:16123 "ENST00000332312.4|NM_052846.2" HGNC:3330 EML1 EMAP like 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "EMAP|HuEMAP|ELP79" EMAPL echinoderm microtubule associated protein like 1 "WD repeat domain containing|EMAP like" "362|1679" 1997-07-11 2002-02-15 2018-11-12 2023-01-20 2009 ENSG00000066629 OTTHUMG00000171529 uc001ygs.4 AK023861 NM_001008707 "CCDS32154|CCDS32155" O00423 "9226380|10521658" MGI:1915769 RGD:1306374 602033 434227 HGNC:3330 "ENST00000262233.11|NM_004434.3" HGNC:3330 -HGNC:18035 EML2 EMAP like 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "EMAP2|ELP70|EMAP-2" "echinoderm MT-associated protein (EMAP)-like protein 70|microtubule-associated protein like echinoderm EMAP" echinoderm microtubule associated protein like 2 "WD repeat domain containing|EMAP like|MicroRNA protein coding host genes" "362|1679|1691" 2002-02-15 2018-11-12 2023-01-20 24139 ENSG00000125746 OTTHUMG00000182127 uc002pcn.4 AF103939 NM_012155 "CCDS59399|CCDS54280|CCDS12670" O95834 "11694528|10521658" MGI:1919455 RGD:621066 617494 HGNC:18035 "ENST00000245925.8|NM_012155.4" +HGNC:18035 EML2 EMAP like 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "EMAP2|ELP70|EMAP-2" "echinoderm MT-associated protein (EMAP)-like protein 70|microtubule-associated protein like echinoderm EMAP" echinoderm microtubule associated protein like 2 "WD repeat domain containing|EMAP like|MicroRNA protein coding host genes" "362|1679|1691" 2002-02-15 2018-11-12 2023-01-20 24139 ENSG00000125746 OTTHUMG00000182127 uc002pcn.4 AF103939 NM_012155 "CCDS12670|CCDS54280|CCDS59399" O95834 "11694528|10521658" MGI:1919455 RGD:621066 617494 HGNC:18035 "ENST00000245925.8|NM_012155.4" HGNC:48331 EML2-AS1 EML2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.32 19q13.32 C19orf83 chromosome 19 open reading frame 83 Antisense RNAs 1987 2013-11-06 2015-03-18 2015-03-18 2023-03-15 100287177 ENSG00000267757 OTTHUMG00000182128 NR_130728 EML2-AS1 HGNC:48331 -HGNC:26666 EML3 EMAP like 3 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FLJ35827|ELP95" echinoderm microtubule associated protein like 3 "WD repeat domain containing|EMAP like" "362|1679" 2005-05-17 2018-11-12 2023-01-20 256364 ENSG00000149499 OTTHUMG00000149817 uc001ntu.2 AK093146 NM_153265 "CCDS76415|CCDS91491|CCDS8023" Q32P44 "15225882|14744259" MGI:2387612 RGD:7630023 618118 HGNC:26666 "ENST00000394773.7|NM_153265.3" +HGNC:26666 EML3 EMAP like 3 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FLJ35827|ELP95" echinoderm microtubule associated protein like 3 "WD repeat domain containing|EMAP like" "362|1679" 2005-05-17 2018-11-12 2023-01-20 256364 ENSG00000149499 OTTHUMG00000149817 uc001ntu.2 AK093146 NM_153265 "CCDS76415|CCDS8023|CCDS91491" Q32P44 "15225882|14744259" MGI:2387612 RGD:7630023 618118 HGNC:26666 "ENST00000394773.7|NM_153265.3" HGNC:1316 EML4 EMAP like 4 protein-coding gene gene with protein product Approved 2p21 02p21 "ROPP120|ELP120" C2orf2 echinoderm microtubule associated protein like 4 "WD repeat domain containing|EMAP like" "362|1679" 2000-01-31 2002-02-15 2018-11-12 2023-01-20 27436 ENSG00000143924 OTTHUMG00000128603 uc002rsi.3 AF177377 NM_019063 "CCDS46266|CCDS1807|CCDS92747" Q9HC35 MGI:1926048 RGD:1304690 EML4 607442 358452 HGNC:1316 "ENST00000318522.10|NM_019063.5" HGNC:40112 EML4-AS1 EML4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Antisense RNAs 1987 2019-07-25 2019-07-25 102723824 ENSG00000224875 OTTHUMG00000152629 NR_110584 HGNC:40112 HGNC:18197 EML5 EMAP like 5 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "HuEMAP-2|EMAP-2|FAP16" echinoderm microtubule associated protein like 5 "WD repeat domain containing|EMAP like" "362|1679" 2002-12-17 2018-11-12 2023-01-20 161436 ENSG00000165521 OTTHUMG00000170811 uc059edd.1 AY357725 NM_001385116 "CCDS45148|CCDS91916" Q05BV3 MGI:2442513 RGD:1303275 618119 HGNC:18197 "ENST00000554922.6|NM_183387.3" @@ -7903,7 +7904,7 @@ HGNC:3334 EMP2 epithelial membrane protein 2 protein-coding gene gene with prote HGNC:54651 EMP2P1 EMP2 pseudogene 1 pseudogene pseudogene Approved 2p23.3 02p23.3 2019-11-08 2020-01-21 391359 ENSG00000231655 NG_023036 HGNC:3335 EMP3 epithelial membrane protein 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 YMP 1997-12-05 2023-01-20 2014 ENSG00000142227 OTTHUMG00000183196 uc002piv.3 U52101 NM_001425 CCDS12715 P54852 "8996089|10331954" MGI:1098729 RGD:621094 602335 HGNC:3335 "ENST00000270221.11|NM_001425.3" HGNC:54408 EMSLR E2F1 mRNA stabilizing lncRNA non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 EMS E2F1 mRNA stabilizing factor Long non-coding RNAs with non-systematic symbols 1992 2019-07-12 2022-02-22 101927746 ENSG00000232445 NR_110115 "31262817|35169159" 618575 HGNC:54408 -HGNC:18071 EMSY EMSY transcriptional repressor, BRCA2 interacting protein-coding gene gene with protein product Approved 11q13.5 11q13.5 C11orf30 "chromosome 11 open reading frame 30|EMSY, BRCA2 interacting transcriptional repressor" EMSY complex 1243 2003-11-26 2015-10-26 2019-01-25 2023-01-20 56946 ENSG00000158636 OTTHUMG00000165282 uc001oxl.4 AF226047 NM_020193 "CCDS73351|CCDS73350|CCDS8244|CCDS73349" Q7Z589 "14651845|22315412" MGI:1924203 RGD:1310712 608574 HGNC:18071 "ENST00000695367.1|NM_001300942.2" +HGNC:18071 EMSY EMSY transcriptional repressor, BRCA2 interacting protein-coding gene gene with protein product Approved 11q13.5 11q13.5 C11orf30 "chromosome 11 open reading frame 30|EMSY, BRCA2 interacting transcriptional repressor" EMSY complex 1243 2003-11-26 2015-10-26 2019-01-25 2023-01-20 56946 ENSG00000158636 OTTHUMG00000165282 uc001oxl.4 AF226047 NM_020193 "CCDS73349|CCDS73351|CCDS8244|CCDS73350" Q7Z589 "14651845|22315412" MGI:1924203 RGD:1310712 608574 HGNC:18071 "ENST00000695367.1|NM_001300942.2" HGNC:55507 EMSY-DT EMSY divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.5 11q13.5 Divergent transcripts 1990 2021-03-17 2021-03-17 120883616 ENSG00000255135 HGNC:3340 EMX1 empty spiracles homeobox 1 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 empty spiracles homolog 1 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 1994-02-08 2007-02-15 2023-01-20 2016 ENSG00000135638 OTTHUMG00000129778 uc002sin.1 X68879 NM_004097 CCDS1921 Q04741 7959790 MGI:95387 RGD:1564002 600034 8432 HGNC:3340 "ENST00000258106.11|NM_004097.3" HGNC:3341 EMX2 empty spiracles homeobox 2 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 empty spiracles homolog 2 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 1994-02-08 2007-02-15 2023-01-20 2018 ENSG00000170370 OTTHUMG00000019123 uc001ldh.5 AF301598 NM_004098 "CCDS53583|CCDS7601" Q04743 7959790 MGI:95388 RGD:1564797 600035 8433 121529 HGNC:3341 "ENST00000553456.5|NM_004098.4" HGNC:3341 @@ -7913,14 +7914,14 @@ HGNC:3343 EN2 engrailed homeobox 2 protein-coding gene gene with protein product HGNC:55659 EN2-DT EN2 divergent transcript non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Divergent transcripts 1990 2021-06-30 2021-06-30 121832807 ENSG00000236544 HGNC:18271 ENAH ENAH actin regulator protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "FLJ10773|NDPP1|MENA" mammalian enabled enabled homolog (Drosophila) ENAH/VASPs 946 2002-08-06 2019-01-21 2023-01-20 55740 ENSG00000154380 OTTHUMG00000037742 uc001hpc.2 AK001635 NM_018212 "CCDS31040|CCDS31041" Q8N8S7 "1420303|16494957" MGI:108360 RGD:1307666 609061 HGNC:18271 "ENST00000366843.7|NM_018212.6" HGNC:56618 ENAHP1 ENAH pseudogene 1 pseudogene pseudogene Approved 3q28 03q28 2022-11-09 2022-11-09 100131685 ENSG00000214147 NG_022288 PGOHUM00000299697 -HGNC:3344 ENAM enamelin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) 1999-05-17 2023-01-20 10117 ENSG00000132464 OTTHUMG00000129914 uc011caw.2 AF125373 NM_031889 CCDS3544 Q9NRM1 11978766 MGI:1333772 RGD:1306796 LRG_1348|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1348.xml 606585 121533 HGNC:3344 "ENST00000396073.4|NM_031889.3" HGNC:3344 -HGNC:3345 ENC1 ectodermal-neural cortex 1 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "PIG10|ENC-1|TP53I10|KLHL37" kelch-like family member 37 NRPB "ectodermal-neural cortex 1 (with BTB-like domain)|ectodermal-neural cortex 1 (with BTB domain)" "Kelch like|BTB domain containing" "617|861" 1998-09-30 2016-01-21 2023-01-20 8507 ENSG00000171617 OTTHUMG00000102059 uc031skd.1 AF059611 NM_003633 "CCDS58958|CCDS4021" O14682 "9305847|9566959" MGI:109610 RGD:1303152 605173 HGNC:3345 "ENST00000302351.9|NM_003633.4" +HGNC:3344 ENAM enamelin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) Secretory calcium-binding phosphoprotein family 2245 1999-05-17 2023-01-20 10117 ENSG00000132464 OTTHUMG00000129914 uc011caw.2 AF125373 NM_031889 CCDS3544 Q9NRM1 11978766 MGI:1333772 RGD:1306796 LRG_1348|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1348.xml 606585 121533 HGNC:3344 "ENST00000396073.4|NM_031889.3" HGNC:3344 +HGNC:3345 ENC1 ectodermal-neural cortex 1 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "PIG10|ENC-1|TP53I10|KLHL37" kelch-like family member 37 NRPB "ectodermal-neural cortex 1 (with BTB-like domain)|ectodermal-neural cortex 1 (with BTB domain)" "Kelch like|BTB domain containing" "617|861" 1998-09-30 2016-01-21 2023-01-20 8507 ENSG00000171617 OTTHUMG00000102059 uc031skd.1 AF059611 NM_003633 "CCDS4021|CCDS58958" O14682 "9305847|9566959" MGI:109610 RGD:1303152 605173 HGNC:3345 "ENST00000302351.9|NM_003633.4" HGNC:29129 ENDOD1 endonuclease domain containing 1 protein-coding gene gene with protein product Approved 11q21 11q21 KIAA0830 2006-02-03 2023-01-20 23052 ENSG00000149218 OTTHUMG00000167835 uc001pfh.4 BC026191 NM_015036 CCDS41699 O94919 10048485 MGI:1919196 RGD:1310444 619568 HGNC:29129 "ENST00000278505.5|NM_015036.3" HGNC:3346 ENDOG endonuclease G protein-coding gene gene with protein product Approved 9q34.11 09q34.11 1994-09-29 2023-01-20 2021 ENSG00000167136 OTTHUMG00000020763 uc004bwc.4 X79444 NM_004435 CCDS6912 Q14249 7789991 MGI:1261433 RGD:1310763 600440 HGNC:3346 "ENST00000372642.5|NM_004435.2" -HGNC:14369 ENDOU endonuclease, poly(U) specific protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "PP11|P11|PRSS26" endonuclease, polyU-specific "Serine proteases|Endoribonucleases" "738|1687" 2010-02-05 2015-11-18 2023-01-20 8909 ENSG00000111405 OTTHUMG00000169670 uc001rpu.3 M32402 NM_006025.2 "CCDS53785|CCDS53784|CCDS8754" P21128 "2350438|1710108|15755742|18936097" MGI:97746 RGD:1593011 606720 HGNC:14369 "ENST00000422538.8|NM_001172439.2" +HGNC:14369 ENDOU endonuclease, poly(U) specific protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "PP11|P11|PRSS26" endonuclease, polyU-specific "Serine proteases|Endoribonucleases" "738|1687" 2010-02-05 2015-11-18 2023-01-20 8909 ENSG00000111405 OTTHUMG00000169670 uc001rpu.3 M32402 NM_006025.2 "CCDS53784|CCDS53785|CCDS8754" P21128 "2350438|1710108|15755742|18936097" MGI:97746 RGD:1593011 606720 HGNC:14369 "ENST00000422538.8|NM_001172439.2" HGNC:26640 ENDOV endonuclease V protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ35220 MicroRNA protein coding host genes 1691 2011-05-05 2023-01-20 284131 ENSG00000173818 OTTHUMG00000164638 uc021ueo.2 NM_173627 "CCDS54173|CCDS54172|CCDS54174" Q8N8Q3 12853604 MGI:2444688 RGD:1562414 619821 HGNC:26640 "ENST00000518137.6|NM_173627.5" -HGNC:56747 ENEMAL enhancer lncRNA neighbor of NEAT1 and MALAT1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 eRNA of the NEAT1-MALAT1-Locus Long non-coding RNAs with non-systematic symbols 1992 2023-02-20 2023-03-03 129810501 ENSG00000289883 34019552 -HGNC:3349 ENG endoglin protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "END|HHT1|CD105" "ORW1|ORW" Osler-Rendu-Weber syndrome 1 CD molecules 471 1993-03-03 2008-09-04 2023-01-20 2022 ENSG00000106991 OTTHUMG00000020723 uc004bsk.6 AF035753 NM_000118 "CCDS48029|CCDS75906|CCDS6880" P17813 "8404038|10548503" MGI:95392 RGD:1593188 "Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database|http://www.hhtmutation.org/|LRG_589|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_589.xml" 131195 121536 objectId:2895 CD105 HGNC:3349 "ENST00000373203.9|NM_001114753.3" HGNC:3349 +HGNC:56747 ENEMAL enhancer lncRNA neighbor of NEAT1 and MALAT1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 eRNA of the NEAT1-MALAT1-Locus Long non-coding RNAs with non-systematic symbols 1992 2023-02-20 2023-03-03 129810501 ENSG00000289883 NR_186313 34019552 +HGNC:3349 ENG endoglin protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "END|HHT1|CD105" "ORW1|ORW" Osler-Rendu-Weber syndrome 1 CD molecules 471 1993-03-03 2008-09-04 2023-01-20 2022 ENSG00000106991 OTTHUMG00000020723 uc004bsk.6 AF035753 NM_000118 "CCDS75906|CCDS48029|CCDS6880" P17813 "8404038|10548503" MGI:95392 RGD:1593188 "Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database|http://www.hhtmutation.org/|LRG_589|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_589.xml" 131195 121536 objectId:2895 CD105 HGNC:3349 "ENST00000373203.9|NM_001114753.3" HGNC:3349 HGNC:24622 ENGASE endo-beta-N-acetylglucosaminidase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ21865 "Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase|Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase" Glycoside hydrolases 1650 2009-03-03 2023-01-20 64772 ENSG00000167280 OTTHUMG00000167714 uc002jwv.5 AF512564 NM_022759 CCDS42394 Q8NFI3 "12114544|18586680" MGI:2443788 RGD:1310868 611898 3.2.1.96 HGNC:24622 "ENST00000579016.6|NM_001042573.3" HGNC:24838 ENHO energy homeostasis associated protein-coding gene gene with protein product Approved 9p13.3 09p13.3 UNQ470 adropin C9orf165 chromosome 9 open reading frame 165 2006-05-15 2008-12-10 2008-12-10 2023-01-20 375704 ENSG00000168913 OTTHUMG00000159589 uc003zun.2 BC022101 NM_198573 CCDS43795 Q6UWT2 "12975309|19041763" MGI:1916888 RGD:6487582 618556 ligandId:9573 HGNC:24838 "ENST00000399775.3|NM_198573.3" HGNC:25246 ENKD1 enkurin domain containing 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "DKFZP434A1319|FBB11" C16orf48 chromosome 16 open reading frame 48 2005-02-11 2012-10-09 2012-10-09 2023-01-20 84080 ENSG00000124074 OTTHUMG00000137550 uc002etw.2 BC008284 NM_032140 CCDS10844 Q9H0I2 "11230166|29257953" MGI:2142593 RGD:1307357 HGNC:25246 "ENST00000243878.9|NM_032140.3" @@ -7932,19 +7933,19 @@ HGNC:37943 ENO1P2 enolase 1 pseudogene 2 pseudogene pseudogene Approved 15q26.1 HGNC:37944 ENO1P3 enolase 1 pseudogene 3 pseudogene pseudogene Approved 3q21.2 03q21.2 enolase 1, (alpha) pseudogene 3 2010-03-11 2016-04-28 2016-04-28 100419069 ENSG00000243986 OTTHUMG00000159521 NG_022217 PGOHUM00000237744 HGNC:37944 HGNC:37945 ENO1P4 enolase 1 pseudogene 4 pseudogene pseudogene Approved 2q33.1 02q33.1 enolase 1, (alpha) pseudogene 4 2010-03-11 2016-04-28 2016-04-28 100885799 ENSG00000241790 OTTHUMG00000154527 NG_032049 HGNC:37945 HGNC:3353 ENO2 enolase 2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 NSE "gamma-enolase|neuronal enriched enolase|neuron specific enolase" enolase 2 (gamma, neuronal) Enolases 1603 2001-06-22 2016-04-28 2023-01-20 2026 ENSG00000111674 OTTHUMG00000168967 uc009zfi.2 M22349 NM_001975 CCDS8570 P09104 MGI:95394 RGD:2554 131360 4.2.1.11 HGNC:3353 "ENST00000229277.6|NM_001975.3" -HGNC:3354 ENO3 enolase 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "beta-enolase|muscle enriched enolase" "enolase 3, (beta, muscle)|enolase 3 (beta, muscle)" Enolases 1603 1990-03-21 2016-04-28 2023-01-20 2027 ENSG00000108515 OTTHUMG00000099394 uc002gac.5 X16504 NM_001193503 "CCDS11062|CCDS54070" P13929 MGI:95395 RGD:2555 131370 121551 4.2.1.11 HGNC:3354 "ENST00000519602.6|NM_053013.4" HGNC:3354 +HGNC:3354 ENO3 enolase 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "beta-enolase|muscle enriched enolase" "enolase 3, (beta, muscle)|enolase 3 (beta, muscle)" Enolases 1603 1990-03-21 2016-04-28 2023-01-20 2027 ENSG00000108515 OTTHUMG00000099394 uc002gac.5 X16504 NM_001193503 "CCDS54070|CCDS11062" P13929 MGI:95395 RGD:2555 131370 121551 4.2.1.11 HGNC:3354 "ENST00000519602.6|NM_053013.4" HGNC:3354 HGNC:31670 ENO4 enolase 4 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 AC023283.3 C10orf134 "chromosome 10 open reading frame 134|enolase family member 4" Enolases 1603 2004-05-27 2009-12-15 2018-02-16 2023-01-20 387712 ENSG00000188316 OTTHUMG00000019113 uc021pzj.1 NM_001242699 CCDS73206 A6NNW6 23446454 MGI:2441717 RGD:1308333 131375 4.2.1.11 HGNC:31670 "ENST00000341276.11|NM_001242699.2" -HGNC:24599 ENOPH1 enolase-phosphatase 1 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "MASA|E1|mtnC" "Enolase-phosphatase E1|acireductone synthase" HAD Asp-based non-protein phosphatases 1045 2007-01-26 2023-01-20 58478 ENSG00000145293 OTTHUMG00000130295 uc003hmv.4 NM_021204 "CCDS75154|CCDS3594" Q9UHY7 15843022 MGI:1915120 RGD:1309016 3.1.3.77 HGNC:24599 "ENST00000273920.8|NM_021204.5" +HGNC:24599 ENOPH1 enolase-phosphatase 1 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "MASA|E1|mtnC" "Enolase-phosphatase E1|acireductone synthase" HAD Asp-based non-protein phosphatases 1045 2007-01-26 2023-01-20 58478 ENSG00000145293 OTTHUMG00000130295 uc003hmv.4 NM_021204 "CCDS3594|CCDS75154" Q9UHY7 15843022 MGI:1915120 RGD:1309016 3.1.3.77 HGNC:24599 "ENST00000273920.8|NM_021204.5" HGNC:56617 ENOPH1P1 ENOPH1 pseudogene 1 pseudogene pseudogene Approved 3q28 03q28 2022-11-09 2022-11-09 647299 ENSG00000236182 NG_022234 PGOHUM00000299307 -HGNC:30365 ENOSF1 enolase superfamily member 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "HSRTSBETA|rTS|TYMSAS|FUCD" L-fuconate dehydratase 2005-01-26 2023-01-20 55556 ENSG00000132199 OTTHUMG00000131470 uc002kku.5 X67098 NM_017512 "CCDS11822|CCDS45821|CCDS11823" Q7L5Y1 "14508106|24697329" RGD:40958853 607427 4.2.1.68 HGNC:30365 "ENST00000647584.2|NM_017512.7" +HGNC:30365 ENOSF1 enolase superfamily member 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "HSRTSBETA|rTS|TYMSAS|FUCD" L-fuconate dehydratase 2005-01-26 2023-01-20 55556 ENSG00000132199 OTTHUMG00000131470 uc002kku.5 X67098 NM_017512 "CCDS45821|CCDS11822|CCDS11823" Q7L5Y1 "14508106|24697329" RGD:40958853 607427 4.2.1.68 HGNC:30365 "ENST00000647584.2|NM_017512.7" HGNC:25474 ENOX1 ecto-NOX disulfide-thiol exchanger 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "FLJ10094|PIG38|CNOX|cCNOX" ecto-NADPH oxidase disulfide-thiol exchanger 1 RNA binding motif containing 725 2007-03-23 2023-01-20 55068 ENSG00000120658 OTTHUMG00000016818 uc001uzc.5 EF432052 NM_017993 CCDS9389 Q8TC92 11360993 MGI:2444896 RGD:1306118 610914 HGNC:25474 "ENST00000690772.1|NM_001347969.2" HGNC:42396 ENOX1-AS1 ENOX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 ENOX1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874129 ENSG00000233821 OTTHUMG00000016819 uc058wrp.1 ENOX1-AS1 HGNC:42397 ENOX1-AS2 ENOX1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 ENOX1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874130 ENSG00000238189 OTTHUMG00000016817 uc058wro.1 NR_120399 ENOX1-AS2 HGNC:42397 -HGNC:2259 ENOX2 ecto-NOX disulfide-thiol exchanger 2 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "APK1|tNOX" "tumor-associated NADH oxidase|ecto-NADPH oxidase disulfide-thiol exchanger 2" COVA1 cytosolic ovarian carcinoma antigen 1 RNA binding motif containing 725 1999-11-22 2007-03-23 2007-03-23 2023-01-20 10495 ENSG00000165675 OTTHUMG00000022401 uc004evx.5 AF207881 NM_182314 "CCDS94664|CCDS14626|CCDS14627" Q16206 "8150545|11888291" MGI:2384799 RGD:1563643 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ENOX2 300282 HGNC:2259 "ENST00000394363.6|NM_006375.4" +HGNC:2259 ENOX2 ecto-NOX disulfide-thiol exchanger 2 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "APK1|tNOX" "tumor-associated NADH oxidase|ecto-NADPH oxidase disulfide-thiol exchanger 2" COVA1 cytosolic ovarian carcinoma antigen 1 RNA binding motif containing 725 1999-11-22 2007-03-23 2007-03-23 2023-01-20 10495 ENSG00000165675 OTTHUMG00000022401 uc004evx.5 AF207881 NM_182314 "CCDS14626|CCDS94664|CCDS14627" Q16206 "8150545|11888291" MGI:2384799 RGD:1563643 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ENOX2 300282 HGNC:2259 "ENST00000394363.6|NM_006375.4" HGNC:56096 ENOX2-AS1 ENOX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.1 Xq26.1 Antisense RNAs 1987 2022-01-05 2022-01-05 105373338 NR_135655 HGNC:3355 ENPEP glutamyl aminopeptidase protein-coding gene gene with protein product Approved 4q25 04q25 "gp160|CD249" glutamyl aminopeptidase (aminopeptidase A) "Aminopeptidases|CD molecules|M1 metallopeptidases" "104|471|1437" 1993-04-15 2016-01-06 2023-01-20 2028 ENSG00000138792 OTTHUMG00000132546 uc003iab.5 L12468 NM_001379611 CCDS3691 Q07075 9268642 MGI:106645 RGD:621228 138297 M01.003 objectId:1568 CD249 3.4.11.7 HGNC:3355 "ENST00000265162.10|NM_001977.4" HGNC:3356 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "PC-1|PCA1" "NPPS|M6S1|PDNP1" Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 1992-12-08 2023-01-20 5167 ENSG00000197594 OTTHUMG00000015572 uc011ecf.2 M57736 NM_006208 CCDS5150 P22413 1315502 MGI:97370 RGD:628825 LRG_1288|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1288.xml 173335 121553 "3.1.4.1|3.6.1.9" HGNC:3356 "ENST00000647893.1|NM_006208.3" HGNC:3356 -HGNC:3357 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "ATX|PD-IALPHA" autotaxin PDNP2 Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 1995-08-10 2008-08-01 2023-01-20 5168 ENSG00000136960 OTTHUMG00000164995 uc003yos.3 D45421 NM_001040092 "CCDS83317|CCDS34936|CCDS6329|CCDS47914" Q13822 8586446 MGI:1321390 RGD:69298 601060 470280 objectId:2901 "3.1.4.1|3.6.1.9" HGNC:3357 "ENST00000075322.11|NM_001040092.3" +HGNC:3357 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "ATX|PD-IALPHA" autotaxin PDNP2 Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 1995-08-10 2008-08-01 2023-01-20 5168 ENSG00000136960 OTTHUMG00000164995 uc003yos.3 D45421 NM_001040092 "CCDS47914|CCDS6329|CCDS34936|CCDS83317" Q13822 8586446 MGI:1321390 RGD:69298 601060 470280 objectId:2901 "3.1.4.1|3.6.1.9" HGNC:3357 "ENST00000075322.11|NM_001040092.3" HGNC:3358 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "PD-IBETA|gp130RB13-6|B10|CD203c" PDNP3 "CD molecules|Ectonucleotide pyrophosphatase/phosphodiesterase family" "471|1821" 1995-08-10 2023-01-20 5169 ENSG00000154269 OTTHUMG00000016292 uc003qcu.5 AF005632 NM_005021 CCDS5148 O14638 9344668 MGI:2143702 RGD:708511 602182 CD203c "3.1.4.1|3.6.1.9" HGNC:3358 "ENST00000357639.8|NM_005021.5" HGNC:3359 ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "NPP4|KIAA0879|AP3Aase" "AP3A hydrolase|Bis(5'-adenosyl)-triphosphatase" ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 2000-08-24 2017-09-14 2023-01-20 22875 ENSG00000001561 OTTHUMG00000014779 uc003oxy.4 AB020686 NM_014936 CCDS34468 Q9Y6X5 "11027689|22995898" MGI:2682634 RGD:1308689 617000 HGNC:3359 "ENST00000321037.5|NM_014936.5" HGNC:13717 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 2000-10-18 2019-02-27 2023-01-20 59084 ENSG00000112796 OTTHUMG00000014781 uc003oya.2 AL035701 NM_001290072 CCDS4915 Q9UJA9 "11027689|28898552" MGI:1933830 RGD:1359199 617001 HGNC:13717 "ENST00000371383.7|NM_001290072.2" @@ -7965,76 +7966,76 @@ HGNC:48697 ENPP7P12 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogen HGNC:48696 ENPP7P13 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 13 pseudogene pseudogene Approved 16p11.2 16p11.2 DUNQU1 2013-06-06 2014-11-18 104644205 ENSG00000261580 OTTHUMG00000176353 JF934746 NR_130771 24141781 PGOHUM00000293817 HGNC:48696 HGNC:51387 ENPP7P14 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 14 pseudogene pseudogene Approved 16p13.3 16p13.3 2014-11-18 2017-01-11 106481720 ENSG00000273963 OTTHUMG00000187875 NG_043377 PGOHUM00000293410 HGNC:51387 HGNC:55616 ENPP7P15 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 15 pseudogene pseudogene Approved 11p15.4 11p15.4 2021-06-18 2021-06-18 121832813 ENSG00000284605 NG_084026 PGOHUM00000290342 -HGNC:3360 ENSA endosulfine alpha protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "MGC4319|MGC8394|MGC78563|ARPP-19e" 1998-08-21 2023-01-20 2029 ENSG00000143420 OTTHUMG00000035004 uc001eve.4 X99906 NM_207042 "CCDS963|CCDS962|CCDS960|CCDS964|CCDS961|CCDS965|CCDS959|CCDS958" O43768 9653196 MGI:1891189 RGD:62007 603061 HGNC:3360 "ENST00000369014.10|NM_004436.4" +HGNC:3360 ENSA endosulfine alpha protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "MGC4319|MGC8394|MGC78563|ARPP-19e" 1998-08-21 2023-01-20 2029 ENSG00000143420 OTTHUMG00000035004 uc001eve.4 X99906 NM_207042 "CCDS961|CCDS960|CCDS963|CCDS964|CCDS962|CCDS965|CCDS958|CCDS959" O43768 9653196 MGI:1891189 RGD:62007 603061 HGNC:3360 "ENST00000369014.10|NM_004436.4" HGNC:16588 ENSAP1 endosulfine alpha pseudogene 1 pseudogene pseudogene Approved 20p12.1 20p12.1 dJ822J19.1 ENSAP endosulfine alpha pseudogene 2001-09-17 2009-11-25 2009-11-25 2014-11-19 170511 ENSG00000224274 OTTHUMG00000031923 AL050324 NG_054905 PGOHUM00000247449 HGNC:16588 HGNC:20011 ENSAP2 endosulfine alpha pseudogene 2 pseudogene pseudogene Approved 14q31.1 14q31.1 2003-01-13 2014-11-19 319114 ENSG00000259032 OTTHUMG00000171388 NG_002495 PGOHUM00000247876 HGNC:20011 HGNC:37946 ENSAP3 endosulfine alpha pseudogene 3 pseudogene pseudogene Approved 2q35 02q35 2010-03-12 2014-11-19 100128203 ENSG00000177261 OTTHUMG00000154772 NG_023446 PGOHUM00000241105 HGNC:37946 HGNC:26352 ENTHD1 ENTH domain containing 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 FLJ25421 2006-06-26 2023-01-20 150350 ENSG00000176177 OTTHUMG00000151098 uc003ayg.3 AK093154 NM_152512 CCDS13998 Q8IYW4 12477932 MGI:2686088 RGD:1587874 HGNC:26352 "ENST00000325157.7|NM_152512.4" -HGNC:3363 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "NTPDase-1|ATPDase|SPG64" CD39 "CD molecules|Ectonucleoside triphosphate diphosphohydrolase family" "471|1822" 1994-12-09 2023-03-15 953 ENSG00000138185 OTTHUMG00000018818 uc001klh.5 S73813 NM_001776 "CCDS53556|CCDS7444|CCDS53557|CCDS41554" P49961 "9226376|24482476" MGI:102805 RGD:69265 601752 403364 objectId:2888 CD39 HGNC:3363 "ENST00000371205.5|NM_001776.6" HGNC:3363 +HGNC:3363 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "NTPDase-1|ATPDase|SPG64" CD39 "CD molecules|Ectonucleoside triphosphate diphosphohydrolase family" "471|1822" 1994-12-09 2023-03-15 953 ENSG00000138185 OTTHUMG00000018818 uc001klh.5 S73813 NM_001776 "CCDS53557|CCDS7444|CCDS53556|CCDS41554" P49961 "9226376|24482476" MGI:102805 RGD:69265 601752 403364 objectId:2888 CD39 HGNC:3363 "ENST00000371205.5|NM_001776.6" HGNC:3363 HGNC:45203 ENTPD1-AS1 ENTPD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.1 10q24.1 Antisense RNAs 1987 2013-03-07 2013-03-07 728558 ENSG00000226688 OTTHUMG00000018822 uc001klg.3 NR_038444 ENTPD1-AS1 HGNC:45203 -HGNC:3364 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 NTPDase-2 "CD39-like-1|ecto-ATPase" CD39L1 Ectonucleoside triphosphate diphosphohydrolase family 1822 1998-02-09 2023-01-20 954 ENSG00000054179 OTTHUMG00000020953 uc004ckw.3 U91510 NM_203468 "CCDS7026|CCDS7025" Q9Y5L3 9271669 MGI:1096863 RGD:69266 602012 objectId:2889 HGNC:3364 "ENST00000355097.7|NM_203468.3" +HGNC:3364 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 NTPDase-2 "CD39-like-1|ecto-ATPase" CD39L1 Ectonucleoside triphosphate diphosphohydrolase family 1822 1998-02-09 2023-01-20 954 ENSG00000054179 OTTHUMG00000020953 uc004ckw.3 U91510 NM_203468 "CCDS7025|CCDS7026" Q9Y5L3 9271669 MGI:1096863 RGD:69266 602012 objectId:2889 HGNC:3364 "ENST00000355097.7|NM_203468.3" HGNC:3365 ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "NTPDase-3|HB6" CD39L3 Ectonucleoside triphosphate diphosphohydrolase family 1822 1998-03-20 2023-01-20 956 ENSG00000168032 OTTHUMG00000131390 uc003ckd.5 AF039917 NM_001248 "CCDS2691|CCDS74919" O75355 9676430 MGI:1321386 RGD:631326 603161 HGNC:3365 "ENST00000301825.8|NM_001248.4" HGNC:26710 ENTPD3-AS1 ENTPD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 FLJ36665 ENTPD3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 285266 ENSG00000223797 OTTHUMG00000156074 uc003cke.5 NR_040100 12477932 ENTPD3-AS1 HGNC:26710 -HGNC:14573 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "LALP70|LAP70|KIAA0392|NTPDase-4|UDPase" LYSAL1 lysosomal apyrase-like 1 Ectonucleoside triphosphate diphosphohydrolase family 1822 2001-05-08 2004-09-22 2004-09-22 2023-01-20 9583 ENSG00000197217 OTTHUMG00000097852 uc003xdl.4 AJ131358 NM_004901 "CCDS6041|CCDS47827" Q9Y227 "10393803|9205841" "MGI:1914714|MGI:5435040" RGD:1309511 607577 HGNC:14573 "ENST00000358689.9|NM_004901.5" +HGNC:14573 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "LALP70|LAP70|KIAA0392|NTPDase-4|UDPase" LYSAL1 lysosomal apyrase-like 1 Ectonucleoside triphosphate diphosphohydrolase family 1822 2001-05-08 2004-09-22 2004-09-22 2023-01-20 9583 ENSG00000197217 OTTHUMG00000097852 uc003xdl.4 AJ131358 NM_004901 "CCDS47827|CCDS6041" Q9Y227 "10393803|9205841" "MGI:1914714|MGI:5435040" RGD:1309511 607577 HGNC:14573 "ENST00000358689.9|NM_004901.5" HGNC:55536 ENTPD4-DT ENTPD4 divergent transcript non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 Divergent transcripts 1990 2021-03-24 2021-03-24 121009645 ENSG00000253390 HGNC:3367 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) protein-coding gene gene with protein product Approved 14q24.3 14q24.3 NTPDase-5 "CD39L4|PCPH" "proto-oncogene CPH|ectonucleoside triphosphate diphosphohydrolase 5" Ectonucleoside triphosphate diphosphohydrolase family 1822 1998-03-23 2019-02-27 2023-01-20 957 ENSG00000187097 OTTHUMG00000171201 uc010tuo.3 AF039918 NM_001249 "CCDS81825|CCDS9825" O75356 "9271669|9676430|23921441" MGI:1321385 RGD:735219 603162 HGNC:3367 "ENST00000334696.11|NM_001249.5" HGNC:3368 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "NTPDase-6|dJ738P15.3" "CD39L2|IL6ST2" "interleukin 6 signal transducer-2|ectonucleoside triphosphate diphosphohydrolase 6 (putative)" Ectonucleoside triphosphate diphosphohydrolase family 1822 1998-03-20 2019-02-28 2023-01-20 955 ENSG00000197586 OTTHUMG00000032116 uc002wuj.3 AF039916 NM_001114089 O75354 "9676430|14529283" MGI:1202295 RGD:619725 603160 3.6.1.6 HGNC:3368 "ENST00000376652.9|NM_001247.5" HGNC:19745 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "LALP1|FLJ30978" Ectonucleoside triphosphate diphosphohydrolase family 1822 2004-02-17 2023-01-20 57089 ENSG00000198018 OTTHUMG00000018888 uc001kqa.5 AF269255 NM_020354 CCDS7480 Q9NQZ7 11278936 MGI:2135885 RGD:1310638 616753 HGNC:19745 "ENST00000370489.5|NM_020354.5" -HGNC:24860 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "UNQ2492|NTPDase-8" GLSR2492 Ectonucleoside triphosphate diphosphohydrolase family 1822 2005-04-26 2023-01-20 377841 ENSG00000188833 OTTHUMG00000131831 uc004cmw.3 AY359088 NM_198585 "CCDS43913|CCDS7043" Q5MY95 12975309 MGI:1919340 RGD:1561793 616748 HGNC:24860 "ENST00000371506.7|NM_001033113.2" -HGNC:10667 ENTR1 endosome associated trafficking regulator 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 NY-CO-3 SDCCAG3 serologically defined colon cancer antigen 3 1999-08-25 2018-04-30 2018-04-30 2023-01-20 10807 ENSG00000165689 OTTHUMG00000020928 uc004chj.4 AF039688 NM_006643 "CCDS43904|CCDS43903|CCDS6999" Q96C92 9610721 MGI:1915362 RGD:1305930 618289 HGNC:10667 "ENST00000357365.8|NM_001039707.2" +HGNC:24860 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "UNQ2492|NTPDase-8" GLSR2492 Ectonucleoside triphosphate diphosphohydrolase family 1822 2005-04-26 2023-01-20 377841 ENSG00000188833 OTTHUMG00000131831 uc004cmw.3 AY359088 NM_198585 "CCDS7043|CCDS43913" Q5MY95 12975309 MGI:1919340 RGD:1561793 616748 HGNC:24860 "ENST00000371506.7|NM_001033113.2" +HGNC:10667 ENTR1 endosome associated trafficking regulator 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 NY-CO-3 SDCCAG3 serologically defined colon cancer antigen 3 1999-08-25 2018-04-30 2018-04-30 2023-01-20 10807 ENSG00000165689 OTTHUMG00000020928 uc004chj.4 AF039688 NM_006643 "CCDS43904|CCDS6999|CCDS43903" Q96C92 9610721 MGI:1915362 RGD:1305930 618289 HGNC:10667 "ENST00000357365.8|NM_001039707.2" HGNC:29375 ENTR1P1 ENTR1 pseudogene 1 pseudogene pseudogene Approved 18q21.32 18q21.32 "SDCCAG3L|SDCCAG3P1" "serologically defined colon cancer antigen 3-like|serologically defined colon cancer antigen 3 pseudogene 1" 2005-01-18 2019-03-28 2019-03-28 2019-03-28 388478 ENSG00000256704 OTTHUMG00000179952 NG_005510 PGOHUM00000294671 HGNC:29375 HGNC:39164 ENTR1P2 ENTR1 pseudogene 2 pseudogene pseudogene Approved 1q25.1 01q25.1 SDCCAG3P2 serologically defined colon cancer antigen 3 pseudogene 2 2010-10-27 2019-03-28 2019-03-28 2019-03-28 646891 ENSG00000181101 OTTHUMG00000034951 NG_022743 PGOHUM00000244346 HGNC:39164 HGNC:24820 ENTREP1 endosomal transmembrane epsin interactor 1 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 "X123|ENTREP" endosomal transmembrane binding with epsin "C9orf61|FAM189A2" "chromosome 9 open reading frame 61|family with sequence similarity 189, member A2|family with sequence similarity 189 member A2" 2004-01-06 2022-05-30 2022-05-30 2023-01-20 9413 ENSG00000135063 OTTHUMG00000019979 uc010mon.1 L27479 NM_004816 "CCDS87658|CCDS6629" Q15884 "7951235|34927784" MGI:2685813 RGD:1307524 607710 HGNC:24820 "ENST00000303068.14|NM_001347995.2" HGNC:24820 HGNC:29075 ENTREP2 endosomal transmembrane epsin interactor 2 protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "KIAA0574|TMEM228" transmembrane protein 228 FAM189A1 "family with sequence similarity 189, member A1|family with sequence similarity 189 member A1" 2009-07-09 2022-05-30 2022-05-30 2023-01-20 23359 ENSG00000104059 OTTHUMG00000172185 uc010azk.2 NM_015307 CCDS45198 O60320 9628581 MGI:1917888 RGD:1592985 620052 HGNC:29075 "ENST00000261275.5|NM_015307.2" -HGNC:1233 ENTREP3 endosomal transmembrane epsin interactor 3 protein-coding gene gene with protein product Approved 1q22 01q22 cote1 "C1orf2|FAM189B" "chromosome 1 open reading frame 2|family with sequence similarity 189, member B|family with sequence similarity 189 member B" 1998-10-14 2022-05-30 2022-05-30 2023-01-20 10712 ENSG00000160767 OTTHUMG00000035844 uc001fjm.4 AF070550 NM_006589 "CCDS1104|CCDS58035|CCDS1103" P81408 "9331372|15064722" MGI:1915771 RGD:1306107 619447 HGNC:1233 "ENST00000361361.7|NM_006589.3" +HGNC:1233 ENTREP3 endosomal transmembrane epsin interactor 3 protein-coding gene gene with protein product Approved 1q22 01q22 cote1 "C1orf2|FAM189B" "chromosome 1 open reading frame 2|family with sequence similarity 189, member B|family with sequence similarity 189 member B" 1998-10-14 2022-05-30 2022-05-30 2023-01-20 10712 ENSG00000160767 OTTHUMG00000035844 uc001fjm.4 AF070550 NM_006589 "CCDS1103|CCDS1104|CCDS58035" P81408 "9331372|15064722" MGI:1915771 RGD:1306107 619447 HGNC:1233 "ENST00000361361.7|NM_006589.3" HGNC:24449 ENY2 ENY2 transcription and export complex 2 subunit protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "DC6|FLJ20480|Sus1" "enhancer of yellow 2 homolog (Drosophila)|ENY2, transcription and export complex 2 subunit" "SAGA complex|Transcription and export complex 2" "1059|1276" 2005-04-29 2019-01-25 2023-01-20 56943 ENSG00000120533 OTTHUMG00000164933 uc003ync.4 NM_020189 "CCDS55270|CCDS43762" Q9NPA8 11438676 MGI:1919286 RGD:1596439 619015 HGNC:24449 "ENST00000521688.6|NM_020189.6" -HGNC:28526 EOGT EGF domain specific O-linked N-acetylglucosamine transferase protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "AER61|FLJ33770" AER61 glycosyltransferase C3orf64 "chromosome 3 open reading frame 64|EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase" O-linked N-acetylglucosaminyltransferases 446 2006-03-08 2012-05-21 2016-04-04 2023-01-20 285203 ENSG00000163378 OTTHUMG00000156279 uc003dnl.5 AK091089 NM_173654 "CCDS2908|CCDS63684" Q5NDL2 22310717 MGI:2141669 RGD:1359357 614789 331958 2.4.1.255 HGNC:28526 "ENST00000383701.8|NM_001278689.2" HGNC:28526 -HGNC:55605 EOGT-DT EOGT divergent transcript non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 Divergent transcripts 1990 2021-06-07 2021-06-07 121676928 ENSG00000244513 +HGNC:28526 EOGT EGF domain specific O-linked N-acetylglucosamine transferase protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "AER61|FLJ33770" AER61 glycosyltransferase C3orf64 "chromosome 3 open reading frame 64|EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase" O-linked N-acetylglucosaminyltransferases 446 2006-03-08 2012-05-21 2016-04-04 2023-01-20 285203 ENSG00000163378 OTTHUMG00000156279 uc003dnl.5 AK091089 NM_173654 "CCDS63684|CCDS2908" Q5NDL2 22310717 MGI:2141669 RGD:1359357 614789 331958 2.4.1.255 HGNC:28526 "ENST00000383701.8|NM_001278689.2" HGNC:28526 +HGNC:55605 EOGT-DT EOGT divergent transcript non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 Divergent transcripts 1990 2021-06-07 2021-06-07 121676928 ENSG00000244513 NR_185971 HGNC:28089 EOLA1 endothelium and lymphocyte associated ASCH domain 1 protein-coding gene gene with protein product Approved Xq28 Xq28 endothelial-overexpressed lipopolysaccharide-associated factor 1 "CXorf40|CXorf40A" "chromosome X open reading frame 40|chromosome X open reading frame 40A" 2004-09-06 2019-11-01 2019-11-01 2023-01-20 91966 ENSG00000197620 OTTHUMG00000022622 uc065bnd.1 AF011889 NM_178124 "CCDS14687|CCDS55522" Q8TE69 "31007603|24916366|31569543" MGI:1915868 300954 HGNC:28089 "ENST00000393985.8|NM_001171907.3" HGNC:44265 EOLA1-DT EOLA1 divergent transcript non-coding RNA RNA, long non-coding Approved Xq28 Xq28 gene W LINC00893 long intergenic non-protein coding RNA 893 Divergent transcripts 1990 2013-05-17 2021-06-24 2021-06-24 2021-06-24 100131434 ENSG00000241769 OTTHUMG00000022617 "AK124040|AF050144" NR_027455 10737977 LINC00893 HGNC:44265 HGNC:17402 EOLA2 endothelium and lymphocyte associated ASCH domain 2 protein-coding gene gene with protein product Approved Xq28 Xq28 CXorf40B chromosome X open reading frame 40B 2005-09-13 2019-11-01 2019-11-01 2023-01-20 541578 ENSG00000197021 OTTHUMG00000034327 uc004fdy.4 BC009523 NM_001013845 CCDS35426 Q96DE9 MGI:1915868 RGD:1562747 HGNC:17402 "ENST00000370406.8|NM_001013845.2" HGNC:48579 EOLA2-DT EOLA2 divergent transcript non-coding RNA RNA, long non-coding Approved Xq28 Xq28 LINC00894 long intergenic non-protein coding RNA 894 Divergent transcripts 1990 2013-05-17 2021-06-30 2021-06-30 2021-06-30 100272228 ENSG00000235703 OTTHUMG00000022638 NR_027456 29738694 LINC00894 HGNC:48579 -HGNC:3372 EOMES eomesodermin protein-coding gene gene with protein product Approved 3p24.1 03p24.1 TBR2 T-box brain2 eomesodermin (Xenopus laevis) homolog T-box transcription factors 766 1998-09-15 2010-06-24 2023-01-20 8320 ENSG00000163508 OTTHUMG00000130570 uc003cdx.5 BC025363 NM_005442 "CCDS2646|CCDS63585|CCDS63584" O95936 "9888994|9434949" MGI:1201683 RGD:1359706 604615 181116 HGNC:3372 "ENST00000449599.4|NM_001278182.2" HGNC:3372 +HGNC:3372 EOMES eomesodermin protein-coding gene gene with protein product Approved 3p24.1 03p24.1 TBR2 T-box brain2 eomesodermin (Xenopus laevis) homolog T-box transcription factors 766 1998-09-15 2010-06-24 2023-01-20 8320 ENSG00000163508 OTTHUMG00000130570 uc003cdx.5 BC025363 NM_005442 "CCDS63585|CCDS63584|CCDS2646" O95936 "9888994|9434949" MGI:1201683 RGD:1359706 604615 181116 HGNC:3372 "ENST00000449599.4|NM_001278182.2" HGNC:3372 HGNC:3373 EP300 E1A binding protein p300 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "p300|KAT3B" histone acetyltransferase p300 "Zinc fingers ZZ-type|Lysine acetyltransferases|Bromodomain containing" "91|486|1232" 1998-07-31 2023-01-20 2033 ENSG00000100393 OTTHUMG00000150937 uc003azl.6 U01877 NM_001429 "CCDS14010|CCDS93173" Q09472 7523245 MGI:1276116 RGD:620036 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EP300|LRG_1422|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1422.xml" EP300 602700 121560 objectId:2735 HGNC:3373 "ENST00000263253.9|NM_001429.4" HGNC:3373 HGNC:50504 EP300-AS1 EP300 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Antisense RNAs 1987 2014-05-12 2014-05-12 101927279 ENSG00000231993 OTTHUMG00000150941 NR_110514 EP300-AS1 HGNC:50504 HGNC:11958 EP400 E1A binding protein p400 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "CAGH32|KIAA1498|P400|KIAA1818|DKFZP434I225" hDomino(p400) TNRC12 trinucleotide repeat containing 12 "Myb/SANT domain containing|Tip60/Nua4 histone acetyltransferase complex subunits|Small nucleolar RNA protein coding host genes" "532|1634|1835" 2000-01-27 2002-02-08 2002-02-05 2023-01-20 57634 ENSG00000183495 OTTHUMG00000187346 uc001ujn.3 U80743 NM_015409 CCDS31929 Q96L91 "9225980|11509179" MGI:1276124 RGD:1304733 606265 HGNC:11958 "ENST00000389561.7|NM_015409.5" HGNC:26602 EP400P1 EP400 pseudogene 1 pseudogene pseudogene Approved 12q24.33 12q24.33 FLJ33915 EP400NL EP400 N-terminal like 2006-02-10 2017-11-27 2017-11-27 2023-03-15 347918 ENSG00000185684 OTTHUMG00000168251 uc001ujs.5 AK091234 NR_003290 Q6ZTU2 12477932 HGNC:26602 HGNC:3374 EPAS1 endothelial PAS domain protein 1 protein-coding gene gene with protein product Approved 2p21 02p21 "MOP2|PASD2|HIF2A|HLF|bHLHe73" HIF-1 alpha-like factor "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1998-05-29 2023-01-20 2034 ENSG00000116016 OTTHUMG00000128818 uc002ruv.3 U81984 NM_001430 CCDS1825 Q99814 "9000051|9079689|18378852" MGI:109169 RGD:68404 EPAS1 603349 183913 objectId:3148 HGNC:3374 "ENST00000263734.5|NM_001430.5" HGNC:3374 -HGNC:3377 EPB41 erythrocyte membrane protein band 4.1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 4.1R EL1 elliptocytosis 1, RH-linked "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1986-01-01 2014-05-09 2023-03-15 2035 ENSG00000159023 OTTHUMG00000003644 uc001brm.2 BC039079 NM_203342 "CCDS331|CCDS90897|CCDS330|CCDS90900|CCDS90899|CCDS90902|CCDS90901|CCDS90898|CCDS53288|CCDS53289|CCDS85947" P11171 9828140 MGI:95401 RGD:1564762 130500 121563 objectId:3151 HGNC:3377 "ENST00000343067.9|NM_001376013.1" HGNC:3377 -HGNC:3378 EPB41L1 erythrocyte membrane protein band 4.1 like 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "KIAA0338|4.1N" "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1997-11-27 2016-04-01 2023-01-20 2036 ENSG00000088367 OTTHUMG00000032378 uc002xfb.4 AB002336 NM_012156 "CCDS58770|CCDS13272|CCDS13271|CCDS58771" Q9H4G0 "9570967|9828140" MGI:103010 RGD:71087 602879 293091 HGNC:3378 "ENST00000338074.7|NM_012156.2" HGNC:3378 +HGNC:3377 EPB41 erythrocyte membrane protein band 4.1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 4.1R EL1 elliptocytosis 1, RH-linked "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1986-01-01 2014-05-09 2023-03-15 2035 ENSG00000159023 OTTHUMG00000003644 uc001brm.2 BC039079 NM_203342 "CCDS90900|CCDS90902|CCDS53289|CCDS90897|CCDS90898|CCDS85947|CCDS90899|CCDS331|CCDS90901|CCDS330|CCDS53288" P11171 9828140 MGI:95401 RGD:1564762 130500 121563 objectId:3151 HGNC:3377 "ENST00000343067.9|NM_001376013.1" HGNC:3377 +HGNC:3378 EPB41L1 erythrocyte membrane protein band 4.1 like 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "KIAA0338|4.1N" "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1997-11-27 2016-04-01 2023-01-20 2036 ENSG00000088367 OTTHUMG00000032378 uc002xfb.4 AB002336 NM_012156 "CCDS13272|CCDS13271|CCDS58771|CCDS58770" Q9H4G0 "9570967|9828140" MGI:103010 RGD:71087 602879 293091 HGNC:3378 "ENST00000338074.7|NM_012156.2" HGNC:3378 HGNC:55728 EPB41L1-AS1 EPB41L1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 Antisense RNAs 1987 2021-07-16 2021-07-16 100130373 ENSG00000232406 NR_147703 -HGNC:3379 EPB41L2 erythrocyte membrane protein band 4.1 like 2 protein-coding gene gene with protein product Approved 6q23.1-q23.2 06q23.1-q23.2 "4.1-G|4.1G" "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1998-06-04 2016-04-01 2023-01-20 2037 ENSG00000079819 OTTHUMG00000015560 uc003qch.3 AF027299 NM_001135554 "CCDS59037|CCDS87440|CCDS56450|CCDS94000|CCDS47474|CCDS87439|CCDS5141" O43491 "9598318|9828140" MGI:103009 RGD:1563977 603237 HGNC:3379 "ENST00000337057.8|NM_001431.4" -HGNC:3380 EPB41L3 erythrocyte membrane protein band 4.1 like 3 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "DAL1|KIAA0987|4.1B" "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1998-12-16 2016-04-01 2023-01-20 23136 ENSG00000082397 OTTHUMG00000131562 uc060naf.2 AB023204 NM_012307 "CCDS11838|CCDS82237|CCDS62382|CCDS82236|CCDS62381" Q9Y2J2 "9828140|9892180" MGI:103008 RGD:71089 605331 HGNC:3380 "ENST00000341928.7|NM_012307.5" +HGNC:3379 EPB41L2 erythrocyte membrane protein band 4.1 like 2 protein-coding gene gene with protein product Approved 6q23.1-q23.2 06q23.1-q23.2 "4.1-G|4.1G" "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1998-06-04 2016-04-01 2023-01-20 2037 ENSG00000079819 OTTHUMG00000015560 uc003qch.3 AF027299 NM_001135554 "CCDS94000|CCDS87440|CCDS87439|CCDS47474|CCDS5141|CCDS59037|CCDS56450" O43491 "9598318|9828140" MGI:103009 RGD:1563977 603237 HGNC:3379 "ENST00000337057.8|NM_001431.4" +HGNC:3380 EPB41L3 erythrocyte membrane protein band 4.1 like 3 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "DAL1|KIAA0987|4.1B" "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1998-12-16 2016-04-01 2023-01-20 23136 ENSG00000082397 OTTHUMG00000131562 uc060naf.2 AB023204 NM_012307 "CCDS62381|CCDS11838|CCDS82236|CCDS82237|CCDS62382" Q9Y2J2 "9828140|9892180" MGI:103008 RGD:71089 605331 HGNC:3380 "ENST00000341928.7|NM_012307.5" HGNC:13278 EPB41L4A erythrocyte membrane protein band 4.1 like 4A protein-coding gene gene with protein product Approved 5q22.1-q22.2 05q22.1-q22.2 NBL4 FERM domain containing 1293 2002-11-27 2023-01-20 64097 ENSG00000129595 OTTHUMG00000162902 uc063fzu.1 AB030240 NM_001347887 CCDS43350 Q9HCS5 10874211 MGI:103007 RGD:1306034 612141 HGNC:13278 "ENST00000261486.6|NM_022140.5" HGNC:30749 EPB41L4A-AS1 EPB41L4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q22.1 05q22.1 TIGA1 transcript induced by growth arrest 1 "C5orf26|NCRNA00219" "chromosome 5 open reading frame 26|non-protein coding RNA 219|EPB41L4A antisense RNA 1 (non-protein coding)" "Small nucleolar RNA non-coding host genes|Antisense RNAs" "1839|1987" 2006-07-31 2011-08-11 2012-08-15 2023-03-15 114915 ENSG00000224032 OTTHUMG00000128803 uc003kpq.3 AB048207 NR_015370 "27980086|30796006" EPB41L4A-AS1 HGNC:30749 HGNC:25643 EPB41L4A-DT EPB41L4A divergent transcript non-coding RNA RNA, long non-coding Approved 5q22.2 05q22.2 FLJ11235 EPB41L4A-AS2 EPB41L4A antisense RNA 2 (head to head) Divergent transcripts 1990 2013-07-26 2018-03-22 2018-03-22 2018-07-20 54508 ENSG00000278921 OTTHUMG00000169519 NR_027706 26980733 EPB41L4A-AS2 HGNC:25643 -HGNC:19818 EPB41L4B erythrocyte membrane protein band 4.1 like 4B protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "EHM2|LULU2" FERM domain containing 1293 2002-11-27 2023-01-20 54566 ENSG00000095203 OTTHUMG00000020470 uc004bdz.3 AB032179 NM_018424 "CCDS43860|CCDS43859" Q9H329 10783258 MGI:1859149 RGD:1562988 610340 HGNC:19818 "ENST00000374566.8|NM_019114.5" -HGNC:19819 EPB41L5 erythrocyte membrane protein band 4.1 like 5 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "KIAA1548|FLJ12957|BE37|YMO1|YRT|LULU|LULU1" yurt homolog (Drosophila) FERM domain containing 1293 2002-11-27 2023-01-20 57669 ENSG00000115109 OTTHUMG00000131433 uc002tmg.4 AK023019 NM_020909 "CCDS82506|CCDS2130|CCDS54393|CCDS54392" Q9HCM4 MGI:103006 RGD:1311366 611730 HGNC:19819 "ENST00000263713.10|NM_020909.4" +HGNC:19818 EPB41L4B erythrocyte membrane protein band 4.1 like 4B protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "EHM2|LULU2" FERM domain containing 1293 2002-11-27 2023-01-20 54566 ENSG00000095203 OTTHUMG00000020470 uc004bdz.3 AB032179 NM_018424 "CCDS43859|CCDS43860" Q9H329 10783258 MGI:1859149 RGD:1562988 610340 HGNC:19818 "ENST00000374566.8|NM_019114.5" +HGNC:19819 EPB41L5 erythrocyte membrane protein band 4.1 like 5 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "KIAA1548|FLJ12957|BE37|YMO1|YRT|LULU|LULU1" yurt homolog (Drosophila) FERM domain containing 1293 2002-11-27 2023-01-20 57669 ENSG00000115109 OTTHUMG00000131433 uc002tmg.4 AK023019 NM_020909 "CCDS2130|CCDS82506|CCDS54392|CCDS54393" Q9HCM4 MGI:103006 RGD:1311366 611730 HGNC:19819 "ENST00000263713.10|NM_020909.4" HGNC:3381 EPB42 erythrocyte membrane protein band 4.2 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 "PA|MGC116735|MGC116737" Erythrocyte surface protein band 4.2 Transglutaminases 773 1991-05-21 2023-01-20 2038 ENSG00000166947 OTTHUMG00000130701 uc001zra.5 M60298 NM_000119 "CCDS10093|CCDS45249" P16452 1284644 MGI:95402 RGD:1305306 LRG_1171|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1171.xml 177070 159566 HGNC:3381 "ENST00000441366.7|NM_001114134.2" HGNC:3381 -HGNC:19876 EPC1 enhancer of polycomb homolog 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 Epl1 enhancer of polycomb homolog 1 (Drosophila) Tip60/Nua4 histone acetyltransferase complex subunits 1634 2002-11-28 2016-02-01 2023-01-20 80314 ENSG00000120616 OTTHUMG00000017925 uc001iwh.3 AF277374 NM_001272004 "CCDS73083|CCDS60511|CCDS7172" Q9H2F5 10976108 MGI:1278322 RGD:2324280 610999 HGNC:19876 "ENST00000319778.11|NM_001272004.3" +HGNC:19876 EPC1 enhancer of polycomb homolog 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 Epl1 enhancer of polycomb homolog 1 (Drosophila) Tip60/Nua4 histone acetyltransferase complex subunits 1634 2002-11-28 2016-02-01 2023-01-20 80314 ENSG00000120616 OTTHUMG00000017925 uc001iwh.3 AF277374 NM_001272004 "CCDS60511|CCDS7172|CCDS73083" Q9H2F5 10976108 MGI:1278322 RGD:2324280 610999 HGNC:19876 "ENST00000319778.11|NM_001272004.3" HGNC:50717 EPC1-AS1 EPC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 Antisense RNAs 1987 2021-07-28 2021-07-28 102031319 ENSG00000229327 OTTHUMG00000017923 NR_104163 HGNC:56646 EPC1-AS2 EPC1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 Antisense RNAs 1987 2022-11-23 2022-11-23 128071537 ENSG00000233825 MGI:5579235 HGNC:24543 EPC2 enhancer of polycomb homolog 2 protein-coding gene gene with protein product Approved 2q23.1 02q23.1 DKFZP566F2124 enhancer of polycomb homolog 2 (Drosophila) Tip60/Nua4 histone acetyltransferase complex subunits 1634 2004-05-04 2016-02-01 2023-01-20 26122 ENSG00000135999 OTTHUMG00000153739 uc010zbt.3 AF286904 NM_015630 CCDS46422 Q52LR7 MGI:1278321 RGD:1307271 611000 HGNC:24543 "ENST00000258484.11|NM_015630.4" HGNC:11529 EPCAM epithelial cell adhesion molecule protein-coding gene gene with protein product Approved 2p21 02p21 "Ly74|TROP1|GA733-2|EGP34|EGP40|EGP-2|KSA|CD326|Ep-CAM|HEA125|KS1/4|MK-1|MH99|MOC31|MOC-31|323/A3|17-1A|TACST-1|CO-17A|ESA|BerEp4|Ber-Ep4" trophoblast cell surface antigen 1 "M4S1|MIC18|TACSTD1" "antigen identified by monoclonal antibody AUA1|tumor-associated calcium signal transducer 1" "CD molecules|MicroRNA protein coding host genes" "471|1691" 1995-10-02 2008-12-16 2008-12-16 2023-01-20 4072 ENSG00000119888 OTTHUMG00000128853 uc002rvx.4 M33011 NM_002354 CCDS1833 P16422 "8382772|11306819" MGI:106653 RGD:621365 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EPCAM|LRG_215|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_215.xml" 185535 226018 CD326 HGNC:11529 "ENST00000263735.9|NM_002354.3" HGNC:11529 HGNC:52639 EPCAM-DT EPCAM divergent transcript non-coding RNA RNA, long non-coding Approved 2p21 02p21 Divergent transcripts 1990 2018-09-27 2018-09-27 101927043 ENSG00000234690 OTTHUMG00000151698 NR_110208 HGNC:52639 HGNC:51792 EPCART ERG-positive prostate cancer associated androgen responsive transcript non-coding RNA RNA, long non-coding Approved 2q31.3 02q31.3 "TPCAT-2-180961|PRCAT122|PCAT-2-180961" "Tampere prostate cancer–associated transcript-2-180961|ERG-positive PC-associated androgen responsive transcript" Long non-coding RNAs with non-systematic symbols 1992 2020-06-17 2020-06-24 105373767 HY049629 XR_001739225 "25599403|26282172|3038573|325553290" -HGNC:17572 EPDR1 ependymin related 1 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "MERP-1|MERP1|UCC1|EPDR" ependymin related protein 1 (zebrafish) 2005-02-09 2013-07-31 2023-01-20 54749 ENSG00000086289 OTTHUMG00000102187 uc003tfp.5 BC018299 NM_017549 "CCDS5454|CCDS59052|CCDS59051" Q9UM22 "11749721|11248421" MGI:2145369 RGD:1359161 619734 470282 HGNC:17572 "ENST00000199448.9|NM_017549.5" -HGNC:29331 EPG5 ectopic P-granules 5 autophagy tethering factor protein-coding gene gene with protein product Approved 18q12.3-q21.1 18q12.3-q21.1 hEPG5 KIAA1632 "KIAA1632|ectopic P-granules autophagy protein 5 homolog (C. elegans)|ectopic P-granules autophagy protein 5 homolog" 2005-01-06 2011-03-02 2022-02-10 2023-01-20 57724 ENSG00000152223 OTTHUMG00000132626 uc002lbm.4 AK023817 NM_020964 "CCDS11926|CCDS92453|CCDS92454" Q9HCE0 "20550938|23222957|33674710" MGI:1918673 RGD:1306286 LRG_1234|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1234.xml 615068 323437 HGNC:29331 "ENST00000282041.11|NM_020964.3" HGNC:29331 -HGNC:17470 EPGN epithelial mitogen protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "EPG|PRO9904|ALGV3072" epigen epithelial mitogen homolog (mouse) 2006-10-17 2012-12-07 2023-01-20 255324 ENSG00000182585 OTTHUMG00000160869 uc003hic.3 NM_001013442 "CCDS59478|CCDS59475|CCDS59479|CCDS34010|CCDS59477|CCDS59476" Q6UW88 MGI:1919170 RGD:1560084 618717 ligandId:4917 HGNC:17470 "ENST00000413830.6|NM_001270989.2" +HGNC:17572 EPDR1 ependymin related 1 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "MERP-1|MERP1|UCC1|EPDR" ependymin related protein 1 (zebrafish) 2005-02-09 2013-07-31 2023-01-20 54749 ENSG00000086289 OTTHUMG00000102187 uc003tfp.5 BC018299 NM_017549 "CCDS59051|CCDS59052|CCDS5454" Q9UM22 "11749721|11248421" MGI:2145369 RGD:1359161 619734 470282 HGNC:17572 "ENST00000199448.9|NM_017549.5" +HGNC:29331 EPG5 ectopic P-granules 5 autophagy tethering factor protein-coding gene gene with protein product Approved 18q12.3-q21.1 18q12.3-q21.1 hEPG5 KIAA1632 "KIAA1632|ectopic P-granules autophagy protein 5 homolog (C. elegans)|ectopic P-granules autophagy protein 5 homolog" 2005-01-06 2011-03-02 2022-02-10 2023-01-20 57724 ENSG00000152223 OTTHUMG00000132626 uc002lbm.4 AK023817 NM_020964 "CCDS92453|CCDS11926|CCDS92454" Q9HCE0 "20550938|23222957|33674710" MGI:1918673 RGD:1306286 LRG_1234|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1234.xml 615068 323437 HGNC:29331 "ENST00000282041.11|NM_020964.3" HGNC:29331 +HGNC:17470 EPGN epithelial mitogen protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "EPG|PRO9904|ALGV3072" epigen epithelial mitogen homolog (mouse) 2006-10-17 2012-12-07 2023-01-20 255324 ENSG00000182585 OTTHUMG00000160869 uc003hic.3 NM_001013442 "CCDS34010|CCDS59477|CCDS59479|CCDS59478|CCDS59476|CCDS59475" Q6UW88 MGI:1919170 RGD:1560084 618717 ligandId:4917 HGNC:17470 "ENST00000413830.6|NM_001270989.2" HGNC:3385 EPHA1 EPH receptor A1 protein-coding gene gene with protein product Approved 7q34-q35 07q34-q35 EPH "EPHT|EPHT1" EphA1 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1989-05-16 2004-10-28 2023-01-20 2041 ENSG00000146904 OTTHUMG00000155894 uc003wcz.3 M18391 NM_005232 CCDS5884 P21709 9267020 MGI:107381 RGD:1304680 179610 objectId:1821 2.7.10.1 HGNC:3385 "ENST00000275815.4|NM_005232.5" HGNC:27799 EPHA1-AS1 EPHA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q35 07q35 EPHA1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-19 285965 ENSG00000229153 OTTHUMG00000155893 uc003wda.6 AL833583 NR_033897 EPHA1-AS1 HGNC:27799 HGNC:3386 EPHA2 EPH receptor A2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 ECK EphA2 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1991-08-07 2004-10-28 2023-01-20 1969 ENSG00000142627 OTTHUMG00000009527 uc001aya.2 BC037166 NM_004431 CCDS169 P29317 9119409 MGI:95278 RGD:1307204 176946 209474 objectId:1822 2.7.10.1 HGNC:3386 "ENST00000358432.8|NM_004431.5" HGNC:3386 HGNC:40216 EPHA2-AS1 EPHA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Antisense RNAs 1987 2021-07-29 2021-07-29 101927479 ENSG00000227959 OTTHUMG00000009528 XR_007065487 -HGNC:3387 EPHA3 EPH receptor A3 protein-coding gene gene with protein product Approved 3p11.1 03p11.1 "HEK|HEK4" "ETK|ETK1|TYRO4" EphA3 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1993-06-23 2004-10-28 2023-01-20 2042 ENSG00000044524 OTTHUMG00000159040 uc003dqy.3 M83941 NM_005233 "CCDS93324|CCDS2922|CCDS46875" P29320 "1737782|1311845" MGI:99612 RGD:68389 179611 objectId:1823 2.7.10.1 HGNC:3387 "ENST00000336596.7|NM_005233.6" +HGNC:3387 EPHA3 EPH receptor A3 protein-coding gene gene with protein product Approved 3p11.1 03p11.1 "HEK|HEK4" "ETK|ETK1|TYRO4" EphA3 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1993-06-23 2004-10-28 2023-01-20 2042 ENSG00000044524 OTTHUMG00000159040 uc003dqy.3 M83941 NM_005233 "CCDS2922|CCDS46875|CCDS93324" P29320 "1737782|1311845" MGI:99612 RGD:68389 179611 objectId:1823 2.7.10.1 HGNC:3387 "ENST00000336596.7|NM_005233.6" HGNC:3388 EPHA4 EPH receptor A4 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 Hek8 TYRO1 EphA4 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1992-10-02 2004-10-28 2023-01-20 2043 ENSG00000116106 OTTHUMG00000133142 uc002vmq.4 L36645 NM_001304536 "CCDS2447|CCDS86924" P54764 9267020 MGI:98277 RGD:1560587 602188 457688 objectId:1824 2.7.10.1 HGNC:3388 "ENST00000281821.7|NM_004438.5" HGNC:3388 -HGNC:3389 EPHA5 EPH receptor A5 protein-coding gene gene with protein product Approved 4q13.1-q13.2 04q13.1-q13.2 "Hek7|TYRO4|CEK7|EHK1" EphA5 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1997-10-10 2004-10-28 2023-01-20 2044 ENSG00000145242 OTTHUMG00000129273 uc011cah.3 L36644 NM_004439 "CCDS3514|CCDS75131|CCDS3513|CCDS75133|CCDS75132" P54756 "9267020|7528718" MGI:99654 RGD:620831 600004 objectId:1825 HGNC:3389 "ENST00000613740.5|NM_001281766.3" +HGNC:3389 EPHA5 EPH receptor A5 protein-coding gene gene with protein product Approved 4q13.1-q13.2 04q13.1-q13.2 "Hek7|TYRO4|CEK7|EHK1" EphA5 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1997-10-10 2004-10-28 2023-01-20 2044 ENSG00000145242 OTTHUMG00000129273 uc011cah.3 L36644 NM_004439 "CCDS3513|CCDS3514|CCDS75133|CCDS75132|CCDS75131" P54756 "9267020|7528718" MGI:99654 RGD:620831 600004 objectId:1825 HGNC:3389 "ENST00000613740.5|NM_001281766.3" HGNC:50602 EPHA5-AS1 EPHA5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q13.2 04q13.2 Antisense RNAs 1987 2014-05-22 2016-10-05 100144602 ENSG00000250846 OTTHUMG00000161982 NR_034138 EPHA5-AS1 HGNC:50602 -HGNC:19296 EPHA6 EPH receptor A6 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 FLJ35246 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 2004-06-25 2004-10-28 2023-01-20 285220 ENSG00000080224 OTTHUMG00000159208 uc010how.2 AK092565 NM_001080448 "CCDS54616|CCDS46876|CCDS63697" Q9UF33 12471243 MGI:108034 RGD:1304614 600066 objectId:1826 HGNC:19296 "ENST00000389672.10|NM_001080448.3" -HGNC:3390 EPHA7 EPH receptor A7 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 Hek11 EphA7 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1997-10-10 2004-10-28 2023-01-20 2045 ENSG00000135333 OTTHUMG00000015228 uc003poe.5 L36642 NM_001288629 "CCDS93972|CCDS93974|CCDS5031|CCDS93971|CCDS75494|CCDS93973" Q15375 9267020 MGI:95276 RGD:70957 602190 470284 objectId:1827 HGNC:3390 "ENST00000369303.9|NM_004440.4" -HGNC:3391 EPHA8 EPH receptor A8 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 Hek3 EEK EphA8 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1990-09-30 2004-10-28 2023-01-20 2046 ENSG00000070886 OTTHUMG00000002892 uc001bfx.2 BC038796 NM_020526 "CCDS225|CCDS30626" P29322 1648701 MGI:109378 RGD:708543 176945 objectId:1828 2.7.10.1 HGNC:3391 "ENST00000166244.8|NM_020526.5" +HGNC:19296 EPHA6 EPH receptor A6 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 FLJ35246 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 2004-06-25 2004-10-28 2023-01-20 285220 ENSG00000080224 OTTHUMG00000159208 uc010how.2 AK092565 NM_001080448 "CCDS46876|CCDS54616|CCDS63697" Q9UF33 12471243 MGI:108034 RGD:1304614 600066 objectId:1826 HGNC:19296 "ENST00000389672.10|NM_001080448.3" +HGNC:3390 EPHA7 EPH receptor A7 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 Hek11 EphA7 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1997-10-10 2004-10-28 2023-01-20 2045 ENSG00000135333 OTTHUMG00000015228 uc003poe.5 L36642 NM_001288629 "CCDS75494|CCDS5031|CCDS93974|CCDS93973|CCDS93972|CCDS93971" Q15375 9267020 MGI:95276 RGD:70957 602190 470284 objectId:1827 HGNC:3390 "ENST00000369303.9|NM_004440.4" +HGNC:3391 EPHA8 EPH receptor A8 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 Hek3 EEK EphA8 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1990-09-30 2004-10-28 2023-01-20 2046 ENSG00000070886 OTTHUMG00000002892 uc001bfx.2 BC038796 NM_020526 "CCDS30626|CCDS225" P29322 1648701 MGI:109378 RGD:708543 176945 objectId:1828 2.7.10.1 HGNC:3391 "ENST00000166244.8|NM_020526.5" HGNC:19987 EPHA10 EPH receptor A10 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ16103|FLJ33655" "Sterile alpha motif domain containing|EPH receptors" "760|1095" 2005-01-21 2023-01-20 284656 ENSG00000183317 OTTHUMG00000004325 uc009vvi.4 AK090974 NM_173641 "CCDS41305|CCDS425" Q5JZY3 15777695 MGI:3586824 RGD:1562679 611123 objectId:1829 HGNC:19987 "ENST00000373048.9|NM_001099439.2" HGNC:3392 EPHB1 EPH receptor B1 protein-coding gene gene with protein product Approved 3q22.2 03q22.2 Hek6 EPHT2 EphB1 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1995-03-23 2004-10-28 2023-01-20 2047 ENSG00000154928 OTTHUMG00000159804 uc003eqt.4 L40636 NM_004441 CCDS46921 P54762 8666391 MGI:1096337 RGD:2556 600600 objectId:1830 HGNC:3392 "ENST00000398015.8|NM_004441.5" -HGNC:3393 EPHB2 EPH receptor B2 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "Hek5|Tyro5" "DRT|ERK|EPHT3" EphB2 "Sterile alpha motif domain containing|EPH receptors|MicroRNA protein coding host genes" "760|1095|1691" 1995-05-09 2004-10-28 2023-01-20 2048 ENSG00000133216 OTTHUMG00000002881 uc001bge.4 AF025304 NM_017449 "CCDS81279|CCDS229|CCDS230" P29323 1648701 MGI:99611 RGD:1564232 LRG_780|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_780.xml 600997 121567 objectId:1831 2.7.10.1 HGNC:3393 "ENST00000374630.8|NM_017449.5" +HGNC:3393 EPHB2 EPH receptor B2 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "Hek5|Tyro5" "DRT|ERK|EPHT3" EphB2 "Sterile alpha motif domain containing|EPH receptors|MicroRNA protein coding host genes" "760|1095|1691" 1995-05-09 2004-10-28 2023-01-20 2048 ENSG00000133216 OTTHUMG00000002881 uc001bge.4 AF025304 NM_017449 "CCDS229|CCDS81279|CCDS230" P29323 1648701 MGI:99611 RGD:1564232 LRG_780|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_780.xml 600997 121567 objectId:1831 2.7.10.1 HGNC:3393 "ENST00000374630.8|NM_017449.5" HGNC:3394 EPHB3 EPH receptor B3 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "Hek2|Tyro6" ETK2 EphB3 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1993-12-07 2004-10-28 2023-01-20 2049 ENSG00000182580 OTTHUMG00000156710 uc003foz.4 X75208 NM_004443 CCDS3268 P54753 8397371 MGI:104770 RGD:1305602 601839 objectId:1832 HGNC:3394 "ENST00000330394.3|NM_004443.4" HGNC:3395 EPHB4 EPH receptor B4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Tyro11 HTK EphB4 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1994-12-15 2004-10-28 2023-01-20 2050 ENSG00000196411 OTTHUMG00000157040 uc003uwn.2 AY056047 NM_004444 CCDS5706 P54760 8188704 MGI:104757 RGD:1583193 600011 objectId:1833 HGNC:3395 "ENST00000358173.8|NM_004444.5" HGNC:3395 HGNC:3396 EPHB6 EPH receptor B6 protein-coding gene gene with protein product Approved 7q34 07q34 HEP EphB6 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1997-10-10 2004-10-28 2023-01-20 2051 ENSG00000106123 OTTHUMG00000155707 uc033ans.2 D83492 NM_001280794 "CCDS75672|CCDS5873" O15197 MGI:1096338 RGD:1306163 602757 objectId:1834 HGNC:3396 "ENST00000652003.1|NM_004445.6" @@ -8044,11 +8045,11 @@ HGNC:23760 EPHX3 epoxide hydrolase 3 protein-coding gene gene with protein produ HGNC:23758 EPHX4 epoxide hydrolase 4 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "EPHXRP|FLJ90341|EH4" ABHD7 abhydrolase domain containing 7 Abhydrolase domain containing 4 2003-12-08 2009-04-06 2009-04-06 2023-01-20 253152 ENSG00000172031 OTTHUMG00000010114 uc001don.3 AK074822 NM_173567 CCDS736 Q8IUS5 22798687 MGI:2686228 RGD:1308891 617401 S33.978 HGNC:23758 "ENST00000370383.5|NM_173567.5" HGNC:27672 EPIC1 epigenetically induced MYC interacting lncRNA 1 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Lnc-EPIC1 epigenetically-induced lncRNA1 Long non-coding RNAs with non-systematic symbols 1992 2021-11-15 2021-11-15 284930 ENSG00000224271 OTTHUMG00000150321 NR_122046 "29622465|29959919" HGNC:49679 EPIST esophagus epithelial intergenic associated transcript non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 "CTC-276P9.1|Epist" esophagus epithelial intergenic specific transcript C5orf66-AS1 C5orf66 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2014-02-04 2021-02-12 2021-02-12 2021-02-12 101927953 ENSG00000249082 OTTHUMG00000163077 NR_105049 26158411 C5orf66-AS1 HGNC:49679 -HGNC:3413 EPM2A EPM2A glucan phosphatase, laforin protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "LDE|LD" "epilepsy, progressive myoclonus type 2, Lafora disease (laforin)|epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)|EPM2A, laforin glucan phosphatase" Atypical dual specificity phosphatases 896 1998-10-01 2019-01-25 2023-01-20 7957 ENSG00000112425 OTTHUMG00000015747 uc003qkw.4 AF284580 NM_001018041 "CCDS87454|CCDS87453|CCDS5206|CCDS87452" "B3EWF7|O95278" "9222970|7485240" MGI:1341085 RGD:71047 607566 121577 HGNC:3413 "ENST00000367519.9|NM_005670.4" HGNC:3413 +HGNC:3413 EPM2A EPM2A glucan phosphatase, laforin protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "LDE|LD" "epilepsy, progressive myoclonus type 2, Lafora disease (laforin)|epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)|EPM2A, laforin glucan phosphatase" Atypical dual specificity phosphatases 896 1998-10-01 2019-01-25 2023-01-20 7957 ENSG00000112425 OTTHUMG00000015747 uc003qkw.4 AF284580 NM_001018041 "CCDS87452|CCDS87454|CCDS87453|CCDS5206" "B3EWF7|O95278" "9222970|7485240" MGI:1341085 RGD:71047 607566 121577 HGNC:3413 "ENST00000367519.9|NM_005670.4" HGNC:3413 HGNC:48990 EPM2A-DT EPM2A divergent transcript non-coding RNA RNA, long non-coding Approved 6q24.3 06q24.3 FBXO30-DT FBXO30 divergent transcript Divergent transcripts 1990 2020-01-17 2021-06-30 2021-06-30 2021-06-30 100507557 ENSG00000235652 NR_038244 32079618 HGNC:19735 EPM2AIP1 EPM2A interacting protein 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "KIAA0766|FLJ11207" laforin interacting protein 1 EPM2A (laforin) interacting protein 1 2003-03-26 2016-06-02 2023-01-20 9852 ENSG00000178567 OTTHUMG00000185486 uc003cgk.4 AB018309 NM_014805 CCDS46790 Q7L775 MGI:1925031 RGD:1310977 607911 HGNC:19735 "ENST00000322716.8|NM_014805.4" -HGNC:21604 EPN1 epsin 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 2003-06-27 2023-01-20 29924 ENSG00000063245 OTTHUMG00000180911 uc002qlw.4 AF073727 NM_013333 "CCDS46199|CCDS46200|CCDS46198" Q9Y6I3 "9723620|10557078" MGI:1333763 RGD:619772 607262 HGNC:21604 "ENST00000270460.11|NM_001130072.2" -HGNC:18639 EPN2 epsin 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "KIAA1065|EHB21" Eps15 binding protein 2002-05-14 2023-01-20 22905 ENSG00000072134 OTTHUMG00000187034 uc002gvd.5 AB028988 NM_014964 "CCDS11203|CCDS11204|CCDS42277" O95208 10567358 MGI:1333766 RGD:619773 607263 HGNC:18639 "ENST00000314728.10|NM_014964.5" +HGNC:21604 EPN1 epsin 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 2003-06-27 2023-01-20 29924 ENSG00000063245 OTTHUMG00000180911 uc002qlw.4 AF073727 NM_013333 "CCDS46200|CCDS46198|CCDS46199" Q9Y6I3 "9723620|10557078" MGI:1333763 RGD:619772 607262 HGNC:21604 "ENST00000270460.11|NM_001130072.2" +HGNC:18639 EPN2 epsin 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "KIAA1065|EHB21" Eps15 binding protein 2002-05-14 2023-01-20 22905 ENSG00000072134 OTTHUMG00000187034 uc002gvd.5 AB028988 NM_014964 "CCDS42277|CCDS11204|CCDS11203" O95208 10567358 MGI:1333766 RGD:619773 607263 HGNC:18639 "ENST00000314728.10|NM_014964.5" HGNC:40849 EPN2-AS1 EPN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 EPN2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-21 2012-08-15 2014-11-18 100874018 ENSG00000235397 OTTHUMG00000130623 uc031qzg.1 NR_048576 EPN2-AS1 HGNC:40849 HGNC:41445 EPN2-IT1 EPN2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 EPN2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874309 NR_046824 EPN2-IT1 HGNC:41445 HGNC:18235 EPN3 epsin 3 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ20778|MGC129899" 2002-05-14 2023-01-20 55040 ENSG00000049283 OTTHUMG00000162155 uc002ira.5 AF324241 NM_017957 CCDS11570 Q9H201 "10951261|11359770" MGI:1919139 RGD:1306416 607264 HGNC:18235 "ENST00000268933.8|NM_017957.3" @@ -8059,13 +8060,13 @@ HGNC:15932 EPPIN epididymal peptidase inhibitor protein-coding gene gene with pr HGNC:38825 EPPIN-WFDC6 EPPIN-WFDC6 readthrough other readthrough Approved 20q13.12 20q13.12 SPINLW1-WFDC6 SPINLW1-WFDC6 readthrough 2011-02-21 2012-09-03 2012-09-03 2023-03-15 100526773 ENSG00000249139 OTTHUMG00000161548 uc010zxc.3 NM_001198986.1 "O95925|Q9BQY6" MGI:1922776 HGNC:38825 HGNC:15577 EPPK1 epiplakin 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 EPIPL1 epidermal autoantigen 450K Plakins 939 2001-04-26 2023-01-20 83481 ENSG00000261150 OTTHUMG00000165206 uc003zaa.3 AB051895 NM_031308 CCDS75800 P58107 "11278896|15671067" MGI:2386306 RGD:1587023 LRG_880|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_880.xml 607553 HGNC:15577 "ENST00000615648.2|NM_031308.4" HGNC:3418 EPRS1 glutamyl-prolyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 1q41 01q41 "EARS|PARS|GLUPRORS" "glutamate tRNA ligase|proline tRNA ligase" "QPRS|QARS|EPRS" glutamyl-prolyl-tRNA synthetase "Aminoacyl tRNA synthetases, Class I|Aminoacyl tRNA synthetases, Class II" "131|132" 1991-02-20 2019-08-14 2019-08-14 2023-01-20 2058 ENSG00000136628 OTTHUMG00000037433 uc001hly.2 X54326 NM_004446 CCDS31027 P07814 "1988429|8188258" MGI:97838 RGD:1310952 138295 "6.1.1.15|6.1.1.17" HGNC:3418 "ENST00000366923.8|NM_004446.3" -HGNC:3420 EPS8 epidermal growth factor receptor pathway substrate 8 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 1994-12-19 2023-01-20 2059 ENSG00000151491 OTTHUMG00000168787 uc001rdb.4 U12535 NM_001413831 CCDS31753 Q12929 8084614 MGI:104684 RGD:1310590 600206 402371 HGNC:3420 "ENST00000281172.10|NM_004447.6" HGNC:3420 -HGNC:21295 EPS8L1 EPS8 like 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ20258|DRC3|MGC23164|MGC4642" 2003-06-05 2015-11-17 2023-01-20 54869 ENSG00000131037 OTTHUMG00000180513 uc002qis.5 AK057052 NM_017729 "CCDS12914|CCDS12915" Q8TE68 12620401 MGI:1914675 RGD:1311146 614987 HGNC:21295 "ENST00000201647.11|NM_133180.3" -HGNC:21296 EPS8L2 EPS8 like 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ21935|FLJ22171|MGC3088" EPS8-like 2 2003-06-05 2016-01-20 2023-01-20 64787 ENSG00000177106 OTTHUMG00000165165 uc001lqt.4 AF318331 NM_022772 CCDS31328 Q9H6S3 12620401 MGI:2138828 RGD:1310912 614988 HGNC:21296 "ENST00000318562.13|NM_022772.4" HGNC:21296 -HGNC:21297 EPS8L3 EPS8 like 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ21522|MGC16817" EPS8-like 3 2003-06-05 2016-01-20 2023-01-20 79574 ENSG00000198758 OTTHUMG00000011651 uc001dyq.3 AK025175 NM_024526 "CCDS814|CCDS815|CCDS813" Q8TE67 12620401 MGI:2139743 RGD:11498829 614989 320535 HGNC:21297 "ENST00000361965.9|NM_133181.4" HGNC:21297 -HGNC:3419 EPS15 epidermal growth factor receptor pathway substrate 15 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "AF-1P|MLLT5" EF-hand domain containing 863 1994-12-19 2023-01-20 2060 ENSG00000085832 OTTHUMG00000008192 uc001csq.2 BC054006 NM_001981 "CCDS90955|CCDS90957|CCDS557|CCDS90956" P42566 8183552 MGI:104583 RGD:1305550 EPS15 600051 HGNC:3419 "ENST00000371733.8|NM_001981.3" +HGNC:3420 EPS8 epidermal growth factor receptor pathway substrate 8 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 1994-12-19 2023-06-14 2059 ENSG00000151491 OTTHUMG00000168787 uc001rdb.4 U12535 NM_001413831 CCDS31753 Q12929 8084614 MGI:104684 RGD:1310590 600206 402371 HGNC:3420 "ENST00000281172.10|NM_004447.6" HGNC:3420 +HGNC:21295 EPS8L1 EPS8 like 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ20258|DRC3|MGC23164|MGC4642" "Epidermal growth factor receptor kinase substrate 8-like protein 1|down-regulated in esophageal cancer cDNA 3" 2003-06-05 2015-11-17 2023-06-15 54869 ENSG00000131037 OTTHUMG00000180513 uc002qis.5 AK057052 NM_017729 "CCDS12915|CCDS12914" Q8TE68 12620401 MGI:1914675 RGD:1311146 614987 HGNC:21295 "ENST00000201647.11|NM_133180.3" +HGNC:21296 EPS8L2 EPS8 like 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ21935|FLJ22171|MGC3088" Epidermal growth factor receptor kinase substrate 8-like protein 2 EPS8-like 2 2003-06-05 2016-01-20 2023-06-15 64787 ENSG00000177106 OTTHUMG00000165165 uc001lqt.4 AF318331 NM_022772 CCDS31328 Q9H6S3 "12620401|26282398" MGI:2138828 RGD:1310912 614988 HGNC:21296 "ENST00000318562.13|NM_022772.4" HGNC:21296 +HGNC:21297 EPS8L3 EPS8 like 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ21522|MGC16817" Epidermal growth factor receptor kinase substrate 8-like protein 3 EPS8-like 3 2003-06-05 2016-01-20 2023-06-15 79574 ENSG00000198758 OTTHUMG00000011651 uc001dyq.3 AK025175 NM_024526 "CCDS815|CCDS813|CCDS814" Q8TE67 "12620401|23099647" MGI:2139743 RGD:11498829 614989 320535 HGNC:21297 "ENST00000361965.9|NM_133181.4" HGNC:21297 +HGNC:3419 EPS15 epidermal growth factor receptor pathway substrate 15 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "AF-1P|MLLT5" EF-hand domain containing 863 1994-12-19 2023-01-20 2060 ENSG00000085832 OTTHUMG00000008192 uc001csq.2 BC054006 NM_001981 "CCDS90955|CCDS557|CCDS90957|CCDS90956" P42566 8183552 MGI:104583 RGD:1305550 EPS15 600051 HGNC:3419 "ENST00000371733.8|NM_001981.3" HGNC:40219 EPS15-AS1 EPS15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Antisense RNAs 1987 2019-07-25 2019-07-25 105378720 ENSG00000227070 OTTHUMG00000008232 NR_183651 HGNC:40219 -HGNC:24634 EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 eps15R epidermal growth factor receptor pathway substrate 15-like 1 EF-hand domain containing 863 2004-02-10 2016-05-12 2023-01-20 58513 ENSG00000127527 OTTHUMG00000182361 uc002ndz.3 AF110265 NM_021235 "CCDS58653|CCDS32944|CCDS59363|CCDS58654" Q9UBC2 21700002 MGI:104582 RGD:1565708 616826 HGNC:24634 "ENST00000455140.7|NM_001258374.3" HGNC:24634 +HGNC:24634 EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 eps15R epidermal growth factor receptor pathway substrate 15-like 1 EF-hand domain containing 863 2004-02-10 2016-05-12 2023-01-20 58513 ENSG00000127527 OTTHUMG00000182361 uc002ndz.3 AF110265 NM_021235 "CCDS59363|CCDS32944|CCDS58654|CCDS58653" Q9UBC2 21700002 MGI:104582 RGD:1565708 616826 HGNC:24634 "ENST00000455140.7|NM_001258374.3" HGNC:24634 HGNC:18166 EPS15P1 epidermal growth factor receptor pathway substrate 15 pseudogene 1 pseudogene pseudogene Approved 7p12.3 07p12.3 PRO1866 EPS15L2 epidermal growth factor receptor pathway substrate 15-like 2 2004-02-10 2010-12-08 2010-12-08 2014-11-19 55380 ENSG00000242948 OTTHUMG00000155470 AF119858 NG_008280 HGNC:18166 HGNC:16465 EPSTI1 epithelial stromal interaction 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "BRESI1|MGC29634" epithelial stromal interaction protein 1 epithelial stromal interaction 1 (breast) 2001-09-05 2016-09-27 2023-01-20 94240 ENSG00000133106 OTTHUMG00000016814 uc001uyx.3 AF396928 NM_001002264 "CCDS81765|CCDS9387|CCDS31964" Q96J88 11991720 MGI:1915168 RGD:1563207 607441 HGNC:16465 "ENST00000313624.12|NM_033255.5" HGNC:3423 EPX eosinophil peroxidase protein-coding gene gene with protein product Approved 17q22 17q22 "EPO|EPP|EPX-PEN" 1998-11-24 2023-01-20 8288 ENSG00000121053 OTTHUMG00000178802 uc002ivq.4 M26515 NM_000502 CCDS11602 P11678 "2550461|2541222" MGI:107569 RGD:1311882 131399 470290 1.11.1.7 HGNC:3423 "ENST00000225371.6|NM_000502.6" HGNC:3423 @@ -8073,33 +8074,33 @@ HGNC:3053 EPYC epiphycan protein-coding gene gene with protein product Approved HGNC:1359 EQTN equatorin protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "AFAF|SPACA8|equatorin" "Acr formation associated factor|Acrosome formation associated factor|sperm acrosome associated 8" C9orf11 C9orf11 2000-06-16 2012-09-20 2015-11-27 2023-01-20 54586 ENSG00000120160 OTTHUMG00000021033 uc003zql.4 AJ278482 NM_020641 "CCDS55300|CCDS35001" Q9NQ60 MGI:1915003 RGD:1563332 617653 HGNC:1359 "ENST00000380032.8|NM_020641.3" HGNC:3424 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 HERA-B "Era (E. coli G-protein homolog)-like 1|Era G-protein-like 1 (E. coli)|Era-like 12S mitochondrial rRNA chaperone 1" 1999-11-19 2016-03-31 2023-01-20 26284 ENSG00000132591 OTTHUMG00000132675 uc002hcy.2 AF082657 NM_001317985 CCDS11244 O75616 "10945472|20604745" MGI:1889295 RGD:1304714 607435 HGNC:3424 "ENST00000254928.10|NM_005702.4" HGNC:3424 HGNC:18173 ERAP1 endoplasmic reticulum aminopeptidase 1 protein-coding gene gene with protein product Approved 5q15 05q15 "ARTS-1|A-LAP|PILS-AP|KIAA0525|ERAAP1" "aminopeptidase regulator of TNFR1 shedding|adipocyte-derived leucine aminopeptidase|puromycin-insensitive leucyl-specific aminopeptidase" "Aminopeptidases|Minor histocompatibility antigens|M1 metallopeptidases" "104|870|1437" 2007-11-21 2023-01-20 51752 ENSG00000164307 OTTHUMG00000128721 uc003kml.4 AB011097 NM_016442 "CCDS47250|CCDS4085" Q9NZ08 "10220586|12189246|16286653" MGI:1933403 RGD:708542 606832 449094 M01.018 objectId:1566 HGNC:18173 "ENST00000443439.7|NM_001040458.3" -HGNC:29499 ERAP2 endoplasmic reticulum aminopeptidase 2 protein-coding gene gene with protein product Approved 5q15 05q15 "L-RAP|LRAP" leukocyte-derived arginine aminopeptidase "Aminopeptidases|M1 metallopeptidases" "104|1437" 2007-11-21 2023-01-20 64167 ENSG00000164308 OTTHUMG00000128718 uc003kmq.4 AF191545 NM_022350 "CCDS87316|CCDS87317|CCDS4086" Q6P179 "12799365|15908954" 609497 M01.024 objectId:1567 HGNC:29499 "ENST00000437043.8|NM_022350.5" +HGNC:29499 ERAP2 endoplasmic reticulum aminopeptidase 2 protein-coding gene gene with protein product Approved 5q15 05q15 "L-RAP|LRAP" leukocyte-derived arginine aminopeptidase "Aminopeptidases|M1 metallopeptidases" "104|1437" 2007-11-21 2023-01-20 64167 ENSG00000164308 OTTHUMG00000128718 uc003kmq.4 AF191545 NM_022350 "CCDS4086|CCDS87317|CCDS87316" Q6P179 "12799365|15908954" 609497 M01.024 objectId:1567 HGNC:29499 "ENST00000437043.8|NM_022350.5" HGNC:5174 ERAS ES cell expressed Ras protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "HRAS2|HRASP" v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene RAS type GTPase family 389 2001-06-22 2003-07-16 2003-07-14 2023-01-20 3266 ENSG00000187682 OTTHUMG00000059533 uc064zbl.1 X00419 NM_181532 CCDS35246 Q7Z444 12774123 MGI:2665023 RGD:1585907 300437 HGNC:5174 "ENST00000636362.1|NM_181532.3" -HGNC:3430 ERBB2 erb-b2 receptor tyrosine kinase 2 protein-coding gene gene with protein product Approved 17q12 17q12 "NEU|HER-2|CD340|HER2|c-ERB2|c-ERB-2|MLN-19|p185(erbB2)" "neuro/glioblastoma derived oncogene homolog|human epidermal growth factor receptor 2|metastatic lymph node gene 19" NGL "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2" "CD molecules|Minor histocompatibility antigens|Erb-b2 receptor tyrosine kinases|MicroRNA protein coding host genes" "471|870|1096|1691" 2001-06-22 2014-12-19 2023-01-20 2064 ENSG00000141736 OTTHUMG00000179300 uc002hso.4 X03363 NM_004448 "CCDS45667|CCDS32642|CCDS74052|CCDS77016|CCDS92296|CCDS77017" P04626 "2903500|2885835|1675005" MGI:95410 RGD:2561 LRG_724|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_724.xml ERBB2 164870 objectId:2019 CD340 HGNC:3430 "ENST00000269571.10|NM_004448.4" HGNC:3430 +HGNC:3430 ERBB2 erb-b2 receptor tyrosine kinase 2 protein-coding gene gene with protein product Approved 17q12 17q12 "NEU|HER-2|CD340|HER2|c-ERB2|c-ERB-2|MLN-19|p185(erbB2)" "neuro/glioblastoma derived oncogene homolog|human epidermal growth factor receptor 2|metastatic lymph node gene 19" NGL "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2" "CD molecules|Minor histocompatibility antigens|Erb-b2 receptor tyrosine kinases|MicroRNA protein coding host genes" "471|870|1096|1691" 2001-06-22 2014-12-19 2023-01-20 2064 ENSG00000141736 OTTHUMG00000179300 uc002hso.4 X03363 NM_004448 "CCDS92296|CCDS32642|CCDS77017|CCDS45667|CCDS77016|CCDS74052" P04626 "2903500|2885835|1675005" MGI:95410 RGD:2561 LRG_724|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_724.xml ERBB2 164870 objectId:2019 CD340 HGNC:3430 "ENST00000269571.10|NM_004448.4" HGNC:3430 HGNC:3431 ERBB3 erb-b2 receptor tyrosine kinase 3 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 HER3 human epidermal growth factor receptor 3 LCCS2 "lethal congenital contracture syndrome 2|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3" Erb-b2 receptor tyrosine kinases 1096 1990-07-15 2014-12-19 2023-01-20 2065 ENSG00000065361 OTTHUMG00000170140 uc001sjh.4 M34309 NM_001982 "CCDS44918|CCDS31833" P21860 MGI:95411 RGD:69323 LRG_996|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_996.xml ERBB3 190151 160236 objectId:1798 HGNC:3431 "ENST00000267101.8|NM_001982.4" HGNC:3431 -HGNC:3432 ERBB4 erb-b2 receptor tyrosine kinase 4 protein-coding gene gene with protein product Approved 2q34 02q34 "ALS19|HER4" human epidermal growth factor receptor 4 "v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4" "Erb-b2 receptor tyrosine kinases|MicroRNA protein coding host genes" "1096|1691" 1995-09-07 2014-12-19 2023-01-20 2066 ENSG00000178568 OTTHUMG00000133012 uc002veg.2 L07868 NM_001042599 "CCDS42811|CCDS2394" Q15303 "7700649|17018285" MGI:104771 RGD:620486 ERBB4 600543 370064 objectId:1799 HGNC:3432 "ENST00000342788.9|NM_005235.3" HGNC:3432 -HGNC:15842 ERBIN erbb2 interacting protein protein-coding gene gene with protein product Approved 5q12.3 05q12.3 LAP2 "densin-180-like protein|ERBB2-interacting protein" ERBB2IP erbb2-interacting protein PDZ domain containing 1220 2001-06-18 2016-02-17 2001-11-29 2023-01-20 55914 ENSG00000112851 OTTHUMG00000097808 uc003jui.3 NM_018695 "CCDS58954|CCDS58952|CCDS58953|CCDS34172|CCDS58951|CCDS3990" Q96RT1 "10574462|10878805" MGI:1890169 RGD:1562952 606944 470292 HGNC:15842 "ENST00000284037.10|NM_001253697.2" +HGNC:3432 ERBB4 erb-b2 receptor tyrosine kinase 4 protein-coding gene gene with protein product Approved 2q34 02q34 "ALS19|HER4" human epidermal growth factor receptor 4 "v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4" "Erb-b2 receptor tyrosine kinases|MicroRNA protein coding host genes" "1096|1691" 1995-09-07 2014-12-19 2023-01-20 2066 ENSG00000178568 OTTHUMG00000133012 uc002veg.2 L07868 NM_001042599 "CCDS2394|CCDS42811" Q15303 "7700649|17018285" MGI:104771 RGD:620486 ERBB4 600543 370064 objectId:1799 HGNC:3432 "ENST00000342788.9|NM_005235.3" HGNC:3432 +HGNC:15842 ERBIN erbb2 interacting protein protein-coding gene gene with protein product Approved 5q12.3 05q12.3 LAP2 "densin-180-like protein|ERBB2-interacting protein" ERBB2IP erbb2-interacting protein PDZ domain containing 1220 2001-06-18 2016-02-17 2001-11-29 2023-01-20 55914 ENSG00000112851 OTTHUMG00000097808 uc003jui.3 NM_018695 "CCDS3990|CCDS58951|CCDS58954|CCDS34172|CCDS58952|CCDS58953" Q96RT1 "10574462|10878805" MGI:1890169 RGD:1562952 606944 470292 HGNC:15842 "ENST00000284037.10|NM_001253697.2" HGNC:55270 ERBIN-DT ERBIN divergent transcript non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 Divergent transcripts 1990 2020-10-01 2020-10-01 118732300 ENSG00000269961 HGNC:17072 ERC1 ELKS/RAB6-interacting/CAST family member 1 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "ELKS|KIAA1081|CAST2|MGC12974" RAB6IP2 RAB6 interacting protein 2 2004-11-26 2006-08-14 2006-08-14 2023-01-20 23085 ENSG00000082805 OTTHUMG00000130138 uc001qjb.3 AB015617 NM_015064 "CCDS8508|CCDS53732|CCDS76504" Q8IUD2 "10697956|11929610" MGI:2151013 RGD:628733 ERC1 607127 121583 HGNC:17072 "ENST00000360905.9|NM_178040.4" HGNC:31922 ERC2 ELKS/RAB6-interacting/CAST family member 2 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "CAST|CAST1|KIAA0378|SPBC110|Spc110|ELKSL" MicroRNA protein coding host genes 1691 2006-08-14 2023-01-20 26059 ENSG00000187672 OTTHUMG00000158390 uc062kue.1 AB002376 NM_015576 CCDS46851 O15083 MGI:1098749 RGD:708372 617250 HGNC:31922 "ENST00000288221.11|NM_015576.3" HGNC:1229 ERC2-IT1 ERC2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 Po42 "C1orf1|C3orf51" "chromosome 1 open reading frame 1|chromosome 3 open reading frame 51|ERC2 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 1998-08-06 2012-05-30 2015-02-25 2020-01-06 711 ENSG00000281708 OTTHUMG00000189578 uc003dhs.5 U88965 NR_024615 O76042 9653645 ERC2-IT1 HGNC:1229 -HGNC:3433 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 RAD10 "excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)|excision repair cross-complementation group 1" ERCC excision repair associated 1268 2001-06-22 2016-05-23 2023-01-20 2067 ENSG00000012061 OTTHUMG00000182121 uc002pbs.3 NM_001983 "CCDS54279|CCDS12663|CCDS12662" P07992 "6462228|26939044" MGI:95412 RGD:1306992 LRG_305|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_305.xml 126380 139163 HGNC:3433 "ENST00000300853.8|NM_001983.4" HGNC:3433 +HGNC:3433 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 RAD10 "excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)|excision repair cross-complementation group 1" ERCC excision repair associated 1268 2001-06-22 2016-05-23 2023-01-20 2067 ENSG00000012061 OTTHUMG00000182121 uc002pbs.3 NM_001983 "CCDS12662|CCDS12663|CCDS54279" P07992 "6462228|26939044" MGI:95412 RGD:1306992 LRG_305|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_305.xml 126380 139163 HGNC:3433 "ENST00000300853.8|NM_001983.4" HGNC:3433 HGNC:3434 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "MAG|EM9|MGC102762|MGC126218|MGC126219" "excision repair cross-complementing rodent repair deficiency, complementation group 2 protein|TFIIH basal transcription factor complex helicase XPB subunit" XPD "xeroderma pigmentosum complementary group D|excision repair cross-complementing rodent repair deficiency, complementation group 2|excision repair cross-complementation group 2" "Xeroderma pigmentosum complementation groups|DNA helicases|ERCC excision repair associated|General transcription factor IIH complex subunits" "1125|1167|1268|1745" 2001-06-22 2016-05-23 2023-01-20 2068 ENSG00000104884 OTTHUMG00000048190 uc002pbj.3 NM_000400 "CCDS46112|CCDS33049" P18074 "8413672|2184031" MGI:95413 RGD:1309109 "The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ERCC2|LRG_461|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_461.xml" ERCC2 126340 121590 3.6.4.12 HGNC:3434 "ENST00000391945.10|NM_000400.4" HGNC:3434 HGNC:3435 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "XPB|BTF2|RAD25|Ssl2" xeroderma pigmentosum group B complementing "excision repair cross-complementing rodent repair deficiency, complementation group 3|excision repair cross-complementation group 3" "Xeroderma pigmentosum complementation groups|DNA helicases|ERCC excision repair associated|General transcription factor IIH complex subunits" "1125|1167|1268|1745" 2001-06-22 2016-05-23 2023-01-20 2071 ENSG00000163161 OTTHUMG00000131530 uc002toh.1 M31899 NM_000122 CCDS2144 P19447 8202161 MGI:95414 RGD:1307139 LRG_462|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_462.xml ERCC3 133510 132264 3.6.4.12 HGNC:3435 "ENST00000285398.7|NM_000122.2" HGNC:3435 HGNC:3436 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "RAD1|FANCQ" xeroderma pigmentosum, complementation group F XPF "excision repair cross-complementing rodent repair deficiency, complementation group 4|excision repair cross-complementation group 4" "FA complementation groups|Xeroderma pigmentosum complementation groups|ERCC excision repair associated" "548|1125|1268" 2001-06-22 2016-05-23 2023-01-20 2072 ENSG00000175595 OTTHUMG00000048194 uc002dce.3 L76568 NM_005236 CCDS32390 Q92889 "9579555|8887684" MGI:1354163 RGD:1560340 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_463|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_463.xml" ERCC4 133520 121595 HGNC:3436 "ENST00000311895.8|NM_005236.3" HGNC:3436 HGNC:3437 ERCC5 ERCC excision repair 5, endonuclease protein-coding gene gene with protein product Approved 13q33.1 13q33.1 Cockayne syndrome "ERCM2|XPGC" "xeroderma pigmentosum, complementation group G|excision repair cross-complementing rodent repair deficiency, complementation group 5|excision repair cross-complementation group 5" "Xeroderma pigmentosum complementation groups|ERCC excision repair associated" "1125|1268" 2001-06-22 2016-05-23 2023-01-20 2073 ENSG00000134899 OTTHUMG00000017310 uc001vpw.4 X71342 NM_000123 CCDS32004 P28715 8088806 MGI:103582 RGD:1586176 LRG_464|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_464.xml ERCC5 133530 132271 HGNC:3437 "ENST00000652225.2|NM_000123.4" HGNC:3437 HGNC:3438 ERCC6 ERCC excision repair 6, chromatin remodeling factor protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "CSB|RAD26|ARMD5" Cockayne syndrome B protein CKN2 "excision repair cross-complementing rodent repair deficiency, complementation group 6|excision repair cross-complementation group 6" "ERCC excision repair associated|B-WICH chromatin-remodelling complex subunits" "1268|1787" 1989-06-30 2016-05-23 2023-01-20 2074 ENSG00000225830 OTTHUMG00000018195 uc001jhs.6 L04791 NM_000124 "CCDS7229|CCDS60529" "P0DP91|Q03468" "1339317|19179336" MGI:1100494 RGD:1311509 LRG_465|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_465.xml 609413 121599 3.6.4.- HGNC:3438 "ENST00000355832.10|NM_000124.4" HGNC:3438 HGNC:20794 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "FLJ20105|PICH|RAD26L" PLK1-interacting checkpoint helicase "excision repair cross-complementing rodent repair deficiency, complementation group 6-like|excision repair cross-complementation group 6 like" 2007-08-02 2016-05-23 2023-03-15 54821 ENSG00000186871 OTTHUMG00000021810 uc004eaq.2 AK000112 NM_017669 CCDS35329 Q2NKX8 "17218258|26643143" MGI:2654144 RGD:1565734 300687 HGNC:20794 "ENST00000334463.4|NM_017669.4" -HGNC:26922 ERCC6L2 ERCC excision repair 6 like 2 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "FLJ37706|RAD26L|HEBO" C9orf102 "chromosome 9 open reading frame 102|excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2|excision repair cross-complementation group 6 like 2" 2004-03-11 2012-03-30 2016-05-23 2023-01-20 375748 ENSG00000182150 OTTHUMG00000020289 uc004avt.5 BC022957 NM_001010895 "CCDS35072|CCDS94442|CCDS94443" Q5T890 "24507776|27185855" MGI:1923501 RGD:1561537 615667 403281 HGNC:26922 "ENST00000653738.2|NM_020207.7" HGNC:26922 +HGNC:26922 ERCC6L2 ERCC excision repair 6 like 2 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "FLJ37706|RAD26L|HEBO" C9orf102 "chromosome 9 open reading frame 102|excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2|excision repair cross-complementation group 6 like 2" 2004-03-11 2012-03-30 2016-05-23 2023-01-20 375748 ENSG00000182150 OTTHUMG00000020289 uc004avt.5 BC022957 NM_001010895 "CCDS94442|CCDS94443|CCDS35072" Q5T890 "24507776|27185855" MGI:1923501 RGD:1561537 615667 403281 HGNC:26922 "ENST00000653738.2|NM_020207.7" HGNC:26922 HGNC:27858 ERCC6L2-AS1 ERCC6L2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q22.32 09q22.32 "C9orf130|LINC00476" "chromosome 9 open reading frame 130|long intergenic non-protein coding RNA 476" Antisense RNAs 1987 2004-04-16 2021-11-08 2021-11-08 2021-11-08 100128782 ENSG00000175611 OTTHUMG00000020286 uc064unj.1 AK092137 NR_023389 Q8WZB0 33370431 LINC00476 HGNC:27858 HGNC:3439 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit protein-coding gene gene with protein product Approved 5q12.1 05q12.1 CSA CKN1 "Cockayne syndrome 1 (classical)|excision repair cross-complementing rodent repair deficiency, complementation group 8|excision repair cross-complementation group 8" "WD repeat domain containing|ERCC excision repair associated" "362|1268" 1995-02-07 2016-05-23 2023-03-15 1161 ENSG00000049167 OTTHUMG00000097741 uc003jsm.4 U28413 NM_000082 "CCDS93715|CCDS3978" Q13216 8596535 MGI:1919241 RGD:1311570 LRG_466|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_466.xml 609412 121604 HGNC:3439 "ENST00000676185.1|NM_000082.4" HGNC:3439 HGNC:40220 ERCC8-AS1 ERCC8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q12.1 05q12.1 Antisense RNAs 1987 2019-07-25 2019-07-25 105378991 ENSG00000233847 OTTHUMG00000153833 NR_183288 HGNC:40220 HGNC:3442 ERDA1 expanded repeat domain, CAG/CTG 1 other region Approved 17q21.3 17q21.3 1999-01-21 2008-08-27 9030 AB007820 "9398837|9774773" 603279 HGNC:3443 EREG epiregulin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 ER 1998-02-11 2023-01-20 2069 ENSG00000124882 OTTHUMG00000130005 uc003hie.2 D30783 NM_001432 CCDS3564 O14944 9337852 MGI:107508 RGD:620299 602061 ligandId:4918 HGNC:3443 "ENST00000244869.3|NM_001432.3" -HGNC:3444 ERF ETS2 repressor factor protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PE-2|PE2" Ets2 repressor factor ETS transcription factor family 534 1998-07-17 2016-02-24 2023-01-20 2077 ENSG00000105722 OTTHUMG00000182788 uc002ote.5 U58535 NM_006494 "CCDS77308|CCDS12600" P50548 "7588608|9192842" MGI:109637 RGD:1311991 611888 332108 HGNC:3444 "ENST00000222329.9|NM_006494.4" HGNC:3444 +HGNC:3444 ERF ETS2 repressor factor protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PE-2|PE2" Ets2 repressor factor ETS transcription factor family 534 1998-07-17 2016-02-24 2023-01-20 2077 ENSG00000105722 OTTHUMG00000182788 uc002ote.5 U58535 NM_006494 "CCDS12600|CCDS77308" P50548 "7588608|9192842" MGI:109637 RGD:1311991 611888 332108 HGNC:3444 "ENST00000222329.9|NM_006494.4" HGNC:3444 HGNC:26727 ERFE erythroferrone protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ37034|CTRP15|C1QTNF15" myonectin FAM132B family with sequence similarity 132, member B C1q and TNF related 1372 2007-03-27 2016-05-27 2016-05-27 2023-01-20 151176 ENSG00000178752 OTTHUMG00000152901 uc061udn.1 AK094353 NM_001291832 CCDS77548 Q4G0M1 "22351773|26322167" MGI:3606476 RGD:1584688 615099 470294 HGNC:26727 "ENST00000546354.6|NM_001291832.2" HGNC:53894 ERFL ETS repressor factor like protein-coding gene gene with protein product Approved 19q13.2 19q13.2 erfl1 2019-06-18 2023-01-20 390937 ENSG00000268041 OTTHUMG00000182736 NM_001365103 CCDS92627 A0A1W2PQ73 MGI:3642958 RGD:1563034 HGNC:53894 "ENST00000597630.3|NM_001365103.2" -HGNC:3446 ERG ETS transcription factor ERG protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "erg-3|p55" "transcriptional regulator ERG (transforming protein ERG)|v-ets erythroblastosis virus E26 oncogene like|TMPRSS2-ERG prostate cancer specific|ETS-related gene" "v-ets avian erythroblastosis virus E26 oncogene related|v-ets avian erythroblastosis virus E26 oncogene homolog" ETS transcription factor family 534 2001-06-22 2018-08-15 2023-01-20 2078 ENSG00000157554 OTTHUMG00000090767 uc002yxa.4 NM_182918 "CCDS13658|CCDS58789|CCDS46648|CCDS13657|CCDS46649|CCDS82674" P11308 3274086 MGI:95415 RGD:621108 ERG 165080 121608 HGNC:3446 "ENST00000288319.12|NM_182918.4" +HGNC:3446 ERG ETS transcription factor ERG protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "erg-3|p55" "transcriptional regulator ERG (transforming protein ERG)|v-ets erythroblastosis virus E26 oncogene like|TMPRSS2-ERG prostate cancer specific|ETS-related gene" "v-ets avian erythroblastosis virus E26 oncogene related|v-ets avian erythroblastosis virus E26 oncogene homolog" ETS transcription factor family 534 2001-06-22 2018-08-15 2023-01-20 2078 ENSG00000157554 OTTHUMG00000090767 uc002yxa.4 NM_182918 "CCDS13657|CCDS46648|CCDS58789|CCDS82674|CCDS13658|CCDS46649" P11308 3274086 MGI:95415 RGD:621108 ERG 165080 121608 HGNC:3446 "ENST00000288319.12|NM_182918.4" HGNC:1187 ERG28 ergosterol biosynthesis 28 homolog protein-coding gene gene with protein product Approved 14q24.3 14q24.3 NET51 C14orf1 chromosome 14 open reading frame 1 1999-03-19 2017-05-26 2017-05-26 2023-01-20 11161 ENSG00000133935 OTTHUMG00000171488 uc001xrt.4 AF134159 NM_007176 CCDS9845 Q9UKR5 "10449901|12958361|11160377" MGI:1915571 RGD:1310769 604576 HGNC:1187 "ENST00000256319.7|NM_007176.4" HGNC:29205 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "ERGIC32|ERGIC-32|KIAA1181|NET24" endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 2006-01-19 2015-05-27 2023-03-15 57222 ENSG00000113719 OTTHUMG00000130520 uc003mbw.5 AF267855 NM_020462 CCDS34292 Q969X5 "10574461|15308636" MGI:1914708 RGD:1585015 617946 HGNC:29205 "ENST00000393784.8|NM_001031711.3" HGNC:29205 HGNC:30208 ERGIC2 ERGIC and golgi 2 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "PTX1|Erv41" 2006-01-19 2023-01-20 51290 ENSG00000087502 OTTHUMG00000169322 uc001riv.4 AF216751 NM_016570 CCDS41765 Q96RQ1 "11445006|12932305" MGI:1914706 RGD:1310606 612236 HGNC:30208 "ENST00000360150.9|NM_016570.3" @@ -8113,30 +8114,30 @@ HGNC:17276 ERI3 ERI1 exoribonuclease family member 3 protein-coding gene gene wi HGNC:41431 ERI3-IT1 ERI3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p34.1 01p34.1 ERI3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874278 ENSG00000233602 OTTHUMG00000037293 uc031tze.2 NR_046817 ERI3-IT1 HGNC:41431 HGNC:49404 ERICD E2F1-regulated inhibitor of cell death non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 "TCONS_00014875|ERIC" LINC01130 "long intergenic non-protein coding RNA 1130|E2F1-regulated inhibitor of cell death (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-10-25 2013-11-18 2018-05-16 2018-05-16 104355217 ENSG00000280303 OTTHUMG00000164249 BX099671 NR_170171 24168400 eric HGNC:27234 ERICH1 glutamate rich 1 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 glutamate-rich 1 2005-09-01 2015-11-05 2023-01-20 157697 ENSG00000104714 OTTHUMG00000129163 uc064jwr.1 NM_207332 CCDS5955 Q86X53 MGI:3588201 RGD:1559872 HGNC:27234 "ENST00000262109.8|NM_207332.3" -HGNC:44395 ERICH2 glutamate rich 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 glutamate-rich 2 2012-09-25 2015-11-05 2023-01-20 285141 ENSG00000204334 OTTHUMG00000154074 uc002ugg.4 "BC127676|BC150546" NM_001289947 "CCDS92894|CCDS77486|CCDS92895" A1L162 MGI:1913998 RGD:1563852 HGNC:44395 "ENST00000697325.1|NM_001290030.2" +HGNC:44395 ERICH2 glutamate rich 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 glutamate-rich 2 2012-09-25 2015-11-05 2023-01-20 285141 ENSG00000204334 OTTHUMG00000154074 uc002ugg.4 "BC127676|BC150546" NM_001289947 "CCDS92894|CCDS92895|CCDS77486" A1L162 MGI:1913998 RGD:1563852 HGNC:44395 "ENST00000697325.1|NM_001290030.2" HGNC:55686 ERICH2-DT ERICH2 divergent transcript non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Divergent transcripts 1990 2021-07-05 2023-02-13 101926913 ENSG00000234350 NR_110185 33976720 HGNC:25346 ERICH3 glutamate rich 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "DKFZp547I048|RP11-653A5.1" C1orf173 "chromosome 1 open reading frame 173|glutamate-rich 3" 2005-07-21 2014-02-19 2015-11-05 2023-01-20 127254 ENSG00000178965 OTTHUMG00000009622 AL834414 NM_001002912 CCDS30755 Q5RHP9 12477932 MGI:1919095 RGD:1593279 HGNC:25346 "ENST00000326665.10|NM_001002912.5" HGNC:41093 ERICH3-AS1 ERICH3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Antisense RNAs 1987 2014-02-19 2014-11-19 101927320 ENSG00000234497 OTTHUMG00000037896 BX092187 NR_121670 ERICH3-AS1 HGNC:41093 HGNC:34497 ERICH4 glutamate rich 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 LOC100170765 C19orf69 "chromosome 19 open reading frame 69|glutamate-rich 4" 2008-08-06 2014-02-19 2015-11-05 2023-01-20 100170765 ENSG00000204978 OTTHUMG00000187130 NM_001130514 CCDS46085 A6NGS2 MGI:3646269 RGD:1583255 HGNC:34497 "ENST00000378187.3|NM_001130514.3" -HGNC:26823 ERICH5 glutamate rich 5 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 FLJ39553 C8orf47 "chromosome 8 open reading frame 47|glutamate-rich 5" 2005-08-04 2014-02-19 2015-11-05 2023-01-20 203111 ENSG00000177459 OTTHUMG00000164819 AK096872 NM_173549 "CCDS55266|CCDS34929" Q6P6B1 12477932 MGI:2447772 RGD:1590540 HGNC:26823 "ENST00000318528.8|NM_173549.3" -HGNC:28602 ERICH6 glutamate rich 6 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "MGC39662|ERICH6A" glutamate-rich 6A "C3orf44|FAM194A" "chromosome 3 open reading frame 44|family with sequence similarity 194, member A|glutamate-rich 6" 2006-01-13 2014-03-19 2015-11-05 2023-01-20 131831 ENSG00000163645 OTTHUMG00000133569 AK093375 NM_152394 "CCDS77840|CCDS3151" Q7L0X2 MGI:3588212 RGD:1559451 HGNC:28602 "ENST00000295910.11|NM_152394.5" +HGNC:26823 ERICH5 glutamate rich 5 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 FLJ39553 C8orf47 "chromosome 8 open reading frame 47|glutamate-rich 5" 2005-08-04 2014-02-19 2015-11-05 2023-01-20 203111 ENSG00000177459 OTTHUMG00000164819 AK096872 NM_173549 "CCDS34929|CCDS55266" Q6P6B1 12477932 MGI:2447772 RGD:1590540 HGNC:26823 "ENST00000318528.8|NM_173549.3" +HGNC:28602 ERICH6 glutamate rich 6 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "MGC39662|ERICH6A" glutamate-rich 6A "C3orf44|FAM194A" "chromosome 3 open reading frame 44|family with sequence similarity 194, member A|glutamate-rich 6" 2006-01-13 2014-03-19 2015-11-05 2023-01-20 131831 ENSG00000163645 OTTHUMG00000133569 AK093375 NM_152394 "CCDS3151|CCDS77840" Q7L0X2 MGI:3588212 RGD:1559451 HGNC:28602 "ENST00000295910.11|NM_152394.5" HGNC:41205 ERICH6-AS1 ERICH6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Antisense RNAs 1987 2014-03-19 2014-11-19 101928085 ENSG00000240137 OTTHUMG00000159845 "AI146376|AA262424" NR_121674 ERICH6-AS1 HGNC:41205 HGNC:26523 ERICH6B glutamate rich 6B protein-coding gene gene with protein product Approved 13q14.13 13q14.13 FLJ32682 FAM194B "family with sequence similarity 194, member B|glutamate-rich 6B" 2009-09-08 2014-03-19 2015-11-05 2023-01-20 220081 ENSG00000165837 OTTHUMG00000016856 NM_182542 CCDS45045 Q5W0A0 MGI:1922522 RGD:6491099 HGNC:26523 "ENST00000298738.3|NM_182542.3" -HGNC:25222 ERLEC1 endoplasmic reticulum lectin 1 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 "CL25084|XTP3TPB|XTP3-B|ERLECTIN" erlectin 1 C2orf30 chromosome 2 open reading frame 30 MRH domain containing 1233 2004-06-01 2009-08-26 2009-08-26 2023-01-20 27248 ENSG00000068912 OTTHUMG00000129281 uc002rxl.4 AF131849 NM_015701 "CCDS1848|CCDS46284|CCDS46283" Q96DZ1 "9110174|8619474|16531414|18264092" MGI:1914003 RGD:1306508 611229 HGNC:25222 "ENST00000185150.9|NM_015701.5" +HGNC:25222 ERLEC1 endoplasmic reticulum lectin 1 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 "CL25084|XTP3TPB|XTP3-B|ERLECTIN" erlectin 1 C2orf30 chromosome 2 open reading frame 30 MRH domain containing 1233 2004-06-01 2009-08-26 2009-08-26 2023-01-20 27248 ENSG00000068912 OTTHUMG00000129281 uc002rxl.4 AF131849 NM_015701 "CCDS46283|CCDS1848|CCDS46284" Q96DZ1 "9110174|8619474|16531414|18264092" MGI:1914003 RGD:1306508 611229 HGNC:25222 "ENST00000185150.9|NM_015701.5" HGNC:38012 ERLEC1P1 endoplasmic reticulum lectin 1 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 2010-03-19 2014-11-18 100288870 ENSG00000240755 OTTHUMG00000155493 NG_022985 PGOHUM00000239144 HGNC:38012 HGNC:16947 ERLIN1 ER lipid raft associated 1 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "KE04|Erlin-1|SPG62" Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9 "C10orf69|SPFH1" "chromosome 10 open reading frame 69|SPFH domain family, member 1" Small nucleolar RNA protein coding host genes 1835 2004-02-05 2007-01-26 2007-01-26 2023-01-20 10613 ENSG00000107566 OTTHUMG00000018900 uc001kqn.5 AF064093 NM_006459 CCDS7487 O75477 "11118313|16835267|24482476" MGI:2387613 RGD:1307058 611604 403322 HGNC:16947 "ENST00000421367.7|NM_006459.4" HGNC:16947 -HGNC:1356 ERLIN2 ER lipid raft associated 2 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "NET32|Erlin-2" "C8orf2|SPFH2|SPG18" "chromosome 8 open reading frame 2|SPFH domain family, member 2|spastic paraplegia 18 (autosomal dominant)" 1998-12-03 2007-01-26 2007-01-26 2023-01-20 11160 ENSG00000147475 OTTHUMG00000164005 uc003xke.5 AY358108 NM_007175 "CCDS6095|CCDS34879" O94905 "10449903|15897872|16835267|21796390" MGI:2387215 RGD:1309010 LRG_1040|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1040.xml 611605 280390 HGNC:1356 "ENST00000519638.3|NM_007175.8" HGNC:1356 +HGNC:1356 ERLIN2 ER lipid raft associated 2 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "NET32|Erlin-2" "C8orf2|SPFH2|SPG18" "chromosome 8 open reading frame 2|SPFH domain family, member 2|spastic paraplegia 18 (autosomal dominant)" 1998-12-03 2007-01-26 2007-01-26 2023-01-20 11160 ENSG00000147475 OTTHUMG00000164005 uc003xke.5 AY358108 NM_007175 "CCDS34879|CCDS6095" O94905 "10449903|15897872|16835267|21796390" MGI:2387215 RGD:1309010 LRG_1040|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1040.xml 611605 280390 HGNC:1356 "ENST00000519638.3|NM_007175.8" HGNC:1356 HGNC:41109 ERLNC1 estrogen receptor responsive lncRNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 "TC0101441|ElncRNA1" oestrogen-induced long non-coding RNA-1 Long non-coding RNAs with non-systematic symbols 1992 2017-08-30 2017-08-30 101929441 ENSG00000230550 OTTHUMG00000036062 NR_123739 "24380700|28714515" HGNC:41109 HGNC:15743 ERMAP erythroblast membrane associated protein (Scianna blood group) protein-coding gene gene with protein product Approved 1p34.2 01p34.2 BTN5 "RD|SC" "Radin blood group|Scianna blood group|erythroblast membrane-associated protein|erythroblast membrane-associated protein (RD and SC blood groups)|erythroblast membrane-associated protein (Scianna blood group)" "Blood group antigens|Butyrophilins|V-set domain containing" "454|458|590" 2001-09-06 2016-01-20 2023-01-20 114625 ENSG00000164010 OTTHUMG00000007619 uc001cic.2 AF311284 NM_018538 CCDS475 Q96PL5 11549310 MGI:1349816 RGD:1309996 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_806|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_806.xml" 609017 HGNC:15743 "ENST00000372517.8|NM_001017922.2" -HGNC:21056 ERMARD ER membrane associated RNA degradation protein-coding gene gene with protein product Approved 6q27 06q27 "FLJ11152|dJ266L20.3" C6orf70 chromosome 6 open reading frame 70 2003-11-26 2013-08-28 2016-06-01 2023-01-20 55780 ENSG00000130023 OTTHUMG00000016067 AK002014 NM_018341 "CCDS64574|CCDS34576|CCDS64572|CCDS64573|CCDS94040" Q5T6L9 23768067 MGI:1917317 RGD:1309374 615532 370330 HGNC:21056 "ENST00000366773.8|NM_018341.3" HGNC:21056 -HGNC:29208 ERMN ermin protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "JN|ERMIN" juxtanodin KIAA1189 "KIAA1189|ermin, ERM-like protein" 2004-03-29 2008-01-15 2015-11-05 2023-01-20 57471 ENSG00000136541 OTTHUMG00000153843 uc002tzh.4 AB033015 NM_001009959 "CCDS77475|CCDS42764|CCDS46431" Q8TAM6 "16051705|16421295" MGI:1925017 RGD:1308367 610072 HGNC:29208 "ENST00000410096.6|NM_020711.3" +HGNC:21056 ERMARD ER membrane associated RNA degradation protein-coding gene gene with protein product Approved 6q27 06q27 "FLJ11152|dJ266L20.3" C6orf70 chromosome 6 open reading frame 70 2003-11-26 2013-08-28 2016-06-01 2023-01-20 55780 ENSG00000130023 OTTHUMG00000016067 AK002014 NM_018341 "CCDS64572|CCDS64573|CCDS34576|CCDS94040|CCDS64574" Q5T6L9 23768067 MGI:1917317 RGD:1309374 615532 370330 HGNC:21056 "ENST00000366773.8|NM_018341.3" HGNC:21056 +HGNC:29208 ERMN ermin protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "JN|ERMIN" juxtanodin KIAA1189 "KIAA1189|ermin, ERM-like protein" 2004-03-29 2008-01-15 2015-11-05 2023-01-20 57471 ENSG00000136541 OTTHUMG00000153843 uc002tzh.4 AB033015 NM_001009959 "CCDS46431|CCDS42764|CCDS77475" Q8TAM6 "16051705|16421295" MGI:1925017 RGD:1308367 610072 HGNC:29208 "ENST00000410096.6|NM_020711.3" HGNC:23703 ERMP1 endoplasmic reticulum metallopeptidase 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "FLJ23309|FXNA" Felix-ina KIAA1815 KIAA1815 M28 metallopeptidases 1444 2003-12-02 2007-07-05 2007-07-05 2023-01-20 79956 ENSG00000099219 OTTHUMG00000019508 uc003zjm.2 AB058718 NM_024896 "CCDS94378|CCDS34983" Q7Z2K6 11347906 MGI:106250 RGD:727831 611156 M28.018 HGNC:23703 "ENST00000339450.10|NM_024896.3" HGNC:3449 ERN1 endoplasmic reticulum to nucleus signaling 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "IRE1|IRE1P" "inositol-requiring enzyme 1|Serine/threonine-protein kinase/endoribonuclease IRE1" ER to nucleus signalling 1 Endoribonucleases 1687 1998-08-06 2007-08-14 2023-01-20 2081 ENSG00000178607 OTTHUMG00000178879 uc002jdz.3 AF059198 NM_001433 CCDS45762 O75460 9637683 MGI:1930134 RGD:1559716 604033 objectId:2020 "3.1.26.-|2.7.11.1" HGNC:3449 "ENST00000433197.4|NM_001433.5" HGNC:16942 ERN2 endoplasmic reticulum to nucleus signaling 2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 IRE1b ER to nucleus signalling 2 2003-01-27 2007-08-14 2023-01-20 10595 ENSG00000134398 OTTHUMG00000177020 uc284nvp.1 AA527544 NM_001308220 "CCDS76845|CCDS32407" Q76MJ5 "9755171|11175748" MGI:1349436 RGD:1308743 604034 objectId:2021 HGNC:16942 "ENST00000256797.9|NM_033266.4" HGNC:13280 ERO1A endoplasmic reticulum oxidoreductase 1 alpha protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "ERO1-alpha|Ero1alpha" ERO1L "ERO1 (S. cerevisiae)-like|ERO1-like (S. cerevisiae)" 2001-12-12 2015-06-19 2016-07-01 2023-01-20 30001 ENSG00000197930 OTTHUMG00000140301 AF081886 NM_014584 CCDS9709 Q96HE7 10671517 MGI:1354385 RGD:621713 615435 HGNC:13280 "ENST00000395686.8|NM_014584.3" HGNC:14355 ERO1B endoplasmic reticulum oxidoreductase 1 beta protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "ERO1-L(beta)|Ero1beta" ERO1LB ERO1-like beta (S. cerevisiae) 2003-02-25 2015-06-19 2016-07-01 2023-01-20 56605 ENSG00000086619 OTTHUMG00000039955 AF252538 NM_019891 CCDS31064 Q86YB8 "10818100|21091435" MGI:1914725 RGD:1563548 615437 HGNC:14355 "ENST00000354619.10|NM_019891.4" HGNC:26495 ERP27 endoplasmic reticulum protein 27 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "FLJ32115|PDIA8" protein disulfide isomerase family A, member 8 C12orf46 "chromosome 12 open reading frame 46|endoplasmic reticulum protein 27 kDa" Protein disulfide isomerases 692 2006-01-23 2007-03-26 2009-02-23 2023-01-20 121506 ENSG00000139055 OTTHUMG00000168741 uc001rco.4 AK056677 NM_152321 "CCDS73450|CCDS8670" Q96DN0 "12975309|16940051" MGI:1916437 RGD:1565381 610642 HGNC:26495 "ENST00000266397.7|NM_152321.4" -HGNC:13799 ERP29 endoplasmic reticulum protein 29 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "ERp28|ERp31|PDI-DB|PDIA9" protein disulfide isomerase family A, member 9 C12orf8 chromosome 12 open reading frame 8 Protein disulfide isomerases 692 2001-04-27 2005-10-05 2005-10-05 2023-01-20 10961 ENSG00000089248 OTTHUMG00000169637 uc001ttk.2 X94910 NM_001034025 "CCDS44977|CCDS9158" P30040 "9738895|9037184" MGI:1914647 RGD:619781 602287 HGNC:13799 "ENST00000261735.4|NM_006817.4" +HGNC:13799 ERP29 endoplasmic reticulum protein 29 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "ERp28|ERp31|PDI-DB|PDIA9" protein disulfide isomerase family A, member 9 C12orf8 chromosome 12 open reading frame 8 Protein disulfide isomerases 692 2001-04-27 2005-10-05 2005-10-05 2023-01-20 10961 ENSG00000089248 OTTHUMG00000169637 uc001ttk.2 X94910 NM_001034025 "CCDS9158|CCDS44977" P30040 "9738895|9037184" MGI:1914647 RGD:619781 602287 HGNC:13799 "ENST00000261735.4|NM_006817.4" HGNC:24625 ERP29P1 endoplasmic reticulum lumenal protein 29 pseudogene 1 pseudogene pseudogene Approved 20q13.2 20q13.2 ERP28P 2010-09-29 2020-04-20 100420612 ENSG00000233347 OTTHUMG00000032754 NG_000933 PGOHUM00000247562 HGNC:24625 HGNC:18311 ERP44 endoplasmic reticulum protein 44 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "KIAA0573|PDIA10" protein disulfide isomerase family A, member 10 TXNDC4 thioredoxin domain containing 4 (endoplasmic reticulum) "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2002-11-11 2009-02-23 2009-02-23 2023-01-20 23071 ENSG00000023318 OTTHUMG00000020363 uc004bam.4 AB011145 NM_015051 CCDS35082 Q9BS26 11847130 MGI:1923549 RGD:1309176 609170 HGNC:18311 "ENST00000262455.7|NM_015051.3" HGNC:18185 ERRFI1 ERBB receptor feedback inhibitor 1 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "MIG-6|GENE-33|RALT" 2005-08-23 2023-01-20 54206 ENSG00000116285 OTTHUMG00000001221 uc001aoz.4 BC025337 NM_018948 CCDS94 Q9UJM3 "10749885|2780291|12226756|11003669" MGI:1921405 RGD:1307599 608069 HGNC:18185 "ENST00000377482.10|NM_018948.4" @@ -8271,15 +8272,15 @@ HGNC:13281 ESPN espin protein-coding gene gene with protein product Approved 1p3 HGNC:27937 ESPNL espin like protein-coding gene gene with protein product Approved 2q37.3 02q37.3 FLJ42568 Ankyrin repeat domain containing 403 2006-08-24 2017-06-13 2023-01-20 339768 ENSG00000144488 OTTHUMG00000133335 uc002vxq.5 AK124559 NM_194312 "CCDS2525|CCDS77547" Q6ZVH7 "12975309|26926603" MGI:2685402 RGD:1562432 619974 HGNC:27937 "ENST00000343063.8|NM_194312.4" HGNC:23285 ESPNP espin pseudogene pseudogene pseudogene Approved 1p36.13 01p36.13 2005-07-07 2014-11-19 284729 ENSG00000268869 OTTHUMG00000000803 AL035288 NR_026567 15286153 PGOHUM00000256862 HGNC:23285 HGNC:3467 ESR1 estrogen receptor 1 protein-coding gene gene with protein product Approved 6q25.1-q25.2 06q25.1-q25.2 "NR3A1|Era|ER-alpha" "nuclear receptor subfamily 3 group A member 1|estrogen receptor alpha|oestrogen receptor alpha|E2 receptor alpha" ESR Estrogen receptors 2077 2001-06-22 2023-01-20 2099 ENSG00000091831 OTTHUMG00000016103 uc003qom.5 X03635 NM_000125 "CCDS87457|CCDS5234" P03372 3754034 MGI:1352467 RGD:2581 LRG_992|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_992.xml ESR1 133430 121614 objectId:620 HGNC:3467 "ENST00000206249.8|NM_000125.4" HGNC:3467 -HGNC:3468 ESR2 estrogen receptor 2 protein-coding gene gene with protein product Approved 14q23.2-q23.3 14q23.2-q23.3 "NR3A2|Erb|ER-beta" "ER beta|estrogen receptor beta|oestrogen receptor beta|nuclear receptor subfamily 3 group A member 2" estrogen receptor 2 (ER beta) Estrogen receptors 2077 1997-01-17 2016-03-18 2023-03-15 2100 ENSG00000140009 OTTHUMG00000141306 uc001xha.2 X99101 NM_001040275 "CCDS61469|CCDS32096|CCDS55920|CCDS9762|CCDS61470" Q92731 8769313 MGI:109392 RGD:2582 601663 474419 objectId:621 HGNC:3468 "ENST00000341099.6|NM_001437.3" HGNC:3468 +HGNC:3468 ESR2 estrogen receptor 2 protein-coding gene gene with protein product Approved 14q23.2-q23.3 14q23.2-q23.3 "NR3A2|Erb|ER-beta" "ER beta|estrogen receptor beta|oestrogen receptor beta|nuclear receptor subfamily 3 group A member 2" estrogen receptor 2 (ER beta) Estrogen receptors 2077 1997-01-17 2016-03-18 2023-03-15 2100 ENSG00000140009 OTTHUMG00000141306 uc001xha.2 X99101 NM_001040275 "CCDS32096|CCDS61470|CCDS9762|CCDS55920|CCDS61469" Q92731 8769313 MGI:109392 RGD:2582 601663 474419 objectId:621 HGNC:3468 "ENST00000341099.6|NM_001437.3" HGNC:3468 HGNC:39079 ESRG embryonic stem cell related non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 HESRG human embryonic stem cell related gene embryonic stem cell related (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2011-10-10 2018-05-16 2018-05-16 790952 ENSG00000265992 OTTHUMG00000179678 uc003dhj.4 NR_027122 Q1W209 "17803967|21861197" 611473 ESRG HGNC:39079 -HGNC:25966 ESRP1 epithelial splicing regulatory protein 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 FLJ20171 RBM35A RNA binding motif protein 35A RNA binding motif containing 725 2005-09-22 2009-03-10 2009-03-10 2023-01-20 54845 ENSG00000104413 OTTHUMG00000164587 uc003ygq.5 AK000178 NM_017697 "CCDS47898|CCDS47897|CCDS87620|CCDS47896|CCDS47895" Q6NXG1 "19285943|25143390" MGI:1917326 RGD:1560481 612959 HGNC:25966 "ENST00000433389.8|NM_017697.4" HGNC:25966 +HGNC:25966 ESRP1 epithelial splicing regulatory protein 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 FLJ20171 RBM35A RNA binding motif protein 35A RNA binding motif containing 725 2005-09-22 2009-03-10 2009-03-10 2023-01-20 54845 ENSG00000104413 OTTHUMG00000164587 uc003ygq.5 AK000178 NM_017697 "CCDS47895|CCDS87620|CCDS47898|CCDS47897|CCDS47896" Q6NXG1 "19285943|25143390" MGI:1917326 RGD:1560481 612959 HGNC:25966 "ENST00000433389.8|NM_017697.4" HGNC:25966 HGNC:26152 ESRP2 epithelial splicing regulatory protein 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ21918 RBM35B RNA binding motif protein 35B "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2005-09-22 2009-03-10 2009-03-10 2023-01-20 80004 ENSG00000103067 OTTHUMG00000137557 uc002evq.2 AK025571 NM_024939 "CCDS92181|CCDS10863" Q9H6T0 "19285943|25143390" MGI:1924661 RGD:1310855 612960 HGNC:26152 "ENST00000473183.7|NM_024939.3" -HGNC:3471 ESRRA estrogen related receptor alpha protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ERR1|ERRalpha|NR3B1|ERRa" ESRL1 Estrogen related receptors 2078 1997-04-25 2016-01-14 2023-01-20 2101 ENSG00000173153 OTTHUMG00000150641 uc001nzq.3 "X51416|L38487" NM_004451 "CCDS60830|CCDS41667" P11474 3267207 MGI:1346831 RGD:1583866 601998 objectId:622 HGNC:3471 "ENST00000000442.11|NM_004451.5" +HGNC:3471 ESRRA estrogen related receptor alpha protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ERR1|ERRalpha|NR3B1|ERRa" ESRL1 Estrogen related receptors 2078 1997-04-25 2016-01-14 2023-01-20 2101 ENSG00000173153 OTTHUMG00000150641 uc001nzq.3 "X51416|L38487" NM_004451 "CCDS41667|CCDS60830" P11474 3267207 MGI:1346831 RGD:1583866 601998 objectId:622 HGNC:3471 "ENST00000000442.11|NM_004451.5" HGNC:3472 ESRRAP1 estrogen-related receptor alpha pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 ESRRAP estrogen-related receptor alpha pseudogene 1997-10-21 2008-02-01 2008-02-01 2016-10-05 144847 ENSG00000215572 OTTHUMG00000016495 AL359457 NG_001009 "9344655|18065488" PGOHUM00000248311 HGNC:3472 HGNC:24647 ESRRAP2 estrogen-related receptor alpha pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 ESTRRA 2007-07-27 2011-03-15 144832 ENSG00000235438 OTTHUMG00000016534 U85258 NR_000033 "9344655|3267207|18065488" PGOHUM00000248516 HGNC:24647 HGNC:3473 ESRRB estrogen related receptor beta protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "ERR2|ERRbeta|NR3B2|ERRb" "ESRL2|DFNB35" deafness, autosomal recessive 35 Estrogen related receptors 2078 1997-04-25 2016-01-14 2023-01-20 2103 ENSG00000119715 OTTHUMG00000160457 uc001xsq.2 X51417 NM_001379180 "CCDS91910|CCDS9850|CCDS91909" O95718 "3267207|9344655|18179891" MGI:1346832 RGD:1359557 602167 160244 objectId:623 HGNC:3473 "ENST00000644823.1|NM_001379180.1" HGNC:3473 -HGNC:3474 ESRRG estrogen related receptor gamma protein-coding gene gene with protein product Approved 1q41 01q41 "NR3B3|ERRg|ERR-gamma" Estrogen related receptors 2078 1998-02-17 2016-01-14 2023-01-20 2104 ENSG00000196482 OTTHUMG00000037025 uc001hld.2 AF058291 NM_206595 "CCDS1517|CCDS58060|CCDS58061|CCDS41468" P62508 "9676434|10072763" MGI:1347056 RGD:1303236 602969 objectId:624 HGNC:3474 "ENST00000408911.8|NM_001438.4" +HGNC:3474 ESRRG estrogen related receptor gamma protein-coding gene gene with protein product Approved 1q41 01q41 "NR3B3|ERRg|ERR-gamma" Estrogen related receptors 2078 1998-02-17 2016-01-14 2023-01-20 2104 ENSG00000196482 OTTHUMG00000037025 uc001hld.2 AF058291 NM_206595 "CCDS58060|CCDS58061|CCDS41468|CCDS1517" P62508 "9676434|10072763" MGI:1347056 RGD:1303236 602969 objectId:624 HGNC:3474 "ENST00000408911.8|NM_001438.4" HGNC:16817 ESS2 ess-2 splicing factor homolog protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "DGSI|Es2el|ES2|DGS-H|ESS-2|bis1" "DGCR13|DGCR14" "DiGeorge syndrome critical region gene 13|DiGeorge syndrome critical region gene 14" Spliceosomal P complex 1516 2002-10-30 2017-05-31 2017-05-31 2023-01-20 8220 ENSG00000100056 OTTHUMG00000150119 uc002zou.4 L77566 NM_022719 CCDS13756 Q96DF8 "8776594|9063747|11991638|25194163|25368387" MGI:107854 RGD:1308218 601755 HGNC:16817 "ENST00000252137.11|NM_022719.3" HGNC:14865 ESX1 ESX homeobox 1 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 ESXR1 ESX1L extraembryonic, spermatogenesis, homeobox 1 homolog (mouse) PRD class homeoboxes and pseudogenes 521 2001-03-14 2006-02-08 2007-07-11 2023-01-20 80712 ENSG00000123576 OTTHUMG00000022125 uc004ely.4 AL049631 NM_153448 CCDS14516 Q8N693 "11374906|17242862" MGI:1096388 RGD:1590738 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ESX1 300154 8531 HGNC:14865 "ENST00000372588.4|NM_153448.4" HGNC:29534 ESYT1 extended synaptotagmin 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "MBC2|KIAA0747" FAM62A "family with sequence similarity 62 (C2 domain containing), member A|extended synaptotagmin-like protein 1" Extended synaptotagmins 827 2005-04-21 2009-06-23 2016-06-08 2023-01-20 23344 ENSG00000139641 OTTHUMG00000170197 uc001sjq.4 AK074368 NM_015292 "CCDS53801|CCDS8904" Q9BSJ8 "9872452|10350628|17672888" MGI:1344426 RGD:3053 616670 HGNC:29534 "ENST00000394048.10|NM_015292.3" @@ -8289,39 +8290,39 @@ HGNC:24648 ETAA1 ETAA1 activator of ATR kinase protein-coding gene gene with pro HGNC:53449 ETDA embryonic testis differentiation homolog A protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 2017-04-19 2023-01-20 101928677 ENSG00000238210 OTTHUMG00000022476 NM_001355522 CCDS87782 Q3ZM63 MGI:1916751 HGNC:53449 "ENST00000427686.3|NM_001355522.1" HGNC:44269 ETDB embryonic testis differentiation homolog B protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 LINC00633 long intergenic non-protein coding RNA 633 2012-08-02 2017-04-19 2017-04-19 2023-01-20 100129515 ENSG00000224107 OTTHUMG00000022469 uc004eyi.5 "AI015085|AY730280" NM_001355519 CCDS87781 P0DPP9 MGI:1916751 HGNC:44269 "ENST00000423661.1|NM_001355519.1" HGNC:53450 ETDC embryonic testis differentiation homolog C protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 2017-04-19 2023-01-20 110806299 ENSG00000283644 OTTHUMG00000191754 NM_001358449 CCDS87783 A0A1B0GVM5 MGI:1916751 RGD:40982935 HGNC:53450 "ENST00000635820.1|NM_001358449.1" -HGNC:3477 ETF1 eukaryotic translation termination factor 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "eRF1|TB3-1|RF1" "sup45 (yeast omnipotent suppressor 45) homolog-like 1|polypeptide chain release factor 1" "SUP45L1|ERF1|ERF" SURF complex 1963 1991-06-13 2023-01-20 2107 ENSG00000120705 OTTHUMG00000129199 uc003ldc.6 AF095901 NM_004730 "CCDS75313|CCDS75314|CCDS4207" P62495 "1546371|7990965" MGI:2385071 RGD:1305712 600285 HGNC:3477 "ENST00000360541.10|NM_004730.4" +HGNC:3477 ETF1 eukaryotic translation termination factor 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "eRF1|TB3-1|RF1" "sup45 (yeast omnipotent suppressor 45) homolog-like 1|polypeptide chain release factor 1" "SUP45L1|ERF1|ERF" SURF complex 1963 1991-06-13 2023-01-20 2107 ENSG00000120705 OTTHUMG00000129199 uc003ldc.6 AF095901 NM_004730 "CCDS75314|CCDS4207|CCDS75313" P62495 "1546371|7990965" MGI:2385071 RGD:1305712 600285 HGNC:3477 "ENST00000360541.10|NM_004730.4" HGNC:3478 ETF1P1 eukaryotic translation termination factor 1 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 HCGVII SUP45L2 1999-08-12 2016-10-05 6824 ENSG00000232757 OTTHUMG00000031163 NG_001028 "1546371|10413110" PGOHUM00000301738 HGNC:3478 HGNC:3479 ETF1P2 eukaryotic translation termination factor 1 pseudogene 2 pseudogene pseudogene Approved 7q36.1 07q36.1 SUP45L3 1999-08-12 2017-10-25 6825 ENSG00000240132 OTTHUMG00000157354 NG_001198 "1546371|10413110" PGOHUM00000303027 HGNC:3479 HGNC:3480 ETF1P3 eukaryotic translation termination factor 1 pseudogene 3 pseudogene pseudogene Approved Xq12 Xq12 SUP45L4 1999-08-12 2020-04-20 100132121 ENSG00000233833 OTTHUMG00000021725 AF110131 NG_009869 "1546371|10413110" PGOHUM00000241819 HGNC:3480 -HGNC:3481 ETFA electron transfer flavoprotein subunit alpha protein-coding gene gene with protein product Approved 15q24.2-q24.3 15q24.2-q24.3 "GA2|EMA|MADD" "glutaric aciduria II|multiple acyl-CoA dehydrogenase deficiency" electron-transfer-flavoprotein, alpha polypeptide 1986-01-01 2018-04-23 2023-01-20 2108 ENSG00000140374 OTTHUMG00000172586 uc002bbt.3 J04058 NM_000126 "CCDS45311|CCDS32299" P13804 MGI:106092 RGD:628747 608053 121619 HGNC:3481 "ENST00000557943.6|NM_000126.4" HGNC:3481 -HGNC:3482 ETFB electron transfer flavoprotein subunit beta protein-coding gene gene with protein product Approved 19q13.41 19q13.41 electron-transfer-flavoprotein, beta polypeptide 1990-06-11 2018-04-23 2023-01-20 2109 ENSG00000105379 OTTHUMG00000182903 uc002pwh.4 X71129 NM_001014763 "CCDS12828|CCDS33085" P38117 MGI:106098 RGD:1303312 130410 121624 HGNC:3482 "ENST00000309244.9|NM_001985.3" HGNC:3482 +HGNC:3481 ETFA electron transfer flavoprotein subunit alpha protein-coding gene gene with protein product Approved 15q24.2-q24.3 15q24.2-q24.3 "GA2|EMA|MADD" "glutaric aciduria II|multiple acyl-CoA dehydrogenase deficiency" electron-transfer-flavoprotein, alpha polypeptide 1986-01-01 2018-04-23 2023-01-20 2108 ENSG00000140374 OTTHUMG00000172586 uc002bbt.3 J04058 NM_000126 "CCDS32299|CCDS45311" P13804 MGI:106092 RGD:628747 608053 121619 HGNC:3481 "ENST00000557943.6|NM_000126.4" HGNC:3481 +HGNC:3482 ETFB electron transfer flavoprotein subunit beta protein-coding gene gene with protein product Approved 19q13.41 19q13.41 electron-transfer-flavoprotein, beta polypeptide 1990-06-11 2018-04-23 2023-01-20 2109 ENSG00000105379 OTTHUMG00000182903 uc002pwh.4 X71129 NM_001014763 "CCDS33085|CCDS12828" P38117 MGI:106098 RGD:1303312 130410 121624 HGNC:3482 "ENST00000309244.9|NM_001985.3" HGNC:3482 HGNC:28739 ETFBKMT electron transfer flavoprotein subunit beta lysine methyltransferase protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "DKFZp451L235|MGC50559" "C12orf72|METTL20" "chromosome 12 open reading frame 72|methyltransferase like 20" 7BS protein lysine methyltransferases 2056 2008-08-12 2016-01-05 2018-04-23 2023-01-20 254013 ENSG00000139160 OTTHUMG00000169085 uc009zjr.4 BC039535 NM_173802 CCDS8724 Q8IXQ9 "25023281|25416781" MGI:2443575 RGD:735147 615256 HGNC:28739 "ENST00000357721.3|NM_001135863.2" -HGNC:3483 ETFDH electron transfer flavoprotein dehydrogenase protein-coding gene gene with protein product Approved 4q32.1 04q32.1 ETFQO electron-transferring-flavoprotein dehydrogenase 1993-12-13 2016-01-05 2023-01-20 2110 ENSG00000171503 OTTHUMG00000161684 uc003iqb.5 S69232 NM_001281737 "CCDS64090|CCDS3800|CCDS93661" Q16134 MGI:106100 RGD:735052 231675 121626 HGNC:3483 "ENST00000511912.6|NM_004453.4" HGNC:3483 +HGNC:3483 ETFDH electron transfer flavoprotein dehydrogenase protein-coding gene gene with protein product Approved 4q32.1 04q32.1 ETFQO electron-transferring-flavoprotein dehydrogenase 1993-12-13 2016-01-05 2023-01-20 2110 ENSG00000171503 OTTHUMG00000161684 uc003iqb.5 S69232 NM_001281737 "CCDS64090|CCDS93661|CCDS3800" Q16134 MGI:106100 RGD:735052 231675 121626 HGNC:3483 "ENST00000511912.6|NM_004453.4" HGNC:3483 HGNC:27052 ETFRF1 electron transfer flavoprotein regulatory factor 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 LYRM5 LYR motif containing 5 LYR motif containing 635 2006-09-19 2016-08-02 2016-08-02 2023-01-20 144363 ENSG00000205707 OTTHUMG00000171190 uc001rgn.4 AK057730 NM_001001660 CCDS53764 Q6IPR1 27499296 MGI:1914886 RGD:2320673 HGNC:27052 "ENST00000381356.9|NM_001001660.3" HGNC:23287 ETHE1 ETHE1 persulfide dioxygenase protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "YF13H12|HSCO" ethylmalonic encephalopathy 1 MBL domain containing glyoxalase 2 subfamily 1614 2003-12-15 2019-01-22 2023-01-20 23474 ENSG00000105755 OTTHUMG00000182697 uc002owp.3 NM_014297 CCDS12622 O95571 19136963 MGI:1913321 RGD:1311034 608451 121629 1.13.11.18 HGNC:23287 "ENST00000292147.7|NM_014297.5" HGNC:23287 HGNC:24649 ETNK1 ethanolamine kinase 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "EKI1|EKI" 2004-07-09 2023-01-20 55500 ENSG00000139163 OTTHUMG00000169008 uc001rft.4 BC006111 NM_018638 "CCDS41760|CCDS8698" Q9HBU6 "11912161|11044454" MGI:1922570 RGD:1308204 LRG_1399|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1399.xml ETNK1 609858 470298 HGNC:24649 "ENST00000266517.9|NM_018638.5" HGNC:55486 ETNK1-DT ETNK1 divergent transcript non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Divergent transcripts 1990 2021-03-11 2021-03-11 105369691 ENSG00000257023 NR_135030 -HGNC:25575 ETNK2 ethanolamine kinase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ10761|EKI2" 2004-07-09 2023-01-20 55224 ENSG00000143845 OTTHUMG00000036061 uc001hao.5 AK001623 NM_018208 "CCDS1442|CCDS73006" Q9NVF9 16861741 MGI:2443760 RGD:1305304 609859 HGNC:25575 "ENST00000367202.9|NM_018208.4" -HGNC:14404 ETNPPL ethanolamine-phosphate phospho-lyase protein-coding gene gene with protein product Approved 4q25 04q25 AGXT2L1 alanine-glyoxylate aminotransferase 2-like 1 2001-01-19 2013-06-12 2013-06-12 2023-01-20 64850 ENSG00000164089 OTTHUMG00000161036 AJ298293 NM_031279 "CCDS54792|CCDS82944|CCDS3682|CCDS54793" Q8TBG4 "7592550|22241472" MGI:1919010 RGD:1590098 614682 4.2.3.2 HGNC:14404 "ENST00000296486.8|NM_031279.4" -HGNC:3488 ETS1 ETS proto-oncogene 1, transcription factor protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "FLJ10768|ETS-1" "Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1|ets protein" EWSR2 v-ets avian erythroblastosis virus E26 oncogene homolog 1 ETS transcription factor family 534 1986-01-01 2016-02-24 2023-01-20 2113 ENSG00000134954 OTTHUMG00000165799 uc010sbs.2 NM_005238 "CCDS8475|CCDS81648|CCDS53724|CCDS44767" P14921 1522903 MGI:95455 RGD:2583 164720 369352 HGNC:3488 "ENST00000392668.8|NM_001143820.2" HGNC:3488 +HGNC:25575 ETNK2 ethanolamine kinase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ10761|EKI2" 2004-07-09 2023-01-20 55224 ENSG00000143845 OTTHUMG00000036061 uc001hao.5 AK001623 NM_018208 "CCDS73006|CCDS1442" Q9NVF9 16861741 MGI:2443760 RGD:1305304 609859 HGNC:25575 "ENST00000367202.9|NM_018208.4" +HGNC:14404 ETNPPL ethanolamine-phosphate phospho-lyase protein-coding gene gene with protein product Approved 4q25 04q25 AGXT2L1 alanine-glyoxylate aminotransferase 2-like 1 2001-01-19 2013-06-12 2013-06-12 2023-01-20 64850 ENSG00000164089 OTTHUMG00000161036 AJ298293 NM_031279 "CCDS54793|CCDS3682|CCDS54792|CCDS82944" Q8TBG4 "7592550|22241472" MGI:1919010 RGD:1590098 614682 4.2.3.2 HGNC:14404 "ENST00000296486.8|NM_031279.4" +HGNC:3488 ETS1 ETS proto-oncogene 1, transcription factor protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "FLJ10768|ETS-1" "Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1|ets protein" EWSR2 v-ets avian erythroblastosis virus E26 oncogene homolog 1 ETS transcription factor family 534 1986-01-01 2016-02-24 2023-01-20 2113 ENSG00000134954 OTTHUMG00000165799 uc010sbs.2 NM_005238 "CCDS44767|CCDS81648|CCDS8475|CCDS53724" P14921 1522903 MGI:95455 RGD:2583 164720 369352 HGNC:3488 "ENST00000392668.8|NM_001143820.2" HGNC:3488 HGNC:53932 ETS1-AS1 ETS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 pancEts-1 Ets-1 promoter-associated noncoding RNA Antisense RNAs 1987 2018-07-13 2018-07-13 101929517 ENSG00000254588 OTTHUMG00000165800 NR_120581 29773901 HGNC:53932 HGNC:3489 ETS2 ETS proto-oncogene 2, transcription factor protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)|v-ets avian erythroblastosis virus E26 oncogene homolog 2" ETS transcription factor family 534 2001-06-22 2016-02-24 2023-01-20 2114 ENSG00000157557 OTTHUMG00000090769 uc002yxf.4 NM_001256295 CCDS13659 P15036 17986575 MGI:95456 RGD:1584977 164740 470300 HGNC:3489 "ENST00000360938.8|NM_005239.6" HGNC:56712 ETS2-AS1 ETS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 Antisense RNAs 1987 2023-01-23 2023-01-23 400867 ENSG00000205622 NR_120405 HGNC:55136 ETS2P1 ETS2 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 2020-07-08 2020-07-08 100131617 ENSG00000237833 NG_022640 -HGNC:3490 ETV1 ETS variant transcription factor 1 protein-coding gene gene with protein product Approved 7p21.2 07p21.2 ER81 "ets variant gene 1|ETS variant 1" ETS transcription factor family 534 1994-05-02 2019-07-25 2023-01-20 2115 ENSG00000006468 OTTHUMG00000152403 uc021zzs.2 NM_004956 "CCDS55083|CCDS55086|CCDS55088|CCDS55087|CCDS55084|CCDS55085" P50549 1340465 MGI:99254 RGD:1312007 ETV1 600541 121633 HGNC:3490 "ENST00000430479.6|NM_004956.5" -HGNC:3491 ETV2 ETS variant transcription factor 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ER71 "ets variant gene 2|ETS variant 2" ETS transcription factor family 534 1994-05-02 2019-07-25 2023-01-20 2116 ENSG00000105672 OTTHUMG00000150545 uc002oar.2 AF000671 NM_014209 "CCDS32995|CCDS77281|CCDS74341" O00321 1340465 MGI:99253 RGD:1310603 609358 HGNC:3491 "ENST00000402764.6|NM_014209.4" +HGNC:3490 ETV1 ETS variant transcription factor 1 protein-coding gene gene with protein product Approved 7p21.2 07p21.2 ER81 "ets variant gene 1|ETS variant 1" ETS transcription factor family 534 1994-05-02 2019-07-25 2023-01-20 2115 ENSG00000006468 OTTHUMG00000152403 uc021zzs.2 NM_004956 "CCDS55087|CCDS55088|CCDS55085|CCDS55086|CCDS55083|CCDS55084" P50549 1340465 MGI:99254 RGD:1312007 ETV1 600541 121633 HGNC:3490 "ENST00000430479.6|NM_004956.5" +HGNC:3491 ETV2 ETS variant transcription factor 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ER71 "ets variant gene 2|ETS variant 2" ETS transcription factor family 534 1994-05-02 2019-07-25 2023-01-20 2116 ENSG00000105672 OTTHUMG00000150545 uc002oar.2 AF000671 NM_014209 "CCDS74341|CCDS32995|CCDS77281" O00321 1340465 MGI:99253 RGD:1310603 609358 HGNC:3491 "ENST00000402764.6|NM_014209.4" HGNC:3492 ETV3 ETS variant transcription factor 3 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 PE-1 "ets variant gene 3, ETS family transcriptional repressor|ETS variant 3" ETS transcription factor family 534 1994-12-15 2019-07-25 2023-01-20 2117 ENSG00000117036 OTTHUMG00000034298 uc001fqr.3 BC022868 NM_005240 "CCDS44250|CCDS1164" P41162 8020980 MGI:1350926 RGD:1311577 164873 HGNC:3492 "ENST00000368192.9|NM_001145312.3" HGNC:33834 ETV3L ETS variant transcription factor 3 like protein-coding gene gene with protein product Approved 1q23.1 01q23.1 FLJ16478 "ets variant gene 3-like|ETS variant 3 like" ETS transcription factor family 534 2007-12-14 2019-07-25 2023-01-20 440695 ENSG00000253831 OTTHUMG00000041325 uc001fqq.3 AK131392 NM_001004341 CCDS30893 Q6ZN32 MGI:3646099 RGD:1562620 HGNC:33834 "ENST00000454449.3|NM_001004341.2" -HGNC:3493 ETV4 ETS variant transcription factor 4 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "E1A-F|E1AF|PEA3" E1A enhancer binding protein "ets variant gene 4 (E1A enhancer-binding protein, E1AF)|ETS variant 4" ETS transcription factor family 534 1995-03-27 2019-07-25 2023-01-20 2118 ENSG00000175832 OTTHUMG00000180884 uc002idx.5 U18018 NM_001986 "CCDS58553|CCDS59292|CCDS11465" P43268 "8530053|1547944" MGI:99423 RGD:1306524 ETV4 600711 235504 HGNC:3493 "ENST00000319349.10|NM_001079675.5" +HGNC:3493 ETV4 ETS variant transcription factor 4 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "E1A-F|E1AF|PEA3" E1A enhancer binding protein "ets variant gene 4 (E1A enhancer-binding protein, E1AF)|ETS variant 4" ETS transcription factor family 534 1995-03-27 2019-07-25 2023-01-20 2118 ENSG00000175832 OTTHUMG00000180884 uc002idx.5 U18018 NM_001986 "CCDS59292|CCDS11465|CCDS58553" P43268 "8530053|1547944" MGI:99423 RGD:1306524 ETV4 600711 235504 HGNC:3493 "ENST00000319349.10|NM_001079675.5" HGNC:3494 ETV5 ETS variant transcription factor 5 protein-coding gene gene with protein product Approved 3q27.2 03q27.2 ERM ets-related molecule "ets variant gene 5 (ets-related molecule)|ETS variant 5" ETS transcription factor family 534 1996-07-26 2019-07-25 2023-01-20 2119 ENSG00000244405 OTTHUMG00000156639 uc003fpz.4 BC007333 NM_004454 CCDS33906 P41161 8152800 MGI:1096867 RGD:1309590 ETV5 601600 HGNC:3494 "ENST00000306376.10|NM_004454.3" -HGNC:40222 ETV5-AS1 ETV5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.2 03q27.2 ETV5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 100873934 ENSG00000234197 OTTHUMG00000156638 uc062ram.1 ETV5-AS1 +HGNC:40222 ETV5-AS1 ETV5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.2 03q27.2 ETV5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 100873934 ENSG00000234197 OTTHUMG00000156638 uc062ram.1 NR_046594 ETV5-AS1 HGNC:3495 ETV6 ETS variant transcription factor 6 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 TEL TEL oncogene "ets variant gene 6 (TEL oncogene)|ETS variant 6" ETS transcription factor family 534 1995-11-28 2019-07-25 2023-01-20 2120 ENSG00000139083 OTTHUMG00000168538 uc001qzz.4 BC043399 NM_001987 CCDS8643 P41212 7731705 MGI:109336 RGD:1559537 LRG_609|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_609.xml ETV6 600618 139165 HGNC:3495 "ENST00000396373.9|NM_001987.5" HGNC:3495 -HGNC:18160 ETV7 ETS variant transcription factor 7 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "TEL2|TEL-2" TEL2 oncogene "ets variant gene 7 (TEL2 oncogene)|ETS variant 7" ETS transcription factor family 534 2003-05-19 2019-07-25 2023-01-20 51513 ENSG00000010030 OTTHUMG00000014594 uc011dtl.3 AF116508 NM_016135 "CCDS4819|CCDS75440|CCDS75441|CCDS56424|CCDS78131|CCDS56425|CCDS56422|CCDS56423" Q9Y603 "10828014|11108721" 605255 HGNC:18160 "ENST00000340181.9|NM_016135.4" +HGNC:18160 ETV7 ETS variant transcription factor 7 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "TEL2|TEL-2" TEL2 oncogene "ets variant gene 7 (TEL2 oncogene)|ETS variant 7" ETS transcription factor family 534 2003-05-19 2019-07-25 2023-01-20 51513 ENSG00000010030 OTTHUMG00000014594 uc011dtl.3 AF116508 NM_016135 "CCDS56424|CCDS56423|CCDS4819|CCDS56422|CCDS75440|CCDS56425|CCDS75441|CCDS78131" Q9Y603 "10828014|11108721" 605255 HGNC:18160 "ENST00000340181.9|NM_016135.4" HGNC:40833 ETV7-AS1 ETV7 and PTX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 Antisense RNAs 1987 2019-07-25 2019-07-25 105375037 ENSG00000224666 OTTHUMG00000014592 XR_007059565 HGNC:40833 HGNC:25816 EVA1A eva-1 homolog A, regulator of programmed cell death protein-coding gene gene with protein product Approved 2p12 02p12 FLJ13391 "TMEM166|FAM176A" "transmembrane protein 166|family with sequence similarity 176, member A|eva-1 homolog A (C. elegans)" 2006-07-26 2012-11-05 2016-02-15 2023-01-20 84141 ENSG00000115363 OTTHUMG00000129991 uc002snk.1 BC016157 NM_032181 CCDS1959 Q9H8M9 "22227058|25363290" MGI:2385247 RGD:1559797 618990 HGNC:25816 "ENST00000393913.8|NM_001135032.2" HGNC:55283 EVA1A-AS EVA1A antisense RNA non-coding RNA RNA, long non-coding Approved 2p12 02p12 EVA1A-AS1 Antisense RNAs 1987 2020-10-12 2020-10-12 101927884 ENSG00000231172 NR_110281 31754186 HGNC:25558 EVA1B eva-1 homolog B protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ10647 "C1orf78|FAM176B" "chromosome 1 open reading frame 78|family with sequence similarity 176, member B|eva-1 homolog B (C. elegans)" 2005-05-23 2012-11-05 2016-07-22 2023-01-20 55194 ENSG00000142694 OTTHUMG00000007867 uc001caj.1 AK001509 NM_018166 CCDS406 Q9NVM1 14702039 MGI:1922063 RGD:1308876 HGNC:25558 "ENST00000490466.2|NM_001304762.2" -HGNC:13239 EVA1C eva-1 homolog C protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B18|PRED34|B19" "C21orf64|C21orf63|FAM176C" "chromosome 21 open reading frame 64|chromosome 21 open reading frame 63|family with sequence similarity 176, member C|eva-1 homolog C (C. elegans)" 2000-09-25 2012-11-05 2016-07-22 2023-01-20 59271 ENSG00000166979 OTTHUMG00000064922 uc002ypr.3 AF358258 NM_058187 "CCDS68186|CCDS13614" P58658 "11707072|19470522|24040182" MGI:1918217 RGD:1307569 HGNC:13239 "ENST00000300255.7|NM_058187.5" +HGNC:13239 EVA1C eva-1 homolog C protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B18|PRED34|B19" "C21orf64|C21orf63|FAM176C" "chromosome 21 open reading frame 64|chromosome 21 open reading frame 63|family with sequence similarity 176, member C|eva-1 homolog C (C. elegans)" 2000-09-25 2012-11-05 2016-07-22 2023-01-20 59271 ENSG00000166979 OTTHUMG00000064922 uc002ypr.3 AF358258 NM_058187 "CCDS13614|CCDS68186" P58658 "11707072|19470522|24040182" MGI:1918217 RGD:1307569 HGNC:13239 "ENST00000300255.7|NM_058187.5" HGNC:55735 EVA1CP1 EVA1C pseudogene 1 pseudogene pseudogene Approved 4p16.1 04p16.1 2021-07-19 2021-07-19 100420821 ENSG00000249563 NG_025196 PGOHUM00000300151 HGNC:55736 EVA1CP2 EVA1C pseudogene 2 pseudogene pseudogene Approved 4p16.3 04p16.3 2021-07-19 2021-07-19 100420818 ENSG00000271977 NG_025077 PGOHUM00000299739 HGNC:55737 EVA1CP3 EVA1C pseudogene 3 pseudogene pseudogene Approved 7p22.1 07p22.1 2021-07-19 2021-07-19 100420863 ENSG00000243531 NG_026435 PGOHUM00000302036 @@ -8330,10 +8331,10 @@ HGNC:55739 EVA1CP5 EVA1C pseudogene 5 pseudogene pseudogene Approved 3p12.3 03p1 HGNC:55740 EVA1CP6 EVA1C pseudogene 6 pseudogene pseudogene Approved 3q22.1 03q22.1 2021-07-19 2021-07-19 122149299 ENSG00000251610 NG_084029 HGNC:3497 EVC EvC ciliary complex subunit 1 protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "DWF-1|EVC1" "Ellis van Creveld syndrome|Ellis van Creveld protein" 1995-04-24 2016-02-15 2023-01-20 2121 ENSG00000072840 OTTHUMG00000090427 uc003gil.2 AF216184 NM_001306090 "CCDS3383|CCDS77896" P57679 "10700184|24582806" MGI:1890596 RGD:735186 604831 121636 HGNC:3497 "ENST00000264956.11|NM_153717.3" HGNC:3497 HGNC:19747 EVC2 EvC ciliary complex subunit 2 protein-coding gene gene with protein product Approved 4p16.2 04p16.2 LBN limbin Ellis van Creveld syndrome 2 2003-04-11 2016-02-15 2023-01-20 132884 ENSG00000173040 OTTHUMG00000125493 uc003gij.4 AB083067 NM_147127 "CCDS54718|CCDS3382" Q86UK5 "12136126|12571802|24582806" MGI:1915775 RGD:1310417 607261 121639 HGNC:19747 "ENST00000344408.10|NM_147127.5" HGNC:19747 -HGNC:3499 EVI2A ecotropic viral integration site 2A protein-coding gene gene with protein product Approved 17q11.2 17q11.2 EVDA EVI2 1990-08-03 2023-01-20 2123 ENSG00000126860 OTTHUMG00000159306 uc002hgl.4 M55267 NM_014210 "CCDS42293|CCDS32608" P22794 2117566 MGI:95458 RGD:1593824 158380 HGNC:3499 "ENST00000462804.3|NM_014210.4" +HGNC:3499 EVI2A ecotropic viral integration site 2A protein-coding gene gene with protein product Approved 17q11.2 17q11.2 EVDA EVI2 1990-08-03 2023-01-20 2123 ENSG00000126860 OTTHUMG00000159306 uc002hgl.4 M55267 NM_014210 "CCDS32608|CCDS42293" P22794 2117566 MGI:95458 RGD:1593824 158380 HGNC:3499 "ENST00000462804.3|NM_014210.4" HGNC:3500 EVI2B ecotropic viral integration site 2B protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "D17S376|EVDB|CD361" CD molecules 471 1990-11-07 2023-01-20 2124 ENSG00000185862 OTTHUMG00000132869 uc002hgk.3 NM_006495 CCDS11266 P34910 1903357 MGI:1890682 RGD:6495961 158381 HGNC:3500 "ENST00000330927.5|NM_006495.4" -HGNC:3501 EVI5 ecotropic viral integration site 5 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 NB4S neuroblastoma stage 4S gene 1999-12-07 2023-01-20 7813 ENSG00000067208 OTTHUMG00000010895 uc001dox.3 AF008915 NM_005665 "CCDS30774|CCDS91002|CCDS76179" O60447 9618176 MGI:104736 RGD:2322879 602942 HGNC:3501 "ENST00000684568.2|NM_001350197.2" -HGNC:30464 EVI5L ecotropic viral integration site 5 like protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2004-07-30 2016-02-15 2023-01-20 115704 ENSG00000142459 OTTHUMG00000182454 uc002min.4 BC014111 NM_145245 "CCDS54209|CCDS12188" Q96CN4 23669355 MGI:2442167 RGD:1561962 HGNC:30464 "ENST00000538904.7|NM_001159944.3" +HGNC:3501 EVI5 ecotropic viral integration site 5 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 NB4S neuroblastoma stage 4S gene 1999-12-07 2023-01-20 7813 ENSG00000067208 OTTHUMG00000010895 uc001dox.3 AF008915 NM_005665 "CCDS76179|CCDS91002|CCDS30774" O60447 9618176 MGI:104736 RGD:2322879 602942 HGNC:3501 "ENST00000684568.2|NM_001350197.2" +HGNC:30464 EVI5L ecotropic viral integration site 5 like protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2004-07-30 2016-02-15 2023-01-20 115704 ENSG00000142459 OTTHUMG00000182454 uc002min.4 BC014111 NM_145245 "CCDS12188|CCDS54209" Q96CN4 23669355 MGI:2442167 RGD:1561962 HGNC:30464 "ENST00000538904.7|NM_001159944.3" HGNC:20234 EVL Enah/Vasp-like protein-coding gene gene with protein product Approved 14q32.2 14q32.2 RNB6 "ENAH/VASPs|MicroRNA protein coding host genes" "946|1691" 2003-01-10 2023-01-20 51466 ENSG00000196405 OTTHUMG00000171530 uc001ygu.4 AF112209 NM_001330221 "CCDS9955|CCDS81851" Q9UI08 "10945997|10993894" MGI:1194884 RGD:621150 616912 HGNC:20234 "ENST00000392920.8|NM_016337.3" HGNC:3503 EVPL envoplakin protein-coding gene gene with protein product Approved 17q25.1 17q25.1 EVPK Plakins 939 1996-03-12 2023-01-20 2125 ENSG00000167880 OTTHUMG00000180053 uc002jqi.3 U53786 NM_001988 "CCDS82207|CCDS11737" Q92817 "8938451|10409435" MGI:107507 RGD:1306141 601590 HGNC:3503 "ENST00000301607.8|NM_001988.4" HGNC:3503 HGNC:35236 EVPLL envoplakin like protein-coding gene gene with protein product Approved 17p11.2 17p11.2 Plakins 939 2008-10-24 2016-06-10 2023-01-20 645027 ENSG00000214860 OTTHUMG00000059095 uc002gte.4 NM_001145127 CCDS45626 A8MZ36 HGNC:35236 "ENST00000399134.5|NM_001145127.2" @@ -8341,11 +8342,11 @@ HGNC:3506 EVX1 even-skipped homeobox 1 protein-coding gene gene with protein pro HGNC:40223 EVX1-AS EVX1 antisense RNA non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 EVX1-AS1 EVX1 antisense RNA 1 (non-protein coding) EVX1 antisense RNA (non-protein coding) Antisense RNAs 1987 2012-05-03 2012-08-15 2014-11-19 101410536 ENSG00000253405 OTTHUMG00000159991 uc064cib.1 "DB455833|DB260732" NR_120507 EVX1-AS HGNC:40223 HGNC:3507 EVX2 even-skipped homeobox 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 eve, even-skipped homeobox homolog 2 (Drosophila) HOXL subclass homeoboxes 518 1990-09-30 2007-02-15 2023-01-20 344191 ENSG00000174279 OTTHUMG00000154173 uc010zeu.3 NM_001080458 CCDS33333 Q03828 1675198 MGI:95462 RGD:1305594 142991 8437 HGNC:3507 "ENST00000308618.5|NM_001080458.2" HGNC:26596 EWSAT1 Ewing sarcoma associated transcript 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 FLJ33768 "TMEM84|NCRNA00277|LINC00277" "transmembrane protein 84|non-protein coding RNA 277|long intergenic non-protein coding RNA 277" Long non-coding RNAs with non-systematic symbols 1992 2005-10-25 2014-11-20 2014-11-20 2023-03-15 283673 ENSG00000212766 OTTHUMG00000133319 AK091087 NR_026949 "25401475|27860482|27816050" 616492 EWSAT1 HGNC:26596 -HGNC:3508 EWSR1 EWS RNA binding protein 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 EWS Ewing sarcoma breakpoint region 1 "Zinc fingers RANBP2-type |RNA binding motif containing" "89|725" 1992-11-27 2015-11-05 2023-01-20 2130 ENSG00000182944 OTTHUMG00000151107 uc003aev.4 NM_005243 "CCDS13852|CCDS54512|CCDS54513|CCDS54514|CCDS13851" Q01844 1522903 MGI:99960 RGD:1307258 EWSR1 133450 121642 HGNC:3508 "ENST00000397938.7|NM_005243.4" HGNC:3508 -HGNC:28507 EXD1 exonuclease 3'-5' domain containing 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 MGC33637 EXDL1 exonuclease 3'-5' domain-like 1 2005-10-26 2009-02-24 2009-02-24 2023-01-20 161829 ENSG00000178997 OTTHUMG00000130232 uc001znk.5 BC030628 NM_152596 "CCDS66738|CCDS10072" Q8NHP7 "26669262|30257204" MGI:3045306 RGD:1561009 HGNC:28507 "ENST00000458580.7|NM_001286441.2" -HGNC:20217 EXD2 exonuclease 3'-5' domain containing 2 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 FLJ10738 "C14orf114|EXDL2" "chromosome 14 open reading frame 114|exonuclease 3'-5' domain-like 2" 2003-01-15 2009-02-24 2009-02-24 2023-01-20 55218 ENSG00000081177 OTTHUMG00000154496 uc010tte.2 AK001600 NM_001193360 "CCDS9793|CCDS53902" Q9NVH0 29371705 MGI:1922485 RGD:1311087 616940 HGNC:20217 "ENST00000685843.1|NM_001193360.2" -HGNC:26023 EXD3 exonuclease 3'-5' domain containing 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "LOC54932|FLJ20433|mut-7|Nbr" nibbler homolog 2009-03-04 2023-01-20 54932 ENSG00000187609 OTTHUMG00000156149 uc004cmp.4 NM_017820 "CCDS48066|CCDS75942" Q8N9H8 HGNC:26023 "ENST00000340951.9|NM_017820.5" -HGNC:3511 EXO1 exonuclease 1 protein-coding gene gene with protein product Approved 1q43 01q43 "HEX1|hExoI" rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 Exonucleases 544 1999-07-07 2023-01-20 9156 ENSG00000174371 OTTHUMG00000039965 uc001hzh.4 AF042282 NM_006027 "CCDS1620|CCDS44336" Q9UQ84 "9685493|9788596" MGI:1349427 RGD:1309465 606063 HGNC:3511 "ENST00000366548.8|NM_130398.4" HGNC:3511 +HGNC:3508 EWSR1 EWS RNA binding protein 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 EWS Ewing sarcoma breakpoint region 1 "Zinc fingers RANBP2-type |RNA binding motif containing" "89|725" 1992-11-27 2015-11-05 2023-01-20 2130 ENSG00000182944 OTTHUMG00000151107 uc003aev.4 NM_005243 "CCDS54513|CCDS54512|CCDS13852|CCDS54514|CCDS13851" Q01844 1522903 MGI:99960 RGD:1307258 EWSR1 133450 121642 HGNC:3508 "ENST00000397938.7|NM_005243.4" HGNC:3508 +HGNC:28507 EXD1 exonuclease 3'-5' domain containing 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 MGC33637 EXDL1 exonuclease 3'-5' domain-like 1 2005-10-26 2009-02-24 2009-02-24 2023-01-20 161829 ENSG00000178997 OTTHUMG00000130232 uc001znk.5 BC030628 NM_152596 "CCDS10072|CCDS66738" Q8NHP7 "26669262|30257204" MGI:3045306 RGD:1561009 HGNC:28507 "ENST00000458580.7|NM_001286441.2" +HGNC:20217 EXD2 exonuclease 3'-5' domain containing 2 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 FLJ10738 "C14orf114|EXDL2" "chromosome 14 open reading frame 114|exonuclease 3'-5' domain-like 2" 2003-01-15 2009-02-24 2009-02-24 2023-01-20 55218 ENSG00000081177 OTTHUMG00000154496 uc010tte.2 AK001600 NM_001193360 "CCDS53902|CCDS9793" Q9NVH0 29371705 MGI:1922485 RGD:1311087 616940 HGNC:20217 "ENST00000685843.1|NM_001193360.2" +HGNC:26023 EXD3 exonuclease 3'-5' domain containing 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "LOC54932|FLJ20433|mut-7|Nbr" nibbler homolog 2009-03-04 2023-01-20 54932 ENSG00000187609 OTTHUMG00000156149 uc004cmp.4 NM_017820 "CCDS75942|CCDS48066" Q8N9H8 HGNC:26023 "ENST00000340951.9|NM_017820.5" +HGNC:3511 EXO1 exonuclease 1 protein-coding gene gene with protein product Approved 1q43 01q43 "HEX1|hExoI" rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 Exonucleases 544 1999-07-07 2023-01-20 9156 ENSG00000174371 OTTHUMG00000039965 uc001hzh.4 AF042282 NM_006027 "CCDS44336|CCDS1620" Q9UQ84 "9685493|9788596" MGI:1349427 RGD:1309465 606063 HGNC:3511 "ENST00000366548.8|NM_130398.4" HGNC:3511 HGNC:26115 EXO5 exonuclease 5 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ21144 "C1orf176|DEM1" "chromosome 1 open reading frame 176|defects in morphology 1 homolog (S. cerevisiae)" Exonucleases 544 2005-07-25 2012-10-30 2012-10-30 2023-01-20 64789 ENSG00000164002 OTTHUMG00000007305 uc001cfp.4 AK024797 NM_022774 CCDS453 Q9H790 23095756 MGI:1920422 RGD:1309802 618601 HGNC:26115 "ENST00000415550.6|NM_001346953.2" HGNC:55647 EXO5-DT EXO5 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-06-28 2021-06-28 105378672 ENSG00000238287 XR_947234 HGNC:30380 EXOC1 exocyst complex component 1 protein-coding gene gene with protein product Approved 4q12 04q12 "SEC3|FLJ10893|BM-102|Sec3p" SEC3L1 SEC3-like 1 (S. cerevisiae) Exocyst complex 1055 2004-01-08 2005-11-01 2005-11-01 2023-01-20 55763 ENSG00000090989 OTTHUMG00000102165 uc003hbf.2 AK027047 NM_018261 "CCDS3502|CCDS3503" Q9NV70 "11042152|11406615" MGI:2445020 RGD:1304939 607879 HGNC:30380 "ENST00000381295.7|NM_001024924.2" @@ -8359,15 +8360,15 @@ HGNC:20120 EXOC3L4 exocyst complex component 3 like 4 protein-coding gene gene w HGNC:30389 EXOC4 exocyst complex component 4 protein-coding gene gene with protein product Approved 7q33 07q33 "KIAA1699|MGC27170|SEC8|Sec8p" SEC8L1 SEC8-like 1 (S. cerevisiae) "Exocyst complex|MicroRNA protein coding host genes" "1055|1691" 2004-01-08 2005-11-01 2005-11-01 2023-01-20 60412 ENSG00000131558 OTTHUMG00000155259 uc003vrk.4 AL831989 NM_021807 "CCDS5829|CCDS43648" Q96A65 "11214970|12687004" MGI:1096376 RGD:621791 608185 470302 HGNC:30389 "ENST00000253861.5|NM_021807.4" HGNC:10696 EXOC5 exocyst complex component 5 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "SEC10|SEC10P" SEC10L1 "SEC10 (S. cerevisiae)-like 1|SEC10-like 1 (S. cerevisiae)" Exocyst complex 1055 1999-09-09 2005-11-01 2005-11-01 2023-01-20 10640 ENSG00000070367 OTTHUMG00000171309 uc001xct.4 U85946 NM_006544 CCDS45111 O00471 9119050 MGI:2145645 RGD:708408 604469 HGNC:10696 "ENST00000621441.5|NM_006544.4" HGNC:43870 EXOC5P1 exocyst complex component 5 pseudogene 1 pseudogene pseudogene Approved 4q13.1 04q13.1 2012-04-04 2012-04-04 644548 ENSG00000180673 OTTHUMG00000160716 NG_022058 PGOHUM00000245929 HGNC:43870 -HGNC:23196 EXOC6 exocyst complex component 6 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "SEC15L|FLJ1125|DKFZp761I2124|MGC33397|Sec15|EXOC6A" SEC15L1 SEC15-like 1 (S. cerevisiae) Exocyst complex 1055 2003-10-06 2006-11-07 2006-11-07 2023-01-20 54536 ENSG00000138190 OTTHUMG00000018767 uc001kig.4 BC028395 NM_019053 "CCDS81487|CCDS7424|CCDS31247" Q8TAG9 8889548 MGI:1351611 RGD:3653 609672 HGNC:23196 "ENST00000260762.10|NM_019053.6" -HGNC:17085 EXOC6B exocyst complex component 6B protein-coding gene gene with protein product Approved 2p13.2 02p13.2 KIAA0919 "SEC15L2|SEC15B" "SEC15-like 2 (S. cerevisiae)|SEC15 homolog B (S. cerevisiae)" Exocyst complex 1055 2003-10-06 2006-11-07 2006-11-07 2023-01-20 23233 ENSG00000144036 OTTHUMG00000152723 uc010fep.4 AB023136 NM_001321729 "CCDS82468|CCDS46333" Q9Y2D4 "10231032|11406615" MGI:1923164 RGD:1560638 607880 HGNC:17085 "ENST00000272427.11|NM_015189.3" HGNC:17085 -HGNC:23214 EXOC7 exocyst complex component 7 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "EXO70|KIAA1067|YJL085W|Exo70p|BLOM4" "Exocyst complex|MicroRNA protein coding host genes" "1055|1691" 2004-01-13 2023-01-20 23265 ENSG00000182473 OTTHUMG00000150720 uc002jqr.5 BC029432 NM_015219 "CCDS45782|CCDS45783|CCDS32738|CCDS11741|CCDS74164|CCDS45781|CCDS45784" Q9UPT5 25380822 MGI:1859270 RGD:620236 608163 HGNC:23214 "ENST00000589210.6|NM_001013839.4" HGNC:23214 +HGNC:23196 EXOC6 exocyst complex component 6 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "SEC15L|FLJ1125|DKFZp761I2124|MGC33397|Sec15|EXOC6A" SEC15L1 SEC15-like 1 (S. cerevisiae) Exocyst complex 1055 2003-10-06 2006-11-07 2006-11-07 2023-01-20 54536 ENSG00000138190 OTTHUMG00000018767 uc001kig.4 BC028395 NM_019053 "CCDS7424|CCDS31247|CCDS81487" Q8TAG9 8889548 MGI:1351611 RGD:3653 609672 HGNC:23196 "ENST00000260762.10|NM_019053.6" +HGNC:17085 EXOC6B exocyst complex component 6B protein-coding gene gene with protein product Approved 2p13.2 02p13.2 KIAA0919 "SEC15L2|SEC15B" "SEC15-like 2 (S. cerevisiae)|SEC15 homolog B (S. cerevisiae)" Exocyst complex 1055 2003-10-06 2006-11-07 2006-11-07 2023-01-20 23233 ENSG00000144036 OTTHUMG00000152723 uc010fep.4 AB023136 NM_001321729 "CCDS46333|CCDS82468" Q9Y2D4 "10231032|11406615" MGI:1923164 RGD:1560638 607880 HGNC:17085 "ENST00000272427.11|NM_015189.3" HGNC:17085 +HGNC:23214 EXOC7 exocyst complex component 7 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "EXO70|KIAA1067|YJL085W|Exo70p|BLOM4" "Exocyst complex|MicroRNA protein coding host genes" "1055|1691" 2004-01-13 2023-01-20 23265 ENSG00000182473 OTTHUMG00000150720 uc002jqr.5 BC029432 NM_015219 "CCDS45782|CCDS11741|CCDS45784|CCDS74164|CCDS45781|CCDS32738|CCDS45783" Q9UPT5 25380822 MGI:1859270 RGD:620236 608163 HGNC:23214 "ENST00000589210.6|NM_001013839.4" HGNC:23214 HGNC:43871 EXOC7P1 EXOC7 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 exocyst complex component 7 pseudogene 1 2012-04-04 2022-06-15 2022-06-15 391681 ENSG00000250485 OTTHUMG00000161029 NG_022023 PGOHUM00000245649 HGNC:43871 HGNC:24659 EXOC8 exocyst complex component 8 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "SEC84|EXO84|Exo84p" "Pleckstrin homology domain containing|Exocyst complex" "682|1055" 2004-01-09 2023-01-20 149371 ENSG00000116903 OTTHUMG00000038025 uc001huq.4 AL117352 NM_175876 CCDS1593 Q8IYI6 12954101 MGI:2142527 RGD:620245 615283 476288 HGNC:24659 "ENST00000366645.1|NM_175876.5" HGNC:24659 -HGNC:3347 EXOG exo/endonuclease G protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "ENGL-a|ENGL|ENGL-b" "ENDOGL1|ENDOGL2" "endonuclease G-like 1|endonuclease G-like 2|endo/exonuclease (5'-3'), endonuclease G-like" 1999-05-25 2009-01-08 2016-09-27 2023-01-20 9941 ENSG00000157036 OTTHUMG00000131295 uc003cih.3 AB020523 NM_005107 "CCDS46795|CCDS2680" Q9Y2C4 "10231028|18187503" MGI:2143333 RGD:1304628 604051 3.1.30.- HGNC:3347 "ENST00000287675.10|NM_005107.4" +HGNC:3347 EXOG exo/endonuclease G protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "ENGL-a|ENGL|ENGL-b" "ENDOGL1|ENDOGL2" "endonuclease G-like 1|endonuclease G-like 2|endo/exonuclease (5'-3'), endonuclease G-like" 1999-05-25 2009-01-08 2016-09-27 2023-01-20 9941 ENSG00000157036 OTTHUMG00000131295 uc003cih.3 AB020523 NM_005107 "CCDS2680|CCDS46795" Q9Y2C4 "10231028|18187503" MGI:2143333 RGD:1304628 604051 3.1.30.- HGNC:3347 "ENST00000287675.10|NM_005107.4" HGNC:44547 EXOGP1 EXOG pseudogene 1 pseudogene pseudogene Approved 18q11.1 18q11.1 endo/exonuclease (5'-3'), endonuclease G-like pseudogene 1 2012-11-15 2019-01-21 2019-01-21 100128324 ENSG00000263748 OTTHUMG00000178591 NG_009889 PGOHUM00000234891 HGNC:44547 -HGNC:17286 EXOSC1 exosome component 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "hCsl4p|Csl4p|CSL4|Ski4p|SKI4|CGI-108|p13" CSL4 exosomal core protein homolog (yeast) Exosome complex 817 2004-03-26 2023-01-20 51013 ENSG00000171311 OTTHUMG00000018854 uc001kni.4 AF151866 NM_001318362 "CCDS7459|CCDS81492" Q9Y3B2 "11812149|11719186" MGI:1913833 RGD:1591855 606493 HGNC:17286 "ENST00000370902.8|NM_016046.5" HGNC:17286 -HGNC:17097 EXOSC2 exosome component 2 protein-coding gene gene with protein product Approved 9q34.12 09q34.12 "hRrp4p|Rrp4p|RRP4|p7" homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4) Exosome complex 817 2004-03-26 2023-01-20 23404 ENSG00000130713 OTTHUMG00000020811 uc004bzu.4 AK001916 NM_014285 "CCDS65160|CCDS6935|CCDS65161" Q13868 "8600032|1538749" MGI:2385133 RGD:1306573 602238 HGNC:17097 "ENST00000372358.10|NM_014285.7" HGNC:17097 +HGNC:17286 EXOSC1 exosome component 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "hCsl4p|Csl4p|CSL4|Ski4p|SKI4|CGI-108|p13" CSL4 exosomal core protein homolog (yeast) Exosome complex 817 2004-03-26 2023-01-20 51013 ENSG00000171311 OTTHUMG00000018854 uc001kni.4 AF151866 NM_001318362 "CCDS81492|CCDS7459" Q9Y3B2 "11812149|11719186" MGI:1913833 RGD:1591855 606493 HGNC:17286 "ENST00000370902.8|NM_016046.5" HGNC:17286 +HGNC:17097 EXOSC2 exosome component 2 protein-coding gene gene with protein product Approved 9q34.12 09q34.12 "hRrp4p|Rrp4p|RRP4|p7" homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4) Exosome complex 817 2004-03-26 2023-01-20 23404 ENSG00000130713 OTTHUMG00000020811 uc004bzu.4 AK001916 NM_014285 "CCDS6935|CCDS65161|CCDS65160" Q13868 "8600032|1538749" MGI:2385133 RGD:1306573 602238 HGNC:17097 "ENST00000372358.10|NM_014285.7" HGNC:17097 HGNC:17944 EXOSC3 exosome component 3 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "hRrp40p|Rrp40p|RRP40|CGI-102|p10|hRrp-40" "exosome component Rrp40|CGI-102 protein" Exosome complex 817 2004-03-26 2023-01-20 51010 ENSG00000107371 OTTHUMG00000019932 uc004aal.4 BC002437 NM_016042 "CCDS43805|CCDS35016" Q9NQT5 "10810093|11110791" MGI:1913612 RGD:1304739 606489 303747 HGNC:17944 "ENST00000327304.10|NM_016042.4" HGNC:17944 HGNC:33989 EXOSC3P1 exosome component 3 pseudogene 1 pseudogene pseudogene Approved 21q22.11 21q22.11 2008-02-05 2011-03-17 100151640 ENSG00000229007 OTTHUMG00000064920 NG_007654 PGOHUM00000239164 HGNC:33989 HGNC:33990 EXOSC3P2 exosome component 3 pseudogene 2 pseudogene pseudogene Approved 19p13.2 19p13.2 2008-02-05 2008-02-05 2016-07-25 100190954 ENSG00000269763 OTTHUMG00000182506 NG_008711 PGOHUM00000294853 HGNC:33990 @@ -8381,20 +8382,20 @@ HGNC:9138 EXOSC10 exosome component 10 protein-coding gene gene with protein pro HGNC:40456 EXOSC10-AS1 EXOSC10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 Antisense RNAs 1987 2018-09-26 2018-09-26 105376736 ENSG00000230337 OTTHUMG00000002122 NR_135061 HGNC:40456 HGNC:30578 EXPH5 exophilin 5 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 SLAC2-B synaptotagmin-like homologue lacking C2 domains b 2005-10-04 2023-03-15 23086 ENSG00000110723 OTTHUMG00000166536 uc001pkk.3 NM_015065 "CCDS76473|CCDS8341" Q8NEV8 "9734811|11773082" MGI:2443248 RGD:1560308 612878 423086 HGNC:30578 "ENST00000265843.9|NM_015065.3" HGNC:30578 HGNC:3512 EXT1 exostosin glycosyltransferase 1 protein-coding gene gene with protein product Approved 8q24.11 08q24.11 ttv "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" "LGCR|LGS" "Langer-Giedion syndrome chromosome region|exostoses (multiple) 1|exostosin 1" Exostosin glycosyltransferase family 431 1993-05-04 2013-03-01 2023-01-20 2131 ENSG00000182197 OTTHUMG00000059718 uc003yok.3 S79639 NM_000127 CCDS6324 Q16394 MGI:894663 RGD:1587375 "Multiple Osteochondroma Mutation Database|http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT1|LRG_493|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_493.xml" EXT1 608177 121645 "2.4.1.224|2.4.1.225" HGNC:3512 "ENST00000378204.7|NM_000127.3" HGNC:3512 -HGNC:3513 EXT2 exostosin glycosyltransferase 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 SOTV "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" "exostoses (multiple) 2|exostosin 2" Exostosin glycosyltransferase family 431 1994-06-01 2013-03-01 2023-01-20 2132 ENSG00000151348 OTTHUMG00000166498 uc001mxz.4 NM_000401 "CCDS53619|CCDS7908" Q93063 "8162019|9576285" MGI:108050 RGD:1307707 "Multiple Osteochondroma Mutation Database|http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT2|LRG_494|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_494.xml" EXT2 608210 121648 "2.4.1.224|2.4.1.225" HGNC:3513 "ENST00000533608.7|NM_207122.2" HGNC:3513 +HGNC:3513 EXT2 exostosin glycosyltransferase 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 SOTV "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" "exostoses (multiple) 2|exostosin 2" Exostosin glycosyltransferase family 431 1994-06-01 2013-03-01 2023-01-20 2132 ENSG00000151348 OTTHUMG00000166498 uc001mxz.4 NM_000401 "CCDS7908|CCDS53619" Q93063 "8162019|9576285" MGI:108050 RGD:1307707 "Multiple Osteochondroma Mutation Database|http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT2|LRG_494|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_494.xml" EXT2 608210 121648 "2.4.1.224|2.4.1.225" HGNC:3513 "ENST00000533608.7|NM_207122.2" HGNC:3513 HGNC:3515 EXTL1 exostosin like glycosyltransferase 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "EXTL|MGC70794" "glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|alpha-N-acetylglucosaminyltransferase II|glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase|exostosin-L" exostoses (multiple)-like 1 Exostosin glycosyltransferase family 431 1997-06-12 2016-06-01 2023-01-20 2134 ENSG00000158008 OTTHUMG00000007509 uc001blf.4 U67191 NM_004455 CCDS271 Q92935 9037597 MGI:1888742 RGD:1309572 601738 2.4.1.224 HGNC:3515 "ENST00000374280.4|NM_004455.3" HGNC:3516 EXTL2 exostosin like glycosyltransferase 2 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 alpha-1,4-N-acteylhexosaminyltransferase exostoses (multiple)-like 2 Exostosin glycosyltransferase family 431 1998-03-20 2016-06-01 2023-01-20 2135 ENSG00000162694 OTTHUMG00000011814 uc001dtl.3 U76189 NM_001439 "CCDS775|CCDS72831" Q9UBQ6 "9450183|15831490" MGI:1889574 RGD:1307684 602411 2.4.1.223 HGNC:3516 "ENST00000370114.8|NM_001033025.3" HGNC:3517 EXTL2P1 exostosin like glycosyltransferase 2 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 EXTL2P exostoses (multiple)-like 2 pseudogene 1998-03-20 2010-03-12 2016-06-01 2020-04-20 100287682 ENSG00000223976 OTTHUMG00000154110 NG_016787 9450183 PGOHUM00000241025 HGNC:3517 HGNC:3518 EXTL3 exostosin like glycosyltransferase 3 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "botv|REGR" "REG receptor|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase" exostoses (multiple)-like 3 Exostosin glycosyltransferase family 431 1998-03-20 2016-02-17 2023-01-20 2137 ENSG00000012232 OTTHUMG00000102146 uc003xgz.3 U76188 NM_001440 CCDS6070 O43909 "9479495|9450183|11257457" MGI:1860765 RGD:62065 605744 2.4.1.223 HGNC:3518 "ENST00000220562.9|NM_001440.4" HGNC:27985 EXTL3-AS1 EXTL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p21.1 08p21.1 C8orf50 "chromosome 8 open reading frame 50|EXTL3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-08-11 2012-04-13 2012-08-15 2020-04-20 101929402 ENSG00000246339 OTTHUMG00000164029 uc003xgy.4 BC043205 NR_126027 12477932 EXTL3-AS1 HGNC:27985 -HGNC:3519 EYA1 EYA transcriptional coactivator and phosphatase 1 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 BOR "eyes absent (Drosophila) homolog 1|eyes absent homolog 1 (Drosophila)" EYA transcriptional coactivator and phosphatases 1044 1996-12-12 2014-06-19 2023-01-20 2138 ENSG00000104313 OTTHUMG00000149894 uc003xyu.3 AJ000098 "NM_000503|NM_172060" "CCDS47873|CCDS94313|CCDS75750|CCDS34907|CCDS34906|CCDS94312" Q99502 9020840 MGI:109344 RGD:1584849 601653 121651 HGNC:3519 "ENST00000340726.8|NM_000503.6" HGNC:3519 +HGNC:3519 EYA1 EYA transcriptional coactivator and phosphatase 1 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 BOR "eyes absent (Drosophila) homolog 1|eyes absent homolog 1 (Drosophila)" EYA transcriptional coactivator and phosphatases 1044 1996-12-12 2014-06-19 2023-01-20 2138 ENSG00000104313 OTTHUMG00000149894 uc003xyu.3 AJ000098 "NM_000503|NM_172060" "CCDS47873|CCDS94312|CCDS34906|CCDS34907|CCDS94313|CCDS75750" Q99502 9020840 MGI:109344 RGD:1584849 601653 121651 HGNC:3519 "ENST00000340726.8|NM_000503.6" HGNC:3519 HGNC:3520 EYA2 EYA transcriptional coactivator and phosphatase 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 EAB1 "eyes absent (Drosophila) homolog 2|eyes absent homolog 2 (Drosophila)" "EYA transcriptional coactivator and phosphatases|MicroRNA protein coding host genes" "1044|1691" 1997-06-24 2014-06-19 2023-03-15 2139 ENSG00000064655 OTTHUMG00000033041 uc002xsm.3 NM_005244 "CCDS54471|CCDS13403" O00167 9020840 MGI:109341 RGD:620096 601654 HGNC:3520 "ENST00000327619.10|NM_005244.5" HGNC:56333 EYA2-AS1 EYA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 Antisense RNAs 1987 2022-09-16 2022-09-16 101927355 ENSG00000236028 NR_183876 35740273 -HGNC:3521 EYA3 EYA transcriptional coactivator and phosphatase 3 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 DKFZp686C132 "eyes absent (Drosophila) homolog 3|eyes absent homolog 3 (Drosophila)" EYA transcriptional coactivator and phosphatases 1044 1997-06-24 2014-06-19 2023-03-15 2140 ENSG00000158161 OTTHUMG00000003916 uc001bpi.3 U81602 NM_001990 "CCDS60051|CCDS60052|CCDS60050|CCDS316" Q99504 9020840 MGI:109339 RGD:1309932 601655 HGNC:3521 "ENST00000373871.8|NM_001990.4" -HGNC:3522 EYA4 EYA transcriptional coactivator and phosphatase 4 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "DFNA10|CMD1J" "eyes absent (Drosophila) homolog 4|eyes absent homolog 4 (Drosophila)" EYA transcriptional coactivator and phosphatases 1044 1998-07-15 2014-06-19 2023-03-15 2070 ENSG00000112319 OTTHUMG00000015602 uc011ecs.3 Y17114 NM_004100 "CCDS94004|CCDS43506|CCDS5165|CCDS75521|CCDS75523|CCDS94005" O95677 "9887327|11159937" MGI:1337104 RGD:1307099 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_418|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_418.xml" 603550 121654 HGNC:3522 "ENST00000355286.12|NM_004100.5" HGNC:3522 -HGNC:21555 EYS eyes shut homolog protein-coding gene gene with protein product Approved 6q12 06q12 "dJ1018A4.2|bA166P24.2|SPAM|bA307F22.3|dJ303F19.1|bA74E24.1" "C6orf180|EGFL11|RP25|EGFL10|C6orf178|C6orf179" "chromosome 6 open reading frame 180|EGF-like-domain, multiple 11|retinitis pigmentosa 25 (autosomal recessive)|EGF-like-domain, multiple 10|chromosome 6 open reading frame 178|chromosome 6 open reading frame 179|eyes shut homolog (Drosophila)" 2003-11-26 2008-10-20 2018-08-02 2023-01-20 346007 ENSG00000188107 OTTHUMG00000014971 uc011dxu.1 NM_001292009 "CCDS78156|CCDS4967|CCDS47446|CCDS47445" Q5T1H1 "18836446|18976725" 612424 169936 HGNC:21555 "ENST00000503581.6|NM_001142800.2" HGNC:21555 +HGNC:3521 EYA3 EYA transcriptional coactivator and phosphatase 3 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 DKFZp686C132 "eyes absent (Drosophila) homolog 3|eyes absent homolog 3 (Drosophila)" EYA transcriptional coactivator and phosphatases 1044 1997-06-24 2014-06-19 2023-03-15 2140 ENSG00000158161 OTTHUMG00000003916 uc001bpi.3 U81602 NM_001990 "CCDS60052|CCDS60051|CCDS60050|CCDS316" Q99504 9020840 MGI:109339 RGD:1309932 601655 HGNC:3521 "ENST00000373871.8|NM_001990.4" +HGNC:3522 EYA4 EYA transcriptional coactivator and phosphatase 4 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "DFNA10|CMD1J" "eyes absent (Drosophila) homolog 4|eyes absent homolog 4 (Drosophila)" EYA transcriptional coactivator and phosphatases 1044 1998-07-15 2014-06-19 2023-03-15 2070 ENSG00000112319 OTTHUMG00000015602 uc011ecs.3 Y17114 NM_004100 "CCDS94004|CCDS94005|CCDS5165|CCDS75523|CCDS43506|CCDS75521" O95677 "9887327|11159937" MGI:1337104 RGD:1307099 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_418|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_418.xml" 603550 121654 HGNC:3522 "ENST00000355286.12|NM_004100.5" HGNC:3522 +HGNC:21555 EYS eyes shut homolog protein-coding gene gene with protein product Approved 6q12 06q12 "dJ1018A4.2|bA166P24.2|SPAM|bA307F22.3|dJ303F19.1|bA74E24.1" "C6orf180|EGFL11|RP25|EGFL10|C6orf178|C6orf179" "chromosome 6 open reading frame 180|EGF-like-domain, multiple 11|retinitis pigmentosa 25 (autosomal recessive)|EGF-like-domain, multiple 10|chromosome 6 open reading frame 178|chromosome 6 open reading frame 179|eyes shut homolog (Drosophila)" 2003-11-26 2008-10-20 2018-08-02 2023-01-20 346007 ENSG00000188107 OTTHUMG00000014971 uc011dxu.1 NM_001292009 "CCDS47445|CCDS4967|CCDS78156|CCDS47446" Q5T1H1 "18836446|18976725" 612424 169936 HGNC:21555 "ENST00000503581.6|NM_001142800.2" HGNC:21555 HGNC:3526 EZH1 enhancer of zeste 1 polycomb repressive complex 2 subunit protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KIAA0388|KMT6B" "enhancer of zeste (Drosophila) homolog 1|enhancer of zeste homolog 1 (Drosophila)" "Lysine methyltransferases|Myb/SANT domain containing|Polycomb repressive complex 2|SET domain containing|MicroRNA protein coding host genes" "487|532|1347|1399|1691" 1995-12-21 2014-05-28 2023-01-20 2145 ENSG00000108799 OTTHUMG00000180645 uc002iaz.4 NM_001991 "CCDS32659|CCDS82130|CCDS82129" Q92800 8921387 MGI:1097695 RGD:1305028 601674 objectId:2835 HGNC:3526 "ENST00000428826.7|NM_001991.5" -HGNC:3527 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "EZH1|ENX-1|KMT6|KMT6A" "enhancer of zeste (Drosophila) homolog 2|enhancer of zeste homolog 2 (Drosophila)" "Lysine methyltransferases|Myb/SANT domain containing|Polycomb repressive complex 2|SET domain containing" "487|532|1347|1399" 1995-12-21 2014-05-28 2023-01-20 2146 ENSG00000106462 OTTHUMG00000158973 uc003wfb.3 NM_004456 "CCDS5892|CCDS56517|CCDS5891|CCDS56518|CCDS56516" Q15910 "8954776|17172412" MGI:107940 RGD:1595860 LRG_531|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_531.xml EZH2 601573 291819 objectId:2654 HGNC:3527 "ENST00000320356.7|NM_004456.5" HGNC:3527 +HGNC:3527 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "EZH1|ENX-1|KMT6|KMT6A" "enhancer of zeste (Drosophila) homolog 2|enhancer of zeste homolog 2 (Drosophila)" "Lysine methyltransferases|Myb/SANT domain containing|Polycomb repressive complex 2|SET domain containing" "487|532|1347|1399" 1995-12-21 2014-05-28 2023-01-20 2146 ENSG00000106462 OTTHUMG00000158973 uc003wfb.3 NM_004456 "CCDS5891|CCDS5892|CCDS56518|CCDS56516|CCDS56517" Q15910 "8954776|17172412" MGI:107940 RGD:1595860 LRG_531|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_531.xml EZH2 601573 291819 objectId:2654 HGNC:3527 "ENST00000320356.7|NM_004456.5" HGNC:3527 HGNC:39918 EZH2P1 enhancer of zeste 2 polycomb repressive complex 2 subunit pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 enhancer of zeste homolog 2 (Drosophila) pseudogene 1 2011-04-12 2015-03-18 2015-03-18 266693 ENSG00000231300 OTTHUMG00000086464 NG_002373 PGOHUM00000239072 HGNC:39918 HGNC:33738 EZHIP EZH inhibitory protein protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CATACOMB catalytic antagonist of Polycomb CXorf67 chromosome X open reading frame 67 2009-04-14 2019-03-29 2019-03-29 2023-01-20 340602 ENSG00000187690 OTTHUMG00000187481 uc064zgx.1 BC046248 NM_203407 CCDS78485 Q86X51 "30923826|31086175|31281901" MGI:2147968 RGD:7681336 301036 HGNC:33738 "ENST00000342995.4|NM_203407.3" HGNC:12691 EZR ezrin protein-coding gene gene with protein product Approved 6q25.3 06q25.3 cytovillin 2 VIL2 villin 2 (ezrin) "A-kinase anchoring proteins|FERM domain containing" "396|1293" 1989-06-30 2007-11-29 2007-11-29 2023-01-20 7430 ENSG00000092820 OTTHUMG00000015917 uc003qru.5 AF187552 NM_003379 CCDS5258 P15311 MGI:98931 RGD:621161 EZR 123900 448725 HGNC:12691 "ENST00000367075.4|NM_001111077.2" HGNC:12691 @@ -8403,17 +8404,17 @@ HGNC:56464 EZRP1 EZR pseudogene 1 pseudogene pseudogene Approved 3q13.11 03q13.1 HGNC:3535 F2 coagulation factor II, thrombin protein-coding gene gene with protein product Approved 11p11.2 11p11.2 prepro-coagulation factor II coagulation factor II (thrombin) "Receptor ligands|Gla domain containing|Complement system regulators and receptors" "542|1250|1639" 2001-06-22 2016-01-15 2023-01-20 2147 ENSG00000180210 OTTHUMG00000150344 uc001ndf.5 M33031 NM_000506 CCDS31476 P00734 MGI:88380 RGD:61996 LRG_551|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_551.xml 176930 121671 S01.217 ligandId:4452 3.4.21.5 HGNC:3535 "ENST00000311907.10|NM_000506.5" HGNC:3535 HGNC:3537 F2R coagulation factor II thrombin receptor protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "TR|CF2R|PAR1|PAR-1" protease activated receptor 1 coagulation factor II (thrombin) receptor F2R receptors 219 1991-07-16 2016-01-15 2023-01-20 2149 ENSG00000181104 OTTHUMG00000131299 uc003ken.5 M62424 NM_001992 CCDS4032 P25116 8395910 MGI:101802 RGD:2586 LRG_641|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_641.xml 187930 470304 objectId:347 HGNC:3537 "ENST00000319211.5|NM_001992.5" HGNC:3538 F2RL1 F2R like trypsin receptor 1 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 PAR2 proteinase-activated receptor-2 GPR11 coagulation factor II (thrombin) receptor-like 1 F2R receptors 219 1997-10-27 2016-01-20 2023-01-20 2150 ENSG00000164251 OTTHUMG00000102118 uc003keo.4 BC018130 NM_005242 CCDS4033 P55085 "7937743|7556175" MGI:101910 RGD:620866 600933 470306 objectId:348 HGNC:3538 "ENST00000296677.5|NM_005242.6" -HGNC:3539 F2RL2 coagulation factor II thrombin receptor like 2 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 PAR3 proteinase-activated receptor-3 coagulation factor II (thrombin) receptor-like 2 F2R receptors 219 1997-10-27 2016-01-20 2023-01-20 2151 ENSG00000164220 OTTHUMG00000102119 uc003kem.4 U92971 NM_004101 "CCDS4031|CCDS58959" O00254 "9087410|9722561" MGI:1298208 RGD:620871 601919 objectId:349 HGNC:3539 "ENST00000296641.5|NM_004101.4" +HGNC:3539 F2RL2 coagulation factor II thrombin receptor like 2 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 PAR3 proteinase-activated receptor-3 coagulation factor II (thrombin) receptor-like 2 F2R receptors 219 1997-10-27 2016-01-20 2023-01-20 2151 ENSG00000164220 OTTHUMG00000102119 uc003kem.4 U92971 NM_004101 "CCDS58959|CCDS4031" O00254 "9087410|9722561" MGI:1298208 RGD:620871 601919 objectId:349 HGNC:3539 "ENST00000296641.5|NM_004101.4" HGNC:3540 F2RL3 F2R like thrombin or trypsin receptor 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 PAR4 proteinase-activated receptor-4 "coagulation factor II (thrombin) receptor-like 3|F2R like thrombin/trypsin receptor 3" F2R receptors 219 1999-01-13 2017-05-31 2023-01-20 9002 ENSG00000127533 OTTHUMG00000182647 uc002nfa.4 AF055917 NM_003950 CCDS12350 Q96RI0 9618465 MGI:1298207 RGD:620872 LRG_633|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_633.xml 602779 objectId:350 HGNC:3540 "ENST00000248076.4|NM_003950.4" HGNC:3541 F3 coagulation factor III, tissue factor protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "CD142|TF" tissue factor coagulation factor III (thromboplastin, tissue factor) CD molecules 471 2001-06-22 2016-01-15 2023-01-20 2152 ENSG00000117525 OTTHUMG00000010716 uc001dqr.4 BC011029 NM_001993 "CCDS750|CCDS53345" P13726 MGI:88381 RGD:2587 LRG_552|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_552.xml 134390 objectId:3192 CD142 HGNC:3541 "ENST00000334047.12|NM_001993.5" HGNC:3542 F5 coagulation factor V protein-coding gene gene with protein product Approved 1q24.2 01q24.2 coagulation factor V (proaccelerin, labile factor) 2001-06-22 2016-01-15 2023-01-20 2153 ENSG00000198734 OTTHUMG00000034595 uc001ggg.2 M14335 NM_000130 CCDS1281 P12259 MGI:88382 RGD:1589758 LRG_553|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_553.xml 612309 121673 objectId:2606 HGNC:3542 "ENST00000367797.9|NM_000130.5" HGNC:3542 -HGNC:3544 F7 coagulation factor VII protein-coding gene gene with protein product Approved 13q34 13q34 "eptacog alfa|FVII coagulation protein|factor VII" coagulation factor VII (serum prothrombin conversion accelerator) Gla domain containing 1250 2001-06-22 2016-01-15 2023-01-20 2155 ENSG00000057593 OTTHUMG00000017373 uc001vsv.5 NM_000131 "CCDS9529|CCDS9528|CCDS73602" P08709 "3264725|2511201" MGI:109325 RGD:628678 LRG_554|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_554.xml 613878 121675 S01.215 objectId:2363 3.4.21.21 HGNC:3544 "ENST00000346342.8|NM_019616.4" HGNC:3544 +HGNC:3544 F7 coagulation factor VII protein-coding gene gene with protein product Approved 13q34 13q34 "eptacog alfa|FVII coagulation protein|factor VII" coagulation factor VII (serum prothrombin conversion accelerator) Gla domain containing 1250 2001-06-22 2016-01-15 2023-01-20 2155 ENSG00000057593 OTTHUMG00000017373 uc001vsv.5 NM_000131 "CCDS9528|CCDS73602|CCDS9529" P08709 "3264725|2511201" MGI:109325 RGD:628678 LRG_554|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_554.xml 613878 121675 S01.215 objectId:2363 3.4.21.21 HGNC:3544 "ENST00000346342.8|NM_019616.4" HGNC:3544 HGNC:3545 F7R coagulation factor VII regulator other unknown Approved 8p23.2-p23.1 08p23.2-p23.1 F7E 2001-06-22 2013-03-15 2156 "3410461|6714981" HGNC:3546 F8 coagulation factor VIII protein-coding gene gene with protein product Approved Xq28 Xq28 "FVIII|DXS1253E|HEMA" "Factor VIIIF8B|hemophilia A" F8C coagulation factor VIII, procoagulant component 2001-06-22 2016-01-15 2023-01-20 2157 ENSG00000185010 OTTHUMG00000022688 uc004fmt.4 M90707 NM_000132 "CCDS44026|CCDS35457" P00451 "6438528|3935400" MGI:88383 RGD:727845 "HAMSTeRS: The Haemophilia A Mutation, Structure, Test & Resource Site|http://hadb.org.uk/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/F8|LRG_555|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_555.xml" 300841 121677 objectId:2607 HGNC:3546 "ENST00000360256.9|NM_000132.4" HGNC:3546 HGNC:3547 F8A1 coagulation factor VIII associated 1 protein-coding gene gene with protein product Approved Xq28 Xq28 DXS522E F8A coagulation factor VIII-associated (intronic transcript) 1 2000-08-24 2004-11-02 2017-05-12 2023-01-20 8263 ENSG00000288722 OTTHUMG00000013500 uc004fmv.4 M34677 NM_012151 CCDS35459 P23610 2110545 MGI:95474 RGD:1566014 305423 HGNC:3547 "ENST00000610495.2|NM_012151.4" HGNC:31849 F8A2 coagulation factor VIII associated 2 protein-coding gene gene with protein product Approved Xq28 Xq28 coagulation factor VIII-associated (intronic transcript) 2 2004-11-01 2017-05-12 2023-01-20 474383 ENSG00000288709 OTTHUMG00000034293 uc004fni.4 NM_001007523 CCDS35462 P23610 MGI:95474 HGNC:31849 "ENST00000369505.5|NM_001007523.2" HGNC:31850 F8A3 coagulation factor VIII associated 3 protein-coding gene gene with protein product Approved Xq28 Xq28 coagulation factor VIII-associated (intronic transcript) 3 2004-11-01 2017-05-12 2023-01-20 474384 ENSG00000277150 OTTHUMG00000034289 uc004fnj.4 NM_001007524 CCDS35463 P23610 MGI:95474 HGNC:31850 "ENST00000622749.2|NM_001007524.2" -HGNC:3551 F9 coagulation factor IX protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 FIX "Factor IX|plasma thromboplastic component|Christmas disease|hemophilia B" Gla domain containing 1250 2001-06-22 2008-08-01 2023-01-20 2158 ENSG00000101981 OTTHUMG00000022536 uc004fas.2 M11309 NM_000133 "CCDS83495|CCDS14666" P00740 MGI:88384 RGD:2589 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/F9|LRG_556|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_556.xml" 300746 121683 S01.214 objectId:2364 3.4.21.22 HGNC:3551 "ENST00000218099.7|NM_000133.4" HGNC:3551 +HGNC:3551 F9 coagulation factor IX protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 FIX "Factor IX|plasma thromboplastic component|Christmas disease|hemophilia B" Gla domain containing 1250 2001-06-22 2008-08-01 2023-01-20 2158 ENSG00000101981 OTTHUMG00000022536 uc004fas.2 M11309 NM_000133 "CCDS14666|CCDS83495" P00740 MGI:88384 RGD:2589 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/F9|LRG_556|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_556.xml" 300746 121683 S01.214 objectId:2364 3.4.21.22 HGNC:3551 "ENST00000218099.7|NM_000133.4" HGNC:3551 HGNC:3528 F10 coagulation factor X protein-coding gene gene with protein product Approved 13q34 13q34 Gla domain containing 1250 2001-06-22 2023-01-20 2159 ENSG00000126218 OTTHUMG00000017374 uc001vsx.4 NM_000504 "CCDS9530|CCDS81783" P00742 MGI:103107 RGD:61850 LRG_548|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_548.xml 613872 121658 S01.216 objectId:2359 3.4.21.6 HGNC:3528 "ENST00000375559.8|NM_000504.4" HGNC:3528 HGNC:40225 F10-AS1 F10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 F10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-09 2012-08-15 2014-11-19 104413892 ENSG00000231882 OTTHUMG00000133691 uc058yln.1 NR_126424 F10-AS1 HGNC:40225 HGNC:3529 F11 coagulation factor XI protein-coding gene gene with protein product Approved 4q35.2 04q35.2 FXI plasma thromboplastin antecedent 1988-05-11 2008-08-01 2023-01-20 2160 ENSG00000088926 OTTHUMG00000150311 uc003iza.2 M13142 NM_000128 "CCDS3847|CCDS87285" P03951 MGI:99481 RGD:1309364 LRG_583|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_583.xml 264900 121660 S01.213 objectId:2360 3.4.21.27 HGNC:3529 "ENST00000403665.7|NM_000128.4" HGNC:3529 @@ -8426,8 +8427,8 @@ HGNC:21197 FA2H fatty acid 2-hydroxylase protein-coding gene gene with protein p HGNC:3553 FAAH fatty acid amide hydrolase protein-coding gene gene with protein product Approved 1p33 01p33 "FAAH-1|FAAH1" 1998-01-20 2023-05-22 2166 ENSG00000117480 OTTHUMG00000007811 uc001cpu.3 U82535 NM_001441 CCDS535 O00519 9122178 MGI:109609 RGD:61808 602935 objectId:1400 HGNC:3553 "ENST00000243167.9|NM_001441.3" HGNC:26440 FAAH2 fatty acid amide hydrolase 2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "RP11-479E16.1|FLJ31204|FAAH-2" AMDD amidase domain containing 2006-07-11 2006-11-24 2006-11-24 2023-01-20 158584 ENSG00000165591 OTTHUMG00000021684 uc004dvc.4 AK055766 NM_174912 CCDS14375 Q6GMR7 17015445 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAAH2 300654 objectId:1401 HGNC:26440 "ENST00000374900.5|NM_174912.4" HGNC:50679 FAAHP1 fatty acid amide hydrolase pseudogene 1 pseudogene pseudogene Approved 1p33 01p33 FAAH-OUT LINC00505 long intergenic non-protein coding RNA 505 2014-06-05 2019-09-05 729041 ENSG00000232022 OTTHUMG00000007812 NR_045483 30929760 618375 PGOHUM00000244703 HGNC:50679 -HGNC:26428 FAAP20 FA core complex associated protein 20 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ31031 C1orf86 "chromosome 1 open reading frame 86|Fanconi anemia core complex associated protein 20" 2005-05-27 2015-05-29 2018-05-09 2023-01-20 199990 ENSG00000162585 OTTHUMG00000001404 AK126870 NM_182533 "CCDS57965|CCDS38|CCDS72686|CCDS72687" Q6NZ36 "14702039|22343915" MGI:1914763 RGD:1308923 615183 HGNC:26428 "ENST00000378546.9|NM_182533.4" -HGNC:28467 FAAP24 FA core complex associated protein 24 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "FLJ46828|MGC32020" Fanconi anemia-associated protein, 24kDa C19orf40 "chromosome 19 open reading frame 40|Fanconi anemia core complex associated protein 24" 2006-03-31 2015-05-29 2018-05-09 2023-01-20 91442 ENSG00000131944 OTTHUMG00000180339 AK128668 NM_152266 "CCDS74327|CCDS12426" Q9BTP7 17289582 MGI:2142208 RGD:1564719 610884 HGNC:28467 "ENST00000588258.6|NM_152266.5" +HGNC:26428 FAAP20 FA core complex associated protein 20 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ31031 C1orf86 "chromosome 1 open reading frame 86|Fanconi anemia core complex associated protein 20" 2005-05-27 2015-05-29 2018-05-09 2023-01-20 199990 ENSG00000162585 OTTHUMG00000001404 AK126870 NM_182533 "CCDS38|CCDS57965|CCDS72686|CCDS72687" Q6NZ36 "14702039|22343915" MGI:1914763 RGD:1308923 615183 HGNC:26428 "ENST00000378546.9|NM_182533.4" +HGNC:28467 FAAP24 FA core complex associated protein 24 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "FLJ46828|MGC32020" Fanconi anemia-associated protein, 24kDa C19orf40 "chromosome 19 open reading frame 40|Fanconi anemia core complex associated protein 24" 2006-03-31 2015-05-29 2018-05-09 2023-01-20 91442 ENSG00000131944 OTTHUMG00000180339 AK128668 NM_152266 "CCDS12426|CCDS74327" Q9BTP7 17289582 MGI:2142208 RGD:1564719 610884 HGNC:28467 "ENST00000588258.6|NM_152266.5" HGNC:26171 FAAP100 FA core complex associated protein 100 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ22175 Fanconi anemia-associated protein, 100kDa C17orf70 "chromosome 17 open reading frame 70|Fanconi anemia core complex associated protein 100" 2005-12-19 2015-05-29 2018-05-09 2023-01-20 80233 ENSG00000185504 OTTHUMG00000167764 BC008883 NM_025161 CCDS32765 Q0VG06 17396147 MGI:1919135 RGD:1306926 611301 HGNC:26171 "ENST00000327787.13|NM_025161.6" HGNC:3555 FABP1 fatty acid binding protein 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 L-FABP fatty acid binding protein 1, liver Fatty acid binding protein family 550 2001-06-22 2016-01-20 2023-01-20 2168 ENSG00000163586 OTTHUMG00000130312 uc002sst.3 M10617 NM_001443 CCDS2001 P07148 "3012800|17698986" MGI:95479 RGD:2590 134650 objectId:2531 HGNC:3555 "ENST00000295834.8|NM_001443.3" HGNC:3556 FABP2 fatty acid binding protein 2 protein-coding gene gene with protein product Approved 4q26 04q26 I-FABP fatty acid binding protein 2, intestinal Fatty acid binding protein family 550 1986-01-01 2016-01-20 2023-01-20 2169 ENSG00000145384 OTTHUMG00000132972 uc003icw.4 J03465 NM_000134 CCDS3712 P12104 MGI:95478 RGD:2591 134640 objectId:2532 HGNC:3556 "ENST00000274024.4|NM_000134.4" @@ -8452,7 +8453,7 @@ HGNC:31065 FABP5P14 fatty acid binding protein 5 pseudogene 14 pseudogene pseudo HGNC:31071 FABP5P15 fatty acid binding protein 5 pseudogene 15 pseudogene pseudogene Approved Xq21.1 Xq21.1 FABP5L15 fatty acid binding protein 5-like 15 (pseudogene) 2010-09-30 2010-10-12 2010-10-12 2014-11-18 100873958 ENSG00000237106 OTTHUMG00000021881 NG_032191 PGOHUM00000241865 HGNC:31071 HGNC:3561 FABP6 fatty acid binding protein 6 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "I-15P|ILLBP|I-BAP|ILBP3|I-BABP|ILBP|I-BALB" "illeal lipid-binding protein|ileal bile acid binding protein|gastrotropin" fatty acid binding protein 6, ileal Fatty acid binding protein family 550 1997-09-12 2016-01-20 2023-01-20 2172 ENSG00000170231 OTTHUMG00000130329 uc003lya.2 U19869 NM_001040442 "CCDS4349|CCDS43393" P51161 "7894165|7619861" MGI:96565 RGD:2592 600422 objectId:2536 HGNC:3561 "ENST00000402432.4|NM_001445.3" HGNC:40226 FABP6-AS1 FABP6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 Antisense RNAs 1987 2019-07-25 2019-07-25 105377690 ENSG00000247699 OTTHUMG00000163565 XR_002956232 HGNC:40226 -HGNC:3562 FABP7 fatty acid binding protein 7 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "B-FABP|BLBP" brain lipid binding protein fatty acid binding protein 7, brain Fatty acid binding protein family 550 1998-01-20 2016-01-20 2023-01-20 2173 ENSG00000164434 OTTHUMG00000015489 uc003pzf.4 D88648 NM_001446 "CCDS83121|CCDS5127" O15540 9375786 MGI:101916 RGD:69312 602965 objectId:2537 HGNC:3562 "ENST00000368444.8|NM_001446.5" +HGNC:3562 FABP7 fatty acid binding protein 7 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "B-FABP|BLBP" brain lipid binding protein fatty acid binding protein 7, brain Fatty acid binding protein family 550 1998-01-20 2016-01-20 2023-01-20 2173 ENSG00000164434 OTTHUMG00000015489 uc003pzf.4 D88648 NM_001446 "CCDS5127|CCDS83121" O15540 9375786 MGI:101916 RGD:69312 602965 objectId:2537 HGNC:3562 "ENST00000368444.8|NM_001446.5" HGNC:41951 FABP7P1 fatty acid binding protein 7 pseudogene 1 pseudogene pseudogene Approved 1q44 01q44 fatty acid binding protein 7, brain pseudogene 1 2011-05-20 2016-01-20 2016-01-20 100506953 ENSG00000226766 OTTHUMG00000040017 NG_029764 PGOHUM00000244522 HGNC:41951 HGNC:41952 FABP7P2 fatty acid binding protein 7 pseudogene 2 pseudogene pseudogene Approved 2q11.1 02q11.1 fatty acid binding protein 7, brain pseudogene 2 2011-05-20 2016-01-20 2016-01-20 100874317 ENSG00000235129 OTTHUMG00000155162 NG_032382 PGOHUM00000240200 HGNC:41952 HGNC:3563 FABP9 fatty acid binding protein 9 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "PERF|T-FABP|PERF15" testis fatty acid binding protein Fatty acid binding protein family 550 1998-01-20 2016-01-18 2023-03-15 646480 ENSG00000205186 OTTHUMG00000164601 uc011lfo.3 NM_001080526 Q0Z7S8 7958448 MGI:1194881 RGD:620285 objectId:2538 HGNC:3563 "ENST00000379071.4|NM_001080526.2" @@ -8460,7 +8461,7 @@ HGNC:34524 FABP12 fatty acid binding protein 12 protein-coding gene gene with pr HGNC:45176 FABP12P1 fatty acid binding protein 12 pseudogene 1 pseudogene pseudogene Approved 6q25.1 06q25.1 2013-03-01 2013-03-01 106479057 ENSG00000216265 OTTHUMG00000015780 NG_021386 PGOHUM00000243414 HGNC:45176 HGNC:3573 FADD Fas associated via death domain protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "MORT1|GIG3" "Fas-associating protein with death domain|Fas-associating death domain-containing protein|mediator of receptor-induced toxicity|growth-inhibiting gene 3 protein" Fas (TNFRSF6)-associated via death domain "Death effector domain containing|Ripoptosome|Death inducing signaling complex " "1019|1340|1342" 1999-05-07 2015-11-19 2023-01-20 8772 ENSG00000168040 OTTHUMG00000167264 uc001opm.3 U24231 NM_003824 CCDS8196 Q13158 "7536190|7538907|21109225" MGI:109324 RGD:628700 LRG_228|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_228.xml 602457 311122 HGNC:3573 "ENST00000301838.5|NM_003824.4" HGNC:3573 HGNC:3574 FADS1 fatty acid desaturase 1 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "D5D|FADSD5|TU12|FADS6" "delta-5 desaturase|acyl-CoA (8-3)-desaturase" LLCDL1 "Fatty acid desaturases|MicroRNA protein coding host genes" "553|1691" 1998-07-30 2023-01-20 3992 ENSG00000149485 OTTHUMG00000157155 uc010rlm.3 NM_013402 CCDS8011 O60427 MGI:1923517 RGD:621678 606148 1.14.19.44 HGNC:3574 "ENST00000350997.12|NM_013402.7" -HGNC:3575 FADS2 fatty acid desaturase 2 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "FADSD6|D6D|TU13|DES6|SLL0262" delta-6-desaturase LLCDL2 Fatty acid desaturases 553 1998-07-30 2023-01-20 9415 ENSG00000134824 OTTHUMG00000163794 uc001nsl.3 AF084559 NM_004265 "CCDS60808|CCDS8012|CCDS60807" O95864 MGI:1930079 RGD:68339 606149 1.14.19.3 HGNC:3575 "ENST00000278840.9|NM_004265.4" +HGNC:3575 FADS2 fatty acid desaturase 2 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "FADSD6|D6D|TU13|DES6|SLL0262" delta-6-desaturase LLCDL2 Fatty acid desaturases 553 1998-07-30 2023-01-20 9415 ENSG00000134824 OTTHUMG00000163794 uc001nsl.3 AF084559 NM_004265 "CCDS8012|CCDS60808|CCDS60807" O95864 MGI:1930079 RGD:68339 606149 1.14.19.3 HGNC:3575 "ENST00000278840.9|NM_004265.4" HGNC:43618 FADS2B fatty acid desaturase 2B, pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 FADS2P1 fatty acid desaturase 2 pseudogene 1 2011-12-01 2019-08-02 2019-08-02 2019-08-02 643181 ENSG00000274150 OTTHUMG00000187766 NG_032737 A8MWK0 MGI:2687041 RGD:1311224 PGOHUM00000290970 HGNC:43618 HGNC:3576 FADS3 fatty acid desaturase 3 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 CYB5RP delta-9-desaturase LLCDL3 Fatty acid desaturases 553 1998-07-30 2023-01-20 3995 ENSG00000221968 OTTHUMG00000167500 uc001nsm.5 NM_021727 CCDS8013 Q9Y5Q0 MGI:1928740 RGD:628876 606150 470308 1.14.19.3 HGNC:3576 "ENST00000278829.7|NM_021727.5" HGNC:30459 FADS6 fatty acid desaturase 6 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 fatty acid desaturase domain family, member 6 Fatty acid desaturases 553 2004-12-14 2013-01-25 2023-01-20 283985 ENSG00000172782 OTTHUMG00000179188 uc060jrm.1 AK094411 NM_178128 CCDS54163 Q8N9I5 MGI:3039592 RGD:1311950 HGNC:30459 "ENST00000612771.5|NM_178128.6" @@ -8469,16 +8470,16 @@ HGNC:40228 FAF1-AS1 FAF1 antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:24666 FAF2 Fas associated factor family member 2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "ETEA|KIAA0887|UBXN3B" "expressed in T cells and eosinophils in atopic dermatitis|UBX domain protein 3B" UBXD8 UBX domain containing 8 UBX domain containing 364 2006-01-06 2008-07-25 2008-07-25 2023-01-20 23197 ENSG00000113194 OTTHUMG00000163228 uc003mej.4 BC015791 NM_014613 CCDS34296 Q96CS3 "10048485|12372427" MGI:1923827 RGD:1306577 616935 HGNC:24666 "ENST00000261942.7|NM_014613.3" HGNC:45172 FAF2P1 Fas associated factor family member 2 pseudogene 1 pseudogene pseudogene Approved 10q23.32 10q23.32 2013-03-01 2013-03-01 100128043 ENSG00000228759 OTTHUMG00000018749 NG_022153 PGOHUM00000238582 HGNC:45172 HGNC:3579 FAH fumarylacetoacetate hydrolase protein-coding gene gene with protein product Approved 15q25.1 15q25.1 fumarylacetoacetase 1989-06-07 2016-06-10 2023-01-20 2184 ENSG00000103876 OTTHUMG00000144187 uc021srz.2 M55150 NM_000137 CCDS10314 P16930 "1998338|2336361" MGI:95482 RGD:61932 613871 121686 3.7.1.2 HGNC:3579 "ENST00000561421.6|NM_000137.4" HGNC:3579 -HGNC:14169 FAHD1 fumarylacetoacetate hydrolase domain containing 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 DKFZP566J2046 acylpyruvate hydrolase C16orf36 chromosome 16 open reading frame 36 2000-12-21 2004-08-26 2004-08-19 2023-01-20 81889 ENSG00000180185 OTTHUMG00000128663 uc002cnc.2 BC063017 NM_001018104 "CCDS10448|CCDS32367|CCDS45380" Q6P587 21878618 MGI:1915886 RGD:1304560 616320 3.7.1.5 HGNC:14169 "ENST00000427358.5|NM_031208.4" +HGNC:14169 FAHD1 fumarylacetoacetate hydrolase domain containing 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 DKFZP566J2046 acylpyruvate hydrolase C16orf36 chromosome 16 open reading frame 36 2000-12-21 2004-08-26 2004-08-19 2023-01-20 81889 ENSG00000180185 OTTHUMG00000128663 uc002cnc.2 BC063017 NM_001018104 "CCDS32367|CCDS10448|CCDS45380" Q6P587 21878618 MGI:1915886 RGD:1304560 616320 3.7.1.5 HGNC:14169 "ENST00000427358.5|NM_031208.4" HGNC:24252 FAHD2A fumarylacetoacetate hydrolase domain containing 2A protein-coding gene gene with protein product Approved 2q11.1 02q11.1 CGI-105 2004-08-19 2023-01-20 51011 ENSG00000115042 OTTHUMG00000130397 uc002sut.2 AF151863 NM_016044 CCDS2014 Q96GK7 MGI:1915376 HGNC:24252 "ENST00000233379.9|NM_016044.3" HGNC:25318 FAHD2B fumarylacetoacetate hydrolase domain containing 2B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 DKFZp434N062 2006-11-13 2023-01-20 151313 ENSG00000144199 OTTHUMG00000130533 uc002sxm.4 NM_199336 CCDS2030 Q6P2I3 MGI:1915376 RGD:1563674 HGNC:25318 "ENST00000414820.6|NM_001320848.2" HGNC:44135 FAHD2CP fumarylacetoacetate hydrolase domain containing 2C, pseudogene pseudogene pseudogene Approved 2q11.2 02q11.2 2012-06-23 2016-10-05 729234 ENSG00000231584 OTTHUMG00000155210 NR_003698 PGOHUM00000250467 HGNC:44135 HGNC:32441 FAHD2P1 fumarylacetoacetate hydrolase domain containing 2 pseudogene 1 pseudogene pseudogene Approved 12q15 12q15 FAHD2P fumarylacetoacetate hydrolase domain containing 2 pseudogene 2006-01-05 2011-10-07 2011-10-07 2011-10-07 729610 ENSG00000257302 OTTHUMG00000169503 AC083809 NG_006649 PGOHUM00000239850 HGNC:32441 -HGNC:18703 FAIM Fas apoptotic inhibitory molecule protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "FLJ10582|FAIM1" 2002-05-29 2023-01-20 55179 ENSG00000158234 OTTHUMG00000159885 uc003esr.4 AK001444 NM_001033032 "CCDS33865|CCDS33864|CCDS3103" Q9NVQ4 10075978 MGI:1344387 RGD:620572 617535 HGNC:18703 "ENST00000360570.8|NM_001033031.2" +HGNC:18703 FAIM Fas apoptotic inhibitory molecule protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "FLJ10582|FAIM1" 2002-05-29 2023-01-20 55179 ENSG00000158234 OTTHUMG00000159885 uc003esr.4 AK001444 NM_001033032 "CCDS3103|CCDS33864|CCDS33865" Q9NVQ4 10075978 MGI:1344387 RGD:620572 617535 HGNC:18703 "ENST00000360570.8|NM_001033031.2" HGNC:17067 FAIM2 Fas apoptotic inhibitory molecule 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "KIAA0950|LFG|NMP35|LIFEGUARD|TMBIM2|LFG2" transmembrane BAX inhibitor motif containing 2 Transmembrane BAX inhibitor motif containing 1215 2002-10-08 2023-01-20 23017 ENSG00000135472 OTTHUMG00000169808 uc001rvj.3 AB023167 NM_012306 CCDS8791 Q9BWQ8 "10231032|10535980" MGI:1919643 RGD:628744 604306 HGNC:17067 "ENST00000320634.8|NM_012306.4" HGNC:43713 FALEC focally amplified long non-coding RNA in epithelial cancer non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 "ncRNA-a1|FAL1" focally amplified lncRNA on chromosome 1 LINC00568 long intergenic non-protein coding RNA 568 Long non-coding RNAs with non-systematic symbols 1992 2012-02-02 2014-09-17 2014-09-17 2018-07-25 100874054 ENSG00000228126 OTTHUMG00000035849 AL713297 NR_051960 "20887892|25203321|29196104" 616092 LINC00568 FALEC HGNC:43713 -HGNC:13749 FAM3A FAM3 metabolism regulating signaling molecule A protein-coding gene gene with protein product Approved Xq28 Xq28 "DXS560S|2-19|XAP-7" family with sequence similarity 3 member A 2002-06-18 2019-09-20 2023-01-20 60343 ENSG00000071889 OTTHUMG00000013418 uc004flw.4 X74610 NM_001171132 "CCDS76060|CCDS87800|CCDS55542|CCDS55543|CCDS35453" P98173 "27688071|26939760|26492522" MGI:1913544 RGD:1562076 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM3A 300492 HGNC:13749 "ENST00000447601.7|NM_021806.4" -HGNC:1253 FAM3B FAM3 metabolism regulating signaling molecule B protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "D21M16SJHU19e|PRED44|2-21|ORF9|C21orf76|PANDER" pancreatic-derived factor C21orf11 "chromosome 21 open reading frame 11|family with sequence similarity 3 member B" 2000-05-23 2002-06-20 2019-09-20 2023-01-20 54097 ENSG00000183844 OTTHUMG00000086752 uc002yzb.2 AF494379 NM_058186 "CCDS13671|CCDS42930" P58499 MGI:1270150 RGD:1311662 608617 HGNC:1253 "ENST00000357985.7|NM_058186.4" +HGNC:13749 FAM3A FAM3 metabolism regulating signaling molecule A protein-coding gene gene with protein product Approved Xq28 Xq28 "DXS560S|2-19|XAP-7" family with sequence similarity 3 member A 2002-06-18 2019-09-20 2023-01-20 60343 ENSG00000071889 OTTHUMG00000013418 uc004flw.4 X74610 NM_001171132 "CCDS55543|CCDS35453|CCDS76060|CCDS55542|CCDS87800" P98173 "27688071|26939760|26492522" MGI:1913544 RGD:1562076 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM3A 300492 HGNC:13749 "ENST00000447601.7|NM_021806.4" +HGNC:1253 FAM3B FAM3 metabolism regulating signaling molecule B protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "D21M16SJHU19e|PRED44|2-21|ORF9|C21orf76|PANDER" pancreatic-derived factor C21orf11 "chromosome 21 open reading frame 11|family with sequence similarity 3 member B" 2000-05-23 2002-06-20 2019-09-20 2023-01-20 54097 ENSG00000183844 OTTHUMG00000086752 uc002yzb.2 AF494379 NM_058186 "CCDS42930|CCDS13671" P58499 MGI:1270150 RGD:1311662 608617 HGNC:1253 "ENST00000357985.7|NM_058186.4" HGNC:18664 FAM3C FAM3 metabolism regulating signaling molecule C protein-coding gene gene with protein product Approved 7q31.31 07q31.31 "GS3876|ILEI" "predicted osteoblast protein|interleukin-like EMT inducer|interleukin-like epithelial-mesenchymal transition inducer" family with sequence similarity 3 member C 2002-06-18 2019-09-20 2023-01-20 10447 ENSG00000196937 OTTHUMG00000156979 uc003vjx.4 D87120 NM_001040020 CCDS5782 Q92520 12160727 MGI:107892 RGD:735193 608618 HGNC:18664 "ENST00000359943.8|NM_014888.3" HGNC:34501 FAM3C2P family with sequence similarity 3 member C2, pseudogene pseudogene pseudogene Approved Xp22.11 Xp22.11 FAM3C2 "family with sequence similarity 3, member C2 (pseudogene)|family with sequence similarity 3 member C2 (pseudogene)" 2008-08-05 2020-04-20 2020-04-20 2020-04-20 286460 ENSG00000174028 OTTHUMG00000021247 NG_002950 HGNC:34501 HGNC:18665 FAM3D FAM3 metabolism regulating signaling molecule D protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "EF7|OIT1" Oncoprotein-induced transcript 1 family with sequence similarity 3 member D 2002-06-18 2019-09-20 2023-01-20 131177 ENSG00000198643 OTTHUMG00000159148 uc003dkq.4 AF494381 NM_138805 CCDS2893 Q96BQ1 "12160727|26966188" MGI:1201784 RGD:1305512 608619 HGNC:18665 "ENST00000358781.7|NM_138805.3" @@ -8496,11 +8497,11 @@ HGNC:18403 FAM9A family with sequence similarity 9 member A protein-coding gene HGNC:18404 FAM9B family with sequence similarity 9 member B protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 TEX39B testis expressed 39B family with sequence similarity 9, member B 2002-03-25 2015-11-18 2023-01-20 171483 ENSG00000177138 OTTHUMG00000021114 uc064xxo.1 NM_205849 CCDS14132 Q8IZU0 "12213195|21085121|21998597|22936694" 300478 HGNC:18404 "ENST00000327220.10|NM_205849.3" HGNC:18405 FAM9C family with sequence similarity 9 member C protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 TEX39C testis expressed 39C family with sequence similarity 9, member C 2002-03-25 2015-11-18 2023-01-20 171484 ENSG00000187268 OTTHUMG00000021143 uc004cvh.3 NM_174901 CCDS35203 Q8IZT9 23836295 RGD:1559891 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM9C 300479 HGNC:18405 "ENST00000380625.8|NM_174901.6" HGNC:55923 FAM9CP1 FAM9C pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 2021-10-15 2021-10-15 123464508 ENSG00000275194 -HGNC:19367 FAM13A family with sequence similarity 13 member A protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "KIAA0914|ARHGAP48" FAM13A1 "family with sequence similarity 13, member A1|family with sequence similarity 13, member A" Rho GTPase activating proteins 721 2002-11-15 2009-01-20 2015-11-18 2023-05-19 10144 ENSG00000138640 OTTHUMG00000161006 uc003hse.3 AB020721 NM_001015045 "CCDS58913|CCDS43251|CCDS58912|CCDS58911|CCDS34029" O94988 "25609086|26862784|32151973" MGI:1889842 RGD:1309807 613299 353231 HGNC:19367 "ENST00000264344.10|NM_014883.4" +HGNC:19367 FAM13A family with sequence similarity 13 member A protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "KIAA0914|ARHGAP48" FAM13A1 "family with sequence similarity 13, member A1|family with sequence similarity 13, member A" Rho GTPase activating proteins 721 2002-11-15 2009-01-20 2015-11-18 2023-05-19 10144 ENSG00000138640 OTTHUMG00000161006 uc003hse.3 AB020721 NM_001015045 "CCDS34029|CCDS58913|CCDS43251|CCDS58912|CCDS58911" O94988 "25609086|26862784|32151973" MGI:1889842 RGD:1309807 613299 353231 HGNC:19367 "ENST00000264344.10|NM_014883.4" HGNC:19370 FAM13A-AS1 FAM13A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q22.1 04q22.1 NCRNA00039 non-protein coding RNA 39 "FAM13A1OS|FAM13AOS" "FAM13A opposite strand (non-protein coding)|FAM13A antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2002-11-15 2011-08-19 2012-08-15 2012-10-12 285512 ENSG00000248019 OTTHUMG00000161035 uc003hry.1 AK126217 NR_002806 15234000 613300 FAM13A-AS1 HGNC:19370 -HGNC:1335 FAM13B family with sequence similarity 13 member B protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "N61|KHCHP|ARHGAP49" "C5orf5|FAM13B1" "chromosome 5 open reading frame 5|family with sequence similarity 13, member B1|family with sequence similarity 13, member B" Rho GTPase activating proteins 721 2000-07-21 2009-01-20 2015-11-18 2023-01-20 51306 ENSG00000031003 OTTHUMG00000129202 uc003lbz.3 AF251038 NM_001101800 "CCDS47270|CCDS47269|CCDS93788|CCDS4195" Q9NYF5 "11087669|11161817" MGI:2447834 RGD:1310484 609371 HGNC:1335 "ENST00000689681.1|NM_001385994.1" +HGNC:1335 FAM13B family with sequence similarity 13 member B protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "N61|KHCHP|ARHGAP49" "C5orf5|FAM13B1" "chromosome 5 open reading frame 5|family with sequence similarity 13, member B1|family with sequence similarity 13, member B" Rho GTPase activating proteins 721 2000-07-21 2009-01-20 2015-11-18 2023-01-20 51306 ENSG00000031003 OTTHUMG00000129202 uc003lbz.3 AF251038 NM_001101800 "CCDS4195|CCDS47270|CCDS93788|CCDS47269" Q9NYF5 "11087669|11161817" MGI:2447834 RGD:1310484 609371 HGNC:1335 "ENST00000689681.1|NM_001385994.1" HGNC:55597 FAM13B-AS1 FAM13B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 Antisense RNAs 1987 2021-04-30 2021-04-30 100130172 ENSG00000246323 NR_037900 -HGNC:19371 FAM13C family with sequence similarity 13 member C protein-coding gene gene with protein product Approved 10q21.1 10q21.1 FAM13C1 "family with sequence similarity 13, member C1|family with sequence similarity 13, member C" 2002-11-15 2009-01-20 2015-11-18 2023-01-20 220965 ENSG00000148541 OTTHUMG00000018277 uc031wie.2 U79304 NM_001001971 "CCDS86096|CCDS44406|CCDS53538|CCDS7255|CCDS31207" Q8NE31 MGI:1918971 RGD:1310149 HGNC:19371 "ENST00000618804.5|NM_198215.4" +HGNC:19371 FAM13C family with sequence similarity 13 member C protein-coding gene gene with protein product Approved 10q21.1 10q21.1 FAM13C1 "family with sequence similarity 13, member C1|family with sequence similarity 13, member C" 2002-11-15 2009-01-20 2015-11-18 2023-01-20 220965 ENSG00000148541 OTTHUMG00000018277 uc031wie.2 U79304 NM_001001971 "CCDS53538|CCDS86096|CCDS31207|CCDS7255|CCDS44406" Q8NE31 MGI:1918971 RGD:1310149 HGNC:19371 "ENST00000618804.5|NM_198215.4" HGNC:23015 FAM20A FAM20A golgi associated secretory pathway pseudokinase protein-coding gene gene with protein product Approved 17q24.2 17q24.2 DKFZp434F2322 "family with sequence similarity 20, member A|FAM20A, golgi associated secretory pathway pseudokinase" Golgi associated kinase family 1637 2003-09-03 2019-01-25 2023-01-20 54757 ENSG00000108950 OTTHUMG00000180152 uc002jho.4 AK056789 NM_017565 CCDS11679 Q96MK3 MGI:2388266 RGD:1306364 611062 269646 HGNC:23015 "ENST00000592554.2|NM_017565.4" HGNC:23015 HGNC:23017 FAM20B FAM20B glycosaminoglycan xylosylkinase protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "KIAA0475|GXK1" "family with sequence similarity 20, member B|FAM20B, glycosaminoglycan xylosylkinase" Golgi associated kinase family 1637 2003-09-03 2019-01-25 2023-01-20 9917 ENSG00000116199 OTTHUMG00000035073 uc001gmc.4 AB007944 NM_014864 CCDS1328 O75063 "9455484|19473117" MGI:2443990 RGD:1311162 611063 2.7.1.- HGNC:23017 "ENST00000263733.5|NM_014864.4" HGNC:23017 HGNC:56575 FAM20BP1 FAM20B pseudogene 1 pseudogene pseudogene Approved 3q26.2 03q26.2 2022-11-03 2022-11-03 100421510 ENSG00000244039 NG_025766 PGOHUM00000299664 @@ -8538,7 +8539,7 @@ HGNC:29962 FAM47A family with sequence similarity 47 member A protein-coding gen HGNC:26659 FAM47B family with sequence similarity 47 member B protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 FLJ35782 family with sequence similarity 47, member B 2004-08-09 2015-11-18 2023-01-20 170062 ENSG00000189132 OTTHUMG00000021345 uc004ddi.3 BC035026 NM_152631 CCDS14236 Q8NA70 14702039 MGI:1918114 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM47B HGNC:26659 "ENST00000329357.6|NM_152631.3" HGNC:25301 FAM47C family with sequence similarity 47 member C protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 family with sequence similarity 47, member C 2006-07-04 2015-11-18 2023-01-20 442444 ENSG00000198173 OTTHUMG00000024025 uc004ddl.3 AK125992 NM_001013736 CCDS35227 Q5HY64 30922974 MGI:1918114 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM47C 301067 HGNC:25301 "ENST00000358047.5|NM_001013736.3" HGNC:25301 HGNC:34342 FAM47DP family with sequence similarity 47 member D, pseudogene pseudogene pseudogene Approved Xp21.1 Xp21.1 family with sequence similarity 47, member D, pseudogene 2008-07-02 2015-11-18 2016-09-30 139249 ENSG00000174678 OTTHUMG00000033174 AL627244 NG_008058 A6NHR8 MGI:1918114 PGOHUM00000241236 HGNC:34342 -HGNC:34343 FAM47E family with sequence similarity 47 member E protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "FLJ42946|LOC100129583" similar to genethonin 1 family with sequence similarity 47, member E 2008-07-02 2015-11-18 2023-01-20 100129583 ENSG00000189157 OTTHUMG00000185390 uc003hjx.4 "AC034139|AK124936|CR591456|CR627383" NM_001136570 "CCDS47081|CCDS58907" Q6ZV65 33376131 MGI:2686227 RGD:1585459 HGNC:34343 "ENST00000424749.7|NM_001136570.3" +HGNC:34343 FAM47E family with sequence similarity 47 member E protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "FLJ42946|LOC100129583" similar to genethonin 1 family with sequence similarity 47, member E 2008-07-02 2015-11-18 2023-01-20 100129583 ENSG00000189157 OTTHUMG00000185390 uc003hjx.4 "AC034139|AK124936|CR591456|CR627383" NM_001136570 "CCDS58907|CCDS47081" Q6ZV65 33376131 MGI:2686227 RGD:1585459 HGNC:34343 "ENST00000424749.7|NM_001136570.3" HGNC:44667 FAM47E-STBD1 FAM47E-STBD1 readthrough other readthrough Approved 4q21.1 04q21.1 2013-04-23 2023-03-15 100631383 ENSG00000272414 OTTHUMG00000160966 uc003hjy.4 NM_001242939 MGI:2686227 HGNC:44667 HGNC:18786 FAM50A family with sequence similarity 50 member A protein-coding gene gene with protein product Approved Xq28 Xq28 "DXS9928E|XAP5|HXC-26|9F" DNA segment on chromosome X (unique) 9928 expressed sequence family with sequence similarity 50, member A "Spliceosomal C complex|Spliceosomal P complex|MicroRNA protein coding host genes" "1510|1516|1691" 2004-10-06 2015-11-18 2023-01-20 9130 ENSG00000071859 OTTHUMG00000033292 uc004fll.4 BC000028 NM_004699 CCDS14751 Q14320 "28574578|32703943|33498634" MGI:1351626 RGD:1560964 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM50A 300453 HGNC:18786 "ENST00000393600.8|NM_004699.4" HGNC:18786 HGNC:18789 FAM50B family with sequence similarity 50 member B protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "D6S2654E|X5L" XAP5 like family with sequence similarity 50, member B 2004-10-06 2015-11-18 2023-01-20 26240 ENSG00000145945 OTTHUMG00000014147 uc063lni.1 Y18504 NM_012135 CCDS4487 Q9Y247 10534398 MGI:1351640 RGD:1563458 LRG_1062|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1062.xml 614686 HGNC:18789 "ENST00000648326.1|NM_012135.3" @@ -8551,24 +8552,24 @@ HGNC:28890 FAM66B family with sequence similarity 66 member B non-coding RNA RNA HGNC:21644 FAM66C family with sequence similarity 66 member C non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 family with sequence similarity 66, member C Long non-coding RNAs with FAM root symbol 1993 2005-04-28 2015-11-18 2016-09-30 440078 ENSG00000226711 OTTHUMG00000168638 uc058kvt.1 NR_026788 FAM66C HGNC:21644 HGNC:24159 FAM66D family with sequence similarity 66 member D non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 family with sequence similarity 66, member D Long non-coding RNAs with FAM root symbol 1993 2005-04-28 2015-11-18 2016-09-30 100132923 ENSG00000255052 OTTHUMG00000165269 uc064kis.1 NR_027425 HGNC:24159 HGNC:18735 FAM66E family with sequence similarity 66 member E non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 family with sequence similarity 66, member E Long non-coding RNAs with FAM root symbol 1993 2005-04-28 2015-11-18 2016-09-30 100132103 ENSG00000225725 OTTHUMG00000165403 uc011kws.2 NR_027424 P0C841 FAM66E HGNC:18735 -HGNC:24044 FAM72A family with sequence similarity 72 member A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "MGC57827|RP11-312O7.1|UGENE|LMPIP|p17" LMP1-induced protein family with sequence similarity 72, member A 2005-06-03 2015-11-18 2023-01-20 729533 ENSG00000196550 OTTHUMG00000042552 uc001hdr.5 CR407567 NM_001123168 "CCDS73016|CCDS81420|CCDS91153" Q5TYM5 "26206078|21317926|18676834|30685845" MGI:1919669 RGD:1598023 614710 HGNC:24044 "ENST00000367128.8|NM_001123168.3" +HGNC:24044 FAM72A family with sequence similarity 72 member A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "MGC57827|RP11-312O7.1|UGENE|LMPIP|p17" LMP1-induced protein family with sequence similarity 72, member A 2005-06-03 2015-11-18 2023-01-20 729533 ENSG00000196550 OTTHUMG00000042552 uc001hdr.5 CR407567 NM_001123168 "CCDS73016|CCDS91153|CCDS81420" Q5TYM5 "26206078|21317926|18676834|30685845" MGI:1919669 RGD:1598023 614710 HGNC:24044 "ENST00000367128.8|NM_001123168.3" HGNC:24805 FAM72B family with sequence similarity 72 member B protein-coding gene gene with protein product Approved 1p11.2 01p11.2 RP11-439A17.6 family with sequence similarity 72, member B 2005-06-03 2015-11-18 2023-01-20 653820 ENSG00000188610 OTTHUMG00000185025 uc031upy.2 AL357493 NM_001100910 "CCDS72848|CCDS81362" Q86X60 "26206078|19755123" MGI:1919669 614711 HGNC:24805 "ENST00000369390.7|NM_001100910.2" -HGNC:30602 FAM72C family with sequence similarity 72 member C protein-coding gene gene with protein product Approved 1q21.1 01q21.1 RP5-998N21.9 family with sequence similarity 72, member C 2005-06-03 2015-11-18 2023-01-20 554282 ENSG00000263513 OTTHUMG00000041029 uc031uqs.2 AL109948 NM_001287385 "CCDS72850|CCDS86008" H0Y354 26206078 MGI:1919669 616853 HGNC:30602 "ENST00000584486.6|NM_001287385.2" +HGNC:30602 FAM72C family with sequence similarity 72 member C protein-coding gene gene with protein product Approved 1q21.1 01q21.1 RP5-998N21.9 family with sequence similarity 72, member C 2005-06-03 2015-11-18 2023-01-20 554282 ENSG00000263513 OTTHUMG00000041029 uc031uqs.2 AL109948 NM_001287385 "CCDS86008|CCDS72850" H0Y354 26206078 MGI:1919669 616853 HGNC:30602 "ENST00000584486.6|NM_001287385.2" HGNC:33593 FAM72D family with sequence similarity 72 member D protein-coding gene gene with protein product Approved 1q21.1 01q21.1 family with sequence similarity 72, member D 2007-08-09 2015-11-18 2023-01-20 728833 ENSG00000215784 OTTHUMG00000074801 uc031ury.2 CR589924 NM_207418 CCDS72855 Q6L9T8 26206078 MGI:1919669 614712 HGNC:33593 "ENST00000400889.3|NM_207418.3" HGNC:32029 FAM74A1 family with sequence similarity 74 member A1 non-coding RNA RNA, long non-coding Approved 9p12 09p12 FAM74A5 "family with sequence similarity 74, member A5|family with sequence similarity 74, member A1" Long non-coding RNAs with FAM root symbol 1993 2006-06-30 2015-11-18 2016-09-30 401507 ENSG00000215112 OTTHUMG00000067121 uc033crc.2 NR_026803 Q5RGS3 FAM74A1 HGNC:32029 HGNC:32031 FAM74A3 family with sequence similarity 74 member A3 non-coding RNA RNA, long non-coding Approved 9q21.11 09q21.11 OTTHUMG00000067149 family with sequence similarity 74, member A3 Long non-coding RNAs with FAM root symbol 1993 2006-06-30 2015-11-18 2023-03-15 728495 ENSG00000274355 OTTHUMG00000188258 NR_026801 Q4VXF1 FAM74A3 HGNC:32031 HGNC:32032 FAM74A4 family with sequence similarity 74 member A4 non-coding RNA RNA, long non-coding Approved 9q12 09q12 FLJ45202 FAM74A2 "family with sequence similarity 74, member A4|family with sequence similarity 74 member A2|family with sequence similarity 74, member A2" Long non-coding RNAs with FAM root symbol 1993 2006-06-30 2015-11-18 2023-03-15 401508 ENSG00000274583 OTTHUMG00000188539 NR_026802 Q5TZK3 FAM74A4 HGNC:32032 HGNC:34036 FAM74A6 family with sequence similarity 74 member A6 non-coding RNA RNA, long non-coding Approved 9q12 09q12 family with sequence similarity 74, member A6 Long non-coding RNAs with FAM root symbol 1993 2008-03-28 2015-11-18 2016-09-30 653123 ENSG00000274516 OTTHUMG00000188291 uc004abw.2 NG_009678.1 Q5TZK3 FAM74A6 HGNC:34036 HGNC:34037 FAM74A7 family with sequence similarity 74 member A7 non-coding RNA RNA, long non-coding Approved 9p11.2-p11.1 09p11.2-p11.1 "family with sequence similarity 74, member A7, pseudogene|family with sequence similarity 74, member A7" Long non-coding RNAs with FAM root symbol 1993 2008-03-28 2015-11-18 2020-04-20 100996582 ENSG00000277260 OTTHUMG00000187514 uc064tia.1 XR_078406 A6NL05 HGNC:34037 -HGNC:28530 FAM76A family with sequence similarity 76 member A protein-coding gene gene with protein product Approved 1p35.3 01p35.3 MGC34648 family with sequence similarity 76, member A 2005-08-15 2015-11-18 2023-01-20 199870 ENSG00000009780 OTTHUMG00000003729 uc001boq.4 AK098318 NM_152660 "CCDS44092|CCDS309|CCDS44093|CCDS44094|CCDS44095" Q8TAV0 MGI:2385211 RGD:1305162 HGNC:28530 "ENST00000373954.11|NM_152660.3" +HGNC:28530 FAM76A family with sequence similarity 76 member A protein-coding gene gene with protein product Approved 1p35.3 01p35.3 MGC34648 family with sequence similarity 76, member A 2005-08-15 2015-11-18 2023-01-20 199870 ENSG00000009780 OTTHUMG00000003729 uc001boq.4 AK098318 NM_152660 "CCDS44095|CCDS44094|CCDS44092|CCDS44093|CCDS309" Q8TAV0 MGI:2385211 RGD:1305162 HGNC:28530 "ENST00000373954.11|NM_152660.3" HGNC:56528 FAM76AP1 FAM76A pseudogene 1 pseudogene pseudogene Approved 3q22.1 03q22.1 2022-10-28 2022-10-28 127460885 ENSG00000250983 NG_148544 PGOHUM00000299183 -HGNC:28492 FAM76B family with sequence similarity 76 member B protein-coding gene gene with protein product Approved 11q21 11q21 MGC33371 family with sequence similarity 76, member B 2005-08-15 2015-11-18 2023-01-20 143684 ENSG00000077458 OTTHUMG00000167739 uc001pfn.3 NM_144664 "CCDS81619|CCDS41700" Q5HYJ3 27018871 MGI:1920076 RGD:1311077 HGNC:28492 "ENST00000358780.10|NM_144664.5" -HGNC:25465 FAM78A family with sequence similarity 78 member A protein-coding gene gene with protein product Approved 9q34.13 09q34.13 FLJ00024 C9orf59 "chromosome 9 open reading frame 59|family with sequence similarity 78, member A" 2004-01-06 2005-07-18 2015-11-18 2023-01-20 286336 ENSG00000126882 OTTHUMG00000020821 uc004cak.4 AK095423 NM_033387 "CCDS94514|CCDS6941" Q5JUQ0 11214971 MGI:2443569 RGD:1566351 HGNC:25465 "ENST00000372271.4|NM_033387.4" +HGNC:28492 FAM76B family with sequence similarity 76 member B protein-coding gene gene with protein product Approved 11q21 11q21 MGC33371 family with sequence similarity 76, member B 2005-08-15 2015-11-18 2023-01-20 143684 ENSG00000077458 OTTHUMG00000167739 uc001pfn.3 NM_144664 "CCDS41700|CCDS81619" Q5HYJ3 27018871 MGI:1920076 RGD:1311077 HGNC:28492 "ENST00000358780.10|NM_144664.5" +HGNC:25465 FAM78A family with sequence similarity 78 member A protein-coding gene gene with protein product Approved 9q34.13 09q34.13 FLJ00024 C9orf59 "chromosome 9 open reading frame 59|family with sequence similarity 78, member A" 2004-01-06 2005-07-18 2015-11-18 2023-01-20 286336 ENSG00000126882 OTTHUMG00000020821 uc004cak.4 AK095423 NM_033387 "CCDS6941|CCDS94514" Q5JUQ0 11214971 MGI:2443569 RGD:1566351 HGNC:25465 "ENST00000372271.4|NM_033387.4" HGNC:13495 FAM78B family with sequence similarity 78 member B protein-coding gene gene with protein product Approved 1q24.1 01q24.1 family with sequence similarity 78, member B MicroRNA protein coding host genes 1691 2005-07-18 2015-11-18 2023-01-20 149297 ENSG00000188859 OTTHUMG00000034705 uc057mzx.1 AL626787 NM_001017961 CCDS30931 Q5VT40 MGI:2443050 RGD:1564387 HGNC:13495 "ENST00000354422.4|NM_001017961.5" HGNC:40639 FAM78B-AS1 FAM78B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q24.1 01q24.1 Antisense RNAs 1987 2019-07-25 2019-07-25 105371586 ENSG00000203307 OTTHUMG00000156135 NR_184316 HGNC:40639 HGNC:28379 FAM81A family with sequence similarity 81 member A protein-coding gene gene with protein product Approved 15q22.2 15q22.2 MGC26690 family with sequence similarity 81, member A 2005-10-21 2015-11-18 2023-01-20 145773 ENSG00000157470 OTTHUMG00000171915 uc002agc.3 NM_152450 CCDS45269 Q8TBF8 30735723 MGI:1924136 RGD:1311958 HGNC:28379 "ENST00000288228.10|NM_152450.3" HGNC:26335 FAM81B family with sequence similarity 81 member B protein-coding gene gene with protein product Approved 5q15 05q15 FLJ25333 family with sequence similarity 81, member B 2005-07-25 2015-11-18 2023-01-20 153643 ENSG00000153347 OTTHUMG00000162837 uc003kla.2 NM_152548 CCDS43341 Q96LP2 MGI:2685122 RGD:1561830 HGNC:26335 "ENST00000283357.10|NM_152548.3" -HGNC:28210 FAM83A family with sequence similarity 83 member A protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MGC14128|BJ-TSA-9" family with sequence similarity 83, member A Family with sequence similarity 83 1814 2005-07-27 2015-11-18 2023-01-20 84985 ENSG00000147689 OTTHUMG00000165083 uc003ypv.5 BC052300 NM_032899 "CCDS6339|CCDS75784|CCDS6340" Q86UY5 22886303 MGI:2447773 RGD:1565606 HGNC:28210 "ENST00000690554.1|NM_001394396.1" +HGNC:28210 FAM83A family with sequence similarity 83 member A protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MGC14128|BJ-TSA-9" family with sequence similarity 83, member A Family with sequence similarity 83 1814 2005-07-27 2015-11-18 2023-01-20 84985 ENSG00000147689 OTTHUMG00000165083 uc003ypv.5 BC052300 NM_032899 "CCDS75784|CCDS6340|CCDS6339" Q86UY5 22886303 MGI:2447773 RGD:1565606 HGNC:28210 "ENST00000690554.1|NM_001394396.1" HGNC:48658 FAM83A-AS1 FAM83A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 HCCC11 Antisense RNAs 1987 2013-06-03 2013-06-03 100131726 ENSG00000204949 OTTHUMG00000165086 AY211907 NR_024479 FAM83A-AS1 HGNC:48658 HGNC:56225 FAM83A-AS2 FAM83A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 AC068228.1 Antisense RNAs 1987 2022-04-13 2022-04-13 2022-04-13 2022-04-13 125177378 ENSG00000253258 35280807 HGNC:21357 FAM83B family with sequence similarity 83 member B protein-coding gene gene with protein product Approved 6p12.1 06p12.1 FLJ30642 C6orf143 "chromosome 6 open reading frame 143|family with sequence similarity 83, member B" Family with sequence similarity 83 1814 2003-06-09 2006-03-23 2015-11-18 2023-01-20 222584 ENSG00000168143 OTTHUMG00000014899 uc003pck.5 AK055204 NM_001010872 CCDS34479 Q5T0W9 22886302 MGI:2685362 RGD:1311988 HGNC:21357 "ENST00000306858.8|NM_001010872.3" @@ -8604,7 +8605,7 @@ HGNC:56160 FAM88D family with sequence similarity 88 member D non-coding RNA RNA HGNC:56161 FAM88E family with sequence similarity 88 member E non-coding RNA RNA, long non-coding Approved 9p11.1 09p11.1 Long non-coding RNAs with FAM root symbol 1993 2022-01-13 2022-01-13 103908605 ENSG00000237357 NR_126050 HGNC:56162 FAM88F family with sequence similarity 88 member F non-coding RNA RNA, long non-coding Approved 9q13 09q13 Long non-coding RNAs with FAM root symbol 1993 2022-01-13 2022-01-13 103908604 ENSG00000226007 NR_147619 HGNC:25057 FAM89A family with sequence similarity 89 member A protein-coding gene gene with protein product Approved 1q42.2 01q42.2 MGC15887 C1orf153 "chromosome 1 open reading frame 153|family with sequence similarity 89, member A" MicroRNA protein coding host genes 1691 2005-07-14 2005-09-13 2015-11-18 2023-01-20 375061 ENSG00000182118 OTTHUMG00000037960 uc001hui.3 BC009447 NM_198552 CCDS1590 Q96GI7 12477932 MGI:1916877 RGD:1309879 HGNC:25057 "ENST00000366654.5|NM_198552.3" -HGNC:16708 FAM89B family with sequence similarity 89 member B protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "MTVR1|LRAP25" "Mammary Tumor Virus Receptor Homolog 1|leucine repeat adaptor protein 25" family with sequence similarity 89, member B 2005-09-13 2015-11-18 2023-01-20 23625 ENSG00000176973 OTTHUMG00000166499 uc001oem.2 AF052151 NM_152832 "CCDS53662|CCDS8105|CCDS44648" Q8N5H3 "9525630|10512749|25107909" MGI:106595 RGD:1311544 616128 HGNC:16708 "ENST00000530349.2|NM_001098785.2" +HGNC:16708 FAM89B family with sequence similarity 89 member B protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "MTVR1|LRAP25" "Mammary Tumor Virus Receptor Homolog 1|leucine repeat adaptor protein 25" family with sequence similarity 89, member B 2005-09-13 2015-11-18 2023-01-20 23625 ENSG00000176973 OTTHUMG00000166499 uc001oem.2 AF052151 NM_152832 "CCDS44648|CCDS8105|CCDS53662" Q8N5H3 "9525630|10512749|25107909" MGI:106595 RGD:1311544 616128 HGNC:16708 "ENST00000530349.2|NM_001098785.2" HGNC:25526 FAM90A1 family with sequence similarity 90 member A1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 FLJ10408 family with sequence similarity 90, member A1 2005-09-27 2005-11-20 2015-11-18 2023-01-20 55138 ENSG00000171847 OTTHUMG00000168641 uc001qui.3 AK001270 NM_018088 CCDS31738 Q86YD7 MGI:1921682 RGD:2318111 613041 HGNC:25526 "ENST00000538603.6|NM_018088.3" HGNC:32250 FAM90A2P family with sequence similarity 90 member A2, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 family with sequence similarity 90, member A2, pseudogene 2005-09-27 2005-11-20 2015-11-18 2016-09-30 729689 ENSG00000205879 OTTHUMG00000165297 NR_046354 Q658T7 "MGI:1921682|MGI:2142877" PGOHUM00000258332 HGNC:32250 HGNC:32251 FAM90A3P family with sequence similarity 90 member A3, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 FAM90A3 "family with sequence similarity 90, member A3|family with sequence similarity 90, member A3, pseudogene" 2005-10-04 2012-02-21 2015-11-18 2016-11-09 389611 ENSG00000233132 OTTHUMG00000160359 NG_032074 613042 PGOHUM00000303414 HGNC:32251 @@ -8640,18 +8641,18 @@ HGNC:51524 FAM91A4P family with sequence similarity 91 member A4, pseudogene pse HGNC:28069 FAM95A family with sequence similarity 95 member A non-coding RNA RNA, long non-coding Approved 2q11.1 02q11.1 DKFZp434H0923 family with sequence similarity 95, member A Long non-coding RNAs with FAM root symbol 1993 2013-03-15 2015-11-18 2016-09-30 90499 ENSG00000289811 AL137712 NR_038409 FAM95A HGNC:28069 HGNC:32318 FAM95B1 family with sequence similarity 95 member B1 non-coding RNA RNA, long non-coding Approved 9p11.2 09p11.2 DKFZp686P0734 family with sequence similarity 95, member B1 Long non-coding RNAs with FAM root symbol 1993 2008-05-02 2015-11-18 2016-09-30 100133036 ENSG00000223839 OTTHUMG00000058623 uc004acg.4 AL833349 NR_026759 FAM95B1 HGNC:32318 HGNC:45272 FAM95C family with sequence similarity 95 member C non-coding RNA RNA, long non-coding Approved 9p13.1 09p13.1 family with sequence similarity 95, member C Long non-coding RNAs with FAM root symbol 1993 2013-03-15 2015-11-18 2016-09-30 100289137 OTTHUMG00000186350 uc064tdx.1 NR_047651 RGD:9147085 FAM95C HGNC:45272 -HGNC:24520 FAM98A family with sequence similarity 98 member A protein-coding gene gene with protein product Approved 2p22.3 02p22.3 DKFZP564F0522 family with sequence similarity 98, member A tRNA splicing ligase complex 1345 2005-11-03 2005-11-20 2015-11-18 2023-01-20 25940 ENSG00000119812 OTTHUMG00000152152 uc002rpa.2 NM_015475 "CCDS33179|CCDS92735" Q8NCA5 24257188 MGI:1919972 RGD:1305486 HGNC:24520 "ENST00000238823.13|NM_015475.5" +HGNC:24520 FAM98A family with sequence similarity 98 member A protein-coding gene gene with protein product Approved 2p22.3 02p22.3 DKFZP564F0522 family with sequence similarity 98, member A tRNA splicing ligase complex 1345 2005-11-03 2005-11-20 2015-11-18 2023-01-20 25940 ENSG00000119812 OTTHUMG00000152152 uc002rpa.2 NM_015475 "CCDS92735|CCDS33179" Q8NCA5 24257188 MGI:1919972 RGD:1305486 HGNC:24520 "ENST00000238823.13|NM_015475.5" HGNC:26773 FAM98B family with sequence similarity 98 member B protein-coding gene gene with protein product Approved 15q14 15q14 FLJ38426 family with sequence similarity 98, member B tRNA splicing ligase complex 1345 2005-11-03 2005-11-20 2015-11-18 2023-03-15 283742 ENSG00000171262 OTTHUMG00000129831 uc001zkc.4 NM_173611 CCDS10047 Q52LJ0 24608264 MGI:1915465 RGD:1564603 616142 HGNC:26773 "ENST00000397609.6|NM_173611.4" -HGNC:27119 FAM98C family with sequence similarity 98 member C protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ44669 family with sequence similarity 98, member C 2005-11-03 2015-11-18 2023-01-20 147965 ENSG00000130244 OTTHUMG00000182084 uc002oin.2 NM_174905 "CCDS86763|CCDS42562" Q17RN3 12477932 MGI:1921083 RGD:1303117 HGNC:27119 "ENST00000252530.10|NM_174905.4" +HGNC:27119 FAM98C family with sequence similarity 98 member C protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ44669 family with sequence similarity 98, member C 2005-11-03 2015-11-18 2023-01-20 147965 ENSG00000130244 OTTHUMG00000182084 uc002oin.2 NM_174905 "CCDS42562|CCDS86763" Q17RN3 12477932 MGI:1921083 RGD:1303117 HGNC:27119 "ENST00000252530.10|NM_174905.4" HGNC:32368 FAM99A family with sequence similarity 99 member A non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 FLJ42833 "family with sequence similarity 99, member A|family with sequence similarity 99, member A (non-protein coding)|family with sequence similarity 99 member A (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2005-10-27 2018-05-17 2019-07-12 387742 ENSG00000205866 OTTHUMG00000057555 uc009ycz.4 AK124823 NR_026643 31173227 FAM99A HGNC:32368 HGNC:32369 FAM99B family with sequence similarity 99 member B non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 DKFZp781M09150 "family with sequence similarity 99, member B|family with sequence similarity 99, member B (non-protein coding)|family with sequence similarity 99 member B (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2005-10-27 2018-05-17 2019-07-11 100132464 ENSG00000205865 OTTHUMG00000057552 uc010qxa.2 CR627417 NR_026642 31243545 FAM99B HGNC:32369 -HGNC:25918 FAM104A family with sequence similarity 104 member A protein-coding gene gene with protein product Approved 17q25.1 17q25.1 FLJ14775 family with sequence similarity 104, member A 2005-12-16 2015-11-18 2023-01-20 84923 ENSG00000133193 OTTHUMG00000150564 uc002jji.5 AK027681 NM_032837 "CCDS74143|CCDS45766|CCDS74144|CCDS11693" Q969W3 MGI:106351 RGD:1563409 HGNC:25918 "ENST00000405159.8|NM_001098832.2" -HGNC:25085 FAM104B family with sequence similarity 104 member B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 FLJ20434 CXorf44 "chromosome X open reading frame 44|family with sequence similarity 104, member B" 2004-09-15 2006-05-16 2015-11-18 2023-01-20 90736 ENSG00000182518 OTTHUMG00000021646 uc004duh.3 BC000919 NM_138362 "CCDS55424|CCDS55422|CCDS55425|CCDS55426|CCDS94615|CCDS55423|CCDS35305" Q5XKR9 12477932 RGD:2323310 HGNC:25085 "ENST00000685693.1|NM_001166701.4" +HGNC:25918 FAM104A family with sequence similarity 104 member A protein-coding gene gene with protein product Approved 17q25.1 17q25.1 FLJ14775 family with sequence similarity 104, member A 2005-12-16 2015-11-18 2023-01-20 84923 ENSG00000133193 OTTHUMG00000150564 uc002jji.5 AK027681 NM_032837 "CCDS74144|CCDS74143|CCDS11693|CCDS45766" Q969W3 MGI:106351 RGD:1563409 HGNC:25918 "ENST00000405159.8|NM_001098832.2" +HGNC:25085 FAM104B family with sequence similarity 104 member B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 FLJ20434 CXorf44 "chromosome X open reading frame 44|family with sequence similarity 104, member B" 2004-09-15 2006-05-16 2015-11-18 2023-01-20 90736 ENSG00000182518 OTTHUMG00000021646 uc004duh.3 BC000919 NM_138362 "CCDS55425|CCDS55426|CCDS55424|CCDS35305|CCDS55422|CCDS55423|CCDS94615" Q5XKR9 12477932 RGD:2323310 HGNC:25085 "ENST00000685693.1|NM_001166701.4" HGNC:25682 FAM106A family with sequence similarity 106 member A non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 FLJ11800 family with sequence similarity 106, member A 2006-01-12 2015-11-18 2023-03-15 80039 ENSG00000273018 OTTHUMG00000179516 uc002gtz.3 AK021862 NR_170998 Q4KMX7 14702039 HGNC:25682 HGNC:32450 FAM106B family with sequence similarity 106 member B non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 family with sequence similarity 106, member B 2006-01-12 2015-11-18 2022-09-16 100996259 ENSG00000287751 BK001591 NR_172097 HGNC:32450 HGNC:38396 FAM106C family with sequence similarity 106 member C non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 FAM106CP "family with sequence similarity 106, member C, pseudogene|family with sequence similarity 106 member C, pseudogene" 2010-04-30 2019-03-06 2019-03-06 2022-09-16 100129396 ENSG00000288235 OTTHUMG00000178951 NR_170993 P0CH98 HGNC:38396 HGNC:38397 FAM106DP family with sequence similarity 106 member D, pseudogene pseudogene pseudogene Approved 17q23.1 17q23.1 FAM106D family with sequence similarity 106, member D, pseudogene 2010-04-30 2011-04-15 2015-11-18 2020-01-21 100874406 ENSG00000266960 OTTHUMG00000179988 NG_012050 PGOHUM00000237453 HGNC:38397 -HGNC:30827 FAM107A family with sequence similarity 107 member A protein-coding gene gene with protein product Approved 3p14.3-p14.2 03p14.3-p14.2 "DRR1|TU3A" down-regulated in renal cell carcinoma family with sequence similarity 107, member A 2006-01-17 2015-11-18 2023-01-20 11170 ENSG00000168309 OTTHUMG00000159159 uc003dkm.5 AF089854 NM_007177 "CCDS63673|CCDS63672|CCDS2892" O95990 "10564580|10702698" MGI:3041256 RGD:1306327 608295 HGNC:30827 "ENST00000360997.7|NM_001076778.3" +HGNC:30827 FAM107A family with sequence similarity 107 member A protein-coding gene gene with protein product Approved 3p14.3-p14.2 03p14.3-p14.2 "DRR1|TU3A" down-regulated in renal cell carcinoma family with sequence similarity 107, member A 2006-01-17 2015-11-18 2023-01-20 11170 ENSG00000168309 OTTHUMG00000159159 uc003dkm.5 AF089854 NM_007177 "CCDS2892|CCDS63673|CCDS63672" O95990 "10564580|10702698" MGI:3041256 RGD:1306327 608295 HGNC:30827 "ENST00000360997.7|NM_001076778.3" HGNC:23726 FAM107B family with sequence similarity 107 member B protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ45505|MGC11034|HITS" heat shock-inducible tumor small protein C10orf45 "chromosome 10 open reading frame 45|family with sequence similarity 107, member B" 2003-12-04 2005-11-20 2015-11-18 2023-01-20 83641 ENSG00000065809 OTTHUMG00000017709 uc001imz.3 AK127413 NM_031453 "CCDS7102|CCDS60486" Q9H098 11230166 MGI:1913790 RGD:1561482 HGNC:23726 "ENST00000181796.7|NM_031453.4" HGNC:16188 FAM110A family with sequence similarity 110 member A protein-coding gene gene with protein product Approved 20p13 20p13 bA371L19.3 C20orf55 "chromosome 20 open reading frame 55|family with sequence similarity 110, member A" 2001-07-17 2007-03-21 2015-11-18 2023-01-20 83541 ENSG00000125898 OTTHUMG00000031649 uc002wef.3 BC012800 NM_031424 CCDS13008 Q9BQ89 17499476 MGI:1921097 RGD:1308904 611393 HGNC:16188 "ENST00000381941.8|NM_001042353.3" HGNC:28587 FAM110B family with sequence similarity 110 member B protein-coding gene gene with protein product Approved 8q12.1 08q12.1 MGC39325 C8orf72 "chromosome 8 open reading frame 72|family with sequence similarity 110, member B" 2005-09-22 2007-03-21 2015-11-18 2023-01-20 90362 ENSG00000169122 OTTHUMG00000164282 uc003xtj.2 U79298 NM_147189 CCDS6170 Q8TC76 "8619474|9110174|17499476" MGI:1916593 RGD:1563403 611394 HGNC:28587 "ENST00000519262.6|NM_001377989.1" @@ -8659,20 +8660,20 @@ HGNC:33340 FAM110C family with sequence similarity 110 member C protein-coding g HGNC:25860 FAM110D family with sequence similarity 110 member D protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ14050 GRRP1 "glycine/arginine rich protein 1|family with sequence similarity 110, member D" 2005-07-26 2011-12-01 2015-11-18 2023-01-20 79927 ENSG00000197245 OTTHUMG00000007537 uc001blk.4 NM_024869 CCDS41285 Q8TAY7 12477932 MGI:1919940 RGD:1564994 HGNC:25860 "ENST00000374268.5|NM_024869.3" HGNC:24725 FAM111A FAM111 trypsin like peptidase A protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "FLJ22794|KIAA1895" family with sequence similarity 111 member A 2006-02-06 2020-10-09 2023-01-20 63901 ENSG00000166801 OTTHUMG00000167280 uc001nno.4 AK092953 NM_022074 CCDS7973 Q96PZ2 "23996431|2368401|24561620" MGI:1915508 RGD:1560913 615292 357054 HGNC:24725 "ENST00000675163.1|NM_001312909.2" HGNC:24725 HGNC:53752 FAM111A-DT FAM111A divergent transcript non-coding RNA RNA, long non-coding Approved 11q12.1 11q12.1 Divergent transcripts 1990 2017-09-28 2017-09-28 101927204 ENSG00000245571 OTTHUMG00000167435 BC028022 NR_110184 28942040 HGNC:53752 -HGNC:24200 FAM111B FAM111 trypsin like peptidase B protein-coding gene gene with protein product Approved 11q12.1 11q12.1 CANP family with sequence similarity 111 member B 2006-02-06 2020-10-09 2023-01-20 374393 ENSG00000189057 OTTHUMG00000167279 uc001nnl.5 BC062456 NM_198947 "CCDS7972|CCDS44611" Q6SJ93 24268661 615584 376965 HGNC:24200 "ENST00000343597.4|NM_198947.4" HGNC:24200 +HGNC:24200 FAM111B FAM111 trypsin like peptidase B protein-coding gene gene with protein product Approved 11q12.1 11q12.1 CANP family with sequence similarity 111 member B 2006-02-06 2020-10-09 2023-01-20 374393 ENSG00000189057 OTTHUMG00000167279 uc001nnl.5 BC062456 NM_198947 "CCDS44611|CCDS7972" Q6SJ93 24268661 615584 376965 HGNC:24200 "ENST00000343597.4|NM_198947.4" HGNC:24200 HGNC:25087 FAM114A1 family with sequence similarity 114 member A1 protein-coding gene gene with protein product Approved 4p14 04p14 Noxp20 family with sequence similarity 114, member A1 MicroRNA protein coding host genes 1691 2006-09-21 2015-11-18 2023-01-20 92689 ENSG00000197712 OTTHUMG00000128583 uc003gtn.4 NM_138389 "CCDS82916|CCDS3447" Q8IWE2 35671117 MGI:1915553 RGD:1560201 HGNC:25087 "ENST00000358869.5|NM_138389.4" HGNC:1333 FAM114A2 family with sequence similarity 114 member A2 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 133K02 C5orf3 "chromosome 5 open reading frame 3|family with sequence similarity 114, member A2" 1999-07-22 2008-06-13 2015-11-18 2023-01-20 10827 ENSG00000055147 OTTHUMG00000130147 uc003lvc.5 AF159700 NM_018691 "CCDS83036|CCDS4323" Q9NRY5 10843801 MGI:1917629 RGD:1305362 HGNC:1333 "ENST00000351797.9|NM_018691.4" -HGNC:24179 FAM117A family with sequence similarity 117 member A protein-coding gene gene with protein product Approved 17q21.33 17q21.33 C/EBP induced protein family with sequence similarity 117, member A 2006-04-26 2015-11-18 2023-01-20 81558 ENSG00000121104 OTTHUMG00000161696 uc002ipk.4 BC037572 NM_030802 "CCDS92358|CCDS11553" Q9C073 12477932 MGI:2144564 RGD:1561062 HGNC:24179 "ENST00000240364.7|NM_030802.4" +HGNC:24179 FAM117A family with sequence similarity 117 member A protein-coding gene gene with protein product Approved 17q21.33 17q21.33 C/EBP induced protein family with sequence similarity 117, member A 2006-04-26 2015-11-18 2023-01-20 81558 ENSG00000121104 OTTHUMG00000161696 uc002ipk.4 BC037572 NM_030802 "CCDS11553|CCDS92358" Q9C073 12477932 MGI:2144564 RGD:1561062 HGNC:24179 "ENST00000240364.7|NM_030802.4" HGNC:14440 FAM117B family with sequence similarity 117 member B protein-coding gene gene with protein product Approved 2q33.2 02q33.2 FLJ38771 ALS2CR13 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13|family with sequence similarity 117, member B" 2001-01-26 2008-08-18 2015-11-18 2023-01-20 150864 ENSG00000138439 OTTHUMG00000154550 uc010zhx.3 AB053315 NM_173511 CCDS33362 Q6P1L5 11586298 MGI:1920000 RGD:1307676 HGNC:14440 "ENST00000392238.3|NM_173511.4" HGNC:1313 FAM118A family with sequence similarity 118 member A protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "FLJ20635|bK268H5.C22.4" C22orf8 "chromosome 22 open reading frame 8|family with sequence similarity 118, member A" 2000-03-29 2006-04-26 2015-11-18 2023-01-20 55007 ENSG00000100376 OTTHUMG00000151338 uc003bfz.5 BC013696 NM_017911 CCDS14065 Q9NWS6 12477932 MGI:1920475 RGD:1560783 HGNC:1313 "ENST00000441876.7|NM_017911.4" HGNC:26110 FAM118B family with sequence similarity 118 member B protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ21103 family with sequence similarity 118, member B 2006-04-26 2015-11-18 2023-01-20 79607 ENSG00000197798 OTTHUMG00000165817 uc001qdf.4 BC001340 NM_024556 "CCDS8470|CCDS81647" Q9BPY3 "24569877|27819531" MGI:1924483 RGD:1307173 616587 HGNC:26110 "ENST00000533050.6|NM_024556.4" -HGNC:13247 FAM120A family with sequence similarity 120A protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "KIAA0183|OSSA" oxidative stess-associated Src activator C9orf10 chromosome 9 open reading frame 10 2002-10-09 2006-07-04 2006-07-04 2023-01-20 23196 ENSG00000048828 OTTHUMG00000020252 uc004atw.5 AF214737 NM_014612 "CCDS6706|CCDS75859" Q9NZB2 "14585507|19015244|25896327" MGI:2446163 RGD:1306643 612265 HGNC:13247 "ENST00000277165.11|NM_014612.5" HGNC:13247 +HGNC:13247 FAM120A family with sequence similarity 120A protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "KIAA0183|OSSA" oxidative stess-associated Src activator C9orf10 chromosome 9 open reading frame 10 2002-10-09 2006-07-04 2006-07-04 2023-01-20 23196 ENSG00000048828 OTTHUMG00000020252 uc004atw.5 AF214737 NM_014612 "CCDS75859|CCDS6706" Q9NZB2 "14585507|19015244|25896327" MGI:2446163 RGD:1306643 612265 HGNC:13247 "ENST00000277165.11|NM_014612.5" HGNC:13247 HGNC:31116 FAM120A2P family with sequence similarity 120A2, pseudogene pseudogene pseudogene Approved 9q22.31 09q22.31 bA165J3.3 C9orf129 chromosome 9 open reading frame 129 2004-08-25 2022-05-25 2022-05-25 2023-03-15 445577 ENSG00000204352 OTTHUMG00000020248 uc010mre.3 NR_166069 Q5T035 HGNC:31116 -HGNC:23389 FAM120AOS family with sequence similarity 120A opposite strand protein-coding gene gene with protein product Approved 9q22.31 09q22.31 C9orf10OS chromosome 9 open reading frame 10 opposite strand 2003-11-14 2006-07-04 2006-07-04 2023-01-20 158293 ENSG00000188938 OTTHUMG00000020251 uc004atu.5 AK056096 NM_001322224 "CCDS83385|CCDS6705" Q5T036 14585507 HGNC:23389 "ENST00000375412.11|NM_198841.4" -HGNC:21109 FAM120B family with sequence similarity 120B protein-coding gene gene with protein product Approved 6q27 06q27 "PGCC1|CCPG|SAN1" "PPARgamma constitutive coactivator 1|constitutive coactivator of PPAR-gamma|senataxin-associated nuclease 1" KIAA1838 KIAA1838 MicroRNA protein coding host genes 1691 2003-11-21 2006-07-04 2006-07-04 2023-01-20 84498 ENSG00000112584 OTTHUMG00000016080 uc003qxp.5 AB058741 NM_032448 "CCDS78200|CCDS69243|CCDS5314|CCDS75555" Q96EK7 "14585507|29968717" MGI:1914794 RGD:1310304 612266 HGNC:21109 "ENST00000476287.4|NM_032448.3" -HGNC:16949 FAM120C family with sequence similarity 120C protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "ORF34|FLJ20506" CXorf17 chromosome X open reading frame 17 2004-05-12 2006-07-04 2006-07-04 2023-01-20 54954 ENSG00000184083 OTTHUMG00000021625 uc004dsz.5 AY150025 NM_017848 "CCDS14356|CCDS75987|CCDS55421" Q9NX05 14585507 MGI:2387687 RGD:1564253 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM120C 300741 HGNC:16949 "ENST00000375180.7|NM_017848.6" -HGNC:26413 FAM124A family with sequence similarity 124 member A protein-coding gene gene with protein product Approved 13q14.3 13q14.3 FLJ30707 family with sequence similarity 124A 2006-08-11 2015-11-05 2023-01-20 220108 ENSG00000150510 OTTHUMG00000016942 uc001vff.3 AK096364 NM_145019 "CCDS81767|CCDS55900|CCDS9427" Q86V42 12975309 MGI:3645930 RGD:1593344 HGNC:26413 "ENST00000322475.13|NM_001242312.2" -HGNC:26224 FAM124B family with sequence similarity 124 member B protein-coding gene gene with protein product Approved 2q36.2 02q36.2 FLJ22746 family with sequence similarity 124B 2006-08-11 2015-11-05 2023-01-20 79843 ENSG00000124019 OTTHUMG00000133168 uc002vnx.4 AK075126 NM_024785 "CCDS46527|CCDS2461" Q9H5Z6 23285124 MGI:3026880 RGD:1589866 618403 HGNC:26224 "ENST00000409685.4|NM_001122779.2" +HGNC:23389 FAM120AOS family with sequence similarity 120A opposite strand protein-coding gene gene with protein product Approved 9q22.31 09q22.31 C9orf10OS chromosome 9 open reading frame 10 opposite strand 2003-11-14 2006-07-04 2006-07-04 2023-01-20 158293 ENSG00000188938 OTTHUMG00000020251 uc004atu.5 AK056096 NM_001322224 "CCDS6705|CCDS83385" Q5T036 14585507 HGNC:23389 "ENST00000375412.11|NM_198841.4" +HGNC:21109 FAM120B family with sequence similarity 120B protein-coding gene gene with protein product Approved 6q27 06q27 "PGCC1|CCPG|SAN1" "PPARgamma constitutive coactivator 1|constitutive coactivator of PPAR-gamma|senataxin-associated nuclease 1" KIAA1838 KIAA1838 MicroRNA protein coding host genes 1691 2003-11-21 2006-07-04 2006-07-04 2023-01-20 84498 ENSG00000112584 OTTHUMG00000016080 uc003qxp.5 AB058741 NM_032448 "CCDS75555|CCDS69243|CCDS78200|CCDS5314" Q96EK7 "14585507|29968717" MGI:1914794 RGD:1310304 612266 HGNC:21109 "ENST00000476287.4|NM_032448.3" +HGNC:16949 FAM120C family with sequence similarity 120C protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "ORF34|FLJ20506" CXorf17 chromosome X open reading frame 17 2004-05-12 2006-07-04 2006-07-04 2023-01-20 54954 ENSG00000184083 OTTHUMG00000021625 uc004dsz.5 AY150025 NM_017848 "CCDS75987|CCDS55421|CCDS14356" Q9NX05 14585507 MGI:2387687 RGD:1564253 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM120C 300741 HGNC:16949 "ENST00000375180.7|NM_017848.6" +HGNC:26413 FAM124A family with sequence similarity 124 member A protein-coding gene gene with protein product Approved 13q14.3 13q14.3 FLJ30707 family with sequence similarity 124A 2006-08-11 2015-11-05 2023-01-20 220108 ENSG00000150510 OTTHUMG00000016942 uc001vff.3 AK096364 NM_145019 "CCDS9427|CCDS81767|CCDS55900" Q86V42 12975309 MGI:3645930 RGD:1593344 HGNC:26413 "ENST00000322475.13|NM_001242312.2" +HGNC:26224 FAM124B family with sequence similarity 124 member B protein-coding gene gene with protein product Approved 2q36.2 02q36.2 FLJ22746 family with sequence similarity 124B 2006-08-11 2015-11-05 2023-01-20 79843 ENSG00000124019 OTTHUMG00000133168 uc002vnx.4 AK075126 NM_024785 "CCDS2461|CCDS46527" Q9H5Z6 23285124 MGI:3026880 RGD:1589866 618403 HGNC:26224 "ENST00000409685.4|NM_001122779.2" HGNC:28308 FAM131A family with sequence similarity 131 member A protein-coding gene gene with protein product Approved 3q27.1 03q27.1 MGC21688 C3orf40 "chromosome 3 open reading frame 40|family with sequence similarity 131, member A" 2006-01-06 2007-03-20 2015-11-18 2023-01-20 131408 ENSG00000175182 OTTHUMG00000156206 uc003foe.4 BC026221 NM_144635 "CCDS54689|CCDS3262" Q6UXB0 12975309 MGI:1925658 RGD:2322069 HGNC:28308 "ENST00000383847.7|NM_144635.5" HGNC:22202 FAM131B family with sequence similarity 131 member B protein-coding gene gene with protein product Approved 7q34 07q34 KIAA0773 family with sequence similarity 131, member B 2007-03-20 2015-11-18 2023-01-20 9715 ENSG00000159784 OTTHUMG00000152697 uc064ivp.1 BC045611 NM_014690 "CCDS5882|CCDS94222|CCDS47734" Q86XD5 MGI:1923406 RGD:1560653 619282 HGNC:22202 "ENST00000443739.7|NM_001031690.3" HGNC:55208 FAM131B-AS1 FAM131B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q34 07q34 Antisense RNAs 1987 2020-08-21 2020-08-21 101928397 ENSG00000272619 NR_183342 @@ -8686,7 +8687,7 @@ HGNC:44192 FAM133DP family with sequence similarity 133 member D, pseudogene pse HGNC:54729 FAM133EP family with sequence similarity 133 member E, pseudogene pseudogene pseudogene Approved 2p23.2 02p23.2 2019-12-18 2020-01-21 100505694 ENSG00000270528 NG_030289 HGNC:54730 FAM133FP family with sequence similarity 133 member F, pseudogene pseudogene pseudogene Approved 1q42.13 01q42.13 2019-12-18 2020-01-21 100421606 ENSG00000225934 NG_027047 HGNC:54731 FAM133GP family with sequence similarity 133 member G, pseudogene pseudogene pseudogene Approved 12p12.1 12p12.1 2019-12-18 2020-01-21 100421617 ENSG00000256079 NG_023992 -HGNC:21084 FAM135A family with sequence similarity 135 member A protein-coding gene gene with protein product Approved 6q13 06q13 FLJ20176 KIAA1411 "KIAA1411|family with sequence similarity 135, member A" 2003-11-21 2007-05-11 2015-11-18 2023-01-23 57579 ENSG00000082269 OTTHUMG00000014991 uc003pfh.4 AK000183 NM_020819 "CCDS55028|CCDS34481|CCDS47448|CCDS83104" Q9P2D6 10718198 MGI:1915437 RGD:1304927 470312 HGNC:21084 "ENST00000418814.7|NM_001162529.3" +HGNC:21084 FAM135A family with sequence similarity 135 member A protein-coding gene gene with protein product Approved 6q13 06q13 FLJ20176 KIAA1411 "KIAA1411|family with sequence similarity 135, member A" 2003-11-21 2007-05-11 2015-11-18 2023-01-23 57579 ENSG00000082269 OTTHUMG00000014991 uc003pfh.4 AK000183 NM_020819 "CCDS47448|CCDS83104|CCDS34481|CCDS55028" Q9P2D6 10718198 MGI:1915437 RGD:1304927 470312 HGNC:21084 "ENST00000418814.7|NM_001162529.3" HGNC:40955 FAM135A-AS1 FAM135A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 Antisense RNAs 1987 2019-07-25 2019-07-25 105377849 ENSG00000224349 OTTHUMG00000014990 NR_147708 HGNC:40955 HGNC:28029 FAM135B family with sequence similarity 135 member B protein-coding gene gene with protein product Approved 8q24.23 08q24.23 C8ORFK32 family with sequence similarity 135, member B 2007-05-11 2015-11-18 2023-01-20 51059 ENSG00000147724 OTTHUMG00000149864 uc003yuy.3 AB196635 NM_015912 CCDS6375 Q49AJ0 "8619474|9110174" MGI:1917613 RGD:1308133 HGNC:28029 "ENST00000395297.6|NM_015912.4" HGNC:25911 FAM136A family with sequence similarity 136 member A protein-coding gene gene with protein product Approved 2p13.3 02p13.3 FLJ14668 hypothetical protein FLJ14668 family with sequence similarity 136, member A 2007-07-10 2015-11-18 2023-01-20 84908 ENSG00000035141 OTTHUMG00000129668 uc002sgq.5 BC014975 NM_032822 "CCDS1904|CCDS86849" Q96C01 "25305078|32098576" MGI:1913738 RGD:1304825 616275 HGNC:25911 "ENST00000430566.6|NM_001329752.2" @@ -8702,7 +8703,7 @@ HGNC:32333 FAM138C family with sequence similarity 138 member C non-coding RNA R HGNC:33583 FAM138D family with sequence similarity 138 member D non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 F379 family with sequence similarity 138, member D Long non-coding RNAs with FAM root symbol 1993 2007-08-14 2015-11-18 2016-09-30 677784 ENSG00000249054 OTTHUMG00000167962 uc010scw.2 NR_026823 "11779631|15233989" FAM138D HGNC:33583 HGNC:32335 FAM138E family with sequence similarity 138 member E non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 F379 family with sequence similarity 138, member E Long non-coding RNAs with FAM root symbol 1993 2007-08-14 2015-11-18 2016-09-30 100124412 ENSG00000248893 OTTHUMG00000172273 uc010bpi.4 NR_026819 "11779631|15233989" FAM138E HGNC:32335 HGNC:33581 FAM138F family with sequence similarity 138 member F non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 F379 family with sequence similarity 138, member F Long non-coding RNAs with FAM root symbol 1993 2007-08-14 2015-11-18 2016-09-30 641702 ENSG00000282591 OTTHUMG00000180467 uc284pkl.1 NR_026820 "11779631|15233989" FAM138F HGNC:33581 -HGNC:24527 FAM149A family with sequence similarity 149 member A protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "DKFZP564J102|MST119|MSTP119" family with sequence similarity 149, member A 2007-11-14 2015-11-18 2023-01-20 25854 ENSG00000109794 OTTHUMG00000160565 uc063bno.1 AK057166 NM_001006655 "CCDS93680|CCDS34117" A5PLN7 MGI:2387177 RGD:1586153 HGNC:24527 +HGNC:24527 FAM149A family with sequence similarity 149 member A protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "DKFZP564J102|MST119|MSTP119" family with sequence similarity 149, member A 2007-11-14 2015-11-18 2023-01-20 25854 ENSG00000109794 OTTHUMG00000160565 uc063bno.1 AK057166 NM_001006655 "CCDS34117|CCDS93680" A5PLN7 MGI:2387177 RGD:1586153 HGNC:24527 HGNC:29162 FAM149B1 family with sequence similarity 149 member B1 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 KIAA0974 "KIAA0974|family with sequence similarity 149, member B1" 2004-09-07 2007-11-14 2015-11-18 2023-01-20 317662 ENSG00000138286 OTTHUMG00000067794 uc009xqz.4 AB023191 NM_173348 CCDS44435 Q96BN6 "30905400|35609210" MGI:2145567 RGD:1359592 618413 HGNC:29162 "ENST00000242505.11|NM_173348.2" HGNC:29162 HGNC:31735 FAM149B1P1 family with sequence similarity 149 member B1 pseudogene 1 pseudogene pseudogene Approved 15q26.2 15q26.2 "KIAA0974P|FAM149B2" "KIAA0974 pseudogene|family with sequence similarity 149, member B2|family with sequence similarity 149, member B1 pseudogene 1" 2007-08-01 2012-04-19 2015-11-18 2020-04-20 388181 ENSG00000214424 OTTHUMG00000165496 NG_029289 PGOHUM00000257996 HGNC:31735 HGNC:25032 FAM151A family with sequence similarity 151 member A protein-coding gene gene with protein product Approved 1p32.3 01p32.3 MGC27169 C1orf179 "chromosome 1 open reading frame 179|family with sequence similarity 151, member A" 2005-07-26 2007-12-18 2015-11-18 2023-01-20 338094 ENSG00000162391 OTTHUMG00000009888 uc001cxn.4 AK091901 NM_176782 CCDS594 Q8WW52 17273976 MGI:2657115 RGD:1359194 HGNC:25032 "ENST00000302250.7|NM_176782.3" @@ -8733,13 +8734,13 @@ HGNC:27016 FAM168B family with sequence similarity 168 member B protein-coding g HGNC:29138 FAM169A family with sequence similarity 169 member A protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "KIAA0888|SLAP75" soluble lamina-associated protein of 75 kD family with sequence similarity 169, member A 2008-06-11 2015-11-18 2023-01-20 26049 ENSG00000198780 OTTHUMG00000162930 uc003kdm.4 NM_001376049 CCDS43330 Q9Y6X4 "10048485|22412018" MGI:2444268 RGD:1590893 615769 HGNC:29138 "ENST00000687041.1|NM_001376049.1" HGNC:56226 FAM169A-AS1 FAM169A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 TP53LC02 Antisense RNAs 1987 2022-04-20 2022-07-22 441086 ENSG00000271714 NR_134288 35609991 HGNC:26835 FAM169BP family with sequence similarity 169 member B, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 "FLJ39743|KIAA0888L" FAM169B "family with sequence similarity 169, member B|family with sequence similarity 169 member B" 2008-06-11 2022-06-06 2022-06-06 2023-03-15 283777 ENSG00000283597 OTTHUMG00000171863 uc002buk.1 NR_171054 Q8N8A8 MGI:3644026 RGD:1585883 HGNC:26835 -HGNC:27963 FAM170A family with sequence similarity 170 member A protein-coding gene gene with protein product Approved 5q23.1 05q23.1 ZNFD family with sequence similarity 170, member A 2008-06-12 2015-11-18 2023-01-20 340069 ENSG00000164334 OTTHUMG00000162946 uc003ksn.4 AF427126 NM_182761 "CCDS93765|CCDS54889|CCDS43353" A1A519 "20162441|22231842" MGI:2684939 RGD:1565393 618401 HGNC:27963 "ENST00000695508.1|NM_001367956.1" +HGNC:27963 FAM170A family with sequence similarity 170 member A protein-coding gene gene with protein product Approved 5q23.1 05q23.1 ZNFD family with sequence similarity 170, member A 2008-06-12 2015-11-18 2023-01-20 340069 ENSG00000164334 OTTHUMG00000162946 uc003ksn.4 AF427126 NM_182761 "CCDS54889|CCDS93765|CCDS43353" A1A519 "20162441|22231842" MGI:2684939 RGD:1565393 618401 HGNC:27963 "ENST00000695508.1|NM_001367956.1" HGNC:19736 FAM170B family with sequence similarity 170 member B protein-coding gene gene with protein product Approved 10q11.23 10q11.23 AC084727.4 C10orf73 "chromosome 10 open reading frame 73|family with sequence similarity 170, member B" 2004-02-05 2008-06-12 2015-11-18 2023-01-20 170370 ENSG00000172538 OTTHUMG00000018187 uc001jhj.4 NM_001164484 CCDS53536 A6NMN3 26179146 MGI:2145650 RGD:2318714 HGNC:19736 "ENST00000311787.6|NM_001164484.2" HGNC:45006 FAM170B-AS1 FAM170B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.23 10q11.23 Antisense RNAs 1987 2013-01-07 2013-01-07 100506733 ENSG00000234736 OTTHUMG00000018186 uc001jhi.2 NR_038973 FAM170B-AS1 HGNC:45006 HGNC:23522 FAM171A1 family with sequence similarity 171 member A1 protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ12884|APCN" astroprincin C10orf38 "chromosome 10 open reading frame 38|family with sequence similarity 171, member A1" 2004-05-27 2008-06-16 2015-11-18 2023-01-20 221061 ENSG00000148468 OTTHUMG00000017732 uc001iob.4 AK022946 NM_001010924 CCDS31154 Q5VUB5 30312582 MGI:2442917 RGD:1594172 HGNC:23522 "ENST00000378116.9|NM_001010924.2" HGNC:30480 FAM171A2 family with sequence similarity 171 member A2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MGC34829 family with sequence similarity 171, member A2 2008-06-16 2015-11-18 2023-01-27 284069 ENSG00000161682 OTTHUMG00000132421 uc002igs.3 NM_198475 CCDS45701 A8MVW0 33087363 MGI:2448496 RGD:1307966 HGNC:30480 "ENST00000293443.12|NM_198475.3" HGNC:29412 FAM171B family with sequence similarity 171 member B protein-coding gene gene with protein product Approved 2q32.1 02q32.1 FLJ34104 KIAA1946 "KIAA1946|family with sequence similarity 171, member B" 2004-04-21 2008-06-16 2015-11-18 2023-01-20 165215 ENSG00000144369 OTTHUMG00000154278 uc002upt.4 AF361495 NM_177454 CCDS33347 Q6P995 11853319 MGI:2444579 RGD:1562526 620309 HGNC:29412 "ENST00000304698.10|NM_177454.4" -HGNC:25365 FAM172A family with sequence similarity 172 member A protein-coding gene gene with protein product Approved 5q15 05q15 "DKFZP564D172|Toupee" C5orf21 "chromosome 5 open reading frame 21|family with sequence similarity 172, member A" MicroRNA protein coding host genes 1691 2006-02-07 2008-06-16 2015-11-18 2023-01-20 83989 ENSG00000113391 OTTHUMG00000131329 uc010jbd.4 NM_032042 "CCDS54880|CCDS54879|CCDS4069" Q8WUF8 29311329 MGI:1915925 RGD:1305526 HGNC:25365 "ENST00000395965.8|NM_032042.6" +HGNC:25365 FAM172A family with sequence similarity 172 member A protein-coding gene gene with protein product Approved 5q15 05q15 "DKFZP564D172|Toupee" C5orf21 "chromosome 5 open reading frame 21|family with sequence similarity 172, member A" MicroRNA protein coding host genes 1691 2006-02-07 2008-06-16 2015-11-18 2023-01-20 83989 ENSG00000113391 OTTHUMG00000131329 uc010jbd.4 NM_032042 "CCDS4069|CCDS54880|CCDS54879" Q8WUF8 29311329 MGI:1915925 RGD:1305526 HGNC:25365 "ENST00000395965.8|NM_032042.6" HGNC:34336 FAM172BP family with sequence similarity 172 member B, pseudogene pseudogene pseudogene Approved 3q12.3 03q12.3 "LOC131909|FLJ45679" similar to CG10038-PB, isoform B FAM172B "family with sequence similarity 172, member B pseudogene|family with sequence similarity 172, member B, pseudogene" 2008-06-16 2011-04-15 2015-11-18 2021-03-16 131909 ENSG00000175841 OTTHUMG00000159125 XR_041878 A6NC97 HGNC:34336 HGNC:24943 FAM174A family with sequence similarity 174 member A protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "UNQ1912|NS5ATP6" hepatitis C virus nonstructural protein 5A trans-activated protein 6 TMEM157 "transmembrane protein 157|family with sequence similarity 174, member A" 2006-05-23 2008-06-19 2015-11-18 2023-01-20 345757 ENSG00000174132 OTTHUMG00000128726 uc003knj.2 AY359108 NM_198507 CCDS4090 Q8TBP5 12975309 MGI:1914948 RGD:1309973 HGNC:24943 "ENST00000312637.5|NM_198507.3" HGNC:55584 FAM174A-DT FAM174A divergent transcript non-coding RNA RNA, long non-coding Approved 5q21.1 05q21.1 Divergent transcripts 1990 2021-04-23 2021-04-23 121232371 ENSG00000247877 NR_172939 @@ -8748,7 +8749,7 @@ HGNC:26073 FAM174C family with sequence similarity 174 member C protein-coding g HGNC:19829 FAM177A1 family with sequence similarity 177 member A1 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 C14orf24 "chromosome 14 open reading frame 24|family with sequence similarity 177, member A1" 2003-01-13 2008-07-09 2015-11-18 2023-02-17 283635 ENSG00000151327 OTTHUMG00000140217 uc001wsq.4 BG722411 NM_173607 "CCDS9653|CCDS41944" Q8N128 34799425 MGI:1920635 RGD:2323636 619181 HGNC:19829 "ENST00000280987.9|NM_173607.5" HGNC:34441 FAM177A1P1 family with sequence similarity 177 member A1 pseudogene 1 pseudogene pseudogene Approved 4q23 04q23 FAM177A2 "family with sequence similarity 177, member A2|family with sequence similarity 177, member A1 pseudogene 1" 2008-07-09 2012-04-19 2015-11-18 2016-09-30 728710 ENSG00000214886 OTTHUMG00000161228 NG_011746 HGNC:34441 HGNC:34395 FAM177B family with sequence similarity 177 member B protein-coding gene gene with protein product Approved 1q41 01q41 "RP11-452F19.2|FLJ43505" family with sequence similarity 177, member B 2008-07-09 2015-11-18 2023-01-20 400823 ENSG00000197520 OTTHUMG00000037766 uc057pqu.1 AK125494 NM_207468 CCDS1535 A6PVY3 RGD:7728997 HGNC:34395 "ENST00000445590.4|NM_001394345.1" -HGNC:28036 FAM178B family with sequence similarity 178 member B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 LOC51252 family with sequence similarity 178, member B 2008-07-18 2015-11-18 2023-01-20 51252 ENSG00000168754 OTTHUMG00000155257 uc002sxj.4 "AF151068|BC039488" NM_016490 "CCDS46366|CCDS33252" Q8IXR5 11042152 MGI:3026913 RGD:1564591 HGNC:28036 "ENST00000490605.3|NM_001122646.3" +HGNC:28036 FAM178B family with sequence similarity 178 member B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 LOC51252 family with sequence similarity 178, member B 2008-07-18 2015-11-18 2023-01-20 51252 ENSG00000168754 OTTHUMG00000155257 uc002sxj.4 "AF151068|BC039488" NM_016490 "CCDS33252|CCDS46366" Q8IXR5 11042152 MGI:3026913 RGD:1564591 HGNC:28036 "ENST00000490605.3|NM_001122646.3" HGNC:33773 FAM180A family with sequence similarity 180 member A protein-coding gene gene with protein product Approved 7q33 07q33 "HWKM1940|UNQ1940" family with sequence similarity 180, member A 2008-07-21 2015-11-18 2023-01-20 389558 ENSG00000189320 OTTHUMG00000155537 uc003vtd.4 "AC091736|AK290250|AK310180|AY358803" NM_205855 CCDS5841 Q6UWF9 "12975309|12690205" MGI:3039626 RGD:1308013 HGNC:33773 "ENST00000338588.8|NM_205855.4" HGNC:34451 FAM180B family with sequence similarity 180 member B protein-coding gene gene with protein product Approved 11p11.2 11p11.2 LOC399888 hypothetical gene supported by BC065704 family with sequence similarity 180, member B 2008-07-21 2015-11-18 2023-01-20 399888 ENSG00000196666 OTTHUMG00000167871 uc058bgt.1 BC065704 NM_001164379 CCDS91471 Q6P0A1 12477932 RGD:11469551 HGNC:34451 "ENST00000538490.3|NM_001164379.3" HGNC:20491 FAM181A family with sequence similarity 181 member A protein-coding gene gene with protein product Approved 14q32.12 14q32.12 C14orf152 "chromosome 14 open reading frame 152|family with sequence similarity 181, member A" 2004-06-11 2008-07-22 2015-11-18 2023-01-20 90050 ENSG00000140067 OTTHUMG00000171297 uc021say.2 BC009073 NM_138344 "CCDS55939|CCDS9914" Q8N9Y4 26407640 MGI:3647570 RGD:6504274 HGNC:20491 "ENST00000556222.2|NM_001207073.2" @@ -8759,9 +8760,9 @@ HGNC:34503 FAM182B family with sequence similarity 182 member B non-coding RNA R HGNC:34511 FAM183BP family with sequence similarity 183 member B, pseudogene pseudogene pseudogene Approved 7p14.1 07p14.1 LOC340286 FAM183B "family with sequence similarity 183, member B|family with sequence similarity 183, member B, pseudogene" 2008-08-11 2015-08-27 2015-11-18 2016-09-30 340286 ENSG00000164556 OTTHUMG00000153653 "AK124132|BC045803" NR_028347 Q6ZVS7 MGI:1922679 HGNC:34511 HGNC:51331 FAM183DP family with sequence similarity 183 member D, pseudogene pseudogene pseudogene Approved 2q12.1 02q12.1 family with sequence similarity 183, member D, pseudogene 2014-10-06 2015-11-18 2016-09-30 101060105 ENSG00000205716 OTTHUMG00000153041 XR_007087162 PGOHUM00000298046 HGNC:51331 HGNC:51332 FAM183EP family with sequence similarity 183 member E, pseudogene pseudogene pseudogene Approved 1q41 01q41 family with sequence similarity 183, member E, pseudogene 2014-10-06 2015-11-18 2017-01-19 107403081 NG_046798 PGOHUM00000296056 HGNC:51332 -HGNC:20991 FAM184A family with sequence similarity 184 member A protein-coding gene gene with protein product Approved 6q22.31 06q22.31 FLJ13942 C6orf60 "chromosome 6 open reading frame 60|family with sequence similarity 184, member A" MicroRNA protein coding host genes 1691 2003-04-30 2008-08-14 2015-11-18 2023-01-20 79632 ENSG00000111879 OTTHUMG00000015471 uc003pyj.5 BC009055 NM_024581 "CCDS43499|CCDS43500|CCDS75508" Q8NB25 11230166 MGI:1923156 RGD:1311294 HGNC:20991 "ENST00000338891.12|NM_024581.6" +HGNC:20991 FAM184A family with sequence similarity 184 member A protein-coding gene gene with protein product Approved 6q22.31 06q22.31 FLJ13942 C6orf60 "chromosome 6 open reading frame 60|family with sequence similarity 184, member A" MicroRNA protein coding host genes 1691 2003-04-30 2008-08-14 2015-11-18 2023-01-20 79632 ENSG00000111879 OTTHUMG00000015471 uc003pyj.5 BC009055 NM_024581 "CCDS43499|CCDS75508|CCDS43500" Q8NB25 11230166 MGI:1923156 RGD:1311294 HGNC:20991 "ENST00000338891.12|NM_024581.6" HGNC:29235 FAM184B family with sequence similarity 184 member B protein-coding gene gene with protein product Approved 4p15.32-p15.31 04p15.32-p15.31 KIAA1276 family with sequence similarity 184, member B 2008-08-14 2015-11-18 2023-01-20 27146 ENSG00000047662 OTTHUMG00000160287 uc003gpm.5 NM_015688 CCDS47033 Q9ULE4 10574462 MGI:2442958 RGD:1564950 619945 HGNC:29235 "ENST00000265018.4|NM_015688.2" -HGNC:22412 FAM185A family with sequence similarity 185 member A protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MGC35361 family with sequence similarity 185, member A 2008-09-17 2015-11-18 2023-01-20 222234 ENSG00000222011 OTTHUMG00000154140 uc011klg.3 BC029175 NM_001145268 "CCDS47677|CCDS47676" Q8N0U4 MGI:2140983 RGD:1562135 HGNC:22412 "ENST00000413034.3|NM_001145268.2" +HGNC:22412 FAM185A family with sequence similarity 185 member A protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MGC35361 family with sequence similarity 185, member A 2008-09-17 2015-11-18 2023-01-20 222234 ENSG00000222011 OTTHUMG00000154140 uc011klg.3 BC029175 NM_001145268 "CCDS47676|CCDS47677" Q8N0U4 MGI:2140983 RGD:1562135 HGNC:22412 "ENST00000413034.3|NM_001145268.2" HGNC:21813 FAM185BP family with sequence similarity 185 member B, pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 FAM185B family with sequence similarity 185, member B pseudogene 2008-09-17 2011-05-04 2015-11-18 2016-09-30 641808 ENSG00000214439 OTTHUMG00000154141 XM_001717516 PGOHUM00000232895 HGNC:21813 HGNC:26980 FAM186A family with sequence similarity 186 member A protein-coding gene gene with protein product Approved 12q13.12 12q13.12 LOC121006 family with sequence similarity 186, member A 2008-09-17 2015-11-18 2023-01-20 121006 ENSG00000185958 OTTHUMG00000167889 uc001rwl.3 NM_001145475 CCDS44878 A6NE01 MGI:2685766 RGD:2323958 HGNC:26980 "ENST00000327337.6|NM_001145475.3" HGNC:25296 FAM186B family with sequence similarity 186 member B protein-coding gene gene with protein product Approved 12q13.12 12q13.12 DKFZP434J0113 C12orf25 "chromosome 12 open reading frame 25|family with sequence similarity 186, member B" 2006-01-10 2008-09-17 2015-11-18 2023-01-20 84070 ENSG00000135436 OTTHUMG00000167427 uc001ruo.4 AL136748 NM_032130 CCDS8788 Q8IYM0 11230166 MGI:3647604 RGD:1559522 HGNC:25296 "ENST00000257894.2|NM_032130.3" @@ -8769,8 +8770,8 @@ HGNC:35153 FAM187A family with sequence similarity 187 member A protein-coding g HGNC:26366 FAM187B family with sequence similarity 187 member B protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ25660 TMEM162 "transmembrane protein 162|family with sequence similarity 187, member B" 2006-06-21 2008-10-16 2015-11-18 2023-01-20 148109 ENSG00000177558 OTTHUMG00000164450 uc002nyk.2 AK098526 NM_152481 CCDS12448 Q17R55 MGI:1923665 RGD:1597448 HGNC:26366 "ENST00000324675.4|NM_152481.2" HGNC:49213 FAM187B2P family with sequence similarity 187 member B2, pseudogene pseudogene pseudogene Approved 19q13.12 19q13.12 family with sequence similarity 187, member B2, pseudogene 2013-10-09 2015-11-18 2016-09-30 100421621 ENSG00000262497 OTTHUMG00000177833 NG_024180 PGOHUM00000234290 HGNC:49213 HGNC:37194 FAM192BP family with sequence similarity 192 member B, pseudogene pseudogene pseudogene Approved 4q31.3 04q31.3 rcNIP30 FAM192B "family with sequence similarity 192, member B pseudogene|family with sequence similarity 192, member B, pseudogene" 2009-08-19 2011-04-15 2015-11-18 2016-10-24 152667 ENSG00000231841 OTTHUMG00000161465 NG_007351 16201836 PGOHUM00000300401 HGNC:37194 -HGNC:16822 FAM193A family with sequence similarity 193 member A protein-coding gene gene with protein product Approved 4p16.3 04p16.3 RES4-22 C4orf8 "chromosome 4 open reading frame 8|family with sequence similarity 193, member A" 2003-01-08 2009-09-04 2015-11-18 2023-05-18 8603 ENSG00000125386 OTTHUMG00000160512 uc003gfd.4 AB000459 NM_003704 "CCDS58875|CCDS93467|CCDS33943|CCDS58876|CCDS58874" P78312 "9734812|36897777" MGI:2447768 RGD:1309634 620037 HGNC:16822 "ENST00000637812.2|NM_001366318.2" -HGNC:25524 FAM193B family with sequence similarity 193 member B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "KIAA1931|FLJ10404|IRIZIO" family with sequence similarity 193, member B 2009-09-04 2015-11-18 2023-03-15 54540 ENSG00000146067 OTTHUMG00000163396 uc003mhu.4 NM_019057 "CCDS54954|CCDS93831" Q96PV7 "11572484|26188516|21177767" MGI:2385851 RGD:1562335 615813 HGNC:25524 "ENST00000514747.6|NM_001190946.3" +HGNC:16822 FAM193A family with sequence similarity 193 member A protein-coding gene gene with protein product Approved 4p16.3 04p16.3 RES4-22 C4orf8 "chromosome 4 open reading frame 8|family with sequence similarity 193, member A" 2003-01-08 2009-09-04 2015-11-18 2023-05-18 8603 ENSG00000125386 OTTHUMG00000160512 uc003gfd.4 AB000459 NM_003704 "CCDS33943|CCDS93467|CCDS58875|CCDS58874|CCDS58876" P78312 "9734812|36897777" MGI:2447768 RGD:1309634 620037 HGNC:16822 "ENST00000637812.2|NM_001366318.2" +HGNC:25524 FAM193B family with sequence similarity 193 member B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "KIAA1931|FLJ10404|IRIZIO" family with sequence similarity 193, member B 2009-09-04 2015-11-18 2023-03-15 54540 ENSG00000146067 OTTHUMG00000163396 uc003mhu.4 NM_019057 "CCDS93831|CCDS54954" Q96PV7 "11572484|26188516|21177767" MGI:2385851 RGD:1562335 615813 HGNC:25524 "ENST00000514747.6|NM_001190946.3" HGNC:55212 FAM193B-DT FAM193B divergent transcript non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Divergent transcripts 1990 2020-08-21 2020-08-21 105377750 ENSG00000272459 XR_007059074 HGNC:37464 FAM197Y1 family with sequence similarity 197 Y-linked member 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 FAM197Y1P "family with sequence similarity 197, Y-linked, member 1|family with sequence similarity 197 Y-linked member 1, pseudogene" 2009-10-16 2017-01-20 2017-01-20 2017-01-20 100289265 ENSG00000224336 OTTHUMG00000187490 HGNC:18848 FAM197Y2 family with sequence similarity 197 Y-linked member 2 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 "CYorf16|FAM197Y2P" "chromosome Y open reading frame 16|family with sequence similarity 197, Y-linked, member 2, pseudogene|family with sequence similarity 197 Y-linked member 2, pseudogene" Long non-coding RNAs with FAM root symbol 1993 2002-07-22 2017-01-20 2017-01-20 2017-01-20 252946 ENSG00000234803 OTTHUMG00000041523 AF527835 NR_001553 HGNC:18848 @@ -8809,12 +8810,12 @@ HGNC:49613 FAM217AP1 family with sequence similarity 217 member A pseudogene 1 p HGNC:16170 FAM217B family with sequence similarity 217 member B protein-coding gene gene with protein product Approved 20q13.33 20q13.33 dJ551D2.5 C20orf177 "chromosome 20 open reading frame 177|family with sequence similarity 217, member B" 2001-07-17 2012-02-07 2015-11-18 2023-01-20 63939 ENSG00000196227 OTTHUMG00000032873 uc002yba.4 AL109928 NM_022106 CCDS13484 Q9NTX9 MGI:1918782 RGD:1311952 HGNC:16170 "ENST00000360816.8|NM_022106.3" HGNC:26466 FAM218A family with sequence similarity 218 member A non-coding RNA RNA, long non-coding Approved 4q32.3 04q32.3 "FLJ31659|TRIM61-AS1" TRIM61 antisense RNA 1 C4orf39 "chromosome 4 open reading frame 39|family with sequence similarity 218, member A" Long non-coding RNAs with FAM root symbol 1993 2007-07-10 2012-03-01 2015-11-18 2023-03-15 152756 ENSG00000250486 OTTHUMG00000161252 uc003iqx.2 AK056221 NR_160935 Q96MZ4 29982784 HGNC:26466 HGNC:43779 FAM218BP family with sequence similarity 218 member B, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 family with sequence similarity 218, member B, pseudogene 2012-03-01 2015-11-18 2019-09-20 101059914 ENSG00000221891 OTTHUMG00000161269 NG_046631 PGOHUM00000245754 HGNC:43779 -HGNC:19920 FAM219A family with sequence similarity 219 member A protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA573M23.5|FLJ39031" C9orf25 "chromosome 9 open reading frame 25|family with sequence similarity 219, member A" 2002-12-03 2012-03-06 2015-11-18 2023-01-20 203259 ENSG00000164970 OTTHUMG00000019822 uc003zuj.4 AK096350 NM_001184940 "CCDS55304|CCDS6556" Q8IW50 "9110174|8619474" MGI:1919151 RGD:1588668 HGNC:19920 "ENST00000651358.1|NM_001184940.2" +HGNC:19920 FAM219A family with sequence similarity 219 member A protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA573M23.5|FLJ39031" C9orf25 "chromosome 9 open reading frame 25|family with sequence similarity 219, member A" 2002-12-03 2012-03-06 2015-11-18 2023-01-20 203259 ENSG00000164970 OTTHUMG00000019822 uc003zuj.4 AK096350 NM_001184940 "CCDS6556|CCDS55304" Q8IW50 "9110174|8619474" MGI:1919151 RGD:1588668 HGNC:19920 "ENST00000651358.1|NM_001184940.2" HGNC:24695 FAM219B family with sequence similarity 219 member B protein-coding gene gene with protein product Approved 15q24.1-q24.2 15q24.1-q24.2 FLJ00005 C15orf17 "chromosome 15 open reading frame 17|family with sequence similarity 219, member B" 2004-01-08 2012-03-06 2015-11-18 2023-01-20 57184 ENSG00000178761 OTTHUMG00000172715 uc002azh.4 AK000005 NM_020447 CCDS32295 Q5XKK7 11214971 MGI:1925573 RGD:1310727 HGNC:24695 "ENST00000357635.10|NM_020447.5" HGNC:22422 FAM220A family with sequence similarity 220 member A protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "SIPAR|MGC12966|ACPIN1" "STAT3-interacting protein as a repressor|acrosomal protein 1" C7orf70 "chromosome 7 open reading frame 70|family with sequence similarity 220, member A" 2009-04-20 2012-03-19 2015-11-18 2023-03-15 84792 ENSG00000178397 OTTHUMG00000122091 uc064bhn.1 BC006110 NM_001037163 CCDS34599 Q7Z4H9 "19659802|23917203|26026268" MGI:1914488 RGD:1561923 616628 HGNC:22422 "ENST00000313324.9|NM_001037163.2" HGNC:23678 FAM220BP family with sequence similarity 220 member B, pseudogene pseudogene pseudogene Approved 9p13.1 09p13.1 bA392E22.4 C9orf51 "chromosome 9 open reading frame 51|family with sequence similarity 220, member B, pseudogene" 2005-12-22 2012-03-19 2015-11-18 2016-10-05 647044 ENSG00000176007 OTTHUMG00000019947 AL390726 NG_041772 B1ANY3 MGI:1914488 HGNC:23678 HGNC:43640 FAM220CP family with sequence similarity 220 member C, pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 family with sequence similarity 220, member C, pseudogene 2012-03-19 2015-11-18 2016-09-30 100507415 ENSG00000213612 OTTHUMG00000020316 PGOHUM00000263245 HGNC:43640 -HGNC:27977 FAM221A family with sequence similarity 221 member A protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "FLJ45875|MGC72075|DKFZp686F0810" C7orf46 "chromosome 7 open reading frame 46|family with sequence similarity 221, member A" 2006-08-25 2012-04-02 2015-11-18 2023-01-20 340277 ENSG00000188732 OTTHUMG00000128463 uc003swo.4 NM_199136 "CCDS47562|CCDS47561|CCDS5385|CCDS75570" A4D161 12477932 MGI:2442161 RGD:1563175 HGNC:27977 "ENST00000344962.9|NM_199136.5" +HGNC:27977 FAM221A family with sequence similarity 221 member A protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "FLJ45875|MGC72075|DKFZp686F0810" C7orf46 "chromosome 7 open reading frame 46|family with sequence similarity 221, member A" 2006-08-25 2012-04-02 2015-11-18 2023-01-20 340277 ENSG00000188732 OTTHUMG00000128463 uc003swo.4 NM_199136 "CCDS47561|CCDS75570|CCDS47562|CCDS5385" A4D161 12477932 MGI:2442161 RGD:1563175 HGNC:27977 "ENST00000344962.9|NM_199136.5" HGNC:30762 FAM221B family with sequence similarity 221 member B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 C9orf128 "chromosome 9 open reading frame 128|family with sequence similarity 221, member B" 2004-04-16 2012-04-02 2015-11-18 2023-01-20 392307 ENSG00000204930 OTTHUMG00000019880 uc010mlc.3 BX648702 NM_001012446 CCDS43799 A6H8Z2 MGI:2441678 RGD:1310425 HGNC:30762 "ENST00000423537.7|NM_001012446.4" HGNC:25915 FAM222A family with sequence similarity 222 member A protein-coding gene gene with protein product Approved 12q24.11 12q24.11 FLJ14721 aggregatin C12orf34 "chromosome 12 open reading frame 34|family with sequence similarity 222, member A" 2006-01-20 2012-04-27 2015-11-18 2023-02-17 84915 ENSG00000139438 OTTHUMG00000169260 uc001tpd.3 AK027627 NM_032829 CCDS9133 Q5U5X8 31964863 MGI:3605543 RGD:1565883 HGNC:25915 "ENST00000538780.2|NM_032829.3" HGNC:28223 FAM222A-AS1 FAM222A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.11 12q24.11 FAM222A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-04-27 2012-08-15 2012-10-12 84983 ENSG00000255650 OTTHUMG00000169261 uc031qjl.2 NR_026661 12477932 FAM222A-AS1 HGNC:28223 @@ -8828,9 +8829,9 @@ HGNC:21865 FAM225B family with sequence similarity 225 member B non-coding RNA R HGNC:28544 FAM226A family with sequence similarity 226 member A non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 MGC34827 "CXorf50|NCRNA00246|NCRNA00246A|LINC00246A" "chromosome X open reading frame 50|non-protein coding RNA 246|non-protein coding RNA 246A|long intergenic non-protein coding RNA 246A|family with sequence similarity 226, member A (non-protein coding)|family with sequence similarity 226 member A (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2004-12-03 2012-07-04 2018-05-17 2018-05-17 203429 BC041962 NR_026595 12477932 HGNC:28544 HGNC:31964 FAM226B family with sequence similarity 226 member B non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 "CXorf50B|NCRNA00246B|LINC00246B" "chromosome X open reading frame 50B|non-protein coding RNA 246B|long intergenic non-protein coding RNA 246B|family with sequence similarity 226, member B (non-protein coding)|family with sequence similarity 226 member B (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2007-08-03 2012-07-04 2018-05-17 2020-04-20 653687 ENSG00000269911 BC025725 NR_026594 16382448 HGNC:31964 HGNC:44197 FAM227A family with sequence similarity 227 member A protein-coding gene gene with protein product Approved 22q13.1 22q13.1 family with sequence similarity 227, member A 2012-07-04 2015-11-18 2023-01-20 646851 ENSG00000184949 OTTHUMG00000151133 uc062egg.1 NM_001013647 CCDS93164 F5H4B4 MGI:1922979 RGD:1305939 HGNC:44197 "ENST00000535113.7|NM_001013647.2" -HGNC:26543 FAM227B family with sequence similarity 227 member B protein-coding gene gene with protein product Approved 15q21.2 15q21.2 FLJ32800 C15orf33 "chromosome 15 open reading frame 33|family with sequence similarity 227, member B" 2005-10-20 2012-07-04 2015-11-18 2023-01-20 196951 ENSG00000166262 OTTHUMG00000172328 uc001zxl.3 NM_152647 "CCDS81880|CCDS32237" Q96M60 MGI:1923073 RGD:1359452 HGNC:26543 "ENST00000299338.11|NM_152647.3" +HGNC:26543 FAM227B family with sequence similarity 227 member B protein-coding gene gene with protein product Approved 15q21.2 15q21.2 FLJ32800 C15orf33 "chromosome 15 open reading frame 33|family with sequence similarity 227, member B" 2005-10-20 2012-07-04 2015-11-18 2023-01-20 196951 ENSG00000166262 OTTHUMG00000172328 uc001zxl.3 NM_152647 "CCDS32237|CCDS81880" Q96M60 MGI:1923073 RGD:1359452 HGNC:26543 "ENST00000299338.11|NM_152647.3" HGNC:34418 FAM228A family with sequence similarity 228 member A protein-coding gene gene with protein product Approved 2p23.3 02p23.3 FLJ30851 C2orf84 "chromosome 2 open reading frame 84|family with sequence similarity 228, member A" 2009-01-26 2012-07-04 2015-11-18 2023-01-20 653140 ENSG00000186453 OTTHUMG00000151903 uc002rfc.3 NM_001040710 CCDS42659 Q86W67 MGI:1922105 RGD:1359275 HGNC:34418 "ENST00000295150.8|NM_001040710.3" -HGNC:24736 FAM228B family with sequence similarity 228 member B protein-coding gene gene with protein product Approved 2p23.3 02p23.3 family with sequence similarity 228, member B 2012-07-04 2015-11-18 2023-01-20 375190 ENSG00000219626 OTTHUMG00000151901 uc032ngu.2 NM_001145710 "CCDS74491|CCDS77387" P0C875 MGI:2442121 RGD:2324744 HGNC:24736 "ENST00000615575.5|NM_001145710.2" +HGNC:24736 FAM228B family with sequence similarity 228 member B protein-coding gene gene with protein product Approved 2p23.3 02p23.3 family with sequence similarity 228, member B 2012-07-04 2015-11-18 2023-01-20 375190 ENSG00000219626 OTTHUMG00000151901 uc032ngu.2 NM_001145710 "CCDS77387|CCDS74491" P0C875 MGI:2442121 RGD:2324744 HGNC:24736 "ENST00000615575.5|NM_001145710.2" HGNC:44652 FAM229A family with sequence similarity 229 member A protein-coding gene gene with protein product Approved 1p35.1 01p35.1 family with sequence similarity 229, member A 2012-12-12 2015-11-18 2023-01-20 100128071 ENSG00000225828 OTTHUMG00000007587 uc021oku.1 NM_001167676 CCDS57985 H3BQW9 MGI:1915483 RGD:1564163 HGNC:44652 "ENST00000432622.2|NM_001167676.2" HGNC:33858 FAM229B family with sequence similarity 229 member B protein-coding gene gene with protein product Approved 6q21 06q21 "DKFZp586F0922|LOC619208" C6orf225 "chromosome 6 open reading frame 225|family with sequence similarity 229, member B" 2008-07-17 2012-12-12 2015-11-18 2023-01-20 619208 ENSG00000203778 OTTHUMG00000015383 uc003pvs.4 NM_001033564 CCDS34513 Q4G0N7 MGI:1913587 RGD:2300149 HGNC:33858 "ENST00000368656.7|NM_001033564.3" HGNC:45045 FAM230A family with sequence similarity 230 member A non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 DGCR15 family with sequence similarity 230, member A "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2013-01-21 2015-11-18 2018-08-03 653203 ENSG00000277870 OTTHUMG00000189114 uc062bir.1 JX456222 NR_136560 29668722 HGNC:45045 @@ -8845,7 +8846,7 @@ HGNC:52446 FAM230I family with sequence similarity 230 member I non-coding RNA R HGNC:52448 FAM230J family with sequence similarity 230 member J non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 LINC01660 long intergenic non-protein coding RNA 1660 "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2016-11-07 2018-08-08 2018-08-08 2018-08-08 729461 ENSG00000274044 OTTHUMG00000188347 NR_136569 29668722 HGNC:52448 HGNC:14163 FAM234A family with sequence similarity 234 member A protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "DKFZP761D0211|FLJ32603" "C16orf9|ITFG3" "chromosome 16 open reading frame 9|integrin alpha FG-GAP repeat containing 3|family with sequence similarity 234, member A" 2000-12-21 2015-08-13 2015-11-18 2023-01-20 83986 ENSG00000167930 OTTHUMG00000060728 AL136542 NM_032039 CCDS10402 Q9H0X4 MGI:2146854 RGD:1311484 HGNC:14163 "ENST00000399932.8|NM_032039.4" HGNC:29288 FAM234B family with sequence similarity 234 member B protein-coding gene gene with protein product Approved 12p13.1 12p13.1 KIAA1467 "KIAA1467|family with sequence similarity 234, member B" 2006-01-23 2015-08-13 2015-11-18 2023-01-20 57613 ENSG00000084444 OTTHUMG00000168774 AB040900 NM_020853 CCDS31750 A2RU67 10819331 MGI:1921775 RGD:1306151 617838 HGNC:29288 "ENST00000197268.13|NM_020853.2" -HGNC:44268 FAM236A family with sequence similarity 236 member A protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "DMRTC1-AS1|LINC00684" "DMRTC1 antisense RNA 1 (non-protein coding)|DMRTC1 antisense RNA 1|long intergenic non-protein coding RNA 684" 2012-08-02 2016-11-18 2022-12-09 2023-01-20 100129407 ENSG00000275520 OTTHUMG00000188527 uc064zyc.1 NM_001348071 "CCDS87765|CCDS87766" A0A1B0GUQ0 "MGI:1916638|MGI:1922693|MGI:3645559|MGI:3782053" HGNC:44268 "ENST00000611003.2|NM_001348070.2" +HGNC:44268 FAM236A family with sequence similarity 236 member A protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "DMRTC1-AS1|LINC00684" "DMRTC1 antisense RNA 1 (non-protein coding)|DMRTC1 antisense RNA 1|long intergenic non-protein coding RNA 684" 2012-08-02 2016-11-18 2022-12-09 2023-01-20 100129407 ENSG00000275520 OTTHUMG00000188527 uc064zyc.1 NM_001348071 "CCDS87766|CCDS87765" A0A1B0GUQ0 "MGI:1916638|MGI:1922693|MGI:3645559|MGI:3782053" HGNC:44268 "ENST00000611003.2|NM_001348070.2" HGNC:52640 FAM236B family with sequence similarity 236 member B protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2017-01-05 2017-01-23 2023-01-20 100132304 ENSG00000268994 OTTHUMG00000188221 NM_001348072 CCDS87760 A0A1B0GV22 "MGI:1916638|MGI:1922693|MGI:3645559|MGI:3782053" HGNC:52640 "ENST00000596535.3|NM_001348072.1" HGNC:52641 FAM236C family with sequence similarity 236 member C protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2017-01-06 2017-01-23 2023-01-20 109729126 ENSG00000283594 OTTHUMG00000191677 NM_001351111 P0DP71 "MGI:1922693|MGI:3645559" HGNC:52641 "ENST00000636267.1|NM_001351111.1" HGNC:52642 FAM236D family with sequence similarity 236 member D protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2017-01-06 2017-01-23 2023-01-20 105373251 ENSG00000225396 OTTHUMG00000021819 NM_001348202 "CCDS87761|CCDS87762" A0A1B0GTK5 "MGI:1922693|MGI:3645559" RGD:1564177 HGNC:52642 "ENST00000419795.6|NM_001348203.1" @@ -8878,45 +8879,45 @@ HGNC:54927 FAM247B family with sequence similarity 247 member B non-coding RNA R HGNC:54928 FAM247C family with sequence similarity 247 member C non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long non-coding RNAs with FAM root symbol 1993 2020-04-30 2020-04-30 105377182 XR_937989 32214344 HGNC:54929 FAM247D family with sequence similarity 247 member D non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long non-coding RNAs with FAM root symbol 1993 2020-04-30 2020-04-30 105372942 XR_951230 32214344 HGNC:29170 FAN1 FANCD2 and FANCI associated nuclease 1 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "KIAA1018|MTMR15" "KIAA1018|myotubularin related protein 15|FANCD2/FANCI-associated nuclease 1" 2005-10-28 2010-08-04 2016-12-21 2023-01-20 22909 ENSG00000198690 OTTHUMG00000175661 uc001zff.4 NM_014967 "CCDS58344|CCDS32186" Q9Y2M0 "20603015|20603016|20603073" MGI:3045266 RGD:1566323 613534 308114 HGNC:29170 "ENST00000362065.9|NM_014967.5" HGNC:29170 -HGNC:3582 FANCA FA complementation group A protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "FAA|FA-H|FAH" "FACA|FANCH" Fanconi anemia complementation group A "FA complementation groups|FA core complex" "548|1751" 1995-12-22 2018-05-09 2023-01-20 2175 ENSG00000187741 OTTHUMG00000173049 uc002fou.2 Z83067 NM_000135 "CCDS86554|CCDS32515|CCDS42221|CCDS67099" O15360 "7581462|9382107" MGI:1341823 RGD:1311380 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCA|LRG_495|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_495.xml" FANCA 607139 121693 HGNC:3582 "ENST00000389301.8|NM_000135.4" HGNC:3582 -HGNC:3583 FANCB FA complementation group B protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "FAB|FLJ34064|FAAP95" Fanconi anemia complementation group B "FA complementation groups|FA core complex" "548|1751" 1998-08-26 2018-05-09 2023-01-20 2187 ENSG00000181544 OTTHUMG00000021168 uc004cwh.2 AK091383 NM_152633 "CCDS94554|CCDS14161" Q8NB91 "9382107|15502827" MGI:2448558 RGD:1561555 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCB|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCB|LRG_496|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_496.xml" 300515 121700 HGNC:3583 "ENST00000650831.1|NM_001018113.3" HGNC:3583 +HGNC:3582 FANCA FA complementation group A protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "FAA|FA-H|FAH" "FACA|FANCH" Fanconi anemia complementation group A "FA complementation groups|FA core complex" "548|1751" 1995-12-22 2018-05-09 2023-01-20 2175 ENSG00000187741 OTTHUMG00000173049 uc002fou.2 Z83067 NM_000135 "CCDS42221|CCDS67099|CCDS86554|CCDS32515" O15360 "7581462|9382107" MGI:1341823 RGD:1311380 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCA|LRG_495|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_495.xml" FANCA 607139 121693 HGNC:3582 "ENST00000389301.8|NM_000135.4" HGNC:3582 +HGNC:3583 FANCB FA complementation group B protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "FAB|FLJ34064|FAAP95" Fanconi anemia complementation group B "FA complementation groups|FA core complex" "548|1751" 1998-08-26 2018-05-09 2023-01-20 2187 ENSG00000181544 OTTHUMG00000021168 uc004cwh.2 AK091383 NM_152633 "CCDS14161|CCDS94554" Q8NB91 "9382107|15502827" MGI:2448558 RGD:1561555 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCB|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCB|LRG_496|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_496.xml" 300515 121700 HGNC:3583 "ENST00000650831.1|NM_001018113.3" HGNC:3583 HGNC:3584 FANCC FA complementation group C protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "FAC|FA3" FACC Fanconi anemia complementation group C "FA complementation groups|FA core complex" "548|1751" 1992-11-25 2018-05-09 2023-01-20 2176 ENSG00000158169 OTTHUMG00000020279 uc004avh.4 BC006303 NM_000136 "CCDS75861|CCDS35071" Q00597 1303234 MGI:95480 RGD:2593 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCC|LRG_497|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_497.xml" FANCC 613899 121705 HGNC:3584 "ENST00000289081.8|NM_000136.3" HGNC:3584 -HGNC:3585 FANCD2 FA complementation group D2 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "FAD|FA-D2" "FACD|FANCD" Fanconi anemia complementation group D2 "FA complementation groups|Armadillo like helical domain containing" "548|1492" 1996-01-04 2001-10-05 2018-05-09 2023-01-20 2177 ENSG00000144554 OTTHUMG00000128670 uc003buw.4 AF340183 NM_001018115 "CCDS33696|CCDS2595" Q9BXW9 "7581463|11239453|18475298" MGI:2448480 RGD:1303172 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCD2|LRG_306|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_306.xml" FANCD2 613984 121709 HGNC:3585 "ENST00000675286.1|NM_001018115.3" HGNC:3585 +HGNC:3585 FANCD2 FA complementation group D2 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "FAD|FA-D2" "FACD|FANCD" Fanconi anemia complementation group D2 "FA complementation groups|Armadillo like helical domain containing" "548|1492" 1996-01-04 2001-10-05 2018-05-09 2023-01-20 2177 ENSG00000144554 OTTHUMG00000128670 uc003buw.4 AF340183 NM_001018115 "CCDS2595|CCDS33696" Q9BXW9 "7581463|11239453|18475298" MGI:2448480 RGD:1303172 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCD2|LRG_306|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_306.xml" FANCD2 613984 121709 HGNC:3585 "ENST00000675286.1|NM_001018115.3" HGNC:3585 HGNC:28623 FANCD2OS FANCD2 opposite strand protein-coding gene gene with protein product Approved 3p25.3 03p25.3 MGC40179 C3orf24 chromosome 3 open reading frame 24 2005-11-03 2012-11-12 2012-11-12 2023-01-20 115795 ENSG00000163705 OTTHUMG00000128669 uc003buz.3 AF230334 NM_173472 CCDS2596 Q96PS1 12477932 MGI:1918229 RGD:1565997 HGNC:28623 "ENST00000450660.3|NM_001164839.2" HGNC:44487 FANCD2P1 FANCD2 pseudogene 1 pseudogene pseudogene Approved 3p25.3 03p25.3 Fanconi anemia complementation group D2 pseudogene 1 2012-11-12 2018-05-09 2018-05-09 100421239 NG_025673 PGOHUM00000299338 HGNC:44487 HGNC:44488 FANCD2P2 FANCD2 pseudogene 2 pseudogene pseudogene Approved 3p25.2 03p25.2 Fanconi anemia complementation group D2 pseudogene 2 2012-11-12 2018-05-09 2018-05-09 101929530 ENSG00000230342 OTTHUMG00000155298 NG_055546 PGOHUM00000299341 HGNC:44488 HGNC:3586 FANCE FA complementation group E protein-coding gene gene with protein product Approved 6p21.31 06p21.31 FAE FACE Fanconi anemia complementation group E "FA complementation groups|FA core complex" "548|1751" 1996-04-09 2018-05-09 2023-01-20 2178 ENSG00000112039 OTTHUMG00000014565 uc003oko.2 AF265210 NM_001410876 "CCDS4805|CCDS93899" Q9HB96 "7662964|11001585" MGI:1920025 RGD:1561045 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCE|LRG_498|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_498.xml" FANCE 613976 121715 HGNC:3586 "ENST00000229769.3|NM_021922.3" HGNC:3586 HGNC:3587 FANCF FA complementation group F protein-coding gene gene with protein product Approved 11p14.3 11p14.3 FAF Fanconi anemia complementation group F "FA complementation groups|FA core complex" "548|1751" 1998-08-26 2018-05-09 2023-01-20 2188 ENSG00000183161 OTTHUMG00000166070 uc001mql.2 NM_022725 CCDS7857 Q9NPI8 9382107 MGI:3689889 RGD:1561456 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCF|LRG_527|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_527.xml" FANCF 613897 121719 HGNC:3587 "ENST00000327470.6|NM_022725.4" HGNC:3587 HGNC:3588 FANCG FA complementation group G protein-coding gene gene with protein product Approved 9p13.3 09p13.3 FAG "DNA repair protein XRCC9|X-ray repair, complementing defective, in Chinese hamster, 9|X-ray repair complementing defective repair in Chinese hamster cells 9" XRCC9 Fanconi anemia complementation group G "FA complementation groups|FA core complex" "548|1751" 1998-08-26 2018-05-09 2023-01-20 2189 ENSG00000221829 OTTHUMG00000019850 uc003zwb.1 AJ007669 NM_004629 CCDS6574 O15287 "9256465|9382107" MGI:1926471 RGD:1587477 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCG|LRG_499|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_499.xml" FANCG 602956 121722 HGNC:3588 "ENST00000378643.8|NM_004629.2" HGNC:3588 -HGNC:25568 FANCI FA complementation group I protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FLJ10719 KIAA1794 "KIAA1794|Fanconi anemia complementation group I" FA complementation groups 548 2005-10-25 2007-05-03 2018-05-09 2023-01-20 55215 ENSG00000140525 OTTHUMG00000132993 uc010bnp.2 BC004277 NM_018193 "CCDS45346|CCDS92061|CCDS10349" Q9NVI1 "14630800|17460694|17412408" MGI:2384790 RGD:2321863 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCI|LRG_500|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_500.xml" 611360 138447 HGNC:25568 "ENST00000310775.12|NM_001113378.2" HGNC:25568 -HGNC:20748 FANCL FA complementation group L protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "FLJ10335|FAAP43|Pog" PHF9 "PHD finger protein 9|Fanconi anemia complementation group L" "PHD finger proteins|FA complementation groups|FA core complex" "88|548|1751" 2003-05-22 2003-10-15 2018-05-09 2023-01-20 55120 ENSG00000115392 OTTHUMG00000129349 uc002rzw.5 AK001197 NM_018062 "CCDS46294|CCDS92759|CCDS92760|CCDS1860" Q9NW38 MGI:1914280 RGD:1311427 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCL|LRG_501|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_501.xml" 608111 121726 HGNC:20748 "ENST00000233741.9|NM_018062.4" HGNC:20748 -HGNC:23168 FANCM FA complementation group M protein-coding gene gene with protein product Approved 14q21.2 14q21.2 FAAP250 KIAA1596 "KIAA1596|Fanconi anemia complementation group M" "FA complementation groups|RNA helicases|FA core complex" "548|1168|1751" 2003-11-21 2005-09-01 2018-05-09 2023-01-20 57697 ENSG00000187790 OTTHUMG00000170807 uc001wwd.5 AK001672 NM_020937 "CCDS32070|CCDS76677|CCDS81802" Q8IYD8 "10997877|16116422" MGI:2442306 RGD:1307897 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCM|LRG_502|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_502.xml" 609644 121730 HGNC:23168 "ENST00000267430.10|NM_020937.4" HGNC:23168 +HGNC:25568 FANCI FA complementation group I protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FLJ10719 KIAA1794 "KIAA1794|Fanconi anemia complementation group I" FA complementation groups 548 2005-10-25 2007-05-03 2018-05-09 2023-01-20 55215 ENSG00000140525 OTTHUMG00000132993 uc010bnp.2 BC004277 NM_018193 "CCDS92061|CCDS10349|CCDS45346" Q9NVI1 "14630800|17460694|17412408" MGI:2384790 RGD:2321863 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCI|LRG_500|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_500.xml" 611360 138447 HGNC:25568 "ENST00000310775.12|NM_001113378.2" HGNC:25568 +HGNC:20748 FANCL FA complementation group L protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "FLJ10335|FAAP43|Pog" PHF9 "PHD finger protein 9|Fanconi anemia complementation group L" "PHD finger proteins|FA complementation groups|FA core complex" "88|548|1751" 2003-05-22 2003-10-15 2018-05-09 2023-01-20 55120 ENSG00000115392 OTTHUMG00000129349 uc002rzw.5 AK001197 NM_018062 "CCDS92760|CCDS46294|CCDS1860|CCDS92759" Q9NW38 MGI:1914280 RGD:1311427 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCL|LRG_501|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_501.xml" 608111 121726 HGNC:20748 "ENST00000233741.9|NM_018062.4" HGNC:20748 +HGNC:23168 FANCM FA complementation group M protein-coding gene gene with protein product Approved 14q21.2 14q21.2 FAAP250 KIAA1596 "KIAA1596|Fanconi anemia complementation group M" "FA complementation groups|RNA helicases|FA core complex" "548|1168|1751" 2003-11-21 2005-09-01 2018-05-09 2023-01-20 57697 ENSG00000187790 OTTHUMG00000170807 uc001wwd.5 AK001672 NM_020937 "CCDS81802|CCDS76677|CCDS32070" Q8IYD8 "10997877|16116422" MGI:2442306 RGD:1307897 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCM|LRG_502|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_502.xml" 609644 121730 HGNC:23168 "ENST00000267430.10|NM_020937.4" HGNC:23168 HGNC:23527 FANK1 fibronectin type III and ankyrin repeat domains 1 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 fibronectin type 3 and ankyrin repeat domains 1 "Ankyrin repeat domain containing|Fibronectin type III domain containing" "403|555" 2003-11-21 2005-03-01 2023-03-15 92565 ENSG00000203780 OTTHUMG00000019241 uc001ljh.5 BC024189 NM_145235 CCDS31309 Q8TC84 17604233 MGI:1914180 RGD:1304756 611640 HGNC:23527 "ENST00000368693.6|NM_145235.5" HGNC:43915 FANK1-AS1 FANK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.2 10q26.2 FANK1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-03 2012-08-15 2012-10-12 101410540 ENSG00000233409 OTTHUMG00000019239 uc057wsz.1 AW080472 NR_102707 FANK1-AS1 HGNC:43915 -HGNC:3590 FAP fibroblast activation protein alpha protein-coding gene gene with protein product Approved 2q24.2 02q24.2 DPPIV seprase fibroblast activation protein, alpha DASH family 1205 1995-03-28 2015-11-05 2023-01-20 2191 ENSG00000078098 OTTHUMG00000153890 uc002ucd.3 U09278 NM_001291807 "CCDS77480|CCDS33311" Q12884 "9247085|14707457" MGI:109608 RGD:621253 600403 S09.007 objectId:2365 HGNC:3590 "ENST00000188790.9|NM_004460.5" +HGNC:3590 FAP fibroblast activation protein alpha protein-coding gene gene with protein product Approved 2q24.2 02q24.2 DPPIV seprase fibroblast activation protein, alpha DASH family 1205 1995-03-28 2015-11-05 2023-01-20 2191 ENSG00000078098 OTTHUMG00000153890 uc002ucd.3 U09278 NM_001291807 "CCDS33311|CCDS77480" Q12884 "9247085|14707457" MGI:109608 RGD:621253 600403 S09.007 objectId:2365 HGNC:3590 "ENST00000188790.9|NM_004460.5" HGNC:26222 FAR1 fatty acyl-CoA reductase 1 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "FLJ22728|SDR10E1" short chain dehydrogenase/reductase family 10E, member 1 MLSTD2 male sterility domain containing 2 Short chain dehydrogenase/reductase superfamily 743 2004-03-01 2008-06-06 2015-11-11 2023-01-20 84188 ENSG00000197601 OTTHUMG00000165743 uc001mld.4 AK026381 NM_032228 CCDS7813 Q8WVX9 "15220348|15220349|19027726" MGI:1914670 RGD:1306647 616107 446846 1.2.1.- HGNC:26222 "ENST00000354817.8|NM_032228.6" HGNC:26222 HGNC:41485 FAR1-IT1 FAR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 11p15.3 11p15.3 FAR1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2016-10-05 106478978 ENSG00000254791 OTTHUMG00000165788 uc057zhc.1 FAR1-IT1 HGNC:39675 FAR1P1 fatty acyl-CoA reductase 1 pseudogene 1 pseudogene pseudogene Approved 13q31.3 13q31.3 2011-03-22 2015-11-11 2015-11-11 100128011 ENSG00000235879 OTTHUMG00000017182 NG_021972 PGOHUM00000248661 HGNC:39675 -HGNC:25531 FAR2 fatty acyl-CoA reductase 2 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "FLJ10462|SDR10E2" short chain dehydrogenase/reductase family 10E, member 2 MLSTD1 male sterility domain containing 1 Short chain dehydrogenase/reductase superfamily 743 2004-03-01 2008-06-06 2015-11-11 2023-01-20 55711 ENSG00000064763 OTTHUMG00000169320 uc001ris.6 AL136843 NM_018099 "CCDS61084|CCDS8717" Q96K12 "15220348|15220349|19027726" MGI:2687035 RGD:1565966 616156 1.2.1.- HGNC:25531 "ENST00000536681.8|NM_001271783.2" +HGNC:25531 FAR2 fatty acyl-CoA reductase 2 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "FLJ10462|SDR10E2" short chain dehydrogenase/reductase family 10E, member 2 MLSTD1 male sterility domain containing 1 Short chain dehydrogenase/reductase superfamily 743 2004-03-01 2008-06-06 2015-11-11 2023-01-20 55711 ENSG00000064763 OTTHUMG00000169320 uc001ris.6 AL136843 NM_018099 "CCDS8717|CCDS61084" Q96K12 "15220348|15220349|19027726" MGI:2687035 RGD:1565966 616156 1.2.1.- HGNC:25531 "ENST00000536681.8|NM_001271783.2" HGNC:49284 FAR2P1 fatty acyl-CoA reductase 2 pseudogene 1 pseudogene pseudogene Approved 2q21.1 02q21.1 LOC440905 2013-10-15 2015-11-11 2015-11-11 440905 ENSG00000180178 OTTHUMG00000153562 NR_026758 25085781 PGOHUM00000240292 HGNC:49284 HGNC:49279 FAR2P2 fatty acyl-CoA reductase 2 pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2015-11-11 2015-11-11 100216479 ENSG00000178162 OTTHUMG00000153927 NR_046258 PGOHUM00000240300 HGNC:49279 HGNC:49285 FAR2P3 fatty acyl-CoA reductase 2 pseudogene 3 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2015-11-11 2015-11-11 100288897 ENSG00000240253 OTTHUMG00000154049 NG_052639 PGOHUM00000240935 HGNC:49285 HGNC:49286 FAR2P4 fatty acyl-CoA reductase 2 pseudogene 4 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2015-11-11 2017-09-28 100420005 ENSG00000231431 OTTHUMG00000153559 NG_023727 PGOHUM00000240939 HGNC:49286 HGNC:3591 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 protein-coding gene gene with protein product Approved 13q32.2 13q32.2 "CDEP|PLEKHC2|MGC87400|PPP1R75|GLCC1" "protein phosphatase 1, regulatory subunit 75|glycolysis-associated lncRNA of colorectal cancer" FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) "Pleckstrin homology domain containing|Protein phosphatase 1 regulatory subunits|Dbl family Rho GEFs|FERM domain containing|MicroRNA protein coding host genes" "682|694|722|1293|1691" 2000-04-12 2015-11-09 2023-01-20 10160 ENSG00000152767 OTTHUMG00000017248 uc001vnj.5 AB008430 NM_005766 "CCDS32000|CCDS9487|CCDS66572" Q9Y4F1 9425278 MGI:2446173 RGD:1305346 602654 HGNC:3591 "ENST00000319562.11|NM_005766.4" -HGNC:40229 FARP1-AS1 FARP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.2 13q32.2 FARP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874080 ENSG00000231194 OTTHUMG00000017247 uc058xxv.1 FARP1-AS1 -HGNC:16460 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "KIAA0793|FIR|PLEKHC3|FRG" FERM, RhoGEF and pleckstrin domain protein 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs|FERM domain containing|MicroRNA protein coding host genes" "682|722|1293|1691" 2002-11-29 2015-11-09 2023-01-20 9855 ENSG00000006607 OTTHUMG00000151574 uc002wbi.4 AB018336 NM_001282983 "CCDS33424|CCDS63198|CCDS63197" O94887 "9872452|12351724" MGI:2385126 RGD:1308003 617586 HGNC:16460 "ENST00000264042.8|NM_014808.4" +HGNC:40229 FARP1-AS1 FARP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.2 13q32.2 FARP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874080 ENSG00000231194 OTTHUMG00000017247 uc058xxv.1 NR_046595 FARP1-AS1 +HGNC:16460 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "KIAA0793|FIR|PLEKHC3|FRG" FERM, RhoGEF and pleckstrin domain protein 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs|FERM domain containing|MicroRNA protein coding host genes" "682|722|1293|1691" 2002-11-29 2015-11-09 2023-01-20 9855 ENSG00000006607 OTTHUMG00000151574 uc002wbi.4 AB018336 NM_001282983 "CCDS63198|CCDS33424|CCDS63197" O94887 "9872452|12351724" MGI:2385126 RGD:1308003 617586 HGNC:16460 "ENST00000264042.8|NM_014808.4" HGNC:21062 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "dJ236A3.1|mtPheRS" phenylalanine tRNA ligase 2, mitochondrial FARS1 phenylalanine-tRNA synthetase 1 (mitochondrial) Aminoacyl tRNA synthetases, Class II 132 2003-05-13 2004-12-03 2007-02-23 2023-01-20 10667 ENSG00000145982 OTTHUMG00000014178 uc010jnv.2 AF097441 NM_006567 CCDS4494 O95363 10329163 MGI:1917205 RGD:1309416 611592 315385 6.1.1.20 HGNC:21062 "ENST00000274680.9|NM_006567.5" HGNC:21062 HGNC:56121 FARS2-AS1 FARS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.1 06p25.1 Antisense RNAs 1987 2022-01-07 2022-01-07 101927972 ENSG00000269985 NR_125846 HGNC:3592 FARSA phenylalanyl-tRNA synthetase subunit alpha protein-coding gene gene with protein product Approved 19p13.13 19p13.13 CML33 phenylalanine tRNA ligase 1, alpha, cytoplasmic "FARSL|FARSLA" "phenylalanine-tRNA synthetase-like|phenylalanyl-tRNA synthetase-like, alpha subunit" Aminoacyl tRNA synthetases, Class II 132 1997-07-07 2007-02-23 2018-04-23 2023-01-20 2193 ENSG00000179115 OTTHUMG00000180569 uc002mvs.3 U07424 NM_004461 CCDS12287 Q9Y285 9177188 MGI:1913840 RGD:1310314 602918 6.1.1.20 HGNC:3592 "ENST00000314606.9|NM_004461.3" HGNC:3592 HGNC:50479 FARSA-AS1 FARSA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.13 19p13.13 Antisense RNAs 1987 2014-05-06 2016-10-05 106144598 ENSG00000266975 OTTHUMG00000180573 AW881480 NR_149078 FARSA-AS1 HGNC:50479 HGNC:17800 FARSB phenylalanyl-tRNA synthetase subunit beta protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "PheHB|FRSB" phenylalanine tRNA ligase 1, beta, cytoplasmic FARSLB phenylalanyl-tRNA synthetase-like, beta subunit Aminoacyl tRNA synthetases, Class II 132 2004-01-05 2007-02-23 2018-04-23 2023-01-20 10056 ENSG00000116120 OTTHUMG00000133155 uc002vne.2 AF042346 NM_005687 CCDS2454 Q9NSD9 10049785 MGI:1346035 RGD:1303210 609690 6.1.1.20 HGNC:17800 "ENST00000281828.8|NM_005687.5" HGNC:17800 HGNC:45115 FARSBP1 FARSB pseudogene 1 pseudogene pseudogene Approved 10q23.1 10q23.1 phenylalanyl-tRNA synthetase beta subunit pseudogene 1 2013-02-15 2018-04-23 2018-04-23 647532 ENSG00000231060 OTTHUMG00000018621 NG_005861 PGOHUM00000289931 HGNC:45115 -HGNC:11920 FAS Fas cell surface death receptor protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "CD95|APO-1" TNF receptor superfamily member 6 "FAS1|APT1|TNFRSF6" "tumor necrosis factor receptor superfamily, member 6|Fas (TNF receptor superfamily, member 6)" "CD molecules|Tumor necrosis factor receptor superfamily|Death inducing signaling complex " "471|782|1342" 1992-06-25 2005-01-07 2013-05-22 2023-03-15 355 ENSG00000026103 OTTHUMG00000018701 uc001kfr.4 M67454 NM_000043 "CCDS91297|CCDS91296|CCDS7394|CCDS7393|CCDS7395" P25445 "1385299|1385309" MGI:95484 RGD:619831 "Autoimmune Lymphoproliferative Syndrome Database (ALPSbase): Database of mutations causing human ALPS|http://research.nhgri.nih.gov/ALPS/|LOVD at NCBI|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=FAS|LRG_134|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_134.xml" FAS 134637 121733 objectId:1875 CD95 HGNC:11920 "ENST00000652046.1|NM_000043.6" HGNC:11920 +HGNC:11920 FAS Fas cell surface death receptor protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "CD95|APO-1" TNF receptor superfamily member 6 "FAS1|APT1|TNFRSF6" "tumor necrosis factor receptor superfamily, member 6|Fas (TNF receptor superfamily, member 6)" "CD molecules|Tumor necrosis factor receptor superfamily|Death inducing signaling complex " "471|782|1342" 1992-06-25 2005-01-07 2013-05-22 2023-03-15 355 ENSG00000026103 OTTHUMG00000018701 uc001kfr.4 M67454 NM_000043 "CCDS7395|CCDS91296|CCDS7393|CCDS7394|CCDS91297" P25445 "1385299|1385309" MGI:95484 RGD:619831 "Autoimmune Lymphoproliferative Syndrome Database (ALPSbase): Database of mutations causing human ALPS|http://research.nhgri.nih.gov/ALPS/|LOVD at NCBI|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=FAS|LRG_134|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_134.xml" FAS 134637 121733 objectId:1875 CD95 HGNC:11920 "ENST00000652046.1|NM_000043.6" HGNC:11920 HGNC:37128 FAS-AS1 FAS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 SAF "FASAS|FAS-AS" "FAS antisense RNA (non-protein coding)|FAS antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-07-16 2010-11-25 2012-08-15 2018-05-02 100302740 uc058vuu.1 NR_028371 "15829500|24811343|27141526" saf HGNC:37128 -HGNC:11936 FASLG Fas ligand protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "FasL|CD178" "APT1LG1|TNFSF6" "tumor necrosis factor (ligand) superfamily, member 6|Fas ligand (TNF superfamily, member 6)" "CD molecules|Tumor necrosis factor superfamily|Death inducing signaling complex " "471|781|1342" 1994-12-09 2005-01-07 2015-11-17 2023-01-20 356 ENSG00000117560 OTTHUMG00000034841 uc001gis.4 U11821 NM_000639 "CCDS1304|CCDS76243" P48023 "7826947|9022072" MGI:99255 RGD:3880 "FASLGbase: Mutation registry for Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base)|http://structure.bmc.lu.se/idbase/FASLGbase/|LRG_58|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_58.xml" 134638 121740 ligandId:5078 CD178 HGNC:11936 "ENST00000367721.3|NM_000639.3" HGNC:11936 +HGNC:11936 FASLG Fas ligand protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "FasL|CD178" "APT1LG1|TNFSF6" "tumor necrosis factor (ligand) superfamily, member 6|Fas ligand (TNF superfamily, member 6)" "CD molecules|Tumor necrosis factor superfamily|Death inducing signaling complex " "471|781|1342" 1994-12-09 2005-01-07 2015-11-17 2023-01-20 356 ENSG00000117560 OTTHUMG00000034841 uc001gis.4 U11821 NM_000639 "CCDS76243|CCDS1304" P48023 "7826947|9022072" MGI:99255 RGD:3880 "FASLGbase: Mutation registry for Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base)|http://structure.bmc.lu.se/idbase/FASLGbase/|LRG_58|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_58.xml" 134638 121740 ligandId:5078 CD178 HGNC:11936 "ENST00000367721.3|NM_000639.3" HGNC:11936 HGNC:3594 FASN fatty acid synthase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FAS|SDR27X1" "short chain dehydrogenase/reductase family 27X, member 1|[Acyl-carrier-protein] S-acetyltransferase|[Acyl-carrier-protein] S-malonyltransferase|3-oxoacyl-[acyl-carrier-protein] synthase|3-oxoacyl-[acyl-carrier-protein] reductase|3-hydroxyacyl-[acyl-carrier-protein] dehydratase|Enoyl-[acyl-carrier-protein] reductase|Acyl-[acyl-carrier-protein] hydrolase" "Short chain dehydrogenase/reductase superfamily|7BS orphan methyltransferases" "743|2066" 1994-05-17 2023-01-20 2194 ENSG00000169710 OTTHUMG00000178527 uc002kdu.5 U26644 NM_004104 CCDS11801 P49327 "7835891|7567999|19027726|33973101" MGI:95485 RGD:620665 600212 470316 objectId:2608 2.3.1.85 HGNC:3594 "ENST00000306749.4|NM_004104.5" -HGNC:24676 FASTK Fas activated serine/threonine kinase protein-coding gene gene with protein product Approved 7q36.1 07q36.1 FAST Fas-activated serine/threonine kinase FASTK mitochondrial RNA binding family 1538 2005-04-05 2016-02-03 2023-01-20 10922 ENSG00000164896 OTTHUMG00000158694 uc003wix.3 NM_006712 "CCDS59088|CCDS5919|CCDS5918" Q14296 "7544399|15572676" MGI:1913837 RGD:1311601 606965 HGNC:24676 "ENST00000297532.11|NM_006712.5" -HGNC:26150 FASTKD1 FAST kinase domains 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 FLJ21901 FASTK mitochondrial RNA binding family 1538 2006-07-07 2023-01-20 79675 ENSG00000138399 OTTHUMG00000154953 uc002uev.6 AL832058 NM_024622 "CCDS33318|CCDS63051" Q53R41 11347906 MGI:2444596 RGD:1563531 617529 HGNC:26150 "ENST00000453153.7|NM_024622.6" +HGNC:24676 FASTK Fas activated serine/threonine kinase protein-coding gene gene with protein product Approved 7q36.1 07q36.1 FAST Fas-activated serine/threonine kinase FASTK mitochondrial RNA binding family 1538 2005-04-05 2016-02-03 2023-01-20 10922 ENSG00000164896 OTTHUMG00000158694 uc003wix.3 NM_006712 "CCDS59088|CCDS5918|CCDS5919" Q14296 "7544399|15572676" MGI:1913837 RGD:1311601 606965 HGNC:24676 "ENST00000297532.11|NM_006712.5" +HGNC:26150 FASTKD1 FAST kinase domains 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 FLJ21901 FASTK mitochondrial RNA binding family 1538 2006-07-07 2023-01-20 79675 ENSG00000138399 OTTHUMG00000154953 uc002uev.6 AL832058 NM_024622 "CCDS63051|CCDS33318" Q53R41 11347906 MGI:2444596 RGD:1563531 617529 HGNC:26150 "ENST00000453153.7|NM_024622.6" HGNC:29160 FASTKD2 FAST kinase domains 2 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 KIAA0971 KIAA0971 "FASTK mitochondrial RNA binding family|MicroRNA protein coding host genes" "1538|1691" 2004-06-28 2006-07-07 2006-07-07 2023-01-20 22868 ENSG00000118246 OTTHUMG00000132917 uc002vbv.4 BC001544 NM_014929 CCDS2371 Q9NYY8 MGI:1922869 RGD:1307883 612322 168272 HGNC:29160 "ENST00000402774.8|NM_001136193.2" HGNC:29160 HGNC:28758 FASTKD3 FAST kinase domains 3 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 "MGC5297|FLJ23274" FASTK mitochondrial RNA binding family 1538 2006-07-07 2023-01-20 79072 ENSG00000124279 OTTHUMG00000131029 uc003jeb.4 AK026927 NM_024091 CCDS3873 Q14CZ7 27789713 MGI:1916827 RGD:1309729 617530 HGNC:28758 "ENST00000264669.10|NM_024091.4" HGNC:25790 FASTKD5 FAST kinase domains 5 protein-coding gene gene with protein product Approved 20p13 20p13 FLJ13149 FASTK mitochondrial RNA binding family 1538 2006-07-07 2023-01-20 60493 ENSG00000215251 OTTHUMG00000031727 uc002whz.5 BC007413 NM_021826 CCDS13048 Q7L8L6 11347906 MGI:2139469 RGD:1563839 614272 HGNC:25790 "ENST00000380266.4|NM_021826.5" @@ -8934,16 +8935,16 @@ HGNC:56253 FAUP4 FAU pseudogene 4 pseudogene pseudogene Approved 11q13.1 11q13.1 HGNC:20742 FAXC failed axon connections homolog, metaxin like GST domain containing protein-coding gene gene with protein product Approved 6q16.2 06q16.2 "MGC2817|dJ273F20" C6orf168 "chromosome 6 open reading frame 168|failed axon connections homolog (Drosophila)|failed axon connections homolog" 2003-06-16 2012-02-07 2019-01-14 2023-01-20 84553 ENSG00000146267 OTTHUMG00000015261 uc003ppj.5 BC011583 NM_032511 CCDS34500 Q5TGI0 8647396 MGI:1923382 RGD:1562449 HGNC:20742 "ENST00000389677.6|NM_032511.4" HGNC:1334 FAXDC2 fatty acid hydroxylase domain containing 2 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 FLJ13758 C5orf4 chromosome 5 open reading frame 4 Fatty acid hydroxylase domain containing 552 1999-07-22 2013-03-04 2013-03-04 2023-01-20 10826 ENSG00000170271 OTTHUMG00000164141 uc003lvs.5 AF159165 NM_032385 CCDS43390 Q96IV6 10843801 MGI:3651124 RGD:1586284 619853 HGNC:1334 "ENST00000326080.10|NM_032385.5" HGNC:1334 HGNC:24674 FBF1 Fas binding factor 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ00103|FBF-1|KIAA1863|ALB" albatross Fas (TNFRSF6) binding factor 1 2004-02-19 2016-04-20 2023-01-20 85302 ENSG00000188878 OTTHUMG00000179919 uc060kfj.1 AK074045 NM_001080542 CCDS45779 Q8TES7 11347906 MGI:1922033 RGD:1310662 616807 HGNC:24674 "ENST00000636174.2|NM_001319193.2" -HGNC:13620 FBH1 F-box DNA helicase 1 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "FLJ14590|Fbx18" FBXO18 "F-box only protein 18|F-box protein, helicase, 18" "F-boxes other|DNA helicases" "560|1167" 2003-06-09 2018-02-07 2018-02-07 2023-01-20 84893 ENSG00000134452 OTTHUMG00000017609 uc001iis.5 AK095343 NM_032807 "CCDS73064|CCDS7072|CCDS7073" Q8NFZ0 "10531037|11956208" MGI:1354699 RGD:1306298 607222 HGNC:13620 "ENST00000362091.9|NM_178150.3" +HGNC:13620 FBH1 F-box DNA helicase 1 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "FLJ14590|Fbx18" FBXO18 "F-box only protein 18|F-box protein, helicase, 18" "F-boxes other|DNA helicases" "560|1167" 2003-06-09 2018-02-07 2018-02-07 2023-01-20 84893 ENSG00000134452 OTTHUMG00000017609 uc001iis.5 AK095343 NM_032807 "CCDS73064|CCDS7073|CCDS7072" Q8NFZ0 "10531037|11956208" MGI:1354699 RGD:1306298 607222 HGNC:13620 "ENST00000362091.9|NM_178150.3" HGNC:3599 FBL fibrillarin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "RNU3IP1|FLRN|FIB|Nop1" "U3 small nucleolar ribonucleoprotein|7BS 2'O-ribose DNA/RNA methyltransferases" "1485|2062" 1991-09-12 2023-01-20 2091 ENSG00000105202 OTTHUMG00000182581 uc002omn.4 AC005393 NM_001436 CCDS12545 P22087 "1846968|2026646" MGI:95486 RGD:1305542 134795 HGNC:3599 "ENST00000221801.8|NM_001436.4" -HGNC:24686 FBLIM1 filamin binding LIM protein 1 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "FBLP-1|CAL|migfilin" LIM domain containing 1218 2005-06-15 2023-01-20 54751 ENSG00000162458 OTTHUMG00000003079 uc001axd.2 NM_001024215 "CCDS30609|CCDS44064|CCDS163" Q8WUP2 "12679033|12496242" MGI:1921452 RGD:1359551 607747 HGNC:24686 "ENST00000375766.8|NM_017556.4" +HGNC:24686 FBLIM1 filamin binding LIM protein 1 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "FBLP-1|CAL|migfilin" LIM domain containing 1218 2005-06-15 2023-01-20 54751 ENSG00000162458 OTTHUMG00000003079 uc001axd.2 NM_001024215 "CCDS163|CCDS44064|CCDS30609" Q8WUP2 "12679033|12496242" MGI:1921452 RGD:1359551 607747 HGNC:24686 "ENST00000375766.8|NM_017556.4" HGNC:55107 FBLIM1P1 FBLIM1 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2020-06-25 2020-11-11 392536 ENSG00000213489 NG_022635 PGOHUM00000304837 HGNC:55108 FBLIM1P2 FBLIM1 pseudogene 2 pseudogene pseudogene Approved 11p11.2 11p11.2 2020-06-25 2020-06-25 401679 ENSG00000254871 NG_021816 HGNC:35458 FBLL1 fibrillarin like 1 protein-coding gene gene with protein product Approved 5q34 05q34 LOC345630 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2009-02-12 2017-05-26 2023-01-20 345630 ENSG00000188573 OTTHUMG00000157012 uc011dep.3 NM_001355274 CCDS87345 A6NHQ2 MGI:3034689 RGD:1562841 HGNC:35458 "ENST00000338333.5|NM_001355274.2" -HGNC:3600 FBLN1 fibulin 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 FBLN Fibulins 556 1994-02-08 2023-01-20 2192 ENSG00000077942 OTTHUMG00000151340 uc003bgj.2 NM_006486 "CCDS14068|CCDS14067|CCDS14069|CCDS43028" P23142 "2269669|1400330" MGI:95487 RGD:1308667 135820 139855 HGNC:3600 "ENST00000327858.11|NM_006486.3" HGNC:3600 +HGNC:3600 FBLN1 fibulin 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 FBLN Fibulins 556 1994-02-08 2023-01-20 2192 ENSG00000077942 OTTHUMG00000151340 uc003bgj.2 NM_006486 "CCDS14069|CCDS14067|CCDS43028|CCDS14068" P23142 "2269669|1400330" MGI:95487 RGD:1308667 135820 139855 HGNC:3600 "ENST00000327858.11|NM_006486.3" HGNC:3600 HGNC:3601 FBLN2 fibulin 2 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 Fibulins 556 1994-02-24 2023-01-20 2199 ENSG00000163520 OTTHUMG00000155437 uc011ava.3 X82494 NM_001004019 "CCDS46762|CCDS46761" P98095 7806230 MGI:95488 RGD:628685 135821 HGNC:3601 "ENST00000404922.8|NM_001004019.2" HGNC:3601 HGNC:3602 FBLN5 fibulin 5 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "EVEC|UP50|DANCE|ARMD3" "embryonic vascular EGF-like repeat-containing protein|developmental arteries and neural crest EGF-like" Fibulins 556 1999-06-25 2023-01-20 10516 ENSG00000140092 OTTHUMG00000171122 uc001xzx.5 AJ133490 NM_001384158 "CCDS9898|CCDS91919" Q9UBX5 10640802 MGI:1346091 RGD:2594 LRG_364|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_364.xml 604580 121746 HGNC:3602 "ENST00000342058.9|NM_006329.4" HGNC:3602 -HGNC:26740 FBLN7 fibulin 7 protein-coding gene gene with protein product Approved 2q13 02q13 "FLJ37440|TM14" "Fibulins|Sushi domain containing" "556|1179" 2007-10-15 2023-01-20 129804 ENSG00000144152 OTTHUMG00000153267 uc002tho.2 NM_153214 "CCDS2095|CCDS46391" Q53RD9 17699513 MGI:1917620 RGD:1310131 611551 470320 HGNC:26740 "ENST00000331203.7|NM_153214.3" +HGNC:26740 FBLN7 fibulin 7 protein-coding gene gene with protein product Approved 2q13 02q13 "FLJ37440|TM14" "Fibulins|Sushi domain containing" "556|1179" 2007-10-15 2023-01-20 129804 ENSG00000144152 OTTHUMG00000153267 uc002tho.2 NM_153214 "CCDS46391|CCDS2095" Q53RD9 17699513 MGI:1917620 RGD:1310131 611551 470320 HGNC:26740 "ENST00000331203.7|NM_153214.3" HGNC:56806 FBLP1 FBL pseudogene 1 pseudogene pseudogene Approved 4q35.1 04q35.1 2023-04-19 2023-04-19 100127981 ENSG00000248376 NG_022042 PGOHUM00000300086 HGNC:3603 FBN1 fibrillin 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "MASS|OCTD|SGS" "Marfan syndrome|asprosin" "FBN|MFS1|WMS" fibrillin 1 (Marfan syndrome) Fibrillins 1888 1987-09-11 2006-04-25 2023-01-20 2200 ENSG00000166147 OTTHUMG00000172218 uc001zwx.3 X63556 NM_000138 CCDS32232 P35555 "10036187|12525539" MGI:95489 RGD:620908 "UMD Locus Specific Databases|http://www.umd.be/|LRG_778|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_778.xml" 134797 121752 ligandId:9200 HGNC:3603 "ENST00000316623.10|NM_000138.5" HGNC:3603 HGNC:55413 FBN1-DT FBN1 divergent transcript non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 Divergent transcripts 1990 2021-01-06 2021-05-24 2021-05-24 105370809 ENSG00000259705 NR_183871 @@ -8953,17 +8954,17 @@ HGNC:3606 FBP1 fructose-bisphosphatase 1 protein-coding gene gene with protein p HGNC:3607 FBP2 fructose-bisphosphatase 2 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 fructose-1,6-bisphosphatase 2 Fructose-1,6-bisphosphatases 1075 1998-12-09 2015-11-27 2023-01-20 8789 ENSG00000130957 OTTHUMG00000020269 uc004auv.5 Y10812 NM_003837 CCDS6711 O00757 9678974 MGI:95491 RGD:620930 603027 3.1.3.11 HGNC:3607 "ENST00000375337.4|NM_003837.4" HGNC:49924 FBP2P1 fructose-bisphosphatase 2 pseudogene 1 pseudogene pseudogene Approved 9q22.1 09q22.1 fructose-1,6-bisphosphatase 2 pseudogene 1 2014-03-21 2018-08-14 2018-08-14 100420269 ENSG00000237743 OTTHUMG00000020158 NG_023842 PGOHUM00000236240 HGNC:49924 HGNC:20442 FBRS fibrosin protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FBS|FLJ11618" FBS1 fibrosin 1 2003-02-11 2007-04-18 2007-04-18 2023-03-15 64319 ENSG00000156860 OTTHUMG00000132390 uc002dzd.4 AK021680 NM_022452 CCDS45462 Q9HAH7 "7892239|9809749" MGI:104648 RGD:1594591 608601 HGNC:20442 "ENST00000356166.11|NM_001105079.3" -HGNC:29308 FBRSL1 fibrosin like 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 KIAA1545 fibrosin-like 1 MicroRNA protein coding host genes 1691 2008-12-09 2016-03-09 2023-01-20 57666 ENSG00000112787 OTTHUMG00000167991 uc001ukf.4 NM_001142641 "CCDS91782|CCDS45010|CCDS91783" Q9HCM7 10997877 MGI:1920907 RGD:1563342 620123 HGNC:29308 "ENST00000680143.1|NM_001367871.1" +HGNC:29308 FBRSL1 fibrosin like 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 KIAA1545 fibrosin-like 1 MicroRNA protein coding host genes 1691 2008-12-09 2016-03-09 2023-01-20 57666 ENSG00000112787 OTTHUMG00000167991 uc001ukf.4 NM_001142641 "CCDS45010|CCDS91782|CCDS91783" Q9HCM7 10997877 MGI:1920907 RGD:1563342 620123 HGNC:29308 "ENST00000680143.1|NM_001367871.1" HGNC:56500 FBRSL1P1 FBRSL1 pseudogene 1 pseudogene pseudogene Approved 3q21.2 03q21.2 2022-10-20 2022-10-20 100533621 ENSG00000241439 NG_028741 PGOHUM00000299575 HGNC:13598 FBXL2 F-box and leucine rich repeat protein 2 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "FBL2|FBL3" F-box and leucine rich repeat proteins 558 2000-09-27 2016-06-06 2023-03-15 25827 ENSG00000153558 OTTHUMG00000130745 uc003cfp.4 AF174589 NM_012157 CCDS2658 Q9UKC9 "10508920|10531035" MGI:1919429 RGD:1562243 605652 HGNC:13598 "ENST00000484457.6|NM_012157.5" HGNC:13599 FBXL3 F-box and leucine rich repeat protein 3 protein-coding gene gene with protein product Approved 13q22.3 13q22.3 "FBL3|FBL3A" FBXL3A F-box and leucine-rich repeat protein 3A F-box and leucine rich repeat proteins 558 2000-09-27 2004-07-21 2016-06-06 2023-01-20 26224 ENSG00000005812 OTTHUMG00000017099 uc001vkd.4 AF129532 NM_012158 CCDS9457 Q9UKT7 "10531035|10828603" MGI:1354702 RGD:1305660 605653 HGNC:13599 "ENST00000355619.10|NM_012158.4" HGNC:13599 HGNC:13601 FBXL4 F-box and leucine rich repeat protein 4 protein-coding gene gene with protein product Approved 6q16.1-q16.2 06q16.1-q16.2 "FBL4|FBL5" F-box and leucine rich repeat proteins 558 2000-09-27 2016-06-06 2023-01-20 26235 ENSG00000112234 OTTHUMG00000015259 uc003ppg.3 AF176699 NM_001278716 CCDS5041 Q9UKA2 10531035 MGI:2140367 RGD:1305724 605654 376502 HGNC:13601 "ENST00000369244.7|NM_001278716.2" HGNC:13601 HGNC:13602 FBXL5 F-box and leucine rich repeat protein 5 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "FBL4|FBL5|FLR1" F-box and leucine rich repeat proteins 558 2000-09-27 2016-06-06 2023-03-15 26234 ENSG00000118564 OTTHUMG00000097097 uc003goc.3 AF174591 NM_001193534 "CCDS3415|CCDS54745" Q9UKA1 10531035 MGI:2152883 RGD:1306887 605655 HGNC:13602 "ENST00000341285.8|NM_012161.4" -HGNC:13603 FBXL6 F-box and leucine rich repeat protein 6 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FBL6 F-box and leucine rich repeat proteins 558 2000-09-27 2016-06-06 2023-01-20 26233 ENSG00000182325 OTTHUMG00000165169 uc003zcb.4 AF174592 NM_024555 "CCDS47942|CCDS6422" Q8N531 "10531035|10531037" MGI:1354705 RGD:1359687 609076 HGNC:13603 "ENST00000331890.6|NM_012162.4" +HGNC:13603 FBXL6 F-box and leucine rich repeat protein 6 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FBL6 F-box and leucine rich repeat proteins 558 2000-09-27 2016-06-06 2023-01-20 26233 ENSG00000182325 OTTHUMG00000165169 uc003zcb.4 AF174592 NM_024555 "CCDS6422|CCDS47942" Q8N531 "10531035|10531037" MGI:1354705 RGD:1359687 609076 HGNC:13603 "ENST00000331890.6|NM_012162.4" HGNC:13604 FBXL7 F-box and leucine rich repeat protein 7 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "KIAA0840|FBL7|FBL6" "F-box and leucine rich repeat proteins|MicroRNA protein coding host genes" "558|1691" 2000-09-27 2016-06-06 2023-01-20 23194 ENSG00000183580 OTTHUMG00000161798 uc003jfn.3 AB020647 NM_012304 "CCDS54833|CCDS64129" Q9UJT9 "10048485|10531035" MGI:3052506 RGD:1305813 605656 HGNC:13604 "ENST00000504595.2|NM_012304.5" HGNC:17875 FBXL8 F-box and leucine rich repeat protein 8 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 Fbl8 F-box and leucine rich repeat proteins 558 2001-12-20 2016-06-06 2023-01-20 55336 ENSG00000135722 OTTHUMG00000137514 uc002erk.2 AK002140 NM_018378 CCDS10831 Q96CD0 MGI:1354697 RGD:1566420 609077 HGNC:17875 "ENST00000258200.8|NM_018378.3" HGNC:13605 FBXL9P F-box and leucine rich repeat protein, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 FBL9 "FBXL9|LRRC29" "F-box and leucine-rich repeat protein 9|leucine rich repeat containing 29|leucine rich repeat containing 29 (pseudogene)" F-box and leucine rich repeat proteins 558 2000-09-27 2022-08-01 2022-08-01 2023-03-15 26231 ENSG00000125122 OTTHUMG00000154403 uc002esg.4 AF176701 NR_172488 10531037 MGI:2443262 RGD:1593150 HGNC:13605 -HGNC:13611 FBXL12 F-box and leucine rich repeat protein 12 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ20188|Fbl12" F-box and leucine rich repeat proteins 558 2003-06-09 2016-06-06 2023-01-20 54850 ENSG00000127452 OTTHUMG00000180212 uc002mme.3 AK000195 NM_017703 "CCDS12218|CCDS82287" Q9NXK8 10531037 MGI:1354738 RGD:1305528 609079 HGNC:13611 "ENST00000247977.9|NM_017703.3" +HGNC:13611 FBXL12 F-box and leucine rich repeat protein 12 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ20188|Fbl12" F-box and leucine rich repeat proteins 558 2003-06-09 2016-06-06 2023-01-20 54850 ENSG00000127452 OTTHUMG00000180212 uc002mme.3 AK000195 NM_017703 "CCDS82287|CCDS12218" Q9NXK8 10531037 MGI:1354738 RGD:1305528 609079 HGNC:13611 "ENST00000247977.9|NM_017703.3" HGNC:54776 FBXL12P1 FBXL12 pseudogene 1 pseudogene pseudogene Approved 2p14 02p14 2020-01-08 2020-01-21 402076 ENSG00000235968 NG_021504 HGNC:21658 FBXL13 F-box and leucine rich repeat protein 13 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC21636|Fbl13|DRC6|CFAP169" cilia and flagella associated protein 169 "F-box and leucine rich repeat proteins|Dynein regulatory complex|Cilia and flagella associated" "558|981|1491" 2004-06-15 2016-06-06 2023-03-15 222235 ENSG00000161040 OTTHUMG00000157224 uc003vaq.3 BC031285 NM_145032 "CCDS94164|CCDS5726" Q8NEE6 MGI:2443416 RGD:1642425 609080 HGNC:21658 HGNC:28624 FBXL14 F-box and leucine rich repeat protein 14 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "MGC40195|Fbl14" F-box and leucine rich repeat proteins 558 2004-01-08 2016-06-06 2023-01-20 144699 ENSG00000171823 OTTHUMG00000090369 uc001qjh.3 BC028132 NM_152441 CCDS8509 Q8N1E6 19955572 MGI:2141676 RGD:1305523 609081 HGNC:28624 "ENST00000339235.4|NM_152441.3" @@ -8971,34 +8972,34 @@ HGNC:28155 FBXL15 F-box and leucine rich repeat protein 15 protein-coding gene g HGNC:14150 FBXL16 F-box and leucine rich repeat protein 16 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MGC33974|Fbl16" C16orf22 chromosome 16 open reading frame 22 F-box and leucine rich repeat proteins 558 2000-12-21 2004-06-16 2016-06-06 2023-01-20 146330 ENSG00000127585 OTTHUMG00000090420 uc021taa.2 BC036680 NM_153350 CCDS10421 Q8N461 11157797 MGI:2448488 RGD:1309127 609082 HGNC:14150 "ENST00000397621.6|NM_153350.4" HGNC:13615 FBXL17 F-box and leucine rich repeat protein 17 protein-coding gene gene with protein product Approved 5q21.3 05q21.3 "DKFZP434C1715|Fbx13|Fbl17" FBXO13 F-box only protein 13 F-box and leucine rich repeat proteins 558 2003-01-15 2004-06-16 2016-06-06 2023-03-15 64839 ENSG00000145743 OTTHUMG00000159785 uc011cvc.3 AL133602 NM_001163315 CCDS54886 Q9UF56 MGI:1354704 RGD:1309773 609083 HGNC:13615 "ENST00000542267.7|NM_001163315.3" HGNC:21874 FBXL18 F-box and leucine rich repeat protein 18 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "FLJ11467|Fbl18" "F-box and leucine rich repeat proteins|MicroRNA protein coding host genes" "558|1691" 2004-06-15 2016-06-06 2023-01-20 80028 ENSG00000155034 OTTHUMG00000151832 uc003son.5 AK057042 NM_024963 CCDS43546 Q96ME1 MGI:2444450 RGD:1596958 609084 HGNC:21874 "ENST00000382368.8|NM_024963.6" -HGNC:25300 FBXL19 F-box and leucine rich repeat protein 19 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "DKFZp434K0410|Fbl19|JHDM1C|CXXC11" jumonji C domain-containing histone demethylase 1C "PHD finger proteins|Zinc fingers CXXC-type|F-box and leucine rich repeat proteins" "88|136|558" 2004-06-15 2016-06-06 2023-03-15 54620 ENSG00000099364 OTTHUMG00000132403 uc002eab.2 AK127701 NM_019085 "CCDS92142|CCDS73873|CCDS45465" Q6PCT2 MGI:3039600 RGD:1310989 609085 HGNC:25300 "ENST00000338343.10|NM_001382779.1" +HGNC:25300 FBXL19 F-box and leucine rich repeat protein 19 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "DKFZp434K0410|Fbl19|JHDM1C|CXXC11" jumonji C domain-containing histone demethylase 1C "PHD finger proteins|Zinc fingers CXXC-type|F-box and leucine rich repeat proteins" "88|136|558" 2004-06-15 2016-06-06 2023-03-15 54620 ENSG00000099364 OTTHUMG00000132403 uc002eab.2 AK127701 NM_019085 "CCDS45465|CCDS73873|CCDS92142" Q6PCT2 MGI:3039600 RGD:1310989 609085 HGNC:25300 "ENST00000338343.10|NM_001382779.1" HGNC:27557 FBXL19-AS1 FBXL19 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 "MGC125469|MGC125470|MGC125472" NCRNA00095 "non-protein coding RNA 95|FBXL19 antisense RNA 1 (non-protein coding)|FBXL19 antisense RNA 1|FBXL19 antisense RNA 1 (head to head)" Antisense RNAs 1987 2008-09-03 2011-03-30 2018-03-22 2023-03-15 283932 ENSG00000260852 OTTHUMG00000176767 uc002dzy.4 AK090544 NR_024348 Q494R0 "28479250|31210311" FBXL19-AS1 HGNC:27557 HGNC:24679 FBXL20 F-box and leucine rich repeat protein 20 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC15482|Fbl2|Fbl20" F-box and leucine rich repeat proteins 558 2004-06-15 2016-06-06 2023-01-20 84961 ENSG00000108306 OTTHUMG00000179002 uc002hrt.4 BC007557 NM_032875 "CCDS54116|CCDS32640" Q96IG2 25593308 MGI:1919444 RGD:621722 609086 HGNC:24679 "ENST00000264658.11|NM_032875.3" HGNC:13600 FBXL21P F-box and leucine rich repeat protein 21, pseudogene pseudogene pseudogene Approved 5q31.1 05q31.1 "FBL3B|Fbl21" "FBXL3B|FBXL3P|FBXL21" "F-box and leucine-rich repeat protein 3 pseudogene|F-box and leucine-rich repeat protein 21|F-box and leucine rich repeat protein 21 (gene/pseudogene)" F-box and leucine rich repeat proteins 558 2000-09-27 2018-10-24 2018-10-24 2023-03-15 26223 ENSG00000164616 OTTHUMG00000155971 AF129533 NR_152420 Q9UKT6 10531035 MGI:2442921 RGD:1305555 609087 HGNC:13600 -HGNC:27537 FBXL22 F-box and leucine rich repeat protein 22 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "Fbl22|FLJ39626" F-box and leucine rich repeat proteins 558 2004-08-09 2016-06-06 2023-01-20 283807 ENSG00000197361 OTTHUMG00000132905 uc002amn.5 BC065833 NM_203373 "CCDS92015|CCDS10187|CCDS92016" Q6P050 22972877 MGI:1921415 RGD:1311830 609088 HGNC:27537 "ENST00000638704.2|NM_001367807.1" +HGNC:27537 FBXL22 F-box and leucine rich repeat protein 22 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "Fbl22|FLJ39626" F-box and leucine rich repeat proteins 558 2004-08-09 2016-06-06 2023-01-20 283807 ENSG00000197361 OTTHUMG00000132905 uc002amn.5 BC065833 NM_203373 "CCDS92015|CCDS92016|CCDS10187" Q6P050 22972877 MGI:1921415 RGD:1311830 609088 HGNC:27537 "ENST00000638704.2|NM_001367807.1" HGNC:13581 FBXO2 F-box protein 2 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FBX2|Nfb42|Fbs1|Fbg1" OCP1 "F-box only protein 2|organ of Corti protein 1" F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26232 ENSG00000116661 OTTHUMG00000002072 uc001asj.4 AF174594 NM_012168 CCDS130 Q9UK22 "10531035|10531037" MGI:2446216 RGD:621751 607112 HGNC:13581 "ENST00000354287.5|NM_012168.6" -HGNC:13582 FBXO3 F-box protein 3 protein-coding gene gene with protein product Approved 11p13 11p13 "FBX3|FBA" F-box only protein 3 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26273 ENSG00000110429 OTTHUMG00000166244 uc001muz.4 AK001943 NM_012175 "CCDS44566|CCDS7887" Q9UK99 10531037 MGI:1929084 RGD:1593433 609089 HGNC:13582 "ENST00000265651.8|NM_012175.4" +HGNC:13582 FBXO3 F-box protein 3 protein-coding gene gene with protein product Approved 11p13 11p13 "FBX3|FBA" F-box only protein 3 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26273 ENSG00000110429 OTTHUMG00000166244 uc001muz.4 AK001943 NM_012175 "CCDS7887|CCDS44566" Q9UK99 10531037 MGI:1929084 RGD:1593433 609089 HGNC:13582 "ENST00000265651.8|NM_012175.4" HGNC:51147 FBXO3-DT FBXO3 divergent transcript non-coding RNA RNA, long non-coding Approved 11p13 11p13 FBXO3-AS1 FBXO3 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-07-30 2018-03-23 2018-03-23 2018-03-23 101928440 ENSG00000254508 OTTHUMG00000166272 NR_120550 FBXO3-AS1 HGNC:51147 -HGNC:13583 FBXO4 F-box protein 4 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 FBX4 F-box only protein 4 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26272 ENSG00000151876 OTTHUMG00000094799 uc003jmq.4 AF129534 NM_001297437 "CCDS75238|CCDS3938|CCDS3939" Q9UKT5 "10531035|10531037" MGI:2146220 RGD:1307580 609090 HGNC:13583 "ENST00000281623.8|NM_012176.3" +HGNC:13583 FBXO4 F-box protein 4 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 FBX4 F-box only protein 4 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26272 ENSG00000151876 OTTHUMG00000094799 uc003jmq.4 AF129534 NM_001297437 "CCDS75238|CCDS3939|CCDS3938" Q9UKT5 "10531035|10531037" MGI:2146220 RGD:1307580 609090 HGNC:13583 "ENST00000281623.8|NM_012176.3" HGNC:13584 FBXO5 F-box protein 5 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "FBX5|Fbxo31|EMI1" F-box only protein 5 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26271 ENSG00000112029 OTTHUMG00000015854 uc003qpg.4 AF129535 NM_001142522 "CCDS47501|CCDS5242" Q9UKT4 "10531035|10531037" MGI:1914391 RGD:1309405 606013 HGNC:13584 "ENST00000229758.8|NM_012177.5" HGNC:13585 FBXO6 F-box protein 6 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FBX6|FBG2|FBS2|Fbx6b" F-box only protein 6 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26270 ENSG00000116663 OTTHUMG00000002229 uc001aso.4 AF129536 NM_018438 CCDS133 Q9NRD1 "10531035|10945468" MGI:1354743 RGD:620418 605647 HGNC:13585 "ENST00000376753.9|NM_018438.6" HGNC:13586 FBXO7 F-box protein 7 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "FBX7|Fbx|PARK15" F-box only protein 7 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 25793 ENSG00000100225 OTTHUMG00000030674 uc003amq.4 AF129537 NM_001033024 "CCDS46695|CCDS58806|CCDS13907" Q9Y3I1 "10531035|10531037|19038853" MGI:1917004 RGD:1305648 605648 181111 HGNC:13586 "ENST00000266087.12|NM_012179.4" HGNC:13586 HGNC:13587 FBXO8 F-box protein 8 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 "FBX8|FBS" F-box only protein 8 "F-boxes other|Sec7 family" "560|1945" 2000-09-27 2004-06-15 2023-01-20 26269 ENSG00000164117 OTTHUMG00000160746 uc003itp.4 AF174596 NM_012180 CCDS3820 Q9NRD0 "10531035|10531037" MGI:1354696 RGD:1307596 605649 HGNC:13587 "ENST00000393674.7|NM_012180.3" -HGNC:13588 FBXO9 F-box protein 9 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "FBX9|NY-REN-57" F-box only protein 9 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26268 ENSG00000112146 OTTHUMG00000014869 uc063pbe.1 AF155114 NM_012347 "CCDS55022|CCDS55024|CCDS55023" Q9UK97 "10531035|10531037" MGI:1918788 RGD:1310374 609091 HGNC:13588 "ENST00000323557.12|NM_033480.3" +HGNC:13588 FBXO9 F-box protein 9 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "FBX9|NY-REN-57" F-box only protein 9 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26268 ENSG00000112146 OTTHUMG00000014869 uc063pbe.1 AF155114 NM_012347 "CCDS55023|CCDS55022|CCDS55024" Q9UK97 "10531035|10531037" MGI:1918788 RGD:1310374 609091 HGNC:13588 "ENST00000323557.12|NM_033480.3" HGNC:13589 FBXO10 F-box protein 10 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 FBX10 F-box only protein 10 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26267 ENSG00000147912 OTTHUMG00000019926 uc004aab.3 AF174598 NM_012166 CCDS47966 Q9UK96 "10531035|10531037|19300908" MGI:2686937 RGD:1305465 609092 objectId:2655 HGNC:13589 "ENST00000432825.7|NM_012166.3" HGNC:13590 FBXO11 F-box protein 11 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "FBX11|UBR6" ubiquitin protein ligase E3 component n-recognin 6 F-box only protein 11 "F-boxes other|Ubiquitin protein ligase E3 component n-recognins" "560|785" 2000-09-27 2008-06-23 2008-06-23 2023-03-15 80204 ENSG00000138081 OTTHUMG00000129130 uc010fbl.3 AF174599 "NM_012167|NM_018693|NM_025133" "CCDS1837|CCDS54357" Q86XK2 "10531035|16487488|18162545" MGI:2147134 RGD:727935 FBXO11 607871 objectId:1260 HGNC:13590 "ENST00000403359.8|NM_001190274.2" HGNC:13590 HGNC:13617 FBXO15 F-box protein 15 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "MGC39671|FBX15" F-box only protein 15 F-boxes other 560 2003-12-05 2004-06-15 2023-03-15 201456 ENSG00000141665 OTTHUMG00000132842 uc002llf.3 AK094215 NM_152676 CCDS45884 Q8NCQ5 12665572 MGI:1354755 RGD:1310628 609093 HGNC:13617 "ENST00000419743.7|NM_001142958.2" HGNC:13617 -HGNC:13618 FBXO16 F-box protein 16 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 FBX16 F-box only protein 16 F-boxes other 560 2003-06-09 2004-06-15 2023-01-20 157574 ENSG00000214050 OTTHUMG00000102147 uc003xgu.5 AF453435 NM_172366 "CCDS6068|CCDS59099" Q8IX29 12243353 MGI:1354706 RGD:1305049 608519 HGNC:13618 "ENST00000380254.7|NM_172366.4" +HGNC:13618 FBXO16 F-box protein 16 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 FBX16 F-box only protein 16 F-boxes other 560 2003-06-09 2004-06-15 2023-01-20 157574 ENSG00000214050 OTTHUMG00000102147 uc003xgu.5 AF453435 NM_172366 "CCDS59099|CCDS6068" Q8IX29 12243353 MGI:1354706 RGD:1305049 608519 HGNC:13618 "ENST00000380254.7|NM_172366.4" HGNC:18754 FBXO17 F-box protein 17 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FBG4|FLJ25205|MGC9379|FLJ11798|Fbx17" F-box only protein 26 FBXO26 F-box only protein 17 F-boxes other 560 2002-07-22 2004-06-16 2004-06-15 2023-01-20 115290 ENSG00000269190 OTTHUMG00000182718 uc002okg.3 AF386743 NM_024907 CCDS12526 Q96EF6 MGI:1354707 RGD:1308308 609094 HGNC:18754 "ENST00000292852.9|NM_024907.7" -HGNC:13592 FBXO21 F-box protein 21 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 "FBX21|KIAA0875" F-box only protein 21 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 23014 ENSG00000135108 OTTHUMG00000169495 uc001twk.4 AB020682 NM_033624 "CCDS9184|CCDS44989" O94952 "10048485|10531035" MGI:1924223 RGD:1307346 609095 HGNC:13592 "ENST00000622495.5|NM_015002.3" -HGNC:13593 FBXO22 F-box protein 22 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "FBX22|FISTC1" FIST domain containing 1 F-box only protein 22 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26263 ENSG00000167196 OTTHUMG00000142841 uc002bbk.4 AF174602 NM_147188 "CCDS45310|CCDS10287" Q8NEZ5 "10531035|10531037|17855421" MGI:1926014 RGD:1306664 609096 HGNC:13593 "ENST00000308275.8|NM_147188.3" -HGNC:13595 FBXO24 F-box protein 24 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FBX24 F-box only protein 24 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26261 ENSG00000106336 OTTHUMG00000159543 uc011kjz.2 AF174604 NM_001163499 "CCDS5699|CCDS5698|CCDS55138" O75426 "10531035|10531037" MGI:1918426 RGD:1305095 609097 HGNC:13595 "ENST00000241071.11|NM_033506.3" -HGNC:13596 FBXO25 F-box protein 25 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 FBX25 F-box only protein 25 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26260 ENSG00000147364 OTTHUMG00000090341 uc003wpb.3 AF174605 NM_012173 "CCDS5952|CCDS5953|CCDS5954" Q8TCJ0 "10531035|10531037" MGI:1914072 RGD:1359105 609098 HGNC:13596 "ENST00000350302.8|NM_183420.2" +HGNC:13592 FBXO21 F-box protein 21 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 "FBX21|KIAA0875" F-box only protein 21 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 23014 ENSG00000135108 OTTHUMG00000169495 uc001twk.4 AB020682 NM_033624 "CCDS44989|CCDS9184" O94952 "10048485|10531035" MGI:1924223 RGD:1307346 609095 HGNC:13592 "ENST00000622495.5|NM_015002.3" +HGNC:13593 FBXO22 F-box protein 22 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "FBX22|FISTC1" FIST domain containing 1 F-box only protein 22 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26263 ENSG00000167196 OTTHUMG00000142841 uc002bbk.4 AF174602 NM_147188 "CCDS10287|CCDS45310" Q8NEZ5 "10531035|10531037|17855421" MGI:1926014 RGD:1306664 609096 HGNC:13593 "ENST00000308275.8|NM_147188.3" +HGNC:13595 FBXO24 F-box protein 24 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FBX24 F-box only protein 24 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26261 ENSG00000106336 OTTHUMG00000159543 uc011kjz.2 AF174604 NM_001163499 "CCDS55138|CCDS5698|CCDS5699" O75426 "10531035|10531037" MGI:1918426 RGD:1305095 609097 HGNC:13595 "ENST00000241071.11|NM_033506.3" +HGNC:13596 FBXO25 F-box protein 25 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 FBX25 F-box only protein 25 F-boxes other 560 2000-09-27 2004-06-15 2023-01-20 26260 ENSG00000147364 OTTHUMG00000090341 uc003wpb.3 AF174605 NM_012173 "CCDS5954|CCDS5953|CCDS5952" Q8TCJ0 "10531035|10531037" MGI:1914072 RGD:1359105 609098 HGNC:13596 "ENST00000350302.8|NM_183420.2" HGNC:18753 FBXO27 F-box protein 27 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "Fbg5|Fbx27" F-box only protein 27 F-boxes other 560 2002-07-22 2004-06-15 2023-01-20 126433 ENSG00000161243 OTTHUMG00000182719 uc002okh.5 AF436061 NM_178820 CCDS12527 Q8NI29 126433 MGI:2685007 RGD:1563982 609099 HGNC:18753 "ENST00000292853.9|NM_178820.5" HGNC:29046 FBXO28 F-box protein 28 protein-coding gene gene with protein product Approved 1q42.11 01q42.11 "FLJ10766|KIAA0483|Fbx28|CENP-30" centromere protein 30 F-boxes other 560 2004-06-15 2023-01-20 23219 ENSG00000143756 OTTHUMG00000037495 uc001hoh.3 AK001628 NM_015176 "CCDS1539|CCDS44320" Q9NVF7 9455484 MGI:1261890 RGD:1304584 609100 470322 HGNC:29046 "ENST00000366862.10|NM_015176.4" HGNC:29046 HGNC:15600 FBXO30 F-box protein 30 protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "MGC21674|Fbx30" F-box only protein, helicase, 18 "F-boxes other|Zinc fingers TRAF-type" "560|2139" 2001-05-15 2004-06-15 2023-01-20 84085 ENSG00000118496 OTTHUMG00000015749 uc003qla.4 AF248640 NM_001348092 CCDS5208 Q8TB52 MGI:1919115 RGD:1359367 609101 HGNC:15600 "ENST00000237281.5|NM_032145.5" HGNC:16510 FBXO31 F-box protein 31 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "FBX14|FBXO14|Fbx31|MGC15419" F-box only protein 31 F-boxes other 560 2001-09-12 2004-05-27 2023-01-20 79791 ENSG00000103264 OTTHUMG00000175685 uc002fjw.5 BC002985 NM_024735 "CCDS32501|CCDS73922" Q5XUX0 MGI:1354708 RGD:1561069 609102 410726 HGNC:16510 "ENST00000311635.12|NM_024735.5" HGNC:16510 -HGNC:16731 FBXO32 F-box protein 32 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MAFbx|ATROGIN1|Fbx32" F-box only protein 32 F-boxes other 560 2001-10-04 2004-06-15 2023-01-20 114907 ENSG00000156804 OTTHUMG00000164981 uc003yqr.4 AJ420108 NM_001242463 "CCDS6345|CCDS56553" Q969P5 "11679633|11717410" MGI:1914981 RGD:620373 606604 HGNC:16731 "ENST00000517956.5|NM_058229.4" +HGNC:16731 FBXO32 F-box protein 32 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MAFbx|ATROGIN1|Fbx32" F-box only protein 32 F-boxes other 560 2001-10-04 2004-06-15 2023-01-20 114907 ENSG00000156804 OTTHUMG00000164981 uc003yqr.4 AJ420108 NM_001242463 "CCDS56553|CCDS6345" Q969P5 "11679633|11717410" MGI:1914981 RGD:620373 606604 HGNC:16731 "ENST00000517956.5|NM_058229.4" HGNC:19833 FBXO33 F-box protein 33 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 Fbx33 F-box only protein 33 F-boxes other 560 2002-11-27 2004-06-15 2023-01-20 254170 ENSG00000165355 OTTHUMG00000140257 uc001wvk.4 BI460761 NM_203301 CCDS9677 Q7Z6M2 MGI:1917861 RGD:1307543 609103 HGNC:19833 "ENST00000298097.8|NM_203301.4" HGNC:20201 FBXO34 F-box protein 34 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "FLJ20725|Fbx34" F-box only protein 34 F-boxes other 560 2003-01-08 2004-06-15 2023-01-20 55030 ENSG00000178974 OTTHUMG00000171033 uc001xbu.4 AK000732 NM_017943 CCDS32086 Q9NWN3 MGI:1926188 RGD:1310108 609104 HGNC:20201 "ENST00000313833.5|NM_017943.4" HGNC:55450 FBXO34-AS1 FBXO34 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q22.3 14q22.3 Antisense RNAs 1987 2021-01-20 2021-01-20 105370509 ENSG00000258413 NR_184222 @@ -9012,30 +9013,30 @@ HGNC:29816 FBXO40 F-box protein 40 protein-coding gene gene with protein product HGNC:29409 FBXO41 F-box protein 41 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "KIAA1940|Fbx41" F-boxes other 560 2004-06-15 2023-01-20 150726 ENSG00000163013 OTTHUMG00000164127 uc061kqf.1 AB075820 NM_001080410 CCDS46337 Q8TF61 11853319 MGI:1261912 RGD:1566130 609108 HGNC:29409 "ENST00000520530.3|NM_001371389.2" HGNC:29249 FBXO42 F-box protein 42 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "KIAA1332|Fbx42" F-boxes other 560 2004-06-15 2023-01-20 54455 ENSG00000037637 OTTHUMG00000002218 uc001ayg.4 BC063864 NM_018994 CCDS30613 Q6P3S6 10718198 MGI:1924992 RGD:1304787 609109 HGNC:29249 "ENST00000375592.8|NM_018994.3" HGNC:28521 FBXO43 F-box protein 43 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 Fbx43 F-boxes other 560 2004-06-15 2023-03-15 286151 ENSG00000156509 OTTHUMG00000164803 uc003yjd.4 BC028709 NM_001029860 CCDS47904 Q4G163 MGI:1926053 RGD:1310225 609110 HGNC:28521 "ENST00000428847.3|NM_001029860.4" -HGNC:24847 FBXO44 F-box protein 44 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FBX30|FBG3|MGC14140|Fbxo6a|Fbx44" F-boxes other 560 2004-06-15 2023-01-20 93611 ENSG00000132879 OTTHUMG00000002071 uc001asl.3 AY040878 NM_183412 "CCDS81261|CCDS132|CCDS131" Q9H4M3 12383498 MGI:1354744 RGD:1562463 609111 HGNC:24847 "ENST00000251547.10|NM_033182.7" +HGNC:24847 FBXO44 F-box protein 44 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FBX30|FBG3|MGC14140|Fbxo6a|Fbx44" F-boxes other 560 2004-06-15 2023-01-20 93611 ENSG00000132879 OTTHUMG00000002071 uc001asl.3 AY040878 NM_183412 "CCDS81261|CCDS131|CCDS132" Q9H4M3 12383498 MGI:1354744 RGD:1562463 609111 HGNC:24847 "ENST00000251547.10|NM_033182.7" HGNC:29148 FBXO45 F-box protein 45 protein-coding gene gene with protein product Approved 3q29 03q29 Fbx45 F-boxes other 560 2004-10-20 2023-01-20 200933 ENSG00000174013 OTTHUMG00000155571 uc010iai.4 AK025697 NM_001105573 CCDS46985 P0C2W1 MGI:2447775 RGD:1311861 609112 HGNC:29148 "ENST00000311630.7|NM_001105573.2" HGNC:25069 FBXO46 F-box protein 46 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "20D7-FC4|Fbx46" FBXO34L F-box only protein 34-like F-boxes other 560 2004-02-11 2004-06-16 2004-06-15 2023-01-20 23403 ENSG00000177051 OTTHUMG00000182132 uc002pcz.4 BC021978 NM_001329632 CCDS46116 Q6PJ61 9585442 MGI:2444918 RGD:1308393 609117 HGNC:25069 "ENST00000317683.4|NM_001080469.2" HGNC:31969 FBXO47 F-box protein 47 protein-coding gene gene with protein product Approved 17q12 17q12 F-boxes other 560 2007-08-20 2023-01-20 494188 ENSG00000204952 OTTHUMG00000178945 uc002hrc.2 NM_001008777 CCDS32639 Q5MNV8 15723337 MGI:1920223 RGD:1559709 609498 HGNC:31969 "ENST00000378079.3|NM_001008777.3" HGNC:33857 FBXO48 F-box protein 48 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 F-boxes other 560 2008-05-07 2023-01-20 554251 ENSG00000204923 OTTHUMG00000152585 uc002seo.5 BC089423 NM_001024680 CCDS33213 Q5FWF7 MGI:2442569 RGD:1309073 HGNC:33857 "ENST00000377957.4|NM_001024680.3" -HGNC:13608 FBXW2 F-box and WD repeat domain containing 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "FBW2|Md6|Fwd2" F-box and WD-40 domain protein 2 "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2000-09-27 2007-02-08 2023-01-20 26190 ENSG00000119402 OTTHUMG00000020576 uc004bkm.2 AF129531 NM_001375888 "CCDS43872|CCDS94471" Q9UKT8 "10531035|10828603" MGI:1353435 RGD:1310460 609071 HGNC:13608 "ENST00000608872.6|NM_012164.4" +HGNC:13608 FBXW2 F-box and WD repeat domain containing 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "FBW2|Md6|Fwd2" F-box and WD-40 domain protein 2 "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2000-09-27 2007-02-08 2023-01-20 26190 ENSG00000119402 OTTHUMG00000020576 uc004bkm.2 AF129531 NM_001375888 "CCDS94471|CCDS43872" Q9UKT8 "10531035|10828603" MGI:1353435 RGD:1310460 609071 HGNC:13608 "ENST00000608872.6|NM_012164.4" HGNC:10847 FBXW4 F-box and WD repeat domain containing 4 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "Fbw4|dactylin" SHFM3 "split hand/foot malformation (ectrodactyly) type 3|F-box and WD-40 domain protein 4" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 1994-09-26 2005-03-12 2007-02-08 2023-01-20 6468 ENSG00000107829 OTTHUMG00000018938 uc001kto.4 AF281859 NM_022039 CCDS31271 P57775 "8723077|7912888" MGI:1354698 RGD:1306518 608071 HGNC:10847 "ENST00000331272.9|NM_022039.4" HGNC:10847 HGNC:13609 FBXW4P1 F-box and WD repeat domain containing 4 pseudogene 1 pseudogene pseudogene Approved 22q11.23 22q11.23 FBW3 "FBXW3|SHFM3P1" "F-box and WD-40 domain protein 3|split hand/foot malformation (ectrodactyly) type 3 pseudogene 1" 2000-09-27 2008-08-20 2008-08-20 2016-07-22 26226 ENSG00000230701 OTTHUMG00000030931 AF174606 NR_033408 "10531035|10531037" PGOHUM00000297709 HGNC:13609 HGNC:13613 FBXW5 F-box and WD repeat domain containing 5 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "DKFZP434B205|MGC20962|Fbw5" F-box and WD-40 domain protein 5 "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2003-06-09 2007-02-08 2023-03-15 54461 ENSG00000159069 OTTHUMG00000020967 uc004cjx.4 BC014130 NM_018998 CCDS7014 Q969U6 MGI:1354731 RGD:1305661 609072 HGNC:13613 "ENST00000325285.8|NM_018998.4" -HGNC:16712 FBXW7 F-box and WD repeat domain containing 7 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "AGO|FLJ11071|SEL-10|SEL10|FBW7|FBX30|CDC4|FBXW6" archipelago homolog (Drosophila) "F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)|F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase" "WD repeat domain containing|F-box and WD repeat domain containing|MicroRNA protein coding host genes" "362|559|1691" 2001-12-20 2015-11-20 2023-01-20 55294 ENSG00000109670 OTTHUMG00000185246 uc003imt.4 AF411971 NM_001013415 "CCDS3777|CCDS34078|CCDS3778|CCDS64082" Q969H0 "10531037|11425854" MGI:1354695 RGD:2321145 LRG_1141|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1141.xml FBXW7 606278 HGNC:16712 "ENST00000281708.10|NM_001349798.2" +HGNC:16712 FBXW7 F-box and WD repeat domain containing 7 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "AGO|FLJ11071|SEL-10|SEL10|FBW7|FBX30|CDC4|FBXW6" archipelago homolog (Drosophila) "F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)|F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase" "WD repeat domain containing|F-box and WD repeat domain containing|MicroRNA protein coding host genes" "362|559|1691" 2001-12-20 2015-11-20 2023-01-20 55294 ENSG00000109670 OTTHUMG00000185246 uc003imt.4 AF411971 NM_001013415 "CCDS34078|CCDS3777|CCDS64082|CCDS3778" Q969H0 "10531037|11425854" MGI:1354695 RGD:2321145 LRG_1141|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1141.xml FBXW7 606278 HGNC:16712 "ENST00000281708.10|NM_001349798.2" HGNC:52397 FBXW7-AS1 FBXW7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.3 04q31.3 "DEAR|DEspR" "dual-endothelin1/VEGFsp receptor|dual endothelin-1(VEGFsp)/angiotensin II receptor" Antisense RNAs 1987 2016-10-13 2021-02-24 102191832 ENSG00000270751 OTTHUMG00000185247 NR_104273 B0L3A2 HGNC:52397 HGNC:13597 FBXW8 F-box and WD repeat domain containing 8 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 "FBX29|FBW6|FBW8" FBXO29 "F-box only protein 29|F-box and WD-40 domain protein 8" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2000-09-27 2003-06-13 2007-02-08 2023-01-20 26259 ENSG00000174989 OTTHUMG00000169329 uc001twg.2 AF176707 NM_012174 "CCDS9182|CCDS44988" Q8N3Y1 "10531035|10531037" MGI:1923041 RGD:1306032 609073 HGNC:13597 "ENST00000652555.1|NM_153348.3" HGNC:28136 FBXW9 F-box and WD repeat domain containing 9 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "MGC10870|Fbw9|MEC-15" F-box and WD-40 domain protein 9 "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2004-06-15 2007-02-08 2023-01-20 84261 ENSG00000132004 OTTHUMG00000150152 uc002mum.2 BC004290 NM_032301 CCDS12278 Q5XUX1 23527112 MGI:1915878 RGD:1307002 609074 HGNC:28136 "ENST00000393261.8|NM_032301.3" HGNC:1211 FBXW10 F-box and WD repeat domain containing 10 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "SM2SH2|HREP|Fbw10" "C17orf1|C17orf1A" "chromosome 17 open reading frame 1A|F-box and WD-40 domain protein 10" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 1998-08-06 2004-07-21 2007-02-08 2023-01-20 10517 ENSG00000171931 OTTHUMG00000059048 uc002guk.4 BC028364 NM_031456 "CCDS11199|CCDS58524|CCDS92270" Q5XX13 "9787083|7586531" MGI:3052463 RGD:1563889 611679 HGNC:1211 "ENST00000395665.9|NM_001267585.2" HGNC:14379 FBXW10B F-box and WD repeat domain containing 10B protein-coding gene gene with protein product Approved 17p12 17p12 "HREP|SM25H2" "FBXW10P1|CDRT1" "F-box and WD repeat domain containing 10 pseudogene 1|F-box and WD-40 domain protein 10 pseudogene 1|CMT1A duplicated region transcript 1" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2001-02-28 2021-11-18 2021-11-18 2023-01-20 374286 ENSG00000241322 OTTHUMG00000059074 uc002gov.5 U65652 NM_006382 "CCDS73996|CCDS45619" O95170 "9787083|11381029" MGI:3052463 604596 HGNC:14379 "ENST00000395906.8|NM_006382.4" -HGNC:13607 FBXW11 F-box and WD repeat domain containing 11 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "KIAA0696|Fbw1b|BTRCP2|BTRC2|Hos|Fbw11" FBXW1B "F-box and WD-40 domain protein 1B|F-box and WD-40 domain protein 11" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2000-09-27 2004-06-16 2007-02-08 2023-01-20 23291 ENSG00000072803 OTTHUMG00000163267 uc003mbl.2 AB014596 NM_012300 "CCDS34289|CCDS93825|CCDS47341|CCDS47340" Q9UKB1 "10531035|10694485" MGI:2144023 RGD:1309121 605651 HGNC:13607 "ENST00000517395.6|NM_001378974.1" HGNC:13607 +HGNC:13607 FBXW11 F-box and WD repeat domain containing 11 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "KIAA0696|Fbw1b|BTRCP2|BTRC2|Hos|Fbw11" FBXW1B "F-box and WD-40 domain protein 1B|F-box and WD-40 domain protein 11" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2000-09-27 2004-06-16 2007-02-08 2023-01-20 23291 ENSG00000072803 OTTHUMG00000163267 uc003mbl.2 AB014596 NM_012300 "CCDS47340|CCDS34289|CCDS47341|CCDS93825" Q9UKB1 "10531035|10694485" MGI:2144023 RGD:1309121 605651 HGNC:13607 "ENST00000517395.6|NM_001378974.1" HGNC:13607 HGNC:1145 FBXW11P1 F-box and WD repeat domain containing 11 pseudogene 1 pseudogene pseudogene Approved 21q22.11 21q22.11 "F-box and WD-40 domain protein 1B pseudogene|beta-transducin repeat containing 2, pseudogene" "BTRC2P|FBXW1BP1|FBXW1BP" "F-box and WD-40 domain protein 1B pseudogene 1|F-box and WD-40 domain protein 11 pseudogene 1" 2000-05-23 2004-06-16 2007-02-08 2012-05-22 54099 ENSG00000230870 OTTHUMG00000084868 NG_000930 PGOHUM00000239065 HGNC:1145 HGNC:20729 FBXW12 F-box and WD repeat domain containing 12 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Fbw12 FBXO35 "F-box only protein 35|F-box and WD-40 domain protein 12" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2003-04-04 2004-07-21 2007-02-08 2023-01-20 285231 ENSG00000164049 OTTHUMG00000133530 uc003csr.3 "AK097594|AY247969" NM_207102 "CCDS54578|CCDS2764|CCDS54577" Q6X9E4 15040455 "MGI:2443323|MGI:2443324|MGI:3505590|MGI:3505701|MGI:3505704|MGI:3505706|MGI:3584372|MGI:3588266|MGI:3643290|MGI:3646659|MGI:3646662|MGI:3779847|MGI:1354703" RGD:1307859 609075 HGNC:20729 "ENST00000296438.9|NM_207102.2" -HGNC:24692 FCAMR Fc alpha and mu receptor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FKSG87|FCA/MR|CD351|Fcalpha/muR" Fc alpha/mu Receptor "Fc receptor, IgA, IgM, high affinity|Fc fragment of IgA and IgM receptor" "CD molecules|V-set domain containing|Fc receptors" "471|590|2120" 2005-06-03 2021-11-03 2023-01-20 83953 ENSG00000162897 OTTHUMG00000036579 uc001hfb.3 AF354295 NM_032029 "CCDS53468|CCDS41460" Q8WWV6 11779189 MGI:1927803 RGD:1584674 605484 HGNC:24692 "ENST00000324852.9|NM_001170631.2" -HGNC:3608 FCAR Fc alpha receptor protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "CD89|FcalphaRI|FcalphaR" "Fc fragment of IgA, receptor for|Fc fragment of IgA receptor" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1991-06-06 2021-11-02 2023-03-15 2204 ENSG00000186431 OTTHUMG00000065936 uc002qhr.3 X54150 NM_002000 "CCDS12909|CCDS42622|CCDS12907|CCDS12910|CCDS42624|CCDS12908|CCDS42625|CCDS42623" P24071 "1577457|2455732" RGD:1303082 147045 I43.951 objectId:2991 CD89 HGNC:3608 "ENST00000355524.8|NM_002000.4" -HGNC:3609 FCER1A Fc epsilon receptor Ia protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "FcepsilonRIalpha|FCERIA" FcepsilonRI alpha chain FCE1A "Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide|Fc fragment of IgE receptor Ia" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 1989-06-30 2021-11-03 2023-01-20 2205 ENSG00000179639 OTTHUMG00000037176 uc001ftq.4 BC015195 NM_002001 "CCDS91081|CCDS1184" P12319 "8245459|2146219|17165285" MGI:95494 RGD:2597 147140 objectId:2933 HGNC:3609 "ENST00000693622.1|NM_001387280.1" +HGNC:24692 FCAMR Fc alpha and mu receptor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FKSG87|FCA/MR|CD351|Fcalpha/muR" Fc alpha/mu Receptor "Fc receptor, IgA, IgM, high affinity|Fc fragment of IgA and IgM receptor" "CD molecules|V-set domain containing|Fc receptors" "471|590|2120" 2005-06-03 2021-11-03 2023-01-20 83953 ENSG00000162897 OTTHUMG00000036579 uc001hfb.3 AF354295 NM_032029 "CCDS41460|CCDS53468" Q8WWV6 11779189 MGI:1927803 RGD:1584674 605484 HGNC:24692 "ENST00000324852.9|NM_001170631.2" +HGNC:3608 FCAR Fc alpha receptor protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "CD89|FcalphaRI|FcalphaR" "Fc fragment of IgA, receptor for|Fc fragment of IgA receptor" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1991-06-06 2021-11-02 2023-03-15 2204 ENSG00000186431 OTTHUMG00000065936 uc002qhr.3 X54150 NM_002000 "CCDS12907|CCDS42622|CCDS42625|CCDS12910|CCDS42623|CCDS12909|CCDS12908|CCDS42624" P24071 "1577457|2455732" RGD:1303082 147045 I43.951 objectId:2991 CD89 HGNC:3608 "ENST00000355524.8|NM_002000.4" +HGNC:3609 FCER1A Fc epsilon receptor Ia protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "FcepsilonRIalpha|FCERIA" FcepsilonRI alpha chain FCE1A "Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide|Fc fragment of IgE receptor Ia" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 1989-06-30 2021-11-03 2023-01-20 2205 ENSG00000179639 OTTHUMG00000037176 uc001ftq.4 BC015195 NM_002001 "CCDS1184|CCDS91081" P12319 "8245459|2146219|17165285" MGI:95494 RGD:2597 147140 objectId:2933 HGNC:3609 "ENST00000693622.1|NM_001387280.1" HGNC:3611 FCER1G Fc epsilon receptor Ig protein-coding gene gene with protein product Approved 1q23.3 01q23.3 FcepsilonRIgamma FcepsilonRI gamma chain "Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide|Fc fragment of IgE receptor Ig" Fc receptors 2120 1990-08-15 2021-11-03 2023-01-20 2207 ENSG00000158869 OTTHUMG00000034343 uc001fyz.1 NM_004106 CCDS1225 P30273 "2138619|2146219" MGI:95496 RGD:2599 147139 objectId:2934 HGNC:3611 "ENST00000289902.2|NM_004106.2" HGNC:3612 FCER2 Fc epsilon receptor II protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "CLEC4J|CD23|FCErII|FcepsilonRII" "Fc epsilon RII|C-type lectin domain family 4 member J" "CD23A|FCE2" "Fc fragment of IgE, low affinity II, receptor for (CD23A)|Fc fragment of IgE, low affinity II, receptor for (CD23)|Fc fragment of IgE receptor II" "CD molecules|C-type lectin domain containing|Fc receptors" "471|1298|2120" 1988-08-05 2021-11-03 2023-03-15 2208 ENSG00000104921 OTTHUMG00000182517 uc002mhm.3 M15059 NM_002002 CCDS12184 P06734 2527805 MGI:95497 RGD:619997 151445 objectId:2935 CD23 HGNC:3612 "ENST00000597921.6|NM_001220500.2" -HGNC:20220 FCF1 FCF1 rRNA-processing protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "CGI-35|Bka|UTP24" C14orf111 "chromosome 14 open reading frame 111|FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)" "SSU processome|Endoribonucleases" "1484|1687" 2003-01-15 2007-01-30 2019-01-22 2023-01-20 51077 ENSG00000119616 OTTHUMG00000171480 uc001xqh.4 AF132969 NM_015962 "CCDS81827|CCDS9832" Q9Y324 16762320 MGI:1920986 RGD:1310899 HGNC:20220 "ENST00000341162.8|NM_015962.5" +HGNC:20220 FCF1 FCF1 rRNA-processing protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "CGI-35|Bka|UTP24" C14orf111 "chromosome 14 open reading frame 111|FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)" "SSU processome|Endoribonucleases" "1484|1687" 2003-01-15 2007-01-30 2019-01-22 2023-01-20 51077 ENSG00000119616 OTTHUMG00000171480 uc001xqh.4 AF132969 NM_015962 "CCDS9832|CCDS81827" Q9Y324 16762320 MGI:1920986 RGD:1310899 HGNC:20220 "ENST00000341162.8|NM_015962.5" HGNC:44613 FCF1P1 FCF1 pseudogene 1 pseudogene pseudogene Approved 7p15.3 07p15.3 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 1 2012-11-20 2013-06-10 2013-06-10 100422533 ENSG00000227436 OTTHUMG00000152690 NG_026543 PGOHUM00000233151 HGNC:44613 HGNC:44614 FCF1P2 FCF1 pseudogene 2 pseudogene pseudogene Approved 3p21.31 03p21.31 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 2 2012-11-20 2013-06-10 2013-06-10 101060195 ENSG00000228638 OTTHUMG00000156835 NR_134638 PGOHUM00000237620 HGNC:44614 HGNC:44615 FCF1P3 FCF1 pseudogene 3 pseudogene pseudogene Approved 3q13.12 03q13.12 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 3 2012-11-20 2013-06-10 2013-06-10 100128733 ENSG00000239997 OTTHUMG00000159139 NG_022263 PGOHUM00000238123 HGNC:44615 @@ -9051,34 +9052,34 @@ HGNC:13572 FCGBP Fc gamma binding protein protein-coding gene gene with protein HGNC:3613 FCGR1A Fc gamma receptor Ia protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "CD64|CD64A|FcgammaRI|FcgammaRIa|FCG1|FCGR1" Fc gamma RI "Fc fragment of IgG, high affinity Ia, receptor for (CD64)|Fc fragment of IgG, high affinity Ia, receptor (CD64)|Fc fragment of IgG receptor Ia" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1992-12-03 2021-10-28 2023-01-20 2209 ENSG00000150337 OTTHUMG00000012089 uc001esp.5 BC032634 NM_000566 CCDS933 P12314 "8697799|9763663" MGI:95498 RGD:1309912 "FCGR1Abase: Mutation registry for CD64 deficiency|http://structure.bmc.lu.se/idbase/FCGR1Abase/|LRG_59|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_59.xml" 146760 CD64A HGNC:3613 "ENST00000369168.5|NM_000566.4" HGNC:3614 FCGR1BP Fc gamma receptor Ib, pseudogene pseudogene pseudogene Approved 1p11.2 01p11.2 CD64b FCGR1B "Fc fragment of IgG, high affinity Ib, receptor for (CD64)|Fc fragment of IgG, high affinity Ib, receptor (CD64)|Fc fragment of IgG receptor Ib" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 1992-12-03 2021-11-01 2021-11-01 2023-03-15 2210 ENSG00000198019 OTTHUMG00000040903 uc031upu.2 NR_045213 Q92637 "8697799|9763663" MGI:95498 601502 HGNC:3614 HGNC:3615 FCGR1CP Fc gamma receptor Ic, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 CD64c FCGR1C "Fc fragment of IgG, high affinity Ic, receptor for (CD64)|Fc fragment of IgG, high affinity Ic, receptor (CD64)|Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene|Fc fragment of IgG receptor Ic, pseudogene" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 1992-12-03 2016-01-13 2021-11-01 2021-11-01 100132417 ENSG00000265531 OTTHUMG00000156231 NR_027484 "8697799|9763663" 601503 PGOHUM00000251132 HGNC:3615 -HGNC:3616 FCGR2A Fc gamma receptor IIa protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD32|CD32A|IGFR2|CDw32|Fc-gamma-RIIa|FcgammaRIIa" Immunoglobulin G Fc receptor II "FCG2|FCGR2A1|FCGR2" "Fc fragment of IgG, low affinity IIa, receptor for (CD32)|Fc fragment of IgG, low affinity IIa, receptor (CD32)|Fc fragment of IgG receptor IIa" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1988-11-30 2021-11-01 2023-01-20 2212 ENSG00000143226 OTTHUMG00000034469 uc001gam.4 J03619 NM_021642 "CCDS91088|CCDS30922|CCDS44264" P12318 "2139735|8994865" "MGI:95499|MGI:95500" RGD:71069 LRG_1109|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1109.xml 146790 objectId:3190 CD32A HGNC:3616 "ENST00000271450.12|NM_001136219.3" +HGNC:3616 FCGR2A Fc gamma receptor IIa protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD32|CD32A|IGFR2|CDw32|Fc-gamma-RIIa|FcgammaRIIa" Immunoglobulin G Fc receptor II "FCG2|FCGR2A1|FCGR2" "Fc fragment of IgG, low affinity IIa, receptor for (CD32)|Fc fragment of IgG, low affinity IIa, receptor (CD32)|Fc fragment of IgG receptor IIa" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1988-11-30 2021-11-01 2023-01-20 2212 ENSG00000143226 OTTHUMG00000034469 uc001gam.4 J03619 NM_021642 "CCDS44264|CCDS91088|CCDS30922" P12318 "2139735|8994865" "MGI:95499|MGI:95500" RGD:71069 LRG_1109|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1109.xml 146790 objectId:3190 CD32A HGNC:3616 "ENST00000271450.12|NM_001136219.3" HGNC:3618 FCGR2B Fc gamma receptor IIb protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD32|CD32B|FcgammaRIIb|FcGRIIB" "FCG2|FCGR2" "Fc fragment of IgG, low affinity IIb, receptor for (CD32)|Fc fragment of IgG, low affinity IIb, receptor (CD32)|Fc fragment of IgG receptor IIb" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1991-08-21 2021-11-01 2023-01-20 2213 ENSG00000072694 OTTHUMG00000034470 uc001gaz.3 BC031992 NM_004001 "CCDS30925|CCDS53414|CCDS30924" P31994 "2139735|19309690" MGI:95499 RGD:631331 FCGR2B 604590 322120 CD32B HGNC:3618 "ENST00000358671.10|NM_001394477.1" HGNC:3618 HGNC:15626 FCGR2C Fc gamma receptor IIc (gene/pseudogene) protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "hFcRII-C|CD32C|Fc-gamma-RIIc|FcgammaRIIc" "Fc fragment of IgG, low affinity IIc, receptor for (CD32)|Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)|Fc fragment of IgG receptor IIc (gene/pseudogene)" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-06-24 2021-11-03 2023-03-15 9103 ENSG00000244682 OTTHUMG00000074101 uc057msv.1 X17653 NM_201563 P31995 "2531080|24586589" MGI:95499 612169 CD32C HGNC:15626 HGNC:3619 FCGR3A Fc gamma receptor IIIa protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD16|CD16a|FcgammaRIIIa|FcGRIIIA" "FCGR3|FCG3" "Fc fragment of IgG, low affinity IIIa, receptor for (CD16)|Fc fragment of IgG, low affinity IIIa, receptor (CD16a)|Fc fragment of IgG receptor IIIa" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1988-11-30 2021-11-01 2023-01-20 2214 ENSG00000203747 OTTHUMG00000034466 uc009wui.4 BC036723 NM_000569 "CCDS91089|CCDS44266" P08637 "2139735|11835346|19309690" MGI:2179523 RGD:1303067 "FCGR3Abase: Mutation registry for Natural killer cell deficiency|http://structure.bmc.lu.se/idbase/FCGR3Abase/|LRG_60|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_60.xml" 146740 443014 objectId:3017 CD16a HGNC:3619 "ENST00000443193.6|NM_000569.8" HGNC:3619 HGNC:3620 FCGR3B Fc gamma receptor IIIb protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD16|CD16b|FcgammaRIIIb|FcRIIIb" "FCGR3|FCG3" "Fc fragment of IgG, low affinity IIIb, receptor for (CD16)|Fc fragment of IgG, low affinity IIIb, receptor (CD16b)|Fc fragment of IgG receptor IIIb" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1991-08-21 2021-11-01 2023-03-15 2215 ENSG00000162747 OTTHUMG00000074099 uc021pdo.2 J04162 NM_000570 "CCDS91090|CCDS41433" O75015 "2139735|11034564|17529978" MGI:2179523 LRG_1238|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1238.xml 610665 159574 CD16b HGNC:3620 "ENST00000650385.1|NM_001244753.2" -HGNC:3621 FCGRT Fc gamma receptor and transporter protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FcgammaRn|FcRn" "heavy chain of the major histocompatibility complex class I-like Fc receptor|transmembrane alpha chain of the neonatal receptor|neonatal Fc receptor|FCRN alpha-chain" "Fc fragment of IgG, receptor, transporter, alpha|Fc fragment of IgG receptor and transporter" C1-set domain containing 591 1995-08-23 2021-11-11 2023-01-20 2217 ENSG00000104870 OTTHUMG00000183155 uc002poe.3 U12255 NM_001136019 "CCDS12770|CCDS92663" P55899 "7964511|8646894" MGI:103017 RGD:61811 601437 objectId:2985 HGNC:3621 "ENST00000221466.10|NM_001136019.3" -HGNC:29002 FCHO1 FCH and mu domain containing endocytic adaptor 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA0290 FCH domain only 1 F-BAR domain containing 1288 2004-01-08 2019-07-19 2023-01-20 23149 ENSG00000130475 OTTHUMG00000183293 uc060vlv.1 AB006628 NM_015122 "CCDS59365|CCDS92561|CCDS92559|CCDS92558|CCDS92560|CCDS32955|CCDS59366" O14526 20448150 MGI:1921265 RGD:1307683 613437 HGNC:29002 "ENST00000596536.6|NM_015122.3" HGNC:29002 -HGNC:25180 FCHO2 FCH and mu domain containing endocytic adaptor 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 FCH domain only 2 F-BAR domain containing 1288 2004-07-16 2019-07-19 2023-01-20 115548 ENSG00000157107 OTTHUMG00000162413 uc003kcl.3 AL831971 NM_138782 "CCDS54868|CCDS47230" Q0JRZ9 15254787 MGI:3505790 RGD:1565396 613438 HGNC:25180 "ENST00000430046.7|NM_138782.3" +HGNC:3621 FCGRT Fc gamma receptor and transporter protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FcgammaRn|FcRn" "heavy chain of the major histocompatibility complex class I-like Fc receptor|transmembrane alpha chain of the neonatal receptor|neonatal Fc receptor|FCRN alpha-chain" "Fc fragment of IgG, receptor, transporter, alpha|Fc fragment of IgG receptor and transporter" C1-set domain containing 591 1995-08-23 2021-11-11 2023-01-20 2217 ENSG00000104870 OTTHUMG00000183155 uc002poe.3 U12255 NM_001136019 "CCDS92663|CCDS12770" P55899 "7964511|8646894" MGI:103017 RGD:61811 601437 objectId:2985 HGNC:3621 "ENST00000221466.10|NM_001136019.3" +HGNC:29002 FCHO1 FCH and mu domain containing endocytic adaptor 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA0290 FCH domain only 1 F-BAR domain containing 1288 2004-01-08 2019-07-19 2023-01-20 23149 ENSG00000130475 OTTHUMG00000183293 uc060vlv.1 AB006628 NM_015122 "CCDS32955|CCDS92559|CCDS92561|CCDS59365|CCDS59366|CCDS92558|CCDS92560" O14526 20448150 MGI:1921265 RGD:1307683 613437 HGNC:29002 "ENST00000596536.6|NM_015122.3" HGNC:29002 +HGNC:25180 FCHO2 FCH and mu domain containing endocytic adaptor 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 FCH domain only 2 F-BAR domain containing 1288 2004-07-16 2019-07-19 2023-01-20 115548 ENSG00000157107 OTTHUMG00000162413 uc003kcl.3 AL831971 NM_138782 "CCDS47230|CCDS54868" Q0JRZ9 15254787 MGI:3505790 RGD:1565396 613438 HGNC:25180 "ENST00000430046.7|NM_138782.3" HGNC:55232 FCHO2-DT FCHO2 divergent transcript non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 TCONS_00010375 Divergent transcripts 1990 2020-09-16 2020-09-16 118597832 ENSG00000272081 HGNC:25463 FCHSD1 FCH and double SH3 domains 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 FLJ00007 F-BAR domain containing 1288 2004-04-14 2023-01-20 89848 ENSG00000197948 OTTHUMG00000163762 uc003llk.3 AK027281 NM_033449 CCDS47295 Q86WN1 "11214971|15067381" MGI:2441771 RGD:1308240 617555 HGNC:25463 "ENST00000435817.7|NM_033449.3" HGNC:29114 FCHSD2 FCH and double SH3 domains 2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 KIAA0769 SH3MD3 SH3 multiple domains 3 F-BAR domain containing 1288 2004-01-08 2004-04-16 2004-04-14 2023-01-20 9873 ENSG00000137478 OTTHUMG00000153082 uc009ytl.4 AB018312 NM_014824 CCDS8218 O94868 "9872452|15067381" MGI:2448475 RGD:1304812 617556 HGNC:29114 "ENST00000409418.9|NM_014824.3" -HGNC:14315 FCMR Fc mu receptor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "TOSO|FcmuR" "IgM Fc receptor|Fc mu R" FAIM3 "Fas apoptotic inhibitory molecule 3|Fc fragment of IgM receptor" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-04-04 2015-04-24 2021-11-02 2023-01-20 9214 ENSG00000162894 OTTHUMG00000036457 AF057557 NM_005449 "CCDS53467|CCDS44304|CCDS1473" O60667 "9586636|1563211|25888699" MGI:1916419 RGD:1359282 606015 objectId:2992 HGNC:14315 "ENST00000367091.8|NM_005449.5" +HGNC:14315 FCMR Fc mu receptor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "TOSO|FcmuR" "IgM Fc receptor|Fc mu R" FAIM3 "Fas apoptotic inhibitory molecule 3|Fc fragment of IgM receptor" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-04-04 2015-04-24 2021-11-02 2023-01-20 9214 ENSG00000162894 OTTHUMG00000036457 AF057557 NM_005449 "CCDS53467|CCDS1473|CCDS44304" O60667 "9586636|1563211|25888699" MGI:1916419 RGD:1359282 606015 objectId:2992 HGNC:14315 "ENST00000367091.8|NM_005449.5" HGNC:3623 FCN1 ficolin 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FCNM "ficolin (collagen/fibrinogen domain-containing) 1|ficolin (collagen/fibrinogen domain containing) 1" "Fibrinogen C domain containing|Complement system activation components" "554|1638" 1996-07-11 2015-11-27 2023-01-20 2219 ENSG00000085265 OTTHUMG00000020895 uc004cfi.4 D83920 NM_002003 CCDS6985 O00602 "8573080|8884275" MGI:1341158 RGD:621222 601252 HGNC:3623 "ENST00000371806.4|NM_002003.5" HGNC:3624 FCN2 ficolin 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "P35|FCNL|EBP-37|ficolin-2" "hucolin|collagen/fibrinogen domain-containing protein 2|ficolin B|serum lectin p35|L-ficolin" "ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)|ficolin (collagen/fibrinogen domain containing lectin) 2" "Fibrinogen C domain containing|Complement system activation components" "554|1638" 1996-07-11 2015-11-27 2023-03-15 2220 ENSG00000160339 OTTHUMG00000020892 uc004cfg.1 D49353 NM_004108 CCDS6983 Q15485 8884275 MGI:1341158 601624 HGNC:3624 "ENST00000291744.11|NM_004108.3" HGNC:3625 FCN3 ficolin 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FCNH|HAKA1" Hakata antigen "ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)|ficolin (collagen/fibrinogen domain containing) 3" "Fibrinogen C domain containing|Complement system activation components" "554|1638" 1999-12-10 2015-11-27 2023-01-20 8547 ENSG00000142748 OTTHUMG00000005722 uc001boa.4 D88587 NM_003665 "CCDS300|CCDS301" O75636 "9694814|10330454" LRG_171|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_171.xml 604973 332191 HGNC:3625 "ENST00000270879.9|NM_003665.4" HGNC:3625 -HGNC:18509 FCRL1 Fc receptor like 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH1|IRTA5|IFGP1|CD307a" Fc receptor-like 1 "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-03-22 2016-01-21 2023-01-20 115350 ENSG00000163534 OTTHUMG00000019398 uc001frg.4 BC033690 NM_052938 "CCDS53383|CCDS53382|CCDS1170" Q96LA6 "11493702|11929751" MGI:2442862 RGD:1589411 606508 HGNC:18509 "ENST00000368176.8|NM_052938.5" +HGNC:18509 FCRL1 Fc receptor like 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH1|IRTA5|IFGP1|CD307a" Fc receptor-like 1 "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-03-22 2016-01-21 2023-01-20 115350 ENSG00000163534 OTTHUMG00000019398 uc001frg.4 BC033690 NM_052938 "CCDS53382|CCDS53383|CCDS1170" Q96LA6 "11493702|11929751" MGI:2442862 RGD:1589411 606508 HGNC:18509 "ENST00000368176.8|NM_052938.5" HGNC:14875 FCRL2 Fc receptor like 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH2|IRTA4|CD307b" SPAP1 "SH2 domain-containing phosphatase anchor protein 1|Fc receptor-like 2" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2001-04-06 2005-03-23 2016-01-21 2023-03-15 79368 ENSG00000132704 OTTHUMG00000019399 uc001fre.3 AF319438 NM_030764 CCDS1168 Q96LA5 11162587 MGI:1933397 RGD:1306885 606509 HGNC:14875 "ENST00000361516.8|NM_030764.4" HGNC:18506 FCRL3 Fc receptor like 3 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH3|IRTA3|IFGP3|SPAP2a|SPAP2|SPAP2b|SPAP2c|SPAP2d|SPAP2e|CD307c" Fc receptor-like 3 "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-03-22 2016-01-21 2023-01-20 115352 ENSG00000160856 OTTHUMG00000019400 uc001frb.4 AF459027 NM_052939 "CCDS1167|CCDS81385" Q96P31 "11493702|12014205" MGI:3053558 606510 HGNC:18506 "ENST00000368184.8|NM_052939.4" HGNC:18507 FCRL4 Fc receptor like 4 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH4|IRTA1|IGFP2|CD307d" Fc receptor-like 4 "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-03-22 2016-01-21 2023-01-20 83417 ENSG00000163518 OTTHUMG00000035488 uc001fqw.3 AF343661 NM_031282 CCDS1166 Q96PJ5 "11290337|11493702" FCRL4 605876 HGNC:18507 "ENST00000271532.2|NM_031282.3" HGNC:56400 FCRL4P1 FCRL4 pseudogene 1 pseudogene pseudogene Approved 3p24.3 03p24.3 2022-10-18 2022-10-18 127379687 ENSG00000234723 NG_115689 HGNC:18508 FCRL5 Fc receptor like 5 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH5|IRTA2|BXMAS1|CD307e" Fc receptor-like 5 "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-03-22 2016-01-21 2023-01-20 83416 ENSG00000143297 OTTHUMG00000017481 uc001fqu.3 AF369794 NM_031281 CCDS1165 Q96RD9 "11027651|11290337" MGI:3053558 RGD:1589379 605877 HGNC:18508 "ENST00000361835.8|NM_031281.3" -HGNC:31910 FCRL6 Fc receptor like 6 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "IFGP6|FLJ16056|FcRH6" Fc receptor-like 6 "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-03-31 2016-01-21 2023-01-20 343413 ENSG00000181036 OTTHUMG00000035351 uc001fud.5 AK131201 NM_001004310 "CCDS60312|CCDS30912" Q6DN72 MGI:3618339 RGD:1563939 613562 HGNC:31910 "ENST00000368106.4|NM_001004310.3" +HGNC:31910 FCRL6 Fc receptor like 6 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "IFGP6|FLJ16056|FcRH6" Fc receptor-like 6 "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-03-31 2016-01-21 2023-01-20 343413 ENSG00000181036 OTTHUMG00000035351 uc001fud.5 AK131201 NM_001004310 "CCDS30912|CCDS60312" Q6DN72 MGI:3618339 RGD:1563939 613562 HGNC:31910 "ENST00000368106.4|NM_001004310.3" HGNC:49448 FCRL6P1 Fc receptor like 6 pseudogene 1 pseudogene pseudogene Approved 1q23.2 01q23.2 Fc receptor-like 6 pseudogene 1 2013-12-03 2016-01-21 2016-01-21 100419077 NG_027004 PGOHUM00000244306 HGNC:49448 -HGNC:18504 FCRLA Fc receptor like A protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "MGC4595|FCRLc2|FCRLb|FCRLc1|FCRLd|FCRLe|FCRL|FREB|FCRLX" FCRLM1 "Fc receptor-like and mucin-like 1|Fc receptor-like A" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-05-10 2006-09-26 2016-01-21 2023-01-20 84824 ENSG00000132185 OTTHUMG00000034537 uc001gbd.4 AF531423 NM_032738 "CCDS53415|CCDS30926|CCDS91091|CCDS53416|CCDS53417|CCDS53419" Q7L513 11754007 MGI:2138647 RGD:1306176 606891 HGNC:18504 "ENST00000236938.12|NM_032738.4" -HGNC:26431 FCRLB Fc receptor like B protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "FLJ31052|FCRL2|FREB-2|FCRLY" FCRLM2 "Fc receptor-like and mucin-like 2|Fc receptor-like B" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-05-10 2006-09-26 2016-01-21 2023-03-15 127943 ENSG00000162746 OTTHUMG00000133629 uc001gbh.4 AY670683 NM_152378 "CCDS72962|CCDS30927|CCDS72963|CCDS72965|CCDS72964" Q6BAA4 15676285 MGI:3576487 RGD:1563018 609251 HGNC:26431 "ENST00000367948.7|NM_001002901.4" +HGNC:18504 FCRLA Fc receptor like A protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "MGC4595|FCRLc2|FCRLb|FCRLc1|FCRLd|FCRLe|FCRL|FREB|FCRLX" FCRLM1 "Fc receptor-like and mucin-like 1|Fc receptor-like A" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-05-10 2006-09-26 2016-01-21 2023-01-20 84824 ENSG00000132185 OTTHUMG00000034537 uc001gbd.4 AF531423 NM_032738 "CCDS53417|CCDS30926|CCDS53416|CCDS53419|CCDS91091|CCDS53415" Q7L513 11754007 MGI:2138647 RGD:1306176 606891 HGNC:18504 "ENST00000236938.12|NM_032738.4" +HGNC:26431 FCRLB Fc receptor like B protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "FLJ31052|FCRL2|FREB-2|FCRLY" FCRLM2 "Fc receptor-like and mucin-like 2|Fc receptor-like B" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-05-10 2006-09-26 2016-01-21 2023-03-15 127943 ENSG00000162746 OTTHUMG00000133629 uc001gbh.4 AY670683 NM_152378 "CCDS72965|CCDS72962|CCDS72964|CCDS30927|CCDS72963" Q6BAA4 15676285 MGI:3576487 RGD:1563018 609251 HGNC:26431 "ENST00000367948.7|NM_001002901.4" HGNC:29500 FCSK fucose kinase protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ39408 L-fucose kinase FUK fucokinase 2004-01-30 2019-02-13 2019-02-13 2023-01-20 197258 ENSG00000157353 OTTHUMG00000074085 uc002eyy.4 NM_145059 CCDS10891 Q8N0W3 12056818 MGI:1916071 RGD:1307000 608675 2.7.1.52 HGNC:29500 "ENST00000288078.11|NM_145059.3" -HGNC:19215 FDCSP follicular dendritic cell secreted protein protein-coding gene gene with protein product Approved 4q13.3 04q13.3 FDC-SP C4orf7 chromosome 4 open reading frame 7 2002-09-17 2011-12-12 2011-12-12 2023-01-20 260436 ENSG00000181617 OTTHUMG00000129393 uc003hfd.4 AF435080 NM_152997 CCDS3537 Q8NFU4 "12193705|17548624|20811673" RGD:1359468 607241 HGNC:19215 "ENST00000317987.6|NM_152997.4" -HGNC:3629 FDFT1 farnesyl-diphosphate farnesyltransferase 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 SQS squalene synthase 1993-07-26 2023-01-20 2222 ENSG00000079459 OTTHUMG00000090801 uc033bcg.2 X69141 NM_001287742 "CCDS75697|CCDS5985|CCDS75696|CCDS87579" P37268 MGI:102706 RGD:61834 184420 470324 objectId:645 2.5.1.21 HGNC:3629 "ENST00000220584.9|NM_004462.5" HGNC:3629 +HGNC:19215 FDCSP follicular dendritic cell secreted protein protein-coding gene gene with protein product Approved 4q13.3 04q13.3 FDC-SP C4orf7 chromosome 4 open reading frame 7 Secretory calcium-binding phosphoprotein family 2245 2002-09-17 2011-12-12 2011-12-12 2023-01-20 260436 ENSG00000181617 OTTHUMG00000129393 uc003hfd.4 AF435080 NM_152997 CCDS3537 Q8NFU4 "12193705|17548624|20811673" RGD:1359468 607241 HGNC:19215 "ENST00000317987.6|NM_152997.4" +HGNC:3629 FDFT1 farnesyl-diphosphate farnesyltransferase 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 SQS squalene synthase 1993-07-26 2023-01-20 2222 ENSG00000079459 OTTHUMG00000090801 uc033bcg.2 X69141 NM_001287742 "CCDS5985|CCDS75697|CCDS75696|CCDS87579" P37268 MGI:102706 RGD:61834 184420 470324 objectId:645 2.5.1.21 HGNC:3629 "ENST00000220584.9|NM_004462.5" HGNC:3629 HGNC:3631 FDPS farnesyl diphosphate synthase protein-coding gene gene with protein product Approved 1q22 01q22 farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase 1992-03-13 2010-06-24 2023-01-20 2224 ENSG00000160752 OTTHUMG00000013909 uc001fkc.3 J05262 NM_002004 "CCDS72940|CCDS1110|CCDS44241" P14324 1968462 MGI:104888 RGD:68953 134629 444574 objectId:644 "2.5.1.1|2.5.1.10" HGNC:3631 "ENST00000368356.9|NM_002004.4" HGNC:3631 HGNC:3632 FDPSP1 farnesyl diphosphate synthase pseudogene 1 pseudogene pseudogene Approved 1q31.1 01q31.1 "CHR39A|FPSL1|FDPSL1" farnesyl diphosphate synthase-like 1 (farnesyl pyrophosphate synthetase-like 1, cholesterol-repressible protein 39A) 1989-09-25 2010-10-12 2010-10-12 2016-10-05 343332 ENSG00000225462 OTTHUMG00000035481 NG_005667 2613235 PGOHUM00000245125 HGNC:3632 HGNC:3633 FDPSP2 farnesyl diphosphate synthase pseudogene 2 pseudogene pseudogene Approved 7q11.23 07q11.23 TCAG_1641456 "FPSL2|FDPSL2|FDPSL2A" "farnesyl diphosphate synthase-like 2 (farnesyl pyrophosphate synthetase-like 2)|farnesyl diphosphate synthase-like 2A (farnesyl pyrophosphate synthetase-like 2A)" 1989-09-25 2010-10-12 2010-10-12 2014-11-19 619190 ENSG00000233980 OTTHUMG00000155850 NR_003262 2613235 HGNC:3633 @@ -9095,7 +9096,7 @@ HGNC:3640 FDX1P1 ferredoxin 1 pseudogene 1 pseudogene pseudogene Approved 20q11. HGNC:3641 FDX1P2 ferredoxin 1 pseudogene 2 pseudogene pseudogene Approved 21q21.3 21q21.3 FDXP2 ferredoxin pseudogene 2 1991-08-19 2009-12-02 2009-12-02 2011-02-24 2216 ENSG00000227054 OTTHUMG00000078440 M34789 NG_001116 2340092 PGOHUM00000239159 HGNC:3641 HGNC:30546 FDX2 ferredoxin 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC19604 FDX1L ferredoxin 1-like "Mitochondrial respiratory chain complex assembly factors|Ferredoxin family" "645|2115" 2007-08-15 2016-05-27 2016-05-27 2023-03-15 112812 ENSG00000267673 OTTHUMG00000141299 uc002mny.3 AK097022 NM_001397406 CCDS32905 Q6P4F2 "2340092|24281368|22101253" MGI:1915415 RGD:1561264 614585 470326 HGNC:30546 "ENST00000393708.3|NM_001397406.1" HGNC:30546 HGNC:25110 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "LOC91893|hCG_2033039" hypothetical protein BC006136 2008-10-15 2023-01-20 91893 ENSG00000255561 OTTHUMG00000166795 uc001pmc.5 NM_138378 CCDS44729 Q9BRP7 MGI:3584513 RGD:1562252 HGNC:25110 "ENST00000260257.9|NM_138378.3" -HGNC:3642 FDXR ferredoxin reductase protein-coding gene gene with protein product Approved 17q25.1 17q25.1 ADR "adrenodoxin-NADP(+) reductase|adrenodoxin reductase" ADXR "Mitochondrial respiratory chain complex assembly factors|Mitochondrial iron-sulfur assembly components" "645|1853" 1988-06-09 2023-01-20 2232 ENSG00000161513 OTTHUMG00000179026 uc002jlx.4 J03826 NM_004110 "CCDS58591|CCDS58596|CCDS58595|CCDS58592|CCDS58594|CCDS11707|CCDS58593" P22570 "2845396|22101253" MGI:104724 RGD:621648 103270 1.18.1.6 HGNC:3642 "ENST00000293195.10|NM_024417.5" HGNC:3642 +HGNC:3642 FDXR ferredoxin reductase protein-coding gene gene with protein product Approved 17q25.1 17q25.1 ADR "adrenodoxin-NADP(+) reductase|adrenodoxin reductase" ADXR "Mitochondrial respiratory chain complex assembly factors|Mitochondrial iron-sulfur assembly components" "645|1853" 1988-06-09 2023-01-20 2232 ENSG00000161513 OTTHUMG00000179026 uc002jlx.4 J03826 NM_004110 "CCDS58591|CCDS58594|CCDS11707|CCDS58595|CCDS58596|CCDS58592|CCDS58593" P22570 "2845396|22101253" MGI:104724 RGD:621648 103270 1.18.1.6 HGNC:3642 "ENST00000293195.10|NM_024417.5" HGNC:3642 HGNC:3647 FECH ferrochelatase protein-coding gene gene with protein product Approved 18q21.31 18q21.31 protoporphyria ferrochelatase (protoporphyria) 1990-05-14 2010-05-11 2023-01-20 2235 ENSG00000066926 OTTHUMG00000132740 uc002lgq.5 D00726 NM_000140 "CCDS92465|CCDS11964|CCDS32836" P22830 1838349 MGI:95513 RGD:1307556 LRG_1080|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1080.xml 612386 121784 4.99.1.1 HGNC:3647 "ENST00000262093.11|NM_000140.5" HGNC:3647 HGNC:3648 FECHP1 ferrochelatase pseudogene 1 pseudogene pseudogene Approved 3p22.3 03p22.3 FECHP ferrochelatase pseudogene 1994-07-04 2010-03-12 2010-03-12 2014-11-19 2236 ENSG00000235534 OTTHUMG00000155765 X69299 NG_001118 8034322 PGOHUM00000237991 HGNC:3648 HGNC:16934 FEM1A fem-1 homolog A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 fem-1 homolog a (C. elegans) Ankyrin repeat domain containing 403 2002-10-08 2016-03-18 2023-01-20 55527 ENSG00000141965 OTTHUMG00000182048 uc002mbf.4 BC004988 NM_018708 CCDS12135 Q9BSK4 11441184 MGI:1335089 RGD:1561112 613538 HGNC:16934 "ENST00000269856.5|NM_018708.3" @@ -9108,7 +9109,7 @@ HGNC:16933 FEM1C fem-1 homolog C protein-coding gene gene with protein product A HGNC:3650 FEN1 flap structure-specific endonuclease 1 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "FEN-1|MF1" "maturation factor-1|DNase IV" RAD2 1995-02-03 2023-01-20 2237 ENSG00000168496 OTTHUMG00000168162 uc001nsg.4 L37374 NM_004111 CCDS8010 P39748 7774922 MGI:102779 RGD:621821 600393 HGNC:3650 "ENST00000305885.3|NM_004111.6" HGNC:3651 FEN1P1 flap structure-specific endonuclease 1 pseudogene 1 pseudogene pseudogene Approved 1p22.2 01p22.2 FENL1 flap endonuclease-like 1 1995-04-19 2010-10-13 2010-10-13 2014-11-18 645931 ENSG00000215873 OTTHUMG00000010098 NG_005887 7774922 PGOHUM00000244791 HGNC:3651 HGNC:43894 FENDRR FOXF1 adjacent non-coding developmental regulatory RNA non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 "lincFOXF1|onco-lncRNA-21" FOXF1-AS1 FOXF1 antisense RNA 1 (head to head) Long non-coding RNAs with non-systematic symbols 1992 2012-04-25 2013-02-07 2013-02-07 2018-07-25 400550 ENSG00000268388 OTTHUMG00000183870 uc021tmg.2 AK091834 NR_033925 "24381249|23369715|19571010|23034409" MGI:1916040 RGD:9685086 614975 FENDRR HGNC:43894 -HGNC:3655 FER FER tyrosine kinase protein-coding gene gene with protein product Approved 5q21.3 05q21.3 "TYK3|PPP1R74" "phosphoprotein NCP94|protein phosphatase 1, regulatory subunit 74" fer (fps/fes related) tyrosine kinase "Protein phosphatase 1 regulatory subunits|SH2 domain containing|F-BAR domain containing |Fes family tyrosine kinases" "694|741|1288|1461" 1990-03-05 2016-01-21 2023-01-20 2241 ENSG00000151422 OTTHUMG00000128751 uc003kop.2 J03358 NM_005246 "CCDS4098|CCDS78044" P16591 2725517 MGI:105917 RGD:1306273 176942 objectId:2022 2.7.10.1 HGNC:3655 "ENST00000281092.9|NM_005246.4" +HGNC:3655 FER FER tyrosine kinase protein-coding gene gene with protein product Approved 5q21.3 05q21.3 "TYK3|PPP1R74" "phosphoprotein NCP94|protein phosphatase 1, regulatory subunit 74" fer (fps/fes related) tyrosine kinase "Protein phosphatase 1 regulatory subunits|SH2 domain containing|F-BAR domain containing |Fes family tyrosine kinases" "694|741|1288|1461" 1990-03-05 2016-01-21 2023-01-20 2241 ENSG00000151422 OTTHUMG00000128751 uc003kop.2 J03358 NM_005246 "CCDS78044|CCDS4098" P16591 2725517 MGI:105917 RGD:1306273 176942 objectId:2022 2.7.10.1 HGNC:3655 "ENST00000281092.9|NM_005246.4" HGNC:15801 FER1L4 fer-1 like family member 4 (pseudogene) pseudogene pseudogene Approved 20q11.22 20q11.22 "bA563A22B.1|dJ309K20.1" C20orf124 "fer-1-like 4 (C. elegans)|fer-1-like 4 (C. elegans), pseudogene (functional)|fer-1 like family member 4, pseudogene (functional)" Ferlin family 828 2001-09-17 2019-01-21 2019-01-21 80307 ENSG00000088340 OTTHUMG00000032354 AL121586 NR_024377 A9Z1Z3 "24063685|24961353" MGI:1921812 RGD:1308250 HGNC:15801 HGNC:19044 FER1L5 fer-1 like family member 5 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 DKFZp434I0121 fer-1-like 5 (C. elegans) Ferlin family 828 2005-10-04 2016-01-18 2023-03-15 90342 ENSG00000249715 OTTHUMG00000154929 uc061lwu.1 BC126368 NM_001077400 CCDS77438 A0AVI2 MGI:3616091 RGD:1583681 HGNC:19044 "ENST00000624922.6|NM_001293083.2" HGNC:28065 FER1L6 fer-1 like family member 6 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 C8ORFK23 fer-1-like 6 (C. elegans) Ferlin family 828 2007-04-24 2016-01-18 2023-01-20 654463 ENSG00000214814 OTTHUMG00000164998 uc003yqw.3 AB196633 NM_001039112 CCDS43767 Q2WGJ9 MGI:3645398 RGD:1564703 HGNC:28065 "ENST00000522917.5|NM_001039112.2" @@ -9116,27 +9117,27 @@ HGNC:26652 FER1L6-AS1 FER1L6 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:26534 FER1L6-AS2 FER1L6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 FLJ32770 C8orf78 "chromosome 8 open reading frame 78|FER1L6 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2006-02-14 2012-04-18 2012-08-15 2023-03-15 157376 ENSG00000253868 OTTHUMG00000165000 uc003yqy.3 AK057332 NR_103547 Q96M78 FER1L6-AS2 HGNC:26534 HGNC:16660 FERD3L Fer3 like bHLH transcription factor protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "NATO3|N-TWIST|bHLHa31" "Fer3-like (Drosophila)|Fer3-like bHLH transcription factor" Basic helix-loop-helix proteins 420 2002-12-09 2016-07-26 2023-01-20 222894 ENSG00000146618 OTTHUMG00000090823 uc003suo.1 AF369897 NM_152898 CCDS5368 Q96RJ6 "11472856|12217327" MGI:2150010 RGD:1311812 617578 HGNC:16660 "ENST00000275461.3|NM_152898.2" HGNC:15889 FERMT1 FERM domain containing kindlin 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "FLJ20116|URP1|KIND1|UNC112A" "kindlin-1|kinderlin" C20orf42 "chromosome 20 open reading frame 42|fermitin family homolog 1 (Drosophila)|fermitin family member 1" "Fermitins|Pleckstrin homology domain containing|FERM domain containing" "561|682|1293" 2001-06-21 2007-12-14 2021-02-11 2023-01-20 55612 ENSG00000101311 OTTHUMG00000031826 uc002wmr.3 AK000123 NM_017671 CCDS13098 Q9BQL6 "12697302|12789646" MGI:2443583 RGD:1306816 607900 159172 HGNC:15889 "ENST00000217289.9|NM_017671.5" HGNC:15889 -HGNC:15767 FERMT2 FERM domain containing kindlin 2 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "mig-2|KIND2|UNC112B" "kindlin-2|mitogen inducible gene-2" PLEKHC1 "pleckstrin homology domain containing, family C (with FERM domain) member 1|fermitin family homolog 2 (Drosophila)|fermitin family member 2" "Fermitins|Pleckstrin homology domain containing|FERM domain containing" "561|682|1293" 2003-04-23 2007-12-14 2021-02-11 2023-01-20 10979 ENSG00000073712 OTTHUMG00000140309 uc001xae.4 Z24725 NM_006832 "CCDS45107|CCDS9713|CCDS45108" Q96AC1 "8175911|12697302" MGI:2385001 RGD:1311799 607746 HGNC:15767 "ENST00000341590.8|NM_006832.3" +HGNC:15767 FERMT2 FERM domain containing kindlin 2 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "mig-2|KIND2|UNC112B" "kindlin-2|mitogen inducible gene-2" PLEKHC1 "pleckstrin homology domain containing, family C (with FERM domain) member 1|fermitin family homolog 2 (Drosophila)|fermitin family member 2" "Fermitins|Pleckstrin homology domain containing|FERM domain containing" "561|682|1293" 2003-04-23 2007-12-14 2021-02-11 2023-01-20 10979 ENSG00000073712 OTTHUMG00000140309 uc001xae.4 Z24725 NM_006832 "CCDS45108|CCDS45107|CCDS9713" Q96AC1 "8175911|12697302" MGI:2385001 RGD:1311799 607746 HGNC:15767 "ENST00000341590.8|NM_006832.3" HGNC:23151 FERMT3 FERM domain containing kindlin 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "URP2|KIND3|MIG2B|MGC10966|UNC112C" "kindlin-3|UNC-112 related protein 2" "fermitin family homolog 3 (Drosophila)|fermitin family member 3" "Fermitins|Pleckstrin homology domain containing|FERM domain containing" "561|682|1293" 2007-12-14 2021-02-11 2023-01-20 83706 ENSG00000149781 OTTHUMG00000167790 uc001nym.3 L25343 NM_031471 "CCDS8059|CCDS8060|CCDS91497" Q86UX7 MGI:2147790 RGD:1310168 LRG_180|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_180.xml 607901 178806 HGNC:23151 "ENST00000345728.10|NM_031471.6" HGNC:23151 HGNC:26443 FERP1 FER tyrosine kinase pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 FERps FERP "fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene|fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene 1" 2005-05-06 2010-03-12 2016-02-12 2016-02-12 553112 ENSG00000232149 OTTHUMG00000022329 AL030996 NG_005390 HGNC:26443 -HGNC:3657 FES FES proto-oncogene, tyrosine kinase protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FPS "Oncogene FES, feline sarcoma virus|c-fes/fps protein" "feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog|feline sarcoma oncogene" "SH2 domain containing|F-BAR domain containing |Fes family tyrosine kinases" "741|1288|1461" 2001-06-22 2014-06-26 2023-01-20 2242 ENSG00000182511 OTTHUMG00000044456 uc002bpv.4 X52192 NM_002005 "CCDS45351|CCDS10365|CCDS45349|CCDS45350" P07332 1870997 MGI:95514 RGD:1564385 FES 190030 objectId:2023 2.7.10.1 HGNC:3657 "ENST00000328850.8|NM_002005.4" -HGNC:3658 FETUB fetuin B protein-coding gene gene with protein product Approved 3q27.3 03q27.3 Cystatins, type 4 968 2000-05-05 2023-01-20 26998 ENSG00000090512 OTTHUMG00000156586 uc010hyq.4 AJ242928 NM_014375 "CCDS3279|CCDS77871|CCDS82884" Q9UGM5 10947975 MGI:1890221 RGD:69293 605954 HGNC:3658 "ENST00000265029.8|NM_014375.3" +HGNC:3657 FES FES proto-oncogene, tyrosine kinase protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FPS "Oncogene FES, feline sarcoma virus|c-fes/fps protein" "feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog|feline sarcoma oncogene" "SH2 domain containing|F-BAR domain containing |Fes family tyrosine kinases" "741|1288|1461" 2001-06-22 2014-06-26 2023-01-20 2242 ENSG00000182511 OTTHUMG00000044456 uc002bpv.4 X52192 NM_002005 "CCDS45350|CCDS10365|CCDS45351|CCDS45349" P07332 1870997 MGI:95514 RGD:1564385 FES 190030 objectId:2023 2.7.10.1 HGNC:3657 "ENST00000328850.8|NM_002005.4" +HGNC:3658 FETUB fetuin B protein-coding gene gene with protein product Approved 3q27.3 03q27.3 Cystatins, type 4 968 2000-05-05 2023-01-20 26998 ENSG00000090512 OTTHUMG00000156586 uc010hyq.4 AJ242928 NM_014375 "CCDS82884|CCDS3279|CCDS77871" Q9UGM5 10947975 MGI:1890221 RGD:69293 605954 HGNC:3658 "ENST00000265029.8|NM_014375.3" HGNC:18562 FEV FEV transcription factor, ETS family member protein-coding gene gene with protein product Approved 2q35 02q35 Pet-1 "FEV (fifth Ewing variant)|FEV (ETS oncogene family)|FEV, ETS transcription factor" ETS transcription factor family 534 2004-03-19 2019-01-25 2023-01-20 54738 ENSG00000163497 OTTHUMG00000133080 uc002vji.1 NM_017521 CCDS2428 Q99581 9121764 MGI:2449712 RGD:628860 FEV 607150 HGNC:18562 "ENST00000295727.2|NM_017521.3" -HGNC:3659 FEZ1 fasciculation and elongation protein zeta 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 UNC-76 zygin I 1999-12-14 2015-11-10 2023-01-20 9638 ENSG00000149557 OTTHUMG00000165886 uc001qbx.4 U60060 NM_005103 "CCDS31716|CCDS44758" Q99689 "9096408|15843383" MGI:2670976 RGD:619708 604825 HGNC:3659 "ENST00000278919.8|NM_005103.5" +HGNC:3659 FEZ1 fasciculation and elongation protein zeta 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 UNC-76 zygin I 1999-12-14 2015-11-10 2023-01-20 9638 ENSG00000149557 OTTHUMG00000165886 uc001qbx.4 U60060 NM_005103 "CCDS44758|CCDS31716" Q99689 "9096408|15843383" MGI:2670976 RGD:619708 604825 HGNC:3659 "ENST00000278919.8|NM_005103.5" HGNC:3660 FEZ2 fasciculation and elongation protein zeta 2 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 zygin II 1999-12-14 2016-01-12 2023-01-20 9637 ENSG00000171055 OTTHUMG00000152148 uc002rpg.3 U60061 NM_001042548 "CCDS46257|CCDS46258" Q9UHY8 9096408 MGI:2675856 RGD:619709 604826 HGNC:3660 "ENST00000405912.8|NM_005102.3" -HGNC:22788 FEZF1 FEZ family zinc finger 1 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 ZNF312B zinc finger protein 312B Zinc fingers C2H2-type 28 2006-08-14 2006-08-15 2006-08-15 2023-01-20 389549 ENSG00000128610 OTTHUMG00000157091 uc003vkd.4 AY726588 NM_001024613 "CCDS34741|CCDS55157" A0PJY2 MGI:1920441 RGD:1560480 613301 410849 HGNC:22788 "ENST00000442488.7|NM_001024613.4" HGNC:22788 +HGNC:22788 FEZF1 FEZ family zinc finger 1 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 ZNF312B zinc finger protein 312B Zinc fingers C2H2-type 28 2006-08-14 2006-08-15 2006-08-15 2023-01-20 389549 ENSG00000128610 OTTHUMG00000157091 uc003vkd.4 AY726588 NM_001024613 "CCDS55157|CCDS34741" A0PJY2 MGI:1920441 RGD:1560480 613301 410849 HGNC:22788 "ENST00000442488.7|NM_001024613.4" HGNC:22788 HGNC:41001 FEZF1-AS1 FEZF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.32 07q31.32 FEZF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2018-06-07 154860 ENSG00000230316 OTTHUMG00000157095 uc010lko.2 AK057037 NR_036484 "26848625|28209170|29864963" FEZF1-AS1 HGNC:41001 HGNC:13506 FEZF2 FEZ family zinc finger 2 protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "FLJ10142|FKSG36|TOF|FEZL|Zfp312" "too few|forebrain embryonic zinc finger-like protein" ZNF312 zinc finger protein 312 Zinc fingers C2H2-type 28 2004-07-15 2006-08-15 2006-08-15 2023-01-20 55079 ENSG00000153266 OTTHUMG00000158705 uc062lcz.1 AF064845 NM_018008 CCDS2897 Q8TBJ5 MGI:1859823 RGD:1311068 607414 HGNC:13506 "ENST00000283268.8|NM_018008.4" HGNC:4498 FFAR1 free fatty acid receptor 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FFA1R GPR40 G protein-coupled receptor 40 Free fatty acid receptors 203 1997-10-10 2006-02-15 2006-02-15 2023-01-20 2864 ENSG00000126266 OTTHUMG00000188261 uc002nzc.3 AF024687 NM_005303 CCDS12458 O14842 15684720 MGI:2684079 RGD:628613 603820 objectId:225 HGNC:4498 "ENST00000246553.4|NM_005303.3" HGNC:4501 FFAR2 free fatty acid receptor 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FFA2R GPR43 G protein-coupled receptor 43 Free fatty acid receptors 203 1997-10-10 2006-02-15 2006-02-15 2023-01-20 2867 ENSG00000126262 OTTHUMG00000183303 uc010eea.4 AF024690 NM_005306 CCDS12461 O15552 9344866 MGI:2441731 RGD:1359614 603823 objectId:226 HGNC:4501 "ENST00000599180.3|NM_001370087.1" HGNC:4499 FFAR3 free fatty acid receptor 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FFA3R GPR41 G protein-coupled receptor 41 Free fatty acid receptors 203 1997-10-10 2006-02-15 2006-02-15 2023-01-20 2865 ENSG00000185897 OTTHUMG00000172514 uc002nzd.4 AF024688 NM_005304 CCDS12459 O14843 "9344866|22493486" MGI:2685324 RGD:1311035 603821 objectId:227 HGNC:4499 "ENST00000327809.5|NM_005304.5" HGNC:19061 FFAR4 free fatty acid receptor 4 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 PGR4 "GPR129|GPR120|O3FAR1" "G protein-coupled receptor 129|G protein-coupled receptor 120|omega-3 fatty acid receptor 1" Free fatty acid receptors 203 2003-08-22 2012-11-16 2012-11-16 2023-01-20 338557 ENSG00000186188 OTTHUMG00000034409 uc010qnu.2 NM_181745 "CCDS55720|CCDS31248" Q5NUL3 "20471368|19723586|15619630|20813258" MGI:2147577 RGD:1308252 609044 objectId:127 HGNC:19061 "ENST00000371481.9|NM_001195755.2" -HGNC:3661 FGA fibrinogen alpha chain protein-coding gene gene with protein product Approved 4q31.3 04q31.3 fibrinogen, A alpha polypeptide "Receptor ligands|Fibrinogen C domain containing" "542|554" 2001-06-22 2023-01-20 2243 ENSG00000171560 OTTHUMG00000150330 uc003iod.2 NM_000508 "CCDS3787|CCDS47152" P02671 MGI:1316726 RGD:2603 LRG_557|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_557.xml 134820 121786 ligandId:6750 HGNC:3661 "ENST00000403106.8|NM_021871.4" HGNC:3661 +HGNC:3661 FGA fibrinogen alpha chain protein-coding gene gene with protein product Approved 4q31.3 04q31.3 fibrinogen, A alpha polypeptide "Receptor ligands|Fibrinogen C domain containing" "542|554" 2001-06-22 2023-01-20 2243 ENSG00000171560 OTTHUMG00000150330 uc003iod.2 NM_000508 "CCDS47152|CCDS3787" P02671 MGI:1316726 RGD:2603 LRG_557|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_557.xml 134820 121786 ligandId:6750 HGNC:3661 "ENST00000403106.8|NM_021871.4" HGNC:3661 HGNC:3662 FGB fibrinogen beta chain protein-coding gene gene with protein product Approved 4q31.3 04q31.3 fibrinogen, B beta polypeptide "Receptor ligands|Fibrinogen C domain containing" "542|554" 2001-06-22 2023-01-20 2244 ENSG00000171564 OTTHUMG00000150331 uc003ioa.5 NM_005141 CCDS3786 P02675 MGI:99501 RGD:2604 LRG_558|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_558.xml 134830 121788 ligandId:6751 HGNC:3662 "ENST00000302068.9|NM_005141.5" HGNC:3662 HGNC:3663 FGD1 FYVE, RhoGEF and PH domain containing 1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 ZFYVE3 FGDY faciogenital dysplasia (Aarskog-Scott syndrome) "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 1986-01-01 2008-08-01 2023-01-20 2245 ENSG00000102302 OTTHUMG00000021627 uc004dtg.3 U11690 NM_004463 CCDS14359 P98174 MGI:104566 RGD:1565188 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FGD1 300546 121790 HGNC:3663 "ENST00000375135.4|NM_004463.3" HGNC:3663 HGNC:3664 FGD2 FYVE, RhoGEF and PH domain containing 2 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 ZFYVE4 FGD1 family, member 2 "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 1999-05-17 2004-08-24 2023-01-20 221472 ENSG00000146192 OTTHUMG00000014616 uc010jwp.2 AK097230 NM_173558 CCDS4829 Q7Z6J4 10458911 MGI:1347084 RGD:1309840 605091 HGNC:3664 "ENST00000274963.13|NM_173558.4" -HGNC:16027 FGD3 FYVE, RhoGEF and PH domain containing 3 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "FLJ00004|ZFYVE5" FGD1 family, member 3 "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 2001-07-02 2004-08-24 2023-01-20 89846 ENSG00000127084 OTTHUMG00000021032 uc004asw.3 AK000004 NM_033086 "CCDS43849|CCDS69619" Q5JSP0 11214971 MGI:1353657 RGD:1311725 617554 HGNC:16027 "ENST00000375482.8|NM_001083536.2" -HGNC:19125 FGD4 FYVE, RhoGEF and PH domain containing 4 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "FRABP|frabin|ZFYVE6|CMT4H" FGD1 family, member 4 "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 2003-11-25 2004-08-24 2023-03-15 121512 ENSG00000139132 OTTHUMG00000137374 uc001rkz.5 AK057294 NM_139241 "CCDS76544|CCDS81679|CCDS8727|CCDS91681|CCDS91680" Q96M96 11527409 MGI:2183747 RGD:708357 LRG_240|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_240.xml 611104 138570 HGNC:19125 "ENST00000534526.7|NM_001370298.3" HGNC:19125 +HGNC:16027 FGD3 FYVE, RhoGEF and PH domain containing 3 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "FLJ00004|ZFYVE5" FGD1 family, member 3 "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 2001-07-02 2004-08-24 2023-01-20 89846 ENSG00000127084 OTTHUMG00000021032 uc004asw.3 AK000004 NM_033086 "CCDS69619|CCDS43849" Q5JSP0 11214971 MGI:1353657 RGD:1311725 617554 HGNC:16027 "ENST00000375482.8|NM_001083536.2" +HGNC:19125 FGD4 FYVE, RhoGEF and PH domain containing 4 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "FRABP|frabin|ZFYVE6|CMT4H" FGD1 family, member 4 "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 2003-11-25 2004-08-24 2023-03-15 121512 ENSG00000139132 OTTHUMG00000137374 uc001rkz.5 AK057294 NM_139241 "CCDS8727|CCDS81679|CCDS91680|CCDS91681|CCDS76544" Q96M96 11527409 MGI:2183747 RGD:708357 LRG_240|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_240.xml 611104 138570 HGNC:19125 "ENST00000534526.7|NM_001370298.3" HGNC:19125 HGNC:19117 FGD5 FYVE, RhoGEF and PH domain containing 5 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "ZFYVE23|FLJ39957|FLJ00274" "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 2003-11-25 2023-01-20 152273 ENSG00000154783 OTTHUMG00000155556 uc003bzc.4 AK097276 NM_152536 CCDS46767 Q6ZNL6 MGI:2443369 RGD:1305589 614788 HGNC:19117 "ENST00000285046.10|NM_152536.4" HGNC:40410 FGD5-AS1 FGD5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 FGD5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-10-20 2012-08-15 2019-07-24 100505641 ENSG00000225733 OTTHUMG00000155555 uc062hao.1 BC033386 NR_046251 "31144533|31332696" FGD5-AS1 HGNC:40410 HGNC:44498 FGD5P1 FYVE, RhoGEF and PH domain containing 5 pseudogene 1 pseudogene pseudogene Approved 3p25.1 03p25.1 2012-11-07 2015-02-03 100132526 ENSG00000275340 OTTHUMG00000160207 NR_036481 PGOHUM00000299356 HGNC:44498 @@ -9156,47 +9157,47 @@ HGNC:33588 FGF7P5 fibroblast growth factor 7 pseudogene 5 pseudogene pseudogene HGNC:27852 FGF7P6 fibroblast growth factor 7 pseudogene 6 pseudogene pseudogene Approved 9q13 09q13 KGFLP1 2016-07-12 2016-07-12 387628 ENSG00000227449 OTTHUMG00000013302 AY098593 NR_003674 15809711 PGOHUM00000304245 HGNC:27852 HGNC:33589 FGF7P7 fibroblast growth factor 7 pseudogene 7 pseudogene pseudogene Approved 9q13 09q13 2016-07-12 2016-07-12 728433 ENSG00000204801 OTTHUMG00000058630 NG_006614 PGOHUM00000303860 HGNC:33589 HGNC:34516 FGF7P8 fibroblast growth factor 7 pseudogene 8 pseudogene pseudogene Approved 9q13 09q13 2016-07-12 2016-07-12 100113421 ENSG00000219693 OTTHUMG00000067257 NG_006615 PGOHUM00000304253 HGNC:34516 -HGNC:3686 FGF8 fibroblast growth factor 8 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 AIGF androgen-induced growth factor fibroblast growth factor 8 (androgen-induced) "Receptor ligands|Fibroblast growth factor family" "542|1895" 1995-08-15 2015-12-04 2023-01-20 2253 ENSG00000107831 OTTHUMG00000018940 uc001ktq.3 D38752 "NM_006119|NM_033165" "CCDS7516|CCDS7517|CCDS7515|CCDS7518|CCDS73185" P55075 8595889 MGI:99604 RGD:70891 600483 173149 ligandId:4929 HGNC:3686 "ENST00000320185.7|NM_033163.5" HGNC:3686 +HGNC:3686 FGF8 fibroblast growth factor 8 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 AIGF androgen-induced growth factor fibroblast growth factor 8 (androgen-induced) "Receptor ligands|Fibroblast growth factor family" "542|1895" 1995-08-15 2015-12-04 2023-01-20 2253 ENSG00000107831 OTTHUMG00000018940 uc001ktq.3 D38752 "NM_006119|NM_033165" "CCDS7515|CCDS7517|CCDS73185|CCDS7518|CCDS7516" P55075 8595889 MGI:99604 RGD:70891 600483 173149 ligandId:4929 HGNC:3686 "ENST00000320185.7|NM_033163.5" HGNC:3686 HGNC:3687 FGF9 fibroblast growth factor 9 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 glia-activating factor fibroblast growth factor 9 (glia-activating factor) "Receptor ligands|Fibroblast growth factor family" "542|1895" 1995-08-15 2013-06-18 2023-01-20 2254 ENSG00000102678 OTTHUMG00000017412 uc001uog.3 D14838 NM_002010 CCDS9298 P31371 8321227 MGI:104723 RGD:2610 600921 201587 ligandId:4930 HGNC:3687 "ENST00000382353.6|NM_002010.3" HGNC:3687 HGNC:3666 FGF10 fibroblast growth factor 10 protein-coding gene gene with protein product Approved 5p12 05p12 "Receptor ligands|Fibroblast growth factor family" "542|1895" 1996-12-16 2023-01-20 2255 ENSG00000070193 OTTHUMG00000131153 uc003jog.2 NM_004465 CCDS3950 O15520 9287324 MGI:1099809 RGD:2606 602115 121794 ligandId:9641 HGNC:3666 "ENST00000264664.5|NM_004465.2" HGNC:3666 HGNC:49382 FGF10-AS1 FGF10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p12 05p12 RP11-473L15.2 Antisense RNAs 1987 2013-10-22 2013-10-23 101927075 ENSG00000248464 OTTHUMG00000162233 BC042062 NR_108034 24147006 FGF10-AS1 HGNC:49382 HGNC:3667 FGF11 fibroblast growth factor 11 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FHF3|FLJ16061|MGC45269|MGC102953" fibroblast growth factor homologous factor 3 Fibroblast growth factor family 1895 1996-10-26 2023-01-20 2256 ENSG00000161958 OTTHUMG00000108136 uc002ggz.4 NM_004112 CCDS11105 Q92914 8790420 MGI:109167 RGD:620162 601514 HGNC:3667 "ENST00000293829.9|NM_004112.4" -HGNC:3668 FGF12 fibroblast growth factor 12 protein-coding gene gene with protein product Approved 3q28-q29 03q28-q29 FHF1 "fibroblast growth factor 12B|fibroblast growth factor homologous factor 1|myocyte-activating factor|fibroblast growth factor FGF-12b" FGF12B Fibroblast growth factor family 1895 1996-10-26 2023-01-20 2257 ENSG00000114279 OTTHUMG00000156132 uc003fsx.4 U66197 NM_021032 "CCDS3301|CCDS93436|CCDS93437|CCDS46983" P61328 "8790420|9345906" MGI:109183 RGD:620163 601513 466400 HGNC:3668 "ENST00000445105.7|NM_004113.6" HGNC:3668 +HGNC:3668 FGF12 fibroblast growth factor 12 protein-coding gene gene with protein product Approved 3q28-q29 03q28-q29 FHF1 "fibroblast growth factor 12B|fibroblast growth factor homologous factor 1|myocyte-activating factor|fibroblast growth factor FGF-12b" FGF12B Fibroblast growth factor family 1895 1996-10-26 2023-01-20 2257 ENSG00000114279 OTTHUMG00000156132 uc003fsx.4 U66197 NM_021032 "CCDS93436|CCDS93437|CCDS3301|CCDS46983" P61328 "8790420|9345906" MGI:109183 RGD:620163 601513 466400 HGNC:3668 "ENST00000445105.7|NM_004113.6" HGNC:3668 HGNC:40234 FGF12-AS1 FGF12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 FGF12 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873986 ENSG00000231383 OTTHUMG00000156141 uc062rll.1 NR_046596 FGF12-AS1 HGNC:40234 HGNC:40235 FGF12-AS2 FGF12 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q28 03q28 FGF12 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-07-23 100873987 ENSG00000230126 OTTHUMG00000156143 uc062rlm.1 NR_046598 HGNC:40235 -HGNC:40236 FGF12-AS3 FGF12 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3q28 03q28 FGF12 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873988 ENSG00000226709 OTTHUMG00000156142 uc062rln.1 HGNC:40236 -HGNC:3670 FGF13 fibroblast growth factor 13 protein-coding gene gene with protein product Approved Xq26.3-q27.1 Xq26.3-q27.1 "FHF2|FGF2|FLJ30672" fibroblast growth factor homologous factor 2 LINC00889 long intergenic non-protein coding RNA 889 "MicroRNA protein coding host genes|Fibroblast growth factor family" "1691|1895" 1996-12-16 2023-01-20 2258 ENSG00000129682 OTTHUMG00000022532 uc004fal.4 BC034340 NM_004114 "CCDS55512|CCDS14664|CCDS14665|CCDS55511|CCDS55513" Q92913 8790420 MGI:109178 RGD:620164 300070 470330 HGNC:3670 "ENST00000315930.11|NM_004114.5" HGNC:3670 +HGNC:40236 FGF12-AS3 FGF12 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3q28 03q28 FGF12 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873988 ENSG00000226709 OTTHUMG00000156142 uc062rln.1 NR_185499 HGNC:40236 +HGNC:3670 FGF13 fibroblast growth factor 13 protein-coding gene gene with protein product Approved Xq26.3-q27.1 Xq26.3-q27.1 "FHF2|FGF2|FLJ30672" fibroblast growth factor homologous factor 2 LINC00889 long intergenic non-protein coding RNA 889 "MicroRNA protein coding host genes|Fibroblast growth factor family" "1691|1895" 1996-12-16 2023-01-20 2258 ENSG00000129682 OTTHUMG00000022532 uc004fal.4 BC034340 NM_004114 "CCDS55511|CCDS14665|CCDS55512|CCDS14664|CCDS55513" Q92913 8790420 MGI:109178 RGD:620164 300070 470330 HGNC:3670 "ENST00000315930.11|NM_004114.5" HGNC:3670 HGNC:44264 FGF13-AS1 FGF13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 FGF13 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-01 2012-08-15 2012-10-12 100129662 ENSG00000226031 OTTHUMG00000137416 uc065bjd.1 BC023610 NR_038405 301087 FGF13-AS1 HGNC:44264 HGNC:3671 FGF14 fibroblast growth factor 14 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 "FHF4|SCA27" "MicroRNA protein coding host genes|Fibroblast growth factor family" "1691|1895" 1996-12-18 2023-01-20 2259 ENSG00000102466 OTTHUMG00000017303 uc001vpe.3 NM_001321931 "CCDS9500|CCDS9501" Q92915 "8790420|17236779" MGI:109189 RGD:620165 601515 121796 HGNC:3671 "ENST00000376143.5|NM_004115.4" HGNC:3671 HGNC:40237 FGF14-AS1 FGF14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q33.1 13q33.1 FGF14 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874081 ENSG00000234445 OTTHUMG00000017302 uc058ybu.1 AI217925 NR_125912 FGF14-AS1 HGNC:40237 HGNC:44368 FGF14-AS2 FGF14 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q33.1 13q33.1 Antisense RNAs 1987 2012-09-12 2016-12-01 283481 ENSG00000272143 OTTHUMG00000185723 uc058ybv.1 "BC033993|BM674599|BX096285" NR_036487 26820525 FGF14-AS2 HGNC:44368 HGNC:42774 FGF14-IT1 FGF14 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q33.1 13q33.1 FGF14 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-08-18 2015-02-25 2015-02-25 283480 ENSG00000243319 OTTHUMG00000017301 uc001vph.3 NR_036486 FGF14-IT1 HGNC:42774 HGNC:3672 FGF16 fibroblast growth factor 16 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 MF4 metacarpal 4-5 fusion Fibroblast growth factor family 1895 1998-12-22 2023-01-20 8823 ENSG00000196468 OTTHUMG00000013133 uc033ejs.2 AB009391 NM_003868 CCDS75996 O43320 "9473496|11474196|23709756" MGI:1931627 RGD:71052 300827 364799 HGNC:3672 "ENST00000439435.3|NM_003868.3" HGNC:3672 -HGNC:3673 FGF17 fibroblast growth factor 17 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 FGF-13 Fibroblast growth factor family 1895 1998-12-22 2023-01-20 8822 ENSG00000158815 OTTHUMG00000097051 uc003xag.4 AB009249 NM_003867 "CCDS6019|CCDS78310" O60258 "9514906|9751161" MGI:1202401 RGD:2607 603725 353741 HGNC:3673 "ENST00000359441.4|NM_003867.4" HGNC:3673 +HGNC:3673 FGF17 fibroblast growth factor 17 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 FGF-13 Fibroblast growth factor family 1895 1998-12-22 2023-01-20 8822 ENSG00000158815 OTTHUMG00000097051 uc003xag.4 AB009249 NM_003867 "CCDS78310|CCDS6019" O60258 "9514906|9751161" MGI:1202401 RGD:2607 603725 353741 HGNC:3673 "ENST00000359441.4|NM_003867.4" HGNC:3673 HGNC:3674 FGF18 fibroblast growth factor 18 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "FGF-18|ZFGF5" Fibroblast growth factor family 1895 1998-12-22 2023-01-20 8817 ENSG00000156427 OTTHUMG00000130464 uc003mbk.4 AB007422 "NM_033649|NM_003862" CCDS4378 O76093 "9660775|9742123" MGI:1277980 RGD:2608 603726 ligandId:10974 HGNC:3674 "ENST00000274625.6|NM_003862.3" HGNC:3675 FGF19 fibroblast growth factor 19 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 Fibroblast growth factor family 1895 1999-05-06 2023-01-20 9965 ENSG00000162344 OTTHUMG00000167886 uc001opf.4 AB018122 NM_005117 CCDS8193 O95750 "9931477|10525310" MGI:1096383 RGD:620166 603891 ligandId:11545 HGNC:3675 "ENST00000294312.4|NM_005117.3" HGNC:3677 FGF20 fibroblast growth factor 20 protein-coding gene gene with protein product Approved 8p22 08p22 Fibroblast growth factor family 1895 1999-11-19 2023-01-20 26281 ENSG00000078579 OTTHUMG00000096964 uc003wxc.2 AB030648 NM_019851 CCDS5998 Q9NP95 10913340 MGI:1891346 RGD:71068 605558 401132 HGNC:3677 "ENST00000180166.6|NM_019851.3" HGNC:3677 HGNC:3678 FGF21 fibroblast growth factor 21 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Fibroblast growth factor family 1895 1999-11-26 2023-01-20 26291 ENSG00000105550 OTTHUMG00000183326 uc002pkn.2 AB021975 NM_019113 CCDS12734 Q9NSA1 10858549 MGI:1861377 RGD:620175 609436 ligandId:11721 HGNC:3678 "ENST00000593756.6|NM_019113.4" -HGNC:3679 FGF22 fibroblast growth factor 22 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Fibroblast growth factor family 1895 1999-12-20 2023-01-20 27006 ENSG00000070388 OTTHUMG00000180591 uc010xfq.4 NM_001300812 "CCDS12037|CCDS74241" Q9HCT0 "15260994|16597617" MGI:1914362 RGD:620177 605831 HGNC:3679 "ENST00000215530.7|NM_020637.2" +HGNC:3679 FGF22 fibroblast growth factor 22 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Fibroblast growth factor family 1895 1999-12-20 2023-01-20 27006 ENSG00000070388 OTTHUMG00000180591 uc010xfq.4 NM_001300812 "CCDS74241|CCDS12037" Q9HCT0 "15260994|16597617" MGI:1914362 RGD:620177 605831 HGNC:3679 "ENST00000215530.7|NM_020637.2" HGNC:3680 FGF23 fibroblast growth factor 23 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "Receptor ligands|Fibroblast growth factor family" "542|1895" 2000-05-16 2023-01-20 8074 ENSG00000118972 OTTHUMG00000168241 uc001qmq.1 AF263537 NM_020638 CCDS8526 Q9GZV9 "11032749|18310961" MGI:1891427 RGD:620178 605380 121800 ligandId:9291 HGNC:3680 "ENST00000237837.2|NM_020638.3" HGNC:3680 HGNC:19695 FGFBP1 fibroblast growth factor binding protein 1 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "HBP17|FGFBP" 2004-06-23 2023-01-20 9982 ENSG00000137440 OTTHUMG00000097745 uc003gom.4 M60047 NM_005130 CCDS3418 Q14512 "11148217|1885605" MGI:1096350 RGD:621211 607737 HGNC:19695 "ENST00000382333.2|NM_005130.5" HGNC:29451 FGFBP2 fibroblast growth factor binding protein 2 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 KSP37 killer-specific secretory protein of 37 kDa 2006-12-14 2023-01-20 83888 ENSG00000137441 OTTHUMG00000128513 uc003gon.4 AB021123 NM_031950 CCDS3419 Q9BYJ0 "11342666|12322897" 607713 HGNC:29451 "ENST00000259989.7|NM_031950.4" HGNC:23428 FGFBP3 fibroblast growth factor binding protein 3 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 MGC39320 C10orf13 chromosome 10 open reading frame 13 2003-11-18 2006-12-14 2006-12-14 2023-01-20 143282 ENSG00000174721 OTTHUMG00000018751 uc001khq.5 AK075410 NM_152429 CCDS7418 Q8TAT2 MGI:1919764 RGD:1560326 HGNC:23428 "ENST00000311575.6|NM_152429.5" -HGNC:3688 FGFR1 fibroblast growth factor receptor 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "H2|H3|H4|H5|CEK|FLG|BFGFR|N-SAM|CD331" Pfeiffer syndrome "FLT2|KAL2" fms-related tyrosine kinase 2 "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1992-02-25 2008-08-01 2023-03-15 2260 ENSG00000077782 OTTHUMG00000147366 uc064mbw.1 M34185 NM_001174063 "CCDS94283|CCDS6107|CCDS43730|CCDS94284|CCDS43732|CCDS43731|CCDS55221|CCDS94285|CCDS55222" P11362 2162671 MGI:95522 RGD:620713 LRG_993|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_993.xml FGFR1 136350 121802 objectId:1808 CD331 2.7.10.1 HGNC:3688 "ENST00000447712.7|NM_023110.3" HGNC:3688 -HGNC:23098 FGFR1OP2 FGFR1 oncogene partner 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 DKFZp564O1863 STRIPAK complex 1371 2003-09-11 2023-01-20 26127 ENSG00000111790 OTTHUMG00000169231 uc001rhn.4 AF161472 NM_015633 "CCDS53766|CCDS53767|CCDS8709" Q9NVK5 15034873 MGI:1914779 RGD:1303233 608858 HGNC:23098 "ENST00000229395.8|NM_015633.3" +HGNC:3688 FGFR1 fibroblast growth factor receptor 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "H2|H3|H4|H5|CEK|FLG|BFGFR|N-SAM|CD331" Pfeiffer syndrome "FLT2|KAL2" fms-related tyrosine kinase 2 "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1992-02-25 2008-08-01 2023-03-15 2260 ENSG00000077782 OTTHUMG00000147366 uc064mbw.1 M34185 NM_001174063 "CCDS94283|CCDS43732|CCDS55221|CCDS6107|CCDS43731|CCDS94284|CCDS55222|CCDS94285|CCDS43730" P11362 2162671 MGI:95522 RGD:620713 LRG_993|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_993.xml FGFR1 136350 121802 objectId:1808 CD331 2.7.10.1 HGNC:3688 "ENST00000447712.7|NM_023110.3" HGNC:3688 +HGNC:23098 FGFR1OP2 FGFR1 oncogene partner 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 DKFZp564O1863 STRIPAK complex 1371 2003-09-11 2023-01-20 26127 ENSG00000111790 OTTHUMG00000169231 uc001rhn.4 AF161472 NM_015633 "CCDS53766|CCDS8709|CCDS53767" Q9NVK5 15034873 MGI:1914779 RGD:1303233 608858 HGNC:23098 "ENST00000229395.8|NM_015633.3" HGNC:39706 FGFR1OP2P1 FGFR1 oncogene partner 2 pseudogene 1 pseudogene pseudogene Approved 13q12.13 13q12.13 2011-03-23 2011-03-23 100873883 ENSG00000230256 OTTHUMG00000016622 NG_032350 PGOHUM00000248548 HGNC:39706 -HGNC:3689 FGFR2 fibroblast growth factor receptor 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "CEK3|TK14|TK25|ECT1|K-SAM|CD332" "Crouzon syndrome|Pfeiffer syndrome" "KGFR|BEK|CFD1|JWS" "bacteria-expressed kinase|keratinocyte growth factor receptor|craniofacial dysostosis 1|Jackson-Weiss syndrome" "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1991-05-09 2008-08-01 2023-03-15 2263 ENSG00000066468 OTTHUMG00000019175 uc057wle.1 AK026508 "NM_022976|NM_000141" "CCDS44487|CCDS81514|CCDS44488|CCDS31298|CCDS73210|CCDS81515|CCDS44485|CCDS7620|CCDS44489|CCDS44486|CCDS53584" P21802 MGI:95523 RGD:2611 LRG_994|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_994.xml FGFR2 176943 132262 objectId:1809 CD332 HGNC:3689 "ENST00000358487.10|NM_000141.5" HGNC:3689 -HGNC:3690 FGFR3 fibroblast growth factor receptor 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "CEK2|JTK4|CD333" ACH achondroplasia, thanatophoric dwarfism "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1991-06-07 2008-08-01 2023-01-20 2261 ENSG00000068078 OTTHUMG00000121148 uc003gdr.3 M64347 NM_000142 "CCDS3353|CCDS3354|CCDS87200|CCDS54706" P22607 1847508 MGI:95524 RGD:620714 LRG_1021|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1021.xml FGFR3 134934 121815 objectId:1810 CD333 HGNC:3690 "ENST00000440486.8|NM_000142.5" HGNC:3690 +HGNC:3689 FGFR2 fibroblast growth factor receptor 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "CEK3|TK14|TK25|ECT1|K-SAM|CD332" "Crouzon syndrome|Pfeiffer syndrome" "KGFR|BEK|CFD1|JWS" "bacteria-expressed kinase|keratinocyte growth factor receptor|craniofacial dysostosis 1|Jackson-Weiss syndrome" "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1991-05-09 2008-08-01 2023-03-15 2263 ENSG00000066468 OTTHUMG00000019175 uc057wle.1 AK026508 "NM_022976|NM_000141" "CCDS44487|CCDS44488|CCDS44486|CCDS44489|CCDS81514|CCDS44485|CCDS7620|CCDS81515|CCDS53584|CCDS31298|CCDS73210" P21802 MGI:95523 RGD:2611 LRG_994|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_994.xml FGFR2 176943 132262 objectId:1809 CD332 HGNC:3689 "ENST00000358487.10|NM_000141.5" HGNC:3689 +HGNC:3690 FGFR3 fibroblast growth factor receptor 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "CEK2|JTK4|CD333" ACH achondroplasia, thanatophoric dwarfism "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1991-06-07 2008-08-01 2023-01-20 2261 ENSG00000068078 OTTHUMG00000121148 uc003gdr.3 M64347 NM_000142 "CCDS3354|CCDS3353|CCDS54706|CCDS87200" P22607 1847508 MGI:95524 RGD:620714 LRG_1021|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1021.xml FGFR3 134934 121815 objectId:1810 CD333 HGNC:3690 "ENST00000440486.8|NM_000142.5" HGNC:3690 HGNC:21664 FGFR3P1 fibroblast growth factor receptor 3 pseudogene 1 pseudogene pseudogene Approved 6p21.33 06p21.33 D84394.2 "FGFR3P|FGFR6" "fibroblast growth factor receptor 3 pseudogene|fibroblast growth factor receptor 6" 2003-11-26 2010-03-12 2010-03-12 2014-11-19 100462812 ENSG00000230994 OTTHUMG00000031234 NG_025930 PGOHUM00000243582 HGNC:21664 HGNC:37947 FGFR3P2 fibroblast growth factor receptor 3 pseudogene 2 pseudogene pseudogene Approved 11q21 11q21 2010-03-12 2014-11-19 100462815 NG_021799 PGOHUM00000242432 HGNC:37947 HGNC:37948 FGFR3P3 fibroblast growth factor receptor 3 pseudogene 3 pseudogene pseudogene Approved 20p12.3 20p12.3 2010-03-12 2014-11-19 100462816 NG_021985 PGOHUM00000247587 HGNC:37948 HGNC:37949 FGFR3P4 fibroblast growth factor receptor 3 pseudogene 4 pseudogene pseudogene Approved 3q26.32 03q26.32 2010-03-12 2022-11-03 100420833 ENSG00000277241 NG_022229 PGOHUM00000237874 HGNC:37949 HGNC:37950 FGFR3P5 fibroblast growth factor receptor 3 pseudogene 5 pseudogene pseudogene Approved 16p11.2 16p11.2 2010-03-12 2014-11-19 100420952 ENSG00000260984 OTTHUMG00000176658 NG_022502 PGOHUM00000248856 HGNC:37950 HGNC:37951 FGFR3P6 fibroblast growth factor receptor 3 pseudogene 6 pseudogene pseudogene Approved 1q44 01q44 2010-03-12 2014-11-19 100420881 ENSG00000226164 OTTHUMG00000041166 NG_022833 PGOHUM00000245293 HGNC:37951 -HGNC:3691 FGFR4 fibroblast growth factor receptor 4 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "JTK2|CD334" "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1991-07-25 2023-01-20 2264 ENSG00000160867 OTTHUMG00000151523 uc003mfm.4 AF202063 NM_001291980 "CCDS4411|CCDS4410|CCDS78096" P22455 MGI:95525 RGD:2612 FGFR4 134935 470334 objectId:1811 CD334 HGNC:3691 "ENST00000292408.9|NM_213647.3" +HGNC:3691 FGFR4 fibroblast growth factor receptor 4 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "JTK2|CD334" "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1991-07-25 2023-01-20 2264 ENSG00000160867 OTTHUMG00000151523 uc003mfm.4 AF202063 NM_001291980 "CCDS4410|CCDS4411|CCDS78096" P22455 MGI:95525 RGD:2612 FGFR4 134935 470334 objectId:1811 CD334 HGNC:3691 "ENST00000292408.9|NM_213647.3" HGNC:3693 FGFRL1 fibroblast growth factor receptor like 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 2000-05-23 2017-06-13 2023-01-20 53834 ENSG00000127418 OTTHUMG00000118998 uc062uil.1 NM_021923 CCDS3344 Q8N441 21080029 MGI:2150920 RGD:735156 605830 HGNC:3693 "ENST00000510644.6|NM_001004356.3" HGNC:3694 FGG fibrinogen gamma chain protein-coding gene gene with protein product Approved 4q32.1 04q32.1 fibrinogen, gamma polypeptide "Receptor ligands|Fibrinogen C domain containing" "542|554" 2001-06-22 2023-01-20 2266 ENSG00000171557 OTTHUMG00000150329 uc003iog.4 NM_021870 "CCDS3788|CCDS47153" P02679 MGI:95526 RGD:2613 "LOVD EAHAD Coagulation Factor Variant Database|https://databases.lovd.nl/shared/genes/FGG|LRG_585|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_585.xml" 134850 121821 ligandId:6752 HGNC:3694 "ENST00000336098.8|NM_021870.3" HGNC:3694 -HGNC:25610 FGGY FGGY carbohydrate kinase domain containing protein-coding gene gene with protein product Approved 1p32.1 01p32.1 FLJ10986 2008-02-28 2023-01-20 55277 ENSG00000172456 OTTHUMG00000008424 uc001czi.6 NM_001113411 "CCDS60155|CCDS611|CCDS58003|CCDS44155" Q96C11 17671248 MGI:1922828 RGD:1359429 611370 HGNC:25610 "ENST00000303721.12|NM_018291.5" +HGNC:25610 FGGY FGGY carbohydrate kinase domain containing protein-coding gene gene with protein product Approved 1p32.1 01p32.1 FLJ10986 2008-02-28 2023-01-20 55277 ENSG00000172456 OTTHUMG00000008424 uc001czi.6 NM_001113411 "CCDS611|CCDS44155|CCDS60155|CCDS58003" Q96C11 17671248 MGI:1922828 RGD:1359429 611370 HGNC:25610 "ENST00000303721.12|NM_018291.5" HGNC:55265 FGGY-DT FGGY divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.1 01p32.1 Divergent transcripts 1990 2020-09-29 2020-09-29 105378756 ENSG00000224609 XR_001738082 HGNC:3695 FGL1 fibrinogen like 1 protein-coding gene gene with protein product Approved 8p22 08p22 "HFREP-1|HPS" hepassocin Fibrinogen C domain containing 554 1995-05-25 2015-11-09 2023-01-20 2267 ENSG00000104760 OTTHUMG00000096989 uc003wye.4 D14446 NM_004467 CCDS6004 Q08830 8390249 MGI:102795 RGD:620169 605776 HGNC:3695 "ENST00000427924.5|NM_004467.4" HGNC:3696 FGL2 fibrinogen like 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "pT49|T49" fibroleukin fibrinogen-like 2 Fibrinogen C domain containing 554 1999-09-07 2016-02-03 2023-01-20 10875 ENSG00000127951 OTTHUMG00000130681 uc003ugb.4 Z36531 NM_006682 CCDS5591 Q14314 7642106 MGI:103266 RGD:620170 605351 HGNC:3696 "ENST00000248598.6|NM_006682.3" @@ -9208,22 +9209,22 @@ HGNC:29363 FHDC1 FH2 domain containing 1 protein-coding gene gene with protein p HGNC:34237 FHIP1A FHF complex subunit HOOK interacting protein 1A protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "FLJ43373|FHIP-L" FAM160A1 family with sequence similarity 160 member A1 FHF complex 2012 2008-06-05 2021-01-21 2021-01-21 2023-01-20 729830 ENSG00000164142 OTTHUMG00000161675 uc003imj.2 NM_001109977 CCDS47146 Q05DH4 "29930801|32073997" MGI:2444746 RGD:1565007 HGNC:34237 "ENST00000435205.6|NM_001109977.3" HGNC:53123 FHIP1A-DT FHIP1A divergent transcript non-coding RNA RNA, long non-coding Approved 4q31.3 04q31.3 RP11-610P16.1 FAM160A1-DT FAM160A1 divergent transcript Divergent transcripts 1990 2017-08-03 2021-01-21 2021-01-21 2021-01-21 105377486 ENSG00000251611 OTTHUMG00000161670 NR_183955 28187432 HGNC:53123 HGNC:25378 FHIP1B FHF complex subunit HOOK interacting protein 1B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FLJ22665|KIAA1759|DKFZP566M1046|FHIP" FTS and Hook interacting protein "C11orf56|FAM160A2" "chromosome 11 open reading frame 56|family with sequence similarity 160 member A2" FHF complex 2012 2006-02-17 2021-01-21 2021-01-21 2023-01-20 84067 ENSG00000051009 OTTHUMG00000133379 uc001mck.5 NM_032127 "CCDS7760|CCDS44530" Q8N612 "11230166|11214970|18799622" MGI:1921599 RGD:1359585 620229 HGNC:25378 "ENST00000449352.7|NM_001098794.2" -HGNC:29320 FHIP2A FHF complex subunit HOOK interacting protein 2A protein-coding gene gene with protein product Approved 10q25.3 10q25.3 bA106M7.3 "KIAA1600|FAM160B1" "KIAA1600|family with sequence similarity 160 member B1" "Armadillo like helical domain containing|FHF complex" "1492|2012" 2004-02-18 2021-01-21 2021-01-21 2023-01-20 57700 ENSG00000151553 OTTHUMG00000019092 uc001lcb.4 AB046820 NM_020940 "CCDS31290|CCDS44480" Q5W0V3 "10997877|31353455" MGI:2147545 RGD:1306116 617312 HGNC:29320 "ENST00000369248.9|NM_020940.4" +HGNC:29320 FHIP2A FHF complex subunit HOOK interacting protein 2A protein-coding gene gene with protein product Approved 10q25.3 10q25.3 bA106M7.3 "KIAA1600|FAM160B1" "KIAA1600|family with sequence similarity 160 member B1" "Armadillo like helical domain containing|FHF complex" "1492|2012" 2004-02-18 2021-01-21 2021-01-21 2023-01-20 57700 ENSG00000151553 OTTHUMG00000019092 uc001lcb.4 AB046820 NM_020940 "CCDS44480|CCDS31290" Q5W0V3 "10997877|31353455" MGI:2147545 RGD:1306116 617312 HGNC:29320 "ENST00000369248.9|NM_020940.4" HGNC:16492 FHIP2B FHF complex subunit HOOK interacting protein 2B protein-coding gene gene with protein product Approved 8p21.3 08p21.3 FLJ21801 "RAI16|FAM160B2" "retinoic acid induced 16|family with sequence similarity 160 member B2" "Armadillo like helical domain containing|FHF complex" "1492|2012" 2001-12-07 2021-01-21 2021-01-21 2023-01-20 64760 ENSG00000158863 OTTHUMG00000097088 uc011kyx.3 AK025454 NM_001354250 CCDS6021 Q86V87 "22971576|15626329" MGI:3036290 RGD:1308870 620230 HGNC:16492 "ENST00000289921.8|NM_022749.7" HGNC:3701 FHIT fragile histidine triad diadenosine triphosphatase protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "FRA3B|AP3Aase" bis(5'-adenosyl)-triphosphatase "fragile histidine triad gene|fragile histidine triad" "MicroRNA protein coding host genes|Histidine triad superfamily" "1691|1811" 1996-10-18 2019-04-25 2023-01-20 2272 ENSG00000189283 OTTHUMG00000158591 uc003dkx.5 BC032336 NM_002012 CCDS2894 P49789 "8598045|9671749|26181368" MGI:1277947 RGD:620448 FHIT 601153 121826 "3.6.1.29|3.6.2.1|3.9.1.-" HGNC:3701 "ENST00000492590.6|NM_002012.4" -HGNC:3702 FHL1 four and a half LIM domains 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "SLIM1|KYO-T|bA535K18.1|FHL1B|XMPMA|FLH1A|MGC111107" "Four-and-a-half LIM domains 1|LIM protein SLIMMER" LIM domain containing 1218 1997-08-28 2023-01-20 2273 ENSG00000022267 OTTHUMG00000022504 uc004ezp.3 U60115 NM_001449 "CCDS76036|CCDS14655|CCDS83493|CCDS55506|CCDS55507|CCDS55505" Q13642 "8753811|9714789" MGI:1298387 RGD:2615 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=FHL1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FHL1|LRG_739|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_739.xml" 300163 140044 HGNC:3702 "ENST00000370683.6|NM_001159699.2" HGNC:3702 +HGNC:3702 FHL1 four and a half LIM domains 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "SLIM1|KYO-T|bA535K18.1|FHL1B|XMPMA|FLH1A|MGC111107" "Four-and-a-half LIM domains 1|LIM protein SLIMMER" LIM domain containing 1218 1997-08-28 2023-01-20 2273 ENSG00000022267 OTTHUMG00000022504 uc004ezp.3 U60115 NM_001449 "CCDS55506|CCDS14655|CCDS55507|CCDS76036|CCDS55505|CCDS83493" Q13642 "8753811|9714789" MGI:1298387 RGD:2615 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=FHL1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FHL1|LRG_739|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_739.xml" 300163 140044 HGNC:3702 "ENST00000370683.6|NM_001159699.2" HGNC:3702 HGNC:56632 FHL1P1 FHL1 pseudogene 1 pseudogene pseudogene Approved 3q26.2 03q26.2 2022-11-09 2022-11-09 100128164 ENSG00000239219 NR_027622 HGNC:3703 FHL2 four and a half LIM domains 2 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 "SLIM3|DRAL" LIM domain containing 1218 1997-08-28 2023-03-15 2274 ENSG00000115641 OTTHUMG00000153120 uc002tdd.4 NM_001039492 CCDS2070 Q14192 8753811 MGI:1338762 RGD:61963 LRG_740|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_740.xml 602633 159586 HGNC:3703 "ENST00000530340.6|NM_001318895.3" HGNC:3703 HGNC:3704 FHL3 four and a half LIM domains 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 SLIM2 LIM domain containing 1218 1997-08-28 2023-01-20 2275 ENSG00000183386 OTTHUMG00000004434 uc001cck.4 BC011697 NM_004468 CCDS30678 Q13643 "8753811|10226657" MGI:1341092 RGD:1307180 602790 HGNC:3704 "ENST00000373016.4|NM_004468.5" HGNC:17371 FHL5 four and a half LIM domains 5 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "FLJ33049|ACT|dJ393D12.2" LIM domain containing 1218 2003-11-26 2023-01-20 9457 ENSG00000112214 OTTHUMG00000015239 uc003pot.2 AF278541 NM_020482 CCDS5035 Q5TD97 MGI:1913192 RGD:1307056 605126 HGNC:17371 "ENST00000450218.6|NM_001322466.2" HGNC:17905 FHOD1 formin homology 2 domain containing 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FHOS "Armadillo like helical domain containing|Formins" "1492|2006" 2002-02-19 2023-01-20 29109 ENSG00000135723 OTTHUMG00000137521 uc002esl.4 AF113615 NM_001318202 CCDS10834 Q9Y613 "10352228|16112087" MGI:2679008 RGD:1589776 606881 HGNC:17905 "ENST00000258201.9|NM_013241.3" -HGNC:26178 FHOD3 formin homology 2 domain containing 3 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "FHOS2|KIAA1695|FLJ22297|FLJ22717" "Armadillo like helical domain containing|Formins" "1492|2006" 2004-02-04 2023-01-20 80206 ENSG00000134775 OTTHUMG00000182381 uc002kzs.3 AK091899 NM_025135 "CCDS32816|CCDS62419|CCDS62418" Q2V2M9 11214970 MGI:1925847 RGD:2322319 609691 HGNC:26178 "ENST00000590592.6|NM_001281740.3" HGNC:26178 +HGNC:26178 FHOD3 formin homology 2 domain containing 3 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "FHOS2|KIAA1695|FLJ22297|FLJ22717" "Armadillo like helical domain containing|Formins" "1492|2006" 2004-02-04 2023-01-20 80206 ENSG00000134775 OTTHUMG00000182381 uc002kzs.3 AK091899 NM_025135 "CCDS62419|CCDS62418|CCDS32816" Q2V2M9 11214970 MGI:1925847 RGD:2322319 609691 HGNC:26178 "ENST00000590592.6|NM_001281740.3" HGNC:26178 HGNC:39442 FHP1 fumarate hydratase pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-01-11 2011-01-11 100873790 ENSG00000234213 OTTHUMG00000016802 NG_029191 PGOHUM00000248575 HGNC:39442 HGNC:56714 FHP2 fumarate hydratase pseudogene 2 pseudogene pseudogene Approved 5p13.2 05p13.2 2023-01-23 2023-01-23 128385370 ENSG00000250767 HGNC:25922 FIBCD1 fibrinogen C domain containing 1 protein-coding gene gene with protein product Approved 9q34.12 09q34.12 FLJ14810 Fibrinogen C domain containing 554 2004-01-06 2023-01-20 84929 ENSG00000130720 OTTHUMG00000020814 uc011mcc.2 AK027716 NM_032843 CCDS6937 Q8N539 "12975309|35916241" MGI:2138953 RGD:1309097 613357 HGNC:25922 "ENST00000372338.9|NM_032843.5" HGNC:55657 FIBCD1-AS1 FIBCD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.12 09q34.12 Antisense RNAs 1987 2021-06-30 2021-06-30 105376297 ENSG00000236658 XR_930398 HGNC:33747 FIBIN fin bud initiation factor homolog protein-coding gene gene with protein product Approved 11p14.2 11p14.2 MGC24932 fin bud initiation factor homolog (zebrafish) 2008-12-03 2018-07-09 2023-01-20 387758 ENSG00000176971 OTTHUMG00000166120 uc001mrd.4 BC026873 NM_203371 CCDS7861 Q8TAL6 17196583 MGI:1914856 RGD:1563711 617085 HGNC:33747 "ENST00000318627.4|NM_203371.2" -HGNC:3705 FIBP FGF1 intracellular binding protein protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FGFIBP fibroblast growth factor (acidic) intracellular binding protein 1999-06-07 2016-04-29 2023-01-20 9158 ENSG00000172500 OTTHUMG00000166846 uc001oge.4 AF010187 NM_198897 "CCDS8119|CCDS8118" O43427 "9806903|25096995" MGI:1926233 RGD:628715 608296 HGNC:3705 "ENST00000357519.9|NM_004214.5" HGNC:3705 +HGNC:3705 FIBP FGF1 intracellular binding protein protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FGFIBP fibroblast growth factor (acidic) intracellular binding protein 1999-06-07 2016-04-29 2023-01-20 9158 ENSG00000172500 OTTHUMG00000166846 uc001oge.4 AF010187 NM_198897 "CCDS8118|CCDS8119" O43427 "9806903|25096995" MGI:1926233 RGD:628715 608296 HGNC:3705 "ENST00000357519.9|NM_004214.5" HGNC:3705 HGNC:18416 FICD FIC domain protein adenylyltransferase protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "HYPE|HIP13" "huntingtin interacting protein 13|fic S-phase protein cell division homolog (E. coli)" FIC domain containing 2007-12-04 2020-01-09 2023-01-20 11153 ENSG00000198855 OTTHUMG00000169569 uc001tmx.2 AF049611 NM_007076 CCDS9116 Q9BVA6 9700202 MGI:1098550 RGD:1359391 HGNC:18416 "ENST00000552695.6|NM_007076.3" HGNC:16873 FIG4 FIG4 phosphoinositide 5-phosphatase protein-coding gene gene with protein product Approved 6q21 06q21 "SAC3|hSac3|dJ249I4.1|ALS11|CMT4J" KIAA0274 "KIAA0274|FIG4 homolog (S. cerevisiae)|FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)" Phosphoinositide phosphatases 1079 2003-11-26 2007-07-30 2014-08-04 2023-01-20 9896 ENSG00000112367 OTTHUMG00000015352 uc003ptt.3 D87464 NM_014845 CCDS5078 Q92562 "9039502|11274189|17572665" MGI:2143585 RGD:1311375 LRG_241|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_241.xml 609390 159207 HGNC:16873 "ENST00000230124.8|NM_014845.6" HGNC:16873 HGNC:24669 FIGLA folliculogenesis specific bHLH transcription factor protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "bHLHc8|Figalpha" factor in the germline alpha folliculogenesis specific basic helix-loop-helix Basic helix-loop-helix proteins 420 2006-05-18 2015-06-16 2023-01-20 344018 ENSG00000183733 OTTHUMG00000153440 uc002she.1 BC039536 NM_001004311 CCDS46320 Q6QHK4 12468641 MGI:1349421 RGD:1564754 608697 292019 HGNC:24669 "ENST00000332372.6|NM_001004311.3" HGNC:24669 @@ -9231,27 +9232,27 @@ HGNC:13285 FIGN fidgetin, microtubule severing factor protein-coding gene gene w HGNC:13286 FIGNL1 fidgetin like 1 protein-coding gene gene with protein product Approved 7p12.2 07p12.2 fidgetin-like 1 AAA ATPases 413 2000-11-28 2016-02-03 2023-01-20 63979 ENSG00000132436 OTTHUMG00000022866 uc064dpv.1 AK023142 NM_001042762 CCDS5510 Q6PIW4 MGI:1890648 RGD:1307112 615383 HGNC:13286 "ENST00000433017.6|NM_001287492.4" HGNC:13287 FIGNL2 fidgetin like 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 fidgetin-like 2 AAA ATPases 413 2007-12-06 2016-02-03 2023-01-20 401720 ENSG00000261308 OTTHUMG00000175693 AK129980 NM_001013690 CCDS86302 A6NMB9 11017077 MGI:3646919 RGD:1566321 HGNC:13287 "ENST00000618634.3|NM_001384995.1" HGNC:53299 FIGNL2-DT FIGNL2 divergent transcript non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Divergent transcripts 1990 2019-06-17 2019-06-17 105369971 ENSG00000259887 OTTHUMG00000172914 NR_135803 HGNC:53299 -HGNC:21015 FILIP1 filamin A interacting protein 1 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "FILIP|KIAA1275" 2003-05-02 2023-01-20 27145 ENSG00000118407 OTTHUMG00000015056 uc003pia.4 AB033101 NM_001289987 "CCDS4984|CCDS75480" Q7Z7B0 10574462 MGI:1917848 RGD:628597 607307 HGNC:21015 "ENST00000237172.12|NM_015687.5" -HGNC:24589 FILIP1L filamin A interacting protein 1 like protein-coding gene gene with protein product Approved 3q12.1 03q12.1 "DOC-1|GIP130" "downregulated in ovarian cancer 1|GPBP-interacting protein of 130 kDa" 2006-12-07 2016-06-02 2023-01-20 11259 ENSG00000168386 OTTHUMG00000159055 uc003dto.5 NM_014890 "CCDS43117|CCDS74969|CCDS43119|CCDS93331|CCDS43118|CCDS63700" Q4L180 "8314147|15935955|21832087" MGI:1925999 RGD:1565927 612993 HGNC:24589 "ENST00000477258.2|NM_001387850.1" +HGNC:21015 FILIP1 filamin A interacting protein 1 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "FILIP|KIAA1275" 2003-05-02 2023-01-20 27145 ENSG00000118407 OTTHUMG00000015056 uc003pia.4 AB033101 NM_001289987 "CCDS75480|CCDS4984" Q7Z7B0 10574462 MGI:1917848 RGD:628597 607307 HGNC:21015 "ENST00000237172.12|NM_015687.5" +HGNC:24589 FILIP1L filamin A interacting protein 1 like protein-coding gene gene with protein product Approved 3q12.1 03q12.1 "DOC-1|GIP130" "downregulated in ovarian cancer 1|GPBP-interacting protein of 130 kDa" 2006-12-07 2016-06-02 2023-01-20 11259 ENSG00000168386 OTTHUMG00000159055 uc003dto.5 NM_014890 "CCDS63700|CCDS43118|CCDS43119|CCDS93331|CCDS74969|CCDS43117" Q4L180 "8314147|15935955|21832087" MGI:1925999 RGD:1565927 612993 HGNC:24589 "ENST00000477258.2|NM_001387850.1" HGNC:53755 FILNC1 FOXO induced long non-coding RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.1 06q24.1 FoxO-induced long non-coding RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2017-10-06 2017-10-06 100132735 ENSG00000231426 OTTHUMG00000015697 NR_038399 28978906 HGNC:53755 -HGNC:19124 FIP1L1 factor interacting with PAPOLA and CPSF1 protein-coding gene gene with protein product Approved 4q12 04q12 "DKFZp586K0717|FIP1|hFip1" "FIP1 like 1 (S. cerevisiae)|FIP1L1 cleavage and polyadenylation specific factor subunit" Cleavage and polyadenylation specific factor subunits 1450 2003-03-03 2013-06-18 2023-01-20 81608 ENSG00000145216 OTTHUMG00000128701 uc003gzy.4 AF161429 NM_030917 "CCDS93502|CCDS93504|CCDS47055|CCDS93507|CCDS47056|CCDS93522|CCDS93497|CCDS93495|CCDS93500|CCDS93506|CCDS93526|CCDS93520|CCDS93508|CCDS93517|CCDS93510|CCDS3491|CCDS93503|CCDS93511|CCDS93524|CCDS93499|CCDS93512|CCDS93516|CCDS93498|CCDS93519|CCDS93525|CCDS93513|CCDS93514|CCDS93521|CCDS93518|CCDS93523|CCDS93509|CCDS93496|CCDS93515|CCDS93501" Q6UN15 "11230166|14749727" MGI:1914149 RGD:1309336 FIP1L1 607686 121830 HGNC:19124 "ENST00000337488.11|NM_030917.4" +HGNC:19124 FIP1L1 factor interacting with PAPOLA and CPSF1 protein-coding gene gene with protein product Approved 4q12 04q12 "DKFZp586K0717|FIP1|hFip1" "FIP1 like 1 (S. cerevisiae)|FIP1L1 cleavage and polyadenylation specific factor subunit" Cleavage and polyadenylation specific factor subunits 1450 2003-03-03 2013-06-18 2023-01-20 81608 ENSG00000145216 OTTHUMG00000128701 uc003gzy.4 AF161429 NM_030917 "CCDS47055|CCDS93509|CCDS93521|CCDS93502|CCDS93525|CCDS93511|CCDS93524|CCDS93514|CCDS93516|CCDS93503|CCDS93498|CCDS93500|CCDS93506|CCDS93501|CCDS93499|CCDS93504|CCDS93518|CCDS93512|CCDS93510|CCDS93507|CCDS93495|CCDS93508|CCDS93526|CCDS93497|CCDS93496|CCDS93517|CCDS93523|CCDS93513|CCDS3491|CCDS93519|CCDS93520|CCDS47056|CCDS93522|CCDS93515" Q6UN15 "11230166|14749727" MGI:1914149 RGD:1309336 FIP1L1 607686 121830 HGNC:19124 "ENST00000337488.11|NM_030917.4" HGNC:49627 FIRRE firre intergenic repeating RNA element non-coding RNA RNA, long non-coding Approved Xq26.2 Xq26.2 LINC01200 functional intergenic repeating RNA element firre intergenic RNA Long non-coding RNAs with non-systematic symbols 1992 2014-01-24 2014-04-11 2018-08-17 286467 ENSG00000213468 OTTHUMG00000022417 AK097911 NR_026975 "24463464|27009974" MGI:2147989 300999 FIRRE HGNC:49627 -HGNC:25565 FIRRM FIGNL1 interacting regulator of recombination and mitosis protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "FLJ10706|Apolo1|FLIP|MEICA1" "associating protein with POLO1|Fidgetin-like-1 interacting protein" C1orf112 chromosome 1 open reading frame 112 2005-06-08 2023-02-20 2023-02-20 2023-06-05 55732 ENSG00000000460 OTTHUMG00000035821 uc001ggp.4 AL354614 NM_018186 "CCDS81401|CCDS86030|CCDS1285|CCDS81400" Q9NSG2 "23039964|33625522|37256941" MGI:3590554 RGD:1563470 HGNC:25565 "ENST00000359326.9|NM_001320047.2" +HGNC:25565 FIRRM FIGNL1 interacting regulator of recombination and mitosis protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "FLJ10706|Apolo1|FLIP|MEICA1" "associating protein with POLO1|Fidgetin-like-1 interacting protein" C1orf112 chromosome 1 open reading frame 112 2005-06-08 2023-02-20 2023-02-20 2023-06-05 55732 ENSG00000000460 OTTHUMG00000035821 uc001ggp.4 AL354614 NM_018186 "CCDS81401|CCDS86030|CCDS81400|CCDS1285" Q9NSG2 "23039964|33625522|37256941" MGI:3590554 RGD:1563470 HGNC:25565 "ENST00000359326.9|NM_001320047.2" HGNC:21689 FIS1 fission, mitochondrial 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CGI-135|H_NH0132A01.6" "CGI-135 protein|mitochondrial fission molecule" TTC11 "tetratricopeptide repeat domain 11|fission 1 (mitochondrial outer membrane) homolog (yeast)|fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)" Tetratricopeptide repeat domain containing 769 2003-07-09 2006-01-24 2015-06-24 2023-01-20 51024 ENSG00000214253 OTTHUMG00000157106 uc003uyj.5 AF151893 NM_016068 CCDS43626 Q9Y3D6 "14996942|16010987" MGI:1913687 RGD:1306668 609003 470338 HGNC:21689 "ENST00000223136.5|NM_016068.3" HGNC:33714 FITM1 fat storage inducing transmembrane protein 1 protein-coding gene gene with protein product Approved 14q12 14q12 FIT1 fat-inducing transcript 1 2009-04-29 2016-03-24 2023-01-20 161247 ENSG00000139914 OTTHUMG00000133476 uc001wmf.3 NM_203402 CCDS9611 A5D6W6 18160536 MGI:1915930 RGD:1306911 612028 HGNC:33714 "ENST00000267426.6|NM_203402.3" HGNC:16135 FITM2 fat storage inducing transmembrane protein 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ881L22.2|FIT2" fat inducing transcript 2 C20orf142 chromosome 20 open reading frame 142 2001-07-17 2009-04-29 2016-03-24 2023-01-20 128486 ENSG00000197296 OTTHUMG00000032522 uc002xlr.2 BC029662 NM_001080472 CCDS33473 Q8N6M3 18160536 MGI:2444508 RGD:1307696 612029 HGNC:16135 "ENST00000396825.4|NM_001080472.4" HGNC:16135 HGNC:25917 FIZ1 FLT3 interacting zinc finger 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ14768|ZNF798" Zinc fingers C2H2-type 28 2006-08-20 2016-02-15 2023-01-20 84922 ENSG00000179943 OTTHUMG00000180858 uc002qli.4 AK027674 NM_032836 CCDS12928 Q96SL8 12566383 MGI:1344336 RGD:1306359 609133 HGNC:25917 "ENST00000221665.5|NM_032836.3" HGNC:17166 FJX1 four-jointed box kinase 1 protein-coding gene gene with protein product Approved 11p13 11p13 "FLJ22416|FLJ25593" putative secreted ligand homologous to fjx1 "four jointed box 1 (Drosophila)|four jointed box 1" Golgi associated kinase family 1637 2001-11-21 2018-09-27 2023-01-20 24147 ENSG00000179431 OTTHUMG00000166310 uc001mwh.4 AJ245599 NM_014344 CCDS44570 Q86VR8 "7647465|10072791" MGI:1341907 RGD:1306113 612206 HGNC:17166 "ENST00000317811.6|NM_014344.4" -HGNC:3711 FKBP1A FKBP prolyl isomerase 1A protein-coding gene gene with protein product Approved 20p13 20p13 "FKBP-12|FKBP12|PKC12|PPIASE|FKBP12C" calstabin 1 FKBP1 "FK506-binding protein 1A (12kD)|FK506 binding protein 1A, 12kDa|FK506 binding protein 1A" "FKBP prolyl isomerases|MicroRNA protein coding host genes" "910|1691" 1992-09-14 2018-11-01 2023-01-20 2280 ENSG00000088832 OTTHUMG00000031666 uc002wey.4 M92423 NM_000801 "CCDS74688|CCDS13014" P62942 1930186 MGI:95541 RGD:2617 186945 470340 objectId:2609 5.2.1.8 HGNC:3711 "ENST00000400137.9|NM_000801.5" +HGNC:3711 FKBP1A FKBP prolyl isomerase 1A protein-coding gene gene with protein product Approved 20p13 20p13 "FKBP-12|FKBP12|PKC12|PPIASE|FKBP12C" calstabin 1 FKBP1 "FK506-binding protein 1A (12kD)|FK506 binding protein 1A, 12kDa|FK506 binding protein 1A" "FKBP prolyl isomerases|MicroRNA protein coding host genes" "910|1691" 1992-09-14 2018-11-01 2023-01-20 2280 ENSG00000088832 OTTHUMG00000031666 uc002wey.4 M92423 NM_000801 "CCDS13014|CCDS74688" P62942 1930186 MGI:95541 RGD:2617 186945 470340 objectId:2609 5.2.1.8 HGNC:3711 "ENST00000400137.9|NM_000801.5" HGNC:41997 FKBP1A-SDCBP2 FKBP1A-SDCBP2 readthrough (NMD candidate) other readthrough Approved 20p13 20p13 2011-05-31 2013-05-09 2014-11-19 100528031 NR_037661 HGNC:41997 HGNC:3714 FKBP1AP1 FKBP prolyl isomerase 1A pseudogene 1 pseudogene pseudogene Approved 19q13.43 19q13.43 FKBP1P1 "FK506-binding protein 1 pseudogene 1|FK506 binding protein 1 pseudogene 1|FK506 binding protein 1A, 12kDa pseudogene 1|FK506 binding protein 1A pseudogene 1" 1992-09-14 2010-01-07 2018-11-01 2018-11-01 2282 ENSG00000269304 OTTHUMG00000183480 "M80196|M80201" NR_024162 1716149 PGOHUM00000295150 HGNC:3714 HGNC:3715 FKBP1AP2 FKBP prolyl isomerase 1A pseudogene 2 pseudogene pseudogene Approved 15q24.1 15q24.1 FKBP1P2 "FK506-binding protein 1 pseudogene 2|FK506 binding protein 1 pseudogene 2|FK506 binding protein 1A, 12kDa pseudogene 2|FK506 binding protein 1A pseudogene 2" 1992-09-14 2010-01-07 2018-11-01 2018-11-01 2283 ENSG00000259691 OTTHUMG00000172551 "M80197|M80202" NG_008623 1716149 PGOHUM00000293009 HGNC:3715 HGNC:3716 FKBP1AP3 FKBP prolyl isomerase 1A pseudogene 3 pseudogene pseudogene Approved 13q14.13 13q14.13 FKBP1P3 "FK506-binding protein 1 pseudogene 3|FK506 binding protein 1 pseudogene 3|FK506 binding protein 1A, 12kDa pseudogene 3|FK506 binding protein 1A pseudogene 3" 1992-09-15 2010-01-07 2018-11-01 2018-11-01 2284 ENSG00000230243 OTTHUMG00000016873 M80200 NG_006209 1716149 PGOHUM00000292148 HGNC:3716 HGNC:3717 FKBP1AP4 FKBP prolyl isomerase 1A pseudogene 4 pseudogene pseudogene Approved 3q25.1 03q25.1 FKBP1P4 "FK506-binding protein 1 pseudogene 4|FK506 binding protein 1 pseudogene 4|FK506 binding protein 1A, 12kDa pseudogene 4|FK506 binding protein 1A pseudogene 4" 1992-09-15 2010-01-07 2018-11-01 2018-11-01 2285 ENSG00000282502 OTTHUMG00000190905 "M80198|M80203" NG_006255 1716149 PGOHUM00000299224 HGNC:3717 -HGNC:3712 FKBP1B FKBP prolyl isomerase 1B protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "OTK4|FKBP12.6|PPIase|FKBP9" calstabin 2 FKBP1L "FK506-binding protein 1B (12.6 kD)|FK506 binding protein 1B, 12.6 kDa|FK506 binding protein 1B" FKBP prolyl isomerases 910 1999-02-15 2018-11-01 2023-01-20 2281 ENSG00000119782 OTTHUMG00000151889 uc002rer.4 D38037 NM_004116 "CCDS33153|CCDS1706|CCDS82423" P68106 7513996 MGI:1336205 RGD:61835 600620 HGNC:3712 "ENST00000380986.9|NM_004116.5" +HGNC:3712 FKBP1B FKBP prolyl isomerase 1B protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "OTK4|FKBP12.6|PPIase|FKBP9" calstabin 2 FKBP1L "FK506-binding protein 1B (12.6 kD)|FK506 binding protein 1B, 12.6 kDa|FK506 binding protein 1B" FKBP prolyl isomerases 910 1999-02-15 2018-11-01 2023-01-20 2281 ENSG00000119782 OTTHUMG00000151889 uc002rer.4 D38037 NM_004116 "CCDS82423|CCDS33153|CCDS1706" P68106 7513996 MGI:1336205 RGD:61835 600620 HGNC:3712 "ENST00000380986.9|NM_004116.5" HGNC:52378 FKBP1BP1 FKBP prolyl isomerase 1B pseudogene 1 pseudogene pseudogene Approved 14q21.1 14q21.1 FK506 binding protein 1B pseudogene 1 2016-08-19 2018-11-01 2018-11-01 107984636 ENSG00000258536 OTTHUMG00000170681 NG_051660 PGOHUM00000292639 HGNC:52378 HGNC:21376 FKBP1C FKBP prolyl isomerase family member 1C protein-coding gene gene with protein product Approved 6q12 06q12 bA184C23.2 "FK506 binding protein 1C|FKBP prolyl isomerase 1C" FKBP prolyl isomerases 910 2003-11-26 2020-09-23 2023-01-20 642489 ENSG00000198225 OTTHUMG00000014940 uc063phw.1 NM_001395980 CCDS93938 Q5VVH2 MGI:95541 HGNC:21376 -HGNC:3718 FKBP2 FKBP prolyl isomerase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FKBP-13|FKBP13|PPIase" "FK506 binding protein 2 (13kD)|peptidyl-prolyl cis-trans isomerase|rapamycin-binding protein|proline isomerase" "FK506-binding protein 2 (13kD)|FK506 binding protein 2, 13kDa|FK506 binding protein 2" FKBP prolyl isomerases 910 1992-09-14 2018-11-01 2023-01-20 2286 ENSG00000173486 OTTHUMG00000167814 uc001nyy.4 M75099 NM_004470 "CCDS91499|CCDS8063" P26885 1713687 MGI:95542 186946 HGNC:3718 "ENST00000309366.9|NM_004470.4" +HGNC:3718 FKBP2 FKBP prolyl isomerase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FKBP-13|FKBP13|PPIase" "FK506 binding protein 2 (13kD)|peptidyl-prolyl cis-trans isomerase|rapamycin-binding protein|proline isomerase" "FK506-binding protein 2 (13kD)|FK506 binding protein 2, 13kDa|FK506 binding protein 2" FKBP prolyl isomerases 910 1992-09-14 2018-11-01 2023-01-20 2286 ENSG00000173486 OTTHUMG00000167814 uc001nyy.4 M75099 NM_004470 "CCDS8063|CCDS91499" P26885 1713687 MGI:95542 186946 HGNC:3718 "ENST00000309366.9|NM_004470.4" HGNC:3719 FKBP3 FKBP prolyl isomerase 3 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 "FKBP-25|FKBP25" "FK506-binding protein 3 (25kD)|FK506 binding protein 3, 25kDa|FK506 binding protein 3" FKBP prolyl isomerases 910 1992-09-14 2018-11-01 2023-01-20 2287 ENSG00000100442 OTTHUMG00000140267 uc059bdf.1 M96256 NM_002013 CCDS9683 Q00688 "1374240|1532945" MGI:1353460 RGD:1304992 186947 HGNC:3719 "ENST00000396062.4|NM_002013.4" HGNC:3720 FKBP4 FKBP prolyl isomerase 4 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "FKBP59|FKBP52" "FK506-binding protein 4 (59kD)|FK506 binding protein 4, 59kDa|FK506 binding protein 4" "Tetratricopeptide repeat domain containing|FKBP prolyl isomerases" "769|910" 1992-09-14 2018-11-01 2023-01-20 2288 ENSG00000004478 OTTHUMG00000090429 uc001qkz.4 M88279 NM_002014 CCDS8512 Q02790 1279700 MGI:95543 RGD:628729 600611 objectId:3176 HGNC:3720 "ENST00000001008.6|NM_002014.4" HGNC:44038 FKBP4P1 FKBP prolyl isomerase 4 pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 "FK506 binding protein 4, 59kDa pseudogene 1|FK506 binding protein 4 pseudogene 1" 2012-05-29 2018-11-01 2018-11-01 100132656 ENSG00000251463 OTTHUMG00000161414 NG_008629 PGOHUM00000299969 HGNC:44038 @@ -9260,12 +9261,12 @@ HGNC:50375 FKBP4P6 FKBP prolyl isomerase 4 pseudogene 6 pseudogene pseudogene Ap HGNC:50376 FKBP4P7 FKBP prolyl isomerase 4 pseudogene 7 pseudogene pseudogene Approved 9q13 09q13 FKBP4P3 "FK506 binding protein 4, 59kDa pseudogene 3|FK506 binding protein 4, 59kDa pseudogene 7|FK506 binding protein 4 pseudogene 7" 2014-04-24 2018-11-01 2018-11-01 441410 ENSG00000235256 OTTHUMG00000013190 NG_008628 PGOHUM00000303862 HGNC:50376 HGNC:50377 FKBP4P8 FKBP prolyl isomerase 4 pseudogene 8 pseudogene pseudogene Approved 9q21.11 09q21.11 "FK506 binding protein 4, 59kDa pseudogene 8|FK506 binding protein 4 pseudogene 8" 2014-04-24 2018-11-01 2018-11-01 643880 ENSG00000276457 OTTHUMG00000188569 NG_021618 PGOHUM00000303917 HGNC:50377 HGNC:3721 FKBP5 FKBP prolyl isomerase 5 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "FKBP51|FKBP54|PPIase|P54|Ptg-10" "FK506-binding protein 5|FK506 binding protein 5" "Tetratricopeptide repeat domain containing|FKBP prolyl isomerases|MicroRNA protein coding host genes" "769|910|1691" 1997-06-09 2018-11-01 2023-01-20 2289 ENSG00000096060 OTTHUMG00000014576 uc003oky.3 U42031 NM_001145775 "CCDS4808|CCDS54996" Q13451 9001212 MGI:104670 RGD:1309155 602623 objectId:3175 HGNC:3721 "ENST00000357266.9|NM_004117.4" -HGNC:3722 FKBP6 FKBP prolyl isomerase family member 6 (inactive) protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "PPIase|FKBP36" "FK506 binding protein 6 (36kD)|peptidylprolyl cis-trans isomerase|rotamase|immunophilin FKBP36" "FK506-binding protein 6 (36kD)|FK506 binding protein 6, 36kDa" FKBP prolyl isomerases 910 1998-12-09 2020-09-23 2023-01-20 8468 ENSG00000077800 OTTHUMG00000150520 uc003tya.4 AF038847 NM_003602 "CCDS47604|CCDS43595|CCDS64670" O75344 "9782077|18529014|19001379" MGI:2137612 RGD:1308926 604839 HGNC:3722 "ENST00000252037.5|NM_003602.5" +HGNC:3722 FKBP6 FKBP prolyl isomerase family member 6 (inactive) protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "PPIase|FKBP36" "FK506 binding protein 6 (36kD)|peptidylprolyl cis-trans isomerase|rotamase|immunophilin FKBP36" "FK506-binding protein 6 (36kD)|FK506 binding protein 6, 36kDa" FKBP prolyl isomerases 910 1998-12-09 2020-09-23 2023-01-20 8468 ENSG00000077800 OTTHUMG00000150520 uc003tya.4 AF038847 NM_003602 "CCDS47604|CCDS64670|CCDS43595" O75344 "9782077|18529014|19001379" MGI:2137612 RGD:1308926 604839 HGNC:3722 "ENST00000252037.5|NM_003602.5" HGNC:56779 FKBP6P1 FKBP6 pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 2023-04-18 2023-04-18 100101148 ENSG00000205584 NR_104007 PGOHUM00000302797 HGNC:56780 FKBP6P2 FKBP6 pseudogene 2 pseudogene pseudogene Approved 7q11.23 07q11.23 2023-04-18 2023-04-18 541473 ENSG00000146722 NR_003602 -HGNC:3723 FKBP7 FKBP prolyl isomerase 7 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 FKBP23 "FK506-binding protein 7|FK506 binding protein 7" "EF-hand domain containing|FKBP prolyl isomerases" "863|910" 1998-12-09 2018-11-01 2023-01-20 51661 ENSG00000079150 OTTHUMG00000132577 uc002umk.4 AF092137 NM_181342 "CCDS2280|CCDS46462|CCDS92911" Q9Y680 9806833 MGI:1336879 RGD:1305293 607062 HGNC:3723 "ENST00000424785.7|NM_181342.3" -HGNC:3724 FKBP8 FKBP prolyl isomerase 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FKBP38|FKBPr38" FK506-binding protein 8 (38kD) "FK506-binding protein 8 (38kD)|FK506 binding protein 8, 38kDa|FK506 binding protein 8" "Tetratricopeptide repeat domain containing|FKBP prolyl isomerases" "769|910" 1999-10-28 2018-11-01 2023-01-20 23770 ENSG00000105701 OTTHUMG00000183368 uc002njj.2 L37033 NM_012181 "CCDS77266|CCDS32961" Q14318 7543869 MGI:1341070 RGD:1308670 604840 objectId:3177 HGNC:3724 "ENST00000608443.6|NM_012181.5" -HGNC:3725 FKBP9 FKBP prolyl isomerase 9 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "FKBP60|FKBP63" "FK506-binding protein 9 (63 kD)|FK506 binding protein 9, 63 kDa|FK506 binding protein 9" "EF-hand domain containing|FKBP prolyl isomerases" "863|910" 1999-10-28 2018-11-01 2023-01-20 11328 ENSG00000122642 OTTHUMG00000097847 uc003tdh.5 AF089745 NM_007270 "CCDS64622|CCDS64623|CCDS5439" O95302 12036304 MGI:1350921 RGD:1549757 616257 HGNC:3725 "ENST00000242209.9|NM_007270.5" +HGNC:3723 FKBP7 FKBP prolyl isomerase 7 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 FKBP23 "FK506-binding protein 7|FK506 binding protein 7" "EF-hand domain containing|FKBP prolyl isomerases" "863|910" 1998-12-09 2018-11-01 2023-01-20 51661 ENSG00000079150 OTTHUMG00000132577 uc002umk.4 AF092137 NM_181342 "CCDS46462|CCDS2280|CCDS92911" Q9Y680 9806833 MGI:1336879 RGD:1305293 607062 HGNC:3723 "ENST00000424785.7|NM_181342.3" +HGNC:3724 FKBP8 FKBP prolyl isomerase 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FKBP38|FKBPr38" FK506-binding protein 8 (38kD) "FK506-binding protein 8 (38kD)|FK506 binding protein 8, 38kDa|FK506 binding protein 8" "Tetratricopeptide repeat domain containing|FKBP prolyl isomerases" "769|910" 1999-10-28 2018-11-01 2023-01-20 23770 ENSG00000105701 OTTHUMG00000183368 uc002njj.2 L37033 NM_012181 "CCDS32961|CCDS77266" Q14318 7543869 MGI:1341070 RGD:1308670 604840 objectId:3177 HGNC:3724 "ENST00000608443.6|NM_012181.5" +HGNC:3725 FKBP9 FKBP prolyl isomerase 9 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "FKBP60|FKBP63" "FK506-binding protein 9 (63 kD)|FK506 binding protein 9, 63 kDa|FK506 binding protein 9" "EF-hand domain containing|FKBP prolyl isomerases" "863|910" 1999-10-28 2018-11-01 2023-01-20 11328 ENSG00000122642 OTTHUMG00000097847 uc003tdh.5 AF089745 NM_007270 "CCDS64622|CCDS5439|CCDS64623" O95302 12036304 MGI:1350921 RGD:1549757 616257 HGNC:3725 "ENST00000242209.9|NM_007270.5" HGNC:23568 FKBP9P1 FKBP prolyl isomerase 9 pseudogene 1 pseudogene pseudogene Approved 7p11.2 07p11.2 MGC20531 FKBP9L "FK506 binding protein 9-like|FK506 binding protein 9 pseudogene 1" 2003-11-24 2014-04-01 2018-11-01 2023-03-15 360132 ENSG00000176826 OTTHUMG00000097835 BC011872 NR_003949 Q75LS8 12036304 PGOHUM00000232699 HGNC:23568 HGNC:18169 FKBP10 FKBP prolyl isomerase 10 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "hFKBP65|FKBP65|FLJ22041|FKBP6|FLJ20683|FLJ23833" "FK506 binding protein 10 (65 kDa)|FK506 binding protein 10, 65 kDa|FK506 binding protein 10" "EF-hand domain containing|FKBP prolyl isomerases" "863|910" 2002-03-12 2018-11-01 2023-01-20 60681 ENSG00000141756 OTTHUMG00000133497 uc002hxv.3 AB045981 NM_021939 CCDS11409 Q96AY3 "11071917|18786928" MGI:104769 RGD:1549751 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=FKBP10|LRG_12|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_12.xml" 607063 233035 HGNC:18169 "ENST00000321562.9|NM_021939.4" HGNC:18169 HGNC:18624 FKBP11 FKBP prolyl isomerase 11 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 FKBP19 "FK506 binding protein 11 (19 kDa)|FK506 binding protein 11, 19 kDa|FK506 binding protein 11" FKBP prolyl isomerases 910 2002-06-05 2018-11-01 2023-01-20 51303 ENSG00000134285 OTTHUMG00000170402 uc001rsp.4 AF238079 NM_016594 "CCDS44870|CCDS8773|CCDS44871" Q9NYL4 "12036304|16596453" MGI:1913370 RGD:1306161 610571 HGNC:18624 "ENST00000550765.6|NM_016594.3" @@ -9276,17 +9277,17 @@ HGNC:13949 FKBPL FKBP prolyl isomerase like protein-coding gene gene with protei HGNC:17997 FKRP fukutin related protein protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "LGMD2I|MDC1C|FKTR" 2003-12-04 2023-01-20 79147 ENSG00000181027 OTTHUMG00000183177 uc002pfn.3 AJ314847 NM_024301 CCDS12691 Q9H9S5 "11592034|11741828" MGI:2447586 RGD:1305852 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/FKRP|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=FKRP|LRG_761|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_761.xml" 606596 121835 HGNC:17997 "ENST00000318584.10|NM_024301.5" HGNC:17997 HGNC:3622 FKTN fukutin protein-coding gene gene with protein product Approved 9q31.2 09q31.2 LGMD2M FCMD Fukuyama type congenital muscular dystrophy (fukutin) 1993-12-01 2007-11-21 2007-11-21 2023-03-15 2218 ENSG00000106692 OTTHUMG00000020425 uc004bcs.3 NM_006731 CCDS6766 O75072 "8275093|17036286|17044012" MGI:2179507 RGD:1310087 "FCMD - Fukuyama type congenital muscular dystrophy |http://www.LOVD.nl/FCMD |Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=FKTN|LRG_434|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_434.xml" 607440 121775 HGNC:3622 "ENST00000357998.10|NM_001079802.2" HGNC:3622 HGNC:55797 FKTN-AS1 FKTN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q31.2 09q31.2 Antisense RNAs 1987 2021-07-29 2021-07-29 105376199 ENSG00000228317 NR_184141 -HGNC:14439 FLACC1 flagellum associated containing coiled-coil domains 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 ALS2CR12 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12|ALS2 chromosome region 12" 2001-01-26 2019-02-25 2019-02-25 2023-01-20 130540 ENSG00000155749 OTTHUMG00000132824 uc010ftg.3 AB053314 NM_139163 "CCDS46488|CCDS2346" Q96Q35 "11586298|21402173" MGI:1918359 RGD:1359362 619796 HGNC:14439 "ENST00000392257.8|NM_001127391.3" -HGNC:24671 FLAD1 flavin adenine dinucleotide synthetase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PP591|FAD1" "Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)|FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)|flavin adenine dinucleotide synthetase" 2005-07-29 2013-03-05 2023-01-20 80308 ENSG00000160688 OTTHUMG00000037416 uc001fge.3 NM_025207 "CCDS53372|CCDS53371|CCDS1078|CCDS1079" Q8NFF5 MGI:2443030 RGD:1593292 610595 470342 2.7.7.2 HGNC:24671 "ENST00000292180.8|NM_025207.5" HGNC:24671 +HGNC:14439 FLACC1 flagellum associated containing coiled-coil domains 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 ALS2CR12 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12|ALS2 chromosome region 12" 2001-01-26 2019-02-25 2019-02-25 2023-01-20 130540 ENSG00000155749 OTTHUMG00000132824 uc010ftg.3 AB053314 NM_139163 "CCDS2346|CCDS46488" Q96Q35 "11586298|21402173" MGI:1918359 RGD:1359362 619796 HGNC:14439 "ENST00000392257.8|NM_001127391.3" +HGNC:24671 FLAD1 flavin adenine dinucleotide synthetase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PP591|FAD1" "Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)|FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)|flavin adenine dinucleotide synthetase" 2005-07-29 2013-03-05 2023-01-20 80308 ENSG00000160688 OTTHUMG00000037416 uc001fge.3 NM_025207 "CCDS1078|CCDS1079|CCDS53372|CCDS53371" Q8NFF5 MGI:2443030 RGD:1593292 610595 470342 2.7.7.2 HGNC:24671 "ENST00000292180.8|NM_025207.5" HGNC:24671 HGNC:27310 FLCN folliculin protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "BHD|MGC17998|MGC23445|DENND8B" DENN domain containing 504 2004-08-05 2023-01-20 201163 ENSG00000154803 OTTHUMG00000059275 uc002gra.5 AF517523 NM_144606 "CCDS32579|CCDS32580" Q8NFG4 17028174 MGI:2442184 RGD:735088 "LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=FLCN|The Folliculin Mutation Database|http://www.skingenedatabase.com/home.php?select_db=FLCN|LRG_325|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_325.xml" FLCN 607273 121839 HGNC:27310 "ENST00000285071.9|NM_144997.7" HGNC:27310 HGNC:3748 FLG filaggrin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "FLG1|FLG-1" "EF-hand domain containing|S100 fused type protein family" "863|1350" 1989-10-18 2023-01-20 2312 ENSG00000143631 OTTHUMG00000012202 uc001ezu.1 NM_002016 CCDS30860 P20930 "2740331|2248957|16444271" RGD:2620 LRG_1028|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1028.xml 135940 121844 HGNC:3748 "ENST00000368799.2|NM_002016.2" HGNC:3748 HGNC:27913 FLG-AS1 FLG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 FLG antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2014-11-19 339400 ENSG00000237975 OTTHUMG00000012203 uc057kzw.1 "BC041408|AK056431" NR_103778 12477932 FLG-AS1 HGNC:27913 HGNC:33276 FLG2 filaggrin 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 IFPS ifapsoriasin filaggrin family member 2 "EF-hand domain containing|S100 fused type protein family" "863|1350" 2007-08-21 2021-10-28 2023-01-20 388698 ENSG00000143520 OTTHUMG00000012245 uc001ezw.5 AY827490 NM_001014342 CCDS30861 Q5D862 19384417 MGI:3645678 RGD:1566121 616284 HGNC:33276 "ENST00000388718.5|NM_001014342.3" HGNC:33276 -HGNC:3749 FLI1 Fli-1 proto-oncogene, ETS transcription factor protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "SIC-1|EWSR2|FLI-1" Friend leukemia virus integration 1 ETS transcription factor family 534 1991-06-05 2013-08-07 2023-01-20 2313 ENSG00000151702 OTTHUMG00000165792 uc010sbu.3 M98833 NM_002017 "CCDS53725|CCDS59231|CCDS44768|CCDS59230" Q01543 1765382 MGI:95554 RGD:1309837 LRG_646|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_646.xml FLI1 193067 121846 HGNC:3749 "ENST00000527786.7|NM_002017.5" HGNC:3749 +HGNC:3749 FLI1 Fli-1 proto-oncogene, ETS transcription factor protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "SIC-1|EWSR2|FLI-1" Friend leukemia virus integration 1 ETS transcription factor family 534 1991-06-05 2013-08-07 2023-01-20 2313 ENSG00000151702 OTTHUMG00000165792 uc010sbu.3 M98833 NM_002017 "CCDS44768|CCDS53725|CCDS59230|CCDS59231" Q01543 1765382 MGI:95554 RGD:1309837 LRG_646|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_646.xml FLI1 193067 121846 HGNC:3749 "ENST00000527786.7|NM_002017.5" HGNC:3749 HGNC:53589 FLICR FOXP3 regulating long intergenic non-coding RNA non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 Long non-coding RNAs with non-systematic symbols 1992 2017-06-16 2017-06-16 110437700 NR_147988 28396406 HGNC:53589 -HGNC:3750 FLII FLII actin remodeling protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLI|FLIL|Fli1|MGC39265" "flightless I (Drosophila) homolog|flightless I homolog (Drosophila)|flightless I actin binding protein" Gelsolin/villins 950 1995-10-11 2019-01-21 2023-01-20 2314 ENSG00000177731 OTTHUMG00000059389 uc002gsr.3 U01184 NM_002018 "CCDS58521|CCDS11192|CCDS58522" Q13045 "7825574|26521845|22581781" MGI:1342286 RGD:1307590 600362 121850 HGNC:3750 "ENST00000327031.9|NM_002018.4" +HGNC:3750 FLII FLII actin remodeling protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLI|FLIL|Fli1|MGC39265" "flightless I (Drosophila) homolog|flightless I homolog (Drosophila)|flightless I actin binding protein" Gelsolin/villins 950 1995-10-11 2019-01-21 2023-01-20 2314 ENSG00000177731 OTTHUMG00000059389 uc002gsr.3 U01184 NM_002018 "CCDS11192|CCDS58521|CCDS58522" Q13045 "7825574|26521845|22581781" MGI:1342286 RGD:1307590 600362 121850 HGNC:3750 "ENST00000327031.9|NM_002018.4" HGNC:3754 FLNA filamin A protein-coding gene gene with protein product Approved Xq28 Xq28 ABP-280 "actin binding protein 280|alpha filamin" "FLN1|FLN|OPD2|OPD1" "filamin A, alpha (actin binding protein 280)|filamin A, alpha" Filamins 1889 1993-03-18 2015-12-16 2023-01-20 2316 ENSG00000196924 OTTHUMG00000022712 uc010nuu.1 X70082 NM_001110556 P21333 "8406501|12612583" MGI:95556 RGD:1560614 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FLNA|LRG_1340|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1340.xml" 300017 121853 HGNC:3754 "ENST00000369850.10|NM_001110556.2" HGNC:3754 -HGNC:3755 FLNB filamin B protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "TAP|TABP|ABP-278|FH1" "actin binding protein 278|beta filamin" "FLN1L|LRS1" "filamin B, beta (actin binding protein 278)|Larsen syndrome 1 (autosomal dominant)|filamin B, beta" Filamins 1889 1997-06-20 2015-12-16 2023-01-20 2317 ENSG00000136068 OTTHUMG00000159158 uc003djj.3 AF043045 NM_001457 "CCDS54600|CCDS54601|CCDS54599|CCDS2885" O75369 "8327473|10449914|14991055|16801345" MGI:2446089 RGD:1311915 603381 121860 HGNC:3755 "ENST00000295956.9|NM_001457.4" HGNC:3755 +HGNC:3755 FLNB filamin B protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "TAP|TABP|ABP-278|FH1" "actin binding protein 278|beta filamin" "FLN1L|LRS1" "filamin B, beta (actin binding protein 278)|Larsen syndrome 1 (autosomal dominant)|filamin B, beta" Filamins 1889 1997-06-20 2015-12-16 2023-01-20 2317 ENSG00000136068 OTTHUMG00000159158 uc003djj.3 AF043045 NM_001457 "CCDS2885|CCDS54600|CCDS54599|CCDS54601" O75369 "8327473|10449914|14991055|16801345" MGI:2446089 RGD:1311915 603381 121860 HGNC:3755 "ENST00000295956.9|NM_001457.4" HGNC:3755 HGNC:40239 FLNB-AS1 FLNB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 FLNB antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2020-04-20 105377105 ENSG00000244161 OTTHUMG00000159156 uc003djn.5 NR_135534 FLNB-AS1 HGNC:40239 HGNC:3756 FLNC filamin C protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "ABP-280|ABPL" "actin binding protein 280|gamma filamin" FLN2 "filamin C, gamma (actin binding protein 280)|filamin C, gamma" Filamins 1889 1993-08-24 2015-12-16 2023-01-20 2318 ENSG00000128591 OTTHUMG00000023627 uc003vnz.5 AB208865 NM_001127487 "CCDS43644|CCDS47705" Q14315 "7689010|8088838" MGI:95557 RGD:1308807 LRG_870|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_870.xml 102565 121867 HGNC:3756 "ENST00000325888.13|NM_001458.5" HGNC:3756 HGNC:53474 FLNC-AS1 FLNC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q32.1 07q32.1 Antisense RNAs 1987 2017-04-28 2017-04-28 110806300 ENSG00000242902 OTTHUMG00000158366 NR_149055 28391028 HGNC:53474 @@ -9296,24 +9297,24 @@ HGNC:3760 FLRT1 fibronectin leucine rich transmembrane protein 1 protein-coding HGNC:3761 FLRT2 fibronectin leucine rich transmembrane protein 2 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 Fibronectin type III domain containing 555 1999-10-29 2023-01-20 23768 ENSG00000185070 OTTHUMG00000171372 uc001xvr.4 AF169676 NM_001346143 CCDS9877 O43155 "10644439|16872596" MGI:3603594 RGD:1308574 604807 HGNC:3761 "ENST00000330753.6|NM_013231.6" HGNC:55912 FLRT2-AS1 FLRT2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 AL049775.1 Antisense RNAs 1987 2021-10-08 2022-10-17 100506731 ENSG00000205562 NR_184170 HGNC:3762 FLRT3 fibronectin leucine rich transmembrane protein 3 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 Fibronectin type III domain containing 555 1999-10-29 2023-01-20 23767 ENSG00000125848 OTTHUMG00000031914 uc002wow.3 AF169677 NM_013281 CCDS13121 Q9NZU0 10644439 MGI:1918686 RGD:1566005 604808 353751 HGNC:3762 "ENST00000341420.5|NM_198391.3" HGNC:3762 -HGNC:3763 FLT1 fms related receptor tyrosine kinase 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 VEGFR1 "vascular endothelial growth factor receptor 1|vascular permeability factor receptor" FLT "fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)|fms-related tyrosine kinase 1|fms related tyrosine kinase 1" "Receptor tyrosine kinases|I-set domain containing" "321|593" 1986-01-01 2019-12-05 2023-01-20 2321 ENSG00000102755 OTTHUMG00000016648 uc001usb.4 AF063657 NM_002019 "CCDS53860|CCDS53861|CCDS73556|CCDS9330" P17948 2158038 MGI:95558 RGD:2621 "The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=FLT1|LRG_425|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_425.xml" 165070 objectId:1812 2.7.10.1 HGNC:3763 "ENST00000282397.9|NM_002019.4" +HGNC:3763 FLT1 fms related receptor tyrosine kinase 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 VEGFR1 "vascular endothelial growth factor receptor 1|vascular permeability factor receptor" FLT "fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)|fms-related tyrosine kinase 1|fms related tyrosine kinase 1" "Receptor tyrosine kinases|I-set domain containing" "321|593" 1986-01-01 2019-12-05 2023-01-20 2321 ENSG00000102755 OTTHUMG00000016648 uc001usb.4 AF063657 NM_002019 "CCDS53860|CCDS9330|CCDS53861|CCDS73556" P17948 2158038 MGI:95558 RGD:2621 "The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=FLT1|LRG_425|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_425.xml" 165070 objectId:1812 2.7.10.1 HGNC:3763 "ENST00000282397.9|NM_002019.4" HGNC:44609 FLT1P1 FLT1 pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 LOC391533 fms related tyrosine kinase 1 pseudogene 1 2012-11-19 2019-12-05 2019-12-05 391533 ENSG00000229515 OTTHUMG00000156234 NG_005897 24312300 PGOHUM00000237611 HGNC:44609 HGNC:3765 FLT3 fms related receptor tyrosine kinase 3 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "STK1|FLK2|CD135" "fms-related tyrosine kinase 3|fms related tyrosine kinase 3" "Receptor tyrosine kinases|CD molecules|Immunoglobulin like domain containing" "321|471|594" 1990-07-30 2019-12-05 2023-01-20 2322 ENSG00000122025 OTTHUMG00000016646 uc001urw.3 U02687 NM_004119 CCDS31953 P36888 8394751 MGI:95559 RGD:61308 LRG_457|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_457.xml FLT3 136351 138366 objectId:1807 CD135 2.7.10.1 HGNC:3765 "ENST00000241453.12|NM_004119.3" -HGNC:3766 FLT3LG fms related receptor tyrosine kinase 3 ligand protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "fms-related tyrosine kinase 3 ligand|fms related tyrosine kinase 3 ligand" Receptor ligands 542 1994-07-21 2019-12-05 2023-01-20 2323 ENSG00000090554 OTTHUMG00000186490 uc002pnu.4 U04806 NM_001204502 "CCDS12767|CCDS62753" P49771 "8145851|7824267" MGI:95560 RGD:2322792 600007 ligandId:4932 HGNC:3766 "ENST00000597551.6|NM_001459.4" -HGNC:3767 FLT4 fms related receptor tyrosine kinase 4 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "VEGFR3|PCL|VEGFR-3" "vascular endothelial growth factor receptor 3|VEGF receptor-3|Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4|primary congenital lymphedema" "fms-related tyrosine kinase 4|fms related tyrosine kinase 4" "Receptor tyrosine kinases|I-set domain containing" "321|593" 1991-10-25 2019-12-05 2023-01-20 2324 ENSG00000037280 OTTHUMG00000130931 uc003mlz.4 X68203 NM_001354989 "CCDS87360|CCDS4457|CCDS43412" P35916 1319394 MGI:95561 RGD:621737 FLT4 136352 121872 objectId:1814 2.7.10.1 HGNC:3767 "ENST00000261937.11|NM_182925.5" HGNC:3767 +HGNC:3766 FLT3LG fms related receptor tyrosine kinase 3 ligand protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "fms-related tyrosine kinase 3 ligand|fms related tyrosine kinase 3 ligand" Receptor ligands 542 1994-07-21 2019-12-05 2023-01-20 2323 ENSG00000090554 OTTHUMG00000186490 uc002pnu.4 U04806 NM_001204502 "CCDS62753|CCDS12767" P49771 "8145851|7824267" MGI:95560 RGD:2322792 600007 ligandId:4932 HGNC:3766 "ENST00000597551.6|NM_001459.4" +HGNC:3767 FLT4 fms related receptor tyrosine kinase 4 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "VEGFR3|PCL|VEGFR-3" "vascular endothelial growth factor receptor 3|VEGF receptor-3|Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4|primary congenital lymphedema" "fms-related tyrosine kinase 4|fms related tyrosine kinase 4" "Receptor tyrosine kinases|I-set domain containing" "321|593" 1991-10-25 2019-12-05 2023-01-20 2324 ENSG00000037280 OTTHUMG00000130931 uc003mlz.4 X68203 NM_001354989 "CCDS43412|CCDS87360|CCDS4457" P35916 1319394 MGI:95561 RGD:621737 FLT4 136352 121872 objectId:1814 2.7.10.1 HGNC:3767 "ENST00000261937.11|NM_182925.5" HGNC:3767 HGNC:24682 FLVCR1 FLVCR heme transporter 1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "FLVCR|MFSD7B|PCA|SLC49A1" AXPC1 "ataxia, posterior column 1, with retinitis pigmentosa|feline leukemia virus subgroup C cellular receptor 1" Solute carrier family 49 2199 2007-05-01 2019-09-30 2023-06-05 28982 ENSG00000162769 OTTHUMG00000036924 uc001hjt.3 AF118637 NM_014053 CCDS1510 Q9Y5Y0 "10648427|21070897|26067085|37100056" MGI:2444881 RGD:1596541 609144 SLC49A1 246647 objectId:1910 HGNC:24682 "ENST00000366971.9|NM_014053.4" HGNC:24682 HGNC:39077 FLVCR1-DT FLVCR1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 LQK1 "NCRNA00292|FLVCR1-AS1" "non-protein coding RNA 292|FLVCR1 antisense RNA 1 (non-protein coding)|FLVCR1 antisense RNA 1|FLVCR1 antisense RNA 1 (head to head)" Divergent transcripts 1990 2010-10-05 2018-03-23 2018-03-23 2018-06-20 642946 ENSG00000198468 OTTHUMG00000036923 uc057pgy.1 NR_027285 Q8TAF5 "11943475|29574975" 610864 FLVCR1-AS1 HGNC:39077 HGNC:20105 FLVCR2 FLVCR heme transporter 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ20371|MFSD7C|SLC49A2|CCT" C14orf58 "chromosome 14 open reading frame 58|feline leukemia virus subgroup C cellular receptor 2|feline leukemia virus subgroup C cellular receptor family member 2" "MicroRNA protein coding host genes|Solute carrier family 49" "1691|2199" 2002-12-18 2007-05-01 2019-09-30 2023-05-03 55640 ENSG00000119686 OTTHUMG00000171487 uc001xrs.3 AK000378 NM_017791 "CCDS55933|CCDS9844" Q9UPI3 "16439531|20206334" MGI:2384974 RGD:735098 610865 SLC49A2 227058 objectId:1911 HGNC:20105 "ENST00000238667.9|NM_017791.3" HGNC:20105 HGNC:55854 FLVCR2-AS1 FLVCR2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 AC007182.6 Antisense RNAs 1987 2021-09-03 2022-08-17 102724153 ENSG00000224721 NR_110552 -HGNC:25404 FLYWCH1 FLYWCH-type zinc finger 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 DKFZp761A132 Zinc fingers 26 2005-02-08 2007-06-21 2007-06-21 2023-01-20 84256 ENSG00000059122 OTTHUMG00000177364 uc002csc.4 AL136585 NM_032296 "CCDS45390|CCDS76809" Q4VC44 "11230166|10997877" MGI:2442638 RGD:1309385 HGNC:25404 "ENST00000253928.14|NM_001308068.2" +HGNC:25404 FLYWCH1 FLYWCH-type zinc finger 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 DKFZp761A132 Zinc fingers 26 2005-02-08 2007-06-21 2007-06-21 2023-01-20 84256 ENSG00000059122 OTTHUMG00000177364 uc002csc.4 AL136585 NM_032296 "CCDS76809|CCDS45390" Q4VC44 "11230166|10997877" MGI:2442638 RGD:1309385 HGNC:25404 "ENST00000253928.14|NM_001308068.2" HGNC:38033 FLYWCH1P1 FLYWCH-type zinc finger 1 pseudogene 1 pseudogene pseudogene Approved 3q26.33 03q26.33 2010-03-23 2014-11-19 100130898 ENSG00000239516 OTTHUMG00000157928 NG_022230 PGOHUM00000237881 HGNC:38033 HGNC:25178 FLYWCH2 FLYWCH family member 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 2007-06-21 2007-06-21 2023-01-20 114984 ENSG00000162076 OTTHUMG00000128962 uc002csa.4 BC014089 NM_138439 CCDS10482 Q96CP2 12477932 MGI:1924167 RGD:11436072 HGNC:25178 "ENST00000396958.8|NM_138439.3" HGNC:26946 FMC1 formation of mitochondrial complex V assembly factor 1 homolog protein-coding gene gene with protein product Approved 7q34 07q34 HSPC268 formation of mitochondrial complexes 1 homolog (S. cerevisiae) C7orf55 "chromosome 7 open reading frame 55|formation of mitochondrial complex V assembly factor 1" Mitochondrial respiratory chain complex assembly factors 645 2007-07-13 2016-06-16 2016-06-16 2023-01-20 154791 ENSG00000164898 OTTHUMG00000151719 uc003vuw.5 AF161386 NM_197964 CCDS5853 Q96HJ9 "11096112|28719601" MGI:1913367 RGD:1559476 HGNC:26946 "ENST00000297534.7|NM_197964.5" HGNC:44671 FMC1-LUC7L2 FMC1-LUC7L2 readthrough other readthrough Approved 7q34 07q34 C7orf55-LUC7L2 C7orf55-LUC7L2 readthrough 2013-02-14 2018-11-26 2018-11-26 2023-03-15 100996928 ENSG00000269955 OTTHUMG00000151717 uc011kqt.4 NM_001244584 MGI:1913367 HGNC:44671 -HGNC:3768 FMN1 formin 1 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "DKFZP686C2281|FLJ45135|MGC125288|MGC125289" limb deformity protein "LD|FMN" formin (limb deformity) Formins 2006 1990-03-12 2005-01-22 2005-01-20 2023-01-20 342184 ENSG00000248905 OTTHUMG00000172201 uc001zhf.6 AH002864 NM_001103184 "CCDS45209|CCDS61581|CCDS61582" Q68DA7 1673046 MGI:101815 RGD:1306349 136535 470344 HGNC:3768 "ENST00000616417.5|NM_001277313.2" +HGNC:3768 FMN1 formin 1 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "DKFZP686C2281|FLJ45135|MGC125288|MGC125289" limb deformity protein "LD|FMN" formin (limb deformity) Formins 2006 1990-03-12 2005-01-22 2005-01-20 2023-01-20 342184 ENSG00000248905 OTTHUMG00000172201 uc001zhf.6 AH002864 NM_001103184 "CCDS61582|CCDS61581|CCDS45209" Q68DA7 1673046 MGI:101815 RGD:1306349 136535 470344 HGNC:3768 "ENST00000616417.5|NM_001277313.2" HGNC:14074 FMN2 formin 2 protein-coding gene gene with protein product Approved 1q43 01q43 Formins 2006 2000-11-28 2023-01-20 56776 ENSG00000155816 OTTHUMG00000039883 uc010pyd.3 AF218942 NM_020066 CCDS31069 Q9NZ56 10781961 MGI:1859252 RGD:2322099 606373 420169 HGNC:14074 "ENST00000319653.14|NM_020066.5" HGNC:14074 HGNC:54909 FMN2P1 FMN2 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-04-24 100418721 ENSG00000231388 NG_026808 -HGNC:1212 FMNL1 formin like 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 C17orf1 "C17orf1B|FMNL" "formin-like|formin-like 1" "Armadillo like helical domain containing|Formins" "1492|2006" 1999-06-25 2003-12-03 2015-11-12 2023-01-20 752 ENSG00000184922 OTTHUMG00000180196 uc002iin.4 AJ008112 NM_005892 "CCDS11497|CCDS92339" O95466 "9799091|12684686" MGI:1888994 RGD:1311042 604656 HGNC:1212 "ENST00000331495.8|NM_005892.4" +HGNC:1212 FMNL1 formin like 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 C17orf1 "C17orf1B|FMNL" "formin-like|formin-like 1" "Armadillo like helical domain containing|Formins" "1492|2006" 1999-06-25 2003-12-03 2015-11-12 2023-01-20 752 ENSG00000184922 OTTHUMG00000180196 uc002iin.4 AJ008112 NM_005892 "CCDS92339|CCDS11497" O95466 "9799091|12684686" MGI:1888994 RGD:1311042 604656 HGNC:1212 "ENST00000331495.8|NM_005892.4" HGNC:55717 FMNL1-AS1 FMNL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Antisense RNAs 1987 2021-07-12 2021-07-12 107985040 ENSG00000233175 HGNC:55311 FMNL1-DT FMNL1 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 CTD-2020K17.1 Divergent transcripts 1990 2020-10-19 2023-01-09 339192 ENSG00000267121 NR_147507 29504606 HGNC:18267 FMNL2 formin like 2 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 KIAA1902 FHOD2 "formin homology 2 domain containing 2|formin-like 2" "Armadillo like helical domain containing|Formins" "1492|2006" 2002-02-19 2003-12-03 2015-11-12 2023-01-20 114793 ENSG00000157827 OTTHUMG00000154035 uc002tye.3 AB067489 NM_052905 CCDS46429 Q96PY5 12684686 MGI:1918659 RGD:1560248 616285 HGNC:18267 "ENST00000288670.14|NM_052905.4" @@ -9322,7 +9323,7 @@ HGNC:3769 FMO1 flavin containing dimethylaniline monoxygenase 1 protein-coding g HGNC:3770 FMO2 flavin containing dimethylaniline monoxygenase 2 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 Dimethylaniline monooxygenase [N-oxide-forming] 2 "flavin containing monooxygenase 2 (non-functional)|flavin containing monooxygenase 2" Flavin containing monooxygenases 1667 1994-05-06 2019-04-25 2023-01-20 2327 ENSG00000094963 OTTHUMG00000035504 uc057ngi.1 BC005894 NM_001460 CCDS1293 Q99518 "1417778|9804831" MGI:1916776 RGD:628600 603955 HGNC:3770 "ENST00000209929.10|NM_001460.5" HGNC:3771 FMO3 flavin containing dimethylaniline monoxygenase 3 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 FMOII Dimethylaniline monooxygenase [N-oxide-forming] 3 flavin containing monooxygenase 3 "Flavin containing monooxygenases|MicroRNA protein coding host genes" "1667|1691" 1992-10-16 2019-04-25 2023-01-20 2328 ENSG00000007933 OTTHUMG00000035505 uc001ghi.3 BC032016 NM_006894 CCDS1292 P31513 "8486388|9417913" MGI:1100496 RGD:619761 The Homo sapients FMO3 Allelic Variant Database|http://databases.lovd.nl/shared/genes/FMO3 136132 121876 1.14.13.148 HGNC:3771 "ENST00000367755.9|NM_001002294.3" HGNC:3771 HGNC:3772 FMO4 flavin containing dimethylaniline monoxygenase 4 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 FMO2 flavin containing monooxygenase 4 Flavin containing monooxygenases 1667 1991-08-01 2019-04-25 2023-01-20 2329 ENSG00000076258 OTTHUMG00000035506 uc001gho.4 BC002780 NM_002022 CCDS1295 P31512 8311461 MGI:2429497 RGD:628601 136131 1.14.13.8 HGNC:3772 "ENST00000367749.4|NM_002022.3" -HGNC:3773 FMO5 flavin containing dimethylaniline monoxygenase 5 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 flavin containing monooxygenase 5 Flavin containing monooxygenases 1667 1994-05-05 2019-04-25 2023-01-20 2330 ENSG00000131781 OTTHUMG00000014607 uc001epi.4 Z47553 NM_001461 "CCDS926|CCDS44210|CCDS44209" P49326 "8786146|9119381|28783300" MGI:1310004 RGD:628602 603957 HGNC:3773 "ENST00000254090.9|NM_001461.4" +HGNC:3773 FMO5 flavin containing dimethylaniline monoxygenase 5 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 flavin containing monooxygenase 5 Flavin containing monooxygenases 1667 1994-05-05 2019-04-25 2023-01-20 2330 ENSG00000131781 OTTHUMG00000014607 uc001epi.4 Z47553 NM_001461 "CCDS44210|CCDS926|CCDS44209" P49326 "8786146|9119381|28783300" MGI:1310004 RGD:628602 603957 HGNC:3773 "ENST00000254090.9|NM_001461.4" HGNC:24024 FMO6P flavin containing dimethylaniline monoxygenase 6, pseudogene pseudogene pseudogene Approved 1q24.3 01q24.3 FMO6 "flavin containing monooxygenase 6|flavin containing monooxygenase 6, pseudogene" Flavin containing monooxygenases 1667 2005-05-19 2006-12-04 2019-04-25 2019-04-25 388714 ENSG00000117507 OTTHUMG00000035503 AK130511 XM_371326 O60774 15077013 MGI:2681841 RGD:1559491 HGNC:24024 HGNC:32208 FMO7P flavin containing dimethylaniline monoxygenase 7, pseudogene pseudogene pseudogene Approved 1q24.1 01q24.1 flavin containing monooxygenase 7, pseudogene Flavin containing monooxygenases 1667 2008-12-08 2019-04-25 2019-04-25 100337589 ENSG00000230231 OTTHUMG00000033266 NG_016467 15077013 HGNC:32208 HGNC:32209 FMO8P flavin containing dimethylaniline monoxygenase 8, pseudogene pseudogene pseudogene Approved 1q24.1 01q24.1 flavin containing monooxygenase 8, pseudogene Flavin containing monooxygenases 1667 2008-12-08 2019-04-25 2019-04-25 100129007 ENSG00000238087 OTTHUMG00000033268 NG_009755 15077013 HGNC:32209 @@ -9330,16 +9331,16 @@ HGNC:32210 FMO9P flavin containing dimethylaniline monoxygenase 9, pseudogene ps HGNC:32211 FMO10P flavin containing dimethylaniline monoxygenase 10, pseudogene pseudogene pseudogene Approved 1q24.1 01q24.1 flavin containing monooxygenase 10, pseudogene Flavin containing monooxygenases 1667 2008-12-08 2019-04-25 2019-04-25 100128181 ENSG00000234984 OTTHUMG00000034323 NG_009811 15077013 HGNC:32211 HGNC:32212 FMO11P flavin containing dimethylaniline monoxygenase 11, pseudogene pseudogene pseudogene Approved 1q24.1 01q24.1 flavin containing monooxygenase 11, pseudogene Flavin containing monooxygenases 1667 2008-12-08 2019-04-25 2019-04-25 100337590 ENSG00000232148 OTTHUMG00000034317 NG_016468 15077013 HGNC:32212 HGNC:3774 FMOD fibromodulin protein-coding gene gene with protein product Approved 1q32.1 01q32.1 SLRR2E fibromodulin proteoglycan Small leucine rich repeat proteoglycans 573 1994-04-15 2023-01-20 2331 ENSG00000122176 OTTHUMG00000035910 uc001gzr.5 U05291 NM_002023 CCDS30976 Q06828 7851907 MGI:1328364 RGD:619769 600245 HGNC:3774 "ENST00000354955.5|NM_002023.5" -HGNC:3775 FMR1 fragile X messenger ribonucleoprotein 1 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "FMRP|FRAXA|MGC87458" "POF1|POF" "premature ovarian failure 1|fragile X mental retardation 1|FMRP translational regulator 1" 1992-01-17 2022-04-01 2023-01-20 2332 ENSG00000102081 OTTHUMG00000022606 uc010nst.4 X69962 NM_002024 "CCDS14682|CCDS55519|CCDS76039|CCDS55518" Q06787 1572655 MGI:95564 RGD:2623 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FMR1|LRG_762|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_762.xml" 309550 121878 HGNC:3775 "ENST00000370475.9|NM_002024.6" HGNC:3775 +HGNC:3775 FMR1 fragile X messenger ribonucleoprotein 1 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "FMRP|FRAXA|MGC87458" "POF1|POF" "premature ovarian failure 1|fragile X mental retardation 1|FMRP translational regulator 1" 1992-01-17 2022-04-01 2023-01-20 2332 ENSG00000102081 OTTHUMG00000022606 uc010nst.4 X69962 NM_002024 "CCDS14682|CCDS55519|CCDS55518|CCDS76039" Q06787 1572655 MGI:95564 RGD:2623 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FMR1|LRG_762|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_762.xml" 309550 121878 HGNC:3775 "ENST00000370475.9|NM_002024.6" HGNC:3775 HGNC:39081 FMR1-AS1 FMR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq27.3 Xq27.3 "ASFMR1|FMR4" "antisense fragile X messenger ribonucleoprotein 1|antisense fragile X mental retardation protein" "FMR1AS|FMR1-AS" "FMR1 antisense RNA (non-protein coding)|FMR1 antisense RNA 1 (non-protein coding)|FMR1 antisense RNA 1 (head to head)" Antisense RNAs 1987 2010-10-05 2010-11-25 2018-03-23 2022-04-01 100126270 ENSG00000268066 OTTHUMG00000182466 uc065blh.1 NR_024499 "17921506|18213394" 300805 FMR1-AS1 HGNC:39081 HGNC:41333 FMR1-IT1 FMR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xq27.3 Xq27.3 FMR1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 106478973 ENSG00000236337 OTTHUMG00000046184 uc065bma.1 FMR1-IT1 HGNC:26372 FMR1NB FMR1 neighbor protein-coding gene gene with protein product Approved Xq27.3-q28 Xq27.3-q28 "FLJ25736|NY-SAR-35|CT37" cancer/testis antigen 37 fragile X mental retardation 1 neighbor 2004-02-11 2017-02-22 2023-01-20 158521 ENSG00000176988 OTTHUMG00000022608 uc004fcm.3 NM_152578 CCDS14683 Q8N0W7 12601173 MGI:2672032 RGD:1564059 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FMR1NB HGNC:26372 "ENST00000370467.8|NM_152578.3" -HGNC:3778 FN1 fibronectin 1 protein-coding gene gene with protein product Approved 2q35 02q35 "MSF|CIG|LETS|GFND2|FINC|lnc-ABCA12-8" "migration-stimulating factor|cold-insoluble globulin" "Receptor ligands|Fibronectin type III domain containing" "542|555" 2001-06-22 2023-03-15 2335 ENSG00000115414 OTTHUMG00000133054 uc002vfa.4 NM_212476 "CCDS42814|CCDS77522|CCDS42813|CCDS92940|CCDS2400|CCDS46510|CCDS77523|CCDS46512|CCDS2399|CCDS77526|CCDS77525" P02751 "2992939|3003095" MGI:95566 RGD:2624 135600 159592 ligandId:6754 HGNC:3778 "ENST00000354785.11|NM_212482.4" HGNC:3778 +HGNC:3778 FN1 fibronectin 1 protein-coding gene gene with protein product Approved 2q35 02q35 "MSF|CIG|LETS|GFND2|FINC|lnc-ABCA12-8" "migration-stimulating factor|cold-insoluble globulin" "Receptor ligands|Fibronectin type III domain containing" "542|555" 2001-06-22 2023-03-15 2335 ENSG00000115414 OTTHUMG00000133054 uc002vfa.4 NM_212476 "CCDS77526|CCDS77525|CCDS92940|CCDS77523|CCDS46512|CCDS2400|CCDS46510|CCDS42813|CCDS42814|CCDS2399|CCDS77522" P02751 "2992939|3003095" MGI:95566 RGD:2624 135600 159592 ligandId:6754 HGNC:3778 "ENST00000354785.11|NM_212482.4" HGNC:3778 HGNC:55775 FN1-DT FN1 divergent transcript non-coding RNA RNA, long non-coding Approved 2q35 02q35 Divergent transcripts 1990 2021-07-22 2021-07-22 105373868 ENSG00000230695 XR_923862 HGNC:24822 FN3K fructosamine 3 kinase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 2004-11-29 2023-01-20 64122 ENSG00000167363 OTTHUMG00000177847 uc010wvs.2 AJ404615 NM_022158 CCDS11818 Q9H479 "11522682|14641062" MGI:1926834 RGD:1559983 608425 HGNC:24822 "ENST00000300784.8|NM_022158.4" HGNC:25700 FN3KRP fructosamine 3 kinase related protein protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ12171|FN3KL" 2009-01-14 2023-01-20 79672 ENSG00000141560 OTTHUMG00000177846 uc002kfu.4 AY360465 NM_024619 CCDS11817 Q9HA64 14633848 MGI:2679256 RGD:1304570 611683 HGNC:25700 "ENST00000269373.11|NM_024619.4" -HGNC:17069 FNBP1 formin binding protein 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "FBP17|KIAA0554" F-BAR domain containing 1288 2002-11-25 2023-01-20 23048 ENSG00000187239 OTTHUMG00000020800 uc004byw.2 AB011126 NM_001363755 "CCDS48040|CCDS87699|CCDS94507" Q96RU3 "9628581|11438682" MGI:109606 RGD:621350 606191 HGNC:17069 "ENST00000446176.7|NM_015033.3" -HGNC:20851 FNBP1L formin binding protein 1 like protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "TOCA1|FLJ20275" C1orf39 "chromosome 1 open reading frame 39|formin binding protein 1-like" F-BAR domain containing 1288 2003-05-08 2004-11-17 2016-01-21 2023-01-20 54874 ENSG00000137942 OTTHUMG00000010863 uc010otk.3 NM_017737 "CCDS53343|CCDS60192|CCDS53344" Q5T0N5 14654988 MGI:1925642 RGD:1305386 608848 HGNC:20851 "ENST00000271234.13|NM_001164473.3" +HGNC:17069 FNBP1 formin binding protein 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "FBP17|KIAA0554" F-BAR domain containing 1288 2002-11-25 2023-01-20 23048 ENSG00000187239 OTTHUMG00000020800 uc004byw.2 AB011126 NM_001363755 "CCDS87699|CCDS94507|CCDS48040" Q96RU3 "9628581|11438682" MGI:109606 RGD:621350 606191 HGNC:17069 "ENST00000446176.7|NM_015033.3" +HGNC:20851 FNBP1L formin binding protein 1 like protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "TOCA1|FLJ20275" C1orf39 "chromosome 1 open reading frame 39|formin binding protein 1-like" F-BAR domain containing 1288 2003-05-08 2004-11-17 2016-01-21 2023-01-20 54874 ENSG00000137942 OTTHUMG00000010863 uc010otk.3 NM_017737 "CCDS53343|CCDS53344|CCDS60192" Q5T0N5 14654988 MGI:1925642 RGD:1305386 608848 HGNC:20851 "ENST00000271234.13|NM_001164473.3" HGNC:44528 FNBP1P1 formin binding protein 1 pseudogene 1 pseudogene pseudogene Approved 2p13.1 02p13.1 2012-11-14 2012-11-14 100533642 ENSG00000257800 OTTHUMG00000170236 NG_028779 PGOHUM00000240689 HGNC:44528 HGNC:44527 FNBP1P2 formin binding protein 1 pseudogene 2 pseudogene pseudogene Approved 3p23 03p23 2012-11-14 2016-10-05 100419875 NG_025560 PGOHUM00000298981 HGNC:44527 HGNC:19752 FNBP4 formin binding protein 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 KIAA1014 2002-11-25 2023-01-20 23360 ENSG00000109920 OTTHUMG00000166533 uc009ylv.4 BC037404 NM_001318339 CCDS41644 Q8N3X1 10231032 MGI:1860513 RGD:1309238 615265 HGNC:19752 "ENST00000263773.10|NM_015308.5" @@ -9356,7 +9357,7 @@ HGNC:25286 FNDC8 fibronectin type III domain containing 8 protein-coding gene ge HGNC:33547 FNDC9 fibronectin type III domain containing 9 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 MGC27121 C5orf40 chromosome 5 open reading frame 40 Fibronectin type III domain containing 555 2007-07-26 2011-01-25 2011-01-25 2023-01-20 408263 ENSG00000172568 OTTHUMG00000130248 uc003lwu.3 BC022570 NM_001001343 CCDS4337 Q8TBE3 MGI:2443410 RGD:2318580 HGNC:33547 "ENST00000312349.5|NM_001001343.4" HGNC:42951 FNDC10 fibronectin type III domain containing 10 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 C1orf233 chromosome 1 open reading frame 233 2012-02-03 2016-06-07 2016-06-07 2023-01-20 643988 ENSG00000228594 OTTHUMG00000154864 uc021oes.2 NM_001242659 CCDS55559 F2Z333 MGI:2444790 RGD:1589420 HGNC:42951 "ENST00000422725.4|NM_001242659.2" HGNC:28764 FNDC11 fibronectin type III domain containing 11 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 MGC5356 C20orf195 chromosome 20 open reading frame 195 2005-12-23 2016-06-07 2016-06-07 2023-01-20 79025 ENSG00000125531 OTTHUMG00000032980 uc002yfj.4 NM_024059 CCDS13526 Q9BVV2 12477932 MGI:3051572 RGD:1564340 HGNC:28764 "ENST00000370097.2|NM_001319152.2" -HGNC:29418 FNIP1 folliculin interacting protein 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 KIAA1961 DENN domain containing 504 2005-08-09 2023-01-20 96459 ENSG00000217128 OTTHUMG00000186338 uc003kvs.2 DQ145719 NM_133372 "CCDS34226|CCDS87321|CCDS87320|CCDS34227" Q8TF40 "11853319|17028174" MGI:2444668 RGD:2318339 610594 HGNC:29418 "ENST00000510461.6|NM_133372.3" HGNC:29418 +HGNC:29418 FNIP1 folliculin interacting protein 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 KIAA1961 DENN domain containing 504 2005-08-09 2023-01-20 96459 ENSG00000217128 OTTHUMG00000186338 uc003kvs.2 DQ145719 NM_133372 "CCDS34227|CCDS87321|CCDS87320|CCDS34226" Q8TF40 "11853319|17028174" MGI:2444668 RGD:2318339 610594 HGNC:29418 "ENST00000510461.6|NM_133372.3" HGNC:29418 HGNC:29280 FNIP2 folliculin interacting protein 2 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "KIAA1450|FNIPL|MAPO1" O6-methylguanine-induced apoptosis 1 DENN domain containing 504 2008-03-06 2023-01-20 57600 ENSG00000052795 OTTHUMG00000161983 uc003iqe.5 AB040883 NM_020840 CCDS47155 Q9P278 18403135 MGI:2683054 RGD:1562174 612768 HGNC:29280 "ENST00000264433.11|NM_020840.3" HGNC:3782 FNTA farnesyltransferase, CAAX box, alpha protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "FPTA|PGGT1A|PTAR2" "protein prenyltransferase alpha subunit repeat containing 2|protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha" Prenyltransferase alpha subunit repeat containing 687 1993-04-08 2023-03-15 2339 ENSG00000168522 OTTHUMG00000165279 uc003xps.5 L10413 NM_002027 CCDS6140 P49354 8276393 MGI:104683 RGD:2625 134635 objectId:2825 HGNC:3782 "ENST00000302279.8|NM_002027.3" HGNC:3783 FNTAP1 farnesyltransferase, CAAX box, alpha pseudogene 1 pseudogene pseudogene Approved 11q14.2 11q14.2 FNTAL1 farnesyltransferase, CAAX box, alpha-like 1 1993-10-27 2010-10-13 2010-10-13 2020-04-07 283226 ENSG00000254502 OTTHUMG00000167208 NG_005139 8276393 PGOHUM00000242832 HGNC:3783 @@ -9364,7 +9365,7 @@ HGNC:3784 FNTAP2 farnesyltransferase, CAAX box, alpha pseudogene 2 pseudogene ps HGNC:3785 FNTB farnesyltransferase, CAAX box, beta protein-coding gene gene with protein product Approved 14q23.3 14q23.3 FPTB 1993-04-08 2023-01-20 2342 ENSG00000257365 OTTHUMG00000142811 uc001xia.4 NM_002028 CCDS9769 P49356 8276393 MGI:1861305 RGD:620119 134636 objectId:2826 HGNC:3785 "ENST00000246166.3|NM_002028.4" HGNC:23377 FOCAD focadhesin protein-coding gene gene with protein product Approved 9p21.3 09p21.3 FLJ20375 KIAA1797 KIAA1797 "Armadillo like helical domain containing|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1492|1691|1835" 2003-11-21 2012-03-23 2012-03-23 2023-01-20 54914 ENSG00000188352 OTTHUMG00000066930 uc003zog.2 AB058700 NM_017794 CCDS34993 Q5VW36 22427331 MGI:2676921 RGD:1311849 614606 HGNC:23377 "ENST00000338382.11|NM_001375567.1" HGNC:49789 FOCAD-AS1 FOCAD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p21.3 09p21.3 Antisense RNAs 1987 2014-02-14 2014-02-14 101929548 ENSG00000227071 OTTHUMG00000019649 "AI288976|AW363020" NR_121601 FOCAD-AS1 HGNC:49789 -HGNC:3788 FOLH1 folate hydrolase 1 protein-coding gene gene with protein product Approved 11p11.12 11p11.12 "PSM|PSMA|NAALAD1|NAALAdase|GCP2|GCPII" "glutamate carboxylase II|glutamate carboxypeptidase 2" FOLH folate hydrolase (prostate-specific membrane antigen) 1 M28 metallopeptidases 1444 1996-12-16 2016-06-21 2023-03-15 2346 ENSG00000086205 OTTHUMG00000166625 uc001ngy.3 M99487 NM_004476 "CCDS53628|CCDS7946|CCDS31493|CCDS53627" Q04609 9838072 MGI:1858193 RGD:70963 600934 M28.010 objectId:1606 3.4.17.21 HGNC:3788 "ENST00000256999.7|NM_004476.3" +HGNC:3788 FOLH1 folate hydrolase 1 protein-coding gene gene with protein product Approved 11p11.12 11p11.12 "PSM|PSMA|NAALAD1|NAALAdase|GCP2|GCPII" "glutamate carboxylase II|glutamate carboxypeptidase 2" FOLH folate hydrolase (prostate-specific membrane antigen) 1 M28 metallopeptidases 1444 1996-12-16 2016-06-21 2023-03-15 2346 ENSG00000086205 OTTHUMG00000166625 uc001ngy.3 M99487 NM_004476 "CCDS7946|CCDS31493|CCDS53628|CCDS53627" Q04609 9838072 MGI:1858193 RGD:70963 600934 M28.010 objectId:1606 3.4.17.21 HGNC:3788 "ENST00000256999.7|NM_004476.3" HGNC:13636 FOLH1B folate hydrolase 1B (pseudogene) pseudogene pseudogene Approved 11q14.3 11q14.3 PSMAL "prostate specific membrane antigen like protein|Cell growth-inhibiting gene 26 protein" "FOLH2|FOLHP" "folate hydrolase 2|folate hydrolase 1B" M28 metallopeptidases 1444 2009-04-21 2022-04-25 2023-03-15 219595 ENSG00000134612 OTTHUMG00000167376 AF261715 NM_153696 Q9HBA9 "9838072|14716746" MGI:1858193 609020 PGOHUM00000258599 objectId:1607 HGNC:13636 HGNC:3791 FOLR1 folate receptor alpha protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FRα FOLR "folate receptor 1 (adult)|folate receptor 1" 1991-08-08 2019-05-08 2023-01-20 2348 ENSG00000110195 OTTHUMG00000167876 uc001osa.3 J05013 NM_016725 CCDS8211 P15328 1717147 MGI:95568 RGD:71032 136430 220919 objectId:3212 HGNC:3791 "ENST00000393676.5|NM_016729.3" HGNC:3791 HGNC:3792 FOLR1P1 folate receptor 1 pseudogene 1 pseudogene pseudogene Approved 11q13.4 11q13.4 FOLR1P "folate receptor 1 (adult) pseudogene|folate receptor 1 (adult) pseudogene 1" 1992-04-16 2010-03-12 2016-06-27 2020-04-07 390221 ENSG00000256518 OTTHUMG00000167873 M86438 NG_005088 "1581364|1330883" PGOHUM00000242789 HGNC:3792 @@ -9372,13 +9373,13 @@ HGNC:3793 FOLR2 folate receptor beta protein-coding gene gene with protein produ HGNC:3795 FOLR3 folate receptor gamma protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FR-G|FRγ" "folate receptor 3 (gamma)|folate receptor 3" 1997-09-05 2019-05-08 2023-01-20 2352 ENSG00000110203 OTTHUMG00000167870 uc031xur.2 U08471 NM_000804 CCDS73344 P41439 8110752 MGI:95569 602469 HGNC:3795 "ENST00000611028.3|NM_000804.4" HGNC:38074 FOLR3P1 folate receptor 3 pseudogene 1 pseudogene pseudogene Approved 11q13.4 11q13.4 folate receptor 3 (gamma) pseudogene 1 2010-04-09 2016-06-27 2016-06-27 100288543 NG_022959 PGOHUM00000242790 HGNC:38074 HGNC:3796 FOS Fos proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "c-fos|AP-1" "v-fos FBJ murine osteosarcoma viral oncogene homolog|FBJ murine osteosarcoma viral oncogene homolog" "Basic leucine zipper proteins|Fos transcription factor family" "506|1256" 2001-06-22 2016-05-27 2023-01-20 2353 ENSG00000170345 OTTHUMG00000171774 uc001xrn.4 K00650 NM_005252 CCDS9841 P01100 "16123044|16055710|15926923" MGI:95574 RGD:2626 164810 364789 HGNC:3796 "ENST00000303562.9|NM_005252.4" HGNC:3796 -HGNC:3797 FOSB FosB proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "G0S3|GOSB|GOS3|AP-1|MGC42291|DKFZp686C0818" "oncogene FOS-B|activator protein 1" FBJ murine osteosarcoma viral oncogene homolog B "Basic leucine zipper proteins|Fos transcription factor family" "506|1256" 1992-09-18 2016-05-27 2023-01-20 2354 ENSG00000125740 OTTHUMG00000182122 uc002pbx.5 NM_006732 "CCDS92643|CCDS12664|CCDS46113" P53539 1301997 MGI:95575 RGD:1308198 164772 HGNC:3797 "ENST00000353609.8|NM_006732.3" -HGNC:13718 FOSL1 FOS like 1, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 fra-1 FOS like antigen 1 "Basic leucine zipper proteins|Fos transcription factor family" "506|1256" 2000-12-04 2016-05-27 2023-01-20 8061 ENSG00000175592 OTTHUMG00000166715 uc001ogg.2 BC016648 NM_005438 "CCDS8121|CCDS76436|CCDS76437|CCDS73324" P15407 2107490 MGI:107179 RGD:2627 136515 HGNC:13718 "ENST00000312562.7|NM_005438.5" +HGNC:3797 FOSB FosB proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "G0S3|GOSB|GOS3|AP-1|MGC42291|DKFZp686C0818" "oncogene FOS-B|activator protein 1" FBJ murine osteosarcoma viral oncogene homolog B "Basic leucine zipper proteins|Fos transcription factor family" "506|1256" 1992-09-18 2016-05-27 2023-01-20 2354 ENSG00000125740 OTTHUMG00000182122 uc002pbx.5 NM_006732 "CCDS12664|CCDS46113|CCDS92643" P53539 1301997 MGI:95575 RGD:1308198 164772 HGNC:3797 "ENST00000353609.8|NM_006732.3" +HGNC:13718 FOSL1 FOS like 1, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 fra-1 FOS like antigen 1 "Basic leucine zipper proteins|Fos transcription factor family" "506|1256" 2000-12-04 2016-05-27 2023-01-20 8061 ENSG00000175592 OTTHUMG00000166715 uc001ogg.2 BC016648 NM_005438 "CCDS76436|CCDS76437|CCDS8121|CCDS73324" P15407 2107490 MGI:107179 RGD:2627 136515 HGNC:13718 "ENST00000312562.7|NM_005438.5" HGNC:44055 FOSL1P1 FOSL1 pseudogene 1 pseudogene pseudogene Approved 4q28.2 04q28.2 "FOS like antigen 1 pseudogene 1|FOS like 1, AP-1 transcription factor subunit pseudogene 1" 2012-05-30 2019-01-21 2019-01-21 100419062 ENSG00000248394 OTTHUMG00000161163 NG_025252 PGOHUM00000246070 HGNC:44055 HGNC:3798 FOSL2 FOS like 2, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "FRA2|FLJ23306" FOS like antigen 2 "Basic leucine zipper proteins|Fos transcription factor family" "506|1256" 1996-10-02 2016-05-27 2023-01-20 2355 ENSG00000075426 OTTHUMG00000097832 uc002rma.4 NM_005253 CCDS1766 P15408 MGI:102858 RGD:2628 601575 HGNC:3798 "ENST00000264716.9|NM_005253.4" HGNC:55784 FOSL2-AS1 FOSL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.2 02p23.2 Antisense RNAs 1987 2021-07-28 2021-07-28 403150 ENSG00000229951 NR_103831 HGNC:5021 FOXA1 forkhead box A1 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 HNF3A hepatocyte nuclear factor 3, alpha Forkhead boxes 508 1998-02-11 2002-09-20 2023-01-20 3169 ENSG00000129514 OTTHUMG00000140253 uc001wuf.5 U39840 NM_004496 CCDS9665 P55317 "9119385|8652662" MGI:1347472 RGD:2807 LRG_1415|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1415.xml FOXA1 602294 470346 HGNC:5021 "ENST00000250448.5|NM_004496.5" -HGNC:5022 FOXA2 forkhead box A2 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 HNF3B hepatocyte nuclear factor 3, beta Forkhead boxes 508 1998-02-11 2002-09-20 2023-01-20 3170 ENSG00000125798 OTTHUMG00000191876 uc002wsn.4 AF147787 NM_021784 "CCDS13147|CCDS46585" Q9Y261 "9119385|11875061" MGI:1347476 RGD:2808 600288 470348 HGNC:5022 "ENST00000419308.7|NM_021784.5" HGNC:5022 +HGNC:5022 FOXA2 forkhead box A2 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 HNF3B hepatocyte nuclear factor 3, beta Forkhead boxes 508 1998-02-11 2002-09-20 2023-01-20 3170 ENSG00000125798 OTTHUMG00000191876 uc002wsn.4 AF147787 NM_021784 "CCDS46585|CCDS13147" Q9Y261 "9119385|11875061" MGI:1347476 RGD:2808 600288 470348 HGNC:5022 "ENST00000419308.7|NM_021784.5" HGNC:5022 HGNC:5023 FOXA3 forkhead box A3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 HNF3G hepatocyte nuclear factor 3, gamma Forkhead boxes 508 1998-02-11 2002-09-20 2023-01-20 3171 ENSG00000170608 OTTHUMG00000182484 uc002pdr.3 L12141 NM_004497 CCDS12677 P55318 9119385 MGI:1347477 RGD:2809 602295 470350 HGNC:5023 "ENST00000302177.3|NM_004497.3" HGNC:3799 FOXB1 forkhead box B1 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "HFKH-5|FKH5" Forkhead boxes 508 1999-12-22 2023-01-20 27023 ENSG00000171956 OTTHUMG00000172011 uc002agj.2 AF055080 NM_012182 CCDS32255 Q99853 MGI:1927549 RGD:1305217 619961 HGNC:3799 "ENST00000396057.6|NM_012182.3" HGNC:23315 FOXB2 forkhead box B2 protein-coding gene gene with protein product Approved 9q21.2 09q21.2 bA159H20.4 Forkhead boxes 508 2006-07-04 2023-01-20 442425 ENSG00000204612 OTTHUMG00000020051 uc004ako.1 NM_001013735 CCDS35045 Q5VYV0 MGI:1347468 RGD:1585019 619962 HGNC:23315 "ENST00000376708.1|NM_001013735.1" @@ -9419,10 +9420,10 @@ HGNC:1092 FOXL2 forkhead box L2 protein-coding gene gene with protein product Ap HGNC:34428 FOXL2NB FOXL2 neighbor protein-coding gene gene with protein product Approved 3q22.3 03q22.3 FLJ43329 C3orf72 chromosome 3 open reading frame 72 2008-07-11 2014-05-22 2014-05-22 2023-01-20 401089 ENSG00000206262 OTTHUMG00000159886 AK125319 NM_001040061 CCDS43155 Q6ZUU3 HGNC:34428 "ENST00000383165.4|NM_001040061.3" HGNC:54201 FOXL3 forkhead box L3 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 2019-10-31 2023-01-20 116033993 ENSG00000248767 NM_001374838 CCDS94042 A0A1W2PRP0 MGI:3646467 RGD:1594158 "ENST00000506382.2|NM_001374838.1" HGNC:54640 FOXL3-OT1 FOXL3 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Overlapping transcripts 1988 2019-10-31 2019-10-31 100288524 NR_164665 MGI:3646467 -HGNC:3818 FOXM1 forkhead box M1 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "HFH-11|trident|HNF-3|INS-1|MPP2|MPHOSPH2|TGT3" M-phase phosphoprotein 2 FKHL16 Forkhead boxes 508 1997-07-25 2023-01-20 2305 ENSG00000111206 OTTHUMG00000168118 uc001qlf.4 Y12773 NM_021953 "CCDS8517|CCDS76506|CCDS8516|CCDS8515" Q08050 "9032290|9441747" MGI:1347487 RGD:61807 602341 HGNC:3818 "ENST00000359843.8|NM_021953.4" +HGNC:3818 FOXM1 forkhead box M1 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "HFH-11|trident|HNF-3|INS-1|MPP2|MPHOSPH2|TGT3" M-phase phosphoprotein 2 FKHL16 Forkhead boxes 508 1997-07-25 2023-01-20 2305 ENSG00000111206 OTTHUMG00000168118 uc001qlf.4 Y12773 NM_021953 "CCDS76506|CCDS8515|CCDS8516|CCDS8517" Q08050 "9032290|9441747" MGI:1347487 RGD:61807 602341 HGNC:3818 "ENST00000359843.8|NM_021953.4" HGNC:12765 FOXN1 forkhead box N1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FKHL20 "WHN|RONU" "winged-helix nude|Rowett nude" Forkhead boxes 508 1998-10-07 2003-06-13 2003-06-12 2023-01-20 8456 ENSG00000109101 OTTHUMG00000132603 uc010crm.4 Y11739 NM_001369369 CCDS11232 O15353 9321431 MGI:102949 RGD:3970 "FOXN1base: Mutation registry for T-cell immunodeficiency, congenital alopecia, and nail dystrophy (Previously known as WHNbase)|http://structure.bmc.lu.se/idbase/FOXN1base/|LRG_61|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_61.xml" 600838 183879 objectId:2958 HGNC:12765 "ENST00000579795.6|NM_001369369.1" HGNC:12765 HGNC:5281 FOXN2 forkhead box N2 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 HTLF human T-cell leukemia virus enhancer factor Forkhead boxes 508 1992-02-13 2006-10-02 2006-10-02 2023-01-20 3344 ENSG00000170802 OTTHUMG00000129168 uc002rwh.2 NM_002158 CCDS1838 P32314 1639393 MGI:1347478 RGD:1562291 143089 HGNC:5281 "ENST00000340553.8|NM_002158.4" -HGNC:1928 FOXN3 forkhead box N3 protein-coding gene gene with protein product Approved 14q31.3-q32.11 14q31.3-q32.11 "C14orf116|CHES1" "chromosome 14 open reading frame 116|checkpoint suppressor 1" Forkhead boxes 508 1997-10-16 2007-05-02 2007-05-02 2023-01-20 1112 ENSG00000053254 OTTHUMG00000170898 uc010atk.4 NM_005197 "CCDS32138|CCDS41977" O00409 9154802 MGI:1918625 RGD:1305711 602628 HGNC:1928 "ENST00000557258.6|NM_005197.4" +HGNC:1928 FOXN3 forkhead box N3 protein-coding gene gene with protein product Approved 14q31.3-q32.11 14q31.3-q32.11 "C14orf116|CHES1" "chromosome 14 open reading frame 116|checkpoint suppressor 1" Forkhead boxes 508 1997-10-16 2007-05-02 2007-05-02 2023-01-20 1112 ENSG00000053254 OTTHUMG00000170898 uc010atk.4 NM_005197 "CCDS41977|CCDS32138" O00409 9154802 MGI:1918625 RGD:1305711 602628 HGNC:1928 "ENST00000557258.6|NM_005197.4" HGNC:44290 FOXN3-AS1 FOXN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 FOXN3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-08 2012-08-15 2012-10-12 400236 ENSG00000258920 OTTHUMG00000170973 uc001xxq.3 BC067103 NR_036500 FOXN3-AS1 HGNC:44290 HGNC:30119 FOXN3-AS2 FOXN3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 PRO1768 FOXN3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-08-08 2012-08-15 2012-10-12 29018 ENSG00000259073 OTTHUMG00000170974 uc001xxr.4 NR_024620 FOXN3-AS2 HGNC:30119 HGNC:43882 FOXN3P1 forkhead box N3 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2012-04-17 2017-08-14 643976 ENSG00000176318 OTTHUMG00000022055 NG_022627 PGOHUM00000304787 HGNC:43882 @@ -9432,30 +9433,30 @@ HGNC:3819 FOXO1 forkhead box O1 protein-coding gene gene with protein product Ap HGNC:3820 FOXO1B forkhead box O1B (pseudogene) pseudogene pseudogene Approved 5q35.3 05q35.3 FKHRP1 "forkhead (Drosophila) homolog (rhabdomyosarcoma) pseudogene 1|forkhead box O1B|forkhead box O1B pseudogene" 1998-03-23 2018-10-24 2018-10-24 2311 ENSG00000214295 OTTHUMG00000162117 AF032888 NG_001120 9479491 PGOHUM00000235489 HGNC:3820 HGNC:3821 FOXO3 forkhead box O3 protein-coding gene gene with protein product Approved 6q21 06q21 "AF6q21|FOXO2" "FKHRL1|FOXO3A" Forkhead boxes 508 1998-03-23 2007-05-02 2007-05-02 2023-01-20 2309 ENSG00000118689 OTTHUMG00000015327 uc003psk.3 AF032886 NM_001415139 CCDS5068 O43524 9479491 MGI:1890081 RGD:1309196 FOXO3 602681 HGNC:3821 "ENST00000406360.2|NM_001455.4" HGNC:3822 FOXO3B forkhead box O3B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 FKHRL1P1 "forkhead (Drosophila) homolog (rhabdomyosarcoma) like 1 pseudogene 1|forkhead box O3B pseudogene" 1998-03-23 2009-02-03 2019-01-16 2023-01-20 2310 ENSG00000240445 OTTHUMG00000059047 NM_001368134 CCDS92269 A0A2Z4LIS9 "9479491|29925039" MGI:1890081 PGOHUM00000236954 HGNC:3822 "ENST00000395675.7|NM_001368135.1" -HGNC:7139 FOXO4 forkhead box O4 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 AFX1 MLLT7 "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7" Forkhead boxes 508 1994-12-14 2007-05-02 2007-05-02 2023-01-20 4303 ENSG00000184481 OTTHUMG00000021789 uc004dys.3 NM_005938 "CCDS43969|CCDS55440" P98177 7529552 MGI:1891915 RGD:1561201 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FOXO4 FOXO4 300033 HGNC:7139 "ENST00000374259.8|NM_005938.4" +HGNC:7139 FOXO4 forkhead box O4 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 AFX1 MLLT7 "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7" Forkhead boxes 508 1994-12-14 2007-05-02 2007-05-02 2023-01-20 4303 ENSG00000184481 OTTHUMG00000021789 uc004dys.3 NM_005938 "CCDS55440|CCDS43969" P98177 7529552 MGI:1891915 RGD:1561201 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FOXO4 FOXO4 300033 HGNC:7139 "ENST00000374259.8|NM_005938.4" HGNC:24814 FOXO6 forkhead box O6 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Forkhead boxes 508 2008-04-10 2009-07-23 2020-04-20 100132074 ENSG00000204060 OTTHUMG00000005713 uc057fid.1 NM_001291281 A8MYZ6 12857750 MGI:2676586 RGD:1595858 611457 HGNC:24814 HGNC:41066 FOXO6-AS1 FOXO6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Antisense RNAs 1987 2019-08-02 2019-08-02 101929901 ENSG00000229901 OTTHUMG00000005714 NR_135817 HGNC:41066 -HGNC:3823 FOXP1 forkhead box P1 protein-coding gene gene with protein product Approved 3p13 03p13 "QRF1|12CC4|HSPC215|hFKH1B" "fork head-related protein like B|glutamine-rich factor 1|PAX5/FOXP1 fusion protein" "Forkhead boxes|MicroRNA protein coding host genes" "508|1691" 2000-01-07 2023-01-20 27086 ENSG00000114861 OTTHUMG00000158803 uc003dop.4 AF146696 NM_032682 "CCDS93312|CCDS58838|CCDS93311|CCDS58839|CCDS33785|CCDS74964|CCDS2914|CCDS93310|CCDS74963" Q9H334 "8265594|11751404" MGI:1914004 RGD:1308669 FOXP1 605515 201171 HGNC:3823 "ENST00000649528.3|NM_001349338.3" HGNC:3823 +HGNC:3823 FOXP1 forkhead box P1 protein-coding gene gene with protein product Approved 3p13 03p13 "QRF1|12CC4|HSPC215|hFKH1B" "fork head-related protein like B|glutamine-rich factor 1|PAX5/FOXP1 fusion protein" "Forkhead boxes|MicroRNA protein coding host genes" "508|1691" 2000-01-07 2023-01-20 27086 ENSG00000114861 OTTHUMG00000158803 uc003dop.4 AF146696 NM_032682 "CCDS33785|CCDS2914|CCDS74963|CCDS74964|CCDS93312|CCDS58839|CCDS58838|CCDS93311|CCDS93310" Q9H334 "8265594|11751404" MGI:1914004 RGD:1308669 FOXP1 605515 201171 HGNC:3823 "ENST00000649528.3|NM_001349338.3" HGNC:3823 HGNC:41942 FOXP1-AS1 FOXP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p13 03p13 FOXP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2016-06-10 104502416 ENSG00000244203 OTTHUMG00000158800 uc003dot.4 NR_126463 FOXP1-AS1 HGNC:41942 HGNC:56284 FOXP1-DT FOXP1 divergent transcript non-coding RNA RNA, long non-coding Approved 3p13 03p13 Divergent transcripts 1990 2022-08-19 2022-08-19 126568846 ENSG00000270562 NR_182289 35509980 HGNC:41335 FOXP1-IT1 FOXP1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p13 03p13 FOXP1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100506815 ENSG00000242094 OTTHUMG00000158796 uc003dou.4 FOXP1-IT1 -HGNC:13875 FOXP2 forkhead box P2 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 CAGH44 "trinucleotide repeat containing 10|forkhead/winged-helix transcription factor|speech and language disorder 1|CAG repeat protein 44" "TNRC10|SPCH1" "Forkhead boxes|MicroRNA protein coding host genes" "508|1691" 2000-11-20 2023-01-20 93986 ENSG00000128573 OTTHUMG00000023131 uc064hfd.1 U80741 NM_014491 "CCDS5760|CCDS43635|CCDS55154|CCDS5761" O15409 "11586359|9225980" MGI:2148705 RGD:1559697 605317 212885 HGNC:13875 "ENST00000350908.9|NM_014491.4" HGNC:13875 -HGNC:6106 FOXP3 forkhead box P3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "JM2|XPID|AIID|PIDX|DIETER|SCURFIN" IPEX immune dysregulation, polyendocrinopathy, enteropathy, X-linked Forkhead boxes 508 2000-05-05 2002-09-20 2023-01-20 50943 ENSG00000049768 OTTHUMG00000024135 uc004dnf.4 NM_014009 "CCDS48109|CCDS14323" Q9BZS1 "10677306|11138001" MGI:1891436 RGD:1562112 "FOXP3base: Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX|http://structure.bmc.lu.se/idbase/FOXP3base/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FOXP3|LRG_62|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_62.xml" 300292 121913 HGNC:6106 "ENST00000376207.10|NM_014009.4" HGNC:6106 -HGNC:20842 FOXP4 forkhead box P4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 FLJ40908 "Forkhead boxes|MicroRNA protein coding host genes" "508|1691" 2003-05-28 2023-01-20 116113 ENSG00000137166 OTTHUMG00000014679 uc063okl.1 AB080747 NM_138457 "CCDS34448|CCDS4856|CCDS93916|CCDS34447" Q8IVH2 MGI:1921373 RGD:1311386 608924 HGNC:20842 "ENST00000307972.10|NM_001012426.2" +HGNC:13875 FOXP2 forkhead box P2 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 CAGH44 "trinucleotide repeat containing 10|forkhead/winged-helix transcription factor|speech and language disorder 1|CAG repeat protein 44" "TNRC10|SPCH1" "Forkhead boxes|MicroRNA protein coding host genes" "508|1691" 2000-11-20 2023-01-20 93986 ENSG00000128573 OTTHUMG00000023131 uc064hfd.1 U80741 NM_014491 "CCDS43635|CCDS55154|CCDS5760|CCDS5761" O15409 "11586359|9225980" MGI:2148705 RGD:1559697 605317 212885 HGNC:13875 "ENST00000350908.9|NM_014491.4" HGNC:13875 +HGNC:6106 FOXP3 forkhead box P3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "JM2|XPID|AIID|PIDX|DIETER|SCURFIN" IPEX immune dysregulation, polyendocrinopathy, enteropathy, X-linked Forkhead boxes 508 2000-05-05 2002-09-20 2023-01-20 50943 ENSG00000049768 OTTHUMG00000024135 uc004dnf.4 NM_014009 "CCDS14323|CCDS48109" Q9BZS1 "10677306|11138001" MGI:1891436 RGD:1562112 "FOXP3base: Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX|http://structure.bmc.lu.se/idbase/FOXP3base/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FOXP3|LRG_62|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_62.xml" 300292 121913 HGNC:6106 "ENST00000376207.10|NM_014009.4" HGNC:6106 +HGNC:20842 FOXP4 forkhead box P4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 FLJ40908 "Forkhead boxes|MicroRNA protein coding host genes" "508|1691" 2003-05-28 2023-01-20 116113 ENSG00000137166 OTTHUMG00000014679 uc063okl.1 AB080747 NM_138457 "CCDS34447|CCDS93916|CCDS34448|CCDS4856" Q8IVH2 MGI:1921373 RGD:1311386 608924 HGNC:20842 "ENST00000307972.10|NM_001012426.2" HGNC:50332 FOXP4-AS1 FOXP4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 Antisense RNAs 1987 2014-04-15 2018-07-25 101060264 ENSG00000234753 OTTHUMG00000014680 NR_126415 "27790757|29859193" FOXP4-AS1 HGNC:50332 HGNC:20951 FOXQ1 forkhead box Q1 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 HFH1 Forkhead boxes 508 2003-04-24 2023-01-20 94234 ENSG00000164379 OTTHUMG00000016160 uc003mtl.5 AF153341 NM_033260 CCDS4471 Q9C009 "11747606|12011061" MGI:1298228 RGD:621572 612788 HGNC:20951 "ENST00000296839.5|NM_033260.4" HGNC:29980 FOXR1 forkhead box R1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "DLNB13|FOXN5" Forkhead boxes 508 2004-05-18 2023-01-20 283150 ENSG00000176302 OTTHUMG00000166347 uc001pui.4 AB094092 NM_181721 CCDS31688 Q6PIV2 15067358 MGI:2685961 RGD:1309739 615755 HGNC:29980 "ENST00000317011.8|NM_181721.3" HGNC:30469 FOXR2 forkhead box R2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "MGC21658|FOXN6" Forkhead boxes 508 2004-06-18 2023-01-20 139628 ENSG00000189299 OTTHUMG00000021661 uc004duo.4 BC012934 NM_198451 CCDS35308 Q6PJQ5 "15202009|15202027" MGI:3511682 RGD:1564437 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FOXR2 300949 HGNC:30469 "ENST00000339140.5|NM_198451.4" HGNC:26927 FOXRED1 FAD dependent oxidoreductase domain containing 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 H17 Mitochondrial respiratory chain complex assembly factors 645 2006-02-03 2016-06-08 2023-01-20 55572 ENSG00000110074 OTTHUMG00000165827 uc001qdi.4 NM_017547 CCDS8471 Q96CU9 10497265 MGI:2446262 RGD:1311785 613622 244375 HGNC:26927 "ENST00000263578.10|NM_017547.4" HGNC:26927 -HGNC:26264 FOXRED2 FAD dependent oxidoreductase domain containing 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "FLJ23322|ERFAD" ER flavoprotein associated with degradation FAD-dependent oxidoreductase domain containing 2 2006-07-05 2016-02-02 2023-01-20 80020 ENSG00000100350 OTTHUMG00000044614 uc003app.5 BC027716 NM_024955 "CCDS93159|CCDS13929" Q8IWF2 20972601 MGI:106315 RGD:1306763 613777 HGNC:26264 "ENST00000397224.9|NM_001102371.2" +HGNC:26264 FOXRED2 FAD dependent oxidoreductase domain containing 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "FLJ23322|ERFAD" ER flavoprotein associated with degradation FAD-dependent oxidoreductase domain containing 2 2006-07-05 2016-02-02 2023-01-20 80020 ENSG00000100350 OTTHUMG00000044614 uc003app.5 BC027716 NM_024955 "CCDS13929|CCDS93159" Q8IWF2 20972601 MGI:106315 RGD:1306763 613777 HGNC:26264 "ENST00000397224.9|NM_001102371.2" HGNC:3735 FOXS1 forkhead box S1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 FREAC10 FKHL18 "forkhead (Drosophila)-like 18|forkhead-like 18 (Drosophila)" Forkhead boxes 508 1997-08-18 2008-04-10 2008-04-10 2023-01-20 2307 ENSG00000179772 OTTHUMG00000032183 uc002wwt.2 AF042831 NM_004118 CCDS13192 O43638 "9325056|17062144" MGI:95546 RGD:1310679 602939 HGNC:3735 "ENST00000375978.5|NM_004118.4" HGNC:56688 FPASL fibroblast proliferation associated lncRNA non-coding RNA RNA, long non-coding Approved 7q11.23 07q11.23 fibroblast proliferation-associated LncRNA Long non-coding RNAs with non-systematic symbols 1992 2023-01-11 2023-01-11 128266845 ENSG00000289059 "36082934|36514215" -HGNC:3824 FPGS folylpolyglutamate synthase protein-coding gene gene with protein product Approved 9q34.11 09q34.11 2001-06-22 2023-01-20 2356 ENSG00000136877 OTTHUMG00000020716 uc004bsg.3 NM_001018078 "CCDS75905|CCDS35149|CCDS35148" Q05932 MGI:95576 RGD:1587713 136510 470352 6.3.2.17 HGNC:3824 "ENST00000373247.7|NM_004957.6" -HGNC:3825 FPGT fucose-1-phosphate guanylyltransferase protein-coding gene gene with protein product Approved 1p31.1 01p31.1 GFPP 1998-12-02 2023-01-20 8790 ENSG00000254685 OTTHUMG00000009571 uc001dgb.4 AF017445 NM_001199328 "CCDS55607|CCDS663|CCDS55606" O14772 9804772 MGI:1922790 RGD:735121 603609 2.7.7.30 HGNC:3825 "ENST00000370898.9|NM_003838.5" +HGNC:3824 FPGS folylpolyglutamate synthase protein-coding gene gene with protein product Approved 9q34.11 09q34.11 2001-06-22 2023-01-20 2356 ENSG00000136877 OTTHUMG00000020716 uc004bsg.3 NM_001018078 "CCDS35149|CCDS35148|CCDS75905" Q05932 MGI:95576 RGD:1587713 136510 470352 6.3.2.17 HGNC:3824 "ENST00000373247.7|NM_004957.6" +HGNC:3825 FPGT fucose-1-phosphate guanylyltransferase protein-coding gene gene with protein product Approved 1p31.1 01p31.1 GFPP 1998-12-02 2023-01-20 8790 ENSG00000254685 OTTHUMG00000009571 uc001dgb.4 AF017445 NM_001199328 "CCDS55607|CCDS55606|CCDS663" O14772 9804772 MGI:1922790 RGD:735121 603609 2.7.7.30 HGNC:3825 "ENST00000370898.9|NM_003838.5" HGNC:42952 FPGT-TNNI3K FPGT-TNNI3K readthrough other readthrough Approved 1p31.1 01p31.1 Ankyrin repeat domain containing 403 2011-09-23 2023-03-15 100526835 ENSG00000259030 OTTHUMG00000166281 uc001dge.4 NM_001112808 MGI:2443276 HGNC:42952 HGNC:3826 FPR1 formyl peptide receptor 1 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "FPR|FMLP" Formyl peptide receptors 198 1991-06-05 2023-01-20 2357 ENSG00000171051 OTTHUMG00000183500 uc002pxq.4 M60627 NM_002029 CCDS12839 P21462 "2161213|12595898" MGI:107443 RGD:1310883 LRG_146|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_146.xml 136537 457447 objectId:222 HGNC:3826 "ENST00000304748.5|NM_002029.4" HGNC:3826 HGNC:3827 FPR2 formyl peptide receptor 2 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "LXA4R|HM63|FPRH2|FMLPX|FPR2A|FMLP-R-II|ALXR|ALX" FPRL1 formyl peptide receptor-like 1 "Formyl peptide receptors|Leukotriene receptors" "198|204" 1991-06-05 2008-04-17 2008-04-17 2023-01-20 2358 ENSG00000171049 OTTHUMG00000183501 uc061byv.1 M88107 NM_001005738 CCDS12840 P25090 9054386 MGI:1278319 RGD:1584013 136538 objectId:223 HGNC:3827 "ENST00000340023.7|NM_001005738.2" -HGNC:3828 FPR3 formyl peptide receptor 3 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "FPRH1|FMLPY|RMLP-R-I" FPRL2 formyl peptide receptor-like 2 Formyl peptide receptors 198 1991-12-04 2008-04-17 2008-04-17 2023-01-20 2359 ENSG00000187474 OTTHUMG00000183502 uc002pxt.2 NM_002030 CCDS12841 P25089 "1612600|8198572" MGI:1194495 136539 objectId:224 HGNC:3828 "ENST00000339223.5|NM_002030.5" +HGNC:3828 FPR3 formyl peptide receptor 3 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "FPRH1|FMLPY|RMLP-R-I" FPRL2 formyl peptide receptor-like 2 Formyl peptide receptors 198 1991-12-04 2008-04-17 2008-04-17 2023-01-20 2359 ENSG00000187474 OTTHUMG00000183502 uc002pxt.2 NM_002030 CCDS12841 P25089 "1612600|8198572" MGI:1194495 RGD:1566044 136539 objectId:224 HGNC:3828 "ENST00000339223.5|NM_002030.5" HGNC:3868 FRA1A fragile site, aphidicolin type, common, fra(1)(p36) other fragile site Approved 1p36 01p36 2001-06-22 2012-10-02 2360 HGNC:3869 FRA1B fragile site, aphidicolin type, common, fra(1)(p32) other fragile site Approved 1p32 01p32 2001-06-22 2012-10-02 2361 HGNC:3870 FRA1C fragile site, aphidicolin type, common, fra(1)(p31.2) other fragile site Approved 1p31.2 01p31.2 2001-06-22 2012-10-02 2362 @@ -9568,7 +9569,7 @@ HGNC:3881 FRA20A fragile site, folic acid type, rare, fra(20)(p11.23) other frag HGNC:3882 FRA20B fragile site, aphidicolin type, common, fra(20)(p12.2) other fragile site Approved 20p12.2 20p12.2 2001-06-22 2012-10-02 2472 HGNC:3883 FRA22A fragile site, folic acid type, rare, fra(22)(q13) other fragile site Approved 22q13 22q13 2001-06-22 2012-10-02 2473 HGNC:3884 FRA22B fragile site, aphidicolin type, common, fra(22)(q12.2) other fragile site Approved 22q12.2 22q12.2 2001-06-22 2012-10-02 2474 -HGNC:19185 FRAS1 Fraser extracellular matrix complex subunit 1 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "FLJ22031|FLJ14927|KIAA1500" Fraser syndrome 1 2003-02-25 2014-06-25 2023-01-20 80144 ENSG00000138759 OTTHUMG00000160856 uc003hlb.2 AB040933 NM_001166133 "CCDS54772|CCDS54771" Q86XX4 "12766769|3118036" MGI:2385368 RGD:1306516 607830 121922 HGNC:19185 "ENST00000512123.4|NM_025074.7" HGNC:19185 +HGNC:19185 FRAS1 Fraser extracellular matrix complex subunit 1 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "FLJ22031|FLJ14927|KIAA1500" Fraser syndrome 1 2003-02-25 2014-06-25 2023-01-20 80144 ENSG00000138759 OTTHUMG00000160856 uc003hlb.2 AB040933 NM_001166133 "CCDS54771|CCDS54772" Q86XX4 "12766769|3118036" MGI:2385368 RGD:1306516 607830 121922 HGNC:19185 "ENST00000512123.4|NM_025074.7" HGNC:19185 HGNC:3944 FRAT1 FRAT regulator of WNT signaling pathway 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "frequently rearranged in advanced T-cell lymphomas|frequently rearranged in advanced T-cell lymphomas 1|FRAT1, WNT signaling pathway regulator" 2000-04-13 2019-01-25 2023-01-20 10023 ENSG00000165879 OTTHUMG00000018848 uc001knc.2 U58975 NM_005479 CCDS7455 Q92837 9034327 MGI:109450 RGD:9147096 602503 HGNC:3944 "ENST00000371021.5|NM_005479.4" HGNC:16048 FRAT2 FRAT regulator of WNT signaling pathway 2 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 GSK-3 binding protein FRAT2 "frequently rearranged in advanced T-cell lymphomas 2|FRAT2, WNT signaling pathway regulator" 2001-07-06 2019-01-25 2023-01-20 23401 ENSG00000181274 OTTHUMG00000018850 uc001knd.2 AF062739 NM_012083 CCDS7456 O75474 "9635432|11237732" MGI:2673967 RGD:1591882 605006 HGNC:16048 "ENST00000371019.4|NM_012083.3" HGNC:3945 FRAXA fragile site, folic acid type, rare, fra(X)(q27.3) A other fragile site Approved Xq27.3 Xq27.3 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 1986-01-01 2022-03-23 2022-03-23 108684022 NG_051583 @@ -9592,9 +9593,9 @@ HGNC:51766 FRG1GP FSHD region gene 1 family member G, pseudogene pseudogene pseu HGNC:51767 FRG1HP FSHD region gene 1 family member H, pseudogene pseudogene pseudogene Approved 9p11.2 09p11.2 2015-07-13 2015-07-13 100132352 ENSG00000276291 OTTHUMG00000188611 NR_034006 PGOHUM00000304207 HGNC:51767 HGNC:51768 FRG1JP FSHD region gene 1 family member J, pseudogene pseudogene pseudogene Approved 9q13 09q13 2015-07-13 2023-05-09 642236 ENSG00000215548 OTTHUMG00000058676 NR_033907 PGOHUM00000303876 HGNC:51768 HGNC:51769 FRG1KP FSHD region gene 1 family member K, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 2015-07-13 2023-05-09 102724923 ENSG00000280286 OTTHUMG00000189283 PGOHUM00000303902 HGNC:51769 -HGNC:19136 FRG2 FSHD region gene 2 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 FRG2A 2007-10-11 2023-01-20 448831 ENSG00000205097 OTTHUMG00000160339 uc003izv.4 NM_001005217 "CCDS68834|CCDS34123" Q64ET8 "12176321|15520407" "MGI:3035485|MGI:3643939|MGI:3643940|MGI:3644083|MGI:3647962|MGI:3647970|MGI:3648177|MGI:3648470|MGI:3779574|MGI:3779576|MGI:3782845|MGI:3782846|MGI:3805017" RGD:1592623 609032 HGNC:19136 "ENST00000504750.6|NM_001286820.2" +HGNC:19136 FRG2 FSHD region gene 2 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 FRG2A 2007-10-11 2023-01-20 448831 ENSG00000205097 OTTHUMG00000160339 uc003izv.4 NM_001005217 "CCDS34123|CCDS68834" Q64ET8 "12176321|15520407" "MGI:3035485|MGI:3643939|MGI:3643940|MGI:3644083|MGI:3647962|MGI:3647970|MGI:3648177|MGI:3648470|MGI:3779574|MGI:3779576|MGI:3782845|MGI:3782846|MGI:3805017" RGD:1592623 609032 HGNC:19136 "ENST00000504750.6|NM_001286820.2" HGNC:33518 FRG2B FSHD region gene 2 family member B protein-coding gene gene with protein product Approved 10q26.3 10q26.3 FSHD region gene 2 family, member B 2007-10-11 2015-11-18 2023-01-20 441581 ENSG00000225899 OTTHUMG00000019328 uc010qvg.2 AY744466 NM_001080998 CCDS44502 Q96QU4 15520407 "MGI:3035485|MGI:3643939|MGI:3643940|MGI:3644083|MGI:3647962|MGI:3647970|MGI:3648177|MGI:3648470|MGI:3779574|MGI:3779576|MGI:3782845|MGI:3782846|MGI:3805017" HGNC:33518 "ENST00000425520.2|NM_001080998.2" -HGNC:33626 FRG2C FSHD region gene 2 family member C protein-coding gene gene with protein product Approved 3p12.3 03p12.3 FSHD region gene 2 family, member C 2007-10-11 2015-11-18 2023-01-20 100288801 ENSG00000172969 OTTHUMG00000158963 uc003dpt.6 NM_001124759.1 "CCDS43108|CCDS93313" A6NGY1 MGI:3035485 HGNC:33626 "ENST00000308062.8|NM_001124759.5" +HGNC:33626 FRG2C FSHD region gene 2 family member C protein-coding gene gene with protein product Approved 3p12.3 03p12.3 FSHD region gene 2 family, member C 2007-10-11 2015-11-18 2023-01-20 100288801 ENSG00000172969 OTTHUMG00000158963 uc003dpt.6 NM_001124759.1 "CCDS93313|CCDS43108" A6NGY1 MGI:3035485 HGNC:33626 "ENST00000308062.8|NM_001124759.5" HGNC:27093 FRG2DP FSHD region gene 2 family member D, pseudogene pseudogene pseudogene Approved 16p11.1 16p11.1 FSHD region gene 2 family, member D, pseudogene 2014-10-16 2015-11-18 2015-11-18 146481 ENSG00000261711 OTTHUMG00000176004 NR_026980 12477932 PGOHUM00000293582 HGNC:27093 HGNC:51365 FRG2EP FSHD region gene 2 family member E, pseudogene pseudogene pseudogene Approved 20q11.1 20q11.1 FSHD region gene 2 family, member E, pseudogene 2014-10-16 2015-11-18 2020-01-06 647476 ENSG00000282842 OTTHUMG00000191524 NR_037925 PGOHUM00000296943 HGNC:51365 HGNC:51366 FRG2FP FSHD region gene 2 family member F, pseudogene pseudogene pseudogene Approved 3q29 03q29 TCONS_l2_00020053 FSHD region gene 2 family, member F, pseudogene 2014-10-16 2015-11-18 2015-11-18 100128827 ENSG00000232783 OTTHUMG00000155373 NG_030115 PGOHUM00000299715 HGNC:51366 @@ -9607,8 +9608,8 @@ HGNC:51798 FRG2LP FSHD region gene 2 family member L, pseudogene pseudogene pseu HGNC:51799 FRG2MP FSHD region gene 2 family member M, pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 2015-06-09 2015-06-09 106481739 ENSG00000275170 OTTHUMG00000187953 NG_043527 PGOHUM00000297219 HGNC:51799 HGNC:51844 FRGCA FOXM1-regulated, gastric cancer associated non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 LncRNA-AP001631.9 Long non-coding RNAs with non-systematic symbols 1992 2015-08-26 2018-07-25 106481742 ENSG00000236663 OTTHUMG00000086845 NR_133677 26261500 FRGCA HGNC:51844 HGNC:3955 FRK fyn related Src family tyrosine kinase protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "RAK|GTK" PTK5 "PTK5 protein tyrosine kinase 5|fyn-related kinase|fyn-related Src family tyrosine kinase" "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1995-02-08 2016-03-14 2023-01-20 2444 ENSG00000111816 OTTHUMG00000015424 uc003pwi.2 U00803 NM_002031 CCDS5103 P42685 7510261 MGI:103265 RGD:621423 606573 objectId:2025 2.7.10.1 HGNC:3955 "ENST00000606080.2|NM_002031.3" -HGNC:21240 FRMD1 FERM domain containing 1 protein-coding gene gene with protein product Approved 6q27 06q27 "FLJ00181|DKFZp434O0117|FLJ40260|FLJ22615|bA164L23.1" FERM domain containing 1293 2003-05-29 2023-01-20 79981 ENSG00000153303 OTTHUMG00000016037 uc003qwo.5 NM_024919 "CCDS94036|CCDS47518|CCDS5306" Q8N878 RGD:1588779 HGNC:21240 "ENST00000283309.11|NM_024919.6" -HGNC:24125 FRMD3 FERM domain containing 3 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "EPB41L4O|MGC20553" FERM domain containing 1293 2004-01-27 2023-01-20 257019 ENSG00000172159 OTTHUMG00000020103 uc004ams.3 AK094281 NM_174938 "CCDS75852|CCDS59133|CCDS43840|CCDS59131|CCDS59132" A2A2Y4 12601556 MGI:2442466 RGD:1304802 607619 HGNC:24125 "ENST00000304195.8|NM_174938.6" +HGNC:21240 FRMD1 FERM domain containing 1 protein-coding gene gene with protein product Approved 6q27 06q27 "FLJ00181|DKFZp434O0117|FLJ40260|FLJ22615|bA164L23.1" FERM domain containing 1293 2003-05-29 2023-01-20 79981 ENSG00000153303 OTTHUMG00000016037 uc003qwo.5 NM_024919 "CCDS47518|CCDS5306|CCDS94036" Q8N878 RGD:1588779 HGNC:21240 "ENST00000283309.11|NM_024919.6" +HGNC:24125 FRMD3 FERM domain containing 3 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "EPB41L4O|MGC20553" FERM domain containing 1293 2004-01-27 2023-01-20 257019 ENSG00000172159 OTTHUMG00000020103 uc004ams.3 AK094281 NM_174938 "CCDS43840|CCDS75852|CCDS59132|CCDS59133|CCDS59131" A2A2Y4 12601556 MGI:2442466 RGD:1304802 607619 HGNC:24125 "ENST00000304195.8|NM_174938.6" HGNC:55790 FRMD3-AS1 FRMD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.32 09q21.32 Antisense RNAs 1987 2021-07-28 2021-07-28 102723989 ENSG00000229109 NR_184120 HGNC:25491 FRMD4A FERM domain containing 4A protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ10210|KIAA1294|bA295P9.4" FRMD4 FERM domain containing 4 FERM domain containing 1293 2004-02-05 2004-07-15 2004-07-15 2023-01-20 55691 ENSG00000151474 OTTHUMG00000017708 uc001ims.4 AB037715 NM_018027 CCDS7101 Q9P2Q2 10718198 MGI:1919850 RGD:1309050 616305 477056 HGNC:25491 "ENST00000357447.7|NM_018027.5" HGNC:25491 HGNC:56672 FRMD4A-AS1 FRMD4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p13 10p13 AL157392.2 Antisense RNAs 1987 2022-12-21 2022-12-21 128193287 ENSG00000234091 36344648 @@ -9617,21 +9618,21 @@ HGNC:28214 FRMD5 FERM domain containing 5 protein-coding gene gene with protein HGNC:19839 FRMD6 FERM domain containing 6 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "MGC17921|willin|EX1" expanded homolog C14orf31 chromosome 14 open reading frame 31 FERM domain containing 1293 2002-11-27 2005-07-20 2005-07-20 2023-01-20 122786 ENSG00000139926 OTTHUMG00000140294 uc001wzb.5 BI465118 NM_152330 "CCDS9704|CCDS58318|CCDS58319" Q96NE9 MGI:2442579 RGD:727810 614555 HGNC:19839 "ENST00000344768.10|NM_001267046.2" HGNC:20129 FRMD6-AS1 FRMD6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q22.1 14q22.1 C14orf82 "chromosome 14 open reading frame 82|FRMD6 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2002-12-18 2011-12-07 2012-08-15 2016-10-05 145438 ENSG00000273888 OTTHUMG00000186832 uc021rtc.2 NR_037676 P0C7T7 FRMD6-AS1 HGNC:20129 HGNC:43637 FRMD6-AS2 FRMD6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 14q22.1 14q22.1 FRMD6 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-12-07 2012-08-15 2021-01-15 100874185 ENSG00000258537 OTTHUMG00000171076 uc031qon.1 NR_047477 31917993 FRMD6-AS2 HGNC:43637 -HGNC:8079 FRMD7 FERM domain containing 7 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 FLJ43346 "NYS|NYS1" nystagmus 1, congenital FERM domain containing 1293 2001-06-22 2006-09-01 2006-09-01 2023-01-20 90167 ENSG00000165694 OTTHUMG00000022421 uc004ewn.4 AL161984 NM_194277 "CCDS35397|CCDS78504" Q6ZUT3 "2063919|17013395" MGI:2686379 RGD:1562057 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FRMD7|LRG_867|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_867.xml" 300628 121933 HGNC:8079 "ENST00000298542.9|NM_194277.3" HGNC:8079 -HGNC:25462 FRMD8 FERM domain containing 8 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FLJ90369|FKSG44|iTAP" iRhom Tail-Associated Protein FERM domain containing 1293 2007-08-14 2023-01-20 83786 ENSG00000126391 OTTHUMG00000166275 uc001odu.5 AK074850 NM_031904 "CCDS76432|CCDS73320|CCDS8102" Q9BZ67 29897336 MGI:1914707 RGD:1310323 618337 HGNC:25462 "ENST00000317568.10|NM_031904.5" +HGNC:8079 FRMD7 FERM domain containing 7 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 FLJ43346 "NYS|NYS1" nystagmus 1, congenital FERM domain containing 1293 2001-06-22 2006-09-01 2006-09-01 2023-01-20 90167 ENSG00000165694 OTTHUMG00000022421 uc004ewn.4 AL161984 NM_194277 "CCDS78504|CCDS35397" Q6ZUT3 "2063919|17013395" MGI:2686379 RGD:1562057 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FRMD7|LRG_867|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_867.xml" 300628 121933 HGNC:8079 "ENST00000298542.9|NM_194277.3" HGNC:8079 +HGNC:25462 FRMD8 FERM domain containing 8 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FLJ90369|FKSG44|iTAP" iRhom Tail-Associated Protein FERM domain containing 1293 2007-08-14 2023-01-20 83786 ENSG00000126391 OTTHUMG00000166275 uc001odu.5 AK074850 NM_031904 "CCDS76432|CCDS8102|CCDS73320" Q9BZ67 29897336 MGI:1914707 RGD:1310323 618337 HGNC:25462 "ENST00000317568.10|NM_031904.5" HGNC:24690 FRMD8P1 FERM domain containing 8 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 FKSG43 2011-12-01 2021-10-07 83957 ENSG00000227942 OTTHUMG00000021721 NR_033742 Q9BZ68 MGI:1914707 PGOHUM00000241357 HGNC:24690 HGNC:29159 FRMPD1 FERM and PDZ domain containing 1 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "KIAA0967|FRMD2" "PDZ domain containing|FERM domain containing" "1220|1293" 2004-01-05 2023-01-20 22844 ENSG00000070601 OTTHUMG00000019927 uc004aag.2 AB023184 NM_014907 CCDS6612 Q5SYB0 10231032 MGI:2446274 RGD:1305229 616919 HGNC:29159 "ENST00000377765.8|NM_014907.3" -HGNC:28572 FRMPD2 FERM and PDZ domain containing 2 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 MGC35285 "PDZD5C|PDZK5C" PDZ domain containing 5C "PDZ domain containing|FERM domain containing" "1220|1293" 2004-04-15 2023-03-15 143162 ENSG00000170324 OTTHUMG00000018171 uc001jgi.5 AK123038 NM_152428 "CCDS31195|CCDS81460" Q68DX3 MGI:2685472 RGD:1565652 613323 HGNC:28572 "ENST00000374201.8|NM_001018071.4" +HGNC:28572 FRMPD2 FERM and PDZ domain containing 2 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 MGC35285 "PDZD5C|PDZK5C" PDZ domain containing 5C "PDZ domain containing|FERM domain containing" "1220|1293" 2004-04-15 2023-03-15 143162 ENSG00000170324 OTTHUMG00000018171 uc001jgi.5 AK123038 NM_152428 "CCDS81460|CCDS31195" Q68DX3 MGI:2685472 RGD:1565652 613323 HGNC:28572 "ENST00000374201.8|NM_001018071.4" HGNC:16843 FRMPD2B FERM and PDZ domain containing 2B, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 "yX59F3.2|bA556L1.2" "PDZK5A|PDZD5A|FRMPD2L1|FRMPD2P2|PDZK5B|PDZD5B|FRMPD2L2|FRMPD2P1" "PDZ domain containing 5A|FERM and PDZ domain containing 2 like 1|FERM and PDZ domain containing 2 pseudogene 2|PDZ domain containing 5B|FERM and PDZ domain containing 2 like 2|FERM and PDZ domain containing 2 pseudogene 1" PDZ domain containing 1220 2004-07-09 2014-07-15 2014-07-15 2023-03-15 728798 ENSG00000150175 OTTHUMG00000018093 NR_033172 Q6IN97 PGOHUM00000290148 HGNC:16843 HGNC:29382 FRMPD3 FERM and PDZ domain containing 3 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "RP5-1070B1.1|KIAA1817" "PDZ domain containing|FERM domain containing" "1220|1293" 2006-02-09 2023-03-15 84443 ENSG00000147234 OTTHUMG00000022165 uc033eqj.1 AB058720 NM_032428 "CCDS94646|CCDS94647" Q5JV73 11347906 MGI:3646547 RGD:1563753 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FRMPD3 301005 HGNC:29382 "ENST00000683843.1|NM_001388459.1" HGNC:41239 FRMPD3-AS1 FRMPD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.3 Xq22.3 FRMPD3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874122 ENSG00000227610 OTTHUMG00000022164 uc033eqi.2 NR_046750 FRMPD3-AS1 HGNC:41239 -HGNC:29007 FRMPD4 FERM and PDZ domain containing 4 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 KIAA0316 "PDZK10|PDZD10" PDZ domain containing 10 "PDZ domain containing|FERM domain containing" "1220|1293" 2004-06-14 2006-02-09 2006-02-09 2023-01-20 9758 ENSG00000169933 OTTHUMG00000021138 uc004cuz.2 AB002314 NM_014728 "CCDS94552|CCDS94550|CCDS35201|CCDS94551" Q14CM0 9205841 MGI:3042378 RGD:1566031 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FRMPD4 300838 468801 HGNC:29007 "ENST00000675598.1|NM_001368397.1" HGNC:29007 +HGNC:29007 FRMPD4 FERM and PDZ domain containing 4 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 KIAA0316 "PDZK10|PDZD10" PDZ domain containing 10 "PDZ domain containing|FERM domain containing" "1220|1293" 2004-06-14 2006-02-09 2006-02-09 2023-01-20 9758 ENSG00000169933 OTTHUMG00000021138 uc004cuz.2 AB002314 NM_014728 "CCDS94552|CCDS35201|CCDS94551|CCDS94550" Q14CM0 9205841 MGI:3042378 RGD:1566031 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FRMPD4 300838 468801 HGNC:29007 "ENST00000675598.1|NM_001368397.1" HGNC:29007 HGNC:41222 FRMPD4-AS1 FRMPD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 FRMPD4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874121 ENSG00000223487 OTTHUMG00000021135 uc064xzq.1 NR_046743 FRMPD4-AS1 HGNC:27622 FRRS1 ferric chelate reductase 1 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 SDR2 SDFR2 "stromal cell derived factor receptor 2 homolog (mouse)|ferric-chelate reductase 1" 2005-08-01 2006-02-22 2016-01-21 2023-01-20 391059 ENSG00000156869 OTTHUMG00000010768 uc001dsh.1 AK131302 NM_001013660 "CCDS30780|CCDS91007" Q6ZNA5 MGI:108076 RGD:1306883 611578 HGNC:27622 "ENST00000646001.2|NM_001361041.2" HGNC:1362 FRRS1L ferric chelate reductase 1 like protein-coding gene gene with protein product Approved 9q31.3 09q31.3 CG-6 C9orf4 "chromosome 9 open reading frame 4|ferric-chelate reductase 1-like" 1999-01-28 2012-03-06 2016-01-21 2023-01-20 23732 ENSG00000260230 OTTHUMG00000020468 uc004bdv.4 AF155065 NM_014334 CCDS35098 Q9P0K9 10603000 MGI:2442704 RGD:1309978 604574 HGNC:1362 "ENST00000561981.5|NM_014334.4" HGNC:1362 HGNC:16971 FRS2 fibroblast growth factor receptor substrate 2 protein-coding gene gene with protein product Approved 12q15 12q15 "SNT-1|FRS2alpha|SNT1|FRS2A" 2003-05-23 2023-01-20 10818 ENSG00000166225 OTTHUMG00000169373 uc009zrk.5 AF036717 NM_006654 CCDS41809 Q8WU20 "8761293|9660748" MGI:1100860 RGD:1308201 607743 HGNC:16971 "ENST00000549921.6|NM_001278356.2" HGNC:16970 FRS3 fibroblast growth factor receptor substrate 3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "SNT-2|FRS2beta|FRS2B" 2003-05-23 2023-01-20 10817 ENSG00000137218 OTTHUMG00000014686 uc003orc.3 AF036718 NM_006653 CCDS4860 O43559 "8761293|9660748" MGI:2135965 RGD:1310226 607744 HGNC:16970 "ENST00000373018.7|NM_006653.5" -HGNC:20367 FRY FRY microtubule binding protein protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "bA37E23.1|13CDNA73|CG003" C13orf14 "chromosome 13 open reading frame 14|furry homolog (Drosophila)" Armadillo like helical domain containing 1492 2004-04-16 2005-11-24 2015-11-13 2023-01-20 10129 ENSG00000073910 OTTHUMG00000016696 uc001utx.4 AL049784 NM_023037 "CCDS41875|CCDS91795" Q5TBA9 "8812419|14702039|23886946" MGI:2443895 RGD:1307034 614818 HGNC:20367 "ENST00000542859.6|NM_023037.3" +HGNC:20367 FRY FRY microtubule binding protein protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "bA37E23.1|13CDNA73|CG003" C13orf14 "chromosome 13 open reading frame 14|furry homolog (Drosophila)" Armadillo like helical domain containing 1492 2004-04-16 2005-11-24 2015-11-13 2023-01-20 10129 ENSG00000073910 OTTHUMG00000016696 uc001utx.4 AL049784 NM_023037 "CCDS91795|CCDS41875" Q5TBA9 "8812419|14702039|23886946" MGI:2443895 RGD:1307034 614818 HGNC:20367 "ENST00000542859.6|NM_023037.3" HGNC:39725 FRY-AS1 FRY antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 FRY antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-24 2012-08-15 2014-11-19 100507099 ENSG00000237637 OTTHUMG00000016692 uc001utw.5 BC035084 NR_103839 FRY-AS1 HGNC:39725 HGNC:29127 FRYL FRY like transcription coactivator protein-coding gene gene with protein product Approved 4p11 04p11 "DKFZp686E205|AF4p12|MOR2" mor2 cell polarity protein homolog (S. pombe) KIAA0826 "KIAA0826|furry homolog-like (Drosophila)|FRY like" Armadillo like helical domain containing 1492 2004-09-15 2005-11-24 2015-11-13 2023-01-20 285527 ENSG00000075539 OTTHUMG00000160608 uc003gyh.1 AL833170 NM_015030 CCDS43227 O94915 "10048485|23022380" MGI:1919563 RGD:1311309 HGNC:29127 "ENST00000358350.9|NM_015030.2" HGNC:3959 FRZB frizzled related protein protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "FRZB-PEN|FRZB1|SRFP3|FRP-3|SFRP3|FRE|FRITZ|FRZB-1|FZRB|hFIZ" secreted frizzled-related protein 3 Secreted frizzled-related proteins 733 1998-07-15 2017-10-24 2023-01-20 2487 ENSG00000162998 OTTHUMG00000132597 uc002upa.4 U24163 NM_001463 CCDS2286 Q92765 "8824257|9118218" MGI:892032 RGD:1311315 605083 ligandId:3693 HGNC:3959 "ENST00000295113.5|NM_001463.4" @@ -9639,10 +9640,10 @@ HGNC:43653 FSBP fibrinogen silencer binding protein protein-coding gene gene wit HGNC:20494 FSCB fibrous sheath CABYR binding protein protein-coding gene gene with protein product Approved 14q21.2 14q21.2 DKFZP434F1017 C14orf155 chromosome 14 open reading frame 155 2004-06-11 2007-11-22 2007-11-22 2023-01-20 84075 ENSG00000189139 OTTHUMG00000140262 uc001wvn.4 AK124110 NM_032135 CCDS9679 Q5H9T9 17855365 MGI:3646964 RGD:1561721 611779 HGNC:20494 "ENST00000340446.5|NM_032135.4" HGNC:20494 HGNC:11148 FSCN1 fascin actin-bundling protein 1 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "p55|FLJ38511" "Singed, drosophila, homolog-like|actin bundling protein" SNL "singed (Drosophila)-like (sea urchin fascin homolog like)|fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)" Fascin family 3 1995-01-16 2002-09-20 2014-02-03 2023-01-20 6624 ENSG00000075618 OTTHUMG00000090599 uc003sou.4 U03057 NM_003088 CCDS5342 Q16658 "8068206|10783262" MGI:1352745 RGD:1583309 602689 HGNC:11148 "ENST00000382361.8|NM_003088.4" HGNC:49669 FSCN1P1 fascin actin-bundling protein 1 pseudogene 1 pseudogene pseudogene Approved 15q14 15q14 2014-02-03 2014-02-03 145989 ENSG00000261559 OTTHUMG00000173389 NG_002332 PGOHUM00000258955 HGNC:49669 -HGNC:3960 FSCN2 fascin actin-bundling protein 2, retinal protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "RP30|RFSN" retinal fascin "fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)|fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)" Fascin family 3 2000-02-29 2014-02-03 2023-01-20 25794 ENSG00000186765 OTTHUMG00000167477 uc010wup.3 AF030165 NM_012418 "CCDS45810|CCDS45811" O14926 10234509 MGI:2443337 RGD:1308941 Mutations of the Fascin Gene|http://www.retina-international.org/files/sci-news/fscn2mut.htm 607643 121938 HGNC:3960 "ENST00000417245.7|NM_012418.4" HGNC:3960 +HGNC:3960 FSCN2 fascin actin-bundling protein 2, retinal protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "RP30|RFSN" retinal fascin "fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)|fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)" Fascin family 3 2000-02-29 2014-02-03 2023-01-20 25794 ENSG00000186765 OTTHUMG00000167477 uc010wup.3 AF030165 NM_012418 "CCDS45811|CCDS45810" O14926 10234509 MGI:2443337 RGD:1308941 Mutations of the Fascin Gene|http://www.retina-international.org/files/sci-news/fscn2mut.htm 607643 121938 HGNC:3960 "ENST00000417245.7|NM_012418.4" HGNC:3960 HGNC:3961 FSCN3 fascin actin-bundling protein 3 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)|fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)|fascin actin-bundling protein 3, testicular" Fascin family 3 2000-02-29 2015-11-26 2023-01-20 29999 ENSG00000106328 OTTHUMG00000022935 uc003vmd.3 NM_020369 CCDS34746 Q9NQT6 11925108 MGI:1890386 RGD:1303047 615800 HGNC:3961 "ENST00000265825.6|NM_020369.3" -HGNC:13745 FSD1 fibronectin type III and SPRY domain containing 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC3213|MIR1" fibronectin type 3 and SPRY domain containing 1 Fibronectin type III domain containing 555 2003-11-10 2005-03-01 2023-01-20 79187 ENSG00000105255 OTTHUMG00000181881 uc002lzy.3 AF316829 NM_024333 "CCDS82277|CCDS12127" Q9BTV5 11267680 MGI:1934858 RGD:1583850 609828 HGNC:13745 "ENST00000221856.11|NM_024333.3" -HGNC:13753 FSD1L fibronectin type III and SPRY domain containing 1 like protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "CSDUFD1|CCDC10|FSD1NL|FSD1CL" "cystatin and DUF19 domain containing 1|coiled-coil domain containing 10|fibronectin type III and SPRY domain containing 1-like" Fibronectin type III domain containing 555 2001-12-05 2006-03-10 2016-03-15 2023-03-15 83856 ENSG00000106701 OTTHUMG00000020426 uc033ded.2 AF316830 NM_207647 "CCDS83391|CCDS6765|CCDS47999|CCDS6764" Q9BXM9 11267680 MGI:2442443 RGD:1564809 609829 HGNC:13753 "ENST00000481272.6|NM_001145313.3" +HGNC:13745 FSD1 fibronectin type III and SPRY domain containing 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC3213|MIR1" fibronectin type 3 and SPRY domain containing 1 Fibronectin type III domain containing 555 2003-11-10 2005-03-01 2023-01-20 79187 ENSG00000105255 OTTHUMG00000181881 uc002lzy.3 AF316829 NM_024333 "CCDS12127|CCDS82277" Q9BTV5 11267680 MGI:1934858 RGD:1583850 609828 HGNC:13745 "ENST00000221856.11|NM_024333.3" +HGNC:13753 FSD1L fibronectin type III and SPRY domain containing 1 like protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "CSDUFD1|CCDC10|FSD1NL|FSD1CL" "cystatin and DUF19 domain containing 1|coiled-coil domain containing 10|fibronectin type III and SPRY domain containing 1-like" Fibronectin type III domain containing 555 2001-12-05 2006-03-10 2016-03-15 2023-03-15 83856 ENSG00000106701 OTTHUMG00000020426 uc033ded.2 AF316830 NM_207647 "CCDS6764|CCDS6765|CCDS83391|CCDS47999" Q9BXM9 11267680 MGI:2442443 RGD:1564809 609829 HGNC:13753 "ENST00000481272.6|NM_001145313.3" HGNC:18024 FSD2 fibronectin type III and SPRY domain containing 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 RP11-127F21 minispryn SPRYD1 SPRY domain containing 1 Fibronectin type III domain containing 555 2002-01-29 2006-01-11 2006-01-11 2023-01-20 123722 ENSG00000186628 OTTHUMG00000172400 uc002bjd.4 AK122875 NM_001007122 "CCDS45332|CCDS61738" A1L4K1 28740084 MGI:2444310 RGD:1305167 HGNC:18024 "ENST00000334574.12|NM_001007122.4" HGNC:3964 FSHB follicle stimulating hormone subunit beta protein-coding gene gene with protein product Approved 11p14.1 11p14.1 follitropin, beta chain follicle stimulating hormone, beta polypeptide "Receptor ligands|Glycoprotein hormone subunits" "542|1896" 1986-01-01 2018-04-23 2023-01-20 2488 ENSG00000131808 OTTHUMG00000166146 uc001msm.4 NM_000510 CCDS7868 P01225 "2885163|3151250" MGI:95582 RGD:2630 136530 121941 ligandId:3733 HGNC:3964 "ENST00000533718.2|NM_001382289.1" HGNC:3964 HGNC:3969 FSHR follicle stimulating hormone receptor protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "FSHRO|LGR1" ODG1 Glycoprotein hormone receptors 199 1991-07-09 2023-01-20 2492 ENSG00000170820 OTTHUMG00000129259 uc002rww.4 NM_000145 "CCDS1844|CCDS1843" P23945 "8230163|8855829" MGI:95583 RGD:2632 LRG_536|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_536.xml 136435 121943 objectId:253 HGNC:3969 "ENST00000406846.7|NM_000145.4" HGNC:3969 @@ -9655,10 +9656,10 @@ HGNC:3971 FST follistatin protein-coding gene gene with protein product Approved HGNC:3972 FSTL1 follistatin like 1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "FRP|FSL1|OCC1|OCC-1|tsc36" follistatin-like 1 "SPARC family|MicroRNA protein coding host genes" "1278|1691" 1999-09-07 2015-11-11 2023-01-20 11167 ENSG00000163430 OTTHUMG00000159440 uc003eds.4 U06863 NM_007085 CCDS2998 Q12841 "7957230|9786430" MGI:102793 RGD:68955 605547 I01.967 HGNC:3972 "ENST00000295633.8|NM_007085.5" HGNC:3973 FSTL3 follistatin like 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLRG|FSRP" follistatin-related protein follistatin-like 3 (secreted glycoprotein) 1999-09-07 2016-01-21 2023-01-20 10272 ENSG00000070404 OTTHUMG00000180593 uc002lpk.3 U76702 NM_005860 CCDS12040 O95633 "9671416|15527507" MGI:1890391 RGD:621811 FSTL3 605343 I01.968 HGNC:3973 "ENST00000166139.9|NM_005860.3" HGNC:21389 FSTL4 follistatin like 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 KIAA1061 follistatin-like 4 "I-set domain containing|EF-hand domain containing|MicroRNA protein coding host genes" "593|863|1691" 2004-04-05 2016-01-21 2023-01-20 23105 ENSG00000053108 OTTHUMG00000162729 uc003kyn.2 AB028984 NM_015082 CCDS34238 Q6MZW2 "10470851|15527507" MGI:2443199 RGD:1307227 I01.977 HGNC:21389 "ENST00000265342.12|NM_015082.2" -HGNC:21386 FSTL5 follistatin like 5 protein-coding gene gene with protein product Approved 4q32.2 04q32.2 "DKFZp566D234|KIAA1263" follistatin-like 5 "I-set domain containing|EF-hand domain containing" "593|863" 2004-04-05 2016-01-21 2023-01-20 56884 ENSG00000168843 OTTHUMG00000161397 uc003iqh.5 BC036502 NM_020116 "CCDS47158|CCDS47157|CCDS3802" Q8N475 "10574462|15527507" MGI:2442179 RGD:1306858 620128 I01.977 HGNC:21386 "ENST00000306100.10|NM_020116.5" -HGNC:3974 FTCD formimidoyltransferase cyclodeaminase protein-coding gene gene with protein product Approved 21q22.3 21q22.3 formiminotransferase cyclodeaminase 1999-07-23 2013-06-10 2023-01-20 10841 ENSG00000160282 OTTHUMG00000090488 uc010gqg.2 U91541 NM_006657 "CCDS82684|CCDS13731" O95954 "10029623|10773664" MGI:1339962 RGD:70915 606806 121951 "2.1.2.5|4.3.1.4" HGNC:3974 "ENST00000397746.8|NM_206965.2" HGNC:3974 +HGNC:21386 FSTL5 follistatin like 5 protein-coding gene gene with protein product Approved 4q32.2 04q32.2 "DKFZp566D234|KIAA1263" follistatin-like 5 "I-set domain containing|EF-hand domain containing" "593|863" 2004-04-05 2016-01-21 2023-01-20 56884 ENSG00000168843 OTTHUMG00000161397 uc003iqh.5 BC036502 NM_020116 "CCDS3802|CCDS47158|CCDS47157" Q8N475 "10574462|15527507" MGI:2442179 RGD:1306858 620128 I01.977 HGNC:21386 "ENST00000306100.10|NM_020116.5" +HGNC:3974 FTCD formimidoyltransferase cyclodeaminase protein-coding gene gene with protein product Approved 21q22.3 21q22.3 formiminotransferase cyclodeaminase 1999-07-23 2013-06-10 2023-01-20 10841 ENSG00000160282 OTTHUMG00000090488 uc010gqg.2 U91541 NM_006657 "CCDS13731|CCDS82684" O95954 "10029623|10773664" MGI:1339962 RGD:70915 606806 121951 "2.1.2.5|4.3.1.4" HGNC:3974 "ENST00000397746.8|NM_206965.2" HGNC:3974 HGNC:40243 FTCD-AS1 FTCD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 FTCD antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100861507 ENSG00000237338 OTTHUMG00000090486 uc062ayk.1 "AA905381|AI217733" NR_170989 FTCD-AS1 HGNC:40243 -HGNC:48661 FTCDNL1 formiminotransferase cyclodeaminase N-terminal like protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FONG formiminotransferase N-terminal sub-domain containing gene 2013-06-01 2023-01-20 348751 ENSG00000226124 OTTHUMG00000154481 BC039445 NM_001350853 "CCDS86909|CCDS86906|CCDS86907|CCDS86908" E5RQL4 21573128 614308 HGNC:48661 "ENST00000420128.6|NM_001363886.2" +HGNC:48661 FTCDNL1 formiminotransferase cyclodeaminase N-terminal like protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FONG formiminotransferase N-terminal sub-domain containing gene 2013-06-01 2023-01-20 348751 ENSG00000226124 OTTHUMG00000154481 BC039445 NM_001350853 "CCDS86907|CCDS86908|CCDS86906|CCDS86909" E5RQL4 21573128 614308 HGNC:48661 "ENST00000420128.6|NM_001363886.2" HGNC:3976 FTH1 ferritin heavy chain 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FTH|PLIF|PIG15|FHC" "apoferritin|placenta immunoregulatory factor|proliferation-inducing protein 15" FTHL6 ferritin, heavy polypeptide 1 Ferritin subunits 1455 2001-06-22 2016-05-20 2023-01-20 2495 ENSG00000167996 OTTHUMG00000166217 uc001nsu.3 NM_002032 CCDS41655 P02794 3020541 MGI:95588 RGD:2635 134770 159608 HGNC:3976 "ENST00000273550.12|NM_002032.3" HGNC:3976 HGNC:3979 FTH1P1 ferritin heavy chain 1 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 FTHL1 "ferritin, heavy polypeptide-like 1|ferritin, heavy polypeptide 1 pseudogene" 2001-06-22 2010-10-13 2016-05-20 2016-05-20 2496 ENSG00000232273 OTTHUMG00000004219 NG_004768 3862645 HGNC:3979 HGNC:3989 FTH1P2 ferritin heavy chain 1 pseudogene 2 pseudogene pseudogene Approved 1q42.13 01q42.13 FTHL2 "ferritin, heavy polypeptide-like 2|ferritin, heavy polypeptide 1 pseudogene 2" 2001-06-22 2010-10-13 2016-05-20 2016-05-20 2497 ENSG00000234975 OTTHUMG00000037918 NR_002200 3862645 PGOHUM00000245244 HGNC:3989 @@ -9711,10 +9712,10 @@ HGNC:17345 FTMT ferritin mitochondrial protein-coding gene gene with protein pro HGNC:24678 FTO FTO alpha-ketoglutarate dependent dioxygenase protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "KIAA1752|MGC5149|ALKBH9|IFEX9" "alkB homolog 9|alpha-ketoglutarate-dependent dioxygenase|intragenic FTO exon 9 containing transcript" "fat mass and obesity associated|FTO, alpha-ketoglutarate dependent dioxygenase" Alkylation repair homologs 401 2007-04-12 2019-01-25 2023-05-23 79068 ENSG00000140718 OTTHUMG00000158780 uc002ehr.4 BC003583 NM_001080432 CCDS32448 Q9C0B1 "17434869|17991826|22002720" MGI:1347093 RGD:1305121 610966 212927 1.14.11.- HGNC:24678 "ENST00000471389.6|NM_001080432.3" HGNC:24678 HGNC:43758 FTO-IT1 FTO intronic transcript 1 non-coding RNA RNA, long non-coding Approved 16q12.2 16q12.2 FTO intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2012-02-22 2015-02-25 2016-11-11 100505692 uc032eac.2 CA450585 NR_103838 HGNC:43758 HGNC:43759 FTOP1 FTO pseudogene 1 pseudogene pseudogene Approved 2p21 02p21 fat mass and obesity associated pseudogene 1 2012-02-22 2018-07-04 2018-07-04 100874223 ENSG00000226491 OTTHUMG00000152364 NG_032565 PGOHUM00000240025 HGNC:43759 -HGNC:13254 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "JM23|CDLIV|SPB1|TRM7|TRMT7" tRNA methyltransferase 7 homolog (S. cerevisiae) "MRX9|MRX44" "mental retardation, X-linked 9|mental retardation, X-linked 44|FtsJ RNA methyltransferase homolog 1 (E. coli)|FtsJ RNA methyltransferase homolog 1" 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2001-11-09 2019-01-25 2023-01-20 24140 ENSG00000068438 OTTHUMG00000024118 uc004djo.3 AJ005892 NM_001282157 "CCDS14295|CCDS75972|CCDS14294" Q9UET6 "15342698|15162322" MGI:1859648 RGD:1561061 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FTSJ1 300499 121955 HGNC:13254 "ENST00000348411.3|NM_012280.4" HGNC:13254 +HGNC:13254 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "JM23|CDLIV|SPB1|TRM7|TRMT7" tRNA methyltransferase 7 homolog (S. cerevisiae) "MRX9|MRX44" "mental retardation, X-linked 9|mental retardation, X-linked 44|FtsJ RNA methyltransferase homolog 1 (E. coli)|FtsJ RNA methyltransferase homolog 1" 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2001-11-09 2019-01-25 2023-01-20 24140 ENSG00000068438 OTTHUMG00000024118 uc004djo.3 AJ005892 NM_001282157 "CCDS14294|CCDS14295|CCDS75972" Q9UET6 "15342698|15162322" MGI:1859648 RGD:1561061 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FTSJ1 300499 121955 HGNC:13254 "ENST00000348411.3|NM_012280.4" HGNC:13254 HGNC:17136 FTSJ3 FtsJ RNA 2'-O-methyltransferase 3 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 SPB1 SPB1 RNA methyltransferase homolog (S. cerevisiae) "FtsJ homolog 3 (E. coli)|FtsJ RNA methyltransferase homolog 3" "Armadillo like helical domain containing|7BS 2'O-ribose DNA/RNA methyltransferases" "1492|2062" 2001-11-09 2019-01-25 2023-01-20 117246 ENSG00000108592 OTTHUMG00000179012 uc002jca.3 AF327355 NM_017647 CCDS11644 Q8IY81 30626973 MGI:1860295 RGD:1307110 618411 470354 HGNC:17136 "ENST00000427159.7|NM_017647.4" HGNC:37190 FTX FTX transcript, XIST regulator non-coding RNA RNA, long non-coding Approved Xq13.2 Xq13.2 "LINC00182|FLJ33139" five prime to XIST "NCRNA00182|MIR374AHG" "non-protein coding RNA 182|mir-374a-545 cluster host gene (non-protein coding)|FTX transcript, XIST regulator (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2009-08-18 2011-04-21 2018-05-16 2018-05-16 100302692 ENSG00000230590 OTTHUMG00000021850 uc064zzg.1 AK057701 NR_028379 "12045143|21254562|21118898" MGI:1926128 RGD:1564124 300936 Ftx FTX HGNC:37190 -HGNC:4004 FUBP1 far upstream element binding protein 1 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FBP FUSE binding protein 1 FUBP far upstream element (FUSE) binding protein 1 1999-01-06 2016-02-04 2023-01-20 8880 ENSG00000162613 OTTHUMG00000040799 uc001dii.4 U05040 NM_003902 "CCDS90982|CCDS90984|CCDS683" Q96AE4 8125259 MGI:1196294 RGD:1591892 LRG_995|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_995.xml FUBP1 603444 HGNC:4004 "ENST00000370768.7|NM_003902.5" +HGNC:4004 FUBP1 far upstream element binding protein 1 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FBP FUSE binding protein 1 FUBP far upstream element (FUSE) binding protein 1 1999-01-06 2016-02-04 2023-01-20 8880 ENSG00000162613 OTTHUMG00000040799 uc001dii.4 U05040 NM_003902 "CCDS90984|CCDS90982|CCDS683" Q96AE4 8125259 MGI:1196294 RGD:1591892 LRG_995|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_995.xml FUBP1 603444 HGNC:4004 "ENST00000370768.7|NM_003902.5" HGNC:4005 FUBP3 far upstream element binding protein 3 protein-coding gene gene with protein product Approved 9q34.11-q34.12 09q34.11-q34.12 FBP3 far upstream element (FUSE) binding protein 3 MicroRNA protein coding host genes 1691 1999-07-22 2016-03-15 2023-01-20 8939 ENSG00000107164 OTTHUMG00000020809 uc004bzr.2 U69127 NM_003934 CCDS43893 Q96I24 8940189 MGI:2443699 RGD:1307004 603536 HGNC:4005 "ENST00000319725.10|NM_003934.2" HGNC:4006 FUCA1 alpha-L-fucosidase 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "α-L-fucosidase 1|tissue fucosidase|a-L-fucosidase 1" fucosidase, alpha-L- 1, tissue Alpha-L-fucosidases 1653 2001-06-22 2017-06-27 2023-01-20 2517 ENSG00000179163 OTTHUMG00000002965 uc001bie.5 BC017338 NM_000147 CCDS244 P04066 2803312 MGI:95593 RGD:2636 612280 121963 3.2.1.51 HGNC:4006 "ENST00000374479.4|NM_000147.5" HGNC:4006 HGNC:4007 FUCA1P1 alpha-L-fucosidase 1 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 FUCA1P "fucosidase, alpha-L- 1, tissue pseudogene|fucosidase, alpha-L- 1, tissue pseudogene 1" 2001-06-22 2010-03-12 2017-06-27 2017-06-27 2518 ENSG00000237053 OTTHUMG00000154420 M80816 NG_001122 1977129 PGOHUM00000240438 HGNC:4007 @@ -9725,7 +9726,7 @@ HGNC:17253 FUNDC2P1 FUN14 domain containing 2 pseudogene 1 pseudogene pseudogene HGNC:17247 FUNDC2P2 FUN14 domain containing 2 pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2010-03-12 2014-11-19 388965 ENSG00000182814 OTTHUMG00000152875 NR_003663 PGOHUM00000240702 HGNC:17247 HGNC:37970 FUNDC2P3 FUN14 domain containing 2 pseudogene 3 pseudogene pseudogene Approved 6q24.3 06q24.3 2010-03-16 2020-04-20 644625 ENSG00000187103 OTTHUMG00000015751 NG_022375 PGOHUM00000243808 HGNC:37970 HGNC:37971 FUNDC2P4 FUN14 domain containing 2 pseudogene 4 pseudogene pseudogene Approved 22q13.1 22q13.1 2010-03-16 2014-11-19 100127979 ENSG00000227009 OTTHUMG00000151185 NG_022878 PGOHUM00000246588 HGNC:37971 -HGNC:24733 FUOM fucose mutarotase protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "FLJ26016|FucU|FucM" C10orf125 chromosome 10 open reading frame 125 2004-05-27 2012-07-10 2012-07-10 2023-01-20 282969 ENSG00000148803 OTTHUMG00000019315 uc001lmt.3 AK129527 NM_198472 "CCDS76364|CCDS44499|CCDS7680" A2VDF0 17602138 MGI:1916314 RGD:1311186 617725 5.1.3.29 HGNC:24733 "ENST00000278025.9|NM_001098483.3" +HGNC:24733 FUOM fucose mutarotase protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "FLJ26016|FucU|FucM" C10orf125 chromosome 10 open reading frame 125 2004-05-27 2012-07-10 2012-07-10 2023-01-20 282969 ENSG00000148803 OTTHUMG00000019315 uc001lmt.3 AK129527 NM_198472 "CCDS44499|CCDS76364|CCDS7680" A2VDF0 17602138 MGI:1916314 RGD:1311186 617725 5.1.3.29 HGNC:24733 "ENST00000278025.9|NM_001098483.3" HGNC:8568 FURIN furin, paired basic amino acid cleaving enzyme protein-coding gene gene with protein product Approved 15q26.1 15q26.1 SPC1 "proprotein convertase subtilisin/kexin 3|subtilisin-like proprotein convertase 1" "PCSK3|FUR|PACE" "paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)|furin (paired basic amino acid cleaving enzyme)" Proprotein convertase subtilisin/kexin family 973 1991-08-08 2002-12-06 2016-02-22 2023-01-20 5045 ENSG00000140564 OTTHUMG00000149831 uc002bpu.2 X17094 NM_002569 CCDS10364 P09958 "2251280|1741956" MGI:97513 RGD:3274 136950 S08.071 objectId:2366 HGNC:8568 "ENST00000268171.8|NM_002569.4" HGNC:4010 FUS FUS RNA binding protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "TLS|FUS1|hnRNP-P2|HNRNPP2" "heterogeneous nuclear ribonucleoprotein P2|translocated in liposarcoma" ALS6 "fusion, derived from t(12;16) malignant liposarcoma|amyotrophic lateral sclerosis 6|fusion (involved in t(12;16) in malignant liposarcoma)|fused in sarcoma" "Zinc fingers RANBP2-type |RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "89|725|1950" 1992-11-26 2014-05-09 2023-01-20 2521 ENSG00000089280 OTTHUMG00000132395 uc002ebf.3 AF071213 NM_004960 "CCDS58454|CCDS10707" P35637 "2372777|7503811|19251628|19251627" MGI:1353633 RGD:1308864 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_655|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_655.xml" FUS 137070 159615 HGNC:4010 "ENST00000254108.12|NM_004960.4" HGNC:4010 HGNC:4012 FUT1 fucosyltransferase 1 (H blood group) protein-coding gene gene with protein product Approved 19q13.33 19q13.33 galactoside 2-alpha-L-fucosyltransferase "H|HSC" "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)|fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)" "Fucosyltransferases|Blood group antigens" "434|454" 1989-06-06 2015-11-23 2023-01-20 2523 ENSG00000174951 OTTHUMG00000183325 uc002pkk.3 NM_000148 CCDS12733 P19526 MGI:109375 RGD:2638 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_810|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_810.xml" 211100 2.4.1.69 HGNC:4012 "ENST00000645652.2|NM_001384359.1" @@ -9739,16 +9740,16 @@ HGNC:4019 FUT8 fucosyltransferase 8 protein-coding gene gene with protein produc HGNC:44294 FUT8-AS1 FUT8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.3 14q23.3 FUT8 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-08 2012-08-15 2012-10-12 645431 ENSG00000276116 OTTHUMG00000186893 uc059cmm.1 "AK094893|BX098734|BX161387" NR_024334 FUT8-AS1 HGNC:44294 HGNC:4020 FUT9 fucosyltransferase 9 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 Fuc-TIX alpha (1,3) fucosyltransferase fucosyltransferase 9 (alpha (1,3) fucosyltransferase) Fucosyltransferases 434 1999-07-07 2016-04-05 2023-01-20 10690 ENSG00000172461 OTTHUMG00000015236 uc003pop.5 AB023021 NM_006581 CCDS5033 Q9Y231 "10386598|10575236" MGI:1330859 RGD:619955 606865 HGNC:4020 "ENST00000302103.6|NM_006581.4" HGNC:19234 FUT10 fucosyltransferase 10 protein-coding gene gene with protein product Approved 8p12 08p12 alpha (1,3) fucosyltransferase fucosyltransferase 10 (alpha (1,3) fucosyltransferase) Fucosyltransferases 434 2003-10-15 2016-04-05 2023-01-20 84750 ENSG00000172728 OTTHUMG00000163954 uc003xje.4 AJ512465 NM_032664 CCDS6088 Q6P4F1 MGI:2384748 RGD:1359164 616931 HGNC:19234 "ENST00000327671.10|NM_032664.3" -HGNC:19233 FUT11 fucosyltransferase 11 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 MGC33202 alpha (1,3) fucosyltransferase fucosyltransferase 11 (alpha (1,3) fucosyltransferase) Fucosyltransferases 434 2003-10-15 2016-04-05 2023-01-20 170384 ENSG00000196968 OTTHUMG00000018483 uc001jva.4 BC036037 NM_173540 "CCDS7333|CCDS60558" Q495W5 "11698403|24318988" MGI:1920318 RGD:628731 616932 HGNC:19233 "ENST00000372841.8|NM_173540.3" -HGNC:26219 FUZ fuzzy planar cell polarity protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ22688|Fy|CPLANE3" ciliogenesis and planar polarity effector complex subunit 3 fuzzy homolog (Drosophila) Ciliogenesis and planar polarity effector complex subunits 1610 2006-06-21 2013-03-05 2023-01-20 80199 ENSG00000010361 OTTHUMG00000167281 uc002ppq.4 BC016793 NM_025129 "CCDS12781|CCDS54293|CCDS86790" Q9BT04 21761479 MGI:1917550 RGD:1310608 610622 285396 HGNC:26219 "ENST00000313777.9|NM_025129.5" -HGNC:3951 FXN frataxin protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "FA|FARR|X25|CyaY" FRDA Friedreich ataxia Mitochondrial iron-sulfur assembly components 1853 2001-06-22 2004-08-19 2004-08-16 2023-03-15 2395 ENSG00000165060 OTTHUMG00000019977 uc004aha.3 U43752 NM_000144 "CCDS43834|CCDS6626" Q16595 "8596916|8841185" MGI:1096879 RGD:1565754 LRG_339|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_339.xml 606829 121965 HGNC:3951 "ENST00000484259.3|NM_000144.5" HGNC:3951 +HGNC:19233 FUT11 fucosyltransferase 11 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 MGC33202 alpha (1,3) fucosyltransferase fucosyltransferase 11 (alpha (1,3) fucosyltransferase) Fucosyltransferases 434 2003-10-15 2016-04-05 2023-01-20 170384 ENSG00000196968 OTTHUMG00000018483 uc001jva.4 BC036037 NM_173540 "CCDS60558|CCDS7333" Q495W5 "11698403|24318988" MGI:1920318 RGD:628731 616932 HGNC:19233 "ENST00000372841.8|NM_173540.3" +HGNC:26219 FUZ fuzzy planar cell polarity protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ22688|Fy|CPLANE3" ciliogenesis and planar polarity effector complex subunit 3 fuzzy homolog (Drosophila) Ciliogenesis and planar polarity effector complex subunits 1610 2006-06-21 2013-03-05 2023-01-20 80199 ENSG00000010361 OTTHUMG00000167281 uc002ppq.4 BC016793 NM_025129 "CCDS86790|CCDS54293|CCDS12781" Q9BT04 21761479 MGI:1917550 RGD:1310608 610622 285396 HGNC:26219 "ENST00000313777.9|NM_025129.5" +HGNC:3951 FXN frataxin protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "FA|FARR|X25|CyaY" FRDA Friedreich ataxia Mitochondrial iron-sulfur assembly components 1853 2001-06-22 2004-08-19 2004-08-16 2023-03-15 2395 ENSG00000165060 OTTHUMG00000019977 uc004aha.3 U43752 NM_000144 "CCDS6626|CCDS43834" Q16595 "8596916|8841185" MGI:1096879 RGD:1565754 LRG_339|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_339.xml 606829 121965 HGNC:3951 "ENST00000484259.3|NM_000144.5" HGNC:3951 HGNC:20012 FXNP1 frataxin pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 FRDAP Friedreich ataxia pseudogene 2003-01-13 2015-03-19 2015-03-19 2015-03-19 122942 ENSG00000258421 OTTHUMG00000171521 NG_002485 PGOHUM00000292419 HGNC:20012 HGNC:51607 FXNP2 frataxin pseudogene 2 pseudogene pseudogene Approved 9q33.3 09q33.3 2015-03-19 2020-02-11 2020-02-11 100418706 ENSG00000177736 OTTHUMG00000020666 NG_016620 PGOHUM00000304052 HGNC:51607 -HGNC:4023 FXR1 FMR1 autosomal homolog 1 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 fragile X mental retardation, autosomal homolog 1 1999-04-16 2016-02-17 2023-01-20 8087 ENSG00000114416 OTTHUMG00000158138 uc003fkq.4 M67468 NM_001013438 "CCDS87169|CCDS3238|CCDS33894|CCDS46965" P51114 "7781595|9642279" MGI:104860 RGD:1311733 600819 HGNC:4023 "ENST00000357559.9|NM_005087.4" HGNC:4023 +HGNC:4023 FXR1 FMR1 autosomal homolog 1 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 fragile X mental retardation, autosomal homolog 1 1999-04-16 2016-02-17 2023-01-20 8087 ENSG00000114416 OTTHUMG00000158138 uc003fkq.4 M67468 NM_001013438 "CCDS33894|CCDS3238|CCDS87169|CCDS46965" P51114 "7781595|9642279" MGI:104860 RGD:1311733 600819 HGNC:4023 "ENST00000357559.9|NM_005087.4" HGNC:4023 HGNC:4024 FXR2 FMR1 autosomal homolog 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FMR1L2 fragile X mental retardation, autosomal homolog 2 1999-05-17 2016-02-17 2023-01-20 9513 ENSG00000129245 OTTHUMG00000178237 uc002gia.3 U31501 NM_004860 CCDS45604 P51116 "7489725|9259278" MGI:1346074 RGD:1307011 LRG_285|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_285.xml 605339 HGNC:4024 "ENST00000250113.12|NM_004860.4" HGNC:4025 FXYD1 FXYD domain containing ion transport regulator 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 PLM phospholemman 1996-12-30 2008-08-01 2023-01-20 5348 ENSG00000266964 OTTHUMG00000182359 uc002nyc.5 NM_021902 CCDS12445 O00168 9169143 MGI:1889273 RGD:69306 602359 objectId:3152 HGNC:4025 "ENST00000351325.9|NM_021902.4" HGNC:4026 FXYD2 FXYD domain containing ion transport regulator 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC12372 "ATP1G1|HOMG2" hypomagnesemia 2, renal 1997-06-12 2003-02-28 2023-03-15 486 ENSG00000137731 OTTHUMG00000166990 uc001prj.2 AF241236 NM_021603 "CCDS8386|CCDS8385" P54710 "9048881|9915957" MGI:1195260 RGD:2173 601814 121972 objectId:2610 HGNC:4026 "ENST00000292079.7|NM_001680.5" HGNC:4026 -HGNC:4027 FXYD3 FXYD domain containing ion transport regulator 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 MAT-8 PLML FXYD domain-containing ion transport regulator 3 MicroRNA protein coding host genes 1691 1997-01-16 2002-01-14 2023-01-20 5349 ENSG00000089356 OTTHUMG00000184625 uc002nxv.4 X93036 NM_021910 "CCDS12443|CCDS46049|CCDS12442|CCDS46050|CCDS92586|CCDS46048" Q14802 "7836447|10950925" MGI:107497 RGD:620825 604996 objectId:3153 HGNC:4027 "ENST00000604404.6|NM_005971.4" +HGNC:4027 FXYD3 FXYD domain containing ion transport regulator 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 MAT-8 PLML FXYD domain-containing ion transport regulator 3 MicroRNA protein coding host genes 1691 1997-01-16 2002-01-14 2023-01-20 5349 ENSG00000089356 OTTHUMG00000184625 uc002nxv.4 X93036 NM_021910 "CCDS12443|CCDS46050|CCDS46048|CCDS92586|CCDS46049|CCDS12442" Q14802 "7836447|10950925" MGI:107497 RGD:620825 604996 objectId:3153 HGNC:4027 "ENST00000604404.6|NM_005971.4" HGNC:4028 FXYD4 FXYD domain containing ion transport regulator 4 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 CHIF FXYD domain-containing ion transport regulator 4 2000-05-23 2002-01-14 2023-01-20 53828 ENSG00000150201 OTTHUMG00000018027 uc057swf.1 NM_173160 CCDS7203 P59646 "10950925|12763854" MGI:1889005 RGD:70998 616926 HGNC:4028 "ENST00000476166.6|NM_173160.3" HGNC:4029 FXYD5 FXYD domain containing ion transport regulator 5 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 OIT2 dysadherin FXYD domain-containing ion transport regulator 5 2000-05-23 2002-01-14 2023-01-20 53827 ENSG00000089327 OTTHUMG00000048092 uc002nyg.3 AF161462 NM_014164 "CCDS82328|CCDS12447" Q96DB9 MGI:1201785 RGD:620827 606669 HGNC:4029 "ENST00000392219.7|NM_014164.6" HGNC:4030 FXYD6 FXYD domain containing ion transport regulator 6 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 phosphohippolin FXYD domain-containing ion transport regulator 6 2000-05-23 2002-01-14 2023-01-20 53826 ENSG00000137726 OTTHUMG00000166991 uc021qra.2 BC093040 NM_022003 CCDS8387 Q9H0Q3 10950925 MGI:1890226 RGD:69315 606683 HGNC:4030 "ENST00000526014.6|NM_022003.4" @@ -9761,7 +9762,7 @@ HGNC:4034 FXYD7 FXYD domain containing ion transport regulator 7 protein-coding HGNC:4036 FYB1 FYN binding protein 1 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 "SLAP-130|FYB-120/130|ADAP" adhesion and degranulation promoting adaptor protein FYB "FYN-binding protein (FYB-120/130)|FYN binding protein" 1998-04-22 2017-05-25 2017-05-25 2023-01-20 2533 ENSG00000082074 OTTHUMG00000162071 uc003jlu.4 U93049 NM_001465 "CCDS47200|CCDS58945|CCDS54848" O15117 "9115214|9207119" MGI:1346327 RGD:1563421 LRG_1351|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1351.xml 602731 HGNC:4036 "ENST00000512982.4|NM_001465.6" HGNC:4036 HGNC:27295 FYB2 FYN binding protein 2 protein-coding gene gene with protein product Approved 1p32.2 01p32.2 "RP4-758N20.2|FLJ43208|ARAP" activation-dependent, raft-recruited ADAP-like phosphoprotein C1orf168 chromosome 1 open reading frame 168 2005-07-20 2017-05-25 2017-05-25 2023-01-20 199920 ENSG00000187889 OTTHUMG00000008281 uc001cym.5 BX648439 NM_001004303 CCDS30729 Q5VWT5 27335501 MGI:2685466 RGD:1564074 618478 HGNC:27295 "ENST00000343433.7|NM_001004303.5" HGNC:14673 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ13335|ZFYVE7" FYVE and coiled-coil domain containing 1 "Zinc fingers FYVE-type|GOLD domain containing" "81|1062" 2001-03-06 2019-09-25 2023-01-20 79443 ENSG00000163820 OTTHUMG00000133447 uc003cpb.6 AJ292348 NM_024513 CCDS2734 Q9BQS8 11896456 MGI:107277 RGD:1309069 607182 270347 HGNC:14673 "ENST00000296137.7|NM_024513.4" HGNC:14673 -HGNC:4037 FYN FYN proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 6q21 06q21 "SYN|SLK|MGC45350" FYN oncogene related to SRC, FGR, YES "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1988-08-19 2014-06-25 2023-01-20 2534 ENSG00000010810 OTTHUMG00000016305 uc003pvk.3 AK056699 NM_001370529 "CCDS5095|CCDS5094|CCDS5096" P06241 3526330 MGI:95602 RGD:2641 137025 objectId:2026 HGNC:4037 "ENST00000354650.7|NM_002037.5" +HGNC:4037 FYN FYN proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 6q21 06q21 "SYN|SLK|MGC45350" FYN oncogene related to SRC, FGR, YES "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1988-08-19 2014-06-25 2023-01-20 2534 ENSG00000010810 OTTHUMG00000016305 uc003pvk.3 AK056699 NM_001370529 "CCDS5096|CCDS5094|CCDS5095" P06241 3526330 MGI:95602 RGD:2641 137025 objectId:2026 HGNC:4037 "ENST00000354650.7|NM_002037.5" HGNC:25407 FYTTD1 forty-two-three domain containing 1 protein-coding gene gene with protein product Approved 3q29 03q29 "DKFZp761B1514|UIF" UAP56-interacting factor Transcription and export complex 1 subunits 1348 2005-01-24 2023-01-20 84248 ENSG00000122068 OTTHUMG00000155453 uc003fyi.3 AJ344094 NM_032288 "CCDS3329|CCDS43196" Q96QD9 19836239 MGI:1917955 RGD:1306899 616933 HGNC:25407 "ENST00000241502.9|NM_032288.7" HGNC:38035 FYTTD1P1 forty-two-three domain containing 1 pseudogene 1 pseudogene pseudogene Approved 9q31.1 09q31.1 2010-03-23 2020-04-20 100128665 ENSG00000234502 OTTHUMG00000020379 NG_012326 PGOHUM00000236288 HGNC:38035 HGNC:4038 FZD1 frizzled class receptor 1 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 DKFZp564G072 "Wnt receptor|frizzled, Drosophila, homolog of, 1" "frizzled (Drosophila) homolog 1|frizzled homolog 1 (Drosophila)|frizzled 1, seven transmembrane spanning receptor|frizzled family receptor 1" G protein-coupled receptors, Class F frizzled 286 1998-09-17 2014-01-29 2023-01-20 8321 ENSG00000157240 OTTHUMG00000023046 uc003ula.4 AB017363 NM_003505 CCDS5620 Q9UP38 9813155 MGI:1196625 RGD:61916 603408 objectId:229 HGNC:4038 "ENST00000287934.4|NM_003505.2" @@ -9770,60 +9771,60 @@ HGNC:4041 FZD3 frizzled class receptor 3 protein-coding gene gene with protein p HGNC:4042 FZD4 frizzled class receptor 4 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 CD344 EVR1 "frizzled (Drosophila) homolog 4|exudative vitreoretinopathy 1|frizzled homolog 4 (Drosophila)|frizzled 4, seven transmembrane spanning receptor|frizzled family receptor 4" "G protein-coupled receptors, Class F frizzled|CD molecules" "286|471" 1998-09-17 2014-01-29 2023-01-20 8322 ENSG00000174804 OTTHUMG00000167231 uc001pce.4 AB032417 NM_012193 CCDS8279 Q9ULV1 "10544037|15024691" MGI:108520 RGD:71017 604579 121977 objectId:232 CD344 HGNC:4042 "ENST00000531380.2|NM_012193.4" HGNC:4042 HGNC:54219 FZD4-DT FZD4 divergent transcript non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 Divergent transcripts 1990 2019-04-09 2019-04-09 100506368 ENSG00000246523 NR_038905 HGNC:54219 HGNC:4043 FZD5 frizzled class receptor 5 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "HFZ5|DKFZP434E2135" C2orf31 "frizzled (Drosophila) homolog 5|chromosome 2 open reading frame 31|frizzled homolog 5 (Drosophila)|frizzled 5, seven transmembrane spanning receptor|frizzled family receptor 5" G protein-coupled receptors, Class F frizzled 286 1998-09-17 2014-01-29 2023-01-20 7855 ENSG00000163251 OTTHUMG00000154790 uc002vcj.4 U43318 NM_003468 CCDS33366 Q13467 "8626800|11408929" MGI:108571 RGD:631406 601723 464482 objectId:233 HGNC:4043 "ENST00000295417.4|NM_003468.4" -HGNC:4044 FZD6 frizzled class receptor 6 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 Hfz6 "frizzled (Drosophila) homolog 6|frizzled homolog 6 (Drosophila)|frizzled 6, seven transmembrane spanning receptor|frizzled family receptor 6" G protein-coupled receptors, Class F frizzled 286 1998-09-17 2014-01-29 2023-01-20 8323 ENSG00000164930 OTTHUMG00000164840 uc003ylh.4 AB012911 NM_003506 "CCDS6298|CCDS55268" O60353 "9480858|14747478" MGI:108474 RGD:628816 603409 280659 objectId:234 HGNC:4044 "ENST00000358755.5|NM_003506.4" +HGNC:4044 FZD6 frizzled class receptor 6 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 Hfz6 "frizzled (Drosophila) homolog 6|frizzled homolog 6 (Drosophila)|frizzled 6, seven transmembrane spanning receptor|frizzled family receptor 6" G protein-coupled receptors, Class F frizzled 286 1998-09-17 2014-01-29 2023-01-20 8323 ENSG00000164930 OTTHUMG00000164840 uc003ylh.4 AB012911 NM_003506 "CCDS55268|CCDS6298" O60353 "9480858|14747478" MGI:108474 RGD:628816 603409 280659 objectId:234 HGNC:4044 "ENST00000358755.5|NM_003506.4" HGNC:4045 FZD7 frizzled class receptor 7 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FzE3 "frizzled (Drosophila) homolog 7|frizzled homolog 7 (Drosophila)|frizzled 7, seven transmembrane spanning receptor|frizzled family receptor 7" G protein-coupled receptors, Class F frizzled 286 1998-09-17 2014-01-29 2023-01-20 8324 ENSG00000155760 OTTHUMG00000132841 uc002uyw.2 AB010881 NM_003507 CCDS2351 O75084 "9707618|9813155" MGI:108570 RGD:2321905 603410 objectId:235 HGNC:4045 "ENST00000286201.3|NM_003507.2" HGNC:4046 FZD8 frizzled class receptor 8 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "frizzled (Drosophila) homolog 8|frizzled homolog 8 (Drosophila)|frizzled 8, seven transmembrane spanning receptor|frizzled family receptor 8" "G protein-coupled receptors, Class F frizzled|MicroRNA protein coding host genes" "286|1691" 1998-09-17 2014-01-29 2023-01-20 8325 ENSG00000177283 OTTHUMG00000017956 uc001iyz.2 AB043703 NM_031866 CCDS7192 Q9H461 11295046 MGI:108460 RGD:1560525 606146 objectId:236 HGNC:4046 "ENST00000374694.3|NM_031866.3" HGNC:4047 FZD9 frizzled class receptor 9 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "FZD3|CD349" "frizzled (Drosophila) homolog 9|frizzled homolog 9 (Drosophila)|frizzled 9, seven transmembrane spanning receptor|frizzled family receptor 9" "G protein-coupled receptors, Class F frizzled|CD molecules" "286|471" 1998-09-17 2014-01-29 2023-01-20 8326 ENSG00000188763 OTTHUMG00000023051 uc003tyb.4 U82169 NM_003508 CCDS5548 O00144 "9147651|10198163" MGI:1313278 RGD:628817 601766 470360 objectId:237 CD349 HGNC:4047 "ENST00000344575.5|NM_003508.3" HGNC:4039 FZD10 frizzled class receptor 10 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 CD350 "frizzled (Drosophila) homolog 10|frizzled homolog 10 (Drosophila)|frizzled 10, seven transmembrane spanning receptor|frizzled family receptor 10" "G protein-coupled receptors, Class F frizzled|CD molecules" "286|471" 1999-09-09 2014-01-29 2023-01-20 11211 ENSG00000111432 OTTHUMG00000168380 uc001uii.4 AB027464 NM_007197 CCDS9267 Q9ULW2 10448064 MGI:2136761 RGD:1583825 606147 objectId:238 CD350 HGNC:4039 "ENST00000229030.5|NM_007197.4" HGNC:48632 FZD10-AS1 FZD10 antisense divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 FLJ31485 FZD10-DT "FZD10 antisense RNA 1 (head to head)|FZD10 divergent transcript" 2013-05-30 2018-11-14 2018-11-14 2018-11-14 440119 ENSG00000250208 OTTHUMG00000168379 AK123838 NR_033834 30401432 MGI:2442398 FZD10-AS1 HGNC:48632 -HGNC:24824 FZR1 fizzy and cell division cycle 20 related 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HCDH1|CDH1|HCDH|FZR|FZR2|KIAA1242|CDC20C" CDC20 homolog 1 "fizzy/cell division cycle 20 related 1 (Drosophila)|fizzy/cell division cycle 20 related 1" WD repeat domain containing 362 2004-03-31 2017-01-20 2023-01-20 51343 ENSG00000105325 OTTHUMG00000180747 uc002lxt.3 AF083810 NM_016263 "CCDS12109|CCDS45917|CCDS45916" Q9UM11 "9734353|11003657" MGI:1926790 RGD:1308713 603619 HGNC:24824 "ENST00000441788.7|NM_016263.4" +HGNC:24824 FZR1 fizzy and cell division cycle 20 related 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HCDH1|CDH1|HCDH|FZR|FZR2|KIAA1242|CDC20C" CDC20 homolog 1 "fizzy/cell division cycle 20 related 1 (Drosophila)|fizzy/cell division cycle 20 related 1" WD repeat domain containing 362 2004-03-31 2017-01-20 2023-01-20 51343 ENSG00000105325 OTTHUMG00000180747 uc002lxt.3 AF083810 NM_016263 "CCDS45917|CCDS45916|CCDS12109" Q9UM11 "9734353|11003657" MGI:1926790 RGD:1308713 603619 HGNC:24824 "ENST00000441788.7|NM_016263.4" HGNC:20338 G2E3 G2/M-phase specific E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 14q12 14q12 "FLJ20333|PHF7B" PHD finger protein 7B KIAA1333 KIAA1333 "PHD finger proteins|HECT domain containing" "88|1959" 2003-11-21 2009-02-03 2010-09-17 2023-01-20 55632 ENSG00000092140 OTTHUMG00000140204 uc001wqk.3 AK000340 NM_017769 "CCDS9638|CCDS76669" Q7L622 "18511420|17239372" MGI:2444298 RGD:1310263 611299 HGNC:20338 "ENST00000206595.11|NM_017769.5" HGNC:53463 G2E3-AS1 G2E3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q12 14q12 CAT1647 Antisense RNAs 1987 2017-04-27 2017-04-27 105370431 ENSG00000257636 OTTHUMG00000170510 NR_151720 28415801 HGNC:53463 HGNC:56525 G2E3P1 G2E3 pseudogene 1 pseudogene pseudogene Approved 3q22.1 03q22.1 2022-10-28 2022-10-28 100130550 ENSG00000240890 NG_028742 PGOHUM00000299593 HGNC:30292 G3BP1 G3BP stress granule assembly factor 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "HDH-VIII|G3BP" "Ras-GTPase-activating protein SH3-domain-binding protein|DNA helicase VIII" GTPase activating protein (SH3 domain) binding protein 1 "RNA binding motif containing|Endoribonucleases" "725|1687" 2006-10-25 2016-02-29 2023-01-20 10146 ENSG00000145907 OTTHUMG00000130123 uc003lum.4 BC006997 NM_005754 CCDS4319 Q13283 "8649363|9889278|25229650" MGI:1351465 RGD:621140 608431 HGNC:30292 "ENST00000356245.8|NM_005754.3" HGNC:54590 G3BP1P1 G3BP1 pseudogene 1 pseudogene pseudogene Approved 2q21.3 02q21.3 2019-10-16 2019-10-16 100422338 ENSG00000235651 NG_023611 -HGNC:30291 G3BP2 G3BP stress granule assembly factor 2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 KIAA0660 Ras-GTPase activating protein SH3 domain-binding protein 2 GTPase activating protein (SH3 domain) binding protein 2 RNA binding motif containing 725 2006-10-25 2016-02-29 2023-01-20 9908 ENSG00000138757 OTTHUMG00000130097 uc003his.4 AB014560 NM_012297 "CCDS93545|CCDS93544|CCDS3572|CCDS3571" Q9UN86 "9734811|9575347|22536444" MGI:2442040 RGD:1309571 620020 HGNC:30291 "ENST00000359707.9|NM_203505.3" -HGNC:4056 G6PC1 glucose-6-phosphatase catalytic subunit 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 GSD1a glycogen storage disease type I, von Gierke disease "G6PT|G6PC" "glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)|glucose-6-phosphatase catalytic subunit" Glucose 6-phosphatases, catalytic 1074 1993-11-05 2020-11-05 2020-11-05 2023-01-20 2538 ENSG00000131482 OTTHUMG00000180657 uc002icb.3 U01120 NM_000151 "CCDS11446|CCDS59291" P35575 7774924 MGI:95607 RGD:2644 LRG_147|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_147.xml 613742 121980 3.1.3.9 HGNC:4056 "ENST00000253801.7|NM_000151.4" HGNC:4056 -HGNC:28906 G6PC2 glucose-6-phosphatase catalytic subunit 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 IGRP islet specific glucose 6 phosphatase catalytic subunit related protein glucose-6-phosphatase, catalytic, 2 Glucose 6-phosphatases, catalytic 1074 2004-03-29 2016-03-14 2023-01-20 57818 ENSG00000152254 OTTHUMG00000132182 uc002uem.4 AF283575 NM_021176 "CCDS46443|CCDS2230" Q9NQR9 "10078553|10078554" MGI:1277193 RGD:69398 608058 HGNC:28906 "ENST00000375363.8|NM_021176.3" -HGNC:24861 G6PC3 glucose-6-phosphatase catalytic subunit 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 UGRP glucose 6 phosphatase, catalytic, 3 Glucose 6-phosphatases, catalytic 1074 2004-03-29 2016-05-27 2023-01-20 92579 ENSG00000141349 OTTHUMG00000181805 uc002iex.4 BC021574 NM_138387 "CCDS92335|CCDS11476|CCDS92336" Q9BUM1 "12370122|12965222" MGI:1915651 RGD:727875 LRG_182|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_182.xml 611045 171034 3.1.3.9 HGNC:24861 "ENST00000269097.9|NM_138387.4" HGNC:24861 +HGNC:30291 G3BP2 G3BP stress granule assembly factor 2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 KIAA0660 Ras-GTPase activating protein SH3 domain-binding protein 2 GTPase activating protein (SH3 domain) binding protein 2 RNA binding motif containing 725 2006-10-25 2016-02-29 2023-01-20 9908 ENSG00000138757 OTTHUMG00000130097 uc003his.4 AB014560 NM_012297 "CCDS93545|CCDS93544|CCDS3571|CCDS3572" Q9UN86 "9734811|9575347|22536444" MGI:2442040 RGD:1309571 620020 HGNC:30291 "ENST00000359707.9|NM_203505.3" +HGNC:4056 G6PC1 glucose-6-phosphatase catalytic subunit 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 GSD1a glycogen storage disease type I, von Gierke disease "G6PT|G6PC" "glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)|glucose-6-phosphatase catalytic subunit" Glucose 6-phosphatases, catalytic 1074 1993-11-05 2020-11-05 2020-11-05 2023-01-20 2538 ENSG00000131482 OTTHUMG00000180657 uc002icb.3 U01120 NM_000151 "CCDS59291|CCDS11446" P35575 7774924 MGI:95607 RGD:2644 LRG_147|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_147.xml 613742 121980 3.1.3.9 HGNC:4056 "ENST00000253801.7|NM_000151.4" HGNC:4056 +HGNC:28906 G6PC2 glucose-6-phosphatase catalytic subunit 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 IGRP islet specific glucose 6 phosphatase catalytic subunit related protein glucose-6-phosphatase, catalytic, 2 Glucose 6-phosphatases, catalytic 1074 2004-03-29 2016-03-14 2023-01-20 57818 ENSG00000152254 OTTHUMG00000132182 uc002uem.4 AF283575 NM_021176 "CCDS2230|CCDS46443" Q9NQR9 "10078553|10078554" MGI:1277193 RGD:69398 608058 HGNC:28906 "ENST00000375363.8|NM_021176.3" +HGNC:24861 G6PC3 glucose-6-phosphatase catalytic subunit 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 UGRP glucose 6 phosphatase, catalytic, 3 Glucose 6-phosphatases, catalytic 1074 2004-03-29 2016-05-27 2023-01-20 92579 ENSG00000141349 OTTHUMG00000181805 uc002iex.4 BC021574 NM_138387 "CCDS92336|CCDS92335|CCDS11476" Q9BUM1 "12370122|12965222" MGI:1915651 RGD:727875 LRG_182|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_182.xml 611045 171034 3.1.3.9 HGNC:24861 "ENST00000269097.9|NM_138387.4" HGNC:24861 HGNC:4057 G6PD glucose-6-phosphate dehydrogenase protein-coding gene gene with protein product Approved Xq28 Xq28 G6PD1 2001-06-22 2023-03-15 2539 ENSG00000160211 OTTHUMG00000024237 uc004flx.3 X03674 NM_000402 CCDS44023 P11413 "3012556|2428611" MGI:105979 RGD:2645 "G6PD Mutations|http://www.bioinf.org.uk/g6pd/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/G6PD|LRG_148|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_148.xml" 305900 121984 1.1.1.49 HGNC:4057 "ENST00000393562.10|NM_001360016.2" HGNC:4057 HGNC:4059 G6PR glucose-6-phosphatase regulator other unknown Approved reserved reserved GSD1aSP glucose-6-phosphatase, regulatory 1998-07-15 2004-05-20 2016-04-20 2541 "2172641|7814621|2996501" HGNC:4065 GAA alpha glucosidase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "Pompe disease|glycogen storage disease type II" "glucosidase, alpha; acid|glucosidase alpha, acid" Glycoside hydrolase family 31 1413 1986-01-01 2020-11-10 2023-01-20 2548 ENSG00000171298 OTTHUMG00000177537 uc002jxo.4 NM_000152 CCDS32760 P10253 MGI:95609 RGD:735227 "GAA - Pompe disease (glycogen storage disease type II)|http://www.LOVD.nl/GAA|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GAA|LRG_673|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_673.xml" 606800 121987 objectId:2611 3.2.1.20 HGNC:4065 "ENST00000302262.8|NM_000152.5" HGNC:4065 -HGNC:4066 GAB1 GRB2 associated binding protein 1 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 DFNB26 deafness, autosomal recessive 26 "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 1996-12-18 2015-11-18 2023-01-20 2549 ENSG00000109458 OTTHUMG00000161432 uc003ijd.4 U43885 NM_002039 "CCDS3760|CCDS3759" Q13480 "8596638|29408807" MGI:108088 RGD:1311085 604439 HGNC:4066 "ENST00000262994.9|NM_002039.4" +HGNC:4066 GAB1 GRB2 associated binding protein 1 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 DFNB26 deafness, autosomal recessive 26 "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 1996-12-18 2015-11-18 2023-01-20 2549 ENSG00000109458 OTTHUMG00000161432 uc003ijd.4 U43885 NM_002039 "CCDS3759|CCDS3760" Q13480 "8596638|29408807" MGI:108088 RGD:1311085 604439 HGNC:4066 "ENST00000262994.9|NM_002039.4" HGNC:14458 GAB2 GRB2 associated binding protein 2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 KIAA0571 Grb2-associated binder 2 Pleckstrin homology domain containing 682 2001-01-24 2015-11-18 2023-01-20 9846 ENSG00000033327 OTTHUMG00000166673 uc001ozh.4 AB011143 NM_080491 "CCDS8259|CCDS8260" Q9UQC2 "10391903|10068651" MGI:1333854 RGD:621367 606203 HGNC:14458 "ENST00000361507.5|NM_080491.3" -HGNC:17515 GAB3 GRB2 associated binding protein 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "DOS/Gab family member 3|Gab3 scaffolding protein" Pleckstrin homology domain containing 682 2002-03-05 2015-11-18 2023-01-20 139716 ENSG00000160219 OTTHUMG00000024245 uc004fmj.3 AY057989 NM_001081573 "CCDS65357|CCDS48198|CCDS14760" Q8WWW8 11739737 MGI:2387324 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GAB3 300482 HGNC:17515 "ENST00000424127.3|NM_001081573.3" +HGNC:17515 GAB3 GRB2 associated binding protein 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "DOS/Gab family member 3|Gab3 scaffolding protein" Pleckstrin homology domain containing 682 2002-03-05 2015-11-18 2023-01-20 139716 ENSG00000160219 OTTHUMG00000024245 uc004fmj.3 AY057989 NM_001081573 "CCDS14760|CCDS65357|CCDS48198" Q8WWW8 11739737 MGI:2387324 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GAB3 300482 HGNC:17515 "ENST00000424127.3|NM_001081573.3" HGNC:18325 GAB4 GRB2 associated binding protein family member 4 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 GRB2-associated binding protein family, member 4 Pleckstrin homology domain containing 682 2004-07-22 2015-11-17 2023-01-20 128954 ENSG00000215568 OTTHUMG00000149992 uc002zlw.4 AK057252 NM_001037814 CCDS42976 Q2WGN9 HGNC:18325 "ENST00000400588.5|NM_001037814.1" HGNC:4067 GABARAP GABA type A receptor-associated protein protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MM46|ATG8A" GABA(A) receptor-associated protein Autophagy related 1022 1999-09-29 2016-03-17 2023-01-20 11337 ENSG00000170296 OTTHUMG00000102156 uc002gfb.4 AF161586 NM_007278 CCDS11092 O95166 9892355 MGI:1861742 RGD:61911 605125 HGNC:4067 "ENST00000302386.10|NM_007278.2" -HGNC:4068 GABARAPL1 GABA type A receptor associated protein like 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "gec1|APG8L|ATG8L|ATG8B" GABA(A) receptor-associated protein like 1 Autophagy related 1022 1999-09-29 2016-03-17 2023-01-20 23710 ENSG00000139112 OTTHUMG00000168411 uc001qxs.4 AF087847 NM_001363598 "CCDS86280|CCDS8620" Q9H0R8 "11414770|11374880" MGI:1914980 RGD:1596143 607420 HGNC:4068 "ENST00000266458.10|NM_031412.4" +HGNC:4068 GABARAPL1 GABA type A receptor associated protein like 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "gec1|APG8L|ATG8L|ATG8B" GABA(A) receptor-associated protein like 1 Autophagy related 1022 1999-09-29 2016-03-17 2023-01-20 23710 ENSG00000139112 OTTHUMG00000168411 uc001qxs.4 AF087847 NM_001363598 "CCDS8620|CCDS86280" Q9H0R8 "11414770|11374880" MGI:1914980 RGD:1596143 607420 HGNC:4068 "ENST00000266458.10|NM_031412.4" HGNC:54822 GABARAPL1-AS1 GABARAPL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 Antisense RNAs 1987 2020-01-17 2020-07-16 116435304 ENSG00000255958 NR_170310 32079618 HGNC:13291 GABARAPL2 GABA type A receptor associated protein like 2 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "GEF2|ATG8|GATE16|GATE-16|ATG8C" GABA(A) receptor-associated protein like 2 Autophagy related 1022 2001-07-09 2016-03-17 2023-01-20 11345 ENSG00000034713 OTTHUMG00000137613 uc002fen.3 AF087848 NM_007285 CCDS10921 P60520 11414770 MGI:1890602 RGD:620510 607452 HGNC:13291 "ENST00000037243.7|NM_007285.7" HGNC:4069 GABARAPL3 GABA type A receptor associated protein like 3 pseudogene pseudogene pseudogene Approved 15q26.1 15q26.1 ATG8D "GABA(A) receptors associated protein like 3|GABA(A) receptors associated protein like 3 (pseudogene)|GABA(A) receptors associated protein like 3, pseudogene" 1999-10-29 2016-03-17 2016-03-17 23766 ENSG00000238244 OTTHUMG00000189344 uc059nep.1 AF180519 NR_028287 Q9BY60 11414770 HGNC:4069 -HGNC:4070 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "hGB1a|GPRC3A" GABA-B receptor gamma-aminobutyric acid (GABA) B receptor, 1 "Gamma-aminobutyric acid type B receptor subunits|Sushi domain containing" "280|1179" 1998-04-21 2016-02-04 2023-03-15 2550 ENSG00000204681 OTTHUMG00000031095 uc003nmt.5 Y11044 NM_001319053 "CCDS4663|CCDS4664|CCDS4665" Q9UBS5 "9753614|9798068" MGI:1860139 RGD:621537 603540 objectId:240 HGNC:4070 "ENST00000377034.9|NM_001470.4" +HGNC:4070 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "hGB1a|GPRC3A" GABA-B receptor gamma-aminobutyric acid (GABA) B receptor, 1 "Gamma-aminobutyric acid type B receptor subunits|Sushi domain containing" "280|1179" 1998-04-21 2016-02-04 2023-03-15 2550 ENSG00000204681 OTTHUMG00000031095 uc003nmt.5 Y11044 NM_001319053 "CCDS4664|CCDS4663|CCDS4665" Q9UBS5 "9753614|9798068" MGI:1860139 RGD:621537 603540 objectId:240 HGNC:4070 "ENST00000377034.9|NM_001470.4" HGNC:4507 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "HG20|GABABR2|GPRC3B" GPR51 "G protein-coupled receptor 51|gamma-aminobutyric acid (GABA) B receptor, 2" Gamma-aminobutyric acid type B receptor subunits 280 1999-04-23 2006-02-16 2016-02-04 2023-01-20 9568 ENSG00000136928 OTTHUMG00000020345 uc004ays.5 AF069755 NM_005458 CCDS6736 O75899 10087195 MGI:2386030 RGD:619864 607340 470362 objectId:241 HGNC:4507 "ENST00000259455.4|NM_005458.8" HGNC:4507 HGNC:4071 GABPA GA binding protein transcription factor subunit alpha protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "E4TF1A|NFT2|NRF2|E4TF1-60|NRF2A" "human nuclear respiratory factor-2 subunit alpha|nuclear respiratory factor 2 alpha subunit" "GA-binding protein transcription factor, alpha subunit (60kD)|GA binding protein transcription factor, alpha subunit 60kDa|GA binding protein transcription factor alpha subunit" ETS transcription factor family 534 1994-01-18 2018-04-23 2023-01-20 2551 ENSG00000154727 OTTHUMG00000078443 uc002ylx.5 NM_002040 CCDS13575 Q06546 8441384 MGI:95610 RGD:1310802 600609 HGNC:4071 "ENST00000400075.4|NM_002040.4" HGNC:4072 GABPAP GABPA pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 "E4TF1|E4TF1B" GABPB1 "GA binding protein transcription factor, beta subunit 1, 53kDa|GA binding protein transcription factor, alpha subunit pseudogene|GA binding protein transcription factor alpha subunit pseudogene" 1998-09-18 2018-04-23 2018-04-23 8327 ENSG00000235720 OTTHUMG00000156550 NG_007342 "8441384|10393246" PGOHUM00000302722 HGNC:4072 -HGNC:4074 GABPB1 GA binding protein transcription factor subunit beta 1 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "E4TF1-47|GABPB" GABPB2 "GA binding protein transcription factor, beta subunit 2|GA binding protein transcription factor beta subunit 1" Ankyrin repeat domain containing 403 1994-01-18 2008-02-25 2018-04-23 2023-01-20 2553 ENSG00000104064 OTTHUMG00000131642 uc001zya.4 D13316 NM_001320910 "CCDS45258|CCDS32239|CCDS10136|CCDS10135" Q06547 7958862 MGI:95611 RGD:1560391 600610 HGNC:4074 "ENST00000380877.8|NM_016654.5" +HGNC:4074 GABPB1 GA binding protein transcription factor subunit beta 1 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "E4TF1-47|GABPB" GABPB2 "GA binding protein transcription factor, beta subunit 2|GA binding protein transcription factor beta subunit 1" Ankyrin repeat domain containing 403 1994-01-18 2008-02-25 2018-04-23 2023-01-20 2553 ENSG00000104064 OTTHUMG00000131642 uc001zya.4 D13316 NM_001320910 "CCDS10135|CCDS32239|CCDS10136|CCDS45258" Q06547 7958862 MGI:95611 RGD:1560391 600610 HGNC:4074 "ENST00000380877.8|NM_016654.5" HGNC:44157 GABPB1-AS1 GABPB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.2 15q21.2 GABPB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-01-15 100129387 ENSG00000244879 OTTHUMG00000172396 uc001zyi.4 NR_024490 24036268 GABPB1-AS1 HGNC:44157 HGNC:25469 GABPB1-IT1 GABPB1 intronic transcript non-coding RNA RNA, long non-coding Approved 15q21.2 15q21.2 FLJ10038 Intronic transcripts 1989 2017-04-19 2019-07-12 55056 ENSG00000285410 NR_026891 31289561 HGNC:25469 -HGNC:28441 GABPB2 GA binding protein transcription factor subunit beta 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MGC29891 GA binding protein transcription factor beta subunit 2 Ankyrin repeat domain containing 403 2008-02-25 2018-04-23 2023-01-20 126626 ENSG00000143458 OTTHUMG00000012193 uc001ewr.3 NM_144618 "CCDS983|CCDS81373" Q8TAK5 7958862 MGI:95612 RGD:1565234 HGNC:28441 "ENST00000368918.8|NM_144618.3" +HGNC:28441 GABPB2 GA binding protein transcription factor subunit beta 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MGC29891 GA binding protein transcription factor beta subunit 2 Ankyrin repeat domain containing 403 2008-02-25 2018-04-23 2023-01-20 126626 ENSG00000143458 OTTHUMG00000012193 uc001ewr.3 NM_144618 "CCDS81373|CCDS983" Q8TAK5 7958862 MGI:95612 RGD:1565234 HGNC:28441 "ENST00000368918.8|NM_144618.3" HGNC:4075 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 protein-coding gene gene with protein product Approved 5q34 05q34 EJM5 GABA(A) receptor, alpha 1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 Gamma-aminobutyric acid type A receptor subunits 563 1989-06-02 2019-11-26 2023-01-20 2554 ENSG00000022355 OTTHUMG00000163586 uc010jix.5 NM_000806.5 CCDS4357 P14867 1330891 MGI:95613 RGD:61855 137160 121989 objectId:404 HGNC:4075 "ENST00000393943.10|NM_001127644.2" HGNC:4075 -HGNC:4076 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 protein-coding gene gene with protein product Approved 4p12 04p12 GABA(A) receptor, alpha 2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 Gamma-aminobutyric acid type A receptor subunits 563 1989-06-02 2019-11-26 2023-01-20 2555 ENSG00000151834 OTTHUMG00000044266 uc062wij.1 NM_000807 "CCDS3471|CCDS82921|CCDS93494" P47869 MGI:95614 RGD:61856 137140 objectId:405 HGNC:4076 "ENST00000381620.9|NM_000807.4" HGNC:4076 +HGNC:4076 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 protein-coding gene gene with protein product Approved 4p12 04p12 GABA(A) receptor, alpha 2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 Gamma-aminobutyric acid type A receptor subunits 563 1989-06-02 2019-11-26 2023-01-20 2555 ENSG00000151834 OTTHUMG00000044266 uc062wij.1 NM_000807 "CCDS3471|CCDS93494|CCDS82921" P47869 MGI:95614 RGD:61856 137140 objectId:405 HGNC:4076 "ENST00000381620.9|NM_000807.4" HGNC:4076 HGNC:4077 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 protein-coding gene gene with protein product Approved Xq28 Xq28 GABA(A) receptor, alpha 3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 "Gamma-aminobutyric acid type A receptor subunits|MicroRNA protein coding host genes" "563|1691" 1989-06-06 2019-11-26 2023-01-20 2556 ENSG00000011677 OTTHUMG00000024183 uc010ntk.2 NM_000808 CCDS14706 P34903 MGI:95615 RGD:2648 305660 199890 objectId:406 HGNC:4077 "ENST00000370314.9|NM_000808.4" HGNC:4078 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 protein-coding gene gene with protein product Approved 4p12 04p12 GABA(A) receptor, alpha 4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 Gamma-aminobutyric acid type A receptor subunits 563 1994-07-15 2019-11-26 2023-01-20 2557 ENSG00000109158 OTTHUMG00000099431 uc003gxg.3 NM_000809 CCDS3473 P48169 7607683 MGI:95616 RGD:621670 137141 objectId:407 HGNC:4078 "ENST00000264318.4|NM_000809.4" HGNC:4079 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 protein-coding gene gene with protein product Approved 15q12 15q12 GABA(A) receptor, alpha 5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 Gamma-aminobutyric acid type A receptor subunits 563 1992-08-07 2019-11-26 2023-01-20 2558 ENSG00000186297 OTTHUMG00000171824 uc001zbd.3 NM_000810 CCDS45194 P31644 1321750 MGI:95617 RGD:61859 137142 objectId:408 HGNC:4079 "ENST00000335625.10|NM_000810.4" HGNC:4079 HGNC:4080 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 protein-coding gene gene with protein product Approved 5q34 05q34 GABA(A) receptor, alpha 6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 Gamma-aminobutyric acid type A receptor subunits 563 1994-04-20 2019-11-26 2023-01-20 2559 ENSG00000145863 OTTHUMG00000130351 uc003lyu.3 NM_000811 CCDS4356 Q16445 8020978 MGI:95618 RGD:61861 137143 objectId:409 HGNC:4080 "ENST00000274545.10|NM_000811.3" HGNC:4081 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 protein-coding gene gene with protein product Approved 4p12 04p12 GABA(A) receptor, beta 1 gamma-aminobutyric acid (GABA) A receptor, beta 1 Gamma-aminobutyric acid type A receptor subunits 563 1989-06-02 2019-11-26 2023-01-20 2560 ENSG00000163288 OTTHUMG00000044269 uc003gxh.4 NM_000812 CCDS3474 P18505 MGI:95619 RGD:2649 137190 470364 objectId:410 HGNC:4081 "ENST00000295454.8|NM_000812.4" HGNC:4081 HGNC:4082 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 protein-coding gene gene with protein product Approved 5q34 05q34 GABA(A) receptor, beta 2 gamma-aminobutyric acid (GABA) A receptor, beta 2 Gamma-aminobutyric acid type A receptor subunits 563 1994-04-29 2019-11-26 2023-01-20 2561 ENSG00000145864 OTTHUMG00000130349 uc063jhc.1 NM_000813 P47870 7851879 MGI:95620 RGD:2650 600232 470366 objectId:411 HGNC:4082 "ENST00000393959.6|NM_001371727.1" HGNC:4082 -HGNC:4083 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 protein-coding gene gene with protein product Approved 15q12 15q12 GABA(A) receptor, beta 3 gamma-aminobutyric acid (GABA) A receptor, beta 3 Gamma-aminobutyric acid type A receptor subunits 563 1991-06-05 2019-11-26 2023-01-20 2562 ENSG00000166206 OTTHUMG00000129231 uc001zaz.5 NM_000814 "CCDS53920|CCDS10019|CCDS10018|CCDS53921" P28472 MGI:95621 RGD:2651 137192 159621 objectId:412 HGNC:4083 "ENST00000311550.10|NM_000814.6" HGNC:4083 +HGNC:4083 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 protein-coding gene gene with protein product Approved 15q12 15q12 GABA(A) receptor, beta 3 gamma-aminobutyric acid (GABA) A receptor, beta 3 Gamma-aminobutyric acid type A receptor subunits 563 1991-06-05 2019-11-26 2023-01-20 2562 ENSG00000166206 OTTHUMG00000129231 uc001zaz.5 NM_000814 "CCDS10018|CCDS53921|CCDS53920|CCDS10019" P28472 MGI:95621 RGD:2651 137192 159621 objectId:412 HGNC:4083 "ENST00000311550.10|NM_000814.6" HGNC:4083 HGNC:4084 GABRD gamma-aminobutyric acid type A receptor subunit delta protein-coding gene gene with protein product Approved 1p36.33 01p36.33 GABA(A) receptor, delta gamma-aminobutyric acid (GABA) A receptor, delta Gamma-aminobutyric acid type A receptor subunits 563 1991-08-06 2019-11-26 2023-01-20 2563 ENSG00000187730 OTTHUMG00000041064 uc001aip.3 BC033801 NM_000815 CCDS36 O14764 "2176788|10965146" MGI:95622 RGD:61901 137163 121991 objectId:416 HGNC:4084 "ENST00000378585.7|NM_000815.5" HGNC:4084 HGNC:4085 GABRE gamma-aminobutyric acid type A receptor subunit epsilon protein-coding gene gene with protein product Approved Xq28 Xq28 GABA(A) receptor, epsilon gamma-aminobutyric acid (GABA) A receptor, epsilon "Gamma-aminobutyric acid type A receptor subunits|MicroRNA protein coding host genes" "563|1691" 1997-03-19 2019-11-26 2023-03-15 2564 ENSG00000102287 OTTHUMG00000024176 uc004ffi.3 Y09765 "NM_004961|NM_021990|NM_021984" CCDS14703 P78334 "9039914|9084408" MGI:1330235 RGD:68320 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GABRE 300093 objectId:417 HGNC:4085 "ENST00000370328.4|NM_004961.4" HGNC:4086 GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 protein-coding gene gene with protein product Approved 4p12 04p12 GABA(A) receptor, gamma gamma-aminobutyric acid (GABA) A receptor, gamma 1 Gamma-aminobutyric acid type A receptor subunits 563 1991-07-09 2019-11-26 2023-01-20 2565 ENSG00000163285 OTTHUMG00000128609 uc003gxb.4 BC031087 NM_173536 CCDS3470 Q8N1C3 1321425 MGI:103156 RGD:621732 137166 objectId:413 HGNC:4086 "ENST00000295452.5|NM_173536.4" HGNC:4087 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 protein-coding gene gene with protein product Approved 5q34 05q34 GABA(A) receptor, gamma 2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 Gamma-aminobutyric acid type A receptor subunits 563 1991-02-26 2019-11-26 2023-01-20 2566 ENSG00000113327 OTTHUMG00000130350 uc003lyy.5 NM_000816 P18507 MGI:95623 RGD:61966 137164 121993 objectId:414 HGNC:4087 "ENST00000639213.2|NM_198904.4" HGNC:4087 HGNC:4088 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 protein-coding gene gene with protein product Approved 15q12 15q12 GABA(G) receptor, gamma 3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 Gamma-aminobutyric acid type A receptor subunits 563 1994-07-15 2019-11-26 2023-01-20 2567 ENSG00000182256 OTTHUMG00000044462 uc001zbg.3 NM_001270873 "CCDS45195|CCDS59251" Q99928 7601451 MGI:95624 RGD:621735 600233 objectId:415 HGNC:4088 "ENST00000615808.5|NM_033223.5" HGNC:40249 GABRG3-AS1 GABRG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q12 15q12 Antisense RNAs 1987 2014-11-21 2014-11-21 101928869 ENSG00000228740 OTTHUMG00000056664 "DB073112|BU567553" NR_120343 GABRG3-AS1 HGNC:40249 -HGNC:4089 GABRP gamma-aminobutyric acid type A receptor subunit pi protein-coding gene gene with protein product Approved 5q35.1 05q35.1 GABA(A) receptor, pi gamma-aminobutyric acid (GABA) A receptor, pi Gamma-aminobutyric acid type A receptor subunits 563 1997-06-18 2019-11-26 2023-01-20 2568 ENSG00000094755 OTTHUMG00000130443 uc003mau.4 U95367 NM_014211 "CCDS75368|CCDS4375" O00591 9182563 MGI:2387597 RGD:620532 602729 objectId:419 HGNC:4089 "ENST00000265294.9|NM_014211.3" +HGNC:4089 GABRP gamma-aminobutyric acid type A receptor subunit pi protein-coding gene gene with protein product Approved 5q35.1 05q35.1 GABA(A) receptor, pi gamma-aminobutyric acid (GABA) A receptor, pi Gamma-aminobutyric acid type A receptor subunits 563 1997-06-18 2019-11-26 2023-01-20 2568 ENSG00000094755 OTTHUMG00000130443 uc003mau.4 U95367 NM_014211 "CCDS4375|CCDS75368" O00591 9182563 MGI:2387597 RGD:620532 602729 objectId:419 HGNC:4089 "ENST00000265294.9|NM_014211.3" HGNC:14454 GABRQ gamma-aminobutyric acid type A receptor subunit theta protein-coding gene gene with protein product Approved Xq28 Xq28 GABA(A) receptor, theta gamma-aminobutyric acid (GABA) receptor, theta Gamma-aminobutyric acid type A receptor subunits 563 2001-01-24 2019-11-26 2023-01-20 55879 ENSG00000268089 OTTHUMG00000022649 uc004ffp.2 U47334 NM_018558 CCDS14707 Q9UN88 "10804200|10449790" MGI:1888498 RGD:68331 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GABRQ 300349 objectId:418 HGNC:14454 "ENST00000598523.3|NM_018558.4" -HGNC:4090 GABRR1 gamma-aminobutyric acid type A receptor subunit rho1 protein-coding gene gene with protein product Approved 6q15 06q15 GABA(A) receptor, rho 1 gamma-aminobutyric acid (GABA) receptor, rho 1 Gamma-aminobutyric acid type A receptor subunits 563 1991-08-08 2019-11-26 2023-01-20 2569 ENSG00000146276 OTTHUMG00000015195 uc003pna.3 NM_001256703 "CCDS59029|CCDS5019|CCDS59028" P24046 "1849271|1315307" MGI:95625 RGD:61900 137161 objectId:420 HGNC:4090 "ENST00000454853.7|NM_002042.5" +HGNC:4090 GABRR1 gamma-aminobutyric acid type A receptor subunit rho1 protein-coding gene gene with protein product Approved 6q15 06q15 GABA(A) receptor, rho 1 gamma-aminobutyric acid (GABA) receptor, rho 1 Gamma-aminobutyric acid type A receptor subunits 563 1991-08-08 2019-11-26 2023-01-20 2569 ENSG00000146276 OTTHUMG00000015195 uc003pna.3 NM_001256703 "CCDS59028|CCDS5019|CCDS59029" P24046 "1849271|1315307" MGI:95625 RGD:61900 137161 objectId:420 HGNC:4090 "ENST00000454853.7|NM_002042.5" HGNC:4091 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 protein-coding gene gene with protein product Approved 6q15 06q15 GABA(A) receptor, rho 2 gamma-aminobutyric acid (GABA) receptor, rho 2 Gamma-aminobutyric acid type A receptor subunits 563 1991-10-22 2019-11-26 2023-01-20 2570 ENSG00000111886 OTTHUMG00000015198 uc003pnb.4 NM_002043 CCDS5020 P28476 1315307 MGI:95626 RGD:61902 137162 objectId:421 HGNC:4091 "ENST00000402938.4|NM_002043.5" HGNC:17969 GABRR3 gamma-aminobutyric acid type A receptor subunit rho3 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 GABA(A) receptor, rho 3 "gamma-aminobutyric acid (GABA) receptor, rho 3|gamma-aminobutyric acid type A receptor subunit rho3 (gene/pseudogene)" Gamma-aminobutyric acid type A receptor subunits 563 2004-07-28 2020-05-01 2023-01-20 200959 ENSG00000183185 OTTHUMG00000159135 uc021xbo.2 Y18994 NM_001105580 CCDS54617 A8MPY1 10542332 MGI:3588203 RGD:621564 618668 objectId:422 HGNC:17969 "ENST00000472788.6|NM_001105580.3" HGNC:48336 GACAT1 gastric cancer associated transcript 1 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 "LINC00876|AC096655.1-002" long intergenic non-protein coding RNA 876 gastric cancer associated transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-05 2018-05-16 2018-05-16 104326057 ENSG00000232991 OTTHUMG00000153313 DB096621 NR_126369 "23645148|24833871" gacat1 GACAT1 HGNC:48336 @@ -9832,7 +9833,7 @@ HGNC:50847 GACAT3 gastric cancer associated transcript 3 non-coding RNA RNA, lon HGNC:4092 GAD1 glutamate decarboxylase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 GAD "glutamate decarboxylase 1 (brain, 67kD)|glutamate decarboxylase 1 (brain, 67kDa)" 1986-01-01 2015-11-05 2023-01-20 2571 ENSG00000128683 OTTHUMG00000044175 uc002ugi.4 NM_000817 "CCDS2240|CCDS2239" Q99259 1549570 MGI:95632 RGD:2652 605363 270043 objectId:1272 4.1.1.15 HGNC:4092 "ENST00000358196.8|NM_000817.3" HGNC:4092 HGNC:4093 GAD2 glutamate decarboxylase 2 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 GAD65 "glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)|glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)" 1991-11-29 2015-11-05 2023-01-20 2572 ENSG00000136750 OTTHUMG00000017836 uc001isp.3 AJ251501 NM_000818 CCDS7149 Q05329 2039509 MGI:95634 RGD:2653 138275 objectId:1273 4.1.1.15 HGNC:4093 "ENST00000376261.8|NM_001134366.2" HGNC:55684 GAD3P glutamate decarboxylase family member 3, pseudogene pseudogene pseudogene Approved 18q21.32 18q21.32 2021-07-02 2021-07-02 105372156 ENSG00000267382 27461130 -HGNC:4095 GADD45A growth arrest and DNA damage inducible alpha protein-coding gene gene with protein product Approved 1p31.3 01p31.3 GADD45 DDIT1 growth arrest and DNA-damage-inducible, alpha 1991-08-17 2015-11-16 2023-01-20 1647 ENSG00000116717 OTTHUMG00000009374 uc001ddz.3 M60974 NM_001924 "CCDS55605|CCDS72806|CCDS640" P24522 "1990262|8226988|30617255" MGI:107799 RGD:2654 126335 HGNC:4095 "ENST00000370986.9|NM_001924.4" +HGNC:4095 GADD45A growth arrest and DNA damage inducible alpha protein-coding gene gene with protein product Approved 1p31.3 01p31.3 GADD45 DDIT1 growth arrest and DNA-damage-inducible, alpha 1991-08-17 2015-11-16 2023-01-20 1647 ENSG00000116717 OTTHUMG00000009374 uc001ddz.3 M60974 NM_001924 "CCDS72806|CCDS55605|CCDS640" P24522 "1990262|8226988|30617255" MGI:107799 RGD:2654 126335 HGNC:4095 "ENST00000370986.9|NM_001924.4" HGNC:2725 GADD45AP1 growth arrest and DNA damage inducible alpha pseudogene 1 pseudogene pseudogene Approved 12q21.32 12q21.32 "DDIT1L|GADD45AL" "DNA-damage-inducible transcript 1-like|growth arrest and DNA-damage-inducible, alpha-like|growth arrest and DNA-damage-inducible, alpha pseudogene 1" 1991-08-17 2010-08-27 2015-11-16 2015-11-16 1648 NG_031939 1990262 HGNC:2725 HGNC:4096 GADD45B growth arrest and DNA damage inducible beta protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "GADD45BETA|DKFZP566B133" "myeloid differentiation primary response|growth arrest and DNA-damage-inducible beta" MYD118 growth arrest and DNA-damage-inducible, beta 1994-01-10 2015-11-16 2023-01-20 4616 ENSG00000099860 OTTHUMG00000180434 uc002lwb.3 AF090950 NM_015675 CCDS32868 O75293 "1899477|9827804" MGI:107776 RGD:1309080 604948 HGNC:4096 "ENST00000215631.9|NM_015675.4" HGNC:4097 GADD45G growth arrest and DNA damage inducible gamma protein-coding gene gene with protein product Approved 9q22.2 09q22.2 "DDIT2|GADD45gamma|GRP17|CR6" "gadd-related protein, 17 kD|growth arrest and DNA-damage-inducible gamma" growth arrest and DNA-damage-inducible, gamma 1999-09-06 2015-11-16 2023-01-20 10912 ENSG00000130222 OTTHUMG00000020187 uc004aqq.4 D83023 NM_006705 CCDS6686 O95257 "9827804|10496071" MGI:1346325 RGD:1311796 604949 469172 HGNC:4097 "ENST00000252506.11|NM_006705.4" @@ -9860,16 +9861,16 @@ HGNC:31908 GAGE12H G antigen 12H protein-coding gene gene with protein product A HGNC:4105 GAGE12I G antigen 12I protein-coding gene gene with protein product Approved Xp11.23 not on reference assembly Xp11.23 not on reference assembly OTTHUMG00000067390 GAGE7B G antigen 7B GAGE family 1845 1999-12-14 2007-07-23 2007-07-23 2015-01-09 26748 AF055474 P0CL82 "10397259|23029259" 300637 HGNC:4105 HGNC:17778 GAGE12J G antigen 12J protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024137 GAGE11 G antigen 11 GAGE family 1845 2006-07-04 2007-07-23 2007-07-23 2023-01-20 729396 ENSG00000224659 OTTHUMG00000024137 uc033edf.2 NM_001098406 CCDS43939 A6NER3 300733 HGNC:17778 "ENST00000442437.3|NM_001098406.4" HGNC:29081 GAGE13 G antigen 13 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024138 GAGE12A G antigen 12A GAGE family 1845 2006-07-04 2007-07-23 2007-07-23 2023-01-20 645051 ENSG00000274274 OTTHUMG00000024138 uc064zft.1 NM_001098412 CCDS48110 Q4V321 300734 HGNC:29081 "ENST00000612958.2|NM_001098412.4" -HGNC:4113 GAK cyclin G associated kinase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 DNAJC26 auxilin-2 "DNAJ (HSP40) heat shock proteins|C2 tensin-type domain containing" "584|837" 1997-01-09 2023-01-20 2580 ENSG00000178950 OTTHUMG00000088301 uc003gbm.6 D88435 NM_005255 "CCDS82902|CCDS3340" O14976 9299234 MGI:2442153 RGD:621589 602052 objectId:2027 HGNC:4113 "ENST00000314167.9|NM_005255.4" +HGNC:4113 GAK cyclin G associated kinase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 DNAJC26 auxilin-2 "DNAJ (HSP40) heat shock proteins|C2 tensin-type domain containing" "584|837" 1997-01-09 2023-01-20 2580 ENSG00000178950 OTTHUMG00000088301 uc003gbm.6 D88435 NM_005255 "CCDS3340|CCDS82902" O14976 9299234 MGI:2442153 RGD:621589 602052 objectId:2027 HGNC:4113 "ENST00000314167.9|NM_005255.4" HGNC:4114 GAL galanin and GMAP prepropeptide protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "GMAP|GAL-GMAP|GLNN" galanin-message-associated peptide GALN galanin Neuropeptides 1902 1993-06-22 2016-04-29 2023-01-20 51083 ENSG00000069482 OTTHUMG00000167890 uc001oob.4 L11144 NM_001479 CCDS8183 P22466 7508413 MGI:95637 RGD:61954 137035 470368 ligandId:3592 HGNC:4114 "ENST00000265643.4|NM_015973.5" HGNC:24240 GAL3ST1 galactose-3-O-sulfotransferase 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 CST cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase Sulfotransferases, membrane bound 763 2004-03-23 2023-01-20 9514 ENSG00000128242 OTTHUMG00000151200 uc062ddw.1 D88667 NM_004861 CCDS13879 Q99999 "9847074|9030544" MGI:1858277 RGD:1583379 602300 HGNC:24240 "ENST00000406361.6|NM_001318104.2" HGNC:24869 GAL3ST2 galactose-3-O-sulfotransferase 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 GP3ST Sulfotransferases, membrane bound 763 2004-03-23 2023-01-20 64090 ENSG00000154252 OTTHUMG00000151473 uc002wcj.2 AB040610 NM_022134 CCDS33427 Q9H3Q3 11029462 "MGI:2685834|MGI:3711964|MGI:3646771" RGD:1593854 608237 HGNC:24869 "ENST00000192314.7|NM_022134.3" HGNC:24144 GAL3ST3 galactose-3-O-sulfotransferase 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 GAL3ST2 Sulfotransferases, membrane bound 763 2004-04-01 2023-01-20 89792 ENSG00000175229 OTTHUMG00000166667 uc001ogw.4 AY026481 NM_033036 CCDS8128 Q96A11 "11323440|11356829" MGI:3617843 RGD:1564991 608234 HGNC:24144 "ENST00000312006.5|NM_033036.3" HGNC:24145 GAL3ST4 galactose-3-O-sulfotransferase 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ12116 Sulfotransferases, membrane bound 763 2004-03-23 2023-01-20 79690 ENSG00000197093 OTTHUMG00000154885 uc003utu.4 AF316113 NM_024637 CCDS5688 Q96RP7 11333265 MGI:1916254 RGD:1561105 608235 HGNC:24145 "ENST00000360039.9|NM_024637.5" -HGNC:4115 GALC galactosylceramidase protein-coding gene gene with protein product Approved 14q31.3 14q31.3 Krabbe disease galactosylceramidase (Krabbe disease) Glycoside hydrolases 1650 1989-06-02 2005-11-29 2023-03-15 2581 ENSG00000054983 OTTHUMG00000028646 uc001xvt.3 L23116 NM_000153 "CCDS55936|CCDS9878|CCDS55937" P54803 MGI:95636 RGD:1359384 606890 121995 3.2.1.46 HGNC:4115 "ENST00000261304.7|NM_000153.4" HGNC:4115 +HGNC:4115 GALC galactosylceramidase protein-coding gene gene with protein product Approved 14q31.3 14q31.3 Krabbe disease galactosylceramidase (Krabbe disease) Glycoside hydrolases 1650 1989-06-02 2005-11-29 2023-03-15 2581 ENSG00000054983 OTTHUMG00000028646 uc001xvt.3 L23116 NM_000153 "CCDS9878|CCDS55936|CCDS55937" P54803 MGI:95636 RGD:1359384 606890 121995 3.2.1.46 HGNC:4115 "ENST00000261304.7|NM_000153.4" HGNC:4115 HGNC:4116 GALE UDP-galactose-4-epimerase protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SDR1E1 "short chain dehydrogenase/reductase family 1E, member 1|UDP-glucose 4-epimerase" galactose-4-epimerase, UDP- Short chain dehydrogenase/reductase superfamily 743 2001-06-22 2004-11-17 2023-01-20 2582 ENSG00000117308 OTTHUMG00000002958 uc001bhx.1 BC050685 NM_000403 CCDS242 Q14376 "8593531|19027726|26162744" MGI:1921496 RGD:621493 606953 121997 5.1.3.2 HGNC:4116 "ENST00000617979.5|NM_001008216.2" HGNC:4116 HGNC:4118 GALK1 galactokinase 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 GALK 1986-01-01 2023-01-20 2584 ENSG00000108479 OTTHUMG00000179832 uc032frw.2 NM_000154 CCDS11728 P51570 7670469 MGI:95730 RGD:1305375 LRG_1430|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1430.xml 604313 121999 2.7.1.6 HGNC:4118 "ENST00000588479.6|NM_000154.2" HGNC:4118 -HGNC:4119 GALK2 galactokinase 2 protein-coding gene gene with protein product Approved 15q21.1-q21.2 15q21.1-q21.2 GK2 1993-01-04 2023-01-20 2585 ENSG00000156958 OTTHUMG00000172325 uc001zxj.3 NM_001001556 "CCDS42034|CCDS32236|CCDS73724" Q01415 MGI:1917226 RGD:1308691 137028 2.7.1.6 HGNC:4119 "ENST00000560031.6|NM_002044.4" +HGNC:4119 GALK2 galactokinase 2 protein-coding gene gene with protein product Approved 15q21.1-q21.2 15q21.1-q21.2 GK2 1993-01-04 2023-01-20 2585 ENSG00000156958 OTTHUMG00000172325 uc001zxj.3 NM_001001556 "CCDS32236|CCDS42034|CCDS73724" Q01415 MGI:1917226 RGD:1308691 137028 2.7.1.6 HGNC:4119 "ENST00000560031.6|NM_002044.4" HGNC:24063 GALM galactose mutarotase protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "aldose 1-epimerase|aldose mutarotase|galactomutarotase" 2004-01-13 2016-05-26 2023-01-20 130589 ENSG00000143891 OTTHUMG00000102077 uc002rqy.4 NM_138801 CCDS1797 Q96C23 12753898 MGI:2442420 RGD:1359459 137030 5.1.3.3 HGNC:24063 "ENST00000272252.10|NM_138801.3" HGNC:24063 HGNC:4122 GALNS galactosamine (N-acetyl)-6-sulfatase protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "GAS|GALNAC6S|GalN6S" "Morquio syndrome|mucopolysaccharidosis type IVA|N-acetylgalactosamine-6-sulfatase|chondroitinase|chondroitinsulfatase|galactose-6-sulfate sulfatase" galactosamine (N-acetyl)-6-sulfate sulfatase Sulfatases 410 1992-02-21 2014-07-03 2023-01-20 2588 ENSG00000141012 OTTHUMG00000137862 uc002fly.4 D17629 NM_000512 CCDS10970 P34059 1755850 MGI:1355303 RGD:1565391 612222 122002 objectId:2765 3.1.6.4 HGNC:4122 "ENST00000268695.10|NM_000512.5" HGNC:4122 HGNC:4123 GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 GalNAc-T1 "protein-UDP acetylgalactosaminyltransferase 1|polypeptide GalNAc transferase 1" UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) "Polypeptide N-acetylgalactosaminyltransferases|MicroRNA protein coding host genes" "433|1691" 1996-10-26 2014-03-13 2023-01-20 2589 ENSG00000141429 OTTHUMG00000132567 uc002kzb.4 NM_020474 CCDS11915 Q10472 "7592619|12199709" MGI:894693 RGD:620358 602273 2.4.1.41 HGNC:4123 "ENST00000269195.6|NM_020474.4" @@ -9878,7 +9879,7 @@ HGNC:4125 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 protein-coding HGNC:4126 GALNT4 polypeptide N-acetylgalactosaminyltransferase 4 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 GalNAc-T4 polypeptide GalNAc transferase 4 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) Polypeptide N-acetylgalactosaminyltransferases 433 1998-11-13 2014-03-13 2023-01-20 8693 ENSG00000257594 OTTHUMG00000166292 uc001tbd.4 Y08564 NM_003774 CCDS53817 Q8N4A0 9804815 MGI:894692 RGD:1564589 603565 2.4.1.41 HGNC:4126 "ENST00000529983.3|NM_003774.5" HGNC:4127 GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 GalNAc-T5 polypeptide GalNAc transferase 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) Polypeptide N-acetylgalactosaminyltransferases 433 1999-09-16 2014-03-13 2023-01-20 11227 ENSG00000136542 OTTHUMG00000131965 uc002tzg.4 AJ245539 NM_014568 CCDS2203 Q7Z7M9 10545594 MGI:2179403 RGD:620361 615129 2.4.1.41 HGNC:4127 "ENST00000259056.5|NM_014568.3" HGNC:4128 GALNT6 polypeptide N-acetylgalactosaminyltransferase 6 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 GalNAc-T6 polypeptide GalNAc transferase 6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) Polypeptide N-acetylgalactosaminyltransferases 433 1999-09-16 2014-03-13 2023-01-20 11226 ENSG00000139629 OTTHUMG00000185181 uc001ryl.2 Y08565 NM_007210 CCDS8813 Q8NCL4 10464263 MGI:1891640 RGD:2319726 605148 HGNC:4128 "ENST00000356317.8|NM_007210.4" -HGNC:4129 GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 GALNAC-T7 polypeptide GalNAc transferase 7 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) "Polypeptide N-acetylgalactosaminyltransferases|MicroRNA protein coding host genes" "433|1691" 1999-09-16 2014-03-13 2023-01-20 51809 ENSG00000109586 OTTHUMG00000160817 uc003isz.4 AJ002744 NM_017423 "CCDS93669|CCDS3815" Q86SF2 10544240 MGI:1349449 RGD:620362 605005 HGNC:4129 "ENST00000265000.9|NM_017423.3" +HGNC:4129 GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 GALNAC-T7 polypeptide GalNAc transferase 7 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) "Polypeptide N-acetylgalactosaminyltransferases|MicroRNA protein coding host genes" "433|1691" 1999-09-16 2014-03-13 2023-01-20 51809 ENSG00000109586 OTTHUMG00000160817 uc003isz.4 AJ002744 NM_017423 "CCDS3815|CCDS93669" Q86SF2 10544240 MGI:1349449 RGD:620362 605005 HGNC:4129 "ENST00000265000.9|NM_017423.3" HGNC:55604 GALNT7-DT GALNT7 divergent transcript non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 Divergent transcripts 1990 2021-06-07 2023-01-09 101930370 ENSG00000245213 NR_134241 30041193 HGNC:4130 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 GALNAC-T8 polypeptide GalNAc transferase 8 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) Polypeptide N-acetylgalactosaminyltransferases 433 1999-11-26 2014-03-13 2023-01-20 26290 ENSG00000130035 OTTHUMG00000166188 uc001qne.2 AJ271385 NM_017417 CCDS8533 Q9NY28 10767557 RGD:9174049 606250 2.4.1.41 HGNC:4130 "ENST00000252318.7|NM_017417.2" HGNC:4131 GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 GALNAC-T9 polypeptide GalNAc transferase 9 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) Polypeptide N-acetylgalactosaminyltransferases 433 2000-03-29 2014-03-13 2023-01-20 50614 ENSG00000182870 OTTHUMG00000168256 uc001ukc.5 AB040672 NM_001122636 "CCDS41866|CCDS81755" Q9HCQ5 "10978536|12407114" MGI:2677965 RGD:1311523 606251 2.4.1.41 HGNC:4131 "ENST00000328957.13|NM_001122636.2" @@ -9886,9 +9887,9 @@ HGNC:56353 GALNT9-AS1 GALNT9 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:19873 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 GalNAc-T10 polypeptide GalNAc transferase 10 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) "Polypeptide N-acetylgalactosaminyltransferases|MicroRNA protein coding host genes" "433|1691" 2002-11-28 2014-03-13 2023-03-15 55568 ENSG00000164574 OTTHUMG00000130145 uc003lvh.4 AK023782 NM_198321 CCDS4325 Q86SR1 12417297 MGI:1890480 RGD:69409 608043 2.4.1.41 HGNC:19873 "ENST00000297107.11|NM_198321.4" HGNC:19875 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 GalNAc-T11 polypeptide GalNAc transferase 11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) Polypeptide N-acetylgalactosaminyltransferases 433 2002-11-28 2014-05-09 2023-01-20 63917 ENSG00000178234 OTTHUMG00000157251 uc010lqg.2 AC006017 NM_022087 "CCDS5930|CCDS94237" Q8NCW6 11925450 MGI:2444392 RGD:735097 615130 470370 2.4.1.41 HGNC:19875 "ENST00000430044.7|NM_022087.4" HGNC:19877 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 GalNAc-T12 polypeptide GalNAc transferase 12 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) Polypeptide N-acetylgalactosaminyltransferases 433 2002-11-28 2014-03-13 2023-01-20 79695 ENSG00000119514 OTTHUMG00000020348 uc004ayz.3 AB078146 NM_024642 CCDS6737 Q8IXK2 12135769 MGI:2444664 RGD:1562001 610290 469175 2.4.1.41 HGNC:19877 "ENST00000375011.4|NM_024642.5" HGNC:19877 -HGNC:23242 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 protein-coding gene gene with protein product Approved 2q23.3-q24.1 02q23.3-q24.1 "KIAA1918|GalNAc-T13" "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13|polypeptide GalNAc transferase 13" UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) Polypeptide N-acetylgalactosaminyltransferases 433 2003-12-02 2014-03-13 2023-01-20 114805 ENSG00000144278 OTTHUMG00000131917 uc002tyr.5 AB067505 NM_052917 "CCDS77472|CCDS2199" Q8IUC8 "11572484|12407114" MGI:2139447 RGD:735044 608369 2.4.1.41 HGNC:23242 "ENST00000392825.8|NM_052917.4" +HGNC:23242 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 protein-coding gene gene with protein product Approved 2q23.3-q24.1 02q23.3-q24.1 "KIAA1918|GalNAc-T13" "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13|polypeptide GalNAc transferase 13" UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) Polypeptide N-acetylgalactosaminyltransferases 433 2003-12-02 2014-03-13 2023-01-20 114805 ENSG00000144278 OTTHUMG00000131917 uc002tyr.5 AB067505 NM_052917 "CCDS2199|CCDS77472" Q8IUC8 "11572484|12407114" MGI:2139447 RGD:735044 608369 2.4.1.41 HGNC:23242 "ENST00000392825.8|NM_052917.4" HGNC:56700 GALNT13-AS1 GALNT13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.1 02q24.1 AC009227.1 2023-01-18 2023-01-18 100144595 ENSG00000224675 NR_161181 33454543 -HGNC:22946 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 "GalNac-T10|FLJ12691|GalNac-T14" polypeptide GalNAc transferase 14 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) Polypeptide N-acetylgalactosaminyltransferases 433 2003-11-13 2014-03-13 2023-01-20 79623 ENSG00000158089 OTTHUMG00000074077 uc002rnr.4 AB078144 NM_024572 "CCDS58706|CCDS58705|CCDS1773" Q96FL9 12507512 MGI:1918935 RGD:1310068 608225 2.4.1.41 HGNC:22946 "ENST00000349752.10|NM_024572.4" +HGNC:22946 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 "GalNac-T10|FLJ12691|GalNac-T14" polypeptide GalNAc transferase 14 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) Polypeptide N-acetylgalactosaminyltransferases 433 2003-11-13 2014-03-13 2023-01-20 79623 ENSG00000158089 OTTHUMG00000074077 uc002rnr.4 AB078144 NM_024572 "CCDS58705|CCDS58706|CCDS1773" Q96FL9 12507512 MGI:1918935 RGD:1310068 608225 2.4.1.41 HGNC:22946 "ENST00000349752.10|NM_024572.4" HGNC:21531 GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "GALNT7|pp-GalNAc-T15" polypeptide GalNAc transferase 15 GALNTL2 "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15" Polypeptide N-acetylgalactosaminyltransferases 433 2004-03-11 2013-01-25 2014-03-13 2023-01-20 117248 ENSG00000131386 OTTHUMG00000156893 uc003car.5 AY358443 NM_054110 "CCDS82742|CCDS33711" Q8N3T1 15147861 MGI:1926004 RGD:2322081 615131 2.4.1.41 HGNC:21531 "ENST00000339732.10|NM_054110.5" HGNC:23233 GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "KIAA1130|GalNAc-T16" polypeptide GalNAc transferase 16 GALNTL1 "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16" Polypeptide N-acetylgalactosaminyltransferases 433 2003-10-30 2013-01-25 2014-03-13 2023-01-20 57452 ENSG00000100626 OTTHUMG00000171231 uc001xlb.3 AB032956 NM_001168368 CCDS32107 Q8N428 "10574461|22186971" MGI:1917754 RGD:1310202 615132 2.4.1.41 HGNC:23233 "ENST00000448469.8|NM_001168368.2" HGNC:55435 GALNT16-AS1 GALNT16 and EXD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.1 14q24.1 Antisense RNAs 1987 2021-01-14 2021-01-14 105370550 ENSG00000258957 NR_184249 @@ -9897,19 +9898,19 @@ HGNC:30488 GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 protein-codi HGNC:21725 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 GalNAc-T5L polypeptide GalNAc transferase-like 5 GALNT15 "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5" Polypeptide N-acetylgalactosaminyltransferases 433 2003-07-14 2004-07-28 2017-06-13 2023-01-20 168391 ENSG00000106648 OTTHUMG00000157306 uc064jlp.1 AF440400 NM_145292 CCDS5929 Q7Z4T8 MGI:1915159 RGD:1565271 615133 HGNC:21725 "ENST00000392800.7|NM_145292.4" HGNC:33844 GALNTL6 polypeptide N-acetylgalactosaminyltransferase like 6 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 "GALNT17|GalNAc-T6L" polypeptide GalNAc transferase-like 6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 Polypeptide N-acetylgalactosaminyltransferases 433 2008-10-09 2017-06-13 2023-01-20 442117 ENSG00000174473 OTTHUMG00000160807 uc003isv.4 NM_001034845 CCDS34104 Q49A17 MGI:1913581 RGD:1564773 615138 HGNC:33844 "ENST00000506823.6|NM_001034845.3" HGNC:54079 GALNTL6-AS1 GALNTL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 Antisense RNAs 1987 2018-09-28 2018-09-28 101928314 NR_125894 HGNC:54079 -HGNC:24840 GALP galanin like peptide protein-coding gene gene with protein product Approved 19q13.43 19q13.43 GAL Neuropeptides 1902 2007-08-24 2015-11-16 2023-05-19 85569 ENSG00000197487 OTTHUMG00000181826 uc002qmo.1 AF188493 NM_033106 "CCDS12940|CCDS46202" Q9UBC7 10601261 MGI:2663979 RGD:620187 611178 ligandId:3594 HGNC:24840 "ENST00000357330.7|NM_033106.4" +HGNC:24840 GALP galanin like peptide protein-coding gene gene with protein product Approved 19q13.43 19q13.43 GAL Neuropeptides 1902 2007-08-24 2015-11-16 2023-05-19 85569 ENSG00000197487 OTTHUMG00000181826 uc002qmo.1 AF188493 NM_033106 "CCDS46202|CCDS12940" Q9UBC7 10601261 MGI:2663979 RGD:620187 611178 ligandId:3594 HGNC:24840 "ENST00000357330.7|NM_033106.4" HGNC:4132 GALR1 galanin receptor 1 protein-coding gene gene with protein product Approved 18q23 18q23 "GALNR1|GALNR" Galanin receptors 226 1994-12-19 2023-01-20 2587 ENSG00000166573 OTTHUMG00000132875 uc002lms.5 U90658 NM_001480 CCDS12012 P47211 7524088 MGI:1096364 RGD:2656 600377 objectId:243 HGNC:4132 "ENST00000299727.5|NM_001480.4" HGNC:4133 GALR2 galanin receptor 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 GALNR2 Galanin receptors 226 1998-12-17 2023-01-20 8811 ENSG00000182687 OTTHUMG00000167479 uc002jqm.3 AF040630 NM_003857 CCDS11739 O43603 "9685625|9832121" MGI:1337018 RGD:2657 603691 objectId:244 HGNC:4133 "ENST00000329003.4|NM_003857.4" HGNC:4134 GALR3 galanin receptor 3 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Galanin receptors 226 1998-12-17 2023-01-20 8484 ENSG00000128310 OTTHUMG00000150658 uc003aub.1 AF073799 NM_003614 CCDS13958 O60755 "9722565|9832121" MGI:1329003 RGD:2658 603692 objectId:245 HGNC:4134 "ENST00000249041.3|NM_003614.2" -HGNC:4135 GALT galactose-1-phosphate uridylyltransferase protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Histidine triad superfamily 1811 2001-06-22 2023-03-15 2592 ENSG00000213930 OTTHUMG00000019836 uc003zve.5 M60091 NM_000155 "CCDS59122|CCDS6565" P07902 MGI:95638 RGD:1306483 Galactose-1-Phosphate Uridyl Transferase (GALT) Mutation Database|http://arup.utah.edu/database/GALT/GALT_welcome.php 606999 122009 2.7.7.12 HGNC:4135 "ENST00000378842.8|NM_000155.4" HGNC:4135 -HGNC:4136 GAMT guanidinoacetate N-methyltransferase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PIG2|TP53I2" 7BS small molecule methyltransferases 2063 1996-07-19 2023-01-20 2593 ENSG00000130005 OTTHUMG00000180095 uc002lsj.5 Z49878 NM_138924 "CCDS12064|CCDS45897" Q14353 "9570966|8547310" MGI:1098221 RGD:2659 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GAMT 601240 122011 HGNC:4136 "ENST00000252288.8|NM_000156.6" HGNC:4136 +HGNC:4135 GALT galactose-1-phosphate uridylyltransferase protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Histidine triad superfamily 1811 2001-06-22 2023-03-15 2592 ENSG00000213930 OTTHUMG00000019836 uc003zve.5 M60091 NM_000155 "CCDS6565|CCDS59122" P07902 MGI:95638 RGD:1306483 Galactose-1-Phosphate Uridyl Transferase (GALT) Mutation Database|http://arup.utah.edu/database/GALT/GALT_welcome.php 606999 122009 2.7.7.12 HGNC:4135 "ENST00000378842.8|NM_000155.4" HGNC:4135 +HGNC:4136 GAMT guanidinoacetate N-methyltransferase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PIG2|TP53I2" 7BS small molecule methyltransferases 2063 1996-07-19 2023-01-20 2593 ENSG00000130005 OTTHUMG00000180095 uc002lsj.5 Z49878 NM_138924 "CCDS45897|CCDS12064" Q14353 "9570966|8547310" MGI:1098221 RGD:2659 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GAMT 601240 122011 HGNC:4136 "ENST00000252288.8|NM_000156.6" HGNC:4136 HGNC:33982 GAMTP1 guanidinoacetate N-methyltransferase pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 GAMTP guanidinoacetate N-methyltransferase pseudogene 2008-01-31 2010-01-19 2010-01-19 2014-11-18 391491 NG_007653.2 PGOHUM00000240553 HGNC:33982 HGNC:37697 GAMTP2 guanidinoacetate N-methyltransferase pseudogene 2 pseudogene pseudogene Approved 13q13.2 13q13.2 2010-01-19 2017-03-22 100129452 ENSG00000231910 OTTHUMG00000016719 NG_016563 PGOHUM00000291918 HGNC:37697 HGNC:4137 GAN gigaxonin protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "GAN1|KLHL16|GIG" kelch-like family member 16 giant axonal neuropathy (gigaxonin) "Kelch like|BTB domain containing" "617|861" 1998-09-14 2008-08-01 2023-01-20 8139 ENSG00000261609 OTTHUMG00000137627 uc002fgo.4 AF291673 NM_001377486 CCDS10935 Q9H2C0 "9450783|11062483" MGI:1890619 RGD:1307766 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_242|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_242.xml" 605379 122015 HGNC:4137 "ENST00000648994.2|NM_022041.4" HGNC:4137 -HGNC:4138 GANAB glucosidase II alpha subunit protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "GluII|G2AN|KIAA0088|GIIA" neutral alpha-glucosidase AB glucosidase, alpha; neutral AB Glycoside hydrolase family 31 1413 2001-06-22 2016-03-10 2023-01-20 23193 ENSG00000089597 OTTHUMG00000167696 uc001nub.5 AF144074 NM_198334 "CCDS60818|CCDS8026|CCDS41656|CCDS60817" Q14697 "6342981|3881423|10764838" MGI:1097667 RGD:1309775 104160 461381 3.2.1.84 HGNC:4138 "ENST00000356638.8|NM_198334.3" HGNC:4138 -HGNC:4139 GANC glucosidase alpha, neutral C protein-coding gene gene with protein product Approved 15q15.1 15q15.1 glucosidase, alpha; neutral C Glycoside hydrolase family 31 1413 2001-06-22 2016-03-30 2023-01-20 2595 ENSG00000214013 OTTHUMG00000130487 uc001zpi.4 AF545045 NM_198141 "CCDS76737|CCDS10084|CCDS76738" Q8TET4 "6995030|12370436" MGI:1923301 RGD:2660 104180 3.2.1.20 HGNC:4139 "ENST00000318010.13|NM_198141.3" +HGNC:4138 GANAB glucosidase II alpha subunit protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "GluII|G2AN|KIAA0088|GIIA" neutral alpha-glucosidase AB glucosidase, alpha; neutral AB Glycoside hydrolase family 31 1413 2001-06-22 2016-03-10 2023-01-20 23193 ENSG00000089597 OTTHUMG00000167696 uc001nub.5 AF144074 NM_198334 "CCDS8026|CCDS60817|CCDS60818|CCDS41656" Q14697 "6342981|3881423|10764838" MGI:1097667 RGD:1309775 104160 461381 3.2.1.84 HGNC:4138 "ENST00000356638.8|NM_198334.3" HGNC:4138 +HGNC:4139 GANC glucosidase alpha, neutral C protein-coding gene gene with protein product Approved 15q15.1 15q15.1 glucosidase, alpha; neutral C Glycoside hydrolase family 31 1413 2001-06-22 2016-03-30 2023-01-20 2595 ENSG00000214013 OTTHUMG00000130487 uc001zpi.4 AF545045 NM_198141 "CCDS76738|CCDS10084|CCDS76737" Q8TET4 "6995030|12370436" MGI:1923301 RGD:2660 104180 3.2.1.20 HGNC:4139 "ENST00000318010.13|NM_198141.3" HGNC:4140 GAP43 growth associated protein 43 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "B-50|PP46|GAP-43" "neuron growth-associated protein 43|neuromodulin|nerve growth-related peptide GAP43|axonal membrane protein GAP-43|protein F1|calmodulin-binding protein P-57|neural phosphoprotein B-50" 1990-07-10 2023-01-20 2596 ENSG00000172020 OTTHUMG00000133758 uc003ebq.3 NM_002045 "CCDS46890|CCDS33830" P17677 "3272162|8231732" MGI:95639 RGD:62071 162060 470372 HGNC:4140 "ENST00000305124.11|NM_002045.4" -HGNC:4141 GAPDH glyceraldehyde-3-phosphate dehydrogenase protein-coding gene gene with protein product Approved 12p13.31 12p13.31 GAPD 2001-06-22 2005-05-06 2023-01-20 2597 ENSG00000111640 OTTHUMG00000137379 uc001qop.4 AF261085 NM_002046 "CCDS8549|CCDS58201" P04406 3170585 MGI:95640 RGD:2661 138400 1.2.1.12 HGNC:4141 "ENST00000229239.10|NM_002046.7" +HGNC:4141 GAPDH glyceraldehyde-3-phosphate dehydrogenase protein-coding gene gene with protein product Approved 12p13.31 12p13.31 GAPD 2001-06-22 2005-05-06 2023-01-20 2597 ENSG00000111640 OTTHUMG00000137379 uc001qop.4 AF261085 NM_002046 "CCDS58201|CCDS8549" P04406 3170585 MGI:95640 RGD:2661 138400 1.2.1.12 HGNC:4141 "ENST00000229239.10|NM_002046.7" HGNC:55492 GAPDH-DT GAPDH divergent transcript non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 Divergent transcripts 1990 2021-03-12 2021-03-12 112268089 ENSG00000255966 XR_002957397 HGNC:4159 GAPDHP1 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 "GAPDP1|GAPDHL2|GAPDL2" glyceraldehyde-3-phosphate dehydrogenase-like 2 2001-06-22 2005-05-06 2014-11-19 2616 ENSG00000228232 OTTHUMG00000024098 M26873 NG_001123 6542494 PGOHUM00000241240 HGNC:4159 HGNC:16577 GAPDHP2 glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 pseudogene pseudogene Approved 20p12.1 20p12.1 dJ585I14.1 GAPDP2 2001-09-17 2005-05-06 2014-11-19 170516 ENSG00000236811 OTTHUMG00000031903 AL121782 NG_001038 PGOHUM00000247595 HGNC:16577 @@ -9979,18 +9980,18 @@ HGNC:55049 GAPDHP77 GAPDH pseudogene 77 pseudogene pseudogene Approved Xq22.3 Xq HGNC:24864 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "GAPDH-2|GAPD2" GAPDS 2004-02-10 2005-05-06 2023-01-20 26330 ENSG00000105679 OTTHUMG00000182298 uc002oaf.2 AJ005371 NM_014364 CCDS12465 O14556 10714828 MGI:95653 RGD:620150 609169 HGNC:24864 "ENST00000222286.9|NM_014364.5" HGNC:51308 GAPLINC gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 "TCONS_00026238|lncRNA-uc002kmd.1|RP11-838N2.4" gastric adenocarcinoma predictive long intergenic noncoding RNA LINC01540 long intergenic non-protein coding RNA 1540 Long non-coding RNAs with non-systematic symbols 1992 2014-09-26 2015-02-12 2015-02-12 2018-06-08 100505592 ENSG00000266835 OTTHUMG00000178331 "BM782281|AJ707365" NR_110429 "25277524|27729869|26974151" GAPLINC HGNC:51308 HGNC:26588 GAPT GRB2 binding adaptor protein, transmembrane protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FLJ33641 GRB2-binding transmembrane adaptor C5orf29 chromosome 5 open reading frame 29 2006-08-11 2008-10-07 2016-09-08 2023-01-20 202309 ENSG00000175857 OTTHUMG00000131219 uc003jro.2 AK090960 NM_152687 CCDS3975 Q8N292 MGI:3608341 RGD:1586621 HGNC:26588 "ENST00000502276.6|NM_001304431.2" -HGNC:23375 GAPVD1 GTPase activating protein and VPS9 domains 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "DKFZP434C212|KIAA1521" VPS9 domain containing 928 2005-03-22 2023-01-20 26130 ENSG00000165219 OTTHUMG00000020678 uc004bps.4 NM_001282679 "CCDS87689|CCDS65131|CCDS65132|CCDS35138|CCDS83413|CCDS83414|CCDS65130" Q14C86 MGI:1913941 RGD:1307479 611714 HGNC:23375 "ENST00000297933.11|NM_001282680.3" HGNC:23375 +HGNC:23375 GAPVD1 GTPase activating protein and VPS9 domains 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "DKFZP434C212|KIAA1521" VPS9 domain containing 928 2005-03-22 2023-01-20 26130 ENSG00000165219 OTTHUMG00000020678 uc004bps.4 NM_001282679 "CCDS65131|CCDS87689|CCDS65132|CCDS65130|CCDS35138|CCDS83413|CCDS83414" Q14C86 MGI:1913941 RGD:1307479 611714 HGNC:23375 "ENST00000297933.11|NM_001282680.3" HGNC:23375 HGNC:14264 GAR1 GAR1 ribonucleoprotein protein-coding gene gene with protein product Approved 4q25 04q25 NOLA1 "nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)|GAR1 ribonucleoprotein homolog (yeast)" H/ACA ribonucleoprotein complex 1221 2001-02-06 2008-10-13 2016-02-17 2023-01-20 54433 ENSG00000109534 OTTHUMG00000161108 uc003hzu.4 AJ276003 NM_018983 CCDS34050 Q9NY12 10757788 MGI:1930948 RGD:1563995 606468 HGNC:14264 "ENST00000226796.7|NM_018983.4" HGNC:55191 GAR1-DT GAR1 divergent transcript non-coding RNA RNA, long non-coding Approved 4q25 04q25 Divergent transcripts 1990 2020-08-13 2020-08-13 118568816 ENSG00000272795 HGNC:26136 GAREM1 GRB2 associated regulator of MAPK1 subtype 1 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 FLJ21610 Grb2-associated and regulator of Erk/MAPK "C18orf11|FAM59A|GAREM" "chromosome 18 open reading frame 11|family with sequence similarity 59, member A|GRB2 associated, regulator of MAPK1" 2004-01-13 2015-11-06 2015-11-19 2023-01-20 64762 ENSG00000141441 OTTHUMG00000132273 uc002kxk.3 AK025263 NM_022751 "CCDS11905|CCDS56057" Q9H706 19509291 MGI:2685790 RGD:1591842 617998 HGNC:26136 "ENST00000269209.7|NM_001242409.2" -HGNC:27172 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "KIAA2038|FLJ00375" "FAM59B|GAREML" "family with sequence similarity 59, member B|GRB2 associated, regulator of MAPK1-like" 2005-04-07 2015-11-06 2015-11-19 2023-01-20 150946 ENSG00000157833 OTTHUMG00000151935 uc002rgw.2 "AK090454|AB015349|AB124552" NM_001168241 "CCDS54336|CCDS54337" Q75VX8 24003223 MGI:2685290 RGD:1597138 617999 HGNC:27172 "ENST00000401533.7|NM_001168241.2" +HGNC:27172 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "KIAA2038|FLJ00375" "FAM59B|GAREML" "family with sequence similarity 59, member B|GRB2 associated, regulator of MAPK1-like" 2005-04-07 2015-11-06 2015-11-19 2023-01-20 150946 ENSG00000157833 OTTHUMG00000151935 uc002rgw.2 "AK090454|AB015349|AB124552" NM_001168241 "CCDS54337|CCDS54336" Q75VX8 24003223 MGI:2685290 RGD:1597138 617999 HGNC:27172 "ENST00000401533.7|NM_001168241.2" HGNC:27998 GARIN1A golgi associated RAB2 interactor 1A protein-coding gene gene with protein product Approved 7q32.1 07q32.1 GARI Golgi-associated RAB2B interactor "FAM137B|FAM71F2" "family with sequence similarity 137, member B|family with sequence similarity 71 member F2" 2007-07-24 2021-11-25 2021-11-25 2023-01-20 346653 ENSG00000205085 OTTHUMG00000158275 uc003vnk.6 BC047310 NM_001012454 "CCDS47701|CCDS47702" Q6NXP2 34714330 MGI:2141439 RGD:1561814 619904 HGNC:27998 "ENST00000682356.1|NM_001128926.4" HGNC:30704 GARIN1B golgi associated RAB2 interactor 1B protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "NYD-SP18|GARI-L1" Golgi-associated RAB2B interactor like 1 "FAM137A|FAM71F1" "family with sequence similarity 137, member A|family with sequence similarity 71 member F1" 2007-07-24 2021-11-25 2021-11-25 2023-01-20 84691 ENSG00000135248 OTTHUMG00000158276 uc003vno.3 AF367470 NM_032599 "CCDS5804|CCDS94192|CCDS64763" Q96KD3 34714330 MGI:3032524 RGD:1564147 619905 HGNC:30704 "ENST00000621392.5|NM_001282788.3" -HGNC:20101 GARIN2 golgi associated RAB2 interactor family member 2 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 GARI-L2 "C14orf54|FAM71D" "chromosome 14 open reading frame 54|family with sequence similarity 71, member D|family with sequence similarity 71 member D" 2003-01-13 2021-11-25 2021-11-25 2023-01-20 161142 ENSG00000172717 OTTHUMG00000142819 uc001xja.2 NM_173526 "CCDS91889|CCDS9778" Q8N9W8 "29025071|18256213" MGI:1918147 RGD:1564393 619898 HGNC:20101 "ENST00000696955.1|NM_001395907.1" +HGNC:20101 GARIN2 golgi associated RAB2 interactor family member 2 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 GARI-L2 "C14orf54|FAM71D" "chromosome 14 open reading frame 54|family with sequence similarity 71, member D|family with sequence similarity 71 member D" 2003-01-13 2021-11-25 2021-11-25 2023-01-20 161142 ENSG00000172717 OTTHUMG00000142819 uc001xja.2 NM_173526 "CCDS9778|CCDS91889" Q8N9W8 "29025071|18256213" MGI:1918147 RGD:1564393 619898 HGNC:20101 "ENST00000696955.1|NM_001395907.1" HGNC:28397 GARIN3 golgi associated RAB2B interactor family member 3 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "MGC26988|GARI-L3" FAM71B "family with sequence similarity 71, member B|family with sequence similarity 71 member B" 2005-05-31 2021-11-25 2021-11-25 2023-01-20 153745 ENSG00000170613 OTTHUMG00000130246 uc003lwn.4 NM_130899 CCDS4335 Q8TC56 "17103222|25609838|18256213" MGI:3650836 RGD:1563555 619883 HGNC:28397 "ENST00000302938.4|NM_130899.3" HGNC:49805 GARIN3P1 GARIN3 pseudogene 1 pseudogene pseudogene Approved 9p21.2 09p21.2 FAM71BP1 family with sequence similarity 71 member B pseudogene 1 2014-03-06 2022-01-14 2022-01-14 2022-01-14 100421478 ENSG00000270683 OTTHUMG00000184661 NG_023885 PGOHUM00000304136 HGNC:49805 HGNC:26541 GARIN4 golgi associated RAB2 interactor family member 4 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "FLJ32796|GARI-L4" Golgi-associated Rab2B interactor-like 4 FAM71A "family with sequence similarity 71, member A|family with sequence similarity 71 member A" 2005-05-31 2021-11-25 2021-11-25 2023-01-20 149647 ENSG00000162771 OTTHUMG00000041084 uc001hjk.4 NM_153606 CCDS1507 Q8IYT1 26209634 MGI:3588202 RGD:1561646 619852 HGNC:26541 "ENST00000294829.5|NM_153606.4" HGNC:26541 -HGNC:25107 GARIN5A golgi associated RAB2 interactor 5A protein-coding gene gene with protein product Approved 19q13.33 19q13.33 GARIL5 GARI like 5 FAM71E1 "family with sequence similarity 71, member E1|family with sequence similarity 71 member E1" 2007-11-20 2021-11-25 2021-11-25 2023-01-20 112703 ENSG00000142530 OTTHUMG00000183041 uc002psh.4 NM_001308429 "CCDS77337|CCDS33081" Q6IPT2 28930687 MGI:1922788 RGD:1311142 619890 HGNC:25107 "ENST00000600100.6|NM_001308429.2" +HGNC:25107 GARIN5A golgi associated RAB2 interactor 5A protein-coding gene gene with protein product Approved 19q13.33 19q13.33 GARIL5 GARI like 5 FAM71E1 "family with sequence similarity 71, member E1|family with sequence similarity 71 member E1" 2007-11-20 2021-11-25 2021-11-25 2023-01-20 112703 ENSG00000142530 OTTHUMG00000183041 uc002psh.4 NM_001308429 "CCDS33081|CCDS77337" Q6IPT2 28930687 MGI:1922788 RGD:1311142 619890 HGNC:25107 "ENST00000600100.6|NM_001308429.2" HGNC:25278 GARIN5B golgi associated RAB2 interactor family member 5B protein-coding gene gene with protein product Approved 19q13.42 19q13.42 DKFZp434G1729 "C19orf16|FAM71E2" "chromosome 19 open reading frame 16|family with sequence similarity 71, member E2|family with sequence similarity 71 member E2" 2004-02-11 2021-11-25 2021-11-25 2023-03-15 284418 ENSG00000180043 OTTHUMG00000170357 uc002qkr.3 AL834316 NM_001145402 Q8N5Q1 MGI:3045311 RGD:1310169 HGNC:25278 "ENST00000424985.3|NM_001145402.2" HGNC:28594 GARIN6 golgi associated RAB2 interactor family member 6 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 MGC39520 FAM71C "family with sequence similarity 71, member C|family with sequence similarity 71 member C" 2006-01-27 2021-11-25 2021-11-25 2023-01-20 196472 ENSG00000180219 OTTHUMG00000170311 uc001tgn.4 NM_153364 CCDS9072 Q8NEG0 12477932 HGNC:28594 "ENST00000324341.2|NM_153364.4" HGNC:25425 GARNL3 GTPase activating Rap/RanGAP domain like 3 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "DKFZp761J1523|bA356B19.1" "GTPase activating RANGAP domain-like 3|GTPase activating Rap/RanGAP domain-like 3" 2004-02-24 2016-03-15 2023-01-20 84253 ENSG00000136895 OTTHUMG00000020700 uc011mae.3 BC034983 NM_032293 "CCDS6869|CCDS69663" Q5VVW2 11230166 MGI:2139309 RGD:1564019 HGNC:25425 "ENST00000373387.9|NM_032293.5" @@ -10006,46 +10007,46 @@ HGNC:16955 GAS2L1 growth arrest specific 2 like 1 protein-coding gene gene with HGNC:50293 GAS2L1P1 growth arrest specific 2 like 1 pseudogene 1 pseudogene pseudogene Approved 9p13.1 09p13.1 2014-04-02 2015-11-23 2015-11-23 101927222 ENSG00000229511 OTTHUMG00000019942 PGOHUM00000236035 HGNC:50293 HGNC:27986 GAS2L1P2 growth arrest specific 2 like 1 pseudogene 2 pseudogene pseudogene Approved 9q22.33 09q22.33 2014-04-02 2015-11-23 2015-11-23 340508 ENSG00000228376 OTTHUMG00000020312 NR_002942 12477932 PGOHUM00000304001 HGNC:27986 HGNC:24846 GAS2L2 growth arrest specific 2 like 2 protein-coding gene gene with protein product Approved 17q12 17q12 GAR17 2004-06-28 2015-11-23 2023-01-20 246176 ENSG00000270765 OTTHUMG00000188386 uc002hjv.2 AF508784 NM_139285 CCDS11298 Q8NHY3 12584248 MGI:3652048 RGD:1307868 611398 HGNC:24846 "ENST00000604641.6|NM_139285.4" HGNC:24846 -HGNC:27475 GAS2L3 growth arrest specific 2 like 3 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 2004-06-28 2015-11-23 2023-01-20 283431 ENSG00000139354 OTTHUMG00000170439 uc001thu.4 AK095594 NM_174942 "CCDS9079|CCDS76590" Q86XJ1 MGI:1918780 RGD:1594151 617224 HGNC:27475 "ENST00000547754.6|NM_174942.3" +HGNC:27475 GAS2L3 growth arrest specific 2 like 3 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 2004-06-28 2015-11-23 2023-01-20 283431 ENSG00000139354 OTTHUMG00000170439 uc001thu.4 AK095594 NM_174942 "CCDS76590|CCDS9079" Q86XJ1 MGI:1918780 RGD:1594151 617224 HGNC:27475 "ENST00000547754.6|NM_174942.3" HGNC:16355 GAS5 growth arrest specific 5 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 "SNHG2|NCRNA00030" "small nucleolar RNA host gene (non-protein coding) 2|non-protein coding RNA 30" growth arrest specific 5 (non-protein coding) "Small nucleolar RNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1839|1992" 2001-08-02 2018-05-16 2018-05-16 60674 ENSG00000234741 OTTHUMG00000037216 uc057nkb.1 BC038733 NR_002578 "9819378|23726844" MGI:95659 RGD:621549 608280 GAS5 GAS5 HGNC:16355 HGNC:44119 GAS5-AS1 GAS5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 GAS5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2017-12-20 100506046 ENSG00000270084 OTTHUMG00000184089 uc021pfa.1 AF088026 NR_037605 29249416 GAS5-AS1 HGNC:44119 HGNC:4168 GAS6 growth arrest specific 6 protein-coding gene gene with protein product Approved 13q34 13q34 "AXSF|FLJ34709|DKFZp666G247" AXL stimulatory factor AXLLG AXL receptor tyrosine kinase ligand Gla domain containing 1250 1994-12-19 2015-11-23 2023-03-15 2621 ENSG00000183087 OTTHUMG00000017395 uc001vud.4 NM_000820 CCDS45072 Q14393 8336730 MGI:95660 RGD:61913 600441 ligandId:4935 HGNC:4168 "ENST00000327773.7|NM_000820.4" HGNC:39826 GAS6-AS1 GAS6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 GAS6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-30 2012-08-15 2014-11-18 650669 ENSG00000233695 OTTHUMG00000017396 uc031qno.3 NR_044995 23979857 GAS6-AS1 HGNC:39826 HGNC:43694 GAS6-DT GAS6 divergent transcript non-coding RNA RNA, long non-coding Approved 13q34 13q34 FLJ44054 GAS6-AS2 GAS6 antisense RNA 2 (head to head) Divergent transcripts 1990 2012-09-10 2018-03-22 2018-03-22 2019-07-12 100506394 ENSG00000272695 OTTHUMG00000186446 uc021rmw.2 AK126042 NR_044993 31162889 GAS6-AS2 HGNC:43694 -HGNC:4169 GAS7 growth arrest specific 7 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "KIAA0394|MGC1348" F-BAR domain containing 1288 1998-10-19 2015-11-23 2023-01-20 8522 ENSG00000007237 OTTHUMG00000177945 uc002gmg.2 AB007854 "NM_003644|NM_201432|NM_201433" "CCDS11152|CCDS58518|CCDS45611|CCDS42263" O60861 9736752 MGI:1202388 RGD:621550 GAS7 603127 HGNC:4169 "ENST00000432992.7|NM_201433.2" -HGNC:4166 GAS8 growth arrest specific 8 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 DRC4 GAS11 growth arrest-specific 11 Dynein regulatory complex 981 1998-03-23 2003-01-17 2015-11-23 2023-01-20 2622 ENSG00000141013 OTTHUMG00000138988 uc002fqi.1 AF050079 NM_001286205 "CCDS67101|CCDS73932|CCDS10992" O95995 9790751 MGI:1202386 RGD:1307817 605178 442934 HGNC:4166 "ENST00000268699.9|NM_001481.3" HGNC:4166 +HGNC:4169 GAS7 growth arrest specific 7 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "KIAA0394|MGC1348" F-BAR domain containing 1288 1998-10-19 2015-11-23 2023-01-20 8522 ENSG00000007237 OTTHUMG00000177945 uc002gmg.2 AB007854 "NM_003644|NM_201432|NM_201433" "CCDS11152|CCDS42263|CCDS58518|CCDS45611" O60861 9736752 MGI:1202388 RGD:621550 GAS7 603127 HGNC:4169 "ENST00000432992.7|NM_201433.2" +HGNC:4166 GAS8 growth arrest specific 8 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 DRC4 GAS11 growth arrest-specific 11 Dynein regulatory complex 981 1998-03-23 2003-01-17 2015-11-23 2023-01-20 2622 ENSG00000141013 OTTHUMG00000138988 uc002fqi.1 AF050079 NM_001286205 "CCDS73932|CCDS67101|CCDS10992" O95995 9790751 MGI:1202386 RGD:1307817 605178 442934 HGNC:4166 "ENST00000268699.9|NM_001481.3" HGNC:4166 HGNC:1197 GAS8-AS1 GAS8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 C16orf3 chromosome 16 open reading frame 3 Antisense RNAs 1987 1998-08-06 2014-10-01 2014-10-01 2023-03-15 750 ENSG00000221819 OTTHUMG00000172804 AF050080 NR_122031 O95177 "9790751|26941397|28781594" 605179 463825 GAS8-AS1 HGNC:1197 HGNC:53461 GASAL1 growth arrest associated lncRNA 1 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 GASL1 growth-arrest associated lncRNA 1 Long non-coding RNAs with non-systematic symbols 1992 2017-07-27 2018-08-17 401472 ENSG00000253669 OTTHUMG00000164736 NR_149020 28423601 HGNC:53461 -HGNC:24485 GASK1A golgi associated kinase 1A protein-coding gene gene with protein product Approved 3p22.1 03p22.1 DKFZP434B172 "C3orf41|FAM198A" "chromosome 3 open reading frame 41|family with sequence similarity 198, member A|family with sequence similarity 198 member A" Golgi associated kinase family 1637 2006-01-08 2018-10-18 2018-10-18 2023-01-20 729085 ENSG00000144649 OTTHUMG00000156449 uc003cmp.6 AL117530 NM_001129908 CCDS46808 Q9UFP1 MGI:3041196 RGD:1305157 HGNC:24485 "ENST00000430121.3|NM_001129908.3" +HGNC:24485 GASK1A golgi associated kinase 1A protein-coding gene gene with protein product Approved 3p22.1 03p22.1 DKFZP434B172 "C3orf41|FAM198A" "chromosome 3 open reading frame 41|family with sequence similarity 198, member A|family with sequence similarity 198 member A" Golgi associated kinase family 1637 2006-01-08 2018-10-18 2018-10-18 2023-01-20 729085 ENSG00000144649 OTTHUMG00000156449 uc003cmp.6 AL117530 NM_001129908 CCDS46808 Q9UFP1 MGI:3041196 RGD:1305157 620413 HGNC:24485 "ENST00000430121.3|NM_001129908.3" HGNC:25312 GASK1B golgi associated kinase 1B protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "FLJ38155|DKFZp434L142|ENED" Expressed in Nerve and Epithelium during Development "C4orf18|FAM198B" "chromosome 4 open reading frame 18|family with sequence similarity 198, member B|family with sequence similarity 198 member B" Golgi associated kinase family 1637 2006-02-13 2018-10-18 2018-10-18 2023-01-20 51313 ENSG00000164125 OTTHUMG00000161537 uc003ipr.5 "NM_001031700|NM_016613" "CCDS3798|CCDS34087" Q6UWH4 12975309 MGI:1915909 RGD:735075 HGNC:25312 "ENST00000585682.6|NM_001128424.2" HGNC:53132 GASK1B-AS1 GASK1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q32.1 04q32.1 FAM198B-AS1 FAM198B antisense RNA 1 Antisense RNAs 1987 2017-08-03 2021-03-01 2021-03-01 2021-03-01 285505 ENSG00000248429 OTTHUMG00000161654 NR_147407 27941916 HGNC:53132 HGNC:4164 GAST gastrin protein-coding gene gene with protein product Approved 17q21.2 17q21.2 preprogastrin GAS Neuropeptides 1902 2001-06-22 2005-06-14 2005-06-14 2023-01-20 2520 ENSG00000184502 OTTHUMG00000133496 uc002hxl.3 NM_000805 CCDS11404 P01350 MGI:104768 RGD:2662 137250 ligandId:8410 HGNC:4164 "ENST00000329402.4|NM_000805.5" HGNC:4170 GATA1 GATA binding protein 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "ERYF1|NFE1|GATA-1|NF-E1" nuclear factor, erythroid 1 GF1 "GATA-binding protein 1 (globin transcription factor 1)|globin transcription factor 1" GATA zinc finger domain containing 82 1990-09-10 2016-02-15 2023-01-20 2623 ENSG00000102145 OTTHUMG00000021504 uc004dkq.5 X17254 NM_002049 CCDS14305 P15976 1999341 MGI:95661 RGD:2663 LRG_559|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_559.xml GATA1 305371 122028 HGNC:4170 "ENST00000376670.9|NM_002049.4" HGNC:4170 -HGNC:4171 GATA2 GATA binding protein 2 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 NFE1B GATA-binding protein 2 GATA zinc finger domain containing 82 1992-11-03 2001-11-28 2023-01-20 2624 ENSG00000179348 OTTHUMG00000159689 uc003eko.3 AF169253 NM_032638 "CCDS46903|CCDS3049" P23769 1714909 MGI:95662 RGD:2664 LRG_295|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_295.xml GATA2 137295 274222 HGNC:4171 "ENST00000341105.7|NM_032638.5" HGNC:4171 +HGNC:4171 GATA2 GATA binding protein 2 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 NFE1B GATA-binding protein 2 GATA zinc finger domain containing 82 1992-11-03 2001-11-28 2023-01-20 2624 ENSG00000179348 OTTHUMG00000159689 uc003eko.3 AF169253 NM_032638 "CCDS3049|CCDS46903" P23769 1714909 MGI:95662 RGD:2664 LRG_295|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_295.xml GATA2 137295 274222 HGNC:4171 "ENST00000341105.7|NM_032638.5" HGNC:4171 HGNC:51108 GATA2-AS1 GATA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 Antisense RNAs 1987 2014-07-29 2014-07-29 101927167 ENSG00000244300 OTTHUMG00000159693 NR_125398 GATA2-AS1 HGNC:51108 HGNC:4172 GATA3 GATA binding protein 3 protein-coding gene gene with protein product Approved 10p14 10p14 HDR GATA-binding protein 3 GATA zinc finger domain containing 82 1992-11-03 2001-11-28 2023-01-20 2625 ENSG00000107485 OTTHUMG00000017640 uc001ika.4 X55122 NM_001002295 "CCDS31143|CCDS7083" P23771 "2050118|15087456" MGI:95663 RGD:621250 GATA3 131320 122033 HGNC:4172 "ENST00000379328.9|NM_001002295.2" HGNC:4172 HGNC:33786 GATA3-AS1 GATA3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Antisense RNAs 1987 2012-12-04 2023-03-15 399717 ENSG00000197308 OTTHUMG00000156966 uc001ijx.1 "BC036297|AK128810" NR_104327 "23870669|30420860" gata3-as1 GATA3-AS1 HGNC:33786 -HGNC:4173 GATA4 GATA binding protein 4 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 GATA-binding protein 4 GATA zinc finger domain containing 82 1994-11-30 2001-11-28 2023-01-20 2626 ENSG00000136574 OTTHUMG00000090800 uc003wuc.3 AK097060 NM_002052 "CCDS78304|CCDS5983|CCDS78303" P43694 7665171 MGI:95664 RGD:2665 600576 122035 HGNC:4173 "ENST00000532059.6|NM_001308093.3" HGNC:4173 +HGNC:4173 GATA4 GATA binding protein 4 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 GATA-binding protein 4 GATA zinc finger domain containing 82 1994-11-30 2001-11-28 2023-01-20 2626 ENSG00000136574 OTTHUMG00000090800 uc003wuc.3 AK097060 NM_002052 "CCDS78303|CCDS5983|CCDS78304" P43694 7665171 MGI:95664 RGD:2665 600576 122035 HGNC:4173 "ENST00000532059.6|NM_001308093.3" HGNC:4173 HGNC:15802 GATA5 GATA binding protein 5 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "bB379O24.1|GATAS" GATA-binding protein 5 GATA zinc finger domain containing 82 2001-09-17 2001-11-28 2023-01-20 140628 ENSG00000130700 OTTHUMG00000032919 uc002ycx.1 "BC047790|BC117356" NM_080473 CCDS13499 Q9BWX5 9566909 MGI:109497 RGD:1561365 611496 304191 HGNC:15802 "ENST00000252997.3|NM_080473.5" HGNC:15802 HGNC:4174 GATA6 GATA binding protein 6 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 GATA-binding protein 6 GATA zinc finger domain containing 82 1996-10-11 2001-11-28 2023-01-20 2627 ENSG00000141448 OTTHUMG00000131767 uc002ktt.2 U66075 NM_005257 CCDS11872 Q92908 8975704 MGI:107516 RGD:2666 601656 291853 HGNC:4174 "ENST00000269216.10|NM_005257.6" HGNC:4174 HGNC:48840 GATA6-AS1 GATA6 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 "locus5689|BM742401" locus 5689 Antisense RNAs 1987 2013-06-14 2017-07-14 100128893 ENSG00000266010 OTTHUMG00000179440 BM742401 NR_102763 "23846333|23382218|27689399" GATA6-AS1 HGNC:48840 HGNC:29941 GATAD1 GATA zinc finger domain containing 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "ODAG|RG083M05.2|FLJ22489" ocular development associated gene "GATA zinc finger domain containing|EMSY complex" "82|1243" 2005-03-31 2023-01-20 57798 ENSG00000157259 OTTHUMG00000131201 uc003ulx.3 NM_021167 CCDS5625 Q8WUU5 12062807 MGI:1914460 RGD:1562004 LRG_746|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_746.xml 614518 304455 HGNC:29941 "ENST00000287957.5|NM_021167.5" HGNC:29941 -HGNC:29989 GATAD2A GATA zinc finger domain containing 2A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 p66alpha p66 alpha "GATA zinc finger domain containing|MicroRNA protein coding host genes" "82|1691" 2005-03-31 2023-01-20 54815 ENSG00000167491 OTTHUMG00000152541 uc010xqt.3 AL390164 NM_017660 "CCDS12402|CCDS77270" Q86YP4 12183469 MGI:2384585 RGD:1310596 614997 HGNC:29989 "ENST00000683918.1|NM_001384528.1" +HGNC:29989 GATAD2A GATA zinc finger domain containing 2A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 p66alpha p66 alpha "GATA zinc finger domain containing|MicroRNA protein coding host genes" "82|1691" 2005-03-31 2023-01-20 54815 ENSG00000167491 OTTHUMG00000152541 uc010xqt.3 AL390164 NM_017660 "CCDS77270|CCDS12402" Q86YP4 12183469 MGI:2384585 RGD:1310596 614997 HGNC:29989 "ENST00000683918.1|NM_001384528.1" HGNC:30778 GATAD2B GATA zinc finger domain containing 2B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 P66beta transcription repressor p66 beta component of the MeCP1 complex GATA zinc finger domain containing 82 2005-03-31 2023-01-20 57459 ENSG00000143614 OTTHUMG00000037162 uc001fdb.5 AF411836 NM_020699 CCDS1054 Q8WXI9 "10574461|11756549" MGI:2443225 RGD:1308533 614998 318860 HGNC:30778 "ENST00000368655.5|NM_020699.4" HGNC:30778 HGNC:8849 GATB glutamyl-tRNA amidotransferase subunit B protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "PET112L|PET112" "PET112 (yeast homolog)-like|glutamyl-tRNA(Gln) amidotransferase, subunit B" Glutamyl-tRNA amidotransferase subunits 1663 1998-07-03 2014-08-04 2016-06-21 2023-01-20 5188 ENSG00000059691 OTTHUMG00000161672 AF026851 NM_001363341 CCDS3776 O75879 "9878253|19805282" MGI:2442496 RGD:1307864 603645 HGNC:8849 "ENST00000263985.11|NM_004564.3" HGNC:25068 GATC glutamyl-tRNA amidotransferase subunit C protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ37000|15E1.2" glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) Glutamyl-tRNA amidotransferase subunits 1663 2007-11-26 2016-06-21 2023-01-20 283459 ENSG00000257218 OTTHUMG00000047788 uc010szi.3 AK094319 NM_176818 CCDS31911 O43716 19805282 MGI:1923776 RGD:1309698 617210 HGNC:25068 "ENST00000551765.6|NM_176818.3" -HGNC:26616 GATD1 glutamine amidotransferase class 1 domain containing 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 FLJ34283 PDDC1 "Parkinson disease 7 domain containing 1|glutamine amidotransferase like class 1 domain containing 1" Glutamine amidotransferase class 1 domain containing 1408 2005-10-26 2017-03-16 2021-04-12 2023-01-20 347862 ENSG00000177225 OTTHUMG00000133315 uc001lrc.4 AK128653 NM_182612 "CCDS7713|CCDS91400|CCDS81530" Q8NB37 MGI:2387178 RGD:1304836 C56.974 HGNC:26616 "ENST00000319863.13|NM_182612.4" +HGNC:26616 GATD1 glutamine amidotransferase class 1 domain containing 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 FLJ34283 PDDC1 "Parkinson disease 7 domain containing 1|glutamine amidotransferase like class 1 domain containing 1" "Glutamine amidotransferase class 1 domain containing|FERRY complex subunits" "1408|2246" 2005-10-26 2017-03-16 2021-04-12 2023-01-20 347862 ENSG00000177225 OTTHUMG00000133315 uc001lrc.4 AK128653 NM_182612 "CCDS81530|CCDS7713|CCDS91400" Q8NB37 MGI:2387178 RGD:1304836 C56.974 HGNC:26616 "ENST00000319863.13|NM_182612.4" HGNC:29907 GATD1-DT GATD1 divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Divergent transcripts 1990 2021-12-13 2021-12-13 171391 ENSG00000255284 NR_126342 HGNC:1273 GATD3 glutamine amidotransferase class 1 domain containing 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KNP-Ia|GT335|ES1|HES1|D21S2048E|KNPI|KNPH|KNP-I" ES1 protein homolog "C21orf33|GATD3A" "chromosome 21 open reading frame 33|glutamine amidotransferase like class 1 domain containing 3A|glutamine amidotransferase class 1 domain containing 3A" Glutamine amidotransferase class 1 domain containing 1408 2000-05-23 2021-06-18 2021-06-18 2023-01-20 8209 ENSG00000160221 OTTHUMG00000086916 uc002zec.5 Y07572 NM_004649 "CCDS33580|CCDS82680|CCDS33581" P0DPI2 "9150728|8975701|15707356|26926452" MGI:1351861 RGD:1303003 601659 470444 HGNC:1273 "ENST00000291577.11|NM_004649.8" HGNC:4175 GATM glycine amidinotransferase protein-coding gene gene with protein product Approved 15q21.1 15q21.1 AGAT L-arginine:glycine amidinotransferase 1998-02-20 2016-01-15 2023-01-20 2628 ENSG00000171766 OTTHUMG00000131427 uc001zvc.4 S68805 NM_001482 CCDS10122 P50440 8313955 MGI:1914342 RGD:71090 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GATM 602360 122037 objectId:1246 2.1.4.1 HGNC:4175 "ENST00000396659.8|NM_001482.3" HGNC:4175 HGNC:53880 GAU1 GALNT8 antisense upstream 1 non-coding RNA RNA, long non-coding Approved 12p13.32 12p13.32 GALNT8-DT GALNT8 divergent transcript Long non-coding RNAs with non-systematic symbols 1992 2018-05-17 2018-05-17 101929549 ENSG00000255474 NR_110112 29741668 HGNC:53880 HGNC:4177 GBA1 glucosylceramidase beta 1 protein-coding gene gene with protein product Approved 1q22 01q22 glucocerebrosidase "GLUC|GBA" "glucosylceramidase|glucosidase, beta; acid (includes glucosylceramidase)|glucosidase, beta, acid|glucosylceramidase beta" "Glycoside hydrolases|Glucosylceramidases" "1650|2092" 1986-01-01 2022-06-09 2022-06-09 2023-01-20 2629 ENSG00000177628 OTTHUMG00000035841 uc001fjk.4 M19285 NM_000157 "CCDS53373|CCDS1102|CCDS53374" P04062 3359914 MGI:95665 RGD:1589149 606463 122039 objectId:2978 3.2.1.45 HGNC:4177 "ENST00000368373.8|NM_000157.4" HGNC:4177 HGNC:4178 GBA1LP glucosylceramidase beta 1 like, pseudogene pseudogene pseudogene Approved 1q22 01q22 "GBAP|GBAP1" "glucosidase, beta; acid, pseudogene|glucosidase, beta, acid pseudogene 1|glucosylceramidase beta pseudogene 1" 1989-05-11 2023-05-18 2023-05-18 2023-05-18 2630 ENSG00000160766 OTTHUMG00000176393 J03060 NR_002188.2 HGNC:4178 -HGNC:18986 GBA2 glucosylceramidase beta 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "KIAA1605|AD035|DKFZp762K054" "bile acid beta-glucosidase|non-lysosomal glucosylceramidase|glucocerebrosidase 2" SPG46 "spastic paraplegia 46 (autosomal recessive)|glucosidase, beta (bile acid) 2" "Glycoside hydrolases|Glucosylceramidases" "1650|2092" 2002-07-25 2016-03-15 2023-01-20 57704 ENSG00000070610 OTTHUMG00000021024 uc003zxw.3 AJ309567 NM_020944 "CCDS6589|CCDS83363" Q9HCG7 "11489889|23332916|23332917" MGI:2654325 RGD:1305598 609471 328666 3.2.1.45 HGNC:18986 "ENST00000378103.7|NM_020944.3" HGNC:18986 +HGNC:18986 GBA2 glucosylceramidase beta 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "KIAA1605|AD035|DKFZp762K054" "bile acid beta-glucosidase|non-lysosomal glucosylceramidase|glucocerebrosidase 2" SPG46 "spastic paraplegia 46 (autosomal recessive)|glucosidase, beta (bile acid) 2" "Glycoside hydrolases|Glucosylceramidases" "1650|2092" 2002-07-25 2016-03-15 2023-01-20 57704 ENSG00000070610 OTTHUMG00000021024 uc003zxw.3 AJ309567 NM_020944 "CCDS83363|CCDS6589" Q9HCG7 "11489889|23332916|23332917" MGI:2654325 RGD:1305598 609471 328666 3.2.1.45 HGNC:18986 "ENST00000378103.7|NM_020944.3" HGNC:18986 HGNC:19069 GBA3 glucosylceramidase beta 3 (gene/pseudogene) protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "GLUC|KLrP|CBGL1" "klotho-related protein|cytosolic β-glucosidase-like protein-1" "glucosidase, beta, acid 3 (cytosolic)|glucosidase, beta, acid 3 (gene/pseudogene)" "Glycoside hydrolase family 1|Glucosylceramidases" "1652|2092" 2002-12-16 2016-03-15 2023-03-15 57733 ENSG00000249948 OTTHUMG00000160448 uc031sdv.2 AB017913 NM_001128432 Q9H227 "11389701|17595169" RGD:1309539 606619 3.2.1.21 HGNC:19069 HGNC:4180 GBE1 1,4-alpha-glucan branching enzyme 1 protein-coding gene gene with protein product Approved 3p12.2 03p12.2 "glycogen branching enzyme|Andersen disease|glycogen storage disease type IV" glucan (1,4-alpha-), branching enzyme 1 1993-06-21 2016-08-10 2023-01-20 2632 ENSG00000114480 OTTHUMG00000158978 uc062lqz.1 NM_000158 CCDS54612 Q04446 8463281 MGI:1921435 RGD:1309968 607839 122043 2.4.1.18 HGNC:4180 "ENST00000429644.7|NM_000158.4" HGNC:4180 -HGNC:4181 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "KIAA0248|ARF1GEF" golgi-specific brefeldin A resistance factor 1 Sec7 family 1945 1999-01-14 2010-02-12 2023-01-20 8729 ENSG00000107862 OTTHUMG00000018955 uc001kux.3 D87435 NM_001199378 "CCDS91335|CCDS91332|CCDS91334|CCDS91328|CCDS91330|CCDS91329|CCDS91333|CCDS91331|CCDS7533|CCDS91336" Q92538 9828135 MGI:1861607 RGD:1307160 603698 HGNC:4181 "ENST00000369983.5|NM_001377137.1" HGNC:4181 -HGNC:20460 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "UDP-GalNAc|A3GALNT|MGC44848|FS" "Forssman glycolipid synthetase (FS)|Forssman synthetase|Forssman blood group" "Glycosyltransferase family 6|Blood group antigens" "429|454" 2004-05-17 2017-03-16 2023-01-20 26301 ENSG00000148288 OTTHUMG00000020853 uc004ccw.5 AY358175 NM_021996 "CCDS65176|CCDS6960|CCDS65175" Q8N5D6 "10506200|8855242" MGI:2449143 RGD:1591938 LRG_826|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_826.xml 606074 HGNC:20460 "ENST00000372040.9|NM_021996.6" +HGNC:4181 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "KIAA0248|ARF1GEF" golgi-specific brefeldin A resistance factor 1 Sec7 family 1945 1999-01-14 2010-02-12 2023-01-20 8729 ENSG00000107862 OTTHUMG00000018955 uc001kux.3 D87435 NM_001199378 "CCDS91334|CCDS91329|CCDS91335|CCDS91332|CCDS91330|CCDS91328|CCDS7533|CCDS91331|CCDS91333|CCDS91336" Q92538 9828135 MGI:1861607 RGD:1307160 603698 HGNC:4181 "ENST00000369983.5|NM_001377137.1" HGNC:4181 +HGNC:20460 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "UDP-GalNAc|A3GALNT|MGC44848|FS" "Forssman glycolipid synthetase (FS)|Forssman synthetase|Forssman blood group" "Glycosyltransferase family 6|Blood group antigens" "429|454" 2004-05-17 2017-03-16 2023-01-20 26301 ENSG00000148288 OTTHUMG00000020853 uc004ccw.5 AY358175 NM_021996 "CCDS6960|CCDS65175|CCDS65176" Q8N5D6 "10506200|8855242" MGI:2449143 RGD:1591938 LRG_826|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_826.xml 606074 HGNC:20460 "ENST00000372040.9|NM_021996.6" HGNC:4182 GBP1 guanylate binding protein 1 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "guanylate binding protein 1, interferon-inducible, 67kDa|guanylate binding protein 1, interferon-inducible" Guanylate binding proteins 1825 1995-01-03 2016-01-21 2023-01-20 2633 ENSG00000117228 OTTHUMG00000010614 uc001dmx.3 BC002666 NM_002053 CCDS718 P32455 7518790 "MGI:95666|MGI:102772" RGD:1311877 600411 HGNC:4182 "ENST00000370473.5|NM_002053.3" HGNC:39561 GBP1P1 guanylate binding protein 1 pseudogene 1 pseudogene pseudogene Approved 1p22.2 01p22.2 LIMIT lncRNA inducing MHC-I and immunogenicity of tumour guanylate binding protein 1, interferon-inducible pseudogene 1 2011-03-09 2016-01-21 2022-08-19 400759 ENSG00000225492 OTTHUMG00000010128 NR_003133 33958760 PGOHUM00000244789 HGNC:39561 HGNC:4183 GBP2 guanylate binding protein 2 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 guanylate binding protein 2, interferon-inducible Guanylate binding proteins 1825 1995-01-30 2016-01-21 2023-01-20 2634 ENSG00000162645 OTTHUMG00000010662 uc001dmz.3 BC073163 NM_004120 CCDS719 P32456 1715024 "MGI:95666|MGI:102772" RGD:621810 600412 HGNC:4183 "ENST00000370466.4|NM_004120.5" @@ -10056,27 +10057,27 @@ HGNC:25395 GBP6 guanylate binding protein family member 6 protein-coding gene ge HGNC:29606 GBP7 guanylate binding protein 7 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "FLJ38822|GBP4L" Guanylate binding proteins 1825 2005-05-19 2023-01-20 388646 ENSG00000213512 OTTHUMG00000010659 uc001dna.2 AK096141 NM_207398 CCDS720 Q8N8V2 "MGI:1926263|MGI:2444421" RGD:1583235 612468 HGNC:29606 "ENST00000294671.3|NM_207398.3" HGNC:4185 GBX1 gastrulation brain homeobox 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 gastrulation brain homeo box 1 HOXL subclass homeoboxes 518 1997-10-30 2005-12-22 2023-01-20 2636 ENSG00000164900 OTTHUMG00000158751 uc011kvg.3 L11239 NM_001098834 CCDS43682 Q14549 7903253 MGI:95667 RGD:621864 603354 8438 HGNC:4185 "ENST00000297537.5|NM_001098834.3" HGNC:4186 GBX2 gastrulation brain homeobox 2 protein-coding gene gene with protein product Approved 2q37.2 02q37.2 gastrulation brain homeo box 2 HOXL subclass homeoboxes 518 1997-10-30 2005-12-22 2023-01-20 2637 ENSG00000168505 OTTHUMG00000133294 uc002vvw.2 AF118452 NM_001485 "CCDS2515|CCDS77545" P52951 "9346236|8838315" MGI:95668 RGD:621866 601135 8379 HGNC:4186 "ENST00000306318.5|NM_001485.4" -HGNC:55714 GBX2-AS1 GBX2 and ASB18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.2 02q37.2 AC079135.1 Antisense RNAs 1987 2021-07-12 2023-05-04 121853074 ENSG00000233611 -HGNC:4187 GC GC vitamin D binding protein protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "DBP|VDBP|hDBP" "group-specific component (vitamin D binding protein)|GC, vitamin D binding protein" Albuminoid family 1620 1986-01-01 2019-01-25 2023-01-20 2638 ENSG00000145321 OTTHUMG00000129915 uc003hge.4 L10641 NM_000583 "CCDS56332|CCDS3550" P02774 558959 MGI:95669 RGD:2667 139200 HGNC:4187 "ENST00000273951.13|NM_000583.4" +HGNC:55714 GBX2-AS1 GBX2 and ASB18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.2 02q37.2 AC079135.1 Antisense RNAs 1987 2021-07-12 2023-05-04 121853074 ENSG00000233611 NR_186035 +HGNC:4187 GC GC vitamin D binding protein protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "DBP|VDBP|hDBP" "group-specific component (vitamin D binding protein)|GC, vitamin D binding protein" Albuminoid family 1620 1986-01-01 2019-01-25 2023-01-20 2638 ENSG00000145321 OTTHUMG00000129915 uc003hge.4 L10641 NM_000583 "CCDS3550|CCDS56332" P02774 558959 MGI:95669 RGD:2667 139200 HGNC:4187 "ENST00000273951.13|NM_000583.4" HGNC:15990 GCA grancalcin protein-coding gene gene with protein product Approved 2q24.2 02q24.2 GCL "grancalcin, EF-hand calcium-binding protein|grancalcin, EF-hand calcium binding protein" EF-hand domain containing 863 2001-07-20 2015-11-27 2023-01-20 25801 ENSG00000115271 OTTHUMG00000132057 uc002ucg.4 M81637 NM_012198 "CCDS82527|CCDS2218" P28676 "1737748|1530588|12804766" MGI:1918521 RGD:1306589 607030 HGNC:15990 "ENST00000437150.7|NM_012198.5" HGNC:52281 GCASPC gall bladder cancer associated suppressor of pyruvate carboxylase lncRNA non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 "TCONS_00011605|RP1-56L9.7-001|lnc-SOD2-1" Long non-coding RNAs with non-systematic symbols 1992 2016-08-04 2020-01-22 112441427 27450454 -HGNC:4188 GCAT glycine C-acetyltransferase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 KBL 2-amino-3-ketobutyrate coenzyme A ligase glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase) 1999-10-13 2010-01-19 2023-01-20 23464 ENSG00000100116 OTTHUMG00000150664 uc003atz.4 AF077740 NM_014291.2 "CCDS13957|CCDS54527" O75600 MGI:1349389 RGD:1307291 607422 2.3.1.29 HGNC:4188 "ENST00000248924.11|NM_014291.4" +HGNC:4188 GCAT glycine C-acetyltransferase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 KBL 2-amino-3-ketobutyrate coenzyme A ligase glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase) 1999-10-13 2010-01-19 2023-01-20 23464 ENSG00000100116 OTTHUMG00000150664 uc003atz.4 AF077740 NM_014291.2 "CCDS54527|CCDS13957" O75600 MGI:1349389 RGD:1307291 607422 2.3.1.29 HGNC:4188 "ENST00000248924.11|NM_014291.4" HGNC:20013 GCATP1 glycine C-acetyltransferase pseudogene 1 pseudogene pseudogene Approved 14q23.2 14q23.2 GCATP glycine C-acetyltransferase pseudogene 2003-01-13 2010-01-19 2010-01-19 2020-04-07 319140 ENSG00000270878 OTTHUMG00000184525 NG_002517 PGOHUM00000247826 HGNC:20013 HGNC:53740 GCAWKR gastric cancer associated WDR5 and KAT2A binding lncRNA non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Long non-coding RNAs with non-systematic symbols 1992 2021-01-27 2021-11-05 105369201 ENSG00000272808 NR_160702 30274785 HGNC:19095 GCC1 GRIP and coiled-coil domain containing 1 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "FLJ22035|GCC88|GCC1P|MGC20706" golgi coiled-coil 1 Golgins 1084 2002-08-12 2003-10-17 2023-01-20 79571 ENSG00000179562 OTTHUMG00000023590 uc003vma.4 AF525417 NM_024523 CCDS5796 Q96CN9 10209125 MGI:1921625 RGD:2319954 607418 HGNC:19095 "ENST00000321407.3|NM_024523.6" HGNC:23218 GCC2 GRIP and coiled-coil domain containing 2 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "GCC185|KIAA0336" GRIP and coiled-coil domain-containing 2 Golgins 1084 2003-10-17 2004-03-05 2023-03-15 9648 ENSG00000135968 OTTHUMG00000153214 uc002tec.4 BC020645 NM_014635 CCDS33268 Q8IWJ2 12446665 MGI:1917547 RGD:1305732 612711 HGNC:23218 "ENST00000309863.11|NM_181453.4" HGNC:28126 GCC2-AS1 GCC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 Antisense RNAs 1987 2015-03-11 2020-04-20 644903 ENSG00000214184 OTTHUMG00000153224 BC004487 NR_135290 GCC2-AS1 HGNC:28126 HGNC:4189 GCDH glutaryl-CoA dehydrogenase protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "ACAD5|GCD" glutaryl-Coenzyme A dehydrogenase Acyl-CoA dehydrogenase family 974 1992-12-17 2010-04-30 2023-03-15 2639 ENSG00000105607 OTTHUMG00000180561 uc002mvq.5 AF012342 NM_000159 CCDS12286 Q92947 "1438360|8088809" MGI:104541 RGD:1308829 608801 122045 1.3.8.6 HGNC:4189 "ENST00000222214.10|NM_000159.4" HGNC:4189 -HGNC:1317 GCFC2 GC-rich sequence DNA-binding factor 2 protein-coding gene gene with protein product Approved 2p12 02p12 "DNABF|GCF" GC binding factor "TCF9|C2orf3" "transcription factor 9 (binds GC-rich sequences)|chromosome 2 open reading frame 3" 2000-05-26 2011-11-24 2011-11-24 2023-01-20 6936 ENSG00000005436 OTTHUMG00000129989 uc002sno.4 AB026911 NM_003203 "CCDS1961|CCDS62943|CCDS92788" P16383 "1370479|2556218|17309879|24304693" MGI:2141656 RGD:1304792 189901 HGNC:1317 "ENST00000321027.8|NM_003203.5" +HGNC:1317 GCFC2 GC-rich sequence DNA-binding factor 2 protein-coding gene gene with protein product Approved 2p12 02p12 "DNABF|GCF" GC binding factor "TCF9|C2orf3" "transcription factor 9 (binds GC-rich sequences)|chromosome 2 open reading frame 3" 2000-05-26 2011-11-24 2011-11-24 2023-01-20 6936 ENSG00000005436 OTTHUMG00000129989 uc002sno.4 AB026911 NM_003203 "CCDS62943|CCDS92788|CCDS1961" P16383 "1370479|2556218|17309879|24304693" MGI:2141656 RGD:1304792 189901 HGNC:1317 "ENST00000321027.8|NM_003203.5" HGNC:4191 GCG glucagon protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "GLP1|GLP2|GRPP|GLP-1" "glicentin-related polypeptide|glucagon-like peptide 1|glucagon-like peptide 2|preproglucagon" Receptor ligands 542 2001-06-22 2023-01-20 2641 ENSG00000115263 OTTHUMG00000153892 uc002ucc.5 NM_002054 CCDS46439 P01275 "2753890|3725587" MGI:95674 RGD:2668 138030 ligandId:5194 HGNC:4191 "ENST00000418842.7|NM_002054.5" HGNC:4192 GCGR glucagon receptor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 GGR Glucagon receptor family 269 1994-03-04 2023-01-20 2642 ENSG00000215644 OTTHUMG00000177914 uc010wuw.2 "U03469|L20316" NM_000160 CCDS54177 P47871 8020989 MGI:99572 RGD:2669 138033 446713 objectId:251 HGNC:4192 "ENST00000400723.8|NM_000160.5" HGNC:4192 -HGNC:4193 GCH1 GTP cyclohydrolase 1 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "GTPCH1|DYT5a" "dopa-responsive dystonia|GTP cyclohydrolase I" "GCH|DYT5|DYT14" dystonia 14 MicroRNA protein coding host genes 1691 1988-05-11 2008-08-01 2023-01-20 2643 ENSG00000131979 OTTHUMG00000029754 uc059bsc.1 U19523 NM_000161 "CCDS45110|CCDS9720|CCDS41954" P30793 "7874165|8695054" MGI:95675 RGD:61992 BIOMDBdb: Database of Mutations Causing BH4 Deficiencies and other PND|http://www.biopku.org/home/biomdb.asp 600225 122048 3.5.4.16 HGNC:4193 "ENST00000491895.7|NM_000161.3" HGNC:4193 +HGNC:4193 GCH1 GTP cyclohydrolase 1 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "GTPCH1|DYT5a" "dopa-responsive dystonia|GTP cyclohydrolase I" "GCH|DYT5|DYT14" dystonia 14 MicroRNA protein coding host genes 1691 1988-05-11 2008-08-01 2023-01-20 2643 ENSG00000131979 OTTHUMG00000029754 uc059bsc.1 U19523 NM_000161 "CCDS41954|CCDS45110|CCDS9720" P30793 "7874165|8695054" MGI:95675 RGD:61992 BIOMDBdb: Database of Mutations Causing BH4 Deficiencies and other PND|http://www.biopku.org/home/biomdb.asp 600225 122048 3.5.4.16 HGNC:4193 "ENST00000491895.7|NM_000161.3" HGNC:4193 HGNC:4194 GCHFR GTP cyclohydrolase I feedback regulator protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "GFRP|HsT16933" GTP cyclohydrolase I feedback regulatory protein 1996-12-18 2004-05-20 2023-01-20 2644 ENSG00000137880 OTTHUMG00000130069 uc001zmr.2 U78190 NM_005258 CCDS10064 P30047 "8702680|1286669" MGI:2443977 RGD:621746 602437 HGNC:4194 "ENST00000260447.6|NM_005258.3" -HGNC:4195 GCK glucokinase protein-coding gene gene with protein product Approved 7p13 07p13 HK4 hexokinase 4 MODY2 "maturity onset diabetes of the young 2|glucokinase (hexokinase 4)" 1991-06-05 2016-01-22 2023-03-15 2645 ENSG00000106633 OTTHUMG00000022903 uc003tkl.3 AF041014 NM_000162 "CCDS94091|CCDS94092|CCDS5479|CCDS5480" P35557 "1740341|1502186" MGI:1270854 RGD:2670 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GCK|LRG_1074|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1074.xml" 138079 122053 objectId:2798 "2.7.1.2|2.7.1.1" HGNC:4195 "ENST00000403799.8|NM_000162.5" HGNC:4195 +HGNC:4195 GCK glucokinase protein-coding gene gene with protein product Approved 7p13 07p13 HK4 hexokinase 4 MODY2 "maturity onset diabetes of the young 2|glucokinase (hexokinase 4)" 1991-06-05 2016-01-22 2023-03-15 2645 ENSG00000106633 OTTHUMG00000022903 uc003tkl.3 AF041014 NM_000162 "CCDS94091|CCDS5480|CCDS94092|CCDS5479" P35557 "1740341|1502186" MGI:1270854 RGD:2670 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GCK|LRG_1074|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1074.xml" 138079 122053 objectId:2798 "2.7.1.2|2.7.1.1" HGNC:4195 "ENST00000403799.8|NM_000162.5" HGNC:4195 HGNC:4196 GCKR glucokinase regulator protein-coding gene gene with protein product Approved 2p23.3 02p23.3 hexokinase 4 regulator glucokinase (hexokinase 4) regulatory protein 1993-08-24 2016-06-21 2023-01-20 2646 ENSG00000084734 OTTHUMG00000128426 uc002rky.4 Z48475 NM_001486 CCDS1757 Q14397 "9570959|8662230" MGI:1096345 RGD:2671 600842 HGNC:4196 "ENST00000264717.7|NM_001486.4" -HGNC:4311 GCLC glutamate-cysteine ligase catalytic subunit protein-coding gene gene with protein product Approved 6p12.1 06p12.1 GCS "GLCLC|GLCL" glutamate-cysteine ligase, catalytic subunit 1993-11-24 2016-02-24 2023-01-20 2729 ENSG00000001084 OTTHUMG00000160220 uc003pbw.3 M90656 NM_001197115 "CCDS4952|CCDS75471" P48506 1350904 MGI:104990 RGD:619868 LRG_1166|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1166.xml 606857 122057 6.3.2.2 HGNC:4311 "ENST00000650454.1|NM_001498.4" HGNC:4311 +HGNC:4311 GCLC glutamate-cysteine ligase catalytic subunit protein-coding gene gene with protein product Approved 6p12.1 06p12.1 GCS "GLCLC|GLCL" glutamate-cysteine ligase, catalytic subunit 1993-11-24 2016-02-24 2023-01-20 2729 ENSG00000001084 OTTHUMG00000160220 uc003pbw.3 M90656 NM_001197115 "CCDS75471|CCDS4952" P48506 1350904 MGI:104990 RGD:619868 LRG_1166|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1166.xml 606857 122057 6.3.2.2 HGNC:4311 "ENST00000650454.1|NM_001498.4" HGNC:4311 HGNC:56649 GCLC-AS1 GCLC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 AL033397.2 Antisense RNAs 1987 2022-11-25 2022-11-25 105375095 ENSG00000249379 NR_183318 -HGNC:4312 GCLM glutamate-cysteine ligase modifier subunit protein-coding gene gene with protein product Approved 1p22.1 01p22.1 gamma-glutamylcysteine synthetase GLCLR glutamate-cysteine ligase, modifier subunit 1995-01-30 2016-01-21 2023-01-20 2730 ENSG00000023909 OTTHUMG00000010562 uc001dqg.2 L35546 NM_002061 "CCDS81352|CCDS746" P48507 7826375 MGI:104995 RGD:619871 601176 6.3.2.2 HGNC:4312 "ENST00000370238.8|NM_002061.4" +HGNC:4312 GCLM glutamate-cysteine ligase modifier subunit protein-coding gene gene with protein product Approved 1p22.1 01p22.1 gamma-glutamylcysteine synthetase GLCLR glutamate-cysteine ligase, modifier subunit 1995-01-30 2016-01-21 2023-01-20 2730 ENSG00000023909 OTTHUMG00000010562 uc001dqg.2 L35546 NM_002061 "CCDS746|CCDS81352" P48507 7826375 MGI:104995 RGD:619871 601176 6.3.2.2 HGNC:4312 "ENST00000370238.8|NM_002061.4" HGNC:4197 GCM1 glial cells missing transcription factor 1 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 hGCMa GCMA "glial cells missing (Drosophila) homolog a|glial cells missing homolog 1 (Drosophila)" 1998-10-02 2002-09-27 2018-11-09 2023-01-20 8521 ENSG00000137270 OTTHUMG00000014871 uc003pbp.4 D88613 NM_003643 CCDS4950 Q9NP62 "8962155|29743241" MGI:108045 RGD:61852 603715 HGNC:4197 "ENST00000259803.8|NM_003643.4" HGNC:4198 GCM2 glial cells missing transcription factor 2 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 hGCMb GCMB "glial cells missing (Drosophila) homolog b|glial cells missing homolog 2 (Drosophila)" 1998-10-02 2002-09-27 2018-11-09 2023-01-20 9247 ENSG00000124827 OTTHUMG00000014249 uc003mzn.5 AF079550 NM_004752 CCDS4517 O75603 "9928992|30390809" MGI:1861438 RGD:1311127 603716 159623 HGNC:4198 "ENST00000379491.5|NM_004752.4" HGNC:4198 HGNC:4199 GCN1 GCN1 activator of EIF2AK4 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "KIAA0219|GCN1L" GCN1L1 "GCN1 (general control of amino-acid synthesis 1, yeast)-like 1|GCN1 general control of amino-acid synthesis 1-like 1 (yeast)|GCN1, eIF2 alpha kinase activator homolog" "TOG domain containing|MicroRNA protein coding host genes" "1495|1691" 1999-08-20 2015-07-03 2019-02-01 2023-01-20 10985 ENSG00000089154 OTTHUMG00000169338 U77700 NM_006836 CCDS41847 Q92616 "9234705|27852836" MGI:2444248 RGD:1593434 605614 HGNC:4199 "ENST00000300648.7|NM_006836.2" @@ -10088,14 +10089,14 @@ HGNC:37972 GCNT1P2 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 2 ps HGNC:37973 GCNT1P3 glucosaminyl (N-acetyl) transferase 1 pseudogene 3 pseudogene pseudogene Approved 3q28 03q28 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 3 2010-03-16 2018-10-18 2018-10-18 100421581 ENSG00000231047 OTTHUMG00000156212 NG_022287 PGOHUM00000238299 HGNC:37973 HGNC:37974 GCNT1P4 glucosaminyl (N-acetyl) transferase 1 pseudogene 4 pseudogene pseudogene Approved 6q12 06q12 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 4 2010-03-16 2018-10-18 2018-10-18 100462829 ENSG00000219653 OTTHUMG00000014956 NG_022356 PGOHUM00000243659 HGNC:37974 HGNC:37975 GCNT1P5 glucosaminyl (N-acetyl) transferase 1 pseudogene 5 pseudogene pseudogene Approved 7q11.23 07q11.23 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 5 2010-03-16 2018-10-18 2018-10-18 100421598 ENSG00000237620 OTTHUMG00000155782 NG_022567 PGOHUM00000233448 HGNC:37975 -HGNC:4204 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) protein-coding gene gene with protein product Approved 6p24.3-p24.2 06p24.3-p24.2 "IGNT|NAGCT1|bA421M1.1|bA360O19.2|ULG3" "Ii blood group|unassigned linkage group 3" "NACGT1|II|GCNT5|CCAT" "glucosaminyl (N-acetyl) transferase 5|cataract, congenital|glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)" "Glucosaminyl (N-acetyl) transferases/xylosyltransferases|Blood group antigens" "441|454" 1993-09-07 2018-02-22 2023-01-20 2651 ENSG00000111846 OTTHUMG00000014244 uc010jol.4 L41605 NM_145649 "CCDS4513|CCDS34338|CCDS4512" Q8N0V5 "8449405|9915862" MGI:1100870 RGD:1303198 LRG_819|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_819.xml 600429 426937 2.4.1.150 HGNC:4204 "ENST00000495262.7|NM_145649.5" HGNC:4204 +HGNC:4204 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) protein-coding gene gene with protein product Approved 6p24.3-p24.2 06p24.3-p24.2 "IGNT|NAGCT1|bA421M1.1|bA360O19.2|ULG3" "Ii blood group|unassigned linkage group 3" "NACGT1|II|GCNT5|CCAT" "glucosaminyl (N-acetyl) transferase 5|cataract, congenital|glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)" "Glucosaminyl (N-acetyl) transferases/xylosyltransferases|Blood group antigens" "441|454" 1993-09-07 2018-02-22 2023-01-20 2651 ENSG00000111846 OTTHUMG00000014244 uc010jol.4 L41605 NM_145649 "CCDS34338|CCDS4512|CCDS4513" Q8N0V5 "8449405|9915862" MGI:1100870 RGD:1303198 LRG_819|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_819.xml 600429 426937 2.4.1.150 HGNC:4204 "ENST00000495262.7|NM_145649.5" HGNC:4204 HGNC:21623 GCNT2P1 GCNT2 pseudogene 1 pseudogene pseudogene Approved 6p24.2 06p24.2 bA421M1.3 "GCNT6|GCNT2P" "glucosaminyl (N-acetyl) transferase 6|GCNT2 pseudogene" 2003-11-26 2018-10-18 2018-10-18 2018-10-18 644378 ENSG00000205318 OTTHUMG00000014243 NG_055911 HGNC:21623 HGNC:4205 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "C2GnT-M|C2/4GnT|C2GnT2" Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 1999-02-26 2023-01-20 9245 ENSG00000140297 OTTHUMG00000132726 uc002age.4 AF102542 NM_004751 CCDS10172 O95395 "9915862|9988682" MGI:1919327 RGD:631333 606836 "2.4.1.102|2.4.1.150" HGNC:4205 "ENST00000396065.3|NM_004751.3" HGNC:17973 GCNT4 glucosaminyl (N-acetyl) transferase 4 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 C2GNT3 "core 2 beta-1,6-N-acetylglucosaminyltransferase 3|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4" LINC01336 "glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)|glucosaminyl (N-acetyl) transferase 4, core 2|long intergenic non-protein coding RNA 1336" Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 2006-02-06 2018-10-18 2023-01-20 51301 ENSG00000176928 OTTHUMG00000131272 uc003kdn.4 AF132035 NM_016591 CCDS4026 Q9P109 10753916 MGI:2684919 RGD:1563891 616782 2.4.1.102 HGNC:17973 "ENST00000652361.2|NM_001366737.1" HGNC:16099 GCNT7 glucosaminyl (N-acetyl) transferase family member 7 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 dJ1153D9.2 C20orf105 chromosome 20 open reading frame 105 Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 2001-07-17 2007-07-03 2007-07-03 2016-10-05 140687 ENSG00000124091 OTTHUMG00000032798 uc061xww.1 "AL109806|AK131203" NM_080615 Q6ZNI0 MGI:3606143 RGD:7496421 2.4.1.- HGNC:16099 HGNC:26424 GCOM1 GCOM1, MYZAP-POLR2M combined locus other readthrough Approved 15q21.3 15q21.3 "FLJ30973|GRINL1A|MYZAP-POLR2M" MYZAP-POLR2M readthrough GRINL1A complex locus 1 2008-08-05 2020-12-17 2023-03-15 145781 ENSG00000137878 OTTHUMG00000176411 uc002aem.4 NM_001018090 "15233991|18849881" MGI:2142908 HGNC:26424 -HGNC:20253 GCSAM germinal center associated signaling and motility protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "MGC40441|HGAL" human germinal center-associated lymphoma GCET2 germinal center expressed transcript 2 2003-01-15 2012-08-23 2016-04-04 2023-03-15 257144 ENSG00000174500 OTTHUMG00000159231 uc003dys.2 BC030506 NM_152785 "CCDS54621|CCDS54622|CCDS2964" Q8N6F7 MGI:102969 RGD:1591321 607792 HGNC:20253 "ENST00000308910.9|NM_152785.5" -HGNC:29583 GCSAML germinal center associated signaling and motility like protein-coding gene gene with protein product Approved 1q44 01q44 FLJ44728 C1orf150 chromosome 1 open reading frame 150 2005-07-13 2012-08-23 2016-06-02 2023-01-20 148823 ENSG00000169224 OTTHUMG00000040648 uc031vul.1 AK126682 NM_145278 "CCDS73058|CCDS1635|CCDS60470" Q5JQS6 HGNC:29583 "ENST00000366488.5|NM_145278.5" +HGNC:20253 GCSAM germinal center associated signaling and motility protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "MGC40441|HGAL" human germinal center-associated lymphoma GCET2 germinal center expressed transcript 2 2003-01-15 2012-08-23 2016-04-04 2023-03-15 257144 ENSG00000174500 OTTHUMG00000159231 uc003dys.2 BC030506 NM_152785 "CCDS2964|CCDS54621|CCDS54622" Q8N6F7 MGI:102969 RGD:1591321 607792 HGNC:20253 "ENST00000308910.9|NM_152785.5" +HGNC:29583 GCSAML germinal center associated signaling and motility like protein-coding gene gene with protein product Approved 1q44 01q44 FLJ44728 C1orf150 chromosome 1 open reading frame 150 2005-07-13 2012-08-23 2016-06-02 2023-01-20 148823 ENSG00000169224 OTTHUMG00000040648 uc031vul.1 AK126682 NM_145278 "CCDS73058|CCDS60470|CCDS1635" Q5JQS6 HGNC:29583 "ENST00000366488.5|NM_145278.5" HGNC:41244 GCSAML-AS1 GCSAML antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q44 01q44 Antisense RNAs 1987 2012-08-23 2018-02-07 148824 OTTHUMG00000040649 uc057ram.1 NR_027309 GCSAML-AS1 HGNC:41244 HGNC:4208 GCSH glycine cleavage system protein H protein-coding gene gene with protein product Approved 16q23.2 16q23.2 lipoic acid-containing protein glycine cleavage system protein H (aminomethyl carrier) 1992-04-08 2016-03-17 2023-01-20 2653 ENSG00000140905 OTTHUMG00000137626 uc002fgd.4 M69175 NM_004483 CCDS10933 P23434 "1671321|2025283" MGI:1915383 RGD:619946 LRG_541|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_541.xml 238330 122062 objectId:3098 HGNC:4208 "ENST00000315467.9|NM_004483.5" HGNC:4208 HGNC:43922 GCSHP1 GCSH pseudogene 1 pseudogene pseudogene Approved 5p13.1 05p13.1 "glycine cleavage system protein H (aminomethyl carrier) pseudogene 1|glycine cleavage system protein H pseudogene 1" 2012-05-04 2022-10-19 2022-10-19 106480441 ENSG00000248651 OTTHUMG00000162068 NG_043382 PGOHUM00000235199 HGNC:43922 @@ -10105,10 +10106,10 @@ HGNC:43930 GCSHP4 GCSH pseudogene 4 pseudogene pseudogene Approved 12p13.31 12p1 HGNC:44195 GCSHP5 GCSH pseudogene 5 pseudogene pseudogene Approved 1q24.2 01q24.2 glycine cleavage system protein H pseudogene 5 2012-06-30 2022-10-19 2022-10-19 100329108 ENSG00000224837 OTTHUMG00000034577 NG_029194 HGNC:44195 HGNC:56417 GCSHP6 GCSH pseudogene 6 pseudogene pseudogene Approved 3p21.31 03p21.31 2022-10-19 2022-10-19 127379698 ENSG00000270538 NG_115699 PGOHUM00000299030 HGNC:54400 GCSIR GPR55 cis regulatory suppressor of immune response RNA non-coding RNA RNA, long non-coding Approved 2q37.1 02q37.1 Lnc-ITM2C-1 Long non-coding RNAs with non-systematic symbols 1992 2019-06-20 2019-06-20 151484 ENSG00000232520 NR_038238 31200545 HGNC:54400 -HGNC:4212 GDA guanine deaminase protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "CYPIN|GAH" "cytoplasmic PSD-95 interactor|guanase|guanine aminohydrolase|nedasin" M38 metallopeptidases 1446 1999-05-05 2023-01-20 9615 ENSG00000119125 OTTHUMG00000020005 uc004aiq.4 AF095286 NM_001242505 "CCDS56576|CCDS56577|CCDS6641" Q9Y2T3 "10075721|3966794|29294243|10845757" MGI:95678 RGD:621617 139260 M38.981 HGNC:4212 "ENST00000358399.8|NM_004293.5" -HGNC:15968 GDAP1 ganglioside induced differentiation associated protein 1 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 "CMT4|CMT2K" CMT4A Charcot-Marie-Tooth neuropathy 4A 2001-06-25 2012-02-09 2023-01-20 54332 ENSG00000104381 OTTHUMG00000164509 uc003yah.4 NM_018972 "CCDS34911|CCDS94319|CCDS94317|CCDS47877|CCDS94318" Q8TB36 "8268915|11743579" MGI:1338002 RGD:1309005 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_244|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_244.xml" 606598 122064 HGNC:15968 "ENST00000220822.12|NM_018972.4" HGNC:15968 -HGNC:4213 GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 ganglioside induced differentiation associated protein 1-like 1 2000-06-15 2016-06-16 2023-01-20 78997 ENSG00000124194 OTTHUMG00000032530 uc002xlq.5 NM_024034 "CCDS74726|CCDS74727|CCDS74725|CCDS13328" Q96MZ0 MGI:2385163 RGD:1304960 HGNC:4213 "ENST00000342560.10|NM_024034.6" -HGNC:18010 GDAP2 ganglioside induced differentiation associated protein 2 protein-coding gene gene with protein product Approved 1p12 01p12 "FLJ20142|dJ776P7.1|MACROD3" "BCH domain containing |Macro domain containing" "1299|1693" 2002-01-16 2023-01-20 54834 ENSG00000196505 OTTHUMG00000012199 uc001ehf.4 AK000149 NM_017686 "CCDS44201|CCDS897" Q9NXN4 1021725 MGI:1338001 RGD:1306050 618128 HGNC:18010 "ENST00000369443.10|NM_017686.4" HGNC:18010 +HGNC:4212 GDA guanine deaminase protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "CYPIN|GAH" "cytoplasmic PSD-95 interactor|guanase|guanine aminohydrolase|nedasin" M38 metallopeptidases 1446 1999-05-05 2023-01-20 9615 ENSG00000119125 OTTHUMG00000020005 uc004aiq.4 AF095286 NM_001242505 "CCDS56576|CCDS6641|CCDS56577" Q9Y2T3 "10075721|3966794|29294243|10845757" MGI:95678 RGD:621617 139260 M38.981 HGNC:4212 "ENST00000358399.8|NM_004293.5" +HGNC:15968 GDAP1 ganglioside induced differentiation associated protein 1 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 "CMT4|CMT2K" CMT4A Charcot-Marie-Tooth neuropathy 4A 2001-06-25 2012-02-09 2023-01-20 54332 ENSG00000104381 OTTHUMG00000164509 uc003yah.4 NM_018972 "CCDS94317|CCDS94319|CCDS34911|CCDS47877|CCDS94318" Q8TB36 "8268915|11743579" MGI:1338002 RGD:1309005 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_244|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_244.xml" 606598 122064 HGNC:15968 "ENST00000220822.12|NM_018972.4" HGNC:15968 +HGNC:4213 GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 ganglioside induced differentiation associated protein 1-like 1 2000-06-15 2016-06-16 2023-01-20 78997 ENSG00000124194 OTTHUMG00000032530 uc002xlq.5 NM_024034 "CCDS13328|CCDS74726|CCDS74727|CCDS74725" Q96MZ0 MGI:2385163 RGD:1304960 HGNC:4213 "ENST00000342560.10|NM_024034.6" +HGNC:18010 GDAP2 ganglioside induced differentiation associated protein 2 protein-coding gene gene with protein product Approved 1p12 01p12 "FLJ20142|dJ776P7.1|MACROD3" "BCH domain containing |Macro domain containing" "1299|1693" 2002-01-16 2023-01-20 54834 ENSG00000196505 OTTHUMG00000012199 uc001ehf.4 AK000149 NM_017686 "CCDS897|CCDS44201" Q9NXN4 1021725 MGI:1338001 RGD:1306050 618128 HGNC:18010 "ENST00000369443.10|NM_017686.4" HGNC:18010 HGNC:29644 GDE1 glycerophosphodiester phosphodiesterase 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 MIR16 membrane interacting protein of RGS16 2008-01-25 2023-01-20 51573 ENSG00000006007 OTTHUMG00000131454 uc002dgh.4 NM_016641 CCDS10578 Q9NZC3 "12576545|16472945" MGI:1891827 RGD:621788 605943 3.1.4.46 HGNC:29644 "ENST00000353258.8|NM_016641.4" HGNC:4214 GDF1 growth differentiation factor 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 Transforming growth factor beta superfamily 1932 1997-09-12 2023-01-20 2657 ENSG00000130283 OTTHUMG00000183278 uc060vuk.1 M62302 NM_001492 CCDS42526 P27539 2034669 MGI:95683 RGD:1304678 602880 166892 ligandId:4936 HGNC:4214 "ENST00000247005.8|NM_001492.6" HGNC:4214 HGNC:4217 GDF2 growth differentiation factor 2 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "BMP-9|BMP9" Transforming growth factor beta superfamily 1932 1997-09-12 2023-01-20 2658 ENSG00000263761 OTTHUMG00000188320 uc001jfa.2 AF156891 NM_016204 CCDS73118 Q9UK05 10849432 MGI:1321394 RGD:1586196 605120 364602 ligandId:4889 HGNC:4217 "ENST00000581492.3|NM_016204.4" HGNC:4217 @@ -10117,24 +10118,24 @@ HGNC:4220 GDF5 growth differentiation factor 5 protein-coding gene gene with pro HGNC:33435 GDF5-AS1 GDF5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 GDF5OS growth differentiation factor 5 opposite strand Antisense RNAs 1987 2007-04-12 2019-10-30 2019-10-30 2023-03-15 554250 ENSG00000204183 OTTHUMG00000055985 uc061wmk.1 BC085019 NR_161326 Q5U4N7 HGNC:33435 HGNC:4221 GDF6 growth differentiation factor 6 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "BMP13|KFS|KFS1" SGM1 segmentation syndrome 1 Transforming growth factor beta superfamily 1932 1999-04-23 2023-01-20 392255 ENSG00000156466 OTTHUMG00000164710 uc003yhp.3 NM_001001557 CCDS34926 Q6KF10 "10022976|18425797" MGI:95689 RGD:620104 601147 209481 ligandId:4878 HGNC:4221 "ENST00000287020.7|NM_001001557.4" HGNC:4221 HGNC:4222 GDF7 growth differentiation factor 7 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 BMP12 Transforming growth factor beta superfamily 1932 1999-04-23 2023-01-20 151449 ENSG00000143869 OTTHUMG00000090781 uc002rdz.2 AF522369 NM_182828 CCDS1701 Q7Z4P5 "10022976|9808626" MGI:95690 RGD:620105 604651 ligandId:4877 HGNC:4222 "ENST00000272224.5|NM_182828.4" -HGNC:4224 GDF9 growth differentiation factor 9 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 Transforming growth factor beta superfamily 1932 1997-09-12 2023-01-20 2661 ENSG00000164404 OTTHUMG00000059842 uc011cxj.3 NM_005260 "CCDS4162|CCDS75299" O60383 7760846 MGI:95692 RGD:71038 601918 400603 ligandId:4939 HGNC:4224 "ENST00000687138.1|NM_005260.7" HGNC:4224 +HGNC:4224 GDF9 growth differentiation factor 9 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 Transforming growth factor beta superfamily 1932 1997-09-12 2023-01-20 2661 ENSG00000164404 OTTHUMG00000059842 uc011cxj.3 NM_005260 "CCDS75299|CCDS4162" O60383 7760846 MGI:95692 RGD:71038 601918 400603 ligandId:4939 HGNC:4224 "ENST00000687138.1|NM_005260.7" HGNC:4224 HGNC:4215 GDF10 growth differentiation factor 10 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 BMP-3b Transforming growth factor beta superfamily 1932 1997-09-12 2023-01-20 2662 ENSG00000266524 OTTHUMG00000188319 uc001jfb.4 L42113 NM_004962 CCDS73117 P55107 8679252 MGI:95684 RGD:621512 601361 ligandId:4937 HGNC:4215 "ENST00000580279.2|NM_004962.5" HGNC:4216 GDF11 growth differentiation factor 11 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "BMP-11|BMP11" Transforming growth factor beta superfamily 1932 1999-12-02 2023-01-20 10220 ENSG00000135414 OTTHUMG00000170188 uc001shq.4 AF100907 NM_005811 CCDS8891 O95390 15988002 MGI:1338027 RGD:2673 603936 ligandId:4876 HGNC:4216 "ENST00000257868.10|NM_005811.5" HGNC:30142 GDF15 growth differentiation factor 15 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "PLAB|MIC-1|PDF|MIC1|NAG-1|PTGFB" "prostate differentiation factor|non-steroidal anti-inflammatory drug-activated gene-1|macrophage inhibitory cytokine-1" "MicroRNA protein coding host genes|Transforming growth factor beta superfamily" "1691|1932" 2004-02-12 2023-01-20 9518 ENSG00000130513 OTTHUMG00000183360 uc002niv.2 BC008962 NM_004864 CCDS12376 Q99988 "11895857|9593718" MGI:1346047 RGD:2674 605312 470374 ligandId:9735 HGNC:30142 "ENST00000252809.3|NM_004864.4" HGNC:4226 GDI1 GDP dissociation inhibitor 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "RABGDIA|XAP-4|OPHN2|FLJ41411" "mental retardation, X-linked 41|mental retardation, X-linked 48|rab GDP-dissociation inhibitor, alpha" "MRX48|MRX41|GDIL" 1997-11-11 2023-01-20 2664 ENSG00000203879 OTTHUMG00000033293 uc004fli.5 X79353 NM_001493 CCDS35452 P31150 "7543319|7849400" MGI:99846 RGD:2676 300104 122069 HGNC:4226 "ENST00000447750.7|NM_001493.3" HGNC:4226 -HGNC:4227 GDI2 GDP dissociation inhibitor 2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 RABGDIB rab GDP-dissociation 1997-11-11 2023-01-20 2665 ENSG00000057608 OTTHUMG00000017607 uc001iil.4 D13988 NM_001494 "CCDS7071|CCDS44352" P50395 9434952 MGI:99845 RGD:61802 600767 HGNC:4227 "ENST00000380191.9|NM_001494.4" +HGNC:4227 GDI2 GDP dissociation inhibitor 2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 RABGDIB rab GDP-dissociation 1997-11-11 2023-01-20 2665 ENSG00000057608 OTTHUMG00000017607 uc001iil.4 D13988 NM_001494 "CCDS44352|CCDS7071" P50395 9434952 MGI:99845 RGD:61802 600767 HGNC:4227 "ENST00000380191.9|NM_001494.4" HGNC:4228 GDI2P1 GDP dissociation inhibitor 2 pseudogene 1 pseudogene pseudogene Approved 7p12.3 07p12.3 rab GDP-dissociation GDI2P GDP dissociation inhibitor 2 pseudogene 1998-04-28 2010-03-16 2010-03-16 2014-11-19 2667 ENSG00000229165 OTTHUMG00000155842 Y13298 NG_001124 9434952 PGOHUM00000232683 HGNC:4228 HGNC:37976 GDI2P2 GDP dissociation inhibitor 2 pseudogene 2 pseudogene pseudogene Approved 1p31.1 01p31.1 2010-03-16 2014-11-19 100420259 ENSG00000233994 OTTHUMG00000009454 NG_022783 PGOHUM00000244755 HGNC:37976 -HGNC:4232 GDNF glial cell derived neurotrophic factor protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "ATF1|ATF2|HFB1-GDNF" "astrocyte-derived trophic factor|glial cell line derived neurotrophic factor|glial derived neurotrophic factor" GDNF family ligands 1586 1995-05-04 2023-01-20 2668 ENSG00000168621 OTTHUMG00000090809 uc063dca.1 NM_000514 "CCDS3923|CCDS3922|CCDS54846|CCDS75237|CCDS54845" P39905 8493557 MGI:107430 RGD:2677 600837 122076 ligandId:4940 HGNC:4232 "ENST00000326524.7|NM_000514.4" +HGNC:4232 GDNF glial cell derived neurotrophic factor protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "ATF1|ATF2|HFB1-GDNF" "astrocyte-derived trophic factor|glial cell line derived neurotrophic factor|glial derived neurotrophic factor" GDNF family ligands 1586 1995-05-04 2023-01-20 2668 ENSG00000168621 OTTHUMG00000090809 uc063dca.1 NM_000514 "CCDS3923|CCDS3922|CCDS54846|CCDS54845|CCDS75237" P39905 8493557 MGI:107430 RGD:2677 600837 122076 ligandId:4940 HGNC:4232 "ENST00000326524.7|NM_000514.4" HGNC:43592 GDNF-AS1 GDNF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 GDNFOS GDNF opposite strand "GDNF antisense RNA 1 (non-protein coding)|GDNF antisense RNA 1|GDNF antisense RNA 1 (head to head)" Antisense RNAs 1987 2011-11-16 2018-03-22 2018-03-22 100861519 ENSG00000248587 OTTHUMG00000162110 uc021xxo.2 DA359107 NR_103441 22081608 gdnf-as1 GDNF-AS1 HGNC:43592 HGNC:20883 GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 protein-coding gene gene with protein product Approved 17q22 17q22 "FLJ37451|GDE4" 2005-01-11 2023-01-20 284161 ENSG00000153982 OTTHUMG00000179376 uc002ixk.3 AK094770 NM_182569 "CCDS11616|CCDS58584|CCDS58583" Q8N9F7 14612981 MGI:1913819 RGD:1311813 616317 HGNC:20883 "ENST00000284116.9|NM_182569.4" HGNC:20883 HGNC:25974 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "OBDPF|FLJ20207|GDE3" osteoblast differentiation promoting factor 2004-04-23 2023-01-20 54857 ENSG00000130055 OTTHUMG00000021776 uc004dyh.4 AK000214 NM_017711 "CCDS55438|CCDS14402|CCDS55437" Q9HCC8 12975309 MGI:1918834 RGD:1560780 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GDPD2 300940 HGNC:25974 "ENST00000374382.4|NM_017711.4" HGNC:28638 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC4171 2005-03-15 2023-01-20 79153 ENSG00000102886 OTTHUMG00000132106 uc002dwp.4 AK026256 NM_024307 CCDS10671 Q7L5L3 MGI:1915866 RGD:1308386 616318 HGNC:28638 "ENST00000406256.8|NM_024307.3" HGNC:24849 GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 GDE6 2005-03-15 2023-01-20 220032 ENSG00000178795 OTTHUMG00000165136 uc001oyf.3 AY326450 NM_182833 CCDS8249 Q6W3E5 MGI:3606573 RGD:1585799 HGNC:24849 "ENST00000315938.5|NM_182833.3" -HGNC:28804 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 protein-coding gene gene with protein product Approved 11q13.4-q13.5 11q13.4-q13.5 "PP1665|GDE2" 2005-03-15 2023-01-20 81544 ENSG00000158555 OTTHUMG00000165484 uc001owp.5 AF318377 NM_030792 "CCDS86229|CCDS8238|CCDS86230" Q8WTR4 "18667693|17275818" MGI:2686926 RGD:1559673 609632 HGNC:28804 "ENST00000336898.8|NM_030792.8" +HGNC:28804 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 protein-coding gene gene with protein product Approved 11q13.4-q13.5 11q13.4-q13.5 "PP1665|GDE2" 2005-03-15 2023-01-20 81544 ENSG00000158555 OTTHUMG00000165484 uc001owp.5 AF318377 NM_030792 "CCDS86229|CCDS86230|CCDS8238" Q8WTR4 "18667693|17275818" MGI:2686926 RGD:1559673 609632 HGNC:28804 "ENST00000336898.8|NM_030792.8" HGNC:34360 GDPGP1 GDP-D-glucose phosphorylase 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 C15orf58 chromosome 15 open reading frame 58 2008-07-02 2012-05-04 2012-05-04 2023-01-20 390637 ENSG00000183208 OTTHUMG00000172128 uc059ned.1 NM_001013657 CCDS32327 Q6ZNW5 21507950 MGI:2443429 RGD:1560277 619240 2.7.7.78 HGNC:34360 "ENST00000329600.8|NM_001013657.3" HGNC:4234 GEM GTP binding protein overexpressed in skeletal muscle protein-coding gene gene with protein product Approved 8q22.1 08q22.1 KIR kinase-inducible Ras-like protein GTP-binding protein overexpressed in skeletal muscle RGK type GTPase family 1260 1995-08-15 2001-11-28 2023-01-20 2669 ENSG00000164949 OTTHUMG00000164392 uc003ygi.4 NM_181702 CCDS6261 P55040 "7912851|11956230" MGI:99844 RGD:1307386 600164 HGNC:4234 "ENST00000297596.3|NM_005261.4" -HGNC:10884 GEMIN2 gem nuclear organelle associated protein 2 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 SIP1 "survival of motor neuron protein interacting protein 1|gem (nuclear organelle) associated protein 2" Gemins 1131 1998-10-16 2011-08-04 2015-11-06 2023-01-20 8487 ENSG00000092208 OTTHUMG00000028816 uc001wuq.4 AF027150 NM_001009182 "CCDS41946|CCDS9669|CCDS32068" O14893 "9323130|9323129|11121410" MGI:1913853 RGD:620842 602595 HGNC:10884 "ENST00000308317.12|NM_003616.3" +HGNC:10884 GEMIN2 gem nuclear organelle associated protein 2 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 SIP1 "survival of motor neuron protein interacting protein 1|gem (nuclear organelle) associated protein 2" Gemins 1131 1998-10-16 2011-08-04 2015-11-06 2023-01-20 8487 ENSG00000092208 OTTHUMG00000028816 uc001wuq.4 AF027150 NM_001009182 "CCDS41946|CCDS32068|CCDS9669" O14893 "9323130|9323129|11121410" MGI:1913853 RGD:620842 602595 HGNC:10884 "ENST00000308317.12|NM_003616.3" HGNC:49561 GEMIN2P1 gem nuclear organelle associated protein 2 pseudogene 1 pseudogene pseudogene Approved 1q21.3 01q21.3 gem (nuclear organelle) associated protein 2 pseudogene 1 2014-01-14 2015-11-06 2015-11-06 101929669 ENSG00000235015 OTTHUMG00000037088 PGOHUM00000264153 HGNC:49561 HGNC:49562 GEMIN2P2 gem nuclear organelle associated protein 2 pseudogene 2 pseudogene pseudogene Approved 3p22.1 03p22.1 gem (nuclear organelle) associated protein 2 pseudogene 2 2014-01-14 2015-11-06 2015-11-06 100287063 ENSG00000235339 OTTHUMG00000156200 PGOHUM00000238007 HGNC:49562 HGNC:15717 GEMIN4 gem nuclear organelle associated protein 4 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "HHRF-1|DKFZP434B131|p97|DKFZP434D174|HC56|HCAP1" "HCC-associated protein 1|component of gems 4" gem (nuclear organelle) associated protein 4 "Minor histocompatibility antigens|Gemins" "870|1131" 2001-08-07 2015-11-06 2023-01-20 50628 ENSG00000179409 OTTHUMG00000177495 uc002frs.2 AF177341 NM_015721 CCDS45559 P57678 10725331 MGI:2449313 RGD:1563715 606969 HGNC:15717 "ENST00000319004.6|NM_015721.3" HGNC:15717 @@ -10154,34 +10155,34 @@ HGNC:54635 GET1-SH3BGR GET1-SH3BGR readthrough other readthrough Approved 21q22. HGNC:44010 GET1P1 GET1 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 WRBP1 tryptophan rich basic protein pseudogene 1 2012-05-28 2021-03-24 2021-03-24 2021-03-24 256085 ENSG00000248633 OTTHUMG00000161560 NG_006948 PGOHUM00000250729 HGNC:44010 HGNC:752 GET3 guided entry of tail-anchored proteins factor 3, ATPase protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "ARSA-I|TRC40" "golgi to ER traffic 3 homolog (S. cerevisiae)|transmembrane domain recognition complex, 40kDa" ASNA1 arsA (bacterial) arsenite transporter, ATP-binding, homolog 1 "Guided entry of tail-anchored proteins complex subunits|GET4-GET5 transmembrane domain recognition complex subunits" "1912|1914" 1997-07-01 2019-05-17 2019-05-17 2023-01-20 439 ENSG00000198356 OTTHUMG00000180355 uc060uci.1 U60276 NM_004317 CCDS32920 O43681 "8884272|17382883" MGI:1928379 RGD:1307906 601913 3.6.3.16 HGNC:752 "ENST00000357332.8|NM_004317.4" HGNC:21690 GET4 guided entry of tail-anchored proteins factor 4 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "CGI-20|H_NH1244M04.5|CEE|TRC35" "CGI-20 protein|conserved edge protein|transmembrane domain recognition complex, 35kDa" C7orf20 "chromosome 7 open reading frame 20|golgi to ER traffic protein 4 homolog (S. cerevisiae)|golgi to ER traffic protein 4" "BAG6 complex|GET4-GET5 transmembrane domain recognition complex subunits" "1891|1914" 2003-07-09 2010-03-24 2019-05-17 2023-01-20 51608 ENSG00000239857 OTTHUMG00000112459 uc003sjl.2 AK023560 NM_015949 CCDS5317 Q7L5D6 "10810093|20106980|20676083" MGI:1914854 RGD:1311660 612056 HGNC:21690 "ENST00000265857.8|NM_015949.3" -HGNC:4235 GFAP glial fibrillary acidic protein protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ45472 intermediate filament protein Intermediate filaments Type III 610 1989-12-07 2023-01-20 2670 ENSG00000131095 OTTHUMG00000179866 uc002ihq.3 S40719 NM_002055 "CCDS11491|CCDS59296|CCDS86602|CCDS45708" P14136 9693047 MGI:95697 RGD:2679 137780 122078 HGNC:4235 "ENST00000588735.3|NM_002055.5" HGNC:4235 +HGNC:4235 GFAP glial fibrillary acidic protein protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ45472 intermediate filament protein Intermediate filaments Type III 610 1989-12-07 2023-01-20 2670 ENSG00000131095 OTTHUMG00000179866 uc002ihq.3 S40719 NM_002055 "CCDS59296|CCDS86602|CCDS11491|CCDS45708" P14136 9693047 MGI:95697 RGD:2679 137780 122078 HGNC:4235 "ENST00000588735.3|NM_002055.5" HGNC:4235 HGNC:4236 GFER growth factor, augmenter of liver regeneration protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HSS|ERV1|ALR|HERV1|HPO1|HPO2" "ERV1 homolog (S. cerevisiae)|FAD-linked sulfhydryl oxidase ALR|hepatic regenerative stimulation substance" growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration) 1997-03-19 2008-08-01 2023-01-20 2671 ENSG00000127554 OTTHUMG00000176896 uc002cob.4 BC002429 NM_005262 CCDS32368 P55789 8575761 MGI:107757 RGD:61845 600924 331852 1.8.3.2 HGNC:4236 "ENST00000248114.7|NM_005262.3" HGNC:4236 HGNC:4237 GFI1 growth factor independent 1 transcriptional repressor protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "GFI1A|GFI-1" ZNF163 growth factor independent 1 "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 1994-10-17 2016-05-04 2023-01-20 2672 ENSG00000162676 OTTHUMG00000010897 uc001dow.5 U67369 NM_005263 CCDS30773 Q99684 7789186 MGI:103170 RGD:2680 "GFI1base: Mutation registry for SCN and NI-CINA|http://structure.bmc.lu.se/idbase/GFI1base/|LRG_63|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_63.xml" 600871 122080 HGNC:4237 "ENST00000294702.6|NM_005263.5" HGNC:4237 -HGNC:4238 GFI1B growth factor independent 1B transcriptional repressor protein-coding gene gene with protein product Approved 9q34.13 09q34.13 ZNF163B growth factor independent 1B (potential regulator of CDKN1A, translocated in CML) "Zinc fingers C2H2-type|SNAG transcriptional repressors|MicroRNA protein coding host genes" "28|1259|1691" 1998-09-17 2016-05-04 2023-01-20 8328 ENSG00000165702 OTTHUMG00000020848 uc064wsy.1 AF081946 NM_004188 "CCDS6957|CCDS94523|CCDS48049" Q5VTD9 9878267 MGI:1276578 RGD:1311727 LRG_879|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_879.xml 604383 390922 HGNC:4238 "ENST00000372122.4|NM_001377304.1" HGNC:4238 -HGNC:13780 GFM1 G elongation factor mitochondrial 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "EFGM|GFM|EGF1|mtEF-G1" G translation elongation factor, mitochondrial 2004-11-25 2016-07-05 2023-01-20 85476 ENSG00000168827 OTTHUMG00000158804 uc003fce.4 AF309777 NM_024996 "CCDS33885|CCDS82867|CCDS77851" Q96RP9 "11374907|11735030" MGI:107339 RGD:631396 606639 166715 HGNC:13780 "ENST00000486715.6|NM_024996.7" HGNC:13780 -HGNC:29682 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "EFG2|FLJ21661|EF-G2mt" ribosome releasing factor 2 G elongation factor mitochondrial 2 2004-09-30 2020-01-09 2023-01-20 84340 ENSG00000164347 OTTHUMG00000102058 uc003kdh.2 AF111808 NM_032380 "CCDS4023|CCDS4024|CCDS47232" Q969S9 "11735030|19716793" MGI:2444783 RGD:1309854 606544 470376 HGNC:29682 "ENST00000296805.8|NM_032380.5" HGNC:29682 +HGNC:4238 GFI1B growth factor independent 1B transcriptional repressor protein-coding gene gene with protein product Approved 9q34.13 09q34.13 ZNF163B growth factor independent 1B (potential regulator of CDKN1A, translocated in CML) "Zinc fingers C2H2-type|SNAG transcriptional repressors|MicroRNA protein coding host genes" "28|1259|1691" 1998-09-17 2016-05-04 2023-01-20 8328 ENSG00000165702 OTTHUMG00000020848 uc064wsy.1 AF081946 NM_004188 "CCDS48049|CCDS94523|CCDS6957" Q5VTD9 9878267 MGI:1276578 RGD:1311727 LRG_879|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_879.xml 604383 390922 HGNC:4238 "ENST00000372122.4|NM_001377304.1" HGNC:4238 +HGNC:13780 GFM1 G elongation factor mitochondrial 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "EFGM|GFM|EGF1|mtEF-G1" G translation elongation factor, mitochondrial 2004-11-25 2016-07-05 2023-01-20 85476 ENSG00000168827 OTTHUMG00000158804 uc003fce.4 AF309777 NM_024996 "CCDS77851|CCDS82867|CCDS33885" Q96RP9 "11374907|11735030" MGI:107339 RGD:631396 606639 166715 HGNC:13780 "ENST00000486715.6|NM_024996.7" HGNC:13780 +HGNC:29682 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "EFG2|FLJ21661|EF-G2mt" ribosome releasing factor 2 G elongation factor mitochondrial 2 2004-09-30 2020-01-09 2023-01-20 84340 ENSG00000164347 OTTHUMG00000102058 uc003kdh.2 AF111808 NM_032380 "CCDS47232|CCDS4024|CCDS4023" Q969S9 "11735030|19716793" MGI:2444783 RGD:1309854 606544 470376 HGNC:29682 "ENST00000296805.8|NM_032380.5" HGNC:29682 HGNC:21096 GFOD1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 protein-coding gene gene with protein product Approved 6p24.1-p23 06p24.1-p23 "FLJ20330|ADG-90" C6orf114 "chromosome 6 open reading frame 114|glucose-fructose oxidoreductase domain containing 1" Gfo/Idh/MocA-like oxidoreductase domain containing 2241 2003-05-19 2023-05-05 2023-05-05 54438 ENSG00000145990 OTTHUMG00000014276 uc003nat.3 AK000337 NM_018988 "CCDS64351|CCDS56397|CCDS4524" Q9NXC2 MGI:2145304 RGD:1311507 619932 HGNC:21096 "ENST00000379287.4|NM_018988.4" HGNC:40956 GFOD1-AS1 GFOD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p23 06p23 GFOD1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-30 2012-08-15 2021-06-28 100874025 ENSG00000237786 OTTHUMG00000014274 uc063lym.1 NR_046709 GFOD1-AS1 -HGNC:28159 GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ23802|MGC11335" glucose-fructose oxidoreductase domain containing 2 Gfo/Idh/MocA-like oxidoreductase domain containing 2241 2006-04-06 2023-05-05 2023-05-05 81577 ENSG00000141098 OTTHUMG00000137537 uc002eub.4 AK074382 NM_030819 "CCDS59268|CCDS10845" Q3B7J2 12975309 MGI:1917825 RGD:1311198 619933 HGNC:28159 "ENST00000268797.12|NM_030819.4" +HGNC:28159 GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ23802|MGC11335" glucose-fructose oxidoreductase domain containing 2 Gfo/Idh/MocA-like oxidoreductase domain containing 2241 2006-04-06 2023-05-05 2023-05-05 81577 ENSG00000141098 OTTHUMG00000137537 uc002eub.4 AK074382 NM_030819 "CCDS10845|CCDS59268" Q3B7J2 12975309 MGI:1917825 RGD:1311198 619933 HGNC:28159 "ENST00000268797.12|NM_030819.4" HGNC:29052 GFOD3P Gfo/Idh/MocA-like oxidoreductase domain containing 3, pseudogene non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 PDAM p53-dependent apoptosis modulator "KIAA0495|TP73-AS1" "KIAA0495|TP73 antisense RNA 1" 2009-06-19 2023-05-26 2023-05-26 2023-05-26 57212 ENSG00000227372 OTTHUMG00000003414 uc009vlm.4 NR_033708 "20477830|23726844|28403886" TP73-AS1 HGNC:29052 HGNC:4241 GFPT1 glutamine--fructose-6-phosphate transaminase 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "GFAT|GFA|GFAT1" GFPT glutamine-fructose-6-phosphate transaminase 1 1993-12-14 2010-05-11 2023-01-20 2673 ENSG00000198380 OTTHUMG00000152666 uc002sfh.4 NM_001244710 "CCDS33216|CCDS58713" Q06210 1460020 MGI:95698 RGD:1549703 LRG_787|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_787.xml 138292 259368 C44.970 2.6.1.16 HGNC:4241 "ENST00000357308.9|NM_001244710.2" HGNC:4241 HGNC:4242 GFPT2 glutamine-fructose-6-phosphate transaminase 2 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 GFAT2 glutamine: fructose-6-phosphate aminotransferase 2 1999-05-06 2023-01-20 9945 ENSG00000131459 OTTHUMG00000163442 uc003mlw.2 AB016789 NM_005110 CCDS43411 O94808 10198162 MGI:1338883 RGD:1303097 603865 470378 C44.972 HGNC:4242 "ENST00000253778.13|NM_005110.4" -HGNC:4243 GFRA1 GDNF family receptor alpha 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "RETL1|GDNFR|GFR-ALPHA-1|RET1L|TRNR1" GDNFRA 1997-01-17 2023-01-20 2674 ENSG00000151892 OTTHUMG00000019097 uc009xyr.4 AF038421 NM_145793 "CCDS44481|CCDS7593" P56159 "9465905|9545641" MGI:1100842 RGD:2681 601496 objectId:1743 HGNC:4243 "ENST00000355422.11|NM_005264.8" -HGNC:4244 GFRA2 GDNF family receptor alpha 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "RETL2|GDNFRB|NTNRA|TRNR2" 1997-10-21 2023-01-20 2675 ENSG00000168546 OTTHUMG00000163897 uc064kuz.1 AF002700 NM_001495 "CCDS55208|CCDS47816|CCDS55207" O00451 9177201 MGI:1195462 RGD:61809 601956 objectId:1744 HGNC:4244 "ENST00000524240.6|NM_001495.5" +HGNC:4243 GFRA1 GDNF family receptor alpha 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "RETL1|GDNFR|GFR-ALPHA-1|RET1L|TRNR1" GDNFRA 1997-01-17 2023-01-20 2674 ENSG00000151892 OTTHUMG00000019097 uc009xyr.4 AF038421 NM_145793 "CCDS7593|CCDS44481" P56159 "9465905|9545641" MGI:1100842 RGD:2681 601496 objectId:1743 HGNC:4243 "ENST00000355422.11|NM_005264.8" +HGNC:4244 GFRA2 GDNF family receptor alpha 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "RETL2|GDNFRB|NTNRA|TRNR2" 1997-10-21 2023-01-20 2675 ENSG00000168546 OTTHUMG00000163897 uc064kuz.1 AF002700 NM_001495 "CCDS47816|CCDS55208|CCDS55207" O00451 9177201 MGI:1195462 RGD:61809 601956 objectId:1744 HGNC:4244 "ENST00000524240.6|NM_001495.5" HGNC:4245 GFRA3 GDNF family receptor alpha 3 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 GFRa-3 1998-02-27 2023-01-20 2676 ENSG00000146013 OTTHUMG00000129200 uc003lcn.4 AY358997 NM_001496 CCDS4201 O60609 9407096 MGI:1201403 RGD:620502 605710 objectId:1745 HGNC:4245 "ENST00000274721.8|NM_001496.4" -HGNC:13821 GFRA4 GDNF family receptor alpha 4 protein-coding gene gene with protein product Approved 20p13 20p13 persephin receptor 2001-01-18 2023-03-15 64096 ENSG00000125861 OTTHUMG00000031748 uc002wio.4 AF253318 NM_145762 "CCDS13056|CCDS13055" Q9GZZ7 "10958791|15225646" MGI:1341873 RGD:620503 618679 objectId:1746 HGNC:13821 "ENST00000290417.7|NM_022139.4" +HGNC:13821 GFRA4 GDNF family receptor alpha 4 protein-coding gene gene with protein product Approved 20p13 20p13 persephin receptor 2001-01-18 2023-03-15 64096 ENSG00000125861 OTTHUMG00000031748 uc002wio.4 AF253318 NM_145762 "CCDS13055|CCDS13056" Q9GZZ7 "10958791|15225646" MGI:1341873 RGD:620503 618679 objectId:1746 HGNC:13821 "ENST00000290417.7|NM_022139.4" HGNC:32789 GFRAL GDNF family receptor alpha like protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "GRAL|UNQ9356|bA360D14.1" C6orf144 chromosome 6 open reading frame 144 2006-05-18 2023-01-20 389400 ENSG00000187871 OTTHUMG00000014900 uc003pcm.1 AY358198 NM_207410 CCDS4957 Q6UXV0 "16086688|28846097|28846098|28846099" MGI:3607786 RGD:1565220 617837 objectId:2977 HGNC:32789 "ENST00000340465.2|NM_207410.2" HGNC:12390 GFUS GDP-L-fucose synthase protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FX|P35B|SDR4E1" short chain dehydrogenase/reductase family 4E, member 1 TSTA3 tissue specific transplantation antigen P35B Short chain dehydrogenase/reductase superfamily 743 1998-03-20 2020-05-07 2020-05-07 2023-01-20 7264 ENSG00000104522 OTTHUMG00000165159 uc003yzb.3 U58766 NM_003313 CCDS6408 Q13630 "7803801|1348494|19027726" MGI:98857 RGD:1307028 137020 1.1.1.271 HGNC:12390 "ENST00000425753.7|NM_003313.4" HGNC:44663 GFY golgi associated olfactory signaling regulator protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Goofy Golgi protein in olfactory neurons 2014-01-10 2015-12-11 2023-01-20 100507003 ENSG00000261949 OTTHUMG00000177824 NM_001195256 CCDS58672 I3L273 23926254 MGI:2685427 RGD:6500406 618696 HGNC:44663 "ENST00000610896.3|NM_001195256.2" -HGNC:17842 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Golgi associated, gamma adaptin ear containing, ARF binding proteins 1031 2001-12-19 2016-06-08 2023-01-20 26088 ENSG00000100083 OTTHUMG00000030985 uc003atc.4 AF190862 NM_013365 "CCDS54526|CCDS87022|CCDS13951|CCDS33643" Q9UJY5 "10747088|10747089|16407204" MGI:2146207 RGD:1307770 606004 HGNC:17842 "ENST00000343632.9|NM_013365.5" +HGNC:17842 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Golgi associated, gamma adaptin ear containing, ARF binding proteins 1031 2001-12-19 2016-06-08 2023-01-20 26088 ENSG00000100083 OTTHUMG00000030985 uc003atc.4 AF190862 NM_013365 "CCDS54526|CCDS33643|CCDS87022|CCDS13951" Q9UJY5 "10747088|10747089|16407204" MGI:2146207 RGD:1307770 606004 HGNC:17842 "ENST00000343632.9|NM_013365.5" HGNC:16064 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "VEAR|KIAA1080" golgi-associated, gamma adaptin ear containing, ARF binding protein 2 Golgi associated, gamma adaptin ear containing, ARF binding proteins 1031 2001-12-19 2016-03-21 2023-03-15 23062 ENSG00000103365 OTTHUMG00000096957 uc002dlq.3 AF190863 NM_015044 CCDS10611 Q9UJY4 "10747088|10749927" MGI:1921355 RGD:1304800 606005 HGNC:16064 "ENST00000309859.8|NM_015044.4" -HGNC:17079 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA0154 golgi-associated, gamma adaptin ear containing, ARF binding protein 3 Golgi associated, gamma adaptin ear containing, ARF binding proteins 1031 2001-12-19 2016-03-30 2023-01-20 23163 ENSG00000125447 OTTHUMG00000179483 uc032frk.2 AF190864 NM_138619 "CCDS58597|CCDS11717|CCDS11716|CCDS54164" Q9NZ52 "10747089|10749927" MGI:2384159 RGD:1309553 606006 HGNC:17079 "ENST00000537686.6|NM_138619.4" +HGNC:17079 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA0154 golgi-associated, gamma adaptin ear containing, ARF binding protein 3 Golgi associated, gamma adaptin ear containing, ARF binding proteins 1031 2001-12-19 2016-03-30 2023-01-20 23163 ENSG00000125447 OTTHUMG00000179483 uc032frk.2 AF190864 NM_138619 "CCDS11716|CCDS58597|CCDS54164|CCDS11717" Q9NZ52 "10747089|10749927" MGI:2384159 RGD:1309553 606006 HGNC:17079 "ENST00000537686.6|NM_138619.4" HGNC:25100 GGACT gamma-glutamylamine cyclotransferase protein-coding gene gene with protein product Approved 13q32.3 13q32.3 A2LD1 AIG2-like domain 1 2008-08-12 2012-09-27 2012-09-27 2023-01-20 87769 ENSG00000134864 OTTHUMG00000017291 uc058yas.1 NM_033110 CCDS45066 Q9BVM4 20110353 MGI:2385008 RGD:1304748 613378 4.3.2.9 HGNC:25100 "ENST00000683975.1|NM_001195087.2" -HGNC:21705 GGCT gamma-glutamylcyclotransferase protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "MGC3077|CRF21|Ggc" "C7orf24|GCTG" chromosome 7 open reading frame 24 2003-07-14 2008-08-04 2010-04-23 2023-01-20 79017 ENSG00000006625 OTTHUMG00000128593 uc003tba.4 BC019243 NM_024051 "CCDS56475|CCDS56476|CCDS5428|CCDS56474" O75223 "17932939|18515354" MGI:95700 RGD:1304876 137170 objectId:1392 4.3.2.9 HGNC:21705 "ENST00000275428.9|NM_024051.4" +HGNC:21705 GGCT gamma-glutamylcyclotransferase protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "MGC3077|CRF21|Ggc" "C7orf24|GCTG" chromosome 7 open reading frame 24 2003-07-14 2008-08-04 2010-04-23 2023-01-20 79017 ENSG00000006625 OTTHUMG00000128593 uc003tba.4 BC019243 NM_024051 "CCDS5428|CCDS56476|CCDS56475|CCDS56474" O75223 "17932939|18515354" MGI:95700 RGD:1304876 137170 objectId:1392 4.3.2.9 HGNC:21705 "ENST00000275428.9|NM_024051.4" HGNC:54609 GGCTP1 GGCT pseudogene 1 pseudogene pseudogene Approved 5q15 05q15 2019-10-16 2019-10-16 100528061 ENSG00000251000 NG_028017 HGNC:54610 GGCTP2 GGCT pseudogene 2 pseudogene pseudogene Approved 20p11.23 20p11.23 2019-10-16 2019-10-16 100529052 ENSG00000232943 NG_028021 HGNC:54611 GGCTP3 GGCT pseudogene 3 pseudogene pseudogene Approved 2p16.3 02p16.3 2019-10-16 2019-10-16 100528063 ENSG00000225842 NG_028018 -HGNC:4247 GGCX gamma-glutamyl carboxylase protein-coding gene gene with protein product Approved 2p11.2 02p11.2 VKCFD1 "vitamin K-dependent gamma-carboxylase|peptidyl-glutamate 4-carboxylase" 1994-07-04 2023-01-20 2677 ENSG00000115486 OTTHUMG00000130173 uc002sps.4 NM_000821 "CCDS92792|CCDS1978|CCDS46353" P38435 1749935 MGI:1927655 RGD:68383 LRG_592|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_592.xml 137167 122083 objectId:1268 4.1.1.90 HGNC:4247 "ENST00000233838.9|NM_000821.7" HGNC:4247 +HGNC:4247 GGCX gamma-glutamyl carboxylase protein-coding gene gene with protein product Approved 2p11.2 02p11.2 VKCFD1 "vitamin K-dependent gamma-carboxylase|peptidyl-glutamate 4-carboxylase" 1994-07-04 2023-01-20 2677 ENSG00000115486 OTTHUMG00000130173 uc002sps.4 NM_000821 "CCDS46353|CCDS1978|CCDS92792" P38435 1749935 MGI:1927655 RGD:68383 LRG_592|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_592.xml 137167 122083 objectId:1268 4.1.1.90 HGNC:4247 "ENST00000233838.9|NM_000821.7" HGNC:4247 HGNC:4248 GGH gamma-glutamyl hydrolase protein-coding gene gene with protein product Approved 8q12.3 08q12.3 GATD10 "conjugase|folylpolygammaglutamyl hydrolase" Glutamine amidotransferase class 1 domain containing 1408 1999-02-10 2016-01-18 2023-01-20 8836 ENSG00000137563 OTTHUMG00000164365 uc003xuw.4 U55206 NM_001410926 "CCDS6177|CCDS94298" Q92820 "8816764|10570974" MGI:1329035 RGD:2682 601509 311355 C26.001 objectId:2367 3.4.19.9 HGNC:4248 "ENST00000260118.7|NM_003878.3" HGNC:18869 GGN gametogenetin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ35713|MGC33369" 2005-01-07 2023-01-20 199720 ENSG00000179168 OTTHUMG00000182080 uc002oij.2 AF538035 NM_152657 CCDS12516 Q86UU5 12574169 MGI:2181461 RGD:1306765 609966 HGNC:18869 "ENST00000334928.11|NM_152657.4" HGNC:19427 GGNBP1 gametogenetin binding protein 1 (pseudogene) pseudogene pseudogene Approved 6p21.31 06p21.31 gametogenetin binding protein 1 2007-08-20 2012-04-19 2015-01-16 449520 ENSG00000204188 OTTHUMG00000187092 NR_028361 Q5YKI7 15642376 MGI:3055306 RGD:1359729 609495 HGNC:19427 @@ -10191,8 +10192,8 @@ HGNC:4250 GGT1 gamma-glutamyltransferase 1 protein-coding gene gene with protein HGNC:4251 GGT2P gamma-glutamyltransferase 2, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 "GGT|GGT2" gamma-glutamyltransferase 2 Gamma-glutamyltransferases 564 1989-06-30 2022-01-06 2022-01-06 2022-01-06 728441 ENSG00000133475 OTTHUMG00000150617 uc062byb.1 M30474 NR_172944 P36268 "8104871|18357469" MGI:95706 137181 T03.015 2.3.2.2 HGNC:4251 HGNC:4252 GGT3P gamma-glutamyltransferase 3 pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 GGT3 gamma-glutamyltransferase 3 Gamma-glutamyltransferases 564 1992-08-04 2008-03-10 2008-03-10 2015-08-13 2679 ENSG00000197421 OTTHUMG00000150161 NR_003267 A6NGU5 "8104871|18357469" MGI:95706 PGOHUM00000297454 HGNC:4252 HGNC:33207 GGT4P gamma-glutamyltransferase 4 pseudogene pseudogene pseudogene Approved 13q11 13q11 Gamma-glutamyltransferases 564 2008-03-10 2015-08-13 643171 ENSG00000280208 OTTHUMG00000189382 XR_038677 18357469 PGOHUM00000291846 HGNC:33207 -HGNC:4260 GGT5 gamma-glutamyltransferase 5 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 GGT-REL GGTLA1 gamma-glutamyltransferase-like activity 1 Gamma-glutamyltransferases 564 1992-08-24 2008-03-10 2008-03-10 2023-01-20 2687 ENSG00000099998 OTTHUMG00000150796 uc002zzo.4 M64099 NM_004121 "CCDS42990|CCDS13825|CCDS42989" P36269 "1676842|8095916|18357469" MGI:1346063 RGD:2684 137168 T03.002 2.3.2.2 HGNC:4260 "ENST00000327365.10|NM_004121.5" -HGNC:26891 GGT6 gamma-glutamyltransferase 6 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 FLJ90165 gamma-glutamyltransferase 6 homolog (rat) Gamma-glutamyltransferases 564 2005-11-14 2008-03-10 2023-01-20 124975 ENSG00000167741 OTTHUMG00000177827 uc002fyd.6 AK074646 NM_153338 "CCDS45582|CCDS73942|CCDS11047" Q6P531 18357469 MGI:1918772 RGD:1303335 612341 HGNC:26891 "ENST00000381550.8|NM_001288702.2" +HGNC:4260 GGT5 gamma-glutamyltransferase 5 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 GGT-REL GGTLA1 gamma-glutamyltransferase-like activity 1 Gamma-glutamyltransferases 564 1992-08-24 2008-03-10 2008-03-10 2023-01-20 2687 ENSG00000099998 OTTHUMG00000150796 uc002zzo.4 M64099 NM_004121 "CCDS42989|CCDS13825|CCDS42990" P36269 "1676842|8095916|18357469" MGI:1346063 RGD:2684 137168 T03.002 2.3.2.2 HGNC:4260 "ENST00000327365.10|NM_004121.5" +HGNC:26891 GGT6 gamma-glutamyltransferase 6 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 FLJ90165 gamma-glutamyltransferase 6 homolog (rat) Gamma-glutamyltransferases 564 2005-11-14 2008-03-10 2023-01-20 124975 ENSG00000167741 OTTHUMG00000177827 uc002fyd.6 AK074646 NM_153338 "CCDS11047|CCDS45582|CCDS73942" Q6P531 18357469 MGI:1918772 RGD:1303335 612341 HGNC:26891 "ENST00000381550.8|NM_001288702.2" HGNC:4259 GGT7 gamma-glutamyltransferase 7 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "D20S101|dJ18C9.2" "GGTL5|GGTL3" gamma-glutamyltransferase-like 3 Gamma-glutamyltransferases 564 1992-08-04 2008-03-10 2008-03-10 2023-01-20 2686 ENSG00000131067 OTTHUMG00000032314 uc002xay.4 AL049709 NM_178026 CCDS13242 Q9UJ14 "8104871|18357469" MGI:1913385 RGD:619870 612342 T03.017 2.3.2.2 HGNC:4259 "ENST00000336431.10|NM_178026.3" HGNC:33438 GGT8P gamma-glutamyltransferase 8 pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 FLJ31276 GGT1P1 gamma-glutamyltransferase 1 pseudogene 1 Gamma-glutamyltransferases 564 2008-01-23 2008-03-10 2008-03-10 2016-10-05 645367 ENSG00000236969 OTTHUMG00000155086 AK055838 NR_003503 18357469 HGNC:33438 HGNC:4253 GGTA1 glycoprotein alpha-galactosyltransferase 1 (inactive) protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "GLYT2|GGTA|GGTA1P" "glycoprotein, alpha-galactosyltransferase 1|glycoprotein alpha-galactosyltransferase 1, pseudogene" 1990-08-03 2020-05-21 2020-05-21 2023-01-20 2681 ENSG00000204136 OTTHUMG00000020592 NM_001382585 CCDS94476 Q4G0N0 "1559713|2108966" MGI:95704 RGD:629476 104175 HGNC:4253 "ENST00000481799.6|NM_001382585.1" @@ -10202,21 +10203,21 @@ HGNC:18596 GGTLC2 gamma-glutamyltransferase light chain 2 protein-coding gene ge HGNC:33426 GGTLC3 gamma-glutamyltransferase light chain family member 3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 gamma-glutamyltransferase light chain 3 Gamma-glutamyltransferases 564 2008-03-10 2017-11-23 2023-01-20 728226 ENSG00000274252 OTTHUMG00000188352 uc062biv.1 L10397 NM_001355479 CCDS86996 B5MD39 18357469 MGI:95706 612340 HGNC:33426 "ENST00000619998.1|NM_001355479.1" HGNC:33428 GGTLC4P gamma-glutamyltransferase light chain 4 pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 Gamma-glutamyltransferases 564 2008-03-10 2015-08-13 729838 ENSG00000230712 OTTHUMG00000150766 L10395 XR_015549 18357469 PGOHUM00000297502 HGNC:33428 HGNC:33427 GGTLC5P gamma-glutamyltransferase light chain 5 pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 Gamma-glutamyltransferases 564 2008-03-10 2015-08-13 653590 ENSG00000276160 OTTHUMG00000188346 L10399 XR_016962 18357469 PGOHUM00000297626 HGNC:33427 -HGNC:4261 GH1 growth hormone 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "GH-N|GHN|GH|hGH-N" "pituitary growth hormone|somatotropin" Growth hormone family 1175 2001-06-22 2023-03-15 2688 ENSG00000259384 OTTHUMG00000172293 uc002jdj.4 M13438 NM_000515 "CCDS11653|CCDS11654|CCDS45760" P01241 6306568 MGI:95707 RGD:2686 139250 122092 ligandId:4943 HGNC:4261 "ENST00000323322.10|NM_000515.5" HGNC:4261 -HGNC:4262 GH2 growth hormone 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "GH-V|GHV|GHL|hGH-V" "placental-specific growth hormone|placenta-specific growth hormone" Growth hormone family 1175 2001-06-22 2023-01-20 2689 ENSG00000136487 OTTHUMG00000172284 uc002jco.3 J03756 NM_002059 "CCDS11648|CCDS45757|CCDS45758|CCDS11647" P01242 6306568 MGI:95707 139240 ligandId:4944 HGNC:4262 "ENST00000423893.7|NM_002059.5" -HGNC:24438 GHDC GH3 domain containing protein-coding gene gene with protein product Approved 17q21.2 17q21.2 LGP1 2006-08-02 2023-01-20 84514 ENSG00000167925 OTTHUMG00000180108 uc060fhk.1 "AF316997|BC011056" NM_032484 "CCDS45682|CCDS11422" Q8N2G8 "11161808|11735219" MGI:1931556 RGD:1308881 608587 HGNC:24438 "ENST00000587427.6|NM_032484.5" +HGNC:4261 GH1 growth hormone 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "GH-N|GHN|GH|hGH-N" "pituitary growth hormone|somatotropin" Growth hormone family 1175 2001-06-22 2023-03-15 2688 ENSG00000259384 OTTHUMG00000172293 uc002jdj.4 M13438 NM_000515 "CCDS11654|CCDS11653|CCDS45760" P01241 6306568 MGI:95707 RGD:2686 139250 122092 ligandId:4943 HGNC:4261 "ENST00000323322.10|NM_000515.5" HGNC:4261 +HGNC:4262 GH2 growth hormone 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "GH-V|GHV|GHL|hGH-V" "placental-specific growth hormone|placenta-specific growth hormone" Growth hormone family 1175 2001-06-22 2023-01-20 2689 ENSG00000136487 OTTHUMG00000172284 uc002jco.3 J03756 NM_002059 "CCDS45757|CCDS45758|CCDS11648|CCDS11647" P01242 6306568 MGI:95707 139240 ligandId:4944 HGNC:4262 "ENST00000423893.7|NM_002059.5" +HGNC:24438 GHDC GH3 domain containing protein-coding gene gene with protein product Approved 17q21.2 17q21.2 LGP1 2006-08-02 2023-01-20 84514 ENSG00000167925 OTTHUMG00000180108 uc060fhk.1 "AF316997|BC011056" NM_032484 "CCDS11422|CCDS45682" Q8N2G8 "11161808|11735219" MGI:1931556 RGD:1308881 608587 HGNC:24438 "ENST00000587427.6|NM_032484.5" HGNC:49425 GHET1 gastric carcinoma proliferation enhancing transcript 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 lncRNA-GHET1 gastric carcinoma high expressed transcript 1 Long non-coding RNAs with non-systematic symbols 1992 2014-01-07 2016-11-24 102723099 ENSG00000281189 OTTHUMG00000189524 "AK123072|BC037977" NR_130107 24397586 619888 ghet1 HGNC:49425 HGNC:17281 GHITM growth hormone inducible transmembrane protein protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "HSPC282|PTD010|DERP2|My021|TMBIM5|MICS1" transmembrane BAX inhibitor motif containing 5 Transmembrane BAX inhibitor motif containing 1215 2001-12-10 2023-03-27 27069 ENSG00000165678 OTTHUMG00000018637 uc001kcs.2 AB009685 NM_014394 CCDS41542 Q9H3K2 "8619474|9110174|36321428" MGI:1913342 RGD:1359301 619205 HGNC:17281 "ENST00000372134.6|NM_014394.3" -HGNC:4263 GHR growth hormone receptor protein-coding gene gene with protein product Approved 5p13.1-p12 05p13.1-p12 GHBP growth hormone binding protein Fibronectin type III domain containing 555 1989-06-30 2023-01-20 2690 ENSG00000112964 OTTHUMG00000094791 uc003jmt.4 NM_000163 "CCDS56364|CCDS3940|CCDS75240|CCDS75239" P10912 MGI:95708 RGD:2687 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GHR 600946 122095 objectId:1720 HGNC:4263 "ENST00000230882.9|NM_000163.5" HGNC:4263 -HGNC:4265 GHRH growth hormone releasing hormone protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "sermorelin|somatocrinin|somatoliberin" GHRF Neuropeptides 1902 1986-01-01 2023-01-20 2691 ENSG00000118702 OTTHUMG00000032413 uc002xgs.5 NM_001184731 "CCDS54460|CCDS13292" P01286 3918305 MGI:95709 RGD:61883 139190 ligandId:2270 HGNC:4265 "ENST00000373614.7|NM_021081.6" +HGNC:4263 GHR growth hormone receptor protein-coding gene gene with protein product Approved 5p13.1-p12 05p13.1-p12 GHBP growth hormone binding protein Fibronectin type III domain containing 555 1989-06-30 2023-01-20 2690 ENSG00000112964 OTTHUMG00000094791 uc003jmt.4 NM_000163 "CCDS75239|CCDS3940|CCDS56364|CCDS75240" P10912 MGI:95708 RGD:2687 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GHR 600946 122095 objectId:1720 HGNC:4263 "ENST00000230882.9|NM_000163.5" HGNC:4263 +HGNC:4265 GHRH growth hormone releasing hormone protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "sermorelin|somatocrinin|somatoliberin" GHRF Neuropeptides 1902 1986-01-01 2023-01-20 2691 ENSG00000118702 OTTHUMG00000032413 uc002xgs.5 NM_001184731 "CCDS13292|CCDS54460" P01286 3918305 MGI:95709 RGD:61883 139190 ligandId:2270 HGNC:4265 "ENST00000373614.7|NM_021081.6" HGNC:4266 GHRHR growth hormone releasing hormone receptor protein-coding gene gene with protein product Approved 7p14.3 07p14.3 Glucagon receptor family 269 1993-06-22 2023-03-15 2692 ENSG00000106128 OTTHUMG00000152801 uc003tbx.4 NM_000823 CCDS5432 Q02643 "7680413|7514564" MGI:95710 RGD:2688 139191 122097 objectId:247 HGNC:4266 "ENST00000326139.7|NM_000823.4" HGNC:4266 -HGNC:18129 GHRL ghrelin and obestatin prepropeptide protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "MTLRP|ghrelin|obestatin" prepro-appetite regulatory hormone "ghrelin, growth hormone secretagogue receptor ligand|ghrelin/obestatin prepropeptide" Neuropeptides 1902 2006-01-05 2016-08-10 2023-01-20 51738 ENSG00000157017 OTTHUMG00000155360 uc021wsz.2 AF296558 NM_016362 "CCDS46748|CCDS46749|CCDS33700|CCDS46750|CCDS46747" Q9UBU3 "10930375|10604470|16284174" MGI:1930008 RGD:632283 605353 ligandId:1098 HGNC:18129 "ENST00000335542.13|NM_016362.5" +HGNC:18129 GHRL ghrelin and obestatin prepropeptide protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "MTLRP|ghrelin|obestatin" prepro-appetite regulatory hormone "ghrelin, growth hormone secretagogue receptor ligand|ghrelin/obestatin prepropeptide" Neuropeptides 1902 2006-01-05 2016-08-10 2023-01-20 51738 ENSG00000157017 OTTHUMG00000155360 uc021wsz.2 AF296558 NM_016362 "CCDS46748|CCDS33700|CCDS46747|CCDS46749|CCDS46750" Q9UBU3 "10930375|10604470|16284174" MGI:1930008 RGD:632283 605353 ligandId:1098 HGNC:18129 "ENST00000335542.13|NM_016362.5" HGNC:33885 GHRLOS ghrelin opposite strand/antisense RNA non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 "NCRNA00068|GHRL-AS1" "non-protein coding RNA 68|GHRL antisense RNA 1 (non-protein coding)" "ghrelin opposite strand RNA (non-protein coding)|ghrelin opposite strand/antisense RNA (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2007-11-20 2011-11-14 2012-08-15 2014-10-03 100126793 ENSG00000240288 OTTHUMG00000155359 uc062grr.1 EF549568 NR_004431 "17727735|18954468" 618445 GHRLOS HGNC:33885 HGNC:4267 GHSR growth hormone secretagogue receptor protein-coding gene gene with protein product Approved 3q26.31 03q26.31 Peptide receptors 220 1997-09-12 2023-01-20 2693 ENSG00000121853 OTTHUMG00000156946 uc003fib.3 AY429112 NM_004122 "CCDS3218|CCDS46959" Q92847 8688086 MGI:2441906 RGD:621397 601898 201252 objectId:246 HGNC:4267 "ENST00000241256.3|NM_198407.2" HGNC:4267 HGNC:28453 GID4 GID complex subunit 4 homolog protein-coding gene gene with protein product Approved 17p11.2 17p11.2 VID24 vacuolar import and degradation 24 C17orf39 "chromosome 17 open reading frame 39|GID complex subunit 4, VID24 homolog (S. cerevisiae)|GID complex subunit 4" 2004-04-20 2012-07-20 2015-07-22 2023-01-20 79018 ENSG00000141034 OTTHUMG00000059398 uc002gsg.2 AK127580 NM_024052 "CCDS11190|CCDS92267" Q8IVV7 11997338 MGI:1914021 RGD:1588894 617699 HGNC:28453 "ENST00000268719.9|NM_024052.5" HGNC:15857 GID8 GID complex subunit 8 homolog protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ20602|bA305P22.1|TWA1" two hybrid associated protein No. 1 with RanBPM C20orf11 "chromosome 20 open reading frame 11|GID complex subunit 8 homolog (S. cerevisiae)|GID complex subunit 8" CTLH complex 1561 2001-06-21 2012-07-20 2016-04-05 2023-01-20 54994 ENSG00000101193 OTTHUMG00000032949 uc002ydy.4 AK000609 NM_017896 CCDS13510 Q9NWU2 12559565 MGI:1923675 RGD:735024 611625 HGNC:15857 "ENST00000266069.5|NM_017896.3" HGNC:9126 GIGYF1 GRB10 interacting GYF protein 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 GYF1 GYF domain containing 1 PERQ1 PERQ amino acid rich, with GYF domain 1 Armadillo like helical domain containing 1492 1998-06-03 2008-02-11 2008-02-11 2023-01-20 64599 ENSG00000146830 OTTHUMG00000157036 uc003uwg.2 AF053356 NM_022574 CCDS34708 O75420 "9799793|12771153" MGI:1888677 RGD:1309933 612064 HGNC:9126 "ENST00000678049.1|NM_001375765.1" -HGNC:11960 GIGYF2 GRB10 interacting GYF protein 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "KIAA0642|GYF2" GYF domain containing 2 "PERQ2|PERQ3|TNRC15|PARK11" "PERQ amino acid rich, with GYF domain 2|PERQ amino acid rich, with GYF domain 3|trinucleotide repeat containing 15|Parkinson disease (autosomal recessive, early onset) 11" 2000-01-27 2008-02-11 2008-02-11 2023-01-20 26058 ENSG00000204120 OTTHUMG00000153237 uc002vtk.6 U80751 NM_001103146 "CCDS46543|CCDS33401|CCDS46542" Q6Y7W6 "9225980|9734811|12771153|18358451|19279319" MGI:2138584 RGD:2318130 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PARK11 612003 159059 HGNC:11960 "ENST00000373563.9|NM_001103146.3" HGNC:11960 +HGNC:11960 GIGYF2 GRB10 interacting GYF protein 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "KIAA0642|GYF2" GYF domain containing 2 "PERQ2|PERQ3|TNRC15|PARK11" "PERQ amino acid rich, with GYF domain 2|PERQ amino acid rich, with GYF domain 3|trinucleotide repeat containing 15|Parkinson disease (autosomal recessive, early onset) 11" 2000-01-27 2008-02-11 2008-02-11 2023-01-20 26058 ENSG00000204120 OTTHUMG00000153237 uc002vtk.6 U80751 NM_001103146 "CCDS33401|CCDS46542|CCDS46543" Q6Y7W6 "9225980|9734811|12771153|18358451|19279319" MGI:2138584 RGD:2318130 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PARK11 612003 159059 HGNC:11960 "ENST00000373563.9|NM_001103146.3" HGNC:11960 HGNC:52649 GIHCG GIHCG inhibitor of miR-200b/200a/429 expression non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 lncRNA-GIHCG lncRNA gradually increased during hepatocarcinogenesis GIHCG, inhibitor of miR-200b/200a/429 expression Long non-coding RNAs with non-systematic symbols 1992 2018-07-25 2019-01-25 2019-01-25 100506844 ENSG00000257698 OTTHUMG00000170492 NR_038269 "27380494|29364470|29565468|29953645" HGNC:52649 HGNC:23237 GIMAP1 GTPase, IMAP family member 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HIMAP1|IMAP38|IMAP1|IAN2" immune-associated nucleotide-binding protein 2 GTPases, IMAP 580 2004-10-29 2023-01-20 170575 ENSG00000213203 OTTHUMG00000157489 uc003whq.4 AJ306287 NM_130759 CCDS5906 Q8WWP7 "15474311|18701445" MGI:109368 RGD:1306777 608084 HGNC:23237 "ENST00000307194.6|NM_130759.4" HGNC:51257 GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough other readthrough Approved 7q36.1 07q36.1 2015-01-27 2023-03-15 100527949 ENSG00000281887 OTTHUMG00000189885 NM_001199577 "MGI:1932723|MGI:2442232" HGNC:51257 @@ -10224,24 +10225,24 @@ HGNC:21789 GIMAP2 GTPase, IMAP family member 2 protein-coding gene gene with pro HGNC:30975 GIMAP3P GTPase, IMAP family member 3 pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 "GIMAP3|IAN4P" immune-associated nucleotide-binding protein 4 pseudogene GTPases, IMAP 580 2004-10-29 2015-09-10 474345 ENSG00000177590 OTTHUMG00000158113 AJ580951 NG_026525 15474311 PGOHUM00000302489 HGNC:30975 HGNC:21872 GIMAP4 GTPase, IMAP family member 4 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HIMAP4|FLJ11110|IMAP4|IAN1" immune-associated nucleotide-binding protein 1 GTPases, IMAP 580 2004-10-29 2023-01-20 55303 ENSG00000133574 OTTHUMG00000157475 uc003whl.4 AK001972 NM_018326 "CCDS87564|CCDS5904" Q9NUV9 "15474311|18701445" MGI:1349656 RGD:628765 608087 HGNC:21872 "ENST00000255945.4|NM_018326.3" HGNC:18005 GIMAP5 GTPase, IMAP family member 5 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HIMAP3|IAN5" immune-associated nucleotide-binding protein 5 IAN4L1 immune associated nucleotide 4 like 1 (mouse) GTPases, IMAP 580 2002-01-16 2004-10-30 2004-10-29 2023-01-20 55340 ENSG00000196329 OTTHUMG00000157542 uc064jdz.2 AK002158 NM_018384 CCDS5907 Q96F15 MGI:2442232 RGD:628871 608086 HGNC:18005 "ENST00000358647.5|NM_018384.5" -HGNC:21918 GIMAP6 GTPase, IMAP family member 6 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "FLJ22690|IAN6" immune-associated nucleotide-binding protein 6 GTPases, IMAP 580 2004-10-29 2023-01-20 474344 ENSG00000133561 OTTHUMG00000159137 uc003whn.4 AK026343 NM_024711 "CCDS34778|CCDS75676|CCDS59087" Q6P9H5 15474311 MGI:1918876 RGD:1305041 616960 HGNC:21918 "ENST00000328902.9|NM_024711.6" +HGNC:21918 GIMAP6 GTPase, IMAP family member 6 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "FLJ22690|IAN6" immune-associated nucleotide-binding protein 6 GTPases, IMAP 580 2004-10-29 2023-01-20 474344 ENSG00000133561 OTTHUMG00000159137 uc003whn.4 AK026343 NM_024711 "CCDS75676|CCDS59087|CCDS34778" Q6P9H5 15474311 MGI:1918876 RGD:1305041 616960 HGNC:21918 "ENST00000328902.9|NM_024711.6" HGNC:22404 GIMAP7 GTPase, IMAP family member 7 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "MGC27027|IAN7" immune-associated nucleotide-binding protein 7 GTPases, IMAP 580 2004-10-29 2023-01-20 168537 ENSG00000179144 OTTHUMG00000157626 uc003whk.4 BC027613 NM_153236 CCDS5903 Q8NHV1 15474311 MGI:1349657 RGD:1565750 616961 HGNC:22404 "ENST00000313543.5|NM_153236.4" HGNC:21792 GIMAP8 GTPase, IMAP family member 8 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "DKFZp667I133|hIAN6|IAN9" immune-associated nucleotide-binding protein 9 GTPases, IMAP 580 2004-10-29 2023-01-20 155038 ENSG00000171115 OTTHUMG00000158327 uc003whj.4 AL834361 NM_175571 CCDS34777 Q8ND71 15474311 MGI:2685303 RGD:1564570 616962 HGNC:21792 "ENST00000307271.4|NM_175571.4" HGNC:44141 GIMD1 GIMAP family P-loop NTPase domain containing 1 protein-coding gene gene with protein product Approved 4q24 04q24 2012-07-02 2012-07-02 2023-01-20 100507096 ENSG00000250298 OTTHUMG00000161071 uc062yvh.1 DN831977 NM_001195138 CCDS82942 P0DJR0 MGI:3647547 RGD:1563706 HGNC:44141 "ENST00000638719.4|NM_001195138.2" HGNC:25959 GIN1 gypsy retrotransposon integrase 1 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "FLJ20125|GIN-1|TGIN1" "gypsy integrase 1|Ty3/Gypsy integrase 1" ZH2C2 zinc finger, H2C2 domain containing 2006-12-21 2007-06-13 2007-06-13 2023-01-20 54826 ENSG00000145723 OTTHUMG00000162811 uc003koa.2 BC015325 NM_017676 CCDS43349 Q9NXP7 11470852 MGI:2182036 RGD:1307449 HGNC:25959 "ENST00000399004.7|NM_017676.2" HGNC:21074 GINM1 glycosylated integral membrane protein 1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 dJ12G14.2 C6orf72 "chromosome 6 open reading frame 72|glycoprotein integral membrane 1" 2003-11-26 2012-07-20 2022-03-30 2023-01-20 116254 ENSG00000055211 OTTHUMG00000015789 uc003qmq.2 BC014320 NM_138785 CCDS5216 Q9NU53 MGI:2384905 RGD:1309759 HGNC:21074 "ENST00000367419.10|NM_138785.5" -HGNC:28980 GINS1 GINS complex subunit 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "KIAA0186|PSF1" GINS complex subunit 1 (Psf1 homolog) GINS complex 931 2006-05-04 2016-03-21 2023-01-20 9837 ENSG00000101003 OTTHUMG00000032124 uc002wuv.2 BC012542 NM_021067 "CCDS33451|CCDS93023|CCDS93022" Q14691 "8724849|8786132" MGI:1916520 RGD:1562246 610608 470380 HGNC:28980 "ENST00000262460.5|NM_021067.5" HGNC:28980 +HGNC:28980 GINS1 GINS complex subunit 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "KIAA0186|PSF1" GINS complex subunit 1 (Psf1 homolog) GINS complex 931 2006-05-04 2016-03-21 2023-01-20 9837 ENSG00000101003 OTTHUMG00000032124 uc002wuv.2 BC012542 NM_021067 "CCDS33451|CCDS93022|CCDS93023" Q14691 "8724849|8786132" MGI:1916520 RGD:1562246 610608 470380 HGNC:28980 "ENST00000262460.5|NM_021067.5" HGNC:28980 HGNC:24575 GINS2 GINS complex subunit 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "PSF2|Pfs2" GINS complex subunit 2 (Psf2 homolog) GINS complex 931 2006-05-04 2016-03-21 2023-01-20 51659 ENSG00000131153 OTTHUMG00000137646 uc002fja.4 BC003186 NM_016095 CCDS10953 Q9Y248 "11042152|10810093" MGI:1921019 RGD:1311055 610609 HGNC:24575 "ENST00000253462.8|NM_016095.3" -HGNC:25851 GINS3 GINS complex subunit 3 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ13912|PSF3" GINS complex subunit 3 (Psf3 homolog) GINS complex 931 2006-05-04 2016-03-21 2023-01-20 64785 ENSG00000181938 OTTHUMG00000133486 uc002enh.4 BC005879 NM_022770 "CCDS45498|CCDS10796|CCDS45499" Q9BRX5 17417653 MGI:1926083 RGD:1308153 610610 HGNC:25851 "ENST00000318129.6|NM_022770.4" +HGNC:25851 GINS3 GINS complex subunit 3 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ13912|PSF3" GINS complex subunit 3 (Psf3 homolog) GINS complex 931 2006-05-04 2016-03-21 2023-01-20 64785 ENSG00000181938 OTTHUMG00000133486 uc002enh.4 BC005879 NM_022770 "CCDS45498|CCDS45499|CCDS10796" Q9BRX5 17417653 MGI:1926083 RGD:1308153 610610 HGNC:25851 "ENST00000318129.6|NM_022770.4" HGNC:28226 GINS4 GINS complex subunit 4 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "MGC14799|SLD5" GINS complex subunit 4 (Sld5 homolog) GINS complex 931 2006-05-04 2016-03-21 2023-01-20 84296 ENSG00000147536 OTTHUMG00000164079 uc003xnx.3 BC005995 NM_032336 CCDS6116 Q9BRT9 20070258 MGI:1923847 RGD:1307397 610611 HGNC:28226 "ENST00000276533.4|NM_032336.3" HGNC:4270 GIP gastric inhibitory polypeptide protein-coding gene gene with protein product Approved 17q21.32 17q21.32 glucose-dependent insulinotropic polypeptide Neuropeptides 1902 1988-07-25 2023-01-20 2695 ENSG00000159224 OTTHUMG00000161171 uc002iol.2 NM_004123 CCDS11542 P09681 2739653 MGI:107504 RGD:2709 137240 ligandId:3542 HGNC:4270 "ENST00000357424.2|NM_004123.3" HGNC:1226 GIPC1 GIPC PDZ domain containing family member 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "TIP-2|Hs.6454|GIPC|SEMCAP|GLUT1CBP|SYNECTIN|NIP" "C19orf3|RGS19IP1" "chromosome 19 open reading frame 3|regulator of G-protein signalling 19 interacting protein 1|GIPC PDZ domain containing family, member 1" PDZ domain containing 1220 1998-12-01 2005-06-28 2015-11-18 2023-01-20 10755 ENSG00000123159 OTTHUMG00000182248 uc002myt.5 AF089816 NM_005716 "CCDS12311|CCDS12310" O14908 "9770488|9482110" MGI:1926252 RGD:68338 605072 HGNC:1226 "ENST00000393033.9|NM_005716.4" HGNC:1226 HGNC:18177 GIPC2 GIPC PDZ domain containing family member 2 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "FLJ20075|SEMCAP-2" semaphorin cytoplasmic domain associated protein 2 GIPC PDZ domain containing family, member 2 PDZ domain containing 1220 2005-06-28 2015-11-18 2023-01-20 54810 ENSG00000137960 OTTHUMG00000041145 uc001dik.4 AB073737 NM_017655 CCDS685 Q8TF65 11836570 MGI:1889209 RGD:1560751 619089 HGNC:18177 "ENST00000370759.4|NM_017655.6" HGNC:18183 GIPC3 GIPC PDZ domain containing family member 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 DFNB95 "C19orf64|DFNB72|DFNB15" "chromosome 19 open reading frame 64|deafness, autosomal recessive 72|deafness, autosomal recessive 15|GIPC PDZ domain containing family, member 3" PDZ domain containing 1220 2005-06-28 2015-11-18 2023-01-20 126326 ENSG00000179855 OTTHUMG00000167425 uc002lyd.5 AB073738 NM_133261 "CCDS32871|CCDS92487" Q8TF64 "11836571|21326233" MGI:2387006 RGD:1563255 608792 270208 HGNC:18183 "ENST00000644452.3|NM_133261.3" HGNC:18183 -HGNC:4271 GIPR gastric inhibitory polypeptide receptor protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "Glucagon receptor family|MicroRNA protein coding host genes" "269|1691" 1994-04-28 2023-01-20 2696 ENSG00000010310 OTTHUMG00000182129 uc002pcu.2 NM_000164 "CCDS82367|CCDS12671" P48546 7490109 MGI:1352753 RGD:2689 137241 objectId:248 HGNC:4271 "ENST00000590918.6|NM_000164.4" +HGNC:4271 GIPR gastric inhibitory polypeptide receptor protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "Glucagon receptor family|MicroRNA protein coding host genes" "269|1691" 1994-04-28 2023-01-20 2696 ENSG00000010310 OTTHUMG00000182129 uc002pcu.2 NM_000164 "CCDS12671|CCDS82367" P48546 7490109 MGI:1352753 RGD:2689 137241 objectId:248 HGNC:4271 "ENST00000590918.6|NM_000164.4" HGNC:55702 GIRGL glutamine insufficiency regulator of glutaminase lncRNA non-coding RNA RNA, long non-coding Approved 7p21.1 07p21.1 MACC1-DT MACC1 divergent transcript Long non-coding RNAs with non-systematic symbols 1992 2021-07-05 2022-12-07 2022-12-07 2022-12-07 100506098 ENSG00000233834 NR_134567 33762340 -HGNC:4272 GIT1 GIT ArfGAP 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "G protein-coupled receptor kinase interactor 1|G protein-coupled receptor kinase interacting ArfGAP 1" "ArfGAPs|Ankyrin repeat domain containing" "395|403" 2000-07-31 2016-03-14 2023-01-20 28964 ENSG00000108262 OTTHUMG00000132730 uc002hef.3 AF124490 NM_014030 "CCDS42290|CCDS11250" Q9Y2X7 "9826657|10896954" MGI:1927140 RGD:69331 608434 HGNC:4272 "ENST00000225394.8|NM_014030.4" -HGNC:4273 GIT2 GIT ArfGAP 2 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "KIAA0148|PKL" Paxillin kinase linker "G protein-coupled receptor kinase interactor 2|G protein-coupled receptor kinase interacting ArfGAP 2" "ArfGAPs|Ankyrin repeat domain containing" "395|403" 2000-07-31 2016-03-14 2023-01-20 9815 ENSG00000139436 OTTHUMG00000169313 uc001tps.3 AF124491 NM_057169 "CCDS44968|CCDS55884|CCDS81736|CCDS81737|CCDS9138|CCDS9139|CCDS44969" Q14161 "9826657|10896954" MGI:1347053 RGD:1359708 608564 HGNC:4273 "ENST00000355312.8|NM_057169.5" +HGNC:4272 GIT1 GIT ArfGAP 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "G protein-coupled receptor kinase interactor 1|G protein-coupled receptor kinase interacting ArfGAP 1" "ArfGAPs|Ankyrin repeat domain containing" "395|403" 2000-07-31 2016-03-14 2023-01-20 28964 ENSG00000108262 OTTHUMG00000132730 uc002hef.3 AF124490 NM_014030 "CCDS11250|CCDS42290" Q9Y2X7 "9826657|10896954" MGI:1927140 RGD:69331 608434 HGNC:4272 "ENST00000225394.8|NM_014030.4" +HGNC:4273 GIT2 GIT ArfGAP 2 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "KIAA0148|PKL" Paxillin kinase linker "G protein-coupled receptor kinase interactor 2|G protein-coupled receptor kinase interacting ArfGAP 2" "ArfGAPs|Ankyrin repeat domain containing" "395|403" 2000-07-31 2016-03-14 2023-01-20 9815 ENSG00000139436 OTTHUMG00000169313 uc001tps.3 AF124491 NM_057169 "CCDS9138|CCDS9139|CCDS81736|CCDS81737|CCDS55884|CCDS44968|CCDS44969" Q14161 "9826657|10896954" MGI:1347053 RGD:1359708 608564 HGNC:4273 "ENST00000355312.8|NM_057169.5" HGNC:4274 GJA1 gap junction protein alpha 1 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "CX43|ODD|ODOD|SDTY3" "oculodentodigital dysplasia (syndactyly type III)|connexin 43" "ODDD|GJAL" "gap junction protein, alpha-like|gap junction protein, alpha 1, 43kDa (connexin 43)|gap junction protein, alpha 1, 43kDa" Gap junction proteins 314 1990-08-03 2015-11-09 2023-01-20 2697 ENSG00000152661 OTTHUMG00000015479 uc003pyr.4 BC026329 NM_000165 CCDS5123 P17302 "10331943|1646158" MGI:95713 RGD:2690 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|LRG_1289|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1289.xml" 121014 122102 objectId:728 HGNC:4274 "ENST00000282561.4|NM_000165.5" HGNC:4274 HGNC:4275 GJA1P1 gap junction protein alpha 1 pseudogene 1 pseudogene pseudogene Approved 5q21.3 05q21.3 "gap junction protein, alpha 1, 43kD (connexin 43) pseudogene 1|gap junction protein, alpha 1, 43kDa (connexin 43) pseudogene 1|gap junction protein, alpha 1, 43kDa pseudogene 1" 1991-01-30 2015-11-09 2015-11-09 2698 ENSG00000176857 OTTHUMG00000162850 M65189 NG_003029 "1646158|11741837" PGOHUM00000251326 HGNC:4275 HGNC:4277 GJA3 gap junction protein alpha 3 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 CX46 connexin 46 CZP3 "gap junction protein, alpha 3, 46kD (connexin 46)|gap junction protein, alpha 3, 46kDa (connexin 46)|gap junction protein, alpha 3, 46kDa" Gap junction proteins 314 1990-02-12 2015-11-09 2023-01-20 2700 ENSG00000121743 OTTHUMG00000016510 uc001umx.2 AF075290 NM_021954 CCDS9289 Q9Y6H8 "10205266|7342922" MGI:95714 RGD:621820 121015 122114 objectId:730 HGNC:4277 "ENST00000241125.4|NM_021954.4" HGNC:4277 @@ -10267,7 +10268,7 @@ HGNC:19147 GJD3 gap junction protein delta 3 protein-coding gene gene with prote HGNC:56092 GJD3-AS1 GJD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 Antisense RNAs 1987 2021-12-20 2023-02-22 112529913 ENSG00000266208 NG_056903 HGNC:23296 GJD4 gap junction protein delta 4 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "CX40.1|FLJ90023" connexin 40.1 gap junction protein, delta 4, 40.1kDa Gap junction proteins 314 2007-11-06 2015-11-09 2023-01-20 219770 ENSG00000177291 OTTHUMG00000017957 uc001iyy.1 AJ414564 NM_153368 CCDS7191 Q96KN9 12881038 MGI:2444990 RGD:628621 611922 objectId:727 HGNC:23296 "ENST00000321660.2|NM_153368.3" HGNC:33251 GJE1 gap junction protein epsilon 1 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 CX23 gap junction protein, epsilon 1, 23kDa Gap junction proteins 314 2007-11-06 2015-11-09 2023-01-20 100126572 ENSG00000203733 OTTHUMG00000015706 uc063rxt.1 NM_001358410 CCDS87449 A6NN92 18849090 MGI:1923993 RGD:1598009 objectId:714 HGNC:33251 "ENST00000450456.3|NM_001358410.2" -HGNC:4289 GK glycerol kinase protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 "GK1|GKD" Glycerol kinases 568 1986-01-01 2023-01-20 2710 ENSG00000198814 OTTHUMG00000021328 uc010ngj.4 X78711 NM_000167 "CCDS75963|CCDS48090|CCDS35224|CCDS14225" P32189 7987308 MGI:106594 RGD:70893 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=GK|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GK|LRG_848|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_848.xml" 300474 122149 2.7.1.30 HGNC:4289 "ENST00000427190.6|NM_001205019.2" HGNC:4289 +HGNC:4289 GK glycerol kinase protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 "GK1|GKD" Glycerol kinases 568 1986-01-01 2023-01-20 2710 ENSG00000198814 OTTHUMG00000021328 uc010ngj.4 X78711 NM_000167 "CCDS48090|CCDS75963|CCDS35224|CCDS14225" P32189 7987308 MGI:106594 RGD:70893 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=GK|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GK|LRG_848|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_848.xml" 300474 122149 2.7.1.30 HGNC:4289 "ENST00000427190.6|NM_001205019.2" HGNC:4289 HGNC:40255 GK-AS1 GK antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp21.2 Xp21.2 GK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100873902 ENSG00000243055 OTTHUMG00000159434 uc064yll.1 NR_046603 GK-AS1 HGNC:41339 GK-IT1 GK intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xp21.2 Xp21.2 GK intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-08-10 2015-02-25 2015-02-25 106480740 ENSG00000229331 OTTHUMG00000021324 uc064ylh.1 GK-IT1 HGNC:4291 GK2 glycerol kinase 2 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 GKTA GKP2 glycerol kinase pseudogene 2 Glycerol kinases 568 1994-12-14 2002-10-04 2002-10-03 2023-01-20 2712 ENSG00000196475 OTTHUMG00000130199 uc003hlu.4 BC029820 NM_033214 CCDS3585 Q14410 7987308 MGI:1329027 RGD:1303263 600148 HGNC:4291 "ENST00000358842.5|NM_033214.3" HGNC:4291 @@ -10280,8 +10281,8 @@ HGNC:23217 GKN1 gastrokine 1 protein-coding gene gene with protein product Appro HGNC:24588 GKN2 gastrokine 2 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "TFIZ1|PRO813|VLTI465|blottin|GDDR|BRICD1B" "down regulated in gastric cancer GDDR|BRICHOS domain containing 1B" BRICHOS domain containing 457 2007-01-29 2023-01-20 200504 ENSG00000183607 OTTHUMG00000152655 uc002sfa.3 AF494509 NM_182536 CCDS33215 Q86XP6 "15774165|15924415|16888721" MGI:1913534 RGD:1311934 618589 HGNC:24588 "ENST00000328895.9|NM_182536.3" HGNC:37701 GKN3P gastrokine 3, pseudogene pseudogene pseudogene Approved 2p13.3 02p13.3 2010-01-21 2020-03-24 100132413 ENSG00000283586 OTTHUMG00000191776 NG_016576 P0CG01 20138039 MGI:1916138 RGD:1597754 HGNC:37701 HGNC:4296 GLA galactosidase alpha protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 GALA Galactosidases alpha 1655 2001-06-22 2015-11-18 2023-01-20 2717 ENSG00000102393 OTTHUMG00000022026 uc004ehl.2 X16889 NM_000169 CCDS14484 P06280 "6323102|3014515" MGI:1347344 RGD:1589721 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLA|LRG_672|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_672.xml" 300644 122153 3.2.1.22 HGNC:4296 "ENST00000218516.4|NM_000169.3" HGNC:4296 -HGNC:4298 GLB1 galactosidase beta 1 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 EBP elastin binding protein ELNR1 "elastin receptor 1, 67kDa|elastin receptor 1 (67kD)|galactosidase, beta 1" Galactosidases beta 1654 2001-06-22 2015-11-05 2023-01-20 2720 ENSG00000170266 OTTHUMG00000155781 uc003cfi.2 M22590 NM_000404 "CCDS43062|CCDS43061|CCDS46785" P16278 "110522|3143362" MGI:88151 RGD:1597145 611458 122156 3.2.1.23 HGNC:4298 "ENST00000307363.10|NM_000404.4" HGNC:4298 -HGNC:28129 GLB1L galactosidase beta 1 like protein-coding gene gene with protein product Approved 2q35 02q35 MGC10771 galactosidase, beta 1-like Galactosidases beta 1654 2004-01-13 2015-11-12 2023-01-20 79411 ENSG00000163521 OTTHUMG00000133133 uc002vkn.5 NM_024506 "CCDS2437|CCDS74657" Q6UWU2 12975309 MGI:1921827 RGD:1309474 HGNC:28129 "ENST00000295759.12|NM_001286423.2" +HGNC:4298 GLB1 galactosidase beta 1 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 EBP elastin binding protein ELNR1 "elastin receptor 1, 67kDa|elastin receptor 1 (67kD)|galactosidase, beta 1" Galactosidases beta 1654 2001-06-22 2015-11-05 2023-01-20 2720 ENSG00000170266 OTTHUMG00000155781 uc003cfi.2 M22590 NM_000404 "CCDS43062|CCDS46785|CCDS43061" P16278 "110522|3143362" MGI:88151 RGD:1597145 611458 122156 3.2.1.23 HGNC:4298 "ENST00000307363.10|NM_000404.4" HGNC:4298 +HGNC:28129 GLB1L galactosidase beta 1 like protein-coding gene gene with protein product Approved 2q35 02q35 MGC10771 galactosidase, beta 1-like Galactosidases beta 1654 2004-01-13 2015-11-12 2023-01-20 79411 ENSG00000163521 OTTHUMG00000133133 uc002vkn.5 NM_024506 "CCDS74657|CCDS2437" Q6UWU2 12975309 MGI:1921827 RGD:1309474 HGNC:28129 "ENST00000295759.12|NM_001286423.2" HGNC:25129 GLB1L2 galactosidase beta 1 like 2 protein-coding gene gene with protein product Approved 11q25 11q25 galactosidase, beta 1-like 2 Galactosidases beta 1654 2008-01-29 2015-11-12 2023-01-20 89944 ENSG00000149328 OTTHUMG00000167179 uc001qhp.3 NM_138342 CCDS31724 Q8IW92 12975309 MGI:2388283 RGD:1564436 HGNC:25129 "ENST00000535456.7|NM_001370461.1" HGNC:25147 GLB1L3 galactosidase beta 1 like 3 protein-coding gene gene with protein product Approved 11q25 11q25 FLJ90231 "galactosidase, beta 1-like 3|galactosidase beta 1-like 3" Galactosidases beta 1654 2006-07-04 2015-11-12 2023-03-15 112937 ENSG00000166105 OTTHUMG00000133524 uc009zdf.4 NM_138416 CCDS44780 Q8NCI6 21633714 MGI:1918143 RGD:1561462 HGNC:25147 "ENST00000431683.7|NM_001080407.3" HGNC:18713 GLCCI1 glucocorticoid induced 1 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "GIG18|FAM117C|TSSN1" glucocorticoid induced transcript 1 2002-06-11 2015-02-16 2023-01-20 113263 ENSG00000106415 OTTHUMG00000151984 uc003srk.5 BC050291 NM_138426 CCDS34601 Q86VQ1 MGI:2179717 RGD:1563612 614283 HGNC:18713 "ENST00000223145.10|NM_138426.4" @@ -10300,23 +10301,23 @@ HGNC:48823 GLIDR glioblastoma down-regulated RNA non-coding RNA RNA, long non-co HGNC:17001 GLIPR1 GLI pathogenesis related 1 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "RTVP1|GliPR" GLI pathogenesis-related 1 (glioma) GLIPR family 1358 2002-12-04 2016-03-09 2023-01-20 11010 ENSG00000139278 OTTHUMG00000169757 uc001sxs.4 U16307 NM_006851 CCDS9011 P48060 "7607567|8973356" MGI:1920940 RGD:1305978 602692 HGNC:17001 "ENST00000266659.8|NM_006851.3" HGNC:56075 GLIPR1-AS1 GLIPR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 RP11-585P4.5 Antisense RNAs 1987 2021-12-15 2021-12-15 123706544 ENSG00000257497 XR_007063373 HGNC:28392 GLIPR1L1 GLIPR1 like 1 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 MGC26856 "GLI pathogenesis-related 1 like 1|GLI pathogenesis related 1 like 1" GLIPR family 1358 2006-05-22 2017-12-08 2023-01-20 256710 ENSG00000173401 OTTHUMG00000169755 uc001sxn.4 BC014603 NM_152779 "CCDS9009|CCDS76578" Q6UWM5 20219979 "MGI:1916536|MGI:3620621" RGD:1563000 610395 HGNC:28392 "ENST00000378695.9|NM_001304964.2" -HGNC:28592 GLIPR1L2 GLIPR1 like 2 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 MGC39497 "GLI pathogenesis-related 1 like 2|GLI pathogenesis related 1 like 2" GLIPR family 1358 2006-05-22 2017-12-08 2023-01-20 144321 ENSG00000180481 OTTHUMG00000169756 uc001sxr.3 BC029557 NM_152436 "CCDS58258|CCDS9010" Q4G1C9 12477932 MGI:1914787 RGD:1310205 610394 HGNC:28592 "ENST00000550916.6|NM_001270396.2" -HGNC:18007 GLIPR2 GLI pathogenesis related 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 GAPR-1 C9orf19 "chromosome 9 open reading frame 19|GLI pathogenesis-related 2" CAP superfamily 1356 2002-01-23 2008-08-15 2016-03-16 2023-01-20 152007 ENSG00000122694 OTTHUMG00000019900 uc033cqe.1 AY039756 NM_022343 "CCDS6598|CCDS75833|CCDS69595|CCDS75832" Q9H4G4 "12137952|11865038" MGI:1917770 RGD:1583669 607141 HGNC:18007 "ENST00000377960.9|NM_022343.4" -HGNC:29525 GLIS1 GLIS family zinc finger 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ36155 Gli-similar 1 Zinc fingers C2H2-type 28 2004-07-16 2023-01-20 148979 ENSG00000174332 OTTHUMG00000008079 uc001cvr.2 AK093474 NM_147193 "CCDS582|CCDS90959" Q8NBF1 "12042312|14500813" MGI:2386723 RGD:1308030 610378 HGNC:29525 "ENST00000628545.2|NM_001367484.1" +HGNC:28592 GLIPR1L2 GLIPR1 like 2 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 MGC39497 "GLI pathogenesis-related 1 like 2|GLI pathogenesis related 1 like 2" GLIPR family 1358 2006-05-22 2017-12-08 2023-01-20 144321 ENSG00000180481 OTTHUMG00000169756 uc001sxr.3 BC029557 NM_152436 "CCDS9010|CCDS58258" Q4G1C9 12477932 MGI:1914787 RGD:1310205 610394 HGNC:28592 "ENST00000550916.6|NM_001270396.2" +HGNC:18007 GLIPR2 GLI pathogenesis related 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 GAPR-1 C9orf19 "chromosome 9 open reading frame 19|GLI pathogenesis-related 2" CAP superfamily 1356 2002-01-23 2008-08-15 2016-03-16 2023-01-20 152007 ENSG00000122694 OTTHUMG00000019900 uc033cqe.1 AY039756 NM_022343 "CCDS69595|CCDS75833|CCDS6598|CCDS75832" Q9H4G4 "12137952|11865038" MGI:1917770 RGD:1583669 607141 HGNC:18007 "ENST00000377960.9|NM_022343.4" +HGNC:29525 GLIS1 GLIS family zinc finger 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ36155 Gli-similar 1 Zinc fingers C2H2-type 28 2004-07-16 2023-01-20 148979 ENSG00000174332 OTTHUMG00000008079 uc001cvr.2 AK093474 NM_147193 "CCDS90959|CCDS582" Q8NBF1 "12042312|14500813" MGI:2386723 RGD:1308030 610378 HGNC:29525 "ENST00000628545.2|NM_001367484.1" HGNC:29450 GLIS2 GLIS family zinc finger 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 NPHP7 "nephrocystin-7|Gli-similar 2" Zinc fingers C2H2-type 28 2004-07-16 2023-01-20 84662 ENSG00000126603 OTTHUMG00000129467 uc002cwc.2 AF325914 NM_032575 CCDS10511 Q9BZE0 "11741991|14500813|17618285" MGI:1932535 RGD:1309177 608539 168309 HGNC:29450 "ENST00000433375.2|NM_032575.3" HGNC:29450 HGNC:51381 GLIS2-AS1 GLIS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2014-10-23 2014-10-23 101926896 ENSG00000262686 OTTHUMG00000177619 "BX104227|AI694962" NR_110901 GLIS2-AS1 HGNC:51381 -HGNC:28510 GLIS3 GLIS family zinc finger 3 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 MGC33662 Gli-similar 3 ZNF515 zinc finger protein 515 Zinc fingers C2H2-type 28 2003-12-22 2004-07-16 2004-07-16 2023-01-20 169792 ENSG00000107249 OTTHUMG00000019463 uc003zhx.2 BC033899 NM_152629 "CCDS6451|CCDS43784" Q8NEA6 14500813 MGI:2444289 RGD:1565505 610192 165848 HGNC:28510 "ENST00000381971.8|NM_001042413.2" HGNC:28510 +HGNC:28510 GLIS3 GLIS family zinc finger 3 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 MGC33662 Gli-similar 3 ZNF515 zinc finger protein 515 Zinc fingers C2H2-type 28 2003-12-22 2004-07-16 2004-07-16 2023-01-20 169792 ENSG00000107249 OTTHUMG00000019463 uc003zhx.2 BC033899 NM_152629 "CCDS43784|CCDS6451" Q8NEA6 14500813 MGI:2444289 RGD:1565505 610192 165848 HGNC:28510 "ENST00000381971.8|NM_001042413.2" HGNC:28510 HGNC:28260 GLIS3-AS1 GLIS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.2 09p24.2 MGC16153 C9orf70 "chromosome 9 open reading frame 70|GLIS3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-01-05 2011-08-31 2012-08-15 2018-03-23 84850 ENSG00000237009 OTTHUMG00000019461 uc003zia.4 BC007366 NR_026663 28874676 GLIS3-AS1 HGNC:28260 HGNC:55796 GLIS3-AS2 GLIS3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 9p24.2 09p24.2 Antisense RNAs 1987 2021-07-29 2021-07-29 107986989 ENSG00000228322 HGNC:14373 GLMN glomulin, FKBP associated protein protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "FAP48|FAP68|GLML|GVM|FKBPAP" VMGLOM venous malformation with glomus cells 2003-07-14 2004-07-01 2023-03-15 11146 ENSG00000174842 OTTHUMG00000010283 uc001dor.4 U73704 NM_007070 CCDS738 Q92990 "8955134|22748924" MGI:2141180 RGD:1588600 601749 122172 HGNC:14373 "ENST00000370360.8|NM_053274.3" HGNC:14373 -HGNC:29436 GLMP glycosylated lysosomal membrane protein protein-coding gene gene with protein product Approved 1q22 01q22 "MGC31963|NCU-G1|lnc-UCID" "kidney lysosomal membrane protein|lncRNA up-regulating CDK6 by interacting with DHX9" C1orf85 chromosome 1 open reading frame 85 2005-05-27 2015-01-09 2015-01-09 2023-02-01 112770 ENSG00000198715 OTTHUMG00000019789 BC011575 NM_144580 "CCDS72947|CCDS1139|CCDS72949|CCDS72948" Q8WWB7 "18021396|19489740|31661432" MGI:1913318 RGD:1303130 619958 HGNC:29436 "ENST00000362007.6|NM_144580.3" +HGNC:29436 GLMP glycosylated lysosomal membrane protein protein-coding gene gene with protein product Approved 1q22 01q22 "MGC31963|NCU-G1|lnc-UCID" "kidney lysosomal membrane protein|lncRNA up-regulating CDK6 by interacting with DHX9" C1orf85 chromosome 1 open reading frame 85 2005-05-27 2015-01-09 2015-01-09 2023-02-01 112770 ENSG00000198715 OTTHUMG00000019789 BC011575 NM_144580 "CCDS72949|CCDS1139|CCDS72948|CCDS72947" Q8WWB7 "18021396|19489740|31661432" MGI:1913318 RGD:1303130 619958 HGNC:29436 "ENST00000362007.6|NM_144580.3" HGNC:4323 GLO1 glyoxalase I protein-coding gene gene with protein product Approved 6p21.2 06p21.2 GLOD1 lactoylglutathione lyase Glyoxalase domain containing family 2111 2001-06-22 2023-01-20 2739 ENSG00000124767 OTTHUMG00000014636 uc003ooc.4 L07837 NM_006708 CCDS4837 Q04760 "8449929|7684374" MGI:95742 RGD:2702 138750 4.4.1.5 HGNC:4323 "ENST00000373365.5|NM_006708.3" HGNC:14111 GLOD4 glyoxalase domain containing 4 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "CGI-150|HC71" C17orf25 chromosome 17 open reading frame 25 Glyoxalase domain containing family 2111 2004-06-24 2007-03-14 2007-03-14 2023-01-20 51031 ENSG00000167699 OTTHUMG00000177497 uc002fru.4 AF177342 NM_016080 "CCDS32520|CCDS92216" Q9HC38 "11642406|12528892" MGI:1914451 RGD:1307010 HGNC:14111 "ENST00000301329.11|NM_016080.4" HGNC:33358 GLOD5 glyoxalase domain containing 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 Glyoxalase domain containing family 2111 2007-03-14 2023-01-20 392465 ENSG00000171433 OTTHUMG00000024125 uc011mmh.3 NM_001080489 CCDS55410 A6NK44 MGI:1917074 RGD:1564596 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLOD5 HGNC:33358 "ENST00000303227.11|NM_001080489.3" HGNC:4324 GLP1R glucagon like peptide 1 receptor protein-coding gene gene with protein product Approved 6p21.2 06p21.2 GLP-1R glucagon-like peptide 1 receptor Glucagon receptor family 269 1993-03-11 2015-11-18 2023-01-20 2740 ENSG00000112164 OTTHUMG00000014638 uc003ooj.5 NM_002062 CCDS4839 P43220 MGI:99571 RGD:2703 138032 objectId:249 HGNC:4324 "ENST00000373256.5|NM_002062.5" HGNC:4325 GLP2R glucagon like peptide 2 receptor protein-coding gene gene with protein product Approved 17p13.1 17p13.1 glucagon-like peptide 2 receptor Glucagon receptor family 269 1999-02-23 2016-03-30 2023-01-20 9340 ENSG00000065325 OTTHUMG00000130269 uc002gmd.2 AF105367 NM_004246 CCDS11150 O95838 9990065 MGI:2136733 RGD:620270 603659 objectId:250 HGNC:4325 "ENST00000262441.10|NM_004246.3" HGNC:4326 GLRA1 glycine receptor alpha 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 stiff person syndrome STHE glycine receptor, alpha 1 (startle disease/hyperekplexia) Glycine receptors 868 1990-06-15 2015-11-13 2023-01-20 2741 ENSG00000145888 OTTHUMG00000130121 uc003lur.4 NM_000171 "CCDS54942|CCDS4320" P23415 "1355335|8298642" MGI:95747 RGD:2704 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLRA1 138491 122179 objectId:423 HGNC:4326 "ENST00000274576.9|NM_000171.4" HGNC:4326 -HGNC:4327 GLRA2 glycine receptor alpha 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 GLR Glycine receptors 868 1989-05-23 2015-11-13 2023-01-20 2742 ENSG00000101958 OTTHUMG00000021166 uc010neq.4 NM_001118885 "CCDS48085|CCDS14160|CCDS55371" P23416 MGI:95748 RGD:2705 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLRA2 305990 objectId:424 HGNC:4327 "ENST00000218075.9|NM_002063.4" +HGNC:4327 GLRA2 glycine receptor alpha 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 GLR Glycine receptors 868 1989-05-23 2015-11-13 2023-01-20 2742 ENSG00000101958 OTTHUMG00000021166 uc010neq.4 NM_001118885 "CCDS55371|CCDS14160|CCDS48085" P23416 MGI:95748 RGD:2705 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLRA2 305990 objectId:424 HGNC:4327 "ENST00000218075.9|NM_002063.4" HGNC:4328 GLRA3 glycine receptor alpha 3 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 Glycine receptors 868 1999-12-07 2015-11-13 2023-01-20 8001 ENSG00000145451 OTTHUMG00000149816 uc003ity.3 AF017724 NM_001042543 "CCDS3822|CCDS43283" O75311 9677400 MGI:95749 RGD:621229 600421 objectId:425 HGNC:4328 "ENST00000274093.8|NM_006529.4" HGNC:31715 GLRA4 glycine receptor alpha 4 (pseudogene) pseudogene pseudogene Approved Xq22.2 Xq22.2 glycine receptor alpha 4 Glycine receptors 868 2005-06-01 2019-10-30 2023-03-15 441509 ENSG00000188828 OTTHUMG00000022110 uc011mse.3 Z93848 NR_164162 29445326 MGI:95750 RGD:1564103 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLRA4 objectId:426 HGNC:31715 HGNC:4329 GLRB glycine receptor beta protein-coding gene gene with protein product Approved 4q32.1 04q32.1 Glycine receptors 868 1998-08-21 2015-11-13 2023-01-20 2743 ENSG00000109738 OTTHUMG00000161954 uc003ipj.3 U33267 NM_000824 "CCDS54813|CCDS3796" P48167 "9676428|8717357" MGI:95751 RGD:2706 138492 122182 objectId:427 HGNC:4329 "ENST00000264428.9|NM_000824.5" HGNC:4329 @@ -10334,14 +10335,14 @@ HGNC:18376 GLRXP2 glutaredoxin pseudogene 2 pseudogene pseudogene Approved 14q32 HGNC:34049 GLRXP3 glutaredoxin pseudogene 3 pseudogene pseudogene Approved 5q34 05q34 GLRXL "glutaredoxin (thioltransferase)-like|glutaredoxin (thioltransferase) pseudogene 3" 2008-04-03 2009-05-19 2016-06-27 2023-03-15 100132510 ENSG00000118990 OTTHUMG00000157505 NG_009942 PGOHUM00000300811 HGNC:34049 HGNC:4331 GLS glutaminase protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "KIAA0838|GLS1|GAC|GAM|KGA" "glutaminase C|K-glutaminase" Ankyrin repeat domain containing 403 1989-02-07 2023-01-20 2744 ENSG00000115419 OTTHUMG00000132701 uc002usf.4 AB020645 NM_001256310 "CCDS58744|CCDS2308" O94925 10048485 MGI:95752 RGD:2707 138280 objectId:2891 3.5.1.2 HGNC:4331 "ENST00000320717.8|NM_014905.5" HGNC:4331 HGNC:29570 GLS2 glutaminase 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "GA|GLS|LGA|hLGA" glutaminase 2 (liver, mitochondrial) Ankyrin repeat domain containing 403 2004-03-11 2015-12-04 2023-03-15 27165 ENSG00000135423 OTTHUMG00000140379 uc001slj.5 NM_013267 "CCDS73482|CCDS8921" Q9UI32 "11130979|10620514" MGI:2143539 RGD:620359 606365 3.5.1.2 HGNC:29570 "ENST00000311966.9|NM_013267.4" -HGNC:26483 GLT1D1 glycosyltransferase 1 domain containing 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 FLJ31978 Glycosyl transferases group 1 domain containing 427 2006-01-16 2023-01-20 144423 ENSG00000151948 OTTHUMG00000168437 uc058vcn.1 NM_144669 "CCDS9265|CCDS91773" Q96MS3 MGI:2442755 RGD:1304896 HGNC:26483 "ENST00000281703.11|NM_144669.3" +HGNC:26483 GLT1D1 glycosyltransferase 1 domain containing 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 FLJ31978 Glycosyl transferases group 1 domain containing 427 2006-01-16 2023-01-20 144423 ENSG00000151948 OTTHUMG00000168437 uc058vcn.1 NM_144669 "CCDS91773|CCDS9265" Q96MS3 MGI:2442755 RGD:1304896 HGNC:26483 "ENST00000281703.11|NM_144669.3" HGNC:23671 GLT6D1 glycosyltransferase 6 domain containing 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 GLTDC1 galactosyltransferase family 6 domain containing 1 Glycosyltransferase family 6 429 2003-12-01 2004-09-17 2004-09-16 2023-01-20 360203 ENSG00000204007 OTTHUMG00000020911 uc010nbd.1 AY336054 NM_182974 CCDS43900 Q7Z4J2 MGI:1918353 RGD:1311348 613699 HGNC:23671 "ENST00000371763.6|NM_182974.3" HGNC:24870 GLT8D1 glycosyltransferase 8 domain containing 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "AD-017|FLJ14611" Glycosyltransferase family 8 436 2005-01-19 2023-01-20 55830 ENSG00000016864 OTTHUMG00000158759 uc003dfm.5 AY358579 NM_152932 CCDS2862 Q68CQ7 12975309 MGI:1923735 RGD:1359293 618399 HGNC:24870 "ENST00000266014.11|NM_018446.4" HGNC:24870 HGNC:24890 GLT8D2 glycosyltransferase 8 domain containing 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 FLJ31494 Glycosyltransferase family 8 436 2005-01-19 2023-01-20 83468 ENSG00000120820 OTTHUMG00000170120 uc001tki.2 BC022343 NM_031302 CCDS9096 Q9H1C3 MGI:1922032 RGD:1560432 HGNC:24890 "ENST00000360814.9|NM_001384711.1" HGNC:24867 GLTP glycolipid transfer protein protein-coding gene gene with protein product Approved 12q24.11 12q24.11 2006-01-06 2023-01-20 51228 ENSG00000139433 OTTHUMG00000169278 uc001tpm.3 "AF209704|AY372530" NM_016433 CCDS9136 Q9NZD2 "15287756|15901739" MGI:1929253 RGD:1564442 608949 HGNC:24867 "ENST00000318348.9|NM_016433.4" HGNC:33756 GLTPD2 glycolipid transfer protein domain containing 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 2007-12-19 2023-01-20 388323 ENSG00000182327 OTTHUMG00000177929 uc002fza.3 BC029290 NM_001014985 CCDS32534 A6NH11 MGI:2444527 RGD:1560459 HGNC:33756 "ENST00000331264.8|NM_001014985.3" HGNC:33991 GLTPP1 glycolipid transfer protein pseudogene 1 pseudogene pseudogene Approved 11p15.1 11p15.1 2008-02-11 2012-03-09 645312 ENSG00000255138 OTTHUMG00000166443 AY039109 NG_007407 HGNC:33991 -HGNC:4335 GLUD1 glutamate dehydrogenase 1 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "GDH|GDH1|hGDH1" GLUD 1986-01-01 2023-01-20 2746 ENSG00000148672 OTTHUMG00000018666 uc001keh.4 M20867 NM_005271 "CCDS7382|CCDS91291" P00367 "2757358|11903050" MGI:95753 RGD:2708 138130 122188 1.4.1.3 HGNC:4335 "ENST00000277865.5|NM_005271.5" HGNC:4335 +HGNC:4335 GLUD1 glutamate dehydrogenase 1 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "GDH|GDH1|hGDH1" GLUD 1986-01-01 2023-01-20 2746 ENSG00000148672 OTTHUMG00000018666 uc001keh.4 M20867 NM_005271 "CCDS91291|CCDS7382" P00367 "2757358|11903050" MGI:95753 RGD:2708 138130 122188 1.4.1.3 HGNC:4335 "ENST00000277865.5|NM_005271.5" HGNC:4335 HGNC:4337 GLUD1P2 glutamate dehydrogenase 1 pseudogene 2 pseudogene pseudogene Approved 10q11.22 10q11.22 bA342C24.3 "GLUDP2|GLUD1P7|GLUDP7" "glutamate dehydrogenase pseudogene 2|glutamate dehydrogenase 1 pseudogene 7|glutamate dehydrogenase pseudogene 7" 1993-03-03 2010-01-18 2010-01-18 2020-04-20 414212 ENSG00000265366 OTTHUMG00000018100 "X66313|X66315|X66319" NG_016765 8486350 HGNC:4337 HGNC:4338 GLUD1P3 glutamate dehydrogenase 1 pseudogene 3 pseudogene pseudogene Approved 10q22.2 10q22.2 Em:AC022400.11 "GLUDP3|C10orf102" "glutamate dehydrogenase pseudogene 3|chromosome 10 open reading frame 102" 1993-03-03 2010-01-18 2010-01-18 2016-02-12 2749 ENSG00000250959 OTTHUMG00000018477 X66316 NR_048575 8486350 HGNC:4338 HGNC:4339 GLUD1P4 glutamate dehydrogenase 1 pseudogene 4 pseudogene pseudogene Approved 18q21.32 18q21.32 GLUDP4 glutamate dehydrogenase pseudogene 4 1993-04-30 2010-01-18 2010-01-18 2015-02-04 2750 ENSG00000267486 OTTHUMG00000179948 X66314 NG_005046 8486350 PGOHUM00000294799 HGNC:4339 @@ -10356,8 +10357,8 @@ HGNC:4344 GLULP3 glutamate-ammonia ligase pseudogene 3 pseudogene pseudogene App HGNC:4345 GLULP4 glutamate-ammonia ligase pseudogene 4 pseudogene pseudogene Approved 9p13.3 09p13.3 GLULP "glutamate-ammonia ligase (glutamine synthase) pseudogene|glutamate-ammonia ligase (glutamine synthetase) pseudogene|glutamate-ammonia ligase (glutamine synthetase) pseudogene 4" 1996-09-24 2010-03-16 2016-06-27 2016-06-27 392305 ENSG00000178723 OTTHUMG00000019842 NG_005208 8921392 PGOHUM00000236446 HGNC:4345 HGNC:37989 GLULP5 glutamate-ammonia ligase pseudogene 5 pseudogene pseudogene Approved 12q24.21 12q24.21 glutamate-ammonia ligase (glutamine synthetase) pseudogene 5 2010-03-17 2016-06-27 2017-03-28 100421694 ENSG00000257915 OTTHUMG00000169479 NG_021735 PGOHUM00000291812 HGNC:37989 HGNC:37990 GLULP6 glutamate-ammonia ligase pseudogene 6 pseudogene pseudogene Approved 2q32.3 02q32.3 glutamate-ammonia ligase (glutamine synthetase) pseudogene 6 2010-03-17 2016-06-27 2016-06-27 343981 ENSG00000215043 OTTHUMG00000154356 NG_021543 PGOHUM00000240465 HGNC:37990 -HGNC:13734 GLYAT glycine-N-acyltransferase protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "GAT|ACGNAT" 2001-05-04 2023-01-20 10249 ENSG00000149124 OTTHUMG00000167429 uc001nnb.4 AF023466 NM_201648 "CCDS7971|CCDS7970" Q6IB77 MGI:2147502 RGD:1307163 607424 2.3.1.13 HGNC:13734 "ENST00000344743.8|NM_201648.3" -HGNC:30519 GLYATL1 glycine-N-acyltransferase like 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "MGC15397|FLJ34646" glycine-N-acyltransferase-like 1 2005-09-11 2015-11-18 2023-01-20 92292 ENSG00000166840 OTTHUMG00000167221 uc001nnf.4 AK091965 NM_080661 "CCDS91475|CCDS31556|CCDS55768" Q969I3 22475485 614761 HGNC:30519 "ENST00000532726.6|NM_001389712.2" +HGNC:13734 GLYAT glycine-N-acyltransferase protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "GAT|ACGNAT" 2001-05-04 2023-01-20 10249 ENSG00000149124 OTTHUMG00000167429 uc001nnb.4 AF023466 NM_201648 "CCDS7970|CCDS7971" Q6IB77 MGI:2147502 RGD:1307163 607424 2.3.1.13 HGNC:13734 "ENST00000344743.8|NM_201648.3" +HGNC:30519 GLYATL1 glycine-N-acyltransferase like 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "MGC15397|FLJ34646" glycine-N-acyltransferase-like 1 2005-09-11 2015-11-18 2023-01-20 92292 ENSG00000166840 OTTHUMG00000167221 uc001nnf.4 AK091965 NM_080661 "CCDS55768|CCDS91475|CCDS31556" Q969I3 22475485 614761 HGNC:30519 "ENST00000532726.6|NM_001389712.2" HGNC:37865 GLYATL1B glycine-N-acyltransferase like 1B protein-coding gene gene with protein product Approved 11q12.1 11q12.1 GLYATL1P3 "glycine-N-acyltransferase-like 1 pseudogene 3|glycine-N-acyltransferase like 1 pseudogene 3" 2010-09-29 2017-09-28 2017-09-28 2023-01-20 100287520 ENSG00000255151 OTTHUMG00000167278 uc284mza.1 NM_001355566 CCDS86204 A0A0U1RQE8 PGOHUM00000290984 HGNC:37865 "ENST00000527482.2|NM_001355566.1" HGNC:37866 GLYATL1P1 glycine-N-acyltransferase like 1 pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 glycine-N-acyltransferase-like 1 pseudogene 1 2010-03-05 2015-11-18 2015-11-18 100129032 ENSG00000255189 OTTHUMG00000167275 NG_022951 PGOHUM00000290982 HGNC:37866 HGNC:37863 GLYATL1P2 glycine-N-acyltransferase like 1 pseudogene 2 pseudogene pseudogene Approved 11q12.1 11q12.1 glycine-N-acyltransferase-like 1 pseudogene 2 2010-03-05 2015-11-18 2015-11-18 100129933 ENSG00000254717 OTTHUMG00000167220 XR_037279 PGOHUM00000242743 HGNC:37863 @@ -10365,52 +10366,52 @@ HGNC:37864 GLYATL1P4 glycine-N-acyltransferase like 1 pseudogene 4 pseudogene ps HGNC:24178 GLYATL2 glycine-N-acyltransferase like 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "BXMAS2-10|MGC24009" glycine-N-acyltransferase-like 2 2005-09-11 2015-11-18 2023-01-20 219970 ENSG00000156689 OTTHUMG00000167432 uc001nnd.6 AF426250 NM_145016 CCDS41649 Q8WU03 20305126 614762 2.3.1.13 HGNC:24178 "ENST00000287275.6|NM_145016.4" HGNC:21349 GLYATL3 glycine-N-acyltransferase like 3 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 bA28H17.2 C6orf140 "chromosome 6 open reading frame 140|glycine-N-acyltransferase-like 3" 2003-11-26 2009-12-14 2015-11-18 2023-01-20 389396 ENSG00000203972 OTTHUMG00000014818 uc003ozi.4 NM_001010904 CCDS47440 Q5SZD4 20305126 MGI:3647683 RGD:1587643 614763 HGNC:21349 "ENST00000371197.9|NM_001010904.2" HGNC:18023 GLYCAM1 glycosylation dependent cell adhesion molecule 1 (pseudogene) pseudogene pseudogene Approved 12q13.2 12q13.2 glycosylation dependent cell adhesion molecule 1 2006-01-23 2008-03-11 2019-12-17 644076 ENSG00000257780 OTTHUMG00000169935 AJ489589 NR_003039 Q8IVK1 12057858 MGI:95759 HGNC:18023 -HGNC:24247 GLYCTK glycerate kinase protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "HBEBP4|HBEBP2" 2008-01-22 2023-01-20 132158 ENSG00000168237 OTTHUMG00000158380 uc003ddo.4 NM_145262 "CCDS2852|CCDS46841" Q8IVS8 16753811 MGI:2444085 RGD:1591498 610516 260595 2.7.1.31 HGNC:24247 "ENST00000436784.7|NM_145262.4" HGNC:24247 +HGNC:24247 GLYCTK glycerate kinase protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "HBEBP4|HBEBP2" 2008-01-22 2023-01-20 132158 ENSG00000168237 OTTHUMG00000158380 uc003ddo.4 NM_145262 "CCDS46841|CCDS2852" Q8IVS8 16753811 MGI:2444085 RGD:1591498 610516 260595 2.7.1.31 HGNC:24247 "ENST00000436784.7|NM_145262.4" HGNC:24247 HGNC:41043 GLYCTK-AS1 GLYCTK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.1 03p21.1 GLYCTK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874110 ENSG00000242797 OTTHUMG00000158379 uc062klb.1 NR_046719 GLYCTK-AS1 HGNC:41043 -HGNC:24434 GLYR1 glyoxylate reductase 1 homolog protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "BM045|HIBDL|NP60|N-PAC" nuclear protein 60kDa glyoxylate reductase 1 homolog (Arabidopsis) PWWP domain containing 1147 2009-08-14 2016-03-21 2023-01-20 84656 ENSG00000140632 OTTHUMG00000129530 uc002cxx.5 AF244907 NM_032569 "CCDS92098|CCDS10524|CCDS81945" Q49A26 16352664 MGI:1921272 RGD:1309459 610660 HGNC:24434 "ENST00000321919.14|NM_032569.4" +HGNC:24434 GLYR1 glyoxylate reductase 1 homolog protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "BM045|HIBDL|NP60|N-PAC" nuclear protein 60kDa glyoxylate reductase 1 homolog (Arabidopsis) PWWP domain containing 1147 2009-08-14 2016-03-21 2023-01-20 84656 ENSG00000140632 OTTHUMG00000129530 uc002cxx.5 AF244907 NM_032569 "CCDS81945|CCDS10524|CCDS92098" Q49A26 16352664 MGI:1921272 RGD:1309459 610660 HGNC:24434 "ENST00000321919.14|NM_032569.4" HGNC:4367 GM2A ganglioside GM2 activator protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "SAP-3|GM2-AP|GM2AP" "cerebroside sulfate activator protein|sphingolipid activator protein 3|GM2-activator protein" "GM2 ganglioside activator protein|GM2 ganglioside activator" MD-2 related lipid recognition domain containing 2129 1986-01-01 2022-04-14 2023-01-20 2760 ENSG00000196743 OTTHUMG00000130124 uc003ltr.5 NM_000405 CCDS4313 P17900 "115863|1915857" MGI:95762 RGD:628651 613109 122192 HGNC:4367 "ENST00000357164.4|NM_000405.5" HGNC:4367 HGNC:4368 GM2AP1 GM2A pseudogene 1 pseudogene pseudogene Approved 3q24 03q24 GM2AP "GM2 ganglioside activator protein pseudogene|GM2 ganglioside activator pseudogene|GM2 ganglioside activator pseudogene 1" 1992-03-03 2010-03-17 2022-04-14 2022-04-14 2761 ENSG00000241695 OTTHUMG00000159389 L01440 NG_001130 1427911 PGOHUM00000238224 HGNC:4368 HGNC:38002 GM2AP2 GM2A pseudogene 2 pseudogene pseudogene Approved 1q24.3 01q24.3 GM2 ganglioside activator pseudogene 2 2010-03-17 2022-04-14 2022-04-14 100287900 ENSG00000239428 OTTHUMG00000158542 NG_022818 PGOHUM00000245084 HGNC:38002 HGNC:23843 GMCL1 germ cell-less 1, spermatogenesis associated protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "FLJ13057|BTBD13|GCL1|SPATA29" spermatogenesis associated 29 germ cell-less homolog 1 (Drosophila) BTB domain containing 861 2006-01-31 2019-01-21 2023-01-20 64395 ENSG00000087338 OTTHUMG00000129643 uc002sfu.4 AK023119 NM_178439 CCDS1895 Q96IK5 MGI:1345156 RGD:1359265 618627 HGNC:23843 "ENST00000282570.4|NM_178439.5" HGNC:42863 GMCL1P2 GMCL1 pseudogene 2 pseudogene pseudogene Approved 2q12.3 02q12.3 "germ cell-less homolog 1 (Drosophila) pseudogene 2|germ cell-less, spermatogenesis associated 1 pseudogene 2" 2011-09-02 2019-01-21 2019-01-21 100420975 ENSG00000271070 OTTHUMG00000184264 NG_023717 PGOHUM00000298617 HGNC:42863 HGNC:19717 GMCL2 germ cell-less 2, spermatogenesis associated protein-coding gene gene with protein product Approved 5q35.3 05q35.3 GCL "GMCL1L|GMCL1P1" "germ cell-less homolog 1 (Drosophila)-like|germ cell-less homolog 1 (Drosophila) pseudogene 1|germ cell-less, spermatogenesis associated 1 pseudogene 1" 2006-01-31 2017-11-22 2019-01-21 2023-01-20 64396 ENSG00000244234 OTTHUMG00000130894 AK315701 NM_001358008 CCDS4433 Q8NEA9 16201836 MGI:1345156 618629 PGOHUM00000235472 HGNC:19717 "ENST00000463439.3|NM_001358008.2" -HGNC:4369 GMDS GDP-mannose 4,6-dehydratase protein-coding gene gene with protein product Approved 6p25.3 06p25.3 "GMD|SDR3E1" short chain dehydrogenase/reductase family 3E, member 1 Short chain dehydrogenase/reductase superfamily 743 1998-05-07 2023-01-20 2762 ENSG00000112699 OTTHUMG00000016143 uc003mtq.4 AF042377 NM_001253846 "CCDS4474|CCDS58994" O60547 "9525924|19027726" MGI:1891112 RGD:1311008 602884 4.2.1.47 HGNC:4369 "ENST00000380815.5|NM_001500.4" +HGNC:4369 GMDS GDP-mannose 4,6-dehydratase protein-coding gene gene with protein product Approved 6p25.3 06p25.3 "GMD|SDR3E1" short chain dehydrogenase/reductase family 3E, member 1 Short chain dehydrogenase/reductase superfamily 743 1998-05-07 2023-01-20 2762 ENSG00000112699 OTTHUMG00000016143 uc003mtq.4 AF042377 NM_001253846 "CCDS58994|CCDS4474" O60547 "9525924|19027726" MGI:1891112 RGD:1311008 602884 4.2.1.47 HGNC:4369 "ENST00000380815.5|NM_001500.4" HGNC:48993 GMDS-DT GMDS divergent transcript non-coding RNA RNA, long non-coding Approved 6p25.3-p25.2 06p25.3-p25.2 GMDS-AS1 GMDS antisense RNA 1 (head to head) Divergent transcripts 1990 2013-07-25 2018-03-22 2018-03-22 2020-01-10 100508120 ENSG00000250903 OTTHUMG00000014120 NR_046229 31860169 GMDS-AS1 HGNC:48993 HGNC:4370 GMEB1 glucocorticoid modulatory element binding protein 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "P96PIF|PIF96" 1999-07-07 2023-01-20 10691 ENSG00000162419 OTTHUMG00000003647 uc001bra.4 AF099013 NM_006582 "CCDS327|CCDS328" Q9Y692 "10386584|10523663" MGI:2135604 RGD:1563208 604409 HGNC:4370 "ENST00000373816.6|NM_001319674.2" HGNC:4371 GMEB2 glucocorticoid modulatory element binding protein 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "P79PIF|KIAA1269|PIF79" 2000-03-30 2023-01-20 26205 ENSG00000101216 OTTHUMG00000032988 uc002yfq.2 AF173867 NM_012384 CCDS13528 Q9UKD1 "10523663|11743720" MGI:2652836 RGD:620481 607451 HGNC:4371 "ENST00000370077.2|NM_012384.5" HGNC:4373 GMFB glia maturation factor beta protein-coding gene gene with protein product Approved 14q22.2 14q22.2 GMF 1992-10-15 2016-02-09 2023-01-20 2764 ENSG00000197045 OTTHUMG00000140307 uc021rtf.2 M86492 NM_004124 CCDS9718 P60983 1712830 MGI:1927133 RGD:70910 601713 HGNC:4373 "ENST00000358056.8|NM_004124.3" HGNC:38654 GMFBP1 glia maturation factor beta pseudogene 1 pseudogene pseudogene Approved 3q12.2 03q12.2 2010-07-06 2016-02-09 2016-02-09 100499251 ENSG00000243495 OTTHUMG00000159084 NG_023431 PGOHUM00000237696 HGNC:38654 -HGNC:4374 GMFG glia maturation factor gamma protein-coding gene gene with protein product Approved 19q13.2 19q13.2 1999-05-25 2016-02-09 2023-01-20 9535 ENSG00000130755 OTTHUMG00000182811 uc002okz.5 AB001993 NM_001301008 "CCDS92613|CCDS12532|CCDS74364" O60234 "9545571|9653160|17127212" MGI:1927135 RGD:620506 604104 HGNC:4374 "ENST00000597595.6|NM_004877.4" -HGNC:24852 GMIP GEM interacting protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 ARHGAP46 AH/BAR family Rho GTPase activating proteins 1923 2004-07-29 2023-01-20 51291 ENSG00000089639 OTTHUMG00000182329 uc002nnd.5 AF132541 NM_016573 "CCDS74318|CCDS12408" Q9P107 "12093360|16086184|25173885" MGI:1926066 RGD:1565577 609694 HGNC:24852 "ENST00000203556.9|NM_016573.4" +HGNC:4374 GMFG glia maturation factor gamma protein-coding gene gene with protein product Approved 19q13.2 19q13.2 1999-05-25 2016-02-09 2023-01-20 9535 ENSG00000130755 OTTHUMG00000182811 uc002okz.5 AB001993 NM_001301008 "CCDS12532|CCDS92613|CCDS74364" O60234 "9545571|9653160|17127212" MGI:1927135 RGD:620506 604104 HGNC:4374 "ENST00000597595.6|NM_004877.4" +HGNC:24852 GMIP GEM interacting protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 ARHGAP46 AH/BAR family Rho GTPase activating proteins 1923 2004-07-29 2023-01-20 51291 ENSG00000089639 OTTHUMG00000182329 uc002nnd.5 AF132541 NM_016573 "CCDS12408|CCDS74318" Q9P107 "12093360|16086184|25173885" MGI:1926066 RGD:1565577 609694 HGNC:24852 "ENST00000203556.9|NM_016573.4" HGNC:4375 GML glycosylphosphatidylinositol anchored molecule like protein-coding gene gene with protein product Approved 8q24.3 08q24.3 LY6DL "GPI anchored molecule like protein|glycosylphosphatidylinositol anchored molecule like protein" LY6/PLAUR domain containing 1226 1997-03-19 2012-11-02 2023-01-20 2765 ENSG00000104499 OTTHUMG00000164656 uc003yxg.3 D84290 NM_002066 CCDS6391 Q99445 "8934543|9169150" "MGI:1341831|MGI:3644767" RGD:1307850 602370 HGNC:4375 "ENST00000220940.2|NM_002066.3" HGNC:40049 GMNC geminin coiled-coil domain containing protein-coding gene gene with protein product Approved 3q28 03q28 GEMC1 2011-08-19 2011-08-19 2023-01-20 647309 ENSG00000205835 OTTHUMG00000156195 uc011bsl.2 BC031680 NM_001146686 CCDS54697 A6NCL1 "20383140|20855966" MGI:2685452 RGD:1563170 614448 HGNC:40049 "ENST00000442080.6|NM_001146686.3" HGNC:17493 GMNN geminin DNA replication inhibitor protein-coding gene gene with protein product Approved 6p22.3 06p22.3 Gem 2002-08-19 2019-01-21 2023-01-20 51053 ENSG00000112312 OTTHUMG00000014363 uc003nem.4 AF067855 NM_015895 CCDS4560 O75496 9635433 MGI:1927344 RGD:1308137 602842 451459 HGNC:17493 "ENST00000230056.8|NM_015895.5" HGNC:17493 HGNC:22923 GMPPA GDP-mannose pyrophosphorylase A protein-coding gene gene with protein product Approved 2q35 02q35 2005-01-10 2023-01-20 29926 ENSG00000144591 OTTHUMG00000058922 uc002vlr.4 AF135422 NM_013335 CCDS2441 Q96IJ6 MGI:1916330 RGD:1560644 615495 377682 HGNC:22923 "ENST00000313597.10|NM_013335.4" HGNC:22923 HGNC:22932 GMPPB GDP-mannose pyrophosphorylase B protein-coding gene gene with protein product Approved 3p21.31 03p21.31 KIAA1851 mannose-1-phosphate guanyltransferase beta 2005-01-10 2023-01-20 29925 ENSG00000173540 OTTHUMG00000158151 uc062jwy.1 AF135421 NM_013334 "CCDS2803|CCDS2802" Q9Y5P6 MGI:2660880 RGD:1560458 615320 361109 2.7.7.13 HGNC:22932 "ENST00000308388.7|NM_021971.4" HGNC:22932 HGNC:4376 GMPR guanosine monophosphate reductase protein-coding gene gene with protein product Approved 6p22.3 06p22.3 GMPR1 GMP reductase 1 1990-11-09 2023-05-09 2766 ENSG00000137198 OTTHUMG00000014302 uc003nbs.3 NM_006877 CCDS4537 P36959 2194676 MGI:1913605 RGD:70980 139265 1.7.1.7 HGNC:4376 "ENST00000259727.5|NM_006877.4" -HGNC:4377 GMPR2 guanosine monophosphate reductase 2 protein-coding gene gene with protein product Approved 14q12 14q12 1999-07-19 2023-01-20 51292 ENSG00000100938 OTTHUMG00000171912 uc001wns.5 NM_016576 "CCDS73624|CCDS41935|CCDS61419|CCDS45087" Q9P2T1 MGI:1917903 RGD:628875 610781 HGNC:4377 "ENST00000399440.7|NM_001002002.3" +HGNC:4377 GMPR2 guanosine monophosphate reductase 2 protein-coding gene gene with protein product Approved 14q12 14q12 1999-07-19 2023-01-20 51292 ENSG00000100938 OTTHUMG00000171912 uc001wns.5 NM_016576 "CCDS45087|CCDS41935|CCDS73624|CCDS61419" Q9P2T1 MGI:1917903 RGD:628875 610781 HGNC:4377 "ENST00000399440.7|NM_001002002.3" HGNC:4378 GMPS guanine monophosphate synthase protein-coding gene gene with protein product Approved 3q25.31 03q25.31 GATD7 GMP synthase guanine monophosphate synthetase Glutamine amidotransferase class 1 domain containing 1408 1999-01-22 2015-09-01 2023-01-20 8833 ENSG00000163655 OTTHUMG00000158551 uc003faq.4 U10860 NM_003875 CCDS46941 P49915 "8089153|9195163" MGI:2448526 RGD:1310063 600358 6.3.5.2 HGNC:4378 "ENST00000496455.7|NM_003875.3" HGNC:39428 GMPSP1 guanine monophosphate synthase pseudogene 1 pseudogene pseudogene Approved 4p16.1 04p16.1 2010-12-14 2015-09-01 2015-09-01 728564 ENSG00000250471 OTTHUMG00000160021 NG_023314 PGOHUM00000245819 HGNC:39428 HGNC:4379 GNA11 G protein subunit alpha 11 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FBH|FBH2|FHH2" HHC2 "hypocalciuric hypercalcemia 2|guanine nucleotide binding protein (G protein), alpha 11 (Gq class)" G protein subunits alpha, group q 1427 1992-07-20 2016-03-03 2023-01-20 2767 ENSG00000088256 OTTHUMG00000180631 uc010xhe.5 AF493900 NM_002067 CCDS12103 P29992 "1302014|23802516" MGI:95766 RGD:619749 LRG_1111|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1111.xml GNA11 139313 360224 HGNC:4379 "ENST00000078429.9|NM_002067.5" HGNC:4379 -HGNC:4380 GNA12 G protein subunit alpha 12 protein-coding gene gene with protein product Approved 7p22.3-p22.2 07p22.3-p22.2 gep guanine nucleotide binding protein (G protein) alpha 12 1993-07-26 2016-03-03 2023-01-20 2768 ENSG00000146535 OTTHUMG00000023064 uc003smu.5 L01694 NM_007353 "CCDS5335|CCDS64583|CCDS64584" Q03113 "8423800|16247467" MGI:95767 RGD:71018 604394 HGNC:4380 "ENST00000275364.8|NM_007353.3" -HGNC:4381 GNA13 G protein subunit alpha 13 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 "G13|MGC46138" guanine nucleotide binding protein (G protein), alpha 13 1999-07-14 2016-03-03 2023-01-20 10672 ENSG00000120063 OTTHUMG00000179316 uc002jfc.4 L22075 NM_006572 "CCDS11661|CCDS62302" Q14344 7791744 MGI:95768 RGD:1310221 604406 HGNC:4381 "ENST00000439174.7|NM_006572.6" +HGNC:4380 GNA12 G protein subunit alpha 12 protein-coding gene gene with protein product Approved 7p22.3-p22.2 07p22.3-p22.2 gep guanine nucleotide binding protein (G protein) alpha 12 1993-07-26 2016-03-03 2023-01-20 2768 ENSG00000146535 OTTHUMG00000023064 uc003smu.5 L01694 NM_007353 "CCDS64583|CCDS64584|CCDS5335" Q03113 "8423800|16247467" MGI:95767 RGD:71018 604394 HGNC:4380 "ENST00000275364.8|NM_007353.3" +HGNC:4381 GNA13 G protein subunit alpha 13 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 "G13|MGC46138" guanine nucleotide binding protein (G protein), alpha 13 1999-07-14 2016-03-03 2023-01-20 10672 ENSG00000120063 OTTHUMG00000179316 uc002jfc.4 L22075 NM_006572 "CCDS62302|CCDS11661" Q14344 7791744 MGI:95768 RGD:1310221 604406 HGNC:4381 "ENST00000439174.7|NM_006572.6" HGNC:54705 GNA13P1 GNA13 pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2019-12-05 2019-12-05 100422337 ENSG00000230237 NG_023575 HGNC:4382 GNA14 G protein subunit alpha 14 protein-coding gene gene with protein product Approved 9q21.2 09q21.2 guanine nucleotide binding protein (G protein), alpha 14 G protein subunits alpha, group q 1427 1999-06-10 2016-03-03 2023-01-20 9630 ENSG00000156049 OTTHUMG00000020058 uc004aku.4 AF105201 NM_004297 CCDS6657 O95837 "10191087|17620339" MGI:95769 RGD:1308122 604397 477268 HGNC:4382 "ENST00000341700.7|NM_004297.4" HGNC:50451 GNA14-AS1 GNA14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.2 09q21.2 Antisense RNAs 1987 2014-04-30 2014-04-30 101927422 ENSG00000231373 OTTHUMG00000020056 BI830360 NR_121184 GNA14-AS1 HGNC:50451 HGNC:4383 GNA15 G protein subunit alpha 15 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 GNA16 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) G protein subunits alpha, group q 1427 1992-12-04 2016-03-03 2023-01-20 2769 ENSG00000060558 OTTHUMG00000180637 uc002lxf.3 NM_002068 CCDS12104 P30679 1302014 MGI:95770 RGD:619751 139314 HGNC:4383 "ENST00000262958.4|NM_002068.4" HGNC:55293 GNA15-DT GNA15 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Divergent transcripts 1990 2020-10-14 2020-10-14 100996351 ENSG00000267551 NR_110670 HGNC:4384 GNAI1 G protein subunit alpha i1 protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "Gi1 protein alpha subunit|Guanine nucleotide-binding protein G(i) subunit alpha-1" guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 G protein subunits alpha, group i 1428 1988-05-11 2016-03-03 2023-01-20 2770 ENSG00000127955 OTTHUMG00000023523 uc003uhb.2 AL049933 NM_002069 "CCDS5595|CCDS59061" P63096 3110783 MGI:95771 RGD:2713 139310 HGNC:4384 "ENST00000649796.2|NM_002069.6" HGNC:4384 -HGNC:4385 GNAI2 G protein subunit alpha i2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 GIP GTP-binding regulatory protein Gi alpha-2 chain GNAI2B guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 "G protein subunits alpha, group i|MicroRNA protein coding host genes" "1428|1691" 1986-01-01 2016-03-03 2023-01-20 2771 ENSG00000114353 OTTHUMG00000156940 uc003cyq.3 X04828 NM_002070 "CCDS2813|CCDS63642|CCDS54587|CCDS63644" P04899 "3100330|1733849" MGI:95772 RGD:620243 139360 HGNC:4385 "ENST00000313601.11|NM_002070.4" HGNC:4385 +HGNC:4385 GNAI2 G protein subunit alpha i2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 GIP GTP-binding regulatory protein Gi alpha-2 chain GNAI2B guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 "G protein subunits alpha, group i|MicroRNA protein coding host genes" "1428|1691" 1986-01-01 2016-03-03 2023-01-20 2771 ENSG00000114353 OTTHUMG00000156940 uc003cyq.3 X04828 NM_002070 "CCDS63642|CCDS63644|CCDS54587|CCDS2813" P04899 "3100330|1733849" MGI:95772 RGD:620243 139360 HGNC:4385 "ENST00000313601.11|NM_002070.4" HGNC:4385 HGNC:4386 GNAI2P1 G protein subunit alpha i2 pseudogene 1 pseudogene pseudogene Approved 12p13.1 12p13.1 "GNAI2A|GNAI2L" "guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2-like|guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1" 1988-05-11 2010-08-27 2016-03-03 2016-03-03 2772 ENSG00000255749 OTTHUMG00000168655 NG_027930 1733849 139180 PGOHUM00000239685 HGNC:4386 HGNC:45110 GNAI2P2 G protein subunit alpha i2 pseudogene 2 pseudogene pseudogene Approved 10q22.3 10q22.3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 2 2013-02-15 2016-03-03 2016-03-03 401646 ENSG00000231957 OTTHUMG00000018597 NG_030117 PGOHUM00000238547 HGNC:45110 HGNC:4387 GNAI3 G protein subunit alpha i3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 87U6 Guanine nucleotide-binding protein G(k) subunit alpha guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 G protein subunits alpha, group i 1428 2001-06-22 2016-03-03 2023-01-20 2773 ENSG00000065135 OTTHUMG00000189112 uc001dxz.4 M27543 NM_006496 CCDS802 P08754 3109953 MGI:95773 RGD:2714 139370 302920 HGNC:4387 "ENST00000369851.7|NM_006496.4" HGNC:4387 -HGNC:4388 GNAL G protein subunit alpha L protein-coding gene gene with protein product Approved 18p11.21 18p11.21 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type G protein subunits alpha, group s 1426 1992-07-20 2016-03-03 2023-01-20 2774 ENSG00000141404 OTTHUMG00000131660 uc010dkz.4 AF493893 "NM_182978|NM_002071" "CCDS11851|CCDS11852|CCDS58614" P38405 1302014 MGI:95774 RGD:2715 139312 331747 HGNC:4388 "ENST00000334049.11|NM_182978.4" HGNC:4388 +HGNC:4388 GNAL G protein subunit alpha L protein-coding gene gene with protein product Approved 18p11.21 18p11.21 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type G protein subunits alpha, group s 1426 1992-07-20 2016-03-03 2023-01-20 2774 ENSG00000141404 OTTHUMG00000131660 uc010dkz.4 AF493893 "NM_182978|NM_002071" "CCDS58614|CCDS11852|CCDS11851" P38405 1302014 MGI:95774 RGD:2715 139312 331747 HGNC:4388 "ENST00000334049.11|NM_182978.4" HGNC:4388 HGNC:4389 GNAO1 G protein subunit alpha o1 protein-coding gene gene with protein product Approved 16q13 16q13 G-ALPHA-o guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O "G protein subunits alpha, group i|MicroRNA protein coding host genes" "1428|1691" 1988-04-24 2016-03-03 2023-01-20 2775 ENSG00000087258 OTTHUMG00000133241 uc002eiu.5 NM_020988 "CCDS10757|CCDS10756" P09471 "1899283|11395521" MGI:95775 RGD:628732 139311 363440 HGNC:4389 "ENST00000262493.12|NM_020988.3" HGNC:4389 HGNC:24498 GNAO1-AS1 GNAO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q13 16q13 Antisense RNAs 1987 2020-11-11 2020-11-11 26077 ENSG00000261439 NR_026889 HGNC:27543 GNAO1-DT GNAO1 divergent transcript non-coding RNA RNA, long non-coding Approved 16q13 16q13 Divergent transcripts 1990 2021-04-29 2021-04-29 283856 ENSG00000246379 OTTHUMG00000176719 NR_027078 12477932 HGNC:4390 GNAQ G protein subunit alpha q protein-coding gene gene with protein product Approved 9q21.2 09q21.2 "G-ALPHA-q|GAQ" guanine nucleotide binding protein (G protein), q polypeptide G protein subunits alpha, group q 1427 1992-12-15 2016-03-03 2023-01-20 2776 ENSG00000156052 OTTHUMG00000020059 uc004akw.5 NM_002072 CCDS6658 P50148 8825633 MGI:95776 RGD:620770 LRG_1110|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1110.xml GNAQ 600998 353497 objectId:2914 HGNC:4390 "ENST00000286548.9|NM_002072.5" HGNC:4391 GNAQP1 G protein subunit alpha q pseudogene 1 pseudogene pseudogene Approved 2q21.1 02q21.1 GNAQP "quanine nucleotide binding protein (G protein), q polypeptide pseudogene|guanine nucleotide binding protein (G protein), q polypeptide pseudogene|guanine nucleotide binding protein (G protein), q polypeptide pseudogene 1" 1996-06-18 2010-03-17 2016-03-03 2016-03-03 2777 ENSG00000214077 OTTHUMG00000153563 U40037 NG_000862 8825633 PGOHUM00000240327 HGNC:4391 -HGNC:4392 GNAS GNAS complex locus protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "NESP55|NESP|GNASXL|GPSA|SCG6|SgVI" "secretogranin VI|G protein subunit alpha S" GNAS1 guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 "Granins|G protein subunits alpha, group s" "925|1426" 1990-06-29 2001-12-20 2001-12-19 2023-01-20 2778 ENSG00000087460 OTTHUMG00000033069 uc061ybx.1 M21142 NM_000516 "CCDS42892|CCDS82633|CCDS13471|CCDS93063|CCDS46622|CCDS93068|CCDS93066|CCDS46624|CCDS13472|CCDS46623" "O95467|P63092|P84996|Q5JWF2" MGI:95777 RGD:2716 LOVD - Leiden Open Variation Database|http://www.LOVD.nl/GNAS GNAS 139320 122194 HGNC:4392 "ENST00000371085.8|NM_000516.7" HGNC:4392 +HGNC:4392 GNAS GNAS complex locus protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "NESP55|NESP|GNASXL|GPSA|SCG6|SgVI" "secretogranin VI|G protein subunit alpha S" GNAS1 guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 "Granins|G protein subunits alpha, group s" "925|1426" 1990-06-29 2001-12-20 2001-12-19 2023-01-20 2778 ENSG00000087460 OTTHUMG00000033069 uc061ybx.1 M21142 NM_000516 "CCDS46624|CCDS82633|CCDS13472|CCDS46623|CCDS42892|CCDS46622|CCDS93063|CCDS93068|CCDS13471|CCDS93066" "O95467|P63092|P84996|Q5JWF2" MGI:95777 RGD:2716 LOVD - Leiden Open Variation Database|http://www.LOVD.nl/GNAS GNAS 139320 122194 HGNC:4392 "ENST00000371085.8|NM_000516.7" HGNC:4392 HGNC:24872 GNAS-AS1 GNAS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.32 20q13.32 "SANG|NESP-AS|NESPAS|GNAS1AS|NCRNA00075" "GNAS antisense|non-protein coding RNA 75" "GNASAS|GNAS-AS" "GNAS antisense RNA (non-protein coding)|GNAS antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-06-20 2010-11-25 2012-08-15 2021-04-13 149775 ENSG00000235590 OTTHUMG00000060481 uc002xzs.3 AJ251759 NR_002785 10749992 MGI:1861674 LRG_1051|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1051.xml 610540 nespas GNAS-AS1 HGNC:24872 HGNC:4393 GNAT1 G protein subunit alpha transducin 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 CSNBAD3 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 G protein subunits alpha, group i 1428 1986-01-01 2016-03-03 2023-01-20 2779 ENSG00000114349 OTTHUMG00000156808 uc003cym.3 NM_000172 CCDS2812 P11488 MGI:95778 RGD:1304683 139330 122202 HGNC:4393 "ENST00000232461.8|NM_144499.3" HGNC:4393 HGNC:4394 GNAT2 G protein subunit alpha transducin 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 ACHM4 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 G protein subunits alpha, group i 1428 1986-01-01 2016-03-03 2023-01-20 2780 ENSG00000134183 OTTHUMG00000011639 uc001dya.4 BC000233 NM_005272 CCDS803 P19087 8406495 MGI:95779 RGD:1309514 Mutations of the Transducin Subunits|http://www.retina-international.org/files/sci-news/gntmut.htm 139340 122204 HGNC:4394 "ENST00000679935.1|NM_001377295.2" HGNC:4394 @@ -10422,8 +10423,8 @@ HGNC:4397 GNB1L G protein subunit beta 1 like protein-coding gene gene with prot HGNC:4398 GNB2 G protein subunit beta 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "G protein, beta-2 subunit|guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2|signal-transducing guanine nucleotide-binding regulatory protein beta subunit|transducin beta chain 2" guanine nucleotide binding protein (G protein), beta polypeptide 2 "WD repeat domain containing|G protein subunits beta" "362|1430" 1988-05-20 2016-03-03 2023-01-20 2783 ENSG00000172354 OTTHUMG00000137419 uc003uwb.4 M16514 NM_005273 CCDS5703 P62879 9799793 MGI:95784 RGD:69319 139390 HGNC:4398 "ENST00000303210.9|NM_005273.4" HGNC:4400 GNB3 G protein subunit beta 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "transducin beta chain 3|Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3" guanine nucleotide binding protein (G protein), beta polypeptide 3 "WD repeat domain containing|G protein subunits beta" "362|1430" 1989-05-30 2016-03-03 2023-01-20 2784 ENSG00000111664 OTTHUMG00000168517 uc001qrd.3 NM_002075 "CCDS8564|CCDS73427" P16520 "11770079|16600389" MGI:95785 RGD:708344 139130 HGNC:4400 "ENST00000229264.8|NM_002075.4" HGNC:4400 HGNC:20731 GNB4 G protein subunit beta 4 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "transducin beta chain 4|Guanine nucleotide-binding protein subunit beta-4" guanine nucleotide binding protein (G protein), beta polypeptide 4 "WD repeat domain containing|G protein subunits beta" "362|1430" 2003-03-27 2016-03-03 2023-01-20 59345 ENSG00000114450 OTTHUMG00000157440 uc003fjv.5 AF300648 NM_021629 CCDS3230 Q9HAV0 "10644457|11842130" MGI:104581 RGD:1359321 610863 356169 HGNC:20731 "ENST00000232564.8|NM_021629.4" HGNC:20731 -HGNC:4401 GNB5 G protein subunit beta 5 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 GB5 "Guanine nucleotide-binding protein subunit beta-5|Transducin beta chain 5" guanine nucleotide binding protein (G protein), beta 5 "WD repeat domain containing|G protein subunits beta" "362|1430" 1999-07-14 2016-03-03 2023-01-20 10681 ENSG00000069966 OTTHUMG00000131892 uc002abt.2 AF017656 NM_001379343 "CCDS45261|CCDS10149" O14775 9606987 MGI:101848 RGD:620759 604447 HGNC:4401 "ENST00000261837.12|NM_016194.4" HGNC:4401 -HGNC:23657 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Uae1 bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase IBM2 UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase 2003-11-28 2003-12-01 2023-01-20 10020 ENSG00000159921 OTTHUMG00000019899 uc010mlh.5 AF051852 NM_005476 "CCDS55308|CCDS47965|CCDS55309|CCDS6602|CCDS55310" Q9Y223 "9305887|9305888" MGI:1354951 RGD:69239 LRG_1197|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1197.xml 603824 122207 "2.7.1.60|3.2.1.183|5.1.3.14" HGNC:23657 "ENST00000642385.2|NM_005476.7" HGNC:23657 +HGNC:4401 GNB5 G protein subunit beta 5 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 GB5 "Guanine nucleotide-binding protein subunit beta-5|Transducin beta chain 5" guanine nucleotide binding protein (G protein), beta 5 "WD repeat domain containing|G protein subunits beta" "362|1430" 1999-07-14 2016-03-03 2023-01-20 10681 ENSG00000069966 OTTHUMG00000131892 uc002abt.2 AF017656 NM_001379343 "CCDS10149|CCDS45261" O14775 9606987 MGI:101848 RGD:620759 604447 HGNC:4401 "ENST00000261837.12|NM_016194.4" HGNC:4401 +HGNC:23657 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Uae1 bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase IBM2 UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase 2003-11-28 2003-12-01 2023-01-20 10020 ENSG00000159921 OTTHUMG00000019899 uc010mlh.5 AF051852 NM_005476 "CCDS55308|CCDS55310|CCDS47965|CCDS6602|CCDS55309" Q9Y223 "9305887|9305888" MGI:1354951 RGD:69239 LRG_1197|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1197.xml 603824 122207 "2.7.1.60|3.2.1.183|5.1.3.14" HGNC:23657 "ENST00000642385.2|NM_005476.7" HGNC:23657 HGNC:4404 GNG2 G protein subunit gamma 2 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 guanine nucleotide binding protein (G protein), gamma 2 G protein subunits gamma 1432 2000-07-31 2016-03-03 2023-01-20 54331 ENSG00000186469 OTTHUMG00000171083 uc059bmt.1 AK001024 NM_001243773 CCDS32082 P59768 10833460 MGI:102705 RGD:69268 606981 HGNC:4404 "ENST00000556766.6|NM_053064.5" HGNC:4405 GNG3 G protein subunit gamma 3 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "guanine nucleotide-binding protein gamma-3 subunit|NBP gamma-3" guanine nucleotide binding protein (G protein), gamma 3 G protein subunits gamma 1432 1994-11-08 2016-03-03 2023-01-20 2785 ENSG00000162188 OTTHUMG00000167560 uc001nuv.5 AF075042 NM_012202 CCDS8032 P63215 10644457 MGI:102704 RGD:620805 608941 HGNC:4405 "ENST00000294117.6|NM_012202.5" HGNC:4407 GNG4 G protein subunit gamma 4 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 guanine nucleotide binding protein (G protein), gamma 4 G protein subunits gamma 1432 1995-11-21 2016-03-03 2023-01-20 2786 ENSG00000168243 OTTHUMG00000040740 uc009xfz.4 BC022485 NM_004485 CCDS1607 P50150 7665596 MGI:102703 RGD:620806 604388 HGNC:4407 "ENST00000391854.7|NM_001098722.2" @@ -10450,23 +10451,23 @@ HGNC:50779 GNL2P1 G protein nucleolar 2 pseudogene 1 pseudogene pseudogene Appro HGNC:29931 GNL3 G protein nucleolar 3 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "C77032|E2IG3|MGC800|NS" nucleostemin guanine nucleotide binding protein-like 3 (nucleolar) Small nucleolar RNA protein coding host genes 1835 2005-01-10 2016-03-03 2023-01-20 26354 ENSG00000163938 OTTHUMG00000158752 uc003dfd.4 AK027514 NM_014366 "CCDS43100|CCDS2861" Q9BVP2 "11085516|12464630" MGI:1353651 RGD:631354 608011 HGNC:29931 "ENST00000418458.6|NM_014366.5" HGNC:25553 GNL3L G protein nucleolar 3 like protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "FLJ10613|GNL3B" G protein nucleolar 3B guanine nucleotide binding protein-like 3 (nucleolar)-like 2005-01-10 2016-03-03 2023-01-20 54552 ENSG00000130119 OTTHUMG00000021629 uc004dth.3 AK001475 NM_019067 CCDS14360 Q9NVN8 "16251348|19487455" MGI:2448557 RGD:1600217 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GNL3L 300873 HGNC:25553 "ENST00000360845.3|NM_001184819.2" HGNC:25733 GNL3LP1 G protein nucleolar 3 like pseudogene 1 pseudogene pseudogene Approved 5q12.1 05q12.1 FLJ12595 GNL3LP guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 2008-12-19 2010-03-17 2016-03-03 2016-03-03 80060 ENSG00000215032 OTTHUMG00000153832 AK022657 NG_005649 PGOHUM00000235235 HGNC:25733 -HGNC:4414 GNLY granulysin protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "NKG5|LAG-2|D2S69E|TLA519" T-lymphocyte activation gene 519 LAG2 1999-11-22 2023-01-20 10578 ENSG00000115523 OTTHUMG00000130179 uc002sql.5 X54101 NM_006433 "CCDS77430|CCDS1984|CCDS46354" P22749 "2212946|2434598" 188855 HGNC:4414 "ENST00000263863.9|NM_006433.5" +HGNC:4414 GNLY granulysin protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "NKG5|LAG-2|D2S69E|TLA519" T-lymphocyte activation gene 519 LAG2 1999-11-22 2023-01-20 10578 ENSG00000115523 OTTHUMG00000130179 uc002sql.5 X54101 NM_006433 "CCDS1984|CCDS46354|CCDS77430" P22749 "2212946|2434598" 188855 HGNC:4414 "ENST00000263863.9|NM_006433.5" HGNC:4415 GNMT glycine N-methyltransferase protein-coding gene gene with protein product Approved 6p21.1 06p21.1 7BS small molecule methyltransferases 2063 2000-01-21 2023-01-20 27232 ENSG00000124713 OTTHUMG00000014712 uc003otd.4 AF101475 NM_018960 CCDS4876 Q14749 "10843803|9495250" MGI:1202304 RGD:2719 606628 289897 HGNC:4415 "ENST00000372808.4|NM_018960.6" HGNC:4415 HGNC:4416 GNPAT glyceronephosphate O-acyltransferase protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "DHAPAT|DAPAT|DAP-AT" "glycerone-phosphate O-acyltransferase|dihydroxyacetone phosphate acyltransferase" 1998-10-29 2023-01-20 8443 ENSG00000116906 OTTHUMG00000038024 uc001hup.5 AF043937 NM_001316350 CCDS1592 O15228 "9459311|9536089" MGI:1343460 RGD:620179 602744 122211 2.3.1.42 HGNC:4416 "ENST00000366647.9|NM_014236.4" HGNC:4416 HGNC:34031 GNPATP glyceronephosphate O-acyltransferase pseudogene pseudogene pseudogene Approved 16q21 16q21 2008-03-20 2020-04-20 100130060 ENSG00000259844 OTTHUMG00000173087 NG_007472 PGOHUM00000293623 HGNC:34031 HGNC:4417 GNPDA1 glucosamine-6-phosphate deaminase 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "GNPDA|HLN|GPI|KIAA0060" "glucosamine-6-phosphate deaminase|oscillin" GNPI glucosamine-6-phosphate isomerase 1999-09-09 2003-10-22 2003-10-17 2023-01-20 10007 ENSG00000113552 OTTHUMG00000129657 uc010jgh.4 AF048826 NM_005471 CCDS4272 P46926 "9714720|9438414" MGI:1347054 RGD:1585624 601798 3.5.99.6 HGNC:4417 "ENST00000311337.11|NM_005471.5" -HGNC:21526 GNPDA2 glucosamine-6-phosphate deaminase 2 protein-coding gene gene with protein product Approved 4p12 04p12 SB52 glucosamine-6-phosphate isomerase 2003-10-17 2023-01-20 132789 ENSG00000163281 OTTHUMG00000099415 uc003gwy.5 AF247786 NM_138335 "CCDS3469|CCDS59473|CCDS59472" Q8TDQ7 12965206 MGI:1915230 RGD:1305521 613222 3.5.99.6 HGNC:21526 "ENST00000295448.8|NM_138335.3" +HGNC:21526 GNPDA2 glucosamine-6-phosphate deaminase 2 protein-coding gene gene with protein product Approved 4p12 04p12 SB52 glucosamine-6-phosphate isomerase 2003-10-17 2023-01-20 132789 ENSG00000163281 OTTHUMG00000099415 uc003gwy.5 AF247786 NM_138335 "CCDS3469|CCDS59472|CCDS59473" Q8TDQ7 12965206 MGI:1915230 RGD:1305521 613222 3.5.99.6 HGNC:21526 "ENST00000295448.8|NM_138335.3" HGNC:19980 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "Gpnat1|FLJ10607" GCN5 related N-acetyltransferases 1134 2002-12-13 2023-01-20 64841 ENSG00000100522 OTTHUMG00000152334 uc001xab.4 AK001469 NM_198066 Q96EK6 MGI:1858963 RGD:1563144 616510 2.3.1.4 HGNC:19980 "ENST00000216410.8|NM_198066.4" HGNC:19980 HGNC:29670 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "KIAA1208|MGC4170" GNPTA N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits EF-hand domain containing 863 2005-09-11 2018-04-23 2023-01-20 79158 ENSG00000111670 OTTHUMG00000170444 uc001tit.4 AY687932 NM_024312 CCDS9088 Q3T906 "10574462|16116615" MGI:3643902 RGD:1564821 607840 122216 HGNC:29670 "ENST00000299314.12|NM_024312.5" HGNC:29670 HGNC:23026 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CAB56184|c316G12.3" GlcNAc-phosphotransferase gamma-subunit "GNPTAG|C16orf27" "N-acetylglucosamine-1-phosphotransferase, gamma subunit|chromosome 16 open reading frame 27" MRH domain containing 1233 2004-02-16 2004-10-01 2018-04-23 2023-01-20 84572 ENSG00000090581 OTTHUMG00000047835 uc002clm.4 BC014592 NM_032520 CCDS10436 Q9UJJ9 10712439 MGI:2147006 RGD:1311614 607838 122221 HGNC:23026 "ENST00000204679.9|NM_032520.5" HGNC:23026 HGNC:4419 GNRH1 gonadotropin releasing hormone 1 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 progonadoliberin-1 "GRH|GNRH|LHRH" leuteinizing-releasing hormone Neuropeptides 1902 1993-12-15 2015-11-13 2023-01-20 2796 ENSG00000147437 OTTHUMG00000163852 uc064lhq.1 X01059 NM_001083111 CCDS43725 P01148 6090951 MGI:95789 RGD:2720 152760 159628 ligandId:1162 HGNC:4419 "ENST00000421054.7|NM_001083111.2" HGNC:4419 -HGNC:4420 GNRH2 gonadotropin releasing hormone 2 protein-coding gene gene with protein product Approved 20p13 20p13 progonadoliberin-2 gonadotropin-releasing hormone 2 Neuropeptides 1902 1998-01-20 2015-11-13 2023-01-20 2797 ENSG00000125787 OTTHUMG00000031723 uc002whr.2 AF036329 NM_001501 "CCDS13042|CCDS13040|CCDS13041" O43555 "9419371|12447356" 602352 470384 ligandId:1164 HGNC:4420 "ENST00000359100.6|NM_178331.2" +HGNC:4420 GNRH2 gonadotropin releasing hormone 2 protein-coding gene gene with protein product Approved 20p13 20p13 progonadoliberin-2 gonadotropin-releasing hormone 2 Neuropeptides 1902 1998-01-20 2015-11-13 2023-01-20 2797 ENSG00000125787 OTTHUMG00000031723 uc002whr.2 AF036329 NM_001501 "CCDS13040|CCDS13042|CCDS13041" O43555 "9419371|12447356" 602352 470384 ligandId:1164 HGNC:4420 "ENST00000359100.6|NM_178331.2" HGNC:4421 GNRHR gonadotropin releasing hormone receptor protein-coding gene gene with protein product Approved 4q13.2 04q13.2 LHRHR GRHR gonadotropin-releasing hormone receptor Gonadotropin releasing hormone receptors 227 1994-01-15 2015-11-13 2023-01-20 2798 ENSG00000109163 OTTHUMG00000129302 uc003hdn.4 NM_000406 "CCDS3517|CCDS47064" P30968 8386108 MGI:95790 RGD:70513 138850 122226 objectId:256 HGNC:4421 "ENST00000226413.5|NM_000406.3" HGNC:4421 HGNC:16341 GNRHR2 gonadotropin releasing hormone receptor 2 (pseudogene) pseudogene pseudogene Approved 1q21.1 01q21.1 gonadotropin-releasing hormone (type 2) receptor 2 Gonadotropin releasing hormone receptors 227 2001-09-26 2016-01-06 2022-12-08 114814 ENSG00000211451 OTTHUMG00000013742 AF403014 NR_002328 Q96P88 11707068 612875 objectId:257 HGNC:16341 HGNC:39424 GNRHR2P1 GNRHR2 pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 gonadotropin-releasing hormone (type 2) receptor 2 pseudogene 1 2010-12-08 2015-11-13 2015-11-13 404718 ENSG00000259169 OTTHUMG00000171185 NG_003256 "11707068|11013075" PGOHUM00000264432 HGNC:39424 HGNC:4422 GNS glucosamine (N-acetyl)-6-sulfatase protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "Sanfilippo disease IIID|N-acetylglucosamine-6-sulfatase" Sulfatases 410 1988-06-09 2008-08-01 2023-01-20 2799 ENSG00000135677 OTTHUMG00000168819 uc001ssg.5 NM_002076 CCDS8970 P15586 MGI:1922862 RGD:1305877 607664 122230 3.1.6.14 HGNC:4422 "ENST00000258145.8|NM_002076.4" HGNC:4422 HGNC:4424 GOLGA1 golgin A1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "golgin-97|MGC33154" golgi autoantigen, golgin subfamily a, 1 Golgins 1084 1997-11-05 2010-02-12 2023-01-20 2800 ENSG00000136935 OTTHUMG00000020665 uc004bpc.4 U51587 NM_002077 CCDS6860 Q92805 9324025 MGI:1924149 RGD:1311305 602502 HGNC:4424 "ENST00000373555.9|NM_002077.4" -HGNC:4425 GOLGA2 golgin A2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "GM130|golgin-95" "Golgi matrix protein GM130|SY11 protein" golgi autoantigen, golgin subfamily a, 2 Golgins 1084 1997-11-05 2010-02-12 2023-01-20 2801 ENSG00000167110 OTTHUMG00000020732 uc011maw.2 L06147 NM_004486 "CCDS6896|CCDS94494|CCDS94495|CCDS94493|CCDS94492" Q08379 8315394 MGI:2139395 RGD:620282 602580 HGNC:4425 "ENST00000611957.5|NM_001366244.2" +HGNC:4425 GOLGA2 golgin A2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "GM130|golgin-95" "Golgi matrix protein GM130|SY11 protein" golgi autoantigen, golgin subfamily a, 2 Golgins 1084 1997-11-05 2010-02-12 2023-01-20 2801 ENSG00000167110 OTTHUMG00000020732 uc011maw.2 L06147 NM_004486 "CCDS94495|CCDS6896|CCDS94493|CCDS94492|CCDS94494" Q08379 8315394 MGI:2139395 RGD:620282 602580 HGNC:4425 "ENST00000611957.5|NM_001366244.2" HGNC:31052 GOLGA2P1 GOLGA2 pseudogene 1 pseudogene pseudogene Approved 8q21.3 08q21.3 golgin A2 pseudogene 1 2004-04-30 2018-04-26 2020-04-20 100418751 ENSG00000205333 OTTHUMG00000160480 NG_016980 PGOHUM00000260414 HGNC:31052 HGNC:16479 GOLGA2P2Y GOLGA2 pseudogene 2 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "GOLGA2LY1|GOLGA2P2" "golgi autoantigen, golgin subfamily a, 2-like, Y-linked|golgin A2 pseudogene 2|golgin A2 pseudogene 2, Y-linked" 2001-09-21 2010-06-28 2018-04-26 2018-04-26 84559 ENSG00000239533 OTTHUMG00000045074 AF332229 NR_001555 400035 PGOHUM00000263346 HGNC:16479 HGNC:32426 GOLGA2P3Y GOLGA2 pseudogene 3 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "GOLGA2LY2|GOLGA2P3" "golgi autoantigen, golgin subfamily a, 2-like, Y-linked 2|golgin A2 pseudogene 3|golgin A2 pseudogene 3, Y-linked" 2005-12-16 2010-06-28 2018-04-26 2018-04-26 401634 ENSG00000172297 OTTHUMG00000045281 NR_002195 PGOHUM00000263353 HGNC:32426 @@ -10478,8 +10479,8 @@ HGNC:49922 GOLGA2P8 GOLGA2 pseudogene 8 pseudogene pseudogene Approved 15q26.1 1 HGNC:49921 GOLGA2P9 GOLGA2 pseudogene 9 pseudogene pseudogene Approved 19p12 19p12 golgin A2 pseudogene 9 2014-03-21 2018-04-26 2018-04-26 440518 ENSG00000269332 OTTHUMG00000182981 NR_033899 PGOHUM00000263015 HGNC:49921 HGNC:26229 GOLGA2P10 GOLGA2 pseudogene 10 pseudogene pseudogene Approved 15q25.2 15q25.2 "FLJ22795|AgSK1" antigen SK1, colon cancer-associated golgin A2 pseudogene 10 2014-07-23 2018-04-26 2018-04-26 80154 ENSG00000255769 OTTHUMG00000170549 NR_026811 10746788 HGNC:26229 HGNC:26788 GOLGA2P11 GOLGA2 pseudogene 11 pseudogene pseudogene Approved 15q22.2 15q22.2 FLJ38723 golgin A2 pseudogene 11 2014-07-23 2018-04-26 2018-04-26 255180 ENSG00000260062 OTTHUMG00000173103 NR_136885 PGOHUM00000262905 HGNC:26788 -HGNC:4426 GOLGA3 golgin A3 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "golgin-160|GCP170|MEA-2" "SY2/SY10 protein|Golgi complex-associated protein of 170 kD" golgi autoantigen, golgin subfamily a, 3 Golgins 1084 1997-11-05 2010-02-12 2023-01-20 2802 ENSG00000090615 OTTHUMG00000168023 uc001ukz.1 AF485338 NM_005895 "CCDS9281|CCDS91785|CCDS53846" Q08378 "8315394|15829563" MGI:96958 RGD:1305262 602581 HGNC:4426 "ENST00000450791.8|NM_001389683.1" -HGNC:4427 GOLGA4 golgin A4 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "GOLG|GCP2|p230|golgin-240" golgin 245 golgi autoantigen, golgin subfamily a, 4 Golgins 1084 1997-11-05 2010-02-12 2023-01-20 2803 ENSG00000144674 OTTHUMG00000130799 uc003cgv.4 U31906 NM_002078 "CCDS93242|CCDS54564|CCDS2666" Q13439 8626529 MGI:1859646 RGD:1591925 602509 HGNC:4427 "ENST00000361924.7|NM_002078.5" +HGNC:4426 GOLGA3 golgin A3 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "golgin-160|GCP170|MEA-2" "SY2/SY10 protein|Golgi complex-associated protein of 170 kD" golgi autoantigen, golgin subfamily a, 3 Golgins 1084 1997-11-05 2010-02-12 2023-01-20 2802 ENSG00000090615 OTTHUMG00000168023 uc001ukz.1 AF485338 NM_005895 "CCDS53846|CCDS9281|CCDS91785" Q08378 "8315394|15829563" MGI:96958 RGD:1305262 602581 HGNC:4426 "ENST00000450791.8|NM_001389683.1" +HGNC:4427 GOLGA4 golgin A4 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "GOLG|GCP2|p230|golgin-240" golgin 245 golgi autoantigen, golgin subfamily a, 4 Golgins 1084 1997-11-05 2010-02-12 2023-01-20 2803 ENSG00000144674 OTTHUMG00000130799 uc003cgv.4 U31906 NM_002078 "CCDS2666|CCDS93242|CCDS54564" Q13439 8626529 MGI:1859646 RGD:1591925 602509 HGNC:4427 "ENST00000361924.7|NM_002078.5" HGNC:26469 GOLGA4-AS1 GOLGA4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.2 03p22.2 Antisense RNAs 1987 2020-09-29 2020-09-29 152048 ENSG00000270194 NR_149029 12477932 HGNC:18660 GOLGA4P1 golgin A4 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 GOLGA4 pseudogene 1 2003-03-25 2010-02-12 2020-04-20 192131 NG_001019 HGNC:18660 HGNC:20727 GOLGA4P2 golgin A4 pseudogene 2 pseudogene pseudogene Approved 14q32.33 14q32.33 GOLGA4 pseudogene 2 2003-09-30 2010-02-12 2020-04-20 192132 NG_001019 HGNC:20727 @@ -10517,7 +10518,7 @@ HGNC:56306 GOLGA6L26 golgin A6 family like 26 protein-coding gene gene with prot HGNC:24876 GOLGA7 golgin A7 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "GCP16|HSPC041|GOLGA3AP1|GOLGA7A" golgi autoantigen, golgin subfamily a, 7 2004-01-23 2010-02-12 2023-01-20 51125 ENSG00000147533 OTTHUMG00000164077 uc003xnu.4 AF125102 NM_016099 "CCDS34887|CCDS55226" Q7Z5G4 "14522980|16000296" MGI:1931029 RGD:1359725 609453 HGNC:24876 "ENST00000357743.9|NM_001002296.2" HGNC:31668 GOLGA7B golgin A7 family member B protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "bA459F3.4|bA451M19.3" "C10orf133|C10orf132" "chromosome 10 open reading frame 133|chromosome 10 open reading frame 132|golgi autoantigen, golgin subfamily a, 7B|golgin A7 family, member B" 2004-05-27 2008-10-03 2015-11-18 2023-01-20 401647 ENSG00000155265 OTTHUMG00000018869 uc001kos.4 BC008047 NM_001010917 CCDS31265 Q2TAP0 MGI:1918396 RGD:1583839 614189 HGNC:31668 "ENST00000370602.6|NM_001010917.3" HGNC:45232 GOLGA7B-DT GOLGA7B divergent transcript non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 LINC00866 long intergenic non-protein coding RNA 866 Divergent transcripts 1990 2013-03-07 2021-07-30 2021-07-30 2021-07-30 100505561 ENSG00000227356 OTTHUMG00000018868 uc031wqj.1 NR_108035 LINC00866 HGNC:45232 -HGNC:31972 GOLGA8A golgin A8 family member A protein-coding gene gene with protein product Approved 15q14 15q14 "GM88|GOLGIN-67|FAP286|CFAP286" "golgi autoantigen, golgin subfamily a, 8A|golgin A8 family, member A" "Cilia and flagella associated|MicroRNA protein coding host genes|Golgin related" "1491|1691|1856" 2005-08-26 2015-11-18 2023-03-15 23015 ENSG00000175265 OTTHUMG00000129447 uc001zii.4 BX648160 NM_181076 "CCDS10038|CCDS91979" A7E2F4 "10660574|10677249" 616180 HGNC:31972 "ENST00000359187.5|NM_181077.5" +HGNC:31972 GOLGA8A golgin A8 family member A protein-coding gene gene with protein product Approved 15q14 15q14 "GM88|GOLGIN-67|FAP286|CFAP286" "golgi autoantigen, golgin subfamily a, 8A|golgin A8 family, member A" "Cilia and flagella associated|MicroRNA protein coding host genes|Golgin related" "1491|1691|1856" 2005-08-26 2015-11-18 2023-03-15 23015 ENSG00000175265 OTTHUMG00000129447 uc001zii.4 BX648160 NM_181076 "CCDS91979|CCDS10038" A7E2F4 "10660574|10677249" 616180 HGNC:31972 "ENST00000359187.5|NM_181077.5" HGNC:31973 GOLGA8B golgin A8 family member B protein-coding gene gene with protein product Approved 15q14 15q14 "golgi autoantigen, golgin subfamily a, 8B|golgin A8 family, member B" "MicroRNA protein coding host genes|Golgin related" "1691|1856" 2005-08-26 2015-11-18 2023-01-20 440270 ENSG00000215252 OTTHUMG00000129549 uc001ziq.4 AF164622 NM_001023567 CCDS45211 A8MQT2 609619 HGNC:31973 "ENST00000683415.1|NM_001023567.5" HGNC:32375 GOLGA8CP golgin A8 family member C, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 GOLGA8C "golgi autoantigen, golgin subfamily a, 8C|golgin A8 family, member C|golgin A8 family, member C, pseudogene" Golgin related 1856 2005-11-07 2012-10-05 2015-11-18 2015-11-18 729786 ENSG00000181984 OTTHUMG00000171665 NR_027411 A6NN73 12477932 PGOHUM00000261868 HGNC:32375 HGNC:32376 GOLGA8DP golgin A8 family member D, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 GOLGA8D "golgi autoantigen, golgin subfamily a, 8D|golgin A8 family, member D, pseudogene" Golgin related 1856 2005-11-07 2010-02-12 2015-11-18 2019-09-05 100132979 ENSG00000175676 OTTHUMG00000167132 NR_027407 Q0D2H9 12477932 PGOHUM00000262213 HGNC:32376 @@ -10537,25 +10538,25 @@ HGNC:44409 GOLGA8S golgin A8 family member S protein-coding gene gene with prote HGNC:44410 GOLGA8T golgin A8 family member T protein-coding gene gene with protein product Approved 15q13.2 15q13.2 golgin A8 family, member T Golgin related 1856 2012-10-05 2015-11-18 2023-01-20 653075 ENSG00000261247 OTTHUMG00000175638 uc059hav.1 NM_001355469 CCDS86440 H3BQL2 HGNC:44410 "ENST00000569052.2|NM_001355469.2" HGNC:44411 GOLGA8UP golgin A8 family member U, pseudogene pseudogene pseudogene Approved 15q13.2 15q13.2 golgin A8 family, member U, pseudogene Golgin related 1856 2012-10-05 2015-11-18 2015-11-18 100507067 ENSG00000103832 OTTHUMG00000165688 PGOHUM00000257990 HGNC:49920 GOLGA8VP golgin A8 family member V, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 golgin A8 family, member V, pseudogene Golgin related 1856 2014-03-21 2015-11-18 2015-11-18 441736 ENSG00000259236 OTTHUMG00000172266 NG_032743 PGOHUM00000261182 HGNC:49920 -HGNC:4429 GOLGB1 golgin B1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "GCP|GCP372|giantin|GOLIM1" "macrogolgin|golgi integral membrane protein 1" "golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1|golgin B1, golgi integral membrane protein" Golgins 1084 1997-11-05 2007-07-27 2010-02-12 2023-03-15 2804 ENSG00000173230 OTTHUMG00000159411 uc021xcy.3 X75304 NM_004487 "CCDS93347|CCDS93348|CCDS3004|CCDS58847" Q14789 "7691276|15004235" MGI:1099447 RGD:708429 602500 HGNC:4429 "ENST00000614479.5|NM_001366282.2" -HGNC:15448 GOLIM4 golgi integral membrane protein 4 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "GPP130|GIMPC|P138" GOLPH4 golgi phosphoprotein 4 2001-04-27 2007-07-30 2007-07-30 2023-01-20 27333 ENSG00000173905 OTTHUMG00000158554 uc003ffe.3 U55853 NM_001308155 "CCDS3204|CCDS77854" O00461 "9201717|15004235" MGI:1920374 RGD:1310948 606805 HGNC:15448 "ENST00000470487.6|NM_014498.5" +HGNC:4429 GOLGB1 golgin B1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "GCP|GCP372|giantin|GOLIM1" "macrogolgin|golgi integral membrane protein 1" "golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1|golgin B1, golgi integral membrane protein" Golgins 1084 1997-11-05 2007-07-27 2010-02-12 2023-03-15 2804 ENSG00000173230 OTTHUMG00000159411 uc021xcy.3 X75304 NM_004487 "CCDS58847|CCDS93348|CCDS3004|CCDS93347" Q14789 "7691276|15004235" MGI:1099447 RGD:708429 602500 HGNC:4429 "ENST00000614479.5|NM_001366282.2" +HGNC:15448 GOLIM4 golgi integral membrane protein 4 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "GPP130|GIMPC|P138" GOLPH4 golgi phosphoprotein 4 2001-04-27 2007-07-30 2007-07-30 2023-01-20 27333 ENSG00000173905 OTTHUMG00000158554 uc003ffe.3 U55853 NM_001308155 "CCDS77854|CCDS3204" O00461 "9201717|15004235" MGI:1920374 RGD:1310948 606805 HGNC:15448 "ENST00000470487.6|NM_014498.5" HGNC:15451 GOLM1 golgi membrane protein 1 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "GP73|FLJ23608|bA379P1.3" "GOLPH2|C9orf155" "golgi phosphoprotein 2|chromosome 9 open reading frame 155" 2001-04-27 2007-07-30 2007-07-30 2023-01-20 51280 ENSG00000135052 OTTHUMG00000020130 uc004aom.4 AF236056 NM_177937 CCDS35054 Q8NBJ4 "10831838|18953438|22542941" MGI:1917329 RGD:1589384 606804 HGNC:15451 "ENST00000388712.7|NM_016548.4" -HGNC:24892 GOLM2 golgi membrane protein 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "H63|DKFZp459F1927" CASC4 "cancer susceptibility candidate 4|cancer susceptibility 4" 2005-07-11 2020-01-10 2020-01-10 2023-01-20 113201 ENSG00000166734 OTTHUMG00000131133 uc001ztp.4 AF103804 NM_138423 "CCDS10108|CCDS10109" Q6P4E1 "10497265|26431027" MGI:2443129 RGD:1305985 HGNC:24892 "ENST00000299957.11|NM_138423.4" +HGNC:24892 GOLM2 golgi membrane protein 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "H63|DKFZp459F1927" CASC4 "cancer susceptibility candidate 4|cancer susceptibility 4" 2005-07-11 2020-01-10 2020-01-10 2023-01-20 113201 ENSG00000166734 OTTHUMG00000131133 uc001ztp.4 AF103804 NM_138423 "CCDS10109|CCDS10108" Q6P4E1 "10497265|26431027" MGI:2443129 RGD:1305985 HGNC:24892 "ENST00000299957.11|NM_138423.4" HGNC:39251 GOLM2P1 GOLM2 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 CASC4P1 "cancer susceptibility candidate 4 pseudogene 1|cancer susceptibility 4 pseudogene 1" 2010-11-24 2021-03-24 2021-03-24 2021-03-24 100420689 ENSG00000238132 OTTHUMG00000016496 NG_024833 PGOHUM00000248312 HGNC:39251 HGNC:15452 GOLPH3 golgi phosphoprotein 3 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "GPP34|GOPP1|MIDAS|Vps74" "golgi peripheral membrane protein 1, 34 kDa|golgi protein|coat-protein|golgi-associated protein" golgi phosphoprotein 3 (coat-protein) 2001-04-27 2016-01-21 2023-01-20 64083 ENSG00000113384 OTTHUMG00000090679 uc003jhp.2 AK075156 NM_022130 CCDS3896 Q9H4A6 "11042173|16263763" MGI:1913879 RGD:621226 612207 HGNC:15452 "ENST00000265070.7|NM_022130.4" HGNC:55231 GOLPH3-DT GOLPH3 divergent transcript non-coding RNA RNA, long non-coding Approved 5p13.3 05p13.3 Divergent transcripts 1990 2020-09-16 2020-09-16 118597838 ENSG00000272086 HGNC:24882 GOLPH3L golgi phosphoprotein 3 like protein-coding gene gene with protein product Approved 1q21.3 01q21.3 GPP34R golgi phosphoprotein 3-like 2004-11-16 2016-01-21 2023-01-20 55204 ENSG00000143457 OTTHUMG00000035009 uc001evj.3 AJ296153 NM_018178 CCDS966 Q9H4A5 MGI:1917129 RGD:1359281 612208 HGNC:24882 "ENST00000271732.8|NM_018178.6" HGNC:24766 GOLT1A golgi transport 1A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ42654|CGI-141|YMR292W|GOT1|MGC62027" golgi transport 1 homolog A (S. cerevisiae) 2005-02-07 2010-06-24 2023-01-20 127845 ENSG00000174567 OTTHUMG00000036056 uc001has.1 BC058832 NM_198447 CCDS1443 Q6ZVE7 26255816 MGI:1915588 RGD:1566310 470388 HGNC:24766 "ENST00000308302.4|NM_198447.2" HGNC:20175 GOLT1B golgi transport 1B protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "CGI-141|YMR292W|GOT1" golgi transport 1 homolog B (S. cerevisiae) 2005-02-07 2010-06-24 2023-01-20 51026 ENSG00000111711 OTTHUMG00000169133 uc001rez.3 AB097020 NM_016072 CCDS8689 Q9Y3E0 "12414650|10810093" MGI:1914214 RGD:1310691 615078 470390 HGNC:20175 "ENST00000229314.10|NM_016072.5" -HGNC:25973 GON4L gon-4 like protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ20203|GON-4|YARP" YY1AP related protein GON4 "gon-4 homolog (C.elegans)|gon-4-like (C. elegans)" Myb/SANT domain containing 532 2005-08-22 2006-02-16 2016-03-07 2023-01-20 54856 ENSG00000116580 OTTHUMG00000014106 uc057lsu.1 AB046826 NM_032292 "CCDS44242|CCDS1121|CCDS60296" Q3T8J9 "16545939|21454521" MGI:1917579 RGD:1564691 610393 HGNC:25973 "ENST00000368331.6|NM_001282860.2" +HGNC:25973 GON4L gon-4 like protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ20203|GON-4|YARP" YY1AP related protein GON4 "gon-4 homolog (C.elegans)|gon-4-like (C. elegans)" Myb/SANT domain containing 532 2005-08-22 2006-02-16 2016-03-07 2023-01-20 54856 ENSG00000116580 OTTHUMG00000014106 uc057lsu.1 AB046826 NM_032292 "CCDS44242|CCDS60296|CCDS1121" Q3T8J9 "16545939|21454521" MGI:1917579 RGD:1564691 610393 HGNC:25973 "ENST00000368331.6|NM_001282860.2" HGNC:20356 GON7 GON7 subunit of KEOPS complex protein-coding gene gene with protein product Approved 14q32.12 14q32.12 C14orf142 "chromosome 14 open reading frame 142|GON7, KEOPS complex subunit homolog|GON7, KEOPS complex subunit" KEOPS complex 1313 2003-01-28 2016-07-08 2019-01-25 2023-01-20 84520 ENSG00000170270 OTTHUMG00000171267 uc001ybl.2 AF277185 NM_032490 CCDS41981 Q9BXV9 "22912744|27903914" MGI:4845848 RGD:2302582 617436 HGNC:20356 "ENST00000306954.5|NM_032490.5" HGNC:17643 GOPC golgi associated PDZ and coiled-coil motif containing protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "dJ94G16.2|PIST|FIG|GOPC1|CAL" PDZ domain containing 1220 2003-08-29 2016-06-01 2023-01-20 57120 ENSG00000047932 OTTHUMG00000015457 uc003pxv.4 AF287894 NM_020399 "CCDS5117|CCDS34523" Q9HD26 "11162552|11520064" MGI:2149946 RGD:1309512 GOPC 606845 HGNC:17643 "ENST00000368498.7|NM_020399.4" HGNC:17643 -HGNC:25676 GORAB golgin, RAB6 interacting protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "FLJ11752|NTKL-BP1|GO" "gerodermia osteodysplastica|RAB6-interacting golgin" SCYL1BP1 "SCY1-like 1 binding protein 1|golgin, RAB6-interacting" 2005-05-19 2009-02-13 2016-04-06 2023-01-20 92344 ENSG00000120370 OTTHUMG00000035228 uc001gha.3 AK021814 NM_152281 "CCDS91103|CCDS1289|CCDS53428" Q5T7V8 "12783284|15781263|18997784" MGI:2138271 RGD:1564990 607983 169953 HGNC:25676 "ENST00000367763.8|NM_152281.3" HGNC:25676 +HGNC:25676 GORAB golgin, RAB6 interacting protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "FLJ11752|NTKL-BP1|GO" "gerodermia osteodysplastica|RAB6-interacting golgin" SCYL1BP1 "SCY1-like 1 binding protein 1|golgin, RAB6-interacting" 2005-05-19 2009-02-13 2016-04-06 2023-01-20 92344 ENSG00000120370 OTTHUMG00000035228 uc001gha.3 AK021814 NM_152281 "CCDS1289|CCDS53428|CCDS91103" Q5T7V8 "12783284|15781263|18997784" MGI:2138271 RGD:1564990 607983 169953 HGNC:25676 "ENST00000367763.8|NM_152281.3" HGNC:25676 HGNC:54051 GORAB-AS1 GORAB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q24.2 01q24.2 Antisense RNAs 1987 2018-09-26 2018-09-26 101928650 ENSG00000231407 NR_125958 HGNC:54051 -HGNC:16769 GORASP1 golgi reassembly stacking protein 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "GRASP65|P65|FLJ23443" GOLPH5 "golgi phosphoprotein 5|golgi reassembly stacking protein 1, 65kDa" PDZ domain containing 1220 2001-11-02 2002-05-24 2015-11-09 2023-01-20 64689 ENSG00000114745 OTTHUMG00000131292 uc003ciw.3 AJ409349 NM_031899 "CCDS63596|CCDS93246|CCDS93245|CCDS2681|CCDS63597" Q9BQQ3 MGI:1921748 RGD:621122 606867 HGNC:16769 "ENST00000319283.8|NM_031899.4" +HGNC:16769 GORASP1 golgi reassembly stacking protein 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "GRASP65|P65|FLJ23443" GOLPH5 "golgi phosphoprotein 5|golgi reassembly stacking protein 1, 65kDa" PDZ domain containing 1220 2001-11-02 2002-05-24 2015-11-09 2023-01-20 64689 ENSG00000114745 OTTHUMG00000131292 uc003ciw.3 AJ409349 NM_031899 "CCDS93245|CCDS2681|CCDS63597|CCDS63596|CCDS93246" Q9BQQ3 MGI:1921748 RGD:621122 606867 HGNC:16769 "ENST00000319283.8|NM_031899.4" HGNC:17500 GORASP2 golgi reassembly stacking protein 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "GRASP55|GRS2|GOLPH6" "golgi reassembly stacking protein 2, 55 kDa|golgi reassembly stacking protein 2, 55kDa" PDZ domain containing 1220 2002-05-23 2015-11-09 2023-01-20 26003 ENSG00000115806 OTTHUMG00000154072 uc002ugk.4 NM_001201428 CCDS33325 Q9H8Y8 10487747 MGI:2135962 RGD:619911 608693 HGNC:17500 "ENST00000234160.5|NM_015530.5" -HGNC:4430 GOSR1 golgi SNAP receptor complex member 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "GOS28|P28|GS28|GOS-28|GOLIM2" golgi integral membrane protein 2 SNAREs 1124 1999-04-23 2023-01-20 9527 ENSG00000108587 OTTHUMG00000132796 uc002hfe.4 AF047438 NM_001007024 "CCDS11258|CCDS45643|CCDS45644" O95249 "8638159|9653160|15004235" MGI:1858260 RGD:71093 604026 HGNC:4430 "ENST00000451249.7|NM_001007025.2" -HGNC:4431 GOSR2 golgi SNAP receptor complex member 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "GS27|Bos1" "SNAREs|MicroRNA protein coding host genes" "1124|1691" 1999-04-23 2023-01-20 9570 ENSG00000108433 OTTHUMG00000178080 uc002ila.4 AF007548 NM_001012511 "CCDS42355|CCDS11507|CCDS45719|CCDS82148|CCDS86612|CCDS86613|CCDS86609|CCDS86610|CCDS86611" O14653 "9349823|10198168" MGI:1927204 RGD:62079 604027 280623 HGNC:4431 "ENST00000640051.2|NM_004287.5" HGNC:4431 +HGNC:4430 GOSR1 golgi SNAP receptor complex member 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "GOS28|P28|GS28|GOS-28|GOLIM2" golgi integral membrane protein 2 SNAREs 1124 1999-04-23 2023-01-20 9527 ENSG00000108587 OTTHUMG00000132796 uc002hfe.4 AF047438 NM_001007024 "CCDS11258|CCDS45644|CCDS45643" O95249 "8638159|9653160|15004235" MGI:1858260 RGD:71093 604026 HGNC:4430 "ENST00000451249.7|NM_001007025.2" +HGNC:4431 GOSR2 golgi SNAP receptor complex member 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "GS27|Bos1" "SNAREs|MicroRNA protein coding host genes" "1124|1691" 1999-04-23 2023-01-20 9570 ENSG00000108433 OTTHUMG00000178080 uc002ila.4 AF007548 NM_001012511 "CCDS45719|CCDS86611|CCDS42355|CCDS86613|CCDS86612|CCDS86609|CCDS82148|CCDS11507|CCDS86610" O14653 "9349823|10198168" MGI:1927204 RGD:62079 604027 280623 HGNC:4431 "ENST00000640051.2|NM_004287.5" HGNC:4431 HGNC:55346 GOSR2-DT GOSR2 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Divergent transcripts 1990 2020-11-04 2020-11-04 119139904 ENSG00000261886 HGNC:4432 GOT1 glutamic-oxaloacetic transaminase 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "AST1|SGOT|AST" "aspartate aminotransferase 1|aspartate transaminase 1|glutamate oxaloacetate transaminase 1" "glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)|glutamic-oxaloacetic transaminase 1, soluble" 2001-06-22 2016-04-05 2023-01-20 2805 ENSG00000120053 OTTHUMG00000018882 uc001kpr.4 M37400 NM_002079 CCDS7479 P17174 1974457 MGI:95791 RGD:2721 138180 470386 2.6.1.1 HGNC:4432 "ENST00000370508.7|NM_002079.3" HGNC:55848 GOT1-DT GOT1 divergent transcript non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 Divergent transcripts 1990 2021-09-01 2021-09-01 101927300 ENSG00000224934 NR_183991 @@ -10570,9 +10571,9 @@ HGNC:54891 GOT2P6 GOT2 pseudogene 6 pseudogene pseudogene Approved Xp11.21 Xp11. HGNC:54892 GOT2P7 GOT2 pseudogene 7 pseudogene pseudogene Approved Xp22.2 Xp22.2 2020-04-17 2020-04-17 100422628 ENSG00000232392 NG_026658 HGNC:4439 GP1BA glycoprotein Ib platelet subunit alpha protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "CD42b|GPIbalpha" platelet glycoprotein Ib alpha chain GP1B glycoprotein Ib (platelet), alpha polypeptide CD molecules 471 1990-09-10 2018-04-23 2023-01-20 2811 ENSG00000185245 OTTHUMG00000177946 uc021tnz.1 NM_000173 CCDS54068 P07359 3353370 MGI:1333744 RGD:1310239 LRG_480|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_480.xml 606672 122237 CD42b HGNC:4439 "ENST00000329125.6|NM_000173.7" HGNC:4439 HGNC:4440 GP1BB glycoprotein Ib platelet subunit beta protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "CD42c|GPIbbeta" platelet glycoprotein Ib beta chain glycoprotein Ib (platelet), beta polypeptide CD molecules 471 1991-11-21 2018-04-23 2023-01-20 2812 ENSG00000203618 OTTHUMG00000150397 uc062bnf.1 NM_000407 CCDS42980 P13224 3422424 MGI:107852 RGD:621050 LRG_478|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_478.xml 138720 122241 CD42c HGNC:4440 "ENST00000366425.4|NM_000407.5" HGNC:4440 -HGNC:4441 GP2 glycoprotein 2 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 ZAP75 glycoprotein 2 (zymogen granule membrane) 1997-10-09 2016-01-14 2023-01-20 2813 ENSG00000169347 OTTHUMG00000131489 uc002dgw.4 U36221 NM_016295 "CCDS10582|CCDS42128|CCDS45433|CCDS45432" P55259 9605860 MGI:1914383 RGD:621695 602977 HGNC:4441 "ENST00000302555.10|NM_001502.4" +HGNC:4441 GP2 glycoprotein 2 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 ZAP75 glycoprotein 2 (zymogen granule membrane) 1997-10-09 2016-01-14 2023-01-20 2813 ENSG00000169347 OTTHUMG00000131489 uc002dgw.4 U36221 NM_016295 "CCDS42128|CCDS45432|CCDS45433|CCDS10582" P55259 9605860 MGI:1914383 RGD:621695 602977 HGNC:4441 "ENST00000302555.10|NM_001502.4" HGNC:4443 GP5 glycoprotein V platelet protein-coding gene gene with protein product Approved 3q29 03q29 CD42d platelet glycoprotein V glycoprotein V (platelet) CD molecules 471 1993-11-03 2016-01-14 2023-01-20 2814 ENSG00000178732 OTTHUMG00000150345 uc062rou.1 L11238 NM_004488 CCDS3307 P40197 7690959 MGI:1096363 RGD:2724 173511 470392 CD42d HGNC:4443 "ENST00000692618.1|NM_004488.2" -HGNC:14388 GP6 glycoprotein VI platelet protein-coding gene gene with protein product Approved 19q13.42 19q13.42 GPVI platelet glycoprotein VI glycoprotein VI (platelet) "Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "594|1410" 2001-01-19 2016-01-14 2023-01-20 51206 ENSG00000088053 OTTHUMG00000159709 uc002qil.4 AB035073 NM_001083899 "CCDS58678|CCDS46184|CCDS42626" Q9HCN6 11027634 MGI:1889810 RGD:1589130 LRG_560|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_560.xml 605546 225404 HGNC:14388 "ENST00000310373.7|NM_001083899.2" HGNC:14388 +HGNC:14388 GP6 glycoprotein VI platelet protein-coding gene gene with protein product Approved 19q13.42 19q13.42 GPVI platelet glycoprotein VI glycoprotein VI (platelet) "Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "594|1410" 2001-01-19 2016-01-14 2023-01-20 51206 ENSG00000088053 OTTHUMG00000159709 uc002qil.4 AB035073 NM_001083899 "CCDS42626|CCDS46184|CCDS58678" Q9HCN6 11027634 MGI:1889810 RGD:1589130 LRG_560|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_560.xml 605546 225404 HGNC:14388 "ENST00000310373.7|NM_001083899.2" HGNC:14388 HGNC:55305 GP6-AS1 GP6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 Antisense RNAs 1987 2020-10-15 2020-10-15 107985325 ENSG00000267265 XR_001754012 HGNC:4444 GP9 glycoprotein IX platelet protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "CD42a|GPIX" platelet glycoprotein IX glycoprotein IX (platelet) CD molecules 471 1991-03-04 2016-01-14 2023-01-20 2815 ENSG00000169704 OTTHUMG00000159944 uc003elm.3 NM_000174 CCDS3055 P14770 2253772 MGI:1860137 RGD:1561601 LRG_477|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_477.xml 173515 122244 CD42a HGNC:4444 "ENST00000307395.5|NM_000174.5" HGNC:4444 HGNC:4445 GPA33 glycoprotein A33 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 A33 glycoprotein A33 (transmembrane) "V-set domain containing|Immunoglobulin like domain containing|IgCAM CXADR-related subfamily" "590|594|1414" 2000-05-05 2016-01-14 2023-01-20 10223 ENSG00000143167 OTTHUMG00000034435 uc001gea.2 U79725 NM_005814 CCDS1258 Q99795 "9012807|9245713" MGI:1891703 RGD:1306711 602171 HGNC:4445 "ENST00000367868.4|NM_005814.3" @@ -10582,7 +10583,7 @@ HGNC:51484 GPAA1P2 glycosylphosphatidylinositol anchor attachment 1 pseudogene 2 HGNC:20298 GPALPP1 GPALPP motifs containing 1 protein-coding gene gene with protein product Approved 13q14.12 13q14.12 "bA245H20.2|AD029|LSR7" KIAA1704 KIAA1704 2004-04-16 2013-08-12 2013-08-12 2023-01-20 55425 ENSG00000133114 OTTHUMG00000016841 AB051491 NM_018559 CCDS9394 Q8IXQ4 11214970 MGI:1914717 RGD:1307254 HGNC:20298 "ENST00000379151.9|NM_018559.5" HGNC:24865 GPAM glycerol-3-phosphate acyltransferase, mitochondrial protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "KIAA1560|MGC26846|GPAT1" glycerol-3-phosphate acyltransferase 1, mitochondrial Glycerol-3-phosphate acyltransferases 1035 2004-04-30 2023-01-20 57678 ENSG00000119927 OTTHUMG00000019055 uc001kzp.4 AL832464 NM_020918 CCDS7570 Q9HCL2 "10997877|8369314" MGI:109162 RGD:61847 602395 2.3.1.15 HGNC:24865 "ENST00000348367.9|NM_001244949.2" HGNC:13920 GPANK1 G-patch domain and ankyrin repeats 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G5|D6S54E|GPATCH10|ANKRD59" "G patch domain containing 10|ankyrin repeat domain 59" BAT4 HLA-B associated transcript 4 "Ankyrin repeat domain containing|G-patch domain containing" "403|579" 2001-07-13 2010-11-24 2015-11-13 2023-01-20 7918 ENSG00000204438 OTTHUMG00000031174 uc003nvq.3 NM_033177 CCDS4711 O95872 "2911734|2813433" MGI:2148975 RGD:1303304 142610 HGNC:13920 "ENST00000375896.9|NM_033177.4" -HGNC:27168 GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial protein-coding gene gene with protein product Approved 2q11.2 02q11.2 CT123 cancer/testis antigen 123 Glycerol-3-phosphate acyltransferases 1035 2009-07-15 2023-01-20 150763 ENSG00000186281 OTTHUMG00000155208 uc061luj.1 BC042847 NM_207328 "CCDS82482|CCDS42714|CCDS92810|CCDS92811" Q6NUI2 "17689486|23611983" MGI:2684962 RGD:1304904 616431 2.3.1.15 HGNC:27168 "ENST00000434632.6|NM_001321527.2" +HGNC:27168 GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial protein-coding gene gene with protein product Approved 2q11.2 02q11.2 CT123 cancer/testis antigen 123 Glycerol-3-phosphate acyltransferases 1035 2009-07-15 2023-01-20 150763 ENSG00000186281 OTTHUMG00000155208 uc061luj.1 BC042847 NM_207328 "CCDS92811|CCDS42714|CCDS82482|CCDS92810" Q6NUI2 "17689486|23611983" MGI:2684962 RGD:1304904 616431 2.3.1.15 HGNC:27168 "ENST00000434632.6|NM_001321527.2" HGNC:52330 GPAT2P1 glycerol-3-phosphate acyltransferase 2 pseudogene 1 pseudogene pseudogene Approved 2q11.1 02q11.1 2016-07-22 2016-11-21 2016-11-21 643219 ENSG00000237510 OTTHUMG00000155187 NG_021572 PGOHUM00000298572 HGNC:52330 HGNC:52331 GPAT2P2 glycerol-3-phosphate acyltransferase 2 pseudogene 2 pseudogene pseudogene Approved 2q11.2 02q11.2 2016-07-22 2016-07-22 653924 ENSG00000188383 OTTHUMG00000155331 NG_023357 PGOHUM00000298579 HGNC:52331 HGNC:28157 GPAT3 glycerol-3-phosphate acyltransferase 3 protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "MGC11324|LPAAT-theta|MAG1|HMFN0839|AGPAT10" lysophosphatidic acid acyltransferase, theta AGPAT9 "1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)|1-acylglycerol-3-phosphate O-acyltransferase 9" "1-acylglycerol-3-phosphate O-acyltransferases|Glycerol-3-phosphate acyltransferases" "46|1035" 2008-01-29 2015-08-03 2015-08-03 2023-01-20 84803 ENSG00000138678 OTTHUMG00000130431 AK055749 NM_032717 CCDS3606 Q53EU6 "12975309|17170135" MGI:3603816 RGD:1565703 610958 2.3.1.15 HGNC:28157 "ENST00000264409.5|NM_032717.5" @@ -10597,12 +10598,12 @@ HGNC:29066 GPATCH8 G-patch domain containing 8 protein-coding gene gene with pro HGNC:26768 GPATCH11 G-patch domain containing 11 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "FLJ38348|CENPY|CENP-Y" centromere protein Y CCDC75 coiled-coil domain containing 75 G-patch domain containing 579 2006-02-14 2013-01-28 2015-11-13 2023-03-15 253635 ENSG00000152133 OTTHUMG00000128469 uc010ezz.4 AK095667 NM_174931 CCDS1785 Q8N954 MGI:1858435 RGD:1311424 HGNC:26768 "ENST00000674370.2|NM_174931.4" HGNC:42659 GPATCH11P1 GPATCH11 pseudogene 1 pseudogene pseudogene Approved 3p13 03p13 CCDC75P1 coiled-coil domain containing 75 pseudogene 1 2011-08-12 2021-03-24 2021-03-24 2021-03-24 344709 ENSG00000182921 OTTHUMG00000158866 NG_022207 PGOHUM00000259830 HGNC:42659 HGNC:19680 GPBAR1 G protein-coupled bile acid receptor 1 protein-coding gene gene with protein product Approved 2q35 02q35 "BG37|GPCR|TGR5|M-BAR|GPCR19|GPR131|MGC40597" G protein-coupled bile acid receptor 933 2003-01-24 2023-01-20 151306 ENSG00000179921 OTTHUMG00000155203 uc061siw.1 AB086170 NM_001077191 CCDS46515 Q8TDU6 12419312 MGI:2653863 RGD:631400 610147 470394 objectId:37 HGNC:19680 "ENST00000519574.2|NM_170699.3" -HGNC:29520 GPBP1 GC-rich promoter binding protein 1 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 DKFZp761C169 vasculin 2005-07-19 2023-01-20 65056 ENSG00000062194 OTTHUMG00000162321 uc003jrh.5 NM_022913 "CCDS56368|CCDS47212|CCDS47211|CCDS34162|CCDS82998" Q86WP2 12842993 MGI:1920524 RGD:1305492 608412 HGNC:29520 "ENST00000506184.7|NM_022913.4" +HGNC:29520 GPBP1 GC-rich promoter binding protein 1 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 DKFZp761C169 vasculin 2005-07-19 2023-01-20 65056 ENSG00000062194 OTTHUMG00000162321 uc003jrh.5 NM_022913 "CCDS56368|CCDS34162|CCDS47211|CCDS82998|CCDS47212" Q86WP2 12842993 MGI:1920524 RGD:1305492 608412 HGNC:29520 "ENST00000506184.7|NM_022913.4" HGNC:28843 GPBP1L1 GC-rich promoter binding protein 1 like 1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 SP192 GC-rich promoter binding protein 1-like 1 2005-07-19 2016-01-21 2023-01-20 60313 ENSG00000159592 OTTHUMG00000040990 uc001coq.4 NM_021639 CCDS528 Q9HC44 12477932 MGI:1924360 RGD:1359562 HGNC:28843 "ENST00000355105.8|NM_021639.5" HGNC:4449 GPC1 glypican 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 glypican glypican proteoglycan 1 "Glypicans|MicroRNA protein coding host genes" "572|1691" 1994-06-17 2023-01-20 2817 ENSG00000063660 OTTHUMG00000133349 uc002vyw.5 AK095397 NM_002081 CCDS2534 P35052 7774946 MGI:1194891 RGD:61853 600395 353445 HGNC:4449 "ENST00000264039.7|NM_002081.3" HGNC:56102 GPC1-AS1 GPC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Antisense RNAs 1987 2022-01-05 2022-01-05 100130449 ENSG00000218416 NR_161169 HGNC:4450 GPC2 glypican 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "cerebroglycan|FLJ38962|DKFZp547M109" glypican proteoglycan 2, cerebroglycan proteoglycan glypican 2 (cerebroglycan) Glypicans 572 1994-06-17 2007-02-15 2023-01-20 221914 ENSG00000213420 OTTHUMG00000154894 uc003utv.3 BX375153 NM_152742 CCDS5689 Q8N158 8294498 MGI:1919201 RGD:621363 618446 HGNC:4450 "ENST00000292377.4|NM_152742.3" -HGNC:4451 GPC3 glypican 3 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "OCI-5|SGBS|SGBS1|SGB|DGSX" glypican proteoglycan 3 SDYS Glypicans 572 1996-08-08 2023-01-20 2719 ENSG00000147257 OTTHUMG00000022448 uc004exe.4 L47125 NM_004484 "CCDS55495|CCDS14638|CCDS94667|CCDS55496" P51654 "8589713|9787072" MGI:104903 RGD:2725 LRG_505|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_505.xml GPC3 300037 122248 objectId:2959 HGNC:4451 "ENST00000370818.8|NM_004484.4" HGNC:4451 +HGNC:4451 GPC3 glypican 3 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "OCI-5|SGBS|SGBS1|SGB|DGSX" glypican proteoglycan 3 SDYS Glypicans 572 1996-08-08 2023-01-20 2719 ENSG00000147257 OTTHUMG00000022448 uc004exe.4 L47125 NM_004484 "CCDS14638|CCDS55496|CCDS94667|CCDS55495" P51654 "8589713|9787072" MGI:104903 RGD:2725 LRG_505|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_505.xml GPC3 300037 122248 objectId:2959 HGNC:4451 "ENST00000370818.8|NM_004484.4" HGNC:4451 HGNC:52897 GPC3-AS1 GPC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.2 Xq26.2 Antisense RNAs 1987 2017-08-04 2019-08-09 110806308 ENSG00000286096 AF085935 NR_148713 "27573079|31168873" HGNC:52897 HGNC:4452 GPC4 glypican 4 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 K-glypican glypican proteoglycan 4 Glypicans 572 1996-08-08 2023-01-20 2239 ENSG00000076716 OTTHUMG00000022434 uc004exc.2 AF030186 NM_001448 CCDS14637 O75487 9787072 MGI:104902 RGD:1359399 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPC4 300168 167870 HGNC:4452 "ENST00000370828.4|NM_001448.3" HGNC:4452 HGNC:4453 GPC5 glypican 5 protein-coding gene gene with protein product Approved 13q31.3 13q31.3 glypican proteoglycan 5 "Glypicans|MicroRNA protein coding host genes" "572|1691" 1996-12-12 2023-01-20 2262 ENSG00000179399 OTTHUMG00000017200 uc010tif.4 AF001462 NM_004466 CCDS9468 P78333 "9070915|20304703|19556317|15057823" MGI:1194894 RGD:1308835 602446 470396 HGNC:4453 "ENST00000377067.9|NM_004466.6" @@ -10614,28 +10615,28 @@ HGNC:39909 GPC6-AS1 GPC6 antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:39910 GPC6-AS2 GPC6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 GPC6 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100873973 ENSG00000224394 OTTHUMG00000017203 uc058xti.1 NR_046536 GPC6-AS2 HGNC:39910 HGNC:26957 GPCPD1 glycerophosphocholine phosphodiesterase 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "KIAA1434|GDE5|GDPD6" glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 2010-01-19 2015-06-24 2023-01-20 56261 ENSG00000125772 OTTHUMG00000031806 uc002wme.6 NM_019593 CCDS13090 Q9NPB8 "10718198|20576599" MGI:104898 RGD:735140 614124 HGNC:26957 "ENST00000379019.7|NM_019593.5" HGNC:33851 GPCPD1P1 GPCPD1 pseudogene 1 pseudogene pseudogene Approved 7p11.2 07p11.2 2023-04-18 2023-04-19 100101483 ENSG00000235095 NG_006477 PGOHUM00000302198 -HGNC:4455 GPD1 glycerol-3-phosphate dehydrogenase 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 glycerol-3-phosphate dehydrogenase 1 (soluble) 2001-06-22 2015-11-05 2023-01-20 2819 ENSG00000167588 OTTHUMG00000169813 uc001rvz.5 NM_001257199 "CCDS8799|CCDS58229" P21695 MGI:95679 RGD:621381 138420 303828 1.1.1.8 HGNC:4455 "ENST00000301149.8|NM_005276.4" HGNC:4455 +HGNC:4455 GPD1 glycerol-3-phosphate dehydrogenase 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 glycerol-3-phosphate dehydrogenase 1 (soluble) 2001-06-22 2015-11-05 2023-01-20 2819 ENSG00000167588 OTTHUMG00000169813 uc001rvz.5 NM_001257199 "CCDS58229|CCDS8799" P21695 MGI:95679 RGD:621381 138420 303828 1.1.1.8 HGNC:4455 "ENST00000301149.8|NM_005276.4" HGNC:4455 HGNC:28956 GPD1L glycerol-3-phosphate dehydrogenase 1 like protein-coding gene gene with protein product Approved 3p22.3 03p22.3 KIAA0089 2004-07-29 2017-06-13 2023-01-20 23171 ENSG00000152642 OTTHUMG00000155846 uc003cew.4 D42047 NM_015141 CCDS33729 Q8N335 7788527 MGI:1289257 RGD:1560123 LRG_419|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_419.xml 611778 218672 HGNC:28956 "ENST00000282541.10|NM_015141.4" HGNC:28956 HGNC:4456 GPD2 glycerol-3-phosphate dehydrogenase 2 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) EF-hand domain containing 863 1994-06-16 2015-11-05 2023-01-20 2820 ENSG00000115159 OTTHUMG00000131951 uc002tzf.5 NM_000408 CCDS2202 P43304 MGI:99778 RGD:2726 138430 1.1.1.8 HGNC:4456 "ENST00000438166.7|NM_000408.5" HGNC:4456 HGNC:4485 GPER1 G protein-coupled estrogen receptor 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "FEG-1|GPCR-Br|LERGU|LERGU2|DRY12|LyGPR|CEPR" "CMKRL2|GPR30|GPER" G protein-coupled receptor 30 G protein-coupled estrogen receptor 934 1997-06-12 2013-08-14 2007-07-03 2023-01-20 2852 ENSG00000164850 OTTHUMG00000023680 U63917 NM_001039966 CCDS5322 Q99527 "9479505|17655271" MGI:1924104 RGD:619845 601805 objectId:221 HGNC:4485 "ENST00000397088.4|NM_001098201.3" HGNC:18054 GPHA2 glycoprotein hormone subunit alpha 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "GPA2|ZSIG51|A2|MGC126572" "glycoprotein alpha 2|cysteine knot protein|thyrostimulin subunit alpha" glycoprotein hormone alpha 2 Glycoprotein hormone subunits 1896 2002-02-15 2019-05-09 2023-01-20 170589 ENSG00000149735 OTTHUMG00000165631 uc001oca.3 AF260739 NM_130769 CCDS8086 Q96T91 "16210345|12089349" MGI:2156541 RGD:621748 609651 HGNC:18054 "ENST00000279168.7|NM_130769.4" HGNC:18055 GPHB5 glycoprotein hormone subunit beta 5 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "ZLUT1|GPB5" thyrostimulin subunit beta glycoprotein hormone beta 5 Glycoprotein hormone subunits 1896 2004-07-29 2019-05-09 2023-01-20 122876 ENSG00000179600 OTTHUMG00000168678 uc032bdx.1 AF467770 NM_145171 CCDS73643 Q86YW7 "16210345|12089349" MGI:2156540 RGD:1359264 609652 HGNC:18055 "ENST00000621500.2|NM_145171.4" HGNC:15465 GPHN gephyrin protein-coding gene gene with protein product Approved 14q23.3 14q23.3 KIAA1385 2001-03-30 2023-01-20 10243 ENSG00000171723 OTTHUMG00000029785 uc001xix.4 AB037806 NM_020806 "CCDS32103|CCDS9777" Q9NQX3 "1319186|10325225|18403029" MGI:109602 RGD:69194 GPHN 603930 122256 HGNC:15465 "ENST00000478722.6|NM_020806.5" HGNC:15465 -HGNC:4458 GPI glucose-6-phosphate isomerase protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "AMF|NLK" glucose phosphate isomerase 2001-06-22 2010-05-11 2023-01-20 2821 ENSG00000105220 OTTHUMG00000182087 uc002nvg.3 M61214 NM_000175 "CCDS86742|CCDS12437|CCDS54246" P06744 "2387591|8575767" MGI:95797 RGD:2727 LRG_1178|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1178.xml 172400 122259 5.3.1.9 HGNC:4458 "ENST00000356487.11|NM_000175.5" HGNC:4458 +HGNC:4458 GPI glucose-6-phosphate isomerase protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "AMF|NLK" glucose phosphate isomerase 2001-06-22 2010-05-11 2023-01-20 2821 ENSG00000105220 OTTHUMG00000182087 uc002nvg.3 M61214 NM_000175 "CCDS12437|CCDS86742|CCDS54246" P06744 "2387591|8575767" MGI:95797 RGD:2727 LRG_1178|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1178.xml 172400 122259 5.3.1.9 HGNC:4458 "ENST00000356487.11|NM_000175.5" HGNC:4458 HGNC:24945 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "LOC338328|GPI-HBP1" endothelial cell LPL transporter GPI anchored high density lipoprotein binding protein 1 LY6/PLAUR domain containing 1226 2008-02-07 2008-02-07 2023-01-20 338328 ENSG00000277494 OTTHUMG00000164950 uc033cbs.1 AF088057 NM_178172 CCDS34954 Q8IV16 "12496272|17883852|17620854|17403372" MGI:1915703 RGD:1564237 612757 201108 HGNC:24945 "ENST00000622500.2|NM_178172.6" HGNC:24945 HGNC:30677 GPKOW G-patch domain and KOW motifs protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "T54|GPATC5|GPATCH5|Spp2|Mos2" G patch domain containing 5 "G-patch domain containing|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "579|1498|1508|1510|1516" 2004-05-11 2015-11-13 2023-01-20 27238 ENSG00000068394 OTTHUMG00000021511 uc004dmr.5 U66359 NM_015698 CCDS35251 Q92917 "21880142|22365833" MGI:1859610 RGD:1583600 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPKOW 301003 HGNC:30677 "ENST00000156109.7|NM_015698.6" HGNC:30677 HGNC:4459 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 1998-08-21 2023-03-15 2822 ENSG00000112293 OTTHUMG00000016104 uc003ned.3 L11701 NM_001503 CCDS4553 P80108 11072085 MGI:106604 RGD:631371 602515 HGNC:4459 "ENST00000230036.2|NM_001503.4" -HGNC:4460 GPM6A glycoprotein M6A protein-coding gene gene with protein product Approved 4q34.2 04q34.2 GPM6 1996-05-28 2023-01-20 2823 ENSG00000150625 OTTHUMG00000160760 uc003iug.5 NM_001261447 "CCDS58936|CCDS3824|CCDS54822" P51674 "8661015|18574501" MGI:107671 RGD:631368 601275 HGNC:4460 "ENST00000393658.7|NM_201591.3" +HGNC:4460 GPM6A glycoprotein M6A protein-coding gene gene with protein product Approved 4q34.2 04q34.2 GPM6 1996-05-28 2023-01-20 2823 ENSG00000150625 OTTHUMG00000160760 uc003iug.5 NM_001261447 "CCDS3824|CCDS54822|CCDS58936" P51674 "8661015|18574501" MGI:107671 RGD:631368 601275 HGNC:4460 "ENST00000393658.7|NM_201591.3" HGNC:55577 GPM6A-DT GPM6A divergent transcript non-coding RNA RNA, long non-coding Approved 4q34.2 04q34.2 Divergent transcripts 1990 2021-04-23 2021-04-23 101928590 ENSG00000249106 NR_125901 -HGNC:4461 GPM6B glycoprotein M6B protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "M6B|MGC17150|MGC54284" 1996-06-21 2023-01-20 2824 ENSG00000046653 OTTHUMG00000021162 uc004cwa.4 NM_001001995 "CCDS14158|CCDS35207|CCDS35206|CCDS48084" Q13491 8661015 MGI:107672 RGD:620580 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPM6B|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=GPM6B" 300051 HGNC:4461 "ENST00000316715.9|NM_001001995.3" +HGNC:4461 GPM6B glycoprotein M6B protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "M6B|MGC17150|MGC54284" 1996-06-21 2023-01-20 2824 ENSG00000046653 OTTHUMG00000021162 uc004cwa.4 NM_001001995 "CCDS14158|CCDS48084|CCDS35206|CCDS35207" Q13491 8661015 MGI:107672 RGD:620580 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPM6B|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=GPM6B" 300051 HGNC:4461 "ENST00000316715.9|NM_001001995.3" HGNC:38782 GPM6BP1 glycoprotein M6B pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 2010-08-03 2014-11-19 106480720 ENSG00000230458 OTTHUMG00000041985 NG_045493 PGOHUM00000233994 HGNC:38782 HGNC:38781 GPM6BP2 glycoprotein M6B pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 2010-08-03 2014-11-18 106480426 ENSG00000236429 OTTHUMG00000041949 NG_045377 PGOHUM00000233778 HGNC:38781 HGNC:38783 GPM6BP3 glycoprotein M6B pseudogene 3 pseudogene pseudogene Approved 22q11.1 22q11.1 2010-08-03 2014-11-19 100873787 ENSG00000234121 OTTHUMG00000144175 NG_032217 PGOHUM00000246385 HGNC:38783 -HGNC:17030 GPN1 GPN-loop GTPase 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "NTPBP|MBDIN|ATPBD1A|RPAP4" RNA polymerase II associated protein 4 XAB1 "XPA binding protein 1|XPA binding protein 1, GTPase" GPN-loop GTPases 578 2003-10-14 2008-04-30 2008-04-30 2023-01-20 11321 ENSG00000198522 OTTHUMG00000097784 uc061hra.1 AB044661 NM_007266 "CCDS46248|CCDS46250|CCDS46249|CCDS1760" Q9HCN4 "11058119|11124703" MGI:1921504 RGD:1589985 611479 HGNC:17030 "ENST00000610189.2|NM_007266.4" +HGNC:17030 GPN1 GPN-loop GTPase 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "NTPBP|MBDIN|ATPBD1A|RPAP4" RNA polymerase II associated protein 4 XAB1 "XPA binding protein 1|XPA binding protein 1, GTPase" GPN-loop GTPases 578 2003-10-14 2008-04-30 2008-04-30 2023-01-20 11321 ENSG00000198522 OTTHUMG00000097784 uc061hra.1 AB044661 NM_007266 "CCDS46249|CCDS1760|CCDS46248|CCDS46250" Q9HCN4 "11058119|11124703" MGI:1921504 RGD:1589985 611479 HGNC:17030 "ENST00000610189.2|NM_007266.4" HGNC:25513 GPN2 GPN-loop GTPase 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ10349 ATPBD1B ATP binding domain 1 family, member B GPN-loop GTPases 578 2005-08-12 2008-04-30 2008-04-30 2023-01-20 54707 ENSG00000142751 OTTHUMG00000004227 uc001bnd.2 AK001211 NM_018066 CCDS289 Q9H9Y4 12975309 MGI:2140368 RGD:1311749 HGNC:25513 "ENST00000374135.9|NM_018066.4" -HGNC:30186 GPN3 GPN-loop GTPase 3 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 MGC14560 ATPBD1C ATP binding domain 1 family, member C GPN-loop GTPases 578 2005-08-12 2008-04-30 2008-04-30 2023-01-20 51184 ENSG00000111231 OTTHUMG00000169524 uc001tqr.4 BC008416 NM_016301 "CCDS9147|CCDS53830|CCDS53831" Q9UHW5 12975309 MGI:1289326 RGD:1303034 HGNC:30186 "ENST00000228827.8|NM_016301.4" +HGNC:30186 GPN3 GPN-loop GTPase 3 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 MGC14560 ATPBD1C ATP binding domain 1 family, member C GPN-loop GTPases 578 2005-08-12 2008-04-30 2008-04-30 2023-01-20 51184 ENSG00000111231 OTTHUMG00000169524 uc001tqr.4 BC008416 NM_016301 "CCDS53831|CCDS53830|CCDS9147" Q9UHW5 12975309 MGI:1289326 RGD:1303034 HGNC:30186 "ENST00000228827.8|NM_016301.4" HGNC:44914 GPN3P1 GPN-loop GTPase 3 pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 2012-12-18 2012-12-18 100302689 ENSG00000227465 OTTHUMG00000017834 NG_012769 PGOHUM00000238375 HGNC:44914 -HGNC:4462 GPNMB glycoprotein nmb protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "NMB|HGFIN" "transmembrane glycoprotein|glycoprotein NMB|glycoprotein nmb-like protein|osteoactivin|hematopoietic growth factor inducible neurokinin-1|glycoprotein nonmetastatic melanoma protein B" glycoprotein (transmembrane) nmb 1999-10-26 2016-02-03 2023-01-20 10457 ENSG00000136235 OTTHUMG00000022811 uc003swb.4 X76534 NM_001005340 "CCDS5380|CCDS34610" Q14956 7814155 MGI:1934765 RGD:71008 604368 HGNC:4462 "ENST00000258733.9|NM_002510.3" HGNC:4462 +HGNC:4462 GPNMB glycoprotein nmb protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "NMB|HGFIN" "transmembrane glycoprotein|glycoprotein NMB|glycoprotein nmb-like protein|osteoactivin|hematopoietic growth factor inducible neurokinin-1|glycoprotein nonmetastatic melanoma protein B" glycoprotein (transmembrane) nmb 1999-10-26 2016-02-03 2023-01-20 10457 ENSG00000136235 OTTHUMG00000022811 uc003swb.4 X76534 NM_001005340 "CCDS34610|CCDS5380" Q14956 7814155 MGI:1934765 RGD:71008 604368 HGNC:4462 "ENST00000258733.9|NM_002510.3" HGNC:4462 HGNC:4484 GPR3 G protein-coupled receptor 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 ACCA adenylate cyclase constitutive activator G protein-coupled receptors, Class A orphans 262 1994-07-22 2023-02-06 2827 ENSG00000181773 OTTHUMG00000003397 uc001bod.5 BC032702 NM_005281 CCDS303 P46089 "7851889|7639700|34048700" MGI:101908 RGD:628686 600241 470400 objectId:83 HGNC:4484 "ENST00000374024.4|NM_005281.4" HGNC:4497 GPR4 G protein-coupled receptor 4 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 G protein-coupled receptors, Class A orphans 262 1994-07-25 2023-02-06 2828 ENSG00000177464 OTTHUMG00000182126 uc002pcm.4 BC067536 NM_005282 CCDS12669 P46093 "8595909|11535583|26068853" MGI:2441992 RGD:1311604 600551 objectId:84 HGNC:4497 "ENST00000323040.5|NM_005282.3" HGNC:4515 GPR6 G protein-coupled receptor 6 protein-coding gene gene with protein product Approved 6q21 06q21 G protein-coupled receptors, Class A orphans 262 1994-07-25 2023-01-20 2830 ENSG00000146360 OTTHUMG00000015354 uc021zds.3 NM_001286099 "CCDS5079|CCDS69172" P46095 8530049 MGI:2155249 RGD:70939 600553 objectId:85 HGNC:4515 "ENST00000275169.5|NM_005284.5" @@ -10678,28 +10679,28 @@ HGNC:40043 GPR75-ASB3 GPR75-ASB3 readthrough other readthrough Approved 2p16.2 0 HGNC:4528 GPR78 G protein-coupled receptor 78 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 G protein-coupled receptors, Class A orphans 262 2000-01-20 2023-01-20 27201 ENSG00000155269 OTTHUMG00000128483 uc003glk.5 AF411107 NM_080819 CCDS3403 Q96P69 11574155 606921 objectId:116 HGNC:4528 "ENST00000382487.5|NM_080819.5" HGNC:4529 GPR79 G protein-coupled receptor 79, pseudogene pseudogene pseudogene Approved 3q25.32 03q25.32 GPR79P G protein-coupled receptors, Class A orphans 262 2000-01-20 2011-04-14 2012-08-21 27200 ENSG00000232374 OTTHUMG00000158842 AF411108 NG_001272 "11574155|19146662" PGOHUM00000250268 objectId:117 HGNC:4529 HGNC:4533 GPR82 G protein-coupled receptor 82 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 G protein-coupled receptors, Class A orphans 262 2000-01-20 2023-01-20 27197 ENSG00000171657 OTTHUMG00000021373 uc004dft.3 AF411111 NM_080817 CCDS14259 Q96P67 11574155 MGI:2441734 RGD:2318147 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR82 300748 objectId:118 HGNC:4533 "ENST00000302548.5|NM_080817.5" -HGNC:4523 GPR83 G protein-coupled receptor 83 protein-coding gene gene with protein product Approved 11q21 11q21 GPR72 G protein-coupled receptor 72 G protein-coupled receptors, Class A orphans 262 1999-07-30 2003-08-01 2003-07-30 2023-02-07 10888 ENSG00000123901 OTTHUMG00000167779 uc001pet.2 AF236081 NM_016540 "CCDS81616|CCDS8297" Q9NYM4 "10760605|11060465|27117253" MGI:95712 RGD:619891 605569 objectId:119 HGNC:4523 "ENST00000243673.7|NM_016540.4" +HGNC:4523 GPR83 G protein-coupled receptor 83 protein-coding gene gene with protein product Approved 11q21 11q21 GPR72 G protein-coupled receptor 72 G protein-coupled receptors, Class A orphans 262 1999-07-30 2003-08-01 2003-07-30 2023-02-07 10888 ENSG00000123901 OTTHUMG00000167779 uc001pet.2 AF236081 NM_016540 "CCDS8297|CCDS81616" Q9NYM4 "10760605|11060465|27117253" MGI:95712 RGD:619891 605569 objectId:119 HGNC:4523 "ENST00000243673.7|NM_016540.4" HGNC:4535 GPR84 G protein-coupled receptor 84 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 EX33 G protein-coupled receptors, Class A orphans 262 2000-05-23 2023-01-20 53831 ENSG00000139572 OTTHUMG00000169839 uc058owr.1 AF237762 NM_020370 CCDS8878 Q9NQS5 11273702 MGI:1934129 RGD:1585277 606383 objectId:120 HGNC:4535 "ENST00000267015.4|NM_020370.3" HGNC:56187 GPR84-AS1 GPR84, ZNF385A, ITGA5 and GTSF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Antisense RNAs 1987 2022-01-17 2022-01-17 102724050 ENSG00000258086 NR_120488 HGNC:4536 GPR85 G protein-coupled receptor 85 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 SREB2 G protein-coupled receptors, Class A orphans 262 2000-05-23 2023-01-20 54329 ENSG00000164604 OTTHUMG00000156933 uc003vgq.3 AF250237 NM_001146265 CCDS5758 P60893 "10978537|10833454" MGI:1927851 RGD:71011 605188 objectId:121 HGNC:4536 "ENST00000424100.2|NM_001146267.2" HGNC:4538 GPR87 G protein-coupled receptor 87 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 GPR95 G protein-coupled receptors, Class A orphans 262 2000-05-23 2023-01-20 53836 ENSG00000138271 OTTHUMG00000159858 uc003eyt.4 AF237763 NM_023915 CCDS3157 Q9BY21 11273702 MGI:1934133 RGD:1307852 606379 objectId:122 HGNC:4538 "ENST00000260843.5|NM_023915.4" HGNC:4539 GPR88 G protein-coupled receptor 88 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "G-protein coupled receptor 88|G protein coupled receptor 88" G protein-coupled receptors, Class A orphans 262 2000-06-02 2006-02-15 2023-01-20 54112 ENSG00000181656 OTTHUMG00000010981 uc001dth.4 AB042411 NM_022049 CCDS772 Q9GZN0 MGI:1927653 RGD:61921 607468 objectId:123 HGNC:4539 "ENST00000315033.5|NM_022049.3" HGNC:4539 -HGNC:31984 GPR89A G protein-coupled receptor 89A protein-coding gene gene with protein product Approved 1q21.1 01q21.1 UNQ192 7TM uncharacterized proteins 310 2006-02-13 2007-06-06 2007-06-06 2023-01-20 653519 ENSG00000117262 OTTHUMG00000013738 uc001eot.3 AB097024 NM_001097612 "CCDS72858|CCDS72857" B7ZAQ6 MGI:1914799 612821 HGNC:31984 "ENST00000313835.14|NM_001097612.2" +HGNC:31984 GPR89A G protein-coupled receptor 89A protein-coding gene gene with protein product Approved 1q21.1 01q21.1 UNQ192 7TM uncharacterized proteins 310 2006-02-13 2007-06-06 2007-06-06 2023-01-20 653519 ENSG00000117262 OTTHUMG00000013738 uc001eot.3 AB097024 NM_001097612 "CCDS72857|CCDS72858" B7ZAQ6 MGI:1914799 612821 HGNC:31984 "ENST00000313835.14|NM_001097612.2" HGNC:13840 GPR89B G protein-coupled receptor 89B protein-coding gene gene with protein product Approved 1q21.2 01q21.2 SH120 "GPR89|GPR89C" "G protein-coupled receptor 89|G protein-coupled receptor 89C" 7TM uncharacterized proteins 310 2004-07-28 2007-06-06 2007-06-06 2023-01-20 51463 ENSG00000188092 OTTHUMG00000013452 uc001epv.5 U78723 NM_016334 CCDS930 P0CG08 11042152 MGI:1914799 RGD:1304837 612806 HGNC:13840 "ENST00000314163.12|NM_016334.5" HGNC:13951 GPR89P G protein-coupled receptor 89 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 C11H1.2-Lp 2004-01-16 2016-10-06 394254 ENSG00000216915 OTTHUMG00000014481 NG_000934 PGOHUM00000301282 HGNC:13951 HGNC:14963 GPR101 G protein-coupled receptor 101 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 G protein-coupled receptors, Class A orphans 262 2001-04-23 2023-02-07 83550 ENSG00000165370 OTTHUMG00000022521 uc011mwh.2 AF411115 NM_054021 CCDS14662 Q96P66 "11574155|25470569|32958754" MGI:2685211 RGD:1564196 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR101|LRG_1000|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1000.xml" 300393 420409 objectId:125 HGNC:14963 "ENST00000651716.2|NM_054021.2" HGNC:14963 -HGNC:17830 GPR107 G protein-coupled receptor 107 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KIAA1624|RP11-88G17|FLJ20998|LUSTR1" 7TM uncharacterized proteins 310 2002-01-29 2023-03-30 57720 ENSG00000148358 OTTHUMG00000020804 uc004bzd.3 AF376725 NM_001136557 "CCDS48042|CCDS48041|CCDS35162" Q5VW38 "22933024|36373655" MGI:2139054 RGD:1305882 618490 objectId:651 HGNC:17830 "ENST00000347136.11|NM_020960.5" +HGNC:17830 GPR107 G protein-coupled receptor 107 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KIAA1624|RP11-88G17|FLJ20998|LUSTR1" 7TM uncharacterized proteins 310 2002-01-29 2023-03-30 57720 ENSG00000148358 OTTHUMG00000020804 uc004bzd.3 AF376725 NM_001136557 "CCDS35162|CCDS48042|CCDS48041" Q5VW38 "22933024|36373655" MGI:2139054 RGD:1305882 618490 objectId:651 HGNC:17830 "ENST00000347136.11|NM_020960.5" HGNC:17829 GPR108 G protein-coupled receptor 108 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 LUSTR2 "7TM uncharacterized proteins|MicroRNA protein coding host genes" "310|1691" 2002-01-29 2023-01-20 56927 ENSG00000125734 OTTHUMG00000170129 uc002mfp.4 NM_001080452 "CCDS45940|CCDS42479" Q9NPR9 MGI:1925558 RGD:735149 618491 HGNC:17829 "ENST00000264080.12|NM_001080452.2" HGNC:19060 GPR119 G protein-coupled receptor 119 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "hGPCR2|GPCR2" G protein-coupled receptors, Class A orphans 262 2003-11-26 2023-01-20 139760 ENSG00000147262 OTTHUMG00000022397 uc011muv.3 AY288416 NM_178471 CCDS14625 Q8TDV5 "12044878|14623098" MGI:2668412 RGD:727808 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR119 300513 objectId:126 HGNC:19060 "ENST00000682440.1|NM_178471.3" HGNC:17482 GPR132 G protein-coupled receptor 132 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 G2A G2 accumulation G protein-coupled receptors, Class A orphans 262 2003-12-10 2023-02-06 29933 ENSG00000183484 OTTHUMG00000140173 uc001yqd.5 AF083955 NM_013345 "CCDS9997|CCDS61567" Q9UNW8 "12086852|30139917" MGI:1890220 RGD:1310817 606167 objectId:128 HGNC:17482 "ENST00000329797.8|NM_013345.4" HGNC:19991 GPR135 G protein-coupled receptor 135 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "HUMNPIIY20|PAFR" G protein-coupled receptors, Class A orphans 262 2003-11-26 2023-01-20 64582 ENSG00000181619 OTTHUMG00000140325 uc010apj.4 AY288418 NM_022571 CCDS9738 Q8IZ08 14623098 MGI:2676315 RGD:727844 607970 objectId:129 HGNC:19991 "ENST00000395116.2|NM_022571.6" -HGNC:24300 GPR137 G protein-coupled receptor 137 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "C11orf4|GPR137A|TM7SF1L1" 7TM uncharacterized proteins 310 2006-01-26 2006-01-26 2023-03-15 56834 ENSG00000173264 OTTHUMG00000167817 uc058cvw.1 AJ250392 NM_020155 "CCDS53658|CCDS53656|CCDS8066|CCDS53657" Q96N19 "10873569|12732197" MGI:2147529 RGD:1586317 objectId:652 HGNC:24300 "ENST00000438980.7|NM_001170880.2" +HGNC:24300 GPR137 G protein-coupled receptor 137 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "C11orf4|GPR137A|TM7SF1L1" 7TM uncharacterized proteins 310 2006-01-26 2006-01-26 2023-03-15 56834 ENSG00000173264 OTTHUMG00000167817 uc058cvw.1 AJ250392 NM_020155 "CCDS53656|CCDS8066|CCDS53657|CCDS53658" Q96N19 "10873569|12732197" MGI:2147529 RGD:1586317 objectId:652 HGNC:24300 "ENST00000438980.7|NM_001170880.2" HGNC:11862 GPR137B G protein-coupled receptor 137B protein-coding gene gene with protein product Approved 1q42.3 01q42.3 TM7SF1 transmembrane 7 superfamily member 1 (upregulated in kidney) 7TM uncharacterized proteins 310 1997-10-27 2006-01-26 2006-01-26 2023-01-20 7107 ENSG00000077585 OTTHUMG00000037994 uc001hxq.3 AF027826 NM_003272 CCDS1609 O60478 9521871 MGI:1891463 RGD:1307342 604658 HGNC:11862 "ENST00000366592.8|NM_003272.4" HGNC:25445 GPR137C G protein-coupled receptor 137C protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "DKFZp762F0713|TM7SF1L2" 7TM uncharacterized proteins 310 2006-01-26 2023-01-20 283554 ENSG00000180998 OTTHUMG00000171104 uc001wzu.4 BX647179 NM_001099652 CCDS45106 Q8N3F9 MGI:1917963 RGD:1563070 HGNC:25445 "ENST00000321662.11|NM_001099652.2" HGNC:19995 GPR139 G protein-coupled receptor 139 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 PGR3 G protein-coupled receptors, Class A orphans 262 2004-05-26 2023-02-07 124274 ENSG00000180269 OTTHUMG00000177690 uc002dgu.2 AY255545 NM_001002911 CCDS32398 Q6DWJ6 "26349500|26396690|36736525" MGI:2685341 RGD:1311729 618448 objectId:130 HGNC:19995 "ENST00000570682.2|NM_001002911.4" HGNC:19997 GPR141 G protein-coupled receptor 141 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 PGR13 G protein-coupled receptors, Class A orphans 262 2003-11-26 2023-01-20 353345 ENSG00000187037 OTTHUMG00000102105 uc064cwu.1 AY288420 NM_181791 CCDS5451 Q7Z602 "12679517|14623098" MGI:2672983 RGD:727906 609045 objectId:131 HGNC:19997 "ENST00000334425.2|NM_001381946.1" HGNC:53813 GPR141BP G protein-coupled receptor 141B, pseudogene pseudogene pseudogene Approved 7p14.1 07p14.1 2018-06-06 2018-06-06 100420413 ENSG00000283444 OTTHUMG00000191699 NG_026555 MGI:2441809 PGOHUM00000302589 HGNC:53813 -HGNC:20088 GPR142 G protein-coupled receptor 142 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 PGR2 G protein-coupled receptors, Class A orphans 262 2003-11-26 2023-01-20 350383 ENSG00000257008 OTTHUMG00000178581 uc032fqt.2 AY255622 NM_181790 "CCDS11698|CCDS92387" Q7Z601 14623098 MGI:2668437 RGD:1559926 609046 objectId:132 HGNC:20088 "ENST00000582579.6|NM_001331076.1" +HGNC:20088 GPR142 G protein-coupled receptor 142 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 PGR2 G protein-coupled receptors, Class A orphans 262 2003-11-26 2023-01-20 350383 ENSG00000257008 OTTHUMG00000178581 uc032fqt.2 AY255622 NM_181790 "CCDS92387|CCDS11698" Q7Z601 14623098 MGI:2668437 RGD:1559926 609046 objectId:132 HGNC:20088 "ENST00000582579.6|NM_001331076.1" HGNC:20145 GPR143 G protein-coupled receptor 143 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 ocular albinism 1 OA1 ocular albinism 1 (Nettleship-Falls) 7TM uncharacterized proteins 310 2003-12-01 2003-12-01 2023-01-20 4935 ENSG00000101850 OTTHUMG00000021118 uc004cst.3 Z48804 NM_000273 CCDS14134 P51810 "7647783|10471510" MGI:107193 RGD:1565799 "Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the OA1 Gene|http://www.retina-international.org/files/sci-news/oa1mut.htm" 300808 122263 objectId:203 HGNC:20145 "ENST00000467482.6|NM_000273.3" HGNC:20145 HGNC:18499 GPR143YP G protein-coupled receptor 143 Y-linked pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 GPR143Y "OA1P|GPR143P" "ocular albinism 1 (Nettleship-Falls) Y-linked pseudogene|G protein-coupled receptor 143 pseudogene" 2002-05-22 2023-05-04 2023-05-04 2023-05-04 352896 ENSG00000232583 OTTHUMG00000035300 NG_002814 12815422 HGNC:18499 HGNC:21718 GPR146 G protein-coupled receptor 146 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 PGR8 G protein-coupled receptors, Class A orphans 262 2003-07-14 2023-02-07 115330 ENSG00000164849 OTTHUMG00000023934 uc003sjx.5 BC014241 NM_138445 CCDS5321 Q96CH1 "15777626|31778654" MGI:1933113 RGD:1560731 objectId:133 HGNC:21718 "ENST00000444847.2|NM_001303473.2" @@ -10709,23 +10710,23 @@ HGNC:23628 GPR150 G protein-coupled receptor 150 protein-coding gene gene with p HGNC:23624 GPR151 G protein-coupled receptor 151 protein-coding gene gene with protein product Approved 5q32 05q32 "PGR7|GALR4" galanin receptor 4 G protein-coupled receptors, Class A orphans 262 2003-11-26 2023-01-20 134391 ENSG00000173250 OTTHUMG00000163444 uc003lod.2 AY255557 NM_194251 CCDS34266 Q8TDV0 12679517 MGI:2441887 RGD:727873 618487 objectId:137 HGNC:23624 "ENST00000311104.3|NM_194251.3" HGNC:23622 GPR152 G protein-coupled receptor 152 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 PGR5 G protein-coupled receptors, Class A orphans 262 2003-11-26 2023-01-20 390212 ENSG00000175514 OTTHUMG00000168032 uc001olm.3 AY255600 NM_206997 CCDS8165 Q8TDT2 12679517 MGI:2685519 RGD:1584082 objectId:138 HGNC:23622 "ENST00000312457.2|NM_206997.1" HGNC:23618 GPR153 G protein-coupled receptor 153 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 PGR1 G protein-coupled receptors, Class A orphans 262 2003-11-26 2023-01-20 387509 ENSG00000158292 OTTHUMG00000001272 uc001amp.2 AY255529 NM_207370 CCDS64 Q6NV75 12679517 MGI:1916157 RGD:1564170 614269 objectId:139 HGNC:23618 "ENST00000377893.3|NM_207370.4" -HGNC:22951 GPR155 G protein-coupled receptor 155 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "DEPDC3|DEP.7|FLJ31819|PGR22" 2003-11-26 2023-01-20 151556 ENSG00000163328 OTTHUMG00000132336 uc002uiu.5 AY255528 NM_152529 "CCDS2259|CCDS74605" Q7Z3F1 12679517 MGI:1915776 RGD:1309162 HGNC:22951 "ENST00000392552.7|NM_152529.7" +HGNC:22951 GPR155 G protein-coupled receptor 155 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "DEPDC3|DEP.7|FLJ31819|PGR22" 2003-11-26 2023-01-20 151556 ENSG00000163328 OTTHUMG00000132336 uc002uiu.5 AY255528 NM_152529 "CCDS74605|CCDS2259" Q7Z3F1 12679517 MGI:1915776 RGD:1309162 HGNC:22951 "ENST00000392552.7|NM_152529.7" HGNC:55827 GPR155-DT GPR155 divergent transcript non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Divergent transcripts 1990 2021-08-02 2021-08-02 105373748 ENSG00000226853 NR_183817 -HGNC:20844 GPR156 G protein-coupled receptor 156 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "PGR28|GABABL" G protein-coupled receptors, Class C orphans 285 2003-11-26 2023-01-20 165829 ENSG00000175697 OTTHUMG00000159406 uc011bjg.3 AF488739 NM_153002 "CCDS54629|CCDS2997" Q8NFN8 12591167 MGI:2653880 RGD:708438 610464 objectId:209 HGNC:20844 "ENST00000464295.6|NM_153002.3" +HGNC:20844 GPR156 G protein-coupled receptor 156 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "PGR28|GABABL" G protein-coupled receptors, Class C orphans 285 2003-11-26 2023-01-20 165829 ENSG00000175697 OTTHUMG00000159406 uc011bjg.3 AF488739 NM_153002 "CCDS2997|CCDS54629" Q8NFN8 12591167 MGI:2653880 RGD:708438 610464 objectId:209 HGNC:20844 "ENST00000464295.6|NM_153002.3" HGNC:23687 GPR157 G protein-coupled receptor 157 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 FLJ12132 7TM uncharacterized proteins 310 2003-12-01 2023-01-20 80045 ENSG00000180758 OTTHUMG00000001758 uc001apq.2 AK022194 NM_024980 CCDS100 Q5UAW9 10574461 MGI:2442046 RGD:1311096 objectId:205 HGNC:23687 "ENST00000377411.5|NM_024980.5" HGNC:23689 GPR158 G protein-coupled receptor 158 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 KIAA1136 G protein-coupled receptors, Class C orphans 285 2003-12-01 2023-01-20 57512 ENSG00000151025 OTTHUMG00000017832 uc001isj.4 AB032962 NM_020752 CCDS31166 Q5T848 25792749 MGI:2441697 RGD:1305841 614573 objectId:210 HGNC:23689 "ENST00000376351.4|NM_020752.3" HGNC:44163 GPR158-AS1 GPR158 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 GPR158 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100128811 ENSG00000233642 OTTHUMG00000017830 uc010qde.2 AK094758 NR_027333 GPR158-AS1 HGNC:44163 HGNC:23693 GPR160 G protein-coupled receptor 160 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "GPCR150|GPCR1" G protein-coupled receptors, Class A orphans 262 2003-12-01 2023-01-20 26996 ENSG00000173890 OTTHUMG00000158776 uc003fgi.4 AB083583 NM_014373 CCDS3211 Q9UJ42 12044878 MGI:1919112 RGD:1560200 objectId:140 HGNC:23693 "ENST00000355897.10|NM_014373.3" HGNC:54682 GPR160P1 GPR160 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-11-27 2019-11-27 100130649 ENSG00000203363 NG_021512 HGNC:54683 GPR160P2 GPR160 pseudogene 2 pseudogene pseudogene Approved 17q11.2 17q11.2 2019-11-27 2019-11-27 100420482 ENSG00000265863 NG_026241 -HGNC:23694 GPR161 G protein-coupled receptor 161 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 RE2 G protein-coupled receptors, Class A orphans 262 2003-12-01 2023-03-15 23432 ENSG00000143147 OTTHUMG00000034651 uc001gfd.5 AF091890 NM_007369 "CCDS58043|CCDS58045|CCDS1268|CCDS58044|CCDS72978|CCDS58042" Q8N6U8 "18755178|29222391" MGI:2685054 RGD:1563245 612250 426145 objectId:141 HGNC:23694 "ENST00000682931.1|NM_001375883.1" HGNC:23694 +HGNC:23694 GPR161 G protein-coupled receptor 161 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 RE2 G protein-coupled receptors, Class A orphans 262 2003-12-01 2023-03-15 23432 ENSG00000143147 OTTHUMG00000034651 uc001gfd.5 AF091890 NM_007369 "CCDS72978|CCDS58042|CCDS58045|CCDS1268|CCDS58043|CCDS58044" Q8N6U8 "18755178|29222391" MGI:2685054 RGD:1563245 612250 426145 objectId:141 HGNC:23694 "ENST00000682931.1|NM_001375883.1" HGNC:23694 HGNC:16693 GPR162 G protein-coupled receptor 162 protein-coding gene gene with protein product Approved 12p13 12p13 "A-2|GRCA" G protein-coupled receptors, Class A orphans 262 2005-05-09 2023-01-20 27239 ENSG00000250510 OTTHUMG00000168368 uc001qqw.2 "U47928|U47929|U47924|U47925" NM_019858 "CCDS8563|CCDS44819" Q16538 15777626 MGI:1315214 RGD:1307437 objectId:142 HGNC:16693 "ENST00000311268.8|NM_019858.2" HGNC:21462 GPR165P G protein-coupled receptor 165, pseudogene pseudogene pseudogene Approved Xq12 Xq12 "PGR15|6530406P05Rik" 2006-02-16 2019-03-26 2022-06-08 392486 NG_005303 15777626 MGI:1923456 HGNC:21462 HGNC:23626 GPR166P G protein-coupled receptor 166 pseudogene pseudogene pseudogene Approved 6p21.2 06p21.2 PGR9 2006-05-17 2012-05-03 442206 AB083591 NG_025935 HGNC:23626 HGNC:30057 GPR171 G protein-coupled receptor 171 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 H963 platelet activating receptor homolog G protein-coupled receptors, Class A orphans 262 2004-07-12 2023-01-20 29909 ENSG00000174946 OTTHUMG00000159861 uc003eyq.5 AF002986 NM_013308 CCDS3155 O14626 "9370294|24043826" MGI:2442043 RGD:1585271 618925 objectId:143 HGNC:30057 "ENST00000309180.6|NM_013308.4" HGNC:18186 GPR173 G protein-coupled receptor 173 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 SREB3 "G-protein coupled receptor 173|G protein coupled receptor 173" G protein-coupled receptors, Class A orphans 262 2004-08-19 2006-02-15 2023-01-20 54328 ENSG00000184194 OTTHUMG00000021596 uc004dru.4 AB040801 NM_018969 CCDS14349 Q9NS66 10833454 MGI:1918021 RGD:620748 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR173 300253 objectId:144 HGNC:18186 "ENST00000332582.5|NM_018969.6" HGNC:30245 GPR174 G protein-coupled receptor 174 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "FKSG79|LPS3" lysophosphatidylserine receptor 3 G protein-coupled receptors, Class A orphans 262 2004-09-02 2023-02-07 84636 ENSG00000147138 OTTHUMG00000021898 uc004edg.1 AF345567 NM_032553 CCDS14443 Q9BXC1 "23667180|25320102" MGI:2685222 RGD:1564689 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR174 300903 objectId:145 HGNC:30245 "ENST00000645147.2|NM_032553.3" -HGNC:32370 GPR176 G protein-coupled receptor 176 protein-coding gene gene with protein product Approved 15q14-q15.1 15q14-q15.1 Gm1012 G protein-coupled receptors, Class A orphans 262 2005-10-30 2023-01-20 11245 ENSG00000166073 OTTHUMG00000129873 uc001zkj.3 BC067106 NM_007223 "CCDS61588|CCDS61589|CCDS10051" Q14439 7893747 MGI:2685858 RGD:621718 612183 objectId:637 HGNC:32370 "ENST00000561100.2|NM_007223.3" +HGNC:32370 GPR176 G protein-coupled receptor 176 protein-coding gene gene with protein product Approved 15q14-q15.1 15q14-q15.1 Gm1012 G protein-coupled receptors, Class A orphans 262 2005-10-30 2023-01-20 11245 ENSG00000166073 OTTHUMG00000129873 uc001zkj.3 BC067106 NM_007223 "CCDS10051|CCDS61588|CCDS61589" Q14439 7893747 MGI:2685858 RGD:621718 612183 objectId:637 HGNC:32370 "ENST00000561100.2|NM_007223.3" HGNC:54389 GPR176-DT GPR176 divergent transcript non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 GPR176-DT Divergent transcripts 1990 2019-05-17 2021-04-28 2021-04-28 100505534 ENSG00000246863 NR_184051 HGNC:54389 HGNC:31371 GPR179 G protein-coupled receptor 179 protein-coding gene gene with protein product Approved 17q12 17q12 CSNB1E GPR158L1 "GPR158-like 1|GPR179" G protein-coupled receptors, Class C orphans 285 2004-03-22 2006-02-16 2006-02-16 2023-01-20 440435 ENSG00000277399 OTTHUMG00000188545 uc032gkv.1 NM_001004334 CCDS42308 Q6PRD1 MGI:2443409 RGD:1560033 614515 292381 objectId:211 HGNC:31371 "ENST00000616987.5|NM_001004334.4" HGNC:31371 HGNC:28899 GPR180 G protein-coupled receptor 180 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 ITR intimal thickness related receptor 7TM uncharacterized proteins 310 2006-03-20 2023-01-20 160897 ENSG00000152749 OTTHUMG00000017207 uc001vly.4 AF339823 NM_180989 CCDS9472 Q86V85 12538434 MGI:1930949 RGD:1359193 607787 HGNC:28899 "ENST00000376958.5|NM_180989.6" @@ -10742,35 +10743,35 @@ HGNC:13308 GPRC5B G protein-coupled receptor class C group 5 member B protein-co HGNC:13309 GPRC5C G protein-coupled receptor class C group 5 member C protein-coding gene gene with protein product Approved 17q25.1 17q25.1 RAIG-3 "G protein-coupled receptor, family C, group 5, member C|G protein-coupled receptor, class C, group 5, member C" G protein-coupled receptors, Class C orphans 285 2000-09-19 2016-02-24 2023-01-20 55890 ENSG00000170412 OTTHUMG00000067613 uc002jkp.4 AF207989 NM_001366261 "CCDS92388|CCDS11699" Q9NQ84 10945465 MGI:1917605 RGD:1311408 605949 objectId:260 HGNC:13309 "ENST00000392627.7|NM_022036.4" HGNC:13310 GPRC5D G protein-coupled receptor class C group 5 member D protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "G protein-coupled receptor, family C, group 5, member D|G protein-coupled receptor, class C, group 5, member D" G protein-coupled receptors, Class C orphans 285 2000-09-19 2016-02-24 2023-01-20 55507 ENSG00000111291 OTTHUMG00000168711 uc010shp.2 AF209923 NM_018654 CCDS8658 Q9NZD1 MGI:1935037 RGD:1563887 607437 objectId:261 HGNC:13310 "ENST00000228887.6|NM_018654.2" HGNC:53599 GPRC5D-AS1 GPRC5D and HEBP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.1 12p13.1 RP11-392P7.6 Antisense RNAs 1987 2017-06-16 2017-06-23 100506314 ENSG00000247498 OTTHUMG00000168719 NR_038920 28612367 HGNC:53599 -HGNC:18510 GPRC6A G protein-coupled receptor class C group 6 member A protein-coding gene gene with protein product Approved 6q22.1 06q22.1 bA86F4.3 "G protein-coupled receptor, family C, group 6, member A|G protein-coupled receptor, class C, group 6, member A" Calcium sensing receptors 279 2002-04-26 2016-02-24 2023-01-20 222545 ENSG00000173612 OTTHUMG00000015447 uc003pxj.3 AF502962 NM_001286354 "CCDS5112|CCDS69184|CCDS69185" Q5T6X5 MGI:2429498 RGD:735077 613572 objectId:55 HGNC:18510 "ENST00000310357.8|NM_148963.4" +HGNC:18510 GPRC6A G protein-coupled receptor class C group 6 member A protein-coding gene gene with protein product Approved 6q22.1 06q22.1 bA86F4.3 "G protein-coupled receptor, family C, group 6, member A|G protein-coupled receptor, class C, group 6, member A" Calcium sensing receptors 279 2002-04-26 2016-02-24 2023-01-20 222545 ENSG00000173612 OTTHUMG00000015447 uc003pxj.3 AF502962 NM_001286354 "CCDS5112|CCDS69185|CCDS69184" Q5T6X5 MGI:2429498 RGD:735077 613572 objectId:55 HGNC:18510 "ENST00000310357.8|NM_148963.4" HGNC:24835 GPRIN1 G protein regulated inducer of neurite outgrowth 1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "GRIN1|KIAA1893" 2006-08-24 2023-01-20 114787 ENSG00000169258 OTTHUMG00000130659 uc003meo.2 AB067480 NM_052899 CCDS4405 Q7Z2K8 11572484 MGI:1349455 RGD:1308762 611239 HGNC:24835 "ENST00000303991.5|NM_052899.3" HGNC:23730 GPRIN2 G protein regulated inducer of neurite outgrowth 2 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 MGC15171 KIAA0514 KIAA0514 2003-12-04 2006-08-24 2006-08-24 2023-01-20 9721 ENSG00000204175 OTTHUMG00000018107 uc057taj.1 BC011672 NM_014696 CCDS73101 O60269 9628581 MGI:2444560 RGD:1308922 611240 HGNC:23730 "ENST00000374314.6|NM_001385282.1" HGNC:27733 GPRIN3 GPRIN family member 3 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "GRIN3|FLJ42625" 2006-08-24 2023-01-20 285513 ENSG00000185477 OTTHUMG00000161044 uc003hsm.2 AK124616 NM_198281 CCDS34030 Q6ZVF9 15488195 MGI:1924785 RGD:1565690 611241 HGNC:27733 "ENST00000609438.2|NM_198281.3" -HGNC:4549 GPS1 G protein pathway suppressor 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "COPS1|CSN1" COP9 signalosome subunit 1 COP9 signalosome 932 1997-10-10 2023-01-20 2873 ENSG00000169727 OTTHUMG00000178484 uc002kdl.2 NM_212492 "CCDS11800|CCDS82225|CCDS82226|CCDS82227|CCDS82228|CCDS32774|CCDS92418" Q13098 9535219 MGI:2384801 RGD:621532 601934 HGNC:4549 "ENST00000578552.6|NM_001321092.3" +HGNC:4549 GPS1 G protein pathway suppressor 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "COPS1|CSN1" COP9 signalosome subunit 1 COP9 signalosome 932 1997-10-10 2023-01-20 2873 ENSG00000169727 OTTHUMG00000178484 uc002kdl.2 NM_212492 "CCDS32774|CCDS82225|CCDS82226|CCDS82227|CCDS92418|CCDS82228|CCDS11800" Q13098 9535219 MGI:2384801 RGD:621532 601934 HGNC:4549 "ENST00000578552.6|NM_001321092.3" HGNC:4550 GPS2 G protein pathway suppressor 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 NCoR/SMRT transcriptional repression complex subunits 1875 1997-10-10 2023-01-20 2874 ENSG00000132522 OTTHUMG00000102198 uc002gfx.2 U28963 NM_004489 CCDS11100 Q13227 8943324 MGI:1891751 RGD:1562746 601935 HGNC:4550 "ENST00000380728.7|NM_004489.5" HGNC:49622 GPS2P1 G protein pathway suppressor 2 pseudogene 1 pseudogene pseudogene Approved 9p24.2 09p24.2 2014-01-24 2014-01-24 392281 ENSG00000236496 OTTHUMG00000019451 NG_021604 PGOHUM00000235944 HGNC:49622 HGNC:49623 GPS2P2 G protein pathway suppressor 2 pseudogene 2 pseudogene pseudogene Approved 3q27.3 03q27.3 2014-01-24 2014-01-24 100132058 ENSG00000230951 OTTHUMG00000156576 NG_022285 PGOHUM00000238295 HGNC:49623 -HGNC:17858 GPSM1 G protein signaling modulator 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "AGS3|DKFZP727I051" AGS3 homolog (C. elegans) "G-protein signalling modulator 1 (AGS3-like, C. elegans)|G-protein signaling modulator 1" Tetratricopeptide repeat domain containing 769 2004-02-03 2017-04-13 2023-01-20 26086 ENSG00000160360 OTTHUMG00000020930 uc004chd.2 AI272212 NM_015597 "CCDS6996|CCDS48055|CCDS48056" Q86YR5 "11278352|10969064" MGI:1915089 RGD:628682 609491 HGNC:17858 "ENST00000440944.6|NM_001145638.3" +HGNC:17858 GPSM1 G protein signaling modulator 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "AGS3|DKFZP727I051" AGS3 homolog (C. elegans) "G-protein signalling modulator 1 (AGS3-like, C. elegans)|G-protein signaling modulator 1" Tetratricopeptide repeat domain containing 769 2004-02-03 2017-04-13 2023-01-20 26086 ENSG00000160360 OTTHUMG00000020930 uc004chd.2 AI272212 NM_015597 "CCDS48055|CCDS6996|CCDS48056" Q86YR5 "11278352|10969064" MGI:1915089 RGD:628682 609491 HGNC:17858 "ENST00000440944.6|NM_001145638.3" HGNC:29501 GPSM2 G protein signaling modulator 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "LGN|Pins" DFNB82 "G-protein signalling modulator 2 (AGS3-like, C. elegans)|deafness, autosomal recessive 82|G-protein signaling modulator 2" Tetratricopeptide repeat domain containing 769 2004-02-03 2017-04-13 2023-01-20 29899 ENSG00000121957 OTTHUMG00000011730 uc010ovc.3 AY136740 NM_013296 CCDS792 P81274 "11832491|8973305|19888295|20602914|21348867" MGI:1923373 RGD:1560967 LRG_1373|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1373.xml 609245 240651 HGNC:29501 "ENST00000264126.9|NM_013296.5" HGNC:29501 HGNC:13945 GPSM3 G protein signaling modulator 3 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "NG1|G18|G18.1a|G18.1b|G18.2|AGS4" activator of G-protein signaling 4 C6orf9 "chromosome 6 open reading frame 9|G-protein signalling modulator 3 (AGS3-like, C. elegans)|G-protein signaling modulator 3" 2001-04-06 2004-02-04 2017-04-13 2023-01-20 63940 ENSG00000213654 OTTHUMG00000031244 uc011iwf.2 AF155657 NM_022107 CCDS34419 Q9Y4H4 "2259622|15096500" MGI:2146785 RGD:1303014 618558 HGNC:13945 "ENST00000375040.8|NM_001276501.2" HGNC:4552 GPT glutamic--pyruvic transaminase protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "ALT1|ALT|GPT1|SGPT" "alanine aminotransferase|alanine transaminase" glutamic-pyruvate transaminase (alanine aminotransferase) 2001-06-22 2016-06-10 2023-01-20 2875 ENSG00000167701 OTTHUMG00000165176 uc033cct.2 NM_001382664 CCDS6430 P24298 MGI:95802 RGD:621720 138200 2.6.1.2 HGNC:4552 "ENST00000394955.3|NM_005309.3" -HGNC:18062 GPT2 glutamic--pyruvic transaminase 2 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 ALT2 alanine aminotransferase 2 glutamic pyruvate transaminase 2 2002-03-05 2016-06-10 2023-01-20 84706 ENSG00000166123 OTTHUMG00000132541 uc002eel.4 NM_001142466 "CCDS45478|CCDS10725" Q8TD30 MGI:1915391 RGD:1305462 138210 470404 2.6.1.2 HGNC:18062 "ENST00000340124.9|NM_133443.4" HGNC:18062 -HGNC:4553 GPX1 glutathione peroxidase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 selenoprotein GPX1 Selenoproteins 890 2001-06-22 2023-01-20 2876 ENSG00000233276 OTTHUMG00000156837 uc021wxw.2 NM_000581 "CCDS87078|CCDS87077|CCDS87079|CCDS43091|CCDS54582" P07203 9605859 MGI:104887 RGD:2729 138320 470406 1.11.1.9 HGNC:4553 "ENST00000419783.3|NM_000581.4" +HGNC:18062 GPT2 glutamic--pyruvic transaminase 2 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 ALT2 alanine aminotransferase 2 glutamic pyruvate transaminase 2 2002-03-05 2016-06-10 2023-01-20 84706 ENSG00000166123 OTTHUMG00000132541 uc002eel.4 NM_001142466 "CCDS10725|CCDS45478" Q8TD30 MGI:1915391 RGD:1305462 138210 470404 2.6.1.2 HGNC:18062 "ENST00000340124.9|NM_133443.4" HGNC:18062 +HGNC:4553 GPX1 glutathione peroxidase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 selenoprotein GPX1 Selenoproteins 890 2001-06-22 2023-01-20 2876 ENSG00000233276 OTTHUMG00000156837 uc021wxw.2 NM_000581 "CCDS43091|CCDS87079|CCDS54582|CCDS87077|CCDS87078" P07203 9605859 MGI:104887 RGD:2729 138320 470406 1.11.1.9 HGNC:4553 "ENST00000419783.3|NM_000581.4" HGNC:4560 GPX1P1 glutathione peroxidase pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 "GPXL2|GPXP1" 1988-07-25 2010-01-14 2020-04-20 441481 ENSG00000197582 OTTHUMG00000021150 NG_012792 PGOHUM00000241193 HGNC:4560 HGNC:4561 GPX1P2 glutathione peroxidase pseudogene 2 pseudogene pseudogene Approved 21q21.3 21q21.3 "GPXL2|GPXP2P" "GPXL1|GPXP2" 1988-07-25 2010-01-14 2014-11-19 2884 ENSG00000215326 OTTHUMG00000078697 NG_001134 1487153 PGOHUM00000239055 HGNC:4561 HGNC:4554 GPX2 glutathione peroxidase 2 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 GSHPX-GI selenoprotein GPX2 glutathione peroxidase 2 (gastrointestinal) Selenoproteins 890 1993-05-03 2015-02-23 2023-01-20 2877 ENSG00000176153 OTTHUMG00000171677 uc021ruq.3 NM_002083 CCDS41964 P18283 "8428933|8287691" MGI:106609 RGD:727780 138319 1.11.1.9 HGNC:4554 "ENST00000389614.6|NM_002083.4" HGNC:4555 GPX3 glutathione peroxidase 3 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 selenoprotein GPX3 glutathione peroxidase 3 (plasma) Selenoproteins 890 1993-05-03 2015-02-23 2023-01-20 2878 ENSG00000211445 OTTHUMG00000163693 uc021yga.2 NM_001329790 CCDS43389 P22352 "3619451|8287691" MGI:105102 RGD:69224 138321 1.11.1.9 HGNC:4555 "ENST00000388825.9|NM_002084.5" -HGNC:4556 GPX4 glutathione peroxidase 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PHGPx|MCSP" "phospholipid hydroperoxidase|selenoprotein GPX4" glutathione peroxidase 4 (phospholipid hydroperoxidase) Selenoproteins 890 1993-05-03 2012-03-01 2023-01-20 2879 ENSG00000167468 OTTHUMG00000181874 uc021umg.3 "BC039849|X71973" NM_002085 "CCDS42457|CCDS92476" P36969 "8287691|8039723|10464096" MGI:104767 RGD:69226 138322 406611 HGNC:4556 "ENST00000354171.13|NM_002085.5" HGNC:4556 -HGNC:4557 GPX5 glutathione peroxidase 5 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 epididymal androgen-related protein 1994-11-23 2014-09-29 2023-01-20 2880 ENSG00000224586 OTTHUMG00000016307 uc003nll.3 AJ005277 NM_001509 "CCDS4652|CCDS4653" O75715 9639555 MGI:104886 RGD:69227 603435 1.11.1.9 HGNC:4557 "ENST00000412168.7|NM_001509.3" +HGNC:4556 GPX4 glutathione peroxidase 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PHGPx|MCSP" "phospholipid hydroperoxidase|selenoprotein GPX4" glutathione peroxidase 4 (phospholipid hydroperoxidase) Selenoproteins 890 1993-05-03 2012-03-01 2023-01-20 2879 ENSG00000167468 OTTHUMG00000181874 uc021umg.3 "BC039849|X71973" NM_002085 "CCDS92476|CCDS42457" P36969 "8287691|8039723|10464096" MGI:104767 RGD:69226 138322 406611 HGNC:4556 "ENST00000354171.13|NM_002085.5" HGNC:4556 +HGNC:4557 GPX5 glutathione peroxidase 5 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 epididymal androgen-related protein 1994-11-23 2014-09-29 2023-01-20 2880 ENSG00000224586 OTTHUMG00000016307 uc003nll.3 AJ005277 NM_001509 "CCDS4653|CCDS4652" O75715 9639555 MGI:104886 RGD:69227 603435 1.11.1.9 HGNC:4557 "ENST00000412168.7|NM_001509.3" HGNC:4558 GPX6 glutathione peroxidase 6 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 selenoprotein GPX6 GPXP3 "glutathione peroxidase pseudogene 3|glutathione peroxidase 6 (olfactory)" Selenoproteins 890 1994-11-23 2015-02-23 2023-01-20 257202 ENSG00000198704 OTTHUMG00000044828 uc021yrx.1 NM_182701 CCDS43432 P59796 MGI:1922762 RGD:628789 607913 1.11.1.9 HGNC:4558 "ENST00000361902.5|NM_182701.1" HGNC:4559 GPX7 glutathione peroxidase 7 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "FLJ14777|GPX6|NPGPx" 1995-09-01 2023-01-20 2882 ENSG00000116157 OTTHUMG00000008322 uc001cue.4 AF091092 NM_015696 CCDS569 Q96SL4 15294905 MGI:1914555 RGD:1306999 615784 HGNC:4559 "ENST00000361314.5|NM_015696.5" HGNC:33100 GPX8 glutathione peroxidase 8 (putative) protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "UNQ847|EPLA847" 2008-09-29 2023-01-20 493869 ENSG00000164294 OTTHUMG00000162601 uc003jpq.3 BC029424 NM_001008397 "CCDS82997|CCDS78009|CCDS34156" Q8TED1 24566470 MGI:1916840 RGD:1307506 617172 1.11.1.9 HGNC:33100 "ENST00000503787.6|NM_001008397.4" -HGNC:29305 GRAMD1A GRAM domain containing 1A protein-coding gene gene with protein product Approved 19q13.11 19q13.11 FLJ90346 KIAA1533 KIAA1533 GRAM domain containing 1146 2004-02-10 2005-11-02 2005-11-02 2023-01-20 57655 ENSG00000089351 OTTHUMG00000182464 uc010xse.2 AK074864 NM_020895 "CCDS42546|CCDS46046|CCDS92585" Q96CP6 10819331 MGI:105490 RGD:1311022 620178 HGNC:29305 "ENST00000317991.10|NM_020895.5" +HGNC:29305 GRAMD1A GRAM domain containing 1A protein-coding gene gene with protein product Approved 19q13.11 19q13.11 FLJ90346 KIAA1533 KIAA1533 GRAM domain containing 1146 2004-02-10 2005-11-02 2005-11-02 2023-01-20 57655 ENSG00000089351 OTTHUMG00000182464 uc010xse.2 AK074864 NM_020895 "CCDS42546|CCDS92585|CCDS46046" Q96CP6 10819331 MGI:105490 RGD:1311022 620178 HGNC:29305 "ENST00000317991.10|NM_020895.5" HGNC:55275 GRAMD1A-AS1 GRAMD1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Antisense RNAs 1987 2020-10-05 2020-10-05 118827804 ENSG00000269303 -HGNC:29214 GRAMD1B GRAM domain containing 1B protein-coding gene gene with protein product Approved 11q24.1 11q24.1 KIAA1201 LINC01059 long intergenic non-protein coding RNA 1059 GRAM domain containing 1146 2005-11-02 2023-01-20 57476 ENSG00000023171 OTTHUMG00000166004 uc001pyx.4 AB033027 NM_001286563 "CCDS91613|CCDS53720|CCDS81640|CCDS86254|CCDS66254|CCDS66253" Q3KR37 "10574462|33604931" MGI:1925037 RGD:1305443 620179 HGNC:29214 "ENST00000635736.2|NM_001387025.1" -HGNC:25252 GRAMD1C GRAM domain containing 1C protein-coding gene gene with protein product Approved 3q13.31 03q13.31 DKFZp434C0328 GRAM domain containing 1146 2005-11-02 2023-01-20 54762 ENSG00000178075 OTTHUMG00000159340 uc003eaq.5 NM_017577 "CCDS33826|CCDS54625" Q8IYS0 12975309 MGI:2443024 RGD:1305433 620180 HGNC:25252 "ENST00000358160.9|NM_017577.5" +HGNC:29214 GRAMD1B GRAM domain containing 1B protein-coding gene gene with protein product Approved 11q24.1 11q24.1 KIAA1201 LINC01059 long intergenic non-protein coding RNA 1059 GRAM domain containing 1146 2005-11-02 2023-01-20 57476 ENSG00000023171 OTTHUMG00000166004 uc001pyx.4 AB033027 NM_001286563 "CCDS91613|CCDS81640|CCDS53720|CCDS66253|CCDS86254|CCDS66254" Q3KR37 "10574462|33604931" MGI:1925037 RGD:1305443 620179 HGNC:29214 "ENST00000635736.2|NM_001387025.1" +HGNC:25252 GRAMD1C GRAM domain containing 1C protein-coding gene gene with protein product Approved 3q13.31 03q13.31 DKFZp434C0328 GRAM domain containing 1146 2005-11-02 2023-01-20 54762 ENSG00000178075 OTTHUMG00000159340 uc003eaq.5 NM_017577 "CCDS54625|CCDS33826" Q8IYS0 12975309 MGI:2443024 RGD:1305433 620180 HGNC:25252 "ENST00000358160.9|NM_017577.5" HGNC:27287 GRAMD2A GRAM domain containing 2A protein-coding gene gene with protein product Approved 15q23 15q23 GRAMD2 GRAM domain containing 2 GRAM domain containing 1146 2005-11-02 2017-04-26 2017-04-26 2023-01-20 196996 ENSG00000175318 OTTHUMG00000172708 uc002atq.4 AK002016 NM_001012642 CCDS32283 Q8IUY3 29469807 MGI:3528937 RGD:1564007 620181 HGNC:27287 "ENST00000309731.12|NM_001012642.3" -HGNC:24911 GRAMD2B GRAM domain containing 2B protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "NS3TP2|FLJ21313" HCV NS3 transactivated protein 2 GRAMD3 GRAM domain containing 3 GRAM domain containing 1146 2005-11-03 2017-04-26 2017-04-26 2023-01-20 65983 ENSG00000155324 OTTHUMG00000128943 uc003ktu.4 BC008590 NM_023927 "CCDS54891|CCDS4136|CCDS54894|CCDS54893|CCDS54892" Q96HH9 29469807 MGI:1914815 RGD:1311016 620182 HGNC:24911 "ENST00000285689.8|NM_023927.4" +HGNC:24911 GRAMD2B GRAM domain containing 2B protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "NS3TP2|FLJ21313" HCV NS3 transactivated protein 2 GRAMD3 GRAM domain containing 3 GRAM domain containing 1146 2005-11-03 2017-04-26 2017-04-26 2023-01-20 65983 ENSG00000155324 OTTHUMG00000128943 uc003ktu.4 BC008590 NM_023927 "CCDS54894|CCDS54893|CCDS4136|CCDS54891|CCDS54892" Q96HH9 29469807 MGI:1914815 RGD:1311016 620182 HGNC:24911 "ENST00000285689.8|NM_023927.4" HGNC:29113 GRAMD4 GRAM domain containing 4 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "KIAA0767|DIP" death-inducing-protein GRAM domain containing 1146 2008-03-03 2023-01-20 23151 ENSG00000075240 OTTHUMG00000150402 uc062fgc.1 NM_015124 CCDS33672 Q6IC98 "15565177|21127500" MGI:2676308 RGD:1309983 613691 HGNC:29113 "ENST00000406902.6|NM_015124.5" HGNC:39653 GRAMD4P1 GRAM domain containing 4 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 2011-03-18 2014-11-19 100631252 ENSG00000227874 OTTHUMG00000155592 NG_029309 PGOHUM00000259655 HGNC:39653 HGNC:39654 GRAMD4P2 GRAM domain containing 4 pseudogene 2 pseudogene pseudogene Approved 22q11.1 22q11.1 2011-03-18 2014-11-19 100873881 ENSG00000235992 OTTHUMG00000155641 NG_032336 PGOHUM00000246364 HGNC:39654 @@ -10780,71 +10781,71 @@ HGNC:49140 GRAMD4P5 GRAM domain containing 4 pseudogene 5 pseudogene pseudogene HGNC:49141 GRAMD4P6 GRAM domain containing 4 pseudogene 6 pseudogene pseudogene Approved 15q11.2 15q11.2 2013-09-19 2013-09-19 100631250 ENSG00000258848 OTTHUMG00000171733 NG_029297 PGOHUM00000258909 HGNC:49141 HGNC:49142 GRAMD4P7 GRAM domain containing 4 pseudogene 7 pseudogene pseudogene Approved 18p11.21 18p11.21 2013-09-19 2013-09-19 100631251 ENSG00000266242 OTTHUMG00000178701 NG_029305 PGOHUM00000259275 HGNC:49142 HGNC:49143 GRAMD4P8 GRAM domain containing 4 pseudogene 8 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-09-19 2013-09-19 100631247 ENSG00000270930 OTTHUMG00000184418 NG_029310 PGOHUM00000259763 HGNC:49143 -HGNC:4562 GRAP GRB2 related adaptor protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 SH2 domain containing 741 1998-09-29 2018-03-06 2023-01-20 10750 ENSG00000154016 OTTHUMG00000059436 uc002guy.4 U52518 NM_006613 "CCDS82085|CCDS11202" Q13588 "8647802|8995379" MGI:1918770 RGD:1306884 604330 HGNC:4562 "ENST00000284154.10|NM_006613.4" HGNC:4562 +HGNC:4562 GRAP GRB2 related adaptor protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 SH2 domain containing 741 1998-09-29 2018-03-06 2023-01-20 10750 ENSG00000154016 OTTHUMG00000059436 uc002guy.4 U52518 NM_006613 "CCDS11202|CCDS82085" Q13588 "8647802|8995379" MGI:1918770 RGD:1306884 604330 HGNC:4562 "ENST00000284154.10|NM_006613.4" HGNC:4562 HGNC:4563 GRAP2 GRB2 related adaptor protein 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "Grf40|GrbX|GRBLG|GADS|Mona" SH2 domain containing 741 1999-05-17 2018-03-06 2023-01-20 9402 ENSG00000100351 OTTHUMG00000151097 uc003ayh.3 AF102694 NM_004810 CCDS13999 O75791 "9878555|10224278" MGI:1333842 RGD:1307605 604518 HGNC:4563 "ENST00000344138.9|NM_004810.4" HGNC:37240 GRAPL GRB2 related adaptor protein like protein-coding gene gene with protein product Approved 17p11.2 17p11.2 SH2 domain containing 741 2009-10-02 2016-06-10 2023-01-20 400581 ENSG00000189152 OTTHUMG00000059435 uc010cqk.2 BC026233 NM_001129778 CCDS45627 Q8TC17 MGI:1918770 HGNC:37240 "ENST00000344415.9|NM_001129778.3" HGNC:26214 GRAPL-AS1 GRAPL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Antisense RNAs 1987 2020-09-15 2020-09-15 79999 NR_160285 HGNC:55226 GRAPLDR GRAPL long non-coding downstream RNA non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Long non-coding RNAs with non-systematic symbols 1992 2020-09-16 2020-11-11 118597830 ENSG00000262292 HGNC:30963 GRASLND glycosaminoglycan regulatory associated long non-coding RNA non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 RNF144A-AS1 "RNF144A antisense RNA 1 (non-protein coding)|RNF144A antisense RNA 1" Long non-coding RNAs with non-systematic symbols 1992 2012-06-30 2020-04-01 2020-04-01 2020-04-01 386597 ENSG00000228203 OTTHUMG00000151701 uc002qyq.3 NR_033997 "31280115|32202492" RNF144A-AS1 HGNC:30963 -HGNC:4566 GRB2 growth factor receptor bound protein 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 NCKAP2 growth factor receptor-bound protein 2 SH2 domain containing 741 1994-03-04 2015-11-12 2023-01-20 2885 ENSG00000177885 OTTHUMG00000134332 uc002jnx.5 NM_002086 "CCDS11721|CCDS11722" P62993 10051406 MGI:95805 RGD:619758 108355 HGNC:4566 "ENST00000316804.10|NM_002086.5" -HGNC:4567 GRB7 growth factor receptor bound protein 7 protein-coding gene gene with protein product Approved 17q12 17q12 growth factor receptor-bound protein 7 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-05-30 2015-11-12 2023-01-20 2886 ENSG00000141738 OTTHUMG00000133253 uc002hsr.4 D43772 NM_005310 "CCDS11345|CCDS82116|CCDS56028" Q14451 MGI:102683 RGD:619759 601522 HGNC:4567 "ENST00000309156.9|NM_005310.5" -HGNC:4564 GRB10 growth factor receptor bound protein 10 protein-coding gene gene with protein product Approved 7p12.1 07p12.1 growth factor receptor-bound protein 10 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-05-30 2015-11-12 2023-01-20 2887 ENSG00000106070 OTTHUMG00000150622 uc003tpl.3 NM_005311 "CCDS43582|CCDS43583|CCDS87504|CCDS47586" Q13322 MGI:103232 RGD:1566234 LRG_1032|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1032.xml 601523 HGNC:4564 "ENST00000401949.6|NM_001350814.2" +HGNC:4566 GRB2 growth factor receptor bound protein 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 NCKAP2 growth factor receptor-bound protein 2 SH2 domain containing 741 1994-03-04 2015-11-12 2023-01-20 2885 ENSG00000177885 OTTHUMG00000134332 uc002jnx.5 NM_002086 "CCDS11722|CCDS11721" P62993 10051406 MGI:95805 RGD:619758 108355 HGNC:4566 "ENST00000316804.10|NM_002086.5" +HGNC:4567 GRB7 growth factor receptor bound protein 7 protein-coding gene gene with protein product Approved 17q12 17q12 growth factor receptor-bound protein 7 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-05-30 2015-11-12 2023-01-20 2886 ENSG00000141738 OTTHUMG00000133253 uc002hsr.4 D43772 NM_005310 "CCDS56028|CCDS11345|CCDS82116" Q14451 MGI:102683 RGD:619759 601522 HGNC:4567 "ENST00000309156.9|NM_005310.5" +HGNC:4564 GRB10 growth factor receptor bound protein 10 protein-coding gene gene with protein product Approved 7p12.1 07p12.1 growth factor receptor-bound protein 10 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-05-30 2015-11-12 2023-01-20 2887 ENSG00000106070 OTTHUMG00000150622 uc003tpl.3 NM_005311 "CCDS47586|CCDS43583|CCDS43582|CCDS87504" Q13322 MGI:103232 RGD:1566234 LRG_1032|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1032.xml 601523 HGNC:4564 "ENST00000401949.6|NM_001350814.2" HGNC:4565 GRB14 growth factor receptor bound protein 14 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 growth factor receptor-bound protein 14 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-05-30 2015-11-12 2023-01-20 2888 ENSG00000115290 OTTHUMG00000132135 uc002ucl.4 NM_004490 "CCDS92883|CCDS2222" Q14449 8812444 MGI:1355324 RGD:61869 601524 HGNC:4565 "ENST00000263915.8|NM_004490.3" -HGNC:24885 GREB1 growth regulating estrogen receptor binding 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 KIAA0575 gene regulated by estrogen in breast cancer growth regulation by estrogen in breast cancer 1 2009-09-04 2018-03-16 2023-01-20 9687 ENSG00000196208 OTTHUMG00000141276 uc002rbk.2 NM_014668 "CCDS33147|CCDS33146|CCDS42655" Q4ZG55 11103799 MGI:2149712 RGD:1564091 611736 HGNC:24885 "ENST00000381486.7|NM_014668.4" -HGNC:31042 GREB1L GREB1 like retinoic acid receptor coactivator protein-coding gene gene with protein product Approved 18q11.1-q11.2 18q11.1-q11.2 "FLJ13687|C18orf6" KIAA1772 "KIAA1772|growth regulation by estrogen in breast cancer 1 like" 2004-01-22 2009-09-08 2018-03-16 2023-01-20 80000 ENSG00000141449 OTTHUMG00000178892 uc010xam.2 AK023749 NM_024935 "CCDS92442|CCDS45836|CCDS92443" Q9C091 "11214970|28739660" MGI:3576497 RGD:1562371 617782 470408 HGNC:31042 "ENST00000424526.7|NM_001142966.3" HGNC:31042 +HGNC:24885 GREB1 growth regulating estrogen receptor binding 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 KIAA0575 gene regulated by estrogen in breast cancer growth regulation by estrogen in breast cancer 1 2009-09-04 2018-03-16 2023-01-20 9687 ENSG00000196208 OTTHUMG00000141276 uc002rbk.2 NM_014668 "CCDS33147|CCDS42655|CCDS33146" Q4ZG55 11103799 MGI:2149712 RGD:1564091 611736 HGNC:24885 "ENST00000381486.7|NM_014668.4" +HGNC:31042 GREB1L GREB1 like retinoic acid receptor coactivator protein-coding gene gene with protein product Approved 18q11.1-q11.2 18q11.1-q11.2 "FLJ13687|C18orf6" KIAA1772 "KIAA1772|growth regulation by estrogen in breast cancer 1 like" 2004-01-22 2009-09-08 2018-03-16 2023-01-20 80000 ENSG00000141449 OTTHUMG00000178892 uc010xam.2 AK023749 NM_024935 "CCDS92443|CCDS92442|CCDS45836" Q9C091 "11214970|28739660" MGI:3576497 RGD:1562371 617782 470408 HGNC:31042 "ENST00000424526.7|NM_001142966.3" HGNC:31042 HGNC:55323 GREB1L-DT GREB1L divergent transcript non-coding RNA RNA, long non-coding Approved 18q11.1 18q11.1 Divergent transcripts 1990 2020-10-21 2020-10-21 101927496 ENSG00000265984 NR_183512 -HGNC:2001 GREM1 gremlin 1, DAN family BMP antagonist protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "DRM|gremlin|DAND2|HMPS" "hereditary mixed polyposis syndrome|down-regulated in mos-transformed cells" "CKTSF1B1|CRAC1" "cysteine knot superfamily 1, BMP antagonist 1|gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)|gremlin 1|colorectal adenoma and carcinoma 1" DAN family 1246 1999-12-02 2004-05-07 2013-02-26 2023-01-20 26585 ENSG00000166923 OTTHUMG00000129319 uc001zhe.3 NM_013372 "CCDS10029|CCDS53927" O60565 "9660951|10026205|22561515|27385727" MGI:1344337 RGD:2359 LRG_1365|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1365.xml 603054 303758 ligandId:11768 HGNC:2001 "ENST00000651154.1|NM_013372.7" HGNC:2001 +HGNC:2001 GREM1 gremlin 1, DAN family BMP antagonist protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "DRM|gremlin|DAND2|HMPS" "hereditary mixed polyposis syndrome|down-regulated in mos-transformed cells" "CKTSF1B1|CRAC1" "cysteine knot superfamily 1, BMP antagonist 1|gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)|gremlin 1|colorectal adenoma and carcinoma 1" DAN family 1246 1999-12-02 2004-05-07 2013-02-26 2023-01-20 26585 ENSG00000166923 OTTHUMG00000129319 uc001zhe.3 NM_013372 "CCDS53927|CCDS10029" O60565 "9660951|10026205|22561515|27385727" MGI:1344337 RGD:2359 LRG_1365|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1365.xml 603054 303758 ligandId:11768 HGNC:2001 "ENST00000651154.1|NM_013372.7" HGNC:2001 HGNC:55411 GREM1-AS1 GREM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 Antisense RNAs 1987 2021-01-06 2021-01-06 100131315 ENSG00000259721 NR_109767 HGNC:17655 GREM2 gremlin 2, DAN family BMP antagonist protein-coding gene gene with protein product Approved 1q43 01q43 "Prdc|FLJ21195|CKTSF1B2|DAND3" protein related to DAN and cerberus "gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)|gremlin 2" DAN family 1246 2004-07-30 2013-02-26 2023-01-20 64388 ENSG00000180875 OTTHUMG00000039909 uc001hys.4 AK024848 NM_022469 CCDS31070 Q9H772 15039429 MGI:1344367 RGD:1560008 608832 HGNC:17655 "ENST00000318160.5|NM_022469.4" HGNC:27549 GREP1 glycine rich extracellular protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 G029442 glycine-rich extracellular protein 1 LINC00514 long intergenic non-protein coding RNA 514 2011-11-23 2021-01-22 2021-01-22 2022-05-10 283875 ENSG00000262152 AK098017 NM_001396456 "29757368|33510483" MGI:2443785 RGD:1307032 LINC00514 HGNC:27549 HGNC:17923 GRHL1 grainyhead like transcription factor 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "LBP-32|MGR" mammalian grainyhead TFCP2L2 "transcription factor CP2-like 2|grainyhead-like 1 (Drosophila)" 2004-01-05 2005-07-11 2016-01-11 2023-01-20 29841 ENSG00000134317 OTTHUMG00000151704 uc002raa.4 AF198489 NM_014552 CCDS33144 Q9NZI5 "10644752|12393799|12175488" MGI:2182540 RGD:1305735 609786 HGNC:17923 "ENST00000324907.14|NM_198182.3" -HGNC:2799 GRHL2 grainyhead like transcription factor 2 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "FLJ13782|BOM" brother-of-MGR "DFNA28|TFCP2L3" "deafness, autosomal dominant 28|transcription factor CP2-like 3|grainyhead-like 2 (Drosophila)" 1999-06-24 2005-07-11 2016-01-11 2023-01-20 79977 ENSG00000083307 OTTHUMG00000149915 uc010mbu.4 AK023844 NM_024915 "CCDS34931|CCDS83312" Q6ISB3 "12393799|23814079" MGI:2182543 RGD:1561191 608576 159507 HGNC:2799 "ENST00000646743.1|NM_024915.4" HGNC:2799 +HGNC:2799 GRHL2 grainyhead like transcription factor 2 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "FLJ13782|BOM" brother-of-MGR "DFNA28|TFCP2L3" "deafness, autosomal dominant 28|transcription factor CP2-like 3|grainyhead-like 2 (Drosophila)" 1999-06-24 2005-07-11 2016-01-11 2023-01-20 79977 ENSG00000083307 OTTHUMG00000149915 uc010mbu.4 AK023844 NM_024915 "CCDS83312|CCDS34931" Q6ISB3 "12393799|23814079" MGI:2182543 RGD:1561191 608576 159507 HGNC:2799 "ENST00000646743.1|NM_024915.4" HGNC:2799 HGNC:55466 GRHL2-DT GRHL2 divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 BX357664 Divergent transcripts 1990 2021-03-04 2021-03-04 107986962 "27806310|33090442" -HGNC:25839 GRHL3 grainyhead like transcription factor 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SOM sister-of-mammalian grainyhead TFCP2L4 "transcription factor CP2-like 4|grainyhead-like 3 (Drosophila)" 2004-06-25 2005-07-11 2016-01-11 2023-01-20 57822 ENSG00000158055 OTTHUMG00000003040 uc001bix.3 AY231161 NM_021180 "CCDS251|CCDS252|CCDS44088|CCDS53284" Q8TE85 "12549979|23685552" MGI:2655333 RGD:1308320 608317 390766 HGNC:25839 "ENST00000361548.9|NM_198173.3" HGNC:25839 +HGNC:25839 GRHL3 grainyhead like transcription factor 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SOM sister-of-mammalian grainyhead TFCP2L4 "transcription factor CP2-like 4|grainyhead-like 3 (Drosophila)" 2004-06-25 2005-07-11 2016-01-11 2023-01-20 57822 ENSG00000158055 OTTHUMG00000003040 uc001bix.3 AY231161 NM_021180 "CCDS44088|CCDS252|CCDS53284|CCDS251" Q8TE85 "12549979|23685552" MGI:2655333 RGD:1308320 608317 390766 HGNC:25839 "ENST00000361548.9|NM_198173.3" HGNC:25839 HGNC:41119 GRHL3-AS1 GRHL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Antisense RNAs 1987 2019-08-07 2019-08-07 105376871 ENSG00000232298 OTTHUMG00000003039 NR_183722 HGNC:41119 HGNC:4570 GRHPR glyoxylate and hydroxypyruvate reductase protein-coding gene gene with protein product Approved 9p13.2 09p13.2 PH2 primary hyperoxaluria type 2 GLXR "glyoxylate reductase/hydroxypyruvate reductase|glyoxylate reductase and hydroxypyruvate reductase" 1999-03-26 2016-07-21 2023-01-20 9380 ENSG00000137106 OTTHUMG00000019914 uc003zzu.2 AF134895 NM_012203 CCDS6609 Q9UBQ7 "10524214|10484776" MGI:1923488 RGD:1308851 604296 122278 "1.1.1.79|1.1.1.81" HGNC:4570 "ENST00000318158.11|NM_012203.2" HGNC:4570 -HGNC:4571 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "GluA1|GLURA" "Glutamate receptor 1|AMPA receptor subunit GluA1" GLUR1 glutamate receptor, ionotropic, AMPA 1 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-13 2016-02-05 2023-01-20 2890 ENSG00000155511 OTTHUMG00000130148 uc003luy.5 NM_000827 "CCDS58989|CCDS4322|CCDS47318|CCDS58987|CCDS58986|CCDS58988" P42261 "1652753|1319477|28628100" MGI:95808 RGD:621531 138248 objectId:444 HGNC:4571 "ENST00000285900.10|NM_000827.4" -HGNC:4572 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "GluA2|GLURB|GluR-K2|GluR-B|GluR-2" "Glutamate receptor 2|AMPA receptor subunit GluA2" GLUR2 glutamate receptor, ionotropic, AMPA 2 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-26 2016-02-05 2023-01-20 2891 ENSG00000120251 OTTHUMG00000133836 uc003ipl.5 NM_000826 "CCDS43274|CCDS43275|CCDS3797|CCDS93659" P42262 "1311100|36161652|31300657" MGI:95809 RGD:61862 138247 objectId:445 HGNC:4572 "ENST00000264426.14|NM_001083619.3" HGNC:4572 +HGNC:4571 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "GluA1|GLURA" "Glutamate receptor 1|AMPA receptor subunit GluA1" GLUR1 glutamate receptor, ionotropic, AMPA 1 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-13 2016-02-05 2023-01-20 2890 ENSG00000155511 OTTHUMG00000130148 uc003luy.5 NM_000827 "CCDS58988|CCDS58986|CCDS58989|CCDS58987|CCDS47318|CCDS4322" P42261 "1652753|1319477|28628100" MGI:95808 RGD:621531 138248 objectId:444 HGNC:4571 "ENST00000285900.10|NM_000827.4" +HGNC:4572 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "GluA2|GLURB|GluR-K2|GluR-B|GluR-2" "Glutamate receptor 2|AMPA receptor subunit GluA2" GLUR2 glutamate receptor, ionotropic, AMPA 2 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-26 2016-02-05 2023-01-20 2891 ENSG00000120251 OTTHUMG00000133836 uc003ipl.5 NM_000826 "CCDS43274|CCDS43275|CCDS93659|CCDS3797" P42262 "1311100|36161652|31300657" MGI:95809 RGD:61862 138247 objectId:445 HGNC:4572 "ENST00000264426.14|NM_001083619.3" HGNC:4572 HGNC:4573 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 protein-coding gene gene with protein product Approved Xq25 Xq25 "GluA3|GLURC|MRX94|GluR-3|GluR-C|GluR-K3|iGluR3" "Glutamate receptor 3|AMPA receptor subunit GluA3" GLUR3 glutamate receptor, ionotrophic, AMPA 3 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-26 2016-02-05 2023-01-20 2892 ENSG00000125675 OTTHUMG00000022685 uc033etl.2 U10301 NM_000828 "CCDS76017|CCDS14605|CCDS14604" P42263 "1319477|10644433|29016847" MGI:95810 RGD:70958 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GRIA3 305915 122282 objectId:446 HGNC:4573 "ENST00000620443.2|NM_007325.5" HGNC:4573 -HGNC:4574 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "GluA4|GLURD|GluR-4|GluR-D|GLUR4C" Glutamate receptor 4 GLUR4 glutamate receptor, ionotrophic, AMPA 4 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-26 2016-02-05 2023-01-20 2893 ENSG00000152578 OTTHUMG00000166236 uc001pix.2 U16129 NM_000829 "CCDS41706|CCDS41707|CCDS8333" P48058 29220673 MGI:95811 RGD:61863 138246 objectId:447 HGNC:4574 "ENST00000282499.10|NM_000829.4" HGNC:4574 +HGNC:4574 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "GluA4|GLURD|GluR-4|GluR-D|GLUR4C" Glutamate receptor 4 GLUR4 glutamate receptor, ionotrophic, AMPA 4 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-26 2016-02-05 2023-01-20 2893 ENSG00000152578 OTTHUMG00000166236 uc001pix.2 U16129 NM_000829 "CCDS41707|CCDS8333|CCDS41706" P48058 29220673 MGI:95811 RGD:61863 138246 objectId:447 HGNC:4574 "ENST00000282499.10|NM_000829.4" HGNC:4574 HGNC:4575 GRID1 glutamate ionotropic receptor delta type subunit 1 protein-coding gene gene with protein product Approved 10q23.1-q23.2 10q23.1-q23.2 "GluD1|KIAA1220" glutamate receptor, ionotropic, delta 1 "Glutamate ionotropic receptor delta type subunits|MicroRNA protein coding host genes" "1202|1691" 1997-10-21 2016-02-05 2023-01-20 2894 ENSG00000182771 OTTHUMG00000018650 uc001kdl.2 AB033046 NM_017551 CCDS31236 Q9ULK0 MGI:95812 RGD:68366 610659 objectId:448 HGNC:4575 "ENST00000327946.12|NM_017551.3" HGNC:44131 GRID1-AS1 GRID1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 GRID1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507470 ENSG00000234942 OTTHUMG00000184154 uc001kdk.3 AK097655 NR_038986 GRID1-AS1 HGNC:44131 HGNC:4576 GRID2 glutamate ionotropic receptor delta type subunit 2 protein-coding gene gene with protein product Approved 4q22.1-q22.2 04q22.1-q22.2 "GluD2|GluR-delta-2" glutamate receptor, ionotropic, delta 2 Glutamate ionotropic receptor delta type subunits 1202 1997-10-21 2016-02-05 2023-01-20 2895 ENSG00000152208 OTTHUMG00000130975 uc011cdt.4 AF009014 NM_001286838 "CCDS68758|CCDS3637" O43424 9465309 MGI:95813 RGD:68368 602368 365089 objectId:449 HGNC:4576 "ENST00000282020.9|NM_001510.4" HGNC:4576 -HGNC:18464 GRID2IP Grid2 interacting protein protein-coding gene gene with protein product Approved 7p22.1 07p22.1 delphilin "glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1|glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein" "PDZ domain containing|Formins" "1220|2006" 2005-01-20 2016-02-05 2023-01-20 392862 ENSG00000215045 OTTHUMG00000155531 uc011jwx.3 NM_001145118 "CCDS47537|CCDS94054" A4D2P6 14612983 MGI:2176213 RGD:1310492 610639 HGNC:18464 "ENST00000457091.3|NM_001145118.2" +HGNC:18464 GRID2IP Grid2 interacting protein protein-coding gene gene with protein product Approved 7p22.1 07p22.1 delphilin "glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1|glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein" "PDZ domain containing|Formins" "1220|2006" 2005-01-20 2016-02-05 2023-01-20 392862 ENSG00000215045 OTTHUMG00000155531 uc011jwx.3 NM_001145118 "CCDS94054|CCDS47537" A4D2P6 14612983 MGI:2176213 RGD:1310492 610639 HGNC:18464 "ENST00000457091.3|NM_001145118.2" HGNC:4577 GRIFIN galectin-related inter-fiber protein protein-coding gene gene with protein product Approved 7p22.3 07p22.3 1998-12-15 2023-01-20 402635 ENSG00000275572 OTTHUMG00000152042 uc064bae.1 NM_001394787 CCDS94046 A4D1Z8 "9786891|18087242" MGI:1925248 RGD:71055 619187 HGNC:4577 "ENST00000614228.2|NM_001394787.1" -HGNC:4579 GRIK1 glutamate ionotropic receptor kainate type subunit 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 GluK1 GLUR5 glutamate receptor, ionotropic, kainate 1 Glutamate ionotropic receptor kainate type subunits 1199 1992-02-26 2016-02-05 2023-01-20 2897 ENSG00000171189 OTTHUMG00000078879 uc002ynn.4 NM_000830 "CCDS82659|CCDS42913|CCDS93084|CCDS82658|CCDS82656|CCDS33530" P39086 8468067 MGI:95814 RGD:2732 138245 objectId:450 HGNC:4579 "ENST00000327783.9|NM_001330994.2" +HGNC:4579 GRIK1 glutamate ionotropic receptor kainate type subunit 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 GluK1 GLUR5 glutamate receptor, ionotropic, kainate 1 Glutamate ionotropic receptor kainate type subunits 1199 1992-02-26 2016-02-05 2023-01-20 2897 ENSG00000171189 OTTHUMG00000078879 uc002ynn.4 NM_000830 "CCDS33530|CCDS82656|CCDS82658|CCDS82659|CCDS42913|CCDS93084" P39086 8468067 MGI:95814 RGD:2732 138245 objectId:450 HGNC:4579 "ENST00000327783.9|NM_001330994.2" HGNC:16458 GRIK1-AS1 GRIK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 "C21orf9|NCRNA00110|GRIK1AS|GRIK1-AS" "chromosome 21 open reading frame 9|non-protein coding RNA 110|GRIK1 antisense RNA (non-protein coding)|GRIK1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2001-08-24 2010-11-25 2012-08-15 2016-10-05 642976 ENSG00000174680 OTTHUMG00000081875 uc011acu.3 AF107258 NR_027021 GRIK1-AS1 HGNC:16458 HGNC:1282 GRIK1-AS2 GRIK1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 "C21orf41|NCRNA00258" "chromosome 21 open reading frame 41|non-protein coding RNA 258|GRIK1 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2000-05-23 2011-08-11 2012-08-15 2020-04-20 100379661 AY081145 NR_033368 GRIK1-AS2 HGNC:1282 -HGNC:4580 GRIK2 glutamate ionotropic receptor kainate type subunit 2 protein-coding gene gene with protein product Approved 6q16.3 06q16.3 "GluK2|MRT6|GluR-6|EAA4|GLUK6" excitatory amino acid receptor 4‘ GLUR6 glutamate receptor, ionotropic, kainate 2 Glutamate ionotropic receptor kainate type subunits 1199 1992-02-26 2016-02-05 2023-01-25 2898 ENSG00000164418 OTTHUMG00000016328 uc003pqp.5 NM_001166247 "CCDS5049|CCDS5048|CCDS55045" Q13002 "8034316|34375587" MGI:95815 RGD:2733 138244 205590 objectId:451 HGNC:4580 "ENST00000369134.9|NM_021956.5" HGNC:4580 +HGNC:4580 GRIK2 glutamate ionotropic receptor kainate type subunit 2 protein-coding gene gene with protein product Approved 6q16.3 06q16.3 "GluK2|MRT6|GluR-6|EAA4|GLUK6" excitatory amino acid receptor 4‘ GLUR6 glutamate receptor, ionotropic, kainate 2 Glutamate ionotropic receptor kainate type subunits 1199 1992-02-26 2016-02-05 2023-01-25 2898 ENSG00000164418 OTTHUMG00000016328 uc003pqp.5 NM_001166247 "CCDS5049|CCDS55045|CCDS5048" Q13002 "8034316|34375587" MGI:95815 RGD:2733 138244 205590 objectId:451 HGNC:4580 "ENST00000369134.9|NM_021956.5" HGNC:4580 HGNC:4581 GRIK3 glutamate ionotropic receptor kainate type subunit 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "GluK3|GLUR7" glutamate receptor, ionotropic, kainate 3 Glutamate ionotropic receptor kainate type subunits 1199 1993-10-21 2016-02-05 2023-01-20 2899 ENSG00000163873 OTTHUMG00000004189 uc001caz.3 U16127 NM_000831 CCDS416 Q13003 8128318 MGI:95816 RGD:71027 138243 objectId:452 HGNC:4581 "ENST00000373091.8|NM_000831.4" HGNC:4582 GRIK4 glutamate ionotropic receptor kainate type subunit 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "GluK4|KA1" GRIK glutamate receptor, ionotropic, kainate 4 Glutamate ionotropic receptor kainate type subunits 1199 1993-07-29 2016-02-05 2023-01-20 2900 ENSG00000149403 OTTHUMG00000048255 uc001pxn.4 S67803 NM_014619 CCDS8433 Q16099 MGI:95817 RGD:2734 LRG_1012|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1012.xml 600282 objectId:453 HGNC:4582 "ENST00000527524.8|NM_014619.5" HGNC:4583 GRIK5 glutamate ionotropic receptor kainate type subunit 5 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "GluK5|KA2" GRIK2 glutamate receptor, ionotropic, kainate 5 Glutamate ionotropic receptor kainate type subunits 1199 1993-10-21 2016-02-05 2023-01-20 2901 ENSG00000105737 OTTHUMG00000044573 uc060zer.1 NM_001301030 "CCDS12595|CCDS77305" Q16478 7527545 MGI:95818 RGD:2735 600283 objectId:454 HGNC:4583 "ENST00000593562.6|NM_002088.5" -HGNC:4584 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 GluN1 NMDAR1 "N-methyl-D-aspartate receptor subunit NR1|glutamate receptor, ionotropic, N-methyl D-aspartate 1" Glutamate ionotropic receptor NMDA type subunits 1201 1992-09-18 2016-02-05 2023-01-20 2902 ENSG00000176884 OTTHUMG00000020976 uc004cln.4 NM_007327 "CCDS7032|CCDS55355|CCDS43910|CCDS7031|CCDS55354" Q05586 1350383 MGI:95819 RGD:2736 138249 282786 objectId:455 HGNC:4584 "ENST00000371561.8|NM_007327.4" HGNC:4584 +HGNC:4584 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 GluN1 NMDAR1 "N-methyl-D-aspartate receptor subunit NR1|glutamate receptor, ionotropic, N-methyl D-aspartate 1" Glutamate ionotropic receptor NMDA type subunits 1201 1992-09-18 2016-02-05 2023-01-20 2902 ENSG00000176884 OTTHUMG00000020976 uc004cln.4 NM_007327 "CCDS55354|CCDS43910|CCDS7031|CCDS7032|CCDS55355" Q05586 1350383 MGI:95819 RGD:2736 138249 282786 objectId:455 HGNC:4584 "ENST00000371561.8|NM_007327.4" HGNC:4584 HGNC:4585 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A protein-coding gene gene with protein product Approved 16p13.2 16p13.2 GluN2A NMDAR2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A Glutamate ionotropic receptor NMDA type subunits 1201 1992-09-18 2016-02-05 2023-01-20 2903 ENSG00000183454 OTTHUMG00000129721 uc010uym.3 NM_000833 Q12879 9480759 MGI:95820 RGD:2737 GRIN2A 138253 289276 objectId:456 HGNC:4585 "ENST00000330684.4|NM_001134407.3" HGNC:4585 HGNC:4586 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B protein-coding gene gene with protein product Approved 12p13.1 12p13.1 GluN2B NMDAR2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B Glutamate ionotropic receptor NMDA type subunits 1201 1992-09-18 2016-02-05 2023-01-20 2904 ENSG00000273079 OTTHUMG00000137373 uc001rbt.3 NM_000834 CCDS8662 Q13224 1350383 MGI:95821 RGD:2738 138252 266126 objectId:457 HGNC:4586 "ENST00000609686.4|NM_000834.5" HGNC:4586 -HGNC:4587 GRIN2C glutamate ionotropic receptor NMDA type subunit 2C protein-coding gene gene with protein product Approved 17q25.1 17q25.1 GluN2C NMDAR2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C Glutamate ionotropic receptor NMDA type subunits 1201 1992-09-18 2016-02-05 2023-01-20 2905 ENSG00000161509 OTTHUMG00000044524 uc002jlt.3 NM_000835 "CCDS62330|CCDS32724" Q14957 9480759 MGI:95822 RGD:2739 138254 objectId:458 HGNC:4587 "ENST00000293190.10|NM_000835.6" +HGNC:4587 GRIN2C glutamate ionotropic receptor NMDA type subunit 2C protein-coding gene gene with protein product Approved 17q25.1 17q25.1 GluN2C NMDAR2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C Glutamate ionotropic receptor NMDA type subunits 1201 1992-09-18 2016-02-05 2023-01-20 2905 ENSG00000161509 OTTHUMG00000044524 uc002jlt.3 NM_000835 "CCDS32724|CCDS62330" Q14957 9480759 MGI:95822 RGD:2739 138254 objectId:458 HGNC:4587 "ENST00000293190.10|NM_000835.6" HGNC:4588 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "GluN2D|EB11|NR2D" N-methyl-d-aspartate receptor subunit 2D NMDAR2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D Glutamate ionotropic receptor NMDA type subunits 1201 1993-07-29 2016-02-05 2023-01-20 2906 ENSG00000105464 OTTHUMG00000183304 uc002pjc.4 U77783 NM_000836 CCDS12719 O15399 "9480759|9418891" MGI:95823 RGD:2740 602717 469057 objectId:459 HGNC:4588 "ENST00000263269.4|NM_000836.4" HGNC:4588 HGNC:16767 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A protein-coding gene gene with protein product Approved 9q31.1 09q31.1 GluN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A Glutamate ionotropic receptor NMDA type subunits 1201 2001-10-05 2016-02-05 2023-01-20 116443 ENSG00000198785 OTTHUMG00000020387 uc004bbp.3 NM_133445 CCDS6758 Q8TCU5 MGI:1933206 RGD:621704 606650 objectId:460 HGNC:16767 "ENST00000361820.6|NM_133445.3" HGNC:16768 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 GluN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B Glutamate ionotropic receptor NMDA type subunits 1201 2001-10-05 2016-02-05 2023-01-20 116444 ENSG00000116032 OTTHUMG00000181904 uc002lqo.2 NM_138690 CCDS32861 O60391 MGI:2150393 RGD:621705 606651 470410 objectId:461 HGNC:16768 "ENST00000234389.3|NM_138690.3" HGNC:4589 GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "HNRGW|TMBIM3|LFG1" "transmembrane BAX inhibitor motif containing 3|lifeguard 1" NMDARA1 glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) Transmembrane BAX inhibitor motif containing 1215 1992-12-15 2016-02-05 2023-01-20 2907 ENSG00000178719 OTTHUMG00000165433 uc003zao.1 NM_001009184 CCDS34961 Q7Z429 "1719427|8406459" MGI:1913418 RGD:628873 138251 HGNC:4589 "ENST00000395068.9|NM_001009184.2" -HGNC:18708 GRIP1 glutamate receptor interacting protein 1 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 PDZ domain containing 1220 2002-05-29 2023-01-20 23426 ENSG00000155974 OTTHUMG00000169019 uc001stk.4 AJ133439 NM_001178074 "CCDS91722|CCDS41807" Q9Y3R0 10197531 MGI:1921303 RGD:621667 604597 303028 HGNC:18708 "ENST00000359742.9|NM_001366722.1" HGNC:18708 +HGNC:18708 GRIP1 glutamate receptor interacting protein 1 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 PDZ domain containing 1220 2002-05-29 2023-01-20 23426 ENSG00000155974 OTTHUMG00000169019 uc001stk.4 AJ133439 NM_001178074 "CCDS41807|CCDS91722" Q9Y3R0 10197531 MGI:1921303 RGD:621667 604597 303028 HGNC:18708 "ENST00000359742.9|NM_001366722.1" HGNC:18708 HGNC:23841 GRIP2 glutamate receptor interacting protein 2 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 KIAA1719 PDZ domain containing 1220 2003-12-15 2023-01-20 80852 ENSG00000144596 OTTHUMG00000155544 uc032rfi.1 AB051506 NM_001080423 CCDS46766 Q9C0E4 MGI:2681173 RGD:621668 HGNC:23841 "ENST00000621039.5|NM_001080423.4" HGNC:18706 GRIPAP1 GRIP1 associated protein 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "GRASP-1|GRASP1|KIAA1167|MPMGp800B12492Q3|DKFZp434P0630" 2002-05-30 2023-03-15 56850 ENSG00000068400 OTTHUMG00000033192 uc033ecr.2 AB032993 NM_207672 CCDS35248 Q4V328 10896157 MGI:1859616 RGD:621249 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GRIPAP1 300408 HGNC:18706 "ENST00000376423.8|NM_020137.5" HGNC:10013 GRK1 G protein-coupled receptor kinase 1 protein-coding gene gene with protein product Approved 13q34 13q34 "GPRK1|RK" RHOK rhodopsin kinase AGC family kinases 1625 1994-07-21 2004-03-24 2004-03-23 2023-01-20 6011 ENSG00000185974 OTTHUMG00000185528 uc010tkf.3 NM_002929 CCDS81785 Q15835 "8812493|15057823" MGI:1345146 RGD:619712 Mutations of the Rhodopsin Kinase Gene|http://www.retina-international.org/files/sci-news/rhokmut.htm 180381 122286 objectId:1465 2.7.11.14 HGNC:10013 "ENST00000335678.7|NM_002929.3" HGNC:10013 HGNC:289 GRK2 G protein-coupled receptor kinase 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 BARK1 ADRBK1 adrenergic, beta, receptor kinase 1 "Pleckstrin homology domain containing|AGC family kinases" "682|1625" 1992-03-25 2016-05-16 2016-05-16 2023-01-20 156 ENSG00000173020 OTTHUMG00000167104 uc009yrn.2 X61157 NM_001619 CCDS8156 P25098 2037065 MGI:87940 RGD:2062 109635 objectId:1466 2.7.11.15 HGNC:289 "ENST00000308595.10|NM_001619.5" HGNC:290 GRK3 G protein-coupled receptor kinase 3 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 BARK2 ADRBK2 adrenergic, beta, receptor kinase 2 "Pleckstrin homology domain containing|AGC family kinases" "682|1625" 1992-03-25 2016-05-16 2016-05-16 2023-01-20 157 ENSG00000100077 OTTHUMG00000150280 uc003abx.5 X69117 NM_005160 CCDS13832 P35626 7695743 MGI:87941 RGD:2063 109636 objectId:1467 2.7.11.15 HGNC:290 "ENST00000324198.11|NM_005160.4" HGNC:55679 GRK3-AS1 GRK3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Antisense RNAs 1987 2021-07-01 2021-07-01 100996404 ENSG00000234884 NR_183556 -HGNC:4543 GRK4 G protein-coupled receptor kinase 4 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 GPRK4 GPRK2L G protein-coupled receptor kinase 2-like (Drosophila) AGC family kinases 1625 1993-10-14 2004-02-06 2004-02-04 2023-01-20 2868 ENSG00000125388 OTTHUMG00000159914 uc003ggn.2 NM_005307 "CCDS68656|CCDS33947|CCDS33946|CCDS47002" P32298 1338872 MGI:95801 RGD:61858 137026 objectId:1468 HGNC:4543 "ENST00000398052.9|NM_182982.3" +HGNC:4543 GRK4 G protein-coupled receptor kinase 4 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 GPRK4 GPRK2L G protein-coupled receptor kinase 2-like (Drosophila) AGC family kinases 1625 1993-10-14 2004-02-06 2004-02-04 2023-01-20 2868 ENSG00000125388 OTTHUMG00000159914 uc003ggn.2 NM_005307 "CCDS47002|CCDS68656|CCDS33946|CCDS33947" P32298 1338872 MGI:95801 RGD:61858 137026 objectId:1468 HGNC:4543 "ENST00000398052.9|NM_182982.3" HGNC:4544 GRK5 G protein-coupled receptor kinase 5 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 GPRK5 "AGC family kinases|MicroRNA protein coding host genes" "1625|1691" 1994-03-29 2004-02-06 2004-02-04 2023-01-20 2869 ENSG00000198873 OTTHUMG00000019149 uc001led.4 L15388 NM_005308 CCDS7612 P34947 7685906 MGI:109161 RGD:61985 600870 objectId:1469 HGNC:4544 "ENST00000392870.3|NM_005308.3" HGNC:49478 GRK5-IT1 GRK5 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 10q26.11 10q26.11 GRK5 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2013-12-20 2015-02-25 2015-02-25 101927868 ENSG00000228485 OTTHUMG00000019145 XR_246196 GRK5-IT1 HGNC:49478 HGNC:4545 GRK6 G protein-coupled receptor kinase 6 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 GPRK6 AGC family kinases 1625 1994-03-29 2004-02-06 2004-02-04 2023-03-15 2870 ENSG00000198055 OTTHUMG00000163401 uc063kea.1 NM_002082 "CCDS34303|CCDS43406" P43250 8415712 MGI:1347078 RGD:61986 600869 objectId:1470 HGNC:4545 "ENST00000355472.10|NM_001004106.3" HGNC:4547 GRK6P1 G protein-coupled receptor kinase 6 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 "GPRK6L|GPRK6P|GRK6PS" G protein-coupled receptor kinase 6 pseudogene 1997-04-25 2011-01-14 2011-01-14 2011-02-07 2871 ENSG00000215571 OTTHUMG00000016540 U48958 NR_144554 9016947 PGOHUM00000248520 HGNC:4547 HGNC:17031 GRK7 G protein-coupled receptor kinase 7 protein-coding gene gene with protein product Approved 3q23 03q23 GPRK7 AGC family kinases 1625 2002-05-27 2004-02-04 2004-02-04 2023-01-20 131890 ENSG00000114124 OTTHUMG00000159068 uc011bnd.3 NM_139209 CCDS3120 Q8WTQ7 "11717351|11754336" 606987 objectId:1471 HGNC:17031 "ENST00000682958.1|NM_139209.3" -HGNC:4593 GRM1 glutamate metabotropic receptor 1 protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "GPRC1A|mGlu1|MGLUR1|PPP1R85" protein phosphatase 1, regulatory subunit 85 glutamate receptor, metabotropic 1 "Glutamate metabotropic receptors|Protein phosphatase 1 regulatory subunits" "281|694" 1993-10-21 2016-04-06 2023-01-20 2911 ENSG00000152822 OTTHUMG00000015752 uc032xoi.2 U31215 NM_000838 "CCDS64548|CCDS47497|CCDS5209" Q13255 "9076744|9376535" MGI:1351338 RGD:2742 604473 327283 objectId:289 HGNC:4593 "ENST00000282753.6|NM_001278064.2" HGNC:4593 +HGNC:4593 GRM1 glutamate metabotropic receptor 1 protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "GPRC1A|mGlu1|MGLUR1|PPP1R85" protein phosphatase 1, regulatory subunit 85 glutamate receptor, metabotropic 1 "Glutamate metabotropic receptors|Protein phosphatase 1 regulatory subunits" "281|694" 1993-10-21 2016-04-06 2023-01-20 2911 ENSG00000152822 OTTHUMG00000015752 uc032xoi.2 U31215 NM_000838 "CCDS47497|CCDS64548|CCDS5209" Q13255 "9076744|9376535" MGI:1351338 RGD:2742 604473 327283 objectId:289 HGNC:4593 "ENST00000282753.6|NM_001278064.2" HGNC:4593 HGNC:4594 GRM2 glutamate metabotropic receptor 2 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "GPRC1B|mGlu2|MGLUR2" glutamate receptor, metabotropic 2 Glutamate metabotropic receptors 281 1993-10-21 2016-04-06 2023-01-20 2912 ENSG00000164082 OTTHUMG00000156902 uc010hlv.4 L35318 NM_000839 CCDS2834 Q14416 7620613 MGI:1351339 RGD:2743 604099 objectId:290 HGNC:4594 "ENST00000395052.8|NM_000839.5" HGNC:4595 GRM3 glutamate metabotropic receptor 3 protein-coding gene gene with protein product Approved 7q21.11-q21.12 07q21.11-q21.12 "GPRC1C|mGlu3|MGLUR3" glutamate receptor, metabotropic 3 Glutamate metabotropic receptors 281 1993-10-21 2016-04-06 2023-01-20 2913 ENSG00000198822 OTTHUMG00000022884 uc003uid.4 NM_000840 "CCDS87515|CCDS5600" Q14832 8824806 MGI:1351340 RGD:2744 601115 objectId:291 HGNC:4595 "ENST00000361669.7|NM_000840.3" HGNC:40264 GRM3-AS1 GRM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.12 07q21.12 Antisense RNAs 1987 2019-08-07 2019-08-07 112268007 ENSG00000233073 OTTHUMG00000153975 HGNC:40264 -HGNC:4596 GRM4 glutamate metabotropic receptor 4 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "GPRC1D|mGlu4|MGLUR4" glutamate receptor, metabotropic 4 Glutamate metabotropic receptors 281 1993-10-21 2016-04-06 2023-03-15 2914 ENSG00000124493 OTTHUMG00000014538 uc010jvh.6 U92457 NM_000841 "CCDS75432|CCDS59012|CCDS4787|CCDS59010|CCDS59011" Q14833 "8738157|9473604" MGI:1351341 RGD:2745 604100 objectId:292 HGNC:4596 "ENST00000538487.7|NM_000841.4" +HGNC:4596 GRM4 glutamate metabotropic receptor 4 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "GPRC1D|mGlu4|MGLUR4" glutamate receptor, metabotropic 4 Glutamate metabotropic receptors 281 1993-10-21 2016-04-06 2023-03-15 2914 ENSG00000124493 OTTHUMG00000014538 uc010jvh.6 U92457 NM_000841 "CCDS75432|CCDS59010|CCDS4787|CCDS59011|CCDS59012" Q14833 "8738157|9473604" MGI:1351341 RGD:2745 604100 objectId:292 HGNC:4596 "ENST00000538487.7|NM_000841.4" HGNC:4597 GRM5 glutamate metabotropic receptor 5 protein-coding gene gene with protein product Approved 11q14.2-q14.3 11q14.2-q14.3 "MGLUR5|GPRC1E|mGlu5|PPP1R86" protein phosphatase 1, regulatory subunit 86 glutamate receptor, metabotropic 5 "Glutamate metabotropic receptors|Protein phosphatase 1 regulatory subunits" "281|694" 1993-10-22 2016-04-06 2023-01-20 2915 ENSG00000168959 OTTHUMG00000134306 uc009yvm.3 D28538 NM_000842 "CCDS8283|CCDS44694" P41594 7908515 MGI:1351342 RGD:2746 604102 objectId:293 HGNC:4597 "ENST00000305447.5|NM_001143831.3" HGNC:40265 GRM5-AS1 GRM5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 GRM5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100873989 ENSG00000255082 OTTHUMG00000167293 uc031qdb.1 NR_049724 GRM5-AS1 HGNC:40265 HGNC:55419 GRM5P1 GRM5 pseudogene 1 pseudogene pseudogene Approved 11p11.12 11p11.12 2021-01-07 2021-01-07 440040 ENSG00000205035 NR_027044 29066914 @@ -10856,7 +10857,7 @@ HGNC:42444 GRM7-AS3 GRM7 antisense RNA 3 non-coding RNA RNA, long non-coding App HGNC:4600 GRM8 glutamate metabotropic receptor 8 protein-coding gene gene with protein product Approved 7q31.33 07q31.33 "GLUR8|GPRC1H|mGlu8|MGLUR8" glutamate receptor, metabotropic 8 "Glutamate metabotropic receptors|MicroRNA protein coding host genes" "281|1691" 1995-10-11 2016-04-06 2023-01-20 2918 ENSG00000179603 OTTHUMG00000022888 uc003vlr.3 NM_000845 "CCDS5794|CCDS47696" O00222 8824806 MGI:1351345 RGD:619858 601116 470412 objectId:296 HGNC:4600 "ENST00000339582.7|NM_000845.3" HGNC:40268 GRM8-AS1 GRM8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.33 07q31.33 Antisense RNAs 1987 2019-08-07 2019-08-07 101928333 ENSG00000236340 OTTHUMG00000063970 NR_110194 HGNC:40268 HGNC:4601 GRN granulin precursor protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "PCDGF|PGRN|CLN11" progranulin 1992-11-30 2016-10-05 2023-01-20 2896 ENSG00000030582 OTTHUMG00000181816 uc002igp.3 M75161 NM_002087 CCDS11483 P28799 "1417868|9826678" MGI:95832 RGD:61983 LRG_661|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_661.xml 138945 168073 HGNC:4601 "ENST00000053867.8|NM_002087.4" HGNC:4601 -HGNC:4605 GRP gastrin releasing peptide protein-coding gene gene with protein product Approved 18q21.32 18q21.32 "bombesin|neuromedin C|prepro-GRP" gastrin-releasing peptide Neuropeptides 1902 1986-01-01 2016-02-01 2023-01-20 2922 ENSG00000134443 OTTHUMG00000132760 uc002lhv.4 NM_002091 "CCDS45877|CCDS11971|CCDS45878" P07492 MGI:95833 RGD:621740 137260 ligandId:612 HGNC:4605 "ENST00000256857.7|NM_002091.5" +HGNC:4605 GRP gastrin releasing peptide protein-coding gene gene with protein product Approved 18q21.32 18q21.32 "bombesin|neuromedin C|prepro-GRP" gastrin-releasing peptide Neuropeptides 1902 1986-01-01 2016-02-01 2023-01-20 2922 ENSG00000134443 OTTHUMG00000132760 uc002lhv.4 NM_002091 "CCDS11971|CCDS45877|CCDS45878" P07492 MGI:95833 RGD:621740 137260 ligandId:612 HGNC:4605 "ENST00000256857.7|NM_002091.5" HGNC:19696 GRPEL1 GrpE like 1, mitochondrial protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "FLJ25609|GrpE|hMGE" GrpE-like 1, mitochondrial (E. coli) TIM23 complex 1552 2003-05-12 2016-01-22 2023-01-20 80273 ENSG00000109519 OTTHUMG00000090495 uc003gjy.2 AF070525 NM_025196 CCDS3396 Q9HAV7 "11311562|12840016" MGI:1334417 RGD:70947 606173 HGNC:19696 "ENST00000264954.5|NM_025196.4" HGNC:21060 GRPEL2 GrpE like 2, mitochondrial protein-coding gene gene with protein product Approved 5q32 05q32 "DKFZp451C205|Mt-GrpE#2|FLJ23713" GrpE-like 2, mitochondrial (E. coli) 2003-07-01 2016-01-22 2023-01-20 134266 ENSG00000164284 OTTHUMG00000130048 uc003lqj.4 AL832325 NM_152407 CCDS4295 Q8TAA5 9694873 MGI:1334416 RGD:1585231 618545 HGNC:21060 "ENST00000329271.8|NM_152407.4" HGNC:48999 GRPEL2-AS1 GRPEL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q32 05q32 RP11-394O4.4 Antisense RNAs 1987 2013-07-30 2015-08-07 2021-03-24 106144529 ENSG00000253618 OTTHUMG00000165071 AI857303 NR_132366 GRPEL2-AS1 HGNC:48999 @@ -10864,8 +10865,8 @@ HGNC:41969 GRPEL2P1 GRPEL2 pseudogene 1 pseudogene pseudogene Approved 13q31.2 1 HGNC:41970 GRPEL2P2 GRPEL2 pseudogene 2 pseudogene pseudogene Approved Xq11.2 Xq11.2 "GrpE-like 2, mitochondrial (E. coli) pseudogene 2|GrpE like 2, mitochondrial pseudogene 2" 2011-05-24 2019-01-21 2019-01-21 100129994 ENSG00000225814 OTTHUMG00000021710 NG_022604 PGOHUM00000241352 HGNC:41970 HGNC:41971 GRPEL2P3 GRPEL2 pseudogene 3 pseudogene pseudogene Approved 7q21.3 07q21.3 "GrpE-like 2, mitochondrial (E. coli) pseudogene 3|GrpE like 2, mitochondrial pseudogene 3" 2011-05-24 2019-01-21 2019-01-21 100129871 ENSG00000230682 OTTHUMG00000155561 NG_022570 PGOHUM00000233474 HGNC:41971 HGNC:4609 GRPR gastrin releasing peptide receptor protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "BB2|BB2R|BRS2" bombesin receptor 2 Bombesin receptors 222 1991-08-06 2015-11-18 2023-01-20 2925 ENSG00000126010 OTTHUMG00000021189 uc004cxj.4 NM_005314 CCDS14174 P30550 MGI:95836 RGD:2750 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GRPR 305670 objectId:39 HGNC:4609 "ENST00000380289.3|NM_005314.3" -HGNC:4610 GRSF1 G-rich RNA sequence binding factor 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 RNA binding motif containing 725 1995-11-29 2023-01-20 2926 ENSG00000132463 OTTHUMG00000160846 uc010iia.2 BC040485 NM_002092 "CCDS47070|CCDS47069" Q12849 8036161 MGI:106479 RGD:1310858 604851 HGNC:4610 "ENST00000254799.11|NM_002092.4" -HGNC:20310 GRTP1 growth hormone regulated TBC protein 1 protein-coding gene gene with protein product Approved 13q34 13q34 "FLJ22474|TBC1D6" 2003-01-24 2023-01-20 79774 ENSG00000139835 OTTHUMG00000017381 uc001vtn.5 AK026127 NM_024719 "CCDS73606|CCDS91839|CCDS9534|CCDS66591" Q5TC63 11564724 MGI:1914040 RGD:1309210 HGNC:20310 "ENST00000375431.9|NM_024719.4" +HGNC:4610 GRSF1 G-rich RNA sequence binding factor 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 RNA binding motif containing 725 1995-11-29 2023-01-20 2926 ENSG00000132463 OTTHUMG00000160846 uc010iia.2 BC040485 NM_002092 "CCDS47069|CCDS47070" Q12849 8036161 MGI:106479 RGD:1310858 604851 HGNC:4610 "ENST00000254799.11|NM_002092.4" +HGNC:20310 GRTP1 growth hormone regulated TBC protein 1 protein-coding gene gene with protein product Approved 13q34 13q34 "FLJ22474|TBC1D6" 2003-01-24 2023-01-20 79774 ENSG00000139835 OTTHUMG00000017381 uc001vtn.5 AK026127 NM_024719 "CCDS9534|CCDS73606|CCDS91839|CCDS66591" Q5TC63 11564724 MGI:1914040 RGD:1309210 HGNC:20310 "ENST00000375431.9|NM_024719.4" HGNC:39917 GRTP1-AS1 GRTP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 GRTP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874068 ENSG00000225083 OTTHUMG00000017382 uc058ymx.1 NR_046541 GRTP1-AS1 HGNC:39917 HGNC:21270 GRWD1 glutamate rich WD repeat containing 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "WDR28|GRWD|RRB1" WD repeat domain containing 362 2003-10-15 2016-06-06 2023-01-20 83743 ENSG00000105447 OTTHUMG00000183305 uc002pjd.3 AF337808 NM_031485 CCDS12720 Q9BQ67 15885502 MGI:2141989 RGD:1310649 610597 HGNC:21270 "ENST00000253237.10|NM_031485.4" HGNC:31673 GRXCR1 glutaredoxin and cysteine rich domain containing 1 protein-coding gene gene with protein product Approved 4p13 04p13 PPP1R88 protein phosphatase 1, regulatory subunit 88 DFNB25 "deafness, autosomal recessive 25|glutaredoxin, cysteine rich 1" "Protein phosphatase 1 regulatory subunits|Glutaredoxin domain containing" "694|1468" 2008-07-04 2016-02-29 2023-01-20 389207 ENSG00000215203 OTTHUMG00000160434 uc003gwt.4 NM_001080476 CCDS43225 A8MXD5 20137778 MGI:3577767 RGD:1564635 613283 225329 HGNC:31673 "ENST00000399770.3|NM_001080476.3" HGNC:31673 @@ -10876,28 +10877,28 @@ HGNC:4612 GSC goosecoid homeobox protein-coding gene gene with protein product A HGNC:53074 GSC-DT GSC divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.13 14q32.13 DIGIT divergent to GSC, induced by TGF-beta family signaling Divergent transcripts 1990 2018-06-27 2018-06-27 108868751 NR_144432 27705785 HGNC:53074 HGNC:4613 GSC2 goosecoid homeobox 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 GSCL goosecoid-like PRD class homeoboxes and pseudogenes 521 1997-06-18 2007-08-28 2007-08-28 2023-01-20 2928 ENSG00000063515 OTTHUMG00000150122 uc011ags.3 NM_005315 CCDS13757 O15499 9150167 MGI:892006 RGD:1305333 601845 8554 HGNC:4613 "ENST00000086933.3|NM_005315.2" HGNC:13311 GSDMA gasdermin A protein-coding gene gene with protein product Approved 17q21.1 17q21.1 FLJ39120 "GSDM|GSDM1" "gasdermin|gasdermin 1" Gasdermins 1529 2003-12-01 2008-07-31 2008-07-31 2023-01-20 284110 ENSG00000167914 OTTHUMG00000179522 uc002htl.1 AB093591 NM_178171 CCDS45669 Q96QA5 "12883658|15010812|17350798" "MGI:1889509|MGI:1921490|MGI:3044668" RGD:1592062 611218 HGNC:13311 "ENST00000301659.9|NM_178171.5" -HGNC:23690 GSDMB gasdermin B protein-coding gene gene with protein product Approved 17q21.1 17q21.1 PRO2521 GSDML gasdermin-like Gasdermins 1529 2003-12-09 2008-07-31 2008-07-31 2023-01-20 55876 ENSG00000073605 OTTHUMG00000133248 uc002htg.3 AF119884 NM_018530 "CCDS11354|CCDS42313|CCDS54119|CCDS54120" Q8TAX9 "12883658|15010812|17350798" 611221 HGNC:23690 "ENST00000418519.6|NM_001165958.2" +HGNC:23690 GSDMB gasdermin B protein-coding gene gene with protein product Approved 17q21.1 17q21.1 PRO2521 GSDML gasdermin-like Gasdermins 1529 2003-12-09 2008-07-31 2008-07-31 2023-01-20 55876 ENSG00000073605 OTTHUMG00000133248 uc002htg.3 AF119884 NM_018530 "CCDS54120|CCDS54119|CCDS11354|CCDS42313" Q8TAX9 "12883658|15010812|17350798" 611221 HGNC:23690 "ENST00000418519.6|NM_001165958.2" HGNC:7151 GSDMC gasdermin C protein-coding gene gene with protein product Approved 8q24.21 08q24.21 MLZE melanoma-derived leucine zipper, extra-nuclear factor Gasdermins 1529 2000-06-16 2008-07-31 2008-07-31 2023-01-20 56169 ENSG00000147697 OTTHUMG00000164851 uc003ysr.3 AB042405 NM_031415 CCDS6360 Q9BYG8 17350798 "MGI:1933176|MGI:2146102|MGI:3580656|MGI:1921798" RGD:1308989 608384 HGNC:7151 "ENST00000276708.9|NM_031415.3" HGNC:25697 GSDMD gasdermin D protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FLJ12150|DF5L" GSDMDC1 gasdermin domain containing 1 Gasdermins 1529 2004-05-21 2008-07-31 2008-07-31 2023-01-20 79792 ENSG00000104518 OTTHUMG00000165132 uc010mfe.4 AK096216 NM_024736 CCDS34956 P57764 "15289881|17350798" MGI:1916396 RGD:1307261 617042 HGNC:25697 "ENST00000262580.9|NM_024736.7" -HGNC:2810 GSDME gasdermin E protein-coding gene gene with protein product Approved 7p15.3 07p15.3 ICERE-1 inversely correlated with estrogen receptor expression DFNA5 "deafness, autosomal dominant 5|DFNA5, deafness associated tumor suppressor" Gasdermins 1529 1995-09-11 2017-08-18 2017-08-18 2023-01-20 1687 ENSG00000105928 OTTHUMG00000023237 uc003sxa.2 AF007790 NM_004403 "CCDS5389|CCDS47563" O60443 "8589696|9450185|26236191" MGI:1889850 RGD:727871 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_1428|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1428.xml" 608798 121056 HGNC:2810 "ENST00000645220.1|NM_001127453.2" HGNC:2810 -HGNC:28979 GSE1 Gse1 coiled-coil protein protein-coding gene gene with protein product Approved 16q24.1 16q24.1 genetic suppressor element 1 KIAA0182 "KIAA0182|Gse1 coiled-coil protein homolog (mouse)" 2006-02-22 2012-10-02 2012-12-07 2023-01-20 23199 ENSG00000131149 OTTHUMG00000137650 uc002fix.5 D80004 NM_014615 "CCDS62007|CCDS45539|CCDS10952" Q14687 "8724849|8786132" MGI:1098275 RGD:1562686 616886 470414 HGNC:28979 "ENST00000253458.12|NM_014615.5" +HGNC:2810 GSDME gasdermin E protein-coding gene gene with protein product Approved 7p15.3 07p15.3 ICERE-1 inversely correlated with estrogen receptor expression DFNA5 "deafness, autosomal dominant 5|DFNA5, deafness associated tumor suppressor" Gasdermins 1529 1995-09-11 2017-08-18 2017-08-18 2023-01-20 1687 ENSG00000105928 OTTHUMG00000023237 uc003sxa.2 AF007790 NM_004403 "CCDS47563|CCDS5389" O60443 "8589696|9450185|26236191" MGI:1889850 RGD:727871 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_1428|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1428.xml" 608798 121056 HGNC:2810 "ENST00000645220.1|NM_001127453.2" HGNC:2810 +HGNC:28979 GSE1 Gse1 coiled-coil protein protein-coding gene gene with protein product Approved 16q24.1 16q24.1 genetic suppressor element 1 KIAA0182 "KIAA0182|Gse1 coiled-coil protein homolog (mouse)" 2006-02-22 2012-10-02 2012-12-07 2023-01-20 23199 ENSG00000131149 OTTHUMG00000137650 uc002fix.5 D80004 NM_014615 "CCDS10952|CCDS62007|CCDS45539" Q14687 "8724849|8786132" MGI:1098275 RGD:1562686 616886 470414 HGNC:28979 "ENST00000253458.12|NM_014615.5" HGNC:48645 GSEC G-quadruplex forming sequence containing lncRNA non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 "DCPS-AS1|FLJ39051" ST3GAL4-AS1 ST3GAL4 antisense RNA 1 (head to head) Long non-coding RNAs with non-systematic symbols 1992 2013-05-31 2017-02-16 2017-02-16 2017-02-16 399972 ENSG00000280832 OTTHUMG00000189590 NR_033839 27797375 HGNC:48645 -HGNC:19716 GSG1 germ cell associated 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 MGC3146 2002-11-15 2023-03-15 83445 ENSG00000111305 OTTHUMG00000150148 uc001rbj.4 BC001796 NM_031289 "CCDS44835|CCDS55806|CCDS8659|CCDS55808|CCDS44836|CCDS55807|CCDS91657" Q2KHT4 MGI:1194499 RGD:1306546 HGNC:19716 "ENST00000651961.1|NM_001080555.4" -HGNC:28283 GSG1L GSG1 like protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "MGC18079|PRO19651|KTSR5831" 2006-07-04 2016-06-30 2023-01-20 146395 ENSG00000169181 OTTHUMG00000131676 uc002doy.3 AK128775 NM_144675 "CCDS10631|CCDS81960|CCDS45450" Q6UXU4 "22813734|26932439" MGI:2685483 RGD:1562278 617161 HGNC:28283 "ENST00000447459.7|NM_001109763.2" +HGNC:19716 GSG1 germ cell associated 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 MGC3146 2002-11-15 2023-03-15 83445 ENSG00000111305 OTTHUMG00000150148 uc001rbj.4 BC001796 NM_031289 "CCDS44836|CCDS55806|CCDS91657|CCDS44835|CCDS8659|CCDS55807|CCDS55808" Q2KHT4 MGI:1194499 RGD:1306546 HGNC:19716 "ENST00000651961.1|NM_001080555.4" +HGNC:28283 GSG1L GSG1 like protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "MGC18079|PRO19651|KTSR5831" 2006-07-04 2016-06-30 2023-01-20 146395 ENSG00000169181 OTTHUMG00000131676 uc002doy.3 AK128775 NM_144675 "CCDS81960|CCDS45450|CCDS10631" Q6UXU4 "22813734|26932439" MGI:2685483 RGD:1562278 617161 HGNC:28283 "ENST00000447459.7|NM_001109763.2" HGNC:51826 GSG1L2 GSG1 like 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 2015-07-08 2016-06-30 2023-01-20 644070 ENSG00000214978 OTTHUMG00000178429 NM_001310219 CCDS82072 A8MUP6 MGI:3650209 RGD:9156678 HGNC:51826 "ENST00000399363.5|NM_001310219.2" HGNC:4616 GSK3A glycogen synthase kinase 3 alpha protein-coding gene gene with protein product Approved 19q13.2 19q13.2 1997-05-15 2023-01-20 2931 ENSG00000105723 OTTHUMG00000150722 uc002otb.2 NM_019884 CCDS12599 P49840 9809441 MGI:2152453 RGD:620351 606784 objectId:2029 HGNC:4616 "ENST00000222330.8|NM_019884.3" -HGNC:4617 GSK3B glycogen synthase kinase 3 beta protein-coding gene gene with protein product Approved 3q13.33 03q13.33 1997-05-15 2023-01-20 2932 ENSG00000082701 OTTHUMG00000133765 uc003edn.4 BC012760 NM_001146156 "CCDS93346|CCDS54628|CCDS2996" P49841 10486203 MGI:1861437 RGD:70982 605004 objectId:2030 HGNC:4617 "ENST00000264235.13|NM_001146156.2" +HGNC:4617 GSK3B glycogen synthase kinase 3 beta protein-coding gene gene with protein product Approved 3q13.33 03q13.33 1997-05-15 2023-01-20 2932 ENSG00000082701 OTTHUMG00000133765 uc003edn.4 BC012760 NM_001146156 "CCDS54628|CCDS2996|CCDS93346" P49841 10486203 MGI:1861437 RGD:70982 605004 objectId:2030 HGNC:4617 "ENST00000264235.13|NM_001146156.2" HGNC:55635 GSK3B-DT GSK3B divergent transcript non-coding RNA RNA, long non-coding Approved 3q13.33 03q13.33 Divergent transcripts 1990 2021-06-24 2021-06-24 107986119 ENSG00000242622 HGNC:20343 GSKIP GSK3B interacting protein protein-coding gene gene with protein product Approved 14q32.2 14q32.2 GSK3beta interaction protein C14orf129 chromosome 14 open reading frame 129 2003-01-28 2012-09-25 2012-09-25 2023-01-20 51527 ENSG00000100744 OTTHUMG00000171420 uc031qqf.2 AF151044 NM_016472 CCDS32153 Q9P0R6 "16981698|21328310" MGI:1914037 RGD:1308470 616605 470416 HGNC:20343 "ENST00000555181.6|NM_016472.5" -HGNC:4620 GSN gelsolin protein-coding gene gene with protein product Approved 9q33.2 09q33.2 DKFZp313L0718 amyloidosis, Finnish type gelsolin (amyloidosis, Finnish type) Gelsolin/villins 950 1988-07-19 2010-04-27 2023-01-20 2934 ENSG00000148180 OTTHUMG00000020584 uc064vkv.1 X04412 NM_000177 "CCDS75890|CCDS75891|CCDS94475|CCDS48011|CCDS65118|CCDS6829|CCDS6828" P06396 1652889 MGI:95851 RGD:1303089 137350 122296 HGNC:4620 "ENST00000432226.7|NM_198252.3" HGNC:4620 +HGNC:4620 GSN gelsolin protein-coding gene gene with protein product Approved 9q33.2 09q33.2 DKFZp313L0718 amyloidosis, Finnish type gelsolin (amyloidosis, Finnish type) Gelsolin/villins 950 1988-07-19 2010-04-27 2023-01-20 2934 ENSG00000148180 OTTHUMG00000020584 uc064vkv.1 X04412 NM_000177 "CCDS6828|CCDS65118|CCDS6829|CCDS94475|CCDS75890|CCDS75891|CCDS48011" P06396 1652889 MGI:95851 RGD:1303089 137350 122296 HGNC:4620 "ENST00000432226.7|NM_198252.3" HGNC:4620 HGNC:23372 GSN-AS1 GSN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q33.2 09q33.2 MOST2 C9orf31 "chromosome 9 open reading frame 31|GSN antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-11-22 2012-03-13 2012-08-15 2016-10-05 57000 ENSG00000235865 OTTHUMG00000020586 uc033dha.1 AF220263 NR_103560 Q9NRJ2 GSN-AS1 HGNC:23372 HGNC:4621 GSPT1 G1 to S phase transition 1 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "GST1|ETF3A|eRF3a" eukaryotic release factor 3a SURF complex 1963 1992-02-07 2023-01-20 2935 ENSG00000103342 OTTHUMG00000172956 uc002dbt.4 BC008391 NM_002094 "CCDS45413|CCDS45412|CCDS45414" P15170 "2511002|17700517" MGI:1316728 RGD:2751 139259 HGNC:4621 "ENST00000434724.7|NM_002094.4" HGNC:4622 GSPT2 G1 to S phase transition 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "eRF3b|FLJ10441" SURF complex 1963 1999-05-05 2023-01-20 23708 ENSG00000189369 OTTHUMG00000021538 uc004dpl.4 AI285711 NM_018094 CCDS14336 Q8IYD1 10575220 MGI:1316727 RGD:1563213 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GSPT2 300418 HGNC:4622 "ENST00000340438.6|NM_018094.5" -HGNC:4623 GSR glutathione-disulfide reductase protein-coding gene gene with protein product Approved 8p12 08p12 glutathione S-reductase glutathione reductase 2001-06-22 2016-06-30 2023-01-20 2936 ENSG00000104687 OTTHUMG00000163946 uc003xih.3 NM_000637 "CCDS34877|CCDS56532|CCDS56530|CCDS56531" P00390 MGI:95804 RGD:621747 LRG_1167|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1167.xml 138300 122298 objectId:2613 1.8.1.7 HGNC:4623 "ENST00000221130.11|NM_000637.5" HGNC:4623 +HGNC:4623 GSR glutathione-disulfide reductase protein-coding gene gene with protein product Approved 8p12 08p12 glutathione S-reductase glutathione reductase 2001-06-22 2016-06-30 2023-01-20 2936 ENSG00000104687 OTTHUMG00000163946 uc003xih.3 NM_000637 "CCDS56532|CCDS56531|CCDS34877|CCDS56530" P00390 MGI:95804 RGD:621747 LRG_1167|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1167.xml 138300 122298 objectId:2613 1.8.1.7 HGNC:4623 "ENST00000221130.11|NM_000637.5" HGNC:4623 HGNC:4624 GSS glutathione synthetase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 1991-05-01 2023-01-20 2937 ENSG00000100983 OTTHUMG00000032315 uc002xbg.4 NM_000178 CCDS13245 P48637 8825653 MGI:95852 RGD:2752 LRG_1168|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1168.xml 601002 122300 6.3.2.3 HGNC:4624 "ENST00000651619.1|NM_000178.4" HGNC:4624 HGNC:4626 GSTA1 glutathione S-transferase alpha 1 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 glutathione S-transferase A1 Soluble glutathione S-transferases 567 1991-12-06 2008-11-26 2023-01-20 2938 ENSG00000243955 OTTHUMG00000014861 uc003paz.4 NM_001319059 CCDS4945 P08263 9503014 "MGI:95863|MGI:1095417|MGI:3704339|MGI:3826440" RGD:2753 138359 2.5.1.18 HGNC:4626 "ENST00000334575.6|NM_145740.5" HGNC:4627 GSTA2 glutathione S-transferase alpha 2 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 GST2 glutathione S-transferase A2 Soluble glutathione S-transferases 567 1986-01-01 2008-11-26 2023-01-20 2939 ENSG00000244067 OTTHUMG00000016263 uc003pay.4 AL109918 NM_000846 CCDS4944 P09210 "MGI:95863|MGI:1095417|MGI:3704339|MGI:3826440" RGD:2754 138360 2.5.1.18 HGNC:4627 "ENST00000493422.3|NM_000846.5" -HGNC:4628 GSTA3 glutathione S-transferase alpha 3 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 glutathione S-transferase A3 Soluble glutathione S-transferases 567 1994-04-29 2008-11-26 2023-01-20 2940 ENSG00000174156 OTTHUMG00000014865 uc003pbb.4 AF020919 NM_000847 "CCDS4947|CCDS87412" Q16772 "8307579|9480897" "MGI:95856|MGI:95863|MGI:1095417|MGI:3704339|MGI:3826440" 605449 2.5.1.18 HGNC:4628 "ENST00000211122.4|NM_000847.5" +HGNC:4628 GSTA3 glutathione S-transferase alpha 3 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 glutathione S-transferase A3 Soluble glutathione S-transferases 567 1994-04-29 2008-11-26 2023-01-20 2940 ENSG00000174156 OTTHUMG00000014865 uc003pbb.4 AF020919 NM_000847 "CCDS87412|CCDS4947" Q16772 "8307579|9480897" "MGI:95856|MGI:95863|MGI:1095417|MGI:3704339|MGI:3826440" 605449 2.5.1.18 HGNC:4628 "ENST00000211122.4|NM_000847.5" HGNC:4629 GSTA4 glutathione S-transferase alpha 4 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 glutathione S-transferase A4 Soluble glutathione S-transferases 567 1998-06-22 2008-11-26 2023-01-20 2941 ENSG00000170899 OTTHUMG00000014868 uc003pbf.4 AF020918 NM_001512 CCDS4948 O15217 9480897 RGD:1309970 605450 2.5.1.18 HGNC:4629 "ENST00000370963.9|NM_001512.4" HGNC:19662 GSTA5 glutathione S-transferase alpha 5 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 glutathione S-transferase A5 Soluble glutathione S-transferases 567 2002-11-11 2008-11-26 2023-02-09 221357 ENSG00000182793 OTTHUMG00000014857 uc003pba.2 BK000212 NM_153699 CCDS4946 Q7RTV2 12042665 "MGI:95856|MGI:95863|MGI:1095417|MGI:3704339|MGI:3826440" RGD:1593189 607605 2.5.1.18 HGNC:19662 HGNC:4630 GSTA6P glutathione S-transferase alpha 6, pseudogene pseudogene pseudogene Approved 6p12.2 06p12.2 GSTAP1 "glutathione S-transferase A pseudogene 1|glutathione S-transferase alpha pseudogene 1" Soluble glutathione S-transferases 567 1993-05-26 2009-12-08 2009-12-08 2014-11-19 2942 ENSG00000223622 OTTHUMG00000014858 L13269 NG_001135 8307579 PGOHUM00000243196 HGNC:4630 @@ -10909,35 +10910,35 @@ HGNC:49905 GSTA11P glutathione S-transferase alpha 11, pseudogene pseudogene pse HGNC:49906 GSTA12P glutathione S-transferase alpha 12, pseudogene pseudogene pseudogene Approved 6p12.2 06p12.2 GSTAP5 Soluble glutathione S-transferases 567 2014-06-04 2014-06-04 647169 ENSG00000217228 OTTHUMG00000014852 NG_022299 12042665 PGOHUM00000243195 HGNC:49906 HGNC:25806 GSTCD glutathione S-transferase C-terminal domain containing protein-coding gene gene with protein product Approved 4q24 04q24 FLJ13273 7BS orphan methyltransferases 2066 2006-04-03 2016-01-13 2023-01-20 79807 ENSG00000138780 OTTHUMG00000131211 uc003hxy.4 BC032942 NM_024751 "CCDS43257|CCDS3672" Q8NEC7 24058608 MGI:1914803 RGD:1311822 615912 HGNC:25806 "ENST00000515279.6|NM_001370181.1" HGNC:41117 GSTCD-AS1 GSTCD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Antisense RNAs 1987 2019-08-07 2019-08-07 101929529 ENSG00000251175 OTTHUMG00000161179 NR_125927 HGNC:41117 -HGNC:16906 GSTK1 glutathione S-transferase kappa 1 protein-coding gene gene with protein product Approved 7q34 07q34 GST13 Soluble glutathione S-transferases 567 2004-10-22 2023-01-20 373156 ENSG00000197448 OTTHUMG00000152637 uc003wci.4 NM_015917 "CCDS47730|CCDS5877|CCDS47732|CCDS47731" Q9Y2Q3 "12720545|14742434" MGI:1923513 RGD:735188 602321 2.5.1.18 HGNC:16906 "ENST00000358406.10|NM_015917.3" -HGNC:4632 GSTM1 glutathione S-transferase mu 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "MU|H-B" GST1 glutathione S-transferase M1 Soluble glutathione S-transferases 567 1989-05-24 2008-11-26 2023-01-20 2944 ENSG00000134184 OTTHUMG00000011635 uc001dyk.4 BC036805 NM_000561 "CCDS810|CCDS809" P09488 "MGI:95860|MGI:95861|MGI:106026|MGI:1309467" RGD:2755 138350 2.5.1.18 HGNC:4632 "ENST00000309851.10|NM_000561.4" -HGNC:4634 GSTM2 glutathione S-transferase mu 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 GST4 "glutathione S-transferase M2 (muscle)|glutathione S-transferase mu 2 (muscle)" Soluble glutathione S-transferases 567 1991-12-06 2016-06-27 2023-01-20 2946 ENSG00000213366 OTTHUMG00000011638 uc001dyj.4 M63509 NM_000848 "CCDS808|CCDS44192" P28161 "2034681|2345169" MGI:1915562 RGD:2756 138380 2.5.1.18 HGNC:4634 "ENST00000241337.9|NM_000848.4" +HGNC:16906 GSTK1 glutathione S-transferase kappa 1 protein-coding gene gene with protein product Approved 7q34 07q34 GST13 Soluble glutathione S-transferases 567 2004-10-22 2023-01-20 373156 ENSG00000197448 OTTHUMG00000152637 uc003wci.4 NM_015917 "CCDS5877|CCDS47730|CCDS47731|CCDS47732" Q9Y2Q3 "12720545|14742434" MGI:1923513 RGD:735188 602321 2.5.1.18 HGNC:16906 "ENST00000358406.10|NM_015917.3" +HGNC:4632 GSTM1 glutathione S-transferase mu 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "MU|H-B" GST1 glutathione S-transferase M1 Soluble glutathione S-transferases 567 1989-05-24 2008-11-26 2023-01-20 2944 ENSG00000134184 OTTHUMG00000011635 uc001dyk.4 BC036805 NM_000561 "CCDS809|CCDS810" P09488 "MGI:95860|MGI:95861|MGI:106026|MGI:1309467" RGD:2755 138350 2.5.1.18 HGNC:4632 "ENST00000309851.10|NM_000561.4" +HGNC:4634 GSTM2 glutathione S-transferase mu 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 GST4 "glutathione S-transferase M2 (muscle)|glutathione S-transferase mu 2 (muscle)" Soluble glutathione S-transferases 567 1991-12-06 2016-06-27 2023-01-20 2946 ENSG00000213366 OTTHUMG00000011638 uc001dyj.4 M63509 NM_000848 "CCDS44192|CCDS808" P28161 "2034681|2345169" MGI:1915562 RGD:2756 138380 2.5.1.18 HGNC:4634 "ENST00000241337.9|NM_000848.4" HGNC:38009 GSTM2P1 glutathione S-transferase mu 2 pseudogene 1 pseudogene pseudogene Approved 6q21 06q21 glutathione S-transferase mu 2 (muscle) pseudogene 1 2010-03-19 2016-06-27 2016-06-27 442245 ENSG00000218803 OTTHUMG00000015367 NR_002932 PGOHUM00000243327 HGNC:38009 HGNC:4635 GSTM3 glutathione S-transferase mu 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "GST5|GSTM3TV2" "glutathione S-transferase M3 (brain)|glutathione S-transferase mu 3 (brain)" Soluble glutathione S-transferases 567 1991-12-06 2016-06-27 2023-01-20 2947 ENSG00000134202 OTTHUMG00000011640 uc057jbx.1 BC000088 NM_000849 CCDS812 P21266 2345169 MGI:1309466 RGD:61964 138390 2.5.1.18 HGNC:4635 "ENST00000361066.7|NM_000849.5" HGNC:16606 GSTM3P1 glutathione S-transferase mu 3 pseudogene 1 pseudogene pseudogene Approved 20p11.22 20p11.22 dJ984P4.2 GSTM3P "glutathione S-transferase M3 pseudogene|glutathione S-transferase mu 3 pseudogene" 2001-09-17 2010-03-17 2010-03-17 2014-11-19 170523 ENSG00000227693 OTTHUMG00000032028 AL133325 NG_001040 PGOHUM00000247610 HGNC:16606 HGNC:38006 GSTM3P2 glutathione S-transferase mu 3 pseudogene 2 pseudogene pseudogene Approved 2q24.2 02q24.2 2010-03-19 2014-11-19 100421057 ENSG00000226878 OTTHUMG00000154040 NG_021533 PGOHUM00000240402 HGNC:38006 -HGNC:4636 GSTM4 glutathione S-transferase mu 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 glutathione S-transferase M4 Soluble glutathione S-transferases 567 1993-05-12 2008-11-26 2023-01-20 2948 ENSG00000168765 OTTHUMG00000011642 uc001dyf.4 M96234 NM_000850 "CCDS807|CCDS806" Q03013 8276420 MGI:95862 RGD:1565825 138333 2.5.1.18 HGNC:4636 "ENST00000369836.9|NM_000850.5" +HGNC:4636 GSTM4 glutathione S-transferase mu 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 glutathione S-transferase M4 Soluble glutathione S-transferases 567 1993-05-12 2008-11-26 2023-01-20 2948 ENSG00000168765 OTTHUMG00000011642 uc001dyf.4 M96234 NM_000850 "CCDS806|CCDS807" Q03013 8276420 MGI:95862 RGD:1565825 138333 2.5.1.18 HGNC:4636 "ENST00000369836.9|NM_000850.5" HGNC:4637 GSTM5 glutathione S-transferase mu 5 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 glutathione S-transferase M5 Soluble glutathione S-transferases 567 1993-06-15 2008-11-26 2023-01-20 2949 ENSG00000134201 OTTHUMG00000011644 uc001dyn.4 L02321 NM_000851 CCDS811 P46439 8473333 "MGI:95860|MGI:95861" RGD:1311731 138385 2.5.1.18 HGNC:4637 "ENST00000256593.8|NM_000851.4" HGNC:4633 GSTM5P1 glutathione S-transferase mu 5 pseudogene 1 pseudogene pseudogene Approved 3p25.2 03p25.2 "GST1L|GSTM1L" "glutathione S-transferase M1-like|glutathione S-transferase mu 1-like" 1989-09-20 2010-03-19 2010-03-19 2020-04-20 100505557 ENSG00000236062 OTTHUMG00000155336 NG_012650 2737666 PGOHUM00000237536 HGNC:4633 -HGNC:13312 GSTO1 glutathione S-transferase omega 1 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "GSTTLp28|P28" Soluble glutathione S-transferases 567 2003-09-01 2023-01-20 9446 ENSG00000148834 OTTHUMG00000019001 uc001kya.4 AF212303 NM_004832 "CCDS7555|CCDS53572|CCDS53573" P78417 "10783391|12618591" MGI:1342273 RGD:70952 605482 objectId:3110 "2.5.1.18|1.8.5.1|1.20.4.2" HGNC:13312 "ENST00000369713.10|NM_004832.3" -HGNC:23064 GSTO2 glutathione S-transferase omega 2 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 Soluble glutathione S-transferases 567 2003-09-01 2023-01-20 119391 ENSG00000065621 OTTHUMG00000019006 uc001kyb.4 AY191318 NM_183239 "CCDS7556|CCDS53575|CCDS53574" Q9H4Y5 12618591 MGI:1915464 RGD:1310764 612314 "2.5.1.18|1.8.5.1|1.20.4.2" HGNC:23064 "ENST00000338595.7|NM_183239.2" +HGNC:13312 GSTO1 glutathione S-transferase omega 1 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "GSTTLp28|P28" Soluble glutathione S-transferases 567 2003-09-01 2023-01-20 9446 ENSG00000148834 OTTHUMG00000019001 uc001kya.4 AF212303 NM_004832 "CCDS7555|CCDS53573|CCDS53572" P78417 "10783391|12618591" MGI:1342273 RGD:70952 605482 objectId:3110 "2.5.1.18|1.8.5.1|1.20.4.2" HGNC:13312 "ENST00000369713.10|NM_004832.3" +HGNC:23064 GSTO2 glutathione S-transferase omega 2 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 Soluble glutathione S-transferases 567 2003-09-01 2023-01-20 119391 ENSG00000065621 OTTHUMG00000019006 uc001kyb.4 AY191318 NM_183239 "CCDS53575|CCDS53574|CCDS7556" Q9H4Y5 12618591 MGI:1915464 RGD:1310764 612314 "2.5.1.18|1.8.5.1|1.20.4.2" HGNC:23064 "ENST00000338595.7|NM_183239.2" HGNC:23065 GSTO3P glutathione S-transferase omega 3, pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 GSTO3P1 glutathione S-transferase omega 3 pseudogene 1 Soluble glutathione S-transferases 567 2003-09-01 2009-12-08 2009-12-08 2014-11-19 344813 ENSG00000232829 OTTHUMG00000159700 NG_005668 12618591 PGOHUM00000238188 HGNC:23065 HGNC:4638 GSTP1 glutathione S-transferase pi 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 GSTP "FAEES3|GST3" Soluble glutathione S-transferases 567 1986-01-01 2008-07-18 2023-01-20 2950 ENSG00000084207 OTTHUMG00000137430 uc001omf.4 U12472 NM_000852 CCDS41679 P09211 "1885604|7587384|19915149" "MGI:2385078|MGI:95864|MGI:95865" RGD:2758 LRG_723|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_723.xml 134660 2.5.1.18 HGNC:4638 "ENST00000398606.10|NM_000852.4" HGNC:4640 GSTP1P1 glutathione S-transferase pi 1 pseudogene 1 pseudogene pseudogene Approved 12q13.2 12q13.2 "GSTP1P|Lnc712" "GST3L|GSTPL|GSTPP" glutathione S-transferase pi 1 pseudogene 1989-06-30 2010-04-28 2010-04-28 2020-01-10 2951 ENSG00000257569 OTTHUMG00000170203 NG_004638 PGOHUM00000291688 HGNC:4640 HGNC:4641 GSTT1 glutathione S-transferase theta 1 protein-coding gene gene with protein product Approved 22q11.23 alternate reference locus 22q11.23 alternate reference locus Soluble glutathione S-transferases 567 1994-08-10 2023-03-15 2952 ENSG00000277656 uc002zze.4 KI270879 NM_000853 P30711 8617495 MGI:107379 RGD:2765 600436 470418 2.5.1.18 HGNC:51839 GSTT1-AS1 GSTT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.23 alternate reference locus 22q11.23 alternate reference locus "lncRNA-AS-GSTT1(1-72)|lncRNA-CD244|lncRNA-BC050410" Antisense RNAs 1987 2015-08-05 2015-08-05 106099130 "KI270879|BC050410" NR_132348 26150504 HGNC:4642 GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) protein-coding gene gene with protein product Approved 22q11.23 22q11.23 glutathione S-transferase theta 2 Soluble glutathione S-transferases 567 1994-08-16 2014-10-10 2015-09-07 2953 ENSG00000099984 OTTHUMG00000150786 uc062cim.2 L38503 NM_000854 P0CG29 "7789971|9729470" MGI:106188 RGD:69362 600437 2.5.1.18 HGNC:4642 -HGNC:33437 GSTT2B glutathione S-transferase theta 2B protein-coding gene gene with protein product Approved 22q11.23 22q11.23 GSTT2P glutathione S-transferase theta 2B (gene/pseudogene) Soluble glutathione S-transferases 567 2007-06-19 2020-05-01 2023-01-20 653689 ENSG00000133433 OTTHUMG00000150774 uc002zyw.5 BC071700 NM_001080843 "CCDS87010|CCDS33617" P0CG30 "9729470|19424424" MGI:106188 2.5.1.18 HGNC:33437 "ENST00000290765.9|NM_001080843.4" +HGNC:33437 GSTT2B glutathione S-transferase theta 2B protein-coding gene gene with protein product Approved 22q11.23 22q11.23 GSTT2P glutathione S-transferase theta 2B (gene/pseudogene) Soluble glutathione S-transferases 567 2007-06-19 2020-05-01 2023-01-20 653689 ENSG00000133433 OTTHUMG00000150774 uc002zyw.5 BC071700 NM_001080843 "CCDS33617|CCDS87010" P0CG30 "9729470|19424424" MGI:106188 2.5.1.18 HGNC:33437 "ENST00000290765.9|NM_001080843.4" HGNC:55078 GSTT3P glutathione S-transferase theta 3, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 Soluble glutathione S-transferases 567 2021-07-06 2021-07-06 121853073 ENSG00000224205 MGI:2143526 PGOHUM00000306560 HGNC:26930 GSTT4 glutathione S-transferase theta 4 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 HS322B1A GSTTP1 glutathione S-transferase theta pseudogene 1 Soluble glutathione S-transferases 567 2007-08-17 2017-12-15 2017-12-15 2023-01-20 25774 ENSG00000276950 OTTHUMG00000150811 AL050257 NM_001358664 CCDS87011 A0A1W2PR19 10334644 MGI:1923136 RGD:1591294 HGNC:26930 "ENST00000621179.6|NM_001358664.2" HGNC:33606 GSTTP2 glutathione S-transferase theta pseudogene 2 pseudogene pseudogene Approved 22q11.23 alternate reference locus 22q11.23 alternate reference locus 2007-08-17 2015-02-04 653399 KI270879 NR_003082 -HGNC:4643 GSTZ1 glutathione S-transferase zeta 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "GSTZ1-1|MAAI|MAI" maleylacetoacetate isomerase glutathione transferase zeta 1 Soluble glutathione S-transferases 567 1998-06-25 2012-06-22 2023-01-20 2954 ENSG00000100577 OTTHUMG00000171551 uc001xtj.4 U86529 NM_145870 "CCDS9860|CCDS9859|CCDS86416|CCDS9858" O43708 "9396740|9417084" MGI:1341859 RGD:1589363 603758 "5.2.1.2|2.5.1.18" HGNC:4643 "ENST00000216465.10|NM_145870.3" HGNC:4643 +HGNC:4643 GSTZ1 glutathione S-transferase zeta 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "GSTZ1-1|MAAI|MAI" maleylacetoacetate isomerase glutathione transferase zeta 1 Soluble glutathione S-transferases 567 1998-06-25 2012-06-22 2023-01-20 2954 ENSG00000100577 OTTHUMG00000171551 uc001xtj.4 U86529 NM_145870 "CCDS9859|CCDS9860|CCDS86416|CCDS9858" O43708 "9396740|9417084" MGI:1341859 RGD:1589363 603758 "5.2.1.2|2.5.1.18" HGNC:4643 "ENST00000216465.10|NM_145870.3" HGNC:4643 HGNC:20374 GSX1 GS homeobox 1 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 Gsh-1 GSH1 HOXL subclass homeoboxes 518 2003-02-18 2007-07-26 2023-01-20 219409 ENSG00000169840 OTTHUMG00000016637 uc001urr.2 AB044157 NM_145657 CCDS9326 Q9H4S2 MGI:95842 RGD:1310020 616542 8374 HGNC:20374 "ENST00000302945.3|NM_145657.3" HGNC:24959 GSX2 GS homeobox 2 protein-coding gene gene with protein product Approved 4q12 04q12 Gsh2 HOXL subclass homeoboxes 518 2007-07-26 2023-01-20 170825 ENSG00000180613 OTTHUMG00000128696 uc062wqq.1 NM_133267 CCDS3494 Q9BZM3 "11861295|12205114" MGI:95843 RGD:1308047 616253 8375 HGNC:24959 "ENST00000326902.7|NM_133267.3" -HGNC:20887 GTDC1 glycosyltransferase like domain containing 1 protein-coding gene gene with protein product Approved 2q22.3 02q22.3 "FLJ11753|Hmat-Xa" mannosyltransferase-like glycosyltransferase-like domain containing 1 Glycosyl transferases group 1 domain containing 427 2005-01-10 2015-11-12 2023-01-20 79712 ENSG00000121964 OTTHUMG00000131835 uc010fnn.5 AY281366 NM_024659 "CCDS86884|CCDS63029|CCDS74582|CCDS74583|CCDS2185|CCDS33300" Q4AE62 "15068588|21821951" MGI:2444269 RGD:1563393 610165 HGNC:20887 "ENST00000682281.1|NM_001376312.2" +HGNC:20887 GTDC1 glycosyltransferase like domain containing 1 protein-coding gene gene with protein product Approved 2q22.3 02q22.3 "FLJ11753|Hmat-Xa" mannosyltransferase-like glycosyltransferase-like domain containing 1 Glycosyl transferases group 1 domain containing 427 2005-01-10 2015-11-12 2023-01-20 79712 ENSG00000121964 OTTHUMG00000131835 uc010fnn.5 AY281366 NM_024659 "CCDS2185|CCDS74582|CCDS63029|CCDS86884|CCDS74583|CCDS33300" Q4AE62 "15068588|21821951" MGI:2444269 RGD:1563393 610165 HGNC:20887 "ENST00000682281.1|NM_001376312.2" HGNC:4646 GTF2A1 general transcription factor IIA subunit 1 protein-coding gene gene with protein product Approved 14q31.1 14q31.1 TFIIA TFIIA alpha/beta subunits "glucose regulated protein, 58kD pseudogene|general transcription factor IIA, 1, 19/37kDa|general transcription factor IIA 1" "General transcription factor IIA complex subunits|Small nucleolar RNA protein coding host genes" "1748|1835" 1994-01-27 2016-04-26 2023-01-20 2957 ENSG00000165417 OTTHUMG00000171414 uc001xvf.4 X75383 NM_015859 "CCDS9873|CCDS9874" P52655 8224848 MGI:1933277 RGD:69246 600520 HGNC:4646 "ENST00000553612.6|NM_015859.4" HGNC:56195 GTF2A1-AS1 GTF2A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q31.1 14q31.1 Antisense RNAs 1987 2022-01-31 2022-01-31 101928504 ENSG00000273783 NR_135252 -HGNC:30727 GTF2A1L general transcription factor IIA subunit 1 like protein-coding gene gene with protein product Approved 2p16.3 02p16.3 ALF TFIIA alpha/beta like factor "general transcription factor IIA, 1-like|general transcription factor IIA 1 like" General transcription factor IIA complex subunits 1748 2007-08-02 2016-04-26 2023-03-15 11036 ENSG00000242441 OTTHUMG00000152038 uc002rws.4 AF106857 NM_006872 "CCDS54359|CCDS46281" Q9UNN4 "10364255|11889132|16525715" MGI:1919078 RGD:1308625 605358 HGNC:30727 "ENST00000403751.8|NM_006872.5" +HGNC:30727 GTF2A1L general transcription factor IIA subunit 1 like protein-coding gene gene with protein product Approved 2p16.3 02p16.3 ALF TFIIA alpha/beta like factor "general transcription factor IIA, 1-like|general transcription factor IIA 1 like" General transcription factor IIA complex subunits 1748 2007-08-02 2016-04-26 2023-03-15 11036 ENSG00000242441 OTTHUMG00000152038 uc002rws.4 AF106857 NM_006872 "CCDS46281|CCDS54359" Q9UNN4 "10364255|11889132|16525715" MGI:1919078 RGD:1308625 605358 HGNC:30727 "ENST00000403751.8|NM_006872.5" HGNC:4647 GTF2A2 general transcription factor IIA subunit 2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "TFIIA|HsT18745" TFIIA gamma subunit "general transcription factor IIA, 2 (12kD subunit)|general transcription factor IIA, 2, 12kDa|general transcription factor IIA 2" General transcription factor IIA complex subunits 1748 1994-10-25 2016-04-26 2023-01-20 2958 ENSG00000140307 OTTHUMG00000132725 uc002agg.3 BC001919 NM_004492 CCDS10173 P52657 7958899 MGI:1933289 RGD:620720 600519 HGNC:4647 "ENST00000396060.7|NM_004492.3" HGNC:4648 GTF2B general transcription factor IIB protein-coding gene gene with protein product Approved 1p22.2 01p22.2 TFIIB General transcription factors 565 1993-08-16 2023-01-20 2959 ENSG00000137947 OTTHUMG00000010611 uc001dmo.5 M76766 NM_001514 CCDS715 Q00403 "1876184|8162052" MGI:2385191 RGD:619735 189963 HGNC:4648 "ENST00000370500.10|NM_001514.6" HGNC:4650 GTF2E1 general transcription factor IIE subunit 1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "TFIIE-A|FE" TFIIE alpha subunit "general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)|general transcription factor IIE, polypeptide 1, alpha 56kDa" General transcription factor IIE complex subunits 1746 1993-08-20 2015-11-09 2023-01-20 2960 ENSG00000153767 OTTHUMG00000159667 uc003edz.5 S67859 NM_005513 CCDS3002 P29083 "1454543|8162052" MGI:1921447 RGD:1306851 189962 HGNC:4650 "ENST00000283875.6|NM_005513.3" @@ -10951,10 +10952,10 @@ HGNC:4656 GTF2H2 general transcription factor IIH subunit 2 protein-coding gene HGNC:31393 GTF2H2B general transcription factor IIH subunit 2B (pseudogene) pseudogene pseudogene Approved 5q13.2 05q13.2 DKFZP686M0199 "general transcription factor IIH, polypeptide 2B|general transcription factor IIH, polypeptide 2B (pseudogene)" 2008-07-04 2015-11-09 2023-03-15 653238 ENSG00000226259 OTTHUMG00000162394 NR_033417 PGOHUM00000300994 HGNC:31393 HGNC:31394 GTF2H2C GTF2H2 family member C protein-coding gene gene with protein product Approved 5q13.2 05q13.2 general transcription factor IIH, polypeptide 2C 2009-01-09 2014-03-28 2023-01-20 728340 ENSG00000183474 OTTHUMG00000162365 uc003jwz.6 NM_001098728 CCDS43325 Q6P1K8 MGI:1345669 RGD:1310499 HGNC:31394 "ENST00000380729.8|NM_001376000.2" HGNC:35418 GTF2H2C_2 GTF2H2 family member C, copy 2 protein-coding gene gene with protein product Approved 5q13.2 alternate reference locus 05q13.2 alternate reference locus LOC730394 GTF2H2D general transcription factor IIH, polypeptide 2D 2009-01-09 2014-03-28 2014-03-28 2014-03-28 730394 "BC064557|BC065021|GL339449" NM_001042490 Q6P1K8 MGI:1345669 -HGNC:4657 GTF2H3 general transcription factor IIH subunit 3 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "BTF2|TFIIH|P34" "general transcription factor IIH, polypeptide 3 (34kD subunit)|general transcription factor IIH, polypeptide 3, 34kDa" "Nucleotide excision repair|General transcription factor IIH complex subunits" "1269|1745" 1994-11-01 2015-11-09 2023-01-20 2967 ENSG00000111358 OTTHUMG00000168697 uc001ufo.3 Z30093 NM_001516 "CCDS9252|CCDS61275|CCDS73544" Q13889 8194529 MGI:1277143 RGD:1305494 601750 HGNC:4657 "ENST00000543341.7|NM_001516.5" +HGNC:4657 GTF2H3 general transcription factor IIH subunit 3 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "BTF2|TFIIH|P34" "general transcription factor IIH, polypeptide 3 (34kD subunit)|general transcription factor IIH, polypeptide 3, 34kDa" "Nucleotide excision repair|General transcription factor IIH complex subunits" "1269|1745" 1994-11-01 2015-11-09 2023-01-20 2967 ENSG00000111358 OTTHUMG00000168697 uc001ufo.3 Z30093 NM_001516 "CCDS61275|CCDS9252|CCDS73544" Q13889 8194529 MGI:1277143 RGD:1305494 601750 HGNC:4657 "ENST00000543341.7|NM_001516.5" HGNC:4658 GTF2H4 general transcription factor IIH subunit 4 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "TFB2|TFIIH|P52" "general transcription factor IIH, polypeptide 4 (52kD subunit)|general transcription factor IIH, polypeptide 4, 52kDa" "Nucleotide excision repair|General transcription factor IIH complex subunits" "1269|1745" 1998-08-19 2015-11-09 2023-01-20 2968 ENSG00000213780 OTTHUMG00000031043 uc003nsa.2 Y07595 NM_001517 CCDS34386 Q92759 9118947 MGI:1338799 RGD:1303309 601760 HGNC:4658 "ENST00000259895.9|NM_001517.5" HGNC:21157 GTF2H5 general transcription factor IIH subunit 5 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ30544|bA120J8.2|TTD-A|TFB5|TFIIH|TTDA" DNA repair syndrome trichothiodystrophy group A "C6orf175|TTD" "chromosome 6 open reading frame 175|trichothiodystrophy|general transcription factor IIH, polypeptide 5" "Nucleotide excision repair|General transcription factor IIH complex subunits" "1269|1745" 2003-11-25 2004-07-16 2015-11-09 2023-01-20 404672 ENSG00000272047 OTTHUMG00000015906 uc003qrd.4 AK055106 NM_207118 CCDS5256 Q6ZYL4 15220921 MGI:107227 RGD:1560991 LRG_469|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_469.xml 608780 122302 HGNC:21157 "ENST00000607778.2|NM_207118.3" HGNC:21157 -HGNC:4659 GTF2I general transcription factor IIi protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "TFII-I|BAP-135|SPIN|BTKAP1|DIWS|IB291" WBSCR6 general transcription factor II, i General transcription factors 565 1997-09-12 2009-07-23 2023-01-20 2969 ENSG00000263001 OTTHUMG00000156237 uc003uau.5 U77948 NM_032999 "CCDS5574|CCDS5575|CCDS5573|CCDS64680|CCDS47614" P78347 "9334314|9012831" MGI:1202722 RGD:727961 601679 122310 HGNC:4659 "ENST00000573035.6|NM_032999.4" +HGNC:4659 GTF2I general transcription factor IIi protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "TFII-I|BAP-135|SPIN|BTKAP1|DIWS|IB291" WBSCR6 general transcription factor II, i General transcription factors 565 1997-09-12 2009-07-23 2023-01-20 2969 ENSG00000263001 OTTHUMG00000156237 uc003uau.5 U77948 NM_032999 "CCDS64680|CCDS47614|CCDS5574|CCDS5573|CCDS5575" P78347 "9334314|9012831" MGI:1202722 RGD:727961 601679 122310 HGNC:4659 "ENST00000573035.6|NM_032999.4" HGNC:55572 GTF2I-AS1 GTF2I antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q11.23 07q11.23 Antisense RNAs 1987 2021-04-21 2021-04-21 101926943 ENSG00000232729 NR_110044 HGNC:4660 GTF2IP1 general transcription factor IIi pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 WBSCR7 general transcription factor II, i, pseudogene 1 1997-09-12 2015-05-18 2015-05-18 2970 ENSG00000277053 OTTHUMG00000181536 AF036613 NR_002206 9466987 PGOHUM00000302304 HGNC:4660 HGNC:16082 GTF2IP2 general transcription factor IIi pseudogene 2 pseudogene pseudogene Approved 21q11.2 21q11.2 general transcription factor II, i, pseudogene 2 2003-03-24 2015-05-18 2015-05-18 338448 ENSG00000226930 OTTHUMG00000074198 NG_031936 PGOHUM00000297206 HGNC:16082 @@ -10978,10 +10979,10 @@ HGNC:51732 GTF2IP20 general transcription factor IIi pseudogene 20 pseudogene ps HGNC:51733 GTF2IP21 general transcription factor IIi pseudogene 21 pseudogene pseudogene Approved 1p36.33 01p36.33 2015-05-18 2015-05-18 PGOHUM00000295517 HGNC:51734 GTF2IP22 general transcription factor IIi pseudogene 22 pseudogene pseudogene Approved 14q11.2 14q11.2 2015-05-18 2015-05-18 106480347 ENSG00000259095 OTTHUMG00000170786 NG_045924 PGOHUM00000292283 HGNC:51734 HGNC:51735 GTF2IP23 general transcription factor IIi pseudogene 23 pseudogene pseudogene Approved 7q11.21 07q11.21 2015-05-18 2015-05-18 101929580 ENSG00000230295 OTTHUMG00000156905 NR_135738 PGOHUM00000302778 HGNC:51735 -HGNC:4661 GTF2IRD1 GTF2I repeat domain containing 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "MusTRD1|RBAP2|GTF3|WBSCR12|BEN|Cream1" binding factor for early enhancer WBSCR11 GTF2I repeat domain-containing 1 1998-11-06 2002-01-14 2023-01-20 9569 ENSG00000006704 OTTHUMG00000023782 uc032zrx.2 AF151354 NM_016328 "CCDS56492|CCDS5571|CCDS94121|CCDS47613" Q9UHL9 "9774679|10198167" MGI:1861942 RGD:620856 604318 122319 HGNC:4661 "ENST00000424337.7|NM_005685.4" +HGNC:4661 GTF2IRD1 GTF2I repeat domain containing 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "MusTRD1|RBAP2|GTF3|WBSCR12|BEN|Cream1" binding factor for early enhancer WBSCR11 GTF2I repeat domain-containing 1 1998-11-06 2002-01-14 2023-01-20 9569 ENSG00000006704 OTTHUMG00000023782 uc032zrx.2 AF151354 NM_016328 "CCDS94121|CCDS5571|CCDS56492|CCDS47613" Q9UHL9 "9774679|10198167" MGI:1861942 RGD:620856 604318 122319 HGNC:4661 "ENST00000424337.7|NM_005685.4" HGNC:44136 GTF2IRD1P1 GTF2I repeat domain containing 1 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2012-06-23 2015-02-27 2015-02-27 729156 ENSG00000230583 OTTHUMG00000156927 NR_003934 PGOHUM00000232854 HGNC:44136 -HGNC:30775 GTF2IRD2 GTF2I repeat domain containing 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "FLJ37938|GTF2IRD2A" transcription factor GTF2IRD2 2006-08-30 2023-01-20 84163 ENSG00000196275 OTTHUMG00000181527 uc032zsc.2 BC047706 NM_173537 "CCDS64682|CCDS94122|CCDS5576" Q86UP8 15243160 MGI:2149780 RGD:1307435 608899 HGNC:30775 "ENST00000451013.7|NM_173537.5" -HGNC:33125 GTF2IRD2B GTF2I repeat domain containing 2B protein-coding gene gene with protein product Approved 7q11.23 07q11.23 2006-08-30 2023-01-20 389524 ENSG00000174428 OTTHUMG00000181534 uc003ubt.4 AY312850 NM_001003795 "CCDS94124|CCDS34659" Q6EKJ0 15100712 MGI:2149780 608900 HGNC:33125 "ENST00000472837.7|NM_001003795.3" +HGNC:30775 GTF2IRD2 GTF2I repeat domain containing 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "FLJ37938|GTF2IRD2A" transcription factor GTF2IRD2 2006-08-30 2023-01-20 84163 ENSG00000196275 OTTHUMG00000181527 uc032zsc.2 BC047706 NM_173537 "CCDS94122|CCDS5576|CCDS64682" Q86UP8 15243160 MGI:2149780 RGD:1307435 608899 HGNC:30775 "ENST00000451013.7|NM_173537.5" +HGNC:33125 GTF2IRD2B GTF2I repeat domain containing 2B protein-coding gene gene with protein product Approved 7q11.23 07q11.23 2006-08-30 2023-01-20 389524 ENSG00000174428 OTTHUMG00000181534 uc003ubt.4 AY312850 NM_001003795 "CCDS34659|CCDS94124" Q6EKJ0 15100712 MGI:2149780 608900 HGNC:33125 "ENST00000472837.7|NM_001003795.3" HGNC:33127 GTF2IRD2P1 GTF2I repeat domain containing 2 pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 GTF2IRD2P GTF2I repeat domain containing 2 pseudogene 2006-08-30 2010-02-09 2010-02-09 2014-11-19 401375 ENSG00000214544 OTTHUMG00000156803 AY312852 NR_002164 15100712 HGNC:33127 HGNC:4662 GTF3A general transcription factor IIIA protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "TFIIIA|AP2" "Zinc fingers C2H2-type|General transcription factors" "28|565" 1994-12-22 2023-01-20 2971 ENSG00000122034 OTTHUMG00000016632 uc058wav.1 NM_002097 CCDS45019 Q92664 7789179 MGI:1913846 RGD:619746 600860 HGNC:4662 "ENST00000381140.10|NM_002097.3" HGNC:49744 GTF3AP1 general transcription factor IIIA pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 2014-02-13 2014-02-13 100135064 ENSG00000237274 OTTHUMG00000019515 NG_007341 PGOHUM00000236373 HGNC:49744 @@ -10996,45 +10997,45 @@ HGNC:40269 GTF3C2-AS1 GTF3C2 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:55699 GTF3C2-AS2 GTF3C2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 AC074117.10 Antisense RNAs 1987 2021-07-05 2021-07-05 2021-07-05 2021-12-03 105374363 ENSG00000234072 NR_183824 HGNC:4666 GTF3C3 general transcription factor IIIC subunit 3 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "TFiiiC2-102|TFIIIC102" "general transcription factor IIIC, polypeptide 3 (102kD)|general transcription factor IIIC, polypeptide 3, 102kDa" "Tetratricopeptide repeat domain containing|General transcription factor IIIC complex subunits" "769|1747" 1999-03-16 2015-11-09 2023-01-20 9330 ENSG00000119041 OTTHUMG00000154633 uc002uts.4 AF133123 NM_001206774 "CCDS56153|CCDS2316" Q9Y5Q9 10373544 MGI:2138383 RGD:1309185 604888 HGNC:4666 "ENST00000263956.8|NM_012086.5" HGNC:4667 GTF3C4 general transcription factor IIIC subunit 4 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "TFIIIC90|KAT12" "general transcription factor IIIC, polypeptide 4 (90kD)|general transcription factor IIIC, polypeptide 4, 90kDa" "Lysine acetyltransferases|General transcription factor IIIC complex subunits" "486|1747" 1999-03-16 2015-11-09 2023-01-20 9329 ENSG00000125484 OTTHUMG00000020842 uc010mzv.4 AF142328 NM_012204 CCDS6953 Q9UKN8 10523658 MGI:2138937 RGD:1592609 604892 objectId:2656 HGNC:4667 "ENST00000372146.5|NM_012204.4" -HGNC:4668 GTF3C5 general transcription factor IIIC subunit 5 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "TFiiiC2-63|TFIIIC63|TFIIICepsilon" transcription factor IIIC, 63 kD "general transcription factor IIIC, polypeptide 5 (63kD)|general transcription factor IIIC, polypeptide 5, 63kDa" "MicroRNA protein coding host genes|General transcription factor IIIC complex subunits" "1691|1747" 1999-03-16 2015-11-09 2023-01-20 9328 ENSG00000148308 OTTHUMG00000020856 uc004cci.5 AF133124 NM_001122823 "CCDS75927|CCDS6958|CCDS48050" Q9Y5Q8 10373544 MGI:1917489 RGD:1305173 604890 HGNC:4668 "ENST00000372097.10|NM_012087.4" +HGNC:4668 GTF3C5 general transcription factor IIIC subunit 5 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "TFiiiC2-63|TFIIIC63|TFIIICepsilon" transcription factor IIIC, 63 kD "general transcription factor IIIC, polypeptide 5 (63kD)|general transcription factor IIIC, polypeptide 5, 63kDa" "MicroRNA protein coding host genes|General transcription factor IIIC complex subunits" "1691|1747" 1999-03-16 2015-11-09 2023-01-20 9328 ENSG00000148308 OTTHUMG00000020856 uc004cci.5 AF133124 NM_001122823 "CCDS48050|CCDS75927|CCDS6958" Q9Y5Q8 10373544 MGI:1917489 RGD:1305173 604890 HGNC:4668 "ENST00000372097.10|NM_012087.4" HGNC:20872 GTF3C6 general transcription factor IIIC subunit 6 protein-coding gene gene with protein product Approved 6q21 06q21 "bA397G5.3|TFIIIC35" C6orf51 "chromosome 6 open reading frame 51|general transcription factor IIIC, polypeptide 6, alpha 35kDa" General transcription factor IIIC complex subunits 1747 2003-04-16 2007-07-26 2015-11-09 2023-01-20 112495 ENSG00000155115 OTTHUMG00000015370 uc003pum.4 AK057977 NM_138408 CCDS5087 Q969F1 17409385 MGI:1914621 RGD:1307434 611784 HGNC:20872 "ENST00000329970.8|NM_138408.4" HGNC:55023 GTF3C6P1 GTF3C6 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-28 2020-05-28 100129001 ENSG00000215085 NG_022679 HGNC:55024 GTF3C6P2 GTF3C6 pseudogene 2 pseudogene pseudogene Approved Xq22.3 Xq22.3 2020-05-28 2020-05-28 644563 ENSG00000213569 NG_022688 HGNC:55025 GTF3C6P3 GTF3C6 pseudogene 3 pseudogene pseudogene Approved 7p14.3 07p14.3 2020-05-28 2020-05-28 646745 ENSG00000270196 NG_022554 HGNC:4669 GTPBP1 GTP binding protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "GP-1|HSPC018" 1999-04-22 2023-01-20 9567 ENSG00000100226 OTTHUMG00000151002 uc003awg.4 U87964 NM_004286 CCDS13977 O00178 9070279 MGI:109443 RGD:1306758 602245 470420 HGNC:4669 "ENST00000216044.10|NM_004286.5" -HGNC:4670 GTPBP2 GTP binding protein 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 2000-07-31 2023-01-20 54676 ENSG00000172432 OTTHUMG00000014744 uc003ovs.5 AB024574 NM_001286216 "CCDS69124|CCDS4903" Q9BX10 "10833435|11054535" MGI:1860138 RGD:1306367 607434 HGNC:4670 "ENST00000307126.10|NM_019096.5" HGNC:4670 -HGNC:14880 GTPBP3 GTP binding protein 3, mitochondrial protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MSS1|THDF1|GTPBG3|MTGP1|FLJ14700" 2003-11-27 2017-08-08 2023-01-20 84705 ENSG00000130299 OTTHUMG00000182766 uc002ngg.5 AF360742 NM_032620 "CCDS56088|CCDS32950|CCDS59364|CCDS32951" Q969Y2 29390138 MGI:1917609 RGD:1305367 608536 448614 HGNC:14880 "ENST00000324894.13|NM_032620.4" HGNC:14880 +HGNC:4670 GTPBP2 GTP binding protein 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 2000-07-31 2023-01-20 54676 ENSG00000172432 OTTHUMG00000014744 uc003ovs.5 AB024574 NM_001286216 "CCDS4903|CCDS69124" Q9BX10 "10833435|11054535" MGI:1860138 RGD:1306367 607434 HGNC:4670 "ENST00000307126.10|NM_019096.5" HGNC:4670 +HGNC:14880 GTPBP3 GTP binding protein 3, mitochondrial protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MSS1|THDF1|GTPBG3|MTGP1|FLJ14700" 2003-11-27 2017-08-08 2023-01-20 84705 ENSG00000130299 OTTHUMG00000182766 uc002ngg.5 AF360742 NM_032620 "CCDS59364|CCDS32950|CCDS56088|CCDS32951" Q969Y2 29390138 MGI:1917609 RGD:1305367 608536 448614 HGNC:14880 "ENST00000324894.13|NM_032620.4" HGNC:14880 HGNC:21535 GTPBP4 GTP binding protein 4 protein-coding gene gene with protein product Approved 10p15.3 10p15.3 "CRFG|NGB|FLJ10690|FLJ10686|NOG1" "G protein-binding protein CRFG|GTP-binding protein" 2003-08-11 2023-01-20 23560 ENSG00000107937 OTTHUMG00000017538 uc001ift.4 AK001548 NM_012341 CCDS31132 Q9BZE4 11316846 MGI:1916487 RGD:620783 619169 470422 HGNC:21535 "ENST00000360803.9|NM_012341.3" HGNC:30189 GTPBP6 GTP binding protein 6 (putative) protein-coding gene gene with protein product Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 "PGPL|FLJ20977" pseudoautosomal GTP binding protein-like Pseudoautosomal region 1 715 2004-08-16 2023-01-20 8225 ENSG00000178605 OTTHUMG00000022694 uc033fcx.2 Y14391 NM_012227 CCDS75943 O43824 9466997 MGI:1306825 RGD:1305954 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GTPBP6 300124 HGNC:30189 "ENST00000326153.10|NM_012227.4" HGNC:25007 GTPBP8 GTP binding protein 8 (putative) protein-coding gene gene with protein product Approved 3q13.2 03q13.2 HSPC135 GTP-binding protein 8 (putative) 2006-01-09 2016-04-04 2023-01-20 29083 ENSG00000163607 OTTHUMG00000159268 uc003dzn.4 BC037163 NM_014170 "CCDS33821|CCDS33820" Q8N3Z3 MGI:1913317 RGD:1310025 HGNC:25007 "ENST00000383678.8|NM_014170.4" -HGNC:25106 GTPBP10 GTP binding protein 10 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 "DKFZP686A10121|FLJ38242|OBGH2" GTP-binding protein 10 (putative) 2006-08-15 2016-05-04 2023-01-20 85865 ENSG00000105793 OTTHUMG00000023655 uc003ukm.3 NM_033107 "CCDS43614|CCDS5617" A4D1E9 17054726 MGI:2385599 RGD:1305878 610920 HGNC:25106 "ENST00000222511.11|NM_033107.4" +HGNC:25106 GTPBP10 GTP binding protein 10 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 "DKFZP686A10121|FLJ38242|OBGH2" GTP-binding protein 10 (putative) 2006-08-15 2016-05-04 2023-01-20 85865 ENSG00000105793 OTTHUMG00000023655 uc003ukm.3 NM_033107 "CCDS5617|CCDS43614" A4D1E9 17054726 MGI:2385599 RGD:1305878 610920 HGNC:25106 "ENST00000222511.11|NM_033107.4" HGNC:18406 GTSCR1 Gilles de la Tourette syndrome chromosome region, candidate 1 non-coding RNA RNA, long non-coding Approved 18q22.2 18q22.2 Gilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2003-12-05 2017-01-19 2023-03-15 220158 ENSG00000263417 OTTHUMG00000178787 uc060pzy.1 AY262164 NR_160904 Q86UQ5 12682296 HGNC:18406 HGNC:13698 GTSE1 G2 and S-phase expressed 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "GTSE-1|B99|Lnc_bc060912" G-2 and S-phase expressed 1 2001-06-25 2015-12-11 2023-01-20 51512 ENSG00000075218 OTTHUMG00000150486 uc011aqy.2 AF223408 NM_016426 CCDS14074 Q9NYZ3 "10974554|10984615|12750368" MGI:1352755 RGD:1563164 607477 HGNC:13698 "ENST00000454366.2|NM_016426.7" HGNC:27163 GTSE1-DT GTSE1 divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 GTSE1-AS1 GTSE1 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-17 2018-03-22 2018-03-22 2018-03-22 150384 ENSG00000277232 OTTHUMG00000189497 BC015721 NR_024009 HGNC:27163 HGNC:26565 GTSF1 gametocyte specific factor 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "FLJ32942|Cue110" FAM112B family with sequence similarity 112, member B 2006-02-09 2007-11-27 2007-11-27 2023-01-20 121355 ENSG00000170627 OTTHUMG00000169842 uc001sgb.4 AK098819 NM_144594 CCDS8881 Q8WW33 27646122 MGI:1921424 RGD:1310791 617484 HGNC:26565 "ENST00000305879.8|NM_144594.3" -HGNC:16198 GTSF1L gametocyte specific factor 1 like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ1028D15.4 "C20orf65|FAM112A" "chromosome 20 open reading frame 65|family with sequence similarity 112, member A" 2001-07-17 2007-11-27 2016-06-17 2023-01-20 149699 ENSG00000124196 OTTHUMG00000032510 uc002xld.4 AK058060 NM_176791 "CCDS13323|CCDS33471" Q9H1H1 26930067 MGI:1915486 RGD:1306224 HGNC:16198 "ENST00000373003.2|NM_176791.4" -HGNC:4678 GUCA1A guanylate cyclase activator 1A protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "GCAP|GCAP1|COD3|dJ139D8.6|CORD14" cone dystrophy 3 "GUCA|GUCA1|C6orf131" "chromosome 6 open reading frame 131|guanylate cyclase activator 1A (retina)" EF-hand domain containing 863 1992-04-08 2015-11-19 2023-01-20 2978 ENSG00000048545 OTTHUMG00000014696 uc003orx.4 NM_001384910 P43080 9425234 MGI:102770 RGD:1308712 600364 122333 ligandId:9164 HGNC:4678 "ENST00000372958.2|NM_001384910.1" HGNC:4678 +HGNC:16198 GTSF1L gametocyte specific factor 1 like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ1028D15.4 "C20orf65|FAM112A" "chromosome 20 open reading frame 65|family with sequence similarity 112, member A" 2001-07-17 2007-11-27 2016-06-17 2023-01-20 149699 ENSG00000124196 OTTHUMG00000032510 uc002xld.4 AK058060 NM_176791 "CCDS33471|CCDS13323" Q9H1H1 26930067 MGI:1915486 RGD:1306224 HGNC:16198 "ENST00000373003.2|NM_176791.4" +HGNC:4678 GUCA1A guanylate cyclase activator 1A protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "GCAP|GCAP1|COD3|dJ139D8.6|CORD14|GCAP-I|GCAP-1" cone dystrophy 3 "GUCA|GUCA1|C6orf131" "chromosome 6 open reading frame 131|guanylate cyclase activator 1A (retina)" EF-hand domain containing 863 1992-04-08 2015-11-19 2023-06-14 2978 ENSG00000048545 OTTHUMG00000014696 uc003orx.4 NM_001384910 P43080 "9425234|19459154" MGI:102770 RGD:1308712 600364 122333 ligandId:9164 HGNC:4678 "ENST00000372958.2|NM_001384910.1" HGNC:4678 HGNC:56129 GUCA1ANB-GUCA1A GUCA1ANB-GUCA1A readthrough other readthrough Approved 6p21.1 06p21.1 2023-01-24 2023-01-24 118142757 ENSG00000290147 NM_000409 CCDS4864 -HGNC:4679 GUCA1B guanylate cyclase activator 1B protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "GCAP2|RP48" guanylate cyclase activator 1B (retina) EF-hand domain containing 863 1996-12-18 2015-11-19 2023-01-20 2979 ENSG00000112599 OTTHUMG00000014697 uc003orz.4 AF173227 NM_002098 CCDS4865 Q9UMX6 9119368 MGI:1194489 RGD:1308191 602275 201095 ligandId:9165 HGNC:4679 "ENST00000230361.4|NM_002098.6" HGNC:4679 -HGNC:4680 GUCA1C guanylate cyclase activator 1C protein-coding gene gene with protein product Approved 3q13.13 03q13.13 GCAP3 guanylyl cyclase-activating protein 3 EF-hand domain containing 863 1999-03-12 2023-01-20 9626 ENSG00000138472 OTTHUMG00000159204 uc003dxj.3 AF110002 NM_005459 "CCDS2954|CCDS87118" O95843 "10037746|11860507" 605128 HGNC:4680 "ENST00000261047.8|NM_005459.4" +HGNC:4679 GUCA1B guanylate cyclase activator 1B protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "GCAP2|RP48|GCAP-2|GCAP-II" guanylate cyclase activator 1B (retina) EF-hand domain containing 863 1996-12-18 2015-11-19 2023-06-14 2979 ENSG00000112599 OTTHUMG00000014697 uc003orz.4 AF173227 NM_002098 CCDS4865 Q9UMX6 "9119368|15452722" MGI:1194489 RGD:1308191 602275 201095 ligandId:9165 HGNC:4679 "ENST00000230361.4|NM_002098.6" HGNC:4679 +HGNC:4680 GUCA1C guanylate cyclase activator 1C protein-coding gene gene with protein product Approved 3q13.13 03q13.13 GCAP3 guanylyl cyclase-activating protein 3 EF-hand domain containing 863 1999-03-12 2023-06-14 9626 ENSG00000138472 OTTHUMG00000159204 uc003dxj.3 AF110002 NM_005459 "CCDS2954|CCDS87118" O95843 "10037746|11860507" 605128 HGNC:4680 "ENST00000261047.8|NM_005459.4" HGNC:4682 GUCA2A guanylate cyclase activator 2A protein-coding gene gene with protein product Approved 1p34.2 01p34.2 STARA prepro-guanylin GUCA2 guanylate cyclase activator 2A (guanylin) Receptor ligands 542 1993-05-06 2015-11-19 2023-01-20 2980 ENSG00000197273 OTTHUMG00000007023 uc001chd.2 X74322 NM_033553 CCDS465 Q02747 "1327879|7892222" MGI:102738 RGD:2766 139392 470424 ligandId:4945 HGNC:4682 "ENST00000357001.3|NM_033553.3" HGNC:4683 GUCA2B guanylate cyclase activator 2B protein-coding gene gene with protein product Approved 1p34.2 01p34.2 prepro-uroguanylin guanylate cyclase activator 2B (uroguanylin) Receptor ligands 542 1997-11-14 2015-11-19 2023-01-20 2981 ENSG00000044012 OTTHUMG00000007024 uc001chc.1 BC069301 NM_007102 CCDS464 Q16661 "8605041|9268639" MGI:1270851 RGD:620044 601271 ligandId:5084 HGNC:4683 "ENST00000372581.2|NM_007102.3" -HGNC:14237 GUCD1 guanylyl cyclase domain containing 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "MGC1842|LLN4" C22orf13 chromosome 22 open reading frame 13 2001-02-14 2012-11-13 2012-11-13 2023-01-20 83606 ENSG00000138867 OTTHUMG00000150728 uc003aah.4 AK054681 NM_031444 "CCDS33621|CCDS63426|CCDS74832|CCDS74831|CCDS74833|CCDS63427" Q96NT3 24743017 MGI:1916028 RGD:1597571 619171 HGNC:14237 "ENST00000435822.6|NM_001284254.2" -HGNC:4685 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 GC-SA3 "GUC1A3|GUCY1A3" "guanylate cyclase 1, soluble, alpha 3|guanylate cyclase 1 soluble subunit alpha" Soluble guanylate cyclases 820 1993-11-09 2017-11-24 2017-11-24 2023-01-20 2982 ENSG00000164116 OTTHUMG00000161700 uc003ioy.4 NM_000856 "CCDS54812|CCDS34085" Q02108 1352257 MGI:1926562 RGD:68436 139396 404138 objectId:1288 4.6.1.2 HGNC:4685 "ENST00000506455.6|NM_001130682.3" HGNC:4685 +HGNC:14237 GUCD1 guanylyl cyclase domain containing 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "MGC1842|LLN4" C22orf13 chromosome 22 open reading frame 13 2001-02-14 2012-11-13 2012-11-13 2023-01-20 83606 ENSG00000138867 OTTHUMG00000150728 uc003aah.4 AK054681 NM_031444 "CCDS33621|CCDS63427|CCDS63426|CCDS74831|CCDS74832|CCDS74833" Q96NT3 24743017 MGI:1916028 RGD:1597571 619171 HGNC:14237 "ENST00000435822.6|NM_001284254.2" +HGNC:4685 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 GC-SA3 "GUC1A3|GUCY1A3" "guanylate cyclase 1, soluble, alpha 3|guanylate cyclase 1 soluble subunit alpha" Soluble guanylate cyclases 820 1993-11-09 2017-11-24 2017-11-24 2023-01-20 2982 ENSG00000164116 OTTHUMG00000161700 uc003ioy.4 NM_000856 "CCDS34085|CCDS54812" Q02108 1352257 MGI:1926562 RGD:68436 139396 404138 objectId:1288 4.6.1.2 HGNC:4685 "ENST00000506455.6|NM_001130682.3" HGNC:4685 HGNC:4684 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 GC-SA2 GUC1A2 guanylate cyclase 1, soluble, alpha 2 Soluble guanylate cyclases 820 1993-11-09 2016-06-21 2023-01-20 2977 ENSG00000152402 OTTHUMG00000166296 uc001pjg.3 X63282 NM_001256424 "CCDS8335|CCDS58170" P33402 1683630 MGI:2660877 RGD:621655 601244 objectId:1289 4.6.1.2 HGNC:4684 "ENST00000526355.7|NM_000855.3" -HGNC:4687 GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "GC-SB3|GC-S-beta-1" "GUC1B3|GUCY1B3" "guanylate cyclase 1, soluble, beta 3|guanylate cyclase 1 soluble subunit beta" Soluble guanylate cyclases 820 1993-11-09 2017-11-24 2017-11-24 2023-01-20 2983 ENSG00000061918 OTTHUMG00000161698 uc003ipc.4 AF020340 NM_000857 "CCDS77977|CCDS75203|CCDS77975|CCDS77976|CCDS47154|CCDS77978" Q02153 1352257 MGI:1860604 RGD:2769 139397 objectId:1290 4.6.1.2 HGNC:4687 "ENST00000264424.13|NM_000857.5" +HGNC:4687 GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "GC-SB3|GC-S-beta-1" "GUC1B3|GUCY1B3" "guanylate cyclase 1, soluble, beta 3|guanylate cyclase 1 soluble subunit beta" Soluble guanylate cyclases 820 1993-11-09 2017-11-24 2017-11-24 2023-01-20 2983 ENSG00000061918 OTTHUMG00000161698 uc003ipc.4 AF020340 NM_000857 "CCDS77978|CCDS77977|CCDS75203|CCDS77975|CCDS47154|CCDS77976" Q02153 1352257 MGI:1860604 RGD:2769 139397 objectId:1290 4.6.1.2 HGNC:4687 "ENST00000264424.13|NM_000857.5" HGNC:4686 GUCY1B2 guanylate cyclase 1 soluble subunit beta 2 (pseudogene) pseudogene pseudogene Approved 13q14.3 13q14.3 GC-SB2 "guanylate cyclase 1, soluble, beta 2|guanylate cyclase 1 solube subunit beta 2 (pseudogene)" Soluble guanylate cyclases 820 1998-05-26 2016-06-21 2023-03-15 2974 ENSG00000123201 OTTHUMG00000016940 AF038499 NR_003923 O75343 "9889008|10449911" MGI:2660873 RGD:2770 603695 objectId:1291 4.6.1.2 HGNC:4686 -HGNC:4688 GUCY2C guanylate cyclase 2C protein-coding gene gene with protein product Approved 12p12.3 12p12.3 STAR "STA receptor|heat stable enterotoxin receptor" GUC2C guanylate cyclase 2C (heat stable enterotoxin receptor) Transmembrane guanylate cyclases 343 1994-04-15 2014-12-18 2023-01-20 2984 ENSG00000070019 OTTHUMG00000168732 uc001rcd.4 NM_004963 CCDS8664 P25092 8661067 MGI:106903 RGD:2771 601330 317726 objectId:1750 HGNC:4688 "ENST00000261170.5|NM_004963.4" HGNC:4688 -HGNC:56054 GUCY2C-AS1 GUCY2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.3 12p12.3 Antisense RNAs 1987 2021-12-09 2021-12-09 123706531 ENSG00000214772 -HGNC:4689 GUCY2D guanylate cyclase 2D, retinal protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "retGC|RETGC-1|ROS-GC1|CYGD|LCA1" "rod outer segment membrane guanylate cyclase|retinal guanylate cyclase 1" "CORD6|LCA|GUC2D|GUC1A4" "cone rod dystrophy 6|guanylate cyclase 2D, membrane (retina-specific)" Transmembrane guanylate cyclases 343 1993-11-09 2016-03-30 2023-01-20 3000 ENSG00000132518 OTTHUMG00000108169 uc002gjt.3 L26921 NM_000180 CCDS11127 Q02846 "1356371|12552567" MGI:105123 RGD:620438 Mutations of the Retinal Guanylate Cyclase Gene and the Retinal Guanylate Cyclase-activating Protein Gene|http://www.retina-international.org/files/sci-news/gcmut.htm 600179 122340 objectId:2031 HGNC:4689 "ENST00000254854.5|NM_000180.4" HGNC:4689 +HGNC:4688 GUCY2C guanylate cyclase 2C protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "STAR|HSER|GC-C|GCC" "STA receptor|heat stable enterotoxin receptor|Guanylyl cyclase C" GUC2C guanylate cyclase 2C (heat stable enterotoxin receptor) Transmembrane guanylate cyclases 343 1994-04-15 2014-12-18 2023-06-14 2984 ENSG00000070019 OTTHUMG00000168732 uc001rcd.4 NM_004963 CCDS8664 P25092 "8661067|22436048" MGI:106903 RGD:2771 601330 317726 objectId:1750 4.6.1.2 HGNC:4688 "ENST00000261170.5|NM_004963.4" HGNC:4688 +HGNC:56054 GUCY2C-AS1 GUCY2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.3 12p12.3 Antisense RNAs 1987 2021-12-09 2021-12-09 123706531 ENSG00000214772 NR_186173 +HGNC:4689 GUCY2D guanylate cyclase 2D, retinal protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "retGC|RETGC-1|ROS-GC1|CYGD|LCA1|ROS-GC" "rod outer segment membrane guanylate cyclase|retinal guanylate cyclase 1|Leber congenital amaurosis 1" "CORD6|LCA|GUC2D|GUC1A4" "cone rod dystrophy 6|guanylate cyclase 2D, membrane (retina-specific)" Transmembrane guanylate cyclases 343 1993-11-09 2016-03-30 2023-06-14 3000 ENSG00000132518 OTTHUMG00000108169 uc002gjt.3 L26921 NM_000180 CCDS11127 Q02846 "1356371|12552567|25256176" MGI:105123 RGD:620438 Mutations of the Retinal Guanylate Cyclase Gene and the Retinal Guanylate Cyclase-activating Protein Gene|http://www.retina-international.org/files/sci-news/gcmut.htm 600179 122340 objectId:2031 4.6.1.2 HGNC:4689 "ENST00000254854.5|NM_000180.4" HGNC:4689 HGNC:4690 GUCY2EP guanylate cyclase 2E, pseudogene pseudogene pseudogene Approved 11q13.5 11q13.5 GC-E GUCY2E guanylate cyclase 2E Transmembrane guanylate cyclases 343 1997-12-05 2012-07-05 2012-07-05 2014-11-19 390226 ENSG00000204529 OTTHUMG00000165247 NR_024042 8838319 601138 PGOHUM00000257844 HGNC:4690 HGNC:4691 GUCY2F guanylate cyclase 2F, retinal protein-coding gene gene with protein product Approved Xq22.3-q23 Xq22.3-q23 "GUC2DL|GC-F|RetGC-2|ROS-GC2|CYGF" guanylate cyclase 2D-like, membrane (retina-specific) Transmembrane guanylate cyclases 343 1997-12-05 2023-01-20 2986 ENSG00000101890 OTTHUMG00000022184 uc065aqx.1 L37378 NM_001522 CCDS14545 P51841 "8838319|7777544" MGI:105119 RGD:620439 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GUCY2F 300041 objectId:2899 HGNC:4691 "ENST00000218006.3|NM_001522.3" HGNC:31863 GUCY2GP guanylate cyclase 2G, pseudogene pseudogene pseudogene Approved 10q25.2 10q25.2 GUCY2G guanylate cyclase 2G homolog (mouse), pseudogene Transmembrane guanylate cyclases 343 2007-03-21 2010-03-12 2012-12-07 2020-08-14 390003 ENSG00000243316 OTTHUMG00000019058 XM_497249 MGI:106025 objectId:2900 HGNC:31863 HGNC:25799 GUF1 GTP binding elongation factor GUF1 protein-coding gene gene with protein product Approved 4p12 04p12 FLJ13220 "GUF1 GTPase homolog (S. cerevisiae)|GUF1 homolog, GTPase" 2006-02-14 2020-10-08 2023-01-20 60558 ENSG00000151806 OTTHUMG00000128608 uc003gww.5 NM_021927 CCDS3468 Q8N442 "8553703|26486472" MGI:2140726 RGD:1310774 617064 461782 HGNC:25799 "ENST00000281543.6|NM_021927.3" HGNC:25799 -HGNC:4693 GUK1 guanylate kinase 1 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 2001-06-22 2023-01-20 2987 ENSG00000143774 OTTHUMG00000039503 uc021pke.2 BC006249 NM_000858 "CCDS53481|CCDS55689|CCDS1568" Q16774 8647247 MGI:95871 RGD:1309638 139270 2.7.4.8 HGNC:4693 "ENST00000312726.9|NM_000858.7" +HGNC:4693 GUK1 guanylate kinase 1 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 2001-06-22 2023-01-20 2987 ENSG00000143774 OTTHUMG00000039503 uc021pke.2 BC006249 NM_000858 "CCDS53481|CCDS1568|CCDS55689" Q16774 8647247 MGI:95871 RGD:1309638 139270 2.7.4.8 HGNC:4693 "ENST00000312726.9|NM_000858.7" HGNC:4694 GUK2 guanylate kinase 2 other unknown Approved 1q32.1-q42 01q32.1-q42 2001-06-22 2013-03-18 2988 "5036631|4377261" 139280 2.7.4.8 HGNC:4695 GULOP gulonolactone (L-) oxidase, pseudogene pseudogene pseudogene Approved 8p21.1 08p21.1 "GULO|scurvy" 1991-08-13 2009-12-08 2020-08-14 2989 ENSG00000234770 OTTHUMG00000154895 D17460 NG_001136 "8175804|3214183" MGI:1353434 240400 HGNC:4695 -HGNC:18649 GULP1 GULP PTB domain containing engulfment adaptor 1 protein-coding gene gene with protein product Approved 2q32.1-q32.2 02q32.1-q32.2 "CED6|CED-6|GULP" GULP engulfment adaptor PTB domain containing 1 MicroRNA protein coding host genes 1691 2004-01-13 2018-08-15 2023-01-20 51454 ENSG00000144366 OTTHUMG00000132647 uc002uqf.4 AF191771 NM_016315 "CCDS58742|CCDS2295|CCDS58743|CCDS92915|CCDS92916" Q9UBP9 11729193 MGI:1920407 RGD:1306380 608165 HGNC:18649 "ENST00000409830.6|NM_016315.4" +HGNC:18649 GULP1 GULP PTB domain containing engulfment adaptor 1 protein-coding gene gene with protein product Approved 2q32.1-q32.2 02q32.1-q32.2 "CED6|CED-6|GULP" GULP engulfment adaptor PTB domain containing 1 MicroRNA protein coding host genes 1691 2004-01-13 2018-08-15 2023-01-20 51454 ENSG00000144366 OTTHUMG00000132647 uc002uqf.4 AF191771 NM_016315 "CCDS92915|CCDS58742|CCDS92916|CCDS2295|CCDS58743" Q9UBP9 11729193 MGI:1920407 RGD:1306380 608165 HGNC:18649 "ENST00000409830.6|NM_016315.4" HGNC:4696 GUSB glucuronidase beta protein-coding gene gene with protein product Approved 7q11.21 07q11.21 glucuronidase, beta Glycoside hydrolases 1650 2001-06-22 2016-03-14 2023-01-20 2990 ENSG00000169919 OTTHUMG00000023735 uc003tun.4 M15182 NM_000181 "CCDS64665|CCDS5530" P08236 3468507 MGI:95872 RGD:2772 611499 122352 3.2.1.31 HGNC:4696 "ENST00000304895.9|NM_000181.4" HGNC:4696 HGNC:13670 GUSBP1 GUSB pseudogene 1 pseudogene pseudogene Approved 5p14.3 05p14.3 glucuronidase, beta pseudogene 1 2006-07-28 2019-01-21 2020-04-20 728411 ENSG00000183666 OTTHUMG00000162474 "BC064850|X75940" NG_008324 Q15486 8565635 HGNC:13670 HGNC:18792 GUSBP2 GUSB pseudogene 2 pseudogene pseudogene Approved 6p22.2 06p22.2 "bA239L20.5|bA239L20.1|SMA3-L|bGLU-Lp|SMAC3L" "SMAC3L2|GUSBL1" "spinal muscular atrophy candidate gene 3-like 2|glucuronidase, beta-like 1|glucuronidase, beta pseudogene 2" 2003-11-26 2011-06-09 2019-01-21 2019-01-21 387036 ENSG00000241549 OTTHUMG00000014462 NR_003504 HGNC:18792 @@ -11057,8 +11058,8 @@ HGNC:55770 GUSBP18 GUSB pseudogene 18 pseudogene pseudogene Approved 5p13.2 05p1 HGNC:55771 GUSBP19 GUSB pseudogene 19 pseudogene pseudogene Approved 5q21.1 05q21.1 2021-07-22 2021-07-22 100133050 ENSG00000275374 NR_027503 PGOHUM00000306593 HGNC:25813 GVINP1 GTPase, very large interferon inducible pseudogene 1 pseudogene pseudogene Approved 11p15.4 11p15.4 "VLIG-1|FLJ13373|VLIG1" very large inducible GTPase 1 "GVIN1|GVIN1P" "GTPase, very large interferon inducible 1|GTPase, very large interferon inducible 1, pseudogene" 2005-02-16 2010-09-28 2010-09-28 2014-03-18 387751 ENSG00000254838 OTTHUMG00000165506 BX538318 NR_003945 Q7Z2Y8 "12874213|19369598" "MGI:1921808|MGI:3782245" RGD:1598220 616121 PGOHUM00000242161 HGNC:25813 HGNC:38876 GVINP2 GTPase, very large interferon inducible pseudogene 2 pseudogene pseudogene Approved 11p15.4 11p15.4 2010-10-21 2017-10-25 100128135 ENSG00000254781 OTTHUMG00000165734 XR_078437 19369598 HGNC:38876 -HGNC:51239 GVQW3 GVQW motif containing 3 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 2017-10-18 2023-01-20 100506127 ENSG00000179240 OTTHUMG00000165281 NM_001282456 "CCDS86231|CCDS81599|CCDS73348|CCDS91541" Q3ZCU0 RGD:11455558 HGNC:51239 "ENST00000529331.2|NM_001347885.2" -HGNC:27482 GXYLT1 glucoside xylosyltransferase 1 protein-coding gene gene with protein product Approved 12q12 12q12 FLJ43151 GLT8D3 glycosyltransferase 8 domain containing 3 Glycosyltransferase family 8 436 2006-01-24 2009-11-17 2009-11-17 2023-01-20 283464 ENSG00000151233 OTTHUMG00000169379 uc001rms.5 BC015597 NM_173601 "CCDS41771|CCDS41772" Q4G148 19940119 MGI:2684933 RGD:1563062 613321 2.4.2.n2 HGNC:27482 "ENST00000398675.8|NM_173601.2" +HGNC:51239 GVQW3 GVQW motif containing 3 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 2017-10-18 2023-01-20 100506127 ENSG00000179240 OTTHUMG00000165281 NM_001282456 "CCDS73348|CCDS91541|CCDS81599|CCDS86231" Q3ZCU0 HGNC:51239 "ENST00000529331.2|NM_001347885.2" +HGNC:27482 GXYLT1 glucoside xylosyltransferase 1 protein-coding gene gene with protein product Approved 12q12 12q12 FLJ43151 GLT8D3 glycosyltransferase 8 domain containing 3 Glycosyltransferase family 8 436 2006-01-24 2009-11-17 2009-11-17 2023-01-20 283464 ENSG00000151233 OTTHUMG00000169379 uc001rms.5 BC015597 NM_173601 "CCDS41772|CCDS41771" Q4G148 19940119 MGI:2684933 RGD:1563062 613321 2.4.2.n2 HGNC:27482 "ENST00000398675.8|NM_173601.2" HGNC:39676 GXYLT1P1 GXYLT1 pseudogene 1 pseudogene pseudogene Approved 13q11 13q11 glucoside xylosyltransferase 1 pseudogene 1 2011-03-22 2019-12-19 2019-12-19 100101111 ENSG00000230931 OTTHUMG00000016459 NG_006142 PGOHUM00000248288 HGNC:39676 HGNC:39677 GXYLT1P2 GXYLT1 pseudogene 2 pseudogene pseudogene Approved 21q11.2 21q11.2 glucoside xylosyltransferase 1 pseudogene 2 2011-03-22 2019-12-19 2019-12-19 441958 ENSG00000224860 OTTHUMG00000074230 NG_006139 PGOHUM00000239025 HGNC:39677 HGNC:50422 GXYLT1P3 GXYLT1 pseudogene 3 pseudogene pseudogene Approved 9p11.2 09p11.2 glucoside xylosyltransferase 1 pseudogene 3 2014-04-25 2019-12-19 2019-12-19 100132541 ENSG00000232433 OTTHUMG00000067497 NG_021650 PGOHUM00000304200 HGNC:50422 @@ -11067,25 +11068,25 @@ HGNC:50424 GXYLT1P5 GXYLT1 pseudogene 5 pseudogene pseudogene Approved 9p11.1 09 HGNC:50425 GXYLT1P6 GXYLT1 pseudogene 6 pseudogene pseudogene Approved 9q13 09q13 glucoside xylosyltransferase 1 pseudogene 6 2014-04-25 2019-12-19 2019-12-19 100132672 ENSG00000235310 OTTHUMG00000013327 NG_021660 PGOHUM00000236617 HGNC:50425 HGNC:54735 GXYLT1P7 GXYLT1 pseudogene 7 pseudogene pseudogene Approved 2q11.1 02q11.1 2019-12-19 2019-12-19 100130488 ENSG00000227265 NG_021514 HGNC:33383 GXYLT2 glucoside xylosyltransferase 2 protein-coding gene gene with protein product Approved 3p13 03p13 GLT8D4 glycosyltransferase 8 domain containing 4 Glycosyltransferase family 8 436 2007-04-12 2009-11-17 2009-11-17 2023-01-20 727936 ENSG00000172986 OTTHUMG00000158815 uc003dpg.4 AC098481 NM_001080393 CCDS46870 A0PJZ3 19940119 MGI:2682940 RGD:1586482 613322 HGNC:33383 "ENST00000389617.9|NM_001080393.2" -HGNC:4699 GYG1 glycogenin 1 protein-coding gene gene with protein product Approved 3q24 03q24 glycogenin glucosyltransferase GYG glycogenin Glycosyltransferase family 8 436 1997-07-22 2005-11-04 2005-11-04 2023-01-20 2992 ENSG00000163754 OTTHUMG00000159533 uc003ewo.4 AF087942 NM_004130 "CCDS3139|CCDS54655|CCDS54654" P46976 8602861 MGI:1351614 RGD:621785 603942 269704 2.4.1.186 HGNC:4699 "ENST00000345003.9|NM_004130.4" HGNC:4699 +HGNC:4699 GYG1 glycogenin 1 protein-coding gene gene with protein product Approved 3q24 03q24 glycogenin glucosyltransferase GYG glycogenin Glycosyltransferase family 8 436 1997-07-22 2005-11-04 2005-11-04 2023-01-20 2992 ENSG00000163754 OTTHUMG00000159533 uc003ewo.4 AF087942 NM_004130 "CCDS54654|CCDS3139|CCDS54655" P46976 8602861 MGI:1351614 RGD:621785 603942 269704 2.4.1.186 HGNC:4699 "ENST00000345003.9|NM_004130.4" HGNC:4699 HGNC:39712 GYG1P1 glycogenin 1 pseudogene 1 pseudogene pseudogene Approved 8q21.11 08q21.11 2011-03-23 2011-03-23 100132965 ENSG00000251633 OTTHUMG00000160472 NG_021230 PGOHUM00000249391 HGNC:39712 HGNC:39710 GYG1P2 glycogenin 1 pseudogene 2 pseudogene pseudogene Approved 13q31.1 13q31.1 2011-03-23 2014-11-19 647317 ENSG00000237099 OTTHUMG00000017148 NG_021231 PGOHUM00000248649 HGNC:39710 HGNC:39711 GYG1P3 glycogenin 1 pseudogene 3 pseudogene pseudogene Approved 1p32.3 01p32.3 2011-03-23 2014-11-19 645506 ENSG00000231095 OTTHUMG00000008215 NG_021229 PGOHUM00000244731 HGNC:39711 -HGNC:4700 GYG2 glycogenin 2 protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 GN-2 glycogenin glucosyltransferase Glycosyltransferase family 8 436 1999-01-12 2023-01-20 8908 ENSG00000056998 OTTHUMG00000021079 uc004cqs.2 U94361 NM_003918 "CCDS55365|CCDS48074|CCDS14121" O15488 9857012 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GYG2 300198 2.4.1.186 HGNC:4700 "ENST00000398806.8|NM_001079855.2" +HGNC:4700 GYG2 glycogenin 2 protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 GN-2 glycogenin glucosyltransferase Glycosyltransferase family 8 436 1999-01-12 2023-01-20 8908 ENSG00000056998 OTTHUMG00000021079 uc004cqs.2 U94361 NM_003918 "CCDS14121|CCDS55365|CCDS48074" O15488 9857012 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GYG2 300198 2.4.1.186 HGNC:4700 "ENST00000398806.8|NM_001079855.2" HGNC:40270 GYG2-AS1 GYG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.33 Xp22.33 GYG2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873938 ENSG00000235483 OTTHUMG00000021074 uc064xvg.1 GYG2-AS1 HGNC:4701 GYG2P1 glycogenin 2 pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 GYG2P glycogenin 2 pseudogene 1999-05-17 2010-03-19 2010-03-19 2010-07-02 352887 ENSG00000206159 OTTHUMG00000036382 NG_002811 10542153 HGNC:4701 HGNC:39713 GYG2P2 glycogenin 2 pseudogene 2 pseudogene pseudogene Approved 1q32.1 01q32.1 2011-03-23 2011-03-23 100418892 NG_027191 PGOHUM00000256886 HGNC:39713 -HGNC:4702 GYPA glycophorin A (MNS blood group) protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "GPA|MN|CD235a|PAS-2" "glycophorinA|MN sialoglycoprotein|sialoglycoprotein alpha" MNS "glycophorin A (includes MN blood group)|glycophorin A (MN blood group)" "Blood group antigens|CD molecules" "454|471" 2001-06-22 2006-02-23 2023-01-20 2993 ENSG00000170180 OTTHUMG00000161403 uc003ijo.5 M36281 NM_002099 "CCDS82959|CCDS77965|CCDS34069" P02724 3456608 MGI:95880 RGD:1582935 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_793|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_793.xml" 617922 470426 CD235a HGNC:4702 "ENST00000641688.3|NM_002099.8" -HGNC:4703 GYPB glycophorin B (MNS blood group) protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "GPB|SS|CD235b|PAS-3" "Ss sialoglycoprotein|Sialoglycoprotein delta" MNS "glycophorin B (includes Ss blood group)|glycophorin B (Ss blood group)" "Blood group antigens|CD molecules" "454|471" 1988-08-31 2006-02-23 2023-01-20 2994 ENSG00000250361 OTTHUMG00000161404 uc003ijm.2 NM_002100 "CCDS54809|CCDS87264" P06028 "7806496|2734312" MGI:95880 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_794|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_794.xml" 617923 CD235b HGNC:4703 "ENST00000502664.6|NM_002100.6" -HGNC:4704 GYPC glycophorin C (Gerbich blood group) protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "GPC|GYPD|Ge|CD236|CD236R" "Blood group antigens|CD molecules" "454|471" 2001-06-22 2023-01-20 2995 ENSG00000136732 OTTHUMG00000131464 uc002tnq.5 NM_002101 "CCDS46402|CCDS2136|CCDS58724" P04921 MGI:1098566 RGD:1310295 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_813|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_813.xml" 110750 398416 CD236R HGNC:4704 "ENST00000259254.9|NM_002101.5" HGNC:4704 +HGNC:4702 GYPA glycophorin A (MNS blood group) protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "GPA|MN|CD235a|PAS-2" "glycophorinA|MN sialoglycoprotein|sialoglycoprotein alpha" MNS "glycophorin A (includes MN blood group)|glycophorin A (MN blood group)" "Blood group antigens|CD molecules" "454|471" 2001-06-22 2006-02-23 2023-01-20 2993 ENSG00000170180 OTTHUMG00000161403 uc003ijo.5 M36281 NM_002099 "CCDS82959|CCDS34069|CCDS77965" P02724 3456608 MGI:95880 RGD:1582935 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_793|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_793.xml" 617922 470426 CD235a HGNC:4702 "ENST00000641688.3|NM_002099.8" +HGNC:4703 GYPB glycophorin B (MNS blood group) protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "GPB|SS|CD235b|PAS-3" "Ss sialoglycoprotein|Sialoglycoprotein delta" MNS "glycophorin B (includes Ss blood group)|glycophorin B (Ss blood group)" "Blood group antigens|CD molecules" "454|471" 1988-08-31 2006-02-23 2023-01-20 2994 ENSG00000250361 OTTHUMG00000161404 uc003ijm.2 NM_002100 "CCDS87264|CCDS54809" P06028 "7806496|2734312" MGI:95880 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_794|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_794.xml" 617923 CD235b HGNC:4703 "ENST00000502664.6|NM_002100.6" +HGNC:4704 GYPC glycophorin C (Gerbich blood group) protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "GPC|GYPD|Ge|CD236|CD236R" "Blood group antigens|CD molecules" "454|471" 2001-06-22 2023-01-20 2995 ENSG00000136732 OTTHUMG00000131464 uc002tnq.5 NM_002101 "CCDS58724|CCDS46402|CCDS2136" P04921 MGI:1098566 RGD:1310295 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_813|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_813.xml" 110750 398416 CD236R HGNC:4704 "ENST00000259254.9|NM_002101.5" HGNC:4704 HGNC:4705 GYPE glycophorin E (MNS blood group) protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "GPE|MNS" glycophorin E Blood group antigens 454 1990-09-10 2010-01-19 2023-01-20 2996 ENSG00000197465 OTTHUMG00000161402 uc003ijj.4 NM_002102 CCDS47138 P15421 MGI:95880 Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 138590 HGNC:4705 "ENST00000358615.9|NM_198682.3" -HGNC:4706 GYS1 glycogen synthase 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 GSY GYS glycogen synthase 1 (muscle) Glycosyl transferases group 1 domain containing 427 1992-08-25 2015-12-04 2023-01-20 2997 ENSG00000104812 OTTHUMG00000150723 uc002plp.4 NM_002103 "CCDS12747|CCDS54292" P13807 MGI:101805 RGD:1589798 138570 160283 2.4.1.11 HGNC:4706 "ENST00000323798.8|NM_002103.5" HGNC:4706 +HGNC:4706 GYS1 glycogen synthase 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 GSY GYS glycogen synthase 1 (muscle) Glycosyl transferases group 1 domain containing 427 1992-08-25 2015-12-04 2023-01-20 2997 ENSG00000104812 OTTHUMG00000150723 uc002plp.4 NM_002103 "CCDS54292|CCDS12747" P13807 MGI:101805 RGD:1589798 138570 160283 2.4.1.11 HGNC:4706 "ENST00000323798.8|NM_002103.5" HGNC:4706 HGNC:4707 GYS2 glycogen synthase 2 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 glycogen synthase 2 (liver) Glycosyl transferases group 1 domain containing 427 1993-09-24 2015-12-04 2023-01-20 2998 ENSG00000111713 OTTHUMG00000169135 uc001rfb.3 NM_021957 CCDS8690 P54840 MGI:2385254 RGD:2773 LRG_1293|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1293.xml 138571 122354 2.4.1.11 HGNC:4707 "ENST00000261195.3|NM_021957.4" HGNC:4707 HGNC:15808 GZF1 GDNF inducible zinc finger protein 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ322G13.2|ZBTB23" ZNF336 zinc finger protein 336 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2001-09-17 2006-09-19 2016-02-12 2023-01-20 64412 ENSG00000125812 OTTHUMG00000032069 uc002wsy.4 AK025447 NM_022482 CCDS13151 Q9H116 "14522971|16049025" MGI:1921783 RGD:1562321 613842 HGNC:15808 "ENST00000338121.10|NM_022482.5" HGNC:15808 HGNC:4708 GZMA granzyme A protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "CTL tryptase|Cytotoxic T-lymphocyte-associated serine esterase-3|Hanukah factor serine protease)|granzyme 1" "HFSP|CTLA3" granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) Granule associated serine proteases of immune defence 1636 1988-05-31 2015-11-16 2023-01-20 3001 ENSG00000145649 OTTHUMG00000097011 uc003jpm.4 NM_006144 CCDS3965 P12544 "3262682|3533635" MGI:109266 RGD:628640 140050 S01.135 objectId:2368 HGNC:4708 "ENST00000274306.7|NM_006144.4" HGNC:44137 GZMAP1 granzyme A pseudogene 1 pseudogene pseudogene Approved 5q11.2 05q11.2 granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) pseudogene 1 2012-06-29 2015-11-16 2015-11-16 106479035 ENSG00000249454 OTTHUMG00000162199 NG_044381 PGOHUM00000235592 HGNC:44137 HGNC:4709 GZMB granzyme B protein-coding gene gene with protein product Approved 14q12 14q12 "CCPI|CGL-1|CSP-B|CGL1|CTSGL1|HLP|SECT" "fragmentin 2|cytotoxic serine protease B|cathepsin G-like 1|T-cell serine protease 1-3E|granzyme 2|cytotoxic T-lymphocyte-associated serine esterase 1" "CTLA1|CSPB" granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) Granule associated serine proteases of immune defence 1636 1989-05-12 2015-11-16 2023-01-20 3002 ENSG00000100453 OTTHUMG00000029369 uc001wps.4 BC030195 NM_004131 "CCDS9633|CCDS86381" P10144 2323780 MGI:109265 RGD:620018 123910 S01.010 objectId:2369 HGNC:4709 "ENST00000216341.9|NM_004131.6" -HGNC:4710 GZMH granzyme H protein-coding gene gene with protein product Approved 14q12 14q12 "CGL-2|CCP-X|CTLA1|CSP-C" cathepsin G-like 2, protein h-CCPX CTSGL2 granzyme H (cathepsin G-like 2, protein h-CCPX) Granule associated serine proteases of immune defence 1636 1990-04-09 2015-11-16 2023-01-20 2999 ENSG00000100450 OTTHUMG00000140185 uc001wpr.3 M72150 NM_033423 "CCDS9632|CCDS59243" P20718 2049336 "MGI:109253|MGI:109254|MGI:109255|MGI:109265" RGD:628603 116831 S01.147 HGNC:4710 "ENST00000216338.9|NM_033423.5" +HGNC:4710 GZMH granzyme H protein-coding gene gene with protein product Approved 14q12 14q12 "CGL-2|CCP-X|CTLA1|CSP-C" cathepsin G-like 2, protein h-CCPX CTSGL2 granzyme H (cathepsin G-like 2, protein h-CCPX) Granule associated serine proteases of immune defence 1636 1990-04-09 2015-11-16 2023-01-20 2999 ENSG00000100450 OTTHUMG00000140185 uc001wpr.3 M72150 NM_033423 "CCDS59243|CCDS9632" P20718 2049336 "MGI:109253|MGI:109254|MGI:109255|MGI:109265" RGD:628603 116831 S01.147 HGNC:4710 "ENST00000216338.9|NM_033423.5" HGNC:4711 GZMK granzyme K protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "TRYP2|PRSS" tryptase II "granzyme K (serine protease, granzyme 3; tryptase II)|granzyme K (granzyme 3; tryptase II)" Granule associated serine proteases of immune defence 1636 1995-08-31 2015-11-16 2023-01-20 3003 ENSG00000113088 OTTHUMG00000097009 uc003jpl.2 BC035802 NM_002104 CCDS3964 P49863 7758581 MGI:1298232 RGD:68401 600784 S01.146 objectId:2370 HGNC:4711 "ENST00000231009.3|NM_002104.3" HGNC:4712 GZMM granzyme M protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MET1|LMET1" lymphocyte met-ase 1 granzyme M (lymphocyte met-ase 1) Granule associated serine proteases of immune defence 1636 1994-10-12 2015-11-16 2023-01-20 3004 ENSG00000197540 OTTHUMG00000180559 uc002low.4 NM_005317 "CCDS74240|CCDS12031" P51124 8119738 MGI:99549 RGD:620022 600311 S01.139 HGNC:4712 "ENST00000264553.6|NM_005317.4" HGNC:4714 H1-0 H1.0 linker histone protein-coding gene gene with protein product Approved 22q13.1 22q13.1 H1.0 H1.0, H1(0), H1-0 "H1FV|H1F0" "H1 histone family, member 0|H1 histone family member 0" H1 histones 1935 1988-07-20 2019-07-22 2019-07-22 2023-01-20 3005 ENSG00000189060 OTTHUMG00000150659 uc003aty.4 X03473 NM_005318 CCDS13956 P07305 3084796 MGI:95893 RGD:2777 142708 HGNC:4714 "ENST00000340857.4|NM_005318.4" @@ -11139,7 +11140,7 @@ HGNC:53962 H2AQ1P H2A.Q variant histone 1, pseudogene pseudogene pseudogene Appr HGNC:4739 H2AX H2A.X variant histone protein-coding gene gene with protein product Approved 11q23.3 11q23.3 H2AFX "H2A histone family, member X|H2A histone family member X" H2A histones 1936 1994-11-22 2019-07-23 2019-07-23 2023-01-20 3014 ENSG00000188486 OTTHUMG00000166196 uc001pvg.4 X14850 NM_002105 CCDS8410 P16104 8076949 MGI:102688 RGD:1566119 601772 HGNC:4739 "ENST00000530167.2|NM_002105.3" HGNC:4741 H2AZ1 H2A.Z variant histone 1 protein-coding gene gene with protein product Approved 4q23 04q23 H2A.Z "H2AZ|H2AFZ" "H2A histone family, member Z|H2A histone family member Z" H2A histones 1936 1993-10-28 2019-07-23 2019-07-23 2023-01-20 3015 ENSG00000164032 OTTHUMG00000131048 uc003hvo.2 X52317 NM_002106 CCDS3654 P0C0S5 1697587 MGI:1888388 RGD:621464 142763 HGNC:4741 "ENST00000296417.6|NM_002106.4" HGNC:40271 H2AZ1-DT H2AZ1 divergent transcript non-coding RNA RNA, long non-coding Approved 4q23 04q23 Divergent transcripts 1990 2019-08-07 2019-08-07 256880 ENSG00000245322 OTTHUMG00000161022 NR_125923 HGNC:40271 -HGNC:20664 H2AZ2 H2A.Z variant histone 2 protein-coding gene gene with protein product Approved 7p13 07p13 "MGC10170|MGC10831|MGC1947" "H2AV|H2AFV" "H2A histone family, member V|H2A histone family member V" H2A histones 1936 2004-01-16 2019-07-23 2019-07-23 2023-01-20 94239 ENSG00000105968 OTTHUMG00000129217 uc003tma.3 AF081192 NM_012412 "CCDS47581|CCDS5495|CCDS5498|CCDS5497|CCDS5496" Q71UI9 MGI:1924855 RGD:1587865 620008 HGNC:20664 "ENST00000308153.9|NM_012412.5" +HGNC:20664 H2AZ2 H2A.Z variant histone 2 protein-coding gene gene with protein product Approved 7p13 07p13 "MGC10170|MGC10831|MGC1947" "H2AV|H2AFV" "H2A histone family, member V|H2A histone family member V" H2A histones 1936 2004-01-16 2019-07-23 2019-07-23 2023-01-20 94239 ENSG00000105968 OTTHUMG00000129217 uc003tma.3 AF081192 NM_012412 "CCDS5497|CCDS5496|CCDS5495|CCDS47581|CCDS5498" Q71UI9 MGI:1924855 RGD:1587865 620008 HGNC:20664 "ENST00000308153.9|NM_012412.5" HGNC:52775 H2AZ2-DT H2AZ2 divergent transcript non-coding RNA RNA, long non-coding Approved 7p13 07p13 AC004854.4 LINC01952 long intergenic non-protein coding RNA 1952 Divergent transcripts 1990 2016-12-09 2021-07-05 2021-07-05 2021-07-05 105375261 ENSG00000234183 OTTHUMG00000155819 XR_927227 27836685 HGNC:52775 HGNC:31026 H2AZ2P1 H2AZ2 pseudogene 1 pseudogene pseudogene Approved 15q26.1 15q26.1 HsT19970 "H2AFVP|H2AFVP1" "H2A histone family, member V, pseudogene|H2A histone family, member V, pseudogene 1|H2A histone family member V pseudogene 1" 2006-01-17 2019-07-23 2019-07-23 2019-07-23 654500 ENSG00000258741 AC091544 NG_009543 PGOHUM00000246930 HGNC:31026 HGNC:4742 H2AZP1 H2A.Z histone pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 "H2AFZP|H2AFZP1" "H2A histone family, member Z, pseudogene|H2A histone family, member Z pseudogene 1|H2A histone family member Z pseudogene 1" 2000-05-23 2019-07-23 2019-07-23 2019-07-23 54049 ENSG00000213440 OTTHUMG00000086895 U61521 NG_000922 PGOHUM00000239090 HGNC:4742 @@ -11168,7 +11169,7 @@ HGNC:4750 H2BC14 H2B clustered histone 14 protein-coding gene gene with protein HGNC:4749 H2BC15 H2B clustered histone 15 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 H2B/d "H2BFD|HIST1H2BN" "H2B histone family, member D|histone 1, H2bn|histone cluster 1, H2bn|histone cluster 1 H2B family member n" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2023-01-20 8341 ENSG00000233822 OTTHUMG00000016397 uc063mkf.1 Z83336 NM_003520 CCDS4633 Q99877 "9439656|12408966" "MGI:2448377|MGI:2448404" 602801 HGNC:4749 "ENST00000612898.2|NM_003520.4" HGNC:4754 H2BC16P H2B clustered histone 16, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 pH2B/i "H2BFIP|HIST1H2BPS2" "H2B histone family, member I, pseudogene|histone 1, H2b, pseudogene 2|histone cluster 1, H2b, pseudogene 2|histone cluster 1 H2B pseudogene 2" H2B histones 1937 1998-10-05 2019-07-23 2019-07-23 2019-11-27 10340 ENSG00000217646 OTTHUMG00000014491 X83547 NG_029324 9031620 PGOHUM00000243098 HGNC:4754 HGNC:4758 H2BC17 H2B clustered histone 17 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H2B/n|H2B.2" "H2BFN|HIST1H2BO" "H2B histone family, member N|histone 1, H2bo|histone cluster 1, H2bo|histone cluster 1 H2B family member o" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2023-01-20 8348 ENSG00000274641 OTTHUMG00000014493 uc003nkc.2 X57138 NM_003527 CCDS4640 P23527 "1768865|12408966" MGI:2448409 602808 HGNC:4758 "ENST00000616182.2|NM_003527.4" -HGNC:24700 H2BC18 H2B clustered histone 18 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 HIST2H2BF "histone 2, H2bf|histone cluster 2, H2bf|histone cluster 2 H2B family member f" H2B histones 1937 2006-06-12 2019-07-23 2019-07-23 2023-01-20 440689 ENSG00000203814 OTTHUMG00000183159 uc001esr.5 BC110793 NM_001024599 "CCDS30846|CCDS53359" Q5QNW6 MGI:2448413 RGD:6487821 HGNC:24700 "ENST00000369167.3|NM_001024599.5" +HGNC:24700 H2BC18 H2B clustered histone 18 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 HIST2H2BF "histone 2, H2bf|histone cluster 2, H2bf|histone cluster 2 H2B family member f" H2B histones 1937 2006-06-12 2019-07-23 2019-07-23 2023-01-20 440689 ENSG00000203814 OTTHUMG00000183159 uc001esr.5 BC110793 NM_001024599 "CCDS53359|CCDS30846" Q5QNW6 MGI:2448413 RGD:6487821 HGNC:24700 "ENST00000369167.3|NM_001024599.5" HGNC:20517 H2BC19P H2B clustered histone 19, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 "H2B/s|H2B/o" "H2BFO|HIST2H2BD" "histone 2, H2bd|H2B histone family, member O|histone cluster 2, H2bd (pseudogene)|histone cluster 2 H2B family member d (pseudogene)" H2B histones 1937 2003-02-20 2019-07-23 2019-07-23 2019-11-27 337874 ENSG00000220323 OTTHUMG00000035827 AY131978 NG_001226 Q6DRA6 "12408966|15527963" PGOHUM00000296567 HGNC:20517 HGNC:20516 H2BC20P H2B clustered histone 20, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 "H2B/t|LETN" lncRNA essential for tumor cell proliferation via NPM1 HIST2H2BC "histone 2, H2bc|histone cluster 2, H2bc|histone cluster 2, H2bc (pseudogene)|histone cluster 2 H2B family member c (pseudogene)" H2B histones 1937 2003-02-20 2019-07-23 2019-07-23 2021-11-17 337873 ENSG00000261716 OTTHUMG00000035826 AY131977 NR_036461 Q6DN03 "12408966|15527963" PGOHUM00000295892 HGNC:20516 HGNC:4760 H2BC21 H2B clustered histone 21 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "H2B/q|H2B.1|H2BE|H2B-GL105" "H2B|H2BFQ|HIST2H2BE" "H2B histone family, member Q|histone 2, H2be|histone cluster 2, H2be|histone cluster 2 H2B family member e" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2023-01-20 8349 ENSG00000184678 OTTHUMG00000012095 uc057klp.1 AY131979 NM_003528 CCDS936 Q16778 "1469070|12408966|23240083" RGD:1591796 601831 HGNC:4760 "ENST00000369155.4|NM_003528.3" @@ -11272,7 +11273,7 @@ HGNC:4786 H4C10P H4 clustered histone 10, pseudogene pseudogene pseudogene Appro HGNC:4785 H4C11 H4 clustered histone 11 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H4/e|H4F2iv" "H4FE|HIST1H4J" "H4 histone family, member E|histone 1, H4j|histone cluster 1, H4j|histone cluster 1 H4 family member j" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2023-01-20 8363 ENSG00000197238 OTTHUMG00000014487 uc003njp.4 J00188 NM_021968 CCDS4630 P62805 "6265100|9439656|12408966" MGI:2448425 602826 HGNC:4785 "ENST00000355057.3|NM_021968.4" HGNC:4784 H4C12 H4 clustered histone 12 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H4/d|H4F2iii|dJ160A22.1" "H4FD|HIST1H4K" "H4 histone family, member D|histone 1, H4k|histone cluster 1, H4k|histone cluster 1 H4 family member k" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2023-01-20 8362 ENSG00000273542 OTTHUMG00000014488 uc003njr.4 X60483 NM_003541 CCDS4631 P62805 "9439656|12408966" MGI:2448436 RGD:7529415 602825 HGNC:4784 "ENST00000611927.2|NM_003541.3" HGNC:4791 H4C13 H4 clustered histone 13 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H4.k|H4/k" "H4FK|HIST1H4L" "H4 histone family, member K|histone 1, H4l|histone cluster 1, H4l|histone cluster 1 H4 family member l" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2023-01-20 8368 ENSG00000275126 OTTHUMG00000016211 uc003njz.4 X83548 NM_003546 CCDS4637 P62805 "9031620|9439656|12408966" MGI:4843992 602831 HGNC:4791 "ENST00000618305.2|NM_003546.3" -HGNC:4794 H4C14 H4 clustered histone 14 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "H4F2|H4FN|HIST2H4|H4/n|HIST2H4A" "H4 histone, family 2|histone 2, H4|histone 2, H4a|histone cluster 2, H4a|histone cluster 2 H4 family member a" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2023-01-20 8370 ENSG00000270882 OTTHUMG00000012189 uc001ess.4 M16707 NM_003548 CCDS30847 P62805 "3035717|6314274|15527963" MGI:2448420 RGD:1562378 142750 HGNC:4794 "ENST00000578186.3|NM_003548.2" +HGNC:4794 H4C14 H4 clustered histone 14 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "H4F2|H4FN|HIST2H4|H4/n|HIST2H4A" "H4 histone, family 2|histone 2, H4|histone 2, H4a|histone cluster 2, H4a|histone cluster 2 H4 family member a" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2023-01-20 8370 ENSG00000270882 OTTHUMG00000012189 uc001ess.4 M16707 NM_003548 CCDS30847 P62805 "3035717|6314274|15527963" MGI:2448420 142750 HGNC:4794 "ENST00000578186.3|NM_003548.2" HGNC:29607 H4C15 H4 clustered histone 15 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 H4/o HIST2H4B "histone 2, H4b|histone cluster 2, H4b|histone cluster 2 H4 family member b" H4 histones 1939 2006-06-12 2019-07-24 2019-07-24 2023-01-20 554313 ENSG00000270276 OTTHUMG00000188201 uc001etb.4 BC108260 NM_001034077 CCDS30851 P62805 15527963 MGI:2448419 HGNC:29607 "ENST00000579512.3|NM_001034077.4" HGNC:20510 H4C16 H4 histone 16 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 MGC24116 "HIST4H4|H4-16" "histone 4, H4|histone cluster 4, H4|histone cluster 4 H4" H4 histones 1939 2003-02-20 2022-06-14 2019-07-24 2023-01-20 121504 ENSG00000197837 OTTHUMG00000168735 uc001rcf.5 AY128653 NM_175054 CCDS8665 P62805 12408966 MGI:2448443 615069 HGNC:20510 "ENST00000539745.2|NM_175054.2" HGNC:54447 H4P1 H4 histone pseudogene 1 pseudogene pseudogene Approved 7q32.3 07q32.3 2019-08-02 2019-11-27 115482692 ENSG00000240680 OTTHUMG00000155003 NG_068485 PGOHUM00000302426 @@ -11283,45 +11284,45 @@ HGNC:4798 HABP2 hyaluronan binding protein 2 protein-coding gene gene with prote HGNC:17062 HABP4 hyaluronan binding protein 4 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "IHABP4|SERBP1L" 2002-06-11 2023-01-20 22927 ENSG00000130956 OTTHUMG00000020298 uc010msg.5 AF241831 NM_014282 CCDS6719 Q5JVS0 "9523163|10887182" MGI:1891713 RGD:1306486 617369 HGNC:17062 "ENST00000375249.5|NM_014282.4" HGNC:9639 HACD1 3-hydroxyacyl-CoA dehydratase 1 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 CAP "cementum attachment protein|Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1" PTPLA "protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a|protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A" 3-hydroxyacyl-CoA dehydratase family 2025 1999-01-22 2015-01-27 2015-01-27 2023-01-20 9200 ENSG00000165996 OTTHUMG00000017750 AF114494 NM_014241 CCDS7121 B0YJ81 "10644438|18554506|23933735" MGI:1353592 RGD:1595507 610467 377040 4.2.1.134 HGNC:9639 "ENST00000361271.8|NM_014241.4" HGNC:9639 HGNC:9640 HACD2 3-hydroxyacyl-CoA dehydratase 2 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 PTPLB protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b 3-hydroxyacyl-CoA dehydratase family 2025 1999-01-22 2015-01-27 2015-01-27 2023-01-20 201562 ENSG00000206527 OTTHUMG00000159529 AK074605 NM_198402 CCDS46895 Q6Y1H2 "15024066|18554506" MGI:1918007 RGD:1306337 615939 4.2.1.134 HGNC:9640 "ENST00000383657.10|NM_198402.5" -HGNC:24175 HACD3 3-hydroxyacyl-CoA dehydratase 3 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "B-ind1|HSPC121" Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 PTPLAD1 protein tyrosine phosphatase-like A domain containing 1 3-hydroxyacyl-CoA dehydratase family 2025 2005-11-11 2015-01-27 2015-01-27 2023-01-20 51495 ENSG00000074696 OTTHUMG00000172658 NM_016395 "CCDS45282|CCDS92019" Q9P035 "10747961|11042152|18554506" MGI:1889341 RGD:1565496 615940 4.2.1.134 HGNC:24175 "ENST00000261875.10|NM_016395.4" +HGNC:24175 HACD3 3-hydroxyacyl-CoA dehydratase 3 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "B-ind1|HSPC121" Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 PTPLAD1 protein tyrosine phosphatase-like A domain containing 1 3-hydroxyacyl-CoA dehydratase family 2025 2005-11-11 2015-01-27 2015-01-27 2023-01-20 51495 ENSG00000074696 OTTHUMG00000172658 NM_016395 "CCDS92019|CCDS45282" Q9P035 "10747961|11042152|18554506" MGI:1889341 RGD:1565496 615940 4.2.1.134 HGNC:24175 "ENST00000261875.10|NM_016395.4" HGNC:20920 HACD4 3-hydroxyacyl-CoA dehydratase 4 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "Em:AL662879.1|OTTHUMG00000021016" Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4 PTPLAD2 protein tyrosine phosphatase-like A domain containing 2 3-hydroxyacyl-CoA dehydratase family 2025 2005-11-11 2015-01-27 2015-01-27 2023-01-20 401494 ENSG00000188921 OTTHUMG00000021016 NM_001010915 CCDS43791 Q5VWC8 18554506 MGI:1914025 RGD:1310339 615941 4.2.1.134 HGNC:20920 "ENST00000495827.3|NM_001010915.5" HGNC:21033 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 6q16.3 06q16.3 KIAA1320 "Ankyrin repeat domain containing|HECT domain containing" "403|1959" 2003-05-07 2012-02-23 2023-01-20 57531 ENSG00000085382 OTTHUMG00000015287 uc003pqu.1 BC034982 NM_020771 CCDS5050 Q8IYU2 10718198 MGI:2446110 RGD:1306114 610876 315421 HGNC:21033 "ENST00000262903.9|NM_020771.4" HGNC:21033 -HGNC:17856 HACL1 2-hydroxyacyl-CoA lyase 1 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "2-HPCL|PHYH2" HPCL 2-hydroxyphytanoyl-CoA lyase 2006-01-09 2006-05-16 2006-05-16 2023-01-20 26061 ENSG00000131373 OTTHUMG00000129862 uc062hdf.1 AJ131753 NM_012260 "CCDS68360|CCDS2627|CCDS68362|CCDS68361" Q9UJ83 "10468558|15644336" MGI:1929657 RGD:619849 604300 4.1.-.- HGNC:17856 "ENST00000321169.10|NM_012260.4" +HGNC:17856 HACL1 2-hydroxyacyl-CoA lyase 1 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "2-HPCL|PHYH2" HPCL 2-hydroxyphytanoyl-CoA lyase 2006-01-09 2006-05-16 2006-05-16 2023-01-20 26061 ENSG00000131373 OTTHUMG00000129862 uc062hdf.1 AJ131753 NM_012260 "CCDS68360|CCDS68361|CCDS2627|CCDS68362" Q9UJ83 "10468558|15644336" MGI:1929657 RGD:619849 604300 4.1.-.- HGNC:17856 "ENST00000321169.10|NM_012260.4" HGNC:4799 HADH hydroxyacyl-CoA dehydrogenase protein-coding gene gene with protein product Approved 4q25 04q25 "HADH1|SCHAD" HADHSC "L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain|hydroxyacyl-Coenzyme A dehydrogenase" 2001-06-22 2010-04-30 2023-01-20 3033 ENSG00000138796 OTTHUMG00000131810 uc003hyq.4 X96752 NM_005327 "CCDS3678|CCDS82943|CCDS54790" Q16836 "975867|16176262" MGI:96009 RGD:69321 601609 122356 1.1.1.35 HGNC:4799 "ENST00000309522.8|NM_005327.7" HGNC:4799 HGNC:4801 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "GBP|LCEH|LCHAD|MTPA" "gastrin-binding protein|long-chain-3-hydroxyacyl-CoA dehydrogenase|long-chain 2-enoyl-CoA hydratase|mitochondrial trifunctional protein, alpha subunit" "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit" 1994-12-16 2017-09-15 2023-01-20 3030 ENSG00000084754 OTTHUMG00000096979 uc002rgy.3 D16480 NM_000182 CCDS1721 P40939 "9605857|7918661" MGI:2135593 RGD:620512 LRG_747|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_747.xml 600890 138233 "1.1.1.211|4.2.1.17" HGNC:4801 "ENST00000380649.8|NM_000182.5" HGNC:4801 HGNC:4802 HADHAP1 HADHA pseudogene 1 pseudogene pseudogene Approved 4q32.3 04q32.3 HADHAP "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase pseudogene (gastrin binding protein pseudogene)|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase pseudogene (gastrin binding protein pseudogene)" 1994-12-16 2010-03-19 2019-01-21 2019-01-21 3031 ENSG00000251596 OTTHUMG00000161127 U04628 NG_000863 7918661 PGOHUM00000245761 HGNC:4802 HGNC:38585 HADHAP2 HADHA pseudogene 2 pseudogene pseudogene Approved 12p13.31 12p13.31 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 2 2010-06-21 2019-01-21 2019-01-21 399994 ENSG00000255967 OTTHUMG00000168721 NG_005587 PGOHUM00000291530 HGNC:38585 -HGNC:4803 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta protein-coding gene gene with protein product Approved 2p23.3 02p23.3 MTPB mitochondrial trifunctional protein, beta subunit "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit" 1994-12-16 2017-09-15 2023-01-20 3032 ENSG00000138029 OTTHUMG00000096978 uc002rgz.4 NM_000183 "CCDS62872|CCDS62871|CCDS1722" P55084 9605857 MGI:2136381 RGD:620513 143450 138829 2.3.1.16 HGNC:4803 "ENST00000317799.10|NM_000183.3" HGNC:4803 +HGNC:4803 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta protein-coding gene gene with protein product Approved 2p23.3 02p23.3 MTPB mitochondrial trifunctional protein, beta subunit "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit" 1994-12-16 2017-09-15 2023-01-20 3032 ENSG00000138029 OTTHUMG00000096978 uc002rgz.4 NM_000183 "CCDS1722|CCDS62872|CCDS62871" P55084 9605857 MGI:2136381 RGD:620513 143450 138829 2.3.1.16 HGNC:4803 "ENST00000317799.10|NM_000183.3" HGNC:4803 HGNC:54887 HADHBP1 HADHB pseudogene 1 pseudogene pseudogene Approved Xp22.32 Xp22.32 2020-04-17 2020-04-17 100287928 ENSG00000238193 NG_022579 HGNC:56694 HAFML HuR (ELAVL1) associated fibroblast migratory lncRNA non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 HuR-associated fibroblast migratory lncRNA Long non-coding RNAs with non-systematic symbols 1992 2023-01-13 2023-01-13 105377555 ENSG00000248388 NR_183975 36458981 -HGNC:4805 HAGH hydroxyacylglutathione hydrolase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "GLO2|GLXII|HAGH1" hydroxyacyl glutathione hydrolase MBL domain containing glyoxalase 2 subfamily 1614 2001-06-22 2003-11-04 2023-01-20 3029 ENSG00000063854 OTTHUMG00000128662 uc002cna.4 X90999 NM_005326 "CCDS32366|CCDS10447|CCDS86494|CCDS66900" Q16775 "3025077|7327557" MGI:95745 RGD:2779 138760 3.1.2.6 HGNC:4805 "ENST00000397356.8|NM_005326.6" -HGNC:14177 HAGHL hydroxyacylglutathione hydrolase like protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC2605 hydroxyacyl glutathione hydrolase-like MBL domain containing glyoxalase 2 subfamily 1614 2000-12-21 2017-06-13 2023-01-20 84264 ENSG00000103253 OTTHUMG00000170560 uc002cjo.2 AK054841 NM_032304 "CCDS92077|CCDS32354|CCDS32355" Q6PII5 12477932 MGI:1919877 RGD:1308042 HGNC:14177 "ENST00000389703.8|NM_032304.4" +HGNC:4805 HAGH hydroxyacylglutathione hydrolase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "GLO2|GLXII|HAGH1" hydroxyacyl glutathione hydrolase MBL domain containing glyoxalase 2 subfamily 1614 2001-06-22 2003-11-04 2023-01-20 3029 ENSG00000063854 OTTHUMG00000128662 uc002cna.4 X90999 NM_005326 "CCDS32366|CCDS66900|CCDS10447|CCDS86494" Q16775 "3025077|7327557" MGI:95745 RGD:2779 138760 3.1.2.6 HGNC:4805 "ENST00000397356.8|NM_005326.6" +HGNC:14177 HAGHL hydroxyacylglutathione hydrolase like protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC2605 hydroxyacyl glutathione hydrolase-like MBL domain containing glyoxalase 2 subfamily 1614 2000-12-21 2017-06-13 2023-01-20 84264 ENSG00000103253 OTTHUMG00000170560 uc002cjo.2 AK054841 NM_032304 "CCDS32354|CCDS32355|CCDS92077" Q6PII5 12477932 MGI:1919877 RGD:1308042 HGNC:14177 "ENST00000389703.8|NM_032304.4" HGNC:43755 HAGLR HOXD antisense growth-associated long non-coding RNA non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 "Mdgt|MIR7704HG|STEEL" "MIR7704 host gene|spliced-transcript endothelial-enriched lncRNA" HOXD-AS1 "HOXD cluster antisense RNA 1 (non-protein coding)|HOXD cluster antisense RNA 1" Long non-coding RNAs with non-systematic symbols 1992 2012-02-18 2014-05-20 2014-05-20 2023-02-02 401022 ENSG00000224189 OTTHUMG00000154172 BC030713 NR_033979 "24381249|24555823|30203035|29467285" 618209 HAGLR HGNC:43755 HGNC:50646 HAGLROS HAGLR opposite strand lncRNA non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 HAGLR opposite strand (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-06-12 2018-05-16 2019-06-19 102800310 ENSG00000226363 OTTHUMG00000154176 "BE798911|AA780126" NR_110457 31197441 HAGLROS HGNC:50646 -HGNC:4806 HAL histidine ammonia-lyase protein-coding gene gene with protein product Approved 12q23.1 12q23.1 HIS 1988-08-31 2023-01-20 3034 ENSG00000084110 OTTHUMG00000170354 uc001tem.2 NM_001258333 "CCDS58265|CCDS9058|CCDS58264" P42357 MGI:96010 RGD:68363 609457 122361 4.3.1.3 HGNC:4806 "ENST00000261208.8|NM_002108.4" HGNC:4806 +HGNC:4806 HAL histidine ammonia-lyase protein-coding gene gene with protein product Approved 12q23.1 12q23.1 HIS 1988-08-31 2023-01-20 3034 ENSG00000084110 OTTHUMG00000170354 uc001tem.2 NM_001258333 "CCDS58264|CCDS9058|CCDS58265" P42357 MGI:96010 RGD:68363 609457 122361 4.3.1.3 HGNC:4806 "ENST00000261208.8|NM_002108.4" HGNC:4806 HGNC:15598 HAMP hepcidin antimicrobial peptide protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "LEAP-1|HEPC|HFE2B|LEAP1" 2001-05-29 2023-01-20 57817 ENSG00000105697 OTTHUMG00000183295 uc002nyw.4 AF309489 NM_021175 CCDS12454 P81172 "11034317|11113132" MGI:1933533 RGD:70971 LRG_791|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_791.xml 606464 122364 ligandId:5378 HGNC:15598 "ENST00000222304.5|NM_021175.4" HGNC:15598 HGNC:4807 HAND1 heart and neural crest derivatives expressed 1 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "eHand|Thing1|Hxt|bHLHa27" Basic helix-loop-helix proteins 420 1999-05-17 2023-01-20 9421 ENSG00000113196 OTTHUMG00000130193 uc003lvn.3 AF061756 NM_004821 CCDS4327 O96004 "9337404|9931445" MGI:103577 RGD:621206 602406 470428 HGNC:4807 "ENST00000231121.3|NM_004821.3" HGNC:4808 HAND2 heart and neural crest derivatives expressed 2 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 "dHand|Thing2|Hed|bHLHa26" Basic helix-loop-helix proteins 420 1999-05-17 2023-01-20 9464 ENSG00000164107 OTTHUMG00000160775 uc003ith.2 AF087941 NM_021973 CCDS3819 P61296 9878849 MGI:103580 RGD:621207 602407 470430 HGNC:4808 "ENST00000359562.4|NM_021973.3" HGNC:4808 HGNC:48872 HAND2-AS1 HAND2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 "DEIN|NBLA00301|FLJ11539" "neuroblastoma transcript 301|differentially expressed in neuroblastoma" HAND2 antisense RNA 1 (head to head) Antisense RNAs 1987 2013-07-11 2018-03-22 2018-03-22 79804 ENSG00000237125 OTTHUMG00000160783 NR_136192 "18171985|19348682|28194035" 617240 HAND2-AS1 HGNC:48872 HGNC:4809 HAO1 hydroxyacid oxidase 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 GOX glycolate oxidase 1 GOX1 hydroxyacid oxidase (glycolate oxidase) 1 1999-09-09 2016-03-17 2023-01-20 54363 ENSG00000101323 OTTHUMG00000031841 uc002wmw.2 AL021879 NM_017545 CCDS13100 Q9UJM8 9891009 MGI:96011 RGD:1589750 605023 1.1.3.15 HGNC:4809 "ENST00000378789.4|NM_017545.3" -HGNC:4810 HAO2 hydroxyacid oxidase 2 protein-coding gene gene with protein product Approved 1p12 01p12 "HAOX2|GIG16" "(S)-2-hydroxy-acid oxidase|glycolate oxidase|long-chain L-2-hydroxy acid oxidase|growth-inhibiting protein 16" hydroxyacid oxidase 2 (long chain) 2000-07-31 2016-03-17 2023-01-20 51179 ENSG00000116882 OTTHUMG00000012410 uc001ehq.1 AF231917 NM_001005783 "CCDS76196|CCDS901" Q9NYQ3 10777549 MGI:96012 RGD:70972 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HAO2 605176 1.1.3.15 HGNC:4810 "ENST00000325945.4|NM_016527.4" +HGNC:4810 HAO2 hydroxyacid oxidase 2 protein-coding gene gene with protein product Approved 1p12 01p12 "HAOX2|GIG16" "(S)-2-hydroxy-acid oxidase|glycolate oxidase|long-chain L-2-hydroxy acid oxidase|growth-inhibiting protein 16" hydroxyacid oxidase 2 (long chain) 2000-07-31 2016-03-17 2023-01-20 51179 ENSG00000116882 OTTHUMG00000012410 uc001ehq.1 AF231917 NM_001005783 "CCDS901|CCDS76196" Q9NYQ3 10777549 MGI:96012 RGD:70972 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HAO2 605176 1.1.3.15 HGNC:4810 "ENST00000325945.4|NM_016527.4" HGNC:41342 HAO2-IT1 HAO2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p12 01p12 HAO2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874270 ENSG00000230921 OTTHUMG00000012520 uc031unr.2 NR_046780 HAO2-IT1 HGNC:41342 -HGNC:4812 HAP1 huntingtin associated protein 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "HLP|hHLP1|HIP5" neuroan 1 HAP2 huntingtin-associated protein 1 1999-04-28 2016-06-30 2023-03-15 9001 ENSG00000173805 OTTHUMG00000133498 uc002hxn.2 AF040723 NM_003949 "CCDS11406|CCDS42338|CCDS42339" P54257 "7477378|9668110" MGI:1261831 RGD:68327 600947 HGNC:4812 "ENST00000347901.9|NM_177977.3" +HGNC:4812 HAP1 huntingtin associated protein 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "HLP|hHLP1|HIP5" neuroan 1 HAP2 huntingtin-associated protein 1 1999-04-28 2016-06-30 2023-03-15 9001 ENSG00000173805 OTTHUMG00000133498 uc002hxn.2 AF040723 NM_003949 "CCDS11406|CCDS42339|CCDS42338" P54257 "7477378|9668110" MGI:1261831 RGD:68327 600947 HGNC:4812 "ENST00000347901.9|NM_177977.3" HGNC:2380 HAPLN1 hyaluronan and proteoglycan link protein 1 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "Cartilage link protein|hyaluronan and proteoglycan link protein 1" CRTL1 cartilage linking protein 1 V-set domain containing 590 1990-03-14 2004-03-17 2004-03-16 2023-01-20 1404 ENSG00000145681 OTTHUMG00000119045 uc003kin.4 NM_001884 CCDS4061 P10915 "2286376|2320422" MGI:1337006 RGD:2412 115435 HGNC:2380 "ENST00000274341.9|NM_001884.4" HGNC:17410 HAPLN2 hyaluronan and proteoglycan link protein 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 BRAL1 brain link protein 1 V-set domain containing 590 2004-03-11 2023-01-20 60484 ENSG00000132702 OTTHUMG00000033205 uc001fpn.1 AB049054 NM_021817 CCDS1148 Q9GZV7 "11027579|11873941" MGI:2137300 RGD:621854 619726 HGNC:17410 "ENST00000255039.6|NM_021817.3" -HGNC:21446 HAPLN3 hyaluronan and proteoglycan link protein 3 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 HsT19883 EXLD1 extracellular link domain containing, 1 V-set domain containing 590 2004-03-11 2023-01-20 145864 ENSG00000140511 OTTHUMG00000148680 uc002bnc.4 AY262759 NM_178232 "CCDS76790|CCDS10346" Q96S86 12663660 MGI:1914916 RGD:1308098 HGNC:21446 "ENST00000359595.8|NM_178232.4" +HGNC:21446 HAPLN3 hyaluronan and proteoglycan link protein 3 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 HsT19883 EXLD1 extracellular link domain containing, 1 V-set domain containing 590 2004-03-11 2023-01-20 145864 ENSG00000140511 OTTHUMG00000148680 uc002bnc.4 AY262759 NM_178232 "CCDS10346|CCDS76790" Q96S86 12663660 MGI:1914916 RGD:1308098 HGNC:21446 "ENST00000359595.8|NM_178232.4" HGNC:31357 HAPLN4 hyaluronan and proteoglycan link protein 4 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "BRAL2|KIAA1926" brain link protein 2 V-set domain containing 590 2004-03-11 2023-01-20 404037 ENSG00000187664 OTTHUMG00000182221 uc002nmb.5 AB107883 NM_023002 CCDS12398 Q86UW8 12663660 MGI:2679531 RGD:1308408 619710 HGNC:31357 "ENST00000291481.8|NM_023002.3" HGNC:30103 HAPSTR1 HUWE1 associated protein modifying stress responses protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "FLJ41272|PRO0149|TAPR1" Telomere Attrition and p53 Response 1 C16orf72 chromosome 16 open reading frame 72 2006-06-14 2022-07-04 2022-07-04 2023-05-19 29035 ENSG00000182831 OTTHUMG00000178147 uc002czm.4 AK123266 NM_014117 CCDS10538 Q14CZ0 "33660365|35776542|37167062" MGI:1916303 RGD:1309748 HGNC:30103 "ENST00000327827.12|NM_014117.3" HGNC:55138 HAPSTR2 HUWE1 associated protein modifying stress responses 2 protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 2023-01-12 2023-01-20 389895 ENSG00000230707 NM_001271560 CCDS94678 A0A7P0TBJ1 36631436 RGD:1560171 HGNC:33117 HAR1A highly accelerated region 1A non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 "HAR1F|NCRNA00064|LINC00064" "human accelerated region 1, forward|non-protein coding RNA 64|long intergenic non-protein coding RNA 64" "highly accelerated region 1A (non-protein-coding RNA)|highly accelerated region 1A (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2006-10-03 2018-05-16 2018-05-16 768096 ENSG00000225978 OTTHUMG00000140136 uc002yef.2 "DQ860409|BC035016|BC047717" NR_003244 16915236 610556 HAR1A HAR1A HGNC:33117 HGNC:33118 HAR1B highly accelerated region 1B non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 "HAR1R|NCRNA00065|LINC00065" "human accelerated region 1, reverse|non-protein coding RNA 65|long intergenic non-protein coding RNA 65" "highly accelerated region 1B (non-protein-coding RNA)|highly accelerated region 1B (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2006-10-03 2018-05-16 2018-05-16 768097 ENSG00000231133 OTTHUMG00000140135 uc031run.1 "DQ860410|DQ860411" NR_003245 16915236 610557 HAR1B HAR1B HGNC:33118 HGNC:26522 HARBI1 harbinger transposase derived 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 FLJ32675 C11orf77 chromosome 11 open reading frame 77 DNA transposon derived genes 1415 2006-05-10 2008-07-01 2008-07-01 2023-01-20 283254 ENSG00000180423 OTTHUMG00000166537 uc001ncy.4 AK057237 NM_173811 CCDS7920 Q96MB7 "15169610|18339812" MGI:2443194 RGD:1584007 615086 HGNC:26522 "ENST00000326737.3|NM_173811.4" -HGNC:4816 HARS1 histidyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 HisRS "histidine tRNA ligase 1, cytoplasmic|Jo‐1 antigen" "USH3B|HARS" "Usher syndrome 3B|histidyl-tRNA synthetase" Aminoacyl tRNA synthetases, Class II 132 2001-06-22 2019-07-15 2019-07-15 2023-01-20 3035 ENSG00000170445 OTTHUMG00000129502 uc003lgv.6 AK000498 NM_002109 "CCDS75324|CCDS58978|CCDS75323|CCDS58976|CCDS4237|CCDS58977" P12081 22279524 MGI:108087 RGD:1310695 LRG_1374|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1374.xml 142810 303807 6.1.1.21 HGNC:4816 "ENST00000504156.7|NM_002109.6" HGNC:4816 -HGNC:4817 HARS2 histidyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "HO3|HARSR" histidine tRNA ligase 2, mitochondrial (putative) HARSL histidyl-tRNA synthetase-like Aminoacyl tRNA synthetases, Class II 132 2000-03-29 2007-02-23 2016-03-14 2023-01-20 23438 ENSG00000112855 OTTHUMG00000129500 uc003lgx.5 U18937 NM_012208 "CCDS4238|CCDS64267|CCDS87330|CCDS87329" P49590 "7755634|21464306" MGI:1918041 RGD:1308426 LRG_1376|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1376.xml 600783 268052 6.1.1.21 HGNC:4817 "ENST00000230771.9|NM_012208.4" HGNC:4817 +HGNC:4816 HARS1 histidyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 HisRS "histidine tRNA ligase 1, cytoplasmic|Jo‐1 antigen" "USH3B|HARS" "Usher syndrome 3B|histidyl-tRNA synthetase" Aminoacyl tRNA synthetases, Class II 132 2001-06-22 2019-07-15 2019-07-15 2023-01-20 3035 ENSG00000170445 OTTHUMG00000129502 uc003lgv.6 AK000498 NM_002109 "CCDS4237|CCDS58978|CCDS75324|CCDS58977|CCDS58976|CCDS75323" P12081 22279524 MGI:108087 RGD:1310695 LRG_1374|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1374.xml 142810 303807 6.1.1.21 HGNC:4816 "ENST00000504156.7|NM_002109.6" HGNC:4816 +HGNC:4817 HARS2 histidyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "HO3|HARSR" histidine tRNA ligase 2, mitochondrial (putative) HARSL histidyl-tRNA synthetase-like Aminoacyl tRNA synthetases, Class II 132 2000-03-29 2007-02-23 2016-03-14 2023-01-20 23438 ENSG00000112855 OTTHUMG00000129500 uc003lgx.5 U18937 NM_012208 "CCDS87329|CCDS4238|CCDS64267|CCDS87330" P49590 "7755634|21464306" MGI:1918041 RGD:1308426 LRG_1376|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1376.xml 600783 268052 6.1.1.21 HGNC:4817 "ENST00000230771.9|NM_012208.4" HGNC:4817 HGNC:4818 HAS1 hyaluronan synthase 1 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 HAS Glycosyltransferase family 2 428 1996-04-12 2023-01-20 3036 ENSG00000105509 OTTHUMG00000183499 uc002pxo.1 U59269 NM_001523 "CCDS74436|CCDS12838" Q92839 9169154 MGI:106590 RGD:708528 601463 2.4.1.212 HGNC:4818 "ENST00000540069.7|NM_001297436.2" HGNC:4819 HAS2 hyaluronan synthase 2 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 Glycosyltransferase family 2 428 1996-10-18 2023-01-20 3037 ENSG00000170961 OTTHUMG00000164953 uc003yph.3 U54804 NM_005328 CCDS6335 Q92819 9169154 MGI:107821 RGD:2781 601636 2.4.1.212 HGNC:4819 "ENST00000303924.5|NM_005328.3" HGNC:34340 HAS2-AS1 HAS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 "HASNT|NCRNA00077" non-protein coding RNA 77 "HAS2AS|HAS2-AS" "hyaluronan synthase 2 antisense|HAS2 antisense RNA (non-protein coding)|HAS2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-06-20 2010-11-25 2012-08-15 2018-08-22 594842 ENSG00000248690 OTTHUMG00000164965 uc022baf.2 AY941178 NR_002835 "21357421|28485478" 614353 HAS2-AS1 HGNC:34340 -HGNC:4820 HAS3 hyaluronan synthase 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 Glycosyltransferase family 2 428 1996-10-18 2023-01-20 3038 ENSG00000103044 OTTHUMG00000137562 uc002ewl.4 BC021853 NM_138612 "CCDS10870|CCDS10871" O00219 "9169154|9083017" MGI:109599 RGD:628656 602428 2.4.1.212 HGNC:4820 "ENST00000569188.6|NM_001199280.2" +HGNC:4820 HAS3 hyaluronan synthase 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 Glycosyltransferase family 2 428 1996-10-18 2023-01-20 3038 ENSG00000103044 OTTHUMG00000137562 uc002ewl.4 BC021853 NM_138612 "CCDS10871|CCDS10870" O00219 "9169154|9083017" MGI:109599 RGD:628656 602428 2.4.1.212 HGNC:4820 "ENST00000569188.6|NM_001199280.2" HGNC:19682 HASPIN histone H3 associated protein kinase protein-coding gene gene with protein product Approved 17p13.2 17p13.2 GSG2 germ cell associated 2 (haspin) 2005-01-19 2017-05-17 2017-05-18 2023-01-20 83903 ENSG00000177602 OTTHUMG00000090703 uc002fwp.4 AB039834 NM_031965 CCDS11036 Q8TF76 28413956 MGI:1194498 RGD:1596276 609240 objectId:2028 HGNC:19682 "ENST00000325418.5|NM_031965.2" HGNC:4821 HAT1 histone acetyltransferase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 KAT1 Lysine acetyltransferases 486 1998-10-13 2023-03-15 8520 ENSG00000128708 OTTHUMG00000132282 uc002uhi.4 AF030424 NM_003642 CCDS2245 O14929 9427644 MGI:96013 RGD:1305716 603053 objectId:2657 2.3.1.48 HGNC:4821 "ENST00000264108.5|NM_003642.4" HGNC:25174 HAUS1 HAUS augmin like complex subunit 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "HEI-C|HsT1461|FLJ40084" CCDC5 coiled-coil domain containing 5 (spindle associated) HAUS augmin like complex 581 2004-01-12 2009-04-20 2015-11-09 2023-01-20 115106 ENSG00000152240 OTTHUMG00000132638 uc002lbu.3 AY360137 NM_138443 CCDS11928 Q96CS2 19427217 MGI:2385076 RGD:619909 608775 HGNC:25174 "ENST00000282058.11|NM_138443.4" @@ -11339,13 +11340,13 @@ HGNC:43764 HAUS6P1 HAUS augmin like complex subunit 6 pseudogene 1 pseudogene ps HGNC:43765 HAUS6P2 HAUS augmin like complex subunit 6 pseudogene 2 pseudogene pseudogene Approved 20q11.21 20q11.21 2012-02-22 2015-11-09 2015-11-09 100133268 ENSG00000236121 OTTHUMG00000032159 NG_029308 PGOHUM00000259635 HGNC:43765 HGNC:50772 HAUS6P3 HAUS augmin like complex subunit 6 pseudogene 3 pseudogene pseudogene Approved 7p12.1 07p12.1 2014-06-18 2015-11-09 2015-11-09 102723574 ENSG00000235454 OTTHUMG00000156040 NG_046607 PGOHUM00000233234 HGNC:50772 HGNC:32979 HAUS7 HAUS augmin like complex subunit 7 protein-coding gene gene with protein product Approved Xq28 Xq28 UIP1 "UCH37 interacting protein 1|26S proteasome-associated UCH interacting protein 1" UCHL5IP UCHL5 interacting protein HAUS augmin like complex 581 2006-10-30 2009-04-20 2015-11-09 2023-03-15 55559 ENSG00000213397 OTTHUMG00000159321 uc004fho.3 AF267739 NM_017518 CCDS35438 Q99871 "11163772|16395595|19427217" MGI:1920988 RGD:1562991 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UCHL5IP 300540 HGNC:32979 "ENST00000370211.10|NM_001385482.1" -HGNC:30532 HAUS8 HAUS augmin like complex subunit 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MGC20533|NY-SAR-48" HICE1 HEC1/NDC80 interacting, centrosome associated 1 HAUS augmin like complex 581 2008-12-16 2009-04-20 2015-11-09 2023-01-20 93323 ENSG00000131351 OTTHUMG00000182672 uc002nfe.4 BC004398 NM_001011699 "CCDS46009|CCDS32948" Q9BT25 19427217 MGI:1923728 RGD:1311565 613434 HGNC:30532 "ENST00000253669.10|NM_033417.2" +HGNC:30532 HAUS8 HAUS augmin like complex subunit 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MGC20533|NY-SAR-48" HICE1 HEC1/NDC80 interacting, centrosome associated 1 HAUS augmin like complex 581 2008-12-16 2009-04-20 2015-11-09 2023-01-20 93323 ENSG00000131351 OTTHUMG00000182672 uc002nfe.4 BC004398 NM_001011699 "CCDS32948|CCDS46009" Q9BT25 19427217 MGI:1923728 RGD:1311565 613434 HGNC:30532 "ENST00000253669.10|NM_033417.2" HGNC:43766 HAUS8P1 HAUS augmin like complex subunit 8 pseudogene 1 pseudogene pseudogene Approved 12q24.21 12q24.21 2012-02-22 2015-11-09 2017-03-28 100420901 ENSG00000257300 OTTHUMG00000169478 NG_024131 PGOHUM00000291811 HGNC:43766 HGNC:17866 HAVCR1 hepatitis A virus cellular receptor 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "HAVCR-1|TIM-1|TIM1|HAVCR|TIMD1|CD365|KIM1" "T-cell immunoglobulin mucin family member 1|kidney injury molecule 1" "CD molecules|V-set domain containing" "471|590" 2002-12-04 2023-01-20 26762 ENSG00000113249 OTTHUMG00000163466 uc021ygj.2 AF043724 NM_012206 "CCDS43392|CCDS78076" Q96D42 "9658108|11725301|18273441" MGI:2159680 RGD:708425 606518 HGNC:17866 "ENST00000523175.6|NM_001173393.3" HGNC:44033 HAVCR1P1 hepatitis A virus cellular receptor 1 pseudogene 1 pseudogene pseudogene Approved 19p12 19p12 2012-05-28 2014-11-19 100101266 NR_003603 PGOHUM00000234272 HGNC:44033 HGNC:44035 HAVCR1P2 hepatitis A virus cellular receptor 1 pseudogene 2 pseudogene pseudogene Approved 4q26 04q26 2012-05-28 2014-11-19 100421002 NG_025245 PGOHUM00000257093 HGNC:44035 HGNC:18437 HAVCR2 hepatitis A virus cellular receptor 2 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "Tim-3|TIM3|FLJ14428|TIMD3|CD366" T-cell immunoglobulin mucin family member 3 V-set domain containing 590 2002-12-04 2023-01-20 84868 ENSG00000135077 OTTHUMG00000130249 uc003lwk.3 AK027334 NM_032782 CCDS4333 Q8TDQ0 11823861 MGI:2159682 RGD:1305233 606652 objectId:2940 HGNC:18437 "ENST00000307851.9|NM_032782.5" -HGNC:16915 HAX1 HCLS1 associated protein X-1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "HS1BP1|HCLSBP1|HAX-1" HCLS1 (and PKD2) associated protein 2005-05-19 2023-01-20 10456 ENSG00000143575 OTTHUMG00000035978 uc001fes.5 U68566 NM_006118 "CCDS44230|CCDS1064" O00165 "9058808|10760273" MGI:1346319 RGD:727960 "HAX1base: Mutation registry for severe congenital neutropenia (Kostmann disease)|http://structure.bmc.lu.se/idbase/HAX1base/|LRG_64|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_64.xml" 605998 122370 HGNC:16915 "ENST00000328703.12|NM_006118.4" HGNC:16915 +HGNC:16915 HAX1 HCLS1 associated protein X-1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "HS1BP1|HCLSBP1|HAX-1" HCLS1 (and PKD2) associated protein 2005-05-19 2023-01-20 10456 ENSG00000143575 OTTHUMG00000035978 uc001fes.5 U68566 NM_006118 "CCDS1064|CCDS44230" O00165 "9058808|10760273" MGI:1346319 RGD:727960 "HAX1base: Mutation registry for severe congenital neutropenia (Kostmann disease)|http://structure.bmc.lu.se/idbase/HAX1base/|LRG_64|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_64.xml" 605998 122370 HGNC:16915 "ENST00000328703.12|NM_006118.4" HGNC:16915 HGNC:55151 HAX1P1 HAX1 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2020-07-15 2020-07-15 100129661 ENSG00000233467 NG_022646 HGNC:4823 HBA1 hemoglobin subunit alpha 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HBA-T3 hemoglobin, alpha 1 Hemoglobin subunits 940 2001-06-22 2015-11-23 2023-01-20 3039 ENSG00000206172 OTTHUMG00000060138 uc002cfx.2 AF349571 NM_000558 CCDS10399 P69905 "1975428|2649166" "MGI:96015|MGI:96016" RGD:1359364 "HbVar: A Database of Human Hemoglobin Variants and Thalassemias|http://globin.cse.psu.edu/globin/hbvar/menu.html|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBA1|LRG_1225|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1225.xml" 141800 138671 HGNC:4823 "ENST00000320868.9|NM_000558.5" HGNC:4823 HGNC:4824 HBA2 hemoglobin subunit alpha 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HBA-T2 hemoglobin, alpha 2 Hemoglobin subunits 940 2001-06-22 2015-11-23 2023-01-20 3040 ENSG00000188536 OTTHUMG00000059924 uc002cfv.4 BC008572 NM_000517 CCDS10398 P69905 "6452630|2649166" "MGI:96015|MGI:96016" RGD:1359209 "HbVar: A Database of Human Hemoglobin Variants and Thalassemias|http://globin.cse.psu.edu/globin/hbvar/menu.html|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBA2|LRG_1240|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1240.xml" 141850 122374 HGNC:4824 "ENST00000251595.11|NM_000517.6" HGNC:4824 @@ -11360,7 +11361,7 @@ HGNC:4832 HBG2 hemoglobin subunit gamma 2 protein-coding gene gene with protein HGNC:4826 HBM hemoglobin subunit mu protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HBK HBAP2 "hemoglobin, alpha pseudogene 2|hemoglobin, mu" Hemoglobin subunits 940 2001-06-22 2006-05-12 2015-11-23 2023-01-20 3042 ENSG00000206177 OTTHUMG00000059926 uc002cfu.2 BC035682 NM_001003938 CCDS32347 Q6B0K9 "2649166|2825132|15855277" 609639 HGNC:4826 "ENST00000356815.4|NM_001003938.4" HGNC:23200 HBP1 HMG-box transcription factor 1 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 2003-10-08 2023-01-20 26959 ENSG00000105856 OTTHUMG00000157642 uc064gwv.1 BC017069 NM_012257 CCDS5741 O60381 "9030690|11500377" MGI:894659 RGD:620444 616714 HGNC:23200 "ENST00000222574.9|NM_012257.4" HGNC:4833 HBQ1 hemoglobin subunit theta 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HBQ hemoglobin, theta 1 Hemoglobin subunits 940 2001-06-22 2015-11-23 2023-01-20 3049 ENSG00000086506 OTTHUMG00000060727 uc002cfz.4 BC056686 NM_005331 CCDS10400 P09105 2649166 "MGI:2685722|MGI:3613460" RGD:2320907 142240 HGNC:4833 "ENST00000199708.3|NM_005331.5" -HGNC:4834 HBS1L HBS1 like translational GTPase protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "ERFS|HBS1|HSPC276|KIAA1038|DKFZp434g247|EF-1a|eRF3c" eRF3 family member "HBS1 (S. cerevisiae)-like|HBS1-like (S. cerevisiae)|HBS1-like translational GTPase" MicroRNA protein coding host genes 1691 2000-02-18 2015-11-18 2023-01-20 10767 ENSG00000112339 OTTHUMG00000015626 uc003qez.4 U87791 NM_001145158 "CCDS47480|CCDS5173|CCDS87443|CCDS47479" Q9Y450 "9872408|23667253" MGI:1891704 RGD:1308509 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBS1L 612450 HGNC:4834 "ENST00000367837.10|NM_006620.4" +HGNC:4834 HBS1L HBS1 like translational GTPase protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "ERFS|HBS1|HSPC276|KIAA1038|DKFZp434g247|EF-1a|eRF3c" eRF3 family member "HBS1 (S. cerevisiae)-like|HBS1-like (S. cerevisiae)|HBS1-like translational GTPase" MicroRNA protein coding host genes 1691 2000-02-18 2015-11-18 2023-01-20 10767 ENSG00000112339 OTTHUMG00000015626 uc003qez.4 U87791 NM_001145158 "CCDS47479|CCDS47480|CCDS87443|CCDS5173" Q9Y450 "9872408|23667253" MGI:1891704 RGD:1308509 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBS1L 612450 HGNC:4834 "ENST00000367837.10|NM_006620.4" HGNC:4835 HBZ hemoglobin subunit zeta protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HBZ1|HBZ-T1" hemoglobin, zeta Hemoglobin subunits 940 2001-06-22 2015-11-23 2023-01-20 3050 ENSG00000130656 OTTHUMG00000059928 uc002cft.2 M24173 NM_005332 CCDS10397 P02008 2649166 MGI:96019 RGD:1307486 142310 HGNC:4835 "ENST00000252951.3|NM_005332.3" HGNC:4836 HBZP1 hemoglobin subunit zeta pseudogene 1 pseudogene pseudogene Approved 16p13.3 16p13.3 "HBZ-T2|HBZ2|HBZ2P" HBZP "hemoglobin, zeta pseudogene|hemoglobin, zeta pseudogene 1" 2001-06-22 2010-03-19 2015-11-23 2015-11-23 3051 ENSG00000206178 OTTHUMG00000059925 J00184 NG_000006 2649166 PGOHUM00000248958 HGNC:4836 HGNC:4532 HCAR1 hydroxycarboxylic acid receptor 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "HCA1|FKSG80|TA-GPCR|LACR1" lactate receptor 1 "GPR104|GPR81" "G protein-coupled receptor 104|G protein-coupled receptor 81" Hydroxycarboxylic acid receptors 200 2000-01-20 2011-05-30 2011-05-30 2023-01-20 27198 ENSG00000196917 uc001ucz.4 AF411110 NM_032554 CCDS9236 Q9BXC0 "11574155|19047060|18952058|21454438" MGI:2441671 RGD:1586364 606923 objectId:311 HGNC:4532 "ENST00000432564.3|NM_032554.4" @@ -11369,9 +11370,9 @@ HGNC:16824 HCAR3 hydroxycarboxylic acid receptor 3 protein-coding gene gene with HGNC:48612 HCCAT5 hepatocellular carcinoma associated transcript 5 non-coding RNA RNA, long non-coding Approved 16q22.3 16q22.3 "HTA|FJ222407" hepatoma associated gene hepatocellular carcinoma associated transcript 5 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-21 2018-05-16 2018-05-16 283902 ENSG00000260880 OTTHUMG00000172964 NR_027756 "20130911|23314567" 615613 HCCAT5 HGNC:48612 HGNC:4837 HCCS holocytochrome c synthase protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 CCHL "cytochrome c heme-lyase|holocytochrome-c synthetase" MLS "holocytochrome c synthase (cytochrome c heme-lyase)|microphthalmia with linear skin defects" Mitochondrial respiratory chain complex assembly factors 645 1995-09-20 2010-05-11 2023-01-20 3052 ENSG00000004961 OTTHUMG00000021128 uc004cuj.4 NM_001122608 CCDS14139 P53701 "8364577|12444108" MGI:106911 RGD:1563855 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HCCS 300056 122378 4.4.1.17 HGNC:4837 "ENST00000380762.5|NM_005333.5" HGNC:4837 HGNC:55698 HCCS-DT HCCS divergent transcript non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 Divergent transcripts 1990 2021-07-05 2021-07-05 121847985 ENSG00000234129 -HGNC:4839 HCFC1 host cell factor C1 protein-coding gene gene with protein product Approved Xq28 Xq28 "HCF-1|HCF1|CFF|VCAF|MGC70925|PPP1R89" "VP16-accessory protein|protein phosphatase 1, regulatory subunit 89" "HFC1|MRX3" "mental retardation, X-linked 3|host cell factor C1 (VP16-accessory protein)" "Protein phosphatase 1 regulatory subunits|ATAC complex|NSL histone acetyltransferase complex" "694|1058|1482" 1994-10-14 2014-06-09 2023-01-20 3054 ENSG00000172534 OTTHUMG00000024222 uc004fjp.4 NM_005334 "CCDS44020|CCDS94699" P51610 "8392914|23000143" MGI:105942 RGD:1563804 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HCFC1 300019 317358 HGNC:4839 "ENST00000310441.12|NM_005334.3" HGNC:4839 +HGNC:4839 HCFC1 host cell factor C1 protein-coding gene gene with protein product Approved Xq28 Xq28 "HCF-1|HCF1|CFF|VCAF|MGC70925|PPP1R89" "VP16-accessory protein|protein phosphatase 1, regulatory subunit 89" "HFC1|MRX3" "mental retardation, X-linked 3|host cell factor C1 (VP16-accessory protein)" "Protein phosphatase 1 regulatory subunits|ATAC complex|NSL histone acetyltransferase complex" "694|1058|1482" 1994-10-14 2014-06-09 2023-01-20 3054 ENSG00000172534 OTTHUMG00000024222 uc004fjp.4 NM_005334 "CCDS94699|CCDS44020" P51610 "8392914|23000143" MGI:105942 RGD:1563804 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HCFC1 300019 317358 HGNC:4839 "ENST00000310441.12|NM_005334.3" HGNC:4839 HGNC:40273 HCFC1-AS1 HCFC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 HCFC1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873990 ENSG00000235802 OTTHUMG00000024223 uc065cad.1 NR_046608 HCFC1-AS1 HGNC:40273 -HGNC:21198 HCFC1R1 host cell factor C1 regulator 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HPIP|FLJ20568" host cell factor C1 regulator 1 (XPO1 dependent) 2003-06-23 2016-03-21 2023-01-20 54985 ENSG00000103145 OTTHUMG00000177450 uc002csz.3 AK000575 NM_017885 "CCDS73815|CCDS10490|CCDS32375|CCDS76810" Q9NWW0 12235138 MGI:2663619 RGD:727975 618818 HGNC:21198 "ENST00000248089.8|NM_017885.4" +HGNC:21198 HCFC1R1 host cell factor C1 regulator 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HPIP|FLJ20568" host cell factor C1 regulator 1 (XPO1 dependent) 2003-06-23 2016-03-21 2023-01-20 54985 ENSG00000103145 OTTHUMG00000177450 uc002csz.3 AK000575 NM_017885 "CCDS32375|CCDS76810|CCDS73815|CCDS10490" Q9NWW0 12235138 MGI:2663619 RGD:727975 618818 HGNC:21198 "ENST00000248089.8|NM_017885.4" HGNC:24972 HCFC2 host cell factor C2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 HCF-2 2004-06-18 2023-01-20 29915 ENSG00000111727 OTTHUMG00000170175 uc001tkj.5 AF117210 NM_013320 CCDS9097 Q9Y5Z7 10196288 MGI:1915183 RGD:1307385 607926 HGNC:24972 "ENST00000229330.9|NM_013320.3" HGNC:39815 HCFC2P1 host cell factor C2 pseudogene 1 pseudogene pseudogene Approved 13q33.3 13q33.3 2011-03-30 2011-03-30 100419149 ENSG00000232087 OTTHUMG00000017331 NG_024949 PGOHUM00000248683 HGNC:39815 HGNC:21241 HCG4 HLA complex group 4 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 "HCGIV-10|HCGIV.9" HCG4P10 "HLA complex group 4|HLA complex group 4 pseudogene 10|HLA complex group 4 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2003-05-29 2018-05-16 2018-05-16 54435 ENSG00000176998 OTTHUMG00000035423 AF036977 NR_002139 HCG4 HGNC:21241 @@ -11425,19 +11426,19 @@ HGNC:43590 HDAC2-AS2 HDAC2 and HS3ST5 antisense RNA 2 non-coding RNA RNA, long n HGNC:4854 HDAC3 histone deacetylase 3 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "RPD3|HD3|RPD3-2|KDAC3" "Histone deacetylases, class I|NCoR/SMRT transcriptional repression complex subunits" "989|1875" 1999-01-29 2023-01-20 8841 ENSG00000171720 OTTHUMG00000129629 uc003llf.3 AF059650 NM_003883 CCDS4264 O15379 "9501169|9464271" MGI:1343091 RGD:619977 605166 objectId:2617 3.5.1.98 HGNC:4854 "ENST00000305264.8|NM_003883.4" HGNC:14063 HDAC4 histone deacetylase 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "KIAA0288|HDAC-A|HDACA|HD4|HA6116|HDAC-4" BDMR brachydactyly-mental retardation syndrome "Histone deacetylases, class IIA|MicroRNA protein coding host genes" "992|1691" 2000-11-28 2023-01-20 9759 ENSG00000068024 OTTHUMG00000133344 uc002vyk.4 AB006626 NM_006037 "CCDS2529|CCDS92981" P56524 "10206986|10220385|20691407" MGI:3036234 RGD:619979 605314 238991 objectId:2659 HGNC:14063 "ENST00000543185.6|NM_001378414.1" HGNC:14063 HGNC:54064 HDAC4-AS1 HDAC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Antisense RNAs 1987 2018-09-27 2018-09-27 101928111 ENSG00000222020 OTTHUMG00000152658 NR_135575 HGNC:54064 -HGNC:14068 HDAC5 histone deacetylase 5 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "KIAA0600|NY-CO-9|FLJ90614" Histone deacetylases, class IIA 992 2000-11-28 2023-01-20 10014 ENSG00000108840 OTTHUMG00000181806 uc002iff.2 AF249731 NM_001015053 "CCDS32663|CCDS45696" Q9UQL6 "10220385|9610721" MGI:1333784 RGD:619980 605315 objectId:2660 3.5.1.98 HGNC:14068 "ENST00000682912.1|NM_005474.5" HGNC:14068 -HGNC:14064 HDAC6 histone deacetylase 6 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "KIAA0901|JM21|HD6|FLJ16239|PPP1R90" protein phosphatase 1, regulatory subunit 90 "Protein phosphatase 1 regulatory subunits|Histone deacetylases, class IIB" "694|993" 2000-11-28 2023-01-20 10013 ENSG00000094631 OTTHUMG00000034496 uc004dks.2 AF132609 NM_006044 "CCDS14306|CCDS87740" Q9UBN7 "10220385|10048485" MGI:1333752 RGD:619981 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDAC6 300272 248481 objectId:2618 HGNC:14064 "ENST00000334136.11|NM_006044.4" HGNC:14064 -HGNC:14067 HDAC7 histone deacetylase 7 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 DKFZP586J0917 HDAC7A histone deacetylase 7A Histone deacetylases, class IIA 992 2001-07-13 2008-02-25 2008-02-25 2023-01-20 51564 ENSG00000061273 OTTHUMG00000152968 uc010slo.3 AF239243 NM_001098416 "CCDS81685|CCDS41776|CCDS8756" Q8WUI4 "10922406|10640276" MGI:1891835 RGD:619982 606542 objectId:2661 HGNC:14067 "ENST00000080059.12|NM_015401.5" -HGNC:13315 HDAC8 histone deacetylase 8 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "RPD3|KDAC8" "HDACL1|WTS|MRXS6" "histone deacetylase-like 1|Wilson-Turner X-linked mental retardation syndrome" Histone deacetylases, class I 989 2000-11-28 2002-09-06 2002-09-02 2023-01-20 55869 ENSG00000147099 OTTHUMG00000021814 uc004eau.3 AF230097 NM_018486 "CCDS55451|CCDS55450|CCDS94634|CCDS14420|CCDS94630|CCDS94631|CCDS94632|CCDS55448|CCDS94633|CCDS55449|CCDS55452" Q9BY41 "10756090|10922473|22889856" MGI:1917565 RGD:1562895 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDAC8 300269 290272 objectId:2619 HGNC:13315 "ENST00000373573.9|NM_018486.3" HGNC:13315 -HGNC:14065 HDAC9 histone deacetylase 9 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "KIAA0744|HDAC|MITR|HD7|HDAC7B" Histone deacetylases, class IIA 992 2002-09-06 2023-03-15 9734 ENSG00000048052 OTTHUMG00000152487 uc011jya.3 AF124924 NM_001204144 "CCDS83163|CCDS56466|CCDS94059|CCDS94058|CCDS47554|CCDS47553|CCDS47557|CCDS56467|CCDS75565|CCDS47555|CCDS56465|CCDS56468" Q9UKV0 "10523670|10487760" MGI:1931221 RGD:1310748 606543 objectId:2620 HGNC:14065 "ENST00000686413.1|NM_178425.4" +HGNC:14068 HDAC5 histone deacetylase 5 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "KIAA0600|NY-CO-9|FLJ90614" Histone deacetylases, class IIA 992 2000-11-28 2023-01-20 10014 ENSG00000108840 OTTHUMG00000181806 uc002iff.2 AF249731 NM_001015053 "CCDS45696|CCDS32663" Q9UQL6 "10220385|9610721" MGI:1333784 RGD:619980 605315 objectId:2660 3.5.1.98 HGNC:14068 "ENST00000682912.1|NM_005474.5" HGNC:14068 +HGNC:14064 HDAC6 histone deacetylase 6 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "KIAA0901|JM21|HD6|FLJ16239|PPP1R90" protein phosphatase 1, regulatory subunit 90 "Protein phosphatase 1 regulatory subunits|Histone deacetylases, class IIB" "694|993" 2000-11-28 2023-01-20 10013 ENSG00000094631 OTTHUMG00000034496 uc004dks.2 AF132609 NM_006044 "CCDS87740|CCDS14306" Q9UBN7 "10220385|10048485" MGI:1333752 RGD:619981 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDAC6 300272 248481 objectId:2618 HGNC:14064 "ENST00000334136.11|NM_006044.4" HGNC:14064 +HGNC:14067 HDAC7 histone deacetylase 7 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 DKFZP586J0917 HDAC7A histone deacetylase 7A Histone deacetylases, class IIA 992 2001-07-13 2008-02-25 2008-02-25 2023-01-20 51564 ENSG00000061273 OTTHUMG00000152968 uc010slo.3 AF239243 NM_001098416 "CCDS41776|CCDS8756|CCDS81685" Q8WUI4 "10922406|10640276" MGI:1891835 RGD:619982 606542 objectId:2661 HGNC:14067 "ENST00000080059.12|NM_015401.5" +HGNC:13315 HDAC8 histone deacetylase 8 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "RPD3|KDAC8" "HDACL1|WTS|MRXS6" "histone deacetylase-like 1|Wilson-Turner X-linked mental retardation syndrome" Histone deacetylases, class I 989 2000-11-28 2002-09-06 2002-09-02 2023-01-20 55869 ENSG00000147099 OTTHUMG00000021814 uc004eau.3 AF230097 NM_018486 "CCDS55450|CCDS94632|CCDS55451|CCDS55448|CCDS94630|CCDS55452|CCDS94633|CCDS94631|CCDS14420|CCDS94634|CCDS55449" Q9BY41 "10756090|10922473|22889856" MGI:1917565 RGD:1562895 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDAC8 300269 290272 objectId:2619 HGNC:13315 "ENST00000373573.9|NM_018486.3" HGNC:13315 +HGNC:14065 HDAC9 histone deacetylase 9 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "KIAA0744|HDAC|MITR|HD7|HDAC7B" Histone deacetylases, class IIA 992 2002-09-06 2023-03-15 9734 ENSG00000048052 OTTHUMG00000152487 uc011jya.3 AF124924 NM_001204144 "CCDS83163|CCDS47555|CCDS47553|CCDS94058|CCDS56467|CCDS47557|CCDS56466|CCDS94059|CCDS56468|CCDS75565|CCDS56465|CCDS47554" Q9UKV0 "10523670|10487760" MGI:1931221 RGD:1310748 606543 objectId:2620 HGNC:14065 "ENST00000686413.1|NM_178425.4" HGNC:40664 HDAC9-AS1 HDAC9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p21.1 07p21.1 Antisense RNAs 1987 2019-08-07 2019-08-07 105375176 ENSG00000226522 OTTHUMG00000152543 XR_927081 HGNC:40664 HGNC:18128 HDAC10 histone deacetylase 10 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 DKFZP761B039 Histone deacetylases, class IIB 993 2002-04-30 2023-01-20 83933 ENSG00000100429 OTTHUMG00000044647 uc003bkg.4 AF393962 NM_032019 "CCDS54545|CCDS14088" Q969S8 "11677242|11726666" MGI:2158340 RGD:1305874 608544 objectId:2614 HGNC:18128 "ENST00000216271.10|NM_032019.6" HGNC:19086 HDAC11 histone deacetylase 11 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 Histone deacetylases, class IV 991 2002-08-09 2023-01-20 79885 ENSG00000163517 OTTHUMG00000129800 uc003bxy.4 AK025426 NM_024827 "CCDS82738|CCDS46760|CCDS2615" Q96DB2 11948178 MGI:2385252 RGD:1311706 607226 objectId:2615 3.5.1.98 HGNC:19086 "ENST00000295757.8|NM_024827.4" HGNC:40868 HDAC11-AS1 HDAC11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 HDAC11 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-06-07 100874101 ENSG00000244502 OTTHUMG00000155438 uc062gwz.1 NR_046690 HDAC11-AS1 HGNC:40868 HGNC:4855 HDC histidine decarboxylase protein-coding gene gene with protein product Approved 15q21.2 15q21.2 1990-12-19 2023-01-20 3067 ENSG00000140287 OTTHUMG00000131644 uc001zxz.4 NM_001306146 "CCDS10134|CCDS76754" P19113 1487235 MGI:96062 RGD:2790 142704 411115 objectId:1274 4.1.1.22 HGNC:4855 "ENST00000267845.8|NM_002112.4" HGNC:4855 HGNC:21078 HDDC2 HD domain containing 2 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "CGI-130|dJ167O5.2" C6orf74 chromosome 6 open reading frame 74 2003-11-26 2005-08-22 2005-08-22 2023-01-20 51020 ENSG00000111906 OTTHUMG00000015506 uc003qaa.2 AF151888 NM_016063 CCDS43503 Q7Z4H3 10810093 MGI:1916942 RGD:1307562 HGNC:21078 "ENST00000398153.7|NM_016063.3" -HGNC:30522 HDDC3 HD domain containing 3 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "MGC45386|MESH1" 2005-08-22 2023-01-20 374659 ENSG00000184508 OTTHUMG00000141260 uc032cpi.2 AK057584 NM_198527 "CCDS10366|CCDS66866" Q8N4P3 20818390 MGI:1915945 RGD:1311839 HGNC:30522 "ENST00000394272.8|NM_001286451.2" -HGNC:4856 HDGF heparin binding growth factor protein-coding gene gene with protein product Approved 1q23.1 01q23.1 HMG1L2 high-mobility group protein 1-like "hepatoma-derived growth factor (high-mobility group protein 1-like)|hepatoma derived growth factor" Heparin binding growth factor family 1418 1998-01-08 2017-02-27 2023-01-20 3068 ENSG00000143321 OTTHUMG00000041295 uc001fpy.5 D16431 NM_004494 "CCDS44247|CCDS44248|CCDS1156" P51858 "8833162|26845719" MGI:1194494 RGD:70961 600339 HGNC:4856 "ENST00000357325.10|NM_004494.3" +HGNC:30522 HDDC3 HD domain containing 3 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "MGC45386|MESH1" 2005-08-22 2023-01-20 374659 ENSG00000184508 OTTHUMG00000141260 uc032cpi.2 AK057584 NM_198527 "CCDS66866|CCDS10366" Q8N4P3 20818390 MGI:1915945 RGD:1311839 HGNC:30522 "ENST00000394272.8|NM_001286451.2" +HGNC:4856 HDGF heparin binding growth factor protein-coding gene gene with protein product Approved 1q23.1 01q23.1 HMG1L2 high-mobility group protein 1-like "hepatoma-derived growth factor (high-mobility group protein 1-like)|hepatoma derived growth factor" Heparin binding growth factor family 1418 1998-01-08 2017-02-27 2023-01-20 3068 ENSG00000143321 OTTHUMG00000041295 uc001fpy.5 D16431 NM_004494 "CCDS1156|CCDS44248|CCDS44247" P51858 "8833162|26845719" MGI:1194494 RGD:70961 600339 HGNC:4856 "ENST00000357325.10|NM_004494.3" HGNC:21095 HDGFL1 HDGF like 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "dJ309H15.1|Hdgfrp1|HRP-1" PWWP1 "PWWP domain containing 1|hepatoma derived growth factor-like 1" Heparin binding growth factor family 1418 2003-05-20 2005-04-07 2017-02-27 2023-01-20 154150 ENSG00000112273 OTTHUMG00000016206 uc003nds.4 AK056824 NM_138574 CCDS34347 Q5TGJ6 MGI:1194493 RGD:621012 HGNC:21095 "ENST00000510882.4|NM_138574.4" HGNC:14680 HDGFL2 HDGF like 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HRP2|Hdgfrp2" hepatoma-derived growth factor related protein 2 Heparin binding growth factor family 1418 2017-04-21 2023-01-20 84717 ENSG00000167674 "AF294267|BC009449" NM_001001520 "CCDS59336|CCDS42472" Q7Z4V5 "16337983|15371438" MGI:1194492 RGD:621013 617884 HGNC:14680 "ENST00000616600.5|NM_001001520.3" HGNC:24937 HDGFL3 HDGF like 3 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "HRP-3|Hdgfrp3" Heparin binding growth factor family 1418 2017-04-21 2023-01-20 50810 ENSG00000166503 AB029156 NM_016073 CCDS32314 Q9Y3E1 "10581169|10810093" MGI:1352760 RGD:628773 616643 HGNC:24937 "ENST00000299633.7|NM_016073.4" @@ -11447,9 +11448,9 @@ HGNC:25364 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 protei HGNC:28171 HDHD3 haloacid dehalogenase like hydrolase domain containing 3 protein-coding gene gene with protein product Approved 9q32 09q32 MGC12904 C9orf158 "chromosome 9 open reading frame 158|haloacid dehalogenase-like hydrolase domain containing 3" Haloacid dehalogenase like hydrolase domain containing 1377 2004-05-10 2004-08-12 2015-12-01 2023-01-20 81932 ENSG00000119431 OTTHUMG00000020524 uc004bhk.4 AK097067 NM_031219 CCDS6793 Q9BSH5 12477932 MGI:1919998 RGD:1585262 HGNC:28171 "ENST00000374180.4|NM_001304509.2" HGNC:1843 HDHD5 haloacid dehalogenase like hydrolase domain containing 5 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 CECR5 cat eye syndrome chromosome region, candidate 5 Haloacid dehalogenase like hydrolase domain containing 1377 2000-01-31 2017-02-02 2017-02-02 2023-01-20 27440 ENSG00000069998 OTTHUMG00000150071 uc002zmh.4 AF273270 NM_017829 "CCDS33595|CCDS13741" Q9BXW7 11381032 MGI:2136976 RGD:1306557 HGNC:1843 "ENST00000336737.8|NM_033070.3" HGNC:1842 HDHD5-AS1 HDHD5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.1 22q11.1 NCRNA00017 non-protein coding RNA 17 "CECR4|CECR5-AS1" "cat eye syndrome chromosome region, candidate 4|cat eye syndrome chromosome region, candidate 4 (non-protein coding)|CECR5 antisense RNA 1 (non-protein coding)|CECR5 antisense RNA 1" Antisense RNAs 1987 2000-01-31 2017-03-01 2017-03-01 2017-03-01 100130717 ENSG00000185837 OTTHUMG00000150096 uc002zmi.5 AF307448 NR_024483 11381032 HGNC:1842 -HGNC:4857 HDLBP high density lipoprotein binding protein protein-coding gene gene with protein product Approved 2q37.3 02q37.3 HBP VGL vigilin 1992-12-01 2008-07-18 2023-01-20 3069 ENSG00000115677 OTTHUMG00000133391 uc002wba.4 NM_203346 "CCDS58760|CCDS2547" Q00341 "1318310|8390966" MGI:99256 RGD:620962 142695 HGNC:4857 "ENST00000310931.10|NM_005336.6" +HGNC:4857 HDLBP high density lipoprotein binding protein protein-coding gene gene with protein product Approved 2q37.3 02q37.3 HBP VGL vigilin 1992-12-01 2008-07-18 2023-01-20 3069 ENSG00000115677 OTTHUMG00000133391 uc002wba.4 NM_203346 "CCDS2547|CCDS58760" Q00341 "1318310|8390966" MGI:99256 RGD:620962 142695 HGNC:4857 "ENST00000310931.10|NM_005336.6" HGNC:56103 HDLBP-AS1 HDLBP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Antisense RNAs 1987 2022-01-06 2022-01-06 101927509 NR_168372 -HGNC:26411 HDX highly divergent homeobox protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 FLJ30678 CXorf43 chromosome X open reading frame 43 POU class homeoboxes and pseudogenes 523 2004-09-09 2007-07-13 2007-07-13 2023-01-20 139324 ENSG00000165259 OTTHUMG00000021926 uc004eek.3 BX538112 NM_144657 "CCDS35342|CCDS55456" Q7Z353 MGI:2685226 RGD:1563666 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDX 300994 8581 HGNC:26411 "ENST00000373177.3|NM_001177479.2" +HGNC:26411 HDX highly divergent homeobox protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 FLJ30678 CXorf43 chromosome X open reading frame 43 POU class homeoboxes and pseudogenes 523 2004-09-09 2007-07-13 2007-07-13 2023-01-20 139324 ENSG00000165259 OTTHUMG00000021926 uc004eek.3 BX538112 NM_144657 "CCDS55456|CCDS35342" Q7Z353 MGI:2685226 RGD:1563666 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDX 300994 8581 HGNC:26411 "ENST00000373177.3|NM_001177479.2" HGNC:25517 HEATR1 HEAT repeat containing 1 protein-coding gene gene with protein product Approved 1q43 01q43 "FLJ10359|BAP28|UTP10" UTP10, small subunit (SSU) processome component, homolog (yeast) "Minor histocompatibility antigens|UTPa subcomplex|Armadillo like helical domain containing" "870|1483|1492" 2005-07-29 2023-01-20 55127 ENSG00000119285 OTTHUMG00000040061 uc001hyd.3 BC065205 NM_018072 CCDS31066 Q9H583 17699751 MGI:2442524 RGD:1564769 620390 HGNC:25517 "ENST00000366582.8|NM_018072.6" HGNC:26087 HEATR3 HEAT repeat containing 3 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 FLJ20718 Armadillo like helical domain containing 1492 2006-04-05 2023-03-15 55027 ENSG00000155393 OTTHUMG00000133174 uc002efw.4 BC018730 NM_182922 CCDS10739 Q7Z4Q2 23615072 MGI:2444491 RGD:1308267 614951 HGNC:26087 "ENST00000299192.8|NM_182922.4" HGNC:55406 HEATR3-AS1 HEATR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Antisense RNAs 1987 2021-01-06 2021-01-06 120017339 ENSG00000259843 @@ -11459,17 +11460,17 @@ HGNC:55552 HEATR5A-DT HEATR5A divergent transcript non-coding RNA RNA, long non- HGNC:29273 HEATR5B HEAT repeat containing 5B protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "KIAA1414|DKFZp686P15184|p200|p200a" Armadillo like helical domain containing 1492 2007-01-02 2023-01-20 54497 ENSG00000008869 OTTHUMG00000152158 uc002rpp.2 AB037835 NM_019024 CCDS33181 Q9P2D3 "10718198|15758025|30523155" MGI:2444098 RGD:1359216 619627 HGNC:29273 "ENST00000233099.6|NM_019024.3" HGNC:24076 HEATR6 HEAT repeat containing 6 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "ABC1|FLJ22087" amplified in breast cancer 1 "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2007-05-01 2023-01-20 63897 ENSG00000068097 OTTHUMG00000179981 uc002iyk.2 BX640819 NM_022070 CCDS11623 Q6AI08 12755490 MGI:1919790 RGD:1566204 HGNC:24076 "ENST00000184956.11|NM_022070.5" HGNC:52929 HEATR6-DT HEATR6 divergent transcript non-coding RNA RNA, long non-coding Approved 17q23.1 17q23.1 AC025048.4 Divergent transcripts 1990 2020-10-15 2022-11-25 105371849 ENSG00000267416 OTTHUMG00000179983 NR_135648 -HGNC:26548 HEATR9 HEAT repeat containing 9 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ32830 C17orf66 chromosome 17 open reading frame 66 Armadillo like helical domain containing 1492 2005-12-16 2014-04-03 2014-04-03 2023-01-20 256957 ENSG00000270379 OTTHUMG00000188393 AK057392 NM_152781 "CCDS82108|CCDS11299" A2RTY3 12477932 MGI:3650286 RGD:1559875 HGNC:26548 "ENST00000604834.6|NM_152781.4" +HGNC:26548 HEATR9 HEAT repeat containing 9 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ32830 C17orf66 chromosome 17 open reading frame 66 Armadillo like helical domain containing 1492 2005-12-16 2014-04-03 2014-04-03 2023-01-20 256957 ENSG00000270379 OTTHUMG00000188393 AK057392 NM_152781 "CCDS11299|CCDS82108" A2RTY3 12477932 MGI:3650286 RGD:1559875 HGNC:26548 "ENST00000604834.6|NM_152781.4" HGNC:17176 HEBP1 heme binding protein 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "HEBP|HBP" Receptor ligands 542 2001-11-16 2023-01-20 50865 ENSG00000013583 OTTHUMG00000168771 uc001rbd.4 AF117615 NM_015987 CCDS31749 Q9NRV9 10640688 MGI:1333880 RGD:1304581 605826 ligandId:3935 HGNC:17176 "ENST00000014930.9|NM_015987.5" -HGNC:15716 HEBP2 heme binding protein 2 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 SOUL C6orf34 chromosome 6 open reading frame 34 2001-06-04 2002-09-27 2002-09-23 2023-01-20 23593 ENSG00000051620 OTTHUMG00000015671 uc003qhw.2 AF117616 NM_001326380 "CCDS87448|CCDS5191" Q9Y5Z4 "10640688|17098234" MGI:1860084 RGD:1311553 605825 HGNC:15716 "ENST00000607197.6|NM_014320.3" +HGNC:15716 HEBP2 heme binding protein 2 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 SOUL C6orf34 chromosome 6 open reading frame 34 2001-06-04 2002-09-27 2002-09-23 2023-01-20 23593 ENSG00000051620 OTTHUMG00000015671 uc003qhw.2 AF117616 NM_001326380 "CCDS5191|CCDS87448" Q9Y5Z4 "10640688|17098234" MGI:1860084 RGD:1311553 605825 HGNC:15716 "ENST00000607197.6|NM_014320.3" HGNC:54784 HEBP2P1 HEBP2 pseudogene 1 pseudogene pseudogene Approved 2q24.1 02q24.1 2020-01-08 2020-01-08 100128759 ENSG00000235548 NG_021531 HGNC:21041 HECA hdc homolog, cell cycle regulator protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "HDCL|hHDC|HDC|dJ225E12.1" headcase homolog (Drosophila) 2003-06-10 2015-07-23 2023-01-20 51696 ENSG00000112406 OTTHUMG00000015686 uc003qin.4 AB033492 NM_016217 CCDS5194 Q9UBI9 "11696983|19643820|22100912" MGI:2685715 RGD:1304818 607977 HGNC:21041 "ENST00000367658.3|NM_016217.3" HGNC:20157 HECTD1 HECT domain E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 14q12 14q12 KIAA1131 HECT domain containing E3 ubiquitin protein ligase 1 "Ankyrin repeat domain containing|Armadillo like helical domain containing|HECT domain containing" "403|1492|1959" 2002-12-18 2016-03-09 2023-01-20 25831 ENSG00000092148 OTTHUMG00000170670 uc059anr.1 AB032957 NM_001411010 "CCDS91860|CCDS41939" Q9ULT8 10574461 MGI:2384768 RGD:1561653 618649 470438 HGNC:20157 "ENST00000399332.6|NM_015382.4" -HGNC:26736 HECTD2 HECT domain E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 FLJ37306 HECT domain containing E3 ubiquitin protein ligase 2 HECT domain containing 1959 2004-05-27 2016-03-09 2023-01-20 143279 ENSG00000165338 OTTHUMG00000018742 uc001khl.4 AK094625 NM_001284274 "CCDS7415|CCDS7414|CCDS60591" Q5U5R9 "8619474|9110174" MGI:2442663 RGD:1305536 HGNC:26736 "ENST00000298068.10|NM_182765.6" +HGNC:26736 HECTD2 HECT domain E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 FLJ37306 HECT domain containing E3 ubiquitin protein ligase 2 HECT domain containing 1959 2004-05-27 2016-03-09 2023-01-20 143279 ENSG00000165338 OTTHUMG00000018742 uc001khl.4 AK094625 NM_001284274 "CCDS7414|CCDS60591|CCDS7415" Q5U5R9 "8619474|9110174" MGI:2442663 RGD:1305536 HGNC:26736 "ENST00000298068.10|NM_182765.6" HGNC:48679 HECTD2-AS1 HECTD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.32 10q23.32 Antisense RNAs 1987 2014-08-01 2014-08-01 100188947 NR_024467 HECTD2-AS1 HGNC:48679 HGNC:26117 HECTD3 HECT domain E3 ubiquitin protein ligase 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 FLJ21156 HECT domain containing E3 ubiquitin protein ligase 3 HECT domain containing 1959 2005-07-07 2016-03-09 2023-01-20 79654 ENSG00000126107 OTTHUMG00000008587 uc009vxk.4 BC019105 NM_024602 CCDS41318 Q5T447 18194665 MGI:1923858 RGD:1309823 618638 HGNC:26117 "ENST00000372172.5|NM_024602.6" HGNC:26611 HECTD4 HECT domain E3 ubiquitin protein ligase 4 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "FLJ34154|KIAA0614" C12orf51 "chromosome 12 open reading frame 51|HECT domain containing E3 ubiquitin protein ligase 4" "MicroRNA protein coding host genes|HECT domain containing" "1691|1959" 2006-01-24 2012-08-14 2016-03-09 2023-03-15 283450 ENSG00000173064 OTTHUMG00000150719 uc058tks.2 AK091473 NM_001109662 CCDS91751 Q9Y4D8 21270382 MGI:3647820 RGD:1309762 620209 HGNC:26611 "ENST00000682272.1|NM_001388303.1" -HGNC:22195 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 7p14.1-p13 07p14.1-p13 "KIAA0322|NEDL1" "C2 domain containing|MicroRNA protein coding host genes|HECT domain containing" "823|1691|1959" 2004-12-13 2023-01-20 23072 ENSG00000002746 OTTHUMG00000128917 uc003tid.2 AB048365 NM_015052 "CCDS69286|CCDS5469" Q76N89 "12690205|14684739" MGI:2444115 RGD:1561038 610384 HGNC:22195 "ENST00000395891.7|NM_015052.5" +HGNC:22195 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 7p14.1-p13 07p14.1-p13 "KIAA0322|NEDL1" "C2 domain containing|MicroRNA protein coding host genes|HECT domain containing" "823|1691|1959" 2004-12-13 2023-01-20 23072 ENSG00000002746 OTTHUMG00000128917 uc003tid.2 AB048365 NM_015052 "CCDS5469|CCDS69286" Q76N89 "12690205|14684739" MGI:2444115 RGD:1561038 610384 HGNC:22195 "ENST00000395891.7|NM_015052.5" HGNC:41465 HECW1-IT1 HECW1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 HECW1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2017-06-09 100127950 ENSG00000181211 OTTHUMG00000155204 uc003tif.1 NR_135295 HECW1-IT1 HGNC:41465 HGNC:29853 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "KIAA1301|NEDL2" "C2 domain containing|HECT domain containing" "823|1959" 2004-12-13 2023-03-15 57520 ENSG00000138411 OTTHUMG00000154435 uc002utm.2 AL390186 NM_020760 CCDS33354 Q9P2P5 "10718198|12890487" MGI:2685817 RGD:1593244 617245 HGNC:29853 "ENST00000644978.2|NM_001348768.2" HGNC:29853 HGNC:54062 HECW2-AS1 HECW2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 Antisense RNAs 1987 2018-09-27 2018-09-27 101927482 ENSG00000229056 NR_110225 HGNC:54062 @@ -11477,7 +11478,7 @@ HGNC:29227 HEG1 heart development protein with EGF like domains 1 protein-coding HGNC:45049 HEIH hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 "LINC-HEIH|lncRNA-HEIH|LINC00848|HCCAT2" "long intergenic non-protein coding RNA 848|highly expressed in hepatocellular carcinoma long non-coding RNA|hepatocellular carcinoma associated transcript 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-03-22 2013-05-23 2016-11-24 100859930 ENSG00000278970 OTTHUMG00000162271 uc003mmj.4 BC019622 NR_045680 "21769904|23359273" 618615 lncrna-heih HEIH HGNC:45049 HGNC:17196 HELB DNA helicase B protein-coding gene gene with protein product Approved 12q14.3 12q14.3 helicase (DNA) B 2004-03-25 2016-06-21 2023-01-20 92797 ENSG00000127311 OTTHUMG00000169006 uc058qna.1 AF319995 NM_001370285 CCDS8976 Q8NG08 12181327 MGI:2152895 RGD:1560103 614539 HGNC:17196 "ENST00000247815.9|NM_001370285.1" HGNC:43984 HELLPAR HELLP associated long non-coding RNA non-coding RNA RNA, long non-coding Approved 12q23.2 12q23.2 LINC-HELLP long intergenic non-protein coding RNA associated with HELLP syndrome Long non-coding RNAs with non-systematic symbols 1992 2012-11-05 2012-11-08 2023-05-04 101101692 ENSG00000281344 OTTHUMG00000189570 uc058skb.1 JX088243 23093777 614985 325025 lnchellp -HGNC:4861 HELLS helicase, lymphoid specific protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "PASG|SMARCA6|LSH|Nbla10143" "SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6|proliferation-associated SNF2-like protein" DNA helicases 1167 1998-07-15 2017-05-12 2023-03-15 3070 ENSG00000119969 OTTHUMG00000018793 uc001kjt.5 AF155827 NM_018063 "CCDS73163|CCDS7434|CCDS91307|CCDS91308|CCDS91306|CCDS73162" Q9NRZ9 "9878251|10910076|36012581" MGI:106209 RGD:1309820 603946 436818 HGNC:4861 "ENST00000348459.10|NM_018063.5" HGNC:4861 +HGNC:4861 HELLS helicase, lymphoid specific protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "PASG|SMARCA6|LSH|Nbla10143" "SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6|proliferation-associated SNF2-like protein" DNA helicases 1167 1998-07-15 2017-05-12 2023-03-15 3070 ENSG00000119969 OTTHUMG00000018793 uc001kjt.5 AF155827 NM_018063 "CCDS73162|CCDS91307|CCDS91306|CCDS7434|CCDS91308|CCDS73163" Q9NRZ9 "9878251|10910076|36012581" MGI:106209 RGD:1309820 603946 436818 HGNC:4861 "ENST00000348459.10|NM_018063.5" HGNC:4861 HGNC:18536 HELQ helicase, POLQ like protein-coding gene gene with protein product Approved 4q21.23 04q21.23 Hel308 DNA helicases 1167 2009-02-26 2017-06-13 2023-01-20 113510 ENSG00000163312 OTTHUMG00000130423 uc003hom.4 AF436845 NM_133636 "CCDS75158|CCDS3603" Q8TDG4 11751861 MGI:2176740 RGD:1560216 606769 HGNC:18536 "ENST00000295488.8|NM_133636.5" HGNC:33783 HELT helt bHLH transcription factor protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "HESL|HCM1228|Mgn|bHLHb44|MEGANE" "megane bHLH factor|HES-like" "Hey-like transcription factor (zebrafish)|HES/HEY-like transcription factor" Basic helix-loop-helix proteins 420 2008-04-21 2011-09-12 2023-03-15 391723 ENSG00000187821 OTTHUMG00000160484 uc011cko.3 BC144567 NM_001300781 "CCDS75214|CCDS75215" A6NFD8 "14764602|17611227" MGI:3040955 RGD:1564073 617546 HGNC:33783 "ENST00000515777.6|NM_001300781.2" HGNC:16878 HELZ helicase with zinc finger protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "KIAA0054|HUMORF5|DHRC" down-regulated in human cancers "Zinc fingers CCCH-type|UPF1 like RNA helicases" "73|1169" 2002-02-15 2023-01-20 9931 ENSG00000198265 OTTHUMG00000179555 uc002jfx.5 D29677 NM_014877 "CCDS82192|CCDS42374" P42694 "10471385|12691822" MGI:1925705 RGD:1307049 606699 HGNC:16878 "ENST00000358691.10|NM_014877.4" @@ -11487,9 +11488,9 @@ HGNC:17509 HEMGN hemogen protein-coding gene gene with protein product Approved HGNC:24923 HEMK1 HemK methyltransferase family member 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MTQ1 MTRF1L release factor glutamine methyltransferase 7BS protein methyltransferases 2058 2004-07-12 2023-01-20 51409 ENSG00000114735 OTTHUMG00000156849 uc003dau.4 AF172244 NM_016173 CCDS2830 Q9Y5R4 "10690633|35260756" MGI:1916786 RGD:1308293 618609 HGNC:24923 "ENST00000232854.9|NM_016173.5" HGNC:26400 HENMT1 HEN methyltransferase 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ30525|HEN1" hua enhancer 1 homolog 1 (Arabidopsis) C1orf59 "chromosome 1 open reading frame 59|HEN1 methyltransferase homolog 1 (Arabidopsis)|HEN1 methyltransferase homolog 1" 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2005-05-13 2011-01-28 2017-05-16 2023-01-20 113802 ENSG00000162639 OTTHUMG00000011123 uc001dvu.5 NM_144584 CCDS787 Q5T8I9 26496356 MGI:1913965 RGD:1306230 612178 HGNC:26400 "ENST00000651461.1|NM_001102592.2" HGNC:26361 HEPACAM hepatic and glial cell adhesion molecule protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FLJ25530|GLIALCAM" glial cell adhesion molecule hepatocyte cell adhesion molecule "V-set domain containing|Ig-like cell adhesion molecule family" "590|1410" 2007-01-22 2011-02-11 2023-01-20 220296 ENSG00000165478 OTTHUMG00000165938 uc001qbk.4 AK098396 NM_152722 "CCDS8456|CCDS91616" Q14CZ8 "15885354|15917256" MGI:1920177 RGD:1306811 611642 264482 HGNC:26361 "ENST00000298251.5|NM_152722.5" HGNC:26361 -HGNC:27364 HEPACAM2 HEPACAM family member 2 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 FLJ38683 "V-set domain containing|I-set domain containing" "590|593" 2008-07-11 2008-07-11 2023-01-20 253012 ENSG00000188175 OTTHUMG00000131732 uc003umm.5 AK096002 NM_198151 "CCDS75631|CCDS5629|CCDS75632|CCDS43616" A8MVW5 12975309 MGI:2141520 RGD:1305697 614133 HGNC:27364 "ENST00000394468.7|NM_001039372.4" HGNC:27364 +HGNC:27364 HEPACAM2 HEPACAM family member 2 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 FLJ38683 "V-set domain containing|I-set domain containing" "590|593" 2008-07-11 2008-07-11 2023-01-20 253012 ENSG00000188175 OTTHUMG00000131732 uc003umm.5 AK096002 NM_198151 "CCDS5629|CCDS75631|CCDS75632|CCDS43616" A8MVW5 12975309 MGI:2141520 RGD:1305697 614133 HGNC:27364 "ENST00000394468.7|NM_001039372.4" HGNC:27364 HGNC:56244 HEPFAL hepatocellular carcinoma ferroptosis associative lncRNA non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 KB-68A7.1 LINC03038 long intergenic non-protein coding RNA 3038 Long non-coding RNAs with non-systematic symbols 1992 2022-05-12 2022-10-13 2022-10-13 2022-10-13 124905036 ENSG00000274225 XR_007067903 "35127520|36008384" -HGNC:4866 HEPH hephaestin protein-coding gene gene with protein product Approved Xq12 Xq12 "KIAA0698|CPL" 1999-05-07 2023-01-20 9843 ENSG00000089472 OTTHUMG00000021732 uc011moz.4 AB014598 NM_138737 "CCDS14385|CCDS94623|CCDS14384|CCDS48133|CCDS65277" Q9BQS7 "9988272|9734811" MGI:1332240 RGD:71060 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HEPH 300167 470440 HGNC:4866 "ENST00000343002.7|NM_001367233.3" HGNC:4866 +HGNC:4866 HEPH hephaestin protein-coding gene gene with protein product Approved Xq12 Xq12 "KIAA0698|CPL" 1999-05-07 2023-01-20 9843 ENSG00000089472 OTTHUMG00000021732 uc011moz.4 AB014598 NM_138737 "CCDS14385|CCDS94623|CCDS14384|CCDS65277|CCDS48133" Q9BQS7 "9988272|9734811" MGI:1332240 RGD:71060 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HEPH 300167 470440 HGNC:4866 "ENST00000343002.7|NM_001367233.3" HGNC:4866 HGNC:30477 HEPHL1 hephaestin like 1 protein-coding gene gene with protein product Approved 11q21 11q21 "DKFZp686F22190|Zp" zyklopen 2004-11-03 2015-11-23 2023-01-20 341208 ENSG00000181333 OTTHUMG00000167751 uc001pep.3 BX641008 NM_001098672 CCDS44710 Q6MZM0 "31125343|34114013" MGI:2685355 RGD:1564835 618455 HGNC:30477 "ENST00000315765.10|NM_001098672.2" HGNC:34400 HEPN1 hepatocellular carcinoma, down-regulated 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 cancer susceptibility gene HEPN1 HEPACAM opposite strand 1 2008-07-11 2011-02-11 2023-03-15 641654 ENSG00000221932 OTTHUMG00000165939 uc001qbj.2 BC148521 NM_001037558 Q6WQI6 "12971969|23548416" 611641 HGNC:34400 HGNC:4867 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "p532|p619" hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 "WD repeat domain containing|HECT and RLD domain containing E3 ubiquitin protein ligases" "362|1885" 1999-01-07 2012-02-23 2023-01-20 8925 ENSG00000103657 OTTHUMG00000172433 uc002amp.4 U50078 NM_003922 CCDS45277 Q15751 "8861955|9233772" MGI:2384589 RGD:1306366 605109 460721 HGNC:4867 "ENST00000443617.7|NM_003922.4" HGNC:4867 @@ -11506,21 +11507,21 @@ HGNC:30495 HERC2P9 HERC2 pseudogene 9 pseudogene pseudogene Approved 15q13.1 15q HGNC:39056 HERC2P10 HERC2 pseudogene 10 pseudogene pseudogene Approved 15q13.2 15q13.2 hect domain and RLD 2 pseudogene 10 2010-09-29 2021-07-06 2021-07-06 390561 ENSG00000259845 OTTHUMG00000175658 NG_030002 PGOHUM00000247064 HGNC:39056 HGNC:49882 HERC2P11 HERC2 pseudogene 11 pseudogene pseudogene Approved 15q13.1 15q13.1 hect domain and RLD 2 pseudogene 11 2014-03-18 2021-07-06 2021-07-06 100996738 ENSG00000261581 OTTHUMG00000175881 NR_145479 PGOHUM00000246695 HGNC:49882 HGNC:4876 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 KIAA0032 hect domain and RLD 3 HECT and RLD domain containing E3 ubiquitin protein ligases 1885 1999-01-07 2012-02-23 2023-01-20 8916 ENSG00000138641 OTTHUMG00000150436 uc003hrw.2 D25215 NM_014606 "CCDS34028|CCDS82939|CCDS93559" Q15034 10702688 MGI:1921248 RGD:1307803 605200 HGNC:4876 "ENST00000402738.6|NM_014606.3" -HGNC:24521 HERC4 HECT and RLD domain containing E3 ubiquitin protein ligase 4 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "DKFZP564G092|KIAA1593" hect domain and RLD 4 HECT and RLD domain containing E3 ubiquitin protein ligases 1885 2004-05-27 2012-02-23 2023-01-20 26091 ENSG00000148634 OTTHUMG00000018343 uc001jnh.5 AY221963 NM_015601 "CCDS7274|CCDS60542|CCDS60541|CCDS41533" Q5GLZ8 10997877 MGI:1914595 RGD:1310971 609248 HGNC:24521 "ENST00000373700.9|NM_015601.4" +HGNC:24521 HERC4 HECT and RLD domain containing E3 ubiquitin protein ligase 4 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "DKFZP564G092|KIAA1593" hect domain and RLD 4 HECT and RLD domain containing E3 ubiquitin protein ligases 1885 2004-05-27 2012-02-23 2023-01-20 26091 ENSG00000148634 OTTHUMG00000018343 uc001jnh.5 AY221963 NM_015601 "CCDS7274|CCDS41533|CCDS60541|CCDS60542" Q5GLZ8 10997877 MGI:1914595 RGD:1310971 609248 HGNC:24521 "ENST00000373700.9|NM_015601.4" HGNC:24368 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 CEB1 hect domain and RLD 5 HECT and RLD domain containing E3 ubiquitin protein ligases 1885 2004-06-09 2012-02-23 2023-01-20 51191 ENSG00000138646 OTTHUMG00000130953 uc003hrt.5 AB027289 NM_016323 CCDS3630 Q9UII4 10581175 608242 HGNC:24368 "ENST00000264350.8|NM_016323.4" HGNC:26072 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 FLJ20637 hect domain and RLD 6 HECT and RLD domain containing E3 ubiquitin protein ligases 1885 2004-06-03 2012-02-23 2023-01-20 55008 ENSG00000138642 OTTHUMG00000160983 uc011cdi.3 AF336798 NM_001165136 "CCDS54777|CCDS47098" Q8IVU3 MGI:1914388 RGD:1561739 609249 HGNC:26072 "ENST00000264346.12|NM_017912.4" -HGNC:13744 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 protein-coding gene gene with protein product Approved 16q13 16q13 "KIAA0025|Mif1|HERP|SUP" homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 2000-11-29 2016-03-21 2023-03-15 9709 ENSG00000051108 OTTHUMG00000133276 uc002eke.3 AB034989 NM_001010989 "CCDS45492|CCDS10771" Q15011 "10922362|10708769" MGI:1927406 RGD:620818 HERPUD1 608070 HGNC:13744 "ENST00000439977.7|NM_014685.4" +HGNC:13744 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 protein-coding gene gene with protein product Approved 16q13 16q13 "KIAA0025|Mif1|HERP|SUP" homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 2000-11-29 2016-03-21 2023-03-15 9709 ENSG00000051108 OTTHUMG00000133276 uc002eke.3 AB034989 NM_001010989 "CCDS10771|CCDS45492" Q15011 "10922362|10708769" MGI:1927406 RGD:620818 HERPUD1 608070 HGNC:13744 "ENST00000439977.7|NM_014685.4" HGNC:21915 HERPUD2 HERPUD family member 2 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 FLJ22313 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2 2006-03-20 2006-03-20 2023-01-20 64224 ENSG00000122557 OTTHUMG00000128687 uc003tet.4 BC020264 NM_022373 CCDS5446 Q9BSE4 MGI:1915393 RGD:1307343 HGNC:21915 "ENST00000311350.8|NM_022373.5" HGNC:55258 HERPUD2-AS1 HERPUD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.2 07p14.2 Antisense RNAs 1987 2020-09-25 2020-09-25 101930085 ENSG00000271122 NR_136255 HGNC:5192 HES1 hes family bHLH transcription factor 1 protein-coding gene gene with protein product Approved 3q29 03q29 "FLJ20408|HES-1|bHLHb39" HRY "hairy homolog (Drosophila)|hairy and enhancer of split 1, (Drosophila)" Basic helix-loop-helix proteins 420 1993-09-21 2003-01-10 2013-10-17 2023-01-20 3280 ENSG00000114315 OTTHUMG00000155984 uc003ftq.3 L19314 NM_005524 CCDS3305 Q14469 8020957 MGI:104853 RGD:62081 139605 470442 HGNC:5192 "ENST00000232424.4|NM_005524.4" HGNC:16005 HES2 hes family bHLH transcription factor 2 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 bHLHb40 hairy and enhancer of split 2 (Drosophila) Basic helix-loop-helix proteins 420 2004-11-12 2013-10-17 2023-01-20 54626 ENSG00000069812 OTTHUMG00000000752 uc001amx.4 AL031848 NM_019089 CCDS30574 Q9Y543 15254753 MGI:1098624 RGD:62082 609970 HGNC:16005 "ENST00000377834.8|NM_019089.5" HGNC:26226 HES3 hes family bHLH transcription factor 3 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 bHLHb43 hairy and enhancer of split 3 (Drosophila) Basic helix-loop-helix proteins 420 2005-05-17 2013-10-17 2023-01-20 390992 ENSG00000173673 OTTHUMG00000001271 uc009vly.2 NM_001024598 CCDS41238 Q5TGS1 MGI:104877 RGD:621339 609971 HGNC:26226 "ENST00000377898.4|NM_001024598.4" -HGNC:24149 HES4 hes family bHLH transcription factor 4 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 bHLHb42 hairy and enhancer of split 4 (Drosophila) Basic helix-loop-helix proteins 420 2004-09-30 2013-10-17 2023-01-20 57801 ENSG00000188290 OTTHUMG00000040758 uc001aci.3 BC012351 NM_021170 "CCDS44034|CCDS5|CCDS90837" Q9HCC6 "11260262|15254753" 608060 HGNC:24149 "ENST00000304952.11|NM_021170.4" +HGNC:24149 HES4 hes family bHLH transcription factor 4 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 bHLHb42 hairy and enhancer of split 4 (Drosophila) Basic helix-loop-helix proteins 420 2004-09-30 2013-10-17 2023-01-20 57801 ENSG00000188290 OTTHUMG00000040758 uc001aci.3 BC012351 NM_021170 "CCDS5|CCDS44034|CCDS90837" Q9HCC6 "11260262|15254753" 608060 HGNC:24149 "ENST00000304952.11|NM_021170.4" HGNC:19764 HES5 hes family bHLH transcription factor 5 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 bHLHb38 hairy and enhancer of split 5 (Drosophila) Basic helix-loop-helix proteins 420 2002-11-26 2013-10-17 2023-01-20 388585 ENSG00000197921 OTTHUMG00000000793 uc001ajn.3 AL139246 NM_001010926 CCDS41233 Q5TA89 7836401 MGI:104876 RGD:621340 607348 HGNC:19764 "ENST00000378453.4|NM_001010926.4" -HGNC:18254 HES6 hes family bHLH transcription factor 6 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 bHLHb41 hairy and enhancer of split 6 (Drosophila) Basic helix-loop-helix proteins 420 2002-04-03 2013-10-17 2023-01-20 55502 ENSG00000144485 OTTHUMG00000133340 uc002vxz.4 AB035179 NM_018645 "CCDS2527|CCDS46556|CCDS63180" Q96HZ4 10851137 MGI:1859852 RGD:1312047 610331 HGNC:18254 "ENST00000272937.10|NM_018645.6" +HGNC:18254 HES6 hes family bHLH transcription factor 6 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 bHLHb41 hairy and enhancer of split 6 (Drosophila) Basic helix-loop-helix proteins 420 2002-04-03 2013-10-17 2023-01-20 55502 ENSG00000144485 OTTHUMG00000133340 uc002vxz.4 AB035179 NM_018645 "CCDS63180|CCDS46556|CCDS2527" Q96HZ4 10851137 MGI:1859852 RGD:1312047 610331 HGNC:18254 "ENST00000272937.10|NM_018645.6" HGNC:15977 HES7 hes family bHLH transcription factor 7 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 bHLHb37 bHLH factor Hes7 hairy and enhancer of split 7 (Drosophila) Basic helix-loop-helix proteins 420 2001-06-28 2013-10-17 2023-01-20 84667 ENSG00000179111 OTTHUMG00000178316 uc002gkc.4 AB049064 NM_032580 "CCDS54085|CCDS42258" Q9BYE0 11260262 MGI:2135679 RGD:1305914 608059 165577 HGNC:15977 "ENST00000541682.7|NM_001165967.2" HGNC:15977 HGNC:4877 HESX1 HESX homeobox 1 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "RPX|ANF" homeobox, ES cell expressed 1 PRD class homeoboxes and pseudogenes 521 1998-11-19 2007-02-16 2023-01-20 8820 ENSG00000163666 OTTHUMG00000158597 uc003din.5 AF059734 NM_001376058 CCDS2881 Q9UBX0 "9373136|9620767|7876132" MGI:96071 RGD:1563858 601802 8440 122398 HGNC:4877 "ENST00000295934.8|NM_003865.3" HGNC:4877 -HGNC:4878 HEXA hexosaminidase subunit alpha protein-coding gene gene with protein product Approved 15q23 15q23 "Tay Sachs disease|GM2 gangliosidosis|beta-hexosaminidase subunit alpha" hexosaminidase A (alpha polypeptide) Hexosaminidases 1642 2001-06-22 2016-01-22 2023-01-20 3073 ENSG00000213614 OTTHUMG00000133445 uc002aun.5 M13520 NM_000520 "CCDS10243|CCDS81905" P06865 "2952641|3013851" MGI:96073 RGD:2792 "Hexosaminidase A; Tay-Sachs Disease|http://www.hexdb.mcgill.ca|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/" 606869 122402 3.2.1.52 HGNC:4878 "ENST00000268097.10|NM_000520.6" HGNC:4878 +HGNC:4878 HEXA hexosaminidase subunit alpha protein-coding gene gene with protein product Approved 15q23 15q23 "Tay Sachs disease|GM2 gangliosidosis|beta-hexosaminidase subunit alpha" hexosaminidase A (alpha polypeptide) Hexosaminidases 1642 2001-06-22 2016-01-22 2023-01-20 3073 ENSG00000213614 OTTHUMG00000133445 uc002aun.5 M13520 NM_000520 "CCDS81905|CCDS10243" P06865 "2952641|3013851" MGI:96073 RGD:2792 "Hexosaminidase A; Tay-Sachs Disease|http://www.hexdb.mcgill.ca|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/" 606869 122402 3.2.1.52 HGNC:4878 "ENST00000268097.10|NM_000520.6" HGNC:4878 HGNC:25810 HEXA-AS1 HEXA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 FLJ13315 C15orf34 "chromosome 15 open reading frame 34|HEXA antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-10-20 2012-05-30 2012-08-15 2012-10-12 80072 ENSG00000260339 OTTHUMG00000177184 uc010ukp.1 NR_027262 Q9H8Q6 12477932 HEXA-AS1 HGNC:25810 HGNC:4879 HEXB hexosaminidase subunit beta protein-coding gene gene with protein product Approved 5q13.3 05q13.3 beta-hexosaminidase subunit beta hexosaminidase B (beta polypeptide) Hexosaminidases 1642 2001-06-22 2016-01-22 2023-01-20 3074 ENSG00000049860 OTTHUMG00000102057 uc003kdf.4 M13519 NM_000521 "CCDS78021|CCDS4022" P07686 "2579389|3013851" MGI:96074 RGD:1307607 HEXB Locus Database|http://www.hexdb.mcgill.ca 606873 122404 3.2.1.52 HGNC:4879 "ENST00000261416.12|NM_000521.4" HGNC:4879 HGNC:26307 HEXD hexosaminidase D protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ23825 hexosaminidase D, cytosolic HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing Hexosaminidases 1642 2006-01-12 2018-08-15 2016-03-30 2023-01-20 284004 ENSG00000169660 OTTHUMG00000178836 uc002kev.5 AK074405 NM_173620 "CCDS42402|CCDS82231" Q8WVB3 19040401 MGI:3605542 RGD:2302323 616864 3.2.1.52 HGNC:26307 "ENST00000327949.15|NM_001330542.2" @@ -11528,43 +11529,43 @@ HGNC:43650 HEXD-IT1 HEXD intronic transcript 1 non-coding RNA RNA, long non-codi HGNC:24953 HEXIM1 HEXIM P-TEFb complex subunit 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CLP-1|HIS1|MAQ1|EDG1" hexamethylene bisacetamide inducible 1 P-TEFb complex subunits 1281 2005-06-27 2018-11-15 2023-01-20 10614 ENSG00000186834 OTTHUMG00000180112 uc002iig.4 AB021179 NM_006460 CCDS11495 O94992 "12119119|12832472" MGI:2385923 RGD:1559851 607328 HGNC:24953 "ENST00000332499.4|NM_006460.3" HGNC:28591 HEXIM2 HEXIM P-TEFb complex subunit 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ32384 "hexamethylene bis-acetamide inducible 2|hexamethylene bisacetamide inducible 2" P-TEFb complex subunits 1281 2005-06-27 2018-11-15 2023-01-20 124790 ENSG00000168517 OTTHUMG00000180193 uc002iih.2 AK056946 NM_144608 CCDS11496 Q96MH2 "12832472|15713662" MGI:1918309 RGD:1311635 615695 HGNC:28591 "ENST00000589230.6|NM_001303441.2" HGNC:55857 HEXIM2-AS1 HEXIM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Antisense RNAs 1987 2021-09-03 2021-09-03 112268203 ENSG00000224505 -HGNC:4880 HEY1 hes related family bHLH transcription factor with YRPW motif 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "HESR-1|CHF2|HESR1|HRT-1|CHF-2|HERP2|bHLHb31" "hairy/enhancer-of-split related with YRPW motif 1|hes-related family bHLH transcription factor with YRPW motif 1" Basic helix-loop-helix proteins 420 1999-12-07 2016-02-23 2023-03-15 23462 ENSG00000164683 OTTHUMG00000164641 uc003ybm.3 AF151522 NM_012258 "CCDS43749|CCDS6225" Q9Y5J3 "10415358|10403790" MGI:1341800 RGD:621403 HEY1 602953 HGNC:4880 "ENST00000354724.8|NM_012258.4" +HGNC:4880 HEY1 hes related family bHLH transcription factor with YRPW motif 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "HESR-1|CHF2|HESR1|HRT-1|CHF-2|HERP2|bHLHb31" "hairy/enhancer-of-split related with YRPW motif 1|hes-related family bHLH transcription factor with YRPW motif 1" Basic helix-loop-helix proteins 420 1999-12-07 2016-02-23 2023-03-15 23462 ENSG00000164683 OTTHUMG00000164641 uc003ybm.3 AF151522 NM_012258 "CCDS6225|CCDS43749" Q9Y5J3 "10415358|10403790" MGI:1341800 RGD:621403 HEY1 602953 HGNC:4880 "ENST00000354724.8|NM_012258.4" HGNC:4881 HEY2 hes related family bHLH transcription factor with YRPW motif 2 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "bHLHb32|HERP1|HESR2" "hairy/enhancer-of-split related with YRPW motif 2|hes-related family bHLH transcription factor with YRPW motif 2" Basic helix-loop-helix proteins 420 1999-10-12 2016-02-23 2023-01-20 23493 ENSG00000135547 OTTHUMG00000015512 uc003qad.4 AJ249545 NM_012259 CCDS5131 Q9UBP5 10415358 MGI:1341884 RGD:621405 604674 470446 HGNC:4881 "ENST00000368364.4|NM_012259.3" HGNC:4881 HGNC:55652 HEY2-AS1 HEY2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22.31 06q22.31 Antisense RNAs 1987 2021-06-28 2021-06-28 105377986 ENSG00000237742 NR_183490 HGNC:4882 HEYL hes related family bHLH transcription factor with YRPW motif like protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "bHLHb33|HEY3|HESR3" hairy/enhancer-of-split related with YRPW motif 3 "hairy/enhancer-of-split related with YRPW motif-like|hes-related family bHLH transcription factor with YRPW motif-like" Basic helix-loop-helix proteins 420 1999-12-07 2019-02-18 2023-01-20 26508 ENSG00000163909 OTTHUMG00000000458 uc001cdp.4 BC006087 NM_014571 CCDS439 Q9NQ87 "10415358|10860664" MGI:1860511 RGD:1305022 609034 HGNC:4882 "ENST00000372852.4|NM_014571.4" -HGNC:4886 HFE homeostatic iron regulator protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "HLA-H|HFE1" high Fe hemochromatosis C1-set domain containing 591 1986-01-01 2018-03-01 2023-01-20 3077 ENSG00000010704 OTTHUMG00000016348 uc003nfx.2 NM_000410 "CCDS54975|CCDS75412|CCDS4578|CCDS4579|CCDS47386|CCDS47387|CCDS4580|CCDS4581|CCDS4582|CCDS54974" Q30201 "3460331|28474781|9054933" MGI:109191 RGD:2793 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_748|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_748.xml" 613609 123411 HGNC:4886 "ENST00000357618.10|NM_000410.4" HGNC:4886 +HGNC:4886 HFE homeostatic iron regulator protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "HLA-H|HFE1" high Fe hemochromatosis C1-set domain containing 591 1986-01-01 2018-03-01 2023-01-20 3077 ENSG00000010704 OTTHUMG00000016348 uc003nfx.2 NM_000410 "CCDS47386|CCDS54974|CCDS54975|CCDS4578|CCDS4581|CCDS47387|CCDS4579|CCDS4582|CCDS4580|CCDS75412" Q30201 "3460331|28474781|9054933" MGI:109191 RGD:2793 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_748|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_748.xml" 613609 123411 HGNC:4886 "ENST00000357618.10|NM_000410.4" HGNC:4886 HGNC:55168 HFE-AS1 HFE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.2 06p22.2 Antisense RNAs 1987 2020-07-22 2020-07-22 108783645 NR_144383 HGNC:20193 HFM1 helicase for meiosis 1 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "MER3|FLJ39011|FLJ36760" SEC63D1 "SEC63 domain containing 1|HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)|HFM1, ATP dependent DNA helicase homolog" RNA helicases 1168 2005-07-29 2019-01-31 2023-01-20 164045 ENSG00000162669 OTTHUMG00000010093 uc001doa.4 AB204867 NM_001017975 CCDS30769 A2PYH4 "14702039|17286053|23555294" MGI:3036246 RGD:1584010 615684 400664 HGNC:20193 "ENST00000370425.8|NM_001017975.6" HGNC:20193 HGNC:4892 HGD homogentisate 1,2-dioxygenase protein-coding gene gene with protein product Approved 3q13.33 03q13.33 HGO homogentisate oxidase AKU homogentisate 1,2-dioxygenase (homogentisate oxidase) 1993-07-26 2010-04-27 2023-01-20 3081 ENSG00000113924 OTTHUMG00000159441 uc003edw.4 NM_000187 CCDS3000 Q93099 8188241 MGI:96078 RGD:1308757 607474 122408 1.13.11.5 HGNC:4892 "ENST00000283871.10|NM_000187.4" HGNC:4892 -HGNC:4893 HGF hepatocyte growth factor protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "SF|F-TCF|HGFB|HPTA" "hepatopoietin A|fibroblast-derived tumor cytotoxic factor|scatter factor|lung fibroblast-derived mitogen" DFNB39 "deafness, autosomal recessive 39|hepatocyte growth factor (hepapoietin A; scatter factor)" 1991-06-07 2016-02-03 2023-01-20 3082 ENSG00000019991 OTTHUMG00000023804 uc003uhl.4 NM_000601 "CCDS47628|CCDS47627|CCDS47629|CCDS47626|CCDS5597" P14210 "1837206|19576567" MGI:96079 RGD:2794 142409 201589 S01.976 ligandId:4950 HGNC:4893 "ENST00000222390.11|NM_000601.6" HGNC:4893 +HGNC:4893 HGF hepatocyte growth factor protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "SF|F-TCF|HGFB|HPTA" "hepatopoietin A|fibroblast-derived tumor cytotoxic factor|scatter factor|lung fibroblast-derived mitogen" DFNB39 "deafness, autosomal recessive 39|hepatocyte growth factor (hepapoietin A; scatter factor)" 1991-06-07 2016-02-03 2023-01-20 3082 ENSG00000019991 OTTHUMG00000023804 uc003uhl.4 NM_000601 "CCDS47629|CCDS47627|CCDS47628|CCDS5597|CCDS47626" P14210 "1837206|19576567" MGI:96079 RGD:2794 142409 201589 S01.976 ligandId:4950 HGNC:4893 "ENST00000222390.11|NM_000601.6" HGNC:4893 HGNC:4894 HGFAC HGF activator protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "HGFAP|HGFA" 1998-06-25 2023-01-20 3083 ENSG00000109758 OTTHUMG00000090281 uc003ghc.4 D14012 NM_001297439 "CCDS75098|CCDS3369" Q04756 "7683665|8226803" MGI:1859281 RGD:70909 604552 S01.228 3.4.21.- HGNC:4894 "ENST00000382774.8|NM_001528.4" HGNC:24161 HGH1 HGH1 homolog protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FLJ40907|LOC51236|Brp16" brain protein 16 "C8orf30A|FAM203B|C8orf30B|FAM203A" "chromosome 8 open reading frame 30A|family with sequence similarity 203, member B|chromosome 8 open reading frame 30B|family with sequence similarity 203, member A|HGH1 homolog (S. cerevisiae)" Armadillo like helical domain containing 1492 2005-10-06 2014-06-19 2015-07-03 2023-01-20 51236 ENSG00000235173 OTTHUMG00000165246 AF151022 NM_016458 CCDS6417 Q9BTY7 MGI:1930628 RGD:1359226 HGNC:24161 "ENST00000347708.5|NM_016458.4" HGNC:4897 HGS hepatocyte growth factor-regulated tyrosine kinase substrate protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "Hrs|ZFYVE8|Vps27" "Zinc fingers FYVE-type|ESCRT-0|MicroRNA protein coding host genes" "81|1115|1691" 1999-01-07 2023-01-20 9146 ENSG00000185359 OTTHUMG00000178109 uc002kbg.4 D84064 NM_004712 CCDS11784 O14964 "9407053|9630564" MGI:104681 RGD:69225 604375 HGNC:4897 "ENST00000329138.9|NM_004712.5" HGNC:26527 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase protein-coding gene gene with protein product Approved 8p11.21-p11.1 08p11.21-p11.1 "FLJ32731|HGNAT" TMEM76 transmembrane protein 76 2005-09-23 2006-08-16 2006-09-05 2023-01-20 138050 ENSG00000165102 OTTHUMG00000164102 uc003xpx.5 NM_152419 CCDS47852 Q68CP4 "17033958|16960811" MGI:1196297 RGD:1560755 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HGSNAT 610453 122412 2.3.1.78 HGNC:26527 "ENST00000379644.9|NM_152419.3" HGNC:26527 -HGNC:18270 HHAT hedgehog acyltransferase protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "FLJ10724|MART-2|MART2|Skn|ski|rasp|sit|GUP2" protein-cysteine N-palmitoyltransferase HHAT Membrane bound O-acyltransferase family 1036 2004-09-15 2023-01-20 55733 ENSG00000054392 OTTHUMG00000036447 uc009xcx.3 AK001586 NM_018194 "CCDS53471|CCDS1495|CCDS53473|CCDS53472" Q5VTY9 11160356 MGI:2444681 RGD:1311746 605743 404789 HGNC:18270 "ENST00000261458.8|NM_018194.6" HGNC:18270 +HGNC:18270 HHAT hedgehog acyltransferase protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "FLJ10724|MART-2|MART2|Skn|ski|rasp|sit|GUP2" protein-cysteine N-palmitoyltransferase HHAT Membrane bound O-acyltransferase family 1036 2004-09-15 2023-01-20 55733 ENSG00000054392 OTTHUMG00000036447 uc009xcx.3 AK001586 NM_018194 "CCDS53472|CCDS53471|CCDS1495|CCDS53473" Q5VTY9 11160356 MGI:2444681 RGD:1311746 605743 404789 HGNC:18270 "ENST00000261458.8|NM_018194.6" HGNC:18270 HGNC:13242 HHATL hedgehog acyltransferase like protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "KIAA1173|OACT3|MSTP002|MBOAT3" "membrane bound O-acyltransferase domain containing 3|Protein-cysteine N-palmitoyltransferase HHAT-like protein" "C3orf3|GUP1" "chromosome 3 open reading frame 3|GUP1, glycerol uptake/transporter homolog (yeast)" Membrane bound O-acyltransferase family 1036 2004-11-26 2007-02-06 2017-06-13 2023-01-20 57467 ENSG00000010282 OTTHUMG00000133043 uc003clx.3 AB042554 NM_020707 CCDS2704 Q9HCP6 11374908 MGI:1922020 RGD:1311911 608116 HGNC:13242 "ENST00000441594.6|NM_020707.4" HGNC:42439 HHATL-AS1 HHATL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 HHATL antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 100874044 ENSG00000230970 OTTHUMG00000156258 uc062irl.1 NR_146957 HHATL-AS1 HGNC:42439 HGNC:4901 HHEX hematopoietically expressed homeobox protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "HEX|HOX11L-PEN" PRHX NKL subclass homeoboxes and pseudogenes 519 1998-08-04 2007-02-15 2023-01-20 3087 ENSG00000152804 OTTHUMG00000018762 uc001kid.4 Z21533 NM_002729 CCDS7423 Q03014 "8096636|8103988" MGI:96086 RGD:619932 604420 8441 470448 HGNC:4901 "ENST00000282728.10|NM_002729.5" HGNC:14866 HHIP hedgehog interacting protein protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "HIP|FLJ20992" hedgehog-interacting protein 2002-02-15 2001-11-29 2023-01-20 64399 ENSG00000164161 OTTHUMG00000161428 uc003ijs.3 AK024645 NM_022475 CCDS3762 Q96QV1 "11435703|11731473" MGI:1341847 RGD:1564108 606178 HGNC:14866 "ENST00000296575.8|NM_022475.3" HGNC:44182 HHIP-AS1 HHIP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 HHAS1 HHIP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2023-02-27 646576 ENSG00000248890 OTTHUMG00000161429 uc062zxw.1 NR_037595 34185419 HHIP-AS1 HGNC:44182 -HGNC:19710 HHIPL1 HHIP like 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 KIAA1822 "KIAA1822|HHIP-like 1" Scavenger receptor cysteine rich domain containing 1404 2003-11-21 2008-01-16 2016-01-21 2023-01-20 84439 ENSG00000182218 OTTHUMG00000171509 uc010avs.4 AB058725 NM_001127258 "CCDS9953|CCDS45162" Q96JK4 MGI:1919265 RGD:1311698 HGNC:19710 "ENST00000330710.10|NM_001127258.3" +HGNC:19710 HHIPL1 HHIP like 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 KIAA1822 "KIAA1822|HHIP-like 1" Scavenger receptor cysteine rich domain containing 1404 2003-11-21 2008-01-16 2016-01-21 2023-01-20 84439 ENSG00000182218 OTTHUMG00000171509 uc010avs.4 AB058725 NM_001127258 "CCDS45162|CCDS9953" Q96JK4 MGI:1919265 RGD:1311698 HGNC:19710 "ENST00000330710.10|NM_001127258.3" HGNC:25842 HHIPL2 HHIP like 2 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ13840 KIAA1822L "KIAA1822-like|HHIP-like 2" 2005-04-22 2008-01-16 2016-01-21 2023-01-20 79802 ENSG00000143512 OTTHUMG00000037545 uc001hnh.2 BC007638 NM_024746 CCDS1530 Q6UWX4 12975309 MGI:1926022 RGD:1311317 620214 HGNC:25842 "ENST00000343410.7|NM_024746.4" HGNC:4904 HHLA1 HHLA1 neighbor of OC90 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 PLA2L HERV-H LTR-associating 1 1999-01-19 2023-05-05 2023-05-05 10086 ENSG00000132297 OTTHUMG00000140390 uc064qho.1 AF110315 NM_001145095 C9JL84 10329003 MGI:3615329 RGD:15008789 604109 HGNC:4904 "ENST00000414222.2|NM_001145095.3" -HGNC:4905 HHLA2 HHLA2 member of B7 family protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "B7H7|B7-H5|B7y|B7-H7" HERV-H LTR-associating 2 "V-set domain containing|C1-set domain containing|B7 family" "590|591|1824" 1999-09-07 2023-05-05 2023-05-05 11148 ENSG00000114455 OTTHUMG00000159224 uc062mge.1 AF126162 NM_007072 "CCDS63713|CCDS46883|CCDS74975" Q9UM44 "10444326|23784006|22488247" RGD:11472061 604371 HGNC:4905 "ENST00000467761.6|NM_001282556.2" +HGNC:4905 HHLA2 HHLA2 member of B7 family protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "B7H7|B7-H5|B7y|B7-H7" HERV-H LTR-associating 2 "V-set domain containing|C1-set domain containing|B7 family" "590|591|1824" 1999-09-07 2023-05-05 2023-05-05 11148 ENSG00000114455 OTTHUMG00000159224 uc062mge.1 AF126162 NM_007072 "CCDS74975|CCDS46883|CCDS63713" Q9UM44 "10444326|23784006|22488247" RGD:11472061 604371 HGNC:4905 "ENST00000467761.6|NM_001282556.2" HGNC:4907 HIBADH 3-hydroxyisobutyrate dehydrogenase protein-coding gene gene with protein product Approved 7p15.2 07p15.2 NS5ATP1 1999-08-05 2023-01-20 11112 ENSG00000106049 OTTHUMG00000097035 uc003szf.4 AF529362 NM_152740 CCDS5414 P31937 MGI:1889802 RGD:708399 608475 1.1.1.31 HGNC:4907 "ENST00000265395.7|NM_152740.4" -HGNC:4908 HIBCH 3-hydroxyisobutyryl-CoA hydrolase protein-coding gene gene with protein product Approved 2q32.2 02q32.2 3-hydroxyisobutyryl-Coenzyme A hydrolase 1999-12-07 2010-04-29 2023-01-20 26275 ENSG00000198130 OTTHUMG00000132673 uc002uru.3 U66669 NM_014362 "CCDS46475|CCDS2304" Q6NVY1 8824301 MGI:1923792 RGD:1308392 610690 159703 3.1.2.4 HGNC:4908 "ENST00000359678.10|NM_014362.4" HGNC:4908 +HGNC:4908 HIBCH 3-hydroxyisobutyryl-CoA hydrolase protein-coding gene gene with protein product Approved 2q32.2 02q32.2 3-hydroxyisobutyryl-Coenzyme A hydrolase 1999-12-07 2010-04-29 2023-01-20 26275 ENSG00000198130 OTTHUMG00000132673 uc002uru.3 U66669 NM_014362 "CCDS2304|CCDS46475" Q6NVY1 8824301 MGI:1923792 RGD:1308392 610690 159703 3.1.2.4 HGNC:4908 "ENST00000359678.10|NM_014362.4" HGNC:4908 HGNC:4909 HIC1 HIC ZBTB transcriptional repressor 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "ZBTB29|ZNF901" hypermethylated in cancer 1 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1996-03-19 2016-10-03 2023-01-20 3090 ENSG00000177374 OTTHUMG00000177635 uc010cjy.4 NM_006497 "CCDS42229|CCDS42230" Q14526 MGI:1338010 RGD:1307527 603825 122417 HGNC:4909 "ENST00000619757.5|NM_006497.4" HGNC:18595 HIC2 HIC ZBTB transcriptional repressor 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "KIAA1020|HRG22|ZBTB30|ZNF907" hypermethylated in cancer 2 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2002-04-29 2016-10-03 2023-01-20 23119 ENSG00000169635 OTTHUMG00000150781 uc002zur.5 AB028943 NM_015094 CCDS13789 Q96JB3 11554746 MGI:1929869 RGD:1305338 607712 HGNC:18595 "ENST00000407464.7|NM_015094.3" HGNC:15736 HID1 HID1 domain containing protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "DMC1|HID-1" downregulated in multiple cancer 1 C17orf28 chromosome 17 open reading frame 28 2001-06-11 2012-10-10 2012-10-10 2023-01-20 283987 ENSG00000167861 OTTHUMG00000166490 uc002jmj.5 NM_030630 CCDS32726 Q8IV36 "11281419|21337012" MGI:2445087 RGD:1311422 605752 470224 HGNC:15736 "ENST00000425042.7|NM_030630.3" HGNC:51181 HID1-AS1 HID1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 Antisense RNAs 1987 2014-08-01 2014-08-01 102723641 ENSG00000263586 OTTHUMG00000179217 NR_110878 HID1-AS1 HGNC:51181 -HGNC:4910 HIF1A hypoxia inducible factor 1 subunit alpha protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "MOP1|HIF-1alpha|PASD8|HIF1|bHLHe78" "PAS domain-containing protein 8|Class E basic helix-loop-helix protein 78|Member of PAS protein 1" hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1995-03-27 2018-04-23 2023-03-15 3091 ENSG00000100644 OTTHUMG00000140344 uc001xfq.3 U22431 NM_001530 "CCDS9753|CCDS9754" Q16665 "8786149|9079689" MGI:106918 RGD:61928 HIF1A 603348 470450 HGNC:4910 "ENST00000337138.9|NM_001530.4" +HGNC:4910 HIF1A hypoxia inducible factor 1 subunit alpha protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "MOP1|HIF-1alpha|PASD8|HIF1|bHLHe78" "PAS domain-containing protein 8|Class E basic helix-loop-helix protein 78|Member of PAS protein 1" hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1995-03-27 2018-04-23 2023-03-15 3091 ENSG00000100644 OTTHUMG00000140344 uc001xfq.3 U22431 NM_001530 "CCDS9754|CCDS9753" Q16665 "8786149|9079689" MGI:106918 RGD:61928 HIF1A 603348 470450 HGNC:4910 "ENST00000337138.9|NM_001530.4" HGNC:43014 HIF1A-AS1 HIF1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.2 14q23.2 5'aHIF-1A HIF1A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-16 2012-08-15 2016-11-11 100750246 ENSG00000258777 OTTHUMG00000171134 uc032bdp.1 CN270307 NR_047116 "21897117|24875884" 614528 HGNC:43014 HGNC:43015 HIF1A-AS2 HIF1A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 14q23.2 14q23.2 "3'aHIF-1A|aHIF" HIF1A antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-09-16 2012-08-15 2019-05-01 100750247 OTTHUMG00000171135 uc059cgn.1 NR_045406 "21897117|27018306" 614529 HIF1A-AS2 HGNC:43015 HGNC:54284 HIF1A-AS3 HIF1A antisense RNA 3 non-coding RNA RNA, long non-coding Approved 14q23.2 14q23.2 HIFAL HIF-1alpha anti-sense lncRNA Antisense RNAs 1987 2019-05-01 2022-12-08 105370526 ENSG00000258667 NR_144368 33637716 HGNC:54284 HGNC:17113 HIF1AN hypoxia inducible factor 1 subunit alpha inhibitor protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FLJ20615|DKFZp762F1811|FLJ22027|FIH1" Peptide-aspartate beta-dioxygenase JmjC hydroxylases 1346 2001-11-27 2018-04-23 2023-01-20 55662 ENSG00000166135 OTTHUMG00000018911 uc001krj.5 AK000622 NM_017902 CCDS7498 Q9NWT6 11641274 MGI:2442345 RGD:1308281 606615 470452 1.14.11.16 HGNC:17113 "ENST00000299163.7|NM_017902.3" HGNC:43016 HIF1AP1 HIF1AP pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) pseudogene 1 2011-09-16 2018-04-23 2018-04-23 100874523 ENSG00000258978 OTTHUMG00000171769 NG_051093 PGOHUM00000292409 HGNC:43016 -HGNC:15825 HIF3A hypoxia inducible factor 3 subunit alpha protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "IPAS|MOP7|PASD7|bHLHe17" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2001-06-13 2018-04-23 2023-03-15 64344 ENSG00000124440 OTTHUMG00000141296 uc002peh.3 AK027725 NM_022462 "CCDS42580|CCDS12681|CCDS12682" Q9Y2N7 "11573933|11734856" MGI:1859778 RGD:70332 609976 470454 HGNC:15825 "ENST00000377670.9|NM_152795.4" -HGNC:29527 HIGD1A HIG1 hypoxia inducible domain family member 1A protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "HIG1|DKFZP564K247|RCF1A" hypoxia inducible gene 1 "HIG1 domain family, member 1A|HIG1 hypoxia inducible domain family, member 1A" Mitochondrial respiratory chain complex assembly factors 645 2005-08-31 2015-11-18 2023-01-20 25994 ENSG00000181061 OTTHUMG00000190394 uc003cmb.5 BC009583 NM_014056 "CCDS43073|CCDS46806" Q9Y241 "22342701|25605899" MGI:1930666 RGD:620215 618623 HGNC:29527 "ENST00000321331.12|NM_014056.4" +HGNC:15825 HIF3A hypoxia inducible factor 3 subunit alpha protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "IPAS|MOP7|PASD7|bHLHe17" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2001-06-13 2018-04-23 2023-03-15 64344 ENSG00000124440 OTTHUMG00000141296 uc002peh.3 AK027725 NM_022462 "CCDS12682|CCDS42580|CCDS12681" Q9Y2N7 "11573933|11734856" MGI:1859778 RGD:70332 609976 470454 HGNC:15825 "ENST00000377670.9|NM_152795.4" +HGNC:29527 HIGD1A HIG1 hypoxia inducible domain family member 1A protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "HIG1|DKFZP564K247|RCF1A" hypoxia inducible gene 1 "HIG1 domain family, member 1A|HIG1 hypoxia inducible domain family, member 1A" Mitochondrial respiratory chain complex assembly factors 645 2005-08-31 2015-11-18 2023-01-20 25994 ENSG00000181061 OTTHUMG00000190394 uc003cmb.5 BC009583 NM_014056 "CCDS46806|CCDS43073" Q9Y241 "22342701|25605899" MGI:1930666 RGD:620215 618623 HGNC:29527 "ENST00000321331.12|NM_014056.4" HGNC:22804 HIGD1AP1 HIG1 hypoxia inducible domain family member 1A pseudogene 1 pseudogene pseudogene Approved 12q13.13 12q13.13 "HIGD1D|HIGD1DP" "HIG1 hypoxia inducible domain family, member 1D|HIG1 hypoxia inducible domain family, member 1D, pseudogene|HIG1 hypoxia inducible domain family, member 1A pseudogene 1" 2005-08-31 2011-08-10 2015-11-18 2020-04-20 100129086 ENSG00000258016 OTTHUMG00000170023 DQ052161 NG_009611 PGOHUM00000239792 HGNC:22804 HGNC:42642 HIGD1AP2 HIG1 hypoxia inducible domain family member 1A pseudogene 2 pseudogene pseudogene Approved 13q31.1 13q31.1 HIG1 hypoxia inducible domain family, member 1A pseudogene 2 2011-08-10 2015-11-18 2015-11-18 100874450 ENSG00000237148 OTTHUMG00000017145 NG_032523 PGOHUM00000248648 HGNC:42642 HGNC:42998 HIGD1AP3 HIG1 hypoxia inducible domain family member 1A pseudogene 3 pseudogene pseudogene Approved 5q35.2 05q35.2 HIG1 hypoxia inducible domain family, member 1A pseudogene 3 2011-09-16 2015-11-18 2015-11-18 100859920 ENSG00000248929 OTTHUMG00000163131 NG_031935 PGOHUM00000235839 HGNC:42998 @@ -11602,26 +11603,26 @@ HGNC:38049 HINT1P2 histidine triad nucleotide binding protein 1 pseudogene 2 pse HGNC:18344 HINT2 histidine triad nucleotide binding protein 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Histidine triad superfamily 1811 2002-03-07 2023-01-20 84681 ENSG00000137133 OTTHUMG00000019886 uc003zyh.4 AY033094 NM_032593 CCDS6594 Q9BX68 MGI:1916167 RGD:1308910 609997 HGNC:18344 "ENST00000259667.6|NM_032593.3" HGNC:50311 HINT2P1 histidine triad nucleotide binding protein 2 pseudogene 1 pseudogene pseudogene Approved 3p26.3 03p26.3 2014-04-07 2014-04-07 101929471 ENSG00000230398 OTTHUMG00000154863 PGOHUM00000237924 HGNC:50311 HGNC:18468 HINT3 histidine triad nucleotide binding protein 3 protein-coding gene gene with protein product Approved 6q22.32 06q22.32 "FLJ33126|HINT4" Histidine triad superfamily 1811 2002-04-10 2023-01-20 135114 ENSG00000111911 OTTHUMG00000015514 uc003qal.5 AK057688 NM_138571 CCDS5133 Q9NQE9 11805111 MGI:1914097 RGD:621603 609998 HGNC:18468 "ENST00000229633.7|NM_138571.5" -HGNC:4913 HIP1 huntingtin interacting protein 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 ILWEQ 1997-08-28 2023-01-20 3092 ENSG00000127946 OTTHUMG00000156050 uc003uds.4 AF052288 NM_005338 "CCDS94128|CCDS59060|CCDS34669" O00291 "9140394|9147654" MGI:1099804 RGD:620305 HIP1 601767 HGNC:4913 "ENST00000336926.11|NM_005338.7" +HGNC:4913 HIP1 huntingtin interacting protein 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 ILWEQ 1997-08-28 2023-01-20 3092 ENSG00000127946 OTTHUMG00000156050 uc003uds.4 AF052288 NM_005338 "CCDS59060|CCDS34669|CCDS94128" O00291 "9140394|9147654" MGI:1099804 RGD:620305 HIP1 601767 HGNC:4913 "ENST00000336926.11|NM_005338.7" HGNC:18415 HIP1R huntingtin interacting protein 1 related protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA0655|HIP3|HIP12|FLJ14000|ILWEQ" 2006-01-23 2023-01-20 9026 ENSG00000130787 OTTHUMG00000168765 uc001udj.2 AB013384 NM_003959 CCDS31922 O75146 16415883 MGI:1352504 RGD:621615 605613 HGNC:18415 "ENST00000253083.9|NM_003959.3" -HGNC:19006 HIPK1 homeodomain interacting protein kinase 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "KIAA0630|Myak|MGC26642|Nbak2|MGC33446|MGC33548" 2004-01-29 2023-01-20 204851 ENSG00000163349 OTTHUMG00000011983 uc001een.4 AB089957 NM_198268 "CCDS41370|CCDS868|CCDS91025|CCDS867|CCDS869" Q86Z02 MGI:1314873 RGD:1304941 608003 objectId:2033 HGNC:19006 "ENST00000426820.7|NM_198268.3" +HGNC:19006 HIPK1 homeodomain interacting protein kinase 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "KIAA0630|Myak|MGC26642|Nbak2|MGC33446|MGC33548" 2004-01-29 2023-01-20 204851 ENSG00000163349 OTTHUMG00000011983 uc001een.4 AB089957 NM_198268 "CCDS868|CCDS867|CCDS869|CCDS41370|CCDS91025" Q86Z02 MGI:1314873 RGD:1304941 608003 objectId:2033 HGNC:19006 "ENST00000426820.7|NM_198268.3" HGNC:50576 HIPK1-AS1 HIPK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Antisense RNAs 1987 2014-05-21 2017-08-30 101928846 ENSG00000235527 OTTHUMG00000011982 NR_110725 28839111 HIPK1-AS1 HGNC:50576 HGNC:14402 HIPK2 homeodomain interacting protein kinase 2 protein-coding gene gene with protein product Approved 7q34 07q34 homeodomain-interacting protein kinase 2 2001-01-12 2001-11-29 2023-01-20 28996 ENSG00000064393 OTTHUMG00000157704 uc003vvf.5 AF208291 NM_022740 "CCDS75667|CCDS75666" Q9H2X6 11120354 MGI:1314872 RGD:1309349 606868 objectId:2034 HGNC:14402 "ENST00000406875.8|NM_022740.5" HGNC:4915 HIPK3 homeodomain interacting protein kinase 3 protein-coding gene gene with protein product Approved 11p13 11p13 "PKY|DYRK6|YAK1|FIST3" homeodomain-interacting protein kinase 3 1999-05-25 2001-11-29 2023-01-20 10114 ENSG00000110422 OTTHUMG00000132269 uc001mum.3 AF004849 NM_005734 "CCDS41634|CCDS7884" Q9H422 "9373137|9748262" MGI:1314882 RGD:619884 604424 objectId:2035 HGNC:4915 "ENST00000303296.9|NM_005734.5" HGNC:19007 HIPK4 homeodomain interacting protein kinase 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ32818 2004-01-29 2023-01-20 147746 ENSG00000160396 OTTHUMG00000182598 uc002onp.3 BC034501 NM_144685 CCDS12555 Q8NE63 MGI:2685008 RGD:1307541 611712 objectId:2036 HGNC:19007 "ENST00000291823.3|NM_144685.5" HGNC:19007 HGNC:4916 HIRA histone cell cycle regulator protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "DGCR1|TUP1" "DiGeorge critical region gene 1|histone regulator A" TUPLE1 HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae) "WD repeat domain containing|HIRA histone chaperone complex subunits" "362|1997" 1994-04-21 2013-05-03 2023-01-20 7290 ENSG00000100084 OTTHUMG00000150134 uc002zpf.2 X75296 NM_003325 CCDS13759 P54198 "8111380|7633437|9731536" MGI:99430 RGD:1584950 600237 286557 HGNC:4916 "ENST00000263208.5|NM_003325.4" HGNC:44916 HIRAP1 histone cell cycle regulator pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 HIR histone cell cycle regulation defective homolog A pseudogene 1 2012-12-18 2013-05-03 2016-08-15 100422545 ENSG00000271563 OTTHUMG00000184668 NG_025478 PGOHUM00000290072 HGNC:44916 -HGNC:4917 HIRIP3 HIRA interacting protein 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 HIRA-interacting protein 3 1999-09-28 2001-11-29 2023-01-20 8479 ENSG00000149929 OTTHUMG00000132118 uc002dve.4 AJ223351 NM_003609 "CCDS58449|CCDS10664" Q9BW71 9710638 MGI:2142364 RGD:1306463 603365 HGNC:4917 "ENST00000279392.8|NM_003609.5" +HGNC:4917 HIRIP3 HIRA interacting protein 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 HIRA-interacting protein 3 1999-09-28 2001-11-29 2023-01-20 8479 ENSG00000149929 OTTHUMG00000132118 uc002dve.4 AJ223351 NM_003609 "CCDS10664|CCDS58449" Q9BW71 9710638 MGI:2142364 RGD:1306463 603365 HGNC:4917 "ENST00000279392.8|NM_003609.5" HGNC:49467 HISLA HIF1A stabilizing long noncoding RNA non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 HIF-1alpha-stabilizing long noncoding RNA LINC01146 long intergenic non-protein coding RNA 1146 Long non-coding RNAs with non-systematic symbols 1992 2013-12-06 2022-03-24 2022-03-24 2022-03-24 283587 ENSG00000258867 OTTHUMG00000170740 NR_046094 30936474 LINC01146 HGNC:49467 HGNC:4920 HIVEP1 HIVEP zinc finger 1 protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "CIRIP|MBP-1|CRYBP1|PRDII-BF1|ZAS1|Schnurri-1|ZNF40A" ZNF40 "human immunodeficiency virus type I enhancer-binding protein 1|zinc finger protein 40|human immunodeficiency virus type I enhancer binding protein 1" Zinc fingers C2H2-type 28 1990-10-04 2019-07-24 2023-01-20 3096 ENSG00000095951 OTTHUMG00000014265 uc003nac.4 J05011 NM_002114 CCDS43426 P15822 "2108316|2037300|2504707" MGI:96100 RGD:727847 194540 HGNC:4920 "ENST00000379388.7|NM_002114.4" HGNC:4921 HIVEP2 HIVEP zinc finger 2 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "MBP-2|HIV-EP2|MIBP1|ZAS2|Schnurri-2|ZNF40B" c-myc intron binding protein 1 "human immunodeficiency virus type I enhancer-binding protein 2|human immunodeficiency virus type I enhancer binding protein 2" Zinc fingers C2H2-type 28 1992-10-21 2019-07-24 2023-01-20 3097 ENSG00000010818 OTTHUMG00000015713 uc003qjd.4 M60119 NM_006734 CCDS43510 P31629 "1733857|2022670" MGI:1338076 RGD:61988 143054 470458 HGNC:4921 "ENST00000367603.8|NM_006734.4" HGNC:4921 HGNC:55724 HIVEP2-DT HIVEP2 divergent transcript non-coding RNA RNA, long non-coding Approved 6q24.2 06q24.2 PILA PRMT1-interacting lncRNA Divergent transcripts 1990 2021-07-13 2022-08-17 107986655 ENSG00000232618 XR_001744397 35609127 HGNC:13561 HIVEP3 HIVEP zinc finger 3 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "KRC|KBP1|KBP-1|SHN3|FLJ16752|KIAA1555|ZAS3|Schnurri-3|ZNF40C" kappabinding protein-1 "human immunodeficiency virus type I enhancer-binding protein 3|human immunodeficiency virus type I enhancer binding protein 3" Zinc fingers C2H2-type 28 2000-09-25 2019-07-24 2023-01-20 59269 ENSG00000127124 OTTHUMG00000006361 uc001cgz.5 AF278765 NM_024503 "CCDS44124|CCDS463" Q5T1R4 11161801 MGI:106589 RGD:1311252 606649 HGNC:13561 "ENST00000372583.6|NM_024503.5" -HGNC:25444 HJURP Holliday junction recognition protein protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "DKFZp762E1312|URLC9|hFLEG1|FAKTS" 2007-12-06 2023-01-20 55355 ENSG00000123485 OTTHUMG00000059125 uc002vvg.5 NM_018410 "CCDS63166|CCDS63167|CCDS33406" Q8NCD3 17823411 MGI:2685821 RGD:1305846 612667 HGNC:25444 "ENST00000411486.7|NM_018410.5" -HGNC:4887 HJV hemojuvelin BMP co-receptor protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "JH|HFE2A|RGMC|hemojuvelin|haemojuvelin" repulsive guidance molecule c HFE2 hemochromatosis type 2 (juvenile) Repulsive guidance molecule family 1587 1999-05-25 2018-02-02 2018-02-02 2023-01-20 148738 ENSG00000168509 OTTHUMG00000013748 uc001eni.4 AY372521 NM_145277 "CCDS72878|CCDS72877|CCDS72879" Q6ZVN8 "10205270|14647275" MGI:1916835 RGD:1310195 608374 123414 HGNC:4887 "ENST00000336751.11|NM_213653.4" HGNC:4887 -HGNC:4922 HK1 hexokinase 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 2001-06-22 2023-03-15 3098 ENSG00000156515 OTTHUMG00000018380 uc001jpl.5 M75126 NM_000188 "CCDS7292|CCDS7289|CCDS7291|CCDS91250" P19367 MGI:96103 RGD:2796 LRG_365|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_365.xml 142600 122420 2.7.1.1 HGNC:4922 "ENST00000359426.7|NM_000188.3" HGNC:4922 +HGNC:25444 HJURP Holliday junction recognition protein protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "DKFZp762E1312|URLC9|hFLEG1|FAKTS" 2007-12-06 2023-01-20 55355 ENSG00000123485 OTTHUMG00000059125 uc002vvg.5 NM_018410 "CCDS33406|CCDS63167|CCDS63166" Q8NCD3 17823411 MGI:2685821 RGD:1305846 612667 HGNC:25444 "ENST00000411486.7|NM_018410.5" +HGNC:4887 HJV hemojuvelin BMP co-receptor protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "JH|HFE2A|RGMC|hemojuvelin|haemojuvelin" repulsive guidance molecule c HFE2 hemochromatosis type 2 (juvenile) Repulsive guidance molecule family 1587 1999-05-25 2018-02-02 2018-02-02 2023-01-20 148738 ENSG00000168509 OTTHUMG00000013748 uc001eni.4 AY372521 NM_145277 "CCDS72879|CCDS72878|CCDS72877" Q6ZVN8 "10205270|14647275" MGI:1916835 RGD:1310195 608374 123414 HGNC:4887 "ENST00000336751.11|NM_213653.4" HGNC:4887 +HGNC:4922 HK1 hexokinase 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 2001-06-22 2023-03-15 3098 ENSG00000156515 OTTHUMG00000018380 uc001jpl.5 M75126 NM_000188 "CCDS7289|CCDS91250|CCDS7292|CCDS7291" P19367 MGI:96103 RGD:2796 LRG_365|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_365.xml 142600 122420 2.7.1.1 HGNC:4922 "ENST00000359426.7|NM_000188.3" HGNC:4922 HGNC:4923 HK2 hexokinase 2 protein-coding gene gene with protein product Approved 2p12 02p12 1993-03-11 2023-01-20 3099 ENSG00000159399 OTTHUMG00000129972 uc002snd.4 NM_000189 "CCDS92787|CCDS1956" P52789 MGI:1315197 RGD:2797 601125 2.7.1.1 HGNC:4923 "ENST00000290573.7|NM_000189.5" -HGNC:55204 HK2-DT HK2 divergent transcript non-coding RNA RNA, long non-coding Approved 2p12 02p12 Divergent transcripts 1990 2020-08-21 2020-08-21 118568819 ENSG00000272711 +HGNC:55204 HK2-DT HK2 divergent transcript non-coding RNA RNA, long non-coding Approved 2p12 02p12 Divergent transcripts 1990 2020-08-21 2020-08-21 118568819 ENSG00000272711 NR_185897 HGNC:4924 HK2P1 hexokinase 2 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 HK2P hexokinase 2 pseudogene 1995-05-26 2010-03-19 2010-03-19 2017-06-16 642546 ENSG00000228612 OTTHUMG00000021906 NG_009860 "7999069|28618048" PGOHUM00000241413 HGNC:4924 HGNC:4925 HK3 hexokinase 3 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 hexokinase 3 (white cell) 1993-03-11 2016-01-22 2023-01-20 3101 ENSG00000160883 OTTHUMG00000130855 uc003mfa.4 NM_002115 CCDS4407 P52790 8812439 MGI:2670962 RGD:2798 142570 2.7.1.1 HGNC:4925 "ENST00000292432.10|NM_002115.3" HGNC:23302 HKDC1 hexokinase domain containing 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "FLJ37767|FLJ22761" 2004-05-27 2023-01-20 80201 ENSG00000156510 OTTHUMG00000018371 uc001jpf.4 NM_025130 CCDS7288 Q2TB90 "25648650|27459389" MGI:2384910 RGD:2321830 617221 HGNC:23302 "ENST00000354624.6|NM_025130.4" @@ -11640,7 +11641,7 @@ HGNC:4941 HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudo HGNC:4942 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 CELIAC1 HLA-DQA "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2023-01-20 3117 ENSG00000196735 OTTHUMG00000031106 uc003obr.4 NM_002122 CCDS4752 P01909 MGI:95895 RGD:1595867 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 146880 138728 HGNC:4942 "ENST00000343139.11|NM_002122.5" HGNC:56667 HLA-DQA1-AS1 HLA-DQA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 TINA The Intragenic long Non-coding RNA running Antisense to HLA-DQA1 Antisense RNAs 1987 2022-12-21 2022-12-21 124901301 XR_007059544 36428462 HGNC:4943 HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HLA-DXA "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2023-01-20 3118 ENSG00000237541 OTTHUMG00000031108 uc011hzy.3 NM_020056 CCDS4753 P01906 MGI:95895 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 613503 HGNC:4943 "ENST00000374940.4|NM_020056.5" -HGNC:4944 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "IDDM1|CELIAC1" HLA-DQB "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2023-01-20 3119 ENSG00000179344 OTTHUMG00000031124 uc063nrh.1 NM_002123 "CCDS59006|CCDS43451" P01920 MGI:103070 RGD:3469 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 604305 211008 HGNC:4944 "ENST00000434651.7|NM_002123.5" +HGNC:4944 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "IDDM1|CELIAC1" HLA-DQB "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2023-01-20 3119 ENSG00000179344 OTTHUMG00000031124 uc063nrh.1 NM_002123 "CCDS43451|CCDS59006" P01920 MGI:103070 RGD:3469 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 604305 211008 HGNC:4944 "ENST00000434651.7|NM_002123.5" HGNC:39762 HLA-DQB1-AS1 HLA-DQB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 HLA-DQB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-21 2012-08-15 2012-10-12 106480429 ENSG00000223534 OTTHUMG00000140101 uc063nri.1 NR_133907 HLA-DQB1-AS1 HGNC:39762 HGNC:4945 HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HLA-DXB "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2023-01-20 3120 ENSG00000232629 OTTHUMG00000031125 uc063zhn.1 M83890 NM_001198858 "CCDS56419|CCDS78128" P05538 2564844 MGI:103070 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 615161 HGNC:4945 "ENST00000437316.7|NM_001300790.2" HGNC:4946 HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 other unknown Approved 6p21.3 06p21.3 "D6S205|D6S205E|DVB|DQB3" HLA-DVB Histocompatibility complex 588 1992-06-25 2019-06-26 3121 ENSG00000226030 OTTHUMG00000031127 M35000 "1529427|2571586" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ @@ -11655,9 +11656,9 @@ HGNC:4955 HLA-DRB7 major histocompatibility complex, class II, DR beta 7 (pseudo HGNC:4956 HLA-DRB8 major histocompatibility complex, class II, DR beta 8 (pseudogene) pseudogene pseudogene Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus Histocompatibility complex 588 1992-06-25 2015-07-31 3130 ENSG00000233697 OTTHUMG00000138997 "M20556|GL000253|GL000256" NG_002433 1529427 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4957 HLA-DRB9 major histocompatibility complex, class II, DR beta 9 (pseudogene) pseudogene pseudogene Approved 6p21.32 06p21.32 "D6S206|D6S206E" "HLA-DRB1L|HLA-DR1BL" Histocompatibility complex 588 1992-06-25 2016-10-05 3132 ENSG00000196301 OTTHUMG00000031197 S78510 NG_002432 1529427 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4957 HGNC:4962 HLA-E major histocompatibility complex, class I, E protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "Histocompatibility complex|C1-set domain containing" "588|591" 1988-05-11 2023-01-20 3133 ENSG00000204592 OTTHUMG00000031155 uc003nqg.4 M20022 NM_005516 CCDS34379 P13747 3131426 "MGI:95896|MGI:95904|MGI:95912|MGI:95913|MGI:95914|MGI:95917|MGI:95928|MGI:95929|MGI:95931|MGI:95933|MGI:95935|MGI:95936|MGI:95942|MGI:95956|MGI:95957|MGI:95959|MGI:892004|MGI:1276522|MGI:1276524|MGI:1276525|MGI:1276526|MGI:1276527|MG" RGD:1595923 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 143010 HGNC:4962 "ENST00000376630.5|NM_005516.6" -HGNC:4963 HLA-F major histocompatibility complex, class I, F protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "Histocompatibility complex|C1-set domain containing" "588|591" 1990-09-10 2023-01-20 3134 ENSG00000204642 OTTHUMG00000031156 uc011evc.3 AY253269 NM_018950 "CCDS43439|CCDS43438|CCDS43437" P30511 1688605 "MGI:95896|MGI:95904|MGI:95914|MGI:95917|MGI:95928|MGI:95929|MGI:95931|MGI:95935|MGI:95936|MGI:95956|MGI:1276522|MGI:1276525|MGI:1276527|MGI:2676637|MGI:2687364|MGI:3647514|MGI:3704134|MGI:3779381" RGD:1595868 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 143110 HGNC:4963 "ENST00000259951.12|NM_001098479.2" +HGNC:4963 HLA-F major histocompatibility complex, class I, F protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "Histocompatibility complex|C1-set domain containing" "588|591" 1990-09-10 2023-01-20 3134 ENSG00000204642 OTTHUMG00000031156 uc011evc.3 AY253269 NM_018950 "CCDS43437|CCDS43439|CCDS43438" P30511 1688605 "MGI:95896|MGI:95904|MGI:95914|MGI:95917|MGI:95928|MGI:95929|MGI:95931|MGI:95935|MGI:95936|MGI:95956|MGI:1276522|MGI:1276525|MGI:1276527|MGI:2676637|MGI:2687364|MGI:3647514|MGI:3704134|MGI:3779381" RGD:1595868 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 143110 HGNC:4963 "ENST00000259951.12|NM_001098479.2" HGNC:26645 HLA-F-AS1 HLA-F antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 HLA-F antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-21 2012-08-15 2020-01-10 285830 ENSG00000214922 OTTHUMG00000185970 uc003rsi.4 AK092748 NR_026972 31863778 HLA-F-AS1 HGNC:26645 -HGNC:4964 HLA-G major histocompatibility complex, class I, G protein-coding gene gene with protein product Approved 6p22.1 06p22.1 b2 microglobulin HLA-G histocompatibility antigen, class I, G "Histocompatibility complex|C1-set domain containing" "588|591" 1990-09-10 2007-12-12 2023-01-20 3135 ENSG00000204632 OTTHUMG00000031157 uc003nnw.2 NM_002127 "CCDS87380|CCDS4668" P17693 "MGI:95896|MGI:95904|MGI:95914|MGI:95915|MGI:95917|MGI:95928|MGI:95929|MGI:95931|MGI:95935|MGI:95936|MGI:95956|MGI:1276522|MGI:1276525|MGI:1276527|MGI:2676637|MGI:2687364|MGI:3704134" RGD:3494 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142871 HGNC:4964 "ENST00000360323.11|NM_001384290.1" +HGNC:4964 HLA-G major histocompatibility complex, class I, G protein-coding gene gene with protein product Approved 6p22.1 06p22.1 b2 microglobulin HLA-G histocompatibility antigen, class I, G "Histocompatibility complex|C1-set domain containing" "588|591" 1990-09-10 2007-12-12 2023-01-20 3135 ENSG00000204632 OTTHUMG00000031157 uc003nnw.2 NM_002127 "CCDS4668|CCDS87380" P17693 "MGI:95896|MGI:95904|MGI:95914|MGI:95915|MGI:95917|MGI:95928|MGI:95929|MGI:95931|MGI:95935|MGI:95936|MGI:95956|MGI:1276522|MGI:1276525|MGI:1276527|MGI:2676637|MGI:2687364|MGI:3704134" RGD:3494 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142871 HGNC:4964 "ENST00000360323.11|NM_001384290.1" HGNC:4965 HLA-H major histocompatibility complex, class I, H (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 Histocompatibility complex 588 1991-08-01 2016-10-05 3136 ENSG00000206341 OTTHUMG00000031160 M31944 NR_001434 P01893 "1517564|2294403" "MGI:95896|MGI:95912|MGI:95928|MGI:95937|MGI:3704134" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4965 HGNC:4967 HLA-J major histocompatibility complex, class I, J (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 "CDA12|HLA-59" "HLA-CDA12|D6S203" Histocompatibility complex 588 1992-06-25 2016-10-05 3137 ENSG00000204622 OTTHUMG00000031161 M80470 NR_024240 1602142 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4967 HGNC:4969 HLA-K major histocompatibility complex, class I, K (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 HLA-70 "HLAK|HLA70" Histocompatibility complex 588 1993-11-02 2007-12-12 2015-09-21 3138 ENSG00000230795 OTTHUMG00000031162 M96335 NG_002398 1517564 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ PGOHUM00000301734 HGNC:4969 @@ -11672,27 +11673,27 @@ HGNC:23425 HLA-W major histocompatibility complex, class I, W (pseudogene) pseud HGNC:19385 HLA-X major histocompatibility complex, class I, X (pseudogene) pseudogene pseudogene Approved 6p21.3 06p21.3 Histocompatibility complex 588 2002-10-23 2009-12-01 267016 D88576 NG_009943 8462994 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:19385 HGNC:33913 HLA-Y major histocompatibility complex, class I, Y (pseudogene) pseudogene pseudogene Approved 6p21.33 06p21.33 HLA-BEL/COQ/DEL Histocompatibility complex 588 2007-12-12 2011-07-08 100127173 "Y18651|AY344232|AY436316" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:19394 HLA-Z major histocompatibility complex, class I, Z (pseudogene) pseudogene pseudogene Approved 6p21.32 06p21.32 HLA-Z1 Histocompatibility complex 588 2002-10-23 2016-10-05 267017 ENSG00000235301 OTTHUMG00000031189 NG_009944 8568858 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:19394 -HGNC:4976 HLCS holocarboxylase synthetase protein-coding gene gene with protein product Approved 21q22.13 21q22.13 HCS biotin--protein ligase "holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)|holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)|holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)" 1994-12-15 2016-01-14 2023-01-20 3141 ENSG00000159267 OTTHUMG00000086636 uc002yvs.4 NM_000411 "CCDS13647|CCDS93094" P50747 7842009 MGI:894646 RGD:1565360 609018 122430 "6.3.4.9|6.3.4.10|6.3.4.11|6.3.4.15" HGNC:4976 "ENST00000674895.3|NM_001352514.2" HGNC:4976 +HGNC:4976 HLCS holocarboxylase synthetase protein-coding gene gene with protein product Approved 21q22.13 21q22.13 HCS biotin--protein ligase "holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)|holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)|holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)" 1994-12-15 2016-01-14 2023-01-20 3141 ENSG00000159267 OTTHUMG00000086636 uc002yvs.4 NM_000411 "CCDS93094|CCDS13647" P50747 7842009 MGI:894646 RGD:1565360 609018 122430 "6.3.4.9|6.3.4.10|6.3.4.11|6.3.4.15" HGNC:4976 "ENST00000674895.3|NM_001352514.2" HGNC:4976 HGNC:55850 HLCS-AS1 HLCS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 Antisense RNAs 1987 2021-09-01 2021-09-01 122455337 ENSG00000224790 XR_007067858 HGNC:41343 HLCS-IT1 HLCS intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 HLCS intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874294 ENSG00000237646 OTTHUMG00000086640 uc061zyy.1 HLCS-IT1 -HGNC:4977 HLF HLF transcription factor, PAR bZIP family member protein-coding gene gene with protein product Approved 17q22 17q22 MGC33822 "hepatic leukemia factor|PAR bZIP transcription factor|HLF, PAR bZIP transcription factor" PAR bZIP family 1248 1992-02-14 2019-01-25 2023-01-20 3131 ENSG00000108924 OTTHUMG00000177840 uc002iug.2 NM_002126 "CCDS11585|CCDS82164" Q16534 1386162 MGI:96108 RGD:1582828 HLF 142385 159705 HGNC:4977 "ENST00000226067.10|NM_002126.5" +HGNC:4977 HLF HLF transcription factor, PAR bZIP family member protein-coding gene gene with protein product Approved 17q22 17q22 MGC33822 "hepatic leukemia factor|PAR bZIP transcription factor|HLF, PAR bZIP transcription factor" PAR bZIP family 1248 1992-02-14 2019-01-25 2023-01-20 3131 ENSG00000108924 OTTHUMG00000177840 uc002iug.2 NM_002126 "CCDS82164|CCDS11585" Q16534 1386162 MGI:96108 RGD:1582828 HLF 142385 159705 HGNC:4977 "ENST00000226067.10|NM_002126.5" HGNC:41922 HLFP1 HLF pseudogene 1 pseudogene pseudogene Approved 6q23.2 06q23.2 hepatic leukemia factor pseudogene 1 2011-05-19 2019-01-25 2019-01-25 100873813 ENSG00000218194 OTTHUMG00000015590 NG_032376 HGNC:41922 HGNC:11099 HLTF helicase like transcription factor protein-coding gene gene with protein product Approved 3q24 03q24 "HIP116A|HLTF1|RNF80" "SNF2L3|SMARCA3" SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 Ring finger proteins 58 1994-11-08 2006-11-09 2016-06-07 2023-01-20 6596 ENSG00000071794 OTTHUMG00000159534 uc003ewr.2 L34673 NM_001318934 "CCDS33875|CCDS82856" Q14527 7558014 MGI:1196437 RGD:1309031 603257 HGNC:11099 "ENST00000310053.10|NM_003071.4" HGNC:40554 HLTF-AS1 HLTF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q24 03q24 HLTF antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-06-25 100873945 ENSG00000239718 OTTHUMG00000159531 uc031sbw.1 NR_046648 HLTF-AS1 HGNC:40554 HGNC:4978 HLX H2.0 like homeobox protein-coding gene gene with protein product Approved 1q41 01q41 HB24 HLX1 "H2.0 (Drosophila)-like homeo box 1|H2.0-like homeobox 1 (Drosophila)|H2.0-like homeobox 1|H2.0-like homeobox" NKL subclass homeoboxes and pseudogenes 519 1992-04-02 2007-07-26 2016-04-06 2023-01-20 3142 ENSG00000136630 OTTHUMG00000037352 uc001hmv.5 BC033808 NM_021958 CCDS1527 Q14774 "1676597|7806220" MGI:96109 RGD:1311961 142995 8532 HGNC:4978 "ENST00000366903.8|NM_021958.4" HGNC:42509 HLX-AS1 HLX antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2011-08-03 2014-01-17 2014-01-17 2014-11-19 100873924 ENSG00000257551 OTTHUMG00000170038 DA373928 NR_046901 HLX-AS1 HGNC:42509 -HGNC:16435 HM13 histocompatibility minor 13 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "H13|dJ324O17.1|SPP|PSL3|IMP1|IMPAS|PSENL3|SPPL1" "signal peptide peptidase beta|presenilin-like protein 3|intramembrane protease|signal peptide peptidase like 1" Peptidase family A22 2099 2001-09-17 2016-06-21 2023-03-15 81502 ENSG00000101294 OTTHUMG00000032175 uc002wwc.5 AL110115 NM_178580 "CCDS13182|CCDS13183|CCDS42861" Q8TCT9 "12077416|14704149" MGI:95886 RGD:1308946 LRG_1106|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1106.xml 607106 A22.003 3.4.23.- HGNC:16435 "ENST00000398174.9|NM_178581.3" +HGNC:16435 HM13 histocompatibility minor 13 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "H13|dJ324O17.1|SPP|PSL3|IMP1|IMPAS|PSENL3|SPPL1" "signal peptide peptidase beta|presenilin-like protein 3|intramembrane protease|signal peptide peptidase like 1" Peptidase family A22 2099 2001-09-17 2016-06-21 2023-03-15 81502 ENSG00000101294 OTTHUMG00000032175 uc002wwc.5 AL110115 NM_178580 "CCDS42861|CCDS13183|CCDS13182" Q8TCT9 "12077416|14704149" MGI:95886 RGD:1308946 LRG_1106|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1106.xml 607106 A22.003 3.4.23.- HGNC:16435 "ENST00000398174.9|NM_178581.3" HGNC:41940 HM13-AS1 HM13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 HM13 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100874042 ENSG00000230613 OTTHUMG00000032176 uc031rsr.1 NR_046853 HM13-AS1 HGNC:41940 HGNC:41424 HM13-IT1 HM13 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 HM13 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 106480432 ENSG00000235313 OTTHUMG00000046194 uc061wce.1 HM13-IT1 -HGNC:26137 HMBOX1 homeobox containing 1 protein-coding gene gene with protein product Approved 8p21.1-p12 08p21.1-p12 "HNF1LA|PBHNF|FLJ21616|HOT1" homeobox telomere-binding protein 1 HNF class homeoboxes 524 2006-02-24 2023-01-20 79618 ENSG00000147421 OTTHUMG00000172138 uc003xhe.4 AY522342 NM_024567 "CCDS6071|CCDS83273|CCDS83274" Q6NT76 16825764 MGI:2445066 RGD:1306787 618610 8376 HGNC:26137 "ENST00000287701.15|NM_001135726.3" +HGNC:26137 HMBOX1 homeobox containing 1 protein-coding gene gene with protein product Approved 8p21.1-p12 08p21.1-p12 "HNF1LA|PBHNF|FLJ21616|HOT1" homeobox telomere-binding protein 1 HNF class homeoboxes 524 2006-02-24 2023-01-20 79618 ENSG00000147421 OTTHUMG00000172138 uc003xhe.4 AY522342 NM_024567 "CCDS83274|CCDS83273|CCDS6071" Q6NT76 16825764 MGI:2445066 RGD:1306787 618610 8376 HGNC:26137 "ENST00000287701.15|NM_001135726.3" HGNC:43632 HMBOX1-IT1 HMBOX1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 8p12 08p12 HMBOX1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-12-06 2015-02-25 2015-02-25 106481795 ENSG00000259196 OTTHUMG00000132209 uc064lqf.1 HMBOX1-IT1 -HGNC:4982 HMBS hydroxymethylbilane synthase protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "PBGD|UPS|PORC" "uroporphyrinogen I synthase|porphobilinogen deaminase|porphyria, acute; Chester type" 1986-01-01 2023-01-20 3145 ENSG00000256269 OTTHUMG00000168295 uc001puz.2 X04808 NM_000190 "CCDS58186|CCDS8409|CCDS58187|CCDS41726" P08397 "8432552|17298217" MGI:96112 RGD:2801 LRG_1076|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1076.xml 609806 122438 2.5.1.61 HGNC:4982 "ENST00000652429.1|NM_000190.4" HGNC:4982 +HGNC:4982 HMBS hydroxymethylbilane synthase protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "PBGD|UPS|PORC" "uroporphyrinogen I synthase|porphobilinogen deaminase|porphyria, acute; Chester type" 1986-01-01 2023-01-20 3145 ENSG00000256269 OTTHUMG00000168295 uc001puz.2 X04808 NM_000190 "CCDS8409|CCDS58187|CCDS41726|CCDS58186" P08397 "8432552|17298217" MGI:96112 RGD:2801 LRG_1076|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1076.xml 609806 122438 2.5.1.61 HGNC:4982 "ENST00000652429.1|NM_000190.4" HGNC:4982 HGNC:24446 HMCES 5-hydroxymethylcytosine binding, ES cell specific protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "DC12|SRAPD1" "SOS response associated peptidase domain containing 1|embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein" C3orf37 "chromosome 3 open reading frame 37|5-hydroxymethylcytosine (hmC) binding, ES cell-specific" 2006-01-02 2013-08-30 2016-05-23 2023-01-20 56941 ENSG00000183624 OTTHUMG00000159452 AF201934 NM_020187 "CCDS33852|CCDS87134" Q96FZ2 "23434322|23945014" MGI:1914053 RGD:1559800 618288 HGNC:24446 "ENST00000383463.9|NM_020187.3" HGNC:19194 HMCN1 hemicentin 1 protein-coding gene gene with protein product Approved 1q25.3-q31.1 01q25.3-q31.1 "FBLN6|FIBL6|FIBL-6" fibulin 6 ARMD1 age-related macular degeneration 1 (senile macular degeneration) "Fibulins|I-set domain containing" "556|593" 2005-06-03 2023-01-20 83872 ENSG00000143341 OTTHUMG00000059337 uc001grq.2 AF156100 NM_031935 CCDS30956 Q96RW7 11222143 MGI:2685047 RGD:1564772 608548 122442 HGNC:19194 "ENST00000271588.9|NM_031935.3" HGNC:19194 HGNC:21293 HMCN2 hemicentin 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "DKFZp434P0216|FLJ23816" "Fibulins|I-set domain containing" "556|593" 2005-06-03 2023-01-20 256158 ENSG00000148357 OTTHUMG00000140096 uc064wnb.1 AK074396 NM_001291815 CCDS94512 Q8NDA2 MGI:2677838 RGD:1585467 HGNC:21293 "ENST00000683500.2|NM_001291815.2" HGNC:5001 HMG20A high mobility group 20A protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "HMGX1|FLJ10739|HMGXB1" HMG box domain containing 1 high-mobility group 20A Non-canonical high mobility group 512 1999-06-11 2011-04-05 2023-01-20 10363 ENSG00000140382 OTTHUMG00000143729 uc002bcs.4 AF146222 NM_018200 CCDS10295 Q9NP66 10773667 MGI:1914117 RGD:1564760 605534 HGNC:5001 "ENST00000336216.9|NM_001304504.2" HGNC:5002 HMG20B high mobility group 20B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SOXL|HMGX2|BRAF35|SMARCE1r|BRAF25|HMGXB2" HMG box domain containing 2 high-mobility group 20B Non-canonical high mobility group 512 1999-06-11 2011-04-05 2023-01-20 10362 ENSG00000064961 OTTHUMG00000150437 uc002lya.4 BC003505 NM_006339 CCDS45919 Q9P0W2 10773667 MGI:1341190 RGD:1309235 605535 HGNC:5002 "ENST00000333651.11|NM_006339.3" -HGNC:5010 HMGA1 high mobility group AT-hook 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 HMGIY high-mobility group (nonhistone chromosomal) protein isoforms I and Y "Canonical high mobility group|MicroRNA protein coding host genes" "511|1691" 1993-12-15 2002-07-26 2002-07-25 2023-01-20 3159 ENSG00000137309 OTTHUMG00000014539 uc003oit.4 AF176039 NM_145899 "CCDS4788|CCDS93895|CCDS4789" P17096 "8414980|11406267" MGI:96160 RGD:628699 HMGA1 600701 HGNC:5010 "ENST00000311487.9|NM_145899.3" HGNC:5010 +HGNC:5010 HMGA1 high mobility group AT-hook 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 HMGIY high-mobility group (nonhistone chromosomal) protein isoforms I and Y "Canonical high mobility group|MicroRNA protein coding host genes" "511|1691" 1993-12-15 2002-07-26 2002-07-25 2023-01-20 3159 ENSG00000137309 OTTHUMG00000014539 uc003oit.4 AF176039 NM_145899 "CCDS4788|CCDS4789|CCDS93895" P17096 "8414980|11406267" MGI:96160 RGD:628699 HMGA1 600701 HGNC:5010 "ENST00000311487.9|NM_145899.3" HGNC:5010 HGNC:13321 HMGA1P1 high mobility group AT-hook 1 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 HMGIYL1 HMGA1L1 high mobility group AT-hook 1-like 1 2003-11-26 2010-10-14 2010-10-14 2011-07-01 203477 ENSG00000236683 OTTHUMG00000021295 AF116914 NG_002324 "11672774|12727900" PGOHUM00000241680 HGNC:13321 HGNC:13322 HMGA1P2 high mobility group AT-hook 1 pseudogene 2 pseudogene pseudogene Approved 4q13.3 04q13.3 HMGIYL2 HMGA1L2 high mobility group AT-hook 1-like 2 2003-11-26 2010-10-14 2010-10-14 2011-07-01 171559 ENSG00000248641 OTTHUMG00000160837 AF236857 NG_001569 "11672774|12727900" PGOHUM00000245962 HGNC:13322 HGNC:13323 HMGA1P3 high mobility group AT-hook 1 pseudogene 3 pseudogene pseudogene Approved 12q24.11 12q24.11 HMGIYL3 HMGA1L3 high mobility group AT-hook 1-like 3 2003-11-26 2010-10-14 2010-10-14 2017-10-26 144712 ENSG00000258011 OTTHUMG00000169523 BK000551 NG_002323 "11672774|12727900" PGOHUM00000291463 HGNC:13323 @@ -11701,7 +11702,7 @@ HGNC:19120 HMGA1P5 high mobility group AT-hook 1 pseudogene 5 pseudogene pseudog HGNC:19121 HMGA1P6 high mobility group AT-hook 1 pseudogene 6 pseudogene pseudogene Approved 13q12.12 13q12.12 HMGA1L6 high mobility group AT-hook 1-like 6 2003-11-26 2010-10-14 2010-10-14 2020-04-20 100130029 ENSG00000233440 OTTHUMG00000016558 NG_027901 12727900 PGOHUM00000248528 HGNC:19121 HGNC:19122 HMGA1P7 high mobility group AT-hook 1 pseudogene 7 pseudogene pseudogene Approved 6q23.2 06q23.2 HMGA1L7 high mobility group AT-hook 1-like 7 2003-11-26 2010-10-14 2010-10-14 2014-11-19 387065 ENSG00000216753 OTTHUMG00000015610 NR_037938 12727900 PGOHUM00000243380 HGNC:19122 HGNC:39183 HMGA1P8 high mobility group AT-hook 1 pseudogene 8 pseudogene pseudogene Approved 2p13.1 02p13.1 HMGA1-p 2010-11-17 2016-01-29 2017-12-06 100130009 ENSG00000233155 OTTHUMG00000152827 NG_032791 "12727900|20975707" HGNC:39183 -HGNC:5009 HMGA2 high mobility group AT-hook 2 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "BABL|LIPO" HMGIC high-mobility group (nonhistone chromosomal) protein isoform I-C Canonical high mobility group 511 1998-10-23 2002-07-26 2002-07-25 2023-01-20 8091 ENSG00000149948 OTTHUMG00000168936 uc001ssx.4 U28754 NM_003483 "CCDS73492|CCDS73491|CCDS81709|CCDS44936|CCDS31854" P52926 "8824803|9003504" MGI:101761 RGD:620617 HMGA2 600698 248487 HGNC:5009 "ENST00000403681.7|NM_003483.6" HGNC:5009 +HGNC:5009 HMGA2 high mobility group AT-hook 2 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "BABL|LIPO" HMGIC high-mobility group (nonhistone chromosomal) protein isoform I-C Canonical high mobility group 511 1998-10-23 2002-07-26 2002-07-25 2023-01-20 8091 ENSG00000149948 OTTHUMG00000168936 uc001ssx.4 U28754 NM_003483 "CCDS81709|CCDS73491|CCDS73492|CCDS31854|CCDS44936" P52926 "8824803|9003504" MGI:101761 RGD:620617 HMGA2 600698 248487 HGNC:5009 "ENST00000403681.7|NM_003483.6" HGNC:5009 HGNC:53973 HMGA2-AS1 HMGA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q14.3 12q14.3 RP11-366L20.2 Antisense RNAs 1987 2018-10-10 2018-10-10 100129940 ENSG00000197301 OTTHUMG00000168956 NR_120478 HGNC:53973 HGNC:4983 HMGB1 high mobility group box 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "HMG3|SBP-1|DKFZp686A04236" "Sulfoglucuronyl carbohydrate binding protein|Amphoterin|high mobility group protein 1" HMG1 "high-mobility group (nonhistone chromosomal) protein 1|high-mobility group box 1" Canonical high mobility group 511 1993-12-13 2002-08-16 2011-04-05 2023-01-20 3146 ENSG00000189403 OTTHUMG00000016670 uc058wdx.1 D63874 NM_002128 "CCDS9335|CCDS86347" P09429 "8661151|11279268" MGI:96113 RGD:2802 163905 HGNC:4983 "ENST00000341423.10|NM_002128.7" HGNC:4993 HMGB1P1 high mobility group box 1 pseudogene 1 pseudogene pseudogene Approved 20q13.31 20q13.31 HMG1L7 "HMG1L1|HMGB1L1" "high-mobility group (nonhistone chromosomal) protein 1-like 1|high-mobility group box 1-like 1|high-mobility group box 1 pseudogene 1" 1999-06-11 2010-10-15 2011-04-05 2023-03-15 10357 ENSG00000124097 OTTHUMG00000032823 AF076674 NG_016433 B2RPK0 9925949 PGOHUM00000297026 HGNC:4993 @@ -11792,9 +11793,9 @@ HGNC:39335 HMGB3P32 high mobility group box 3 pseudogene 32 pseudogene pseudogen HGNC:24954 HMGB4 high mobility group box 4 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 FLJ40388 high-mobility group box 4 Canonical high mobility group 511 2005-09-30 2011-04-05 2023-01-20 127540 ENSG00000176256 OTTHUMG00000013143 uc001bxp.3 NM_145205 CCDS30668 Q8WW32 MGI:1916567 RGD:1596426 617285 HGNC:24954 "ENST00000681531.1|NM_001379301.1" HGNC:5005 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase protein-coding gene gene with protein product Approved 1p36.11 01p36.11 HL "hydroxymethylglutaricaciduria|hydroxymethylglutaryl-CoA lyase" "3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase|3-hydroxymethyl-3-methylglutaryl-CoA lyase" 1993-12-13 2018-05-29 2023-01-20 3155 ENSG00000117305 OTTHUMG00000002963 uc001bib.4 BC010570 NM_000191 "CCDS243|CCDS53279" P35914 "8102917|8978493" MGI:96158 RGD:620554 613898 122447 4.1.3.4 HGNC:5005 "ENST00000374490.8|NM_000191.3" HGNC:5005 HGNC:21359 HMGCLL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "DKFZP434G1411|bA418P12.1" 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1 2003-06-20 2016-06-10 2023-01-20 54511 ENSG00000146151 OTTHUMG00000014902 uc003pco.4 AK055075 NM_019036 "CCDS75473|CCDS43474|CCDS43475|CCDS75472" Q8TB92 "8619474|9110174" MGI:2446108 RGD:1565090 619050 HGNC:21359 "ENST00000274901.9|NM_001042406.2" -HGNC:5006 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "hydroxymethylglutaryl-CoA reductase|3-hydroxy-3-methylglutaryl CoA reductase (NADPH)" 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 2001-06-22 2010-04-30 2023-01-20 3156 ENSG00000113161 OTTHUMG00000102069 uc003kdp.4 NM_000859 "CCDS4027|CCDS47234" P04035 MGI:96159 RGD:2803 142910 objectId:639 "1.1.1.88|1.1.1.34" HGNC:5006 "ENST00000287936.9|NM_000859.3" +HGNC:5006 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "hydroxymethylglutaryl-CoA reductase|3-hydroxy-3-methylglutaryl CoA reductase (NADPH)" 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 2001-06-22 2010-04-30 2023-01-20 3156 ENSG00000113161 OTTHUMG00000102069 uc003kdp.4 NM_000859 "CCDS47234|CCDS4027" P04035 MGI:96159 RGD:2803 142910 objectId:639 "1.1.1.88|1.1.1.34" HGNC:5006 "ENST00000287936.9|NM_000859.3" HGNC:5007 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 protein-coding gene gene with protein product Approved 5p12 05p12 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase HMGCS "3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)|3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)" 2001-06-22 2015-11-26 2023-01-20 3157 ENSG00000112972 OTTHUMG00000162231 uc003jnq.6 NM_001098272 CCDS34154 Q01581 MGI:107592 RGD:70970 142940 objectId:638 2.3.3.10 HGNC:5007 "ENST00000325110.11|NM_001098272.3" -HGNC:5008 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 protein-coding gene gene with protein product Approved 1p12 01p12 "3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)|3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)" 1994-05-17 2016-01-21 2023-01-20 3158 ENSG00000134240 OTTHUMG00000012101 uc001eid.4 BC044217 NM_005518 "CCDS905|CCDS53353" P54868 "7851882|7893153" MGI:101939 RGD:2804 LRG_447|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_447.xml 600234 122453 objectId:2432 2.3.3.10 HGNC:5008 "ENST00000369406.8|NM_005518.4" HGNC:5008 +HGNC:5008 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 protein-coding gene gene with protein product Approved 1p12 01p12 "3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)|3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)" 1994-05-17 2016-01-21 2023-01-20 3158 ENSG00000134240 OTTHUMG00000012101 uc001eid.4 BC044217 NM_005518 "CCDS53353|CCDS905" P54868 "7851882|7893153" MGI:101939 RGD:2804 LRG_447|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_447.xml 600234 122453 objectId:2432 2.3.3.10 HGNC:5008 "ENST00000369406.8|NM_005518.4" HGNC:5008 HGNC:4984 HMGN1 high mobility group nucleosome binding domain 1 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "FLJ27265|FLJ31471|MGC104230|MGC117425" "high-mobility group nucleosome binding 1|nonhistone chromosomal protein HMG-14" HMG14 "high-mobility group (nonhistone chromosomal) protein 14|high-mobility group nucleosome binding domain 1" Canonical high mobility group 511 1988-07-19 2002-08-16 2011-04-05 2023-01-20 3150 ENSG00000205581 OTTHUMG00000066178 uc002yxo.4 NM_004965 CCDS33559 P05114 "3782107|2563381" MGI:96120 RGD:1307761 163920 HGNC:4984 "ENST00000380749.10|NM_004965.7" HGNC:20015 HMGN1P1 high mobility group nucleosome binding domain 1 pseudogene 1 pseudogene pseudogene Approved 14q22.3 14q22.3 HMGN1L1 "high-mobility group nucleosome binding domain 1-like 1|high-mobility group nucleosome binding domain 1 pseudogene 1" 2003-01-13 2010-11-23 2011-04-05 2020-04-07 319131 ENSG00000259318 OTTHUMG00000172130 NG_002509 12727900 PGOHUM00000247808 HGNC:20015 HGNC:4985 HMGN1P2 high mobility group nucleosome binding domain 1 pseudogene 2 pseudogene pseudogene Approved 21q22.11 21q22.11 "HMG14P|HMGN1L2" "high-mobility group (nonhistone chromosomal) protein 14 pseudogene|high-mobility group nucleosome binding domain 1-like 2|high-mobility group nucleosome binding domain 1 pseudogene 2" 2000-05-23 2010-11-23 2011-04-05 2011-09-21 54048 ENSG00000229046 OTTHUMG00000084901 NG_000921 12727900 PGOHUM00000239162 HGNC:4985 @@ -11883,7 +11884,7 @@ HGNC:39416 HMGN2P45 high mobility group nucleosomal binding domain 2 pseudogene HGNC:26817 HMGN2P46 high mobility group nucleosomal binding domain 2 pseudogene 46 pseudogene pseudogene Approved 15q21.1 15q21.1 "FLJ39426|D-PCa-2" C15orf21 "chromosome 15 open reading frame 21|high-mobility group nucleosomal binding domain 2 pseudogene 46" 2004-02-23 2010-12-07 2011-04-05 2023-03-15 283651 ENSG00000179362 OTTHUMG00000153087 AK096745 NR_022014 Q86SG4 "15027122|12727900|24043589" 611314 HGNC:26817 HGNC:44422 HMGN2P47 high mobility group nucleosomal binding domain 2 pseudogene 47 pseudogene pseudogene Approved 15q22.33 15q22.33 2012-10-08 2016-10-06 106480791 ENSG00000259246 OTTHUMG00000172244 NG_044102 HGNC:44422 HGNC:55157 HMGN2P48 high mobility group nucleosomal binding domain 2 pseudogene 48 pseudogene pseudogene Approved Xq28 Xq28 2020-07-16 2020-11-11 100129956 ENSG00000229979 NG_029009 -HGNC:12312 HMGN3 high mobility group nucleosomal binding domain 3 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 TRIP7 thyroid hormone receptor interactor 7 Canonical high mobility group 511 1999-03-19 2002-07-26 2002-07-25 2023-01-20 9324 ENSG00000118418 OTTHUMG00000015073 uc003pit.4 L40357 NM_004242 "CCDS4988|CCDS93952|CCDS75485|CCDS4989" Q15651 "7776974|11356838" MGI:2138069 RGD:1359106 604502 HGNC:12312 +HGNC:12312 HMGN3 high mobility group nucleosomal binding domain 3 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 TRIP7 thyroid hormone receptor interactor 7 Canonical high mobility group 511 1999-03-19 2002-07-26 2002-07-25 2023-01-20 9324 ENSG00000118418 OTTHUMG00000015073 uc003pit.4 L40357 NM_004242 "CCDS4989|CCDS93952|CCDS4988|CCDS75485" Q15651 "7776974|11356838" MGI:2138069 RGD:1359106 604502 HGNC:12312 HGNC:48984 HMGN3-AS1 HMGN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q14.1 06q14.1 Antisense RNAs 1987 2013-07-24 2013-07-24 100288198 ENSG00000270362 OTTHUMG00000185118 NR_040671 HMGN3-AS1 HGNC:48984 HGNC:39206 HMGN3P1 high mobility group nucleosomal binding domain 3 pseudogene 1 pseudogene pseudogene Approved 1q21.3 01q21.3 2010-11-23 2011-09-21 100289191 ENSG00000183586 OTTHUMG00000012385 NG_028929 12727900 PGOHUM00000245004 HGNC:39206 HGNC:4989 HMGN4 high mobility group nucleosomal binding domain 4 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 NHC HMG17L3 high-mobility group (nonhistone chromosomal) protein 17-like 3 Canonical high mobility group 511 2000-03-06 2002-07-26 2002-07-25 2023-01-20 10473 ENSG00000182952 OTTHUMG00000014458 uc003nig.4 U90549 NM_006353 CCDS4615 O00479 "9149941|11410162" RGD:2323648 HGNC:4989 "ENST00000377575.3|NM_006353.3" @@ -11891,22 +11892,22 @@ HGNC:8013 HMGN5 high mobility group nucleosome binding domain 5 protein-coding g HGNC:28982 HMGXB3 HMG-box containing 3 protein-coding gene gene with protein product Approved 5q32 05q32 "SMF|KIAA0194" HMGX3 HMG box domain containing 3 Non-canonical high mobility group 512 2008-11-20 2009-01-05 2016-01-26 2023-01-20 22993 ENSG00000113716 OTTHUMG00000163493 uc003lrk.5 D83778 NM_014983 CCDS54935 Q12766 8724849 MGI:2441817 RGD:1560009 619800 HGNC:28982 "ENST00000502717.6|NM_014983.3" HGNC:28982 HGNC:5003 HMGXB4 HMG-box containing 4 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "THC211630|P53N" HMG2L1 "high-mobility group protein 2-like 1|HMG box domain containing 4" Non-canonical high mobility group 512 1999-01-07 2009-01-05 2016-01-26 2023-03-15 10042 ENSG00000100281 OTTHUMG00000150439 uc003anl.4 AJ010069 NM_005487 CCDS33641 Q9UGU5 "10329004|10591208|20511232" MGI:1918073 RGD:1305783 604702 HGNC:5003 "ENST00000216106.6|NM_001003681.3" HGNC:29677 HMHB1 histocompatibility minor HB-1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "HB-1|HB-1Y" Minor histocompatibility antigens 870 2006-07-20 2016-06-21 2023-01-20 57824 ENSG00000158497 OTTHUMG00000163173 uc003lnj.5 AF103884 NM_021182 CCDS43376 O97980 9892612 609961 HGNC:29677 "ENST00000289448.4|NM_021182.3" -HGNC:5012 HMMR hyaluronan mediated motility receptor protein-coding gene gene with protein product Approved 5q34 05q34 "RHAMM|CD168" "hyaluronan-mediated motility receptor (RHAMM)|hyaluronan-mediated motility receptor" CD molecules 471 1995-11-14 2016-01-20 2023-01-20 3161 ENSG00000072571 OTTHUMG00000130381 uc003lzh.5 U29343 NM_012484 "CCDS47335|CCDS4363|CCDS47334|CCDS4362" O75330 MGI:104667 RGD:2805 600936 CD168 HGNC:5012 "ENST00000393915.9|NM_001142556.2" +HGNC:5012 HMMR hyaluronan mediated motility receptor protein-coding gene gene with protein product Approved 5q34 05q34 "RHAMM|CD168" "hyaluronan-mediated motility receptor (RHAMM)|hyaluronan-mediated motility receptor" CD molecules 471 1995-11-14 2016-01-20 2023-01-20 3161 ENSG00000072571 OTTHUMG00000130381 uc003lzh.5 U29343 NM_012484 "CCDS47335|CCDS47334|CCDS4362|CCDS4363" O75330 MGI:104667 RGD:2805 600936 CD168 HGNC:5012 "ENST00000393915.9|NM_001142556.2" HGNC:49149 HMMR-AS1 HMMR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Antisense RNAs 1987 2014-03-26 2018-06-20 101927813 ENSG00000251018 OTTHUMG00000163557 BU852496 NR_109892 "27920576|29574252" HMMR-AS1 HGNC:49149 HGNC:5013 HMOX1 heme oxygenase 1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "bK286B10|HO-1" heme oxygenase (decycling) 1 1992-10-15 2015-03-20 2023-01-20 3162 ENSG00000100292 OTTHUMG00000150960 uc003ant.3 NM_002133 CCDS13914 P09601 10591208 MGI:96163 RGD:2806 141250 470460 objectId:1441 1.14.14.18 HGNC:5013 "ENST00000216117.9|NM_002133.3" HGNC:5013 -HGNC:5014 HMOX2 heme oxygenase 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HO-2 heme oxygenase (decycling) 2 1992-10-15 2015-03-20 2023-01-20 3163 ENSG00000103415 OTTHUMG00000129473 uc010bts.5 NM_001127204 "CCDS10517|CCDS73818|CCDS66931" P30519 1575508 MGI:109373 RGD:67402 141251 objectId:1442 1.14.14.18 HGNC:5014 "ENST00000570646.6|NM_002134.4" +HGNC:5014 HMOX2 heme oxygenase 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HO-2 heme oxygenase (decycling) 2 1992-10-15 2015-03-20 2023-01-20 3163 ENSG00000103415 OTTHUMG00000129473 uc010bts.5 NM_001127204 "CCDS73818|CCDS10517|CCDS66931" P30519 1575508 MGI:109373 RGD:67402 141251 objectId:1442 1.14.14.18 HGNC:5014 "ENST00000570646.6|NM_002134.4" HGNC:23037 HMSD histocompatibility minor serpin domain containing protein-coding gene gene with protein product Approved 18q22.1 18q22.1 "ACC-6|ACC6" C18orf53 histocompatibility (minor) serpin domain containing Minor histocompatibility antigens 870 2006-09-12 2016-04-06 2023-01-20 284293 ENSG00000221887 OTTHUMG00000060593 uc010dqj.4 AC009802 NM_001123366 CCDS42441 "A8MTL9|P0C7T4" 17409267 612086 HGNC:23037 "ENST00000408945.5|NM_001123366.2" HGNC:5017 HMX1 H6 family homeobox 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "H6|NKX5-3" homeo box (H6 family) 1 NKL subclass homeoboxes and pseudogenes 519 1994-12-19 2007-07-09 2023-01-20 3166 ENSG00000215612 OTTHUMG00000160012 uc003izz.2 M99587 NM_018942 "CCDS47018|CCDS77900" Q9NP08 1360670 MGI:107178 RGD:1304928 142992 8442 159708 HGNC:5017 "ENST00000400677.5|NM_018942.3" HGNC:5017 HGNC:5018 HMX2 H6 family homeobox 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 NKX5-2 homeo box (H6 family) 2 NKL subclass homeoboxes and pseudogenes 519 1994-12-19 2007-07-09 2023-01-20 3167 ENSG00000188816 OTTHUMG00000019198 uc001lhc.1 NM_005519 CCDS31305 A2RU54 7647458 MGI:107159 RGD:1565366 600647 8443 HGNC:5018 "ENST00000339992.4|NM_005519.2" HGNC:5019 HMX3 H6 family homeobox 3 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 NKX5-1 homeo box (H6 family) 3 NKL subclass homeoboxes and pseudogenes 519 1995-01-20 2007-07-09 2023-01-20 340784 ENSG00000188620 OTTHUMG00000019199 uc010quc.3 NM_001105574 CCDS41575 A6NHT5 MGI:107160 RGD:1559927 613380 8377 HGNC:5019 "ENST00000357878.7|NM_001105574.2" HGNC:11621 HNF1A HNF1 homeobox A protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "HNF1|LFB1|HNF1α" "MODY3|TCF1" transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor HNF class homeoboxes 524 1990-02-12 2007-08-24 2007-08-24 2023-01-20 6927 ENSG00000135100 OTTHUMG00000151015 uc001tzg.4 M57732 NM_000545 "CCDS9209|CCDS76611" P20823 "1535333|7795649" MGI:98504 RGD:3828 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HNF1A|LRG_522|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_522.xml" HNF1A 142410 8444 158583 HGNC:11621 "ENST00000257555.11|NM_000545.8" HGNC:11621 HGNC:26785 HNF1A-AS1 HNF1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 "FLJ38690|HAS1|HASTER" HNF1A stabilizer transcripts "C12orf27|NCRNA00262" "chromosome 12 open reading frame 27|non-protein coding RNA 262|HNF1A antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2006-01-06 2011-04-28 2012-08-15 2022-12-14 283460 ENSG00000241388 OTTHUMG00000185474 uc058uek.1 AK096009 NR_024345 "24000294|25863539|28943452|36202974" HNF1A-AS1 HGNC:26785 -HGNC:11630 HNF1B HNF1 homeobox B protein-coding gene gene with protein product Approved 17q12 17q12 "LFB3|VHNF1|HNF1beta|MODY5|HNF1β" hepatocyte nuclear factor 1 beta TCF2 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor HNF class homeoboxes 524 1990-05-28 2007-08-24 2007-08-24 2023-01-20 6928 ENSG00000275410 OTTHUMG00000188478 uc002hok.5 BC017714 NM_000458 "CCDS11324|CCDS77007|CCDS58538|CCDS92293" P35680 "1677179|10484768" MGI:98505 RGD:3830 189907 8445 158588 HGNC:11630 "ENST00000617811.5|NM_000458.4" HGNC:11630 -HGNC:5024 HNF4A hepatocyte nuclear factor 4 alpha protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "NR2A1|HNF4" "TCF14|MODY|MODY1" "MicroRNA protein coding host genes|Hepatocyte nuclear factor 4 family" "1691|2085" 1998-04-20 2016-01-18 2023-03-15 3172 ENSG00000101076 OTTHUMG00000032531 uc002xlt.4 X76930 NM_000457 "CCDS46604|CCDS68131|CCDS13331|CCDS46605|CCDS42876|CCDS13330" P41235 "7926813|9048927" MGI:109128 RGD:2810 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HNF4A|LRG_483|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_483.xml" 600281 122455 objectId:608 HGNC:5024 "ENST00000316673.9|NM_175914.5" HGNC:5024 +HGNC:11630 HNF1B HNF1 homeobox B protein-coding gene gene with protein product Approved 17q12 17q12 "LFB3|VHNF1|HNF1beta|MODY5|HNF1β" hepatocyte nuclear factor 1 beta TCF2 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor HNF class homeoboxes 524 1990-05-28 2007-08-24 2007-08-24 2023-01-20 6928 ENSG00000275410 OTTHUMG00000188478 uc002hok.5 BC017714 NM_000458 "CCDS11324|CCDS92293|CCDS77007|CCDS58538" P35680 "1677179|10484768" MGI:98505 RGD:3830 189907 8445 158588 HGNC:11630 "ENST00000617811.5|NM_000458.4" HGNC:11630 +HGNC:5024 HNF4A hepatocyte nuclear factor 4 alpha protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "NR2A1|HNF4" "TCF14|MODY|MODY1" "MicroRNA protein coding host genes|Hepatocyte nuclear factor 4 family" "1691|2085" 1998-04-20 2016-01-18 2023-03-15 3172 ENSG00000101076 OTTHUMG00000032531 uc002xlt.4 X76930 NM_000457 "CCDS46605|CCDS13330|CCDS13331|CCDS68131|CCDS42876|CCDS46604" P41235 "7926813|9048927" MGI:109128 RGD:2810 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HNF4A|LRG_483|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_483.xml" 600281 122455 objectId:608 HGNC:5024 "ENST00000316673.9|NM_175914.5" HGNC:5024 HGNC:49505 HNF4A-AS1 HNF4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 uc002xlx Antisense RNAs 1987 2014-01-02 2014-01-02 101927219 ENSG00000229005 OTTHUMG00000032525 AF143870 NR_109949 24344320 HNF4A-AS1 HGNC:49505 HGNC:5026 HNF4G hepatocyte nuclear factor 4 gamma protein-coding gene gene with protein product Approved 8q21.13 08q21.13 NR2A2 Hepatocyte nuclear factor 4 family 2085 1998-04-20 2016-01-18 2023-01-20 3174 ENSG00000164749 OTTHUMG00000149920 uc003yar.4 NM_004133 "CCDS6220|CCDS83303" Q14541 "8622695|12220494" MGI:1353604 RGD:1310102 605966 objectId:609 HGNC:5026 "ENST00000396423.4|NM_004133.5" HGNC:35417 HNF4GP1 hepatocyte nuclear factor 4 gamma pseudogene 1 pseudogene pseudogene Approved 13q21.1 13q21.1 2008-11-25 2016-01-18 2016-01-18 100130462 ENSG00000228611 OTTHUMG00000016986 NG_016594 18065488 PGOHUM00000248409 HGNC:35417 -HGNC:5028 HNMT histamine N-methyltransferase protein-coding gene gene with protein product Approved 2q22.1 02q22.1 7BS small molecule methyltransferases 2063 1994-04-18 2023-01-20 3176 ENSG00000150540 OTTHUMG00000131751 uc002tvf.4 NM_001024074 "CCDS33296|CCDS33297|CCDS2181" P50135 MGI:2153181 RGD:71049 605238 448453 2.1.1.8 HGNC:5028 "ENST00000280097.5|NM_006895.3" HGNC:5028 +HGNC:5028 HNMT histamine N-methyltransferase protein-coding gene gene with protein product Approved 2q22.1 02q22.1 7BS small molecule methyltransferases 2063 1994-04-18 2023-01-20 3176 ENSG00000150540 OTTHUMG00000131751 uc002tvf.4 NM_001024074 "CCDS33297|CCDS2181|CCDS33296" P50135 MGI:2153181 RGD:71049 605238 448453 2.1.1.8 HGNC:5028 "ENST00000280097.5|NM_006895.3" HGNC:5028 HGNC:5030 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 HNRPA0 "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1999-09-28 2007-08-16 2023-01-20 10949 ENSG00000177733 OTTHUMG00000129156 uc003lbt.4 U23803 NM_006805 CCDS4193 Q13151 7585247 MGI:1924384 RGD:1563684 609409 HGNC:5030 "ENST00000314940.7|NM_006805.4" HGNC:5030 HGNC:5031 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "hnRNP-A1|ALS20" HNRPA1 "RNA binding motif containing|Spliceosomal A complex|Heterogeneous nuclear ribonucleoproteins" "725|1504|1950" 1991-05-21 2007-08-16 2023-01-20 3178 ENSG00000135486 OTTHUMG00000169702 uc001sfm.4 BC009600 NM_031157 "CCDS41793|CCDS44909" P09651 "1733858|23455423" MGI:104820 RGD:69234 164017 331931 HGNC:5031 "ENST00000340913.11|NM_031157.4" HGNC:5031 HGNC:27067 HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 LOC144983 "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2009-01-09 2019-02-18 2023-01-20 144983 ENSG00000139675 OTTHUMG00000016972 uc021rjy.3 NM_001011724 CCDS31980 Q32P51 12477932 "MGI:104820|MGI:3645633" HGNC:27067 "ENST00000357495.5|NM_001389320.1" @@ -11988,7 +11989,7 @@ HGNC:48805 HNRNPA1P75 heterogeneous nuclear ribonucleoprotein A1 pseudogene 75 p HGNC:48806 HNRNPA1P76 heterogeneous nuclear ribonucleoprotein A1 pseudogene 76 pseudogene pseudogene Approved 11p15.4 11p15.4 2013-06-13 2013-06-13 106480675 ENSG00000255141 OTTHUMG00000165494 NG_043196 PGOHUM00000261104 HGNC:48806 HGNC:48807 HNRNPA1P77 heterogeneous nuclear ribonucleoprotein A1 pseudogene 77 pseudogene pseudogene Approved 3p21.31 03p21.31 2013-06-13 2013-06-13 100421378 NG_025692 PGOHUM00000238015 HGNC:48807 HGNC:5033 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 HNRPA2B1 "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1994-08-29 2007-08-16 2023-01-20 3181 ENSG00000122566 OTTHUMG00000023471 uc003sxs.5 D28877 NM_002137 "CCDS5397|CCDS43557" P22626 8029005 MGI:104819 RGD:1310403 HNRNPA2B1 600124 331927 HGNC:5033 "ENST00000618183.5|NM_002137.4" HGNC:5033 -HGNC:24941 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 HNRPA3 "RNA binding motif containing|MicroRNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins" "725|1691|1950" 2004-08-04 2008-04-18 2023-01-20 220988 ENSG00000170144 OTTHUMG00000132529 uc031rqb.2 AF517524 NM_194247 "CCDS82536|CCDS2273|CCDS92902" P51991 "11886857|15776420" MGI:1917171 RGD:727807 605372 HGNC:24941 "ENST00000392524.7|NM_194247.4" +HGNC:24941 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 HNRPA3 "RNA binding motif containing|MicroRNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins" "725|1691|1950" 2004-08-04 2008-04-18 2023-01-20 220988 ENSG00000170144 OTTHUMG00000132529 uc031rqb.2 AF517524 NM_194247 "CCDS2273|CCDS92902|CCDS82536" P51991 "11886857|15776420" MGI:1917171 RGD:727807 605372 HGNC:24941 "ENST00000392524.7|NM_194247.4" HGNC:13729 HNRNPA3P1 heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 "FBRNP|D10S102" "HNRPA3|HNRPA3P1" heterogeneous nuclear ribonucleoprotein A3 2000-12-04 2008-04-18 2004-08-04 2013-05-15 10151 ENSG00000226790 OTTHUMG00000039983 S63912 NR_002726 8101480 PGOHUM00000258471 HGNC:13729 HGNC:16605 HNRNPA3P2 heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 pseudogene pseudogene Approved 20q11.23 20q11.23 dJ977B1.2 "HNRPA3P|HNRPA3P2" heterogeneous nuclear ribonucleoprotein A3 pseudogene 2001-09-17 2008-04-18 2004-08-04 2011-03-29 170526 ENSG00000227688 OTTHUMG00000032385 AL031662 NG_031823 HGNC:16605 HGNC:39772 HNRNPA3P3 heterogeneous nuclear ribonucleoprotein A3 pseudogene 3 pseudogene pseudogene Approved Xq27.1 Xq27.1 2011-03-29 2014-11-19 643689 ENSG00000214653 OTTHUMG00000022541 NG_005582 PGOHUM00000260991 HGNC:39772 @@ -12005,9 +12006,9 @@ HGNC:48759 HNRNPA3P13 heterogeneous nuclear ribonucleoprotein A3 pseudogene 13 p HGNC:48760 HNRNPA3P14 heterogeneous nuclear ribonucleoprotein A3 pseudogene 14 pseudogene pseudogene Approved 1p31.1 01p31.1 2013-06-13 2013-06-13 729817 ENSG00000224494 OTTHUMG00000009838 NG_022787 PGOHUM00000264167 HGNC:48760 HGNC:48761 HNRNPA3P15 heterogeneous nuclear ribonucleoprotein A3 pseudogene 15 pseudogene pseudogene Approved 2q33.1 02q33.1 2013-06-13 2013-06-13 106480234 ENSG00000225636 OTTHUMG00000154408 NG_045093 PGOHUM00000264285 HGNC:48761 HGNC:48762 HNRNPA3P16 heterogeneous nuclear ribonucleoprotein A3 pseudogene 16 pseudogene pseudogene Approved 18q21.2 18q21.2 2013-06-13 2013-06-13 100421451 ENSG00000267233 OTTHUMG00000180040 NG_026331 PGOHUM00000259282 HGNC:48762 -HGNC:5034 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "ABBP1|FLJ40338" HNRPAB "RNA binding motif containing|Spliceosomal A complex|Heterogeneous nuclear ribonucleoproteins" "725|1504|1950" 1994-08-29 2008-04-18 2023-01-20 3182 ENSG00000197451 OTTHUMG00000163452 uc003miu.4 "AK097657|BC036708" NM_004499 "CCDS34310|CCDS34309" Q99729 1717314 MGI:1330294 RGD:69255 602688 HGNC:5034 "ENST00000358344.8|NM_031266.3" +HGNC:5034 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "ABBP1|FLJ40338" HNRPAB "RNA binding motif containing|Spliceosomal A complex|Heterogeneous nuclear ribonucleoproteins" "725|1504|1950" 1994-08-29 2008-04-18 2023-01-20 3182 ENSG00000197451 OTTHUMG00000163452 uc003miu.4 "AK097657|BC036708" NM_004499 "CCDS34309|CCDS34310" Q99729 1717314 MGI:1330294 RGD:69255 602688 HGNC:5034 "ENST00000358344.8|NM_031266.3" HGNC:48744 HNRNPABP1 heterogeneous nuclear ribonucleoprotein A/B pseudogene 1 pseudogene pseudogene Approved 12p13.2 12p13.2 2013-06-12 2013-06-12 390294 ENSG00000255734 OTTHUMG00000168406 NG_021704 PGOHUM00000239668 HGNC:48744 -HGNC:5035 HNRNPC heterogeneous nuclear ribonucleoprotein C protein-coding gene gene with protein product Approved 14q11.2 14q11.2 HNRPC heterogeneous nuclear ribonucleoprotein C (C1/C2) "RNA binding motif containing|Spliceosomal C complex|Spliceosomal P complex|Heterogeneous nuclear ribonucleoproteins" "725|1510|1516|1950" 1997-08-28 2007-08-16 2019-07-03 2023-01-20 3183 ENSG00000092199 OTTHUMG00000170757 uc058zad.1 NM_001077442 "CCDS45079|CCDS41915" P07910 3457372 MGI:107795 RGD:1309982 164020 HGNC:5035 "ENST00000553300.6|NM_004500.4" +HGNC:5035 HNRNPC heterogeneous nuclear ribonucleoprotein C protein-coding gene gene with protein product Approved 14q11.2 14q11.2 HNRPC heterogeneous nuclear ribonucleoprotein C (C1/C2) "RNA binding motif containing|Spliceosomal C complex|Spliceosomal P complex|Heterogeneous nuclear ribonucleoproteins" "725|1510|1516|1950" 1997-08-28 2007-08-16 2019-07-03 2023-01-20 3183 ENSG00000092199 OTTHUMG00000170757 uc058zad.1 NM_001077442 "CCDS41915|CCDS45079" P07910 3457372 MGI:107795 RGD:1309982 164020 HGNC:5035 "ENST00000553300.6|NM_004500.4" HGNC:29295 HNRNPCL1 heterogeneous nuclear ribonucleoprotein C like 1 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 HNRPCL1 RNA binding motif containing 725 2005-05-13 2008-04-18 2019-02-18 2023-01-20 343069 ENSG00000179172 OTTHUMG00000001931 uc057cki.1 BC002696 NM_001013631 CCDS30591 O60812 HGNC:29295 "ENST00000317869.7|NM_001013631.3" HGNC:48813 HNRNPCL2 heterogeneous nuclear ribonucleoprotein C like 2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 HNRNPCP5 heterogeneous nuclear ribonucleoprotein C pseudogene 5 2013-06-13 2014-05-27 2019-02-18 2023-01-20 440563 ENSG00000275774 OTTHUMG00000009503 NM_001136561 CCDS76105 B2RXH8 HGNC:48813 "ENST00000621994.3|NM_001136561.3" HGNC:51235 HNRNPCL3 heterogeneous nuclear ribonucleoprotein C like 3 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 2014-10-08 2019-02-18 2023-01-20 649330 ENSG00000277058 OTTHUMG00000189236 NM_001382358 CCDS72705 B7ZW38 HGNC:51235 "ENST00000617807.3|NM_001382358.1" @@ -12021,7 +12022,7 @@ HGNC:48818 HNRNPCP7 heterogeneous nuclear ribonucleoprotein C pseudogene 7 pseud HGNC:48819 HNRNPCP8 heterogeneous nuclear ribonucleoprotein C pseudogene 8 pseudogene pseudogene Approved 11q14.2 11q14.2 2013-06-13 2013-06-13 100131842 ENSG00000254748 OTTHUMG00000167234 NG_021828 PGOHUM00000261837 HGNC:48819 HGNC:48820 HNRNPCP9 heterogeneous nuclear ribonucleoprotein C pseudogene 9 pseudogene pseudogene Approved 1p31.3 01p31.3 2013-06-13 2013-06-13 100130196 ENSG00000232048 OTTHUMG00000009543 PGOHUM00000261891 HGNC:48820 HGNC:48821 HNRNPCP10 heterogeneous nuclear ribonucleoprotein C pseudogene 10 pseudogene pseudogene Approved Xq27.3 Xq27.3 2013-06-13 2013-06-13 100129229 ENSG00000215054 OTTHUMG00000022590 NG_030279 PGOHUM00000261948 HGNC:48821 -HGNC:5036 HNRNPD heterogeneous nuclear ribonucleoprotein D protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "AUF1|HNRPD" "heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)|AU-rich element RNA binding protein 1, 37kDa" "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1997-10-30 2008-04-18 2015-11-09 2023-01-20 3184 ENSG00000138668 OTTHUMG00000130290 uc003hmm.2 AF026126 NM_031370 "CCDS3590|CCDS3592|CCDS3591|CCDS93554" Q14103 9615222 MGI:101947 RGD:620365 601324 HGNC:5036 "ENST00000313899.12|NM_031370.3" +HGNC:5036 HNRNPD heterogeneous nuclear ribonucleoprotein D protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "AUF1|HNRPD" "heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)|AU-rich element RNA binding protein 1, 37kDa" "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1997-10-30 2008-04-18 2015-11-09 2023-01-20 3184 ENSG00000138668 OTTHUMG00000130290 uc003hmm.2 AF026126 NM_031370 "CCDS3591|CCDS3592|CCDS93554|CCDS3590" Q14103 9615222 MGI:101947 RGD:620365 601324 HGNC:5036 "ENST00000313899.12|NM_031370.3" HGNC:55205 HNRNPD-DT HNRNPD divergent transcript non-coding RNA RNA, long non-coding Approved 4q21.22 04q21.22 Divergent transcripts 1990 2020-08-21 2020-08-21 101928963 ENSG00000272677 NR_183812 HGNC:5037 HNRNPDL heterogeneous nuclear ribonucleoprotein D like protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "JKTBP|laAUF1" "HNRPDL|LGMD1G" limb girdle muscular dystrophy 1G (autosomal dominant) "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1998-09-25 2013-06-12 2015-11-09 2023-01-20 9987 ENSG00000152795 OTTHUMG00000130299 D89092 NM_005463 "CCDS3593|CCDS75153" O14979 "10072754|9524220|24647604" MGI:1355299 RGD:1309950 607137 410515 HGNC:5037 "ENST00000295470.10|NM_031372.4" HGNC:5037 HGNC:48752 HNRNPDLP1 HNRNPDL pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 heterogeneous nuclear ribonucleoprotein D-like pseudogene 1 2013-06-13 2019-02-18 2019-02-18 100128595 ENSG00000226307 OTTHUMG00000021982 NG_022680 PGOHUM00000241897 HGNC:48752 @@ -12033,28 +12034,28 @@ HGNC:5038 HNRNPDP1 heterogeneous nuclear ribonucleoprotein D pseudogene 1 pseudo HGNC:48749 HNRNPDP2 heterogeneous nuclear ribonucleoprotein D pseudogene 2 pseudogene pseudogene Approved 6q12 06q12 heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 2 2013-06-13 2015-11-10 2015-11-10 106481661 ENSG00000217811 OTTHUMG00000014959 NG_046039 PGOHUM00000243232 HGNC:48749 HGNC:5039 HNRNPF heterogeneous nuclear ribonucleoprotein F protein-coding gene gene with protein product Approved 10q11.21 10q11.21 HNRPF "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1997-08-28 2008-04-18 2023-01-20 3185 ENSG00000169813 OTTHUMG00000018029 uc001jat.3 NM_001098204 CCDS7204 P52597 7499401 MGI:2138741 RGD:620366 601037 HGNC:5039 "ENST00000682386.1|NM_001098204.2" HGNC:48812 HNRNPFP1 heterogeneous nuclear ribonucleoprotein F pseudogene 1 pseudogene pseudogene Approved 1p34.2 01p34.2 2013-06-13 2013-06-13 644449 ENSG00000227538 OTTHUMG00000006363 NG_006068 PGOHUM00000244689 HGNC:48812 -HGNC:5041 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 hnRNPH HNRPH1 heterogeneous nuclear ribonucleoprotein H1 (H) "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1997-08-28 2008-04-18 2017-01-12 2023-01-20 3187 ENSG00000169045 OTTHUMG00000130908 uc003mkh.5 BC001348 NM_005520 "CCDS93836|CCDS4446|CCDS87357" P31943 7499401 MGI:1891925 RGD:620840 601035 358708 HGNC:5041 "ENST00000393432.9|NM_001257293.2" +HGNC:5041 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 hnRNPH HNRPH1 heterogeneous nuclear ribonucleoprotein H1 (H) "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1997-08-28 2008-04-18 2017-01-12 2023-01-20 3187 ENSG00000169045 OTTHUMG00000130908 uc003mkh.5 BC001348 NM_005520 "CCDS4446|CCDS87357|CCDS93836" P31943 7499401 MGI:1891925 RGD:620840 601035 358708 HGNC:5041 "ENST00000393432.9|NM_001257293.2" HGNC:48751 HNRNPH1P1 heterogeneous nuclear ribonucleoprotein H1 pseudogene 1 pseudogene pseudogene Approved 6q25.3 06q25.3 2013-06-13 2013-06-13 100132803 ENSG00000220305 OTTHUMG00000015938 NG_008729 PGOHUM00000257147 HGNC:48751 HGNC:48810 HNRNPH1P2 heterogeneous nuclear ribonucleoprotein H1 pseudogene 2 pseudogene pseudogene Approved Xq27.3 Xq27.3 2013-06-13 2013-06-13 100129368 ENSG00000213924 OTTHUMG00000022581 NG_028793 PGOHUM00000241585 HGNC:48810 HGNC:48811 HNRNPH1P3 heterogeneous nuclear ribonucleoprotein H1 pseudogene 3 pseudogene pseudogene Approved 5q11.2 05q11.2 2013-06-13 2013-06-13 402216 ENSG00000248854 OTTHUMG00000162319 NG_021850 PGOHUM00000235226 HGNC:48811 HGNC:5042 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "hnRNPH'|FTP3|HNRPH'" HNRPH2 heterogeneous nuclear ribonucleoprotein H2 (H') "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1997-08-28 2008-04-18 2017-01-12 2023-01-20 3188 ENSG00000126945 OTTHUMG00000022029 uc004ehm.4 U01923 NM_019597 CCDS14485 P55795 7499401 MGI:1201779 RGD:1549784 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HNRNPH2 300610 HGNC:5042 "ENST00000316594.6|NM_019597.5" HGNC:5042 -HGNC:5043 HNRNPH3 heterogeneous nuclear ribonucleoprotein H3 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 2H9 heterogeneous nuclear ribonucleoprotein 2H9 HNRPH3 heterogeneous nuclear ribonucleoprotein H3 (2H9) "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1998-02-11 2008-04-18 2016-02-01 2023-01-20 3189 ENSG00000096746 OTTHUMG00000018349 uc001jnw.5 NM_001322434 "CCDS7279|CCDS7278" P31942 8999868 MGI:1926462 RGD:1310019 602324 HGNC:5043 "ENST00000265866.12|NM_012207.3" +HGNC:5043 HNRNPH3 heterogeneous nuclear ribonucleoprotein H3 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 2H9 heterogeneous nuclear ribonucleoprotein 2H9 HNRPH3 heterogeneous nuclear ribonucleoprotein H3 (2H9) "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1998-02-11 2008-04-18 2016-02-01 2023-01-20 3189 ENSG00000096746 OTTHUMG00000018349 uc001jnw.5 NM_001322434 "CCDS7278|CCDS7279" P31942 8999868 MGI:1926462 RGD:1310019 602324 HGNC:5043 "ENST00000265866.12|NM_012207.3" HGNC:48750 HNRNPH3P1 heterogeneous nuclear ribonucleoprotein H3 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-06-13 2013-06-13 106480233 ENSG00000230247 OTTHUMG00000021904 NG_043755 PGOHUM00000241869 HGNC:48750 -HGNC:5044 HNRNPK heterogeneous nuclear ribonucleoprotein K protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "CSBP|TUNP" transformation upregulated nuclear protein HNRPK "MicroRNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins" "1691|1950" 1994-12-15 2008-04-18 2023-01-20 3190 ENSG00000165119 OTTHUMG00000020107 uc004anl.5 NM_001318186 "CCDS94425|CCDS94426|CCDS6668|CCDS6667" P61978 8107114 MGI:99894 RGD:71058 600712 457585 HGNC:5044 "ENST00000376263.8|NM_031263.4" HGNC:5044 +HGNC:5044 HNRNPK heterogeneous nuclear ribonucleoprotein K protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "CSBP|TUNP" transformation upregulated nuclear protein HNRPK "MicroRNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins" "1691|1950" 1994-12-15 2008-04-18 2023-01-20 3190 ENSG00000165119 OTTHUMG00000020107 uc004anl.5 NM_001318186 "CCDS94426|CCDS6668|CCDS94425|CCDS6667" P61978 8107114 MGI:99894 RGD:71058 600712 457585 HGNC:5044 "ENST00000376263.8|NM_031263.4" HGNC:5044 HGNC:56061 HNRNPK-AS1 HNRNPK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.32 09q21.32 Antisense RNAs 1987 2021-12-10 2021-12-10 123706516 ENSG00000235298 HGNC:42374 HNRNPKP1 heterogeneous nuclear ribonucleoprotein K pseudogene 1 pseudogene pseudogene Approved 5q23.2 05q23.2 2011-07-05 2014-11-19 389322 ENSG00000250859 OTTHUMG00000163051 NG_021862 PGOHUM00000235390 HGNC:42374 HGNC:42375 HNRNPKP2 heterogeneous nuclear ribonucleoprotein K pseudogene 2 pseudogene pseudogene Approved 2q22.1 02q22.1 2011-07-05 2014-11-19 389053 ENSG00000227347 OTTHUMG00000153576 NG_021524 PGOHUM00000240356 HGNC:42375 HGNC:42376 HNRNPKP3 heterogeneous nuclear ribonucleoprotein K pseudogene 3 pseudogene pseudogene Approved 11p12 11p12 2011-07-05 2014-11-19 399881 ENSG00000251557 NR_033868 PGOHUM00000242216 HGNC:42376 HGNC:42377 HNRNPKP4 heterogeneous nuclear ribonucleoprotein K pseudogene 4 pseudogene pseudogene Approved 3q11.2 03q11.2 2011-07-05 2014-11-18 644063 ENSG00000243547 OTTHUMG00000159028 NG_022255 PGOHUM00000238098 HGNC:42377 HGNC:42378 HNRNPKP5 heterogeneous nuclear ribonucleoprotein K pseudogene 5 pseudogene pseudogene Approved 5p15.2 05p15.2 2011-07-05 2014-11-18 100874385 ENSG00000250662 OTTHUMG00000161816 NG_032511 PGOHUM00000235129 HGNC:42378 -HGNC:5045 HNRNPL heterogeneous nuclear ribonucleoprotein L protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HNRPL "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1998-04-22 2007-08-16 2023-01-20 3191 ENSG00000104824 OTTHUMG00000182612 uc060yfy.1 X16135 NM_001005335 "CCDS33016|CCDS33015" P14866 2687284 MGI:104816 RGD:71059 603083 HGNC:5045 "ENST00000221419.10|NM_001533.3" +HGNC:5045 HNRNPL heterogeneous nuclear ribonucleoprotein L protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HNRPL "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1998-04-22 2007-08-16 2023-01-20 3191 ENSG00000104824 OTTHUMG00000182612 uc060yfy.1 X16135 NM_001005335 "CCDS33015|CCDS33016" P14866 2687284 MGI:104816 RGD:71059 603083 HGNC:5045 "ENST00000221419.10|NM_001533.3" HGNC:25127 HNRNPLL heterogeneous nuclear ribonucleoprotein L like protein-coding gene gene with protein product Approved 2p22.1 02p22.1 HNRPLL "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2004-11-30 2013-06-12 2016-01-12 2023-01-20 92906 ENSG00000143889 OTTHUMG00000102075 BC008217 NM_138394 "CCDS1796|CCDS46261" Q8WVV9 18669861 MGI:1919942 RGD:1305861 611208 HGNC:25127 "ENST00000449105.8|NM_138394.4" HGNC:48748 HNRNPLP1 heterogeneous nuclear ribonucleoprotein L pseudogene 1 pseudogene pseudogene Approved 6p24.3 06p24.3 2013-06-12 2013-06-12 442157 ENSG00000233503 OTTHUMG00000014208 NG_022293 PGOHUM00000263832 HGNC:48748 HGNC:48747 HNRNPLP2 heterogeneous nuclear ribonucleoprotein L pseudogene 2 pseudogene pseudogene Approved 15q14 15q14 2013-06-13 2013-06-13 644390 ENSG00000259917 OTTHUMG00000173388 NG_029295 PGOHUM00000258852 HGNC:48747 -HGNC:5046 HNRNPM heterogeneous nuclear ribonucleoprotein M protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HTGR1|HNRNPM4|HNRPM4|CEAR" CEA receptor "NAGR1|HNRPM" "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2000-06-26 2008-04-18 2023-01-20 4670 ENSG00000099783 OTTHUMG00000182383 uc010dwe.4 L03532 NM_001297418 "CCDS12203|CCDS12204" P52272 "8441656|7558047" MGI:1926465 RGD:620369 160994 HGNC:5046 "ENST00000325495.9|NM_005968.5" +HGNC:5046 HNRNPM heterogeneous nuclear ribonucleoprotein M protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HTGR1|HNRNPM4|HNRPM4|CEAR" CEA receptor "NAGR1|HNRPM" "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2000-06-26 2008-04-18 2023-01-20 4670 ENSG00000099783 OTTHUMG00000182383 uc010dwe.4 L03532 NM_001297418 "CCDS12204|CCDS12203" P52272 "8441656|7558047" MGI:1926465 RGD:620369 160994 HGNC:5046 "ENST00000325495.9|NM_005968.5" HGNC:48745 HNRNPMP1 heterogeneous nuclear ribonucleoprotein M pseudogene 1 pseudogene pseudogene Approved 15q15.3 15q15.3 2013-06-12 2013-06-12 645204 ENSG00000259335 OTTHUMG00000171870 NG_022108 PGOHUM00000246772 HGNC:48745 HGNC:48746 HNRNPMP2 heterogeneous nuclear ribonucleoprotein M pseudogene 2 pseudogene pseudogene Approved 19q13.32 19q13.32 2013-06-12 2013-06-12 390948 ENSG00000269576 OTTHUMG00000183435 NG_021765 PGOHUM00000234727 HGNC:48746 -HGNC:5047 HNRNPR heterogeneous nuclear ribonucleoprotein R protein-coding gene gene with protein product Approved 1p36.12 01p36.12 hnRNP-R HNRPR "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1999-06-11 2007-08-16 2023-01-20 10236 ENSG00000125944 OTTHUMG00000003224 uc057dey.1 AF000364 NM_005826 "CCDS44085|CCDS60020|CCDS72727|CCDS72726|CCDS232" O43390 9421497 MGI:1891692 RGD:631348 607201 HGNC:5047 "ENST00000302271.11|NM_005826.5" HGNC:5047 +HGNC:5047 HNRNPR heterogeneous nuclear ribonucleoprotein R protein-coding gene gene with protein product Approved 1p36.12 01p36.12 hnRNP-R HNRPR "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1999-06-11 2007-08-16 2023-01-20 10236 ENSG00000125944 OTTHUMG00000003224 uc057dey.1 AF000364 NM_005826 "CCDS72727|CCDS232|CCDS72726|CCDS60020|CCDS44085" O43390 9421497 MGI:1891692 RGD:631348 607201 HGNC:5047 "ENST00000302271.11|NM_005826.5" HGNC:5047 HGNC:44907 HNRNPRP1 heterogeneous nuclear ribonucleoprotein R pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p12.31 2012-12-18 2012-12-18 100125387 ENSG00000223984 OTTHUMG00000017798 NG_006899 PGOHUM00000251234 HGNC:44907 HGNC:44908 HNRNPRP2 heterogeneous nuclear ribonucleoprotein R pseudogene 2 pseudogene pseudogene Approved 11p14.1 11p14.1 2012-12-18 2012-12-18 100421354 ENSG00000255047 OTTHUMG00000166153 NG_024324 PGOHUM00000242200 HGNC:44908 HGNC:44909 HNRNPRP3 heterogeneous nuclear ribonucleoprotein R pseudogene 3 pseudogene pseudogene Approved 4p14 04p14 2012-12-18 2012-12-18 100421323 NG_025201 PGOHUM00000245880 HGNC:44909 @@ -12065,18 +12066,18 @@ HGNC:49189 HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) other readt HGNC:19931 HNRNPUP1 heterogeneous nuclear ribonucleoprotein U pseudogene 1 pseudogene pseudogene Approved 14q21.2 14q21.2 HNRPUP heterogeneous nuclear ribonucleoprotein U pseudogene 2003-01-13 2013-06-12 2013-06-12 2014-11-18 319134 ENSG00000259051 OTTHUMG00000170706 NG_002512 PGOHUM00000248152 HGNC:19931 HGNC:25061 HOATZ HOATZ cilia and flagella associated protein protein-coding gene gene with protein product Approved 11q23.1 11q23.1 FLJ46266 hypothetical gene supported by BC039505 C11orf88 chromosome 11 open reading frame 88 2008-07-22 2020-05-14 2020-05-14 2023-01-20 399949 ENSG00000183644 OTTHUMG00000166720 uc009yyd.3 "BC039505|AK128145" NM_001100388 "CCDS41712|CCDS41713" Q6PI97 32248064 MGI:1921013 RGD:2323814 HGNC:25061 "ENST00000375618.9|NM_001100388.2" HGNC:25155 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "FLJ37472|DHDPS2|NPL2" "dihydrodipicolinate synthetase homolog 2 (E. coli)|N-acetylneuraminate pyruvate lyase 2 (putative)" "C10orf65|DHDPSL" "chromosome 10 open reading frame 65|dihydrodipicolinate synthase-like, mitochondrial" 2004-05-27 2010-12-19 2010-12-19 2023-01-20 112817 ENSG00000241935 OTTHUMG00000018859 uc001kny.4 BC011916 NM_138413 "CCDS44469|CCDS7467" Q86XE5 20797690 MGI:1914682 RGD:1310475 613597 242313 HGNC:25155 "ENST00000370646.9|NM_138413.4" HGNC:25155 -HGNC:17512 HOMER1 homer scaffold protein 1 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "Ves-1|SYN47|HOMER-1B" "homer homolog 1 (Drosophila)|homer scaffolding protein 1" Homer scaffold proteins 871 2003-01-28 2018-03-01 2023-01-20 9456 ENSG00000152413 OTTHUMG00000134278 uc003kfy.5 BC015502 NM_004272 "CCDS43335|CCDS64188|CCDS64189" Q86YM7 "9808459|9808458" MGI:1347345 RGD:628725 604798 HGNC:17512 "ENST00000334082.11|NM_004272.5" -HGNC:17513 HOMER2 homer scaffold protein 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "CPD|Cupidin|Vesl-2|HOMER-2B|HOMER-2|HOMER-2A|DFNA68" "homer homolog 2 (Drosophila)|homer scaffolding protein 2" Homer scaffold proteins 871 2003-01-28 2018-03-01 2023-03-15 9455 ENSG00000103942 OTTHUMG00000172462 uc002bjg.4 AF093264 NM_004839 "CCDS45336|CCDS45334" Q9NSB8 "9808459|9808458|25816005" MGI:1347354 RGD:620705 604799 445129 HGNC:17513 "ENST00000450735.7|NM_004839.4" HGNC:17513 +HGNC:17512 HOMER1 homer scaffold protein 1 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "Ves-1|SYN47|HOMER-1B" "homer homolog 1 (Drosophila)|homer scaffolding protein 1" Homer scaffold proteins 871 2003-01-28 2018-03-01 2023-01-20 9456 ENSG00000152413 OTTHUMG00000134278 uc003kfy.5 BC015502 NM_004272 "CCDS64188|CCDS64189|CCDS43335" Q86YM7 "9808459|9808458" MGI:1347345 RGD:628725 604798 HGNC:17512 "ENST00000334082.11|NM_004272.5" +HGNC:17513 HOMER2 homer scaffold protein 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "CPD|Cupidin|Vesl-2|HOMER-2B|HOMER-2|HOMER-2A|DFNA68" "homer homolog 2 (Drosophila)|homer scaffolding protein 2" Homer scaffold proteins 871 2003-01-28 2018-03-01 2023-03-15 9455 ENSG00000103942 OTTHUMG00000172462 uc002bjg.4 AF093264 NM_004839 "CCDS45334|CCDS45336" Q9NSB8 "9808459|9808458|25816005" MGI:1347354 RGD:620705 604799 445129 HGNC:17513 "ENST00000450735.7|NM_004839.4" HGNC:17513 HGNC:20336 HOMER2P1 HOMER2 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 "homer homolog 2 pseudogene 1 (Drosophila)|homer scaffolding protein 2 pseudogene 1" 2003-01-24 2018-03-01 2018-03-01 317768 ENSG00000228966 OTTHUMG00000152103 NG_027315 PGOHUM00000247955 HGNC:20336 HGNC:20334 HOMER2P2 HOMER2 pseudogene 2 pseudogene pseudogene Approved 14q32.33 14q32.33 "homer homolog 2 pseudogene 2 (Drosophila)|homer scaffolding protein 2 pseudogene 2" 2003-01-24 2018-03-01 2018-03-01 317769 ENSG00000238275 OTTHUMG00000152092 NG_027314 PGOHUM00000247933 HGNC:20334 -HGNC:17514 HOMER3 homer scaffold protein 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 HOMER-3 "homer homolog 3 (Drosophila)|homer scaffolding protein 3" Homer scaffold proteins 871 2003-01-28 2018-03-01 2023-01-20 9454 ENSG00000051128 OTTHUMG00000182995 uc002nkv.3 Y18894 NM_001145721 "CCDS46023|CCDS12391|CCDS46022" Q9NSC5 "10653696|9808459" MGI:1347359 RGD:620706 604800 HGNC:17514 "ENST00000392351.8|NM_004838.4" +HGNC:17514 HOMER3 homer scaffold protein 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 HOMER-3 "homer homolog 3 (Drosophila)|homer scaffolding protein 3" Homer scaffold proteins 871 2003-01-28 2018-03-01 2023-01-20 9454 ENSG00000051128 OTTHUMG00000182995 uc002nkv.3 Y18894 NM_001145721 "CCDS12391|CCDS46023|CCDS46022" Q9NSC5 "10653696|9808459" MGI:1347359 RGD:620706 604800 HGNC:17514 "ENST00000392351.8|NM_004838.4" HGNC:53775 HOMER3-AS1 HOMER3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 Antisense RNAs 1987 2017-11-03 2017-11-03 102724360 ENSG00000269019 OTTHUMG00000182996 NR_134912 HGNC:53775 HGNC:20164 HOMEZ homeobox and leucine zipper encoding protein-coding gene gene with protein product Approved 14q11.2 14q11.2 KIAA1443 KIAA1443 ZF class homeoboxes and pseudogenes 529 2003-11-21 2007-02-15 2007-02-15 2023-01-20 57594 ENSG00000290292 OTTHUMG00000172122 uc001wja.3 AB037864 NM_020834 CCDS45085 Q8IX15 12925734 MGI:2678023 RGD:628904 608119 8582 HGNC:20164 "ENST00000357460.7|NM_020834.3" HGNC:19884 HOOK1 hook microtubule tethering protein 1 protein-coding gene gene with protein product Approved 1p32.1 01p32.1 HK1 hook homolog 1 (Drosophila) FHF complex 2012 2003-11-25 2016-07-14 2023-01-20 51361 ENSG00000134709 OTTHUMG00000008990 uc001czo.3 AF044923 NM_015888 CCDS612 Q9UJC3 9927460 MGI:1925213 RGD:1309987 607820 HGNC:19884 "ENST00000371208.5|NM_015888.6" HGNC:19885 HOOK2 hook microtubule tethering protein 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 HK2 hook homolog 2 (Drosophila) FHF complex 2012 2003-11-25 2016-07-14 2023-01-20 29911 ENSG00000095066 OTTHUMG00000180372 uc002muz.3 AF044924 NM_013312 "CCDS42508|CCDS42507" Q96ED9 9927460 MGI:2181664 RGD:1310171 607824 HGNC:19885 "ENST00000397668.8|NM_013312.3" HGNC:23576 HOOK3 hook microtubule tethering protein 3 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 HK3 hook homolog 3 (Drosophila) FHF complex 2012 2003-11-25 2016-07-14 2023-01-20 84376 ENSG00000168172 OTTHUMG00000165278 uc003xpr.4 AK090540 NM_032410 CCDS6139 Q86VS8 "9927460|17237231" MGI:2443554 RGD:1560960 HOOK3 607825 HGNC:23576 "ENST00000307602.9|NM_032410.4" HGNC:24961 HOPX HOP homeobox protein-coding gene gene with protein product Approved 4q12 04q12 "LAGY|HOP|OB1|NECC1|SMAP31" homeobox only domain PRD class homeoboxes and pseudogenes 521 2007-08-20 2023-01-20 84525 ENSG00000171476 OTTHUMG00000128768 uc003hcb.3 NM_001145459 "CCDS47062|CCDS54767|CCDS3507" Q9BPY8 12297045 MGI:1916782 RGD:621841 607275 8583 HGNC:24961 "ENST00000420433.6|NM_032495.6" -HGNC:25245 HORMAD1 HORMA domain containing 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "DKFZP434A1315|CT46" cancer/testis antigen 46 2005-01-04 2023-01-20 84072 ENSG00000143452 OTTHUMG00000035005 uc001evk.3 AL136755 NM_032132 "CCDS55633|CCDS967" Q86X24 "11230166|15999985" MGI:1915231 RGD:1564960 609824 HGNC:25245 "ENST00000361824.7|NM_032132.5" HGNC:25245 +HGNC:25245 HORMAD1 HORMA domain containing 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "DKFZP434A1315|CT46" cancer/testis antigen 46 2005-01-04 2023-01-20 84072 ENSG00000143452 OTTHUMG00000035005 uc001evk.3 AL136755 NM_032132 "CCDS967|CCDS55633" Q86X24 "11230166|15999985" MGI:1915231 RGD:1564960 609824 HGNC:25245 "ENST00000361824.7|NM_032132.5" HGNC:25245 HGNC:28383 HORMAD2 HORMA domain containing 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "MGC26710|CT46.2" 2005-01-04 2023-01-20 150280 ENSG00000176635 OTTHUMG00000150881 uc003agy.4 AK098703 NM_152510 CCDS46683 Q8N7B1 23039116 MGI:1923078 RGD:1565447 618842 HGNC:28383 "ENST00000336726.11|NM_152510.4" HGNC:50729 HORMAD2-AS1 HORMAD2 and MTMR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 "MTMR3-AS1|NONHSAG033653" HORMAD2 antisense RNA 1 Antisense RNAs 1987 2014-06-13 2017-06-01 2017-06-01 101929664 ENSG00000227117 OTTHUMG00000151289 NR_110541 25144376 HORMAD2-AS1 HGNC:50729 HGNC:33510 HOTAIR HOX transcript antisense RNA non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 "HOXC-AS4|HOXC11-AS1|NCRNA00072" "HOXC cluster antisense RNA 4 (non-protein coding)|non-protein coding RNA 72" HOX transcript antisense RNA (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2008-06-04 2012-08-15 2022-04-21 100124700 ENSG00000228630 OTTHUMG00000152934 uc009zne.5 DQ926657 NR_003716 "17604720|17604716" MGI:3826586 611400 HOTAIR HOTAIR HGNC:33510 @@ -12105,7 +12106,7 @@ HGNC:40285 HOXB-AS4 HOXB cluster antisense RNA 4 non-coding RNA RNA, long non-co HGNC:5110 HOXB@ homeobox B cluster other region Approved 17q21.32 17q21.32 HOX2@ homeo box B cluster 1986-01-01 2005-12-22 2011-06-01 3210 "1973146|1358459" HGNC:5111 HOXB1 homeobox B1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2I" homeo box B1 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3211 ENSG00000120094 OTTHUMG00000159929 uc002ink.2 NM_002144 CCDS32675 P14653 "1973146|1358459" MGI:96182 RGD:1310298 142968 8639 311103 HGNC:5111 "ENST00000239174.7|NM_002144.4" HGNC:5111 HGNC:5113 HOXB2 homeobox B2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2H" homeo box B2 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3212 ENSG00000173917 OTTHUMG00000159930 uc002inm.5 NM_002145 CCDS11527 P14652 "1973146|1358459" MGI:96183 RGD:2319509 142967 8641 HGNC:5113 "ENST00000330070.6|NM_002145.4" -HGNC:5114 HOXB3 homeobox B3 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2G" homeo box B3 "HOXL subclass homeoboxes|MicroRNA protein coding host genes" "518|1691" 1990-06-15 2005-12-22 2023-01-20 3213 ENSG00000120093 OTTHUMG00000159922 uc010dbf.4 NM_001330322 "CCDS11528|CCDS82154|CCDS82153" P14651 "1973146|1358459" MGI:96184 RGD:1310780 142966 8642 HGNC:5114 "ENST00000498678.6|NM_001384749.1" +HGNC:5114 HOXB3 homeobox B3 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2G" homeo box B3 "HOXL subclass homeoboxes|MicroRNA protein coding host genes" "518|1691" 1990-06-15 2005-12-22 2023-01-20 3213 ENSG00000120093 OTTHUMG00000159922 uc010dbf.4 NM_001330322 "CCDS82154|CCDS82153|CCDS11528" P14651 "1973146|1358459" MGI:96184 RGD:1310780 142966 8642 HGNC:5114 "ENST00000498678.6|NM_001384749.1" HGNC:5115 HOXB4 homeobox B4 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2F" homeo box B4 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3214 ENSG00000182742 OTTHUMG00000159920 uc002inp.4 NM_024015 CCDS11529 P17483 "1973146|1358459" MGI:96185 RGD:1560113 142965 8643 HGNC:5115 "ENST00000332503.6|NM_024015.5" HGNC:5116 HOXB5 homeobox B5 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2A" homeo box B5 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3215 ENSG00000120075 OTTHUMG00000159913 uc002inr.4 NM_002147 CCDS11530 P09067 "1973146|1358459" MGI:96186 RGD:1562292 142960 8644 HGNC:5116 "ENST00000239151.6|NM_002147.4" HGNC:5117 HOXB6 homeobox B6 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2B" homeo box B6 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3216 ENSG00000108511 OTTHUMG00000159912 uc010dbh.2 NM_001369397 CCDS11531 P17509 "1973146|1358459" MGI:96187 RGD:1562142 142961 8645 HGNC:5117 "ENST00000225648.4|NM_018952.5" @@ -12132,7 +12133,7 @@ HGNC:5131 HOXD@ homeobox D cluster other region Approved 2q31.1 02q31.1 HOX4@ HGNC:5132 HOXD1 homeobox D1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4|HOX4G" homeo box D1 "HOXL subclass homeoboxes|MicroRNA protein coding host genes" "518|1691" 1990-07-05 2005-12-22 2023-01-20 3231 ENSG00000128645 OTTHUMG00000132512 uc002ukv.5 NM_024501 CCDS2271 Q9GZZ0 "1973146|1358459" MGI:96201 RGD:1309179 142987 8658 HGNC:5132 "ENST00000331462.6|NM_024501.3" HGNC:5137 HOXD3 homeobox D3 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4A|HOX4|HOX1D" homeo box D3 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3232 ENSG00000128652 OTTHUMG00000187566 uc061pyi.1 NM_006898 CCDS2270 P31249 "1973146|1358459" MGI:96207 RGD:1588601 142980 8662 HGNC:5137 "ENST00000683222.1|NM_006898.5" HGNC:5138 HOXD4 homeobox D4 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4B|HOX4" homeo box D4 "HOXL subclass homeoboxes|MicroRNA protein coding host genes" "518|1691" 1990-06-15 2005-12-22 2023-01-20 3233 ENSG00000170166 OTTHUMG00000132515 uc002uks.4 NM_014621 CCDS2269 P09016 "1973146|1358459" MGI:96208 RGD:1309690 142981 8663 HGNC:5138 "ENST00000306324.4|NM_014621.3" -HGNC:5139 HOXD8 homeobox D8 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4|HOX4E" homeo box D8 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3234 ENSG00000175879 OTTHUMG00000132513 uc002uko.4 NM_001199746 "CCDS2268|CCDS56149|CCDS56148" P13378 "1973146|1358459" MGI:96209 RGD:6489440 142985 8664 HGNC:5139 "ENST00000313173.6|NM_019558.4" +HGNC:5139 HOXD8 homeobox D8 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4|HOX4E" homeo box D8 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3234 ENSG00000175879 OTTHUMG00000132513 uc002uko.4 NM_001199746 "CCDS56148|CCDS56149|CCDS2268" P13378 "1973146|1358459" MGI:96209 RGD:6489440 142985 8664 HGNC:5139 "ENST00000313173.6|NM_019558.4" HGNC:5140 HOXD9 homeobox D9 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4C|HOX4" homeo box D9 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3235 ENSG00000128709 OTTHUMG00000132516 uc010zex.3 NM_014213 CCDS2267 P28356 "1973146|1358459" MGI:96210 RGD:1582908 142982 8665 HGNC:5140 "ENST00000249499.8|NM_014213.4" HGNC:5133 HOXD10 homeobox D10 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4|HOX4D" homeo box D10 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3236 ENSG00000128710 OTTHUMG00000132511 uc002ukj.4 NM_002148 CCDS2266 P28358 "1973146|1358459" MGI:96202 RGD:1306511 LRG_246|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_246.xml 142984 8659 189174 HGNC:5133 "ENST00000249501.5|NM_002148.4" HGNC:5133 HGNC:5134 HOXD11 homeobox D11 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4|HOX4F" homeo box D11 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2023-01-20 3237 ENSG00000128713 OTTHUMG00000132510 uc010fqx.4 NM_021192 CCDS2265 P31277 "1973146|1358459" MGI:96203 RGD:7730597 HOXD11 142986 8660 HGNC:5134 "ENST00000249504.7|NM_021192.3" @@ -12143,10 +12144,10 @@ HGNC:24973 HP1BP3 heterochromatin protein 1 binding protein 3 protein-coding gen HGNC:5144 HPCA hippocalcin protein-coding gene gene with protein product Approved 1p35.1 01p35.1 DYT2 dystonia 2, torsion (autosomal recessive) EF-hand domain containing 863 1994-12-14 2023-01-20 3208 ENSG00000121905 OTTHUMG00000004017 uc001bwh.4 BC001777 NM_002143 CCDS370 P84074 "8166736|9931466|25799108" MGI:1336200 RGD:620060 142622 426083 HGNC:5144 "ENST00000373467.4|NM_002143.3" HGNC:5144 HGNC:5145 HPCAL1 hippocalcin like 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "BDR1|HLP2|VILIP-3" "visinin-like protein 3|calcium-binding protein BDR-1" EF-hand domain containing 863 1994-12-14 2016-01-12 2023-01-20 3241 ENSG00000115756 OTTHUMG00000090451 uc002raj.5 NM_002149 CCDS1671 P37235 "8038222|14739275" MGI:1855689 RGD:708375 600207 HGNC:5145 "ENST00000307845.8|NM_002149.4" HGNC:18212 HPCAL4 hippocalcin like 4 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "HLP4|DKFZp761G122" EF-hand domain containing 863 2002-05-01 2023-01-20 51440 ENSG00000116983 OTTHUMG00000009246 uc001cdr.5 AB001105 NM_016257 "CCDS72761|CCDS441" Q9UM19 10520747 MGI:2157521 RGD:708491 619211 HGNC:18212 "ENST00000372844.8|NM_016257.4" -HGNC:5147 HPD 4-hydroxyphenylpyruvate dioxygenase protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "4-HPPD|4HPPD|GLOD3" glyoxalase domain containing 3 PPD Glyoxalase domain containing family 2111 1992-12-08 2023-01-20 3242 ENSG00000158104 OTTHUMG00000169081 uc001ubj.4 BC014790 NM_002150 "CCDS9224|CCDS53839" P32754 MGI:96213 RGD:61974 609695 122470 objectId:2621 1.13.11.27 HGNC:5147 "ENST00000289004.8|NM_002150.3" HGNC:5147 +HGNC:5147 HPD 4-hydroxyphenylpyruvate dioxygenase protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "4-HPPD|4HPPD|GLOD3" glyoxalase domain containing 3 PPD Glyoxalase domain containing family 2111 1992-12-08 2023-01-20 3242 ENSG00000158104 OTTHUMG00000169081 uc001ubj.4 BC014790 NM_002150 "CCDS53839|CCDS9224" P32754 MGI:96213 RGD:61974 609695 122470 objectId:2621 1.13.11.27 HGNC:5147 "ENST00000289004.8|NM_002150.3" HGNC:5147 HGNC:28242 HPDL 4-hydroxyphenylpyruvate dioxygenase like protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "MGC15668|4-HPPD-L" GLOXD1 glyoxalase domain containing 1 Glyoxalase domain containing family 2111 2005-07-26 2007-03-14 2016-03-16 2023-01-20 84842 ENSG00000186603 OTTHUMG00000007681 uc001cne.4 BC007293 NM_032756 CCDS519 Q96IR7 32707086 MGI:2444646 RGD:1310014 618994 HGNC:28242 "ENST00000334815.6|NM_032756.4" HGNC:28242 HGNC:26051 HPF1 histone PARylation factor 1 protein-coding gene gene with protein product Approved 4q33 04q33 FLJ20534 C4orf27 chromosome 4 open reading frame 27 2006-06-15 2016-04-27 2016-04-27 2023-01-20 54969 ENSG00000056050 OTTHUMG00000160960 uc003isl.5 BC010367 NM_017867 CCDS3813 Q9NWY4 "11230166|27067600" MGI:1919862 RGD:1311747 616614 HGNC:26051 "ENST00000393381.3|NM_017867.3" -HGNC:5154 HPGD 15-hydroxyprostaglandin dehydrogenase protein-coding gene gene with protein product Approved 4q34.1 04q34.1 SDR36C1 "short chain dehydrogenase/reductase family 36C, member 1|15-hydroxyprostaglandin dehydrogenase (NAD(+))" hydroxyprostaglandin dehydrogenase 15-(NAD) Short chain dehydrogenase/reductase superfamily 743 1991-07-16 2017-08-04 2023-01-20 3248 ENSG00000164120 OTTHUMG00000160772 uc003itu.3 NM_000860 "CCDS54821|CCDS58933|CCDS58934|CCDS58935|CCDS87280|CCDS3821" P15428 19027726 MGI:108085 RGD:620087 601688 168077 objectId:1384 1.1.1.141 HGNC:5154 "ENST00000296522.11|NM_000860.6" HGNC:5154 +HGNC:5154 HPGD 15-hydroxyprostaglandin dehydrogenase protein-coding gene gene with protein product Approved 4q34.1 04q34.1 SDR36C1 "short chain dehydrogenase/reductase family 36C, member 1|15-hydroxyprostaglandin dehydrogenase (NAD(+))" hydroxyprostaglandin dehydrogenase 15-(NAD) Short chain dehydrogenase/reductase superfamily 743 1991-07-16 2017-08-04 2023-01-20 3248 ENSG00000164120 OTTHUMG00000160772 uc003itu.3 NM_000860 "CCDS54821|CCDS58934|CCDS3821|CCDS58935|CCDS87280|CCDS58933" P15428 19027726 MGI:108085 RGD:620087 601688 168077 objectId:1384 1.1.1.141 HGNC:5154 "ENST00000296522.11|NM_000860.6" HGNC:5154 HGNC:17890 HPGDS hematopoietic prostaglandin D synthase protein-coding gene gene with protein product Approved 4q22.3 04q22.3 "GSTS|PGDS|H-PGDS|PGD2|GSTS1-1|GSTS1" glutathione S-transferase sigma Soluble glutathione S-transferases 567 2009-07-14 2023-01-20 27306 ENSG00000163106 OTTHUMG00000130974 uc003hte.2 D82073 NM_014485 CCDS3640 O60760 "9323136|9353279|11672424" MGI:1859384 RGD:69251 602598 objectId:1381 HGNC:17890 "ENST00000295256.10|NM_014485.3" HGNC:5155 HPN hepsin protein-coding gene gene with protein product Approved 19q13.11 19q13.11 TMPRSS1 transmembrane protease, serine 1 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 1992-12-07 2008-12-08 2023-01-20 3249 ENSG00000105707 OTTHUMG00000182474 uc002nxq.3 NM_002151 CCDS32993 P05981 2835076 MGI:1196620 RGD:61982 142440 S01.224 HGNC:5155 "ENST00000672452.2|NM_001384133.1" HGNC:47041 HPN-AS1 HPN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.11-q13.12 19q13.11-q13.12 Antisense RNAs 1987 2013-04-21 2018-02-13 100128675 ENSG00000227392 OTTHUMG00000182475 uc010xsi.3 NR_024561 HPN-AS1 HGNC:47041 @@ -12155,20 +12156,20 @@ HGNC:5157 HPRT1 hypoxanthine phosphoribosyltransferase 1 protein-coding gene gen HGNC:51622 HPRT1P1 hypoxanthine phosphoribosyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 4p15.32 04p15.32 2015-03-26 2015-03-26 100130067 ENSG00000251644 OTTHUMG00000160176 NG_022006 PGOHUM00000299773 HGNC:51622 HGNC:5160 HPRT1P2 hypoxanthine phosphoribosyltransferase 1 pseudogene 2 pseudogene pseudogene Approved 5p13.3 05p13.3 HPRTP2 hypoxanthine phosphoribosyltransferase pseudogene 2 2001-06-22 2015-03-26 2015-03-26 2015-03-26 3254 ENSG00000250587 OTTHUMG00000161944 NG_003031 "6089358|1675192" PGOHUM00000300908 HGNC:5160 HGNC:5161 HPRT1P3 hypoxanthine phosphoribosyltransferase 1 pseudogene 3 pseudogene pseudogene Approved 11q21 11q21 "HPRTP3|HPRTP4" "hypoxanthine phosphoribosyltransferase pseudogene 3|hypoxanthine phosphoribosyltransferase pseudogene 4" 2001-06-22 2015-03-26 2015-03-26 2015-03-26 3255 ENSG00000256752 OTTHUMG00000167744 NG_007296 PGOHUM00000290654 HGNC:5161 -HGNC:5163 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 BLOC3S1 HPS "Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 1" "Biogenesis of lysosomal organelles complex 3 |MicroRNA protein coding host genes" "1039|1691" 1990-05-14 2002-05-01 2019-01-22 2023-01-20 3257 ENSG00000107521 OTTHUMG00000018876 uc057vhe.1 U79136 "NM_000195|NM_182637|NM_182638|NM_182639" "CCDS91316|CCDS91315|CCDS7475|CCDS91313|CCDS7476|CCDS91314" Q92902 "8541858|7573033" MGI:2177763 RGD:69193 "Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the ep-Gene|http://www.retina-international.org/files/sci-news/epmut.htm|LRG_562|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_562.xml" 604982 122480 HGNC:5163 "ENST00000361490.9|NM_000195.5" HGNC:5163 +HGNC:5163 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 BLOC3S1 HPS "Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 1" "Biogenesis of lysosomal organelles complex 3 |MicroRNA protein coding host genes" "1039|1691" 1990-05-14 2002-05-01 2019-01-22 2023-01-20 3257 ENSG00000107521 OTTHUMG00000018876 uc057vhe.1 U79136 "NM_000195|NM_182637|NM_182638|NM_182639" "CCDS91315|CCDS7476|CCDS7475|CCDS91313|CCDS91316|CCDS91314" Q92902 "8541858|7573033" MGI:2177763 RGD:69193 "Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the ep-Gene|http://www.retina-international.org/files/sci-news/epmut.htm|LRG_562|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_562.xml" 604982 122480 HGNC:5163 "ENST00000361490.9|NM_000195.5" HGNC:5163 HGNC:56166 HPS1-AS1 HPS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 Antisense RNAs 1987 2022-01-14 2022-01-14 101927278 ENSG00000287261 NR_134451 HGNC:15597 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 protein-coding gene gene with protein product Approved 3q24 03q24 "SUTAL|BLOC2S1" Hermansky-Pudlak syndrome 3 Biogenesis of lysosomal organelles complex 2 1038 2001-06-13 2019-01-22 2023-01-20 84343 ENSG00000163755 OTTHUMG00000159548 uc003ewu.2 AY033141 NM_032383 "CCDS77836|CCDS3140" Q969F9 11455388 MGI:2153839 RGD:1310548 "Mutations of the HPS3 Gene|http://www.retina-international.org/files/sci-news/hps3mut.htm|Albinism Database|http://albinismdb.med.umn.edu/|LRG_563|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_563.xml" 606118 122483 HGNC:15597 "ENST00000296051.7|NM_032383.5" HGNC:15597 -HGNC:15844 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "KIAA1667|LE|BLOC3S2" Hermansky-Pudlak syndrome 4 Biogenesis of lysosomal organelles complex 3 1039 2001-06-28 2019-01-22 2023-03-15 89781 ENSG00000100099 OTTHUMG00000030459 uc003acl.5 NM_022081 "CCDS13835|CCDS93139|CCDS93140|CCDS46677|CCDS93138" Q9NQG7 "11836498|12663659" MGI:2177742 RGD:1308070 "Mutations of the Human light ear Gene (le, HPS4)|http://www.retina-international.org/files/sci-news/lemut.htm|LRG_590|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_590.xml" 606682 122486 HGNC:15844 "ENST00000398145.7|NM_022081.6" HGNC:15844 +HGNC:15844 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "KIAA1667|LE|BLOC3S2" Hermansky-Pudlak syndrome 4 Biogenesis of lysosomal organelles complex 3 1039 2001-06-28 2019-01-22 2023-03-15 89781 ENSG00000100099 OTTHUMG00000030459 uc003acl.5 NM_022081 "CCDS93139|CCDS13835|CCDS93138|CCDS46677|CCDS93140" Q9NQG7 "11836498|12663659" MGI:2177742 RGD:1308070 "Mutations of the Human light ear Gene (le, HPS4)|http://www.retina-international.org/files/sci-news/lemut.htm|LRG_590|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_590.xml" 606682 122486 HGNC:15844 "ENST00000398145.7|NM_022081.6" HGNC:15844 HGNC:17022 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "BLOC2S2|AIBP63|RU2" "alpha-integrin-binding protein 63|Ruby-eye protein 2 homolog" Hermansky-Pudlak syndrome 5 "WD repeat domain containing|Biogenesis of lysosomal organelles complex 2 " "362|1038" 2002-06-13 2019-01-22 2023-01-20 11234 ENSG00000110756 OTTHUMG00000166612 uc001mod.2 AB023234 NM_181507 "CCDS7837|CCDS7836" Q9UPZ3 "10231032|10094488" MGI:2180307 RGD:1311916 LRG_586|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_586.xml 607521 122490 HGNC:17022 "ENST00000349215.8|NM_181507.2" HGNC:17022 HGNC:18817 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "FLJ22501|BLOC2S3" Hermansky-Pudlak syndrome 6 Biogenesis of lysosomal organelles complex 2 1038 2004-02-04 2019-01-22 2023-01-20 79803 ENSG00000166189 OTTHUMG00000018945 uc001kuj.4 BC009258 NM_024747 CCDS7527 Q86YV9 12548288 MGI:2181763 RGD:631341 LRG_564|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_564.xml 607522 122492 HGNC:18817 "ENST00000299238.7|NM_024747.6" HGNC:18817 -HGNC:5164 HPSE heparanase protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "HPA|HSE1|HPSE1" heparanase-1 Heparanases 1651 1999-09-28 2023-05-24 10855 ENSG00000173083 OTTHUMG00000130425 uc003hok.4 AF144325 NM_006665 "CCDS3602|CCDS56337|CCDS54774" Q9Y251 "10395325|10395326" MGI:1343124 RGD:61969 604724 objectId:2996 HGNC:5164 "ENST00000311412.10|NM_001098540.3" -HGNC:18374 HPSE2 heparanase 2 (inactive) protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "HPA2|HPR2" UFS "urofacial syndrome|heparanase 2" "Heparanases|MicroRNA protein coding host genes" "1651|1691" 2002-09-02 2014-05-09 2023-01-20 60495 ENSG00000172987 OTTHUMG00000018880 uc001kpn.3 AF282885 NM_021828 "CCDS7477|CCDS53567|CCDS53566|CCDS53568" Q8WWQ2 "11027606|20560210|9199567|20576607" MGI:2685814 RGD:1307959 613469 235189 HGNC:18374 "ENST00000370552.8|NM_021828.5" HGNC:18374 +HGNC:5164 HPSE heparanase protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "HPA|HSE1|HPSE1" heparanase-1 Heparanases 1651 1999-09-28 2023-05-24 10855 ENSG00000173083 OTTHUMG00000130425 uc003hok.4 AF144325 NM_006665 "CCDS3602|CCDS54774|CCDS56337" Q9Y251 "10395325|10395326" MGI:1343124 RGD:61969 604724 objectId:2996 HGNC:5164 "ENST00000311412.10|NM_001098540.3" +HGNC:18374 HPSE2 heparanase 2 (inactive) protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "HPA2|HPR2" UFS "urofacial syndrome|heparanase 2" "Heparanases|MicroRNA protein coding host genes" "1651|1691" 2002-09-02 2014-05-09 2023-01-20 60495 ENSG00000172987 OTTHUMG00000018880 uc001kpn.3 AF282885 NM_021828 "CCDS53566|CCDS7477|CCDS53567|CCDS53568" Q8WWQ2 "11027606|20560210|9199567|20576607" MGI:2685814 RGD:1307959 613469 235189 HGNC:18374 "ENST00000370552.8|NM_021828.5" HGNC:18374 HGNC:5168 HPV6AI1 human papillomavirus (type 6a) integration site 1 other virus integration site Approved 10q24 10q24 1994-05-19 2010-06-16 3259 X77607 8118820 604461 HGNC:5166 HPV18I1 human papillomavirus (type 18) integration site 1 other virus integration site Approved 8q24 08q24 "HPV18I|D8S37" human papilloma virus (type 18) integration site 1 1991-08-19 2017-08-03 2017-08-03 3260 3028716 167959 HGNC:5167 HPV18I2 human papillomavirus (type 18) integration site 2 other virus integration site Approved 12q14 12q14 PAL2 papillomavirus-associated locus 2 1991-08-19 2010-06-17 3261 "X88931|X88932" "3033295|7592643" 167960 HGNC:5171 HPX hemopexin protein-coding gene gene with protein product Approved 11p15.4 11p15.4 2001-06-22 2023-01-20 3263 ENSG00000110169 OTTHUMG00000133399 uc001mdg.3 J03048 NM_000613 CCDS7763 P02790 "2989777|2842511" MGI:105112 RGD:62040 142290 HGNC:5171 "ENST00000265983.8|NM_000613.3" HGNC:16071 HPYR1 Helicobacter pylori responsive 1 non-coding RNA RNA, long non-coding Approved 8q24.22 08q24.22 "HPRG1|NCRNA00027|LINC00027" "non-protein coding RNA 27|long intergenic non-protein coding RNA 27" "Helicobacter pylori responsive 1|Helicobacter pylori responsive 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-07-16 2018-05-16 2018-05-16 93668 ENSG00000253521 OTTHUMG00000164645 uc011liz.1 AF200341 NR_026684 11598072 HPYR1 HGNC:16071 -HGNC:5172 HR HR lysine demethylase and nuclear receptor corepressor protein-coding gene gene with protein product Approved 8p21.3 08p21.3 AU ALUNC "hairless homolog (mouse)|hair growth associated" 1995-07-11 2019-01-22 2023-01-20 55806 ENSG00000168453 OTTHUMG00000097089 uc003xas.4 AF039196 NM_005144 "CCDS6022|CCDS6023" O43593 "10051399|9463324|19122663|24334705" MGI:96223 RGD:620634 602302 122495 1.14.11.- HGNC:5172 "ENST00000381418.9|NM_005144.5" HGNC:5172 +HGNC:5172 HR HR lysine demethylase and nuclear receptor corepressor protein-coding gene gene with protein product Approved 8p21.3 08p21.3 AU ALUNC "hairless homolog (mouse)|hair growth associated" 1995-07-11 2019-01-22 2023-01-20 55806 ENSG00000168453 OTTHUMG00000097089 uc003xas.4 AF039196 NM_005144 "CCDS6023|CCDS6022" O43593 "10051399|9463324|19122663|24334705" MGI:96223 RGD:620634 602302 122495 1.14.11.- HGNC:5172 "ENST00000381418.9|NM_005144.5" HGNC:5172 HGNC:5173 HRAS HRas proto-oncogene, GTPase protein-coding gene gene with protein product Approved 11p15.5 11p15.5 HRAS1 "v-Ha-ras Harvey rat sarcoma viral oncogene homolog|Harvey rat sarcoma viral oncogene homolog" RAS type GTPase family 389 2001-06-22 2016-06-10 2023-01-20 3265 ENSG00000174775 OTTHUMG00000131919 uc010qvx.3 AJ437024 NM_176795 "CCDS7698|CCDS7699" P01112 MGI:96224 RGD:2827 LRG_506|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_506.xml HRAS 190020 122499 objectId:2822 HGNC:5173 "ENST00000311189.8|NM_005343.4" HGNC:5173 HGNC:5178 HRC histidine rich calcium binding protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 MGC133236 histidine-rich calcium-binding protein 1990-09-30 2001-11-28 2023-01-20 3270 ENSG00000130528 OTTHUMG00000183203 uc002pmv.4 NM_002152 CCDS12759 P23327 2037293 MGI:96226 RGD:727864 142705 HGNC:5178 "ENST00000252825.9|NM_002152.3" HGNC:33872 HRCT1 histidine rich carboxyl terminus 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "LGLL338|PRO537|UNQ338" 2008-09-17 2023-01-20 646962 ENSG00000196196 OTTHUMG00000154146 uc003zyr.1 NM_001039792 CCDS35012 Q6UXD1 12975309 MGI:1917945 RGD:2323278 HGNC:33872 "ENST00000354323.3|NM_001039792.2" @@ -12180,10 +12181,10 @@ HGNC:56614 HRGP2 HRG pseudogene 2 pseudogene pseudogene Approved 3q27.3 03q27.3 HGNC:5182 HRH1 histamine receptor H1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 Histamine receptors 187 1994-12-12 2023-01-20 3269 ENSG00000196639 OTTHUMG00000129719 uc010hdr.4 NM_000861 CCDS2604 P35367 8003029 MGI:107619 RGD:2830 600167 objectId:262 HGNC:5182 "ENST00000431010.3|NM_001098212.2" HGNC:5183 HRH2 histamine receptor H2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 Histamine receptors 187 1994-12-12 2023-01-20 3274 ENSG00000113749 OTTHUMG00000130660 uc003mdd.3 NM_001131055 "CCDS47344|CCDS93828" P25021 1714721 MGI:108482 RGD:2831 142703 objectId:263 HGNC:5183 "ENST00000636584.2|NM_001367711.1" HGNC:5184 HRH3 histamine receptor H3 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 GPCR97 Histamine receptors 187 2000-01-07 2023-01-20 11255 ENSG00000101180 OTTHUMG00000032899 uc002ycf.3 AF140538 NM_007232 CCDS13493 Q9Y5N1 10347254 MGI:2139279 RGD:620630 604525 objectId:264 HGNC:5184 "ENST00000340177.10|NM_007232.3" -HGNC:17383 HRH4 histamine receptor H4 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "H4R|HH4R|AXOR35|GPCR105|GPRv53" Histamine receptors 187 2002-11-26 2023-01-20 59340 ENSG00000134489 OTTHUMG00000131945 uc002kvi.3 AF312230 NM_001143828 "CCDS45841|CCDS11887" Q9H3N8 "11118334|10973974" MGI:2429635 RGD:620631 606792 objectId:265 HGNC:17383 "ENST00000256906.5|NM_021624.4" +HGNC:17383 HRH4 histamine receptor H4 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "H4R|HH4R|AXOR35|GPCR105|GPRv53" Histamine receptors 187 2002-11-26 2023-01-20 59340 ENSG00000134489 OTTHUMG00000131945 uc002kvi.3 AF312230 NM_001143828 "CCDS11887|CCDS45841" Q9H3N8 "11118334|10973974" MGI:2429635 RGD:620631 606792 objectId:265 HGNC:17383 "ENST00000256906.5|NM_021624.4" HGNC:5185 HRK harakiri, BCL2 interacting protein protein-coding gene gene with protein product Approved 12q24.22 12q24.22 DP5 death protein 5 harakiri, BCL2-interacting protein (contains only BH3 domain) BCL2 homology region 3 (BH3) only 1277 1999-05-21 2014-03-07 2023-01-20 8739 ENSG00000135116 OTTHUMG00000169328 uc001twe.5 U76376 NM_003806 CCDS9181 O00198 9130713 MGI:1201608 RGD:70549 603447 HGNC:5185 "ENST00000257572.5|NM_003806.4" HGNC:20846 HRNR hornerin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "S100a18|S100A16|FLG3" filaggrin family member 3 "EF-hand domain containing|S100 fused type protein family" "863|1350" 2004-10-05 2023-01-20 388697 ENSG00000197915 OTTHUMG00000012243 uc001ezt.3 AB104446 NM_001009931 CCDS30859 Q86YZ3 15507446 MGI:3046938 RGD:1307660 616293 HGNC:20846 "ENST00000368801.4|NM_001009931.3" -HGNC:28460 HROB homologous recombination factor with OB-fold protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MGC3130|MCM8IP" C17orf53 chromosome 17 open reading frame 53 2005-12-15 2019-09-04 2019-09-06 2023-01-20 78995 ENSG00000125319 OTTHUMG00000181808 uc002ifi.2 AK021656 NM_024032 "CCDS11477|CCDS82136|CCDS59293" Q8N3J3 "31467087|32528060" MGI:2387601 RGD:1305385 618611 HGNC:28460 "ENST00000585683.6|NM_001171251.3" +HGNC:28460 HROB homologous recombination factor with OB-fold protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MGC3130|MCM8IP" C17orf53 chromosome 17 open reading frame 53 2005-12-15 2019-09-04 2019-09-06 2023-01-20 78995 ENSG00000125319 OTTHUMG00000181808 uc002ifi.2 AK021656 NM_024032 "CCDS59293|CCDS82136|CCDS11477" Q8N3J3 "31467087|32528060" MGI:2387601 RGD:1305385 618611 HGNC:28460 "ENST00000585683.6|NM_001171251.3" HGNC:55085 HRURF HR upstream open reading frame protein-coding gene gene with protein product Approved 8p21.3 08p21.3 U2HR HR upstream reading frame 2020-12-16 2021-03-11 2023-03-08 120766137 ENSG00000288677 NM_001394132 P0DUH7 19122663 619257 "ENST00000518377.3|NM_001394132.1" HGNC:24979 HS1BP3 HCLS1 binding protein 3 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "HS1-BP3|FLJ14249" 2006-08-15 2023-01-20 64342 ENSG00000118960 OTTHUMG00000122099 uc002rdw.2 NM_022460 CCDS1700 Q53T59 "10590261|15699368" MGI:1913224 RGD:1311331 609359 HGNC:24979 "ENST00000304031.8|NM_022460.4" HGNC:41474 HS1BP3-IT1 HS1BP3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 HS1BP3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874343 ENSG00000231948 OTTHUMG00000151789 uc032nge.1 NR_046836 HS1BP3-IT1 HGNC:41474 @@ -12197,14 +12198,14 @@ HGNC:19419 HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 protein-codin HGNC:14178 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HS3ST5 "heparan sulfate (glucosamine) 3-O-sulfotransferase 5|heparan sulfate (glucosamine) 3-O-sulfotransferase 6" Sulfotransferases, membrane bound 763 2000-12-21 2003-06-13 2015-12-04 2023-01-20 64711 ENSG00000162040 OTTHUMG00000047860 uc002cnf.5 NM_001009606 CCDS45381 Q96QI5 11157797 MGI:3580487 RGD:1584381 619210 HGNC:14178 "ENST00000454677.3|NM_001009606.4" HGNC:5201 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 HS6ST Sulfotransferases, membrane bound 763 1999-12-07 2002-08-23 2023-01-20 9394 ENSG00000136720 OTTHUMG00000153542 uc002tpt.5 AB006179 NM_004807 CCDS42748 O60243 9535912 MGI:1354958 RGD:1309218 604846 281487 2.8.2.- HGNC:5201 "ENST00000259241.7|NM_004807.3" HGNC:5201 HGNC:31835 HS6ST1P1 heparan sulfate 6-O-sulfotransferase 1 pseudogene 1 pseudogene pseudogene Approved 1p36.12 01p36.12 HS6ST1P heparan sulfate 6-O-sulfotransferase 1 pseudogene 2004-10-29 2010-03-19 2010-03-19 2014-11-19 388605 ENSG00000187952 OTTHUMG00000002942 NG_005670 HGNC:31835 -HGNC:19133 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 HS6ST-2 Sulfotransferases, membrane bound 763 2002-08-19 2023-01-20 90161 ENSG00000171004 OTTHUMG00000022430 uc011mve.2 AB067776 NM_147174 "CCDS48169|CCDS48170" Q96MM7 10644753 MGI:1354959 RGD:1564397 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HS6ST2 300545 HGNC:19133 "ENST00000370833.7|NM_001394073.1" HGNC:19133 +HGNC:19133 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 HS6ST-2 Sulfotransferases, membrane bound 763 2002-08-19 2023-01-20 90161 ENSG00000171004 OTTHUMG00000022430 uc011mve.2 AB067776 NM_147174 "CCDS48170|CCDS48169" Q96MM7 10644753 MGI:1354959 RGD:1564397 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HS6ST2 300545 HGNC:19133 "ENST00000370833.7|NM_001394073.1" HGNC:19133 HGNC:40870 HS6ST2-AS1 HS6ST2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.2 Xq26.2 HS6ST2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874102 ENSG00000235849 OTTHUMG00000022427 uc031tkk.2 NR_046691 HS6ST2-AS1 HGNC:40870 HGNC:19134 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "Sulfotransferases, membrane bound|MicroRNA protein coding host genes" "763|1691" 2002-10-07 2023-01-20 266722 ENSG00000185352 OTTHUMG00000017232 uc001vmw.4 AF539426 NM_153456 CCDS9481 Q8IZP7 MGI:1354960 RGD:1305888 609401 HGNC:19134 "ENST00000376705.4|NM_153456.4" HGNC:5203 HSBP1 heat shock factor binding protein 1 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 1998-07-30 2023-01-20 3281 ENSG00000230989 OTTHUMG00000176653 uc002fgy.3 AF068754 NM_001537 CCDS45534 O75506 "9649501|9493008" MGI:1915446 RGD:628632 604553 HGNC:5203 "ENST00000433866.7|NM_001537.4" HGNC:37243 HSBP1L1 heat shock factor binding protein 1 like 1 protein-coding gene gene with protein product Approved 18q23 18q23 "FLJ10967|MGC189743" 2009-09-21 2016-06-10 2023-01-20 440498 ENSG00000226742 OTTHUMG00000180375 uc002lno.5 NM_001136180 CCDS45886 C9JCN9 MGI:1913505 RGD:2301798 HGNC:37243 "ENST00000451882.3|NM_001136180.2" HGNC:20053 HSBP1P1 heat shock factor binding protein 1 pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 2003-01-13 2014-11-19 326296 ENSG00000258650 OTTHUMG00000171142 NG_002548 PGOHUM00000248188 HGNC:20053 HGNC:37300 HSBP1P2 heat shock factor binding protein 1 pseudogene 2 pseudogene pseudogene Approved 4q25 04q25 2009-09-21 2009-09-21 100288483 ENSG00000166530 OTTHUMG00000161107 XM_002342465 HGNC:37300 -HGNC:28913 HSCB HscB mitochondrial iron-sulfur cluster cochaperone protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "HSC20|DNAJC20|Jac1" DnaJ (Hsp40) homolog, subfamily C, member 20 HscB iron-sulfur cluster co-chaperone homolog (E. coli) DNAJ (HSP40) heat shock proteins 584 2006-10-30 2016-05-24 2023-01-20 150274 ENSG00000100209 OTTHUMG00000151092 uc003aea.4 AY191719 NM_172002 "CCDS13845|CCDS87014|CCDS82704" Q8IWL3 "12938016|16952052" MGI:2141135 RGD:1311005 608142 HGNC:28913 "ENST00000216027.8|NM_172002.5" +HGNC:28913 HSCB HscB mitochondrial iron-sulfur cluster cochaperone protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "HSC20|DNAJC20|Jac1" DnaJ (Hsp40) homolog, subfamily C, member 20 HscB iron-sulfur cluster co-chaperone homolog (E. coli) DNAJ (HSP40) heat shock proteins 584 2006-10-30 2016-05-24 2023-01-20 150274 ENSG00000100209 OTTHUMG00000151092 uc003aea.4 AY191719 NM_172002 "CCDS82704|CCDS13845|CCDS87014" Q8IWL3 "12938016|16952052" MGI:2141135 RGD:1311005 608142 HGNC:28913 "ENST00000216027.8|NM_172002.5" HGNC:5217 HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 protein-coding gene gene with protein product Approved 1p12 01p12 SDR11E1 short chain dehydrogenase/reductase family 11E, member 1 "HSDB3|HSD3B" Short chain dehydrogenase/reductase superfamily 743 1989-05-24 2023-01-20 3283 ENSG00000203857 OTTHUMG00000012525 uc001ehv.2 S45679 NM_000862 CCDS903 P14060 "2779585|19027726" "MGI:96233|MGI:96234|MGI:96235|MGI:96236|MGI:104645|MGI:109598|MGI:3711284|MGI:3782634" RGD:1308676 109715 "1.1.1.145|5.3.3.1" HGNC:5217 "ENST00000369413.8|NM_000862.3" HGNC:5218 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 protein-coding gene gene with protein product Approved 1p12 01p12 SDR11E2 short chain dehydrogenase/reductase family 11E, member 2 Short chain dehydrogenase/reductase superfamily 743 1992-09-10 2023-01-20 3284 ENSG00000203859 OTTHUMG00000012526 uc021ost.2 BC038419 NM_000198 CCDS902 P26439 "1363812|19027726" "MGI:96233|MGI:96234|MGI:96235|MGI:96236|MGI:104645|MGI:109598|MGI:3711284|MGI:3782634" RGD:67377 613890 122515 objectId:2622 "1.1.1.145|5.3.3.1" HGNC:5218 "ENST00000369416.4|NM_000198.4" HGNC:5218 HGNC:18324 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "C(27)-3BETA-HSD|SDR11E3" short chain dehydrogenase/reductase family 11E, member 3 Short chain dehydrogenase/reductase superfamily 743 2003-01-13 2023-01-20 80270 ENSG00000099377 OTTHUMG00000132417 uc002eaf.3 AF277719 NM_001142777 "CCDS10698|CCDS45466" Q9H2F3 "11067870|19027726" MGI:2141879 RGD:628727 607764 122517 "1.1.1.-|1.1.1.181" HGNC:18324 "ENST00000297679.10|NM_025193.4" HGNC:18324 @@ -12215,7 +12216,7 @@ HGNC:5222 HSD3BP4 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 ps HGNC:5223 HSD3BP5 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 5 pseudogene pseudogene Approved 1p12 01p12 1998-02-26 2020-04-20 391081 ENSG00000198857 OTTHUMG00000012961 NG_022803 10552929 PGOHUM00000244874 HGNC:5223 HGNC:5208 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 SDR26C1 short chain dehydrogenase/reductase family 26C, member 1 "HSD11B|HSD11" hydroxysteroid (11-beta) dehydrogenase 1 Short chain dehydrogenase/reductase superfamily 743 1991-11-14 2016-06-03 2023-01-20 3290 ENSG00000117594 OTTHUMG00000036481 uc021pin.2 BC012593 NM_005525 CCDS1489 P28845 "1885595|19027726" MGI:103562 RGD:2834 600713 173206 objectId:2763 1.1.1.146 HGNC:5208 "ENST00000367027.5|NM_005525.4" HGNC:5208 HGNC:54053 HSD11B1-AS1 HSD11B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Antisense RNAs 1987 2018-09-26 2018-09-26 101930114 ENSG00000227591 OTTHUMG00000036478 NR_134509 HGNC:54053 -HGNC:30419 HSD11B1L hydroxysteroid 11-beta dehydrogenase 1 like protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SCDR10|SDR26C2|HSD1L" "short chain dehydrogenase/reductase 10|short chain dehydrogenase/reductase family 26C, member 2" hydroxysteroid (11-beta) dehydrogenase 1-like Short chain dehydrogenase/reductase superfamily 743 2006-03-31 2016-06-03 2023-01-20 374875 ENSG00000167733 OTTHUMG00000178586 uc002mco.5 AY268353 NM_198706 "CCDS12144|CCDS12146|CCDS58641|CCDS45932|CCDS58642|CCDS12145|CCDS45931|CCDS74266" Q7Z5J1 28871060 1.1.1.- HGNC:30419 "ENST00000339423.7|NM_198706.3" +HGNC:30419 HSD11B1L hydroxysteroid 11-beta dehydrogenase 1 like protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SCDR10|SDR26C2|HSD1L" "short chain dehydrogenase/reductase 10|short chain dehydrogenase/reductase family 26C, member 2" hydroxysteroid (11-beta) dehydrogenase 1-like Short chain dehydrogenase/reductase superfamily 743 2006-03-31 2016-06-03 2023-01-20 374875 ENSG00000167733 OTTHUMG00000178586 uc002mco.5 AY268353 NM_198706 "CCDS12146|CCDS12144|CCDS12145|CCDS58641|CCDS45932|CCDS58642|CCDS74266|CCDS45931" Q7Z5J1 28871060 1.1.1.- HGNC:30419 "ENST00000339423.7|NM_198706.3" HGNC:5209 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 SDR9C3 short chain dehydrogenase/reductase family 9C, member 3 hydroxysteroid (11-beta) dehydrogenase 2 Short chain dehydrogenase/reductase superfamily 743 1994-11-18 2016-06-03 2023-01-20 3291 ENSG00000176387 OTTHUMG00000137507 uc002etd.4 U14631 NM_000196 CCDS10837 P80365 "7859916|8611140|19027726" MGI:104720 RGD:2835 614232 122502 objectId:3143 1.1.1.- HGNC:5209 "ENST00000326152.6|NM_000196.4" HGNC:5209 HGNC:5210 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "HSD17|MGC138140|SDR28C1" "Estradiol 17-beta-dehydrogenase-1|short chain dehydrogenase/reductase family 28CE, member 1" "EDHB17|EDH17B2" hydroxysteroid (17-beta) dehydrogenase 1 Short chain dehydrogenase/reductase superfamily 743 1991-06-05 2016-06-03 2023-01-20 3292 ENSG00000108786 OTTHUMG00000180243 uc002hzw.4 NM_000413 "CCDS82126|CCDS11428" P14061 "2330005|19027726" MGI:105077 RGD:2836 109684 1.1.1.62 HGNC:5210 "ENST00000585807.6|NM_000413.4" HGNC:55314 HSD17B1-AS1 HSD17B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 Antisense RNAs 1987 2020-10-19 2020-10-19 108783654 ENSG00000266962 NR_14440 @@ -12224,18 +12225,18 @@ HGNC:5211 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 protein-coding gene gen HGNC:56281 HSD17B2-AS1 HSD17B2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q23.3 16q23.3 "RP11-510J16.5|AS-HSD17beta2" Antisense RNAs 1987 2022-08-19 2022-08-19 105371363 ENSG00000261235 XR_007065140 35510872 HGNC:5212 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 SDR12C2 short chain dehydrogenase/reductase family 12C, member 2 hydroxysteroid (17-beta) dehydrogenase 3 Short chain dehydrogenase/reductase superfamily 743 1994-09-14 2016-06-03 2023-01-20 3293 ENSG00000130948 OTTHUMG00000020292 uc004awa.2 NM_000197 CCDS6716 P37058 "8075637|19027726" MGI:107177 RGD:621805 LRG_1296|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1296.xml 605573 122511 1.1.1.62 HGNC:5212 "ENST00000375263.8|NM_000197.2" HGNC:5212 HGNC:53136 HSD17B3-AS1 HSD17B3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q22.32 09q22.32 ENST00000448857 Antisense RNAs 1987 2017-02-16 2017-02-16 105376162 ENSG00000232283 OTTHUMG00000020294 NR_146524 27816668 HGNC:53136 -HGNC:5213 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "MFE-2|DBP|SDR8C1" "17beta-estradiol dehydrogenase type IV|peroxisomal multifunctional protein 2|17-beta-HSD IV|17-beta-hydroxysteroid dehydrogenase 4|D-bifunctional protein, peroxisomal|D-3-hydroxyacyl-CoA dehydratase|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase|beta-keto-reductase|beta-hydroxyacyl dehydrogenase|short chain dehydrogenase/reductase family 8C, member 1" hydroxysteroid (17-beta) dehydrogenase 4 Short chain dehydrogenase/reductase superfamily 743 1994-09-14 2016-06-03 2023-03-15 3295 ENSG00000133835 OTTHUMG00000128899 uc003ksj.4 NM_000414 "CCDS56379|CCDS56378|CCDS93762|CCDS4126|CCDS93763|CCDS93764" P51659 "8938456|19027726" MGI:105089 RGD:621806 601860 122513 "4.2.1.107|1.1.1.35" HGNC:5213 "ENST00000510025.7|NM_000414.4" HGNC:5213 +HGNC:5213 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "MFE-2|DBP|SDR8C1" "17beta-estradiol dehydrogenase type IV|peroxisomal multifunctional protein 2|17-beta-HSD IV|17-beta-hydroxysteroid dehydrogenase 4|D-bifunctional protein, peroxisomal|D-3-hydroxyacyl-CoA dehydratase|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase|beta-keto-reductase|beta-hydroxyacyl dehydrogenase|short chain dehydrogenase/reductase family 8C, member 1" hydroxysteroid (17-beta) dehydrogenase 4 Short chain dehydrogenase/reductase superfamily 743 1994-09-14 2016-06-03 2023-03-15 3295 ENSG00000133835 OTTHUMG00000128899 uc003ksj.4 NM_000414 "CCDS93763|CCDS4126|CCDS56379|CCDS56378|CCDS93762|CCDS93764" P51659 "8938456|19027726" MGI:105089 RGD:621806 601860 122513 "4.2.1.107|1.1.1.35" HGNC:5213 "ENST00000510025.7|NM_000414.4" HGNC:5213 HGNC:23316 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "HSE|RODH|SDR9C6" "oxidative 3-alpha-hydroxysteroid-dehydrogenase|3(alpha->beta)-hydroxysteroid epimerasel|retinol dehydrogenase|oxidoreductase|NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase|3-hydroxysteroid epimerase|short chain dehydrogenase/reductase family 9C, member 6" "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)|hydroxysteroid (17-beta) dehydrogenase 6" Short chain dehydrogenase/reductase superfamily 743 2005-02-23 2016-06-03 2023-01-20 8630 ENSG00000025423 OTTHUMG00000170854 uc058pra.1 AF016509 NM_003725 CCDS8925 O14756 "11165032|19027726" MGI:1351670 RGD:708343 606623 "1.1.1.62|1.1.1.63|1.1.1.105" HGNC:23316 "ENST00000322165.1|NM_003725.4" HGNC:5215 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "PRAP|SDR37C1" short chain dehydrogenase/reductase family 37C, member 1 hydroxysteroid (17-beta) dehydrogenase 7 Short chain dehydrogenase/reductase superfamily 743 2000-07-31 2016-06-03 2023-03-15 51478 ENSG00000132196 OTTHUMG00000034420 uc001gci.4 AF098786 NM_016371 CCDS1242 P56937 "10544267|10419022|19027726" MGI:1330808 RGD:2837 606756 1.1.1.270 HGNC:5215 "ENST00000254521.8|NM_016371.4" HGNC:18689 HSD17B7P1 hydroxysteroid 17-beta dehydrogenase 7 pseudogene 1 pseudogene pseudogene Approved 1q44 01q44 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 1 2002-05-28 2016-06-03 2016-06-03 148818 ENSG00000232908 OTTHUMG00000040197 AJ297815 NG_001308 PGOHUM00000296863 HGNC:18689 HGNC:28120 HSD17B7P2 hydroxysteroid 17-beta dehydrogenase 7 pseudogene 2 pseudogene pseudogene Approved 10p11.1 10p11.1 "HSD17B7|bA291L22.1" hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 2004-01-08 2016-06-03 2023-03-15 158160 ENSG00000099251 OTTHUMG00000017993 NR_003086 10544267 PGOHUM00000290106 HGNC:28120 HGNC:3554 HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "HKE6|D6S2245E|RING2|KE6|H2-KE6|SDR30C1" short chain dehydrogenase/reductase family 30C, member 1 FABGL "FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)|hydroxysteroid (17-beta) dehydrogenase 8" Short chain dehydrogenase/reductase superfamily 743 2000-06-26 2002-02-22 2016-06-03 2023-01-20 7923 ENSG00000204228 OTTHUMG00000031117 uc011izs.3 D82061 NM_014234 CCDS4769 Q92506 "8812499|19027726" MGI:95911 RGD:1303158 601417 1.1.1.62 HGNC:3554 "ENST00000374662.4|NM_014234.5" -HGNC:4800 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "ERAB|MHBD|17b-HSD10|ABAD|SDR5C1|MRPP2|CAMR" "type 10 17b-HSD|type 10 17beta-hydroxysteroid dehydrogenase|AB-binding alcohol dehydrogenase|short chain dehydrogenase/reductase family 5C, member 1|mitochondrial RNase P subunit 2" "HADH2|MRXS10" "hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II|mental retardation, X-linked, syndromic 10|hydroxysteroid (17-beta) dehydrogenase 10" "Short chain dehydrogenase/reductase superfamily|Mitochondrial RNase P complex" "743|1534" 1997-04-25 2006-11-22 2016-06-03 2023-01-20 3028 ENSG00000072506 OTTHUMG00000021612 uc004dsl.2 U96132 NM_004493 "CCDS14354|CCDS35300" Q99714 "9338779|16899120|19027726|18984158|17236142" MGI:1333871 RGD:69231 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HSD17B10|LRG_450|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_450.xml" 300256 122504 1.1.1.35 HGNC:4800 "ENST00000168216.11|NM_004493.3" HGNC:4800 +HGNC:4800 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "ERAB|MHBD|17b-HSD10|ABAD|SDR5C1|MRPP2|CAMR" "type 10 17b-HSD|type 10 17beta-hydroxysteroid dehydrogenase|AB-binding alcohol dehydrogenase|short chain dehydrogenase/reductase family 5C, member 1|mitochondrial RNase P subunit 2" "HADH2|MRXS10" "hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II|mental retardation, X-linked, syndromic 10|hydroxysteroid (17-beta) dehydrogenase 10" "Short chain dehydrogenase/reductase superfamily|Mitochondrial RNase P complex" "743|1534" 1997-04-25 2006-11-22 2016-06-03 2023-01-20 3028 ENSG00000072506 OTTHUMG00000021612 uc004dsl.2 U96132 NM_004493 "CCDS35300|CCDS14354" Q99714 "9338779|16899120|19027726|18984158|17236142" MGI:1333871 RGD:69231 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HSD17B10|LRG_450|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_450.xml" 300256 122504 1.1.1.35 HGNC:4800 "ENST00000168216.11|NM_004493.3" HGNC:4800 HGNC:22960 HSD17B11 hydroxysteroid 17-beta dehydrogenase 11 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "RetSDR2|17-BETA-HSD11|17-BETA-HSDXI|PAN1B|SDR16C2" "retinal short-chain dehydrogenase/reductase 2|short chain dehydrogenase/reductase family 16C, member 2" DHRS8 "dehydrogenase/reductase (SDR family) member 8|hydroxysteroid (17-beta) dehydrogenase 11" Short chain dehydrogenase/reductase superfamily 743 2003-12-02 2006-11-22 2016-06-03 2023-01-20 51170 ENSG00000198189 OTTHUMG00000130594 uc003hqp.3 AF126780 NM_016245 CCDS3619 Q8NBQ5 "11165019|12697717|19027726" MGI:2149821 RGD:1303235 612831 1.1.1.- HGNC:22960 "ENST00000358290.9|NM_016245.5" HGNC:18646 HSD17B12 hydroxysteroid 17-beta dehydrogenase 12 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "KAR|SDR12C1" "3-ketoacyl-CoA reductase|short chain dehydrogenase/reductase family 12C, member 1" hydroxysteroid (17-beta) dehydrogenase 12 Short chain dehydrogenase/reductase superfamily 743 2002-05-20 2016-06-03 2023-01-20 51144 ENSG00000149084 OTTHUMG00000166403 uc001mxq.5 AF078850 NM_016142 CCDS7905 Q53GQ0 "12482854|19027726" MGI:1926967 RGD:708367 609574 1.1.1.62 HGNC:18646 "ENST00000278353.10|NM_016142.3" HGNC:18685 HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "SCDR9|SDR16C3" short chain dehydrogenase/reductase family 16C, member 3 hydroxysteroid (17-beta) dehydrogenase 13 Short chain dehydrogenase/reductase superfamily 743 2002-05-27 2016-06-03 2023-01-20 345275 ENSG00000170509 OTTHUMG00000130602 uc003hqo.3 NM_178135 "CCDS47097|CCDS3618" Q7Z5P4 19027726 MGI:2140804 RGD:1359553 612127 objectId:3222 1.1.-.- HGNC:18685 "ENST00000328546.5|NM_178135.5" HGNC:23238 HSD17B14 hydroxysteroid 17-beta dehydrogenase 14 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "retSDR3|SDR47C1" "retinal short-chain dehydrogenase/reductase 3|short chain dehydrogenase/reductase family 47C, member 1" DHRS10 "dehydrogenase/reductase (SDR family) member 10|hydroxysteroid (17-beta) dehydrogenase 14" Short chain dehydrogenase/reductase superfamily 743 2003-12-02 2006-11-22 2016-06-03 2023-01-20 51171 ENSG00000087076 OTTHUMG00000183328 uc002pkv.2 AF126781 NM_016246 CCDS12736 Q9BPX1 "10800688|17067289|19027726" MGI:1913315 RGD:1588673 612832 HGNC:23238 "ENST00000263278.9|NM_016246.3" -HGNC:16475 HSDL1 hydroxysteroid dehydrogenase like 1 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 SDR12C3 short chain dehydrogenase/reductase family 12C, member 3 Short chain dehydrogenase/reductase superfamily 743 2004-12-15 2023-01-20 83693 ENSG00000103160 OTTHUMG00000137635 uc002fhk.3 AF237684 NM_031463 "CCDS54046|CCDS10942" Q3SXM5 "12153137|19027726" MGI:1919802 RGD:1308433 619067 HGNC:16475 "ENST00000219439.9|NM_031463.5" +HGNC:16475 HSDL1 hydroxysteroid dehydrogenase like 1 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 SDR12C3 short chain dehydrogenase/reductase family 12C, member 3 Short chain dehydrogenase/reductase superfamily 743 2004-12-15 2023-01-20 83693 ENSG00000103160 OTTHUMG00000137635 uc002fhk.3 AF237684 NM_031463 "CCDS10942|CCDS54046" Q3SXM5 "12153137|19027726" MGI:1919802 RGD:1308433 619067 HGNC:16475 "ENST00000219439.9|NM_031463.5" HGNC:18572 HSDL2 hydroxysteroid dehydrogenase like 2 protein-coding gene gene with protein product Approved 9q32 09q32 SDR13C1 short chain dehydrogenase/reductase family 13C, member 1 C9orf99 chromosome 9 open reading frame 99 Short chain dehydrogenase/reductase superfamily 743 2004-11-26 2023-01-20 84263 ENSG00000119471 OTTHUMG00000020504 uc004bga.3 AY093428 NM_032303 "CCDS43864|CCDS56582" Q6YN16 "12834046|19027726" MGI:1919729 RGD:1305387 HGNC:18572 "ENST00000398805.8|NM_032303.5" HGNC:31438 HSDL2-AS1 HSDL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q32 09q32 bA32M23.3 C9orf147 "chromosome 9 open reading frame 147|chromosome 9 putative open reading frame 147" Antisense RNAs 1987 2007-08-02 2021-03-04 2021-03-04 2021-10-06 100133204 ENSG00000230185 OTTHUMG00000020505 uc064vck.1 AK131020 NR_171777 HGNC:31438 HGNC:5224 HSF1 heat shock transcription factor 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 HSTF1 1994-09-12 2023-01-20 3297 ENSG00000185122 OTTHUMG00000174604 uc003zbt.5 M64673 NM_005526 CCDS6419 Q00613 1871105 MGI:96238 RGD:620913 140580 470468 HGNC:5224 "ENST00000528838.6|NM_005526.4" @@ -12247,9 +12248,9 @@ HGNC:29603 HSFX1 heat shock transcription factor family, X-linked 1 protein-codi HGNC:32701 HSFX2 heat shock transcription factor family, X-linked 2 protein-coding gene gene with protein product Approved Xq28 Xq28 2006-04-25 2015-10-02 2023-01-20 100130086 ENSG00000268738 OTTHUMG00000188526 uc022cgk.2 NM_001164415 CCDS48179 Q9UBD0 HGNC:32701 "ENST00000598963.3|NM_001164415.3" HGNC:52395 HSFX3 heat shock transcription factor family, X-linked member 3 protein-coding gene gene with protein product Approved Xq28 Xq28 2017-03-21 2017-03-21 2023-01-20 101928917 ENSG00000283697 OTTHUMG00000022623 NM_001323079 CCDS83499 A0A1B0GWH4 HGNC:52395 "ENST00000431993.4|NM_001323079.3" HGNC:52398 HSFX4 heat shock transcription factor family, X-linked member 4 protein-coding gene gene with protein product Approved Xq28 Xq28 2017-03-21 2023-01-20 101927685 ENSG00000283463 OTTHUMG00000034359 NM_001351114 CCDS87786 A0A1B0GTS1 HGNC:52398 "ENST00000457775.3|NM_001351114.2" -HGNC:18568 HSFY1 heat shock transcription factor Y-linked 1 protein-coding gene gene with protein product Approved Yq11.222 Yq11.222 HSF2L HSFY heat shock transcription factor, Y-linked 2002-05-22 2004-05-26 2018-04-26 2023-03-15 86614 ENSG00000172468 OTTHUMG00000041980 uc004ftr.4 AF332226 NM_152584 "CCDS35475|CCDS14790" Q96LI6 MGI:1918316 400029 HGNC:18568 "ENST00000307393.3|NM_033108.3" +HGNC:18568 HSFY1 heat shock transcription factor Y-linked 1 protein-coding gene gene with protein product Approved Yq11.222 Yq11.222 HSF2L HSFY heat shock transcription factor, Y-linked 2002-05-22 2004-05-26 2018-04-26 2023-03-15 86614 ENSG00000172468 OTTHUMG00000041980 uc004ftr.4 AF332226 NM_152584 "CCDS14790|CCDS35475" Q96LI6 MGI:1918316 400029 HGNC:18568 "ENST00000307393.3|NM_033108.3" HGNC:1846 HSFY1P1 HSFY1 pseudogene 1 pseudogene pseudogene Approved 22q11.1 22q11.1 "HSFYP1|HSFYL1" CECR8 "cat eye syndrome chromosome region, candidate 8|cat eye syndrome chromosome region, candidate 8 (non-protein coding)" 2000-01-31 2010-08-04 2018-04-26 2018-04-26 27437 ENSG00000229027 OTTHUMG00000143727 AY026053 NR_003607 11381032 PGOHUM00000246384 HGNC:1846 -HGNC:23950 HSFY2 heat shock transcription factor Y-linked 2 protein-coding gene gene with protein product Approved Yq11.222 Yq11.222 FLJ25453 2004-05-24 2018-04-26 2023-01-20 159119 ENSG00000169953 OTTHUMG00000041947 uc004ftw.3 AK058182 NM_153716 "CCDS35476|CCDS14791" Q96LI6 12815422 MGI:1918316 RGD:1311885 HGNC:23950 "ENST00000304790.3|NM_153716.2" +HGNC:23950 HSFY2 heat shock transcription factor Y-linked 2 protein-coding gene gene with protein product Approved Yq11.222 Yq11.222 FLJ25453 2004-05-24 2018-04-26 2023-01-20 159119 ENSG00000169953 OTTHUMG00000041947 uc004ftw.3 AK058182 NM_153716 "CCDS14791|CCDS35476" Q96LI6 12815422 MGI:1918316 RGD:1311885 HGNC:23950 "ENST00000304790.3|NM_153716.2" HGNC:37119 HSFY3P heat shock transcription factor Y-linked 3, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 HSFYP2 heat shock transcription factor, Y-linked-like pseudogene 2 2009-07-07 2009-12-16 2018-04-26 2018-04-26 442479 ENSG00000227289 OTTHUMG00000036161 NG_012371 PGOHUM00000233662 HGNC:37119 HGNC:37721 HSFY4P heat shock transcription factor Y-linked 4, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-02-05 2018-04-26 2018-04-26 643987 ENSG00000224482 OTTHUMG00000036537 NG_016562 PGOHUM00000233790 HGNC:37721 HGNC:38789 HSFY5P heat shock transcription factor Y-linked 5, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-08-04 2018-04-26 2018-04-26 106478934 ENSG00000232475 OTTHUMG00000043599 NG_043611 PGOHUM00000233808 HGNC:38789 @@ -12257,7 +12258,7 @@ HGNC:38790 HSFY6P heat shock transcription factor Y-linked 6, pseudogene pseudog HGNC:38791 HSFY7P heat shock transcription factor Y-linked 7, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-08-04 2018-04-26 2018-04-26 106478935 ENSG00000228571 OTTHUMG00000043851 NG_043619 PGOHUM00000234028 HGNC:38791 HGNC:38792 HSFY8P heat shock transcription factor Y-linked 8, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-08-04 2018-04-26 2018-04-26 106480723 ENSG00000233156 OTTHUMG00000045277 NG_043595 PGOHUM00000234096 HGNC:38792 HGNC:24920 HSH2D hematopoietic SH2 domain containing protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "ALX|HSH2|FLJ14886" SH2 domain containing 741 2004-03-31 2023-01-20 84941 ENSG00000196684 OTTHUMG00000182256 uc032hot.2 AK027792 NM_032855 CCDS74304 Q96JZ2 11700021 MGI:2676364 RGD:2321939 608349 HGNC:24920 "ENST00000613986.4|NM_001382417.1" -HGNC:5253 HSP90AA1 heat shock protein 90 alpha family class A member 1 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "Hsp89|Hsp90|FLJ31884|HSP90N" "HSPC1|HSPCA" "heat shock 90kD protein 1, alpha|heat shock 90kDa protein 1, alpha|heat shock protein 90kDa alpha (cytosolic), class A member 1" Heat shock 90kDa proteins 586 1990-06-27 2006-02-24 2016-06-22 2023-01-20 3320 ENSG00000080824 OTTHUMG00000171752 uc001yku.5 M27024 NM_005348 "CCDS9967|CCDS32160" P07900 "2527334|16269234" MGI:96250 RGD:631409 HSP90AA1 140571 ligandId:7752 HGNC:5253 "ENST00000216281.13|NM_005348.4" +HGNC:5253 HSP90AA1 heat shock protein 90 alpha family class A member 1 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "Hsp89|Hsp90|FLJ31884|HSP90N" "HSPC1|HSPCA" "heat shock 90kD protein 1, alpha|heat shock 90kDa protein 1, alpha|heat shock protein 90kDa alpha (cytosolic), class A member 1" Heat shock 90kDa proteins 586 1990-06-27 2006-02-24 2016-06-22 2023-01-20 3320 ENSG00000080824 OTTHUMG00000171752 uc001yku.5 M27024 NM_005348 "CCDS32160|CCDS9967" P07900 "2527334|16269234" MGI:96250 RGD:631409 HSP90AA1 140571 ligandId:7752 HGNC:5253 "ENST00000216281.13|NM_005348.4" HGNC:5256 HSP90AA2P heat shock protein 90 alpha family class A member 2, pseudogene pseudogene pseudogene Approved 11p14.1 11p14.1 "HSPCA|HSP90ALPHA" "HSPCAL3|HSP90AA2" "heat shock 90kD protein 1, alpha-like 3|heat shock 90kDa protein 1, alpha-like 3|heat shock protein 90kDa alpha (cytosolic), class A member 2|heat shock protein 90kDa alpha (cytosolic), class A member 2, pseudogene" 1991-09-17 2014-10-06 2016-06-22 2021-10-07 3324 ENSG00000224411 OTTHUMG00000166183 NG_005856 Q14568 "1740332|16269234" 140575 HGNC:5256 HGNC:5254 HSP90AA3P heat shock protein 90 alpha family class A member 3, pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 HSPCAL1 "heat shock 90kD protein 1, alpha-like 1|heat shock 90kDa protein 1, alpha-like 1|heat shock protein 90kDa alpha (cytosolic), class A member 3, pseudogene" Heat shock 90kDa proteins 586 1991-09-17 2006-02-24 2016-06-22 2020-04-07 3322 ENSG00000231434 OTTHUMG00000019634 NG_005218 "1740332|16269234" PGOHUM00000296599 HGNC:5254 HGNC:5255 HSP90AA4P heat shock protein 90 alpha family class A member 4, pseudogene pseudogene pseudogene Approved 4q35.2 04q35.2 HSPCAL2 "heat shock 90kD protein 1, alpha-like 2|heat shock 90kDa protein 1, alpha-like 2|heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene" 1991-09-17 2006-02-24 2016-06-22 2016-06-22 3323 ENSG00000205100 OTTHUMG00000160204 NG_003014 Q58FG1 "1740332|16269234" HGNC:5255 @@ -12279,7 +12280,7 @@ HGNC:5234 HSPA1L heat shock protein family A (Hsp70) member 1 like protein-codin HGNC:5235 HSPA2 heat shock protein family A (Hsp70) member 2 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "heat shock 70kD protein 2|heat shock 70kDa protein 2" Heat shock 70kDa proteins 583 2001-06-22 2015-11-19 2023-01-20 3306 ENSG00000126803 OTTHUMG00000141311 uc001xhj.4 "L26336|BC001752" NM_001387931 CCDS9766 P54652 MGI:96243 RGD:620664 140560 objectId:2541 HGNC:5235 "ENST00000247207.7|NM_021979.4" HGNC:55433 HSPA2-AS1 HSPA2 and ZBTB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.3 14q23.3 Antisense RNAs 1987 2021-01-08 2021-01-08 102723809 ENSG00000259116 NR_110550 HGNC:5237 HSPA4 heat shock protein family A (Hsp70) member 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "HS24/P52|HSPH2" hsp70 RY "heat shock 70kD protein 4|heat shock 70kDa protein 4" Heat shock 70kDa proteins 583 1991-07-26 2015-11-19 2023-01-20 3308 ENSG00000170606 OTTHUMG00000129012 uc003kyj.4 AB023420 "NM_002154|NM_198431" CCDS4166 P34932 8335910 MGI:1342292 RGD:628878 601113 470472 HGNC:5237 "ENST00000304858.7|NM_002154.4" -HGNC:17041 HSPA4L heat shock protein family A (Hsp70) member 4 like protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "APG-1|Osp94|HSPH3" heat shock 70kDa protein 4-like Heat shock 70kDa proteins 583 2004-11-26 2015-11-19 2023-01-20 22824 ENSG00000164070 OTTHUMG00000133302 uc003ifm.4 AB023421 NM_014278 "CCDS3734|CCDS82953" O95757 10524232 MGI:107422 RGD:1306528 619077 HGNC:17041 "ENST00000296464.9|NM_014278.4" +HGNC:17041 HSPA4L heat shock protein family A (Hsp70) member 4 like protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "APG-1|Osp94|HSPH3" heat shock 70kDa protein 4-like Heat shock 70kDa proteins 583 2004-11-26 2015-11-19 2023-01-20 22824 ENSG00000164070 OTTHUMG00000133302 uc003ifm.4 AB023421 NM_014278 "CCDS82953|CCDS3734" O95757 10524232 MGI:107422 RGD:1306528 619077 HGNC:17041 "ENST00000296464.9|NM_014278.4" HGNC:5238 HSPA5 heat shock protein family A (Hsp70) member 5 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 BiP glucose-regulated protein, 78kDa GRP78 "heat shock 70kD protein 5 (glucose-regulated protein, 78kD)|heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)" Heat shock 70kDa proteins 583 1991-07-26 2015-11-19 2023-01-20 3309 ENSG00000044574 OTTHUMG00000020672 uc004bpn.4 NM_005347 CCDS6863 P11021 MGI:95835 RGD:2843 138120 objectId:3193 HGNC:5238 "ENST00000324460.7|NM_005347.5" HGNC:55645 HSPA5-DT HSPA5 divergent transcript non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 Divergent transcripts 1990 2021-06-25 2021-06-25 107987127 ENSG00000239705 HGNC:54532 HSPA5P1 HSPA5 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 2019-10-11 2020-01-21 400750 ENSG00000215895 NG_022776 HGNC:54532 @@ -12311,7 +12312,7 @@ HGNC:24915 HSPA9P1 heat shock protein family A (Hsp70) member 9 pseudogene 1 pse HGNC:31733 HSPA9P2 heat shock protein family A (Hsp70) member 9 pseudogene 2 pseudogene pseudogene Approved 18q12.1 18q12.1 heat shock 70kDa protein 9 pseudogene 2 2010-06-17 2015-11-19 2015-11-19 100873903 NG_032192 PGOHUM00000234911 HGNC:31733 HGNC:19022 HSPA12A heat shock protein family A (Hsp70) member 12A protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ13874|KIAA0417" "heat shock 70kD protein 12A|heat shock 70kDa protein 12A" Heat shock 70kDa proteins 583 2002-08-06 2015-11-19 2023-01-20 259217 ENSG00000165868 OTTHUMG00000019107 uc001lct.3 AB007877 NM_025015 "CCDS81511|CCDS41569" O43301 12552099 MGI:1920692 RGD:1305531 610701 HGNC:19022 "ENST00000369209.8|NM_025015.3" HGNC:55721 HSPA12A-AS1 HSPA12A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.3 10q25.3 Antisense RNAs 1987 2021-07-13 2021-07-13 105378499 ENSG00000232767 XR_007062300 -HGNC:16193 HSPA12B heat shock protein family A (Hsp70) member 12B protein-coding gene gene with protein product Approved 20p13 20p13 dJ1009E24.2 C20orf60 "chromosome 20 open reading frame 60|heat shock 70kD protein 12B" Heat shock 70kDa proteins 583 2001-07-17 2003-04-10 2015-11-19 2023-01-20 116835 ENSG00000132622 OTTHUMG00000031755 uc002wjd.4 AK056712 NM_052970 "CCDS13061|CCDS82596" Q96MM6 12552099 MGI:1919880 RGD:1312004 610702 HGNC:16193 "ENST00000254963.7|NM_052970.5" +HGNC:16193 HSPA12B heat shock protein family A (Hsp70) member 12B protein-coding gene gene with protein product Approved 20p13 20p13 dJ1009E24.2 C20orf60 "chromosome 20 open reading frame 60|heat shock 70kD protein 12B" Heat shock 70kDa proteins 583 2001-07-17 2003-04-10 2015-11-19 2023-01-20 116835 ENSG00000132622 OTTHUMG00000031755 uc002wjd.4 AK056712 NM_052970 "CCDS82596|CCDS13061" Q96MM6 12552099 MGI:1919880 RGD:1312004 610702 HGNC:16193 "ENST00000254963.7|NM_052970.5" HGNC:11375 HSPA13 heat shock protein family A (Hsp70) member 13 protein-coding gene gene with protein product Approved 21q11.2 21q11.2 STCH "stress 70 protein chaperone, microsome-associated, 60kD|stress 70 protein chaperone, microsome-associated, 60kDa|heat shock protein 70kDa family, member 13" Heat shock 70kDa proteins 583 1997-03-21 2008-06-17 2015-11-19 2023-01-20 6782 ENSG00000155304 OTTHUMG00000074261 uc002yjt.4 NM_006948 CCDS13567 P48723 8825657 MGI:1309463 RGD:3775 601100 HGNC:11375 "ENST00000285667.4|NM_006948.5" HGNC:29526 HSPA14 heat shock protein family A (Hsp70) member 14 protein-coding gene gene with protein product Approved 10p13 10p13 "HSP70-4|HSP70L1" heat shock 70kDa protein 14 Heat shock 70kDa proteins 583 2004-04-20 2015-11-19 2023-03-15 51182 ENSG00000187522 OTTHUMG00000191882 uc001inf.5 AF112210 NM_016299 CCDS7103 Q0VDF9 21208456 MGI:1354164 RGD:1303296 610369 HGNC:29526 "ENST00000378372.8|NM_016299.4" HGNC:5246 HSPB1 heat shock protein family B (small) member 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "HSP27|HSP28|Hs.76067|Hsp25|CMT2F" "heat shock 27kD protein 1|heat shock 27kDa protein 1" Small heat shock proteins 585 1991-07-09 2015-11-19 2023-01-20 3315 ENSG00000106211 OTTHUMG00000023228 uc003uew.4 X54079 NM_001540 CCDS5583 P04792 "2243808|9344682" MGI:96240 RGD:61306 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_248|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_248.xml" 602195 122526 HGNC:5246 "ENST00000248553.7|NM_001540.5" HGNC:5246 @@ -12321,7 +12322,7 @@ HGNC:5247 HSPB2 heat shock protein family B (small) member 2 protein-coding gene HGNC:41996 HSPB2-C11orf52 HSPB2-C11orf52 readthrough (NMD candidate) other readthrough Approved 11q23.1 11q23.1 2011-05-31 2013-05-09 2014-11-18 100528019 ENSG00000254445 OTTHUMG00000166887 uc058hgl.1 NR_037651.1 HGNC:41996 HGNC:5248 HSPB3 heat shock protein family B (small) member 3 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 HSPL27 "heat shock 27kD protein 3|heat shock 27kDa protein 3" Small heat shock proteins 585 1999-01-15 2015-11-19 2023-01-20 8988 ENSG00000169271 OTTHUMG00000096995 uc003jph.2 Y17782 NM_006308 CCDS3961 Q12988 "8972725|9858786" MGI:1928479 RGD:68345 604624 227387 HGNC:5248 "ENST00000302005.3|NM_006308.3" HGNC:5248 HGNC:26511 HSPB6 heat shock protein family B (small) member 6 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ32389|Hsp20|PPP1R91" protein phosphatase 1, regulatory subunit 91 heat shock protein, alpha-crystallin-related, B6 "Small heat shock proteins|Protein phosphatase 1 regulatory subunits" "585|694" 2004-05-12 2015-11-25 2023-01-20 126393 ENSG00000004776 OTTHUMG00000048122 uc060xio.1 AJ278121 NM_144617 CCDS12475 O14558 "12820654|14717697" MGI:2685325 RGD:621554 610695 HGNC:26511 "ENST00000004982.6|NM_144617.3" -HGNC:5249 HSPB7 heat shock protein family B (small) member 7 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 cvHSP "heat shock 27kD protein family, member 7 (cardiovascular)|heat shock 27kDa protein family, member 7 (cardiovascular)" Small heat shock proteins 585 2000-01-26 2015-11-19 2023-01-20 27129 ENSG00000173641 OTTHUMG00000009531 uc001axo.2 AF155908 NM_014424 "CCDS30611|CCDS85932|CCDS85931|CCDS85933|CCDS85934" Q9UBY9 10593960 MGI:1352494 RGD:62021 610692 470478 HGNC:5249 "ENST00000311890.14|NM_014424.5" +HGNC:5249 HSPB7 heat shock protein family B (small) member 7 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 cvHSP "heat shock 27kD protein family, member 7 (cardiovascular)|heat shock 27kDa protein family, member 7 (cardiovascular)" Small heat shock proteins 585 2000-01-26 2015-11-19 2023-01-20 27129 ENSG00000173641 OTTHUMG00000009531 uc001axo.2 AF155908 NM_014424 "CCDS30611|CCDS85933|CCDS85931|CCDS85932|CCDS85934" Q9UBY9 10593960 MGI:1352494 RGD:62021 610692 470478 HGNC:5249 "ENST00000311890.14|NM_014424.5" HGNC:30171 HSPB8 heat shock protein family B (small) member 8 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "H11|E2IG1|HSP22|CMT2L" "heat shock 27kDa protein 8|heat shock 22kDa protein 8" Small heat shock proteins 585 2004-01-29 2015-11-19 2023-01-20 26353 ENSG00000152137 OTTHUMG00000168932 uc001txb.4 AF191017 NM_014365 CCDS9189 Q9UJY1 "10833516|11085516" MGI:2135756 RGD:71003 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_249|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_249.xml" 608014 122532 HGNC:30171 "ENST00000281938.7|NM_014365.3" HGNC:30171 HGNC:30589 HSPB9 heat shock protein family B (small) member 9 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 CT51 cancer/testis antigen 51 heat shock protein, alpha-crystallin-related, B9 Small heat shock proteins 585 2004-05-12 2015-11-19 2023-01-20 94086 ENSG00000260325 OTTHUMG00000133500 uc002hyy.3 AJ302068 NM_033194 CCDS11418 Q9BQS6 "11470154|12820654" MGI:1922732 RGD:1309122 608344 HGNC:30589 "ENST00000565659.2|NM_033194.3" HGNC:16389 HSPBAP1 HSPB1 associated protein 1 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "FLJ22623|PASS1" HSPB (heat shock 27kDa) associated protein 1 Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2001-08-28 2016-01-26 2023-01-20 79663 ENSG00000169087 OTTHUMG00000159550 uc003efu.3 AF400663 NM_024610 CCDS3017 Q96EW2 11978969 MGI:1913917 RGD:620870 608263 122538 HGNC:16389 "ENST00000306103.3|NM_024610.6" @@ -12380,14 +12381,14 @@ HGNC:49345 HSPE1P26 heat shock protein family E (Hsp10) member 1 pseudogene 26 p HGNC:49346 HSPE1P27 heat shock protein family E (Hsp10) member 1 pseudogene 27 pseudogene pseudogene Approved 1p36.12 01p36.12 heat shock 10kDa protein 1 pseudogene 27 2013-10-18 2015-11-19 2015-11-19 106480261 ENSG00000235112 OTTHUMG00000002776 NG_047026 HGNC:49346 HGNC:49347 HSPE1P28 heat shock protein family E (Hsp10) member 1 pseudogene 28 pseudogene pseudogene Approved 9q32 09q32 heat shock 10kDa protein 1 pseudogene 28 2013-10-18 2015-11-19 2015-11-19 171420 ENSG00000230081 OTTHUMG00000020501 NG_001325 HGNC:49347 HGNC:5273 HSPG2 heparan sulfate proteoglycan 2 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "perlecan|PRCAN" "perlecan proteoglycan|endorepellin" SJS1 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) "Proteoglycans|I-set domain containing" "570|593" 1991-02-27 2007-02-16 2007-02-16 2023-01-20 3339 ENSG00000142798 OTTHUMG00000002674 uc001bfj.4 M85289 NM_005529 CCDS30625 P98160 "1685141|11941538" MGI:96257 RGD:621770 142461 122547 HGNC:5273 "ENST00000374695.8|NM_005529.7" HGNC:5273 -HGNC:16969 HSPH1 heat shock protein family H (Hsp110) member 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "HSP105B|KIAA0201|HSP105A|NY-CO-25" heat shock 105kDa/110kDa protein 1 Heat shock 70kDa proteins 583 2003-02-19 2015-11-19 2023-01-20 10808 ENSG00000120694 OTTHUMG00000016685 uc001utj.5 AB003333 NM_001286503 "CCDS66526|CCDS9340|CCDS73559|CCDS66525" Q92598 "9610721|9931472" MGI:105053 RGD:1311609 610703 470480 HGNC:16969 "ENST00000320027.10|NM_006644.4" -HGNC:16637 HTATIP2 HIV-1 Tat interactive protein 2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "TIP30|CC3|FLJ26963|SDR44U1" "Tat-interacting protein (30kD)|short chain dehydrogenase/reductase family 44U, member 1" "HIV-1 Tat interactive protein 2, 30 kDa|HIV-1 Tat interactive protein 2, 30kDa" Short chain dehydrogenase/reductase superfamily 743 2001-09-21 2015-11-09 2023-01-20 10553 ENSG00000109854 OTTHUMG00000166015 uc001mpz.3 AF039103 NM_001098521 "CCDS44553|CCDS53613|CCDS7852" Q9BUP3 "9482853|9174052|19027726" MGI:1859271 RGD:1309941 605628 1.1.1.- HGNC:16637 "ENST00000451739.7|NM_001098522.2" +HGNC:16969 HSPH1 heat shock protein family H (Hsp110) member 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "HSP105B|KIAA0201|HSP105A|NY-CO-25" heat shock 105kDa/110kDa protein 1 Heat shock 70kDa proteins 583 2003-02-19 2015-11-19 2023-01-20 10808 ENSG00000120694 OTTHUMG00000016685 uc001utj.5 AB003333 NM_001286503 "CCDS9340|CCDS73559|CCDS66526|CCDS66525" Q92598 "9610721|9931472" MGI:105053 RGD:1311609 610703 470480 HGNC:16969 "ENST00000320027.10|NM_006644.4" +HGNC:16637 HTATIP2 HIV-1 Tat interactive protein 2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "TIP30|CC3|FLJ26963|SDR44U1" "Tat-interacting protein (30kD)|short chain dehydrogenase/reductase family 44U, member 1" "HIV-1 Tat interactive protein 2, 30 kDa|HIV-1 Tat interactive protein 2, 30kDa" Short chain dehydrogenase/reductase superfamily 743 2001-09-21 2015-11-09 2023-01-20 10553 ENSG00000109854 OTTHUMG00000166015 uc001mpz.3 AF039103 NM_001098521 "CCDS7852|CCDS53613|CCDS44553" Q9BUP3 "9482853|9174052|19027726" MGI:1859271 RGD:1309941 605628 1.1.1.- HGNC:16637 "ENST00000451739.7|NM_001098522.2" HGNC:5276 HTATSF1 HIV-1 Tat specific factor 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 TAT-SF1 HIV TAT specific factor 1 RNA binding motif containing 725 2000-07-25 2006-01-09 2023-01-20 27336 ENSG00000102241 OTTHUMG00000022510 uc004ezw.4 U76992 NM_014500 CCDS14657 O43719 8849451 MGI:1919709 RGD:1563377 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HTATSF1 300346 HGNC:5276 "ENST00000218364.5|NM_014500.5" HGNC:13959 HTATSF1P1 HIV-1 Tat specific factor 1 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 "TAT-SF1-L|dJ1033B10.6" HTATSF1P "HIV TAT specific factor 1 pseudogene|HIV-1 Tat specific factor 1 pseudogene" 2003-11-26 2010-06-21 2010-06-21 2015-02-09 387039 ENSG00000223457 OTTHUMG00000031101 PGOHUM00000301764 HGNC:38586 HTATSF1P2 HIV-1 Tat specific factor 1 pseudogene 2 pseudogene pseudogene Approved 6p25.2 06p25.2 2010-06-22 2018-02-02 401233 ENSG00000271361 OTTHUMG00000184550 NG_030001 PGOHUM00000243042 HGNC:38586 HGNC:53111 HTD2 hydroxyacyl-thioester dehydratase type 2 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 2017-02-09 2023-01-20 109703458 ENSG00000255154 OTTHUMG00000166318 NM_001348712 CCDS87096 P86397 17898086 RGD:41186814 4.2.1.- HGNC:53111 "ENST00000461393.7|NM_001348712.2" -HGNC:5283 HTN1 histatin 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 HIS1 Histatins and statherin 971 1990-04-09 2023-01-20 3346 ENSG00000126550 OTTHUMG00000129397 uc003hex.4 NM_001368990 CCDS3534 P15515 142701 HGNC:5283 "ENST00000246896.8|NM_002159.4" -HGNC:5284 HTN3 histatin 3 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 HIS2 Histatins and statherin 971 1990-09-10 2023-01-20 3347 ENSG00000205649 OTTHUMG00000160841 uc003hew.2 NM_000200 CCDS33999 P15516 142702 HGNC:5284 "ENST00000673563.1|NM_000200.3" +HGNC:5283 HTN1 histatin 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 HIS1 "Histatins and statherin|Secretory calcium-binding phosphoprotein family" "971|2245" 1990-04-09 2023-01-20 3346 ENSG00000126550 OTTHUMG00000129397 uc003hex.4 NM_001368990 CCDS3534 P15515 142701 HGNC:5283 "ENST00000246896.8|NM_002159.4" +HGNC:5284 HTN3 histatin 3 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 HIS2 "Histatins and statherin|Secretory calcium-binding phosphoprotein family" "971|2245" 1990-09-10 2023-01-20 3347 ENSG00000205649 OTTHUMG00000160841 uc003hew.2 NM_000200 CCDS33999 P15516 142702 HGNC:5284 "ENST00000673563.1|NM_000200.3" HGNC:5285 HTOR 5-hydroxytryptamine (serotonin) oxygenase regulator other unknown Approved 21 21 2001-06-22 2019-06-26 3349 93675 143460 HGNC:5286 HTR1A 5-hydroxytryptamine receptor 1A protein-coding gene gene with protein product Approved 5q12.3 05q12.3 5-HT1A "ADRB2RL1|ADRBRL1" "5-hydroxytryptamine (serotonin) receptor 1A|5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1986-01-01 2016-02-04 2023-01-20 3350 ENSG00000178394 OTTHUMG00000162279 uc011cqt.4 AF498978 NM_000524 CCDS34168 P08908 "2591972|12969265" MGI:96273 RGD:2845 109760 objectId:1 HGNC:5286 "ENST00000323865.5|NM_000524.4" HGNC:5286 HGNC:5287 HTR1B 5-hydroxytryptamine receptor 1B protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "S12|5-HT1B|HTR1D2|5-HT1DB" "5-hydroxytryptamine (serotonin) receptor 1B|5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1992-06-12 2016-02-04 2023-01-20 3351 ENSG00000135312 OTTHUMG00000015066 uc003pil.2 BC069065 NM_000863 CCDS4986 P28222 "1348246|11247661" MGI:96274 RGD:2846 182131 objectId:2 HGNC:5287 "ENST00000369947.5|NM_000863.3" @@ -12395,27 +12396,27 @@ HGNC:5289 HTR1D 5-hydroxytryptamine receptor 1D protein-coding gene gene with pr HGNC:5290 HTR1DP1 5-hydroxytryptamine receptor 1D pseudogene 1 pseudogene pseudogene Approved 12p13.33 12p13.33 5-hydroxytryptamine (serotonin) receptor 1D pseudogene 1 1993-06-08 2016-02-04 2016-10-11 100421479 ENSG00000275811 OTTHUMG00000187789 NG_023961 8444354 PGOHUM00000239288 HGNC:5290 HGNC:5291 HTR1E 5-hydroxytryptamine receptor 1E protein-coding gene gene with protein product Approved 6q14.3 06q14.3 5-HT1E "5-hydroxytryptamine (serotonin) receptor 1E|5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1992-09-01 2016-02-04 2023-01-20 3354 ENSG00000168830 OTTHUMG00000015154 uc003pli.4 NM_000865 CCDS5006 P28566 1608964 182132 objectId:4 HGNC:5291 "ENST00000305344.7|NM_000865.3" HGNC:5292 HTR1F 5-hydroxytryptamine receptor 1F protein-coding gene gene with protein product Approved 3p12 03p12 "HTR1EL|5-HT1F" "5-hydroxytryptamine (serotonin) receptor 1F|5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1993-05-26 2016-02-04 2023-01-20 3355 ENSG00000179097 OTTHUMG00000159008 uc062lsi.1 L05597 NM_000866 CCDS2920 P30939 "8384716|8380639" MGI:99842 RGD:71083 182134 objectId:5 HGNC:5292 "ENST00000319595.7|NM_001322209.2" -HGNC:5293 HTR2A 5-hydroxytryptamine receptor 2A protein-coding gene gene with protein product Approved 13q14.2 13q14.2 5-HT2A HTR2 "5-hydroxytryptamine (serotonin) receptor 2A|5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1990-08-03 2016-02-04 2023-01-20 3356 ENSG00000102468 OTTHUMG00000016881 uc010acr.5 X57830 NM_000621 "CCDS53867|CCDS9405" P28223 8035173 MGI:109521 RGD:61800 LRG_1008|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1008.xml 182135 objectId:6 HGNC:5293 "ENST00000542664.4|NM_000621.5" +HGNC:5293 HTR2A 5-hydroxytryptamine receptor 2A protein-coding gene gene with protein product Approved 13q14.2 13q14.2 5-HT2A HTR2 "5-hydroxytryptamine (serotonin) receptor 2A|5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1990-08-03 2016-02-04 2023-01-20 3356 ENSG00000102468 OTTHUMG00000016881 uc010acr.5 X57830 NM_000621 "CCDS9405|CCDS53867" P28223 8035173 MGI:109521 RGD:61800 LRG_1008|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1008.xml 182135 objectId:6 HGNC:5293 "ENST00000542664.4|NM_000621.5" HGNC:40289 HTR2A-AS1 HTR2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 HTR2A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874082 ENSG00000224517 OTTHUMG00000016880 uc032aen.2 NR_046612 HTR2A-AS1 HGNC:40289 HGNC:5294 HTR2B 5-hydroxytryptamine receptor 2B protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "5-HT(2B)|5-HT2B" "5-hydroxytryptamine (serotonin) receptor 2B|5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1994-07-05 2016-02-04 2023-01-20 3357 ENSG00000135914 OTTHUMG00000133222 uc002vro.4 NM_000867 CCDS2483 P41595 8143856 MGI:109323 RGD:61801 601122 objectId:7 HGNC:5294 "ENST00000258400.4|NM_000867.5" -HGNC:5295 HTR2C 5-hydroxytryptamine receptor 2C protein-coding gene gene with protein product Approved Xq23 Xq23 "5-HT2C|5HTR2C" HTR1C "5-hydroxytryptamine (serotonin) receptor 2C|5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled" "5-hydroxytryptamine receptors, G protein-coupled|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "170|1691|1835" 1994-08-29 2016-02-04 2023-01-20 3358 ENSG00000147246 OTTHUMG00000022226 uc004epu.1 NM_000868 "CCDS59174|CCDS14564" P28335 7895773 MGI:96281 RGD:2848 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HTR2C|LRG_1009|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1009.xml" 312861 objectId:8 HGNC:5295 "ENST00000276198.6|NM_000868.4" -HGNC:5297 HTR3A 5-hydroxytryptamine receptor 3A protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "5-HT3R|5-HT3A" HTR3 "5-hydroxytryptamine (serotonin) receptor 3A|5-hydroxytryptamine (serotonin) receptor 3A, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 1994-06-16 2016-02-04 2023-01-20 3359 ENSG00000166736 OTTHUMG00000160494 uc010rxc.3 D49394 NM_000869 "CCDS8365|CCDS53710|CCDS8366" P46098 "8530095|12867984" MGI:96282 RGD:61818 University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3A 182139 objectId:373 HGNC:5297 "ENST00000504030.7|NM_000869.6" +HGNC:5295 HTR2C 5-hydroxytryptamine receptor 2C protein-coding gene gene with protein product Approved Xq23 Xq23 "5-HT2C|5HTR2C" HTR1C "5-hydroxytryptamine (serotonin) receptor 2C|5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled" "5-hydroxytryptamine receptors, G protein-coupled|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "170|1691|1835" 1994-08-29 2016-02-04 2023-01-20 3358 ENSG00000147246 OTTHUMG00000022226 uc004epu.1 NM_000868 "CCDS14564|CCDS59174" P28335 7895773 MGI:96281 RGD:2848 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HTR2C|LRG_1009|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1009.xml" 312861 objectId:8 HGNC:5295 "ENST00000276198.6|NM_000868.4" +HGNC:5297 HTR3A 5-hydroxytryptamine receptor 3A protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "5-HT3R|5-HT3A" HTR3 "5-hydroxytryptamine (serotonin) receptor 3A|5-hydroxytryptamine (serotonin) receptor 3A, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 1994-06-16 2016-02-04 2023-01-20 3359 ENSG00000166736 OTTHUMG00000160494 uc010rxc.3 D49394 NM_000869 "CCDS8366|CCDS8365|CCDS53710" P46098 "8530095|12867984" MGI:96282 RGD:61818 University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3A 182139 objectId:373 HGNC:5297 "ENST00000504030.7|NM_000869.6" HGNC:5298 HTR3B 5-hydroxytryptamine receptor 3B protein-coding gene gene with protein product Approved 11q23.2 11q23.2 5-HT3B "5-hydroxytryptamine (serotonin) receptor 3B|5-hydroxytryptamine (serotonin) receptor 3B, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 1999-12-21 2016-02-04 2023-01-20 9177 ENSG00000149305 OTTHUMG00000168210 uc001pok.4 AF080582 NM_006028 "CCDS8364|CCDS86249" O95264 "9950429|10521471" MGI:1861899 RGD:61820 University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3B 604654 objectId:374 HGNC:5298 "ENST00000260191.8|NM_006028.5" HGNC:24003 HTR3C 5-hydroxytryptamine receptor 3C protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "5-hydroxytryptamine (serotonin) receptor 3, family member C|5-hydroxytryptamine (serotonin) receptor 3C, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 2004-07-12 2016-02-04 2023-01-20 170572 ENSG00000178084 OTTHUMG00000156862 uc003fmk.4 AF459285 NM_130770 CCDS3250 Q8WXA8 "12801637|15157181" University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3C 610121 objectId:375 HGNC:24003 "ENST00000318351.2|NM_130770.3" HGNC:53986 HTR3C2P 5-hydroxytryptamine receptor 3C2, pseudogene pseudogene pseudogene Approved 3q27.1 03q27.1 5-HT3C2 2018-08-17 2018-08-17 389180 ENSG00000233576 OTTHUMG00000156860 NG_005672 PGOHUM00000299683 HGNC:53986 -HGNC:24004 HTR3D 5-hydroxytryptamine receptor 3D protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "5-hydroxytryptamine (serotonin) receptor 3 family member D|5-hydroxytryptamine (serotonin) receptor 3D, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 2004-07-13 2016-02-04 2023-01-20 200909 ENSG00000186090 OTTHUMG00000156858 uc003fmj.3 AY159812 NM_182537 "CCDS46966|CCDS93429|CCDS54685|CCDS3249" Q70Z44 12801637 University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3D 610122 objectId:376 HGNC:24004 "ENST00000428798.7|NM_001145143.1" -HGNC:24005 HTR3E 5-hydroxytryptamine receptor 3E protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "5-hydroxytryptamine (serotonin) receptor 3, family member E|5-hydroxytryptamine (serotonin) receptor 3E, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 2004-07-12 2016-02-04 2023-01-20 285242 ENSG00000186038 OTTHUMG00000156857 uc003fmm.3 AY159813 NM_182589 "CCDS58869|CCDS58871|CCDS58870|CCDS58868|CCDS3251" A5X5Y0 "12801637|15157181" University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3E 610123 objectId:377 HGNC:24005 "ENST00000415389.6|NM_001256613.2" +HGNC:24004 HTR3D 5-hydroxytryptamine receptor 3D protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "5-hydroxytryptamine (serotonin) receptor 3 family member D|5-hydroxytryptamine (serotonin) receptor 3D, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 2004-07-13 2016-02-04 2023-01-20 200909 ENSG00000186090 OTTHUMG00000156858 uc003fmj.3 AY159812 NM_182537 "CCDS46966|CCDS93429|CCDS3249|CCDS54685" Q70Z44 12801637 University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3D 610122 objectId:376 HGNC:24004 "ENST00000428798.7|NM_001145143.1" +HGNC:24005 HTR3E 5-hydroxytryptamine receptor 3E protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "5-hydroxytryptamine (serotonin) receptor 3, family member E|5-hydroxytryptamine (serotonin) receptor 3E, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 2004-07-12 2016-02-04 2023-01-20 285242 ENSG00000186038 OTTHUMG00000156857 uc003fmm.3 AY159813 NM_182589 "CCDS58868|CCDS58870|CCDS58871|CCDS58869|CCDS3251" A5X5Y0 "12801637|15157181" University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3E 610123 objectId:377 HGNC:24005 "ENST00000415389.6|NM_001256613.2" HGNC:41032 HTR3E-AS1 HTR3E antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 HTR3E antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 106478970 ENSG00000238020 OTTHUMG00000156861 uc062qqn.1 NR_133658 HTR3E-AS1 HGNC:41032 -HGNC:5299 HTR4 5-hydroxytryptamine receptor 4 protein-coding gene gene with protein product Approved 5q32 05q32 5-HT4 "5-hydroxytryptamine (serotonin) receptor 4|5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1997-07-22 2016-02-04 2023-03-15 3360 ENSG00000164270 OTTHUMG00000129931 uc003lpn.5 Y08756 NM_000870 "CCDS34272|CCDS75353|CCDS34273|CCDS34271|CCDS34270|CCDS4291" Q13639 "9371406|9276448" MGI:109246 RGD:2850 602164 objectId:9 HGNC:5299 "ENST00000377888.8|NM_000870.7" +HGNC:5299 HTR4 5-hydroxytryptamine receptor 4 protein-coding gene gene with protein product Approved 5q32 05q32 5-HT4 "5-hydroxytryptamine (serotonin) receptor 4|5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1997-07-22 2016-02-04 2023-03-15 3360 ENSG00000164270 OTTHUMG00000129931 uc003lpn.5 Y08756 NM_000870 "CCDS34271|CCDS4291|CCDS34270|CCDS34272|CCDS34273|CCDS75353" Q13639 "9371406|9276448" MGI:109246 RGD:2850 602164 objectId:9 HGNC:5299 "ENST00000377888.8|NM_000870.7" HGNC:5300 HTR5A 5-hydroxytryptamine receptor 5A protein-coding gene gene with protein product Approved 7q36.2 07q36.2 5-HT5A "5-hydroxytryptamine (serotonin) receptor 5A|5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1995-07-06 2016-02-04 2023-01-20 3361 ENSG00000157219 OTTHUMG00000151327 uc003wlu.3 NM_024012 CCDS5936 P47898 7988681 MGI:96283 RGD:2851 LRG_1057|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1057.xml 601305 objectId:10 HGNC:5300 "ENST00000287907.3|NM_024012.4" HGNC:48956 HTR5A-AS1 HTR5A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.2 07q36.2 HTR5AOS HTR5A opposite strand Antisense RNAs 1987 2013-07-23 2014-10-03 2014-10-03 2014-10-03 100128264 ENSG00000220575 OTTHUMG00000151326 "BC031272|BC045795" NR_038945 HTR5A-AS1 HGNC:48956 HGNC:16291 HTR5BP 5-hydroxytryptamine receptor 5B, pseudogene pseudogene pseudogene Approved 2q14.1 02q14.1 5-HT5B "GPR134|HTR5B" "G protein-coupled receptor 134|5-hydroxytryptamine (serotonin) receptor 5B|5-hydroxytryptamine (serotonin) receptor 5B, pseudogene" 5-hydroxytryptamine receptors, G protein-coupled 170 2001-07-20 2011-05-04 2016-02-04 2020-04-20 645694 ENSG00000125631 OTTHUMG00000058516 AB065453 NG_008325 PGOHUM00000240882 objectId:648 HGNC:16291 HGNC:5301 HTR6 5-hydroxytryptamine receptor 6 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "5-HT6|5-HT6R" "5-hydroxytryptamine (serotonin) receptor 6|5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1997-12-11 2016-02-04 2023-01-20 3362 ENSG00000158748 OTTHUMG00000002713 uc001bcl.5 L41147 NM_000871 CCDS197 P50406 8522988 MGI:1196627 RGD:62044 601109 objectId:11 HGNC:5301 "ENST00000289753.2|NM_000871.3" -HGNC:5302 HTR7 5-hydroxytryptamine receptor 7 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 5-HT7 "5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)|5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1994-05-18 2016-02-04 2023-01-20 3363 ENSG00000148680 OTTHUMG00000018732 uc001kgz.4 BC047526 NM_000872 "CCDS7408|CCDS7410|CCDS7409" P34969 8226867 MGI:99841 RGD:71034 182137 objectId:12 HGNC:5302 "ENST00000336152.8|NM_019859.4" +HGNC:5302 HTR7 5-hydroxytryptamine receptor 7 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 5-HT7 "5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)|5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1994-05-18 2016-02-04 2023-01-20 3363 ENSG00000148680 OTTHUMG00000018732 uc001kgz.4 BC047526 NM_000872 "CCDS7409|CCDS7408|CCDS7410" P34969 8226867 MGI:99841 RGD:71034 182137 objectId:12 HGNC:5302 "ENST00000336152.8|NM_019859.4" HGNC:30411 HTR7P1 5-hydroxytryptamine receptor 7 pseudogene 1 pseudogene pseudogene Approved 12p13.1 12p13.1 HTR7P "5-hydroxytryptamine (serotonin) receptor 7 pseudogene|5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1" 2006-01-20 2010-03-22 2016-02-04 2016-02-04 93164 ENSG00000183935 OTTHUMG00000167959 U86813 NR_002774 9473718 PGOHUM00000239681 HGNC:30411 HGNC:9476 HTRA1 HtrA serine peptidase 1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "HtrA|IGFBP5-protease|ARMD7" PRSS11 protease, serine, 11 (IGF binding) "Serine proteases|PDZ domain containing" "738|1220" 1997-07-25 2005-08-18 2005-08-18 2023-01-20 5654 ENSG00000166033 OTTHUMG00000019186 uc001lgj.2 AF097709 NM_002775 CCDS7630 Q92743 8977104 MGI:1929076 RGD:69235 602194 138706 S01.277 objectId:3194 HGNC:9476 "ENST00000368984.8|NM_002775.5" HGNC:9476 -HGNC:14348 HTRA2 HtrA serine peptidase 2 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "OMI|PARK13" PRSS25 protease, serine, 25 "Serine proteases|PDZ domain containing" "738|1220" 2001-09-26 2005-08-19 2005-08-19 2023-01-20 27429 ENSG00000115317 OTTHUMG00000129957 uc002smi.2 NM_013247 "CCDS92785|CCDS92786|CCDS1951|CCDS1952" O43464 "10644717|10971580" MGI:1928676 RGD:1308906 606441 122552 S01.278 HGNC:14348 "ENST00000258080.8|NM_013247.5" HGNC:14348 -HGNC:30406 HTRA3 HtrA serine peptidase 3 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "Tasp|Prsp" pregnancy-related serine protease PDZ domain containing 1220 2004-11-18 2023-01-20 94031 ENSG00000170801 OTTHUMG00000090561 uc003gla.4 AY040094 NM_053044 "CCDS3400|CCDS75105" P83110 "12513693|14500695" MGI:1925808 RGD:1308120 608785 S01.284 HGNC:30406 "ENST00000307358.7|NM_053044.5" +HGNC:14348 HTRA2 HtrA serine peptidase 2 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "OMI|PARK13" PRSS25 protease, serine, 25 "Serine proteases|PDZ domain containing" "738|1220" 2001-09-26 2005-08-19 2005-08-19 2023-01-20 27429 ENSG00000115317 OTTHUMG00000129957 uc002smi.2 NM_013247 "CCDS92786|CCDS92785|CCDS1951|CCDS1952" O43464 "10644717|10971580" MGI:1928676 RGD:1308906 606441 122552 S01.278 HGNC:14348 "ENST00000258080.8|NM_013247.5" HGNC:14348 +HGNC:30406 HTRA3 HtrA serine peptidase 3 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "Tasp|Prsp" pregnancy-related serine protease PDZ domain containing 1220 2004-11-18 2023-01-20 94031 ENSG00000170801 OTTHUMG00000090561 uc003gla.4 AY040094 NM_053044 "CCDS75105|CCDS3400" P83110 "12513693|14500695" MGI:1925808 RGD:1308120 608785 S01.284 HGNC:30406 "ENST00000307358.7|NM_053044.5" HGNC:26909 HTRA4 HtrA serine peptidase 4 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 FLJ90724 PDZ domain containing 1220 2004-11-18 2023-01-20 203100 ENSG00000169495 OTTHUMG00000164070 uc003xmj.4 AK075205 NM_153692 CCDS6110 P83105 MGI:3036260 RGD:1306242 610700 S01.285 HGNC:26909 "ENST00000302495.5|NM_153692.4" HGNC:4851 HTT huntingtin protein-coding gene gene with protein product Approved 4p16.3 04p16.3 IT15 HD huntingtin (Huntington disease) "Receptor ligands|Armadillo like helical domain containing" "542|1492" 1986-01-01 2007-12-04 2007-12-04 2023-01-20 3064 ENSG00000197386 OTTHUMG00000159916 uc062uto.1 L12392 NM_002111 CCDS43206 P42858 8458085 MGI:96067 RGD:68337 LRG_763|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_763.xml 613004 122387 ligandId:5199 HGNC:4851 "ENST00000355072.11|NM_001388492.1" HGNC:4851 HGNC:37118 HTT-AS HTT antisense RNA non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 HTTAS HTT-AS1 "HTT antisense RNA 1 (non-protein coding)|HTT antisense RNA 1|HTT antisense RNA (head to head)" Antisense RNAs 1987 2011-06-30 2013-08-27 2018-03-22 2018-03-22 100750326 ENSG00000251075 OTTHUMG00000159915 NR_045414 "21672921|23756188" HTT-AS HGNC:37118 @@ -12427,66 +12428,66 @@ HGNC:16485 HUS1B HUS1 checkpoint clamp component B protein-coding gene gene with HGNC:30892 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "Ib772|KIAA0312|UREB1" HECT, UBA and WWE domain containing 1 "Armadillo like helical domain containing|MicroRNA protein coding host genes|HECT domain containing" "1492|1691|1959" 2005-02-01 2019-02-28 2023-01-20 10075 ENSG00000086758 OTTHUMG00000021617 uc033eew.2 AB071605 NM_031407 CCDS35301 Q7Z6Z7 "9205841|10998601" MGI:1926884 RGD:1561763 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HUWE1 300697 209314 HGNC:30892 "ENST00000262854.11|NM_031407.7" HGNC:30892 HGNC:5314 HVBS7 hepatitis B virus integration site 7 other virus integration site Approved 18q11.1-q11.2 18q11.1-q11.2 1988-07-29 2010-06-21 3369 2830013 HGNC:5315 HVBS8 hepatitis B virus integration site 8 other virus integration site Approved 17p12-p11.2 17p12-p11.2 1989-04-13 2010-06-16 3370 M23190 2845134 -HGNC:28240 HVCN1 hydrogen voltage gated channel 1 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "MGC15619|Hv1|VSOP" voltage sensor domain-only protein hydrogen voltage-gated channel 1 Hydrogen voltage gated channels 254 2006-03-28 2006-03-24 2015-01-16 2023-01-20 84329 ENSG00000122986 OTTHUMG00000169530 uc001trs.3 BC007277 NM_032369 "CCDS31900|CCDS58278" Q96D96 "20961760|16556803|18356202|22020278" MGI:1921346 RGD:1310788 611227 objectId:746 HGNC:28240 "ENST00000242607.13|NM_032369.4" -HGNC:5320 HYAL1 hyaluronidase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LUCA1|HYAL-1" hyaluronoglucosaminidase 1 Hyaluronidases 1448 1997-10-09 2018-08-02 2023-01-20 3373 ENSG00000114378 OTTHUMG00000156941 uc003czs.4 U90094 NM_033159 "CCDS46832|CCDS2817|CCDS2816|CCDS46833" Q12794 "9223416|9409739" MGI:96298 RGD:1303060 607071 122556 3.2.1.35 HGNC:5320 "ENST00000395144.7|NM_033159.4" HGNC:5320 +HGNC:28240 HVCN1 hydrogen voltage gated channel 1 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "MGC15619|Hv1|VSOP" voltage sensor domain-only protein hydrogen voltage-gated channel 1 Hydrogen voltage gated channels 254 2006-03-28 2006-03-24 2015-01-16 2023-01-20 84329 ENSG00000122986 OTTHUMG00000169530 uc001trs.3 BC007277 NM_032369 "CCDS58278|CCDS31900" Q96D96 "20961760|16556803|18356202|22020278" MGI:1921346 RGD:1310788 611227 objectId:746 HGNC:28240 "ENST00000242607.13|NM_032369.4" +HGNC:5320 HYAL1 hyaluronidase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LUCA1|HYAL-1" hyaluronoglucosaminidase 1 Hyaluronidases 1448 1997-10-09 2018-08-02 2023-01-20 3373 ENSG00000114378 OTTHUMG00000156941 uc003czs.4 U90094 NM_033159 "CCDS2817|CCDS46832|CCDS2816|CCDS46833" Q12794 "9223416|9409739" MGI:96298 RGD:1303060 607071 122556 3.2.1.35 HGNC:5320 "ENST00000395144.7|NM_033159.4" HGNC:5320 HGNC:5321 HYAL2 hyaluronidase 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LuCa-2|LUCA2" "lysosomal hyaluronidase|PH-20 homolog" hyaluronoglucosaminidase 2 Hyaluronidases 1448 1998-11-06 2018-08-02 2023-01-20 8692 ENSG00000068001 OTTHUMG00000156876 uc003czv.4 AJ000099 NM_003773 CCDS2818 Q12891 "9712871|9790770" MGI:1196334 RGD:620321 603551 HGNC:5321 "ENST00000357750.9|NM_003773.5" -HGNC:5322 HYAL3 hyaluronidase 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LUCA-3|LUCA14|Minna14" hyaluronoglucosaminidase 3 Hyaluronidases 1448 1998-09-17 2018-08-02 2023-01-20 8372 ENSG00000186792 OTTHUMG00000156936 uc003czd.3 AF040710 NM_003549 "CCDS56260|CCDS56259|CCDS56257|CCDS2815" O43820 10493834 MGI:1330288 RGD:1303334 604038 HGNC:5322 "ENST00000336307.6|NM_003549.4" +HGNC:5322 HYAL3 hyaluronidase 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LUCA-3|LUCA14|Minna14" hyaluronoglucosaminidase 3 Hyaluronidases 1448 1998-09-17 2018-08-02 2023-01-20 8372 ENSG00000186792 OTTHUMG00000156936 uc003czd.3 AF040710 NM_003549 "CCDS56257|CCDS2815|CCDS56260|CCDS56259" O43820 10493834 MGI:1330288 RGD:1303334 604038 HGNC:5322 "ENST00000336307.6|NM_003549.4" HGNC:5323 HYAL4 hyaluronidase 4 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 hyaluronoglucosaminidase 4 Hyaluronidases 1448 1999-09-16 2018-08-02 2023-01-20 23553 ENSG00000106302 OTTHUMG00000157349 uc003vlc.4 AF009010 NM_012269 CCDS5789 Q2M3T9 10493834 MGI:1924292 RGD:1303194 604510 HGNC:5323 "ENST00000223026.9|NM_012269.3" HGNC:5324 HYAL6P hyaluronidase 6, pseudogene pseudogene pseudogene Approved 7q31.32 07q31.32 HYAL6 hyaluronidase 6 HYALP1 "hyaluronoglucosaminidase pseudogene 1|hyaluronoglucosaminidase 6, pseudogene" Hyaluronidases 1448 1999-11-16 2018-06-21 2018-08-02 2020-08-13 26062 ENSG00000228211 OTTHUMG00000154764 AF149304 NR_002731 10493834 MGI:1921659 PGOHUM00000233547 HGNC:5324 HGNC:24587 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "DRCTNNB1A|HCC|hyccin" down regulated by Ctnnb1, a FAM126A "family with sequence similarity 126, member A|family with sequence similarity 126 member A" PI4KA lipid kinase complex 1588 2006-09-06 2022-07-07 2022-07-07 2023-01-20 84668 ENSG00000122591 OTTHUMG00000128435 uc003svm.5 BC018710 NM_032581 "CCDS87486|CCDS5377" Q9BYI3 "29229838|10910037|16951682|26571211" MGI:2149839 RGD:1562906 610531 121688 HGNC:24587 "ENST00000432176.7|NM_032581.4" HGNC:24587 HGNC:28593 HYCC2 hyccin PI4KA lipid kinase complex subunit 2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 MGC39518 FAM126B "family with sequence similarity 126, member B|family with sequence similarity 126 member B" PI4KA lipid kinase complex 1588 2006-09-06 2022-07-07 2022-07-07 2023-01-20 285172 ENSG00000155744 OTTHUMG00000132823 uc002uws.4 BC039295 NM_173822 "CCDS2335|CCDS92921" Q8IXS8 12477932 MGI:1098784 RGD:1309752 HGNC:28593 "ENST00000681958.1|NM_001321623.1" -HGNC:19368 HYDIN HYDIN axonemal central pair apparatus protein protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "DKFZp434D0513|KIAA1864|PPP1R31|CILD5" protein phosphatase 1, regulatory subunit 31 "hydrocephalus inducing|hydrocephalus inducing homolog (mouse)" Protein phosphatase 1 regulatory subunits 694 2003-06-27 2019-01-21 2023-03-15 54768 ENSG00000157423 OTTHUMG00000137584 uc021tkq.3 AK074472 NM_001198542 "CCDS56005|CCDS56004|CCDS59269|CCDS10897" Q4G0P3 "12719380|23022101" MGI:2389007 RGD:1562254 610812 316341 HGNC:19368 "ENST00000393567.7|NM_001270974.2" HGNC:19368 +HGNC:19368 HYDIN HYDIN axonemal central pair apparatus protein protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "DKFZp434D0513|KIAA1864|PPP1R31|CILD5" protein phosphatase 1, regulatory subunit 31 "hydrocephalus inducing|hydrocephalus inducing homolog (mouse)" Protein phosphatase 1 regulatory subunits 694 2003-06-27 2019-01-21 2023-03-15 54768 ENSG00000157423 OTTHUMG00000137584 uc021tkq.3 AK074472 NM_001198542 "CCDS10897|CCDS56004|CCDS56005|CCDS59269" Q4G0P3 "12719380|23022101" MGI:2389007 RGD:1562254 610812 316341 HGNC:19368 "ENST00000393567.7|NM_001270974.2" HGNC:19368 HGNC:33129 HYDIN2 HYDIN axonemal central pair apparatus protein 2 (pseudogene) pseudogene pseudogene Approved 1q21.1 01q21.1 HYDINP1 "hydrocephalus inducing homolog 2 (mouse)|HYDIN, axonemal central pair apparatus protein pseudogene 1" 2006-09-05 2012-01-11 2019-01-21 2022-01-05 100288805 ENSG00000276975 OTTHUMG00000158075 AB058767 NR_103556 16938426 610813 PGOHUM00000296540 HGNC:33129 HGNC:56452 HYDINP1 HYDIN pseudogene 1 pseudogene pseudogene Approved 3p12.2 03p12.2 2022-10-19 2022-10-19 127379712 ENSG00000242586 NG_115709 PGOHUM00000299487 -HGNC:26948 HYI hydroxypyruvate isomerase (putative) protein-coding gene gene with protein product Approved 1p34.2 01p34.2 HT036 hydroxypyruvate isomerase homolog (E. coli) 2005-05-25 2010-06-24 2023-01-20 81888 ENSG00000178922 OTTHUMG00000007502 uc001cjo.3 NM_031207 "CCDS488|CCDS72771|CCDS53309|CCDS81313" Q5T013 10561547 MGI:1915430 RGD:1561416 619128 5.3.1.22 HGNC:26948 "ENST00000372430.9|NM_001190880.3" +HGNC:26948 HYI hydroxypyruvate isomerase (putative) protein-coding gene gene with protein product Approved 1p34.2 01p34.2 HT036 hydroxypyruvate isomerase homolog (E. coli) 2005-05-25 2010-06-24 2023-01-20 81888 ENSG00000178922 OTTHUMG00000007502 uc001cjo.3 NM_031207 "CCDS72771|CCDS488|CCDS81313|CCDS53309" Q5T013 10561547 MGI:1915430 RGD:1561416 619128 5.3.1.22 HGNC:26948 "ENST00000372430.9|NM_001190880.3" HGNC:41173 HYI-AS1 HYI antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 HYI antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2014-11-19 100873923 ENSG00000229348 OTTHUMG00000007503 uc057foc.1 NR_174945 HYI-AS1 -HGNC:34403 HYKK hydroxylysine kinase protein-coding gene gene with protein product Approved 15q25.1 15q25.1 LOC123688 5-hydroxylysine kinase AGPHD1 aminoglycoside phosphotransferase domain containing 1 2009-05-22 2013-06-11 2013-06-11 2023-01-20 123688 ENSG00000188266 OTTHUMG00000177204 "BC132753|BC144383|BM045979" NM_001013619 "CCDS45318|CCDS42063" A2RU49 "18780872|22241472" MGI:2443139 RGD:1308677 614681 2.7.1.81 HGNC:34403 "ENST00000388988.9|NM_001013619.4" +HGNC:34403 HYKK hydroxylysine kinase protein-coding gene gene with protein product Approved 15q25.1 15q25.1 LOC123688 5-hydroxylysine kinase AGPHD1 aminoglycoside phosphotransferase domain containing 1 2009-05-22 2013-06-11 2013-06-11 2023-01-20 123688 ENSG00000188266 OTTHUMG00000177204 "BC132753|BC144383|BM045979" NM_001013619 "CCDS42063|CCDS45318" A2RU49 "18780872|22241472" MGI:2443139 RGD:1308677 614681 2.7.1.81 HGNC:34403 "ENST00000388988.9|NM_001013619.4" HGNC:26558 HYLS1 HYLS1 centriolar and ciliogenesis associated protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ32915 hydrolethalus syndrome 1 2005-05-04 2019-01-22 2023-01-20 219844 ENSG00000198331 OTTHUMG00000165858 uc009zbv.4 AK057477 NM_145014 CCDS8467 Q96M11 "15843405|19656802" MGI:1924082 RGD:1594169 610693 122562 HGNC:26558 "ENST00000425380.7|NM_001134793.2" HGNC:26558 HGNC:5326 HYMAI hydatidiform mole associated and imprinted non-coding RNA RNA, long non-coding Approved 6q24.2 06q24.2 NCRNA00020 non-protein coding RNA 20 hydatidiform mole associated and imprinted (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2000-06-15 2018-05-16 2021-04-13 57061 ENSG00000283122 OTTHUMG00000189750 uc063sag.1 AF241534 NR_002768 10936046 MGI:2651552 LRG_1035|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1035.xml 606546 159723 HYMAI HGNC:5326 -HGNC:16931 HYOU1 hypoxia up-regulated 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "ORP150|HSP12A|Grp170" glucose-regulated protein 170 Heat shock 70kDa proteins 583 2002-05-27 2023-01-20 10525 ENSG00000149428 OTTHUMG00000166354 uc031yhc.2 U65785 NM_006389 "CCDS91604|CCDS8408" Q9Y4L1 "9020069|10037731" MGI:108030 RGD:621146 601746 HGNC:16931 "ENST00000617285.5|NM_006389.5" -HGNC:56704 HYOU1-AS1 HYOU1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 HYOU1-AS Antisense RNAs 1987 2023-01-19 2023-01-19 128385375 ENSG00000255114 33422616 +HGNC:16931 HYOU1 hypoxia up-regulated 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "ORP150|HSP12A|Grp170" glucose-regulated protein 170 Heat shock 70kDa proteins 583 2002-05-27 2023-01-20 10525 ENSG00000149428 OTTHUMG00000166354 uc031yhc.2 U65785 NM_006389 "CCDS8408|CCDS91604" Q9Y4L1 "9020069|10037731" MGI:108030 RGD:621146 601746 HGNC:16931 "ENST00000617285.5|NM_006389.5" +HGNC:56704 HYOU1-AS1 HYOU1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 HYOU1-AS Antisense RNAs 1987 2023-01-19 2023-01-19 128385375 ENSG00000255114 NR_186315 33422616 HGNC:18418 HYPK huntingtin interacting protein K protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "HSPC136|FLJ20431" Huntingtin yeast partner K C15orf63 chromosome 15 open reading frame 63 2009-06-12 2012-10-08 2012-10-08 2023-01-20 25764 ENSG00000242028 OTTHUMG00000060146 uc059inn.1 AF049613 NM_016400 CCDS10104 Q9NX55 "9700202|20154145" MGI:1914943 RGD:1311457 612784 HGNC:18418 "ENST00000442995.4|NM_016400.4" -HGNC:27696 IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) protein-coding gene gene with protein product Approved 2p25.1 02p25.1 isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 2006-11-24 2017-09-15 2023-01-20 285148 ENSG00000134330 OTTHUMG00000159076 uc002qzr.4 BC111025 NM_001039613 "CCDS42651|CCDS82418" Q2TAA2 27266874 MGI:1914982 RGD:727866 HGNC:27696 "ENST00000497473.6|NM_001039613.3" +HGNC:27696 IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) protein-coding gene gene with protein product Approved 2p25.1 02p25.1 isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 2006-11-24 2017-09-15 2023-01-20 285148 ENSG00000134330 OTTHUMG00000159076 uc002qzr.4 BC111025 NM_001039613 "CCDS82418|CCDS42651" Q2TAA2 27266874 MGI:1914982 RGD:727866 HGNC:27696 "ENST00000497473.6|NM_001039613.3" HGNC:5329 IAPP islet amyloid polypeptide protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "AMYLIN|DAP|IAP" amylin Neuropeptides 1902 1989-05-24 2023-01-20 3375 ENSG00000121351 OTTHUMG00000169128 uc058lui.1 NM_000415 CCDS8688 P10997 MGI:96382 RGD:2854 147940 ligandId:687 HGNC:5329 "ENST00000240652.8|NM_000415.3" -HGNC:5330 IARS1 isoleucyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 ILRS isoleucine tRNA ligase 1, cytoplasmic IARS isoleucyl-tRNA synthetase "Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "131|1691|1835" 1995-07-11 2019-07-15 2019-07-15 2023-01-20 3376 ENSG00000196305 OTTHUMG00000020219 uc004art.4 AB209234 NM_002161 "CCDS94439|CCDS6694|CCDS94438" P41252 8812440 MGI:2145219 RGD:621022 600709 6.1.1.5 HGNC:5330 "ENST00000443024.7|NM_002161.6" HGNC:5330 +HGNC:5330 IARS1 isoleucyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 ILRS isoleucine tRNA ligase 1, cytoplasmic IARS isoleucyl-tRNA synthetase "Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "131|1691|1835" 1995-07-11 2019-07-15 2019-07-15 2023-01-20 3376 ENSG00000196305 OTTHUMG00000020219 uc004art.4 AB209234 NM_002161 "CCDS6694|CCDS94439|CCDS94438" P41252 8812440 MGI:2145219 RGD:621022 600709 6.1.1.5 HGNC:5330 "ENST00000443024.7|NM_002161.6" HGNC:5330 HGNC:29685 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1q41 01q41 FLJ10326 isoleucine tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 2005-05-09 2007-02-26 2023-01-20 55699 ENSG00000067704 OTTHUMG00000037287 uc001hmc.4 AK022665 NM_018060 CCDS1523 Q9NSE4 MGI:1919586 RGD:1311857 612801 444729 6.1.1.5 HGNC:29685 "ENST00000366922.3|NM_018060.4" HGNC:29685 HGNC:50474 IARS2P1 IARS2 pseudogene 1 pseudogene pseudogene Approved 8q21.3 08q21.3 isoleucyl-tRNA synthetase 2, mitochondrial pseudogene 1 2014-05-06 2019-01-21 2019-01-21 642461 ENSG00000251563 OTTHUMG00000160488 NG_028883 PGOHUM00000249423 HGNC:50474 HGNC:53719 IATPR ITGB1 adjacent tumor promoting lncRNA non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 "TCONS_00018476|linc-ITGB1" Long non-coding RNAs with non-systematic symbols 1992 2018-08-22 2018-08-22 101929447 ENSG00000233387 OTTHUMG00000017937 NR_160030 "28829502|26601916|25893892" HGNC:53719 HGNC:27302 IBA57 iron-sulfur cluster assembly factor IBA57 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 FLJ12734 iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa C1orf69 "chromosome 1 open reading frame 69|IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)|IBA57 homolog, iron-sulfur cluster assembly" Mitochondrial iron-sulfur assembly components 1853 2005-05-18 2011-03-11 2019-01-21 2023-01-20 200205 ENSG00000181873 OTTHUMG00000039769 uc001hsl.5 AK022796 NM_001010867 CCDS31046 Q5T440 22323289 MGI:3041174 RGD:1306000 615316 365096 HGNC:27302 "ENST00000366711.4|NM_001010867.4" HGNC:27302 HGNC:32062 IBA57-DT IBA57 divergent transcript non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 FLJ32878 "C1orf148|IBA57-AS1" "chromosome 1 open reading frame 148|IBA57 antisense RNA 1 (head to head)" Divergent transcripts 1990 2005-07-12 2018-03-22 2018-03-22 2020-04-20 574432 ENSG00000203684 OTTHUMG00000039768 AK057440 NR_103540 B1ANH7 IBA57-AS1 HGNC:32062 HGNC:5341 IBSP integrin binding sialoprotein protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "BSP|SP-II|BSP-II" "bone sialoprotein|bone sialoprotein II" SIBLING family 1279 1993-03-23 2016-01-12 2023-01-20 3381 ENSG00000029559 OTTHUMG00000130600 uc003hqx.5 NM_004967 CCDS3624 P21815 8406493 MGI:96389 RGD:2855 147563 HGNC:5341 "ENST00000226284.7|NM_004967.4" -HGNC:17853 IBTK inhibitor of Bruton tyrosine kinase protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "DKFZP564B116|BTBD26" BTKI "Bruton agammaglobulinemia tyrosine kinase inhibitor|inhibitor of Bruton agammaglobulinemia tyrosine kinase" "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2003-08-29 2003-10-08 2015-11-27 2023-01-20 25998 ENSG00000005700 OTTHUMG00000015102 uc003pjl.2 AF235049 NM_015525 "CCDS75486|CCDS34490" Q9P2D0 11577348 MGI:1918677 RGD:1311697 606457 HGNC:17853 "ENST00000306270.12|NM_015525.4" +HGNC:17853 IBTK inhibitor of Bruton tyrosine kinase protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "DKFZP564B116|BTBD26" BTKI "Bruton agammaglobulinemia tyrosine kinase inhibitor|inhibitor of Bruton agammaglobulinemia tyrosine kinase" "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2003-08-29 2003-10-08 2015-11-27 2023-01-20 25998 ENSG00000005700 OTTHUMG00000015102 uc003pjl.2 AF235049 NM_015525 "CCDS34490|CCDS75486" Q9P2D0 11577348 MGI:1918677 RGD:1311697 606457 HGNC:17853 "ENST00000306270.12|NM_015525.4" HGNC:31672 IBTKP1 inhibitor of Bruton tyrosine kinase pseudogene 1 pseudogene pseudogene Approved 18q12.3 18q12.3 "IBTK pseudogene 1|inhibitor of Bruton agammaglobulinemia tyrosine kinase pseudogene 1" 2010-03-19 2015-11-27 2015-11-27 100127883 NG_022990 PGOHUM00000235047 HGNC:31672 -HGNC:5343 ICA1 islet cell autoantigen 1 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "ICAp69|ICA69" "islet cell autoantigen 1 (69kD)|islet cell autoantigen 1, 69kDa" AH domain containing 1921 1992-08-24 2015-11-09 2023-01-20 3382 ENSG00000003147 OTTHUMG00000152008 uc003srq.5 NM_004968 "CCDS87478|CCDS64595|CCDS34602" Q05084 "7918678|8777998" MGI:96391 RGD:621465 147625 HGNC:5343 "ENST00000402384.8|NM_001136020.3" +HGNC:5343 ICA1 islet cell autoantigen 1 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "ICAp69|ICA69" "islet cell autoantigen 1 (69kD)|islet cell autoantigen 1, 69kDa" AH domain containing 1921 1992-08-24 2015-11-09 2023-01-20 3382 ENSG00000003147 OTTHUMG00000152008 uc003srq.5 NM_004968 "CCDS64595|CCDS34602|CCDS87478" Q05084 "7918678|8777998" MGI:96391 RGD:621465 147625 HGNC:5343 "ENST00000402384.8|NM_001136020.3" HGNC:55606 ICA1-AS1 ICA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p21.3 07p21.3 Antisense RNAs 1987 2021-06-09 2021-06-10 100505938 ENSG00000244239 NR_125740 -HGNC:14442 ICA1L islet cell autoantigen 1 like protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "ALS2CR15|ALS2CR14" "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14|islet cell autoantigen 1,69kDa-like" AH domain containing 1921 2001-01-26 2006-05-26 2015-11-10 2023-03-15 130026 ENSG00000163596 OTTHUMG00000132856 uc032oqc.1 AB053317 NM_138468 "CCDS74632|CCDS2354" Q8NDH6 11586298 MGI:1917625 RGD:735110 HGNC:14442 "ENST00000358299.7|NM_001288622.3" +HGNC:14442 ICA1L islet cell autoantigen 1 like protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "ALS2CR15|ALS2CR14" "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14|islet cell autoantigen 1,69kDa-like" AH domain containing 1921 2001-01-26 2006-05-26 2015-11-10 2023-03-15 130026 ENSG00000163596 OTTHUMG00000132856 uc032oqc.1 AB053317 NM_138468 "CCDS2354|CCDS74632" Q8NDH6 11586298 MGI:1917625 RGD:735110 HGNC:14442 "ENST00000358299.7|NM_001288622.3" HGNC:5344 ICAM1 intercellular adhesion molecule 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "BB2|CD54" human rhinovirus receptor "CD molecules|Receptor ligands|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|542|594|1410" 1989-04-24 2008-07-18 2023-01-20 3383 ENSG00000090339 OTTHUMG00000180403 uc002mnq.3 NM_000201 CCDS12231 P05362 "2453850|3871395" MGI:96392 RGD:2857 147840 ligandId:6757 CD54 HGNC:5344 "ENST00000264832.8|NM_000201.3" HGNC:5345 ICAM2 intercellular adhesion molecule 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 CD102 "CD molecules|Receptor ligands|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|542|594|1410" 1990-03-06 2023-01-20 3384 ENSG00000108622 OTTHUMG00000178865 uc002jdv.5 NM_000873 CCDS11657 P13598 1769660 MGI:96394 RGD:1359660 146630 ligandId:6756 CD102 HGNC:5345 "ENST00000579788.6|NM_001099789.2" -HGNC:5346 ICAM3 intercellular adhesion molecule 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "CDW50|ICAM-R|CD50" "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1994-05-19 2023-01-20 3385 ENSG00000076662 OTTHUMG00000180410 uc002mob.3 NM_001320605 "CCDS12235|CCDS82290" P32942 1448174 146631 CD50 HGNC:5346 "ENST00000160262.10|NM_002162.5" -HGNC:5347 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) protein-coding gene gene with protein product Approved 19p13.2 19p13.2 CD242 LW "intercellular adhesion molecule 4, Landsteiner-Wiener blood group|Landsteiner-Wiener blood group|intercellular adhesion molecule 4 (LW blood group)" "Blood group antigens|CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "454|471|594|1410" 2001-06-22 2006-02-23 2023-03-15 3386 ENSG00000105371 OTTHUMG00000180405 uc002mns.3 X93093 NM_001544 "CCDS12232|CCDS32904" Q14773 "8639917|6431896" MGI:1925619 RGD:1308971 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_809|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_809.xml" 614088 CD242 HGNC:5347 "ENST00000380770.5|NM_001544.5" -HGNC:55990 ICAM4-AS1 ICAM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 "LncRNA-ECM|ICR|AC011511.5" "long non-coding(lnc) RNA-extracellular matrix|ICAM-1-related non-coding RNA" Antisense RNAs 1987 2021-11-15 2022-09-16 123706506 ENSG00000267607 "30128011|35714558|35711945" +HGNC:5346 ICAM3 intercellular adhesion molecule 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "CDW50|ICAM-R|CD50" "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1994-05-19 2023-01-20 3385 ENSG00000076662 OTTHUMG00000180410 uc002mob.3 NM_001320605 "CCDS82290|CCDS12235" P32942 1448174 146631 CD50 HGNC:5346 "ENST00000160262.10|NM_002162.5" +HGNC:5347 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) protein-coding gene gene with protein product Approved 19p13.2 19p13.2 CD242 LW "intercellular adhesion molecule 4, Landsteiner-Wiener blood group|Landsteiner-Wiener blood group|intercellular adhesion molecule 4 (LW blood group)" "Blood group antigens|CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "454|471|594|1410" 2001-06-22 2006-02-23 2023-03-15 3386 ENSG00000105371 OTTHUMG00000180405 uc002mns.3 X93093 NM_001544 "CCDS32904|CCDS12232" Q14773 "8639917|6431896" MGI:1925619 RGD:1308971 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_809|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_809.xml" 614088 CD242 HGNC:5347 "ENST00000380770.5|NM_001544.5" +HGNC:55990 ICAM4-AS1 ICAM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 "LncRNA-ECM|ICR|AC011511.5" "long non-coding(lnc) RNA-extracellular matrix|ICAM-1-related non-coding RNA" Antisense RNAs 1987 2021-11-15 2022-09-16 123706506 ENSG00000267607 NR_186335 "30128011|35714558|35711945" HGNC:5348 ICAM5 intercellular adhesion molecule 5 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 TLN telencephalin TLCN "Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "594|1410" 1997-05-15 2015-11-13 2023-01-20 7087 ENSG00000105376 OTTHUMG00000180406 uc002mnu.5 U72671 NM_003259 CCDS12233 Q9UMF0 "8995416|9828136" MGI:109430 RGD:1305039 601852 HGNC:5348 "ENST00000221980.5|NM_003259.4" HGNC:29154 ICE1 interactor of little elongation complex ELL subunit 1 protein-coding gene gene with protein product Approved 5p15.32 05p15.32 KIAA0947 KIAA0947 2009-06-19 2014-06-03 2014-11-03 2023-01-20 23379 ENSG00000164151 OTTHUMG00000161639 NM_015325.1 CCDS47187 Q9Y2F5 "10231032|23932780" MGI:2385865 RGD:1309747 617958 HGNC:29154 "ENST00000296564.9|NM_015325.3" -HGNC:29885 ICE2 interactor of little elongation complex ELL subunit 2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "FLJ11896|BRCC1" breast cancer cell 1 NARG2 NMDA receptor regulated 2 2004-12-01 2014-06-03 2014-11-03 2023-03-15 79664 ENSG00000128915 OTTHUMG00000132764 BC013684 NM_024611 "CCDS10176|CCDS61657" Q659A1 "11297529|23932780" MGI:2135947 RGD:1585038 610835 HGNC:29885 "ENST00000261520.9|NM_024611.6" +HGNC:29885 ICE2 interactor of little elongation complex ELL subunit 2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "FLJ11896|BRCC1" breast cancer cell 1 NARG2 NMDA receptor regulated 2 2004-12-01 2014-06-03 2014-11-03 2023-03-15 79664 ENSG00000128915 OTTHUMG00000132764 BC013684 NM_024611 "CCDS61657|CCDS10176" Q659A1 "11297529|23932780" MGI:2135947 RGD:1585038 610835 HGNC:29885 "ENST00000261520.9|NM_024611.6" HGNC:48856 ICE2P1 interactor of little elongation complex ELL subunit 2 pseudogene 1 pseudogene pseudogene Approved 4q35.2 04q35.2 NARG2P1 NMDA receptor regulated 2 pseudogene 1 2013-06-19 2014-06-03 2014-11-03 2014-11-03 644491 ENSG00000248880 OTTHUMG00000160211 NG_022044 PGOHUM00000245794 HGNC:48856 HGNC:48857 ICE2P2 interactor of little elongation complex ELL subunit 2 pseudogene 2 pseudogene pseudogene Approved 3p11.1 03p11.1 NARG2P2 NMDA receptor regulated 2 pseudogene 2 2013-06-19 2014-06-03 2014-11-03 2014-11-03 728432 ENSG00000242705 OTTHUMG00000159037 NG_022254 PGOHUM00000238096 HGNC:48857 HGNC:5350 ICMT isoprenylcysteine carboxyl methyltransferase protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "PCCMT|HSTE14|PPMT" protein-S-isoprenylcysteine O-methyltransferase Methyltransferase families 1398 2000-01-20 2023-03-15 23463 ENSG00000116237 OTTHUMG00000001254 uc001amk.4 AF064084 NM_012405 CCDS61 O60725 "9614111|10441503" MGI:1888594 RGD:621618 605851 2.1.1.100 HGNC:5350 "ENST00000343813.10|NM_012405.4" HGNC:28620 ICMT-DT ICMT divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.31 01p36.31 MGC40168 "C1orf211|NCRNA00337|LINC00337" "chromosome 1 open reading frame 211|non-protein coding RNA 337|long intergenic non-protein coding RNA 337" Divergent transcripts 1990 2006-04-03 2021-08-16 2021-08-16 2023-03-15 148645 ENSG00000225077 OTTHUMG00000001255 uc031tnm.2 BC030279 NR_103534 31217892 LINC00337 HGNC:28620 HGNC:5351 ICOS inducible T cell costimulator protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "AILIM|CD278" activation-inducible lymphocyte immunomediatory molecule inducible T-cell costimulator CD molecules 471 2000-02-29 2017-12-06 2023-01-20 29851 ENSG00000163600 OTTHUMG00000132880 uc002vam.4 AB023135 NM_012092 CCDS2363 Q9Y6W8 "9930702|10617205" MGI:1858745 RGD:620123 "ICOSbase: Mutation registry for ICOS deficiency|http://structure.bmc.lu.se/idbase/ICOSbase/|LRG_65|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_65.xml" 604558 122565 objectId:2939 CD278 HGNC:5351 "ENST00000316386.11|NM_012092.4" HGNC:5351 -HGNC:17087 ICOSLG inducible T cell costimulator ligand protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KIAA0653|GL50|B7-H2|B7RP-1|B7H2|B7RP1|ICOS-L|CD275|B7h" "B7-related protein 1|B7 homologue 2|B7 homolog 2" ICOSL inducible T-cell costimulator ligand "CD molecules|Receptor ligands|V-set domain containing|C2-set domain containing|B7 family" "471|542|590|592|1824" 2003-12-12 2005-01-12 2017-12-06 2023-01-20 23308 ENSG00000160223 OTTHUMG00000086920 uc002zee.5 AB014553 NM_015259 "CCDS63377|CCDS42952|CCDS63379|CCDS93104|CCDS93102" O75144 "9734811|11007762" MGI:1354701 RGD:1562791 605717 ligandId:9593 CD275 HGNC:17087 "ENST00000407780.8|NM_015259.6" +HGNC:17087 ICOSLG inducible T cell costimulator ligand protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KIAA0653|GL50|B7-H2|B7RP-1|B7H2|B7RP1|ICOS-L|CD275|B7h" "B7-related protein 1|B7 homologue 2|B7 homolog 2" ICOSL inducible T-cell costimulator ligand "CD molecules|Receptor ligands|V-set domain containing|C2-set domain containing|B7 family" "471|542|590|592|1824" 2003-12-12 2005-01-12 2017-12-06 2023-01-20 23308 ENSG00000160223 OTTHUMG00000086920 uc002zee.5 AB014553 NM_015259 "CCDS93102|CCDS42952|CCDS93104|CCDS63379|CCDS63377" O75144 "9734811|11007762" MGI:1354701 RGD:1562791 605717 ligandId:9593 CD275 HGNC:17087 "ENST00000407780.8|NM_015259.6" HGNC:5360 ID1 inhibitor of DNA binding 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ857M17.1.2|bHLHb24" "DNA-binding protein inhibitor ID-1|inhibitor of differentiation 1" inhibitor of DNA binding 1, dominant negative helix-loop-helix protein Basic helix-loop-helix proteins 420 1994-12-22 2022-08-17 2023-01-20 3397 ENSG00000125968 OTTHUMG00000032181 uc002wwg.3 NM_002165 "CCDS13186|CCDS13185" P41134 8294468 MGI:96396 RGD:2858 600349 HGNC:5360 "ENST00000376112.4|NM_002165.4" HGNC:5361 ID2 inhibitor of DNA binding 2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "GIG8|bHLHb26" cell growth-inhibiting gene 8 "inhibitor of differentiation 2|inhibitor of DNA binding 2, dominant negative helix-loop-helix protein" Basic helix-loop-helix proteins 420 1994-12-22 2017-09-15 2023-01-20 3398 ENSG00000115738 OTTHUMG00000112454 uc002qza.4 NM_002166 CCDS1659 Q02363 8294468 MGI:96397 RGD:2859 600386 HGNC:5361 "ENST00000396290.2|NM_002166.5" HGNC:51103 ID2-AS1 ID2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 ID2 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-07-29 2018-03-23 2018-03-23 100506299 ENSG00000235092 OTTHUMG00000151625 NR_110153 ID2-AS1 HGNC:51103 HGNC:30656 ID2B inhibitor of DNA binding 2B (pseudogene) pseudogene pseudogene Approved 3p14.2 03p14.2 inhibitor of differentiation 2B "inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein|inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene)" 2004-01-12 2022-08-17 2022-08-17 84099 ENSG00000237456 OTTHUMG00000158659 M96843 NR_026582 Q14602 8224921 PGOHUM00000299047 HGNC:30656 HGNC:5362 ID3 inhibitor of DNA binding 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "HEIR-1|bHLHb25" inhibitor of differentiation 3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein Basic helix-loop-helix proteins 420 1994-12-19 2022-08-17 2023-01-20 3399 ENSG00000117318 OTTHUMG00000003229 uc001bhh.5 X69111 NM_002167 CCDS237 Q02535 1628620 MGI:96398 RGD:2860 600277 HGNC:5362 "ENST00000374561.6|NM_002167.5" HGNC:5363 ID4 inhibitor of DNA binding 4 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 bHLHb27 inhibitor of differentiation 4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein Basic helix-loop-helix proteins 420 1995-02-13 2022-08-17 2023-01-20 3400 ENSG00000172201 OTTHUMG00000014333 uc003ncw.5 U16153 NM_001546 CCDS4544 P47928 7665172 MGI:99414 RGD:631428 600581 HGNC:5363 "ENST00000378700.8|NM_001546.4" -HGNC:5381 IDE insulin degrading enzyme protein-coding gene gene with protein product Approved 10q23.33 10q23.33 insulysin insulin-degrading enzyme M16 metallopeptidases 1440 1990-07-03 2016-02-01 2023-01-20 3416 ENSG00000119912 OTTHUMG00000018759 uc001kia.4 M21188 NM_004969 "CCDS91299|CCDS7421|CCDS91300|CCDS91301|CCDS53554" P14735 2293021 MGI:96412 RGD:2861 146680 M16.002 objectId:2371 HGNC:5381 "ENST00000265986.11|NM_004969.4" +HGNC:5381 IDE insulin degrading enzyme protein-coding gene gene with protein product Approved 10q23.33 10q23.33 insulysin insulin-degrading enzyme M16 metallopeptidases 1440 1990-07-03 2016-02-01 2023-01-20 3416 ENSG00000119912 OTTHUMG00000018759 uc001kia.4 M21188 NM_004969 "CCDS91300|CCDS91301|CCDS53554|CCDS7421|CCDS91299" P14735 2293021 MGI:96412 RGD:2861 146680 M16.002 objectId:2371 HGNC:5381 "ENST00000265986.11|NM_004969.4" HGNC:5382 IDH1 isocitrate dehydrogenase (NADP(+)) 1 protein-coding gene gene with protein product Approved 2q34 02q34 "isocitrate dehydrogenase 1 (NADP+), soluble|isocitrate dehydrogenase 1 (NADP+)|isocitrate dehydrogenase (NADP(+)) 1, cytosolic" Isocitrate dehydrogenases 1926 2001-06-22 2019-07-08 2023-01-20 3417 ENSG00000138413 OTTHUMG00000132943 uc002vcu.5 NM_005896 CCDS2381 O75874 MGI:96413 RGD:2862 LRG_610|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_610.xml IDH1 147700 299152 objectId:2884 1.1.1.42 HGNC:5382 "ENST00000345146.7|NM_005896.4" HGNC:40292 IDH1-AS1 IDH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q34 02q34 IDH1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-24 2012-08-15 2014-11-19 100507475 ENSG00000231908 OTTHUMG00000154707 uc061rwz.1 "AI492612|BE465811" NR_046452 IDH1-AS1 HGNC:40292 -HGNC:5383 IDH2 isocitrate dehydrogenase (NADP(+)) 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 IDH-2 "isocitrate dehydrogenase 2 (NADP+), mitochondrial|isocitrate dehydrogenase (NADP(+)) 2, mitochondrial" Isocitrate dehydrogenases 1926 1986-01-01 2019-07-08 2023-01-20 3418 ENSG00000182054 OTTHUMG00000149815 uc002box.4 NM_001289910 "CCDS76792|CCDS10359" P48735 MGI:96414 RGD:1597139 LRG_611|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_611.xml IDH2 147650 247145 objectId:2885 1.1.1.42 HGNC:5383 "ENST00000330062.8|NM_002168.4" HGNC:5383 +HGNC:5383 IDH2 isocitrate dehydrogenase (NADP(+)) 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 IDH-2 "isocitrate dehydrogenase 2 (NADP+), mitochondrial|isocitrate dehydrogenase (NADP(+)) 2, mitochondrial" Isocitrate dehydrogenases 1926 1986-01-01 2019-07-08 2023-01-20 3418 ENSG00000182054 OTTHUMG00000149815 uc002box.4 NM_001289910 "CCDS10359|CCDS76792" P48735 MGI:96414 RGD:1597139 LRG_611|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_611.xml IDH2 147650 247145 objectId:2885 1.1.1.42 HGNC:5383 "ENST00000330062.8|NM_002168.4" HGNC:5383 HGNC:53154 IDH2-DT IDH2 divergent transcript non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Divergent transcripts 1990 2017-08-03 2017-08-03 105370966 ENSG00000259685 OTTHUMG00000172203 NR_149130 HGNC:53154 HGNC:5384 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "H-IDH alpha|isocitric dehydrogenase|isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial|NAD+-specific ICDH|NAD(H)-specific isocitrate dehydrogenase alpha subunit|isocitrate dehydrogenase (NAD+) alpha chain" "isocitrate dehydrogenase 3 (NAD+) alpha|isocitrate dehydrogenase (NAD(+)) 3 alpha" Isocitrate dehydrogenases 1926 1995-11-02 2019-07-08 2023-01-20 3419 ENSG00000166411 OTTHUMG00000143732 uc002bdd.4 NM_005530 CCDS10297 P50213 8833160 MGI:1915084 RGD:70889 601149 1.1.1.41 HGNC:5384 "ENST00000299518.7|NM_005530.3" -HGNC:5385 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta protein-coding gene gene with protein product Approved 20p13 20p13 RP46 "isocitrate dehydrogenase 3 (NAD+) beta|isocitrate dehydrogenase (NAD(+)) 3 beta" Isocitrate dehydrogenases 1926 1995-11-02 2019-07-08 2023-03-15 3420 ENSG00000101365 OTTHUMG00000031699 uc002wgp.4 NM_001258384 "CCDS13031|CCDS74696|CCDS13032|CCDS82594" O43837 10575215 MGI:2158650 RGD:621881 604526 176228 1.1.1.41 HGNC:5385 "ENST00000380843.9|NM_006899.5" HGNC:5385 +HGNC:5385 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta protein-coding gene gene with protein product Approved 20p13 20p13 RP46 "isocitrate dehydrogenase 3 (NAD+) beta|isocitrate dehydrogenase (NAD(+)) 3 beta" Isocitrate dehydrogenases 1926 1995-11-02 2019-07-08 2023-03-15 3420 ENSG00000101365 OTTHUMG00000031699 uc002wgp.4 NM_001258384 "CCDS74696|CCDS13031|CCDS13032|CCDS82594" O43837 10575215 MGI:2158650 RGD:621881 604526 176228 1.1.1.41 HGNC:5385 "ENST00000380843.9|NM_006899.5" HGNC:5385 HGNC:55798 IDH3B-DT IDH3B divergent transcript non-coding RNA RNA, long non-coding Approved 20p13 20p13 Divergent transcripts 1990 2021-07-29 2021-07-29 122152330 ENSG00000228293 HGNC:5386 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma protein-coding gene gene with protein product Approved Xq28 Xq28 "isocitrate dehydrogenase 3 (NAD+) gamma|isocitrate dehydrogenase (NAD(+)) 3 gamma" Isocitrate dehydrogenases 1926 1995-11-02 2019-07-08 2023-01-20 3421 ENSG00000067829 OTTHUMG00000024219 uc004fip.4 NM_004135 "CCDS44019|CCDS14730" P51553 9286695 MGI:1099463 RGD:2863 300089 1.1.1.41 HGNC:5386 "ENST00000217901.10|NM_004135.4" HGNC:5387 IDI1 isopentenyl-diphosphate delta isomerase 1 protein-coding gene gene with protein product Approved 10p15.3 10p15.3 IPP isomerase isopentenyl-diphosphate delta isomerase 1995-11-08 2005-07-25 2023-01-20 3422 ENSG00000067064 OTTHUMG00000017536 uc001iga.4 BC006999 NM_004508 "CCDS7056|CCDS91201" Q13907 8020941 MGI:2442264 RGD:621835 604055 objectId:646 5.3.3.2 HGNC:5387 "ENST00000381344.8|NM_004508.4" @@ -12498,7 +12499,7 @@ HGNC:30885 IDI2-AS1 IDI2 antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:31367 IDNK IDNK gluconokinase protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "bA522I20.2|hGntK" C9orf103 "chromosome 9 open reading frame 103|idnK, gluconokinase homolog (E. coli)|IDNK, gluconokinase" 2004-06-02 2012-03-30 2019-01-25 2023-03-15 414328 ENSG00000148057 OTTHUMG00000020105 uc004amu.4 BC036421 NM_001001551 "CCDS59134|CCDS35048" Q5T6J7 "23067238|24896608|26505675" MGI:1922981 RGD:1564546 611343 2.7.1.12 HGNC:31367 "ENST00000376419.5|NM_001001551.4" HGNC:6059 IDO1 indoleamine 2,3-dioxygenase 1 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "IDO|INDO" indoleamine-pyrrole 2,3 dioxygenase 1993-05-26 2009-01-07 2009-01-07 2023-01-20 3620 ENSG00000131203 OTTHUMG00000164057 uc064mfz.1 M34455 NM_002164 CCDS47847 P14902 "2109605|8404046" MGI:96416 RGD:619989 147435 objectId:2829 1.13.11.52 HGNC:6059 "ENST00000518237.6|NM_002164.6" HGNC:27269 IDO2 indoleamine 2,3-dioxygenase 2 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 INDOL1 indoleamine-pyrrole 2,3 dioxygenase-like 1 2006-02-14 2009-01-07 2009-01-07 2023-01-20 169355 ENSG00000188676 OTTHUMG00000141271 uc064mgi.1 AK128691 NM_194294 Q6ZQW0 MGI:2142489 RGD:1596771 612129 objectId:3019 HGNC:27269 "ENST00000502986.4|NM_194294.5" -HGNC:5389 IDS iduronate 2-sulfatase protein-coding gene gene with protein product Approved Xq28 Xq28 ID2S Hunter syndrome SIDS Sulfatases 410 2001-06-22 2008-08-01 2023-01-20 3423 ENSG00000010404 OTTHUMG00000022615 uc011mxe.3 M58342 NM_000202 "CCDS14686|CCDS14685" P22304 MGI:96417 RGD:1560491 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IDS 300823 122569 3.1.6.13 HGNC:5389 "ENST00000340855.11|NM_000202.8" HGNC:5389 +HGNC:5389 IDS iduronate 2-sulfatase protein-coding gene gene with protein product Approved Xq28 Xq28 ID2S Hunter syndrome SIDS Sulfatases 410 2001-06-22 2008-08-01 2023-01-20 3423 ENSG00000010404 OTTHUMG00000022615 uc011mxe.3 M58342 NM_000202 "CCDS14685|CCDS14686" P22304 MGI:96417 RGD:1560491 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IDS 300823 122569 3.1.6.13 HGNC:5389 "ENST00000340855.11|NM_000202.8" HGNC:5389 HGNC:5390 IDSP1 iduronate 2-sulfatase pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 IDS2 1995-07-11 2015-09-21 3424 ENSG00000176289 OTTHUMG00000022620 L36846 NG_001149 7814022 PGOHUM00000305383 HGNC:5390 HGNC:5391 IDUA alpha-L-iduronidase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "MPS1|MPSI" mucopolysaccharidosis type I iduronidase, alpha-L- Glycoside hydrolases 1650 2001-06-22 2019-08-12 2023-03-15 3425 ENSG00000127415 OTTHUMG00000088901 uc003gby.5 M74715 NM_000203 CCDS3343 P35475 1832239 MGI:96418 RGD:1310943 LRG_1277|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1277.xml 252800 122572 3.2.1.76 HGNC:5391 "ENST00000514224.2|NM_000203.5" HGNC:5391 HGNC:28871 IER2 immediate early response 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 ETR101 2004-02-10 2023-01-20 9592 ENSG00000160888 OTTHUMG00000180790 uc002mwr.4 M62831 NM_004907 CCDS12295 Q9BTL4 2061303 MGI:104815 RGD:1359581 620036 HGNC:28871 "ENST00000292433.4|NM_004907.3" @@ -12508,28 +12509,28 @@ HGNC:18550 IER3IP1 immediate early response 3 interacting protein 1 protein-codi HGNC:5393 IER5 immediate early response 5 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 2000-03-03 2023-01-20 51278 ENSG00000162783 OTTHUMG00000035178 uc001got.5 BC000128 NM_016545 CCDS1343 Q5VY09 "10049588|11102586" MGI:1337072 RGD:69252 607177 HGNC:5393 "ENST00000367577.7|NM_016545.5" HGNC:23679 IER5L immediate early response 5 like protein-coding gene gene with protein product Approved 9q34.11 09q34.11 bA247A12.2 2004-08-23 2016-06-13 2023-01-20 389792 ENSG00000188483 OTTHUMG00000020773 uc010myt.2 BC013070 NM_203434 CCDS43888 Q5T953 MGI:1919750 RGD:1561058 HGNC:23679 "ENST00000372491.4|NM_203434.3" HGNC:55825 IER5L-AS1 IER5L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Antisense RNAs 1987 2021-08-02 2021-08-02 105376290 ENSG00000204055 XR_930387 -HGNC:24970 IFFO1 intermediate filament family orphan 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 HOM-TES-103 IFFO intermediate filament family orphan Intermediate filament family orphans 614 2008-02-26 2008-09-11 2008-09-11 2023-03-15 25900 ENSG00000010295 OTTHUMG00000141264 uc001qpf.3 AF124432 NM_080730 "CCDS41741|CCDS8550|CCDS73425|CCDS81655" Q0D2I5 "8771189|3052284|31548606" MGI:2444516 RGD:1308257 610495 HGNC:24970 "ENST00000619571.5|NM_001193457.2" +HGNC:24970 IFFO1 intermediate filament family orphan 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 HOM-TES-103 IFFO intermediate filament family orphan Intermediate filament family orphans 614 2008-02-26 2008-09-11 2008-09-11 2023-03-15 25900 ENSG00000010295 OTTHUMG00000141264 uc001qpf.3 AF124432 NM_080730 "CCDS41741|CCDS73425|CCDS8550|CCDS81655" Q0D2I5 "8771189|3052284|31548606" MGI:2444516 RGD:1308257 610495 HGNC:24970 "ENST00000619571.5|NM_001193457.2" HGNC:27006 IFFO2 intermediate filament family orphan 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 Intermediate filament family orphans 614 2008-09-11 2023-01-20 126917 ENSG00000169991 OTTHUMG00000002499 uc001bbd.3 "AK024480|AL080251" NM_001136265 CCDS44076 Q5TF58 14702039 MGI:2140675 RGD:1624207 HGNC:27006 "ENST00000455833.7|NM_001136265.2" -HGNC:4054 IFI6 interferon alpha inducible protein 6 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "IFI616|FAM14C|6-16|IFI-6-16" G1P3 interferon, alpha-inducible protein (clone IFI-6-16) 1990-10-16 2006-04-21 2016-03-16 2023-01-20 2537 ENSG00000126709 OTTHUMG00000003518 uc001bon.2 BC015603 NM_022873 "CCDS308|CCDS307|CCDS306" P09912 147572 HGNC:4054 "ENST00000361157.11|NM_002038.4" -HGNC:5395 IFI16 interferon gamma inducible protein 16 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "IFNGIP1|PYHIN2" "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 1993-09-29 2016-03-16 2023-01-20 3428 ENSG00000163565 OTTHUMG00000037108 uc057mgg.1 M63838 NM_005531 "CCDS58039|CCDS91079|CCDS91080|CCDS1180" Q16666 "1526658|7959953" "MGI:96428|MGI:96429|MGI:101847|MGI:2138243|MGI:2138302|MGI:2442822|MGI:3041120|MGI:3584522|MGI:3646410|MGI:3695276|MGI:3780953|MGI:3840117" 147586 objectId:2924 HGNC:5395 "ENST00000295809.12|NM_001376587.1" +HGNC:4054 IFI6 interferon alpha inducible protein 6 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "IFI616|FAM14C|6-16|IFI-6-16" G1P3 interferon, alpha-inducible protein (clone IFI-6-16) 1990-10-16 2006-04-21 2016-03-16 2023-01-20 2537 ENSG00000126709 OTTHUMG00000003518 uc001bon.2 BC015603 NM_022873 "CCDS307|CCDS308|CCDS306" P09912 147572 HGNC:4054 "ENST00000361157.11|NM_002038.4" +HGNC:5395 IFI16 interferon gamma inducible protein 16 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "IFNGIP1|PYHIN2" "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 1993-09-29 2016-03-16 2023-01-20 3428 ENSG00000163565 OTTHUMG00000037108 uc057mgg.1 M63838 NM_005531 "CCDS58039|CCDS91079|CCDS1180|CCDS91080" Q16666 "1526658|7959953" "MGI:96428|MGI:96429|MGI:101847|MGI:2138243|MGI:2138302|MGI:2442822|MGI:3041120|MGI:3584522|MGI:3646410|MGI:3695276|MGI:3780953|MGI:3840117" 147586 objectId:2924 HGNC:5395 "ENST00000295809.12|NM_001376587.1" HGNC:5397 IFI27 interferon alpha inducible protein 27 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "P27|FAM14D|ISG12" 1993-11-08 2016-03-16 2023-01-20 3429 ENSG00000165949 OTTHUMG00000171303 uc032bkg.2 X67325 NM_005532 CCDS32148 P40305 8358738 "MGI:1277180|MGI:1916390|MGI:1924183" RGD:69404 600009 HGNC:5397 HGNC:19754 IFI27L1 interferon alpha inducible protein 27 like 1 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 FAM14B family with sequence similarity 14, member B 2002-11-25 2008-10-08 2016-03-16 2023-01-20 122509 ENSG00000165948 OTTHUMG00000171302 uc001ycl.4 BC015423 NM_206949 CCDS9919 Q96BM0 "MGI:1277180|MGI:1916390|MGI:1924183" 611320 HGNC:19754 "ENST00000555523.6|NM_206949.3" HGNC:19753 IFI27L2 interferon alpha inducible protein 27 like 2 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 TLH29 FAM14A family with sequence similarity 14, member A 2002-11-25 2008-10-08 2016-03-16 2023-01-20 83982 ENSG00000119632 OTTHUMG00000171313 uc001ycq.4 AF208232 NM_032036 CCDS9920 Q9H2X8 "MGI:1277180|MGI:1916390|MGI:1924183" RGD:1559721 611319 HGNC:19753 "ENST00000238609.4|NM_032036.3" HGNC:5398 IFI30 IFI30 lysosomal thiol reductase protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "IFI-30|GILT|IP30|MGC32056|IP-30" "gamma-interferon-inducible lysosomal thiol reductase|interferon gamma-inducible protein 30 preproprotein|legumaturain" "interferon gamma inducible protein 30|IFI30, lysosomal thiol reductase" 1999-12-09 2019-01-25 2023-01-20 10437 ENSG00000216490 OTTHUMG00000183373 uc002nic.3 J03909 NM_006332 CCDS46015 P13284 "3136170|10639150" MGI:2137648 RGD:1310758 604664 HGNC:5398 "ENST00000407280.4|NM_006332.5" -HGNC:5399 IFI35 interferon induced protein 35 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 IFP35 interferon-induced protein 35 1996-04-12 2015-11-27 2023-01-20 3430 ENSG00000068079 OTTHUMG00000167720 uc060fqu.1 BC001356 NM_005533 "CCDS82134|CCDS11450" P80217 MGI:1917360 RGD:1304553 600735 HGNC:5399 "ENST00000415816.7|NM_001330230.2" +HGNC:5399 IFI35 interferon induced protein 35 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 IFP35 interferon-induced protein 35 1996-04-12 2015-11-27 2023-01-20 3430 ENSG00000068079 OTTHUMG00000167720 uc060fqu.1 BC001356 NM_005533 "CCDS11450|CCDS82134" P80217 MGI:1917360 RGD:1304553 600735 HGNC:5399 "ENST00000415816.7|NM_001330230.2" HGNC:16938 IFI44 interferon induced protein 44 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "MTAP44|p44|TLDC5" TBC/LysM-associated domain containing 5 interferon-induced protein 44 TLDc domain containing 2055 2002-04-19 2015-11-27 2023-01-20 10561 ENSG00000137965 OTTHUMG00000009723 uc001dip.5 D28915 NM_006417 CCDS688 Q8TCB0 7925411 MGI:2443016 RGD:1310523 610468 HGNC:16938 "ENST00000370747.9|NM_006417.5" -HGNC:17817 IFI44L interferon induced protein 44 like protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "GS3686|TLDC5B" C1orf29 "chromosome 1 open reading frame 29|interferon-induced protein 44-like" TLDc domain containing 2055 2002-01-29 2004-11-12 2015-11-27 2023-01-20 10964 ENSG00000137959 OTTHUMG00000009724 uc010oro.2 AB000115 NM_006820 "CCDS90985|CCDS687" Q53G44 MGI:95975 RGD:1595861 613975 HGNC:17817 "ENST00000370751.10|NM_006820.4" +HGNC:17817 IFI44L interferon induced protein 44 like protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "GS3686|TLDC5B" C1orf29 "chromosome 1 open reading frame 29|interferon-induced protein 44-like" TLDc domain containing 2055 2002-01-29 2004-11-12 2015-11-27 2023-01-20 10964 ENSG00000137959 OTTHUMG00000009724 uc010oro.2 AB000115 NM_006820 "CCDS687|CCDS90985" Q53G44 MGI:95975 RGD:1595861 613975 HGNC:17817 "ENST00000370751.10|NM_006820.4" HGNC:18873 IFIH1 interferon induced with helicase C domain 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "MDA-5|Hlcd|MDA5|IDDM19" "helicard|melanoma differentiation-associated gene 5" "Caspase recruitment domain containing|RNA helicases" "959|1168" 2004-06-25 2016-03-16 2023-01-20 64135 ENSG00000115267 OTTHUMG00000132055 uc002uce.5 AF095844 NM_022168 CCDS2217 Q9BYX4 MGI:1918836 RGD:1560496 LRG_1235|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1235.xml 606951 402570 objectId:2921 HGNC:18873 "ENST00000649979.2|NM_022168.4" HGNC:18873 -HGNC:5407 IFIT1 interferon induced protein with tetratricopeptide repeats 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "GARG-16|ISG56" interferon-induced 56 kDa protein "G10P1|IFI56|IFNAI1" interferon-induced protein with tetratricopeptide repeats 1 Tetratricopeptide repeat domain containing 769 1986-01-01 2015-11-27 2023-01-20 3434 ENSG00000185745 OTTHUMG00000018712 uc001kgi.5 M24594 NM_001548 "CCDS59220|CCDS31243" P09914 "1377167|3360121" "MGI:99450|MGI:2148249|MGI:3650685" 147690 HGNC:5407 "ENST00000371804.4|NM_001548.5" +HGNC:5407 IFIT1 interferon induced protein with tetratricopeptide repeats 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "GARG-16|ISG56" interferon-induced 56 kDa protein "G10P1|IFI56|IFNAI1" interferon-induced protein with tetratricopeptide repeats 1 Tetratricopeptide repeat domain containing 769 1986-01-01 2015-11-27 2023-01-20 3434 ENSG00000185745 OTTHUMG00000018712 uc001kgi.5 M24594 NM_001548 "CCDS31243|CCDS59220" P09914 "1377167|3360121" "MGI:99450|MGI:2148249|MGI:3650685" 147690 HGNC:5407 "ENST00000371804.4|NM_001548.5" HGNC:23442 IFIT1B interferon induced protein with tetratricopeptide repeats 1B protein-coding gene gene with protein product Approved 10q23.31 10q23.31 bA149I23.6 IFIT1L "interferon-induced protein with tetratricopeptide repeats 1-like|interferon-induced protein with tetratricopeptide repeats 1B" Tetratricopeptide repeat domain containing 769 2004-05-27 2010-03-22 2015-11-27 2023-01-20 439996 ENSG00000204010 OTTHUMG00000018709 uc001kgh.3 NM_001010987 CCDS31242 Q5T764 "MGI:99450|MGI:2148249|MGI:3650685" RGD:620599 HGNC:23442 "ENST00000371809.3|NM_001010987.2" HGNC:5408 IFIT1P1 interferon induced protein with tetratricopeptide repeats 1 pseudogene 1 pseudogene pseudogene Approved 13q13.1 13q13.1 II56P "G13P1|IFI56P|IFIT1P" "interferon-induced protein with tetratricopeptide repeats 1, pseudogene|interferon-induced protein with tetratricopeptide repeats 1 pseudogene 1" 1989-06-06 2010-03-22 2015-11-27 2015-11-27 8373 ENSG00000215515 OTTHUMG00000016693 AF196987 NG_001215 3175763 PGOHUM00000248562 HGNC:5408 HGNC:5409 IFIT2 interferon induced protein with tetratricopeptide repeats 2 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "IFI-54|ISG-54K|ISG-54|cig42|GARG-39" "IFI54|G10P2" interferon-induced protein with tetratricopeptide repeats 2 Tetratricopeptide repeat domain containing 769 1989-06-06 2015-11-27 2023-01-20 3433 ENSG00000119922 OTTHUMG00000018707 uc009xts.4 M14660 NM_001547 CCDS41548 P09913 "3175763|3360121" MGI:99449 RGD:1307804 147040 HGNC:5409 "ENST00000371826.4|NM_001547.5" -HGNC:5411 IFIT3 interferon induced protein with tetratricopeptide repeats 3 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "ISG60|RIG-G|CIG-49|IFI60|GARG-49|IRG2" IFIT4 "interferon-induced protein with tetratricopeptide repeats 4|interferon-induced protein with tetratricopeptide repeats 3" Tetratricopeptide repeat domain containing 769 1998-08-13 2004-07-16 2015-11-27 2023-01-20 3437 ENSG00000119917 OTTHUMG00000018708 uc001kgf.5 U52513 NM_001549 "CCDS91298|CCDS31241|CCDS7402" O14879 "9828129|9391139" "MGI:1101055|MGI:3698419" RGD:1359681 604650 HGNC:5411 "ENST00000371818.9|NM_001549.6" +HGNC:5411 IFIT3 interferon induced protein with tetratricopeptide repeats 3 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "ISG60|RIG-G|CIG-49|IFI60|GARG-49|IRG2" IFIT4 "interferon-induced protein with tetratricopeptide repeats 4|interferon-induced protein with tetratricopeptide repeats 3" Tetratricopeptide repeat domain containing 769 1998-08-13 2004-07-16 2015-11-27 2023-01-20 3437 ENSG00000119917 OTTHUMG00000018708 uc001kgf.5 U52513 NM_001549 "CCDS91298|CCDS7402|CCDS31241" O14879 "9828129|9391139" "MGI:1101055|MGI:3698419" RGD:1359681 604650 HGNC:5411 "ENST00000371818.9|NM_001549.6" HGNC:13328 IFIT5 interferon induced protein with tetratricopeptide repeats 5 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 RI58 retinoic acid- and interferon-inducible protein (58kD) interferon-induced protein with tetratricopeptide repeats 5 Tetratricopeptide repeat domain containing 769 2003-11-06 2015-11-27 2023-01-20 24138 ENSG00000152778 OTTHUMG00000018713 uc010qnh.3 U34605 NM_012420 CCDS7403 Q13325 9398535 616135 HGNC:13328 "ENST00000371795.5|NM_012420.3" HGNC:38020 IFIT6P interferon induced protein with tetratricopeptide repeats 6, pseudogene pseudogene pseudogene Approved 10q23.31 10q23.31 interferon-induced protein with tetratricopeptide repeats 6, pseudogene 2010-03-22 2015-11-27 2015-11-27 100128465 ENSG00000224289 OTTHUMG00000018711 NG_022187 PGOHUM00000238883 HGNC:38020 -HGNC:5412 IFITM1 interferon induced transmembrane protein 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "9-27|CD225|DSPA2a" "interferon-induced transmembrane protein 1|dispanin subfamily A member 2a" IFI17 interferon induced transmembrane protein 1 (9-27) "CD molecules|Interferon induced transmembrane proteins" "471|1598" 2000-02-11 2012-03-13 2023-01-20 8519 ENSG00000185885 OTTHUMG00000165359 uc057xel.1 J04164 NM_003641 CCDS41584 P13164 "7559564|32182730" MGI:1915963 RGD:1307601 604456 CD225 HGNC:5412 "ENST00000408968.4|NM_003641.5" -HGNC:5413 IFITM2 interferon induced transmembrane protein 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "1-8D|DSPA2c" dispanin subfamily A member 2c interferon induced transmembrane protein 2 (1-8D) Interferon induced transmembrane proteins 1598 2000-02-11 2012-03-13 2023-01-20 10581 ENSG00000185201 OTTHUMG00000165357 uc001lox.5 X57351 NM_006435 CCDS41583 Q01629 "1906403|21177806" MGI:1933382 RGD:69332 605578 HGNC:5413 "ENST00000616316.3|NM_006435.3" -HGNC:5414 IFITM3 interferon induced transmembrane protein 3 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "1-8U|DSPA2b" dispanin subfamily A member 2b interferon induced transmembrane protein 3 (1-8U) Interferon induced transmembrane proteins 1598 2000-02-11 2011-05-24 2023-01-20 10410 ENSG00000142089 OTTHUMG00000165542 uc001lpa.3 X57352 NM_021034 CCDS41585 Q01628 "1906403|16326387" MGI:1913391 RGD:1595844 605579 HGNC:5414 "ENST00000399808.5|NM_021034.3" +HGNC:5412 IFITM1 interferon induced transmembrane protein 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "9-27|CD225|DSPA2a" "interferon-induced transmembrane protein 1|dispanin subfamily A member 2a" IFI17 interferon induced transmembrane protein 1 (9-27) "CD molecules|Interferon induced transmembrane protein family|Dispanins" "471|1598|1600" 2000-02-11 2012-03-13 2023-01-20 8519 ENSG00000185885 OTTHUMG00000165359 uc057xel.1 J04164 NM_003641 CCDS41584 P13164 "7559564|32182730" MGI:1915963 RGD:1307601 604456 CD225 HGNC:5412 "ENST00000408968.4|NM_003641.5" +HGNC:5413 IFITM2 interferon induced transmembrane protein 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "1-8D|DSPA2c" dispanin subfamily A member 2c interferon induced transmembrane protein 2 (1-8D) "Interferon induced transmembrane protein family|Dispanins" "1598|1600" 2000-02-11 2012-03-13 2023-01-20 10581 ENSG00000185201 OTTHUMG00000165357 uc001lox.5 X57351 NM_006435 CCDS41583 Q01629 "1906403|21177806" MGI:1933382 RGD:69332 605578 HGNC:5413 "ENST00000616316.3|NM_006435.3" +HGNC:5414 IFITM3 interferon induced transmembrane protein 3 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "1-8U|DSPA2b" dispanin subfamily A member 2b interferon induced transmembrane protein 3 (1-8U) "Interferon induced transmembrane protein family|Dispanins" "1598|1600" 2000-02-11 2011-05-24 2023-01-20 10410 ENSG00000142089 OTTHUMG00000165542 uc001lpa.3 X57352 NM_021034 CCDS41585 Q01628 "1906403|16326387" MGI:1913391 RGD:1595844 605579 HGNC:5414 "ENST00000399808.5|NM_021034.3" HGNC:54538 IFITM3P1 IFITM3 pseudogene 1 pseudogene pseudogene Approved 4q13.2 04q13.2 2019-10-11 2019-10-11 728048 ENSG00000236562 NG_006204 HGNC:54538 HGNC:54539 IFITM3P2 IFITM3 pseudogene 2 pseudogene pseudogene Approved 12p11.21 12p11.21 DSPA2D 2019-10-11 2019-10-11 2019-10-11 144383 ENSG00000223722 NG_006205 HGNC:54539 HGNC:54541 IFITM3P3 IFITM3 pseudogene 3 pseudogene pseudogene Approved 6p21.31 06p21.31 2019-10-11 2019-10-11 100101247 ENSG00000196114 NG_006229 HGNC:54541 @@ -12539,11 +12540,11 @@ HGNC:54545 IFITM3P6 IFITM3P pseudogene 6 pseudogene pseudogene Approved 12q13.11 HGNC:54546 IFITM3P7 IFITM3 pseudogene 7 pseudogene pseudogene Approved 1p36.11 01p36.11 2019-10-11 2019-10-11 391020 ENSG00000233419 NG_006227 HGNC:54546 HGNC:54547 IFITM3P8 IFITM3 pseudogene 8 pseudogene pseudogene Approved 8q12.2 08q12.2 2019-10-11 2019-10-11 442389 ENSG00000271377 NG_006224 HGNC:54547 HGNC:54548 IFITM3P9 IFITM3 pseudogene 9 pseudogene pseudogene Approved 2p16.1 02p16.1 2019-10-11 2019-10-11 442017 ENSG00000271134 NG_006228 HGNC:54548 -HGNC:21669 IFITM4P interferon induced transmembrane protein 4 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 dJ377H14.5 Interferon induced transmembrane proteins 1598 2003-11-26 2014-11-19 340198 ENSG00000235821 OTTHUMG00000031097 NR_001590 PGOHUM00000263150 HGNC:21669 -HGNC:16644 IFITM5 interferon induced transmembrane protein 5 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "fragilis4|Hrmp1|BRIL|DSPA1" dispanin subfamily A member 1 Interferon induced transmembrane proteins 1598 2006-09-21 2023-01-20 387733 ENSG00000206013 OTTHUMG00000165355 uc001low.3 "AA463818|CR747200|DY654432" NM_001025295 CCDS31323 A6NNB3 "11106657|12659663|18442316" MGI:1934923 RGD:1307900 614757 308058 HGNC:16644 "ENST00000382614.2|NM_001025295.3" HGNC:16644 -HGNC:32202 IFITM8P interferon induced transmembrane protein 8 pseudogene pseudogene pseudogene Approved 8q12.3 08q12.3 Interferon induced transmembrane proteins 1598 2005-08-26 2014-11-19 613204 ENSG00000215096 OTTHUMG00000164395 DQ031534 NG_005307 PGOHUM00000257210 HGNC:32202 -HGNC:33972 IFITM9P interferon induced transmembrane protein 9 pseudogene pseudogene pseudogene Approved 11q13.3 11q13.3 lnc-MRGPRF-6 Interferon induced transmembrane proteins 1598 2008-01-31 2022-06-23 390218 ENSG00000213275 OTTHUMG00000167860 NG_006210 PGOHUM00000262863 HGNC:33972 -HGNC:40022 IFITM10 interferon induced transmembrane protein 10 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 DSPA3 dispanin subfamily A member 3 Interferon induced transmembrane proteins 1598 2011-05-06 2023-01-20 402778 ENSG00000244242 OTTHUMG00000043933 uc021qbs.3 NM_001170820 CCDS53593 A6NMD0 MGI:2444776 RGD:1563319 618293 HGNC:40022 "ENST00000340134.5|NM_001170820.4" +HGNC:21669 IFITM4P interferon induced transmembrane protein 4 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 dJ377H14.5 2003-11-26 2014-11-19 340198 ENSG00000235821 OTTHUMG00000031097 NR_001590 PGOHUM00000263150 HGNC:21669 +HGNC:16644 IFITM5 interferon induced transmembrane protein 5 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "fragilis4|Hrmp1|BRIL|DSPA1" dispanin subfamily A member 1 "Interferon induced transmembrane protein family|Dispanins" "1598|1600" 2006-09-21 2023-01-20 387733 ENSG00000206013 OTTHUMG00000165355 uc001low.3 "AA463818|CR747200|DY654432" NM_001025295 CCDS31323 A6NNB3 "11106657|12659663|18442316" MGI:1934923 RGD:1307900 614757 308058 HGNC:16644 "ENST00000382614.2|NM_001025295.3" HGNC:16644 +HGNC:32202 IFITM8P interferon induced transmembrane protein 8 pseudogene pseudogene pseudogene Approved 8q12.3 08q12.3 2005-08-26 2014-11-19 613204 ENSG00000215096 OTTHUMG00000164395 DQ031534 NG_005307 PGOHUM00000257210 HGNC:32202 +HGNC:33972 IFITM9P interferon induced transmembrane protein 9 pseudogene pseudogene pseudogene Approved 11q13.3 11q13.3 lnc-MRGPRF-6 2008-01-31 2022-06-23 390218 ENSG00000213275 OTTHUMG00000167860 NG_006210 PGOHUM00000262863 HGNC:33972 +HGNC:40022 IFITM10 interferon induced transmembrane protein 10 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 DSPA3 dispanin subfamily A member 3 "Interferon induced transmembrane protein family|Dispanins" "1598|1600" 2011-05-06 2023-01-20 402778 ENSG00000244242 OTTHUMG00000043933 uc021qbs.3 NM_001170820 CCDS53593 A6NMD0 MGI:2444776 RGD:1563319 618293 HGNC:40022 "ENST00000340134.5|NM_001170820.4" HGNC:5417 IFNA1 interferon alpha 1 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "IFNA@|IFL|IFN|IFN-ALPHA|IFNA13|IFN-alphaD" "IFN-alpha 1b|interferon alpha 1b" Interferons 598 1993-01-14 2016-06-13 2023-01-20 3439 ENSG00000197919 OTTHUMG00000019673 uc003zpd.2 NM_024013 CCDS6508 P01562 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" RGD:1306135 147660 ligandId:4955 HGNC:5417 "ENST00000276927.3|NM_024013.3" HGNC:5423 IFNA2 interferon alpha 2 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "IFNA|IFN-alphaA" "alpha-2a interferon|interferon alpha 2b|interferon alpha A" Interferons 598 1993-01-14 2016-06-13 2023-01-20 3440 ENSG00000188379 OTTHUMG00000019674 uc003zpb.4 NM_000605 CCDS6506 P01563 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147562 ligandId:4960 HGNC:5423 "ENST00000380206.4|NM_000605.4" HGNC:5425 IFNA4 interferon alpha 4 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "MGC142200|IFN-alpha4a" Interferons 598 1993-01-14 2016-06-13 2023-01-20 3441 ENSG00000236637 OTTHUMG00000019660 uc003zon.3 NM_021068 CCDS6498 P05014 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" RGD:1306334 147564 ligandId:4962 HGNC:5425 "ENST00000421715.3|NM_021068.4" @@ -12561,14 +12562,14 @@ HGNC:5422 IFNA17 interferon alpha 17 protein-coding gene gene with protein produ HGNC:5444 IFNA20P interferon alpha 20, pseudogene pseudogene pseudogene Approved 9p21.3 09p21.3 IFNP20 interferon pseudogene 20 Interferons 598 1993-01-14 2010-12-10 2016-06-13 2016-06-13 3463 ENSG00000226393 OTTHUMG00000019670 NG_027867 PGOHUM00000236405 HGNC:5444 HGNC:5424 IFNA21 interferon alpha 21 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFN-alphaI leukocyte interferon protein Interferons 598 1993-01-14 2016-06-13 2023-01-20 3452 ENSG00000137080 OTTHUMG00000019653 uc003zom.2 NM_002175 CCDS6497 P01568 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147584 ligandId:4961 HGNC:5424 "ENST00000380225.1|NM_002175.2" HGNC:5431 IFNA22P interferon alpha 22, pseudogene pseudogene pseudogene Approved 9p21.3 09p21.3 IFNAP22 interferon, alpha pseudogene 22 Interferons 598 1993-01-14 2010-01-08 2016-06-13 2016-10-05 3453 ENSG00000224416 OTTHUMG00000019668 V00539 NG_005640 "8001965|1385305" PGOHUM00000235992 HGNC:5431 -HGNC:5432 IFNAR1 interferon alpha and beta receptor subunit 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 IFRC "IFNalpha/beta receptor 1|type I interferon receptor 1|interferon alpha/beta receptor 1" IFNAR interferon (alpha, beta and omega) receptor 1 Interferon receptors 599 1986-01-01 2016-01-29 2023-01-20 3454 ENSG00000142166 OTTHUMG00000065126 uc002yrn.4 NM_000629 "CCDS93089|CCDS93090|CCDS93088|CCDS13624" P17181 8181059 MGI:107658 RGD:1305399 107450 objectId:1723 HGNC:5432 "ENST00000270139.8|NM_000629.3" -HGNC:5433 IFNAR2 interferon alpha and beta receptor subunit 2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "interferon alpha/beta receptor 2|IFNalpha/beta receptor subunit 2|type I interferon receptor 2" IFNABR interferon (alpha, beta and omega) receptor 2 Interferon receptors 599 1995-05-08 2016-01-29 2023-01-20 3455 ENSG00000159110 OTTHUMG00000065127 uc002yre.5 NM_000874 "CCDS13621|CCDS74782|CCDS13622" P48551 8181059 MGI:1098243 RGD:1583177 602376 470482 objectId:1724 HGNC:5433 "ENST00000342136.9|NM_001289125.3" HGNC:5433 +HGNC:5432 IFNAR1 interferon alpha and beta receptor subunit 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 IFRC "IFNalpha/beta receptor 1|type I interferon receptor 1|interferon alpha/beta receptor 1" IFNAR interferon (alpha, beta and omega) receptor 1 Interferon receptors 599 1986-01-01 2016-01-29 2023-01-20 3454 ENSG00000142166 OTTHUMG00000065126 uc002yrn.4 NM_000629 "CCDS93088|CCDS13624|CCDS93090|CCDS93089" P17181 8181059 MGI:107658 RGD:1305399 107450 objectId:1723 HGNC:5432 "ENST00000270139.8|NM_000629.3" +HGNC:5433 IFNAR2 interferon alpha and beta receptor subunit 2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "interferon alpha/beta receptor 2|IFNalpha/beta receptor subunit 2|type I interferon receptor 2" IFNABR interferon (alpha, beta and omega) receptor 2 Interferon receptors 599 1995-05-08 2016-01-29 2023-01-20 3455 ENSG00000159110 OTTHUMG00000065127 uc002yre.5 NM_000874 "CCDS74782|CCDS13622|CCDS13621" P48551 8181059 MGI:1098243 RGD:1583177 602376 470482 objectId:1724 HGNC:5433 "ENST00000342136.9|NM_001289125.3" HGNC:5433 HGNC:5434 IFNB1 interferon beta 1 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "IFB|IFF" IFNB interferon, beta 1, fibroblast Interferons 598 1986-01-01 2016-03-16 2023-01-20 3456 ENSG00000171855 OTTHUMG00000019652 uc003zok.4 NM_002176 CCDS6495 P01574 MGI:107657 RGD:2865 147640 ligandId:4967 HGNC:5434 "ENST00000380232.4|NM_002176.4" HGNC:18163 IFNE interferon epsilon protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFNE1 2008-12-12 2016-06-13 2023-01-20 338376 ENSG00000184995 OTTHUMG00000019672 uc003zpg.4 AY190045 NM_176891 CCDS34997 Q86WN2 "15546383|17287131" MGI:2667156 RGD:1565065 615223 HGNC:18163 "ENST00000448696.4|NM_176891.5" HGNC:5438 IFNG interferon gamma protein-coding gene gene with protein product Approved 12q15 12q15 Interferons 598 1986-01-01 2016-06-13 2023-01-20 3458 ENSG00000111537 OTTHUMG00000169113 uc001stw.2 NM_000619 CCDS8980 P01579 MGI:107656 RGD:2866 147570 122574 ligandId:4968 HGNC:5438 "ENST00000229135.4|NM_000619.3" HGNC:43910 IFNG-AS1 IFNG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q15 12q15 "Tmevpg1|LincR-Ifng-3'AS|NEST" Theiler's murine encephalomyelitis virus persistence candidate gene 1 IFNG antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-02 2012-08-15 2015-04-30 100885789 ENSG00000255733 OTTHUMG00000169108 uc058qot.1 "AK124066|BF510189" NR_104124 "11735227|24056746" MGI:1934663 ifng-as1 IFNG-AS1 HGNC:43910 -HGNC:5439 IFNGR1 interferon gamma receptor 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 CD119 IFNGR "CD molecules|Interferon receptors" "471|599" 1986-01-01 2023-01-20 3459 ENSG00000027697 OTTHUMG00000015656 uc003qho.3 NM_000416 "CCDS87446|CCDS87445|CCDS5185" P15260 MGI:107655 RGD:620570 "IFNGR1base: Mutation registry for IFNγ1-receptor deficiency|http://structure.bmc.lu.se/idbase/IFNGR1base/|LRG_66|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_66.xml" 107470 122576 objectId:1725 CD119 HGNC:5439 "ENST00000367739.9|NM_000416.3" HGNC:5439 -HGNC:5440 IFNGR2 interferon gamma receptor 2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 AF-1 IFNGT1 interferon gamma receptor 2 (interferon gamma transducer 1) "Fibronectin type III domain containing|Interferon receptors" "555|599" 1986-01-01 2017-01-05 2023-01-20 3460 ENSG00000159128 OTTHUMG00000065188 uc002yrp.4 NM_001329128 "CCDS33544|CCDS82660" P38484 3136170 MGI:107654 RGD:1307532 "IFNGR2base: Mutation registry for IFNγ2-receptor deficiency|http://structure.bmc.lu.se/idbase/IFNGR2base/|LRG_67|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_67.xml" 147569 122580 objectId:1726 HGNC:5440 "ENST00000290219.11|NM_005534.4" HGNC:5440 +HGNC:5439 IFNGR1 interferon gamma receptor 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 CD119 IFNGR "CD molecules|Interferon receptors" "471|599" 1986-01-01 2023-01-20 3459 ENSG00000027697 OTTHUMG00000015656 uc003qho.3 NM_000416 "CCDS5185|CCDS87445|CCDS87446" P15260 MGI:107655 RGD:620570 "IFNGR1base: Mutation registry for IFNγ1-receptor deficiency|http://structure.bmc.lu.se/idbase/IFNGR1base/|LRG_66|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_66.xml" 107470 122576 objectId:1725 CD119 HGNC:5439 "ENST00000367739.9|NM_000416.3" HGNC:5439 +HGNC:5440 IFNGR2 interferon gamma receptor 2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 AF-1 IFNGT1 interferon gamma receptor 2 (interferon gamma transducer 1) "Fibronectin type III domain containing|Interferon receptors" "555|599" 1986-01-01 2017-01-05 2023-01-20 3460 ENSG00000159128 OTTHUMG00000065188 uc002yrp.4 NM_001329128 "CCDS82660|CCDS33544" P38484 3136170 MGI:107654 RGD:1307532 "IFNGR2base: Mutation registry for IFNγ2-receptor deficiency|http://structure.bmc.lu.se/idbase/IFNGR2base/|LRG_67|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_67.xml" 147569 122580 objectId:1726 HGNC:5440 "ENST00000290219.11|NM_005534.4" HGNC:5440 HGNC:21714 IFNK interferon kappa protein-coding gene gene with protein product Approved 9p21.2 09p21.2 interferon, kappa Interferons 598 2004-02-10 2016-03-16 2023-01-20 56832 ENSG00000147896 OTTHUMG00000019715 uc003zqp.3 AF384048 NM_020124 CCDS6521 Q9P0W0 "12391192|11514542" MGI:2683287 RGD:1309045 615326 ligandId:4969 HGNC:21714 "ENST00000276943.3|NM_020124.3" HGNC:18363 IFNL1 interferon lambda 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 IL-29 IL29 "interleukin 29|interleukin 29 (interferon, lambda 1)" Interferons 598 2002-12-02 2012-11-26 2016-06-13 2023-01-20 282618 ENSG00000182393 OTTHUMG00000182807 uc002okv.4 AY129150 NM_172140 CCDS12531 Q8IU54 "MGI:3647279|MGI:2450574" RGD:6493686 607403 ligandId:4993 HGNC:18363 "ENST00000333625.3|NM_172140.2" HGNC:18364 IFNL2 interferon lambda 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 IL-28A IL28A "interleukin 28A|interleukin 28A (interferon, lambda 2)" Interferons 598 2002-12-02 2012-11-26 2016-06-13 2023-01-20 282616 ENSG00000183709 OTTHUMG00000182806 uc002oku.2 AY129148 NM_172138 CCDS42567 Q8IZJ0 "MGI:3647279|MGI:2450574" 607401 ligandId:4991 HGNC:18364 "ENST00000331982.6|NM_172138.2" @@ -12576,7 +12577,7 @@ HGNC:18365 IFNL3 interferon lambda 3 protein-coding gene gene with protein produ HGNC:44483 IFNL3P1 interferon lambda 3 pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 IL28BP1 interleukin 28B (interferon, lambda 3) pseudogene 1 2012-11-07 2012-11-26 2016-06-13 2016-06-13 100421129 ENSG00000268510 OTTHUMG00000182804 NG_024181 PGOHUM00000234310 HGNC:44483 HGNC:44480 IFNL4 interferon lambda 4 (gene/pseudogene) protein-coding gene gene with protein product Approved 19q13.2 19q13.2 IFNAN 2013-01-04 2016-06-13 2020-09-23 101180976 ENSG00000272395 OTTHUMG00000185299 uc060yjc.2 JN806234 NM_001276254 K9M1U5 "23291588|31776283" 615090 407416 HGNC:44480 HGNC:45090 IFNL4P1 interferon lambda 4 pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 2014-01-03 2016-06-13 2016-06-13 101927833 ENSG00000272311 OTTHUMG00000185300 HGNC:45090 -HGNC:18584 IFNLR1 interferon lambda receptor 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "CRF2/12|IFNLR|IL-28R1" IL28RA "interleukin 28 receptor, alpha|interleukin 28 receptor, alpha (interferon, lambda receptor)|interferon, lambda receptor 1" Interferon receptors 599 2002-12-02 2012-11-26 2016-03-16 2023-01-20 163702 ENSG00000185436 OTTHUMG00000003036 uc001bis.4 AY129153 NM_170743 "CCDS249|CCDS250|CCDS248" Q8IU57 MGI:2429859 RGD:1562689 607404 objectId:1733 HGNC:18584 "ENST00000327535.6|NM_170743.4" +HGNC:18584 IFNLR1 interferon lambda receptor 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "CRF2/12|IFNLR|IL-28R1" IL28RA "interleukin 28 receptor, alpha|interleukin 28 receptor, alpha (interferon, lambda receptor)|interferon, lambda receptor 1" Interferon receptors 599 2002-12-02 2012-11-26 2016-03-16 2023-01-20 163702 ENSG00000185436 OTTHUMG00000003036 uc001bis.4 AY129153 NM_170743 "CCDS249|CCDS248|CCDS250" Q8IU57 MGI:2429859 RGD:1562689 607404 objectId:1733 HGNC:18584 "ENST00000327535.6|NM_170743.4" HGNC:32009 IFNNP1 interferon nu 1, pseudogene pseudogene pseudogene Approved 9p21.3 09p21.3 interferon, nu 1 (pseudogene) Interferons 598 2006-02-09 2016-06-13 2016-06-13 654783 ENSG00000230208 OTTHUMG00000019655 AL390882 NG_009495 15922016 PGOHUM00000235986 HGNC:32009 HGNC:5447 IFNR interferon production regulator other unknown Approved 16 16 1986-01-01 2019-06-26 3466 "1906174|1193239" 147573 HGNC:5448 IFNW1 interferon omega 1 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFN-omega 1, interferon omega-1 Interferons 598 1992-11-06 2016-06-13 2023-01-20 3467 ENSG00000177047 OTTHUMG00000019656 uc003zol.2 NM_002177 CCDS6496 P05000 1385305 147553 ligandId:4970 HGNC:5448 "ENST00000380229.4|NM_002177.3" @@ -12587,16 +12588,16 @@ HGNC:5455 IFNWP9 interferon omega 1 pseudogene 9 pseudogene pseudogene Approved HGNC:5449 IFNWP15 interferon omega 1 pseudogene 15 pseudogene pseudogene Approved 9p21.3 09p21.3 interferon, omega 15 (pseudogene) Interferons 598 1993-01-14 2016-06-13 2016-06-13 100130866 ENSG00000232281 OTTHUMG00000019657 NG_001150 3857460 HGNC:5449 HGNC:5450 IFNWP18 interferon omega 1 pseudogene 18 pseudogene pseudogene Approved 9p21.3 09p21.3 pseudo-IFN-alpha-m interferon, omega 18 (pseudogene) Interferons 598 1993-01-14 2016-06-13 2016-06-13 360001 ENSG00000223684 OTTHUMG00000019661 V00531 NG_002922 1385305 HGNC:5450 HGNC:5451 IFNWP19 interferon omega 1 pseudogene 19 pseudogene pseudogene Approved 9p21.3 09p21.3 interferon, omega 19 (pseudogene) Interferons 598 1993-01-14 2016-06-13 2016-06-13 3474 ENSG00000238271 OTTHUMG00000019680 NG_005641 1385305 PGOHUM00000236408 HGNC:5451 -HGNC:5456 IFRD1 interferon related developmental regulator 1 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "PC4|TIS7" interferon-related developmental regulator 1 Armadillo like helical domain containing 1492 1998-01-21 2016-02-03 2023-01-20 3475 ENSG00000006652 OTTHUMG00000155124 uc003vgh.4 Y10313 NM_001550 "CCDS34736|CCDS56504" O00458 9722946 MGI:1316717 RGD:2867 603502 201522 HGNC:5456 "ENST00000403825.8|NM_001550.4" HGNC:5456 +HGNC:5456 IFRD1 interferon related developmental regulator 1 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "PC4|TIS7" interferon-related developmental regulator 1 Armadillo like helical domain containing 1492 1998-01-21 2016-02-03 2023-01-20 3475 ENSG00000006652 OTTHUMG00000155124 uc003vgh.4 Y10313 NM_001550 "CCDS56504|CCDS34736" O00458 9722946 MGI:1316717 RGD:2867 603502 201522 HGNC:5456 "ENST00000403825.8|NM_001550.4" HGNC:5456 HGNC:5457 IFRD2 interferon related developmental regulator 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SKMc15|SM15|IFNRP" interferon-related protein Armadillo like helical domain containing 1492 1998-09-25 2016-06-28 2023-01-20 7866 ENSG00000214706 OTTHUMG00000156935 uc062kcu.1 U09585 NM_006764 CCDS77746 Q12894 9050919 MGI:1316708 RGD:1310222 602725 HGNC:5457 "ENST00000417626.8|NM_006764.5" -HGNC:30989 IFT20 intraflagellar transport 20 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 intraflagellar transport 20 homolog (Chlamydomonas) IFT-B2 complex 1981 2005-11-02 2014-07-03 2023-01-20 90410 ENSG00000109083 OTTHUMG00000179412 uc002haw.3 AF070643 NM_174887 "CCDS58535|CCDS32593|CCDS58533|CCDS74017|CCDS58534" Q8IY31 MGI:1915585 RGD:1309400 614394 HGNC:30989 "ENST00000395418.8|NM_001267776.2" -HGNC:21895 IFT22 intraflagellar transport 22 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FLJ14117|FLJ13225|DKFZp761N0823|FAP9|CFAP9" RABL5 "RAB, member RAS oncogene family-like 5|intraflagellar transport 22 homolog (Chlamydomonas)" "RAB like GTPases|IFT-B1 complex" "394|1980" 2004-01-29 2014-03-06 2014-07-03 2023-01-20 64792 ENSG00000128581 OTTHUMG00000157136 AK024179 NM_022777 "CCDS5719|CCDS47670|CCDS47671" Q9H7X7 "19240117|22076686" MGI:1914536 RGD:1305370 HGNC:21895 "ENST00000315322.10|NM_022777.4" -HGNC:25019 IFT25 intraflagellar transport 25 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "HSPCO34|PP25|FAP232|CFAP232" intraflagellar transport 25 homolog (Chlamydomonas) "C1orf41|HSPB11" "chromosome 1 open reading frame 41|heat shock protein family B (small), member 11|heat shock protein family B (small) member 11" "Small heat shock proteins|IFT-B1 complex" "585|1980" 2004-06-24 2022-12-01 2022-12-01 2023-01-20 51668 ENSG00000081870 OTTHUMG00000008408 uc001cwh.4 AF100747 NM_016126 "CCDS90960|CCDS41341" Q9Y547 "11042152|19253336" MGI:1920188 RGD:1596413 470476 HGNC:25019 "ENST00000194214.10|NM_016126.4" +HGNC:30989 IFT20 intraflagellar transport 20 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 intraflagellar transport 20 homolog (Chlamydomonas) IFT-B2 complex 1981 2005-11-02 2014-07-03 2023-01-20 90410 ENSG00000109083 OTTHUMG00000179412 uc002haw.3 AF070643 NM_174887 "CCDS58533|CCDS32593|CCDS58535|CCDS74017|CCDS58534" Q8IY31 MGI:1915585 RGD:1309400 614394 HGNC:30989 "ENST00000395418.8|NM_001267776.2" +HGNC:21895 IFT22 intraflagellar transport 22 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FLJ14117|FLJ13225|DKFZp761N0823|FAP9|CFAP9" RABL5 "RAB, member RAS oncogene family-like 5|intraflagellar transport 22 homolog (Chlamydomonas)" "RAB like GTPases|IFT-B1 complex" "394|1980" 2004-01-29 2014-03-06 2014-07-03 2023-01-20 64792 ENSG00000128581 OTTHUMG00000157136 AK024179 NM_022777 "CCDS47670|CCDS5719|CCDS47671" Q9H7X7 "19240117|22076686" MGI:1914536 RGD:1305370 HGNC:21895 "ENST00000315322.10|NM_022777.4" +HGNC:25019 IFT25 intraflagellar transport 25 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "HSPCO34|PP25|FAP232|CFAP232" intraflagellar transport 25 homolog (Chlamydomonas) "C1orf41|HSPB11" "chromosome 1 open reading frame 41|heat shock protein family B (small), member 11|heat shock protein family B (small) member 11" "Small heat shock proteins|IFT-B1 complex" "585|1980" 2004-06-24 2022-12-01 2022-12-01 2023-01-20 51668 ENSG00000081870 OTTHUMG00000008408 uc001cwh.4 AF100747 NM_016126 "CCDS41341|CCDS90960" Q9Y547 "11042152|19253336" MGI:1920188 RGD:1596413 470476 HGNC:25019 "ENST00000194214.10|NM_016126.4" HGNC:18626 IFT27 intraflagellar transport 27 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "RAYL|BBS19|FAP156|CFAP156" RABL4 "RAB, member of RAS oncogene family-like 4|intraflagellar transport 27 homolog (Chlamydomonas)" "RAB like GTPases|IFT-B1 complex" "394|1980" 2002-05-09 2010-04-22 2014-07-03 2023-03-15 11020 ENSG00000100360 OTTHUMG00000150544 uc003apu.4 Z80897 NM_006860 "CCDS13932|CCDS54523" Q9BW83 "12529303|17276912" MGI:1914292 RGD:1308703 615870 404768 HGNC:18626 "ENST00000433985.7|NM_001177701.3" HGNC:18626 -HGNC:29669 IFT43 intraflagellar transport 43 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ32173|MGC16028" C14orf179 "chromosome 14 open reading frame 179|intraflagellar transport 43 homolog (Chlamydomonas)" IFT-A complex 1978 2006-06-19 2011-06-09 2014-07-03 2023-01-20 112752 ENSG00000119650 uc010asm.1 BC010436 NM_052873 "CCDS41973|CCDS9847|CCDS58330" Q96FT9 21378380 MGI:1923661 RGD:1307392 614068 270002 HGNC:29669 "ENST00000314067.11|NM_001102564.3" HGNC:29669 -HGNC:26146 IFT46 intraflagellar transport 46 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "C11orf2|FLJ21827|FAP32|CFAP32" cilia and flagella associated protein 32 C11orf60 "chromosome 11 open reading frame 60|intraflagellar transport 46 homolog (Chlamydomonas)" "Cilia and flagella associated|IFT-B1 complex" "1491|1980" 2006-03-09 2010-04-22 2014-07-03 2023-01-20 56912 ENSG00000118096 OTTHUMG00000166408 uc001ptp.2 AL136934 NM_020153 "CCDS53718|CCDS8399" Q9NQC8 "10873569|19253336" MGI:1923818 RGD:1307682 HGNC:26146 "ENST00000264021.8|NM_001168618.2" +HGNC:29669 IFT43 intraflagellar transport 43 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ32173|MGC16028" C14orf179 "chromosome 14 open reading frame 179|intraflagellar transport 43 homolog (Chlamydomonas)" IFT-A complex 1978 2006-06-19 2011-06-09 2014-07-03 2023-01-20 112752 ENSG00000119650 uc010asm.1 BC010436 NM_052873 "CCDS41973|CCDS58330|CCDS9847" Q96FT9 21378380 MGI:1923661 RGD:1307392 614068 270002 HGNC:29669 "ENST00000314067.11|NM_001102564.3" HGNC:29669 +HGNC:26146 IFT46 intraflagellar transport 46 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "C11orf2|FLJ21827|FAP32|CFAP32" cilia and flagella associated protein 32 C11orf60 "chromosome 11 open reading frame 60|intraflagellar transport 46 homolog (Chlamydomonas)" "Cilia and flagella associated|IFT-B1 complex" "1491|1980" 2006-03-09 2010-04-22 2014-07-03 2023-01-20 56912 ENSG00000118096 OTTHUMG00000166408 uc001ptp.2 AL136934 NM_020153 "CCDS8399|CCDS53718" Q9NQC8 "10873569|19253336" MGI:1923818 RGD:1307682 HGNC:26146 "ENST00000264021.8|NM_001168618.2" HGNC:15901 IFT52 intraflagellar transport 52 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CGI-53|NGD5|dJ1028D15.1|NGD2" C20orf9 "chromosome 20 open reading frame 9|intraflagellar transport 52 homolog (Chlamydomonas)" IFT-B1 complex 1980 2001-06-21 2005-11-02 2014-07-03 2023-01-20 51098 ENSG00000101052 OTTHUMG00000032513 uc002xkw.4 AF151811 NM_016004 CCDS33470 Q9Y366 10810093 MGI:2387217 RGD:1311004 617094 470484 HGNC:15901 "ENST00000373030.8|NM_016004.5" HGNC:15901 -HGNC:21882 IFT56 intraflagellar transport 56 protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ12571|dyf-13|DYF13" TTC26 tetratricopeptide repeat domain 26 "Tetratricopeptide repeat domain containing|IFT-B1 complex" "769|1980" 2006-03-17 2023-02-24 2023-02-24 2023-02-24 79989 ENSG00000105948 OTTHUMG00000157472 uc003vus.4 AK022633 NM_024926 "CCDS75665|CCDS55173|CCDS5852|CCDS55172|CCDS83230" A0AVF1 MGI:2444853 RGD:1561363 617453 HGNC:21882 "ENST00000464848.5|NM_024926.4" +HGNC:21882 IFT56 intraflagellar transport 56 protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ12571|dyf-13|DYF13" TTC26 tetratricopeptide repeat domain 26 "Tetratricopeptide repeat domain containing|IFT-B1 complex" "769|1980" 2006-03-17 2023-02-24 2023-02-24 2023-02-24 79989 ENSG00000105948 OTTHUMG00000157472 uc003vus.4 AK022633 NM_024926 "CCDS75665|CCDS55172|CCDS55173|CCDS83230|CCDS5852" A0AVF1 MGI:2444853 RGD:1561363 617453 HGNC:21882 "ENST00000464848.5|NM_024926.4" HGNC:17367 IFT57 intraflagellar transport 57 protein-coding gene gene with protein product Approved 3q13.12-q13.13 03q13.12-q13.13 "FLJ10147|HIPPI|MHS4R2" ESRRBL1 "estrogen-related receptor beta like 1|intraflagellar transport 57 homolog (Chlamydomonas)" IFT-B2 complex 1981 2002-01-18 2005-11-02 2014-07-03 2023-01-20 55081 ENSG00000114446 OTTHUMG00000159223 uc003dwx.4 AK001009 NM_018010 CCDS2951 Q9NWB7 MGI:1921166 RGD:1305947 606621 470486 HGNC:17367 "ENST00000264538.4|NM_018010.4" HGNC:56830 IFT57P1 IFT57 pseudogene 1 pseudogene pseudogene Approved 12p11.22 12p11.22 2023-05-05 2023-05-05 100129646 ENSG00000255951 NG_021709 PGOHUM00000291596 HGNC:25853 IFT70A intraflagellar transport 70A protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "FLJ13946|FAP259|CFAP259" TTC30A tetratricopeptide repeat domain 30A "Tetratricopeptide repeat domain containing|IFT-B1 complex" "769|1980" 2006-07-11 2023-02-24 2023-02-24 2023-02-24 92104 ENSG00000197557 OTTHUMG00000132528 uc002ulo.4 AK024008 NM_152275 CCDS2276 Q86WT1 20534810 "MGI:1926052|MGI:3700200" RGD:1560121 HGNC:25853 "ENST00000355689.6|NM_152275.4" @@ -12605,13 +12606,13 @@ HGNC:21424 IFT74 intraflagellar transport 74 protein-coding gene gene with prote HGNC:49806 IFT74-AS1 IFT74 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p21.2 09p21.2 Antisense RNAs 1987 2014-03-06 2014-03-06 101929602 ENSG00000234676 OTTHUMG00000019709 "AA960898|AI214381" NR_121605 IFT74-AS1 HGNC:49806 HGNC:29262 IFT80 intraflagellar transport 80 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "KIAA1374|FAP167|CFAP167" WDR56 "WD repeat domain 56|intraflagellar transport 80 homolog (Chlamydomonas)" "WD repeat domain containing|IFT-B2 complex" "362|1981" 2005-02-25 2005-11-02 2014-07-03 2023-01-20 57560 ENSG00000068885 OTTHUMG00000158953 uc062pnb.1 AB037795 NM_020800 "CCDS3188|CCDS54668" Q9P2H3 10718198 MGI:1915509 RGD:1312006 611177 160278 HGNC:29262 "ENST00000326448.12|NM_020800.3" HGNC:29262 HGNC:14313 IFT81 intraflagellar transport 81 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "CDV-1R|MGC4027" CDV1 "carnitine deficiency-associated, expressed in ventricle 1|intraflagellar transport 81 homolog (Chlamydomonas)" IFT-B1 complex 1980 2001-01-04 2005-11-02 2014-07-03 2023-01-20 28981 ENSG00000122970 OTTHUMG00000169326 uc001tqi.4 AF139540 NM_014055 "CCDS41831|CCDS9142" Q8WYA0 11130971 MGI:1098597 RGD:727862 605489 470490 HGNC:14313 "ENST00000242591.10|NM_014055.4" HGNC:14313 -HGNC:20606 IFT88 intraflagellar transport 88 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "hTg737|Tg737|D13S1056E|MGC26259" polaris homolog TTC10 "tetratricopeptide repeat domain 10|intraflagellar transport 88 homolog (Chlamydomonas)" "Tetratricopeptide repeat domain containing|IFT-B1 complex" "769|1980" 2004-04-16 2005-11-02 2014-07-03 2023-01-20 8100 ENSG00000032742 OTTHUMG00000016517 uc001uni.4 AK058172 NM_006531 "CCDS31945|CCDS31944" Q13099 7633404 MGI:98715 RGD:1309717 600595 HGNC:20606 "ENST00000351808.10|NM_006531.5" HGNC:20606 -HGNC:13556 IFT122 intraflagellar transport 122 protein-coding gene gene with protein product Approved 3q21.3-q22.1 03q21.3-q22.1 "WDR140|WDR10p|SPG|FAP80|CFAP80" WDR10 "WD repeat domain 10|intraflagellar transport 122 homolog (Chlamydomonas)" "WD repeat domain containing|IFT-A complex" "362|1978" 2001-04-05 2005-11-02 2014-07-03 2023-03-15 55764 ENSG00000163913 OTTHUMG00000159516 uc003emm.5 AF244930 NM_018262 "CCDS93380|CCDS93372|CCDS93374|CCDS93375|CCDS93376|CCDS93377|CCDS3060|CCDS3062|CCDS93379|CCDS63770|CCDS3061|CCDS3059" Q9HBG6 11242542 MGI:1932386 RGD:1311302 606045 235207 HGNC:13556 "ENST00000348417.7|NM_052989.3" HGNC:13556 +HGNC:20606 IFT88 intraflagellar transport 88 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "hTg737|Tg737|D13S1056E|MGC26259" polaris homolog TTC10 "tetratricopeptide repeat domain 10|intraflagellar transport 88 homolog (Chlamydomonas)" "Tetratricopeptide repeat domain containing|IFT-B1 complex" "769|1980" 2004-04-16 2005-11-02 2014-07-03 2023-01-20 8100 ENSG00000032742 OTTHUMG00000016517 uc001uni.4 AK058172 NM_006531 "CCDS31944|CCDS31945" Q13099 7633404 MGI:98715 RGD:1309717 600595 HGNC:20606 "ENST00000351808.10|NM_006531.5" HGNC:20606 +HGNC:13556 IFT122 intraflagellar transport 122 protein-coding gene gene with protein product Approved 3q21.3-q22.1 03q21.3-q22.1 "WDR140|WDR10p|SPG|FAP80|CFAP80" WDR10 "WD repeat domain 10|intraflagellar transport 122 homolog (Chlamydomonas)" "WD repeat domain containing|IFT-A complex" "362|1978" 2001-04-05 2005-11-02 2014-07-03 2023-03-15 55764 ENSG00000163913 OTTHUMG00000159516 uc003emm.5 AF244930 NM_018262 "CCDS93376|CCDS3062|CCDS93375|CCDS93377|CCDS63770|CCDS93380|CCDS93372|CCDS3061|CCDS3059|CCDS93374|CCDS93379|CCDS3060" Q9HBG6 11242542 MGI:1932386 RGD:1311302 606045 235207 HGNC:13556 "ENST00000348417.7|NM_052989.3" HGNC:13556 HGNC:56385 IFT122P1 IFT122 pseudogene 1 pseudogene pseudogene Approved 3p25.2 03p25.2 2022-10-18 2022-10-18 127379724 ENSG00000250939 HGNC:56388 IFT122P2 IFT122 pseudogene 2 pseudogene pseudogene Approved 3q21.3 03q21.3 2022-10-18 2022-10-18 127379735 ENSG00000244932 PGOHUM00000299585 HGNC:56389 IFT122P3 IFT122 pseudogene 3 pseudogene pseudogene Approved 3q21.3 03q21.3 2022-10-18 2022-10-18 653712 ENSG00000231305 NR_034179 PGOHUM00000299167 HGNC:29077 IFT140 intraflagellar transport 140 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "gs114|KIAA0590" WDTC2 "WD and tetratricopeptide repeats 2|intraflagellar transport 140 homolog (Chlamydomonas)" "WD repeat domain containing|IFT-A complex" "362|1978" 2005-05-26 2005-11-02 2014-07-03 2023-01-20 9742 ENSG00000187535 OTTHUMG00000128585 uc002cmb.4 AB011162 NM_014714 CCDS10439 Q96RY7 9628581 MGI:2146906 RGD:2318759 614620 302892 HGNC:29077 "ENST00000426508.7|NM_014714.4" HGNC:29077 -HGNC:30391 IFT172 intraflagellar transport 172 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "SLB|wim|osm-1|NPHP17|BBS20" wimple homolog intraflagellar transport 172 homolog (Chlamydomonas) "WD repeat domain containing|IFT-B2 complex" "362|1981" 2005-11-02 2014-07-03 2023-01-20 26160 ENSG00000138002 OTTHUMG00000128425 uc002rku.4 AB033005 NM_015662 "CCDS92725|CCDS1755" Q9UG01 "10788441|10574461|24140113|26763875" MGI:2682064 RGD:620744 607386 371219 HGNC:30391 "ENST00000260570.8|NM_015662.3" HGNC:30391 +HGNC:30391 IFT172 intraflagellar transport 172 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "SLB|wim|osm-1|NPHP17|BBS20" wimple homolog intraflagellar transport 172 homolog (Chlamydomonas) "WD repeat domain containing|IFT-B2 complex" "362|1981" 2005-11-02 2014-07-03 2023-01-20 26160 ENSG00000138002 OTTHUMG00000128425 uc002rku.4 AB033005 NM_015662 "CCDS1755|CCDS92725" Q9UG01 "10788441|10574461|24140113|26763875" MGI:2682064 RGD:620744 607386 371219 HGNC:30391 "ENST00000260570.8|NM_015662.3" HGNC:30391 HGNC:25142 IFTAP intraflagellar transport associated protein protein-coding gene gene with protein product Approved 11p12 11p12 "FLJ38678|HEPIS|NWC" C11orf74 chromosome 11 open reading frame 74 2006-03-16 2019-11-14 2019-11-14 2023-01-20 119710 ENSG00000166352 OTTHUMG00000166397 uc031pzn.2 "AK095997|BC009561" NM_138787 "CCDS7904|CCDS60762" Q86VG3 "30476139|15971274|26703212|18433331" MGI:1915420 RGD:1309730 619270 HGNC:25142 "ENST00000334307.10|NM_138787.4" HGNC:5461 IGBP1 immunoglobulin binding protein 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 α4 alpha 4 IBP1 immunoglobulin (CD79A) binding protein 1 Protein phosphatase 2 modulatory subunits 1265 1997-09-05 2017-01-13 2023-01-20 3476 ENSG00000089289 OTTHUMG00000021767 uc004dxv.4 Y08915 NM_001370192 CCDS14396 P78318 9441740 MGI:1346500 RGD:62011 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGBP1 300139 122584 HGNC:5461 "ENST00000356413.5|NM_001551.3" HGNC:5461 HGNC:40295 IGBP1-AS1 IGBP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 IGBP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100873991 ENSG00000203588 OTTHUMG00000021766 uc064zsd.1 IGBP1-AS1 @@ -12627,15 +12628,15 @@ HGNC:5464 IGF1 insulin like growth factor 1 protein-coding gene gene with protei HGNC:5465 IGF1R insulin like growth factor 1 receptor protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "JTK13|CD221|IGFIR|MGC18216|IGFR" insulin-like growth factor 1 receptor "Receptor tyrosine kinases|CD molecules|Fibronectin type III domain containing|MicroRNA protein coding host genes" "321|471|555|1691" 1988-07-07 2015-11-23 2023-01-20 3480 ENSG00000140443 OTTHUMG00000149851 uc002bul.4 M69229 NM_000875 "CCDS73785|CCDS10378" P08069 1316909 MGI:96433 RGD:2869 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGF1R|LRG_1055|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1055.xml" 147370 138578 objectId:1801 CD221 HGNC:5465 "ENST00000650285.1|NM_000875.5" HGNC:5465 HGNC:5466 IGF2 insulin like growth factor 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ44734|IGF-II" "somatomedin A|preptin" C11orf43 "chromosome 11 open reading frame 43|insulin-like growth factor 2" "MicroRNA protein coding host genes|Neuropeptides" "1691|1902" 2001-06-22 2015-11-23 2023-01-20 3481 ENSG00000167244 OTTHUMG00000009395 uc001lvg.4 "M29645|AK025719" NM_000612 "CCDS44517|CCDS7728" P01344 "2450353|3167054" MGI:96434 RGD:2870 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGF2|LRG_1031|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1031.xml" 147470 159729 ligandId:4972 HGNC:5466 "ENST00000416167.7|NM_000612.6" HGNC:5466 HGNC:14062 IGF2-AS IGF2 antisense RNA non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 "PEG8|IGF2-AS1" "insulin-like growth factor 2 antisense 1 (non-protein coding)|IGF2 antisense RNA 1 (non-protein coding)" IGF2AS "insulin-like growth factor 2, antisense|IGF2 antisense RNA (non-protein coding)" Antisense RNAs 1987 2000-11-28 2012-04-04 2012-08-15 2023-03-15 51214 ENSG00000099869 OTTHUMG00000009557 uc001lvk.3 AB030733 NR_028043 Q6U949 10731720 MGI:1195257 610146 IGF2AS IGF2-AS HGNC:14062 -HGNC:28866 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 IMP-1 IGF II mRNA binding protein 1 insulin-like growth factor 2 mRNA binding protein 1 RNA binding motif containing 725 2006-02-09 2015-11-23 2023-01-20 10642 ENSG00000159217 OTTHUMG00000161173 uc002iom.4 AF198254 NM_006546 "CCDS11543|CCDS54138" Q9NZI8 "9891060|11992722" MGI:1890357 RGD:708580 608288 HGNC:28866 "ENST00000290341.8|NM_006546.4" -HGNC:28867 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "IMP-2|p62|P62" IGF II mRNA binding protein 2 insulin-like growth factor 2 mRNA binding protein 2 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2006-02-09 2015-11-23 2023-01-20 10644 ENSG00000073792 OTTHUMG00000074025 uc003fpo.4 BC021290 NM_006548 "CCDS3273|CCDS77869|CCDS33903|CCDS77870" Q9Y6M1 "10190901|9891060" MGI:1890358 RGD:1305614 608289 HGNC:28867 "ENST00000382199.7|NM_006548.6" HGNC:28867 +HGNC:28866 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 IMP-1 IGF II mRNA binding protein 1 insulin-like growth factor 2 mRNA binding protein 1 RNA binding motif containing 725 2006-02-09 2015-11-23 2023-01-20 10642 ENSG00000159217 OTTHUMG00000161173 uc002iom.4 AF198254 NM_006546 "CCDS54138|CCDS11543" Q9NZI8 "9891060|11992722" MGI:1890357 RGD:708580 608288 HGNC:28866 "ENST00000290341.8|NM_006546.4" +HGNC:28867 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "IMP-2|p62|P62" IGF II mRNA binding protein 2 insulin-like growth factor 2 mRNA binding protein 2 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2006-02-09 2015-11-23 2023-01-20 10644 ENSG00000073792 OTTHUMG00000074025 uc003fpo.4 BC021290 NM_006548 "CCDS3273|CCDS77870|CCDS77869|CCDS33903" Q9Y6M1 "10190901|9891060" MGI:1890358 RGD:1305614 608289 HGNC:28867 "ENST00000382199.7|NM_006548.6" HGNC:28867 HGNC:32674 IGF2BP2-AS1 IGF2BP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.2 03q27.2 FLJ32900 C3orf65 chromosome 3 open reading frame 65 Antisense RNAs 1987 2006-03-30 2014-10-01 2014-10-01 2014-11-19 646600 ENSG00000163915 OTTHUMG00000156643 AK057462 NR_027317 Q96M15 IGF2BP2-AS1 HGNC:32674 HGNC:28868 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "IMP-3|CT98|IMP3" "IGF II mRNA binding protein 3|cancer/testis antigen 98" insulin-like growth factor 2 mRNA binding protein 3 RNA binding motif containing 725 2006-02-09 2015-11-23 2023-01-20 10643 ENSG00000136231 OTTHUMG00000128445 uc003swg.4 AF117108 NM_006547 CCDS5382 O00425 "9891060|9178771" MGI:1890359 RGD:1306512 608259 HGNC:28868 "ENST00000258729.8|NM_006547.3" HGNC:5467 IGF2R insulin like growth factor 2 receptor protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "CD222|MPRI|MPR1|CIMPR|M6P-R|CI-M6PR|CI-MPR|MPR300" cation-independent mannose-6 phosphate receptor insulin-like growth factor 2 receptor "CD molecules|MRH domain containing " "471|1233" 1988-07-07 2015-11-23 2023-01-20 3482 ENSG00000197081 OTTHUMG00000015945 uc003qta.4 J03528 NM_000876 CCDS5273 P11717 MGI:96435 RGD:2871 LRG_1036|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1036.xml 147280 CD222 HGNC:5467 "ENST00000356956.6|NM_000876.4" -HGNC:5468 IGFALS insulin like growth factor binding protein acid labile subunit protein-coding gene gene with protein product Approved 16p13.3 16p13.3 ALS insulin-like growth factor binding protein, acid labile subunit 1997-11-28 2015-11-23 2023-01-20 3483 ENSG00000099769 OTTHUMG00000128638 uc002cmy.4 M86826 NM_001146006 "CCDS53982|CCDS10446" P35858 "1379671|16114275" MGI:107973 RGD:68429 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGFALS 601489 159982 HGNC:5468 "ENST00000215539.4|NM_004970.3" HGNC:5468 +HGNC:5468 IGFALS insulin like growth factor binding protein acid labile subunit protein-coding gene gene with protein product Approved 16p13.3 16p13.3 ALS insulin-like growth factor binding protein, acid labile subunit 1997-11-28 2015-11-23 2023-01-20 3483 ENSG00000099769 OTTHUMG00000128638 uc002cmy.4 M86826 NM_001146006 "CCDS10446|CCDS53982" P35858 "1379671|16114275" MGI:107973 RGD:68429 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGFALS 601489 159982 HGNC:5468 "ENST00000215539.4|NM_004970.3" HGNC:5468 HGNC:55655 IGFBP-AS1 IGFBP5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2021-06-30 2021-06-30 101928278 ENSG00000236886 XR_001739169 HGNC:5469 IGFBP1 insulin like growth factor binding protein 1 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "IGF-BP25|AFBP|hIGFBP-1|PP12" "placental protein 12|amniotic fluid binding protein|alpha-pregnancy-associated endometrial globulin|growth hormone independent-binding protein|binding protein-28|binding protein-26|binding protein-25|IGF-binding protein 1" IBP1 insulin-like growth factor binding protein 1 Insulin like growth factor binding proteins 1065 1988-11-30 2015-11-12 2023-01-20 3484 ENSG00000146678 OTTHUMG00000152343 uc003tnp.4 NM_000596 CCDS5504 P08833 2461294 MGI:96436 RGD:2872 146730 I31.951 HGNC:5469 "ENST00000275525.8|NM_000596.4" -HGNC:5471 IGFBP2 insulin like growth factor binding protein 2 protein-coding gene gene with protein product Approved 2q35 02q35 IBP2 "insulin-like growth factor binding protein 2 (36kD)|insulin-like growth factor binding protein 2, 36kDa|insulin-like growth factor binding protein 2" Insulin like growth factor binding proteins 1065 1991-07-09 2015-11-12 2023-01-20 3485 ENSG00000115457 OTTHUMG00000155341 uc061sgd.1 NM_000597 "CCDS82570|CCDS42815" P18065 1697583 MGI:96437 RGD:2873 146731 I31.953 HGNC:5471 "ENST00000233809.9|NM_000597.3" +HGNC:5471 IGFBP2 insulin like growth factor binding protein 2 protein-coding gene gene with protein product Approved 2q35 02q35 IBP2 "insulin-like growth factor binding protein 2 (36kD)|insulin-like growth factor binding protein 2, 36kDa|insulin-like growth factor binding protein 2" Insulin like growth factor binding proteins 1065 1991-07-09 2015-11-12 2023-01-20 3485 ENSG00000115457 OTTHUMG00000155341 uc061sgd.1 NM_000597 "CCDS42815|CCDS82570" P18065 1697583 MGI:96437 RGD:2873 146731 I31.953 HGNC:5471 "ENST00000233809.9|NM_000597.3" HGNC:5472 IGFBP3 insulin like growth factor binding protein 3 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "IBP3|BP-53" "growth hormone-dependent binding protein|acid stable subunit of the 140 K IGF complex|binding protein 53|binding protein 29|IGF-binding protein 3" insulin-like growth factor binding protein 3 Insulin like growth factor binding proteins 1065 1991-07-09 2015-11-12 2023-01-20 3486 ENSG00000146674 OTTHUMG00000023769 uc003tns.4 NM_001013398 "CCDS5505|CCDS34632" P17936 1695633 MGI:96438 RGD:2874 LRG_68|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_68.xml 146732 I31.952 HGNC:5472 "ENST00000613132.5|NM_000598.5" HGNC:5473 IGFBP4 insulin like growth factor binding protein 4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "IBP4|BP-4|HT29-IGFBP|IGFBP-4" IGF-binding protein 4 "insulin-like growth factor-binding protein 4|insulin-like growth factor binding protein 4" Insulin like growth factor binding proteins 1065 1991-07-09 2015-11-12 2023-01-20 3487 ENSG00000141753 OTTHUMG00000133326 uc002hus.4 M38177 NM_001552 CCDS11367 P22692 "1707125|1704481" MGI:96439 RGD:2875 146733 I31.952 HGNC:5473 "ENST00000269593.5|NM_001552.3" HGNC:5474 IGFBP5 insulin like growth factor binding protein 5 protein-coding gene gene with protein product Approved 2q35 02q35 insulin-like growth factor binding protein 5 Insulin like growth factor binding proteins 1065 1991-07-09 2015-11-12 2023-01-20 3488 ENSG00000115461 OTTHUMG00000133058 uc002vgj.5 NM_000599 CCDS2405 P24593 7511611 MGI:96440 RGD:2876 146734 I31.952 HGNC:5474 "ENST00000233813.5|NM_000599.4" @@ -12650,8 +12651,8 @@ HGNC:32929 IGFL2 IGF like family member 2 protein-coding gene gene with protein HGNC:52559 IGFL2-AS1 IGFL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.32 19q13.32 AC006262.5 Antisense RNAs 1987 2016-11-08 2022-12-07 645553 ENSG00000268621 OTTHUMG00000182496 NR_135234 "32956593|34052325" HGNC:52559 HGNC:32930 IGFL3 IGF like family member 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 UNQ483 IGF like family 1836 2006-07-14 2015-11-13 2023-01-20 388555 ENSG00000188624 OTTHUMG00000172904 uc002pea.1 AY358434 NM_207393 CCDS33058 Q6UXB1 14702039 MGI:2685426 RGD:2324129 610546 HGNC:32930 "ENST00000341415.3|NM_207393.2" HGNC:32931 IGFL4 IGF like family member 4 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 IGF like family 1836 2006-07-14 2015-11-13 2023-01-20 444882 ENSG00000204869 OTTHUMG00000182491 uc002pdy.1 AY672114 NM_001002923 CCDS33057 Q6B9Z1 14702039 MGI:2685426 610547 HGNC:32931 "ENST00000377697.2|NM_001002923.3" -HGNC:23620 IGFLR1 IGF like family receptor 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ22573 "U2AF1L4|TMEM149" "U2(RNU2) small nuclear RNA auxiliary factor 1-like 4|transmembrane protein 149" 2003-11-28 2011-04-04 2015-11-13 2023-01-20 79713 ENSG00000126246 OTTHUMG00000182064 uc002obd.5 AK026226 NM_024660 "CCDS86751|CCDS86752|CCDS12472" Q9H665 21454693 MGI:3655979 RGD:1563574 614143 HGNC:23620 "ENST00000246532.6|NM_024660.4" -HGNC:24607 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZp434B1231|EEF1A2BP1" "Fibronectin type III domain containing|I-set domain containing" "555|593" 2008-02-21 2019-02-21 2023-03-15 91156 ENSG00000163395 OTTHUMG00000035728 uc001gwc.3 AY245430 NM_178275 "CCDS53455|CCDS91141" Q86VF2 MGI:3045352 RGD:1565384 617309 470492 HGNC:24607 "ENST00000335211.9|NM_001164586.2" +HGNC:23620 IGFLR1 IGF like family receptor 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ22573 "U2AF1L4|TMEM149" "U2(RNU2) small nuclear RNA auxiliary factor 1-like 4|transmembrane protein 149" 2003-11-28 2011-04-04 2015-11-13 2023-01-20 79713 ENSG00000126246 OTTHUMG00000182064 uc002obd.5 AK026226 NM_024660 "CCDS86752|CCDS12472|CCDS86751" Q9H665 21454693 MGI:3655979 RGD:1563574 614143 HGNC:23620 "ENST00000246532.6|NM_024660.4" +HGNC:24607 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZp434B1231|EEF1A2BP1" "Fibronectin type III domain containing|I-set domain containing" "555|593" 2008-02-21 2019-02-21 2023-03-15 91156 ENSG00000163395 OTTHUMG00000035728 uc001gwc.3 AY245430 NM_178275 "CCDS91141|CCDS53455" Q86VF2 MGI:3045352 RGD:1565384 617309 470492 HGNC:24607 "ENST00000335211.9|NM_001164586.2" HGNC:5477 IGH immunoglobulin heavy locus protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "IGHDY1|IGH@" Immunoglobulin heavy locus at 14q32.33 349 1989-06-30 2013-03-05 2013-03-05 3492 NG_001019 "146910|147010|147070" 201163 HGNC:5477 HGNC:5478 IGHA1 immunoglobulin heavy constant alpha 1 other immunoglobulin gene Approved 14q32.33 14q32.33 AL928768.3 Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2022-07-13 3493 ENSG00000211895 OTTHUMG00000152494 uc059gcy.1 J00220 NG_001019 P01876 MGI:96444 146900 IGHA1 HGNC:5478 HGNC:5479 IGHA2 immunoglobulin heavy constant alpha 2 (A2m marker) other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2014-11-19 3494 ENSG00000211890 OTTHUMG00000152472 uc059gck.1 J00221 NG_001019 P01877 MGI:96444 147000 IGHA2 HGNC:5479 @@ -13097,8 +13098,8 @@ HGNC:5946 IGLVV-66 immunoglobulin lambda variable (V)-66 (pseudogene) pseudogene HGNC:15689 IGLVVI-22-1 immunoglobulin lambda variable (VI)-22-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(VI)-22-1 "immunoglobulin lambda variable (VI)-22-1|immunoglobulin lambda variable (VI)-22-1 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2001-05-15 2011-04-15 2016-10-05 84091 ENSG00000253546 OTTHUMG00000151219 X71351 NG_000002 IGLV(VI)-22-1 HGNC:15689 HGNC:15690 IGLVVI-25-1 immunoglobulin lambda variable (VI)-25-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(VI)-25-1 "immunoglobulin lambda variable (VI)-25-1|immunoglobulin lambda variable (VI)-25-1 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2001-05-15 2011-04-15 2016-10-05 84090 ENSG00000253779 OTTHUMG00000151586 D86994 NG_000002 IGLV(VI)-25-1 HGNC:15690 HGNC:15691 IGLVVII-41-1 immunoglobulin lambda variable (VII)-41-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(VII)-41-1 "immunoglobulin lambda variable (VII)-41-1|immunoglobulin lambda variable (VII)-41-1 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2001-05-15 2011-04-15 2016-10-05 84089 ENSG00000254073 OTTHUMG00000151296 X99568 NG_000002 PGOHUM00000246467 IGLV(VII)-41-1 HGNC:15691 -HGNC:5948 IGSF1 immunoglobulin superfamily member 1 protein-coding gene gene with protein product Approved Xq25 Xq25 "KIAA0364|IGDC1|IGCD1|INHBP|MGC75490|PGSF2" immunoglobulin superfamily, member 1 Immunoglobulin like domain containing 594 1997-10-27 2015-11-18 2023-01-20 3547 ENSG00000147255 OTTHUMG00000022406 uc004ewd.5 AF034198 NM_001170961 "CCDS14630|CCDS14629|CCDS55491|CCDS55490" Q8N6C5 "9521868|9729118" MGI:2147913 RGD:631402 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGSF1|LRG_840|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_840.xml" 300137 330232 I43.951 HGNC:5948 "ENST00000361420.8|NM_001555.5" HGNC:5948 -HGNC:5950 IGSF3 immunoglobulin superfamily member 3 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "V8|EWI-3|MGC117164" immunoglobulin superfamily, member 3 V-set domain containing 590 1998-08-13 2015-11-18 2023-01-20 3321 ENSG00000143061 OTTHUMG00000022751 uc057jsm.1 AF031174 NM_001542 "CCDS30814|CCDS30813" O75054 9790749 MGI:1926158 RGD:1307796 603491 419348 HGNC:5950 "ENST00000369486.8|NM_001007237.3" HGNC:5950 +HGNC:5948 IGSF1 immunoglobulin superfamily member 1 protein-coding gene gene with protein product Approved Xq25 Xq25 "KIAA0364|IGDC1|IGCD1|INHBP|MGC75490|PGSF2" immunoglobulin superfamily, member 1 Immunoglobulin like domain containing 594 1997-10-27 2015-11-18 2023-01-20 3547 ENSG00000147255 OTTHUMG00000022406 uc004ewd.5 AF034198 NM_001170961 "CCDS14629|CCDS14630|CCDS55491|CCDS55490" Q8N6C5 "9521868|9729118" MGI:2147913 RGD:631402 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGSF1|LRG_840|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_840.xml" 300137 330232 I43.951 HGNC:5948 "ENST00000361420.8|NM_001555.5" HGNC:5948 +HGNC:5950 IGSF3 immunoglobulin superfamily member 3 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "V8|EWI-3|MGC117164" immunoglobulin superfamily, member 3 V-set domain containing 590 1998-08-13 2015-11-18 2023-01-20 3321 ENSG00000143061 OTTHUMG00000022751 uc057jsm.1 AF031174 NM_001542 "CCDS30813|CCDS30814" O75054 9790749 MGI:1926158 RGD:1307796 603491 419348 HGNC:5950 "ENST00000369486.8|NM_001007237.3" HGNC:5950 HGNC:55895 IGSF3P1 IGSF3 pseudogene 1 pseudogene pseudogene Approved 13q11 13q11 2021-09-30 2021-09-30 122965330 ENSG00000279124 NG_084032 PGOHUM00000291847 HGNC:55896 IGSF3P2 IGSF3 pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2021-09-30 2021-09-30 100289350 ENSG00000223703 NG_021569 PGOHUM00000298539 HGNC:5952 IGSF5 immunoglobulin superfamily member 5 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 JAM4 junctional adhesion molecule 4 immunoglobulin superfamily, member 5 "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 2000-05-23 2015-11-18 2023-01-20 150084 ENSG00000183067 OTTHUMG00000086724 uc002yyo.3 NM_001080444 CCDS33562 Q9NSI5 MGI:1919308 RGD:1359642 610638 HGNC:5952 "ENST00000380588.5|NM_001080444.2" @@ -13107,7 +13108,7 @@ HGNC:17813 IGSF8 immunoglobulin superfamily member 8 protein-coding gene gene wi HGNC:18132 IGSF9 immunoglobulin superfamily member 9 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "KIAA1355|Nrt1|IGSF9A" turtle (Drosophila) homolog A immunoglobulin superfamily, member 9 "Fibronectin type III domain containing|I-set domain containing" "555|593" 2002-05-29 2015-11-18 2023-01-20 57549 ENSG00000085552 OTTHUMG00000022794 uc001fur.2 AB037776 NM_020789 "CCDS1190|CCDS44254" Q9P2J2 "11991715|11312296" MGI:2135283 RGD:1304566 609738 HGNC:18132 "ENST00000368094.6|NM_001135050.2" HGNC:32326 IGSF9B immunoglobulin superfamily member 9B protein-coding gene gene with protein product Approved 11q25 11q25 "KIAA1030|LINC00947|LOC283174" turtle (Drosophila) homolog B MIR4697HG "immunoglobulin superfamily, member 9B|MIR4697 host gene|MIR4697 host gene (non-protein coding)" "Fibronectin type III domain containing|V-set domain containing|I-set domain containing" "555|590|593" 2005-10-12 2005-11-20 2015-11-18 2023-03-15 22997 ENSG00000080854 OTTHUMG00000167124 uc031qfh.2 AK097578 NM_001277285 CCDS61010 Q9UPX0 MGI:2685354 RGD:1564717 613773 HGNC:32326 "ENST00000533871.8|NM_001277285.4" HGNC:26384 IGSF10 immunoglobulin superfamily member 10 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "FLJ25972|CMF608" immunoglobulin superfamily, member 10 "I-set domain containing|MicroRNA protein coding host genes" "593|1691" 2004-03-04 2015-11-18 2023-01-20 285313 ENSG00000152580 OTTHUMG00000159856 uc011bod.3 AY273815 NM_178822 CCDS3160 Q6WRI0 27137492 MGI:1923481 RGD:735030 617351 470494 HGNC:26384 "ENST00000282466.4|NM_178822.5" -HGNC:16669 IGSF11 immunoglobulin superfamily member 11 protein-coding gene gene with protein product Approved 3q13.32 03q13.32 "BT-IgSF|MGC35227|Igsf13|VSIG3|CT119" cancer/testis antigen 119 immunoglobulin superfamily, member 11 "I-set domain containing|IgCAM CXADR-related subfamily" "593|1414" 2002-12-04 2015-11-18 2023-01-20 152404 ENSG00000144847 OTTHUMG00000159387 uc010hqs.5 AB079879 NM_001015887 "CCDS87125|CCDS46891|CCDS2983|CCDS87124|CCDS87123" Q5DX21 12207903 MGI:2388477 RGD:1308758 608351 HGNC:16669 "ENST00000393775.7|NM_001015887.3" +HGNC:16669 IGSF11 immunoglobulin superfamily member 11 protein-coding gene gene with protein product Approved 3q13.32 03q13.32 "BT-IgSF|MGC35227|Igsf13|VSIG3|CT119" cancer/testis antigen 119 immunoglobulin superfamily, member 11 "I-set domain containing|IgCAM CXADR-related subfamily" "593|1414" 2002-12-04 2015-11-18 2023-01-20 152404 ENSG00000144847 OTTHUMG00000159387 uc010hqs.5 AB079879 NM_001015887 "CCDS87123|CCDS87124|CCDS87125|CCDS46891|CCDS2983" Q5DX21 12207903 MGI:2388477 RGD:1308758 608351 HGNC:16669 "ENST00000393775.7|NM_001015887.3" HGNC:40777 IGSF11-AS1 IGSF11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.32 03q13.32 IGSF11 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100506765 ENSG00000239877 OTTHUMG00000159386 uc003eca.5 NR_046230 IGSF11-AS1 HGNC:40777 HGNC:28246 IGSF21 immunoglobin superfamily member 21 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "MGC15730|RP11-121A23.1" immunoglobin superfamily, member 21 V-set domain containing 590 2005-07-21 2015-11-18 2023-01-20 84966 ENSG00000117154 OTTHUMG00000002432 uc001bau.3 AK075316 NM_032880 CCDS184 Q96ID5 28864826 MGI:2681842 RGD:1310117 HGNC:28246 "ENST00000251296.4|NM_032880.5" HGNC:41190 IGSF21-AS1 IGSF21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Antisense RNAs 1987 2017-10-25 2017-10-25 105376814 ENSG00000230035 OTTHUMG00000002434 XR_001737917 HGNC:41190 @@ -13117,50 +13118,50 @@ HGNC:40040 IGSF23 immunoglobulin superfamily member 23 protein-coding gene gene HGNC:5956 IHH Indian hedgehog signaling molecule protein-coding gene gene with protein product Approved 2q35 02q35 "HHG2|BDA1" Indian hedgehog (Drosophila) homolog "Hedgehog signaling molecule family|MicroRNA protein coding host genes" "1373|1691" 1995-03-21 2018-11-15 2023-01-20 3549 ENSG00000163501 OTTHUMG00000154631 uc002vjo.3 L38517 NM_002181 CCDS33380 Q14623 "7590746|14770182" MGI:96533 RGD:620021 600726 122605 C46.003 HGNC:5956 "ENST00000295731.7|NM_002181.4" HGNC:5956 HGNC:27945 IHO1 interactor of HORMAD1 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ25320|CT74|LELA1" cancer/testis antigen 74 CCDC36 coiled-coil domain containing 36 2005-11-02 2020-03-06 2020-03-06 2023-01-20 339834 ENSG00000173421 OTTHUMG00000155920 uc003cwk.3 AK058049 NM_178173 CCDS33755 Q8IYA8 27723721 MGI:3612242 RGD:1596869 619190 HGNC:27945 "ENST00000452691.7|NM_001135197.2" HGNC:5958 IK IK cytokine protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "RED|RER" IK cytokine, down-regulator of HLA II "Spliceosomal B complex|MicroRNA protein coding host genes" "1507|1691" 1996-06-12 2017-09-14 2023-01-20 3550 ENSG00000113141 OTTHUMG00000163374 uc003lgq.4 BC051295 NM_006083 CCDS47280 Q13123 7970704 MGI:1345142 RGD:1359352 600549 HGNC:5958 "ENST00000417647.7|NM_006083.4" -HGNC:26430 IKBIP IKBKB interacting protein protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FLJ31051|IKIP" I kappa B kinase interacting protein 2009-10-05 2023-01-20 121457 ENSG00000166130 OTTHUMG00000170213 uc001tfx.5 AJ539425 NM_153687 "CCDS9067|CCDS41822|CCDS9068" Q70UQ0 15389287 MGI:1914704 RGD:1305457 609861 HGNC:26430 "ENST00000299157.5|NM_153687.4" +HGNC:26430 IKBIP IKBKB interacting protein protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FLJ31051|IKIP" I kappa B kinase interacting protein 2009-10-05 2023-01-20 121457 ENSG00000166130 OTTHUMG00000170213 uc001tfx.5 AJ539425 NM_153687 "CCDS9068|CCDS9067|CCDS41822" Q70UQ0 15389287 MGI:1914704 RGD:1305457 609861 HGNC:26430 "ENST00000299157.5|NM_153687.4" HGNC:5960 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "IKK2|NFKBIKB|IKK-beta|IKKB" inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta "I kappa B kinases|IKK complex" "1802|1817" 1998-02-11 2016-12-21 2023-03-15 3551 ENSG00000104365 OTTHUMG00000164092 uc003xow.3 AF029684 NM_001190720 "CCDS55228|CCDS6128" O14920 "9878263|9763654|18308615" MGI:1338071 RGD:621375 LRG_1241|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1241.xml IKBKB 603258 401771 objectId:2039 HGNC:5960 "ENST00000520810.6|NM_001556.3" HGNC:5960 HGNC:55254 IKBKB-DT IKBKB divergent transcript non-coding RNA RNA, long non-coding Approved 8p11.21 08p11.21 "RP11-231D20.2|ALAL-1" amplified lncRNA associated with lung cancer-1 Divergent transcripts 1990 2020-09-25 2021-09-27 101929897 ENSG00000253408 NR_125823 32858747 -HGNC:14552 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "IKKE|IKK-i|KIAA0151" inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon "MicroRNA protein coding host genes|I kappa B kinases" "1691|1802" 2002-12-02 2017-01-13 2023-01-20 9641 ENSG00000263528 OTTHUMG00000184613 uc001hdz.3 AB016590 NM_001193321 "CCDS53464|CCDS30996|CCDS73019" Q14164 "10421793|10882136" MGI:1929612 RGD:1308352 605048 objectId:2040 HGNC:14552 "ENST00000581977.7|NM_014002.4" +HGNC:14552 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "IKKE|IKK-i|KIAA0151" inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon "MicroRNA protein coding host genes|I kappa B kinases" "1691|1802" 2002-12-02 2017-01-13 2023-01-20 9641 ENSG00000263528 OTTHUMG00000184613 uc001hdz.3 AB016590 NM_001193321 "CCDS30996|CCDS73019|CCDS53464" Q14164 "10421793|10882136" MGI:1929612 RGD:1308352 605048 objectId:2040 HGNC:14552 "ENST00000581977.7|NM_014002.4" HGNC:32061 IKBKE-AS1 IKBKE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 FLJ32597 C1orf147 "chromosome 1 open reading frame 147|chromosome 1 putative open reading frame 147" Antisense RNAs 1987 2005-07-12 2022-09-23 2022-09-23 2022-09-23 574431 ENSG00000162888 OTTHUMG00000036338 uc057owx.1 NR_172918 Q96MC9 -HGNC:5961 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma protein-coding gene gene with protein product Approved Xq28 Xq28 "IKK-gamma|NEMO|Fip3p|FIP-3|FIP3|ZC2HC9|IKKAP1|IKKG" "NF-kappa-B essential modulator|IkB kinase-associated protein 1|I-kappa-B kinase subunit gamma|IkB kinase subunit gamma|14.7K (adenovirus E3 protein) interacting protein 3" "IP2|IP1" "incontinentia pigmenti|inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma|inhibitor of nuclear factor kappa B kinase subunit gamma" "Zinc fingers C2HC-type|IKK complex" "66|1817" 1998-09-30 2019-02-14 2023-01-20 8517 ENSG00000269335 OTTHUMG00000024234 uc033fbv.2 AF074382 NM_003639 "CCDS83513|CCDS48197|CCDS14757|CCDS48196" Q9Y6K9 "9751060|10087442|11590134|11242109" MGI:1338074 RGD:735223 "IKBKGbase: Mutation registry for Nemo deficiency|http://structure.bmc.lu.se/idbase/IKBKGbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IKBKG|LRG_70|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_70.xml" 300248 122614 HGNC:5961 "ENST00000594239.6|NM_001099857.5" HGNC:5961 +HGNC:5961 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma protein-coding gene gene with protein product Approved Xq28 Xq28 "IKK-gamma|NEMO|Fip3p|FIP-3|FIP3|ZC2HC9|IKKAP1|IKKG" "NF-kappa-B essential modulator|IkB kinase-associated protein 1|I-kappa-B kinase subunit gamma|IkB kinase subunit gamma|14.7K (adenovirus E3 protein) interacting protein 3" "IP2|IP1" "incontinentia pigmenti|inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma|inhibitor of nuclear factor kappa B kinase subunit gamma" "Zinc fingers C2HC-type|IKK complex" "66|1817" 1998-09-30 2019-02-14 2023-01-20 8517 ENSG00000269335 OTTHUMG00000024234 uc033fbv.2 AF074382 NM_003639 "CCDS83513|CCDS48196|CCDS48197|CCDS14757" Q9Y6K9 "9751060|10087442|11590134|11242109" MGI:1338074 RGD:735223 "IKBKGbase: Mutation registry for Nemo deficiency|http://structure.bmc.lu.se/idbase/IKBKGbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IKBKG|LRG_70|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_70.xml" 300248 122614 HGNC:5961 "ENST00000594239.6|NM_001099857.5" HGNC:5961 HGNC:24455 IKBKGP1 inhibitor of nuclear factor kappa B kinase subunit gamma pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 deltaNEMO Delta NEMO IKBKGP "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene|inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 1" 2007-07-23 2010-04-14 2017-01-13 2017-01-13 246210 ENSG00000275882 OTTHUMG00000188230 NG_001576 11709543 HGNC:24455 -HGNC:13176 IKZF1 IKAROS family zinc finger 1 protein-coding gene gene with protein product Approved 7p12.2 07p12.2 "hIk-1|LyF-1|Hs.54452|IKAROS|PPP1R92" protein phosphatase 1, regulatory subunit 92 ZNFN1A1 "zinc finger protein, subfamily 1A, 1 (Ikaros)|IKAROS family zinc finger 1 (Ikaros)" "Zinc fingers C2H2-type|Protein phosphatase 1 regulatory subunits" "28|694" 1999-08-23 2006-08-25 2015-11-12 2023-03-15 10320 ENSG00000185811 OTTHUMG00000155907 uc003tow.5 U40462 NM_006060 "CCDS78232|CCDS78233|CCDS75596|CCDS69299|CCDS87502|CCDS94102|CCDS59055" Q13422 "1439790|7935426" MGI:1342540 RGD:1562979 LRG_1121|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1121.xml IKZF1 603023 318745 HGNC:13176 "ENST00000331340.8|NM_006060.6" HGNC:13176 -HGNC:13177 IKZF2 IKAROS family zinc finger 2 protein-coding gene gene with protein product Approved 2q34 02q34 Helios ZNFN1A2 "zinc finger protein, subfamily 1A, 2 (Helios)|IKAROS family zinc finger 2 (Helios)" Zinc fingers C2H2-type 28 1999-08-23 2006-08-25 2015-11-12 2023-01-20 22807 ENSG00000030419 OTTHUMG00000133005 uc061sai.1 AF130863 NM_016260 "CCDS46507|CCDS2395" Q9UKS7 "9512513|9560339" MGI:1342541 RGD:1308686 606234 HGNC:13177 "ENST00000434687.6|NM_001387220.1" -HGNC:13178 IKZF3 IKAROS family zinc finger 3 protein-coding gene gene with protein product Approved 17q12-q21.1 17q12-q21.1 Aiolos ZNFN1A3 "zinc finger protein, subfamily 1A, 3 (Aiolos)|IKAROS family zinc finger 3 (Aiolos)" Zinc fingers C2H2-type 28 1999-08-23 2006-08-25 2015-11-12 2023-01-20 22806 ENSG00000161405 OTTHUMG00000133250 uc002hsu.4 AF129512 NM_012481 "CCDS11351|CCDS58542|CCDS58543|CCDS58544|CCDS58545|CCDS58539|CCDS58540|CCDS58541|CCDS74055|CCDS11346|CCDS11348|CCDS11347|CCDS11349|CCDS11350" Q9UKT9 "9155026|10552935" MGI:1342542 RGD:1307024 IKZF3 606221 451586 HGNC:13178 "ENST00000346872.8|NM_012481.5" +HGNC:13176 IKZF1 IKAROS family zinc finger 1 protein-coding gene gene with protein product Approved 7p12.2 07p12.2 "hIk-1|LyF-1|Hs.54452|IKAROS|PPP1R92" protein phosphatase 1, regulatory subunit 92 ZNFN1A1 "zinc finger protein, subfamily 1A, 1 (Ikaros)|IKAROS family zinc finger 1 (Ikaros)" "Zinc fingers C2H2-type|Protein phosphatase 1 regulatory subunits" "28|694" 1999-08-23 2006-08-25 2015-11-12 2023-03-15 10320 ENSG00000185811 OTTHUMG00000155907 uc003tow.5 U40462 NM_006060 "CCDS59055|CCDS87502|CCDS78232|CCDS94102|CCDS78233|CCDS69299|CCDS75596" Q13422 "1439790|7935426" MGI:1342540 RGD:1562979 LRG_1121|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1121.xml IKZF1 603023 318745 HGNC:13176 "ENST00000331340.8|NM_006060.6" HGNC:13176 +HGNC:13177 IKZF2 IKAROS family zinc finger 2 protein-coding gene gene with protein product Approved 2q34 02q34 Helios ZNFN1A2 "zinc finger protein, subfamily 1A, 2 (Helios)|IKAROS family zinc finger 2 (Helios)" Zinc fingers C2H2-type 28 1999-08-23 2006-08-25 2015-11-12 2023-01-20 22807 ENSG00000030419 OTTHUMG00000133005 uc061sai.1 AF130863 NM_016260 "CCDS2395|CCDS46507" Q9UKS7 "9512513|9560339" MGI:1342541 RGD:1308686 606234 HGNC:13177 "ENST00000434687.6|NM_001387220.1" +HGNC:13178 IKZF3 IKAROS family zinc finger 3 protein-coding gene gene with protein product Approved 17q12-q21.1 17q12-q21.1 Aiolos ZNFN1A3 "zinc finger protein, subfamily 1A, 3 (Aiolos)|IKAROS family zinc finger 3 (Aiolos)" Zinc fingers C2H2-type 28 1999-08-23 2006-08-25 2015-11-12 2023-01-20 22806 ENSG00000161405 OTTHUMG00000133250 uc002hsu.4 AF129512 NM_012481 "CCDS58539|CCDS58540|CCDS11350|CCDS11349|CCDS58545|CCDS74055|CCDS58541|CCDS11351|CCDS11348|CCDS58543|CCDS58544|CCDS11347|CCDS11346|CCDS58542" Q9UKT9 "9155026|10552935" MGI:1342542 RGD:1307024 IKZF3 606221 451586 HGNC:13178 "ENST00000346872.8|NM_012481.5" HGNC:13179 IKZF4 IKAROS family zinc finger 4 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 Eos ZNFN1A4 "zinc finger protein, subfamily 1A, 4 (Eos)|IKAROS family zinc finger 4 (Eos)" Zinc fingers C2H2-type 28 1999-08-23 2006-08-25 2015-11-12 2023-01-20 64375 ENSG00000123411 OTTHUMG00000170132 uc058pgc.1 AF230809 NM_022465 "CCDS86309|CCDS44917" Q9H2S9 10978333 MGI:1343139 RGD:2319157 606239 HGNC:13179 "ENST00000547167.6|NM_022465.4" HGNC:14283 IKZF5 IKAROS family zinc finger 5 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "Pegasus|FLJ22973" ZNFN1A5 "zinc finger protein, subfamily 1A, 5|zinc finger protein, subfamily 1A, 5 (Pegasus)|IKAROS family zinc finger 5 (Pegasus)" Zinc fingers C2H2-type 28 2004-02-20 2006-08-25 2015-11-12 2023-01-20 64376 ENSG00000095574 OTTHUMG00000019192 uc001lha.4 AF230808 NM_022466 CCDS41574 Q9H5V7 10978333 MGI:1914393 RGD:1310965 LRG_1429|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1429.xml 606238 HGNC:14283 "ENST00000368886.10|NM_001372123.1" HGNC:14283 HGNC:5991 IL1A interleukin 1 alpha protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "IL1F1|IL-1A|IL1-ALPHA" "preinterleukin 1 alpha|hematopoietin-1|pro-interleukin-1-alpha" IL1 Interleukins 601 2001-06-22 2015-11-12 2023-01-20 3552 ENSG00000115008 OTTHUMG00000131315 uc002tig.4 M28983 NM_000575 CCDS2101 P01583 "8188271|2989698" MGI:96542 RGD:2890 147760 ligandId:4973 HGNC:5991 "ENST00000263339.4|NM_000575.5" HGNC:5992 IL1B interleukin 1 beta protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "IL1F2|IL-1B|IL1-BETA" Interleukins 601 1989-03-31 2015-11-12 2023-01-20 3553 ENSG00000125538 OTTHUMG00000131344 uc002tii.2 M15330 NM_000576 CCDS2102 P01584 "2954882|2989698" MGI:96543 RGD:2891 147720 ligandId:4974 HGNC:5992 "ENST00000263341.7|NM_000576.3" HGNC:5992 HGNC:15552 IL1F10 interleukin 1 family member 10 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FKSG75|IL-1HY2|IL-1F10|IL1-theta|MGC11983|MGC119832|MGC119833" "FIL1- theta|interleukin-1 receptor antagonist FKSG75" interleukin 1 family, member 10 (theta) Interleukins 601 2002-08-02 2017-08-07 2023-01-20 84639 ENSG00000136697 OTTHUMG00000131339 uc002tiu.4 AY026753 NM_173161 CCDS2112 Q8WWZ1 "11747621|11991723|11991722" MGI:2652548 RGD:1305635 615296 HGNC:15552 "ENST00000341010.6|NM_173161.3" -HGNC:5993 IL1R1 interleukin 1 receptor type 1 protein-coding gene gene with protein product Approved 2q11.2-q12.1 02q11.2-q12.1 "D2S1473|CD121A" interleukin-1 receptor, type I "IL1R|IL1RA" interleukin 1 receptor, type I "CD molecules|I-set domain containing|Interleukin receptors|TIR domain containing" "471|593|602|1296" 1990-06-27 2016-03-01 2023-01-20 3554 ENSG00000115594 OTTHUMG00000130783 uc061mlt.1 M27492 NM_000877 "CCDS2055|CCDS74547" P14778 "1833184|10191101" MGI:96545 RGD:2892 147810 objectId:1734 CD121A HGNC:5993 "ENST00000410023.6|NM_000877.4" +HGNC:5993 IL1R1 interleukin 1 receptor type 1 protein-coding gene gene with protein product Approved 2q11.2-q12.1 02q11.2-q12.1 "D2S1473|CD121A" interleukin-1 receptor, type I "IL1R|IL1RA" interleukin 1 receptor, type I "CD molecules|I-set domain containing|Interleukin receptors|TIR domain containing" "471|593|602|1296" 1990-06-27 2016-03-01 2023-01-20 3554 ENSG00000115594 OTTHUMG00000130783 uc061mlt.1 M27492 NM_000877 "CCDS74547|CCDS2055" P14778 "1833184|10191101" MGI:96545 RGD:2892 147810 objectId:1734 CD121A HGNC:5993 "ENST00000410023.6|NM_000877.4" HGNC:53898 IL1R1-AS1 IL1R1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 AC007271.3 Antisense RNAs 1987 2018-05-16 2018-05-16 112577460 ENSG00000226925 NR_174960 29763905 -HGNC:5994 IL1R2 interleukin 1 receptor type 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 CD121b IL1RB interleukin 1 receptor, type II "CD molecules|Immunoglobulin like domain containing|Interleukin receptors" "471|594|602" 1992-11-30 2016-03-01 2023-01-20 7850 ENSG00000115590 OTTHUMG00000130695 uc002tbm.4 X59770 NM_004633 "CCDS58719|CCDS2054" P27930 "10191101|1833184" MGI:96546 RGD:621147 147811 objectId:2319 CD121b HGNC:5994 "ENST00000332549.8|NM_004633.4" -HGNC:5995 IL1RAP interleukin 1 receptor accessory protein protein-coding gene gene with protein product Approved 3q28 03q28 "IL-1RAcP|IL1R3|C3orf13" "Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing" "594|602|1296" 1997-10-09 2023-01-20 3556 ENSG00000196083 OTTHUMG00000156211 uc003fso.2 AB006537 NM_001167929 "CCDS3298|CCDS54696|CCDS46982" Q9NPH3 "9479509|9065432" MGI:104975 RGD:2893 602626 objectId:1897 HGNC:5995 "ENST00000447382.6|NM_002182.4" +HGNC:5994 IL1R2 interleukin 1 receptor type 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 CD121b IL1RB interleukin 1 receptor, type II "CD molecules|Immunoglobulin like domain containing|Interleukin receptors" "471|594|602" 1992-11-30 2016-03-01 2023-01-20 7850 ENSG00000115590 OTTHUMG00000130695 uc002tbm.4 X59770 NM_004633 "CCDS2054|CCDS58719" P27930 "10191101|1833184" MGI:96546 RGD:621147 147811 objectId:2319 CD121b HGNC:5994 "ENST00000332549.8|NM_004633.4" +HGNC:5995 IL1RAP interleukin 1 receptor accessory protein protein-coding gene gene with protein product Approved 3q28 03q28 "IL-1RAcP|IL1R3|C3orf13" "Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing" "594|602|1296" 1997-10-09 2023-01-20 3556 ENSG00000196083 OTTHUMG00000156211 uc003fso.2 AB006537 NM_001167929 "CCDS3298|CCDS46982|CCDS54696" Q9NPH3 "9479509|9065432" MGI:104975 RGD:2893 602626 objectId:1897 HGNC:5995 "ENST00000447382.6|NM_002182.4" HGNC:5996 IL1RAPL1 interleukin 1 receptor accessory protein like 1 protein-coding gene gene with protein product Approved Xp21.3-p21.2 Xp21.3-p21.2 "OPHN4|TIGIRR-2|IL1R8" "IL1RAPL|MRX34|MRX21|MRX10" "mental retardation, X-linked 34|mental retardation, X-linked 21|mental retardation, X-linked 10" "I-set domain containing|Interleukin receptors|TIR domain containing|MicroRNA protein coding host genes" "593|602|1296|1691" 1999-09-07 2016-01-12 2023-01-20 11141 ENSG00000169306 OTTHUMG00000021317 uc004dby.3 AJ243874 NM_014271 CCDS14218 Q9NZN1 "10471494|10757639" MGI:2687319 RGD:727891 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL1RAPL1 300206 159931 HGNC:5996 "ENST00000378993.6|NM_014271.4" HGNC:5996 HGNC:5997 IL1RAPL2 interleukin 1 receptor accessory protein like 2 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "IL-1R9|TIGIRR-1|IL1RAPL-2|IL1R9" "Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing" "594|602|1296" 1999-11-19 2016-01-12 2023-01-20 26280 ENSG00000189108 OTTHUMG00000022141 uc004elz.1 AF181285 NM_017416 CCDS14517 Q9NP60 10757639 MGI:1913106 RGD:1561761 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL1RAPL2 300277 HGNC:5997 "ENST00000372582.6|NM_017416.2" -HGNC:5998 IL1RL1 interleukin 1 receptor like 1 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "ST2|FIT-1|ST2L|ST2V|DER4|T1|IL33R" homolog of mouse growth stimulation-expressed "I-set domain containing|Interleukin receptors|TIR domain containing" "593|602|1296" 1998-12-17 2016-01-12 2023-03-15 9173 ENSG00000115602 OTTHUMG00000130782 uc002tbu.1 D12764 NM_016232 "CCDS2057|CCDS2058|CCDS74548" Q01638 "1482686|10191101|16286016" MGI:98427 RGD:2894 601203 objectId:1735 HGNC:5998 "ENST00000233954.6|NM_016232.5" +HGNC:5998 IL1RL1 interleukin 1 receptor like 1 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "ST2|FIT-1|ST2L|ST2V|DER4|T1|IL33R" homolog of mouse growth stimulation-expressed "I-set domain containing|Interleukin receptors|TIR domain containing" "593|602|1296" 1998-12-17 2016-01-12 2023-03-15 9173 ENSG00000115602 OTTHUMG00000130782 uc002tbu.1 D12764 NM_016232 "CCDS74548|CCDS2057|CCDS2058" Q01638 "1482686|10191101|16286016" MGI:98427 RGD:2894 601203 objectId:1735 HGNC:5998 "ENST00000233954.6|NM_016232.5" HGNC:5999 IL1RL2 interleukin 1 receptor like 2 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "IL1R-rp2|IL1RRP2|IL-36R" "Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing" "594|602|1296" 1998-12-17 2016-01-12 2023-01-20 8808 ENSG00000115598 OTTHUMG00000130776 uc002tbs.4 U49065 NM_003854 "CCDS2056|CCDS86867" Q9HB29 "8898719|10191101|11466363|21860022" MGI:1913107 RGD:621782 604512 objectId:1736 HGNC:5999 "ENST00000264257.7|NM_003854.4" -HGNC:6000 IL1RN interleukin 1 receptor antagonist protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "IL1RA|ICIL-1RA|IL1F3|IRAP|IL-1RN|MGC10430" "interleukin-1 receptor antagonist protein|intracellular interleukin-1 receptor antagonist" Interleukins 601 1990-11-20 2023-01-20 3557 ENSG00000136689 OTTHUMG00000131341 uc002tjb.4 M55646 NM_173841 "CCDS2113|CCDS46396|CCDS2114|CCDS2115" P18510 "1386337|8432529" MGI:96547 RGD:621159 LRG_188|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_188.xml 147679 212902 ligandId:5878 HGNC:6000 "ENST00000409930.4|NM_173842.3" HGNC:6000 +HGNC:6000 IL1RN interleukin 1 receptor antagonist protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "IL1RA|ICIL-1RA|IL1F3|IRAP|IL-1RN|MGC10430" "interleukin-1 receptor antagonist protein|intracellular interleukin-1 receptor antagonist" Interleukins 601 1990-11-20 2023-01-20 3557 ENSG00000136689 OTTHUMG00000131341 uc002tjb.4 M55646 NM_173841 "CCDS2115|CCDS46396|CCDS2114|CCDS2113" P18510 "1386337|8432529" MGI:96547 RGD:621159 LRG_188|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_188.xml 147679 212902 ligandId:5878 HGNC:6000 "ENST00000409930.4|NM_173842.3" HGNC:6000 HGNC:6001 IL2 interleukin 2 protein-coding gene gene with protein product Approved 4q27 04q27 "IL-2|TCGF" T cell growth factor Interleukins 601 1986-01-01 2023-01-20 3558 ENSG00000109471 OTTHUMG00000133075 uc003ier.4 U25676 NM_000586 CCDS3726 P60568 3260003 MGI:96548 RGD:620047 IL2 147680 ligandId:4985 HGNC:6001 "ENST00000226730.5|NM_000586.4" -HGNC:6008 IL2RA interleukin 2 receptor subunit alpha protein-coding gene gene with protein product Approved 10p15.1 10p15.1 CD25 "IL2R|IDDM10" "insulin-dependent diabetes mellitus 10|interleukin 2 receptor, alpha" "CD molecules|Interleukin receptors|Sushi domain containing" "471|602|1179" 1990-01-22 2015-12-11 2023-01-20 3559 ENSG00000134460 OTTHUMG00000017616 uc001iiz.3 X01057 NM_000417 "CCDS76281|CCDS91210|CCDS7076" P01589 "3925551|17676041" MGI:96549 RGD:2895 "IL2RAbase: Mutation registry for Interleuken 2 receptor α deficiency|http://structure.bmc.lu.se/idbase/IL2RAbase/|LRG_73|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_73.xml" 147730 160265 objectId:1695 CD25 HGNC:6008 "ENST00000379959.8|NM_000417.3" HGNC:6008 +HGNC:6008 IL2RA interleukin 2 receptor subunit alpha protein-coding gene gene with protein product Approved 10p15.1 10p15.1 CD25 "IL2R|IDDM10" "insulin-dependent diabetes mellitus 10|interleukin 2 receptor, alpha" "CD molecules|Interleukin receptors|Sushi domain containing" "471|602|1179" 1990-01-22 2015-12-11 2023-01-20 3559 ENSG00000134460 OTTHUMG00000017616 uc001iiz.3 X01057 NM_000417 "CCDS91210|CCDS76281|CCDS7076" P01589 "3925551|17676041" MGI:96549 RGD:2895 "IL2RAbase: Mutation registry for Interleuken 2 receptor α deficiency|http://structure.bmc.lu.se/idbase/IL2RAbase/|LRG_73|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_73.xml" 147730 160265 objectId:1695 CD25 HGNC:6008 "ENST00000379959.8|NM_000417.3" HGNC:6008 HGNC:6009 IL2RB interleukin 2 receptor subunit beta protein-coding gene gene with protein product Approved 22q12.3 22q12.3 CD122 IL15RB "interleukin 15 receptor, beta|interleukin 2 receptor, beta" "CD molecules|Interleukin receptors" "471|602" 1990-01-22 2015-12-11 2023-01-20 3560 ENSG00000100385 OTTHUMG00000150534 uc003aqv.2 M26062 NM_000878 CCDS13942 P14784 MGI:96550 RGD:2896 146710 355507 objectId:1696 CD122 HGNC:6009 "ENST00000216223.10|NM_000878.5" HGNC:6009 HGNC:6010 IL2RG interleukin 2 receptor subunit gamma protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 CD132 "SCIDX1|IMD4|CIDX" "severe combined immunodeficiency|combined immunodeficiency, X-linked|interleukin 2 receptor, gamma" "CD molecules|Fibronectin type III domain containing|Interleukin receptors" "471|555|602" 1992-11-30 2015-12-11 2023-01-20 3561 ENSG00000147168 OTTHUMG00000021787 uc004dyw.4 D11086 NM_000206 CCDS14406 P31785 "1631559|7883965" MGI:96551 RGD:621466 "X-Linked Severe Combined Immuno deficiency SCID|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=IL2RG|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL2RG|LRG_150|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_150.xml" 308380 122641 objectId:2303 CD132 HGNC:6010 "ENST00000374202.7|NM_000206.3" HGNC:6010 HGNC:6011 IL3 interleukin 3 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "IL-3|MULTI-CSF|MCGF|MGC79398|MGC79399" "multilineage-colony-stimulating factor|hematopoietic growth factor|P-cell stimulating factor|mast-cell growth factor|colony-stimulating factor, multiple" interleukin 3 (colony-stimulating factor, multiple) Interleukins 601 2001-06-22 2014-04-04 2023-01-20 3562 ENSG00000164399 OTTHUMG00000059640 uc003kwe.2 M14743 NM_000588 CCDS4149 P08700 3489530 MGI:96552 RGD:2897 147740 ligandId:4994 HGNC:6011 "ENST00000296870.3|NM_000588.4" HGNC:6012 IL3RA interleukin 3 receptor subunit alpha protein-coding gene gene with protein product Approved Xp22.3 and Yp13.3 Xp22.3 and Yp13.3 CD123 interleukin 3 receptor, alpha (low affinity) "CD molecules|Interleukin receptors|Pseudoautosomal region 1" "471|602|715" 1992-10-28 2015-12-11 2023-01-20 3563 ENSG00000185291 OTTHUMG00000021059 uc004fpf.4 M74782 NM_001267713 "CCDS14113|CCDS59158" P26951 1833064 MGI:96553 RGD:628728 "308385|430000" objectId:1705 CD123 HGNC:6012 "ENST00000331035.10|NM_002183.4" -HGNC:6014 IL4 interleukin 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "BSF1|IL-4|BCGF1|BCGF-1|MGC79402" "B_cell stimulatory factor 1|lymphocyte stimulatory factor 1|B cell growth factor 1" Interleukins 601 1988-08-10 2023-01-20 3565 ENSG00000113520 OTTHUMG00000059724 uc003kxk.3 M23442 NM_000589 "CCDS4159|CCDS87322|CCDS4158" P05112 3016727 MGI:96556 RGD:2898 147780 ligandId:4996 HGNC:6014 "ENST00000231449.7|NM_000589.4" +HGNC:6014 IL4 interleukin 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "BSF1|IL-4|BCGF1|BCGF-1|MGC79402" "B_cell stimulatory factor 1|lymphocyte stimulatory factor 1|B cell growth factor 1" Interleukins 601 1988-08-10 2023-01-20 3565 ENSG00000113520 OTTHUMG00000059724 uc003kxk.3 M23442 NM_000589 "CCDS4159|CCDS4158|CCDS87322" P05112 3016727 MGI:96556 RGD:2898 147780 ligandId:4996 HGNC:6014 "ENST00000231449.7|NM_000589.4" HGNC:19094 IL4I1 interleukin 4 induced 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FIG1 L-amino-acid oxidase 2002-08-20 2023-03-01 259307 ENSG00000104951 OTTHUMG00000183377 uc010eno.4 AF293462 NM_001258017 "CCDS12786|CCDS12787" Q96RQ9 "12031486|20878154|29206151|32818467" MGI:109552 RGD:1304831 609742 "1.4.3.2|1.4.3.25" HGNC:19094 "ENST00000391826.7|NM_152899.2" HGNC:6015 IL4R interleukin 4 receptor protein-coding gene gene with protein product Approved 16p12.1 16p12.1 CD124 interleukin 13 receptor "CD molecules|Interleukin receptors" "471|602" 1990-07-06 2023-03-15 3566 ENSG00000077238 OTTHUMG00000097015 uc002don.5 X52425 NM_000418 "CCDS10629|CCDS58441" P24394 1679753 MGI:105367 RGD:2899 147781 objectId:1697 CD124 HGNC:6015 "ENST00000395762.7|NM_000418.4" HGNC:6015 HGNC:6016 IL5 interleukin 5 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "IL-5|EDF|TRF" "interleukin-5|T-cell replacing factor|B cell differentiation factor I|eosinophil differentiation factor|colony-stimulating factor, eosinophil" interleukin 5 (colony-stimulating factor, eosinophil) Interleukins 601 2001-06-22 2014-04-04 2023-01-20 3567 ENSG00000113525 OTTHUMG00000059496 uc003kxe.1 X04688 NM_000879 CCDS4156 P05113 3498940 MGI:96557 RGD:2900 147850 ligandId:4997 HGNC:6016 "ENST00000231454.6|NM_000879.3" -HGNC:6017 IL5RA interleukin 5 receptor subunit alpha protein-coding gene gene with protein product Approved 3p26.2 03p26.2 "CDw125|CD125" IL5R interleukin 5 receptor, alpha "CD molecules|Interleukin receptors" "471|602" 1992-06-18 2015-12-11 2023-01-20 3568 ENSG00000091181 OTTHUMG00000090245 uc010hbs.4 M96652 NM_000564 "CCDS46739|CCDS58813|CCDS2559|CCDS2560" Q01344 1732409 MGI:96558 RGD:70938 147851 objectId:1706 CDw125 HGNC:6017 "ENST00000446632.7|NM_175726.4" -HGNC:6018 IL6 interleukin 6 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "IL-6|BSF2|HGF|HSF" interferon, beta 2 IFNB2 interleukin 6 (interferon, beta 2) "Interferons|Interleukins|Interleukin 6 type cytokine family" "598|601|1264" 1986-01-01 2014-04-04 2023-01-20 3569 ENSG00000136244 OTTHUMG00000023178 uc064bxs.1 M18403 NM_000600 "CCDS83166|CCDS5375|CCDS94066" P05231 3294161 MGI:96559 RGD:2901 147620 138462 ligandId:4998 HGNC:6018 "ENST00000258743.10|NM_000600.5" +HGNC:6017 IL5RA interleukin 5 receptor subunit alpha protein-coding gene gene with protein product Approved 3p26.2 03p26.2 "CDw125|CD125" IL5R interleukin 5 receptor, alpha "CD molecules|Interleukin receptors" "471|602" 1992-06-18 2015-12-11 2023-01-20 3568 ENSG00000091181 OTTHUMG00000090245 uc010hbs.4 M96652 NM_000564 "CCDS2560|CCDS46739|CCDS2559|CCDS58813" Q01344 1732409 MGI:96558 RGD:70938 147851 objectId:1706 CDw125 HGNC:6017 "ENST00000446632.7|NM_175726.4" +HGNC:6018 IL6 interleukin 6 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "IL-6|BSF2|HGF|HSF" interferon, beta 2 IFNB2 interleukin 6 (interferon, beta 2) "Interferons|Interleukins|Interleukin 6 type cytokine family" "598|601|1264" 1986-01-01 2014-04-04 2023-01-20 3569 ENSG00000136244 OTTHUMG00000023178 uc064bxs.1 M18403 NM_000600 "CCDS83166|CCDS94066|CCDS5375" P05231 3294161 MGI:96559 RGD:2901 147620 138462 ligandId:4998 HGNC:6018 "ENST00000258743.10|NM_000600.5" HGNC:40301 IL6-AS1 IL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p15.3 07p15.3 Antisense RNAs 1987 2019-08-14 2019-08-14 541472 ENSG00000179428 OTTHUMG00000152547 NR_131935 HGNC:40301 -HGNC:6019 IL6R interleukin 6 receptor protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "CD126|IL-6R|IL-1Ra|IL6RA|gp80" "membrane glycoprotein 80|interleukin 6 receptor subunit alpha" "CD molecules|Immunoglobulin like domain containing|Interleukin receptors" "471|594|602" 2001-06-22 2023-01-20 3570 ENSG00000160712 OTTHUMG00000036073 uc001fez.2 X12830 NM_000565 "CCDS1067|CCDS72927|CCDS1068" P08887 "8428753|12633863" MGI:105304 RGD:2902 147880 objectId:1708 CD126 HGNC:6019 "ENST00000368485.8|NM_000565.4" +HGNC:6019 IL6R interleukin 6 receptor protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "CD126|IL-6R|IL-1Ra|IL6RA|gp80" "membrane glycoprotein 80|interleukin 6 receptor subunit alpha" "CD molecules|Immunoglobulin like domain containing|Interleukin receptors" "471|594|602" 2001-06-22 2023-01-20 3570 ENSG00000160712 OTTHUMG00000036073 uc001fez.2 X12830 NM_000565 "CCDS72927|CCDS1068|CCDS1067" P08887 "8428753|12633863" MGI:105304 RGD:2902 147880 objectId:1708 CD126 HGNC:6019 "ENST00000368485.8|NM_000565.4" HGNC:53716 IL6R-AS1 IL6R antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 RP11-350G8.5 Antisense RNAs 1987 2017-08-30 2017-08-30 101928101 ENSG00000228013 OTTHUMG00000036070 NR_147855 28839111 HGNC:53716 HGNC:6020 IL6RP1 interleukin 6 receptor pseudogene 1 pseudogene pseudogene Approved 9q22.2 09q22.2 IL6RL1 interleukin 6 receptor-like 1 1991-08-18 2010-10-19 2010-10-19 2014-11-19 157916 ENSG00000234910 OTTHUMG00000020190 NG_002785 1889804 PGOHUM00000236254 HGNC:6020 -HGNC:6021 IL6ST interleukin 6 cytokine family signal transducer protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "GP130|CD130|sGP130|IL-6RB" "gp130, oncostatin M receptor|Interleukin-6 receptor subunit beta|membrane glycoprotein 130" "interleukin 6 signal transducer (gp130, oncostatin M receptor)|interleukin 6 signal transducer" "CD molecules|Fibronectin type III domain containing|Interleukin receptors" "471|555|602" 1991-08-12 2021-02-04 2023-01-20 3572 ENSG00000134352 OTTHUMG00000097043 uc003jqq.4 M57230 NM_002184 "CCDS47209|CCDS93711|CCDS54856|CCDS3971|CCDS93710|CCDS93712" P40189 2261637 MGI:96560 RGD:2903 IL6ST 600694 objectId:2317 CD130 HGNC:6021 "ENST00000381298.7|NM_002184.4" HGNC:6021 +HGNC:6021 IL6ST interleukin 6 cytokine family signal transducer protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "GP130|CD130|sGP130|IL-6RB" "gp130, oncostatin M receptor|Interleukin-6 receptor subunit beta|membrane glycoprotein 130" "interleukin 6 signal transducer (gp130, oncostatin M receptor)|interleukin 6 signal transducer" "CD molecules|Fibronectin type III domain containing|Interleukin receptors" "471|555|602" 1991-08-12 2021-02-04 2023-01-20 3572 ENSG00000134352 OTTHUMG00000097043 uc003jqq.4 M57230 NM_002184 "CCDS47209|CCDS93710|CCDS3971|CCDS93712|CCDS54856|CCDS93711" P40189 2261637 MGI:96560 RGD:2903 IL6ST 600694 objectId:2317 CD130 HGNC:6021 "ENST00000381298.7|NM_002184.4" HGNC:6021 HGNC:55804 IL6ST-DT IL6ST divergent transcript non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Divergent transcripts 1990 2021-07-29 2021-07-29 441072 ENSG00000227908 NR_102755 HGNC:6022 IL6STP1 interleukin 6 signal transducer pseudogene 1 pseudogene pseudogene Approved 17p12 17p12 IL6STP "interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene|interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene 1" 1995-05-16 2010-04-14 2016-06-27 2016-10-05 3573 ENSG00000227018 OTTHUMG00000059144 NG_002748 7736792 PGOHUM00000237232 HGNC:6022 -HGNC:6023 IL7 interleukin 7 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 IL-7 Interleukins 601 1989-10-12 2023-01-20 3574 ENSG00000104432 OTTHUMG00000164620 uc022awh.2 J04156 NM_000880 "CCDS75755|CCDS6224|CCDS75756|CCDS56541" P13232 MGI:96561 RGD:2904 146660 ligandId:4999 HGNC:6023 "ENST00000263851.9|NM_000880.4" HGNC:6023 +HGNC:6023 IL7 interleukin 7 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 IL-7 Interleukins 601 1989-10-12 2023-01-20 3574 ENSG00000104432 OTTHUMG00000164620 uc022awh.2 J04156 NM_000880 "CCDS75756|CCDS56541|CCDS6224|CCDS75755" P13232 MGI:96561 RGD:2904 146660 ligandId:4999 HGNC:6023 "ENST00000263851.9|NM_000880.4" HGNC:6023 HGNC:6024 IL7R interleukin 7 receptor protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "CD127|IL7RA|lnc-IL7R|IL-7Ralpha|IL7Ralpha|sIL-7R|CDw127" "soluble interleukin-7 receptor|Interleukin-7 receptor subunit alpha" "CD molecules|Fibronectin type III domain containing|Interleukin receptors" "471|555|602" 1991-08-07 2023-02-13 3575 ENSG00000168685 OTTHUMG00000090791 uc003jjs.5 M29696 NM_001410734 CCDS3911 P16871 "2317865|31745336" MGI:96562 RGD:1309776 "IL7Rbase: Mutation registry for Interleukin-7 receptor α deficiency|http://structure.bmc.lu.se/idbase/IL7Rbase/|LRG_74|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_74.xml" IL7R 146661 159734 objectId:1698 CD127 HGNC:6024 "ENST00000303115.8|NM_002185.5" HGNC:6024 HGNC:6029 IL9 interleukin 9 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "IL-9|HP40|P40" "p40 T-cell and mast cell growth factor|T-cell growth factor p40|p40 cytokine|homolog of mouse T cell and mast cell growth factor 40" Interleukins 601 1990-06-11 2023-01-20 3578 ENSG00000145839 OTTHUMG00000129147 uc003lbb.1 S63356 NM_000590 CCDS4189 P15248 8379467 MGI:96563 RGD:620049 146931 ligandId:5000 HGNC:6029 "ENST00000274520.2|NM_000590.2" HGNC:6030 IL9R interleukin 9 receptor protein-coding gene gene with protein product Approved Xq28 and Yq12 Xq28 and Yq12 CD129 "CD molecules|Interleukin receptors|Pseudoautosomal region 2" "471|602|716" 1992-10-06 2023-01-20 3581 ENSG00000124334 OTTHUMG00000022720 uc004fxn.2 M84747 NM_002186 "CCDS59180|CCDS14771" Q01113 "1376929|8666384" MGI:96564 RGD:2907 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL9R 300007 objectId:1699 CD129 HGNC:6030 "ENST00000244174.11|NM_002186.3" @@ -13172,93 +13173,93 @@ HGNC:5962 IL10 interleukin 10 protein-coding gene gene with protein product Appr HGNC:5964 IL10RA interleukin 10 receptor subunit alpha protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "HIL-10R|CDW210A|CD210a|CD210" IL10R interleukin 10 receptor, alpha "CD molecules|Interleukin receptors" "471|602" 1994-05-12 2015-12-11 2023-01-20 3587 ENSG00000110324 OTTHUMG00000166523 uc001prv.5 U00672 NM_001558 CCDS8388 Q13651 8120391 MGI:96538 RGD:620138 LRG_151|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_151.xml 146933 244737 objectId:1727 CD210 HGNC:5964 "ENST00000227752.8|NM_001558.4" HGNC:5964 HGNC:5965 IL10RB interleukin 10 receptor subunit beta protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "CRF2-4|CDW210B|IL-10R2" "CRFB4|D21S58|D21S66" interleukin 10 receptor, beta "CD molecules|Interleukin receptors" "471|602" 1993-04-06 2015-12-11 2023-01-20 3588 ENSG00000243646 OTTHUMG00000065128 uc002yrk.3 U08988 NM_000628 CCDS13623 Q08334 "8314576|9312047" MGI:109380 RGD:1560373 LRG_152|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_152.xml 123889 244742 objectId:1728 CDW210B HGNC:5965 "ENST00000290200.7|NM_000628.5" HGNC:5965 HGNC:44303 IL10RB-DT IL10RB divergent transcript non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 IFNAR2-AS1 IFNAR2 antisense RNA 1 IL10RB-AS1 IL10RB antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-17 2018-03-23 2018-03-23 2018-03-23 100288432 ENSG00000223799 OTTHUMG00000065125 NR_038974 IL10RB-AS1 HGNC:44303 -HGNC:5966 IL11 interleukin 11 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "IL-11|AGIF" "adipogenesis inhibitory factor|oprelvekin" "Interleukins|Interleukin 6 type cytokine family" "601|1264" 1991-08-06 2023-01-20 3589 ENSG00000095752 OTTHUMG00000180789 uc002qks.3 X58377 NM_000641 "CCDS59423|CCDS12923" P20809 1386338 MGI:107613 RGD:621475 147681 ligandId:4976 HGNC:5966 "ENST00000264563.7|NM_000641.4" HGNC:5966 +HGNC:5966 IL11 interleukin 11 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "IL-11|AGIF" "adipogenesis inhibitory factor|oprelvekin" "Interleukins|Interleukin 6 type cytokine family" "601|1264" 1991-08-06 2023-01-20 3589 ENSG00000095752 OTTHUMG00000180789 uc002qks.3 X58377 NM_000641 "CCDS12923|CCDS59423" P20809 1386338 MGI:107613 RGD:621475 147681 ligandId:4976 HGNC:5966 "ENST00000264563.7|NM_000641.4" HGNC:5966 HGNC:5967 IL11RA interleukin 11 receptor subunit alpha protein-coding gene gene with protein product Approved 9p13.3 09p13.3 interleukin 11 receptor, alpha "Immunoglobulin like domain containing|Interleukin receptors" "594|602" 1995-08-10 2015-12-11 2023-03-15 3590 ENSG00000137070 OTTHUMG00000019837 uc003zvi.5 Z38102 NM_001142784 CCDS6567 Q14626 "7670098|8808281" "MGI:107426|MGI:109123|MGI:3801997" RGD:621332 600939 284155 objectId:1709 HGNC:5967 "ENST00000441545.7|NM_001142784.3" HGNC:5967 -HGNC:5969 IL12A interleukin 12A protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "CLMF|IL-12A|p35|NFSK" "natural killer cell stimulatory factor 1, 35 kD subunit|cytotoxic lymphocyte maturation factor 1, p35|interleukin 12, p35|IL-12, subunit p35|NF cell stimulatory factor chain 1|interleukin-12 alpha chain|IL35 subunit" NKSF1 interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) Interleukins 601 1991-08-08 2014-04-04 2023-03-15 3592 ENSG00000168811 OTTHUMG00000158942 uc003fcx.4 M65271 NM_000882 "CCDS93420|CCDS3187" P29459 1673147 MGI:96539 RGD:620562 161560 239865 ligandId:5001 HGNC:5969 +HGNC:5969 IL12A interleukin 12A protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "CLMF|IL-12A|p35|NFSK" "natural killer cell stimulatory factor 1, 35 kD subunit|cytotoxic lymphocyte maturation factor 1, p35|interleukin 12, p35|IL-12, subunit p35|NF cell stimulatory factor chain 1|interleukin-12 alpha chain|IL35 subunit" NKSF1 interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) Interleukins 601 1991-08-08 2014-04-04 2023-03-15 3592 ENSG00000168811 OTTHUMG00000158942 uc003fcx.4 M65271 NM_000882 "CCDS3187|CCDS93420" P29459 1673147 MGI:96539 RGD:620562 161560 239865 ligandId:5001 HGNC:5969 HGNC:49094 IL12A-AS1 IL12A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.33 03q25.33 ILAS1-AS1 Antisense RNAs 1987 2013-09-02 2019-03-06 101928376 ENSG00000244040 OTTHUMG00000158951 AK097161 NR_108088 449090 IL12A-AS1 HGNC:49094 HGNC:5970 IL12B interleukin 12B protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "CLMF|IL-12B|NKSF|CLMF2" "natural killer cell stimulatory factor-2|cytotoxic lymphocyte maturation factor 2, p40|interleukin 12, p40|natural killer cell stimulatory factor, 40 kD subunit|interleukin-12 beta chain|IL12, subunit p40" NKSF2 interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) "Immunoglobulin like domain containing|Interleukins" "594|601" 1991-08-08 2014-04-04 2023-01-20 3593 ENSG00000113302 OTTHUMG00000130307 uc003lxr.2 M65290 NM_002187 CCDS4346 P29460 1673147 MGI:96540 RGD:628704 "IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency|http://structure.bmc.lu.se/idbase/IL12Bbase/|LRG_71|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_71.xml" 161561 122629 ligandId:5002 HGNC:5970 "ENST00000231228.3|NM_002187.3" HGNC:5970 HGNC:5971 IL12RB1 interleukin 12 receptor subunit beta 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 CD212 IL12RB interleukin 12 receptor, beta 1 "CD molecules|Fibronectin type III domain containing|Interleukin receptors" "471|555|602" 1995-09-14 2015-12-11 2023-01-20 3594 ENSG00000096996 OTTHUMG00000183417 uc002nhx.2 U03187 NM_001290023 "CCDS32957|CCDS54232" P42701 9284929 MGI:104579 RGD:620025 "IL12RB1base: Mutation registry for Interleukin-12 receptor ß1 deficiency|http://structure.bmc.lu.se/idbase/IL12RB1base/|LRG_72|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_72.xml" 601604 122634 objectId:1715 CD212 HGNC:5971 "ENST00000593993.7|NM_005535.3" HGNC:5971 -HGNC:5972 IL12RB2 interleukin 12 receptor subunit beta 2 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 interleukin 12 receptor, beta 2 "Fibronectin type III domain containing|Interleukin receptors" "555|602" 1997-02-10 2015-12-11 2023-01-20 3595 ENSG00000081985 OTTHUMG00000009094 uc001ddu.3 U64198 NM_001559 "CCDS58007|CCDS638|CCDS58006|CCDS72805" Q99665 "9284929|8943050" MGI:1270861 RGD:620026 LRG_707|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_707.xml 601642 objectId:1716 HGNC:5972 "ENST00000674203.2|NM_001374259.2" +HGNC:5972 IL12RB2 interleukin 12 receptor subunit beta 2 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 interleukin 12 receptor, beta 2 "Fibronectin type III domain containing|Interleukin receptors" "555|602" 1997-02-10 2015-12-11 2023-01-20 3595 ENSG00000081985 OTTHUMG00000009094 uc001ddu.3 U64198 NM_001559 "CCDS58006|CCDS72805|CCDS638|CCDS58007" Q99665 "9284929|8943050" MGI:1270861 RGD:620026 LRG_707|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_707.xml 601642 objectId:1716 HGNC:5972 "ENST00000674203.2|NM_001374259.2" HGNC:5973 IL13 interleukin 13 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "P600|IL-13|ALRH|BHR1|MGC116786|MGC116788|MGC116789" "allergic rhinitis|Bronchial hyperresponsiveness-1 (bronchial asthma)" Interleukins 601 1993-04-07 2023-01-20 3596 ENSG00000169194 OTTHUMG00000059723 uc003kxj.2 U31120 NM_002188 CCDS4157 P35225 MGI:96541 RGD:68949 147683 ligandId:4980 HGNC:5973 "ENST00000304506.7|NM_002188.3" HGNC:5974 IL13RA1 interleukin 13 receptor subunit alpha 1 protein-coding gene gene with protein product Approved Xq24 Xq24 "IL-13Ra|NR4|CD213a1" "IL13 receptor alpha-1 chain|CD213a1 antigen" interleukin 13 receptor, alpha 1 "CD molecules|Interleukin receptors" "471|602" 1998-03-26 2015-12-11 2023-01-20 3597 ENSG00000131724 OTTHUMG00000022258 uc004eqs.4 U62858 NM_001560 CCDS14573 P78552 "8910586|9013879" MGI:105052 RGD:628741 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL13RA1 300119 objectId:1700 CD213a1 HGNC:5974 "ENST00000371666.8|NM_001560.3" HGNC:5975 IL13RA2 interleukin 13 receptor subunit alpha 2 protein-coding gene gene with protein product Approved Xq23 Xq23 "IL-13R|IL13BP|CD213a2|CT19" cancer/testis antigen 19 interleukin 13 receptor, alpha 2 "CD molecules|Interleukin receptors" "471|602" 1998-03-26 2015-12-11 2023-01-20 3598 ENSG00000123496 OTTHUMG00000022229 uc004epx.4 X95302 NM_000640 CCDS14565 Q14627 "8663118|9083087" MGI:1277954 RGD:620838 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL13RA2 300130 objectId:1701 CD213a2 HGNC:5975 "ENST00000243213.2|NM_000640.3" HGNC:5977 IL15 interleukin 15 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "IL-15|MGC9721" Interleukins 601 1994-07-11 2023-01-20 3600 ENSG00000164136 OTTHUMG00000133418 uc003iit.4 U14407 NM_172175 "CCDS3755|CCDS3756" P40933 8178155 MGI:103014 RGD:2887 600554 ligandId:4981 HGNC:5977 "ENST00000320650.9|NM_000585.5" -HGNC:5978 IL15RA interleukin 15 receptor subunit alpha protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "CD215|IL-15RA" interleukin 15 receptor, alpha "CD molecules|Interleukin receptors|Sushi domain containing" "471|602|1179" 1995-08-10 2015-12-11 2023-01-20 3601 ENSG00000134470 OTTHUMG00000017612 uc021pmo.2 U31628 "NM_172200|NM_002189" "CCDS7074|CCDS7075|CCDS58069|CCDS73065" Q13261 8530383 MGI:104644 RGD:1305149 601070 objectId:1702 CD215 HGNC:5978 "ENST00000379977.8|NM_002189.4" +HGNC:5978 IL15RA interleukin 15 receptor subunit alpha protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "CD215|IL-15RA" interleukin 15 receptor, alpha "CD molecules|Interleukin receptors|Sushi domain containing" "471|602|1179" 1995-08-10 2015-12-11 2023-01-20 3601 ENSG00000134470 OTTHUMG00000017612 uc021pmo.2 U31628 "NM_172200|NM_002189" "CCDS7075|CCDS73065|CCDS7074|CCDS58069" Q13261 8530383 MGI:104644 RGD:1305149 601070 objectId:1702 CD215 HGNC:5978 "ENST00000379977.8|NM_002189.4" HGNC:5980 IL16 interleukin 16 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "LCF|IL-16|prIL-16|HsT19289|FLJ42735|FLJ16806" "prointerleukin 16|lymphocyte chemoattractant factor" interleukin 16 (lymphocyte chemoattractant factor) "Interleukins|PDZ domain containing" "601|1220" 1997-07-25 2011-07-14 2023-01-20 3603 ENSG00000172349 OTTHUMG00000144186 uc021ssh.2 U82972 NM_172217 "CCDS10317|CCDS42069|CCDS53966" Q14005 9144227 MGI:1270855 RGD:1583872 603035 HGNC:5980 "ENST00000683961.1|NM_172217.5" HGNC:5981 IL17A interleukin 17A protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "IL-17A|IL-17" cytotoxic T-lymphocyte-associated protein 8 "CTLA8|IL17" interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8) Interleukins 601 1993-10-25 2006-04-26 2006-04-26 2023-01-20 3605 ENSG00000112115 OTTHUMG00000014840 uc003pak.1 U32659 NM_002190 CCDS4937 Q16552 8390535 MGI:107364 RGD:2888 LRG_1223|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1223.xml 603149 ligandId:4982 HGNC:5981 "ENST00000648244.1|NM_002190.3" HGNC:5982 IL17B interleukin 17B protein-coding gene gene with protein product Approved 5q32 05q32 "IL-17B|ZCYTO7|IL-20|MGC138900|MGC138901|NIRF" neuronal interleukin-17-related factor Interleukins 601 2000-01-20 2023-01-20 27190 ENSG00000127743 OTTHUMG00000130051 uc003lqo.4 AF184969 NM_014443 CCDS4297 Q9UHF5 10639155 MGI:1928397 RGD:620614 604627 ligandId:5877 HGNC:5982 "ENST00000261796.4|NM_014443.3" HGNC:5983 IL17C interleukin 17C protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "IL-17C|CX2|IL-21|MGC126884|MGC138401" Interleukins 601 2000-01-20 2023-01-20 27189 ENSG00000124391 OTTHUMG00000173241 uc002fla.4 AF152099 NM_013278 CCDS42217 Q9P0M4 10639155 MGI:2446486 RGD:1582798 604628 ligandId:5875 HGNC:5983 "ENST00000244241.5|NM_013278.4" HGNC:5984 IL17D interleukin 17D protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "IL-27|IL-17D|IL27|FLJ30846" interleukin 27 Interleukins 601 2000-05-02 2023-01-20 53342 ENSG00000172458 OTTHUMG00000016521 uc001unm.3 AY078238 NM_138284 CCDS9292 Q8TAD2 12097364 MGI:2446510 RGD:1595926 607587 HGNC:5984 "ENST00000682841.1|NM_001385224.1" HGNC:16404 IL17F interleukin 17F protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "IL-17F|ML-1|ML1" Interleukins 601 2002-03-18 2023-03-15 112744 ENSG00000112116 OTTHUMG00000014845 uc003pam.2 AF384857 NM_052872 CCDS4938 Q96PD4 "11591732|11591768" MGI:2676631 RGD:1311398 LRG_356|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_356.xml 606496 266117 ligandId:5873 HGNC:16404 "ENST00000336123.5|NM_052872.4" HGNC:16404 -HGNC:5985 IL17RA interleukin 17 receptor A protein-coding gene gene with protein product Approved 22q11.1 22q11.1 "hIL-17R|IL-17RA|CDw217|CD217" IL17R interleukin 17 receptor "CD molecules|Interleukin receptors" "471|602" 1999-10-29 2006-04-26 2006-04-26 2023-01-20 23765 ENSG00000177663 OTTHUMG00000150026 uc002zly.5 U58917 NM_014339 "CCDS13739|CCDS77645" Q96F46 "9367539|10591208" MGI:107399 RGD:1306559 LRG_355|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_355.xml 605461 266109 objectId:1738 CDw217 HGNC:5985 "ENST00000319363.11|NM_014339.7" HGNC:5985 +HGNC:5985 IL17RA interleukin 17 receptor A protein-coding gene gene with protein product Approved 22q11.1 22q11.1 "hIL-17R|IL-17RA|CDw217|CD217" IL17R interleukin 17 receptor "CD molecules|Interleukin receptors" "471|602" 1999-10-29 2006-04-26 2006-04-26 2023-01-20 23765 ENSG00000177663 OTTHUMG00000150026 uc002zly.5 U58917 NM_014339 "CCDS77645|CCDS13739" Q96F46 "9367539|10591208" MGI:107399 RGD:1306559 LRG_355|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_355.xml 605461 266109 objectId:1738 CDw217 HGNC:5985 "ENST00000319363.11|NM_014339.7" HGNC:5985 HGNC:18015 IL17RB interleukin 17 receptor B protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "IL17RH1|EVI27|CRL4" IL17BR interleukin 17B receptor Interleukin receptors 602 2002-01-18 2003-07-09 2023-01-20 55540 ENSG00000056736 OTTHUMG00000158280 uc003dha.4 AF212365 NM_172234 CCDS2874 Q9NRM6 "10749887|10815801" MGI:1355292 RGD:1311392 605458 objectId:1739 HGNC:18015 "ENST00000288167.8|NM_018725.4" -HGNC:18358 IL17RC interleukin 17 receptor C protein-coding gene gene with protein product Approved 3p25.3 03p25.3 IL17-RL Interleukin receptors 602 2003-07-07 2023-03-15 84818 ENSG00000163702 OTTHUMG00000128648 uc003bua.4 BC006411 NM_032732 "CCDS93203|CCDS93202|CCDS56241|CCDS2591|CCDS46746|CCDS56240|CCDS93201|CCDS74898|CCDS2590" Q8NAC3 11706037 MGI:2159336 RGD:1306392 LRG_1311|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1311.xml 610925 431928 objectId:1740 HGNC:18358 "ENST00000403601.8|NM_153460.4" HGNC:18358 -HGNC:17616 IL17RD interleukin 17 receptor D protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "SEF|IL17RLM|FLJ35755|IL-17RD" similar expression to fgf genes "Interleukin receptors|TIR domain containing" "602|1296" 2003-07-07 2023-01-20 54756 ENSG00000144730 OTTHUMG00000150171 uc003dil.3 AF494208 NM_017563 "CCDS82790|CCDS2880" Q8NFM7 "11802164|12604616|31175175" MGI:2159727 RGD:1565237 606807 353734 objectId:1741 HGNC:17616 "ENST00000296318.12|NM_017563.5" HGNC:17616 +HGNC:18358 IL17RC interleukin 17 receptor C protein-coding gene gene with protein product Approved 3p25.3 03p25.3 IL17-RL Interleukin receptors 602 2003-07-07 2023-03-15 84818 ENSG00000163702 OTTHUMG00000128648 uc003bua.4 BC006411 NM_032732 "CCDS2591|CCDS93202|CCDS74898|CCDS93203|CCDS56240|CCDS56241|CCDS93201|CCDS46746|CCDS2590" Q8NAC3 11706037 MGI:2159336 RGD:1306392 LRG_1311|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1311.xml 610925 431928 objectId:1740 HGNC:18358 "ENST00000403601.8|NM_153460.4" HGNC:18358 +HGNC:17616 IL17RD interleukin 17 receptor D protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "SEF|IL17RLM|FLJ35755|IL-17RD" similar expression to fgf genes "Interleukin receptors|TIR domain containing" "602|1296" 2003-07-07 2023-01-20 54756 ENSG00000144730 OTTHUMG00000150171 uc003dil.3 AF494208 NM_017563 "CCDS2880|CCDS82790" Q8NFM7 "11802164|12604616|31175175" MGI:2159727 RGD:1565237 606807 353734 objectId:1741 HGNC:17616 "ENST00000296318.12|NM_017563.5" HGNC:17616 HGNC:18439 IL17RE interleukin 17 receptor E protein-coding gene gene with protein product Approved 3p25.3 03p25.3 FLJ23658 Interleukin receptors 602 2003-07-07 2023-03-15 132014 ENSG00000163701 OTTHUMG00000128649 uc003btw.4 AF458069 NM_153480 "CCDS2589|CCDS54552" Q8NFR9 MGI:1889371 RGD:735148 614995 objectId:1742 HGNC:18439 "ENST00000383814.8|NM_153480.2" HGNC:33808 IL17REL interleukin 17 receptor E like protein-coding gene gene with protein product Approved 22q13.33 22q13.33 FLJ41993 2007-12-14 2016-06-13 2023-03-15 400935 ENSG00000188263 OTTHUMG00000150242 uc003bje.2 AK123987 NM_001001694 "CCDS93182|CCDS93181" Q6ZVW7 613414 HGNC:33808 "ENST00000695950.1|NM_001371417.1" -HGNC:5986 IL18 interleukin 18 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "IGIF|IL1F4|IL-1g|IL-18" interferon-gamma-inducing factor interleukin 18 (interferon-gamma-inducing factor) Interleukins 601 1997-07-25 2014-04-04 2023-01-20 3606 ENSG00000150782 OTTHUMG00000167006 uc001pnb.2 U90434 NM_001562 "CCDS58180|CCDS44731" Q14116 "7477296|9693051" MGI:107936 RGD:2889 600953 470496 ligandId:4983 HGNC:5986 "ENST00000280357.12|NM_001562.4" -HGNC:5987 IL18BP interleukin 18 binding protein protein-coding gene gene with protein product Approved 11q13.4 11q13.4 IL18BPa MC51L-53L-54L homolog gene product Immunoglobulin like domain containing 594 1999-05-21 2023-03-15 10068 ENSG00000137496 OTTHUMG00000133713 uc001orf.2 AF110798 NM_173042 "CCDS44666|CCDS8206|CCDS8205|CCDS8207" O95998 10023777 MGI:1333800 RGD:620042 604113 HGNC:5987 "ENST00000393703.9|NM_001039660.2" +HGNC:5986 IL18 interleukin 18 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "IGIF|IL1F4|IL-1g|IL-18" interferon-gamma-inducing factor interleukin 18 (interferon-gamma-inducing factor) Interleukins 601 1997-07-25 2014-04-04 2023-01-20 3606 ENSG00000150782 OTTHUMG00000167006 uc001pnb.2 U90434 NM_001562 "CCDS44731|CCDS58180" Q14116 "7477296|9693051" MGI:107936 RGD:2889 600953 470496 ligandId:4983 HGNC:5986 "ENST00000280357.12|NM_001562.4" +HGNC:5987 IL18BP interleukin 18 binding protein protein-coding gene gene with protein product Approved 11q13.4 11q13.4 IL18BPa MC51L-53L-54L homolog gene product Immunoglobulin like domain containing 594 1999-05-21 2023-03-15 10068 ENSG00000137496 OTTHUMG00000133713 uc001orf.2 AF110798 NM_173042 "CCDS8205|CCDS8206|CCDS44666|CCDS8207" O95998 10023777 MGI:1333800 RGD:620042 604113 HGNC:5987 "ENST00000393703.9|NM_001039660.2" HGNC:5988 IL18R1 interleukin 18 receptor 1 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "IL1RRP|IL-1Rrp|CD218a" "CD molecules|Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing" "471|594|602|1296" 1998-12-17 2023-01-20 8809 ENSG00000115604 OTTHUMG00000130780 uc002tbw.7 U43672 NM_003855 CCDS2060 Q13478 "8626725|10191101" MGI:105383 RGD:1308589 604494 objectId:1737 CDw218a HGNC:5988 "ENST00000233957.7|NM_003855.5" -HGNC:5989 IL18RAP interleukin 18 receptor accessory protein protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "AcPL|CD218b" "CD molecules|Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing|MicroRNA protein coding host genes" "471|594|602|1296|1691" 1998-12-17 2023-01-20 8807 ENSG00000115607 OTTHUMG00000130777 uc002tbx.4 AF077346 NM_003853 "CCDS92824|CCDS2061" O95256 9792649 MGI:1338888 RGD:727867 604509 objectId:2320 CDw218b HGNC:5989 "ENST00000687160.1|NM_001393487.1" +HGNC:5989 IL18RAP interleukin 18 receptor accessory protein protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "AcPL|CD218b" "CD molecules|Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing|MicroRNA protein coding host genes" "471|594|602|1296|1691" 1998-12-17 2023-01-20 8807 ENSG00000115607 OTTHUMG00000130777 uc002tbx.4 AF077346 NM_003853 "CCDS2061|CCDS92824" O95256 9792649 MGI:1338888 RGD:727867 604509 objectId:2320 CDw218b HGNC:5989 "ENST00000687160.1|NM_001393487.1" HGNC:5990 IL19 interleukin 19 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "IL-19|MDA1|ZMDA1|IL-10C|NG.1" melanoma differentiation associated protein-like protein Interleukins 601 2000-03-29 2023-01-20 29949 ENSG00000142224 OTTHUMG00000036387 uc001heo.3 AF192498 NM_153758 CCDS1469 Q9UHD0 11196675 MGI:1890472 RGD:1583546 605687 ligandId:4984 HGNC:5990 "ENST00000659997.3|NM_153758.5" HGNC:6002 IL20 interleukin 20 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "ZCYTO10|IL10D|IL-20" Interleukins 601 2000-03-29 2023-01-20 50604 ENSG00000162891 OTTHUMG00000036456 uc031vlv.2 AF224266 NM_018724 "CCDS91155|CCDS1470" Q9NYY1 11163236 MGI:1890473 RGD:1583578 605619 ligandId:4986 HGNC:6002 "ENST00000367098.6|NM_018724.4" -HGNC:6003 IL20RA interleukin 20 receptor subunit alpha protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "ZCYTOR7|IL-20R1" "interleukin 20 receptor, alpha|interleukin 20 receptor alpha subunit" Interleukin receptors 602 2000-05-23 2015-12-11 2023-01-20 53832 ENSG00000016402 OTTHUMG00000015654 uc003qhj.5 AF184971 NM_014432 "CCDS64535|CCDS5181|CCDS64536" Q9UHF4 "10875937|11163236" MGI:3605069 RGD:1307335 605620 objectId:1729 HGNC:6003 "ENST00000316649.10|NM_014432.4" +HGNC:6003 IL20RA interleukin 20 receptor subunit alpha protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "ZCYTOR7|IL-20R1" "interleukin 20 receptor, alpha|interleukin 20 receptor alpha subunit" Interleukin receptors 602 2000-05-23 2015-12-11 2023-01-20 53832 ENSG00000016402 OTTHUMG00000015654 uc003qhj.5 AF184971 NM_014432 "CCDS64536|CCDS64535|CCDS5181" Q9UHF4 "10875937|11163236" MGI:3605069 RGD:1307335 605620 objectId:1729 HGNC:6003 "ENST00000316649.10|NM_014432.4" HGNC:6004 IL20RB interleukin 20 receptor subunit beta protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "DIRS1|IL-20R2|MGC34923" FNDC6 "fibronectin type III domain containing 6|interleukin 20 receptor beta|interleukin 20 receptor beta subunit" "Fibronectin type III domain containing|Interleukin receptors" "555|602" 2000-05-23 2015-12-11 2023-01-20 53833 ENSG00000174564 OTTHUMG00000159779 uc003eri.3 BC033292 NM_144717 CCDS3093 Q6UXL0 "11163236|16703417" MGI:2143266 RGD:1566151 605621 objectId:1730 HGNC:6004 "ENST00000329582.9|NM_144717.4" HGNC:40298 IL20RB-AS1 IL20RB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q22.3 03q22.3 IL20RB antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 107986136 ENSG00000249407 OTTHUMG00000163091 uc062oel.1 NR_183727 IL20RB-AS1 HGNC:40298 -HGNC:6005 IL21 interleukin 21 protein-coding gene gene with protein product Approved 4q27 04q27 "Za11|IL-21" Interleukins 601 2000-03-29 2023-01-20 59067 ENSG00000138684 OTTHUMG00000133073 uc003ies.4 AF254069 NM_021803 "CCDS75189|CCDS3727" Q9HBE4 "11081504|17947662" MGI:1890474 RGD:1307384 LRG_1263|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1263.xml 605384 402379 ligandId:4987 HGNC:6005 "ENST00000648588.1|NM_021803.4" HGNC:6005 +HGNC:6005 IL21 interleukin 21 protein-coding gene gene with protein product Approved 4q27 04q27 "Za11|IL-21" Interleukins 601 2000-03-29 2023-01-20 59067 ENSG00000138684 OTTHUMG00000133073 uc003ies.4 AF254069 NM_021803 "CCDS3727|CCDS75189" Q9HBE4 "11081504|17947662" MGI:1890474 RGD:1307384 LRG_1263|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1263.xml 605384 402379 ligandId:4987 HGNC:6005 "ENST00000648588.1|NM_021803.4" HGNC:6005 HGNC:40299 IL21-AS1 IL21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q27 04q27 IL21 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-09 2012-08-15 2014-11-19 100996941 ENSG00000227145 OTTHUMG00000150127 uc003iet.4 BC045668 NR_104126 IL21-AS1 HGNC:40299 HGNC:6006 IL21R interleukin 21 receptor protein-coding gene gene with protein product Approved 16p12.1 16p12.1 CD360 "CD molecules|Interleukin receptors" "471|602" 2000-03-29 2023-01-20 50615 ENSG00000103522 OTTHUMG00000131675 uc002doq.2 AF254067 NM_181078 CCDS10630 Q9HBE5 11081504 MGI:1890475 RGD:1304950 LRG_731|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_731.xml IL21R 605383 357435 objectId:1703 HGNC:6006 "ENST00000337929.8|NM_181078.3" HGNC:6006 HGNC:27551 IL21R-AS1 IL21R antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 IL21R antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2017-02-01 283888 ENSG00000259954 OTTHUMG00000176806 uc002dot.4 AK093371 NR_037158 26857419 IL21R-AS1 HGNC:27551 HGNC:14900 IL22 interleukin 22 protein-coding gene gene with protein product Approved 12q15 12q15 "ILTIF|IL-21|zcyto18|IL-TIF|IL-D110|TIFa|TIFIL-23|IL-22|MGC79382|MGC79384" IL-10-related T-cell-derived inducible factor Interleukins 601 2001-03-12 2023-01-20 50616 ENSG00000127318 OTTHUMG00000169119 uc010stb.2 AF279437 NM_020525 CCDS8982 Q9GZX6 "10954742|10875937" "MGI:1355307|MGI:2151139" RGD:1561292 LRG_1248|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1248.xml 605330 471222 ligandId:4988 HGNC:14900 "ENST00000538666.6|NM_020525.5" HGNC:13700 IL22RA1 interleukin 22 receptor subunit alpha 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CRF2-9 IL22R "interleukin 22 receptor|interleukin 22 receptor, alpha 1" Interleukin receptors 602 2000-10-16 2002-12-06 2015-12-11 2023-01-20 58985 ENSG00000142677 OTTHUMG00000003041 uc001biq.3 AF286095 NM_021258 CCDS247 Q8N6P7 10875937 MGI:2663588 RGD:1559655 605457 objectId:1731 HGNC:13700 "ENST00000270800.2|NM_021258.4" -HGNC:14901 IL22RA2 interleukin 22 receptor subunit alpha 2 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "CRF2-S1|IL-22BP" interleukin 22 receptor, alpha 2 Interleukin receptors 602 2002-12-02 2015-12-11 2023-01-20 116379 ENSG00000164485 OTTHUMG00000015655 uc003qhm.3 AY044429 NM_052962 "CCDS5183|CCDS5184|CCDS5182" Q969J5 "11481447|11390454" MGI:2665114 RGD:1303169 606648 objectId:1732 HGNC:14901 "ENST00000296980.7|NM_052962.3" +HGNC:14901 IL22RA2 interleukin 22 receptor subunit alpha 2 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "CRF2-S1|IL-22BP" interleukin 22 receptor, alpha 2 Interleukin receptors 602 2002-12-02 2015-12-11 2023-01-20 116379 ENSG00000164485 OTTHUMG00000015655 uc003qhm.3 AY044429 NM_052962 "CCDS5183|CCDS5182|CCDS5184" Q969J5 "11481447|11390454" MGI:2665114 RGD:1303169 606648 objectId:1732 HGNC:14901 "ENST00000296980.7|NM_052962.3" HGNC:15488 IL23A interleukin 23 subunit alpha protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "SGRF|IL23P19|IL-23|IL-23A|P19" interleukin-six, G-CSF related factor interleukin 23, alpha subunit p19 Interleukins 601 2001-04-10 2015-12-11 2023-01-20 51561 ENSG00000110944 OTTHUMG00000187402 uc001sla.4 AB030000 NM_016584 CCDS8916 Q9NPF7 11114383 MGI:1932410 RGD:620873 605580 ligandId:4989 HGNC:15488 "ENST00000228534.6|NM_016584.3" HGNC:19100 IL23R interleukin 23 receptor protein-coding gene gene with protein product Approved 1p31.3 01p31.3 IL-23R 2004-10-18 2023-01-20 149233 ENSG00000162594 OTTHUMG00000009092 uc001ddo.4 AF461422 NM_144701 CCDS637 Q5VWK5 12023369 MGI:2181693 RGD:1586368 607562 122638 objectId:1717 HGNC:19100 "ENST00000347310.10|NM_144701.3" -HGNC:11346 IL24 interleukin 24 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "mda-7|IL10B|Mob-5|C49A|FISP|IL-24" "melanoma differentiation association protein 7|suppression of tumorigenicity 16 (melanoma differentiation)|IL-4-induced secreted protein" ST16 Interleukins 601 1999-12-02 2001-06-29 2023-03-15 11009 ENSG00000162892 OTTHUMG00000036459 uc001hew.3 U16261 NM_006850 "CCDS1471|CCDS53466|CCDS53465|CCDS73021" Q13007 "8545104|8799171" MGI:2135548 RGD:621484 604136 ligandId:4990 HGNC:11346 "ENST00000294984.7|NM_006850.3" +HGNC:11346 IL24 interleukin 24 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "mda-7|IL10B|Mob-5|C49A|FISP|IL-24" "melanoma differentiation association protein 7|suppression of tumorigenicity 16 (melanoma differentiation)|IL-4-induced secreted protein" ST16 Interleukins 601 1999-12-02 2001-06-29 2023-03-15 11009 ENSG00000162892 OTTHUMG00000036459 uc001hew.3 U16261 NM_006850 "CCDS53466|CCDS73021|CCDS53465|CCDS1471" Q13007 "8545104|8799171" MGI:2135548 RGD:621484 604136 ligandId:4990 HGNC:11346 "ENST00000294984.7|NM_006850.3" HGNC:13765 IL25 interleukin 25 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "IL-25|IL-17E" IL17E interleukin 17E Interleukins 601 2001-01-26 2006-05-17 2006-05-17 2023-01-20 64806 ENSG00000166090 OTTHUMG00000028749 uc001wjr.3 AF305200 NM_022789 Q9H293 "11058597|11754819" MGI:2155888 RGD:1561632 605658 ligandId:5876 HGNC:13765 HGNC:17119 IL26 interleukin 26 protein-coding gene gene with protein product Approved 12q15 12q15 "AK155|IL-26" Interleukins 601 2001-11-23 2023-01-20 55801 ENSG00000111536 OTTHUMG00000169114 uc001stx.2 AJ251549 NM_018402 CCDS8981 Q9NPH9 "10729163|11528524" 605679 HGNC:17119 "ENST00000229134.5|NM_018402.2" HGNC:19157 IL27 interleukin 27 protein-coding gene gene with protein product Approved 16p12.1-p11.2 16p12.1-p11.2 "IL-27|p28|IL27p28|IL-27A|IL27A|MGC71873" IL30 interleukin 30 Interleukins 601 2002-11-04 2003-12-19 2003-12-17 2023-01-20 246778 ENSG00000197272 OTTHUMG00000097023 uc002dqc.3 AY099296 NM_145659 CCDS10633 Q8NEV9 12121660 MGI:2384409 RGD:1561420 608273 ligandId:6152 HGNC:19157 "ENST00000356897.1|NM_145659.3" HGNC:17290 IL27RA interleukin 27 receptor subunit alpha protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "WSX-1|TCCR|CRL1|WSX1|zcytor1|IL-27R" T-cell cytokine receptor type 1 interleukin 27 receptor, alpha "Fibronectin type III domain containing|Interleukin receptors" "555|602" 2004-02-10 2015-12-11 2023-01-20 9466 ENSG00000104998 OTTHUMG00000181990 uc002mxx.5 AF053004 NM_004843 CCDS12303 Q6UWB1 "9600072|11057672" MGI:1355318 RGD:1305029 605350 objectId:2318 HGNC:17290 "ENST00000263379.4|NM_004843.4" HGNC:19372 IL31 interleukin 31 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 IL-31 Interleukins 601 2003-11-06 2023-01-20 386653 ENSG00000204671 OTTHUMG00000168916 uc001ubv.3 AY499343 NM_001014336 CCDS31919 Q6EBC2 15184896 MGI:1923649 RGD:1585183 609509 ligandId:4995 HGNC:19372 "ENST00000377035.2|NM_001014336.2" -HGNC:18969 IL31RA interleukin 31 receptor A protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "CRL3|GLM-R|CRL|Glmr|IL-31RA" "Fibronectin type III domain containing|Interleukin receptors" "555|602" 2003-11-06 2023-01-20 133396 ENSG00000164509 OTTHUMG00000097045 uc003jql.4 AY499339 NM_139017 "CCDS56367|CCDS56365|CCDS3970|CCDS75245|CCDS75244" Q8NI17 "15184896|11877449" MGI:2180511 RGD:1586478 609510 220737 objectId:1710 HGNC:18969 "ENST00000652347.2|NM_139017.7" HGNC:18969 -HGNC:16830 IL32 interleukin 32 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "NK4|TAIF|TAIFb|TAIFd" natural killer cell transcript 4 Interleukins 601 2005-02-08 2023-01-20 9235 ENSG00000008517 OTTHUMG00000167498 uc002cto.4 M59807 NM_004221 "CCDS92092|CCDS92093|CCDS32377|CCDS32379|CCDS32378|CCDS76811|CCDS45394" P24001 "1729377|9653642" 606001 HGNC:16830 "ENST00000525643.7|NM_001376923.1" -HGNC:16028 IL33 interleukin 33 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "DVS27|DKFZp586H0523|NF-HEV|IL1F11" "DVS27-related protein|nuclear factor for high endothelial venules|interleukin-1 family, member 11" C9orf26 chromosome 9 open reading frame 26 (NF-HEV) Interleukins 601 2003-12-18 2006-11-20 2006-11-20 2023-01-20 90865 ENSG00000137033 OTTHUMG00000019516 uc064sap.1 AB024518 NM_033439 "CCDS6468|CCDS56563|CCDS83341|CCDS56564" O95760 "10566975|12819012" MGI:1924375 RGD:1311155 608678 ligandId:5880 HGNC:16028 "ENST00000682010.1|NM_033439.4" -HGNC:28529 IL34 interleukin 34 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "MGC34647|IL-34" C16orf77 chromosome 16 open reading frame 77 Interleukins 601 2006-08-01 2008-06-04 2008-06-04 2023-01-20 146433 ENSG00000157368 OTTHUMG00000137581 uc002ezh.2 BC029804 NM_152456 "CCDS10895|CCDS92192" Q6ZMJ4 18467591 MGI:1923777 RGD:1586038 612081 ligandId:8975 HGNC:28529 "ENST00000288098.7|NM_001393494.1" +HGNC:18969 IL31RA interleukin 31 receptor A protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "CRL3|GLM-R|CRL|Glmr|IL-31RA" "Fibronectin type III domain containing|Interleukin receptors" "555|602" 2003-11-06 2023-01-20 133396 ENSG00000164509 OTTHUMG00000097045 uc003jql.4 AY499339 NM_139017 "CCDS75244|CCDS56367|CCDS3970|CCDS75245|CCDS56365" Q8NI17 "15184896|11877449" MGI:2180511 RGD:1586478 609510 220737 objectId:1710 HGNC:18969 "ENST00000652347.2|NM_139017.7" HGNC:18969 +HGNC:16830 IL32 interleukin 32 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "NK4|TAIF|TAIFb|TAIFd" natural killer cell transcript 4 Interleukins 601 2005-02-08 2023-01-20 9235 ENSG00000008517 OTTHUMG00000167498 uc002cto.4 M59807 NM_004221 "CCDS92093|CCDS32377|CCDS45394|CCDS92092|CCDS32378|CCDS76811|CCDS32379" P24001 "1729377|9653642" 606001 HGNC:16830 "ENST00000525643.7|NM_001376923.1" +HGNC:16028 IL33 interleukin 33 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "DVS27|DKFZp586H0523|NF-HEV|IL1F11" "DVS27-related protein|nuclear factor for high endothelial venules|interleukin-1 family, member 11" C9orf26 chromosome 9 open reading frame 26 (NF-HEV) Interleukins 601 2003-12-18 2006-11-20 2006-11-20 2023-01-20 90865 ENSG00000137033 OTTHUMG00000019516 uc064sap.1 AB024518 NM_033439 "CCDS56563|CCDS56564|CCDS83341|CCDS6468" O95760 "10566975|12819012" MGI:1924375 RGD:1311155 608678 ligandId:5880 HGNC:16028 "ENST00000682010.1|NM_033439.4" +HGNC:28529 IL34 interleukin 34 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "MGC34647|IL-34" C16orf77 chromosome 16 open reading frame 77 Interleukins 601 2006-08-01 2008-06-04 2008-06-04 2023-01-20 146433 ENSG00000157368 OTTHUMG00000137581 uc002ezh.2 BC029804 NM_152456 "CCDS92192|CCDS10895" Q6ZMJ4 18467591 MGI:1923777 RGD:1586038 612081 ligandId:8975 HGNC:28529 "ENST00000288098.7|NM_001393494.1" HGNC:15562 IL36A interleukin 36 alpha protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FIL1|FIL1E|IL-1F6|IL1(EPSILON)|MGC129553|MGC129552" IL1F6 interleukin 1 family, member 6 (epsilon) Interleukins 601 2002-08-02 2011-06-06 2017-09-14 2023-01-20 27179 ENSG00000136694 OTTHUMG00000153320 uc010yxr.3 AF201831 NM_014440 CCDS42734 Q9UHA7 10625660 MGI:1859324 RGD:1306869 605509 ligandId:5881 HGNC:15562 "ENST00000259211.7|NM_014440.3" -HGNC:15564 IL36B interleukin 36 beta protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FIL1|IL-1H2|IL-1F8|FILI-(ETA)|IL1-ETA|IL1H2|MGC126880|MGC126882" IL1F8 interleukin 1 family, member 8 (eta) Interleukins 601 2002-08-02 2011-06-06 2017-09-14 2023-01-20 27177 ENSG00000136696 OTTHUMG00000131338 uc002tiq.2 AF201833 NM_014438 "CCDS2109|CCDS2110" Q9NZH7 "10625660|10512743|16646978" MGI:1916927 RGD:1307847 605508 ligandId:5882 HGNC:15564 "ENST00000259213.9|NM_014438.5" -HGNC:15741 IL36G interleukin 36 gamma protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "IL-1H1|IL-1RP2|IL-1F9|IL1H1|IL1E" "interleukin-1 homolog 1|interleukin 1-related protein 2|interleukin-1 epsilon" IL1F9 interleukin 1 family, member 9 Interleukins 601 2002-08-02 2011-06-06 2017-09-14 2023-01-20 56300 ENSG00000136688 OTTHUMG00000131336 uc002tio.3 AF200492 NM_019618 "CCDS2108|CCDS62992" Q9NZH8 "10860666|10744718|11991722|11991723" MGI:2449929 RGD:1563019 605542 ligandId:5883 HGNC:15741 "ENST00000259205.5|NM_019618.4" +HGNC:15564 IL36B interleukin 36 beta protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FIL1|IL-1H2|IL-1F8|FILI-(ETA)|IL1-ETA|IL1H2|MGC126880|MGC126882" IL1F8 interleukin 1 family, member 8 (eta) Interleukins 601 2002-08-02 2011-06-06 2017-09-14 2023-01-20 27177 ENSG00000136696 OTTHUMG00000131338 uc002tiq.2 AF201833 NM_014438 "CCDS2110|CCDS2109" Q9NZH7 "10625660|10512743|16646978" MGI:1916927 RGD:1307847 605508 ligandId:5882 HGNC:15564 "ENST00000259213.9|NM_014438.5" +HGNC:15741 IL36G interleukin 36 gamma protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "IL-1H1|IL-1RP2|IL-1F9|IL1H1|IL1E" "interleukin-1 homolog 1|interleukin 1-related protein 2|interleukin-1 epsilon" IL1F9 interleukin 1 family, member 9 Interleukins 601 2002-08-02 2011-06-06 2017-09-14 2023-01-20 56300 ENSG00000136688 OTTHUMG00000131336 uc002tio.3 AF200492 NM_019618 "CCDS62992|CCDS2108" Q9NZH8 "10860666|10744718|11991722|11991723" MGI:2449929 RGD:1563019 605542 ligandId:5883 HGNC:15741 "ENST00000259205.5|NM_019618.4" HGNC:15561 IL36RN interleukin 36 receptor antagonist protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FIL1|FIL1(DELTA)|FIL1D|IL1HY1|IL1RP3|IL1L1|IL-1F5|IL36RA|MGC29840" "family of interleukin 1-delta|interleukin-1 receptor antagonist homolog 1|interleukin-1 HY1|IL-1 related protein 3" IL1F5 interleukin 1 family, member 5 (delta) Interleukins 601 2002-08-02 2011-06-06 2011-06-06 2023-01-20 26525 ENSG00000136695 OTTHUMG00000131337 uc002tis.4 AF201830 NM_173170 CCDS2111 Q9UBH0 "10625660|10512743|11574262" MGI:1859325 RGD:1311212 LRG_730|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_730.xml 605507 281457 ligandId:5879 HGNC:15561 "ENST00000393200.7|NM_012275.3" HGNC:15561 -HGNC:15563 IL37 interleukin 37 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FIL1|FIL1Z|FIL1(ZETA)|IL-1H4|IL-1RP1|IL-1F7" "interleukin 1, zeta|interleukin-1 homolog 4|interleukin-1-related protein" IL1F7 interleukin 1 family, member 7 (zeta) Interleukins 601 2002-08-02 2011-06-06 2011-06-06 2023-01-20 27178 ENSG00000125571 OTTHUMG00000131345 uc002tij.4 AF201832 NM_014439 "CCDS2106|CCDS2107|CCDS2103|CCDS2105|CCDS2104" Q9NZH6 "10625660|10512743|12496389" 605510 ligandId:6149 HGNC:15563 "ENST00000263326.8|NM_014439.4" -HGNC:28741 ILDR1 immunoglobulin like domain containing receptor 1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 MGC50831 angulin-2 DFNB42 "deafness, autosomal recessive 42|immunoglobulin-like domain containing receptor 1" 2004-07-27 2016-01-21 2023-01-20 286676 ENSG00000145103 OTTHUMG00000159481 uc003eer.4 BC044240 NM_175924 "CCDS3008|CCDS56270|CCDS56271" Q86SU0 "15641023|21255762" MGI:2146574 RGD:1307792 LRG_1377|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1377.xml 609739 259373 HGNC:28741 "ENST00000344209.10|NM_001199799.2" HGNC:28741 -HGNC:18131 ILDR2 immunoglobulin like domain containing receptor 2 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 "LISCH-like|angulin-3" C1orf32 "chromosome 1 open reading frame 32|immunoglobulin-like domain containing receptor 2" 2004-04-30 2008-12-18 2016-01-21 2023-01-20 387597 ENSG00000143195 OTTHUMG00000034320 uc001gdx.3 AF503509 NM_199351 "CCDS91098|CCDS91097|CCDS1256" Q71H61 MGI:1196370 RGD:1596420 618081 objectId:2986 HGNC:18131 "ENST00000271417.8|NM_199351.3" -HGNC:6037 ILF2 interleukin enhancer binding factor 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 NF45 "interleukin enhancer binding factor 2, 45kD|interleukin enhancer binding factor 2, 45kDa" 1994-11-15 2012-12-04 2023-01-20 3608 ENSG00000143621 OTTHUMG00000037087 uc001fcr.5 U10323 NM_004515 "CCDS72919|CCDS1050" Q12905 7519613 MGI:1915031 RGD:1305734 603181 HGNC:6037 "ENST00000361891.9|NM_004515.4" +HGNC:15563 IL37 interleukin 37 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FIL1|FIL1Z|FIL1(ZETA)|IL-1H4|IL-1RP1|IL-1F7" "interleukin 1, zeta|interleukin-1 homolog 4|interleukin-1-related protein" IL1F7 interleukin 1 family, member 7 (zeta) Interleukins 601 2002-08-02 2011-06-06 2011-06-06 2023-01-20 27178 ENSG00000125571 OTTHUMG00000131345 uc002tij.4 AF201832 NM_014439 "CCDS2105|CCDS2103|CCDS2107|CCDS2104|CCDS2106" Q9NZH6 "10625660|10512743|12496389" 605510 ligandId:6149 HGNC:15563 "ENST00000263326.8|NM_014439.4" +HGNC:28741 ILDR1 immunoglobulin like domain containing receptor 1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 MGC50831 angulin-2 DFNB42 "deafness, autosomal recessive 42|immunoglobulin-like domain containing receptor 1" 2004-07-27 2016-01-21 2023-01-20 286676 ENSG00000145103 OTTHUMG00000159481 uc003eer.4 BC044240 NM_175924 "CCDS56270|CCDS56271|CCDS3008" Q86SU0 "15641023|21255762" MGI:2146574 RGD:1307792 LRG_1377|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1377.xml 609739 259373 HGNC:28741 "ENST00000344209.10|NM_001199799.2" HGNC:28741 +HGNC:18131 ILDR2 immunoglobulin like domain containing receptor 2 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 "LISCH-like|angulin-3" C1orf32 "chromosome 1 open reading frame 32|immunoglobulin-like domain containing receptor 2" 2004-04-30 2008-12-18 2016-01-21 2023-01-20 387597 ENSG00000143195 OTTHUMG00000034320 uc001gdx.3 AF503509 NM_199351 "CCDS1256|CCDS91097|CCDS91098" Q71H61 MGI:1196370 RGD:1596420 618081 objectId:2986 HGNC:18131 "ENST00000271417.8|NM_199351.3" +HGNC:6037 ILF2 interleukin enhancer binding factor 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 NF45 "interleukin enhancer binding factor 2, 45kD|interleukin enhancer binding factor 2, 45kDa" 1994-11-15 2012-12-04 2023-01-20 3608 ENSG00000143621 OTTHUMG00000037087 uc001fcr.5 U10323 NM_004515 "CCDS1050|CCDS72919" Q12905 7519613 MGI:1915031 RGD:1305734 603181 HGNC:6037 "ENST00000361891.9|NM_004515.4" HGNC:44695 ILF2P1 interleukin enhancer binding factor 2 pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 2012-12-04 2012-12-04 100421506 ENSG00000244226 OTTHUMG00000158735 NG_029778 PGOHUM00000238049 HGNC:44695 HGNC:44696 ILF2P2 interleukin enhancer binding factor 2 pseudogene 2 pseudogene pseudogene Approved 14q13.2 14q13.2 2012-12-04 2012-12-04 644616 ENSG00000257720 OTTHUMG00000170568 NG_022839 PGOHUM00000247771 HGNC:44696 HGNC:6038 ILF3 interleukin enhancer binding factor 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "NF90|MPHOSPH4|MPP4|NFAR-1|NFAR110|NFAR-2|TCP110|NF110|DRBP76|NFAR90|NF110b|NF90a|NF90c|NF90ctv|MPP4110" "M-phase phosphoprotein 4|nuclear factor of activated T-cells 90 kDa|nuclear factor of activated T-cells 110 kDa|translational control protein 80|double-stranded RNA-binding protein, 76 kD|M phase phosphoprotein 4, nuclear factor associated with DS RNA|dsRNA binding protein NFAR-2/MPP4" "interleukin enhancer binding factor 3, 90kD|interleukin enhancer binding factor 3, 90kDa" 1994-11-15 2015-11-09 2023-01-20 3609 ENSG00000129351 OTTHUMG00000180587 uc002mpo.4 U10324 NM_001137673 "CCDS12246|CCDS45965|CCDS45967|CCDS45966|CCDS12247" Q12906 "7519613|8885239|25447144" MGI:1339973 RGD:619734 603182 HGNC:6038 "ENST00000588657.6|NM_017620.3" HGNC:27115 ILF3-DT ILF3 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 ILF3-AS1 "ILF3 antisense RNA 1 (non-protein coding)|ILF3 antisense RNA 1|ILF3 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-08-10 2018-03-23 2018-12-20 2018-12-20 147727 ENSG00000267100 OTTHUMG00000180586 uc002mpj.4 "BC007593|BC044911|DB002247" NR_024333 28935763 ILF3-AS1 HGNC:27115 -HGNC:6040 ILK integrin linked kinase protein-coding gene gene with protein product Approved 11p15.4 11p15.4 integrin-linked kinase Ankyrin repeat domain containing 403 1997-05-22 2015-11-12 2023-01-20 3611 ENSG00000166333 OTTHUMG00000133407 uc001mef.5 U40282 NM_004517 "CCDS60713|CCDS60712|CCDS7768" Q13418 8538749 MGI:1195267 RGD:620063 LRG_444|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_444.xml 602366 objectId:2041 HGNC:6040 "ENST00000299421.9|NM_004517.4" HGNC:6040 +HGNC:6040 ILK integrin linked kinase protein-coding gene gene with protein product Approved 11p15.4 11p15.4 integrin-linked kinase Ankyrin repeat domain containing 403 1997-05-22 2015-11-12 2023-01-20 3611 ENSG00000166333 OTTHUMG00000133407 uc001mef.5 U40282 NM_004517 "CCDS7768|CCDS60713|CCDS60712" Q13418 8538749 MGI:1195267 RGD:620063 LRG_444|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_444.xml 602366 objectId:2041 HGNC:6040 "ENST00000299421.9|NM_004517.4" HGNC:6040 HGNC:15566 ILKAP ILK associated serine/threonine phosphatase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "DKFZP434J2031|FLJ10181|PPM1O" protein phosphatase, Mg2+/Mn2+ dependent 1O "integrin-linked kinase-associated serine/threonine phosphatase 2C|integrin-linked kinase-associated serine/threonine phosphatase" Protein phosphatases, Mg2+/Mn2+ dependent 701 2001-06-01 2015-11-12 2023-01-20 80895 ENSG00000132323 OTTHUMG00000133334 uc002vxv.4 AY024365 NM_030768 CCDS2526 Q9H0C8 MGI:1914694 RGD:620128 618909 3.1.3.16 HGNC:15566 "ENST00000254654.8|NM_030768.3" -HGNC:21215 ILRUN inflammation and lipid regulator with UBA-like and NBR1-like domains protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "FLJ22195|dJ391O22.4" C6orf106 chromosome 6 open reading frame 106 2003-11-25 2019-02-18 2019-02-18 2023-01-20 64771 ENSG00000196821 OTTHUMG00000014553 uc003ojr.4 AF052106 NM_022758 "CCDS4796|CCDS4795" Q9H6K1 "25736925|29802199|30252044|32518853" MGI:106281 RGD:1559829 612217 HGNC:21215 "ENST00000374023.8|NM_024294.4" +HGNC:21215 ILRUN inflammation and lipid regulator with UBA-like and NBR1-like domains protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "FLJ22195|dJ391O22.4" C6orf106 chromosome 6 open reading frame 106 2003-11-25 2019-02-18 2019-02-18 2023-01-20 64771 ENSG00000196821 OTTHUMG00000014553 uc003ojr.4 AF052106 NM_022758 "CCDS4795|CCDS4796" Q9H6K1 "25736925|29802199|30252044|32518853" MGI:106281 RGD:1559829 612217 HGNC:21215 "ENST00000374023.8|NM_024294.4" HGNC:55216 ILRUN-AS1 ILRUN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 Antisense RNAs 1987 2020-08-21 2020-08-21 101929243 ENSG00000272288 NR_134625 HGNC:54748 ILRUNP1 ILRUN pseudogene 1 pseudogene pseudogene Approved 2q12.2 02q12.2 2019-12-20 2019-12-20 105369222 ENSG00000227513 HGNC:6041 ILVBL ilvB acetolactate synthase like protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "209L8|AHAS|ILV2H|MGC1269|FLJ39061|MGC19535|HACL1L" "acetolactate synthase homolog|2-hydroxyacyl-CoA lyase 1 like" ilvB (bacterial acetolactate synthase)-like 1999-09-07 2016-06-22 2023-01-20 10994 ENSG00000105135 OTTHUMG00000165630 uc002nam.5 U61263 NM_006844 CCDS12325 A1L0T0 8954801 MGI:1351911 RGD:1307988 605770 HGNC:6041 "ENST00000263383.8|NM_006844.5" -HGNC:55279 ILVBL-AS1 ILVBL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 Antisense RNAs 1987 2020-10-07 2020-10-07 118827806 ENSG00000268564 +HGNC:55279 ILVBL-AS1 ILVBL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 Antisense RNAs 1987 2020-10-07 2020-10-07 118827806 ENSG00000268564 NR_186314 HGNC:26317 IMMP1L inner mitochondrial membrane peptidase subunit 1 protein-coding gene gene with protein product Approved 11p13 11p13 FLJ25059 IMMP1 IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) 2005-09-13 2015-06-25 2015-06-25 2023-01-20 196294 ENSG00000148950 OTTHUMG00000166226 uc001msy.1 NM_144981 CCDS7874 Q96LU5 15814844 MGI:1913791 RGD:1587441 612323 HGNC:26317 "ENST00000532287.6|NM_001304274.2" HGNC:51131 IMMP1LP1 inner mitochondrial membrane peptidase subunit 1 pseudogene 1 pseudogene pseudogene Approved 11q13.1 11q13.1 IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 1 2014-07-30 2015-06-25 2015-06-25 729101 ENSG00000270269 OTTHUMG00000184758 NG_033985 PGOHUM00000291002 HGNC:51131 HGNC:51132 IMMP1LP2 inner mitochondrial membrane peptidase subunit 1 pseudogene 2 pseudogene pseudogene Approved 12q24.13 12q24.13 IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 2 2014-07-30 2015-06-25 2015-11-30 105369987 ENSG00000258159 OTTHUMG00000169801 NG_042205 PGOHUM00000291809 HGNC:51132 HGNC:51134 IMMP1LP3 inner mitochondrial membrane peptidase subunit 1 pseudogene 3 pseudogene pseudogene Approved 7p22.3 07p22.3 IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 3 2014-07-30 2015-06-25 2015-06-25 106481715 ENSG00000271098 OTTHUMG00000184490 NG_045041 PGOHUM00000302504 HGNC:51134 -HGNC:14598 IMMP2L inner mitochondrial membrane peptidase subunit 2 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 IMP2 IMMP2L-IT1 "IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)|IMMP2L intronic transcript 1 (non-protein coding)|IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)" 2003-07-11 2015-06-25 2023-01-20 83943 ENSG00000184903 OTTHUMG00000155023 uc010ljr.3 AF359563 NM_032549 "CCDS87540|CCDS5753" Q96T52 11254443 MGI:2135611 RGD:2323665 605977 122646 S26.A09 HGNC:14598 "ENST00000405709.7|NM_032549.4" -HGNC:6047 IMMT inner membrane mitochondrial protein protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "P87|P89|HMP|MINOS2|Mic60|MICOS60" "mitofilin|mitochondrial inner membrane organizing system 2|heart muscle protein|mitochondrial contact site and cristae organizing system subunit 60" inner membrane protein, mitochondrial (mitofilin) "Mitochondrial contact site and cristae organizing system subunits|MicroRNA protein coding host genes" "1616|1691" 2000-03-09 2016-01-11 2023-01-20 10989 ENSG00000132305 OTTHUMG00000153170 uc002sqz.4 D21094 NM_006839 "CCDS92794|CCDS46357|CCDS46356|CCDS46355" Q16891 "9168817|8039717" MGI:1923864 RGD:1310684 600378 470498 HGNC:6047 "ENST00000410111.8|NM_006839.3" +HGNC:14598 IMMP2L inner mitochondrial membrane peptidase subunit 2 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 IMP2 IMMP2L-IT1 "IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)|IMMP2L intronic transcript 1 (non-protein coding)|IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)" 2003-07-11 2015-06-25 2023-01-20 83943 ENSG00000184903 OTTHUMG00000155023 uc010ljr.3 AF359563 NM_032549 "CCDS5753|CCDS87540" Q96T52 11254443 MGI:2135611 RGD:2323665 605977 122646 S26.A09 HGNC:14598 "ENST00000405709.7|NM_032549.4" +HGNC:6047 IMMT inner membrane mitochondrial protein protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "P87|P89|HMP|MINOS2|Mic60|MICOS60" "mitofilin|mitochondrial inner membrane organizing system 2|heart muscle protein|mitochondrial contact site and cristae organizing system subunit 60" inner membrane protein, mitochondrial (mitofilin) "Mitochondrial contact site and cristae organizing system subunits|MicroRNA protein coding host genes" "1616|1691" 2000-03-09 2016-01-11 2023-01-20 10989 ENSG00000132305 OTTHUMG00000153170 uc002sqz.4 D21094 NM_006839 "CCDS46355|CCDS46356|CCDS46357|CCDS92794" Q16891 "9168817|8039717" MGI:1923864 RGD:1310684 600378 470498 HGNC:6047 "ENST00000410111.8|NM_006839.3" HGNC:6048 IMMTP1 inner membrane mitochondrial protein pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 mitofilin IMMTP inner membrane protein, mitochondrial (mitofilin) pseudogene 2000-05-23 2010-04-14 2016-01-11 2016-01-11 54045 ENSG00000229880 OTTHUMG00000086935 NG_000919 PGOHUM00000263062 HGNC:6048 HGNC:14497 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "FLJ10968|BRMS2" "MRPS4|C15orf12" "mitochondrial ribosomal protein S4|chromosome 15 open reading frame 12|IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)" MPP10 subcomplex 1486 2001-01-26 2005-07-14 2019-01-22 2023-01-20 55272 ENSG00000177971 OTTHUMG00000142840 uc002bat.3 AB051628 NM_018285 CCDS10282 Q9NV31 "11543634|12655004" MGI:1916119 RGD:1306825 612980 HGNC:14497 "ENST00000403490.3|NM_018285.4" HGNC:49385 IMP3P1 IMP3 pseudogene 1 pseudogene pseudogene Approved 9p23 09p23 2013-10-22 2013-10-22 646087 ENSG00000230589 OTTHUMG00000019551 NG_021606 PGOHUM00000235962 HGNC:49385 HGNC:49386 IMP3P2 IMP3 pseudogene 2 pseudogene pseudogene Approved 7q32.1 07q32.1 2013-10-22 2013-10-22 106480272 ENSG00000239722 OTTHUMG00000158273 NG_044038 PGOHUM00000233563 HGNC:49386 HGNC:30856 IMP4 IMP U3 small nucleolar ribonucleoprotein 4 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "MGC19606|BXDC4" IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) MPP10 subcomplex 1486 2005-02-21 2019-01-22 2023-01-20 92856 ENSG00000136718 OTTHUMG00000131627 uc002tra.2 BC010042 NM_033416 CCDS2160 Q96G21 "8619474|9110174|12655004" MGI:106572 RGD:1308463 612981 HGNC:30856 "ENST00000259239.8|NM_033416.3" -HGNC:6050 IMPA1 inositol monophosphatase 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 myo-inositol monophosphatase 1 IMPA inositol(myo)-1(or 4)-monophosphatase 1 Phosphoinositide phosphatases 1079 1993-08-26 2016-04-05 2023-01-20 3612 ENSG00000133731 OTTHUMG00000164682 uc003ych.3 NM_005536 "CCDS47884|CCDS47883|CCDS6231" P29218 1377913 MGI:1933158 RGD:69254 602064 objectId:1463 3.1.3.25 HGNC:6050 "ENST00000256108.10|NM_005536.4" HGNC:6050 +HGNC:6050 IMPA1 inositol monophosphatase 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 myo-inositol monophosphatase 1 IMPA inositol(myo)-1(or 4)-monophosphatase 1 Phosphoinositide phosphatases 1079 1993-08-26 2016-04-05 2023-01-20 3612 ENSG00000133731 OTTHUMG00000164682 uc003ych.3 NM_005536 "CCDS6231|CCDS47883|CCDS47884" P29218 1377913 MGI:1933158 RGD:69254 602064 objectId:1463 3.1.3.25 HGNC:6050 "ENST00000256108.10|NM_005536.4" HGNC:6050 HGNC:33956 IMPA1P1 inositol monophosphatase 1 pseudogene 1 pseudogene pseudogene Approved 8q21.13 08q21.13 IMPA1P inositol(myo)-1(or 4)-monophosphatase 1 pseudogene 2008-01-28 2016-04-05 2016-04-05 2016-04-05 650747 ENSG00000251521 OTTHUMG00000164680 NR_146081 PGOHUM00000257193 HGNC:33956 HGNC:6051 IMPA2 inositol monophosphatase 2 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 myo-inositol monophosphatase 2 inositol(myo)-1(or 4)-monophosphatase 2 Phosphoinositide phosphatases 1079 1997-08-18 2016-04-05 2023-01-20 3613 ENSG00000141401 OTTHUMG00000131693 uc002kqp.3 AF014398 NM_014214 CCDS11855 O14732 9322233 MGI:2149728 RGD:628692 605922 objectId:1464 3.1.3.25 HGNC:6051 "ENST00000269159.8|NM_014214.3" HGNC:20387 IMPACT impact RWD domain protein protein-coding gene gene with protein product Approved 18q11.2 18q11.2 RWDD5 RWD domain containing 5 Impact homolog (mouse) 2006-01-24 2012-12-07 2023-01-20 55364 ENSG00000154059 OTTHUMG00000131943 uc002kvh.5 AB026264 NM_018439 CCDS11886 Q9P2X3 11116084 MGI:1098233 RGD:1591977 615319 HGNC:20387 "ENST00000284202.9|NM_018439.4" -HGNC:6052 IMPDH1 inosine monophosphate dehydrogenase 1 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "sWSS2608|LCA11" RP10 "retinitis pigmentosa 10 (autosomal dominant)|IMP (inosine 5'-monophosphate) dehydrogenase 1" 1992-12-08 2016-06-21 2023-01-20 3614 ENSG00000106348 OTTHUMG00000157713 uc011kon.2 NM_000883 "CCDS47699|CCDS47700|CCDS43643|CCDS55161|CCDS34748|CCDS34749" P20839 "1969416|11875049|11875050" MGI:96567 RGD:1311108 Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene|http://www.retina-international.org/files/sci-news/impdhmut.htm 146690 122649 objectId:2624 1.1.1.205 HGNC:6052 "ENST00000338791.11|NM_000883.4" HGNC:6052 +HGNC:6052 IMPDH1 inosine monophosphate dehydrogenase 1 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "sWSS2608|LCA11" RP10 "retinitis pigmentosa 10 (autosomal dominant)|IMP (inosine 5'-monophosphate) dehydrogenase 1" 1992-12-08 2016-06-21 2023-01-20 3614 ENSG00000106348 OTTHUMG00000157713 uc011kon.2 NM_000883 "CCDS34749|CCDS47700|CCDS43643|CCDS55161|CCDS34748|CCDS47699" P20839 "1969416|11875049|11875050" MGI:96567 RGD:1311108 Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene|http://www.retina-international.org/files/sci-news/impdhmut.htm 146690 122649 objectId:2624 1.1.1.205 HGNC:6052 "ENST00000338791.11|NM_000883.4" HGNC:6052 HGNC:19912 IMPDH1P1 inosine monophosphate dehydrogenase 1 pseudogene 1 pseudogene pseudogene Approved 9p13.3 09p13.3 bA537H15.4 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 1 2005-10-04 2016-06-27 2020-04-20 340499 AL354989 NG_005146 HGNC:19912 HGNC:33957 IMPDH1P2 inosine monophosphate dehydrogenase 1 pseudogene 2 pseudogene pseudogene Approved Xp11.4 Xp11.4 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 2 2008-01-28 2016-06-27 2020-04-06 402394 ENSG00000214045 OTTHUMG00000024101 NG_005150 PGOHUM00000304560 HGNC:33957 HGNC:33958 IMPDH1P3 inosine monophosphate dehydrogenase 1 pseudogene 3 pseudogene pseudogene Approved 7q33 07q33 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 3 2008-01-28 2016-06-27 2016-10-11 136307 ENSG00000214815 OTTHUMG00000155791 NG_005144 HGNC:33958 @@ -13270,8 +13271,8 @@ HGNC:33963 IMPDH1P8 inosine monophosphate dehydrogenase 1 pseudogene 8 pseudogen HGNC:33964 IMPDH1P9 inosine monophosphate dehydrogenase 1 pseudogene 9 pseudogene pseudogene Approved 6p22.3 06p22.3 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 9 2008-01-28 2016-06-27 2020-04-06 441132 ENSG00000218976 OTTHUMG00000014320 NG_005151 PGOHUM00000301261 HGNC:33964 HGNC:33965 IMPDH1P10 inosine monophosphate dehydrogenase 1 pseudogene 10 pseudogene pseudogene Approved 2q33.1 02q33.1 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 10 2008-01-28 2016-06-27 2016-06-27 100874399 ENSG00000232133 OTTHUMG00000154711 NG_032196 HGNC:33965 HGNC:6054 IMPDH1P11 inosine monophosphate dehydrogenase 1 pseudogene 11 pseudogene pseudogene Approved 16p13.2 16p13.2 IMPDHL1 "IMP (inosine monophosphate) dehydrogenase-like 1|IMP (inosine monophosphate) dehydrogenase 1 pseudogene 11" 1993-06-23 2008-01-28 2016-06-27 2016-10-11 727833 ENSG00000261647 OTTHUMG00000177089 L19709 XR_015181 7905856 HGNC:6054 -HGNC:6053 IMPDH2 inosine monophosphate dehydrogenase 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 IMP (inosine 5'-monophosphate) dehydrogenase 2 1992-12-08 2016-06-21 2023-01-20 3615 ENSG00000178035 OTTHUMG00000156771 uc003cvt.4 NM_000884 "CCDS93267|CCDS93268|CCDS93269|CCDS2786" P12268 "9858805|1969416" MGI:109367 RGD:735092 146691 objectId:2625 1.1.1.205 HGNC:6053 "ENST00000326739.9|NM_000884.3" -HGNC:6055 IMPG1 interphotoreceptor matrix proteoglycan 1 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "IPM150|GP147" SPACR sialoprotein associated with cones and rods 1997-08-28 2004-05-25 2023-01-20 3617 ENSG00000112706 OTTHUMG00000015063 uc032xbg.2 AF017776 NM_001563 "CCDS75483|CCDS4985" Q17R60 MGI:1926876 RGD:620499 602870 376545 HGNC:6055 "ENST00000369950.8|NM_001563.4" HGNC:6055 +HGNC:6053 IMPDH2 inosine monophosphate dehydrogenase 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 IMP (inosine 5'-monophosphate) dehydrogenase 2 1992-12-08 2016-06-21 2023-01-20 3615 ENSG00000178035 OTTHUMG00000156771 uc003cvt.4 NM_000884 "CCDS93267|CCDS2786|CCDS93268|CCDS93269" P12268 "9858805|1969416" MGI:109367 RGD:735092 146691 objectId:2625 1.1.1.205 HGNC:6053 "ENST00000326739.9|NM_000884.3" +HGNC:6055 IMPG1 interphotoreceptor matrix proteoglycan 1 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "IPM150|GP147" SPACR sialoprotein associated with cones and rods 1997-08-28 2004-05-25 2023-01-20 3617 ENSG00000112706 OTTHUMG00000015063 uc032xbg.2 AF017776 NM_001563 "CCDS4985|CCDS75483" Q17R60 MGI:1926876 RGD:620499 602870 376545 HGNC:6055 "ENST00000369950.8|NM_001563.4" HGNC:6055 HGNC:18362 IMPG2 interphotoreceptor matrix proteoglycan 2 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "IPM200|RP56|SPACRCAN" 2002-03-15 2023-01-20 50939 ENSG00000081148 OTTHUMG00000159091 uc003duq.3 AF173155 NM_016247 CCDS2940 Q9BZV3 10542133 MGI:3044955 RGD:708358 607056 239001 HGNC:18362 "ENST00000193391.8|NM_016247.4" HGNC:18362 HGNC:6057 INA internexin neuronal intermediate filament protein alpha protein-coding gene gene with protein product Approved 10q24.33 10q24.33 NF-66 NEF5 internexin neuronal intermediate filament protein, alpha Intermediate filaments Type IV 611 1999-03-24 2015-12-04 2023-01-20 9118 ENSG00000148798 OTTHUMG00000018986 uc001kws.3 S78296 NM_032727 CCDS7545 Q16352 7769995 MGI:96568 RGD:2911 605338 HGNC:6057 "ENST00000369849.9|NM_032727.4" HGNC:27406 INAFM1 InaF motif containing 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 PRR24 proline rich 24 2009-09-11 2014-08-01 2016-02-15 2023-01-20 255783 ENSG00000257704 OTTHUMG00000170128 BC022076 NM_178511 CCDS46131 C9JVW0 12477932 MGI:1913550 RGD:2301983 HGNC:27406 "ENST00000552360.4|NM_178511.6" @@ -13279,16 +13280,16 @@ HGNC:35165 INAFM2 InaF motif containing 2 protein-coding gene gene with protein HGNC:25599 INAVA innate immunity activator protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ10901 C1orf106 chromosome 1 open reading frame 106 2005-06-03 2017-04-21 2017-04-21 2023-03-15 55765 ENSG00000163362 OTTHUMG00000035789 uc010ppm.3 "AK001763|BC106877" NM_018265 CCDS44292 Q3KP66 "28436939|29420262" MGI:1921579 RGD:1311892 618051 HGNC:25599 "ENST00000413687.3|NM_001142569.3" HGNC:56475 INAVAP1 INAVA pseudogene 1 pseudogene pseudogene Approved 3q13.2 03q13.2 2022-10-20 2022-10-20 100420831 ENSG00000244144 NG_025610 PGOHUM00000299131 HGNC:32224 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 2009-04-20 2009-04-20 2023-01-20 388324 ENSG00000196388 OTTHUMG00000177768 uc002gam.3 "AY601906|AAT09152" NM_213726 "CCDS11064|CCDS54074" Q0VD86 "15159402|18756329" MGI:2144284 RGD:1306656 617374 HGNC:32224 "ENST00000695324.1|NM_001394789.1" -HGNC:6058 INCENP inner centromere protein protein-coding gene gene with protein product Approved 11q12.3 11q12.3 FLJ31633 "inner centromere protein antigens (135kD, 155kD)|inner centromere protein antigens 135/155kDa" Chromosomal passenger complex 1338 1988-06-09 2015-11-06 2023-01-20 3619 ENSG00000149503 OTTHUMG00000167470 uc001nsx.2 AF282265 NM_020238 "CCDS44624|CCDS31582" Q9NQS7 "1860899|11453556" MGI:1313288 RGD:1305292 604411 HGNC:6058 "ENST00000394818.8|NM_001040694.2" +HGNC:6058 INCENP inner centromere protein protein-coding gene gene with protein product Approved 11q12.3 11q12.3 FLJ31633 "inner centromere protein antigens (135kD, 155kD)|inner centromere protein antigens 135/155kDa" Chromosomal passenger complex 1338 1988-06-09 2015-11-06 2023-01-20 3619 ENSG00000149503 OTTHUMG00000167470 uc001nsx.2 AF282265 NM_020238 "CCDS31582|CCDS44624" Q9NQS7 "1860899|11453556" MGI:1313288 RGD:1305292 604411 HGNC:6058 "ENST00000394818.8|NM_001040694.2" HGNC:6060 INE1 inactivation escape 1 non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 NCRNA00010 non-protein coding RNA 10 inactivation escape 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 1999-07-07 2018-05-16 2020-04-02 8552 ENSG00000224975 OTTHUMG00000046428 uc004dhl.4 Y10696 NR_024616 O15225 9244435 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/INE1 300164 INE1 HGNC:6060 HGNC:6061 INE2 inactivation escape 2 non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 NCRNA00011 non-protein coding RNA 11 inactivation escape 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 1999-07-07 2018-05-16 2018-05-16 8551 ENSG00000281371 OTTHUMG00000189580 uc004cxf.1 Y10697 NR_002725 9244435 300165 INE2 HGNC:6061 HGNC:23791 INF2 inverted formin 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 MGC13251 "C14orf151|C14orf173" "chromosome 14 open reading frame 151|chromosome 14 open reading frame 173|inverted formin, FH2 and WH2 domain containing" "Armadillo like helical domain containing|Formins" "1492|2006" 2004-06-25 2007-11-29 2020-01-23 2023-01-20 64423 ENSG00000203485 OTTHUMG00000029811 uc001ypb.3 AK025709 NM_022489 "CCDS9989|CCDS41999|CCDS45173" Q27J81 16818491 MGI:1917685 RGD:1308350 610982 225380 HGNC:23791 "ENST00000392634.9|NM_022489.4" HGNC:23791 -HGNC:6062 ING1 inhibitor of growth family member 1 protein-coding gene gene with protein product Approved 13q34 13q34 "p33ING1|p33ING1b|p24ING1c|p33|p47|p47ING1a" "inhibitor of growth 1|tumor suppressor ING1|growth inhibitor ING1|growth inhibitory protein ING1" PHD finger proteins 88 1996-10-26 2015-11-09 2023-01-20 3621 ENSG00000153487 OTTHUMG00000017346 uc001vrh.5 NM_005537 "CCDS9515|CCDS9518|CCDS9517|CCDS9516" Q9UK53 "8944021|9186514" MGI:1349481 RGD:1306330 601566 122654 HGNC:6062 "ENST00000333219.9|NM_198219.3" HGNC:6062 +HGNC:6062 ING1 inhibitor of growth family member 1 protein-coding gene gene with protein product Approved 13q34 13q34 "p33ING1|p33ING1b|p24ING1c|p33|p47|p47ING1a" "inhibitor of growth 1|tumor suppressor ING1|growth inhibitor ING1|growth inhibitory protein ING1" PHD finger proteins 88 1996-10-26 2015-11-09 2023-01-20 3621 ENSG00000153487 OTTHUMG00000017346 uc001vrh.5 NM_005537 "CCDS9517|CCDS9515|CCDS9518|CCDS9516" Q9UK53 "8944021|9186514" MGI:1349481 RGD:1306330 601566 122654 HGNC:6062 "ENST00000333219.9|NM_198219.3" HGNC:6062 HGNC:6063 ING2 inhibitor of growth family member 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 p33ING2 ING1L inhibitor of growth family, member 1-like PHD finger proteins 88 1998-08-10 2005-02-11 2015-11-09 2023-01-20 3622 ENSG00000168556 OTTHUMG00000150502 uc003ivs.2 AB012853 NM_001564 CCDS3833 Q9H160 10072587 MGI:1916510 RGD:1307347 604215 HGNC:6063 "ENST00000302327.4|NM_001564.4" HGNC:55723 ING2-DT ING2 divergent transcript non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 Divergent transcripts 1990 2021-07-13 2021-07-13 389247 ENSG00000232648 NR_033995 -HGNC:14587 ING3 inhibitor of growth family member 3 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 "p47ING3|FLJ20089|Eaf4|MEAF4" "PHD finger proteins|Tip60/Nua4 histone acetyltransferase complex subunits" "88|1634" 2001-02-09 2015-11-09 2023-03-15 54556 ENSG00000071243 OTTHUMG00000141270 uc003vjn.4 AF074968 NM_019071 "CCDS35497|CCDS5778" Q9NXR8 12080476 MGI:1919027 RGD:1310556 607493 HGNC:14587 "ENST00000315870.10|NM_019071.3" -HGNC:19423 ING4 inhibitor of growth family member 4 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "p29ING4|my036" PHD finger proteins 88 2002-10-30 2015-11-09 2023-03-15 51147 ENSG00000111653 OTTHUMG00000141274 uc001qpv.5 AF063594 NM_198287 "CCDS44812|CCDS44813|CCDS44815|CCDS44816|CCDS44814|CCDS8555" Q9UNL4 12750254 MGI:107307 RGD:1309407 608524 HGNC:19423 "ENST00000341550.9|NM_016162.4" -HGNC:19421 ING5 inhibitor of growth family member 5 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ23842|p28ING5" PHD finger proteins 88 2002-10-30 2015-11-09 2023-01-20 84289 ENSG00000168395 OTTHUMG00000151501 uc002wcd.4 AF189286 NM_032329 "CCDS82586|CCDS33425|CCDS82585" Q8WYH8 12750254 MGI:1922816 RGD:1307908 608525 HGNC:19421 "ENST00000313552.11|NM_032329.6" +HGNC:14587 ING3 inhibitor of growth family member 3 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 "p47ING3|FLJ20089|Eaf4|MEAF4" "PHD finger proteins|Tip60/Nua4 histone acetyltransferase complex subunits" "88|1634" 2001-02-09 2015-11-09 2023-03-15 54556 ENSG00000071243 OTTHUMG00000141270 uc003vjn.4 AF074968 NM_019071 "CCDS5778|CCDS35497" Q9NXR8 12080476 MGI:1919027 RGD:1310556 607493 HGNC:14587 "ENST00000315870.10|NM_019071.3" +HGNC:19423 ING4 inhibitor of growth family member 4 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "p29ING4|my036" PHD finger proteins 88 2002-10-30 2015-11-09 2023-03-15 51147 ENSG00000111653 OTTHUMG00000141274 uc001qpv.5 AF063594 NM_198287 "CCDS44812|CCDS44816|CCDS44813|CCDS44814|CCDS44815|CCDS8555" Q9UNL4 12750254 MGI:107307 RGD:1309407 608524 HGNC:19423 "ENST00000341550.9|NM_016162.4" +HGNC:19421 ING5 inhibitor of growth family member 5 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ23842|p28ING5" PHD finger proteins 88 2002-10-30 2015-11-09 2023-01-20 84289 ENSG00000168395 OTTHUMG00000151501 uc002wcd.4 AF189286 NM_032329 "CCDS82586|CCDS82585|CCDS33425" Q8WYH8 12750254 MGI:1922816 RGD:1307908 608525 HGNC:19421 "ENST00000313552.11|NM_032329.6" HGNC:6064 INGX inhibitor of growth family, X-linked (pseudogene) pseudogene pseudogene Approved Xq13.1 Xq13.1 ING1-like ING2 inhibitor of growth family, member 2 2000-01-20 2005-02-11 2016-01-06 2023-03-15 27160 ENSG00000243468 OTTHUMG00000024051 AF149724 NR_002226 10626813 300452 PGOHUM00000241382 HGNC:6064 HGNC:6065 INHA inhibin subunit alpha protein-coding gene gene with protein product Approved 2q35 02q35 inhibin, alpha Inhibin subunits 1662 2001-06-22 2018-04-23 2023-01-20 3623 ENSG00000123999 OTTHUMG00000059237 uc002vmk.3 NM_002191 CCDS2444 P05111 3345731 MGI:96569 RGD:2912 147380 470500 ligandId:5005 HGNC:6065 "ENST00000243786.3|NM_002191.4" HGNC:6066 INHBA inhibin subunit beta A protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "inhibin, beta A (activin A, activin AB alpha polypeptide)|inhibin, beta A" Inhibin subunits 1662 1986-01-01 2018-04-23 2023-01-20 3624 ENSG00000122641 OTTHUMG00000023574 uc003thr.4 NM_002192 CCDS5464 P08476 3345731 MGI:96570 RGD:62074 147290 395930 ligandId:5006 HGNC:6066 "ENST00000242208.5|NM_002192.4" @@ -13297,39 +13298,39 @@ HGNC:6067 INHBB inhibin subunit beta B protein-coding gene gene with protein pro HGNC:6068 INHBC inhibin subunit beta C protein-coding gene gene with protein product Approved 12q13.3 12q13.3 inhibin, beta C Inhibin subunits 1662 1995-08-29 2018-04-23 2023-01-20 3626 ENSG00000175189 OTTHUMG00000169994 uc001snv.3 NM_005538 CCDS8938 P55103 7826378 MGI:105932 RGD:621194 601233 ligandId:5008 HGNC:6068 "ENST00000309668.3|NM_005538.4" HGNC:24029 INHBE inhibin subunit beta E protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "activin|MGC4638" inhibin, beta E Inhibin subunits 1662 2004-01-12 2018-04-23 2023-01-20 83729 ENSG00000139269 OTTHUMG00000169995 uc001snw.4 NM_031479 CCDS8939 P58166 12242034 MGI:109269 RGD:621196 612031 ligandId:5009 HGNC:24029 "ENST00000266646.3|NM_031479.5" HGNC:11759 INHCAP inhibitor of carbonic anhydrase pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 "TFP|TFP1" "transferrin pseudogene|transferrin pseudogene 1" Transferrins 908 2001-06-22 2018-12-06 2018-12-06 2018-12-06 100129696 ENSG00000242337 OTTHUMG00000159751 M22375 NG_008673 HGNC:11759 -HGNC:24994 INIP INTS3 and NABP interacting protein protein-coding gene gene with protein product Approved 9q32 09q32 "HSPC043|hSSBIP1|SOSS-C|MISE" "hSSB-interacting protein 1|sensor of single-strand DNA complex subunit C|minute INTS3/hSSB-associated element" C9orf80 chromosome 9 open reading frame 80 2004-01-29 2012-06-19 2012-06-19 2023-01-20 58493 ENSG00000148153 OTTHUMG00000020509 uc004bgg.4 AF161411 NM_021218 "CCDS6785|CCDS87676" Q9NRY2 11042152 MGI:1913459 RGD:1307983 613273 HGNC:24994 "ENST00000374242.9|NM_021218.3" +HGNC:24994 INIP INTS3 and NABP interacting protein protein-coding gene gene with protein product Approved 9q32 09q32 "HSPC043|hSSBIP1|SOSS-C|MISE" "hSSB-interacting protein 1|sensor of single-strand DNA complex subunit C|minute INTS3/hSSB-associated element" C9orf80 chromosome 9 open reading frame 80 2004-01-29 2012-06-19 2012-06-19 2023-01-20 58493 ENSG00000148153 OTTHUMG00000020509 uc004bgg.4 AF161411 NM_021218 "CCDS87676|CCDS6785" Q9NRY2 11042152 MGI:1913459 RGD:1307983 613273 HGNC:24994 "ENST00000374242.9|NM_021218.3" HGNC:32480 INKA1 inka box actin regulator 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Induced in Neural Crest by AP-2alpha "C3orf54|FAM212A" "chromosome 3 open reading frame 54|family with sequence similarity 212, member A|family with sequence similarity 212 member A" 2006-02-01 2018-04-20 2018-04-20 2023-01-20 389119 ENSG00000185614 OTTHUMG00000158268 uc003cxq.1 BC012170 NM_203370 CCDS2804 Q96EL1 "20175189|26607847" MGI:1915426 RGD:1560778 HGNC:32480 "ENST00000333323.6|NM_203370.2" HGNC:28045 INKA2 inka box actin regulator 2 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 FLJ31105 "C1orf183|FAM212B" "chromosome 1 open reading frame 183|family with sequence similarity 212, member B|family with sequence similarity 212 member B" 2005-08-02 2018-04-20 2018-04-20 2023-03-15 55924 ENSG00000197852 OTTHUMG00000011953 uc001ebo.2 AK055667 NM_019099 CCDS841 Q9NTI7 26292052 MGI:1923497 RGD:1306526 620403 HGNC:28045 "ENST00000357260.6|NM_019099.5" HGNC:49446 INKA2-AS1 INKA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 FAM212B-AS1 FAM212B antisense RNA 1 Antisense RNAs 1987 2013-12-03 2018-04-20 2018-04-20 2018-04-20 100506343 ENSG00000227811 OTTHUMG00000011954 NR_038951 FAM212B-AS1 HGNC:49446 -HGNC:6069 INMT indolethylamine N-methyltransferase protein-coding gene gene with protein product Approved 7p14.3 07p14.3 7BS small molecule methyltransferases 2063 1999-09-07 2023-01-20 11185 ENSG00000241644 OTTHUMG00000167163 uc003tbs.1 NM_006774 "CCDS56479|CCDS5430" O95050 10552930 MGI:102963 RGD:1597087 604854 2.1.1.49 HGNC:6069 "ENST00000013222.5|NM_006774.5" +HGNC:6069 INMT indolethylamine N-methyltransferase protein-coding gene gene with protein product Approved 7p14.3 07p14.3 7BS small molecule methyltransferases 2063 1999-09-07 2023-01-20 11185 ENSG00000241644 OTTHUMG00000167163 uc003tbs.1 NM_006774 "CCDS5430|CCDS56479" O95050 10552930 MGI:102963 RGD:1597087 604854 2.1.1.49 HGNC:6069 "ENST00000013222.5|NM_006774.5" HGNC:41995 INMT-MINDY4 INMT-MINDY4 readthrough (NMD candidate) other readthrough Approved 7p14.3 07p14.3 INMT-FAM188B INMT-FAM188B readthrough (NMD candidate) 2011-05-31 2017-01-31 2017-01-31 2017-01-31 100526825 ENSG00000254959 OTTHUMG00000022897 uc064con.1 NR_037598.1 HGNC:41995 HGNC:26956 INO80 INO80 complex ATPase subunit protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "KIAA1259|hINO80|INO80A" INO80 complex subunit A INOC1 "INO80 complex homolog 1 (S. cerevisiae)|INO80 homolog (S. cerevisiae)" "INO80 complex |DNA helicases" "595|1167" 2005-10-30 2008-08-07 2019-04-10 2023-01-20 54617 ENSG00000128908 OTTHUMG00000130209 uc001zni.5 AB033085 NM_017553 CCDS10071 Q9ULG1 "16298340|16230350|20237820" MGI:1915392 RGD:1310969 LRG_1233|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1233.xml 610169 470504 3.6.1.3 HGNC:26956 "ENST00000648947.1|NM_017553.3" HGNC:26956 HGNC:53138 INO80-AS1 INO80 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 ENST00000560178 Antisense RNAs 1987 2017-02-16 2017-02-16 109729177 ENSG00000259521 OTTHUMG00000172515 NR_170322 27816668 HGNC:13324 INO80B INO80 complex subunit B protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "HMGIYL4|PAPA-1|hIes2|PAP-1BP|IES2" "PAP-1 binding protein|IES2 homolog (S. cerevisiae)" "HMGA1L4|ZNHIT4" "high mobility group AT-hook 1-like 4|zinc finger, HIT type 4" "Zinc fingers HIT-type|INO80 complex " "83|595" 2003-11-26 2008-08-07 2008-08-07 2023-01-20 83444 ENSG00000115274 OTTHUMG00000129959 uc002slg.3 AB054538 NM_031288 CCDS1942 Q9C086 16230350 MGI:1917270 RGD:1562258 616456 HGNC:13324 "ENST00000233331.12|NM_031288.4" HGNC:49199 INO80B-WBP1 INO80B-WBP1 readthrough (NMD candidate) other readthrough Approved 2p13.1 02p13.1 2013-09-30 2013-09-30 2015-07-22 100532735 ENSG00000274049 OTTHUMG00000187278 NR_037849 HGNC:49199 -HGNC:26994 INO80C INO80 complex subunit C protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "FLJ38183|hIes6|IES6" IES6 homolog (S. cerevisiae) C18orf37 chromosome 18 open reading frame 37 INO80 complex 595 2004-06-02 2008-08-07 2008-08-07 2023-01-20 125476 ENSG00000153391 OTTHUMG00000132564 uc002kyy.5 NM_194281 "CCDS77177|CCDS45853|CCDS11914" Q6PI98 16230350 MGI:2443014 RGD:1310199 HGNC:26994 "ENST00000334598.12|NM_194281.4" +HGNC:26994 INO80C INO80 complex subunit C protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "FLJ38183|hIes6|IES6" IES6 homolog (S. cerevisiae) C18orf37 chromosome 18 open reading frame 37 INO80 complex 595 2004-06-02 2008-08-07 2008-08-07 2023-01-20 125476 ENSG00000153391 OTTHUMG00000132564 uc002kyy.5 NM_194281 "CCDS45853|CCDS11914|CCDS77177" Q6PI98 16230350 MGI:2443014 RGD:1310199 HGNC:26994 "ENST00000334598.12|NM_194281.4" HGNC:25997 INO80D INO80 complex subunit D protein-coding gene gene with protein product Approved 2q33.3 02q33.3 FLJ20309 INO80 complex 595 2008-08-07 2023-01-20 54891 ENSG00000114933 OTTHUMG00000154649 uc002vaz.4 NM_017759 CCDS46500 Q53TQ3 16230350 MGI:3027003 RGD:1304808 619207 HGNC:25997 "ENST00000403263.6|NM_017759.5" -HGNC:55803 INO80D-AS1 INO80D antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 AC007383.2 INO80D-AS2 INO80D antisense RNA 2 Antisense RNAs 1987 2021-07-29 2022-09-28 2022-09-28 2022-12-23 122152328 ENSG00000227946 MGI:3651861 +HGNC:55803 INO80D-AS1 INO80D antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 AC007383.2 INO80D-AS2 INO80D antisense RNA 2 Antisense RNAs 1987 2021-07-29 2022-09-28 2022-09-28 2022-12-23 122152328 ENSG00000227946 NR_186084 MGI:3651861 HGNC:26905 INO80E INO80 complex subunit E protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ90652 CCDC95 coiled-coil domain containing 95 INO80 complex 595 2006-03-24 2008-08-07 2008-08-07 2023-01-20 283899 ENSG00000169592 OTTHUMG00000132114 uc002dvg.2 AK075133 NM_173618 "CCDS76853|CCDS10665" Q8NBZ0 16230350 MGI:2141881 RGD:1359572 HGNC:26905 "ENST00000563197.6|NM_173618.3" HGNC:6071 INPP1 inositol polyphosphate-1-phosphatase protein-coding gene gene with protein product Approved 2q32.2 02q32.2 Phosphoinositide phosphatases 1079 1993-10-14 2023-01-20 3628 ENSG00000151689 OTTHUMG00000132672 uc002ury.5 NM_001128928 CCDS2305 P49441 8390685 MGI:104848 RGD:1306071 147263 objectId:1450 3.1.3.57 HGNC:6071 "ENST00000392329.7|NM_001128928.2" -HGNC:6074 INPP4A inositol polyphosphate-4-phosphatase type I A protein-coding gene gene with protein product Approved 2q11.2 02q11.2 Type I inositol 3,4-bisphosphate 4-phosphatase INPP4 "inositol polyphosphate-4-phosphatase, type I, 107kD|inositol polyphosphate-4-phosphatase, type I, 107kDa" C2 domain containing 823 1993-10-14 2015-08-13 2023-01-20 3631 ENSG00000040933 OTTHUMG00000153106 uc010yvk.3 U26398 NM_001566 "CCDS46370|CCDS46369|CCDS46371|CCDS46372" Q96PE3 "7608176|9295334|10702694" MGI:1931123 RGD:68386 600916 objectId:1451 3.1.3.66 HGNC:6074 "ENST00000409851.8|NM_001134225.2" +HGNC:6074 INPP4A inositol polyphosphate-4-phosphatase type I A protein-coding gene gene with protein product Approved 2q11.2 02q11.2 Type I inositol 3,4-bisphosphate 4-phosphatase INPP4 "inositol polyphosphate-4-phosphatase, type I, 107kD|inositol polyphosphate-4-phosphatase, type I, 107kDa" C2 domain containing 823 1993-10-14 2015-08-13 2023-01-20 3631 ENSG00000040933 OTTHUMG00000153106 uc010yvk.3 U26398 NM_001566 "CCDS46372|CCDS46369|CCDS46370|CCDS46371" Q96PE3 "7608176|9295334|10702694" MGI:1931123 RGD:68386 600916 objectId:1451 3.1.3.66 HGNC:6074 "ENST00000409851.8|NM_001134225.2" HGNC:6075 INPP4B inositol polyphosphate-4-phosphatase type II B protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "inositol polyphosphate-4-phosphatase, type II, 105kD|inositol polyphosphate-4-phosphatase, type II, 105kDa" "C2 domain containing|Phosphoinositide phosphatases" "823|1079" 1998-12-23 2015-08-13 2023-01-20 8821 ENSG00000109452 OTTHUMG00000161341 uc003iix.5 U96922 NM_003866 "CCDS3757|CCDS82958" O15327 9295334 MGI:2158925 RGD:620470 607494 objectId:1452 3.1.3.66 HGNC:6075 "ENST00000262992.9|NM_001101669.3" HGNC:6076 INPP5A inositol polyphosphate-5-phosphatase A protein-coding gene gene with protein product Approved 10q26.3 10q26.3 5PTASE "CTCL tumor antigen HD-CL-02|43 kDa inositol polyphosphate 5-phophatase|inositol polyphosphate 5-phophatase, 40kDa|InsP3 5-phosphatase|type I inositol-1,4,5-trisphosphate 5-phosphatase" "inositol polyphosphate-5-phosphatase, 40kD|inositol polyphosphate-5-phosphatase, 40kDa" Phosphoinositide phosphatases 1079 1993-10-14 2015-08-13 2023-01-20 3632 ENSG00000068383 OTTHUMG00000019293 uc001llp.4 X77567 NM_005539 CCDS7669 Q14642 8013665 MGI:2686961 RGD:1306168 600106 objectId:1453 3.1.3.56 HGNC:6076 "ENST00000368594.8|NM_005539.5" -HGNC:6077 INPP5B inositol polyphosphate-5-phosphatase B protein-coding gene gene with protein product Approved 1p34.3 01p34.3 type II inositol 1,4,5-trisphosphate 5-phosphatase "inositol polyphosphate-5-phosphatase, 75kD|inositol polyphosphate-5-phosphatase, 75kDa" Phosphoinositide phosphatases 1079 1993-10-14 2015-08-13 2023-01-20 3633 ENSG00000204084 OTTHUMG00000004436 uc001ccg.2 M74161 NM_005540 "CCDS72760|CCDS41306" P32019 1718960 MGI:103257 RGD:1311511 147264 objectId:1454 3.1.3.56 HGNC:6077 "ENST00000373024.8|NM_005540.3" +HGNC:6077 INPP5B inositol polyphosphate-5-phosphatase B protein-coding gene gene with protein product Approved 1p34.3 01p34.3 type II inositol 1,4,5-trisphosphate 5-phosphatase "inositol polyphosphate-5-phosphatase, 75kD|inositol polyphosphate-5-phosphatase, 75kDa" Phosphoinositide phosphatases 1079 1993-10-14 2015-08-13 2023-01-20 3633 ENSG00000204084 OTTHUMG00000004436 uc001ccg.2 M74161 NM_005540 "CCDS41306|CCDS72760" P32019 1718960 MGI:103257 RGD:1311511 147264 objectId:1454 3.1.3.56 HGNC:6077 "ENST00000373024.8|NM_005540.3" HGNC:40304 INPP5B-AS1 INPP5B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 AL929472.2 Antisense RNAs 1987 2023-01-13 2023-01-13 128266844 ENSG00000230955 OTTHUMG00000037489 33509158 HGNC:6079 INPP5D inositol polyphosphate-5-phosphatase D protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "SHIP|hp51CN|SHIP1" SH2 domain-containing inositol 5'-phosphatase 1 "inositol polyphosphate-5-phosphatase, 145kD|inositol polyphosphate-5-phosphatase, 145kDa" "SH2 domain containing|Phosphoinositide phosphatases" "741|1079" 1996-04-04 2015-08-13 2023-01-20 3635 ENSG00000168918 OTTHUMG00000133688 uc032ovq.2 U57650 NM_001017915 "CCDS74672|CCDS77543" Q92835 "8643691|8874179" MGI:107357 RGD:2914 601582 objectId:1455 3.1.3.86 HGNC:6079 "ENST00000445964.6|NM_001017915.3" HGNC:21474 INPP5E inositol polyphosphate-5-phosphatase E protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "PPI5PIV|CORS1|pharbin" Phosphatidylinositol polyphosphate 5-phosphatase type IV JBTS1 "Joubert syndrome 1|inositol polyphosphate-5-phosphatase, 72 kDa" Phosphoinositide phosphatases 1079 2003-06-13 2015-08-13 2023-01-20 56623 ENSG00000148384 OTTHUMG00000020927 uc004cho.4 AF187891 NM_019892 CCDS7000 Q9NRR6 "10764818|10577920|19668216" MGI:1927753 RGD:620478 613037 208347 objectId:1456 3.1.3.36 HGNC:21474 "ENST00000371712.4|NM_019892.6" HGNC:21474 -HGNC:17054 INPP5F inositol polyphosphate-5-phosphatase F protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "SAC2|KIAA0966|hSac2" "Phosphatidylinositide phosphatase SAC2|Sac domain-containing inositol phosphatase 2|Sac domain-containing phosphoinositide 4-phosphatase 2" Phosphoinositide phosphatases 1079 2003-06-10 2023-01-20 22876 ENSG00000198825 OTTHUMG00000019158 uc001leo.4 AB023183 NM_014937 "CCDS58098|CCDS81513|CCDS7616" Q9Y2H2 "11274189|25869669|25869668" MGI:2141867 RGD:1305777 LRG_1061|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1061.xml 609389 3.1.3.25 HGNC:17054 "ENST00000650623.2|NM_014937.4" -HGNC:8956 INPP5J inositol polyphosphate-5-phosphatase J protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "INPP5|PIPP" PIB5PA phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A Phosphoinositide phosphatases 1079 2000-01-12 2008-09-09 2008-09-09 2023-01-20 27124 ENSG00000185133 OTTHUMG00000151206 uc003ajt.5 U45975 NM_001002837 "CCDS63453|CCDS46687|CCDS63455|CCDS74847|CCDS63454" Q15735 10591208 MGI:2158663 RGD:620541 606481 objectId:1457 3.1.3.56 HGNC:8956 "ENST00000331075.10|NM_001284285.2" -HGNC:33882 INPP5K inositol polyphosphate-5-phosphatase K protein-coding gene gene with protein product Approved 17p13.3 17p13.3 SKIP skeletal muscle and kidney enriched inositol phosphatase Phosphoinositide phosphatases 1079 2008-09-09 2023-01-20 51763 ENSG00000132376 OTTHUMG00000150648 uc002fsr.4 NM_016532 "CCDS11005|CCDS11004" Q9BT40 "10753883|12536145" MGI:1194899 RGD:1359130 607875 objectId:1458 3.1.3.56 HGNC:33882 "ENST00000421807.7|NM_016532.4" HGNC:33882 +HGNC:17054 INPP5F inositol polyphosphate-5-phosphatase F protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "SAC2|KIAA0966|hSac2" "Phosphatidylinositide phosphatase SAC2|Sac domain-containing inositol phosphatase 2|Sac domain-containing phosphoinositide 4-phosphatase 2" Phosphoinositide phosphatases 1079 2003-06-10 2023-01-20 22876 ENSG00000198825 OTTHUMG00000019158 uc001leo.4 AB023183 NM_014937 "CCDS81513|CCDS58098|CCDS7616" Q9Y2H2 "11274189|25869669|25869668" MGI:2141867 RGD:1305777 LRG_1061|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1061.xml 609389 3.1.3.25 HGNC:17054 "ENST00000650623.2|NM_014937.4" +HGNC:8956 INPP5J inositol polyphosphate-5-phosphatase J protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "INPP5|PIPP" PIB5PA phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A Phosphoinositide phosphatases 1079 2000-01-12 2008-09-09 2008-09-09 2023-01-20 27124 ENSG00000185133 OTTHUMG00000151206 uc003ajt.5 U45975 NM_001002837 "CCDS63455|CCDS63453|CCDS46687|CCDS63454|CCDS74847" Q15735 10591208 MGI:2158663 RGD:620541 606481 objectId:1457 3.1.3.56 HGNC:8956 "ENST00000331075.10|NM_001284285.2" +HGNC:33882 INPP5K inositol polyphosphate-5-phosphatase K protein-coding gene gene with protein product Approved 17p13.3 17p13.3 SKIP skeletal muscle and kidney enriched inositol phosphatase Phosphoinositide phosphatases 1079 2008-09-09 2023-01-20 51763 ENSG00000132376 OTTHUMG00000150648 uc002fsr.4 NM_016532 "CCDS11004|CCDS11005" Q9BT40 "10753883|12536145" MGI:1194899 RGD:1359130 607875 objectId:1458 3.1.3.56 HGNC:33882 "ENST00000421807.7|NM_016532.4" HGNC:33882 HGNC:6080 INPPL1 inositol polyphosphate phosphatase like 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 SHIP2 "51C protein|SH2 domain-containing inositol 5'-phosphatase 2|phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2" "SH2 domain containing|Sterile alpha motif domain containing|Phosphoinositide phosphatases" "741|760|1079" 1995-05-12 2015-11-23 2023-01-20 3636 ENSG00000165458 OTTHUMG00000167879 uc001osf.4 Y14385 NM_001567 CCDS8213 O15357 8530088 MGI:1333787 RGD:68396 600829 323427 objectId:1459 3.1.3.86 HGNC:6080 "ENST00000298229.7|NM_001567.4" HGNC:6080 HGNC:6081 INS insulin protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "IDDM2|IDDM1" insulin-dependent diabetes mellitus 2 Neuropeptides 1902 2001-06-22 2023-01-20 3630 ENSG00000254647 OTTHUMG00000009558 uc001lvo.2 X70508 NM_000207 CCDS7729 P01308 "6243748|7773291" MGI:96573 RGD:2916 176730 168345 ligandId:6145 HGNC:6081 "ENST00000381330.5|NM_000207.3" HGNC:6081 HGNC:33527 INS-IGF2 INS-IGF2 readthrough other readthrough Approved 11p15.5 11p15.5 2011-03-23 2023-03-15 723961 ENSG00000129965 OTTHUMG00000166213 uc001lvm.4 DQ104205 NM_001042376.2 F8WCM5 16531418 RGD:2915 HGNC:33527 -HGNC:33116 INSC INSC spindle orientation adaptor protein protein-coding gene gene with protein product Approved 11p15.2 11p15.2 inscuteable spindle orientation adaptor protein inscuteable homolog (Drosophila) Armadillo like helical domain containing 1492 2006-08-17 2019-01-21 2023-01-20 387755 ENSG00000188487 OTTHUMG00000165838 uc001mly.5 AB231744 NM_001031853 "CCDS41621|CCDS41622|CCDS60736|CCDS60735" Q1MX18 16458856 MGI:1917942 RGD:1311379 610668 HGNC:33116 "ENST00000379556.8|NM_001042536.3" -HGNC:6083 INSIG1 insulin induced gene 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "CL-6|MGC1405" INSIG-1 membrane protein 1997-05-15 2023-03-15 3638 ENSG00000186480 OTTHUMG00000151330 uc003wly.3 NM_198336 "CCDS5939|CCDS5938|CCDS94240" O15503 9268630 MGI:1916289 RGD:708457 602055 HGNC:6083 "ENST00000340368.9|NM_005542.6" +HGNC:33116 INSC INSC spindle orientation adaptor protein protein-coding gene gene with protein product Approved 11p15.2 11p15.2 inscuteable spindle orientation adaptor protein inscuteable homolog (Drosophila) Armadillo like helical domain containing 1492 2006-08-17 2019-01-21 2023-01-20 387755 ENSG00000188487 OTTHUMG00000165838 uc001mly.5 AB231744 NM_001031853 "CCDS60736|CCDS41621|CCDS41622|CCDS60735" Q1MX18 16458856 MGI:1917942 RGD:1311379 610668 HGNC:33116 "ENST00000379556.8|NM_001042536.3" +HGNC:6083 INSIG1 insulin induced gene 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "CL-6|MGC1405" INSIG-1 membrane protein 1997-05-15 2023-03-15 3638 ENSG00000186480 OTTHUMG00000151330 uc003wly.3 NM_198336 "CCDS5939|CCDS94240|CCDS5938" O15503 9268630 MGI:1916289 RGD:708457 602055 HGNC:6083 "ENST00000340368.9|NM_005542.6" HGNC:55155 INSIG1-DT INSIG1 divergent transcript non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Divergent transcripts 1990 2020-07-15 2020-07-15 105375591 ENSG00000273117 NR_183446 HGNC:20452 INSIG2 insulin induced gene 2 protein-coding gene gene with protein product Approved 2q14.1-q14.2 02q14.1-q14.2 2003-02-17 2023-01-20 51141 ENSG00000125629 OTTHUMG00000058518 uc002tlk.4 AF527632 NM_016133 CCDS2122 Q9Y5U4 12242332 MGI:1920249 RGD:631417 608660 HGNC:20452 "ENST00000245787.9|NM_016133.4" -HGNC:6086 INSL3 insulin like 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "RLF|MGC119818|MGC119819" prepro-INSL3 RLNL "relaxin-like factor|insulin-like 3 (Leydig cell)" Receptor ligands 542 1993-11-02 2015-11-23 2023-01-20 3640 ENSG00000248099 OTTHUMG00000183481 uc002nhm.3 NM_005543 "CCDS58655|CCDS12365" P51460 8020942 MGI:108427 RGD:620117 146738 ligandId:3749 HGNC:6086 "ENST00000317306.8|NM_005543.4" HGNC:6086 +HGNC:6086 INSL3 insulin like 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "RLF|MGC119818|MGC119819" prepro-INSL3 RLNL "relaxin-like factor|insulin-like 3 (Leydig cell)" Receptor ligands 542 1993-11-02 2015-11-23 2023-01-20 3640 ENSG00000248099 OTTHUMG00000183481 uc002nhm.3 NM_005543 "CCDS12365|CCDS58655" P51460 8020942 MGI:108427 RGD:620117 146738 ligandId:3749 HGNC:6086 "ENST00000317306.8|NM_005543.4" HGNC:6086 HGNC:6087 INSL4 insulin like 4 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 EPIL insulin-like 4 (placenta) 1995-07-14 2015-11-23 2023-01-20 3641 ENSG00000120211 OTTHUMG00000019494 uc003ziy.4 NM_002195 CCDS6459 Q14641 "8666396|9730618" 600910 HGNC:6087 "ENST00000239316.4|NM_002195.2" HGNC:6088 INSL5 insulin like 5 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 prepro-INSL5 insulin-like 5 Receptor ligands 542 1999-01-08 2015-11-23 2023-01-20 10022 ENSG00000172410 OTTHUMG00000009164 uc001dcw.4 AF133816 NM_005478 CCDS634 Q9Y5Q6 10458910 MGI:1346085 RGD:7747960 606413 ligandId:3751 HGNC:6088 "ENST00000304526.3|NM_005478.6" HGNC:6089 INSL6 insulin like 6 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 RIF1 relaxin/insulin-like factor 1 insulin-like 6 1999-09-09 2015-11-23 2023-01-20 11172 ENSG00000120210 OTTHUMG00000019489 uc003zix.4 AF156094 NM_007179 CCDS6458 Q9Y581 10819760 MGI:1351595 RGD:62061 606414 HGNC:6089 "ENST00000381641.4|NM_007179.3" @@ -13342,31 +13343,31 @@ HGNC:51422 INSYN1-AS1 INSYN1 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:33859 INSYN2A inhibitory synaptic factor 2A protein-coding gene gene with protein product Approved 10q26.2 10q26.2 FLJ45557 inhibitory synaptic protein 2 "C10orf141|FAM196A|INSYN2" "chromosome 10 open reading frame 141|family with sequence similarity 196, member A|family with sequence similarity 196 member A" 2007-12-14 2019-02-11 2018-05-25 2023-01-20 642938 ENSG00000188916 OTTHUMG00000019248 uc001ljv.2 NM_001039762 CCDS31312 Q6ZSG2 27609886 MGI:3605068 RGD:2302685 617129 HGNC:33859 "ENST00000522781.6|NM_001039762.3" HGNC:37271 INSYN2B inhibitory synaptic factor family member 2B protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "C5orf57|FAM196B" "chromosome 5 open reading frame 57|family with sequence similarity 196, member B|family with sequence similarity 196 member B" 2009-09-09 2018-05-25 2018-05-25 2023-01-20 100131897 ENSG00000204767 OTTHUMG00000163083 uc003mag.3 NM_001129891 CCDS47336 A6NMK8 MGI:3643491 RGD:2320105 HGNC:37271 "ENST00000377365.4|NM_001129891.3" HGNC:24555 INTS1 integrator complex subunit 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "DKFZp586J0619|KIAA1440|INT1|NET28" "Integrator complex|Armadillo like helical domain containing" "1366|1492" 2006-03-15 2023-01-20 26173 ENSG00000164880 OTTHUMG00000151449 uc003skn.3 AB037861 NM_001080453 CCDS47526 Q8N201 16239144 MGI:1915760 RGD:1308908 611345 HGNC:24555 "ENST00000404767.8|NM_001080453.3" HGNC:24555 -HGNC:29241 INTS2 integrator complex subunit 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 INT2 KIAA1287 KIAA1287 Integrator complex 1366 2005-07-26 2006-03-15 2006-03-15 2023-01-20 57508 ENSG00000108506 OTTHUMG00000179234 uc002izm.4 AB033113 NM_020748 "CCDS82181|CCDS45750" Q9H0H0 16239144 MGI:1917672 RGD:1305547 611346 HGNC:29241 "ENST00000251334.7|NM_001351695.2" +HGNC:29241 INTS2 integrator complex subunit 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 INT2 KIAA1287 KIAA1287 Integrator complex 1366 2005-07-26 2006-03-15 2006-03-15 2023-01-20 57508 ENSG00000108506 OTTHUMG00000179234 uc002izm.4 AB033113 NM_020748 "CCDS45750|CCDS82181" Q9H0H0 16239144 MGI:1917672 RGD:1305547 611346 HGNC:29241 "ENST00000251334.7|NM_001351695.2" HGNC:26153 INTS3 integrator complex subunit 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "FLJ21919|INT3|SOSS-A" sensor of single-strand DNA complex subunit A C1orf60 chromosome 1 open reading frame 60 Integrator complex 1366 2005-05-13 2006-03-15 2006-03-15 2023-01-20 65123 ENSG00000143624 OTTHUMG00000037089 uc001fct.4 BX640950 NM_023015 CCDS1052 Q68E01 16239144 MGI:2140050 RGD:1304593 611347 HGNC:26153 "ENST00000318967.7|NM_023015.5" HGNC:25048 INTS4 integrator complex subunit 4 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "INT4|MGC16733|MST093" "Integrator complex|Armadillo like helical domain containing" "1366|1492" 2006-03-15 2023-01-20 92105 ENSG00000149262 OTTHUMG00000166629 uc001oys.4 BC015664 NM_033547 CCDS31644 Q96HW7 16239144 MGI:1917164 RGD:1305036 611348 HGNC:25048 "ENST00000534064.6|NM_033547.4" HGNC:21925 INTS4P1 integrator complex subunit 4 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 FLJ25037 INTS4L1 integrator complex subunit 4-like 1 2008-10-21 2014-10-01 2014-10-01 2014-10-01 285905 ENSG00000164669 OTTHUMG00000156510 XR_041315 PGOHUM00000302754 HGNC:21925 HGNC:22351 INTS4P2 integrator complex subunit 4 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 MGC133166 INTS4L2 integrator complex subunit 4-like 2 2008-10-21 2014-10-01 2014-10-01 2015-02-02 644619 ENSG00000273024 OTTHUMG00000156558 BC111554 NR_027392 PGOHUM00000302764 HGNC:22351 HGNC:29352 INTS5 integrator complex subunit 5 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 INT5 KIAA1698 KIAA1698 "Integrator complex|Armadillo like helical domain containing" "1366|1492" 2005-10-28 2006-03-15 2006-03-15 2023-01-20 80789 ENSG00000185085 OTTHUMG00000167605 uc001nud.3 AK123587 NM_030628 CCDS8027 Q6P9B9 16239144 MGI:1923578 RGD:1309370 611349 HGNC:29352 "ENST00000330574.2|NM_030628.2" -HGNC:14879 INTS6 integrator complex subunit 6 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "DICE1|HDB|Notchl2|DBI-1|DDX26A|INT6" DDX26 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26 Integrator complex 1366 2001-03-30 2006-03-15 2006-03-15 2023-01-20 26512 ENSG00000102786 OTTHUMG00000016945 uc001vfk.4 AF097645 NM_012141 "CCDS9428|CCDS41890|CCDS45048|CCDS76636" Q9UL03 "10467397|16239144" MGI:1202397 RGD:1309480 604331 470506 HGNC:14879 "ENST00000311234.9|NM_012141.3" +HGNC:14879 INTS6 integrator complex subunit 6 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "DICE1|HDB|Notchl2|DBI-1|DDX26A|INT6" DDX26 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26 Integrator complex 1366 2001-03-30 2006-03-15 2006-03-15 2023-01-20 26512 ENSG00000102786 OTTHUMG00000016945 uc001vfk.4 AF097645 NM_012141 "CCDS76636|CCDS9428|CCDS41890|CCDS45048" Q9UL03 "10467397|16239144" MGI:1202397 RGD:1309480 604331 470506 HGNC:14879 "ENST00000311234.9|NM_012141.3" HGNC:42691 INTS6-AS1 INTS6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 INTS6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-30 2012-08-15 2014-11-19 100507398 ENSG00000236778 OTTHUMG00000016944 uc058xef.1 AA397528 NR_103812 INTS6-AS1 HGNC:42691 -HGNC:27334 INTS6L integrator complex subunit 6 like protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 FLJ41215 DDX26B DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B Integrator complex 1366 2004-08-10 2016-01-07 2016-01-07 2023-01-20 203522 ENSG00000165359 OTTHUMG00000022484 uc004eyw.5 AK096544 NM_182540 "CCDS87784|CCDS35401" Q5JSJ4 MGI:2442593 RGD:1592872 HGNC:27334 "ENST00000639893.2|NM_001351601.3" +HGNC:27334 INTS6L integrator complex subunit 6 like protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 FLJ41215 DDX26B DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B Integrator complex 1366 2004-08-10 2016-01-07 2016-01-07 2023-01-20 203522 ENSG00000165359 OTTHUMG00000022484 uc004eyw.5 AK096544 NM_182540 "CCDS35401|CCDS87784" Q5JSJ4 MGI:2442593 RGD:1592872 HGNC:27334 "ENST00000639893.2|NM_001351601.3" HGNC:41180 INTS6L-AS1 INTS6L antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 DDX26B-AS1 "DDX26B antisense RNA 1 (non-protein coding)|DDX26B antisense RNA 1" Antisense RNAs 1987 2011-08-10 2016-01-07 2016-01-07 2021-08-16 100874118 ENSG00000225235 OTTHUMG00000022483 uc033ewb.1 NR_046740 INTS6L-AS1 HGNC:41180 HGNC:43921 INTS6P1 integrator complex subunit 6 pseudogene 1 pseudogene pseudogene Approved 5p13.1 05p13.1 2012-05-04 2012-05-04 285634 ENSG00000250492 OTTHUMG00000162069 NG_021845 PGOHUM00000235198 HGNC:43921 -HGNC:24484 INTS7 integrator complex subunit 7 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "DKFZP434B168|INT7" C1orf73 chromosome 1 open reading frame 73 "Integrator complex|Armadillo like helical domain containing" "1366|1492" 2005-05-19 2006-03-15 2006-03-15 2023-01-20 25896 ENSG00000143493 OTTHUMG00000037119 uc001hiw.3 AK022509 NM_015434 "CCDS55685|CCDS1501|CCDS55683|CCDS55684" Q9NVH2 16239144 MGI:1924315 RGD:1308014 611350 HGNC:24484 "ENST00000366994.8|NM_015434.4" +HGNC:24484 INTS7 integrator complex subunit 7 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "DKFZP434B168|INT7" C1orf73 chromosome 1 open reading frame 73 "Integrator complex|Armadillo like helical domain containing" "1366|1492" 2005-05-19 2006-03-15 2006-03-15 2023-01-20 25896 ENSG00000143493 OTTHUMG00000037119 uc001hiw.3 AK022509 NM_015434 "CCDS55683|CCDS55685|CCDS55684|CCDS1501" Q9NVH2 16239144 MGI:1924315 RGD:1308014 611350 HGNC:24484 "ENST00000366994.8|NM_015434.4" HGNC:26048 INTS8 integrator complex subunit 8 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "FLJ20530|INT8|MGC131633" C8orf52 chromosome 8 open reading frame 52 Integrator complex 1366 2005-08-30 2006-03-15 2006-03-15 2023-01-20 55656 ENSG00000164941 OTTHUMG00000164695 uc003yhb.5 AK091278 NM_017864 CCDS34925 Q75QN2 16239144 MGI:1919906 RGD:1310592 611351 HGNC:26048 "ENST00000523731.6|NM_017864.4" HGNC:26048 -HGNC:25592 INTS9 integrator complex subunit 9 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "FLJ10871|CPSF2L|RC-74" "Integrator complex|MBL fold containing DNA/RNA interacting subfamily" "1366|1615" 2007-07-31 2023-01-20 55756 ENSG00000104299 OTTHUMG00000164030 uc003xha.4 BC025267 NM_018250 "CCDS34873|CCDS55216|CCDS55215" Q9NV88 16239144 MGI:1098533 RGD:1311539 611352 HGNC:25592 "ENST00000521022.6|NM_018250.4" +HGNC:25592 INTS9 integrator complex subunit 9 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "FLJ10871|CPSF2L|RC-74" "Integrator complex|MBL fold containing DNA/RNA interacting subfamily" "1366|1615" 2007-07-31 2023-01-20 55756 ENSG00000104299 OTTHUMG00000164030 uc003xha.4 BC025267 NM_018250 "CCDS55215|CCDS55216|CCDS34873" Q9NV88 16239144 MGI:1098533 RGD:1311539 611352 HGNC:25592 "ENST00000521022.6|NM_018250.4" HGNC:53139 INTS9-AS1 INTS9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p21.1 08p21.1 ENST00000520055 Antisense RNAs 1987 2017-02-16 2017-02-16 109729178 ENSG00000254034 OTTHUMG00000164031 27816668 HGNC:25548 INTS10 integrator complex subunit 10 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "FLJ10569|INT10" C8orf35 chromosome 8 open reading frame 35 Integrator complex 1366 2005-07-22 2006-03-15 2006-03-15 2023-01-20 55174 ENSG00000104613 OTTHUMG00000131065 uc003wzj.4 AK001431 NM_018142 CCDS6011 Q9NVR2 16239144 MGI:1918135 RGD:1304711 611353 HGNC:25548 "ENST00000397977.8|NM_018142.4" -HGNC:26052 INTS11 integrator complex subunit 11 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "FLJ20542|RC-68|CPSF73L|INT11" CPSF3L cleavage and polyadenylation specific factor 3-like "Integrator complex|MBL fold containing DNA/RNA interacting subfamily|MicroRNA protein coding host genes" "1366|1615|1691" 2005-05-19 2016-12-15 2016-12-15 2023-01-20 54973 ENSG00000127054 OTTHUMG00000003330 uc001aee.3 AL136813 NM_017871 "CCDS72678|CCDS21|CCDS57961|CCDS57959|CCDS57960" Q5TA45 "15684398|16239144" MGI:1919207 RGD:1306841 611354 HGNC:26052 "ENST00000435064.6|NM_017871.6" +HGNC:26052 INTS11 integrator complex subunit 11 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "FLJ20542|RC-68|CPSF73L|INT11" CPSF3L cleavage and polyadenylation specific factor 3-like "Integrator complex|MBL fold containing DNA/RNA interacting subfamily|MicroRNA protein coding host genes" "1366|1615|1691" 2005-05-19 2016-12-15 2016-12-15 2023-01-20 54973 ENSG00000127054 OTTHUMG00000003330 uc001aee.3 AL136813 NM_017871 "CCDS72678|CCDS57960|CCDS57961|CCDS21|CCDS57959" Q5TA45 "15684398|16239144" MGI:1919207 RGD:1306841 611354 HGNC:26052 "ENST00000435064.6|NM_017871.6" HGNC:25067 INTS12 integrator complex subunit 12 protein-coding gene gene with protein product Approved 4q24 04q24 "SBBI22|INT12" hypothetical nuclear factor SBBI22 PHF22 PHD finger protein 22 "PHD finger proteins|Integrator complex" "88|1366" 2005-05-05 2006-03-15 2006-03-15 2023-01-20 57117 ENSG00000138785 OTTHUMG00000131215 uc010ilr.4 NM_020395 CCDS3671 Q96CB8 16239144 MGI:1919043 RGD:1359136 611355 HGNC:25067 "ENST00000340139.10|NM_020395.4" HGNC:20174 INTS13 integrator complex subunit 13 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 "FLJ10637|NET48|Mat89Bb|SPATA30" "spermatogenesis associated 30|integrator complex subunit 13" "C12orf11|ASUN" "chromosome 12 open reading frame 11|asunder, spermatogenesis regulator homolog (Drosphila)" Integrator complex 1366 2004-12-07 2016-12-15 2016-12-15 2023-01-20 55726 ENSG00000064102 OTTHUMG00000169193 uc001rhk.5 AK001222 NM_018164 CCDS8708 Q9NVM9 "12414650|19357193|23097494" MGI:1918427 RGD:1592236 615079 HGNC:20174 "ENST00000261191.12|NM_018164.3" -HGNC:25372 INTS14 integrator complex subunit 14 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 DKFZP564O1664 "C15orf44|VWA9" "chromosome 15 open reading frame 44|von Willebrand factor A domain containing 9" Integrator complex 1366 2005-10-25 2016-12-15 2016-12-15 2023-01-20 81556 ENSG00000138614 OTTHUMG00000133159 uc002ape.5 AL136662 NM_030800 "CCDS92022|CCDS10211|CCDS92021|CCDS92020|CCDS45283" Q96SY0 11230166 MGI:1917132 RGD:1359616 HGNC:25372 "ENST00000313182.7|NM_001394796.1" -HGNC:21702 INTS15 integrator complex subunit 15 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 MGC2718 C7orf26 chromosome 7 open reading frame 26 2003-07-14 2022-01-07 2022-01-07 2023-01-20 79034 ENSG00000146576 OTTHUMG00000125517 uc003sqo.2 BC005121 NM_024067 "CCDS5353|CCDS78206" Q96N11 33973408 MGI:2442621 RGD:1584479 HGNC:21702 "ENST00000344417.10|NM_024067.4" +HGNC:25372 INTS14 integrator complex subunit 14 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 DKFZP564O1664 "C15orf44|VWA9" "chromosome 15 open reading frame 44|von Willebrand factor A domain containing 9" Integrator complex 1366 2005-10-25 2016-12-15 2016-12-15 2023-01-20 81556 ENSG00000138614 OTTHUMG00000133159 uc002ape.5 AL136662 NM_030800 "CCDS10211|CCDS92021|CCDS45283|CCDS92020|CCDS92022" Q96SY0 11230166 MGI:1917132 RGD:1359616 HGNC:25372 "ENST00000313182.7|NM_001394796.1" +HGNC:21702 INTS15 integrator complex subunit 15 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 MGC2718 C7orf26 chromosome 7 open reading frame 26 Integrator complex 1366 2003-07-14 2022-01-07 2022-01-07 2023-01-20 79034 ENSG00000146576 OTTHUMG00000125517 uc003sqo.2 BC005121 NM_024067 "CCDS5353|CCDS78206" Q96N11 33973408 MGI:2442621 RGD:1584479 HGNC:21702 "ENST00000344417.10|NM_024067.4" HGNC:29239 INTU inturned planar cell polarity protein protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "KIAA1284|CPLANE4" ciliogenesis and planar polarity effector complex subunit 4 "PDZK6|PDZD6" "PDZ domain containing 6|inturned planar cell polarity effector homolog (Drosophila)" "PDZ domain containing|Ciliogenesis and planar polarity effector complex subunits" "1220|1610" 2004-01-30 2006-10-24 2013-03-05 2023-01-20 27152 ENSG00000164066 OTTHUMG00000161202 uc003ifk.3 BC051698 NM_015693 CCDS34061 Q9ULD6 "10574462|21761479" MGI:2443752 RGD:1309446 610621 470508 HGNC:29239 "ENST00000335251.11|NM_015693.4" HGNC:29239 HGNC:17870 INVS inversin protein-coding gene gene with protein product Approved 9q31.1 09q31.1 nephrocystin 2 NPHP2 nephronophthisis 2 (infantile) Ankyrin repeat domain containing 403 2002-06-11 2003-08-11 2023-03-15 27130 ENSG00000119509 OTTHUMG00000020364 uc004bap.3 AF039217 NM_014425 CCDS6746 Q9Y283 12872123 MGI:1335082 RGD:1563359 243305 122667 HGNC:17870 "ENST00000262457.7|NM_014425.5" HGNC:17870 HGNC:18360 IP6K1 inositol hexakisphosphate kinase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 KIAA0263 IHPK1 inositol hexaphosphate kinase 1 2002-03-11 2008-12-22 2009-01-05 2023-01-20 9807 ENSG00000176095 OTTHUMG00000158197 uc003cxm.2 D87452 NM_153273 "CCDS43092|CCDS33760" Q92551 MGI:1351633 RGD:71025 606991 HGNC:18360 "ENST00000321599.9|NM_153273.4" -HGNC:17313 IP6K2 inositol hexakisphosphate kinase 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 IHPK2 inositol hexaphosphate kinase 2 2002-01-04 2008-12-22 2009-01-05 2023-01-20 51447 ENSG00000068745 OTTHUMG00000133543 uc003cuq.4 AF177145 NM_016291 "CCDS2777|CCDS54581|CCDS54579|CCDS33752|CCDS54580" Q9UHH9 10574768 MGI:1923750 RGD:620529 606992 HGNC:17313 "ENST00000328631.10|NM_016291.4" +HGNC:17313 IP6K2 inositol hexakisphosphate kinase 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 IHPK2 inositol hexaphosphate kinase 2 2002-01-04 2008-12-22 2009-01-05 2023-01-20 51447 ENSG00000068745 OTTHUMG00000133543 uc003cuq.4 AF177145 NM_016291 "CCDS54580|CCDS54581|CCDS33752|CCDS2777|CCDS54579" Q9UHH9 10574768 MGI:1923750 RGD:620529 606992 HGNC:17313 "ENST00000328631.10|NM_016291.4" HGNC:17269 IP6K3 inositol hexakisphosphate kinase 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 INSP6K3 IHPK3 inositol hexaphosphate kinase 3 2002-01-04 2008-12-22 2009-01-05 2023-01-20 117283 ENSG00000161896 OTTHUMG00000014531 uc003ofb.3 AF393812 NM_054111 CCDS34435 Q96PC2 11502751 MGI:3045325 RGD:1584104 606993 HGNC:17269 "ENST00000293756.5|NM_054111.5" HGNC:21204 IPCEF1 interaction protein for cytohesin exchange factors 1 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "PIP3-E|KIAA0403" phosphoinositide binding protein PIP3-E Pleckstrin homology domain containing 682 2009-02-27 2023-01-20 26034 ENSG00000074706 OTTHUMG00000015872 uc003qpx.4 AB007863 NM_001130699 "CCDS5245|CCDS47509" Q8WWN9 "11804589|19756519" MGI:2444159 RGD:735159 619948 HGNC:21204 "ENST00000367220.9|NM_001130700.2" HGNC:20739 IPMK inositol polyphosphate multikinase protein-coding gene gene with protein product Approved 10q21.1 10q21.1 2004-02-05 2004-07-22 2023-01-20 253430 ENSG00000151151 OTTHUMG00000018268 uc001jkb.3 AF432853 NM_152230 CCDS7250 Q8NFU5 "12223481|12027805" MGI:1916968 RGD:620954 609851 457568 2.7.1.151 HGNC:20739 "ENST00000373935.4|NM_152230.5" HGNC:20739 @@ -13381,42 +13382,42 @@ HGNC:9853 IPO8 importin 8 protein-coding gene gene with protein product Approved HGNC:41955 IPO8P1 importin 8 pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 2011-05-23 2014-11-18 100418819 ENSG00000224668 OTTHUMG00000036450 NG_029777 HGNC:41955 HGNC:19425 IPO9 importin 9 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Imp9|FLJ10402" "Importins|MicroRNA protein coding host genes" "596|1691" 2003-03-10 2023-01-20 55705 ENSG00000198700 OTTHUMG00000035805 uc001gwz.4 AF410465 NM_018085 CCDS1415 Q96P70 "11823430|10574461" MGI:1918944 RGD:1310537 HGNC:19425 "ENST00000361565.9|NM_018085.5" HGNC:40892 IPO9-AS1 IPO9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 IPO9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-24 2012-08-15 2021-07-22 100873949 ENSG00000231871 OTTHUMG00000035809 uc031vjy.2 BI916758 NR_046696 IPO9-AS1 HGNC:40892 -HGNC:20628 IPO11 importin 11 protein-coding gene gene with protein product Approved 5q12.1 05q12.1 RanBP11 Importins 596 2003-03-10 2023-01-20 51194 ENSG00000086200 OTTHUMG00000154400 uc003jtc.4 AF111109 NM_016338 "CCDS47217|CCDS34167" Q9UI26 MGI:2442377 610889 HGNC:20628 "ENST00000325324.11|NM_016338.5" +HGNC:20628 IPO11 importin 11 protein-coding gene gene with protein product Approved 5q12.1 05q12.1 RanBP11 Importins 596 2003-03-10 2023-01-20 51194 ENSG00000086200 OTTHUMG00000154400 uc003jtc.4 AF111109 NM_016338 "CCDS34167|CCDS47217" Q9UI26 MGI:2442377 610889 HGNC:20628 "ENST00000325324.11|NM_016338.5" HGNC:16853 IPO13 importin 13 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "IMP13|KIAA0724|RANBP13" Importins 596 2003-03-10 2023-01-20 9670 ENSG00000117408 OTTHUMG00000008297 uc001ckx.4 AB018267 NM_014652 CCDS503 O94829 "9872452|11447110" MGI:2385205 RGD:620071 610411 HGNC:16853 "ENST00000372343.8|NM_014652.4" HGNC:6108 IPP intracisternal A particle-promoted polypeptide protein-coding gene gene with protein product Approved 1p34.1 01p34.1 KLHL27 kelch-like family member 27 "Kelch like|BTB domain containing" "617|861" 1992-05-08 2023-01-20 3652 ENSG00000197429 OTTHUMG00000008004 uc001cou.4 BC032544 NM_005897 "CCDS44132|CCDS30702" Q9Y573 "1905535|8432546" MGI:96581 RGD:1306299 147485 HGNC:6108 "ENST00000396478.4|NM_005897.3" HGNC:14645 IPPK inositol-pentakisphosphate 2-kinase protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "INSP5K2|FLJ13163|IP5K|IPK1" C9orf12 "chromosome 9 open reading frame 12|inositol 1,3,4,5,6-pentakisphosphate 2-kinase" 2001-02-27 2005-10-20 2015-11-27 2023-01-20 64768 ENSG00000127080 OTTHUMG00000020231 uc004asl.1 AK023225 NM_022755 CCDS6699 Q9H8X2 12084730 MGI:1922928 RGD:1311271 619043 HGNC:14645 "ENST00000287996.8|NM_022755.6" HGNC:39390 IPPKP1 inositol 1,3,4,5,6-pentakisphosphate 2-kinase pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 2010-12-02 2010-12-02 100874419 ENSG00000225585 OTTHUMG00000016530 NG_032283 PGOHUM00000248321 HGNC:39390 HGNC:6109 IPW imprinted in Prader-Willi syndrome non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 NCRNA00002 non-protein coding RNA 2 imprinted in Prader-Willi syndrome (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 1994-12-13 2018-05-16 2018-08-23 3653 U12897 NR_023915 "7849716|9601023|24816254" 601491 ipw HGNC:6109 -HGNC:49576 IQANK1 IQ motif and ankyrin repeat containing 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 onco-lncRNA-3 FAM83H-AS1 FAM83H antisense RNA 1 (head to head) Ankyrin repeat domain containing 403 2017-02-10 2023-01-20 642574 ENSG00000203499 OTTHUMG00000165153 BM020479 NM_001381874 "CCDS94352|CCDS94353" A8MXQ7 MGI:3588184 RGD:1563870 618942 HGNC:49576 "ENST00000527139.7|NM_001381874.1" -HGNC:26195 IQCA1 IQ motif containing with AAA domain 1 protein-coding gene gene with protein product Approved 2q37.2-q37.3 02q37.2-q37.3 "FLJ22527|DRC11" dynein regulatory complex subunit 11 IQCA IQ motif containing with AAA domain "AAA ATPases|Dynein regulatory complex" "413|981" 2004-09-01 2008-07-02 2008-07-02 2023-01-20 79781 ENSG00000132321 OTTHUMG00000153058 uc002vvz.3 AK026180 NM_024726 "CCDS46549|CCDS59441|CCDS74677" Q86XH1 23427265 MGI:1922168 RGD:1305311 HGNC:26195 "ENST00000409907.8|NM_024726.5" +HGNC:49576 IQANK1 IQ motif and ankyrin repeat containing 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "onco-lncRNA-3|CACClnc" Chemoresistance Associated CRC lncRNA FAM83H-AS1 FAM83H antisense RNA 1 (head to head) Ankyrin repeat domain containing 403 2017-02-10 2023-06-07 642574 ENSG00000203499 OTTHUMG00000165153 BM020479 NM_001381874 "CCDS94352|CCDS94353" A8MXQ7 MGI:3588184 RGD:1563870 618942 HGNC:49576 "ENST00000527139.7|NM_001381874.1" +HGNC:26195 IQCA1 IQ motif containing with AAA domain 1 protein-coding gene gene with protein product Approved 2q37.2-q37.3 02q37.2-q37.3 "FLJ22527|DRC11" dynein regulatory complex subunit 11 IQCA IQ motif containing with AAA domain "AAA ATPases|Dynein regulatory complex" "413|981" 2004-09-01 2008-07-02 2008-07-02 2023-01-20 79781 ENSG00000132321 OTTHUMG00000153058 uc002vvz.3 AK026180 NM_024726 "CCDS46549|CCDS74677|CCDS59441" Q86XH1 23427265 MGI:1922168 RGD:1305311 HGNC:26195 "ENST00000409907.8|NM_024726.5" HGNC:41137 IQCA1-AS1 IQCA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37 02q37 Antisense RNAs 1987 2014-05-12 2014-11-19 107080627 ENSG00000232893 OTTHUMG00000153059 BF509914 NR_174961 IQCA1-AS1 HGNC:22831 IQCA1L IQ motif containing with AAA domain 1 like protein-coding gene gene with protein product Approved 7q36.1 07q36.1 TCAG_9762 IQCA1P1 IQ motif containing with AAA domain 1 pseudogene 1 2009-01-23 2014-11-19 2014-11-19 2023-01-20 392843 ENSG00000278685 OTTHUMG00000156140 NM_001304419 CCDS78288 A6NCM1 MGI:3045319 RGD:1564789 HGNC:22831 "ENST00000615129.4|NM_001304419.2" HGNC:28949 IQCB1 IQ motif containing B1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "KIAA0036|NPHP5|SLSN5" nephrocystin-5 IQ calmodulin-binding motif containing 1 Armadillo like helical domain containing 1492 2004-03-05 2004-09-02 2023-03-15 9657 ENSG00000173226 OTTHUMG00000128677 uc010hre.1 D25278 NM_014642 "CCDS33836|CCDS33837" Q15051 15723066 MGI:2443764 RGD:1310069 609237 122670 HGNC:28949 "ENST00000310864.11|NM_001023570.4" HGNC:28949 HGNC:17727 IQCB2P IQ motif containing B2 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 dJ313I6.1 KIAA0036 pseudogene IQCB1P1 IQCB1 pseudogene 1 2004-11-25 2005-01-17 2014-11-19 340192 ENSG00000217539 OTTHUMG00000014501 NG_005320 PGOHUM00000243536 HGNC:17727 HGNC:25545 IQCC IQ motif containing C protein-coding gene gene with protein product Approved 1p35.2 01p35.2 FLJ10547 2004-09-02 2023-01-20 55721 ENSG00000160051 OTTHUMG00000005739 uc001bum.3 AL049795 NM_018134 "CCDS53293|CCDS355" Q4KMZ1 MGI:2446212 RGD:1583461 HGNC:25545 "ENST00000291358.11|NM_018134.3" HGNC:25168 IQCD IQ motif containing D protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "DRC10|CFAP84" dynein regulatory complex subunit 10 "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2004-09-02 2023-01-20 115811 ENSG00000166578 OTTHUMG00000169659 uc001tuu.4 BC013151 NM_138451 "CCDS9167|CCDS81743" Q96DY2 "23427265|24804578" MGI:1922982 RGD:1560757 HGNC:25168 "ENST00000416617.3|NM_001330452.2" -HGNC:29171 IQCE IQ motif containing E protein-coding gene gene with protein product Approved 7p22.3 07p22.3 KIAA1023 2004-09-02 2023-01-20 23288 ENSG00000106012 OTTHUMG00000152047 uc003smo.6 AL136792 NM_152558 "CCDS47527|CCDS43542|CCDS75560|CCDS94047|CCDS75559" Q6IPM2 10470851 MGI:1921489 RGD:1311349 617631 HGNC:29171 "ENST00000402050.7|NM_152558.5" HGNC:29171 +HGNC:29171 IQCE IQ motif containing E protein-coding gene gene with protein product Approved 7p22.3 07p22.3 KIAA1023 2004-09-02 2023-01-20 23288 ENSG00000106012 OTTHUMG00000152047 uc003smo.6 AL136792 NM_152558 "CCDS94047|CCDS43542|CCDS47527|CCDS75559|CCDS75560" Q6IPM2 10470851 MGI:1921489 RGD:1311349 617631 HGNC:29171 "ENST00000402050.7|NM_152558.5" HGNC:29171 HGNC:28607 IQCF1 IQ motif containing F1 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 MGC39725 2004-09-02 2023-01-20 132141 ENSG00000173389 OTTHUMG00000156908 uc003dbv.4 BC029595 NM_152397 CCDS2836 Q8N6M8 25380116 MGI:1921517 RGD:1565640 HGNC:28607 "ENST00000310914.10|NM_152397.3" HGNC:31815 IQCF2 IQ motif containing F2 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 2004-09-02 2023-01-20 389123 ENSG00000184345 OTTHUMG00000156914 uc003dbt.2 AK128883 NM_203424 CCDS2835 Q8IXL9 RGD:1565277 HGNC:31815 "ENST00000333127.4|NM_203424.2" HGNC:31816 IQCF3 IQ motif containing F3 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 2004-09-02 2023-01-20 401067 ENSG00000229972 OTTHUMG00000156910 uc062khs.1 AK057432 NM_001085479 CCDS46837 P0C7M6 HGNC:31816 "ENST00000440739.4|NM_001393887.1" HGNC:54720 IQCF4P IQ motif containing F4, pseudogene pseudogene pseudogene Approved 3p21.2 03p21.2 2019-12-10 2019-12-10 100506840 ENSG00000224792 OTTHUMG00000156909 NR_038213 MGI:1914570 HGNC:35159 IQCF5 IQ motif containing F5 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 2008-10-16 2023-01-20 389124 ENSG00000214681 OTTHUMG00000156913 uc011bdx.2 NM_001145059 CCDS46838 A8MTL0 MGI:1922720 RGD:1560754 HGNC:35159 "ENST00000446461.2|NM_001145059.2" HGNC:41297 IQCF5-AS1 IQCF5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.2 03p21.2 IQCF5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2020-04-20 101928999 ENSG00000235455 OTTHUMG00000156912 uc032rnu.1 NR_109984 IQCF5-AS1 HGNC:41297 -HGNC:35158 IQCF6 IQ motif containing F6 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 2008-10-16 2023-01-20 440956 ENSG00000214686 OTTHUMG00000187148 uc021wyv.1 NM_001143833 "CCDS93281|CCDS93280" A8MYZ5 MGI:3781315 RGD:1562645 HGNC:35158 "ENST00000667863.2|NM_001368369.1" -HGNC:25251 IQCG IQ motif containing G protein-coding gene gene with protein product Approved 3q29 03q29 "DKFZp434B227|DRC9|CFAP122" dynein regulatory complex subunit 9 "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2005-01-19 2023-01-20 84223 ENSG00000114473 OTTHUMG00000155408 uc003fyp.4 AL136889 NM_032263 "CCDS82898|CCDS3331" Q9H095 "11230166|23427265|24362311" MGI:1916957 RGD:1311606 612477 HGNC:25251 "ENST00000265239.11|NM_032263.5" -HGNC:25721 IQCH IQ motif containing H protein-coding gene gene with protein product Approved 15q23 15q23 FLJ12476 2005-10-24 2023-01-20 64799 ENSG00000103599 OTTHUMG00000133231 uc002aqo.3 AY014282 NM_022784 "CCDS76772|CCDS61681|CCDS10223|CCDS32273|CCDS61680" Q86VS3 12477932 MGI:1925500 RGD:1310670 612523 HGNC:25721 "ENST00000335894.9|NM_001031715.3" +HGNC:35158 IQCF6 IQ motif containing F6 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 2008-10-16 2023-01-20 440956 ENSG00000214686 OTTHUMG00000187148 uc021wyv.1 NM_001143833 "CCDS93280|CCDS93281" A8MYZ5 MGI:3781315 RGD:1562645 HGNC:35158 "ENST00000667863.2|NM_001368369.1" +HGNC:25251 IQCG IQ motif containing G protein-coding gene gene with protein product Approved 3q29 03q29 "DKFZp434B227|DRC9|CFAP122" dynein regulatory complex subunit 9 "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2005-01-19 2023-01-20 84223 ENSG00000114473 OTTHUMG00000155408 uc003fyp.4 AL136889 NM_032263 "CCDS3331|CCDS82898" Q9H095 "11230166|23427265|24362311" MGI:1916957 RGD:1311606 612477 HGNC:25251 "ENST00000265239.11|NM_032263.5" +HGNC:25721 IQCH IQ motif containing H protein-coding gene gene with protein product Approved 15q23 15q23 FLJ12476 2005-10-24 2023-01-20 64799 ENSG00000103599 OTTHUMG00000133231 uc002aqo.3 AY014282 NM_022784 "CCDS10223|CCDS32273|CCDS76772|CCDS61680|CCDS61681" Q86VS3 12477932 MGI:1925500 RGD:1310670 612523 HGNC:25721 "ENST00000335894.9|NM_001031715.3" HGNC:44104 IQCH-AS1 IQCH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 IQCH antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2012-10-12 100506686 ENSG00000259673 OTTHUMG00000172247 uc059kpr.1 NR_040051 IQCH-AS1 HGNC:44104 -HGNC:32406 IQCJ IQ motif containing J protein-coding gene gene with protein product Approved 3q25.32 03q25.32 2006-01-16 2023-01-20 654502 ENSG00000214216 OTTHUMG00000166440 uc003fcp.3 "DQ309553|DQ309554" NM_001042705.1 "CCDS46946|CCDS46947|CCDS56290" Q1A5X6 17045569 MGI:3644166 611622 HGNC:32406 "ENST00000397832.7|NM_001042706.3" +HGNC:32406 IQCJ IQ motif containing J protein-coding gene gene with protein product Approved 3q25.32 03q25.32 2006-01-16 2023-01-20 654502 ENSG00000214216 OTTHUMG00000166440 uc003fcp.3 "DQ309553|DQ309554" NM_001042705.1 "CCDS56290|CCDS46947|CCDS46946" Q1A5X6 17045569 MGI:3644166 611622 HGNC:32406 "ENST00000397832.7|NM_001042706.3" HGNC:38842 IQCJ-SCHIP1 IQCJ-SCHIP1 readthrough other readthrough Approved 3q25.32-q25.33 03q25.32-q25.33 2010-10-11 2023-03-15 100505385 ENSG00000283154 OTTHUMG00000162426 uc003fcs.3 NM_001197113 B3KU38 MGI:5439400 HGNC:38842 HGNC:41303 IQCJ-SCHIP1-AS1 IQCJ-SCHIP1 readthrough antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.33 03q25.33 IQCJ-SCHIP1 readthrough antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-16 2012-08-15 2019-06-19 100874433 ENSG00000241211 OTTHUMG00000158933 uc062pmg.1 NR_121669 31205916 IQCJ-SCHIP1-AS1 HGNC:41303 HGNC:28556 IQCK IQ motif containing K protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "MGC35048|FLJ36575" 2006-06-14 2023-01-20 124152 ENSG00000174628 OTTHUMG00000131453 uc002dgr.4 AF520569 NM_153208 CCDS10580 Q8N0W5 10493829 MGI:3612188 RGD:6502881 HGNC:28556 "ENST00000695302.1|NM_153208.3" -HGNC:53443 IQCM IQ motif containing M protein-coding gene gene with protein product Approved 4q31.23 04q31.23 2017-04-13 2023-01-20 285423 ENSG00000234828 OTTHUMG00000161394 NM_001363507 "CCDS87270|CCDS87271" A0A1B0GVH7 MGI:1919081 RGD:1359286 HGNC:53443 "ENST00000636793.2|NM_001363507.2" -HGNC:29350 IQCN IQ motif containing N protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA1683 KIAA1683 2004-02-12 2017-10-24 2017-10-24 2023-01-20 80726 ENSG00000130518 OTTHUMG00000183354 uc002nin.3 AB051470 NM_001145304 "CCDS46018|CCDS46017|CCDS32958" Q9H0B3 "11214970|11230166" MGI:3708784 RGD:7549926 620160 HGNC:29350 "ENST00000392413.5|NM_001145304.2" +HGNC:53443 IQCM IQ motif containing M protein-coding gene gene with protein product Approved 4q31.23 04q31.23 2017-04-13 2023-01-20 285423 ENSG00000234828 OTTHUMG00000161394 NM_001363507 "CCDS87271|CCDS87270" A0A1B0GVH7 MGI:1919081 RGD:1359286 HGNC:53443 "ENST00000636793.2|NM_001363507.2" +HGNC:29350 IQCN IQ motif containing N protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA1683 KIAA1683 2004-02-12 2017-10-24 2017-10-24 2023-01-20 80726 ENSG00000130518 OTTHUMG00000183354 uc002nin.3 AB051470 NM_001145304 "CCDS32958|CCDS46017|CCDS46018" Q9H0B3 "11214970|11230166" MGI:3708784 RGD:7549926 620160 HGNC:29350 "ENST00000392413.5|NM_001145304.2" HGNC:6110 IQGAP1 IQ motif containing GTPase activating protein 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "p195|KIAA0051|SAR1|HUMORFA01" RasGAP-like with IQ motifs IQ motif containing GTPase activating protein family 2021 1999-07-23 2023-01-20 8826 ENSG00000140575 OTTHUMG00000149832 uc002bpl.2 D29640 NM_003870 CCDS10362 P46940 "8051149|8670801" MGI:1352757 RGD:1311884 603379 HGNC:6110 "ENST00000268182.10|NM_003870.4" -HGNC:6111 IQGAP2 IQ motif containing GTPase activating protein 2 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 IQ motif containing GTPase activating protein family 2021 1999-07-23 2023-01-20 10788 ENSG00000145703 OTTHUMG00000162432 uc003kek.5 U51903 NM_006633 "CCDS68897|CCDS68898|CCDS75262|CCDS34188" Q13576 8756646 MGI:2449975 RGD:2321734 605401 HGNC:6111 "ENST00000274364.11|NM_006633.5" +HGNC:6111 IQGAP2 IQ motif containing GTPase activating protein 2 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 IQ motif containing GTPase activating protein family 2021 1999-07-23 2023-01-20 10788 ENSG00000145703 OTTHUMG00000162432 uc003kek.5 U51903 NM_006633 "CCDS75262|CCDS34188|CCDS68898|CCDS68897" Q13576 8756646 MGI:2449975 RGD:2321734 605401 HGNC:6111 "ENST00000274364.11|NM_006633.5" HGNC:20669 IQGAP3 IQ motif containing GTPase activating protein 3 protein-coding gene gene with protein product Approved 1q22 01q22 IQ motif containing GTPase activating protein family 2021 2003-06-23 2023-01-20 128239 ENSG00000183856 OTTHUMG00000033114 uc001fpf.4 AY253300 NM_178229 CCDS1144 Q86VI3 MGI:3028642 RGD:1305951 HGNC:20669 "ENST00000361170.7|NM_178229.5" -HGNC:29112 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "KIAA0763|GEP100|BRAG2|ARF-GEP100" brefeldin A-resistant ARF-GEF2 IQ motif and Sec7 domain 1 IQSEC ArfGEF family 1881 2004-08-27 2019-08-23 2023-01-20 9922 ENSG00000144711 OTTHUMG00000155398 uc003bxt.4 BC010267 NM_014869 "CCDS74902|CCDS33703|CCDS93218|CCDS87048" Q6DN90 "9872452|8619474|31607425" MGI:1196356 RGD:1596313 610166 470510 HGNC:29112 "ENST00000613206.2|NM_001134382.3" HGNC:29112 -HGNC:29059 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "KIAA0522|BRAG1|IQ-ArfGEF" brefeldin A resistant Arf-guanine nucleotide exchange factor 1 "MRX1|MRX78|MRX18" "mental retardation, X-linked 1 (non-dysmorphic)|mental retardation, X-linked 78|mental retardation, X-linked 18|IQ motif and Sec7 domain 2" IQSEC ArfGEF family 1881 2004-08-27 2019-08-23 2023-01-20 23096 ENSG00000124313 OTTHUMG00000021608 uc004dsc.4 AB011094 NM_001111125 "CCDS87748|CCDS94612|CCDS35298|CCDS48130" Q5JU85 "9628581|20473311|26793055" MGI:3528396 RGD:1596452 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IQSEC2|LRG_1194|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1194.xml" 300522 232248 HGNC:29059 "ENST00000642864.1|NM_001111125.3" HGNC:29059 +HGNC:29112 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "KIAA0763|GEP100|BRAG2|ARF-GEP100" brefeldin A-resistant ARF-GEF2 IQ motif and Sec7 domain 1 IQSEC ArfGEF family 1881 2004-08-27 2019-08-23 2023-01-20 9922 ENSG00000144711 OTTHUMG00000155398 uc003bxt.4 BC010267 NM_014869 "CCDS33703|CCDS87048|CCDS93218|CCDS74902" Q6DN90 "9872452|8619474|31607425" MGI:1196356 RGD:1596313 610166 470510 HGNC:29112 "ENST00000613206.2|NM_001134382.3" HGNC:29112 +HGNC:29059 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "KIAA0522|BRAG1|IQ-ArfGEF" brefeldin A resistant Arf-guanine nucleotide exchange factor 1 "MRX1|MRX78|MRX18" "mental retardation, X-linked 1 (non-dysmorphic)|mental retardation, X-linked 78|mental retardation, X-linked 18|IQ motif and Sec7 domain 2" IQSEC ArfGEF family 1881 2004-08-27 2019-08-23 2023-01-20 23096 ENSG00000124313 OTTHUMG00000021608 uc004dsc.4 AB011094 NM_001111125 "CCDS94612|CCDS87748|CCDS48130|CCDS35298" Q5JU85 "9628581|20473311|26793055" MGI:3528396 RGD:1596452 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IQSEC2|LRG_1194|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1194.xml" 300522 232248 HGNC:29059 "ENST00000642864.1|NM_001111125.3" HGNC:29059 HGNC:29193 IQSEC3 IQ motif and Sec7 domain ArfGEF 3 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "KIAA1110|MGC30156" IQ motif and Sec7 domain 3 IQSEC ArfGEF family 1881 2004-08-27 2019-08-23 2023-01-20 440073 ENSG00000120645 OTTHUMG00000167975 uc001qhu.2 AB029033 NM_001170738 "CCDS31725|CCDS53728" Q9UPP2 10470851 MGI:2677208 RGD:1593191 612118 HGNC:29193 "ENST00000538872.6|NM_001170738.2" HGNC:56002 IQSEC3-AS1 IQSEC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Antisense RNAs 1987 2021-11-25 2021-11-25 105369592 ENSG00000256540 NR_183430 HGNC:56741 IQSEC3-AS2 IQSEC3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 AC026369.3 Antisense RNAs 1987 2023-02-06 2023-02-06 105369593 ENSG00000256948 NR_184284 33869042 @@ -13424,31 +13425,31 @@ HGNC:49848 IQSEC3P1 IQ motif and Sec7 domain 3 pseudogene 1 pseudogene pseudogen HGNC:49849 IQSEC3P2 IQ motif and Sec7 domain 3 pseudogene 2 pseudogene pseudogene Approved 12p13.2 12p13.2 2014-03-18 2014-03-18 100130073 NG_021705 PGOHUM00000239674 HGNC:49849 HGNC:49850 IQSEC3P3 IQ motif and Sec7 domain 3 pseudogene 3 pseudogene pseudogene Approved 20q13.33 20q13.33 2014-03-18 2014-03-18 728056 NG_021984 PGOHUM00000247575 HGNC:49850 HGNC:21995 IQUB IQ motif and ubiquitin domain containing protein-coding gene gene with protein product Approved 7q31.32 07q31.32 FLJ35834 2007-01-22 2023-01-20 154865 ENSG00000164675 OTTHUMG00000157347 uc003vko.4 AK093153 NM_178827 CCDS5787 Q8NA54 MGI:3041159 RGD:4145674 HGNC:21995 "ENST00000324698.11|NM_178827.5" -HGNC:7237 IRAG1 inositol 1,4,5-triphosphate receptor associated 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "JAW1L|IRAG" "inositol 1,4,5-triphosphate-associated cGMP kinase substrate|IP3R-associated cGMP kinase substrate" MRVI1 murine retrovirus integration site 1 homolog 1999-06-10 2020-03-02 2020-03-02 2023-01-20 10335 ENSG00000072952 OTTHUMG00000165773 uc010rcc.2 AF081249 NM_001098579 "CCDS44539|CCDS55745|CCDS44540|CCDS55746|CCDS44538" Q9Y6F6 10321731 MGI:1338023 RGD:1309828 604673 HGNC:7237 "ENST00000423302.7|NM_130385.4" +HGNC:7237 IRAG1 inositol 1,4,5-triphosphate receptor associated 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "JAW1L|IRAG" "inositol 1,4,5-triphosphate-associated cGMP kinase substrate|IP3R-associated cGMP kinase substrate" MRVI1 murine retrovirus integration site 1 homolog 1999-06-10 2020-03-02 2020-03-02 2023-01-20 10335 ENSG00000072952 OTTHUMG00000165773 uc010rcc.2 AF081249 NM_001098579 "CCDS44539|CCDS44538|CCDS55745|CCDS44540|CCDS55746" Q9Y6F6 10321731 MGI:1338023 RGD:1309828 604673 HGNC:7237 "ENST00000423302.7|NM_130385.4" HGNC:43434 IRAG1-AS1 IRAG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 MRVI1-AS1 "MRVI1 antisense RNA 1 (non-protein coding)|MRVI1 antisense RNA 1" Antisense RNAs 1987 2011-10-28 2020-03-02 2020-03-02 2020-03-02 100129827 ENSG00000177112 OTTHUMG00000165772 uc031pza.2 NR_034093 31273338 MRVI1-AS1 HGNC:43434 HGNC:6690 IRAG2 inositol 1,4,5-triphosphate receptor associated 2 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 JAW1 LRMP "lymphoid-restricted membrane protein|lymphoid restricted membrane protein" 1997-10-28 2020-03-02 2020-03-02 2023-01-20 4033 ENSG00000118308 OTTHUMG00000170192 uc001rgh.4 NM_006152 "CCDS91664|CCDS8701" Q12912 8021504 MGI:108424 RGD:1562062 602003 HGNC:6690 "ENST00000556887.6|NM_001366544.2" HGNC:50365 IRAIN IGF1R antisense imprinted non-protein coding RNA non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 IGF1R-AS IGF1R antisense RNA Long non-coding RNAs with non-systematic symbols 1992 2014-08-07 2021-10-15 104472848 ENSG00000259424 OTTHUMG00000171862 NR_126453 "25092925|27644252" LRG_1064|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1064.xml 619212 HGNC:50365 -HGNC:6112 IRAK1 interleukin 1 receptor associated kinase 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "IRAK|pelle" 1998-06-22 2015-11-11 2023-01-20 3654 ENSG00000184216 OTTHUMG00000024228 uc004fjs.2 L76191 NM_001025242 "CCDS94700|CCDS35443|CCDS35444|CCDS14740" P51617 "9374458|8599092" MGI:107420 RGD:1563841 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IRAK1 300283 369336 objectId:2042 HGNC:6112 "ENST00000369980.8|NM_001569.4" +HGNC:6112 IRAK1 interleukin 1 receptor associated kinase 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "IRAK|pelle" 1998-06-22 2015-11-11 2023-01-20 3654 ENSG00000184216 OTTHUMG00000024228 uc004fjs.2 L76191 NM_001025242 "CCDS35443|CCDS35444|CCDS94700|CCDS14740" P51617 "9374458|8599092" MGI:107420 RGD:1563841 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IRAK1 300283 369336 objectId:2042 HGNC:6112 "ENST00000369980.8|NM_001569.4" HGNC:17368 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "AIP70|SIMPL" 2003-07-17 2015-11-11 2023-01-20 134728 ENSG00000146243 OTTHUMG00000015070 uc003pim.6 AI478629 NM_001010844 CCDS34488 Q5VVH5 11096118 MGI:1929475 RGD:1305012 615375 HGNC:17368 "ENST00000369940.7|NM_001010844.4" HGNC:6113 IRAK2 interleukin 1 receptor associated kinase 2 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 1998-06-22 2015-11-11 2023-01-20 3656 ENSG00000134070 OTTHUMG00000155358 uc003bve.2 AF026273 NM_001570 CCDS33697 O43187 9374458 MGI:2429603 RGD:1309584 603304 objectId:2043 HGNC:6113 "ENST00000256458.5|NM_001570.4" HGNC:17020 IRAK3 interleukin 1 receptor associated kinase 3 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 IRAK-M interleukin-1 receptor-associated kinase 3 MicroRNA protein coding host genes 1691 2002-07-17 2015-11-11 2023-01-20 11213 ENSG00000090376 OTTHUMG00000169002 uc001sth.4 AF113136 NM_001142523 "CCDS8975|CCDS44937" Q9Y616 10383454 MGI:1921164 RGD:1308846 604459 objectId:2044 HGNC:17020 "ENST00000261233.9|NM_007199.3" HGNC:17020 -HGNC:17967 IRAK4 interleukin 1 receptor associated kinase 4 protein-coding gene gene with protein product Approved 12q12 12q12 NY-REN-64 2002-09-27 2015-11-11 2023-01-20 51135 ENSG00000198001 OTTHUMG00000169425 uc001rnt.4 AF155118 NM_001114182 "CCDS8744|CCDS44862" Q9NWZ3 "3772297|10508479" MGI:2182474 RGD:1305303 "IRAK4base: Mutation registry for IRAK4 deficiency|http://structure.bmc.lu.se/idbase/IRAK4base/|LRG_75|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_75.xml" 606883 122674 objectId:2045 HGNC:17967 "ENST00000613694.5|NM_016123.4" HGNC:17967 +HGNC:17967 IRAK4 interleukin 1 receptor associated kinase 4 protein-coding gene gene with protein product Approved 12q12 12q12 NY-REN-64 2002-09-27 2015-11-11 2023-01-20 51135 ENSG00000198001 OTTHUMG00000169425 uc001rnt.4 AF155118 NM_001114182 "CCDS44862|CCDS8744" Q9NWZ3 "3772297|10508479" MGI:2182474 RGD:1305303 "IRAK4base: Mutation registry for IRAK4 deficiency|http://structure.bmc.lu.se/idbase/IRAK4base/|LRG_75|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_75.xml" 606883 122674 objectId:2045 HGNC:17967 "ENST00000613694.5|NM_016123.4" HGNC:17967 HGNC:6115 IREB2 iron responsive element binding protein 2 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 IRP2 1991-02-20 2015-11-12 2023-01-20 3658 ENSG00000136381 OTTHUMG00000143861 uc002bdr.3 M58511 NM_004136 "CCDS10302|CCDS81912" P48200 2172968 MGI:1928268 RGD:621539 147582 HGNC:6115 "ENST00000258886.13|NM_004136.4" HGNC:6115 -HGNC:6116 IRF1 interferon regulatory factor 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 MAR interferon regulatory factor-1 Interferon regulatory factors 1743 1991-05-09 2023-01-20 3659 ENSG00000125347 OTTHUMG00000059497 uc003kxa.3 NM_002198 "CCDS93778|CCDS93779|CCDS4155" P10914 "2726461|1680796" MGI:96590 RGD:2920 147575 470512 HGNC:6116 "ENST00000245414.9|NM_002198.3" +HGNC:6116 IRF1 interferon regulatory factor 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 MAR interferon regulatory factor-1 Interferon regulatory factors 1743 1991-05-09 2023-01-20 3659 ENSG00000125347 OTTHUMG00000059497 uc003kxa.3 NM_002198 "CCDS93779|CCDS4155|CCDS93778" P10914 "2726461|1680796" MGI:96590 RGD:2920 147575 470512 HGNC:6116 "ENST00000245414.9|NM_002198.3" HGNC:33838 IRF1-AS1 IRF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 C5orf56 chromosome 5 open reading frame 56 Antisense RNAs 1987 2009-04-20 2019-07-24 2019-07-24 2023-03-15 441108 ENSG00000197536 OTTHUMG00000059493 uc003kwy.4 BC130299 NR_161242 Q8N8D9 HGNC:33838 HGNC:6117 IRF2 interferon regulatory factor 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 Interferon regulatory factors 1743 1991-05-09 2023-01-20 3660 ENSG00000168310 OTTHUMG00000160606 uc003iwf.5 NM_002199 CCDS3835 P14316 2475256 MGI:96591 RGD:1304922 147576 HGNC:6117 "ENST00000393593.8|NM_002199.4" HGNC:54871 IRF2-DT IRF2 divergent transcript non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 Divergent transcripts 1990 2020-04-01 2020-04-01 117134601 ENSG00000271646 32211330 HGNC:21728 IRF2BP1 interferon regulatory factor 2 binding protein 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "DKFZP434M154|IRF-2BP1" 2003-07-21 2023-01-20 26145 ENSG00000170604 OTTHUMG00000182485 uc002pds.2 AY278022 NM_015649 CCDS12678 Q8IU81 12799427 MGI:2442159 RGD:1308312 615331 HGNC:21728 "ENST00000302165.5|NM_015649.3" -HGNC:21729 IRF2BP2 interferon regulatory factor 2 binding protein 2 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 IRF-2BP2 2003-07-21 2023-01-20 359948 ENSG00000168264 OTTHUMG00000037981 uc001hwg.3 AY278023 NM_182972 "CCDS1602|CCDS41475" Q7Z5L9 12799427 MGI:2443921 RGD:1589517 615332 HGNC:21729 "ENST00000366609.4|NM_182972.3" HGNC:21729 +HGNC:21729 IRF2BP2 interferon regulatory factor 2 binding protein 2 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 IRF-2BP2 2003-07-21 2023-01-20 359948 ENSG00000168264 OTTHUMG00000037981 uc001hwg.3 AY278023 NM_182972 "CCDS41475|CCDS1602" Q7Z5L9 12799427 MGI:2443921 RGD:1589517 615332 HGNC:21729 "ENST00000366609.4|NM_182972.3" HGNC:21729 HGNC:14282 IRF2BPL interferon regulatory factor 2 binding protein like protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "EAP1|KIAA1865" enhanced at puberty 1 C14orf4 "chromosome 14 open reading frame 4|interferon regulatory factor 2 binding protein-like" 2000-12-21 2011-02-23 2016-03-24 2023-01-20 64207 ENSG00000119669 OTTHUMG00000171578 uc001xsy.4 AJ277365 NM_024496 CCDS9854 Q9H1B7 "11095982|17627301" MGI:2442463 RGD:1310994 611720 HGNC:14282 "ENST00000238647.5|NM_024496.4" HGNC:14282 -HGNC:6118 IRF3 interferon regulatory factor 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Interferon regulatory factors 1743 1996-11-13 2023-01-20 3661 ENSG00000126456 OTTHUMG00000183287 uc002pou.4 NM_001571 "CCDS59408|CCDS56099|CCDS59409|CCDS59407|CCDS12775" Q14653 8524823 MGI:1859179 RGD:1549774 603734 470514 HGNC:6118 "ENST00000377139.8|NM_001571.6" -HGNC:6119 IRF4 interferon regulatory factor 4 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 LSIRF MUM1 Interferon regulatory factors 1743 1996-05-31 2023-01-20 3662 ENSG00000137265 OTTHUMG00000016294 uc003msz.5 U52682 NM_001195286 "CCDS4469|CCDS93847" Q15306 "8921401|18417578" MGI:1096873 RGD:1308050 IRF4 601900 470516 HGNC:6119 "ENST00000380956.9|NM_002460.4" -HGNC:6120 IRF5 interferon regulatory factor 5 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 IRF-5 Interferon regulatory factors 1743 1996-05-31 2023-01-20 3663 ENSG00000128604 OTTHUMG00000158410 uc003voh.4 NM_001098627 "CCDS43645|CCDS5808|CCDS56512" Q13568 "11303025|15657875" MGI:1350924 RGD:1310447 607218 239872 HGNC:6120 "ENST00000357234.10|NM_001098629.3" +HGNC:6118 IRF3 interferon regulatory factor 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Interferon regulatory factors 1743 1996-11-13 2023-01-20 3661 ENSG00000126456 OTTHUMG00000183287 uc002pou.4 NM_001571 "CCDS56099|CCDS59407|CCDS12775|CCDS59408|CCDS59409" Q14653 8524823 MGI:1859179 RGD:1549774 603734 470514 HGNC:6118 "ENST00000377139.8|NM_001571.6" +HGNC:6119 IRF4 interferon regulatory factor 4 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 LSIRF MUM1 Interferon regulatory factors 1743 1996-05-31 2023-01-20 3662 ENSG00000137265 OTTHUMG00000016294 uc003msz.5 U52682 NM_001195286 "CCDS93847|CCDS4469" Q15306 "8921401|18417578" MGI:1096873 RGD:1308050 IRF4 601900 470516 HGNC:6119 "ENST00000380956.9|NM_002460.4" +HGNC:6120 IRF5 interferon regulatory factor 5 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 IRF-5 Interferon regulatory factors 1743 1996-05-31 2023-01-20 3663 ENSG00000128604 OTTHUMG00000158410 uc003voh.4 NM_001098627 "CCDS56512|CCDS5808|CCDS43645" Q13568 "11303025|15657875" MGI:1350924 RGD:1310447 607218 239872 HGNC:6120 "ENST00000357234.10|NM_001098629.3" HGNC:41981 IRF5P1 interferon regulatory factor 5 pseudogene 1 pseudogene pseudogene Approved 8q22.1 08q22.1 2011-05-24 2011-05-24 100420406 ENSG00000251347 OTTHUMG00000160421 NG_026120 PGOHUM00000249745 HGNC:41981 -HGNC:6121 IRF6 interferon regulatory factor 6 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "OFC6|VWS1" "VWS|LPS" Van der Woude syndrome Interferon regulatory factors 1743 1997-10-16 2023-01-20 3664 ENSG00000117595 OTTHUMG00000036521 uc001hhq.3 AL022398 NM_006147 "CCDS55681|CCDS1492" O14896 12219090 MGI:1859211 RGD:1309645 607199 122684 HGNC:6121 "ENST00000367021.8|NM_006147.4" HGNC:6121 +HGNC:6121 IRF6 interferon regulatory factor 6 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "OFC6|VWS1" "VWS|LPS" Van der Woude syndrome Interferon regulatory factors 1743 1997-10-16 2023-01-20 3664 ENSG00000117595 OTTHUMG00000036521 uc001hhq.3 AL022398 NM_006147 "CCDS1492|CCDS55681" O14896 12219090 MGI:1859211 RGD:1309645 607199 122684 HGNC:6121 "ENST00000367021.8|NM_006147.4" HGNC:6121 HGNC:6122 IRF7 interferon regulatory factor 7 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 Interferon regulatory factors 1743 1996-11-13 2023-03-15 3665 ENSG00000185507 OTTHUMG00000132019 uc057xis.1 U53830 NM_001572 "CCDS7705|CCDS7704|CCDS7703" Q92985 MGI:1859212 RGD:1307828 LRG_1313|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1313.xml 605047 470518 HGNC:6122 "ENST00000525445.6|NM_001572.5" HGNC:6122 HGNC:5358 IRF8 interferon regulatory factor 8 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "IRF-8|ICSBP" ICSBP1 interferon consensus sequence binding protein 1 "MicroRNA protein coding host genes|Interferon regulatory factors " "1691|1743" 1993-09-09 2004-11-12 2004-11-12 2023-01-20 3394 ENSG00000140968 OTTHUMG00000137648 uc002fjh.4 M91196 NM_002163 "CCDS10956|CCDS86547" Q02556 "1460054|11997525" MGI:96395 RGD:1312024 LRG_294|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_294.xml 601565 315478 HGNC:5358 "ENST00000268638.10|NM_002163.4" HGNC:5358 -HGNC:6131 IRF9 interferon regulatory factor 9 protein-coding gene gene with protein product Approved 14q12 14q12 ISGF3G "interferon-stimulated transcription factor 3, gamma (48kD)|interferon-stimulated transcription factor 3, gamma 48kDa" Interferon regulatory factors 1743 1999-06-21 2007-07-06 2007-07-06 2023-01-20 10379 ENSG00000213928 OTTHUMG00000028799 uc058zzb.1 M87503 NM_001385400 "CCDS91855|CCDS9615|CCDS91854|CCDS91853" Q00978 "1630447|10199920" MGI:107587 RGD:1308766 147574 HGNC:6131 "ENST00000396864.8|NM_006084.5" +HGNC:6131 IRF9 interferon regulatory factor 9 protein-coding gene gene with protein product Approved 14q12 14q12 ISGF3G "interferon-stimulated transcription factor 3, gamma (48kD)|interferon-stimulated transcription factor 3, gamma 48kDa" Interferon regulatory factors 1743 1999-06-21 2007-07-06 2007-07-06 2023-01-20 10379 ENSG00000213928 OTTHUMG00000028799 uc058zzb.1 M87503 NM_001385400 "CCDS91853|CCDS91854|CCDS91855|CCDS9615" Q00978 "1630447|10199920" MGI:107587 RGD:1308766 147574 HGNC:6131 "ENST00000396864.8|NM_006084.5" HGNC:28835 IRGC immunity related GTPase cinema protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "Iigp5|CINEMA" IRGC1 immunity-related GTPase family, cinema 1 2005-02-21 2005-10-31 2016-04-28 2023-01-20 56269 ENSG00000124449 OTTHUMG00000154587 uc002oxh.4 BC066939 NM_019612 CCDS12629 Q6NXR0 20737271 MGI:2685948 RGD:1311107 HGNC:28835 "ENST00000244314.6|NM_019612.4" HGNC:29597 IRGM immunity related GTPase M protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "LRG47|LRG-47|IFI1" IRGM1 immunity-related GTPase family, M1 2005-02-21 2005-03-23 2016-07-11 2023-01-20 345611 ENSG00000237693 OTTHUMG00000163647 uc010jhk.3 BC038539 NM_001145805 CCDS47313 A1A4Y4 "7561525|14576437" "MGI:107567|MGI:107729|MGI:1926262" RGD:1305163 608212 302996 HGNC:29597 "ENST00000522154.2|NM_001145805.2" HGNC:24868 IRGQ immunity related GTPase Q protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FKSG27 IRGQ1 immunity-related GTPase family, Q1 2005-02-21 2005-10-31 2016-06-13 2023-01-20 126298 ENSG00000167378 OTTHUMG00000182701 uc010eiv.3 AF322648 NM_001007561 CCDS33040 Q8WZA9 16277747 MGI:2667176 RGD:1309409 HGNC:24868 "ENST00000422989.6|NM_001007561.3" @@ -13462,7 +13463,7 @@ HGNC:33315 IRX1P1 iroquois homeobox 1 pseudogene 1 pseudogene pseudogene Approve HGNC:14359 IRX2 iroquois homeobox 2 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 TALE class homeoboxes and pseudogenes 526 2001-07-20 2007-07-13 2023-01-20 153572 ENSG00000170561 OTTHUMG00000090377 uc003jda.4 AF319967 NM_001134222 CCDS3868 Q9BZI1 11435706 MGI:1197526 RGD:1309834 606198 8447 460697 HGNC:14359 "ENST00000302057.6|NM_033267.5" HGNC:24226 IRX2-DT IRX2 divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 "CEI|IRX2NB" "coordinated expression to IRX2|IRX2 neighbor" C5orf38 chromosome 5 open reading frame 38 Divergent transcripts 1990 2007-02-19 2022-05-25 2022-05-25 2023-03-15 153571 ENSG00000186493 OTTHUMG00000161741 uc003jdc.3 AY249324 NR_122125 Q86SI9 "16750006|16515847" 610522 HGNC:24226 HGNC:14360 IRX3 iroquois homeobox 3 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 IRX-1 TALE class homeoboxes and pseudogenes 526 2001-02-27 2007-07-13 2023-01-20 79191 ENSG00000177508 OTTHUMG00000133200 uc002eht.2 U90308 NM_024336 CCDS10750 P78415 MGI:1197522 RGD:1307424 612985 8410 HGNC:14360 "ENST00000329734.4|NM_024336.3" -HGNC:6129 IRX4 iroquois homeobox 4 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 iroquois homeobox protein 4 TALE class homeoboxes and pseudogenes 526 2000-06-09 2007-07-13 2023-01-20 50805 ENSG00000113430 OTTHUMG00000090411 uc031sir.2 AF124733 NM_016358 "CCDS75225|CCDS3867" P78413 10625552 MGI:1355275 RGD:1309309 606199 8448 470520 HGNC:6129 "ENST00000231357.7|NM_016358.3" HGNC:6129 +HGNC:6129 IRX4 iroquois homeobox 4 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 iroquois homeobox protein 4 TALE class homeoboxes and pseudogenes 526 2000-06-09 2007-07-13 2023-01-20 50805 ENSG00000113430 OTTHUMG00000090411 uc031sir.2 AF124733 NM_016358 "CCDS3867|CCDS75225" P78413 10625552 MGI:1355275 RGD:1309309 606199 8448 470520 HGNC:6129 "ENST00000231357.7|NM_016358.3" HGNC:6129 HGNC:40305 IRX4-AS1 IRX4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Antisense RNAs 1987 2019-08-14 2019-08-14 101929056 ENSG00000249116 OTTHUMG00000161602 NR_183257 HGNC:40305 HGNC:33316 IRX4P1 iroquois homeobox 4 pseudogene 1 pseudogene pseudogene Approved 18p11.22 18p11.22 TALE class homeoboxes and pseudogenes 526 2007-02-07 2020-04-06 100009671 NG_056815 1973146 8592 HGNC:33316 HGNC:14361 IRX5 iroquois homeobox 5 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 IRX-2a TALE class homeoboxes and pseudogenes 526 2001-02-27 2007-07-13 2023-01-20 10265 ENSG00000176842 OTTHUMG00000133201 uc002ehv.4 U90309 NM_001252197 "CCDS58462|CCDS10751" P78411 MGI:1859086 RGD:1565518 606195 8449 317747 HGNC:14361 "ENST00000394636.9|NM_005853.6" HGNC:14361 @@ -13490,13 +13491,13 @@ HGNC:16213 ISM1 isthmin 1 protein-coding gene gene with protein product Approved HGNC:44313 ISM1-AS1 ISM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.1 20p12.1 ISM1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-09 2012-08-15 2012-10-12 100505536 ENSG00000226263 OTTHUMG00000031900 uc002wof.3 "BC038745|BX092222|DB453950" NR_040043 ISM1-AS1 HGNC:44313 HGNC:23176 ISM2 isthmin 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ32147|TAIL1" thrombospondin and AMOP containing isthmin-like 1 THSD3 "thrombospondin, type I domain-containing 3|thrombospondin, type I, domain containing 3|isthmin 2 homolog (zebrafish)" Isthmin family 2232 2003-09-29 2008-12-23 2013-05-15 2023-03-15 145501 ENSG00000100593 OTTHUMG00000158563 uc001xtz.4 AK056709 NM_182509 "CCDS45143|CCDS9864" Q6H9L7 15194193 MGI:2685110 RGD:1589343 612684 HGNC:23176 "ENST00000342219.9|NM_199296.3" HGNC:24254 ISOC1 isochorismatase domain containing 1 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 CGI-111 MicroRNA protein coding host genes 1691 2005-02-07 2023-01-20 51015 ENSG00000066583 OTTHUMG00000163144 uc003kva.4 AF151869 NM_016048 CCDS43357 Q96CN7 "10810093|18566572" MGI:1913557 RGD:1307632 HGNC:24254 "ENST00000173527.6|NM_016048.2" -HGNC:26278 ISOC2 isochorismatase domain containing 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 FLJ23469 2005-02-07 2023-01-20 79763 ENSG00000063241 OTTHUMG00000180830 uc002qla.4 AK027122 NM_024710 "CCDS46195|CCDS12925|CCDS46194" Q96AB3 17658461 "MGI:1914691|MGI:3609243" RGD:1309062 612928 HGNC:26278 "ENST00000425675.7|NM_001136201.2" -HGNC:28977 IST1 IST1 factor associated with ESCRT-III protein-coding gene gene with protein product Approved 16q22.2 16q22.2 CHMP8 IST1, endosomal sorting complex required for transport-III component KIAA0174 "KIAA0174|increased sodium tolerance 1 homolog (yeast)|IST1, ESCRT-III associated factor" ESCRT-III associated factors 1119 2005-07-14 2011-08-18 2019-01-31 2023-01-20 9798 ENSG00000182149 OTTHUMG00000137597 uc059wws.1 BC004359 NM_014761 "CCDS59274|CCDS10905|CCDS59271|CCDS59272|CCDS59273" P53990 "8724849|19129480" MGI:1919205 RGD:1307799 616434 HGNC:28977 "ENST00000378799.11|NM_001270975.2" +HGNC:26278 ISOC2 isochorismatase domain containing 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 FLJ23469 2005-02-07 2023-01-20 79763 ENSG00000063241 OTTHUMG00000180830 uc002qla.4 AK027122 NM_024710 "CCDS46195|CCDS46194|CCDS12925" Q96AB3 17658461 "MGI:1914691|MGI:3609243" RGD:1309062 612928 HGNC:26278 "ENST00000425675.7|NM_001136201.2" +HGNC:28977 IST1 IST1 factor associated with ESCRT-III protein-coding gene gene with protein product Approved 16q22.2 16q22.2 CHMP8 IST1, endosomal sorting complex required for transport-III component KIAA0174 "KIAA0174|increased sodium tolerance 1 homolog (yeast)|IST1, ESCRT-III associated factor" ESCRT-III associated factors 1119 2005-07-14 2011-08-18 2019-01-31 2023-01-20 9798 ENSG00000182149 OTTHUMG00000137597 uc059wws.1 BC004359 NM_014761 "CCDS10905|CCDS59272|CCDS59273|CCDS59274|CCDS59271" P53990 "8724849|19129480" MGI:1919205 RGD:1307799 616434 HGNC:28977 "ENST00000378799.11|NM_001270975.2" HGNC:28084 ISX intestine specific homeobox protein-coding gene gene with protein product Approved 22q12.3 22q12.3 RAXLX intestine-specific homeobox PRD class homeoboxes and pseudogenes 521 2006-08-08 2016-01-18 2023-01-20 91464 ENSG00000175329 OTTHUMG00000150962 uc003anj.4 AK025181 NM_001008494 CCDS33640 Q2M1V0 MGI:1918847 RGD:1592776 612019 8378 HGNC:28084 "ENST00000404699.7|NM_001303508.2" HGNC:29201 ISY1 ISY1 splicing factor homolog protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "KIAA1160|fSAP33" functional spliceosome-associated protein 33 ISY1 splicing factor homolog (S. cerevisiae) "Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1507|1508|1510|1516" 2007-01-18 2015-07-03 2023-01-20 57461 ENSG00000240682 OTTHUMG00000137365 uc003elp.3 NM_020701 "CCDS56277|CCDS43149" Q9ULR0 16103217 MGI:1923310 RGD:1307688 612764 HGNC:29201 "ENST00000393295.8|NM_020701.4" HGNC:42969 ISY1-RAB43 ISY1-RAB43 readthrough other readthrough Approved 3q21.3 03q21.3 2011-09-27 2011-09-27 2023-03-15 100534599 ENSG00000261796 OTTHUMG00000177122 uc003elo.3 NM_001204890 MGI:1923310 HGNC:42969 -HGNC:29821 ISYNA1 inositol-3-phosphate synthase 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "Ino1|INOS|IPS" myo-inositol 1-phosphate synthase 2008-09-15 2023-03-15 51477 ENSG00000105655 OTTHUMG00000179027 uc002njd.2 NM_016368 "CCDS62603|CCDS12379|CCDS54234" Q9NPH2 "15024000|12941308" MGI:1919030 RGD:1359423 611670 5.5.1.4 HGNC:29821 "ENST00000338128.13|NM_016368.5" -HGNC:13890 ITCH itchy E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 AIP4 "itchy (mouse homolog) E3 ubiquitin protein ligase|itchy E3 ubiquitin protein ligase homolog (mouse)" "C2 domain containing|MicroRNA protein coding host genes|HECT domain containing" "823|1691|1959" 2001-04-27 2012-02-23 2023-01-20 83737 ENSG00000078747 OTTHUMG00000032300 uc002xak.3 AF095745 NM_001257137 "CCDS13234|CCDS58768|CCDS58769" Q96J02 11318614 MGI:1202301 RGD:1359556 LRG_354|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_354.xml 606409 232245 HGNC:13890 "ENST00000374864.10|NM_031483.7" HGNC:13890 +HGNC:29821 ISYNA1 inositol-3-phosphate synthase 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "Ino1|INOS|IPS" myo-inositol 1-phosphate synthase 2008-09-15 2023-03-15 51477 ENSG00000105655 OTTHUMG00000179027 uc002njd.2 NM_016368 "CCDS54234|CCDS12379|CCDS62603" Q9NPH2 "15024000|12941308" MGI:1919030 RGD:1359423 611670 5.5.1.4 HGNC:29821 "ENST00000338128.13|NM_016368.5" +HGNC:13890 ITCH itchy E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 AIP4 "itchy (mouse homolog) E3 ubiquitin protein ligase|itchy E3 ubiquitin protein ligase homolog (mouse)" "C2 domain containing|MicroRNA protein coding host genes|HECT domain containing" "823|1691|1959" 2001-04-27 2012-02-23 2023-01-20 83737 ENSG00000078747 OTTHUMG00000032300 uc002xak.3 AF095745 NM_001257137 "CCDS13234|CCDS58769|CCDS58768" Q96J02 11318614 MGI:1202301 RGD:1359556 LRG_354|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_354.xml 606409 232245 HGNC:13890 "ENST00000374864.10|NM_031483.7" HGNC:13890 HGNC:40659 ITCH-AS1 ITCH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 ITCH antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 106480737 ENSG00000236388 OTTHUMG00000032298 uc061wis.1 ITCH-AS1 HGNC:41397 ITCH-IT1 ITCH intronic transcript 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 ITCH intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874302 ENSG00000231795 OTTHUMG00000046196 uc061wiu.1 ITCH-IT1 HGNC:30697 ITFG1 integrin alpha FG-GAP repeat containing 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "CDA08|TIP|LNKN-1" "T cell immunomodulatory protein|LINKIN" 2006-03-06 2023-01-20 81533 ENSG00000129636 OTTHUMG00000133103 uc002eet.4 AF503339 NM_030790 "CCDS76862|CCDS10728" Q8TB96 "12598909|25437307" MGI:106419 RGD:619898 611803 HGNC:30697 "ENST00000320640.11|NM_030790.5" @@ -13508,91 +13509,91 @@ HGNC:6137 ITGA2 integrin subunit alpha 2 protein-coding gene gene with protein p HGNC:40306 ITGA2-AS1 ITGA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 I2ALR ITGA2 Antisense LncRNA Antisense RNAs 1987 2021-04-12 2022-04-29 121232372 ENSG00000249899 OTTHUMG00000162173 35098437 HGNC:6138 ITGA2B integrin subunit alpha 2b protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CD41B|CD41|PPP1R93|GPIIb" "protein phosphatase 1, regulatory subunit 93|platelet glycoprotein IIb of IIb/IIIa complex|Integrin alpha-IIb" GP2B "integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)|integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)" "CD molecules|Protein phosphatase 1 regulatory subunits|Integrin alpha subunits" "471|694|1160" 1986-01-01 2015-12-15 2023-01-20 3674 ENSG00000005961 OTTHUMG00000177935 uc002igt.2 NM_000419 CCDS32665 P08514 "2018971|21917754" MGI:96601 RGD:1596428 LRG_479|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_479.xml 607759 122690 objectId:2441 CD41 HGNC:6138 "ENST00000262407.6|NM_000419.5" HGNC:6138 HGNC:6139 ITGA3 integrin subunit alpha 3 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "CD49c|VLA3a|VCA-2|GAP-B3" "alpha 3 subunit of VLA-3 receptor|antigen CD49C|galactoprotein b3|very late activation receptor subunit alpha-3" MSK18 "antigen identified by monoclonal antibody J143|integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)" "CD molecules|Integrin alpha subunits" "471|1160" 1992-02-27 2015-12-15 2023-03-15 3675 ENSG00000005884 OTTHUMG00000161890 uc010dbl.4 M59911 NM_005501 CCDS11558 P26006 "1655803|9704023|26854491" MGI:96602 RGD:1310333 605025 311039 objectId:2442 CD49c HGNC:6139 "ENST00000320031.13|NM_002204.4" HGNC:6139 -HGNC:6140 ITGA4 integrin subunit alpha 4 protein-coding gene gene with protein product Approved 2q31.3 02q31.3 CD49d "antigen CD49D|alpha 4 subunit of VLA-4 receptor" CD49D integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) "CD molecules|Integrin alpha subunits" "471|1160" 1991-08-06 2015-12-15 2023-01-20 3676 ENSG00000115232 OTTHUMG00000154212 uc002unu.4 NM_000885 "CCDS82540|CCDS42788" P13612 1537388 MGI:96603 RGD:1593249 192975 objectId:2443 CD49d HGNC:6140 "ENST00000397033.7|NM_000885.6" +HGNC:6140 ITGA4 integrin subunit alpha 4 protein-coding gene gene with protein product Approved 2q31.3 02q31.3 CD49d "antigen CD49D|alpha 4 subunit of VLA-4 receptor" CD49D integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) "CD molecules|Integrin alpha subunits" "471|1160" 1991-08-06 2015-12-15 2023-01-20 3676 ENSG00000115232 OTTHUMG00000154212 uc002unu.4 NM_000885 "CCDS42788|CCDS82540" P13612 1537388 MGI:96603 RGD:1593249 192975 objectId:2443 CD49d HGNC:6140 "ENST00000397033.7|NM_000885.6" HGNC:6141 ITGA5 integrin subunit alpha 5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 CD49e fibronectin receptor, alpha polypeptide FNRA integrin, alpha 5 (fibronectin receptor, alpha polypeptide) "CD molecules|Integrin alpha subunits" "471|1160" 1988-07-19 2015-12-15 2023-01-20 3678 ENSG00000161638 OTTHUMG00000169841 uc001sga.4 NM_002205 CCDS8880 P08648 2454952 MGI:96604 RGD:2925 135620 objectId:2444 CD49e HGNC:6141 "ENST00000293379.9|NM_002205.5" HGNC:6142 ITGA6 integrin subunit alpha 6 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "CD49f|VLA-6|ITGA6A|ITGA6B" very late activation protein 6 integrin, alpha 6 "CD molecules|Integrin alpha subunits" "471|1160" 1991-08-06 2015-12-15 2023-01-20 3655 ENSG00000091409 OTTHUMG00000132277 uc002uho.2 NM_000210 P23229 "1976638|2070796|27607025" MGI:96605 RGD:621633 147556 122695 objectId:2445 CD49f HGNC:6142 "ENST00000684293.1|NM_000210.4" HGNC:6142 HGNC:40308 ITGA6-AS1 ITGA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 AC078883.3 Antisense RNAs 1987 2018-07-04 2022-12-12 101929947 ENSG00000232788 OTTHUMG00000154089 NR_157573 "29959764|36212156" HGNC:40308 -HGNC:6143 ITGA7 integrin subunit alpha 7 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 integrin, alpha 7 Integrin alpha subunits 1160 1992-02-27 2015-12-15 2023-01-20 3679 ENSG00000135424 OTTHUMG00000170699 uc001shg.4 NM_002206 "CCDS91703|CCDS44914|CCDS55832|CCDS8888|CCDS91704" Q13683 "7607681|10403775|9590299" MGI:102700 RGD:71022 LRG_871|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_871.xml 600536 166720 objectId:2446 HGNC:6143 "ENST00000257879.11|NM_002206.3" HGNC:6143 +HGNC:6143 ITGA7 integrin subunit alpha 7 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 integrin, alpha 7 Integrin alpha subunits 1160 1992-02-27 2015-12-15 2023-01-20 3679 ENSG00000135424 OTTHUMG00000170699 uc001shg.4 NM_002206 "CCDS8888|CCDS91704|CCDS91703|CCDS55832|CCDS44914" Q13683 "7607681|10403775|9590299" MGI:102700 RGD:71022 LRG_871|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_871.xml 600536 166720 objectId:2446 HGNC:6143 "ENST00000257879.11|NM_002206.3" HGNC:6143 HGNC:6144 ITGA8 integrin subunit alpha 8 protein-coding gene gene with protein product Approved 10p13 10p13 integrin, alpha 8 Integrin alpha subunits 1160 1998-10-01 2015-12-15 2023-01-20 8516 ENSG00000077943 OTTHUMG00000017733 uc001ioc.2 L36531 NM_003638 CCDS31155 P53708 "7768999|24439109" MGI:109442 RGD:621634 604063 395065 objectId:2447 HGNC:6144 "ENST00000378076.4|NM_003638.3" HGNC:6144 HGNC:6145 ITGA9 integrin subunit alpha 9 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "RLC|ITGA4L|ALPHA-RLC" integrin, alpha 4-like integrin, alpha 9 Integrin alpha subunits 1160 1994-05-12 2015-12-15 2023-01-20 3680 ENSG00000144668 OTTHUMG00000130815 uc003chd.4 L24158 NM_002207 CCDS2669 Q13797 "8245132|8290272" MGI:104756 RGD:1311191 603963 objectId:2448 HGNC:6145 "ENST00000264741.10|NM_002207.3" HGNC:49668 ITGA9-AS1 ITGA9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.2 03p22.2 Antisense RNAs 1987 2014-02-03 2020-04-20 101928153 ENSG00000235257 OTTHUMG00000155924 BC040563 NR_110531 ITGA9-AS1 HGNC:49668 -HGNC:6135 ITGA10 integrin subunit alpha 10 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 integrin, alpha 10 Integrin alpha subunits 1160 1998-10-01 2015-12-15 2023-01-20 8515 ENSG00000143127 OTTHUMG00000013751 uc001eoa.4 AF074015 NM_003637 "CCDS72869|CCDS76204" O75578 "9685391|10702680" MGI:2153482 RGD:1305152 604042 objectId:2438 HGNC:6135 "ENST00000369304.8|NM_003637.5" +HGNC:6135 ITGA10 integrin subunit alpha 10 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 integrin, alpha 10 Integrin alpha subunits 1160 1998-10-01 2015-12-15 2023-01-20 8515 ENSG00000143127 OTTHUMG00000013751 uc001eoa.4 AF074015 NM_003637 "CCDS76204|CCDS72869" O75578 "9685391|10702680" MGI:2153482 RGD:1305152 604042 objectId:2438 HGNC:6135 "ENST00000369304.8|NM_003637.5" HGNC:6136 ITGA11 integrin subunit alpha 11 protein-coding gene gene with protein product Approved 15q23 15q23 HsT18964 integrin, alpha 11 Integrin alpha subunits 1160 1998-10-01 2015-12-15 2023-01-20 22801 ENSG00000137809 OTTHUMG00000172657 uc002ari.4 AF109681 NM_012211 CCDS45291 Q9UKX5 10486209 MGI:2442114 RGD:1311711 604789 objectId:2439 HGNC:6136 "ENST00000315757.9|NM_001004439.2" HGNC:6146 ITGAD integrin subunit alpha D protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "CD11d|ADB2" integrin, alpha D "CD molecules|Integrin alpha subunits" "471|1160" 1997-06-09 2015-12-15 2023-01-20 3681 ENSG00000156886 OTTHUMG00000176614 uc002ebv.1 U40274 NM_005353 CCDS32438 Q13349 "8666289|9598326" MGI:3578624 RGD:71075 602453 objectId:2449 CD11d HGNC:6146 "ENST00000389202.3|NM_005353.3" HGNC:6147 ITGAE integrin subunit alpha E protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "CD103|HUMINAE" "antigen CD103|human mucosal lymphocyte antigen 1, alpha polypeptide" integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) "CD molecules|Integrin alpha subunits" "471|1160" 1997-06-09 2015-12-15 2023-01-20 3682 ENSG00000083457 OTTHUMG00000177634 uc002fwo.5 L25851 NM_002208 CCDS32531 P38570 8119947 MGI:1298377 RGD:621644 604682 objectId:2450 CD103 HGNC:6147 "ENST00000263087.9|NM_002208.5" -HGNC:6148 ITGAL integrin subunit alpha L protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "LFA-1|LFA1A" "antigen CD11A (p180)|lymphocyte function-associated antigen 1, alpha polypeptide" CD11A integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) "CD molecules|Integrin alpha subunits|MicroRNA protein coding host genes" "471|1160|1691" 1986-01-01 2015-12-15 2023-01-20 3683 ENSG00000005844 OTTHUMG00000176964 uc002dyi.5 NM_001114380 "CCDS32433|CCDS45461" P20701 3284962 MGI:96606 RGD:631424 153370 objectId:2451 CD11a HGNC:6148 "ENST00000356798.11|NM_002209.3" +HGNC:6148 ITGAL integrin subunit alpha L protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "LFA-1|LFA1A" "antigen CD11A (p180)|lymphocyte function-associated antigen 1, alpha polypeptide" CD11A integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) "CD molecules|Integrin alpha subunits|MicroRNA protein coding host genes" "471|1160|1691" 1986-01-01 2015-12-15 2023-01-20 3683 ENSG00000005844 OTTHUMG00000176964 uc002dyi.5 NM_001114380 "CCDS45461|CCDS32433" P20701 3284962 MGI:96606 RGD:631424 153370 objectId:2451 CD11a HGNC:6148 "ENST00000356798.11|NM_002209.3" HGNC:56737 ITGAL-AS1 ITGAL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 RP11-279C4.1 Antisense RNAs 1987 2023-02-01 2023-02-01 128667228 ENSG00000261332 33694060 HGNC:6149 ITGAM integrin subunit alpha M protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "MAC-1|CD11b" "complement component 3 receptor 3 subunit|macrophage-1 antigen alpha subunit" "CR3A|CD11B" "integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)|integrin, alpha M (complement component 3 receptor 3 subunit)" "CD molecules|Integrin alpha subunits|Complement system regulators and receptors" "471|1160|1639" 1988-08-05 2015-12-15 2023-01-20 3684 ENSG00000169896 OTTHUMG00000176612 uc002ebq.4 J03925 NM_000632 "CCDS45470|CCDS54004" P11215 MGI:96607 RGD:2926 LRG_1333|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1333.xml 120980 358399 objectId:2452 CD11b HGNC:6149 "ENST00000544665.9|NM_000632.4" -HGNC:6150 ITGAV integrin subunit alpha V protein-coding gene gene with protein product Approved 2q32.1 02q32.1 CD51 "VNRA|MSK8|VTNR" "antigen identified by monoclonal antibody L230|vitronectin receptor|integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)|integrin, alpha V" "CD molecules|Integrin alpha subunits" "471|1160" 1988-07-19 2015-12-15 2023-01-20 3685 ENSG00000138448 OTTHUMG00000132635 uc002upq.5 NM_002210 "CCDS2292|CCDS46470|CCDS46471" P06756 2454952 MGI:96608 RGD:1310613 193210 objectId:2453 CD51 HGNC:6150 "ENST00000261023.8|NM_002210.5" +HGNC:6150 ITGAV integrin subunit alpha V protein-coding gene gene with protein product Approved 2q32.1 02q32.1 CD51 "VNRA|MSK8|VTNR" "antigen identified by monoclonal antibody L230|vitronectin receptor|integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)|integrin, alpha V" "CD molecules|Integrin alpha subunits" "471|1160" 1988-07-19 2015-12-15 2023-01-20 3685 ENSG00000138448 OTTHUMG00000132635 uc002upq.5 NM_002210 "CCDS46470|CCDS46471|CCDS2292" P06756 2454952 MGI:96608 RGD:1310613 193210 objectId:2453 CD51 HGNC:6150 "ENST00000261023.8|NM_002210.5" HGNC:6152 ITGAX integrin subunit alpha X protein-coding gene gene with protein product Approved 16p11.2 16p11.2 CD11c complement component 3 receptor 4 subunit CD11C "integrin, alpha X (antigen CD11C (p150), alpha polypeptide)|integrin, alpha X (complement component 3 receptor 4 subunit)" "CD molecules|Integrin alpha subunits|Complement system regulators and receptors" "471|1160|1639" 1988-08-15 2015-12-15 2023-01-20 3687 ENSG00000140678 OTTHUMG00000132465 uc002ebu.2 BC038237 NM_000887 "CCDS10711|CCDS67014" P20702 "3284962|2303426" MGI:96609 RGD:1561123 151510 470524 objectId:2454 CD11c HGNC:6152 "ENST00000268296.9|NM_000887.5" HGNC:6153 ITGB1 integrin subunit beta 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "CD29|GPIIA" "FNRB|MSK12|MDF2" integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) "CD molecules|Integrin beta subunits" "471|1159" 1988-06-27 2015-12-15 2023-03-15 3688 ENSG00000150093 OTTHUMG00000017928 uc001iwt.5 BC020057 NM_002211 CCDS7174 P05556 2524991 MGI:96610 RGD:2927 135630 objectId:2455 CD29 HGNC:6153 "ENST00000302278.8|NM_002211.4" HGNC:53718 ITGB1-DT ITGB1 divergent transcript non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 LincIN long intergenic non-coding RNA between ITGB1 and NRP1 Divergent transcripts 1990 2017-09-01 2023-02-01 101929475 ENSG00000229656 OTTHUMG00000017934 NR_184020 28558830 HGNC:53718 -HGNC:23927 ITGB1BP1 integrin subunit beta 1 binding protein 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "ICAP-1A|ICAP-1B|ICAP1|ICAP1A|ICAP1B|ICAP-1alpha" "integrin cytoplasmic domain-associated protein 1|integrin cytoplasmic domain-associated protein 1-beta|integrin cytoplasmic domain-associated protein 1-alpha|bodenin" integrin beta 1 binding protein 1 2003-12-15 2015-12-15 2023-01-20 9270 ENSG00000119185 OTTHUMG00000090414 uc061gmv.1 AF012023 "NM_004763|NM_022334" "CCDS1663|CCDS1662" O14713 "11854171|9281591" MGI:1306802 RGD:1307810 607153 HGNC:23927 "ENST00000355346.9|NM_004763.5" +HGNC:23927 ITGB1BP1 integrin subunit beta 1 binding protein 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "ICAP-1A|ICAP-1B|ICAP1|ICAP1A|ICAP1B|ICAP-1alpha" "integrin cytoplasmic domain-associated protein 1|integrin cytoplasmic domain-associated protein 1-beta|integrin cytoplasmic domain-associated protein 1-alpha|bodenin" integrin beta 1 binding protein 1 2003-12-15 2015-12-15 2023-01-20 9270 ENSG00000119185 OTTHUMG00000090414 uc061gmv.1 AF012023 "NM_004763|NM_022334" "CCDS1662|CCDS1663" O14713 "11854171|9281591" MGI:1306802 RGD:1307810 607153 HGNC:23927 "ENST00000355346.9|NM_004763.5" HGNC:6154 ITGB1BP2 integrin subunit beta 1 binding protein 2 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 CHORDC3 melusin integrin beta 1 binding protein 2 2000-02-11 2015-12-15 2023-01-20 26548 ENSG00000147166 OTTHUMG00000021793 uc004dzr.2 AF140690 NM_012278 CCDS14411 Q9UKP3 10506186 MGI:1353420 RGD:1565015 300332 HGNC:6154 "ENST00000373829.8|NM_012278.4" HGNC:3781 ITGB1P1 integrin subunit beta 1 pseudogene 1 pseudogene pseudogene Approved 19p13.12 19p13.12 ITGB1L FNRBL "fibronectin receptor, beta polypeptide-like|integrin beta 1 pseudogene 1" 1989-05-19 2010-10-13 2015-12-15 2020-04-07 100422691 ENSG00000269378 OTTHUMG00000183370 NG_024150 1979054 PGOHUM00000234172 HGNC:3781 HGNC:6155 ITGB2 integrin subunit beta 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "LFA-1|MAC-1" complement component 3 receptor 3 and 4 subunit "CD18|MFI7" "integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)|integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)" "CD molecules|Integrin beta subunits|Complement system regulators and receptors" "471|1159|1639" 1986-01-01 2015-12-15 2023-01-20 3689 ENSG00000160255 OTTHUMG00000090257 uc002zgf.5 AK222505 NM_000211 CCDS13716 P05107 "3073708|20549317" MGI:96611 RGD:1305581 "ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I)|http://structure.bmc.lu.se/idbase/ITGB2base/|LRG_76|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_76.xml" 600065 122698 objectId:2456 CD18 HGNC:6155 "ENST00000652462.1|NM_000211.5" HGNC:6155 HGNC:44304 ITGB2-AS1 ITGB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 ITGB2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-08 2012-08-15 2012-10-12 100505746 ENSG00000227039 OTTHUMG00000090253 uc021wjv.2 "BC040064|BC051807" NR_038311 ITGB2-AS1 HGNC:44304 HGNC:6156 ITGB3 integrin subunit beta 3 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "CD61|GPIIIa" "platelet glycoprotein IIIa|antigen CD61" GP3A integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) "CD molecules|Integrin beta subunits" "471|1159" 1988-06-09 2015-12-15 2023-01-20 3690 ENSG00000259207 OTTHUMG00000171956 uc002ilj.4 NM_000212 CCDS11511 P05106 "2454952|21917754|2018971" MGI:96612 RGD:628868 LRG_481|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_481.xml 173470 122704 objectId:2457 CD61 HGNC:6156 "ENST00000559488.7|NM_000212.3" HGNC:6156 HGNC:6157 ITGB3BP integrin subunit beta 3 binding protein protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "NRIF3|HSU37139|TAP20|CENPR" "centromere protein R|beta3-endonexin" integrin beta 3 binding protein (beta3-endonexin) Constitutive centromere associated network 1576 2000-05-08 2015-12-15 2023-01-20 23421 ENSG00000142856 OTTHUMG00000013364 uc001dba.3 U37139 NM_014288 "CCDS55603|CCDS30736" Q13352 "7593198|10490654" MGI:1914983 RGD:1310044 605494 HGNC:6157 "ENST00000271002.15|NM_014288.5" -HGNC:6158 ITGB4 integrin subunit beta 4 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 CD104 integrin, beta 4 "CD molecules|Fibronectin type III domain containing|Integrin beta subunits" "471|555|1159" 1991-08-06 2015-12-15 2023-01-20 3691 ENSG00000132470 OTTHUMG00000179814 uc002jpj.4 NM_000213 "CCDS32736|CCDS11727|CCDS58599" P16144 "2070796|9182827" MGI:96613 RGD:2928 147557 122708 objectId:2458 CD104 HGNC:6158 "ENST00000200181.8|NM_000213.5" HGNC:6158 +HGNC:6158 ITGB4 integrin subunit beta 4 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 CD104 integrin, beta 4 "CD molecules|Fibronectin type III domain containing|Integrin beta subunits" "471|555|1159" 1991-08-06 2015-12-15 2023-01-20 3691 ENSG00000132470 OTTHUMG00000179814 uc002jpj.4 NM_000213 "CCDS11727|CCDS58599|CCDS32736" P16144 "2070796|9182827" MGI:96613 RGD:2928 147557 122708 objectId:2458 CD104 HGNC:6158 "ENST00000200181.8|NM_000213.5" HGNC:6158 HGNC:6160 ITGB5 integrin subunit beta 5 protein-coding gene gene with protein product Approved 3q21.2 03q21.2 integrin, beta 5 Integrin beta subunits 1159 1991-07-30 2015-12-15 2023-01-20 3693 ENSG00000082781 OTTHUMG00000159432 uc003eho.4 J05633 NM_002213 CCDS3030 P18084 2211615 MGI:96614 RGD:628869 147561 objectId:2459 HGNC:6160 "ENST00000296181.9|NM_002213.5" HGNC:40309 ITGB5-AS1 ITGB5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.2 03q21.2 ITGB5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873992 ENSG00000244286 OTTHUMG00000159559 uc062nfr.1 ITGB5-AS1 -HGNC:6161 ITGB6 integrin subunit beta 6 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 integrin, beta 6 Integrin beta subunits 1159 1992-02-14 2015-12-15 2023-01-20 3694 ENSG00000115221 OTTHUMG00000132026 uc010fou.4 NM_000888 "CCDS74596|CCDS2212|CCDS74597|CCDS63040" P18564 "1729173|8120056|24305999" MGI:96615 RGD:1303119 147558 400703 objectId:2460 HGNC:6161 "ENST00000283249.7|NM_000888.5" HGNC:6161 +HGNC:6161 ITGB6 integrin subunit beta 6 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 integrin, beta 6 Integrin beta subunits 1159 1992-02-14 2015-12-15 2023-01-20 3694 ENSG00000115221 OTTHUMG00000132026 uc010fou.4 NM_000888 "CCDS63040|CCDS74597|CCDS74596|CCDS2212" P18564 "1729173|8120056|24305999" MGI:96615 RGD:1303119 147558 400703 objectId:2460 HGNC:6161 "ENST00000283249.7|NM_000888.5" HGNC:6161 HGNC:6162 ITGB7 integrin subunit beta 7 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 integrin, beta 7 Integrin beta subunits 1159 1991-10-07 2015-12-15 2023-01-20 3695 ENSG00000139626 OTTHUMG00000169775 uc001scc.4 NM_000889 CCDS8849 P26010 2040616 MGI:96616 RGD:2929 147559 objectId:2461 HGNC:6162 "ENST00000267082.10|NM_000889.3" HGNC:6163 ITGB8 integrin subunit beta 8 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 integrin, beta 8 Integrin beta subunits 1159 1992-10-06 2015-12-15 2023-01-20 3696 ENSG00000105855 OTTHUMG00000023594 uc003suu.4 NM_002214 CCDS5370 P26012 1918072 MGI:1338035 RGD:1311374 604160 objectId:2462 HGNC:6163 "ENST00000222573.5|NM_002214.3" HGNC:55257 ITGB8-AS1 ITGB8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p21.1 07p21.1 Antisense RNAs 1987 2020-09-25 2020-09-25 101927811 ENSG00000271133 NR_110119 -HGNC:6164 ITGBL1 integrin subunit beta like 1 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 "TIED|OSCP" "ten integrin EGF-like repeat domains protein|ITGBL1, integrin beta-like 1" integrin, beta-like 1 (with EGF-like repeat domains) Integrin beta subunits 1159 1998-11-30 2015-12-15 2023-01-20 9358 ENSG00000198542 OTTHUMG00000017296 uc001vpb.5 AF072752 NM_004791 "CCDS73594|CCDS61361|CCDS9499|CCDS61362" O95965 10051402 MGI:2443439 RGD:1560635 604234 HGNC:6164 "ENST00000376180.8|NM_004791.3" +HGNC:6164 ITGBL1 integrin subunit beta like 1 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 "TIED|OSCP" "ten integrin EGF-like repeat domains protein|ITGBL1, integrin beta-like 1" integrin, beta-like 1 (with EGF-like repeat domains) Integrin beta subunits 1159 1998-11-30 2015-12-15 2023-01-20 9358 ENSG00000198542 OTTHUMG00000017296 uc001vpb.5 AF072752 NM_004791 "CCDS61362|CCDS61361|CCDS9499|CCDS73594" O95965 10051402 MGI:2443439 RGD:1560635 604234 HGNC:6164 "ENST00000376180.8|NM_004791.3" HGNC:6166 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "H1P|IATIH|ITIH" inter-alpha (globulin) inhibitor, H1 polypeptide Inter-alpha-trypsin inhibitor heavy chains 1840 1989-05-10 2011-10-26 2023-01-20 3697 ENSG00000055957 OTTHUMG00000150312 uc003dfs.4 NM_002215 "CCDS54595|CCDS2864" P19827 "1385302|10100603" MGI:96618 RGD:1306099 147270 HGNC:6166 "ENST00000273283.7|NM_002215.4" HGNC:6167 ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 protein-coding gene gene with protein product Approved 10p14 10p14 H2P inter-alpha (globulin) inhibitor, H2 polypeptide "Gla domain containing|Inter-alpha-trypsin inhibitor heavy chains" "1250|1840" 1989-05-10 2011-10-26 2023-01-20 3698 ENSG00000151655 OTTHUMG00000017633 uc001ijs.4 X07173 NM_002216 CCDS31141 P19823 "1385302|10100603" MGI:96619 RGD:1565426 146640 HGNC:6167 "ENST00000358415.9|NM_002216.3" -HGNC:6168 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 H3P "pre-alpha (globulin) inhibitor, H3 polypeptide|inter-alpha-trypsin inhibitor heavy chain H3" "inter-alpha (globulin) inhibitor, H3 polypeptide|inter-alpha (globulin) inhibitor H3" Inter-alpha-trypsin inhibitor heavy chains 1840 1989-05-10 2011-10-26 2023-01-20 3699 ENSG00000162267 OTTHUMG00000158956 uc003dfv.3 NM_002217 "CCDS93288|CCDS93287|CCDS46845" Q06033 "2465147|10100603" MGI:96620 RGD:620633 146650 HGNC:6168 "ENST00000449956.3|NM_002217.4" +HGNC:6168 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 H3P "pre-alpha (globulin) inhibitor, H3 polypeptide|inter-alpha-trypsin inhibitor heavy chain H3" "inter-alpha (globulin) inhibitor, H3 polypeptide|inter-alpha (globulin) inhibitor H3" Inter-alpha-trypsin inhibitor heavy chains 1840 1989-05-10 2011-10-26 2023-01-20 3699 ENSG00000162267 OTTHUMG00000158956 uc003dfv.3 NM_002217 "CCDS93287|CCDS93288|CCDS46845" Q06033 "2465147|10100603" MGI:96620 RGD:620633 146650 HGNC:6168 "ENST00000449956.3|NM_002217.4" HGNC:6169 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "IHRP|H4P" plasma Kallikrein-sensitive glycoprotein ITIHL1 "inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)|inter-alpha-trypsin inhibitor heavy chain family, member 4" Inter-alpha-trypsin inhibitor heavy chains 1840 1995-11-30 2019-03-08 2023-01-20 3700 ENSG00000055955 OTTHUMG00000159023 uc003dfz.4 D38535 NM_002218 "CCDS2865|CCDS54596" Q14624 "9480842|7805892" MGI:109536 RGD:70881 600564 HGNC:6169 "ENST00000266041.9|NM_002218.5" HGNC:40310 ITIH4-AS1 ITIH4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.1 03p21.1 ITIH4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-18 100873993 ENSG00000239799 OTTHUMG00000158983 uc062kqt.1 NR_046615 ITIH4-AS1 HGNC:40310 -HGNC:21449 ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 protein-coding gene gene with protein product Approved 10p14 10p14 MGC10848 "inter-alpha (globulin) inhibitor H5|inter-alpha-trypsin inhibitor heavy chain family, member 5" Inter-alpha-trypsin inhibitor heavy chains 1840 2004-01-28 2019-03-08 2023-03-15 80760 ENSG00000123243 OTTHUMG00000017635 uc031vwl.2 NM_030569 "CCDS31140|CCDS31139" Q86UX2 14744536 MGI:1925751 RGD:1591485 609783 HGNC:21449 "ENST00000397146.7|NM_030569.7" +HGNC:21449 ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 protein-coding gene gene with protein product Approved 10p14 10p14 MGC10848 "inter-alpha (globulin) inhibitor H5|inter-alpha-trypsin inhibitor heavy chain family, member 5" Inter-alpha-trypsin inhibitor heavy chains 1840 2004-01-28 2019-03-08 2023-03-15 80760 ENSG00000123243 OTTHUMG00000017635 uc031vwl.2 NM_030569 "CCDS31139|CCDS31140" Q86UX2 14744536 MGI:1925751 RGD:1591485 609783 HGNC:21449 "ENST00000397146.7|NM_030569.7" HGNC:28907 ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 UNQ6369 ITIH5L "inter-alpha (globulin) inhibitor H5-like|inter-alpha-trypsin inhibitor heavy chain family, member 6" Inter-alpha-trypsin inhibitor heavy chains 1840 2004-08-16 2011-10-26 2015-11-18 2023-01-20 347365 ENSG00000102313 OTTHUMG00000021634 uc004dtj.2 AY358170 NM_198510 CCDS14361 Q6UXX5 12975309 MGI:2685232 RGD:1595851 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ITIH5L HGNC:28907 "ENST00000218436.7|NM_198510.3" HGNC:6171 ITK IL2 inducible T cell kinase protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "EMT|PSCTK2|LYK" "IL2-inducible T-cell kinase|IL2 inducible T-cell kinase" "Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases" "682|741|1457" 1995-12-18 2017-12-06 2023-01-20 3702 ENSG00000113263 OTTHUMG00000130245 uc003lwo.2 D13720 NM_005546 CCDS4336 Q08881 8364206 MGI:96621 RGD:1311618 LRG_189|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_189.xml ITK 186973 244711 objectId:2046 2.7.10.2 HGNC:6171 "ENST00000422843.8|NM_005546.4" HGNC:6171 HGNC:18259 ITLN1 intelectin 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "ITLN|FLJ20022|LFR|HL-1|hIntL" omentin intelectin 1 (galactofuranose binding) 2003-03-14 2016-03-07 2023-01-20 55600 ENSG00000179914 OTTHUMG00000028604 uc001fxc.4 AB036706 NM_017625 CCDS1211 Q8WWA0 "11313366|11181563" MGI:1333831 RGD:1561048 609873 HGNC:18259 "ENST00000326245.4|NM_017625.3" HGNC:20599 ITLN2 intelectin 2 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 HL-2 Fibrinogen C domain containing 554 2003-04-28 2023-01-20 142683 ENSG00000158764 OTTHUMG00000028605 uc001fxd.4 AY065973 NM_080878 CCDS1212 Q8WWU7 11181563 MGI:1333831 609874 HGNC:20599 "ENST00000368029.4|NM_080878.3" -HGNC:6173 ITM2A integral membrane protein 2A protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "BRICD2A|E25A" BRICHOS domain containing 2A BRICHOS domain containing 457 1999-04-15 2023-01-20 9452 ENSG00000078596 OTTHUMG00000021900 uc004edh.4 BC034485 NM_004867 "CCDS55455|CCDS14444" O43736 "9892734|8702637" MGI:107706 RGD:1559423 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ITM2A 300222 395153 HGNC:6173 "ENST00000373298.7|NM_004867.5" +HGNC:6173 ITM2A integral membrane protein 2A protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "BRICD2A|E25A" BRICHOS domain containing 2A BRICHOS domain containing 457 1999-04-15 2023-01-20 9452 ENSG00000078596 OTTHUMG00000021900 uc004edh.4 BC034485 NM_004867 "CCDS14444|CCDS55455" O43736 "9892734|8702637" MGI:107706 RGD:1559423 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ITM2A 300222 395153 HGNC:6173 "ENST00000373298.7|NM_004867.5" HGNC:6174 ITM2B integral membrane protein 2B protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "BRI|E25B|E3-16|BRICD2B|BRI2" BRICHOS domain containing 2B BRICHOS domain containing 457 1999-04-15 2023-01-20 9445 ENSG00000136156 OTTHUMG00000016894 uc001vbz.4 AF092128 NM_021999 CCDS9409 Q9Y287 9795190 MGI:1309517 RGD:620727 LRG_1309|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1309.xml 603904 122711 HGNC:6174 "ENST00000647800.2|NM_021999.5" HGNC:6174 HGNC:20919 ITM2BP1 integral membrane protein 2B pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 HsT33912 ITM2BP integral membrane protein 2B pseudogene 2005-12-20 2010-04-14 2010-04-14 2017-10-26 100420308 ENSG00000266853 OTTHUMG00000179257 NG_026163 PGOHUM00000294026 HGNC:20919 -HGNC:6175 ITM2C integral membrane protein 2C protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "BRI3|E25|hRPC.1050_D_4|ITM3|BRICD2C" BRICHOS domain containing 2C BRICHOS domain containing 457 1999-07-22 2023-01-20 81618 ENSG00000135916 OTTHUMG00000133219 uc002vqz.5 AF038953 NM_030926 "CCDS33396|CCDS2479|CCDS33395|CCDS74665" Q9NQX7 9653160 MGI:1927594 RGD:1309503 609554 HGNC:6175 "ENST00000326427.11|NM_030926.6" -HGNC:6176 ITPA inosine triphosphatase protein-coding gene gene with protein product Approved 20p13 20p13 "HLC14-06-P|dJ794I6.3" nucleoside-triphosphate diphosphatase C20orf37 inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 1986-01-01 2015-12-16 2023-01-20 3704 ENSG00000125877 OTTHUMG00000031738 uc002wid.4 AF026816 NM_033453 "CCDS13051|CCDS46576|CCDS58762" Q9BY32 11278832 MGI:96622 RGD:1589751 147520 284116 3.6.1.9 HGNC:6176 "ENST00000380113.8|NM_033453.4" HGNC:6176 -HGNC:6177 ITPK1 inositol-tetrakisphosphate 1-kinase protein-coding gene gene with protein product Approved 14q32.12 14q32.12 inositol 1,3,4-triphosphate 5/6 kinase 1997-06-12 2011-04-28 2023-01-20 3705 ENSG00000100605 OTTHUMG00000171226 uc001ybg.4 U51336 NM_014216 "CCDS9907|CCDS86425|CCDS45157" Q13572 "8662638|11042108" MGI:2446159 RGD:1595691 601838 2.7.1.134 HGNC:6177 "ENST00000267615.11|NM_014216.6" +HGNC:6175 ITM2C integral membrane protein 2C protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "BRI3|E25|hRPC.1050_D_4|ITM3|BRICD2C" BRICHOS domain containing 2C BRICHOS domain containing 457 1999-07-22 2023-01-20 81618 ENSG00000135916 OTTHUMG00000133219 uc002vqz.5 AF038953 NM_030926 "CCDS74665|CCDS2479|CCDS33396|CCDS33395" Q9NQX7 9653160 MGI:1927594 RGD:1309503 609554 HGNC:6175 "ENST00000326427.11|NM_030926.6" +HGNC:6176 ITPA inosine triphosphatase protein-coding gene gene with protein product Approved 20p13 20p13 "HLC14-06-P|dJ794I6.3" nucleoside-triphosphate diphosphatase C20orf37 inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 1986-01-01 2015-12-16 2023-01-20 3704 ENSG00000125877 OTTHUMG00000031738 uc002wid.4 AF026816 NM_033453 "CCDS58762|CCDS46576|CCDS13051" Q9BY32 11278832 MGI:96622 RGD:1589751 147520 284116 3.6.1.9 HGNC:6176 "ENST00000380113.8|NM_033453.4" HGNC:6176 +HGNC:6177 ITPK1 inositol-tetrakisphosphate 1-kinase protein-coding gene gene with protein product Approved 14q32.12 14q32.12 inositol 1,3,4-triphosphate 5/6 kinase 1997-06-12 2011-04-28 2023-01-20 3705 ENSG00000100605 OTTHUMG00000171226 uc001ybg.4 U51336 NM_014216 "CCDS9907|CCDS45157|CCDS86425" Q13572 "8662638|11042108" MGI:2446159 RGD:1595691 601838 2.7.1.134 HGNC:6177 "ENST00000267615.11|NM_014216.6" HGNC:20132 ITPK1-AS1 ITPK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.12 14q32.12 "C14orf85|NCRNA00203|ITPK1AS|ITPK1-AS" "chromosome 14 open reading frame 85|non-protein coding RNA 203|ITPK1 antisense RNA (non-protein coding)|ITPK1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-01-13 2010-11-25 2012-08-15 2012-10-12 319085 ENSG00000258730 OTTHUMG00000171263 uc001ybi.4 AK024887 NR_002808 ITPK1-AS1 HGNC:20132 HGNC:54951 ITPK1P1 ITPK1 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-05-01 2020-05-01 100421108 ENSG00000237351 NG_026687 HGNC:6178 ITPKA inositol-trisphosphate 3-kinase A protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "IP3KA|IP3-3KA" inositol 1,4,5-trisphosphate 3-kinase A 1992-04-15 2011-04-28 2023-01-20 3706 ENSG00000137825 OTTHUMG00000130343 uc001znz.4 X54938 NM_002220 CCDS10076 P23677 "1330886|2175886" MGI:1333822 RGD:619950 147521 objectId:1447 2.7.1.127 HGNC:6178 "ENST00000260386.7|NM_002220.3" -HGNC:6179 ITPKB inositol-trisphosphate 3-kinase B protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "IP3KB|IP3-3KB" inositol 1,4,5-trisphosphate 3-kinase B 1992-04-15 2011-04-28 2023-01-20 3707 ENSG00000143772 OTTHUMG00000037582 uc010pvo.2 AJ242780 NM_002221 "CCDS1555|CCDS91167" P27987 "1654894|1330886" MGI:109235 RGD:2932 147522 objectId:1448 2.7.1.127 HGNC:6179 "ENST00000429204.6|NM_002221.4" HGNC:6179 +HGNC:6179 ITPKB inositol-trisphosphate 3-kinase B protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "IP3KB|IP3-3KB" inositol 1,4,5-trisphosphate 3-kinase B 1992-04-15 2011-04-28 2023-01-20 3707 ENSG00000143772 OTTHUMG00000037582 uc010pvo.2 AJ242780 NM_002221 "CCDS91167|CCDS1555" P27987 "1654894|1330886" MGI:109235 RGD:2932 147522 objectId:1448 2.7.1.127 HGNC:6179 "ENST00000429204.6|NM_002221.4" HGNC:6179 HGNC:40312 ITPKB-AS1 ITPKB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 ITPKB antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100873994 ENSG00000228548 OTTHUMG00000041340 uc057pyy.1 ITPKB-AS1 HGNC:41349 ITPKB-IT1 ITPKB intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 ITPKB intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100506443 ENSG00000228382 OTTHUMG00000037587 uc031vpw.2 NR_103784 ITPKB-IT1 HGNC:41349 -HGNC:14897 ITPKC inositol-trisphosphate 3-kinase C protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "IP3KC|IP3-3KC" inositol 1,4,5-trisphosphate 3-kinase C 2001-06-28 2011-04-28 2023-01-20 80271 ENSG00000086544 OTTHUMG00000182688 uc002oot.5 Y11999 NM_025194 "CCDS12563|CCDS92621" Q96DU7 11085927 MGI:2442554 RGD:631336 606476 objectId:1449 2.7.1.127 HGNC:14897 "ENST00000263370.3|NM_025194.3" -HGNC:6180 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "Insp3r1|IP3R1|ACV|PPP1R94" protein phosphatase 1, regulatory subunit 94 "SCA15|SCA16|SCA29" "spinocerebellar ataxia 15|spinocerebellar ataxia 16|spinocerebellar ataxia 29|inositol 1,4,5-trisphosphate receptor, type 1" "Inositol 1,4,5-triphosphate receptors|Protein phosphatase 1 regulatory subunits" "297|694" 1990-03-14 2016-02-05 2023-01-20 3708 ENSG00000150995 OTTHUMG00000154996 uc021wsi.3 D26070 NM_002222 "CCDS54551|CCDS93191|CCDS46740|CCDS54550" Q14643 "7945203|7500840|17590087|17932120|22986007" MGI:96623 RGD:2933 147265 159904 objectId:743 HGNC:6180 "ENST00000649015.2|NM_001378452.1" HGNC:6180 +HGNC:14897 ITPKC inositol-trisphosphate 3-kinase C protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "IP3KC|IP3-3KC" inositol 1,4,5-trisphosphate 3-kinase C 2001-06-28 2011-04-28 2023-01-20 80271 ENSG00000086544 OTTHUMG00000182688 uc002oot.5 Y11999 NM_025194 "CCDS92621|CCDS12563" Q96DU7 11085927 MGI:2442554 RGD:631336 606476 objectId:1449 2.7.1.127 HGNC:14897 "ENST00000263370.3|NM_025194.3" +HGNC:6180 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "Insp3r1|IP3R1|ACV|PPP1R94" protein phosphatase 1, regulatory subunit 94 "SCA15|SCA16|SCA29" "spinocerebellar ataxia 15|spinocerebellar ataxia 16|spinocerebellar ataxia 29|inositol 1,4,5-trisphosphate receptor, type 1" "Inositol 1,4,5-triphosphate receptors|Protein phosphatase 1 regulatory subunits" "297|694" 1990-03-14 2016-02-05 2023-01-20 3708 ENSG00000150995 OTTHUMG00000154996 uc021wsi.3 D26070 NM_002222 "CCDS54550|CCDS54551|CCDS93191|CCDS46740" Q14643 "7945203|7500840|17590087|17932120|22986007" MGI:96623 RGD:2933 147265 159904 objectId:743 HGNC:6180 "ENST00000649015.2|NM_001378452.1" HGNC:6180 HGNC:44470 ITPR1-DT ITPR1 divergent transcript non-coding RNA RNA, long non-coding Approved 3p26.1 03p26.1 ITPR1-AS1 ITPR1 antisense RNA 1 (head to head) Divergent transcripts 1990 2012-11-01 2018-03-23 2018-03-23 2018-03-23 100996539 ENSG00000231249 OTTHUMG00000154994 uc032rcf.2 BU629368 NR_108075 ITPR1-AS1 HGNC:44470 HGNC:6181 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 "IP3R2|CFAP48" cilia and flagella associated protein 48 "inositol 1,4,5-triphosphate receptor, type 2|inositol 1,4,5-trisphosphate receptor, type 2" "Inositol 1,4,5-triphosphate receptors|Cilia and flagella associated" "297|1491" 1991-06-05 2016-02-05 2023-01-20 3709 ENSG00000123104 OTTHUMG00000169181 uc001rhg.4 D26350 NM_002223 CCDS41764 Q14571 8081734 MGI:99418 RGD:69649 600144 477144 objectId:744 HGNC:6181 "ENST00000381340.8|NM_002223.4" HGNC:6181 -HGNC:56072 ITPR2-AS1 ITPR2 and SSPN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Antisense RNAs 1987 2021-12-13 2021-12-13 123706521 ENSG00000256234 +HGNC:56072 ITPR2-AS1 ITPR2 and SSPN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Antisense RNAs 1987 2021-12-13 2021-12-13 101928554 ENSG00000256234 XR_007063250 HGNC:6182 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 IP3R3 "inositol 1,4,5-triphosphate receptor, type 3|inositol 1,4,5-trisphosphate receptor, type 3" "Inositol 1,4,5-triphosphate receptors|Protein phosphatase 1 regulatory subunits" "297|694" 1991-06-05 2016-02-05 2023-01-20 3710 ENSG00000096433 OTTHUMG00000014532 uc063nyh.1 D26351 NM_002224 CCDS4783 Q14573 "8081734|8288584" MGI:96624 RGD:2934 147267 objectId:745 HGNC:6182 "ENST00000605930.3|NM_002224.4" HGNC:56127 ITPR3-AS1 ITPR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 Antisense RNAs 1987 2022-01-10 2022-01-10 101929188 NR_134628 HGNC:27363 ITPRID1 ITPR interacting domain containing 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 FLJ38344 CCDC129 coiled-coil domain containing 129 2006-08-21 2018-06-15 2018-06-15 2023-03-15 223075 ENSG00000180347 OTTHUMG00000128611 uc064cpm.1 AK128026 NM_194300 CCDS5435 Q6ZRS4 14702039 MGI:2685304 RGD:1561131 HGNC:27363 "ENST00000615280.5|NM_001257967.3" -HGNC:11319 ITPRID2 ITPR interacting domain containing 2 protein-coding gene gene with protein product Approved 2q31.3 02q31.3 "CS-1|SPAG13|KRAP|KIAA1927" "cleavage signal-1 protein|KRAS-induced actin-interacting protein|sperm associated antigen 13" SSFA2 sperm specific antigen 2 1997-10-16 2018-06-15 2018-06-15 2023-01-20 6744 ENSG00000138434 OTTHUMG00000132584 uc002uoh.5 M61199 NM_006751 "CCDS2284|CCDS74611|CCDS46467" P28290 "1555770|23541577" MGI:1917849 RGD:1310767 118990 HGNC:11319 "ENST00000431877.7|NM_001130445.3" +HGNC:11319 ITPRID2 ITPR interacting domain containing 2 protein-coding gene gene with protein product Approved 2q31.3 02q31.3 "CS-1|SPAG13|KRAP|KIAA1927" "cleavage signal-1 protein|KRAS-induced actin-interacting protein|sperm associated antigen 13" SSFA2 sperm specific antigen 2 1997-10-16 2018-06-15 2018-06-15 2023-01-20 6744 ENSG00000138434 OTTHUMG00000132584 uc002uoh.5 M61199 NM_006751 "CCDS2284|CCDS46467|CCDS74611" P28290 "1555770|23541577" MGI:1917849 RGD:1310767 118990 HGNC:11319 "ENST00000431877.7|NM_001130445.3" HGNC:55386 ITPRID2-DT ITPRID2 divergent transcript non-coding RNA RNA, long non-coding Approved 2q31.3 02q31.3 Divergent transcripts 1990 2020-12-10 2020-12-10 119863860 ENSG00000260742 HGNC:29370 ITPRIP inositol 1,4,5-trisphosphate receptor interacting protein protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "bA127L20.2|DANGER" KIAA1754 "KIAA1754|inositol 1,4,5-triphosphate receptor interacting protein" 2004-02-18 2008-08-11 2011-04-28 2023-01-20 85450 ENSG00000148841 OTTHUMG00000184003 uc001kyg.5 AB051541 NM_033397 CCDS7557 Q8IWB1 "11214970|16990268" MGI:3042776 RGD:6488464 620205 HGNC:29370 "ENST00000337478.3|NM_001272013.2" HGNC:54100 ITPRIP-AS1 ITPRIP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 Antisense RNAs 1987 2018-11-29 2018-11-29 101927472 ENSG00000228261 NR_120622 HGNC:54100 -HGNC:29371 ITPRIPL1 ITPRIP like 1 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 KIAA1754L "KIAA1754-like|inositol 1,4,5-triphosphate receptor interacting protein-like 1|inositol 1,4,5-trisphosphate receptor interacting protein-like 1" 2008-03-12 2008-08-11 2017-09-15 2023-01-20 150771 ENSG00000198885 OTTHUMG00000155230 uc002svx.4 NM_178495 "CCDS46360|CCDS33250|CCDS54378" Q6GPH6 12477932 MGI:1920588 RGD:1564158 HGNC:29371 "ENST00000439118.3|NM_001008949.3" +HGNC:29371 ITPRIPL1 ITPRIP like 1 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 KIAA1754L "KIAA1754-like|inositol 1,4,5-triphosphate receptor interacting protein-like 1|inositol 1,4,5-trisphosphate receptor interacting protein-like 1" 2008-03-12 2008-08-11 2017-09-15 2023-01-20 150771 ENSG00000198885 OTTHUMG00000155230 uc002svx.4 NM_178495 "CCDS46360|CCDS54378|CCDS33250" Q6GPH6 12477932 MGI:1920588 RGD:1564158 HGNC:29371 "ENST00000439118.3|NM_001008949.3" HGNC:27257 ITPRIPL2 ITPRIP like 2 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "FLJ22994|MGC126798|MGC126800|LOC162073" inositol 1,4,5-trisphosphate receptor interacting protein like 2 2008-08-11 2017-09-15 2023-01-20 162073 ENSG00000205730 OTTHUMG00000177199 uc002dfu.5 NM_001034841 CCDS32395 Q3MIP1 MGI:2442416 RGD:1564255 HGNC:27257 "ENST00000381440.5|NM_001034841.4" -HGNC:6183 ITSN1 intersectin 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "SH3P17|MGC134948|MGC134949" "SH3 domain protein-1A|human intersectin-SH3 domain-containing protein SH3P17|Src homology 3 domain-containing protein" "SH3D1A|ITSN" intersectin 1 (SH3 domain protein) "Pleckstrin homology domain containing|Dbl family Rho GEFs|C2 domain containing|EF-hand domain containing" "682|722|823|863" 1997-04-25 2015-11-10 2023-01-20 6453 ENSG00000205726 OTTHUMG00000065284 uc002yta.2 AF064244 NM_003024 "CCDS33546|CCDS82666|CCDS33545|CCDS82664|CCDS82661|CCDS82663|CCDS82665" Q15811 "9799604|9813051" MGI:1338069 RGD:2935 602442 HGNC:6183 "ENST00000381318.8|NM_003024.3" +HGNC:6183 ITSN1 intersectin 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "SH3P17|MGC134948|MGC134949" "SH3 domain protein-1A|human intersectin-SH3 domain-containing protein SH3P17|Src homology 3 domain-containing protein" "SH3D1A|ITSN" intersectin 1 (SH3 domain protein) "Pleckstrin homology domain containing|Dbl family Rho GEFs|C2 domain containing|EF-hand domain containing" "682|722|823|863" 1997-04-25 2015-11-10 2023-01-20 6453 ENSG00000205726 OTTHUMG00000065284 uc002yta.2 AF064244 NM_003024 "CCDS82665|CCDS82663|CCDS33546|CCDS82664|CCDS82661|CCDS33545|CCDS82666" Q15811 "9799604|9813051" MGI:1338069 RGD:2935 602442 HGNC:6183 "ENST00000381318.8|NM_003024.3" HGNC:6184 ITSN2 intersectin 2 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "KIAA1256|SWAP|SH3P18|SWA|PRO2015" "SH3 domain protein 1B|SH3P18-like WASP associated protein" SH3D1B SH3 domain protein 1B "Dbl family Rho GEFs|C2 domain containing|EF-hand domain containing" "722|823|863" 2000-03-29 2002-10-30 2023-01-20 50618 ENSG00000198399 OTTHUMG00000090818 uc002rfe.3 AB033082 NM_006277 "CCDS46230|CCDS1711|CCDS1710" Q9NZM3 "10922467|11748279" MGI:1338049 RGD:1590890 604464 HGNC:6184 "ENST00000355123.9|NM_006277.3" HGNC:56237 IUR1 imatinib upregulated ABL suppressing lncRNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 imatinib-upregulated lncRNA 1 Long non-coding RNAs with non-systematic symbols 1992 2022-05-11 2022-05-11 105369381 ENSG00000289625 XR_001748495 34980123 -HGNC:6186 IVD isovaleryl-CoA dehydrogenase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "ACAD2|IVDH" "isovaleryl Coenzyme A dehydrogenase|isovaleryl CoA dehydrogenase" Acyl-CoA dehydrogenase family 974 1986-01-01 2010-05-11 2023-01-20 3712 ENSG00000128928 OTTHUMG00000129984 uc001zls.4 AF038317 NM_001159508 "CCDS10057|CCDS53930" P26440 2063866 MGI:1929242 RGD:2936 607036 122716 1.3.8.4 HGNC:6186 "ENST00000487418.8|NM_002225.5" HGNC:6186 +HGNC:6186 IVD isovaleryl-CoA dehydrogenase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "ACAD2|IVDH" "isovaleryl Coenzyme A dehydrogenase|isovaleryl CoA dehydrogenase" Acyl-CoA dehydrogenase family 974 1986-01-01 2010-05-11 2023-01-20 3712 ENSG00000128928 OTTHUMG00000129984 uc001zls.4 AF038317 NM_001159508 "CCDS53930|CCDS10057" P26440 2063866 MGI:1929242 RGD:2936 607036 122716 1.3.8.4 HGNC:6186 "ENST00000487418.8|NM_002225.5" HGNC:6186 HGNC:6187 IVL involucrin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Cornified envelope precursor family 1352 1986-01-01 2023-01-20 3713 ENSG00000163207 OTTHUMG00000012451 uc001fau.4 BC046391 NM_005547 CCDS1030 P07476 2873896 MGI:96626 RGD:620141 147360 HGNC:6187 "ENST00000368764.4|NM_005547.4" HGNC:16951 IVNS1ABP influenza virus NS1A binding protein protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "NS1-BP|HSPC068|NS-1|KIAA0850|ND1|KLHL39|ARA3" "kelch-like family member 39|Aryl hydrocarbon receptor-associated protein 3" "Kelch like|BTB domain containing" "617|861" 2003-05-19 2023-01-20 10625 ENSG00000116679 OTTHUMG00000035384 uc001grl.4 AB020657 NM_006469 CCDS1368 Q9Y6Y0 "9696811|10048485|16582008" MGI:2152389 RGD:1306290 609209 HGNC:16951 "ENST00000367498.8|NM_006469.5" HGNC:16951 -HGNC:25467 IWS1 interacts with SUPT6H, CTD assembly factor 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "DKFZp761G0123|FLJ10006|FLJ14655|FLJ32319" "IWS1 homolog (S. cerevisiae)|IWS1, SUPT6H interacting protein" 2006-03-17 2019-02-01 2023-01-20 55677 ENSG00000163166 OTTHUMG00000131527 uc002ton.3 AK000868 NM_017969 "CCDS2146|CCDS92859" Q96ST2 "17234882|17184735" MGI:1920723 RGD:1304762 HGNC:25467 "ENST00000295321.9|NM_017969.3" -HGNC:21071 IYD iodotyrosine deiodinase protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "dJ422F24.1|DEHAL1" C6orf71 chromosome 6 open reading frame 71 2003-11-26 2006-08-24 2006-08-24 2023-01-20 389434 ENSG00000009765 OTTHUMG00000016347 uc003qnu.3 AK129950 NM_203395 "CCDS5227|CCDS55067|CCDS55066" Q6PHW0 "16316988|15289438" MGI:1917587 RGD:1309288 612025 201101 objectId:2488 HGNC:21071 "ENST00000344419.8|NM_203395.3" HGNC:21071 +HGNC:25467 IWS1 interacts with SUPT6H, CTD assembly factor 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "DKFZp761G0123|FLJ10006|FLJ14655|FLJ32319" "IWS1 homolog (S. cerevisiae)|IWS1, SUPT6H interacting protein" 2006-03-17 2019-02-01 2023-01-20 55677 ENSG00000163166 OTTHUMG00000131527 uc002ton.3 AK000868 NM_017969 "CCDS92859|CCDS2146" Q96ST2 "17234882|17184735" MGI:1920723 RGD:1304762 HGNC:25467 "ENST00000295321.9|NM_017969.3" +HGNC:21071 IYD iodotyrosine deiodinase protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "dJ422F24.1|DEHAL1" C6orf71 chromosome 6 open reading frame 71 2003-11-26 2006-08-24 2006-08-24 2023-01-20 389434 ENSG00000009765 OTTHUMG00000016347 uc003qnu.3 AK129950 NM_203395 "CCDS5227|CCDS55066|CCDS55067" Q6PHW0 "16316988|15289438" MGI:1917587 RGD:1309288 612025 201101 objectId:2488 HGNC:21071 "ENST00000344419.8|NM_203395.3" HGNC:21071 HGNC:28539 IZUMO1 izumo sperm-oocyte fusion 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "IZUMO|MGC34799|OBF" oocyte binding/fusion factor izumo sperm-egg fusion 1 "IZUMO family|Ig-like cell adhesion molecule family" "56|1410" 2005-06-01 2022-09-09 2023-01-20 284359 ENSG00000182264 OTTHUMG00000183324 uc002pkj.3 BC034769 NM_182575 CCDS12732 Q8IYV9 "15759005|18952059|19658160|22957301" MGI:1920706 RGD:1565454 609278 HGNC:28539 "ENST00000332955.7|NM_182575.3" HGNC:32565 IZUMO1R IZUMO1 receptor, JUNO protein-coding gene gene with protein product Approved 11q21 11q21 "Folbp3|JUNO" FOLR4 "folate receptor 4 (delta) homolog (mouse)|folate receptor 4, delta (putative)" Ig-like cell adhesion molecule family 1410 2008-12-08 2014-10-13 2014-10-13 2023-03-15 390243 ENSG00000183560 OTTHUMG00000167776 NM_001080486 CCDS81615 A6ND01 "11111049|24739963" MGI:1929185 RGD:1585174 615737 HGNC:32565 "ENST00000687084.1|NM_001199206.4" HGNC:28518 IZUMO2 IZUMO family member 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MGC33947|SCRL" C19orf41 chromosome 19 open reading frame 41 IZUMO family 56 2006-04-03 2010-07-29 2010-07-29 2023-01-20 126123 ENSG00000161652 OTTHUMG00000074063 uc002prp.2 AY358196 NM_152358 CCDS12792 Q6UXV1 "19658160|22957301" MGI:1922760 RGD:1562619 618895 HGNC:28518 "ENST00000293405.8|NM_152358.3" HGNC:31421 IZUMO3 IZUMO family member 3 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 bA20A20.1 C9orf134 chromosome 9 open reading frame 134 IZUMO family 56 2004-04-16 2010-07-29 2010-07-29 2023-01-20 100129669 ENSG00000205442 OTTHUMG00000019704 uc031tdg.1 NM_001271706 "CCDS94393|CCDS65020" Q5VZ72 "19658160|22957301" MGI:1916564 RGD:2324467 618896 HGNC:31421 "ENST00000543880.7|NM_001365008.2" HGNC:26950 IZUMO4 IZUMO family member 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 C19orf36 chromosome 19 open reading frame 36 IZUMO family 56 2004-08-03 2010-07-29 2010-07-29 2023-03-15 113177 ENSG00000099840 OTTHUMG00000141290 uc002lux.2 BC014609 NM_052878 "CCDS86690|CCDS42458|CCDS35499" Q1ZYL8 "12975309|19658160|22957301" MGI:1918814 RGD:1564722 618897 HGNC:26950 "ENST00000395301.8|NM_001039846.2" -HGNC:30027 JADE1 jade family PHD finger 1 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 JADE-1 PHF17 PHD finger protein 17 PHD finger proteins 88 2004-03-01 2013-10-11 2013-10-11 2023-01-20 79960 ENSG00000077684 OTTHUMG00000161176 NM_024900 "CCDS75191|CCDS34062|CCDS47134" Q6IE81 "11347906|12169691" MGI:1925835 RGD:1306920 610514 HGNC:30027 "ENST00000226319.11|NM_199320.4" -HGNC:22984 JADE2 jade family PHD finger 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0239|JADE-2" PHF15 PHD finger protein 15 PHD finger proteins 88 2003-08-11 2013-10-11 2013-10-11 2023-01-20 23338 ENSG00000043143 OTTHUMG00000129122 AJ251833 NM_015288 "CCDS4176|CCDS93782|CCDS75305|CCDS78061" Q9NQC1 MGI:1924151 RGD:1309152 610515 HGNC:22984 "ENST00000681547.2|NM_001388185.1" +HGNC:30027 JADE1 jade family PHD finger 1 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 JADE-1 PHF17 PHD finger protein 17 PHD finger proteins 88 2004-03-01 2013-10-11 2013-10-11 2023-01-20 79960 ENSG00000077684 OTTHUMG00000161176 NM_024900 "CCDS47134|CCDS75191|CCDS34062" Q6IE81 "11347906|12169691" MGI:1925835 RGD:1306920 610514 HGNC:30027 "ENST00000226319.11|NM_199320.4" +HGNC:22984 JADE2 jade family PHD finger 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0239|JADE-2" PHF15 PHD finger protein 15 PHD finger proteins 88 2003-08-11 2013-10-11 2013-10-11 2023-01-20 23338 ENSG00000043143 OTTHUMG00000129122 AJ251833 NM_015288 "CCDS75305|CCDS78061|CCDS4176|CCDS93782" Q9NQC1 MGI:1924151 RGD:1309152 610515 HGNC:22984 "ENST00000681547.2|NM_001388185.1" HGNC:22982 JADE3 jade family PHD finger 3 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "KIAA0215|JADE-3" PHF16 PHD finger protein 16 PHD finger proteins 88 2003-08-08 2013-10-11 2013-10-11 2023-01-20 9767 ENSG00000102221 OTTHUMG00000021431 AF127774 NM_014735 CCDS14271 Q92613 11944989 MGI:2148019 RGD:1563945 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/JADE3 300618 HGNC:22982 "ENST00000614628.5|NM_014735.5" HGNC:48601 JADRR JADE1 adjacent regulatory RNA non-coding RNA RNA, long non-coding Approved 4q28.2 04q28.2 lncRNA-JADE LINC00915 long intergenic non-protein coding RNA 915 Long non-coding RNAs with non-systematic symbols 1992 2013-05-24 2013-10-11 2013-10-11 2018-08-23 101669763 ENSG00000280711 OTTHUMG00000189573 KC469579 24097061 jadrr HGNC:6188 JAG1 jagged canonical Notch ligand 1 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "AHD|AWS|HJ1|CD339" "AGS|JAGL1" "Alagille syndrome|jagged 1" "CD molecules|MicroRNA protein coding host genes" "471|1691" 1997-05-22 2019-01-03 2023-01-20 182 ENSG00000101384 OTTHUMG00000031872 uc002wnw.3 U61276 NM_000214 CCDS13112 P78504 "7697721|9207788" MGI:1095416 RGD:2937 "JAG1 database at LOVD-China|http://genomed.org/LOVD/ALGS/home.php?select_db=JAG1|LRG_1191|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1191.xml" 601920 122719 CD339 HGNC:6188 "ENST00000254958.10|NM_000214.3" HGNC:6188 @@ -13601,15 +13602,15 @@ HGNC:26926 JAGN1 jagunal homolog 1 protein-coding gene gene with protein product HGNC:6190 JAK1 Janus kinase 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "JAK1A|JTK3" JAK1B "FERM domain containing|Jak family tyrosine kinases" "1293|1459" 1992-04-16 2009-04-23 2023-01-20 3716 ENSG00000162434 OTTHUMG00000009310 uc001dbu.2 M64174 NM_002227 "CCDS90968|CCDS41346" P23458 "1848670|7698020" MGI:96628 RGD:69056 LRG_1398|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1398.xml JAK1 147795 objectId:2047 2.7.10.1 HGNC:6190 "ENST00000342505.5|NM_002227.4" HGNC:6192 JAK2 Janus kinase 2 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 JTK10 "SH2 domain containing|FERM domain containing|Jak family tyrosine kinases" "741|1293|1459" 1992-04-16 2009-04-23 2023-01-20 3717 ENSG00000096968 OTTHUMG00000019490 uc003ziw.3 NM_001322194 CCDS6457 O60674 1848670 MGI:96629 RGD:2939 LRG_612|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_612.xml JAK2 147796 122727 objectId:2048 2.7.10.1 HGNC:6192 "ENST00000381652.4|NM_004972.4" HGNC:6192 HGNC:6193 JAK3 Janus kinase 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "L-JAK|JAKL|LJAK|JAK3_HUMAN|JAK-3" "tyrosine-protein kinase JAK3|leukocyte Janus kinase" Jak family tyrosine kinases 1459 1994-12-19 2009-04-23 2023-01-20 3718 ENSG00000105639 OTTHUMG00000165648 uc002nhn.5 U31601 NM_000215 CCDS12366 P52333 "8921370|9226382" MGI:99928 RGD:2940 "JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency|http://structure.bmc.lu.se/idbase/JAK3base/|LRG_77|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_77.xml" JAK3 600173 122729 objectId:2049 2.7.10.1 HGNC:6193 "ENST00000458235.7|NM_000215.4" HGNC:6193 -HGNC:26460 JAKMIP1 janus kinase and microtubule interacting protein 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "MARLIN1|JAMIP1|Gababrbp|FLJ31564" 2006-02-23 2009-08-13 2023-01-20 152789 ENSG00000152969 OTTHUMG00000125491 uc003giv.5 AK056126 NM_144720 "CCDS47005|CCDS3385|CCDS77897" Q96N16 18941173 MGI:1923321 RGD:1562401 611195 HGNC:26460 "ENST00000409021.9|NM_001099433.2" +HGNC:26460 JAKMIP1 janus kinase and microtubule interacting protein 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "MARLIN1|JAMIP1|Gababrbp|FLJ31564" 2006-02-23 2009-08-13 2023-01-20 152789 ENSG00000152969 OTTHUMG00000125491 uc003giv.5 AK056126 NM_144720 "CCDS3385|CCDS47005|CCDS77897" Q96N16 18941173 MGI:1923321 RGD:1562401 611195 HGNC:26460 "ENST00000409021.9|NM_001099433.2" HGNC:27728 JAKMIP1-DT JAKMIP1 divergent transcript non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 LINC02495 long intergenic non-protein coding RNA 2495 Divergent transcripts 1990 2017-05-03 2021-04-12 2021-04-12 2021-04-12 285484 ENSG00000249896 OTTHUMG00000160216 NR_037863 HGNC:27728 -HGNC:29067 JAKMIP2 janus kinase and microtubule interacting protein 2 protein-coding gene gene with protein product Approved 5q32 05q32 "JAMIP2|KIAA0555" 2006-02-23 2009-08-13 2023-01-20 9832 ENSG00000176049 OTTHUMG00000129731 uc003loq.3 AB011127 NM_014790 "CCDS75352|CCDS64284|CCDS4285|CCDS59495" Q96AA8 9628581 MGI:1923467 RGD:1559742 611197 HGNC:29067 "ENST00000616793.5|NM_001270941.2" +HGNC:29067 JAKMIP2 janus kinase and microtubule interacting protein 2 protein-coding gene gene with protein product Approved 5q32 05q32 "JAMIP2|KIAA0555" 2006-02-23 2009-08-13 2023-01-20 9832 ENSG00000176049 OTTHUMG00000129731 uc003loq.3 AB011127 NM_014790 "CCDS64284|CCDS75352|CCDS4285|CCDS59495" Q96AA8 9628581 MGI:1923467 RGD:1559742 611197 HGNC:29067 "ENST00000616793.5|NM_001270941.2" HGNC:27203 JAKMIP2-AS1 JAKMIP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q32 05q32 JAKMIP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 153469 ENSG00000280780 OTTHUMG00000189513 uc003lop.2 AK027578 NR_038902 JAKMIP2-AS1 HGNC:27203 -HGNC:23523 JAKMIP3 Janus kinase and microtubule interacting protein 3 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "FLJ37857|NECC2|KIAA4091|bA140A10.5" neuroendocrine long coiled-coil 2 "C10orf39|C10orf14" "chromosome 10 open reading frame 39|chromosome 10 open reading frame 14" 2003-11-21 2008-01-28 2009-04-23 2023-03-15 282973 ENSG00000188385 OTTHUMG00000150167 uc001lkx.5 AL832756 NM_194303 "CCDS91378|CCDS44494|CCDS91386|CCDS91385|CCDS91380|CCDS91379|CCDS91383|CCDS91382|CCDS91384|CCDS91381" Q5VZ66 "15277531|17572408" MGI:1921254 RGD:1307177 611198 HGNC:23523 "ENST00000684848.1|NM_001323087.2" +HGNC:23523 JAKMIP3 Janus kinase and microtubule interacting protein 3 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "FLJ37857|NECC2|KIAA4091|bA140A10.5" neuroendocrine long coiled-coil 2 "C10orf39|C10orf14" "chromosome 10 open reading frame 39|chromosome 10 open reading frame 14" 2003-11-21 2008-01-28 2009-04-23 2023-03-15 282973 ENSG00000188385 OTTHUMG00000150167 uc001lkx.5 AL832756 NM_194303 "CCDS91386|CCDS91385|CCDS91383|CCDS91381|CCDS91382|CCDS91378|CCDS44494|CCDS91379|CCDS91384|CCDS91380" Q5VZ66 "15277531|17572408" MGI:1921254 RGD:1307177 611198 HGNC:23523 "ENST00000684848.1|NM_001323087.2" HGNC:55678 JAKMIP3-AS1 JAKMIP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Antisense RNAs 1987 2021-07-01 2021-07-01 105378567 ENSG00000235010 NR_184041 HGNC:14686 JAM2 junctional adhesion molecule 2 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "VE-JAM|JAM-B|JAMB|CD322|JAM-2" "vascular endothelial junction-associated molecule|junctional adhesion molecule B" C21orf43 "CD molecules|V-set domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "471|590|593|1410" 2001-04-25 2023-01-20 58494 ENSG00000154721 OTTHUMG00000078441 uc002ylp.3 AF255910 NM_001270407 "CCDS58788|CCDS58787|CCDS42911" P57087 "10779521|10945976|31851307" MGI:1933820 RGD:1561692 606870 CD322 HGNC:14686 "ENST00000480456.6|NM_021219.4" HGNC:14686 -HGNC:15532 JAM3 junctional adhesion molecule 3 protein-coding gene gene with protein product Approved 11q25 11q25 "JAM-C|JAMC|JAM-3" junctional adhesion molecule C "V-set domain containing|Ig-like cell adhesion molecule family|Small nucleolar RNA protein coding host genes" "590|1410|1835" 2001-04-26 2023-01-20 83700 ENSG00000166086 OTTHUMG00000167130 uc001qhb.4 AF356518 NM_032801 "CCDS55799|CCDS8494" Q9BX67 "11590146|21109224" MGI:1933825 RGD:1303248 606871 311118 HGNC:15532 "ENST00000299106.9|NM_032801.5" HGNC:15532 -HGNC:19084 JAML junction adhesion molecule like protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "Gm638|AMICA" AMICA1 adhesion molecule, interacts with CXADR antigen 1 "V-set domain containing|Ig-like cell adhesion molecule family" "590|1410" 2002-09-12 2015-11-24 2015-11-24 2023-01-20 120425 ENSG00000160593 OTTHUMG00000166965 uc001psi.3 "AY138965|AY358362" NM_153206 "CCDS8391|CCDS66240|CCDS41723" Q86YT9 12975309 MGI:2685484 RGD:1562572 609770 HGNC:19084 "ENST00000356289.10|NM_001098526.2" +HGNC:15532 JAM3 junctional adhesion molecule 3 protein-coding gene gene with protein product Approved 11q25 11q25 "JAM-C|JAMC|JAM-3" junctional adhesion molecule C "V-set domain containing|Ig-like cell adhesion molecule family|Small nucleolar RNA protein coding host genes" "590|1410|1835" 2001-04-26 2023-01-20 83700 ENSG00000166086 OTTHUMG00000167130 uc001qhb.4 AF356518 NM_032801 "CCDS8494|CCDS55799" Q9BX67 "11590146|21109224" MGI:1933825 RGD:1303248 606871 311118 HGNC:15532 "ENST00000299106.9|NM_032801.5" HGNC:15532 +HGNC:19084 JAML junction adhesion molecule like protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "Gm638|AMICA" AMICA1 adhesion molecule, interacts with CXADR antigen 1 "V-set domain containing|Ig-like cell adhesion molecule family" "590|1410" 2002-09-12 2015-11-24 2015-11-24 2023-01-20 120425 ENSG00000160593 OTTHUMG00000166965 uc001psi.3 "AY138965|AY358362" NM_153206 "CCDS41723|CCDS8391|CCDS66240" Q86YT9 12975309 MGI:2685484 RGD:1562572 609770 HGNC:19084 "ENST00000356289.10|NM_001098526.2" HGNC:6196 JARID2 jumonji and AT-rich interaction domain containing 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 JMJ "jumonji (mouse) homolog|Jumonji, AT rich interactive domain 2|jumonji, AT rich interactive domain 2" "AT-rich interaction domain containing|Iron (II) and 2-oxoglutarate dependent oxygenases" "418|1368" 1997-09-05 2004-01-30 2015-11-17 2023-01-20 3720 ENSG00000008083 OTTHUMG00000014293 uc003nbj.5 U57592 NM_004973 "CCDS58996|CCDS4533" Q92833 8894700 MGI:104813 RGD:1591663 601594 HGNC:6196 "ENST00000341776.7|NM_004973.4" HGNC:6196 HGNC:40314 JARID2-AS1 JARID2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 JARID2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2014-11-19 100506681 ENSG00000235488 OTTHUMG00000014292 uc003nbk.4 "AW340306|AW665239" NR_120502 JARID2-AS1 HGNC:40314 HGNC:55240 JARID2-DT JARID2 divergent transcript non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 Divergent transcripts 1990 2020-09-16 2020-09-16 118597839 ENSG00000271888 @@ -13619,28 +13620,28 @@ HGNC:29283 JCAD junctional cadherin 5 associated protein-coding gene gene with p HGNC:54491 JCADP1 JCAD pseudogene 1 pseudogene pseudogene Approved 21q22.2 21q22.2 2019-08-27 2019-08-27 729056 ENSG00000235012 OTTHUMG00000086715 NG_022000 PGOHUM00000297385 HGNC:54491 HGNC:5713 JCHAIN joining chain of multimeric IgA and IgM protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "IGCJ|JCH" "immunoglobulin J chain|IgJ chain|J chain" IGJ immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 2001-06-22 2015-04-02 2015-04-02 2023-01-20 3512 ENSG00000132465 OTTHUMG00000129909 M12759 NM_144646 CCDS3545 P01591 "3016707|2984306" MGI:96493 RGD:1310155 147790 HGNC:5713 "ENST00000254801.9|NM_144646.4" HGNC:5714 JCHAINP1 joining chain of multimeric IgA and IgM pseudogene 1 pseudogene pseudogene Approved 8q21.2 08q21.2 IGJP1 immunoglobulin J polypeptide pseudogene 1 1994-12-08 2018-08-08 2018-08-08 2018-08-08 3513 ENSG00000253655 OTTHUMG00000164783 S74134 NG_009863 7916122 PGOHUM00000249416 HGNC:5714 -HGNC:17546 JDP2 Jun dimerization protein 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 progesterone receptor co-activator JUNDM2 Basic leucine zipper proteins 506 2008-03-26 2008-04-10 2023-01-20 122953 ENSG00000140044 OTTHUMG00000171869 uc010tvc.3 AF111167 NM_130469 "CCDS45139|CCDS9842" Q8WYK2 "12052888|9154808|17545590" MGI:1932093 RGD:621611 608657 HGNC:17546 "ENST00000651602.1|NM_001135048.2" +HGNC:17546 JDP2 Jun dimerization protein 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 progesterone receptor co-activator JUNDM2 Basic leucine zipper proteins 506 2008-03-26 2008-04-10 2023-01-20 122953 ENSG00000140044 OTTHUMG00000171869 uc010tvc.3 AF111167 NM_130469 "CCDS9842|CCDS45139" Q8WYK2 "12052888|9154808|17545590" MGI:1932093 RGD:621611 608657 HGNC:17546 "ENST00000651602.1|NM_001135048.2" HGNC:55424 JDP2-AS1 JDP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Antisense RNAs 1987 2021-01-07 2021-01-07 101928377 ENSG00000259319 NR_184172 HGNC:26288 JHY junctional cadherin complex regulator protein-coding gene gene with protein product Approved 11q24.1 11q24.1 FLJ23554 juvenile hydrocephalus C11orf63 chromosome 11 open reading frame 63 2006-03-09 2017-10-02 2017-10-02 2023-01-20 79864 ENSG00000109944 OTTHUMG00000166027 uc001pym.5 BC068507 NM_024806 "CCDS8438|CCDS8439" Q6NUN7 23906841 MGI:1918239 RGD:1309108 617594 HGNC:26288 "ENST00000227349.7|NM_024806.4" -HGNC:20184 JKAMP JNK1/MAPK8 associated membrane protein protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "HSPC213|JAMP|HSPC327|CDA06" Jun N-terminal kinase 1-associated membrane protein C14orf100 chromosome 14 open reading frame 100 2002-12-20 2009-08-13 2017-09-14 2023-01-20 51528 ENSG00000050130 OTTHUMG00000171054 uc001xef.6 AF212245 NM_001098625 "CCDS61463|CCDS45116|CCDS61462|CCDS45117" Q9P055 "16166642|19269966" MGI:1915057 RGD:1308917 611176 HGNC:20184 "ENST00000616435.5|NM_016475.5" +HGNC:20184 JKAMP JNK1/MAPK8 associated membrane protein protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "HSPC213|JAMP|HSPC327|CDA06" Jun N-terminal kinase 1-associated membrane protein C14orf100 chromosome 14 open reading frame 100 2002-12-20 2009-08-13 2017-09-14 2023-01-20 51528 ENSG00000050130 OTTHUMG00000171054 uc001xef.6 AF212245 NM_001098625 "CCDS61462|CCDS61463|CCDS45117|CCDS45116" Q9P055 "16166642|19269966" MGI:1915057 RGD:1308917 611176 HGNC:20184 "ENST00000616435.5|NM_016475.5" HGNC:49759 JKAMPP1 JNK1/MAPK8-associated membrane protein pseudogene 1 pseudogene pseudogene Approved 9p23 09p23 2014-02-14 2014-02-14 100049717 ENSG00000231491 OTTHUMG00000019556 NG_006081 PGOHUM00000236387 HGNC:49759 -HGNC:12313 JMJD1C jumonji domain containing 1C protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "DKFZp761F0118|KIAA1380|FLJ14374|KDM3C" TRIP8 thyroid hormone receptor interactor 8 "Lysine demethylases|MicroRNA protein coding host genes" "485|1691" 1999-03-19 2004-04-01 2004-03-31 2023-03-15 221037 ENSG00000171988 OTTHUMG00000018311 uc001jmn.5 L40411 NM_004241 "CCDS60538|CCDS41532" Q15652 "7776974|24240613|31076406" MGI:1918614 RGD:708458 604503 410615 objectId:2663 HGNC:12313 "ENST00000399262.7|NM_032776.3" HGNC:12313 +HGNC:12313 JMJD1C jumonji domain containing 1C protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "DKFZp761F0118|KIAA1380|FLJ14374|KDM3C" TRIP8 thyroid hormone receptor interactor 8 "Lysine demethylases|MicroRNA protein coding host genes" "485|1691" 1999-03-19 2004-04-01 2004-03-31 2023-03-15 221037 ENSG00000171988 OTTHUMG00000018311 uc001jmn.5 L40411 NM_004241 "CCDS41532|CCDS60538" Q15652 "7776974|24240613|31076406" MGI:1918614 RGD:708458 604503 410615 objectId:2663 HGNC:12313 "ENST00000399262.7|NM_032776.3" HGNC:12313 HGNC:28222 JMJD1C-AS1 JMJD1C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q21.3 10q21.3 Antisense RNAs 1987 2013-02-07 2020-08-13 84989 ENSG00000272767 OTTHUMG00000186280 uc010qir.3 AK314171 NR_027182 12477932 JMJD1C-AS1 HGNC:28222 HGNC:56170 JMJD1C-AS2 JMJD1C antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10q21.3 10q21.3 Antisense RNAs 1987 2022-01-14 2022-01-14 105378330 NR_134312 -HGNC:25724 JMJD4 jumonji domain containing 4 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 FLJ12517 "2-oxoglutarate- and Fe(II)-dependent oxygenase|C4 lysyl hydroxylase" JmjC hydroxylases 1346 2005-05-18 2023-01-20 65094 ENSG00000081692 OTTHUMG00000037698 uc057qak.1 AK022579 NM_023007 "CCDS1561|CCDS59203" Q9H9V9 24486019 MGI:2144404 RGD:1307186 HGNC:25724 "ENST00000620518.5|NM_023007.3" +HGNC:25724 JMJD4 jumonji domain containing 4 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 FLJ12517 "2-oxoglutarate- and Fe(II)-dependent oxygenase|C4 lysyl hydroxylase" JmjC hydroxylases 1346 2005-05-18 2023-01-20 65094 ENSG00000081692 OTTHUMG00000037698 uc057qak.1 AK022579 NM_023007 "CCDS59203|CCDS1561" Q9H9V9 24486019 MGI:2144404 RGD:1307186 HGNC:25724 "ENST00000620518.5|NM_023007.3" HGNC:56520 JMJD4P1 JMJD4 pseudogene 1 pseudogene pseudogene Approved 3q21.3 03q21.3 2022-10-28 2022-10-28 100130760 ENSG00000249505 NG_012268 PGOHUM00000299582 HGNC:19355 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "PTDSR1|KIAA0585" PTDSR "phosphatidylserine receptor|jumonji domain containing 6" Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2002-10-09 2007-02-16 2018-07-12 2023-01-20 23210 ENSG00000070495 OTTHUMG00000169267 uc002jso.4 AB011157 NM_015167 "CCDS42384|CCDS42383" Q6NYC1 11877474 MGI:1858910 RGD:1305395 604914 objectId:2892 HGNC:19355 "ENST00000397625.9|NM_015167.3" HGNC:34397 JMJD7 jumonji domain containing 7 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2008-07-08 2023-01-20 100137047 ENSG00000243789 OTTHUMG00000156810 uc001zon.3 NM_001114632 CCDS45240 P0C870 MGI:3845785 RGD:2290039 HGNC:34397 "ENST00000397299.9|NM_001114632.2" HGNC:34449 JMJD7-PLA2G4B JMJD7-PLA2G4B readthrough other readthrough Approved 15q15.1 15q15.1 2008-09-10 2023-03-15 8681 ENSG00000168970 OTTHUMG00000044442 uc001zoo.5 NM_001198588 MGI:2384819 HGNC:34449 -HGNC:14148 JMJD8 jumonji domain containing 8 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 C16orf20 chromosome 16 open reading frame 20 2000-12-21 2008-07-28 2008-07-28 2023-01-20 339123 ENSG00000161999 OTTHUMG00000172950 uc002ciw.2 NM_001005920 "CCDS45369|CCDS92074|CCDS92075" Q96S16 MGI:1919356 RGD:1307381 HGNC:14148 "ENST00000609261.6|NM_001005920.4" +HGNC:14148 JMJD8 jumonji domain containing 8 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 C16orf20 chromosome 16 open reading frame 20 2000-12-21 2008-07-28 2008-07-28 2023-01-20 339123 ENSG00000161999 OTTHUMG00000172950 uc002ciw.2 NM_001005920 "CCDS45369|CCDS92075|CCDS92074" Q96S16 MGI:1919356 RGD:1307381 HGNC:14148 "ENST00000609261.6|NM_001005920.4" HGNC:28916 JMY junction mediating and regulatory protein, p53 cofactor protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "FLJ37870|WHAMM2" Wiskott-Aldrich Syndrome protein family 14 2009-02-06 2023-01-20 133746 ENSG00000152409 OTTHUMG00000131301 uc003kfx.5 AK095189 NM_152405 CCDS4047 Q8N9B5 "10518217|22316129" MGI:1913096 RGD:1585601 604279 HGNC:28916 "ENST00000396137.5|NM_152405.5" HGNC:28953 JOSD1 Josephin domain containing 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 KIAA0063 MJD deubiquinating enzymes 997 2005-11-10 2023-01-20 9929 ENSG00000100221 OTTHUMG00000151030 uc003awf.4 NM_014876 CCDS13976 Q15040 7584044 MGI:1921408 RGD:1305388 615323 C86.004 HGNC:28953 "ENST00000683374.1|NM_001360236.2" -HGNC:28853 JOSD2 Josephin domain containing 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 SBBI54 MJD deubiquinating enzymes 997 2005-11-10 2023-01-20 126119 ENSG00000161677 OTTHUMG00000183062 uc002psp.3 AF247787 NM_138334 "CCDS59413|CCDS12797" Q8TAC2 MGI:1913374 RGD:1307305 615324 C86.005 HGNC:28853 "ENST00000598418.6|NM_001270639.2" +HGNC:28853 JOSD2 Josephin domain containing 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 SBBI54 MJD deubiquinating enzymes 997 2005-11-10 2023-01-20 126119 ENSG00000161677 OTTHUMG00000183062 uc002psp.3 AF247787 NM_138334 "CCDS12797|CCDS59413" Q8TAC2 MGI:1913374 RGD:1307305 615324 C86.005 HGNC:28853 "ENST00000598418.6|NM_001270639.2" HGNC:14201 JPH1 junctophilin 1 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 JP-1 Junctophilins 1601 2000-12-08 2023-01-20 56704 ENSG00000104369 OTTHUMG00000164524 uc003yae.4 AB042634 NM_001317830 CCDS6217 Q9HDC5 "10891348|10949023" MGI:1891495 RGD:1308789 605266 470526 HGNC:14201 "ENST00000342232.5|NM_020647.4" HGNC:14202 JPH2 junctophilin 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 JP-2 Junctophilins 1601 2000-12-08 2023-01-20 57158 ENSG00000149596 OTTHUMG00000033037 uc002xli.2 AL034419 NM_020433 "CCDS13326|CCDS13325" Q9BR39 "10891348|10949023" MGI:1891496 RGD:1305196 LRG_394|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_394.xml 605267 264428 HGNC:14202 "ENST00000372980.4|NM_020433.5" HGNC:14202 HGNC:14203 JPH3 junctophilin 3 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "JP-3|CAGL237|HDL2|JP3" TNRC22 trinucleotide repeat containing 22 Junctophilins 1601 2000-12-08 2002-11-13 2023-01-20 57338 ENSG00000154118 OTTHUMG00000137656 uc002fkd.5 AB042636 NM_001271604 CCDS10962 Q8WXH2 "10949023|10891348" MGI:1891497 RGD:1308416 605268 122737 HGNC:14203 "ENST00000284262.3|NM_020655.4" HGNC:14203 HGNC:20156 JPH4 junctophilin 4 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 KIAA1831 JPHL1 junctophilin like 1 Junctophilins 1601 2002-12-18 2004-05-28 2004-05-28 2023-01-20 84502 ENSG00000092051 OTTHUMG00000028769 uc001wkr.2 AB058734 NM_032452 CCDS9603 Q96JJ6 11347906 MGI:2443113 RGD:1303170 619863 HGNC:20156 "ENST00000356300.9|NM_001146028.2" -HGNC:14569 JPT1 Jupiter microtubule associated homolog 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "ARM2|HN1A" androgen-regulated protein 2 HN1 hematological and neurological expressed 1 2001-02-08 2017-03-23 2017-03-23 2023-01-20 51155 ENSG00000189159 OTTHUMG00000154521 uc002jna.3 AF086910 NM_001002032 "CCDS45771|CCDS32729|CCDS45772" Q9UK76 "15094197|16518797" MGI:1096361 RGD:1359325 619242 HGNC:14569 "ENST00000409753.8|NM_016185.4" +HGNC:14569 JPT1 Jupiter microtubule associated homolog 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "ARM2|HN1A" androgen-regulated protein 2 HN1 hematological and neurological expressed 1 2001-02-08 2017-03-23 2017-03-23 2023-01-20 51155 ENSG00000189159 OTTHUMG00000154521 uc002jna.3 AF086910 NM_001002032 "CCDS45771|CCDS45772|CCDS32729" Q9UK76 "15094197|16518797" MGI:1096361 RGD:1359325 619242 HGNC:14569 "ENST00000409753.8|NM_016185.4" HGNC:54768 JPT1P1 JPT1 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 2020-01-08 2020-01-08 100130171 ENSG00000213148 NG_030139 HGNC:14137 JPT2 Jupiter microtubule associated homolog 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ13092|L11|KIAA1426" "C16orf34|HN1L" "chromosome 16 open reading frame 34|hematological and neurological expressed 1-like|hematological and neurological expressed 1 like" 2000-12-21 2017-03-23 2017-03-23 2023-01-20 90861 ENSG00000206053 OTTHUMG00000047859 uc002cmg.4 AK023154 NM_144570 CCDS10441 Q9H910 "15094197|16518797|33758061" MGI:1196260 RGD:1305117 619241 HGNC:14137 "ENST00000248098.8|NM_144570.3" HGNC:37191 JPX JPX transcript, XIST activator non-coding RNA RNA, long non-coding Approved Xq13.2 Xq13.2 "ENOX|LINC00183|DCBALD06" "just proximal to XIST|expressed neighbor of XIST" NCRNA00183 "non-protein coding RNA 183|JPX transcript, XIST activator (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2009-08-18 2011-04-21 2018-05-16 2018-05-16 554203 ENSG00000225470 OTTHUMG00000021840 uc004ebp.4 AV714079 NR_024582 "21029862|21254562" MGI:2180008 RGD:7726681 300832 Jpx JPX HGNC:37191 @@ -13649,44 +13650,44 @@ HGNC:6200 JRKL JRK like protein-coding gene gene with protein product Approved 1 HGNC:43670 JRKL-AS1 JRKL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q21 11q21 JRKL antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-30 2012-08-15 2012-10-12 100874053 ENSG00000255679 OTTHUMG00000167708 uc058gss.1 "AL706355|BE972282" NR_047481 JRKL-AS1 HGNC:43670 HGNC:24963 JSRP1 junctional sarcoplasmic reticulum protein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "JP-45|FLJ32416" homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45 2006-02-17 2023-01-20 126306 ENSG00000167476 OTTHUMG00000180413 uc002lvj.3 AK056978 NM_144616 CCDS12086 Q96MG2 12871958 MGI:1916700 608743 HGNC:24963 "ENST00000300961.10|NM_144616.4" HGNC:6201 JTB jumping translocation breakpoint protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "hJT|PAR" prostate androgen-regulated gene 2000-01-31 2023-01-20 10899 ENSG00000143543 OTTHUMG00000036590 uc001fds.4 AB016488 NM_006694 CCDS1057 O76095 "10321732|27751357|22079049" MGI:1346082 RGD:2942 604671 HGNC:6201 "ENST00000271843.9|NM_006694.4" -HGNC:56047 JTB-DT JTB divergent transcript non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 Divergent transcripts 1990 2021-12-08 2021-12-08 123706540 ENSG00000272654 +HGNC:56047 JTB-DT JTB divergent transcript non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 Divergent transcripts 1990 2021-12-08 2021-12-08 123706540 ENSG00000272654 NR_186180 HGNC:39180 JTBP1 jumping translocation breakpoint pseudogene 1 pseudogene pseudogene Approved 22q13.2 22q13.2 2010-11-16 2010-11-16 100874254 ENSG00000233603 OTTHUMG00000155620 NG_032231 PGOHUM00000246593 HGNC:39180 HGNC:6204 JUN Jun proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 1p32.1 01p32.1 "c-Jun|AP-1" "v-jun avian sarcoma virus 17 oncogene homolog|jun oncogene" "Basic leucine zipper proteins|Jun transcription factor family" "506|1257" 1988-05-11 2016-05-03 2023-01-20 3725 ENSG00000177606 OTTHUMG00000008376 uc001cze.4 AY217548 NM_002228 CCDS610 P05412 3194415 MGI:96646 RGD:2943 JUN 165160 HGNC:6204 "ENST00000371222.4|NM_002228.4" HGNC:6205 JUNB JunB proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "Basic leucine zipper proteins|Jun transcription factor family" "506|1257" 1990-09-10 2016-05-03 2023-01-20 3726 ENSG00000171223 OTTHUMG00000180373 uc002mvc.4 M29039 NM_002229 CCDS12280 P17275 2513129 MGI:96647 RGD:2944 165161 HGNC:6205 "ENST00000302754.6|NM_002229.3" HGNC:6206 JUND JunD proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 19p13.11 19p13.11 AP-1 "transcription factor jun-D|JunD-FL isoform|activator protein 1" "Basic leucine zipper proteins|Jun transcription factor family" "506|1257" 1990-09-10 2016-05-03 2023-01-20 3727 ENSG00000130522 OTTHUMG00000183355 uc002nip.4 NM_005354 CCDS32959 P17535 "2112242|1903194" MGI:96648 RGD:2945 165162 HGNC:6206 "ENST00000252818.5|NM_005354.6" HGNC:6207 JUP junction plakoglobin protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "DP3|PDGB|PKGB|DPIII|PG" desmosomal protein 3 CTNNG catenin (cadherin-associated protein), gamma 80kDa "Armadillo repeat containing|Beta catenins" "409|1542" 1991-03-04 2004-08-09 2023-01-20 3728 ENSG00000173801 OTTHUMG00000133494 uc002hxs.3 AF233882 NM_001352773 CCDS11407 P14923 "1889810|7604000" MGI:96650 RGD:620412 "Gene Connection for the Heart; Naxos disease database|http://www.fsm.it/cardmoc/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/JUP|LRG_401|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_401.xml" 173325 122744 HGNC:6207 "ENST00000393931.8|NM_002230.4" HGNC:6207 HGNC:21031 KAAG1 kidney associated DCDC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 "RU2|RU2AS" kidney associated antigen 1 Long non-coding RNAs with non-systematic symbols 1992 2003-05-20 2022-02-21 2023-03-15 353219 ENSG00000146049 OTTHUMG00000014354 uc003ndz.1 AF181722 NR_174942 Q9UBP8 10601354 608211 HGNC:21031 "ENST00000274766.2|NM_181337.4" -HGNC:4814 KALRN kalirin RhoGEF kinase protein-coding gene gene with protein product Approved 3q21.1-q21.2 03q21.1-q21.2 "duo|Hs.8004|TRAD|DUET|Kalirin|ARHGEF24|KALNC2" serine/threonine kinase with Dbl and pleckstrin homology domains HAPIP huntingtin-associated protein interacting protein (duo) "Fibronectin type III domain containing|I-set domain containing|Dbl family Rho GEFs|MicroRNA protein coding host genes" "555|593|722|1691" 1999-01-13 2005-03-12 2017-04-27 2023-05-03 8997 ENSG00000160145 OTTHUMG00000125545 uc062neo.1 U94190 NM_003947 "CCDS3028|CCDS93363|CCDS93362|CCDS93361|CCDS82829|CCDS3027|CCDS93360|CCDS93359" O60229 "9285789|10023074" MGI:2685385 RGD:621865 604605 objectId:2050 HGNC:4814 "ENST00000682506.1|NM_001388419.1" -HGNC:19309 KANK1 KN motif and ankyrin repeat domains 1 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "KIAA0172|KANK" ANKRD15 ankyrin repeat domain 15 KN motif and ankyrin repeat domain containing 623 2003-11-18 2008-01-29 2008-01-29 2023-01-20 23189 ENSG00000107104 OTTHUMG00000019434 uc003zgl.3 AL833161 NM_015158 "CCDS94372|CCDS94374|CCDS6441|CCDS94373|CCDS34976" Q14678 "12133830|17996375|19554261" MGI:2147707 RGD:1307714 607704 160296 HGNC:19309 "ENST00000382297.7|NM_015158.5" HGNC:19309 +HGNC:4814 KALRN kalirin RhoGEF kinase protein-coding gene gene with protein product Approved 3q21.1-q21.2 03q21.1-q21.2 "duo|Hs.8004|TRAD|DUET|Kalirin|ARHGEF24|KALNC2" serine/threonine kinase with Dbl and pleckstrin homology domains HAPIP huntingtin-associated protein interacting protein (duo) "Fibronectin type III domain containing|I-set domain containing|Dbl family Rho GEFs|MicroRNA protein coding host genes" "555|593|722|1691" 1999-01-13 2005-03-12 2017-04-27 2023-05-03 8997 ENSG00000160145 OTTHUMG00000125545 uc062neo.1 U94190 NM_003947 "CCDS93362|CCDS93363|CCDS3028|CCDS93361|CCDS93360|CCDS82829|CCDS93359|CCDS3027" O60229 "9285789|10023074" MGI:2685385 RGD:621865 604605 objectId:2050 HGNC:4814 "ENST00000682506.1|NM_001388419.1" +HGNC:19309 KANK1 KN motif and ankyrin repeat domains 1 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "KIAA0172|KANK" ANKRD15 ankyrin repeat domain 15 KN motif and ankyrin repeat domain containing 623 2003-11-18 2008-01-29 2008-01-29 2023-01-20 23189 ENSG00000107104 OTTHUMG00000019434 uc003zgl.3 AL833161 NM_015158 "CCDS6441|CCDS94374|CCDS94373|CCDS94372|CCDS34976" Q14678 "12133830|17996375|19554261" MGI:2147707 RGD:1307714 607704 160296 HGNC:19309 "ENST00000382297.7|NM_015158.5" HGNC:19309 HGNC:52337 KANK1P1 KN motif and ankyrin repeat domains 1 pseudogene 1 pseudogene pseudogene Approved 20p12.3 20p12.3 2016-07-25 2016-07-25 100862705 ENSG00000215589 OTTHUMG00000031815 NG_032127 PGOHUM00000296891 HGNC:52337 -HGNC:29300 KANK2 KN motif and ankyrin repeat domains 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 KIAA1518 "MXRA3|ANKRD25" "matrix-remodelling associated 3|ankyrin repeat domain 25" KN motif and ankyrin repeat domain containing 623 2004-02-02 2008-01-29 2008-01-29 2023-01-20 25959 ENSG00000197256 OTTHUMG00000180799 uc002mqo.5 AK000011 NM_015493 "CCDS54219|CCDS12255" Q63ZY3 "10819331|17996375|19554261" MGI:2384568 RGD:2320289 614610 431623 HGNC:29300 "ENST00000586659.6|NM_001136191.3" HGNC:29300 +HGNC:29300 KANK2 KN motif and ankyrin repeat domains 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 KIAA1518 "MXRA3|ANKRD25" "matrix-remodelling associated 3|ankyrin repeat domain 25" KN motif and ankyrin repeat domain containing 623 2004-02-02 2008-01-29 2008-01-29 2023-01-20 25959 ENSG00000197256 OTTHUMG00000180799 uc002mqo.5 AK000011 NM_015493 "CCDS12255|CCDS54219" Q63ZY3 "10819331|17996375|19554261" MGI:2384568 RGD:2320289 614610 431623 HGNC:29300 "ENST00000586659.6|NM_001136191.3" HGNC:29300 HGNC:24796 KANK3 KN motif and ankyrin repeat domains 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ46061 ANKRD47 ankyrin repeat domain 47 KN motif and ankyrin repeat domain containing 623 2005-08-01 2008-01-29 2008-01-29 2023-01-20 256949 ENSG00000186994 OTTHUMG00000182461 uc010dwa.3 AK128815 NM_198471 CCDS12199 Q6NY19 "17996375|19554261" MGI:1098615 RGD:1308853 614611 HGNC:24796 "ENST00000330915.7|NM_198471.3" -HGNC:27263 KANK4 KN motif and ankyrin repeat domains 4 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 KIAA0172 ANKRD38 ankyrin repeat domain 38 KN motif and ankyrin repeat domain containing 623 2005-05-23 2008-01-29 2008-01-29 2023-01-20 163782 ENSG00000132854 OTTHUMG00000008971 uc001dah.5 AK096259 NM_181712 "CCDS81334|CCDS620" Q5T7N3 "17996375|19554261" MGI:3043381 RGD:1307635 614612 HGNC:27263 "ENST00000371153.9|NM_181712.5" -HGNC:24565 KANSL1 KAT8 regulatory NSL complex subunit 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "DKFZP727C091|MSL1v1|CENP-36|NSL1" centromere protein 36 KIAA1267 KIAA1267 NSL histone acetyltransferase complex 1482 2005-12-16 2012-02-20 2012-02-20 2023-01-20 284058 ENSG00000120071 OTTHUMG00000178026 uc060gju.1 BX538006 NM_015443 "CCDS74084|CCDS11503|CCDS92348" Q7Z3B3 10574462 MGI:1923969 RGD:1311429 612452 303739 HGNC:24565 "ENST00000432791.7|NM_015443.4" HGNC:24565 +HGNC:27263 KANK4 KN motif and ankyrin repeat domains 4 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 KIAA0172 ANKRD38 ankyrin repeat domain 38 KN motif and ankyrin repeat domain containing 623 2005-05-23 2008-01-29 2008-01-29 2023-01-20 163782 ENSG00000132854 OTTHUMG00000008971 uc001dah.5 AK096259 NM_181712 "CCDS620|CCDS81334" Q5T7N3 "17996375|19554261" MGI:3043381 RGD:1307635 614612 HGNC:27263 "ENST00000371153.9|NM_181712.5" +HGNC:24565 KANSL1 KAT8 regulatory NSL complex subunit 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "DKFZP727C091|MSL1v1|CENP-36|NSL1" centromere protein 36 KIAA1267 KIAA1267 NSL histone acetyltransferase complex 1482 2005-12-16 2012-02-20 2012-02-20 2023-01-20 284058 ENSG00000120071 OTTHUMG00000178026 uc060gju.1 BX538006 NM_015443 "CCDS11503|CCDS74084|CCDS92348" Q7Z3B3 10574462 MGI:1923969 RGD:1311429 612452 303739 HGNC:24565 "ENST00000432791.7|NM_015443.4" HGNC:24565 HGNC:43740 KANSL1-AS1 KANSL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 KANSL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-20 2012-08-15 2012-10-12 644246 ENSG00000214401 OTTHUMG00000178028 uc002ike.4 NR_034172 KANSL1-AS1 HGNC:43740 HGNC:26310 KANSL1L KAT8 regulatory NSL complex subunit 1 like protein-coding gene gene with protein product Approved 2q34 02q34 "FLJ23861|FLJ32349|MSL1v2|KIAA1267L" KIAA1267-like C2orf67 "chromosome 2 open reading frame 67|KAT8 regulatory NSL complex subunit 1-like" 2008-02-21 2012-02-20 2015-11-12 2023-01-20 151050 ENSG00000144445 OTTHUMG00000154697 uc002vds.4 AK074441 NM_152519 "CCDS77519|CCDS33370" A0AUZ9 12477932 MGI:1915941 RGD:1590799 613833 HGNC:26310 "ENST00000281772.14|NM_152519.4" HGNC:41139 KANSL1L-AS1 KANSL1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q34 02q34 Antisense RNAs 1987 2019-07-24 2019-07-24 101928020 ENSG00000229127 OTTHUMG00000154698 NR_110291 HGNC:41139 HGNC:26024 KANSL2 KAT8 regulatory NSL complex subunit 2 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "FLJ20436|NSL2" C12orf41 chromosome 12 open reading frame 41 "NSL histone acetyltransferase complex|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1482|1691|1835" 2006-01-23 2011-10-31 2011-10-31 2023-01-20 54934 ENSG00000139620 OTTHUMG00000170392 uc001rrx.4 AK094528 NM_017822 CCDS44869 Q9H9L4 24788516 MGI:1916862 RGD:1303127 615488 470528 HGNC:26024 "ENST00000420613.7|NM_017822.4" HGNC:25473 KANSL3 KAT8 regulatory NSL complex subunit 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "FLJ10081|Rcd1|NSL3" KIAA1310 KIAA1310 NSL histone acetyltransferase complex 1482 2007-11-27 2011-10-31 2011-10-31 2023-03-15 55683 ENSG00000114982 OTTHUMG00000155249 uc002swn.6 BC063792 NM_017991 "CCDS92814|CCDS46361" Q9P2N6 MGI:1918055 RGD:1309220 617742 HGNC:25473 "ENST00000431828.6|NM_001115016.3" HGNC:49510 KANTR KANTR integral membrane protein protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 Spasm LINC01155 "long intergenic non-protein coding RNA 1155|KDM5C adjacent non-coding transcript|KDM5C adjacent transcript" 2014-01-01 2014-05-20 2021-11-18 2023-01-20 102723508 ENSG00000232593 OTTHUMG00000021603 "EF565109|CF994433" NM_001397448 CCDS94609 "24381249|29106417" MGI:1920247 RGD:10045415 301019 HGNC:49510 "ENST00000604062.7|NM_001397448.1" -HGNC:6215 KARS1 lysyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 KARS2 lysine tRNA ligase "DFNB89|KARS" "deafness, autosomal recessive 89|lysyl-tRNA synthetase" Aminoacyl tRNA synthetases, Class II 132 1995-07-11 2019-07-15 2019-07-15 2023-01-20 3735 ENSG00000065427 OTTHUMG00000137609 uc002fer.4 AF285758 NM_005548 "CCDS45532|CCDS10923" Q15046 "8812440|9278442|23768514" MGI:1934754 RGD:1359653 LRG_366|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_366.xml 601421 266184 6.1.1.6 HGNC:6215 "ENST00000302445.8|NM_005548.3" HGNC:6215 +HGNC:6215 KARS1 lysyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 KARS2 lysine tRNA ligase "DFNB89|KARS" "deafness, autosomal recessive 89|lysyl-tRNA synthetase" Aminoacyl tRNA synthetases, Class II 132 1995-07-11 2019-07-15 2019-07-15 2023-01-20 3735 ENSG00000065427 OTTHUMG00000137609 uc002fer.4 AF285758 NM_005548 "CCDS10923|CCDS45532" Q15046 "8812440|9278442|23768514" MGI:1934754 RGD:1359653 LRG_366|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_366.xml 601421 266184 6.1.1.6 HGNC:6215 "ENST00000302445.8|NM_005548.3" HGNC:6215 HGNC:39207 KARS1P1 lysyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 KARSP1 lysyl-tRNA synthetase pseudogene 1 2010-11-23 2019-07-15 2019-07-15 2019-07-15 100419558 ENSG00000229696 OTTHUMG00000016797 NG_024918 PGOHUM00000248573 HGNC:39207 HGNC:39208 KARS1P2 lysyl-tRNA synthetase 1 pseudogene 2 pseudogene pseudogene Approved 13q34 13q34 KARSP2 lysyl-tRNA synthetase pseudogene 2 2010-11-23 2019-07-15 2019-07-15 2019-07-15 100419560 ENSG00000230371 OTTHUMG00000017375 NG_009258 PGOHUM00000248686 HGNC:39208 HGNC:39209 KARS1P3 lysyl-tRNA synthetase 1 pseudogene 3 pseudogene pseudogene Approved 16q22.1 16q22.1 KARSP3 lysyl-tRNA synthetase pseudogene 3 2010-11-23 2019-07-15 2019-07-15 2019-07-15 100132079 ENSG00000262962 OTTHUMG00000177459 NG_028877 PGOHUM00000248914 HGNC:39209 HGNC:26520 KASH5 KASH domain containing 5 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FLJ32658 CCDC155 coiled-coil domain containing 155 KASH domain containing 2010 2008-08-07 2020-01-31 2020-01-31 2023-01-20 147872 ENSG00000161609 OTTHUMG00000183170 uc002pnm.3 NM_144688 CCDS46140 Q8N6L0 MGI:2687329 RGD:1561972 618125 HGNC:26520 "ENST00000447857.8|NM_144688.5" HGNC:4201 KAT2A lysine acetyltransferase 2A protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "GCN5|PCAF-b" GCN5L2 "GCN5 general control of amino-acid synthesis 5-like 2 (yeast)|K(lysine) acetyltransferase 2A" "Lysine acetyltransferases|ATAC complex|SAGA complex|GCN5 related N-acetyltransferases|Bromodomain containing" "486|1058|1059|1134|1232" 1996-12-17 2008-07-04 2016-02-12 2023-01-20 2648 ENSG00000108773 OTTHUMG00000133504 uc002hyx.3 AF029777 NM_021078 CCDS11417 Q92830 8552087 MGI:1343101 RGD:1307242 602301 objectId:2736 HGNC:4201 "ENST00000225916.10|NM_021078.3" HGNC:8638 KAT2B lysine acetyltransferase 2B protein-coding gene gene with protein product Approved 3p24.3 03p24.3 "P/CAF|GCN5|GCN5L" PCAF "p300/CBP-associated factor|K(lysine) acetyltransferase 2B" "Lysine acetyltransferases|ATAC complex|SAGA complex|GCN5 related N-acetyltransferases|Bromodomain containing|MicroRNA protein coding host genes" "486|1058|1059|1134|1232|1691" 1999-02-10 2008-07-04 2016-02-12 2023-01-20 8850 ENSG00000114166 OTTHUMG00000130481 uc003cbq.4 U57316 NM_003884 CCDS2634 Q92831 "8684459|9722949" MGI:1343094 RGD:1305902 602303 objectId:2737 HGNC:8638 "ENST00000263754.5|NM_003884.5" -HGNC:5275 KAT5 lysine acetyltransferase 5 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "TIP60|PLIP|cPLA2|HTATIP1|ESA1|ZC2HC5" "Tat interacting protein, 60kDa|K-acetyltransferase 5" HTATIP "HIV-1 Tat interactive protein, 60kDa|K(lysine) acetyltransferase 5" "Zinc fingers C2HC-type|MYST type domain containing lysine acetyltransferases|Tip60/Nua4 histone acetyltransferase complex subunits" "66|1584|1634" 2000-04-13 2008-07-04 2016-02-12 2023-01-20 10524 ENSG00000172977 OTTHUMG00000166617 uc001ofi.4 U74667 NM_006388 "CCDS55771|CCDS31610|CCDS8110|CCDS8109" Q92993 8607265 MGI:1932051 RGD:621061 601409 objectId:2664 HGNC:5275 "ENST00000341318.9|NM_182710.3" HGNC:5275 -HGNC:13013 KAT6A lysine acetyltransferase 6A protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "MOZ|ZC2HC6A" Monocytic leukemia zinc finger protein "ZNF220|RUNXBP2|MYST3" "runt-related transcription factor binding protein 2|MYST histone acetyltransferase (monocytic leukemia) 3|K(lysine) acetyltransferase 6A" "Zinc fingers C2HC-type|PHD finger proteins|MYST type domain containing lysine acetyltransferases" "66|88|1584" 1999-09-29 2011-07-21 2016-02-12 2023-01-20 7994 ENSG00000083168 OTTHUMG00000150453 uc010lxc.3 U47742 NM_006766 "CCDS83290|CCDS6124" Q92794 "8849440|8782817" MGI:2442415 RGD:1304892 KAT6A 601408 376575 objectId:2665 HGNC:13013 "ENST00000265713.8|NM_006766.5" HGNC:13013 +HGNC:5275 KAT5 lysine acetyltransferase 5 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "TIP60|PLIP|cPLA2|HTATIP1|ESA1|ZC2HC5" "Tat interacting protein, 60kDa|K-acetyltransferase 5" HTATIP "HIV-1 Tat interactive protein, 60kDa|K(lysine) acetyltransferase 5" "Zinc fingers C2HC-type|MYST type domain containing lysine acetyltransferases|Tip60/Nua4 histone acetyltransferase complex subunits" "66|1584|1634" 2000-04-13 2008-07-04 2016-02-12 2023-01-20 10524 ENSG00000172977 OTTHUMG00000166617 uc001ofi.4 U74667 NM_006388 "CCDS8110|CCDS31610|CCDS8109|CCDS55771" Q92993 8607265 MGI:1932051 RGD:621061 601409 objectId:2664 HGNC:5275 "ENST00000341318.9|NM_182710.3" HGNC:5275 +HGNC:13013 KAT6A lysine acetyltransferase 6A protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "MOZ|ZC2HC6A" Monocytic leukemia zinc finger protein "ZNF220|RUNXBP2|MYST3" "runt-related transcription factor binding protein 2|MYST histone acetyltransferase (monocytic leukemia) 3|K(lysine) acetyltransferase 6A" "Zinc fingers C2HC-type|PHD finger proteins|MYST type domain containing lysine acetyltransferases" "66|88|1584" 1999-09-29 2011-07-21 2016-02-12 2023-01-20 7994 ENSG00000083168 OTTHUMG00000150453 uc010lxc.3 U47742 NM_006766 "CCDS6124|CCDS83290" Q92794 "8849440|8782817" MGI:2442415 RGD:1304892 KAT6A 601408 376575 objectId:2665 HGNC:13013 "ENST00000265713.8|NM_006766.5" HGNC:13013 HGNC:56157 KAT6A-AS1 KAT6A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p11.21 08p11.21 Antisense RNAs 1987 2022-01-13 2022-01-13 105379393 NR_136589 -HGNC:17582 KAT6B lysine acetyltransferase 6B protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "querkopf|qkf|Morf|MOZ2|ZC2HC6B" MOZ-related factor MYST4 "MYST histone acetyltransferase (monocytic leukemia) 4|K(lysine) acetyltransferase 6B" "Zinc fingers C2HC-type|PHD finger proteins|MYST type domain containing lysine acetyltransferases" "66|88|1584" 2003-06-03 2011-07-21 2016-02-12 2023-01-20 23522 ENSG00000156650 OTTHUMG00000018509 uc001jwn.3 AF113514 NM_012330 "CCDS7345|CCDS58085|CCDS58084" Q8WYB5 "9205841|10497217" MGI:1858746 RGD:1566399 KAT6B 605880 285156 objectId:2666 HGNC:17582 "ENST00000287239.10|NM_012330.4" HGNC:17582 -HGNC:17016 KAT7 lysine acetyltransferase 7 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "HBOA|HBO1|ZC2HC7" histone acetyltransferase binding to ORC1 MYST2 "MYST histone acetyltransferase 2|K(lysine) acetyltransferase 7" "Zinc fingers C2HC-type|MYST type domain containing lysine acetyltransferases" "66|1584" 2003-06-03 2011-07-21 2016-02-12 2023-01-20 11143 ENSG00000136504 OTTHUMG00000161770 uc002ipm.4 AF074606 NM_007067 "CCDS56036|CCDS56038|CCDS56035|CCDS56037|CCDS11554" O95251 "10438470|10930412" MGI:2182799 RGD:727966 609880 objectId:2667 2.3.1.48 HGNC:17016 "ENST00000259021.9|NM_007067.5" +HGNC:17582 KAT6B lysine acetyltransferase 6B protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "querkopf|qkf|Morf|MOZ2|ZC2HC6B" MOZ-related factor MYST4 "MYST histone acetyltransferase (monocytic leukemia) 4|K(lysine) acetyltransferase 6B" "Zinc fingers C2HC-type|PHD finger proteins|MYST type domain containing lysine acetyltransferases" "66|88|1584" 2003-06-03 2011-07-21 2016-02-12 2023-01-20 23522 ENSG00000156650 OTTHUMG00000018509 uc001jwn.3 AF113514 NM_012330 "CCDS58085|CCDS58084|CCDS7345" Q8WYB5 "9205841|10497217" MGI:1858746 RGD:1566399 KAT6B 605880 285156 objectId:2666 HGNC:17582 "ENST00000287239.10|NM_012330.4" HGNC:17582 +HGNC:17016 KAT7 lysine acetyltransferase 7 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "HBOA|HBO1|ZC2HC7" histone acetyltransferase binding to ORC1 MYST2 "MYST histone acetyltransferase 2|K(lysine) acetyltransferase 7" "Zinc fingers C2HC-type|MYST type domain containing lysine acetyltransferases" "66|1584" 2003-06-03 2011-07-21 2016-02-12 2023-01-20 11143 ENSG00000136504 OTTHUMG00000161770 uc002ipm.4 AF074606 NM_007067 "CCDS56037|CCDS56038|CCDS56035|CCDS11554|CCDS56036" O95251 "10438470|10930412" MGI:2182799 RGD:727966 609880 objectId:2667 2.3.1.48 HGNC:17016 "ENST00000259021.9|NM_007067.5" HGNC:55026 KAT7P1 KAT7 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-28 2020-05-28 648927 ENSG00000232842 NG_030159 HGNC:17933 KAT8 lysine acetyltransferase 8 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "MOF|FLJ14040|hMOF|ZC2HC8" MYST1 "MYST histone acetyltransferase 1|K(lysine) acetyltransferase 8" "Zinc fingers C2HC-type|MSL histone acetyltransferase complex|NSL histone acetyltransferase complex|MYST type domain containing lysine acetyltransferases" "66|1481|1482|1584" 2002-08-06 2011-07-21 2016-02-12 2023-01-20 84148 ENSG00000103510 OTTHUMG00000132410 uc002eay.4 AF217501 NM_032188 "CCDS10706|CCDS45468" Q9H7Z6 10786633 MGI:1915023 RGD:1311512 609912 objectId:2668 2.3.1.48 HGNC:17933 "ENST00000219797.9|NM_032188.3" HGNC:17933 HGNC:15904 KAT14 lysine acetyltransferase 14 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "CRP2BP|dJ717M23.1|PRO1194|ATAC2" "cysteine rich protein 2 binding protein|ATAC component 2 homolog (Drosophila)" CSRP2BP CSRP2 binding protein "Lysine acetyltransferases|ATAC complex|GCN5 related N-acetyltransferases" "486|1058|1134" 2001-06-21 2016-04-25 2016-04-25 2023-03-15 57325 ENSG00000149474 OTTHUMG00000031962 uc021wbb.2 AF252257 NM_020536 "CCDS93011|CCDS13133" Q9H8E8 "9286703|10924333|19103755" MGI:1917264 RGD:1309538 617501 HGNC:15904 "ENST00000688188.1|NM_001392073.1" -HGNC:6216 KATNA1 katanin catalytic subunit A1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "katanin p60 (ATPase-containing) subunit A 1|katanin p60 (ATPase containing) subunit A 1" AAA ATPases 413 1999-08-25 2016-03-21 2023-01-20 11104 ENSG00000186625 OTTHUMG00000015787 uc003qms.4 AF056022 NM_007044 "CCDS56456|CCDS5217" O75449 9658175 MGI:1344353 RGD:1303062 606696 objectId:2912 HGNC:6216 "ENST00000367411.7|NM_007044.4" +HGNC:6216 KATNA1 katanin catalytic subunit A1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "katanin p60 (ATPase-containing) subunit A 1|katanin p60 (ATPase containing) subunit A 1" AAA ATPases 413 1999-08-25 2016-03-21 2023-01-20 11104 ENSG00000186625 OTTHUMG00000015787 uc003qms.4 AF056022 NM_007044 "CCDS5217|CCDS56456" O75449 9658175 MGI:1344353 RGD:1303062 606696 objectId:2912 HGNC:6216 "ENST00000367411.7|NM_007044.4" HGNC:28361 KATNAL1 katanin catalytic subunit A1 like 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 MGC2599 "katanin p60 subunit A-like 1|katanin p60 subunit A like 1|katanin catalytic subunit A like 1" AAA ATPases 413 2004-03-16 2016-03-21 2023-01-20 84056 ENSG00000102781 OTTHUMG00000016665 uc001ust.5 AK097423 NM_032116 CCDS31956 Q9BW62 19302785 MGI:2387638 RGD:1359252 614764 HGNC:28361 "ENST00000380615.8|NM_032116.5" -HGNC:25387 KATNAL2 katanin catalytic subunit A1 like 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "MGC33211|DKFZP667C165" "katanin p60 subunit A-like 2|katanin p60 subunit A like 2|katanin catalytic subunit A like 2" AAA ATPases 413 2005-01-14 2016-03-21 2023-01-20 83473 ENSG00000167216 OTTHUMG00000179408 uc060ows.1 BC034999 NM_031303 "CCDS32828|CCDS92456|CCDS92458|CCDS92457" Q8IYT4 26153462 MGI:1924234 RGD:1564708 614697 470530 HGNC:25387 "ENST00000683218.1|NM_001387690.1" HGNC:25387 +HGNC:25387 KATNAL2 katanin catalytic subunit A1 like 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "MGC33211|DKFZP667C165" "katanin p60 subunit A-like 2|katanin p60 subunit A like 2|katanin catalytic subunit A like 2" AAA ATPases 413 2005-01-14 2016-03-21 2023-01-20 83473 ENSG00000167216 OTTHUMG00000179408 uc060ows.1 BC034999 NM_031303 "CCDS92457|CCDS32828|CCDS92458|CCDS92456" Q8IYT4 26153462 MGI:1924234 RGD:1564708 614697 470530 HGNC:25387 "ENST00000683218.1|NM_001387690.1" HGNC:25387 HGNC:6217 KATNB1 katanin regulatory subunit B1 protein-coding gene gene with protein product Approved 16q21 16q21 "katanin p80 (WD40-containing) subunit B 1|katanin p80 (WD repeat containing) subunit B 1" WD repeat domain containing 362 1999-08-25 2016-03-21 2023-01-20 10300 ENSG00000140854 OTTHUMG00000133467 uc002eml.2 AF052432 NM_005886 CCDS10788 Q9BVA0 9568719 MGI:1921437 RGD:1311256 602703 448624 HGNC:6217 "ENST00000379661.8|NM_005886.3" HGNC:6217 HGNC:26199 KATNBL1 katanin regulatory subunit B1 like 1 protein-coding gene gene with protein product Approved 15q14 15q14 FLJ22557 C15orf29 "chromosome 15 open reading frame 29|katanin p80 subunit B-like 1" 2004-07-02 2012-09-27 2016-03-21 2023-01-20 79768 ENSG00000134152 OTTHUMG00000129368 uc001zhp.4 AL136908 NM_024713 CCDS10034 Q9H079 11230166 MGI:1919675 RGD:1582771 616235 HGNC:26199 "ENST00000256544.8|NM_024713.3" HGNC:39724 KATNBL1P1 katanin regulatory subunit B1 like 1 pseudogene 1 pseudogene pseudogene Approved 13q12.2 13q12.2 katanin p80 subunit B-like 1 pseudogene 1 2013-08-19 2016-03-21 2016-03-21 100420919 ENSG00000271026 OTTHUMG00000184858 NG_024907 PGOHUM00000292114 HGNC:39724 @@ -13697,11 +13698,11 @@ HGNC:49055 KATNBL1P5 katanin regulatory subunit B1 like 1 pseudogene 5 pseudogen HGNC:49056 KATNBL1P6 katanin regulatory subunit B1 like 1 pseudogene 6 pseudogene pseudogene Approved 6q24.3 06q24.3 katanin p80 subunit B-like 1 pseudogene 6 2013-08-19 2016-03-21 2016-03-21 729176 ENSG00000228283 OTTHUMG00000015759 NR_003954 PGOHUM00000301588 HGNC:49056 HGNC:29068 KATNIP katanin interacting protein protein-coding gene gene with protein product Approved 16p12.1 16p12.1 JBTS26 KIAA0556 KIAA0556 2006-08-25 2020-04-02 2020-04-02 2023-01-20 23247 ENSG00000047578 OTTHUMG00000176780 uc002dow.4 AB011128 NM_015202 CCDS32415 O60303 "9628581|26714646" MGI:2442760 RGD:1595846 616650 448873 HGNC:29068 "ENST00000261588.10|NM_015202.5" HGNC:29068 HGNC:25460 KAZALD1 Kazal type serine peptidase inhibitor domain 1 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FKSG40|FKSG28" "Kazal-type serine protease inhibitor domain 1|Kazal-type serine peptidase inhibitor domain 1" I-set domain containing 593 2004-04-21 2016-02-01 2023-01-20 81621 ENSG00000107821 OTTHUMG00000018918 uc001ksr.4 AF333487 NM_030929 CCDS7509 Q96I82 12975309 MGI:2147606 RGD:1310698 609208 HGNC:25460 "ENST00000370200.6|NM_030929.5" -HGNC:29173 KAZN kazrin, periplakin interacting protein protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "KIAA1026|KAZRIN|FLJ43806" C1orf196 chromosome 1 open reading frame 196 Sterile alpha motif domain containing 760 2011-01-31 2011-01-31 2023-01-20 23254 ENSG00000189337 OTTHUMG00000002042 uc001avm.5 AY505119 NM_001017999 "CCDS41268|CCDS30604|CCDS152|CCDS41267" Q674X7 "15337775|18840647" MGI:1918779 RGD:1359147 618301 HGNC:29173 "ENST00000376030.7|NM_201628.3" +HGNC:29173 KAZN kazrin, periplakin interacting protein protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "KIAA1026|KAZRIN|FLJ43806" C1orf196 chromosome 1 open reading frame 196 Sterile alpha motif domain containing 760 2011-01-31 2011-01-31 2023-01-20 23254 ENSG00000189337 OTTHUMG00000002042 uc001avm.5 AY505119 NM_001017999 "CCDS41267|CCDS30604|CCDS41268|CCDS152" Q674X7 "15337775|18840647" MGI:1918779 RGD:1359147 618301 HGNC:29173 "ENST00000376030.7|NM_201628.3" HGNC:53610 KAZN-AS1 KAZN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 ENST00000447908 Antisense RNAs 1987 2017-07-05 2017-07-05 105376762 ENSG00000234593 OTTHUMG00000002044 NR_149058 26975198 HGNC:53610 HGNC:21751 KBTBD2 kelch repeat and BTB domain containing 2 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 DKFZP566C134 BKLHD1 "BTB and kelch domain containing 1|kelch repeat and BTB (POZ) domain containing 2" BTB domain containing 861 2003-07-22 2003-12-12 2016-02-12 2023-01-20 25948 ENSG00000170852 OTTHUMG00000152984 uc003tdb.3 AB040922 NM_015483 CCDS34614 Q8IY47 10819331 MGI:2384811 RGD:1310317 619393 HGNC:21751 "ENST00000304056.9|NM_015483.3" HGNC:22934 KBTBD3 kelch repeat and BTB domain containing 3 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 BKLHD3 "BTB and kelch domain containing 3|kelch repeat and BTB (POZ) domain containing 3" BTB domain containing 861 2003-07-23 2003-12-17 2016-02-12 2023-01-20 143879 ENSG00000182359 OTTHUMG00000166251 uc001pjb.4 AK055247 NM_152433 "CCDS8334|CCDS81621" Q8NAB2 MGI:1916399 RGD:1310895 HGNC:22934 "ENST00000531837.2|NM_198439.3" -HGNC:23761 KBTBD4 kelch repeat and BTB domain containing 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ10450|HSPC252" BKLHD4 "BTB and kelch domain containing 4|kelch repeat and BTB (POZ) domain containing 4" BTB domain containing 861 2003-12-08 2003-12-17 2016-02-12 2023-01-20 55709 ENSG00000123444 OTTHUMG00000166894 uc001nfx.4 AF151086 NM_016506 "CCDS44594|CCDS81566|CCDS7940" Q9NVX7 11042152 MGI:1914386 RGD:1310234 617645 HGNC:23761 "ENST00000430070.7|NM_018095.6" +HGNC:23761 KBTBD4 kelch repeat and BTB domain containing 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ10450|HSPC252" BKLHD4 "BTB and kelch domain containing 4|kelch repeat and BTB (POZ) domain containing 4" BTB domain containing 861 2003-12-08 2003-12-17 2016-02-12 2023-01-20 55709 ENSG00000123444 OTTHUMG00000166894 uc001nfx.4 AF151086 NM_016506 "CCDS7940|CCDS44594|CCDS81566" Q9NVX7 11042152 MGI:1914386 RGD:1310234 617645 HGNC:23761 "ENST00000430070.7|NM_018095.6" HGNC:25340 KBTBD6 kelch repeat and BTB domain containing 6 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 DKFZp547E1912 kelch repeat and BTB (POZ) domain containing 6 BTB domain containing 861 2003-12-16 2016-02-12 2023-01-20 89890 ENSG00000165572 OTTHUMG00000016786 uc001uxu.2 AK056633 NM_152903 CCDS9376 Q86V97 25684205 MGI:3643058 RGD:1305086 617738 HGNC:25340 "ENST00000379485.2|NM_152903.5" HGNC:56824 KBTBD6-DT KBTBD6 divergent transcript non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 AL354696.2 Divergent transcripts 1990 2023-05-04 2023-05-04 101929140 ENSG00000278390 NR_120423 36826505 HGNC:25266 KBTBD7 kelch repeat and BTB domain containing 7 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 DKFZP434E2318 kelch repeat and BTB (POZ) domain containing 7 BTB domain containing 861 2003-12-16 2016-02-12 2023-01-20 84078 ENSG00000120696 OTTHUMG00000016789 uc001uxw.2 AL136782 NM_032138 CCDS9377 Q8WVZ9 11230166 MGI:2685141 RGD:6501695 617739 HGNC:25266 "ENST00000379483.4|NM_032138.7" @@ -13714,23 +13715,23 @@ HGNC:37227 KBTBD13 kelch repeat and BTB domain containing 13 protein-coding gene HGNC:20589 KCMF1 potassium channel modulatory factor 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "DEBT91|PCMF|DKFZP434L1021|ZZZ1" Zinc fingers ZZ-type 91 2003-08-06 2023-01-20 56888 ENSG00000176407 OTTHUMG00000153004 uc002sox.5 AF155652 NM_020122 CCDS46350 Q9P0J7 25582440 MGI:1921537 RGD:1591490 614719 HGNC:20589 "ENST00000409785.9|NM_020122.5" HGNC:6218 KCNA1 potassium voltage-gated channel subfamily A member 1 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "Kv1.1|RBK1|HUK1|MBK1" AEMK potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3736 ENSG00000111262 OTTHUMG00000044398 uc001qnh.4 L02750 NM_000217 CCDS8535 Q09470 "1349297|8821794|16382104" MGI:96654 RGD:2949 LRG_1297|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1297.xml 176260 122756 objectId:538 HGNC:6218 "ENST00000382545.5|NM_000217.3" HGNC:6218 HGNC:6220 KCNA2 potassium voltage-gated channel subfamily A member 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "Kv1.2|HK4" potassium voltage-gated channel, shaker-related subfamily, member 2 Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3737 ENSG00000177301 OTTHUMG00000011567 uc057jgb.2 L02752 NM_004974 "CCDS827|CCDS55625" P16389 16382104 MGI:96659 RGD:2950 176262 446524 objectId:539 HGNC:6220 "ENST00000316361.10|NM_004974.4" HGNC:6220 -HGNC:6221 KCNA3 potassium voltage-gated channel subfamily A member 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "Kv1.3|MK3|HLK3|HPCN3" "potassium voltage-gated channel, shaker-related subfamily, member 3|potassium channel" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3738 ENSG00000177272 OTTHUMG00000034493 uc001dzv.3 L23499 NM_002232 CCDS828 P22001 "2251283|16382104" MGI:96660 RGD:2951 176263 objectId:540 HGNC:6221 "ENST00000369769.4|NM_002232.5" +HGNC:6221 KCNA3 potassium voltage-gated channel subfamily A member 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "Kv1.3|MK3|HLK3|HPCN3|RP11-284N8.3" "potassium voltage-gated channel, shaker-related subfamily, member 3|potassium channel" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-06-08 3738 ENSG00000177272 OTTHUMG00000034493 uc001dzv.3 L23499 NM_002232 CCDS828 P22001 "2251283|16382104" MGI:96660 RGD:2951 176263 objectId:540 HGNC:6221 "ENST00000369769.4|NM_002232.5" HGNC:6222 KCNA4 potassium voltage-gated channel subfamily A member 4 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "Kv1.4|HK1|HPCN2|PCN2" KCNA4L "potassium voltage-gated channel, shaker-related subfamily, member 4-like|potassium voltage-gated channel, shaker-related subfamily, member 4" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3739 ENSG00000182255 OTTHUMG00000166144 uc001msk.4 M55514 NM_002233 CCDS41629 P22459 "2263489|16382104" MGI:96661 RGD:2952 176266 objectId:541 HGNC:6222 "ENST00000328224.7|NM_002233.4" HGNC:6222 HGNC:6224 KCNA5 potassium voltage-gated channel subfamily A member 5 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "Kv1.5|HK2|HPCN1" potassium voltage-gated channel, shaker-related subfamily, member 5 Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3741 ENSG00000130037 OTTHUMG00000168232 uc001qni.5 M83254 NM_002234 CCDS8536 P22460 16382104 MGI:96662 RGD:2953 176267 168086 objectId:542 HGNC:6224 "ENST00000252321.5|NM_002234.4" HGNC:6224 HGNC:6225 KCNA6 potassium voltage-gated channel subfamily A member 6 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "Kv1.6|HBK2|PPP1R96" protein phosphatase 1, regulatory subunit 96 potassium voltage-gated channel, shaker-related subfamily, member 6 "Potassium voltage-gated channels|Protein phosphatase 1 regulatory subunits" "274|694" 1991-08-13 2016-02-04 2023-01-20 3742 ENSG00000151079 OTTHUMG00000168225 uc058kap.1 X17622 NM_002235 CCDS8534 P17658 16382104 MGI:96663 RGD:62083 176257 objectId:543 HGNC:6225 "ENST00000280684.4|NM_002235.5" HGNC:6226 KCNA7 potassium voltage-gated channel subfamily A member 7 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "Kv1.7|HAK6" potassium voltage-gated channel, shaker-related subfamily, member 7 Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3743 ENSG00000104848 OTTHUMG00000183343 uc002pmg.3 AF315818 NM_031886 CCDS12755 Q96RP8 16382104 MGI:96664 RGD:1309632 176268 objectId:544 HGNC:6226 "ENST00000221444.2|NM_031886.3" HGNC:6219 KCNA10 potassium voltage-gated channel subfamily A member 10 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 Kv1.8 potassium voltage-gated channel, shaker-related subfamily, member 10 Potassium voltage-gated channels 274 1997-02-19 2016-02-04 2023-01-20 3744 ENSG00000143105 OTTHUMG00000022785 uc001dzt.2 U96110 NM_005549 CCDS826 Q16322 16382104 MGI:3037820 RGD:1304667 602420 objectId:545 HGNC:6219 "ENST00000369771.4|NM_005549.2" -HGNC:6228 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "AKR6A3|KCNA1B|hKvBeta3|Kvb1.3|hKvb3" K+ channel Beta1a chain "potassium voltage-gated channel, shaker-related subfamily, beta member 1|potassium voltage-gated channel subfamily A member regulatory beta subunit 1" "Aldo-keto reductases|Potassium voltage-gated channel regulatory subunits" "399|858" 1998-10-13 2021-04-21 2023-01-20 7881 ENSG00000169282 OTTHUMG00000158552 uc011bon.2 U33428 NM_003471 "CCDS3175|CCDS3174|CCDS77845|CCDS77844|CCDS33882" Q14722 "8838324|7499366" MGI:109155 RGD:61827 601141 HGNC:6228 "ENST00000490337.6|NM_172160.3" +HGNC:6228 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "AKR6A3|KCNA1B|hKvBeta3|Kvb1.3|hKvb3" K+ channel Beta1a chain "potassium voltage-gated channel, shaker-related subfamily, beta member 1|potassium voltage-gated channel subfamily A member regulatory beta subunit 1" "Aldo-keto reductases|Potassium voltage-gated channel regulatory subunits" "399|858" 1998-10-13 2021-04-21 2023-01-20 7881 ENSG00000169282 OTTHUMG00000158552 uc011bon.2 U33428 NM_003471 "CCDS3175|CCDS33882|CCDS3174|CCDS77844|CCDS77845" Q14722 "8838324|7499366" MGI:109155 RGD:61827 601141 HGNC:6228 "ENST00000490337.6|NM_172160.3" HGNC:40316 KCNAB1-AS1 KCNAB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 KCNAB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874084 ENSG00000242370 OTTHUMG00000158616 uc031scd.1 NR_046618 KCNAB1-AS1 HGNC:40316 HGNC:40315 KCNAB1-AS2 KCNAB1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 KCNAB1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874083 ENSG00000240596 OTTHUMG00000158548 uc031scc.1 NR_046617 KCNAB1-AS2 HGNC:40315 -HGNC:6229 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "AKR6A5|KCNA2B|HKvbeta2.1|HKvbeta2.2" "potassium voltage-gated channel, shaker-related subfamily, beta member 2|potassium channel, voltage gated subfamily A regulatory beta subunit 2" "Aldo-keto reductases|Potassium voltage-gated channel regulatory subunits" "399|858" 1998-10-13 2016-02-04 2023-01-20 8514 ENSG00000069424 OTTHUMG00000000795 uc009vlv.3 U33429 NM_172130 "CCDS55571|CCDS55|CCDS56|CCDS55570" Q13303 8838324 MGI:109239 RGD:61828 601142 311145 HGNC:6229 "ENST00000378083.8|NM_001199862.2" +HGNC:6229 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "AKR6A5|KCNA2B|HKvbeta2.1|HKvbeta2.2" "potassium voltage-gated channel, shaker-related subfamily, beta member 2|potassium channel, voltage gated subfamily A regulatory beta subunit 2" "Aldo-keto reductases|Potassium voltage-gated channel regulatory subunits" "399|858" 1998-10-13 2016-02-04 2023-01-20 8514 ENSG00000069424 OTTHUMG00000000795 uc009vlv.3 U33429 NM_172130 "CCDS55571|CCDS55|CCDS55570|CCDS56" Q13303 8838324 MGI:109239 RGD:61828 601142 311145 HGNC:6229 "ENST00000378083.8|NM_001199862.2" HGNC:6230 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "AKR6A9|KCNA3B" "potassium voltage-gated channel, shaker-related subfamily, beta member 3|potassium channel, voltage gated subfamily A regulatory beta subunit 3" "Aldo-keto reductases|Potassium voltage-gated channel regulatory subunits" "399|858" 1999-03-02 2016-02-04 2023-01-20 9196 ENSG00000170049 OTTHUMG00000108170 uc002gjm.2 AF016411 NM_004732 CCDS11124 O43448 9857044 MGI:1336208 RGD:61830 604111 HGNC:6230 "ENST00000303790.3|NM_004732.4" HGNC:6231 KCNB1 potassium voltage-gated channel subfamily B member 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 Kv2.1 potassium voltage-gated channel, Shab-related subfamily, member 1 Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3745 ENSG00000158445 OTTHUMG00000033051 uc002xur.3 AF026005 NM_004975 CCDS13418 Q14721 "7774931|16382104" MGI:96666 RGD:2954 600397 413979 objectId:546 HGNC:6231 "ENST00000371741.6|NM_004975.4" HGNC:6231 HGNC:6232 KCNB2 potassium voltage-gated channel subfamily B member 2 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 Kv2.2 potassium voltage-gated channel, Shab-related subfamily, member 2 Potassium voltage-gated channels 274 1999-06-09 2016-02-04 2023-01-20 9312 ENSG00000182674 OTTHUMG00000164498 uc003xzb.3 U69962 NM_004770 CCDS6209 Q92953 "9612272|16382104" MGI:99632 RGD:621349 607738 objectId:547 HGNC:6232 "ENST00000523207.2|NM_004770.3" -HGNC:6233 KCNC1 potassium voltage-gated channel subfamily C member 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 Kv3.1 "potassium voltage-gated channel, Shaw-related subfamily, member 1|potassium channel, voltage gated Shaw related subfamily C, member 1" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3746 ENSG00000129159 OTTHUMG00000166359 uc009yhc.2 M96747 NM_004976 "CCDS44547|CCDS7827" P48547 "8449507|16382104" MGI:96667 RGD:2955 176258 444112 objectId:548 HGNC:6233 "ENST00000265969.8|NM_001112741.2" HGNC:6233 -HGNC:6234 KCNC2 potassium voltage-gated channel subfamily C member 2 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 Kv3.2 "potassium voltage-gated channel, Shaw-related subfamily, member 2|potassium channel, voltage gated Shaw related subfamily C, member 2" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3747 ENSG00000166006 OTTHUMG00000169717 uc001sxg.3 AF268896 NM_153748 "CCDS9006|CCDS9007|CCDS58256|CCDS58257|CCDS9005|CCDS58255" Q96PR1 "8111118|16382104" MGI:96668 RGD:628829 176256 objectId:549 HGNC:6234 "ENST00000549446.6|NM_139137.4" +HGNC:6233 KCNC1 potassium voltage-gated channel subfamily C member 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 Kv3.1 "potassium voltage-gated channel, Shaw-related subfamily, member 1|potassium channel, voltage gated Shaw related subfamily C, member 1" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3746 ENSG00000129159 OTTHUMG00000166359 uc009yhc.2 M96747 NM_004976 "CCDS7827|CCDS44547" P48547 "8449507|16382104" MGI:96667 RGD:2955 176258 444112 objectId:548 HGNC:6233 "ENST00000265969.8|NM_001112741.2" HGNC:6233 +HGNC:6234 KCNC2 potassium voltage-gated channel subfamily C member 2 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 Kv3.2 "potassium voltage-gated channel, Shaw-related subfamily, member 2|potassium channel, voltage gated Shaw related subfamily C, member 2" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3747 ENSG00000166006 OTTHUMG00000169717 uc001sxg.3 AF268896 NM_153748 "CCDS9005|CCDS9006|CCDS58255|CCDS9007|CCDS58256|CCDS58257" Q96PR1 "8111118|16382104" MGI:96668 RGD:628829 176256 objectId:549 HGNC:6234 "ENST00000549446.6|NM_139137.4" HGNC:6235 KCNC3 potassium voltage-gated channel subfamily C member 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Kv3.3 SCA13 "spinocerebellar ataxia 13|potassium voltage-gated channel, Shaw-related subfamily, member 3|potassium channel, voltage gated Shaw related subfamily C, member 3" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3748 ENSG00000131398 OTTHUMG00000044580 uc002pru.1 AB208930 NM_004977 CCDS12793 Q14003 "1740329|8111118|16382104" MGI:96669 RGD:621358 LRG_668|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_668.xml 176264 159737 objectId:550 HGNC:6235 "ENST00000477616.2|NM_004977.3" HGNC:6235 -HGNC:6236 KCNC4 potassium voltage-gated channel subfamily C member 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "Kv3.4|HKSHIIIC" C1orf30 "chromosome 1 open reading frame 30|potassium voltage-gated channel, Shaw-related subfamily, member 4|potassium channel, voltage gated Shaw related subfamily C, member 4" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-03-15 3749 ENSG00000116396 OTTHUMG00000011037 uc001dzh.4 BC101769 NM_001039574 "CCDS44193|CCDS91021|CCDS821" Q03721 "1920536|1740329|16382104" MGI:96670 RGD:1589169 176265 objectId:551 HGNC:6236 "ENST00000438661.3|NM_001039574.3" +HGNC:6236 KCNC4 potassium voltage-gated channel subfamily C member 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "Kv3.4|HKSHIIIC" C1orf30 "chromosome 1 open reading frame 30|potassium voltage-gated channel, Shaw-related subfamily, member 4|potassium channel, voltage gated Shaw related subfamily C, member 4" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-03-15 3749 ENSG00000116396 OTTHUMG00000011037 uc001dzh.4 BC101769 NM_001039574 "CCDS821|CCDS44193|CCDS91021" Q03721 "1920536|1740329|16382104" MGI:96670 RGD:1589169 176265 objectId:551 HGNC:6236 "ENST00000438661.3|NM_001039574.3" HGNC:39958 KCNC4-DT KCNC4 divergent transcript non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 "KCNC4-AS1|LINC02586" "KCNC4 antisense RNA 1 (non-protein coding)|KCNC4 antisense RNA 1|KCNC4 antisense RNA 1 (head to head)|long intergenic non-protein coding RNA 2586" Divergent transcripts 1990 2011-04-18 2021-09-01 2021-09-01 2021-09-01 100873974 ENSG00000224965 OTTHUMG00000040850 uc031ule.2 NR_046546 KCNC4-AS1 HGNC:39958 HGNC:6237 KCND1 potassium voltage-gated channel subfamily D member 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 Kv4.1 "potassium voltage-gated channel, Shal-related subfamily, member 1|potassium channel, voltage gated Shal related subfamily D, member 1" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2023-01-20 3750 ENSG00000102057 OTTHUMG00000024127 uc004dlx.2 AF166003 NM_004979 CCDS14314 Q9NSA2 "10729221|16382104" MGI:96671 RGD:621364 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KCND1 300281 objectId:552 HGNC:6237 "ENST00000218176.4|NM_004979.6" HGNC:6238 KCND2 potassium voltage-gated channel subfamily D member 2 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 "Kv4.2|RK5|KIAA1044" potassium voltage-gated channel, Shal-related subfamily, member 2 Potassium voltage-gated channels 274 1992-10-05 2016-02-04 2023-01-20 3751 ENSG00000184408 OTTHUMG00000156989 uc003vjj.2 AJ010969 NM_012281 CCDS5776 Q9NZV8 "10551270|16382104" MGI:102663 RGD:68393 605410 objectId:553 HGNC:6238 "ENST00000331113.9|NM_012281.3" HGNC:6238 @@ -13745,30 +13746,30 @@ HGNC:6241 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 HGNC:6246 KCNF1 potassium voltage-gated channel modifier subfamily F member 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "Kv5.1|kH1|IK8" KCNF "potassium voltage-gated channel, subfamily F, member 1|potassium channel, voltage gated subfamily F, member 1" Potassium voltage-gated channels 274 1993-03-22 2016-02-04 2023-01-20 3754 ENSG00000162975 OTTHUMG00000119054 uc002rax.3 AF033382 NM_002236 CCDS1676 Q9H3M0 "9434767|16382104" MGI:2687399 RGD:631414 603787 objectId:555 HGNC:6246 "ENST00000295082.3|NM_002236.5" HGNC:6248 KCNG1 potassium voltage-gated channel modifier subfamily G member 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "Kv6.1|kH2|K13" KCNG potassium voltage-gated channel, subfamily G, member 1 Potassium voltage-gated channels 274 1993-03-22 2016-02-04 2023-01-20 3755 ENSG00000026559 OTTHUMG00000032745 uc002xwa.5 AF033383 NM_002237 CCDS13436 Q9UIX4 "9434767|16382104" MGI:3616086 RGD:631416 603788 objectId:556 HGNC:6248 "ENST00000371571.5|NM_002237.4" HGNC:6249 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 protein-coding gene gene with protein product Approved 18q23 18q23 "Kv6.2|KCNF2" potassium voltage-gated channel, subfamily G, member 2 Potassium voltage-gated channels 274 1999-12-21 2016-02-04 2023-01-20 26251 ENSG00000178342 OTTHUMG00000044541 uc010xfl.2 AJ011021 NM_012283 CCDS12019 Q9UJ96 "10551266|16382104" MGI:3694646 RGD:1309521 605696 objectId:557 HGNC:6249 "ENST00000316249.4|NM_012283.2" -HGNC:18306 KCNG3 potassium voltage-gated channel modifier subfamily G member 3 protein-coding gene gene with protein product Approved 2p21 02p21 Kv6.3 potassium voltage-gated channel, subfamily G, member 3 Potassium voltage-gated channels 274 2002-04-10 2016-02-04 2023-01-20 170850 ENSG00000171126 OTTHUMG00000128604 uc002rsn.3 AB070604 NM_172344 "CCDS42674|CCDS1809" Q8TAE7 "11852086|16382104" MGI:2663923 RGD:628832 606767 objectId:558 HGNC:18306 "ENST00000306078.2|NM_133329.6" +HGNC:18306 KCNG3 potassium voltage-gated channel modifier subfamily G member 3 protein-coding gene gene with protein product Approved 2p21 02p21 Kv6.3 potassium voltage-gated channel, subfamily G, member 3 Potassium voltage-gated channels 274 2002-04-10 2016-02-04 2023-01-20 170850 ENSG00000171126 OTTHUMG00000128604 uc002rsn.3 AB070604 NM_172344 "CCDS1809|CCDS42674" Q8TAE7 "11852086|16382104" MGI:2663923 RGD:628832 606767 objectId:558 HGNC:18306 "ENST00000306078.2|NM_133329.6" HGNC:19697 KCNG4 potassium voltage-gated channel modifier subfamily G member 4 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 Kv6.4 potassium voltage-gated channel, subfamily G, member 4 Potassium voltage-gated channels 274 2002-11-20 2016-02-04 2023-01-20 93107 ENSG00000168418 OTTHUMG00000137638 uc010voc.3 AF348984 NM_172347 CCDS10945 Q8TDN1 "12060745|16382104" MGI:1913983 RGD:1308553 607603 objectId:559 HGNC:19697 "ENST00000308251.6|NM_172347.3" HGNC:6250 KCNH1 potassium voltage-gated channel subfamily H member 1 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "Kv10.1|eag|h-eag|eag1|hEAG" ether-a-go-go 1 potassium voltage-gated channel, subfamily H (eag-related), member 1 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 1993-03-22 2016-02-04 2023-01-20 3756 ENSG00000143473 OTTHUMG00000036309 uc001hib.3 AJ001366 NM_002238 "CCDS31015|CCDS1496" O95259 "9738473|16382104" MGI:1341721 RGD:68398 603305 431495 objectId:570 HGNC:6250 "ENST00000271751.10|NM_172362.3" HGNC:6250 HGNC:41351 KCNH1-IT1 KCNH1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 KCNH1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-23 2015-02-25 2015-02-25 100874296 ENSG00000234233 OTTHUMG00000046162 uc057pdd.1 NR_046784 KCNH1-IT1 HGNC:41351 HGNC:6251 KCNH2 potassium voltage-gated channel subfamily H member 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "Kv11.1|HERG|erg1" "human ether-a-go-go-related gene|long QT syndrome type 2" LQT2 potassium voltage-gated channel, subfamily H (eag-related), member 2 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 1993-03-22 2016-02-04 2023-01-20 3757 ENSG00000055118 OTTHUMG00000158341 uc003wic.4 U04270 NM_000238 "CCDS5911|CCDS5910" Q12809 "18616963|7842012|8159766|16382104" MGI:1341722 RGD:621414 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|KCNH2 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=KCNH2|LRG_288|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_288.xml" 152427 122777 objectId:572 HGNC:6251 "ENST00000262186.10|NM_000238.4" HGNC:6251 HGNC:6252 KCNH3 potassium voltage-gated channel subfamily H member 3 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "Kv12.2|BEC1|elk2" potassium voltage-gated channel, subfamily H (eag-related), member 3 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 1999-12-14 2016-02-04 2023-01-20 23416 ENSG00000135519 OTTHUMG00000169517 uc001ruh.2 AB022696 NM_012284 CCDS8786 Q9ULD8 "10455180|16382104" MGI:1341723 RGD:71070 604527 objectId:576 HGNC:6252 "ENST00000257981.7|NM_012284.3" HGNC:6253 KCNH4 potassium voltage-gated channel subfamily H member 4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "Kv12.3|elk1" potassium voltage-gated channel, subfamily H (eag-related), member 4 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 1999-12-14 2016-02-04 2023-01-20 23415 ENSG00000089558 OTTHUMG00000180106 uc002hzb.3 AB022698 NM_012285 CCDS11420 Q9UQ05 "10455180|16382104" MGI:2156184 RGD:621415 604528 objectId:577 HGNC:6253 "ENST00000264661.4|NM_012285.3" -HGNC:6254 KCNH5 potassium voltage-gated channel subfamily H member 5 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "Kv10.2|H-EAG2|eag2|hEAG2" ether-a-go-go 2 potassium voltage-gated channel, subfamily H (eag-related), member 5 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 2000-02-02 2016-02-04 2023-03-15 27133 ENSG00000140015 OTTHUMG00000029041 uc001xfx.5 U69185 NM_139318 "CCDS45122|CCDS9756" Q8NCM2 "9738473|16382104" MGI:3584508 RGD:621417 605716 470532 objectId:571 HGNC:6254 "ENST00000322893.12|NM_139318.5" +HGNC:6254 KCNH5 potassium voltage-gated channel subfamily H member 5 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "Kv10.2|H-EAG2|eag2|hEAG2" ether-a-go-go 2 potassium voltage-gated channel, subfamily H (eag-related), member 5 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 2000-02-02 2016-02-04 2023-03-15 27133 ENSG00000140015 OTTHUMG00000029041 uc001xfx.5 U69185 NM_139318 "CCDS9756|CCDS45122" Q8NCM2 "9738473|16382104" MGI:3584508 RGD:621417 605716 470532 objectId:571 HGNC:6254 "ENST00000322893.12|NM_139318.5" HGNC:18862 KCNH6 potassium voltage-gated channel subfamily H member 6 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "Kv11.2|erg2|HERG2" potassium voltage-gated channel, subfamily H (eag-related), member 6 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 2002-07-10 2016-02-04 2023-01-20 81033 ENSG00000173826 OTTHUMG00000178901 uc002jay.5 AF311913 NM_030779 "CCDS62290|CCDS11639|CCDS11638" Q9H252 16382104 MGI:2684139 RGD:620304 608168 470534 objectId:573 HGNC:18862 "ENST00000314672.10|NM_001278919.2" -HGNC:18863 KCNH7 potassium voltage-gated channel subfamily H member 7 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "Kv11.3|HERG3|erg3" potassium voltage-gated channel, subfamily H (eag-related), member 7 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 2002-07-10 2016-02-04 2023-01-20 90134 ENSG00000184611 OTTHUMG00000132069 uc002uch.3 AF032897 NM_033272 "CCDS2220|CCDS2219" Q9NS40 16382104 MGI:2159566 RGD:621112 608169 objectId:574 HGNC:18863 "ENST00000332142.10|NM_033272.4" +HGNC:18863 KCNH7 potassium voltage-gated channel subfamily H member 7 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "Kv11.3|HERG3|erg3" potassium voltage-gated channel, subfamily H (eag-related), member 7 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 2002-07-10 2016-02-04 2023-01-20 90134 ENSG00000184611 OTTHUMG00000132069 uc002uch.3 AF032897 NM_033272 "CCDS2219|CCDS2220" Q9NS40 16382104 MGI:2159566 RGD:621112 608169 objectId:574 HGNC:18863 "ENST00000332142.10|NM_033272.4" HGNC:40858 KCNH7-AS1 KCNH7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Antisense RNAs 1987 2019-08-15 2019-08-15 101929570 ENSG00000237750 OTTHUMG00000153947 NR_110258 HGNC:40858 HGNC:18864 KCNH8 potassium voltage-gated channel subfamily H member 8 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 "Kv12.1|elk3" potassium voltage-gated channel, subfamily H (eag-related), member 8 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 2002-07-10 2016-02-04 2023-01-20 131096 ENSG00000183960 OTTHUMG00000129891 uc003cbk.2 AY053503 NM_144633 CCDS2632 Q96L42 16382104 MGI:2445160 RGD:2549 608260 objectId:575 HGNC:18864 "ENST00000328405.7|NM_144633.3" -HGNC:15521 KCNIP1 potassium voltage-gated channel interacting protein 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 KCHIP1 Kv channel interacting protein 1 "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing" "858|863" 2001-05-23 2016-02-04 2023-01-20 30820 ENSG00000182132 OTTHUMG00000130442 uc003map.5 AF199597 NM_001278339 "CCDS64313|CCDS34285|CCDS34286|CCDS4374|CCDS64312" Q9NZI2 10676964 MGI:1917607 RGD:70886 604660 HGNC:15521 "ENST00000328939.9|NM_014592.4" +HGNC:15521 KCNIP1 potassium voltage-gated channel interacting protein 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 KCHIP1 Kv channel interacting protein 1 "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing" "858|863" 2001-05-23 2016-02-04 2023-01-20 30820 ENSG00000182132 OTTHUMG00000130442 uc003map.5 AF199597 NM_001278339 "CCDS34285|CCDS64313|CCDS34286|CCDS4374|CCDS64312" Q9NZI2 10676964 MGI:1917607 RGD:70886 604660 HGNC:15521 "ENST00000328939.9|NM_014592.4" HGNC:40710 KCNIP1-AS1 KCNIP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.1 05q35.1 Antisense RNAs 1987 2019-08-15 2019-08-15 105377716 ENSG00000253591 OTTHUMG00000163148 NR_136214 HGNC:40710 HGNC:40320 KCNIP1-OT1 KCNIP1 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 5q35.1 05q35.1 Overlapping transcripts 1988 2019-08-15 2019-08-15 101928033 ENSG00000253647 OTTHUMG00000163147 NR_109899 HGNC:40320 -HGNC:15522 KCNIP2 potassium voltage-gated channel interacting protein 2 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 KCHIP2 Kv channel-interacting protein 2 "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing" "858|863" 2001-05-23 2016-02-04 2023-01-20 30819 ENSG00000120049 OTTHUMG00000018937 uc001kuf.4 NM_014591 "CCDS7526|CCDS7521|CCDS7525|CCDS41562|CCDS7524|CCDS7523|CCDS7522" Q9NS61 10676964 MGI:2135916 RGD:70887 604661 HGNC:15522 "ENST00000356640.7|NM_173191.3" +HGNC:15522 KCNIP2 potassium voltage-gated channel interacting protein 2 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 KCHIP2 Kv channel-interacting protein 2 "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing" "858|863" 2001-05-23 2016-02-04 2023-01-20 30819 ENSG00000120049 OTTHUMG00000018937 uc001kuf.4 NM_014591 "CCDS7524|CCDS41562|CCDS7521|CCDS7523|CCDS7522|CCDS7525|CCDS7526" Q9NS61 10676964 MGI:2135916 RGD:70887 604661 HGNC:15522 "ENST00000356640.7|NM_173191.3" HGNC:48680 KCNIP2-AS1 KCNIP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.32 10q24.32 Antisense RNAs 1987 2013-06-06 2013-06-06 100289509 ENSG00000226009 OTTHUMG00000018936 NR_045118 KCNIP2-AS1 HGNC:48680 HGNC:15523 KCNIP3 potassium voltage-gated channel interacting protein 3 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 "DREAM|KCHIP3" "calsenilin|DRE-antagonist modulator" CSEN "calsenilin, presenilin-binding protein, EF hand transcription factor|Kv channel interacting protein 3, calsenilin" "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing" "858|863" 2001-05-24 2006-02-11 2016-02-04 2023-01-20 30818 ENSG00000115041 OTTHUMG00000130392 uc002sup.4 AF199599 NM_013434 "CCDS33245|CCDS2013" Q9Y2W7 "9771752|10078534" MGI:1929258 RGD:70888 604662 470536 HGNC:15523 "ENST00000295225.10|NM_013434.5" -HGNC:30083 KCNIP4 potassium voltage-gated channel interacting protein 4 protein-coding gene gene with protein product Approved 4p15.31-p15.2 04p15.31-p15.2 "CALP|KCHIP4|MGC44947" Kv channel interacting protein 4 "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing|MicroRNA protein coding host genes" "858|863|1691" 2003-12-17 2016-02-04 2023-01-20 80333 ENSG00000185774 OTTHUMG00000128557 uc003gqf.2 AF453244 NM_025221 "CCDS87210|CCDS3428|CCDS47035|CCDS43217|CCDS43215|CCDS43216" Q6PIL6 "11805342|11847232" MGI:1933131 RGD:708539 608182 HGNC:30083 "ENST00000382152.7|NM_025221.6" +HGNC:30083 KCNIP4 potassium voltage-gated channel interacting protein 4 protein-coding gene gene with protein product Approved 4p15.31-p15.2 04p15.31-p15.2 "CALP|KCHIP4|MGC44947" Kv channel interacting protein 4 "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing|MicroRNA protein coding host genes" "858|863|1691" 2003-12-17 2016-02-04 2023-01-20 80333 ENSG00000185774 OTTHUMG00000128557 uc003gqf.2 AF453244 NM_025221 "CCDS43216|CCDS47035|CCDS43217|CCDS87210|CCDS3428|CCDS43215" Q6PIL6 "11805342|11847232" MGI:1933131 RGD:708539 608182 HGNC:30083 "ENST00000382152.7|NM_025221.6" HGNC:29895 KCNIP4-IT1 KCNIP4 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 4p15.2 04p15.2 UM9-5 non coding transcript UM9(5) NCRNA00099 "non-protein coding RNA 99|KCNIP4 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2008-09-04 2011-08-11 2015-02-25 2016-10-11 359822 ENSG00000280650 OTTHUMG00000189553 uc003gqj.1 BK000166 NR_002813 12515386 um9-5 KCNIP4-IT1 HGNC:29895 -HGNC:6255 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "Kir1.1|ROMK1" ATP-sensitive inward rectifier potassium channel 1 potassium inwardly-rectifying channel, subfamily J, member 1 Potassium inwardly rectifying channel subfamily J 276 1993-08-03 2019-07-19 2023-01-20 3758 ENSG00000151704 OTTHUMG00000048247 uc001qes.3 BC063109 NM_000220 "CCDS8477|CCDS8476" P48048 "7680431|8190102|16382105" MGI:1927248 RGD:2957 600359 122783 objectId:429 HGNC:6255 "ENST00000392666.6|NM_153766.3" HGNC:6255 +HGNC:6255 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "Kir1.1|ROMK1" ATP-sensitive inward rectifier potassium channel 1 potassium inwardly-rectifying channel, subfamily J, member 1 Potassium inwardly rectifying channel subfamily J 276 1993-08-03 2019-07-19 2023-01-20 3758 ENSG00000151704 OTTHUMG00000048247 uc001qes.3 BC063109 NM_000220 "CCDS8476|CCDS8477" P48048 "7680431|8190102|16382105" MGI:1927248 RGD:2957 600359 122783 objectId:429 HGNC:6255 "ENST00000392666.6|NM_153766.3" HGNC:6255 HGNC:6263 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 "Kir2.1|IRK1|LQT7" potassium inwardly-rectifying channel, subfamily J, member 2 Potassium inwardly rectifying channel subfamily J 276 1994-02-08 2019-07-19 2023-01-20 3759 ENSG00000123700 OTTHUMG00000180351 uc002jir.4 AF011904 NM_000891 CCDS11688 P63252 "7696590|11240146|16382105" MGI:104744 RGD:61968 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|KCNJ2 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=KCNJ2|LRG_328|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_328.xml" 600681 122791 objectId:430 HGNC:6263 "ENST00000243457.4|NM_000891.3" HGNC:6263 HGNC:43720 KCNJ2-AS1 KCNJ2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 FLJ36644 "KCNJ2 antisense RNA 1 (non-protein coding)|KCNJ2 antisense RNA 1|KCNJ2 antisense RNA 1 (head to head)" Antisense RNAs 1987 2012-02-03 2018-03-23 2018-03-23 400617 ENSG00000267365 OTTHUMG00000180350 uc021uci.1 AK093963 NR_036534 KCNJ2-AS1 HGNC:43720 -HGNC:6264 KCNJ3 potassium inwardly rectifying channel subfamily J member 3 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "Kir3.1|GIRK1|KGA" G protein-activated inward rectifier potassium channel 1 potassium inwardly-rectifying channel, subfamily J, member 3 Potassium inwardly rectifying channel subfamily J 276 1994-02-08 2019-07-19 2023-01-20 3760 ENSG00000162989 OTTHUMG00000131937 uc002tyv.3 U50964 NM_002239 "CCDS58733|CCDS2200" P48549 "8088798|16382105" MGI:104742 RGD:2958 601534 objectId:434 HGNC:6264 "ENST00000295101.3|NM_002239.4" +HGNC:6264 KCNJ3 potassium inwardly rectifying channel subfamily J member 3 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "Kir3.1|GIRK1|KGA" G protein-activated inward rectifier potassium channel 1 potassium inwardly-rectifying channel, subfamily J, member 3 Potassium inwardly rectifying channel subfamily J 276 1994-02-08 2019-07-19 2023-01-20 3760 ENSG00000162989 OTTHUMG00000131937 uc002tyv.3 U50964 NM_002239 "CCDS2200|CCDS58733" P48549 "8088798|16382105" MGI:104742 RGD:2958 601534 objectId:434 HGNC:6264 "ENST00000295101.3|NM_002239.4" HGNC:6265 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "Kir2.3|HIR|HRK1|hIRK2|IRK3" potassium inwardly-rectifying channel, subfamily J, member 4 Potassium inwardly rectifying channel subfamily J 276 1995-04-13 2019-07-19 2023-01-20 3761 ENSG00000168135 OTTHUMG00000151131 uc003avt.3 U07364 NM_004981 CCDS13971 P48050 "8016146|16382105" MGI:104743 RGD:621436 600504 objectId:432 HGNC:6265 "ENST00000303592.3|NM_152868.3" HGNC:6266 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "Kir3.4|CIR|KATP1|GIRK4|LQT13" G protein-activated inward rectifier potassium channel 4 potassium inwardly-rectifying channel, subfamily J, member 5 Potassium inwardly rectifying channel subfamily J 276 1995-04-13 2019-07-19 2023-01-20 3762 ENSG00000120457 OTTHUMG00000165795 uc001qet.4 D50134 NM_000890 CCDS8479 P48544 16382105 MGI:104755 RGD:61971 LRG_333|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_333.xml KCNJ5 600734 235181 objectId:437 HGNC:6266 "ENST00000529694.6|NM_000890.5" HGNC:6266 HGNC:28584 KCNJ5-AS1 KCNJ5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 "MGC35558|FLJ43646" C11orf45 chromosome 11 open reading frame 45 Antisense RNAs 1987 2005-10-28 2021-10-14 2021-10-14 2023-03-15 219833 ENSG00000174370 OTTHUMG00000165796 uc001qeu.3 AK125634 NR_045767 Q8TAV5 24840790 HGNC:28584 @@ -13777,7 +13778,7 @@ HGNC:41352 KCNJ6-AS1 KCNJ6 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:6269 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 Kir6.1 potassium inwardly-rectifying channel, subfamily J, member 8 Potassium inwardly rectifying channel subfamily J 276 1995-07-18 2019-07-19 2023-01-20 3764 ENSG00000121361 OTTHUMG00000169093 uc001rff.4 BC000544 NM_004982 CCDS8692 Q15842 "8595887|16382105" MGI:1100508 RGD:2960 600935 297206 objectId:441 HGNC:6269 "ENST00000240662.3|NM_004982.4" HGNC:6269 HGNC:6270 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "Kir3.3|GIRK3" G protein-activated inward rectifier potassium channel 3 potassium inwardly-rectifying channel, subfamily J, member 9 Potassium inwardly rectifying channel subfamily J 276 1996-07-26 2019-07-19 2023-01-20 3765 ENSG00000162728 OTTHUMG00000024072 uc001fuy.2 U52152 NM_004983 CCDS1194 Q92806 "8575783|16382105" MGI:108007 RGD:621440 600932 objectId:436 HGNC:6270 "ENST00000368088.4|NM_004983.3" HGNC:6256 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "Kir4.1|Kir1.2" potassium inwardly-rectifying channel, subfamily J, member 10 Potassium inwardly rectifying channel subfamily J 276 1996-07-26 2019-07-19 2023-01-20 3766 ENSG00000177807 OTTHUMG00000024073 uc001fuw.3 U52155 NM_002241 CCDS1193 P78508 "9367690|8995301|16382105" MGI:1194504 RGD:61822 602208 189344 objectId:438 HGNC:6256 "ENST00000644903.1|NM_002241.5" HGNC:6256 -HGNC:6257 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "Kir6.2|BIR" "ATP-sensitive inward rectifier potassium channel 11|beta-cell inward rectifier" potassium inwardly-rectifying channel, subfamily J, member 11 Potassium inwardly rectifying channel subfamily J 276 1997-09-12 2019-07-19 2023-01-20 3767 ENSG00000187486 OTTHUMG00000165914 uc001mna.4 D50582 NM_000525 "CCDS31436|CCDS53606" Q14654 "7502040|16382105" MGI:107501 RGD:69247 600937 122787 objectId:442 HGNC:6257 "ENST00000339994.5|NM_000525.4" HGNC:6257 +HGNC:6257 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "Kir6.2|BIR" "ATP-sensitive inward rectifier potassium channel 11|beta-cell inward rectifier" potassium inwardly-rectifying channel, subfamily J, member 11 Potassium inwardly rectifying channel subfamily J 276 1997-09-12 2019-07-19 2023-01-20 3767 ENSG00000187486 OTTHUMG00000165914 uc001mna.4 D50582 NM_000525 "CCDS53606|CCDS31436" Q14654 "7502040|16382105" MGI:107501 RGD:69247 600937 122787 objectId:442 HGNC:6257 "ENST00000339994.5|NM_000525.4" HGNC:6257 HGNC:6258 KCNJ12 potassium inwardly rectifying channel subfamily J member 12 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "Kir2.2|Kir2.2v|IRK2|hIRK1" KCNJN1 "potassium inwardly-rectifying channel, subfamily J, inhibitor 1|potassium inwardly-rectifying channel, subfamily J, member 12" Potassium inwardly rectifying channel subfamily J 276 1996-11-11 2019-07-19 2023-01-20 3768 ENSG00000184185 OTTHUMG00000132039 uc002gyv.2 L36069 NM_021012 CCDS11219 Q14500 "7859381|12417321|16382105" MGI:108495 RGD:621660 602323 objectId:431 HGNC:6258 "ENST00000583088.6|NM_021012.5" HGNC:6259 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "Kir7.1|Kir1.4|LCA16" potassium inwardly-rectifying channel, subfamily J, member 13 Potassium inwardly rectifying channel subfamily J 276 1998-08-10 2019-07-19 2023-01-20 3769 ENSG00000115474 OTTHUMG00000153292 uc002vtp.4 AJ006128 NM_002242 "CCDS54437|CCDS2498" O60928 "9878260|9620703|16382105" MGI:3781032 RGD:621661 603208 159740 objectId:443 HGNC:6259 "ENST00000233826.4|NM_002242.4" HGNC:6259 HGNC:6260 KCNJ14 potassium inwardly rectifying channel subfamily J member 14 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "Kir2.4|IRK4" potassium inwardly-rectifying channel, subfamily J, member 14 Potassium inwardly rectifying channel subfamily J 276 1998-08-10 2019-07-19 2023-01-20 3770 ENSG00000182324 OTTHUMG00000183307 uc002pje.3 BC042033 NM_013348 CCDS12721 Q9UNX9 "9592090|10723734|16382105" MGI:2384820 RGD:628872 603953 objectId:433 HGNC:6260 "ENST00000342291.3|NM_013348.4" @@ -13785,7 +13786,7 @@ HGNC:6261 KCNJ15 potassium inwardly rectifying channel subfamily J member 15 pro HGNC:6262 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 "Kir5.1|BIR9" potassium inwardly-rectifying channel, subfamily J, member 16 Potassium inwardly rectifying channel subfamily J 276 1998-05-29 2019-07-19 2023-01-20 3773 ENSG00000153822 OTTHUMG00000180349 uc031reh.2 AF153815 NM_018658 CCDS11687 Q9NPI9 "11240146|16382105" MGI:1314842 RGD:61824 605722 objectId:440 HGNC:6262 "ENST00000392671.6|NM_170741.4" HGNC:39080 KCNJ18 potassium inwardly rectifying channel subfamily J member 18 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "KIR2.6|TTPP2" potassium inwardly-rectifying channel, subfamily J, member 18 Potassium inwardly rectifying channel subfamily J 276 2010-10-05 2019-07-19 2023-01-20 100134444 ENSG00000260458 OTTHUMG00000175863 uc032exz.1 NM_001194958 CCDS74015 B7U540 20074522 MGI:108495 613236 310433 HGNC:39080 "ENST00000567955.3|NM_001194958.2" HGNC:39080 HGNC:6272 KCNK1 potassium two pore domain channel subfamily K member 1 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "K2p1.1|DPK|TWIK-1" tandem of P domains in a weak inward rectifying K+ channel 1 "potassium channel, subfamily K, member 1|potassium channel, two pore domain subfamily K, member 1" "Potassium two pore domain channel subfamily K |MicroRNA protein coding host genes" "277|1691" 1997-04-16 2016-02-04 2023-01-20 3775 ENSG00000135750 OTTHUMG00000037923 uc010pxo.1 U33632 NM_002245 CCDS1599 O00180 "8661042|16382106" MGI:109322 RGD:621447 601745 objectId:513 HGNC:6272 "ENST00000366621.8|NM_002245.4" -HGNC:6277 KCNK2 potassium two pore domain channel subfamily K member 2 protein-coding gene gene with protein product Approved 1q41 01q41 "K2p2.1|TREK-1" "potassium channel, subfamily K, member 2|potassium channel, two pore domain subfamily K, member 2" Potassium two pore domain channel subfamily K 277 1998-04-03 2016-02-04 2023-01-20 3776 ENSG00000082482 OTTHUMG00000037017 uc001hkr.5 AF004711 NM_014217 "CCDS41466|CCDS31024|CCDS41467" O95069 "9721223|16382106" MGI:109366 RGD:621448 603219 objectId:514 HGNC:6277 "ENST00000444842.7|NM_001017425.3" +HGNC:6277 KCNK2 potassium two pore domain channel subfamily K member 2 protein-coding gene gene with protein product Approved 1q41 01q41 "K2p2.1|TREK-1" "potassium channel, subfamily K, member 2|potassium channel, two pore domain subfamily K, member 2" Potassium two pore domain channel subfamily K 277 1998-04-03 2016-02-04 2023-01-20 3776 ENSG00000082482 OTTHUMG00000037017 uc001hkr.5 AF004711 NM_014217 "CCDS41467|CCDS41466|CCDS31024" O95069 "9721223|16382106" MGI:109366 RGD:621448 603219 objectId:514 HGNC:6277 "ENST00000444842.7|NM_001017425.3" HGNC:6278 KCNK3 potassium two pore domain channel subfamily K member 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "K2p3.1|TASK|TASK-1|TASK1" TWIK-related acid-sensitive K+ 1 "potassium channel, subfamily K, member 3|potassium channel, two pore domain subfamily K, member 3" Potassium two pore domain channel subfamily K 277 1997-12-12 2016-02-04 2023-01-20 3777 ENSG00000171303 OTTHUMG00000125530 uc002rhn.3 AF006823 NM_002246 CCDS1727 O14649 "9312005|9721223|16382106" MGI:1100509 RGD:61997 603220 360868 objectId:515 HGNC:6278 "ENST00000302909.4|NM_002246.3" HGNC:6278 HGNC:6279 KCNK4 potassium two pore domain channel subfamily K member 4 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "K2p4.1|TRAAK" "potassium channel, subfamily K, member 4|potassium channel, two pore domain subfamily K, member 4" Potassium two pore domain channel subfamily K 277 2000-04-13 2016-02-04 2023-01-20 50801 ENSG00000182450 OTTHUMG00000168006 uc001nzj.2 AF247042 NM_033311 CCDS8067 Q9NYG8 "10767409|16382106" MGI:1298234 RGD:621449 605720 objectId:516 HGNC:6279 "ENST00000422670.7|NM_033310.3" HGNC:6279 HGNC:56753 KCNK4-CATSPERZ KCNK4-CATSPERZ readthrough (NMD candidate) other readthrough Approved 11q13.1 11q13.1 2023-02-22 2023-02-22 106780802 ENSG00000257069 NR_133662 @@ -13793,37 +13794,37 @@ HGNC:6280 KCNK5 potassium two pore domain channel subfamily K member 5 protein-c HGNC:6281 KCNK6 potassium two pore domain channel subfamily K member 6 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "K2p6.1|TWIK-2" "potassium channel, subfamily K, member 6|potassium channel, two pore domain subfamily K, member 6" Potassium two pore domain channel subfamily K 277 1999-04-07 2016-02-04 2023-01-20 9424 ENSG00000099337 OTTHUMG00000182325 uc002oic.4 AF117708 NM_004823 CCDS12513 Q9Y257 "10075682|10393428|16382106" MGI:1891291 RGD:621450 603939 objectId:518 HGNC:6281 "ENST00000263372.5|NM_004823.3" HGNC:6282 KCNK7 potassium two pore domain channel subfamily K member 7 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 K2p7.1 "potassium channel, subfamily K, member 7|potassium channel, two pore domain subfamily K, member 7" Potassium two pore domain channel subfamily K 277 1999-07-09 2016-02-04 2023-01-20 10089 ENSG00000173338 OTTHUMG00000166528 uc001oes.3 AF110522 NM_005714 "CCDS8106|CCDS31608|CCDS41673" Q9Y2U2 "10206991|11256078|16382106" MGI:1341841 RGD:1565025 603940 objectId:519 HGNC:6282 "ENST00000340313.5|NM_033347.2" HGNC:6283 KCNK9 potassium two pore domain channel subfamily K member 9 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "K2p9.1|TASK3|TASK-3" TWIK-related acid-sensitive K+ 3 "potassium channel, subfamily K, member 9|potassium channel, two pore domain subfamily K, member 9" Potassium two pore domain channel subfamily K 277 2000-05-26 2016-02-04 2023-01-20 51305 ENSG00000169427 OTTHUMG00000164186 uc064qpg.1 AF212829 NM_016601 CCDS6377 Q9NPC2 "10734076|16382106" MGI:3521816 RGD:621451 LRG_1042|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1042.xml 605874 166255 objectId:520 HGNC:6283 "ENST00000520439.3|NM_001282534.2" HGNC:6283 -HGNC:6273 KCNK10 potassium two pore domain channel subfamily K member 10 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "K2p10.1|TREK-2|TREK2|PPP1R97" protein phosphatase 1, regulatory subunit 97 "potassium channel, subfamily K, member 10|potassium channel, two pore domain subfamily K, member 10" "Potassium two pore domain channel subfamily K |Protein phosphatase 1 regulatory subunits" "277|694" 2001-06-22 2016-02-04 2023-01-20 54207 ENSG00000100433 OTTHUMG00000170743 uc001xwn.4 AF279890 NM_021161 "CCDS9880|CCDS9882|CCDS9881" P57789 "10880510|16382106" MGI:1919508 RGD:619732 605873 objectId:521 HGNC:6273 "ENST00000319231.10|NM_138317.3" +HGNC:6273 KCNK10 potassium two pore domain channel subfamily K member 10 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "K2p10.1|TREK-2|TREK2|PPP1R97" protein phosphatase 1, regulatory subunit 97 "potassium channel, subfamily K, member 10|potassium channel, two pore domain subfamily K, member 10" "Potassium two pore domain channel subfamily K |Protein phosphatase 1 regulatory subunits" "277|694" 2001-06-22 2016-02-04 2023-01-20 54207 ENSG00000100433 OTTHUMG00000170743 uc001xwn.4 AF279890 NM_021161 "CCDS9882|CCDS9880|CCDS9881" P57789 "10880510|16382106" MGI:1919508 RGD:619732 605873 objectId:521 HGNC:6273 "ENST00000319231.10|NM_138317.3" HGNC:6274 KCNK12 potassium two pore domain channel subfamily K member 12 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "THIK-2|THIK2|K2p12.1" "potassium channel, subfamily K, member 12|potassium channel, two pore domain subfamily K, member 12" Potassium two pore domain channel subfamily K 277 2000-07-31 2016-02-04 2023-01-20 56660 ENSG00000184261 OTTHUMG00000129131 uc002rwb.4 AF287302 NM_022055 CCDS1835 Q9HB15 11060316 MGI:2684043 RGD:68940 607366 objectId:522 HGNC:6274 "ENST00000327876.5|NM_022055.2" HGNC:6275 KCNK13 potassium two pore domain channel subfamily K member 13 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "K2p13.1|THIK-1|THIK1" "potassium channel, subfamily K, member 13|potassium channel, two pore domain subfamily K, member 13" Potassium two pore domain channel subfamily K 277 2000-07-31 2016-02-04 2023-01-20 56659 ENSG00000152315 OTTHUMG00000171017 uc001xye.2 AF287303 NM_022054 CCDS9889 Q9HB14 "11060316|16382106" MGI:2384976 RGD:68941 607367 objectId:523 HGNC:6275 "ENST00000282146.5|NM_022054.4" HGNC:13814 KCNK15 potassium two pore domain channel subfamily K member 15 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "K2p15.1|dJ781B1.1|KT3.3|KIAA0237|TASK5|TASK-5" TWIK-related acid-sensitive K+ 5 "KCNK11|KCNK14" "potassium channel, subfamily K, member 15|potassium channel, two pore domain subfamily K, member 15" Potassium two pore domain channel subfamily K 277 2000-11-15 2016-02-04 2023-01-20 60598 ENSG00000124249 OTTHUMG00000032544 uc002xmr.4 AF257081 NM_022358 CCDS13337 Q9H427 "11409881|11431495|16382106" MGI:2675209 RGD:619733 607368 objectId:524 HGNC:13814 "ENST00000372861.5|NM_022358.4" HGNC:49901 KCNK15-AS1 KCNK15 and WISP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 RP11-445H22.4 KCNK15 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-03-20 2018-03-23 2018-04-09 106144538 ENSG00000244558 OTTHUMG00000032545 BF195580 NR_132377 25430712 HGNC:49901 -HGNC:14464 KCNK16 potassium two pore domain channel subfamily K member 16 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "K2p16.1|TALK-1|TALK1" "potassium channel, subfamily K, member 16|potassium channel, two pore domain subfamily K, member 16" Potassium two pore domain channel subfamily K 277 2001-06-29 2016-02-04 2023-01-20 83795 ENSG00000095981 OTTHUMG00000014645 uc011dtz.2 AF358909 NM_032115 "CCDS47421|CCDS87391|CCDS47422|CCDS47420|CCDS4843" Q96T55 "11263999|16382106" MGI:1921821 RGD:1582911 607369 objectId:525 HGNC:14464 "ENST00000437525.3|NM_001135106.2" -HGNC:14465 KCNK17 potassium two pore domain channel subfamily K member 17 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "K2p17.1|TALK-2|TALK2|TASK4|TASK-4" TWIK-related acid-sensitive K+ 4 "potassium channel, subfamily K, member 17|potassium channel, two pore domain subfamily K, member 17" Potassium two pore domain channel subfamily K 277 2001-06-29 2016-02-04 2023-01-20 89822 ENSG00000124780 OTTHUMG00000014646 uc003ooo.4 AF358910 NM_031460 "CCDS47419|CCDS4842" Q96T54 16382106 607370 objectId:526 HGNC:14465 "ENST00000373231.9|NM_031460.4" HGNC:14465 +HGNC:14464 KCNK16 potassium two pore domain channel subfamily K member 16 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "K2p16.1|TALK-1|TALK1" "potassium channel, subfamily K, member 16|potassium channel, two pore domain subfamily K, member 16" Potassium two pore domain channel subfamily K 277 2001-06-29 2016-02-04 2023-01-20 83795 ENSG00000095981 OTTHUMG00000014645 uc011dtz.2 AF358909 NM_032115 "CCDS47420|CCDS4843|CCDS87391|CCDS47422|CCDS47421" Q96T55 "11263999|16382106" MGI:1921821 RGD:1582911 607369 objectId:525 HGNC:14464 "ENST00000437525.3|NM_001135106.2" +HGNC:14465 KCNK17 potassium two pore domain channel subfamily K member 17 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "K2p17.1|TALK-2|TALK2|TASK4|TASK-4" TWIK-related acid-sensitive K+ 4 "potassium channel, subfamily K, member 17|potassium channel, two pore domain subfamily K, member 17" Potassium two pore domain channel subfamily K 277 2001-06-29 2016-02-04 2023-01-20 89822 ENSG00000124780 OTTHUMG00000014646 uc003ooo.4 AF358910 NM_031460 "CCDS4842|CCDS47419" Q96T54 16382106 607370 objectId:526 HGNC:14465 "ENST00000373231.9|NM_031460.4" HGNC:14465 HGNC:19439 KCNK18 potassium two pore domain channel subfamily K member 18 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "K2p18.1|TRESK-2|TRESK2|TRESK|TRIK" TWIK related spinal cord K+ channel "potassium channel, subfamily K, member 18|potassium channel, two pore domain subfamily K, member 18" Potassium two pore domain channel subfamily K 277 2005-01-07 2016-02-04 2023-01-20 338567 ENSG00000186795 OTTHUMG00000019120 uc010qsr.2 AB087138 NM_181840 CCDS7598 Q7Z418 16382106 MGI:2685627 RGD:1303091 613655 objectId:527 HGNC:19439 "ENST00000334549.1|NM_181840.1" HGNC:19439 -HGNC:6284 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "KCa1.1|mSLO1" "BK channel alpha subunit|maxiK channel|big potassium channel alpha subunit" SLO "potassium large conductance calcium-activated channel, subfamily M, alpha member 1|potassium channel, calcium activated large conductance subfamily M alpha, member 1" Potassium calcium-activated channels 255 1994-12-15 2016-02-04 2023-01-20 3778 ENSG00000156113 OTTHUMG00000018543 uc001jxm.4 U11717 NM_002247 "CCDS60572|CCDS86115|CCDS86116|CCDS86121|CCDS7352|CCDS86106|CCDS53545|CCDS73156|CCDS60571|CCDS91276|CCDS81481|CCDS60569" Q12791 "7987297|16382103" MGI:99923 RGD:620715 600150 122795 objectId:380 HGNC:6284 "ENST00000286628.14|NM_001161352.2" HGNC:6284 +HGNC:6284 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "KCa1.1|mSLO1" "BK channel alpha subunit|maxiK channel|big potassium channel alpha subunit" SLO "potassium large conductance calcium-activated channel, subfamily M, alpha member 1|potassium channel, calcium activated large conductance subfamily M alpha, member 1" Potassium calcium-activated channels 255 1994-12-15 2016-02-04 2023-01-20 3778 ENSG00000156113 OTTHUMG00000018543 uc001jxm.4 U11717 NM_002247 "CCDS81481|CCDS86106|CCDS86121|CCDS86116|CCDS86115|CCDS53545|CCDS73156|CCDS91276|CCDS60569|CCDS60571|CCDS7352|CCDS60572" Q12791 "7987297|16382103" MGI:99923 RGD:620715 600150 122795 objectId:380 HGNC:6284 "ENST00000286628.14|NM_001161352.2" HGNC:6284 HGNC:51213 KCNMA1-AS1 KCNMA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2014-08-07 2014-08-07 101929328 ENSG00000236467 OTTHUMG00000018534 BX092192 NR_120655 KCNMA1-AS1 HGNC:51213 HGNC:51214 KCNMA1-AS2 KCNMA1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2014-08-07 2014-08-07 101929310 ENSG00000225497 OTTHUMG00000018537 NR_120654 KCNMA1-AS2 HGNC:51214 HGNC:51215 KCNMA1-AS3 KCNMA1 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2014-08-07 2014-08-07 101929286 ENSG00000225652 OTTHUMG00000018539 "AA453582|AW510993" NR_126365 KCNMA1-AS3 HGNC:51215 HGNC:6285 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 hslo-beta "BK channel beta subunit 1|MaxiK channel beta-subunit 1|big potassium channel beta subunit 1" "potassium large conductance calcium-activated channel, subfamily M, beta member 1|potassium channel subfamily M regulatory beta subunit 1" Potassium calcium-activated channel subfamily M regulatory beta subunits 857 1997-12-05 2016-02-04 2023-01-20 3779 ENSG00000145936 OTTHUMG00000130439 uc003maq.3 AF035046 NM_004137 CCDS4373 Q16558 "8799178|9888999" MGI:1334203 RGD:2961 603951 HGNC:6285 "ENST00000274629.9|NM_004137.4" HGNC:6286 KCNMB2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "BK channel beta subunit 2|MaxiK channel beta-subunit 2|big potassium channel beta subunit 2" "potassium large conductance calcium-activated channel, subfamily M, beta member 2|potassium channel subfamily M regulatory beta subunit 2" Potassium calcium-activated channel subfamily M regulatory beta subunits 857 1999-06-04 2016-02-04 2023-01-20 10242 ENSG00000197584 OTTHUMG00000157264 uc062qdk.1 AF099137 NM_181361 CCDS3223 Q9Y691 10097176 MGI:1919663 RGD:631398 605214 HGNC:6286 "ENST00000452583.6|NM_181361.3" HGNC:51409 KCNMB2-AS1 KCNMB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 RP11-385J1.2 Antisense RNAs 1987 2014-11-20 2015-02-09 104797538 ENSG00000237978 OTTHUMG00000157289 "BG977814|BG206373|DA735220" NR_126560 25394782 KCNMB2-AS1 HGNC:51409 -HGNC:6287 KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "BK channel beta subunit 3|MaxiK channel beta-subunit 3|big potassium channel beta subunit 3" "KCNMB2|KCNMBL" "potassium large conductance calcium-activated channel, subfamily M beta member 3|potassium channel subfamily M regulatory beta subunit 3" Potassium calcium-activated channel subfamily M regulatory beta subunits 857 2000-01-07 2016-02-04 2023-01-20 27094 ENSG00000171121 OTTHUMG00000157337 uc003fjn.4 AF139471 NM_001163677 "CCDS3226|CCDS54683|CCDS3225|CCDS43173|CCDS43172" Q9NPA1 10585773 MGI:3612244 RGD:1311852 605222 HGNC:6287 "ENST00000392685.7|NM_171830.2" +HGNC:6287 KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "BK channel beta subunit 3|MaxiK channel beta-subunit 3|big potassium channel beta subunit 3" "KCNMB2|KCNMBL" "potassium large conductance calcium-activated channel, subfamily M beta member 3|potassium channel subfamily M regulatory beta subunit 3" Potassium calcium-activated channel subfamily M regulatory beta subunits 857 2000-01-07 2016-02-04 2023-01-20 27094 ENSG00000171121 OTTHUMG00000157337 uc003fjn.4 AF139471 NM_001163677 "CCDS43172|CCDS43173|CCDS3225|CCDS54683|CCDS3226" Q9NPA1 10585773 MGI:3612244 RGD:1311852 605222 HGNC:6287 "ENST00000392685.7|NM_171830.2" HGNC:6288 KCNMB3P1 KCNMB3 pseudogene 1 pseudogene pseudogene Approved 22q11.1 22q11.1 KCNMB3L1 "KCNMB2L|KCNMBLP|KCNMB3L" "potassium large conductance calcium-activated channel, subfamily M, beta member 3-like|potassium large conductance calcium-activated channel, subfamily M, beta member 3 pseudogene 1|potassium channel subfamily M regulatory beta subunit 3 pseudogene 1|potassium calcium-activated channel subfamily M regulatory beta subunit 3 pseudogene 1" 2000-01-07 2010-10-21 2019-11-26 2019-11-26 27093 ENSG00000239435 OTTHUMG00000141303 AP000365 NG_002679 10585773 HGNC:6288 HGNC:6289 KCNMB4 potassium calcium-activated channel subfamily M regulatory beta subunit 4 protein-coding gene gene with protein product Approved 12q15 12q15 "BK channel beta subunit 4|MaxiK channel beta-subunit 4|big potassium channel beta subunit 4" "potassium large conductance calcium-activated channel, subfamily M, beta member 4|potassium channel subfamily M regulatory beta subunit 4" Potassium calcium-activated channel subfamily M regulatory beta subunits 857 2000-02-02 2016-02-04 2023-01-20 27345 ENSG00000135643 OTTHUMG00000167586 uc001svx.4 AF207992 NM_014505 CCDS8997 Q86W47 "10692449|10828459" MGI:1913272 RGD:620728 605223 HGNC:6289 "ENST00000258111.5|NM_014505.6" HGNC:6290 KCNN1 potassium calcium-activated channel subfamily N member 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KCa2.1|hSK1" small conductance calcium-activated potassium channel 1 "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1" Potassium calcium-activated channels 255 1998-04-07 2016-02-04 2023-01-20 3780 ENSG00000105642 OTTHUMG00000183482 uc002nht.4 U69883 NM_002248 "CCDS67611|CCDS92563|CCDS92562" Q92952 "8781233|10516439|16382103" MGI:1933993 RGD:2962 602982 objectId:381 HGNC:6290 "ENST00000684775.1|NM_001386974.1" -HGNC:6291 KCNN2 potassium calcium-activated channel subfamily N member 2 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "KCa2.2|hSK2" small conductance calcium-activated potassium channel 2 "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2" Potassium calcium-activated channels 255 1998-04-07 2016-02-04 2023-01-20 3781 ENSG00000080709 OTTHUMG00000128836 uc003kqo.5 AF239613 NM_021614 "CCDS4114|CCDS43352|CCDS93760" Q9H2S1 16382103 MGI:2153182 RGD:2963 605879 objectId:382 HGNC:6291 "ENST00000673685.1|NM_021614.4" -HGNC:6292 KCNN3 potassium calcium-activated channel subfamily N member 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KCa2.3|hSK3|SKCA3" small conductance calcium-activated potassium channel 3 "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3" Potassium calcium-activated channels 255 1998-04-07 2016-02-04 2023-01-20 3782 ENSG00000143603 OTTHUMG00000037260 uc001ffp.4 AF031815 NM_002249 "CCDS30880|CCDS91063|CCDS72928|CCDS1072" Q9UGI6 "9491810|16382103" MGI:2153183 RGD:2964 602983 objectId:383 HGNC:6292 "ENST00000271915.9|NM_002249.6" HGNC:6292 +HGNC:6291 KCNN2 potassium calcium-activated channel subfamily N member 2 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "KCa2.2|hSK2" small conductance calcium-activated potassium channel 2 "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2" Potassium calcium-activated channels 255 1998-04-07 2016-02-04 2023-01-20 3781 ENSG00000080709 OTTHUMG00000128836 uc003kqo.5 AF239613 NM_021614 "CCDS93760|CCDS43352|CCDS4114" Q9H2S1 16382103 MGI:2153182 RGD:2963 605879 objectId:382 HGNC:6291 "ENST00000673685.1|NM_021614.4" +HGNC:6292 KCNN3 potassium calcium-activated channel subfamily N member 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KCa2.3|hSK3|SKCA3" small conductance calcium-activated potassium channel 3 "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3" Potassium calcium-activated channels 255 1998-04-07 2016-02-04 2023-01-20 3782 ENSG00000143603 OTTHUMG00000037260 uc001ffp.4 AF031815 NM_002249 "CCDS72928|CCDS91063|CCDS30880|CCDS1072" Q9UGI6 "9491810|16382103" MGI:2153183 RGD:2964 602983 objectId:383 HGNC:6292 "ENST00000271915.9|NM_002249.6" HGNC:6292 HGNC:6293 KCNN4 potassium calcium-activated channel subfamily N member 4 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "KCa3.1|hSK4|hKCa4|hIKCa1|IK" "small conductance calcium-activated potassium channel 4|intermediate conductance calcium-activated potassium channel" "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4" Potassium calcium-activated channels 255 1998-04-07 2016-02-04 2023-01-20 3783 ENSG00000104783 OTTHUMG00000182779 uc002oxl.3 AF022797 NM_002250 CCDS12630 O15554 "9380751|9407042|16382103" MGI:1277957 RGD:621476 LRG_1305|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1305.xml 602754 442943 objectId:384 HGNC:6293 "ENST00000648319.1|NM_002250.3" HGNC:6293 HGNC:6294 KCNQ1 potassium voltage-gated channel subfamily Q member 1 protein-coding gene gene with protein product Approved 11p15.5-p15.4 11p15.5-p15.4 "Kv7.1|KCNA8|KVLQT1|JLNS1|LQT1" Jervell and Lange-Nielsen syndrome 1 "LQT|KCNA9" "potassium voltage-gated channel, KQT-like subfamily, member 1|potassium channel, voltage gated KQT-like subfamily Q, member 1" Potassium voltage-gated channels 274 1997-02-05 2016-02-04 2023-03-15 3784 ENSG00000053918 OTTHUMG00000009900 uc001lwn.4 AF000571 NM_000218 CCDS7736 P51787 "8528244|16382104" MGI:108083 RGD:621503 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|KCNQ1 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=KCNQ1|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=KCNQ1|LRG_287|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_287.xml" 607542 122800 objectId:560 HGNC:6294 "ENST00000155840.12|NM_000218.3" HGNC:6294 HGNC:42790 KCNQ1-AS1 KCNQ1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 KCNQ1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-19 2012-08-15 2014-11-19 338653 ENSG00000229414 OTTHUMG00000011704 uc057xys.1 AJ251642 NR_130721 KCNQ1-AS1 HGNC:42790 HGNC:13335 KCNQ1DN KCNQ1 downstream neighbor non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 "BWRT|HSA404617" "KCNQ1 downstream neighbor|KCNQ1 downstream neighbor (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-06-07 2018-05-16 2023-03-15 55539 ENSG00000237941 OTTHUMG00000009942 uc009ydq.4 AB039920 NR_024627 Q9H478 "11056398|11063728|22067257" 610980 KCNQ1DN HGNC:13335 HGNC:6295 KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 "KvDMR1|KCNQ1-AS2|KvLQT1-AS|LIT1|NCRNA00012" "non-protein coding RNA 12|KCNQ1 antisense RNA 2 (non-protein coding)|KCNQ1 overlapping transcript 1 (non-protein coding)" KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 1999-08-05 2018-05-16 2021-04-13 10984 ENSG00000269821 OTTHUMG00000171022 uc001lwp.4 NR_002728 "10220444|12772698" MGI:1926855 LRG_1052|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1052.xml 604115 138711 Kcnq1ot1 KCNQ1OT1 HGNC:6295 HGNC:6295 -HGNC:6296 KCNQ2 potassium voltage-gated channel subfamily Q member 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "Kv7.2|ENB1|BFNC|KCNA11|HNSPC" "EBN|EBN1" "potassium voltage-gated channel, KQT-like subfamily, member 2|potassium channel, voltage gated KQT-like subfamily Q, member 2" Potassium voltage-gated channels 274 1998-01-12 2016-02-04 2023-01-20 3785 ENSG00000075043 OTTHUMG00000033049 uc002yey.2 AF033348 NM_172109 "CCDS46629|CCDS13520|CCDS13521|CCDS13519|CCDS13518" O43526 "9425895|16382104" MGI:1309503 RGD:621504 602235 122808 objectId:561 HGNC:6296 "ENST00000359125.7|NM_172107.4" HGNC:6296 +HGNC:6296 KCNQ2 potassium voltage-gated channel subfamily Q member 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "Kv7.2|ENB1|BFNC|KCNA11|HNSPC" "EBN|EBN1" "potassium voltage-gated channel, KQT-like subfamily, member 2|potassium channel, voltage gated KQT-like subfamily Q, member 2" Potassium voltage-gated channels 274 1998-01-12 2016-02-04 2023-01-20 3785 ENSG00000075043 OTTHUMG00000033049 uc002yey.2 AF033348 NM_172109 "CCDS13518|CCDS13520|CCDS46629|CCDS13519|CCDS13521" O43526 "9425895|16382104" MGI:1309503 RGD:621504 602235 122808 objectId:561 HGNC:6296 "ENST00000359125.7|NM_172107.4" HGNC:6296 HGNC:40321 KCNQ2-AS1 KCNQ2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2019-08-15 2019-08-15 105372720 ENSG00000226390 OTTHUMG00000032967 XR_001754758 HGNC:40321 HGNC:6297 KCNQ3 potassium voltage-gated channel subfamily Q member 3 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 Kv7.3 EBN2 "potassium voltage-gated channel, KQT-like subfamily, member 3|potassium channel, voltage gated KQT-like subfamily Q, member 3" Potassium voltage-gated channels 274 1998-01-12 2016-02-04 2023-01-20 3786 ENSG00000184156 OTTHUMG00000137472 uc003ytj.4 AB208890 NM_004519 "CCDS34943|CCDS56554" O43525 "9425900|16382104" MGI:1336181 RGD:69222 602232 122817 objectId:562 HGNC:6297 "ENST00000388996.10|NM_004519.4" HGNC:6297 HGNC:6298 KCNQ4 potassium voltage-gated channel subfamily Q member 4 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Kv7.4 DFNA2 "potassium voltage-gated channel, KQT-like subfamily, member 4|potassium channel, voltage gated KQT-like subfamily Q, member 4" Potassium voltage-gated channels 274 1999-02-05 2016-02-04 2023-03-15 9132 ENSG00000117013 OTTHUMG00000007730 uc001cgh.2 AF105202 NM_004700 CCDS456 P56696 "10025409|16382104" MGI:1926803 RGD:61799 LRG_1378|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1378.xml 603537 122821 objectId:563 HGNC:6298 "ENST00000347132.10|NM_004700.4" HGNC:6298 -HGNC:6299 KCNQ5 potassium voltage-gated channel subfamily Q member 5 protein-coding gene gene with protein product Approved 6q13 06q13 Kv7.5 "potassium voltage-gated channel, KQT-like subfamily, member 5|potassium channel, voltage gated KQT-like subfamily Q, member 5" Potassium voltage-gated channels 274 2000-08-11 2016-02-04 2023-01-20 56479 ENSG00000185760 OTTHUMG00000015020 uc003pgk.4 AF202977 NM_019842 "CCDS55037|CCDS55034|CCDS4976|CCDS55035" Q9NR82 "10787416|10816588|16382104" MGI:1924937 RGD:628848 607357 470538 objectId:564 HGNC:6299 "ENST00000370398.6|NM_019842.4" HGNC:6299 +HGNC:6299 KCNQ5 potassium voltage-gated channel subfamily Q member 5 protein-coding gene gene with protein product Approved 6q13 06q13 Kv7.5 "potassium voltage-gated channel, KQT-like subfamily, member 5|potassium channel, voltage gated KQT-like subfamily Q, member 5" Potassium voltage-gated channels 274 2000-08-11 2016-02-04 2023-01-20 56479 ENSG00000185760 OTTHUMG00000015020 uc003pgk.4 AF202977 NM_019842 "CCDS4976|CCDS55037|CCDS55035|CCDS55034" Q9NR82 "10787416|10816588|16382104" MGI:1924937 RGD:628848 607357 470538 objectId:564 HGNC:6299 "ENST00000370398.6|NM_019842.4" HGNC:6299 HGNC:40323 KCNQ5-AS1 KCNQ5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 KCNQ5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-23 2012-08-15 2014-11-19 100873997 ENSG00000229154 OTTHUMG00000015018 uc031spb.1 NR_046621 KCNQ5-AS1 HGNC:40323 HGNC:55469 KCNQ5-DT KCNQ5 divergent transcript non-coding RNA RNA, long non-coding Approved 6q13 06q13 CATG00000088862.1 Divergent transcripts 1990 2021-03-11 2021-03-11 112267960 ENSG00000285844 32718982 HGNC:41354 KCNQ5-IT1 KCNQ5 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 KCNQ5 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-23 2015-02-25 2015-02-25 100507381 ENSG00000233844 OTTHUMG00000015014 uc063pnj.1 NR_120503 KCNQ5-IT1 HGNC:41354 @@ -13831,8 +13832,8 @@ HGNC:18893 KCNRG potassium channel regulator protein-coding gene gene with prote HGNC:6300 KCNS1 potassium voltage-gated channel modifier subfamily S member 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 Kv9.1 "potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1|potassium voltage-gated channel, modifier subfamily S, member 1" Potassium voltage-gated channels 274 1998-04-06 2016-02-04 2023-01-20 3787 ENSG00000124134 OTTHUMG00000033079 uc002xnc.4 AF043473 NM_002251 CCDS13342 Q96KK3 "9305895|16382104" MGI:1197019 RGD:621524 602905 objectId:567 HGNC:6300 "ENST00000537075.3|NM_001322799.2" HGNC:6301 KCNS2 potassium voltage-gated channel modifier subfamily S member 2 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 Kv9.2 "potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2|potassium voltage-gated channel, modifier subfamily S, member 2" Potassium voltage-gated channels 274 1998-04-06 2016-02-04 2023-01-20 3788 ENSG00000156486 OTTHUMG00000044337 uc003yin.4 AB032970 NM_020697 CCDS6279 Q9ULS6 "9305895|16382104" MGI:1197011 RGD:621525 602906 objectId:568 HGNC:6301 "ENST00000287042.5|NM_020697.4" HGNC:6302 KCNS3 potassium voltage-gated channel modifier subfamily S member 3 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 Kv9.3 "potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3|potassium voltage-gated channel, modifier subfamily S, member 3" Potassium voltage-gated channels 274 1998-04-06 2016-02-04 2023-01-20 3790 ENSG00000170745 OTTHUMG00000044150 uc002rcv.4 AF043472 NM_002252 CCDS1692 Q9BQ31 "10484328|16382104" MGI:1098804 RGD:621527 603888 objectId:569 HGNC:6302 "ENST00000304101.9|NM_002252.5" -HGNC:18865 KCNT1 potassium sodium-activated channel subfamily T member 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "KCa4.1|KIAA1422|SLACK|Slo2.2" Sequence like a calcium-activated K+ channel "potassium channel, subfamily T, member 1|potassium channel, sodium activated subfamily T, member 1" Potassium sodium-activated channel subfamily T 856 2002-07-10 2016-02-04 2023-01-20 57582 ENSG00000107147 OTTHUMG00000020917 uc011mdq.3 AB037843 NM_020822 "CCDS35175|CCDS65188" Q5JUK3 "10718198|16382103" MGI:1924627 RGD:621106 608167 317382 objectId:385 HGNC:18865 "ENST00000371757.7|NM_020822.3" HGNC:18865 -HGNC:18866 KCNT2 potassium sodium-activated channel subfamily T member 2 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "KCa4.2|SLICK|SLO2.1" sodium and chloride activated ATP sensitive potassium channel "potassium channel, subfamily T, member 2|potassium channel, sodium activated subfamily T, member 2" "Potassium sodium-activated channel subfamily T |MicroRNA protein coding host genes" "856|1691" 2002-07-10 2016-02-04 2023-01-20 343450 ENSG00000162687 OTTHUMG00000035611 uc001gtd.3 "BX647852|AY359444|AK127807" NM_198503 "CCDS72994|CCDS72995|CCDS1384" Q6UVM3 16382103 MGI:3036273 RGD:735074 610044 objectId:386 HGNC:18866 "ENST00000294725.14|NM_198503.5" HGNC:18866 +HGNC:18865 KCNT1 potassium sodium-activated channel subfamily T member 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "KCa4.1|KIAA1422|SLACK|Slo2.2" Sequence like a calcium-activated K+ channel "potassium channel, subfamily T, member 1|potassium channel, sodium activated subfamily T, member 1" Potassium sodium-activated channel subfamily T 856 2002-07-10 2016-02-04 2023-01-20 57582 ENSG00000107147 OTTHUMG00000020917 uc011mdq.3 AB037843 NM_020822 "CCDS65188|CCDS35175" Q5JUK3 "10718198|16382103" MGI:1924627 RGD:621106 608167 317382 objectId:385 HGNC:18865 "ENST00000371757.7|NM_020822.3" HGNC:18865 +HGNC:18866 KCNT2 potassium sodium-activated channel subfamily T member 2 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "KCa4.2|SLICK|SLO2.1" sodium and chloride activated ATP sensitive potassium channel "potassium channel, subfamily T, member 2|potassium channel, sodium activated subfamily T, member 2" "Potassium sodium-activated channel subfamily T |MicroRNA protein coding host genes" "856|1691" 2002-07-10 2016-02-04 2023-01-20 343450 ENSG00000162687 OTTHUMG00000035611 uc001gtd.3 "BX647852|AY359444|AK127807" NM_198503 "CCDS1384|CCDS72994|CCDS72995" Q6UVM3 16382103 MGI:3036273 RGD:735074 610044 objectId:386 HGNC:18866 "ENST00000294725.14|NM_198503.5" HGNC:18866 HGNC:18867 KCNU1 potassium calcium-activated channel subfamily U member 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "KCa5.1|Slo3|KCNMC1|Kcnma3" potassium channel, subfamily U, member 1 Potassium calcium-activated channels 255 2002-07-10 2016-02-04 2023-01-20 157855 ENSG00000215262 OTTHUMG00000163981 uc010lvw.5 BC028701 NM_001031836 CCDS55220 A8MYU2 16382103 MGI:1202300 RGD:1585877 615215 objectId:387 HGNC:18867 "ENST00000399881.8|NM_001031836.3" HGNC:18861 KCNV1 potassium voltage-gated channel modifier subfamily V member 1 protein-coding gene gene with protein product Approved 8q23.2 08q23.2 Kv8.1 "potassium channel, subfamily V, member 1|potassium channel, voltage gated modifier subfamily V, member 1" Potassium voltage-gated channels 274 2002-07-10 2016-02-04 2023-01-20 27012 ENSG00000164794 OTTHUMG00000165637 uc010mcw.4 AF167082 NM_014379 CCDS6314 Q6PIU1 "8670833|16382104" MGI:1914748 RGD:621264 608164 objectId:565 HGNC:18861 "ENST00000524391.6|NM_014379.4" HGNC:19698 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 Kv8.2 "potassium channel, subfamily V, member 2|potassium channel, voltage gated modifier subfamily V, member 2" Potassium voltage-gated channels 274 2002-11-20 2016-02-04 2023-01-20 169522 ENSG00000168263 OTTHUMG00000019449 uc003zho.3 AF348983 NM_133497 CCDS6447 Q8TDN2 "12060745|16382104" MGI:2670981 RGD:1309271 607604 159360 objectId:566 HGNC:19698 "ENST00000382082.4|NM_133497.4" HGNC:19698 @@ -13857,44 +13858,44 @@ HGNC:23236 KCTD10 potassium channel tetramerization domain containing 10 protein HGNC:49807 KCTD10P1 potassium channel tetramerization domain containing 10 pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 2014-03-06 2014-03-06 100422230 ENSG00000224955 OTTHUMG00000019720 NG_023794 PGOHUM00000235998 HGNC:49807 HGNC:21302 KCTD11 potassium channel tetramerization domain containing 11 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "REN|KCASH1" C17orf36 "chromosome 17 open reading frame 36|potassium channel tetramerisation domain containing 11" KCTD family 1815 2003-06-10 2003-11-26 2013-06-20 2023-01-20 147040 ENSG00000213859 OTTHUMG00000132061 uc002gge.5 AK056227 NM_001002914 "CCDS32545|CCDS92247" Q693B1 "12186855|21472142" MGI:2448712 RGD:1307125 609848 HGNC:21302 "ENST00000333751.8|NM_001363642.1" HGNC:14678 KCTD12 potassium channel tetramerization domain containing 12 protein-coding gene gene with protein product Approved 13q22.3 13q22.3 "KIAA1778|PFET1" predominantly fetal expressed T1 domain C13orf2 "chromosome 13 open reading frame 2|potassium channel tetramerisation domain containing 12" KCTD family 1815 2001-03-14 2003-11-26 2013-06-20 2023-01-20 115207 ENSG00000178695 OTTHUMG00000017096 uc010aeu.2 AF359381 NM_138444 CCDS9455 Q96CX2 15357420 MGI:2145823 RGD:1309421 610521 objectId:1918 HGNC:14678 "ENST00000377474.4|NM_138444.4" -HGNC:22234 KCTD13 potassium channel tetramerization domain containing 13 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "PDIP1|FKSG86|POLDIP1" "polymerase delta-interacting protein 1|TNFAIP1-like" potassium channel tetramerisation domain containing 13 KCTD family 1815 2003-11-24 2013-06-20 2023-01-20 253980 ENSG00000174943 OTTHUMG00000132120 uc002duv.5 AF289573 NM_178863 "CCDS92133|CCDS10661" Q8WZ19 11593007 MGI:1923739 RGD:735189 608947 470540 HGNC:22234 "ENST00000568000.6|NM_178863.5" +HGNC:22234 KCTD13 potassium channel tetramerization domain containing 13 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "PDIP1|FKSG86|POLDIP1" "polymerase delta-interacting protein 1|TNFAIP1-like" potassium channel tetramerisation domain containing 13 KCTD family 1815 2003-11-24 2013-06-20 2023-01-20 253980 ENSG00000174943 OTTHUMG00000132120 uc002duv.5 AF289573 NM_178863 "CCDS10661|CCDS92133" Q8WZ19 11593007 MGI:1923739 RGD:735189 608947 470540 HGNC:22234 "ENST00000568000.6|NM_178863.5" HGNC:55585 KCTD13-DT KCTD13 divergent transcript non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Divergent transcripts 1990 2021-04-26 2021-04-26 107984836 ENSG00000247735 XR_001752362 -HGNC:23295 KCTD14 potassium channel tetramerization domain containing 14 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 MGC2376 potassium channel tetramerisation domain containing 14 KCTD family 1815 2003-11-05 2013-06-20 2023-01-20 65987 ENSG00000151364 OTTHUMG00000150224 uc001oyw.5 BC001062 NM_023930 "CCDS8255|CCDS60908" Q9BQ13 12477932 MGI:1289222 RGD:1306430 HGNC:23295 "ENST00000353172.6|NM_023930.4" +HGNC:23295 KCTD14 potassium channel tetramerization domain containing 14 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 MGC2376 potassium channel tetramerisation domain containing 14 KCTD family 1815 2003-11-05 2013-06-20 2023-01-20 65987 ENSG00000151364 OTTHUMG00000150224 uc001oyw.5 BC001062 NM_023930 "CCDS60908|CCDS8255" Q9BQ13 12477932 MGI:1289222 RGD:1306430 HGNC:23295 "ENST00000353172.6|NM_023930.4" HGNC:23297 KCTD15 potassium channel tetramerization domain containing 15 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 MGC25497 potassium channel tetramerisation domain containing 15 KCTD family 1815 2003-11-05 2013-06-20 2023-01-20 79047 ENSG00000153885 OTTHUMG00000180475 uc002nuw.5 AK025590 NM_024076 "CCDS46039|CCDS12434" Q96SI1 29665387 MGI:2385276 RGD:1583737 615240 HGNC:23297 "ENST00000683859.1|NM_001129994.2" HGNC:29244 KCTD16 potassium channel tetramerization domain containing 16 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 KIAA1317 potassium channel tetramerisation domain containing 16 KCTD family 1815 2004-03-19 2013-06-20 2023-01-20 57528 ENSG00000183775 OTTHUMG00000163172 uc003lnm.2 AB037738 NM_020768 CCDS34260 Q68DU8 10718198 MGI:1914659 RGD:1559856 613423 objectId:1920 HGNC:29244 "ENST00000512467.6|NM_020768.4" -HGNC:25705 KCTD17 potassium channel tetramerization domain containing 17 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 FLJ12242 potassium channel tetramerisation domain containing 17 KCTD family 1815 2005-02-08 2013-06-20 2023-01-20 79734 ENSG00000100379 OTTHUMG00000150532 uc011amv.4 BC025403 NM_024681 "CCDS13940|CCDS74855|CCDS74854" Q8N5Z5 "25270598|25983243" MGI:1920094 RGD:1311154 616386 477195 HGNC:25705 "ENST00000403888.8|NM_001282684.2" HGNC:25705 +HGNC:25705 KCTD17 potassium channel tetramerization domain containing 17 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 FLJ12242 potassium channel tetramerisation domain containing 17 KCTD family 1815 2005-02-08 2013-06-20 2023-01-20 79734 ENSG00000100379 OTTHUMG00000150532 uc011amv.4 BC025403 NM_024681 "CCDS74854|CCDS13940|CCDS74855" Q8N5Z5 "25270598|25983243" MGI:1920094 RGD:1311154 616386 477195 HGNC:25705 "ENST00000403888.8|NM_001282684.2" HGNC:25705 HGNC:26446 KCTD18 potassium channel tetramerization domain containing 18 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "FLJ31322|6530404F10Rik|FLJ37818" potassium channel tetramerisation domain containing 18 KCTD family 1815 2005-02-08 2013-06-20 2023-01-20 130535 ENSG00000155729 OTTHUMG00000132781 uc002uvs.4 AK055884 NM_152387 CCDS2330 Q6PI47 MGI:3603813 RGD:1564820 HGNC:26446 "ENST00000359878.8|NM_152387.4" HGNC:24753 KCTD19 potassium channel tetramerization domain containing 19 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ40162 potassium channel tetramerisation domain containing 19 KCTD family 1815 2005-02-08 2013-06-20 2023-01-20 146212 ENSG00000168676 OTTHUMG00000173075 uc002esu.3 AK097481 NM_001100915 CCDS42179 Q17RG1 MGI:3045294 RGD:1561326 619943 HGNC:24753 "ENST00000304372.6|NM_001100915.3" -HGNC:21052 KCTD20 potassium channel tetramerization domain containing 20 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "dJ108K11.3|MGC14254" C6orf69 "chromosome 6 open reading frame 69|potassium channel tetramerisation domain containing 20" KCTD family 1815 2003-05-12 2006-06-26 2013-06-20 2023-01-20 222658 ENSG00000112078 OTTHUMG00000014597 uc003ome.4 BC023525 NM_173562 "CCDS69097|CCDS69096|CCDS4821" Q7Z5Y7 MGI:1914239 RGD:1309887 615932 HGNC:21052 "ENST00000373731.7|NM_173562.5" +HGNC:21052 KCTD20 potassium channel tetramerization domain containing 20 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "dJ108K11.3|MGC14254" C6orf69 "chromosome 6 open reading frame 69|potassium channel tetramerisation domain containing 20" KCTD family 1815 2003-05-12 2006-06-26 2013-06-20 2023-01-20 222658 ENSG00000112078 OTTHUMG00000014597 uc003ome.4 BC023525 NM_173562 "CCDS4821|CCDS69096|CCDS69097" Q7Z5Y7 MGI:1914239 RGD:1309887 615932 HGNC:21052 "ENST00000373731.7|NM_173562.5" HGNC:27452 KCTD21 potassium channel tetramerization domain containing 21 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 KCASH2 potassium channel tetramerisation domain containing 21 KCTD family 1815 2006-07-03 2013-06-20 2023-01-20 283219 ENSG00000188997 OTTHUMG00000166497 uc001ozb.4 AK095233 NM_001029859 CCDS31645 Q4G0X4 21472142 MGI:3643121 RGD:1559529 618790 HGNC:27452 "ENST00000340067.4|NM_001029859.3" HGNC:48674 KCTD21-AS1 KCTD21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Antisense RNAs 1987 2013-06-06 2013-06-06 100289388 ENSG00000246174 OTTHUMG00000166595 NR_102280 KCTD21-AS1 HGNC:48674 HGNC:6304 KDELR1 KDEL endoplasmic reticulum protein retention receptor 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "ERD2.1|ERD2|HDEL" KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 KDEL endoplasmic reticulum protein retention receptors 1894 1999-08-20 2015-12-11 2023-01-20 10945 ENSG00000105438 OTTHUMG00000183215 uc002pjb.1 X55885 NM_006801 CCDS12718 P24390 2172835 MGI:1915387 RGD:1306764 131235 HGNC:6304 "ENST00000330720.7|NM_006801.3" -HGNC:6305 KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "ELP-1|ERD2.2" KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 KDEL endoplasmic reticulum protein retention receptors 1894 1999-08-20 2015-12-11 2023-01-20 11014 ENSG00000136240 OTTHUMG00000023103 uc003sqe.5 X63745 NM_001100603 "CCDS43550|CCDS5351" P33947 "1316805|1325562" MGI:1914163 RGD:1304618 609024 HGNC:6305 "ENST00000258739.9|NM_006854.4" HGNC:6305 +HGNC:6305 KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "ELP-1|ERD2.2" KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 KDEL endoplasmic reticulum protein retention receptors 1894 1999-08-20 2015-12-11 2023-01-20 11014 ENSG00000136240 OTTHUMG00000023103 uc003sqe.5 X63745 NM_001100603 "CCDS5351|CCDS43550" P33947 "1316805|1325562" MGI:1914163 RGD:1304618 609024 HGNC:6305 "ENST00000258739.9|NM_006854.4" HGNC:6305 HGNC:6306 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 KDEL endoplasmic reticulum protein retention receptors 1894 1999-08-19 2015-12-11 2023-01-20 11015 ENSG00000100196 OTTHUMG00000153520 uc003avv.4 AL035081 NM_006855 "CCDS13972|CCDS46705" O43731 MGI:2145953 RGD:1311536 619900 HGNC:6306 "ENST00000216014.9|NM_006855.4" HGNC:26624 KDF1 keratinocyte differentiation factor 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FLJ34633|RP11-344H11.3" C1orf172 chromosome 1 open reading frame 172 2005-07-21 2014-04-29 2014-04-29 2023-01-20 126695 ENSG00000175707 OTTHUMG00000004272 AK091952 NM_152365 CCDS293 Q8NAX2 24075906 MGI:1916323 RGD:1303271 616758 HGNC:26624 "ENST00000320567.6|NM_152365.3" HGNC:26624 -HGNC:29079 KDM1A lysine demethylase 1A protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA0601|BHC110|LSD1" Lysine-specific histone demethylase 1A "AOF2|KDM1" "amine oxidase (flavin containing) domain 2|lysine (K)-specific demethylase 1" "Lysine demethylases|MicroRNA protein coding host genes" "485|1691" 2004-02-26 2009-09-29 2016-02-12 2023-01-20 23028 ENSG00000004487 OTTHUMG00000003220 uc001bgi.3 AL031428 NM_015013 "CCDS53278|CCDS85939|CCDS90881|CCDS90880|CCDS30627" O60341 "9628581|12493763" MGI:1196256 RGD:1562975 609132 478263 objectId:2669 HGNC:29079 "ENST00000400181.9|NM_001009999.3" HGNC:29079 +HGNC:29079 KDM1A lysine demethylase 1A protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA0601|BHC110|LSD1" Lysine-specific histone demethylase 1A "AOF2|KDM1" "amine oxidase (flavin containing) domain 2|lysine (K)-specific demethylase 1" "Lysine demethylases|MicroRNA protein coding host genes" "485|1691" 2004-02-26 2009-09-29 2016-02-12 2023-01-20 23028 ENSG00000004487 OTTHUMG00000003220 uc001bgi.3 AL031428 NM_015013 "CCDS53278|CCDS30627|CCDS85939|CCDS90881|CCDS90880" O60341 "9628581|12493763" MGI:1196256 RGD:1562975 609132 478263 objectId:2669 HGNC:29079 "ENST00000400181.9|NM_001009999.3" HGNC:29079 HGNC:21577 KDM1B lysine demethylase 1B protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "FLJ34109|FLJ33898|dJ298J15.2|bA204B7.3|FLJ43328|LSD2" "C6orf193|AOF1" "amine oxidase, flavin containing 1|chromosome 6 open reading frame 193|amine oxidase (flavin containing) domain 1|lysine (K)-specific demethylase 1B" "Zinc fingers CW-type|Lysine demethylases" "96|485" 2003-06-25 2009-09-29 2016-02-12 2023-01-20 221656 ENSG00000165097 OTTHUMG00000014316 uc003ncn.2 AK125318 NM_153042 "CCDS34343|CCDS93866" Q8NB78 "19407342|19727073" MGI:2145261 RGD:1310701 613081 objectId:2670 HGNC:21577 "ENST00000650836.2|NM_001364614.2" -HGNC:13606 KDM2A lysine demethylase 2A protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "KIAA1004|FBL11|LILINA|DKFZP434M1735|FBL7|FLJ00115|CXXC8|JHDM1A" "F-box protein FBL11|jumonji C domain-containing histone demethylase 1A" FBXL11 "F-box and leucine-rich repeat protein 11|lysine (K)-specific demethylase 2A" "PHD finger proteins|Zinc fingers CXXC-type|Lysine demethylases|F-box and leucine rich repeat proteins" "88|136|485|558" 2000-09-27 2009-04-06 2016-02-12 2023-01-20 22992 ENSG00000173120 OTTHUMG00000167103 uc001ojw.4 BC047486 NM_012308 "CCDS58148|CCDS44657" Q9Y2K7 "10231032|10531037" MGI:1354736 RGD:1309419 605657 objectId:2671 HGNC:13606 "ENST00000529006.7|NM_012308.3" -HGNC:13610 KDM2B lysine demethylase 2B protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "PCCX2|CXXC2|Fbl10|JHDM1B" jumonji C domain-containing histone demethylase 1B FBXL10 "F-box and leucine-rich repeat protein 10|lysine (K)-specific demethylase 2B" "PHD finger proteins|Zinc fingers CXXC-type|Lysine demethylases|F-box and leucine rich repeat proteins|MicroRNA protein coding host genes" "88|136|485|558|1691" 2004-01-06 2009-04-06 2016-02-12 2023-01-20 84678 ENSG00000089094 OTTHUMG00000169071 uc058uhq.1 AJ459424 NM_032590 "CCDS41849|CCDS41850" Q8NHM5 10799292 MGI:1354737 RGD:1310217 609078 objectId:2672 HGNC:13610 "ENST00000377071.9|NM_032590.5" +HGNC:13606 KDM2A lysine demethylase 2A protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "KIAA1004|FBL11|LILINA|DKFZP434M1735|FBL7|FLJ00115|CXXC8|JHDM1A" "F-box protein FBL11|jumonji C domain-containing histone demethylase 1A" FBXL11 "F-box and leucine-rich repeat protein 11|lysine (K)-specific demethylase 2A" "PHD finger proteins|Zinc fingers CXXC-type|Lysine demethylases|F-box and leucine rich repeat proteins" "88|136|485|558" 2000-09-27 2009-04-06 2016-02-12 2023-01-20 22992 ENSG00000173120 OTTHUMG00000167103 uc001ojw.4 BC047486 NM_012308 "CCDS44657|CCDS58148" Q9Y2K7 "10231032|10531037" MGI:1354736 RGD:1309419 605657 objectId:2671 HGNC:13606 "ENST00000529006.7|NM_012308.3" +HGNC:13610 KDM2B lysine demethylase 2B protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "PCCX2|CXXC2|Fbl10|JHDM1B" jumonji C domain-containing histone demethylase 1B FBXL10 "F-box and leucine-rich repeat protein 10|lysine (K)-specific demethylase 2B" "PHD finger proteins|Zinc fingers CXXC-type|Lysine demethylases|F-box and leucine rich repeat proteins|MicroRNA protein coding host genes" "88|136|485|558|1691" 2004-01-06 2009-04-06 2016-02-12 2023-01-20 84678 ENSG00000089094 OTTHUMG00000169071 uc058uhq.1 AJ459424 NM_032590 "CCDS41850|CCDS41849" Q8NHM5 10799292 MGI:1354737 RGD:1310217 609078 objectId:2672 HGNC:13610 "ENST00000377071.9|NM_032590.5" HGNC:53287 KDM2B-DT KDM2B divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Divergent transcripts 1990 2019-06-14 2019-06-14 101928346 ENSG00000256742 OTTHUMG00000169072 NR_183427 HGNC:53287 HGNC:20815 KDM3A lysine demethylase 3A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "TSGA|KIAA0742|JHMD2A" jumonji C domain-containing histone demethylase 2A "JMJD1|JMJD1A" "jumonji domain containing 1|jumonji domain containing 1A|lysine (K)-specific demethylase 3A" Lysine demethylases 485 2003-04-09 2009-04-06 2016-02-12 2023-01-20 55818 ENSG00000115548 OTTHUMG00000130204 uc061lmi.1 AB018285 NM_018433 CCDS1990 Q9Y4C1 9872452 MGI:98847 RGD:708351 611512 objectId:2673 HGNC:20815 "ENST00000312912.10|NM_018433.6" HGNC:54795 KDM3AP1 KDM3A pseudogene 1 pseudogene pseudogene Approved 2q32.2 02q32.2 2020-01-08 2020-01-08 100420666 ENSG00000233996 NG_023642 HGNC:1337 KDM3B lysine demethylase 3B protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "KIAA1082|NET22" "C5orf7|JMJD1B" "chromosome 5 open reading frame 7|jumonji domain containing 1B|lysine (K)-specific demethylase 3B" Lysine demethylases 485 2000-07-21 2009-04-06 2016-02-12 2023-01-20 51780 ENSG00000120733 OTTHUMG00000163469 uc003lcy.1 AF251039 NM_016604 CCDS34242 Q7LBC6 "15138608|23593242" MGI:1923356 RGD:1583423 609373 objectId:2674 HGNC:1337 "ENST00000314358.10|NM_016604.4" HGNC:1337 HGNC:22978 KDM4A lysine demethylase 4A protein-coding gene gene with protein product Approved 1p34.2-p34.1 01p34.2-p34.1 "KIAA0677|JHDM3A|TDRD14A" "jumonji C domain-containing histone demethylase 3A|tudor domain containing 14A" "JMJD2|JMJD2A" "jumonji domain containing 2|jumonji domain containing 2A|lysine (K)-specific demethylase 4A" "Lysine demethylases|Tudor domain containing" "485|780" 2003-08-08 2009-04-06 2016-02-12 2023-01-20 9682 ENSG00000066135 OTTHUMG00000007560 uc001cjx.4 AB014577 NM_014663 CCDS491 O75164 "9734811|15138608" MGI:2446210 RGD:1306378 609764 objectId:2675 HGNC:22978 "ENST00000372396.4|NM_014663.3" HGNC:40528 KDM4A-AS1 KDM4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2-p34.1 01p34.2-p34.1 KDM4A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2018-02-13 100132774 ENSG00000236200 OTTHUMG00000007557 uc001cjy.6 BC073819 NR_033827 KDM4A-AS1 HGNC:40528 -HGNC:29136 KDM4B lysine demethylase 4B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA0876|TDRD14B" tudor domain containing 14B JMJD2B "jumonji domain containing 2B|lysine (K)-specific demethylase 4B" "Lysine demethylases|Tudor domain containing" "485|780" 2004-01-14 2009-04-06 2016-02-12 2023-01-20 23030 ENSG00000127663 OTTHUMG00000180281 uc002mbq.5 AB020683 NM_015015 "CCDS92494|CCDS92493|CCDS12138" O94953 "10048485|15138608" MGI:2442355 RGD:1588576 609765 objectId:2676 HGNC:29136 "ENST00000159111.9|NM_015015.3" HGNC:29136 -HGNC:17071 KDM4C lysine demethylase 4C protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "GASC1|KIAA0780|TDRD14C" tudor domain containing 14C JMJD2C "jumonji domain containing 2C|lysine (K)-specific demethylase 4C" "Lysine demethylases|Tudor domain containing" "485|780" 2004-01-14 2009-04-06 2016-02-12 2023-03-15 23081 ENSG00000107077 OTTHUMG00000019536 uc003zkh.4 AB018323 NM_015061 "CCDS6471|CCDS55285|CCDS78379|CCDS55286" Q9H3R0 "9872452|15138608" MGI:1924054 RGD:1307528 605469 objectId:2677 HGNC:17071 "ENST00000381309.8|NM_015061.6" +HGNC:29136 KDM4B lysine demethylase 4B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA0876|TDRD14B" tudor domain containing 14B JMJD2B "jumonji domain containing 2B|lysine (K)-specific demethylase 4B" "Lysine demethylases|Tudor domain containing" "485|780" 2004-01-14 2009-04-06 2016-02-12 2023-01-20 23030 ENSG00000127663 OTTHUMG00000180281 uc002mbq.5 AB020683 NM_015015 "CCDS12138|CCDS92493|CCDS92494" O94953 "10048485|15138608" MGI:2442355 RGD:1588576 609765 objectId:2676 HGNC:29136 "ENST00000159111.9|NM_015015.3" HGNC:29136 +HGNC:17071 KDM4C lysine demethylase 4C protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "GASC1|KIAA0780|TDRD14C" tudor domain containing 14C JMJD2C "jumonji domain containing 2C|lysine (K)-specific demethylase 4C" "Lysine demethylases|Tudor domain containing" "485|780" 2004-01-14 2009-04-06 2016-02-12 2023-03-15 23081 ENSG00000107077 OTTHUMG00000019536 uc003zkh.4 AB018323 NM_015061 "CCDS55285|CCDS55286|CCDS6471|CCDS78379" Q9H3R0 "9872452|15138608" MGI:1924054 RGD:1307528 605469 objectId:2677 HGNC:17071 "ENST00000381309.8|NM_015061.6" HGNC:25498 KDM4D lysine demethylase 4D protein-coding gene gene with protein product Approved 11q21 11q21 FLJ10251 JMJD2D "jumonji domain containing 2D|lysine (K)-specific demethylase 4D" Lysine demethylases 485 2004-01-14 2009-04-06 2016-02-12 2023-01-20 55693 ENSG00000186280 OTTHUMG00000167838 uc001pfe.4 AK001113 NM_018039 CCDS8302 Q6B0I6 15138608 MGI:3606484 RGD:1591045 609766 objectId:2678 HGNC:25498 "ENST00000335080.6|NM_018039.3" HGNC:37098 KDM4E lysine demethylase 4E protein-coding gene gene with protein product Approved 11q21 11q21 "JMJD2E|KDM5E" KDM4DL "lysine (K)-specific demethylase 4D-like|lysine (K)-specific demethylase 4E" Lysine demethylases 485 2009-06-12 2012-03-28 2016-02-12 2023-01-20 390245 ENSG00000235268 OTTHUMG00000167858 uc010ruf.1 BC157851 NM_001161630 CCDS44713 B2RXH2 21076780 616581 objectId:2679 HGNC:37098 "ENST00000450979.2|NM_001161630.1" HGNC:52413 KDM4F lysine demethylase 4F protein-coding gene gene with protein product Approved 11q21 11q21 JMJD2F Lysine demethylases 485 2016-11-04 2022-11-09 100129053 ENSG00000255855 OTTHUMG00000167862 NM_001413755 A0A1W2PPD8 15138608 PGOHUM00000291108 HGNC:52413 HGNC:9886 KDM5A lysine demethylase 5A protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "RBBP2|JARID1A" "retinoblastoma-binding protein 2|Jumonji, AT rich interactive domain 1A (RBBP2-like)|jumonji, AT rich interactive domain 1A|lysine (K)-specific demethylase 5A" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases|EMSY complex" "88|418|485|1243" 1992-09-17 2009-04-06 2016-02-12 2023-01-20 5927 ENSG00000073614 OTTHUMG00000168055 uc001qif.3 NM_005056 CCDS41736 P29375 1857421 MGI:2136980 RGD:1305429 KDM5A 180202 470542 objectId:2680 HGNC:9886 "ENST00000399788.7|NM_001042603.3" -HGNC:18039 KDM5B lysine demethylase 5B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RBBP2H1A|PLU-1|CT31|PPP1R98" "cancer/testis antigen 31|protein phosphatase 1, regulatory subunit 98" JARID1B "Jumonji, AT rich interactive domain 1B (RBP2-like)|jumonji, AT rich interactive domain 1B|lysine (K)-specific demethylase 5B" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases" "88|418|485" 2004-01-28 2009-04-06 2016-02-12 2023-01-20 10765 ENSG00000117139 OTTHUMG00000041401 uc001gyf.4 AJ243706 NM_006618 "CCDS81417|CCDS91143|CCDS91144|CCDS30974" Q9UGL1 "11483573|11478881" MGI:1922855 RGD:1565602 605393 470544 objectId:2681 HGNC:18039 "ENST00000367265.9|NM_006618.5" HGNC:18039 -HGNC:11114 KDM5C lysine demethylase 5C protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DXS1272E|XE169" "SMCX|JARID1C|MRX13" "Jumonji, AT rich interactive domain 1C (RBP2-like)|Smcy homolog, X-linked (mouse)|jumonji, AT rich interactive domain 1C|mental retardation, X-linked 13|lysine (K)-specific demethylase 5C" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases|MicroRNA protein coding host genes" "88|418|485|1691" 1999-04-23 2009-04-06 2016-02-12 2023-01-20 8242 ENSG00000126012 OTTHUMG00000021606 uc004drz.4 Z29650 NM_004187 "CCDS87747|CCDS94610|CCDS14351|CCDS94611|CCDS65269|CCDS55417" P41229 "7951230|8162017|19826449" MGI:99781 RGD:1560601 KDM5C database at LOVD|http://www.LOVD.nl/KDM5C KDM5C 314690 122732 objectId:2682 HGNC:11114 "ENST00000375401.8|NM_004187.5" HGNC:11114 +HGNC:18039 KDM5B lysine demethylase 5B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RBBP2H1A|PLU-1|CT31|PPP1R98" "cancer/testis antigen 31|protein phosphatase 1, regulatory subunit 98" JARID1B "Jumonji, AT rich interactive domain 1B (RBP2-like)|jumonji, AT rich interactive domain 1B|lysine (K)-specific demethylase 5B" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases" "88|418|485" 2004-01-28 2009-04-06 2016-02-12 2023-01-20 10765 ENSG00000117139 OTTHUMG00000041401 uc001gyf.4 AJ243706 NM_006618 "CCDS91143|CCDS91144|CCDS81417|CCDS30974" Q9UGL1 "11483573|11478881" MGI:1922855 RGD:1565602 605393 470544 objectId:2681 HGNC:18039 "ENST00000367265.9|NM_006618.5" HGNC:18039 +HGNC:11114 KDM5C lysine demethylase 5C protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DXS1272E|XE169" "SMCX|JARID1C|MRX13" "Jumonji, AT rich interactive domain 1C (RBP2-like)|Smcy homolog, X-linked (mouse)|jumonji, AT rich interactive domain 1C|mental retardation, X-linked 13|lysine (K)-specific demethylase 5C" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases|MicroRNA protein coding host genes" "88|418|485|1691" 1999-04-23 2009-04-06 2016-02-12 2023-01-20 8242 ENSG00000126012 OTTHUMG00000021606 uc004drz.4 Z29650 NM_004187 "CCDS94610|CCDS87747|CCDS14351|CCDS65269|CCDS94611|CCDS55417" P41229 "7951230|8162017|19826449" MGI:99781 RGD:1560601 KDM5C database at LOVD|http://www.LOVD.nl/KDM5C KDM5C 314690 122732 objectId:2682 HGNC:11114 "ENST00000375401.8|NM_004187.5" HGNC:11114 HGNC:41384 KDM5C-IT1 KDM5C intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xp11.22 Xp11.22 KDM5C intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-23 2015-02-25 2015-02-25 100874299 ENSG00000235262 OTTHUMG00000021604 uc064zkj.1 KDM5C-IT1 -HGNC:11115 KDM5D lysine demethylase 5D protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 KIAA0234 "HYA|HY|SMCY|JARID1D" "Jumonji, AT rich interactive domain 1D (RBP2-like)|Smcy homolog, Y-linked (mouse)|jumonji, AT rich interactive domain 1D|lysine (K)-specific demethylase 5D" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases|Minor histocompatibility antigens" "88|418|485|870" 1999-04-23 2009-04-06 2016-02-12 2023-01-20 8284 ENSG00000012817 OTTHUMG00000036508 uc011naz.3 U52191 NM_004653 "CCDS14794|CCDS55555|CCDS55554" Q9BY66 "795123|8841177" MGI:99780 RGD:2314436 426000 objectId:2683 HGNC:11115 "ENST00000317961.9|NM_004653.5" +HGNC:11115 KDM5D lysine demethylase 5D protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 KIAA0234 "HYA|HY|SMCY|JARID1D" "Jumonji, AT rich interactive domain 1D (RBP2-like)|Smcy homolog, Y-linked (mouse)|jumonji, AT rich interactive domain 1D|lysine (K)-specific demethylase 5D" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases|Minor histocompatibility antigens" "88|418|485|870" 1999-04-23 2009-04-06 2016-02-12 2023-01-20 8284 ENSG00000012817 OTTHUMG00000036508 uc011naz.3 U52191 NM_004653 "CCDS55555|CCDS55554|CCDS14794" Q9BY66 "795123|8841177" MGI:99780 RGD:2314436 426000 objectId:2683 HGNC:11115 "ENST00000317961.9|NM_004653.5" HGNC:23976 KDM5DP1 lysine demethylase 5D pseudogene 1 pseudogene pseudogene Approved Yq11.223 Yq11.223 SMCYP Smcy homolog, Y chromosome (mouse) pseudogene lysine (K)-specific demethylase 5D pseudogene 1 2009-12-17 2016-02-12 2016-10-11 359796 ENSG00000277438 OTTHUMG00000188101 NG_002818 12815422 PGOHUM00000233789 HGNC:23976 -HGNC:12637 KDM6A lysine demethylase 6A protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 UTX "ubiquitously transcribed tetratricopeptide repeat, X chromosome|lysine (K)-specific demethylase 6A" "Lysine demethylases|Tetratricopeptide repeat domain containing" "485|769" 1998-08-05 2009-04-17 2016-02-12 2023-01-20 7403 ENSG00000147050 OTTHUMG00000021402 uc004dge.5 AF000992 NM_021140 "CCDS94604|CCDS94601|CCDS14265|CCDS94603|CCDS94599|CCDS94600" O15550 "9499428|9381176" MGI:1095419 RGD:9275041 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UTX|LRG_616|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_616.xml" KDM6A 300128 290568 objectId:2684 HGNC:12637 "ENST00000611820.5|NM_001291415.2" HGNC:12637 -HGNC:29012 KDM6B lysine demethylase 6B protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KIAA0346 JMJD3 "jumonji domain containing 3|jumonji domain containing 3, histone lysine demethylase|lysine (K)-specific demethylase 6B" Lysine demethylases 485 2004-02-27 2009-04-17 2016-02-12 2023-01-20 23135 ENSG00000132510 OTTHUMG00000178021 uc002giw.2 AB002344 NM_001080424 "CCDS32552|CCDS86569" O15054 "10662545|9205841" MGI:2448492 RGD:1307629 611577 objectId:2685 HGNC:29012 "ENST00000448097.7|NM_001348716.2" HGNC:29012 +HGNC:12637 KDM6A lysine demethylase 6A protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 UTX "ubiquitously transcribed tetratricopeptide repeat, X chromosome|lysine (K)-specific demethylase 6A" "Lysine demethylases|Tetratricopeptide repeat domain containing" "485|769" 1998-08-05 2009-04-17 2016-02-12 2023-01-20 7403 ENSG00000147050 OTTHUMG00000021402 uc004dge.5 AF000992 NM_021140 "CCDS94599|CCDS94604|CCDS94601|CCDS94603|CCDS94600|CCDS14265" O15550 "9499428|9381176" MGI:1095419 RGD:9275041 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UTX|LRG_616|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_616.xml" KDM6A 300128 290568 objectId:2684 HGNC:12637 "ENST00000611820.5|NM_001291415.2" HGNC:12637 +HGNC:29012 KDM6B lysine demethylase 6B protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KIAA0346 JMJD3 "jumonji domain containing 3|jumonji domain containing 3, histone lysine demethylase|lysine (K)-specific demethylase 6B" Lysine demethylases 485 2004-02-27 2009-04-17 2016-02-12 2023-01-20 23135 ENSG00000132510 OTTHUMG00000178021 uc002giw.2 AB002344 NM_001080424 "CCDS86569|CCDS32552" O15054 "10662545|9205841" MGI:2448492 RGD:1307629 611577 objectId:2685 HGNC:29012 "ENST00000448097.7|NM_001348716.2" HGNC:29012 HGNC:22224 KDM7A lysine demethylase 7A protein-coding gene gene with protein product Approved 7q34 07q34 KIAA1718 JHDM1D "jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae)|lysine (K)-specific demethylase 7A" "PHD finger proteins|Lysine demethylases" "88|485" 2007-03-26 2013-11-04 2016-02-12 2023-01-20 80853 ENSG00000006459 OTTHUMG00000157327 NM_030647 CCDS43658 Q6ZMT4 "20023638|20084082" MGI:2443388 RGD:1592650 619640 objectId:2686 HGNC:22224 "ENST00000397560.7|NM_030647.2" HGNC:48959 KDM7A-DT KDM7A divergent transcript non-coding RNA RNA, long non-coding Approved 7q34 07q34 JHDM1D-AS1 JHDM1D antisense RNA 1 (head to head) Divergent transcripts 1990 2013-07-23 2018-03-23 2018-03-23 2019-07-11 100134229 ENSG00000260231 OTTHUMG00000173155 NR_024451 31276733 JHDM1D-AS1 HGNC:48959 HGNC:25840 KDM8 lysine demethylase 8 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 FLJ13798 JmjC arginyl-hydroxylase JMJD5 "jumonji domain containing 5|lysine (K)-specific demethylase 8" Lysine demethylases 485 2006-02-17 2012-03-28 2016-02-12 2023-01-20 79831 ENSG00000155666 OTTHUMG00000131677 uc002doh.3 AK023860 NM_024773 "CCDS10627|CCDS45448" Q8N371 "20457893|29563586" MGI:1924285 RGD:1304823 611917 objectId:2687 HGNC:25840 "ENST00000286096.9|NM_024773.3" @@ -13910,44 +13911,44 @@ HGNC:37274 KHDC1L KH domain containing 1 like protein-coding gene gene with prot HGNC:43757 KHDC1P1 KH domain containing 1 pseudogene 1 pseudogene pseudogene Approved 6q13 06q13 KH homology domain containing 1 pseudogene 1 2012-02-22 2017-07-20 2017-07-20 653194 ENSG00000251360 OTTHUMG00000132475 17913455 HGNC:43757 HGNC:33699 KHDC3L KH domain containing 3 like, subcortical maternal complex member protein-coding gene gene with protein product Approved 6q13 06q13 ECAT1 ES cell associated transcript 1 C6orf221 "chromosome 6 open reading frame 221|KH domain containing 3-like, subcortical maternal complex member" Subcortical maternal complex 1684 2007-11-15 2012-06-25 2016-02-25 2023-01-20 154288 ENSG00000203908 OTTHUMG00000015024 uc003pgt.5 AB211062 NM_001017361 CCDS34484 Q587J8 "21885028|23125094" MGI:1914241 RGD:1311617 611687 287584 HGNC:33699 "ENST00000370367.4|NM_001017361.3" HGNC:33699 HGNC:29145 KHDC4 KH domain containing 4, pre-mRNA splicing factor protein-coding gene gene with protein product Approved 1q22 01q22 "BLOM7|SNORA80EHG" KIAA0907 KIAA0907 Small nucleolar RNA protein coding host genes 1835 2005-07-14 2017-09-20 2017-09-20 2023-01-20 22889 ENSG00000132680 OTTHUMG00000014103 uc001fmi.2 BC062637 NM_014949 CCDS30885 Q7Z7F0 "19641227|21986946|23144703" MGI:1921450 RGD:1565775 619370 HGNC:29145 "ENST00000368321.8|NM_014949.4" -HGNC:18116 KHDRBS1 KH RNA binding domain containing, signal transduction associated 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "Sam68|p62|FLJ34027" "GAP-associated tyrosine phosphoprotein p62|Src-associated in mitosis 68 kDa protein" Signal transduction and activation of RNA metabolism family 1275 2002-02-28 2016-05-23 2023-01-20 10657 ENSG00000121774 OTTHUMG00000003921 uc001bub.5 U78971 NM_006559 "CCDS350|CCDS60067" Q07666 "1374686|10564820" MGI:893579 RGD:621459 602489 HGNC:18116 "ENST00000327300.12|NM_006559.3" +HGNC:18116 KHDRBS1 KH RNA binding domain containing, signal transduction associated 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "Sam68|p62|FLJ34027" "GAP-associated tyrosine phosphoprotein p62|Src-associated in mitosis 68 kDa protein" Signal transduction and activation of RNA metabolism family 1275 2002-02-28 2016-05-23 2023-01-20 10657 ENSG00000121774 OTTHUMG00000003921 uc001bub.5 U78971 NM_006559 "CCDS60067|CCDS350" Q07666 "1374686|10564820" MGI:893579 RGD:621459 602489 HGNC:18116 "ENST00000327300.12|NM_006559.3" HGNC:18114 KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 protein-coding gene gene with protein product Approved 6q11.1 06q11.1 "SLM1|SLM-1|MGC26664" Sam68-like mammalian protein 1 Signal transduction and activation of RNA metabolism family 1275 2002-02-28 2016-05-23 2023-01-20 202559 ENSG00000112232 OTTHUMG00000014936 uc003peg.3 BC034043 NM_152688 CCDS4963 Q5VWX1 MGI:2159649 RGD:621738 610487 HGNC:18114 "ENST00000281156.5|NM_152688.4" HGNC:53911 KHDRBS2-OT1 KHDRBS2 3'UTR overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 6q11.1 06q11.1 KHDRBS2-OT Overlapping transcripts 1988 2018-05-24 2019-12-13 2019-12-13 112577463 ENSG00000250686 OTTHUMG00000014935 HGNC:18117 KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 protein-coding gene gene with protein product Approved 8q24.23 08q24.23 "T-STAR|Etle|etoile|SALP|SLM2|SLM-2" KH domain containing, RNA binding, signal transduction associated 3 Signal transduction and activation of RNA metabolism family 1275 2002-02-28 2016-05-23 2023-01-20 10656 ENSG00000131773 OTTHUMG00000164164 uc003yuv.4 AF069681 NM_006558 CCDS6374 O75525 "10332027|10564820" MGI:1313312 RGD:620921 610421 HGNC:18117 "ENST00000355849.10|NM_006558.3" -HGNC:6315 KHK ketohexokinase protein-coding gene gene with protein product Approved 2p23.3 02p23.3 fructokinase ketohexokinase (fructokinase) 1994-12-19 2015-11-05 2023-01-20 3795 ENSG00000138030 OTTHUMG00000097077 uc002rim.3 NM_000221 "CCDS1735|CCDS1734" P50053 7833921 MGI:1096353 RGD:2966 614058 122829 2.7.1.3 HGNC:6315 "ENST00000260598.10|NM_006488.3" HGNC:6315 +HGNC:6315 KHK ketohexokinase protein-coding gene gene with protein product Approved 2p23.3 02p23.3 fructokinase ketohexokinase (fructokinase) 1994-12-19 2015-11-05 2023-01-20 3795 ENSG00000138030 OTTHUMG00000097077 uc002rim.3 NM_000221 "CCDS1734|CCDS1735" P50053 7833921 MGI:1096353 RGD:2966 614058 122829 2.7.1.3 HGNC:6315 "ENST00000260598.10|NM_006488.3" HGNC:6315 HGNC:20166 KHNYN KH and NYN domain containing protein-coding gene gene with protein product Approved 14q12 14q12 KIAA0323 KIAA0323 2003-11-21 2009-10-14 2009-10-14 2023-01-20 23351 ENSG00000100441 OTTHUMG00000171312 uc010tpc.3 AB002321 NM_001290256 CCDS32058 O15037 "17114934|31284899" MGI:2451333 RGD:1565688 619579 HGNC:20166 "ENST00000553935.6|NM_015299.3" -HGNC:6316 KHSRP KH-type splicing regulatory protein protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KSRP|FBP2|FUBP2" FUSE binding protein 2 MicroRNA protein coding host genes 1691 1998-11-17 2008-02-04 2023-01-20 8570 ENSG00000088247 OTTHUMG00000180850 uc002mer.5 U94832 NM_001366299 "CCDS45936|CCDS92499" Q92945 "9136930|8940189" MGI:1336214 RGD:621828 603445 HGNC:6316 "ENST00000600480.2|NM_001366299.1" +HGNC:6316 KHSRP KH-type splicing regulatory protein protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KSRP|FBP2|FUBP2" FUSE binding protein 2 MicroRNA protein coding host genes 1691 1998-11-17 2008-02-04 2023-01-20 8570 ENSG00000088247 OTTHUMG00000180850 uc002mer.5 U94832 NM_001366299 "CCDS92499|CCDS45936" Q92945 "9136930|8940189" MGI:1336214 RGD:621828 603445 HGNC:6316 "ENST00000600480.2|NM_001366299.1" HGNC:39198 KHSRPP1 KH-type splicing regulatory protein pseudogene 1 pseudogene pseudogene Approved 9p21.3 09p21.3 2010-11-23 2012-10-16 402359 ENSG00000229835 OTTHUMG00000019683 NG_006557 PGOHUM00000263229 HGNC:39198 HGNC:28950 KIAA0040 KIAA0040 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 2005-03-17 2023-01-20 9674 ENSG00000235750 OTTHUMG00000034880 uc001gko.4 D25539 NM_014656 CCDS86034 Q15053 24829844 MGI:1914897 RGD:2311260 616696 HGNC:28950 "ENST00000423313.6|NM_014656.3" HGNC:22191 KIAA0087 KIAA0087 lncRNA non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 KIAA0087 Long non-coding RNAs with non-systematic symbols 1992 2007-07-23 2016-12-21 2016-12-21 9808 ENSG00000122548 OTTHUMG00000023321 uc003sya.3 BC128257 NR_022006 Q14695 27748922 HGNC:22191 HGNC:28992 KIAA0232 KIAA0232 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2007-07-23 2023-01-20 9778 ENSG00000170871 OTTHUMG00000160072 uc003gjq.5 D86985 NM_014743 CCDS43209 Q92628 9039502 MGI:1261849 RGD:1596848 619237 HGNC:28992 "ENST00000307659.6|NM_014743.3" -HGNC:21580 KIAA0319 KIAA0319 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 NMIG neuronal migration 2003-11-21 2023-01-20 9856 ENSG00000137261 OTTHUMG00000014358 uc003neh.2 AB002317 NM_014809 "CCDS34348|CCDS54970|CCDS75409|CCDS54969|CCDS54971" Q5VV43 "15514892|28334068|29045729|35031635" MGI:3036268 RGD:1307443 609269 HGNC:21580 "ENST00000378214.8|NM_014809.4" +HGNC:21580 KIAA0319 KIAA0319 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 NMIG neuronal migration 2003-11-21 2023-01-20 9856 ENSG00000137261 OTTHUMG00000014358 uc003neh.2 AB002317 NM_014809 "CCDS54970|CCDS34348|CCDS54969|CCDS75409|CCDS54971" Q5VV43 "15514892|28334068|29045729|35031635" MGI:3036268 RGD:1307443 609269 HGNC:21580 "ENST00000378214.8|NM_014809.4" HGNC:30071 KIAA0319L KIAA0319 like protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "KIAA1837|AAVR" AAV receptor KIAA0319-like 2005-04-01 2016-01-21 2023-03-15 79932 ENSG00000142687 OTTHUMG00000004370 uc001byx.4 AY163234 NM_024874 CCDS390 Q8IZA0 "11347906|26814968|29991750" MGI:2140475 RGD:2306719 613535 364825 HGNC:30071 "ENST00000325722.8|NM_024874.5" HGNC:21636 KIAA0408 KIAA0408 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 2003-11-21 2023-01-20 9729 ENSG00000189367 OTTHUMG00000166439 uc011ebs.3 AB007868 NM_014702 CCDS34531 Q6ZU52 MGI:3036239 RGD:1307525 619236 HGNC:21636 "ENST00000483725.8|NM_014702.5" -HGNC:29058 KIAA0513 KIAA0513 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 2004-08-13 2023-01-20 9764 ENSG00000135709 OTTHUMG00000176597 uc010voj.4 AB011085 NM_014732 "CCDS32499|CCDS73919|CCDS67091" O60268 17010949 MGI:2443793 RGD:1304884 611675 HGNC:29058 "ENST00000683363.1|NM_001388359.1" -HGNC:19960 KIAA0586 KIAA0586 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "Talpid3|JBTS23" 2003-11-21 2023-01-20 9786 ENSG00000100578 OTTHUMG00000171141 uc001xdv.5 AB011158 NM_014749 "CCDS58322|CCDS73639|CCDS91882|CCDS58320|CCDS45115|CCDS58321" Q9BVV6 "16702409|26026149|26096313|26386247|27146717|29396404" MGI:1924217 RGD:1585176 LRG_1096|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1096.xml 610178 435787 HGNC:19960 "ENST00000652326.2|NM_001329943.3" HGNC:19960 -HGNC:29110 KIAA0753 KIAA0753 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "OFIP|MNR" "moonraker|OFD1 and FOR20 interacting protein" 2005-12-13 2023-01-20 9851 ENSG00000198920 OTTHUMG00000177928 uc002gde.5 NM_014804 "CCDS42247|CCDS86564" Q2KHM9 "24613305|26643951|26297806" MGI:1921727 RGD:1304728 617112 476149 HGNC:29110 "ENST00000361413.8|NM_014804.3" HGNC:29110 -HGNC:28532 KIAA0825 KIAA0825 protein-coding gene gene with protein product Approved 5q15 05q15 "DKFZp686F0372|MGC34713" C5orf36 chromosome 5 open reading frame 36 Armadillo like helical domain containing 1492 2006-11-03 2011-02-23 2011-02-23 2023-05-18 285600 ENSG00000185261 OTTHUMG00000131331 uc003kkp.3 BX648338 NM_173665 "CCDS93746|CCDS4070|CCDS93745" Q8IV33 "27381092|30982135|35886013" MGI:1919621 RGD:1560883 617266 HGNC:28532 "ENST00000682413.1|NM_001145678.3" HGNC:28532 +HGNC:29058 KIAA0513 KIAA0513 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 2004-08-13 2023-01-20 9764 ENSG00000135709 OTTHUMG00000176597 uc010voj.4 AB011085 NM_014732 "CCDS73919|CCDS32499|CCDS67091" O60268 17010949 MGI:2443793 RGD:1304884 611675 HGNC:29058 "ENST00000683363.1|NM_001388359.1" +HGNC:19960 KIAA0586 KIAA0586 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "Talpid3|JBTS23" 2003-11-21 2023-01-20 9786 ENSG00000100578 OTTHUMG00000171141 uc001xdv.5 AB011158 NM_014749 "CCDS58320|CCDS73639|CCDS58321|CCDS91882|CCDS45115|CCDS58322" Q9BVV6 "16702409|26026149|26096313|26386247|27146717|29396404" MGI:1924217 RGD:1585176 LRG_1096|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1096.xml 610178 435787 HGNC:19960 "ENST00000652326.2|NM_001329943.3" HGNC:19960 +HGNC:29110 KIAA0753 KIAA0753 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "OFIP|MNR" "moonraker|OFD1 and FOR20 interacting protein" 2005-12-13 2023-01-20 9851 ENSG00000198920 OTTHUMG00000177928 uc002gde.5 NM_014804 "CCDS86564|CCDS42247" Q2KHM9 "24613305|26643951|26297806" MGI:1921727 RGD:1304728 617112 476149 HGNC:29110 "ENST00000361413.8|NM_014804.3" HGNC:29110 +HGNC:28532 KIAA0825 KIAA0825 protein-coding gene gene with protein product Approved 5q15 05q15 "DKFZp686F0372|MGC34713" C5orf36 chromosome 5 open reading frame 36 Armadillo like helical domain containing 1492 2006-11-03 2011-02-23 2011-02-23 2023-05-18 285600 ENSG00000185261 OTTHUMG00000131331 uc003kkp.3 BX648338 NM_173665 "CCDS93746|CCDS93745|CCDS4070" Q8IV33 "27381092|30982135|35886013" MGI:1919621 RGD:1560883 617266 HGNC:28532 "ENST00000682413.1|NM_001145678.3" HGNC:28532 HGNC:53865 KIAA0895LP1 KIAA00895L pseudogene 1 pseudogene pseudogene Approved 18p11.22 18p11.22 2018-04-30 2018-04-30 100128238 ENSG00000264714 OTTHUMG00000178481 NG_034005 PGOHUM00000294719 HGNC:53865 -HGNC:1314 KIAA0930 KIAA0930 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 bK268H5.C22.1 C22orf9 chromosome 22 open reading frame 9 MicroRNA protein coding host genes 1691 2000-03-29 2011-02-23 2011-02-23 2023-01-20 23313 ENSG00000100364 OTTHUMG00000151263 uc003bfx.2 AK025608 NM_001009880 "CCDS33665|CCDS33666" Q6ICG6 10231032 MGI:2444899 RGD:1304694 619709 HGNC:1314 "ENST00000336156.10|NM_001009880.2" +HGNC:1314 KIAA0930 KIAA0930 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 bK268H5.C22.1 C22orf9 chromosome 22 open reading frame 9 MicroRNA protein coding host genes 1691 2000-03-29 2011-02-23 2011-02-23 2023-01-20 23313 ENSG00000100364 OTTHUMG00000151263 uc003bfx.2 AK025608 NM_001009880 "CCDS33666|CCDS33665" Q6ICG6 10231032 MGI:2444899 RGD:1304694 619709 HGNC:1314 "ENST00000336156.10|NM_001009880.2" HGNC:29198 KIAA1143 KIAA1143 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 2005-03-04 2023-01-20 57456 ENSG00000163807 OTTHUMG00000133088 uc011bac.3 AB032969 NM_020696 CCDS2721 Q96AT1 10574461 MGI:1913452 RGD:1311745 HGNC:29198 "ENST00000296121.6|NM_020696.4" HGNC:54591 KIAA1143P1 KIAA1143 pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 2019-10-17 2019-10-17 644295 ENSG00000259086 OTTHUMG00000170591 NG_005558 HGNC:54594 KIAA1143P2 KIAA1143 pseudogene 2 pseudogene pseudogene Approved 3p24.1 03p24.1 2019-10-17 2019-10-17 107986034 ENSG00000232766 OTTHUMG00000155632 PGOHUM00000298977 -HGNC:29209 KIAA1191 KIAA1191 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "FLJ21022|p33MONOX|p60MONOX" p60MONOX brain-derived rescue factor 2006-01-31 2023-01-20 57179 ENSG00000122203 OTTHUMG00000130656 uc003mdw.5 BC010448 NM_020444 "CCDS4399|CCDS43402|CCDS75373" Q96A73 "21153684|34989828" MGI:1921162 RGD:1359256 HGNC:29209 "ENST00000298569.9|NM_020444.5" +HGNC:29209 KIAA1191 KIAA1191 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "FLJ21022|p33MONOX|p60MONOX" p60MONOX brain-derived rescue factor 2006-01-31 2023-01-20 57179 ENSG00000122203 OTTHUMG00000130656 uc003mdw.5 BC010448 NM_020444 "CCDS43402|CCDS4399|CCDS75373" Q96A73 "21153684|34989828" MGI:1921162 RGD:1359256 HGNC:29209 "ENST00000298569.9|NM_020444.5" HGNC:56785 KIAA1191P1 KIAA1191 pseudogene 1 pseudogene pseudogene Approved 4q27 04q27 2023-04-18 2023-04-18 100418710 ENSG00000213480 NG_025158 PGOHUM00000299983 HGNC:56786 KIAA1191P2 KIAA1191 pseudogene 2 pseudogene pseudogene Approved 11q22.1 11q22.1 2023-04-18 2023-04-18 100127938 ENSG00000254506 NG_021832 PGOHUM00000291117 HGNC:56787 KIAA1191P3 KIAA1191 pseudogene 3 pseudogene pseudogene Approved 1q42.13 01q42.13 2023-04-18 2023-04-18 100131918 ENSG00000213028 NG_022757 PGOHUM00000296093 HGNC:29218 KIAA1210 KIAA1210 protein-coding gene gene with protein product Approved Xq24 Xq24 2008-10-30 2023-01-20 57481 ENSG00000250423 OTTHUMG00000162980 uc004era.4 AB033036 NM_020721 "CCDS48156|CCDS94659" Q9ULL0 "10574462|28203736|31995159" MGI:3705243 RGD:1561445 300995 HGNC:29218 "ENST00000691062.1|NM_001394962.1" -HGNC:25428 KIAA1217 KIAA1217 protein-coding gene gene with protein product Approved 10p12.2-p12.1 10p12.2-p12.1 "DKFZP761L0424|SKT|ETL4" sickle tail MicroRNA protein coding host genes 1691 2004-02-04 2023-01-20 56243 ENSG00000120549 OTTHUMG00000017824 uc001iru.6 BX640796 NM_019590 "CCDS60502|CCDS60505|CCDS60504|CCDS31165|CCDS60501|CCDS41496" Q5T5P2 "10574462|27150058|32369272" MGI:95454 RGD:1563437 617367 HGNC:25428 "ENST00000376454.8|NM_019590.5" +HGNC:25428 KIAA1217 KIAA1217 protein-coding gene gene with protein product Approved 10p12.2-p12.1 10p12.2-p12.1 "DKFZP761L0424|SKT|ETL4" sickle tail MicroRNA protein coding host genes 1691 2004-02-04 2023-01-20 56243 ENSG00000120549 OTTHUMG00000017824 uc001iru.6 BX640796 NM_019590 "CCDS60504|CCDS60501|CCDS60505|CCDS60502|CCDS41496|CCDS31165" Q5T5P2 "10574462|27150058|32369272" MGI:95454 RGD:1563437 617367 HGNC:25428 "ENST00000376454.8|NM_019590.5" HGNC:29248 KIAA1328 KIAA1328 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 hinderin 2005-01-11 2023-01-20 57536 ENSG00000150477 OTTHUMG00000178087 uc002kzz.4 AB037749 NM_020776 CCDS45855 Q86T90 "15656913|28596423" MGI:2147376 RGD:1562608 616480 HGNC:29248 "ENST00000280020.10|NM_020776.3" HGNC:56561 KIAA1328P1 KIAA1328 pseudogene 1 pseudogene pseudogene Approved 3q25.2 03q25.2 2022-11-02 2022-11-02 100418712 ENSG00000241671 NG_025642 PGOHUM00000299231 -HGNC:29301 KIAA1522 KIAA1522 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 2005-06-03 2023-01-20 57648 ENSG00000162522 OTTHUMG00000008088 uc001bvu.2 AL713671 NM_001198972 "CCDS55589|CCDS41298|CCDS55588|CCDS90910" Q9P206 "10819331|27098511" MGI:2140651 RGD:1561149 HGNC:29301 "ENST00000401073.7|NM_020888.3" -HGNC:22219 KIAA1549 KIAA1549 protein-coding gene gene with protein product Approved 7q34 07q34 2008-04-22 2023-01-20 57670 ENSG00000122778 OTTHUMG00000157214 uc011kqj.3 NM_001164665 "CCDS56513|CCDS47723" Q9HCM3 "30120214|34027671" MGI:2669829 RGD:1306271 613344 353524 HGNC:22219 "ENST00000422774.2|NM_001164665.2" HGNC:22219 +HGNC:29301 KIAA1522 KIAA1522 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 2005-06-03 2023-01-20 57648 ENSG00000162522 OTTHUMG00000008088 uc001bvu.2 AL713671 NM_001198972 "CCDS41298|CCDS90910|CCDS55588|CCDS55589" Q9P206 "10819331|27098511" MGI:2140651 RGD:1561149 HGNC:29301 "ENST00000401073.7|NM_020888.3" +HGNC:22219 KIAA1549 KIAA1549 protein-coding gene gene with protein product Approved 7q34 07q34 2008-04-22 2023-01-20 57670 ENSG00000122778 OTTHUMG00000157214 uc011kqj.3 NM_001164665 "CCDS47723|CCDS56513" Q9HCM3 "30120214|34027671" MGI:2669829 RGD:1306271 613344 353524 HGNC:22219 "ENST00000422774.2|NM_001164665.2" HGNC:22219 HGNC:24836 KIAA1549L KIAA1549 like protein-coding gene gene with protein product Approved 11p13 11p13 "G2|MGC34830" "C11orf69|C11orf41" "chromosome 11 open reading frame 69|chromosome 11 open reading frame 41" 2005-10-04 2012-08-09 2016-06-13 2023-01-20 25758 ENSG00000110427 OTTHUMG00000150410 uc021qfs.2 U10991 NM_012194 "CCDS44565|CCDS91457" Q6ZVL6 26157485 MGI:2181743 RGD:2323964 612297 470548 HGNC:24836 "ENST00000658780.2|NM_012194.3" HGNC:21360 KIAA1586 KIAA1586 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 2003-11-21 2023-01-20 57691 ENSG00000168116 OTTHUMG00000014915 uc003pdj.5 AB046806 NM_020931 "CCDS34480|CCDS69138" Q9HCI6 "10997877|26524493" HGNC:21360 "ENST00000370733.5|NM_020931.4" HGNC:29327 KIAA1614 KIAA1614 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 2005-05-24 2023-01-20 57710 ENSG00000135835 OTTHUMG00000035183 uc001gok.3 AB046834 NM_020950 CCDS41442 Q5VZ46 MGI:2672904 RGD:1304622 HGNC:29327 "ENST00000367588.9|NM_020950.2" HGNC:50644 KIAA1614-AS1 KIAA1614 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 RP11-46A10.4 Antisense RNAs 1987 2014-06-03 2014-06-17 103344928 ENSG00000232586 OTTHUMG00000035173 AK026359 NR_145481 24886442 KIAA1614-AS1 HGNC:50644 -HGNC:29345 KIAA1671 KIAA1671 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 2009-07-09 2023-02-20 85379 ENSG00000197077 OTTHUMG00000150841 uc062clx.1 NM_001145206 "CCDS46676|CCDS93136|CCDS93135" Q9BY89 "15289310|27037360|36790915" MGI:1920194 RGD:1306556 HGNC:29345 "ENST00000358431.8|NM_001145206.2" +HGNC:29345 KIAA1671 KIAA1671 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 2009-07-09 2023-02-20 85379 ENSG00000197077 OTTHUMG00000150841 uc062clx.1 NM_001145206 "CCDS93135|CCDS93136|CCDS46676" Q9BY89 "15289310|27037360|36790915" MGI:1920194 RGD:1306556 HGNC:29345 "ENST00000358431.8|NM_001145206.2" HGNC:41238 KIAA1671-AS1 KIAA1671 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 Antisense RNAs 1987 2019-08-15 2019-08-15 100128531 ENSG00000203280 OTTHUMG00000150908 NR_038941 HGNC:41238 HGNC:29372 KIAA1755 KIAA1755 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "RP5-1054A22.3|quo" quattro homolog (zebrafish) 2007-12-07 2023-01-20 85449 ENSG00000149633 OTTHUMG00000032436 uc002xhy.2 AB051542 NM_001029864 CCDS33467 Q5JYT7 "11214970|32678143" MGI:3606579 RGD:1563354 HGNC:29372 "ENST00000279024.9|NM_001029864.2" HGNC:23427 KIAA1958 KIAA1958 protein-coding gene gene with protein product Approved 9q32 09q32 FLJ39294 2003-11-18 2023-01-20 158405 ENSG00000165185 OTTHUMG00000020508 uc064vco.1 AB075838 NM_133465 "CCDS35108|CCDS69642" Q8N8K9 22011512 MGI:2442164 RGD:1310951 617390 HGNC:23427 "ENST00000337530.11|NM_133465.4" @@ -13956,15 +13957,15 @@ HGNC:41164 KIAA2012-AS1 KIAA2012 antisense RNA 1 non-coding RNA RNA, long non-co HGNC:28513 KIAA2013 KIAA2013 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "MGC33867|RP5-1077B9.1" 2005-07-13 2023-01-20 90231 ENSG00000116685 OTTHUMG00000002391 uc001atk.4 AB095933 NM_138346 CCDS141 Q8IYS2 12477932 MGI:1924284 RGD:1305350 HGNC:28513 "ENST00000376572.8|NM_138346.3" HGNC:23378 KIAA2026 KIAA2026 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 FLJ20375 2003-11-21 2023-03-15 158358 ENSG00000183354 OTTHUMG00000019507 uc003zjq.5 AB095946 NM_001017969 Q5HYC2 MGI:2444398 RGD:1311595 HGNC:23378 "ENST00000399933.8|NM_001017969.3" HGNC:26517 KICS2 KICSTOR subunit 2 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 FLJ32549 C12orf66 chromosome 12 open reading frame 66 KICSTOR complex 1393 2008-06-19 2021-02-08 2021-02-08 2023-01-20 144577 ENSG00000174206 OTTHUMG00000168763 uc001srw.5 NM_152440 "CCDS73490|CCDS41803|CCDS76574" Q96MD2 28199306 MGI:2670984 RGD:1565498 617420 HGNC:26517 "ENST00000398055.8|NM_152440.5" -HGNC:29508 KIDINS220 kinase D interacting substrate 220 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 ARMS ankyrin repeat-rich membrane-spanning protein kinase D-interacting substrate 220kDa Ankyrin repeat domain containing 403 2008-11-25 2016-11-23 2023-01-20 57498 ENSG00000134313 OTTHUMG00000151658 uc002qzc.2 AK025528 NM_020738 "CCDS86818|CCDS42650|CCDS86819|CCDS92711|CCDS92712" Q9ULH0 "10998417|10574462" MGI:1924730 RGD:619949 615759 470550 HGNC:29508 "ENST00000256707.8|NM_020738.4" HGNC:29508 -HGNC:888 KIF1A kinesin family member 1A protein-coding gene gene with protein product Approved 2q37.3 02q37.3 UNC104 "ATSV|C2orf20|SPG30" "axonal transport of synaptic vesicles|chromosome 2 open reading frame 20|spastic paraplegia 30 (autosomal recessive)" "Kinesins|Pleckstrin homology domain containing" "622|682" 1995-12-18 2004-01-14 2004-01-09 2023-01-20 547 ENSG00000130294 OTTHUMG00000151940 uc031rsb.2 AF004425 NM_138483 "CCDS92988|CCDS92989|CCDS92990|CCDS92991|CCDS58757|CCDS92993|CCDS46561|CCDS92987|CCDS92992" Q12756 "7539720|10323250|22258533" MGI:108391 RGD:1304996 LRG_367|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_367.xml 601255 279771 HGNC:888 "ENST00000498729.9|NM_001244008.2" HGNC:888 -HGNC:16636 KIF1B kinesin family member 1B protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "KIAA0591|KLP|HMSNII" Charcot-Marie-Tooth neuropathy type II "CMT2A|CMT2" "Kinesins|Pleckstrin homology domain containing|MicroRNA protein coding host genes" "622|682|1691" 2001-11-14 2023-01-20 23095 ENSG00000054523 OTTHUMG00000001817 uc001aqw.5 AF257176 NM_001365951 "CCDS111|CCDS90858|CCDS112" O60333 "11389829|10762626|7528108" MGI:108426 RGD:621520 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_252|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_252.xml" 605995 122840 HGNC:16636 "ENST00000676179.1|NM_001365951.3" HGNC:16636 +HGNC:29508 KIDINS220 kinase D interacting substrate 220 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 ARMS ankyrin repeat-rich membrane-spanning protein kinase D-interacting substrate 220kDa Ankyrin repeat domain containing 403 2008-11-25 2016-11-23 2023-01-20 57498 ENSG00000134313 OTTHUMG00000151658 uc002qzc.2 AK025528 NM_020738 "CCDS86819|CCDS92711|CCDS86818|CCDS42650|CCDS92712" Q9ULH0 "10998417|10574462" MGI:1924730 RGD:619949 615759 470550 HGNC:29508 "ENST00000256707.8|NM_020738.4" HGNC:29508 +HGNC:888 KIF1A kinesin family member 1A protein-coding gene gene with protein product Approved 2q37.3 02q37.3 UNC104 "ATSV|C2orf20|SPG30" "axonal transport of synaptic vesicles|chromosome 2 open reading frame 20|spastic paraplegia 30 (autosomal recessive)" "Kinesins|Pleckstrin homology domain containing" "622|682" 1995-12-18 2004-01-14 2004-01-09 2023-01-20 547 ENSG00000130294 OTTHUMG00000151940 uc031rsb.2 AF004425 NM_138483 "CCDS58757|CCDS92987|CCDS92988|CCDS92989|CCDS92991|CCDS92992|CCDS92993|CCDS92990|CCDS46561" Q12756 "7539720|10323250|22258533" MGI:108391 RGD:1304996 LRG_367|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_367.xml 601255 279771 HGNC:888 "ENST00000498729.9|NM_001244008.2" HGNC:888 +HGNC:16636 KIF1B kinesin family member 1B protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "KIAA0591|KLP|HMSNII" Charcot-Marie-Tooth neuropathy type II "CMT2A|CMT2" "Kinesins|Pleckstrin homology domain containing|MicroRNA protein coding host genes" "622|682|1691" 2001-11-14 2023-01-20 23095 ENSG00000054523 OTTHUMG00000001817 uc001aqw.5 AF257176 NM_001365951 "CCDS111|CCDS112|CCDS90858" O60333 "11389829|10762626|7528108" MGI:108426 RGD:621520 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_252|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_252.xml" 605995 122840 HGNC:16636 "ENST00000676179.1|NM_001365951.3" HGNC:16636 HGNC:6317 KIF1C kinesin family member 1C protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "SPAX2|SPG58" SAX2 spastic ataxia 2 (autosomal recessive) Kinesins 622 1998-09-25 2023-01-20 10749 ENSG00000129250 OTTHUMG00000099451 uc002gan.3 U91329 NM_006612 CCDS11065 O43896 "9685376|24319291|24482476" MGI:1098260 RGD:70928 603060 398212 HGNC:6317 "ENST00000320785.10|NM_006612.6" HGNC:6317 HGNC:40324 KIF1C-AS1 KIF1C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Antisense RNAs 1987 2019-08-15 2019-08-15 102724009 ENSG00000227495 OTTHUMG00000132924 NR_120665 HGNC:40324 -HGNC:6318 KIF2A kinesin family member 2A protein-coding gene gene with protein product Approved 5q12.1 05q12.1 HK2 KIF2 kinesin heavy chain member 2 Kinesins 622 1997-05-09 2006-09-26 2016-06-13 2023-01-20 3796 ENSG00000068796 OTTHUMG00000097755 uc003jsy.5 BC031828 NM_004520 "CCDS93716|CCDS58949|CCDS47216|CCDS3980" O00139 9177777 MGI:108390 RGD:70974 602591 470556 HGNC:6318 "ENST00000407818.8|NM_001098511.3" HGNC:6318 +HGNC:6318 KIF2A kinesin family member 2A protein-coding gene gene with protein product Approved 5q12.1 05q12.1 HK2 KIF2 kinesin heavy chain member 2 Kinesins 622 1997-05-09 2006-09-26 2016-06-13 2023-01-20 3796 ENSG00000068796 OTTHUMG00000097755 uc003jsy.5 BC031828 NM_004520 "CCDS3980|CCDS93716|CCDS58949|CCDS47216" O00139 9177777 MGI:108390 RGD:70974 602591 470556 HGNC:6318 "ENST00000407818.8|NM_001098511.3" HGNC:6318 HGNC:29443 KIF2B kinesin family member 2B protein-coding gene gene with protein product Approved 17q22 17q22 Kinesins 622 2005-02-07 2023-01-20 84643 ENSG00000141200 OTTHUMG00000177756 uc002iua.3 AF333335 NM_032559 CCDS32685 Q8N4N8 "11416179|17538014" MGI:1920720 RGD:1359248 615142 HGNC:29443 "ENST00000268919.6|NM_032559.5" -HGNC:6393 KIF2C kinesin family member 2C protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "MCAK|CT139" KNSL6 kinesin-like 6 (mitotic centromere-associated kinesin) "Kinesins|Small nucleolar RNA protein coding host genes" "622|1835" 1999-09-07 2003-01-17 2003-01-13 2023-01-20 11004 ENSG00000142945 OTTHUMG00000008416 uc001cmg.5 U63743 NM_006845 "CCDS512|CCDS72774" Q99661 9434124 MGI:1921054 RGD:620239 604538 HGNC:6393 "ENST00000372224.9|NM_006845.4" -HGNC:6319 KIF3A kinesin family member 3A protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "FLA10|KLP-20" kinesin family protein 3A Kinesins 622 1999-09-07 2023-01-20 11127 ENSG00000131437 OTTHUMG00000059725 uc003kxo.4 AF041853 NM_007054 "CCDS75295|CCDS75296|CCDS34235" Q9Y496 7515068 MGI:107689 RGD:621536 604683 470558 HGNC:6319 "ENST00000403231.6|NM_001300791.2" +HGNC:6393 KIF2C kinesin family member 2C protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "MCAK|CT139" KNSL6 kinesin-like 6 (mitotic centromere-associated kinesin) "Kinesins|Small nucleolar RNA protein coding host genes" "622|1835" 1999-09-07 2003-01-17 2003-01-13 2023-01-20 11004 ENSG00000142945 OTTHUMG00000008416 uc001cmg.5 U63743 NM_006845 "CCDS72774|CCDS512" Q99661 9434124 MGI:1921054 RGD:620239 604538 HGNC:6393 "ENST00000372224.9|NM_006845.4" +HGNC:6319 KIF3A kinesin family member 3A protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "FLA10|KLP-20" kinesin family protein 3A Kinesins 622 1999-09-07 2023-01-20 11127 ENSG00000131437 OTTHUMG00000059725 uc003kxo.4 AF041853 NM_007054 "CCDS75296|CCDS75295|CCDS34235" Q9Y496 7515068 MGI:107689 RGD:621536 604683 470558 HGNC:6319 "ENST00000403231.6|NM_001300791.2" HGNC:52811 KIF3AP1 kinesin family member 3A pseudogene 1 pseudogene pseudogene Approved 3q29 03q29 2016-12-12 2016-12-12 100419880 ENSG00000235836 OTTHUMG00000155826 NG_025778 PGOHUM00000299707 HGNC:52811 HGNC:6320 KIF3B kinesin family member 3B protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "KIAA0359|FLA8|KLP-11" Kinesins 622 1999-07-06 2023-01-20 9371 ENSG00000101350 OTTHUMG00000032214 uc002wxq.4 AB002357 NM_004798 CCDS13200 O15066 "9205841|32386558" MGI:107688 RGD:1306815 603754 470560 HGNC:6320 "ENST00000375712.4|NM_004798.4" HGNC:6320 HGNC:6321 KIF3C kinesin family member 3C protein-coding gene gene with protein product Approved 2p23.3 02p23.3 Kinesins 622 1997-11-03 2023-01-20 3797 ENSG00000084731 OTTHUMG00000094797 uc002rgu.3 NM_002254 CCDS1719 O14782 9480755 MGI:107979 RGD:621538 602845 HGNC:6321 "ENST00000264712.8|NM_002254.8" @@ -13975,28 +13976,28 @@ HGNC:6323 KIF5A kinesin family member 5A protein-coding gene gene with protein p HGNC:6324 KIF5B kinesin family member 5B protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "KNS|uKHC" ubiquitous kinesin heavy chain KNS1 Kinesins 622 1998-08-24 2023-01-20 3799 ENSG00000170759 OTTHUMG00000017913 uc001iwe.5 X65873 NM_004521 CCDS7171 P33176 "1607388|11553612" MGI:1098268 RGD:621559 KIF5B 602809 HGNC:6324 "ENST00000302418.5|NM_004521.3" HGNC:6325 KIF5C kinesin family member 5C protein-coding gene gene with protein product Approved 2q23.1-q23.2 02q23.1-q23.2 NKHC2 neuron-specific kinesin heavy chain 2 Kinesins 622 1998-08-24 2023-01-20 3800 ENSG00000168280 OTTHUMG00000153779 uc010zbu.3 AB011103 NM_004522 CCDS74586 O60282 "7514426|10964943" MGI:1098269 RGD:1308539 604593 470564 HGNC:6325 "ENST00000435030.6|NM_004522.3" HGNC:6325 HGNC:40325 KIF5C-AS1 KIF5C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q23.1 02q23.1 Antisense RNAs 1987 2019-08-15 2019-08-15 112267889 ENSG00000231079 OTTHUMG00000153737 XR_001739733 HGNC:40325 -HGNC:21202 KIF6 kinesin family member 6 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "dJ1043E3.1|MGC33317|dJ137F1.4|dJ188D3.1|DKFZp451I2418" C6orf102 chromosome 6 open reading frame 102 Kinesins 622 2003-11-26 2023-01-20 221458 ENSG00000164627 OTTHUMG00000014648 uc003oot.3 AL832634 NM_145027 "CCDS4844|CCDS75449|CCDS87392" Q6ZMV9 30475797 MGI:1098238 RGD:621070 613919 HGNC:21202 "ENST00000287152.12|NM_145027.6" +HGNC:21202 KIF6 kinesin family member 6 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "dJ1043E3.1|MGC33317|dJ137F1.4|dJ188D3.1|DKFZp451I2418" C6orf102 chromosome 6 open reading frame 102 Kinesins 622 2003-11-26 2023-01-20 221458 ENSG00000164627 OTTHUMG00000014648 uc003oot.3 AL832634 NM_145027 "CCDS4844|CCDS87392|CCDS75449" Q6ZMV9 30475797 MGI:1098238 RGD:621070 613919 HGNC:21202 "ENST00000287152.12|NM_145027.6" HGNC:30497 KIF7 kinesin family member 7 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 JBTS12 Kinesins 622 2005-02-07 2023-01-20 374654 ENSG00000166813 OTTHUMG00000157177 uc002bof.3 AY358384 NM_198525 CCDS32325 Q2M1P5 "11416179|15547730" MGI:1098239 RGD:1310310 611254 268061 HGNC:30497 "ENST00000394412.8|NM_198525.3" HGNC:30497 -HGNC:16666 KIF9 kinesin family member 9 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC104186 Kinesins 622 2001-09-24 2023-03-15 64147 ENSG00000088727 OTTHUMG00000133512 uc062jch.1 AF311212 NM_001134878 "CCDS2752|CCDS2751|CCDS93262" Q9HAQ2 11483511 MGI:1098237 RGD:1565187 607910 HGNC:16666 "ENST00000684063.1|NM_182902.4" +HGNC:16666 KIF9 kinesin family member 9 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC104186 Kinesins 622 2001-09-24 2023-03-15 64147 ENSG00000088727 OTTHUMG00000133512 uc062jch.1 AF311212 NM_001134878 "CCDS93262|CCDS2752|CCDS2751" Q9HAQ2 11483511 MGI:1098237 RGD:1565187 607910 HGNC:16666 "ENST00000684063.1|NM_182902.4" HGNC:26822 KIF9-AS1 KIF9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 FLJ39534 Antisense RNAs 1987 2012-11-19 2014-11-19 285352 ENSG00000227398 OTTHUMG00000156533 uc003cqw.3 NR_033373 KIF9-AS1 HGNC:26822 HGNC:6388 KIF11 kinesin family member 11 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "Eg5|HKSP|TRIP5" KNSL1 kinesin-like 1 Kinesins 622 1992-07-09 2003-01-10 2003-01-09 2023-01-20 3832 ENSG00000138160 OTTHUMG00000018761 uc001kic.4 X85137 NM_004523 CCDS7422 P52732 "1505978|8548803" MGI:1098231 RGD:621258 148760 292401 objectId:2788 HGNC:6388 "ENST00000260731.5|NM_004523.4" HGNC:6388 HGNC:21495 KIF12 kinesin family member 12 protein-coding gene gene with protein product Approved 9q32 09q32 Kinesins 622 2003-06-18 2023-03-15 113220 ENSG00000136883 OTTHUMG00000020533 uc004bif.3 BC010626 NM_138424 CCDS94465 Q96FN5 15643526 MGI:1098232 RGD:1308487 611278 HGNC:21495 "ENST00000640217.2|NM_001388308.1" HGNC:21495 -HGNC:14566 KIF13A kinesin family member 13A protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "bA500C11.2|RBKIN" Kinesins 622 2001-02-08 2023-01-20 63971 ENSG00000137177 OTTHUMG00000014313 uc003ncg.5 AJ291578 NM_001105566 "CCDS47381|CCDS54968|CCDS58998|CCDS47380|CCDS54967" Q9H1H9 11106728 MGI:1098264 RGD:1307825 605433 470552 HGNC:14566 "ENST00000259711.11|NM_022113.6" +HGNC:14566 KIF13A kinesin family member 13A protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "bA500C11.2|RBKIN" Kinesins 622 2001-02-08 2023-01-20 63971 ENSG00000137177 OTTHUMG00000014313 uc003ncg.5 AJ291578 NM_001105566 "CCDS54968|CCDS47381|CCDS47380|CCDS58998|CCDS54967" Q9H1H9 11106728 MGI:1098264 RGD:1307825 605433 470552 HGNC:14566 "ENST00000259711.11|NM_022113.6" HGNC:14405 KIF13B kinesin family member 13B protein-coding gene gene with protein product Approved 8p12 08p12 "GAKIN|KIAA0639" guanylate kinase associated kinesin Kinesins 622 2001-02-28 2023-01-20 23303 ENSG00000197892 OTTHUMG00000164032 uc003xhh.5 AB014539 NM_015254 CCDS55217 Q9NQT8 "9734811|10859302|16864656" MGI:1098265 RGD:1303307 607350 HGNC:14405 "ENST00000524189.6|NM_015254.4" HGNC:19181 KIF14 kinesin family member 14 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 KIAA0042 Kinesins 622 2002-09-12 2023-01-20 9928 ENSG00000118193 OTTHUMG00000035723 uc010ppk.2 D26361 NM_014875 CCDS30963 Q15058 "7584044|16648480" MGI:1098226 RGD:1310650 611279 444781 HGNC:19181 "ENST00000367350.5|NM_014875.3" HGNC:19181 HGNC:17273 KIF15 kinesin family member 15 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "HKLP2|NY-BR-62" KNSL7 kinesin-like 7 Kinesins 622 2001-12-11 2005-03-17 2005-03-15 2023-01-20 56992 ENSG00000163808 OTTHUMG00000156307 uc003cnx.5 AB035898 NM_020242 CCDS33744 Q9NS87 10878014 MGI:1098258 RGD:727790 617569 HGNC:17273 "ENST00000326047.9|NM_020242.3" -HGNC:15869 KIF16B kinesin family member 16B protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "FLJ20135|dJ971B4.1|SNX23" sorting nexin 23 C20orf23 chromosome 20 open reading frame 23 Kinesins 622 2001-06-21 2008-03-03 2008-03-03 2023-01-20 55614 ENSG00000089177 OTTHUMG00000031927 uc002wpg.3 AK000142 NM_017683 "CCDS82598|CCDS56178|CCDS13122|CCDS93009" Q96L93 "16084724|16782399" MGI:1098240 RGD:1310146 618171 HGNC:15869 "ENST00000354981.7|NM_024704.5" -HGNC:19167 KIF17 kinesin family member 17 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA1405|KIF3X|KIF17B|OSM-3|KLP-2" "kinesin-like protein KIF17|KIF3-related motor protein" Kinesins 622 2002-08-29 2023-01-20 57576 ENSG00000117245 OTTHUMG00000002863 uc001bdr.6 AB037826 NM_020816 "CCDS44079|CCDS72722|CCDS213" Q9P2E2 10846156 MGI:1098229 RGD:1562511 605037 HGNC:19167 "ENST00000400463.8|NM_001122819.3" HGNC:19167 +HGNC:15869 KIF16B kinesin family member 16B protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "FLJ20135|dJ971B4.1|SNX23" sorting nexin 23 C20orf23 chromosome 20 open reading frame 23 Kinesins 622 2001-06-21 2008-03-03 2008-03-03 2023-01-20 55614 ENSG00000089177 OTTHUMG00000031927 uc002wpg.3 AK000142 NM_017683 "CCDS56178|CCDS13122|CCDS82598|CCDS93009" Q96L93 "16084724|16782399" MGI:1098240 RGD:1310146 618171 HGNC:15869 "ENST00000354981.7|NM_024704.5" +HGNC:19167 KIF17 kinesin family member 17 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA1405|KIF3X|KIF17B|OSM-3|KLP-2" "kinesin-like protein KIF17|KIF3-related motor protein" Kinesins 622 2002-08-29 2023-01-20 57576 ENSG00000117245 OTTHUMG00000002863 uc001bdr.6 AB037826 NM_020816 "CCDS213|CCDS44079|CCDS72722" Q9P2E2 10846156 MGI:1098229 RGD:1562511 605037 HGNC:19167 "ENST00000400463.8|NM_001122819.3" HGNC:19167 HGNC:29441 KIF18A kinesin family member 18A protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "DKFZP434G2226|PPP1R99" protein phosphatase 1, regulatory subunit 99 "Kinesins|Protein phosphatase 1 regulatory subunits" "622|694" 2004-08-20 2023-01-20 81930 ENSG00000121621 OTTHUMG00000166195 uc001msc.3 AL136819 NM_031217 CCDS7867 Q8NI77 11230166 MGI:2446977 RGD:1561740 611271 HGNC:29441 "ENST00000263181.7|NM_031217.4" -HGNC:27102 KIF18B kinesin family member 18B protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "Kinesins|MicroRNA protein coding host genes" "622|1691" 2008-03-03 2023-01-20 146909 ENSG00000186185 OTTHUMG00000179867 uc010wjh.4 NM_001080443 "CCDS58555|CCDS45709" Q86Y91 16084724 MGI:2446979 RGD:1310360 614570 HGNC:27102 "ENST00000593135.6|NM_001265577.2" +HGNC:27102 KIF18B kinesin family member 18B protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "Kinesins|MicroRNA protein coding host genes" "622|1691" 2008-03-03 2023-01-20 146909 ENSG00000186185 OTTHUMG00000179867 uc010wjh.4 NM_001080443 "CCDS45709|CCDS58555" Q86Y91 16084724 MGI:2446979 RGD:1310360 614570 HGNC:27102 "ENST00000593135.6|NM_001265577.2" HGNC:55300 KIF18B-DT KIF18B divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Divergent transcripts 1990 2020-10-15 2020-10-15 118827817 ENSG00000267334 HGNC:51808 KIF18BP1 kinesin family member 18B pseudogene 1 pseudogene pseudogene Approved 16p11.1 16p11.1 2015-06-09 2015-06-09 642683 ENSG00000260746 OTTHUMG00000176018 NG_009010 PGOHUM00000293588 HGNC:51808 HGNC:26735 KIF19 kinesin family member 19 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ37300|KIF19A" Kinesins 622 2006-01-16 2023-01-20 124602 ENSG00000196169 OTTHUMG00000150694 uc002jkm.4 AK094619 NM_153209 CCDS32718 Q2TAC6 11416179 MGI:2447024 RGD:1559936 619610 HGNC:26735 "ENST00000389916.5|NM_153209.4" HGNC:55167 KIF19BP kinesin family member 19B, pseudogene pseudogene pseudogene Approved 7p22.3 07p22.3 2020-07-24 2020-07-24 645357 ENSG00000230914 NG_006990 11416179 MGI:3646257 RGD:1598146 HGNC:9787 KIF20A kinesin family member 20A protein-coding gene gene with protein product Approved 5q31.2 05q31.2 MKLP2 mitotic kinesin-like protein 2 RAB6KIFL RAB6 interacting, kinesin-like (rabkinesin6) Kinesins 622 1999-05-17 2003-01-17 2003-01-13 2023-01-20 10112 ENSG00000112984 OTTHUMG00000129195 uc003lcj.4 AF070672 NM_005733 CCDS4199 O95235 "11416179|10806357|30006548" MGI:1201682 RGD:1307695 605664 HGNC:9787 "ENST00000394894.8|NM_005733.3" HGNC:9787 -HGNC:7212 KIF20B kinesin family member 20B protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "MPP1|KRMP1|CT90" cancer/testis antigen 90 MPHOSPH1 M-phase phosphoprotein 1 Kinesins 622 2000-05-12 2008-07-31 2008-07-31 2023-01-20 9585 ENSG00000138182 OTTHUMG00000018725 uc001kgr.3 L16782 NM_016195 "CCDS60590|CCDS7407" Q96Q89 "8885239|8290587|11470801" MGI:2444576 RGD:1308497 605498 470684 HGNC:7212 "ENST00000371728.8|NM_001284259.2" -HGNC:19349 KIF21A kinesin family member 21A protein-coding gene gene with protein product Approved 12q12 12q12 FLJ20052 FEOM1 fibrosis of the extraocular muscles, congenital, 1 "WD repeat domain containing|Kinesins" "362|622" 2002-10-08 2023-01-20 55605 ENSG00000139116 OTTHUMG00000169335 uc001rly.4 AK000059 NM_017641 "CCDS53774|CCDS53776|CCDS31773|CCDS53775" Q7Z4S6 10225949 MGI:109188 RGD:1305126 608283 122847 HGNC:19349 "ENST00000361418.10|NM_001173464.2" HGNC:19349 -HGNC:29442 KIF21B kinesin family member 21B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZP434J212|KIAA0449" "WD repeat domain containing|Kinesins" "362|622" 2004-11-10 2023-01-20 23046 ENSG00000116852 OTTHUMG00000035787 uc001gvs.3 BC031927 NM_001252100 "CCDS58054|CCDS58056|CCDS58055|CCDS30965" O75037 "9455484|10225949" MGI:109234 RGD:1306206 608322 HGNC:29442 "ENST00000461742.7|NM_001252102.2" +HGNC:7212 KIF20B kinesin family member 20B protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "MPP1|KRMP1|CT90" cancer/testis antigen 90 MPHOSPH1 M-phase phosphoprotein 1 Kinesins 622 2000-05-12 2008-07-31 2008-07-31 2023-01-20 9585 ENSG00000138182 OTTHUMG00000018725 uc001kgr.3 L16782 NM_016195 "CCDS7407|CCDS60590" Q96Q89 "8885239|8290587|11470801" MGI:2444576 RGD:1308497 605498 470684 HGNC:7212 "ENST00000371728.8|NM_001284259.2" +HGNC:19349 KIF21A kinesin family member 21A protein-coding gene gene with protein product Approved 12q12 12q12 FLJ20052 FEOM1 fibrosis of the extraocular muscles, congenital, 1 "WD repeat domain containing|Kinesins" "362|622" 2002-10-08 2023-01-20 55605 ENSG00000139116 OTTHUMG00000169335 uc001rly.4 AK000059 NM_017641 "CCDS31773|CCDS53774|CCDS53775|CCDS53776" Q7Z4S6 10225949 MGI:109188 RGD:1305126 608283 122847 HGNC:19349 "ENST00000361418.10|NM_001173464.2" HGNC:19349 +HGNC:29442 KIF21B kinesin family member 21B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZP434J212|KIAA0449" "WD repeat domain containing|Kinesins" "362|622" 2004-11-10 2023-01-20 23046 ENSG00000116852 OTTHUMG00000035787 uc001gvs.3 BC031927 NM_001252100 "CCDS58056|CCDS30965|CCDS58054|CCDS58055" O75037 "9455484|10225949" MGI:109234 RGD:1306206 608322 HGNC:29442 "ENST00000461742.7|NM_001252102.2" HGNC:6391 KIF22 kinesin family member 22 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "Kid|OBP-1|OBP-2" KNSL4 kinesin-like 4 Kinesins 622 1998-05-21 2003-01-10 2003-01-09 2023-01-20 3835 ENSG00000079616 OTTHUMG00000097771 uc002dts.5 D38751 NM_001256269 "CCDS58444|CCDS10653" Q14807 "8599929|11416179" MGI:109233 RGD:1311886 603213 286634 HGNC:6391 "ENST00000160827.9|NM_007317.3" HGNC:6391 HGNC:6392 KIF23 kinesin family member 23 protein-coding gene gene with protein product Approved 15q23 15q23 "MKLP1|MKLP-1" KNSL5 kinesin-like 5 (mitotic kinesin-like protein 1) Kinesins 622 1999-09-07 2003-01-17 2003-01-13 2023-01-20 9493 ENSG00000137807 OTTHUMG00000172062 uc002asb.5 X67155 NM_001281301 "CCDS32278|CCDS92033|CCDS32279" Q02241 1406973 MGI:1919069 RGD:1308596 LRG_1173|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1173.xml 605064 357756 HGNC:6392 "ENST00000679126.1|NM_001367805.3" HGNC:6392 HGNC:27075 KIF23-AS1 KIF23 and PAQR5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 Antisense RNAs 1987 2021-01-07 2021-01-07 145694 ENSG00000259426 NR_132969 @@ -14007,14 +14008,14 @@ HGNC:20226 KIF26A kinesin family member 26A protein-coding gene gene with protei HGNC:55439 KIF26A-DT KIF26A divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 Divergent transcripts 1990 2021-01-14 2021-01-14 105370708 ENSG00000258748 NR_158217 HGNC:25484 KIF26B kinesin family member 26B protein-coding gene gene with protein product Approved 1q44 01q44 FLJ10157 Kinesins 622 2006-07-04 2023-01-20 55083 ENSG00000162849 OTTHUMG00000040079 uc001ibf.1 AK001019 NM_018012 CCDS44342 Q2KJY2 MGI:2447076 RGD:1560022 614026 HGNC:25484 "ENST00000407071.7|NM_018012.4" HGNC:41098 KIF26B-AS1 KIF26B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q44 01q44 RP11-62I21.1 Antisense RNAs 1987 2017-09-28 2017-09-28 2017-09-28 2017-09-28 111216275 ENSG00000232192 OTTHUMG00000040077 NR_151721 28942040 HGNC:41098 -HGNC:18632 KIF27 kinesin family member 27 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 DKFZp434D0917 Kinesins 622 2003-04-16 2023-01-20 55582 ENSG00000165115 OTTHUMG00000020109 uc004ana.6 AY237536 NM_017576 "CCDS65071|CCDS6665|CCDS65072" Q86VH2 MGI:1922300 RGD:621071 611253 HGNC:18632 "ENST00000297814.7|NM_017576.4" +HGNC:18632 KIF27 kinesin family member 27 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 DKFZp434D0917 Kinesins 622 2003-04-16 2023-01-20 55582 ENSG00000165115 OTTHUMG00000020109 uc004ana.6 AY237536 NM_017576 "CCDS6665|CCDS65071|CCDS65072" Q86VH2 MGI:1922300 RGD:621071 611253 HGNC:18632 "ENST00000297814.7|NM_017576.4" HGNC:49205 KIF28P kinesin family member 28, pseudogene pseudogene pseudogene Approved 1q44 01q44 KLP-6 Kinesins 622 2013-10-08 2016-09-27 100130097 ENSG00000223519 OTTHUMG00000153447 NG_050633 B7ZC32 16084724 MGI:2686151 RGD:1559696 HGNC:49205 -HGNC:17060 KIFAP3 kinesin associated protein 3 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "SMAP|KAP3|FLA3|KAP-1" Smg GDS kinesin-associated protein 3 Armadillo like helical domain containing 1492 2001-11-21 2016-01-21 2023-01-20 22920 ENSG00000075945 OTTHUMG00000035947 uc001ggv.4 U59919 NM_014970 "CCDS55661|CCDS55660|CCDS1288|CCDS55659" Q92845 8900189 MGI:107566 RGD:1305191 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 601836 470566 HGNC:17060 "ENST00000361580.7|NM_014970.4" +HGNC:17060 KIFAP3 kinesin associated protein 3 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "SMAP|KAP3|FLA3|KAP-1" Smg GDS kinesin-associated protein 3 Armadillo like helical domain containing 1492 2001-11-21 2016-01-21 2023-01-20 22920 ENSG00000075945 OTTHUMG00000035947 uc001ggv.4 U59919 NM_014970 "CCDS1288|CCDS55659|CCDS55660|CCDS55661" Q92845 8900189 MGI:107566 RGD:1305191 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 601836 470566 HGNC:17060 "ENST00000361580.7|NM_014970.4" HGNC:40788 KIFAP3-AS1 KIFAP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q24.2 01q24.2 Antisense RNAs 1987 2023-02-03 2023-02-03 128667227 ENSG00000232959 OTTHUMG00000035956 33912555 HGNC:23419 KIFBP kinesin family binding protein protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "DKFZP586B0923|TTC20|KBP" kinesin binding protein "KIAA1279|KIF1BP" "KIAA1279|KIF1 binding protein" Tetratricopeptide repeat domain containing 769 2003-11-21 2019-07-16 2019-07-16 2023-01-20 26128 ENSG00000198954 OTTHUMG00000018363 BC012180 NM_015634 CCDS7284 Q96EK5 "15883926|16225668" MGI:1919570 RGD:1593126 609367 122834 HGNC:23419 "ENST00000361983.7|NM_015634.4" HGNC:23419 HGNC:6389 KIFC1 kinesin family member C1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HSET KNSL2 kinesin-like 2 Kinesins 622 1993-06-25 2003-01-10 2003-01-09 2023-01-20 3833 ENSG00000237649 OTTHUMG00000031209 uc063yhh.1 D14678 NM_002263 CCDS34430 Q9BW19 8276466 MGI:2137414 RGD:1359118 603763 HGNC:6389 "ENST00000428849.7|NM_002263.4" -HGNC:29530 KIFC2 kinesin family member C2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 Kinesins 622 2004-01-26 2023-01-20 90990 ENSG00000167702 OTTHUMG00000165133 uc003zcz.4 AY007121 NM_145754 "CCDS94366|CCDS6427" Q96AC6 9115737 MGI:109187 RGD:735021 615216 HGNC:29530 "ENST00000645548.2|NM_001369769.2" -HGNC:6326 KIFC3 kinesin family member C3 protein-coding gene gene with protein product Approved 16q21 16q21 "Kinesins|MicroRNA protein coding host genes" "622|1691" 1998-04-08 2023-01-20 3801 ENSG00000140859 OTTHUMG00000133455 uc002emp.4 BC001211 NM_005550 "CCDS45493|CCDS81987|CCDS81988|CCDS10789|CCDS45494|CCDS81989" Q9BVG8 9782090 MGI:109202 RGD:1307693 604535 HGNC:6326 "ENST00000445690.7|NM_001130100.2" +HGNC:29530 KIFC2 kinesin family member C2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 Kinesins 622 2004-01-26 2023-01-20 90990 ENSG00000167702 OTTHUMG00000165133 uc003zcz.4 AY007121 NM_145754 "CCDS6427|CCDS94366" Q96AC6 9115737 MGI:109187 RGD:735021 615216 HGNC:29530 "ENST00000645548.2|NM_001369769.2" +HGNC:6326 KIFC3 kinesin family member C3 protein-coding gene gene with protein product Approved 16q21 16q21 "Kinesins|MicroRNA protein coding host genes" "622|1691" 1998-04-08 2023-01-20 3801 ENSG00000140859 OTTHUMG00000133455 uc002emp.4 BC001211 NM_005550 "CCDS81987|CCDS10789|CCDS45494|CCDS45493|CCDS81988|CCDS81989" Q9BVG8 9782090 MGI:109202 RGD:1307693 604535 HGNC:6326 "ENST00000445690.7|NM_001130100.2" HGNC:56729 KILH KRT19 interacting long noncoding RNA in hepatocellular carcinoma non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 linc-KILH Long non-coding RNAs with non-systematic symbols 1992 2023-01-27 2023-01-27 101927136 ENSG00000231683 NR_110840 33767587 HGNC:6327 KIN Kin17 DNA and RNA binding protein protein-coding gene gene with protein product Approved 10p14 10p14 "KIN17|Rts2" "antigenic determinant of recA protein (mouse) homolog|KIN, antigenic determinant of recA protein homolog (mouse)" 1999-10-14 2014-07-15 2023-01-20 22944 ENSG00000151657 OTTHUMG00000017634 uc001ijt.4 AJ005273 NM_012311 CCDS7080 O60870 "1923796|24140279" MGI:96676 RGD:1596107 601720 HGNC:6327 "ENST00000379562.9|NM_012311.4" HGNC:6329 KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "cl-42|nkat1|47.11|p58.1|CD158A" killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2023-01-20 3802 ENSG00000125498 OTTHUMG00000065885 uc002qhb.2 L41267 NM_014218 CCDS12904 P43626 "7749980|7716543" "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604936 CD158A HGNC:6329 "ENST00000336077.11|NM_014218.3" @@ -14030,58 +14031,58 @@ HGNC:6335 KIR2DS3 killer cell immunoglobulin like receptor, two Ig domains and s HGNC:6336 KIR2DS4 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "cl-39|KKA3|nkat8|CD158I" killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2023-03-15 3809 ENSG00000221957 OTTHUMG00000065932 uc061ctl.1 L76671 NM_012314 P43632 "8765026|7749980|28734803" "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604955 CD158i HGNC:6336 HGNC:6337 KIR2DS5 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus "nkat9|CD158G" killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2016-01-20 3810 uc061fdr.1 "L76672|GL949747" NM_014513 Q14953 8662091 "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604956 CD158G HGNC:6338 KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "cl-2|NKB1|cl-11|nkat3|NKB1B|AMB11|CD158e1/2|CD158E1|CD158e2" KIR killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1995-12-20 2016-01-20 2023-01-20 3811 ENSG00000167633 OTTHUMG00000065933 uc002qhk.5 L41269 NM_013289 CCDS42621 P43629 "7716543|7749980" "MGI:2652397|MGI:3612791" RGD:727836 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604946 CD158e1/2 HGNC:6338 -HGNC:6339 KIR3DL2 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "cl-5|nkat4|nkat4a|nkat4b|CD158K" killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2023-01-20 3812 ENSG00000240403 OTTHUMG00000065935 uc002qho.5 L41270 NM_001242867 "CCDS58677|CCDS12906" P43630 "7716543|8662091" "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604947 objectId:3067 CD158k HGNC:6339 "ENST00000326321.7|NM_006737.4" +HGNC:6339 KIR3DL2 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "cl-5|nkat4|nkat4a|nkat4b|CD158K" killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2023-01-20 3812 ENSG00000240403 OTTHUMG00000065935 uc002qho.5 L41270 NM_001242867 "CCDS12906|CCDS58677" P43630 "7716543|8662091" "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604947 objectId:3067 CD158k HGNC:6339 "ENST00000326321.7|NM_006737.4" HGNC:16312 KIR3DL3 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "KIRC1|KIR3DL7|KIR44|CD158Z" killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 2004-01-29 2016-01-20 2023-01-20 115653 ENSG00000242019 OTTHUMG00000065884 uc032ieo.2 AF352324 NM_153443 CCDS12903 Q8N743 11513144 "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 610095 CD158z HGNC:16312 "ENST00000291860.2|NM_153443.5" HGNC:16343 KIR3DP1 killer cell immunoglobulin like receptor, three Ig domains pseudogene 1 pseudogene pseudogene Approved 19q13.42 19q13.42 "KIRX|KIR48|KIR2DS6|KIR3DS2P|CD158C" killer cell immunoglobulin-like receptor, three domains, pseudogene 1 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 2005-06-06 2016-01-20 2016-11-09 548594 ENSG00000264257 OTTHUMG00000178663 uc032lyq.2 AF204919 NG_033792 "15580659|15194195" "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 610604 PGOHUM00000263016 CD158C HGNC:16343 HGNC:6340 KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus nkat10 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 Killer cell immunoglobulin like receptors 620 1997-11-14 2016-01-20 2018-11-13 3813 ENSG00000275434 OTTHUMG00000151668 uc061evc.1 "L76661|GL949747" NM_001083539 Q14943 8662091 "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ HGNC:25043 KIR3DX1 killer cell immunoglobulin like receptor, three Ig domains X1 (pseudogene) pseudogene pseudogene Approved 19q13.42 19q13.42 FLJ00060 LENG12 "leukocyte receptor cluster (LRC) member 12|killer cell immunoglobulin-like receptor, three domains, X1|killer cell immunoglobulin like receptor, three Ig domains X1" Killer cell immunoglobulin like receptors 620 2006-03-24 2006-09-12 2019-03-06 2023-03-15 90011 ENSG00000104970 OTTHUMG00000065696 uc010erm.4 BC033195 NR_026716 Q9H7L2 11441184 HGNC:25043 -HGNC:15734 KIRREL1 kirre like nephrin family adhesion molecule 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 NEPH1 nephrin-like protein 1 KIRREL kin of IRRE like (Drosophila) "C2-set domain containing|I-set domain containing" "592|593" 2002-01-22 2017-06-08 2017-06-08 2023-01-20 55243 ENSG00000183853 OTTHUMG00000022438 uc001frn.6 AK001707 NM_018240 "CCDS1172|CCDS72952" Q96J84 12424224 MGI:1891396 RGD:727883 607428 HGNC:15734 "ENST00000359209.11|NM_018240.7" +HGNC:15734 KIRREL1 kirre like nephrin family adhesion molecule 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 NEPH1 nephrin-like protein 1 KIRREL kin of IRRE like (Drosophila) "C2-set domain containing|I-set domain containing" "592|593" 2002-01-22 2017-06-08 2017-06-08 2023-01-20 55243 ENSG00000183853 OTTHUMG00000022438 uc001frn.6 AK001707 NM_018240 "CCDS72952|CCDS1172" Q96J84 12424224 MGI:1891396 RGD:727883 607428 HGNC:15734 "ENST00000359209.11|NM_018240.7" HGNC:41412 KIRREL1-IT1 KIRREL1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q23.1 01q23.1 KIRREL-IT1 "KIRREL intronic transcript 1 (non-protein coding)|KIRREL intronic transcript 1" Intronic transcripts 1989 2011-05-23 2017-06-08 2017-06-08 2020-01-31 100505785 ENSG00000226520 OTTHUMG00000035615 uc057mff.1 NR_145471 KIRREL-IT1 HGNC:41412 -HGNC:18816 KIRREL2 kirre like nephrin family adhesion molecule 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "NLG1|NEPH3|FILTRIN|DKFZp564A1164|MGC15718" kin of IRRE like 2 (Drosophila) "C2-set domain containing|I-set domain containing" "592|593" 2002-07-01 2017-06-08 2023-01-20 84063 ENSG00000126259 OTTHUMG00000180691 uc002ocb.5 AL136654 NM_032123 "CCDS86753|CCDS12480|CCDS12479|CCDS12481" Q6UWL6 "12837264|12504092" MGI:2442334 RGD:1308456 607762 HGNC:18816 "ENST00000360202.10|NM_199180.4" -HGNC:23204 KIRREL3 kirre like nephrin family adhesion molecule 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "NEPH2|KIAA1867|KIRRE" kin of IRRE like 3 (Drosophila) "C2-set domain containing|I-set domain containing|MicroRNA protein coding host genes" "592|593|1691" 2003-10-09 2017-06-08 2023-01-20 84623 ENSG00000149571 OTTHUMG00000165831 uc001qea.4 AB058770 NM_032531 "CCDS55796|CCDS53723|CCDS73413" Q8IZU9 "12424224|11347906" MGI:1914953 RGD:1311382 607761 199900 HGNC:23204 "ENST00000525144.7|NM_032531.4" HGNC:23204 +HGNC:18816 KIRREL2 kirre like nephrin family adhesion molecule 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "NLG1|NEPH3|FILTRIN|DKFZp564A1164|MGC15718" kin of IRRE like 2 (Drosophila) "C2-set domain containing|I-set domain containing" "592|593" 2002-07-01 2017-06-08 2023-01-20 84063 ENSG00000126259 OTTHUMG00000180691 uc002ocb.5 AL136654 NM_032123 "CCDS12480|CCDS12481|CCDS86753|CCDS12479" Q6UWL6 "12837264|12504092" MGI:2442334 RGD:1308456 607762 HGNC:18816 "ENST00000360202.10|NM_199180.4" +HGNC:23204 KIRREL3 kirre like nephrin family adhesion molecule 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "NEPH2|KIAA1867|KIRRE" kin of IRRE like 3 (Drosophila) "C2-set domain containing|I-set domain containing|MicroRNA protein coding host genes" "592|593|1691" 2003-10-09 2017-06-08 2023-01-20 84623 ENSG00000149571 OTTHUMG00000165831 uc001qea.4 AB058770 NM_032531 "CCDS73413|CCDS53723|CCDS55796" Q8IZU9 "12424224|11347906" MGI:1914953 RGD:1311382 607761 199900 HGNC:23204 "ENST00000525144.7|NM_032531.4" HGNC:23204 HGNC:42655 KIRREL3-AS1 KIRREL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 KIRREL3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-11 2012-08-15 2014-11-19 100874250 ENSG00000257271 OTTHUMG00000169624 uc058izx.1 NR_174952 KIRREL3-AS1 HGNC:42656 KIRREL3-AS2 KIRREL3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 KIRREL3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-08-11 2012-08-15 2014-11-19 100874251 ENSG00000254960 OTTHUMG00000165803 uc001qee.3 NR_046986 KIRREL3-AS2 HGNC:42656 HGNC:26855 KIRREL3-AS3 KIRREL3 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 FLJ40224 "PRR10|NCRNA00288" "proline rich 10|non-protein coding RNA 288|KIRREL3 antisense RNA 3 (non-protein coding)" Antisense RNAs 1987 2005-10-03 2011-08-11 2012-08-15 2012-10-12 283165 ENSG00000218109 OTTHUMG00000165805 uc001qef.1 AK097543 NR_040078 Q8N7Y1 KIRREL3-AS3 HGNC:26855 HGNC:6341 KISS1 KiSS-1 metastasis suppressor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "prepro-kisspeptin|kisspeptin" Neuropeptides 1902 1998-05-18 2018-01-05 2023-01-20 3814 ENSG00000170498 OTTHUMG00000036060 uc001har.4 U43527 NM_002256 CCDS41454 Q15726 "9192814|9806840" MGI:2663985 RGD:727850 603286 292693 ligandId:1288 HGNC:6341 "ENST00000367194.5|NM_002256.4" HGNC:6341 HGNC:4510 KISS1R KISS1 receptor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HOT7T175|AXOR12" GPR54 G protein-coupled receptor 54 Peptide receptors 220 1999-03-12 2006-02-15 2006-02-15 2023-01-20 84634 ENSG00000116014 OTTHUMG00000181900 uc002lqk.4 AB051065 NM_032551 CCDS12049 Q969F8 10100623 MGI:2148793 RGD:70930 604161 122857 objectId:266 HGNC:4510 "ENST00000234371.10|NM_032551.5" HGNC:4510 -HGNC:6342 KIT KIT proto-oncogene, receptor tyrosine kinase protein-coding gene gene with protein product Approved 4q12 04q12 "CD117|SCFR|C-Kit" mast/stem cell growth factor receptor Kit PBT "piebald trait|v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog" "Receptor tyrosine kinases|CD molecules|Immunoglobulin like domain containing" "321|471|594" 1986-01-01 2019-01-22 2023-01-20 3815 ENSG00000157404 OTTHUMG00000128713 uc010igr.4 S67773 NM_000222 "CCDS93530|CCDS93532|CCDS93529|CCDS93531|CCDS93527|CCDS3496|CCDS93528|CCDS47058" P10721 9027509 MGI:96677 RGD:620568 LRG_307|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_307.xml KIT 164920 122862 objectId:1805 CD117 HGNC:6342 "ENST00000288135.6|NM_000222.3" HGNC:6342 -HGNC:6343 KITLG KIT ligand protein-coding gene gene with protein product Approved 12q21.32 12q21.32 "SCF|SF|Kitl|KL-1|FPH2|SLF|DFNA69" "mast cell growth factor|stem cell factor|steel factor|familial progressive hyperpigmentation 2" MGF 1991-06-04 2023-01-20 4254 ENSG00000049130 OTTHUMG00000169888 uc001tav.4 M59964 NM_003994 "CCDS31868|CCDS31867" P21583 "2208279|1707188|19375057|26522471" MGI:96974 RGD:3086 LRG_1379|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1379.xml 184745 201509 ligandId:5055 HGNC:6343 "ENST00000644744.1|NM_000899.5" HGNC:6343 -HGNC:15865 KIZ kizuna centrosomal protein protein-coding gene gene with protein product Approved 20p11.23 20p11.23 HT013 "NCRNA00153|C20orf19|PLK1S1" "non-protein coding RNA 153|chromosome 20 open reading frame 19|polo-like kinase 1 substrate 1" 2001-06-21 2014-02-17 2014-02-17 2023-01-20 55857 ENSG00000088970 OTTHUMG00000032020 AF220187 NM_018474 "CCDS74706|CCDS74705|CCDS74707|CCDS74708" Q2M2Z5 16980960 MGI:2684960 RGD:1307071 615757 400687 HGNC:15865 "ENST00000619189.5|NM_018474.6" HGNC:15865 +HGNC:6342 KIT KIT proto-oncogene, receptor tyrosine kinase protein-coding gene gene with protein product Approved 4q12 04q12 "CD117|SCFR|C-Kit" mast/stem cell growth factor receptor Kit PBT "piebald trait|v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog" "Receptor tyrosine kinases|CD molecules|Immunoglobulin like domain containing" "321|471|594" 1986-01-01 2019-01-22 2023-01-20 3815 ENSG00000157404 OTTHUMG00000128713 uc010igr.4 S67773 NM_000222 "CCDS93529|CCDS3496|CCDS93527|CCDS47058|CCDS93532|CCDS93528|CCDS93530|CCDS93531" P10721 9027509 MGI:96677 RGD:620568 LRG_307|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_307.xml KIT 164920 122862 objectId:1805 CD117 HGNC:6342 "ENST00000288135.6|NM_000222.3" HGNC:6342 +HGNC:6343 KITLG KIT ligand protein-coding gene gene with protein product Approved 12q21.32 12q21.32 "SCF|SF|Kitl|KL-1|FPH2|SLF|DFNA69" "mast cell growth factor|stem cell factor|steel factor|familial progressive hyperpigmentation 2" MGF 1991-06-04 2023-01-20 4254 ENSG00000049130 OTTHUMG00000169888 uc001tav.4 M59964 NM_003994 "CCDS31867|CCDS31868" P21583 "2208279|1707188|19375057|26522471" MGI:96974 RGD:3086 LRG_1379|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1379.xml 184745 201509 ligandId:5055 HGNC:6343 "ENST00000644744.1|NM_000899.5" HGNC:6343 +HGNC:15865 KIZ kizuna centrosomal protein protein-coding gene gene with protein product Approved 20p11.23 20p11.23 HT013 "NCRNA00153|C20orf19|PLK1S1" "non-protein coding RNA 153|chromosome 20 open reading frame 19|polo-like kinase 1 substrate 1" 2001-06-21 2014-02-17 2014-02-17 2023-01-20 55857 ENSG00000088970 OTTHUMG00000032020 AF220187 NM_018474 "CCDS74708|CCDS74707|CCDS74705|CCDS74706" Q2M2Z5 16980960 MGI:2684960 RGD:1307071 615757 400687 HGNC:15865 "ENST00000619189.5|NM_018474.6" HGNC:15865 HGNC:51231 KIZ-AS1 KIZ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 Antisense RNAs 1987 2014-08-08 2014-08-08 101929591 ENSG00000232712 OTTHUMG00000032018 BC034426 NR_109956 KIZ-AS1 HGNC:51231 HGNC:6344 KL klotho protein-coding gene gene with protein product Approved 13q13.1 13q13.1 KLA alpha-klotho Glycoside hydrolase family 1 1652 1999-03-24 2023-01-20 9365 ENSG00000133116 OTTHUMG00000017408 uc001uus.3 AB005142 NM_004795 CCDS9347 Q9UEF7 9464267 MGI:1101771 RGD:620396 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=KL 604824 179419 objectId:3146 HGNC:6344 "ENST00000380099.4|NM_004795.4" HGNC:6344 HGNC:15527 KLB klotho beta protein-coding gene gene with protein product Approved 4p14 04p14 b-Klotho "Glycoside hydrolase family 1|MicroRNA protein coding host genes" "1652|1691" 2005-10-10 2023-01-20 152831 ENSG00000134962 OTTHUMG00000128577 uc003gua.4 AB079373 NM_175737 CCDS3451 Q86Z14 MGI:1932466 RGD:1308227 611135 HGNC:15527 "ENST00000257408.5|NM_175737.4" -HGNC:6387 KLC1 kinesin light chain 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "KNS2A|KLC|hKLC1S|hKLC1N|hKLC1P|hKLC1G|hKLC1R|hKLC1J|hKLC1B" KNS2 "kinesin 2 60/70kDa|kinesin 2" Tetratricopeptide repeat domain containing 769 1994-07-07 2007-03-09 2007-03-09 2023-01-20 3831 ENSG00000126214 OTTHUMG00000169227 uc059fsm.1 AF267530 NM_005552 "CCDS91945|CCDS91950|CCDS91949|CCDS91947|CCDS91948|CCDS91951|CCDS91953|CCDS45168|CCDS91952|CCDS41996|CCDS32165|CCDS91946" Q07866 "8274221|11106729" MGI:107978 RGD:621411 600025 HGNC:6387 "ENST00000334553.11|NM_001394837.1" +HGNC:6387 KLC1 kinesin light chain 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "KNS2A|KLC|hKLC1S|hKLC1N|hKLC1P|hKLC1G|hKLC1R|hKLC1J|hKLC1B" KNS2 "kinesin 2 60/70kDa|kinesin 2" Tetratricopeptide repeat domain containing 769 1994-07-07 2007-03-09 2007-03-09 2023-01-20 3831 ENSG00000126214 OTTHUMG00000169227 uc059fsm.1 AF267530 NM_005552 "CCDS45168|CCDS91945|CCDS91950|CCDS41996|CCDS91951|CCDS91952|CCDS91949|CCDS91953|CCDS91947|CCDS91946|CCDS91948|CCDS32165" Q07866 "8274221|11106729" MGI:107978 RGD:621411 600025 HGNC:6387 "ENST00000334553.11|NM_001394837.1" HGNC:56065 KLC1-AS1 KLC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 Antisense RNAs 1987 2021-12-10 2021-12-10 123706534 ENSG00000246451 -HGNC:20716 KLC2 kinesin light chain 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ12387 Tetratricopeptide repeat domain containing 769 2005-09-13 2023-01-20 64837 ENSG00000174996 OTTHUMG00000133757 uc010rov.2 AK022449 NM_022822 "CCDS8130|CCDS44653" Q9H0B6 9624122 MGI:107953 RGD:1307377 611729 450291 HGNC:20716 "ENST00000394067.7|NM_001318734.2" HGNC:20716 -HGNC:40934 KLC2-AS1 KLC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Antisense RNAs 1987 2021-03-17 2021-03-17 105369352 ENSG00000254855 OTTHUMG00000166905 +HGNC:20716 KLC2 kinesin light chain 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ12387 Tetratricopeptide repeat domain containing 769 2005-09-13 2023-01-20 64837 ENSG00000174996 OTTHUMG00000133757 uc010rov.2 AK022449 NM_022822 "CCDS44653|CCDS8130" Q9H0B6 9624122 MGI:107953 RGD:1307377 611729 450291 HGNC:20716 "ENST00000394067.7|NM_001318734.2" HGNC:20716 +HGNC:40934 KLC2-AS1 KLC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Antisense RNAs 1987 2021-03-17 2021-03-17 105369352 ENSG00000254855 OTTHUMG00000166905 NR_186327 HGNC:55515 KLC2-AS2 KLC2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Antisense RNAs 1987 2021-03-17 2021-03-17 2021-03-17 2021-03-17 105369351 ENSG00000254762 HGNC:20717 KLC3 kinesin light chain 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "KLC2L|KNS2B|KLCt" Tetratricopeptide repeat domain containing 769 2005-09-13 2023-01-20 147700 ENSG00000104892 OTTHUMG00000143722 uc002pbf.2 AK092481 NM_145275 CCDS12660 Q6P597 MGI:1277971 RGD:621432 601334 HGNC:20717 "ENST00000391946.7|NM_177417.3" -HGNC:21624 KLC4 kinesin light chain 4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 bA387M24.3 KNSL8 kinesin-like 8 Tetratricopeptide repeat domain containing 769 2003-06-27 2005-09-13 2005-09-13 2023-01-20 89953 ENSG00000137171 OTTHUMG00000014720 uc003otw.3 AK055293 NM_138343 "CCDS4883|CCDS75459|CCDS4882|CCDS47429" Q9NSK0 MGI:1922014 RGD:1306555 HGNC:21624 "ENST00000347162.10|NM_201521.3" +HGNC:21624 KLC4 kinesin light chain 4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 bA387M24.3 KNSL8 kinesin-like 8 Tetratricopeptide repeat domain containing 769 2003-06-27 2005-09-13 2005-09-13 2023-01-20 89953 ENSG00000137171 OTTHUMG00000014720 uc003otw.3 AK055293 NM_138343 "CCDS47429|CCDS75459|CCDS4882|CCDS4883" Q9NSK0 MGI:1922014 RGD:1306555 HGNC:21624 "ENST00000347162.10|NM_201521.3" HGNC:55228 KLC4-AS1 KLC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 Antisense RNAs 1987 2020-09-16 2020-09-16 112267958 ENSG00000272170 XR_002956347 HGNC:6345 KLF1 KLF transcription factor 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 EKLF erythroid Kruppel-like factor "Kruppel-like factor 1 (erythroid)|Kruppel like factor 1" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 1999-12-14 2022-07-04 2023-01-20 10661 ENSG00000105610 OTTHUMG00000180536 uc002mvo.4 U37106 NM_006563 CCDS12285 Q13351 "8924208|9119377" MGI:1342771 RGD:1309398 LRG_825|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_825.xml 600599 240663 HGNC:6345 "ENST00000264834.6|NM_006563.5" HGNC:6345 HGNC:6347 KLF2 KLF transcription factor 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 LKLF lung Kruppel-like factor "Kruppel-like factor 2 (lung)|Kruppel like factor 2" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 1999-12-14 2022-07-04 2023-04-20 10365 ENSG00000127528 OTTHUMG00000182330 uc002ndw.4 AF123344 NM_016270 CCDS12343 Q9Y5W3 "10217429|10458913|32079517" MGI:1342772 RGD:1359220 602016 470568 HGNC:6347 "ENST00000248071.6|NM_016270.4" HGNC:6347 -HGNC:55304 KLF2-DT KLF2 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 Divergent transcripts 1990 2020-10-15 2020-10-15 118827812 ENSG00000267275 +HGNC:55304 KLF2-DT KLF2 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 Divergent transcripts 1990 2020-10-15 2020-10-15 118827812 ENSG00000267275 NR_186323 HGNC:49280 KLF2P1 Kruppel like factor 2 pseudogene 1 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2016-06-03 2016-06-03 106480253 ENSG00000231240 OTTHUMG00000153624 NG_043904 PGOHUM00000240908 HGNC:49280 HGNC:49281 KLF2P2 Kruppel like factor 2 pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2016-06-03 2016-06-03 106480678 ENSG00000230646 OTTHUMG00000153926 NG_045031 PGOHUM00000240932 HGNC:49281 HGNC:49282 KLF2P3 Kruppel like factor 2 pseudogene 3 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2016-06-03 2016-06-03 106481672 ENSG00000223349 OTTHUMG00000154048 NG_042968 PGOHUM00000240305 HGNC:49282 HGNC:49283 KLF2P4 Kruppel like factor 2 pseudogene 4 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2016-06-03 2016-06-03 100533668 ENSG00000236516 OTTHUMG00000153557 NG_028774 PGOHUM00000240310 HGNC:49283 HGNC:16516 KLF3 KLF transcription factor 3 protein-coding gene gene with protein product Approved 4p14 04p14 BKLF basic Kruppel-like factor "Kruppel-like factor 3 (basic)|Kruppel like factor 3" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 2001-09-13 2022-07-04 2023-01-20 51274 ENSG00000109787 OTTHUMG00000097821 uc003gth.5 AF285837 NM_016531 CCDS3444 P57682 18391014 MGI:1342773 RGD:1593290 609392 HGNC:16516 "ENST00000261438.10|NM_016531.6" HGNC:25796 KLF3-AS1 KLF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p14 04p14 FLJ13197 Antisense RNAs 1987 2014-03-20 2014-03-20 79667 ENSG00000231160 OTTHUMG00000160386 NR_026804 KLF3-AS1 HGNC:25796 -HGNC:41518 KLF3P1 Kruppel like factor 3 pseudogene 1 pseudogene pseudogene Approved 5q35.1 05q35.1 Kruppel-like factor 3 (basic) pseudogene 1 2011-05-03 2016-06-03 2016-06-03 651815 ENSG00000253218 OTTHUMG00000163278 NG_006658 PGOHUM00000235453 HGNC:41518 -HGNC:41519 KLF3P2 Kruppel like factor 3 pseudogene 2 pseudogene pseudogene Approved 3q25.31 03q25.31 Kruppel-like factor 3 (basic) pseudogene 2 2011-05-03 2016-06-03 2016-06-03 100124394 ENSG00000241879 OTTHUMG00000158649 NG_006657 PGOHUM00000238242 HGNC:41519 +HGNC:41518 KLF3P1 KLF3 pseudogene 1 pseudogene pseudogene Approved 5q35.1 05q35.1 "Kruppel-like factor 3 (basic) pseudogene 1|Kruppel like factor 3 pseudogene 1" 2011-05-03 2023-06-16 2023-06-16 651815 ENSG00000253218 OTTHUMG00000163278 NG_006658 PGOHUM00000235453 HGNC:41518 +HGNC:41519 KLF3P2 KLF3 pseudogene 2 pseudogene pseudogene Approved 3q25.31 03q25.31 "Kruppel-like factor 3 (basic) pseudogene 2|Kruppel like factor 3 pseudogene 2" 2011-05-03 2023-06-16 2023-06-16 100124394 ENSG00000241879 OTTHUMG00000158649 NG_006657 PGOHUM00000238242 HGNC:41519 HGNC:6348 KLF4 KLF transcription factor 4 protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "EZF|GKLF" gut Kruppel-like factor "Kruppel-like factor 4 (gut)|Kruppel like factor 4" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 1999-12-14 2022-07-04 2023-01-20 9314 ENSG00000136826 OTTHUMG00000020449 uc004bdg.4 AF022184 NM_004235 CCDS6770 O43474 "9422764|16372018" MGI:1342287 RGD:621445 KLF4 602253 HGNC:6348 "ENST00000374672.5|NM_004235.6" -HGNC:49738 KLF4P1 Kruppel like factor 4 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 Kruppel-like factor 4 (gut) pseudogene 1 2014-02-13 2016-06-03 2016-06-03 100420113 ENSG00000233186 OTTHUMG00000019473 NG_023778 PGOHUM00000260450 HGNC:49738 -HGNC:6349 KLF5 KLF transcription factor 5 protein-coding gene gene with protein product Approved 13q22.1 13q22.1 "IKLF|CKLF" intestinal Kruppel-like factor BTEB2 "Kruppel-like factor 5 (intestinal)|Kruppel like factor 5" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 2000-03-06 2022-07-04 2023-01-20 688 ENSG00000102554 OTTHUMG00000017074 uc001vje.4 D14520 NM_001286818 "CCDS66562|CCDS9448" Q13887 "8479902|9973612" MGI:1338056 RGD:621446 602903 HGNC:6349 "ENST00000377687.6|NM_001730.5" -HGNC:2235 KLF6 KLF transcription factor 6 protein-coding gene gene with protein product Approved 10p15.2 10p15.2 "CPBP|GBF|Zf9|PAC1" GC-rich binding factor "BCD1|ST12|COPEB" "core promoter element binding protein|Kruppel like factor 6" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 1997-10-16 2004-12-01 2022-07-04 2023-01-20 1316 ENSG00000067082 OTTHUMG00000017567 uc001iha.4 U51869 NM_001160124 "CCDS7060|CCDS53490" Q99612 "9503030|9685731" MGI:1346318 RGD:62389 KLF6 602053 HGNC:2235 "ENST00000497571.6|NM_001300.6" -HGNC:6350 KLF7 KLF transcription factor 7 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 UKLF ubiquitous Kruppel-like factor "Kruppel-like factor 7 (ubiquitous)|Kruppel like factor 7" "Zinc fingers C2H2-type|KLF transcription factors|MicroRNA protein coding host genes" "28|624|1691" 1999-12-14 2022-07-04 2023-01-20 8609 ENSG00000118263 OTTHUMG00000132935 uc002vbz.3 AB015132 NM_003709 "CCDS59439|CCDS59438|CCDS2373|CCDS59440" O75840 9774444 MGI:1935151 RGD:1306029 604865 HGNC:6350 "ENST00000309446.11|NM_003709.4" +HGNC:49738 KLF4P1 KLF4 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 "Kruppel-like factor 4 (gut) pseudogene 1|Kruppel like factor 4 pseudogene 1" 2014-02-13 2023-06-16 2023-06-16 100420113 ENSG00000233186 OTTHUMG00000019473 NG_023778 PGOHUM00000260450 HGNC:49738 +HGNC:6349 KLF5 KLF transcription factor 5 protein-coding gene gene with protein product Approved 13q22.1 13q22.1 "IKLF|CKLF" intestinal Kruppel-like factor BTEB2 "Kruppel-like factor 5 (intestinal)|Kruppel like factor 5" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 2000-03-06 2022-07-04 2023-01-20 688 ENSG00000102554 OTTHUMG00000017074 uc001vje.4 D14520 NM_001286818 "CCDS9448|CCDS66562" Q13887 "8479902|9973612" MGI:1338056 RGD:621446 602903 HGNC:6349 "ENST00000377687.6|NM_001730.5" +HGNC:2235 KLF6 KLF transcription factor 6 protein-coding gene gene with protein product Approved 10p15.2 10p15.2 "CPBP|GBF|Zf9|PAC1" GC-rich binding factor "BCD1|ST12|COPEB" "core promoter element binding protein|Kruppel like factor 6" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 1997-10-16 2004-12-01 2022-07-04 2023-01-20 1316 ENSG00000067082 OTTHUMG00000017567 uc001iha.4 U51869 NM_001160124 "CCDS53490|CCDS7060" Q99612 "9503030|9685731" MGI:1346318 RGD:62389 KLF6 602053 HGNC:2235 "ENST00000497571.6|NM_001300.6" +HGNC:6350 KLF7 KLF transcription factor 7 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 UKLF ubiquitous Kruppel-like factor "Kruppel-like factor 7 (ubiquitous)|Kruppel like factor 7" "Zinc fingers C2H2-type|KLF transcription factors|MicroRNA protein coding host genes" "28|624|1691" 1999-12-14 2022-07-04 2023-01-20 8609 ENSG00000118263 OTTHUMG00000132935 uc002vbz.3 AB015132 NM_003709 "CCDS59440|CCDS59439|CCDS2373|CCDS59438" O75840 9774444 MGI:1935151 RGD:1306029 604865 HGNC:6350 "ENST00000309446.11|NM_003709.4" HGNC:41355 KLF7-IT1 KLF7 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 KLF7 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-23 2015-02-25 2015-02-25 100874272 ENSG00000237892 OTTHUMG00000154726 uc061rum.1 KLF7-IT1 -HGNC:17207 KLF7P1 Kruppel like factor 7 pseudogene 1 pseudogene pseudogene Approved 3q26.2 03q26.2 KLF7P kruppel-like factor 7 pseudogene 2008-12-09 2010-02-24 2022-01-10 2022-01-10 100128036 ENSG00000240704 OTTHUMG00000158998 NG_009752 PGOHUM00000237860 HGNC:17207 -HGNC:6351 KLF8 KLF transcription factor 8 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "BKLF3|ZNF741|DXS741" Kruppel like factor 8 "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 2000-03-14 2022-07-04 2023-01-20 11279 ENSG00000102349 OTTHUMG00000021666 uc004dur.4 U28282 NM_007250 "CCDS14373|CCDS87749|CCDS55428" O95600 MGI:2442430 RGD:1565831 300286 470570 HGNC:6351 "ENST00000468660.6|NM_007250.5" +HGNC:17207 KLF7P1 KLF7 pseudogene 1 pseudogene pseudogene Approved 3q26.2 03q26.2 KLF7P "kruppel-like factor 7 pseudogene|Kruppel like factor 7 pseudogene 1" 2008-12-09 2010-02-24 2023-06-16 2023-06-16 100128036 ENSG00000240704 OTTHUMG00000158998 NG_009752 PGOHUM00000237860 HGNC:17207 +HGNC:6351 KLF8 KLF transcription factor 8 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "BKLF3|ZNF741|DXS741" Kruppel like factor 8 "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 2000-03-14 2022-07-04 2023-01-20 11279 ENSG00000102349 OTTHUMG00000021666 uc004dur.4 U28282 NM_007250 "CCDS87749|CCDS14373|CCDS55428" O95600 MGI:2442430 RGD:1565831 300286 470570 HGNC:6351 "ENST00000468660.6|NM_007250.5" HGNC:41520 KLF8P1 Kruppel like factor 8 pseudogene 1 pseudogene pseudogene Approved 16q12.1 16q12.1 2011-05-03 2016-06-03 2017-10-26 100128777 ENSG00000260726 OTTHUMG00000174457 NG_011843 PGOHUM00000293855 HGNC:41520 HGNC:1123 KLF9 KLF transcription factor 9 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 BTEB1 "basic transcription element binding protein 1|Kruppel like factor 9" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 1994-05-17 2004-12-01 2022-07-04 2023-01-20 687 ENSG00000119138 OTTHUMG00000019991 uc004aht.4 BC069431 NM_001206 CCDS6633 Q13886 1356762 MGI:1333856 RGD:70934 602902 HGNC:1123 "ENST00000377126.4|NM_001206.4" HGNC:54815 KLF9-DT KLF9 divergent transcript non-coding RNA RNA, long non-coding Approved 9q21.12 09q21.12 Divergent transcripts 1990 2020-01-17 2020-07-16 101927086 XR_001746707 32079618 HGNC:11810 KLF10 KLF transcription factor 10 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "EGRA|TIEG1" early growth response alpha TIEG "TGFB inducible early growth response|Kruppel like factor 10" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 1997-08-28 2004-12-01 2022-07-04 2023-01-20 7071 ENSG00000155090 OTTHUMG00000164735 uc011lhk.3 U21847 NM_001032282 "CCDS6294|CCDS47905" Q13118 "8584037|9721211|20087894" MGI:1101353 RGD:621652 LRG_758|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_758.xml 601878 HGNC:11810 "ENST00000285407.11|NM_005655.4" HGNC:11810 -HGNC:11811 KLF11 KLF transcription factor 11 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "Tieg3|MODY7|FKLF" TIEG2 "TGFB inducible early growth response 2|Kruppel like factor 11" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 1998-10-02 2004-12-01 2022-07-04 2023-01-20 8462 ENSG00000172059 OTTHUMG00000119004 uc002raf.1 AF028008 NM_003597 "CCDS54333|CCDS1668" O14901 "9748269|11087666|15774581" MGI:2653368 RGD:1306646 603301 122868 HGNC:11811 "ENST00000305883.6|NM_003597.5" HGNC:11811 +HGNC:11811 KLF11 KLF transcription factor 11 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "Tieg3|MODY7|FKLF" TIEG2 "TGFB inducible early growth response 2|Kruppel like factor 11" "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 1998-10-02 2004-12-01 2022-07-04 2023-01-20 8462 ENSG00000172059 OTTHUMG00000119004 uc002raf.1 AF028008 NM_003597 "CCDS1668|CCDS54333" O14901 "9748269|11087666|15774581" MGI:2653368 RGD:1306646 603301 122868 HGNC:11811 "ENST00000305883.6|NM_003597.5" HGNC:11811 HGNC:56037 KLF11-DT KLF11 divergent transcript non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 Divergent transcripts 1990 2021-12-08 2021-12-08 101929882 NR_135558 HGNC:6346 KLF12 KLF transcription factor 12 protein-coding gene gene with protein product Approved 13q22.1 13q22.1 "AP-2rep|HSPC122|AP2REP" "KLF12 zinc finger transcriptional repressor|AP-2rep transcription factor|AP-2 repressor" Kruppel like factor 12 "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 2000-05-25 2022-07-04 2023-03-15 11278 ENSG00000118922 OTTHUMG00000017078 uc058xlm.1 AJ243274 NM_007249 CCDS9449 Q9Y4X4 10704285 MGI:1333796 RGD:1309204 607531 HGNC:6346 HGNC:13672 KLF13 KLF transcription factor 13 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "RFLAT-1|BTEB3|NSLP1|FKLF-2" Kruppel like factor 13 "Zinc fingers C2H2-type|KLF transcription factors" "28|624" 2000-09-28 2022-07-04 2023-01-20 51621 ENSG00000169926 OTTHUMG00000172224 uc001zfo.4 AF132599 NM_015995 CCDS10025 Q9Y2Y9 "10415854|10023774" MGI:1354948 RGD:1565099 605328 HGNC:13672 "ENST00000307145.4|NM_015995.4" @@ -14095,30 +14096,30 @@ HGNC:51793 KLF18 KLF transcription factor 18 protein-coding gene gene with prote HGNC:19836 KLHDC1 kelch domain containing 1 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 MST025 2002-11-27 2023-01-20 122773 ENSG00000197776 OTTHUMG00000140295 uc001www.3 AF111806 NM_172193 CCDS9692 Q8N7A1 MGI:2672853 RGD:1308211 611281 HGNC:19836 "ENST00000359332.7|NM_172193.3" HGNC:20231 KLHDC2 kelch domain containing 2 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "HCLP-1|LCP" 2003-01-15 2023-01-20 23588 ENSG00000165516 OTTHUMG00000140288 uc001wwx.4 AK001771 NM_014315 CCDS9693 Q9Y2U9 11384994 MGI:1916804 RGD:1306504 611280 HGNC:20231 "ENST00000298307.10|NM_014315.3" HGNC:20704 KLHDC3 kelch domain containing 3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "PEAS|hPeas|dJ20C7.3" 2003-06-02 2023-01-20 116138 ENSG00000124702 OTTHUMG00000014714 uc003otl.4 AB055925 NM_057161 CCDS4880 Q9BQ90 "12444059|12606021" MGI:2651568 RGD:1307105 611248 HGNC:20704 "ENST00000326974.9|NM_057161.4" -HGNC:25272 KLHDC4 kelch domain containing 4 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 DKFZp434G0522 2004-07-05 2023-01-20 54758 ENSG00000104731 OTTHUMG00000137657 uc002fki.4 AK001742 NM_017566 "CCDS54051|CCDS10963|CCDS54050" Q8TBB5 MGI:2384569 RGD:1561676 HGNC:25272 "ENST00000270583.10|NM_017566.4" +HGNC:25272 KLHDC4 kelch domain containing 4 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 DKFZp434G0522 2004-07-05 2023-01-20 54758 ENSG00000104731 OTTHUMG00000137657 uc002fki.4 AK001742 NM_017566 "CCDS54051|CCDS54050|CCDS10963" Q8TBB5 MGI:2384569 RGD:1561676 HGNC:25272 "ENST00000270583.10|NM_017566.4" HGNC:26791 KLHDC7A kelch domain containing 7A protein-coding gene gene with protein product Approved 1p36.13 01p36.13 FLJ38753 2005-10-06 2023-01-20 127707 ENSG00000179023 OTTHUMG00000002431 uc001bax.4 AK096072 NM_152375 CCDS185 Q5VTJ3 MGI:2444612 RGD:1309439 HGNC:26791 "ENST00000400664.3|NM_152375.3" HGNC:25145 KLHDC7B kelch domain containing 7B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 MGC16635 2005-10-06 2005-12-13 2023-01-20 113730 ENSG00000130487 OTTHUMG00000150250 uc003bmi.3 BC009980 NM_138433 CCDS14097 Q96G42 MGI:3648212 RGD:1562257 HGNC:25145 "ENST00000648057.3|NM_138433.5" HGNC:53791 KLHDC7B-DT KLHDC7B divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.33 22q13.33 enhancer 22 Divergent transcripts 1990 2020-01-31 2021-02-08 105373098 ENSG00000272666 XR_938356 "29625054|33538300" HGNC:25573 KLHDC8A kelch domain containing 8A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ10748 2005-12-05 2023-01-20 55220 ENSG00000162873 OTTHUMG00000037199 uc031prw.1 NM_018203 CCDS30985 Q8IYD2 MGI:2442630 RGD:1305132 614503 HGNC:25573 "ENST00000367155.8|NM_018203.3" HGNC:28557 KLHDC8B kelch domain containing 8B protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC35097 2005-12-05 2023-01-20 200942 ENSG00000185909 OTTHUMG00000156814 uc003cwh.4 NM_173546 CCDS2791 Q8IXV7 MGI:1925517 RGD:1359445 613169 HGNC:28557 "ENST00000332780.4|NM_173546.3" -HGNC:28489 KLHDC9 kelch domain containing 9 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 KARCA1 kelch/ankyrin repeat containing cyclin A1 interacting protein 2007-07-19 2023-03-15 126823 ENSG00000162755 OTTHUMG00000031479 uc001fxr.4 BC022077 NM_152366 "CCDS30919|CCDS41425" Q8NEP7 15159402 MGI:1916124 RGD:1561025 617375 HGNC:28489 "ENST00000368011.9|NM_152366.5" +HGNC:28489 KLHDC9 kelch domain containing 9 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 KARCA1 kelch/ankyrin repeat containing cyclin A1 interacting protein 2007-07-19 2023-03-15 126823 ENSG00000162755 OTTHUMG00000031479 uc001fxr.4 BC022077 NM_152366 "CCDS41425|CCDS30919" Q8NEP7 15159402 MGI:1916124 RGD:1561025 617375 HGNC:28489 "ENST00000368011.9|NM_152366.5" HGNC:22194 KLHDC10 kelch domain containing 10 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "KIAA0265|slim" scruin like at the midline homolog (Drosophila) 2008-08-20 2023-01-20 23008 ENSG00000128607 OTTHUMG00000157654 uc003vpj.3 NM_014997 CCDS5815 Q6PID8 MGI:1924038 RGD:1309792 615152 HGNC:22194 "ENST00000335420.10|NM_014997.4" -HGNC:6352 KLHL1 kelch like family member 1 protein-coding gene gene with protein product Approved 13q21.33 13q21.33 "KIAA1490|MRP2|FLJ30047" "Kelch-like protein 1|Mayven-related protein 2" "kelch (Drosophila)-like 1|kelch-like 1 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 1999-11-26 2015-11-18 2023-01-20 57626 ENSG00000150361 OTTHUMG00000017056 uc001vip.4 AB040923 NM_020866 "CCDS9445|CCDS73582" Q9NR64 10888605 MGI:2136335 RGD:1307452 605332 HGNC:6352 "ENST00000377844.9|NM_020866.3" -HGNC:6353 KLHL2 kelch like family member 2 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 MAV mayven "kelch (Drosophila)-like 2 (Mayven)|kelch-like 2, Mayven (Drosophila)" "Kelch like|BTB domain containing" "617|861" 1999-12-14 2015-11-18 2023-01-20 11275 ENSG00000109466 OTTHUMG00000161294 uc003irb.4 AF059569 NM_001161521 "CCDS34094|CCDS82974|CCDS54815|CCDS54816|CCDS82975" O95198 "10397770|16035103" MGI:1924363 RGD:1306388 605774 HGNC:6353 "ENST00000226725.11|NM_007246.4" +HGNC:6352 KLHL1 kelch like family member 1 protein-coding gene gene with protein product Approved 13q21.33 13q21.33 "KIAA1490|MRP2|FLJ30047" "Kelch-like protein 1|Mayven-related protein 2" "kelch (Drosophila)-like 1|kelch-like 1 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 1999-11-26 2015-11-18 2023-01-20 57626 ENSG00000150361 OTTHUMG00000017056 uc001vip.4 AB040923 NM_020866 "CCDS73582|CCDS9445" Q9NR64 10888605 MGI:2136335 RGD:1307452 605332 HGNC:6352 "ENST00000377844.9|NM_020866.3" +HGNC:6353 KLHL2 kelch like family member 2 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 MAV mayven "kelch (Drosophila)-like 2 (Mayven)|kelch-like 2, Mayven (Drosophila)" "Kelch like|BTB domain containing" "617|861" 1999-12-14 2015-11-18 2023-01-20 11275 ENSG00000109466 OTTHUMG00000161294 uc003irb.4 AF059569 NM_001161521 "CCDS82974|CCDS54815|CCDS34094|CCDS82975|CCDS54816" O95198 "10397770|16035103" MGI:1924363 RGD:1306388 605774 HGNC:6353 "ENST00000226725.11|NM_007246.4" HGNC:44046 KLHL2P1 kelch like family member 2 pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 MAVP1 kelch-like 2, Mayven (Drosophila) pseudogene 1 2012-05-29 2015-11-18 2015-11-18 729249 ENSG00000250412 OTTHUMG00000161332 NG_012269 PGOHUM00000250793 HGNC:44046 -HGNC:6354 KLHL3 kelch like family member 3 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 KIAA1129 "kelch (Drosophila)-like 3|kelch-like 3 (Drosophila)" "Kelch like|BTB domain containing|MicroRNA protein coding host genes" "617|861|1691" 1999-11-26 2015-11-18 2023-01-20 26249 ENSG00000146021 OTTHUMG00000129155 uc010jek.3 AB032955 NM_001257194 "CCDS58970|CCDS58969|CCDS4192" Q9UH77 10843806 MGI:2445185 RGD:1565218 605775 303801 HGNC:6354 "ENST00000309755.9|NM_017415.3" HGNC:6354 +HGNC:6354 KLHL3 kelch like family member 3 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 KIAA1129 "kelch (Drosophila)-like 3|kelch-like 3 (Drosophila)" "Kelch like|BTB domain containing|MicroRNA protein coding host genes" "617|861|1691" 1999-11-26 2015-11-18 2023-01-20 26249 ENSG00000146021 OTTHUMG00000129155 uc010jek.3 AB032955 NM_001257194 "CCDS4192|CCDS58970|CCDS58969" Q9UH77 10843806 MGI:2445185 RGD:1565218 605775 303801 HGNC:6354 "ENST00000309755.9|NM_017415.3" HGNC:6354 HGNC:6355 KLHL4 kelch like family member 4 protein-coding gene gene with protein product Approved Xq21.31 Xq21.31 "KIAA1687|DKELCHL|KHL4" "kelch (Drosophila)-like 4|kelch-like 4 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2000-05-02 2015-11-18 2023-01-20 56062 ENSG00000102271 OTTHUMG00000021946 uc004efb.3 AF284765 NM_019117 "CCDS14456|CCDS14457" Q9C0H6 11401425 MGI:2442829 RGD:1565441 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KLHL4 300348 HGNC:6355 "ENST00000373119.9|NM_019117.5" -HGNC:6356 KLHL5 kelch like family member 5 protein-coding gene gene with protein product Approved 4p14 04p14 "kelch (Drosophila)-like 5|kelch-like 5 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2000-06-09 2015-11-18 2023-01-20 51088 ENSG00000109790 OTTHUMG00000097819 uc003gtp.4 AF272976 NM_001007075 "CCDS33975|CCDS54756|CCDS3449" Q96PQ7 "11590829|14672410" MGI:1919028 RGD:1309661 608064 HGNC:6356 "ENST00000504108.7|NM_015990.5" +HGNC:6356 KLHL5 kelch like family member 5 protein-coding gene gene with protein product Approved 4p14 04p14 "kelch (Drosophila)-like 5|kelch-like 5 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2000-06-09 2015-11-18 2023-01-20 51088 ENSG00000109790 OTTHUMG00000097819 uc003gtp.4 AF272976 NM_001007075 "CCDS3449|CCDS33975|CCDS54756" Q96PQ7 "11590829|14672410" MGI:1919028 RGD:1309661 608064 HGNC:6356 "ENST00000504108.7|NM_015990.5" HGNC:18653 KLHL6 kelch like family member 6 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 FLJ00029 kelch-like protein KLHL6 kelch-like 6 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-05-21 2015-11-18 2023-01-20 89857 ENSG00000172578 OTTHUMG00000148673 uc003flr.4 AF441792 NM_130446 CCDS3245 Q8WZ60 "11214971|12617994" MGI:2686922 RGD:1307521 614214 HGNC:18653 "ENST00000341319.8|NM_130446.4" HGNC:40850 KLHL6-AS1 KLHL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 KLHL6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874019 ENSG00000242522 OTTHUMG00000158438 uc062qov.1 NR_046687 KLHL6-AS1 HGNC:40850 -HGNC:15646 KLHL7 kelch like family member 7 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "KLHL6|SBBI26|RP42" retinitis pigmentosa 42 kelch-like 7 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-05-21 2015-11-18 2023-01-20 55975 ENSG00000122550 OTTHUMG00000094813 uc003svs.5 NM_018846 "CCDS5378|CCDS55095|CCDS34609" Q8IXQ5 19520207 MGI:1196453 RGD:1305564 611119 201546 HGNC:15646 "ENST00000339077.10|NM_001031710.3" HGNC:15646 +HGNC:15646 KLHL7 kelch like family member 7 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "KLHL6|SBBI26|RP42" retinitis pigmentosa 42 kelch-like 7 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-05-21 2015-11-18 2023-01-20 55975 ENSG00000122550 OTTHUMG00000094813 uc003svs.5 NM_018846 "CCDS55095|CCDS34609|CCDS5378" Q8IXQ5 19520207 MGI:1196453 RGD:1305564 611119 201546 HGNC:15646 "ENST00000339077.10|NM_001031710.3" HGNC:15646 HGNC:43431 KLHL7-DT KLHL7 divergent transcript non-coding RNA RNA, long non-coding Approved 7p15.3 07p15.3 PLATAK placental transcript antisense to KLHL7 KLHL7-AS1 "KLHL7 antisense RNA 1 (non-protein coding)|KLHL7 antisense RNA 1|KLHL7 antisense RNA 1 (head to head)" Divergent transcripts 1990 2011-10-21 2018-03-23 2018-03-23 2018-03-23 100775104 ENSG00000230658 OTTHUMG00000152580 uc003svo.1 AK054880 NR_046220 KLHL7-AS1 HGNC:43431 HGNC:18644 KLHL8 kelch like family member 8 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 KIAA1378 kelch-like 8 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-06-10 2015-11-18 2023-01-20 57563 ENSG00000145332 OTTHUMG00000130593 uc003hql.2 AB037799 NM_001292003 "CCDS77937|CCDS75163|CCDS3617" Q9P2G9 MGI:2179430 RGD:1304685 611967 HGNC:18644 "ENST00000273963.10|NM_020803.5" HGNC:18732 KLHL9 kelch like family member 9 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "KIAA1354|FLJ13568" kelch-like 9 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-06-12 2015-11-18 2023-01-20 55958 ENSG00000198642 OTTHUMG00000019669 uc003zoy.4 AB037775 NM_018847 CCDS6503 Q9P2J3 17543862 MGI:2180122 RGD:1304814 611201 409811 HGNC:18732 "ENST00000359039.5|NM_018847.4" HGNC:18732 HGNC:18829 KLHL10 kelch like family member 10 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 FLJ32662 kelch-like 10 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-07-29 2015-11-18 2023-01-20 317719 ENSG00000161594 OTTHUMG00000152510 uc010cxr.4 AK057224 NM_152467 CCDS42340 Q6JEL2 17047026 MGI:2181067 RGD:1303290 608778 465725 HGNC:18829 "ENST00000293303.5|NM_152467.5" HGNC:18829 HGNC:19008 KLHL11 kelch like family member 11 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 FLJ10572 kelch-like 11 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-08-16 2015-11-18 2023-01-20 55175 ENSG00000178502 OTTHUMG00000133506 uc002hyf.2 NM_018143 CCDS11411 Q9NVR0 MGI:2388648 RGD:1306673 619078 HGNC:19008 "ENST00000319121.4|NM_018143.3" HGNC:19360 KLHL12 kelch like family member 12 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 C3IP1 kelch-like 12 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2004-02-13 2015-11-18 2023-01-20 59349 ENSG00000117153 OTTHUMG00000041385 uc001gyo.2 AF190900 NM_021633 CCDS1429 Q53G59 "16547521|24334870" MGI:2385619 RGD:628717 614522 HGNC:19360 "ENST00000367261.8|NM_021633.4" -HGNC:22931 KLHL13 kelch like family member 13 protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ10262 "BKLHD2|KIAA1309" "BTB and kelch domain containing 2, KIAA1309|kelch-like 13 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2003-07-23 2004-02-18 2015-11-18 2023-03-15 90293 ENSG00000003096 OTTHUMG00000022252 uc022cde.2 AB037730 NM_033495 "CCDS55481|CCDS14571|CCDS55480|CCDS94657" Q9P2N7 10718198 MGI:1914705 RGD:1559646 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KLHL13 300655 HGNC:22931 "ENST00000540167.6|NM_001168302.2" +HGNC:22931 KLHL13 kelch like family member 13 protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ10262 "BKLHD2|KIAA1309" "BTB and kelch domain containing 2, KIAA1309|kelch-like 13 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2003-07-23 2004-02-18 2015-11-18 2023-03-15 90293 ENSG00000003096 OTTHUMG00000022252 uc022cde.2 AB037730 NM_033495 "CCDS94657|CCDS14571|CCDS55481|CCDS55480" Q9P2N7 10718198 MGI:1914705 RGD:1559646 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KLHL13 300655 HGNC:22931 "ENST00000540167.6|NM_001168302.2" HGNC:29266 KLHL14 kelch like family member 14 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 KIAA1384 printor kelch-like 14 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2004-04-30 2015-11-18 2023-01-20 57565 ENSG00000197705 OTTHUMG00000179819 uc002kxm.2 AB037805 NM_020805 CCDS32813 Q9P2G3 "10718198|19535332" MGI:1921249 RGD:1566178 613772 HGNC:29266 "ENST00000359358.9|NM_020805.3" HGNC:29347 KLHL15 kelch like family member 15 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 KIAA1677 kelch-like 15 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2004-06-14 2015-11-18 2023-01-20 80311 ENSG00000174010 OTTHUMG00000021261 uc004dba.5 AB051464 NM_030624 CCDS35217 Q96M94 "11214970|14702039" MGI:1923400 RGD:1563101 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KLHL15 300980 470572 HGNC:29347 "ENST00000328046.8|NM_030624.3" HGNC:29347 HGNC:24023 KLHL17 kelch like family member 17 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 actinfilin kelch-like 17 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2004-08-05 2015-11-18 2023-01-20 339451 ENSG00000187961 OTTHUMG00000040721 uc001aca.3 AY423763 NM_198317 CCDS30550 Q6TDP4 12063253 MGI:2678948 RGD:708444 619262 HGNC:24023 "ENST00000338591.8|NM_198317.3" @@ -14130,54 +14131,54 @@ HGNC:27506 KLHL23 kelch like family member 23 protein-coding gene gene with prot HGNC:25947 KLHL24 kelch like family member 24 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "DRE1|FLJ20059|KRIP6" kelch-like 24 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2005-09-10 2015-11-18 2023-01-20 54800 ENSG00000114796 OTTHUMG00000156911 uc003flw.4 NM_017644 CCDS3246 Q6TFL4 "17254796|27889062" MGI:1923035 RGD:727971 611295 HGNC:25947 "ENST00000242810.11|NM_017644.3" HGNC:25947 HGNC:25732 KLHL25 kelch like family member 25 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "FLJ12587|ENC2|ENC-2" ectodermal-neural cortex 2 kelch-like 25 (Drosophila) "Kelch like|BTB domain containing|MicroRNA protein coding host genes" "617|861|1691" 2005-11-17 2015-11-18 2023-01-20 64410 ENSG00000183655 OTTHUMG00000148672 uc002bly.5 NM_022480 CCDS10339 Q9H0H3 27664236 MGI:2668031 RGD:1310815 619893 HGNC:25732 "ENST00000337975.6|NM_022480.4" HGNC:25732 HGNC:56403 KLHL25P1 KLHL25 pseudogene 1 pseudogene pseudogene Approved 3p24.1 03p24.1 2022-10-18 2022-10-18 127379729 ENSG00000224618 NG_007490 PGOHUM00000298980 -HGNC:25623 KLHL26 kelch like family member 26 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 kelch-like 26 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2006-01-23 2015-11-18 2023-01-20 55295 ENSG00000167487 OTTHUMG00000183114 uc002njz.2 NM_018316 "CCDS86726|CCDS86727|CCDS12384" Q53HC5 MGI:2443079 RGD:1312034 HGNC:25623 "ENST00000300976.9|NM_018316.3" -HGNC:19741 KLHL28 kelch like family member 28 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 FLJ20081 BTBD5 "BTB (POZ) domain containing 5|kelch-like 28 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2002-11-20 2007-01-09 2015-11-18 2023-01-20 54813 ENSG00000179454 OTTHUMG00000140263 uc001wvr.4 AK000088 NM_001308112 "CCDS76675|CCDS9680" Q9NXS3 MGI:1913939 RGD:1311326 HGNC:19741 "ENST00000396128.9|NM_017658.5" +HGNC:25623 KLHL26 kelch like family member 26 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 kelch-like 26 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2006-01-23 2015-11-18 2023-01-20 55295 ENSG00000167487 OTTHUMG00000183114 uc002njz.2 NM_018316 "CCDS86727|CCDS86726|CCDS12384" Q53HC5 MGI:2443079 RGD:1312034 HGNC:25623 "ENST00000300976.9|NM_018316.3" +HGNC:19741 KLHL28 kelch like family member 28 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 FLJ20081 BTBD5 "BTB (POZ) domain containing 5|kelch-like 28 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2002-11-20 2007-01-09 2015-11-18 2023-01-20 54813 ENSG00000179454 OTTHUMG00000140263 uc001wvr.4 AK000088 NM_001308112 "CCDS9680|CCDS76675" Q9NXS3 MGI:1913939 RGD:1311326 HGNC:19741 "ENST00000396128.9|NM_017658.5" HGNC:29404 KLHL29 kelch like family member 29 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 KIAA1921 KBTBD9 "kelch repeat and BTB (POZ) domain containing 9|kelch-like 29 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2004-01-05 2007-01-09 2015-11-18 2023-01-20 114818 ENSG00000119771 OTTHUMG00000151899 uc010ykg.3 NM_052920 CCDS54335 Q96CT2 11572484 MGI:2683857 RGD:1311076 HGNC:29404 "ENST00000486442.6|NM_052920.2" HGNC:24770 KLHL30 kelch like family member 30 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 FLJ43374 kelch-like 30 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2007-01-09 2015-11-18 2023-01-20 377007 ENSG00000168427 OTTHUMG00000152905 uc002vxr.3 NM_198582 CCDS46555 Q0D2K2 MGI:1918038 RGD:1309644 HGNC:24770 "ENST00000409223.2|NM_198582.4" HGNC:31018 KLHL30-AS1 KLHL30 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 C2orf19 "chromosome 2 open reading frame 19|KLHL30 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-01-19 2011-12-07 2012-08-15 2016-11-10 394261 ENSG00000279484 OTTHUMG00000152904 uc061udl.1 BC031945 Q8NEE0 HGNC:21353 KLHL31 kelch like family member 31 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "bA345L23.2|BKLHD6" KBTBD1 "kelch repeat and BTB (POZ) domain containing 1|kelch-like 31 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2003-11-26 2007-01-09 2015-11-18 2023-01-20 401265 ENSG00000124743 OTTHUMG00000014882 uc003pcb.4 NM_001003760 CCDS34478 Q9H511 MGI:3045305 RGD:1560540 610749 HGNC:21353 "ENST00000370905.4|NM_001003760.5" -HGNC:21221 KLHL32 kelch like family member 32 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "BKLHD5|KIAA1900" "BTB and kelch domain containing 5|KIAA1900|kelch-like 32 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2003-11-21 2007-01-09 2015-11-18 2023-01-20 114792 ENSG00000186231 OTTHUMG00000015247 uc011eae.1 AB067487 NM_052904 "CCDS75495|CCDS69154|CCDS69155|CCDS5038" Q96NJ5 MGI:3612790 RGD:1310364 HGNC:21221 "ENST00000369261.9|NM_052904.4" -HGNC:31952 KLHL33 kelch like family member 33 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 kelch-like 33 (Drosophila) Kelch like 617 2007-08-24 2015-11-18 2023-01-20 123103 ENSG00000185271 OTTHUMG00000170982 uc010tli.2 NM_001109997 "CCDS91847|CCDS53882" A6NCF5 MGI:3644593 RGD:2324282 HGNC:31952 "ENST00000636854.3|NM_001365790.2" +HGNC:21221 KLHL32 kelch like family member 32 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "BKLHD5|KIAA1900" "BTB and kelch domain containing 5|KIAA1900|kelch-like 32 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2003-11-21 2007-01-09 2015-11-18 2023-01-20 114792 ENSG00000186231 OTTHUMG00000015247 uc011eae.1 AB067487 NM_052904 "CCDS75495|CCDS5038|CCDS69154|CCDS69155" Q96NJ5 MGI:3612790 RGD:1310364 HGNC:21221 "ENST00000369261.9|NM_052904.4" +HGNC:31952 KLHL33 kelch like family member 33 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 kelch-like 33 (Drosophila) Kelch like 617 2007-08-24 2015-11-18 2023-01-20 123103 ENSG00000185271 OTTHUMG00000170982 uc010tli.2 NM_001109997 "CCDS53882|CCDS91847" A6NCF5 MGI:3644593 RGD:2324282 HGNC:31952 "ENST00000636854.3|NM_001365790.2" HGNC:26634 KLHL34 kelch like family member 34 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "FLJ34960|RP11-450P7.3" kelch-like 34 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2007-01-10 2015-11-18 2023-01-20 257240 ENSG00000185915 OTTHUMG00000021234 uc004czz.2 AK092279 NM_153270 CCDS14199 Q8N239 MGI:2685234 RGD:1560439 HGNC:26634 "ENST00000379499.3|NM_153270.3" HGNC:26597 KLHL35 kelch like family member 35 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FLJ33790 kelch-like 35 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2008-07-07 2015-11-18 2023-03-15 283212 ENSG00000149243 OTTHUMG00000133573 uc001owm.3 NM_173583 CCDS44685 Q6PF15 MGI:1919434 RGD:1565895 HGNC:26597 "ENST00000539798.3|NM_001039548.3" -HGNC:17844 KLHL36 kelch like family member 36 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FLJ12543 C16orf44 "chromosome 16 open reading frame 44|kelch-like 36 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2001-12-19 2008-07-07 2015-11-18 2023-01-20 79786 ENSG00000135686 OTTHUMG00000137642 uc002fig.4 AK022605 NM_001303451 "CCDS76909|CCDS10948" Q8N4N3 MGI:2385305 RGD:1561366 HGNC:17844 "ENST00000564996.6|NM_024731.4" +HGNC:17844 KLHL36 kelch like family member 36 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FLJ12543 C16orf44 "chromosome 16 open reading frame 44|kelch-like 36 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2001-12-19 2008-07-07 2015-11-18 2023-01-20 79786 ENSG00000135686 OTTHUMG00000137642 uc002fig.4 AK022605 NM_001303451 "CCDS10948|CCDS76909" Q8N4N3 MGI:2385305 RGD:1561366 HGNC:17844 "ENST00000564996.6|NM_024731.4" HGNC:34435 KLHL38 kelch like family member 38 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 C8ORFK36 kelch-like 38 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2008-07-25 2015-11-18 2023-01-20 340359 ENSG00000175946 OTTHUMG00000164983 uc003yqs.2 NM_001081675 CCDS43766 Q2WGJ6 MGI:3045310 RGD:1564169 HGNC:34435 "ENST00000684634.1|NM_001081675.3" HGNC:30372 KLHL40 kelch like family member 40 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "SRYP|NEM8" "sarcosynapsin|nemaline myopathy type 8" KBTBD5 "kelch repeat and BTB (POZ) domain containing 5|kelch-like 40 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2003-12-16 2013-01-08 2015-11-18 2023-01-20 131377 ENSG00000157119 OTTHUMG00000133045 uc003clv.2 AK056577 NM_152393 CCDS2703 Q2TBA0 23746549 MGI:1919580 RGD:1305368 615340 358562 HGNC:30372 "ENST00000287777.5|NM_152393.4" HGNC:30372 HGNC:16905 KLHL41 kelch like family member 41 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "SARCOSIN|Krp1" sarcomeric muscle protein KBTBD10 "kelch repeat and BTB (POZ) domain containing 10|kelch-like 41 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2004-01-15 2013-01-08 2015-11-18 2023-01-20 10324 ENSG00000239474 OTTHUMG00000132205 uc002ueu.1 AF056929 NM_006063 CCDS2234 O60662 9655184 MGI:2683854 RGD:620852 607701 376977 HGNC:16905 "ENST00000284669.2|NM_006063.3" HGNC:16905 HGNC:29252 KLHL42 kelch like family member 42 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "KIAA1340|Ctb9" KLHDC5 kelch domain containing 5 Kelch like 617 2005-02-08 2013-01-30 2015-11-18 2023-01-20 57542 ENSG00000087448 OTTHUMG00000169217 uc001rij.4 AB037761 NM_020782 CCDS31763 Q9P2K6 "19261606|32071084" MGI:2444786 RGD:1560924 618919 HGNC:29252 "ENST00000381271.7|NM_020782.2" HGNC:6357 KLK1 kallikrein 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Klk6 kallikrein 1, renal/pancreas/salivary Kallikreins 616 1988-06-27 2006-10-27 2023-01-20 3816 ENSG00000167748 OTTHUMG00000182876 uc002ptk.3 L10038 NM_002257 CCDS12804 P06870 "1684954|16800724|16800723" MGI:102850 RGD:2969 147910 objectId:2865 3.4.21.35 HGNC:6357 "ENST00000301420.3|NM_002257.4" HGNC:6357 -HGNC:6363 KLK2 kallikrein related peptidase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 kallikrein 2, prostatic Kallikreins 616 1988-08-11 2015-11-13 2023-01-20 3817 ENSG00000167751 OTTHUMG00000182963 uc002ptv.4 M18157 NM_005551.3 "CCDS12808|CCDS42597|CCDS58675" P20151 "2468530|16800724|16800723" "MGI:95291|MGI:95292|MGI:95293|MGI:97320|MGI:97322|MGI:102850|MGI:891980|MGI:891981|MGI:891982|MGI:892018|MGI:892019|MGI:892020|MGI:892021|MGI:892022|MGI:892023" KLK2 147960 S01.161 objectId:2372 3.4.21.35 HGNC:6363 "ENST00000325321.8|NM_005551.5" -HGNC:6364 KLK3 kallikrein related peptidase 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PSA prostate specific antigen APS kallikrein 3, (prostate specific antigen) Kallikreins 616 2001-06-22 2015-11-13 2023-03-15 354 ENSG00000142515 OTTHUMG00000182867 uc021uyi.2 X14810 NM_145864 "CCDS12807|CCDS33083|CCDS46155" P07288 "2456523|2436946|16800724|16800723" "MGI:95291|MGI:95293|MGI:97320|MGI:97322|MGI:102850|MGI:891980|MGI:891981|MGI:891982|MGI:892018|MGI:892019|MGI:892020|MGI:892021|MGI:892022|MGI:892023" 176820 S01.162 objectId:2373 HGNC:6364 "ENST00000326003.7|NM_001648.2" +HGNC:6363 KLK2 kallikrein related peptidase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 kallikrein 2, prostatic Kallikreins 616 1988-08-11 2015-11-13 2023-01-20 3817 ENSG00000167751 OTTHUMG00000182963 uc002ptv.4 M18157 NM_005551.3 "CCDS58675|CCDS42597|CCDS12808" P20151 "2468530|16800724|16800723" "MGI:95291|MGI:95292|MGI:95293|MGI:97320|MGI:97322|MGI:102850|MGI:891980|MGI:891981|MGI:891982|MGI:892018|MGI:892019|MGI:892020|MGI:892021|MGI:892022|MGI:892023" KLK2 147960 S01.161 objectId:2372 3.4.21.35 HGNC:6363 "ENST00000325321.8|NM_005551.5" +HGNC:6364 KLK3 kallikrein related peptidase 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PSA prostate specific antigen APS kallikrein 3, (prostate specific antigen) Kallikreins 616 2001-06-22 2015-11-13 2023-03-15 354 ENSG00000142515 OTTHUMG00000182867 uc021uyi.2 X14810 NM_145864 "CCDS12807|CCDS46155|CCDS33083" P07288 "2456523|2436946|16800724|16800723" "MGI:95291|MGI:95293|MGI:97320|MGI:97322|MGI:102850|MGI:891980|MGI:891981|MGI:891982|MGI:892018|MGI:892019|MGI:892020|MGI:892021|MGI:892022|MGI:892023" 176820 S01.162 objectId:2373 HGNC:6364 "ENST00000326003.7|NM_001648.2" HGNC:6365 KLK4 kallikrein related peptidase 4 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "EMSP|EMSP1|PSTS|KLK-L1" enamel matrix serine proteinase 1 PRSS17 kallikrein 4 (prostase, enamel matrix, prostate) "Kallikreins|Serine proteases" "616|738" 1999-04-29 2015-11-13 2023-01-20 9622 ENSG00000167749 OTTHUMG00000182964 uc002pua.1 AF113141 NM_004917 CCDS12809 Q9Y5K2 "10077646|10438493|16800724|10863090|9465170" MGI:1861379 RGD:1303228 603767 139168 S01.251 objectId:2374 HGNC:6365 "ENST00000324041.6|NM_004917.5" HGNC:6365 HGNC:6366 KLK5 kallikrein related peptidase 5 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SCTE|KLK-L2" kallikrein 5 Kallikreins 616 2000-03-16 2015-11-13 2023-01-20 25818 ENSG00000167754 OTTHUMG00000183097 uc002puf.4 AF135028 NM_012427 CCDS12810 Q9Y337 "10514489|10608802|16800724|17012259" MGI:1915918 RGD:1593461 605643 S01.017 objectId:2375 HGNC:6366 "ENST00000336334.8|NM_012427.5" HGNC:6367 KLK6 kallikrein related peptidase 6 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "Bssp|Klk7|neurosin" "PRSS9|PRSS18" "protease, serine, 18|kallikrein 6 (neurosin, zyme)" "Kallikreins|Serine proteases" "616|738" 1997-06-09 2015-11-13 2023-01-20 5653 ENSG00000167755 OTTHUMG00000183098 uc002pul.3 U62801 NM_002774 "CCDS42599|CCDS12811" Q92876 "9003450|16800724|16800723" MGI:1343166 RGD:3419 602652 S01.236 objectId:2376 HGNC:6367 "ENST00000310157.7|NM_002774.4" -HGNC:6368 KLK7 kallikrein related peptidase 7 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 SCCE PRSS6 kallikrein 7 (chymotryptic, stratum corneum) "Kallikreins|Serine proteases" "616|738" 1995-06-14 2015-11-13 2023-01-20 5650 ENSG00000169035 OTTHUMG00000182917 uc002puo.4 L33404 NM_005046 "CCDS59414|CCDS12812" P49862 "8034709|16800724|16800723" MGI:1346336 RGD:1306420 604438 S01.300 objectId:2377 HGNC:6368 "ENST00000595820.6|NM_005046.4" -HGNC:6369 KLK8 kallikrein related peptidase 8 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "HNP|TADG14|neuropsin|ovasin" PRSS19 kallikrein 8 (neuropsin/ovasin) "Kallikreins|Serine proteases" "616|738" 1999-09-09 2015-11-13 2023-01-20 11202 ENSG00000129455 OTTHUMG00000183086 uc002pur.2 AB008390 NM_007196 "CCDS42600|CCDS12815|CCDS12813|CCDS12814|CCDS74433" O60259 "10102990|9714609|16800724|16800723" MGI:1343327 RGD:1305998 605644 S01.244 objectId:2378 HGNC:6369 "ENST00000695909.1|NM_007196.4" +HGNC:6368 KLK7 kallikrein related peptidase 7 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 SCCE PRSS6 kallikrein 7 (chymotryptic, stratum corneum) "Kallikreins|Serine proteases" "616|738" 1995-06-14 2015-11-13 2023-01-20 5650 ENSG00000169035 OTTHUMG00000182917 uc002puo.4 L33404 NM_005046 "CCDS12812|CCDS59414" P49862 "8034709|16800724|16800723" MGI:1346336 RGD:1306420 604438 S01.300 objectId:2377 HGNC:6368 "ENST00000595820.6|NM_005046.4" +HGNC:6369 KLK8 kallikrein related peptidase 8 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "HNP|TADG14|neuropsin|ovasin" PRSS19 kallikrein 8 (neuropsin/ovasin) "Kallikreins|Serine proteases" "616|738" 1999-09-09 2015-11-13 2023-01-20 11202 ENSG00000129455 OTTHUMG00000183086 uc002pur.2 AB008390 NM_007196 "CCDS74433|CCDS12815|CCDS12814|CCDS12813|CCDS42600" O60259 "10102990|9714609|16800724|16800723" MGI:1343327 RGD:1305998 605644 S01.244 objectId:2378 HGNC:6369 "ENST00000695909.1|NM_007196.4" HGNC:6370 KLK9 kallikrein related peptidase 9 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KLK-L3 kallikrein 9 Kallikreins 616 2000-03-16 2015-11-13 2023-01-20 284366 ENSG00000213022 OTTHUMG00000183087 uc002pux.2 AF135026 NM_012315 CCDS12816 Q9UKQ9 "16800724|16800723" MGI:1921082 RGD:1308280 605504 S01.307 HGNC:6370 "ENST00000594211.2|NM_012315.2" HGNC:6358 KLK10 kallikrein related peptidase 10 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 NES1 PRSSL1 kallikrein 10 Kallikreins 616 1997-05-09 2015-11-13 2023-01-20 5655 ENSG00000129451 OTTHUMG00000182916 uc002pva.4 AF024605 NM_002776 CCDS12817 O43240 "8764136|9533035|16800724|16800723|10675891" MGI:1916790 RGD:1303242 602673 S01.246 HGNC:6358 "ENST00000358789.8|NM_145888.3" HGNC:6359 KLK11 kallikrein related peptidase 11 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 TLSP PRSS20 kallikrein 11 "Kallikreins|Serine proteases" "616|738" 1999-10-19 2015-11-13 2023-01-20 11012 ENSG00000167757 OTTHUMG00000182915 uc002pvd.2 AB012917 NM_006853 "CCDS54297|CCDS12818|CCDS12819" Q9UBX7 "9765601|10662548|16800724|16800723" MGI:1929977 RGD:1308690 604434 S01.257 HGNC:6359 "ENST00000453757.8|NM_001136032.3" -HGNC:6360 KLK12 kallikrein related peptidase 12 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KLK-L5 kallikrein 12 Kallikreins 616 2000-03-16 2015-11-13 2023-01-20 43849 ENSG00000186474 OTTHUMG00000165806 uc002pvh.2 NM_019598 "CCDS12820|CCDS12821" Q9UKR0 "16800724|16800723" MGI:1916761 RGD:1308975 605539 S01.020 HGNC:6360 "ENST00000684732.1|NM_001370125.1" -HGNC:6361 KLK13 kallikrein related peptidase 13 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KLK-L4 kallikrein 13 Kallikreins 616 2000-03-16 2015-11-13 2023-01-20 26085 ENSG00000167759 OTTHUMG00000182912 uc002pvn.4 NM_015596 "CCDS86794|CCDS12822|CCDS86795" Q9UKR3 "16800724|16800723" MGI:3615275 RGD:1309337 605505 S01.306 HGNC:6361 "ENST00000595793.6|NM_015596.3" +HGNC:6360 KLK12 kallikrein related peptidase 12 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KLK-L5 kallikrein 12 Kallikreins 616 2000-03-16 2015-11-13 2023-01-20 43849 ENSG00000186474 OTTHUMG00000165806 uc002pvh.2 NM_019598 "CCDS12821|CCDS12820" Q9UKR0 "16800724|16800723" MGI:1916761 RGD:1308975 605539 S01.020 HGNC:6360 "ENST00000684732.1|NM_001370125.1" +HGNC:6361 KLK13 kallikrein related peptidase 13 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KLK-L4 kallikrein 13 Kallikreins 616 2000-03-16 2015-11-13 2023-01-20 26085 ENSG00000167759 OTTHUMG00000182912 uc002pvn.4 NM_015596 "CCDS86795|CCDS12822|CCDS86794" Q9UKR3 "16800724|16800723" MGI:3615275 RGD:1309337 605505 S01.306 HGNC:6361 "ENST00000595793.6|NM_015596.3" HGNC:6362 KLK14 kallikrein related peptidase 14 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KLK-L6 kallikrein 14 Kallikreins 616 2000-03-16 2015-11-13 2023-01-20 43847 ENSG00000129437 OTTHUMG00000143721 uc061bwe.1 AF283670 NM_022046 CCDS12823 Q9P0G3 "16800724|16800723" MGI:2447564 RGD:1308606 606135 S01.029 objectId:2866 HGNC:6362 "ENST00000650543.2|NM_001369775.2" -HGNC:20453 KLK15 kallikrein related peptidase 15 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "HSRNASPH|ACO|prostinogen" kallikrein 15 Kallikreins 616 2004-04-20 2015-11-13 2023-03-15 55554 ENSG00000174562 OTTHUMG00000183116 uc002ptl.4 AF242195 NM_017509 "CCDS62766|CCDS12805|CCDS12806" Q9H2R5 "11010966|12439720|16800724|16800723" MGI:2447533 RGD:1310995 610601 S01.081 HGNC:20453 "ENST00000598239.6|NM_017509.4" -HGNC:6371 KLKB1 kallikrein B1 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 Fletcher factor KLK3 kallikrein B, plasma (Fletcher factor) 1 Kallikreins 616 1999-04-23 2015-11-13 2023-01-20 3818 ENSG00000164344 OTTHUMG00000150347 uc003iyy.4 M13143 NM_000892 "CCDS82982|CCDS34120" P03952 "9535413|3521732" MGI:102849 RGD:67382 LRG_565|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_565.xml 229000 122872 S01.212 objectId:2379 HGNC:6371 "ENST00000264690.11|NM_000892.5" HGNC:6371 +HGNC:20453 KLK15 kallikrein related peptidase 15 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "HSRNASPH|ACO|prostinogen" kallikrein 15 Kallikreins 616 2004-04-20 2015-11-13 2023-03-15 55554 ENSG00000174562 OTTHUMG00000183116 uc002ptl.4 AF242195 NM_017509 "CCDS62766|CCDS12806|CCDS12805" Q9H2R5 "11010966|12439720|16800724|16800723" MGI:2447533 RGD:1310995 610601 S01.081 HGNC:20453 "ENST00000598239.6|NM_017509.4" +HGNC:6371 KLKB1 kallikrein B1 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 Fletcher factor KLK3 kallikrein B, plasma (Fletcher factor) 1 Kallikreins 616 1999-04-23 2015-11-13 2023-01-20 3818 ENSG00000164344 OTTHUMG00000150347 uc003iyy.4 M13143 NM_000892 "CCDS34120|CCDS82982" P03952 "9535413|3521732" MGI:102849 RGD:67382 LRG_565|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_565.xml 229000 122872 S01.212 objectId:2379 HGNC:6371 "ENST00000264690.11|NM_000892.5" HGNC:6371 HGNC:21260 KLKP1 kallikrein pseudogene 1 pseudogene pseudogene Approved 19q13.33 19q13.33 "YKLK1|PsiKLK1|KLK31P" kallikrein 31 pseudogene 2005-08-04 2014-03-18 606293 ENSG00000197588 OTTHUMG00000183118 AY302756 NG_005220 Q107X0 "15498522|16541416|18196551" S01.P08 HGNC:21260 HGNC:37212 KLLN killin, p53 regulated DNA replication inhibitor protein-coding gene gene with protein product Approved 10q23 10q23 killin killin, p53-regulated DNA replication inhibitor 2011-02-18 2017-12-08 2023-01-20 100144748 ENSG00000227268 OTTHUMG00000186455 uc009xti.3 NM_001126049 CCDS44454 B2CW77 18385383 RGD:7720631 LRG_1087|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1087.xml 612105 326886 HGNC:37212 "ENST00000445946.5|NM_001126049.2" HGNC:37212 HGNC:6372 KLRA1P killer cell lectin like receptor A1, pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 "Ly49|LY49L" "KLRA1|KLRAP1" "killer cell lectin-like receptor subfamily A, member 1|killer cell lectin-like receptor subfamily A pseudogene 1" Killer cell lectin like receptors 621 1998-01-16 2016-01-14 2016-01-14 2023-03-15 10748 ENSG00000256667 OTTHUMG00000160127 AF047445 NR_028045 9645365 604274 HGNC:6372 HGNC:6373 KLRB1 killer cell lectin like receptor B1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CD161|NKR-P1|NKR-P1A|hNKR-P1A|CLEC5B" natural killer cell surface protein P1A NKR killer cell lectin-like receptor subfamily B, member 1 "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 1998-01-16 2016-01-14 2023-01-20 3820 ENSG00000111796 OTTHUMG00000168581 uc010sgt.3 U11276 NM_002258 CCDS8601 Q12918 8077657 "MGI:107540|MGI:107539|MGI:107538" RGD:1586149 602890 CD161 HGNC:6373 "ENST00000229402.4|NM_002258.3" -HGNC:6374 KLRC1 killer cell lectin like receptor C1 protein-coding gene gene with protein product Approved 12p13 12p13 "NKG2-A|NKG2-B|CD159a" NKG2-1/B activating NK receptor NKG2 killer cell lectin-like receptor subfamily C, member 1 "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 1998-01-16 2016-01-14 2023-01-20 3821 ENSG00000134545 OTTHUMG00000168584 uc001qyn.5 U54782 NM_002259 "CCDS8626|CCDS8625|CCDS76531" P26715 9598306 MGI:1336161 RGD:2976 161555 objectId:2849 CD159a HGNC:6374 "ENST00000359151.8|NM_002259.5" +HGNC:6374 KLRC1 killer cell lectin like receptor C1 protein-coding gene gene with protein product Approved 12p13 12p13 "NKG2-A|NKG2-B|CD159a" NKG2-1/B activating NK receptor NKG2 killer cell lectin-like receptor subfamily C, member 1 "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 1998-01-16 2016-01-14 2023-01-20 3821 ENSG00000134545 OTTHUMG00000168584 uc001qyn.5 U54782 NM_002259 "CCDS8625|CCDS76531|CCDS8626" P26715 9598306 MGI:1336161 RGD:2976 161555 objectId:2849 CD159a HGNC:6374 "ENST00000359151.8|NM_002259.5" HGNC:6375 KLRC2 killer cell lectin like receptor C2 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "NKG2-C|CD159c|NKG2C" "NKG2-C type II integral membrane protein|natural killer cell receptor G2-C" killer cell lectin-like receptor subfamily C, member 2 "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 1998-01-16 2016-01-14 2023-01-20 3822 ENSG00000205809 OTTHUMG00000168532 uc001qyk.4 X54869 NM_002260 CCDS31745 P26717 9598306 MGI:1336162 RGD:2977 602891 objectId:3172 CD159c HGNC:6375 "ENST00000381902.7|NM_002260.4" HGNC:6376 KLRC3 killer cell lectin like receptor C3 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 NKG2-E killer cell lectin-like receptor subfamily C, member 3 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 1998-01-16 2016-01-14 2023-01-20 3823 ENSG00000205810 OTTHUMG00000167149 uc001qyi.2 L14542 NM_002261 "CCDS31744|CCDS41755" Q07444 9598306 MGI:1929720 RGD:1560637 602892 HGNC:6376 "ENST00000396439.7|NM_002261.3" HGNC:6377 KLRC4 killer cell lectin like receptor C4 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 NKG2-F killer cell lectin-like receptor subfamily C, member 4 Killer cell lectin like receptors 621 1998-09-03 2016-01-14 2023-01-20 8302 ENSG00000183542 OTTHUMG00000168575 uc001qye.4 U96846 NM_013431 CCDS8624 O43908 9598306 "MGI:1336161|MGI:1336162|MGI:1929720" 602893 449077 HGNC:6377 "ENST00000309384.3|NM_013431.2" HGNC:48357 KLRC4-KLRK1 KLRC4-KLRK1 readthrough other readthrough Approved 12p13.2 12p13.2 2013-09-25 2013-09-25 100528032 ENSG00000255819 OTTHUMG00000168531 NM_001199805 MGI:1196250 RGD:727903 HGNC:48357 -HGNC:6378 KLRD1 killer cell lectin like receptor D1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 CD94 killer cell lectin-like receptor subfamily D, member 1 "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 1998-01-16 2016-01-14 2023-01-20 3824 ENSG00000134539 OTTHUMG00000168419 uc001qxw.5 U30610 NM_002262 "CCDS8621|CCDS8622|CCDS86281" Q13241 7589107 MGI:1196275 RGD:2978 602894 CD94 HGNC:6378 "ENST00000336164.9|NM_002262.5" -HGNC:13342 KLRF1 killer cell lectin like receptor F1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CLEC5C|NKp80" killer cell lectin-like receptor subfamily F, member 1 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 2001-07-20 2016-01-14 2023-01-20 51348 ENSG00000150045 OTTHUMG00000168391 uc031yua.2 AF175206 NM_016523 "CCDS91652|CCDS76526|CCDS76527|CCDS41750" Q9NZS2 10671213 RGD:1587563 605029 HGNC:13342 "ENST00000617889.5|NM_016523.3" +HGNC:6378 KLRD1 killer cell lectin like receptor D1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 CD94 killer cell lectin-like receptor subfamily D, member 1 "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 1998-01-16 2016-01-14 2023-01-20 3824 ENSG00000134539 OTTHUMG00000168419 uc001qxw.5 U30610 NM_002262 "CCDS86281|CCDS8621|CCDS8622" Q13241 7589107 MGI:1196275 RGD:2978 602894 CD94 HGNC:6378 "ENST00000336164.9|NM_002262.5" +HGNC:13342 KLRF1 killer cell lectin like receptor F1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CLEC5C|NKp80" killer cell lectin-like receptor subfamily F, member 1 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 2001-07-20 2016-01-14 2023-01-20 51348 ENSG00000150045 OTTHUMG00000168391 uc031yua.2 AF175206 NM_016523 "CCDS76527|CCDS91652|CCDS76526|CCDS41750" Q9NZS2 10671213 RGD:1587563 605029 HGNC:13342 "ENST00000617889.5|NM_016523.3" HGNC:37646 KLRF2 killer cell lectin like receptor F2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 NKp65 killer cell lectin-like receptor subfamily F, member 2 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 2010-06-30 2016-01-14 2023-01-20 100431172 ENSG00000256797 OTTHUMG00000187141 uc021quy.1 NM_001190765 CCDS53743 D3W0D1 20194751 618814 HGNC:37646 "ENST00000535540.1|NM_001190765.1" HGNC:6380 KLRG1 killer cell lectin like receptor G1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "MAFA|2F1|MAFA-L|CLEC15A" "C-type lectin domain family 15, member A|mast cell function-associated antigen" killer cell lectin-like receptor subfamily G, member 1 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 1999-09-17 2016-01-14 2023-01-20 10219 ENSG00000139187 OTTHUMG00000168277 uc001qvg.4 AF097358 NM_005810 "CCDS86277|CCDS8599" Q96E93 "9862378|9842918|16461340|16140789" MGI:1355294 RGD:61978 604874 HGNC:6380 "ENST00000356986.8|NM_005810.4" HGNC:24778 KLRG2 killer cell lectin like receptor G2 protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ44186|CLEC15B" C-type lectin domain family 15, member B killer cell lectin-like receptor subfamily G, member 2 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 2007-01-22 2016-01-14 2023-01-20 346689 ENSG00000188883 OTTHUMG00000157705 uc003vvb.4 AK126174 NM_198508 CCDS5854 A4D1S0 MGI:1921503 RGD:1587495 HGNC:24778 "ENST00000340940.5|NM_198508.4" HGNC:18788 KLRK1 killer cell lectin like receptor K1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "NKG2D|KLR|NKG2-D|CD314" D12S2489E "DNA segment on chromosome 12 (unique) 2489 expressed sequence|killer cell lectin-like receptor subfamily K, member 1" "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 2003-12-12 2016-01-14 2023-03-15 22914 ENSG00000213809 OTTHUMG00000168574 uc009zhj.4 AJ001687 NM_007360 P26718 "9683661|2007850" MGI:1196250 RGD:3180 611817 CD314 HGNC:18788 "ENST00000240618.11|NM_007360.4" HGNC:54868 KLRK1-AS1 KLRK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 "LOC101928100|TP53LC04" Antisense RNAs 1987 2020-04-01 2022-07-22 101928100 ENSG00000245648 NR_120430 "32216054|35609991" -HGNC:6381 KMO kynurenine 3-monooxygenase protein-coding gene gene with protein product Approved 1q43 01q43 kynurenine 3-hydroxylase kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 1998-12-18 2016-06-03 2023-01-20 8564 ENSG00000117009 OTTHUMG00000039635 uc009xgp.4 AF056032 NM_003679 "CCDS1618|CCDS91182" O15229 9237672 MGI:2138151 RGD:620610 603538 objectId:2886 1.14.13.9 HGNC:6381 "ENST00000366559.9|NM_003679.5" +HGNC:6381 KMO kynurenine 3-monooxygenase protein-coding gene gene with protein product Approved 1q43 01q43 kynurenine 3-hydroxylase kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 1998-12-18 2016-06-03 2023-01-20 8564 ENSG00000117009 OTTHUMG00000039635 uc009xgp.4 AF056032 NM_003679 "CCDS91182|CCDS1618" O15229 9237672 MGI:2138151 RGD:620610 603538 objectId:2886 1.14.13.9 HGNC:6381 "ENST00000366559.9|NM_003679.5" HGNC:7132 KMT2A lysine methyltransferase 2A protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TRX1|HRX|ALL-1|HTRX1|CXXC7|MLL1A|MLL1|ALL1|HTRX" Histone-lysine N-methyltransferase 2A MLL "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)|lysine (K)-specific methyltransferase 2A|Trithorax-like protein|CXXC-type zinc finger protein 7|Acute lymphocytic 1" "PHD finger proteins|Zinc fingers CXXC-type|Lysine methyltransferases|Bromodomain containing|SET domain containing" "88|136|487|1232|1399" 1991-11-15 2013-05-09 2016-02-12 2023-01-20 4297 ENSG00000118058 OTTHUMG00000166337 L04284 NM_005933 "CCDS55791|CCDS31686" Q03164 "1720549|24886118" MGI:96995 RGD:1586165 LRG_613|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_613.xml KMT2A 159555 123271 objectId:2688 2.1.1.364 HGNC:7132 "ENST00000534358.8|NM_001197104.2" HGNC:7132 HGNC:15840 KMT2B lysine methyltransferase 2B protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "KIAA0304|MLL2|TRX2|HRX2|WBP7|MLL1B|MLL4|CXXC10" "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4|Histone-lysine N-methyltransferase 2B" lysine (K)-specific methyltransferase 2B "PHD finger proteins|Zinc fingers CXXC-type|Lysine methyltransferases|SET domain containing" "88|136|487|1399" 2013-05-09 2016-02-12 2023-01-20 9757 ENSG00000272333 OTTHUMG00000048119 AJ007041 NM_014727 CCDS46055 Q9UMN6 "10409430|10637508|27839873|25561738" MGI:109565 RGD:7678027 606834 objectId:2689 2.1.1.364 HGNC:15840 "ENST00000420124.4|NM_014727.3" HGNC:15840 HGNC:13726 KMT2C lysine methyltransferase 2C protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "KIAA1506|HALR" Histone-lysine N-methyltransferase 2C MLL3 "myeloid/lymphoid or mixed-lineage leukemia 3|lysine (K)-specific methyltransferase 2C" "PHD finger proteins|Lysine methyltransferases|SET domain containing" "88|487|1399" 2000-11-08 2013-05-09 2016-02-12 2023-03-15 58508 ENSG00000055609 OTTHUMG00000150553 AF264750 NM_170606 CCDS5931 Q8NEZ4 "10819331|11718452|29755131" MGI:2444959 RGD:1587205 KMT2C 606833 objectId:2690 2.1.1.364 HGNC:13726 "ENST00000262189.11|NM_170606.3" HGNC:13726 @@ -14187,17 +14188,17 @@ HGNC:56181 KMT2CP3 lysine methyltransferase 2C pseudogene 3 pseudogene pseudogen HGNC:56182 KMT2CP4 lysine methyltransferase 2C pseudogene 4 pseudogene pseudogene Approved 2p11.2 02p11.2 2022-01-14 2022-01-14 101927050 ENSG00000283132 NR_136329 PGOHUM00000297983 HGNC:56183 KMT2CP5 lysine methyltransferase 2C pseudogene 5 pseudogene pseudogene Approved 2p11.2 02p11.2 2022-01-14 2022-01-14 107985798 ENSG00000230572 NR_171627 PGOHUM00000297989 HGNC:7133 KMT2D lysine methyltransferase 2D protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "ALR|MLL4|CAGL114" "histone-lysine N-methyltransferase 2D|ALL1-related" "TNRC21|MLL2" "trinucleotide repeat containing 21|myeloid/lymphoid or mixed-lineage leukemia 2|lysine (K)-specific methyltransferase 2D" "PHD finger proteins|Lysine methyltransferases|SET domain containing" "88|487|1399" 1998-10-14 2013-05-09 2016-02-12 2023-01-20 8085 ENSG00000167548 OTTHUMG00000166524 AF010403 NM_003482 CCDS44873 O14686 "9247308|24240169" MGI:2682319 RGD:2324324 KMT2D 602113 239011 objectId:2691 2.1.1.364 HGNC:7133 "ENST00000301067.12|NM_003482.4" HGNC:7133 -HGNC:18541 KMT2E lysine methyltransferase 2E (inactive) protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "HDCMC04P|SETD5B" MLL5 "myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)|lysine (K)-specific methyltransferase 2E|lysine methyltransferase 2E" "PHD finger proteins|Lysine methyltransferases|SET domain containing" "88|487|1399" 2002-06-07 2013-05-09 2020-03-05 2023-01-20 55904 ENSG00000005483 OTTHUMG00000157403 AF067804 NM_001410908 "CCDS34723|CCDS94170" Q8IZD2 "9218106|7672722|27812132|31079897" MGI:1924825 RGD:1309641 LRG_1404|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1404.xml 608444 objectId:2692 HGNC:18541 "ENST00000311117.8|NM_182931.3" HGNC:18541 +HGNC:18541 KMT2E lysine methyltransferase 2E (inactive) protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "HDCMC04P|SETD5B" MLL5 "myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)|lysine (K)-specific methyltransferase 2E|lysine methyltransferase 2E" "PHD finger proteins|Lysine methyltransferases|SET domain containing" "88|487|1399" 2002-06-07 2013-05-09 2020-03-05 2023-01-20 55904 ENSG00000005483 OTTHUMG00000157403 AF067804 NM_001410908 "CCDS94170|CCDS34723" Q8IZD2 "9218106|7672722|27812132|31079897" MGI:1924825 RGD:1309641 LRG_1404|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1404.xml 608444 objectId:2692 HGNC:18541 "ENST00000311117.8|NM_182931.3" HGNC:18541 HGNC:40845 KMT2E-AS1 KMT2E antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 LOC100216545 KMT2E antisense RNA 1 (head to head) Antisense RNAs 1987 2013-07-23 2018-03-23 2018-03-23 100216545 ENSG00000239569 OTTHUMG00000157280 NR_024586 HGNC:40845 HGNC:29489 KMT5A lysine methyltransferase 5A protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SET8|SET07|PR-Set7" SETD8 "SET domain containing (lysine methyltransferase) 8|lysine (K)-specific methyltransferase 5A" "Lysine methyltransferases|SET domain containing" "487|1399" 2006-02-15 2015-11-05 2016-02-12 2023-01-20 387893 ENSG00000183955 OTTHUMG00000150477 uc001uew.4 AY102937 NM_020382 CCDS9247 Q9NQR1 "15933070|12086618|12121615|18022353" MGI:1915206 RGD:1587560 607240 objectId:2704 HGNC:29489 "ENST00000402868.8|NM_020382.7" HGNC:30088 KMT5AP1 KMT5A pseudogene 1 pseudogene pseudogene Approved 13q11 13q11 SET07p SETD8P1 SET domain containing 8 pseudogene 1 2007-08-17 2018-12-21 2018-12-21 2018-12-21 57108 ENSG00000279730 OTTHUMG00000191380 NG_003193 PGOHUM00000292060 HGNC:30088 HGNC:54727 KMT5AP2 KMT5A pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-18 2019-12-18 100421788 ENSG00000232531 NG_023587 HGNC:54728 KMT5AP3 KMT5A pseudogene 3 pseudogene pseudogene Approved 3q26.2 03q26.2 2019-12-18 2019-12-18 100421819 ENSG00000242583 NG_025767 -HGNC:24283 KMT5B lysine methyltransferase 5B protein-coding gene gene with protein product Approved 11q13.2 11q13.2 CGI-85 Histone-lysine N-methyltransferase SUV420H1 "suppressor of variegation 4-20 homolog 1 (Drosophila)|lysine (K)-specific methyltransferase 5B" Lysine methyltransferases 487 2004-07-13 2015-11-05 2016-02-12 2023-01-20 51111 ENSG00000110066 OTTHUMG00000150484 uc001onm.2 AL512763 NM_017635 "CCDS91518|CCDS91519|CCDS86221|CCDS44660|CCDS31623|CCDS76444" Q4FZB7 "10810093|11401438|18022353" MGI:2444557 RGD:1311637 610881 470574 objectId:2717 2.1.1.362 HGNC:24283 "ENST00000304363.9|NM_017635.5" HGNC:24283 +HGNC:24283 KMT5B lysine methyltransferase 5B protein-coding gene gene with protein product Approved 11q13.2 11q13.2 CGI-85 Histone-lysine N-methyltransferase SUV420H1 "suppressor of variegation 4-20 homolog 1 (Drosophila)|lysine (K)-specific methyltransferase 5B" Lysine methyltransferases 487 2004-07-13 2015-11-05 2016-02-12 2023-01-20 51111 ENSG00000110066 OTTHUMG00000150484 uc001onm.2 AL512763 NM_017635 "CCDS31623|CCDS91518|CCDS44660|CCDS76444|CCDS86221|CCDS91519" Q4FZB7 "10810093|11401438|18022353" MGI:2444557 RGD:1311637 610881 470574 objectId:2717 2.1.1.362 HGNC:24283 "ENST00000304363.9|NM_017635.5" HGNC:24283 HGNC:28405 KMT5C lysine methyltransferase 5C protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC2705 SUV420H2 "suppressor of variegation 4-20 homolog 2 (Drosophila)|lysine (K)-specific methyltransferase 5C" "Lysine methyltransferases|SET domain containing" "487|1399" 2004-07-13 2015-11-05 2016-02-12 2023-01-20 84787 ENSG00000133247 OTTHUMG00000150483 uc002qkj.5 BC005842 NM_032701 CCDS12922 Q86Y97 "19486527|18022353" MGI:2385262 RGD:1305226 613198 objectId:2718 HGNC:28405 "ENST00000255613.8|NM_032701.4" -HGNC:26488 KNCN kinocilin protein-coding gene gene with protein product Approved 1p33 01p33 "FLJ32011|KINO|L5" 2007-06-08 2006-10-26 2023-03-15 148930 ENSG00000162456 OTTHUMG00000007987 uc009vyh.2 AK056573 NM_182516 "CCDS44133|CCDS81316" A6PVL3 15855039 MGI:3614952 RGD:1584061 611455 HGNC:26488 "ENST00000481882.7|NM_001322255.2" -HGNC:29374 KNDC1 kinase non-catalytic C-lobe domain containing 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "KIAA1768|bB439H18.3|FLJ25027|Very-KIND|v-KIND" "RASGEF2|C10orf23" "RasGEF domain family, member 2|kinase non-catalytic C-lobe domain (KIND) containing 1" 2004-03-16 2016-06-21 2023-01-20 85442 ENSG00000171798 OTTHUMG00000019303 uc001llz.2 AK074179 NM_152643 "CCDS91390|CCDS91389|CCDS91388|CCDS7674" Q76NI1 "11214970|28264072" MGI:1923734 RGD:1565261 616237 470576 HGNC:29374 "ENST00000304613.8|NM_152643.8" -HGNC:6383 KNG1 kininogen 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "BK|HMWK" "alpha-2-thiol proteinase inhibitor|bradykinin|high-molecular-weight kininogen" "KNG|BDK|HK" kininogen "Cystatins, type 3|Neuropeptides" "967|1902" 1990-07-26 2004-05-26 2004-05-21 2023-01-20 3827 ENSG00000113889 OTTHUMG00000150348 uc003fqr.4 NM_001102416 "CCDS54695|CCDS3281|CCDS43183" P01042 1733668 "MGI:1097705|MGI:3027157" RGD:2980 LRG_598|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_598.xml 612358 122875 ligandId:639 HGNC:6383 "ENST00000644859.2|NM_001102416.3" HGNC:6383 +HGNC:26488 KNCN kinocilin protein-coding gene gene with protein product Approved 1p33 01p33 "FLJ32011|KINO|L5" 2007-06-08 2006-10-26 2023-03-15 148930 ENSG00000162456 OTTHUMG00000007987 uc009vyh.2 AK056573 NM_182516 "CCDS81316|CCDS44133" A6PVL3 15855039 MGI:3614952 RGD:1584061 611455 HGNC:26488 "ENST00000481882.7|NM_001322255.2" +HGNC:29374 KNDC1 kinase non-catalytic C-lobe domain containing 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "KIAA1768|bB439H18.3|FLJ25027|Very-KIND|v-KIND" "RASGEF2|C10orf23" "RasGEF domain family, member 2|kinase non-catalytic C-lobe domain (KIND) containing 1" 2004-03-16 2016-06-21 2023-01-20 85442 ENSG00000171798 OTTHUMG00000019303 uc001llz.2 AK074179 NM_152643 "CCDS91390|CCDS7674|CCDS91389|CCDS91388" Q76NI1 "11214970|28264072" MGI:1923734 RGD:1565261 616237 470576 HGNC:29374 "ENST00000304613.8|NM_152643.8" +HGNC:6383 KNG1 kininogen 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "BK|HMWK" "alpha-2-thiol proteinase inhibitor|bradykinin|high-molecular-weight kininogen" "KNG|BDK|HK" kininogen "Cystatins, type 3|Neuropeptides" "967|1902" 1990-07-26 2004-05-26 2004-05-21 2023-01-20 3827 ENSG00000113889 OTTHUMG00000150348 uc003fqr.4 NM_001102416 "CCDS3281|CCDS43183|CCDS54695" P01042 1733668 "MGI:1097705|MGI:3027157" RGD:2980 LRG_598|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_598.xml 612358 122875 ligandId:639 HGNC:6383 "ENST00000644859.2|NM_001102416.3" HGNC:6383 HGNC:24054 KNL1 kinetochore scaffold 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "D40|AF15Q14|CT29|KIAA1570|hKNL-1|hSpc105|PPP1R55|Spc7" "cancer/testis antigen 29|kinetochore null 1 homolog (C. elegans)|blinkin, bub-linking kinetochore protein|protein phosphatase 1, regulatory subunit 55" "MCPH4|CASC5" "microcephaly, primary autosomal recessive 4|cancer susceptibility candidate 5" "Protein phosphatase 1 regulatory subunits|KNL1 complex" "694|1575" 2005-04-05 2016-06-13 2016-06-13 2023-01-20 57082 ENSG00000137812 OTTHUMG00000166532 uc010bbs.2 AF173994 NM_144508 "CCDS42023|CCDS42024" Q8NG31 "10980622|10780384|18045986" MGI:1923714 RGD:1307498 KNL1 609173 315787 HGNC:24054 "ENST00000399668.7|NM_144508.5" HGNC:24054 HGNC:34404 KNOP1 lysine rich nucleolar protein 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "101F10.1|FAM191A|TSG118" "family with sequence similarity 191, member A|testis-specific gene 118" C16orf88 chromosome 16 open reading frame 88 2008-07-11 2013-03-12 2016-06-06 2023-01-20 400506 ENSG00000103550 OTTHUMG00000177249 uc002dgq.4 BC047010 NM_001012991 CCDS42127 Q1ED39 MGI:1913606 RGD:1565096 HGNC:34404 "ENST00000219837.12|NM_001012991.3" HGNC:48919 KNOP1P1 lysine rich nucleolar protein 1 pseudogene 1 pseudogene pseudogene Approved 12p12.1 12p12.1 2013-07-05 2016-06-06 2016-06-06 100129937 ENSG00000256852 OTTHUMG00000169059 NG_029610 PGOHUM00000251017 HGNC:48919 @@ -14205,7 +14206,7 @@ HGNC:48920 KNOP1P2 lysine rich nucleolar protein 1 pseudogene 2 pseudogene pseud HGNC:48921 KNOP1P3 lysine rich nucleolar protein 1 pseudogene 3 pseudogene pseudogene Approved 2p16.3 02p16.3 2013-07-05 2016-06-06 2016-06-06 100128029 ENSG00000224344 OTTHUMG00000102135 NG_021563 PGOHUM00000240640 HGNC:48921 HGNC:48922 KNOP1P4 lysine rich nucleolar protein 1 pseudogene 4 pseudogene pseudogene Approved 6q13 06q13 2013-07-05 2016-06-06 2016-06-06 100420843 ENSG00000232422 OTTHUMG00000015016 NG_047170 PGOHUM00000243671 HGNC:48922 HGNC:48923 KNOP1P5 lysine rich nucleolar protein 1 pseudogene 5 pseudogene pseudogene Approved 8q24.13 08q24.13 2013-07-05 2016-06-06 2016-06-06 100130158 ENSG00000250563 OTTHUMG00000160537 NG_022436 PGOHUM00000249796 HGNC:48923 -HGNC:30767 KNSTRN kinetochore localized astrin (SPAG5) binding protein protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "FLJ14502|SKAP|kinastrin|TRAF4AF1" "small kinetochore-associated protein|kinetochore-localized astrin-binding protein|TRAF4 associated factor 1" C15orf23 "chromosome 15 open reading frame 23|kinetochore localized astrin/SPAG5 binding protein" 2004-06-25 2012-12-04 2018-02-23 2023-01-20 90417 ENSG00000128944 OTTHUMG00000172454 uc001zll.4 AK027408 NM_001142761 "CCDS45226|CCDS42021|CCDS45227" Q9Y448 25194279 MGI:1289298 RGD:1303240 614718 HGNC:30767 "ENST00000249776.13|NM_033286.4" +HGNC:30767 KNSTRN kinetochore localized astrin (SPAG5) binding protein protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "FLJ14502|SKAP|kinastrin|TRAF4AF1" "small kinetochore-associated protein|kinetochore-localized astrin-binding protein|TRAF4 associated factor 1" C15orf23 "chromosome 15 open reading frame 23|kinetochore localized astrin/SPAG5 binding protein" 2004-06-25 2012-12-04 2018-02-23 2023-01-20 90417 ENSG00000128944 OTTHUMG00000172454 uc001zll.4 AK027408 NM_001142761 "CCDS45226|CCDS45227|CCDS42021" Q9Y448 25194279 MGI:1289298 RGD:1303240 614718 HGNC:30767 "ENST00000249776.13|NM_033286.4" HGNC:17255 KNTC1 kinetochore associated 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA0166|ROD" rough deal homolog (Drosophila) RZZ complex 1933 2001-12-19 2023-01-20 9735 ENSG00000184445 OTTHUMG00000168861 uc001ucv.4 NM_014708 CCDS45002 P50748 "11146660|11590237" MGI:2673709 RGD:1307905 607363 HGNC:17255 "ENST00000333479.12|NM_014708.6" HGNC:29468 KPLCE KPRP N-terminal and LCE C-terminal like protein protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "LEP7|XP32" skin-specific protein 32 C1orf68 chromosome 1 open reading frame 68 2005-05-18 2023-03-13 2023-03-13 2023-03-13 100129271 ENSG00000198854 OTTHUMG00000012401 uc010pdu.3 AF005081 NM_001024679 CCDS44226 Q5T750 "11698679|25411189" MGI:1913783 RGD:1585456 HGNC:29468 "ENST00000368775.3|NM_001024679.3" HGNC:6394 KPNA1 karyopherin subunit alpha 1 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "SRP1|RCH2|NPI-1|IPOA5" importin alpha 5 "karyopherin alpha 1 (importin alpha 5)|karyopherin alpha 1" "Armadillo repeat containing|Importins" "409|596" 1997-03-19 2016-02-01 2023-01-20 3836 ENSG00000114030 OTTHUMG00000159487 uc003efe.3 S75295 NM_002264 CCDS3013 P52294 8052633 MGI:103560 RGD:735064 600686 470578 HGNC:6394 "ENST00000344337.11|NM_002264.4" @@ -14216,7 +14217,7 @@ HGNC:52870 KPNA2P3 karyopherin subunit alpha 2 pseudogene 3 pseudogene pseudogen HGNC:6396 KPNA3 karyopherin subunit alpha 3 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "SRP1gamma|SRP4|hSRP1|IPOA4" "importin alpha 4|importin subunit alpha-4" "karyopherin alpha 3 (importin alpha 4)|karyopherin alpha 3" "Armadillo repeat containing|Importins" "409|596" 1997-03-19 2016-02-01 2023-01-20 3839 ENSG00000102753 OTTHUMG00000016922 uc001vdj.2 D89618 NM_002267 CCDS9421 O00505 "9154134|9435235" MGI:1100863 RGD:1311339 601892 HGNC:6396 "ENST00000261667.8|NM_002267.4" HGNC:6397 KPNA4 karyopherin subunit alpha 4 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "QIP1|SRP3|IPOA3|MGC12217|MGC26703" importin alpha 3 "karyopherin alpha 4 (importin alpha 3)|karyopherin alpha 4" "Armadillo repeat containing|Importins" "409|596" 1998-08-20 2016-02-01 2023-01-20 3840 ENSG00000186432 OTTHUMG00000159033 uc003fdn.3 AB002533 NM_002268 CCDS3191 O00629 "9168958|9395085" MGI:1100848 RGD:1311483 602970 HGNC:6397 "ENST00000334256.9|NM_002268.5" HGNC:54976 KPNA4P1 KPNA4 pseudogene 1 pseudogene pseudogene Approved Xq11.2 Xq11.2 2020-05-13 2020-05-13 100421109 ENSG00000213754 NG_026710 -HGNC:6398 KPNA5 karyopherin subunit alpha 5 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "SRP6|IPOA6" importin alpha 6 "karyopherin alpha 5 (importin alpha 6)|karyopherin alpha 5" "Armadillo repeat containing|Importins" "409|596" 1998-08-24 2016-02-01 2023-01-20 3841 ENSG00000196911 OTTHUMG00000015448 uc003pxh.4 AF005361 NM_002269 "CCDS5111|CCDS93992|CCDS93993" O15131 9395085 RGD:1561324 604545 HGNC:6398 "ENST00000368564.7|NM_001366306.2" +HGNC:6398 KPNA5 karyopherin subunit alpha 5 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "SRP6|IPOA6" importin alpha 6 "karyopherin alpha 5 (importin alpha 6)|karyopherin alpha 5" "Armadillo repeat containing|Importins" "409|596" 1998-08-24 2016-02-01 2023-01-20 3841 ENSG00000196911 OTTHUMG00000015448 uc003pxh.4 AF005361 NM_002269 "CCDS93992|CCDS93993|CCDS5111" O15131 9395085 RGD:1561324 604545 HGNC:6398 "ENST00000368564.7|NM_001366306.2" HGNC:6399 KPNA6 karyopherin subunit alpha 6 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "IPOA7|KPNA7|MGC17918|FLJ11249" importin alpha 7 "karyopherin alpha 6 (importin alpha 7)|karyopherin alpha 6" "Armadillo repeat containing|Importins" "409|596" 1999-12-14 2016-02-01 2023-01-20 23633 ENSG00000025800 OTTHUMG00000004333 uc001bug.4 AF060543 NM_012316 CCDS352 O60684 10523667 MGI:1100836 RGD:1306570 610563 HGNC:6399 "ENST00000373625.8|NM_012316.5" HGNC:21839 KPNA7 karyopherin subunit alpha 7 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 IPOA8 importin alpha 8 "karyopherin alpha 7 (importin alpha 8)|karyopherin alpha 7" "Armadillo repeat containing|Importins" "409|596" 2009-04-07 2016-02-01 2023-01-20 402569 ENSG00000185467 OTTHUMG00000154412 uc010lft.3 NM_001145715 CCDS47651 A9QM74 MGI:2141165 RGD:1594749 614107 404154 HGNC:21839 "ENST00000327442.7|NM_001145715.3" HGNC:21839 HGNC:6400 KPNB1 karyopherin subunit beta 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "NTF97|IPOB|MGC2155|MGC2156|MGC2157|IMB1|Impnb|IPO1" importin 1 karyopherin (importin) beta 1 "Armadillo repeat containing|Importins" "409|596" 1997-04-21 2016-02-01 2023-01-20 3837 ENSG00000108424 OTTHUMG00000036957 uc002ilt.3 L39793 NM_002265 "CCDS11513|CCDS62228" Q14974 "7615630|7627554" MGI:107532 RGD:2909 602738 HGNC:6400 "ENST00000290158.9|NM_002265.6" @@ -14227,17 +14228,17 @@ HGNC:6404 KPTN kaptin, actin binding protein protein-coding gene gene with prote HGNC:6407 KRAS KRAS proto-oncogene, GTPase protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "KRAS1|K-Ras4B" KRAS2 "v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog|v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog|Kirsten rat sarcoma viral oncogene homolog" RAS type GTPase family 389 1988-06-02 2005-01-24 2016-05-10 2023-01-20 3845 ENSG00000133703 OTTHUMG00000171193 uc001rgp.3 BC010502 NM_033360 "CCDS8702|CCDS8703" P01116 MGI:96680 RGD:2981 LRG_344|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_344.xml KRAS 190070 122879 objectId:2824 HGNC:6407 "ENST00000311936.8|NM_004985.5" HGNC:6407 HGNC:6406 KRASP1 KRAS proto-oncogene, GTPase pseudogene 1 pseudogene pseudogene Approved 6p12.1 06p12.1 KRAS1P v-Ki-ras1 Kirsten rat sarcoma 1 viral oncogene homolog, processed pseudogene 2001-06-22 2010-07-21 2016-05-12 2016-11-30 3844 ENSG00000220635 OTTHUMG00000014897 K01912 NG_001154 6308466 PGOHUM00000250209 KRASP1 HGNC:6406 HGNC:22228 KRBA1 KRAB-A domain containing 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 KIAA1862 KRAB A domain containing 1 2006-08-14 2006-08-15 2023-01-20 84626 ENSG00000133619 OTTHUMG00000157886 uc033aph.2 AB058765 NM_032534 "CCDS78285|CCDS94228|CCDS75674" A5PL33 MGI:1925077 RGD:1306967 HGNC:22228 "ENST00000496259.6|NM_001290187.2" -HGNC:26989 KRBA2 KRAB-A domain containing 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KRAB A domain containing 2 2006-08-15 2006-08-15 2023-01-20 124751 ENSG00000184619 OTTHUMG00000132864 uc002glf.1 BC024723 NM_213597 "CCDS76951|CCDS11141" Q6ZNG9 23550032 HGNC:26989 "ENST00000396267.3|NM_001304947.3" +HGNC:26989 KRBA2 KRAB-A domain containing 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KRAB A domain containing 2 2006-08-15 2006-08-15 2023-01-20 124751 ENSG00000184619 OTTHUMG00000132864 uc002glf.1 BC024723 NM_213597 "CCDS11141|CCDS76951" Q6ZNG9 23550032 HGNC:26989 "ENST00000396267.3|NM_001304947.3" HGNC:38708 KRBOX1 KRAB box domain containing 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 2010-07-29 2010-07-29 2023-01-20 100506243 ENSG00000240747 OTTHUMG00000186062 uc062ish.1 NM_001205272 CCDS54572 C9JBD0 RGD:2321744 HGNC:38708 "ENST00000383748.9|NM_001205272.2" HGNC:42942 KRBOX1-AS1 KRBOX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 FLJ32776 KRBOX1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-07 2012-08-15 2012-10-12 100506275 ENSG00000206552 OTTHUMG00000156447 uc062ist.1 AK057338 XR_110049 KRBOX1-AS1 HGNC:42942 -HGNC:26007 KRBOX4 KRAB box domain containing 4 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 FLJ20344 hypothetical protein FLJ20344 ZNF673 "zinc finger protein 673|zinc finger family member 673" 2005-03-26 2013-01-08 2013-01-08 2023-01-20 55634 ENSG00000147121 OTTHUMG00000021421 uc004dgm.5 NM_017776 "CCDS48098|CCDS14267|CCDS48097" Q5JUW0 11944989 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KRBOX4 300585 470580 HGNC:26007 "ENST00000344302.9|NM_001129898.2" -HGNC:26987 KRBOX5 KRAB box domain containing 5 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 ZNF720 zinc finger protein 720 2006-01-17 2021-08-10 2021-08-10 2023-01-20 124411 ENSG00000197302 OTTHUMG00000167515 uc002ecn.5 AK128671 NM_001004300 "CCDS45473|CCDS92144|CCDS92145" Q7Z2F6 "16606703|20081217" MGI:3645096 RGD:1592570 HGNC:26987 "ENST00000316491.14|NM_001130913.2" +HGNC:26007 KRBOX4 KRAB box domain containing 4 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 FLJ20344 hypothetical protein FLJ20344 ZNF673 "zinc finger protein 673|zinc finger family member 673" 2005-03-26 2013-01-08 2013-01-08 2023-01-20 55634 ENSG00000147121 OTTHUMG00000021421 uc004dgm.5 NM_017776 "CCDS14267|CCDS48097|CCDS48098" Q5JUW0 11944989 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KRBOX4 300585 470580 HGNC:26007 "ENST00000344302.9|NM_001129898.2" +HGNC:26987 KRBOX5 KRAB box domain containing 5 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 ZNF720 zinc finger protein 720 2006-01-17 2021-08-10 2021-08-10 2023-01-20 124411 ENSG00000197302 OTTHUMG00000167515 uc002ecn.5 AK128671 NM_001004300 "CCDS45473|CCDS92145|CCDS92144" Q7Z2F6 "16606703|20081217" MGI:3645096 RGD:1592570 HGNC:26987 "ENST00000316491.14|NM_001130913.2" HGNC:34505 KRBOX5P1 KRBOX5 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 ZNF720P1 zinc finger protein 720 pseudogene 1 2008-08-06 2021-08-10 2021-08-10 2021-08-10 342426 ENSG00000260010 OTTHUMG00000176627 NG_008699 PGOHUM00000259049 HGNC:34505 HGNC:28039 KRCC1 lysine rich coiled-coil 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 FLJ22333 2006-08-15 2016-06-06 2023-01-20 51315 ENSG00000172086 OTTHUMG00000130315 uc002sso.1 AF208845 NM_016618 CCDS2000 Q9NPI7 12477932 MGI:1889377 RGD:1306495 HGNC:28039 "ENST00000347055.4|NM_016618.3" HGNC:17550 KREMEN1 kringle containing transmembrane protein 1 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 KRM1 KREMEN kringle containing transmembrane protein 2002-04-22 2002-11-15 2002-11-13 2023-01-20 83999 ENSG00000183762 OTTHUMG00000030987 uc011akm.2 AB059618 NM_001039570 Q96MU8 11267660 MGI:1933988 RGD:620789 609898 ligandId:3702 HGNC:17550 "ENST00000400335.9|NM_001039570.3" HGNC:17550 -HGNC:18797 KREMEN2 kringle containing transmembrane protein 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MGC10791|KRM2" 2002-06-20 2023-01-20 79412 ENSG00000131650 OTTHUMG00000128976 uc002csg.4 BC003533 NM_145347 "CCDS10483|CCDS58413|CCDS58412|CCDS10484" Q8NCW0 12050670 MGI:1920266 RGD:1310795 609899 ligandId:3703 HGNC:18797 "ENST00000303746.10|NM_172229.3" +HGNC:18797 KREMEN2 kringle containing transmembrane protein 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MGC10791|KRM2" 2002-06-20 2023-01-20 79412 ENSG00000131650 OTTHUMG00000128976 uc002csg.4 BC003533 NM_145347 "CCDS58412|CCDS10483|CCDS10484|CCDS58413" Q8NCW0 12050670 MGI:1920266 RGD:1310795 609899 ligandId:3703 HGNC:18797 "ENST00000303746.10|NM_172229.3" HGNC:25769 KRI1 KRI1 homolog protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ12949 KRI1 homolog (S. cerevisiae) 2007-08-02 2015-07-03 2023-03-15 65095 ENSG00000129347 OTTHUMG00000150343 uc002moy.2 NM_023008 CCDS12242 Q8N9T8 12878157 MGI:2384899 RGD:1588903 HGNC:25769 "ENST00000312962.12|NM_023008.5" -HGNC:1573 KRIT1 KRIT1 ankyrin repeat containing protein-coding gene gene with protein product Approved 7q21.2 07q21.2 CAM Krev interaction trapped 1 CCM1 "cerebral cavernous malformations 1|KRIT1, ankyrin repeat containing" "Ankyrin repeat domain containing|FERM domain containing|MicroRNA protein coding host genes|CCM adhesion complex" "403|1293|1691|1940" 1995-06-02 2005-03-17 2019-01-25 2023-01-20 889 ENSG00000001631 OTTHUMG00000131187 uc003ulu.1 AJ294850 NM_001013406 "CCDS5624|CCDS34679" O00522 "7604043|11342228" MGI:1930618 RGD:1305929 LRG_650|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_650.xml 604214 122883 HGNC:1573 "ENST00000394505.7|NM_194454.3" HGNC:1573 +HGNC:1573 KRIT1 KRIT1 ankyrin repeat containing protein-coding gene gene with protein product Approved 7q21.2 07q21.2 CAM Krev interaction trapped 1 CCM1 "cerebral cavernous malformations 1|KRIT1, ankyrin repeat containing" "Ankyrin repeat domain containing|FERM domain containing|MicroRNA protein coding host genes|CCM adhesion complex" "403|1293|1691|1940" 1995-06-02 2005-03-17 2019-01-25 2023-01-20 889 ENSG00000001631 OTTHUMG00000131187 uc003ulu.1 AJ294850 NM_001013406 "CCDS34679|CCDS5624" O00522 "7604043|11342228" MGI:1930618 RGD:1305929 LRG_650|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_650.xml 604214 122883 HGNC:1573 "ENST00000394505.7|NM_194454.3" HGNC:1573 HGNC:5176 KRR1 KRR1 small subunit processome component homolog protein-coding gene gene with protein product Approved 12q21.2 12q21.2 RIP-1 HRB2 "HIV-1 rev binding protein 2|KRR1, small subunit (SSU) processome component, homolog (yeast)|KRR1, small subunit processome component homolog" SSU processome 1484 1999-12-09 2006-05-18 2019-01-25 2023-01-20 11103 ENSG00000111615 OTTHUMG00000169759 uc001sxt.4 U55766 NM_007043 CCDS9012 Q13601 "7505766|11027267|11359931|8675026" MGI:1289274 RGD:1306183 612817 HGNC:5176 "ENST00000229214.9|NM_007043.7" HGNC:39580 KRR1P1 KRR1 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 "KRR1, small subunit (SSU) processome component, homolog (yeast) pseudogene 1|KRR1, small subunit processome component homolog pseudogene 1" 2011-03-15 2019-01-25 2019-01-25 100422486 ENSG00000237672 OTTHUMG00000016505 NG_024834 PGOHUM00000248314 HGNC:39580 HGNC:6412 KRT1 keratin 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KRT1A EHK1 "epidermolytic hyperkeratosis 1|keratin 1, type II" Keratins, type II 609 1991-09-12 2016-03-09 2023-01-20 3848 ENSG00000167768 OTTHUMG00000169749 uc001sau.1 X69725 NM_006121 CCDS8836 P04264 "2461420|2470667|16831889" MGI:96698 RGD:1359664 139350 122887 HGNC:6412 "ENST00000252244.3|NM_006121.4" HGNC:6412 @@ -14402,7 +14403,7 @@ HGNC:33424 KRT19P3 keratin 19 pseudogene 3 pseudogene pseudogene Approved 4q25 0 HGNC:45073 KRT19P4 keratin 19 pseudogene 4 pseudogene pseudogene Approved 10q21.3 10q21.3 2013-02-07 2013-02-07 100128041 ENSG00000234102 OTTHUMG00000018347 NG_022181 PGOHUM00000238825 HGNC:45073 HGNC:45076 KRT19P6 keratin 19 pseudogene 6 pseudogene pseudogene Approved 4q22.1 04q22.1 2013-02-07 2013-02-07 106480807 ENSG00000249891 OTTHUMG00000161034 NG_044217 PGOHUM00000245622 HGNC:45076 HGNC:20412 KRT20 keratin 20 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "CK20|K20|MGC35423" keratin 20, type I Keratins, type I 608 2003-02-04 2016-03-09 2023-01-20 54474 ENSG00000171431 OTTHUMG00000133366 uc002hvl.4 BC031559 NM_019010 CCDS11379 P35900 "8359595|12515621|16831889" MGI:1914059 RGD:628646 608218 HGNC:20412 "ENST00000167588.4|NM_019010.3" HGNC:20412 -HGNC:6438 KRT23 keratin 23 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "K23|DKFZP434G032|HAIK1|CK23|MGC26158" "keratin 23 (histone deacetylase inducible)|keratin 23, type I" Keratins, type I 608 2000-07-31 2016-03-09 2023-03-15 25984 ENSG00000108244 OTTHUMG00000133376 uc002hvm.3 AF102848 NM_001282433 "CCDS62182|CCDS11380" Q9C075 "11135429|16831889" MGI:2148866 RGD:1308838 606194 HGNC:6438 "ENST00000209718.8|NM_015515.5" +HGNC:6438 KRT23 keratin 23 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "K23|DKFZP434G032|HAIK1|CK23|MGC26158" "keratin 23 (histone deacetylase inducible)|keratin 23, type I" Keratins, type I 608 2000-07-31 2016-03-09 2023-03-15 25984 ENSG00000108244 OTTHUMG00000133376 uc002hvm.3 AF102848 NM_001282433 "CCDS11380|CCDS62182" Q9C075 "11135429|16831889" MGI:2148866 RGD:1308838 606194 HGNC:6438 "ENST00000209718.8|NM_015515.5" HGNC:18527 KRT24 keratin 24 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "FLJ20261|MGC138169|MGC138173" keratin 24, type I Keratins, type I 608 2002-04-26 2016-03-09 2023-01-20 192666 ENSG00000167916 OTTHUMG00000133372 uc002hvd.3 NM_019016 CCDS11372 Q2M2I5 16831889 MGI:1922956 RGD:1303157 607742 HGNC:18527 "ENST00000264651.3|NM_019016.3" HGNC:30839 KRT25 keratin 25 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KRT25A "keratin 25A|keratin 25, type I" Keratins, type I 608 2004-02-03 2006-07-17 2016-03-09 2023-01-20 147183 ENSG00000204897 OTTHUMG00000133373 uc002hve.3 AK129503 NM_181534 CCDS11373 Q7Z3Z0 16831889 MGI:1918060 RGD:1359097 616646 448847 HGNC:30839 "ENST00000312150.5|NM_181534.4" HGNC:30839 HGNC:30840 KRT26 keratin 26 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KRT25B "keratin 25B|keratin 26, type I" Keratins, type I 608 2004-02-03 2006-07-17 2016-03-09 2023-01-20 353288 ENSG00000186393 OTTHUMG00000133370 uc002hvf.4 AJ564205 NM_181539 CCDS11374 Q7Z3Y9 16831889 MGI:2444913 RGD:1303322 616675 HGNC:30840 "ENST00000335552.5|NM_181539.5" @@ -14430,14 +14431,14 @@ HGNC:28929 KRT74 keratin 74 protein-coding gene gene with protein product Approv HGNC:24431 KRT75 keratin 75 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 K6HF keratin 75, type II Keratins, type II 609 2006-07-17 2016-03-09 2023-01-20 9119 ENSG00000170454 OTTHUMG00000169592 uc001saj.3 Y19212 NM_004693 CCDS8827 O95678 "9856802|10692104|16831889" MGI:1923500 RGD:1359576 609025 HGNC:24431 "ENST00000252245.6|NM_004693.3" HGNC:24430 KRT76 keratin 76 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HUMCYT2A|KRT2B|KRT2P" keratin 76, type II Keratins, type II 609 2006-07-17 2016-03-09 2023-01-20 51350 ENSG00000185069 OTTHUMG00000169797 uc001sax.3 M99063 NM_015848 CCDS8838 Q01546 "1282112|16831889" MGI:1924305 RGD:1303078 616671 HGNC:24430 "ENST00000332411.2|NM_015848.4" HGNC:20411 KRT77 keratin 77 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KRT1B "keratin 1B|keratin 77, type II" Keratins, type II 609 2003-02-04 2006-07-17 2016-03-09 2023-01-20 374454 ENSG00000189182 OTTHUMG00000169450 uc001saw.4 BK000975 NM_175078 CCDS8837 Q7Z794 "11683385|16831889" MGI:3588209 RGD:1302968 611158 HGNC:20411 "ENST00000341809.8|NM_175078.3" -HGNC:28926 KRT78 keratin 78 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 K5B keratin 78, type II Keratins, type II 609 2006-07-17 2016-03-09 2023-01-20 196374 ENSG00000170423 OTTHUMG00000169880 uc001sbc.1 AK096419 NM_173352 "CCDS8840|CCDS73473" Q8N1N4 16831889 MGI:1917529 RGD:1591341 611159 HGNC:28926 "ENST00000304620.5|NM_173352.4" +HGNC:28926 KRT78 keratin 78 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 K5B keratin 78, type II Keratins, type II 609 2006-07-17 2016-03-09 2023-01-20 196374 ENSG00000170423 OTTHUMG00000169880 uc001sbc.1 AK096419 NM_173352 "CCDS73473|CCDS8840" Q8N1N4 16831889 MGI:1917529 RGD:1591341 611159 HGNC:28926 "ENST00000304620.5|NM_173352.4" HGNC:28930 KRT79 keratin 79 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "K6L|KRT6L" keratin 6-like keratin 79, type II Keratins, type II 609 2007-07-03 2016-03-09 2023-01-20 338785 ENSG00000185640 OTTHUMG00000169878 uc001sbb.4 AJ564105 NM_175834 CCDS8839 Q5XKE5 11683385 MGI:2385030 RGD:1583372 611160 HGNC:28930 "ENST00000330553.6|NM_175834.3" -HGNC:27056 KRT80 keratin 80 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KB20 keratin 80, type II Keratins, type II 609 2006-07-17 2016-03-09 2023-01-20 144501 ENSG00000167767 OTTHUMG00000150193 uc001rzx.3 BX537567 NM_182507 "CCDS41784|CCDS8821" Q6KB66 16831889 MGI:1921377 RGD:1359177 611161 HGNC:27056 "ENST00000394815.3|NM_182507.3" +HGNC:27056 KRT80 keratin 80 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KB20 keratin 80, type II Keratins, type II 609 2006-07-17 2016-03-09 2023-01-20 144501 ENSG00000167767 OTTHUMG00000150193 uc001rzx.3 BX537567 NM_182507 "CCDS8821|CCDS41784" Q6KB66 16831889 MGI:1921377 RGD:1359177 611161 HGNC:27056 "ENST00000394815.3|NM_182507.3" HGNC:6458 KRT81 keratin 81 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-1 hard keratin type II 1 KRTHB1 "keratin, hair, basic, 1|keratin 81, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2023-01-20 3887 ENSG00000205426 OTTHUMG00000167574 uc001sab.4 X81420 NM_002281 CCDS31805 Q14533 "7556444|16831889" MGI:1928858 RGD:1303316 602153 122928 HGNC:6458 "ENST00000327741.9|NM_002281.4" HGNC:6458 HGNC:6459 KRT82 keratin 82 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-2 hard keratin type II 2 KRTHB2 "keratin, hair, basic, 2|keratin 82, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2023-01-20 3888 ENSG00000161850 OTTHUMG00000169636 uc001sai.2 Y19207 NM_033033 CCDS8826 Q9NSB4 "2431943|16831889" MGI:2149248 RGD:1359276 601078 HGNC:6459 "ENST00000257974.3|NM_033033.4" HGNC:6460 KRT83 keratin 83 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-3 hard keratin type II KRTHB3 "keratin, hair, basic, 3|keratin 83, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2023-01-20 3889 ENSG00000170523 OTTHUMG00000169632 uc001saf.2 X99141 NM_002282 CCDS8823 P78385 "9084137|16831889" "MGI:3665486|MGI:3690448" RGD:1303024 LRG_1302|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1302.xml 602765 122932 HGNC:6460 "ENST00000293670.3|NM_002282.3" HGNC:6460 HGNC:6461 KRT84 keratin 84 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-4 hard keratin type II 4 KRTHB4 "keratin, hair, basic, 4|keratin 84, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2023-01-20 3890 ENSG00000161849 OTTHUMG00000169634 uc001sah.2 Y19209 NM_033045 CCDS8825 Q9NSB2 "2431943|16831889" MGI:96700 RGD:1359402 602766 HGNC:6461 "ENST00000257951.3|NM_033045.4" -HGNC:6462 KRT85 keratin 85 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-5 hard keratin type II KRTHB5 "keratin, hair, basic, 5|keratin 85, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2023-01-20 3891 ENSG00000135443 OTTHUMG00000169633 uc001sag.4 X99140 NM_002283 "CCDS8824|CCDS73472" P78386 "9084137|16831889" MGI:1859268 RGD:1303149 602767 122936 HGNC:6462 "ENST00000257901.7|NM_002283.4" HGNC:6462 +HGNC:6462 KRT85 keratin 85 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-5 hard keratin type II KRTHB5 "keratin, hair, basic, 5|keratin 85, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2023-01-20 3891 ENSG00000135443 OTTHUMG00000169633 uc001sag.4 X99140 NM_002283 "CCDS73472|CCDS8824" P78386 "9084137|16831889" MGI:1859268 RGD:1303149 602767 122936 HGNC:6462 "ENST00000257901.7|NM_002283.4" HGNC:6462 HGNC:6463 KRT86 keratin 86 protein-coding gene gene with protein product Approved 12q13 12q13 "MNX|Hb6" hard keratin type II 6 KRTHB6 "keratin, hair, basic, 6 (monilethrix)|keratin 86, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-10 2023-01-20 3892 ENSG00000170442 OTTHUMG00000184153 uc009zmg.3 X99142 NM_002284 CCDS41785 O43790 "9241275|16831889" MGI:109362 RGD:1303215 601928 122940 HGNC:6463 "ENST00000423955.7|NM_001320198.2" HGNC:6463 HGNC:30198 KRT87P keratin 87, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 psihHbD "KRTHBP4|KRT121P" "keratin, hair, basic pseudogene 4|keratin 121 pseudogene|keratin 87 pseudogene" 2004-02-03 2014-01-24 2021-08-26 2021-08-26 85349 ENSG00000135477 OTTHUMG00000165548 Y19216 NG_000944 A6NCN2 "10692104|16831889" MGI:3665486 HGNC:30198 HGNC:30197 KRT88P keratin 88, pseudogene pseudogene pseudogene Approved 12q13 12q13 HBC "KRTHBP3|KRT122P" "keratin, hair, basic pseudogene 3|keratin 122 pseudogene|keratin 88 pseudogene" 2004-02-03 2014-01-24 2022-03-23 2022-03-23 85348 ENSG00000284883 Y19215 NG_000943 "10692104|16831889" MGI:1913572 RGD:1305207 HGNC:30197 @@ -14566,7 +14567,7 @@ HGNC:34211 KRTAP29-1 keratin associated like protein 29-1 protein-coding gene ge HGNC:28942 KRTCAP2 keratinocyte associated protein 2 protein-coding gene gene with protein product Approved 1q22 01q22 KCP2 Oligosaccharyltransferase complex subunits 445 2004-02-05 2023-01-20 200185 ENSG00000163463 OTTHUMG00000013904 uc001fho.4 AY157577 NM_173852 CCDS1096 Q8N6L1 "15835887|22266900" MGI:1913309 RGD:1308413 619029 HGNC:28942 "ENST00000295682.6|NM_173852.4" HGNC:54589 KRTCAP2P1 KRTCAP2 pseudogene 1 pseudogene pseudogene Approved 2p21 02p21 2019-10-16 2019-10-16 730043 ENSG00000231848 NG_032053 HGNC:28943 KRTCAP3 keratinocyte associated protein 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 KCP3 2004-02-05 2023-01-20 200634 ENSG00000157992 OTTHUMG00000097782 uc021vfd.1 AY157576 NM_173853 CCDS1754 Q53RY4 MGI:1917065 RGD:1596516 619261 HGNC:28943 "ENST00000288873.7|NM_173853.4" -HGNC:16313 KRTDAP keratinocyte differentiation associated protein protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "KDAP|UNQ467" 2001-10-03 2016-02-15 2023-01-20 388533 ENSG00000188508 OTTHUMG00000155449 uc002nzh.4 AA297512 NM_001244847 "CCDS12462|CCDS59377" P60985 11054531 MGI:1928282 RGD:71086 617212 HGNC:16313 "ENST00000338897.4|NM_207392.3" +HGNC:16313 KRTDAP keratinocyte differentiation associated protein protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "KDAP|UNQ467" 2001-10-03 2016-02-15 2023-01-20 388533 ENSG00000188508 OTTHUMG00000155449 uc002nzh.4 AA297512 NM_001244847 "CCDS59377|CCDS12462" P60985 11054531 MGI:1928282 RGD:71086 617212 HGNC:16313 "ENST00000338897.4|NM_207392.3" HGNC:6465 KSR1 kinase suppressor of ras 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 RSU2 KSR kinase suppressor of ras RAF family 1157 2000-03-29 2005-12-14 2005-12-14 2023-01-20 8844 ENSG00000141068 OTTHUMG00000132051 uc002gzo.2 U43586 NM_014238 "CCDS58532|CCDS92281" Q8IVT5 8521512 MGI:105051 RGD:1308105 601132 objectId:2051 HGNC:6465 "ENST00000644974.2|NM_001394583.1" HGNC:44977 KSR1P1 kinase suppressor of ras 1 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 2012-12-20 2012-12-20 106479050 ENSG00000229485 OTTHUMG00000018006 NG_044498 PGOHUM00000258466 HGNC:44977 HGNC:18610 KSR2 kinase suppressor of ras 2 protein-coding gene gene with protein product Approved 12q24.22-q24.23 12q24.22-q24.23 FLJ25965 RAF family 1157 2005-01-18 2023-01-20 283455 ENSG00000171435 OTTHUMG00000169020 uc001two.2 AY345972 NM_173598 CCDS61250 Q6VAB6 12471243 MGI:3610315 RGD:1562674 610737 objectId:2052 HGNC:18610 "ENST00000339824.7|NM_173598.6" @@ -14576,9 +14577,9 @@ HGNC:19842 KTN1-AS1 KTN1 antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:28420 KXD1 KxDL motif containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ25480|MGC2749|KXDL|BORCS4" BLOC-1 related complex subunit 4 C19orf50 chromosome 19 open reading frame 50 BLOC-1 related complex subunits 1048 2006-08-08 2011-11-24 2011-11-24 2023-01-20 79036 ENSG00000105700 OTTHUMG00000183107 uc021uqq.1 AK098346 NM_024069 CCDS12381 Q9BQD3 21159114 MGI:1922870 RGD:1562866 615178 HGNC:28420 "ENST00000222307.9|NM_024069.4" HGNC:56662 KXD1-AS1 KXD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 AC005253.1 Antisense RNAs 1987 2022-12-08 2022-12-08 128193285 ENSG00000268983 36248980 HGNC:26576 KY kyphoscoliosis peptidase protein-coding gene gene with protein product Approved 3q22.2 03q22.2 FLJ33207 2004-06-25 2023-01-20 339855 ENSG00000174611 OTTHUMG00000159788 uc010hty.4 AK090526 NM_178554 "CCDS46920|CCDS93393" Q8NBH2 MGI:96709 RGD:1305407 605739 HGNC:26576 "ENST00000423778.7|NM_178554.6" HGNC:26576 -HGNC:1564 KYAT1 kynurenine aminotransferase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KATI|GTK" "glutamine transaminase K|kynurenine aminotransferase I|Glutamine--phenylpyruvate transaminase" CCBL1 "cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)|cysteine conjugate beta lyase 1" 1995-09-08 2016-04-26 2016-04-26 2023-01-20 883 ENSG00000171097 OTTHUMG00000020767 uc004bwh.5 Y17448 NM_001122671 "CCDS48038|CCDS75915|CCDS43884|CCDS94502" Q16773 7883047 MGI:1917516 RGD:1306912 600547 objectId:1445 "2.6.1.64|2.6.1.7|4.4.1.13" HGNC:1564 "ENST00000302586.8|NM_004059.5" -HGNC:33238 KYAT3 kynurenine aminotransferase 3 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "RBM1|RP11-82K18.3|KAT3|KATIII" kynurenine--oxoglutarate transaminase 3 CCBL2 cysteine conjugate beta lyase 2 2007-01-04 2016-04-26 2016-04-26 2023-01-20 56267 ENSG00000137944 OTTHUMG00000010617 uc001dmp.3 AF091090 NM_001008661 "CCDS30767|CCDS30766" Q6YP21 16376499 MGI:2677849 RGD:1359262 610656 "2.6.1.7|2.6.1.63|4.4.1.13" HGNC:33238 "ENST00000260508.9|NM_001008661.3" -HGNC:6469 KYNU kynureninase protein-coding gene gene with protein product Approved 2q22.2 02q22.2 L-kynurenine hydrolase kynureninase (L-kynurenine hydrolase) 1999-09-20 2010-11-23 2023-01-20 8942 ENSG00000115919 OTTHUMG00000131829 uc002tvl.4 U57721 NM_001032998 "CCDS2183|CCDS33299" Q16719 "8706755|9180257|28792876" MGI:1918039 RGD:71061 605197 168099 3.7.1.3 HGNC:6469 "ENST00000264170.9|NM_003937.3" HGNC:6469 +HGNC:1564 KYAT1 kynurenine aminotransferase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KATI|GTK" "glutamine transaminase K|kynurenine aminotransferase I|Glutamine--phenylpyruvate transaminase" CCBL1 "cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)|cysteine conjugate beta lyase 1" 1995-09-08 2016-04-26 2016-04-26 2023-01-20 883 ENSG00000171097 OTTHUMG00000020767 uc004bwh.5 Y17448 NM_001122671 "CCDS94502|CCDS75915|CCDS48038|CCDS43884" Q16773 7883047 MGI:1917516 RGD:1306912 600547 objectId:1445 "2.6.1.64|2.6.1.7|4.4.1.13" HGNC:1564 "ENST00000302586.8|NM_004059.5" +HGNC:33238 KYAT3 kynurenine aminotransferase 3 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "RBM1|RP11-82K18.3|KAT3|KATIII" kynurenine--oxoglutarate transaminase 3 CCBL2 cysteine conjugate beta lyase 2 2007-01-04 2016-04-26 2016-04-26 2023-01-20 56267 ENSG00000137944 OTTHUMG00000010617 uc001dmp.3 AF091090 NM_001008661 "CCDS30766|CCDS30767" Q6YP21 16376499 MGI:2677849 RGD:1359262 610656 "2.6.1.7|2.6.1.63|4.4.1.13" HGNC:33238 "ENST00000260508.9|NM_001008661.3" +HGNC:6469 KYNU kynureninase protein-coding gene gene with protein product Approved 2q22.2 02q22.2 L-kynurenine hydrolase kynureninase (L-kynurenine hydrolase) 1999-09-20 2010-11-23 2023-01-20 8942 ENSG00000115919 OTTHUMG00000131829 uc002tvl.4 U57721 NM_001032998 "CCDS33299|CCDS2183" Q16719 "8706755|9180257|28792876" MGI:1918039 RGD:71061 605197 168099 3.7.1.3 HGNC:6469 "ENST00000264170.9|NM_003937.3" HGNC:6469 HGNC:39199 KYNUP1 kynureninase pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 2010-11-23 2012-11-19 729321 ENSG00000261987 OTTHUMG00000178493 NG_022445 PGOHUM00000236956 HGNC:39199 HGNC:39200 KYNUP2 kynureninase pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2010-11-23 2012-10-03 729310 ENSG00000265746 OTTHUMG00000178390 NG_022458 PGOHUM00000237270 HGNC:39200 HGNC:39201 KYNUP3 kynureninase pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2010-11-23 2012-10-03 729323 ENSG00000263206 OTTHUMG00000059430 NG_022459 PGOHUM00000237271 HGNC:39201 @@ -14588,11 +14589,11 @@ HGNC:25595 L1TD1 LINE1 type transposase domain containing 1 protein-coding gene HGNC:49127 L1TD1P1 LINE-1 type transposase domain containing 1 pseudogene 1 pseudogene pseudogene Approved 13q33.1 13q33.1 2013-09-09 2013-09-09 100126007 NG_008317 PGOHUM00000248488 HGNC:49127 HGNC:20499 L2HGDH L-2-hydroxyglutarate dehydrogenase protein-coding gene gene with protein product Approved 14q21.3 14q21.3 FLJ12618 2-hydroxyglutarate dehydrogenase C14orf160 chromosome 14 open reading frame 160 MicroRNA protein coding host genes 1691 2003-10-02 2005-05-25 2005-05-25 2023-01-20 79944 ENSG00000087299 OTTHUMG00000140289 uc010tqn.3 NM_024884 CCDS9698 Q9H9P8 16005139 MGI:2384968 RGD:1306250 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/L2HGDH 609584 122957 1.1.99.2 HGNC:20499 "ENST00000267436.9|NM_024884.3" HGNC:20499 HGNC:20488 L3HYPDH trans-L-3-hydroxyproline dehydratase protein-coding gene gene with protein product Approved 14q23.1 14q23.1 FLJ25436 C14orf149 "chromosome 14 open reading frame 149|L-3-hydroxyproline dehydratase (trans-)" 2004-06-11 2012-08-15 2016-03-24 2023-01-20 112849 ENSG00000126790 OTTHUMG00000028941 uc001xee.2 AI762327 NM_144581 CCDS9739 Q96EM0 22528483 MGI:1914467 RGD:1305721 614811 4.2.1.77 HGNC:20488 "ENST00000247194.9|NM_144581.2" -HGNC:15905 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "ZC2HC3|dJ138B7.3|DKFZp586P1522|KIAA0681" lethal (3) malignant brain tumor l(3) L3MBTL "l(3)mbt (Drosophila)-like|l(3)mbt-like (Drosophila)|l(3)mbt-like 1 (Drosophila)|L3MBTL1, histone methyl-lysine binding protein" "Zinc fingers C2HC-type|Sterile alpha motif domain containing|MBT domain containing" "66|760|1263" 2001-06-21 2010-09-03 2019-01-22 2023-01-20 26013 ENSG00000185513 OTTHUMG00000032503 uc002xkl.4 U89358 NM_032107 "CCDS93045|CCDS46602|CCDS93043|CCDS93044|CCDS13319|CCDS93046|CCDS93047" Q9Y468 "10445843|17540172" MGI:2676663 RGD:1307316 LRG_1049|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1049.xml 608802 HGNC:15905 "ENST00000418998.7|NM_001377303.1" +HGNC:15905 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "ZC2HC3|dJ138B7.3|DKFZp586P1522|KIAA0681" lethal (3) malignant brain tumor l(3) L3MBTL "l(3)mbt (Drosophila)-like|l(3)mbt-like (Drosophila)|l(3)mbt-like 1 (Drosophila)|L3MBTL1, histone methyl-lysine binding protein" "Zinc fingers C2HC-type|Sterile alpha motif domain containing|MBT domain containing" "66|760|1263" 2001-06-21 2010-09-03 2019-01-22 2023-01-20 26013 ENSG00000185513 OTTHUMG00000032503 uc002xkl.4 U89358 NM_032107 "CCDS93043|CCDS93044|CCDS46602|CCDS93047|CCDS93045|CCDS13319|CCDS93046" Q9Y468 "10445843|17540172" MGI:2676663 RGD:1307316 LRG_1049|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1049.xml 608802 HGNC:15905 "ENST00000418998.7|NM_001377303.1" HGNC:18594 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "H-l(3)mbt-l|DKFZP761I141|dJ756G23.3" "l(3)mbt-like 2 (Drosophila)|L3MBTL2, polycomb repressive complex 1 subunit" MBT domain containing 1263 2002-04-29 2019-01-22 2023-01-20 83746 ENSG00000100395 OTTHUMG00000150942 uc003azo.4 AJ305226 NM_031488 CCDS14011 Q969R5 "11682070|21596310" MGI:2443584 RGD:1308569 611865 HGNC:18594 "ENST00000216237.10|NM_031488.5" HGNC:40847 L3MBTL2-AS1 L3MBTL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Antisense RNAs 1987 2019-08-16 2019-08-16 100506544 ENSG00000235513 OTTHUMG00000150943 NR_148200 HGNC:40847 HGNC:23035 L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 protein-coding gene gene with protein product Approved 6q23.1 06q23.1 KIAA1798 "l(3)mbt-like 3 (Drosophila)|L3MBTL3, histone methyl-lysine binding protein" "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 2003-11-26 2019-01-22 2023-01-20 84456 ENSG00000198945 OTTHUMG00000015554 uc003qbt.4 AB058701 NM_032438 "CCDS34538|CCDS34537" Q96JM7 MGI:2143628 RGD:1305474 618844 objectId:2830 HGNC:23035 "ENST00000361794.7|NM_032438.4" -HGNC:26677 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "FLJ35936|HsT1031" "l(3)mbt-like 4 (Drosophila)|L3MBTL4, histone methyl-lysine binding protein" "Sterile alpha motif domain containing|MBT domain containing|MicroRNA protein coding host genes" "760|1263|1691" 2004-05-20 2019-01-22 2023-01-20 91133 ENSG00000154655 OTTHUMG00000178980 uc002kmz.4 BC039316 NM_173464 "CCDS82238|CCDS92428|CCDS11839" Q8NA19 14702039 MGI:2444889 RGD:1587524 617135 HGNC:26677 "ENST00000317931.12|NM_001330559.2" +HGNC:26677 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "FLJ35936|HsT1031" "l(3)mbt-like 4 (Drosophila)|L3MBTL4, histone methyl-lysine binding protein" "Sterile alpha motif domain containing|MBT domain containing|MicroRNA protein coding host genes" "760|1263|1691" 2004-05-20 2019-01-22 2023-01-20 91133 ENSG00000154655 OTTHUMG00000178980 uc002kmz.4 BC039316 NM_173464 "CCDS92428|CCDS11839|CCDS82238" Q8NA19 14702039 MGI:2444889 RGD:1587524 617135 HGNC:26677 "ENST00000317931.12|NM_001330559.2" HGNC:51320 L3MBTL4-AS1 L3MBTL4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Antisense RNAs 1987 2014-10-02 2014-10-02 101927150 ENSG00000264707 OTTHUMG00000178852 BC040631 NR_110765 L3MBTL4-AS1 HGNC:51320 HGNC:26789 LACC1 laccase domain containing 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "FLJ38725|FAMIN" fatty acid metabolism–immunity nexus C13orf31 "chromosome 13 open reading frame 31|laccase (multicopper oxidoreductase) domain containing 1" 2006-08-07 2011-08-09 2016-02-01 2023-01-20 144811 ENSG00000179630 OTTHUMG00000016826 uc010acg.4 AK096044 NM_153218 CCDS9391 Q8IV20 "16740638|22504414|27478939" MGI:2445077 RGD:1310185 613409 454001 HGNC:26789 "ENST00000325686.7|NM_153218.4" HGNC:26789 HGNC:16430 LACRT lacritin protein-coding gene gene with protein product Approved 12q13.2 12q13.2 LACRITIN 2001-08-21 2023-01-20 90070 ENSG00000135413 OTTHUMG00000169936 uc001sgi.2 AF238867 NM_033277 CCDS8883 Q9GZZ8 11419941 607360 HGNC:16430 "ENST00000257867.5|NM_033277.2" @@ -14604,13 +14605,13 @@ HGNC:6472 LAD1 ladinin 1 protein-coding gene gene with protein product Approved HGNC:6476 LAG3 lymphocyte activating 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 CD223 lymphocyte-activation gene 3 "CD molecules|Immunoglobulin like domain containing" "471|594" 1991-06-03 2016-01-21 2023-01-20 3902 ENSG00000089692 OTTHUMG00000169197 uc001qqt.5 NM_002286 CCDS8561 P18627 MGI:106588 RGD:1302990 153337 objectId:2932 CD223 HGNC:6476 "ENST00000203629.3|NM_002286.6" HGNC:26058 LAGE3 L antigen family member 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "ITBA2|CVG5|DXS9951E|DXS9879E|ESO3|Pcc1" DNA segment on chromosome X (unique) 9879 expressed sequence L antigen family, member 3 KEOPS complex 1313 2006-07-04 2015-11-18 2023-01-20 8270 ENSG00000196976 OTTHUMG00000033294 uc033fbs.1 X92896 NM_006014 CCDS14753 Q14657 "8786131|22912744" MGI:1913442 RGD:1562476 300060 HGNC:26058 "ENST00000357360.5|NM_006014.5" HGNC:26058 HGNC:49909 LAGE3P1 L antigen family member 3 pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 L antigen family, member 3 pseudogene 1 2014-03-21 2015-11-18 2015-11-18 646808 ENSG00000225693 OTTHUMG00000019761 NG_030084 PGOHUM00000236011 HGNC:49909 -HGNC:6477 LAIR1 leukocyte associated immunoglobulin like receptor 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "CD305|LAIR-1" "leukocyte-associated Ig-like receptor 1|leukocyte-associated immunoglobulin-like receptor 1" "CD molecules|Immunoglobulin like domain containing" "471|594" 1997-07-25 2016-01-21 2023-01-20 3903 ENSG00000167613 OTTHUMG00000065545 uc032idt.2 AF013249 NM_001289023 "CCDS12892|CCDS74450|CCDS74449|CCDS74448|CCDS12891" Q6GTX8 9285412 MGI:105492 RGD:1560048 602992 objectId:2974 CD305 HGNC:6477 "ENST00000391742.7|NM_002287.6" +HGNC:6477 LAIR1 leukocyte associated immunoglobulin like receptor 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "CD305|LAIR-1" "leukocyte-associated Ig-like receptor 1|leukocyte-associated immunoglobulin-like receptor 1" "CD molecules|Immunoglobulin like domain containing" "471|594" 1997-07-25 2016-01-21 2023-01-20 3903 ENSG00000167613 OTTHUMG00000065545 uc032idt.2 AF013249 NM_001289023 "CCDS12891|CCDS74449|CCDS74450|CCDS12892|CCDS74448" Q6GTX8 9285412 MGI:105492 RGD:1560048 602992 objectId:2974 CD305 HGNC:6477 "ENST00000391742.7|NM_002287.6" HGNC:6478 LAIR2 leukocyte associated immunoglobulin like receptor 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "CD306|LAIR-2" "leukocyte-associated Ig-like receptor 2|leukocyte-associated immunoglobulin-like receptor 2" "CD molecules|Immunoglobulin like domain containing" "471|594" 1997-07-25 2016-01-21 2023-01-20 3904 ENSG00000167618 OTTHUMG00000065697 uc002qgc.4 AF013250 NM_002288 "CCDS12897|CCDS12898" Q6ISS4 9285412 MGI:105492 602993 CD306 HGNC:6478 "ENST00000301202.7|NM_002288.6" HGNC:6480 LALBA lactalbumin alpha protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "LYZL7|LYZG|HAMLET" "lactose synthase B|lysozyme G" lactalbumin, alpha- Lysozymes, c-type 1174 2001-06-22 2016-01-12 2023-01-20 3906 ENSG00000167531 OTTHUMG00000170391 uc001rrt.3 NM_002289 CCDS8765 P00709 MGI:96742 RGD:2987 149750 HGNC:6480 "ENST00000301046.6|NM_002289.3" HGNC:6481 LAMA1 laminin subunit alpha 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 LAMA laminin, alpha 1 Laminin subunits 626 1989-05-25 2015-11-23 2023-01-20 284217 ENSG00000101680 OTTHUMG00000133478 uc002knm.3 X58531 NM_005559 CCDS32787 P25391 2591971 MGI:99892 RGD:1307207 150320 410692 HGNC:6481 "ENST00000389658.4|NM_005559.4" HGNC:6481 HGNC:6482 LAMA2 laminin subunit alpha 2 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 "merosin|congenital muscular dystrophy" LAMM laminin, alpha 2 Laminin subunits 626 1992-05-06 2015-11-23 2023-01-20 3908 ENSG00000196569 OTTHUMG00000015545 uc063rgy.1 Z26653 NM_000426 "CCDS93999|CCDS5138" P24043 "2185464|8294519" MGI:99912 RGD:1308889 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/LAMA2|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LAMA2|LRG_409|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_409.xml" 156225 122961 HGNC:6482 "ENST00000421865.3|NM_000426.4" HGNC:6482 -HGNC:6483 LAMA3 laminin subunit alpha 3 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "nicein-150kDa|kalinin-165kDa|BM600-150kDa|epiligrin" LAMNA "laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)|laminin, alpha 3" Laminin subunits 626 1993-12-14 2015-11-23 2023-01-20 3909 ENSG00000053747 OTTHUMG00000131874 uc002kuq.4 L34155 "NM_000227|NM_198129" "CCDS11880|CCDS45838|CCDS42419|CCDS59307" Q16787 8077230 MGI:99909 RGD:628776 600805 122964 HGNC:6483 "ENST00000313654.14|NM_198129.4" HGNC:6483 -HGNC:6484 LAMA4 laminin subunit alpha 4 protein-coding gene gene with protein product Approved 6q21 06q21 LAMA3 laminin, alpha 4 Laminin subunits 626 1993-07-26 2015-11-23 2023-01-20 3910 ENSG00000112769 OTTHUMG00000015386 uc003pvv.4 NM_001105206 "CCDS43491|CCDS43492|CCDS34514" Q16363 7959779 MGI:109321 RGD:1560062 LRG_433|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_433.xml 600133 333071 HGNC:6484 "ENST00000230538.12|NM_001105206.3" HGNC:6484 +HGNC:6483 LAMA3 laminin subunit alpha 3 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "nicein-150kDa|kalinin-165kDa|BM600-150kDa|epiligrin" LAMNA "laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)|laminin, alpha 3" Laminin subunits 626 1993-12-14 2015-11-23 2023-01-20 3909 ENSG00000053747 OTTHUMG00000131874 uc002kuq.4 L34155 "NM_000227|NM_198129" "CCDS45838|CCDS11880|CCDS42419|CCDS59307" Q16787 8077230 MGI:99909 RGD:628776 600805 122964 HGNC:6483 "ENST00000313654.14|NM_198129.4" HGNC:6483 +HGNC:6484 LAMA4 laminin subunit alpha 4 protein-coding gene gene with protein product Approved 6q21 06q21 LAMA3 laminin, alpha 4 Laminin subunits 626 1993-07-26 2015-11-23 2023-01-20 3910 ENSG00000112769 OTTHUMG00000015386 uc003pvv.4 NM_001105206 "CCDS43491|CCDS34514|CCDS43492" Q16363 7959779 MGI:109321 RGD:1560062 LRG_433|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_433.xml 600133 333071 HGNC:6484 "ENST00000230538.12|NM_001105206.3" HGNC:6484 HGNC:40333 LAMA4-AS1 LAMA4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 Antisense RNAs 1987 2019-08-16 2019-08-16 101927640 ENSG00000226440 OTTHUMG00000015392 NR_121193 HGNC:40333 HGNC:6485 LAMA5 laminin subunit alpha 5 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 laminin alpha5-chain laminin, alpha 5 "Laminin subunits|MicroRNA protein coding host genes" "626|1691" 1997-10-30 2015-11-23 2023-01-20 3911 ENSG00000130702 OTTHUMG00000032908 uc002ycq.5 AF443072 NM_005560 CCDS33502 O15230 9271224 MGI:105382 RGD:621023 601033 470582 HGNC:6485 "ENST00000252999.7|NM_005560.6" HGNC:6485 HGNC:40334 LAMA5-AS1 LAMA5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2014-06-13 2014-11-19 101928158 ENSG00000228812 OTTHUMG00000032911 NR_109922 LAMA5-AS1 HGNC:40334 @@ -14618,30 +14619,30 @@ HGNC:6486 LAMB1 laminin subunit beta 1 protein-coding gene gene with protein pro HGNC:6487 LAMB2 laminin subunit beta 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 NPHS5 laminin S LAMS laminin, beta 2 (laminin S) Laminin subunits 626 1992-05-06 2015-11-23 2023-01-20 3913 ENSG00000172037 OTTHUMG00000156807 uc003cwf.2 NM_002292 CCDS2789 P55268 "2922051|10393422" MGI:99916 RGD:2988 150325 122971 HGNC:6487 "ENST00000305544.9|NM_002292.4" HGNC:6487 HGNC:6488 LAMB2P1 laminin subunit beta 2 pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 LAMB2L "laminin, beta 2-like|laminin, beta 2 pseudogene 1" 1998-12-11 2010-10-28 2015-11-23 2020-04-03 22973 ENSG00000270441 AJ009558 NR_004405 10393422 PGOHUM00000237622 HGNC:6488 HGNC:6490 LAMB3 laminin subunit beta 3 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "nicein-125kDa|kalinin-140kDa|BM600-125kDa" LAMNB1 "laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))|laminin, beta 3" "Laminin subunits|MicroRNA protein coding host genes" "626|1691" 1993-12-14 2015-11-23 2023-01-20 3914 ENSG00000196878 OTTHUMG00000036360 uc001hhh.4 D37766 NM_000228 CCDS1487 Q13751 "8088808|7774918" MGI:99915 RGD:1562668 150310 122974 HGNC:6490 "ENST00000356082.9|NM_000228.3" HGNC:6490 -HGNC:6491 LAMB4 laminin subunit beta 4 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 laminin, beta 4 Laminin subunits 626 1998-10-19 2015-11-23 2023-01-20 22798 ENSG00000091128 OTTHUMG00000154874 uc003vey.3 AF028816 NM_001318046 "CCDS83218|CCDS34732" A4D0S4 616380 470584 HGNC:6491 "ENST00000388781.8|NM_007356.3" +HGNC:6491 LAMB4 laminin subunit beta 4 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 laminin, beta 4 Laminin subunits 626 1998-10-19 2015-11-23 2023-01-20 22798 ENSG00000091128 OTTHUMG00000154874 uc003vey.3 AF028816 NM_001318046 "CCDS34732|CCDS83218" A4D0S4 616380 470584 HGNC:6491 "ENST00000388781.8|NM_007356.3" HGNC:6492 LAMC1 laminin subunit gamma 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 Laminin B2 chain LAMB2 laminin, gamma 1 (formerly LAMB2) Laminin subunits 626 2001-06-22 2015-11-23 2023-01-20 3915 ENSG00000135862 OTTHUMG00000035418 uc001gpy.4 J03202 NM_002293 CCDS1351 P11047 "3234037|9917858" MGI:99914 RGD:621052 150290 470586 HGNC:6492 "ENST00000258341.5|NM_002293.4" HGNC:52645 LAMC1-AS1 LAMC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 lnc-LAMC2-1:1 Antisense RNAs 1987 2017-08-03 2018-07-26 110841583 ENSG00000224468 OTTHUMG00000046152 NR_149048 "26905585|28032728" HGNC:52645 -HGNC:6493 LAMC2 laminin subunit gamma 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "nicein-100kDa|kalinin-105kDa|BM600-100kDa" "EBR2|LAMB2T|LAMNB2|EBR2A" "laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))|laminin, gamma 2" Laminin subunits 626 1993-07-13 2015-11-23 2023-01-20 3918 ENSG00000058085 OTTHUMG00000035520 uc001gqa.3 Z15008 NM_005562 "CCDS1352|CCDS44285" Q13753 1383240 MGI:99913 RGD:621053 150292 122980 HGNC:6493 "ENST00000264144.5|NM_005562.3" HGNC:6493 +HGNC:6493 LAMC2 laminin subunit gamma 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "nicein-100kDa|kalinin-105kDa|BM600-100kDa" "EBR2|LAMB2T|LAMNB2|EBR2A" "laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))|laminin, gamma 2" Laminin subunits 626 1993-07-13 2015-11-23 2023-01-20 3918 ENSG00000058085 OTTHUMG00000035520 uc001gqa.3 Z15008 NM_005562 "CCDS44285|CCDS1352" Q13753 1383240 MGI:99913 RGD:621053 150292 122980 HGNC:6493 "ENST00000264144.5|NM_005562.3" HGNC:6493 HGNC:6494 LAMC3 laminin subunit gamma 3 protein-coding gene gene with protein product Approved 9q34.12 09q34.12 DKFZp434E202 laminin, gamma 3 Laminin subunits 626 1999-07-23 2015-11-23 2023-01-20 10319 ENSG00000050555 OTTHUMG00000020819 uc004caa.2 AF041835 NM_006059 CCDS6938 Q9Y6N6 10225960 MGI:1344394 RGD:1309399 604349 280647 HGNC:6494 "ENST00000361069.9|NM_006059.4" HGNC:6494 HGNC:6499 LAMP1 lysosomal associated membrane protein 1 protein-coding gene gene with protein product Approved 13q34 13q34 CD107a lysosomal-associated membrane protein 1 "CD molecules|Lysosome associated membrane proteins" "471|1910" 1990-07-15 2016-01-14 2023-01-20 3916 ENSG00000185896 OTTHUMG00000017380 uc001vtm.2 J03263 NM_005561 CCDS41909 P11279 MGI:96745 RGD:2989 153330 CD107a HGNC:6499 "ENST00000332556.5|NM_005561.4" HGNC:6500 LAMP1P1 lysosomal associated membrane protein 1 pseudogene 1 pseudogene pseudogene Approved 12p13.3 12p13.3 LAMP1L1 "lysosomal-associated membrane protein 1-like 1|lysosomal-associated membrane protein 1 pseudogene 1" 1990-09-10 2010-10-15 2016-01-14 2016-01-14 100421198 NG_023963 PGOHUM00000239292 HGNC:6500 -HGNC:6501 LAMP2 lysosomal associated membrane protein 2 protein-coding gene gene with protein product Approved Xq24 Xq24 CD107b lysosomal-associated membrane protein 2 "CD molecules|Lysosome associated membrane proteins" "471|1910" 1990-08-03 2016-01-14 2023-01-20 3920 ENSG00000005893 OTTHUMG00000022301 uc004ess.5 X77196 NM_001122606 "CCDS14599|CCDS48159|CCDS14600" P13473 MGI:96748 RGD:2990 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LAMP2|LRG_749|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_749.xml" 309060 122989 CD107b HGNC:6501 "ENST00000200639.9|NM_002294.3" HGNC:6501 +HGNC:6501 LAMP2 lysosomal associated membrane protein 2 protein-coding gene gene with protein product Approved Xq24 Xq24 CD107b lysosomal-associated membrane protein 2 "CD molecules|Lysosome associated membrane proteins" "471|1910" 1990-08-03 2016-01-14 2023-01-20 3920 ENSG00000005893 OTTHUMG00000022301 uc004ess.5 X77196 NM_001122606 "CCDS48159|CCDS14599|CCDS14600" P13473 MGI:96748 RGD:2990 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LAMP2|LRG_749|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_749.xml" 309060 122989 CD107b HGNC:6501 "ENST00000200639.9|NM_002294.3" HGNC:6501 HGNC:14582 LAMP3 lysosomal associated membrane protein 3 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "LAMP|TSC403|DC-LAMP|DCLAMP|CD208" lysosomal-associated membrane protein 3 "CD molecules|Lysosome associated membrane proteins" "471|1910" 2001-06-29 2016-01-14 2023-01-20 27074 ENSG00000078081 OTTHUMG00000158387 uc003flh.5 AB013924 NM_014398 CCDS3242 Q9UQV4 9721848 MGI:2441659 RGD:1307928 605883 CD208 HGNC:14582 "ENST00000265598.8|NM_014398.4" -HGNC:16097 LAMP5 lysosomal associated membrane protein family member 5 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "dJ1119D9.3|BAD-LAMP|UNC-46" brain and dendritic cell associated LAMP C20orf103 "chromosome 20 open reading frame 103|lysosomal-associated membrane protein family, member 5" Lysosome associated membrane proteins 1910 2001-07-17 2011-11-25 2015-11-17 2023-01-20 24141 ENSG00000125869 OTTHUMG00000031851 uc002wni.3 AL121740 NM_012261 "CCDS56177|CCDS13106" Q9UJQ1 "11780052|21642595" MGI:1923411 RGD:1306991 614641 HGNC:16097 "ENST00000246070.3|NM_012261.4" +HGNC:16097 LAMP5 lysosomal associated membrane protein family member 5 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "dJ1119D9.3|BAD-LAMP|UNC-46" brain and dendritic cell associated LAMP C20orf103 "chromosome 20 open reading frame 103|lysosomal-associated membrane protein family, member 5" Lysosome associated membrane proteins 1910 2001-07-17 2011-11-25 2015-11-17 2023-01-20 24141 ENSG00000125869 OTTHUMG00000031851 uc002wni.3 AL121740 NM_012261 "CCDS13106|CCDS56177" Q9UJQ1 "11780052|21642595" MGI:1923411 RGD:1306991 614641 HGNC:16097 "ENST00000246070.3|NM_012261.4" HGNC:40754 LAMP5-AS1 LAMP5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 Antisense RNAs 1987 2014-02-01 2014-11-19 101929329 ENSG00000225988 OTTHUMG00000031850 NR_109957 24488769 LAMP5-AS1 HGNC:40754 HGNC:26068 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FLJ20625|p18|p27RF-Rho|Pdro|Ragulator1" "p27kip1 releasing factor from RhoA|protein associated with DRMs and endosomes" C11orf59 chromosome 11 open reading frame 59 Ragulator complex 1040 2006-03-09 2011-02-15 2011-02-15 2023-01-20 55004 ENSG00000149357 OTTHUMG00000167869 uc001ort.3 AK000632 NM_017907 CCDS8209 Q6IAA8 "12358155|24377928" MGI:1913758 RGD:735078 613510 HGNC:26068 "ENST00000278671.10|NM_017907.3" -HGNC:29796 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 protein-coding gene gene with protein product Approved 1q22 01q22 "MAPBPIP|MAPKSP1AP|p14|ENDAP|Ragulator2" "mitogen activated protein binding protein interacting protein|MAPKSP1 adaptor protein|endosomal adaptor protein" ROBLD3 roadblock domain containing 3 Ragulator complex 1040 2008-09-16 2011-02-15 2011-02-15 2023-01-20 28956 ENSG00000116586 OTTHUMG00000017462 uc001fnb.4 BC024190 NM_014017 "CCDS1128|CCDS44243" Q9Y2Q5 "11042152|24092934" MGI:1932697 RGD:1562501 "MAPBPIPbase: Mutation registry for endosomal adaptor protein p14 deficiency|http://structure.bmc.lu.se/idbase/MAPBPIPbase/|LRG_81|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_81.xml" 610389 165856 HGNC:29796 "ENST00000368305.9|NM_014017.4" HGNC:29796 -HGNC:15606 LAMTOR3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 protein-coding gene gene with protein product Approved 4q23 04q23 "MP1|MAPBP|Ragulator3" MEK partner 1 "MAP2K1IP1|MAPKSP1" "mitogen-activated protein kinase kinase 1 interacting protein 1|MAPK scaffold protein 1" Ragulator complex 1040 2001-05-22 2011-02-15 2011-02-15 2023-01-20 8649 ENSG00000109270 OTTHUMG00000131050 uc003hvg.3 AF201947 NM_021970 "CCDS3652|CCDS58920" Q9UHA4 "9733512|15016825|23653355" MGI:1929467 RGD:1307133 603296 HGNC:15606 "ENST00000499666.7|NM_021970.4" +HGNC:29796 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 protein-coding gene gene with protein product Approved 1q22 01q22 "MAPBPIP|MAPKSP1AP|p14|ENDAP|Ragulator2" "mitogen activated protein binding protein interacting protein|MAPKSP1 adaptor protein|endosomal adaptor protein" ROBLD3 roadblock domain containing 3 Ragulator complex 1040 2008-09-16 2011-02-15 2011-02-15 2023-01-20 28956 ENSG00000116586 OTTHUMG00000017462 uc001fnb.4 BC024190 NM_014017 "CCDS44243|CCDS1128" Q9Y2Q5 "11042152|24092934" MGI:1932697 RGD:1562501 "MAPBPIPbase: Mutation registry for endosomal adaptor protein p14 deficiency|http://structure.bmc.lu.se/idbase/MAPBPIPbase/|LRG_81|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_81.xml" 610389 165856 HGNC:29796 "ENST00000368305.9|NM_014017.4" HGNC:29796 +HGNC:15606 LAMTOR3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 protein-coding gene gene with protein product Approved 4q23 04q23 "MP1|MAPBP|Ragulator3" MEK partner 1 "MAP2K1IP1|MAPKSP1" "mitogen-activated protein kinase kinase 1 interacting protein 1|MAPK scaffold protein 1" Ragulator complex 1040 2001-05-22 2011-02-15 2011-02-15 2023-01-20 8649 ENSG00000109270 OTTHUMG00000131050 uc003hvg.3 AF201947 NM_021970 "CCDS58920|CCDS3652" Q9UHA4 "9733512|15016825|23653355" MGI:1929467 RGD:1307133 603296 HGNC:15606 "ENST00000499666.7|NM_021970.4" HGNC:39726 LAMTOR3P1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1 pseudogene pseudogene Approved 13q13.3 13q13.3 2011-03-24 2011-03-24 100130119 ENSG00000228825 OTTHUMG00000016745 NG_016963 PGOHUM00000248569 HGNC:39726 HGNC:39727 LAMTOR3P2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 2 pseudogene pseudogene Approved 5q23.1 05q23.1 2011-03-24 2011-03-24 100874516 ENSG00000248979 OTTHUMG00000162950 NG_032353 PGOHUM00000251328 HGNC:39727 HGNC:33772 LAMTOR4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 C7orf59 chromosome 7 open reading frame 59 Ragulator complex 1040 2008-06-13 2012-09-24 2012-09-24 2023-01-20 389541 ENSG00000188186 OTTHUMG00000154854 uc003utq.3 NM_001008395 "CCDS83211|CCDS83210|CCDS34702" Q0VGL1 "22980980|31314152" MGI:1913346 RGD:1309735 618834 HGNC:33772 "ENST00000341942.10|NM_001008395.4" -HGNC:17955 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "XIP|MGC71071" "HBx-interacting protein|hepatitis B virus x-interacting protein (9.6kD)" HBXIP hepatitis B virus x interacting protein Ragulator complex 1040 2002-01-10 2012-09-24 2012-09-24 2023-01-20 10542 ENSG00000134248 OTTHUMG00000011568 uc057jdz.1 AF029890 NM_006402 "CCDS824|CCDS91022" O43504 "9499022|22980980" MGI:1915826 RGD:1305005 608521 HGNC:17955 "ENST00000602318.6|NM_001382293.1" +HGNC:17955 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "XIP|MGC71071" "HBx-interacting protein|hepatitis B virus x-interacting protein (9.6kD)" HBXIP hepatitis B virus x interacting protein Ragulator complex 1040 2002-01-10 2012-09-24 2012-09-24 2023-01-20 10542 ENSG00000134248 OTTHUMG00000011568 uc057jdz.1 AF029890 NM_006402 "CCDS91022|CCDS824" O43504 "9499022|22980980" MGI:1915826 RGD:1305005 608521 HGNC:17955 "ENST00000602318.6|NM_001382293.1" HGNC:40823 LAMTOR5-AS1 LAMTOR5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Antisense RNAs 1987 2012-09-24 2021-09-03 101410535 ENSG00000224699 OTTHUMG00000019824 uc057jep.1 "HY022359|BE547292|BG718030" NR_102697 LAMTOR5-AS1 HGNC:40823 HGNC:31854 LAMTOR5P1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 pseudogene 1 pseudogene pseudogene Approved 1p31.3 01p31.3 HBXIPL hepatitis B virus x interacting protein-like HBXIPP1 hepatitis B virus x interacting protein pseudogene 1 2010-06-17 2012-09-24 2012-09-24 2014-11-18 106478910 ENSG00000236646 OTTHUMG00000008916 NG_044987 PGOHUM00000244738 HGNC:31854 HGNC:6508 LANCL1 LanC like glutathione S-transferase 1 protein-coding gene gene with protein product Approved 2q34 02q34 p40 GPR69A "LanC (bacterial lantibiotic synthetase component C)-like 1|LanC lantibiotic synthetase component C-like 1 (bacterial)|LanC like 1" 1999-06-02 2022-06-16 2023-01-20 10314 ENSG00000115365 OTTHUMG00000132991 uc002ved.3 Y11395 NM_006055 CCDS2392 O43813 "9512664|10944443|22891245" MGI:1336997 RGD:69416 604155 HGNC:6508 "ENST00000450366.7|NM_006055.3" HGNC:50727 LANCL1-AS1 LANCL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q34 02q34 LANCLOT LANCL1 opposite transcript Antisense RNAs 1987 2014-06-12 2014-06-12 102724820 ENSG00000234281 OTTHUMG00000154735 AA447268 NR_110604 LANCL1-AS1 HGNC:50727 HGNC:6509 LANCL2 LanC like glutathione S-transferase 2 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 TASP "testis-specific adriamycin sensitivity protein|G protein-coupled receptor 69B" GPR69B "LanC (bacterial lantibiotic synthetase component C)-like 2|LanC lantibiotic synthetase component C-like 2 (bacterial)|LanC like 2" 1999-06-02 2022-06-16 2023-01-20 55915 ENSG00000132434 OTTHUMG00000023779 uc003tqp.3 AJ278245 NM_018697 CCDS5517 Q9NS86 "11762191|19667068" MGI:1919085 RGD:1310809 612919 objectId:3082 HGNC:6509 "ENST00000254770.3|NM_018697.4" -HGNC:24767 LANCL3 LanC like family member 3 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 FLJ42925 "LanC lantibiotic synthetase component C-like 3 (bacterial)|LanC like 3" 2005-01-12 2022-06-16 2023-01-20 347404 ENSG00000147036 OTTHUMG00000033177 uc011mkd.3 AK124915 NM_198511 "CCDS55398|CCDS14240" Q6ZV70 MGI:2443335 RGD:1563642 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LANCL3 HGNC:24767 "ENST00000378619.4|NM_001170331.2" +HGNC:24767 LANCL3 LanC like family member 3 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 FLJ42925 "LanC lantibiotic synthetase component C-like 3 (bacterial)|LanC like 3" 2005-01-12 2022-06-16 2023-01-20 347404 ENSG00000147036 OTTHUMG00000033177 uc011mkd.3 AK124915 NM_198511 "CCDS14240|CCDS55398" Q6ZV70 MGI:2443335 RGD:1563642 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LANCL3 HGNC:24767 "ENST00000378619.4|NM_001170331.2" HGNC:18449 LAP3 leucine aminopeptidase 3 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "LAPEP|LAP" PEPS peptidase S Aminopeptidases 104 2002-04-22 2003-09-12 2023-01-20 51056 ENSG00000002549 OTTHUMG00000048214 uc062vle.1 AF061738 NM_015907 CCDS3422 P28838 "6350155|689684" MGI:1914238 RGD:1307985 170250 M17.001 objectId:1569 3.4.11.1 HGNC:18449 "ENST00000226299.9|NM_015907.3" HGNC:42364 LAP3P1 leucine aminopeptidase 3 pseudogene 1 pseudogene pseudogene Approved 6q14.1 06q14.1 2011-07-04 2017-03-01 100873864 ENSG00000220091 OTTHUMG00000015105 NG_032656 PGOHUM00000243268 HGNC:42364 HGNC:42365 LAP3P2 leucine aminopeptidase 3 pseudogene 2 pseudogene pseudogene Approved 6p21.2 06p21.2 2011-07-04 2014-11-19 389386 ENSG00000213500 OTTHUMG00000014600 NG_022353 PGOHUM00000243608 HGNC:42365 @@ -14653,39 +14654,39 @@ HGNC:51935 LAPTM4BP2 lysosomal protein transmembrane 4 beta pseudogene 2 pseudog HGNC:29612 LAPTM5 lysosomal protein transmembrane 5 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 lysosomal multispanning membrane protein 5 MicroRNA protein coding host genes 1691 2004-12-03 2009-07-20 2023-01-20 7805 ENSG00000162511 OTTHUMG00000003707 uc001bsc.3 U51240 NM_006762 CCDS337 Q13571 "8661146|12527926" MGI:108046 RGD:621838 601476 HGNC:29612 "ENST00000294507.4|NM_006762.3" HGNC:40336 LARGE-AS1 LARGE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Antisense RNAs 1987 2013-05-17 2014-11-19 100506195 ENSG00000224973 OTTHUMG00000150916 NR_038949 LARGE-AS1 HGNC:40336 HGNC:41357 LARGE-IT1 LARGE intronic transcript 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 LARGE intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-09-22 2015-02-25 2015-02-25 100874331 ENSG00000232081 OTTHUMG00000150915 uc062dpd.1 LARGE-IT1 -HGNC:6511 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 KIAA0609 like-acetylglucosaminyltransferase LARGE like-glycosyltransferase "Glycosyltransferase family 8|MicroRNA protein coding host genes" "436|1691" 1999-06-02 2016-05-31 2016-05-31 2023-01-20 9215 ENSG00000133424 OTTHUMG00000150914 uc003and.5 AJ007583 NM_133642 "CCDS93152|CCDS13912|CCDS93154|CCDS93153" O95461 "9892679|12966029|22223806" MGI:1342270 RGD:1308895 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LARGE|LRG_856|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_856.xml" 603590 122992 HGNC:6511 "ENST00000397394.8|NM_133642.5" HGNC:6511 +HGNC:6511 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 KIAA0609 like-acetylglucosaminyltransferase LARGE like-glycosyltransferase "Glycosyltransferase family 8|MicroRNA protein coding host genes" "436|1691" 1999-06-02 2016-05-31 2016-05-31 2023-01-20 9215 ENSG00000133424 OTTHUMG00000150914 uc003and.5 AJ007583 NM_133642 "CCDS93152|CCDS93153|CCDS93154|CCDS13912" O95461 "9892679|12966029|22223806" MGI:1342270 RGD:1308895 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LARGE|LRG_856|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_856.xml" 603590 122992 HGNC:6511 "ENST00000397394.8|NM_133642.5" HGNC:6511 HGNC:55162 LARGE1-AS1 LARGE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Antisense RNAs 1987 2020-07-17 2020-07-17 107985565 ENSG00000273082 XR_001755630 -HGNC:16522 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "PP5656|FLJ35207" GYLTL1B glycosyltransferase-like 1B Glycosyltransferase family 8 436 2005-09-09 2016-05-31 2016-05-31 2023-01-20 120071 ENSG00000165905 OTTHUMG00000167037 uc001nbv.1 NM_152312 "CCDS31473|CCDS76399" Q8N3Y3 "15661757|15958417" MGI:2443769 RGD:735214 609709 HGNC:16522 "ENST00000401752.6|NM_001300721.2" -HGNC:29531 LARP1 La ribonucleoprotein 1, translational regulator protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "LARP|KIAA0731|MGC19556|Lar1|Lhp1" "La ribonucleoprotein domain family, member 1|La ribonucleoprotein domain family member 1" "La ribonucleoproteins|MicroRNA protein coding host genes" "625|1691" 2005-06-16 2019-08-28 2023-03-15 23367 ENSG00000155506 OTTHUMG00000130191 uc003lvo.4 AB018274 NM_033551 "CCDS4328|CCDS93806|CCDS93807" Q6PKG0 "29244122|9872452|10878606|24532714" MGI:1890165 RGD:1306683 612059 HGNC:29531 "ENST00000518297.6|NM_033551.3" -HGNC:24704 LARP1B La ribonucleoprotein 1B protein-coding gene gene with protein product Approved 4q28.2 04q28.2 "FLJ10378|DKFZp434K245|DKFZp686E0316" LARP2 "La ribonucleoprotein domain family, member 2|La ribonucleoprotein domain family, member 1B|La ribonucleoprotein domain family member 1B" La ribonucleoproteins 625 2005-06-16 2009-06-09 2019-08-28 2023-01-20 55132 ENSG00000138709 OTTHUMG00000133343 uc003iga.5 NM_018078 "CCDS64057|CCDS47133|CCDS3738|CCDS93633" Q659C4 12045101 MGI:1914604 RGD:1307509 HGNC:24704 "ENST00000326639.11|NM_018078.4" +HGNC:16522 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "PP5656|FLJ35207" GYLTL1B glycosyltransferase-like 1B Glycosyltransferase family 8 436 2005-09-09 2016-05-31 2016-05-31 2023-01-20 120071 ENSG00000165905 OTTHUMG00000167037 uc001nbv.1 NM_152312 "CCDS76399|CCDS31473" Q8N3Y3 "15661757|15958417" MGI:2443769 RGD:735214 609709 HGNC:16522 "ENST00000401752.6|NM_001300721.2" +HGNC:29531 LARP1 La ribonucleoprotein 1, translational regulator protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "LARP|KIAA0731|MGC19556|Lar1|Lhp1" "La ribonucleoprotein domain family, member 1|La ribonucleoprotein domain family member 1" "La ribonucleoproteins|MicroRNA protein coding host genes" "625|1691" 2005-06-16 2019-08-28 2023-03-15 23367 ENSG00000155506 OTTHUMG00000130191 uc003lvo.4 AB018274 NM_033551 "CCDS4328|CCDS93807|CCDS93806" Q6PKG0 "29244122|9872452|10878606|24532714" MGI:1890165 RGD:1306683 612059 HGNC:29531 "ENST00000518297.6|NM_033551.3" +HGNC:24704 LARP1B La ribonucleoprotein 1B protein-coding gene gene with protein product Approved 4q28.2 04q28.2 "FLJ10378|DKFZp434K245|DKFZp686E0316" LARP2 "La ribonucleoprotein domain family, member 2|La ribonucleoprotein domain family, member 1B|La ribonucleoprotein domain family member 1B" La ribonucleoproteins 625 2005-06-16 2009-06-09 2019-08-28 2023-01-20 55132 ENSG00000138709 OTTHUMG00000133343 uc003iga.5 NM_018078 "CCDS64057|CCDS3738|CCDS47133|CCDS93633" Q659C4 12045101 MGI:1914604 RGD:1307509 HGNC:24704 "ENST00000326639.11|NM_018078.4" HGNC:37097 LARP1BP1 LARP1B pseudogene 1 pseudogene pseudogene Approved 4q13.1 04q13.1 "La ribonucleoprotein domain family, member 1B pseudogene 1|La ribonucleoprotein domain family member 1B pseudogene 1" 2012-06-14 2019-08-28 2019-08-28 644578 ENSG00000231442 OTTHUMG00000160671 NG_028891 PGOHUM00000250769 HGNC:37097 HGNC:44084 LARP1BP2 LARP1B pseudogene 2 pseudogene pseudogene Approved 7q22.3 07q22.3 "La ribonucleoprotein domain family, member 1B pseudogene 2|La ribonucleoprotein domain family member 1B pseudogene 2" 2012-06-14 2019-08-28 2019-08-28 106479034 ENSG00000243438 OTTHUMG00000157589 NG_045004 PGOHUM00000233519 HGNC:44084 HGNC:44085 LARP1BP3 LARP1B pseudogene 3 pseudogene pseudogene Approved Xq26.2 Xq26.2 "La ribonucleoprotein domain family, member 1B pseudogene 3|La ribonucleoprotein domain family member 1B pseudogene 3" 2012-06-14 2019-08-28 2019-08-28 644403 ENSG00000232664 OTTHUMG00000022450 NG_022704 PGOHUM00000250088 HGNC:44085 HGNC:23183 LARP1P1 LARP1 pseudogene 1 pseudogene pseudogene Approved 6p22.2 06p22.2 dJ221C16.7 HCG10P "HLA complex group 10 pseudogene|La ribonucleoprotein domain family, member 1 pseudogene 1|La ribonucleoprotein domain family member 1 pseudogene 1" 2004-11-25 2012-06-14 2019-08-28 2020-04-20 100379623 ENSG00000217159 OTTHUMG00000014424 NG_029346 PGOHUM00000243519 HGNC:23183 -HGNC:24320 LARP4 La ribonucleoprotein 4 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 PP13296 La-related protein 4 "La ribonucleoprotein domain family, member 4|La ribonucleoprotein domain family member 4" La ribonucleoproteins 625 2005-06-16 2019-08-28 2023-01-20 113251 ENSG00000161813 OTTHUMG00000163724 uc001rwp.3 AY004310 NM_052879 "CCDS41782|CCDS53790|CCDS53789|CCDS44879|CCDS86300|CCDS44880|CCDS81690" Q71RC2 "21098120|28895529|28782243" MGI:2443114 RGD:6499275 618657 HGNC:24320 "ENST00000398473.7|NM_052879.5" +HGNC:24320 LARP4 La ribonucleoprotein 4 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 PP13296 La-related protein 4 "La ribonucleoprotein domain family, member 4|La ribonucleoprotein domain family member 4" La ribonucleoproteins 625 2005-06-16 2019-08-28 2023-01-20 113251 ENSG00000161813 OTTHUMG00000163724 uc001rwp.3 AY004310 NM_052879 "CCDS44880|CCDS53789|CCDS44879|CCDS81690|CCDS86300|CCDS41782|CCDS53790" Q71RC2 "21098120|28895529|28782243" MGI:2443114 RGD:6499275 618657 HGNC:24320 "ENST00000398473.7|NM_052879.5" HGNC:28987 LARP4B La ribonucleoprotein 4B protein-coding gene gene with protein product Approved 10p15.3 10p15.3 "KIAA0217|LARP5" "KIAA0217|La ribonucleoprotein domain family, member 5|La ribonucleoprotein domain family, member 4B|La ribonucleoprotein domain family member 4B" La ribonucleoproteins 625 2004-04-06 2009-06-09 2019-08-28 2023-01-20 23185 ENSG00000107929 OTTHUMG00000017534 uc031ptb.1 D86971 NM_015155 CCDS31131 Q92615 "9039502|20573744" MGI:106330 RGD:1310713 616513 HGNC:28987 "ENST00000316157.8|NM_015155.3" HGNC:55786 LARP4B-DT LARP4B divergent transcript non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 Divergent transcripts 1990 2021-07-28 2021-07-28 101927762 ENSG00000229869 NR_120629 HGNC:21438 LARP4P LARP4 pseudogene pseudogene pseudogene Approved 15q14 15q14 "La ribonucleoprotein domain family, member 4 pseudogene|La ribonucleoprotein domain family member 4 pseudogene" 2005-06-16 2019-08-28 2019-08-28 554354 ENSG00000261315 OTTHUMG00000172661 NG_034055 PGOHUM00000293216 HGNC:21438 HGNC:24012 LARP6 La ribonucleoprotein 6, translational regulator protein-coding gene gene with protein product Approved 15q23 15q23 "acheron|FLJ11196" "La ribonucleoprotein domain family, member 6|La ribonucleoprotein domain family member 6" La ribonucleoproteins 625 2005-06-16 2019-08-28 2023-01-20 55323 ENSG00000166173 OTTHUMG00000172179 uc002ass.5 BC009446 NM_018357 "CCDS32281|CCDS10236" Q9BRS8 "23918805|23755290" MGI:1914807 RGD:1308414 611300 HGNC:24012 "ENST00000299213.10|NM_018357.4" -HGNC:24912 LARP7 La ribonucleoprotein 7, transcriptional regulator protein-coding gene gene with protein product Approved 4q25 04q25 "HDCMA18P|PIP7S|DKFZP564K112" P-TEFb-interaction protein for 7SK stability "La ribonucleoprotein domain family, member 7|La ribonucleoprotein domain family member 7" "La ribonucleoproteins|RNA binding motif containing|7SK snRNP complex" "625|725|1676" 2006-07-05 2019-08-28 2023-01-20 51574 ENSG00000174720 OTTHUMG00000132909 uc003iay.5 AF068284 NM_016648 "CCDS93571|CCDS93568|CCDS93569|CCDS3701|CCDS93570" Q4G0J3 "18191186|18249148|18281698|22865833|22488152" MGI:107634 RGD:1592474 612026 320199 HGNC:24912 "ENST00000344442.10|NM_016648.4" HGNC:24912 +HGNC:24912 LARP7 La ribonucleoprotein 7, transcriptional regulator protein-coding gene gene with protein product Approved 4q25 04q25 "HDCMA18P|PIP7S|DKFZP564K112" P-TEFb-interaction protein for 7SK stability "La ribonucleoprotein domain family, member 7|La ribonucleoprotein domain family member 7" "La ribonucleoproteins|RNA binding motif containing|7SK snRNP complex" "625|725|1676" 2006-07-05 2019-08-28 2023-01-20 51574 ENSG00000174720 OTTHUMG00000132909 uc003iay.5 AF068284 NM_016648 "CCDS93570|CCDS93569|CCDS93571|CCDS93568|CCDS3701" Q4G0J3 "18191186|18249148|18281698|22865833|22488152" MGI:107634 RGD:1592474 612026 320199 HGNC:24912 "ENST00000344442.10|NM_016648.4" HGNC:24912 HGNC:49763 LARP7P1 LARP7 pseudogene 1 pseudogene pseudogene Approved 1q32.1 01q32.1 "La ribonucleoprotein domain family, member 7 pseudogene 1|La ribonucleoprotein domain family member 7 pseudogene 1" 2014-02-14 2019-08-28 2019-08-28 106480287 ENSG00000271588 OTTHUMG00000184464 NG_044157 PGOHUM00000244394 HGNC:49763 HGNC:49764 LARP7P2 LARP7 pseudogene 2 pseudogene pseudogene Approved 16p12.3 16p12.3 "La ribonucleoprotein domain family, member 7 pseudogene 2|La ribonucleoprotein domain family member 7 pseudogene 2" 2014-02-14 2019-08-28 2019-08-28 106481699 ENSG00000261939 OTTHUMG00000177625 NG_043198 PGOHUM00000248749 HGNC:49764 HGNC:49765 LARP7P3 LARP7 pseudogene 3 pseudogene pseudogene Approved 18q22.2 18q22.2 "La ribonucleoprotein domain family, member 7 pseudogene 3|La ribonucleoprotein domain family member 7 pseudogene 3" 2014-02-14 2019-08-28 2019-08-28 106481700 ENSG00000265698 OTTHUMG00000178697 NG_043207 PGOHUM00000235095 HGNC:49765 HGNC:49766 LARP7P4 LARP7 pseudogene 4 pseudogene pseudogene Approved 3q24 03q24 "La ribonucleoprotein domain family, member 7 pseudogene 4|La ribonucleoprotein domain family member 7 pseudogene 4" 2014-02-14 2019-08-28 2019-08-28 100421509 ENSG00000244024 OTTHUMG00000159390 NG_025752 PGOHUM00000250309 HGNC:49766 HGNC:56664 LARRPM LINC00240 antisense RNA regulating promoter methylation non-coding RNA RNA, long non-coding Approved 6p22.2 06p22.2 Long non-coding RNAs with non-systematic symbols 1992 2022-12-09 2022-12-09 100270746 ENSG00000287966 NR_026776 36221069 -HGNC:6512 LARS1 leucyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5q32 05q32 "HSPC192|FLJ10595|FLJ21788|LEUS|RNTLS" leucine tRNA ligase 1, cytoplasmic LARS leucyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 2001-06-22 2019-07-15 2019-07-15 2023-01-20 51520 ENSG00000133706 OTTHUMG00000163429 uc003lnx.2 AF151026 NM_020117 "CCDS34265|CCDS93797|CCDS83029|CCDS93798" Q9P2J5 6933703 MGI:1913808 RGD:1304962 151350 376888 6.1.1.4 HGNC:6512 "ENST00000394434.7|NM_020117.11" HGNC:6512 +HGNC:6512 LARS1 leucyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5q32 05q32 "HSPC192|FLJ10595|FLJ21788|LEUS|RNTLS" leucine tRNA ligase 1, cytoplasmic LARS leucyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 2001-06-22 2019-07-15 2019-07-15 2023-01-20 51520 ENSG00000133706 OTTHUMG00000163429 uc003lnx.2 AF151026 NM_020117 "CCDS93798|CCDS83029|CCDS34265|CCDS93797" Q9P2J5 6933703 MGI:1913808 RGD:1304962 151350 376888 6.1.1.4 HGNC:6512 "ENST00000394434.7|NM_020117.11" HGNC:6512 HGNC:17095 LARS2 leucyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "KIAA0028|LEURS|MGC26121|mtLeuRS" leucine tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 2003-09-01 2016-03-14 2023-01-20 23395 ENSG00000011376 OTTHUMG00000133177 uc062ixh.1 AJ312685 NM_015340 CCDS2728 Q15031 "20194621|15123417|10684970" MGI:2142973 RGD:1308429 LRG_1353|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1353.xml 604544 331972 6.1.1.4 HGNC:17095 "ENST00000645846.2|NM_015340.4" HGNC:17095 HGNC:40796 LARS2-AS1 LARS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 LARS2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100885795 ENSG00000232455 OTTHUMG00000156654 uc031rzd.2 NR_048543 LARS2-AS1 HGNC:40796 -HGNC:25726 LAS1L LAS1 like ribosome biogenesis factor protein-coding gene gene with protein product Approved Xq12 Xq12 "FLJ12525|Las1" LAS1-like (S. cerevisiae) Large ribosomal subunit biogenesis complex 1301 2005-01-26 2019-08-23 2023-01-20 81887 ENSG00000001497 OTTHUMG00000021720 uc004dwa.3 BC014545 NM_031206 "CCDS94620|CCDS14381|CCDS94621|CCDS55434|CCDS55433|CCDS94622" Q9Y4W2 22190735 MGI:1923380 RGD:1565755 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LAS1L 300964 406910 HGNC:25726 "ENST00000374811.8|NM_031206.7" HGNC:25726 +HGNC:25726 LAS1L LAS1 like ribosome biogenesis factor protein-coding gene gene with protein product Approved Xq12 Xq12 "FLJ12525|Las1" LAS1-like (S. cerevisiae) Large ribosomal subunit biogenesis complex 1301 2005-01-26 2019-08-23 2023-01-20 81887 ENSG00000001497 OTTHUMG00000021720 uc004dwa.3 BC014545 NM_031206 "CCDS55434|CCDS55433|CCDS94621|CCDS94622|CCDS94620|CCDS14381" Q9Y4W2 22190735 MGI:1923380 RGD:1565755 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LAS1L 300964 406910 HGNC:25726 "ENST00000374811.8|NM_031206.7" HGNC:25726 HGNC:6513 LASP1 LIM and SH3 protein 1 protein-coding gene gene with protein product Approved 17q12 17q12 "MLN50|Lasp-1" "LIM domain containing|MicroRNA protein coding host genes|Nebulin family" "1218|1691|2240" 1997-05-22 2023-01-20 3927 ENSG00000002834 OTTHUMG00000133182 uc002hra.3 NM_006148 "CCDS62164|CCDS11331" Q14847 "7490069|25622104" MGI:109656 RGD:68408 LASP1 602920 HGNC:6513 "ENST00000318008.11|NM_006148.4" HGNC:44353 LASP1NB LASP1 neighbor protein-coding gene gene with protein product Approved 17q12 17q12 LINC00672 long intergenic non-protein coding RNA 672 2012-08-17 2022-12-09 2022-12-09 2022-12-09 100505576 ENSG00000263874 OTTHUMG00000178440 uc002hrb.3 "AK090935|BC009632" NM_001414697 A0A1B0GWH6 28232485 MGI:1915377 617544 LINC00672 HGNC:44353 HGNC:54143 LASTR lncRNA associated with SART3 regulation of splicing non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 LINC02657 long intergenic non-protein coding RNA 2657 Long non-coding RNAs with non-systematic symbols 1992 2018-12-07 2020-01-22 2020-01-22 2020-01-22 105376382 ENSG00000242147 NR_134491 31956895 618938 HGNC:54143 HGNC:18874 LAT linker for activation of T cells protein-coding gene gene with protein product Approved 16q13 16q13 LAT1 linker for activation of T cells, transmembrane adaptor 2002-07-12 2017-12-06 2023-01-20 27040 ENSG00000213658 OTTHUMG00000131761 uc002dsd.4 AF036905 NM_001014987 O43561 9489702 MGI:1342293 RGD:620802 602354 HGNC:18874 "ENST00000395456.7|NM_001014987.2" HGNC:18874 HGNC:12749 LAT2 linker for activation of T cells family member 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WSCR5|HSPC046|LAB|NTAL" "linker for activation of B cells|non-T cell activation linker|linker for activation of T cells, transmembrane adaptor 2" "WBSCR15|WBSCR5" "Williams-Beuren syndrome chromosome region 5|linker for activation of T cells family, member 2|linker for activation of T-cells family member 2" 1997-09-12 2005-04-26 2017-12-06 2023-01-20 7462 ENSG00000086730 OTTHUMG00000130151 uc003uai.4 AF257135 NM_014146 CCDS5566 Q9GZY6 "8812460|12514734" MGI:1926479 RGD:631397 605719 HGNC:12749 "ENST00000460943.6|NM_032464.3" -HGNC:6514 LATS1 large tumor suppressor kinase 1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 WARTS "LATS (large tumor suppressor, Drosophila) homolog 1|LATS, large tumor suppressor, homolog 1 (Drosophila)" AGC family kinases 1625 1999-02-18 2013-04-25 2023-01-20 9113 ENSG00000131023 OTTHUMG00000016437 uc003qmu.2 AF104413 NM_004690 "CCDS34551|CCDS59040" O95835 "9988268|15122335" MGI:1333883 RGD:1564085 LATS1 603473 470588 objectId:1515 HGNC:6514 "ENST00000543571.6|NM_004690.4" +HGNC:6514 LATS1 large tumor suppressor kinase 1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 WARTS "LATS (large tumor suppressor, Drosophila) homolog 1|LATS, large tumor suppressor, homolog 1 (Drosophila)" AGC family kinases 1625 1999-02-18 2013-04-25 2023-01-20 9113 ENSG00000131023 OTTHUMG00000016437 uc003qmu.2 AF104413 NM_004690 "CCDS59040|CCDS34551" O95835 "9988268|15122335" MGI:1333883 RGD:1564085 LATS1 603473 470588 objectId:1515 HGNC:6514 "ENST00000543571.6|NM_004690.4" HGNC:6515 LATS2 large tumor suppressor kinase 2 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "LATS (large tumor suppressor, Drosophila) homolog 2|LATS, large tumor suppressor, homolog 2 (Drosophila)" AGC family kinases 1625 1999-12-07 2013-04-25 2023-01-20 26524 ENSG00000150457 OTTHUMG00000016531 uc001unr.6 AB028019 NM_014572 CCDS9294 Q9NRM7 10673337 MGI:1354386 RGD:1305906 LATS2 604861 objectId:1516 HGNC:6515 "ENST00000382592.5|NM_014572.3" HGNC:39912 LATS2-AS1 LATS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 LATS2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874066 ENSG00000233851 OTTHUMG00000016527 uc058vus.1 LATS2-AS1 -HGNC:26005 LAX1 lymphocyte transmembrane adaptor 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "LAX|FLJ20340" "LAT-like membrane associated protein|linker for activation of x cells" 2005-04-25 2023-01-20 54900 ENSG00000122188 OTTHUMG00000035908 uc001haa.4 AK000347 NM_017773 "CCDS44297|CCDS1441" Q8IWV1 12359715 MGI:2443362 RGD:1563522 619622 HGNC:26005 "ENST00000442561.7|NM_017773.4" +HGNC:26005 LAX1 lymphocyte transmembrane adaptor 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "LAX|FLJ20340" "LAT-like membrane associated protein|linker for activation of x cells" 2005-04-25 2023-01-20 54900 ENSG00000122188 OTTHUMG00000035908 uc001haa.4 AK000347 NM_017773 "CCDS1441|CCDS44297" Q8IWV1 12359715 MGI:2443362 RGD:1563522 619622 HGNC:26005 "ENST00000442561.7|NM_017773.4" HGNC:29471 LAYN layilin protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "FLJ30977|FLJ31092" C-type lectin domain containing 1298 2005-11-14 2023-01-20 143903 ENSG00000204381 OTTHUMG00000166721 uc001plp.3 NM_178834 "CCDS31676|CCDS58178|CCDS58179" Q6UX15 15913605 MGI:2685357 RGD:1564444 618843 HGNC:29471 "ENST00000375614.7|NM_178834.5" HGNC:29532 LBH LBH regulator of WNT signaling pathway protein-coding gene gene with protein product Approved 2p23.1 02p23.1 "limb bud and heart development homolog (mouse)|limb bud and heart development" 2006-10-13 2019-04-11 2023-01-20 81606 ENSG00000213626 OTTHUMG00000152051 uc002rne.3 AF110224 NM_030915 CCDS33173 Q53QV2 "11230166|11336496" MGI:1925139 RGD:1584525 611763 HGNC:29532 "ENST00000395323.9|NM_030915.4" HGNC:28351 LBHD1 LBH domain containing 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 MGC2477 C11orf48 chromosome 11 open reading frame 48 2005-12-22 2014-10-09 2014-10-09 2023-01-20 79081 ENSG00000162194 OTTHUMG00000187541 BC001434 NM_024099 "CCDS91492|CCDS8028" Q9BQE6 12477932 MGI:5516029 HGNC:28351 "ENST00000354588.8|NM_024099.5" @@ -14694,7 +14695,7 @@ HGNC:6517 LBP lipopolysaccharide binding protein protein-coding gene gene with p HGNC:6518 LBR lamin B receptor protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "DHCR14B|TDRD18" tudor domain containing 18 Tudor domain containing 780 1995-04-27 2023-01-20 3930 ENSG00000143815 OTTHUMG00000037520 uc001hoz.4 L25931 NM_002296 CCDS1545 Q14739 "8157663|9878250" MGI:2138281 RGD:620813 600024 123003 HGNC:6518 "ENST00000272163.9|NM_002296.4" HGNC:6518 HGNC:16960 LBX1 ladybird homeobox 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "LBX1H|HPX6" ladybird homeobox homolog 1 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2005-04-28 2007-02-15 2023-01-20 10660 ENSG00000138136 OTTHUMG00000018927 uc001ksx.4 X90828 NM_006562 CCDS31270 P52954 8645601 MGI:104867 RGD:1564197 604255 8452 HGNC:16960 "ENST00000370193.4|NM_006562.5" HGNC:48678 LBX1-AS1 LBX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.32 10q24.32 FLJ41350 LBX1 antisense RNA 1 (head to head) Antisense RNAs 1987 2013-06-06 2018-03-23 2018-03-23 399806 ENSG00000227128 OTTHUMG00000170500 "AK096698|AK123344|AK294034" NR_029380 LBX1-AS1 HGNC:48678 -HGNC:15525 LBX2 ladybird homeobox 2 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 ladybird homeobox homolog 2 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2001-06-26 2007-02-15 2023-01-20 85474 ENSG00000179528 OTTHUMG00000170595 uc061kxh.1 AC005041 NM_001009812 "CCDS33228|CCDS62938" Q6XYB7 11386758 MGI:1342288 RGD:1561172 607164 8412 HGNC:15525 "ENST00000377566.9|NM_001282430.2" +HGNC:15525 LBX2 ladybird homeobox 2 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 ladybird homeobox homolog 2 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2001-06-26 2007-02-15 2023-01-20 85474 ENSG00000179528 OTTHUMG00000170595 uc061kxh.1 AC005041 NM_001009812 "CCDS62938|CCDS33228" Q6XYB7 11386758 MGI:1342288 RGD:1561172 607164 8412 HGNC:15525 "ENST00000377566.9|NM_001282430.2" HGNC:25136 LBX2-AS1 LBX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p13.1 02p13.1 LBX2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2014-06-09 151534 ENSG00000257702 OTTHUMG00000170509 uc061kxm.1 "AK125271|AK096725" NR_024606 24905231 LBX2-AS1 HGNC:25136 HGNC:31923 LCA5 lebercilin LCA5 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 C6orf152 "chromosome 6 open reading frame 152|Leber congenital amaurosis 5" 2005-02-23 2019-01-21 2023-01-20 167691 ENSG00000135338 OTTHUMG00000015080 uc003piy.3 NM_181714 CCDS4990 Q86VQ0 "10631161|17546029" MGI:1923032 RGD:1308555 611408 140526 HGNC:31923 "ENST00000369846.9|NM_001122769.3" HGNC:31923 HGNC:1255 LCA5L lebercilin LCA5 like protein-coding gene gene with protein product Approved 21q22.2 21q22.2 MGC33295 C21orf13 "chromosome 21 open reading frame 13|Leber congenital amaurosis 5-like" 2000-05-23 2007-12-18 2019-01-21 2023-01-20 150082 ENSG00000157578 OTTHUMG00000066280 uc062afa.1 AF121781 NM_152505 "CCDS13665|CCDS93098" O95447 MGI:3041157 RGD:1562512 HGNC:1255 "ENST00000288350.8|NM_152505.4" @@ -14717,7 +14718,7 @@ HGNC:16612 LCE3C late cornified envelope 3C protein-coding gene gene with protei HGNC:16615 LCE3D late cornified envelope 3D protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP16 "SPRL6B|SPRL6A" small proline rich-like (epidermal differentiation complex) 6B Late cornified envelope proteins 627 2001-10-26 2004-10-15 2004-05-21 2023-01-20 84648 ENSG00000163202 OTTHUMG00000012384 uc001fab.4 BI670519 NM_032563 CCDS1014 Q9BYE3 11698679 "MGI:1913594|MGI:1916764|MGI:1916770|MGI:2135932|MGI:3642919|MGI:3645650" 612616 HGNC:16615 "ENST00000368787.4|NM_032563.2" HGNC:29463 LCE3E late cornified envelope 3E protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP17 Late cornified envelope proteins 627 2004-10-11 2023-01-20 353145 ENSG00000185966 OTTHUMG00000012393 uc001faa.5 NM_178435 CCDS1013 Q5T5B0 11698679 "MGI:1913594|MGI:1916770|MGI:2135932|MGI:3645650" 612617 HGNC:29463 "ENST00000368789.2|NM_178435.4" HGNC:16613 LCE4A late cornified envelope 4A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP8 SPRL4A small proline rich-like (epidermal differentiation complex) 4A Late cornified envelope proteins 627 2001-10-26 2004-10-15 2004-10-11 2023-01-20 199834 ENSG00000187170 OTTHUMG00000014394 uc057lag.1 BI670517 NM_178356 CCDS1022 Q5TA78 11698679 612618 HGNC:16613 "ENST00000368777.2|NM_001387222.1" -HGNC:16614 LCE5A late cornified envelope 5A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP18 SPRL5A small proline rich-like (epidermal differentiation complex) 5A Late cornified envelope proteins 627 2001-10-26 2004-10-15 2004-10-11 2023-01-20 254910 ENSG00000186207 OTTHUMG00000014401 uc001ezy.3 BI670518 NM_178438 CCDS1011 Q5TCM9 11698679 MGI:1915944 RGD:7624666 612619 HGNC:16614 "ENST00000334269.3|NM_178438.5" +HGNC:16614 LCE5A late cornified envelope 5A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP18 SPRL5A small proline rich-like (epidermal differentiation complex) 5A Late cornified envelope proteins 627 2001-10-26 2004-10-15 2004-10-11 2023-01-20 254910 ENSG00000186207 OTTHUMG00000014401 uc001ezy.3 BI670518 NM_178438 CCDS1011 Q5TCM9 11698679 MGI:1915944 612619 HGNC:16614 "ENST00000334269.3|NM_178438.5" HGNC:31824 LCE6A late cornified envelope 6A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 C1orf44 chromosome 1 open reading frame 44 Late cornified envelope proteins 627 2004-09-16 2006-09-18 2006-09-18 2023-01-20 448835 ENSG00000235942 OTTHUMG00000012448 uc001fas.5 DQ991251 NM_001128600 A0A183 MGI:1925632 RGD:2319721 HGNC:31824 "ENST00000431011.3|NM_001128600.2" HGNC:55921 LCE7A late cornified envelope 7A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 2021-10-15 2021-10-15 122526777 ENSG00000285946 NM_001395990 P0DV60 34112911 HGNC:31806 LCEP1 late cornified envelope pseudogene 1 pseudogene pseudogene Approved 1q21.3 01q21.3 2004-10-11 2018-05-02 450208 ENSG00000233819 OTTHUMG00000012400 NG_006116 15854049 HGNC:31806 @@ -14727,7 +14728,7 @@ HGNC:31808 LCEP4 late cornified envelope pseudogene 4 pseudogene pseudogene Appr HGNC:56346 LCIIAR lung cancer immune cell infiltration associated lncRNA non-coding RNA RNA, long non-coding Approved 15q13.1 15q13.1 Long non-coding RNAs with non-systematic symbols 1992 2022-10-05 2022-10-05 100130111 ENSG00000256802 NR_135221 35860557 HGNC:6524 LCK LCK proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 1p35.2 01p35.2 lymphocyte-specific protein tyrosine kinase "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1986-01-01 2014-06-25 2023-01-20 3932 ENSG00000182866 OTTHUMG00000007463 uc001bux.3 M36881 NM_005356 "CCDS90908|CCDS359" P06239 2787474 MGI:96756 RGD:2994 LRG_153|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_153.xml LCK 153390 280151 objectId:2053 2.7.10.1 HGNC:6524 "ENST00000336890.10|NM_005356.5" HGNC:6524 HGNC:26756 LCLAT1 lysocardiolipin acyltransferase 1 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 "FLJ37965|ALCAT1|AGPAT8|LPLAT6" "acyl-CoA:lysocardiolipin acyltransferase 1|1ysophospholipid acyltransferase 6" LYCAT lysocardiolipin acyltransferase 1-acylglycerol-3-phosphate O-acyltransferases 46 2004-10-28 2008-12-15 2008-12-15 2023-01-20 253558 ENSG00000172954 OTTHUMG00000099349 uc002rnl.4 AK095284 NM_182551 "CCDS1772|CCDS42670" Q6UWP7 "18931347|15152008|16620771|17675553" MGI:2684937 RGD:1565906 614241 HGNC:26756 "ENST00000379509.8|NM_001002257.3" -HGNC:17557 LCMT1 leucine carboxyl methyltransferase 1 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "CGI-68|PPMT1" "protein phosphatase methyltransferase 1|[phosphatase 2A protein]-leucine-carboxy methyltransferase" "Protein phosphatase 2 modulatory subunits|7BS protein methyltransferases" "1265|2058" 2003-01-29 2023-01-20 51451 ENSG00000205629 OTTHUMG00000177182 uc002dnx.2 AF037601 NM_016309 "CCDS45446|CCDS45445" Q9UIC8 10810093 MGI:1353593 RGD:735118 610286 2.1.1.233 HGNC:17557 "ENST00000399069.8|NM_016309.3" +HGNC:17557 LCMT1 leucine carboxyl methyltransferase 1 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "CGI-68|PPMT1" "protein phosphatase methyltransferase 1|[phosphatase 2A protein]-leucine-carboxy methyltransferase" "Protein phosphatase 2 modulatory subunits|7BS protein methyltransferases" "1265|2058" 2003-01-29 2023-01-20 51451 ENSG00000205629 OTTHUMG00000177182 uc002dnx.2 AF037601 NM_016309 "CCDS45445|CCDS45446" Q9UIC8 10810093 MGI:1353593 RGD:735118 610286 2.1.1.233 HGNC:17557 "ENST00000399069.8|NM_016309.3" HGNC:51177 LCMT1-AS1 LCMT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 Antisense RNAs 1987 2014-08-01 2014-08-01 102723510 ENSG00000260448 OTTHUMG00000177185 NR_120306 LCMT1-AS1 HGNC:51177 HGNC:51178 LCMT1-AS2 LCMT1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 Antisense RNAs 1987 2014-08-01 2014-08-01 100506655 ENSG00000260034 OTTHUMG00000177183 NR_039998 LCMT1-AS2 HGNC:51178 HGNC:17558 LCMT2 leucine carboxyl methyltransferase 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "KIAA0547|MGC9534|TYW4|PPM2" tRNA-yW synthesizing protein 4 7BS DNA/RNA methyltransferases 2059 2003-01-29 2023-01-20 9836 ENSG00000168806 OTTHUMG00000130705 uc001zrg.4 AF265443 NM_014793 CCDS10094 O60294 "9628581|17150819" MGI:1353659 RGD:1305829 611246 HGNC:17558 "ENST00000305641.7|NM_014793.5" @@ -14738,25 +14739,25 @@ HGNC:6526 LCN2 lipocalin 2 protein-coding gene gene with protein product Approve HGNC:17337 LCN6 lipocalin 6 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "Lipocalins|MicroRNA protein coding host genes" "631|1691" 2002-01-11 2023-01-20 158062 ENSG00000267206 OTTHUMG00000020941 uc004ciy.4 AF303084 NM_198946 CCDS7005 P62502 MGI:3045364 RGD:1302986 609379 HGNC:17337 "ENST00000341206.9|NM_198946.3" HGNC:27038 LCN8 lipocalin 8 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 LCN5 "chromosome 9 open reading frame 137|lipocalin 5" Lipocalins 631 2005-01-11 2005-01-11 2023-01-20 138307 ENSG00000204001 OTTHUMG00000020942 uc004cjb.2 AK124003 NM_178469 "CCDS87717|CCDS35183" Q6JVE9 MGI:2135945 RGD:1306747 612902 HGNC:27038 "ENST00000371688.8|NM_178469.4" HGNC:17442 LCN9 lipocalin 9 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MUP-like lipocalin|epididymal-specific lipocalin-9" Lipocalins 631 2005-01-11 2023-03-15 392399 ENSG00000148386 OTTHUMG00000020916 uc064wzo.1 AY301270 NM_001001676 CCDS94528 Q8WX39 15363845 MGI:1924954 RGD:1306341 612903 HGNC:17442 "ENST00000619315.2|NM_001393661.1" -HGNC:20892 LCN10 lipocalin 10 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 Lipocalins 631 2005-01-11 2023-01-20 414332 ENSG00000187922 OTTHUMG00000150428 uc004civ.4 AY301271 NM_001001712 "CCDS94537|CCDS35182|CCDS94536" Q6JVE6 15363845 MGI:1925000 RGD:1564362 612904 HGNC:20892 "ENST00000497771.6|NM_001001712.3" +HGNC:20892 LCN10 lipocalin 10 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 Lipocalins 631 2005-01-11 2023-01-20 414332 ENSG00000187922 OTTHUMG00000150428 uc004civ.4 AY301271 NM_001001712 "CCDS94536|CCDS35182|CCDS94537" Q6JVE6 15363845 MGI:1925000 RGD:1564362 612904 HGNC:20892 "ENST00000497771.6|NM_001001712.3" HGNC:28733 LCN12 lipocalin 12 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC48935 Lipocalins 631 2005-01-11 2007-12-18 2023-01-20 286256 ENSG00000184925 OTTHUMG00000020968 uc004ckb.4 BC041168 NM_178536 CCDS7018 Q6JVE5 15363845 MGI:1924951 RGD:1589474 612905 HGNC:28733 "ENST00000371633.8|NM_178536.4" HGNC:28733 HGNC:33777 LCN15 lipocalin 15 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "UNQ2541|PRO6093" Lipocalins 631 2009-02-27 2023-01-20 389812 ENSG00000177984 OTTHUMG00000020943 uc004cjd.3 NM_203347 CCDS7006 Q6UWW0 MGI:5592908 HGNC:33777 "ENST00000316144.6|NM_203347.2" HGNC:34436 LCNL1 lipocalin like 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FLJ45224 2009-02-27 2016-06-13 2023-01-20 401562 ENSG00000214402 OTTHUMG00000159546 uc004ckh.2 NM_207510 CCDS43908 Q6ZST4 HGNC:34436 "ENST00000408973.3|NM_207510.4" -HGNC:29503 LCOR ligand dependent nuclear receptor corepressor protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "MLR2|FLJ38026|KIAA1795|DKFZP564P1916|FLJ13022" C10orf12 chromosome 10 open reading frame 12 2006-06-14 2023-01-20 84458 ENSG00000196233 OTTHUMG00000018841 uc021pwp.2 NM_001170765 "CCDS7451|CCDS86132|CCDS53561" Q96JN0 "12535528|15193453|24550272" MGI:2443930 RGD:1311704 607698 HGNC:29503 "ENST00000421806.4|NM_001346516.2" -HGNC:30776 LCORL ligand dependent nuclear receptor corepressor like protein-coding gene gene with protein product Approved 4p15.31 04p15.31 "MLR1|FLJ30696" ligand dependent nuclear receptor corepressor-like 2006-06-14 2015-11-13 2023-01-20 254251 ENSG00000178177 OTTHUMG00000128538 uc021xmr.2 NM_153686 "CCDS54749|CCDS3425|CCDS93486|CCDS93484|CCDS93485" Q8N3X6 12560079 MGI:2651932 RGD:1561241 611799 HGNC:30776 "ENST00000635767.2|NM_001394446.1" +HGNC:29503 LCOR ligand dependent nuclear receptor corepressor protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "MLR2|FLJ38026|KIAA1795|DKFZP564P1916|FLJ13022" C10orf12 chromosome 10 open reading frame 12 2006-06-14 2023-01-20 84458 ENSG00000196233 OTTHUMG00000018841 uc021pwp.2 NM_001170765 "CCDS86132|CCDS7451|CCDS53561" Q96JN0 "12535528|15193453|24550272" MGI:2443930 RGD:1311704 607698 HGNC:29503 "ENST00000421806.4|NM_001346516.2" +HGNC:30776 LCORL ligand dependent nuclear receptor corepressor like protein-coding gene gene with protein product Approved 4p15.31 04p15.31 "MLR1|FLJ30696" ligand dependent nuclear receptor corepressor-like 2006-06-14 2015-11-13 2023-01-20 254251 ENSG00000178177 OTTHUMG00000128538 uc021xmr.2 NM_153686 "CCDS93486|CCDS3425|CCDS54749|CCDS93484|CCDS93485" Q8N3X6 12560079 MGI:2651932 RGD:1561241 611799 HGNC:30776 "ENST00000635767.2|NM_001394446.1" HGNC:56426 LCORLP1 LCORL pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 2022-10-19 2022-10-19 127379700 ENSG00000240568 PGOHUM00000299459 HGNC:6528 LCP1 lymphocyte cytosolic protein 1 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "PLS2|CP64|L-PLASTIN|LC64P" plastin 2 lymphocyte cytosolic protein 1 (L-plastin) EF-hand domain containing 863 1986-01-01 2016-04-05 2023-01-20 3936 ENSG00000136167 OTTHUMG00000016864 uc058wwe.1 M22300 NM_002298 CCDS9403 P13796 2111166 MGI:104808 RGD:1308288 153430 HGNC:6528 "ENST00000323076.7|NM_002298.5" HGNC:6529 LCP2 lymphocyte cytosolic protein 2 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 SLP-76 "76 kDa tyrosine phosphoprotein|SH2 domain-containing leukocyte protein of 76kD" SLP76 "lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)|lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)" SH2 domain containing 741 1996-03-12 2015-11-10 2023-01-20 3937 ENSG00000043462 OTTHUMG00000163121 uc003man.2 NM_005565 CCDS47339 Q13094 7706237 MGI:1321402 RGD:619743 601603 HGNC:6529 "ENST00000046794.10|NM_005565.5" HGNC:6530 LCT lactase protein-coding gene gene with protein product Approved 2q21.3 02q21.3 Glycoside hydrolase family 1 1652 1989-05-29 2023-01-20 3938 ENSG00000115850 OTTHUMG00000131738 uc002tuu.2 X07994 NM_002299 CCDS2178 P09848 MGI:104576 RGD:620823 LRG_338|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_338.xml 603202 123008 "3.2.1.108|3.2.1.62" HGNC:6530 "ENST00000264162.7|NM_002299.4" HGNC:6530 HGNC:40337 LCT-AS1 LCT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.3 02q21.3 Antisense RNAs 1987 2019-08-16 2021-11-18 100507600 ENSG00000226806 OTTHUMG00000153579 NR_045486 29429387 HGNC:40337 HGNC:15583 LCTL lactase like protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "KLPH|FLJ33279|KLG" "klotho gamma|KL lactase phlorizin hydrolase|gammaklotho" Glycoside hydrolase family 1 1652 2005-07-26 2015-11-23 2023-01-20 197021 ENSG00000188501 OTTHUMG00000133207 uc002aqc.5 AY358729 NM_207338 "CCDS10220|CCDS61678" Q6UWM7 12084582 MGI:2183549 RGD:1305177 617060 HGNC:15583 "ENST00000695545.1|NM_207338.4" -HGNC:30136 LDAF1 lipid droplet assembly factor 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 promethin TMEM159 transmembrane protein 159 2006-06-14 2021-03-12 2021-03-12 2023-01-20 57146 ENSG00000011638 OTTHUMG00000131559 uc002dih.5 AF070596 NM_020422 "CCDS76841|CCDS10595|CCDS76842" Q96B96 "29187527|30901948|31708432" MGI:1925752 RGD:727895 611304 HGNC:30136 "ENST00000233047.9|NM_001301771.2" -HGNC:26145 LDAH lipid droplet associated hydrolase protein-coding gene gene with protein product Approved 2p24.1 02p24.1 FLJ21820 C2orf43 chromosome 2 open reading frame 43 2006-07-26 2015-03-26 2015-03-26 2023-01-20 60526 ENSG00000118961 OTTHUMG00000122097 AK025473 NM_021925 "CCDS62864|CCDS1702|CCDS74488|CCDS74489|CCDS62865" Q9H6V9 "17135363|24357060" MGI:1916082 RGD:1311648 613570 HGNC:26145 "ENST00000237822.8|NM_021925.4" -HGNC:6532 LDB1 LIM domain binding 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "NLI|CLIM2" carboxy terminal LIM domain protein 2 Wnt enhanceosome complex 1677 1999-01-22 2023-01-20 8861 ENSG00000198728 OTTHUMG00000018950 uc001kuk.6 AF068652 NM_001113407 "CCDS44472|CCDS7528|CCDS91327" Q86U70 "9503020|9799849" MGI:894762 RGD:1310359 603451 HGNC:6532 "ENST00000673968.1|NM_001113407.3" -HGNC:6533 LDB2 LIM domain binding 2 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "CLIM1|LDB1" Wnt enhanceosome complex 1677 1999-01-22 2023-01-20 9079 ENSG00000169744 OTTHUMG00000048212 uc003goz.5 AF068651 NM_001130834 "CCDS47031|CCDS3420|CCDS77903|CCDS77902" O43679 "9853615|9880598|10861853" MGI:894670 RGD:1307921 603450 HGNC:6533 "ENST00000304523.10|NM_001290.5" -HGNC:15710 LDB3 LIM domain binding 3 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "PDLIM6|KIAA0613|ZASP" "cypher|oracle|Z-band alternatively spliced PDZ motif protein" CMD1C cardiomyopathy, dilated 1C (autosomal dominant) "LIM domain containing|PDZ domain containing" "1218|1220" 2001-12-04 2023-01-20 11155 ENSG00000122367 OTTHUMG00000018655 uc001kdv.4 AB014513 NM_001080114 "CCDS53550|CCDS41545|CCDS91289|CCDS91290|CCDS41544|CCDS7377|CCDS44450|CCDS53549" O75112 "10427098|23271734|23996002|14662268" MGI:1344412 RGD:1564875 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LDB3|LRG_385|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_385.xml" 605906 123010 HGNC:15710 "ENST00000361373.9|NM_007078.3" HGNC:15710 +HGNC:30136 LDAF1 lipid droplet assembly factor 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 promethin TMEM159 transmembrane protein 159 2006-06-14 2021-03-12 2021-03-12 2023-01-20 57146 ENSG00000011638 OTTHUMG00000131559 uc002dih.5 AF070596 NM_020422 "CCDS76841|CCDS76842|CCDS10595" Q96B96 "29187527|30901948|31708432" MGI:1925752 RGD:727895 611304 HGNC:30136 "ENST00000233047.9|NM_001301771.2" +HGNC:26145 LDAH lipid droplet associated hydrolase protein-coding gene gene with protein product Approved 2p24.1 02p24.1 FLJ21820 C2orf43 chromosome 2 open reading frame 43 2006-07-26 2015-03-26 2015-03-26 2023-01-20 60526 ENSG00000118961 OTTHUMG00000122097 AK025473 NM_021925 "CCDS1702|CCDS62864|CCDS74488|CCDS62865|CCDS74489" Q9H6V9 "17135363|24357060" MGI:1916082 RGD:1311648 613570 HGNC:26145 "ENST00000237822.8|NM_021925.4" +HGNC:6532 LDB1 LIM domain binding 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "NLI|CLIM2" carboxy terminal LIM domain protein 2 Wnt enhanceosome complex 1677 1999-01-22 2023-01-20 8861 ENSG00000198728 OTTHUMG00000018950 uc001kuk.6 AF068652 NM_001113407 "CCDS44472|CCDS91327|CCDS7528" Q86U70 "9503020|9799849" MGI:894762 RGD:1310359 603451 HGNC:6532 "ENST00000673968.1|NM_001113407.3" +HGNC:6533 LDB2 LIM domain binding 2 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "CLIM1|LDB1" Wnt enhanceosome complex 1677 1999-01-22 2023-01-20 9079 ENSG00000169744 OTTHUMG00000048212 uc003goz.5 AF068651 NM_001130834 "CCDS3420|CCDS47031|CCDS77902|CCDS77903" O43679 "9853615|9880598|10861853" MGI:894670 RGD:1307921 603450 HGNC:6533 "ENST00000304523.10|NM_001290.5" +HGNC:15710 LDB3 LIM domain binding 3 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "PDLIM6|KIAA0613|ZASP" "cypher|oracle|Z-band alternatively spliced PDZ motif protein" CMD1C cardiomyopathy, dilated 1C (autosomal dominant) "LIM domain containing|PDZ domain containing" "1218|1220" 2001-12-04 2023-01-20 11155 ENSG00000122367 OTTHUMG00000018655 uc001kdv.4 AB014513 NM_001080114 "CCDS41545|CCDS53549|CCDS44450|CCDS91290|CCDS91289|CCDS41544|CCDS53550|CCDS7377" O75112 "10427098|23271734|23996002|14662268" MGI:1344412 RGD:1564875 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LDB3|LRG_385|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_385.xml" 605906 123010 HGNC:15710 "ENST00000361373.9|NM_007078.3" HGNC:15710 HGNC:49677 LDC1P leucine decarboxylase 1, pseudogene pseudogene pseudogene Approved 1p35.2 01p35.2 LINC01225 "long intergenic non-protein coding RNA 1225|LINC01225 pseudogene" 2014-02-04 2019-06-14 2019-06-14 2019-06-14 149086 ENSG00000260386 OTTHUMG00000174814 NR_034112 "26938303|29108956" MGI:2685699 HGNC:49677 -HGNC:6535 LDHA lactate dehydrogenase A protein-coding gene gene with protein product Approved 11p15.1 11p15.1 2001-06-22 2023-01-20 3939 ENSG00000134333 OTTHUMG00000167721 uc001mok.4 X02152 NM_005566 "CCDS44549|CCDS53609|CCDS53610|CCDS53611|CCDS7839" P00338 3000353 MGI:96759 RGD:2996 150000 123015 1.1.1.27 HGNC:6535 "ENST00000422447.8|NM_005566.4" HGNC:6535 +HGNC:6535 LDHA lactate dehydrogenase A protein-coding gene gene with protein product Approved 11p15.1 11p15.1 2001-06-22 2023-01-20 3939 ENSG00000134333 OTTHUMG00000167721 uc001mok.4 X02152 NM_005566 "CCDS53609|CCDS44549|CCDS53611|CCDS7839|CCDS53610" P00338 3000353 MGI:96759 RGD:2996 150000 123015 1.1.1.27 HGNC:6535 "ENST00000422447.8|NM_005566.4" HGNC:6535 HGNC:28335 LDHAL6A lactate dehydrogenase A like 6A protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "MGC23940|LDH6A" 2004-07-27 2016-04-28 2023-01-20 160287 ENSG00000166800 OTTHUMG00000167724 uc001moq.3 AK131523 NM_144972 CCDS7841 Q6ZMR3 18351441 MGI:2146830 618928 HGNC:28335 "ENST00000280706.3|NM_144972.5" HGNC:21481 LDHAL6B lactate dehydrogenase A like 6B protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "LDHL|LDH6B" LDHAL6 lactate dehydrogenase A-like 6 2004-06-23 2004-07-28 2016-04-28 2023-01-20 92483 ENSG00000171989 OTTHUMG00000132714 uc002agb.5 AY009108 NM_033195 CCDS10171 Q9BYZ2 15870898 MGI:2146830 RGD:727955 HGNC:21481 "ENST00000307144.6|NM_033195.3" HGNC:39423 LDHAL6CP lactate dehydrogenase A like 6C, pseudogene pseudogene pseudogene Approved 12q14.2 12q14.2 LDH6C 2012-07-24 2016-04-28 2017-03-22 121498 ENSG00000250517 OTTHUMG00000160114 NG_021722 19679512 PGOHUM00000291705 HGNC:39423 @@ -14769,24 +14770,24 @@ HGNC:6538 LDHAP3 lactate dehydrogenase A pseudogene 3 pseudogene pseudogene Appr HGNC:6539 LDHAP4 lactate dehydrogenase A pseudogene 4 pseudogene pseudogene Approved 9p22.3 09p22.3 LDHAL4 lactate dehydrogenase A-like 4 1989-05-10 2010-10-19 2010-10-19 2014-11-18 158222 ENSG00000214110 OTTHUMG00000019577 NG_001313 3180843 PGOHUM00000260451 HGNC:6539 HGNC:6540 LDHAP5 lactate dehydrogenase A pseudogene 5 pseudogene pseudogene Approved 10q26.11 10q26.11 LDHAL5 lactate dehydrogenase A-like 5 1989-05-10 2010-10-19 2010-10-19 2014-11-19 729666 ENSG00000213574 OTTHUMG00000019139 NG_008632 3180843 PGOHUM00000238635 HGNC:6540 HGNC:23144 LDHAP7 lactate dehydrogenase A pseudogene 7 pseudogene pseudogene Approved 2p11.2 02p11.2 LDHAL7 lactate dehydrogenase A-like 7 2003-09-18 2010-10-20 2010-10-20 2020-04-20 100190800 ENSG00000235847 OTTHUMG00000152923 NG_008634 PGOHUM00000259738 HGNC:23144 -HGNC:6541 LDHB lactate dehydrogenase B protein-coding gene gene with protein product Approved 12p12.1 12p12.1 2001-06-22 2023-01-20 3945 ENSG00000111716 OTTHUMG00000133760 uc001rfe.4 NM_002300 "CCDS8691|CCDS91663" P07195 477403 MGI:96763 RGD:2997 150100 123017 1.1.1.27 HGNC:6541 "ENST00000350669.5|NM_002300.8" HGNC:6541 +HGNC:6541 LDHB lactate dehydrogenase B protein-coding gene gene with protein product Approved 12p12.1 12p12.1 2001-06-22 2023-01-20 3945 ENSG00000111716 OTTHUMG00000133760 uc001rfe.4 NM_002300 "CCDS91663|CCDS8691" P07195 477403 MGI:96763 RGD:2997 150100 123017 1.1.1.27 HGNC:6541 "ENST00000350669.5|NM_002300.8" HGNC:6541 HGNC:6542 LDHBP1 lactate dehydrogenase B pseudogene 1 pseudogene pseudogene Approved 13q34 13q34 LDHBL1 lactate dehydrogenase B-like 1 1989-05-10 2010-10-20 2010-10-20 2020-04-20 100289475 ENSG00000232662 OTTHUMG00000017383 NG_021974 PGOHUM00000248687 HGNC:6542 HGNC:6543 LDHBP2 lactate dehydrogenase B pseudogene 2 pseudogene pseudogene Approved Xq13.3 Xq13.3 "LDHBP|LDHBL2" "lactate dehydrogenase B pseudogene|lactate dehydrogenase B-like 2" 1989-05-10 2010-10-20 2010-10-20 2011-01-12 3947 ENSG00000213684 OTTHUMG00000021877 M60601 NG_001155 2393406 PGOHUM00000241405 HGNC:6543 HGNC:39136 LDHBP3 lactate dehydrogenase B pseudogene 3 pseudogene pseudogene Approved 5q14.3 05q14.3 2010-10-20 2010-10-20 100129283 ENSG00000248950 OTTHUMG00000160111 NG_016809 PGOHUM00000235310 HGNC:39136 HGNC:6544 LDHC lactate dehydrogenase C protein-coding gene gene with protein product Approved 11p15.1 11p15.1 CT32 cancer/testis antigen 32 2001-06-22 2023-01-20 3948 ENSG00000166796 OTTHUMG00000167722 uc001mon.5 AY286300 NM_017448 CCDS7840 P07864 MGI:96764 RGD:69366 150150 1.1.1.27 HGNC:6544 "ENST00000541669.6|NM_017448.5" -HGNC:19708 LDHD lactate dehydrogenase D protein-coding gene gene with protein product Approved 16q23.1 16q23.1 2002-11-13 2023-01-20 197257 ENSG00000166816 OTTHUMG00000137605 uc002fdm.4 AY092767 NM_153486 "CCDS45529|CCDS10913" Q86WU2 12127981 MGI:106428 RGD:1308107 607490 HGNC:19708 "ENST00000450168.3|NM_194436.3" -HGNC:6547 LDLR low density lipoprotein receptor protein-coding gene gene with protein product Approved 19p13.2 19p13.2 LDLCQ2 familial hypercholesterolemia "Low density lipoprotein receptors|MicroRNA protein coding host genes" "634|1691" 1986-01-01 2008-08-01 2023-03-15 3949 ENSG00000130164 OTTHUMG00000171935 uc002mqk.5 AY114155 NM_000527 "CCDS56083|CCDS56085|CCDS12254|CCDS56084|CCDS58651" P01130 MGI:96765 RGD:2998 "UCL LDLR-LOVD, British Heart Foundation variant database|http://databases.lovd.nl/shared/genes/LDLR|UMD Locus Specific Databases|http://www.umd.be/|LRG_274|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_274.xml" 606945 123021 HGNC:6547 "ENST00000558518.6|NM_000527.5" HGNC:6547 +HGNC:19708 LDHD lactate dehydrogenase D protein-coding gene gene with protein product Approved 16q23.1 16q23.1 2002-11-13 2023-01-20 197257 ENSG00000166816 OTTHUMG00000137605 uc002fdm.4 AY092767 NM_153486 "CCDS10913|CCDS45529" Q86WU2 12127981 MGI:106428 RGD:1308107 607490 HGNC:19708 "ENST00000450168.3|NM_194436.3" +HGNC:6547 LDLR low density lipoprotein receptor protein-coding gene gene with protein product Approved 19p13.2 19p13.2 LDLCQ2 familial hypercholesterolemia "Low density lipoprotein receptors|MicroRNA protein coding host genes" "634|1691" 1986-01-01 2008-08-01 2023-03-15 3949 ENSG00000130164 OTTHUMG00000171935 uc002mqk.5 AY114155 NM_000527 "CCDS56083|CCDS58651|CCDS56085|CCDS12254|CCDS56084" P01130 MGI:96765 RGD:2998 "UCL LDLR-LOVD, British Heart Foundation variant database|http://databases.lovd.nl/shared/genes/LDLR|UMD Locus Specific Databases|http://www.umd.be/|LRG_274|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_274.xml" 606945 123021 HGNC:6547 "ENST00000558518.6|NM_000527.5" HGNC:6547 HGNC:54407 LDLR-AS1 LDLR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 BM450697 Antisense RNAs 1987 2019-08-08 2020-09-09 2020-09-09 115271120 NR_163945 31279228 HGNC:54407 -HGNC:32069 LDLRAD1 low density lipoprotein receptor class A domain containing 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 low density lipoprotein receptor A domain containing 1 2005-07-14 2005-10-07 2023-01-20 388633 ENSG00000203985 OTTHUMG00000008433 uc001cwm.3 NM_001010978 "CCDS60146|CCDS30725|CCDS60145|CCDS60147" Q5T700 MGI:3652166 RGD:1597398 HGNC:32069 "ENST00000371360.2|NM_001010978.4" +HGNC:32069 LDLRAD1 low density lipoprotein receptor class A domain containing 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 low density lipoprotein receptor A domain containing 1 2005-07-14 2005-10-07 2023-01-20 388633 ENSG00000203985 OTTHUMG00000008433 uc001cwm.3 NM_001010978 "CCDS60145|CCDS60147|CCDS30725|CCDS60146" Q5T700 MGI:3652166 RGD:1597398 HGNC:32069 "ENST00000371360.2|NM_001010978.4" HGNC:32071 LDLRAD2 low density lipoprotein receptor class A domain containing 2 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 low density lipoprotein receptor A domain containing 2 2005-07-14 2005-10-07 2023-01-20 401944 ENSG00000187942 OTTHUMG00000002675 uc001bfg.1 AL590103 NM_001013693 CCDS30624 Q5SZI1 MGI:3588210 RGD:1564888 HGNC:32071 "ENST00000344642.7|NM_001013693.3" -HGNC:27046 LDLRAD3 low density lipoprotein receptor class A domain containing 3 protein-coding gene gene with protein product Approved 11p13 11p13 LRAD3 MicroRNA protein coding host genes 1691 2005-10-07 2023-01-20 143458 ENSG00000179241 OTTHUMG00000166313 uc001mwk.2 AK075546 NM_174902 "CCDS76394|CCDS31462" Q86YD5 21795536 MGI:2138856 RGD:1307846 617986 HGNC:27046 "ENST00000315571.6|NM_174902.4" -HGNC:1224 LDLRAD4 low density lipoprotein receptor class A domain containing 4 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 clone 22 C18orf1 chromosome 18 open reading frame 1 MicroRNA protein coding host genes 1691 1998-08-06 2012-10-24 2012-10-24 2023-03-15 753 ENSG00000168675 OTTHUMG00000181925 uc031rhm.2 "AF009424|AF009428" NM_181481 "CCDS32795|CCDS32793|CCDS42415|CCDS62392|CCDS92439|CCDS32794" O15165 "9479497|9129712|24627487" MGI:1277150 RGD:1587105 606571 HGNC:1224 "ENST00000359446.11|NM_001378100.1" +HGNC:27046 LDLRAD3 low density lipoprotein receptor class A domain containing 3 protein-coding gene gene with protein product Approved 11p13 11p13 LRAD3 MicroRNA protein coding host genes 1691 2005-10-07 2023-01-20 143458 ENSG00000179241 OTTHUMG00000166313 uc001mwk.2 AK075546 NM_174902 "CCDS31462|CCDS76394" Q86YD5 21795536 MGI:2138856 RGD:1307846 617986 HGNC:27046 "ENST00000315571.6|NM_174902.4" +HGNC:1224 LDLRAD4 low density lipoprotein receptor class A domain containing 4 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 clone 22 C18orf1 chromosome 18 open reading frame 1 MicroRNA protein coding host genes 1691 1998-08-06 2012-10-24 2012-10-24 2023-03-15 753 ENSG00000168675 OTTHUMG00000181925 uc031rhm.2 "AF009424|AF009428" NM_181481 "CCDS42415|CCDS32795|CCDS32794|CCDS92439|CCDS62392|CCDS32793" O15165 "9479497|9129712|24627487" MGI:1277150 RGD:1587105 606571 HGNC:1224 "ENST00000359446.11|NM_001378100.1" HGNC:48592 LDLRAD4-AS1 LDLRAD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 Antisense RNAs 1987 2013-05-21 2013-05-21 100288122 ENSG00000267690 OTTHUMG00000181929 BC042085 NR_040031 LDLRAD4-AS1 HGNC:48592 HGNC:18640 LDLRAP1 low density lipoprotein receptor adaptor protein 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "ARH|ARH2|FHCB1|FHCB2|MGC34705|DKFZp586D0624" autosomal recessive hypercholesterolemia 2005-02-24 2023-01-20 26119 ENSG00000157978 OTTHUMG00000007386 uc001bkl.5 BC029770 NM_015627 CCDS30639 Q5SW96 MGI:2140175 RGD:1563417 LRG_276|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_276.xml 605747 123023 HGNC:18640 "ENST00000374338.5|NM_015627.3" HGNC:18640 HGNC:6548 LDOC1 LDOC1 regulator of NFKB signaling protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 "Mar7|Mart7|SIRH7|RTL7" "Sushi-Ichi retrotransposon homolog 7|mammalian retrotransposon-derived 7|retrotransposon Gag like 7" BCUR1 leucine zipper down-regulated in cancer 1 Retrotransposon Gag like 1409 2000-05-19 2019-01-21 2023-01-20 23641 ENSG00000182195 OTTHUMG00000022558 uc004fbj.5 AB019527 NM_012317 CCDS14672 O95751 "10403563|15716091|16093683" MGI:2685212 RGD:1565644 300402 HGNC:6548 "ENST00000370526.5|NM_012317.4" HGNC:29571 LEAP2 liver enriched antimicrobial peptide 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 LEAP-2 liver expressed antimicrobial peptide 2 2006-08-22 2016-07-11 2023-01-20 116842 ENSG00000164406 OTTHUMG00000059837 uc003kyc.4 "AJ409065|BX443829" NM_052971 CCDS4163 Q969E1 12493837 MGI:2672795 RGD:1561235 611373 ligandId:9734 HGNC:29571 "ENST00000296877.3|NM_052971.3" HGNC:6550 LECT2 leukocyte cell derived chemotaxin 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "chm-II|chm2" leukocyte cell-derived chemotaxin 2 1997-12-19 2016-01-22 2023-01-20 3950 ENSG00000145826 OTTHUMG00000129146 uc003lbe.1 AB007546 NM_002302 CCDS4190 O14960 9545637 MGI:1278342 RGD:1305404 602882 470590 HGNC:6550 "ENST00000274507.6|NM_002302.3" -HGNC:6551 LEF1 lymphoid enhancer binding factor 1 protein-coding gene gene with protein product Approved 4q25 04q25 "TCF1ALPHA|TCF10|TCF7L3" lymphoid enhancer-binding factor 1 "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1991-06-05 2016-01-13 2023-01-20 51176 ENSG00000138795 OTTHUMG00000131809 uc003hyt.3 NM_001130713 "CCDS54791|CCDS3679|CCDS47122|CCDS47123" Q9UJU2 1783375 MGI:96770 RGD:620241 LEF1 153245 470592 HGNC:6551 "ENST00000265165.6|NM_016269.5" +HGNC:6551 LEF1 lymphoid enhancer binding factor 1 protein-coding gene gene with protein product Approved 4q25 04q25 "TCF1ALPHA|TCF10|TCF7L3" lymphoid enhancer-binding factor 1 "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1991-06-05 2016-01-13 2023-01-20 51176 ENSG00000138795 OTTHUMG00000131809 uc003hyt.3 NM_001130713 "CCDS54791|CCDS47123|CCDS3679|CCDS47122" Q9UJU2 1783375 MGI:96770 RGD:620241 LEF1 153245 470592 HGNC:6551 "ENST00000265165.6|NM_016269.5" HGNC:40339 LEF1-AS1 LEF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q25 04q25 LEF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-28 2012-08-15 2018-08-23 641518 ENSG00000232021 OTTHUMG00000161028 uc062yxd.1 NR_029373 "27591862|28894380" MGI:5663489 LEF1-AS1 HGNC:40339 HGNC:6552 LEFTY1 left-right determination factor 1 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 LEFTYB LEFTB left-right determination, factor B Transforming growth factor beta superfamily 1932 1999-07-09 2004-11-17 2004-11-17 2023-01-20 10637 ENSG00000243709 OTTHUMG00000037443 uc001hpo.3 AF081507 NM_020997 CCDS1548 O75610 "10053005|10886363" MGI:107405 RGD:1561867 603037 470594 HGNC:6552 "ENST00000272134.5|NM_020997.4" HGNC:3122 LEFTY2 left-right determination factor 2 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "LEFTA|LEFTYA" transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A) "TGFB4|EBAF" endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily) Transforming growth factor beta superfamily 1932 1998-01-20 2004-11-17 2004-11-17 2023-01-20 7044 ENSG00000143768 OTTHUMG00000037441 uc001hpt.3 U81523 NM_003240 "CCDS53479|CCDS1549" O00292 9153275 MGI:2443573 601877 168165 HGNC:3122 "ENST00000366820.10|NM_003240.5" @@ -14794,31 +14795,31 @@ HGNC:55878 LEFTY3P left-right determination factor 3, pseudogene pseudogene pseu HGNC:55264 LEISA1 lncRNA enhancing IL-6/STAT3 signaling activation 1 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 LEISA lncRNA enhancing IL-6/STAT3 signaling activation NAV2-AS6 NAV2 antisense RNA 6 "Antisense RNAs|Long non-coding RNAs with non-systematic symbols" "1987|1992" 2020-09-29 2023-02-22 2023-02-22 2023-02-22 100126784 ENSG00000270607 NR_015384 33859372 HGNC:33765 LEKR1 leucine, glutamate and lysine rich 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 FLJ16641 2008-02-21 2008-02-21 2023-03-15 389170 ENSG00000197980 OTTHUMG00000160130 uc021xgh.1 AK131473 NM_001004316 CCDS54660 Q6ZMV7 MGI:3645902 RGD:1565425 613536 HGNC:33765 "ENST00000356539.9|NM_001004316.3" HGNC:32046 LELP1 late cornified envelope like proline rich 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 2005-11-03 2016-04-06 2023-01-20 149018 ENSG00000203784 OTTHUMG00000013935 uc001fbl.5 NM_001010857 CCDS30869 Q5T871 MGI:1916582 RGD:7528988 611042 HGNC:32046 "ENST00000368747.2|NM_001010857.3" -HGNC:18725 LEMD1 LEM domain containing 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "LEMP-1|CT50" cancer/testis antigen 50 "LEM domain containing|MicroRNA protein coding host genes" "1087|1691" 2002-06-06 2023-01-20 93273 ENSG00000186007 OTTHUMG00000037201 uc001hcj.4 NM_001001552 "CCDS55678|CCDS55677|CCDS55679|CCDS30986" Q68G75 15254688 MGI:1922403 RGD:2322707 610480 HGNC:18725 "ENST00000367153.9|NM_001199050.2" +HGNC:18725 LEMD1 LEM domain containing 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "LEMP-1|CT50" cancer/testis antigen 50 "LEM domain containing|MicroRNA protein coding host genes" "1087|1691" 2002-06-06 2023-01-20 93273 ENSG00000186007 OTTHUMG00000037201 uc001hcj.4 NM_001001552 "CCDS55678|CCDS55679|CCDS55677|CCDS30986" Q68G75 15254688 MGI:1922403 RGD:2322707 610480 HGNC:18725 "ENST00000367153.9|NM_001199050.2" HGNC:44132 LEMD1-AS1 LEMD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 LEMD1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 284576 ENSG00000226235 OTTHUMG00000037200 uc001hch.1 AK090497 NR_038425 LEMD1-AS1 HGNC:44132 HGNC:27631 LEMD1-DT LEMD1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 LEMD1-DT Divergent transcripts 1990 2019-05-15 2019-05-15 2019-05-15 2019-05-15 284577 ENSG00000224717 OTTHUMG00000037202 NR_148934 HGNC:27631 HGNC:21244 LEMD2 LEM domain nuclear envelope protein 2 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "dJ482C21.1|NET25|LEM2" lamina-associated polypeptide-emerin-MAN1 domain containing 2 LEM domain containing 2 LEM domain containing 1087 2003-05-29 2019-10-03 2023-01-20 221496 ENSG00000161904 OTTHUMG00000014535 uc011drm.3 NM_181336 "CCDS4785|CCDS47411" Q8NC56 "16339967|28056360|28242692|31147383" MGI:2385045 RGD:1305341 616312 464297 HGNC:21244 "ENST00000293760.10|NM_181336.4" HGNC:21244 HGNC:28887 LEMD3 LEM domain containing 3 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 MAN1 "inner nuclear membrane protein Man1|MAN antigen 1" LEM domain containing 1087 2004-11-01 2023-01-20 23592 ENSG00000174106 OTTHUMG00000168840 uc001ssl.3 AF263918 NM_001167614 CCDS8972 Q9Y2U8 "10671519|15489854" MGI:3580376 RGD:1596822 607844 123031 HGNC:28887 "ENST00000308330.3|NM_014319.5" HGNC:28887 HGNC:14429 LENEP lens epithelial protein protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP503 2001-02-20 2023-01-20 55891 ENSG00000163352 OTTHUMG00000037417 uc057lke.1 AF268478 NM_018655 CCDS1080 Q9Y5L5 "10655141|11376938" MGI:1930020 RGD:69433 607377 HGNC:14429 "ENST00000392487.2|NM_001394530.1" HGNC:15502 LENG1 leukocyte receptor cluster member 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 leukocyte receptor cluster (LRC) member 1 "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2004-01-28 2016-06-01 2023-01-20 79165 ENSG00000105617 OTTHUMG00000066486 uc002qdm.4 AF211966 NM_024316 CCDS12881 Q96BZ8 10941842 MGI:1917007 RGD:1307933 HGNC:15502 "ENST00000222224.4|NM_024316.3" -HGNC:15500 LENG8 leukocyte receptor cluster member 8 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "KIAA1932|MGC40108|pp13842" leukocyte receptor cluster (LRC) member 8 2004-01-28 2016-06-01 2023-01-20 114823 ENSG00000167615 OTTHUMG00000065548 uc032iea.2 AF211975 NM_052925 "CCDS92686|CCDS12894|CCDS92685" Q96PV6 10941842 MGI:2142195 RGD:1306180 616575 HGNC:15500 "ENST00000326764.10|NM_052925.4" +HGNC:15500 LENG8 leukocyte receptor cluster member 8 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "KIAA1932|MGC40108|pp13842" leukocyte receptor cluster (LRC) member 8 2004-01-28 2016-06-01 2023-01-20 114823 ENSG00000167615 OTTHUMG00000065548 uc032iea.2 AF211975 NM_052925 "CCDS12894|CCDS92685|CCDS92686" Q96PV6 10941842 MGI:2142195 RGD:1306180 616575 HGNC:15500 "ENST00000326764.10|NM_052925.4" HGNC:40705 LENG8-AS1 LENG8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 LENG8 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 104355426 ENSG00000226696 OTTHUMG00000133686 uc061cqw.1 NR_126418 LENG8-AS1 HGNC:40705 HGNC:16306 LENG9 leukocyte receptor cluster member 9 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 leukocyte receptor cluster (LRC) member 9 2004-01-28 2016-06-01 2023-01-20 94059 ENSG00000275183 OTTHUMG00000188273 uc032mqr.2 AF211976 NM_198988 CCDS77358 Q96B70 10941842 MGI:2444509 RGD:6488215 HGNC:16306 "ENST00000611161.2|NM_001301782.2" HGNC:30401 LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component protein-coding gene gene with protein product Approved 15q21.2 15q21.2 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) Paf1/RNA polymerase II complex 1029 2005-07-20 2015-07-02 2023-01-20 123169 ENSG00000166477 OTTHUMG00000131843 uc002abo.5 AY302186 NM_138792 "CCDS66767|CCDS10146" Q8WVC0 "15632063|24038468" MGI:2685031 RGD:1549772 610507 HGNC:30401 "ENST00000299601.10|NM_138792.4" HGNC:6553 LEP leptin protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "OBS|OB" "leptin (murine obesity homolog)|leptin (obesity homolog, mouse)" Neuropeptides 1902 1993-01-26 2008-03-06 2023-01-20 3952 ENSG00000174697 OTTHUMG00000157564 uc003vml.3 NM_000230 CCDS5800 P41159 "1686014|16932309" MGI:104663 RGD:3000 164160 123034 ligandId:5015 HGNC:6553 "ENST00000308868.5|NM_000230.3" HGNC:6553 -HGNC:6554 LEPR leptin receptor protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "OBR|CD295" "CD molecules|Immunoglobulin like domain containing" "471|594" 1996-05-09 2023-01-20 3953 ENSG00000116678 OTTHUMG00000009115 uc001dci.4 U43168 NM_002303 "CCDS631|CCDS30741|CCDS55604|CCDS30740" P48357 "8548812|8812446" MGI:104993 RGD:3001 LRG_283|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_283.xml 601007 123038 objectId:1712 CD295 HGNC:6554 "ENST00000349533.11|NM_002303.6" HGNC:6554 -HGNC:29477 LEPROT leptin receptor overlapping transcript protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "OBRGRP|OB-RGRP|VPS55|FLJ90360" "leptin receptor gene related protein|endospanin-1|endospanin" 2004-11-16 2023-01-20 54741 ENSG00000213625 OTTHUMG00000009065 uc001dcf.4 Y12670 NM_017526 "CCDS630|CCDS72801" O15243 "9207021|21454707" MGI:2687005 RGD:621034 613461 HGNC:29477 "ENST00000371065.9|NM_017526.5" +HGNC:6554 LEPR leptin receptor protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "OBR|CD295" "CD molecules|Immunoglobulin like domain containing" "471|594" 1996-05-09 2023-01-20 3953 ENSG00000116678 OTTHUMG00000009115 uc001dci.4 U43168 NM_002303 "CCDS631|CCDS30741|CCDS30740|CCDS55604" P48357 "8548812|8812446" MGI:104993 RGD:3001 LRG_283|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_283.xml 601007 123038 objectId:1712 CD295 HGNC:6554 "ENST00000349533.11|NM_002303.6" HGNC:6554 +HGNC:29477 LEPROT leptin receptor overlapping transcript protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "OBRGRP|OB-RGRP|VPS55|FLJ90360" "leptin receptor gene related protein|endospanin-1|endospanin" 2004-11-16 2023-01-20 54741 ENSG00000213625 OTTHUMG00000009065 uc001dcf.4 Y12670 NM_017526 "CCDS72801|CCDS630" O15243 "9207021|21454707" MGI:2687005 RGD:621034 613461 HGNC:29477 "ENST00000371065.9|NM_017526.5" HGNC:6555 LEPROTL1 leptin receptor overlapping transcript like 1 protein-coding gene gene with protein product Approved 8p12 08p12 "my047|Vps55" endospanin-2 2000-06-15 2017-06-13 2023-01-20 23484 ENSG00000104660 OTTHUMG00000163820 uc003xhw.5 AF063605 NM_001128208 "CCDS47834|CCDS6075" O95214 11342119 MGI:1915442 RGD:1307168 607338 HGNC:6555 "ENST00000321250.13|NM_015344.3" HGNC:51182 LERFS lncRNA negative regulator of fibroblast-like synoviocyte migration, SYNCRIP interacting non-coding RNA RNA, long non-coding Approved 9q13 09q13 lowly expressed in rheumatoid fibroblast-like synoviocytes Long non-coding RNAs with non-systematic symbols 1992 2019-06-20 2023-03-15 403323 ENSG00000234665 OTTHUMG00000013293 NR_122076 30198906 HGNC:51182 HGNC:6556 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "SLC55A1|Mdm38" Mdm38 homolog (yeast) "EF-hand domain containing|Solute carrier family 55, LETM mitochondrial cation/proton exchangers" "863|2205" 1998-05-13 2016-02-29 2023-03-27 3954 ENSG00000168924 OTTHUMG00000121149 uc003gdv.3 AF061025 NM_012318 CCDS3355 O95202 "10486213|36055214|36321428" MGI:1932557 RGD:1359678 604407 SLC55A1 293326 objectId:3025 HGNC:6556 "ENST00000302787.3|NM_012318.3" HGNC:14649 LETM1P1 leucine zipper and EF-hand containing transmembrane protein 1 pseudogene 1 pseudogene pseudogene Approved 15q22.31 15q22.31 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 1 2008-02-01 2016-02-29 2016-02-29 390597 NG_007651 11549311 HGNC:14649 HGNC:33985 LETM1P2 leucine zipper and EF-hand containing transmembrane protein 1 pseudogene 2 pseudogene pseudogene Approved 19q13.43 19q13.43 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 2 2008-02-01 2016-02-29 2016-02-29 100131934 ENSG00000268660 OTTHUMG00000183382 NG_007659 PGOHUM00000234818 HGNC:33985 HGNC:33986 LETM1P3 leucine zipper and EF-hand containing transmembrane protein 1 pseudogene 3 pseudogene pseudogene Approved 8q22.2 08q22.2 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 3 2008-02-01 2016-02-29 2016-02-29 100151646 NG_007098 HGNC:33986 -HGNC:14648 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "FLJ25409|SLC55A2" "EF-hand domain containing|Solute carrier family 55, LETM mitochondrial cation/proton exchangers" "863|2205" 2004-07-09 2016-02-29 2023-03-14 137994 ENSG00000165046 OTTHUMG00000165059 uc003xlm.4 AK058138 NM_144652 "CCDS56534|CCDS69466|CCDS83282|CCDS75731|CCDS6106" Q2VYF4 11549311 MGI:2444979 RGD:1311220 620380 SLC55A2 objectId:3026 HGNC:14648 "ENST00000379957.9|NM_001286819.2" -HGNC:24241 LETMD1 LETM1 domain containing 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "HCCR1|HCCR|HCCR-2|HCCR-1|HCCR2|SLC55A3" "cervical cancer 1 protooncogene|human cervical cancer oncogene" Solute carrier family 55, LETM mitochondrial cation/proton exchangers 2205 2004-08-27 2023-03-14 25875 ENSG00000050426 OTTHUMG00000169538 uc001rxm.4 AF195651 NM_015416 "CCDS44883|CCDS58231|CCDS8806|CCDS86301|CCDS73469" Q6P1Q0 "12879013|12061725" MGI:1915864 RGD:1596738 619070 SLC55A3 objectId:3027 HGNC:24241 "ENST00000262055.9|NM_015416.5" +HGNC:14648 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "FLJ25409|SLC55A2" "EF-hand domain containing|Solute carrier family 55, LETM mitochondrial cation/proton exchangers" "863|2205" 2004-07-09 2016-02-29 2023-03-14 137994 ENSG00000165046 OTTHUMG00000165059 uc003xlm.4 AK058138 NM_144652 "CCDS69466|CCDS75731|CCDS56534|CCDS83282|CCDS6106" Q2VYF4 11549311 MGI:2444979 RGD:1311220 620380 SLC55A2 objectId:3026 HGNC:14648 "ENST00000379957.9|NM_001286819.2" +HGNC:24241 LETMD1 LETM1 domain containing 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "HCCR1|HCCR|HCCR-2|HCCR-1|HCCR2|SLC55A3" "cervical cancer 1 protooncogene|human cervical cancer oncogene" Solute carrier family 55, LETM mitochondrial cation/proton exchangers 2205 2004-08-27 2023-03-14 25875 ENSG00000050426 OTTHUMG00000169538 uc001rxm.4 AF195651 NM_015416 "CCDS8806|CCDS73469|CCDS86301|CCDS58231|CCDS44883" Q6P1Q0 "12879013|12061725" MGI:1915864 RGD:1596738 619070 SLC55A3 objectId:3027 HGNC:24241 "ENST00000262055.9|NM_015416.5" HGNC:49597 LETR1 lymphatic endothelial transcriptional regulator lncRNA 1 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 LINC01197 long intergenic non-protein coding RNA 1197 Long non-coding RNAs with non-systematic symbols 1992 2014-01-21 2021-02-10 2021-02-10 2022-01-19 400456 ENSG00000248441 OTTHUMG00000171818 BC040875 NR_034095 "33568674|31027497|32196587" LINC01197 HGNC:49597 HGNC:31953 LEUTX leucine twenty homeobox protein-coding gene gene with protein product Approved 19q13.2 19q13.2 PRD class homeoboxes and pseudogenes 521 2008-02-02 2023-03-15 342900 ENSG00000213921 OTTHUMG00000170877 uc010xvg.3 NM_001143832 CCDS92615 A8MZ59 618701 8635 HGNC:31953 "ENST00000638280.2|NM_001382345.1" -HGNC:6560 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 7p22.3 07p22.3 SCDO3 "lunatic fringe (Drosophila) homolog|lunatic fringe homolog (Drosophila)" "Beta 3-glycosyltransferases|MicroRNA protein coding host genes" "426|1691" 1997-11-07 2006-11-13 2023-01-20 3955 ENSG00000106003 OTTHUMG00000152043 uc003smf.4 BC014851 NM_002304 "CCDS34587|CCDS55082|CCDS55081|CCDS34586" Q8NES3 "9878264|9187150" MGI:1095413 RGD:620587 602576 159744 2.4.1.222 HGNC:6560 "ENST00000222725.10|NM_001040167.2" HGNC:6560 +HGNC:6560 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 7p22.3 07p22.3 SCDO3 "lunatic fringe (Drosophila) homolog|lunatic fringe homolog (Drosophila)" "Beta 3-glycosyltransferases|MicroRNA protein coding host genes" "426|1691" 1997-11-07 2006-11-13 2023-01-20 3955 ENSG00000106003 OTTHUMG00000152043 uc003smf.4 BC014851 NM_002304 "CCDS34587|CCDS55082|CCDS34586|CCDS55081" Q8NES3 "9878264|9187150" MGI:1095413 RGD:620587 602576 159744 2.4.1.222 HGNC:6560 "ENST00000222725.10|NM_001040167.2" HGNC:6560 HGNC:6561 LGALS1 galectin 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 GBP lectin, galactoside-binding, soluble, 1 "Receptor ligands|Galectins" "542|629" 1991-09-13 2016-05-13 2023-01-20 3956 ENSG00000100097 OTTHUMG00000150661 uc003atn.4 NM_002305 CCDS13954 P09382 "1988031|12271131" MGI:96777 RGD:69355 150570 ligandId:6603 HGNC:6561 "ENST00000215909.10|NM_002305.4" HGNC:6562 LGALS2 galectin 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 HL14 lectin, galactoside-binding, soluble, 2 Galectins 629 1992-07-20 2016-05-13 2023-01-20 3957 ENSG00000100079 OTTHUMG00000150590 uc003ata.4 NM_006498 CCDS13950 P05162 "1988031|15356130" MGI:895068 RGD:621269 150571 HGNC:6562 "ENST00000215886.6|NM_006498.3" HGNC:6563 LGALS3 galectin 3 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "MAC-2|GALIG" advanced glycation end-product receptor 3 LGALS2 lectin, galactoside-binding, soluble, 3 "Receptor ligands|Galectins" "542|629" 1991-09-13 2016-05-13 2023-01-20 3958 ENSG00000131981 OTTHUMG00000171030 uc001xbr.4 M64303 NM_002306 CCDS41956 P17931 "2009535|8063692" MGI:96778 RGD:69356 153619 470596 ligandId:6619 HGNC:6563 "ENST00000254301.14|NM_002306.4" @@ -14828,26 +14829,26 @@ HGNC:6568 LGALS7 galectin 7 protein-coding gene gene with protein product Approv HGNC:34447 LGALS7B galectin 7B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 GAL7 lectin, galactoside-binding, soluble, 7B Galectins 629 2008-07-25 2016-05-13 2023-01-20 653499 ENSG00000178934 OTTHUMG00000182607 uc002ojf.5 NM_001042507 CCDS42565 P47929 MGI:1316742 617139 HGNC:34447 "ENST00000314980.5|NM_001042507.4" HGNC:6569 LGALS8 galectin 8 protein-coding gene gene with protein product Approved 1q43 01q43 PCTA-1 lectin, galactoside-binding, soluble, 8 Galectins 629 1995-05-25 2016-05-13 2023-01-20 3964 ENSG00000116977 OTTHUMG00000039953 uc001hxy.3 X91790 NM_006499 "CCDS1611|CCDS1612" O00214 "7852431|8692978" MGI:1928481 RGD:621272 606099 HGNC:6569 "ENST00000366584.9|NM_201544.4" HGNC:40340 LGALS8-AS1 LGALS8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q43 01q43 LGALS8 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-04 2012-08-15 2014-11-19 100287902 ENSG00000223776 OTTHUMG00000039952 uc001hxx.4 NR_034040 LGALS8-AS1 HGNC:40340 -HGNC:6570 LGALS9 galectin 9 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 LGALS9A lectin, galactoside-binding, soluble, 9 "Receptor ligands|Galectins" "542|629" 1997-06-25 2016-05-13 2023-01-20 3965 ENSG00000168961 OTTHUMG00000179831 uc002gzp.4 AB006782 NM_009587 "CCDS11222|CCDS32592|CCDS82093" O00182 9045665 MGI:109496 RGD:3005 601879 ligandId:9594 HGNC:6570 "ENST00000395473.7|NM_009587.3" +HGNC:6570 LGALS9 galectin 9 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 LGALS9A lectin, galactoside-binding, soluble, 9 "Receptor ligands|Galectins" "542|629" 1997-06-25 2016-05-13 2023-01-20 3965 ENSG00000168961 OTTHUMG00000179831 uc002gzp.4 AB006782 NM_009587 "CCDS82093|CCDS11222|CCDS32592" O00182 9045665 MGI:109496 RGD:3005 601879 ligandId:9594 HGNC:6570 "ENST00000395473.7|NM_009587.3" HGNC:24842 LGALS9B galectin 9B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 lectin, galactoside-binding, soluble, 9B Galectins 629 2008-07-25 2016-05-13 2023-01-20 284194 ENSG00000170298 OTTHUMG00000130730 uc002gwz.1 NM_001042685 "CCDS42283|CCDS92280" Q3B8N2 11997339 MGI:109496 HGNC:24842 "ENST00000423676.8|NM_001367292.2" HGNC:33874 LGALS9C galectin 9C protein-coding gene gene with protein product Approved 17p11.2 17p11.2 lectin, galactoside-binding, soluble, 9C Galectins 629 2008-07-25 2016-05-13 2023-01-20 654346 ENSG00000171916 OTTHUMG00000059251 uc002gtw.4 NM_001040078 CCDS32587 Q6DKI2 MGI:109496 HGNC:33874 "ENST00000328114.11|NM_001040078.3" HGNC:49896 LGALS9DP galectin 9D, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 lectin, galactoside-binding, soluble, 9D, pseudogene 2014-03-19 2016-05-13 2016-05-13 645754 ENSG00000266786 OTTHUMG00000179205 NG_005629 PGOHUM00000237334 HGNC:49896 -HGNC:15788 LGALS12 galectin 12 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 GRIP1 lectin, galactoside-binding, soluble, 12 Galectins 629 2001-11-14 2016-05-13 2023-01-20 85329 ENSG00000133317 OTTHUMG00000167807 uc001nxa.3 AF222695 NM_033101 "CCDS8045|CCDS44633|CCDS53648|CCDS44634|CCDS44635" Q96DT0 "11283015|11435439" MGI:1929094 RGD:1306914 606096 HGNC:15788 "ENST00000394618.9|NM_033101.4" +HGNC:15788 LGALS12 galectin 12 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 GRIP1 lectin, galactoside-binding, soluble, 12 Galectins 629 2001-11-14 2016-05-13 2023-01-20 85329 ENSG00000133317 OTTHUMG00000167807 uc001nxa.3 AF222695 NM_033101 "CCDS44633|CCDS44634|CCDS53648|CCDS44635|CCDS8045" Q96DT0 "11283015|11435439" MGI:1929094 RGD:1306914 606096 HGNC:15788 "ENST00000394618.9|NM_033101.4" HGNC:15449 LGALS13 galectin 13 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PP13|PLAC8" lectin, galactoside-binding, soluble, 13 Galectins 629 2004-03-11 2016-05-13 2023-01-20 29124 ENSG00000105198 OTTHUMG00000183073 uc002omb.4 AF117383 NM_013268 CCDS33024 Q9UHV8 "6856484|10527825" 608717 HGNC:15449 "ENST00000221797.5|NM_013268.3" HGNC:30054 LGALS14 galectin 14 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PPL13|CLC2" lectin, galactoside-binding, soluble, 14 Galectins 629 2004-05-17 2016-05-13 2023-01-20 56891 ENSG00000006659 OTTHUMG00000183143 uc002omf.4 AF267852 NM_020129 "CCDS12542|CCDS46073" Q8TCE9 11997112 607260 HGNC:30054 "ENST00000392052.8|NM_020129.3" HGNC:40039 LGALS16 galectin 16 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 lectin, galactoside-binding, soluble, 16 Galectins 629 2011-08-04 2016-05-13 2023-01-20 148003 ENSG00000249861 OTTHUMG00000183083 uc021uun.2 NM_001190441 CCDS54267 A8MUM7 19497882 RGD:3004 HGNC:40039 "ENST00000392051.4|NM_001190441.3" HGNC:25012 LGALSL galectin like protein-coding gene gene with protein product Approved 2p14 02p14 "HSPC159|GRP" galectin-related protein lectin, galactoside-binding-like 2011-08-15 2016-05-13 2023-01-20 29094 ENSG00000119862 OTTHUMG00000129541 uc002scy.5 AF161508 NM_014181 CCDS1877 Q3ZCW2 "11042152|16682780" MGI:1916114 RGD:1307414 617902 HGNC:25012 "ENST00000238875.10|NM_014181.3" HGNC:53951 LGALSL-DT LGALSL divergent transcript non-coding RNA RNA, long non-coding Approved 2p14 02p14 LOC105374771 Divergent transcripts 1990 2018-06-20 2018-06-20 105374771 ENSG00000223935 OTTHUMG00000152670 XR_001739491 29568943 HGNC:53951 -HGNC:6572 LGI1 leucine rich glioma inactivated 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "IB1099|ETL1|EPITEMPIN" Epitempin-1 EPT epilepsy, partial LGI family 1841 1998-09-25 2016-06-06 2023-01-20 9211 ENSG00000108231 OTTHUMG00000018777 uc001kjc.5 AF055636 NM_005097 "CCDS81490|CCDS76325|CCDS7431" O95970 "9879993|11978770|15079011" MGI:1861691 RGD:628742 604619 123042 HGNC:6572 "ENST00000371418.9|NM_005097.4" HGNC:6572 +HGNC:6572 LGI1 leucine rich glioma inactivated 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "IB1099|ETL1|EPITEMPIN" Epitempin-1 EPT epilepsy, partial LGI family 1841 1998-09-25 2016-06-06 2023-01-20 9211 ENSG00000108231 OTTHUMG00000018777 uc001kjc.5 AF055636 NM_005097 "CCDS81490|CCDS7431|CCDS76325" O95970 "9879993|11978770|15079011" MGI:1861691 RGD:628742 604619 123042 HGNC:6572 "ENST00000371418.9|NM_005097.4" HGNC:6572 HGNC:18710 LGI2 leucine rich repeat LGI family member 2 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "KIAA1916|FLJ10675" leucine-rich repeat LGI family, member 2 LGI family 1841 2002-05-30 2016-06-06 2023-01-20 55203 ENSG00000153012 OTTHUMG00000097749 uc003grf.3 AJ487516 NM_018176 CCDS3431 Q8N0V4 "12023020|16014869" MGI:2180196 RGD:1310391 608301 HGNC:18710 "ENST00000382114.9|NM_018176.4" HGNC:18711 LGI3 leucine rich repeat LGI family member 3 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 leucine-rich repeat LGI family, member 3 LGI family 1841 2002-05-30 2016-06-06 2023-01-20 203190 ENSG00000168481 OTTHUMG00000131599 uc003xav.4 AJ487518 NM_139278 CCDS6025 Q8N145 "12023020|18628660" MGI:2182619 RGD:1311079 608302 HGNC:18711 "ENST00000306317.7|NM_139278.4" HGNC:18712 LGI4 leucine rich repeat LGI family member 4 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 leucine-rich repeat LGI family, member 4 LGI family 1841 2002-05-30 2016-06-06 2023-01-20 163175 ENSG00000153902 OTTHUMG00000044558 uc002nxx.3 AJ487519 NM_139284 CCDS12444 Q8N135 12023020 MGI:2180197 RGD:735035 608303 HGNC:18712 "ENST00000310123.8|NM_139284.3" HGNC:18712 -HGNC:9472 LGMN legumain protein-coding gene gene with protein product Approved 14q32.12 14q32.12 LGMN1 PRSC1 protease, cysteine, 1 (legumain) 1995-12-18 2002-01-18 2023-01-20 5641 ENSG00000100600 OTTHUMG00000171199 uc001yaw.4 D55696 NM_005606 "CCDS86424|CCDS86423|CCDS9904" Q99538 "8893817|9065484" MGI:1330838 RGD:619832 602620 C13.004 objectId:2380 HGNC:9472 "ENST00000334869.9|NM_005606.7" +HGNC:9472 LGMN legumain protein-coding gene gene with protein product Approved 14q32.12 14q32.12 LGMN1 PRSC1 protease, cysteine, 1 (legumain) 1995-12-18 2002-01-18 2023-01-20 5641 ENSG00000100600 OTTHUMG00000171199 uc001yaw.4 D55696 NM_005606 "CCDS9904|CCDS86424|CCDS86423" Q99538 "8893817|9065484" MGI:1330838 RGD:619832 602620 C13.004 objectId:2380 HGNC:9472 "ENST00000334869.9|NM_005606.7" HGNC:23079 LGMNP1 legumain pseudogene 1 pseudogene pseudogene Approved 13q21.31 13q21.31 LGMN2P legumain 2 pseudogene 2003-09-03 2011-04-08 2011-04-08 2016-10-05 122199 ENSG00000214269 OTTHUMG00000017029 NG_001534 PGOHUM00000248419 C13.P01 HGNC:23079 HGNC:13299 LGR4 leucine rich repeat containing G protein-coupled receptor 4 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 GPR48 G protein-coupled receptor 48 G protein-coupled receptors, Class A orphans 262 2000-09-19 2004-11-12 2016-06-06 2023-01-20 55366 ENSG00000205213 OTTHUMG00000133508 uc001mrj.5 AF257182 NM_018490 "CCDS31449|CCDS86187" Q9BXB1 10894923 MGI:1891468 RGD:628615 606666 objectId:147 HGNC:13299 "ENST00000379214.9|NM_018490.5" HGNC:40629 LGR4-AS1 LGR4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 Antisense RNAs 1987 2019-08-16 2019-08-16 105376671 ENSG00000254862 OTTHUMG00000166124 NR_131169 HGNC:40629 -HGNC:4504 LGR5 leucine rich repeat containing G protein-coupled receptor 5 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "HG38|FEX" "GPR67|GPR49" G protein-coupled receptor 49 G protein-coupled receptors, Class A orphans 262 1999-10-22 2004-11-12 2016-06-06 2023-01-20 8549 ENSG00000139292 OTTHUMG00000169543 uc001swl.5 AF062006 NM_003667 "CCDS61195|CCDS61194|CCDS9000" O75473 9642114 MGI:1341817 RGD:1307733 606667 objectId:148 HGNC:4504 "ENST00000266674.10|NM_003667.4" -HGNC:19719 LGR6 leucine rich repeat containing G protein-coupled receptor 6 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ14471 G protein-coupled receptors, Class A orphans 262 2003-12-04 2016-06-06 2023-01-20 59352 ENSG00000133067 OTTHUMG00000041383 uc001gxu.4 AF190501 NM_021636 "CCDS1424|CCDS30972|CCDS30971" Q9HBX8 10935549 MGI:2441805 RGD:1560339 606653 objectId:149 HGNC:19719 "ENST00000367278.8|NM_001017403.2" +HGNC:4504 LGR5 leucine rich repeat containing G protein-coupled receptor 5 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "HG38|FEX" "GPR67|GPR49" G protein-coupled receptor 49 G protein-coupled receptors, Class A orphans 262 1999-10-22 2004-11-12 2016-06-06 2023-01-20 8549 ENSG00000139292 OTTHUMG00000169543 uc001swl.5 AF062006 NM_003667 "CCDS61194|CCDS61195|CCDS9000" O75473 9642114 MGI:1341817 RGD:1307733 606667 objectId:148 HGNC:4504 "ENST00000266674.10|NM_003667.4" +HGNC:19719 LGR6 leucine rich repeat containing G protein-coupled receptor 6 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ14471 G protein-coupled receptors, Class A orphans 262 2003-12-04 2016-06-06 2023-01-20 59352 ENSG00000133067 OTTHUMG00000041383 uc001gxu.4 AF190501 NM_021636 "CCDS30971|CCDS30972|CCDS1424" Q9HBX8 10935549 MGI:2441805 RGD:1560339 606653 objectId:149 HGNC:19719 "ENST00000367278.8|NM_001017403.2" HGNC:21016 LGSN lengsin, lens protein with glutamine synthetase domain protein-coding gene gene with protein product Approved 6q12 06q12 LGS GLULD1 glutamate-ammonia ligase (glutamine synthetase) domain containing 1 2003-05-02 2008-09-19 2008-09-19 2023-01-20 51557 ENSG00000146166 OTTHUMG00000014946 uc003peh.4 AF242388 NM_016571 "CCDS4964|CCDS55027" Q5TDP6 12107412 MGI:2672844 RGD:727925 611470 HGNC:21016 "ENST00000370657.9|NM_016571.3" HGNC:39494 LGTN ligatin other unknown Approved reserved reserved 2011-01-19 2013-03-26 100529141 3805022 151625 HGNC:6584 LHB luteinizing hormone subunit beta protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "LSH-B|CGB4|hLHB" "lutropin, beta chain|interstitial cell stimulating hormone, beta chain" luteinizing hormone beta polypeptide "Receptor ligands|Glycoprotein hormone subunits" "542|1896" 1986-01-01 2019-07-22 2023-01-20 3972 ENSG00000104826 OTTHUMG00000183334 uc002plt.4 NM_000894 CCDS12748 P01229 1191677 MGI:96782 RGD:3006 LRG_1361|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1361.xml 152780 123046 ligandId:3732 HGNC:6584 "ENST00000649238.3|NM_000894.3" HGNC:6584 @@ -14860,66 +14861,66 @@ HGNC:44106 LHFPL3-AS2 LHFPL3 antisense RNA 2 non-coding RNA RNA, long non-coding HGNC:29568 LHFPL4 LHFPL tetraspan subfamily member 4 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 GARLH4 GABAA receptor regulatory Lhfpl4 lipoma HMGIC fusion partner-like 4 LHFPL tetraspan proteins 1489 2006-06-13 2017-06-21 2023-01-20 375323 ENSG00000156959 OTTHUMG00000155066 uc003bry.3 AY278320 NM_198560 CCDS33691 Q7Z7J7 "15905332|28279354" MGI:3057108 RGD:727967 610240 HGNC:29568 "ENST00000287585.8|NM_198560.3" HGNC:21253 LHFPL5 LHFPL tetraspan subfamily member 5 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "MGC33835|dJ510O8.8|Tmhs" tetraspan membrane protein of hair cell stereocilia DFNB67 "deafness, autosomal recessive 67|lipoma HMGIC fusion partner-like 5" LHFPL tetraspan proteins 1489 2003-11-26 2017-06-21 2023-01-20 222662 ENSG00000197753 OTTHUMG00000014584 uc003olg.2 BC028630 NM_182548 CCDS4812 Q8TAF8 16459341 MGI:1915382 RGD:1359370 LRG_1352|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1352.xml 609427 159414 HGNC:21253 "ENST00000360215.3|NM_182548.4" HGNC:21253 HGNC:6586 LHFPL6 LHFPL tetraspan subfamily member 6 protein-coding gene gene with protein product Approved 13q13.3-q14.11 13q13.3-q14.11 MGC22429 LHFP lipoma HMGIC fusion partner LHFPL tetraspan proteins 1489 1999-06-02 2017-06-21 2017-06-21 2023-01-20 10186 ENSG00000183722 OTTHUMG00000016767 uc001uxf.4 AF098807 NM_005780 CCDS9369 Q9Y693 10329012 MGI:1920048 RGD:1560177 606710 HGNC:6586 "ENST00000379589.4|NM_005780.3" -HGNC:33725 LHFPL7 LHFPL tetraspan subfamily member 7 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 bA9F11.1 TMEM211 transmembrane protein 211 LHFPL tetraspan proteins 1489 2008-06-10 2021-12-07 2021-12-07 2023-01-20 255349 ENSG00000206069 OTTHUMG00000150790 uc003abk.2 NM_001001663 "CCDS93134|CCDS33624" Q6ICI0 MGI:2685700 RGD:1584759 HGNC:33725 "ENST00000640159.2|NM_001388199.1" +HGNC:33725 LHFPL7 LHFPL tetraspan subfamily member 7 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 bA9F11.1 TMEM211 transmembrane protein 211 LHFPL tetraspan proteins 1489 2008-06-10 2021-12-07 2021-12-07 2023-01-20 255349 ENSG00000206069 OTTHUMG00000150790 uc003abk.2 NM_001001663 "CCDS33624|CCDS93134" Q6ICI0 MGI:2685700 RGD:1584759 HGNC:33725 "ENST00000640159.2|NM_001388199.1" HGNC:30042 LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase protein-coding gene gene with protein product Approved 10q26.13 10q26.13 HDHD2B "HAD Asp-based non-protein phosphatases|Haloacid dehalogenase like hydrolase domain containing" "1045|1377" 2009-11-06 2023-01-20 64077 ENSG00000107902 OTTHUMG00000019214 uc001lhs.3 AB049629 NM_022126 "CCDS53587|CCDS7640|CCDS81519" Q9H008 "12801912|16430861" MGI:1923679 RGD:1359187 617231 3.6.1.1 HGNC:30042 "ENST00000368842.10|NM_022126.4" HGNC:6593 LHX1 LIM homeobox 1 protein-coding gene gene with protein product Approved 17q12 17q12 "LIM-1|LIM1" LIM class homeoboxes 522 1996-10-02 2023-01-20 3975 ENSG00000273706 OTTHUMG00000188456 uc032feb.2 U14755 NM_005568 CCDS11316 P48742 9212161 MGI:99783 RGD:71074 601999 8453 317394 HGNC:6593 "ENST00000614239.1|NM_005568.5" HGNC:53778 LHX1-DT LHX1 divergent transcript non-coding RNA RNA, long non-coding Approved 17q12 17q12 lnc-ACACA-1 Divergent transcripts 1990 2017-11-17 2023-01-18 102723471 ENSG00000277268 OTTHUMG00000188447 NR_135671 HGNC:53778 HGNC:6594 LHX2 LIM homeobox 2 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "LH-2|hLhx2" LIM class homeoboxes 522 1999-04-15 2023-01-20 9355 ENSG00000106689 OTTHUMG00000020647 uc004boe.2 U11701 NM_004789 CCDS6853 P50458 "8649822|10051612" MGI:96785 RGD:71076 603759 8454 470598 HGNC:6594 "ENST00000373615.9|NM_004789.4" HGNC:56163 LHX2-AS1 LHX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 Antisense RNAs 1987 2022-01-13 2022-01-13 100505588 ENSG00000236668 NR_135129 -HGNC:6595 LHX3 LIM homeobox 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 LIM class homeoboxes 522 2000-03-22 2023-01-20 8022 ENSG00000107187 OTTHUMG00000020924 uc004cgz.3 AF096169 NM_001363746 "CCDS87713|CCDS6994|CCDS6995" Q9UBR4 "10598593|10717474" MGI:102673 RGD:71078 600577 8455 123053 HGNC:6595 "ENST00000371748.10|NM_178138.6" HGNC:6595 +HGNC:6595 LHX3 LIM homeobox 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 LIM class homeoboxes 522 2000-03-22 2023-01-20 8022 ENSG00000107187 OTTHUMG00000020924 uc004cgz.3 AF096169 NM_001363746 "CCDS6995|CCDS87713|CCDS6994" Q9UBR4 "10598593|10717474" MGI:102673 RGD:71078 600577 8455 123053 HGNC:6595 "ENST00000371748.10|NM_178138.6" HGNC:6595 HGNC:21734 LHX4 LIM homeobox 4 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 Gsh4 LIM class homeoboxes 522 2003-07-21 2023-01-20 89884 ENSG00000121454 OTTHUMG00000035115 uc001goe.3 AB037683 NM_033343 CCDS1338 Q969G2 "11844481|11567216" MGI:101776 RGD:1308044 602146 8456 138383 HGNC:21734 "ENST00000263726.4|NM_033343.4" HGNC:21734 HGNC:40982 LHX4-AS1 LHX4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 Antisense RNAs 1987 2014-05-21 2016-11-11 100527964 NR_037642 HGNC:40982 HGNC:14216 LHX5 LIM homeobox 5 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 LIM class homeoboxes 522 2000-12-11 2023-01-20 64211 ENSG00000089116 OTTHUMG00000169552 uc001tvj.2 AF291181 NM_022363 CCDS9171 Q9H2C1 MGI:107792 RGD:71079 605992 8457 HGNC:14216 "ENST00000261731.4|NM_022363.3" HGNC:49570 LHX5-AS1 LHX5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.13 12q24.13 locus4010 locus 4010 LHX5 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-01-11 2018-03-23 2022-02-24 104355219 ENSG00000257935 OTTHUMG00000169553 DB553737 NR_126425 23382218 LHX5-AS1 HGNC:49570 -HGNC:21735 LHX6 LIM homeobox 6 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "LHX6.1|hLHX6" LIM class homeoboxes 522 2003-07-21 2023-01-20 26468 ENSG00000106852 OTTHUMG00000020601 uc004blx.5 AB031041 NM_014368 "CCDS59144|CCDS87683|CCDS56584|CCDS6837|CCDS6838|CCDS56583" Q9UPM6 10393337 MGI:1306803 RGD:1306174 608215 8535 HGNC:21735 "ENST00000394319.9|NM_014368.5" HGNC:21735 -HGNC:28838 LHX8 LIM homeobox 8 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 Lhx7 LIM class homeoboxes 522 2005-06-02 2023-01-20 431707 ENSG00000162624 OTTHUMG00000009692 uc001dgo.3 AB050476 NM_001001933 "CCDS30756|CCDS58008" Q68G74 9598319 MGI:1096343 RGD:1308749 604425 8458 470600 HGNC:28838 "ENST00000356261.4|NM_001256114.2" -HGNC:14222 LHX9 LIM homeobox 9 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 LIM class homeoboxes 522 2000-12-11 2023-01-20 56956 ENSG00000143355 OTTHUMG00000035656 uc001gui.2 AJ277915 NM_020204 "CCDS30962|CCDS1393|CCDS91139" Q9NQ69 "9880598|11397841" MGI:1316721 RGD:727956 606066 8459 470602 HGNC:14222 "ENST00000367387.6|NM_020204.3" -HGNC:16429 LIAS lipoic acid synthetase protein-coding gene gene with protein product Approved 4p14 04p14 LAS Lipoyl synthase, mitochondrial Radical S-adenosylmethionine domain containing 2036 2001-11-30 2023-01-20 11019 ENSG00000121897 OTTHUMG00000099369 uc003guf.5 AJ224162 NM_194451 "CCDS87218|CCDS87217|CCDS63950|CCDS87220|CCDS3453|CCDS3454" O43766 11124703 MGI:1934604 RGD:1307270 607031 404076 HGNC:16429 "ENST00000640888.2|NM_006859.4" HGNC:16429 +HGNC:21735 LHX6 LIM homeobox 6 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "LHX6.1|hLHX6" LIM class homeoboxes 522 2003-07-21 2023-01-20 26468 ENSG00000106852 OTTHUMG00000020601 uc004blx.5 AB031041 NM_014368 "CCDS6837|CCDS87683|CCDS56583|CCDS59144|CCDS6838|CCDS56584" Q9UPM6 10393337 MGI:1306803 RGD:1306174 608215 8535 HGNC:21735 "ENST00000394319.9|NM_014368.5" HGNC:21735 +HGNC:28838 LHX8 LIM homeobox 8 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 Lhx7 LIM class homeoboxes 522 2005-06-02 2023-01-20 431707 ENSG00000162624 OTTHUMG00000009692 uc001dgo.3 AB050476 NM_001001933 "CCDS58008|CCDS30756" Q68G74 9598319 MGI:1096343 RGD:1308749 604425 8458 470600 HGNC:28838 "ENST00000356261.4|NM_001256114.2" +HGNC:14222 LHX9 LIM homeobox 9 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 LIM class homeoboxes 522 2000-12-11 2023-01-20 56956 ENSG00000143355 OTTHUMG00000035656 uc001gui.2 AJ277915 NM_020204 "CCDS91139|CCDS30962|CCDS1393" Q9NQ69 "9880598|11397841" MGI:1316721 RGD:727956 606066 8459 470602 HGNC:14222 "ENST00000367387.6|NM_020204.3" +HGNC:16429 LIAS lipoic acid synthetase protein-coding gene gene with protein product Approved 4p14 04p14 LAS Lipoyl synthase, mitochondrial Radical S-adenosylmethionine domain containing 2036 2001-11-30 2023-01-20 11019 ENSG00000121897 OTTHUMG00000099369 uc003guf.5 AJ224162 NM_194451 "CCDS87220|CCDS63950|CCDS3454|CCDS87217|CCDS87218|CCDS3453" O43766 11124703 MGI:1934604 RGD:1307270 607031 404076 HGNC:16429 "ENST00000640888.2|NM_006859.4" HGNC:16429 HGNC:33800 LIAT1 ligand of ATE1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 LOC400566 C17orf97 chromosome 17 open reading frame 97 2008-08-06 2023-02-27 2023-02-27 2023-02-27 400566 ENSG00000187624 OTTHUMG00000132479 uc021tna.1 "AK128660|BC057385" NM_001013672 CCDS32519 Q6ZQX7 "25369936|33443146" MGI:1921480 RGD:1565611 HGNC:33800 "ENST00000360127.7|NM_001013672.5" HGNC:6596 LIF LIF interleukin 6 family cytokine protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "CDF|DIA|HILDA" "differentiation inhibitory activity|differentiation-inducing factor|hepatocyte-stimulating factor III|cholinergic differentiation factor|human interleukin in DA cells" "leukemia inhibitory factor|LIF, interleukin 6 family cytokine" "Receptor ligands|Interleukin 6 type cytokine family" "542|1264" 1989-06-11 2019-01-25 2023-01-20 3976 ENSG00000128342 OTTHUMG00000150910 uc003agz.3 NM_002309 "CCDS13872|CCDS58799" P15018 "1714745|8058719" MGI:96787 RGD:620865 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 159540 ligandId:5016 HGNC:6596 "ENST00000249075.4|NM_002309.5" HGNC:53473 LIF-AS1 LIF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 "Lnc-LIF-AS|RP1-102K2.6" Antisense RNAs 1987 2017-04-28 2023-01-26 110806283 ENSG00000232530 OTTHUMG00000150909 NR_149070 28391028 HGNC:53473 HGNC:28298 LIF-AS2 LIF antisense RNA 2 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 TP53LC08 Antisense RNAs 1987 2020-10-07 2022-07-22 91370 ENSG00000268812 NR_148946 35609991 HGNC:6597 LIFR LIF receptor subunit alpha protein-coding gene gene with protein product Approved 5p13.1 05p13.1 CD118 "leukemia inhibitory factor receptor|leukemia inhibitory factor receptor alpha|LIF receptor alpha" "CD molecules|Fibronectin type III domain containing|MicroRNA protein coding host genes" "471|555|1691" 1992-08-24 2019-04-10 2023-01-20 3977 ENSG00000113594 OTTHUMG00000131138 uc003jli.3 X61615 NM_002310 CCDS3927 P42702 1915266 MGI:96788 RGD:621431 LIFR 151443 123055 objectId:1713 CD118 HGNC:6597 "ENST00000453190.7|NM_001127671.2" HGNC:6597 HGNC:43600 LIFR-AS1 LIFR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 LIFR antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-23 2012-08-15 2018-06-08 100506495 ENSG00000244968 OTTHUMG00000162109 uc003jlj.5 BC038371 NR_103553 "26725846|29807108" LIFR-AS1 HGNC:43600 -HGNC:6598 LIG1 DNA ligase 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "LIGI|hLig1" DNA ligase I ligase I, DNA, ATP-dependent "DNA ligases|Nucleotide excision repair" "1247|1269" 1991-05-09 2016-04-27 2023-01-20 3978 ENSG00000105486 OTTHUMG00000183187 uc002pia.2 NM_000234 "CCDS74409|CCDS92657|CCDS92658|CCDS74410|CCDS12711" P18858 "1733856|11032816" MGI:101789 RGD:621424 "LIG1base: Mutation registry for DNA ligase I deficiency|http://structure.bmc.lu.se/idbase/LIG1base/|LRG_78|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_78.xml" 126391 470604 6.5.1.1 HGNC:6598 "ENST00000263274.12|NM_000234.3" -HGNC:6600 LIG3 DNA ligase 3 protein-coding gene gene with protein product Approved 17q12 17q12 LIG3alpha DNA ligase III LIG2 "ligase II, DNA, ATP-dependent|ligase III, DNA, ATP-dependent" "Zinc fingers PARP-type|DNA ligases" "94|1247" 1991-05-09 2016-04-27 2023-01-20 3980 ENSG00000005156 OTTHUMG00000128519 uc002hik.3 NM_013975 "CCDS11285|CCDS11284" P49916 7760816 MGI:109152 RGD:1309875 600940 HGNC:6600 "ENST00000378526.9|NM_013975.4" +HGNC:6598 LIG1 DNA ligase 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "LIGI|hLig1" DNA ligase I ligase I, DNA, ATP-dependent "DNA ligases|Nucleotide excision repair" "1247|1269" 1991-05-09 2016-04-27 2023-01-20 3978 ENSG00000105486 OTTHUMG00000183187 uc002pia.2 NM_000234 "CCDS92658|CCDS74410|CCDS12711|CCDS92657|CCDS74409" P18858 "1733856|11032816" MGI:101789 RGD:621424 "LIG1base: Mutation registry for DNA ligase I deficiency|http://structure.bmc.lu.se/idbase/LIG1base/|LRG_78|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_78.xml" 126391 470604 6.5.1.1 HGNC:6598 "ENST00000263274.12|NM_000234.3" +HGNC:6600 LIG3 DNA ligase 3 protein-coding gene gene with protein product Approved 17q12 17q12 LIG3alpha DNA ligase III LIG2 "ligase II, DNA, ATP-dependent|ligase III, DNA, ATP-dependent" "Zinc fingers PARP-type|DNA ligases" "94|1247" 1991-05-09 2016-04-27 2023-01-20 3980 ENSG00000005156 OTTHUMG00000128519 uc002hik.3 NM_013975 "CCDS11284|CCDS11285" P49916 7760816 MGI:109152 RGD:1309875 600940 HGNC:6600 "ENST00000378526.9|NM_013975.4" HGNC:6601 LIG4 DNA ligase 4 protein-coding gene gene with protein product Approved 13q33.3 13q33.3 "polydeoxyribonucleotide synthase [ATP] 4|polynucleotide ligase|sealase|DNA repair enzyme|DNA joinase|DNA ligase IV" ligase IV, DNA, ATP-dependent DNA ligases 1247 1995-08-10 2016-04-27 2023-01-20 3981 ENSG00000174405 OTTHUMG00000017328 uc001vqp.4 X83441 NM_002312 "CCDS9508|CCDS81779" P49917 7760816 MGI:1335098 RGD:1304639 "LIG4base: Mutation registry for LIG4 syndrome|http://structure.bmc.lu.se/idbase/LIG4base/|LRG_79|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_79.xml" 601837 123058 6.5.1.1 HGNC:6601 "ENST00000442234.6|NM_206937.2" HGNC:6601 -HGNC:6602 LILRA1 leukocyte immunoglobulin like receptor A1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-6|CD85i|LIR6" leucocyte Ig-like receptor A1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2000-01-11 2016-01-14 2023-01-20 11024 ENSG00000104974 OTTHUMG00000065701 uc002qgh.4 AF025530 NM_006863 "CCDS62802|CCDS12901" O75019 9548455 "MGI:1195969|MGI:1195970|MGI:3705216|MGI:3709645" 604810 CD85i HGNC:6602 "ENST00000251372.8|NM_006863.4" +HGNC:6602 LILRA1 leukocyte immunoglobulin like receptor A1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-6|CD85i|LIR6" leucocyte Ig-like receptor A1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2000-01-11 2016-01-14 2023-01-20 11024 ENSG00000104974 OTTHUMG00000065701 uc002qgh.4 AF025530 NM_006863 "CCDS12901|CCDS62802" O75019 9548455 "MGI:1195969|MGI:1195970|MGI:3705216|MGI:3709645" 604810 CD85i HGNC:6602 "ENST00000251372.8|NM_006863.4" HGNC:6603 LILRA2 leukocyte immunoglobulin like receptor A2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-7|ILT1|CD85h|LIR7" leucocyte Ig-like receptor A2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2000-01-11 2016-01-14 2023-01-20 11027 ENSG00000239998 OTTHUMG00000065703 uc002qgf.5 U82275 NM_001130917 "CCDS46179|CCDS12900|CCDS74453" Q8N149 "9079806|9548455" "MGI:1195969|MGI:1195970|MGI:3705216|MGI:3709645" 604812 I43.951 CD85h HGNC:6603 "ENST00000391738.8|NM_001130917.3" HGNC:56565 LILRA2P1 LILRA2 pseudogene 1 pseudogene pseudogene Approved 3q25.32 03q25.32 2022-11-02 2022-11-02 100422604 ENSG00000277143 NG_025653 PGOHUM00000299247 HGNC:6604 LILRA3 leukocyte immunoglobulin like receptor A3 protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus "LIR-4|HM43|ILT6|HM31|LIR4|CD85e" leucocyte Ig-like receptor A3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2000-01-11 2016-01-14 2023-03-15 11026 uc061edb.1 U91926 NM_001172654 Q8N6C8 "9278324|9548455" "MGI:894311|MGI:1195969|MGI:1195970|MGI:3705216|MGI:3709645" 604818 CD85e HGNC:15503 LILRA4 leukocyte immunoglobulin like receptor A4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ILT7|CD85g" leucocyte Ig-like receptor A4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2005-05-17 2016-01-14 2023-01-20 23547 ENSG00000239961 OTTHUMG00000065355 uc002qfj.4 AF041261 NM_012276 CCDS12890 P59901 10941842 "MGI:1195969|MGI:1195970|MGI:3705216|MGI:3709645" 607517 objectId:2896 CD85g HGNC:15503 "ENST00000291759.5|NM_012276.5" HGNC:16309 LILRA5 leukocyte immunoglobulin like receptor A5 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ILT11|LIR9|CD85|CD85f" leucocyte Ig-like receptor A5 LILRB7 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2005-04-14 2005-05-13 2016-01-14 2023-03-15 353514 ENSG00000187116 OTTHUMG00000065357 uc032idp.1 AF212842 NM_181985 "CCDS12888|CCDS12889" A6NI73 10941842 MGI:3647196 RGD:1582781 606047 I43.001 CD85f HGNC:16309 "ENST00000432233.8|NM_021250.4" HGNC:15495 LILRA6 leukocyte immunoglobulin like receptor A6 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ILT8|CD85b" leucocyte Ig-like receptor A6 LILRB6 "leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6|leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6" "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2005-04-14 2005-05-17 2016-01-14 2023-01-20 79168 ENSG00000244482 OTTHUMG00000066635 uc032idf.2 AF041262 NM_024318 CCDS42610 Q6PI73 10941842 "MGI:1195969|MGI:1195970|MGI:3705216|MGI:3709645" RGD:1307219 CD85b HGNC:15495 -HGNC:6605 LILRB1 leukocyte immunoglobulin like receptor B1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-1|ILT2|MIR-7|CD85|LIR1|CD85j|PIRB|PIR-B" "myeloid inhibitory receptor 7|leucocyte Ig-like receptor B1" leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors" "471|1182" 2000-01-11 2016-01-14 2023-01-20 10859 ENSG00000104972 OTTHUMG00000065695 uc032iei.2 AF009220 NM_001081637 "CCDS42614|CCDS42617|CCDS42616|CCDS42615|CCDS62803" Q8NHL6 "9285411|9382880" MGI:894311 604811 I43.951 objectId:2973 CD85j HGNC:6605 "ENST00000324602.12|NM_001081637.3" +HGNC:6605 LILRB1 leukocyte immunoglobulin like receptor B1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-1|ILT2|MIR-7|CD85|LIR1|CD85j|PIRB|PIR-B" "myeloid inhibitory receptor 7|leucocyte Ig-like receptor B1" leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors" "471|1182" 2000-01-11 2016-01-14 2023-01-20 10859 ENSG00000104972 OTTHUMG00000065695 uc032iei.2 AF009220 NM_001081637 "CCDS42617|CCDS42616|CCDS62803|CCDS42615|CCDS42614" Q8NHL6 "9285411|9382880" MGI:894311 604811 I43.951 objectId:2973 CD85j HGNC:6605 "ENST00000324602.12|NM_001081637.3" HGNC:53114 LILRB1-AS1 LILRB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 AC009892.10 Antisense RNAs 1987 2017-02-10 2017-02-10 109729136 ENSG00000224730 OTTHUMG00000149999 28103885 HGNC:6606 LILRB2 leukocyte immunoglobulin like receptor B2 protein-coding gene gene with protein product Approved 19q13.4 19q13.4 "LIR-2|ILT4|MIR-10|LIR2|CD85d|MIR10" "myeloid inhibitory receptor 10|leucocyte Ig-like receptor B2" leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors|Ig-like cell adhesion molecule family" "471|1182|1410" 2000-01-11 2016-01-14 2023-01-20 10288 ENSG00000131042 OTTHUMG00000064896 uc032idl.2 AF000574 NM_001080978 Q8N423 "9151699|9079806" MGI:894311 604815 CD85d HGNC:6606 "ENST00000314446.10|NM_001080978.4" HGNC:6607 LILRB3 leukocyte immunoglobulin like receptor B3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-3|HL9|ILT5|LIR3|CD85a|PIRB|PIR-B" leucocyte Ig-like receptor B3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors" "471|1182" 2000-01-11 2016-01-14 2023-01-20 11025 ENSG00000204577 OTTHUMG00000066626 uc061coq.1 U91928 NM_006864 "CCDS33105|CCDS46175" O75022 "9278324|9382880" "MGI:894311|MGI:1195969|MGI:1195970|MGI:1195971|MGI:1195974|MGI:3705216|MGI:3709645" RGD:1589827 604820 CD85a HGNC:6607 "ENST00000445347.2|NM_006864.4" -HGNC:6608 LILRB4 leukocyte immunoglobulin like receptor B4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-5|ILT3|HM18|LIR5|CD85k" leucocyte Ig-like receptor B4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors" "471|1182" 2000-01-11 2016-01-14 2023-01-20 11006 ENSG00000186818 OTTHUMG00000065879 uc002qgp.5 U82979 NM_001278426 "CCDS12902|CCDS92688|CCDS92687|CCDS42618" Q8NHJ6 "9151699|9079806" "MGI:102701|MGI:102702" RGD:1359090 604821 CD85k HGNC:6608 "ENST00000695418.1|NM_001278426.4" +HGNC:6608 LILRB4 leukocyte immunoglobulin like receptor B4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-5|ILT3|HM18|LIR5|CD85k" leucocyte Ig-like receptor B4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors" "471|1182" 2000-01-11 2016-01-14 2023-01-20 11006 ENSG00000186818 OTTHUMG00000065879 uc002qgp.5 U82979 NM_001278426 "CCDS42618|CCDS92688|CCDS12902|CCDS92687" Q8NHJ6 "9151699|9079806" "MGI:102701|MGI:102702" RGD:1359090 604821 CD85k HGNC:6608 "ENST00000695418.1|NM_001278426.4" HGNC:6609 LILRB5 leukocyte immunoglobulin like receptor B5 protein-coding gene gene with protein product Approved 19q13.4 19q13.4 "LIR-8|LIR8|CD85c" leucocyte Ig-like receptor B5 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors" "471|1182" 2000-01-11 2016-01-14 2023-01-20 10990 ENSG00000105609 OTTHUMG00000066636 uc002qex.4 AF025534 NM_001081442 O75023 9548455 MGI:894311 RGD:1566307 604814 CD85c HGNC:6609 "ENST00000449561.3|NM_001081442.3" HGNC:15496 LILRP1 leukocyte immunoglobulin-like receptor pseudogene 1 pseudogene pseudogene Approved 19q13.42 19q13.42 "ILT9|CD85l|LILRA6P" CD molecules 471 2005-05-13 2016-10-05 79167 ENSG00000186152 OTTHUMG00000065881 AF072102 NG_002681 10941842 CD85l HGNC:15496 HGNC:15497 LILRP2 leukocyte immunoglobulin-like receptor pseudogene 2 pseudogene pseudogene Approved 19q13.42 19q13.42 "ILT10|CD85m" CD molecules 471 2005-05-17 2021-10-07 79166 ENSG00000170858 OTTHUMG00000065886 AF072100 NR_003061 10941842 CD85m HGNC:15497 -HGNC:6610 LIM2 lens intrinsic membrane protein 2 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "MP19|MP17" "lens intrinsic membrane protein 2 (19kD)|lens intrinsic membrane protein 2, 19kDa" 1992-12-04 2015-11-09 2023-01-20 3982 ENSG00000105370 OTTHUMG00000182896 uc002pwm.3 NM_030657 "CCDS59415|CCDS12831" P55344 1606837 MGI:104698 RGD:621482 154045 159976 HGNC:6610 "ENST00000596399.2|NM_001161748.2" HGNC:6610 +HGNC:6610 LIM2 lens intrinsic membrane protein 2 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "MP19|MP17" "lens intrinsic membrane protein 2 (19kD)|lens intrinsic membrane protein 2, 19kDa" 1992-12-04 2015-11-09 2023-01-20 3982 ENSG00000105370 OTTHUMG00000182896 uc002pwm.3 NM_030657 "CCDS12831|CCDS59415" P55344 1606837 MGI:104698 RGD:621482 154045 159976 HGNC:6610 "ENST00000596399.2|NM_001161748.2" HGNC:6610 HGNC:56004 LIM2-AS1 LIM2 and SIGLEC10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2021-11-25 2021-11-25 105372446 ENSG00000268889 XR_002958397 -HGNC:24636 LIMA1 LIM domain and actin binding 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 EPLIN epithelial protein lost in neoplasm beta "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2006-02-22 2023-01-20 51474 ENSG00000050405 OTTHUMG00000169852 uc001rwj.5 AF198454 NM_016357 "CCDS44877|CCDS55826|CCDS8802|CCDS58230" Q9UHB6 "10806352|10618726|12566430" MGI:1920992 RGD:1564050 608364 HGNC:24636 "ENST00000341247.9|NM_016357.5" +HGNC:24636 LIMA1 LIM domain and actin binding 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 EPLIN epithelial protein lost in neoplasm beta "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2006-02-22 2023-01-20 51474 ENSG00000050405 OTTHUMG00000169852 uc001rwj.5 AF198454 NM_016357 "CCDS55826|CCDS8802|CCDS44877|CCDS58230" Q9UHB6 "10806352|10618726|12566430" MGI:1920992 RGD:1564050 608364 HGNC:24636 "ENST00000341247.9|NM_016357.5" HGNC:56357 LIMASI lncRNA inflammatory and mucous response associated, antisense to ICAM1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 "LASI|AC011511.2" lncRNA on the antisense strand of ICAM-1 Long non-coding RNAs with non-systematic symbols 1992 2022-10-18 2022-10-18 105372272 ENSG00000266978 XR_007067137 "33122732|35774797|35789750" -HGNC:29191 LIMCH1 LIM and calponin homology domains 1 protein-coding gene gene with protein product Approved 4p13 04p13 "DKFZP686A01247|LIMCH1A|LMO7B" LIM domain containing 1218 2007-06-14 2008-01-09 2023-01-20 22998 ENSG00000064042 OTTHUMG00000160575 uc003gvu.6 AB029025 NM_014988 "CCDS47047|CCDS54765|CCDS54763|CCDS75119|CCDS82920|CCDS33977|CCDS82919|CCDS87222|CCDS87221|CCDS54764|CCDS75121" Q9UPQ0 10470851 MGI:1924819 RGD:1305269 617750 HGNC:29191 "ENST00000503057.6|NM_001330672.2" +HGNC:29191 LIMCH1 LIM and calponin homology domains 1 protein-coding gene gene with protein product Approved 4p13 04p13 "DKFZP686A01247|LIMCH1A|LMO7B" LIM domain containing 1218 2007-06-14 2008-01-09 2023-01-20 22998 ENSG00000064042 OTTHUMG00000160575 uc003gvu.6 AB029025 NM_014988 "CCDS75119|CCDS87221|CCDS47047|CCDS82919|CCDS87222|CCDS75121|CCDS54764|CCDS54765|CCDS33977|CCDS54763|CCDS82920" Q9UPQ0 10470851 MGI:1924819 RGD:1305269 617750 HGNC:29191 "ENST00000503057.6|NM_001330672.2" HGNC:6612 LIMD1 LIM domain containing 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 LIM domains containing 1 Ajuba family 1403 1999-01-15 2021-01-05 2023-01-20 8994 ENSG00000144791 OTTHUMG00000133453 uc003coq.4 AJ132408 NM_014240 CCDS2729 Q9UGP4 10647888 MGI:1352502 RGD:1309830 604543 HGNC:6612 "ENST00000273317.5|NM_014240.3" HGNC:44107 LIMD1-AS1 LIMD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 LIMD1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-28 2012-08-15 2023-02-06 644714 ENSG00000230530 OTTHUMG00000156652 uc062ixr.1 AK026206 NR_033947 33869018 LIMD1-AS1 HGNC:44107 HGNC:28142 LIMD2 LIM domain containing 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 MGC10986 LIM domain containing 1218 2006-01-24 2023-01-20 80774 ENSG00000136490 OTTHUMG00000178907 uc002jbj.5 AK092301 NM_030576 CCDS11641 Q9BT23 24590809 MGI:1915053 RGD:1309967 HGNC:28142 "ENST00000259006.8|NM_030576.4" -HGNC:26016 LIME1 Lck interacting transmembrane adaptor 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ20406|dJ583P15.4|LIME" 2005-04-25 2023-01-20 54923 ENSG00000203896 OTTHUMG00000032999 uc002ygp.5 AK000413 NM_017806 "CCDS82638|CCDS13536" Q9H400 12477932 MGI:1919949 RGD:1562795 609809 HGNC:26016 "ENST00000309546.8|NM_017806.4" +HGNC:26016 LIME1 Lck interacting transmembrane adaptor 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ20406|dJ583P15.4|LIME" 2005-04-25 2023-01-20 54923 ENSG00000203896 OTTHUMG00000032999 uc002ygp.5 AK000413 NM_017806 "CCDS13536|CCDS82638" Q9H400 12477932 MGI:1919949 RGD:1562795 609809 HGNC:26016 "ENST00000309546.8|NM_017806.4" HGNC:6613 LIMK1 LIM domain kinase 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 LIMK "LIM domain containing|PDZ domain containing|LIMK/TESK kinase family" "1218|1220|1617" 1996-03-14 2023-01-20 3984 ENSG00000106683 OTTHUMG00000023448 uc003uaa.3 D26309 NM_002314 "CCDS5563|CCDS56491" P53667 "8673124|8812460" MGI:104572 RGD:62055 601329 123060 objectId:2054 HGNC:6613 "ENST00000336180.7|NM_002314.4" -HGNC:6614 LIMK2 LIM domain kinase 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "LIM domain containing|PDZ domain containing|LIMK/TESK kinase family" "1218|1220|1617" 1997-08-28 2023-01-20 3985 ENSG00000182541 OTTHUMG00000151251 uc003akh.4 D45906 NM_016733 "CCDS13891|CCDS13892|CCDS33637" P53671 "8537403|10591208" MGI:1197517 RGD:62056 601988 objectId:2055 HGNC:6614 "ENST00000331728.9|NM_005569.4" +HGNC:6614 LIMK2 LIM domain kinase 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "LIM domain containing|PDZ domain containing|LIMK/TESK kinase family" "1218|1220|1617" 1997-08-28 2023-01-20 3985 ENSG00000182541 OTTHUMG00000151251 uc003akh.4 D45906 NM_016733 "CCDS13891|CCDS33637|CCDS13892" P53671 "8537403|10591208" MGI:1197517 RGD:62056 601988 objectId:2055 HGNC:6614 "ENST00000331728.9|NM_005569.4" HGNC:54893 LIMK2P1 LIMK2 pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 2020-04-17 2020-04-17 139952 ENSG00000223418 NG_022582 -HGNC:6616 LIMS1 LIM zinc finger domain containing 1 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "PINCH|PINCH1" "particularly interesting new Cys-His protein 1|senescent cell antigen" "LIM and senescent cell antigen-like domains 1|LIM-type zinc finger domains 1" "LIMS zinc finger family|LIM domain containing" "1163|1218" 1998-01-15 2016-02-12 2023-01-20 3987 ENSG00000169756 OTTHUMG00000130983 uc002teh.3 NM_004987 "CCDS92832|CCDS54385|CCDS54384|CCDS54383|CCDS54382|CCDS2078|CCDS92833|CCDS92830|CCDS92829|CCDS92831" P48059 "7517666|10022929" MGI:1195263 RGD:1560732 602567 HGNC:6616 "ENST00000544547.6|NM_001193483.3" +HGNC:6616 LIMS1 LIM zinc finger domain containing 1 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "PINCH|PINCH1" "particularly interesting new Cys-His protein 1|senescent cell antigen" "LIM and senescent cell antigen-like domains 1|LIM-type zinc finger domains 1" "LIMS zinc finger family|LIM domain containing" "1163|1218" 1998-01-15 2016-02-12 2023-01-20 3987 ENSG00000169756 OTTHUMG00000130983 uc002teh.3 NM_004987 "CCDS92829|CCDS92833|CCDS92831|CCDS92830|CCDS2078|CCDS54382|CCDS54383|CCDS54385|CCDS54384|CCDS92832" P48059 "7517666|10022929" MGI:1195263 RGD:1560732 602567 HGNC:6616 "ENST00000544547.6|NM_001193483.3" HGNC:40342 LIMS1-AS1 LIMS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 Antisense RNAs 1987 2015-03-11 2015-03-11 106182118 ENSG00000228763 OTTHUMG00000153229 AA861200 NR_149074 LIMS1-AS1 HGNC:40342 -HGNC:16084 LIMS2 LIM zinc finger domain containing 2 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "PINCH2|PINCH-2" particularly interesting new Cys-His protein 2 "LIM and senescent cell antigen-like domains 2|LIM-type zinc finger domains 2" LIMS zinc finger family 1163 2001-07-26 2016-02-12 2023-01-20 55679 ENSG00000072163 OTTHUMG00000131529 uc002tox.4 AF520987 NM_017980 "CCDS54396|CCDS58725|CCDS54395|CCDS2147|CCDS54394" Q7Z4I7 12167643 MGI:2385067 RGD:1305273 607908 470608 HGNC:16084 "ENST00000355119.9|NM_001161403.3" HGNC:16084 -HGNC:30047 LIMS3 LIM zinc finger domain containing 3 protein-coding gene gene with protein product Approved 2q13 02q13 pinch 2 "LIM and senescent cell antigen-like domains 3|LIM-type zinc finger domains 3" "LIMS zinc finger family|LIM domain containing" "1163|1218" 2004-02-13 2016-02-12 2023-01-20 96626 ENSG00000256977 OTTHUMG00000191772 uc284ppv.1 AF288404 NM_033514 "CCDS2084|CCDS92835" P0CW19 HGNC:30047 "ENST00000480744.3|NM_001394901.1" +HGNC:16084 LIMS2 LIM zinc finger domain containing 2 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "PINCH2|PINCH-2" particularly interesting new Cys-His protein 2 "LIM and senescent cell antigen-like domains 2|LIM-type zinc finger domains 2" LIMS zinc finger family 1163 2001-07-26 2016-02-12 2023-01-20 55679 ENSG00000072163 OTTHUMG00000131529 uc002tox.4 AF520987 NM_017980 "CCDS54394|CCDS58725|CCDS54396|CCDS2147|CCDS54395" Q7Z4I7 12167643 MGI:2385067 RGD:1305273 607908 470608 HGNC:16084 "ENST00000355119.9|NM_001161403.3" HGNC:16084 +HGNC:30047 LIMS3 LIM zinc finger domain containing 3 protein-coding gene gene with protein product Approved 2q13 02q13 pinch 2 "LIM and senescent cell antigen-like domains 3|LIM-type zinc finger domains 3" "LIMS zinc finger family|LIM domain containing" "1163|1218" 2004-02-13 2016-02-12 2023-01-20 96626 ENSG00000256977 OTTHUMG00000191772 uc284ppv.1 AF288404 NM_033514 "CCDS92835|CCDS2084" P0CW19 HGNC:30047 "ENST00000480744.3|NM_001394901.1" HGNC:39941 LIMS4 LIM zinc finger domain containing 4 protein-coding gene gene with protein product Approved 2q13 02q13 LIMS3L "LIM and senescent cell antigen-like domains 3-like|LIM-type zinc finger domains 4" LIMS zinc finger family 1163 2011-04-14 2016-01-06 2016-02-12 2023-01-20 100288695 ENSG00000256671 OTTHUMG00000169984 uc284ppx.1 AK298340 NM_001205288 "CCDS92838|CCDS54387" P0CW20 HGNC:39941 "ENST00000632897.2|NM_001371340.3" HGNC:17787 LIN7A lin-7 homolog A, crumbs cell polarity complex component protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "MALS-1|TIP-33|LIN-7A|VELI1" mammalian LIN-7 1 lin-7 homolog A (C. elegans) "PDZ domain containing|Crumbs complex|MicroRNA protein coding host genes" "1220|1223|1691" 2002-09-19 2016-02-22 2023-01-20 8825 ENSG00000111052 OTTHUMG00000170168 uc001szi.4 AF028826 NM_001324423 CCDS9021 O14910 "10341223|17237226" MGI:2135609 RGD:621256 603380 HGNC:17787 "ENST00000552864.6|NM_004664.4" HGNC:17788 LIN7B lin-7 homolog B, crumbs cell polarity complex component protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MALS-2|LIN-7B|VELI2" lin-7 homolog B (C. elegans) "PDZ domain containing|Crumbs complex" "1220|1223" 2002-09-19 2016-02-22 2023-01-20 64130 ENSG00000104863 OTTHUMG00000134288 uc002pmp.3 AF311862 NM_022165 "CCDS77328|CCDS12757" Q9HAP6 10341223 MGI:1330858 RGD:620730 612331 HGNC:17788 "ENST00000221459.7|NM_022165.3" HGNC:17789 LIN7C lin-7 homolog C, crumbs cell polarity complex component protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "MALS-3|LIN-7C|LIN-7-C|VELI3|FLJ11215" LIN-7 protein 3 lin-7 homolog C (C. elegans) "PDZ domain containing|Crumbs complex" "1220|1223" 2002-09-19 2016-02-22 2023-01-20 55327 ENSG00000148943 OTTHUMG00000166193 uc001mrl.4 AK002077 NM_018362 CCDS7864 Q9NUP9 10341223 MGI:1330839 RGD:621164 612332 HGNC:17789 "ENST00000278193.7|NM_018362.4" -HGNC:30830 LIN9 lin-9 DREAM MuvB core complex component protein-coding gene gene with protein product Approved 1q42.12 01q42.12 TGS "TUDOR gene similar|rb related pathway actor" lin-9 homolog (C. elegans) 2004-11-16 2014-07-17 2023-01-20 286826 ENSG00000183814 OTTHUMG00000037557 uc001hqa.4 AY166858 NM_173083 "CCDS1553|CCDS91165|CCDS91164" Q5TKA1 "15538385|23667535" MGI:1919818 RGD:1591104 609375 HGNC:30830 "ENST00000681046.1|NM_001366245.2" +HGNC:30830 LIN9 lin-9 DREAM MuvB core complex component protein-coding gene gene with protein product Approved 1q42.12 01q42.12 TGS "TUDOR gene similar|rb related pathway actor" lin-9 homolog (C. elegans) 2004-11-16 2014-07-17 2023-01-20 286826 ENSG00000183814 OTTHUMG00000037557 uc001hqa.4 AY166858 NM_173083 "CCDS1553|CCDS91164|CCDS91165" Q5TKA1 "15538385|23667535" MGI:1919818 RGD:1591104 609375 HGNC:30830 "ENST00000681046.1|NM_001366245.2" HGNC:15986 LIN28A lin-28 homolog A protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "LIN-28|FLJ12457|ZCCHC1|CSDD1" LIN28 lin-28 homolog (C. elegans) Zinc fingers CCHC-type 74 2003-07-21 2010-04-06 2016-02-25 2023-01-20 79727 ENSG00000131914 OTTHUMG00000003550 uc001bmj.4 AF521099 NM_024674 CCDS280 Q9H9Z2 12798299 MGI:1890546 RGD:1566408 611043 HGNC:15986 "ENST00000326279.11|NM_024674.6" HGNC:38055 LIN28AP1 LIN28A pseudogene 1 pseudogene pseudogene Approved 2q32.1 02q32.1 lin-28 homolog A (C. elegans) pseudogene 1 2010-04-06 2013-09-12 2014-11-19 129402 ENSG00000213120 OTTHUMG00000154267 NG_021592 PGOHUM00000241038 HGNC:38055 HGNC:38056 LIN28AP2 LIN28A pseudogene 2 pseudogene pseudogene Approved 13q31.2 13q31.2 lin-28 homolog A (C. elegans) pseudogene 2 2010-04-06 2013-09-12 2014-11-19 100287388 ENSG00000228473 OTTHUMG00000017164 NG_022998 PGOHUM00000248452 HGNC:38056 @@ -14928,9 +14929,9 @@ HGNC:32207 LIN28B lin-28 homolog B protein-coding gene gene with protein product HGNC:21553 LIN28B-AS1 LIN28B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q16.3 06q16.3 dJ439I14.1 "C6orf220|LINC00577" "chromosome 6 open reading frame 220|long intergenic non-protein coding RNA 577" Antisense RNAs 1987 2007-08-02 2016-02-25 2016-02-25 2016-10-05 100113403 ENSG00000203809 OTTHUMG00000015289 uc031spf.1 "AW612153|BF223582" NR_046407 LIN28B-AS1 HGNC:21553 HGNC:33234 LIN37 lin-37 DREAM MuvB core complex component protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "ZK418.4|F25965|lin-37" lin-37 homolog (C. elegans) 2007-05-17 2014-07-17 2023-01-20 55957 ENSG00000267796 OTTHUMG00000182070 uc021usw.1 BC008939 NM_019104 CCDS62642 Q96GY3 21498570 MGI:1922910 RGD:1308901 HGNC:33234 "ENST00000301159.14|NM_019104.3" HGNC:19856 LIN52 lin-52 DREAM MuvB core complex component protein-coding gene gene with protein product Approved 14q24.3 14q24.3 C14orf46 "chromosome 14 open reading frame 46|lin-52 homolog (C. elegans)" 2002-11-27 2007-01-03 2014-07-17 2023-01-20 91750 ENSG00000205659 OTTHUMG00000171204 uc001xpp.3 AK023979 NM_001024674 CCDS32120 Q52LA3 "17075059|21498570" MGI:3045391 RGD:1306798 HGNC:19856 "ENST00000555028.7|NM_001024674.3" -HGNC:25397 LIN54 lin-54 DREAM MuvB core complex component protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "MIP120|DKFZp686L1814|JC8.6|CXCDC1|TCX1" CXC domain containing 1 lin-54 homolog (C. elegans) 2007-01-03 2014-07-17 2023-01-20 132660 ENSG00000189308 OTTHUMG00000130287 uc003hnx.5 BX537919 NM_194282 "CCDS3599|CCDS75157|CCDS47089" Q6MZP7 21498570 MGI:2140902 RGD:1311361 613367 HGNC:25397 "ENST00000340417.8|NM_194282.4" -HGNC:26885 LINC-PINT long intergenic non-protein coding RNA, p53 induced transcript non-coding RNA RNA, long non-coding Approved 7q32.3 07q32.3 "FLJ43663|PINT|LincRNA-Pint|LOC646329|PINT87aa" p53 induced noncoding transcript MKLN1-AS1 MKLN1 antisense RNA 1 (head to head) MicroRNA non-coding host genes 1688 2013-07-23 2013-10-07 2013-10-07 2023-04-28 378805 ENSG00000231721 OTTHUMG00000155000 BC130416 NR_015431 A0A455ZAR2 "24070194|24381249|30367041" MGI:2673128 618212 pint LINC-PINT HGNC:26885 -HGNC:43773 LINC-ROR long intergenic non-protein coding RNA, regulator of reprogramming non-coding RNA RNA, long non-coding Approved 18q21.31 18q21.31 "lincRNA-RoR|lincRNA-ST8SIA3|ROR" 2012-05-01 2016-12-01 100885779 ENSG00000258609 OTTHUMG00000171587 uc031ril.2 HQ315778 NR_048536 "21057500|23208419|23541921|23597480|24463816" 615173 lincRNA-RoR LINC-ROR HGNC:43773 +HGNC:25397 LIN54 lin-54 DREAM MuvB core complex component protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "MIP120|DKFZp686L1814|JC8.6|CXCDC1|TCX1" CXC domain containing 1 lin-54 homolog (C. elegans) 2007-01-03 2014-07-17 2023-01-20 132660 ENSG00000189308 OTTHUMG00000130287 uc003hnx.5 BX537919 NM_194282 "CCDS75157|CCDS3599|CCDS47089" Q6MZP7 21498570 MGI:2140902 RGD:1311361 613367 HGNC:25397 "ENST00000340417.8|NM_194282.4" +HGNC:26885 LINC-PINT long intergenic non-protein coding RNA, p53 induced transcript non-coding RNA RNA, long non-coding Approved 7q32.3 07q32.3 "FLJ43663|PINT|LincRNA-Pint|LOC646329|PINT87aa" p53 induced noncoding transcript MKLN1-AS1 MKLN1 antisense RNA 1 (head to head) "MicroRNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1992" 2013-07-23 2013-10-07 2013-10-07 2023-04-28 378805 ENSG00000231721 OTTHUMG00000155000 BC130416 NR_015431 A0A455ZAR2 "24070194|24381249|30367041" MGI:2673128 618212 pint LINC-PINT HGNC:26885 +HGNC:43773 LINC-ROR long intergenic non-protein coding RNA, regulator of reprogramming non-coding RNA RNA, long non-coding Approved 18q21.31 18q21.31 "lincRNA-RoR|lincRNA-ST8SIA3|ROR" Long non-coding RNAs with non-systematic symbols 1992 2012-05-01 2016-12-01 100885779 ENSG00000258609 OTTHUMG00000171587 uc031ril.2 HQ315778 NR_048536 "21057500|23208419|23541921|23597480|24463816" 615173 lincRNA-RoR LINC-ROR HGNC:43773 HGNC:16224 LINC00028 long intergenic non-protein coding RNA 28 non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 dJ1093G12.6 "C20orf93|NCRNA00028" "chromosome 20 open reading frame 93|non-protein coding RNA 28" Long intergenic non-protein coding RNAs 1986 2001-07-17 2011-08-10 2011-08-10 2012-10-12 140875 ENSG00000233354 OTTHUMG00000032166 uc010ztn.1 AL121751 NR_024358 LINC00028 HGNC:16224 HGNC:16184 LINC00029 long intergenic non-protein coding RNA 29 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 bA305P22.4 "C20orf51|NCRNA00029" "chromosome 20 open reading frame 51|non-protein coding RNA 29" Long intergenic non-protein coding RNAs 1986 2001-07-17 2011-08-10 2011-08-10 2013-08-16 100144596 ENSG00000125514 OTTHUMG00000032950 uc061ykm.1 "AL117533|BC069708|BC134343" NR_028295 11780052 LINC00029 HGNC:16184 HGNC:32028 LINC00051 long intergenic non-protein coding RNA 51 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 "C8orf43|NCRNA00051" "chromosome 8 open reading frame 43|non-protein coding RNA 51" Long intergenic non-protein coding RNAs 1986 2005-10-04 2011-08-10 2011-08-10 2012-10-12 619434 ENSG00000254008 OTTHUMG00000164636 uc011ljt.2 BC008253 NR_024378 LINC00051 HGNC:32028 @@ -15028,7 +15029,7 @@ HGNC:42500 LINC00343 long intergenic non-protein coding RNA 343 non-coding RNA R HGNC:42503 LINC00345 long intergenic non-protein coding RNA 345 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 Long intergenic non-protein coding RNAs 1986 2011-08-10 2014-11-18 105370208 ENSG00000235660 OTTHUMG00000016974 uc058xgz.1 NR_184202 LINC00345 HGNC:42503 HGNC:27890 LINC00347 long intergenic non-protein coding RNA 347 non-coding RNA RNA, long non-coding Approved 13q22.1 13q22.1 Long intergenic non-protein coding RNAs 1986 2011-08-11 2011-08-11 2014-11-18 338864 ENSG00000236678 OTTHUMG00000017082 uc058xlx.1 NR_034024 12477932 HGNC:27890 HGNC:42658 LINC00348 long intergenic non-protein coding RNA 348 non-coding RNA RNA, long non-coding Approved 13q21.33 13q21.33 Long intergenic non-protein coding RNAs 1986 2011-08-11 2011-08-11 2014-11-19 100885781 ENSG00000226846 OTTHUMG00000017059 uc031qmd.1 NR_047699 LINC00348 HGNC:42658 -HGNC:42667 LINC00349 long intergenic non-protein coding RNA 349 non-coding RNA RNA, long non-coding Approved 13q11 13q11 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-18 100874135 ENSG00000231238 OTTHUMG00000016451 uc058vrz.1 LINC00349 +HGNC:42667 LINC00349 long intergenic non-protein coding RNA 349 non-coding RNA RNA, long non-coding Approved 13q11 13q11 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-18 100874135 ENSG00000231238 OTTHUMG00000016451 uc058vrz.1 NR_046987 LINC00349 HGNC:42669 LINC00351 long intergenic non-protein coding RNA 351 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-18 100874137 ENSG00000226317 OTTHUMG00000017156 uc031qmo.2 NR_046989 LINC00351 HGNC:42669 HGNC:42670 LINC00352 long intergenic non-protein coding RNA 352 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-18 100874138 ENSG00000227893 OTTHUMG00000016567 uc058vxa.1 LINC00352 HGNC:42671 LINC00353 long intergenic non-protein coding RNA 353 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-18 100874139 ENSG00000236176 OTTHUMG00000017179 uc058xsl.1 NR_046991 LINC00353 HGNC:42671 @@ -15070,7 +15071,7 @@ HGNC:42727 LINC00398 long intergenic non-protein coding RNA 398 non-coding RNA R HGNC:42728 LINC00399 long intergenic non-protein coding RNA 399 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 TCONS_00021596 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-19 104326054 ENSG00000229792 OTTHUMG00000017337 "BX111569|AI023810" NR_126361 LINC00399 HGNC:42728 HGNC:42729 LINC00400 long intergenic non-protein coding RNA 400 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 100874159 ENSG00000229928 OTTHUMG00000016815 uc058wrk.1 NR_047013 LINC00400 HGNC:42729 HGNC:42732 LINC00402 long intergenic non-protein coding RNA 402 non-coding RNA RNA, long non-coding Approved 13q22.1 13q22.1 Long intergenic non-protein coding RNAs 1986 2011-08-16 2022-03-08 100507612 ENSG00000235532 OTTHUMG00000017079 uc001vji.2 NR_144451 33731431 LINC00402 HGNC:42732 -HGNC:42734 LINC00404 long intergenic non-protein coding RNA 404 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 100874160 ENSG00000229520 OTTHUMG00000017364 uc058yiw.1 LINC00404 +HGNC:42734 LINC00404 long intergenic non-protein coding RNA 404 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 100874160 ENSG00000229520 OTTHUMG00000017364 uc058yiw.1 NR_047014 LINC00404 HGNC:42739 LINC00407 long intergenic non-protein coding RNA 407 non-coding RNA RNA, long non-coding Approved 13q14.12 13q14.12 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-18 106144541 ENSG00000237585 OTTHUMG00000016839 BG959100 NR_149082 LINC00407 HGNC:42739 HGNC:42740 LINC00408 long intergenic non-protein coding RNA 408 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 Long intergenic non-protein coding RNAs 1986 2013-08-08 2016-10-05 100652856 ENSG00000226250 OTTHUMG00000016469 BG722014 NR_104118 LINC00408 HGNC:42740 HGNC:42742 LINC00410 long intergenic non-protein coding RNA 410 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-18 144776 ENSG00000231674 OTTHUMG00000017185 uc010tid.1 NR_027039 LINC00410 HGNC:42742 @@ -15244,7 +15245,7 @@ HGNC:27906 LINC00667 long intergenic non-protein coding RNA 667 non-coding RNA R HGNC:44328 LINC00668 long intergenic non-protein coding RNA 668 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Long intergenic non-protein coding RNAs 1986 2012-08-13 2019-07-12 400643 ENSG00000265933 OTTHUMG00000178875 uc002kng.1 NR_034100 "28564590|31150989" LINC00668 HGNC:44328 HGNC:44338 LINC00670 long intergenic non-protein coding RNA 670 non-coding RNA RNA, long non-coding Approved 17p12 17p12 "FLJ34690|CARDINAL" cardiac lncRNA transcribed adjacent to myocardin Long intergenic non-protein coding RNAs 1986 2012-08-14 2022-04-29 284034 ENSG00000179136 OTTHUMG00000058766 uc002gnl.3 "BC122870|DB255288" NR_034144 33985971 LINC00670 HGNC:44338 HGNC:44339 LINC00671 long intergenic non-protein coding RNA 671 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Long intergenic non-protein coding RNAs 1986 2012-08-14 2023-03-15 388387 ENSG00000213373 OTTHUMG00000132654 uc002iby.3 "AK055784|BC122868|DC361857" NR_027254 LINC00671 HGNC:44339 -HGNC:44354 LINC00673 long intergenic non-protein coding RNA 673 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 "HI-LNC75|SLNCR1|ERRLR01|LUCAIR1|RASON" "Human Islet Long Non Coding RNA 75|SRA-like non-coding RNA|lung cancer intergenic RNA 1|RAS-ON" Long intergenic non-protein coding RNAs 1986 2012-08-17 2023-01-05 100499467 "AK000477|AK129763" NR_036488 "23040067|27210747|27213290|36241718" 617079 HGNC:44354 +HGNC:44354 LINC00673 long intergenic non-protein coding RNA 673 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 "HI-LNC75|SLNCR1|ERRLR01|LUCAIR1|RASON" "Human Islet Long Non Coding RNA 75|SRA-like non-coding RNA|lung cancer intergenic RNA 1|RAS-ON" Long intergenic non-protein coding RNAs 1986 2012-08-17 2023-06-15 100499467 "AK000477|AK129763" NR_036488 "23040067|27210747|27213290|36241718" MGI:1919636 617079 HGNC:44354 HGNC:44355 LINC00674 long intergenic non-protein coding RNA 674 non-coding RNA RNA, long non-coding Approved 17q24.2 17q24.2 CALA cytoplasmic G3BP1-associated lncRNA Long intergenic non-protein coding RNAs 1986 2012-08-17 2022-10-03 100499466 ENSG00000237854 OTTHUMG00000132303 "BC045718|DA232946" NR_027418 "35893232|36118523" LINC00674 HGNC:44355 HGNC:44394 LINC00676 long intergenic non-protein coding RNA 676 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2012-09-24 2012-10-12 101409253 ENSG00000234854 OTTHUMG00000017340 uc032aov.2 AW816149 NR_103846 LINC00676 HGNC:44394 HGNC:20121 LINC00677 long intergenic non-protein coding RNA 677 non-coding RNA RNA, long non-coding Approved 14q32.32 14q32.32 C14orf74 chromosome 14 open reading frame 74 Long intergenic non-protein coding RNAs 1986 2002-12-18 2012-09-28 2012-09-28 2020-04-20 105370683 ENSG00000259717 OTTHUMG00000171889 uc059foy.1 AW182802 NR_138038 LINC00677 HGNC:20121 @@ -15495,7 +15496,7 @@ HGNC:49471 LINC01151 long intergenic non-protein coding RNA 1151 non-coding RNA HGNC:16752 LINC01152 long intergenic non-protein coding RNA 1152 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 "TCONS_00025128|CMPD|RP11-84E24.3" Long intergenic non-protein coding RNAs 1986 2013-12-11 2020-11-09 102606463 ENSG00000256124 OTTHUMG00000168039 "D43770|DB072529" NR_110124 "8789441|29084806" LINC01152 HGNC:16752 HGNC:49495 LINC01153 long intergenic non-protein coding RNA 1153 non-coding RNA RNA, long non-coding Approved 10q26.12 10q26.12 Long intergenic non-protein coding RNAs 1986 2013-12-20 2013-12-20 101927889 ENSG00000227143 OTTHUMG00000019173 XR_246197 LINC01153 HGNC:49495 HGNC:49504 LINC01154 long intergenic non-protein coding RNA 1154 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Long intergenic non-protein coding RNAs 1986 2014-01-02 2014-01-02 106144575 ENSG00000257477 OTTHUMG00000169932 AA082317 24344320 LINC01154 -HGNC:49512 LINC01157 long intergenic non-protein coding RNA 1157 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 "TCONS_00010378|linc-Enc1" Long intergenic non-protein coding RNAs 1986 2014-01-01 2017-01-27 105379037 24381249 MGI:3780541 618214 HGNC:49512 +HGNC:49512 LINC01157 long intergenic non-protein coding RNA 1157 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 "TCONS_00010378|linc-Enc1|Lncenc1" Long intergenic non-protein coding RNAs 1986 2014-01-01 2023-06-07 105379037 "24381249|36880658" MGI:3780541 618214 HGNC:49512 HGNC:49514 LINC01159 long intergenic non-protein coding RNA 1159 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 linc-Brn1b Long intergenic non-protein coding RNAs 1986 2014-01-01 2014-01-03 2014-01-03 2014-01-03 102682016 ENSG00000229743 OTTHUMG00000153064 AK095498 NR_110373 24381249 618208 LINC01159 HGNC:49514 HGNC:49525 LINC01160 long intergenic non-protein coding RNA 1160 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Long intergenic non-protein coding RNAs 1986 2014-01-03 2014-01-03 100129269 ENSG00000231346 OTTHUMG00000011958 BG742401 NR_034126 LINC01160 HGNC:49525 HGNC:49528 LINC01162 long intergenic non-protein coding RNA 1162 non-coding RNA RNA, long non-coding Approved 7p15.3 07p15.3 Long intergenic non-protein coding RNAs 1986 2014-01-07 2014-01-07 104355138 ENSG00000232790 OTTHUMG00000152589 CN412322 NR_126381 LINC01162 HGNC:49528 @@ -15539,7 +15540,7 @@ HGNC:41418 LINC01216 long intergenic non-protein coding RNA 1216 non-coding RNA HGNC:41419 LINC01217 long intergenic non-protein coding RNA 1217 non-coding RNA RNA, long non-coding Approved 4q24 04q24 EMCN-IT2 EMCN intronic transcript 2 (non-protein coding) Long intergenic non-protein coding RNAs 1986 2011-05-24 2014-01-29 2014-01-29 2014-11-18 100874276 ENSG00000251219 OTTHUMG00000161750 NR_046812 LINC01217 HGNC:41420 LINC01218 long intergenic non-protein coding RNA 1218 non-coding RNA RNA, long non-coding Approved 4q24 04q24 EMCN-IT1 EMCN intronic transcript 1 (non-protein coding) Long intergenic non-protein coding RNAs 1986 2011-05-24 2014-01-29 2014-01-29 2014-11-19 107986233 ENSG00000251636 OTTHUMG00000161011 LINC01218 HGNC:41420 HGNC:49653 LINC01219 long intergenic non-protein coding RNA 1219 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Long intergenic non-protein coding RNAs 1986 2014-01-25 2016-11-24 104355220 ENSG00000232987 OTTHUMG00000012473 BX092271 NR_126400 LINC01219 HGNC:49653 -HGNC:49664 LINC01220 long intergenic non-protein coding RNA 1220 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Long intergenic non-protein coding RNAs 1986 2014-01-31 2014-01-31 731223 ENSG00000259687 OTTHUMG00000171867 NR_038421 LINC01220 HGNC:49664 +HGNC:49664 LINC01220 long intergenic non-protein coding RNA 1220 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Long intergenic non-protein coding RNAs 1986 2014-01-31 2023-06-09 731223 ENSG00000259687 OTTHUMG00000171867 NR_038421 LINC01220 HGNC:49664 HGNC:49671 LINC01221 long intergenic non-protein coding RNA 1221 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 TCONS_00000366 Long intergenic non-protein coding RNAs 1986 2014-02-04 2016-11-24 104266961 ENSG00000235492 OTTHUMG00000035893 BG613973 NR_126351 LINC01221 HGNC:49671 HGNC:49672 LINC01222 long intergenic non-protein coding RNA 1222 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 TCONS_00000112 Long intergenic non-protein coding RNAs 1986 2014-02-04 2016-11-24 102800316 ENSG00000233410 OTTHUMG00000035892 BC040869 NR_110525 HGNC:49672 HGNC:49676 LINC01224 long intergenic non-protein coding RNA 1224 non-coding RNA RNA, long non-coding Approved 19p12 19p12 Long intergenic non-protein coding RNAs 1986 2014-02-04 2023-01-06 104472717 ENSG00000269416 OTTHUMG00000183272 NR_126448 LINC01224 HGNC:49676 @@ -15547,7 +15548,7 @@ HGNC:49678 LINC01226 long intergenic non-protein coding RNA 1226 non-coding RNA HGNC:49680 LINC01227 long intergenic non-protein coding RNA 1227 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 Long intergenic non-protein coding RNAs 1986 2014-02-05 2014-02-05 101928276 ENSG00000260737 OTTHUMG00000176267 NR_104665 LINC01227 HGNC:49680 HGNC:49681 LINC01228 long intergenic non-protein coding RNA 1228 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 lincRNA-DYNLRB2-2 Long intergenic non-protein coding RNAs 1986 2014-02-01 2014-02-05 104266962 ENSG00000261082 OTTHUMG00000176977 BM973870 NR_170199 24493833 LINC01228 HGNC:49682 LINC01229 long intergenic non-protein coding RNA 1229 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 TCONS_00024480 Long intergenic non-protein coding RNAs 1986 2014-10-23 2014-10-23 101928248 ENSG00000260876 OTTHUMG00000176975 NR_104661 LINC01229 HGNC:49682 -HGNC:49686 LINC01230 long intergenic non-protein coding RNA 1230 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 "linc-DMRT2|lnc-DRMT2|TCONS_00015639" Long intergenic non-protein coding RNAs 1986 2014-02-04 2016-11-24 102800446 ENSG00000281769 OTTHUMG00000189515 AK055761 NR_110643 24504737 HGNC:49686 +HGNC:49686 LINC01230 long intergenic non-protein coding RNA 1230 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 "linc-DMRT2|lnc-DRMT2|TCONS_00015639" Long intergenic non-protein coding RNAs 1986 2014-02-04 2023-06-15 102800446 ENSG00000281769 OTTHUMG00000189515 AK055761 NR_110643 24504737 HGNC:49686 HGNC:49688 LINC01231 long intergenic non-protein coding RNA 1231 non-coding RNA RNA, long non-coding Approved 9p24.2 09p24.2 Long intergenic non-protein coding RNAs 1986 2014-02-12 2014-02-12 101929247 ENSG00000236511 OTTHUMG00000019454 BC041456 NR_121585 LINC01231 HGNC:49688 HGNC:49755 LINC01232 long intergenic non-protein coding RNA 1232 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 "FLJ41590|TCONS_00021520" Long intergenic non-protein coding RNAs 1986 2014-02-14 2020-04-20 102725509 ENSG00000280734 OTTHUMG00000189525 AK123584 NR_110731 24522499 HGNC:49755 HGNC:49756 LINC01233 long intergenic non-protein coding RNA 1233 non-coding RNA RNA, long non-coding Approved 19p12 19p12 XLOC_013014 Long intergenic non-protein coding RNAs 1986 2014-02-14 2014-02-14 100128139 ENSG00000269364 OTTHUMG00000182980 DB454962 NR_110663 24522499 LINC01233 HGNC:49756 @@ -16006,7 +16007,7 @@ HGNC:52572 LINC01782 long intergenic non-protein coding RNA 1782 non-coding RNA HGNC:52573 LINC01783 long intergenic non-protein coding RNA 1783 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 100132147 ENSG00000233421 OTTHUMG00000002488 NR_135764 HGNC:52573 HGNC:52574 LINC01784 long intergenic non-protein coding RNA 1784 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105376745 ENSG00000228338 OTTHUMG00000041465 NR_146629 HGNC:52574 HGNC:25060 LINC01785 long intergenic non-protein coding RNA 1785 non-coding RNA RNA, long non-coding Approved 19p12 19p12 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-12-02 374890 ENSG00000268038 OTTHUMG00000182985 NR_135233 12477932 HGNC:25060 -HGNC:52575 LINC01786 long intergenic non-protein coding RNA 1786 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928895 ENSG00000230415 OTTHUMG00000002234 HGNC:52575 +HGNC:52575 LINC01786 long intergenic non-protein coding RNA 1786 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928895 ENSG00000230415 OTTHUMG00000002234 NR_185846 HGNC:52575 HGNC:52576 LINC01787 long intergenic non-protein coding RNA 1787 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928241 ENSG00000231987 OTTHUMG00000010690 NR_110693 HGNC:52576 HGNC:52577 LINC01788 long intergenic non-protein coding RNA 1788 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927244 ENSG00000229051 OTTHUMG00000009349 NR_125938 HGNC:52577 HGNC:52578 LINC01789 long intergenic non-protein coding RNA 1789 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105373536 ENSG00000229457 OTTHUMG00000153205 NR_183814 HGNC:52578 @@ -16144,7 +16145,7 @@ HGNC:52745 LINC01925 long intergenic non-protein coding RNA 1925 non-coding RNA HGNC:52748 LINC01926 long intergenic non-protein coding RNA 1926 non-coding RNA RNA, long non-coding Approved 18q21.32 18q21.32 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 105372147 ENSG00000267593 OTTHUMG00000180012 NR_146904 HGNC:52748 HGNC:52749 LINC01927 long intergenic non-protein coding RNA 1927 non-coding RNA RNA, long non-coding Approved 18q23 18q23 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 101927651 ENSG00000266312 OTTHUMG00000179326 NR_110784 HGNC:52749 HGNC:52750 LINC01928 long intergenic non-protein coding RNA 1928 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 105371994 ENSG00000267425 OTTHUMG00000178503 NR_146901 HGNC:52750 -HGNC:52751 LINC01929 long intergenic non-protein coding RNA 1929 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 CTD-2171N6.1 Long intergenic non-protein coding RNAs 1986 2016-12-07 2017-06-23 101927229 ENSG00000267013 OTTHUMG00000176191 NR_110743 28618399 HGNC:52751 +HGNC:52751 LINC01929 long intergenic non-protein coding RNA 1929 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 CTD-2171N6.1 Long intergenic non-protein coding RNAs 1986 2016-12-07 2023-06-07 101927229 ENSG00000267013 OTTHUMG00000176191 NR_110743 "28618399|36931128" HGNC:52751 HGNC:52744 LINC01930 long intergenic non-protein coding RNA 1930 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 EU358092 Long intergenic non-protein coding RNAs 1986 2016-12-07 2020-01-24 109729128 OTTHUMG00000183916 NR_146275 27913161 HGNC:52744 HGNC:52743 LINC01931 long intergenic non-protein coding RNA 1931 non-coding RNA RNA, long non-coding Approved 2q23.3 02q23.3 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 150596 ENSG00000162947 OTTHUMG00000153746 NR_145421 HGNC:52743 HGNC:52755 LINC01932 long intergenic non-protein coding RNA 1932 non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 105377682 ENSG00000253315 OTTHUMG00000163520 NR_134261 HGNC:52755 @@ -16574,7 +16575,7 @@ HGNC:53292 LINC02369 long intergenic non-protein coding RNA 2369 non-coding RNA HGNC:27885 LINC02370 long intergenic non-protein coding RNA 2370 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 338797 ENSG00000230294 OTTHUMG00000168301 NR_103736 HGNC:27885 HGNC:53293 LINC02371 long intergenic non-protein coding RNA 2371 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 107984539 ENSG00000274659 OTTHUMG00000187093 HGNC:53293 HGNC:53294 LINC02372 long intergenic non-protein coding RNA 2372 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 440117 ENSG00000249873 OTTHUMG00000168453 NR_033970 HGNC:53294 -HGNC:53295 LINC02373 long intergenic non-protein coding RNA 2373 non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369822 ENSG00000257507 OTTHUMG00000169359 HGNC:53295 +HGNC:53295 LINC02373 long intergenic non-protein coding RNA 2373 non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369822 ENSG00000257507 OTTHUMG00000169359 NR_185917 HGNC:53295 HGNC:53296 LINC02374 long intergenic non-protein coding RNA 2374 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105377600 ENSG00000249747 OTTHUMG00000160312 NR_147159 HGNC:53296 HGNC:53297 LINC02375 long intergenic non-protein coding RNA 2375 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927616 ENSG00000256362 OTTHUMG00000168445 NR_110057 HGNC:53297 HGNC:53298 LINC02376 long intergenic non-protein coding RNA 2376 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105370065 ENSG00000256292 OTTHUMG00000168443 NR_146537 HGNC:53298 @@ -16965,7 +16966,7 @@ HGNC:27923 LINC02774 long intergenic non-protein coding RNA 2774 non-coding RNA HGNC:54294 LINC02775 long intergenic non-protein coding RNA 2775 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105372911 ENSG00000283518 XR_922584 HGNC:54294 HGNC:54297 LINC02777 long intergenic non-protein coding RNA 2777 non-coding RNA RNA, long non-coding Approved 1p32.1 01p32.1 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105378753 ENSG00000232453 NR_183655 HGNC:54297 HGNC:54298 LINC02778 long intergenic non-protein coding RNA 2778 non-coding RNA RNA, long non-coding Approved 1p32.1 01p32.1 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105378760 ENSG00000238242 XR_947430 HGNC:54298 -HGNC:54299 LINC02779 long intergenic non-protein coding RNA 2779 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105372929 ENSG00000231529 HGNC:54299 +HGNC:54299 LINC02779 long intergenic non-protein coding RNA 2779 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105372929 ENSG00000231529 NR_185879 HGNC:54299 HGNC:54300 LINC02780 long intergenic non-protein coding RNA 2780 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105376673 ENSG00000284668 HGNC:54300 HGNC:54301 LINC02781 long intergenic non-protein coding RNA 2781 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105376680 ENSG00000284674 XR_946900 HGNC:54301 HGNC:54302 LINC02782 long intergenic non-protein coding RNA 2782 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105376681 ENSG00000231510 NR_183671 HGNC:54302 @@ -17001,7 +17002,7 @@ HGNC:54344 LINC02812 long intergenic non-protein coding RNA 2812 non-coding RNA HGNC:54345 LINC02813 long intergenic non-protein coding RNA 2813 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 107985338 ENSG00000225334 XR_001738495 HGNC:54345 HGNC:54346 LINC02814 long intergenic non-protein coding RNA 2814 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 112267873 ENSG00000236975 HGNC:54346 HGNC:54347 LINC02815 long intergenic non-protein coding RNA 2815 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105373158 ENSG00000282111 XR_002958487 HGNC:54347 -HGNC:54348 LINC02816 long intergenic non-protein coding RNA 2816 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105371638 ENSG00000225857 HGNC:54348 +HGNC:54348 LINC02816 long intergenic non-protein coding RNA 2816 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105371638 ENSG00000225857 NR_185877 HGNC:54348 HGNC:32042 LINC02817 long intergenic non-protein coding RNA 2817 non-coding RNA RNA, long non-coding Approved 1q41 01q41 FLJ46636 C1orf140 chromosome 1 open reading frame 140 Long intergenic non-protein coding RNAs 1986 2005-07-08 2023-03-15 400804 ENSG00000234754 OTTHUMG00000037427 AK128488 NR_024236 HGNC:32042 HGNC:54349 LINC02818 long intergenic non-protein coding RNA 2818 non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 107985229 ENSG00000231966 XR_001738312 HGNC:54349 HGNC:54350 LINC02819 long intergenic non-protein coding RNA 2819 non-coding RNA RNA, long non-coding Approved 1q23.2 01q23.2 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105371462 ENSG00000224943 XR_007069449 HGNC:54350 @@ -17017,7 +17018,7 @@ HGNC:54359 LINC02828 long intergenic non-protein coding RNA 2828 non-coding RNA HGNC:54362 LINC02829 long intergenic non-protein coding RNA 2829 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375009 ENSG00000229274 NR_183359 HGNC:54362 HGNC:54363 LINC02830 long intergenic non-protein coding RNA 2830 non-coding RNA RNA, long non-coding Approved 7q31.33 07q31.33 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375486 ENSG00000224899 NR_183377 HGNC:54363 HGNC:54365 LINC02831 long intergenic non-protein coding RNA 2831 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 102724373 ENSG00000224173 NR_183412 HGNC:54365 -HGNC:54366 LINC02832 long intergenic non-protein coding RNA 2832 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105373886 ENSG00000227308 HGNC:54366 +HGNC:54366 LINC02832 long intergenic non-protein coding RNA 2832 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105373886 ENSG00000227308 NR_185880 HGNC:54366 HGNC:54367 LINC02833 long intergenic non-protein coding RNA 2833 non-coding RNA RNA, long non-coding Approved 14q32.12 14q32.12 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105370629 ENSG00000258742 NR_184263 HGNC:54367 HGNC:54368 LINC02834 long intergenic non-protein coding RNA 2834 non-coding RNA RNA, long non-coding Approved 9q21.33 09q21.33 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105376124 ENSG00000285686 XR_930069 HGNC:54368 HGNC:54369 LINC02835 long intergenic non-protein coding RNA 2835 non-coding RNA RNA, long non-coding Approved 4q13.1 04q13.1 lncMER52A liver cancer-specific oncogenic long non-coding RNA transcribed by MER52A LTR retrotransposon of the ERV1 class Long intergenic non-protein coding RNAs 1986 2019-05-17 2020-01-10 105377256 ENSG00000285711 XR_002959796 31874857 HGNC:54369 @@ -17086,7 +17087,6 @@ HGNC:27964 LINC02900 long intergenic non-protein coding RNA 2900 non-coding RNA HGNC:21179 LINC02901 long intergenic non-protein coding RNA 2901 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 yR211F11.1 C6orf99 "chromosome 6 open reading frame 99|chromosome 6 putative open reading frame 99" Long intergenic non-protein coding RNAs 1986 2003-11-26 2021-02-12 2021-02-12 2023-03-15 100130967 ENSG00000203711 OTTHUMG00000015921 uc063sod.1 NR_160976 Q4VX62 HGNC:21179 HGNC:34432 LINC02902 long intergenic non-protein coding RNA 2902 non-coding RNA RNA, long non-coding Approved 7p12.3 07p12.3 FLJ44108 C7orf65 "chromosome 7 open reading frame 65|chromosome 7 putative open reading frame 65" Long intergenic non-protein coding RNAs 1986 2009-02-02 2021-02-12 2021-02-12 2023-03-15 401335 ENSG00000221845 OTTHUMG00000155550 uc010kyp.2 NR_171030 Q6ZTY9 HGNC:34432 HGNC:33712 LINC02903 long intergenic non-protein coding RNA 2903 non-coding RNA RNA, long non-coding Approved 7q31.1 07q31.1 C7orf66 "chromosome 7 open reading frame 66|chromosome 7 putative open reading frame 66" Long intergenic non-protein coding RNAs 1986 2009-03-06 2021-02-15 2021-02-15 2023-03-15 154907 ENSG00000205174 OTTHUMG00000154867 uc003vfo.4 AF103078 NR_171002 HGNC:33712 -HGNC:26731 LINC02904 long intergenic non-protein coding RNA 2904 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 FLJ37131 C8orf31 "chromosome 8 open reading frame 31 (putative)|chromosome 8 open reading frame 31" Long intergenic non-protein coding RNAs 1986 2005-07-18 2021-02-15 2021-02-15 2023-03-15 286122 ENSG00000177335 OTTHUMG00000164771 uc003yxq.2 NR_126398 HGNC:26731 HGNC:32200 LINC02905 long intergenic non-protein coding RNA 2905 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 "FLJ30972|G4DM" GATA4 downstream membrane protein C8orf49 "chromosome 8 open reading frame 49 (putative)|chromosome 8 open reading frame 49|chromosome 8 putative open reading frame 49" Long intergenic non-protein coding RNAs 1986 2005-08-11 2021-02-15 2021-02-15 2023-03-06 606553 OTTHUMG00000165224 uc003wud.2 AK055534 NR_171032 HGNC:32200 HGNC:42974 LINC02906 long intergenic non-protein coding RNA 2906 non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 C8orf87 "chromosome 8 open reading frame 87|chromosome 8 putative open reading frame 87" Long intergenic non-protein coding RNAs 1986 2012-02-17 2021-02-15 2021-02-15 2023-03-15 389676 ENSG00000279847 OTTHUMG00000164196 uc003yft.2 NR_161372 E5RJ46 HGNC:42974 HGNC:28581 LINC02907 long intergenic non-protein coding RNA 2907 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 MGC35463 C9orf62 "chromosome 9 open reading frame 62|chromosome 9 putative open reading frame 62" Long intergenic non-protein coding RNAs 1986 2004-01-06 2021-02-15 2021-02-15 2023-03-15 157927 ENSG00000178243 OTTHUMG00000020900 uc004cfo.4 BC034752 NR_171012 12477932 HGNC:28581 @@ -17099,7 +17099,7 @@ HGNC:31370 LINC02913 long intergenic non-protein coding RNA 2913 non-coding RNA HGNC:26375 LINC02914 long intergenic non-protein coding RNA 2914 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 FLJ25773 C14orf177 "chromosome 14 open reading frame 177|chromosome 14 putative open reading frame 177" Long intergenic non-protein coding RNAs 1986 2006-06-16 2021-03-05 2021-03-05 2023-03-15 283598 ENSG00000176605 OTTHUMG00000167745 uc001yfz.3 AK098639 NR_161368 Q52M58 "26365416|28891297" HGNC:26375 HGNC:33797 LINC02915 long intergenic non-protein coding RNA 2915 non-coding RNA RNA, long non-coding Approved 15q14 15q14 FLJ39531 C15orf54 "chromosome 15 open reading frame 54 (putative)|chromosome 15 open reading frame 54|chromosome 15 putative open reading frame 54" Long intergenic non-protein coding RNAs 1986 2007-11-21 2021-03-05 2021-03-05 2023-03-15 400360 ENSG00000175746 OTTHUMG00000129843 uc059hne.1 NR_144507 Q8N8G6 MGI:5592088 HGNC:33797 HGNC:55574 LINC02916 long intergenic non-protein coding RNA 2916 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 TCONS_00018175 Long intergenic non-protein coding RNAs 1986 2021-04-21 2021-04-21 121232376 ENSG00000230555 -HGNC:55643 LINC02917 long intergenic non-protein coding RNA 2917 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Long intergenic non-protein coding RNAs 1986 2021-06-25 2021-06-25 121832814 ENSG00000239941 +HGNC:55643 LINC02917 long intergenic non-protein coding RNA 2917 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Long intergenic non-protein coding RNAs 1986 2021-06-25 2021-06-25 121832814 ENSG00000239941 NR_186000 HGNC:55649 LINC02918 long intergenic non-protein coding RNA 2918 non-coding RNA RNA, long non-coding Approved 1p34.1 01p34.1 AL357079.1 Long intergenic non-protein coding RNAs 1986 2021-06-28 2022-12-21 105378688 ENSG00000237950 XR_947283 36344648 HGNC:55653 LINC02919 long intergenic non-protein coding RNA 2919 non-coding RNA RNA, long non-coding Approved 6q24.2 06q24.2 Long intergenic non-protein coding RNAs 1986 2021-06-28 2021-06-28 105378032 ENSG00000237494 XR_001744395 HGNC:55660 LINC02920 long intergenic non-protein coding RNA 2920 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 Long intergenic non-protein coding RNAs 1986 2021-06-30 2021-06-30 121832815 ENSG00000236471 @@ -17117,13 +17117,13 @@ HGNC:55875 LINC02932 long intergenic non-protein coding RNA 2932 non-coding RNA HGNC:55908 LINC02933 long intergenic non-protein coding RNA 2933 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 AC012213.3 Long intergenic non-protein coding RNAs 1986 2021-10-06 2021-10-06 122965334 ENSG00000266289 34557038 HGNC:55913 LINC02934 long intergenic non-protein coding RNA 2934 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2021-10-08 2021-10-08 105369168 ENSG00000204929 XR_007086560 HGNC:55939 LINC02935 long intergenic non-protein coding RNA 2935 non-coding RNA RNA, long non-coding Approved 10q25.2 10q25.2 AL158212.1 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 107984158 ENSG00000225292 XR_001747706 -HGNC:55940 LINC02936 long intergenic non-protein coding RNA 2936 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 AC017074.1 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 123464517 ENSG00000227359 +HGNC:55940 LINC02936 long intergenic non-protein coding RNA 2936 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 AC017074.1 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 123464517 ENSG00000227359 NR_186169 HGNC:55942 LINC02937 long intergenic non-protein coding RNA 2937 non-coding RNA RNA, long non-coding Approved 9q22.2 09q22.2 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 100507103 ENSG00000230537 NR_184105 HGNC:55952 LINC02938 long intergenic non-protein coding RNA 2938 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 123464514 ENSG00000230731 HGNC:55954 LINC02939 long intergenic non-protein coding RNA 2939 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 642648 ENSG00000235159 NR_148973 HGNC:55955 LINC02940 long intergenic non-protein coding RNA 2940 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 CCMAlnc colorectal cancer metastasis-associated lncRNA Long intergenic non-protein coding RNAs 1986 2021-11-10 2023-02-02 102724740 ENSG00000235888 XR_007067865 33681178 HGNC:55956 LINC02941 long intergenic non-protein coding RNA 2941 non-coding RNA RNA, long non-coding Approved 6q24.1 06q24.1 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 100507477 ENSG00000236013 NR_121622 -HGNC:55957 LINC02942 long intergenic non-protein coding RNA 2942 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 123464520 ENSG00000237074 +HGNC:55957 LINC02942 long intergenic non-protein coding RNA 2942 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Long intergenic non-protein coding RNAs 1986 2021-11-10 2023-06-12 124904497 ENSG00000237074 XR_007066846 HGNC:55958 LINC02943 long intergenic non-protein coding RNA 2943 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 107985484 ENSG00000237609 XR_001755054 HGNC:55959 LINC02944 long intergenic non-protein coding RNA 2944 non-coding RNA RNA, long non-coding Approved 10q26.11 10q26.11 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 101927760 ENSG00000238276 XR_001747602 HGNC:55960 LINC02945 long intergenic non-protein coding RNA 2945 non-coding RNA RNA, long non-coding Approved 4q25 04q25 AC004704.1 Long intergenic non-protein coding RNAs 1986 2021-11-10 2022-10-17 123464519 ENSG00000249815 @@ -17132,10 +17132,10 @@ HGNC:55962 LINC02947 long intergenic non-protein coding RNA 2947 non-coding RNA HGNC:55963 LINC02948 long intergenic non-protein coding RNA 2948 non-coding RNA RNA, long non-coding Approved 8p12 08p12 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 105379351 ENSG00000253182 XR_001745861 HGNC:55964 LINC02949 long intergenic non-protein coding RNA 2949 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 123466202 ENSG00000253505 HGNC:55965 LINC02950 long intergenic non-protein coding RNA 2950 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 123466212 ENSG00000254153 -HGNC:55967 LINC02951 long intergenic non-protein coding RNA 2951 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 2021-11-11 123466204 ENSG00000255503 -HGNC:55968 LINC02952 long intergenic non-protein coding RNA 2952 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 123466213 ENSG00000255606 +HGNC:55967 LINC02951 long intergenic non-protein coding RNA 2951 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 2021-11-11 123466204 ENSG00000255503 NR_186233 +HGNC:55968 LINC02952 long intergenic non-protein coding RNA 2952 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 123466213 ENSG00000255606 NR_186235 HGNC:55970 LINC02953 long intergenic non-protein coding RNA 2953 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 102724265 ENSG00000255980 NR_172877 -HGNC:55972 LINC02954 long intergenic non-protein coding RNA 2954 non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 123466205 ENSG00000256733 +HGNC:55972 LINC02954 long intergenic non-protein coding RNA 2954 non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 123466205 ENSG00000256733 NR_186234 HGNC:55973 LINC02955 long intergenic non-protein coding RNA 2955 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 107984516 ENSG00000256995 XR_001749045 HGNC:55976 LINC02956 long intergenic non-protein coding RNA 2956 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 123466207 ENSG00000259854 HGNC:55977 LINC02957 long intergenic non-protein coding RNA 2957 non-coding RNA RNA, long non-coding Approved 9q22.2 09q22.2 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 105376144 ENSG00000260454 NR_184136 @@ -17143,14 +17143,14 @@ HGNC:55981 LINC02958 long intergenic non-protein coding RNA 2958 non-coding RNA HGNC:55982 LINC02959 long intergenic non-protein coding RNA 2959 non-coding RNA RNA, long non-coding Approved 19q12 19q12 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 123466209 ENSG00000267599 HGNC:55985 LINC02960 long intergenic non-protein coding RNA 2960 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 123466210 ENSG00000275198 HGNC:55986 LINC02961 long intergenic non-protein coding RNA 2961 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 PP2672 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 100130249 ENSG00000279261 NR_148962 -HGNC:53945 LINC02963 long intergenic non-protein coding RNA 2963 non-coding RNA RNA, long non-coding Approved 12p11.1 12p11.1 lncRNA-p3134 Long intergenic non-protein coding RNAs 1986 2021-11-18 2021-11-18 123706542 ENSG00000255652 OTTHUMG00000169290 29590649 +HGNC:53945 LINC02963 long intergenic non-protein coding RNA 2963 non-coding RNA RNA, long non-coding Approved 12p11.1 12p11.1 lncRNA-p3134 Long intergenic non-protein coding RNAs 1986 2021-11-18 2021-11-18 123706542 ENSG00000255652 OTTHUMG00000169290 NR_185896 29590649 HGNC:53487 LINC02964 long intergenic non-protein coding RNA 2964 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 Long intergenic non-protein coding RNAs 1986 2021-11-18 2021-11-18 105375746 ENSG00000286122 XR_001746072 -HGNC:56003 LINC02965 long intergenic non-protein coding RNA 2965 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 CTC-523E23.5 Long intergenic non-protein coding RNAs 1986 2021-11-25 2021-11-25 123497957 ENSG00000269086 26556537 +HGNC:56003 LINC02965 long intergenic non-protein coding RNA 2965 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 CTC-523E23.5 Long intergenic non-protein coding RNAs 1986 2021-11-25 2021-11-25 123497957 ENSG00000269086 NR_186333 26556537 HGNC:56006 LINC02966 long intergenic non-protein coding RNA 2966 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 AC016745.3 Long intergenic non-protein coding RNAs 1986 2021-11-29 2021-11-29 101927400 ENSG00000234997 NR_183358 HGNC:56007 LINC02967 long intergenic non-protein coding RNA 2967 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 AL035661.1 Long intergenic non-protein coding RNAs 1986 2021-11-29 2021-11-29 105372578 ENSG00000274173 XR_001754563 33759345 HGNC:56008 LINC02968 long intergenic non-protein coding RNA 2968 non-coding RNA RNA, long non-coding Approved Xp22.33 and Yp11.2 Xp22.33 and Yp11.2 AL683807.1 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 105373105 ENSG00000223511 XR_001755765 HGNC:56010 LINC02970 long intergenic non-protein coding RNA 2970 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 105372712 ENSG00000273812 NR_184037 -HGNC:56012 LINC02971 long intergenic non-protein coding RNA 2971 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 AL391832.1 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 123706537 ENSG00000237520 +HGNC:56012 LINC02971 long intergenic non-protein coding RNA 2971 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 AL391832.1 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 123706537 ENSG00000237520 NR_186179 HGNC:56013 LINC02972 long intergenic non-protein coding RNA 2972 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 AC092490.1 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 123706525 ENSG00000249790 XR_007063204 HGNC:56015 LINC02973 long intergenic non-protein coding RNA 2973 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 AC010904.2 Long intergenic non-protein coding RNAs 1986 2021-12-01 2022-01-17 123706551 ENSG00000272002 HGNC:56017 LINC02974 long intergenic non-protein coding RNA 2974 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 AP005671.1 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 123706546 ENSG00000266288 @@ -17168,7 +17168,7 @@ HGNC:56073 LINC02985 long intergenic non-protein coding RNA 2985 non-coding RNA HGNC:56083 LINC02986 long intergenic non-protein coding RNA 2986 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 Long intergenic non-protein coding RNAs 1986 2021-12-20 2021-12-20 123689089 ENSG00000260317 HGNC:56093 LINC02987 long intergenic non-protein coding RNA 2987 non-coding RNA RNA, long non-coding Approved 19q11 19q11 Long intergenic non-protein coding RNAs 1986 2021-12-20 2021-12-20 101927151 ENSG00000267575 NR_146733 HGNC:56098 LINC02988 long intergenic non-protein coding RNA 2988 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 Long intergenic non-protein coding RNAs 1986 2022-01-05 2022-01-05 105371433 ENSG00000285554 NR_135098 -HGNC:56100 LINC02989 long intergenic non-protein coding RNA 2989 non-coding RNA RNA, long non-coding Approved 11p15.3 11p15.3 lnc-MICAL2-1 Long intergenic non-protein coding RNAs 1986 2022-01-05 2022-03-02 125177370 ENSG00000255400 34970696 +HGNC:56100 LINC02989 long intergenic non-protein coding RNA 2989 non-coding RNA RNA, long non-coding Approved 11p15.3 11p15.3 lnc-MICAL2-1 Long intergenic non-protein coding RNAs 1986 2022-01-05 2022-03-02 125177370 ENSG00000255400 NR_186297 34970696 HGNC:56101 LINC02990 long intergenic non-protein coding RNA 2990 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 RP11-909N17.2 Long intergenic non-protein coding RNAs 1986 2022-01-05 2022-01-05 107986984 ENSG00000253931 34957995 HGNC:33810 LINC02991 long intergenic non-protein coding RNA 2991 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2022-01-05 2023-03-15 401040 ENSG00000196758 OTTHUMG00000133345 NR_172921 HGNC:49287 LINC02992 long intergenic non-protein coding RNA 2992 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 Long intergenic non-protein coding RNAs 1986 2022-01-06 2022-01-06 100499194 NR_034130 @@ -17217,7 +17217,7 @@ HGNC:54360 LINC03034 long intergenic non-protein coding RNA 3034 non-coding RNA HGNC:56211 LINC03035 long intergenic non-protein coding RNA 3035 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 Long intergenic non-protein coding RNAs 1986 2022-02-24 2022-02-24 105372125 XR_935478 35191423 HGNC:56220 LINC03036 long intergenic non-protein coding RNA 3036 non-coding RNA RNA, long non-coding Approved 10q26.11 10q26.11 TP53LC01 Long intergenic non-protein coding RNAs 1986 2022-04-20 2023-02-22 121366085 ENSG00000229272 XR_007062303 35609991 HGNC:56227 LINC03037 long intergenic non-protein coding RNA 3037 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 TP53LC17 Long intergenic non-protein coding RNAs 1986 2022-04-20 2022-07-22 125177375 ENSG00000230952 35609991 -HGNC:56234 LINC03039 long intergenic non-protein coding RNA 3039 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 lncSIK1 Long intergenic non-protein coding RNAs 1986 2023-06-01 2023-06-01 105377137 NR_176223 35092119 +HGNC:56234 LINC03039 long intergenic non-protein coding RNA 3039 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 lncSIK1 Long intergenic non-protein coding RNAs 1986 2023-06-01 2023-06-01 105377137 NR_176219 35092119 HGNC:28692 LINC03040 long intergenic non-protein coding RNA 3040 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 MGC45491 C6orf223 chromosome 6 open reading frame 223 Long intergenic non-protein coding RNAs 1986 2007-12-19 2022-05-24 2022-05-24 2023-03-15 221416 ENSG00000181577 OTTHUMG00000014753 uc003own.4 BC032706 NR_160954 Q8N319 HGNC:28692 HGNC:19054 LINC03041 long intergenic non-protein coding RNA 3041 non-coding RNA RNA, long non-coding Approved 9p22.3 09p22.3 Em:AL513424.1 C9orf92 chromosome 9 open reading frame 92 Long intergenic non-protein coding RNAs 1986 2004-06-02 2022-05-25 2022-05-25 2023-03-15 100129385 ENSG00000205549 OTTHUMG00000019588 uc031tcu.2 NR_171034 A6NGG3 HGNC:19054 HGNC:33774 LINC03042 long intergenic non-protein coding RNA 3042 non-coding RNA RNA, long non-coding Approved 8p11.22 08p11.22 FLJ43582 C8orf86 chromosome 8 open reading frame 86 Long intergenic non-protein coding RNAs 1986 2009-03-03 2022-05-25 2022-05-25 2023-03-15 389649 ENSG00000196166 OTTHUMG00000163992 uc003xlx.1 BC137511 NR_167676 Q6ZUL3 HGNC:33774 @@ -17276,7 +17276,7 @@ HGNC:56743 LINC03096 long intergenic non-protein coding RNA 3096 non-coding RNA HGNC:56744 LINC03097 long intergenic non-protein coding RNA 3097 non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 Long intergenic non-protein coding RNAs 1986 2023-02-06 2023-02-06 128667230 ENSG00000231653 33868785 HGNC:56745 LINC03098 long intergenic non-protein coding RNA 3098 non-coding RNA RNA, long non-coding Approved Xq24 Xq24 Long intergenic non-protein coding RNAs 1986 2023-02-06 2023-02-06 101928336 ENSG00000230392 NR_110396 33867527 HGNC:56750 LINC03099 long intergenic non-protein coding RNA 3099 non-coding RNA RNA, long non-coding Approved Xp11.4 Xp11.4 Long intergenic non-protein coding RNAs 1986 2023-02-13 2023-02-13 101927476 ENSG00000236393 NR_110386 -HGNC:56763 LINC03100 long intergenic non-protein coding RNA 3100 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2023-03-06 2023-03-06 129810495 ENSG00000261186 +HGNC:56763 LINC03100 long intergenic non-protein coding RNA 3100 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2023-03-06 2023-03-06 129810495 ENSG00000261186 NR_186294 HGNC:56823 LINC03101 long intergenic non-protein coding RNA 3101 non-coding RNA RNA, long non-coding Approved 18q23 18q23 AC018445.6 Long intergenic non-protein coding RNAs 1986 2023-05-04 2023-05-04 129810497 ENSG00000286296 HGNC:40277 LINC03102 long intergenic non-protein coding RNA 3102 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 HHLA3-AS1 HHLA3 antisense RNA 1 Long intergenic non-protein coding RNAs 1986 2019-08-14 2023-05-05 2023-05-05 2023-05-05 102724548 ENSG00000226088 OTTHUMG00000009344 NR_183713 HGNC:40277 HGNC:48330 LINC03103 long intergenic non-protein coding RNA 3103 non-coding RNA RNA, long non-coding Approved THEG5 testis highly expressed protein 5 Long intergenic non-protein coding RNAs 1986 2023-05-15 2023-05-15 100507527 ENSG00000267465 OTTHUMG00000180518 NR_172934 @@ -17284,12 +17284,13 @@ HGNC:56834 LINC03104 long intergenic non-protein coding RNA 3104 non-coding RNA HGNC:56835 LINC03105 long intergenic non-protein coding RNA 3105 non-coding RNA RNA, long non-coding Approved 21p11.2 21p11.2 Long intergenic non-protein coding RNAs 1986 2023-05-15 2023-05-15 102724951 ENSG00000276077 NR_170980 HGNC:56836 LINC03106 long intergenic non-protein coding RNA 3106 non-coding RNA RNA, long non-coding Approved 9p21.2 09p21.2 Long intergenic non-protein coding RNAs 1986 2023-05-15 2023-05-15 100506422 ENSG00000276759 NR_170894 HGNC:56841 LINC03107 long intergenic non-protein coding RNA 3107 non-coding RNA RNA, long non-coding Approved 16p13.12 16p13.12 Long intergenic non-protein coding RNAs 1986 2023-05-17 2023-05-17 124903648 ENSG00000263257 XR_007065002 -HGNC:56844 LINC03108 long intergenic non-protein coding RNA 3108 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 AL391832.3 Long intergenic non-protein coding RNAs 1986 2023-06-01 2023-06-01 ENSG00000258082 -HGNC:56845 LINC03109 long intergenic non-protein coding RNA 3109 non-coding RNA RNA, long non-coding Approved 3q25.2 03q25.2 AC078788.1 Long intergenic non-protein coding RNAs 1986 2023-06-01 2023-06-01 105374166 ENSG00000241220 -HGNC:56846 LINC03110 long intergenic non-protein coding RNA 3110 non-coding RNA RNA, long non-coding Approved 18q21.32 18q21.32 Long intergenic non-protein coding RNAs 1986 2023-06-01 2023-06-01 102724745 ENSG00000275418 +HGNC:56844 LINC03108 long intergenic non-protein coding RNA 3108 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 AL391832.3 Long intergenic non-protein coding RNAs 1986 2023-06-01 2023-06-01 130512932 ENSG00000258082 NR_186308 +HGNC:56845 LINC03109 long intergenic non-protein coding RNA 3109 non-coding RNA RNA, long non-coding Approved 3q25.2 03q25.2 AC078788.1 Long intergenic non-protein coding RNAs 1986 2023-06-01 2023-06-01 105374166 ENSG00000241220 XR_001740975 +HGNC:56846 LINC03110 long intergenic non-protein coding RNA 3110 non-coding RNA RNA, long non-coding Approved 18q21.32 18q21.32 Long intergenic non-protein coding RNAs 1986 2023-06-01 2023-06-01 102724745 ENSG00000275418 XR_001753466 +HGNC:56850 LINC03111 long intergenic non-protein coding RNA 3111 non-coding RNA RNA, long non-coding Approved 18q21.32 18q21.32 AC090771.2 Long intergenic non-protein coding RNAs 1986 2023-06-08 2023-06-08 130572099 ENSG00000267686 36856146 HGNC:53956 LINCADL lincRNA adipogenesis and lipogenesis associated non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 linc-ADAL lincRNA for adipogenesis and lipogenesis Long non-coding RNAs with non-systematic symbols 1992 2018-09-06 2018-09-06 107986443 ENSG00000287148 NR_157226 29925637 HGNC:53956 -HGNC:49089 LINCMD1 long intergenic non-protein coding RNA, muscle differentiation 1 non-coding RNA RNA, long non-coding Approved 6p12.2 06p12.2 "MIR133BHG|LINC-MD1" MIR133B host gene (non-protein coding) 2013-08-29 2014-04-22 2014-02-19 2023-02-13 101154644 ENSG00000225613 OTTHUMG00000014842 BG461844 NR_131248 "22000014|24440503" MGI:5818206 614933 linc-MD1 LINCMD1 HGNC:49089 -HGNC:21205 LINGO1 leucine rich repeat and Ig domain containing 1 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "FLJ14594|LERN1" LRRN6A leucine rich repeat neuronal 6A I-set domain containing 593 2003-06-11 2007-02-01 2007-02-01 2023-01-20 84894 ENSG00000169783 OTTHUMG00000172629 uc059lzw.1 AK027500 NM_032808 "CCDS73766|CCDS45313" Q96FE5 14686891 MGI:1915522 RGD:1308668 609791 285742 objectId:2882 HGNC:21205 "ENST00000355300.7|NM_032808.7" HGNC:21205 +HGNC:49089 LINCMD1 long intergenic non-protein coding RNA, muscle differentiation 1 non-coding RNA RNA, long non-coding Approved 6p12.2 06p12.2 "MIR133BHG|LINC-MD1" MIR133B host gene (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-08-29 2014-04-22 2014-02-19 2023-02-13 101154644 ENSG00000225613 OTTHUMG00000014842 BG461844 NR_131248 "22000014|24440503" MGI:5818206 614933 linc-MD1 LINCMD1 HGNC:49089 +HGNC:21205 LINGO1 leucine rich repeat and Ig domain containing 1 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "FLJ14594|LERN1" LRRN6A leucine rich repeat neuronal 6A I-set domain containing 593 2003-06-11 2007-02-01 2007-02-01 2023-01-20 84894 ENSG00000169783 OTTHUMG00000172629 uc059lzw.1 AK027500 NM_032808 "CCDS45313|CCDS73766" Q96FE5 14686891 MGI:1915522 RGD:1308668 609791 285742 objectId:2882 HGNC:21205 "ENST00000355300.7|NM_032808.7" HGNC:21205 HGNC:27368 LINGO1-AS1 LINGO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q24.3 15q24.3 Antisense RNAs 1987 2014-11-21 2014-11-21 253044 ENSG00000259666 OTTHUMG00000172626 BC042092 NR_045123 12477932 LINGO1-AS1 HGNC:27368 HGNC:51423 LINGO1-AS2 LINGO1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 15q24.3 15q24.3 Antisense RNAs 1987 2014-11-21 2014-11-21 101929478 ENSG00000259281 OTTHUMG00000172627 BC038758 NR_120361 LINGO1-AS2 HGNC:51423 HGNC:21207 LINGO2 leucine rich repeat and Ig domain containing 2 protein-coding gene gene with protein product Approved 9p21.2-p21.1 09p21.2-p21.1 LERN3 LRRN6C leucine rich repeat neuronal 6C "I-set domain containing|MicroRNA protein coding host genes" "593|1691" 2003-06-11 2007-02-01 2007-02-01 2023-01-20 158038 ENSG00000174482 OTTHUMG00000019721 uc064smp.1 AL353746 NM_152570 CCDS6524 Q7L985 14686891 MGI:2442298 RGD:1310773 609793 HGNC:21207 "ENST00000698399.1|NM_001258282.3" @@ -17297,16 +17298,16 @@ HGNC:21206 LINGO3 leucine rich repeat and Ig domain containing 3 protein-coding HGNC:31814 LINGO4 leucine rich repeat and Ig domain containing 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LRRN6D leucine rich repeat neuronal 6D I-set domain containing 593 2004-09-03 2007-02-01 2007-02-01 2023-01-20 339398 ENSG00000213171 OTTHUMG00000013059 uc001ezf.2 NM_001004432 CCDS30855 Q6UY18 MGI:2444651 RGD:1562025 609794 HGNC:31814 "ENST00000368820.4|NM_001004432.4" HGNC:53170 LINP1 lncRNA in non-homologous end joining pathway 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 lncRNA in nonhomologous end joining (NHEJ) pathway 1 Long non-coding RNAs with non-systematic symbols 1992 2017-03-15 2020-10-14 108570035 ENSG00000223784 OTTHUMG00000017625 NR_138480 "27111890|33045735" HGNC:53170 HGNC:30922 LINS1 lines homolog 1 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 WINS1 "LINS|MRT27" "lines homolog 1 (Drosophila)|lines homolog (Drosophila)|mental retardation, non-syndromic, autosomal recessive, 27" 2005-02-23 2015-08-18 2015-08-18 2023-03-15 55180 ENSG00000140471 OTTHUMG00000149865 AK095448 NM_018148 CCDS10385 Q8NG48 "12119551|8889548|28181389" MGI:1919885 RGD:1308792 610350 357802 HGNC:30922 "ENST00000314742.13|NM_001040616.3" HGNC:30922 -HGNC:6617 LIPA lipase A, lysosomal acid type protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "LAL|CESD" "Wolman disease|lysosomal acid lipase|sterol esterase" lipase A, lysosomal acid, cholesterol esterase Lipases 464 1986-01-01 2016-02-12 2023-01-20 3988 ENSG00000107798 OTTHUMG00000018716 uc001kga.6 M74775 NM_000235 "CCDS73160|CCDS7401" P38571 8432549 MGI:96789 RGD:3008 613497 123063 S33.017 3.1.1.13 HGNC:6617 "ENST00000336233.10|NM_000235.4" HGNC:6617 +HGNC:6617 LIPA lipase A, lysosomal acid type protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "LAL|CESD" "Wolman disease|lysosomal acid lipase|sterol esterase" lipase A, lysosomal acid, cholesterol esterase Lipases 464 1986-01-01 2016-02-12 2023-01-20 3988 ENSG00000107798 OTTHUMG00000018716 uc001kga.6 M74775 NM_000235 "CCDS7401|CCDS73160" P38571 8432549 MGI:96789 RGD:3008 613497 123063 S33.017 3.1.1.13 HGNC:6617 "ENST00000336233.10|NM_000235.4" HGNC:6617 HGNC:6618 LIPB lipase B, lysosomal acid type other unknown Approved 16 16 2001-06-22 2016-02-12 2019-06-26 3989 6937431 247980 3.1.1.3 HGNC:6619 LIPC lipase C, hepatic type protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "HL|HTGL" Triacylglycerol lipase lipase, hepatic Lipases 464 2001-06-22 2016-02-12 2023-01-20 3990 ENSG00000166035 OTTHUMG00000132632 uc010bga.3 NM_000236 CCDS10166 P11150 MGI:96216 RGD:3009 151670 159980 3.1.1.3 HGNC:6619 "ENST00000299022.10|NM_000236.3" HGNC:6619 HGNC:52294 LIPC-AS1 LIPC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.3 15q21.3 Antisense RNAs 1987 2016-05-25 2016-05-25 101928694 ENSG00000259293 OTTHUMG00000171977 NR_120338 HGNC:52294 HGNC:6621 LIPE lipase E, hormone sensitive type protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HSL lipase, hormone-sensitive Lipases 464 1989-02-23 2016-02-12 2023-01-20 3991 ENSG00000079435 OTTHUMG00000182814 uc002otr.4 L11706 NM_005357 CCDS12607 Q05469 8506334 MGI:96790 RGD:3010 151750 444104 S09.993 objectId:2593 3.1.1.79 HGNC:6621 "ENST00000244289.9|NM_005357.4" HGNC:6621 HGNC:48589 LIPE-AS1 LIPE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 Antisense RNAs 1987 2013-05-21 2021-07-20 100996307 ENSG00000213904 OTTHUMG00000182815 "AK096849|BM974950" NR_073179 33898314 LIPE-AS1 HGNC:48589 -HGNC:6622 LIPF lipase F, gastric type protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "HGL|HLAL" gastric triacylglycerol lipase lipase, gastric Lipases 464 1998-10-14 2016-02-12 2023-01-20 8513 ENSG00000182333 OTTHUMG00000018695 uc001kfg.3 X05997 NM_001198828 "CCDS65896|CCDS7389|CCDS55719|CCDS55718" P07098 "3304425|9186906" MGI:1914967 RGD:708441 601980 S33.018 objectId:2626 3.1.1.3 HGNC:6622 "ENST00000238983.9|NM_004190.4" -HGNC:6623 LIPG lipase G, endothelial type protein-coding gene gene with protein product Approved 18q21.1 18q21.1 EDL lipase, endothelial Lipases 464 1999-06-18 2016-02-12 2023-01-20 9388 ENSG00000101670 OTTHUMG00000179658 uc002ldv.4 AF118767 NM_006033 "CCDS77187|CCDS11938" Q9Y5X9 "10318835|10192396" MGI:1341803 RGD:1310740 603684 objectId:2591 HGNC:6623 "ENST00000261292.9|NM_006033.4" +HGNC:6622 LIPF lipase F, gastric type protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "HGL|HLAL" gastric triacylglycerol lipase lipase, gastric Lipases 464 1998-10-14 2016-02-12 2023-01-20 8513 ENSG00000182333 OTTHUMG00000018695 uc001kfg.3 X05997 NM_001198828 "CCDS65896|CCDS55718|CCDS7389|CCDS55719" P07098 "3304425|9186906" MGI:1914967 RGD:708441 601980 S33.018 objectId:2626 3.1.1.3 HGNC:6622 "ENST00000238983.9|NM_004190.4" +HGNC:6623 LIPG lipase G, endothelial type protein-coding gene gene with protein product Approved 18q21.1 18q21.1 EDL lipase, endothelial Lipases 464 1999-06-18 2016-02-12 2023-01-20 9388 ENSG00000101670 OTTHUMG00000179658 uc002ldv.4 AF118767 NM_006033 "CCDS11938|CCDS77187" Q9Y5X9 "10318835|10192396" MGI:1341803 RGD:1310740 603684 objectId:2591 HGNC:6623 "ENST00000261292.9|NM_006033.4" HGNC:18483 LIPH lipase H protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "mPA-PLA1|PLA1B|mPA-PLA1alpha|LPDLR" phospholipase A(1) lipase, member H Lipases 464 2002-11-28 2016-01-29 2023-01-20 200879 ENSG00000163898 OTTHUMG00000156657 uc003fpm.4 AY093498 NM_139248 CCDS3272 Q8WWY8 "12213196|12063250" MGI:2388029 RGD:1592849 607365 159333 3.1.1.32 HGNC:18483 "ENST00000296252.9|NM_139248.3" HGNC:18483 -HGNC:18821 LIPI lipase I protein-coding gene gene with protein product Approved 21q11.2 21q11.2 "PRED5|LPDL|CT17|mPA-PLA1beta|PLA1C" "membrane-associated phospholipase A1 beta|cancer/testis antigen 17" lipase, member I Lipases 464 2002-07-01 2016-01-29 2023-03-15 149998 ENSG00000188992 OTTHUMG00000074258 uc061zbf.1 BC028732 NM_198996 "CCDS93079|CCDS93078|CCDS93076|CCDS93077|CCDS93081|CCDS93080" Q6XZB0 12719377 MGI:2443868 RGD:1310162 609252 123067 3.1.1.32 HGNC:18821 "ENST00000681601.1|NM_001302998.2" HGNC:18821 +HGNC:18821 LIPI lipase I protein-coding gene gene with protein product Approved 21q11.2 21q11.2 "PRED5|LPDL|CT17|mPA-PLA1beta|PLA1C" "membrane-associated phospholipase A1 beta|cancer/testis antigen 17" lipase, member I Lipases 464 2002-07-01 2016-01-29 2023-03-15 149998 ENSG00000188992 OTTHUMG00000074258 uc061zbf.1 BC028732 NM_198996 "CCDS93077|CCDS93076|CCDS93081|CCDS93078|CCDS93079|CCDS93080" Q6XZB0 12719377 MGI:2443868 RGD:1310162 609252 123067 3.1.1.32 HGNC:18821 "ENST00000681601.1|NM_001302998.2" HGNC:18821 HGNC:21773 LIPJ lipase family member J protein-coding gene gene with protein product Approved 10q23.31 10q23.31 bA425M17.2 LIPL1 lipase-like, ab-hydrolase domain containing 1 Lipases 464 2004-05-27 2007-02-27 2016-01-29 2023-01-20 142910 ENSG00000204022 OTTHUMG00000018691 uc001kff.3 BC031219 NM_001010939 CCDS31240 Q5W064 RGD:2321667 613921 470610 S33.020 HGNC:21773 "ENST00000371939.7|NM_001010939.3" HGNC:23444 LIPK lipase family member K protein-coding gene gene with protein product Approved 10q23.31 10q23.31 bA186O14.2 LIPL2 lipase-like, ab-hydrolase domain containing 2 Lipases 464 2004-06-02 2007-02-27 2016-01-29 2023-01-20 643414 ENSG00000204021 OTTHUMG00000018693 uc010qmv.3 NM_001080518 CCDS44455 Q5VXJ0 MGI:2679259 RGD:1309724 613922 HGNC:23444 "ENST00000404190.3|NM_001080518.2" HGNC:23455 LIPM lipase family member M protein-coding gene gene with protein product Approved 10q23.31 10q23.31 bA304I5.1 LIPL3 lipase-like, ab-hydrolase domain containing 3 Lipases 464 2004-05-27 2007-02-27 2016-01-29 2023-01-20 340654 ENSG00000173239 OTTHUMG00000018698 uc009xtm.2 NM_001128215 CCDS44457 Q5VYY2 MGI:1926003 RGD:1304912 613923 HGNC:23455 "ENST00000404743.9|NM_001128215.1" @@ -17323,10 +17324,10 @@ HGNC:18581 LIX1 limb and CNS expressed 1 protein-coding gene gene with protein p HGNC:52976 LIX1-AS1 LIX1 and RIOK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q15 05q15 Antisense RNAs 1987 2016-12-22 2016-12-22 101926893 ENSG00000251513 OTTHUMG00000162866 XR_007058882 HGNC:52976 HGNC:28715 LIX1L limb and CNS expressed 1 like protein-coding gene gene with protein product Approved 1q21.1 01q21.1 MGC46719 "Lix1 homolog (mouse) like|Lix1 homolog (chicken)-like|Lix1 homolog (chicken) like" 2005-02-02 2015-06-18 2023-01-20 128077 ENSG00000271601 OTTHUMG00000013741 uc001enr.5 AK128733 NM_153713 CCDS72873 Q8IVB5 19710173 MGI:3036267 RGD:1593161 HGNC:28715 "ENST00000604000.4|NM_153713.3" HGNC:41210 LIX1L-AS1 LIX1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.1 01q21.1 Antisense RNAs 1987 2016-12-22 2016-12-22 105371260 ENSG00000234222 OTTHUMG00000042245 NR_147182 HGNC:41210 -HGNC:33718 LKAAEAR1 LKAAEAR motif containing 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 C20orf201 chromosome 20 open reading frame 201 2008-06-11 2014-01-28 2014-01-28 2023-01-20 198437 ENSG00000171695 OTTHUMG00000033021 NM_001007125 "CCDS86972|CCDS33509" Q8TD35 MGI:2685538 RGD:1306208 HGNC:33718 "ENST00000302096.5|NM_001353425.2" +HGNC:33718 LKAAEAR1 LKAAEAR motif containing 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 C20orf201 chromosome 20 open reading frame 201 2008-06-11 2014-01-28 2014-01-28 2023-01-20 198437 ENSG00000171695 OTTHUMG00000033021 NM_001007125 "CCDS33509|CCDS86972" Q8TD35 MGI:2685538 RGD:1306208 HGNC:33718 "ENST00000302096.5|NM_001353425.2" HGNC:21750 LLCFC1 LLLL and CFNLAS motif containing 1 protein-coding gene gene with protein product Approved 7q34 07q34 CTM-1 C7orf34 chromosome 7 open reading frame 34 2003-07-22 2017-07-21 2017-07-21 2023-01-20 135927 ENSG00000165131 OTTHUMG00000152664 uc003wca.3 BC014596 NM_178829 CCDS5876 Q96L11 12477932 MGI:1923856 RGD:1595510 618946 HGNC:21750 "ENST00000409607.5|NM_001382496.1" HGNC:6628 LLGL1 LLGL scribble cell polarity complex component 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "Lgl1|Mgl1" "DLG4|LLGL|HUGL|HUGL-1" "lethal giant larvae homolog 1 (Drosophila)|lethal giant larvae homolog 1, scribble cell polarity complex component" "WD repeat domain containing|Scribble complex" "362|1224" 1995-09-12 2018-11-09 2023-01-20 3996 ENSG00000131899 OTTHUMG00000059396 uc002gsp.4 NM_004140 CCDS32586 Q15334 "7542763|8565641" MGI:102682 RGD:3012 600966 470214 HGNC:6628 "ENST00000316843.9|NM_004140.4" HGNC:6628 -HGNC:6629 LLGL2 LLGL scribble cell polarity complex component 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HGL|Hugl-2" "lethal giant larvae homolog 2 (Drosophila)|lethal giant larvae homolog 2, scribble cell polarity complex component|LLGL2, scribble cell polarity complex component" "WD repeat domain containing|Scribble complex" "362|1224" 1997-01-28 2018-11-09 2023-01-20 3993 ENSG00000073350 OTTHUMG00000179685 uc002joh.4 X87342 NM_004524 "CCDS45776|CCDS11725|CCDS32733" Q6P1M3 22580609 MGI:1918843 RGD:1560307 618483 HGNC:6629 "ENST00000392550.8|NM_001031803.2" +HGNC:6629 LLGL2 LLGL scribble cell polarity complex component 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HGL|Hugl-2" "lethal giant larvae homolog 2 (Drosophila)|lethal giant larvae homolog 2, scribble cell polarity complex component|LLGL2, scribble cell polarity complex component" "WD repeat domain containing|Scribble complex" "362|1224" 1997-01-28 2018-11-09 2023-01-20 3993 ENSG00000073350 OTTHUMG00000179685 uc002joh.4 X87342 NM_004524 "CCDS11725|CCDS45776|CCDS32733" Q6P1M3 22580609 MGI:1918843 RGD:1560307 618483 HGNC:6629 "ENST00000392550.8|NM_001031803.2" HGNC:28229 LLPH LLP homolog, long-term synaptic facilitation factor protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "MGC14817|hLLP" human LAPS18-like protein C12orf31 "chromosome 12 open reading frame 31|LLP homolog, long-term synaptic facilitation (Aplysia)" 2006-01-17 2008-10-02 2018-04-06 2023-01-20 84298 ENSG00000139233 OTTHUMG00000168959 uc010ssw.3 AK057947 NM_032338 CCDS8974 Q9BRT6 26961175 MGI:1913475 RGD:1308261 616998 HGNC:28229 "ENST00000266604.7|NM_032338.4" HGNC:50493 LLPH-DT LLPH divergent transcript non-coding RNA RNA, long non-coding Approved 12q14.3 12q14.3 LLPH-AS1 LLPH antisense RNA 1 (head to head) Divergent transcripts 1990 2014-07-28 2018-03-23 2018-03-23 2018-03-23 103625681 ENSG00000239335 OTTHUMG00000168960 DA010836 NR_125724 LLPH-AS1 HGNC:50493 HGNC:50491 LLPHP1 LLPH pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 "LLP homolog, long-term synaptic facilitation (Aplysia) pseudogene 1|LLP homolog, long-term synaptic facilitation pseudogene 1" 2014-05-09 2020-01-08 2020-01-08 106480685 ENSG00000270793 OTTHUMG00000184891 NG_043290 PGOHUM00000247607 HGNC:50491 @@ -17337,28 +17338,28 @@ HGNC:6632 LMAN1L lectin, mannose binding 1 like protein-coding gene gene with pr HGNC:16986 LMAN2 lectin, mannose binding 2 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "GP36B|VIP36" C5orf8 "chromosome 5 open reading frame 8|lectin, mannose-binding 2" 2001-10-18 2003-07-04 2016-01-22 2023-01-20 10960 ENSG00000169223 OTTHUMG00000130860 uc003mge.4 U10362 NM_006816 CCDS4417 Q12907 12609988 MGI:1914140 RGD:1308965 609551 HGNC:16986 "ENST00000303127.12|NM_006816.3" HGNC:19263 LMAN2L lectin, mannose binding 2 like protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "DKFZp564L2423|VIPL" VIP36-like lectin, mannose-binding 2-like 2003-07-01 2016-01-22 2023-01-20 81562 ENSG00000114988 OTTHUMG00000130453 uc002swu.4 AL136617 NM_030805 "CCDS46365|CCDS2023" Q9H0V9 12609988 MGI:2443010 RGD:1311393 609552 456803 HGNC:19263 "ENST00000264963.9|NM_030805.4" HGNC:19263 HGNC:13243 LMBR1 limb development membrane protein 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "ACHP|FLJ11665|ZRS" C7orf2 "chromosome 7 open reading frame 2|limb region 1 homolog (mouse)" 2000-12-20 2005-07-25 2013-08-05 2023-03-15 64327 ENSG00000105983 OTTHUMG00000151510 uc003wmw.5 AF107454 NM_022458 CCDS5945 Q8WVP7 "10329000|11090342" MGI:1861746 RGD:1563910 605522 123085 HGNC:13243 "ENST00000353442.10|NM_022458.4" HGNC:13243 -HGNC:18268 LMBR1L limb development membrane protein 1 like protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "FLJ10494|KIAA1174" "limb region 1 homolog (mouse)-like|limb development membrane protein 1-like" 2005-07-25 2016-03-10 2023-01-20 55716 ENSG00000139636 OTTHUMG00000150511 uc001rth.5 AB033000 NM_018113 "CCDS8780|CCDS73466" Q6UX01 "10574461|11287427" MGI:1289247 RGD:1309631 610007 HGNC:18268 "ENST00000267102.13|NM_018113.4" +HGNC:18268 LMBR1L limb development membrane protein 1 like protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "FLJ10494|KIAA1174" "limb region 1 homolog (mouse)-like|limb development membrane protein 1-like" 2005-07-25 2016-03-10 2023-01-20 55716 ENSG00000139636 OTTHUMG00000150511 uc001rth.5 AB033000 NM_018113 "CCDS73466|CCDS8780" Q6UX01 "10574461|11287427" MGI:1289247 RGD:1309631 610007 HGNC:18268 "ENST00000267102.13|NM_018113.4" HGNC:23038 LMBRD1 LMBR1 domain containing 1 protein-coding gene gene with protein product Approved 6q13 06q13 "FLJ11240|bA810I22.1|cblF" C6orf209 chromosome 6 open reading frame 209 2003-11-26 2005-07-25 2005-07-25 2023-01-20 55788 ENSG00000168216 OTTHUMG00000014985 uc003pfa.4 AF113224 NM_018368 "CCDS4969|CCDS87415" Q9NUN5 "19136951|27456980" MGI:1915671 RGD:708471 "LMBRD1 database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=LMBRD1|LRG_1310|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1310.xml" 612625 173562 HGNC:23038 "ENST00000649934.3|NM_018368.4" HGNC:23038 HGNC:25287 LMBRD2 LMBR1 domain containing 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 DKFZp434H2226 MicroRNA protein coding host genes 1691 2005-07-25 2023-01-20 92255 ENSG00000164187 OTTHUMG00000162150 uc003jka.2 NM_001007527 CCDS34145 Q68DH5 MGI:2444173 RGD:1563920 619490 HGNC:25287 "ENST00000296603.5|NM_001007527.2" HGNC:25287 -HGNC:6633 LMCD1 LIM and cysteine rich domains 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 dyxin LIM domain containing 1218 2000-02-29 2016-01-28 2023-01-20 29995 ENSG00000071282 OTTHUMG00000154971 uc010hci.4 AF169284 NM_014583 "CCDS63533|CCDS33688|CCDS63532|CCDS63534" Q9NZU5 10662546 MGI:1353635 RGD:1308963 604859 HGNC:6633 "ENST00000157600.8|NM_014583.4" +HGNC:6633 LMCD1 LIM and cysteine rich domains 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 dyxin LIM domain containing 1218 2000-02-29 2016-01-28 2023-01-20 29995 ENSG00000071282 OTTHUMG00000154971 uc010hci.4 AF169284 NM_014583 "CCDS63533|CCDS33688|CCDS63534|CCDS63532" Q9NZU5 10662546 MGI:1353635 RGD:1308963 604859 HGNC:6633 "ENST00000157600.8|NM_014583.4" HGNC:44477 LMCD1-AS1 LMCD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p26.1 03p26.1 LMCD1 antisense RNA 1 (head to head) Antisense RNAs 1987 2012-11-05 2018-03-23 2019-07-11 100288428 ENSG00000227110 OTTHUMG00000154968 uc062ggg.1 NR_033378 31278071 LMCD1-AS1 HGNC:44477 -HGNC:14154 LMF1 lipase maturation factor 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ12681|JFP11|FLJ22302|TMEM112A" "C16orf26|TMEM112" "chromosome 16 open reading frame 26|transmembrane protein 112" 2000-12-21 2007-11-29 2007-11-29 2023-01-20 64788 ENSG00000103227 OTTHUMG00000047848 uc059otd.1 AK022743 NM_022773 "CCDS86488|CCDS45373" Q96S06 "11157797|17994020" MGI:1923733 RGD:1310180 611761 269953 HGNC:14154 "ENST00000262301.16|NM_022773.4" HGNC:14154 +HGNC:14154 LMF1 lipase maturation factor 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ12681|JFP11|FLJ22302|TMEM112A" "C16orf26|TMEM112" "chromosome 16 open reading frame 26|transmembrane protein 112" 2000-12-21 2007-11-29 2007-11-29 2023-01-20 64788 ENSG00000103227 OTTHUMG00000047848 uc059otd.1 AK022743 NM_022773 "CCDS45373|CCDS86488" Q96S06 "11157797|17994020" MGI:1923733 RGD:1310180 611761 269953 HGNC:14154 "ENST00000262301.16|NM_022773.4" HGNC:14154 HGNC:50469 LMF1-AS1 LMF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2014-04-30 2014-04-30 101929387 ENSG00000260439 OTTHUMG00000172821 NR_110945 LMF1-AS1 HGNC:50469 HGNC:25096 LMF2 lipase maturation factor 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "TMEM153|TMEM112B" "transmembrane protein 153|transmembrane protein 112B" 2006-05-19 2007-11-29 2007-11-29 2023-01-20 91289 ENSG00000100258 OTTHUMG00000150206 uc003blp.3 BC002942 NM_033200 "CCDS87035|CCDS14093" Q9BU23 12477932 MGI:2146015 RGD:1306274 HGNC:25096 "ENST00000474879.7|NM_033200.3" HGNC:15991 LMLN leishmanolysin like peptidase protein-coding gene gene with protein product Approved 3q29 03q29 "Gp63|Msp|LMNL1" leishmanolysin-like (metallopeptidase M8 family) 2001-06-28 2016-02-12 2023-01-20 89782 ENSG00000185621 OTTHUMG00000155375 uc011buo.2 AJ312398 NM_033029 Q96KR4 19706689 MGI:2444736 RGD:1311465 609380 M08.003 3.4.24.36 HGNC:15991 "ENST00000420910.7|NM_001136049.3" HGNC:40738 LMLN-AS1 LMLN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 LMLN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873947 ENSG00000232832 OTTHUMG00000155374 uc062shf.1 NR_046669 LMLN-AS1 HGNC:40738 -HGNC:6636 LMNA lamin A/C protein-coding gene gene with protein product Approved 1q22 01q22 "HGPS|MADA" "mandibuloacral dysplasia type A|progerin" "LMN1|CMD1A|LGMD1B|PRO1|LMNL1" "cardiomyopathy, dilated 1A (autosomal dominant)|limb girdle muscular dystrophy 1B (autosomal dominant)|progeria 1 (Hutchinson-Gilford type)|lamin A/C-like 1" Lamins 612 1992-04-09 2023-04-21 4000 ENSG00000160789 OTTHUMG00000013961 uc001fni.4 BC014507 NM_170707 "CCDS1129|CCDS72942|CCDS58038|CCDS1131|CCDS72941" P02545 "8511676|8838815|12702809" MGI:96794 RGD:620456 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/LMNA|UMD Locus Specific Databases|http://www.umd.be/|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LMNA|LRG_254|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_254.xml" LMNA 150330 123090 HGNC:6636 "ENST00000368300.9|NM_170707.4" HGNC:6636 +HGNC:6636 LMNA lamin A/C protein-coding gene gene with protein product Approved 1q22 01q22 "HGPS|MADA" "mandibuloacral dysplasia type A|progerin" "LMN1|CMD1A|LGMD1B|PRO1|LMNL1" "cardiomyopathy, dilated 1A (autosomal dominant)|limb girdle muscular dystrophy 1B (autosomal dominant)|progeria 1 (Hutchinson-Gilford type)|lamin A/C-like 1" Lamins 612 1992-04-09 2023-04-21 4000 ENSG00000160789 OTTHUMG00000013961 uc001fni.4 BC014507 NM_170707 "CCDS1129|CCDS72941|CCDS58038|CCDS1131|CCDS72942" P02545 "8511676|8838815|12702809" MGI:96794 RGD:620456 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/LMNA|UMD Locus Specific Databases|http://www.umd.be/|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LMNA|LRG_254|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_254.xml" LMNA 150330 123090 HGNC:6636 "ENST00000368300.9|NM_170707.4" HGNC:6636 HGNC:6637 LMNB1 lamin B1 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 Lamins 612 1995-03-28 2023-01-20 4001 ENSG00000113368 OTTHUMG00000128969 uc003kud.3 L37737 NM_005573 CCDS4140 P20700 "7557986|8838815" MGI:96795 RGD:620522 150340 123095 HGNC:6637 "ENST00000261366.10|NM_005573.4" HGNC:6637 HGNC:53089 LMNB1-DT LMNB1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Divergent transcripts 1990 2017-08-03 2017-08-03 102723557 ENSG00000251072 OTTHUMG00000163029 NR_134485 HGNC:53089 HGNC:6638 LMNB2 lamin B2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 LMN2 "Lamins|MicroRNA protein coding host genes" "612|1691" 1992-04-09 2023-01-20 84823 ENSG00000176619 OTTHUMG00000150626 uc002lvy.5 M94362 NM_032737 CCDS12090 Q03252 "1630457|16826530" MGI:96796 RGD:1563803 150341 221339 HGNC:6638 "ENST00000325327.4|NM_032737.4" HGNC:6638 -HGNC:26683 LMNTD1 lamin tail domain containing 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "FLJ36004|Pas1c1" IFLTD1 intermediate filament tail domain containing 1 2006-12-04 2014-05-29 2014-05-29 2023-01-20 160492 ENSG00000152936 OTTHUMG00000169052 AK093323 NM_152590 "CCDS44849|CCDS8704|CCDS44848|CCDS44847|CCDS58218" Q8N9Z9 12477932 MGI:1921321 RGD:1560077 617254 HGNC:26683 "ENST00000458174.7|NM_001145728.2" +HGNC:26683 LMNTD1 lamin tail domain containing 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "FLJ36004|Pas1c1" IFLTD1 intermediate filament tail domain containing 1 2006-12-04 2014-05-29 2014-05-29 2023-01-20 160492 ENSG00000152936 OTTHUMG00000169052 AK093323 NM_152590 "CCDS58218|CCDS44848|CCDS8704|CCDS44847|CCDS44849" Q8N9Z9 12477932 MGI:1921321 RGD:1560077 617254 HGNC:26683 "ENST00000458174.7|NM_001145728.2" HGNC:28561 LMNTD2 lamin tail domain containing 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 MGC35138 C11orf35 chromosome 11 open reading frame 35 2005-05-13 2014-05-29 2014-05-29 2023-01-20 256329 ENSG00000185522 OTTHUMG00000132005 NM_173573 CCDS7701 Q8IXW0 12477932 MGI:1919250 RGD:1307439 HGNC:28561 "ENST00000329451.8|NM_173573.3" HGNC:41204 LMNTD2-AS1 LMNTD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Antisense RNAs 1987 2019-07-24 2019-07-24 692247 ENSG00000254815 OTTHUMG00000165116 NR_147608 HGNC:41204 HGNC:6641 LMO1 LIM domain only 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "TTG1|RHOM1" RBTN1 rhombotin 1 LIM domain containing 1218 1990-09-10 2015-11-23 2023-01-20 4004 ENSG00000166407 OTTHUMG00000165833 uc001mgg.3 M26682 NM_002315 "CCDS58118|CCDS44534" P25800 "2034676|1703797" MGI:102812 RGD:621166 LRG_508|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_508.xml LMO1 186921 457735 HGNC:6641 "ENST00000335790.8|NM_002315.3" -HGNC:6642 LMO2 LIM domain only 2 protein-coding gene gene with protein product Approved 11p13 11p13 "TTG2|RHOM2|RBTN2" "T-cell translocation gene 2|rhombotin-like 1" RBTNL1 rhombotin-like 1 LIM domain containing 1218 1991-08-21 2015-11-23 2023-01-20 4005 ENSG00000135363 OTTHUMG00000157176 uc001mve.5 X61118 NM_005574 "CCDS44567|CCDS7888" P25791 2034676 MGI:102811 RGD:1307101 LMO2 180385 HGNC:6642 "ENST00000257818.3|NM_005574.4" -HGNC:6643 LMO3 LIM domain only 3 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "Rhom-3|DAT1" dopamine associated transcription factor-1 RBTNL2 rhombotin-like 2 LIM domain containing 1218 1991-07-11 2015-11-23 2023-01-20 55885 ENSG00000048540 OTTHUMG00000168837 uc058lqc.1 BC026311 NM_018640 "CCDS58212|CCDS8678|CCDS58211|CCDS58210" Q8TAP4 11489251 MGI:102810 RGD:1561357 180386 HGNC:6643 "ENST00000537304.6|NM_018640.5" +HGNC:6642 LMO2 LIM domain only 2 protein-coding gene gene with protein product Approved 11p13 11p13 "TTG2|RHOM2|RBTN2" "T-cell translocation gene 2|rhombotin-like 1" RBTNL1 rhombotin-like 1 LIM domain containing 1218 1991-08-21 2015-11-23 2023-01-20 4005 ENSG00000135363 OTTHUMG00000157176 uc001mve.5 X61118 NM_005574 "CCDS7888|CCDS44567" P25791 2034676 MGI:102811 RGD:1307101 LMO2 180385 HGNC:6642 "ENST00000257818.3|NM_005574.4" +HGNC:6643 LMO3 LIM domain only 3 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "Rhom-3|DAT1" dopamine associated transcription factor-1 RBTNL2 rhombotin-like 2 LIM domain containing 1218 1991-07-11 2015-11-23 2023-01-20 55885 ENSG00000048540 OTTHUMG00000168837 uc058lqc.1 BC026311 NM_018640 "CCDS58211|CCDS58212|CCDS58210|CCDS8678" Q8TAP4 11489251 MGI:102810 RGD:1561357 180386 HGNC:6643 "ENST00000537304.6|NM_018640.5" HGNC:6644 LMO4 LIM domain only 4 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 LIM domain containing 1218 1998-10-30 2023-01-20 8543 ENSG00000143013 OTTHUMG00000010248 uc001dmi.4 U24576 NM_006769 CCDS713 P61968 MGI:109360 RGD:1305670 603129 HGNC:6644 "ENST00000370544.10|NM_006769.4" -HGNC:6646 LMO7 LIM domain 7 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 "FBX20|KIAA0858" F-box only protein 20 FBXO20 LIM domain only 7 "LIM domain containing|PDZ domain containing" "1218|1220" 1997-05-15 2004-06-15 2023-01-20 4008 ENSG00000136153 OTTHUMG00000017093 uc010thv.4 AF092557 NM_005358 "CCDS53876|CCDS81773|CCDS9454|CCDS81774" Q8WWI1 "9826547|10531035" MGI:1353586 RGD:1302984 604362 HGNC:6646 "ENST00000377534.8|NM_001306080.2" +HGNC:6646 LMO7 LIM domain 7 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 "FBX20|KIAA0858" F-box only protein 20 FBXO20 LIM domain only 7 "LIM domain containing|PDZ domain containing" "1218|1220" 1997-05-15 2004-06-15 2023-01-20 4008 ENSG00000136153 OTTHUMG00000017093 uc010thv.4 AF092557 NM_005358 "CCDS81773|CCDS81774|CCDS9454|CCDS53876" Q8WWI1 "9826547|10531035" MGI:1353586 RGD:1302984 604362 HGNC:6646 "ENST00000377534.8|NM_001306080.2" HGNC:50277 LMO7-AS1 LMO7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q22.2 13q22.2 UCHL3-AS1 UCHL3 antisense RNA 1 Antisense RNAs 1987 2014-03-25 2020-11-11 101927155 ENSG00000261105 OTTHUMG00000172803 AW188034 NR_120410 LMO7-AS1 HGNC:50277 HGNC:44370 LMO7DN LMO7 downstream neighbor non-coding RNA RNA, long non-coding Approved 13q22.2 13q22.2 C13orf45 chromosome 13 open reading frame 45 Long non-coding RNAs with non-systematic symbols 1992 2012-09-13 2014-03-25 2014-03-25 2023-03-15 729420 ENSG00000178734 OTTHUMG00000187426 AK092698 NR_164111 F2Z398 HGNC:44370 HGNC:49790 LMO7DN-IT1 LMO7DN intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q22.2 13q22.2 TCONS_00021569 C13orf45-IT1 C13orf45 intronic transcript 1 Intronic transcripts 1989 2014-02-14 2014-03-25 2014-03-25 2018-03-28 104326189 ENSG00000223458 OTTHUMG00000017094 AI825938 NR_126373 LMO7DN-IT1 HGNC:49790 @@ -17370,7 +17371,7 @@ HGNC:19295 LMTK3 lemur tyrosine kinase 3 protein-coding gene gene with protein p HGNC:6653 LMX1A LIM homeobox transcription factor 1 alpha protein-coding gene gene with protein product Approved 1q23.3 01q23.3 LMX1.1 LMX1 LIM homeobox transcription factor 1, alpha LIM class homeoboxes 522 1994-09-07 2016-02-23 2023-03-15 4009 ENSG00000162761 OTTHUMG00000034575 uc021pdz.1 AY078391 NM_177398 CCDS1247 Q8TE12 7698771 MGI:1888519 RGD:1304784 600298 8460 HGNC:6653 "ENST00000342310.7|NM_177398.4" HGNC:6653 HGNC:40344 LMX1A-AS1 LMX1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Antisense RNAs 1987 2019-08-16 2019-08-16 102725140 ENSG00000238022 OTTHUMG00000040115 NR_183535 HGNC:40344 HGNC:40343 LMX1A-AS2 LMX1A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Antisense RNAs 1987 2019-08-16 2019-08-16 105371561 ENSG00000224702 OTTHUMG00000040114 XR_001738275 HGNC:40343 -HGNC:6654 LMX1B LIM homeobox transcription factor 1 beta protein-coding gene gene with protein product Approved 9q33.3 09q33.3 NPS1 LIM homeobox transcription factor 1, beta LIM class homeoboxes 522 1998-02-11 2016-02-23 2023-01-20 4010 ENSG00000136944 OTTHUMG00000020692 uc004bqj.3 U77457 NM_001174146 "CCDS6866|CCDS55343|CCDS55342" O60663 "9441763|9590287" MGI:1100513 RGD:620843 LRG_1014|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1014.xml 602575 8461 123102 HGNC:6654 "ENST00000373474.9|NM_001174147.2" HGNC:6654 +HGNC:6654 LMX1B LIM homeobox transcription factor 1 beta protein-coding gene gene with protein product Approved 9q33.3 09q33.3 NPS1 LIM homeobox transcription factor 1, beta LIM class homeoboxes 522 1998-02-11 2016-02-23 2023-01-20 4010 ENSG00000136944 OTTHUMG00000020692 uc004bqj.3 U77457 NM_001174146 "CCDS55343|CCDS6866|CCDS55342" O60663 "9441763|9590287" MGI:1100513 RGD:620843 LRG_1014|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1014.xml 602575 8461 123102 HGNC:6654 "ENST00000373474.9|NM_001174147.2" HGNC:6654 HGNC:55849 LMX1B-DT LMX1B divergent transcript non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 Divergent transcripts 1990 2021-09-01 2021-09-01 105376277 ENSG00000224842 NR_184146 HGNC:54418 LNC-LBCS lncRNA bladder and prostate cancer suppressor, hnRNPK interacting non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 LBCS low expressed in bladder cancer stem cells Long non-coding RNAs with non-systematic symbols 1992 2019-08-09 2019-08-09 100506885 ENSG00000228412 NR_134649 "30397178|31221168" HGNC:56708 LNC-RHL1 lncRNA regulator of hepatic lineages 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 lnc-RHL Long non-coding RNAs with non-systematic symbols 1992 2023-03-07 2023-03-08 124902762 ENSG00000236267 XR_007062898 33393114 @@ -17394,34 +17395,34 @@ HGNC:52548 LNCTAM34A long non coding transcriptional activator of miR34a non-cod HGNC:56660 LNCTSI lncRNA TGF-beta/SMAD3 pathway interacting non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 lnc-TSI Long non-coding RNAs with non-systematic symbols 1992 2022-12-07 2022-12-07 2022-12-07 128193292 ENSG00000230479 "30305452|36273649" HGNC:56001 LNMICC lncRNA associated with lymph node metastasis in cervical cancer non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 Long non-coding RNAs with non-systematic symbols 1992 2021-11-25 2021-11-25 123706532 ENSG00000254027 29229603 HGNC:28014 LNP1 leukemia NUP98 fusion partner 1 protein-coding gene gene with protein product Approved 3q12.2 03q12.2 NP3 2005-12-20 2023-01-20 348801 ENSG00000206535 OTTHUMG00000159082 uc003dtx.5 NM_001085451 CCDS43120 A1A4G5 16467868 MGI:5011982 RGD:2323126 HGNC:28014 "ENST00000383693.8|NM_001085451.2" -HGNC:6656 LNPEP leucyl and cystinyl aminopeptidase protein-coding gene gene with protein product Approved 5q15 05q15 "CAP|PLAP|P-LAP|IRAP" "cystinyl aminopeptidase|placental leucine aminopeptidase" leucyl/cystinyl aminopeptidase "Aminopeptidases|M1 metallopeptidases" "104|1437" 1997-07-11 2016-07-11 2023-01-20 4012 ENSG00000113441 OTTHUMG00000128719 uc003kmv.2 D50810 NM_005575 "CCDS43346|CCDS4087" Q9UIQ6 8550619 MGI:2387123 RGD:621752 151300 M01.011 objectId:1570 3.4.11.3 HGNC:6656 "ENST00000231368.10|NM_005575.3" -HGNC:21610 LNPK lunapark, ER junction formation factor protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "Ul|LNP1|LNP" limb and neural patterns KIAA1715 KIAA1715 2003-11-26 2016-07-07 2016-07-07 2023-01-20 80856 ENSG00000144320 OTTHUMG00000154112 uc002ukc.2 AB051502 NM_030650 "CCDS33332|CCDS77488|CCDS77489" Q9C0E8 "11214970|12732147|22729086|25548161" MGI:1918115 RGD:1312042 610236 HGNC:21610 "ENST00000272748.9|NM_030650.3" HGNC:21610 +HGNC:6656 LNPEP leucyl and cystinyl aminopeptidase protein-coding gene gene with protein product Approved 5q15 05q15 "CAP|PLAP|P-LAP|IRAP" "cystinyl aminopeptidase|placental leucine aminopeptidase" leucyl/cystinyl aminopeptidase "Aminopeptidases|M1 metallopeptidases" "104|1437" 1997-07-11 2016-07-11 2023-01-20 4012 ENSG00000113441 OTTHUMG00000128719 uc003kmv.2 D50810 NM_005575 "CCDS4087|CCDS43346" Q9UIQ6 8550619 MGI:2387123 RGD:621752 151300 M01.011 objectId:1570 3.4.11.3 HGNC:6656 "ENST00000231368.10|NM_005575.3" +HGNC:21610 LNPK lunapark, ER junction formation factor protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "Ul|LNP1|LNP" limb and neural patterns KIAA1715 KIAA1715 2003-11-26 2016-07-07 2016-07-07 2023-01-20 80856 ENSG00000144320 OTTHUMG00000154112 uc002ukc.2 AB051502 NM_030650 "CCDS33332|CCDS77489|CCDS77488" Q9C0E8 "11214970|12732147|22729086|25548161" MGI:1918115 RGD:1312042 610236 HGNC:21610 "ENST00000272748.9|NM_030650.3" HGNC:21610 HGNC:51665 LNPPS lncRNA PDCD5 and p53 scaffold non-coding RNA RNA, long non-coding Approved 5q32 05q32 a lncRNA for programmed cell death 5 (PDCD5) and p53 stability Long non-coding RNAs with non-systematic symbols 1992 2023-01-19 2023-01-19 128385374 ENSG00000275871 OTTHUMG00000187188 36578176 HGNC:55512 LNROP long non-coding regulator of POU2F2 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 POU2F2-AS1 POU2F2 antisense RNA 1 "Antisense RNAs|Long non-coding RNAs with non-systematic symbols" "1987|1992" 2021-03-17 2023-03-01 2023-03-01 2023-03-01 100505622 ENSG00000254887 NR_038332 36849510 -HGNC:6657 LNX1 ligand of numb-protein X 1 protein-coding gene gene with protein product Approved 4q12 04q12 "MPDZ|PDZRN2" LNX "ligand of numb-protein X|ligand of numb-protein X 1, E3 ubiquitin protein ligase" "Ring finger proteins|PDZ domain containing" "58|1220" 2000-05-31 2005-11-04 2016-04-05 2023-01-20 84708 ENSG00000072201 OTTHUMG00000102099 uc003hag.6 AF237782 NM_001126328 "CCDS47057|CCDS3492" Q8TBB1 "11521506|11782429" MGI:1278335 RGD:1308159 609732 HGNC:6657 "ENST00000263925.8|NM_001126328.3" +HGNC:6657 LNX1 ligand of numb-protein X 1 protein-coding gene gene with protein product Approved 4q12 04q12 "MPDZ|PDZRN2" LNX "ligand of numb-protein X|ligand of numb-protein X 1, E3 ubiquitin protein ligase" "Ring finger proteins|PDZ domain containing" "58|1220" 2000-05-31 2005-11-04 2016-04-05 2023-01-20 84708 ENSG00000072201 OTTHUMG00000102099 uc003hag.6 AF237782 NM_001126328 "CCDS3492|CCDS47057" Q8TBB1 "11521506|11782429" MGI:1278335 RGD:1308159 609732 HGNC:6657 "ENST00000263925.8|NM_001126328.3" HGNC:40345 LNX1-AS1 LNX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q12 04q12 LNX1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 100873939 ENSG00000250930 OTTHUMG00000160644 uc062wpx.1 NR_046622 LNX1-AS1 HGNC:40345 HGNC:41450 LNX1-AS2 LNX1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 4q12 04q12 LNX1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 100873955 ENSG00000248494 OTTHUMG00000160646 uc031seg.2 NR_046827 LNX1-AS2 HGNC:41450 HGNC:20421 LNX2 ligand of numb-protein X 2 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 MGC46315 PDZRN1 PDZ domain containing ring finger 1 "Ring finger proteins|PDZ domain containing" "58|1220" 2003-02-06 2004-01-23 2004-01-22 2023-01-20 222484 ENSG00000139517 OTTHUMG00000016634 uc001url.5 AL138699 NM_153371 Q8N448 MGI:2155959 RGD:1308222 609733 HGNC:20421 "ENST00000316334.5|NM_153371.4" HGNC:6661 LOH1CR1 loss of heterozygosity on chromosome 1, region 1 other region Approved 1p36.13 01p36.13 1p36 chordoma associated LOH loss of heterozygosity, 1, chromosomal region 1 1998-09-03 2019-10-09 2019-10-09 8377 14506752 HGNC:26524 LOH12CR2 loss of heterozygosity on chromosome 12, region 2 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 LOH2CR12 loss of heterozygosity, 12, chromosomal region 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2005-03-01 2019-10-09 2019-10-09 503693 ENSG00000205791 OTTHUMG00000187482 uc001rak.4 AY037867 NR_024061 "11896457|15284860" LOH12CR2 HGNC:26524 -HGNC:9479 LONP1 lon peptidase 1, mitochondrial protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "LonHS|hLON|PIM1" Mitochondrial ATP-dependent protease Lon PRSS15 protease, serine, 15 "AAA ATPases|Serine proteases" "413|738" 1999-09-17 2006-10-20 2006-10-20 2023-01-20 9361 ENSG00000196365 OTTHUMG00000180504 uc002mcx.5 U02389 NM_004793 "CCDS12148|CCDS62507|CCDS62508" P36776 "8248235|8119403" MGI:1921392 RGD:621598 605490 420818 S16.002 objectId:3180 3.4.21.53 HGNC:9479 "ENST00000360614.8|NM_004793.4" HGNC:9479 +HGNC:9479 LONP1 lon peptidase 1, mitochondrial protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "LonHS|hLON|PIM1" Mitochondrial ATP-dependent protease Lon PRSS15 protease, serine, 15 "AAA ATPases|Serine proteases" "413|738" 1999-09-17 2006-10-20 2006-10-20 2023-01-20 9361 ENSG00000196365 OTTHUMG00000180504 uc002mcx.5 U02389 NM_004793 "CCDS62508|CCDS62507|CCDS12148" P36776 "8248235|8119403" MGI:1921392 RGD:621598 605490 420818 S16.002 objectId:3180 3.4.21.53 HGNC:9479 "ENST00000360614.8|NM_004793.4" HGNC:9479 HGNC:20598 LONP2 lon peptidase 2, peroxisomal protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "MGC4840|LONP|LONPL" AAA ATPases 413 2006-10-20 2023-01-20 83752 ENSG00000102910 OTTHUMG00000133144 uc002efi.2 AJ548761 NM_031490 "CCDS73880|CCDS10734" Q86WA8 14561759 MGI:1914137 RGD:1305466 617774 S16.006 HGNC:20598 "ENST00000285737.9|NM_031490.5" HGNC:26302 LONRF1 LON peptidase N-terminal domain and ring finger 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "FLJ23749|RNF191" "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2005-08-19 2023-01-20 91694 ENSG00000154359 OTTHUMG00000165475 uc003wwd.2 AK074329 NM_152271 CCDS5987 Q17RB8 18253036 MGI:3609241 RGD:1562583 HGNC:26302 "ENST00000398246.8|NM_152271.5" -HGNC:24788 LONRF2 LON peptidase N-terminal domain and ring finger 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "FLJ45273|RNF192" Ring finger proteins 58 2005-08-19 2023-01-20 164832 ENSG00000170500 OTTHUMG00000130668 uc002tal.4 AK127206 NM_198461 "CCDS2046|CCDS92818" Q1L5Z9 MGI:1920209 RGD:1562137 HGNC:24788 "ENST00000393437.8|NM_198461.4" +HGNC:24788 LONRF2 LON peptidase N-terminal domain and ring finger 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "FLJ45273|RNF192" Ring finger proteins 58 2005-08-19 2023-01-20 164832 ENSG00000170500 OTTHUMG00000130668 uc002tal.4 AK127206 NM_198461 "CCDS92818|CCDS2046" Q1L5Z9 MGI:1920209 RGD:1562137 HGNC:24788 "ENST00000393437.8|NM_198461.4" HGNC:39828 LONRF2P1 LONRF2 pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 LON peptidase N-terminal domain and ring finger 2 pseudogene 1 2011-03-30 2019-08-28 2019-08-28 100421827 ENSG00000266605 OTTHUMG00000178699 NG_026274 PGOHUM00000294608 HGNC:39828 HGNC:39829 LONRF2P2 LONRF2 pseudogene 2 pseudogene pseudogene Approved 13q11 13q11 LON peptidase N-terminal domain and ring finger 2 pseudogene 2 2011-03-30 2019-08-28 2019-08-28 100421799 ENSG00000233905 OTTHUMG00000016457 NG_024885 PGOHUM00000248498 HGNC:39829 HGNC:54499 LONRF2P3 LONRF2 pseudogene 3 pseudogene pseudogene Approved 15q11.2 15q11.2 2019-08-28 2019-08-28 100421809 ENSG00000258420 OTTHUMG00000171704 NG_025282 PGOHUM00000292797 HGNC:54499 HGNC:54500 LONRF2P4 LONRF2 pseudogene 4 pseudogene pseudogene Approved 15q11.2 15q11.2 2019-08-28 2019-08-28 100421810 ENSG00000258415 OTTHUMG00000171727 NG_025285 PGOHUM00000292808 HGNC:54500 HGNC:54501 LONRF2P5 LONRF2 pseudogene 5 pseudogene pseudogene Approved 21q11.2 21q11.2 2019-08-28 2019-08-28 115830330 ENSG00000273692 OTTHUMG00000187952 NG_066472 PGOHUM00000297338 -HGNC:21152 LONRF3 LON peptidase N-terminal domain and ring finger 3 protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ22612 RNF127 ring finger protein 127 Ring finger proteins 58 2003-05-21 2005-08-19 2005-08-19 2023-01-20 79836 ENSG00000175556 OTTHUMG00000022262 uc004eqw.5 AK026265 NM_024778 "CCDS76014|CCDS35374|CCDS14575" Q496Y0 MGI:1921615 RGD:1565451 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LONRF3 HGNC:21152 "ENST00000371628.8|NM_001031855.3" +HGNC:21152 LONRF3 LON peptidase N-terminal domain and ring finger 3 protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ22612 RNF127 ring finger protein 127 Ring finger proteins 58 2003-05-21 2005-08-19 2005-08-19 2023-01-20 79836 ENSG00000175556 OTTHUMG00000022262 uc004eqw.5 AK026265 NM_024778 "CCDS14575|CCDS35374|CCDS76014" Q496Y0 MGI:1921615 RGD:1565451 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LONRF3 HGNC:21152 "ENST00000371628.8|NM_001031855.3" HGNC:6663 LORICRIN loricrin cornified envelope precursor protein protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LOR loricrin Cornified envelope precursor family 1352 1992-05-05 2019-10-15 2019-10-15 2023-01-20 4014 ENSG00000203782 OTTHUMG00000013938 uc001fbm.4 M61120 NM_000427 CCDS30870 P23490 "2007607|1355480" MGI:96816 RGD:1559993 152445 123105 HGNC:6663 "ENST00000368742.4|NM_000427.3" HGNC:6663 -HGNC:6664 LOX lysyl oxidase protein-coding gene gene with protein product Approved 5q23.1 05q23.1 protein-lysine 6-oxidase 1986-01-01 2023-01-20 4015 ENSG00000113083 OTTHUMG00000128914 uc003ksu.4 NM_001178102 "CCDS4129|CCDS93767|CCDS93766" P28300 1685472 MGI:96817 RGD:3015 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 153455 466397 objectId:3097 1.4.3.13 HGNC:6664 "ENST00000231004.5|NM_002317.7" HGNC:6664 -HGNC:26521 LOXHD1 lipoxygenase homology PLAT domains 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "FLJ32670|LH2D1" DFNB77 "deafness, autosomal recessive 77|lipoxygenase homology domains 1" 2004-04-30 2021-02-11 2023-01-20 125336 ENSG00000167210 OTTHUMG00000132644 uc010xcw.2 AK057232 NM_144612 "CCDS45861|CCDS77182|CCDS45862|CCDS11929|CCDS92455|CCDS54184" Q8IVV2 19732867 MGI:1914609 RGD:1304815 613072 221356 HGNC:26521 "ENST00000642948.1|NM_001384474.1" HGNC:26521 +HGNC:6664 LOX lysyl oxidase protein-coding gene gene with protein product Approved 5q23.1 05q23.1 protein-lysine 6-oxidase 1986-01-01 2023-01-20 4015 ENSG00000113083 OTTHUMG00000128914 uc003ksu.4 NM_001178102 "CCDS93766|CCDS4129|CCDS93767" P28300 1685472 MGI:96817 RGD:3015 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 153455 466397 objectId:3097 1.4.3.13 HGNC:6664 "ENST00000231004.5|NM_002317.7" HGNC:6664 +HGNC:26521 LOXHD1 lipoxygenase homology PLAT domains 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "FLJ32670|LH2D1" DFNB77 "deafness, autosomal recessive 77|lipoxygenase homology domains 1" 2004-04-30 2021-02-11 2023-01-20 125336 ENSG00000167210 OTTHUMG00000132644 uc010xcw.2 AK057232 NM_144612 "CCDS45862|CCDS92455|CCDS54184|CCDS11929|CCDS77182|CCDS45861" Q8IVV2 19732867 MGI:1914609 RGD:1304815 613072 221356 HGNC:26521 "ENST00000642948.1|NM_001384474.1" HGNC:26521 HGNC:6665 LOXL1 lysyl oxidase like 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "LOXL|LOL" lysyl oxidase-like 1 1993-12-08 2015-11-27 2023-01-20 4016 ENSG00000129038 OTTHUMG00000137595 uc002awc.2 L21186 NM_005576 CCDS10253 Q08397 7689553 MGI:106096 RGD:1308752 153456 470612 HGNC:6665 "ENST00000261921.8|NM_005576.4" HGNC:44169 LOXL1-AS1 LOXL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 LOXL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2019-07-12 100287616 ENSG00000261801 OTTHUMG00000172711 uc059lff.1 AK056885 NR_040066 "29678575|30278884" 616800 LOXL1-AS1 HGNC:44169 HGNC:6666 LOXL2 lysyl oxidase like 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "WS9-14|LOR" lysyl oxidase-like 2 Scavenger receptor cysteine rich domain containing 1404 1997-11-10 2015-11-27 2023-01-20 4017 ENSG00000134013 OTTHUMG00000163797 uc003xdh.2 U89942 NM_002318 CCDS34864 Q9Y4K0 9722957 MGI:2137913 RGD:1308435 606663 470614 objectId:2853 HGNC:6666 "ENST00000389131.8|NM_002318.3" HGNC:56648 LOXL2-AS1 LOXL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 AC090197.1 Antisense RNAs 1987 2022-11-25 2022-11-25 100507156 ENSG00000253837 NR_038323 -HGNC:13869 LOXL3 lysyl oxidase like 3 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 lysyl oxidase-like 3 Scavenger receptor cysteine rich domain containing 1404 2001-06-27 2015-11-27 2023-01-20 84695 ENSG00000115318 OTTHUMG00000129953 uc002smp.3 AF282619 NM_032603 "CCDS74527|CCDS1953" P58215 11386757 MGI:1337004 RGD:1311011 607163 470616 HGNC:13869 "ENST00000264094.8|NM_032603.5" HGNC:13869 +HGNC:13869 LOXL3 lysyl oxidase like 3 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 lysyl oxidase-like 3 Scavenger receptor cysteine rich domain containing 1404 2001-06-27 2015-11-27 2023-01-20 84695 ENSG00000115318 OTTHUMG00000129953 uc002smp.3 AF282619 NM_032603 "CCDS1953|CCDS74527" P58215 11386757 MGI:1337004 RGD:1311011 607163 470616 HGNC:13869 "ENST00000264094.8|NM_032603.5" HGNC:13869 HGNC:17171 LOXL4 lysyl oxidase like 4 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "FLJ21889|LOXC" lysyl oxidase-like 4 Scavenger receptor cysteine rich domain containing 1404 2001-11-14 2015-11-27 2023-01-20 84171 ENSG00000138131 OTTHUMG00000018874 uc001kpa.2 AF338441 NM_032211 CCDS7473 Q96JB6 11292829 MGI:1914823 RGD:1308588 607318 HGNC:17171 "ENST00000260702.4|NM_032211.7" HGNC:6667 LPA lipoprotein(a) protein-coding gene gene with protein product Approved 6q25.3-q26 06q25.3-q26 Lp(a) apolipoprotein(a) LP lipoprotein, Lp(a) 2001-06-22 2016-04-06 2023-01-20 4018 ENSG00000198670 OTTHUMG00000015956 uc063sqy.1 X06290 NM_005577 CCDS43523 P08519 3670400 152200 470618 S01.999 HGNC:6667 "ENST00000316300.10|NM_005577.4" HGNC:6668 LPAL1 lipoprotein(a) like 1 other unknown Approved 6q26-q27 06q26-q27 lipoprotein, Lp(a)-like 1 1994-12-12 2016-06-27 2016-06-27 4019 7679504 @@ -17440,23 +17441,23 @@ HGNC:30059 LPCAT4 lysophosphatidylcholine acyltransferase 4 protein-coding gene HGNC:28985 LPGAT1 lysophosphatidylglycerol acyltransferase 1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "KIAA0205|FAM34A1|NET8|LPLAT7" lysophospholipid acyltransferase 7 FAM34A family with sequence similarity 34, member A 2004-04-05 2004-11-26 2004-11-25 2023-01-20 9926 ENSG00000123684 OTTHUMG00000037120 uc001hiv.3 D86960 NM_014873 CCDS31018 Q92604 "9039502|15485873" MGI:2446186 RGD:1585897 610473 HGNC:28985 "ENST00000366997.9|NM_014873.3" HGNC:41221 LPGAT1-AS1 LPGAT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Antisense RNAs 1987 2018-09-26 2018-09-26 102723727 ENSG00000229258 OTTHUMG00000037122 NR_135818 HGNC:41221 HGNC:31402 LPGAT1P1 lysophosphatidylglycerol acyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 8p12 08p12 "FAM34BP|FAM34A2P" family with sequence similarity 34, member A2 pseudogene 2004-04-05 2004-11-25 2004-11-25 2014-11-19 100129398 NG_022384 HGNC:31402 -HGNC:13345 LPIN1 lipin 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 KIAA0188 phosphatidate phosphatase LPIN1 "Lipins|MicroRNA protein coding host genes" "1043|1691" 2001-01-24 2023-03-15 23175 ENSG00000134324 OTTHUMG00000119082 uc002rbt.5 D80010 NM_145693 "CCDS1682|CCDS92716|CCDS58701|CCDS58699" Q14693 "11138012|8724849|16950137|27344312" MGI:1891340 RGD:1307646 605518 169944 objectId:1435 3.1.3.4 HGNC:13345 "ENST00000674199.1|NM_001349206.2" HGNC:13345 +HGNC:13345 LPIN1 lipin 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 KIAA0188 phosphatidate phosphatase LPIN1 "Lipins|MicroRNA protein coding host genes" "1043|1691" 2001-01-24 2023-03-15 23175 ENSG00000134324 OTTHUMG00000119082 uc002rbt.5 D80010 NM_145693 "CCDS58699|CCDS1682|CCDS58701|CCDS92716" Q14693 "11138012|8724849|16950137|27344312" MGI:1891340 RGD:1307646 605518 169944 objectId:1435 3.1.3.4 HGNC:13345 "ENST00000674199.1|NM_001349206.2" HGNC:13345 HGNC:14450 LPIN2 lipin 2 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 KIAA0249 Lipins 1043 2001-01-24 2023-01-20 9663 ENSG00000101577 OTTHUMG00000131508 uc002klo.3 D87436 NM_014646 CCDS11829 Q92539 "11138012|9039502" MGI:1891341 RGD:1304588 "INFEVERS: The repertory of Familial Mediterranean Fever & Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_174|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_174.xml" 605519 123109 objectId:1436 3.1.3.4 HGNC:14450 "ENST00000677752.1|NM_001375808.2" HGNC:14450 HGNC:14451 LPIN3 lipin 3 protein-coding gene gene with protein product Approved 20q12 20q12 SMP2 LIPN3L lipin 3-like Lipins 1043 2001-01-24 2002-05-23 2023-01-20 64900 ENSG00000132793 OTTHUMG00000033056 uc284pre.1 AL132654 NM_022896 "CCDS33469|CCDS93041" Q9BQK8 11138012 MGI:1891342 RGD:1588534 605520 objectId:1437 3.1.3.4 HGNC:14451 "ENST00000373257.8|NM_022896.3" HGNC:6677 LPL lipoprotein lipase protein-coding gene gene with protein product Approved 8p21.3 08p21.3 LIPD Lipases 464 2001-06-22 2023-01-20 4023 ENSG00000175445 OTTHUMG00000036645 uc003wzk.5 NM_000237 CCDS6012 P06858 "3823907|3597382|3692485" MGI:96820 RGD:3017 LRG_1298|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1298.xml 609708 123112 3.1.1.34 HGNC:6677 "ENST00000650287.1|NM_000237.3" HGNC:6677 -HGNC:6678 LPO lactoperoxidase protein-coding gene gene with protein product Approved 17q22 17q22 SPO 1992-09-23 2023-01-20 4025 ENSG00000167419 OTTHUMG00000178921 uc002ivt.3 M58151 NM_001160102 "CCDS54149|CCDS32689" P22079 "2222811|8964511" MGI:1923363 RGD:1310051 150205 1.11.1.7 HGNC:6678 "ENST00000262290.9|NM_006151.3" +HGNC:6678 LPO lactoperoxidase protein-coding gene gene with protein product Approved 17q22 17q22 SPO 1992-09-23 2023-01-20 4025 ENSG00000167419 OTTHUMG00000178921 uc002ivt.3 M58151 NM_001160102 "CCDS32689|CCDS54149" P22079 "2222811|8964511" MGI:1923363 RGD:1310051 150205 1.11.1.7 HGNC:6678 "ENST00000262290.9|NM_006151.3" HGNC:6679 LPP LIM domain containing preferred translocation partner in lipoma protein-coding gene gene with protein product Approved 3q27.3-q28 03q27.3-q28 lipoma preferred partner gene LIM domain-containing preferred translocation partner in lipoma "Zyxin family|MicroRNA protein coding host genes" "1402|1691" 1996-07-19 2002-01-14 2023-01-20 4026 ENSG00000145012 OTTHUMG00000156387 uc032sne.1 AL833171 NM_005578 CCDS3291 Q93052 8812423 MGI:2441849 RGD:1310535 LPP 600700 HGNC:6679 "ENST00000617246.5|NM_001375462.1" HGNC:40346 LPP-AS1 LPP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 LPP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873917 ENSG00000224563 OTTHUMG00000156388 uc032sng.2 NR_046623 LPP-AS1 HGNC:40346 HGNC:27952 LPP-AS2 LPP antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 "MYCLo-5|MYCLo-6" LPP antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2022-01-10 339929 ENSG00000270959 OTTHUMG00000185119 uc021xip.2 BC042414 NR_036497 25663692 LPP-AS2 HGNC:27952 -HGNC:14061 LPXN leupaxin protein-coding gene gene with protein product Approved 11q12.1 11q12.1 LDPL LIM domain containing 1218 2000-11-28 2023-01-20 9404 ENSG00000110031 OTTHUMG00000167466 uc001nmw.4 AF062075 NM_004811 "CCDS7969|CCDS53635|CCDS76407" O60711 9565592 MGI:2147677 RGD:1304981 605390 HGNC:14061 "ENST00000395074.7|NM_004811.3" +HGNC:14061 LPXN leupaxin protein-coding gene gene with protein product Approved 11q12.1 11q12.1 LDPL LIM domain containing 1218 2000-11-28 2023-01-20 9404 ENSG00000110031 OTTHUMG00000167466 uc001nmw.4 AF062075 NM_004811 "CCDS53635|CCDS76407|CCDS7969" O60711 9565592 MGI:2147677 RGD:1304981 605390 HGNC:14061 "ENST00000395074.7|NM_004811.3" HGNC:6685 LRAT lecithin retinol acyltransferase protein-coding gene gene with protein product Approved 4q32.1 04q32.1 LCA14 phosphatidylcholine--retinol O-acyltransferase lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) LRAT domain containing family 1692 1999-02-16 2017-08-04 2023-01-20 9227 ENSG00000121207 OTTHUMG00000161418 uc063akh.1 AF071510 NM_004744 CCDS3789 O95237 9920938 MGI:1891259 RGD:68362 Mutations of the Lecithin Retinol Acyltransferase Gene|http://www.retina-international.org/files/sci-news/lratmut.htm 604863 168360 2.3.1.135 HGNC:6685 "ENST00000336356.4|NM_004744.5" HGNC:6685 HGNC:20743 LRATD1 LRAT domain containing 1 protein-coding gene gene with protein product Approved 2p24.3 02p24.3 "NSE1|FLJ35392" neurological/sensory 1 FAM84A family with sequence similarity 84 member A LRAT domain containing family 1692 2005-07-28 2019-03-01 2019-03-01 2023-01-20 151354 ENSG00000162981 OTTHUMG00000119093 uc002rbz.3 "AJ417080|BC026346" NM_145175 CCDS1684 Q96KN4 14702039 MGI:2145011 RGD:1305779 611234 HGNC:20743 "ENST00000295092.3|NM_145175.4" HGNC:24166 LRATD2 LRAT domain containing 2 protein-coding gene gene with protein product Approved 8q24.21 08q24.21 "BCMP101|NSE2" "breast cancer membrane-associated protein 101|neurological/sensory 2" FAM84B family with sequence similarity 84 member B LRAT domain containing family 1692 2005-07-28 2019-03-01 2019-03-01 2023-01-20 157638 ENSG00000168672 OTTHUMG00000165034 uc003yrz.3 AJ417849 NM_174911 CCDS6358 Q96KN1 25980316 MGI:3026924 RGD:1562236 609483 HGNC:24166 "ENST00000304916.4|NM_174911.5" -HGNC:1742 LRBA LPS responsive beige-like anchor protein protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "BGL|LAB300|LBA|uc.147" CDC4L LPS-responsive vesicle trafficking, beach and anchor containing "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 1992-02-14 2001-10-05 2016-03-01 2023-06-01 987 ENSG00000198589 OTTHUMG00000161443 uc003ilu.5 AF216648 NM_001199282 "CCDS58928|CCDS93650|CCDS3773|CCDS93649" P50851 "1505956|11254716" MGI:1933162 RGD:1311428 LRG_1324|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1324.xml 606453 303168 HGNC:1742 "ENST00000651943.2|NM_001364905.1" HGNC:1742 +HGNC:1742 LRBA LPS responsive beige-like anchor protein protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "BGL|LAB300|LBA|uc.147" CDC4L LPS-responsive vesicle trafficking, beach and anchor containing "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 1992-02-14 2001-10-05 2016-03-01 2023-06-01 987 ENSG00000198589 OTTHUMG00000161443 uc003ilu.5 AF216648 NM_001199282 "CCDS58928|CCDS93649|CCDS3773|CCDS93650" P50851 "1505956|11254716" MGI:1933162 RGD:1311428 LRG_1324|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1324.xml 606453 303168 HGNC:1742 "ENST00000651943.2|NM_001364905.1" HGNC:1742 HGNC:20309 LRCH1 leucine rich repeats and calponin homology domain containing 1 protein-coding gene gene with protein product Approved 13q14.13-q14.2 13q14.13-q14.2 KIAA1016 CHDC1 "calponin homology (CH) domain containing 1|leucine-rich repeats and calponin homology (CH) domain containing 1" 2003-01-24 2004-05-28 2016-06-06 2023-01-20 23143 ENSG00000136141 OTTHUMG00000016877 uc001vbj.4 AB023233 NM_015116 "CCDS53866|CCDS31972|CCDS53865" Q9Y2L9 10231032 MGI:2443390 RGD:1595678 610368 HGNC:20309 "ENST00000389797.8|NM_001164211.2" HGNC:29292 LRCH2 leucine rich repeats and calponin homology domain containing 2 protein-coding gene gene with protein product Approved Xq23 Xq23 KIAA1495 leucine-rich repeats and calponin homology (CH) domain containing 2 2004-05-27 2016-06-06 2023-01-20 57631 ENSG00000130224 OTTHUMG00000022233 uc010nqe.4 AB040928 NM_020871 "CCDS48155|CCDS59175" Q5VUJ6 10819331 MGI:2147870 RGD:1590569 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LRCH2 HGNC:29292 "ENST00000317135.13|NM_020871.4" -HGNC:28637 LRCH3 leucine rich repeats and calponin homology domain containing 3 protein-coding gene gene with protein product Approved 3q29 03q29 MGC4126 leucine-rich repeats and calponin homology (CH) domain containing 3 2004-06-03 2016-06-06 2023-01-20 84859 ENSG00000186001 OTTHUMG00000155378 uc011bul.2 AL137527 NM_032773 "CCDS3330|CCDS93456|CCDS87193" Q96II8 12477932 MGI:1917394 RGD:1306200 HGNC:28637 "ENST00000425562.7|NM_001365715.1" -HGNC:6691 LRCH4 leucine rich repeats and calponin homology domain containing 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "LRN|LRRN1" leucine-rich repeats and calponin homology (CH) domain containing 4 1998-06-03 2004-05-28 2016-06-06 2023-01-20 4034 ENSG00000077454 OTTHUMG00000159544 uc003uvj.4 AF053356 NM_002319 "CCDS94156|CCDS34706" O75427 "9799793|30523158" MGI:1917193 RGD:1306145 620165 HGNC:6691 "ENST00000310300.11|NM_002319.5" +HGNC:28637 LRCH3 leucine rich repeats and calponin homology domain containing 3 protein-coding gene gene with protein product Approved 3q29 03q29 MGC4126 leucine-rich repeats and calponin homology (CH) domain containing 3 2004-06-03 2016-06-06 2023-01-20 84859 ENSG00000186001 OTTHUMG00000155378 uc011bul.2 AL137527 NM_032773 "CCDS87193|CCDS93456|CCDS3330" Q96II8 12477932 MGI:1917394 RGD:1306200 HGNC:28637 "ENST00000425562.7|NM_001365715.1" +HGNC:6691 LRCH4 leucine rich repeats and calponin homology domain containing 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "LRN|LRRN1" leucine-rich repeats and calponin homology (CH) domain containing 4 1998-06-03 2004-05-28 2016-06-06 2023-01-20 4034 ENSG00000077454 OTTHUMG00000159544 uc003uvj.4 AF053356 NM_002319 "CCDS34706|CCDS94156" O75427 "9799793|30523158" MGI:1917193 RGD:1306145 620165 HGNC:6691 "ENST00000310300.11|NM_002319.5" HGNC:44160 LRCOL1 leucine rich colipase like 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 2012-07-02 2016-06-06 2023-01-20 100507055 ENSG00000204583 OTTHUMG00000168043 uc021rgr.2 NM_001195520 CCDS73547 A6NCL2 MGI:2686525 RGD:2323402 HGNC:44160 "ENST00000376608.9|NM_001195520.2" HGNC:29290 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "KIAA1484|SALM2" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2004-02-02 2023-01-20 57622 ENSG00000128011 OTTHUMG00000182808 uc002okw.3 BC014678 NM_020862 CCDS46071 Q9P244 "10819331|16828986" MGI:2136810 RGD:1304707 612807 HGNC:29290 "ENST00000248668.5|NM_020862.2" HGNC:21226 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 protein-coding gene gene with protein product Approved 6p21.2-p21.1 06p21.2-p21.1 FIGLER2 fibronectin type III, immunoglobulin and leucine rich repeat domains 2 "KIAA1246|SALM1" KIAA1246 "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2003-11-21 2004-02-04 2004-02-02 2023-01-20 57497 ENSG00000156564 OTTHUMG00000014662 uc003oph.2 AB033072 NM_020737 CCDS34443 Q9ULH4 "16495444|16828986" MGI:1917780 RGD:1311831 612808 HGNC:21226 "ENST00000338305.7|NM_020737.3" @@ -17465,17 +17466,17 @@ HGNC:28456 LRFN4 leucine rich repeat and fibronectin type III domain containing HGNC:20360 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 "FIGLER8|SALM5" fibronectin type III, immunoglobulin and leucine rich repeat domains 8 C14orf146 chromosome 14 open reading frame 146 "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2003-01-28 2004-02-04 2004-02-02 2023-01-20 145581 ENSG00000165379 OTTHUMG00000140261 uc001wvm.5 AK055365 NM_152447 "CCDS81800|CCDS9678" Q96NI6 16828986 MGI:2144814 RGD:1309357 612811 HGNC:20360 "ENST00000298119.9|NM_152447.5" HGNC:55444 LRFN5-DT LRFN5 divergent transcript non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Divergent transcripts 1990 2021-01-14 2021-01-14 105370469 ENSG00000258636 XR_001750740 HGNC:29480 LRG1 leucine rich alpha-2-glycoprotein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 LRG leucine rich alpha 2 glycoprotein 2004-02-12 2016-06-06 2023-01-20 116844 ENSG00000171236 OTTHUMG00000182010 uc002mau.4 NM_052972 CCDS12130 P02750 "3856868|12223515" MGI:1924155 RGD:1359464 611289 HGNC:29480 "ENST00000306390.7|NM_052972.3" -HGNC:21964 LRGUK leucine rich repeats and guanylate kinase domain containing protein-coding gene gene with protein product Approved 7q33 07q33 "FLJ32786|CFAP246" Cilia and flagella associated 1491 2006-10-27 2016-06-06 2023-01-20 136332 ENSG00000155530 OTTHUMG00000155320 uc003vrm.2 AK057348 NM_144648 "CCDS5830|CCDS94203|CCDS94204" Q96M69 25781171 MGI:1921604 RGD:1308226 616478 HGNC:21964 "ENST00000285928.3|NM_144648.3" -HGNC:30299 LRIF1 ligand dependent nuclear receptor interacting factor 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "RIF1|FLJ11269" receptor interacting factor 1 C1orf103 chromosome 1 open reading frame 103 2005-06-03 2011-04-15 2011-04-15 2023-01-20 55791 ENSG00000121931 OTTHUMG00000011913 uc001eaa.4 AY190122 NM_018372 "CCDS41366|CCDS30800" Q5T3J3 17455211 MGI:2445214 RGD:1306520 615354 HGNC:30299 "ENST00000369763.5|NM_018372.4" +HGNC:21964 LRGUK leucine rich repeats and guanylate kinase domain containing protein-coding gene gene with protein product Approved 7q33 07q33 "FLJ32786|CFAP246" Cilia and flagella associated 1491 2006-10-27 2016-06-06 2023-01-20 136332 ENSG00000155530 OTTHUMG00000155320 uc003vrm.2 AK057348 NM_144648 "CCDS94204|CCDS5830|CCDS94203" Q96M69 25781171 MGI:1921604 RGD:1308226 616478 HGNC:21964 "ENST00000285928.3|NM_144648.3" +HGNC:30299 LRIF1 ligand dependent nuclear receptor interacting factor 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "RIF1|FLJ11269" receptor interacting factor 1 C1orf103 chromosome 1 open reading frame 103 2005-06-03 2011-04-15 2011-04-15 2023-01-20 55791 ENSG00000121931 OTTHUMG00000011913 uc001eaa.4 AY190122 NM_018372 "CCDS30800|CCDS41366" Q5T3J3 17455211 MGI:2445214 RGD:1306520 615354 HGNC:30299 "ENST00000369763.5|NM_018372.4" HGNC:17360 LRIG1 leucine rich repeats and immunoglobulin like domains 1 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "LIG-1|DKFZP586O1624|LIG1" "ortholog of mouse integral membrane glycoprotein LIG-1|leucine-rich repeat protein LRIG1" I-set domain containing 593 2002-08-23 2016-06-06 2023-01-20 26018 ENSG00000144749 OTTHUMG00000158727 uc003dmx.4 AB050468 NM_015541 CCDS33783 Q96JA1 "11414704|12234026" MGI:107935 RGD:1306788 608868 470606 HGNC:17360 "ENST00000273261.8|NM_015541.3" HGNC:20889 LRIG2 leucine rich repeats and immunoglobulin like domains 2 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 KIAA0806 I-set domain containing 593 2003-04-25 2016-06-06 2023-01-20 9860 ENSG00000198799 OTTHUMG00000012133 uc001edf.2 AB018349 NM_014813 CCDS30808 O94898 MGI:2443718 RGD:1309554 608869 328676 HGNC:20889 "ENST00000361127.6|NM_014813.3" HGNC:20889 HGNC:54312 LRIG2-DT LRIG2 divergent transcript non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Divergent transcripts 1990 2019-05-03 2019-05-03 100996251 ENSG00000238198 NR_103777 HGNC:54312 -HGNC:30991 LRIG3 leucine rich repeats and immunoglobulin like domains 3 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "FLJ90440|KIAA3016" I-set domain containing 593 2004-04-30 2016-06-06 2023-01-20 121227 ENSG00000139263 OTTHUMG00000169940 uc001sqr.5 AY505340 NM_153377 "CCDS8960|CCDS44933" Q6UXM1 MGI:2443955 RGD:1561255 LRIG3 608870 HGNC:30991 "ENST00000320743.8|NM_153377.5" +HGNC:30991 LRIG3 leucine rich repeats and immunoglobulin like domains 3 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "FLJ90440|KIAA3016" I-set domain containing 593 2004-04-30 2016-06-06 2023-01-20 121227 ENSG00000139263 OTTHUMG00000169940 uc001sqr.5 AY505340 NM_153377 "CCDS44933|CCDS8960" Q6UXM1 MGI:2443955 RGD:1561255 LRIG3 608870 HGNC:30991 "ENST00000320743.8|NM_153377.5" HGNC:55476 LRIG3-DT LRIG3 divergent transcript non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 Divergent transcripts 1990 2021-03-11 2021-03-11 105369791 ENSG00000257443 NR_183518 HGNC:23404 LRIT1 leucine rich repeat, Ig-like and transmembrane domains 1 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "PAL|DKFZP434K091|FIGLER9" fibronectin type III, immunoglobulin and leucine rich repeat domains 9 LRRC21 leucine rich repeat containing 21 "Fibronectin type III domain containing|I-set domain containing" "555|593" 2003-11-17 2007-06-19 2016-06-06 2023-01-20 26103 ENSG00000148602 OTTHUMG00000018632 uc001kcz.2 AB031547 NM_015613 CCDS7373 Q9P2V4 10777785 MGI:2385320 RGD:628607 616103 HGNC:23404 "ENST00000372105.4|NM_015613.3" -HGNC:23443 LRIT2 leucine rich repeat, Ig-like and transmembrane domains 2 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 AC022389.4 LRRC22 leucine rich repeat containing 22 I-set domain containing 593 2004-06-02 2007-06-19 2016-06-06 2023-01-20 340745 ENSG00000204033 OTTHUMG00000018633 uc001kcy.5 NM_001284223 "CCDS60581|CCDS31234" A6NDA9 MGI:2444885 RGD:1564668 HGNC:23443 "ENST00000372113.7|NM_001017924.5" +HGNC:23443 LRIT2 leucine rich repeat, Ig-like and transmembrane domains 2 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 AC022389.4 LRRC22 leucine rich repeat containing 22 I-set domain containing 593 2004-06-02 2007-06-19 2016-06-06 2023-01-20 340745 ENSG00000204033 OTTHUMG00000018633 uc001kcy.5 NM_001284223 "CCDS31234|CCDS60581" A6NDA9 MGI:2444885 RGD:1564668 HGNC:23443 "ENST00000372113.7|NM_001017924.5" HGNC:24783 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 protein-coding gene gene with protein product Approved 4q25 04q25 "FLJ44691|FIGLER4|CSNB1F" fibronectin type III, immunoglobulin and leucine rich repeat domains 4 I-set domain containing 593 2007-06-19 2016-06-06 2023-01-20 345193 ENSG00000183423 OTTHUMG00000132043 uc031sgv.2 AK126648 NM_198506 CCDS3688 Q3SXY7 MGI:2685267 RGD:1559637 615004 322104 HGNC:24783 "ENST00000594814.6|NM_198506.5" HGNC:24783 -HGNC:23405 LRMDA leucine rich melanocyte differentiation associated protein-coding gene gene with protein product Approved 10q22.2-q22.3 10q22.2-q22.3 "CDA017|OCA7" oculocutaneous albinism 7, autosomal recessive C10orf11 chromosome 10 open reading frame 11 MicroRNA protein coding host genes 1691 2004-01-15 2017-04-05 2017-04-05 2023-01-20 83938 ENSG00000148655 OTTHUMG00000018532 uc001jxi.4 AF267860 NM_032024 "CCDS7351|CCDS76319" Q9H2I8 23395477 MGI:1923883 RGD:1596707 614537 354069 HGNC:23405 "ENST00000611255.5|NM_001305581.2" HGNC:23405 +HGNC:23405 LRMDA leucine rich melanocyte differentiation associated protein-coding gene gene with protein product Approved 10q22.2-q22.3 10q22.2-q22.3 "CDA017|OCA7" oculocutaneous albinism 7, autosomal recessive C10orf11 chromosome 10 open reading frame 11 MicroRNA protein coding host genes 1691 2004-01-15 2017-04-05 2017-04-05 2023-01-20 83938 ENSG00000148655 OTTHUMG00000018532 uc001jxi.4 AF267860 NM_032024 "CCDS76319|CCDS7351" Q9H2I8 23395477 MGI:1923883 RGD:1596707 614537 354069 HGNC:23405 "ENST00000611255.5|NM_001305581.2" HGNC:23405 HGNC:6692 LRP1 LDL receptor related protein 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "LRP|CD91|LRP1A|APOER|IGFBP3R1|IGFBP-3R" transforming growth factor-β receptor type V "APR|A2MR" "alpha-2-macroglobulin receptor|low density lipoprotein receptor-related protein 1" "CD molecules|Low density lipoprotein receptors|MicroRNA protein coding host genes" "471|634|1691" 1991-08-21 2015-11-13 2023-01-20 4035 ENSG00000123384 OTTHUMG00000044412 uc001snd.4 X13916 NM_002332 CCDS8932 Q07954 2548950 MGI:96828 RGD:1307535 107770 448482 CD91 HGNC:6692 "ENST00000243077.8|NM_002332.3" HGNC:6692 HGNC:51694 LRP1-AS LRP1 antisense RNA non-coding RNA RNA, long non-coding Approved 12q13.3 12q13.3 Antisense RNAs 1987 2015-05-07 2015-05-19 2018-08-23 105751187 ENSG00000259125 OTTHUMG00000171280 NR_131938 25937287 LRP1-AS HGNC:51694 HGNC:6693 LRP1B LDL receptor related protein 1B protein-coding gene gene with protein product Approved 2q22.1-q22.2 02q22.1-q22.2 "LRP-DIT|LRPDIT" LRP-deleted in tumors low density lipoprotein receptor-related protein 1B Low density lipoprotein receptors 634 2000-05-02 2015-11-13 2023-01-20 53353 ENSG00000168702 OTTHUMG00000131799 uc002tvj.2 AF176832 NM_018557 CCDS2182 Q9NZR2 10766186 MGI:2151136 RGD:1306160 LRP1B 608766 HGNC:6693 "ENST00000389484.8|NM_018557.3" @@ -17488,11 +17489,11 @@ HGNC:44128 LRP4-AS1 LRP4 antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:6697 LRP5 LDL receptor related protein 5 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "LR3|BMND1|HBM|OPS|OPTA1|VBCH2|EVR4" "LRP7|OPPG|EVR1" "osteoporosis pseudoglioma syndrome|exudative vitreoretinopathy 1|low density lipoprotein receptor-related protein 5" Low density lipoprotein receptors 634 1998-04-07 2015-11-13 2023-01-20 4041 ENSG00000162337 OTTHUMG00000167570 uc001ont.4 AF064548 NM_002335 CCDS8181 O75197 "9714764|10049586" MGI:1278315 RGD:1309329 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LRP5 603506 123115 HGNC:6697 "ENST00000294304.12|NM_002335.4" HGNC:6697 HGNC:25323 LRP5L LDL receptor related protein 5 like (pseudogene) pseudogene pseudogene Approved 22q11.23 22q11.23 DKFZp434O0213 "low density lipoprotein receptor-related protein 5-like|LDL receptor related protein 5 like" 2005-10-09 2022-05-25 2023-03-15 91355 ENSG00000100068 OTTHUMG00000150900 uc011ajz.3 AL137651 XR_005228024 A4QPB2 32789677 MGI:1278315 HGNC:25323 HGNC:6698 LRP6 LDL receptor related protein 6 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 ADCAD2 low density lipoprotein receptor-related protein 6 Low density lipoprotein receptors 634 1998-04-07 2015-11-13 2023-01-20 4040 ENSG00000070018 OTTHUMG00000168540 uc001rah.6 AF074264 NM_001414244 CCDS8647 O75581 9704021 MGI:1298218 RGD:1304749 603507 159752 HGNC:6698 "ENST00000261349.9|NM_002336.3" HGNC:6698 -HGNC:6700 LRP8 LDL receptor related protein 8 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "APOER2|MCI1|LRP-8|HSZ75190" low density lipoprotein receptor-related protein 8, apolipoprotein e receptor Low density lipoprotein receptors 634 1998-08-13 2015-11-13 2023-01-20 7804 ENSG00000157193 OTTHUMG00000008924 uc001cvi.4 D50678 NM_004631 "CCDS578|CCDS579|CCDS580|CCDS30720" Q14114 "8626535|9079678" MGI:1340044 RGD:1305729 602600 HGNC:6700 "ENST00000306052.12|NM_004631.5" HGNC:6700 +HGNC:6700 LRP8 LDL receptor related protein 8 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "APOER2|MCI1|LRP-8|HSZ75190" low density lipoprotein receptor-related protein 8, apolipoprotein e receptor Low density lipoprotein receptors 634 1998-08-13 2015-11-13 2023-01-20 7804 ENSG00000157193 OTTHUMG00000008924 uc001cvi.4 D50678 NM_004631 "CCDS30720|CCDS578|CCDS579|CCDS580" Q14114 "8626535|9079678" MGI:1340044 RGD:1305729 602600 HGNC:6700 "ENST00000306052.12|NM_004631.5" HGNC:6700 HGNC:52561 LRP8-DT LRP8 divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 LINC01771 long intergenic non-protein coding RNA 1771 Divergent transcripts 1990 2016-11-08 2021-08-12 2021-08-12 2021-08-12 105378732 ENSG00000225675 OTTHUMG00000008948 NR_131923 HGNC:52561 -HGNC:14553 LRP10 LDL receptor related protein 10 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "DKFZP564C1940|MGC8675|LRP9|MST087|MSTP087" low density lipoprotein receptor-related protein 10 Low density lipoprotein receptors 634 2002-09-09 2015-11-13 2023-01-20 26020 ENSG00000197324 OTTHUMG00000028705 uc001whd.4 AF131760 NM_001329226 "CCDS86372|CCDS9578" Q7Z4F1 11123907 MGI:1929480 RGD:1310471 609921 HGNC:14553 "ENST00000359591.9|NM_014045.5" +HGNC:14553 LRP10 LDL receptor related protein 10 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "DKFZP564C1940|MGC8675|LRP9|MST087|MSTP087" low density lipoprotein receptor-related protein 10 Low density lipoprotein receptors 634 2002-09-09 2015-11-13 2023-01-20 26020 ENSG00000197324 OTTHUMG00000028705 uc001whd.4 AF131760 NM_001329226 "CCDS9578|CCDS86372" Q7Z4F1 11123907 MGI:1929480 RGD:1310471 609921 HGNC:14553 "ENST00000359591.9|NM_014045.5" HGNC:16936 LRP11 LDL receptor related protein 11 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "bA350J20.3|MANSC3" low density lipoprotein receptor-related protein 11 Low density lipoprotein receptors 634 2003-04-15 2015-11-13 2023-01-20 84918 ENSG00000120256 OTTHUMG00000015801 uc003qng.3 AK027641 NM_032832 "CCDS5220|CCDS94018" Q86VZ4 MGI:2442989 RGD:1308602 HGNC:16936 "ENST00000239367.7|NM_032832.6" -HGNC:31708 LRP12 LDL receptor related protein 12 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "ST7|FLJ12929" low density lipoprotein receptor-related protein 12 Low density lipoprotein receptors 634 2004-07-06 2015-11-13 2023-01-20 29967 ENSG00000147650 OTTHUMG00000164892 uc003yma.4 AF166350 NM_013437 "CCDS47907|CCDS6303" Q9Y561 "12809483|14676824" MGI:2443132 RGD:1304943 618299 HGNC:31708 "ENST00000276654.10|NM_013437.5" +HGNC:31708 LRP12 LDL receptor related protein 12 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "ST7|FLJ12929" low density lipoprotein receptor-related protein 12 Low density lipoprotein receptors 634 2004-07-06 2015-11-13 2023-01-20 29967 ENSG00000147650 OTTHUMG00000164892 uc003yma.4 AF166350 NM_013437 "CCDS6303|CCDS47907" Q9Y561 "12809483|14676824" MGI:2443132 RGD:1304943 618299 HGNC:31708 "ENST00000276654.10|NM_013437.5" HGNC:6701 LRPAP1 LDL receptor related protein associated protein 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "HBP44|Alpha-2-MRAP" "A2MRAP|RAP" "low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)|low density lipoprotein receptor-related protein associated protein 1" 1993-07-13 2015-11-13 2023-05-10 4043 ENSG00000163956 OTTHUMG00000090299 uc003ghh.5 NM_002337 CCDS3371 P30533 "1712782|7538675|7789983" MGI:96829 RGD:620700 LRG_1299|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1299.xml 104225 363060 HGNC:6701 "ENST00000650182.1|NM_002337.4" HGNC:6701 HGNC:15714 LRPPRC leucine rich pentatricopeptide repeat containing protein-coding gene gene with protein product Approved 2p21 02p21 "GP130|LRP130" LSFC Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency) "Mitochondrial respiratory chain complex assembly factors|Pentatricopeptide repeat containing" "645|1823" 2001-06-04 2015-11-27 2023-01-20 10128 ENSG00000138095 OTTHUMG00000152782 uc002rtr.3 M92439 NM_133259 CCDS33189 P42704 "8012652|8619474|22045337" MGI:1919666 RGD:1306575 607544 123124 HGNC:15714 "ENST00000260665.12|NM_133259.4" HGNC:15714 HGNC:19742 LRR1 leucine rich repeat protein 1 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "MGC20689|LRR-1" LRR-repeat protein 1 PPIL5 peptidylprolyl isomerase (cyclophilin)-like 5 Cyclophilin peptidylprolyl isomerases 909 2002-11-20 2011-02-02 2011-02-02 2023-03-15 122769 ENSG00000165501 OTTHUMG00000140273 uc001wwn.3 BC030142 NM_203467 "CCDS9687|CCDS9686" Q96L50 "11804328|21074724" MGI:1916956 RGD:1589026 609193 HGNC:19742 "ENST00000298288.11|NM_152329.4" @@ -17508,14 +17509,14 @@ HGNC:40034 LRRC3C leucine rich repeat containing 3C protein-coding gene gene wit HGNC:15586 LRRC4 leucine rich repeat containing 4 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "NAG14|NGL-2" netrin-G ligand-2 leucine-rich repeat-containing 4 "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 2001-06-01 2003-11-19 2023-05-02 64101 ENSG00000128594 OTTHUMG00000157563 uc003vmk.4 AF196976 NM_022143 CCDS5799 Q9HBW1 12969517 MGI:2182081 RGD:1560026 610486 HGNC:15586 "ENST00000249363.4|NM_022143.5" HGNC:25042 LRRC4B leucine rich repeat containing 4B protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "DKFZp761A179|HSM|NGL-3" "netrin-G3 ligand|netrin-G ligand-3" LRIG4 leucine-rich repeats and immunoglobulin-like domains 4 "Receptor ligands|I-set domain containing|Ig-like cell adhesion molecule family" "542|593|1410" 2004-02-12 2004-06-16 2004-06-14 2023-05-02 94030 ENSG00000131409 OTTHUMG00000183063 uc002pss.4 BC032460 NM_001080457 CCDS42595 Q9NT99 11441184 MGI:3027390 RGD:1307121 ligandId:6607 HGNC:25042 "ENST00000652263.1|NM_001080457.2" HGNC:29317 LRRC4C leucine rich repeat containing 4C protein-coding gene gene with protein product Approved 11p12 11p12 "KIAA1580|NGL-1" netrin-G ligand-1 "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 2005-09-13 2023-05-02 57689 ENSG00000148948 OTTHUMG00000166383 uc031pzu.2 AB046800 NM_020929 CCDS31464 Q9HCJ2 14595443 MGI:2442636 RGD:1311013 608817 HGNC:29317 "ENST00000528697.6|NM_001258419.2" -HGNC:18531 LRRC7 leucine rich repeat containing 7 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KIAA1365|densin-180" PDZ domain containing 1220 2004-11-10 2023-03-15 57554 ENSG00000033122 OTTHUMG00000059194 uc001dep.4 NM_020794 "CCDS90974|CCDS90975|CCDS81341" Q96NW7 12525888 MGI:2676665 RGD:708527 614453 HGNC:18531 "ENST00000651989.2|NM_001370785.2" +HGNC:18531 LRRC7 leucine rich repeat containing 7 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KIAA1365|densin-180" PDZ domain containing 1220 2004-11-10 2023-03-15 57554 ENSG00000033122 OTTHUMG00000059194 uc001dep.4 NM_020794 "CCDS90974|CCDS81341|CCDS90975" Q96NW7 12525888 MGI:2676665 RGD:708527 614453 HGNC:18531 "ENST00000651989.2|NM_001370785.2" HGNC:40843 LRRC7-AS1 LRRC7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Antisense RNAs 1987 2019-08-16 2019-08-16 105378792 ENSG00000237919 OTTHUMG00000009266 XR_001738107 HGNC:40843 HGNC:19027 LRRC8A leucine rich repeat containing 8 VRAC subunit A protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KIAA1437|FLJ10337|SWELL1" LRRC8 "leucine rich repeat containing 8|leucine rich repeat containing 8 family member A" Volume regulated anion channel subunits 1158 2003-09-26 2005-06-29 2017-08-01 2023-01-20 56262 ENSG00000136802 OTTHUMG00000020766 uc004bwl.5 AB037858 NM_019594 CCDS35155 Q8IWT6 "24725410|24790029" MGI:2652847 RGD:1311690 "LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia|http://structure.bmc.lu.se/idbase/LRRC8Abase/|LRG_80|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_80.xml" 608360 123129 HGNC:19027 "ENST00000372600.9|NM_019594.4" HGNC:19027 HGNC:30692 LRRC8B leucine rich repeat containing 8 VRAC subunit B protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "TA-LRRP|KIAA0231" T cell activation leucine repeat rich protein leucine rich repeat containing 8 family member B Volume regulated anion channel subunits 1158 2005-06-29 2017-08-01 2023-01-20 23507 ENSG00000197147 OTTHUMG00000010129 uc057ieo.1 AF385436 NM_015350 CCDS724 Q6P9F7 "9039502|24790029" MGI:2141353 RGD:1563429 612888 HGNC:30692 "ENST00000330947.7|NM_001369817.2" HGNC:25075 LRRC8C leucine rich repeat containing 8 VRAC subunit C protein-coding gene gene with protein product Approved 1p22.2 01p22.2 AD158 hypothetical protein AD158 leucine rich repeat containing 8 family member C Volume regulated anion channel subunits 1158 2005-06-29 2017-08-01 2023-01-20 84230 ENSG00000171488 OTTHUMG00000010305 uc001dnl.5 NM_032270 CCDS725 Q8TDW0 "11230166|24790029" MGI:2140839 RGD:1306585 612889 HGNC:25075 "ENST00000370454.9|NM_032270.5" HGNC:53731 LRRC8C-DT LRRC8C divergent transcript non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 FLJ27354 Divergent transcripts 1990 2017-09-21 2017-09-21 400761 ENSG00000231999 OTTHUMG00000010130 NR_033981 28881755 HGNC:53731 HGNC:16992 LRRC8D leucine rich repeat containing 8 VRAC subunit D protein-coding gene gene with protein product Approved 1p22.2 01p22.2 FLJ10470 LRRC5 "leucine rich repeat containing 5|leucine rich repeat containing 8 family member D" Volume regulated anion channel subunits 1158 2001-10-30 2005-06-29 2017-08-01 2023-01-20 55144 ENSG00000171492 OTTHUMG00000010583 uc001dnm.4 AK001332 NM_018103 CCDS726 Q7L1W4 24790029 MGI:1922368 RGD:1309601 612890 HGNC:16992 "ENST00000337338.9|NM_001134479.2" -HGNC:55186 LRRC8D-DT LRRC8D divergent transcript non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 Divergent transcripts 1990 2020-08-12 2020-08-12 118568809 ENSG00000272931 +HGNC:55186 LRRC8D-DT LRRC8D divergent transcript non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 Divergent transcripts 1990 2020-08-12 2020-08-12 118568809 ENSG00000272931 NR_185885 HGNC:26272 LRRC8E leucine rich repeat containing 8 VRAC subunit E protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ23420 leucine rich repeat containing 8 family member E Volume regulated anion channel subunits 1158 2005-06-29 2017-08-01 2023-01-20 80131 ENSG00000171017 OTTHUMG00000182455 uc031rje.2 NM_025061 CCDS12189 Q6NSJ5 24790029 MGI:1919517 RGD:1311979 612891 HGNC:26272 "ENST00000306708.11|NM_025061.6" HGNC:19848 LRRC9 leucine rich repeat containing 9 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 FLJ46156 leucine-rich repeat-containing 9 2002-11-27 2003-11-19 2023-03-15 341883 ENSG00000131951 OTTHUMG00000028948 uc059cce.1 AK128037 NM_001355272 CCDS86397 Q6ZRR7 33854844 MGI:1925507 RGD:1565716 HGNC:19848 HGNC:20264 LRRC10 leucine rich repeat containing 10 protein-coding gene gene with protein product Approved 12q15 12q15 "HRLRRP|LRRC10A" heart-restricted leucine-rich repeat protein 2004-06-22 2023-01-20 376132 ENSG00000198812 OTTHUMG00000169384 uc001svc.4 AK095935 NM_201550 CCDS31856 Q5BKY1 "14751244|26608339" MGI:2448063 RGD:1307358 610846 HGNC:20264 "ENST00000361484.5|NM_201550.4" HGNC:20264 @@ -17523,26 +17524,26 @@ HGNC:37215 LRRC10B leucine rich repeat containing 10B protein-coding gene gene w HGNC:20419 LRRC14 leucine rich repeat containing 14 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KIAA0014|LRRC14A" 2004-01-15 2023-01-20 9684 ENSG00000160959 OTTHUMG00000165179 uc003zdk.4 BC011377 NM_014665 CCDS6432 Q15048 7584026 MGI:2445060 RGD:1560202 619368 HGNC:20419 "ENST00000292524.6|NM_014665.4" HGNC:37268 LRRC14B leucine rich repeat containing 14B protein-coding gene gene with protein product Approved 5p15.33 05p15.33 2009-09-10 2023-01-20 389257 ENSG00000185028 OTTHUMG00000161578 uc003jal.1 NM_001080478 CCDS47184 A6NHZ5 MGI:2145269 RGD:1564978 HGNC:37268 "ENST00000328278.4|NM_001080478.3" HGNC:20818 LRRC15 leucine rich repeat containing 15 protein-coding gene gene with protein product Approved 3q29 03q29 LIB 2003-04-25 2023-01-20 131578 ENSG00000172061 OTTHUMG00000156048 uc003ftu.3 AB071037 NM_001135057 "CCDS3306|CCDS46984" Q8TF66 12923058 MGI:1921738 RGD:70551 619327 HGNC:20818 "ENST00000347624.4|NM_130830.5" -HGNC:16895 LRRC17 leucine rich repeat containing 17 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "P37NB|H_RG318M05.3" 2003-08-07 2023-01-20 10234 ENSG00000128606 OTTHUMG00000157210 uc003vau.4 U32907 NM_005824 "CCDS34721|CCDS5727" Q8N6Y2 "8982252|19336404" MGI:1921761 RGD:1560165 618749 HGNC:16895 "ENST00000339431.9|NM_001031692.3" +HGNC:16895 LRRC17 leucine rich repeat containing 17 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "P37NB|H_RG318M05.3" 2003-08-07 2023-01-20 10234 ENSG00000128606 OTTHUMG00000157210 uc003vau.4 U32907 NM_005824 "CCDS5727|CCDS34721" Q8N6Y2 "8982252|19336404" MGI:1921761 RGD:1560165 618749 HGNC:16895 "ENST00000339431.9|NM_001031692.3" HGNC:23199 LRRC18 leucine rich repeat containing 18 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "UNQ933|MGC34773|UNQ9338|VKGE9338" 2004-05-27 2023-01-20 474354 ENSG00000165383 OTTHUMG00000018182 uc057tdu.1 AY358137 NM_001006939 CCDS31197 Q8N456 MGI:1914830 RGD:1311738 619002 HGNC:23199 "ENST00000374160.8|NM_001378102.1" HGNC:23379 LRRC19 leucine rich repeat containing 19 protein-coding gene gene with protein product Approved 9p21.2 09p21.2 FLJ21302 2003-11-14 2023-01-20 64922 ENSG00000184434 OTTHUMG00000019710 uc003zqh.4 AK024955 NM_022901 CCDS6518 Q9H756 MGI:2140219 RGD:1591722 619068 HGNC:23379 "ENST00000380055.6|NM_022901.3" -HGNC:23421 LRRC20 leucine rich repeat containing 20 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "FLJ10751|FLJ10844" 2004-04-15 2023-01-20 55222 ENSG00000172731 OTTHUMG00000018407 uc031pvr.2 BC024001 NM_018239 "CCDS7302|CCDS7300|CCDS73145|CCDS7301" Q8TCA0 MGI:2387182 RGD:1566140 HGNC:23421 "ENST00000446961.4|NM_001278212.2" +HGNC:23421 LRRC20 leucine rich repeat containing 20 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "FLJ10751|FLJ10844" 2004-04-15 2023-01-20 55222 ENSG00000172731 OTTHUMG00000018407 uc031pvr.2 BC024001 NM_018239 "CCDS7302|CCDS73145|CCDS7301|CCDS7300" Q8TCA0 MGI:2387182 RGD:1566140 HGNC:23421 "ENST00000446961.4|NM_001278212.2" HGNC:19138 LRRC23 leucine rich repeat containing 23 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "B7|LRPB7" 2006-01-24 2023-02-27 10233 ENSG00000010626 OTTHUMG00000156668 uc001qrp.4 BC014450 NM_006992 "CCDS8569|CCDS8568" Q53EV4 "11830501|11826754|34585727" MGI:1315192 RGD:1304779 HGNC:19138 "ENST00000443597.7|NM_001135217.2" HGNC:28947 LRRC24 leucine rich repeat containing 24 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 LRRC14OS I-set domain containing 593 2005-10-05 2023-01-20 441381 ENSG00000254402 OTTHUMG00000165180 uc003zdm.4 AB178281 NM_001024678 CCDS34969 Q50LG9 7584026 MGI:3605040 RGD:1308720 HGNC:28947 "ENST00000529415.7|NM_001024678.4" HGNC:29806 LRRC25 leucine rich repeat containing 25 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MAPA|FLJ38116" 2004-02-18 2023-01-20 126364 ENSG00000175489 OTTHUMG00000183361 uc002niw.4 AK095435 NM_145256 CCDS12377 Q8N386 12384430 MGI:2445284 RGD:1564818 607518 HGNC:29806 "ENST00000339007.4|NM_145256.3" HGNC:31409 LRRC26 leucine rich repeat containing 26 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "bA350O14.10|OTTHUMG00000020980" MicroRNA protein coding host genes 1691 2004-06-02 2023-01-20 389816 ENSG00000184709 OTTHUMG00000020980 uc004clp.4 DQ355157 NM_001013653 CCDS35184 Q2I0M4 22547800 MGI:2385129 RGD:1308398 613505 HGNC:31409 "ENST00000371542.3|NM_001013653.3" -HGNC:29346 LRRC27 leucine rich repeat containing 27 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 KIAA1674 2004-04-23 2023-01-20 80313 ENSG00000148814 OTTHUMG00000019284 uc010quw.2 AB051461 NM_030626 "CCDS44496|CCDS44495|CCDS31316" Q9C0I9 11214970 MGI:1923862 RGD:1559981 HGNC:29346 "ENST00000368614.8|NM_030626.3" -HGNC:28355 LRRC28 leucine rich repeat containing 28 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "MGC24976|FLJ34269|FLJ45242" 2004-06-29 2023-01-20 123355 ENSG00000168904 OTTHUMG00000149854 uc002bva.3 AK091588 NM_144598 "CCDS66873|CCDS10380" Q86X40 12975309 MGI:1915689 RGD:1307209 HGNC:28355 "ENST00000301981.8|NM_144598.5" +HGNC:29346 LRRC27 leucine rich repeat containing 27 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 KIAA1674 2004-04-23 2023-01-20 80313 ENSG00000148814 OTTHUMG00000019284 uc010quw.2 AB051461 NM_030626 "CCDS31316|CCDS44496|CCDS44495" Q9C0I9 11214970 MGI:1923862 RGD:1559981 HGNC:29346 "ENST00000368614.8|NM_030626.3" +HGNC:28355 LRRC28 leucine rich repeat containing 28 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "MGC24976|FLJ34269|FLJ45242" 2004-06-29 2023-01-20 123355 ENSG00000168904 OTTHUMG00000149854 uc002bva.3 AK091588 NM_144598 "CCDS10380|CCDS66873" Q86X40 12975309 MGI:1915689 RGD:1307209 HGNC:28355 "ENST00000301981.8|NM_144598.5" HGNC:30219 LRRC30 leucine rich repeat containing 30 protein-coding gene gene with protein product Approved 18p11.23 18p11.23 2005-01-06 2023-01-20 339291 ENSG00000206422 OTTHUMG00000178479 uc010wzk.3 NM_001105581 CCDS42409 A6NM36 MGI:2685172 RGD:1563832 HGNC:30219 "ENST00000383467.3|NM_001105581.3" -HGNC:26261 LRRC31 leucine rich repeat containing 31 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 FLJ23259 2005-01-24 2023-01-20 79782 ENSG00000114248 OTTHUMG00000164421 uc003fgc.3 AK026912 NM_024727 "CCDS63833|CCDS63832|CCDS43167" Q6UY01 12975309 MGI:2443864 RGD:1561499 HGNC:26261 "ENST00000316428.10|NM_024727.4" +HGNC:26261 LRRC31 leucine rich repeat containing 31 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 FLJ23259 2005-01-24 2023-01-20 79782 ENSG00000114248 OTTHUMG00000164421 uc003fgc.3 AK026912 NM_024727 "CCDS43167|CCDS63833|CCDS63832" Q6UY01 12975309 MGI:2443864 RGD:1561499 HGNC:26261 "ENST00000316428.10|NM_024727.4" HGNC:4161 LRRC32 leucine rich repeat containing 32 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "D11S833E|GARP" glycoprotein A repetitions predominant 1994-12-15 2005-02-25 2005-02-25 2023-01-20 2615 ENSG00000137507 OTTHUMG00000133687 uc001oxr.4 Z24680 NM_005512 CCDS8245 Q14392 "8180135|1543912" MGI:93882 RGD:1309087 137207 objectId:2913 HGNC:4161 "ENST00000260061.9|NM_001128922.2" -HGNC:28408 LRRC34 leucine rich repeat containing 34 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 MGC27085 2005-02-25 2023-01-20 151827 ENSG00000171757 OTTHUMG00000164419 uc003ffx.4 AK095125 NM_153353 "CCDS3208|CCDS54672|CCDS87166" Q8IZ02 "24991885|32299535" MGI:1919077 RGD:1565052 619037 HGNC:28408 "ENST00000446859.7|NM_001172779.2" +HGNC:28408 LRRC34 leucine rich repeat containing 34 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 MGC27085 2005-02-25 2023-01-20 151827 ENSG00000171757 OTTHUMG00000164419 uc003ffx.4 AK095125 NM_153353 "CCDS54672|CCDS3208|CCDS87166" Q8IZ02 "24991885|32299535" MGI:1919077 RGD:1565052 619037 HGNC:28408 "ENST00000446859.7|NM_001172779.2" HGNC:49887 LRRC34P1 leucine rich repeat containing 34 pseudogene 1 pseudogene pseudogene Approved 12p12.1 12p12.1 2014-03-18 2014-03-18 100288378 ENSG00000256371 OTTHUMG00000169102 NG_021708 PGOHUM00000239705 HGNC:49887 HGNC:49888 LRRC34P2 leucine rich repeat containing 34 pseudogene 2 pseudogene pseudogene Approved 4q12 04q12 2014-03-18 2014-03-18 100420613 ENSG00000250464 OTTHUMG00000160652 NG_025106 PGOHUM00000245536 HGNC:49888 -HGNC:25615 LRRC36 leucine rich repeat containing 36 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ11004 2005-04-05 2023-01-20 55282 ENSG00000159708 OTTHUMG00000173030 uc002esv.4 BC026156 NM_018296 "CCDS58474|CCDS32467" Q1X8D7 12477932 MGI:2448585 RGD:1303118 HGNC:25615 "ENST00000329956.11|NM_018296.6" +HGNC:25615 LRRC36 leucine rich repeat containing 36 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ11004 2005-04-05 2023-01-20 55282 ENSG00000159708 OTTHUMG00000173030 uc002esv.4 BC026156 NM_018296 "CCDS32467|CCDS58474" Q1X8D7 12477932 MGI:2448585 RGD:1303118 HGNC:25615 "ENST00000329956.11|NM_018296.6" HGNC:29069 LRRC37A leucine rich repeat containing 37A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "KIAA0563|LRRC37A1" 2005-04-15 2023-05-23 9884 ENSG00000176681 OTTHUMG00000149841 uc002ikg.3 BC040501 NM_014834 CCDS11504 A6NMS7 "9628581|15533724" "MGI:2685097|MGI:2685730" 616555 HGNC:29069 "ENST00000320254.5|NM_014834.4" HGNC:32404 LRRC37A2 leucine rich repeat containing 37 member A2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ45049 c114 SLIT-like testicular protein 2006-10-23 2016-06-03 2023-01-20 474170 ENSG00000238083 OTTHUMG00000178032 uc002ikn.2 AY386262 NM_001006607 CCDS42353 A6NM11 "MGI:2685097|MGI:2685730" 616556 HGNC:32404 "ENST00000576629.6|NM_001006607.3" -HGNC:32427 LRRC37A3 leucine rich repeat containing 37 member A3 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 "FLJ34306|KIAA0563" 2006-10-23 2016-06-03 2023-01-20 374819 ENSG00000176809 OTTHUMG00000132307 uc002jey.3 AB011135 NM_199340 "CCDS32708|CCDS77091" O60309 "MGI:2685097|MGI:2685730" RGD:1559753 616557 HGNC:32427 "ENST00000584306.6|NM_199340.5" +HGNC:32427 LRRC37A3 leucine rich repeat containing 37 member A3 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 "FLJ34306|KIAA0563" 2006-10-23 2016-06-03 2023-01-20 374819 ENSG00000176809 OTTHUMG00000132307 uc002jey.3 AB011135 NM_199340 "CCDS77091|CCDS32708" O60309 "MGI:2685097|MGI:2685730" RGD:1559753 616557 HGNC:32427 "ENST00000584306.6|NM_199340.5" HGNC:25479 LRRC37A4P leucine rich repeat containing 37 member A4, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 FLJ10120 LRRC37A4 2007-08-02 2012-03-07 2016-06-03 2016-06-03 55073 ENSG00000214425 OTTHUMG00000179212 AK000982 NR_002940 PGOHUM00000262955 HGNC:25479 HGNC:23369 LRRC37A5P leucine rich repeat containing 37 member A5, pseudogene pseudogene pseudogene Approved 9q31.3 09q31.3 C9orf29 chromosome 9 open reading frame 29 2005-12-09 2012-03-07 2016-06-03 2016-06-03 652972 ENSG00000204173 OTTHUMG00000020494 BC031236 NR_034087 Q49AS3 PGOHUM00000263227 HGNC:23369 HGNC:33746 LRRC37A6P leucine rich repeat containing 37 member A6, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 LRRC37E 2012-03-07 2016-06-03 2023-03-15 387646 ENSG00000230445 OTTHUMG00000017852 NR_003525 23064749 PGOHUM00000238378 HGNC:33746 @@ -17557,7 +17558,7 @@ HGNC:43818 LRRC37A14P leucine rich repeat containing 37 member A14, pseudogene p HGNC:43819 LRRC37A15P leucine rich repeat containing 37 member A15, pseudogene pseudogene pseudogene Approved 4q24 04q24 2012-03-13 2016-06-03 2016-06-03 106481796 ENSG00000230069 OTTHUMG00000161081 NG_045650 PGOHUM00000250726 HGNC:43819 HGNC:43820 LRRC37A16P leucine rich repeat containing 37 member A16, pseudogene pseudogene pseudogene Approved 17q24.2 17q24.2 LRRC37C 2012-03-13 2016-06-03 2016-11-09 651250 ENSG00000267023 OTTHUMG00000180160 NG_023507 23064749 PGOHUM00000237165 HGNC:43820 HGNC:48365 LRRC37A17P leucine rich repeat containing 37 member A17, pseudogene pseudogene pseudogene Approved 17q21.32 17q21.32 LRRC37A5 "leucine rich repeat containing 37, member A17, pseudogene|leucine-rich repeat containing 37 member A17, pseudogene" 2013-05-14 2016-06-03 2016-06-03 644397 ENSG00000263142 OTTHUMG00000178082 NG_028735 23064749 PGOHUM00000237421 HGNC:48365 -HGNC:29070 LRRC37B leucine rich repeat containing 37B protein-coding gene gene with protein product Approved 17q11.2 17q11.2 KIAA0563-related 2005-04-15 2005-08-09 2023-01-20 114659 ENSG00000185158 OTTHUMG00000132785 uc060dsu.1 AJ314647 NM_052888 "CCDS82102|CCDS32609" Q96QE4 "11468690|10843809" MGI:2685730 616558 HGNC:29070 "ENST00000543378.7|NM_001321350.2" +HGNC:29070 LRRC37B leucine rich repeat containing 37B protein-coding gene gene with protein product Approved 17q11.2 17q11.2 KIAA0563-related 2005-04-15 2005-08-09 2023-01-20 114659 ENSG00000185158 OTTHUMG00000132785 uc060dsu.1 AJ314647 NM_052888 "CCDS32609|CCDS82102" Q96QE4 "11468690|10843809" MGI:2685730 616558 HGNC:29070 "ENST00000543378.7|NM_001321350.2" HGNC:25390 LRRC37BP1 leucine rich repeat containing 37B pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 DKFZp667M2411 LRRC37B2 leucine rich repeat containing 37, member B2 2007-08-16 2010-08-16 2010-08-16 2023-03-15 147172 ENSG00000250462 OTTHUMG00000132795 BC118647 NR_015341 HGNC:25390 HGNC:27005 LRRC38 leucine rich repeat containing 38 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 2005-05-19 2023-01-20 126755 ENSG00000162494 OTTHUMG00000007918 uc001avb.4 BC016048 NM_001010847 CCDS53269 Q5VT99 22547800 MGI:2442845 RGD:1311416 615212 HGNC:27005 "ENST00000376085.4|NM_001010847.2" HGNC:28228 LRRC39 leucine rich repeat containing 39 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "MGC14816|myomasp" Myosin-interacting, M-band-associated stress-responsive protein 2005-05-23 2023-01-20 127495 ENSG00000122477 OTTHUMG00000010839 uc057iqj.1 AK096892 NM_144620 "CCDS58014|CCDS766" Q96DD0 "12975309|20847312" MGI:1924557 RGD:1585106 HGNC:28228 "ENST00000370137.6|NM_144620.4" @@ -17568,8 +17569,8 @@ HGNC:28562 LRRC43 leucine rich repeat containing 43 protein-coding gene gene wit HGNC:28302 LRRC45 leucine rich repeat containing 45 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 MGC20806 2005-05-26 2023-01-20 201255 ENSG00000169683 OTTHUMG00000178454 uc002kde.4 BC014109 NM_144999 CCDS11797 Q96CN5 24035387 MGI:2387183 RGD:1590053 HGNC:28302 "ENST00000306688.8|NM_144999.4" HGNC:25047 LRRC46 leucine rich repeat containing 46 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 MGC16309 2005-05-26 2023-01-20 90506 ENSG00000141294 OTTHUMG00000178289 uc002ima.3 NM_033413 CCDS11518 Q96FV0 12477932 MGI:1916547 RGD:1303311 HGNC:25047 "ENST00000269025.9|NM_033413.4" HGNC:29207 LRRC47 leucine rich repeat containing 47 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "KIAA1185|RP1-286D6.3" 2005-05-26 2023-01-20 57470 ENSG00000130764 OTTHUMG00000003506 uc001akx.2 AB033011 NM_020710 CCDS51 Q8N1G4 10574461 MGI:1920196 RGD:1308599 619154 HGNC:29207 "ENST00000378251.3|NM_020710.3" -HGNC:25965 LRRC49 leucine rich repeat containing 49 protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ20156|CSTPP2|PGs4" "centriolar satellite-associated tubulin polyglutamylation protein 2|polyglutamylase subunit 4" Tubulin polyglutamylase complex subunits 2117 2005-05-26 2023-01-20 54839 ENSG00000137821 OTTHUMG00000172182 uc002asw.5 NM_017691 "CCDS55971|CCDS86472|CCDS32282|CCDS58376|CCDS61694" Q8IUZ0 "15890843|34782749" MGI:2442689 RGD:1309466 HGNC:25965 "ENST00000260382.10|NM_017691.5" -HGNC:55526 LRRC51 leucine rich repeat containing 51 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 2021-03-19 2023-01-20 120356739 ENSG00000184154 NM_001145307 "CCDS59227|CCDS44667|CCDS55778|CCDS8208" Q96E66 MGI:1916608 RGD:1565856 "ENST00000289488.8|NM_145309.6" +HGNC:25965 LRRC49 leucine rich repeat containing 49 protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ20156|CSTPP2|PGs4" "centriolar satellite-associated tubulin polyglutamylation protein 2|polyglutamylase subunit 4" Tubulin polyglutamylase complex subunits 2117 2005-05-26 2023-01-20 54839 ENSG00000137821 OTTHUMG00000172182 uc002asw.5 NM_017691 "CCDS55971|CCDS58376|CCDS32282|CCDS86472|CCDS61694" Q8IUZ0 "15890843|34782749" MGI:2442689 RGD:1309466 HGNC:25965 "ENST00000260382.10|NM_017691.5" +HGNC:55526 LRRC51 leucine rich repeat containing 51 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 2021-03-19 2023-01-20 120356739 ENSG00000184154 NM_001145307 "CCDS55778|CCDS8208|CCDS44667|CCDS59227" Q96E66 MGI:1916608 RGD:1565856 "ENST00000289488.8|NM_145309.6" HGNC:32156 LRRC52 leucine rich repeat containing 52 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 FLJ25811 2005-07-25 2023-01-20 440699 ENSG00000162763 OTTHUMG00000034625 uc001gde.3 AK098677 NM_001005214 CCDS30930 Q8N7C0 22547800 MGI:1924118 RGD:1312014 615218 HGNC:32156 "ENST00000294818.2|NM_001005214.4" HGNC:54044 LRRC52-AS1 LRRC52 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.3-q24.1 01q23.3-q24.1 Antisense RNAs 1987 2018-09-26 2018-09-26 400794 ENSG00000237463 NR_026744 HGNC:54044 HGNC:25255 LRRC53 leucine rich repeat containing 53 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 2007-12-14 2023-01-20 105378803 ENSG00000162621 OTTHUMG00000009621 uc057hqj.1 NM_001364666 CCDS90978 A6NM62 RGD:7683241 HGNC:25255 "ENST00000294635.5|NM_001382280.1" @@ -17587,17 +17588,17 @@ HGNC:35155 LRRC70 leucine rich repeat containing 70 protein-coding gene gene wit HGNC:26556 LRRC71 leucine rich repeat containing 71 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 FLJ32884 C1orf92 chromosome 1 open reading frame 92 2005-05-27 2011-02-14 2011-02-14 2023-01-20 149499 ENSG00000160838 OTTHUMG00000041298 uc001fqm.3 BC033790 NM_144702 CCDS44249 Q8N4P6 14702039 MGI:1921735 RGD:1309453 HGNC:26556 "ENST00000337428.8|NM_144702.3" HGNC:42972 LRRC72 leucine rich repeat containing 72 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "CFAP279|FAP279" Cilia and flagella associated 1491 2011-10-07 2023-01-20 100506049 ENSG00000205858 OTTHUMG00000152446 uc022aaf.2 NM_001195280 CCDS56464 A6NJI9 MGI:1920830 RGD:1560395 HGNC:42972 "ENST00000401542.3|NM_001195280.2" HGNC:21375 LRRC73 leucine rich repeat containing 73 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 dJ337H4.2 C6orf154 chromosome 6 open reading frame 154 2003-11-03 2011-11-25 2011-11-25 2023-01-20 221424 ENSG00000204052 OTTHUMG00000014737 uc003ovk.3 NM_001012974 CCDS34456 Q5JTD7 MGI:2684934 RGD:1561390 HGNC:21375 "ENST00000372441.2|NM_001012974.4" -HGNC:23346 LRRC74A leucine rich repeat containing 74A protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "C14orf166B|LRRC74" "chromosome 14 open reading frame 166B|LRRC74|leucine rich repeat containing 74" 2004-06-25 2014-07-30 2014-07-30 2023-01-20 145497 ENSG00000100565 OTTHUMG00000150153 AK058106 NM_194287 "CCDS9853|CCDS91912|CCDS91911" Q0VAA2 MGI:3646959 RGD:1564488 HGNC:23346 "ENST00000689127.1|NM_001385106.1" +HGNC:23346 LRRC74A leucine rich repeat containing 74A protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "C14orf166B|LRRC74" "chromosome 14 open reading frame 166B|LRRC74|leucine rich repeat containing 74" 2004-06-25 2014-07-30 2014-07-30 2023-01-20 145497 ENSG00000100565 OTTHUMG00000150153 AK058106 NM_194287 "CCDS91911|CCDS9853|CCDS91912" Q0VAA2 MGI:3646959 RGD:1564488 HGNC:23346 "ENST00000689127.1|NM_001385106.1" HGNC:34301 LRRC74B leucine rich repeat containing 74B protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2014-07-30 2023-01-20 400891 ENSG00000187905 OTTHUMG00000150897 BC028231 NM_001291006 CCDS77654 Q6ZQY2 MGI:1921935 RGD:2319134 HGNC:34301 "ENST00000442047.3|NM_001291006.2" -HGNC:32403 LRRC75A leucine rich repeat containing 75A protein-coding gene gene with protein product Approved 17p11.2 17p11.2 FLJ35696 "C17orf76|FAM211A" "chromosome 17 open reading frame 76|family with sequence similarity 211, member A" 2006-01-13 2014-03-11 2014-03-11 2023-01-20 388341 ENSG00000181350 OTTHUMG00000058988 AK093015 NM_207387 "CCDS45620|CCDS11178" Q8NAA5 14702039 MGI:2682293 RGD:1595947 HGNC:32403 "ENST00000470794.2|NM_001113567.3" +HGNC:32403 LRRC75A leucine rich repeat containing 75A protein-coding gene gene with protein product Approved 17p11.2 17p11.2 FLJ35696 "C17orf76|FAM211A" "chromosome 17 open reading frame 76|family with sequence similarity 211, member A" 2006-01-13 2014-03-11 2014-03-11 2023-01-20 388341 ENSG00000181350 OTTHUMG00000058988 AK093015 NM_207387 "CCDS11178|CCDS45620" Q8NAA5 14702039 MGI:2682293 RGD:1595947 HGNC:32403 "ENST00000470794.2|NM_001113567.3" HGNC:33155 LRRC75B leucine rich repeat containing 75B protein-coding gene gene with protein product Approved 22q11.23 22q11.23 MGC131773 "C22orf36|FAM211B" "chromosome 22 open reading frame 36|family with sequence similarity 211, member B" 2006-10-16 2014-03-11 2014-03-11 2023-01-20 388886 ENSG00000178026 OTTHUMG00000150729 AK097054 NM_207644 CCDS42991 Q2VPJ9 MGI:2143657 RGD:2318441 HGNC:33155 "ENST00000318753.13|NM_207644.3" HGNC:50536 LRRC77P leucine rich repeat containing 77, pseudogene pseudogene pseudogene Approved 3q26.1-q26.2 03q26.1-q26.2 LINC01330 long intergenic non-protein coding RNA 1330 2014-05-14 2017-01-19 2017-01-19 2018-02-13 646168 ENSG00000244227 OTTHUMG00000158503 "AK093355|BC043538" NR_033843 MGI:5579839 HGNC:50536 HGNC:54091 LRRC78P leucine rich repeat containing 78, pseudogene pseudogene pseudogene Approved 3q23 03q23 LINC02618 long intergenic non-protein coding RNA 2618 2018-11-04 2022-06-22 2022-06-22 2022-06-22 646730 ENSG00000242104 OTTHUMG00000159357 NR_136190 MGI:5579435 RGD:7718778 HGNC:54091 HGNC:29373 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 "KIAA1764|CLERC|VFL1" "centrosomal leucine-rich repeat and coiled-coil containing protein|variable number of flagella 1 homolog (Chlamydomonas)" leucine rich repeat and coiled-coil domain containing 1 2005-08-18 2012-04-10 2023-03-15 85444 ENSG00000133739 OTTHUMG00000164784 uc003ycw.4 BC030701 NM_033402 CCDS43750 Q9C099 "11214970|18728398" MGI:1918960 RGD:628722 617791 HGNC:29373 "ENST00000360375.8|NM_033402.5" -HGNC:34300 LRRD1 leucine rich repeats and death domain containing 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 IMAGE:4798971 2011-05-23 2016-06-06 2023-01-20 401387 ENSG00000240720 OTTHUMG00000155861 uc064fgw.1 BC026112 NM_001045475 "CCDS94143|CCDS55124" A4D1F6 MGI:3045299 RGD:1562785 HGNC:34300 "ENST00000458448.6|NM_001161528.2" -HGNC:6702 LRRFIP1 LRR binding FLII interacting protein 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLAP-1|FLIIAP1|TRIP|GCF-2|HUFI-1|GCF2" GC-binding factor 2 leucine rich repeat (in FLII) interacting protein 1 1999-02-15 2016-06-20 2023-01-20 9208 ENSG00000124831 OTTHUMG00000133339 uc002vxd.4 AJ223075 NM_004735 "CCDS46552|CCDS46553|CCDS46551|CCDS2521" Q32MZ4 "9705290|9525888|16199883" MGI:1342770 RGD:1359548 603256 HGNC:6702 "ENST00000308482.14|NM_001137550.2" HGNC:6702 +HGNC:34300 LRRD1 leucine rich repeats and death domain containing 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 IMAGE:4798971 2011-05-23 2016-06-06 2023-01-20 401387 ENSG00000240720 OTTHUMG00000155861 uc064fgw.1 BC026112 NM_001045475 "CCDS55124|CCDS94143" A4D1F6 MGI:3045299 RGD:1562785 HGNC:34300 "ENST00000458448.6|NM_001161528.2" +HGNC:6702 LRRFIP1 LRR binding FLII interacting protein 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLAP-1|FLIIAP1|TRIP|GCF-2|HUFI-1|GCF2" GC-binding factor 2 leucine rich repeat (in FLII) interacting protein 1 1999-02-15 2016-06-20 2023-01-20 9208 ENSG00000124831 OTTHUMG00000133339 uc002vxd.4 AJ223075 NM_004735 "CCDS46551|CCDS46552|CCDS46553|CCDS2521" Q32MZ4 "9705290|9525888|16199883" MGI:1342770 RGD:1359548 603256 HGNC:6702 "ENST00000308482.14|NM_001137550.2" HGNC:6702 HGNC:32937 LRRFIP1P1 LRR binding FLII interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 3q26.32 03q26.32 leucine rich repeat (in FLII) interacting protein 1 pseudogene 1 2010-09-30 2016-06-27 2016-06-27 101290506 ENSG00000240429 OTTHUMG00000157336 NG_033175 PGOHUM00000237876 HGNC:32937 -HGNC:6703 LRRFIP2 LRR binding FLII interacting protein 2 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 HUFI-2 leucine rich repeat (in FLII) interacting protein 2 1999-02-15 2016-06-20 2023-01-20 9209 ENSG00000093167 OTTHUMG00000130796 uc003cgt.4 AF115509 NM_006309 "CCDS2665|CCDS63592|CCDS46791|CCDS2664" Q9Y608 10366446 MGI:1918518 RGD:1306234 614043 HGNC:6703 "ENST00000336686.9|NM_006309.4" +HGNC:6703 LRRFIP2 LRR binding FLII interacting protein 2 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 HUFI-2 leucine rich repeat (in FLII) interacting protein 2 1999-02-15 2016-06-20 2023-01-20 9209 ENSG00000093167 OTTHUMG00000130796 uc003cgt.4 AF115509 NM_006309 "CCDS63592|CCDS2665|CCDS2664|CCDS46791" Q9Y608 10366446 MGI:1918518 RGD:1306234 614043 HGNC:6703 "ENST00000336686.9|NM_006309.4" HGNC:54992 LRRFIP2P1 LRRFIP2 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 2020-05-15 2020-05-15 100128738 ENSG00000237014 NG_022611 HGNC:25708 LRRIQ1 leucine rich repeats and IQ motif containing 1 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "FLJ12303|KIAA1801" 2004-09-01 2016-06-03 2023-03-15 84125 ENSG00000133640 OTTHUMG00000166185 uc001tac.4 AK022365 NM_032165 CCDS41816 Q96JM4 11347906 MGI:1922228 RGD:1564903 HGNC:25708 "ENST00000393217.7|NM_001079910.2" HGNC:28318 LRRIQ3 leucine rich repeats and IQ motif containing 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 MGC22773 LRRC44 leucine rich repeat containing 44 2005-05-26 2008-06-12 2016-06-03 2023-03-15 127255 ENSG00000162620 OTTHUMG00000009508 uc001dfy.5 BX647210 NM_145258 CCDS41350 A6PVS8 12477932 MGI:1921685 RGD:1591943 617957 HGNC:28318 "ENST00000354431.9|NM_001105659.2" @@ -17615,8 +17616,8 @@ HGNC:19409 LRRTM2 leucine rich repeat transmembrane neuronal 2 protein-coding ge HGNC:19410 LRRTM3 leucine rich repeat transmembrane neuronal 3 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 2004-02-04 2023-01-20 347731 ENSG00000198739 OTTHUMG00000018332 uc001jmz.2 BX640611 NM_178011 CCDS7270 Q86VH5 12676565 MGI:2389177 RGD:1304866 610869 HGNC:19410 "ENST00000361320.5|NM_178011.5" HGNC:19411 LRRTM4 leucine rich repeat transmembrane neuronal 4 protein-coding gene gene with protein product Approved 2p12 02p12 FLJ12568 2004-06-22 2023-01-20 80059 ENSG00000176204 OTTHUMG00000152842 uc002snq.4 AK122612 NM_024993 "CCDS46346|CCDS46347|CCDS74530|CCDS82475" Q86VH4 12676565 MGI:2389180 RGD:1560707 610870 HGNC:19411 "ENST00000409884.6|NM_001134745.3" HGNC:40889 LRRTM4-AS1 LRRTM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p12 02p12 Antisense RNAs 1987 2019-08-16 2019-08-16 101927907 ENSG00000234653 OTTHUMG00000152840 NR_110284 HGNC:40889 -HGNC:25135 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 protein-coding gene gene with protein product Approved 9q33.3-q34.11 09q33.3-q34.11 "FLJ31641|CMT2P|RIFLE|TAL" "E3 ubiquitin-protein ligase LRSAM1|TSG 101-associated ligase|RING finger leucine repeat rich" "Ring finger proteins|Sterile alpha motif domain containing" "58|760" 2003-12-19 2023-01-20 90678 ENSG00000148356 OTTHUMG00000020701 uc004brb.2 AK056203 NM_138361 "CCDS94485|CCDS6873|CCDS55347" Q6UWE0 "12975309|23245317|23245322|25484098" MGI:2684789 RGD:1564403 LRG_373|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_373.xml 610933 303011 6.3.2.- HGNC:25135 "ENST00000300417.11|NM_001005373.4" HGNC:25135 -HGNC:25023 LRTM1 leucine rich repeats and transmembrane domains 1 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 HT017 2006-01-02 2016-06-06 2023-01-20 57408 ENSG00000144771 OTTHUMG00000158578 uc003dhl.4 AF225421 NM_020678 "CCDS2876|CCDS77753" Q9HBL6 12477932 MGI:2442106 RGD:2321691 HGNC:25023 "ENST00000273286.6|NM_020678.4" +HGNC:25135 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 protein-coding gene gene with protein product Approved 9q33.3-q34.11 09q33.3-q34.11 "FLJ31641|CMT2P|RIFLE|TAL" "E3 ubiquitin-protein ligase LRSAM1|TSG 101-associated ligase|RING finger leucine repeat rich" "Ring finger proteins|Sterile alpha motif domain containing" "58|760" 2003-12-19 2023-01-20 90678 ENSG00000148356 OTTHUMG00000020701 uc004brb.2 AK056203 NM_138361 "CCDS6873|CCDS94485|CCDS55347" Q6UWE0 "12975309|23245317|23245322|25484098" MGI:2684789 RGD:1564403 LRG_373|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_373.xml 610933 303011 6.3.2.- HGNC:25135 "ENST00000300417.11|NM_001005373.4" HGNC:25135 +HGNC:25023 LRTM1 leucine rich repeats and transmembrane domains 1 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 HT017 2006-01-02 2016-06-06 2023-01-20 57408 ENSG00000144771 OTTHUMG00000158578 uc003dhl.4 AF225421 NM_020678 "CCDS77753|CCDS2876" Q9HBL6 12477932 MGI:2442106 RGD:2321691 HGNC:25023 "ENST00000273286.6|NM_020678.4" HGNC:32443 LRTM2 leucine rich repeats and transmembrane domains 2 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 2006-01-05 2016-06-06 2023-01-20 654429 ENSG00000166159 OTTHUMG00000168088 uc001qju.2 AK095610 NM_001039029 CCDS31726 Q8N967 MGI:2141485 RGD:1587001 HGNC:32443 "ENST00000299194.6|NM_001039029.3" HGNC:25033 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing other readthrough Approved 11q13.4 11q13.4 "COMT2|CFAP111|LRTOMT1|LRTOMT2" "LRRC51|DFNB63" "leucine rich repeat containing 51|deafness, autosomal recessive 63" Cilia and flagella associated 1491 2005-05-26 2008-11-27 2013-08-19 2023-03-15 220074 ENSG00000284922 OTTHUMG00000154887 uc010rqw.3 NM_145309 CCDS44668 "18794526|18953341" "MGI:1916608|MGI:3769724" RGD:1561509 612414 169402 HGNC:25033 HGNC:25033 HGNC:21769 LRWD1 leucine rich repeats and WD repeat domain containing 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DKFZp434K1815|ORCA|CENP-33" "origin recognition complex associated|centromere protein 33" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2007-10-17 2016-06-06 2023-01-20 222229 ENSG00000161036 OTTHUMG00000157718 uc003uzn.4 AL133057 NM_152892 CCDS34715 Q9UFC0 "20932478|20850016|20180869" MGI:1918985 RGD:1359442 615167 HGNC:21769 "ENST00000292616.10|NM_152892.3" @@ -17634,7 +17635,7 @@ HGNC:44347 LSM3P2 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associ HGNC:44348 LSM3P3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 3 pseudogene pseudogene Approved 2p11.2 02p11.2 "LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 3|LSM3 pseudogene 3|LSM3 U6 small nuclear RNA and mRNA degradation associated pseudogene 3" 2012-08-15 2015-07-02 2015-07-02 647302 ENSG00000225787 OTTHUMG00000153212 NG_012903 PGOHUM00000240121 HGNC:44348 HGNC:44349 LSM3P4 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 4 pseudogene pseudogene Approved 4q31.21 04q31.21 "LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 4|LSM3 pseudogene 4|LSM3 U6 small nuclear RNA and mRNA degradation associated pseudogene 4" 2012-08-15 2015-07-02 2015-07-02 100130178 ENSG00000250835 OTTHUMG00000161338 NG_012902 PGOHUM00000246090 HGNC:44349 HGNC:44350 LSM3P5 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 5 pseudogene pseudogene Approved 16q23.1 16q23.1 "LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 5|LSM3 pseudogene 5|LSM3 U6 small nuclear RNA and mRNA degradation associated pseudogene 5" 2012-08-15 2015-07-02 2015-07-02 100303743 ENSG00000260014 OTTHUMG00000176922 NG_012900 PGOHUM00000249176 HGNC:44350 -HGNC:17259 LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated protein-coding gene gene with protein product Approved 19p13.11 19p13.11 YER112W LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2015-07-02 2023-01-20 25804 ENSG00000130520 OTTHUMG00000183357 uc002niq.4 AF117235 NM_001252129 "CCDS62601|CCDS12374" Q9Y4Z0 "10369684|10523320|12515382" MGI:1354692 RGD:1306808 607284 HGNC:17259 "ENST00000593829.6|NM_012321.5" +HGNC:17259 LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated protein-coding gene gene with protein product Approved 19p13.11 19p13.11 YER112W LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2015-07-02 2023-01-20 25804 ENSG00000130520 OTTHUMG00000183357 uc002niq.4 AF117235 NM_001252129 "CCDS12374|CCDS62601" Q9Y4Z0 "10369684|10523320|12515382" MGI:1354692 RGD:1306808 607284 HGNC:17259 "ENST00000593829.6|NM_012321.5" HGNC:17162 LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated protein-coding gene gene with protein product Approved 7p14.3 07p14.3 YER146W LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2015-07-02 2023-01-20 23658 ENSG00000106355 OTTHUMG00000022913 uc003tct.3 AF182291 NM_001130710 Q9Y4Y9 "10369684|10523320|12515382" MGI:1913623 RGD:1308655 607285 HGNC:17162 "ENST00000450169.7|NM_012322.3" HGNC:17017 LSM6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated protein-coding gene gene with protein product Approved 4q31.22 04q31.22 YDR378C LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2015-07-02 2023-01-20 11157 ENSG00000164167 OTTHUMG00000161440 uc003ikq.5 AF182292 NM_007080 CCDS3767 P62312 "10369684|10523320|12515382" MGI:1925901 RGD:1561937 607286 HGNC:17017 "ENST00000296581.11|NM_007080.3" HGNC:31738 LSM6P1 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 1 pseudogene pseudogene Approved 18q21.33 18q21.33 HsT818 LSM6P "LSM6 homolog, U6 small nuclear RNA associated pseudogene|LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene|LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 1|LSM6 pseudogene 1" 2006-01-24 2010-02-25 2015-07-02 2020-04-20 100129011 NG_016615 PGOHUM00000294678 HGNC:31738 @@ -17643,9 +17644,9 @@ HGNC:20470 LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associat HGNC:20471 LSM8 LSM8 homolog, U6 small nuclear RNA associated protein-coding gene gene with protein product Approved 7q31.31 07q31.31 YJR022W LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2014-01-21 2015-07-02 2023-01-20 51691 ENSG00000128534 OTTHUMG00000156956 uc002giz.4 AF182294 NM_016200 CCDS5775 O95777 "10523320|19660095" MGI:1923772 RGD:1308442 607288 HGNC:20471 "ENST00000249299.7|NM_016200.5" HGNC:17562 LSM10 LSM10, U7 small nuclear RNA associated protein-coding gene gene with protein product Approved 1p34.3 01p34.3 MGC15749 LSm proteins 1505 2004-04-28 2023-01-20 84967 ENSG00000181817 OTTHUMG00000008140 uc001cao.1 AF394685 NM_032881 CCDS408 Q969L4 11574479 MGI:2151045 RGD:1584914 617909 HGNC:17562 "ENST00000315732.3|NM_032881.3" HGNC:30860 LSM11 LSM11, U7 small nuclear RNA associated protein-coding gene gene with protein product Approved 5q33.3 05q33.3 FLJ38273 LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2004-04-26 2004-04-28 2023-01-20 134353 ENSG00000155858 OTTHUMG00000130255 uc003lxf.2 AK095592 NM_173491 CCDS4342 P83369 12975319 MGI:1919540 RGD:1565523 617910 HGNC:30860 "ENST00000286307.6|NM_173491.4" HGNC:30860 -HGNC:26407 LSM12 LSM12 homolog protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ30656 LSM12 homolog (S. cerevisiae) LSm proteins 1505 2006-01-12 2015-07-02 2023-01-20 124801 ENSG00000161654 OTTHUMG00000181804 uc002iev.3 BC044587 NM_152344 "CCDS11475|CCDS92334" Q3MHD2 15225602 MGI:1919592 RGD:1309441 611793 HGNC:26407 "ENST00000293406.8|NM_001371445.1" +HGNC:26407 LSM12 LSM12 homolog protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ30656 LSM12 homolog (S. cerevisiae) LSm proteins 1505 2006-01-12 2015-07-02 2023-01-20 124801 ENSG00000161654 OTTHUMG00000181804 uc002iev.3 BC044587 NM_152344 "CCDS92334|CCDS11475" Q3MHD2 15225602 MGI:1919592 RGD:1309441 611793 HGNC:26407 "ENST00000293406.8|NM_001371445.1" HGNC:32453 LSM12P1 LSM12 pseudogene 1 pseudogene pseudogene Approved 8p12 08p12 LSM12P "LSM12 homolog (S. cerevisiae) pseudogene|LSM12 homolog (S. cerevisiae) pseudogene 1" 2007-08-21 2010-02-25 2013-10-18 2014-11-19 653122 ENSG00000232024 OTTHUMG00000157150 NG_005566 HGNC:32453 -HGNC:24489 LSM14A LSM14A mRNA processing body assembly factor protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "DKFZP434D1335|RAP55A|RAP55" RNA-associated protein 55 "C19orf13|FAM61A" "chromosome 19 open reading frame 13|family with sequence similarity 61, member A|LSM14 homolog A (SCD6, S. cerevisiae)|LSM14A, mRNA processing body assembly factor" LSm proteins 1505 2004-02-11 2006-01-24 2019-01-25 2023-01-20 26065 ENSG00000257103 OTTHUMG00000180491 uc002nva.5 AL834398 NM_015578 "CCDS46040|CCDS12435|CCDS92582" Q8ND56 "15225602|22745163" MGI:1914320 RGD:1305695 610677 HGNC:24489 "ENST00000544216.8|NM_015578.4" +HGNC:24489 LSM14A LSM14A mRNA processing body assembly factor protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "DKFZP434D1335|RAP55A|RAP55" RNA-associated protein 55 "C19orf13|FAM61A" "chromosome 19 open reading frame 13|family with sequence similarity 61, member A|LSM14 homolog A (SCD6, S. cerevisiae)|LSM14A, mRNA processing body assembly factor" LSm proteins 1505 2004-02-11 2006-01-24 2019-01-25 2023-01-20 26065 ENSG00000257103 OTTHUMG00000180491 uc002nva.5 AL834398 NM_015578 "CCDS12435|CCDS92582|CCDS46040" Q8ND56 "15225602|22745163" MGI:1914320 RGD:1305695 610677 HGNC:24489 "ENST00000544216.8|NM_015578.4" HGNC:15887 LSM14B LSM family member 14B protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FT005|bA11M20.3|FLJ25473|LSM13|RAP55B" "C20orf40|FAM61B" "chromosome 20 open reading frame 40|family with sequence similarity 61, member B|LSM14 homolog B (SCD6, S. cerevisiae)|LSM14B, SCD6 homolog B (S. cerevisiae)" LSm proteins 1505 2001-06-21 2006-01-24 2015-06-26 2023-01-20 149986 ENSG00000149657 OTTHUMG00000032901 uc010gjy.2 AF172328 NM_144703 CCDS46626 Q9BX40 15225602 MGI:3040677 RGD:1563798 HGNC:15887 "ENST00000279068.11|NM_144703.3" HGNC:22036 LSMEM1 leucine rich single-pass membrane protein 1 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 FLJ39575 C7orf53 "chromosome 7 open reading frame 53|leucine-rich single-pass membrane protein 1" 2007-07-10 2013-03-08 2016-04-04 2023-01-20 286006 ENSG00000181016 OTTHUMG00000155190 uc003vgm.4 AK096894 NM_182597 CCDS5756 Q8N8F7 MGI:2685735 RGD:1587073 HGNC:22036 "ENST00000312849.4|NM_182597.3" HGNC:26781 LSMEM2 leucine rich single-pass membrane protein 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ38608 C3orf45 "chromosome 3 open reading frame 45|leucine-rich single-pass membrane protein 2" 2006-01-13 2013-03-08 2016-04-04 2023-01-20 132228 ENSG00000179564 OTTHUMG00000156938 uc003cyz.4 AK095927 NM_153215 CCDS2814 Q8N112 MGI:3612240 RGD:1589957 HGNC:26781 "ENST00000316436.4|NM_153215.3" @@ -17655,22 +17656,22 @@ HGNC:39717 LSP1P2 LSP1 pseudogene 2 pseudogene pseudogene Approved 3p12.3 03p12. HGNC:39718 LSP1P3 LSP1 pseudogene 3 pseudogene pseudogene Approved 5p13.3 05p13.3 lymphocyte-specific protein 1 pseudogene 3 2011-03-24 2018-05-08 2018-05-08 729862 ENSG00000162685 OTTHUMG00000161933 NR_033961 PGOHUM00000251363 HGNC:39718 HGNC:53915 LSP1P4 LSP1 pseudogene 4 pseudogene pseudogene Approved 2p11.2 02p11.2 2018-06-06 2018-06-06 2018-06-06 2018-06-06 654342 ENSG00000143429 OTTHUMG00000155083 NR_027238 HGNC:53915 HGNC:50697 LSP1P5 LSP1 pseudogene 5 pseudogene pseudogene Approved 1q21.1 01q21.1 2018-06-06 2018-06-06 2018-06-06 2018-06-06 645166 NR_027354 HGNC:50697 -HGNC:29572 LSR lipolysis stimulated lipoprotein receptor protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "LISCH7|ILDR3" "lipolysis-stimulated remnant|immunoglobulin-like domain containing receptor 3|angulin-1" Immunoglobulin like domain containing 594 2005-12-09 2023-01-20 51599 ENSG00000105699 OTTHUMG00000183142 uc002nyl.4 AF130366 NM_015925 "CCDS12450|CCDS12449|CCDS59376|CCDS12451|CCDS92587" Q86X29 10224102 MGI:1927471 RGD:69236 616582 HGNC:29572 "ENST00000605618.6|NM_205834.4" -HGNC:6708 LSS lanosterol synthase protein-coding gene gene with protein product Approved 21q22.3 21q22.3 OSC Oxidosqualene-lanosterol cyclase lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 1998-05-07 2017-01-09 2023-01-20 4047 ENSG00000160285 OTTHUMG00000090633 uc002zij.4 U22526 NM_001001438 "CCDS13733|CCDS54489|CCDS46654" P48449 "7639730|8655142" MGI:1336155 RGD:620955 600909 436871 objectId:2434 5.4.99.7 HGNC:6708 "ENST00000397728.8|NM_002340.6" HGNC:6708 -HGNC:14189 LST1 leukocyte specific transcript 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "LST-1|B144|D6S49E" 2001-03-09 2002-08-09 2023-01-20 7940 ENSG00000204482 OTTHUMG00000031264 uc003nut.4 U00921 NM_001166538 "CCDS54986|CCDS4705|CCDS54985|CCDS54984|CCDS54987|CCDS43450" O00453 "8824804|9367684" MGI:1096324 RGD:620077 109170 HGNC:14189 "ENST00000438075.7|NM_205839.3" +HGNC:29572 LSR lipolysis stimulated lipoprotein receptor protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "LISCH7|ILDR3" "lipolysis-stimulated remnant|immunoglobulin-like domain containing receptor 3|angulin-1" Immunoglobulin like domain containing 594 2005-12-09 2023-01-20 51599 ENSG00000105699 OTTHUMG00000183142 uc002nyl.4 AF130366 NM_015925 "CCDS92587|CCDS12451|CCDS12450|CCDS59376|CCDS12449" Q86X29 10224102 MGI:1927471 RGD:69236 616582 HGNC:29572 "ENST00000605618.6|NM_205834.4" +HGNC:6708 LSS lanosterol synthase protein-coding gene gene with protein product Approved 21q22.3 21q22.3 OSC Oxidosqualene-lanosterol cyclase lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 1998-05-07 2017-01-09 2023-01-20 4047 ENSG00000160285 OTTHUMG00000090633 uc002zij.4 U22526 NM_001001438 "CCDS54489|CCDS13733|CCDS46654" P48449 "7639730|8655142" MGI:1336155 RGD:620955 600909 436871 objectId:2434 5.4.99.7 HGNC:6708 "ENST00000397728.8|NM_002340.6" HGNC:6708 +HGNC:14189 LST1 leukocyte specific transcript 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "LST-1|B144|D6S49E" 2001-03-09 2002-08-09 2023-01-20 7940 ENSG00000204482 OTTHUMG00000031264 uc003nut.4 U00921 NM_001166538 "CCDS4705|CCDS54987|CCDS54986|CCDS54985|CCDS43450|CCDS54984" O00453 "8824804|9367684" MGI:1096324 RGD:620077 109170 HGNC:14189 "ENST00000438075.7|NM_205839.3" HGNC:6709 LTA lymphotoxin alpha protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "TNFSF1|LT" TNF superfamily member 1 TNFB lymphotoxin alpha (TNF superfamily, member 1) Tumor necrosis factor superfamily 781 1986-01-01 2013-05-22 2023-01-20 4049 ENSG00000226979 OTTHUMG00000031135 uc011ioe.3 X01393 NM_000595 CCDS4701 P01374 "2995927|3001529" MGI:104797 RGD:3020 153440 ligandId:5064 HGNC:6709 "ENST00000418386.3|NM_000595.4" -HGNC:6710 LTA4H leukotriene A4 hydrolase protein-coding gene gene with protein product Approved 12q23.1 12q23.1 M1 metallopeptidases 1437 1993-07-29 2023-01-20 4048 ENSG00000111144 OTTHUMG00000170355 uc001ten.3 BC032528 NM_000895 "CCDS58267|CCDS9059|CCDS58266" P09960 7628486 MGI:96836 RGD:1311333 151570 M01.004 objectId:1395 3.3.2.6 HGNC:6710 "ENST00000228740.7|NM_000895.3" +HGNC:6710 LTA4H leukotriene A4 hydrolase protein-coding gene gene with protein product Approved 12q23.1 12q23.1 M1 metallopeptidases 1437 1993-07-29 2023-01-20 4048 ENSG00000111144 OTTHUMG00000170355 uc001ten.3 BC032528 NM_000895 "CCDS9059|CCDS58266|CCDS58267" P09960 7628486 MGI:96836 RGD:1311333 151570 M01.004 objectId:1395 3.3.2.6 HGNC:6710 "ENST00000228740.7|NM_000895.3" HGNC:6711 LTB lymphotoxin beta protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "p33|TNFSF3" TNF superfamily member 3 TNFC Tumor necrosis factor superfamily 781 1995-11-22 2015-11-17 2023-01-20 4050 ENSG00000227507 OTTHUMG00000031136 uc011feg.3 L11015 NM_002341 "CCDS4703|CCDS4704" Q06643 "7916655|1714477" MGI:104796 RGD:1303162 600978 ligandId:5075 HGNC:6711 "ENST00000429299.3|NM_002341.2" HGNC:6713 LTB4R leukotriene B4 receptor protein-coding gene gene with protein product Approved 14q12 14q12 "BLTR|P2Y7|LTB4R1" "P2RY7|GPR16|CMKRL1" Leukotriene receptors 204 1998-09-25 2023-01-20 1241 ENSG00000213903 OTTHUMG00000029346 uc001wos.4 X98356 NM_001143919 CCDS9626 Q15722 "8921391|8702478" MGI:1309472 RGD:620410 601531 objectId:267 HGNC:6713 "ENST00000345363.8|NM_001143919.3" HGNC:19260 LTB4R2 leukotriene B4 receptor 2 protein-coding gene gene with protein product Approved 14q12 14q12 "BLTR2|BLT2|JULF2|NOP9" Leukotriene receptors 204 2002-09-19 2023-01-20 56413 ENSG00000213906 OTTHUMG00000186500 uc001wor.4 AB008193 NM_001164692 CCDS9625 Q9NPC1 "11006272|10934229" MGI:1888501 RGD:621029 605773 objectId:268 HGNC:19260 "ENST00000533293.2|NM_019839.5" -HGNC:6714 LTBP1 latent transforming growth factor beta binding protein 1 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 TGF-beta1-BP-1 Latent transforming growth factor beta binding proteins 628 1993-09-20 2023-01-20 4052 ENSG00000049323 OTTHUMG00000152118 uc021vft.2 NM_206943 "CCDS33177|CCDS54345|CCDS54344|CCDS33178" Q14766 "2350783|11104663" MGI:109151 RGD:68379 150390 HGNC:6714 "ENST00000404816.7|NM_206943.4" +HGNC:6714 LTBP1 latent transforming growth factor beta binding protein 1 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 TGF-beta1-BP-1 Latent transforming growth factor beta binding proteins 628 1993-09-20 2023-01-20 4052 ENSG00000049323 OTTHUMG00000152118 uc021vft.2 NM_206943 "CCDS54345|CCDS54344|CCDS33177|CCDS33178" Q14766 "2350783|11104663" MGI:109151 RGD:68379 150390 HGNC:6714 "ENST00000404816.7|NM_206943.4" HGNC:6715 LTBP2 latent transforming growth factor beta binding protein 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "LTBP3|C14orf141" chromosome 14 open reading frame 141 Latent transforming growth factor beta binding proteins 628 1995-05-11 2001-12-04 2023-01-20 4053 ENSG00000119681 OTTHUMG00000171476 uc001xqa.4 NM_000428 CCDS9831 Q14767 7798248 MGI:99502 RGD:68380 602091 189348 HGNC:6715 "ENST00000261978.9|NM_000428.3" HGNC:6715 -HGNC:6716 LTBP3 latent transforming growth factor beta binding protein 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 LTBP2 Latent transforming growth factor beta binding proteins 628 1995-05-11 2023-01-20 4054 ENSG00000168056 OTTHUMG00000166575 uc001oej.4 AF135960 NM_021070 "CCDS8103|CCDS44647" Q9NS15 7719025 MGI:1101355 RGD:62057 602090 189127 HGNC:6716 "ENST00000301873.11|NM_001130144.3" HGNC:6716 -HGNC:6717 LTBP4 latent transforming growth factor beta binding protein 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "LTBP-4|LTBP-4L|FLJ46318|FLJ90018" Latent transforming growth factor beta binding proteins 628 1998-11-18 2023-01-20 8425 ENSG00000090006 OTTHUMG00000182635 uc032hxp.2 Y13622 NM_003573 "CCDS74369|CCDS74368|CCDS74370" Q8N2S1 "9660815|9271198" MGI:1321395 RGD:1307033 604710 225264 HGNC:6717 "ENST00000396819.8|NM_001042545.2" HGNC:6717 +HGNC:6716 LTBP3 latent transforming growth factor beta binding protein 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 LTBP2 Latent transforming growth factor beta binding proteins 628 1995-05-11 2023-01-20 4054 ENSG00000168056 OTTHUMG00000166575 uc001oej.4 AF135960 NM_021070 "CCDS44647|CCDS8103" Q9NS15 7719025 MGI:1101355 RGD:62057 602090 189127 HGNC:6716 "ENST00000301873.11|NM_001130144.3" HGNC:6716 +HGNC:6717 LTBP4 latent transforming growth factor beta binding protein 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "LTBP-4|LTBP-4L|FLJ46318|FLJ90018" Latent transforming growth factor beta binding proteins 628 1998-11-18 2023-01-20 8425 ENSG00000090006 OTTHUMG00000182635 uc032hxp.2 Y13622 NM_003573 "CCDS74370|CCDS74369|CCDS74368" Q8N2S1 "9660815|9271198" MGI:1321395 RGD:1307033 604710 225264 HGNC:6717 "ENST00000396819.8|NM_001042545.2" HGNC:6717 HGNC:6718 LTBR lymphotoxin beta receptor protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "TNFCR|TNFR-RP|TNFR2-RP|TNF-R-III|TNFRSF3" TNFR superfamily, member 3 D12S370 Tumor necrosis factor receptor superfamily 782 1996-03-12 2015-11-17 2023-01-20 4055 ENSG00000111321 OTTHUMG00000168356 uc001qny.3 L04270 NM_001270987 "CCDS59233|CCDS8544" P36941 "8171323|8486360" MGI:104875 RGD:1309448 600979 objectId:1872 HGNC:6718 "ENST00000228918.9|NM_002342.3" HGNC:6719 LTC4S leukotriene C4 synthase protein-coding gene gene with protein product Approved 5q35.3 05q35.3 MGC33147 1994-11-24 2023-01-20 4056 ENSG00000213316 OTTHUMG00000150314 uc003mko.4 U11552 NM_000897 CCDS34316 Q16873 8052639 MGI:107498 RGD:620677 246530 123313 objectId:1391 4.4.1.20 HGNC:6719 "ENST00000292596.15|NM_145867.2" -HGNC:6720 LTF lactotransferrin protein-coding gene gene with protein product Approved 3p21.31 03p21.31 HLF2 Transferrins 908 2001-06-22 2023-01-20 4057 ENSG00000012223 OTTHUMG00000156325 uc003cpq.5 NM_002343 "CCDS56251|CCDS33747|CCDS82763" P02788 "17476971|3356163" MGI:96837 RGD:1305445 150210 HGNC:6720 "ENST00000231751.9|NM_002343.6" -HGNC:6721 LTK leukocyte receptor tyrosine kinase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 TYK1 leukocyte tyrosine kinase Receptor tyrosine kinases 321 1991-06-28 2008-01-23 2023-01-20 4058 ENSG00000062524 OTTHUMG00000130339 uc001zoa.4 D16105 NM_001135685 "CCDS10078|CCDS10077|CCDS45237" P29376 2320375 MGI:96840 RGD:1309323 151520 objectId:1838 2.7.10.1 HGNC:6721 "ENST00000263800.11|NM_002344.6" +HGNC:6720 LTF lactotransferrin protein-coding gene gene with protein product Approved 3p21.31 03p21.31 HLF2 Transferrins 908 2001-06-22 2023-01-20 4057 ENSG00000012223 OTTHUMG00000156325 uc003cpq.5 NM_002343 "CCDS33747|CCDS56251|CCDS82763" P02788 "17476971|3356163" MGI:96837 RGD:1305445 150210 HGNC:6720 "ENST00000231751.9|NM_002343.6" +HGNC:6721 LTK leukocyte receptor tyrosine kinase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 TYK1 leukocyte tyrosine kinase Receptor tyrosine kinases 321 1991-06-28 2008-01-23 2023-01-20 4058 ENSG00000062524 OTTHUMG00000130339 uc001zoa.4 D16105 NM_001135685 "CCDS10078|CCDS45237|CCDS10077" P29376 2320375 MGI:96840 RGD:1309323 151520 objectId:1838 2.7.10.1 HGNC:6721 "ENST00000263800.11|NM_002344.6" HGNC:13082 LTN1 listerin E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "KIAA0714|FLJ11053|LISTERIN" listerin "C21orf98|C21orf10|ZNF294|RNF160" "chromosome 21 open reading frame 98|zinc finger protein 294|ring finger protein 160" "Ring finger proteins|Armadillo like helical domain containing" "58|1492" 2000-03-15 2010-09-17 2010-09-17 2023-01-20 26046 ENSG00000198862 OTTHUMG00000078803 uc061zjm.1 AK001915 NM_015565 CCDS33527 O94822 "20835226|19196968" MGI:1926163 RGD:1311238 613083 HGNC:13082 "ENST00000361371.10|NM_015565.3" HGNC:17589 LTO1 LTO1 maturation factor of ABCE1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "TAOS1|CIAB1" oral cancer overexpressed protein 1-A ORAOV1 "oral cancer overexpressed 1|LTO1, ABCE1 maturation factor" 2002-04-26 2018-05-17 2019-01-31 2023-01-20 220064 ENSG00000149716 OTTHUMG00000167885 uc001opc.4 NM_153451 CCDS8192 Q8WV07 "12172009|23318452" MGI:1919534 RGD:1304637 607224 HGNC:17589 "ENST00000279147.9|NM_153451.3" HGNC:39203 LTO1P1 LTO1 pseudogene 1 pseudogene pseudogene Approved 4q35.1 04q35.1 ORAOV1P1 oral cancer overexpressed 1 pseudogene 1 2010-11-23 2021-03-24 2021-03-24 2021-03-24 100873907 ENSG00000251008 OTTHUMG00000160357 NG_032235 PGOHUM00000245789 HGNC:39203 @@ -17678,9 +17679,9 @@ HGNC:21173 LTV1 LTV1 ribosome biogenesis factor protein-coding gene gene with pr HGNC:44049 LTV1P1 LTV1 ribosome biogenesis factor pseudogene 1 pseudogene pseudogene Approved 4q27 04q27 LTV1 homolog (S. cerevisiae) pseudogene 1 2012-05-30 2015-06-26 2015-06-26 100289220 ENSG00000250219 OTTHUMG00000161330 NG_022033 PGOHUM00000245680 HGNC:44049 HGNC:51845 LUADT1 lung adenocarcinoma associated transcript 1 non-coding RNA RNA, long non-coding Approved 6q24.3 06q24.3 Long non-coding RNAs with non-systematic symbols 1992 2015-08-21 2018-08-23 106182249 ENSG00000196634 OTTHUMG00000015761 NR_132442 "26291312|29762830" LUADT1 HGNC:51845 HGNC:40992 LUARIS lncRNA upregulator of antiviral response interferon signaling non-coding RNA RNA, long non-coding Approved 7p13 07p13 "lncRNA#32|SCAT6" S-phase cancer-associated transcript 6 Long non-coding RNAs with non-systematic symbols 1992 2017-03-29 2018-08-03 100506895 ENSG00000231638 OTTHUMG00000155206 NR_038276 "27582466|29491376" 618172 HGNC:40992 -HGNC:6723 LUC7L LUC7 like protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "LUC7B1|hLuc7B1|Luc7" "LUC7 (S. cerevisiae)-like|LUC7-like (S. cerevisiae)|LUC7-like" 2000-08-24 2016-03-21 2023-01-20 55692 ENSG00000007392 OTTHUMG00000060730 uc002cgc.2 AY005111 NM_201412 "CCDS32348|CCDS10401|CCDS81921" Q9NQ29 MGI:1914228 RGD:1307542 607782 HGNC:6723 "ENST00000293872.13|NM_201412.3" -HGNC:21608 LUC7L2 LUC7 like 2, pre-mRNA splicing factor protein-coding gene gene with protein product Approved 7q34 07q34 "CGI-74|CGI-59|H_NH0792N18.3|FLJ10657|LUC7B2|hLuc7B2" CGI-74 protein LUC7-like 2 (S. cerevisiae) 2003-07-15 2016-06-13 2023-01-20 51631 ENSG00000146963 OTTHUMG00000185163 uc003vux.5 AF151832 NM_016019 "CCDS59510|CCDS43656|CCDS59085" Q9Y383 17656373 MGI:2183260 RGD:1308651 613056 HGNC:21608 "ENST00000354926.9|NM_016019.5" -HGNC:24309 LUC7L3 LUC7 like 3 pre-mRNA splicing factor protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "LUC7A|CROP|OA48-18|CREAP-1|FLJ11063|CRA|hLuc7A" "cisplatin resistance associated overexpressed protein|CRE-associated protein" "LUC7-like 3 (S. cerevisiae)|LUC7-like 3 pre-mRNA splicing factor" 2009-08-20 2016-03-30 2023-01-20 51747 ENSG00000108848 OTTHUMG00000162257 uc002iss.4 NM_016424 "CCDS11573|CCDS82158" O95232 "10631324|12565863|17726058" MGI:1914934 RGD:1307981 609434 HGNC:24309 "ENST00000505658.6|NM_016424.5" +HGNC:6723 LUC7L LUC7 like protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "LUC7B1|hLuc7B1|Luc7" "LUC7 (S. cerevisiae)-like|LUC7-like (S. cerevisiae)|LUC7-like" 2000-08-24 2016-03-21 2023-01-20 55692 ENSG00000007392 OTTHUMG00000060730 uc002cgc.2 AY005111 NM_201412 "CCDS10401|CCDS81921|CCDS32348" Q9NQ29 MGI:1914228 RGD:1307542 607782 HGNC:6723 "ENST00000293872.13|NM_201412.3" +HGNC:21608 LUC7L2 LUC7 like 2, pre-mRNA splicing factor protein-coding gene gene with protein product Approved 7q34 07q34 "CGI-74|CGI-59|H_NH0792N18.3|FLJ10657|LUC7B2|hLuc7B2" CGI-74 protein LUC7-like 2 (S. cerevisiae) 2003-07-15 2016-06-13 2023-01-20 51631 ENSG00000146963 OTTHUMG00000185163 uc003vux.5 AF151832 NM_016019 "CCDS59085|CCDS43656|CCDS59510" Q9Y383 17656373 MGI:2183260 RGD:1308651 613056 HGNC:21608 "ENST00000354926.9|NM_016019.5" +HGNC:24309 LUC7L3 LUC7 like 3 pre-mRNA splicing factor protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "LUC7A|CROP|OA48-18|CREAP-1|FLJ11063|CRA|hLuc7A" "cisplatin resistance associated overexpressed protein|CRE-associated protein" "LUC7-like 3 (S. cerevisiae)|LUC7-like 3 pre-mRNA splicing factor" 2009-08-20 2016-03-30 2023-01-20 51747 ENSG00000108848 OTTHUMG00000162257 uc002iss.4 NM_016424 "CCDS82158|CCDS11573" O95232 "10631324|12565863|17726058" MGI:1914934 RGD:1307981 609434 HGNC:24309 "ENST00000505658.6|NM_016424.5" HGNC:39790 LUC7L3P1 LUC7 like 3 pre-mRNA splicing factor pseudogene 1 pseudogene pseudogene Approved 13q21.33 13q21.33 LUC7-like 3 (S. cerevisiae) pseudogene 1 2011-03-29 2016-06-27 2016-06-27 100420198 NG_024867 HGNC:39790 HGNC:48498 LUCAT1 lung cancer associated transcript 1 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 "SCAL1|SCAT5" "smoke and cancer associated lncRNA 1|S-phase cancer-associated transcript 7" lung cancer associated transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-18 2018-05-16 2018-08-03 100505994 ENSG00000248323 OTTHUMG00000162611 "BQ232757|AK091866|BF218178" NR_103548 "23672216|28423699|30032137" 618190 lucat1 LUCAT1 HGNC:48498 HGNC:6724 LUM lumican protein-coding gene gene with protein product Approved 12q21.33 12q21.33 SLRR2D lumican proteoglycan LDC Small leucine rich repeat proteoglycans 573 1994-12-19 2023-01-20 4060 ENSG00000139329 OTTHUMG00000170074 uc001tbm.4 BT006707 NM_002345 CCDS9038 P51884 7558030 MGI:109347 RGD:620984 600616 HGNC:6724 "ENST00000266718.5|NM_002345.4" @@ -17706,33 +17707,34 @@ HGNC:13934 LY6G6E lymphocyte antigen 6 family member G6E (pseudogene) pseudogene HGNC:13933 LY6G6F lymphocyte antigen 6 family member G6F protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G6f|NG32" "LY6G6D|C6orf21" "chromosome 6 open reading frame 21|lymphocyte antigen 6 complex, locus G6F" "V-set domain containing|LY6/PLAUR domain containing" "590|1226" 2002-08-05 2008-05-21 2017-01-27 2023-01-20 259215 ENSG00000204424 OTTHUMG00000031252 uc003nwa.2 NM_001003693 CCDS34403 Q5SQ64 12852788 MGI:3616082 RGD:1303333 611404 HGNC:13933 "ENST00000375832.5|NM_001003693.3" HGNC:38821 LY6G6F-LY6G6D LY6G6F-LY6G6D readthrough other readthrough Approved 6p21.33 06p21.33 "MEGT1|MEGT-1|G6F-LY6G6D" megakaryocyte-enhanced gene transcript 1 protein 2019-10-23 2023-01-20 110599563 ENSG00000250641 OTTHUMG00000162247 NM_001353334 CCDS87383 18817541 HGNC:6728 LY6H lymphocyte antigen 6 family member H protein-coding gene gene with protein product Approved 8q24.3 08q24.3 NMLY6 lymphocyte antigen 6 complex, locus H LY6/PLAUR domain containing 1226 1998-06-19 2017-01-27 2023-01-20 4062 ENSG00000176956 OTTHUMG00000154890 uc064qww.1 AB012293 NM_001130478 "CCDS6396|CCDS47926" O94772 9799603 MGI:1346030 RGD:1311896 603625 HGNC:6728 "ENST00000342752.9|NM_001135655.2" -HGNC:24225 LY6K lymphocyte antigen 6 family member K protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "HSJ001348|FLJ35226|CT97" cancer/testis antigen 97 lymphocyte antigen 6 complex, locus K LY6/PLAUR domain containing 1226 2004-11-11 2017-01-27 2023-01-20 54742 ENSG00000160886 OTTHUMG00000164720 uc011ljv.3 AK092545 NM_017527 "CCDS59114|CCDS6385" Q17RY6 12516096 MGI:1923736 RGD:2322953 615093 HGNC:24225 "ENST00000292430.10|NM_017527.4" +HGNC:24225 LY6K lymphocyte antigen 6 family member K protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "HSJ001348|FLJ35226|CT97" cancer/testis antigen 97 lymphocyte antigen 6 complex, locus K LY6/PLAUR domain containing 1226 2004-11-11 2017-01-27 2023-01-20 54742 ENSG00000160886 OTTHUMG00000164720 uc011ljv.3 AK092545 NM_017527 "CCDS6385|CCDS59114" Q17RY6 12516096 MGI:1923736 RGD:2322953 615093 HGNC:24225 "ENST00000292430.10|NM_017527.4" HGNC:52284 LY6L lymphocyte antigen 6 family member L protein-coding gene gene with protein product Approved 8q24.3 08q24.3 lymphocyte antigen 6 complex, locus L LY6/PLAUR domain containing 1226 2016-03-29 2017-01-27 2023-01-20 101928108 ENSG00000261667 OTTHUMG00000173037 NM_001368160 CCDS94350 H3BQJ8 MGI:5313101 RGD:1597652 HGNC:52284 "ENST00000562505.2|NM_001368160.2" -HGNC:54397 LY6S lymphocyte antigen 6 family member S protein-coding gene gene with protein product Approved 8q24.3 08q24.3 2022-04-25 2022-05-17 105375795 ENSG00000291309 NM_001406477 P0DTL4 35440514 RGD:1586182 +HGNC:54397 LY6S lymphocyte antigen 6 family member S protein-coding gene gene with protein product Approved 8q24.3 08q24.3 LY6A LY6/PLAUR domain containing 1226 2022-04-25 2023-06-15 105375795 ENSG00000291309 NM_001406477 P0DTL4 35440514 RGD:1586182 +HGNC:26731 LY6S-AS1 LY6S antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 FLJ37131 "C8orf31|LINC02904" "chromosome 8 open reading frame 31 (putative)|chromosome 8 open reading frame 31|long intergenic non-protein coding RNA 2904" Antisense RNAs 1987 2005-07-18 2023-06-15 2023-06-15 2023-06-15 286122 ENSG00000177335 OTTHUMG00000164771 uc003yxq.2 NR_126398 HGNC:26731 HGNC:6730 LY9 lymphocyte antigen 9 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD229|mLY9|SLAMF3|hly9" "CD molecules|Immunoglobulin like domain containing" "471|594" 1998-06-05 2023-01-20 4063 ENSG00000122224 OTTHUMG00000024007 uc001fwu.5 L42621 NM_002348 "CCDS65696|CCDS30917|CCDS30916|CCDS65695" Q9HBG7 "8537117|7797269" MGI:96885 RGD:1308341 600684 CD229 HGNC:6730 "ENST00000263285.11|NM_002348.4" HGNC:6729 LY75 lymphocyte antigen 75 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "DEC-205|CLEC13B|CD205" "CD molecules|Minor histocompatibility antigens|Scavenger receptors|C-type lectin domain containing" "471|870|1253|1298" 1997-12-17 2023-01-20 4065 ENSG00000054219 OTTHUMG00000132025 uc002ubc.6 AF011333 NM_002349 CCDS2211 O60449 9553150 MGI:106662 RGD:1565962 604524 CD205 HGNC:6729 "ENST00000263636.5|NM_002349.4" HGNC:38828 LY75-CD302 LY75-CD302 readthrough other readthrough Approved 2q24.2 02q24.2 2011-04-19 2023-03-15 100526664 ENSG00000248672 OTTHUMG00000161661 uc002ubb.5 NM_001198759 MGI:106662 HGNC:38828 HGNC:16837 LY86 lymphocyte antigen 86 protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "MD-1|dJ80N2.1" MD-2 related lipid recognition domain containing 2129 2003-02-19 2023-01-20 9450 ENSG00000112799 OTTHUMG00000014190 uc063lqc.1 AF057178 NM_004271 CCDS4498 O95711 9763566 MGI:1321404 RGD:1309936 605241 HGNC:16837 "ENST00000230568.5|NM_004271.4" HGNC:26593 LY86-AS1 LY86 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.1 06p25.1 FLJ33708 "LY86AS|LY86-AS" "LY86 antisense RNA (non-protein coding)|LY86 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-07-08 2010-11-25 2012-08-15 2023-03-15 285780 ENSG00000216863 OTTHUMG00000014192 uc003mww.5 AK091027 NR_026970 31280115 LY86-AS1 HGNC:26593 -HGNC:17156 LY96 lymphocyte antigen 96 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 MD-2 MD-2 related lipid recognition domain containing 2129 2003-02-19 2023-01-20 23643 ENSG00000154589 OTTHUMG00000164504 uc003yad.4 AB018549 NM_015364 "CCDS6216|CCDS56540" Q9Y6Y9 "10359581|11466383" MGI:1341909 RGD:1302993 605243 objectId:2890 HGNC:17156 "ENST00000284818.7|NM_015364.5" +HGNC:17156 LY96 lymphocyte antigen 96 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 MD-2 MD-2 related lipid recognition domain containing 2129 2003-02-19 2023-01-20 23643 ENSG00000154589 OTTHUMG00000164504 uc003yad.4 AB018549 NM_015364 "CCDS56540|CCDS6216" Q9Y6Y9 "10359581|11466383" MGI:1341909 RGD:1302993 605243 objectId:2890 HGNC:17156 "ENST00000284818.7|NM_015364.5" HGNC:26021 LYAR Ly1 antibody reactive protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "ZC2HC2|ZLYAR" cell growth-regulating nucleolar protein Ly1 antibody reactive homolog (mouse) Zinc fingers C2HC-type 66 2007-06-04 2012-12-07 2023-01-20 55646 ENSG00000145220 OTTHUMG00000125477 uc003ght.4 AL136750 NM_017816 CCDS3374 Q9NX58 "11230166|8491376" MGI:107470 RGD:1305352 617684 HGNC:26021 "ENST00000343470.9|NM_017816.3" HGNC:50747 LYARP1 Ly1 antibody reactive pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2014-06-13 2014-06-13 100420968 ENSG00000229560 OTTHUMG00000152954 NG_023577 PGOHUM00000240114 HGNC:50747 HGNC:27014 LYG1 lysozyme g1 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "SALW1939|LYGA1" lysozyme G-like 1 Lysozymes, g-type 1173 2007-06-28 2016-01-12 2023-01-20 129530 ENSG00000144214 OTTHUMG00000130639 uc010yvo.3 BC029126 NM_174898 CCDS2043 Q8N1E2 12574869 MGI:1916791 RGD:1560332 HGNC:27014 "ENST00000308528.9|NM_174898.3" HGNC:29615 LYG2 lysozyme g2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "LYGH|LYGA2" lysozyme G-like 2 Lysozymes, g-type 1173 2007-06-28 2016-01-12 2023-01-20 254773 ENSG00000185674 OTTHUMG00000130643 uc002szw.2 AF323919 NM_175735 CCDS2042 Q86SG7 "8889548|12574869" MGI:2685622 RGD:6496811 616547 HGNC:29615 "ENST00000333017.7|NM_175735.4" HGNC:6734 LYL1 LYL1 basic helix-loop-helix family member protein-coding gene gene with protein product Approved 19p13.13 19p13.13 bHLHa18 "lymphoblastic leukemia derived sequence 1|lymphoblastic leukemia associated hematopoiesis regulator 1" Basic helix-loop-helix proteins 420 1990-03-21 2019-01-22 2023-01-20 4066 ENSG00000104903 OTTHUMG00000180736 uc002mwi.4 NM_005583 CCDS12292 P12980 2752424 MGI:96891 RGD:1359244 LYL1 151440 HGNC:6734 "ENST00000264824.5|NM_005583.5" -HGNC:6735 LYN LYN proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 8q12.1 08q12.1 JTK8 v-yes-1 Yamaguchi sarcoma viral related oncogene homolog "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1986-01-01 2014-06-25 2023-01-20 4067 ENSG00000254087 OTTHUMG00000044345 uc003xsk.5 M16038 NM_002350 "CCDS6162|CCDS47859" P07948 3561390 MGI:96892 RGD:621017 165120 objectId:2060 HGNC:6735 "ENST00000519728.6|NM_002350.4" +HGNC:6735 LYN LYN proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 8q12.1 08q12.1 JTK8 v-yes-1 Yamaguchi sarcoma viral related oncogene homolog "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1986-01-01 2014-06-25 2023-01-20 4067 ENSG00000254087 OTTHUMG00000044345 uc003xsk.5 M16038 NM_002350 "CCDS47859|CCDS6162" P07948 3561390 MGI:96892 RGD:621017 165120 objectId:2060 HGNC:6735 "ENST00000519728.6|NM_002350.4" HGNC:29604 LYNX1 Ly6/neurotoxin 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 SLURP2 LY6/PLAUR domain containing 1226 2004-11-03 2023-01-20 66004 ENSG00000180155 OTTHUMG00000191912 uc033cbo.2 AF321824 NM_177476 CCDS6389 P0DP58 "12573258|10402197" MGI:1345180 RGD:1312017 606110 HGNC:29604 "ENST00000652477.1|NM_177477.4" HGNC:52291 LYNX1-SLURP2 LYNX1-SLURP2 readthrough other readthrough Approved 8q24.3 08q24.3 2017-10-04 2023-03-15 111188157 ENSG00000284505 OTTHUMG00000191911 NM_023946 MGI:1345180 HGNC:52291 -HGNC:28431 LYPD1 LY6/PLAUR domain containing 1 protein-coding gene gene with protein product Approved 2q21.2 02q21.2 MGC29643 LYPDC1 LY6/PLAUR domain containing 1226 2004-11-16 2005-08-30 2023-01-20 116372 ENSG00000150551 OTTHUMG00000153609 uc002ttn.4 AK075487 NM_144586 "CCDS42759|CCDS46416" Q8N2G4 12477932 MGI:1919835 RGD:1549754 610450 HGNC:28431 "ENST00000397463.3|NM_144586.7" +HGNC:28431 LYPD1 LY6/PLAUR domain containing 1 protein-coding gene gene with protein product Approved 2q21.2 02q21.2 MGC29643 LYPDC1 LY6/PLAUR domain containing 1226 2004-11-16 2005-08-30 2023-01-20 116372 ENSG00000150551 OTTHUMG00000153609 uc002ttn.4 AK075487 NM_144586 "CCDS46416|CCDS42759" Q8N2G4 12477932 MGI:1919835 RGD:1549754 610450 HGNC:28431 "ENST00000397463.3|NM_144586.7" HGNC:25215 LYPD2 LY6/PLAUR domain containing 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "RGTR430|UNQ430" LYPDC2 LY6/PLAUR domain containing 1226 2004-11-16 2005-08-30 2023-01-20 137797 ENSG00000197353 OTTHUMG00000164686 uc003ywz.4 AY358432 NM_205545 CCDS6388 Q6UXB3 12975309 MGI:1915561 RGD:1307892 HGNC:25215 "ENST00000359228.4|NM_205545.3" HGNC:24880 LYPD3 LY6/PLAUR domain containing 3 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 C4.4A LY6/PLAUR domain containing 1226 2005-08-30 2023-01-20 27076 ENSG00000124466 OTTHUMG00000182696 uc002owl.2 AF082889 NM_014400 CCDS12620 O95274 "11179665|11245483" MGI:1919684 RGD:69053 609484 HGNC:24880 "ENST00000244333.4|NM_014400.3" -HGNC:28659 LYPD4 LY6/PLAUR domain containing 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MGC42718 LY6/PLAUR domain containing 1226 2005-08-30 2023-01-20 147719 ENSG00000273111 OTTHUMG00000182674 uc032hyg.2 AY358726 NM_173506 "CCDS12587|CCDS77303" Q6UWN0 12975309 MGI:2687054 RGD:1583497 HGNC:28659 "ENST00000609812.6|NM_173506.7" +HGNC:28659 LYPD4 LY6/PLAUR domain containing 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MGC42718 LY6/PLAUR domain containing 1226 2005-08-30 2023-01-20 147719 ENSG00000273111 OTTHUMG00000182674 uc032hyg.2 AY358726 NM_173506 "CCDS77303|CCDS12587" Q6UWN0 12975309 MGI:2687054 RGD:1583497 HGNC:28659 "ENST00000609812.6|NM_173506.7" HGNC:26397 LYPD5 LY6/PLAUR domain containing 5 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ30469 LY6/PLAUR domain containing 1226 2005-08-30 2023-01-20 284348 ENSG00000159871 OTTHUMG00000182781 uc002oxn.5 AK055031 NM_182573 "CCDS46096|CCDS12631" Q6UWN5 12477932 MGI:1924192 RGD:1560355 619618 HGNC:26397 "ENST00000377950.8|NM_001031749.3" HGNC:28751 LYPD6 LY6/PLAUR domain containing 6 protein-coding gene gene with protein product Approved 2q23.2 02q23.2 MGC52057 LY6/PLAUR domain containing 1226 2006-07-17 2023-01-20 130574 ENSG00000187123 OTTHUMG00000131852 uc021vqt.2 BC047013 NM_194317 CCDS2188 Q86Y78 12477932 MGI:2443848 RGD:1587119 613359 HGNC:28751 "ENST00000334166.9|NM_194317.5" HGNC:28751 HGNC:27018 LYPD6B LY6/PLAUR domain containing 6B protein-coding gene gene with protein product Approved 2q23.2 02q23.2 "CT116|LYPD7" cancer/testis antigen 116 LY6/PLAUR domain containing 1226 2008-07-25 2023-01-20 130576 ENSG00000150556 OTTHUMG00000153743 uc002twv.2 NM_177964 "CCDS82519|CCDS46423" Q8NI32 18360792 MGI:1919147 RGD:1562767 HGNC:27018 "ENST00000409642.8|NM_177964.5" HGNC:44208 LYPD8 LY6/PLAUR domain containing 8 protein-coding gene gene with protein product Approved 1q44 01q44 LY6/PLAUR domain containing 1226 2012-07-20 2023-01-20 646627 ENSG00000259823 OTTHUMG00000174833 uc031vuv.2 NM_001085474 CCDS73059 Q6UX82 MGI:1917413 RGD:1586251 617067 HGNC:44208 "ENST00000590317.4|NM_001085474.2" HGNC:53735 LYPD9P LY6/PLAUR domain containing 9, pseudogene pseudogene pseudogene Approved 1q44 01q44 2018-11-23 2018-11-23 101928226 ENSG00000229703 OTTHUMG00000153448 NR_125950 MGI:2685370 RGD:1586225 HGNC:53735 -HGNC:6737 LYPLA1 lysophospholipase 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "LPL1|APT-1" acyl-protein thioesterase 1 lysophospholipase I Depalmitoylases 1749 1999-09-29 2018-10-25 2023-01-20 10434 ENSG00000120992 OTTHUMG00000164313 uc003xry.4 AF081281 NM_001279356 "CCDS6157|CCDS75738|CCDS75739|CCDS64899" O75608 10064899 MGI:1344588 RGD:3025 605599 3.1.1.5 HGNC:6737 "ENST00000316963.8|NM_006330.4" +HGNC:6737 LYPLA1 lysophospholipase 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "LPL1|APT-1" acyl-protein thioesterase 1 lysophospholipase I Depalmitoylases 1749 1999-09-29 2018-10-25 2023-01-20 10434 ENSG00000120992 OTTHUMG00000164313 uc003xry.4 AF081281 NM_001279356 "CCDS64899|CCDS75738|CCDS75739|CCDS6157" O75608 10064899 MGI:1344588 RGD:3025 605599 3.1.1.5 HGNC:6737 "ENST00000316963.8|NM_006330.4" HGNC:44005 LYPLA1P1 LYPLA1 pseudogene 1 pseudogene pseudogene Approved 7q31.32 07q31.32 lysophospholipase I pseudogene 1 2012-05-28 2018-10-25 2018-10-25 100129401 ENSG00000223595 OTTHUMG00000157088 NG_022546 PGOHUM00000232979 HGNC:44005 HGNC:44006 LYPLA1P2 LYPLA1 pseudogene 2 pseudogene pseudogene Approved 4q25 04q25 lysophospholipase I pseudogene 2 2012-05-28 2018-10-25 2018-10-25 391686 ENSG00000251483 OTTHUMG00000161117 NG_022025 PGOHUM00000258174 HGNC:44006 HGNC:44007 LYPLA1P3 LYPLA1 pseudogene 3 pseudogene pseudogene Approved 6q13 06q13 lysophospholipase I pseudogene 3 2012-05-28 2018-10-25 2018-10-25 157713 ENSG00000218350 OTTHUMG00000014999 NG_001063 PGOHUM00000258219 HGNC:44007 @@ -17740,20 +17742,20 @@ HGNC:6738 LYPLA2 lysophospholipase 2 protein-coding gene gene with protein produ HGNC:21069 LYPLA2P1 LYPLA2 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 "dJ570F3.6|APT" LYPLA2L "lysophospholipase 2 like|lysophospholipase II pseudogene 1" 2003-05-23 2018-10-25 2018-10-25 653639 ENSG00000228285 OTTHUMG00000031128 NR_001444 PGOHUM00000243156 HGNC:21069 HGNC:50445 LYPLA2P2 LYPLA2 pseudogene 2 pseudogene pseudogene Approved 19p13.2 19p13.2 lysophospholipase II pseudogene 2 2014-04-29 2018-10-25 2018-10-25 388499 ENSG00000269153 OTTHUMG00000182507 NR_033250 PGOHUM00000234126 HGNC:50445 HGNC:50446 LYPLA2P3 LYPLA2 pseudogene 3 pseudogene pseudogene Approved 9q21.2 09q21.2 lysophospholipase II pseudogene 3 2014-04-29 2018-10-25 2018-10-25 100128790 ENSG00000236604 OTTHUMG00000020049 NG_021664 PGOHUM00000263239 HGNC:50446 -HGNC:20440 LYPLAL1 lysophospholipase like 1 protein-coding gene gene with protein product Approved 1q41 01q41 Q96AV0 lysophospholipase-like 1 2003-02-07 2016-01-21 2023-01-20 127018 ENSG00000143353 OTTHUMG00000037141 uc001hlq.5 BC016711 NM_138794 "CCDS73032|CCDS1522" Q5VWZ2 MGI:2385115 RGD:1311195 616548 HGNC:20440 "ENST00000366928.10|NM_138794.5" +HGNC:20440 LYPLAL1 lysophospholipase like 1 protein-coding gene gene with protein product Approved 1q41 01q41 Q96AV0 lysophospholipase-like 1 2003-02-07 2016-01-21 2023-01-20 127018 ENSG00000143353 OTTHUMG00000037141 uc001hlq.5 BC016711 NM_138794 "CCDS1522|CCDS73032" Q5VWZ2 MGI:2385115 RGD:1311195 616548 HGNC:20440 "ENST00000366928.10|NM_138794.5" HGNC:54054 LYPLAL1-AS1 LYPLAL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2018-09-26 2018-09-26 102723886 ENSG00000228536 NR_135822 HGNC:54054 HGNC:50560 LYPLAL1-DT LYPLAL1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q41 01q41 LYPLAL1-AS1 LYPLAL1 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-05-21 2018-03-23 2018-03-23 2022-08-19 643723 ENSG00000228063 OTTHUMG00000041228 NR_038845 35508613 LYPLAL1-AS1 HGNC:50560 HGNC:25074 LYRM1 LYR motif containing 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 A211C6.1 LYR motif containing 635 2006-08-15 2023-01-20 57149 ENSG00000102897 OTTHUMG00000131554 uc010bwj.5 NM_020424 CCDS10593 O43325 10493829 MGI:1921169 RGD:1563498 614709 HGNC:25074 "ENST00000567954.6|NM_001128302.3" HGNC:25229 LYRM2 LYR motif containing 2 protein-coding gene gene with protein product Approved 6q15 06q15 DJ122O8.2 LYR motif containing 635 2006-08-15 2023-01-20 57226 ENSG00000083099 OTTHUMG00000015203 uc003pnm.4 BC009782 NM_020466 CCDS5023 Q9NU23 12477932 MGI:1917573 RGD:1597334 HGNC:25229 "ENST00000523377.2|NM_020466.5" -HGNC:21365 LYRM4 LYR motif containing 4 protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "CGI-203|ISD11" C6orf149 chromosome 6 open reading frame 149 "LYR motif containing|MicroRNA protein coding host genes|Mitochondrial iron-sulfur assembly components" "635|1691|1853" 2003-06-10 2006-09-19 2006-09-19 2023-01-20 57128 ENSG00000214113 OTTHUMG00000014173 uc003mwp.5 AF258559 NM_020408 "CCDS83061|CCDS4493|CCDS54961|CCDS54962" Q9HD34 23814038 MGI:2683538 RGD:7672286 613311 400605 HGNC:21365 "ENST00000330636.9|NM_020408.6" HGNC:21365 +HGNC:21365 LYRM4 LYR motif containing 4 protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "CGI-203|ISD11" C6orf149 chromosome 6 open reading frame 149 "LYR motif containing|MicroRNA protein coding host genes|Mitochondrial iron-sulfur assembly components" "635|1691|1853" 2003-06-10 2006-09-19 2006-09-19 2023-01-20 57128 ENSG00000214113 OTTHUMG00000014173 uc003mwp.5 AF258559 NM_020408 "CCDS54962|CCDS4493|CCDS54961|CCDS83061" Q9HD34 23814038 MGI:2683538 RGD:7672286 613311 400605 HGNC:21365 "ENST00000330636.9|NM_020408.6" HGNC:21365 HGNC:52055 LYRM4-AS1 LYRM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.1 06p25.1 Antisense RNAs 1987 2015-10-15 2015-10-15 100129461 NR_126015 LYRM4-AS1 HGNC:52055 -HGNC:28072 LYRM7 LYR motif containing 7 protein-coding gene gene with protein product Approved 5q23.3-q31.1 05q23.3-q31.1 "FLJ20796|MZM1L" C5orf31 "chromosome 5 open reading frame 31|Lyrm7 homolog (mouse)" "LYR motif containing|Mitochondrial respiratory chain complex assembly factors" "635|645" 2006-08-15 2006-10-17 2012-10-23 2023-01-20 90624 ENSG00000186687 OTTHUMG00000128994 uc003kvg.2 BC047079 NM_181705 "CCDS78057|CCDS4148" Q5U5X0 23168492 MGI:1922780 RGD:1596391 615831 377496 HGNC:28072 "ENST00000379380.9|NM_181705.4" HGNC:28072 +HGNC:28072 LYRM7 LYR motif containing 7 protein-coding gene gene with protein product Approved 5q23.3-q31.1 05q23.3-q31.1 "FLJ20796|MZM1L" C5orf31 "chromosome 5 open reading frame 31|Lyrm7 homolog (mouse)" "LYR motif containing|Mitochondrial respiratory chain complex assembly factors" "635|645" 2006-08-15 2006-10-17 2012-10-23 2023-01-20 90624 ENSG00000186687 OTTHUMG00000128994 uc003kvg.2 BC047079 NM_181705 "CCDS4148|CCDS78057" Q5U5X0 23168492 MGI:1922780 RGD:1596391 615831 377496 HGNC:28072 "ENST00000379380.9|NM_181705.4" HGNC:28072 HGNC:27314 LYRM9 LYR motif containing 9 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 HSD24 C17orf108 chromosome 17 open reading frame 108 LYR motif containing 635 2009-09-30 2012-10-23 2012-10-23 2023-01-20 201229 ENSG00000232859 OTTHUMG00000132829 uc002gzx.4 BC018092 NM_001076680 CCDS45631 A8MSI8 12477932 MGI:1913524 RGD:1562012 HGNC:27314 "ENST00000379102.8|NM_001076680.3" HGNC:20218 LYSET lysosomal enzyme trafficking factor protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "DKFZP564F1123|GCAF" GNPTAB cleavage and activity factor "C14orf109|TMEM251" "chromosome 14 open reading frame 109|transmembrane protein 251" 2003-01-15 2022-09-09 2022-09-09 2023-01-20 26175 ENSG00000153485 OTTHUMG00000171265 uc001ybk.4 NM_001098621 "CCDS41980|CCDS45158" Q8N6I4 "33252156|36074821|36074822|36096887" MGI:2443862 RGD:1566396 619332 HGNC:20218 "ENST00000415050.3|NM_001098621.4" HGNC:52396 LYSETP1 LYSET pseudogene 1 pseudogene pseudogene Approved 5q14.3 05q14.3 TMEM251P1 transmembrane protein 251 pseudogene 1 2016-09-21 2022-09-09 2022-09-09 2022-09-09 100420909 ENSG00000249514 OTTHUMG00000162666 NG_024610 33252156 PGOHUM00000300666 HGNC:52396 HGNC:32070 LYSMD1 LysM domain containing 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "SB145|MGC35223|RP11-68I18.5" LysM, putative peptidoglycan-binding, domain containing 1 2005-07-15 2016-01-22 2023-01-20 388695 ENSG00000163155 OTTHUMG00000012260 uc001ewy.4 BX647911 NM_212551 "CCDS986|CCDS44218" Q96S90 12477932 MGI:1919409 RGD:1561865 HGNC:32070 "ENST00000368908.10|NM_212551.5" HGNC:28571 LYSMD2 LysM domain containing 2 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 MGC35274 LysM, putative peptidoglycan-binding, domain containing 2 2005-07-15 2016-01-22 2023-01-20 256586 ENSG00000140280 OTTHUMG00000131804 uc002abi.4 AY125955 NM_153374 "CCDS10143|CCDS45259" Q8IV50 12477932 MGI:1917332 RGD:1304585 HGNC:28571 "ENST00000267838.7|NM_153374.3" -HGNC:26969 LYSMD3 LysM domain containing 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 FLJ13542 LysM, putative peptidoglycan-binding, domain containing 3 2005-07-15 2016-01-22 2023-01-20 116068 ENSG00000176018 OTTHUMG00000162667 uc003kjr.5 BX537972 NM_198273 "CCDS68911|CCDS43338" Q7Z3D4 29496999 MGI:1915906 RGD:1308805 HGNC:26969 "ENST00000315948.11|NM_198273.2" +HGNC:26969 LYSMD3 LysM domain containing 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 FLJ13542 LysM, putative peptidoglycan-binding, domain containing 3 2005-07-15 2016-01-22 2023-01-20 116068 ENSG00000176018 OTTHUMG00000162667 uc003kjr.5 BX537972 NM_198273 "CCDS43338|CCDS68911" Q7Z3D4 29496999 MGI:1915906 RGD:1308805 HGNC:26969 "ENST00000315948.11|NM_198273.2" HGNC:26571 LYSMD4 LysM domain containing 4 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 FLJ33008 LysM, putative peptidoglycan-binding, domain containing 4 2005-10-24 2016-01-22 2023-01-20 145748 ENSG00000183060 OTTHUMG00000149853 uc002bvl.5 BC041097 NM_152449 "CCDS66877|CCDS10381|CCDS73788|CCDS66876" Q5XG99 12477932 MGI:1922349 RGD:1592887 HGNC:26571 "ENST00000684762.1|NM_001284417.2" HGNC:1968 LYST lysosomal trafficking regulator protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "CHS|Mauve" CHS1 Chediak-Higashi syndrome 1 "WD repeat domain containing|BEACH domain containing |MicroRNA protein coding host genes" "362|1230|1691" 1996-10-31 2004-12-10 2004-12-09 2023-01-20 1130 ENSG00000143669 OTTHUMG00000040527 uc001hxj.4 U70064 NM_000081 CCDS31062 Q99698 "8717042|8896560" MGI:107448 RGD:621837 "Albinism Database|http://albinismdb.med.umn.edu/|LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)|http://structure.bmc.lu.se/idbase/LYSTbase/|Mutations of the Chediak Higashi Syndrome|http://www.retina-international.org/files/sci-news/chsmut.htm|LRG_143|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_143.xml" 606897 123318 HGNC:1968 "ENST00000389793.7|NM_000081.4" HGNC:1968 HGNC:41320 LYST-AS1 LYST antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 LYST-IT2 LYST intronic transcript 2 (non-protein coding) Antisense RNAs 1987 2011-06-03 2012-11-21 2012-11-21 2014-11-18 100874266 ENSG00000229463 OTTHUMG00000041434 uc057qor.1 LYST-AS1 @@ -17771,7 +17773,7 @@ HGNC:43630 LZTS1-AS1 LZTS1 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:29381 LZTS2 leucine zipper tumor suppressor 2 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "KIAA1813|LAPSER1" leucine zipper, putative tumor suppressor 2 Leucine zipper tumor suppressor family 1314 2004-03-18 2016-07-08 2023-01-20 84445 ENSG00000107816 OTTHUMG00000018914 uc001ksj.4 AB058716 NM_032429 CCDS7507 Q9BRK4 "11347906|11709705|18490357" MGI:2385095 RGD:1359249 610454 HGNC:29381 "ENST00000454422.2|NM_001318100.2" HGNC:30139 LZTS3 leucine zipper tumor suppressor family member 3 protein-coding gene gene with protein product Approved 20p13 20p13 "ProSAPiP1|KIAA0552" ProSAP/Shank-interacting protein 1 Leucine zipper tumor suppressor family 1314 2016-07-08 2016-07-08 2023-01-20 9762 ENSG00000088899 OTTHUMG00000031735 NM_014731 "CCDS63218|CCDS13049" O60299 "16012743|16522626" MGI:2656976 RGD:631327 610484 HGNC:30139 "ENST00000337576.7|NM_001365618.1" HGNC:25183 M1AP meiosis 1 associated protein protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "D6Mm5e|SPATA37" "meiosis 1 arresting protein|spermatogenesis associated 37" C2orf65 chromosome 2 open reading frame 65 2007-12-07 2013-01-16 2013-02-05 2023-01-20 130951 ENSG00000159374 OTTHUMG00000152918 uc002smy.3 NM_138804 "CCDS33229|CCDS62941" Q8TC57 "16881047|23269666" MGI:1315200 RGD:1563842 619098 HGNC:25183 "ENST00000421985.2|NM_001321739.2" -HGNC:6752 M6PR mannose-6-phosphate receptor, cation dependent protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CD-MPR|CD-M6PR" mannose-6-phosphate receptor (cation dependent) MRH domain containing 1233 1989-06-30 2016-03-10 2023-01-20 4074 ENSG00000003056 OTTHUMG00000168276 uc001qvf.4 NM_001207024 "CCDS73440|CCDS8598" P20645 MGI:96904 RGD:1359355 154540 HGNC:6752 "ENST00000000412.8|NM_002355.4" +HGNC:6752 M6PR mannose-6-phosphate receptor, cation dependent protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CD-MPR|CD-M6PR" mannose-6-phosphate receptor (cation dependent) MRH domain containing 1233 1989-06-30 2016-03-10 2023-01-20 4074 ENSG00000003056 OTTHUMG00000168276 uc001qvf.4 NM_001207024 "CCDS8598|CCDS73440" P20645 MGI:96904 RGD:1359355 154540 HGNC:6752 "ENST00000000412.8|NM_002355.4" HGNC:55051 M6PRP1 M6PR pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 100131200 ENSG00000228042 NG_022689 HGNC:6757 MAB21L1 mab-21 like 1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 CAGR1 "mab-21 (C. elegans)-like 1|mab-21-like 1 (C. elegans)" MAB21 family 1882 1996-08-16 2016-04-06 2023-01-20 4081 ENSG00000180660 OTTHUMG00000016723 uc032aca.2 BC028170 NM_005584 CCDS9353 Q13394 8733127 MGI:1333773 RGD:1589984 601280 HGNC:6757 "ENST00000379919.6|NM_005584.5" HGNC:6757 HGNC:6758 MAB21L2 mab-21 like 2 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "mab-21 (C. elegans)-like 2|mab-21-like 2 (C. elegans)" MAB21 family 1882 1999-07-06 2016-04-06 2023-01-20 10586 ENSG00000181541 OTTHUMG00000161442 uc003ilw.4 AF155219 NM_006439 CCDS3774 Q9Y586 MGI:1346022 RGD:1595520 604357 440122 HGNC:6758 "ENST00000317605.6|NM_006439.5" HGNC:6758 @@ -17779,15 +17781,15 @@ HGNC:26787 MAB21L3 mab-21 like 3 protein-coding gene gene with protein product A HGNC:26216 MAB21L4 mab-21 like 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 FLJ22671 C2orf54 chromosome 2 open reading frame 54 MAB21 family 1882 2007-05-02 2018-06-29 2018-06-29 2023-01-20 79919 ENSG00000172478 OTTHUMG00000151906 uc002wae.5 "AK026324|AK056601" "NM_024861|NM_001085437" "CCDS42839|CCDS63187|CCDS42840" Q08AI8 MGI:1919124 RGD:1563692 HGNC:26216 "ENST00000388934.5|NM_001085437.3" HGNC:30215 MACC1 MET transcriptional regulator MACC1 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "7A5|SH3BP4L" metastasis associated in colon cancer 1 2008-10-14 2018-08-15 2023-01-20 346389 ENSG00000183742 OTTHUMG00000128415 uc003sus.5 NM_182762 CCDS5369 Q6ZN28 25738887 MGI:2685113 RGD:1309838 612646 HGNC:30215 "ENST00000400331.10|NM_182762.4" HGNC:41257 MACC1-AS1 MACC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p21.1 07p21.1 MACC1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-23 2012-08-15 2020-01-10 100874041 ENSG00000228598 OTTHUMG00000152534 uc031swo.1 "AI125264|BX114725" NR_046756 "31391063|31822653" MACC1-AS1 HGNC:41257 -HGNC:13664 MACF1 microtubule actin crosslinking factor 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "KIAA0465|ACF7|ABP620|KIAA1251|MACF|FLJ45612|FLJ46776|Lnc-PMIF" "actin cross-linking factor|620 kDa actin binding protein|macrophin 1|trabeculin-alpha|actin cross-linking family protein 7|postulated migration inhibitory factor" KIAA0754 KIAA0754 "EF-hand domain containing|Plakins" "863|939" 2002-01-09 2019-02-11 2023-03-15 23499 ENSG00000127603 OTTHUMG00000007754 uc057ezw.1 AB007934 NM_033044 "CCDS90919|CCDS435" "O94854|Q9UPN3" "7635207|10529403" MGI:108559 RGD:1306057 608271 HGNC:13664 "ENST00000564288.6|NM_001394062.1" HGNC:13664 +HGNC:13664 MACF1 microtubule actin crosslinking factor 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "KIAA0465|ACF7|ABP620|KIAA1251|MACF|FLJ45612|FLJ46776|Lnc-PMIF" "actin cross-linking factor|620 kDa actin binding protein|macrophin 1|trabeculin-alpha|actin cross-linking family protein 7|postulated migration inhibitory factor" KIAA0754 KIAA0754 "EF-hand domain containing|Plakins" "863|939" 2002-01-09 2019-02-11 2023-03-15 23499 ENSG00000127603 OTTHUMG00000007754 uc057ezw.1 AB007934 NM_033044 "CCDS435|CCDS90919" "O94854|Q9UPN3" "7635207|10529403" MGI:108559 RGD:1306057 608271 HGNC:13664 "ENST00000564288.6|NM_001394062.1" HGNC:13664 HGNC:25052 MACIR macrophage immunometabolism regulator protein-coding gene gene with protein product Approved 5q21.1 05q21.1 FLJ25291 UNC119-binding protein C5orf30 chromosome 5 open reading frame 30 2006-08-15 2019-10-31 2019-10-31 2023-01-20 90355 ENSG00000181751 OTTHUMG00000128738 uc003kog.2 NM_033211 CCDS4095 Q96GV9 "22085962|26316022" MGI:1277184 RGD:1562136 616608 HGNC:25052 "ENST00000319933.7|NM_033211.4" -HGNC:25572 MACO1 macoilin 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ10747 TMEM57 "transmembrane protein 57|macoilin" 2005-07-22 2017-10-30 2017-10-30 2023-01-20 55219 ENSG00000204178 OTTHUMG00000003473 uc001bkk.5 AK001609 NM_018202 "CCDS30638|CCDS60034" Q8N5G2 "12459264|15255972|21437263" MGI:1913396 RGD:1561685 610301 HGNC:25572 "ENST00000374343.5|NM_018202.6" +HGNC:25572 MACO1 macoilin 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ10747 TMEM57 "transmembrane protein 57|macoilin" 2005-07-22 2017-10-30 2017-10-30 2023-01-20 55219 ENSG00000204178 OTTHUMG00000003473 uc001bkk.5 AK001609 NM_018202 "CCDS60034|CCDS30638" Q8N5G2 "12459264|15255972|21437263" MGI:1913396 RGD:1561685 610301 HGNC:25572 "ENST00000374343.5|NM_018202.6" HGNC:53963 MACORIS macrophage enriched lincRNA repressor of IFN-gamma signaling non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 macrophage-enriched obesity-associated lincRNA serving as a repressor of IFN-γ signaling Long non-coding RNAs with non-systematic symbols 1992 2018-09-06 2020-05-04 101929951 ENSG00000237797 OTTHUMG00000017910 NR_184023 29133519 HGNC:53963 -HGNC:29598 MACROD1 mono-ADP ribosylhydrolase 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 LRP16 MACRO domain containing 1 Macro domain containing 1693 2007-07-24 2019-01-10 2023-01-20 28992 ENSG00000133315 OTTHUMG00000167843 uc001nyh.4 AF202922 NM_014067 "CCDS91496|CCDS8056" Q9BQ69 "15691879|23474714" MGI:2147583 RGD:628701 610400 HGNC:29598 "ENST00000255681.7|NM_014067.4" -HGNC:16126 MACROD2 mono-ADP ribosylhydrolase 2 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 dJ631M13.5 O-acetyl-ADP-ribose deacetylase MACROD2 C20orf133 "chromosome 20 open reading frame 133|MACRO domain containing 2" Macro domain containing 1693 2001-07-17 2007-07-24 2019-01-10 2023-01-20 140733 ENSG00000172264 OTTHUMG00000031919 uc002wot.4 BC101218 NM_080676 "CCDS93008|CCDS33443|CCDS13120" A1Z1Q3 23474714 MGI:1920149 RGD:1591318 611567 470622 HGNC:16126 "ENST00000684519.1|NM_001351661.2" +HGNC:29598 MACROD1 mono-ADP ribosylhydrolase 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 LRP16 MACRO domain containing 1 Macro domain containing 1693 2007-07-24 2019-01-10 2023-01-20 28992 ENSG00000133315 OTTHUMG00000167843 uc001nyh.4 AF202922 NM_014067 "CCDS8056|CCDS91496" Q9BQ69 "15691879|23474714" MGI:2147583 RGD:628701 610400 HGNC:29598 "ENST00000255681.7|NM_014067.4" +HGNC:16126 MACROD2 mono-ADP ribosylhydrolase 2 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 dJ631M13.5 O-acetyl-ADP-ribose deacetylase MACROD2 C20orf133 "chromosome 20 open reading frame 133|MACRO domain containing 2" Macro domain containing 1693 2001-07-17 2007-07-24 2019-01-10 2023-01-20 140733 ENSG00000172264 OTTHUMG00000031919 uc002wot.4 BC101218 NM_080676 "CCDS33443|CCDS13120|CCDS93008" A1Z1Q3 23474714 MGI:1920149 RGD:1591318 611567 470622 HGNC:16126 "ENST00000684519.1|NM_001351661.2" HGNC:37193 MACROD2-AS1 MACROD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.1 20p12.1 BA318C17.1 NCRNA00186 "non-protein coding RNA 186|MACROD2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-08-18 2011-04-28 2012-08-15 2014-03-12 100379174 ENSG00000235914 OTTHUMG00000031920 uc002woy.6 BX417920 NR_037841 MACROD2-AS1 HGNC:37193 HGNC:16201 MACROD2-IT1 MACROD2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 20p12.1 20p12.1 bA467D7.4 "C20orf68|NCRNA00227" "chromosome 20 open reading frame 68|non-protein coding RNA 227|MACROD2 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2001-07-17 2011-08-11 2015-02-25 2015-02-25 140848 ENSG00000227927 OTTHUMG00000031917 uc032pbl.1 AI026654 NR_104193 MACROD2-IT1 HGNC:16201 -HGNC:4740 MACROH2A1 macroH2A.1 histone protein-coding gene gene with protein product Approved 5q31.1 05q31.1 macroH2A1.2 H2AFY "H2A histone family, member Y|H2A histone family member Y" "Macro domain containing|H2A histones" "1693|1936" 1999-07-22 2019-07-23 2019-07-23 2023-01-20 9555 ENSG00000113648 OTTHUMG00000129141 uc003lam.2 AF054174 NM_004893 "CCDS93784|CCDS4184|CCDS4185|CCDS4183" O75367 "9653160|9714746" MGI:1349392 RGD:621462 610054 HGNC:4740 "ENST00000511689.6|NM_138610.3" HGNC:4740 +HGNC:4740 MACROH2A1 macroH2A.1 histone protein-coding gene gene with protein product Approved 5q31.1 05q31.1 macroH2A1.2 H2AFY "H2A histone family, member Y|H2A histone family member Y" "Macro domain containing|H2A histones" "1693|1936" 1999-07-22 2019-07-23 2019-07-23 2023-01-20 9555 ENSG00000113648 OTTHUMG00000129141 uc003lam.2 AF054174 NM_004893 "CCDS4185|CCDS93784|CCDS4184|CCDS4183" O75367 "9653160|9714746" MGI:1349392 RGD:621462 610054 HGNC:4740 "ENST00000511689.6|NM_138610.3" HGNC:4740 HGNC:14453 MACROH2A2 macroH2A.2 histone protein-coding gene gene with protein product Approved 10q22.1 10q22.1 H2AFY2 "H2A histone family, member Y2|H2A histone family member Y2" "Macro domain containing|H2A histones" "1693|1936" 2001-04-27 2019-07-23 2019-07-23 2023-01-20 55506 ENSG00000099284 OTTHUMG00000018396 uc001jqm.4 AF336304 NM_018649 CCDS7296 Q9P0M6 "11331621|11262398" MGI:3037658 RGD:1561371 616141 HGNC:14453 "ENST00000373255.9|NM_018649.3" HGNC:6762 MAD1L1 mitotic arrest deficient 1 like 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "HsMAD1|TXBP181|MAD1|PIG9|TP53I9" "MAD1 (mitotic arrest deficient, yeast, homolog)-like 1|MAD1 mitotic arrest deficient-like 1 (yeast)|MAD1 mitotic arrest deficient like 1" MicroRNA protein coding host genes 1691 1998-09-07 2017-09-12 2023-01-20 8379 ENSG00000002822 OTTHUMG00000151493 uc003slg.2 U33822 NM_003550 "CCDS78201|CCDS43539" Q9Y6D9 "10049595|9546394" MGI:1341857 RGD:1596881 602686 HGNC:6762 "ENST00000265854.12|NM_001013836.2" HGNC:6763 MAD2L1 mitotic arrest deficient 2 like 1 protein-coding gene gene with protein product Approved 4q27 04q27 "MAD2|HSMAD2" MAD2 (mitotic arrest deficient, yeast, homolog)-like 1 1996-11-14 2017-02-21 2023-01-20 4085 ENSG00000164109 OTTHUMG00000132967 uc003idl.3 U65410 NM_002358 CCDS3715 Q13257 "8824189|9345911" MGI:1860374 RGD:1310889 601467 HGNC:6763 "ENST00000296509.11|NM_002358.4" @@ -17795,13 +17797,13 @@ HGNC:55546 MAD2L1-DT MAD2L1 divergent transcript non-coding RNA RNA, long non-co HGNC:21059 MAD2L1BP MAD2L1 binding protein protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "CMT2|KIAA0110|dJ261G23.1" 2003-06-23 2023-01-20 9587 ENSG00000124688 OTTHUMG00000014747 uc003ovv.4 BC002904 NM_014628 "CCDS4904|CCDS47431" Q15013 "7788527|12456649" MGI:1913841 RGD:1309175 618136 HGNC:21059 "ENST00000372171.5|NM_014628.3" HGNC:20019 MAD2L1P1 mitotic arrest deficient 2 like 1 pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 MAD2L1P MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene 2003-01-13 2010-02-25 2017-02-21 2020-04-07 326596 ENSG00000258445 OTTHUMG00000171291 NG_002592 PGOHUM00000292690 HGNC:20019 HGNC:6764 MAD2L2 mitotic arrest deficient 2 like 2 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "MAD2B|REV7|POLZ2|FANCV" "mitotic arrest deficient homolog-like 2|polymerase (DNA-directed), zeta 2, accessory subunit" MAD2 (mitotic arrest deficient, yeast, homolog)-like 2 "DNA polymerases|FA complementation groups" "535|548" 1999-06-22 2017-02-21 2023-01-20 10459 ENSG00000116670 OTTHUMG00000002231 uc001asq.5 AF139365 NM_006341 CCDS134 Q9UI95 "10366450|27500492" MGI:1919140 RGD:1307499 Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi 604094 477480 HGNC:6764 "ENST00000376692.9|NM_006341.4" HGNC:6764 -HGNC:6765 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MACAM1 mucosal addressin cell adhesion molecule-1 "Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "594|1410" 2000-02-11 2023-01-20 8174 ENSG00000099866 OTTHUMG00000180548 uc002los.5 U43628 NM_130760 "CCDS12028|CCDS12029" Q13477 "9162097|8609404" MGI:103579 RGD:3029 102670 ligandId:9339 HGNC:6765 "ENST00000215637.8|NM_130760.3" +HGNC:6765 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MACAM1 mucosal addressin cell adhesion molecule-1 "Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "594|1410" 2000-02-11 2023-01-20 8174 ENSG00000099866 OTTHUMG00000180548 uc002los.5 U43628 NM_130760 "CCDS12029|CCDS12028" Q13477 "9162097|8609404" MGI:103579 RGD:3029 102670 ligandId:9339 HGNC:6765 "ENST00000215637.8|NM_130760.3" HGNC:55315 MADCAM1-AS1 MADCAM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Antisense RNAs 1987 2020-10-19 2020-10-19 105372232 ENSG00000266933 XR_007067073 -HGNC:6766 MADD MAP kinase activating death domain protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DENN|KIAA0358|RAB3GEP|IG20" "differentially expressed in normal and neoplastic cells|Insuloma-Glucagonoma protein 20" MAP-kinase activating death domain DENN domain containing 504 1999-12-17 2016-01-19 2023-01-20 8567 ENSG00000110514 OTTHUMG00000150350 uc001ner.2 AB002356 NM_001135943 "CCDS44590|CCDS7930|CCDS41642|CCDS44587|CCDS44589|CCDS7931|CCDS7932|CCDS44588|CCDS44586" Q8WXG6 "9115275|9796103" MGI:2444672 RGD:619922 603584 HGNC:6766 HGNC:6766 +HGNC:6766 MADD MAP kinase activating death domain protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DENN|KIAA0358|RAB3GEP|IG20" "differentially expressed in normal and neoplastic cells|Insuloma-Glucagonoma protein 20" MAP-kinase activating death domain DENN domain containing 504 1999-12-17 2016-01-19 2023-01-20 8567 ENSG00000110514 OTTHUMG00000150350 uc001ner.2 AB002356 NM_001135943 "CCDS7931|CCDS44589|CCDS44586|CCDS44587|CCDS44590|CCDS41642|CCDS7930|CCDS7932|CCDS44588" Q8WXG6 "9115275|9796103" MGI:2444672 RGD:619922 603584 HGNC:6766 HGNC:6766 HGNC:40354 MADD-AS1 MADD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Antisense RNAs 1987 2019-08-16 2019-08-16 101928943 ENSG00000256746 OTTHUMG00000167884 NR_120568 HGNC:40354 -HGNC:13731 MAEA macrophage erythroblast attacher, E3 ubiquitin ligase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "EMP|GID9|p44EMLP|HLC-10" GID complex subunit 9, FYV10 homolog (S. cerevisiae) CTLH complex 1561 2000-11-07 2020-03-13 2023-01-20 10296 ENSG00000090316 OTTHUMG00000160169 uc003gda.4 AF084928 NM_005882 "CCDS77887|CCDS75090|CCDS33936|CCDS33937|CCDS77888" Q7L5Y9 9763581 MGI:1891748 RGD:1309877 606801 HGNC:13731 "ENST00000303400.9|NM_001017405.3" -HGNC:25929 MAEL maelstrom spermatogenic transposon silencer protein-coding gene gene with protein product Approved 1q24.1 01q24.1 "FLJ14904|CT128|SPATA35" "cancer/testis antigen 128|spermatogenesis associated 35" maelstrom homolog (Drosophila) 2005-06-30 2012-12-18 2023-01-20 84944 ENSG00000143194 OTTHUMG00000034432 uc001gdy.3 "AK027810|DQ076156" NM_032858 "CCDS72975|CCDS1257|CCDS65712" Q96JY0 "19693694|18694567" MGI:2138453 RGD:1309333 611368 HGNC:25929 "ENST00000367872.9|NM_032858.3" -HGNC:6776 MAF MAF bZIP transcription factor protein-coding gene gene with protein product Approved 16q23.2 16q23.2 c-MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog Basic leucine zipper proteins 506 1991-08-01 2016-05-10 2023-01-20 4094 ENSG00000178573 OTTHUMG00000137621 uc002ffm.4 NM_001031804 "CCDS42198|CCDS10928" O75444 14998484 MGI:96909 RGD:3034 MAF 177075 140567 HGNC:6776 "ENST00000326043.5|NM_005360.5" HGNC:6776 +HGNC:13731 MAEA macrophage erythroblast attacher, E3 ubiquitin ligase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "EMP|GID9|p44EMLP|HLC-10" GID complex subunit 9, FYV10 homolog (S. cerevisiae) CTLH complex 1561 2000-11-07 2020-03-13 2023-01-20 10296 ENSG00000090316 OTTHUMG00000160169 uc003gda.4 AF084928 NM_005882 "CCDS75090|CCDS33936|CCDS77888|CCDS33937|CCDS77887" Q7L5Y9 9763581 MGI:1891748 RGD:1309877 606801 HGNC:13731 "ENST00000303400.9|NM_001017405.3" +HGNC:25929 MAEL maelstrom spermatogenic transposon silencer protein-coding gene gene with protein product Approved 1q24.1 01q24.1 "FLJ14904|CT128|SPATA35" "cancer/testis antigen 128|spermatogenesis associated 35" maelstrom homolog (Drosophila) 2005-06-30 2012-12-18 2023-01-20 84944 ENSG00000143194 OTTHUMG00000034432 uc001gdy.3 "AK027810|DQ076156" NM_032858 "CCDS72975|CCDS65712|CCDS1257" Q96JY0 "19693694|18694567" MGI:2138453 RGD:1309333 611368 HGNC:25929 "ENST00000367872.9|NM_032858.3" +HGNC:6776 MAF MAF bZIP transcription factor protein-coding gene gene with protein product Approved 16q23.2 16q23.2 c-MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog Basic leucine zipper proteins 506 1991-08-01 2016-05-10 2023-01-20 4094 ENSG00000178573 OTTHUMG00000137621 uc002ffm.4 NM_001031804 "CCDS10928|CCDS42198" O75444 14998484 MGI:96909 RGD:3034 MAF 177075 140567 HGNC:6776 "ENST00000326043.5|NM_005360.5" HGNC:6776 HGNC:24966 MAF1 MAF1 homolog, negative regulator of RNA polymerase III protein-coding gene gene with protein product Approved 8q24.3 08q24.3 DKFZp586G1123 MAF1 homolog (S. cerevisiae) 2005-05-13 2015-07-02 2023-01-20 84232 ENSG00000179632 OTTHUMG00000165244 uc003zbc.2 NM_032272 CCDS6416 Q9H063 "11230166|11438659" MGI:1916127 RGD:1359315 610210 HGNC:24966 "ENST00000322428.10|NM_032272.5" HGNC:56527 MAF1P1 MAF1 pseudogene 1 pseudogene pseudogene Approved 3q22.1 03q22.1 2022-10-28 2022-10-28 391578 ENSG00000214301 NG_022273 PGOHUM00000299598 HGNC:23145 MAFA MAF bZIP transcription factor A protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "RIPE3b1|hMafA" RIPE3b1 activator v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A Basic leucine zipper proteins 506 2004-01-30 2016-05-10 2023-01-20 389692 ENSG00000182759 OTTHUMG00000165037 uc003yyc.3 AY083269 NM_201589 CCDS34955 Q8NHW3 12011435 MGI:2673307 RGD:1562627 610303 HGNC:23145 "ENST00000333480.3|NM_201589.4" @@ -17809,11 +17811,11 @@ HGNC:51203 MAFA-AS1 MAFA antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:6408 MAFB MAF bZIP transcription factor B protein-coding gene gene with protein product Approved 20q12 20q12 KRML "Kreisler (mouse) maf-related leucine zipper homolog|v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B" Basic leucine zipper proteins 506 1999-05-05 2001-11-30 2016-05-10 2023-01-20 9935 ENSG00000204103 OTTHUMG00000033052 uc002xji.4 AF134157 NM_005461 CCDS13311 Q9Y5Q3 10444328 MGI:104555 RGD:2982 MAFB 608968 293867 HGNC:6408 "ENST00000373313.3|NM_005461.5" HGNC:6408 HGNC:6780 MAFF MAF bZIP transcription factor F protein-coding gene gene with protein product Approved 22q13.1 22q13.1 hMafF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F Basic leucine zipper proteins 506 1999-10-29 2016-05-10 2023-01-20 23764 ENSG00000185022 OTTHUMG00000151163 uc003avc.4 AJ010857 NM_001161572 "CCDS54528|CCDS13968" Q9ULX9 10591208 MGI:96910 RGD:1309531 604877 HGNC:6780 "ENST00000338483.7|NM_012323.4" HGNC:6781 MAFG MAF bZIP transcription factor G protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC13090|MGC20149" "transcription factor MafG|basic leucine zipper transcription factor MafG" v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G Basic leucine zipper proteins 506 1997-07-22 2016-05-10 2023-01-20 4097 ENSG00000197063 OTTHUMG00000177958 uc002kcn.4 AF059195 NM_002359 CCDS11793 O15525 9763667 MGI:96911 RGD:619953 602020 HGNC:6781 "ENST00000357736.9|NM_002359.4" -HGNC:56705 MAFG-AS1 MAFG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 2023-01-19 2023-01-19 128385369 ENSG00000264769 +HGNC:56705 MAFG-AS1 MAFG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Antisense RNAs 1987 2023-01-19 2023-01-19 128385369 ENSG00000264769 HGNC:31102 MAFIP MAFF interacting protein other unknown Approved 14 unplaced 14 unplaced "FLJ35473|FLJ00219|FLJ39633|MIP|pp5644|TEKT4P4" tektin 4 pseudogene 4 "MAFF interacting protein|MAFF interacting protein (pseudogene)" 2009-02-18 2023-04-20 2023-04-20 727764 ENSG00000274847 OTTHUMG00000188065 "AK074146|AF289559" NR_046439 Q8WZ33 "16549056|15881666" HGNC:6782 MAFK MAF bZIP transcription factor K protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "P18|NFE2U" "basic-leucine zipper transcription factor MafK|erythroid transcription factor NF-E2 p18 subunit|nuclear factor erythroid-2, ubiquitous (p18)" v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K Basic leucine zipper proteins 506 1998-06-24 2016-05-10 2023-01-20 7975 ENSG00000198517 OTTHUMG00000151453 uc003skr.4 AF059194 NM_002360 CCDS5325 O60675 9763667 MGI:99951 RGD:628633 600197 HGNC:6782 "ENST00000343242.9|NM_002360.4" HGNC:51525 MAFTRR MAF transcriptional regulator RNA non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 linc-MAF-4 Long non-coding RNAs with non-systematic symbols 1992 2015-02-18 2015-02-18 102467146 ENSG00000261390 OTTHUMG00000176976 NR_104663 25621826 616264 MAFTRR HGNC:51525 -HGNC:6783 MAG myelin associated glycoprotein protein-coding gene gene with protein product Approved 19q13.1 19q13.1 "SIGLEC4A|SIGLEC-4A|S-MAG" sialic acid binding Ig-like lectin 4A GMA "C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "592|593|745" 2001-06-22 2023-01-20 4099 ENSG00000105695 OTTHUMG00000183296 uc002nyy.3 M29273 NM_080600 "CCDS12456|CCDS56090|CCDS12455" P20916 "2476987|8432525" MGI:96912 RGD:3035 159460 460860 HGNC:6783 "ENST00000392213.8|NM_002361.4" HGNC:6783 +HGNC:6783 MAG myelin associated glycoprotein protein-coding gene gene with protein product Approved 19q13.1 19q13.1 "SIGLEC4A|SIGLEC-4A|S-MAG" sialic acid binding Ig-like lectin 4A GMA "C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "592|593|745" 2001-06-22 2023-01-20 4099 ENSG00000105695 OTTHUMG00000183296 uc002nyy.3 M29273 NM_080600 "CCDS12455|CCDS12456|CCDS56090" P20916 "2476987|8432525" MGI:96912 RGD:3035 159460 460860 HGNC:6783 "ENST00000392213.8|NM_002361.4" HGNC:6783 HGNC:6796 MAGEA1 MAGE family member A1 protein-coding gene gene with protein product Approved Xq28 Xq28 "MGC9326|CT1.1" "melanoma-associated antigen 1|melanoma-associated antigen MZ2-E|melanoma antigen MAGE-1|melanoma antigen family A 1|cancer/testis antigen family 1, member 1" MAGE1 "melanoma antigen family A, 1 (directs expression of antigen MZ2-E)|melanoma antigen family A1" MAGE family 1136 1994-04-04 2015-11-13 2023-01-20 4100 ENSG00000198681 OTTHUMG00000024192 uc004fhf.3 NM_004988 CCDS76051 P43355 "1840703|25590999" "MGI:1333827|MGI:1333832|MGI:1333838|MGI:1917946|MGI:1921529" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEA1 300016 HGNC:6796 "ENST00000356661.7|NM_004988.5" HGNC:6800 MAGEA2 MAGE family member A2 protein-coding gene gene with protein product Approved Xq28 Xq28 "MAGEA2A|CT1.2" cancer/testis antigen family 1, member 2 MAGE2 melanoma antigen family A2 MAGE family 1136 1994-04-04 2015-11-13 2023-01-20 4101 ENSG00000268606 OTTHUMG00000188622 uc010ntr.2 BC063681 NM_005361 CCDS76049 P43356 "1840703|8575766" "MGI:1333793|MGI:1333832|MGI:1333838|MGI:1333839|MGI:3588211" 300173 HGNC:6800 "ENST00000684311.1|NM_001386130.2" HGNC:19340 MAGEA2B MAGE family member A2B protein-coding gene gene with protein product Approved Xq28 Xq28 "MAGE2|MGC16973|MAGEA2" melanoma antigen family A2B MAGE family 1136 2004-06-08 2015-11-13 2023-01-20 266740 ENSG00000183305 OTTHUMG00000022645 uc010ntm.3 BC013098 NM_153488 CCDS76046 P43356 8575766 "MGI:1333793|MGI:1333832|MGI:1333838|MGI:1333839|MGI:3588211" 300549 HGNC:19340 "ENST00000682532.1|NM_001386132.1" @@ -17832,7 +17834,7 @@ HGNC:31909 MAGEA9B MAGE family member A9B protein-coding gene gene with protein HGNC:6797 MAGEA10 MAGE family member A10 protein-coding gene gene with protein product Approved Xq28 Xq28 "MGC10599|CT1.10" "MAGE-10 antigen|melanoma-associated antigen 10|cancer/testis antigen family 1, member 10" MAGE10 melanoma antigen family A10 MAGE family 1136 1994-04-04 2015-11-13 2023-01-20 4109 ENSG00000124260 OTTHUMG00000024180 uc004ffk.4 NM_021048 CCDS14705 P43363 8575766 "MGI:1333793|MGI:1333827|MGI:1333832|MGI:1333834|MGI:1333837|MGI:1333838|MGI:1333839|MGI:1917946|MGI:1921529|MGI:3588211" RGD:1563693 300343 HGNC:6797 "ENST00000370323.9|NM_021048.5" HGNC:6798 MAGEA11 MAGE family member A11 protein-coding gene gene with protein product Approved Xq28 Xq28 "MAGE-11|MAGEA-11|MGC10511|CT1.11" "MAGE-11 antigen|melanoma-associated antigen 11|cancer/testis antigen family 1, member 11" MAGE11 melanoma antigen family A11 MAGE family 1136 1994-04-04 2015-11-13 2023-01-20 4110 ENSG00000185247 OTTHUMG00000022633 uc004fdq.4 NM_005366 "CCDS48180|CCDS94721" P43364 8575766 "MGI:1333827|MGI:1333832|MGI:1333838|MGI:1333839" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEA11 300344 HGNC:6798 "ENST00000355220.6|NM_005366.5" HGNC:6799 MAGEA12 MAGE family member A12 protein-coding gene gene with protein product Approved Xq28 Xq28 CT1.12 cancer/testis antigen family 1, member 12 MAGE12 melanoma antigen family A12 MAGE family 1136 1994-04-04 2015-11-13 2023-01-20 4111 ENSG00000213401 OTTHUMG00000022650 uc004fgc.3 NM_005367 CCDS76048 P43365 8575766 "MGI:1333793|MGI:1333832|MGI:1333838|MGI:1333839|MGI:3588211" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEA12 300177 HGNC:6799 "ENST00000393869.8|NM_001166387.4" -HGNC:35154 MAGEA13P MAGE family member A13, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 LOC139363 melanoma antigen family A13, pseudogene MAGE family 1136 2008-10-15 2015-11-13 2020-08-06 139363 ENSG00000183981 OTTHUMG00000022527 XR_040398 A6NCF6 MGI:1922602 PGOHUM00000305357 HGNC:35154 +HGNC:35154 MAGEA13P MAGE family member A13, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 LOC139363 melanoma antigen family A13, pseudogene MAGE family 1136 2008-10-15 2015-11-13 2020-08-06 139363 ENSG00000183981 OTTHUMG00000022527 XR_040398 A6NCF6 MGI:1922602 RGD:1359246 PGOHUM00000305357 HGNC:35154 HGNC:6808 MAGEB1 MAGE family member B1 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 "MAGEL1|MAGE-Xp|DAM10|MGC9322|CT3.1" "DSS/AHC critical interval MAGE superfamily 10|cancer/testis antigen family 3, member 1" melanoma antigen family B1 MAGE family 1136 1997-08-15 2015-11-13 2023-01-20 4112 ENSG00000214107 OTTHUMG00000021322 uc004dcc.4 NM_002363 CCDS14222 P43366 "7761436|9441743" "MGI:105109|MGI:105117|MGI:105118|MGI:2148568" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB1 300097 HGNC:6808 "ENST00000397548.4|NM_177404.3" HGNC:6809 MAGEB2 MAGE family member B2 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 "DAM6|MAGE-XP-2|MGC26438|CT3.2" "DSS/AHC critical interval MAGE superfamily 6|melanoma-associated antigen B2|cancer/testis antigen family 3, member 2" melanoma antigen family B2 MAGE family 1136 1997-08-15 2015-11-13 2023-01-20 4113 ENSG00000099399 OTTHUMG00000021319 uc004dbz.4 AF015766 NM_002364 CCDS14219 O15479 9441743 MGI:2148568 RGD:1560904 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB2 300098 HGNC:6809 "ENST00000378988.5|NM_002364.5" HGNC:6810 MAGEB3 MAGE family member B3 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 CT3.5 cancer/testis antigen family 3, member 5 melanoma antigen family B3 MAGE family 1136 1997-08-15 2015-11-13 2023-01-20 4114 ENSG00000198798 OTTHUMG00000021320 uc004dca.3 AK057441 NM_002365 CCDS14220 O15480 9441743 RGD:1562343 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB3 300152 HGNC:6810 "ENST00000361644.4|NM_002365.5" @@ -17840,7 +17842,7 @@ HGNC:6811 MAGEB4 MAGE family member B4 protein-coding gene gene with protein pro HGNC:23795 MAGEB5 MAGE family member B5 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 "MAGE-B5|CT3.3" cancer/testis antigen family 3, member 3 melanoma antigen family B5 MAGE family 1136 2003-12-10 2015-11-13 2023-01-20 347541 ENSG00000188408 OTTHUMG00000021288 uc031thc.1 AF333705 NM_001271752 CCDS65233 Q9BZ81 10861452 "MGI:2148169|MGI:3712084" RGD:1563078 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB5 300466 HGNC:23795 "ENST00000602297.1|NM_001271752.1" HGNC:23796 MAGEB6 MAGE family member B6 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 "FLJ40242|MAGE-B6|MAGEB6A|CT3.4" cancer/testis antigen family 3, member 4 melanoma antigen family B6 MAGE family 1136 2003-12-10 2015-11-13 2023-01-20 158809 ENSG00000176746 OTTHUMG00000021285 uc004dbr.3 AF320514 NM_173523 CCDS14217 Q8N7X4 10861452 "MGI:105109|MGI:105117|MGI:3643982|MGI:3646464" RGD:1565662 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB6 300467 HGNC:23796 "ENST00000379034.1|NM_173523.2" HGNC:28824 MAGEB6B MAGE family member B6B protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 MAGEB6P1 "melanoma antigen family B, 6B|melanoma antigen family B, 6B pseudogene|melanoma antigen family B6 pseudogene 1|MAGE family member B6 pseudogene 1" 2004-08-09 2017-11-30 2017-11-30 2023-01-20 392433 ENSG00000232030 OTTHUMG00000021284 uc284raa.1 NG_008389 CCDS94582 A0A0J9YX57 "MGI:105109|MGI:105117|MGI:3643982|MGI:3646464" RGD:1561997 PGOHUM00000241672 HGNC:28824 "ENST00000416929.3|NM_001396029.1" -HGNC:25377 MAGEB10 MAGE family member B10 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 FLJ32965 melanoma antigen family B10 MAGE family 1136 2004-09-01 2015-11-13 2023-01-20 139422 ENSG00000177689 OTTHUMG00000046084 uc004dbw.3 NM_182506 CCDS35221 Q96LZ2 11454705 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB10 300761 HGNC:25377 "ENST00000356790.2|NM_182506.3" +HGNC:25377 MAGEB10 MAGE family member B10 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 FLJ32965 melanoma antigen family B10 MAGE family 1136 2004-09-01 2015-11-13 2023-01-20 139422 ENSG00000177689 OTTHUMG00000046084 uc004dbw.3 NM_182506 CCDS35221 Q96LZ2 11454705 RGD:7571422 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB10 300761 HGNC:25377 "ENST00000356790.2|NM_182506.3" HGNC:21188 MAGEB16 MAGE family member B16 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 "melanoma antigen family B, 16 (pseudogene)|melanoma antigen family B16" MAGE family 1136 2005-01-26 2015-11-13 2023-01-20 139604 ENSG00000189023 OTTHUMG00000021348 uc010ngt.1 NM_001099921 CCDS43927 A2A368 11454705 MGI:1919217 RGD:1562365 300762 HGNC:21188 "ENST00000399988.6|NM_001370158.1" HGNC:17418 MAGEB17 MAGE family member B17 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "melanoma antigen family B, 17 (pseudogene)|melanoma antigen family B17" MAGE family 1136 2005-01-26 2015-11-13 2023-01-20 645864 ENSG00000182798 OTTHUMG00000021188 uc031tgu.2 NM_001277307 CCDS59524 A8MXT2 11454705 "MGI:3643982|MGI:3645128" 300763 HGNC:17418 "ENST00000400004.6|NM_001277307.2" HGNC:56739 MAGEB17-AS1 MAGEB17 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 lnc-AP1S2-2 Antisense RNAs 1987 2023-02-02 2023-02-02 128667223 ENSG00000238178 33672425 @@ -17848,16 +17850,16 @@ HGNC:28515 MAGEB18 MAGE family member B18 protein-coding gene gene with protein HGNC:6812 MAGEC1 MAGE family member C1 protein-coding gene gene with protein product Approved Xq27.2 Xq27.2 "MAGE-C1|CT7|MGC39366|CT7.1" cancer/testis antigen family 7, member 1 melanoma antigen family C1 MAGE family 1136 1999-04-23 2015-11-13 2023-01-20 9947 ENSG00000155495 OTTHUMG00000022569 uc004fbt.4 AF064589 NM_005462 CCDS35417 O60732 "9485030|9618514" MGI:1921687 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEC1 300223 HGNC:6812 "ENST00000285879.5|NM_005462.5" HGNC:13574 MAGEC2 MAGE family member C2 protein-coding gene gene with protein product Approved Xq27.2 Xq27.2 "CT10|MAGE-C2|HCA587" cancer/testis antigen 10 MAGEE1 "melanoma antigen, family E, 1, cancer/testis specific|melanoma antigen family C2" MAGE family 1136 2000-09-26 2004-06-09 2015-11-13 2023-01-20 51438 ENSG00000046774 OTTHUMG00000022574 uc004fbu.3 AF116195 NM_016249 CCDS14678 Q9UBF1 "10699956|20864041" MGI:1921687 RGD:1563272 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEC2 300468 HGNC:13574 "ENST00000247452.4|NM_016249.4" HGNC:23798 MAGEC3 MAGE family member C3 protein-coding gene gene with protein product Approved Xq27.2 Xq27.2 "HCA2|MAGE-C3|CT7.2" cancer/testis antigen family 7, member 2 melanoma antigen family C3 MAGE family 1136 2003-12-10 2015-11-13 2023-01-20 139081 ENSG00000165509 OTTHUMG00000022570 uc011mwp.2 AF490508 NM_138702 "CCDS14676|CCDS14677" Q8TD91 10861452 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEC3 300469 HGNC:23798 "ENST00000298296.1|NM_138702.1" -HGNC:6813 MAGED1 MAGE family member D1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "NRAGE|DLXIN-1" melanoma antigen family D1 MAGE family 1136 1999-04-14 2015-11-13 2023-01-20 9500 ENSG00000179222 OTTHUMG00000021540 uc004dpm.5 AF124440 NM_001005332 "CCDS14337|CCDS35279" Q9Y5V3 10409427 MGI:1930187 RGD:70898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGED1 300224 HGNC:6813 "ENST00000326587.12|NM_006986.4" +HGNC:6813 MAGED1 MAGE family member D1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "NRAGE|DLXIN-1" melanoma antigen family D1 MAGE family 1136 1999-04-14 2015-11-13 2023-01-20 9500 ENSG00000179222 OTTHUMG00000021540 uc004dpm.5 AF124440 NM_001005332 "CCDS35279|CCDS14337" Q9Y5V3 10409427 MGI:1930187 RGD:70898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGED1 300224 HGNC:6813 "ENST00000326587.12|NM_006986.4" HGNC:16353 MAGED2 MAGE family member D2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "JCL-1|BCG1|11B6|MAGE-D2|HCA10|MAGED|MGC8386" "hepatocellular carcinoma associated protein|breast cancer associated gene 1|melanoma-associated antigen D2|hepatocellular carcinoma-associated protein HCA10" melanoma antigen family D2 "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 2001-08-16 2015-11-13 2023-01-20 10916 ENSG00000102316 OTTHUMG00000021638 uc004dtk.3 AF128527 NM_014599 CCDS14362 Q9UNF1 MGI:1933391 RGD:70899 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGED2 300470 459084 HGNC:16353 "ENST00000375068.6|NM_177433.3" HGNC:16353 -HGNC:23793 MAGED4 MAGE family member D4 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "MAGE1|MGC3210|KIAA1859|MAGE-E1" melanoma antigen family D4 "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 2003-12-23 2015-11-13 2023-01-20 728239 ENSG00000154545 OTTHUMG00000042235 uc004dpw.6 AF320908 NM_001098800 "CCDS65261|CCDS94608|CCDS48116" Q96JG8 11406556 300702 HGNC:23793 "ENST00000471932.6|NM_001272063.2" -HGNC:22880 MAGED4B MAGE family member D4B protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 melanoma antigen family D4B "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 2006-07-04 2015-11-13 2023-01-20 81557 ENSG00000187243 OTTHUMG00000021546 uc004dpt.5 NM_001242362 "CCDS35281|CCDS56602|CCDS14338" Q96JG8 300765 HGNC:22880 "ENST00000335504.10|NM_030801.5" +HGNC:23793 MAGED4 MAGE family member D4 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "MAGE1|MGC3210|KIAA1859|MAGE-E1" melanoma antigen family D4 "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 2003-12-23 2015-11-13 2023-01-20 728239 ENSG00000154545 OTTHUMG00000042235 uc004dpw.6 AF320908 NM_001098800 "CCDS48116|CCDS94608|CCDS65261" Q96JG8 11406556 300702 HGNC:23793 "ENST00000471932.6|NM_001272063.2" +HGNC:22880 MAGED4B MAGE family member D4B protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 melanoma antigen family D4B "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 2006-07-04 2015-11-13 2023-01-20 81557 ENSG00000187243 OTTHUMG00000021546 uc004dpt.5 NM_001242362 "CCDS56602|CCDS14338|CCDS35281" Q96JG8 300765 HGNC:22880 "ENST00000335504.10|NM_030801.5" HGNC:24934 MAGEE1 MAGE family member E1 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "KIAA1587|DAMAGE" melanoma antigen family E1 MAGE family 1136 2004-06-25 2015-11-13 2023-01-20 57692 ENSG00000198934 OTTHUMG00000021879 uc004ecm.3 AF490507 NM_020932 CCDS14433 Q9HCI5 14623885 MGI:2148149 RGD:1560259 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEE1 300759 HGNC:24934 "ENST00000361470.4|NM_020932.3" HGNC:24935 MAGEE2 MAGE family member E2 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 HCA3 "Melanoma-associated antigen E2|Hepatocellular carcinoma-associated protein 3" melanoma antigen family E2 MAGE family 1136 2004-06-08 2015-11-13 2023-01-20 139599 ENSG00000186675 OTTHUMG00000021870 uc004ecj.3 AF490509 NM_138703 CCDS14431 Q8TD90 11454705 MGI:2148316 RGD:1564872 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEE2 300760 HGNC:24935 "ENST00000373359.4|NM_138703.5" HGNC:24935 HGNC:29639 MAGEF1 MAGE family member F1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 melanoma antigen family F1 MAGE family 1136 2004-06-07 2015-11-13 2023-01-20 64110 ENSG00000177383 OTTHUMG00000156712 uc003fpa.4 AF295378 NM_022149 CCDS3269 Q9HAY2 11313144 609267 HGNC:29639 "ENST00000317897.5|NM_022149.5" HGNC:24092 MAGEH1 MAGE family member H1 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 APR1 melanoma antigen family H1 MAGE family 1136 2004-05-27 2015-11-13 2023-01-20 28986 ENSG00000187601 OTTHUMG00000021655 uc004dum.5 AF320912 NM_014061 CCDS14369 Q9H213 "12414813|9485030" MGI:1922875 RGD:1359316 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEH1 300548 HGNC:24092 "ENST00000342972.3|NM_014061.5" HGNC:6814 MAGEL2 MAGE family member L2 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 nM15 NDNL1 "MAGE-like 2|melanoma antigen family L2" MAGE family 1136 1999-10-29 2015-11-13 2023-01-20 54551 ENSG00000254585 OTTHUMG00000167582 uc001ywj.5 AJ243531 NM_019066 CCDS73700 Q9UJ55 10556298 MGI:1351648 RGD:1583615 LRG_1046|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1046.xml 605283 123324 HGNC:6814 "ENST00000650528.1|NM_019066.5" HGNC:6814 -HGNC:946 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "BAP1|MAGI-1|TNRC19|AIP3|WWP3" BAIAP1 BAI1-associated protein 1 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1998-09-29 2005-05-10 2005-05-10 2023-01-20 9223 ENSG00000151276 OTTHUMG00000157554 uc003dmo.4 AB010894 NM_004742 "CCDS2904|CCDS33780|CCDS33781" Q96QZ7 "9647739|9225980" MGI:1203522 RGD:1586025 602625 HGNC:946 "ENST00000402939.7|NM_001033057.2" +HGNC:946 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "BAP1|MAGI-1|TNRC19|AIP3|WWP3" BAIAP1 BAI1-associated protein 1 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1998-09-29 2005-05-10 2005-05-10 2023-01-20 9223 ENSG00000151276 OTTHUMG00000157554 uc003dmo.4 AB010894 NM_004742 "CCDS33780|CCDS2904|CCDS33781" Q96QZ7 "9647739|9225980" MGI:1203522 RGD:1586025 602625 HGNC:946 "ENST00000402939.7|NM_001033057.2" HGNC:40091 MAGI1-AS1 MAGI1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 MAGI1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100873983 ENSG00000240175 OTTHUMG00000158733 uc031san.1 NR_046575 MAGI1-AS1 HGNC:40091 HGNC:42436 MAGI1-IT1 MAGI1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 MAGI1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-07-27 2015-02-25 2019-07-12 151877 ENSG00000272610 OTTHUMG00000186069 uc032rqc.2 NR_145422 31222747 MAGI1-IT1 HGNC:42436 HGNC:18957 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "AIP1|ARIP1|KIAA0705|ACVRIP1|MAGI-2" activin receptor-interacting protein 1 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 2005-05-10 2023-01-20 9863 ENSG00000187391 OTTHUMG00000130697 uc003ugx.3 AB014605 NM_012301 "CCDS5594|CCDS75623" Q86UL8 "10681527|9734811" MGI:1354953 RGD:621855 606382 470624 HGNC:18957 "ENST00000354212.9|NM_012301.4" HGNC:18957 @@ -17865,19 +17867,19 @@ HGNC:40860 MAGI2-AS1 MAGI2 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:40861 MAGI2-AS2 MAGI2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q21.11 07q21.11 MAGI2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874021 ENSG00000226978 OTTHUMG00000155511 uc031syd.1 NR_046689 MAGI2-AS2 HGNC:40861 HGNC:40862 MAGI2-AS3 MAGI2 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 7q21.11 07q21.11 ENST00000414797 MAGI2 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2018-04-27 100505881 ENSG00000234456 OTTHUMG00000155465 uc022agr.2 NR_038343 "27816668|29679339" MAGI2-AS3 HGNC:40862 HGNC:29647 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 MAGI-3 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 2005-05-10 2023-03-15 260425 ENSG00000081026 OTTHUMG00000011737 uc001edj.4 AF213259 NM_152900 "CCDS44196|CCDS860" Q5TCQ9 "10997877|10748157" MGI:1923484 RGD:621362 615943 HGNC:29647 "ENST00000307546.14|NM_001142782.2" -HGNC:30006 MAGIX MAGI family member, X-linked protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "PDZX|JM10|FLJ21687" PDZ domain containing 1220 2007-03-14 2023-01-20 79917 ENSG00000269313 OTTHUMG00000188218 uc033ecx.2 AK025340 NM_024859 "CCDS94607|CCDS75976|CCDS48107|CCDS48106" Q9H6Y5 MGI:1859644 RGD:1549729 HGNC:30006 "ENST00000595224.6|NM_024859.4" +HGNC:30006 MAGIX MAGI family member, X-linked protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "PDZX|JM10|FLJ21687" PDZ domain containing 1220 2007-03-14 2023-01-20 79917 ENSG00000269313 OTTHUMG00000188218 uc033ecx.2 AK025340 NM_024859 "CCDS75976|CCDS48106|CCDS94607|CCDS48107" Q9H6Y5 MGI:1859644 RGD:1549729 HGNC:30006 "ENST00000595224.6|NM_024859.4" HGNC:6815 MAGOH mago homolog, exon junction complex subunit protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "MAGOHA|MAGOH1" "mago-nashi (Drosophila) homolog, proliferation-associated|mago-nashi homolog, proliferation-associated (Drosophila)|mago homolog, exon junction complex core component" "Exon junction complex|Spliceosomal P complex" "1238|1516" 1997-02-11 2018-04-30 2023-01-20 4116 ENSG00000162385 OTTHUMG00000008932 uc001cvf.2 AF035940 NM_002370 CCDS577 P61326 9479507 MGI:1330312 RGD:1305174 602603 HGNC:6815 "ENST00000371470.8|NM_002370.4" HGNC:49539 MAGOH-DT MAGOH divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Divergent transcripts 1990 2021-08-02 2021-08-02 100507564 ENSG00000226754 OTTHUMG00000008941 NR_038953 HGNC:30148 MAGOH2P mago homolog 2, pseudogene pseudogene pseudogene Approved 17p13.1 17p13.1 MAGOH2 mago-nashi homolog 2, proliferation-associated (Drosophila) 2005-04-07 2014-12-17 2015-07-13 2020-04-20 100506898 ENSG00000264176 OTTHUMG00000178044 "AW371909|AY672100" NR_049723 PGOHUM00000293956 HGNC:30148 HGNC:20020 MAGOH3P mago homolog 3, pseudogene pseudogene pseudogene Approved 14q24.1 14q24.1 MAGOHP1 MAGOHP "mago-nashi homolog, proliferation-associated pseudogene (Drosophila)|mago-nashi homolog, proliferation-associated (Drosophila) pseudogene" 2003-01-13 2010-02-25 2015-07-13 2015-07-13 90352 ENSG00000270975 OTTHUMG00000184601 NG_002581 PGOHUM00000292712 HGNC:20020 HGNC:25504 MAGOHB mago homolog B, exon junction complex subunit protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "FLJ10292|MGN2" "mago-nashi homolog B (Drosophila)|mago homolog B, exon junction complex core component" Exon junction complex 1238 2008-01-24 2018-04-30 2023-01-20 55110 ENSG00000111196 OTTHUMG00000168407 uc001qyq.3 NM_018048 "CCDS8628|CCDS76532" Q96A72 23917022 MGI:1913691 RGD:1597384 619552 HGNC:25504 "ENST00000320756.7|NM_018048.5" -HGNC:28880 MAGT1 magnesium transporter 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "DKFZp564K142|IAP|OST3B|MRX95|SLC58A1" oligosaccharyltransferase 3 homolog B (S. cerevisiae) "Oligosaccharyltransferase complex subunits|Solute carrier family 58" "445|2207" 2008-01-18 2023-03-14 84061 ENSG00000102158 OTTHUMG00000021882 uc004fof.4 NM_032121 "CCDS14436|CCDS94636" Q9H0U3 "15804357|25135935" MGI:1914325 RGD:620094 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGT1|LRG_353|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_353.xml" 300715 SLC58A1 250175 objectId:3039 HGNC:28880 "ENST00000618282.5|NM_001367916.1" HGNC:28880 +HGNC:28880 MAGT1 magnesium transporter 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "DKFZp564K142|IAP|OST3B|MRX95|SLC58A1" oligosaccharyltransferase 3 homolog B (S. cerevisiae) "Oligosaccharyltransferase complex subunits|Solute carrier family 58" "445|2207" 2008-01-18 2023-03-14 84061 ENSG00000102158 OTTHUMG00000021882 uc004fof.4 NM_032121 "CCDS94636|CCDS14436" Q9H0U3 "15804357|25135935" MGI:1914325 RGD:620094 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGT1|LRG_353|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_353.xml" 300715 SLC58A1 250175 objectId:3039 HGNC:28880 "ENST00000618282.5|NM_001367916.1" HGNC:28880 HGNC:51558 MAILR macrophage interferon regulatory lncRNA non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 "MAIL1|H22954" Macrophage Interferon-regulatory LncRNA 1 AZIN1-AS1 AZIN1 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2015-03-05 2020-04-17 2020-04-17 2022-07-06 100506753 ENSG00000253320 OTTHUMG00000164825 NR_126338 "32241891|30959078" AZIN1-AS1 HGNC:51558 HGNC:26198 MAIP1 matrix AAA peptidase interacting protein 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "DKFZp666A212|FLJ22555" C2orf47 chromosome 2 open reading frame 47 2006-09-01 2016-09-30 2016-09-30 2023-01-20 79568 ENSG00000162972 OTTHUMG00000132771 uc002uvm.4 BC017959 NM_024520 CCDS2329 Q8WWC4 "25048349|27642048" MGI:1915365 RGD:1303159 617267 HGNC:26198 "ENST00000392290.6|NM_001394955.1" -HGNC:27441 MAJIN membrane anchored junction protein protein-coding gene gene with protein product Approved 11q13.1 11q13.1 C11orf85 chromosome 11 open reading frame 85 2008-07-18 2016-05-17 2016-05-17 2023-01-20 283129 ENSG00000168070 OTTHUMG00000165632 uc058dbv.1 "AK093130|BC033501" NM_001037225 "CCDS31603|CCDS73316" Q3KP22 26548954 MGI:1923913 RGD:1563886 617130 HGNC:27441 "ENST00000301896.6|NM_001037225.3" -HGNC:6816 MAK male germ cell associated kinase protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "dJ417M14.2|RP62" male germ cell-associated kinase 1994-02-18 2016-01-29 2023-01-20 4117 ENSG00000111837 OTTHUMG00000014247 uc003mzm.4 NM_005906 "CCDS75399|CCDS4516|CCDS93855|CCDS75398" P20794 16951154 MGI:96913 RGD:3036 154235 274231 objectId:2061 HGNC:6816 "ENST00000354489.7|NM_001242957.3" HGNC:6816 +HGNC:27441 MAJIN membrane anchored junction protein protein-coding gene gene with protein product Approved 11q13.1 11q13.1 C11orf85 chromosome 11 open reading frame 85 2008-07-18 2016-05-17 2016-05-17 2023-01-20 283129 ENSG00000168070 OTTHUMG00000165632 uc058dbv.1 "AK093130|BC033501" NM_001037225 "CCDS73316|CCDS31603" Q3KP22 26548954 MGI:1923913 RGD:1563886 617130 HGNC:27441 "ENST00000301896.6|NM_001037225.3" +HGNC:6816 MAK male germ cell associated kinase protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "dJ417M14.2|RP62" male germ cell-associated kinase 1994-02-18 2016-01-29 2023-01-20 4117 ENSG00000111837 OTTHUMG00000014247 uc003mzm.4 NM_005906 "CCDS75399|CCDS93855|CCDS75398|CCDS4516" P20794 16951154 MGI:96913 RGD:3036 154235 274231 objectId:2061 HGNC:6816 "ENST00000354489.7|NM_001242957.3" HGNC:6816 HGNC:13703 MAK16 MAK16 homolog protein-coding gene gene with protein product Approved 8p12 08p12 MAK16L RBM13 "RNA binding motif protein 13|MAK16 homolog (S. cerevisiae)" RNA binding motif containing 725 2000-10-19 2008-06-04 2015-07-03 2023-01-20 84549 ENSG00000198042 OTTHUMG00000163957 uc003xjj.4 AF251062 NM_032509 CCDS6089 Q9BXY0 "29245012|29557065" MGI:1915170 RGD:1311297 470626 HGNC:13703 "ENST00000360128.11|NM_032509.4" -HGNC:6817 MAL mal, T cell differentiation protein protein-coding gene gene with protein product Approved 2q11.1 02q11.1 "MVP17|VIP17" myelin and lymphocyte protein mal, T-cell differentiation protein MARVEL domain containing 1626 1986-01-01 2017-12-06 2023-01-20 4118 ENSG00000172005 OTTHUMG00000132011 uc002stx.3 NM_002371 "CCDS2007|CCDS2006|CCDS2008|CCDS2009" P21145 12072368 MGI:892970 RGD:3037 188860 HGNC:6817 "ENST00000309988.9|NM_002371.4" +HGNC:6817 MAL mal, T cell differentiation protein protein-coding gene gene with protein product Approved 2q11.1 02q11.1 "MVP17|VIP17" myelin and lymphocyte protein mal, T-cell differentiation protein MARVEL domain containing 1626 1986-01-01 2017-12-06 2023-01-20 4118 ENSG00000172005 OTTHUMG00000132011 uc002stx.3 NM_002371 "CCDS2007|CCDS2009|CCDS2008|CCDS2006" P21145 12072368 MGI:892970 RGD:3037 188860 HGNC:6817 "ENST00000309988.9|NM_002371.4" HGNC:13634 MAL2 mal, T cell differentiation protein 2 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "MAL proteolipid protein 2|myelin and lymphocyte protein 2" "mal, T-cell differentiation protein 2 (gene/pseudogene)|mal, T cell differentiation protein 2 (gene/pseudogene)" MARVEL domain containing 1626 2001-09-05 2020-05-01 2023-01-20 114569 ENSG00000147676 OTTHUMG00000164973 uc033bxh.1 AL117612 NM_052886 CCDS75780 Q969L2 "11549320|12370246" MGI:2146021 RGD:735066 609684 HGNC:13634 "ENST00000614891.5|NM_052886.3" HGNC:53626 MAL2-AS1 MAL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.12 08q24.12 Antisense RNAs 1987 2017-08-03 2017-08-03 105375726 ENSG00000253972 OTTHUMG00000164978 NR_149111 HGNC:53626 HGNC:29665 MALAT1 metastasis associated lung adenocarcinoma transcript 1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 "PRO1073|MALAT-1|NCRNA00047|HCN|NEAT2|LINC00047|mascRNA" "metastasis associated in lung adenocarcinoma transcript 1|non-protein coding RNA 47|hepcarcin|nuclear enriched abundant transcript 2|nuclear paraspeckle assembly transcript 2 (non-protein coding)|long intergenic non-protein coding RNA 47" metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2004-06-25 2018-05-16 2022-04-25 378938 ENSG00000251562 OTTHUMG00000166322 uc010roh.5 AF001540 NR_002819 "12970751|22560368|27693631" MGI:1919539 607924 Malat1 MALAT1 HGNC:29665 @@ -17887,7 +17889,7 @@ HGNC:55038 MALLP1 MALL pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 HGNC:55039 MALLP2 MALL pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2020-06-04 2020-06-04 105374855 ENSG00000283270 XR_940348 HGNC:24331 MALRD1 MAM and LDL receptor class A domain containing 1 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 "bA265G8.2|Diet1" C10orf112 chromosome 10 open reading frame 112 2004-05-27 2013-12-13 2013-12-13 2023-01-20 340895 ENSG00000204740 OTTHUMG00000017779 KC843478 NM_001142308 CCDS73071 Q5VYJ5 19103277 MGI:1928271 RGD:2320868 617715 HGNC:24331 "ENST00000454679.7|NM_001142308.3" HGNC:21721 MALSU1 mitochondrial assembly of ribosomal large subunit 1 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 mtRsfA C7orf30 chromosome 7 open reading frame 30 2003-07-14 2012-02-20 2012-02-20 2023-01-20 115416 ENSG00000156928 OTTHUMG00000128443 uc003swd.2 BC012331 NM_138446 CCDS5381 Q96EH3 "22238376|22238375" MGI:1922843 RGD:1306936 614624 HGNC:21721 "ENST00000466681.2|NM_138446.2" -HGNC:6819 MALT1 MALT1 paracaspase protein-coding gene gene with protein product Approved 18q21.32 18q21.32 PCASP1 "MALT1 protease|paracaspase 1" MLT mucosa associated lymphoid tissue lymphoma translocation gene 1 "Immunoglobulin like domain containing|CBM complex" "594|1405" 1999-08-02 2014-12-01 2023-01-20 10892 ENSG00000172175 OTTHUMG00000132761 uc002lhm.3 NM_006785 "CCDS11967|CCDS11968" Q9UDY8 "10339464|10406266|10523859|11090634|26377317" MGI:2445027 RGD:1309195 LRG_1221|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1221.xml MALT1 604860 159756 C14.026 objectId:2983 HGNC:6819 "ENST00000649217.2|NM_006785.4" HGNC:6819 +HGNC:6819 MALT1 MALT1 paracaspase protein-coding gene gene with protein product Approved 18q21.32 18q21.32 PCASP1 "MALT1 protease|paracaspase 1" MLT mucosa associated lymphoid tissue lymphoma translocation gene 1 "Immunoglobulin like domain containing|CBM complex" "594|1405" 1999-08-02 2014-12-01 2023-01-20 10892 ENSG00000172175 OTTHUMG00000132761 uc002lhm.3 NM_006785 "CCDS11968|CCDS11967" Q9UDY8 "10339464|10406266|10523859|11090634|26377317" MGI:2445027 RGD:1309195 LRG_1221|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1221.xml MALT1 604860 159756 C14.026 objectId:2983 HGNC:6819 "ENST00000649217.2|NM_006785.4" HGNC:6819 HGNC:55306 MALT1-AS1 MALT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q21.32 18q21.32 Antisense RNAs 1987 2020-10-16 2020-10-16 101927322 ENSG00000267226 NR_164150 HGNC:23673 MAMDC2 MAM domain containing 2 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 MGC21981 2003-12-01 2023-01-20 256691 ENSG00000165072 OTTHUMG00000019990 uc004ahm.3 BC040299 NM_153267 CCDS6631 Q7Z304 MGI:1918988 RGD:1305129 612879 HGNC:23673 "ENST00000377182.5|NM_153267.5" HGNC:48719 MAMDC2-AS1 MAMDC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.12 09q21.12 Antisense RNAs 1987 2013-06-07 2020-04-01 100507244 ENSG00000204706 OTTHUMG00000019986 NR_040076 32226304 MAMDC2-AS1 HGNC:48719 @@ -17895,8 +17897,8 @@ HGNC:24083 MAMDC4 MAM domain containing 4 protein-coding gene gene with protein HGNC:13632 MAML1 mastermind like transcriptional coactivator 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "KIAA0200|Mam-1" mastermind homolog "mastermind (drosophila)-like 1|mastermind-like 1 (Drosophila)" 2001-07-19 2015-11-19 2023-01-20 9794 ENSG00000161021 OTTHUMG00000163237 uc003mkm.3 D83785 NM_014757 CCDS34315 Q92585 "11101851|11390662" MGI:1890504 RGD:1308631 605424 HGNC:13632 "ENST00000292599.4|NM_014757.5" HGNC:16259 MAML2 mastermind like transcriptional coactivator 2 protein-coding gene gene with protein product Approved 11q21 11q21 "KIAA1819|MAM3" "mastermind (Drosophila)-like 2|mastermind-like 2 (Drosophila)" 2002-11-04 2015-11-19 2023-01-20 84441 ENSG00000184384 OTTHUMG00000167677 uc001pfw.3 AB058722 NM_032427 CCDS44714 Q8IZL2 "12370315|12386158" MGI:2389460 RGD:1587536 MAML2 607537 HGNC:16259 "ENST00000524717.6|NM_032427.4" HGNC:16272 MAML3 mastermind like transcriptional coactivator 3 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "KIAA1816|MAM2|CAGH3|GDN" mastermind (drosophila)-like 3 TNRC3 "trinucleotide repeat containing 3|mastermind-like 3 (Drosophila)" 2002-11-04 2015-11-19 2023-01-20 55534 ENSG00000196782 OTTHUMG00000161441 uc062zte.1 AB058719 NM_018717 CCDS54805 Q96JK9 "12370315|12386158" MGI:2389461 RGD:1308177 608991 HGNC:16272 "ENST00000509479.6|NM_018717.5" -HGNC:2568 MAMLD1 mastermind like domain containing 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "CG1|F18" CXorf6 chromosome X open reading frame 6 1999-05-18 2008-01-03 2015-11-19 2023-01-20 10046 ENSG00000013619 OTTHUMG00000024157 uc065boq.1 U46023 NM_005491 "CCDS94684|CCDS94683|CCDS55525|CCDS55526|CCDS94682|CCDS14693" Q13495 "9169146|17086185|18162467" MGI:3045303 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAMLD1 300120 159494 HGNC:2568 "ENST00000370401.7|NM_005491.5" HGNC:2568 -HGNC:26689 MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MASTR|FLJ36070" MEF2-activating SAP transcriptional regulator Myocardin family 1407 2009-05-08 2023-01-20 284358 ENSG00000176909 OTTHUMG00000183322 uc002pkf.3 AK093389 NM_182574 "CCDS12730|CCDS74415|CCDS46137" Q6ZN01 16818234 MGI:1921740 RGD:1588652 610349 HGNC:26689 "ENST00000318083.11|NM_001130915.2" +HGNC:2568 MAMLD1 mastermind like domain containing 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "CG1|F18" CXorf6 chromosome X open reading frame 6 1999-05-18 2008-01-03 2015-11-19 2023-01-20 10046 ENSG00000013619 OTTHUMG00000024157 uc065boq.1 U46023 NM_005491 "CCDS55525|CCDS14693|CCDS94684|CCDS94682|CCDS94683|CCDS55526" Q13495 "9169146|17086185|18162467" MGI:3045303 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAMLD1 300120 159494 HGNC:2568 "ENST00000370401.7|NM_005491.5" HGNC:2568 +HGNC:26689 MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MASTR|FLJ36070" MEF2-activating SAP transcriptional regulator Myocardin family 1407 2009-05-08 2023-01-20 284358 ENSG00000176909 OTTHUMG00000183322 uc002pkf.3 AK093389 NM_182574 "CCDS46137|CCDS12730|CCDS74415" Q6ZN01 16818234 MGI:1921740 RGD:1588652 610349 HGNC:26689 "ENST00000318083.11|NM_001130915.2" HGNC:6821 MAN1A1 mannosidase alpha class 1A member 1 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 mannosidase, alpha, class 1A, member 1 Mannosidases alpha class 1 1193 1997-07-01 2016-01-22 2023-01-20 4121 ENSG00000111885 OTTHUMG00000015472 uc003pym.3 AK025599 NM_005907 CCDS5122 P33908 8223597 MGI:104677 RGD:1310891 604344 3.2.1.113 HGNC:6821 "ENST00000368468.4|NM_005907.4" HGNC:6822 MAN1A2 mannosidase alpha class 1A member 2 protein-coding gene gene with protein product Approved 1p12 01p12 MAN1B mannosidase, alpha, class 1A, member 2 Mannosidases alpha class 1 1193 1999-08-12 2016-01-22 2023-01-20 10905 ENSG00000198162 OTTHUMG00000012149 uc001ehd.2 AF027156 NM_006699 CCDS895 O60476 9592125 MGI:104676 RGD:1309767 604345 HGNC:6822 "ENST00000356554.7|NM_006699.5" HGNC:50488 MAN1A2P1 mannosidase alpha class 1A member 2 pseudogene 1 pseudogene pseudogene Approved 19q12 19q12 mannosidase, alpha, class 1A, member 2 pseudogene 1 2014-05-07 2016-01-22 2016-01-22 100129507 ENSG00000267799 OTTHUMG00000181945 NG_021747 PGOHUM00000259323 HGNC:50488 @@ -17906,18 +17908,18 @@ HGNC:19080 MAN1C1 mannosidase alpha class 1C member 1 protein-coding gene gene w HGNC:6824 MAN2A1 mannosidase alpha class 2A member 1 protein-coding gene gene with protein product Approved 5q21.3 05q21.3 GOLIM7 golgi integral membrane protein 7 MANA2 mannosidase, alpha, class 2A, member 1 Mannosidases alpha class 2 1194 1993-11-01 2016-01-22 2023-01-20 4124 ENSG00000112893 OTTHUMG00000162834 uc003kou.3 NM_002372 CCDS34209 Q16706 "1757461|15004235" MGI:104669 RGD:3038 154582 3.2.1.114 HGNC:6824 "ENST00000261483.5|NM_002372.4" HGNC:54821 MAN2A1-DT MAN2A1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q21.3 05q21.3 Divergent transcripts 1990 2020-01-17 2020-07-16 116435300 ENSG00000271849 32079618 HGNC:6825 MAN2A2 mannosidase alpha class 2A member 2 protein-coding gene gene with protein product Approved 15q25 15q25 "MANA2X|HsT19662" mannosidase, alpha, class 2A, member 2 Mannosidases alpha class 2 1194 1997-07-01 2016-01-22 2023-01-20 4122 ENSG00000196547 OTTHUMG00000172385 uc010bnz.3 L28821 NM_006122 CCDS32332 P49641 8524845 MGI:2150656 RGD:1310238 600988 HGNC:6825 "ENST00000559717.6|NM_006122.4" -HGNC:6826 MAN2B1 mannosidase alpha class 2B member 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 LAMAN lysosomal alpha-mannosidase MANB mannosidase, alpha, class 2B, member 1 Mannosidases alpha class 2 1194 2001-06-22 2016-01-22 2023-01-20 4125 ENSG00000104774 OTTHUMG00000156397 uc002mub.3 NM_000528 "CCDS54224|CCDS32919" O00754 "15712269|19722277" MGI:107286 RGD:3039 609458 123328 3.2.1.24 HGNC:6826 "ENST00000456935.7|NM_000528.4" HGNC:6826 -HGNC:29623 MAN2B2 mannosidase alpha class 2B member 2 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "KIAA0935|EpMAN" "core-specific lysosomal alpha-1,6-Mannosidase|Epididymis-specific alpha-mannosidase" mannosidase, alpha, class 2B, member 2 Mannosidases alpha class 2 1194 2004-04-05 2016-01-22 2023-01-20 23324 ENSG00000013288 OTTHUMG00000160073 uc003gjf.2 BC033307 NM_015274 "CCDS77898|CCDS33951" Q9Y2E5 "10231032|16115860|19722277|31775018" MGI:1195262 RGD:1308840 618899 3.2.1.24 HGNC:29623 "ENST00000285599.8|NM_015274.3" -HGNC:6827 MAN2C1 mannosidase alpha class 2C member 1 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "MANA1|MANA" mannosidase, alpha, class 2C, member 1 Mannosidases alpha class 2 1194 1986-01-01 2016-01-22 2023-01-20 4123 ENSG00000140400 OTTHUMG00000172698 uc002baf.5 AF044414 NM_001256494 "CCDS58389|CCDS32298|CCDS58391|CCDS58390" Q9NTJ4 "1757461|752528" MGI:1920994 RGD:628787 154580 3.2.1.24 HGNC:6827 "ENST00000267978.10|NM_006715.4" HGNC:6827 +HGNC:6826 MAN2B1 mannosidase alpha class 2B member 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 LAMAN lysosomal alpha-mannosidase MANB mannosidase, alpha, class 2B, member 1 Mannosidases alpha class 2 1194 2001-06-22 2016-01-22 2023-01-20 4125 ENSG00000104774 OTTHUMG00000156397 uc002mub.3 NM_000528 "CCDS32919|CCDS54224" O00754 "15712269|19722277" MGI:107286 RGD:3039 609458 123328 3.2.1.24 HGNC:6826 "ENST00000456935.7|NM_000528.4" HGNC:6826 +HGNC:29623 MAN2B2 mannosidase alpha class 2B member 2 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "KIAA0935|EpMAN" "core-specific lysosomal alpha-1,6-Mannosidase|Epididymis-specific alpha-mannosidase" mannosidase, alpha, class 2B, member 2 Mannosidases alpha class 2 1194 2004-04-05 2016-01-22 2023-01-20 23324 ENSG00000013288 OTTHUMG00000160073 uc003gjf.2 BC033307 NM_015274 "CCDS33951|CCDS77898" Q9Y2E5 "10231032|16115860|19722277|31775018" MGI:1195262 RGD:1308840 618899 3.2.1.24 HGNC:29623 "ENST00000285599.8|NM_015274.3" +HGNC:6827 MAN2C1 mannosidase alpha class 2C member 1 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "MANA1|MANA" mannosidase, alpha, class 2C, member 1 Mannosidases alpha class 2 1194 1986-01-01 2016-01-22 2023-01-20 4123 ENSG00000140400 OTTHUMG00000172698 uc002baf.5 AF044414 NM_001256494 "CCDS58391|CCDS32298|CCDS58390|CCDS58389" Q9NTJ4 "1757461|752528" MGI:1920994 RGD:628787 154580 3.2.1.24 HGNC:6827 "ENST00000267978.10|NM_006715.4" HGNC:6827 HGNC:6831 MANBA mannosidase beta protein-coding gene gene with protein product Approved 4q24 04q24 beta-mannosidase A mannosidase, beta A, lysosomal Mannosidases type beta 1196 1990-05-25 2016-01-22 2023-01-20 4126 ENSG00000109323 OTTHUMG00000131123 uc003hwg.4 NM_005908 CCDS3658 O00462 7876128 MGI:88175 RGD:1305785 609489 123131 3.2.1.25 HGNC:6831 "ENST00000647097.2|NM_005908.4" HGNC:6831 -HGNC:15799 MANBAL mannosidase beta like protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ1141E15.2 "mannosidase, beta A, lysosomal-like|mannosidase beta A like" Mannosidases type beta 1196 2001-09-17 2016-01-22 2023-01-20 63905 ENSG00000101363 OTTHUMG00000032414 uc002xgv.4 NM_022077 "CCDS93036|CCDS13293" Q9NQG1 MGI:1916411 RGD:1561447 HGNC:15799 "ENST00000373606.8|NM_001003897.2" +HGNC:15799 MANBAL mannosidase beta like protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ1141E15.2 "mannosidase, beta A, lysosomal-like|mannosidase beta A like" Mannosidases type beta 1196 2001-09-17 2016-01-22 2023-01-20 63905 ENSG00000101363 OTTHUMG00000032414 uc002xgv.4 NM_022077 "CCDS13293|CCDS93036" Q9NQG1 MGI:1916411 RGD:1561447 HGNC:15799 "ENST00000373606.8|NM_001003897.2" HGNC:44678 MANCR mitotically associated long non coding RNA non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 CR749391 LINC00704 long intergenic non-protein coding RNA 704 Long non-coding RNAs with non-systematic symbols 1992 2012-12-04 2018-03-01 2018-03-01 2020-01-10 100216001 ENSG00000231298 OTTHUMG00000017576 uc001ihf.5 BC048320 NR_024475 "29378907|31853323" LINC00704 HGNC:44678 HGNC:21072 MANEA mannosidase endo-alpha protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "FLJ12838|mandaselin" "glycoprotein endo-alpha-1,2-mannosidase|endomannosidase" mannosidase, endo-alpha Mannosidases endo-alpha 1195 2003-05-15 2016-01-22 2023-01-20 79694 ENSG00000172469 OTTHUMG00000016296 uc003poo.3 AK022900 NM_024641 CCDS5032 Q5SRI9 MGI:2444484 RGD:620327 612327 3.2.1.130 HGNC:21072 "ENST00000358812.9|NM_024641.4" HGNC:43732 MANEA-DT MANEA divergent transcript non-coding RNA RNA, long non-coding Approved 6q16.1 06q16.1 MANEA-AS1 "MANEA antisense RNA 1 (non-protein coding)|MANEA antisense RNA 1|MANEA antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-02-10 2018-03-23 2018-03-23 2018-03-23 101927288 ENSG00000261366 OTTHUMG00000175933 uc032xey.2 BC047582 NR_047502 MANEA-AS1 HGNC:43732 -HGNC:26452 MANEAL mannosidase endo-alpha like protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ31434 mannosidase, endo-alpha-like Mannosidases endo-alpha 1195 2005-05-23 2016-01-22 2023-01-20 149175 ENSG00000185090 OTTHUMG00000004317 uc001cby.3 AK055996 NM_152496 "CCDS44111|CCDS44110|CCDS426" Q5VSG8 MGI:2684896 RGD:1563973 HGNC:26452 "ENST00000373045.11|NM_001113482.2" +HGNC:26452 MANEAL mannosidase endo-alpha like protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ31434 mannosidase, endo-alpha-like Mannosidases endo-alpha 1195 2005-05-23 2016-01-22 2023-01-20 149175 ENSG00000185090 OTTHUMG00000004317 uc001cby.3 AK055996 NM_152496 "CCDS44111|CCDS426|CCDS44110" Q5VSG8 MGI:2684896 RGD:1563973 HGNC:26452 "ENST00000373045.11|NM_001113482.2" HGNC:54641 MANEALP1 MANEAL pseudogene 1 pseudogene pseudogene Approved 2q21.3 02q21.3 2019-10-31 2019-10-31 391448 ENSG00000214070 NG_021523 HGNC:15461 MANF mesencephalic astrocyte derived neurotrophic factor protein-coding gene gene with protein product Approved 3p21.2 03p21.2 ARP ARMET "arginine-rich, mutated in early stage tumors|mesencephalic astrocyte-derived neurotrophic factor" 2001-03-30 2009-06-04 2016-01-26 2023-01-20 7873 ENSG00000145050 OTTHUMG00000156897 uc003dbc.4 M83751 NM_006010 CCDS46836 P55145 "12794311|30555354" MGI:1922090 RGD:1307252 601916 HGNC:15461 "ENST00000528157.7|NM_006010.6" -HGNC:25505 MANSC1 MANSC domain containing 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "FLJ10298|LOH12CR3" 2004-04-20 2023-01-20 54682 ENSG00000111261 OTTHUMG00000168541 uc001rai.2 AK001160 NM_018050 "CCDS8648|CCDS86284" Q9H8J5 12975309 MGI:1914979 RGD:1593458 ligandId:10539 HGNC:25505 "ENST00000535902.6|NM_018050.4" +HGNC:25505 MANSC1 MANSC domain containing 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "FLJ10298|LOH12CR3" 2004-04-20 2023-01-20 54682 ENSG00000111261 OTTHUMG00000168541 uc001rai.2 AK001160 NM_018050 "CCDS86284|CCDS8648" Q9H8J5 12975309 MGI:1914979 RGD:1593458 ligandId:10539 HGNC:25505 "ENST00000535902.6|NM_018050.4" HGNC:40023 MANSC4 MANSC domain containing 4 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 2011-05-05 2023-01-20 100287284 ENSG00000205693 OTTHUMG00000169216 uc010sjs.2 NM_001146221 CCDS53770 A6NHS7 MGI:3645619 RGD:1585055 HGNC:40023 "ENST00000381273.4|NM_001146221.5" HGNC:6833 MAOA monoamine oxidase A protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 1986-01-01 2023-01-20 4128 ENSG00000189221 OTTHUMG00000021387 uc004dfy.5 NM_000240 "CCDS14260|CCDS59163" P21397 "2906043|20485326" MGI:96915 RGD:61898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAOA 309850 123133 objectId:2489 1.4.3.4 HGNC:6833 "ENST00000338702.4|NM_000240.4" HGNC:6833 HGNC:6834 MAOB monoamine oxidase B protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 1986-01-01 2023-01-20 4129 ENSG00000069535 OTTHUMG00000021388 uc004dfz.5 NM_000898 CCDS14261 P27338 MGI:96916 RGD:3041 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAOB|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/" 309860 470628 objectId:2490 1.4.3.4 HGNC:6834 "ENST00000378069.5|NM_000898.5" @@ -17929,66 +17931,66 @@ HGNC:34390 MAP1LC3B2 microtubule associated protein 1 light chain 3 beta 2 prote HGNC:49783 MAP1LC3BP1 microtubule associated protein 1 light chain 3 beta pseudogene 1 pseudogene pseudogene Approved 9p22.1 09p22.1 2014-02-14 2015-11-16 2015-11-16 392288 ENSG00000231909 OTTHUMG00000019643 XM_047424278 PGOHUM00000235981 HGNC:49783 HGNC:13353 MAP1LC3C microtubule associated protein 1 light chain 3 gamma protein-coding gene gene with protein product Approved 1q43 01q43 ATG8J Autophagy related 1022 2005-05-19 2015-11-16 2023-01-20 440738 ENSG00000197769 OTTHUMG00000039865 uc001hzk.3 AF276659 NM_001004343 CCDS31074 Q9BXW4 12740394 609605 HGNC:13353 "ENST00000357246.4|NM_001004343.3" HGNC:31004 MAP1LC3P microtubule associated protein 1 light chain 3 pseudogene pseudogene pseudogene Approved 18q21.2 18q21.2 HsT312 2004-01-05 2015-11-16 2017-10-30 387615 ENSG00000267647 OTTHUMG00000179818 AY389342 NG_004859 PGOHUM00000294793 HGNC:31004 -HGNC:15715 MAP1S microtubule associated protein 1S protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "FLJ10669|MAP8" "C19orf5|VCY2IP1|BPY2IP1" "chromosome 19 open reading frame 5|VCY2 interacting protein 1|BPY2 interacting protein 1" 2001-06-04 2006-07-04 2015-11-16 2023-01-20 55201 ENSG00000130479 OTTHUMG00000183292 uc002nhe.2 BC067115 NM_018174 "CCDS77262|CCDS32954" Q66K74 "11827465|15528209|16297881|14627543" MGI:2443304 RGD:1308266 607573 HGNC:15715 "ENST00000324096.9|NM_018174.6" -HGNC:6839 MAP2 microtubule associated protein 2 protein-coding gene gene with protein product Approved 2q34 02q34 "MAP2A|MAP2B|MAP2C" A-kinase anchoring proteins 396 1989-01-16 2015-11-16 2023-03-15 4133 ENSG00000078018 OTTHUMG00000132962 uc002vde.2 NM_001039538 "CCDS2384|CCDS2385|CCDS86916|CCDS33369" P11137 "3103857|7479905" MGI:97175 RGD:3044 157130 HGNC:6839 "ENST00000682079.1|NM_001375505.1" -HGNC:6840 MAP2K1 mitogen-activated protein kinase kinase 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "MEK1|MAPKK1" PRKMK1 Mitogen-activated protein kinase kinases 653 1993-11-05 2023-01-20 5604 ENSG00000169032 OTTHUMG00000133196 uc010bhq.4 L11284 NM_001411065 "CCDS10216|CCDS92029" Q02750 "9465908|8388392" MGI:1346866 RGD:70495 "The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MAP2K1|LRG_725|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_725.xml" MAP2K1 176872 123135 objectId:2062 2.7.12.2 HGNC:6840 "ENST00000307102.10|NM_002755.4" HGNC:6840 +HGNC:15715 MAP1S microtubule associated protein 1S protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "FLJ10669|MAP8" "C19orf5|VCY2IP1|BPY2IP1" "chromosome 19 open reading frame 5|VCY2 interacting protein 1|BPY2 interacting protein 1" 2001-06-04 2006-07-04 2015-11-16 2023-01-20 55201 ENSG00000130479 OTTHUMG00000183292 uc002nhe.2 BC067115 NM_018174 "CCDS32954|CCDS77262" Q66K74 "11827465|15528209|16297881|14627543" MGI:2443304 RGD:1308266 607573 HGNC:15715 "ENST00000324096.9|NM_018174.6" +HGNC:6839 MAP2 microtubule associated protein 2 protein-coding gene gene with protein product Approved 2q34 02q34 "MAP2A|MAP2B|MAP2C" A-kinase anchoring proteins 396 1989-01-16 2015-11-16 2023-03-15 4133 ENSG00000078018 OTTHUMG00000132962 uc002vde.2 NM_001039538 "CCDS2385|CCDS33369|CCDS2384|CCDS86916" P11137 "3103857|7479905" MGI:97175 RGD:3044 157130 HGNC:6839 "ENST00000682079.1|NM_001375505.1" +HGNC:6840 MAP2K1 mitogen-activated protein kinase kinase 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "MEK1|MAPKK1" PRKMK1 Mitogen-activated protein kinase kinases 653 1993-11-05 2023-01-20 5604 ENSG00000169032 OTTHUMG00000133196 uc010bhq.4 L11284 NM_001411065 "CCDS92029|CCDS10216" Q02750 "9465908|8388392" MGI:1346866 RGD:70495 "The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MAP2K1|LRG_725|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_725.xml" MAP2K1 176872 123135 objectId:2062 2.7.12.2 HGNC:6840 "ENST00000307102.10|NM_002755.4" HGNC:6840 HGNC:6841 MAP2K1P1 mitogen-activated protein kinase kinase 1 pseudogene 1 pseudogene pseudogene Approved 8p12 08p12 2000-02-10 2017-10-30 29778 ENSG00000254013 OTTHUMG00000163815 AF157487 NG_001273 PGOHUM00000303493 HGNC:6841 HGNC:6842 MAP2K2 mitogen-activated protein kinase kinase 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MEK2 PRKMK2 Mitogen-activated protein kinase kinases 653 1993-11-05 2023-01-20 5605 ENSG00000126934 OTTHUMG00000134286 uc002lzk.4 L11285 NM_030662 CCDS12120 P36507 8388392 MGI:1346867 RGD:61888 LRG_750|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_750.xml MAP2K2 601263 123140 objectId:2063 2.7.12.2 HGNC:6842 "ENST00000262948.10|NM_030662.4" HGNC:6842 HGNC:6843 MAP2K3 mitogen-activated protein kinase kinase 3 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "MEK3|MKK3|MAPKK3" "MAPK/ERK kinase 3|MAP kinase kinase 3|dual specificity mitogen activated protein kinase kinase 3" PRKMK3 Mitogen-activated protein kinase kinases 653 1997-11-11 2023-01-20 5606 ENSG00000034152 OTTHUMG00000134322 uc002gys.4 L36719 NM_145109 "CCDS11217|CCDS11218" P46734 9465908 MGI:1346868 RGD:1306620 602315 objectId:2064 HGNC:6843 "ENST00000342679.9|NM_145109.3" -HGNC:6844 MAP2K4 mitogen-activated protein kinase kinase 4 protein-coding gene gene with protein product Approved 17p12 17p12 "MEK4|JNKK1|PRKMK4|MKK4" SERK1 "Mitogen-activated protein kinase kinases|MicroRNA protein coding host genes" "653|1691" 1997-11-11 2023-01-20 6416 ENSG00000065559 OTTHUMG00000178267 uc002gnj.5 L36870 NM_001281435 "CCDS62095|CCDS11162" P45985 7716521 MGI:1346869 RGD:1307040 MAP2K4 601335 objectId:2065 2.7.12.2 HGNC:6844 "ENST00000353533.10|NM_003010.4" +HGNC:6844 MAP2K4 mitogen-activated protein kinase kinase 4 protein-coding gene gene with protein product Approved 17p12 17p12 "MEK4|JNKK1|PRKMK4|MKK4" SERK1 "Mitogen-activated protein kinase kinases|MicroRNA protein coding host genes" "653|1691" 1997-11-11 2023-01-20 6416 ENSG00000065559 OTTHUMG00000178267 uc002gnj.5 L36870 NM_001281435 "CCDS11162|CCDS62095" P45985 7716521 MGI:1346869 RGD:1307040 MAP2K4 601335 objectId:2065 2.7.12.2 HGNC:6844 "ENST00000353533.10|NM_003010.4" HGNC:43837 MAP2K4P1 mitogen-activated protein kinase kinase 4 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 2012-03-18 2013-08-05 139201 ENSG00000269904 OTTHUMG00000021833 NR_029423 PGOHUM00000241393 HGNC:43837 -HGNC:6845 MAP2K5 mitogen-activated protein kinase kinase 5 protein-coding gene gene with protein product Approved 15q23 15q23 "MEK5|MAPKK5|HsT17454" PRKMK5 Mitogen-activated protein kinase kinases 653 1997-11-11 2023-03-15 5607 ENSG00000137764 OTTHUMG00000133264 uc002aqu.4 U25265 NM_145162 "CCDS42051|CCDS55970|CCDS10224" Q13163 7759517 MGI:1346345 RGD:61890 602520 objectId:2066 HGNC:6845 "ENST00000178640.10|NM_145160.3" -HGNC:55261 MAP2K5-DT MAP2K5 divergent transcript non-coding RNA RNA, long non-coding Approved 15q23 15q23 Divergent transcripts 1990 2020-09-25 2020-09-25 118732298 ENSG00000270964 +HGNC:6845 MAP2K5 mitogen-activated protein kinase kinase 5 protein-coding gene gene with protein product Approved 15q23 15q23 "MEK5|MAPKK5|HsT17454" PRKMK5 Mitogen-activated protein kinase kinases 653 1997-11-11 2023-03-15 5607 ENSG00000137764 OTTHUMG00000133264 uc002aqu.4 U25265 NM_145162 "CCDS10224|CCDS42051|CCDS55970" Q13163 7759517 MGI:1346345 RGD:61890 602520 objectId:2066 HGNC:6845 "ENST00000178640.10|NM_145160.3" +HGNC:55261 MAP2K5-DT MAP2K5 divergent transcript non-coding RNA RNA, long non-coding Approved 15q23 15q23 Divergent transcripts 1990 2020-09-25 2020-09-25 118732298 ENSG00000270964 NR_186334 HGNC:6846 MAP2K6 mitogen-activated protein kinase kinase 6 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 "MEK6|MKK6|SAPKK3|MAPKK6" protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6) PRKMK6 Mitogen-activated protein kinase kinases 653 1997-11-11 2023-01-20 5608 ENSG00000108984 OTTHUMG00000180311 uc002jij.4 U39064 NM_002758 "CCDS11686|CCDS82194" P52564 8621675 MGI:1346870 RGD:620666 601254 objectId:2067 HGNC:6846 "ENST00000590474.7|NM_002758.4" -HGNC:6847 MAP2K7 mitogen-activated protein kinase kinase 7 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MKK7|Jnkk2" PRKMK7 Mitogen-activated protein kinase kinases 653 1998-04-28 2023-01-20 5609 ENSG00000076984 OTTHUMG00000137368 uc002mit.4 AF006689 NM_001297555 "CCDS74277|CCDS74278|CCDS42491" O14733 9312068 MGI:1346871 RGD:1560043 603014 objectId:2068 2.7.12.2 HGNC:6847 "ENST00000397979.4|NM_145185.4" HGNC:6847 +HGNC:6847 MAP2K7 mitogen-activated protein kinase kinase 7 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MKK7|Jnkk2" PRKMK7 Mitogen-activated protein kinase kinases 653 1998-04-28 2023-01-20 5609 ENSG00000076984 OTTHUMG00000137368 uc002mit.4 AF006689 NM_001297555 "CCDS42491|CCDS74277|CCDS74278" O14733 9312068 MGI:1346871 RGD:1560043 603014 objectId:2068 2.7.12.2 HGNC:6847 "ENST00000397979.4|NM_145185.4" HGNC:6847 HGNC:6848 MAP3K1 mitogen-activated protein kinase kinase kinase 1 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "MEKK|MAPKKK1" MEKK1 MEKK1 "Ring finger proteins|Zinc fingers SWIM-type|Mitogen-activated protein kinase kinase kinases" "58|90|654" 1997-11-14 2016-03-14 2023-01-20 4214 ENSG00000095015 OTTHUMG00000059486 uc003jqw.5 "U29671|AF042838" NM_005921 CCDS43318 Q13233 "8597633|12049732" MGI:1346872 RGD:620966 MAP3K1 600982 260583 objectId:2069 HGNC:6848 "ENST00000399503.4|NM_005921.2" HGNC:6848 HGNC:6854 MAP3K2 mitogen-activated protein kinase kinase kinase 2 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 MEKK2B MAP/ERK kinase kinase 2 MEKK2 Mitogen-activated protein kinase kinase kinases 654 1999-07-01 2023-01-20 10746 ENSG00000169967 OTTHUMG00000153397 uc032obe.2 AF111105 NM_006609 CCDS46404 Q9Y2U5 "8621389|10085062" MGI:1346873 RGD:620967 609487 objectId:2077 HGNC:6854 "ENST00000682094.1|NM_001371910.2" HGNC:54088 MAP3K2-DT MAP3K2 divergent transcript non-coding RNA RNA, long non-coding Approved 2q14.3 02q14.3 ENST00000433673 Divergent transcripts 1990 2018-10-25 2018-10-25 100506922 ENSG00000236682 XR_001739698 26650608 HGNC:54088 -HGNC:6855 MAP3K3 mitogen-activated protein kinase kinase kinase 3 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 MAPKKK3 "MAP/ERK kinase kinase 3|MAPK/ERK kinase kinase 3" MEKK3 Mitogen-activated protein kinase kinase kinases 654 1997-11-14 2023-01-20 4215 ENSG00000198909 OTTHUMG00000178905 uc002jbg.4 U78876 NM_002401 "CCDS32702|CCDS82186|CCDS86624|CCDS32701" Q99759 9006902 MGI:1346874 RGD:1304575 602539 objectId:2078 HGNC:6855 "ENST00000361733.8|NM_002401.5" -HGNC:6856 MAP3K4 mitogen-activated protein kinase kinase kinase 4 protein-coding gene gene with protein product Approved 6q26 06q26 "MTK1|MAPKKK4|KIAA0213" MEKK4 Mitogen-activated protein kinase kinase kinases 654 1997-11-14 2023-01-20 4216 ENSG00000085511 OTTHUMG00000015968 uc003qtn.4 AF002715 NM_001291958 "CCDS75544|CCDS34565|CCDS87464|CCDS34566" Q9Y6R4 9305639 MGI:1346875 RGD:1311192 602425 objectId:2079 HGNC:6856 "ENST00000392142.9|NM_005922.4" +HGNC:6855 MAP3K3 mitogen-activated protein kinase kinase kinase 3 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 MAPKKK3 "MAP/ERK kinase kinase 3|MAPK/ERK kinase kinase 3" MEKK3 Mitogen-activated protein kinase kinase kinases 654 1997-11-14 2023-01-20 4215 ENSG00000198909 OTTHUMG00000178905 uc002jbg.4 U78876 NM_002401 "CCDS86624|CCDS32701|CCDS82186|CCDS32702" Q99759 9006902 MGI:1346874 RGD:1304575 602539 objectId:2078 HGNC:6855 "ENST00000361733.8|NM_002401.5" +HGNC:6856 MAP3K4 mitogen-activated protein kinase kinase kinase 4 protein-coding gene gene with protein product Approved 6q26 06q26 "MTK1|MAPKKK4|KIAA0213" MEKK4 Mitogen-activated protein kinase kinase kinases 654 1997-11-14 2023-01-20 4216 ENSG00000085511 OTTHUMG00000015968 uc003qtn.4 AF002715 NM_001291958 "CCDS87464|CCDS34565|CCDS34566|CCDS75544" Q9Y6R4 9305639 MGI:1346875 RGD:1311192 602425 objectId:2079 HGNC:6856 "ENST00000392142.9|NM_005922.4" HGNC:55048 MAP3K4-AS1 MAP3K4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q26 06q26 Antisense RNAs 1987 2020-06-03 2020-06-03 117981787 ENSG00000272841 AK094629 NR_174962 32468015 HGNC:6857 MAP3K5 mitogen-activated protein kinase kinase kinase 5 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "MAPKKK5|ASK1" apoptosis signal regulating kinase 1 MEKK5 Mitogen-activated protein kinase kinase kinases 654 1997-11-14 2023-01-20 4217 ENSG00000197442 OTTHUMG00000015647 uc003qhc.4 U67156 NM_005923 CCDS5179 Q99683 9465908 MGI:1346876 RGD:1306565 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MAP3K5 602448 objectId:2080 HGNC:6857 "ENST00000359015.5|NM_005923.4" HGNC:40358 MAP3K5-AS1 MAP3K5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 Antisense RNAs 1987 2019-08-16 2020-01-22 101928461 ENSG00000234263 OTTHUMG00000015645 NR_125858 HGNC:40358 HGNC:56125 MAP3K5-AS2 MAP3K5 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 Antisense RNAs 1987 2022-01-10 2022-01-10 2022-01-10 101928429 ENSG00000286646 NR_134635 HGNC:6858 MAP3K6 mitogen-activated protein kinase kinase kinase 6 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "MAPKKK6|ASK2|MEKK6" apoptosis signal regulating kinase 2 Mitogen-activated protein kinase kinase kinases 654 1999-09-07 2023-01-20 9064 ENSG00000142733 OTTHUMG00000004631 uc057dvi.1 AF100318 NM_004672 "CCDS72738|CCDS299" O95382 9875215 MGI:1855691 RGD:1304625 LRG_1086|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1086.xml 604468 419381 objectId:2081 HGNC:6858 "ENST00000357582.3|NM_004672.5" HGNC:6858 -HGNC:6859 MAP3K7 mitogen-activated protein kinase kinase kinase 7 protein-coding gene gene with protein product Approved 6q15 06q15 MEKK7 TGF-beta activated kinase 1 TAK1 Mitogen-activated protein kinase kinase kinases 654 1998-05-22 2023-01-20 6885 ENSG00000135341 OTTHUMG00000015217 uc003pnz.3 AB009356 NM_145331 "CCDS5028|CCDS5027|CCDS5029|CCDS5030" O43318 9466656 MGI:1346877 RGD:1309438 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MAP3K7 602614 466382 objectId:2082 HGNC:6859 "ENST00000369329.8|NM_145331.3" HGNC:6859 -HGNC:16457 MAP3K7CL MAP3K7 C-terminal like protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "TAKL|TAK1L|TAKL-1|TAKL-2|TAKL-4" C21orf7 chromosome 21 open reading frame 7 2001-08-24 2013-02-22 2013-02-22 2023-01-20 56911 ENSG00000156265 OTTHUMG00000078806 uc002yne.5 AF269161 NM_020152 "CCDS74775|CCDS68182|CCDS13584" P57077 MGI:2446584 RGD:1359474 611110 HGNC:16457 "ENST00000399928.6|NM_001286620.2" +HGNC:6859 MAP3K7 mitogen-activated protein kinase kinase kinase 7 protein-coding gene gene with protein product Approved 6q15 06q15 MEKK7 TGF-beta activated kinase 1 TAK1 Mitogen-activated protein kinase kinase kinases 654 1998-05-22 2023-01-20 6885 ENSG00000135341 OTTHUMG00000015217 uc003pnz.3 AB009356 NM_145331 "CCDS5028|CCDS5030|CCDS5027|CCDS5029" O43318 9466656 MGI:1346877 RGD:1309438 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MAP3K7 602614 466382 objectId:2082 HGNC:6859 "ENST00000369329.8|NM_145331.3" HGNC:6859 +HGNC:16457 MAP3K7CL MAP3K7 C-terminal like protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "TAKL|TAK1L|TAKL-1|TAKL-2|TAKL-4" C21orf7 chromosome 21 open reading frame 7 2001-08-24 2013-02-22 2013-02-22 2023-01-20 56911 ENSG00000156265 OTTHUMG00000078806 uc002yne.5 AF269161 NM_020152 "CCDS68182|CCDS13584|CCDS74775" P57077 MGI:2446584 RGD:1359474 611110 HGNC:16457 "ENST00000399928.6|NM_001286620.2" HGNC:6860 MAP3K8 mitogen-activated protein kinase kinase kinase 8 protein-coding gene gene with protein product Approved 10p11.23 10p11.23 "Tpl-2|EST|c-COT|MEKK8" "COT|ESTF" Mitogen-activated protein kinase kinase kinases 654 1992-09-14 2023-01-20 1326 ENSG00000107968 OTTHUMG00000017889 uc001ivi.3 D14497 NM_005204 CCDS7166 P41279 "2072910|8479752" MGI:1346878 RGD:620969 191195 objectId:2083 HGNC:6860 "ENST00000263056.6|NM_005204.4" -HGNC:6861 MAP3K9 mitogen-activated protein kinase kinase kinase 9 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "PRKE1|MEKK9" MLK1 Mitogen-activated protein kinase kinase kinases 654 1993-12-15 2023-03-15 4293 ENSG00000006432 OTTHUMG00000171249 uc001xml.5 AF251442 NM_001284230 "CCDS61488|CCDS32112|CCDS61485" P80192 MGI:2449952 RGD:1562149 600136 objectId:2084 HGNC:6861 "ENST00000554752.7|NM_001284230.2" +HGNC:6861 MAP3K9 mitogen-activated protein kinase kinase kinase 9 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "PRKE1|MEKK9" MLK1 Mitogen-activated protein kinase kinase kinases 654 1993-12-15 2023-03-15 4293 ENSG00000006432 OTTHUMG00000171249 uc001xml.5 AF251442 NM_001284230 "CCDS61485|CCDS32112|CCDS61488" P80192 MGI:2449952 RGD:1562149 600136 objectId:2084 HGNC:6861 "ENST00000554752.7|NM_001284230.2" HGNC:53189 MAP3K9-DT MAP3K9 divergent transcript non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 lincNMR long intergenic noncoding RNA–nucleotide metabolism regulator Divergent transcripts 1990 2021-01-08 2022-12-23 100506411 ENSG00000259153 OTTHUMG00000171250 NR_184163 "36335471|32587247" HGNC:6849 MAP3K10 mitogen-activated protein kinase kinase kinase 10 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "MST|MEKK10" "MKN28 kinase|mixed lineage kinase 2|MKN28 derived nonreceptor_type serine/threonine kinase" MLK2 Mitogen-activated protein kinase kinase kinases 654 1994-10-07 2023-01-20 4294 ENSG00000130758 OTTHUMG00000182591 uc002ona.3 X90846 NM_002446 CCDS12549 Q02779 "8536694|7731697" MGI:1346879 RGD:1308381 600137 objectId:2070 2.7.11.1 HGNC:6849 "ENST00000253055.8|NM_002446.4" HGNC:6850 MAP3K11 mitogen-activated protein kinase kinase kinase 11 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "SPRK|MEKK11" "MLK3|PTK1" Mitogen-activated protein kinase kinase kinases 654 1992-10-02 2023-01-20 4296 ENSG00000173327 OTTHUMG00000166529 uc001oew.4 NM_002419 CCDS8107 Q16584 "9267807|8183572" MGI:1346880 RGD:1359261 600050 objectId:2071 2.7.10.1 HGNC:6850 "ENST00000309100.8|NM_002419.4" HGNC:6851 MAP3K12 mitogen-activated protein kinase kinase kinase 12 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MUK|DLK|ZPKP1|MEKK12" dual leucine zipper kinase DLK ZPK Mitogen-activated protein kinase kinase kinases 654 1994-09-29 2023-01-20 7786 ENSG00000139625 OTTHUMG00000169854 uc001sdm.3 U07358 NM_006301 "CCDS55831|CCDS8860" Q12852 8037767 MGI:1346881 RGD:3988 600447 objectId:2072 HGNC:6851 "ENST00000547488.6|NM_001193511.2" -HGNC:6852 MAP3K13 mitogen-activated protein kinase kinase kinase 13 protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "LZK|MEKK13" leucine zipper-bearing kinase Mitogen-activated protein kinase kinase kinases 654 1999-09-07 2023-01-20 9175 ENSG00000073803 OTTHUMG00000156673 uc010hyf.4 BC031677 NM_004721 "CCDS3270|CCDS56298" O43283 9353328 MGI:2444243 RGD:1561227 MAP3K13 604915 objectId:2073 HGNC:6852 "ENST00000265026.8|NM_004721.5" +HGNC:6852 MAP3K13 mitogen-activated protein kinase kinase kinase 13 protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "LZK|MEKK13" leucine zipper-bearing kinase Mitogen-activated protein kinase kinase kinases 654 1999-09-07 2023-01-20 9175 ENSG00000073803 OTTHUMG00000156673 uc010hyf.4 BC031677 NM_004721 "CCDS56298|CCDS3270" O43283 9353328 MGI:2444243 RGD:1561227 MAP3K13 604915 objectId:2073 HGNC:6852 "ENST00000265026.8|NM_004721.5" HGNC:6853 MAP3K14 mitogen-activated protein kinase kinase kinase 14 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "NIK|HSNIK|FTDCR1B|HS" serine/threonine protein-kinase Mitogen-activated protein kinase kinase kinases 654 2000-08-11 2023-01-20 9020 ENSG00000006062 OTTHUMG00000180364 uc032fjz.2 Y10256 NM_003954 CCDS74079 Q99558 9020361 MGI:1858204 RGD:1310487 LRG_1222|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1222.xml 604655 457451 objectId:2074 2.7.11.25 HGNC:6853 "ENST00000344686.8|NM_003954.5" HGNC:6853 HGNC:44359 MAP3K14-AS1 MAP3K14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Antisense RNAs 1987 2012-08-17 2014-06-16 100133991 ENSG00000267278 OTTHUMG00000180362 uc032fjv.2 "AK311429|BC031942" NR_024434 MAP3K14-AS1 HGNC:44359 HGNC:31689 MAP3K15 mitogen-activated protein kinase kinase kinase 15 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "bA723P2.3|FLJ16518|ASK3" Mitogen-activated protein kinase kinase kinases 654 2005-01-24 2023-01-20 389840 ENSG00000180815 OTTHUMG00000022724 uc022btq.2 AK131412 NM_001001671 CCDS35212 Q6ZN16 "20362554|23250415" MGI:2448588 RGD:1560603 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP3K15 300820 objectId:2075 HGNC:31689 "ENST00000338883.9|NM_001001671.4" -HGNC:26249 MAP3K19 mitogen-activated protein kinase kinase kinase 19 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "FLJ23074|RCK" YSK4 "Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)|yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)|YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)" Mitogen-activated protein kinase kinase kinases 654 2005-05-09 2012-10-16 2012-10-16 2023-01-20 80122 ENSG00000176601 OTTHUMG00000074083 uc002tue.2 AK026727 NM_025052 "CCDS63020|CCDS2176|CCDS33293|CCDS63021|CCDS63022" Q56UN5 27144281 MGI:1203481 RGD:1566400 objectId:2076 HGNC:26249 "ENST00000392915.7|NM_025052.5" -HGNC:17797 MAP3K20 mitogen-activated protein kinase kinase kinase 20 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "MLTKalpha|MLTKbeta|ZAK|MLTK|MLK7|MRK" "ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)|mixed lineage kinase 7" Mitogen-activated protein kinase kinase kinases 654 2016-10-19 2023-01-20 51776 ENSG00000091436 OTTHUMG00000132297 AB049733 NM_016653 "CCDS42777|CCDS2251" Q9NYL2 10924358 MGI:2443258 RGD:1561394 609479 objectId:2289 HGNC:17797 "ENST00000375213.8|NM_016653.3" HGNC:17797 +HGNC:26249 MAP3K19 mitogen-activated protein kinase kinase kinase 19 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "FLJ23074|RCK" YSK4 "Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)|yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)|YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)" Mitogen-activated protein kinase kinase kinases 654 2005-05-09 2012-10-16 2012-10-16 2023-01-20 80122 ENSG00000176601 OTTHUMG00000074083 uc002tue.2 AK026727 NM_025052 "CCDS63022|CCDS63021|CCDS63020|CCDS2176|CCDS33293" Q56UN5 27144281 MGI:1203481 RGD:1566400 objectId:2076 HGNC:26249 "ENST00000392915.7|NM_025052.5" +HGNC:17797 MAP3K20 mitogen-activated protein kinase kinase kinase 20 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "MLTKalpha|MLTKbeta|ZAK|MLTK|MLK7|MRK" "ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)|mixed lineage kinase 7" Mitogen-activated protein kinase kinase kinases 654 2016-10-19 2023-01-20 51776 ENSG00000091436 OTTHUMG00000132297 AB049733 NM_016653 "CCDS2251|CCDS42777" Q9NYL2 10924358 MGI:2443258 RGD:1561394 609479 objectId:2289 HGNC:17797 "ENST00000375213.8|NM_016653.3" HGNC:17797 HGNC:27935 MAP3K20-AS1 MAP3K20 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 MLK7-AS1 "MLK7 antisense RNA 1 (non-protein coding)|MLK7 antisense RNA 1" Antisense RNAs 1987 2011-04-28 2016-11-25 2016-11-25 2022-01-10 339751 ENSG00000238133 OTTHUMG00000154109 uc002uib.4 BC040565 NR_033882 29428732 HGNC:27935 HGNC:29798 MAP3K21 mitogen-activated protein kinase kinase kinase 21 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "KIAA1804|MLK4" mixed lineage kinase 4 Mitogen-activated protein kinase kinase kinases 654 2016-10-19 2023-01-20 84451 ENSG00000143674 OTTHUMG00000037889 AJ311797 NM_032435 CCDS1598 Q5TCX8 11347906 MGI:2385307 RGD:1306091 614793 HGNC:29798 "ENST00000366624.8|NM_032435.3" HGNC:6862 MAP4 microtubule associated protein 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 1991-07-16 2015-11-16 2023-03-15 4134 ENSG00000047849 OTTHUMG00000156828 uc003csb.3 NM_002375 "CCDS93263|CCDS46821|CCDS33750|CCDS46818" P27816 1905296 MGI:97178 RGD:1564359 157132 470630 HGNC:6862 "ENST00000683076.1|NM_001385682.1" HGNC:6863 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HPK1 hematopoietic progenitor kinase 1 Mitogen-activated protein kinase kinase kinase kinases 655 1999-09-07 2023-01-20 11184 ENSG00000104814 OTTHUMG00000180863 uc002oiy.3 U66464 NM_001042600 "CCDS42564|CCDS59385" Q92918 8824585 MGI:1346882 RGD:1305463 601983 objectId:2085 2.7.11.1 HGNC:6863 "ENST00000396857.7|NM_001042600.3" HGNC:55302 MAP4K1-AS1 MAP4K1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 Antisense RNAs 1987 2020-10-15 2020-10-15 105372397 ENSG00000267291 NR_134907 -HGNC:6864 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "GCK|BL44" RAB8IP Mitogen-activated protein kinase kinase kinase kinases 655 1997-08-18 2023-01-20 5871 ENSG00000168067 OTTHUMG00000045328 uc001obh.4 BC047865 NM_004579 "CCDS8082|CCDS81582" Q12851 7515885 MGI:1346883 RGD:1308199 603166 objectId:2086 HGNC:6864 "ENST00000294066.7|NM_004579.5" -HGNC:6865 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "GLK|MAPKKKK3" RAB8IPL1 Mitogen-activated protein kinase kinase kinase kinases 655 1998-10-14 2023-01-20 8491 ENSG00000011566 OTTHUMG00000102127 uc002rro.4 AF000145 NM_003618 "CCDS1803|CCDS92741|CCDS58707" Q8IVH8 9275185 MGI:2154405 RGD:621280 604921 objectId:2087 HGNC:6865 "ENST00000263881.8|NM_003618.4" +HGNC:6864 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "GCK|BL44" RAB8IP Mitogen-activated protein kinase kinase kinase kinases 655 1997-08-18 2023-01-20 5871 ENSG00000168067 OTTHUMG00000045328 uc001obh.4 BC047865 NM_004579 "CCDS81582|CCDS8082" Q12851 7515885 MGI:1346883 RGD:1308199 603166 objectId:2086 HGNC:6864 "ENST00000294066.7|NM_004579.5" +HGNC:6865 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "GLK|MAPKKKK3" RAB8IPL1 Mitogen-activated protein kinase kinase kinase kinases 655 1998-10-14 2023-01-20 8491 ENSG00000011566 OTTHUMG00000102127 uc002rro.4 AF000145 NM_003618 "CCDS58707|CCDS92741|CCDS1803" Q8IVH8 9275185 MGI:2154405 RGD:621280 604921 objectId:2087 HGNC:6865 "ENST00000263881.8|NM_003618.4" HGNC:54056 MAP4K3-DT MAP4K3 divergent transcript non-coding RNA RNA, long non-coding Approved 2p22.1 02p22.1 Divergent transcripts 1990 2018-09-26 2018-09-26 728730 ENSG00000231312 NR_037875 HGNC:54056 -HGNC:6866 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "HGK|NIK|FLH21957" "HPK/GCK-like kinase|hepatocyte progenitor kinase-like/germinal center kinase-like kinase" Mitogen-activated protein kinase kinase kinase kinases 655 1999-09-07 2023-01-20 9448 ENSG00000071054 OTTHUMG00000155394 uc061mks.1 AF096300 NM_004834 "CCDS92822|CCDS92821|CCDS56130|CCDS82487|CCDS74546|CCDS92823" O95819 "9890973|9734811|9135144" MGI:1349394 RGD:1305322 604666 objectId:2088 HGNC:6866 "ENST00000324219.9|NM_001395002.1" +HGNC:6866 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "HGK|NIK|FLH21957" "HPK/GCK-like kinase|hepatocyte progenitor kinase-like/germinal center kinase-like kinase" Mitogen-activated protein kinase kinase kinase kinases 655 1999-09-07 2023-01-20 9448 ENSG00000071054 OTTHUMG00000155394 uc061mks.1 AF096300 NM_004834 "CCDS82487|CCDS56130|CCDS74546|CCDS92823|CCDS92822|CCDS92821" O95819 "9890973|9734811|9135144" MGI:1349394 RGD:1305322 604666 objectId:2088 HGNC:6866 "ENST00000324219.9|NM_001395002.1" HGNC:6867 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "KHS1|GCKR|KHS" germinal center kinase-related Mitogen-activated protein kinase kinase kinase kinases 655 1999-09-07 2023-01-20 11183 ENSG00000012983 OTTHUMG00000170888 uc001wyb.4 U77129 NM_006575 CCDS91875 Q9Y4K4 "9038372|8274451" MGI:1925503 RGD:1562028 604923 objectId:2089 HGNC:6867 "ENST00000682126.1|NM_006575.6" -HGNC:6868 MAP6 microtubule associated protein 6 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "KIAA1878|STOP|FLJ41346|MAP6-N" 1998-02-26 2015-11-16 2023-01-20 4135 ENSG00000171533 OTTHUMG00000165343 uc001owu.4 AK123340 NM_033063 "CCDS31641|CCDS44686" Q96JE9 "10516426|12231625" MGI:1201690 RGD:61804 601783 HGNC:6868 "ENST00000304771.8|NM_033063.2" +HGNC:6868 MAP6 microtubule associated protein 6 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "KIAA1878|STOP|FLJ41346|MAP6-N" 1998-02-26 2015-11-16 2023-01-20 4135 ENSG00000171533 OTTHUMG00000165343 uc001owu.4 AK123340 NM_033063 "CCDS44686|CCDS31641" Q96JE9 "10516426|12231625" MGI:1201690 RGD:61804 601783 HGNC:6868 "ENST00000304771.8|NM_033063.2" HGNC:25753 MAP6D1 MAP6 domain containing 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "FLJ12748|SL21" STOP-Like protein 21 kD 2005-12-22 2023-01-20 79929 ENSG00000180834 OTTHUMG00000156900 uc003fmc.3 BC006434 NM_024871 CCDS3247 Q9H9H5 25526643 MGI:3607784 RGD:1560102 610593 HGNC:25753 "ENST00000318631.8|NM_024871.4" -HGNC:6869 MAP7 microtubule associated protein 7 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 E-MAP-115 ensconsin 1999-01-22 2015-11-16 2023-01-20 9053 ENSG00000135525 OTTHUMG00000015646 uc003qgz.4 X73882 NM_003980 "CCDS56455|CCDS5178|CCDS56453|CCDS75528|CCDS75529|CCDS56454|CCDS56452|CCDS75527" Q14244 8408219 MGI:1328328 RGD:1308866 604108 HGNC:6869 "ENST00000354570.8|NM_003980.6" +HGNC:6869 MAP7 microtubule associated protein 7 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 E-MAP-115 ensconsin 1999-01-22 2015-11-16 2023-01-20 9053 ENSG00000135525 OTTHUMG00000015646 uc003qgz.4 X73882 NM_003980 "CCDS75529|CCDS56453|CCDS75528|CCDS5178|CCDS56452|CCDS56455|CCDS75527|CCDS56454" Q14244 8408219 MGI:1328328 RGD:1308866 604108 HGNC:6869 "ENST00000354570.8|NM_003980.6" HGNC:56045 MAP7-AS1 MAP7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 Antisense RNAs 1987 2021-12-08 2021-12-08 123706512 ENSG00000272189 -HGNC:25514 MAP7D1 MAP7 domain containing 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ10350|FLJ39022" "PARCC1|RPRC1" "proline arginine rich coiled coil 1|arginine/proline rich coiled-coil 1" 2005-06-03 2007-02-08 2007-02-08 2023-01-20 55700 ENSG00000116871 OTTHUMG00000007714 uc001bzz.5 AK096341 NM_018067 "CCDS65493|CCDS90916|CCDS30673|CCDS65492" Q3KQU3 10574461 MGI:2384297 RGD:1597986 HGNC:25514 "ENST00000474796.2|NM_001388490.1" -HGNC:25899 MAP7D2 MAP7 domain containing 2 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 FLJ14503 MicroRNA protein coding host genes 1691 2007-02-08 2023-01-20 256714 ENSG00000184368 OTTHUMG00000021228 uc004czr.3 BC089400 NM_152780 "CCDS14195|CCDS55386|CCDS55385|CCDS55384" Q96T17 12477932 MGI:1917474 RGD:1564852 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP7D2 HGNC:25899 "ENST00000379643.10|NM_001168465.2" -HGNC:25742 MAP7D3 MAP7 domain containing 3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 FLJ12649 2007-02-08 2023-01-20 79649 ENSG00000129680 OTTHUMG00000022507 uc011mwc.4 AL832120 NM_001173516 "CCDS55508|CCDS55509|CCDS44004" Q8IWC1 24927501 MGI:2445051 RGD:1565514 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP7D3 300930 HGNC:25742 "ENST00000316077.14|NM_024597.4" +HGNC:25514 MAP7D1 MAP7 domain containing 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ10350|FLJ39022" "PARCC1|RPRC1" "proline arginine rich coiled coil 1|arginine/proline rich coiled-coil 1" 2005-06-03 2007-02-08 2007-02-08 2023-01-20 55700 ENSG00000116871 OTTHUMG00000007714 uc001bzz.5 AK096341 NM_018067 "CCDS90916|CCDS65493|CCDS30673|CCDS65492" Q3KQU3 10574461 MGI:2384297 RGD:1597986 HGNC:25514 "ENST00000474796.2|NM_001388490.1" +HGNC:25899 MAP7D2 MAP7 domain containing 2 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 FLJ14503 MicroRNA protein coding host genes 1691 2007-02-08 2023-01-20 256714 ENSG00000184368 OTTHUMG00000021228 uc004czr.3 BC089400 NM_152780 "CCDS55384|CCDS14195|CCDS55385|CCDS55386" Q96T17 12477932 MGI:1917474 RGD:1564852 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP7D2 HGNC:25899 "ENST00000379643.10|NM_001168465.2" +HGNC:25742 MAP7D3 MAP7 domain containing 3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 FLJ12649 2007-02-08 2023-01-20 79649 ENSG00000129680 OTTHUMG00000022507 uc011mwc.4 AL832120 NM_001173516 "CCDS44004|CCDS55509|CCDS55508" Q8IWC1 24927501 MGI:2445051 RGD:1565514 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP7D3 300930 HGNC:25742 "ENST00000316077.14|NM_024597.4" HGNC:26118 MAP9 microtubule associated protein 9 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "ASAP|FLJ21159" aster-associated protein 2006-06-15 2015-11-16 2023-03-15 79884 ENSG00000164114 OTTHUMG00000133628 uc003ios.4 AK024812 NM_001039580 CCDS35493 Q49MG5 16049101 MGI:2442208 RGD:1560368 610070 HGNC:26118 "ENST00000311277.9|NM_001039580.2" HGNC:56110 MAP9-AS1 MAP9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q32.1 04q32.1 Antisense RNAs 1987 2022-01-06 2022-01-06 102724776 ENSG00000250910 NR_125937 HGNC:29265 MAP10 microtubule associated protein 10 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 MTR120 microtubule regulator 120 KDa KIAA1383 KIAA1383 2005-07-13 2013-02-12 2015-11-16 2023-01-20 54627 ENSG00000212916 OTTHUMG00000037819 uc001hvh.3 AB037804 NM_019090 CCDS44334 Q9P2G4 23264731 MGI:1921643 RGD:1308644 618551 HGNC:29265 "ENST00000418460.4|NM_019090.3" HGNC:6871 MAPK1 mitogen-activated protein kinase 1 protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "ERK|ERK2|p41mapk|MAPK2" "PRKM2|PRKM1" Mitogen-activated protein kinases 651 1993-11-05 2023-01-20 5594 ENSG00000100030 OTTHUMG00000030508 uc002zvn.4 M84489 NM_002745 CCDS13795 P28482 MGI:1346858 RGD:70500 LRG_786|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_786.xml MAPK1 176948 159910 objectId:1495 2.7.11.1 HGNC:6871 "ENST00000215832.11|NM_002745.5" HGNC:19840 MAPK1IP1L mitogen-activated protein kinase 1 interacting protein 1 like protein-coding gene gene with protein product Approved 14q22.3 14q22.3 C14orf32 chromosome 14 open reading frame 32 2002-11-27 2008-01-16 2016-07-01 2023-01-20 93487 ENSG00000168175 OTTHUMG00000171029 uc001xbq.2 AK025580 NM_144578 CCDS32085 Q8NDC0 12011110 MGI:2444022 RGD:1311455 617226 HGNC:19840 "ENST00000395468.9|NM_144578.4" HGNC:6877 MAPK3 mitogen-activated protein kinase 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "ERK1|p44mapk|p44erk1" PRKM3 Mitogen-activated protein kinases 651 1993-11-05 2023-01-20 5595 ENSG00000102882 OTTHUMG00000132149 uc002dws.4 M84490 NM_001040056 "CCDS10672|CCDS42148|CCDS42149" P27361 9628824 MGI:1346859 RGD:3046 601795 objectId:1494 2.7.11.1 HGNC:6877 "ENST00000263025.9|NM_002746.3" -HGNC:6878 MAPK4 mitogen-activated protein kinase 4 protein-coding gene gene with protein product Approved 18q21.1-q21.2 18q21.1-q21.2 "Erk3-related|Erk4" PRKM4 Mitogen-activated protein kinases 651 1993-11-08 2023-01-20 5596 ENSG00000141639 OTTHUMG00000179853 uc002lev.4 X59727 NM_002747 "CCDS42437|CCDS77189|CCDS77188" P31152 8290275 MGI:2444559 RGD:3047 176949 objectId:2091 HGNC:6878 "ENST00000400384.7|NM_002747.4" +HGNC:6878 MAPK4 mitogen-activated protein kinase 4 protein-coding gene gene with protein product Approved 18q21.1-q21.2 18q21.1-q21.2 "Erk3-related|Erk4" PRKM4 Mitogen-activated protein kinases 651 1993-11-08 2023-01-20 5596 ENSG00000141639 OTTHUMG00000179853 uc002lev.4 X59727 NM_002747 "CCDS77188|CCDS42437|CCDS77189" P31152 8290275 MGI:2444559 RGD:3047 176949 objectId:2091 HGNC:6878 "ENST00000400384.7|NM_002747.4" HGNC:6879 MAPK6 mitogen-activated protein kinase 6 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "ERK3|p97MAPK|HsT17250" PRKM6 Mitogen-activated protein kinases 651 1998-04-28 2023-01-20 5597 ENSG00000069956 OTTHUMG00000131891 uc002abp.4 L77964 NM_002748 CCDS10147 Q16659 8875998 MGI:1354946 RGD:62087 602904 objectId:2092 HGNC:6879 "ENST00000261845.7|NM_002748.4" HGNC:53900 MAPK6-DT MAPK6 divergent transcript non-coding RNA RNA, long non-coding Approved 15q21.2 15q21.2 lncMAPK6 Divergent transcripts 1990 2018-05-17 2021-01-07 112543478 ENSG00000259438 NR_156732 29764463 HGNC:53900 HGNC:18980 MAPK6P1 mitogen-activated protein kinase 6 pseudogene 1 pseudogene pseudogene Approved 8q11.23 08q11.23 Erk3ps1 MAPK6PS1 2004-04-16 2018-05-23 2018-05-23 317686 ENSG00000206144 OTTHUMG00000160523 NG_002454 12504858 PGOHUM00000303547 HGNC:18980 @@ -17998,49 +18000,49 @@ HGNC:18456 MAPK6P4 mitogen-activated protein kinase 6 pseudogene 4 pseudogene ps HGNC:18979 MAPK6P5 mitogen-activated protein kinase 6 pseudogene 5 pseudogene pseudogene Approved 8q23.1 08q23.1 MAPK6PS5 2004-04-16 2018-05-23 2018-05-23 286156 ENSG00000254185 OTTHUMG00000164935 NG_002452 12504858 PGOHUM00000303659 HGNC:18979 HGNC:18978 MAPK6P6 mitogen-activated protein kinase 6 pseudogene 6 pseudogene pseudogene Approved 10q11.23 10q11.23 MAPK6PS6 2004-04-16 2018-05-23 2018-05-23 282967 ENSG00000226389 OTTHUMG00000018197 NG_002449 12504858 PGOHUM00000290154 HGNC:18978 HGNC:6880 MAPK7 mitogen-activated protein kinase 7 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "BMK1|ERK5" "BMK1 kinase|extracellular-signal-regulated kinase 5" PRKM7 "Mitogen-activated protein kinases|Armadillo like helical domain containing" "651|1492" 1998-04-28 2023-01-20 5598 ENSG00000166484 OTTHUMG00000059587 uc002gvn.4 U25278 NM_139033 "CCDS11206|CCDS11207" Q13164 "10072598|7759517" MGI:1346347 RGD:621505 602521 objectId:2093 2.7.11.24 HGNC:6880 "ENST00000395604.8|NM_002749.4" -HGNC:6881 MAPK8 mitogen-activated protein kinase 8 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "JNK|JNK1|SAPK1" JUN N-terminal kinase PRKM8 Mitogen-activated protein kinases 651 1998-04-28 2023-01-20 5599 ENSG00000107643 OTTHUMG00000018172 uc001jgn.5 L26318 NM_001278547 "CCDS7223|CCDS7224|CCDS7225|CCDS60527|CCDS7226" P45983 "8137421|8654373" MGI:1346861 RGD:621506 601158 objectId:1496 2.7.11.1 HGNC:6881 "ENST00000374189.6|NM_001323329.2" +HGNC:6881 MAPK8 mitogen-activated protein kinase 8 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "JNK|JNK1|SAPK1" JUN N-terminal kinase PRKM8 Mitogen-activated protein kinases 651 1998-04-28 2023-01-20 5599 ENSG00000107643 OTTHUMG00000018172 uc001jgn.5 L26318 NM_001278547 "CCDS60527|CCDS7225|CCDS7224|CCDS7223|CCDS7226" P45983 "8137421|8654373" MGI:1346861 RGD:621506 601158 objectId:1496 2.7.11.1 HGNC:6881 "ENST00000374189.6|NM_001323329.2" HGNC:6882 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "IB1|JIP-1|JIP1" PRKM8IP 1999-06-11 2023-01-20 9479 ENSG00000121653 OTTHUMG00000134324 uc001nbr.4 NM_005456 CCDS7916 Q9UQF2 "9235893|9442013" MGI:1309464 RGD:70937 604641 HGNC:6882 "ENST00000241014.6|NM_005456.4" HGNC:6882 HGNC:6885 MAPK8IP1P1 mitogen-activated protein kinase 8 interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 "PRKM8IPP|MAPK8IPP" mitogen-activated protein kinase 8 interacting protein, pseudogene 1999-06-11 2016-10-23 2016-10-23 2016-10-23 644253 ENSG00000262500 OTTHUMG00000178029 NG_022469 9933567 PGOHUM00000294457 HGNC:6885 HGNC:52402 MAPK8IP1P2 mitogen-activated protein kinase 8 interacting protein 1 pseudogene 2 pseudogene pseudogene Approved 17q21.31 17q21.31 2016-10-23 2016-10-23 644172 ENSG00000263503 OTTHUMG00000178260 NR_026901 PGOHUM00000294132 HGNC:52402 HGNC:6883 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "IB2|JIP2" "islet-brain 2|JNK-interacting protein 2" PRKM8IPL PRKM8 interacting protein-like 1999-10-12 2023-01-20 23542 ENSG00000008735 OTTHUMG00000150181 uc032qrw.2 AL021708 NM_012324 CCDS74886 Q13387 10490659 MGI:1926555 RGD:1309727 607755 HGNC:6883 "ENST00000329492.6|NM_012324.6" HGNC:6884 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA1066|JSAP1|JIP3|syd" homolog of Drosophila Sunday driver 2 MicroRNA protein coding host genes 1691 2000-08-22 2023-01-20 23162 ENSG00000138834 OTTHUMG00000128637 uc002cmk.4 AB028989 NM_001040439 "CCDS45379|CCDS10442|CCDS81929" Q9UPT6 "10523642|10629060" MGI:1353598 RGD:1563691 605431 HGNC:6884 "ENST00000610761.2|NM_001318852.2" HGNC:6884 HGNC:56087 MAPK8IP3-AS1 MAPK8IP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2021-12-20 2021-12-20 101929480 ENSG00000261399 NR_184234 -HGNC:6886 MAPK9 mitogen-activated protein kinase 9 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "JNK2|p54a|SAPK" Jun kinase PRKM9 Mitogen-activated protein kinases 651 1998-04-28 2023-01-20 5601 ENSG00000050748 OTTHUMG00000130934 uc010jlc.4 U09759 NM_001135044 "CCDS47356|CCDS4454|CCDS4453|CCDS43410|CCDS43409|CCDS78103" P45984 8001819 MGI:1346862 RGD:628847 602896 objectId:1497 2.7.11.1 HGNC:6886 "ENST00000452135.7|NM_002752.5" -HGNC:6872 MAPK10 mitogen-activated protein kinase 10 protein-coding gene gene with protein product Approved 4q21.3 04q21.3 "JNK3|p493F12|p54bSAPK" PRKM10 "Mitogen-activated protein kinases|MicroRNA protein coding host genes" "651|1691" 1998-04-28 2023-03-15 5602 ENSG00000109339 OTTHUMG00000130604 uc003hpr.4 U07620 NM_001318067 "CCDS87243|CCDS87241|CCDS43247|CCDS34026|CCDS87242|CCDS93556|CCDS3612" P53779 "8654373|12436199" MGI:1346863 RGD:3663 602897 248276 objectId:1498 2.7.11.1 HGNC:6872 "ENST00000641462.2|NM_138982.4" HGNC:6872 +HGNC:6886 MAPK9 mitogen-activated protein kinase 9 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "JNK2|p54a|SAPK" Jun kinase PRKM9 Mitogen-activated protein kinases 651 1998-04-28 2023-01-20 5601 ENSG00000050748 OTTHUMG00000130934 uc010jlc.4 U09759 NM_001135044 "CCDS4454|CCDS43410|CCDS78103|CCDS43409|CCDS47356|CCDS4453" P45984 8001819 MGI:1346862 RGD:628847 602896 objectId:1497 2.7.11.1 HGNC:6886 "ENST00000452135.7|NM_002752.5" +HGNC:6872 MAPK10 mitogen-activated protein kinase 10 protein-coding gene gene with protein product Approved 4q21.3 04q21.3 "JNK3|p493F12|p54bSAPK" PRKM10 "Mitogen-activated protein kinases|MicroRNA protein coding host genes" "651|1691" 1998-04-28 2023-03-15 5602 ENSG00000109339 OTTHUMG00000130604 uc003hpr.4 U07620 NM_001318067 "CCDS87242|CCDS87243|CCDS34026|CCDS3612|CCDS93556|CCDS43247|CCDS87241" P53779 "8654373|12436199" MGI:1346863 RGD:3663 602897 248276 objectId:1498 2.7.11.1 HGNC:6872 "ENST00000641462.2|NM_138982.4" HGNC:6872 HGNC:40359 MAPK10-AS1 MAPK10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.3 04q21.3 Antisense RNAs 1987 2019-08-16 2019-08-16 101929064 ENSG00000250062 OTTHUMG00000161054 NR_110879 HGNC:40359 HGNC:6873 MAPK11 mitogen-activated protein kinase 11 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "p38-2|p38Beta|SAPK2" PRKM11 Mitogen-activated protein kinases 651 1998-04-28 2023-01-20 5600 ENSG00000185386 OTTHUMG00000150226 uc003bkr.4 Y14440 NM_002751 CCDS14090 Q15759 9218798 MGI:1338024 RGD:1309340 602898 objectId:1500 2.7.11.1 HGNC:6873 "ENST00000330651.11|NM_002751.7" -HGNC:6874 MAPK12 mitogen-activated protein kinase 12 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "ERK6|PRKM12|p38gamma|SAPK-3" SAPK3 Mitogen-activated protein kinases 651 1998-04-28 2023-01-20 6300 ENSG00000188130 OTTHUMG00000030145 uc003bkm.2 U66243 NM_002969 "CCDS77688|CCDS14089" P53778 9169156 MGI:1353438 RGD:70975 602399 objectId:1501 2.7.11.1 HGNC:6874 "ENST00000215659.13|NM_002969.6" +HGNC:6874 MAPK12 mitogen-activated protein kinase 12 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "ERK6|PRKM12|p38gamma|SAPK-3" SAPK3 Mitogen-activated protein kinases 651 1998-04-28 2023-01-20 6300 ENSG00000188130 OTTHUMG00000030145 uc003bkm.2 U66243 NM_002969 "CCDS14089|CCDS77688" P53778 9169156 MGI:1353438 RGD:70975 602399 objectId:1501 2.7.11.1 HGNC:6874 "ENST00000215659.13|NM_002969.6" HGNC:6875 MAPK13 mitogen-activated protein kinase 13 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "SAPK4|p38delta" PRKM13 Mitogen-activated protein kinases 651 1998-04-28 2023-01-20 5603 ENSG00000156711 OTTHUMG00000014587 uc003ols.5 Y10488 NM_002754 CCDS4818 O15264 "9295308|9218798" MGI:1346864 RGD:3045 602899 objectId:1502 2.7.11.1 HGNC:6875 "ENST00000211287.9|NM_002754.5" -HGNC:6876 MAPK14 mitogen-activated protein kinase 14 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "PRKM14|p38|Mxi2|PRKM15" p38 MAP kinase "CSPB1|CSBP1|CSBP2" Mitogen-activated protein kinases 651 1995-01-24 2023-01-20 1432 ENSG00000112062 OTTHUMG00000159806 uc003olp.4 L35263 NM_001315 "CCDS4817|CCDS4815|CCDS4816" Q16539 7997261 MGI:1346865 RGD:70496 600289 objectId:1499 HGNC:6876 "ENST00000229794.9|NM_139012.3" +HGNC:6876 MAPK14 mitogen-activated protein kinase 14 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "PRKM14|p38|Mxi2|PRKM15" p38 MAP kinase "CSPB1|CSBP1|CSBP2" Mitogen-activated protein kinases 651 1995-01-24 2023-01-20 1432 ENSG00000112062 OTTHUMG00000159806 uc003olp.4 L35263 NM_001315 "CCDS4816|CCDS4817|CCDS4815" Q16539 7997261 MGI:1346865 RGD:70496 600289 objectId:1499 HGNC:6876 "ENST00000229794.9|NM_139012.3" HGNC:24667 MAPK15 mitogen-activated protein kinase 15 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "ERK8|ERK7" extracellular signal regulated kinase 8 Mitogen-activated protein kinases 651 2005-04-05 2023-01-20 225689 ENSG00000181085 OTTHUMG00000146450 uc003yzj.4 AY065978 NM_139021 CCDS6409 Q8TD08 11875070 MGI:2652894 RGD:628675 618616 objectId:2090 HGNC:24667 "ENST00000338033.9|NM_139021.3" -HGNC:18752 MAPKAP1 MAPK associated protein 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "MGC2745|SIN1|MIP1" stress-activated protein kinase-interacting 1 mitogen-activated protein kinase associated protein 1 MTOR complex 2 1333 2002-07-19 2019-04-12 2023-01-20 79109 ENSG00000119487 OTTHUMG00000020683 uc004bpv.3 M37191 NM_001006617 "CCDS35140|CCDS35139|CCDS35141|CCDS48020|CCDS6864" Q9BPZ7 15363842 MGI:2444554 RGD:1305363 610558 HGNC:18752 "ENST00000265960.8|NM_001006617.3" -HGNC:6887 MAPKAPK2 MAPK activated protein kinase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 MK2 mitogen-activated protein kinase-activated protein kinase 2 MAPK activated protein kinases 1156 1999-03-26 2019-04-12 2023-01-20 9261 ENSG00000162889 OTTHUMG00000036342 uc001hem.3 U12779 NM_004759 "CCDS31001|CCDS1466" P49137 "8179591|8280084" MGI:109298 RGD:631362 602006 objectId:2094 HGNC:6887 "ENST00000367103.4|NM_032960.4" +HGNC:18752 MAPKAP1 MAPK associated protein 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "MGC2745|SIN1|MIP1" stress-activated protein kinase-interacting 1 mitogen-activated protein kinase associated protein 1 MTOR complex 2 1333 2002-07-19 2019-04-12 2023-01-20 79109 ENSG00000119487 OTTHUMG00000020683 uc004bpv.3 M37191 NM_001006617 "CCDS35139|CCDS35140|CCDS35141|CCDS48020|CCDS6864" Q9BPZ7 15363842 MGI:2444554 RGD:1305363 610558 HGNC:18752 "ENST00000265960.8|NM_001006617.3" +HGNC:6887 MAPKAPK2 MAPK activated protein kinase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 MK2 mitogen-activated protein kinase-activated protein kinase 2 MAPK activated protein kinases 1156 1999-03-26 2019-04-12 2023-01-20 9261 ENSG00000162889 OTTHUMG00000036342 uc001hem.3 U12779 NM_004759 "CCDS1466|CCDS31001" P49137 "8179591|8280084" MGI:109298 RGD:631362 602006 objectId:2094 HGNC:6887 "ENST00000367103.4|NM_032960.4" HGNC:6888 MAPKAPK3 MAPK activated protein kinase 3 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "3pK|MAPKAP3|3PK|MK-3|MK3" mitogen-activated protein kinase-activated protein kinase 3 MAPK activated protein kinases 1156 1999-03-26 2019-04-12 2023-01-20 7867 ENSG00000114738 OTTHUMG00000156850 uc003day.3 U43784 NM_004635 CCDS2832 Q16644 "8626550|8622688" MGI:2143163 RGD:1304980 602130 477107 objectId:2095 HGNC:6888 "ENST00000621469.5|NM_001243925.2" HGNC:6888 -HGNC:6889 MAPKAPK5 MAPK activated protein kinase 5 protein-coding gene gene with protein product Approved 12q24.12-q24.13 12q24.12-q24.13 "PRAK|MK5" mitogen-activated protein kinase-activated protein kinase 5 MAPK activated protein kinases 1156 1999-03-26 2019-04-12 2023-01-20 8550 ENSG00000089022 OTTHUMG00000169605 uc001tta.5 AF032437 NM_139078 "CCDS44976|CCDS44975" Q8IW41 9628874 MGI:1333110 RGD:1564113 606723 objectId:2096 HGNC:6889 "ENST00000550735.7|NM_003668.4" +HGNC:6889 MAPKAPK5 MAPK activated protein kinase 5 protein-coding gene gene with protein product Approved 12q24.12-q24.13 12q24.12-q24.13 "PRAK|MK5" mitogen-activated protein kinase-activated protein kinase 5 MAPK activated protein kinases 1156 1999-03-26 2019-04-12 2023-01-20 8550 ENSG00000089022 OTTHUMG00000169605 uc001tta.5 AF032437 NM_139078 "CCDS44975|CCDS44976" Q8IW41 9628874 MGI:1333110 RGD:1564113 606723 objectId:2096 HGNC:6889 "ENST00000550735.7|NM_003668.4" HGNC:24091 MAPKAPK5-AS1 MAPKAPK5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.12 12q24.12 "FLJ39616|MAAS|lncRNA-cCSC1" C12orf47 "chromosome 12 open reading frame 47|MAPKAPK5 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2006-01-23 2012-05-30 2012-08-15 2023-03-15 51275 ENSG00000234608 OTTHUMG00000141273 uc001tsy.3 NR_015404 Q8N8E1 "12477932|35264707|31680315" MAPKAPK5-AS1 HGNC:24091 HGNC:45246 MAPKAPK5P1 MAPKAPK5 pseudogene 1 pseudogene pseudogene Approved 10q25.1 10q25.1 mitogen-activated protein kinase-activated protein kinase 5 pseudogene 1 2013-03-11 2019-04-12 2019-04-12 100533849 ENSG00000224498 OTTHUMG00000019023 NG_028758 PGOHUM00000238913 HGNC:45246 -HGNC:29536 MAPKBP1 mitogen-activated protein kinase binding protein 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "KIAA0596|NPHP20" mitogen activated protein kinase binding protein 1 WD repeat domain containing 362 2005-07-21 2008-01-30 2023-01-20 23005 ENSG00000137802 OTTHUMG00000160227 uc001zoj.4 AB011168 NM_014994 "CCDS32201|CCDS45239|CCDS58359" O60336 "9628581|10471813" MGI:1347004 RGD:1307578 616786 HGNC:29536 "ENST00000457542.7|NM_014994.3" HGNC:29536 +HGNC:29536 MAPKBP1 mitogen-activated protein kinase binding protein 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "KIAA0596|NPHP20" mitogen activated protein kinase binding protein 1 WD repeat domain containing 362 2005-07-21 2008-01-30 2023-01-20 23005 ENSG00000137802 OTTHUMG00000160227 uc001zoj.4 AB011168 NM_014994 "CCDS58359|CCDS45239|CCDS32201" O60336 "9628581|10471813" MGI:1347004 RGD:1307578 616786 HGNC:29536 "ENST00000457542.7|NM_014994.3" HGNC:29536 HGNC:6890 MAPRE1 microtubule associated protein RP/EB family member 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 EB1 adenomatous polyposis coli-binding protein EB1 Microtubule associated protein RP/EB family 1826 1999-12-14 2015-11-16 2023-01-20 22919 ENSG00000101367 OTTHUMG00000032228 uc002wyh.3 U24166 NM_012325 CCDS13208 Q15691 "7606712|9724749|11470413" MGI:891995 RGD:621781 603108 HGNC:6890 "ENST00000375571.6|NM_012325.3" HGNC:29624 MAPRE1P1 MAPRE1 pseudogene 1 pseudogene pseudogene Approved 8q24.23 08q24.23 MAPRE1P MAPRE1 pseudogene 2009-06-17 2010-02-16 2010-02-16 2021-03-17 80327 ENSG00000253915 OTTHUMG00000164123 AF288786 NG_002682 11161807 PGOHUM00000303382 HGNC:29624 HGNC:37761 MAPRE1P2 MAPRE1 pseudogene 2 pseudogene pseudogene Approved 4p15.1 04p15.1 2010-02-16 2020-04-06 642305 ENSG00000250076 OTTHUMG00000160348 NG_028945 PGOHUM00000245494 HGNC:37761 HGNC:37762 MAPRE1P3 MAPRE1 pseudogene 3 pseudogene pseudogene Approved 2q24.3 02q24.3 2010-02-16 2014-11-19 100422229 ENSG00000233204 OTTHUMG00000153998 NG_031906 PGOHUM00000241008 HGNC:37762 -HGNC:6891 MAPRE2 microtubule associated protein RP/EB family member 2 protein-coding gene gene with protein product Approved 18q12.1-q12.2 18q12.1-q12.2 "RP1|EB1|EB2" APC-binding protein EB1 Microtubule associated protein RP/EB family 1826 1999-12-14 2015-11-16 2023-01-20 10982 ENSG00000166974 OTTHUMG00000132551 uc002kyg.5 X94232 NM_014268 "CCDS45850|CCDS11910|CCDS45851|CCDS58619" Q15555 "9233623|12475954" MGI:106271 RGD:1590736 605789 448342 HGNC:6891 "ENST00000300249.10|NM_014268.4" HGNC:6891 -HGNC:6892 MAPRE3 microtubule associated protein RP/EB family member 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "RP3|EB3" Microtubule associated protein RP/EB family 1826 1999-12-14 2015-11-16 2023-01-20 22924 ENSG00000084764 OTTHUMG00000097067 uc002rhw.4 Y11174 NM_012326 "CCDS1731|CCDS92722" Q9UPY8 9233623 MGI:2140967 RGD:1359297 605788 HGNC:6892 "ENST00000233121.7|NM_012326.4" +HGNC:6891 MAPRE2 microtubule associated protein RP/EB family member 2 protein-coding gene gene with protein product Approved 18q12.1-q12.2 18q12.1-q12.2 "RP1|EB1|EB2" APC-binding protein EB1 Microtubule associated protein RP/EB family 1826 1999-12-14 2015-11-16 2023-01-20 10982 ENSG00000166974 OTTHUMG00000132551 uc002kyg.5 X94232 NM_014268 "CCDS45851|CCDS11910|CCDS58619|CCDS45850" Q15555 "9233623|12475954" MGI:106271 RGD:1590736 605789 448342 HGNC:6891 "ENST00000300249.10|NM_014268.4" HGNC:6891 +HGNC:6892 MAPRE3 microtubule associated protein RP/EB family member 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "RP3|EB3" Microtubule associated protein RP/EB family 1826 1999-12-14 2015-11-16 2023-01-20 22924 ENSG00000084764 OTTHUMG00000097067 uc002rhw.4 Y11174 NM_012326 "CCDS92722|CCDS1731" Q9UPY8 9233623 MGI:2140967 RGD:1359297 605788 HGNC:6892 "ENST00000233121.7|NM_012326.4" HGNC:40362 MAPRE3-AS1 MAPRE3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 Antisense RNAs 1987 2019-08-16 2019-08-16 100129724 ENSG00000205500 OTTHUMG00000151998 NR_149018 HGNC:40362 -HGNC:6893 MAPT microtubule associated protein tau protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MTBT1|tau|PPND|FTDP-17|TAU|MSTD|MTBT2|FLJ31424|MGC138549|PPP1R103|tau-40|Tau-PHF6" "G protein beta1/gamma2 subunit-interacting factor 1|microtubule-associated protein tau, isoform 4|protein phosphatase 1, regulatory subunit 103|Tau-derived paired helical filament hexapeptide" "DDPAC|MAPTL" Protein phosphatase 1 regulatory subunits 694 2001-06-22 2015-11-16 2023-01-20 4137 ENSG00000186868 OTTHUMG00000168833 uc010dau.4 J03778 NM_016835 "CCDS45715|CCDS45716|CCDS56033|CCDS92346|CCDS92347|CCDS11499|CCDS11500|CCDS11501|CCDS92345|CCDS11502" P10636 "7936241|3131773" MGI:97180 RGD:69329 "Alzheimer Disease & Frontotemporal Dementia Mutation Database|http://www.molgen.ua.ac.be/FTDMutations/|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_660|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_660.xml" 157140 123144 ligandId:9275 HGNC:6893 "ENST00000262410.10|NM_001377265.1" HGNC:6893 +HGNC:6893 MAPT microtubule associated protein tau protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MTBT1|tau|PPND|FTDP-17|TAU|MSTD|MTBT2|FLJ31424|MGC138549|PPP1R103|tau-40|Tau-PHF6" "G protein beta1/gamma2 subunit-interacting factor 1|microtubule-associated protein tau, isoform 4|protein phosphatase 1, regulatory subunit 103|Tau-derived paired helical filament hexapeptide" "DDPAC|MAPTL" Protein phosphatase 1 regulatory subunits 694 2001-06-22 2015-11-16 2023-01-20 4137 ENSG00000186868 OTTHUMG00000168833 uc010dau.4 J03778 NM_016835 "CCDS92347|CCDS45715|CCDS11499|CCDS11502|CCDS92346|CCDS45716|CCDS56033|CCDS11501|CCDS92345|CCDS11500" P10636 "7936241|3131773" MGI:97180 RGD:69329 "Alzheimer Disease & Frontotemporal Dementia Mutation Database|http://www.molgen.ua.ac.be/FTDMutations/|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_660|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_660.xml" 157140 123144 ligandId:9275 HGNC:6893 "ENST00000262410.10|NM_001377265.1" HGNC:6893 HGNC:43738 MAPT-AS1 MAPT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 MAPT antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-17 2012-08-15 2016-10-03 100128977 ENSG00000264589 OTTHUMG00000178246 uc284ojc.1 NR_024559 27336847 MAPT-AS1 HGNC:43738 HGNC:43741 MAPT-IT1 MAPT intronic transcript 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 MAPT intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2012-02-20 2015-02-25 2015-02-25 100130148 ENSG00000279685 OTTHUMG00000177993 uc002ijw.5 NR_024560 MAPT-IT1 HGNC:43741 -HGNC:26077 MARCHF1 membrane associated ring-CH-type finger 1 protein-coding gene gene with protein product Approved 4q32.2-q32.3 04q32.2-q32.3 "FLJ20668|MARCH-I|RNF171" MARCH1 "membrane-associated ring finger (C3HC4) 1|membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2023-01-20 55016 ENSG00000145416 OTTHUMG00000161204 uc003iqs.3 AK000675 NM_017923 "CCDS93664|CCDS3806|CCDS54814" Q8TCQ1 14722266 MGI:1920175 RGD:1305148 613331 HGNC:26077 "ENST00000514618.6|NM_001394959.1" +HGNC:26077 MARCHF1 membrane associated ring-CH-type finger 1 protein-coding gene gene with protein product Approved 4q32.2-q32.3 04q32.2-q32.3 "FLJ20668|MARCH-I|RNF171" MARCH1 "membrane-associated ring finger (C3HC4) 1|membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2023-01-20 55016 ENSG00000145416 OTTHUMG00000161204 uc003iqs.3 AK000675 NM_017923 "CCDS54814|CCDS3806|CCDS93664" Q8TCQ1 14722266 MGI:1920175 RGD:1305148 613331 HGNC:26077 "ENST00000514618.6|NM_001394959.1" HGNC:28038 MARCHF2 membrane associated ring-CH-type finger 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HSPC240|MARCH-II|RNF172" MARCH2 "membrane-associated ring finger (C3HC4) 2|membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2023-01-20 51257 ENSG00000099785 OTTHUMG00000182282 uc002mjw.4 AF151074 NM_016496 "CCDS32894|CCDS12202" Q9P0N8 "11042152|14722266" MGI:1925915 RGD:1306395 613332 HGNC:28038 "ENST00000215555.7|NM_001005415.2" HGNC:28728 MARCHF3 membrane associated ring-CH-type finger 3 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "MGC48332|MARCH-III|RNF173" MARCH3 "membrane-associated ring finger (C3HC4) 3|membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2023-01-20 115123 ENSG00000173926 OTTHUMG00000128968 uc003kuf.4 AF055007 NM_178450 CCDS4141 Q86UD3 "14722266|8619474" MGI:2443667 RGD:1359308 613333 HGNC:28728 "ENST00000308660.6|NM_178450.5" HGNC:29269 MARCHF4 membrane associated ring-CH-type finger 4 protein-coding gene gene with protein product Approved 2q35 02q35 "KIAA1399|MARCH-IV|RNF174" MARCH4 "membrane-associated ring finger (C3HC4) 4|membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2023-01-20 57574 ENSG00000144583 OTTHUMG00000154824 uc002vgb.4 AB037820 NM_020814 CCDS33376 Q9P2E8 "10718198|14722266" MGI:2683550 RGD:1590797 608208 HGNC:29269 "ENST00000273067.5|NM_020814.3" HGNC:26025 MARCHF5 membrane associated ring-CH-type finger 5 protein-coding gene gene with protein product Approved 10q23.32-q23.33 10q23.32-q23.33 "FLJ20445|MARCH-V|MITOL" mitochondrial ubiquitin ligase "RNF153|MARCH5" "ring finger protein 153|membrane-associated ring finger (C3HC4) 5" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2004-05-27 2019-07-09 2015-11-26 2023-01-20 54708 ENSG00000198060 OTTHUMG00000018757 uc001khx.1 BC015480 NM_017824 CCDS7420 Q9NX47 14722266 MGI:1915207 RGD:1305617 610637 470632 HGNC:26025 "ENST00000358935.3|NM_017824.5" -HGNC:30550 MARCHF6 membrane associated ring-CH-type finger 6 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "TEB4|MARCH-VI|RNF176" MARCH6 "membrane-associated ring finger (C3HC4) 6|membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2023-01-20 10299 ENSG00000145495 OTTHUMG00000162027 uc003jet.3 AB011169 NM_005885 "CCDS34135|CCDS59487|CCDS59488" O60337 14722266 MGI:2442773 RGD:1565757 613297 HGNC:30550 "ENST00000274140.10|NM_005885.4" HGNC:30550 +HGNC:30550 MARCHF6 membrane associated ring-CH-type finger 6 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "TEB4|MARCH-VI|RNF176" MARCH6 "membrane-associated ring finger (C3HC4) 6|membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2023-01-20 10299 ENSG00000145495 OTTHUMG00000162027 uc003jet.3 AB011169 NM_005885 "CCDS59488|CCDS59487|CCDS34135" O60337 14722266 MGI:2442773 RGD:1565757 613297 HGNC:30550 "ENST00000274140.10|NM_005885.4" HGNC:30550 HGNC:56238 MARCHF6-DT MARCHF6 divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 "CTD-2256P15.2|PACMP" PAR-amplifying and CtIP-maintaining micropeptide Divergent transcripts 1990 2022-09-14 2022-09-14 101929977 ENSG00000259802 NR_183260 P0DW81 35219381 -HGNC:17393 MARCHF7 membrane associated ring-CH-type finger 7 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "MARCH-VII|RNF177" "AXOT|MARCH7" "axotrophin|membrane-associated ring finger (C3HC4) 7|membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2001-12-17 2019-07-09 2015-11-26 2023-01-20 64844 ENSG00000136536 OTTHUMG00000132029 uc002uax.5 AK022973 NM_022826 "CCDS63038|CCDS63039|CCDS2210" Q9H992 14722266 MGI:1931053 RGD:1308993 613334 HGNC:17393 "ENST00000409175.6|NM_001282805.2" -HGNC:23356 MARCHF8 membrane associated ring-CH-type finger 8 protein-coding gene gene with protein product Approved 10q11.21-q11.22 10q11.21-q11.22 "c-MIR|CMIR|MARCH-VIII|RNF178" "MIR|MARCH8" "c-mir, cellular modulator of immune recognition|membrane-associated ring finger (C3HC4) 8|membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2003-11-12 2019-07-09 2015-11-26 2023-01-20 220972 ENSG00000165406 OTTHUMG00000019345 uc001jck.3 AL833316 NM_145021 "CCDS60519|CCDS7213" Q5T0T0 "12582153|14722266" MGI:1919029 RGD:1309339 613335 HGNC:23356 "ENST00000453424.7|NM_001282866.2" +HGNC:17393 MARCHF7 membrane associated ring-CH-type finger 7 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "MARCH-VII|RNF177" "AXOT|MARCH7" "axotrophin|membrane-associated ring finger (C3HC4) 7|membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2001-12-17 2019-07-09 2015-11-26 2023-01-20 64844 ENSG00000136536 OTTHUMG00000132029 uc002uax.5 AK022973 NM_022826 "CCDS2210|CCDS63039|CCDS63038" Q9H992 14722266 MGI:1931053 RGD:1308993 613334 HGNC:17393 "ENST00000409175.6|NM_001282805.2" +HGNC:23356 MARCHF8 membrane associated ring-CH-type finger 8 protein-coding gene gene with protein product Approved 10q11.21-q11.22 10q11.21-q11.22 "c-MIR|CMIR|MARCH-VIII|RNF178" "MIR|MARCH8" "c-mir, cellular modulator of immune recognition|membrane-associated ring finger (C3HC4) 8|membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2003-11-12 2019-07-09 2015-11-26 2023-01-20 220972 ENSG00000165406 OTTHUMG00000019345 uc001jck.3 AL833316 NM_145021 "CCDS7213|CCDS60519" Q5T0T0 "12582153|14722266" MGI:1919029 RGD:1309339 613335 HGNC:23356 "ENST00000453424.7|NM_001282866.2" HGNC:25139 MARCHF9 membrane associated ring-CH-type finger 9 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "RNF179|FLJ36578" MARCH9 membrane-associated ring finger (C3HC4) 9 "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2023-01-20 92979 ENSG00000139266 OTTHUMG00000170456 uc001spx.3 BC009489 NM_138396 CCDS31847 Q86YJ5 14722266 MGI:2446144 RGD:1590688 613336 HGNC:25139 "ENST00000266643.6|NM_138396.6" -HGNC:26655 MARCHF10 membrane associated ring-CH-type finger 10 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "FLJ35757|MARCH-X" "RNF190|MARCH10" "ring finger protein 190|membrane-associated ring finger (C3HC4) 10|membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-08-19 2019-07-09 2015-11-26 2023-01-20 162333 ENSG00000173838 OTTHUMG00000179192 uc002jag.6 AK093076 NM_152598 "CCDS11635|CCDS74123|CCDS74122" Q8NA82 17604280 MGI:2443469 RGD:1311692 613337 HGNC:26655 "ENST00000311269.10|NM_152598.4" +HGNC:26655 MARCHF10 membrane associated ring-CH-type finger 10 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "FLJ35757|MARCH-X" "RNF190|MARCH10" "ring finger protein 190|membrane-associated ring finger (C3HC4) 10|membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-08-19 2019-07-09 2015-11-26 2023-01-20 162333 ENSG00000173838 OTTHUMG00000179192 uc002jag.6 AK093076 NM_152598 "CCDS74122|CCDS74123|CCDS11635" Q8NA82 17604280 MGI:2443469 RGD:1311692 613337 HGNC:26655 "ENST00000311269.10|NM_152598.4" HGNC:52815 MARCHF10-DT MARCHF10 divergent transcript non-coding RNA RNA, long non-coding Approved 17q23.2 17q23.2 MARCH10-DT MARCH10 divergent transcript Divergent transcripts 1990 2019-06-14 2019-07-09 2019-08-02 2019-08-14 101927877 ENSG00000265000 OTTHUMG00000179193 NR_135634 HGNC:52815 HGNC:33609 MARCHF11 membrane associated ring-CH-type finger 11 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "MARCH-XI|RNF226" MARCH11 membrane-associated ring finger (C3HC4) 11 "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2007-08-20 2019-07-09 2015-11-26 2023-01-20 441061 ENSG00000183654 OTTHUMG00000161789 uc003jfo.3 BC150513 NM_001102562 CCDS47192 A6NNE9 17604280 MGI:3608327 RGD:1559945 613338 HGNC:33609 "ENST00000332432.9|NM_001102562.3" HGNC:41287 MARCHF11-AS1 MARCHF11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 MARCH11-AS1 MARCH11 antisense RNA 1 Antisense RNAs 1987 2019-08-16 2019-09-19 2019-09-19 2019-09-19 107986407 ENSG00000250981 OTTHUMG00000161791 XR_001742612 HGNC:41287 @@ -18053,8 +18055,8 @@ HGNC:6760 MARCKSP1 myristoylated alanine rich protein kinase C substrate pseudog HGNC:6895 MARCO macrophage receptor with collagenous structure protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "SCARA2|SR-A6" scavenger receptor class A, member 2 "Scavenger receptors|Scavenger receptor cysteine rich domain containing" "1253|1404" 1998-11-26 2023-01-20 8685 ENSG00000019169 OTTHUMG00000131400 uc002tln.2 AF035819 NM_006770 CCDS2124 Q9UEW3 "9468508|7867067|10331948" MGI:1309998 RGD:1589662 604870 HGNC:6895 "ENST00000327097.5|NM_006770.4" HGNC:53644 MARCOL MARCO like protein-coding gene gene with protein product Approved 5q32 05q32 2017-08-10 2023-01-20 105378220 ENSG00000248109 OTTHUMG00000163424 NM_001363511 CCDS87333 A0A1B0GUY1 MGI:5611025 RGD:41001054 HGNC:53644 "ENST00000638089.2|NM_001363511.2" HGNC:29562 MARF1 meiosis regulator and mRNA stability factor 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "LKAP|PPP1R34|LMKB" "limkain b1|protein phosphatase 1, regulatory subunit 34|meiosis arrest female 1" KIAA0430 KIAA0430 "Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "694|1691" 2006-06-27 2017-03-17 2017-03-17 2023-03-15 9665 ENSG00000166783 OTTHUMG00000129884 uc002ddr.4 AB007890 NM_014647 "CCDS53990|CCDS10562|CCDS55991" Q9Y4F3 "9455477|10493829|15932519|22442484|23090997" MGI:2444505 RGD:619770 614593 HGNC:29562 "ENST00000396368.8|NM_014647.4" -HGNC:6896 MARK1 microtubule affinity regulating kinase 1 protein-coding gene gene with protein product Approved 1q41 01q41 "MARK|PAR-1C" MAP/microtubule affinity-regulating kinase 1 Microtubule affinity regulating kinases 2132 1997-10-27 2016-02-10 2023-01-20 4139 ENSG00000116141 OTTHUMG00000037351 uc001hmn.6 AF154845 NM_001286124 "CCDS31029|CCDS73033|CCDS73034|CCDS65789" Q9P0L2 9108484 MGI:2664902 RGD:619882 606511 objectId:2097 HGNC:6896 "ENST00000366917.6|NM_018650.5" -HGNC:3332 MARK2 microtubule affinity regulating kinase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "PAR-1|Par1b|PAR-1B" "ELKL motif kinase 1|serine/threonine kinase|protein-serine/threonine kinase|Ser/Thr protein kinase PAR-1B" EMK1 "ELKL motif kinase|MAP/microtubule affinity-regulating kinase 2" Microtubule affinity regulating kinases 2132 1994-12-08 2002-08-01 2016-02-10 2023-01-20 2011 ENSG00000072518 OTTHUMG00000160504 uc058crx.1 BC008771 NM_017490 "CCDS53650|CCDS53649|CCDS53651|CCDS8051|CCDS41665" Q7KZI7 "9730619|10516437" MGI:99638 RGD:708483 600526 objectId:2098 HGNC:3332 "ENST00000402010.8|NM_001039469.3" +HGNC:6896 MARK1 microtubule affinity regulating kinase 1 protein-coding gene gene with protein product Approved 1q41 01q41 "MARK|PAR-1C" MAP/microtubule affinity-regulating kinase 1 Microtubule affinity regulating kinases 2132 1997-10-27 2016-02-10 2023-01-20 4139 ENSG00000116141 OTTHUMG00000037351 uc001hmn.6 AF154845 NM_001286124 "CCDS31029|CCDS73034|CCDS73033|CCDS65789" Q9P0L2 9108484 MGI:2664902 RGD:619882 606511 objectId:2097 HGNC:6896 "ENST00000366917.6|NM_018650.5" +HGNC:3332 MARK2 microtubule affinity regulating kinase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "PAR-1|Par1b|PAR-1B" "ELKL motif kinase 1|serine/threonine kinase|protein-serine/threonine kinase|Ser/Thr protein kinase PAR-1B" EMK1 "ELKL motif kinase|MAP/microtubule affinity-regulating kinase 2" Microtubule affinity regulating kinases 2132 1994-12-08 2002-08-01 2016-02-10 2023-01-20 2011 ENSG00000072518 OTTHUMG00000160504 uc058crx.1 BC008771 NM_017490 "CCDS53649|CCDS53651|CCDS41665|CCDS53650|CCDS8051" Q7KZI7 "9730619|10516437" MGI:99638 RGD:708483 600526 objectId:2098 HGNC:3332 "ENST00000402010.8|NM_001039469.3" HGNC:39792 MARK2P1 MARK2 pseudogene 1 pseudogene pseudogene Approved 3p25.3 03p25.3 "MAP/microtubule affinity-regulating kinase 2 pseudogene 1|microtubule affinity regulating kinase 2 pseudogene 1" 2011-03-29 2022-10-19 2022-10-19 100421501 NG_025672 PGOHUM00000237930 HGNC:39792 HGNC:39793 MARK2P2 MARK2 pseudogene 2 pseudogene pseudogene Approved 3p25.3 03p25.3 "MAP/microtubule affinity-regulating kinase 2 pseudogene 2|microtubule affinity regulating kinase 2 pseudogene 2" 2011-03-29 2022-10-19 2022-10-19 100421502 NG_025674 PGOHUM00000237933 HGNC:39793 HGNC:39794 MARK2P3 MARK2 pseudogene 3 pseudogene pseudogene Approved 3q21.3 03q21.3 "MAP/microtubule affinity-regulating kinase 2 pseudogene 3|microtubule affinity regulating kinase 2 pseudogene 3" 2011-03-29 2022-10-19 2022-10-28 100421507 ENSG00000270492 NG_025740 PGOHUM00000238178 HGNC:39794 @@ -18075,7 +18077,7 @@ HGNC:50318 MARK2P17 MARK2 pseudogene 17 pseudogene pseudogene Approved 3q21.3 03 HGNC:56405 MARK2P18 MARK2 pseudogene 18 pseudogene pseudogene Approved 6p25.3 06p25.3 2022-10-19 2022-10-19 100421511 ENSG00000219712 NG_025779 PGOHUM00000301230 HGNC:56521 MARK2P19 MARK2 pseudogene 19 pseudogene pseudogene Approved 3q21.3 03q21.3 2022-10-28 2022-10-28 100421508 ENSG00000270773 NG_025741 PGOHUM00000299584 HGNC:44494 MARK2P20 MARK2 pseudogene 20 pseudogene pseudogene Approved 3p25.2 03p25.2 2022-11-10 2022-11-10 100533755 NG_028738 PGOHUM00000237937 -HGNC:6897 MARK3 microtubule affinity regulating kinase 3 protein-coding gene gene with protein product Approved 14q32.32-q32.33 14q32.32-q32.33 "CTAK1|KP78|PAR-1A" MAP/microtubule affinity-regulating kinase 3 Microtubule affinity regulating kinases 2132 1997-10-27 2016-02-10 2023-01-20 4140 ENSG00000075413 OTTHUMG00000171789 uc001ymw.5 M80359 NM_001128918 "CCDS91940|CCDS45165|CCDS91938|CCDS45167|CCDS55947|CCDS41993|CCDS45166" P27448 9533022 MGI:1341865 RGD:619883 602678 objectId:2099 HGNC:6897 "ENST00000429436.7|NM_001128918.3" HGNC:6897 +HGNC:6897 MARK3 microtubule affinity regulating kinase 3 protein-coding gene gene with protein product Approved 14q32.32-q32.33 14q32.32-q32.33 "CTAK1|KP78|PAR-1A" MAP/microtubule affinity-regulating kinase 3 Microtubule affinity regulating kinases 2132 1997-10-27 2016-02-10 2023-01-20 4140 ENSG00000075413 OTTHUMG00000171789 uc001ymw.5 M80359 NM_001128918 "CCDS55947|CCDS91940|CCDS41993|CCDS45165|CCDS91938|CCDS45166|CCDS45167" P27448 9533022 MGI:1341865 RGD:619883 602678 objectId:2099 HGNC:6897 "ENST00000429436.7|NM_001128918.3" HGNC:6897 HGNC:50312 MARK3P1 microtubule affinity regulating kinase 3 pseudogene 1 pseudogene pseudogene Approved 12q13.11 12q13.11 MAP/microtubule affinity-regulating kinase 3 pseudogene 1 2014-04-07 2016-02-10 2017-03-22 100421550 ENSG00000271642 OTTHUMG00000184790 NG_024005 PGOHUM00000291320 HGNC:50312 HGNC:50313 MARK3P2 microtubule affinity regulating kinase 3 pseudogene 2 pseudogene pseudogene Approved 3p25.2 03p25.2 MAP/microtubule affinity-regulating kinase 3 pseudogene 2 2014-04-07 2016-02-10 2016-02-10 100421503 NG_025676 PGOHUM00000261899 HGNC:50313 HGNC:50314 MARK3P3 microtubule affinity regulating kinase 3 pseudogene 3 pseudogene pseudogene Approved 3q21.3 03q21.3 MAP/microtubule affinity-regulating kinase 3 pseudogene 3 2014-04-07 2016-02-10 2016-02-10 100533754 ENSG00000243022 OTTHUMG00000159810 NG_028736 PGOHUM00000237761 HGNC:50314 @@ -18083,44 +18085,44 @@ HGNC:13538 MARK4 microtubule affinity regulating kinase 4 protein-coding gene ge HGNC:6898 MARS1 methionyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "MetRS|SPG70|CMT2U" methionine tRNA ligase 1, cytoplasmic MARS methionyl-tRNA synthetase "Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes" "131|1691" 2001-06-22 2019-07-15 2019-07-15 2023-01-20 4141 ENSG00000166986 OTTHUMG00000169996 uc001sog.4 X94754 NM_004990 CCDS8942 P56192 "10448063|24482476" MGI:1345633 RGD:1305321 156560 376898 6.1.1.10 HGNC:6898 "ENST00000262027.10|NM_004990.4" HGNC:6898 HGNC:25133 MARS2 methionyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "mtMetRS|SPAX3" methionine tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 2004-12-02 2007-02-26 2023-01-20 92935 ENSG00000247626 OTTHUMG00000154487 uc002uuq.4 BC009115 NM_138395 CCDS33358 Q96GW9 15274629 MGI:2444136 RGD:1311527 609728 317667 6.1.1.10 HGNC:25133 "ENST00000282276.8|NM_138395.4" HGNC:25133 HGNC:28674 MARVELD1 MARVEL domain containing 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "MGC4415|GB14|FLJ23440|FLJ22343|bA548K23.8" occludin MRVLDC1 MARVEL (membrane-associating) domain containing 1 MARVEL domain containing 1626 2004-03-05 2004-07-12 2004-07-12 2023-03-15 83742 ENSG00000155254 OTTHUMG00000018865 uc001koj.5 BC004995 NM_031484 Q9BSK0 "19364627|21347699" MGI:2147570 RGD:1309811 616970 HGNC:28674 "ENST00000285605.8|NM_031484.4" -HGNC:26401 MARVELD2 MARVEL domain containing 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "FLJ30532|TRIC" tricellulin "MRVLDC2|DFNB49" "MARVEL (membrane-associating) domain containing 2|deafness, autosomal recessive 49" MARVEL domain containing 1626 2004-03-15 2004-07-14 2004-07-12 2023-01-20 153562 ENSG00000152939 OTTHUMG00000162512 uc003jwq.4 AK055094 NM_144724 "CCDS58956|CCDS34175" Q8N4S9 17186462 MGI:2446166 RGD:1306909 LRG_1380|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1380.xml 610572 160288 HGNC:26401 "ENST00000325631.10|NM_001038603.3" HGNC:26401 -HGNC:30525 MARVELD3 MARVEL domain containing 3 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 MRVLDC3 MARVEL (membrane-associating) domain containing 3 MARVEL domain containing 1626 2004-03-15 2004-07-14 2004-07-12 2023-01-20 91862 ENSG00000140832 OTTHUMG00000137591 uc002fat.5 BC013376 NM_052858 "CCDS32478|CCDS59270|CCDS10904" Q96A59 20028514 MGI:1920858 RGD:1562056 614094 HGNC:30525 "ENST00000268485.8|NM_052858.6" +HGNC:26401 MARVELD2 MARVEL domain containing 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "FLJ30532|TRIC" tricellulin "MRVLDC2|DFNB49" "MARVEL (membrane-associating) domain containing 2|deafness, autosomal recessive 49" MARVEL domain containing 1626 2004-03-15 2004-07-14 2004-07-12 2023-01-20 153562 ENSG00000152939 OTTHUMG00000162512 uc003jwq.4 AK055094 NM_144724 "CCDS34175|CCDS58956" Q8N4S9 17186462 MGI:2446166 RGD:1306909 LRG_1380|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1380.xml 610572 160288 HGNC:26401 "ENST00000325631.10|NM_001038603.3" HGNC:26401 +HGNC:30525 MARVELD3 MARVEL domain containing 3 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 MRVLDC3 MARVEL (membrane-associating) domain containing 3 MARVEL domain containing 1626 2004-03-15 2004-07-14 2004-07-12 2023-01-20 91862 ENSG00000140832 OTTHUMG00000137591 uc002fat.5 BC013376 NM_052858 "CCDS59270|CCDS32478|CCDS10904" Q96A59 20028514 MGI:1920858 RGD:1562056 614094 HGNC:30525 "ENST00000268485.8|NM_052858.6" HGNC:6899 MAS1 MAS1 proto-oncogene, G protein-coupled receptor protein-coding gene gene with protein product Approved 6q25.3 06q25.3 MAS1 oncogene G protein-coupled receptors, Class A orphans 262 1988-07-04 2014-06-26 2023-01-20 4142 ENSG00000130368 OTTHUMG00000015944 uc003qsz.4 M13150 NM_002377 CCDS5272 P04201 MGI:96918 RGD:3049 165180 objectId:150 HGNC:6899 "ENST00000674077.2|NM_002377.4" HGNC:13961 MAS1L MAS1 proto-oncogene like, G protein-coupled receptor protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "MAS-L|MRG|dJ994E9.2" MAS1 oncogene-like G protein-coupled receptors, Class A orphans 262 2002-11-18 2014-06-26 2023-01-20 116511 ENSG00000204687 OTTHUMG00000031089 uc011dlq.3 S78653 NM_052967 CCDS4661 P35410 RGD:738049 607235 objectId:151 HGNC:13961 "ENST00000377127.4|NM_052967.2" HGNC:33448 MAS1LP1 MAS1L pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 OTTHUMG00000086553 MAS1LP "MAS1 oncogene-like pseudogene|MAS1 oncogene-like pseudogene 1" 2007-05-01 2010-02-25 2014-06-26 2014-11-19 646366 ENSG00000230164 OTTHUMG00000086553 NG_009738 PGOHUM00000243120 HGNC:33448 -HGNC:6901 MASP1 MBL associated serine protease 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "MASP|Map44|MASP-3|MAP-1" "C4/C2 activating component of Ra-reactive factor|mannose-binding lectin-associated serine protease 1" "CRARF|PRSS5" "mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)|mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)|mannan binding lectin serine peptidase 1" "Serine proteases|Sushi domain containing|Complement system activation components" "738|1179|1638" 1995-07-06 2021-02-11 2023-01-20 5648 ENSG00000127241 OTTHUMG00000156461 uc003frh.3 D28593 NM_001879 "CCDS33907|CCDS33908|CCDS33909" P48740 "8018603|8240317" MGI:88492 RGD:620213 LRG_349|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_349.xml 600521 252117 HGNC:6901 "ENST00000296280.11|NM_139125.4" HGNC:6901 -HGNC:6902 MASP2 MBL associated serine protease 2 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "Map19|sMAP|MAP-2" "mannose-binding lectin-associated serine protease 2|mannose-binding lectin associated protein 19" MASP1P1 "mannan-binding lectin serine protease 2|mannan-binding lectin serine peptidase 1 pseudogene 1|mannan-binding lectin serine protease 1 pseudogene 1" "Sushi domain containing|Complement system activation components" "1179|1638" 1998-12-17 2021-02-11 2023-01-20 10747 ENSG00000009724 OTTHUMG00000002121 uc001aru.4 X98400 NM_006610 "CCDS124|CCDS123" O00187 "9087411|9777418" MGI:1330832 RGD:620214 "MASP2base: Mutation registry for MASP-2 deficiency|http://structure.bmc.lu.se/idbase/MASP2base/|LRG_82|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_82.xml" 605102 332185 S01.229 HGNC:6902 "ENST00000400897.8|NM_006610.4" HGNC:6902 +HGNC:6901 MASP1 MBL associated serine protease 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "MASP|Map44|MASP-3|MAP-1" "C4/C2 activating component of Ra-reactive factor|mannose-binding lectin-associated serine protease 1" "CRARF|PRSS5" "mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)|mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)|mannan binding lectin serine peptidase 1" "Serine proteases|Sushi domain containing|Complement system activation components" "738|1179|1638" 1995-07-06 2021-02-11 2023-01-20 5648 ENSG00000127241 OTTHUMG00000156461 uc003frh.3 D28593 NM_001879 "CCDS33908|CCDS33909|CCDS33907" P48740 "8018603|8240317" MGI:88492 RGD:620213 LRG_349|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_349.xml 600521 252117 HGNC:6901 "ENST00000296280.11|NM_139125.4" HGNC:6901 +HGNC:6902 MASP2 MBL associated serine protease 2 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "Map19|sMAP|MAP-2" "mannose-binding lectin-associated serine protease 2|mannose-binding lectin associated protein 19" MASP1P1 "mannan-binding lectin serine protease 2|mannan-binding lectin serine peptidase 1 pseudogene 1|mannan-binding lectin serine protease 1 pseudogene 1" "Sushi domain containing|Complement system activation components" "1179|1638" 1998-12-17 2021-02-11 2023-01-20 10747 ENSG00000009724 OTTHUMG00000002121 uc001aru.4 X98400 NM_006610 "CCDS123|CCDS124" O00187 "9087411|9777418" MGI:1330832 RGD:620214 "MASP2base: Mutation registry for MASP-2 deficiency|http://structure.bmc.lu.se/idbase/MASP2base/|LRG_82|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_82.xml" 605102 332185 S01.229 HGNC:6902 "ENST00000400897.8|NM_006610.4" HGNC:6902 HGNC:19034 MAST1 microtubule associated serine/threonine kinase 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "SAST|KIAA0973" "PDZ domain containing|AGC family kinases|MicroRNA protein coding host genes" "1220|1625|1691" 2004-06-25 2023-01-20 22983 ENSG00000105613 OTTHUMG00000180514 uc002mvm.4 AB023190 NM_014975 CCDS32921 Q9Y2H9 MGI:1861901 RGD:631372 612256 470634 objectId:1510 HGNC:19034 "ENST00000251472.9|NM_014975.3" HGNC:19034 HGNC:19035 MAST2 microtubule associated serine/threonine kinase 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "MAST205|KIAA0807" "PDZ domain containing|AGC family kinases" "1220|1625" 2004-02-10 2023-01-20 23139 ENSG00000086015 OTTHUMG00000008007 uc001cov.3 AB047005 NM_015112 CCDS41326 Q6P0Q8 MGI:894676 RGD:1304573 612257 objectId:1511 HGNC:19035 "ENST00000361297.7|NM_015112.3" -HGNC:19036 MAST3 microtubule associated serine/threonine kinase 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA0561 "PDZ domain containing|AGC family kinases" "1220|1625" 2004-02-10 2023-01-20 23031 ENSG00000099308 OTTHUMG00000183418 uc002nhz.5 AB011133 NM_015016 "CCDS92565|CCDS92564|CCDS46014|CCDS92566" O60307 MGI:2683541 RGD:1587639 612258 objectId:1512 HGNC:19036 "ENST00000687212.1|NM_001393504.1" +HGNC:19036 MAST3 microtubule associated serine/threonine kinase 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA0561 "PDZ domain containing|AGC family kinases" "1220|1625" 2004-02-10 2023-01-20 23031 ENSG00000099308 OTTHUMG00000183418 uc002nhz.5 AB011133 NM_015016 "CCDS46014|CCDS92564|CCDS92565|CCDS92566" O60307 MGI:2683541 RGD:1587639 612258 objectId:1512 HGNC:19036 "ENST00000687212.1|NM_001393504.1" HGNC:55276 MAST3-AS1 MAST3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 Antisense RNAs 1987 2020-10-06 2020-10-06 2020-10-06 118827815 ENSG00000269145 -HGNC:19037 MAST4 microtubule associated serine/threonine kinase family member 4 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 KIAA0303 "PDZ domain containing|AGC family kinases" "1220|1625" 2004-12-06 2023-01-20 375449 ENSG00000069020 OTTHUMG00000152471 uc003jut.3 AY830839 NM_001164664 "CCDS47224|CCDS78015|CCDS54861|CCDS75254|CCDS47225" O15021 9205841 MGI:1918885 RGD:1310139 618002 objectId:1513 HGNC:19037 "ENST00000403625.7|NM_001164664.2" +HGNC:19037 MAST4 microtubule associated serine/threonine kinase family member 4 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 KIAA0303 "PDZ domain containing|AGC family kinases" "1220|1625" 2004-12-06 2023-01-20 375449 ENSG00000069020 OTTHUMG00000152471 uc003jut.3 AY830839 NM_001164664 "CCDS54861|CCDS47224|CCDS78015|CCDS47225|CCDS75254" O15021 9205841 MGI:1918885 RGD:1310139 618002 objectId:1513 HGNC:19037 "ENST00000403625.7|NM_001164664.2" HGNC:40865 MAST4-AS1 MAST4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 MAST4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2020-04-20 101928794 ENSG00000229666 OTTHUMG00000152480 uc063ecw.1 NR_111908 MAST4-AS1 HGNC:40865 HGNC:41448 MAST4-IT1 MAST4 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 MAST4 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 100874310 ENSG00000249057 OTTHUMG00000162486 uc063ecl.1 MAST4-IT1 -HGNC:19042 MASTL microtubule associated serine/threonine kinase like protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "FLJ14813|THC2|Gwl" greatwall kinase homolog microtubule associated serine/threonine kinase-like AGC family kinases 1625 2004-02-10 2015-11-27 2023-01-20 84930 ENSG00000120539 OTTHUMG00000017855 uc001itl.3 BC009107 NM_032844 "CCDS53502|CCDS53503|CCDS7153" Q96GX5 MGI:1914371 RGD:1309186 608221 123154 objectId:1514 HGNC:19042 "ENST00000375940.9|NM_001172303.3" HGNC:19042 +HGNC:19042 MASTL microtubule associated serine/threonine kinase like protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "FLJ14813|THC2|Gwl" greatwall kinase homolog microtubule associated serine/threonine kinase-like AGC family kinases 1625 2004-02-10 2015-11-27 2023-01-20 84930 ENSG00000120539 OTTHUMG00000017855 uc001itl.3 BC009107 NM_032844 "CCDS7153|CCDS53503|CCDS53502" Q96GX5 MGI:1914371 RGD:1309186 608221 123154 objectId:1514 HGNC:19042 "ENST00000375940.9|NM_001172303.3" HGNC:19042 HGNC:6903 MAT1A methionine adenosyltransferase 1A protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "MAT|SAMS|MATA1|SAMS1|MAT-I/III" "S-adenosylmethionine synthetase|S-adenosylmethionine synthase isoform type-1|methionine adenosyltransferase I/III" methionine adenosyltransferase I, alpha Methionine adenosyltransferase family 2234 1997-07-01 2016-01-27 2023-03-09 4143 ENSG00000151224 OTTHUMG00000018613 uc001kbw.4 NM_000429 CCDS7365 Q00266 "8393662|26289392" MGI:88017 RGD:3050 610550 173216 2.5.1.6 HGNC:6903 "ENST00000372213.8|NM_000429.3" HGNC:6903 HGNC:6904 MAT2A methionine adenosyltransferase 2A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "SAMS2|MATA2|MATII|MAT-II" S-adenosylmethionine synthase isoform type-2 methionine adenosyltransferase II, alpha Methionine adenosyltransferase family 2234 1997-07-01 2016-01-27 2023-03-09 4144 ENSG00000168906 OTTHUMG00000130174 uc002spr.4 NM_005911 CCDS1977 P31153 "1426236|9703951" MGI:2443731 RGD:619985 601468 2.5.1.6 HGNC:6904 "ENST00000306434.8|NM_005911.6" HGNC:6904 HGNC:56476 MAT2AP1 MAT2A pseudogene 1 pseudogene pseudogene Approved 3q13.2 03q13.2 MAT2A pseudogene 2022-10-20 2023-04-17 2023-04-17 100653395 ENSG00000242308 NG_029634 PGOHUM00000299133 HGNC:6905 MAT2B methionine adenosyltransferase 2 non-catalytic beta subunit protein-coding gene gene with protein product Approved 5q34 05q34 "MATIIbeta|SDR23E1" short chain dehydrogenase/reductase family 23E, member 1 "methionine adenosyltransferase II, beta|methionine adenosyltransferase 2B" Short chain dehydrogenase/reductase superfamily 743 2000-02-01 2023-03-09 2023-03-09 27430 ENSG00000038274 OTTHUMG00000130379 uc003lzk.5 AF182814 NM_013283 "CCDS4365|CCDS4364" Q9NZL9 "9055605|10644686|19027726" MGI:1913667 RGD:1593534 605527 HGNC:6905 "ENST00000321757.11|NM_013283.5" HGNC:34408 MATCAP1 microtubule associated tyrosine carboxypeptidase 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 LOC653319 KIAA0895L KIAA0895 like 2008-11-27 2022-06-16 2022-06-16 2023-01-20 653319 ENSG00000196123 OTTHUMG00000172891 uc059vqc.1 AK092303 NM_001040715 "CCDS42177|CCDS92174" Q68EN5 35482892 MGI:1921606 RGD:1585272 619978 HGNC:34408 "ENST00000563902.2|NM_001040715.2" -HGNC:22206 MATCAP2 microtubule associated tyrosine carboxypeptidase 2 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 KIAA0895 KIAA0895 2008-11-27 2022-06-16 2022-06-16 2023-01-20 23366 ENSG00000164542 OTTHUMG00000154939 uc011kax.2 BC028678 NM_015314 "CCDS56482|CCDS43570|CCDS75583|CCDS47573|CCDS56484|CCDS56483" Q8NCT3 MGI:1915533 RGD:1561444 619896 HGNC:22206 "ENST00000440378.6|NM_001199706.2" -HGNC:6906 MATK megakaryocyte-associated tyrosine kinase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HYLTK|CTK|HYL|Lsk|CHK|HHYLTK|DKFZp434N1212|MGC1708|MGC2101" "Csk-homologous kinase|tyrosine-protein kinase CTK|protein kinase HYL|hematopoietic consensus tyrosine-lacking kinase|tyrosylprotein kinase|hydroxyaryl-protein kinase|Csk-type protein tyrosine kinase|HYL tyrosine kinase|tyrosine kinase MATK|leukocyte carboxyl-terminal src kinase related" "SH2 domain containing|Csk family tyrosine kinases" "741|1460" 1994-07-22 2023-01-20 4145 ENSG00000007264 OTTHUMG00000180916 uc002lyv.4 L18974 NM_139355 "CCDS12114|CCDS42468|CCDS12113" P42679 "8288563|7530249" MGI:99259 RGD:69058 600038 objectId:2101 HGNC:6906 "ENST00000310132.11|NM_139355.3" +HGNC:22206 MATCAP2 microtubule associated tyrosine carboxypeptidase 2 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 KIAA0895 KIAA0895 2008-11-27 2022-06-16 2022-06-16 2023-01-20 23366 ENSG00000164542 OTTHUMG00000154939 uc011kax.2 BC028678 NM_015314 "CCDS47573|CCDS75583|CCDS56484|CCDS43570|CCDS56483|CCDS56482" Q8NCT3 MGI:1915533 RGD:1561444 619896 HGNC:22206 "ENST00000440378.6|NM_001199706.2" +HGNC:6906 MATK megakaryocyte-associated tyrosine kinase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HYLTK|CTK|HYL|Lsk|CHK|HHYLTK|DKFZp434N1212|MGC1708|MGC2101" "Csk-homologous kinase|tyrosine-protein kinase CTK|protein kinase HYL|hematopoietic consensus tyrosine-lacking kinase|tyrosylprotein kinase|hydroxyaryl-protein kinase|Csk-type protein tyrosine kinase|HYL tyrosine kinase|tyrosine kinase MATK|leukocyte carboxyl-terminal src kinase related" "SH2 domain containing|Csk family tyrosine kinases" "741|1460" 1994-07-22 2023-01-20 4145 ENSG00000007264 OTTHUMG00000180916 uc002lyv.4 L18974 NM_139355 "CCDS42468|CCDS12114|CCDS12113" P42679 "8288563|7530249" MGI:99259 RGD:69058 600038 objectId:2101 HGNC:6906 "ENST00000310132.11|NM_139355.3" HGNC:6907 MATN1 matrilin 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "CRTM|CMP" matrilin 1, cartilage matrix protein Matrilins 1602 1991-05-09 2018-02-12 2023-01-20 4146 ENSG00000162510 OTTHUMG00000003705 uc001brz.4 M55675 NM_002379 CCDS336 P21941 "2246248|9083061" MGI:106591 RGD:1359410 115437 HGNC:6907 "ENST00000373765.5|NM_002379.3" HGNC:40364 MATN1-AS1 MATN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p35.2 01p35.2 MATN1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2020-02-13 100129196 ENSG00000186056 OTTHUMG00000003706 uc057ecc.1 AK057725 NR_034182 32042800 MATN1-AS1 HGNC:40364 -HGNC:6908 MATN2 matrilin 2 protein-coding gene gene with protein product Approved 8q22.1-q22.2 08q22.1-q22.2 Matrilins 1602 1998-04-29 2023-01-20 4147 ENSG00000132561 OTTHUMG00000164795 uc003yic.4 U69263 NM_001317748 "CCDS55265|CCDS55264|CCDS83309" O00339 "9083061|11852232" MGI:109613 RGD:1305353 602108 HGNC:6908 "ENST00000254898.7|NM_002380.5" +HGNC:6908 MATN2 matrilin 2 protein-coding gene gene with protein product Approved 8q22.1-q22.2 08q22.1-q22.2 Matrilins 1602 1998-04-29 2023-01-20 4147 ENSG00000132561 OTTHUMG00000164795 uc003yic.4 U69263 NM_001317748 "CCDS55264|CCDS83309|CCDS55265" O00339 "9083061|11852232" MGI:109613 RGD:1305353 602108 HGNC:6908 "ENST00000254898.7|NM_002380.5" HGNC:6909 MATN3 matrilin 3 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "EDM5|HOA" Matrilins 1602 1998-04-29 2023-01-20 4148 ENSG00000132031 OTTHUMG00000151788 uc002rdl.4 AJ001047 NM_002381 CCDS46226 O15232 "9287130|9350998" MGI:1328350 RGD:1305085 602109 123158 HGNC:6909 "ENST00000407540.8|NM_002381.5" HGNC:6909 HGNC:6910 MATN4 matrilin 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 Matrilins 1602 1998-12-15 2023-03-15 8785 ENSG00000124159 OTTHUMG00000033043 uc061xhd.1 AJ007581 NM_001393530 "CCDS13348|CCDS46607" O95460 "9827539|9027493" MGI:1328314 RGD:1309732 603897 HGNC:6910 "ENST00000372756.6|NM_001393530.1" -HGNC:6912 MATR3 matrin 3 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "KIAA0723|MGC9105|VCPDM" MPD2 myopathy, distal 2 "Zinc fingers matrin-type|Small nucleolar RNA protein coding host genes" "84|1835" 1999-07-21 2023-03-15 9782 ENSG00000015479 OTTHUMG00000129229 uc003ldx.4 M63483 NM_018834 "CCDS93789|CCDS54908" P43243 "2033075|19344878" MGI:1298379 RGD:3052 164015 189131 HGNC:6912 "ENST00000394805.8|NM_018834.6" HGNC:6912 +HGNC:6912 MATR3 matrin 3 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "KIAA0723|MGC9105|VCPDM" MPD2 myopathy, distal 2 "Zinc fingers matrin-type|Small nucleolar RNA protein coding host genes" "84|1835" 1999-07-21 2023-03-15 9782 ENSG00000015479 OTTHUMG00000129229 uc003ldx.4 M63483 NM_018834 "CCDS54908|CCDS93789" P43243 "2033075|19344878" MGI:1298379 RGD:3052 164015 189131 HGNC:6912 "ENST00000394805.8|NM_018834.6" HGNC:6912 HGNC:54991 MATR3P1 MATR3 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-15 2020-05-15 100499496 ENSG00000225858 NG_027489 HGNC:56591 MATR3P2 MATR3 pseudogene 2 pseudogene pseudogene Approved 3q26.33 03q26.33 2022-11-03 2022-11-03 127482542 ENSG00000242140 PGOHUM00000299678 HGNC:56592 MATR3P3 MATR3 pseudogene 3 pseudogene pseudogene Approved 1p21.1 01p21.1 2022-11-03 2022-11-03 100499497 ENSG00000237897 NG_027490 HGNC:29140 MAU2 MAU2 sister chromatid cohesion factor protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MGC75361|mau-2|MAU2L|SCC4" sister chromatid cohesion 4 KIAA0892 "KIAA0892|MAU2 chromatid cohesion factor homolog (C. elegans)" 2004-02-09 2013-08-28 2016-01-11 2023-01-20 23383 ENSG00000129933 OTTHUMG00000150188 uc002nmk.5 AB020699 NM_015329 CCDS32969 Q9Y6X3 10048485 MGI:1921799 RGD:1308759 614560 470638 HGNC:29140 "ENST00000262815.13|NM_015329.4" HGNC:29233 MAVS mitochondrial antiviral signaling protein protein-coding gene gene with protein product Approved 20p13 20p13 "VISA|KIAA1271|IPS-1|Cardif" "virus-induced signaling adaptor|IFN-B promoter stimulator 1|CARD adaptor inducing IFN-beta" Caspase recruitment domain containing 959 2009-04-01 2023-01-20 57506 ENSG00000088888 OTTHUMG00000031765 uc002wjw.5 DQ174270 NM_020746 "CCDS56176|CCDS33437" Q7Z434 "16125763|16153868" MGI:2444773 RGD:1359371 609676 HGNC:29233 "ENST00000428216.4|NM_020746.5" -HGNC:6913 MAX MYC associated factor X protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "bHLHd4|bHLHd5|bHLHd6|bHLHd7|bHLHd8" MAX protein Basic helix-loop-helix proteins 420 1992-10-27 2005-02-08 2023-03-15 4149 ENSG00000125952 OTTHUMG00000142809 uc001xif.3 NM_197957 "CCDS9770|CCDS9774|CCDS81813|CCDS9772|CCDS9771|CCDS41965" P61244 1557420 MGI:96921 RGD:621101 LRG_530|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_530.xml MAX 154950 290420 HGNC:6913 "ENST00000358664.9|NM_002382.5" HGNC:6913 -HGNC:6914 MAZ MYC associated zinc finger protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "ZF87|Pur-1|Zif87|ZNF801" purine-binding transcription factor MYC-associated zinc finger protein (purine-binding transcription factor) Zinc fingers C2H2-type 28 1998-05-20 2016-02-12 2023-01-20 4150 ENSG00000103495 OTTHUMG00000190393 uc002dtx.5 M93339 NM_002383 "CCDS42143|CCDS61903|CCDS61902|CCDS42144" P56270 "1567856|1502157" MGI:1338823 RGD:1594632 600999 HGNC:6914 "ENST00000322945.11|NM_002383.4" +HGNC:6913 MAX MYC associated factor X protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "bHLHd4|bHLHd5|bHLHd6|bHLHd7|bHLHd8" MAX protein Basic helix-loop-helix proteins 420 1992-10-27 2005-02-08 2023-03-15 4149 ENSG00000125952 OTTHUMG00000142809 uc001xif.3 NM_197957 "CCDS9770|CCDS81813|CCDS41965|CCDS9774|CCDS9772|CCDS9771" P61244 1557420 MGI:96921 RGD:621101 LRG_530|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_530.xml MAX 154950 290420 HGNC:6913 "ENST00000358664.9|NM_002382.5" HGNC:6913 +HGNC:6914 MAZ MYC associated zinc finger protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "ZF87|Pur-1|Zif87|ZNF801" purine-binding transcription factor MYC-associated zinc finger protein (purine-binding transcription factor) Zinc fingers C2H2-type 28 1998-05-20 2016-02-12 2023-01-20 4150 ENSG00000103495 OTTHUMG00000190393 uc002dtx.5 M93339 NM_002383 "CCDS42144|CCDS61902|CCDS42143|CCDS61903" P56270 "1567856|1502157" MGI:1338823 RGD:1594632 600999 HGNC:6914 "ENST00000322945.11|NM_002383.4" HGNC:6915 MB myoglobin protein-coding gene gene with protein product Approved 22q12.3 22q12.3 PVALB 2001-06-22 2023-01-20 4151 ENSG00000198125 OTTHUMG00000150606 uc003aob.3 NM_203377 "CCDS13917|CCDS93156" P02144 "10591208|2989088" MGI:96922 RGD:620411 160000 HGNC:6915 "ENST00000397326.7|NM_005368.3" HGNC:30438 MB21D2 Mab-21 domain containing 2 protein-coding gene gene with protein product Approved 3q29 03q29 C3orf59 chromosome 3 open reading frame 59 2006-02-07 2011-02-23 2011-02-23 2023-01-20 151963 ENSG00000180611 OTTHUMG00000155768 uc011bsp.3 AK056276 NM_178496 CCDS3302 Q8IYB1 12477932 MGI:1917028 RGD:1559643 HGNC:30438 "ENST00000392452.3|NM_178496.4" -HGNC:6916 MBD1 methyl-CpG binding domain protein 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "PCM1|CXXC3" "Zinc fingers CXXC-type|Methyl-CpG binding domain containing" "136|1025" 1997-10-29 2023-01-20 4152 ENSG00000141644 OTTHUMG00000132669 uc010dow.3 Y10746 NM_015846 "CCDS11942|CCDS11944|CCDS11943|CCDS32832|CCDS56071|CCDS59318|CCDS56073|CCDS11941|CCDS59320|CCDS92462|CCDS59319|CCDS56072" Q9UIS9 "9207790|10441743" MGI:1333811 RGD:1305980 156535 HGNC:6916 "ENST00000269468.10|NM_015846.4" +HGNC:6916 MBD1 methyl-CpG binding domain protein 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "PCM1|CXXC3" "Zinc fingers CXXC-type|Methyl-CpG binding domain containing" "136|1025" 1997-10-29 2023-01-20 4152 ENSG00000141644 OTTHUMG00000132669 uc010dow.3 Y10746 NM_015846 "CCDS11943|CCDS32832|CCDS56071|CCDS59320|CCDS59319|CCDS56073|CCDS59318|CCDS92462|CCDS11941|CCDS11944|CCDS56072|CCDS11942" Q9UIS9 "9207790|10441743" MGI:1333811 RGD:1305980 156535 HGNC:6916 "ENST00000269468.10|NM_015846.4" HGNC:6917 MBD2 methyl-CpG binding domain protein 2 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "Methyl-CpG binding domain containing|NuRD complex subunits|Small nucleolar RNA protein coding host genes" "1025|1305|1835" 1999-01-11 2023-01-20 8932 ENSG00000134046 OTTHUMG00000132705 uc002lfg.2 AF072242 NM_003927 "CCDS45871|CCDS11953" Q9UBB5 "9774669|10441743" MGI:1333813 RGD:1595452 603547 HGNC:6917 "ENST00000256429.8|NM_003927.5" HGNC:6918 MBD3 methyl-CpG binding domain protein 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Methyl-CpG binding domain containing|NuRD complex subunits" "1025|1305" 1999-01-11 2023-01-20 53615 ENSG00000071655 OTTHUMG00000180081 uc002ltj.5 AF072247 NM_003926 "CCDS12072|CCDS62481" O95983 "9774669|10441743" MGI:1333812 RGD:1307389 603573 HGNC:6918 "ENST00000434436.8|NM_001281453.2" HGNC:15774 MBD3L1 methyl-CpG binding domain protein 3 like 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MBD3L methyl-CpG binding domain protein 3-like 2001-06-21 2003-03-21 2016-03-15 2023-01-20 85509 ENSG00000170948 OTTHUMG00000182198 uc060sxz.1 AY038022 NM_145208 CCDS12209 Q8WWY6 12504854 MGI:1920753 RGD:1308259 607963 HGNC:15774 "ENST00000595891.2|NM_001393532.1" @@ -18129,24 +18131,24 @@ HGNC:53435 MBD3L2B methyl-CpG binding domain protein 3 like 2B protein-coding ge HGNC:37205 MBD3L3 methyl-CpG binding domain protein 3 like 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2011-08-04 2016-03-15 2023-01-20 653657 ENSG00000182315 OTTHUMG00000181976 uc021uns.2 NM_001164425 CCDS45944 A6NE82 MGI:2158460 HGNC:37205 "ENST00000333843.9|NM_001164425.4" HGNC:37206 MBD3L4 methyl-CpG binding domain protein 3 like 4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2011-08-04 2016-03-15 2023-01-20 653656 ENSG00000205718 OTTHUMG00000181974 uc021unr.2 NM_001164419 CCDS54205 A6NDZ8 MGI:2158460 HGNC:37206 "ENST00000381394.9|NM_001164419.3" HGNC:37204 MBD3L5 methyl-CpG binding domain protein 3 like 5 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 methyl-CpG binding domain protein 3-like 5 2011-08-04 2016-03-15 2023-01-20 284428 ENSG00000237247 OTTHUMG00000181973 uc010xjl.3 NM_001136507 CCDS45942 A6NJ08 MGI:2158460 HGNC:37204 "ENST00000329753.5|NM_001136507.2" -HGNC:6919 MBD4 methyl-CpG binding domain 4, DNA glycosylase protein-coding gene gene with protein product Approved 3q21.3 03q21.3 MED1 methyl-CpG binding domain protein 4 "DNA glycosylases|Methyl-CpG binding domain containing" "1024|1025" 1999-01-11 2016-03-15 2023-01-20 8930 ENSG00000129071 OTTHUMG00000159463 uc003emh.3 AF072250 NM_003925 "CCDS63769|CCDS63768|CCDS3058|CCDS63767|CCDS63766" O95243 "9774669|10097147" MGI:1333850 RGD:1585874 603574 HGNC:6919 "ENST00000429544.7|NM_001276270.2" +HGNC:6919 MBD4 methyl-CpG binding domain 4, DNA glycosylase protein-coding gene gene with protein product Approved 3q21.3 03q21.3 MED1 methyl-CpG binding domain protein 4 "DNA glycosylases|Methyl-CpG binding domain containing" "1024|1025" 1999-01-11 2016-03-15 2023-01-20 8930 ENSG00000129071 OTTHUMG00000159463 uc003emh.3 AF072250 NM_003925 "CCDS63767|CCDS3058|CCDS63768|CCDS63769|CCDS63766" O95243 "9774669|10097147" MGI:1333850 RGD:1585874 603574 HGNC:6919 "ENST00000429544.7|NM_001276270.2" HGNC:20444 MBD5 methyl-CpG binding domain protein 5 protein-coding gene gene with protein product Approved 2q23.2 02q23.2 "FLJ11113|KIAA1461" "Methyl-CpG binding domain containing|PWWP domain containing" "1025|1147" 2003-03-03 2023-01-20 55777 ENSG00000204406 OTTHUMG00000150440 uc002twm.5 AB040894 NM_001378120 Q9P267 12529184 MGI:2138934 RGD:1562961 611472 244206 HGNC:20444 "ENST00000642680.2|NM_001378120.1" HGNC:20444 HGNC:20445 MBD6 methyl-CpG binding domain protein 6 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 KIAA1887 Methyl-CpG binding domain containing 1025 2003-03-03 2023-01-20 114785 ENSG00000166987 OTTHUMG00000170099 uc001soj.2 AB067474 NM_052897 CCDS8944 Q96DN6 12529184 MGI:106378 RGD:1311050 619458 HGNC:20445 "ENST00000355673.8|NM_052897.4" -HGNC:20427 MBIP MAP3K12 binding inhibitory protein 1 protein-coding gene gene with protein product Approved 14q13.3 14q13.3 ATAC complex 1058 2003-10-03 2023-01-20 51562 ENSG00000151332 OTTHUMG00000140222 uc001wtm.2 BC016821 NM_016586 "CCDS45096|CCDS76672|CCDS9658" Q9NS73 10801814 MGI:1918320 RGD:1306310 609431 HGNC:20427 "ENST00000416007.9|NM_016586.3" +HGNC:20427 MBIP MAP3K12 binding inhibitory protein 1 protein-coding gene gene with protein product Approved 14q13.3 14q13.3 ATAC complex 1058 2003-10-03 2023-01-20 51562 ENSG00000151332 OTTHUMG00000140222 uc001wtm.2 BC016821 NM_016586 "CCDS45096|CCDS9658|CCDS76672" Q9NS73 10801814 MGI:1918320 RGD:1306310 609431 HGNC:20427 "ENST00000416007.9|NM_016586.3" HGNC:6921 MBL1P mannose binding lectin 1, pseudogene pseudogene pseudogene Approved 10q22.3 10q22.3 COLEC3P MBL1P1 "mannose-binding lectin (protein A) 1, pseudogene 1|mannose-binding lectin (protein A) 1, pseudogene" "Collectins|C-type lectin domain containing" "491|1298" 1998-10-12 2009-12-02 2016-06-27 2020-08-14 8512 ENSG00000242600 OTTHUMG00000018595 AF019382 NR_002724 9501312 MGI:96923 RGD:3055 PGOHUM00000258533 HGNC:6921 HGNC:6922 MBL2 mannose binding lectin 2 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "COLEC1|MBP-C|MBP1|MBP" "collectin 1|mannose-binding protein" MBL "mannose-binding lectin (protein C) 2, soluble (opsonic defect)|mannose-binding lectin (protein C) 2, soluble" "Collectins|Complement system activation components" "491|1638" 1990-05-25 2016-02-01 2023-01-20 4153 ENSG00000165471 OTTHUMG00000150270 uc001jjt.3 AF360991 NM_000242 CCDS7247 P11226 "1675710|1672848|19501910" MGI:96924 RGD:67380 LRG_154|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_154.xml 154545 457472 HGNC:6922 "ENST00000674931.1|NM_001378373.1" HGNC:2221 MBL3P mannose-binding lectin family member 3, pseudogene pseudogene pseudogene Approved 10q22.3 10q22.3 COLEC2 collectin sub-family member 2 Collectins 491 2000-04-11 2009-12-02 2011-08-09 2021-02-11 50639 ENSG00000219430 OTTHUMG00000018569 NG_029674 HGNC:2221 HGNC:22180 MBLAC1 metallo-beta-lactamase domain containing 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MGC49416 MBL domain containing glyoxalase 2 subfamily 1614 2009-04-08 2009-04-08 2023-01-20 255374 ENSG00000214309 OTTHUMG00000154846 uc003utp.4 BC031288 NM_203397 CCDS43620 A4D2B0 MGI:2679717 RGD:1306932 HGNC:22180 "ENST00000398075.4|NM_203397.3" HGNC:33711 MBLAC2 metallo-beta-lactamase domain containing 2 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "DKFZp686P15118|MGC46734" MBL domain containing glyoxalase 2 subfamily 1614 2009-04-08 2009-04-08 2023-01-20 153364 ENSG00000176055 OTTHUMG00000131327 uc003kjp.3 BC038230 NM_203406 CCDS4067 Q68D91 MGI:1920102 RGD:1306703 HGNC:33711 "ENST00000316610.7|NM_203406.2" -HGNC:6923 MBNL1 muscleblind like splicing regulator 1 protein-coding gene gene with protein product Approved 3q25.1-q25.2 03q25.1-q25.2 "KIAA0428|EXP42|EXP40|EXP35|EXP" MBNL "muscleblind (Drosophila)-like|muscleblind-like (Drosophila)|muscleblind-like splicing regulator 1" Zinc fingers CCCH-type 73 1998-02-26 2003-03-14 2015-11-13 2023-01-20 4154 ENSG00000152601 OTTHUMG00000159163 uc062pck.1 Y13829 NM_021038 "CCDS3163|CCDS3164|CCDS3165|CCDS3166|CCDS82864|CCDS3168|CCDS54656|CCDS3167|CCDS93409|CCDS87156" Q9NR56 MGI:1928482 RGD:628668 606516 HGNC:6923 "ENST00000324210.10|NM_021038.5" +HGNC:6923 MBNL1 muscleblind like splicing regulator 1 protein-coding gene gene with protein product Approved 3q25.1-q25.2 03q25.1-q25.2 "KIAA0428|EXP42|EXP40|EXP35|EXP" MBNL "muscleblind (Drosophila)-like|muscleblind-like (Drosophila)|muscleblind-like splicing regulator 1" Zinc fingers CCCH-type 73 1998-02-26 2003-03-14 2015-11-13 2023-01-20 4154 ENSG00000152601 OTTHUMG00000159163 uc062pck.1 Y13829 NM_021038 "CCDS82864|CCDS93409|CCDS87156|CCDS54656|CCDS3163|CCDS3165|CCDS3166|CCDS3167|CCDS3168|CCDS3164" Q9NR56 MGI:1928482 RGD:628668 606516 HGNC:6923 "ENST00000324210.10|NM_021038.5" HGNC:44584 MBNL1-AS1 MBNL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 LOC401093 Antisense RNAs 1987 2012-11-19 2019-07-12 401093 ENSG00000229619 OTTHUMG00000186506 uc011boe.3 "AK304857|BM790896" NR_027037 31255531 MBNL1-AS1 HGNC:44584 -HGNC:16746 MBNL2 muscleblind like splicing regulator 2 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "MBLL|MBLL39" "muscleblind-like 2 (Drosophila)|muscleblind-like splicing regulator 2" Zinc fingers CCCH-type 73 2003-03-05 2016-02-01 2023-01-20 10150 ENSG00000139793 OTTHUMG00000017239 uc001vmz.5 AF061261 NM_144778 "CCDS91824|CCDS76644|CCDS91823|CCDS91825|CCDS9484|CCDS9483" Q5VZF2 11929853 MGI:2145597 RGD:1591755 607327 HGNC:16746 "ENST00000679496.1|NM_001382683.1" -HGNC:20564 MBNL3 muscleblind like splicing regulator 3 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "CHCR|FLJ11316|MBLX39|MBXL" "muscleblind-like 3 (Drosophila)|muscleblind-like splicing regulator 3" Zinc fingers CCCH-type 73 2003-03-05 2016-02-01 2023-01-20 55796 ENSG00000076770 OTTHUMG00000022426 uc004ewv.5 AF491305 NM_018388 "CCDS14634|CCDS14633|CCDS55492" Q9NUK0 "12297108|10970838" MGI:2444912 RGD:1565834 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MBNL3 300413 HGNC:20564 "ENST00000370853.8|NM_001386889.1" +HGNC:16746 MBNL2 muscleblind like splicing regulator 2 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "MBLL|MBLL39" "muscleblind-like 2 (Drosophila)|muscleblind-like splicing regulator 2" Zinc fingers CCCH-type 73 2003-03-05 2016-02-01 2023-01-20 10150 ENSG00000139793 OTTHUMG00000017239 uc001vmz.5 AF061261 NM_144778 "CCDS9484|CCDS91825|CCDS76644|CCDS91824|CCDS91823|CCDS9483" Q5VZF2 11929853 MGI:2145597 RGD:1591755 607327 HGNC:16746 "ENST00000679496.1|NM_001382683.1" +HGNC:20564 MBNL3 muscleblind like splicing regulator 3 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "CHCR|FLJ11316|MBLX39|MBXL" "muscleblind-like 3 (Drosophila)|muscleblind-like splicing regulator 3" Zinc fingers CCCH-type 73 2003-03-05 2016-02-01 2023-01-20 55796 ENSG00000076770 OTTHUMG00000022426 uc004ewv.5 AF491305 NM_018388 "CCDS14633|CCDS55492|CCDS14634" Q9NUK0 "12297108|10970838" MGI:2444912 RGD:1565834 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MBNL3 300413 HGNC:20564 "ENST00000370853.8|NM_001386889.1" HGNC:21579 MBOAT1 membrane bound O-acyltransferase domain containing 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "MGC44669|dJ434O11.1|LPEAT1|LPLAT14" "lysophosphatidylethanolamine acyltransferase 1|lysophospholipid acyltransferase 14|lysophospholipid acyltransferase 1" OACT1 O-acyltransferase (membrane bound) domain containing 1 Membrane bound O-acyltransferase family 1036 2003-06-26 2006-06-29 2006-06-29 2023-01-20 154141 ENSG00000172197 OTTHUMG00000014334 uc003ncx.4 AK093994 NM_001080480 CCDS34346 Q6ZNC8 18287005 MGI:2387184 RGD:1565561 611732 HGNC:21579 "ENST00000324607.8|NM_001080480.3" HGNC:25193 MBOAT2 membrane bound O-acyltransferase domain containing 2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "FLJ14415|FLJ90298|LPLAT13" "lysophospholipid acyltransferase 13|Lysophospholipid acyltransferase 2" OACT2 O-acyltransferase (membrane bound) domain containing 2 Membrane bound O-acyltransferase family 1036 2004-07-06 2006-06-29 2006-06-29 2023-01-20 129642 ENSG00000143797 OTTHUMG00000090363 uc002qzg.2 BC016005 NM_138799 CCDS1660 Q6ZWT7 MGI:1914466 RGD:1305798 611949 HGNC:25193 "ENST00000305997.8|NM_138799.4" HGNC:32311 MBOAT4 membrane bound O-acyltransferase domain containing 4 protein-coding gene gene with protein product Approved 8p12 08p12 "FKSG89|GOAT" ghrelin O-acyltransferase OACT4 O-acyltransferase (membrane bound) domain containing 4 Membrane bound O-acyltransferase family 1036 2005-09-27 2006-06-29 2006-06-29 2023-01-20 619373 ENSG00000177669 OTTHUMG00000163824 uc010lvg.4 AF359269 NM_001100916 CCDS47835 Q96T53 18443287 MGI:2685017 RGD:1566335 611940 HGNC:32311 "ENST00000320542.4|NM_001100916.2" -HGNC:15505 MBOAT7 membrane bound O-acyltransferase domain containing 7 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "BB1|hMBOA-7|LPLAT|LPIAT1|LPLAT11" "lysophosphatidylinositol acyltransferase|lysophospholipid acyltransferase 7|lysophosphatidylinositol acyltransferase 1|lysophospholipid acyltransferase 11" LENG4 leukocyte receptor cluster (LRC) member 4 Membrane bound O-acyltransferase family 1036 2004-01-28 2008-01-17 2008-01-17 2023-01-20 79143 ENSG00000125505 OTTHUMG00000066516 uc032icm.2 AF211969 NM_024298 "CCDS54316|CCDS12883|CCDS54315" Q96N66 "10941842|8702217|18094042" MGI:1924832 RGD:1306945 606048 476167 2.3.1.n4 HGNC:15505 "ENST00000245615.6|NM_024298.5" HGNC:15505 -HGNC:6925 MBP myelin basic protein protein-coding gene gene with protein product Approved 18q23 18q23 1986-01-01 2023-03-15 4155 ENSG00000197971 OTTHUMG00000132874 uc002lmn.4 NM_001025081 "CCDS42449|CCDS42448|CCDS12011|CCDS42450|CCDS32847" P02686 2425357 MGI:96925 RGD:3054 159430 470640 HGNC:6925 "ENST00000355994.7|NM_001025101.2" +HGNC:15505 MBOAT7 membrane bound O-acyltransferase domain containing 7 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "BB1|hMBOA-7|LPLAT|LPIAT1|LPLAT11" "lysophosphatidylinositol acyltransferase|lysophospholipid acyltransferase 7|lysophosphatidylinositol acyltransferase 1|lysophospholipid acyltransferase 11" LENG4 leukocyte receptor cluster (LRC) member 4 Membrane bound O-acyltransferase family 1036 2004-01-28 2008-01-17 2008-01-17 2023-01-20 79143 ENSG00000125505 OTTHUMG00000066516 uc032icm.2 AF211969 NM_024298 "CCDS54315|CCDS12883|CCDS54316" Q96N66 "10941842|8702217|18094042" MGI:1924832 RGD:1306945 606048 476167 2.3.1.n4 HGNC:15505 "ENST00000245615.6|NM_024298.5" HGNC:15505 +HGNC:6925 MBP myelin basic protein protein-coding gene gene with protein product Approved 18q23 18q23 1986-01-01 2023-03-15 4155 ENSG00000197971 OTTHUMG00000132874 uc002lmn.4 NM_001025081 "CCDS32847|CCDS42448|CCDS42449|CCDS12011|CCDS42450" P02686 2425357 MGI:96925 RGD:3054 159430 470640 HGNC:6925 "ENST00000355994.7|NM_001025101.2" HGNC:19866 MBTD1 mbt domain containing 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "SA49P01|FLJ20055" "MBT domain containing|Tip60/Nua4 histone acetyltransferase complex subunits" "1263|1634" 2003-01-15 2023-01-20 54799 ENSG00000011258 OTTHUMG00000150442 uc002itr.4 AK000062 NM_017643 CCDS11581 Q05BQ5 MGI:2143977 RGD:1592427 618705 HGNC:19866 "ENST00000586178.6|NM_017643.3" HGNC:15456 MBTPS1 membrane bound transcription factor peptidase, site 1 protein-coding gene gene with protein product Approved 16q23.3-q24.1 16q23.3-q24.1 "S1P|KIAA0091|SKI-1|PCSK8" "subtilisin kexin isozyme 1|site-1 protease" membrane-bound transcription factor protease, site 1 Proprotein convertase subtilisin/kexin family 973 2001-03-30 2015-11-11 2023-01-20 8720 ENSG00000140943 OTTHUMG00000137639 uc002fhi.5 D42053 NM_003791 CCDS10941 Q14703 "9809072|10944850" MGI:1927235 RGD:70935 603355 objectId:2381 HGNC:15456 "ENST00000343411.8|NM_003791.4" HGNC:15456 HGNC:55401 MBTPS1-DT MBTPS1 divergent transcript non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 Divergent transcripts 1990 2020-12-21 2020-12-21 119863866 ENSG00000260018 @@ -18159,7 +18161,7 @@ HGNC:6933 MC5R melanocortin 5 receptor protein-coding gene gene with protein pro HGNC:6934 MCAM melanoma cell adhesion molecule protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "MUC18|CD146|MelCAM|METCAM|HEMCAM" Gicerin "CD molecules|V-set domain containing|C2-set domain containing|Ig-like cell adhesion molecule family|MicroRNA protein coding host genes" "471|590|592|1410|1691" 1995-12-18 2023-01-20 4162 ENSG00000076706 OTTHUMG00000166197 uc001pwf.4 X68264 NM_006500 CCDS31690 P43121 "2602381|10702685|19229070" MGI:1933966 RGD:620463 155735 objectId:2988 CD146 HGNC:6934 "ENST00000264036.6|NM_006500.3" HGNC:29622 MCAT malonyl-CoA-acyl carrier protein transacylase protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "MT|MCT|fabD|FASN2C|NET62|MCT1" [acyl-carrier-protein] S-malonyltransferase malonyl CoA:ACP acyltransferase (mitochondrial) 2006-08-24 2015-11-11 2023-01-20 27349 ENSG00000100294 OTTHUMG00000150704 uc003bdl.2 AL359401 NM_173467 "CCDS33660|CCDS14045" Q8IVS2 12882974 MGI:2388651 RGD:1306698 614479 2.3.1.39 HGNC:29622 "ENST00000290429.11|NM_173467.5" HGNC:29622 HGNC:6935 MCC MCC regulator of WNT signaling pathway protein-coding gene gene with protein product Approved 5q22.2 05q22.2 "mutated in colorectal cancers|MCC, WNT signaling pathway regulator" EF-hand domain containing 863 1991-08-19 2019-01-25 2023-01-20 4163 ENSG00000171444 OTTHUMG00000128804 uc003kql.5 NM_001085377 "CCDS43351|CCDS4111" P23508 "1848370|25200342|25183869" MGI:96930 RGD:1561988 159350 HGNC:6935 "ENST00000408903.7|NM_001085377.2" -HGNC:6936 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "MCCA|MCCCα" "methylcrotonoyl-CoA carboxylase alpha|3-methylcrotonyl-CoA carboxylase biotin containing subunit" "methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)|methylcrotonoyl-CoA carboxylase 1" Methylcrotonyl-CoA carboxylase subunits 2047 1992-12-07 2021-03-18 2023-01-20 56922 ENSG00000078070 OTTHUMG00000158355 uc003fle.4 AF310972 NM_020166 "CCDS3241|CCDS87170" Q96RQ3 11170888 MGI:1919289 RGD:1310615 609010 123164 6.4.1.4 HGNC:6936 "ENST00000265594.9|NM_020166.5" HGNC:6936 +HGNC:6936 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "MCCA|MCCCα" "methylcrotonoyl-CoA carboxylase alpha|3-methylcrotonyl-CoA carboxylase biotin containing subunit" "methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)|methylcrotonoyl-CoA carboxylase 1" Methylcrotonyl-CoA carboxylase subunits 2047 1992-12-07 2021-03-18 2023-01-20 56922 ENSG00000078070 OTTHUMG00000158355 uc003fle.4 AF310972 NM_020166 "CCDS87170|CCDS3241" Q96RQ3 11170888 MGI:1919289 RGD:1310615 609010 123164 6.4.1.4 HGNC:6936 "ENST00000265594.9|NM_020166.5" HGNC:6936 HGNC:40366 MCCC1-AS1 MCCC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 MCCC1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 106480736 ENSG00000243368 OTTHUMG00000158356 uc062qni.1 MCCC1-AS1 HGNC:6937 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "MCCB|MCCCβ" "methylcrotonoyl-CoA carboxylase beta|3-methylcrotonyl-CoA carboxylase non-biotin containing subunit" "methylcrotonoyl-Coenzyme A carboxylase 2 (beta)|methylcrotonoyl-CoA carboxylase 2" Methylcrotonyl-CoA carboxylase subunits 2047 1992-12-07 2021-03-18 2023-01-20 64087 ENSG00000131844 OTTHUMG00000162505 uc003kbs.5 AF310971 NM_001363147 "CCDS93731|CCDS34184" Q9HCC0 MGI:1925288 RGD:1310279 609014 123167 6.4.1.4 HGNC:6937 "ENST00000340941.11|NM_022132.5" HGNC:6937 HGNC:20668 MCCD1 mitochondrial coiled-coil domain 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 2003-10-17 2023-01-20 401250 ENSG00000204511 OTTHUMG00000134292 uc003ntp.2 NM_001011700 CCDS34396 P59942 14527716 609624 HGNC:20668 "ENST00000376191.3|NM_001011700.3" @@ -18167,49 +18169,49 @@ HGNC:33449 MCCD1P1 mitochondrial coiled-coil domain 1 pseudogene 1 pseudogene ps HGNC:33462 MCCD1P2 mitochondrial coiled-coil domain 1 pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 BPG309N1.16 2007-05-02 2016-10-05 100048924 ENSG00000224312 OTTHUMG00000130500 NG_032719 PGOHUM00000243133 HGNC:33462 HGNC:16732 MCEE methylmalonyl-CoA epimerase protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "GLOD2|MCE|MMCE" "glyoxalase domain containing 2|methylmalonyl CoA isomerase" Glyoxalase domain containing family 2111 2001-10-03 2015-11-11 2023-01-20 84693 ENSG00000124370 OTTHUMG00000129709 uc002shs.3 AF364547 NM_032601 CCDS1915 Q96PE7 "16697227|16752391|16843692|21820381" MGI:1920974 RGD:1309966 MCEE database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MCEE 608419 181982 5.1.99.1 HGNC:16732 "ENST00000244217.6|NM_032601.4" HGNC:16732 HGNC:27291 MCEMP1 mast cell expressed membrane protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC132456 C19orf59 chromosome 19 open reading frame 59 2006-08-30 2014-04-16 2016-06-22 2023-01-20 199675 ENSG00000183019 OTTHUMG00000182440 AF461155 NM_174918 CCDS12183 Q8IX19 15953541 MGI:1916439 RGD:1565374 609565 HGNC:27291 "ENST00000333598.8|NM_174918.3" -HGNC:6940 MCF2 MCF.2 cell line derived transforming sequence protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 "DBL|ARHGEF21" Oncogene MCF2 (oncogene DBL) Dbl family Rho GEFs 722 1989-06-06 2023-01-20 4168 ENSG00000101977 OTTHUMG00000022537 uc004faw.3 NM_005369 "CCDS55514|CCDS14667|CCDS55515|CCDS55516|CCDS55517|CCDS48175" P10911 "2577874|1611909" MGI:96932 RGD:1566098 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MCF2 311030 HGNC:6940 "ENST00000519895.6|NM_001171876.2" -HGNC:14576 MCF2L MCF.2 cell line derived transforming sequence like protein-coding gene gene with protein product Approved 13q34 13q34 "KIAA0362|DBS|OST|ARHGEF14" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-02-08 2015-11-10 2023-01-20 23263 ENSG00000126217 OTTHUMG00000017377 uc010tjs.3 AB002360 NM_001112732 "CCDS81782|CCDS45070|CCDS9527" O15068 9205841 MGI:103263 RGD:619782 609499 HGNC:14576 "ENST00000535094.7|NM_001112732.3" +HGNC:6940 MCF2 MCF.2 cell line derived transforming sequence protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 "DBL|ARHGEF21" Oncogene MCF2 (oncogene DBL) Dbl family Rho GEFs 722 1989-06-06 2023-01-20 4168 ENSG00000101977 OTTHUMG00000022537 uc004faw.3 NM_005369 "CCDS14667|CCDS55516|CCDS48175|CCDS55514|CCDS55517|CCDS55515" P10911 "2577874|1611909" MGI:96932 RGD:1566098 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MCF2 311030 HGNC:6940 "ENST00000519895.6|NM_001171876.2" +HGNC:14576 MCF2L MCF.2 cell line derived transforming sequence like protein-coding gene gene with protein product Approved 13q34 13q34 "KIAA0362|DBS|OST|ARHGEF14" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-02-08 2015-11-10 2023-01-20 23263 ENSG00000126217 OTTHUMG00000017377 uc010tjs.3 AB002360 NM_001112732 "CCDS45070|CCDS81782|CCDS9527" O15068 9205841 MGI:103263 RGD:619782 609499 HGNC:14576 "ENST00000535094.7|NM_001112732.3" HGNC:39825 MCF2L-AS1 MCF2L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 MCF2L antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-30 2012-08-15 2014-11-18 100289410 ENSG00000235280 OTTHUMG00000057130 uc058ykf.1 NR_034002 MCF2L-AS1 HGNC:39825 HGNC:30319 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "KIAA0861|ARHGEF22" Dbl family Rho GEFs 722 2004-09-06 2023-01-20 23101 ENSG00000053524 OTTHUMG00000158388 uc003fli.3 AB020668 NM_015078 CCDS3243 Q86YR7 619946 HGNC:30319 "ENST00000328913.8|NM_015078.4" HGNC:56615 MCF2L2P1 MCF2L2 pseudogene 1 pseudogene pseudogene Approved 3q27.3 03q27.3 2022-11-04 2022-11-04 127525790 ENSG00000231982 NG_148559 PGOHUM00000299692 -HGNC:18451 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit protein-coding gene gene with protein product Approved 2p21 02p21 "F5F8D|LMAN1IP|SDNSF" EF-hand domain containing 863 2003-06-24 2019-10-24 2023-01-20 90411 ENSG00000180398 OTTHUMG00000153100 uc010fba.4 AF475284 NM_139279 "CCDS54355|CCDS33192|CCDS54354" Q8NI22 "12717434|2463956" MGI:2183439 RGD:628690 LRG_566|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_566.xml 607788 123170 HGNC:18451 "ENST00000319466.9|NM_139279.6" HGNC:18451 +HGNC:18451 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit protein-coding gene gene with protein product Approved 2p21 02p21 "F5F8D|LMAN1IP|SDNSF" EF-hand domain containing 863 2003-06-24 2019-10-24 2023-01-20 90411 ENSG00000180398 OTTHUMG00000153100 uc010fba.4 AF475284 NM_139279 "CCDS54354|CCDS54355|CCDS33192" Q8NI22 "12717434|2463956" MGI:2183439 RGD:628690 LRG_566|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_566.xml 607788 123170 HGNC:18451 "ENST00000319466.9|NM_139279.6" HGNC:18451 HGNC:21582 MCFD2P1 multiple coagulation factor deficiency 2 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "dJ153G14.2|NUCB2-L" "C6orf44|MCFD2L" "chromosome 6 open reading frame 44|multiple coagulation factor deficiency 2-like" 2003-11-26 2010-10-20 2010-10-20 2016-10-05 645927 ENSG00000237154 OTTHUMG00000014476 NG_009330 PGOHUM00000243529 HGNC:21582 HGNC:4479 MCHR1 melanin concentrating hormone receptor 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "SLC1|MCH1R" GPR24 "G protein-coupled receptor 24|melanin-concentrating hormone receptor 1" Melanin concentrating hormone receptors 235 1996-11-15 2006-02-15 2015-11-23 2023-01-20 2847 ENSG00000128285 OTTHUMG00000150256 uc003ayz.4 NM_005297 CCDS14004 Q99705 MGI:2180756 RGD:619841 601751 objectId:280 HGNC:4479 "ENST00000249016.5|NM_005297.4" HGNC:20867 MCHR2 melanin concentrating hormone receptor 2 protein-coding gene gene with protein product Approved 6q16.2 06q16.2 "SLT|MCH2|MCH2R" GPR145 "G protein-coupled receptor 145|melanin-concentrating hormone receptor 2" Melanin concentrating hormone receptors 235 2003-05-13 2006-02-15 2015-11-23 2023-01-20 84539 ENSG00000152034 OTTHUMG00000015270 uc003pqh.1 AF347063 NM_032503 CCDS5044 Q969V1 "11355873|11274220" 606111 objectId:281 HGNC:20867 "ENST00000281806.7|NM_001040179.2" HGNC:48980 MCHR2-AS1 MCHR2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q16.2-q16.3 06q16.2-q16.3 Antisense RNAs 1987 2013-07-24 2018-02-13 728012 ENSG00000229315 OTTHUMG00000015271 NR_038384 MCHR2-AS1 HGNC:48980 HGNC:40050 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "MCI|IDAS" multicilin MCIN multiciliate cell differentiation 1 2012-07-18 2013-02-28 2013-02-28 2023-01-20 345643 ENSG00000234602 OTTHUMG00000162600 uc021xyp.2 FR854393 NM_001190787 CCDS54853 D6RGH6 "21543332|22231168" MGI:3648807 RGD:1584164 614086 470644 HGNC:40050 "ENST00000513312.3|NM_001190787.3" HGNC:40050 -HGNC:6943 MCL1 MCL1 apoptosis regulator, BCL2 family member protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "BCL2L3|Mcl-1" "myeloid cell leukemia sequence 1 (BCL2-related)|myeloid cell leukemia 1|MCL1, BCL2 family apoptosis regulator" BCL2 family 1057 1993-11-09 2019-01-25 2023-01-20 4170 ENSG00000143384 OTTHUMG00000034867 uc001euz.4 BC017197 NM_021960 "CCDS956|CCDS72909|CCDS957" Q07820 "7682708|7835896" MGI:101769 RGD:620525 159552 objectId:2847 HGNC:6943 "ENST00000369026.3|NM_021960.5" +HGNC:6943 MCL1 MCL1 apoptosis regulator, BCL2 family member protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "BCL2L3|Mcl-1" "myeloid cell leukemia sequence 1 (BCL2-related)|myeloid cell leukemia 1|MCL1, BCL2 family apoptosis regulator" BCL2 family 1057 1993-11-09 2019-01-25 2023-01-20 4170 ENSG00000143384 OTTHUMG00000034867 uc001euz.4 BC017197 NM_021960 "CCDS956|CCDS957|CCDS72909" Q07820 "7682708|7835896" MGI:101769 RGD:620525 159552 objectId:2847 HGNC:6943 "ENST00000369026.3|NM_021960.5" HGNC:6944 MCM2 minichromosome maintenance complex component 2 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "D3S3194|KIAA0030|BM28|cdc19|DFNA70" mitotin "CCNL1|CDCL1" "minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)|MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)" "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1993-09-30 2007-04-04 2023-01-20 4171 ENSG00000073111 OTTHUMG00000159637 uc003ejp.5 X67334 NM_004526 CCDS3043 P49736 "1710453|8258304|26196677" MGI:105380 RGD:1305577 116945 459297 HGNC:6944 "ENST00000265056.12|NM_004526.4" HGNC:6944 -HGNC:6945 MCM3 minichromosome maintenance complex component 3 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "minichromosome maintenance deficient (S. cerevisiae) 3|MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)" "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1994-12-13 2007-04-04 2023-01-20 4172 ENSG00000112118 OTTHUMG00000014844 uc063ozz.1 X62153 NM_001270472 "CCDS75468|CCDS4940" P25205 1549468 MGI:101845 RGD:1305168 602693 HGNC:6945 "ENST00000596288.7|NM_002388.6" +HGNC:6945 MCM3 minichromosome maintenance complex component 3 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "minichromosome maintenance deficient (S. cerevisiae) 3|MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)" "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1994-12-13 2007-04-04 2023-01-20 4172 ENSG00000112118 OTTHUMG00000014844 uc063ozz.1 X62153 NM_001270472 "CCDS4940|CCDS75468" P25205 1549468 MGI:101845 RGD:1305168 602693 HGNC:6945 "ENST00000596288.7|NM_002388.6" HGNC:6946 MCM3AP minichromosome maintenance complex component 3 associated protein protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "Map80|KIAA0572|GANP|SAC3" germinal-centre associated nuclear protein "minichromosome maintenance deficient (S. cerevisiae) 3-associated protein|MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein" "Lysine acetyltransferases|Transcription and export complex 2" "486|1276" 1999-03-04 2007-04-04 2023-01-20 8888 ENSG00000160294 OTTHUMG00000090630 uc031rwc.2 AB005543 NM_003906 CCDS13734 O60318 "9712829|16914116|21195085" MGI:1930089 RGD:1306834 603294 HGNC:6946 "ENST00000291688.6|NM_003906.5" HGNC:6946 HGNC:16417 MCM3AP-AS1 MCM3AP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "FLJ10508|NCRNA00031" non-protein coding RNA 31 "C21orf85|MCM3APAS|MCM3AP-AS" "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein, antisense|MCM3AP antisense RNA (non-protein coding)|MCM3AP antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2001-08-24 2010-11-25 2012-08-15 2019-07-11 114044 ENSG00000215424 OTTHUMG00000090639 uc062aza.1 AK001370 NR_002776 "12036297|31237446" MCM3AP-AS1 HGNC:16417 HGNC:6947 MCM4 minichromosome maintenance complex component 4 protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "CDC54|hCdc21|P1-Cdc21|MGC33310" DNA replication licensing factor MCM4 CDC21 MCM4 minichromosome maintenance deficient 4 (S. cerevisiae) "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1994-12-13 2007-04-04 2023-01-20 4173 ENSG00000104738 OTTHUMG00000164205 uc003xqk.3 NM_005914 CCDS6143 P33991 7601140 MGI:103199 RGD:3060 LRG_1239|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1239.xml 602638 294681 HGNC:6947 "ENST00000649973.1|NM_182746.3" HGNC:6947 HGNC:6948 MCM5 minichromosome maintenance complex component 5 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 CDC46 "minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)|MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)" "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1994-12-13 2007-04-04 2023-01-20 4174 ENSG00000100297 OTTHUMG00000150961 uc003anu.5 NM_006739 CCDS13915 P33992 "8751386|10591208" MGI:103197 RGD:1306616 602696 HGNC:6948 "ENST00000216122.9|NM_006739.4" HGNC:6949 MCM6 minichromosome maintenance complex component 6 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 Mis5 MIS5 homolog (S.pombe) "minichromosome maintenance deficient (mis5, S. pombe) 6|MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)|minichromosome maintenance deficient 6 homolog (S. cerevisiae)" "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1996-06-14 2007-04-04 2023-01-20 4175 ENSG00000076003 OTTHUMG00000131739 uc002tuw.5 NM_005915 CCDS2179 Q14566 MGI:1298227 RGD:61967 601806 325604 HGNC:6949 "ENST00000264156.3|NM_005915.6" HGNC:6950 MCM7 minichromosome maintenance complex component 7 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CDC47|PPP1R104" protein phosphatase 1, regulatory subunit 104 MCM2 "minichromosome maintenance deficient (S. cerevisiae) 7|MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)" "Protein phosphatase 1 regulatory subunits|MCM family|MicroRNA protein coding host genes|minichromosome maintenance 2-7 complex" "694|1085|1691|1998" 1994-12-13 2007-04-04 2023-01-20 4176 ENSG00000166508 OTTHUMG00000154671 uc003usw.3 NM_001278595 "CCDS5683|CCDS5684" P33993 7842741 MGI:1298398 RGD:1303018 600592 HGNC:6950 "ENST00000303887.10|NM_005916.5" -HGNC:16147 MCM8 minichromosome maintenance 8 homologous recombination repair factor protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "MGC4816|MGC12866|MGC119522|MGC119523|dJ967N21.5|REC" REC homolog (Drosophila) C20orf154 "chromosome 20 open reading frame 154|minichromosome maintenance complex component 8" MCM family 1085 2001-07-17 2003-07-09 2015-08-25 2023-01-20 84515 ENSG00000125885 OTTHUMG00000031822 uc002wmk.4 AJ439063 NM_032485 "CCDS63227|CCDS13095|CCDS63226|CCDS13094" Q9UJA3 12527764 MGI:1913884 RGD:1305218 608187 423433 HGNC:16147 "ENST00000610722.4|NM_032485.6" HGNC:16147 +HGNC:16147 MCM8 minichromosome maintenance 8 homologous recombination repair factor protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "MGC4816|MGC12866|MGC119522|MGC119523|dJ967N21.5|REC" REC homolog (Drosophila) C20orf154 "chromosome 20 open reading frame 154|minichromosome maintenance complex component 8" MCM family 1085 2001-07-17 2003-07-09 2015-08-25 2023-01-20 84515 ENSG00000125885 OTTHUMG00000031822 uc002wmk.4 AJ439063 NM_032485 "CCDS13095|CCDS13094|CCDS63226|CCDS63227" Q9UJA3 12527764 MGI:1913884 RGD:1305218 608187 423433 HGNC:16147 "ENST00000610722.4|NM_032485.6" HGNC:16147 HGNC:51230 MCM8-AS1 MCM8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 Antisense RNAs 1987 2014-08-08 2014-08-08 101929225 ENSG00000278719 OTTHUMG00000186611 AK058185 NR_110101 MCM8-AS1 HGNC:51230 -HGNC:21484 MCM9 minichromosome maintenance 9 homologous recombination repair factor protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "MGC35304|dJ329L24.3|FLJ20170" "MCMDC1|C6orf61" "minichromosome maintenance deficient domain containing 1|chromosome 6 open reading frame 61|minichromosome maintenance complex component 9" MCM family 1085 2003-06-18 2007-04-04 2015-08-25 2023-01-20 254394 ENSG00000111877 OTTHUMG00000015468 uc063qzj.1 BC031658 NM_153255 "CCDS5121|CCDS56447" Q9NXL9 "16226853|15850810|16495042" MGI:1918817 RGD:1560557 610098 448630 HGNC:21484 "ENST00000619706.5|NM_017696.3" HGNC:21484 +HGNC:21484 MCM9 minichromosome maintenance 9 homologous recombination repair factor protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "MGC35304|dJ329L24.3|FLJ20170" "MCMDC1|C6orf61" "minichromosome maintenance deficient domain containing 1|chromosome 6 open reading frame 61|minichromosome maintenance complex component 9" MCM family 1085 2003-06-18 2007-04-04 2015-08-25 2023-01-20 254394 ENSG00000111877 OTTHUMG00000015468 uc063qzj.1 BC031658 NM_153255 "CCDS56447|CCDS5121" Q9NXL9 "16226853|15850810|16495042" MGI:1918817 RGD:1560557 610098 448630 HGNC:21484 "ENST00000619706.5|NM_017696.3" HGNC:21484 HGNC:18043 MCM10 minichromosome maintenance 10 replication initiation factor protein-coding gene gene with protein product Approved 10p13 10p13 "PRO2249|CNA43|DNA43" "MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)|minichromosome maintenance complex component 10" 2002-01-22 2015-08-25 2023-01-20 55388 ENSG00000065328 OTTHUMG00000017694 uc001ima.4 AB042719 NM_182751 "CCDS7096|CCDS7095" Q7L590 "11095689|17699597" MGI:1917274 RGD:1311330 609357 HGNC:18043 "ENST00000378714.8|NM_018518.5" HGNC:25782 MCMBP minichromosome maintenance complex binding protein protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "FLJ13081|MCM-BP" C10orf119 chromosome 10 open reading frame 119 2004-04-23 2011-01-05 2011-01-05 2023-01-20 79892 ENSG00000197771 OTTHUMG00000019159 uc001ler.4 BC007219 NM_024834 "CCDS7617|CCDS58099" Q9BTE3 17296731 MGI:1920977 RGD:1306730 610909 HGNC:25782 "ENST00000369077.4|NM_001256378.2" -HGNC:26368 MCMDC2 minichromosome maintenance domain containing 2 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 FLJ25692 C8orf45 chromosome 8 open reading frame 45 MCM family 1085 2005-08-04 2012-04-13 2012-04-13 2023-01-20 157777 ENSG00000178460 OTTHUMG00000157068 uc003xwz.4 BC034576 NM_173518 "CCDS47868|CCDS6197|CCDS47869" Q4G0Z9 MGI:3045334 RGD:1561068 617545 HGNC:26368 "ENST00000422365.7|NM_173518.5" +HGNC:26368 MCMDC2 minichromosome maintenance domain containing 2 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 FLJ25692 C8orf45 chromosome 8 open reading frame 45 MCM family 1085 2005-08-04 2012-04-13 2012-04-13 2023-01-20 157777 ENSG00000178460 OTTHUMG00000157068 uc003xwz.4 BC034576 NM_173518 "CCDS47868|CCDS47869|CCDS6197" Q4G0Z9 MGI:3045334 RGD:1561068 617545 HGNC:26368 "ENST00000422365.7|NM_173518.5" HGNC:13356 MCOLN1 mucolipin TRP cation channel 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TRPML1|ML4|MLIV|MST080|MSTP080|TRPM-L1" "mucolipidosis type IV|transient receptor potential cation channel mucolipin subfamily member 1|transient receptor potential mucolipin 1" mucolipin 1 Transient receptor potential cation channels 249 2000-09-19 2020-10-29 2023-01-20 57192 ENSG00000090674 OTTHUMG00000182046 uc002mgo.4 AF249319 NM_020533 CCDS12180 Q9GZU1 16382100 MGI:1890498 RGD:1308953 605248 123175 objectId:501 HGNC:13356 "ENST00000264079.11|NM_020533.3" HGNC:13356 HGNC:13357 MCOLN2 mucolipin TRP cation channel 2 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "TRPML2|FLJ36691|TRP-ML2" mucolipin 2 Transient receptor potential cation channels 249 2003-04-04 2020-10-29 2023-01-20 255231 ENSG00000153898 OTTHUMG00000009954 uc001dkm.4 AK094010 NM_153259 "CCDS81347|CCDS30762" Q8IZK6 16382100 MGI:1915529 RGD:1308884 607399 objectId:502 HGNC:13357 "ENST00000370608.8|NM_153259.4" HGNC:13358 MCOLN3 mucolipin TRP cation channel 3 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "TRPML3|FLJ11006|TRP-ML3" mucolipin 3 Transient receptor potential cation channels 249 2003-04-04 2020-10-29 2023-01-20 55283 ENSG00000055732 OTTHUMG00000009955 uc001dkp.4 AF475085 NM_018298 "CCDS58009|CCDS701" Q8TDD5 16382100 MGI:1890500 RGD:1308420 607400 objectId:503 HGNC:13358 "ENST00000370589.7|NM_018298.11" -HGNC:6954 MCPH1 microcephalin 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "FLJ12847|BRIT1" BRCT-repeat inhibitor of TERT expression 1 microcephaly, primary autosomal recessive 1 1998-02-11 2007-11-26 2023-01-20 79648 ENSG00000147316 OTTHUMG00000163618 uc003wqi.4 AK022909 NM_024596 "CCDS94246|CCDS55191|CCDS94250|CCDS94245|CCDS94248|CCDS94249|CCDS55190|CCDS43689|CCDS94247" Q8NEM0 "9683597|17925396" MGI:2443308 RGD:1560642 607117 123183 HGNC:6954 "ENST00000344683.10|NM_024596.5" HGNC:6954 +HGNC:6954 MCPH1 microcephalin 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "FLJ12847|BRIT1" BRCT-repeat inhibitor of TERT expression 1 microcephaly, primary autosomal recessive 1 1998-02-11 2007-11-26 2023-01-20 79648 ENSG00000147316 OTTHUMG00000163618 uc003wqi.4 AK022909 NM_024596 "CCDS94250|CCDS94249|CCDS55191|CCDS94247|CCDS94248|CCDS94245|CCDS55190|CCDS94246|CCDS43689" Q8NEM0 "9683597|17925396" MGI:2443308 RGD:1560642 607117 123183 HGNC:6954 "ENST00000344683.10|NM_024596.5" HGNC:6954 HGNC:51655 MCPH1-AS1 MCPH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Antisense RNAs 1987 2015-04-24 2015-04-24 100507530 ENSG00000249898 OTTHUMG00000163619 NR_125386 MCPH1-AS1 HGNC:51655 HGNC:55599 MCPH1-DT MCPH1 divergent transcript non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Divergent transcripts 1990 2021-05-05 2021-05-05 100287015 ENSG00000246089 NR_040040 -HGNC:28007 MCRIP1 MAPK regulated corepressor interacting protein 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "GRAN2|MCRIP" granulin-2 FAM195B "family with sequence similarity 195, member B|family with sequence similarity 195 member B" 2009-09-10 2016-04-15 2016-05-24 2023-01-20 348262 ENSG00000225663 uc010wuy.3 NM_001093767 "CCDS74178|CCDS74179|CCDS45814" C9JLW8 "26184334|25728771" MGI:2384752 RGD:1311925 616514 HGNC:28007 "ENST00000455127.7|NM_207368.5" +HGNC:28007 MCRIP1 MAPK regulated corepressor interacting protein 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "GRAN2|MCRIP" granulin-2 FAM195B "family with sequence similarity 195, member B|family with sequence similarity 195 member B" 2009-09-10 2016-04-15 2016-05-24 2023-01-20 348262 ENSG00000225663 uc010wuy.3 NM_001093767 "CCDS45814|CCDS74179|CCDS74178" C9JLW8 "26184334|25728771" MGI:2384752 RGD:1311925 616514 HGNC:28007 "ENST00000455127.7|NM_207368.5" HGNC:14142 MCRIP2 MAPK regulated corepressor interacting protein 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC15416 "C16orf14|FAM195A" "chromosome 16 open reading frame 14|family with sequence similarity 195, member A|family with sequence similarity 195 member A" 2000-12-21 2016-04-15 2016-05-24 2023-03-15 84331 ENSG00000172366 OTTHUMG00000048042 uc002cic.2 BC001912 NM_138418 CCDS10415 Q9BUT9 26184334 MGI:1915491 RGD:1592603 HGNC:14142 "ENST00000307650.9|NM_138418.4" HGNC:49629 MCRIP2P1 MAPK regulated corepressor interacting protein 2 pseudogene 1 pseudogene pseudogene Approved Xq26.2 Xq26.2 FAM195CP family with sequence similarity 195, member C, pseudogene 2014-01-24 2016-04-15 2016-05-24 2016-05-24 102388891 ENSG00000241418 OTTHUMG00000022416 NG_033826 PGOHUM00000304853 HGNC:49629 HGNC:49631 MCRIP2P2 MAPK regulated corepressor interacting protein 2 pseudogene 2 pseudogene pseudogene Approved 1q25.3 01q25.3 "FAM195DP|MCRIP2P1" "family with sequence similarity 195, member D, pseudogene|MAPK regulated co-repressor interacting protein 2 pseudogene 2" 2014-01-28 2016-04-15 2016-05-24 2016-05-24 106480278 ENSG00000270920 OTTHUMG00000184457 NG_044089 PGOHUM00000296692 HGNC:49631 -HGNC:6960 MCRS1 microspherule protein 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "ICP22BP|MSP58|P78|MCRS2|INO80Q" INO80 complex subunit Q "INO80 complex |NSL histone acetyltransferase complex" "595|1482" 1999-12-14 2023-01-20 10445 ENSG00000187778 OTTHUMG00000169620 uc001ruk.3 BC011794 NM_006337 "CCDS8787|CCDS61118|CCDS31795" Q96EZ8 "9765390|9654073" MGI:1858420 RGD:1311607 609504 HGNC:6960 "ENST00000343810.9|NM_006337.5" -HGNC:26183 MCTP1 multiple C2 and transmembrane domain containing 1 protein-coding gene gene with protein product Approved 5q15 05q15 FLJ22344 multiple C2 domains, transmembrane 1 Multiple C2 and transmembrane domain containing 826 2005-11-07 2016-01-22 2023-01-20 79772 ENSG00000175471 OTTHUMG00000162742 uc003kkx.4 NM_024717 "CCDS47247|CCDS34203|CCDS93747|CCDS75275" Q6DN14 15528213 MGI:1926021 RGD:1305199 616296 HGNC:26183 "ENST00000515393.6|NM_024717.7" +HGNC:6960 MCRS1 microspherule protein 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "ICP22BP|MSP58|P78|MCRS2|INO80Q" INO80 complex subunit Q "INO80 complex |NSL histone acetyltransferase complex" "595|1482" 1999-12-14 2023-01-20 10445 ENSG00000187778 OTTHUMG00000169620 uc001ruk.3 BC011794 NM_006337 "CCDS31795|CCDS8787|CCDS61118" Q96EZ8 "9765390|9654073" MGI:1858420 RGD:1311607 609504 HGNC:6960 "ENST00000343810.9|NM_006337.5" +HGNC:26183 MCTP1 multiple C2 and transmembrane domain containing 1 protein-coding gene gene with protein product Approved 5q15 05q15 FLJ22344 multiple C2 domains, transmembrane 1 Multiple C2 and transmembrane domain containing 826 2005-11-07 2016-01-22 2023-01-20 79772 ENSG00000175471 OTTHUMG00000162742 uc003kkx.4 NM_024717 "CCDS34203|CCDS93747|CCDS75275|CCDS47247" Q6DN14 15528213 MGI:1926021 RGD:1305199 616296 HGNC:26183 "ENST00000515393.6|NM_024717.7" HGNC:54085 MCTP1-AS1 MCTP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q15 05q15 ENST00000503710 Antisense RNAs 1987 2018-10-19 2018-10-19 113523641 ENSG00000249545 26131074 -HGNC:25636 MCTP2 multiple C2 and transmembrane domain containing 2 protein-coding gene gene with protein product Approved 15q26.2 15q26.2 "FLJ11175|FLJ33303" multiple C2 domains, transmembrane 2 Multiple C2 and transmembrane domain containing 826 2005-11-07 2016-06-28 2023-01-20 55784 ENSG00000140563 OTTHUMG00000171751 uc002btj.4 AK002037 NM_018349 "CCDS53975|CCDS53976|CCDS32338" Q6DN12 15528213 MGI:2685335 RGD:1562967 616297 369806 HGNC:25636 "ENST00000357742.10|NM_001385001.1" -HGNC:23357 MCTS1 MCTS1 re-initiation and release factor protein-coding gene gene with protein product Approved Xq24 Xq24 MCT-1 multiple copies in T-cell lymphoma-1 "malignant T-cell amplified sequence 1|MCTS1, re-initiation and release factor" 2003-11-17 2019-01-22 2023-01-20 28985 ENSG00000232119 OTTHUMG00000022303 uc004esx.4 AB034206 NM_014060 "CCDS48160|CCDS14601" Q9ULC4 "9766643|16982740|25043021" MGI:1916245 RGD:1566390 300587 HGNC:23357 "ENST00000371317.10|NM_014060.3" +HGNC:25636 MCTP2 multiple C2 and transmembrane domain containing 2 protein-coding gene gene with protein product Approved 15q26.2 15q26.2 "FLJ11175|FLJ33303" multiple C2 domains, transmembrane 2 Multiple C2 and transmembrane domain containing 826 2005-11-07 2016-06-28 2023-01-20 55784 ENSG00000140563 OTTHUMG00000171751 uc002btj.4 AK002037 NM_018349 "CCDS32338|CCDS53975|CCDS53976" Q6DN12 15528213 MGI:2685335 RGD:1562967 616297 369806 HGNC:25636 "ENST00000357742.10|NM_001385001.1" +HGNC:23357 MCTS1 MCTS1 re-initiation and release factor protein-coding gene gene with protein product Approved Xq24 Xq24 MCT-1 multiple copies in T-cell lymphoma-1 "malignant T-cell amplified sequence 1|MCTS1, re-initiation and release factor" 2003-11-17 2019-01-22 2023-01-20 28985 ENSG00000232119 OTTHUMG00000022303 uc004esx.4 AB034206 NM_014060 "CCDS14601|CCDS48160" Q9ULC4 "9766643|16982740|25043021" MGI:1916245 RGD:1566390 300587 HGNC:23357 "ENST00000371317.10|NM_014060.3" HGNC:49760 MCTS2 MCTS family member 2 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 psiMCT-1 MCTS2P "malignant T cell amplified sequence 2, pseudogene|MCTS family member 2, pseudogene" 2014-03-03 2021-11-18 2021-11-18 2023-01-20 100101490 ENSG00000101898 OTTHUMG00000032177 NM_001397496 CCDS93025 A0A3B3IRV3 "16815567|24402520" MGI:1913655 620406 PGOHUM00000247641 HGNC:49760 "ENST00000394552.4|NM_001397496.1" -HGNC:23526 MCU mitochondrial calcium uniporter protein-coding gene gene with protein product Approved 10q22.1 10q22.1 FLJ46135 "C10orf42|CCDC109A" coiled-coil domain containing 109A MicroRNA protein coding host genes 1691 2003-11-21 2011-06-23 2011-06-23 2023-01-20 90550 ENSG00000156026 OTTHUMG00000018443 uc001jtc.3 BC034235 NM_138357 "CCDS59218|CCDS59219|CCDS7317" Q8NE86 "21685886|21685888" MGI:3026965 RGD:1589771 614197 HGNC:23526 "ENST00000373053.8|NM_138357.3" +HGNC:23526 MCU mitochondrial calcium uniporter protein-coding gene gene with protein product Approved 10q22.1 10q22.1 FLJ46135 "C10orf42|CCDC109A" coiled-coil domain containing 109A MicroRNA protein coding host genes 1691 2003-11-21 2011-06-23 2011-06-23 2023-01-20 90550 ENSG00000156026 OTTHUMG00000018443 uc001jtc.3 BC034235 NM_138357 "CCDS59218|CCDS7317|CCDS59219" Q8NE86 "21685886|21685888" MGI:3026965 RGD:1589771 614197 HGNC:23526 "ENST00000373053.8|NM_138357.3" HGNC:26076 MCUB mitochondrial calcium uniporter dominant negative subunit beta protein-coding gene gene with protein product Approved 4q25 04q25 FLJ20647 CCDC109B coiled-coil domain containing 109B 2006-05-22 2016-06-10 2019-11-26 2023-01-20 55013 ENSG00000005059 OTTHUMG00000161103 uc011cfs.3 BC002633 NM_017918 CCDS3683 Q9NWR8 23900286 MGI:1914065 RGD:1305326 HGNC:26076 "ENST00000394650.7|NM_017918.5" HGNC:21097 MCUR1 mitochondrial calcium uniporter regulator 1 protein-coding gene gene with protein product Approved 6p23 06p23 FLJ20958 "C6orf79|CCDC90A" "chromosome 6 open reading frame 79|coiled-coil domain containing 90A" 2003-05-19 2013-03-13 2013-03-13 2023-03-15 63933 ENSG00000050393 OTTHUMG00000014279 uc003nbc.3 BC016850 NM_022102 CCDS35495 Q96AQ8 23178883 MGI:1923387 RGD:1307673 616952 HGNC:21097 "ENST00000379170.9|NM_001031713.4" HGNC:1217 MCUR1P1 MCUR1 pseudogene 1 pseudogene pseudogene Approved 17p13.3 17p13.3 "C17orf23|CCDC90AP1" "chromosome 17 open reading frame 23|coiled-coil domain containing 90A pseudogene 1" 2000-05-05 2017-10-09 2017-10-09 2017-10-09 53383 ENSG00000262402 OTTHUMG00000177685 NG_026139 PGOHUM00000293937 HGNC:1217 @@ -18221,37 +18223,37 @@ HGNC:28870 MDFIC MyoD family inhibitor domain containing protein-coding gene gen HGNC:53442 MDFIC2 MyoD family inhibitor domain containing 2 protein-coding gene gene with protein product Approved 3p13 03p13 2017-04-13 2023-01-20 107986096 ENSG00000242120 OTTHUMG00000158801 NM_001364676 CCDS93309 A0A1B0GVS7 MGI:2685611 RGD:2323009 HGNC:53442 "ENST00000567252.2|NM_001364677.1" HGNC:19267 MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "GPIM|MAMDC3" I-set domain containing 593 2002-10-08 2023-01-20 266727 ENSG00000112139 OTTHUMG00000014626 uc003onu.2 AF478693 NM_153487 CCDS47417 Q8NFP4 "15922729|15019943" MGI:1922012 RGD:1307031 609626 HGNC:19267 "ENST00000434837.8|NM_153487.4" HGNC:19835 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 MAMDC1 MAM domain containing 1 I-set domain containing 593 2002-11-27 2007-04-03 2007-04-03 2023-01-20 161357 ENSG00000139915 OTTHUMG00000029429 uc001wwj.6 AI859192 NM_182830 "CCDS45098|CCDS41948" Q7Z553 15019943 MGI:2444706 RGD:735131 611128 HGNC:19835 "ENST00000399232.8|NM_001113498.3" -HGNC:6970 MDH1 malate dehydrogenase 1 protein-coding gene gene with protein product Approved 2p15 02p15 malate dehydrogenase 1, NAD (soluble) 2001-06-22 2015-11-13 2023-03-15 4190 ENSG00000014641 OTTHUMG00000129512 uc002scj.3 NM_001316374 "CCDS92766|CCDS56121|CCDS1874" P40925 MGI:97051 RGD:3072 154200 1.1.1.37 HGNC:6970 "ENST00000233114.13|NM_005917.4" HGNC:6970 -HGNC:17836 MDH1B malate dehydrogenase 1B protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "FLJ25341|RP11-95H11" malate dehydrogenase 1B, NAD (soluble) 2002-01-29 2015-11-13 2023-03-15 130752 ENSG00000138400 OTTHUMG00000132918 uc002vbs.5 NM_001039845 "CCDS82561|CCDS33365|CCDS63102" Q5I0G3 MGI:1923918 RGD:1307874 HGNC:17836 "ENST00000374412.8|NM_001039845.3" +HGNC:6970 MDH1 malate dehydrogenase 1 protein-coding gene gene with protein product Approved 2p15 02p15 malate dehydrogenase 1, NAD (soluble) 2001-06-22 2015-11-13 2023-03-15 4190 ENSG00000014641 OTTHUMG00000129512 uc002scj.3 NM_001316374 "CCDS1874|CCDS92766|CCDS56121" P40925 MGI:97051 RGD:3072 154200 1.1.1.37 HGNC:6970 "ENST00000233114.13|NM_005917.4" HGNC:6970 +HGNC:17836 MDH1B malate dehydrogenase 1B protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "FLJ25341|RP11-95H11" malate dehydrogenase 1B, NAD (soluble) 2002-01-29 2015-11-13 2023-03-15 130752 ENSG00000138400 OTTHUMG00000132918 uc002vbs.5 NM_001039845 "CCDS82561|CCDS63102|CCDS33365" Q5I0G3 MGI:1923918 RGD:1307874 HGNC:17836 "ENST00000374412.8|NM_001039845.3" HGNC:54968 MDH1P1 MDH1 pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 2020-05-13 2020-05-13 392477 ENSG00000227427 NG_022662 HGNC:54969 MDH1P2 MDH1 pseudogene 2 pseudogene pseudogene Approved 6p22.3 06p22.3 2020-05-13 2020-05-13 644906 ENSG00000217585 NG_022346 -HGNC:6971 MDH2 malate dehydrogenase 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 malate dehydrogenase 2, NAD (mitochondrial) 1986-01-01 2015-11-13 2023-01-20 4191 ENSG00000146701 OTTHUMG00000023827 uc003ueo.5 NM_005918 "CCDS75622|CCDS64691|CCDS5581" P40926 MGI:97050 RGD:619719 154100 470648 1.1.1.37 HGNC:6971 "ENST00000315758.10|NM_005918.4" HGNC:6971 +HGNC:6971 MDH2 malate dehydrogenase 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 malate dehydrogenase 2, NAD (mitochondrial) 1986-01-01 2015-11-13 2023-01-20 4191 ENSG00000146701 OTTHUMG00000023827 uc003ueo.5 NM_005918 "CCDS64691|CCDS75622|CCDS5581" P40926 MGI:97050 RGD:619719 154100 470648 1.1.1.37 HGNC:6971 "ENST00000315758.10|NM_005918.4" HGNC:6971 HGNC:6972 MDK midkine protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "MK|FLJ27379" NEGF2 neurite growth-promoting factor 2 1991-07-10 2017-08-04 2023-01-20 4192 ENSG00000110492 OTTHUMG00000150315 uc031qav.2 NM_001012334 "CCDS59226|CCDS7919" P21741 8406506 MGI:96949 RGD:69073 162096 HGNC:6972 "ENST00000395566.9|NM_002391.6" -HGNC:29917 MDM1 Mdm1 nuclear protein protein-coding gene gene with protein product Approved 12q15 12q15 "Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)|Mdm1 nuclear protein homolog (mouse)" 2004-12-20 2015-06-19 2023-01-20 56890 ENSG00000111554 OTTHUMG00000169136 uc001stz.3 AF007130 NM_020128 "CCDS44938|CCDS55842|CCDS91723|CCDS55841|CCDS8983" Q8TC05 "8619474|9110174" MGI:96951 RGD:1561092 613813 HGNC:29917 "ENST00000682720.1|NM_001354969.2" HGNC:29917 -HGNC:6973 MDM2 MDM2 proto-oncogene protein-coding gene gene with protein product Approved 12q15 12q15 "HDM2|MGC5370" "mouse double minute 2, human homolog of; p53-binding protein|Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)|Mdm2 p53 binding protein homolog (mouse)|MDM2 proto-oncogene, E3 ubiquitin protein ligase" "Ring finger proteins|Zinc fingers RANBP2-type " "58|89" 1993-12-10 2016-03-14 2023-03-15 4193 ENSG00000135679 OTTHUMG00000142827 uc001sui.6 NM_002392 "CCDS61189|CCDS8986|CCDS91724" Q00987 "1614537|16905769|29123033" MGI:96952 RGD:1305332 MDM2 164785 321350 objectId:3136 HGNC:6973 "ENST00000258149.11|NM_002392.6" -HGNC:6974 MDM4 MDM4 regulator of p53 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "MDMX|HDMX" "mouse double minute 4, human homolog of; p53-binding protein|Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)|Mdm4 p53 binding protein homolog (mouse)|MDM4, p53 regulator" Ring finger proteins 58 1997-09-05 2019-01-25 2023-01-20 4194 ENSG00000198625 OTTHUMG00000035877 uc001hba.4 AF007111 NM_002393 "CCDS55674|CCDS73007|CCDS73009|CCDS60396|CCDS1447|CCDS73008|CCDS55675" O15151 "9226370|14660608|26798135" MGI:107934 RGD:1309306 MDM4 602704 HGNC:6974 "ENST00000367182.8|NM_002393.5" +HGNC:29917 MDM1 Mdm1 nuclear protein protein-coding gene gene with protein product Approved 12q15 12q15 "Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)|Mdm1 nuclear protein homolog (mouse)" 2004-12-20 2015-06-19 2023-01-20 56890 ENSG00000111554 OTTHUMG00000169136 uc001stz.3 AF007130 NM_020128 "CCDS91723|CCDS44938|CCDS55841|CCDS55842|CCDS8983" Q8TC05 "8619474|9110174" MGI:96951 RGD:1561092 613813 HGNC:29917 "ENST00000682720.1|NM_001354969.2" HGNC:29917 +HGNC:6973 MDM2 MDM2 proto-oncogene protein-coding gene gene with protein product Approved 12q15 12q15 "HDM2|MGC5370" "mouse double minute 2, human homolog of; p53-binding protein|Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)|Mdm2 p53 binding protein homolog (mouse)|MDM2 proto-oncogene, E3 ubiquitin protein ligase" "Ring finger proteins|Zinc fingers RANBP2-type " "58|89" 1993-12-10 2016-03-14 2023-03-15 4193 ENSG00000135679 OTTHUMG00000142827 uc001sui.6 NM_002392 "CCDS61189|CCDS91724|CCDS8986" Q00987 "1614537|16905769|29123033" MGI:96952 RGD:1305332 MDM2 164785 321350 objectId:3136 HGNC:6973 "ENST00000258149.11|NM_002392.6" +HGNC:6974 MDM4 MDM4 regulator of p53 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "MDMX|HDMX" "mouse double minute 4, human homolog of; p53-binding protein|Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)|Mdm4 p53 binding protein homolog (mouse)|MDM4, p53 regulator" Ring finger proteins 58 1997-09-05 2019-01-25 2023-01-20 4194 ENSG00000198625 OTTHUMG00000035877 uc001hba.4 AF007111 NM_002393 "CCDS1447|CCDS55674|CCDS73007|CCDS60396|CCDS55675|CCDS73009|CCDS73008" O15151 "9226370|14660608|26798135" MGI:107934 RGD:1309306 MDM4 602704 HGNC:6974 "ENST00000367182.8|NM_002393.5" HGNC:54898 MDM4P1 MDM4 pseudogene 1 pseudogene pseudogene Approved Xp22.13 Xp22.13 2020-04-17 2020-04-17 100533712 ENSG00000225066 NG_028795 HGNC:18302 MDN1 midasin AAA ATPase 1 protein-coding gene gene with protein product Approved 6q15 06q15 "KIAA0301|Rea1" MDN1, midasin homolog (yeast) AAA ATPases 413 2002-03-12 2015-06-26 2023-01-20 23195 ENSG00000112159 OTTHUMG00000015213 uc003pnn.2 AF503925 NM_014611 CCDS5024 Q9NU22 12102729 MGI:1926159 RGD:1306394 618200 HGNC:18302 "ENST00000369393.8|NM_014611.3" HGNC:40837 MDN1-AS1 MDN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q15 06q15 Antisense RNAs 1987 2021-07-29 2021-07-29 101929057 ENSG00000228124 OTTHUMG00000015204 NR_111915 HGNC:28781 MDP1 magnesium dependent phosphatase 1 protein-coding gene gene with protein product Approved 14q12 14q12 "MGC5987|FN6Pase" fructosamine-6-phosphatase HAD Asp-based protein phosphatases 702 2009-07-09 2016-06-08 2023-01-20 145553 ENSG00000213920 OTTHUMG00000133477 uc001wnl.3 BC046912 NM_138476 "CCDS9620|CCDS55908" Q86V88 "10889041|16670083" MGI:1915131 RGD:1311147 HGNC:28781 "ENST00000288087.12|NM_138476.4" HGNC:29633 MDS2 myelodysplastic syndrome 2 translocation associated non-coding RNA RNA, long non-coding Approved 1p36 01p36 Long non-coding RNAs with non-systematic symbols 1992 2005-05-24 2021-02-11 259283 ENSG00000197880 OTTHUMG00000002927 uc057dgf.1 AJ310434 NR_167901 Q8NDY4 12203785 607305 HGNC:29633 HGNC:6983 ME1 malic enzyme 1 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 "malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+))|NADP-dependent malic enzyme" malic enzyme 1, NADP(+)-dependent, cytosolic 2001-06-22 2016-04-06 2023-01-20 4199 ENSG00000065833 OTTHUMG00000015111 uc003pjy.4 X77244 NM_002395 CCDS34492 P48163 8187880 MGI:97043 RGD:3074 154250 1.1.1.40 HGNC:6983 "ENST00000369705.4|NM_002395.6" -HGNC:6984 ME2 malic enzyme 2 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "NAD-dependent malic enzyme, mitochondrial|malate dehydrogenase (oxaloacetate-decarboxylating)" malic enzyme 2, NAD(+)-dependent, mitochondrial 2001-06-22 2016-04-06 2023-01-20 4200 ENSG00000082212 OTTHUMG00000132694 uc002ley.4 M55905 NM_002396 "CCDS54187|CCDS11948" P23368 1993674 MGI:2147351 RGD:1310321 154270 1.1.1.38 HGNC:6984 "ENST00000321341.11|NM_002396.5" HGNC:6984 +HGNC:6984 ME2 malic enzyme 2 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "NAD-dependent malic enzyme, mitochondrial|malate dehydrogenase (oxaloacetate-decarboxylating)" malic enzyme 2, NAD(+)-dependent, mitochondrial 2001-06-22 2016-04-06 2023-01-20 4200 ENSG00000082212 OTTHUMG00000132694 uc002ley.4 M55905 NM_002396 "CCDS11948|CCDS54187" P23368 1993674 MGI:2147351 RGD:1310321 154270 1.1.1.38 HGNC:6984 "ENST00000321341.11|NM_002396.5" HGNC:6984 HGNC:49809 ME2P1 malic enzyme 2 pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 malic enzyme 2, NAD(+)-dependent, mitochondrial pseudogene 1 2014-03-06 2016-04-29 2016-04-29 286239 ENSG00000230097 OTTHUMG00000019724 NG_016134 PGOHUM00000235999 HGNC:49809 HGNC:6985 ME3 malic enzyme 3 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+)) malic enzyme 3, NADP(+)-dependent, mitochondrial 2000-01-12 2016-04-29 2023-01-20 10873 ENSG00000151376 OTTHUMG00000167217 uc009yvk.4 X79440 NM_001014811 CCDS8277 Q16798 7818469 MGI:1916679 RGD:1311070 604626 1.1.1.40 HGNC:6985 HGNC:54182 ME3-DT ME3 divergent transcript non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 Divergent transcripts 1990 2019-02-14 2019-02-14 107984427 "HY100036|HY077587" HGNC:54182 HGNC:6986 MEA1 male-enhanced antigen 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MEA male-enhanced antigen 1995-08-29 2005-06-02 2005-06-02 2023-01-20 4201 ENSG00000124733 OTTHUMG00000014717 uc003otk.4 NM_001318942 "CCDS87406|CCDS87405|CCDS4879" Q16626 "2813404|12444059" MGI:96957 RGD:1597751 143170 HGNC:6986 "ENST00000244711.4|NM_014623.4" -HGNC:25674 MEAF6 MYST/Esa1 associated factor 6 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "NY-SAR-91|FLJ11730|Eaf6|CENP-28" "Esa1p-associated factor 6 homolog (S. cerevisiae)|centromere protein 28" C1orf149 "chromosome 1 open reading frame 149|MYST/Esa1-associated factor 6" "Tip60/Nua4 histone acetyltransferase complex subunits|MicroRNA protein coding host genes" "1634|1691" 2005-07-13 2009-07-13 2016-03-09 2023-01-20 64769 ENSG00000163875 OTTHUMG00000004223 uc001cbe.4 BC016328 NM_022756 "CCDS59196|CCDS59195|CCDS418" Q9HAF1 "8619474|9110174|12963728|14966270|16387653" MGI:1917338 RGD:1310440 611001 HGNC:25674 "ENST00000296214.10|NM_001270875.3" +HGNC:25674 MEAF6 MYST/Esa1 associated factor 6 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "NY-SAR-91|FLJ11730|Eaf6|CENP-28" "Esa1p-associated factor 6 homolog (S. cerevisiae)|centromere protein 28" C1orf149 "chromosome 1 open reading frame 149|MYST/Esa1-associated factor 6" "Tip60/Nua4 histone acetyltransferase complex subunits|MicroRNA protein coding host genes" "1634|1691" 2005-07-13 2009-07-13 2016-03-09 2023-01-20 64769 ENSG00000163875 OTTHUMG00000004223 uc001cbe.4 BC016328 NM_022756 "CCDS59195|CCDS59196|CCDS418" Q9HAF1 "8619474|9110174|12963728|14966270|16387653" MGI:1917338 RGD:1310440 611001 HGNC:25674 "ENST00000296214.10|NM_001270875.3" HGNC:42660 MEAF6P1 MYST/Esa1-associated factor 6 pseudogene 1 pseudogene pseudogene Approved 2q34 02q34 2011-08-12 2011-08-12 100874045 ENSG00000240286 OTTHUMG00000154706 NG_032529 PGOHUM00000241097 HGNC:42660 HGNC:29325 MEAK7 MTOR associated protein, eak-7 homolog protein-coding gene gene with protein product Approved 16q24.1 16q24.1 mEAK-7 "TLD domain containing 1|mammalian EAK-7" "KIAA1609|TLDC1" "KIAA1609|TBC/LysM-associated domain containing 1" TLDc domain containing 2055 2006-04-07 2018-07-20 2018-07-20 2023-01-20 57707 ENSG00000140950 OTTHUMG00000176739 uc059xwo.1 AB046829 NM_020947 CCDS32498 Q6P9B6 "26668325|29750193" MGI:1921597 RGD:1308461 619331 HGNC:29325 "ENST00000343629.11|NM_020947.4" -HGNC:3498 MECOM MDS1 and EVI1 complex locus protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "MDS1-EVI1|PRDM3|KMT8E" PR domain 3 "MDS1|EVI1" "myelodysplasia syndrome 1|ecotropic viral integration site 1" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family" "28|487|1197" 1990-07-10 2009-08-07 2009-08-07 2023-01-20 2122 ENSG00000085276 OTTHUMG00000158596 uc003ffi.3 "S82592|AF164154" "NM_005241|NM_004991" "CCDS54670|CCDS54669|CCDS93423|CCDS3205|CCDS93425|CCDS93424" Q03112 "2115646|8171026|8643684" MGI:95457 RGD:1310997 LRG_1118|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1118.xml MECOM 165215 160253 HGNC:3498 "ENST00000651503.2|NM_004991.4" HGNC:3498 +HGNC:3498 MECOM MDS1 and EVI1 complex locus protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "MDS1-EVI1|PRDM3|KMT8E" PR domain 3 "MDS1|EVI1" "myelodysplasia syndrome 1|ecotropic viral integration site 1" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family" "28|487|1197" 1990-07-10 2009-08-07 2009-08-07 2023-01-20 2122 ENSG00000085276 OTTHUMG00000158596 uc003ffi.3 "S82592|AF164154" "NM_005241|NM_004991" "CCDS3205|CCDS93425|CCDS93424|CCDS54670|CCDS93423|CCDS54669" Q03112 "2115646|8171026|8643684" MGI:95457 RGD:1310997 LRG_1118|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1118.xml MECOM 165215 160253 HGNC:3498 "ENST00000651503.2|NM_004991.4" HGNC:3498 HGNC:40368 MECOM-AS1 MECOM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.2 03q26.2 Antisense RNAs 1987 2019-08-16 2019-08-16 105374205 ENSG00000241479 OTTHUMG00000158687 NR_134932 HGNC:40368 -HGNC:6990 MECP2 methyl-CpG binding protein 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "RTT|MRX16|MRX79" "mental retardation, X-linked 16|mental retardation, X-linked 79|Rett syndrome|methyl CpG binding protein 2 (Rett syndrome)|methyl CpG binding protein 2" Methyl-CpG binding domain containing 1025 1996-09-03 2015-11-13 2023-01-20 4204 ENSG00000169057 OTTHUMG00000024229 uc004fjv.3 AF158180 NM_004992 "CCDS48193|CCDS14741" P51608 "1606614|10508514" MGI:99918 RGD:3075 "RettBASE|http://mecp2.chw.edu.au/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MECP2|LRG_764|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_764.xml" 300005 123186 HGNC:6990 "ENST00000453960.7|NM_001110792.2" HGNC:6990 -HGNC:19691 MECR mitochondrial trans-2-enoyl-CoA reductase protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "CGI-63|NRBF1|FASN2B|ETR1" "nuclear receptor binding factor 1|mitochondrial 2-enoyl thioester reductase" 2005-05-24 2023-01-20 51102 ENSG00000116353 OTTHUMG00000059082 uc001brq.3 NM_016011 "CCDS30659|CCDS30660" Q9BV79 "9795230|12654921" MGI:1349441 RGD:3208 608205 1.3.1.38 HGNC:19691 "ENST00000263702.11|NM_016011.5" HGNC:19691 +HGNC:6990 MECP2 methyl-CpG binding protein 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "RTT|MRX16|MRX79" "mental retardation, X-linked 16|mental retardation, X-linked 79|Rett syndrome|methyl CpG binding protein 2 (Rett syndrome)|methyl CpG binding protein 2" Methyl-CpG binding domain containing 1025 1996-09-03 2015-11-13 2023-01-20 4204 ENSG00000169057 OTTHUMG00000024229 uc004fjv.3 AF158180 NM_004992 "CCDS14741|CCDS48193" P51608 "1606614|10508514" MGI:99918 RGD:3075 "RettBASE|http://mecp2.chw.edu.au/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MECP2|LRG_764|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_764.xml" 300005 123186 HGNC:6990 "ENST00000453960.7|NM_001110792.2" HGNC:6990 +HGNC:19691 MECR mitochondrial trans-2-enoyl-CoA reductase protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "CGI-63|NRBF1|FASN2B|ETR1" "nuclear receptor binding factor 1|mitochondrial 2-enoyl thioester reductase" 2005-05-24 2023-01-20 51102 ENSG00000116353 OTTHUMG00000059082 uc001brq.3 NM_016011 "CCDS30660|CCDS30659" Q9BV79 "9795230|12654921" MGI:1349441 RGD:3208 608205 1.3.1.38 HGNC:19691 "ENST00000263702.11|NM_016011.5" HGNC:19691 HGNC:9234 MED1 mediator complex subunit 1 protein-coding gene gene with protein product Approved 17q12 17q12 "PBP|TRAP220|RB18A|DRIP230|CRSP200|CRSP1" "TRIP2|PPARGBP|PPARBP" PPAR binding protein Mediator complex 1061 1998-07-15 2007-07-30 2007-07-30 2023-01-20 5469 ENSG00000125686 OTTHUMG00000133216 uc002hrv.5 L40366 NM_004774 CCDS11336 Q15648 "9325263|10485914" MGI:1100846 RGD:1559552 604311 HGNC:9234 "ENST00000300651.11|NM_004774.4" -HGNC:17903 MED4 mediator complex subunit 4 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "HSPC126|DRIP36|TRAP36" VDRIP "vitamin D receptor interacting protein|mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)" Mediator complex 1061 2003-05-23 2004-11-09 2007-07-30 2023-01-20 29079 ENSG00000136146 OTTHUMG00000016891 uc001vby.3 AF161475 NM_014166 "CCDS59241|CCDS9408" Q9NPJ6 "10235266|11042152" MGI:1914631 RGD:1306671 605718 HGNC:17903 "ENST00000258648.7|NM_014166.4" +HGNC:17903 MED4 mediator complex subunit 4 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "HSPC126|DRIP36|TRAP36" VDRIP "vitamin D receptor interacting protein|mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)" Mediator complex 1061 2003-05-23 2004-11-09 2007-07-30 2023-01-20 29079 ENSG00000136146 OTTHUMG00000016891 uc001vby.3 AF161475 NM_014166 "CCDS9408|CCDS59241" Q9NPJ6 "10235266|11042152" MGI:1914631 RGD:1306671 605718 HGNC:17903 "ENST00000258648.7|NM_014166.4" HGNC:39213 MED4-AS1 MED4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 MED4-AS "MED4 antisense RNA (non-protein coding)|MED4 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-11-23 2010-11-25 2012-08-15 2012-10-12 100873965 ENSG00000229111 OTTHUMG00000016893 uc031qlm.2 NR_046511 MED4-AS1 HGNC:39213 -HGNC:19970 MED6 mediator complex subunit 6 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 NY-REN-28 mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae) Mediator complex 1061 2002-12-09 2007-07-30 2023-01-20 10001 ENSG00000133997 OTTHUMG00000171252 uc001xmf.5 BC004106 NM_005466 "CCDS61483|CCDS61484|CCDS9805|CCDS73649" O75586 "9234719|9671713" MGI:1917042 RGD:1310296 602984 HGNC:19970 "ENST00000256379.10|NM_005466.4" +HGNC:19970 MED6 mediator complex subunit 6 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 NY-REN-28 mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae) Mediator complex 1061 2002-12-09 2007-07-30 2023-01-20 10001 ENSG00000133997 OTTHUMG00000171252 uc001xmf.5 BC004106 NM_005466 "CCDS9805|CCDS61484|CCDS61483|CCDS73649" O75586 "9234719|9671713" MGI:1917042 RGD:1310296 602984 HGNC:19970 "ENST00000256379.10|NM_005466.4" HGNC:45164 MED6P1 mediator complex subunit 6 pseudogene 1 pseudogene pseudogene Approved 10q23.31 10q23.31 2013-02-28 2013-02-28 100128990 ENSG00000227905 OTTHUMG00000018689 NG_022151 PGOHUM00000238574 HGNC:45164 HGNC:2378 MED7 mediator complex subunit 7 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 CRSP33 CRSP9 cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa Mediator complex 1061 1999-07-21 2007-07-30 2007-07-30 2023-01-20 9443 ENSG00000155868 OTTHUMG00000130243 uc003lwm.5 AF104251 NM_004270 CCDS4334 O43513 9989412 MGI:1913463 RGD:6494481 605045 HGNC:2378 "ENST00000286317.6|NM_004270.5" HGNC:19971 MED8 mediator complex subunit 8 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "MGC17544|MGC19641|ARC32" mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae) Mediator complex 1061 2002-12-09 2007-07-30 2023-01-20 112950 ENSG00000159479 OTTHUMG00000007421 uc001cjg.6 "AF521562|BC010543" NM_052877 "CCDS486|CCDS487|CCDS60108" Q96G25 "12149480|9671713" MGI:1915269 RGD:1305552 607956 HGNC:19971 "ENST00000372457.9|NM_201542.5" @@ -18267,7 +18269,7 @@ HGNC:38733 MED13P1 mediator complex subunit 13 pseudogene 1 pseudogene pseudogen HGNC:2370 MED14 mediator complex subunit 14 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "EXLM1|CRSP150|TRAP170|RGR1|CSRP" "CXorf4|CRSP2" cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa Mediator complex 1061 1998-10-02 2007-07-30 2007-07-30 2023-01-20 9282 ENSG00000180182 OTTHUMG00000024107 uc004dex.5 AB006651 NM_004229 CCDS14254 O60244 "9989412|9598311" MGI:1349442 RGD:1560170 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MED14 300182 HGNC:2370 "ENST00000324817.6|NM_004229.4" HGNC:40162 MED14OS MED14 opposite strand protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 MED14-AS1 "MED14 antisense RNA 1 (non-protein coding)|MED14 antisense RNA 1" 2011-07-29 2014-02-10 2014-02-10 2017-01-27 100873985 ENSG00000234636 OTTHUMG00000024106 NM_001289773 P0DP75 HGNC:40162 HGNC:2371 MED14P1 mediator complex subunit 14 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 "CXorf4P|CRSP2P|MED14P" "cofactor required for Sp1 transcriptional activation, subunit 2, pseudogene|mediator complex subunit 14 pseudogene" 1999-05-17 2010-02-25 2010-02-25 2020-04-20 359791 ENSG00000233774 OTTHUMG00000036467 NG_002807 HGNC:2371 -HGNC:14248 MED15 mediator complex subunit 15 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "TIG-1|CAG7A|Arc105" "TNRC7|PCQAP" "trinucleotide repeat containing 7|PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein" Mediator complex 1061 2001-07-13 2007-07-30 2007-07-30 2023-01-20 51586 ENSG00000099917 OTTHUMG00000150810 uc002zsq.4 AF056191 NM_015889 "CCDS77653|CCDS13781|CCDS33602|CCDS74824" Q96RN5 "11024300|11414760|15175163" MGI:2137379 RGD:1307560 607372 HGNC:14248 "ENST00000263205.11|NM_001003891.3" +HGNC:14248 MED15 mediator complex subunit 15 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "TIG-1|CAG7A|Arc105" "TNRC7|PCQAP" "trinucleotide repeat containing 7|PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein" Mediator complex 1061 2001-07-13 2007-07-30 2007-07-30 2023-01-20 51586 ENSG00000099917 OTTHUMG00000150810 uc002zsq.4 AF056191 NM_015889 "CCDS33602|CCDS77653|CCDS74824|CCDS13781" Q96RN5 "11024300|11414760|15175163" MGI:2137379 RGD:1307560 607372 HGNC:14248 "ENST00000263205.11|NM_001003891.3" HGNC:19271 MED15P1 mediator complex subunit 15 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 "PCQAPP|MED15P" "PCQAP pseudogene|mediator complex subunit 15 pseudogene" 2003-01-13 2010-02-25 2010-02-25 2013-06-03 326615 ENSG00000257853 OTTHUMG00000170337 NG_002605 PGOHUM00000250102 HGNC:19271 HGNC:48652 MED15P3 mediator complex subunit 15 pseudogene 3 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-06-03 2013-06-03 106481657 ENSG00000226831 OTTHUMG00000153598 NG_045203 PGOHUM00000240325 HGNC:48652 HGNC:48653 MED15P4 mediator complex subunit 15 pseudogene 4 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-06-03 2013-06-03 100127989 ENSG00000224679 OTTHUMG00000153622 NG_023317 PGOHUM00000240331 HGNC:48653 @@ -18279,17 +18281,17 @@ HGNC:44130 MED15P9 mediator complex subunit 15 pseudogene 9 pseudogene pseudogen HGNC:17556 MED16 mediator complex subunit 16 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "DRIP92|TRAP95" THRAP5 thyroid hormone receptor associated protein 5 "WD repeat domain containing|Mediator complex" "362|1061" 2004-01-30 2007-07-30 2007-07-30 2023-01-20 10025 ENSG00000175221 OTTHUMG00000181841 uc002lqd.2 AF121228 NM_005481 CCDS12047 Q9Y2X0 "10235266|10198638" MGI:2158394 RGD:1308001 604062 HGNC:17556 "ENST00000325464.6|NM_005481.3" HGNC:2375 MED17 mediator complex subunit 17 protein-coding gene gene with protein product Approved 11q21 11q21 "CRSP77|TRAP80|DRIP80|SRB4" CRSP6 "cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)|cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa" Mediator complex 1061 1999-07-21 2007-07-30 2007-07-30 2023-01-20 9440 ENSG00000042429 OTTHUMG00000167497 uc001pem.5 AF104254 NM_004268 CCDS8295 Q9NVC6 "9989412|10198638" MGI:2182585 RGD:1311120 603810 407507 HGNC:2375 "ENST00000251871.9|NM_004268.5" HGNC:2375 HGNC:25944 MED18 mediator complex subunit 18 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "FLJ20045|p28b|SRB5" mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae) Mediator complex 1061 2004-11-09 2007-07-30 2023-01-20 54797 ENSG00000130772 OTTHUMG00000003537 uc001bpt.5 BC002694 NM_017638 CCDS322 Q9BUE0 15175163 MGI:1914469 RGD:1592757 612384 HGNC:25944 "ENST00000373842.9|NM_017638.3" -HGNC:29600 MED19 mediator complex subunit 19 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 LCMR1 mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae) Mediator complex 1061 2004-11-09 2007-07-30 2023-01-20 219541 ENSG00000156603 OTTHUMG00000167199 uc001nla.2 AY148462 NM_153450 "CCDS7966|CCDS86203" A0JLT2 9417904 MGI:1914234 RGD:1311926 612385 HGNC:29600 "ENST00000431606.5|NM_001317078.4" -HGNC:16840 MED20 mediator complex subunit 20 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "DKFZp586D2223|PRO0213|SRB2" TRFP Trf (TATA binding protein-related factor)-proximal homolog (Drosophila) Mediator complex 1061 2003-08-26 2007-07-30 2007-07-30 2023-01-20 9477 ENSG00000124641 OTTHUMG00000014689 uc003ork.4 AF097725 NM_004275 "CCDS4862|CCDS83085" Q9H944 "9933582|15175163" MGI:1929648 RGD:1306415 612915 470650 HGNC:16840 "ENST00000265350.9|NM_004275.5" +HGNC:29600 MED19 mediator complex subunit 19 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 LCMR1 mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae) Mediator complex 1061 2004-11-09 2007-07-30 2023-01-20 219541 ENSG00000156603 OTTHUMG00000167199 uc001nla.2 AY148462 NM_153450 "CCDS86203|CCDS7966" A0JLT2 9417904 MGI:1914234 RGD:1311926 612385 HGNC:29600 "ENST00000431606.5|NM_001317078.4" +HGNC:16840 MED20 mediator complex subunit 20 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "DKFZp586D2223|PRO0213|SRB2" TRFP Trf (TATA binding protein-related factor)-proximal homolog (Drosophila) Mediator complex 1061 2003-08-26 2007-07-30 2007-07-30 2023-01-20 9477 ENSG00000124641 OTTHUMG00000014689 uc003ork.4 AF097725 NM_004275 "CCDS83085|CCDS4862" Q9H944 "9933582|15175163" MGI:1929648 RGD:1306415 612915 470650 HGNC:16840 "ENST00000265350.9|NM_004275.5" HGNC:11473 MED21 mediator complex subunit 21 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 SRB7 SURB7 "SRB7 (suppressor of RNA polymerase B, yeast) homolog|SRB7 suppressor of RNA polymerase B homolog (yeast)" Mediator complex 1061 1999-03-10 2007-07-30 2007-07-30 2023-01-20 9412 ENSG00000152944 OTTHUMG00000169276 uc001rhp.3 U46837 NM_004264 CCDS8711 Q13503 8598913 MGI:1347064 RGD:1309836 603800 HGNC:11473 "ENST00000282892.4|NM_004264.5" HGNC:11477 MED22 mediator complex subunit 22 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "Med24|SRB6" SURF5 surfeit 5 Mediator complex 1061 1993-06-23 2007-07-30 2007-07-30 2023-01-20 6837 ENSG00000148297 OTTHUMG00000020869 uc064wue.1 NM_133640 "CCDS6964|CCDS6963" Q15528 "8499913|15175163" MGI:98446 RGD:1564893 185641 HGNC:11477 "ENST00000343730.10|NM_133640.5" -HGNC:2372 MED23 mediator complex subunit 23 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "CRSP130|DRIP130|Sur2" "CRSP3|MRT18" "cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa|mental retardation, non-syndromic, autosomal recessive, 18" Mediator complex 1061 1999-07-21 2007-07-30 2007-08-08 2023-01-20 9439 ENSG00000112282 OTTHUMG00000015565 uc003qcs.3 AF104255 NM_001270521 "CCDS59039|CCDS5147|CCDS5146" Q9ULK4 "9989412|30847200" MGI:1917458 RGD:1307671 605042 279764 HGNC:2372 "ENST00000368068.8|NM_004830.4" HGNC:2372 -HGNC:22963 MED24 mediator complex subunit 24 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "TRAP100|KIAA0130|DRIP100|CRSP100|MED5" "THRAP4|CRSP4" "thyroid hormone receptor associated protein 4|cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa" "Mediator complex|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1061|1691|1835" 2004-01-30 2007-07-30 2007-07-30 2023-01-20 9862 ENSG00000008838 OTTHUMG00000133329 uc002htt.4 AF055995 NM_014815 "CCDS11359|CCDS42315|CCDS82117" O75448 MGI:1344385 RGD:1564565 607000 HGNC:22963 "ENST00000394128.7|NM_014815.4" -HGNC:28845 MED25 mediator complex subunit 25 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "ARC92|ACID1|TCBAP0758|DKFZp434K0512" mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae) "Mediator complex|MicroRNA protein coding host genes" "1061|1691" 2004-11-09 2007-07-30 2023-01-20 81857 ENSG00000104973 OTTHUMG00000183161 uc002ppw.3 AL136746 NM_030973 "CCDS33075|CCDS92667" Q71SY5 "9110174|11230166" MGI:1922863 RGD:1305137 LRG_368|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_368.xml 610197 167742 HGNC:28845 "ENST00000312865.10|NM_030973.4" HGNC:28845 +HGNC:2372 MED23 mediator complex subunit 23 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "CRSP130|DRIP130|Sur2" "CRSP3|MRT18" "cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa|mental retardation, non-syndromic, autosomal recessive, 18" Mediator complex 1061 1999-07-21 2007-07-30 2007-08-08 2023-01-20 9439 ENSG00000112282 OTTHUMG00000015565 uc003qcs.3 AF104255 NM_001270521 "CCDS5146|CCDS5147|CCDS59039" Q9ULK4 "9989412|30847200" MGI:1917458 RGD:1307671 605042 279764 HGNC:2372 "ENST00000368068.8|NM_004830.4" HGNC:2372 +HGNC:22963 MED24 mediator complex subunit 24 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "TRAP100|KIAA0130|DRIP100|CRSP100|MED5" "THRAP4|CRSP4" "thyroid hormone receptor associated protein 4|cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa" "Mediator complex|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1061|1691|1835" 2004-01-30 2007-07-30 2007-07-30 2023-01-20 9862 ENSG00000008838 OTTHUMG00000133329 uc002htt.4 AF055995 NM_014815 "CCDS82117|CCDS42315|CCDS11359" O75448 MGI:1344385 RGD:1564565 607000 HGNC:22963 "ENST00000394128.7|NM_014815.4" +HGNC:28845 MED25 mediator complex subunit 25 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "ARC92|ACID1|TCBAP0758|DKFZp434K0512" mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae) "Mediator complex|MicroRNA protein coding host genes" "1061|1691" 2004-11-09 2007-07-30 2023-01-20 81857 ENSG00000104973 OTTHUMG00000183161 uc002ppw.3 AL136746 NM_030973 "CCDS92667|CCDS33075" Q71SY5 "9110174|11230166" MGI:1922863 RGD:1305137 LRG_368|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_368.xml 610197 167742 HGNC:28845 "ENST00000312865.10|NM_030973.4" HGNC:28845 HGNC:2376 MED26 mediator complex subunit 26 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 CRSP70 CRSP7 cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa Mediator complex 1061 1999-07-21 2007-07-30 2007-07-30 2023-01-20 9441 ENSG00000105085 OTTHUMG00000182433 uc002nen.2 AF104253 NM_004831 CCDS12347 O95402 9989412 MGI:1917875 RGD:1309524 605043 HGNC:2376 "ENST00000263390.8|NM_004831.5" -HGNC:2377 MED27 mediator complex subunit 27 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "TRAP37|CRSP34|MED3" CRSP8 cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa Mediator complex 1061 1999-07-21 2007-07-30 2007-07-30 2023-01-20 9442 ENSG00000160563 OTTHUMG00000020833 uc004cbe.3 AF104252 NM_004269 "CCDS69689|CCDS6945|CCDS59153" Q6P2C8 9989412 MGI:1916225 RGD:1564993 605044 HGNC:2377 "ENST00000292035.10|NM_004269.4" HGNC:2377 +HGNC:2377 MED27 mediator complex subunit 27 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "TRAP37|CRSP34|MED3" CRSP8 cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa Mediator complex 1061 1999-07-21 2007-07-30 2007-07-30 2023-01-20 9442 ENSG00000160563 OTTHUMG00000020833 uc004cbe.3 AF104252 NM_004269 "CCDS59153|CCDS6945|CCDS69689" Q6P2C8 9989412 MGI:1916225 RGD:1564993 605044 HGNC:2377 "ENST00000292035.10|NM_004269.4" HGNC:2377 HGNC:24628 MED28 mediator complex subunit 28 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "EG1|DKFZP434N185|magicin" mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae) Mediator complex 1061 2004-11-09 2007-07-30 2023-01-20 80306 ENSG00000118579 OTTHUMG00000161980 uc003gpk.2 AF317678 NM_025205 CCDS33963 Q9H204 "11779215|15467741" MGI:1914249 RGD:1305875 610311 HGNC:24628 "ENST00000237380.12|NM_025205.5" -HGNC:55567 MED28-DT MED28 divergent transcript non-coding RNA RNA, long non-coding Approved 4p15.32 04p15.32 "LAP3-AS1|AC006160.1" LAP3 antisense RNA 1 Divergent transcripts 1990 2021-04-14 2022-12-23 121232375 ENSG00000249502 35985476 +HGNC:55567 MED28-DT MED28 divergent transcript non-coding RNA RNA, long non-coding Approved 4p15.32 04p15.32 "LAP3-AS1|AC006160.1" LAP3 antisense RNA 1 Divergent transcripts 1990 2021-04-14 2022-12-23 121232375 ENSG00000249502 NR_186330 35985476 HGNC:45078 MED28P1 mediator complex subunit 28 pseudogene 1 pseudogene pseudogene Approved 10q22.1 10q22.1 2013-02-07 2013-06-06 100420207 ENSG00000214875 OTTHUMG00000018364 NG_025514 PGOHUM00000238829 HGNC:45078 HGNC:45079 MED28P2 mediator complex subunit 28 pseudogene 2 pseudogene pseudogene Approved 3q24 03q24 2013-02-07 2013-02-07 106480445 ENSG00000240511 OTTHUMG00000159549 NG_043416 PGOHUM00000237810 HGNC:45079 HGNC:45080 MED28P3 mediator complex subunit 28 pseudogene 3 pseudogene pseudogene Approved 2q32.1 02q32.1 2013-02-07 2013-02-07 100131051 ENSG00000227692 OTTHUMG00000154254 NG_021593 PGOHUM00000241040 HGNC:45080 @@ -18298,26 +18300,26 @@ HGNC:45082 MED28P5 mediator complex subunit 28 pseudogene 5 pseudogene pseudogen HGNC:45083 MED28P6 mediator complex subunit 28 pseudogene 6 pseudogene pseudogene Approved 15q25.3 15q25.3 2013-02-07 2013-02-07 106480808 ENSG00000259183 OTTHUMG00000171833 NG_029619 PGOHUM00000246918 HGNC:45083 HGNC:45084 MED28P7 mediator complex subunit 28 pseudogene 7 pseudogene pseudogene Approved 20p11.21 20p11.21 2013-02-07 2016-10-05 729327 ENSG00000236542 OTTHUMG00000032128 NG_021979 PGOHUM00000247476 HGNC:45084 HGNC:45085 MED28P8 mediator complex subunit 28 pseudogene 8 pseudogene pseudogene Approved 1p31.1 01p31.1 2013-02-07 2013-02-07 101060144 ENSG00000242598 OTTHUMG00000009841 PGOHUM00000251067 HGNC:45085 -HGNC:23074 MED29 mediator complex subunit 29 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "DKFZp434H247|MED2" IXL intersex-like (Drosophila) Mediator complex 1061 2004-07-15 2007-07-30 2007-07-30 2023-01-20 55588 ENSG00000063322 OTTHUMG00000182969 uc002olf.4 "AL137304|AY729650" NM_017592 "CCDS92614|CCDS33021" Q9NX70 15555573 MGI:1914474 RGD:1311009 612914 HGNC:23074 "ENST00000315588.11|NM_017592.4" -HGNC:23032 MED30 mediator complex subunit 30 protein-coding gene gene with protein product Approved 8q24.11 08q24.11 TRAP25 THRAP6 thyroid hormone receptor associated protein 6 Mediator complex 1061 2004-01-30 2007-07-30 2007-07-30 2023-01-20 90390 ENSG00000164758 OTTHUMG00000164920 uc003yoj.4 AY083305 NM_080651 "CCDS64959|CCDS6323" Q96HR3 MGI:1917040 RGD:1309369 610237 HGNC:23032 "ENST00000297347.7|NM_080651.4" +HGNC:23074 MED29 mediator complex subunit 29 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "DKFZp434H247|MED2" IXL intersex-like (Drosophila) Mediator complex 1061 2004-07-15 2007-07-30 2007-07-30 2023-01-20 55588 ENSG00000063322 OTTHUMG00000182969 uc002olf.4 "AL137304|AY729650" NM_017592 "CCDS33021|CCDS92614" Q9NX70 15555573 MGI:1914474 RGD:1311009 612914 HGNC:23074 "ENST00000315588.11|NM_017592.4" +HGNC:23032 MED30 mediator complex subunit 30 protein-coding gene gene with protein product Approved 8q24.11 08q24.11 TRAP25 THRAP6 thyroid hormone receptor associated protein 6 Mediator complex 1061 2004-01-30 2007-07-30 2007-07-30 2023-01-20 90390 ENSG00000164758 OTTHUMG00000164920 uc003yoj.4 AY083305 NM_080651 "CCDS6323|CCDS64959" Q96HR3 MGI:1917040 RGD:1309369 610237 HGNC:23032 "ENST00000297347.7|NM_080651.4" HGNC:24260 MED31 mediator complex subunit 31 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "CGI-125|Soh1" mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae) Mediator complex 1061 2004-11-24 2007-07-30 2023-01-20 51003 ENSG00000108590 OTTHUMG00000102051 uc002gdg.5 AF151883 NM_016060 CCDS11078 Q9Y3C7 10810093 MGI:1914529 RGD:1309457 HGNC:24260 "ENST00000225728.8|NM_016060.3" HGNC:25926 MEDAG mesenteric estrogen dependent adipogenesis protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "FLJ14834|AWMS3|MEDA-4" "mesenteric estrogen-dependent adipose 4|activated in W/Wv mouse stomach 3 homolog" C13orf33 "chromosome 13 open reading frame 33|mesenteric estrogen-dependent adipogenesis" 2006-08-08 2012-09-26 2016-04-05 2023-01-20 84935 ENSG00000102802 OTTHUMG00000016679 uc001uth.5 AB055407 NM_032849 CCDS9338 Q5VYS4 22510272 MGI:1917967 RGD:1307396 HGNC:25926 "ENST00000380482.9|NM_032849.4" -HGNC:6993 MEF2A myocyte enhancer factor 2A protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "RSRFC4|RSRFC9" "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2023-01-20 4205 ENSG00000068305 OTTHUMG00000171937 uc010bos.4 NM_001130926 "CCDS81920|CCDS92068|CCDS92067|CCDS45363|CCDS45362|CCDS58401|CCDS53978" Q02078 1516833 MGI:99532 RGD:1359360 600660 423048 HGNC:6993 "ENST00000557942.6|NM_001319206.4" +HGNC:6993 MEF2A myocyte enhancer factor 2A protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "RSRFC4|RSRFC9" "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2023-01-20 4205 ENSG00000068305 OTTHUMG00000171937 uc010bos.4 NM_001130926 "CCDS92067|CCDS92068|CCDS81920|CCDS58401|CCDS53978|CCDS45362|CCDS45363" Q02078 1516833 MGI:99532 RGD:1359360 600660 423048 HGNC:6993 "ENST00000557942.6|NM_001319206.4" HGNC:6994 MEF2AP1 myocyte enhancer factor 2A pseudogene 1 pseudogene pseudogene Approved 1q25.2 01q25.2 MEF2AP myocyte enhancer factor 2A pseudogene 1996-04-12 2010-02-25 2010-02-25 2016-10-05 4206 ENSG00000224620 OTTHUMG00000035267 U44888 NG_003072 HGNC:6994 HGNC:6995 MEF2B myocyte enhancer factor 2B protein-coding gene gene with protein product Approved 19p13.11 19p13.11 RSRFR2 "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2023-01-20 100271849 ENSG00000213999 OTTHUMG00000161595 uc002nlk.3 X63380 NM_005919 CCDS46024 Q02080 "1516833|8575763" MGI:104526 RGD:1561733 600661 HGNC:6995 "ENST00000424583.7|NM_001145785.2" -HGNC:6996 MEF2C myocyte enhancer factor 2C protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2023-01-20 4208 ENSG00000081189 OTTHUMG00000162634 uc003kjl.4 AL833268 NM_002397 "CCDS54877|CCDS47245|CCDS47244|CCDS78030|CCDS54878|CCDS93738|CCDS87313|CCDS93740|CCDS78034" Q06413 8455629 MGI:99458 RGD:1563119 600662 232232 HGNC:6996 "ENST00000504921.7|NM_002397.5" HGNC:6996 +HGNC:6996 MEF2C myocyte enhancer factor 2C protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2023-01-20 4208 ENSG00000081189 OTTHUMG00000162634 uc003kjl.4 AL833268 NM_002397 "CCDS87313|CCDS93740|CCDS47245|CCDS78030|CCDS47244|CCDS78034|CCDS93738|CCDS54878|CCDS54877" Q06413 8455629 MGI:99458 RGD:1563119 600662 232232 HGNC:6996 "ENST00000504921.7|NM_002397.5" HGNC:6996 HGNC:48908 MEF2C-AS1 MEF2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Antisense RNAs 1987 2013-07-01 2020-04-20 101929423 ENSG00000248309 OTTHUMG00000162630 CD702404 NR_104031 23801869 MEF2C-AS1 HGNC:48908 HGNC:53115 MEF2C-AS2 MEF2C antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 CTC-467M3.1 Antisense RNAs 1987 2017-02-10 2017-02-10 109729137 ENSG00000245864 OTTHUMG00000162629 NR_146284 28103885 HGNC:53115 -HGNC:6997 MEF2D myocyte enhancer factor 2D protein-coding gene gene with protein product Approved 1q22 01q22 "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2023-01-20 4209 ENSG00000116604 OTTHUMG00000033095 uc001fpc.5 BC054520 NM_005920 "CCDS1143|CCDS60304" Q14814 8269842 MGI:99533 RGD:621489 600663 HGNC:6997 "ENST00000348159.9|NM_005920.4" -HGNC:6998 MEFV MEFV innate immunity regulator, pyrin protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FMF|TRIM20" marenostrin MEF "Mediterranean fever|MEFV, pyrin innate immunity regulator" "Tripartite motif family|Pyrin domain containing" "59|994" 1989-10-30 2022-10-10 2023-01-20 4210 ENSG00000103313 OTTHUMG00000129324 uc002cun.1 AF018080 NM_000243 "CCDS55981|CCDS10498" O15553 "9288094|27066000" MGI:1859396 RGD:61889 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_190|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_190.xml" 608107 123191 HGNC:6998 "ENST00000219596.6|NM_000243.3" HGNC:6998 +HGNC:6997 MEF2D myocyte enhancer factor 2D protein-coding gene gene with protein product Approved 1q22 01q22 "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2023-01-20 4209 ENSG00000116604 OTTHUMG00000033095 uc001fpc.5 BC054520 NM_005920 "CCDS60304|CCDS1143" Q14814 8269842 MGI:99533 RGD:621489 600663 HGNC:6997 "ENST00000348159.9|NM_005920.4" +HGNC:6998 MEFV MEFV innate immunity regulator, pyrin protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FMF|TRIM20" marenostrin MEF "Mediterranean fever|MEFV, pyrin innate immunity regulator" "Tripartite motif family|Pyrin domain containing" "59|994" 1989-10-30 2022-10-10 2023-01-20 4210 ENSG00000103313 OTTHUMG00000129324 uc002cun.1 AF018080 NM_000243 "CCDS10498|CCDS55981" O15553 "9288094|27066000" MGI:1859396 RGD:61889 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_190|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_190.xml" 608107 123191 HGNC:6998 "ENST00000219596.6|NM_000243.3" HGNC:6998 HGNC:14575 MEG3 maternally expressed 3 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 "GTL2|NCRNA00023|LINC00023|onco-lncRNA-83" "non-protein coding RNA 23|long intergenic non-protein coding RNA 23|gene trap locus 2" "maternally expressed 3|maternally expressed 3 (non-protein coding)" "MicroRNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1992" 2001-02-08 2018-05-16 2022-04-21 55384 ENSG00000214548 OTTHUMG00000029052 uc059fga.1 AB032607 NR_002766 "10759892|23790166" MGI:1202886 RGD:1566401 LRG_1098|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1098.xml 605636 159158 MEG3 MEG3 HGNC:14575 HGNC:14574 MEG8 maternally expressed 8, small nucleolar RNA host gene non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 "NCRNA00024|Irm|Rian|Bsr|LINC00024|AL132709.8|lnc-MGC" "non-protein coding RNA 24|RNA Imprinted and Accumulated in Nucleus|Imprinted RNA near Meg3/Gtl2|long intergenic non-protein coding RNA 24|lncRNA microRNA megacluster host gene" "SNHG23|SNHG24" "maternally expressed (in Callipyge) 8|small nucleolar RNA host gene 23|small nucleolar RNA host gene 23 (non-protein coding)|small nucleolar RNA host gene 24|small nucleolar RNA host gene 24 (non-protein coding)|maternally expressed 8 (non-protein coding)" "MicroRNA non-coding host genes|Small nucleolar RNA non-coding host genes" "1688|1839" 2001-02-21 2017-02-17 2021-04-13 79104 ENSG00000225746 OTTHUMG00000029060 uc059fgr.1 "CA396130|AW026953" NR_024149 "11481034|11337479|12045206|27686049" MGI:1922995 LRG_1058|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1058.xml 613648 Rian MEG8 HGNC:14574 HGNC:43874 MEG9 maternally expressed 9 non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 LINC00584 long intergenic non-protein coding RNA 584 maternally expressed 9 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2012-04-01 2018-05-16 2018-08-23 100507257 ENSG00000223403 OTTHUMG00000029067 uc001yjz.3 "AK094562|AK021527" NR_047664 19194500 MEG9 MEG9 HGNC:43874 -HGNC:3232 MEGF6 multiple EGF like domains 6 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 EGFL3 "EGF-like-domain, multiple 3|multiple EGF-like-domains 6" MicroRNA protein coding host genes 1691 1998-03-25 2006-03-31 2016-01-21 2023-01-20 1953 ENSG00000162591 OTTHUMG00000000611 uc001akl.4 AB011539 NM_001409 "CCDS41237|CCDS90845" O75095 9693030 MGI:1919351 RGD:621188 604266 HGNC:3232 "ENST00000356575.9|NM_001409.4" +HGNC:3232 MEGF6 multiple EGF like domains 6 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 EGFL3 "EGF-like-domain, multiple 3|multiple EGF-like-domains 6" MicroRNA protein coding host genes 1691 1998-03-25 2006-03-31 2016-01-21 2023-01-20 1953 ENSG00000162591 OTTHUMG00000000611 uc001akl.4 AB011539 NM_001409 "CCDS90845|CCDS41237" O75095 9693030 MGI:1919351 RGD:621188 604266 HGNC:3232 "ENST00000356575.9|NM_001409.4" HGNC:3233 MEGF8 multiple EGF like domains 8 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "SBP1|FLJ22365" HBV pre s2 binding protein 1 "EGFL4|C19orf49" "EGF-like-domain, multiple 4|chromosome 19 open reading frame 49|multiple EGF-like-domains 8" MicroRNA protein coding host genes 1691 1998-03-25 2006-03-31 2016-01-21 2023-01-20 1954 ENSG00000105429 OTTHUMG00000150342 uc002otl.4 AB011541 NM_001410 "CCDS12604|CCDS62693" Q7Z7M0 9693030 MGI:2446294 RGD:621190 604267 318839 HGNC:3233 "ENST00000251268.11|NM_001271938.2" HGNC:3233 HGNC:3234 MEGF9 multiple EGF like domains 9 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 EGFL5 "EGF-like-domain, multiple 5|multiple EGF-like-domains 9" 1998-03-25 2006-03-31 2016-01-21 2023-01-20 1955 ENSG00000106780 OTTHUMG00000021039 uc022bms.2 AB011542 NM_001080497 CCDS48010 Q9H1U4 9693030 MGI:1918264 RGD:1308330 604268 HGNC:3234 "ENST00000373930.4|NM_001080497.3" HGNC:29634 MEGF10 multiple EGF like domains 10 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "KIAA1780|SR-F3" multiple EGF-like-domains 10 Scavenger receptors 1253 2006-03-31 2016-01-21 2023-01-20 84466 ENSG00000145794 OTTHUMG00000128984 uc003kui.5 AK021631 NM_032446 "CCDS78055|CCDS4142" Q96KG7 "11347906|27170117" MGI:2685177 RGD:735084 612453 292098 HGNC:29634 "ENST00000503335.7|NM_001256545.2" HGNC:29634 -HGNC:29635 MEGF11 multiple EGF like domains 11 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "KIAA1781|DKFZp434L121" multiple EGF-like-domains 11 2006-03-31 2016-01-21 2023-01-20 84465 ENSG00000157890 OTTHUMG00000133175 uc002apn.2 AB058677 NM_032445 "CCDS92027|CCDS10213|CCDS92026" A6BM72 11347906 MGI:1920951 RGD:1582797 612454 HGNC:29635 "ENST00000395614.6|NM_001385028.1" +HGNC:29635 MEGF11 multiple EGF like domains 11 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "KIAA1781|DKFZp434L121" multiple EGF-like-domains 11 2006-03-31 2016-01-21 2023-01-20 84465 ENSG00000157890 OTTHUMG00000133175 uc002apn.2 AB058677 NM_032445 "CCDS92027|CCDS92026|CCDS10213" A6BM72 11347906 MGI:1920951 RGD:1582797 612454 HGNC:29635 "ENST00000395614.6|NM_001385028.1" HGNC:28613 MEI1 meiotic double-stranded break formation protein 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "MGC40042|SPATA38" spermatogenesis associated 38 meiosis inhibitor 1 Armadillo like helical domain containing 1492 2007-10-04 2015-06-26 2023-01-20 150365 ENSG00000167077 OTTHUMG00000030083 uc003baz.2 AK092934 NM_152513 CCDS46718 Q5TIA1 "16683055|24710101" MGI:3028590 RGD:1307210 608797 HGNC:28613 "ENST00000401548.8|NM_152513.4" HGNC:28613 HGNC:43638 MEI4 meiotic double-stranded break formation protein 4 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 meiosis-specific 4 homolog (S. cerevisiae) 2012-08-26 2015-06-26 2023-01-20 101928601 ENSG00000269964 OTTHUMG00000153472 uc032xbm.2 NM_001282136 CCDS64463 A8MW99 "20551173|24710101" MGI:1922283 RGD:1583682 618417 HGNC:43638 "ENST00000684080.1|NM_001322247.2" HGNC:23429 MEIG1 meiosis/spermiogenesis associated 1 protein-coding gene gene with protein product Approved 10p13 10p13 "bA2K17.3|SPATA39" spermatogenesis associated 39 meiosis expressed gene 1 homolog (mouse) 2004-05-28 2013-08-05 2023-01-20 644890 ENSG00000197889 OTTHUMG00000017717 uc009xjk.1 NM_001080836 CCDS31151 Q5JSS6 23258628 MGI:1202878 RGD:1583655 614174 HGNC:23429 "ENST00000407572.6|NM_001080836.3" @@ -18328,12 +18330,12 @@ HGNC:44318 MEIOSIN meiosis initiator protein-coding gene gene with protein produ HGNC:7000 MEIS1 Meis homeobox 1 protein-coding gene gene with protein product Approved 2p14 02p14 "Meis1 (mouse) homolog|Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)" TALE class homeoboxes and pseudogenes 526 1996-12-17 2007-02-15 2023-01-20 4211 ENSG00000143995 OTTHUMG00000150714 uc002sdu.4 NM_002398 CCDS46309 O00470 7565694 MGI:104717 RGD:1585482 601739 8462 470652 HGNC:7000 "ENST00000272369.14|NM_002398.3" HGNC:40370 MEIS1-AS2 MEIS1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2p14 02p14 MEIS1-AS1 "MEIS1 antisense RNA 2 (non-protein coding)|MEIS1 antisense RNA 1|MEIS1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2012-01-23 2012-08-15 2014-11-19 100873998 ENSG00000230749 OTTHUMG00000152831 uc061jwi.1 NR_046625 MEIS1-AS2 HGNC:40370 HGNC:40369 MEIS1-AS3 MEIS1 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 2p14 02p14 MEIS1 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2014-11-19 730198 ENSG00000226819 OTTHUMG00000152832 uc031rof.2 "DA226783|DA702499" NR_046438 MEIS1-AS3 HGNC:40369 -HGNC:7001 MEIS2 Meis homeobox 2 protein-coding gene gene with protein product Approved 15q14 15q14 "MRG1|HsT18361" "Meis (mouse) homolog 2|Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)" "TALE class homeoboxes and pseudogenes|MicroRNA protein coding host genes" "526|1691" 1998-02-09 2007-02-15 2023-03-15 4212 ENSG00000134138 OTTHUMG00000129781 uc001zjo.5 AF017418 NM_170677 "CCDS45219|CCDS42014|CCDS10045|CCDS45217|CCDS10044|CCDS45218" O14770 9383298 MGI:108564 RGD:1305198 601740 8463 406645 HGNC:7001 "ENST00000561208.6|NM_170675.5" HGNC:7001 -HGNC:29537 MEIS3 Meis homeobox 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "MRG2|DKFZp547H236" Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse) TALE class homeoboxes and pseudogenes 526 2004-02-10 2007-02-15 2023-01-20 56917 ENSG00000105419 OTTHUMG00000172280 uc002pgt.5 BC025404 NM_020160 "CCDS46132|CCDS33064|CCDS74406" Q99687 8950991 MGI:108519 RGD:1308532 619443 8380 HGNC:29537 "ENST00000558555.6|NM_001301059.2" +HGNC:7001 MEIS2 Meis homeobox 2 protein-coding gene gene with protein product Approved 15q14 15q14 "MRG1|HsT18361" "Meis (mouse) homolog 2|Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)" "TALE class homeoboxes and pseudogenes|MicroRNA protein coding host genes" "526|1691" 1998-02-09 2007-02-15 2023-03-15 4212 ENSG00000134138 OTTHUMG00000129781 uc001zjo.5 AF017418 NM_170677 "CCDS45218|CCDS42014|CCDS10045|CCDS10044|CCDS45217|CCDS45219" O14770 9383298 MGI:108564 RGD:1305198 601740 8463 406645 HGNC:7001 "ENST00000561208.6|NM_170675.5" HGNC:7001 +HGNC:29537 MEIS3 Meis homeobox 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "MRG2|DKFZp547H236" Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse) TALE class homeoboxes and pseudogenes 526 2004-02-10 2007-02-15 2023-01-20 56917 ENSG00000105419 OTTHUMG00000172280 uc002pgt.5 BC025404 NM_020160 "CCDS74406|CCDS46132|CCDS33064" Q99687 8950991 MGI:108519 RGD:1308532 619443 8380 HGNC:29537 "ENST00000558555.6|NM_001301059.2" HGNC:7002 MEIS3P1 Meis homeobox 3 pseudogene 1 pseudogene pseudogene Approved 17p12 17p12 MRG2 "MEIS3|MEIS4" "Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)|Meis1, myeloid ecotropic viral integration site 1 homolog 4 (mouse)|Meis1 homolog 3 (mouse) pseudogene 1" TALE class homeoboxes and pseudogenes 526 1998-02-09 2005-12-23 2007-02-15 2011-06-20 4213 ENSG00000179277 OTTHUMG00000059145 U68385 NR_002211 A6NDR6 9049632 MGI:108519 8411 HGNC:7002 HGNC:17638 MEIS3P2 Meis homeobox 3 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 Meis1 homolog 3 (mouse) pseudogene 2 TALE class homeoboxes and pseudogenes 526 2005-12-23 2007-02-15 2017-10-30 257468 ENSG00000188013 OTTHUMG00000059559 NG_002418 A8K0S8 MGI:108519 8381 PGOHUM00000294324 HGNC:17638 -HGNC:16870 MELK maternal embryonic leucine zipper kinase protein-coding gene gene with protein product Approved 9p13.2 09p13.2 KIAA0175 MELK family kinases 2137 2003-02-04 2023-01-20 9833 ENSG00000165304 OTTHUMG00000019906 uc003zzn.5 D79997 NM_014791 "CCDS59127|CCDS59128|CCDS6606|CCDS59125|CCDS59126|CCDS59123|CCDS59124" Q14680 "8724849|9136115" MGI:106924 RGD:1308974 607025 objectId:2102 HGNC:16870 "ENST00000298048.7|NM_014791.4" -HGNC:7037 MELTF melanotransferrin protein-coding gene gene with protein product Approved 3q29 03q29 "CD228|FLJ38863|MAP97|MGC4856|MTF1|MTf" "melanotransferrin|membrane-bound transferrin-like protein" MFI2 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 "CD molecules|Transferrins" "471|908" 2001-06-22 2016-02-04 2016-02-04 2023-01-20 4241 ENSG00000163975 OTTHUMG00000155518 uc003fxk.5 NM_005929 "CCDS3326|CCDS3325" P08582 MGI:1353421 RGD:1308155 155750 CD228 HGNC:7037 "ENST00000296350.10|NM_005929.6" +HGNC:16870 MELK maternal embryonic leucine zipper kinase protein-coding gene gene with protein product Approved 9p13.2 09p13.2 KIAA0175 MELK family kinases 2137 2003-02-04 2023-01-20 9833 ENSG00000165304 OTTHUMG00000019906 uc003zzn.5 D79997 NM_014791 "CCDS59123|CCDS6606|CCDS59127|CCDS59128|CCDS59124|CCDS59126|CCDS59125" Q14680 "8724849|9136115" MGI:106924 RGD:1308974 607025 objectId:2102 HGNC:16870 "ENST00000298048.7|NM_014791.4" +HGNC:7037 MELTF melanotransferrin protein-coding gene gene with protein product Approved 3q29 03q29 "CD228|FLJ38863|MAP97|MGC4856|MTF1|MTf" "melanotransferrin|membrane-bound transferrin-like protein" MFI2 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 "CD molecules|Transferrins" "471|908" 2001-06-22 2016-02-04 2016-02-04 2023-01-20 4241 ENSG00000163975 OTTHUMG00000155518 uc003fxk.5 NM_005929 "CCDS3325|CCDS3326" P08582 MGI:1353421 RGD:1308155 155750 CD228 HGNC:7037 "ENST00000296350.10|NM_005929.6" HGNC:40373 MELTF-AS1 MELTF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 "AC068302.3|PLANE" Pan-cancer LncRNA Activating NCOR2 responsive to E2F1 MFI2-AS1 MFI2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2016-10-03 2016-10-03 2022-03-23 100507057 ENSG00000228109 OTTHUMG00000155519 uc062sdg.1 NR_038285 "27513470|34145290" HGNC:40373 HGNC:14014 MEMO1 mediator of cell motility 1 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "CGI-27|MEMO" C2orf4 chromosome 2 open reading frame 4 2000-11-28 2007-02-12 2007-02-12 2023-01-20 51072 ENSG00000162959 OTTHUMG00000128453 uc002rnx.4 AF132961 NM_015955 "CCDS1776|CCDS46255" Q9Y316 15156151 MGI:1924140 RGD:1309929 611786 HGNC:14014 "ENST00000404530.6|NM_001301833.4" HGNC:23274 MEMO1P1 MEMO1 pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 "MEMO1P|C21orf19" "mediator of cell motility 1 pseudogene|chromosome 21 open reading frame 19|mediator of cell motility 1 pseudogene 1" 2007-02-12 2010-02-25 2022-11-09 2022-11-09 728556 ENSG00000226054 OTTHUMG00000086608 DQ120661 NG_005842 HGNC:23274 @@ -18351,14 +18353,14 @@ HGNC:7017 MEP1AP2 meprin A subunit alpha pseudogene 2 pseudogene pseudogene Appr HGNC:39137 MEP1AP3 meprin A subunit alpha pseudogene 3 pseudogene pseudogene Approved 9q21.11 09q21.11 meprin A, alpha pseudogene 3 2010-10-20 2015-11-23 2016-11-11 389747 NG_006474 PGOHUM00000304297 HGNC:39137 HGNC:39138 MEP1AP4 meprin A subunit alpha pseudogene 4 pseudogene pseudogene Approved 9p11.1 09p11.1 meprin A, alpha pseudogene 4 2010-10-20 2015-11-23 2016-10-05 643157 ENSG00000224537 OTTHUMG00000013568 NG_006471 PGOHUM00000236527 HGNC:39138 HGNC:7020 MEP1B meprin A subunit beta protein-coding gene gene with protein product Approved 18q12.1 18q12.1 meprin A, beta Astacins 894 1994-07-19 2015-11-23 2023-01-20 4225 ENSG00000141434 OTTHUMG00000179708 uc002kxj.5 X81333 NM_005925 "CCDS77173|CCDS45846" Q16820 7774936 MGI:96964 RGD:3081 600389 M12.004 3.4.24.18 HGNC:7020 "ENST00000269202.11|NM_005925.3" -HGNC:20247 MEPCE methylphosphate capping enzyme protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ20257 BCDIN3 bin3, bicoid-interacting 3, homolog (Drosophila) "7SK snRNP complex|7BS DNA/RNA methyltransferases" "1676|2059" 2005-08-11 2007-07-26 2007-07-26 2023-01-20 56257 ENSG00000146834 OTTHUMG00000155255 uc003uuw.3 AF264752 NM_001194990 "CCDS55136|CCDS5693" Q7L2J0 "12358911|17643375" MGI:106477 RGD:1560550 611478 HGNC:20247 "ENST00000310512.4|NM_019606.6" -HGNC:13361 MEPE matrix extracellular phosphoglycoprotein protein-coding gene gene with protein product Approved 4q22.1 04q22.1 matrix, extracellular phosphoglycoprotein with ASARM motif (bone) SIBLING family 1279 2000-09-19 2008-08-29 2023-03-15 56955 ENSG00000152595 OTTHUMG00000130592 uc021xpu.2 AJ276396 NM_001184694 "CCDS77940|CCDS3625" Q9NQ76 10945470 MGI:2137384 RGD:71036 605912 HGNC:13361 "ENST00000361056.4|NM_020203.6" +HGNC:20247 MEPCE methylphosphate capping enzyme protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ20257 BCDIN3 bin3, bicoid-interacting 3, homolog (Drosophila) "7SK snRNP complex|7BS DNA/RNA methyltransferases" "1676|2059" 2005-08-11 2007-07-26 2007-07-26 2023-01-20 56257 ENSG00000146834 OTTHUMG00000155255 uc003uuw.3 AF264752 NM_001194990 "CCDS5693|CCDS55136" Q7L2J0 "12358911|17643375" MGI:106477 RGD:1560550 611478 HGNC:20247 "ENST00000310512.4|NM_019606.6" +HGNC:13361 MEPE matrix extracellular phosphoglycoprotein protein-coding gene gene with protein product Approved 4q22.1 04q22.1 matrix, extracellular phosphoglycoprotein with ASARM motif (bone) SIBLING family 1279 2000-09-19 2008-08-29 2023-03-15 56955 ENSG00000152595 OTTHUMG00000130592 uc021xpu.2 AJ276396 NM_001184694 "CCDS3625|CCDS77940" Q9NQ76 10945470 MGI:2137384 RGD:71036 605912 HGNC:13361 "ENST00000361056.4|NM_020203.6" HGNC:7027 MERTK MER proto-oncogene, tyrosine kinase protein-coding gene gene with protein product Approved 2q13 02q13 "mer|RP38|c-Eyk|Tyro12" c-mer proto-oncogene tyrosine kinase "Receptor tyrosine kinases|Fibronectin type III domain containing|I-set domain containing" "321|555|593" 1998-11-30 2014-06-26 2023-01-20 10461 ENSG00000153208 OTTHUMG00000131278 uc002thk.2 U08023 NM_006343 CCDS2094 Q12866 "8086340|10343112" MGI:96965 RGD:69283 Mutations of the MER Receptor Tyrosine Kinase Gene|http://www.retina-international.org/files/sci-news/mertkmut.htm 604705 123198 objectId:1837 HGNC:7027 "ENST00000295408.9|NM_006343.3" HGNC:7027 HGNC:13520 MESD mesoderm development LRP chaperone protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "KIAA0081|BOCA" MESDC2 mesoderm development candidate 2 2000-09-25 2017-05-16 2017-05-16 2023-01-20 23184 ENSG00000117899 OTTHUMG00000172288 uc059mkq.1 D42039 NM_015154 CCDS32308 Q14696 "7788527|11247670|15014448|12581525|24124512" MGI:1891421 RGD:1310344 607783 HGNC:13520 "ENST00000261758.6|NM_015154.3" HGNC:13520 HGNC:27324 MESDP1 MESD pseudogene 1 pseudogene pseudogene Approved 12q12 12q12 2023-05-04 2023-05-04 100128248 ENSG00000257368 NG_021714 PGOHUM00000291636 HGNC:29658 MESP1 mesoderm posterior bHLH transcription factor 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "MGC10676|bHLHc5" "mesoderm posterior 1 homolog (mouse)|mesoderm posterior basic helix-loop-helix transcription factor 1" Basic helix-loop-helix proteins 420 2005-10-21 2015-06-16 2023-01-20 55897 ENSG00000166823 OTTHUMG00000149810 uc002bol.4 NM_018670 CCDS10355 Q9BRJ9 "8787751|11578861" MGI:107785 RGD:1311751 608689 470654 HGNC:29658 "ENST00000300057.5|NM_018670.4" HGNC:29659 MESP2 mesoderm posterior bHLH transcription factor 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SCDO2|bHLHc6" "mesoderm posterior 2 homolog (mouse)|mesoderm posterior basic helix-loop-helix transcription factor 2" Basic helix-loop-helix proteins 420 2005-10-21 2015-06-16 2023-01-20 145873 ENSG00000188095 OTTHUMG00000172016 uc002bon.4 NM_001039958 CCDS42078 Q0VG99 11578861 MGI:1096325 RGD:1305959 LRG_1304|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1304.xml 605195 139173 HGNC:29659 "ENST00000341735.5|NM_001039958.2" HGNC:29659 -HGNC:7028 MEST mesoderm specific transcript protein-coding gene gene with protein product Approved 7q32.2 07q32.2 PEG1 Paternally-expressed gene 1 "mesoderm specific transcript (mouse) homolog|mesoderm specific transcript homolog (mouse)" MicroRNA protein coding host genes 1691 1996-04-17 2012-12-07 2023-01-20 4232 ENSG00000106484 OTTHUMG00000156661 uc003vqc.4 NM_002402 "CCDS59081|CCDS5823|CCDS5822" Q5EB52 "8884280|28501506|26119994" MGI:96968 RGD:1594589 LRG_1033|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1033.xml 601029 S33.972 HGNC:7028 "ENST00000223215.10|NM_002402.4" +HGNC:7028 MEST mesoderm specific transcript protein-coding gene gene with protein product Approved 7q32.2 07q32.2 PEG1 Paternally-expressed gene 1 "mesoderm specific transcript (mouse) homolog|mesoderm specific transcript homolog (mouse)" MicroRNA protein coding host genes 1691 1996-04-17 2012-12-07 2023-01-20 4232 ENSG00000106484 OTTHUMG00000156661 uc003vqc.4 NM_002402 "CCDS5823|CCDS59081|CCDS5822" Q5EB52 "8884280|28501506|26119994" MGI:96968 RGD:1594589 LRG_1033|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1033.xml 601029 S33.972 HGNC:7028 "ENST00000223215.10|NM_002402.4" HGNC:17991 MESTIT1 MEST intronic transcript 1, antisense RNA non-coding RNA RNA, long non-coding Approved 7q32.2 07q32.2 "NCRNA00040|MEST-AS1" "non-protein coding RNA 40|MEST antisense RNA 1 (non-protein coding)" MEST-IT1 MEST intronic transcript 1, antisense RNA (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2003-01-21 2011-07-07 2012-08-15 2021-04-13 317751 ENSG00000272701 OTTHUMG00000186331 uc003vqe.4 AF482998 NR_004382 12095916 LRG_1056|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1056.xml 607794 MESTIT1 HGNC:17991 HGNC:29660 MESTP1 mesoderm specific transcript pseudogene 1 pseudogene pseudogene Approved 6q22.33 06q22.33 mesoderm specific transcript homolog (mouse) pseudogene 1 2005-10-21 2012-12-07 2016-10-05 338470 ENSG00000220884 OTTHUMG00000015543 AL445439 NG_002694 PGOHUM00000243359 HGNC:29660 HGNC:18208 MESTP2 mesoderm specific transcript pseudogene 2 pseudogene pseudogene Approved 15q22.2 15q22.2 mesoderm specific transcript homolog (mouse) pseudogene 2 2010-06-17 2012-12-07 2014-11-19 100421572 ENSG00000259558 OTTHUMG00000172012 NG_025325 PGOHUM00000246809 HGNC:18208 @@ -18367,7 +18369,7 @@ HGNC:38554 MESTP4 mesoderm specific transcript pseudogene 4 pseudogene pseudogen HGNC:7029 MET MET proto-oncogene, receptor tyrosine kinase protein-coding gene gene with protein product Approved 7q31 07q31 "HGFR|RCCP2|DFNB97" hepatocyte growth factor receptor met proto-oncogene "Receptor tyrosine kinases|IPT domain containing" "321|1752" 1986-01-01 2014-06-26 2023-01-20 4233 ENSG00000105976 OTTHUMG00000023299 uc003vij.4 M35073 NM_000245 P08581 "1846706|1611909|25941349" MGI:96969 RGD:3082 LRG_662|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_662.xml MET 164860 123201 objectId:1815 2.7.10.1 HGNC:7029 "ENST00000397752.8|NM_000245.4" HGNC:7029 HGNC:15789 METAP1 methionyl aminopeptidase 1 protein-coding gene gene with protein product Approved 4q23 04q23 "KIAA0094|MetAP1A|MAP1A" Peptidase M "Aminopeptidases|M24 metallopeptidase family|MicroRNA protein coding host genes" "104|1442|1691" 2001-09-26 2023-01-20 23173 ENSG00000164024 OTTHUMG00000161231 uc003huf.5 D42084 NM_015143 CCDS47110 P53582 "7788527|12144506" MGI:1922874 RGD:1305545 610151 M24.017 objectId:1572 3.4.11.18 HGNC:15789 "ENST00000296411.11|NM_015143.3" HGNC:32583 METAP1D methionyl aminopeptidase type 1D, mitochondrial protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "MAP1D|Metap1l" methionine aminopeptidase 1D Aminopeptidases 104 2010-09-21 2016-08-11 2023-01-20 254042 ENSG00000172878 OTTHUMG00000132283 uc002uhk.4 "AY374142|BC029123" NM_199227 CCDS2246 Q6UB28 "14532271|16568094" MGI:1913809 RGD:1307413 610267 objectId:1574 HGNC:32583 "ENST00000315796.5|NM_199227.3" -HGNC:16672 METAP2 methionyl aminopeptidase 2 protein-coding gene gene with protein product Approved 12q22 12q22 "MNPEP|p67|MAP2" Peptidase M "Aminopeptidases|M24 metallopeptidase family" "104|1442" 2001-09-26 2023-01-20 10988 ENSG00000111142 OTTHUMG00000170280 uc001tec.4 U13261 NM_006838 "CCDS81725|CCDS81723|CCDS9052|CCDS81724" P50579 "7644482|8858118" MGI:1929701 RGD:70995 601870 M24.002 objectId:1573 3.4.11.18 HGNC:16672 "ENST00000323666.10|NM_006838.4" +HGNC:16672 METAP2 methionyl aminopeptidase 2 protein-coding gene gene with protein product Approved 12q22 12q22 "MNPEP|p67|MAP2" Peptidase M "Aminopeptidases|M24 metallopeptidase family" "104|1442" 2001-09-26 2023-01-20 10988 ENSG00000111142 OTTHUMG00000170280 uc001tec.4 U13261 NM_006838 "CCDS81724|CCDS9052|CCDS81723|CCDS81725" P50579 "7644482|8858118" MGI:1929701 RGD:70995 601870 M24.002 objectId:1573 3.4.11.18 HGNC:16672 "ENST00000323666.10|NM_006838.4" HGNC:54558 METAP2P1 METAP2 pseudogene 1 pseudogene pseudogene Approved 2q22.3 02q22.3 2019-10-16 2019-10-16 727713 ENSG00000234119 NG_005626 HGNC:14151 METRN meteorin, glial cell differentiation regulator protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC2601 C16orf23 chromosome 16 open reading frame 23 2000-12-21 2004-12-01 2004-11-26 2023-01-20 79006 ENSG00000103260 OTTHUMG00000047851 uc010bra.4 BC000662 NM_024042 CCDS10422 Q9UJH8 15085178 MGI:1917333 RGD:1306222 610998 HGNC:14151 "ENST00000568223.7|NM_024042.4" HGNC:27584 METRNL meteorin like, glial cell differentiation regulator protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "subfatin|cometin" 2004-12-01 2016-06-13 2023-01-20 284207 ENSG00000176845 OTTHUMG00000177771 uc002kgh.4 AK093748 NM_001004431 "CCDS32779|CCDS86656" Q641Q3 MGI:2384806 RGD:1359271 616241 HGNC:27584 "ENST00000320095.12|NM_001004431.3" @@ -18376,36 +18378,36 @@ HGNC:54907 METTL1P1 METTL1 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp HGNC:25755 METTL2A methyltransferase 2A, tRNA N3-cytidine protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "FLJ12760|METTL2" "methyltransferase like 2A|methyltransferase 2A, methylcytidine" 7BS DNA/RNA methyltransferases 2059 2006-02-09 2006-02-10 2023-05-23 2023-05-23 339175 ENSG00000087995 OTTHUMG00000164527 uc002izv.3 AK000991 NM_181725 CCDS45752 Q96IZ6 12477932 MGI:1289171 RGD:1310240 618902 HGNC:25755 "ENST00000311506.10|NM_181725.4" HGNC:18272 METTL2B methyltransferase 2B, tRNA N3-cytidine protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "METL|FLJ11350" METTL2 "methyltransferase like 2|methyltransferase like 2B|methyltransferase 2B, methylcytidine" 7BS DNA/RNA methyltransferases 2059 2003-01-29 2006-02-09 2023-05-23 2023-05-23 55798 ENSG00000165055 OTTHUMG00000143738 uc003vnf.3 AK002212 NM_018396 CCDS5803 Q6P1Q9 11738826 MGI:1289171 607846 HGNC:18272 "ENST00000262432.13|NM_018396.3" HGNC:17563 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "Spo8|M6A|MT-A70" "N6-adenosine-methyltransferase 70 kDa subunit|mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase" methyltransferase like 3 "m6A methyltransferase complex|7BS N6-adenosine DNA/RNA methyltransferases" "1419|2061" 2003-01-14 2021-05-17 2023-01-20 56339 ENSG00000165819 OTTHUMG00000168825 uc001wbc.4 AF014837 NM_019852 CCDS32044 Q86U44 24316715 MGI:1927165 RGD:1311750 612472 objectId:3181 2.1.1.62 HGNC:17563 "ENST00000298717.9|NM_019852.5" -HGNC:24726 METTL4 methyltransferase 4, N6-adenosine protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "FLJ23017|HsT661" methyltransferase like 4 7BS N6-adenosine DNA/RNA methyltransferases 2061 2004-01-08 2021-05-17 2023-01-20 64863 ENSG00000101574 OTTHUMG00000131482 uc002klh.5 NM_022840 "CCDS77144|CCDS11826" Q8N3J2 "30982744|31913360" MGI:1924031 RGD:1306451 619626 HGNC:24726 "ENST00000574538.2|NM_022840.5" +HGNC:24726 METTL4 methyltransferase 4, N6-adenosine protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "FLJ23017|HsT661" methyltransferase like 4 7BS N6-adenosine DNA/RNA methyltransferases 2061 2004-01-08 2021-05-17 2023-01-20 64863 ENSG00000101574 OTTHUMG00000131482 uc002klh.5 NM_022840 "CCDS11826|CCDS77144" Q8N3J2 "30982744|31913360" MGI:1924031 RGD:1306451 619626 HGNC:24726 "ENST00000574538.2|NM_022840.5" HGNC:25006 METTL5 methyltransferase 5, N6-adenosine protein-coding gene gene with protein product Approved 2q31.1 02q31.1 HSPC133 methyltransferase like 5 7BS N6-adenosine DNA/RNA methyltransferases 2061 2005-04-14 2021-05-17 2023-01-20 29081 ENSG00000138382 OTTHUMG00000154117 uc002ufp.4 AF201938 NM_014168 CCDS33320 Q9NRN9 11042152 MGI:1922672 RGD:1566062 618628 HGNC:25006 "ENST00000260953.10|NM_014168.4" HGNC:25006 HGNC:56501 METTL5P1 METTL5 pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 2022-10-20 2022-10-20 100131950 ENSG00000258587 NG_022861 PGOHUM00000292728 HGNC:56502 METTL5P2 METTL5 pseudogene 2 pseudogene pseudogene Approved 3q21.3 03q21.3 2022-10-20 2022-10-20 100419878 ENSG00000248557 NG_025739 PGOHUM00000299577 HGNC:56503 METTL5P3 METTL5 pseudogene 3 pseudogene pseudogene Approved 4q12 04q12 2022-10-20 2022-10-20 100128865 ENSG00000250812 NG_022056 PGOHUM00000300211 HGNC:56504 METTL5P4 METTL5 pseudogene 4 pseudogene pseudogene Approved 11q22.3 11q22.3 2022-10-20 2022-10-20 127379692 ENSG00000255483 NG_115693 PGOHUM00000290689 -HGNC:28343 METTL6 methyltransferase 6, tRNA N3-cytidine protein-coding gene gene with protein product Approved 3p25.1 03p25.1 MGC24132 "methyltransferase like 6|methyltransferase 6, methylcytidine|methyltransferase 6, RNA N3-cytidine" 7BS DNA/RNA methyltransferases 2059 2005-11-02 2023-05-23 2023-05-23 131965 ENSG00000206562 OTTHUMG00000156431 uc062hcc.1 AK057791 NM_152396 "CCDS43056|CCDS87051|CCDS77706" Q8TCB7 26888608 MGI:1914261 RGD:1359565 618903 HGNC:28343 "ENST00000383790.8|NM_152396.4" -HGNC:25856 METTL8 methyltransferase 8, tRNA N3-cytidine protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "FLJ13984|TIP" tension-induced/inhibited protein "methyltransferase like 8|methyltransferase 8, methylcytidine" 7BS DNA/RNA methyltransferases 2059 2006-05-10 2023-05-23 2023-05-23 79828 ENSG00000123600 OTTHUMG00000132261 uc032ojq.2 AK024046 NM_024770 "CCDS82531|CCDS2242|CCDS82532" Q9H825 "15992539|28655767" MGI:2385142 RGD:1561059 609525 HGNC:25856 "ENST00000375258.9|NM_001321154.2" +HGNC:28343 METTL6 methyltransferase 6, tRNA N3-cytidine protein-coding gene gene with protein product Approved 3p25.1 03p25.1 MGC24132 "methyltransferase like 6|methyltransferase 6, methylcytidine|methyltransferase 6, RNA N3-cytidine" 7BS DNA/RNA methyltransferases 2059 2005-11-02 2023-05-23 2023-05-23 131965 ENSG00000206562 OTTHUMG00000156431 uc062hcc.1 AK057791 NM_152396 "CCDS87051|CCDS77706|CCDS43056" Q8TCB7 26888608 MGI:1914261 RGD:1359565 618903 HGNC:28343 "ENST00000383790.8|NM_152396.4" +HGNC:25856 METTL8 methyltransferase 8, tRNA N3-cytidine protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "FLJ13984|TIP" tension-induced/inhibited protein "methyltransferase like 8|methyltransferase 8, methylcytidine" 7BS DNA/RNA methyltransferases 2059 2006-05-10 2023-05-23 2023-05-23 79828 ENSG00000123600 OTTHUMG00000132261 uc032ojq.2 AK024046 NM_024770 "CCDS2242|CCDS82532|CCDS82531" Q9H825 "15992539|28655767" MGI:2385142 RGD:1561059 609525 HGNC:25856 "ENST00000375258.9|NM_001321154.2" HGNC:49856 METTL8P1 methyltransferase like 8 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 2014-03-18 2014-03-18 728996 ENSG00000256283 OTTHUMG00000168748 NG_007062 PGOHUM00000239359 HGNC:49856 -HGNC:24586 METTL9 methyltransferase 9, His-X-His N1(pi)-histidine protein-coding gene gene with protein product Approved 16p12.2 16p12.2 DREV1 DORA reverse strand protein 1 "methyltransferase like 9|methyltransferase 9, His-X-His N1-histidine" 7BS protein methyltransferases 2058 2006-07-11 2023-05-23 2023-05-23 51108 ENSG00000197006 OTTHUMG00000131584 uc002dje.4 AF151839 NM_016025 "CCDS10598|CCDS45440" Q9H1A3 "10810093|11132146|33563959" MGI:1914862 RGD:2311609 609388 HGNC:24586 "ENST00000358154.8|NM_016025.5" -HGNC:24248 METTL13 methyltransferase 13, eEF1A N-terminus and K55 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "CGI-01|FEAT" faint expression in normal tissues, aberrant overexpression in tumors "KIAA0859|DFNM1|EEF1AKNMT" "KIAA0859|methyltransferase like 13|deafness (recessive, non-syndromic) modifier 1|eEF1A lysine and N-terminal methyltransferase|methyltransferase 13, eEF1A lysine and N-terminal methyltransferase" 7BS protein lysine methyltransferases 2056 2004-11-10 2021-05-17 2023-05-23 2023-05-23 51603 ENSG00000010165 OTTHUMG00000034912 uc001ghz.4 AF132936 NM_014955 "CCDS1299|CCDS30936|CCDS1300" Q8N6R0 "10810093|10048485|29408807|30143613" MGI:1918699 RGD:1311526 617987 HGNC:24248 "ENST00000361735.4|NM_015935.5" +HGNC:24586 METTL9 methyltransferase 9, His-X-His N1(pi)-histidine protein-coding gene gene with protein product Approved 16p12.2 16p12.2 DREV1 DORA reverse strand protein 1 "methyltransferase like 9|methyltransferase 9, His-X-His N1-histidine" 7BS protein methyltransferases 2058 2006-07-11 2023-05-23 2023-05-23 51108 ENSG00000197006 OTTHUMG00000131584 uc002dje.4 AF151839 NM_016025 "CCDS45440|CCDS10598" Q9H1A3 "10810093|11132146|33563959" MGI:1914862 RGD:2311609 609388 HGNC:24586 "ENST00000358154.8|NM_016025.5" +HGNC:24248 METTL13 methyltransferase 13, eEF1A N-terminus and K55 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "CGI-01|FEAT" faint expression in normal tissues, aberrant overexpression in tumors "KIAA0859|DFNM1|EEF1AKNMT" "KIAA0859|methyltransferase like 13|deafness (recessive, non-syndromic) modifier 1|eEF1A lysine and N-terminal methyltransferase|methyltransferase 13, eEF1A lysine and N-terminal methyltransferase" 7BS protein lysine methyltransferases 2056 2004-11-10 2021-05-17 2023-05-23 2023-05-23 51603 ENSG00000010165 OTTHUMG00000034912 uc001ghz.4 AF132936 NM_014955 "CCDS30936|CCDS1299|CCDS1300" Q8N6R0 "10810093|10048485|29408807|30143613" MGI:1918699 RGD:1311526 617987 HGNC:24248 "ENST00000361735.4|NM_015935.5" HGNC:29330 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit protein-coding gene gene with protein product Approved 4q26 04q26 KIAA1627 methyltransferase like 14 "m6A methyltransferase complex|7BS N6-adenosine DNA/RNA methyltransferases" "1419|2061" 2009-02-24 2021-05-17 2023-01-20 57721 ENSG00000145388 OTTHUMG00000161167 uc003icf.4 AB046847 NM_020961 CCDS34053 Q9HCE5 "10997877|24316715" MGI:2442926 RGD:1304822 616504 2.1.1.62 HGNC:29330 "ENST00000388822.10|NM_020961.4" HGNC:53367 METTL14-DT METTL14 divergent transcript non-coding RNA RNA, long non-coding Approved 4q26 04q26 Divergent transcripts 1990 2018-09-28 2018-09-28 101929741 ENSG00000281731 OTTHUMG00000189712 NR_125930 HGNC:53367 -HGNC:26606 METTL15 methyltransferase 15, mitochondrial 12S rRNA N4-cytidine protein-coding gene gene with protein product Approved 11p14.1 11p14.1 FLJ33979 METT5D1 "methyltransferase 5 domain containing 1|methyltransferase like 15" 7BS DNA/RNA methyltransferases 2059 2005-03-01 2011-03-02 2023-04-21 2023-04-21 196074 ENSG00000169519 OTTHUMG00000150448 uc001msh.3 AL832668 NM_152636 "CCDS73269|CCDS44559|CCDS31450" A6NJ78 "31665743|32371392|32573735" MGI:1924144 RGD:1304978 618711 HGNC:26606 "ENST00000407364.8|NM_001113528.2" +HGNC:26606 METTL15 methyltransferase 15, mitochondrial 12S rRNA N4-cytidine protein-coding gene gene with protein product Approved 11p14.1 11p14.1 FLJ33979 METT5D1 "methyltransferase 5 domain containing 1|methyltransferase like 15" 7BS DNA/RNA methyltransferases 2059 2005-03-01 2011-03-02 2023-04-21 2023-04-21 196074 ENSG00000169519 OTTHUMG00000150448 uc001msh.3 AL832668 NM_152636 "CCDS31450|CCDS44559|CCDS73269" A6NJ78 "31665743|32371392|32573735" MGI:1924144 RGD:1304978 618711 HGNC:26606 "ENST00000407364.8|NM_001113528.2" HGNC:31926 METTL15P1 methyltransferase like 15 pseudogene 1 pseudogene pseudogene Approved 3q25.31 03q25.31 METT5D2 methyltransferase 5 domain containing 2 2005-03-01 2011-03-02 2011-03-02 2020-04-20 100130758 ENSG00000174912 OTTHUMG00000158645 NG_011761 P0C7V9 MGI:1924144 PGOHUM00000250267 HGNC:31926 HGNC:39559 METTL15P2 methyltransferase like 15 pseudogene 2 pseudogene pseudogene Approved 12q14.1 12q14.1 2011-03-02 2011-03-02 644915 NG_021691 PGOHUM00000239484 HGNC:39559 HGNC:39558 METTL15P3 methyltransferase like 15 pseudogene 3 pseudogene pseudogene Approved Xp22.11 Xp22.11 2011-03-02 2011-03-02 729650 ENSG00000224396 OTTHUMG00000021243 NG_022648 PGOHUM00000241663 HGNC:39558 HGNC:28484 METTL16 methyltransferase 16, RNA N6-adenosine protein-coding gene gene with protein product Approved 17p13.3 17p13.3 MGC3329 "U6 snRNA methyltransferase|N6-methyladenosine methyltransferase" METT10D "methyltransferase 10 domain containing|methyltransferase like 16|methyltransferase 16, N6-methyladenosine" 7BS N6-adenosine DNA/RNA methyltransferases 2061 2005-12-19 2011-03-02 2023-05-23 2023-05-23 79066 ENSG00000127804 OTTHUMG00000177564 uc002fut.4 AK027410 NM_024086 CCDS42232 Q86W50 "18021804|28525753|29051200" MGI:1914743 RGD:1593242 HGNC:28484 "ENST00000263092.11|NM_024086.4" HGNC:19280 METTL17 methyltransferase like 17 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ20859 METT11D1 methyltransferase 11 domain containing 1 7BS orphan methyltransferases 2066 2006-05-19 2011-03-02 2011-03-02 2023-01-20 64745 ENSG00000165792 OTTHUMG00000029610 uc001vyn.4 AK024512 NM_022734 "CCDS9562|CCDS41913" Q9H7H0 "11278769|26488768" MGI:1098577 RGD:1559895 616091 HGNC:19280 "ENST00000339374.11|NM_022734.3" HGNC:28793 METTL18 methyltransferase 18, RPL3 N3(tau)-histidine protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "MGC9084|AsTP2|HPM1" histidine protein methyltransferase 1 C1orf156 "chromosome 1 open reading frame 156|methyltransferase like 18|methyltransferase 18, RPL3 N3-histidine" 7BS protein methyltransferases 2058 2005-07-14 2011-03-02 2023-05-23 2023-05-23 92342 ENSG00000171806 OTTHUMG00000035813 uc001ggn.6 AL035369 NM_033418 CCDS1284 O95568 "20864530|33693809" MGI:1917212 RGD:1306783 615255 HGNC:28793 "ENST00000310392.5|NM_033418.4" -HGNC:30476 METTL21A methyltransferase 21A, HSPA lysine protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "LOC151194|HCA557b|HSPA-KMT" "Hepatocellular carcinoma-associated antigen 557b|heat shock protein 70kDa lysine (K) methyltransferase" FAM119A "family with sequence similarity 119, member A|methyltransferase like 21A" 7BS protein lysine methyltransferases 2056 2006-05-15 2011-03-03 2021-05-21 2023-01-20 151194 ENSG00000144401 OTTHUMG00000132934 uc010fuk.1 "AK093812|AF455817" NM_145280 "CCDS77514|CCDS82562|CCDS2376|CCDS82563" Q8WXB1 23921388 MGI:1914349 RGD:7651604 615257 HGNC:30476 "ENST00000411432.6|NM_001127395.5" +HGNC:30476 METTL21A methyltransferase 21A, HSPA lysine protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "LOC151194|HCA557b|HSPA-KMT" "Hepatocellular carcinoma-associated antigen 557b|heat shock protein 70kDa lysine (K) methyltransferase" FAM119A "family with sequence similarity 119, member A|methyltransferase like 21A" 7BS protein lysine methyltransferases 2056 2006-05-15 2011-03-03 2021-05-21 2023-01-20 151194 ENSG00000144401 OTTHUMG00000132934 uc010fuk.1 "AK093812|AF455817" NM_145280 "CCDS2376|CCDS82562|CCDS77514|CCDS82563" Q8WXB1 23921388 MGI:1914349 RGD:7651604 615257 HGNC:30476 "ENST00000411432.6|NM_001127395.5" HGNC:41921 METTL21AP1 methyltransferase like 21A pseudogene 1 pseudogene pseudogene Approved 21q22.2 21q22.2 2011-05-18 2011-05-18 100421629 ENSG00000229623 OTTHUMG00000066177 NG_025044 PGOHUM00000239085 HGNC:41921 HGNC:33717 METTL21C methyltransferase 21C, AARS1 lysine protein-coding gene gene with protein product Approved 13q33.1 13q33.1 LOC196541 C13orf39 "chromosome 13 open reading frame 39|methyltransferase like 21C" 7BS protein lysine methyltransferases 2056 2008-07-11 2011-03-03 2021-05-17 2023-01-20 196541 ENSG00000139780 OTTHUMG00000017304 uc001vpj.5 NM_001010977 CCDS32003 Q5VZV1 32611769 MGI:3611450 RGD:1561425 615259 HGNC:33717 "ENST00000267273.7|NM_001010977.3" HGNC:41948 METTL21EP methyltransferase like 21E, pseudogene pseudogene pseudogene Approved 13q33.1 13q33.1 METTL21CP1 methyltransferase like 21C pseudogene 1 2011-08-15 2012-11-09 2012-11-09 2012-11-09 121952 ENSG00000250878 OTTHUMG00000017312 NR_026965 A6NDL7 MGI:2685837 RGD:2320407 PGOHUM00000248678 HGNC:41948 HGNC:28368 METTL22 methyltransferase 22, Kin17 lysine protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "FLJ12433|MGC2654" C16orf68 "chromosome 16 open reading frame 68|methyltransferase like 22" 7BS protein lysine methyltransferases 2056 2006-04-06 2011-03-03 2021-05-21 2023-01-20 79091 ENSG00000067365 OTTHUMG00000129694 uc002czb.4 AK022495 NM_024109 CCDS10533 Q9BUU2 24140279 MGI:2384301 RGD:1311433 615261 HGNC:28368 "ENST00000381920.8|NM_024109.4" -HGNC:26988 METTL23 methyltransferase 23, arginine protein-coding gene gene with protein product Approved 17q25.2 17q25.2 LOC124512 C17orf95 "chromosome 17 open reading frame 95|methyltransferase like 23" 7BS protein arginine methyltranferases 2057 2008-07-11 2011-03-03 2023-04-21 2023-04-21 124512 ENSG00000181038 OTTHUMG00000180371 uc002jsr.4 NM_001080510 "CCDS59298|CCDS45787" Q86XA0 24501276 MGI:1921569 RGD:1306284 615262 405470 HGNC:26988 "ENST00000341249.11|NM_001080510.5" HGNC:26988 +HGNC:26988 METTL23 methyltransferase 23, arginine protein-coding gene gene with protein product Approved 17q25.2 17q25.2 LOC124512 C17orf95 "chromosome 17 open reading frame 95|methyltransferase like 23" 7BS protein arginine methyltranferases 2057 2008-07-11 2011-03-03 2023-04-21 2023-04-21 124512 ENSG00000181038 OTTHUMG00000180371 uc002jsr.4 NM_001080510 "CCDS45787|CCDS59298" Q86XA0 24501276 MGI:1921569 RGD:1306284 615262 405470 HGNC:26988 "ENST00000341249.11|NM_001080510.5" HGNC:26988 HGNC:21566 METTL24 methyltransferase like 24 protein-coding gene gene with protein product Approved 6q21 06q21 dJ71D21.2 C6orf186 chromosome 6 open reading frame 186 7BS orphan methyltransferases 2066 2003-11-26 2012-02-21 2012-02-21 2023-01-20 728464 ENSG00000053328 OTTHUMG00000015359 uc010kdu.2 NM_001123364 CCDS43489 Q5JXM2 MGI:3045338 RGD:1564857 HGNC:21566 "ENST00000338882.5|NM_001123364.3" HGNC:26228 METTL25 methyltransferase like 25 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 FLJ22789 C12orf26 chromosome 12 open reading frame 26 7BS orphan methyltransferases 2066 2006-01-06 2012-08-13 2012-08-13 2023-01-20 84190 ENSG00000127720 OTTHUMG00000170252 uc001szq.4 BC029120 NM_032230 CCDS9024 Q8N6Q8 MGI:3041259 RGD:1310270 HGNC:26228 "ENST00000248306.8|NM_032230.3" -HGNC:24273 METTL25B methyltransferase like 25B protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CGI-41 "C1orf66|RRNAD1" "chromosome 1 open reading frame 66|ribosomal RNA adenine dimethylase domain containing 1" 7BS orphan methyltransferases 2066 2005-05-17 2021-03-08 2021-03-08 2023-01-20 51093 ENSG00000143303 OTTHUMG00000041302 uc001fpu.4 BC011382 NM_015997 "CCDS44246|CCDS1154" Q96FB5 "10810093|310876" MGI:2387197 RGD:1311265 HGNC:24273 "ENST00000368216.9|NM_015997.4" -HGNC:14141 METTL26 methyltransferase like 26 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC13114 C16orf13 chromosome 16 open reading frame 13 7BS orphan methyltransferases 2066 2000-12-21 2016-06-15 2016-06-15 2023-01-20 84326 ENSG00000130731 OTTHUMG00000047855 uc002chv.3 NM_001040160 "CCDS42091|CCDS45367|CCDS32352|CCDS45368|CCDS42090|CCDS73798" Q96S19 MGI:1915597 RGD:1307155 HGNC:14141 "ENST00000301686.13|NM_032366.5" +HGNC:24273 METTL25B methyltransferase like 25B protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CGI-41 "C1orf66|RRNAD1" "chromosome 1 open reading frame 66|ribosomal RNA adenine dimethylase domain containing 1" 7BS orphan methyltransferases 2066 2005-05-17 2021-03-08 2021-03-08 2023-01-20 51093 ENSG00000143303 OTTHUMG00000041302 uc001fpu.4 BC011382 NM_015997 "CCDS1154|CCDS44246" Q96FB5 "10810093|310876" MGI:2387197 RGD:1311265 HGNC:24273 "ENST00000368216.9|NM_015997.4" +HGNC:14141 METTL26 methyltransferase like 26 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC13114 C16orf13 chromosome 16 open reading frame 13 7BS orphan methyltransferases 2066 2000-12-21 2016-06-15 2016-06-15 2023-01-20 84326 ENSG00000130731 OTTHUMG00000047855 uc002chv.3 NM_001040160 "CCDS42091|CCDS45368|CCDS32352|CCDS73798|CCDS45367|CCDS42090" Q96S19 MGI:1915597 RGD:1307155 HGNC:14141 "ENST00000301686.13|NM_032366.5" HGNC:19068 METTL27 methyltransferase like 27 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 WBSCR27 Williams Beuren syndrome chromosome region 27 7BS orphan methyltransferases 2066 2004-07-05 2017-03-20 2017-03-20 2023-01-20 155368 ENSG00000165171 OTTHUMG00000130033 uc003tzj.3 AF534110 NM_152559 CCDS5561 Q8N6F8 10329018 MGI:1933146 RGD:1588881 612546 HGNC:19068 "ENST00000297873.9|NM_152559.3" HGNC:33482 MEX3A mex-3 RNA binding family member A protein-coding gene gene with protein product Approved 1q22 01q22 RNF162 RKHD4 "ring finger and KH domain containing 4|mex-3 homolog A (C. elegans)" Ring finger proteins 58 2007-06-12 2007-07-18 2013-08-21 2023-01-20 92312 ENSG00000254726 OTTHUMG00000017465 uc001fnd.4 AK024097 NM_001093725 CCDS53377 A1L020 17267406 MGI:1919890 RGD:1564904 611007 HGNC:33482 "ENST00000532414.3|NM_001093725.2" HGNC:25297 MEX3B mex-3 RNA binding family member B protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "DKFZp434J0617|RNF195" RKHD3 "ring finger and KH domain containing 3|mex-3 homolog B (C. elegans)" Ring finger proteins 58 2004-05-24 2007-07-18 2013-08-21 2023-01-20 84206 ENSG00000183496 OTTHUMG00000147356 uc002bgq.3 AK131424 NM_032246 CCDS10319 Q6ZN04 "11230166|17267406" MGI:1918252 RGD:1306790 611008 HGNC:25297 "ENST00000329713.5|NM_032246.6" @@ -18414,25 +18416,25 @@ HGNC:16734 MEX3D mex-3 RNA binding family member D protein-coding gene gene with HGNC:7032 MFAP1 microfibril associated protein 1 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 AMP microfibrillar associated protein 1 Spliceosomal B complex 1507 1994-06-17 2017-05-16 2023-01-20 4236 ENSG00000140259 OTTHUMG00000060145 uc001zth.2 NM_005926 CCDS10105 P55081 "7835894|28335716" "MGI:1914782|MGI:3694697" RGD:1562232 600215 HGNC:7032 "ENST00000267812.4|NM_005926.3" HGNC:39694 MFAP1P1 microfibril associated protein 1 pseudogene 1 pseudogene pseudogene Approved 13q12.3 13q12.3 2011-03-23 2017-05-16 2017-05-16 646755 ENSG00000232489 OTTHUMG00000016673 NG_011532 PGOHUM00000248352 HGNC:39694 HGNC:7033 MFAP2 microfibril associated protein 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "MAGP|MAGP-1" microfibril-associated glycoprotein-1 microfibrillar associated protein 2 1994-07-22 2017-05-16 2023-01-20 4237 ENSG00000117122 OTTHUMG00000002290 uc057csz.1 BC015039 NM_002403 "CCDS44071|CCDS174" P55001 7759096 MGI:99559 RGD:1306031 156790 HGNC:7033 "ENST00000375535.4|NM_002403.4" -HGNC:7034 MFAP3 microfibril associated protein 3 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 microfibrillar associated protein 3 I-set domain containing 593 1994-07-22 2017-05-16 2023-01-20 4238 ENSG00000037749 OTTHUMG00000130149 uc003lvf.3 NM_005927 "CCDS47319|CCDS4324" P55082 7782085 MGI:1924068 RGD:1359463 600491 HGNC:7034 "ENST00000522782.6|NM_005927.5" -HGNC:29083 MFAP3L microfibril associated protein 3 like protein-coding gene gene with protein product Approved 4q33 04q33 "KIAA0626|NYD-sp9" microfibrillar associated protein 3 like I-set domain containing 593 2004-06-25 2017-05-16 2023-01-20 9848 ENSG00000198948 OTTHUMG00000160942 uc003isp.5 AB014526 NM_021647 "CCDS34103|CCDS43281" O75121 9734811 MGI:1918556 RGD:1311274 616523 HGNC:29083 "ENST00000361618.4|NM_021647.8" -HGNC:7035 MFAP4 microfibril associated protein 4 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 microfibril-associated glycoprotein 4 microfibrillar associated protein 4 Fibrinogen C domain containing 554 1994-11-17 2017-05-16 2023-01-20 4239 ENSG00000166482 OTTHUMG00000059585 uc002gvt.4 L38486 NM_002404 "CCDS56023|CCDS11208" P55083 7633408 MGI:1342276 RGD:1307841 600596 HGNC:7035 "ENST00000299610.5|NM_002404.3" -HGNC:29673 MFAP5 microfibril associated protein 5 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "MAGP2|MP25" microfibril-associated glycoprotein-2 microfibrillar associated protein 5 2004-04-05 2017-05-16 2023-01-20 8076 ENSG00000197614 OTTHUMG00000168703 uc001qut.2 AK124368 NM_003480 "CCDS76523|CCDS8595|CCDS76522|CCDS76524|CCDS73437" Q13361 "9792630|8557636" MGI:1354387 RGD:1307919 601103 420468 HGNC:29673 "ENST00000359478.7|NM_003480.4" HGNC:29673 -HGNC:24858 MFF mitochondrial fission factor protein-coding gene gene with protein product Approved 2q36.3 02q36.3 GL004 C2orf33 chromosome 2 open reading frame 33 2004-06-28 2008-05-29 2008-05-29 2023-01-20 56947 ENSG00000168958 OTTHUMG00000133180 uc002vot.5 AF258660 NM_020194 "CCDS74662|CCDS63141|CCDS63142|CCDS63140|CCDS2465|CCDS63139" Q9GZY8 18353969 MGI:1922984 RGD:1310230 614785 470656 HGNC:24858 "ENST00000304593.14|NM_001277062.2" HGNC:24858 +HGNC:7034 MFAP3 microfibril associated protein 3 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 microfibrillar associated protein 3 I-set domain containing 593 1994-07-22 2017-05-16 2023-01-20 4238 ENSG00000037749 OTTHUMG00000130149 uc003lvf.3 NM_005927 "CCDS4324|CCDS47319" P55082 7782085 MGI:1924068 RGD:1359463 600491 HGNC:7034 "ENST00000522782.6|NM_005927.5" +HGNC:29083 MFAP3L microfibril associated protein 3 like protein-coding gene gene with protein product Approved 4q33 04q33 "KIAA0626|NYD-sp9" microfibrillar associated protein 3 like I-set domain containing 593 2004-06-25 2017-05-16 2023-01-20 9848 ENSG00000198948 OTTHUMG00000160942 uc003isp.5 AB014526 NM_021647 "CCDS43281|CCDS34103" O75121 9734811 MGI:1918556 RGD:1311274 616523 HGNC:29083 "ENST00000361618.4|NM_021647.8" +HGNC:7035 MFAP4 microfibril associated protein 4 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 microfibril-associated glycoprotein 4 microfibrillar associated protein 4 Fibrinogen C domain containing 554 1994-11-17 2017-05-16 2023-01-20 4239 ENSG00000166482 OTTHUMG00000059585 uc002gvt.4 L38486 NM_002404 "CCDS11208|CCDS56023" P55083 7633408 MGI:1342276 RGD:1307841 600596 HGNC:7035 "ENST00000299610.5|NM_002404.3" +HGNC:29673 MFAP5 microfibril associated protein 5 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "MAGP2|MP25" microfibril-associated glycoprotein-2 microfibrillar associated protein 5 2004-04-05 2017-05-16 2023-01-20 8076 ENSG00000197614 OTTHUMG00000168703 uc001qut.2 AK124368 NM_003480 "CCDS73437|CCDS76522|CCDS76524|CCDS8595|CCDS76523" Q13361 "9792630|8557636" MGI:1354387 RGD:1307919 601103 420468 HGNC:29673 "ENST00000359478.7|NM_003480.4" HGNC:29673 +HGNC:24858 MFF mitochondrial fission factor protein-coding gene gene with protein product Approved 2q36.3 02q36.3 GL004 C2orf33 chromosome 2 open reading frame 33 2004-06-28 2008-05-29 2008-05-29 2023-01-20 56947 ENSG00000168958 OTTHUMG00000133180 uc002vot.5 AF258660 NM_020194 "CCDS63139|CCDS63142|CCDS74662|CCDS2465|CCDS63140|CCDS63141" Q9GZY8 18353969 MGI:1922984 RGD:1310230 614785 470656 HGNC:24858 "ENST00000304593.14|NM_001277062.2" HGNC:24858 HGNC:41067 MFF-DT MFF divergent transcript non-coding RNA RNA, long non-coding Approved 2q36.3 02q36.3 Divergent transcripts 1990 2019-08-16 2019-08-16 654841 ENSG00000236432 OTTHUMG00000149890 NR_102371 HGNC:41067 HGNC:54537 MFFP1 MFF pseudogene 1 pseudogene pseudogene Approved 1p36.21 01p36.21 2019-10-11 2019-10-11 100420251 ENSG00000215720 NG_026912 HGNC:54537 HGNC:54540 MFFP2 MFF pseudogene 2 pseudogene pseudogene Approved 5q32 05q32 2019-10-11 2019-10-11 644762 ENSG00000251583 NR_110534 HGNC:54540 HGNC:54944 MFFP3 MFF pseudogene 3 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-04-30 2020-04-30 392452 ENSG00000204915 NR_102268 -HGNC:7036 MFGE8 milk fat globule EGF and factor V/VIII domain containing protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SED1|EDIL1|BA46|OAcGD3S|HsT19888|MFG-E8|hP47" "sperm surface protein hP47|lactadherin" SPAG10 "sperm associated antigen 10|milk fat globule-EGF factor 8 protein" 1996-10-31 2019-12-20 2023-01-20 4240 ENSG00000140545 OTTHUMG00000148682 uc002bng.5 U58516 NM_005928 "CCDS92058|CCDS92057|CCDS10347|CCDS81918|CCDS45345" Q08431 "9027496|19204935" MGI:102768 RGD:3083 602281 HGNC:7036 "ENST00000268150.13|NM_005928.4" +HGNC:7036 MFGE8 milk fat globule EGF and factor V/VIII domain containing protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SED1|EDIL1|BA46|OAcGD3S|HsT19888|MFG-E8|hP47" "sperm surface protein hP47|lactadherin" SPAG10 "sperm associated antigen 10|milk fat globule-EGF factor 8 protein" 1996-10-31 2019-12-20 2023-01-20 4240 ENSG00000140545 OTTHUMG00000148682 uc002bng.5 U58516 NM_005928 "CCDS10347|CCDS45345|CCDS81918|CCDS92057|CCDS92058" Q08431 "9027496|19204935" MGI:102768 RGD:3083 602281 HGNC:7036 "ENST00000268150.13|NM_005928.4" HGNC:16982 MFHAS1 multifunctional ROCO family signaling regulator 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "MASL1|LRRC65" "leucine rich repeat containing 65|malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1" malignant fibrous histiocytoma amplified sequence 1 ROCO family 1421 2001-12-03 2021-05-27 2023-01-20 9258 ENSG00000147324 OTTHUMG00000163676 uc003wsj.2 AB016816 NM_004225 CCDS34844 Q9Y4C4 "9973190|24286120" MGI:1098644 RGD:1308812 605352 HGNC:16982 "ENST00000276282.7|NM_004225.3" HGNC:18262 MFN1 mitofusin 1 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 FLJ20693 2003-02-25 2023-03-15 55669 ENSG00000171109 OTTHUMG00000157385 uc003fjs.4 AF054986 NM_017927 CCDS3228 Q8IWA4 "8358434|11181170" MGI:1914664 RGD:621460 608506 470658 objectId:3130 HGNC:18262 "ENST00000471841.6|NM_033540.3" HGNC:55050 MFN1P1 MFN1 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 441511 ENSG00000233874 NG_028800 HGNC:16877 MFN2 mitofusin 2 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "CPRP1|KIAA0214|MARF|CMT2A2" 2003-02-25 2023-01-20 9927 ENSG00000116688 OTTHUMG00000002392 uc009vni.4 AF036536 NM_014874 CCDS30587 O95140 "12499352|11181170" MGI:2442230 RGD:628843 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_255|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_255.xml" 608507 123207 objectId:3131 HGNC:16877 "ENST00000235329.10|NM_014874.4" HGNC:16877 HGNC:7038 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "manic fringe (Drosophila) homolog|manic fringe homolog (Drosophila)" Beta 3-glycosyltransferases 426 1997-11-07 2006-11-13 2023-01-20 4242 ENSG00000100060 OTTHUMG00000150560 uc003ass.3 BC094814 NM_002405 "CCDS54525|CCDS13947" O00587 "9878264|9187150" MGI:1095404 RGD:735126 602577 2.4.1.222 HGNC:7038 "ENST00000356998.8|NM_002405.4" HGNC:18121 MFRP membrane frizzled-related protein protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "FLJ30570|rd6|NNO2|C1QTNF5" "membrane-type frizzled-related protein|C1q and TNF related 5" 2002-02-25 2023-01-20 83552 ENSG00000235718 OTTHUMG00000166199 uc001pwj.4 AB055505 NM_031433 CCDS8421 Q9BY79 11263980 MGI:2385957 RGD:1307477 606227 123212 HGNC:18121 "ENST00000619721.6|NM_031433.4" HGNC:18121 -HGNC:25874 MFSD1 major facilitator superfamily domain containing 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "FLJ14153|UG0581B09|Minerva" 2005-01-24 2023-01-20 64747 ENSG00000118855 OTTHUMG00000158835 uc003fcl.3 BC017661 NM_022736 "CCDS54666|CCDS3185" Q9H3U5 "30910009|31661432" MGI:1914118 RGD:1305751 619976 HGNC:25874 "ENST00000415822.8|NM_022736.4" +HGNC:25874 MFSD1 major facilitator superfamily domain containing 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "FLJ14153|UG0581B09|Minerva" 2005-01-24 2023-01-20 64747 ENSG00000118855 OTTHUMG00000158835 uc003fcl.3 BC017661 NM_022736 "CCDS3185|CCDS54666" Q9H3U5 "30910009|31661432" MGI:1914118 RGD:1305751 619976 HGNC:25874 "ENST00000415822.8|NM_022736.4" HGNC:50625 MFSD1P1 major facilitator superfamily domain containing 1 pseudogene 1 pseudogene pseudogene Approved 17p13.2 17p13.2 2014-05-30 2014-05-30 100313532 ENSG00000261868 OTTHUMG00000177730 NG_015881 PGOHUM00000237202 HGNC:50625 -HGNC:25897 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FLJ14490|SLC59A1" "sodium-dependent lysophosphatidylcholine symporter 1|sodium-dependent LPC symporter 1" MFSD2 "major facilitator superfamily domain containing 2|major facilitator superfamily domain containing 2A" Solute carrier family 59 2208 2005-07-18 2009-09-08 2022-10-12 2023-03-14 84879 ENSG00000168389 OTTHUMG00000009293 uc001ceu.5 AK093223 NM_032793 "CCDS446|CCDS44118|CCDS72762" Q8NA29 "18694395|24828040|24828044|26945070" MGI:1923824 RGD:1310174 614397 SLC59A1 435518 objectId:3041 HGNC:25897 "ENST00000372811.10|NM_032793.5" HGNC:25897 +HGNC:25897 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FLJ14490|SLC59A1" "sodium-dependent lysophosphatidylcholine symporter 1|sodium-dependent LPC symporter 1" MFSD2 "major facilitator superfamily domain containing 2|major facilitator superfamily domain containing 2A" Solute carrier family 59 2208 2005-07-18 2009-09-08 2022-10-12 2023-03-14 84879 ENSG00000168389 OTTHUMG00000009293 uc001ceu.5 AK093223 NM_032793 "CCDS446|CCDS72762|CCDS44118" Q8NA29 "18694395|24828040|24828044|26945070" MGI:1923824 RGD:1310174 614397 SLC59A1 435518 objectId:3041 HGNC:25897 "ENST00000372811.10|NM_032793.5" HGNC:25897 HGNC:37207 MFSD2B MFSD2 lysolipid transporter B, sphingolipid protein-coding gene gene with protein product Approved 2p23.3 02p23.3 SLC59A2 "S1P transporter|sphingosine 1-phosphate transporter" major facilitator superfamily domain containing 2B Solute carrier family 59 2208 2009-09-08 2022-10-12 2023-03-15 388931 ENSG00000205639 OTTHUMG00000090819 uc032ngs.2 NM_001080473 CCDS86824 A6NFX1 "18694395|29563527" MGI:3583946 RGD:1561716 617845 SLC59A2 objectId:3042 HGNC:37207 "ENST00000338315.6|NM_001346880.2" HGNC:25157 MFSD3 major facilitator superfamily domain containing 3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 SLC33A2 solute carrier family 33 member 2 Solute carrier family 33 2184 2005-08-16 2023-03-15 113655 ENSG00000167700 OTTHUMG00000165177 uc003zdi.2 NM_138431 CCDS6431 Q96ES6 27981419 MGI:1916822 RGD:1560274 620308 SLC33A2 HGNC:25157 "ENST00000301327.5|NM_138431.3" HGNC:25433 MFSD4A major facilitator superfamily domain containing 4A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZp761N1114|FLJ34577|UNQ3064|FLJ25004|SLC60A1" MFSD4 major facilitator superfamily domain containing 4 Solute carrier family 60 2209 2005-11-17 2016-01-05 2016-01-05 2023-03-14 148808 ENSG00000174514 OTTHUMG00000037197 uc001hcv.5 BC036549 NM_181644 CCDS1455 Q8N468 MGI:2442786 RGD:1566090 620299 SLC60A1 objectId:3043 HGNC:25433 "ENST00000367147.9|NM_181644.5" @@ -18440,13 +18442,13 @@ HGNC:27632 MFSD4A-AS1 MFSD4A antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:21053 MFSD4B major facilitator superfamily domain containing 4B protein-coding gene gene with protein product Approved 6q21 06q21 "MGC33953|SLC60A2" KIAA1919 KIAA1919 Solute carrier family 60 2209 2003-11-21 2016-01-05 2016-01-05 2023-03-14 91749 ENSG00000173214 OTTHUMG00000015372 uc003puv.5 BC036115 NM_153369 CCDS5090 Q5TF39 "MGI:1919295|MGI:2143575|MGI:2446139|MGI:3035041|MGI:3773841" RGD:1304770 617331 SLC60A2 objectId:3044 HGNC:21053 "ENST00000671876.2|NM_153369.4" HGNC:55773 MFSD4B-DT MFSD4B divergent transcript non-coding RNA RNA, long non-coding Approved 6q21 06q21 Divergent transcripts 1990 2021-07-22 2021-07-22 107986521 ENSG00000231046 XR_001743806 HGNC:50626 MFSD4BP1 major facilitator superfamily domain containing 4B pseudogene 1 pseudogene pseudogene Approved 5q11.2 05q11.2 2016-01-05 2016-01-05 100128154 ENSG00000250827 OTTHUMG00000162166 NG_021848 PGOHUM00000235220 HGNC:50626 -HGNC:28156 MFSD5 major facilitator superfamily domain containing 5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MGC11308|HsMOT2|SLC61A1" Solute carrier family 61 2210 2006-01-06 2023-03-14 84975 ENSG00000182544 OTTHUMG00000170028 uc001sci.3 AK097576 NM_032889 "CCDS8851|CCDS53796" Q6N075 21464289 MGI:2145901 RGD:1305138 620345 SLC61A1 objectId:3045 HGNC:28156 "ENST00000329548.5|NM_032889.5" +HGNC:28156 MFSD5 major facilitator superfamily domain containing 5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MGC11308|HsMOT2|SLC61A1" Solute carrier family 61 2210 2006-01-06 2023-03-14 84975 ENSG00000182544 OTTHUMG00000170028 uc001sci.3 AK097576 NM_032889 "CCDS53796|CCDS8851" Q6N075 21464289 MGI:2145901 RGD:1305138 620345 SLC61A1 objectId:3045 HGNC:28156 "ENST00000329548.5|NM_032889.5" HGNC:24711 MFSD6 major facilitator superfamily domain containing 6 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 FLJ20160 2008-10-29 2023-01-20 54842 ENSG00000151690 OTTHUMG00000132671 uc002urz.2 NM_001375986 CCDS2306 Q6ZSS7 MGI:1922925 RGD:1562317 613476 HGNC:24711 "ENST00000392328.6|NM_017694.4" HGNC:26656 MFSD6L major facilitator superfamily domain containing 6 like protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ35773 major facilitator superfamily domain containing 6-like 2008-10-29 2016-03-30 2023-01-20 162387 ENSG00000185156 OTTHUMG00000178584 uc002glp.3 AK093092 NM_152599 CCDS11146 Q8IWD5 MGI:2384904 RGD:1307767 HGNC:26656 "ENST00000329805.6|NM_152599.4" -HGNC:28486 MFSD8 major facilitator superfamily domain containing 8 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 MGC33302 CLN7 ceroid-lipofuscinosis, neuronal 7, late infantile, variant 2007-02-19 2023-01-20 256471 ENSG00000164073 OTTHUMG00000133303 uc003ifp.4 AK074564 NM_152778 "CCDS93623|CCDS93628|CCDS93622|CCDS93626|CCDS87259|CCDS3736|CCDS93627|CCDS87255" Q8NHS3 17564970 MGI:1919425 RGD:1310132 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_833|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_833.xml" 611124 159521 HGNC:28486 "ENST00000641686.2|NM_001371596.2" HGNC:28486 +HGNC:28486 MFSD8 major facilitator superfamily domain containing 8 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 MGC33302 CLN7 ceroid-lipofuscinosis, neuronal 7, late infantile, variant 2007-02-19 2023-01-20 256471 ENSG00000164073 OTTHUMG00000133303 uc003ifp.4 AK074564 NM_152778 "CCDS93626|CCDS87255|CCDS93623|CCDS93622|CCDS3736|CCDS93627|CCDS93628|CCDS87259" Q8NHS3 17564970 MGI:1919425 RGD:1310132 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_833|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_833.xml" 611124 159521 HGNC:28486 "ENST00000641686.2|NM_001371596.2" HGNC:28486 HGNC:28158 MFSD9 major facilitator superfamily domain containing 9 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 MGC11332 2007-01-12 2023-01-20 84804 ENSG00000135953 OTTHUMG00000130781 uc002tcb.3 NM_032718 CCDS2063 Q8NBP5 MGI:2443548 RGD:1562212 620301 HGNC:28158 "ENST00000258436.10|NM_032718.5" -HGNC:16894 MFSD10 major facilitator superfamily domain containing 10 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "TETRAN|IT10C3" tetracycline transporter like protein 2008-03-03 2023-01-20 10227 ENSG00000109736 OTTHUMG00000122081 uc003gfz.4 L11669 NM_001120 "CCDS93471|CCDS3365|CCDS87203" Q14728 "8353488|17362938" MGI:1915544 RGD:1311900 610977 HGNC:16894 "ENST00000355443.9|NM_001146069.2" -HGNC:25458 MFSD11 major facilitator superfamily domain containing 11 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ22196|FLJ20226" 2007-01-25 2023-01-20 79157 ENSG00000092931 OTTHUMG00000180484 uc060kmz.1 BC002753 NM_024311 "CCDS11750|CCDS56045" O43934 "9358160|27272503|34821824" MGI:1917150 RGD:1307394 620346 HGNC:25458 "ENST00000685175.1|NM_001242532.5" +HGNC:16894 MFSD10 major facilitator superfamily domain containing 10 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "TETRAN|IT10C3" tetracycline transporter like protein 2008-03-03 2023-01-20 10227 ENSG00000109736 OTTHUMG00000122081 uc003gfz.4 L11669 NM_001120 "CCDS3365|CCDS87203|CCDS93471" Q14728 "8353488|17362938" MGI:1915544 RGD:1311900 610977 HGNC:16894 "ENST00000355443.9|NM_001146069.2" +HGNC:25458 MFSD11 major facilitator superfamily domain containing 11 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ22196|FLJ20226" 2007-01-25 2023-01-20 79157 ENSG00000092931 OTTHUMG00000180484 uc060kmz.1 BC002753 NM_024311 "CCDS56045|CCDS11750" O43934 "9358160|27272503|34821824" MGI:1917150 RGD:1307394 620346 HGNC:25458 "ENST00000685175.1|NM_001242532.5" HGNC:28299 MFSD12 major facilitator superfamily domain containing 12 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC20700|PP3501" C19orf28 chromosome 19 open reading frame 28 2004-03-24 2011-11-24 2011-11-24 2023-03-15 126321 ENSG00000161091 OTTHUMG00000180766 uc002lxz.5 AF218008 NM_174983 "CCDS42465|CCDS74256" Q6NUT3 33208952 MGI:3604804 RGD:1307722 617745 HGNC:28299 "ENST00000355415.7|NM_174983.5" HGNC:56727 MFSD12-AS1 MFSD12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Antisense RNAs 1987 2023-01-26 2023-01-26 128385373 ENSG00000267436 HGNC:26196 MFSD13A major facilitator superfamily domain containing 13A protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "FLJ22529|bA18I14.8" "C10orf77|TMEM180" transmembrane protein 180 2004-04-23 2015-10-26 2015-10-26 2023-01-20 79847 ENSG00000138111 OTTHUMG00000018961 uc001kvt.4 AK026182 NM_024789 CCDS7535 Q14CX5 12477932 MGI:1922396 RGD:1309313 620255 HGNC:26196 "ENST00000238936.8|NM_024789.4" @@ -18454,7 +18456,7 @@ HGNC:52163 MFSD13B major facilitator superfamily domain containing 13B (pseudoge HGNC:23363 MFSD14A major facilitator superfamily domain containing 14A protein-coding gene gene with protein product Approved 1p21.2 01p21.2 DKFZP564L0864 HIAT1 hippocampus abundant transcript 1 2003-11-13 2015-11-02 2015-11-02 2023-01-20 64645 ENSG00000156875 OTTHUMG00000010755 uc001dst.4 AK096669 NM_033055 CCDS763 Q96MC6 9299464 MGI:1201609 RGD:9294064 620347 HGNC:23363 "ENST00000370152.8|NM_033055.3" HGNC:23376 MFSD14B major facilitator superfamily domain containing 14B protein-coding gene gene with protein product Approved 9q22.32 09q22.32 FLJ14753 HIATL1 hippocampus abundant transcript-like 1 2005-07-25 2015-11-02 2015-11-02 2023-01-20 84641 ENSG00000148110 OTTHUMG00000020265 uc004aur.4 AK027659 NM_032558 CCDS6710 Q5SR56 MGI:1913881 RGD:1308377 620348 HGNC:23376 "ENST00000375344.8|NM_032558.3" HGNC:23672 MFSD14CP major facilitator superfamily domain containing 14C, pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 MGC12945 "HIATL2|MFSD14C" "hippocampus abundant transcript-like 2|major facilitator superfamily domain containing 14C" 2003-12-01 2022-05-26 2022-05-26 2023-03-15 84278 ENSG00000196312 OTTHUMG00000020317 uc004aws.3 BC005058 NR_172874 Q5VZR4 HGNC:23672 -HGNC:14010 MGA MAX dimerization protein MGA protein-coding gene gene with protein product Approved 15q15 15q15 "KIAA0518|MAD5|MXD5|FLJ12634" MAX gene associated "MAX dimerization proteins|T-box transcription factors|MicroRNA protein coding host genes" "637|766|1691" 2002-11-11 2019-01-21 2023-01-20 23269 ENSG00000174197 OTTHUMG00000172719 uc010ucy.2 AB011090 NM_001164273.1 "CCDS55960|CCDS55959|CCDS91982" Q8IWI9 MGI:1352483 RGD:1561597 616061 HGNC:14010 +HGNC:14010 MGA MAX dimerization protein MGA protein-coding gene gene with protein product Approved 15q15 15q15 "KIAA0518|MAD5|MXD5|FLJ12634" MAX gene associated "MAX dimerization proteins|T-box transcription factors|MicroRNA protein coding host genes" "637|766|1691" 2002-11-11 2019-01-21 2023-01-20 23269 ENSG00000174197 OTTHUMG00000172719 uc010ucy.2 AB011090 NM_001164273.1 "CCDS55959|CCDS55960|CCDS91982" Q8IWI9 MGI:1352483 RGD:1561597 616061 HGNC:14010 HGNC:7043 MGAM maltase-glucoamylase protein-coding gene gene with protein product Approved 7q34 07q34 MGA alpha-glucosidase Glycoside hydrolase family 31 1413 1999-09-07 2015-03-19 2023-01-20 8972 ENSG00000257335 OTTHUMG00000158395 uc064isb.1 AF016833 NM_001365693 "CCDS47727|CCDS94221" O43451 9446624 MGI:1203495 RGD:9369725 154360 objectId:2627 "3.2.1.20|3.2.1.3" HGNC:7043 "ENST00000475668.6|NM_001365693.1" HGNC:7043 HGNC:28101 MGAM2 maltase-glucoamylase 2 (putative) protein-coding gene gene with protein product Approved 7q34 07q34 Glycoside hydrolase family 31 1413 2015-03-19 2023-01-20 93432 ENSG00000257743 OTTHUMG00000158558 NM_001293626 CCDS78281 Q2M2H8 24870542 MGI:3645497 RGD:1308368 HGNC:28101 "ENST00000477922.4|NM_001293626.2" HGNC:29969 MGARP mitochondria localized glutamic acid rich protein protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "OSAP|CESP-1|HUMMR" "ovary-specific acidic protein|corneal endothelium-specific protein 1|hypoxia up-regulated mitochondrial movement regulator" C4orf49 chromosome 4 open reading frame 49 2008-11-28 2012-04-17 2015-11-13 2023-01-20 84709 ENSG00000137463 OTTHUMG00000161325 uc003ihr.1 AF484960 NM_032623 CCDS43269 Q8TDB4 MGI:1914999 RGD:1586369 619684 HGNC:29969 "ENST00000398955.2|NM_032623.4" @@ -18464,19 +18466,19 @@ HGNC:51244 MGAT2P1 MGAT2 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26 HGNC:51243 MGAT2P2 MGAT2 pseudogene 2 pseudogene pseudogene Approved Xq26.3 Xq26.3 2014-10-10 2014-10-10 100422589 ENSG00000238200 OTTHUMG00000022493 NG_026891 PGOHUM00000305343 HGNC:51243 HGNC:7046 MGAT3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 GNT-III mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 1993-08-27 2019-08-27 2023-01-20 4248 ENSG00000128268 OTTHUMG00000030185 uc003axv.6 D13789 NM_002409 CCDS13994 Q09327 8370666 MGI:104532 RGD:3084 604621 2.4.1.144 HGNC:7046 "ENST00000341184.7|NM_002409.5" HGNC:51356 MGAT3-AS1 MGAT3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 TapSAKI transcript predicting survival in AKI (acute kidney injury) Antisense RNAs 1987 2014-10-29 2014-10-29 104502417 ENSG00000227188 OTTHUMG00000151100 NR_126469 25294924 MGAT3-AS1 HGNC:51356 -HGNC:7047 MGAT4A alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "GnT-Iva|GnT-4a" "mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A" Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 1999-09-28 2018-06-18 2023-01-20 11320 ENSG00000071073 OTTHUMG00000130563 uc002sze.3 AB000616 NM_012214 "CCDS2036|CCDS54380" Q9UM21 10024668 MGI:2662992 RGD:1305650 604623 2.4.1.145 HGNC:7047 "ENST00000393487.6|NM_012214.3" +HGNC:7047 MGAT4A alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "GnT-Iva|GnT-4a" "mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A" Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 1999-09-28 2018-06-18 2023-01-20 11320 ENSG00000071073 OTTHUMG00000130563 uc002sze.3 AB000616 NM_012214 "CCDS54380|CCDS2036" Q9UM21 10024668 MGI:2662992 RGD:1305650 604623 2.4.1.145 HGNC:7047 "ENST00000393487.6|NM_012214.3" HGNC:7048 MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 GnT-Ivb "mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B" "Mannosyl-glycoprotein N-acetylglucosaminyltransferases|MicroRNA protein coding host genes" "435|1691" 1999-09-28 2018-06-18 2023-01-20 11282 ENSG00000161013 OTTHUMG00000130912 uc003mks.4 AB000624 NM_014275 "CCDS4448|CCDS4449" Q9UQ53 10372966 MGI:2143974 RGD:1562836 604561 2.4.1.145 HGNC:7048 "ENST00000292591.12|NM_014275.5" HGNC:30871 MGAT4C MGAT4 family member C protein-coding gene gene with protein product Approved 12q21.31-q21.32 12q21.31-q21.32 HGNT-IV-H "mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)|MGAT4 family, member C" Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2006-02-02 2015-11-18 2023-01-20 25834 ENSG00000182050 OTTHUMG00000169846 uc001taj.5 NM_013244 CCDS9030 Q9UBM8 10570912 MGI:1914819 RGD:1307871 607385 2.4.1.145 HGNC:30871 "ENST00000611864.5|NM_001351288.2" HGNC:43619 MGAT4D MGAT4 family member D protein-coding gene gene with protein product Approved 4q31.1 04q31.1 GnT1IP "glycosyltransferase 54 domain containing 1|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase family, member D|GlcNAcT-I Inhibitory Protein" MGAT4 family, member D Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2014-07-14 2015-11-18 2023-01-20 152586 ENSG00000205301 OTTHUMG00000161376 NM_001277353 CCDS64066 A6NG13 "20805325|26371870" MGI:1914805 RGD:1310572 610310 2.4.1.- HGNC:43619 "ENST00000511113.6|NM_001277353.2" HGNC:49418 MGAT4EP MGAT4 family member E, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 MGAT4 family, member E, pseudogene Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2014-07-14 2015-11-18 2020-08-14 641515 ENSG00000184774 OTTHUMG00000041380 NR_038135 MGI:1918251 RGD:1308112 HGNC:49418 HGNC:49419 MGAT4FP MGAT4 family member F, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2019-08-27 2020-04-20 100506747 ENSG00000234761 OTTHUMG00000042049 NR_036557 MGI:3045320 PGOHUM00000244392 HGNC:49419 HGNC:7049 MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 2q21.2-q21.3 02q21.2-q21.3 "GNT-V|MGAT5A" alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase "Mannosyl-glycoprotein N-acetylglucosaminyltransferases|MicroRNA protein coding host genes" "435|1691" 1994-07-26 2018-06-18 2023-01-20 4249 ENSG00000152127 OTTHUMG00000131681 uc061nyh.1 D17716 NM_002410 CCDS2171 Q09328 8292036 MGI:894701 RGD:620100 601774 2.4.1.155 HGNC:7049 "ENST00000281923.4|NM_002410.5" -HGNC:24140 MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B protein-coding gene gene with protein product Approved 17q25.2 17q25.2 "GnT-IX|FLJ25132|GnT-VB" mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2004-02-20 2018-06-18 2023-01-20 146664 ENSG00000167889 OTTHUMG00000177278 uc002jth.4 AB109185 NM_144677 "CCDS45788|CCDS59299|CCDS11751" Q3V5L5 "14617637|14623122" MGI:3606200 RGD:1305188 612441 HGNC:24140 "ENST00000569840.7|NM_001199172.2" -HGNC:17038 MGLL monoglyceride lipase protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "HU-K5|MGL|MAGL" monoacylglycerol lipase Lipases 464 2001-12-13 2023-01-20 11343 ENSG00000074416 OTTHUMG00000159641 uc003ejx.4 BC000551 NM_007283 "CCDS58852|CCDS46902|CCDS43148" Q99685 9495531 MGI:1346042 RGD:71039 609699 S33.979 objectId:1399 3.1.1.23 HGNC:17038 "ENST00000265052.10|NM_007283.7" -HGNC:16205 MGME1 mitochondrial genome maintenance exonuclease 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "bA504H3.4|DDK1" C20orf72 chromosome 20 open reading frame 72 Exonucleases 544 2001-07-17 2013-01-11 2013-01-11 2023-01-20 92667 ENSG00000125871 OTTHUMG00000031955 uc002wqh.5 NM_052865 "CCDS86934|CCDS13131|CCDS82600" Q9BQP7 "23313956|23358826|23434322" MGI:1921778 RGD:1307465 615076 354122 HGNC:16205 "ENST00000377710.10|NM_052865.4" HGNC:16205 +HGNC:24140 MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B protein-coding gene gene with protein product Approved 17q25.2 17q25.2 "GnT-IX|FLJ25132|GnT-VB" mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2004-02-20 2018-06-18 2023-01-20 146664 ENSG00000167889 OTTHUMG00000177278 uc002jth.4 AB109185 NM_144677 "CCDS11751|CCDS45788|CCDS59299" Q3V5L5 "14617637|14623122" MGI:3606200 RGD:1305188 612441 HGNC:24140 "ENST00000569840.7|NM_001199172.2" +HGNC:17038 MGLL monoglyceride lipase protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "HU-K5|MGL|MAGL" monoacylglycerol lipase Lipases 464 2001-12-13 2023-01-20 11343 ENSG00000074416 OTTHUMG00000159641 uc003ejx.4 BC000551 NM_007283 "CCDS58852|CCDS43148|CCDS46902" Q99685 9495531 MGI:1346042 RGD:71039 609699 S33.979 objectId:1399 3.1.1.23 HGNC:17038 "ENST00000265052.10|NM_007283.7" +HGNC:16205 MGME1 mitochondrial genome maintenance exonuclease 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "bA504H3.4|DDK1" C20orf72 chromosome 20 open reading frame 72 Exonucleases 544 2001-07-17 2013-01-11 2013-01-11 2023-01-20 92667 ENSG00000125871 OTTHUMG00000031955 uc002wqh.5 NM_052865 "CCDS13131|CCDS86934|CCDS82600" Q9BQP7 "23313956|23358826|23434322" MGI:1921778 RGD:1307465 615076 354122 HGNC:16205 "ENST00000377710.10|NM_052865.4" HGNC:16205 HGNC:7059 MGMT O-6-methylguanine-DNA methyltransferase protein-coding gene gene with protein product Approved 10q26.3 10q26.3 methylated-DNA--protein-cysteine methyltransferase Methyltransferase families 1398 1989-10-16 2023-01-20 4255 ENSG00000170430 OTTHUMG00000019261 uc001lkh.3 M29971 NM_002412 CCDS7660 P16455 MGI:96977 RGD:3087 156569 352561 HGNC:7059 "ENST00000651593.1|NM_002412.5" HGNC:7060 MGP matrix Gla protein protein-coding gene gene with protein product Approved 12p12.3 12p12.3 Gla domain containing 1250 1991-08-01 2023-01-20 4256 ENSG00000111341 OTTHUMG00000168740 uc001rcn.3 M58549 NM_000900 "CCDS53752|CCDS8669" P08493 2394711 MGI:96976 RGD:3088 154870 123219 HGNC:7060 "ENST00000539261.6|NM_000900.5" HGNC:7060 -HGNC:20254 MGRN1 mahogunin ring finger 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA0544|RNF156" "mahogunin, ring finger 1|mahogunin ring finger 1, E3 ubiquitin protein ligase" "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2003-01-15 2016-03-21 2023-01-20 23295 ENSG00000102858 OTTHUMG00000176436 uc002cxa.4 AB011116 NM_001142289 "CCDS42115|CCDS59256|CCDS45401|CCDS45402" O60291 9628581 MGI:2447670 RGD:1311862 607559 HGNC:20254 "ENST00000262370.12|NM_015246.4" +HGNC:20254 MGRN1 mahogunin ring finger 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA0544|RNF156" "mahogunin, ring finger 1|mahogunin ring finger 1, E3 ubiquitin protein ligase" "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2003-01-15 2016-03-21 2023-01-20 23295 ENSG00000102858 OTTHUMG00000176436 uc002cxa.4 AB011116 NM_001142289 "CCDS59256|CCDS42115|CCDS45402|CCDS45401" O60291 9628581 MGI:2447670 RGD:1311862 607559 HGNC:20254 "ENST00000262370.12|NM_015246.4" HGNC:7061 MGST1 microsomal glutathione S-transferase 1 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "MGST-I|PMAN" peritoneal metastasis associated long noncoding RNA GST12 Microsomal glutathione S-transferases 1469 1989-05-24 2023-01-20 4257 ENSG00000008394 OTTHUMG00000168816 uc001rdf.4 U46494 NM_145791 "CCDS8677|CCDS58209" P10620 10777602 MGI:1913850 RGD:70927 138330 2.5.1.18 HGNC:7061 "ENST00000396210.8|NM_020300.5" HGNC:7063 MGST2 microsomal glutathione S-transferase 2 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 MGST-II Microsomal glutathione S-transferases 1469 1997-10-16 2023-01-20 4258 ENSG00000085871 OTTHUMG00000133382 uc021xsf.1 U77604 NM_002413 "CCDS3749|CCDS56339" Q99735 8703034 MGI:2448481 RGD:1311218 601733 2.5.1.18 HGNC:7063 "ENST00000265498.6|NM_002413.5" HGNC:7064 MGST3 microsomal glutathione S-transferase 3 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 GST-III "microsomal glutathione S-transferase III|microsomal GST-3|microsomal GST-III" Microsomal glutathione S-transferases 1469 1997-10-16 2023-01-20 4259 ENSG00000143198 OTTHUMG00000034627 uc001gdf.4 AF026977 NM_004528 CCDS1249 O14880 9278457 MGI:1913697 RGD:1306373 604564 2.5.1.18 HGNC:7064 "ENST00000367889.8|NM_004528.4" @@ -18484,73 +18486,73 @@ HGNC:53110 MHENCR melanoma highly expressed competing endogenous lncRNA for miR- HGNC:51291 MHRT myosin heavy chain associated RNA transcript non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Myheart Long non-coding RNAs with non-systematic symbols 1992 2014-09-17 2017-07-24 2017-07-24 104564225 NR_126491 25119045 MGI:3642848 616096 MHRT HGNC:51291 HGNC:7076 MIA MIA SH3 domain containing protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "CD-RAP|MIA1" melanoma inhibitory activity MIA family 1300 1999-12-14 2018-05-17 2023-05-24 8190 ENSG00000261857 OTTHUMG00000182693 uc060ywx.1 X75450 NM_001202553 CCDS12566 Q16674 "7923218|8661134" MGI:109615 RGD:620883 601340 HGNC:7076 "ENST00000263369.4|NM_006533.4" HGNC:48352 MIA-RAB4B MIA-RAB4B readthrough (NMD candidate) other readthrough Approved 19q13.2 19q13.2 2013-05-10 2013-05-10 100529262 ENSG00000268975 OTTHUMG00000182782 NR_037775 HGNC:48352 -HGNC:18432 MIA2 MIA SH3 domain ER export factor 2 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "FLJ22404|TALI|MEA6|cTAGE-5A|cTAGE-5B|cTAGE-5C|cTAGE-5D|MGEA11" TANGO1-like "CTAGE5|MGEA|MGEA6" "CTAGE family member 5, ER export factor|meningioma expressed antigen 6 (coiled-coil proline-rich)|CTAGE family member 5|melanoma inhibitory activity 2" "CTAGE family|MIA family" "907|1300" 2003-10-02 2018-05-17 2023-01-20 4253 ENSG00000150527 OTTHUMG00000028831 uc001wux.4 BC035981 NM_054024 "CCDS58316|CCDS9672|CCDS86384|CCDS86386|CCDS86385|CCDS9673|CCDS9674|CCDS58317|CCDS9675|CCDS9676" Q96PC5 "12586826|27138255" MGI:2159614 RGD:6488546 602132 HGNC:18432 "ENST00000640607.2|NM_001329214.4" +HGNC:18432 MIA2 MIA SH3 domain ER export factor 2 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "FLJ22404|TALI|MEA6|cTAGE-5A|cTAGE-5B|cTAGE-5C|cTAGE-5D|MGEA11" TANGO1-like "CTAGE5|MGEA|MGEA6" "CTAGE family member 5, ER export factor|meningioma expressed antigen 6 (coiled-coil proline-rich)|CTAGE family member 5|melanoma inhibitory activity 2" "CTAGE family|MIA family" "907|1300" 2003-10-02 2018-05-17 2023-01-20 4253 ENSG00000150527 OTTHUMG00000028831 uc001wux.4 BC035981 NM_054024 "CCDS86386|CCDS86385|CCDS9674|CCDS58316|CCDS9672|CCDS86384|CCDS9673|CCDS9676|CCDS58317|CCDS9675" Q96PC5 "12586826|27138255" MGI:2159614 RGD:6488546 602132 HGNC:18432 "ENST00000640607.2|NM_001329214.4" HGNC:55436 MIA2-AS1 MIA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Antisense RNAs 1987 2021-01-14 2021-01-14 100288846 ENSG00000258940 NR_038935 -HGNC:24008 MIA3 MIA SH3 domain ER export factor 3 protein-coding gene gene with protein product Approved 1q41 01q41 "UNQ6077|FLJ39207|KIAA0268|TANGO|TANGO1" "C219 reactive peptide|transport and golgi organization" "melanoma inhibitory activity family member 3|MIA family member 3, ER export factor" "CTAGE family|MIA family" "907|1300" 2006-01-24 2006-07-25 2018-05-17 2023-01-20 375056 ENSG00000154305 OTTHUMG00000037543 uc001hnl.4 NM_198551 "CCDS73035|CCDS41470" Q5JRA6 "15183315|21525241" MGI:2443183 RGD:1591600 613455 HGNC:24008 "ENST00000344922.10|NM_198551.4" +HGNC:24008 MIA3 MIA SH3 domain ER export factor 3 protein-coding gene gene with protein product Approved 1q41 01q41 "UNQ6077|FLJ39207|KIAA0268|TANGO|TANGO1" "C219 reactive peptide|transport and golgi organization" "melanoma inhibitory activity family member 3|MIA family member 3, ER export factor" "CTAGE family|MIA family" "907|1300" 2006-01-24 2006-07-25 2018-05-17 2023-01-20 375056 ENSG00000154305 OTTHUMG00000037543 uc001hnl.4 NM_198551 "CCDS41470|CCDS73035" Q5JRA6 "15183315|21525241" MGI:2443183 RGD:1591600 613455 HGNC:24008 "ENST00000344922.10|NM_198551.4" HGNC:33425 MIAT myocardial infarction associated transcript non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 "FLJ25967|Rncr2|gomafu|NCRNA00066|LINC00066|lncRNA-MIAT" "non-protein coding RNA 66|long intergenic non-protein coding RNA 66" C22orf35 "chromosome 22 open reading frame 35|myocardial infarction associated transcript (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2007-03-22 2018-05-16 2018-05-16 440823 ENSG00000225783 OTTHUMG00000150985 uc032qkk.2 AB263414 NR_003491 "17066261|17623775|23628989|23726844" MGI:2444886 RGD:7567380 611082 gomafu HGNC:33425 HGNC:50731 MIATNB MIAT neighbor non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 MIAT neighbor (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-06-13 2018-05-16 2018-05-16 102724827 ENSG00000244625 OTTHUMG00000150981 AK026502 NR_110543 HGNC:50731 HGNC:21086 MIB1 MIB E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "DIP-1|MIB|KIAA1323|ZZANK2|ZZZ6" DAPK-interacting protein 1 mindbomb homolog 1 (Drosophila) "Ring finger proteins|Zinc fingers ZZ-type|Ankyrin repeat domain containing|MicroRNA protein coding host genes" "58|91|403|1691" 2004-06-18 2020-10-29 2023-01-20 57534 ENSG00000101752 OTTHUMG00000131753 uc002ktq.5 AB037744 NM_020774 CCDS11871 Q86YT6 MGI:2443157 RGD:1307195 LRG_759|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_759.xml 608677 326843 HGNC:21086 "ENST00000261537.7|NM_020774.4" HGNC:21086 -HGNC:30577 MIB2 MIB E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "skeletrophin|ZZZ5|FLJ39787" ZZANK1 "zinc finger, ZZ type with ankyrin repeat domain 1|mindbomb homolog 2 (Drosophila)" "Ring finger proteins|Zinc fingers ZZ-type|Ankyrin repeat domain containing" "58|91|403" 2004-12-21 2005-04-01 2020-10-29 2023-01-20 142678 ENSG00000197530 OTTHUMG00000074647 uc001agg.4 AK097106 NM_080875 "CCDS41224|CCDS53264|CCDS53261|CCDS53262" Q96AX9 12761501 MGI:2679684 RGD:1359469 611141 HGNC:30577 "ENST00000355826.10|NM_001170687.4" -HGNC:7090 MICA MHC class I polypeptide-related sequence A protein-coding gene gene with protein product Approved 6p21.33 06p21.33 PERB11.1 C1-set domain containing 591 1994-05-16 2023-01-20 100507436 ENSG00000204520 OTTHUMG00000031073 uc011inc.3 L14848 NM_001177519 "CCDS75421|CCDS56412|CCDS93880" Q29983 8022771 "MGI:2179988|MGI:2179989" RGD:1311714 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 600169 HGNC:7090 "ENST00000449934.7|NM_001177519.3" +HGNC:30577 MIB2 MIB E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "skeletrophin|ZZZ5|FLJ39787" ZZANK1 "zinc finger, ZZ type with ankyrin repeat domain 1|mindbomb homolog 2 (Drosophila)" "Ring finger proteins|Zinc fingers ZZ-type|Ankyrin repeat domain containing" "58|91|403" 2004-12-21 2005-04-01 2020-10-29 2023-01-20 142678 ENSG00000197530 OTTHUMG00000074647 uc001agg.4 AK097106 NM_080875 "CCDS53264|CCDS41224|CCDS53262|CCDS53261" Q96AX9 12761501 MGI:2679684 RGD:1359469 611141 HGNC:30577 "ENST00000355826.10|NM_001170687.4" +HGNC:7090 MICA MHC class I polypeptide-related sequence A protein-coding gene gene with protein product Approved 6p21.33 06p21.33 PERB11.1 C1-set domain containing 591 1994-05-16 2023-01-20 100507436 ENSG00000204520 OTTHUMG00000031073 uc011inc.3 L14848 NM_001177519 "CCDS56412|CCDS93880|CCDS75421" Q29983 8022771 "MGI:2179988|MGI:2179989" RGD:1311714 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 600169 HGNC:7090 "ENST00000449934.7|NM_001177519.3" HGNC:53631 MICA-AS1 MICA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 Antisense RNAs 1987 2017-08-04 2017-08-04 101929072 NR_148222 HGNC:53631 -HGNC:20619 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 protein-coding gene gene with protein product Approved 6q21 06q21 "MICAL|FLJ11937|DKFZp434B1517|FLJ21739" protein-methionine sulfoxide oxidase MICAL1 NICAL NEDD9 interacting protein with calponin homology and LIM domains LIM domain containing 1218 2003-05-20 2005-02-16 2013-03-26 2023-01-20 64780 ENSG00000135596 OTTHUMG00000015350 uc003ptk.4 AB048948 NM_022765 "CCDS69170|CCDS5076|CCDS55047" Q8TDZ2 11827972 MGI:2385847 RGD:1309386 607129 HGNC:20619 "ENST00000358807.8|NM_022765.4" -HGNC:24693 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "KIAA0750|FLJ14966" MICALCL MICAL C-terminal like "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2005-02-16 2013-03-26 2023-03-15 9645 ENSG00000133816 OTTHUMG00000165744 uc001mjz.5 AB018293 NM_014632 "CCDS60727|CCDS7809|CCDS60726|CCDS91443|CCDS91442" O94851 12110185 MGI:2444947 RGD:1311773 608881 HGNC:24693 "ENST00000683283.1|NM_001282663.2" -HGNC:24694 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 KIAA0819 "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2005-02-16 2013-03-26 2023-01-20 57553 ENSG00000243156 OTTHUMG00000150067 uc002zng.5 AB037785 NM_001122731 "CCDS46659|CCDS46660|CCDS46661" Q7RTP6 12110185 MGI:2442733 RGD:1359504 608882 HGNC:24694 "ENST00000441493.7|NM_015241.3" -HGNC:29804 MICALL1 MICAL like 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "MIRAB13|KIAA1668|MICAL-L1" molecule interacting with Rab13 MICAL-like 1 LIM domain containing 1218 2006-11-24 2015-12-07 2023-01-20 85377 ENSG00000100139 OTTHUMG00000150670 uc003aui.4 BK000466 NM_033386 "CCDS93162|CCDS13961|CCDS93161|CCDS93163" Q8N3F8 "11258795|12110185" MGI:105870 RGD:1305415 619563 HGNC:29804 "ENST00000215957.10|NM_033386.4" +HGNC:20619 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 protein-coding gene gene with protein product Approved 6q21 06q21 "MICAL|FLJ11937|DKFZp434B1517|FLJ21739" protein-methionine sulfoxide oxidase MICAL1 NICAL NEDD9 interacting protein with calponin homology and LIM domains LIM domain containing 1218 2003-05-20 2005-02-16 2013-03-26 2023-01-20 64780 ENSG00000135596 OTTHUMG00000015350 uc003ptk.4 AB048948 NM_022765 "CCDS69170|CCDS55047|CCDS5076" Q8TDZ2 11827972 MGI:2385847 RGD:1309386 607129 HGNC:20619 "ENST00000358807.8|NM_022765.4" +HGNC:24693 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "KIAA0750|FLJ14966" MICALCL MICAL C-terminal like "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2005-02-16 2013-03-26 2023-03-15 9645 ENSG00000133816 OTTHUMG00000165744 uc001mjz.5 AB018293 NM_014632 "CCDS60727|CCDS7809|CCDS91443|CCDS91442|CCDS60726" O94851 12110185 MGI:2444947 RGD:1311773 608881 HGNC:24693 "ENST00000683283.1|NM_001282663.2" +HGNC:24694 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 KIAA0819 "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2005-02-16 2013-03-26 2023-01-20 57553 ENSG00000243156 OTTHUMG00000150067 uc002zng.5 AB037785 NM_001122731 "CCDS46661|CCDS46660|CCDS46659" Q7RTP6 12110185 MGI:2442733 RGD:1359504 608882 HGNC:24694 "ENST00000441493.7|NM_015241.3" +HGNC:29804 MICALL1 MICAL like 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "MIRAB13|KIAA1668|MICAL-L1" molecule interacting with Rab13 MICAL-like 1 LIM domain containing 1218 2006-11-24 2015-12-07 2023-01-20 85377 ENSG00000100139 OTTHUMG00000150670 uc003aui.4 BK000466 NM_033386 "CCDS93163|CCDS93162|CCDS13961|CCDS93161" Q8N3F8 "11258795|12110185" MGI:105870 RGD:1305415 619563 HGNC:29804 "ENST00000215957.10|NM_033386.4" HGNC:29672 MICALL2 MICAL like 2 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "MGC46023|FLJ23471|MICAL-L2|JRAB" junctional Rab13-binding protein LIM domain containing 1218 2006-11-24 2016-02-16 2023-01-20 79778 ENSG00000164877 OTTHUMG00000119021 uc003skj.5 BC037988 NM_182924 CCDS5324 Q8IY33 "12110185|16525024" MGI:2444818 RGD:1307875 HGNC:29672 "ENST00000297508.8|NM_182924.4" HGNC:56050 MICALL2-DT MICALL2 divergent transcript non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Divergent transcripts 1990 2021-12-09 2021-12-09 107986756 ENSG00000225981 XR_001745046 -HGNC:7091 MICB MHC class I polypeptide-related sequence B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 PERB11.2 C1-set domain containing 591 1994-05-16 2023-01-20 4277 ENSG00000204516 OTTHUMG00000031074 uc003nto.6 NM_005931 "CCDS75422|CCDS43449|CCDS75423" Q29980 8022771 MGI:2179989 RGD:1564508 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 602436 HGNC:7091 "ENST00000252229.7|NM_005931.5" +HGNC:7091 MICB MHC class I polypeptide-related sequence B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 PERB11.2 C1-set domain containing 591 1994-05-16 2023-01-20 4277 ENSG00000204516 OTTHUMG00000031074 uc003nto.6 NM_005931 "CCDS75423|CCDS75422|CCDS43449" Q29980 8022771 MGI:2179989 RGD:1564508 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 602436 HGNC:7091 "ENST00000252229.7|NM_005931.5" HGNC:53632 MICB-DT MICB divergent transcript non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 TCONS_00012692 Divergent transcripts 1990 2017-08-04 2017-08-04 102725068 NR_149132 HGNC:53632 HGNC:7092 MICC MHC class I polypeptide-related sequence C (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 PERB11.3 MHC class I polypeptide-related sequence C 1994-09-07 2011-05-05 2020-04-20 100129192 ENSG00000226577 OTTHUMG00000031078 NG_027534 8022771 PGOHUM00000243573 HGNC:7092 HGNC:7093 MICD MHC class I polypeptide-related sequence D (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 PERB11.4 "MHC class I polypeptide-related sequence D|MHC class I polypeptide-related sequence D, pseudogene" 1994-09-07 2011-05-05 2016-10-05 4279 ENSG00000229390 OTTHUMG00000031082 NG_015983 "8022771|10557312" PGOHUM00000243132 HGNC:7093 HGNC:7094 MICE MHC class I polypeptide-related sequence E (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 "dJ377H14.7|PERB11.5" MHC class I polypeptide-related sequence E 1994-09-07 2011-05-05 2020-12-11 4280 ENSG00000273340 OTTHUMG00000031084 NG_002916 10331161 PGOHUM00000243127 HGNC:7094 HGNC:16801 MICF MHC class I polypeptide-related sequence F (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 MHC class I polypeptide-related sequence F, pseudogene 2003-05-22 2011-05-05 2016-08-17 352957 ENSG00000233265 OTTHUMG00000031085 NG_015984 10557312 HGNC:16801 HGNC:16802 MICG MHC class I polypeptide-related sequence G (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 MHC class I polypeptide-related sequence G, pseudogene 2003-05-22 2011-05-05 2016-08-17 352967 ENSG00000237042 OTTHUMG00000031087 NG_002733 10557312 HGNC:16802 -HGNC:32068 MICOS10 mitochondrial contact site and cristae organizing system subunit 10 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "RP5-1056L3.2|FLJ36999|MIO10|Mic10" "C1orf151|MINOS1" "chromosome 1 open reading frame 151|mitochondrial inner membrane organizing system 1" Mitochondrial contact site and cristae organizing system subunits 1616 2005-07-13 2018-11-16 2018-11-16 2023-01-20 440574 ENSG00000173436 OTTHUMG00000002712 uc001bci.3 AK094318 NM_001032363 "CCDS30620|CCDS72719" Q5TGZ0 "21944719|24687277" MGI:1913628 RGD:1560187 616574 470662 HGNC:32068 "ENST00000322753.7|NM_001032363.4" +HGNC:32068 MICOS10 mitochondrial contact site and cristae organizing system subunit 10 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "RP5-1056L3.2|FLJ36999|MIO10|Mic10" "C1orf151|MINOS1" "chromosome 1 open reading frame 151|mitochondrial inner membrane organizing system 1" Mitochondrial contact site and cristae organizing system subunits 1616 2005-07-13 2018-11-16 2018-11-16 2023-01-20 440574 ENSG00000173436 OTTHUMG00000002712 uc001bci.3 AK094318 NM_001032363 "CCDS72719|CCDS30620" Q5TGZ0 "21944719|24687277" MGI:1913628 RGD:1560187 616574 470662 HGNC:32068 "ENST00000322753.7|NM_001032363.4" HGNC:55676 MICOS10-DT MICOS10 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Divergent transcripts 1990 2021-07-01 2021-07-01 105378614 ENSG00000235185 NR_135054 HGNC:48338 MICOS10-NBL1 MICOS10-NBL1 readthrough other readthrough Approved 1p36.13 01p36.13 MINOS1-NBL1 MINOS1-NBL1 readthrough 2013-05-09 2018-11-16 2018-11-16 2018-11-16 100532736 ENSG00000270136 OTTHUMG00000183956 NM_001204088 MGI:104591 HGNC:48338 HGNC:25036 MICOS10P1 MICOS10 pseudogene 1 pseudogene pseudogene Approved 13q13.1 13q13.1 CG012 "N4BP2L2IT1|N4BP2L2-IT1|MINOS1P1" "N4BPL2 intronic transcript 1 (non-protein coding)|N4BP2L2 intronic transcript 1 (non-protein coding)|mitochondrial inner membrane organizing system 1 pseudogene 1" 2010-08-05 2018-11-16 2018-11-16 2020-04-20 100462953 "AL049782|U50530" NR_051980 8812419 PGOHUM00000256720 HGNC:25036 HGNC:44092 MICOS10P2 MICOS10 pseudogene 2 pseudogene pseudogene Approved 17q24.1 17q24.1 MINOS1P2 mitochondrial inner membrane organizing system 1 pseudogene 2 2012-06-22 2018-11-16 2018-11-16 2018-11-16 100289489 ENSG00000270714 OTTHUMG00000184949 NG_022912 PGOHUM00000294192 HGNC:44092 HGNC:44093 MICOS10P3 MICOS10 pseudogene 3 pseudogene pseudogene Approved 3p24.1 03p24.1 MINOS1P3 mitochondrial inner membrane organizing system 1 pseudogene 3 2012-06-22 2018-11-16 2018-11-16 2018-11-16 100462954 ENSG00000224237 OTTHUMG00000155687 NG_022915 PGOHUM00000257059 HGNC:44093 HGNC:44094 MICOS10P4 MICOS10 pseudogene 4 pseudogene pseudogene Approved 4q21.21 04q21.21 MINOS1P4 mitochondrial inner membrane organizing system 1 pseudogene 4 2012-06-22 2018-11-16 2018-11-16 2018-11-16 100462957 ENSG00000248117 OTTHUMG00000160898 NG_015812 PGOHUM00000257092 HGNC:44094 -HGNC:33702 MICOS13 mitochondrial contact site and cristae organizing system subunit 13 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "QIL1|P117|MIC13|MIC12" C19orf70 chromosome 19 open reading frame 70 Mitochondrial contact site and cristae organizing system subunits 1616 2008-08-06 2018-11-16 2018-11-16 2023-01-20 125988 ENSG00000174917 OTTHUMG00000180503 uc002mch.2 BC009557 NM_205767 "CCDS12143|CCDS77221" Q5XKP0 "25997101|26477565|27485409" MGI:2442174 RGD:1588578 616658 470018 HGNC:33702 "ENST00000309324.9|NM_205767.3" HGNC:33702 -HGNC:1530 MICU1 mitochondrial calcium uptake 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "CALC|EFHA3|FLJ12684" CBARA1 calcium binding atopy-related autoantigen 1 EF-hand domain containing 863 1999-11-22 2011-06-23 2011-06-23 2023-01-20 10367 ENSG00000107745 OTTHUMG00000018437 uc001jtb.3 Y17711 NM_006077 "CCDS55715|CCDS86101|CCDS55714" Q9BPX6 "9806765|20693986" MGI:2384909 RGD:735033 605084 403288 HGNC:1530 "ENST00000361114.10|NM_001195518.2" HGNC:1530 +HGNC:33702 MICOS13 mitochondrial contact site and cristae organizing system subunit 13 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "QIL1|P117|MIC13|MIC12" C19orf70 chromosome 19 open reading frame 70 Mitochondrial contact site and cristae organizing system subunits 1616 2008-08-06 2018-11-16 2018-11-16 2023-01-20 125988 ENSG00000174917 OTTHUMG00000180503 uc002mch.2 BC009557 NM_205767 "CCDS77221|CCDS12143" Q5XKP0 "25997101|26477565|27485409" MGI:2442174 RGD:1588578 616658 470018 HGNC:33702 "ENST00000309324.9|NM_205767.3" HGNC:33702 +HGNC:1530 MICU1 mitochondrial calcium uptake 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "CALC|EFHA3|FLJ12684" CBARA1 calcium binding atopy-related autoantigen 1 EF-hand domain containing 863 1999-11-22 2011-06-23 2011-06-23 2023-01-20 10367 ENSG00000107745 OTTHUMG00000018437 uc001jtb.3 Y17711 NM_006077 "CCDS55715|CCDS55714|CCDS86101" Q9BPX6 "9806765|20693986" MGI:2384909 RGD:735033 605084 403288 HGNC:1530 "ENST00000361114.10|NM_001195518.2" HGNC:1530 HGNC:31830 MICU2 mitochondrial calcium uptake 2 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 EFHA1 "EF hand domain family A1|EF-hand domain family, member A1" EF-hand domain containing 863 2004-10-13 2013-03-13 2013-03-13 2023-01-20 221154 ENSG00000165487 OTTHUMG00000067414 uc001uof.4 AK091907 NM_152726 CCDS9297 Q8IYU8 23409044 MGI:1915764 RGD:619739 610632 HGNC:31830 "ENST00000382374.9|NM_152726.3" HGNC:27820 MICU3 mitochondrial calcium uptake family member 3 protein-coding gene gene with protein product Approved 8p22 08p22 DKFZp313A0139 EFHA2 "EF hand domain family A2|EF-hand domain family, member A2|mitochondrial calcium uptake family, member 3" EF-hand domain containing 863 2004-10-13 2013-03-14 2015-11-18 2023-01-20 286097 ENSG00000155970 OTTHUMG00000096965 uc003wxd.3 BC032868 NM_181723 CCDS5999 Q86XE3 23409044 MGI:1925756 RGD:1563411 610633 HGNC:27820 "ENST00000318063.10|NM_181723.3" HGNC:7095 MID1 midline 1 protein-coding gene gene with protein product Approved Xp22 Xp22 "OS|FXY|TRIM18|RNF59" Opitz/BBB syndrome "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 1997-12-12 2014-06-18 2023-01-20 4281 ENSG00000101871 OTTHUMG00000021127 uc004cti.5 Y13667 NM_000381 O15344 "9354791|9425238" MGI:1100537 RGD:2640 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MID1 300552 123221 HGNC:7095 "ENST00000317552.9|NM_000381.4" HGNC:7095 HGNC:20715 MID1IP1 MID1 interacting protein 1 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "STRAIT11499|FLJ10386|MIG12|THRSPL|G12-like" gastrulation specific G12 homolog (zebrafish) MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish)) 2004-09-06 2012-02-23 2023-01-20 58526 ENSG00000165175 OTTHUMG00000024092 uc004dej.6 NM_001098790 CCDS14249 Q9NPA3 MGI:1915291 RGD:1303258 300961 HGNC:20715 "ENST00000614558.3|NM_021242.6" HGNC:40932 MID1IP1-AS1 MID1IP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.4 Xp11.4 MID1IP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2022-11-23 100874211 ENSG00000238123 OTTHUMG00000024093 uc033dzm.2 NR_046706 MID1IP1-AS1 HGNC:40932 -HGNC:7096 MID2 midline 2 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "FXY2|TRIM1|RNF60|MRX101" "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 1999-08-25 2023-01-20 11043 ENSG00000080561 OTTHUMG00000022171 uc004enl.4 NM_012216 "CCDS14532|CCDS14533" Q9UJV3 10400986 MGI:1344333 RGD:1565674 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MID2 300204 394877 HGNC:7096 "ENST00000262843.11|NM_012216.4" HGNC:7096 +HGNC:7096 MID2 midline 2 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "FXY2|TRIM1|RNF60|MRX101" "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 1999-08-25 2023-01-20 11043 ENSG00000080561 OTTHUMG00000022171 uc004enl.4 NM_012216 "CCDS14533|CCDS14532" Q9UJV3 10400986 MGI:1344333 RGD:1565674 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MID2 300204 394877 HGNC:7096 "ENST00000262843.11|NM_012216.4" HGNC:7096 HGNC:19853 MIDEAS mitotic deacetylase associated SANT domain protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 LSR68 "C14orf117|C14orf43|ELMSAN1" "chromosome 14 open reading frame 117|chromosome 14 open reading frame 43|ELM2 and Myb/SANT domain containing 1" "Myb/SANT domain containing|MiDAC complex subunits" "532|2103" 2002-11-27 2019-10-11 2019-10-11 2023-03-31 91748 ENSG00000156030 OTTHUMG00000150359 uc001xou.4 BF971739 NM_194278 "CCDS9819|CCDS91901" Q6PJG2 "25653165|32591534" MGI:2685106 RGD:1306119 HGNC:19853 "ENST00000423556.7|NM_001367710.1" HGNC:56194 MIDEAS-AS1 MIDEAS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Antisense RNAs 1987 2022-01-31 2022-01-31 100506476 ENSG00000259065 NR_109995 HGNC:16298 MIDN midnolin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Stx stuxnet homolog (Drosophila) 2001-07-23 2023-01-20 90007 ENSG00000167470 OTTHUMG00000180144 uc002lrp.4 AC004221 NM_001388306 "CCDS92478|CCDS32864" Q504T8 10974535 MGI:1890222 RGD:1309629 606700 HGNC:16298 "ENST00000682408.1|NM_001388306.1" HGNC:25979 MIEF1 mitochondrial elongation factor 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "FLJ20232|MiD51|L0R8F8" MIEF1 upstream open reading frame protein SMCR7L Smith-Magenis syndrome chromosome region, candidate 7-like 2006-06-26 2013-09-23 2013-09-23 2023-01-20 54471 ENSG00000100335 OTTHUMG00000151105 AL365515 NM_019008 "CCDS13995|CCDS77678" "L0R8F8|Q9NQG6" "21508961|21701560" MGI:2146020 RGD:1359173 615497 HGNC:25979 "ENST00000325301.7|NM_019008.6" -HGNC:17920 MIEF2 mitochondrial elongation factor 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "MGC23130|MiD49" SMCR7 Smith-Magenis syndrome chromosome region, candidate 7 2002-01-09 2013-09-23 2013-09-23 2023-01-20 125170 ENSG00000177427 OTTHUMG00000059392 BC014973 NM_139162 "CCDS45625|CCDS11193|CCDS45624" Q96C03 "11997338|21508961" MGI:2144199 RGD:1560728 615498 HGNC:17920 "ENST00000323019.9|NM_139162.4" +HGNC:17920 MIEF2 mitochondrial elongation factor 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "MGC23130|MiD49" SMCR7 Smith-Magenis syndrome chromosome region, candidate 7 2002-01-09 2013-09-23 2013-09-23 2023-01-20 125170 ENSG00000177427 OTTHUMG00000059392 BC014973 NM_139162 "CCDS11193|CCDS45625|CCDS45624" Q96C03 "11997338|21508961" MGI:2144199 RGD:1560728 615498 HGNC:17920 "ENST00000323019.9|NM_139162.4" HGNC:28230 MIEN1 migration and invasion enhancer 1 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC14832|ORB3|XTP4|C35|Rdx12" C17orf37 chromosome 17 open reading frame 37 2004-01-08 2011-09-21 2011-09-21 2023-01-20 84299 ENSG00000141741 OTTHUMG00000133252 uc002hsq.4 AJ308025 NM_032339 "CCDS11344|CCDS82115" Q9BRT3 "17121940|12739007|17503775|21628459" MGI:1913678 RGD:1306682 611802 HGNC:28230 "ENST00000394231.8|NM_032339.5" -HGNC:29657 MIER1 MIER1 transcriptional regulator protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "hMI-ER1|MI-ER1|KIAA1610" "mesoderm induction early response 1 homolog (Xenopus laevis)|mesoderm induction early response 1, transcriptional regulator" Myb/SANT domain containing 532 2005-07-14 2016-01-27 2023-01-20 57708 ENSG00000198160 OTTHUMG00000009194 uc001ddj.2 NM_020948 "CCDS53328|CCDS41347|CCDS53329|CCDS60163|CCDS53325|CCDS41348|CCDS53326|CCDS53327|CCDS53330" Q8N108 "12242014|12482978" MGI:1918398 RGD:1562337 616848 HGNC:29657 "ENST00000401041.6|NM_001077700.3" +HGNC:29657 MIER1 MIER1 transcriptional regulator protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "hMI-ER1|MI-ER1|KIAA1610" "mesoderm induction early response 1 homolog (Xenopus laevis)|mesoderm induction early response 1, transcriptional regulator" Myb/SANT domain containing 532 2005-07-14 2016-01-27 2023-01-20 57708 ENSG00000198160 OTTHUMG00000009194 uc001ddj.2 NM_020948 "CCDS41348|CCDS41347|CCDS53330|CCDS60163|CCDS53329|CCDS53328|CCDS53325|CCDS53326|CCDS53327" Q8N108 "12242014|12482978" MGI:1918398 RGD:1562337 616848 HGNC:29657 "ENST00000401041.6|NM_001077700.3" HGNC:29210 MIER2 MIER family member 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 KIAA1193 "KIAA1193|mesoderm induction early response 1, family member 2" Myb/SANT domain containing 532 2004-02-10 2006-04-20 2016-01-27 2023-01-20 54531 ENSG00000105556 OTTHUMG00000180532 uc002lok.2 AB033019 NM_017550 CCDS32855 Q8N344 10574462 MGI:1917677 RGD:1307278 620092 HGNC:29210 "ENST00000264819.7|NM_017550.3" HGNC:26678 MIER3 MIER family member 3 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "FLJ35954|DKFZp686L09111|DKFZp781I1119" mesoderm induction early response 1, family member 3 Myb/SANT domain containing 532 2006-04-20 2016-01-27 2023-01-20 166968 ENSG00000155545 OTTHUMG00000059589 uc003jra.2 BX537798 NM_152622 "CCDS78011|CCDS75248|CCDS3973" Q7Z3K6 28046085 MGI:2442317 RGD:1311241 620100 HGNC:26678 "ENST00000381199.8|NM_001297599.2" HGNC:7097 MIF macrophage migration inhibitory factor protein-coding gene gene with protein product Approved 22q11.23 22q11.23 GIF "glycosylation-inhibiting factor|phenylpyruvate tautomerase" GLIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) 1993-10-15 2017-08-04 2023-01-20 4282 ENSG00000240972 OTTHUMG00000150773 uc002zyr.2 M25639 NM_002415 CCDS13819 P14174 "7558020|2552447" MGI:96982 RGD:621163 153620 123227 ligandId:9981 5.3.2.1 HGNC:7097 "ENST00000215754.8|NM_002415.2" HGNC:27669 MIF-AS1 MIF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 "LOC284889|MIF-AS" Antisense RNAs 1987 2014-08-13 2016-11-30 284889 ENSG00000218537 OTTHUMG00000150772 NR_038911 "24066864|26895959" MIF-AS1 HGNC:27669 -HGNC:24030 MIF4GD MIF4G domain containing protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "AD023|MGC45027|SLIP1" SLBP-interacting protein 1 MIFD MIF4G domain containing proteins 2128 2005-12-15 2023-01-20 57409 ENSG00000125457 OTTHUMG00000179485 uc002jnr.5 CR605810 NM_020679 "CCDS11719|CCDS58598|CCDS92391|CCDS92390|CCDS56044" A9UHW6 "22532700|18025107" MGI:1916924 RGD:1309685 612072 HGNC:24030 "ENST00000325102.13|NM_001370592.1" +HGNC:24030 MIF4GD MIF4G domain containing protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "AD023|MGC45027|SLIP1" SLBP-interacting protein 1 MIFD MIF4G domain containing proteins 2128 2005-12-15 2023-01-20 57409 ENSG00000125457 OTTHUMG00000179485 uc002jnr.5 CR605810 NM_020679 "CCDS58598|CCDS56044|CCDS92391|CCDS11719|CCDS92390" A9UHW6 "22532700|18025107" MGI:1916924 RGD:1309685 612072 HGNC:24030 "ENST00000325102.13|NM_001370592.1" HGNC:55335 MIF4GD-DT MIF4GD divergent transcript non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 AC022211.2 Divergent transcripts 1990 2020-10-21 2022-10-06 100287042 ENSG00000263843 NR_036520 -HGNC:24741 MIGA1 mitoguardin 1 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FLJ35093 FAM73A family with sequence similarity 73 member A 2005-08-11 2016-06-20 2016-06-20 2023-01-20 374986 ENSG00000180488 OTTHUMG00000009766 uc001dhx.5 NM_198549 "CCDS681|CCDS90981|CCDS90979|CCDS72809|CCDS85989|CCDS90980" Q8NAN2 26716412 MGI:1924567 RGD:1559958 616773 HGNC:24741 "ENST00000370791.8|NM_198549.4" +HGNC:24741 MIGA1 mitoguardin 1 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FLJ35093 FAM73A family with sequence similarity 73 member A 2005-08-11 2016-06-20 2016-06-20 2023-01-20 374986 ENSG00000180488 OTTHUMG00000009766 uc001dhx.5 NM_198549 "CCDS72809|CCDS681|CCDS90979|CCDS85989|CCDS90980|CCDS90981" Q8NAN2 26716412 MGI:1924567 RGD:1559958 616773 HGNC:24741 "ENST00000370791.8|NM_198549.4" HGNC:23621 MIGA2 mitoguardin 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "FLJ14596|FLJ00199" "C9orf54|FAM73B" "chromosome 9 open reading frame 54|family with sequence similarity 73, member B|family with sequence similarity 73 member B" 2003-12-17 2016-06-20 2016-06-20 2023-01-20 84895 ENSG00000148343 OTTHUMG00000020770 uc004bxa.4 AK074127 NM_032809 CCDS6917 Q7L4E1 26716412 MGI:1922035 RGD:1310887 616774 HGNC:23621 "ENST00000684074.1|NM_001329990.2" HGNC:25715 MIIP migration and invasion inhibitory protein protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FLJ12438|IIp45" invasion inhibitory protein 45 MicroRNA protein coding host genes 1691 2009-04-28 2023-01-20 60672 ENSG00000116691 OTTHUMG00000002439 uc001ato.3 AK022500 NM_021933 CCDS143 Q5JXC2 "15867349|14617774" MGI:106506 RGD:1587376 608772 HGNC:25715 "ENST00000235332.6|NM_021933.4" HGNC:43649 MILIP MYC inducible lncRNA inactivating p53 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 c-Myc-Inducible Long noncoding RNA Inactivating P53 "MAFG-AS1|MAFG-DT" "MAFG antisense RNA 1 (non-protein coding)|MAFG antisense RNA 1|MAFG antisense RNA 1 (head to head)|MAFG divergent transcript" Long non-coding RNAs with non-systematic symbols 1992 2011-12-19 2022-03-23 2022-03-23 2022-03-25 92659 ENSG00000265688 OTTHUMG00000178435 uc021ufh.2 NR_015454 33020477 MAFG-AS1 HGNC:43649 -HGNC:27570 MILR1 mast cell immunoglobulin like receptor 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "Allergin-1|MCA-32" "allergy inhibitory receptor 1|mast cell antigen 32" C17orf60 "chromosome 17 open reading frame 60|mast cell immunoglobulin-like receptor 1" Immunoglobulin like domain containing 594 2005-12-16 2011-07-12 2016-04-04 2023-01-20 284021 ENSG00000271605 OTTHUMG00000185198 uc010wpz.4 BC053534 NM_001085423 "CCDS77087|CCDS74133|CCDS77088" Q7Z6M3 20526344 MGI:2685731 RGD:620488 HGNC:27570 "ENST00000619286.5|NM_001085423.2" -HGNC:33464 MIMT1 MER1 repeat containing imprinted transcript 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 "MIM1|NCRNA00067|LINC00067" "non-protein coding RNA 67|long intergenic non-protein coding RNA 67" MER1 repeat containing imprinted transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2007-06-13 2018-05-16 2018-05-16 100073347 ENSG00000268654 OTTHUMG00000182170 uc010ett.2 EF110915 NR_024059 "17509818|26417259" MIMT1 HGNC:33464 +HGNC:27570 MILR1 mast cell immunoglobulin like receptor 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "Allergin-1|MCA-32" "allergy inhibitory receptor 1|mast cell antigen 32" C17orf60 "chromosome 17 open reading frame 60|mast cell immunoglobulin-like receptor 1" Immunoglobulin like domain containing 594 2005-12-16 2011-07-12 2016-04-04 2023-01-20 284021 ENSG00000271605 OTTHUMG00000185198 uc010wpz.4 BC053534 NM_001085423 "CCDS77088|CCDS77087|CCDS74133" Q7Z6M3 20526344 MGI:2685731 RGD:620488 HGNC:27570 "ENST00000619286.5|NM_001085423.2" +HGNC:33464 MIMT1 MER1 repeat containing imprinted transcript 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 "MIM1|NCRNA00067|LINC00067" "non-protein coding RNA 67|long intergenic non-protein coding RNA 67" MER1 repeat containing imprinted transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2007-06-13 2018-05-16 2018-05-16 100073347 ENSG00000268654 OTTHUMG00000182170 uc010ett.2 EF110915 NR_024059 "17509818|26417259" 620407 MIMT1 HGNC:33464 HGNC:29172 MINAR1 membrane integral NOTCH2 associated receptor 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 UBTOR major intrinsically disordered Notch2-associated receptor 1 KIAA1024 KIAA1024 2007-12-12 2018-07-23 2018-07-23 2023-01-20 23251 ENSG00000169330 OTTHUMG00000172073 uc002bew.2 AB028947 NM_015206 CCDS32306 Q9UPX6 "10470851|29329397|30080879" MGI:2667167 RGD:1591930 618054 HGNC:29172 "ENST00000305428.8|NM_015206.3" HGNC:33914 MINAR2 membrane integral NOTCH2 associated receptor 2 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 KIAA1024L KIAA1024 like 2007-12-12 2018-07-23 2018-07-23 2023-01-20 100127206 ENSG00000186367 OTTHUMG00000163041 uc031skx.2 NM_001257308 CCDS58966 P59773 MGI:2442934 RGD:1312005 620215 HGNC:33914 "ENST00000564719.2|NM_001257308.2" HGNC:51653 MINCR MYC-induced long non-coding RNA non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 TCONS_00015189 LINC01604 "long intergenic non-protein coding RNA 1604|MYC-induced long noncoding RNA" Long non-coding RNAs with non-systematic symbols 1992 2015-04-24 2015-09-23 2017-06-07 2017-06-07 100507316 ENSG00000253716 OTTHUMG00000164976 NR_120682 26351698 MINCR HGNC:51653 -HGNC:25648 MINDY1 MINDY lysine 48 deubiquitinase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "FLJ11280|MINDY-1" "MIU-containing novel DUB family member 1|motif interacting with Ub-containing novel DUB" FAM63A "family with sequence similarity 63 member A|MINDY deubiquitinase 1" MINDY deubiquitinases 1376 2005-04-22 2017-01-31 2017-01-31 2023-01-20 55793 ENSG00000143409 OTTHUMG00000035061 uc001ewg.4 BC032321 NM_018379 "CCDS976|CCDS30854|CCDS55635" Q8N5J2 "10718198|27292798" MGI:1922257 RGD:1559660 618407 HGNC:25648 "ENST00000683666.2|NM_001376665.1" -HGNC:26954 MINDY2 MINDY lysine 48 deubiquitinase 2 protein-coding gene gene with protein product Approved 15q21.3-q22.1 15q21.3-q22.1 KIAA1164 FAM63B "family with sequence similarity 63 member B|MINDY deubiquitinase 2" MINDY deubiquitinases 1376 2005-04-22 2017-01-31 2017-01-31 2023-01-20 54629 ENSG00000128923 OTTHUMG00000171983 uc002afj.4 AK075319 NM_019092 "CCDS42046|CCDS45268" Q8NBR6 10574461 MGI:2443086 RGD:1311456 618408 HGNC:26954 "ENST00000559228.6|NM_001040450.3" +HGNC:25648 MINDY1 MINDY lysine 48 deubiquitinase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "FLJ11280|MINDY-1" "MIU-containing novel DUB family member 1|motif interacting with Ub-containing novel DUB" FAM63A "family with sequence similarity 63 member A|MINDY deubiquitinase 1" MINDY deubiquitinases 1376 2005-04-22 2017-01-31 2017-01-31 2023-01-20 55793 ENSG00000143409 OTTHUMG00000035061 uc001ewg.4 BC032321 NM_018379 "CCDS55635|CCDS30854|CCDS976" Q8N5J2 "10718198|27292798" MGI:1922257 RGD:1559660 618407 HGNC:25648 "ENST00000683666.2|NM_001376665.1" +HGNC:26954 MINDY2 MINDY lysine 48 deubiquitinase 2 protein-coding gene gene with protein product Approved 15q21.3-q22.1 15q21.3-q22.1 KIAA1164 FAM63B "family with sequence similarity 63 member B|MINDY deubiquitinase 2" MINDY deubiquitinases 1376 2005-04-22 2017-01-31 2017-01-31 2023-01-20 54629 ENSG00000128923 OTTHUMG00000171983 uc002afj.4 AK075319 NM_019092 "CCDS45268|CCDS42046" Q8NBR6 10574461 MGI:2443086 RGD:1311456 618408 HGNC:26954 "ENST00000559228.6|NM_001040450.3" HGNC:55889 MINDY2-DT MINDY2 divergent transcript non-coding RNA RNA, long non-coding Approved 15q21.3 15q21.3 Divergent transcripts 1990 2021-09-30 2021-09-30 101928725 ENSG00000245975 NR_135474 HGNC:23578 MINDY3 MINDY lysine 48 deubiquitinase 3 protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ13397|CARP|my042|DERP5" "caspase recruitment domain containing pro-apoptotic protein|CARD-containing protein" "C10orf97|FAM188A" "chromosome 10 open reading frame 97|family with sequence similarity 188 member A|MINDY deubiquitinase 3" MINDY deubiquitinases 1376 2004-04-15 2017-01-31 2017-01-31 2023-01-20 80013 ENSG00000148481 OTTHUMG00000017734 uc001iod.2 AK023459 NM_024948 CCDS7110 Q9H8M7 "12054670|17652099|27292798" MGI:1914210 RGD:1309605 611649 HGNC:23578 "ENST00000277632.8|NM_024948.4" HGNC:21916 MINDY4 MINDY lysine 48 deubiquitinase 4 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 FLJ22374 "C7orf67|FAM188B" "chromosome 7 open reading frame 67|family with sequence similarity 188 member B|MINDY deubiquitinase 4" MINDY deubiquitinases 1376 2009-03-10 2017-01-31 2017-01-31 2023-01-20 84182 ENSG00000106125 OTTHUMG00000152800 uc003tbt.3 AK026027 NM_032222 CCDS43565 Q4G0A6 MGI:3583959 RGD:1562590 HGNC:21916 "ENST00000265299.6|NM_032222.3" HGNC:35475 MINDY4B MINDY family member 4B protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "C3orf76|FAM188B2" "chromosome 3 open reading frame 76|family with sequence similarity 188 member B2" MINDY deubiquitinases 1376 2009-03-10 2017-01-31 2017-01-31 2023-01-20 646951 ENSG00000214237 OTTHUMG00000159843 NM_001351281 CCDS93407 A8MYZ0 MGI:2140018 RGD:11362385 HGNC:35475 "ENST00000465419.7|NM_001351281.2" -HGNC:17565 MINK1 misshapen like kinase 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "B55|MINK|ZC3|MAP4K6|YSK2" misshapen/NIK-related kinase "misshapen-like kinase 1 (zebrafish)|misshapen-like kinase 1" "STRIPAK complex|Armadillo like helical domain containing" "1371|1492" 2005-01-20 2016-04-04 2023-01-20 50488 ENSG00000141503 OTTHUMG00000177932 uc010vsl.3 AY775058 NM_015716 "CCDS45589|CCDS45588|CCDS45590" Q8N4C8 "10708748|12087176" MGI:1355329 RGD:1359135 609426 470660 objectId:2103 HGNC:17565 "ENST00000355280.11|NM_153827.5" -HGNC:7102 MINPP1 multiple inositol-polyphosphate phosphatase 1 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 MIPP multiple inositol polyphosphate histidine phosphatase, 1 "Phosphoinositide phosphatases|MicroRNA protein coding host genes" "1079|1691" 1998-11-19 2010-05-04 2023-01-20 9562 ENSG00000107789 OTTHUMG00000018678 uc001keu.4 AF046915 NM_001178117 "CCDS53551|CCDS53552|CCDS7384" Q9UNW1 10087200 MGI:1336159 RGD:3089 605391 3.1.3.62 HGNC:7102 "ENST00000371996.9|NM_004897.5" HGNC:7102 +HGNC:17565 MINK1 misshapen like kinase 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "B55|MINK|ZC3|MAP4K6|YSK2" misshapen/NIK-related kinase "misshapen-like kinase 1 (zebrafish)|misshapen-like kinase 1" "STRIPAK complex|Armadillo like helical domain containing" "1371|1492" 2005-01-20 2016-04-04 2023-01-20 50488 ENSG00000141503 OTTHUMG00000177932 uc010vsl.3 AY775058 NM_015716 "CCDS45588|CCDS45590|CCDS45589" Q8N4C8 "10708748|12087176" MGI:1355329 RGD:1359135 609426 470660 objectId:2103 HGNC:17565 "ENST00000355280.11|NM_153827.5" +HGNC:7102 MINPP1 multiple inositol-polyphosphate phosphatase 1 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 MIPP multiple inositol polyphosphate histidine phosphatase, 1 "Phosphoinositide phosphatases|MicroRNA protein coding host genes" "1079|1691" 1998-11-19 2010-05-04 2023-01-20 9562 ENSG00000107789 OTTHUMG00000018678 uc001keu.4 AF046915 NM_001178117 "CCDS53552|CCDS7384|CCDS53551" Q9UNW1 10087200 MGI:1336159 RGD:3089 605391 3.1.3.62 HGNC:7102 "ENST00000371996.9|NM_004897.5" HGNC:7102 HGNC:21905 MIOS meiosis regulator for oocyte development protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "FLJ20323|MIO|Sea4|Yulink" WD repeat-containing protein mio "missing oocyte, meiosis regulator, homolog (Drosophila)|missing oocyte meiosis regulator homolog" "WD repeat domain containing|GATOR2 subcomplex" "362|1395" 2009-01-27 2016-05-24 2023-01-20 54468 ENSG00000164654 OTTHUMG00000152440 uc003srf.4 NM_019005 CCDS43554 Q9NXC5 "14973288|25512509|23723238" MGI:2182066 RGD:1308432 615359 HGNC:21905 "ENST00000340080.9|NM_019005.4" HGNC:55187 MIOS-DT MIOS divergent transcript non-coding RNA RNA, long non-coding Approved 7p21.3 07p21.3 Divergent transcripts 1990 2020-08-12 2020-08-12 101927391 ENSG00000272894 NR_110084 HGNC:14522 MIOX myo-inositol oxygenase protein-coding gene gene with protein product Approved 22q13.33 22q13.33 kidney-specific protein 32 ALDRL6 aldehyde reductase (aldose reductase) like 6 2002-02-06 2005-06-15 2005-06-15 2023-01-20 55586 ENSG00000100253 OTTHUMG00000150207 uc003blm.2 AF197129 NM_017584 CCDS14092 Q9UGB7 "10944187|11716759" MGI:1891725 RGD:628739 606774 HGNC:14522 "ENST00000216075.11|NM_017584.6" @@ -18560,7 +18562,7 @@ HGNC:7104 MIPEP mitochondrial intermediate peptidase protein-coding gene gene wi HGNC:39456 MIPEPP1 mitochondrial intermediate peptidase pseudogene 1 pseudogene pseudogene Approved 7q31.1 07q31.1 2011-01-17 2012-03-15 100533682 ENSG00000225358 OTTHUMG00000155189 NG_028675 PGOHUM00000232965 HGNC:39456 HGNC:39457 MIPEPP2 mitochondrial intermediate peptidase pseudogene 2 pseudogene pseudogene Approved 1q43 01q43 2011-01-17 2011-01-17 100130099 ENSG00000224783 OTTHUMG00000039535 NG_022759 PGOHUM00000244501 HGNC:39457 HGNC:39458 MIPEPP3 mitochondrial intermediate peptidase pseudogene 3 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-01-17 2014-11-19 650794 ENSG00000233325 OTTHUMG00000016538 NR_038939 PGOHUM00000248519 HGNC:39458 -HGNC:21460 MIPOL1 mirror-image polydactyly 1 protein-coding gene gene with protein product Approved 14q13.3-q21.1 14q13.3-q21.1 CCDC193 2003-10-02 2023-01-20 145282 ENSG00000151338 OTTHUMG00000140252 uc001wuc.4 AY059470 NM_138731 "CCDS91866|CCDS9664|CCDS91869" Q8TD10 "11954550|19667180" MGI:1920740 RGD:6504372 606850 470666 HGNC:21460 "ENST00000684589.1|NM_001388067.1" +HGNC:21460 MIPOL1 mirror-image polydactyly 1 protein-coding gene gene with protein product Approved 14q13.3-q21.1 14q13.3-q21.1 CCDC193 2003-10-02 2023-01-20 145282 ENSG00000151338 OTTHUMG00000140252 uc001wuc.4 AY059470 NM_138731 "CCDS9664|CCDS91869|CCDS91866" Q8TD10 "11954550|19667180" MGI:1920740 RGD:6504372 606850 470666 HGNC:21460 "ENST00000684589.1|NM_001388067.1" HGNC:31499 MIR1-1 microRNA 1-1 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-1-1 MIRN1-1 MicroRNA MIR1/206 family 1696 2004-04-23 2008-12-18 2019-01-18 406904 ENSG00000199017 uc011aak.3 NR_029780 MGI:2676869 RGD:9685084 609326 MI0000651 HGNC:31499 HGNC:16159 MIR1-1HG MIR1-1 host gene non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 "dJ353C17.1|MIR133A2HG" MIR133A2 host gene C20orf166 chromosome 20 open reading frame 166 MicroRNA non-coding host genes 1688 2001-07-17 2014-10-02 2014-10-02 2023-03-15 128826 ENSG00000174407 OTTHUMG00000048000 AL449263 NR_171007 Q9H1L0 HGNC:16159 HGNC:31500 MIR1-2 microRNA 1-2 non-coding RNA RNA, micro Approved 18q11.2 18q11.2 hsa-mir-1-2 MIRN1-2 MicroRNA MIR1/206 family 1696 2004-04-23 2008-12-18 2019-01-18 406905 ENSG00000284453 uc021uic.2 NR_029662 MGI:3618746 RGD:2325528 610252 MI0000437 HGNC:31500 @@ -18666,7 +18668,7 @@ HGNC:31511 MIR128-2 microRNA 128-2 non-coding RNA RNA, micro Approved 3p22.3 03p HGNC:31512 MIR129-1 microRNA 129-1 non-coding RNA RNA, micro Approved 7q32.1 07q32.1 hsa-mir-129-1 MIRN129-1 MicroRNA MIR129 family 1756 2004-04-23 2008-12-18 2019-01-30 406917 ENSG00000207705 uc011koi.3 NR_029596 MGI:2676815 RGD:2325456 MI0000252 HGNC:31512 HGNC:31513 MIR129-2 microRNA 129-2 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-129-2 MIRN129-2 MicroRNA MIR129 family 1756 2004-04-23 2008-12-18 2019-01-30 406918 ENSG00000199077 uc001mxo.2 NR_029697 MGI:3618711 RGD:2325612 MI0000473 HGNC:31513 HGNC:31514 MIR130A microRNA 130a non-coding RNA RNA, micro Approved 11q12.1 11q12.1 hsa-mir-130a MIRN130A MicroRNA MIR130 family 1713 2004-04-23 2008-12-18 2019-01-30 406919 ENSG00000208009 uc001nku.1 NR_029673 MGI:2676816 RGD:2325385 610175 MI0000448 HGNC:31514 -HGNC:55966 MIR130AHG MIR130A host gene non-coding RNA RNA, long non-coding Approved 11q12.1 11q12.1 MicroRNA non-coding host genes 1688 2021-11-11 2021-11-11 123466203 ENSG00000254602 +HGNC:55966 MIR130AHG MIR130A host gene non-coding RNA RNA, long non-coding Approved 11q12.1 11q12.1 MicroRNA non-coding host genes 1688 2021-11-11 2021-11-11 123466203 ENSG00000254602 NR_186232 HGNC:31515 MIR130B microRNA 130b non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-130b MIRN130B MicroRNA MIR130 family 1713 2004-04-23 2008-12-18 2019-01-30 406920 ENSG00000283871 uc011aii.1 NR_029845 MGI:3618716 RGD:2325573 613682 MI0000748 HGNC:31515 HGNC:31516 MIR132 microRNA 132 non-coding RNA RNA, micro Approved 17p13.3 17p13.3 hsa-mir-132 MIRN132 MicroRNA MIR132/212 family 1714 2004-04-23 2008-12-18 2019-01-18 406921 ENSG00000267200 uc010vqt.1 NR_029674 MGI:2676817 RGD:2325572 610016 MI0000449 HGNC:31516 HGNC:31517 MIR133A1 microRNA 133a-1 non-coding RNA RNA, micro Approved 18q11.2 18q11.2 hsa-mir-133a-1 MIRN133A1 MicroRNA MIR133 family 1708 2004-04-23 2008-12-18 2019-01-30 406922 ENSG00000283927 uc021uib.1 NR_029675 MGI:2676818 RGD:2325571 610254 MI0000450 HGNC:31517 @@ -18810,7 +18812,7 @@ HGNC:32051 MIR329-2 microRNA 329-2 non-coding RNA RNA, micro Approved 14q32.31 1 HGNC:31771 MIR330 microRNA 330 non-coding RNA RNA, micro Approved 19q13.32 19q13.32 hsa-mir-330 MIRN330 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442902 ENSG00000284544 uc002pcr.1 NR_029886 MGI:3619345 RGD:2325620 MI0000803 HGNC:31771 HGNC:31772 MIR331 microRNA 331 non-coding RNA RNA, micro Approved 12q22 12q22 hsa-mir-331 MIRN331 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442903 ENSG00000199172 uc001tea.2 NR_029895 MGI:3619347 RGD:2325619 MI0000812 HGNC:31772 HGNC:31773 MIR335 microRNA 335 non-coding RNA RNA, micro Approved 7q32.2 07q32.2 hsa-mir-335 MIRN335 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442904 ENSG00000199043 uc011kpi.2 NR_029899 MGI:3619348 611768 MI0000816 HGNC:31773 -HGNC:31774 MIR337 microRNA 337 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-337 MIRN337 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442905 ENSG00000199151 uc010txi.3 NR_029889 MGI:3619351 RGD:2325618 MI0000806 HGNC:31774 +HGNC:31774 MIR337 microRNA 337 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-337 MIRN337 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442905 ENSG00000199151 uc010txi.3 NR_029889 MGI:3619351 RGD:2325618 620408 MI0000806 HGNC:31774 HGNC:31775 MIR338 microRNA 338 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-338 MIRN338 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-18 442906 ENSG00000283604 NR_029897 20300657 MGI:3619352 614059 MI0000814 HGNC:31775 HGNC:31776 MIR339 microRNA 339 non-coding RNA RNA, micro Approved 7p22.3 07p22.3 hsa-mir-339 MIRN339 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442907 ENSG00000199023 uc011jvv.2 NR_029898 MGI:3619354 RGD:2325466 615977 MI0000815 HGNC:31776 HGNC:31777 MIR340 microRNA 340 non-coding RNA RNA, micro Approved 5q35.3 05q35.3 hsa-mir-340 MIRN340 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442908 ENSG00000198995 uc003mln.4 NR_029885 MGI:3619355 RGD:14398588 MI0000802 HGNC:31777 @@ -18911,7 +18913,7 @@ HGNC:38223 MIR500B microRNA 500b non-coding RNA RNA, micro Approved Xp11.23 Xp11 HGNC:32135 MIR501 microRNA 501 non-coding RNA RNA, micro Approved Xp11.23 Xp11.23 hsa-mir-501 MIRN501 MicroRNA MIR500 family 1773 2005-07-15 2008-12-18 2019-01-31 574503 ENSG00000211538 uc022bwi.1 NR_030225 MGI:3629949 MI0003185 HGNC:32135 HGNC:32136 MIR502 microRNA 502 non-coding RNA RNA, micro Approved Xp11.23 Xp11.23 hsa-mir-502 MIRN502 MicroRNA MIR500 family 1773 2005-07-15 2008-12-18 2015-02-03 574504 ENSG00000272080 uc022bwl.1 NR_030226 RGD:2325495 300893 MI0003186 HGNC:32136 HGNC:32138 MIR503 microRNA 503 non-coding RNA RNA, micro Approved Xq26.3 Xq26.3 hsa-mir-503 MIRN503 MicroRNA MIR15/16 family 1737 2005-07-15 2008-12-18 2019-01-24 574506 ENSG00000208005 uc011mvn.2 NR_030228 22072795 MGI:3619428 RGD:2325516 300865 MI0003188 HGNC:32138 -HGNC:28258 MIR503HG MIR503 host gene non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 "MGC16121|H19X" H19 X-linked co-expressed lncRNA MIR503 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2013-05-17 2015-02-20 2017-07-05 84848 ENSG00000223749 OTTHUMG00000022455 NR_024607 "24463510|27023770" MIR503HG HGNC:28258 +HGNC:28258 MIR503HG MIR503 host gene non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 "MGC16121|H19X" H19 X-linked co-expressed lncRNA MIR503 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2013-05-17 2015-02-20 2023-06-09 84848 ENSG00000223749 OTTHUMG00000022455 NR_024607 "24463510|27023770" MIR503HG HGNC:28258 HGNC:32139 MIR504 microRNA 504 non-coding RNA RNA, micro Approved Xq26.3 Xq26.3 hsa-mir-504 MIRN504 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-08 574507 ENSG00000207800 uc022cfa.2 NR_030229 MGI:3718543 RGD:2325482 MI0003189 HGNC:32139 HGNC:32140 MIR505 microRNA 505 non-coding RNA RNA, micro Approved Xq27.1 Xq27.1 hsa-mir-505 MIRN505 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-08 574508 ENSG00000207633 uc022cfe.2 NR_030230 25449503 MGI:3629955 301053 MI0003190 HGNC:32140 HGNC:32143 MIR506 microRNA 506 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-506 MIRN506 MicroRNA MIR506 family 1788 2005-07-15 2008-12-18 2014-11-19 574511 ENSG00000207731 uc022cfu.1 NR_030233 300877 MI0003193 HGNC:32143 @@ -19056,7 +19058,7 @@ HGNC:52006 MIR548XHG MIR548X host gene non-coding RNA RNA, long non-coding Appro HGNC:38980 MIR548Y microRNA 548y non-coding RNA RNA, micro Approved 14q21.3 14q21.3 hsa-mir-548y MicroRNA MIR548 family 1806 2010-09-15 2015-07-22 100500919 ENSG00000263945 uc021rsn.1 NR_037503 MI0016595 HGNC:38980 HGNC:38929 MIR548Z microRNA 548z non-coding RNA RNA, micro Approved 12q14.2 12q14.2 hsa-mir-548z MicroRNA MIR548 family 1806 2010-09-15 2016-11-16 100500856 ENSG00000266016 NR_037515 MI0016688 HGNC:38929 HGNC:32803 MIR549A microRNA 549a non-coding RNA RNA, micro Approved 15q25.1 15q25.1 hsa-mir-549 "MIRN549|MIR549" microRNA 549 MicroRNAs 476 2006-05-16 2014-03-17 2014-03-17 2019-02-13 693132 ENSG00000208003 NR_030393 MI0003679 HGNC:32803 -HGNC:32804 MIR550A1 microRNA 550a-1 non-coding RNA RNA, micro Approved 7p14.3 07p14.3 hsa-mir-550-1 "MIRN550-1|MIR550-1" microRNA 550-1 MicroRNA MIR550 family 1800 2006-05-16 2010-09-13 2010-09-13 2014-11-19 693133 ENSG00000207771 uc022abd.1 NR_030319 MI0003600 HGNC:32804 +HGNC:32804 MIR550A1 microRNA 550a-1 non-coding RNA RNA, micro Approved 7p14.3 07p14.3 hsa-mir-550-1 "MIRN550-1|MIR550-1" microRNA 550-1 MicroRNA MIR550 family 1800 2006-05-16 2010-09-13 2010-09-13 2023-06-08 693133 ENSG00000207771 uc022abd.1 NR_030319 MI0003600 HGNC:32804 HGNC:32805 MIR550A2 microRNA 550a-2 non-coding RNA RNA, micro Approved 7p14.3 07p14.3 "hsa-mir-550-2|hsa-mir-550a-2" "MIRN550-2|MIR550-2" microRNA 550-2 MicroRNA MIR550 family 1800 2006-05-16 2010-09-13 2010-09-13 2014-11-19 693134 ENSG00000207573 uc022abm.1 NR_030320 MI0003601 HGNC:32805 HGNC:41870 MIR550A3 microRNA 550a-3 non-coding RNA RNA, micro Approved 7p14.3 07p14.3 hsa-mir-550a-3 MicroRNA MIR550 family 1800 2011-05-02 2016-11-16 100616354 ENSG00000212024 uc022aay.1 NR_039600 MI0003762 HGNC:41870 HGNC:38992 MIR550B1 microRNA 550b-1 non-coding RNA RNA, micro Approved 7p14.3 07p14.3 hsa-mir-550b-1 MicroRNA MIR550 family 1800 2010-09-15 2016-11-16 100500883 ENSG00000283237 NR_037513 MI0016686 HGNC:38992 @@ -20569,8 +20571,8 @@ HGNC:27000 MISP mitotic spindle positioning protein-coding gene gene with protei HGNC:26963 MISP3 MISP family member 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 MicroRNA protein coding host genes 1691 2016-07-08 2023-01-20 113230 ENSG00000141854 OTTHUMG00000181994 NM_001291291 CCDS77246 Q96FF7 23509069 MGI:1917384 RGD:1310262 HGNC:26963 "ENST00000587086.3|NM_001291291.2" HGNC:56733 MITA1 metabolism induced tumor activator 1 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 Metabolism-induced tumor activator 1 Long non-coding RNAs with non-systematic symbols 1992 2023-05-11 2023-05-11 105375914 ENSG00000285744 XR_001745965 30839115 HGNC:25207 MITD1 microtubule interacting and trafficking domain containing 1 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 LOC129531 MIT, microtubule interacting and transport, domain containing 1 2006-07-14 2015-11-05 2023-01-20 129531 ENSG00000158411 OTTHUMG00000130638 uc002szs.2 BC018453 NM_138798 CCDS2040 Q8WV92 16730941 MGI:1916278 RGD:1307700 HGNC:25207 "ENST00000289359.6|NM_138798.3" -HGNC:7105 MITF melanocyte inducing transcription factor protein-coding gene gene with protein product Approved 3p13 03p13 "MI|bHLHe32" homolog of mouse microphthalmia "WS2A|WS2" "Waardenburg syndrome, type 2A|microphthalmia-associated transcription factor|melanogenesis associated transcription factor" Basic helix-loop-helix proteins 420 1993-10-27 2018-09-27 2023-03-15 4286 ENSG00000187098 OTTHUMG00000149921 uc003dof.4 NM_198159 "CCDS93308|CCDS87108|CCDS46865|CCDS2913|CCDS46866|CCDS54607|CCDS74962|CCDS43107|CCDS43106" O75030 "8069297|7874167|7951321" MGI:104554 RGD:3092 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MITF|LRG_776|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_776.xml" MITF 156845 123243 HGNC:7105 "ENST00000352241.9|NM_001354604.2" HGNC:7105 -HGNC:31136 MIX23 mitochondrial matrix import factor 23 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 FLJ33273 CCDC58 coiled-coil domain containing 58 2006-01-17 2020-10-30 2020-10-30 2023-01-20 131076 ENSG00000160124 OTTHUMG00000159490 uc003eey.4 AK090592 NM_001017928 "CCDS33838|CCDS77802" Q4VC31 32826315 MGI:2146423 RGD:1564582 HGNC:31136 "ENST00000291458.9|NM_001017928.4" +HGNC:7105 MITF melanocyte inducing transcription factor protein-coding gene gene with protein product Approved 3p13 03p13 "MI|bHLHe32" homolog of mouse microphthalmia "WS2A|WS2" "Waardenburg syndrome, type 2A|microphthalmia-associated transcription factor|melanogenesis associated transcription factor" Basic helix-loop-helix proteins 420 1993-10-27 2018-09-27 2023-03-15 4286 ENSG00000187098 OTTHUMG00000149921 uc003dof.4 NM_198159 "CCDS2913|CCDS74962|CCDS46866|CCDS46865|CCDS87108|CCDS54607|CCDS43107|CCDS43106|CCDS93308" O75030 "8069297|7874167|7951321" MGI:104554 RGD:3092 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MITF|LRG_776|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_776.xml" MITF 156845 123243 HGNC:7105 "ENST00000352241.9|NM_001354604.2" HGNC:7105 +HGNC:31136 MIX23 mitochondrial matrix import factor 23 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 FLJ33273 CCDC58 coiled-coil domain containing 58 2006-01-17 2020-10-30 2020-10-30 2023-01-20 131076 ENSG00000160124 OTTHUMG00000159490 uc003eey.4 AK090592 NM_001017928 "CCDS77802|CCDS33838" Q4VC31 32826315 MGI:2146423 RGD:1564582 HGNC:31136 "ENST00000291458.9|NM_001017928.4" HGNC:32457 MIX23P1 MIX23 pseudogene 1 pseudogene pseudogene Approved 18p11.22 18p11.22 CCDC58P1 coiled-coil domain containing 58 pseudogene 1 2006-01-17 2020-10-30 2020-10-30 2020-10-30 645859 ENSG00000264311 OTTHUMG00000178563 AP001180 NG_009486 PGOHUM00000294582 HGNC:32457 HGNC:45025 MIX23P2 MIX23 pseudogene 2 pseudogene pseudogene Approved 10q11.23 10q11.23 CCDC58P2 coiled-coil domain containing 58 pseudogene 2 2013-01-08 2020-10-30 2020-10-30 2020-10-30 100287708 ENSG00000236944 OTTHUMG00000018242 NG_029973 PGOHUM00000238492 HGNC:45025 HGNC:45026 MIX23P3 MIX23 pseudogene 3 pseudogene pseudogene Approved 18p11.21 18p11.21 CCDC58P3 coiled-coil domain containing 58 pseudogene 3 2013-01-08 2020-10-30 2020-10-30 2020-10-30 732448 ENSG00000267076 OTTHUMG00000180719 NG_030064 PGOHUM00000234999 HGNC:45026 @@ -20584,10 +20586,10 @@ HGNC:7109 MKLN1 muskelin 1 protein-coding gene gene with protein product Approve HGNC:40374 MKLN1-AS MKLN1 antisense RNA non-coding RNA RNA, long non-coding Approved 7q32.3 07q32.3 MKLN1-AS2 MKLN1 antisense RNA 2 Antisense RNAs 1987 2013-07-23 2013-10-10 2013-10-10 2014-11-18 100506881 ENSG00000236753 OTTHUMG00000154998 "AK054623|DB039005" NR_125364 MKLN1-AS HGNC:40374 HGNC:7110 MKNK1 MAPK interacting serine/threonine kinase 1 protein-coding gene gene with protein product Approved 1p33 01p33 MNK1 MAP kinase interacting serine/threonine kinase 1 MAPK activated protein kinases 1156 1999-03-04 2019-04-12 2023-01-20 8569 ENSG00000079277 OTTHUMG00000007983 uc001cqb.5 AB000409 NM_003684 "CCDS30705|CCDS44134|CCDS538" Q9BUB5 9155018 MGI:894316 RGD:1559603 606724 objectId:2104 HGNC:7110 "ENST00000371945.10|NM_001135553.4" HGNC:44129 MKNK1-AS1 MKNK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 MKNK1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507423 ENSG00000269956 OTTHUMG00000184075 uc021onb.1 AK097731 NR_038403 MKNK1-AS1 HGNC:44129 -HGNC:7111 MKNK2 MAPK interacting serine/threonine kinase 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MNK2 Putative map kinase interacting kinase GPRK7 "G protein-coupled receptor kinase 7|MAP kinase interacting serine/threonine kinase 2" MAPK activated protein kinases 1156 2000-02-29 2019-04-12 2023-01-20 2872 ENSG00000099875 OTTHUMG00000180020 uc002lus.3 AF125532 NM_199054 "CCDS12079|CCDS12080" Q9HBH9 11013076 MGI:894279 RGD:1305728 605069 objectId:2105 HGNC:7111 "ENST00000250896.9|NM_199054.3" +HGNC:7111 MKNK2 MAPK interacting serine/threonine kinase 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MNK2 Putative map kinase interacting kinase GPRK7 "G protein-coupled receptor kinase 7|MAP kinase interacting serine/threonine kinase 2" MAPK activated protein kinases 1156 2000-02-29 2019-04-12 2023-01-20 2872 ENSG00000099875 OTTHUMG00000180020 uc002lus.3 AF125532 NM_199054 "CCDS12080|CCDS12079" Q9HBH9 11013076 MGI:894279 RGD:1305728 605069 objectId:2105 HGNC:7111 "ENST00000250896.9|NM_199054.3" HGNC:44970 MKNK2P1 MAP kinase interacting serine/threonine kinase 2 pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 2012-12-20 2012-12-20 389948 ENSG00000233533 OTTHUMG00000017966 NG_022142 PGOHUM00000238408 HGNC:44970 -HGNC:7112 MKRN1 makorin ring finger protein 1 protein-coding gene gene with protein product Approved 7q34 07q34 RNF61 Ring finger proteins 58 1999-10-19 2008-08-13 2023-01-20 23608 ENSG00000133606 OTTHUMG00000157412 uc003vvt.2 AF192784 NM_013446 "CCDS47725|CCDS5860" Q9UHC7 10843807 MGI:1859353 RGD:1303251 607754 2.3.2.27 HGNC:7112 "ENST00000255977.7|NM_013446.4" -HGNC:7113 MKRN2 makorin ring finger protein 2 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "RNF62|HSPC070" Ring finger proteins 58 1999-10-19 2008-08-13 2023-01-20 23609 ENSG00000075975 OTTHUMG00000155371 uc003bxd.5 NM_014160 "CCDS63545|CCDS33702" Q9H000 11597136 MGI:1914277 RGD:1310618 608426 470672 HGNC:7113 "ENST00000170447.12|NM_014160.5" +HGNC:7112 MKRN1 makorin ring finger protein 1 protein-coding gene gene with protein product Approved 7q34 07q34 RNF61 Ring finger proteins 58 1999-10-19 2008-08-13 2023-01-20 23608 ENSG00000133606 OTTHUMG00000157412 uc003vvt.2 AF192784 NM_013446 "CCDS5860|CCDS47725" Q9UHC7 10843807 MGI:1859353 RGD:1303251 607754 2.3.2.27 HGNC:7112 "ENST00000255977.7|NM_013446.4" +HGNC:7113 MKRN2 makorin ring finger protein 2 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "RNF62|HSPC070" Ring finger proteins 58 1999-10-19 2008-08-13 2023-01-20 23609 ENSG00000075975 OTTHUMG00000155371 uc003bxd.5 NM_014160 "CCDS33702|CCDS63545" Q9H000 11597136 MGI:1914277 RGD:1310618 608426 470672 HGNC:7113 "ENST00000170447.12|NM_014160.5" HGNC:40375 MKRN2OS MKRN2 opposite strand protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "MKRN2-AS1|C3orf83" "MKRN2 antisense RNA 1|chromosome 3 open reading frame 83" 2011-07-28 2014-05-22 2014-05-22 2023-01-20 100129480 ENSG00000225526 OTTHUMG00000155368 NM_001195279 CCDS58816 H3BPM6 MGI:1917541 RGD:2320714 HGNC:40375 "ENST00000564146.4|NM_001195279.2" HGNC:7114 MKRN3 makorin ring finger protein 3 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "RNF63|ZFP127|MGC88288" zinc finger protein 127 "ZNF127|D15S9" Ring finger proteins 58 1992-11-06 2008-08-13 2023-01-20 7681 ENSG00000179455 OTTHUMG00000129160 uc001ywh.5 U19107 NM_005664 CCDS10013 Q13064 10196367 MGI:2181178 RGD:1311197 LRG_1045|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1045.xml 603856 360230 HGNC:7114 "ENST00000314520.6|NM_005664.4" HGNC:7114 HGNC:7115 MKRN4P makorin ring finger protein 4, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 "ZNF-Xp|RNF64" "ZNF127L1|MKRN4|MKRNP5" "makorin, ring finger protein, 4|makorin ring finger protein pseudogene 5" Ring finger proteins 58 1992-11-06 2010-02-04 2010-02-04 2021-10-07 7682 ENSG00000238222 OTTHUMG00000024109 U41315 NG_004713 Q13434 HGNC:7115 @@ -20603,29 +20605,29 @@ HGNC:7124 MLANA melan-A protein-coding gene gene with protein product Approved 9 HGNC:17082 MLC1 modulator of VRAC current 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "MLC|KIAA0027|LVM|VL" megalencephalic leukoencephalopathy with subcortical cysts 1 2002-04-30 2019-03-14 2023-01-20 23209 ENSG00000100427 OTTHUMG00000150236 uc003bjh.2 D25217 NM_015166 CCDS14083 Q15049 "30076890|7584026|7584028|26908604" MGI:2157910 RGD:1308552 605908 123257 HGNC:17082 "ENST00000311597.10|NM_015166.4" HGNC:17082 HGNC:28973 MLEC malectin protein-coding gene gene with protein product Approved 12q24.31 12q24.31 oligosaccharyltransferase complex subunit (non-catalytic) KIAA0152 KIAA0152 2005-01-17 2008-11-05 2008-11-05 2023-01-20 9761 ENSG00000110917 OTTHUMG00000169187 uc001tyy.2 BC000371 NM_014730 "CCDS76609|CCDS9206" Q14165 "18524852|22988243" MGI:1924015 RGD:1307736 613802 HGNC:28973 "ENST00000228506.8|NM_014730.4" HGNC:51122 MLECP1 malectin pseudogene 1 pseudogene pseudogene Approved 18q12.3 18q12.3 2014-07-30 2014-07-30 106480317 ENSG00000277899 OTTHUMG00000187945 NG_044402 PGOHUM00000294773 HGNC:51122 -HGNC:7125 MLF1 myeloid leukemia factor 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 1994-08-29 2023-01-20 4291 ENSG00000178053 OTTHUMG00000158775 uc003fcb.4 L49054 NM_022443 "CCDS56288|CCDS46945|CCDS93416|CCDS93415|CCDS93414|CCDS93417|CCDS93413|CCDS56287|CCDS3182" P58340 "8570204|28137643" MGI:1341819 RGD:1306854 LRG_1388|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1388.xml MLF1 601402 HGNC:7125 "ENST00000466246.7|NM_001369783.1" +HGNC:7125 MLF1 myeloid leukemia factor 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 1994-08-29 2023-01-20 4291 ENSG00000178053 OTTHUMG00000158775 uc003fcb.4 L49054 NM_022443 "CCDS56288|CCDS93416|CCDS3182|CCDS93414|CCDS93413|CCDS93415|CCDS93417|CCDS56287|CCDS46945" P58340 "8570204|28137643" MGI:1341819 RGD:1306854 LRG_1388|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1388.xml MLF1 601402 HGNC:7125 "ENST00000466246.7|NM_001369783.1" HGNC:55620 MLF1-DT MLF1 divergent transcript non-coding RNA RNA, long non-coding Approved 3q25.32 03q25.32 Divergent transcripts 1990 2021-06-21 2021-06-21 100996447 ENSG00000243150 NR_104147 HGNC:7126 MLF2 myeloid leukemia factor 2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 NTN4 1999-06-02 2023-01-20 8079 ENSG00000089693 OTTHUMG00000168717 uc009zey.2 U57342 NM_001382225 CCDS8559 Q15773 8661158 MGI:1353554 RGD:1306294 601401 HGNC:7126 "ENST00000203630.10|NM_001382226.1" -HGNC:7127 MLH1 mutL homolog 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "HNPCC|FCC2|HNPCC2|MLH-1" COCA2 "mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)|mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)" MutL homologs 1027 1993-11-24 2013-09-12 2023-01-20 4292 ENSG00000076242 OTTHUMG00000130797 uc003cgl.4 U07418 NM_000249 "CCDS54563|CCDS54562|CCDS2663" P40692 7903889 MGI:101938 RGD:620937 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MLH1|MLH1 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=MLH1|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/MLH1|LRG_216|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_216.xml" MLH1 120436 123263 HGNC:7127 "ENST00000231790.8|NM_000249.4" HGNC:7127 +HGNC:7127 MLH1 mutL homolog 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "HNPCC|FCC2|HNPCC2|MLH-1" COCA2 "mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)|mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)" MutL homologs 1027 1993-11-24 2013-09-12 2023-01-20 4292 ENSG00000076242 OTTHUMG00000130797 uc003cgl.4 U07418 NM_000249 "CCDS2663|CCDS54563|CCDS54562" P40692 7903889 MGI:101938 RGD:620937 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MLH1|MLH1 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=MLH1|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/MLH1|LRG_216|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_216.xml" MLH1 120436 123263 HGNC:7127 "ENST00000231790.8|NM_000249.4" HGNC:7127 HGNC:7128 MLH3 mutL homolog 3 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "mutL (E. coli) homolog 3|mutL homolog 3 (E. coli)" MutL homologs 1027 2000-01-07 2013-09-12 2023-01-20 27030 ENSG00000119684 OTTHUMG00000171766 uc001xre.2 AF195657 NM_014381 "CCDS32123|CCDS9837" Q9UHC1 10615123 MGI:1353455 RGD:1309227 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MLH3|MLH3 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=MLH3|LRG_217|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_217.xml" 604395 123269 HGNC:7128 "ENST00000355774.7|NM_001040108.2" HGNC:7128 -HGNC:21355 MLIP muscular LMNA interacting protein protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "MGC18257|CIP" "muscle-enriched A-type lamin interacting protein|cardiac ISL1-interacting protein" C6orf142 chromosome 6 open reading frame 142 2003-06-09 2011-04-29 2016-08-10 2023-01-20 90523 ENSG00000146147 OTTHUMG00000014891 uc003pcg.4 AK055530 NM_138569 "CCDS4954|CCDS64448|CCDS64449" Q5VWP3 21498514 MGI:1916892 RGD:1590513 614106 HGNC:21355 "ENST00000502396.6|NM_001281747.2" +HGNC:21355 MLIP muscular LMNA interacting protein protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "MGC18257|CIP" "muscle-enriched A-type lamin interacting protein|cardiac ISL1-interacting protein" C6orf142 chromosome 6 open reading frame 142 2003-06-09 2011-04-29 2016-08-10 2023-01-20 90523 ENSG00000146147 OTTHUMG00000014891 uc003pcg.4 AK055530 NM_138569 "CCDS64448|CCDS4954|CCDS64449" Q5VWP3 21498514 MGI:1916892 RGD:1590513 614106 HGNC:21355 "ENST00000502396.6|NM_001281747.2" HGNC:40963 MLIP-AS1 MLIP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 MLIP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-04 2012-08-15 2014-11-19 100873951 ENSG00000235050 OTTHUMG00000014889 uc063pdg.1 NR_046710 MLIP-AS1 HGNC:40963 HGNC:41461 MLIP-IT1 MLIP intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 MLIP intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-04 2015-02-25 2015-02-25 100874282 ENSG00000236996 OTTHUMG00000014890 uc031soy.1 NR_046832 MLIP-IT1 HGNC:41461 HGNC:26617 MLKL mixed lineage kinase domain like pseudokinase protein-coding gene gene with protein product Approved 16q23.1 16q23.1 FLJ34389 mixed lineage kinase domain-like 2005-02-10 2016-10-19 2023-01-20 197259 ENSG00000168404 OTTHUMG00000177356 uc002fdb.3 AK091708 NM_152649 "CCDS32487|CCDS45528" Q8NB16 26337687 MGI:1921818 RGD:1592221 615153 objectId:2106 HGNC:26617 "ENST00000308807.12|NM_152649.4" HGNC:7134 MLLT1 MLLT1 super elongation complex subunit protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ENL|LTG19|YEATS1" myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1 "Super elongation complex|YEATS domain containing" "1280|1283" 1993-02-02 2019-01-22 2023-01-20 4298 ENSG00000130382 OTTHUMG00000180757 uc002mek.4 NM_005934 CCDS12160 Q03111 MGI:1927238 RGD:1588581 MLLT1 159556 objectId:3183 HGNC:7134 "ENST00000252674.9|NM_005934.4" -HGNC:7136 MLLT3 MLLT3 super elongation complex subunit protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "AF-9|AF9|YEATS3" myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3 "Super elongation complex|YEATS domain containing|MicroRNA protein coding host genes" "1280|1283|1691" 1993-04-08 2019-01-22 2023-01-20 4300 ENSG00000171843 OTTHUMG00000019650 uc003zoe.3 L13744 NM_004529 "CCDS69579|CCDS6494" P42568 "8506309|8414510" MGI:1917372 RGD:620940 MLLT3 159558 409859 HGNC:7136 "ENST00000380338.9|NM_004529.4" +HGNC:7136 MLLT3 MLLT3 super elongation complex subunit protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "AF-9|AF9|YEATS3" myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3 "Super elongation complex|YEATS domain containing|MicroRNA protein coding host genes" "1280|1283|1691" 1993-04-08 2019-01-22 2023-01-20 4300 ENSG00000171843 OTTHUMG00000019650 uc003zoe.3 L13744 NM_004529 "CCDS6494|CCDS69579" P42568 "8506309|8414510" MGI:1917372 RGD:620940 MLLT3 159558 409859 HGNC:7136 "ENST00000380338.9|NM_004529.4" HGNC:7138 MLLT6 MLLT6, PHD finger containing protein-coding gene gene with protein product Approved 17q12 17q12 "AF17|FLJ23480" "Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6|trithorax homolog" "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6|MLLT6, PHD finger domain containing" "PHD finger proteins|MicroRNA protein coding host genes" "88|1691" 1994-12-14 2017-05-12 2023-01-20 4302 ENSG00000275023 OTTHUMG00000188498 uc002hqi.5 NM_005937 CCDS11327 P55198 "8058765|21546577" MGI:1935145 RGD:1306689 MLLT6 600328 HGNC:7138 "ENST00000621332.5|NM_005937.4" -HGNC:16063 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor protein-coding gene gene with protein product Approved 10p12.31 10p12.31 AF10 "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10" PHD finger proteins 88 2001-07-16 2019-01-22 2023-03-15 8028 ENSG00000078403 OTTHUMG00000017799 uc001iqs.4 U13948 NM_001195626 "CCDS55707|CCDS55706|CCDS55708|CCDS7135" P55197 "7888665|26439302" MGI:1329038 RGD:1310874 MLLT10 602409 358705 HGNC:16063 "ENST00000307729.12|NM_001195626.3" +HGNC:16063 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor protein-coding gene gene with protein product Approved 10p12.31 10p12.31 AF10 "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10" PHD finger proteins 88 2001-07-16 2019-01-22 2023-03-15 8028 ENSG00000078403 OTTHUMG00000017799 uc001iqs.4 U13948 NM_001195626 "CCDS7135|CCDS55706|CCDS55708|CCDS55707" P55197 "7888665|26439302" MGI:1329038 RGD:1310874 MLLT10 602409 358705 HGNC:16063 "ENST00000307729.12|NM_001195626.3" HGNC:15794 MLLT10P1 MLLT10 pseudogene 1 pseudogene pseudogene Approved 20q11.21 20q11.21 bA348I14.3 MLLT10L "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10-like|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10-like|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 pseudogene 1|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10 pseudogene 1" 2001-09-17 2010-10-20 2019-01-22 2019-01-22 140678 ENSG00000238151 OTTHUMG00000032156 AL441988 NR_045115 PGOHUM00000247503 HGNC:15794 HGNC:39141 MLLT10P2 MLLT10 pseudogene 2 pseudogene pseudogene Approved 4q35.2 04q35.2 "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 pseudogene 2|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10 pseudogene 2" 2010-10-20 2019-01-22 2019-01-22 106480724 ENSG00000249462 OTTHUMG00000161001 NG_045070 PGOHUM00000245795 HGNC:39141 HGNC:16997 MLLT11 MLLT11 transcription factor 7 cofactor protein-coding gene gene with protein product Approved 1q21.3 01q21.3 AF1Q ALL1 fused gene from chromosome 1q "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11" 2005-05-23 2019-01-22 2023-01-20 10962 ENSG00000213190 OTTHUMG00000035160 uc001ewq.4 BC006471 NM_006818 CCDS982 Q13015 "7833468|26079538" MGI:1929671 RGD:1305525 MLLT11 604684 HGNC:16997 "ENST00000368921.5|NM_006818.4" -HGNC:7141 MLN motilin protein-coding gene gene with protein product Approved 6p21.31 06p21.31 prepromotilin Neuropeptides 1902 1988-08-05 2023-01-20 4295 ENSG00000096395 OTTHUMG00000014536 uc003off.2 NM_001040109 "CCDS47412|CCDS4786|CCDS54993" P12872 RGD:1642907 158270 ligandId:5376 HGNC:7141 "ENST00000430124.7|NM_002418.3" +HGNC:7141 MLN motilin protein-coding gene gene with protein product Approved 6p21.31 06p21.31 prepromotilin Neuropeptides 1902 1988-08-05 2023-01-20 4295 ENSG00000096395 OTTHUMG00000014536 uc003off.2 NM_001040109 "CCDS4786|CCDS47412|CCDS54993" P12872 RGD:1642907 158270 ligandId:5376 HGNC:7141 "ENST00000430124.7|NM_002418.3" HGNC:4495 MLNR motilin receptor protein-coding gene gene with protein product Approved 13q14.2 13q14.2 GPR38 G protein-coupled receptor 38 Peptide receptors 220 1997-08-28 2004-05-28 2004-05-27 2023-01-20 2862 ENSG00000102539 OTTHUMG00000016909 uc010tgj.2 AF034632 NM_001507 CCDS9414 O43193 9441746 602885 objectId:297 HGNC:4495 "ENST00000218721.1|NM_001507.1" -HGNC:29643 MLPH melanophilin protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "l1Rk3|l(1)-3Rk|Slac-2a|ln|exophilin-3" MicroRNA protein coding host genes 1691 2004-01-09 2023-01-20 79083 ENSG00000115648 OTTHUMG00000133298 uc002vwt.5 AY358857 NM_024101 "CCDS63173|CCDS42836|CCDS63172|CCDS2518" Q9BV36 "11980908|11504925" MGI:2176380 RGD:1310733 "MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3)|http://structure.bmc.lu.se/idbase/MLPHbase/|LRG_83|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_83.xml" 606526 123279 HGNC:29643 "ENST00000264605.8|NM_024101.7" HGNC:29643 -HGNC:24825 MLST8 MTOR associated protein, LST8 homolog protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Lst8|Pop3|GBL|GbetaL" G protein beta subunit like MTOR associated protein, LST8 homolog (S. cerevisiae) "WD repeat domain containing|MTOR complex 1|MTOR complex 2" "362|1332|1333" 2009-05-29 2015-06-26 2023-01-20 64223 ENSG00000167965 OTTHUMG00000128827 uc002cpc.4 NM_022372 "CCDS10462|CCDS58409" Q9BVC4 25906254 MGI:1929514 RGD:69242 612190 HGNC:24825 "ENST00000569417.6|NM_022372.6" -HGNC:11645 MLX MAX dimerization protein MLX protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "MAD7|MXD7|bHLHd13" TCFL4 "transcription factor-like 4|MAX-like protein X" "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 1997-10-10 2005-02-11 2019-01-21 2023-01-20 6945 ENSG00000108788 OTTHUMG00000180246 uc002iag.4 AF213668 NM_170607 "CCDS45687|CCDS42341|CCDS11430" Q9UH92 8973301 MGI:108398 RGD:1308590 602976 360280 HGNC:11645 "ENST00000435881.7|NM_198204.2" +HGNC:29643 MLPH melanophilin protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "l1Rk3|l(1)-3Rk|Slac-2a|ln|exophilin-3" MicroRNA protein coding host genes 1691 2004-01-09 2023-01-20 79083 ENSG00000115648 OTTHUMG00000133298 uc002vwt.5 AY358857 NM_024101 "CCDS42836|CCDS63173|CCDS63172|CCDS2518" Q9BV36 "11980908|11504925" MGI:2176380 RGD:1310733 "MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3)|http://structure.bmc.lu.se/idbase/MLPHbase/|LRG_83|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_83.xml" 606526 123279 HGNC:29643 "ENST00000264605.8|NM_024101.7" HGNC:29643 +HGNC:24825 MLST8 MTOR associated protein, LST8 homolog protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Lst8|Pop3|GBL|GbetaL" G protein beta subunit like MTOR associated protein, LST8 homolog (S. cerevisiae) "WD repeat domain containing|MTOR complex 1|MTOR complex 2" "362|1332|1333" 2009-05-29 2015-06-26 2023-01-20 64223 ENSG00000167965 OTTHUMG00000128827 uc002cpc.4 NM_022372 "CCDS58409|CCDS10462" Q9BVC4 25906254 MGI:1929514 RGD:69242 612190 HGNC:24825 "ENST00000569417.6|NM_022372.6" +HGNC:11645 MLX MAX dimerization protein MLX protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "MAD7|MXD7|bHLHd13" TCFL4 "transcription factor-like 4|MAX-like protein X" "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 1997-10-10 2005-02-11 2019-01-21 2023-01-20 6945 ENSG00000108788 OTTHUMG00000180246 uc002iag.4 AF213668 NM_170607 "CCDS42341|CCDS11430|CCDS45687" Q9UH92 8973301 MGI:108398 RGD:1308590 602976 360280 HGNC:11645 "ENST00000435881.7|NM_198204.2" HGNC:17055 MLXIP MLX interacting protein protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "MONDOA|KIAA0867|MIR|bHLHe36" Basic helix-loop-helix proteins 420 2005-10-31 2023-01-20 22877 ENSG00000175727 OTTHUMG00000168953 uc001ubq.4 AB020674 NM_014938 CCDS73540 Q9HAP2 "10048485|11073985" MGI:2141183 RGD:1560774 608090 HGNC:17055 "ENST00000319080.12|NM_014938.6" -HGNC:12744 MLXIPL MLX interacting protein like protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WS-bHLH|MIO|CHREBP|MONDOB|bHLHd14" carbohydrate response element binding protein WBSCR14 "Williams Beuren syndrome chromosome region 14|MLX interacting protein-like" Basic helix-loop-helix proteins 420 2000-01-20 2005-10-31 2016-03-14 2023-03-15 51085 ENSG00000009950 OTTHUMG00000129995 uc003tyn.1 AK055029 NM_032951 "CCDS5554|CCDS5553|CCDS47606|CCDS47605" Q9NP71 9860302 MGI:1927999 RGD:620400 605678 HGNC:12744 "ENST00000313375.8|NM_032951.3" +HGNC:12744 MLXIPL MLX interacting protein like protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WS-bHLH|MIO|CHREBP|MONDOB|bHLHd14" carbohydrate response element binding protein WBSCR14 "Williams Beuren syndrome chromosome region 14|MLX interacting protein-like" Basic helix-loop-helix proteins 420 2000-01-20 2005-10-31 2016-03-14 2023-03-15 51085 ENSG00000009950 OTTHUMG00000129995 uc003tyn.1 AK055029 NM_032951 "CCDS5554|CCDS47605|CCDS47606|CCDS5553" Q9NP71 9860302 MGI:1927999 RGD:620400 605678 HGNC:12744 "ENST00000313375.8|NM_032951.3" HGNC:54600 MLXP1 MLX pseudogene 1 pseudogene pseudogene Approved 2q36.1 02q36.1 2019-10-16 2019-10-16 646696 ENSG00000226539 NG_021603 HGNC:7150 MLYCD malonyl-CoA decarboxylase protein-coding gene gene with protein product Approved 16q23.3 16q23.3 "MCD|hMCD" 2000-02-11 2023-01-20 23417 ENSG00000103150 OTTHUMG00000176654 uc002fgz.4 AF153679 NM_012213 CCDS42206 O95822 "10455107|9869665" MGI:1928485 RGD:620234 "MLYCD Allelic Variant Database|https://lsdb.hgu.mrc.ac.uk/home.php?select_db=MLYCD/|LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=MLYCD" 606761 123290 objectId:1275 4.1.1.9 HGNC:7150 "ENST00000262430.6|NM_012213.3" HGNC:7150 HGNC:18871 MMAA metabolism of cobalamin associated A protein-coding gene gene with protein product Approved 4q31.21 04q31.21 cblA "methylmalonic aciduria (cobalamin deficiency) type A|methylmalonic aciduria (cobalamin deficiency) cblA type" 2003-02-11 2018-08-02 2023-01-20 166785 ENSG00000151611 OTTHUMG00000161369 uc003ikh.5 AF524841 NM_001375644 CCDS3766 Q8IVH4 12438653 MGI:1923805 RGD:1305035 "MMAA database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MMAA|LRG_1301|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1301.xml" 607481 123294 3.6.-.- HGNC:18871 "ENST00000649156.2|NM_172250.3" HGNC:18871 @@ -20637,14 +20639,14 @@ HGNC:41087 MMADHC-DT MMADHC divergent transcript non-coding RNA RNA, long non-co HGNC:54996 MMADHCP1 MMADHC pseudogene 1 pseudogene pseudogene Approved Xq13.3 Xq13.3 2020-05-15 2020-05-15 100216356 ENSG00000237252 NG_009051 HGNC:54997 MMADHCP2 MMADHC pseudogene 2 pseudogene pseudogene Approved 11p13 11p13 2020-05-15 2020-05-15 100216355 ENSG00000254708 NG_009050 HGNC:7153 MMD monocyte to macrophage differentiation associated protein-coding gene gene with protein product Approved 17q22 17q22 "MMA|PAQR11" monocyte to macrophage differentiation-associated Progestin and adipoQ receptor family 930 1999-12-07 2016-04-04 2023-01-20 23531 ENSG00000108960 OTTHUMG00000177845 uc002iui.4 X85750 NM_012329 CCDS11586 Q15546 "7503749|16044242" MGI:1914718 RGD:1592079 604467 HGNC:7153 "ENST00000262065.8|NM_012329.3" -HGNC:30133 MMD2 monocyte to macrophage differentiation associated 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 PAQR10 monocyte to macrophage differentiation-associated 2 Progestin and adipoQ receptor family 930 2004-06-23 2016-03-14 2023-01-20 221938 ENSG00000136297 OTTHUMG00000151844 uc003snn.5 BC037881 NM_198403 "CCDS47530|CCDS59047|CCDS47529" Q8IY49 18769639 MGI:1922354 RGD:1306506 614581 HGNC:30133 "ENST00000401401.8|NM_198403.4" -HGNC:7154 MME membrane metalloendopeptidase protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "CALLA|CD10|NEP" "neutral endopeptidase|enkephalinase|neprilysin" "CD molecules|M13 metallopeptidases" "471|1439" 1989-05-15 2016-08-09 2023-01-20 4311 ENSG00000196549 OTTHUMG00000158455 uc010hvr.2 NM_000902 "CCDS87157|CCDS3172" P08473 MGI:97004 RGD:3098 120520 459043 M13.001 objectId:1611 CD10 3.4.24.11 HGNC:7154 "ENST00000360490.7|NM_007289.4" HGNC:7154 +HGNC:30133 MMD2 monocyte to macrophage differentiation associated 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 PAQR10 monocyte to macrophage differentiation-associated 2 Progestin and adipoQ receptor family 930 2004-06-23 2016-03-14 2023-01-20 221938 ENSG00000136297 OTTHUMG00000151844 uc003snn.5 BC037881 NM_198403 "CCDS59047|CCDS47529|CCDS47530" Q8IY49 18769639 MGI:1922354 RGD:1306506 614581 HGNC:30133 "ENST00000401401.8|NM_198403.4" +HGNC:7154 MME membrane metalloendopeptidase protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "CALLA|CD10|NEP" "neutral endopeptidase|enkephalinase|neprilysin" "CD molecules|M13 metallopeptidases" "471|1439" 1989-05-15 2016-08-09 2023-01-20 4311 ENSG00000196549 OTTHUMG00000158455 uc010hvr.2 NM_000902 "CCDS3172|CCDS87157" P08473 MGI:97004 RGD:3098 120520 459043 M13.001 objectId:1611 CD10 3.4.24.11 HGNC:7154 "ENST00000360490.7|NM_007289.4" HGNC:7154 HGNC:40376 MME-AS1 MME antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.2 03q25.2 MME antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100873918 ENSG00000240666 OTTHUMG00000158456 uc062pfa.1 MME-AS1 HGNC:14668 MMEL1 membrane metalloendopeptidase like 1 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "SEP|NL1|NL2|NEPII" "neprilysin 2|neprilysin-II" MMEL2 membrane metallo-endopeptidase-like 2 M13 metallopeptidases 1439 2001-02-28 2016-08-10 2023-01-20 79258 ENSG00000142606 OTTHUMG00000000846 uc001ajy.3 AF336981 NM_033467 CCDS30569 Q495T6 "11560781|18539150" MGI:1351603 RGD:1309299 618104 239881 M13.008 HGNC:14668 "ENST00000378412.8|NM_033467.4" HGNC:40695 MMEL1-AS1 MMEL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Antisense RNAs 1987 2019-08-16 2019-08-16 105378597 ENSG00000237058 OTTHUMG00000039631 NR_183343 HGNC:40695 HGNC:28100 MMGT1 membrane magnesium transporter 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 EMC5 ER membrane protein complex subunit 5 TMEM32 transmembrane protein 32 ER membrane protein complex subunits 1911 2004-07-28 2008-11-21 2008-11-21 2023-01-20 93380 ENSG00000169446 OTTHUMG00000022499 uc004ezi.2 AL157477 NM_173470 CCDS14653 Q8N4V1 "18057121|22119785" MGI:2384305 RGD:1566339 301098 HGNC:28100 "ENST00000305963.3|NM_173470.3" HGNC:7155 MMP1 matrix metallopeptidase 1 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 interstitial collagenase CLG matrix metalloproteinase 1 (interstitial collagenase) "Receptor ligands|M10 matrix metallopeptidases" "542|891" 1986-01-01 2015-02-23 2023-01-20 4312 ENSG00000196611 OTTHUMG00000048192 uc001phi.3 X54925 NM_002421 CCDS8322 P03956 "MGI:1933846|MGI:1933847" RGD:1307917 120353 306110 M10.001 objectId:1628 3.4.24.7 HGNC:7155 "ENST00000315274.7|NM_002421.4" -HGNC:7166 MMP2 matrix metallopeptidase 2 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 TBE-1 "CLG4|CLG4A" matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) M10 matrix metallopeptidases 891 1989-05-25 2015-02-23 2023-01-20 4313 ENSG00000087245 OTTHUMG00000133202 uc002ehz.5 NM_001127891 "CCDS76869|CCDS10752|CCDS45487" P08253 MGI:97009 RGD:621316 120360 123439 M10.003 ligandId:4470 3.4.24.24 HGNC:7166 "ENST00000219070.9|NM_004530.6" HGNC:7166 +HGNC:7166 MMP2 matrix metallopeptidase 2 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 TBE-1 "CLG4|CLG4A" matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) M10 matrix metallopeptidases 891 1989-05-25 2015-02-23 2023-01-20 4313 ENSG00000087245 OTTHUMG00000133202 uc002ehz.5 NM_001127891 "CCDS45487|CCDS76869|CCDS10752" P08253 MGI:97009 RGD:621316 120360 123439 M10.003 ligandId:4470 3.4.24.24 HGNC:7166 "ENST00000219070.9|NM_004530.6" HGNC:7166 HGNC:53142 MMP2-AS1 MMP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q12.2 16q12.2 ENST00000569037 Antisense RNAs 1987 2017-02-16 2017-02-16 107984884 ENSG00000260135 OTTHUMG00000176716 NR_147198 27816668 HGNC:53142 HGNC:7173 MMP3 matrix metallopeptidase 3 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 "STMY1|STMY" "matrix metalloproteinase 3 (stromelysin 1, progelatinase)|stromelysin 1" M10 matrix metallopeptidases 891 2001-06-22 2015-02-23 2023-01-20 4314 ENSG00000149968 OTTHUMG00000048254 uc001phj.2 X05232 NM_002422 CCDS8323 P08254 MGI:97010 RGD:621317 185250 M10.005 objectId:1630 3.4.24.17 HGNC:7173 "ENST00000299855.10|NM_002422.5" HGNC:7174 MMP7 matrix metallopeptidase 7 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 PUMP-1 matrilysin MPSL1 matrix metalloproteinase 7 (matrilysin, uterine) M10 matrix metallopeptidases 891 1991-07-15 2015-02-23 2023-01-20 4316 ENSG00000137673 OTTHUMG00000048193 uc001phb.4 Z11887 NM_002423 CCDS8317 P09237 8978768 MGI:103189 RGD:3100 178990 M10.008 objectId:1631 3.4.24.23 HGNC:7174 "ENST00000260227.5|NM_002423.5" @@ -20657,7 +20659,7 @@ HGNC:7159 MMP13 matrix metallopeptidase 13 protein-coding gene gene with protein HGNC:7160 MMP14 matrix metallopeptidase 14 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MT1-MMP "membrane type 1 metalloprotease|membrane type 1-matrix metalloproteinase" "matrix metalloproteinase 14 (membrane-inserted)|matrix metallopeptidase 14 (membrane-inserted)" M10 matrix metallopeptidases 891 1994-11-20 2015-12-16 2023-01-20 4323 ENSG00000157227 OTTHUMG00000028704 uc001whc.5 NM_004995 CCDS9577 P50281 8015608 MGI:101900 RGD:620198 600754 314731 M10.014 objectId:1638 HGNC:7160 "ENST00000311852.11|NM_004995.4" HGNC:7160 HGNC:7161 MMP15 matrix metallopeptidase 15 protein-coding gene gene with protein product Approved 16q21 16q21 "MT2-MMP|MTMMP2|SMCP-2" "matrix metalloproteinase 15 (membrane-inserted)|matrix metallopeptidase 15 (membrane-inserted)" M10 matrix metallopeptidases 891 1996-11-13 2015-12-04 2023-01-20 4324 ENSG00000102996 OTTHUMG00000133466 uc002ena.4 Z48482 NM_002428 CCDS10792 P51511 "9070935|9119382" MGI:109320 RGD:1308937 602261 M10.015 objectId:1639 HGNC:7161 "ENST00000219271.4|NM_002428.4" HGNC:7162 MMP16 matrix metallopeptidase 16 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "MT3-MMP|DKFZp761D112" C8orf57 "matrix metalloproteinase 16 (membrane-inserted)|chromosome 8 open reading frame 57|matrix metallopeptidase 16 (membrane-inserted)" M10 matrix metallopeptidases 891 1996-11-13 2015-12-16 2023-03-15 4325 ENSG00000156103 OTTHUMG00000163769 uc003yeb.5 D85511 NM_005941 CCDS6246 P51512 7559440 MGI:1276107 RGD:620199 602262 M10.016 objectId:1640 HGNC:7162 "ENST00000286614.11|NM_005941.5" -HGNC:7163 MMP17 matrix metallopeptidase 17 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 MT4-MMP "matrix metalloproteinase 17 (membrane-inserted)|matrix metallopeptidase 17 (membrane-inserted)" M10 matrix metallopeptidases 891 1996-11-13 2015-12-04 2023-01-20 4326 ENSG00000198598 OTTHUMG00000168050 uc001ujc.2 X89576 NM_016155 "CCDS91781|CCDS31927" Q9ULZ9 9878265 MGI:1346076 RGD:1311541 602285 M10.017 objectId:1641 HGNC:7163 "ENST00000360564.5|NM_016155.7" +HGNC:7163 MMP17 matrix metallopeptidase 17 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 MT4-MMP "matrix metalloproteinase 17 (membrane-inserted)|matrix metallopeptidase 17 (membrane-inserted)" M10 matrix metallopeptidases 891 1996-11-13 2015-12-04 2023-01-20 4326 ENSG00000198598 OTTHUMG00000168050 uc001ujc.2 X89576 NM_016155 "CCDS31927|CCDS91781" Q9ULZ9 9878265 MGI:1346076 RGD:1311541 602285 M10.017 objectId:1641 HGNC:7163 "ENST00000360564.5|NM_016155.7" HGNC:7165 MMP19 matrix metallopeptidase 19 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 RASI-1 MMP18 matrix metalloproteinase 19 M10 matrix metallopeptidases 891 1998-01-16 2005-08-08 2023-01-20 4327 ENSG00000123342 OTTHUMG00000170216 uc001sib.5 X92521 NM_002429 "CCDS8895|CCDS61146" Q99542 9232430 MGI:1927899 RGD:1311376 601807 467266 M10.021 objectId:1642 HGNC:7165 "ENST00000322569.9|NM_002429.6" HGNC:7165 HGNC:7167 MMP20 matrix metallopeptidase 20 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 enamelysin matrix metalloproteinase 20 (enamelysin) M10 matrix metallopeptidases 891 1999-07-23 2008-05-22 2023-01-20 9313 ENSG00000137674 OTTHUMG00000168081 uc001phc.3 Y12779 NM_004771 CCDS8318 O60882 9398237 MGI:1353466 RGD:1308730 604629 139176 M10.019 objectId:1643 HGNC:7167 "ENST00000260228.3|NM_004771.4" HGNC:7167 HGNC:56362 MMP20-AS1 MMP20 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q22.2 11q22.2 AP000851.1 Antisense RNAs 1987 2022-10-14 2022-10-14 101928477 ENSG00000256916 NR_183620 @@ -20670,56 +20672,56 @@ HGNC:14246 MMP25 matrix metallopeptidase 25 protein-coding gene gene with protei HGNC:51372 MMP25-AS1 MMP25 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2014-10-16 2014-10-16 100507419 ENSG00000261971 OTTHUMG00000177474 "BC026114|AK124978" NR_123723 MMP25-AS1 HGNC:51372 HGNC:14249 MMP26 matrix metallopeptidase 26 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "endometase|MGC126590|MGC126592" matrilysin 2 matrix metalloproteinase 26 M10 matrix metallopeptidases 891 2000-12-13 2005-08-08 2023-01-20 56547 ENSG00000167346 OTTHUMG00000066442 uc001lzv.4 AF230354 NM_021801 "CCDS7752|CCDS91424" Q9NRE1 "10801841|10824119" 605470 M10.029 objectId:1648 3.4.24.1 HGNC:14249 "ENST00000380390.6|NM_021801.5" HGNC:14250 MMP27 matrix metallopeptidase 27 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 matrix metalloprotease 27 matrix metalloproteinase 27 M10 matrix metallopeptidases 891 2000-12-13 2005-08-08 2023-01-20 64066 ENSG00000137675 OTTHUMG00000168099 uc001phd.2 AF195192 NM_022122 CCDS8319 Q9H306 10419448 MGI:3039232 RGD:1306642 618101 objectId:1649 HGNC:14250 "ENST00000260229.5|NM_022122.3" -HGNC:14366 MMP28 matrix metallopeptidase 28 protein-coding gene gene with protein product Approved 17q12 17q12 "MMP-25|MM28|EPILYSIN|MMP-28" matrix metalloproteinase 28 M10 matrix metallopeptidases 891 2001-01-09 2005-08-08 2023-01-20 79148 ENSG00000271447 OTTHUMG00000188387 uc032fbc.2 AF315683 NM_024302 "CCDS74036|CCDS76996|CCDS45651" Q9H239 "11121398|11255011" MGI:2153062 RGD:1311573 608417 M10.030 objectId:1650 HGNC:14366 "ENST00000605424.6|NM_024302.5" +HGNC:14366 MMP28 matrix metallopeptidase 28 protein-coding gene gene with protein product Approved 17q12 17q12 "MMP-25|MM28|EPILYSIN|MMP-28" matrix metalloproteinase 28 M10 matrix metallopeptidases 891 2001-01-09 2005-08-08 2023-01-20 79148 ENSG00000271447 OTTHUMG00000188387 uc032fbc.2 AF315683 NM_024302 "CCDS45651|CCDS76996|CCDS74036" Q9H239 "11121398|11255011" MGI:2153062 RGD:1311573 608417 M10.030 objectId:1650 HGNC:14366 "ENST00000605424.6|NM_024302.5" HGNC:7178 MMRN1 multimerin 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "ECM|EMILIN4|GPIa*" glycoprotein Ia* MMRN multimerin "EMI domain containing|C1q domain containing" "540|1641" 2000-01-12 2004-03-02 2004-03-02 2023-01-20 22915 ENSG00000138722 OTTHUMG00000130947 uc003hst.4 U27109 NM_007351 "CCDS93560|CCDS3635" Q13201 "7629143|10828608" MGI:1918195 RGD:1587248 LRG_634|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_634.xml 601456 HGNC:7178 "ENST00000264790.7|NM_007351.3" HGNC:7178 HGNC:19888 MMRN2 multimerin 2 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "EndoGlyx-1|FLJ13465" EMILIN3 elastin microfibril interfacer 3 "EMI domain containing|C1q domain containing" "540|1641" 2003-07-16 2004-03-02 2004-03-02 2023-01-20 79812 ENSG00000173269 OTTHUMG00000018663 uc001kea.4 AK023527 NM_024756 CCDS7379 Q9H8L6 11559704 MGI:2385618 RGD:1311461 LRG_649|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_649.xml 608925 HGNC:19888 "ENST00000372027.10|NM_024756.3" -HGNC:13824 MMS19 MMS19 homolog, cytosolic iron-sulfur assembly component protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "MET18|hMMS19|CIAO4" MET18 homolog (S. cerevisiae) MMS19L MMS19 nucleotide excision repair homolog (S. cerevisiae) "Cytosolic iron-sulfur assembly components|Nucleotide excision repair|Armadillo like helical domain containing" "1028|1269|1492" 2000-12-21 2007-08-15 2015-07-02 2023-01-20 64210 ENSG00000155229 OTTHUMG00000018857 uc001knt.5 AF007151 NM_001289403 "CCDS73177|CCDS7464|CCDS81493" Q96T76 "11071939|22678362|22678361" MGI:1919449 RGD:727890 614777 HGNC:13824 "ENST00000438925.7|NM_022362.5" +HGNC:13824 MMS19 MMS19 homolog, cytosolic iron-sulfur assembly component protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "MET18|hMMS19|CIAO4" MET18 homolog (S. cerevisiae) MMS19L MMS19 nucleotide excision repair homolog (S. cerevisiae) "Cytosolic iron-sulfur assembly components|Nucleotide excision repair|Armadillo like helical domain containing" "1028|1269|1492" 2000-12-21 2007-08-15 2015-07-02 2023-01-20 64210 ENSG00000155229 OTTHUMG00000018857 uc001knt.5 AF007151 NM_001289403 "CCDS7464|CCDS73177|CCDS81493" Q96T76 "11071939|22678362|22678361" MGI:1919449 RGD:727890 614777 HGNC:13824 "ENST00000438925.7|NM_022362.5" HGNC:21475 MMS22L MMS22 like, DNA repair protein protein-coding gene gene with protein product Approved 6q16.1 06q16.1 dJ39B17.2 C6orf167 "chromosome 6 open reading frame 167|MMS22-like, DNA repair protein" 2003-11-26 2010-11-11 2015-11-23 2023-01-20 253714 ENSG00000146263 OTTHUMG00000015248 uc003ppb.3 NM_198468 CCDS5039 Q6ZRQ5 "21055983|21055984" MGI:2684980 RGD:1304693 615614 HGNC:21475 "ENST00000683635.1|NM_001350599.2" HGNC:7526 MMUT methylmalonyl-CoA mutase protein-coding gene gene with protein product Approved 6p12.3 06p12.3 MCM MUT methylmalonyl Coenzyme A mutase 2001-06-22 2018-10-18 2015-11-11 2023-01-20 4594 ENSG00000146085 OTTHUMG00000014814 uc003ozg.5 NM_000255 CCDS4924 P22033 "2907507|9503014" MGI:97239 RGD:1587662 MUT database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MUT 609058 123583 5.4.99.2 HGNC:7526 "ENST00000274813.4|NM_000255.4" HGNC:7526 HGNC:7180 MN1 MN1 proto-oncogene, transcriptional regulator protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "MGCR1-PEN|MGCR1" probable tumor suppressor protein MN1 MGCR "meningioma chromosome region|meningioma (disrupted in balanced translocation) 1" 1998-06-08 2016-06-13 2023-01-20 4330 ENSG00000169184 OTTHUMG00000150975 uc003adj.3 X82209 NM_002430 CCDS42998 Q10571 "7731706|12569362" MGI:1261813 RGD:1565571 MN1 156100 445669 HGNC:7180 "ENST00000302326.5|NM_002430.3" HGNC:7180 -HGNC:7181 MNAT1 MNAT1 component of CDK activating kinase protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "MAT1|RNF66" CDK-activating kinase assembly factor "menage a trois 1 (CAK assembly factor)|menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)|MNAT CDK-activating kinase assembly factor 1|MNAT1, CDK activating kinase assembly factor" "Ring finger proteins|Nucleotide excision repair|CDK activating kinase complex" "58|1269|1744" 1997-10-09 2019-01-25 2023-01-20 4331 ENSG00000020426 OTTHUMG00000152340 uc001xfd.4 X87843 NM_002431 "CCDS9750|CCDS53899" P51948 9465303 MGI:106207 RGD:628874 602659 HGNC:7181 "ENST00000261245.9|NM_002431.4" -HGNC:24839 MND1 meiotic nuclear divisions 1 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 GAJ meiotic nuclear divisions 1 homolog (S. cerevisiae) 2006-02-28 2015-06-26 2023-01-20 84057 ENSG00000121211 OTTHUMG00000161523 uc003ink.3 AY028916 NM_032117 "CCDS75202|CCDS3782" Q9BWT6 "11940665|16407260" MGI:1924165 RGD:1309007 611422 HGNC:24839 "ENST00000240488.8|NM_032117.4" +HGNC:7181 MNAT1 MNAT1 component of CDK activating kinase protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "MAT1|RNF66" CDK-activating kinase assembly factor "menage a trois 1 (CAK assembly factor)|menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)|MNAT CDK-activating kinase assembly factor 1|MNAT1, CDK activating kinase assembly factor" "Ring finger proteins|Nucleotide excision repair|CDK activating kinase complex" "58|1269|1744" 1997-10-09 2019-01-25 2023-01-20 4331 ENSG00000020426 OTTHUMG00000152340 uc001xfd.4 X87843 NM_002431 "CCDS53899|CCDS9750" P51948 9465303 MGI:106207 RGD:628874 602659 HGNC:7181 "ENST00000261245.9|NM_002431.4" +HGNC:24839 MND1 meiotic nuclear divisions 1 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 GAJ meiotic nuclear divisions 1 homolog (S. cerevisiae) 2006-02-28 2015-06-26 2023-01-20 84057 ENSG00000121211 OTTHUMG00000161523 uc003ink.3 AY028916 NM_032117 "CCDS3782|CCDS75202" Q9BWT6 "11940665|16407260" MGI:1924165 RGD:1309007 611422 HGNC:24839 "ENST00000240488.8|NM_032117.4" HGNC:56794 MND1P1 MND1 pseudogene 1 pseudogene pseudogene Approved 1p22.1 01p22.1 2023-04-19 2023-04-19 100127934 ENSG00000229052 NG_033051 PGOHUM00000296405 HGNC:7183 MNDA myeloid cell nuclear differentiation antigen protein-coding gene gene with protein product Approved 1q23.1 01q23.1 PYHIN3 "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 1993-06-29 2023-01-20 4332 ENSG00000163563 OTTHUMG00000022776 uc001fsz.2 BC032319 NM_002432 CCDS1177 P41218 "1644857|7512843|25665578" "MGI:96429|MGI:101847|MGI:3041120" RGD:1306089 159553 470674 objectId:2926 HGNC:7183 "ENST00000368141.5|NM_002432.3" HGNC:29636 MNS1 meiosis specific nuclear structural 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "FLJ11222|SPATA40" spermatogenesis associated 40 2005-07-20 2015-11-23 2023-01-20 55329 ENSG00000138587 OTTHUMG00000132034 uc002adr.2 AK002084 NM_018365 CCDS10158 Q8NEH6 "7625268|8032679" MGI:107933 RGD:1549718 610766 HGNC:29636 "ENST00000260453.4|NM_018365.4" HGNC:29636 HGNC:7188 MNT MAX network transcriptional repressor protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "ROX|MXD6|MAD6|bHLHd3|lncRNA-HAL" "myc antagonist|Max-interacting protein" "MAX binding protein|MNT, MAX dimerization protein" "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 1998-07-15 2013-11-15 2023-01-20 4335 ENSG00000070444 OTTHUMG00000090603 uc002fur.4 Y13444 NM_020310 CCDS11018 Q99583 9598315 MGI:109150 RGD:1308683 603039 HGNC:7188 "ENST00000174618.5|NM_020310.3" -HGNC:4979 MNX1 motor neuron and pancreas homeobox 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "HB9|HOXHB9|SCRA1" HLXB9 "homeo box HB9|homeobox HB9" HOXL subclass homeoboxes 518 1994-12-13 2007-08-09 2007-08-09 2023-01-20 3110 ENSG00000130675 OTTHUMG00000157181 uc064jri.1 AF107457 NM_001165255 "CCDS34788|CCDS55187" P50219 9843207 MGI:109160 RGD:1588091 142994 8555 138820 HGNC:4979 "ENST00000252971.11|NM_005515.4" HGNC:4979 +HGNC:4979 MNX1 motor neuron and pancreas homeobox 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "HB9|HOXHB9|SCRA1" HLXB9 "homeo box HB9|homeobox HB9" HOXL subclass homeoboxes 518 1994-12-13 2007-08-09 2007-08-09 2023-01-20 3110 ENSG00000130675 OTTHUMG00000157181 uc064jri.1 AF107457 NM_001165255 "CCDS55187|CCDS34788" P50219 9843207 MGI:109160 RGD:1588091 142994 8555 138820 HGNC:4979 "ENST00000252971.11|NM_005515.4" HGNC:4979 HGNC:48954 MNX1-AS1 MNX1 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 "CCAT5|LOC645249|MAYA" MST1/2-antagonizing lncRNA for YAP activation Antisense RNAs 1987 2013-07-23 2021-06-21 645249 ENSG00000243479 OTTHUMG00000188695 NR_038835 "25663692|27797375|28414551" MNX1-AS1 HGNC:48954 HGNC:40278 MNX1-AS2 MNX1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 ENST00000429228 Antisense RNAs 1987 2013-07-23 2017-02-16 105375606 ENSG00000235029 OTTHUMG00000187957 AI761375 NR_147077 27816668 MNX1-AS2 HGNC:40278 HGNC:16658 MOAP1 modulator of apoptosis 1 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "MAP-1|PNMA4" paraneoplastic Ma antigen family member 4 Paraneoplastic Ma antigens 671 2002-11-13 2023-01-20 64112 ENSG00000165943 OTTHUMG00000169184 uc001ybj.4 BC015044 NM_022151 CCDS9908 Q96BY2 11060313 MGI:1915555 RGD:1307230 609485 HGNC:16658 "ENST00000298894.5|NM_022151.5" HGNC:16015 MOB1A MOB kinase activator 1A protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "FLJ10788|MOB1|FLJ11595|Mob4B|Mats1" "C2orf6|MOBK1B|MOBKL1B" "chromosome 2 open reading frame 6|MOB1, Mps One Binder kinase activator-like 1B (yeast)|MOB1 Mps One Binder homolog A (yeast)" MOB kinase activators 647 2001-06-29 2011-09-27 2011-09-28 2023-01-20 55233 ENSG00000114978 OTTHUMG00000152833 uc002skh.5 NM_018221 CCDS46340 Q9H8S9 "11319234|20624913" MGI:2442631 RGD:1307014 609281 HGNC:16015 "ENST00000396049.5|NM_018221.5" HGNC:42638 MOB1AP1 MOB kinase activator 1A pseudogene 1 pseudogene pseudogene Approved 13q31.1 13q31.1 MOBKL1BP1 "MOB1, Mps One Binder kinase activator-like 1B (yeast) pseudogene 1|MOB1 Mps One Binder homolog A (yeast) pseudogene 1" 2011-08-10 2011-09-27 2011-10-19 2014-11-18 100873874 ENSG00000228241 OTTHUMG00000017158 NG_032520 PGOHUM00000248654 HGNC:42638 HGNC:42639 MOB1AP2 MOB kinase activator 1A pseudogene 2 pseudogene pseudogene Approved Xp21.1 Xp21.1 MOBKL1BP2 "MOB1, Mps One Binder kinase activator-like 1B (yeast) pseudogene 2|MOB1 Mps One Binder homolog A (yeast) pseudogene 2" 2011-08-10 2011-09-27 2011-10-19 2014-11-18 100873854 ENSG00000233810 OTTHUMG00000021358 NG_032521 PGOHUM00000241707 HGNC:42639 -HGNC:29801 MOB1B MOB kinase activator 1B protein-coding gene gene with protein product Approved 4q13.3 04q13.3 MOB4A Mob4A protein MOBKL1A "MOB1, Mps One Binder kinase activator-like 1A (yeast)|MOB1 Mps One Binder homolog B (yeast)" MOB kinase activators 647 2004-02-11 2011-09-27 2011-09-28 2023-01-20 92597 ENSG00000173542 OTTHUMG00000160844 uc003hfw.4 BC038112 NM_173468 "CCDS58903|CCDS34002" Q7L9L4 15067004 MGI:1915723 RGD:1305114 609282 HGNC:29801 "ENST00000309395.7|NM_173468.4" +HGNC:29801 MOB1B MOB kinase activator 1B protein-coding gene gene with protein product Approved 4q13.3 04q13.3 MOB4A Mob4A protein MOBKL1A "MOB1, Mps One Binder kinase activator-like 1A (yeast)|MOB1 Mps One Binder homolog B (yeast)" MOB kinase activators 647 2004-02-11 2011-09-27 2011-09-28 2023-01-20 92597 ENSG00000173542 OTTHUMG00000160844 uc003hfw.4 BC038112 NM_173468 "CCDS34002|CCDS58903" Q7L9L4 15067004 MGI:1915723 RGD:1305114 609282 HGNC:29801 "ENST00000309395.7|NM_173468.4" HGNC:24904 MOB2 MOB kinase activator 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 HCCA2 MOB2 Mps One Binder homolog (yeast) MOB kinase activators 647 2011-09-28 2023-01-20 81532 ENSG00000182208 OTTHUMG00000165545 uc010qwz.3 NM_053005 CCDS53591 Q70IA6 "11223154|15067004" MGI:1919891 RGD:1562983 611969 HGNC:24904 "ENST00000329957.7|NM_001172223.3" HGNC:29802 MOB3A MOB kinase activator 3A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MOB1C|MOB-LAK|moblak" MOB LAK MOBKL2A MOB1, Mps One Binder kinase activator-like 2A (yeast) MOB kinase activators 647 2004-02-11 2011-09-28 2011-09-28 2023-01-20 126308 ENSG00000172081 OTTHUMG00000180353 uc002luv.4 AK095471 NM_130807 CCDS12081 Q96BX8 12477932 MGI:3050117 RGD:1308187 HGNC:29802 "ENST00000357066.8|NM_130807.3" HGNC:23825 MOB3B MOB kinase activator 3B protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "MOB1D|FLJ13204" monopolar spindle 1 binding, MOB1, domain containing "MOBKL2B|C9orf35" "MOB1, Mps One Binder kinase activator-like 2B (yeast)|chromosome 9 open reading frame 35" MOB kinase activators 647 2004-02-11 2011-09-28 2011-09-28 2023-01-20 79817 ENSG00000120162 OTTHUMG00000019717 uc003zqn.4 AK023266 NM_024761 CCDS6520 Q86TA1 12477932 MGI:2664539 RGD:1560696 617652 HGNC:23825 "ENST00000262244.6|NM_024761.5" HGNC:29800 MOB3C MOB kinase activator 3C protein-coding gene gene with protein product Approved 1p33 01p33 MOB1E MOBKL2C MOB1, Mps One Binder kinase activator-like 2C (yeast) MOB kinase activators 647 2004-02-11 2011-09-28 2011-09-28 2023-01-20 148932 ENSG00000142961 OTTHUMG00000007989 uc001cqf.4 AK091808 NM_145279 CCDS540 Q70IA8 12477932 MGI:2140623 RGD:1307821 HGNC:29800 "ENST00000319928.9|NM_201403.3" -HGNC:17261 MOB4 MOB family member 4, phocein protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "MOB3|DKFZP564M112|CGI-95|2C4D|PHOCN" "phocein|phocein, Mob-like protein" "PREI3|MOBKL3" "preimplantation protein 3|MOB1, Mps One Binder kinase activator-like 3 (yeast)" "MOB kinase activators|STRIPAK complex" "647|1371" 2002-01-16 2011-09-28 2011-09-28 2023-01-20 25843 ENSG00000115540 OTTHUMG00000132748 uc002uun.5 AF151853 NM_015387 "CCDS2322|CCDS46480|CCDS2321" Q9Y3A3 "17853115|10810093|11230166|11319234" MGI:104899 RGD:620183 609361 HGNC:17261 "ENST00000323303.9|NM_015387.5" +HGNC:17261 MOB4 MOB family member 4, phocein protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "MOB3|DKFZP564M112|CGI-95|2C4D|PHOCN" "phocein|phocein, Mob-like protein" "PREI3|MOBKL3" "preimplantation protein 3|MOB1, Mps One Binder kinase activator-like 3 (yeast)" "MOB kinase activators|STRIPAK complex" "647|1371" 2002-01-16 2011-09-28 2011-09-28 2023-01-20 25843 ENSG00000115540 OTTHUMG00000132748 uc002uun.5 AF151853 NM_015387 "CCDS46480|CCDS2321|CCDS2322" Q9Y3A3 "17853115|10810093|11230166|11319234" MGI:104899 RGD:620183 609361 HGNC:17261 "ENST00000323303.9|NM_015387.5" HGNC:54749 MOB4P1 MOB4 pseudogene 1 pseudogene pseudogene Approved 2p13.3 02p13.3 2019-12-20 2019-12-20 100421925 ENSG00000231386 NG_023567 HGNC:54750 MOB4P2 MOB4 pseudogene 2 pseudogene pseudogene Approved 11q14.2 11q14.2 2019-12-20 2019-12-20 100131078 ENSG00000271318 NG_021794 -HGNC:7189 MOBP myelin associated oligodendrocyte basic protein protein-coding gene gene with protein product Approved 3p22.1 03p22.1 1996-09-13 2019-02-15 2023-01-20 4336 ENSG00000168314 OTTHUMG00000131347 uc003cjv.5 D28113 "NM_006501|NM_182934|NM_182935" "CCDS2687|CCDS63598|CCDS2688" Q13875 7989345 MGI:108511 RGD:3101 600948 HGNC:7189 "ENST00000684792.1|NM_001393704.1" +HGNC:7189 MOBP myelin associated oligodendrocyte basic protein protein-coding gene gene with protein product Approved 3p22.1 03p22.1 1996-09-13 2019-02-15 2023-01-20 4336 ENSG00000168314 OTTHUMG00000131347 uc003cjv.5 D28113 "NM_006501|NM_182934|NM_182935" "CCDS2688|CCDS2687|CCDS63598" Q13875 7989345 MGI:108511 RGD:3101 600948 HGNC:7189 "ENST00000684792.1|NM_001393704.1" HGNC:18234 MOCOS molybdenum cofactor sulfurase protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "HMCS|FLJ20733|MOS" 2003-12-18 2023-01-20 55034 ENSG00000075643 OTTHUMG00000132590 uc002kzq.5 AK000740 NM_017947 CCDS11919 Q96EN8 11302742 MGI:1915841 RGD:1308496 613274 123447 HGNC:18234 "ENST00000261326.6|NM_017947.4" HGNC:18234 -HGNC:7190 MOCS1 molybdenum cofactor synthesis 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 MOCOD Radical S-adenosylmethionine domain containing 2036 1998-07-23 2023-03-15 4337 ENSG00000124615 OTTHUMG00000014656 uc063oip.1 AJ224328 NM_005943 "CCDS43460|CCDS87394" Q9NZB8 "9731530|10053004" MGI:1928904 RGD:1308471 603707 123452 HGNC:7190 "ENST00000340692.10|NM_001358530.2" HGNC:7190 +HGNC:7190 MOCS1 molybdenum cofactor synthesis 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 MOCOD Radical S-adenosylmethionine domain containing 2036 1998-07-23 2023-03-15 4337 ENSG00000124615 OTTHUMG00000014656 uc063oip.1 AJ224328 NM_005943 "CCDS87394|CCDS43460" Q9NZB8 "9731530|10053004" MGI:1928904 RGD:1308471 603707 123452 HGNC:7190 "ENST00000340692.10|NM_001358530.2" HGNC:7190 HGNC:7191 MOCS1P1 molybdenum cofactor synthesis 1 pseudogene 1 pseudogene pseudogene Approved 16q12.1 16q12.1 MOCS1P2 molybdenum cofactor synthesis 1 pseudogene 2 2000-01-20 2014-11-19 27187 ENSG00000260347 OTTHUMG00000175420 AJ272089 NG_001271 PGOHUM00000249122 HGNC:7191 -HGNC:7193 MOCS2 molybdenum cofactor synthesis 2 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "MOCO1|MOCS2A|MOCS2B" "molybdopterin synthase catalytic subunit|molybdopterin synthase large subunit|molybdopterin synthase small subunit" 1998-07-23 2023-01-20 4338 ENSG00000164172 OTTHUMG00000096981 uc003joz.5 AF117815 NM_183418 "CCDS3958|CCDS47205" "O96007|O96033" "16737835|10053004|9889283" MGI:1336894 RGD:1359477 603708 123455 2.8.1.12 HGNC:7193 "ENST00000396954.8|NM_004531.5" HGNC:7193 +HGNC:7193 MOCS2 molybdenum cofactor synthesis 2 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "MOCO1|MOCS2A|MOCS2B" "molybdopterin synthase catalytic subunit|molybdopterin synthase large subunit|molybdopterin synthase small subunit" 1998-07-23 2023-01-20 4338 ENSG00000164172 OTTHUMG00000096981 uc003joz.5 AF117815 NM_183418 "CCDS47205|CCDS3958" "O96007|O96033" "16737835|10053004|9889283" MGI:1336894 RGD:1359477 603708 123455 2.8.1.12 HGNC:7193 "ENST00000396954.8|NM_004531.5" HGNC:7193 HGNC:27417 MOCS2-DT MOCS2 divergent transcript non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Divergent transcripts 1990 2021-04-26 2021-04-26 257396 ENSG00000247796 NR_034107 HGNC:15765 MOCS3 molybdenum cofactor synthesis 3 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "UBA4|dJ914P20.3" "ubiquitin-like modifier activating enzyme 4|UBA4, ubiquitin-activating enzyme E1 homolog (yeast)" Ubiquitin like modifier activating enzymes 100 2001-09-17 2023-01-20 27304 ENSG00000124217 OTTHUMG00000032741 uc002xvy.3 AF102544 NM_014484 CCDS13435 O95396 15910006 MGI:1916622 RGD:1307044 609277 HGNC:15765 "ENST00000244051.3|NM_014484.5" HGNC:20021 MOCS3P1 molybdenum cofactor synthesis 3 pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 MOCS3P molybdenum cofactor synthesis 3 pseudogene 2003-01-13 2010-02-25 2010-02-25 2014-11-18 326305 NG_002557 PGOHUM00000248197 HGNC:20021 HGNC:39444 MOCS3P2 molybdenum cofactor synthesis 3 pseudogene 2 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-01-11 2011-01-11 100420520 NG_024852 PGOHUM00000248388 HGNC:39444 -HGNC:7197 MOG myelin oligodendrocyte glycoprotein protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "BTN6|BTNL11" "Butyrophilins|V-set domain containing" "458|590" 1994-03-30 2023-01-20 4340 ENSG00000204655 OTTHUMG00000031099 uc011ifj.3 NM_002433 "CCDS34368|CCDS34367|CCDS4667|CCDS87379|CCDS47394|CCDS47395|CCDS34366|CCDS34370|CCDS34369|CCDS54977" Q16653 MGI:97435 RGD:3102 159465 285128 HGNC:7197 "ENST00000376917.8|NM_206809.4" +HGNC:7197 MOG myelin oligodendrocyte glycoprotein protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "BTN6|BTNL11" "Butyrophilins|V-set domain containing" "458|590" 1994-03-30 2023-01-20 4340 ENSG00000204655 OTTHUMG00000031099 uc011ifj.3 NM_002433 "CCDS34370|CCDS47394|CCDS47395|CCDS87379|CCDS4667|CCDS54977|CCDS34369|CCDS34368|CCDS34366|CCDS34367" Q16653 MGI:97435 RGD:3102 159465 285128 HGNC:7197 "ENST00000376917.8|NM_206809.4" HGNC:18210 MOGAT1 monoacylglycerol O-acyltransferase 1 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "DGAT2L|MGAT1" DGAT2L1 diacylglycerol O-acyltransferase 2 like 1 Diacylglycerol O-acyltransferase 2 family 1235 2002-04-10 2004-05-28 2004-05-28 2023-01-20 116255 ENSG00000124003 OTTHUMG00000153394 uc010fws.2 AF384163 NM_058165 CCDS46524 Q96PD6 14970677 MGI:1915643 RGD:1311644 610268 HGNC:18210 "ENST00000446656.4|NM_058165.3" HGNC:23248 MOGAT2 monoacylglycerol O-acyltransferase 2 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "MGAT2|DGAT2L5|FLJ22644" Diacylglycerol O-acyltransferase 2 family 1235 2004-05-14 2023-01-20 80168 ENSG00000166391 OTTHUMG00000165341 uc010rru.3 AY157608 NM_025098 CCDS8240 Q3SYC2 14970677 MGI:2663253 RGD:1598060 610270 objectId:2881 HGNC:23248 "ENST00000198801.10|NM_025098.4" HGNC:23249 MOGAT3 monoacylglycerol O-acyltransferase 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DC7|MGAT3|DGAT2L2" Diacylglycerol O-acyltransferase 2 family 1235 2004-05-14 2023-01-20 346606 ENSG00000106384 OTTHUMG00000023328 uc003uyc.5 AY229854 NM_178176 "CCDS75643|CCDS5714" Q86VF5 "12618427|14970677" RGD:1592588 610184 "2.3.1.20|2.3.1.22" HGNC:23249 "ENST00000223114.9|NM_178176.4" HGNC:24862 MOGS mannosyl-oligosaccharide glucosidase protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "GCS1|CWH41|DER7" "glucosidase I|processing A-glucosidase I" Glycoside hydrolases 1650 2009-03-24 2023-01-20 7841 ENSG00000115275 OTTHUMG00000152886 uc010ffj.3 X87237 NM_006302 "CCDS42700|CCDS54370" Q13724 "7635146|8786151" MGI:1929872 RGD:69240 LRG_1226|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1226.xml 601336 183883 3.2.1.106 HGNC:24862 "ENST00000448666.7|NM_006302.3" HGNC:24862 -HGNC:9833 MOK MOK protein kinase protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "RAGE1|STK30" RAGE renal tumor antigen 1995-05-10 2011-09-06 2011-09-06 2023-01-20 5891 ENSG00000080823 OTTHUMG00000164896 uc001ylm.5 AB022694 NM_001272011 "CCDS81854|CCDS9971|CCDS61552" Q9UQ07 "8781117|10421840" MGI:1336881 RGD:1309274 605762 objectId:2107 HGNC:9833 "ENST00000361847.7|NM_014226.3" +HGNC:9833 MOK MOK protein kinase protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "RAGE1|STK30" RAGE renal tumor antigen 1995-05-10 2011-09-06 2011-09-06 2023-01-20 5891 ENSG00000080823 OTTHUMG00000164896 uc001ylm.5 AB022694 NM_001272011 "CCDS81854|CCDS61552|CCDS9971" Q9UQ07 "8781117|10421840" MGI:1336881 RGD:1309274 605762 objectId:2107 HGNC:9833 "ENST00000361847.7|NM_014226.3" HGNC:28207 MON1A MON1 homolog A, secretory trafficking associated protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "MGC13272|SAND1" "MON1 homolog A (yeast)|MON1 secretory trafficking family member A" 2005-03-02 2015-11-27 2023-01-20 84315 ENSG00000164077 OTTHUMG00000156737 uc003cxz.4 AK074404 NM_032355 "CCDS2808|CCDS46830" Q86VX9 20305638 MGI:1920075 RGD:1308823 611464 HGNC:28207 "ENST00000296473.8|NM_032355.4" -HGNC:25020 MON1B MON1 homolog B, secretory trafficking associated protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "SAND2|HSRG1|KIAA0872" "MON1 homolog B (yeast)|MON1 secretory trafficking family member B" 2005-03-02 2015-11-27 2023-01-20 22879 ENSG00000103111 OTTHUMG00000137618 uc002fez.5 BC024277 NM_014940 "CCDS10925|CCDS67083|CCDS67082" Q7L1V2 10048485 MGI:1923231 RGD:1309977 608954 HGNC:25020 "ENST00000248248.8|NM_014940.4" -HGNC:29177 MON2 MON2 homolog, regulator of endosome-to-Golgi trafficking protein-coding gene gene with protein product Approved 12q14.1 12q14.1 KIAA1040 "MON2 homolog (yeast)|MON2 homolog (S. cerevisiae)" Armadillo like helical domain containing 1492 2006-01-20 2015-07-02 2023-01-20 23041 ENSG00000061987 OTTHUMG00000169992 uc001sre.4 NM_015026 "CCDS61177|CCDS61178|CCDS31849|CCDS61175" Q7Z3U7 "16301316|24285343" MGI:1914324 RGD:1308808 616822 HGNC:29177 "ENST00000393630.8|NM_015026.3" -HGNC:56698 MON2-AS1 MON2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 AC079035.1 Antisense RNAs 1987 2023-01-16 2023-01-16 128385372 ENSG00000257568 33499129 +HGNC:25020 MON1B MON1 homolog B, secretory trafficking associated protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "SAND2|HSRG1|KIAA0872" "MON1 homolog B (yeast)|MON1 secretory trafficking family member B" 2005-03-02 2015-11-27 2023-01-20 22879 ENSG00000103111 OTTHUMG00000137618 uc002fez.5 BC024277 NM_014940 "CCDS67083|CCDS10925|CCDS67082" Q7L1V2 10048485 MGI:1923231 RGD:1309977 608954 HGNC:25020 "ENST00000248248.8|NM_014940.4" +HGNC:29177 MON2 MON2 homolog, regulator of endosome-to-Golgi trafficking protein-coding gene gene with protein product Approved 12q14.1 12q14.1 KIAA1040 "MON2 homolog (yeast)|MON2 homolog (S. cerevisiae)" Armadillo like helical domain containing 1492 2006-01-20 2015-07-02 2023-01-20 23041 ENSG00000061987 OTTHUMG00000169992 uc001sre.4 NM_015026 "CCDS61177|CCDS31849|CCDS61178|CCDS61175" Q7Z3U7 "16301316|24285343" MGI:1914324 RGD:1308808 616822 HGNC:29177 "ENST00000393630.8|NM_015026.3" +HGNC:56698 MON2-AS1 MON2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 AC079035.1 Antisense RNAs 1987 2023-01-16 2023-01-16 128385372 ENSG00000257568 NR_186172 33499129 HGNC:7198 MORC1 MORC family CW-type zinc finger 1 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "ZCW6|CT33" cancer/testis antigen 33 MORC "microrchidia (mouse) homolog|microrchidia homolog (mouse)" Zinc fingers CW-type 96 2000-01-20 2005-06-15 2005-06-15 2023-01-20 27136 ENSG00000114487 OTTHUMG00000159209 uc003dxl.4 AF084946 NM_014429 CCDS2955 Q86VD1 10369865 MGI:1316740 RGD:1565610 603205 HGNC:7198 "ENST00000232603.10|NM_014429.4" HGNC:40377 MORC1-AS1 MORC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.13 03q13.13 MORC1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100506506 ENSG00000239314 OTTHUMG00000159211 uc062mhf.1 NR_144461 MORC1-AS1 HGNC:40377 -HGNC:23573 MORC2 MORC family CW-type zinc finger 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "ZCW3|KIAA0852|AC004542.C22.1" ZCWCC1 "zinc finger, CW-type with coiled-coil domain 1|zinc finger, CW type with coiled-coil domain 1" Zinc fingers CW-type 96 2003-11-24 2005-06-15 2005-06-15 2023-01-20 22880 ENSG00000133422 OTTHUMG00000151193 uc062dgc.1 AB020659 NM_014941 "CCDS77668|CCDS33636" Q9Y6X9 14607086 MGI:1921772 RGD:1310842 616661 470678 HGNC:23573 "ENST00000397641.8|NM_001303256.3" HGNC:23573 +HGNC:23573 MORC2 MORC family CW-type zinc finger 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "ZCW3|KIAA0852|AC004542.C22.1" ZCWCC1 "zinc finger, CW-type with coiled-coil domain 1|zinc finger, CW type with coiled-coil domain 1" Zinc fingers CW-type 96 2003-11-24 2005-06-15 2005-06-15 2023-01-20 22880 ENSG00000133422 OTTHUMG00000151193 uc062dgc.1 AB020659 NM_014941 "CCDS33636|CCDS77668" Q9Y6X9 14607086 MGI:1921772 RGD:1310842 616661 470678 HGNC:23573 "ENST00000397641.8|NM_001303256.3" HGNC:23573 HGNC:26662 MORC2-AS1 MORC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 FLJ35801 "C22orf27|NCRNA00325" "chromosome 22 open reading frame 27|non-protein coding RNA 325|MORC2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2006-06-27 2011-05-04 2012-08-15 2023-03-15 150291 ENSG00000235989 OTTHUMG00000150197 uc003ajd.4 AK093120 NR_026920 MORC2-AS1 HGNC:26662 HGNC:23572 MORC3 MORC family CW-type zinc finger 3 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 "ZCW5|NXP2|KIAA0136" ZCWCC3 "zinc finger, CW-type with coiled-coil domain 3|zinc finger, CW type with coiled-coil domain 3" Zinc fingers CW-type 96 2003-11-24 2005-06-15 2005-06-15 2023-01-20 23515 ENSG00000159256 OTTHUMG00000086620 uc002yvi.3 AK025327 NM_015358 CCDS42924 Q14149 14607086 MGI:2136841 RGD:1307924 610078 HGNC:23572 "ENST00000400485.6|NM_015358.3" HGNC:23485 MORC4 MORC family CW-type zinc finger 4 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "ZCW4|FLJ11565" ZCWCC2 "zinc finger, CW-type with coiled-coil domain 2|zinc finger, CW type with coiled-coil domain 2" Zinc fingers CW-type 96 2003-11-24 2005-06-15 2005-06-15 2023-01-20 79710 ENSG00000133131 OTTHUMG00000022155 uc004emu.4 AK021627 NM_024657 "CCDS14525|CCDS48146" Q8TE76 14607086 MGI:1922996 RGD:1559905 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MORC4 300970 HGNC:23485 "ENST00000355610.9|NM_024657.5" @@ -20735,29 +20737,29 @@ HGNC:39259 MORF4L1P7 mortality factor 4 like 1 pseudogene 7 pseudogene pseudogen HGNC:16849 MORF4L2 mortality factor 4 like 2 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "KIAA0026|MRGX" MORF-related gene X EMSY complex 1243 2003-02-10 2023-01-20 9643 ENSG00000123562 OTTHUMG00000022104 uc004elf.4 AF100620 NM_012286 CCDS14512 Q15014 "9891081|7584026" MGI:1927167 RGD:1359471 300409 HGNC:16849 "ENST00000441076.7|NM_012286.3" HGNC:27991 MORF4L2-AS1 MORF4L2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.2 Xq22.2 MORF4L2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-02 2012-08-15 2014-11-19 340544 ENSG00000231154 OTTHUMG00000022108 uc004elg.4 BC043382 NR_038978 12477932 MORF4L2-AS1 HGNC:27991 HGNC:20403 MORF4L2P1 mortality factor 4 like 2 pseudogene 1 pseudogene pseudogene Approved 4q12 04q12 MRG4 MORF4LP4 mortality factor 4 like pseudogene 4 2003-02-10 2010-11-24 2010-11-24 2010-11-24 643915 ENSG00000250147 OTTHUMG00000160642 NG_011863 9891081 PGOHUM00000245911 HGNC:20403 -HGNC:25852 MORN1 MORN repeat containing 1 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 FLJ13941 2005-12-06 2023-01-20 79906 ENSG00000116151 OTTHUMG00000001402 uc001ajb.2 AK024003 NM_024848 "CCDS72688|CCDS40" Q5T089 12477932 MGI:1924116 RGD:1359433 HGNC:25852 "ENST00000378531.8|NM_024848.3" +HGNC:25852 MORN1 MORN repeat containing 1 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 FLJ13941 2005-12-06 2023-01-20 79906 ENSG00000116151 OTTHUMG00000001402 uc001ajb.2 AK024003 NM_024848 "CCDS40|CCDS72688" Q5T089 12477932 MGI:1924116 RGD:1359433 HGNC:25852 "ENST00000378531.8|NM_024848.3" HGNC:30166 MORN2 MORN repeat containing 2 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 MOPT 2005-12-06 2023-01-20 729967 ENSG00000188010 OTTHUMG00000128589 uc010fak.3 AY367766 NM_194270 CCDS46262 Q502X0 12477932 MGI:2674071 RGD:1563988 HGNC:30166 "ENST00000644631.4|NM_001145450.3" HGNC:29807 MORN3 MORN repeat containing 3 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 2006-01-17 2023-01-20 283385 ENSG00000139714 OTTHUMG00000169075 uc001uax.4 BC057760 NM_173855 CCDS31917 Q6PF18 25248657 MGI:1922140 RGD:1583091 HGNC:29807 "ENST00000355329.7|NM_173855.5" HGNC:24001 MORN4 MORN repeat containing 4 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "bA548K23.4|FLJ25925|rtp" "44050 protein|retinophilin homolog (Drosophila)" C10orf83 chromosome 10 open reading frame 83 2004-03-04 2008-06-23 2008-06-23 2023-01-20 118812 ENSG00000171160 OTTHUMG00000018861 uc057vgc.1 AJ431726 NM_178832 CCDS7468 Q8NDC4 "22496551|25822849" MGI:2449568 RGD:1307336 617736 HGNC:24001 "ENST00000307450.11|NM_178832.4" HGNC:17841 MORN5 MORN repeat containing 5 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 FLJ46909 "C9orf113|C9orf18" "chromosome 9 open reading frame 113|chromosome 9 open reading frame 18" 2002-01-29 2008-06-23 2008-06-23 2023-01-20 254956 ENSG00000185681 OTTHUMG00000020599 uc004blw.4 AK128877 NM_198469 "CCDS75894|CCDS6836" Q5VZ52 MGI:1922745 RGD:1307739 619837 HGNC:17841 "ENST00000373764.8|NM_198469.4" HGNC:17841 HGNC:7199 MOS MOS proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 8q12.1 08q12.1 v-mos Moloney murine sarcoma viral oncogene homolog 2001-06-22 2016-12-06 2023-01-20 4342 ENSG00000172680 OTTHUMG00000164299 uc011leb.2 NM_005372 CCDS6164 P00540 9552420 MGI:97052 RGD:3103 190060 objectId:2108 HGNC:7199 "ENST00000311923.1|NM_005372.1" HGNC:27087 MOSMO modulator of smoothened protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "ATTHOG|BC030336" Attenuator of Hedgehog C16orf52 chromosome 16 open reading frame 52 2005-04-04 2018-01-22 2018-01-22 2023-01-20 730094 ENSG00000185716 OTTHUMG00000131587 uc002dkd.3 BC027604 NM_001164579 CCDS58431 Q8NHV5 29290584 MGI:2446240 RGD:7606925 HGNC:27087 "ENST00000542527.7|NM_001164579.2" -HGNC:25235 MOSPD1 motile sperm domain containing 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 dJ473B4 2004-02-23 2023-01-20 56180 ENSG00000101928 OTTHUMG00000035315 uc004eyb.4 Z83826 NM_019556 "CCDS78507|CCDS14645" Q9UJG1 15533722 MGI:1917630 RGD:1359486 300674 HGNC:25235 "ENST00000370783.8|NM_019556.3" +HGNC:25235 MOSPD1 motile sperm domain containing 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 dJ473B4 2004-02-23 2023-01-20 56180 ENSG00000101928 OTTHUMG00000035315 uc004eyb.4 Z83826 NM_019556 "CCDS14645|CCDS78507" Q9UJG1 15533722 MGI:1917630 RGD:1359486 300674 HGNC:25235 "ENST00000370783.8|NM_019556.3" HGNC:28381 MOSPD2 motile sperm domain containing 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MGC26706 2004-02-23 2023-01-20 158747 ENSG00000130150 OTTHUMG00000021170 uc004cwi.4 AL834345 NM_152581 "CCDS83457|CCDS14162" Q8NHP6 15533722 MGI:1924013 RGD:1563952 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MOSPD2 301086 HGNC:28381 "ENST00000380492.8|NM_152581.4" HGNC:28381 -HGNC:25078 MOSPD3 motile sperm domain containing 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CDS3|NET30" 2004-02-23 2023-01-20 64598 ENSG00000106330 OTTHUMG00000159599 uc003uvq.4 BC011653 NM_023948 "CCDS5701|CCDS47662" O75425 15533722 MGI:1916179 RGD:1304973 609125 HGNC:25078 "ENST00000393950.7|NM_023948.5" -HGNC:7200 MOV10 Mov10 RISC complex RNA helicase protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "gb110|MGC2948|fSAP113" functional spliceosome-associated protein 113 "Mov10 (Moloney leukemia virus 10, mouse) homolog|Mov10, Moloney leukemia virus 10, homolog (mouse)" UPF1 like RNA helicases 1169 1996-12-19 2014-07-02 2023-01-20 4343 ENSG00000155363 OTTHUMG00000011906 uc001ecn.5 AL833353 NM_020963 "CCDS65615|CCDS853" Q9HCE1 12226669 MGI:97054 RGD:1598327 610742 HGNC:7200 "ENST00000369645.6|NM_001321324.2" -HGNC:7201 MOV10L1 Mov10 like RISC complex RNA helicase 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "DJ402G11.8|DKFZp434B0717|CHAMP" cardiac helicase activated by MEF2C protein "Mov10 (mouse)-like 1|Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)|Mov10 RISC complex RNA helicase like 1" UPF1 like RNA helicases 1169 2000-05-31 2018-06-07 2023-01-20 54456 ENSG00000073146 OTTHUMG00000044648 uc062fjb.1 AF285604 NM_018995 "CCDS14084|CCDS54541|CCDS54542|CCDS54543" Q9BXT6 11279525 MGI:1891384 RGD:1304735 605794 HGNC:7201 "ENST00000262794.10|NM_018995.3" +HGNC:25078 MOSPD3 motile sperm domain containing 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CDS3|NET30" 2004-02-23 2023-01-20 64598 ENSG00000106330 OTTHUMG00000159599 uc003uvq.4 BC011653 NM_023948 "CCDS47662|CCDS5701" O75425 15533722 MGI:1916179 RGD:1304973 609125 HGNC:25078 "ENST00000393950.7|NM_023948.5" +HGNC:7200 MOV10 Mov10 RISC complex RNA helicase protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "gb110|MGC2948|fSAP113" functional spliceosome-associated protein 113 "Mov10 (Moloney leukemia virus 10, mouse) homolog|Mov10, Moloney leukemia virus 10, homolog (mouse)" UPF1 like RNA helicases 1169 1996-12-19 2014-07-02 2023-01-20 4343 ENSG00000155363 OTTHUMG00000011906 uc001ecn.5 AL833353 NM_020963 "CCDS853|CCDS65615" Q9HCE1 12226669 MGI:97054 RGD:1598327 610742 HGNC:7200 "ENST00000369645.6|NM_001321324.2" +HGNC:7201 MOV10L1 Mov10 like RISC complex RNA helicase 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "DJ402G11.8|DKFZp434B0717|CHAMP" cardiac helicase activated by MEF2C protein "Mov10 (mouse)-like 1|Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)|Mov10 RISC complex RNA helicase like 1" UPF1 like RNA helicases 1169 2000-05-31 2018-06-07 2023-01-20 54456 ENSG00000073146 OTTHUMG00000044648 uc062fjb.1 AF285604 NM_018995 "CCDS14084|CCDS54542|CCDS54541|CCDS54543" Q9BXT6 11279525 MGI:1891384 RGD:1304735 605794 HGNC:7201 "ENST00000262794.10|NM_018995.3" HGNC:21063 MOXD1 monooxygenase DBH like 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "DKFZP564G202|MOX|dJ248E1.1" monooxygenase, DBH-like 1 2003-06-20 2016-04-06 2023-01-20 26002 ENSG00000079931 OTTHUMG00000055853 uc003qdf.4 AY007239 NM_015529 CCDS5152 Q6UVY6 9751809 MGI:1921582 RGD:1310033 609000 HGNC:21063 "ENST00000367963.8|NM_015529.4" HGNC:33605 MOXD2P monooxygenase DBH like 2, pseudogene pseudogene pseudogene Approved 7q34 07q34 MOXD2 monooxygenase, DBH-like 2 pseudogene 2007-08-16 2010-09-24 2019-02-19 2020-01-08 100289017 ENSG00000240268 OTTHUMG00000158566 NR_024346 A6NHM9 MGI:2388042 RGD:1564286 HGNC:33605 -HGNC:21606 MPC1 mitochondrial pyruvate carrier 1 protein-coding gene gene with protein product Approved 6q27 06q27 "dJ68L15.3|CGI-129|SLC54A1" BRP44L brain protein 44-like Solute carrier family 54, mitochondrial pyruvate carriers 2204 2003-06-26 2012-07-30 2012-07-30 2023-03-14 51660 ENSG00000060762 OTTHUMG00000015999 uc063svb.1 AF125101 NM_016098 "CCDS5293|CCDS75547" Q9Y5U8 22628558 MGI:1915240 RGD:620902 614738 SLC54A1 456998 objectId:3022 HGNC:21606 "ENST00000360961.11|NM_016098.4" HGNC:21606 +HGNC:21606 MPC1 mitochondrial pyruvate carrier 1 protein-coding gene gene with protein product Approved 6q27 06q27 "dJ68L15.3|CGI-129|SLC54A1" BRP44L brain protein 44-like Solute carrier family 54, mitochondrial pyruvate carriers 2204 2003-06-26 2012-07-30 2012-07-30 2023-03-14 51660 ENSG00000060762 OTTHUMG00000015999 uc063svb.1 AF125101 NM_016098 "CCDS75547|CCDS5293" Q9Y5U8 22628558 MGI:1915240 RGD:620902 614738 SLC54A1 456998 objectId:3022 HGNC:21606 "ENST00000360961.11|NM_016098.4" HGNC:21606 HGNC:55366 MPC1-DT MPC1 divergent transcript non-coding RNA RNA, long non-coding Approved 6q27 06q27 Divergent transcripts 1990 2020-11-11 2020-11-11 119545625 ENSG00000261420 HGNC:44205 MPC1L mitochondrial pyruvate carrier 1 like protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 SLC54A3 Solute carrier family 54, mitochondrial pyruvate carriers 2204 2012-07-30 2017-05-12 2023-03-14 347411 ENSG00000238205 OTTHUMG00000024105 NM_001195522 CCDS83466 P0DKB6 27317664 RGD:1563528 301103 SLC54A3 PGOHUM00000241717 objectId:3024 HGNC:44205 "ENST00000423387.4|NM_001195522.3" HGNC:24515 MPC2 mitochondrial pyruvate carrier 2 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "DKFZP564B167|SLC54A2" BRP44 brain protein 44 Solute carrier family 54, mitochondrial pyruvate carriers 2204 2005-05-24 2012-07-30 2012-07-30 2023-03-14 25874 ENSG00000143158 OTTHUMG00000034570 uc001ges.4 NM_015415 CCDS1266 O95563 "3022128|22628558" MGI:1917706 RGD:1563422 614737 SLC54A2 470680 objectId:3023 HGNC:24515 "ENST00000271373.9|NM_001143674.4" -HGNC:7207 MPDU1 mannose-P-dolichol utilization defect 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "SL15|Lec35|PQLC5|CDGIf|SLC66A5" Solute carrier family 66 2215 1999-05-25 2023-03-14 9526 ENSG00000129255 OTTHUMG00000108147 uc002ghw.4 AF038961 NM_001330073 "CCDS11115|CCDS82054" O75352 "8663248|9653160|11733564" MGI:1346040 RGD:1307699 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 604041 123458 objectId:3164 HGNC:7207 "ENST00000250124.11|NM_004870.4" HGNC:7207 +HGNC:7207 MPDU1 mannose-P-dolichol utilization defect 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "SL15|Lec35|PQLC5|CDGIf|SLC66A5" Solute carrier family 66 2215 1999-05-25 2023-03-14 9526 ENSG00000129255 OTTHUMG00000108147 uc002ghw.4 AF038961 NM_001330073 "CCDS82054|CCDS11115" O75352 "8663248|9653160|11733564" MGI:1346040 RGD:1307699 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 604041 123458 objectId:3164 HGNC:7207 "ENST00000250124.11|NM_004870.4" HGNC:7207 HGNC:40379 MPDU1-AS1 MPDU1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.1 17p13.1 AC016876.1 Antisense RNAs 1987 2023-01-20 2023-01-20 100996842 ENSG00000233223 NR_136401 33390777 -HGNC:7208 MPDZ multiple PDZ domain crumbs cell polarity complex component protein-coding gene gene with protein product Approved 9p23 09p23 MUPP1 multiple PDZ domain protein "PDZ domain containing|Crumbs complex" "1220|1223" 1998-12-16 2016-02-22 2023-01-20 8777 ENSG00000107186 OTTHUMG00000021031 uc003zlb.5 AF093419 NM_003829 "CCDS47951|CCDS83342|CCDS59119|CCDS59120" O75970 MGI:1343489 RGD:3105 603785 323471 HGNC:7208 "ENST00000319217.12|NM_001378778.1" HGNC:7208 +HGNC:7208 MPDZ multiple PDZ domain crumbs cell polarity complex component protein-coding gene gene with protein product Approved 9p23 09p23 MUPP1 multiple PDZ domain protein "PDZ domain containing|Crumbs complex" "1220|1223" 1998-12-16 2016-02-22 2023-01-20 8777 ENSG00000107186 OTTHUMG00000021031 uc003zlb.5 AF093419 NM_003829 "CCDS83342|CCDS47951|CCDS59120|CCDS59119" O75970 MGI:1343489 RGD:3105 603785 323471 HGNC:7208 "ENST00000319217.12|NM_001378778.1" HGNC:7208 HGNC:29619 MPEG1 macrophage expressed 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 MPG1 macrophage expressed gene 1 2008-12-02 2023-01-20 219972 ENSG00000197629 OTTHUMG00000162676 uc001nnu.5 AK097211 NM_001039396 CCDS41650 Q2M385 "7888681|23257510" MGI:1333743 RGD:69275 610390 HGNC:29619 "ENST00000361050.4|NM_001039396.2" -HGNC:7211 MPG N-methylpurine DNA glycosylase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MDG alkyladenine DNA glycosylase DNA glycosylases 1024 1989-12-11 2015-06-23 2023-01-20 4350 ENSG00000103152 OTTHUMG00000047887 uc002cfm.4 NM_001015052 "CCDS42087|CCDS32345|CCDS32346" P29372 1874728 MGI:97073 RGD:3106 156565 3.2.2.21 HGNC:7211 "ENST00000356432.8|NM_001015052.3" HGNC:7211 +HGNC:7211 MPG N-methylpurine DNA glycosylase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MDG alkyladenine DNA glycosylase DNA glycosylases 1024 1989-12-11 2015-06-23 2023-01-20 4350 ENSG00000103152 OTTHUMG00000047887 uc002cfm.4 NM_001015052 "CCDS32346|CCDS32345|CCDS42087" P29372 1874728 MGI:97073 RGD:3106 156565 3.2.2.21 HGNC:7211 "ENST00000356432.8|NM_001015052.3" HGNC:7211 HGNC:7214 MPHOSPH6 M-phase phosphoprotein 6 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 MPP6 2000-05-12 2023-01-20 10200 ENSG00000135698 OTTHUMG00000137632 uc002fgw.4 X98263 NM_005792 CCDS10937 Q99547 8885239 MGI:1915783 RGD:1591222 605500 HGNC:7214 "ENST00000258169.9|NM_005792.2" HGNC:55377 MPHOSPH6-DT MPHOSPH6 divergent transcript non-coding RNA RNA, long non-coding Approved 16q23.3 16q23.3 Divergent transcripts 1990 2020-11-12 2020-11-12 119545631 ENSG00000261029 HGNC:54549 MPHOSPH6P1 MPHOSPH6 pseudogene 1 pseudogene pseudogene Approved 1p36.12 01p36.12 2019-10-11 2019-10-11 107985102 ENSG00000271428 HGNC:54549 @@ -20773,41 +20775,41 @@ HGNC:55693 MPHOSPH10P6 MPHOSPH10 pseudogene 6 pseudogene pseudogene Approved 15q HGNC:55694 MPHOSPH10P7 MPHOSPH10 pseudogene 7 pseudogene pseudogene Approved 15q13.1 15q13.1 2021-07-05 2022-01-17 100533850 ENSG00000261497 NG_028900 PGOHUM00000292858 HGNC:55695 MPHOSPH10P8 MPHOSPH10 pseudogene 8 pseudogene pseudogene Approved 15q13.1 15q13.1 2021-07-05 2022-01-17 100631268 NG_029299 HGNC:55696 MPHOSPH10P9 MPHOSPH10 pseudogene 9 pseudogene pseudogene Approved 15q11.2 15q11.2 2021-07-05 2022-01-17 100631266 ENSG00000275363 NG_029294 PGOHUM00000293126 -HGNC:7216 MPI mannose phosphate isomerase protein-coding gene gene with protein product Approved 15q24.1 15q24.1 mannose-6-phosphate isomerase 2001-06-22 2023-01-20 4351 ENSG00000178802 OTTHUMG00000142826 uc002azc.3 NM_001289155 "CCDS73757|CCDS10272|CCDS73758|CCDS81908|CCDS73756" P34949 MGI:97075 RGD:3107 Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/ 154550 123463 5.3.1.8 HGNC:7216 "ENST00000352410.9|NM_002435.3" HGNC:7216 -HGNC:13937 MPIG6B megakaryocyte and platelet inhibitory receptor G6b protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G6b|NG31|G6b-B" C6orf25 chromosome 6 open reading frame 25 2002-04-05 2017-01-04 2017-01-04 2023-01-20 80739 ENSG00000204420 OTTHUMG00000031130 uc003nwk.4 NM_138272 "CCDS4717|CCDS4716|CCDS4715|CCDS34405|CCDS34406|CCDS34407" O95866 "10384126|11544253" MGI:2146995 RGD:1303269 LRG_1003|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1003.xml 606520 HGNC:13937 "ENST00000649779.1|NM_138272.3" HGNC:13937 +HGNC:7216 MPI mannose phosphate isomerase protein-coding gene gene with protein product Approved 15q24.1 15q24.1 mannose-6-phosphate isomerase 2001-06-22 2023-01-20 4351 ENSG00000178802 OTTHUMG00000142826 uc002azc.3 NM_001289155 "CCDS73756|CCDS81908|CCDS73757|CCDS10272|CCDS73758" P34949 MGI:97075 RGD:3107 Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/ 154550 123463 5.3.1.8 HGNC:7216 "ENST00000352410.9|NM_002435.3" HGNC:7216 +HGNC:13937 MPIG6B megakaryocyte and platelet inhibitory receptor G6b protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G6b|NG31|G6b-B" C6orf25 chromosome 6 open reading frame 25 2002-04-05 2017-01-04 2017-01-04 2023-01-20 80739 ENSG00000204420 OTTHUMG00000031130 uc003nwk.4 NM_138272 "CCDS34406|CCDS4716|CCDS34407|CCDS4717|CCDS34405|CCDS4715" O95866 "10384126|11544253" MGI:2146995 RGD:1303269 LRG_1003|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1003.xml 606520 HGNC:13937 "ENST00000649779.1|NM_138272.3" HGNC:13937 HGNC:7217 MPL MPL proto-oncogene, thrombopoietin receptor protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "CD110|TPOR|THPOR" myeloproliferative leukemia virus oncogene "CD molecules|Fibronectin type III domain containing" "471|555" 1990-09-10 2014-06-26 2023-01-20 4352 ENSG00000117400 OTTHUMG00000007429 uc001ciw.4 M90102 NM_005373 CCDS483 P40238 1608974 MGI:97076 RGD:1311069 LRG_510|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_510.xml MPL 159530 123465 objectId:1722 CD110 HGNC:7217 "ENST00000372470.9|NM_005373.3" HGNC:7217 HGNC:16002 MPLKIP M-phase specific PLK1 interacting protein protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "ORF20|TTDN1" C7orf11 chromosome 7 open reading frame 11 2002-02-13 2012-03-01 2012-03-01 2023-01-20 136647 ENSG00000168303 OTTHUMG00000128797 uc003thl.5 AX048113 NM_138701 CCDS5463 Q8TAP9 11829489 MGI:1913558 RGD:1584365 LRG_468|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_468.xml 609188 119113 HGNC:16002 "ENST00000306984.8|NM_138701.4" HGNC:16002 -HGNC:25934 MPND MPN domain containing protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ14981 JAMM/MPN+ metallopeptidase family 999 2007-02-02 2023-01-20 84954 ENSG00000008382 OTTHUMG00000181914 uc002mae.3 NM_032868 "CCDS54200|CCDS74261|CCDS42470" Q8N594 MGI:1915297 RGD:1589335 HGNC:25934 "ENST00000599840.6|NM_001300862.2" +HGNC:25934 MPND MPN domain containing protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ14981 JAMM/MPN+ metallopeptidase family 999 2007-02-02 2023-01-20 84954 ENSG00000008382 OTTHUMG00000181914 uc002mae.3 NM_032868 "CCDS42470|CCDS74261|CCDS54200" Q8N594 MGI:1915297 RGD:1589335 HGNC:25934 "ENST00000599840.6|NM_001300862.2" HGNC:7218 MPO myeloperoxidase protein-coding gene gene with protein product Approved 17q22 17q22 2001-06-22 2023-01-20 4353 ENSG00000005381 OTTHUMG00000178922 uc002ivu.1 NM_000250 CCDS11604 P05164 MGI:97137 RGD:1592081 "MPObase: Mutation registry for Myeloperoxidase deficiency|http://structure.bmc.lu.se/idbase/MPObase/|LRG_84|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_84.xml" 606989 123468 objectId:2789 1.11.1.7 HGNC:7218 "ENST00000225275.4|NM_000250.2" -HGNC:7219 MPP1 MAGUK p55 scaffold protein 1 protein-coding gene gene with protein product Approved Xq28 Xq28 PEMP DXS552E "membrane protein, palmitoylated 1 (55kD)|membrane protein, palmitoylated 1, 55kDa|membrane protein, palmitoylated 1|membrane palmitoylated protein 1" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1992-03-24 2021-09-16 2023-01-20 4354 ENSG00000130830 OTTHUMG00000024244 uc004fmp.3 NM_002436 "CCDS55545|CCDS14762|CCDS55544" Q00013 1713685 MGI:105941 RGD:1594331 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MPP1 305360 470682 HGNC:7219 "ENST00000369534.8|NM_002436.4" -HGNC:7220 MPP2 MAGUK p55 scaffold protein 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 DKFZp761D0712 "MAGUK p55 subfamily member 2|discs large, homolog 2" DLG2 "membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)|membrane protein, palmitoylated 2|membrane palmitoylated protein 2" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-05-04 2021-09-16 2023-01-20 4355 ENSG00000108852 OTTHUMG00000133840 uc032fjg.2 NM_005374 "CCDS62209|CCDS11471|CCDS62207|CCDS62208|CCDS62206|CCDS62210" Q14168 7590743 MGI:1858257 RGD:620014 600723 470210 HGNC:7220 "ENST00000269095.9|NM_005374.5" +HGNC:7219 MPP1 MAGUK p55 scaffold protein 1 protein-coding gene gene with protein product Approved Xq28 Xq28 PEMP DXS552E "membrane protein, palmitoylated 1 (55kD)|membrane protein, palmitoylated 1, 55kDa|membrane protein, palmitoylated 1|membrane palmitoylated protein 1" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1992-03-24 2021-09-16 2023-01-20 4354 ENSG00000130830 OTTHUMG00000024244 uc004fmp.3 NM_002436 "CCDS14762|CCDS55545|CCDS55544" Q00013 1713685 MGI:105941 RGD:1594331 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MPP1 305360 470682 HGNC:7219 "ENST00000369534.8|NM_002436.4" +HGNC:7220 MPP2 MAGUK p55 scaffold protein 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 DKFZp761D0712 "MAGUK p55 subfamily member 2|discs large, homolog 2" DLG2 "membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)|membrane protein, palmitoylated 2|membrane palmitoylated protein 2" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-05-04 2021-09-16 2023-01-20 4355 ENSG00000108852 OTTHUMG00000133840 uc032fjg.2 NM_005374 "CCDS62209|CCDS11471|CCDS62208|CCDS62210|CCDS62206|CCDS62207" Q14168 7590743 MGI:1858257 RGD:620014 600723 470210 HGNC:7220 "ENST00000269095.9|NM_005374.5" HGNC:7221 MPP3 MAGUK p55 scaffold protein 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MAGUK p55 subfamily member 3|discs, large (Drosophila) homolog 3|membrane protein palmitoylated 3" DLG3 "membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)|membrane protein, palmitoylated 3|membrane palmitoylated protein 3" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-05-04 2021-09-16 2023-01-20 4356 ENSG00000161647 OTTHUMG00000133838 uc002iei.5 NM_001932 "CCDS42344|CCDS82135" Q13368 8824795 MGI:1328354 RGD:620015 601114 HGNC:7221 "ENST00000398389.9|NM_001932.6" HGNC:13680 MPP4 MAGUK p55 scaffold protein 4 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 DLG6 "membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)|membrane protein, palmitoylated 4|membrane palmitoylated protein 4" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 2000-10-23 2021-09-16 2023-01-20 58538 ENSG00000082126 OTTHUMG00000154525 uc002uyk.5 AF316032 NM_033066 CCDS46491 Q96JB8 11414766 MGI:2386681 RGD:620016 606575 HGNC:13680 "ENST00000409474.8|NM_033066.3" HGNC:26542 MPP7 MAGUK p55 scaffold protein 7 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 FLJ32798 "membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)|membrane protein, palmitoylated 7|membrane palmitoylated protein 7" "Membrane associated guanylate kinases|PDZ domain containing|MicroRNA protein coding host genes" "904|1220|1691" 2004-01-15 2021-09-16 2023-01-20 143098 ENSG00000150054 OTTHUMG00000017868 uc001iub.2 BC038105 NM_173496 CCDS7158 Q5T2T1 14719143 MGI:1922989 RGD:1305675 610973 HGNC:26542 "ENST00000683449.1|NM_001318170.2" HGNC:54139 MPP7-DT MPP7 divergent transcript non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Divergent transcripts 1990 2018-12-06 2018-12-06 105376466 ENSG00000282996 XR_930770 HGNC:54139 -HGNC:15988 MPPE1 metallophosphoesterase 1 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "PGAP5|Cdc1" post-GPI attachment to proteins 5 2003-10-17 2023-03-15 65258 ENSG00000154889 OTTHUMG00000131661 uc002kqf.5 BC002877 NM_023075 "CCDS11853|CCDS82242|CCDS56054" Q53F39 "11978971|19837036" MGI:2661311 RGD:1309184 611900 HGNC:15988 "ENST00000588072.6|NM_023075.6" +HGNC:15988 MPPE1 metallophosphoesterase 1 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "PGAP5|Cdc1" post-GPI attachment to proteins 5 2003-10-17 2023-03-15 65258 ENSG00000154889 OTTHUMG00000131661 uc002kqf.5 BC002877 NM_023075 "CCDS56054|CCDS82242|CCDS11853" Q53F39 "11978971|19837036" MGI:2661311 RGD:1309184 611900 HGNC:15988 "ENST00000588072.6|NM_023075.6" HGNC:20143 MPPE1P1 metallophosphoesterase 1 pseudogene 1 pseudogene pseudogene Approved 14q31.3 14q31.3 MPPE1P metallophosphoesterase 1 pseudogene 2003-11-13 2013-09-20 2013-09-20 2020-04-20 390501 ENSG00000258990 OTTHUMG00000170891 NG_022846 PGOHUM00000247880 HGNC:20143 HGNC:1306 MPPED1 metallophosphoesterase domain containing 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "239AB|FAM1A" C22orf1 chromosome 22 open reading frame 1 1998-08-06 2005-10-10 2005-10-10 2023-01-20 758 ENSG00000186732 OTTHUMG00000150566 uc062exv.1 U84894 NM_001044370 CCDS46723 O15442 "9266672|10591208" MGI:106316 RGD:1308244 602112 HGNC:1306 "ENST00000443721.2|NM_001044370.2" -HGNC:1180 MPPED2 metallophosphoesterase domain containing 2 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "239FB|D11S302E|Hs.46638|FAM1B|dJ873F21.1|dJ1024C24.1" C11orf8 chromosome 11 open reading frame 8 1998-08-06 2005-10-10 2005-10-10 2023-01-20 744 ENSG00000066382 OTTHUMG00000166159 uc001msr.4 U57911 NM_001584 "CCDS44560|CCDS7870" Q15777 "8666403|9266672" MGI:1924265 RGD:735060 600911 HGNC:1180 "ENST00000358117.10|NM_001584.3" +HGNC:1180 MPPED2 metallophosphoesterase domain containing 2 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "239FB|D11S302E|Hs.46638|FAM1B|dJ873F21.1|dJ1024C24.1" C11orf8 chromosome 11 open reading frame 8 1998-08-06 2005-10-10 2005-10-10 2023-01-20 744 ENSG00000066382 OTTHUMG00000166159 uc001msr.4 U57911 NM_001584 "CCDS7870|CCDS44560" Q15777 "8666403|9266672" MGI:1924265 RGD:735060 600911 HGNC:1180 "ENST00000358117.10|NM_001584.3" HGNC:53909 MPPED2-AS1 MPPED2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 RP5-1024C24.1 Antisense RNAs 1987 2018-05-24 2018-06-07 105376609 ENSG00000254489 OTTHUMG00000166160 NR_183760 29783666 HGNC:53909 -HGNC:30321 MPRIP myosin phosphatase Rho interacting protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "RHOIP3|M-RIP|p116Rip" Rho interacting protein 3 Pleckstrin homology domain containing 682 2008-06-02 2023-01-20 23164 ENSG00000133030 OTTHUMG00000059276 uc002gqu.3 BC014102 NM_015134 "CCDS32578|CCDS92265|CCDS42268" Q6WCQ1 10048485 MGI:1349438 RGD:619947 612935 HGNC:30321 "ENST00000651222.2|NM_001364716.4" +HGNC:30321 MPRIP myosin phosphatase Rho interacting protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "RHOIP3|M-RIP|p116Rip" Rho interacting protein 3 Pleckstrin homology domain containing 682 2008-06-02 2023-01-20 23164 ENSG00000133030 OTTHUMG00000059276 uc002gqu.3 BC014102 NM_015134 "CCDS92265|CCDS42268|CCDS32578" Q6WCQ1 10048485 MGI:1349438 RGD:619947 612935 HGNC:30321 "ENST00000651222.2|NM_001364716.4" HGNC:41263 MPRIP-AS1 MPRIP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 MPRIP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-02 2012-08-15 2014-11-18 100874529 ENSG00000225442 OTTHUMG00000059279 uc060buu.1 BG548937 MPRIP-AS1 HGNC:44594 MPRIPP1 myosin phosphatase Rho interacting protein pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 2012-11-19 2012-11-19 100421374 ENSG00000214820 OTTHUMG00000156454 NG_025573 PGOHUM00000250236 HGNC:44594 -HGNC:7223 MPST mercaptopyruvate sulfurtransferase protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "MST|TST2|TUM1" "human liver rhodanese|tRNA thiouridin modification protein 1" 1997-05-22 2023-01-20 4357 ENSG00000128309 OTTHUMG00000150543 uc003aql.5 X59434 NM_001013440 "CCDS13939|CCDS46703" P25325 1953758 MGI:2179733 RGD:620065 602496 objectId:1446 2.8.1.2 HGNC:7223 "ENST00000429360.6|NM_021126.8" +HGNC:7223 MPST mercaptopyruvate sulfurtransferase protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "MST|TST2|TUM1" "human liver rhodanese|tRNA thiouridin modification protein 1" 1997-05-22 2023-01-20 4357 ENSG00000128309 OTTHUMG00000150543 uc003aql.5 X59434 NM_001013440 "CCDS46703|CCDS13939" P25325 1953758 MGI:2179733 RGD:620065 602496 objectId:1446 2.8.1.2 HGNC:7223 "ENST00000429360.6|NM_021126.8" HGNC:48364 MPTX1 mucosal pentraxin 1 (pseudogene) pseudogene pseudogene Approved 1q23.2 01q23.2 Short pentraxins 1143 2013-05-13 2014-03-12 649458 ENSG00000215846 OTTHUMG00000037179 NG_027744 A8MV57 MGI:1913539 RGD:1590926 PGOHUM00000245032 HGNC:48364 HGNC:7224 MPV17 mitochondrial inner membrane protein MPV17 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 SYM1 glomerulosclerosis MpV17 transgene, murine homolog, glomerulosclerosis 1994-03-21 2018-08-15 2023-01-20 4358 ENSG00000115204 OTTHUMG00000097074 uc002rjs.4 NM_002437 CCDS1748 P39210 "8281143|16582910" MGI:97138 RGD:1310512 137960 123470 HGNC:7224 "ENST00000380044.6|NM_002437.5" HGNC:7224 -HGNC:26827 MPV17L MPV17 mitochondrial inner membrane protein like protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "FLJ39599|MLPH1|MLPH2|MPV17L1" 2006-05-12 2016-03-15 2023-01-20 255027 ENSG00000156968 OTTHUMG00000129882 uc002ddn.3 DQ004255 NM_173803 "CCDS10560|CCDS45421" Q2QL34 16631601 MGI:2135951 RGD:2324483 618100 HGNC:26827 "ENST00000396385.4|NM_001128423.2" +HGNC:26827 MPV17L MPV17 mitochondrial inner membrane protein like protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "FLJ39599|MLPH1|MLPH2|MPV17L1" 2006-05-12 2016-03-15 2023-01-20 255027 ENSG00000156968 OTTHUMG00000129882 uc002ddn.3 DQ004255 NM_173803 "CCDS45421|CCDS10560" Q2QL34 16631601 MGI:2135951 RGD:2324483 618100 HGNC:26827 "ENST00000396385.4|NM_001128423.2" HGNC:28177 MPV17L2 MPV17 mitochondrial inner membrane protein like 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FKSG24|MGC12972" 2009-04-06 2016-03-15 2023-01-20 84769 ENSG00000254858 OTTHUMG00000165628 uc002nid.4 AK094091 NM_032683 CCDS42522 Q567V2 24948607 MGI:2681846 RGD:1308064 616133 HGNC:28177 "ENST00000599612.3|NM_032683.3" HGNC:54962 MPV17L2P1 MPV17L2 pseudogene 1 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 101060056 ENSG00000234413 -HGNC:7225 MPZ myelin protein zero protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "HMSNIB|CMT2I|CMT2J|P0" "CMT1|CMT1B" Charcot-Marie-Tooth neuropathy 1B "V-set domain containing|Ig-like cell adhesion molecule family" "590|1410" 1990-04-27 2008-08-01 2023-01-20 4359 ENSG00000158887 OTTHUMG00000034341 uc001gaf.4 BC006491 NM_000530 "CCDS1229|CCDS91087" P25189 7693129 MGI:103177 RGD:3109 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_256|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_256.xml" 159440 123473 HGNC:7225 "ENST00000533357.5|NM_000530.8" HGNC:7225 -HGNC:7226 MPZL1 myelin protein zero like 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "PZR|FLJ21047" V-set domain containing 590 1999-06-14 2016-01-19 2023-01-20 9019 ENSG00000197965 OTTHUMG00000034571 uc001geo.3 AF087020 NM_024569 "CCDS53425|CCDS1264|CCDS44273" O95297 9792637 MGI:1915731 RGD:1359140 604376 HGNC:7226 "ENST00000359523.7|NM_003953.6" +HGNC:7225 MPZ myelin protein zero protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "HMSNIB|CMT2I|CMT2J|P0" "CMT1|CMT1B" Charcot-Marie-Tooth neuropathy 1B "V-set domain containing|Ig-like cell adhesion molecule family" "590|1410" 1990-04-27 2008-08-01 2023-01-20 4359 ENSG00000158887 OTTHUMG00000034341 uc001gaf.4 BC006491 NM_000530 "CCDS91087|CCDS1229" P25189 7693129 MGI:103177 RGD:3109 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_256|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_256.xml" 159440 123473 HGNC:7225 "ENST00000533357.5|NM_000530.8" HGNC:7225 +HGNC:7226 MPZL1 myelin protein zero like 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "PZR|FLJ21047" V-set domain containing 590 1999-06-14 2016-01-19 2023-01-20 9019 ENSG00000197965 OTTHUMG00000034571 uc001geo.3 AF087020 NM_024569 "CCDS53425|CCDS44273|CCDS1264" O95297 9792637 MGI:1915731 RGD:1359140 604376 HGNC:7226 "ENST00000359523.7|NM_003953.6" HGNC:3496 MPZL2 myelin protein zero like 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 EVA EVA1 epithelial V-like antigen 1 "V-set domain containing|Ig-like cell adhesion molecule family" "590|1410" 1999-11-22 2007-08-01 2016-01-19 2023-01-20 10205 ENSG00000149573 OTTHUMG00000166967 uc001psn.4 AF275945 NM_005797 CCDS8393 O60487 9585423 MGI:1289160 RGD:1307196 604873 HGNC:3496 "ENST00000278937.7|NM_005797.4" HGNC:3496 HGNC:27279 MPZL3 myelin protein zero like 3 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 V-set domain containing 590 2007-07-30 2016-01-19 2023-01-20 196264 ENSG00000160588 OTTHUMG00000166966 uc001psm.5 AK095399 NM_198275 "CCDS8392|CCDS66241" Q6UWV2 17273165 MGI:2442647 RGD:1310980 611707 HGNC:27279 "ENST00000278949.9|NM_198275.3" HGNC:4975 MR1 major histocompatibility complex, class I-related protein-coding gene gene with protein product Approved 1q25.3 01q25.3 HLALS major histocompatibility complex, class I-like sequence "C1-set domain containing|Minor histocompatibility antigens" "591|870" 1995-12-20 2003-03-07 2003-03-05 2023-01-20 3140 ENSG00000153029 OTTHUMG00000035175 uc001goq.2 AF010446 NM_001531 "CCDS1342|CCDS53442|CCDS53441|CCDS53440|CCDS91120" Q95460 "7624800|9784382" MGI:1195463 RGD:1593291 600764 HGNC:4975 "ENST00000367580.6|NM_001385161.1" -HGNC:1304 MRAP melanocortin 2 receptor accessory protein protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B27|FALP|MRAP1" C21orf61 chromosome 21 open reading frame 61 2000-08-22 2005-02-07 2005-02-01 2023-05-03 56246 ENSG00000170262 OTTHUMG00000085309 uc002ypj.4 AF454915 NM_178817 "CCDS13613|CCDS13612" Q8TCY5 "12036298|15654338" MGI:1924287 RGD:1310648 609196 123478 HGNC:1304 "ENST00000303645.10|NM_001379228.1" HGNC:1304 +HGNC:1304 MRAP melanocortin 2 receptor accessory protein protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B27|FALP|MRAP1" C21orf61 chromosome 21 open reading frame 61 2000-08-22 2005-02-07 2005-02-01 2023-05-03 56246 ENSG00000170262 OTTHUMG00000085309 uc002ypj.4 AF454915 NM_178817 "CCDS13612|CCDS13613" Q8TCY5 "12036298|15654338" MGI:1924287 RGD:1310648 609196 123478 HGNC:1304 "ENST00000303645.10|NM_001379228.1" HGNC:1304 HGNC:40108 MRAP-AS1 MRAP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 Antisense RNAs 1987 2019-08-16 2019-08-16 105372779 ENSG00000232623 OTTHUMG00000085304 XR_937664 HGNC:40108 HGNC:21232 MRAP2 melanocortin 2 receptor accessory protein 2 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 bA51G5.2 C6orf117 chromosome 6 open reading frame 117 2003-05-29 2008-07-16 2008-07-16 2023-01-20 112609 ENSG00000135324 OTTHUMG00000015121 uc003pkg.5 AK090775 NM_138409 CCDS5001 Q96G30 MGI:3609239 RGD:1309873 615410 HGNC:21232 "ENST00000257776.5|NM_138409.4" -HGNC:7227 MRAS muscle RAS oncogene homolog protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "M-RAs|R-RAS3|RRAS3" RAS type GTPase family 389 1999-09-29 2023-01-20 22808 ENSG00000158186 OTTHUMG00000159888 uc003esh.5 AF022080 NM_001085049 "CCDS3100|CCDS58855" O14807 "9400994|10446149" MGI:1100856 RGD:3111 608435 HGNC:7227 "ENST00000423968.7|NM_001085049.3" HGNC:7227 +HGNC:7227 MRAS muscle RAS oncogene homolog protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "M-RAs|R-RAS3|RRAS3" RAS type GTPase family 389 1999-09-29 2023-01-20 22808 ENSG00000158186 OTTHUMG00000159888 uc003esh.5 AF022080 NM_001085049 "CCDS58855|CCDS3100" O14807 "9400994|10446149" MGI:1100856 RGD:3111 608435 HGNC:7227 "ENST00000423968.7|NM_001085049.3" HGNC:7227 HGNC:7228 MRC1 mannose receptor C-type 1 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 "CLEC13D|CD206|bA541I19.1|CLEC13DL" macrophage mannose receptor MRC1L1 "mannose receptor, C type 1-like 1|mannose receptor, C type 1" "CD molecules|Scavenger receptors|C-type lectin domain containing|MicroRNA protein coding host genes" "471|1253|1298|1691" 1992-07-30 2016-11-30 2023-01-20 4360 ENSG00000260314 OTTHUMG00000174646 uc031ptj.2 J05550 NM_002438 CCDS7123 P22897 1294118 MGI:97142 RGD:1309353 153618 CD206 HGNC:7228 "ENST00000569591.3|NM_002438.4" HGNC:16875 MRC2 mannose receptor C type 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "KIAA0709|ENDO180|CLEC13E|CD280" "C-type lectin domain family 13 member E|endocytic receptor 180" mannose receptor, C type 2 "CD molecules|C-type lectin domain containing" "471|1298" 2002-09-24 2016-04-01 2023-01-20 9902 ENSG00000011028 OTTHUMG00000179178 uc002jad.5 AB014609 NM_006039 CCDS11634 Q9UBG0 "9734811|8702911" MGI:107818 RGD:1559436 612264 CD280 HGNC:16875 "ENST00000303375.10|NM_006039.5" HGNC:7230 MRE11 MRE11 homolog, double strand break repair nuclease protein-coding gene gene with protein product Approved 11q21 11q21 ATLD AT-like disease MRE11A "MRE11 meiotic recombination 11 homolog A (S. cerevisiae)|MRE11 homolog A, double strand break repair nuclease" "BRCA1 C complex|MRN complex|MicroRNA protein coding host genes" "1336|1344|1691" 1995-05-05 2016-09-30 2016-09-30 2023-01-20 4361 ENSG00000020922 OTTHUMG00000167780 uc001peu.4 BC063458 NM_005591 "CCDS8298|CCDS81617|CCDS8299" P49959 "8530104|24316220" MGI:1100512 RGD:69263 "MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)|http://structure.bmc.lu.se/idbase/MRE11Abase/|LRG_85|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_85.xml" 600814 123483 HGNC:7230 "ENST00000323929.8|NM_005591.4" HGNC:7230 @@ -20838,7 +20840,7 @@ HGNC:54334 MRGPRX10P MAS related GPR family member X10, pseudogene pseudogene ps HGNC:54335 MRGPRX11P MAS related GPR family member X11, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2019-05-10 645415 ENSG00000254738 OTTHUMG00000166462 NG_030167 PGOHUM00000290417 HGNC:54335 HGNC:54336 MRGPRX12P MAS related GPR family member X12, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2019-05-10 645297 ENSG00000254857 OTTHUMG00000166436 NG_021810 PGOHUM00000290837 HGNC:54336 HGNC:54337 MRGPRX13P MAS related GPR family member X13, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2019-05-10 645319 ENSG00000254546 OTTHUMG00000166444 NG_021811 PGOHUM00000290838 HGNC:54337 -HGNC:28469 MRI1 methylthioribose-1-phosphate isomerase 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "MGC3207|Ypr118w|mtnA|MRDI" "mediator of RhoA-dependent invasion|S-methyl-5-thioribose-1-phosphate isomerase 1" methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) 2009-01-15 2013-05-29 2023-01-20 84245 ENSG00000037757 OTTHUMG00000180867 uc002mxe.4 NM_032285 "CCDS32923|CCDS12297" Q9BV20 "15215245|19620624|23124037" MGI:1915123 RGD:1307789 615105 5.3.1.23 HGNC:28469 "ENST00000040663.8|NM_001031727.4" +HGNC:28469 MRI1 methylthioribose-1-phosphate isomerase 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "MGC3207|Ypr118w|mtnA|MRDI" "mediator of RhoA-dependent invasion|S-methyl-5-thioribose-1-phosphate isomerase 1" methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) 2009-01-15 2013-05-29 2023-01-20 84245 ENSG00000037757 OTTHUMG00000180867 uc002mxe.4 NM_032285 "CCDS12297|CCDS32923" Q9BV20 "15215245|19620624|23124037" MGI:1915123 RGD:1307789 615105 5.3.1.23 HGNC:28469 "ENST00000040663.8|NM_001031727.4" HGNC:48649 MRLN myoregulin protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "M1|MUSER1|MLN|Linc-RAM" "muscle specific 1|muscle enriched RNA 1|Linc-RNA activator of myogenesis" LINC00948 long intergenic non-protein coding RNA 948 2013-06-03 2015-02-10 2015-02-10 2023-01-20 100507027 ENSG00000227877 OTTHUMG00000018282 "AB019391|BG210823" NM_001304732 CCDS81467 P0DMT0 "25640239|28091529" MGI:1916813 RGD:6490783 616246 HGNC:48649 "ENST00000414264.6|NM_001304731.2" HGNC:26202 MRM1 mitochondrial rRNA methyltransferase 1 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ22578 mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) SPOUT methyltransferase domain containing 1294 2005-12-13 2015-07-01 2023-01-20 79922 ENSG00000278619 OTTHUMG00000188443 uc032ggy.3 AK026231 NM_024864 CCDS32631 Q6IN84 24036117 MGI:2443470 RGD:1566232 618099 HGNC:26202 "ENST00000614766.5|NM_024864.5" HGNC:16352 MRM2 mitochondrial rRNA methyltransferase 2 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "FJH1|RRMJ2" "rRNA (uridine-2'-O-)-methyltransferase|MRM2 RNA methyltransferase homolog (S. cerevisiae)" FTSJ2 FtsJ RNA methyltransferase homolog 2 (E. coli) 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2001-11-09 2016-04-12 2016-04-12 2023-01-20 29960 ENSG00000122687 OTTHUMG00000023866 uc003slm.3 AF093415 NM_013393 CCDS5328 Q9UI43 "11827451|25009282" MGI:1915267 RGD:1305944 606906 2.1.1.- HGNC:16352 "ENST00000242257.14|NM_013393.3" @@ -20847,7 +20849,7 @@ HGNC:44905 MRM3P1 MRM3 pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p1 HGNC:44906 MRM3P2 MRM3 pseudogene 2 pseudogene pseudogene Approved 7p21.1 07p21.1 RNMTL1P2 RNA methyltransferase like 1 pseudogene 2 2012-12-18 2021-03-24 2021-03-24 2021-03-24 100420223 ENSG00000236195 OTTHUMG00000152741 NG_026539 PGOHUM00000233140 HGNC:44906 HGNC:30817 MRNIP MRN complex interacting protein protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "MGC65027|MGC78537|DKFZp686L2452|LOC51149" "truncated calcium binding protein|MRN-interacting protein" C5orf45 chromosome 5 open reading frame 45 2008-07-02 2016-09-30 2016-09-30 2023-01-20 51149 ENSG00000161010 OTTHUMG00000163490 uc003mla.4 NM_016175 "CCDS34318|CCDS34319" Q6NTE8 27568553 MGI:1915317 RGD:1564036 617154 HGNC:30817 "ENST00000292586.11|NM_016175.4" HGNC:56030 MRNIP-DT MRNIP divergent transcript non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Divergent transcripts 1990 2021-12-03 2021-12-03 100996419 ENSG00000245317 NR_134283 -HGNC:24121 MRO maestro protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "B29|FLJ30140" "B29 protein|beside the Ma29 deletion" C18orf3 chromosome 18 open reading frame 3 Maestro heat like repeat containing 636 2004-04-26 2004-06-15 2023-01-20 83876 ENSG00000134042 OTTHUMG00000132692 uc002lex.4 AK054702 NM_031939 "CCDS45867|CCDS11947|CCDS45869|CCDS45868" Q9BYG7 11401430 MGI:2152817 RGD:1559803 608080 HGNC:24121 "ENST00000398439.8|NM_031939.6" +HGNC:24121 MRO maestro protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "B29|FLJ30140" "B29 protein|beside the Ma29 deletion" C18orf3 chromosome 18 open reading frame 3 Maestro heat like repeat containing 636 2004-04-26 2004-06-15 2023-01-20 83876 ENSG00000134042 OTTHUMG00000132692 uc002lex.4 AK054702 NM_031939 "CCDS11947|CCDS45868|CCDS45867|CCDS45869" Q9BYG7 11401430 MGI:2152817 RGD:1559803 608080 HGNC:24121 "ENST00000398439.8|NM_031939.6" HGNC:50323 MROCKI MARCKS cis regulating lncRNA promoter of cytokines and inflammation non-coding RNA RNA, long non-coding Approved 6q21 06q21 "LOC285758|ROCKI" regulator of cytokines and inflammation LINC01268 long intergenic non-protein coding RNA 1268 Long non-coding RNAs with non-systematic symbols 1992 2014-04-10 2019-07-11 2019-07-11 2019-07-11 285758 ENSG00000227502 OTTHUMG00000015405 BC037331 NR_038863 "24821221|28959170|30918008" LINC01268 HGNC:50323 HGNC:26958 MROH1 maestro heat like repeat family member 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA1833 HEATR7A "HEAT repeat containing 7A|maestro heat-like repeat family member 1" Maestro heat like repeat containing 636 2008-11-21 2012-12-19 2016-01-22 2023-01-20 727957 ENSG00000179832 OTTHUMG00000165781 uc064rjm.1 NM_032450 "CCDS47939|CCDS75803|CCDS47938" Q8NDA8 11347906 MGI:2442558 RGD:1642414 HGNC:26958 "ENST00000326134.10|NM_032450.3" HGNC:27936 MROH2A maestro heat like repeat family member 2A protein-coding gene gene with protein product Approved 2q37.1 02q37.1 HEATR7B1 "HEAT repeat containing 7B1|maestro heat-like repeat family member 2A" Maestro heat like repeat containing 636 2008-11-21 2012-12-19 2016-01-22 2023-03-15 339766 ENSG00000185038 OTTHUMG00000059037 uc002vvc.2 NM_001287395 CCDS92974 A6NES4 12477932 MGI:3705228 RGD:1565687 HGNC:27936 "ENST00000389758.4|NM_001394639.1" @@ -20859,17 +20861,17 @@ HGNC:27814 MROH6 maestro heat like repeat family member 6 protein-coding gene ge HGNC:24802 MROH7 maestro heat like repeat family member 7 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ46354 "C1orf175|HEATR8" "chromosome 1 open reading frame 175|HEAT repeat containing 8|maestro heat-like repeat family member 7" Maestro heat like repeat containing 636 2005-07-21 2012-12-19 2016-01-22 2023-03-15 374977 ENSG00000184313 OTTHUMG00000009890 uc010ooe.2 AL832492 NM_198547 CCDS41342 Q68CQ1 12477932 MGI:2685873 RGD:1563440 HGNC:24802 "ENST00000421030.7|NM_001039464.4" HGNC:49180 MROH7-TTC4 MROH7-TTC4 readthrough (NMD candidate) other readthrough Approved 1p32.3 01p32.3 2013-09-25 2013-09-25 100527960 ENSG00000271723 OTTHUMG00000185328 NR_037639 HGNC:49180 HGNC:16125 MROH8 maestro heat like repeat family member 8 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "dJ621N11.4|dJ621N11.3" hypothetical protein LOC140699 "C20orf131|C20orf132" "chromosome 20 open reading frame 131|chromosome 20 open reading frame 132|maestro heat-like repeat family member 8" Maestro heat like repeat containing 636 2001-07-17 2012-12-19 2016-01-22 2016-10-05 140699 ENSG00000101353 OTTHUMG00000032407 uc061wut.1 AL136172 NM_152503 Q9H579 "11780052|15635413" MGI:3603828 RGD:2321481 HGNC:16125 -HGNC:26287 MROH9 maestro heat like repeat family member 9 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "FLJ23550|ARMC11" C1orf129 "chromosome 1 open reading frame 129|maestro heat-like repeat family member 9" Maestro heat like repeat containing 636 2005-06-29 2012-12-19 2016-01-22 2023-01-20 80133 ENSG00000117501 OTTHUMG00000041456 uc001ghg.4 AK027203 NM_025063 "CCDS41436|CCDS53429" Q5TGP6 MGI:1925508 RGD:1564745 HGNC:26287 "ENST00000367759.9|NM_001163629.2" +HGNC:26287 MROH9 maestro heat like repeat family member 9 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "FLJ23550|ARMC11" C1orf129 "chromosome 1 open reading frame 129|maestro heat-like repeat family member 9" Maestro heat like repeat containing 636 2005-06-29 2012-12-19 2016-01-22 2023-01-20 80133 ENSG00000117501 OTTHUMG00000041456 uc001ghg.4 AK027203 NM_025063 "CCDS53429|CCDS41436" Q5TGP6 MGI:1925508 RGD:1564745 HGNC:26287 "ENST00000367759.9|NM_001163629.2" HGNC:14275 MRPL1 mitochondrial ribosomal protein L1 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 BM022 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2023-01-20 65008 ENSG00000169288 OTTHUMG00000130200 uc003hku.3 AB049474 NM_020236 CCDS3583 Q9BYD6 MGI:2137202 RGD:1306850 611821 HGNC:14275 "ENST00000315567.13|NM_020236.4" HGNC:14056 MRPL2 mitochondrial ribosomal protein L2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "MRP-L14|RPML14|CGI-22" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2023-01-20 51069 ENSG00000112651 OTTHUMG00000014719 uc003ots.2 AB051617 NM_001300848 "CCDS34454|CCDS75458" Q5T653 MGI:1351622 RGD:1307147 611822 HGNC:14056 "ENST00000388752.8|NM_015950.5" HGNC:29698 MRPL2P1 mitochondrial ribosomal protein L2 pseudogene 1 pseudogene pseudogene Approved 12q21.33 12q21.33 2004-10-14 2012-11-14 347894 ENSG00000257480 OTTHUMG00000169948 AY135252 NG_002838 12706105 PGOHUM00000239886 HGNC:29698 HGNC:10379 MRPL3 mitochondrial ribosomal protein L3 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 MRL3 RPML3 "Mitochondrial ribosomal proteins|Small nucleolar RNA protein coding host genes|Large subunit mitochondrial ribosomal proteins" "646|1835|1994" 1999-09-16 2023-01-20 11222 ENSG00000114686 OTTHUMG00000159607 uc003eoh.4 X06323 NM_007208 CCDS3071 P09001 2891103 MGI:2137204 RGD:1306391 607118 325132 HGNC:10379 "ENST00000264995.8|NM_007208.4" HGNC:10379 HGNC:29701 MRPL3P1 mitochondrial ribosomal protein L3 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 2010-09-29 2010-09-29 359739 ENSG00000215349 OTTHUMG00000016485 NG_002855 12706105 PGOHUM00000248307 HGNC:29701 -HGNC:14276 MRPL4 mitochondrial ribosomal protein L4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 CGI-28 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2023-01-20 51073 ENSG00000105364 OTTHUMG00000180400 uc060tfq.1 AB049635 NM_001411149 "CCDS12230|CCDS42499|CCDS92511" Q9BYD3 MGI:2137210 RGD:1311777 611823 HGNC:14276 "ENST00000253099.11|NM_015956.3" +HGNC:14276 MRPL4 mitochondrial ribosomal protein L4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 CGI-28 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2023-01-20 51073 ENSG00000105364 OTTHUMG00000180400 uc060tfq.1 AB049635 NM_001411149 "CCDS42499|CCDS12230|CCDS92511" Q9BYD3 MGI:2137210 RGD:1311777 611823 HGNC:14276 "ENST00000253099.11|NM_015956.3" HGNC:14277 MRPL9 mitochondrial ribosomal protein L9 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Mitochondrial ribosomal proteins 646 2001-02-28 2023-01-20 65005 ENSG00000143436 OTTHUMG00000013063 uc001eyv.4 AK026363 NM_031420 "CCDS1003|CCDS72916" Q9BYD2 MGI:2137211 RGD:1359171 611824 HGNC:14277 "ENST00000368830.8|NM_031420.4" HGNC:29726 MRPL9P1 mitochondrial ribosomal protein L9 pseudogene 1 pseudogene pseudogene Approved 8q21.13 08q21.13 2004-09-22 2017-10-30 137290 ENSG00000254305 OTTHUMG00000164556 NG_001539 12706105 PGOHUM00000303258 HGNC:29726 HGNC:14055 MRPL10 mitochondrial ribosomal protein L10 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "RPML8|MRP-L8|L10MT|MRP-L10|MRPL8|MGC17973" 39S ribosomal protein L10, mitochondrial "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2023-01-20 124995 ENSG00000159111 OTTHUMG00000156302 uc002ilz.4 AB051618 NM_145255 "CCDS11517|CCDS11516" Q7Z7H8 11551941 MGI:1333801 RGD:1588626 611825 HGNC:14055 "ENST00000351111.7|NM_145255.4" -HGNC:14042 MRPL11 mitochondrial ribosomal protein L11 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2023-01-20 65003 ENSG00000174547 OTTHUMG00000167097 uc001ohz.5 AB051338 NM_016050 "CCDS8139|CCDS44655|CCDS8140" Q9Y3B7 MGI:2137215 RGD:1359665 611826 HGNC:14042 "ENST00000310999.11|NM_016050.5" +HGNC:14042 MRPL11 mitochondrial ribosomal protein L11 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2023-01-20 65003 ENSG00000174547 OTTHUMG00000167097 uc001ohz.5 AB051338 NM_016050 "CCDS8139|CCDS8140|CCDS44655" Q9Y3B7 MGI:2137215 RGD:1359665 611826 HGNC:14042 "ENST00000310999.11|NM_016050.5" HGNC:29694 MRPL11P2 mitochondrial ribosomal protein L11 pseudogene 2 pseudogene pseudogene Approved 5q31.3 05q31.3 2005-06-28 2005-08-09 134008 AY135247 NG_002416 12706105 HGNC:29694 HGNC:29695 MRPL11P3 mitochondrial ribosomal protein L11 pseudogene 3 pseudogene pseudogene Approved 12q21.2 12q21.2 2004-10-14 2004-10-14 359734 AY135248 NG_002850 12706105 HGNC:29695 HGNC:10378 MRPL12 mitochondrial ribosomal protein L12 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MRPL7/L12|MRPL7" RPML12 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 1997-02-14 2023-01-20 6182 ENSG00000262814 OTTHUMG00000178171 uc002kbh.3 X79865 NM_002949 CCDS11785 P52815 "8626705|9169145" MGI:1926273 RGD:1588559 602375 470686 HGNC:10378 "ENST00000333676.8|NM_002949.4" @@ -20886,10 +20888,10 @@ HGNC:14478 MRPL20 mitochondrial ribosomal protein L20 protein-coding gene gene w HGNC:27125 MRPL20-AS1 MRPL20 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Antisense RNAs 1987 2018-09-26 2018-09-26 148413 ENSG00000224870 OTTHUMG00000002908 NR_015434 HGNC:27125 HGNC:54814 MRPL20-DT MRPL20 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Divergent transcripts 1990 2020-01-17 2020-07-16 116435301 ENSG00000272455 NR_170330 32079618 HGNC:29699 MRPL20P1 mitochondrial ribosomal protein L20 pseudogene 1 pseudogene pseudogene Approved 21q22.13 21q22.13 2008-06-05 2008-06-05 2014-02-12 359737 ENSG00000215734 OTTHUMG00000086645 NG_002853 12706105 PGOHUM00000239173 HGNC:29699 -HGNC:14479 MRPL21 mitochondrial ribosomal protein L21 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2023-01-20 219927 ENSG00000197345 OTTHUMG00000167893 uc001ooi.4 AK096756 NM_181512 "CCDS44662|CCDS8186" Q7Z2W9 11551941 MGI:2660674 RGD:1310203 611834 HGNC:14479 "ENST00000362034.7|NM_181514.2" -HGNC:14480 MRPL22 mitochondrial ribosomal protein L22 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "MRP-L25|RPML25|HSPC158" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2023-01-20 29093 ENSG00000082515 OTTHUMG00000130190 uc003lvy.5 AB051622 NM_001014990 "CCDS4331|CCDS43391" Q9NWU5 MGI:1333794 RGD:1309277 611835 HGNC:14480 "ENST00000523037.6|NM_014180.4" +HGNC:14479 MRPL21 mitochondrial ribosomal protein L21 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2023-01-20 219927 ENSG00000197345 OTTHUMG00000167893 uc001ooi.4 AK096756 NM_181512 "CCDS8186|CCDS44662" Q7Z2W9 11551941 MGI:2660674 RGD:1310203 611834 HGNC:14479 "ENST00000362034.7|NM_181514.2" +HGNC:14480 MRPL22 mitochondrial ribosomal protein L22 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "MRP-L25|RPML25|HSPC158" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2023-01-20 29093 ENSG00000082515 OTTHUMG00000130190 uc003lvy.5 AB051622 NM_001014990 "CCDS43391|CCDS4331" Q9NWU5 MGI:1333794 RGD:1309277 611835 HGNC:14480 "ENST00000523037.6|NM_014180.4" HGNC:29700 MRPL22P1 mitochondrial ribosomal protein L22 pseudogene 1 pseudogene pseudogene Approved 4q12 04q12 2010-09-29 2010-09-29 359738 ENSG00000250324 OTTHUMG00000160812 NG_002854 12706105 PGOHUM00000245538 HGNC:29700 -HGNC:10322 MRPL23 mitochondrial ribosomal protein L23 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 L23MRP RPL23L "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 1996-05-15 2023-01-20 6150 ENSG00000214026 OTTHUMG00000012476 uc001lux.4 AB051340 NM_021134 "CCDS31336|CCDS91407|CCDS91408" Q16540 8541832 MGI:1196612 RGD:68343 600789 HGNC:10322 "ENST00000397298.8|NM_021134.4" +HGNC:10322 MRPL23 mitochondrial ribosomal protein L23 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 L23MRP RPL23L "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 1996-05-15 2023-01-20 6150 ENSG00000214026 OTTHUMG00000012476 uc001lux.4 AB051340 NM_021134 "CCDS91408|CCDS91407|CCDS31336" Q16540 8541832 MGI:1196612 RGD:68343 600789 HGNC:10322 "ENST00000397298.8|NM_021134.4" HGNC:42812 MRPL23-AS1 MRPL23 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 TP53LC10 MRPL23 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-18 2012-08-15 2022-07-22 100133545 ENSG00000226416 OTTHUMG00000012474 uc010qxh.3 NR_024471 "32098781|35609991" MRPL23-AS1 HGNC:42812 HGNC:14037 MRPL24 mitochondrial ribosomal protein L24 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 MRP-L18 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2023-01-20 79590 ENSG00000143314 OTTHUMG00000041296 uc001fpw.2 AB051341 NM_145729 CCDS1155 Q96A35 MGI:1914957 RGD:1359289 611836 HGNC:14037 "ENST00000361531.6|NM_145729.3" HGNC:14483 MRPL27 mitochondrial ribosomal protein L27 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2023-01-20 51264 ENSG00000108826 OTTHUMG00000162062 uc002iqq.4 AB049647 NM_016504 CCDS11564 Q9P0M9 MGI:2137224 RGD:1309090 611837 HGNC:14483 "ENST00000225969.9|NM_016504.3" @@ -20900,9 +20902,9 @@ HGNC:29703 MRPL30P2 mitochondrial ribosomal protein L30 pseudogene 2 pseudogene HGNC:14035 MRPL32 mitochondrial ribosomal protein L32 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "HSPC283|L32mt|MRP-L32|bMRP-59b" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2023-01-20 64983 ENSG00000106591 OTTHUMG00000155180 uc003tia.4 AB051343 NM_031903 CCDS5468 Q9BYC8 11543634 MGI:2137226 RGD:1310541 611839 HGNC:14035 "ENST00000223324.3|NM_031903.3" HGNC:29704 MRPL32P1 MRPL32 pseudogene 1 pseudogene pseudogene Approved Xp11.23 Xp11.23 mitochondrial ribosomal protein L32 pseudogene 1 2010-09-29 2020-05-07 2020-05-07 359741 ENSG00000220125 OTTHUMG00000048056 NG_002857 12706105 PGOHUM00000241288 HGNC:29704 HGNC:54964 MRPL32P2 MRPL32 pseudogene 2 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 117751735 ENSG00000229037 NG_070703 -HGNC:14487 MRPL33 mitochondrial ribosomal protein L33 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 RPL33L C2orf1 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2023-01-20 9553 ENSG00000243147 OTTHUMG00000097795 uc002rlm.1 AB051623 NM_004891 "CCDS1761|CCDS33167" O75394 MGI:2137225 RGD:2322809 610059 HGNC:14487 "ENST00000296102.8|NM_004891.4" +HGNC:14487 MRPL33 mitochondrial ribosomal protein L33 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 RPL33L C2orf1 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2023-01-20 9553 ENSG00000243147 OTTHUMG00000097795 uc002rlm.1 AB051623 NM_004891 "CCDS33167|CCDS1761" O75394 MGI:2137225 RGD:2322809 610059 HGNC:14487 "ENST00000296102.8|NM_004891.4" HGNC:14488 MRPL34 mitochondrial ribosomal protein L34 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "L34mt|MGC2633|MGC24974" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2023-01-20 64981 ENSG00000130312 OTTHUMG00000182764 uc060vgo.1 AB049652 NM_023937 "CCDS12356|CCDS92555" Q9BQ48 11543634 MGI:2137227 RGD:1359397 611840 HGNC:14488 "ENST00000252602.2|NM_023937.4" -HGNC:14489 MRPL35 mitochondrial ribosomal protein L35 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2023-01-20 51318 ENSG00000132313 OTTHUMG00000037385 uc002srg.5 AF208849 NM_016622 "CCDS1987|CCDS1988|CCDS86858" Q9NZE8 "11042152|11551941" MGI:1913473 RGD:1307065 611841 HGNC:14489 "ENST00000337109.9|NM_016622.4" +HGNC:14489 MRPL35 mitochondrial ribosomal protein L35 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2023-01-20 51318 ENSG00000132313 OTTHUMG00000037385 uc002srg.5 AF208849 NM_016622 "CCDS1988|CCDS1987|CCDS86858" Q9NZE8 "11042152|11551941" MGI:1913473 RGD:1307065 611841 HGNC:14489 "ENST00000337109.9|NM_016622.4" HGNC:29705 MRPL35P1 mitochondrial ribosomal protein L35 pseudogene 1 pseudogene pseudogene Approved 6p23 06p23 2010-09-29 2010-09-29 359742 ENSG00000220868 OTTHUMG00000014281 NG_002858 12706105 PGOHUM00000243490 HGNC:29705 HGNC:29706 MRPL35P2 mitochondrial ribosomal protein L35 pseudogene 2 pseudogene pseudogene Approved 10q21.3 10q21.3 2010-09-29 2010-09-29 359743 ENSG00000232075 OTTHUMG00000018319 NG_002859 12706105 PGOHUM00000238501 HGNC:29706 HGNC:23731 MRPL35P3 mitochondrial ribosomal protein L35 pseudogene 3 pseudogene pseudogene Approved 10q22.2 10q22.2 2003-12-04 2014-02-12 359744 ENSG00000226253 OTTHUMG00000018504 AY135263 NG_002860 PGOHUM00000238844 HGNC:23731 @@ -20923,14 +20925,14 @@ HGNC:29712 MRPL42P3 mitochondrial ribosomal protein L42 pseudogene 3 pseudogene HGNC:29713 MRPL42P4 mitochondrial ribosomal protein L42 pseudogene 4 pseudogene pseudogene Approved 7p12.3 07p12.3 2010-09-29 2010-09-29 346470 ENSG00000242552 OTTHUMG00000155552 NG_002908 12706105 PGOHUM00000232682 HGNC:29713 HGNC:29714 MRPL42P5 mitochondrial ribosomal protein L42 pseudogene 5 pseudogene pseudogene Approved 15q15.1 15q15.1 2004-01-20 2014-11-19 359821 NG_002914 12706105 PGOHUM00000246757 HGNC:29714 HGNC:44533 MRPL42P6 mitochondrial ribosomal protein L42 pseudogene 6 pseudogene pseudogene Approved 3q25.1 03q25.1 2012-11-14 2012-11-14 106480794 ENSG00000242810 OTTHUMG00000159862 NG_044124 PGOHUM00000261370 HGNC:44533 -HGNC:14517 MRPL43 mitochondrial ribosomal protein L43 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 bMRP36a "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-05-30 2023-01-20 84545 ENSG00000055950 OTTHUMG00000018920 uc001ksd.2 AB049656 NM_001308396 "CCDS7505|CCDS91321|CCDS76331|CCDS7504|CCDS91322|CCDS7502|CCDS7503" Q8N983 MGI:2137229 RGD:1307593 611848 HGNC:14517 "ENST00000318364.13|NM_032112.3" +HGNC:14517 MRPL43 mitochondrial ribosomal protein L43 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 bMRP36a "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-05-30 2023-01-20 84545 ENSG00000055950 OTTHUMG00000018920 uc001ksd.2 AB049656 NM_001308396 "CCDS7503|CCDS7504|CCDS91322|CCDS7505|CCDS91321|CCDS76331|CCDS7502" Q8N983 MGI:2137229 RGD:1307593 611848 HGNC:14517 "ENST00000318364.13|NM_032112.3" HGNC:16650 MRPL44 mitochondrial ribosomal protein L44 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "FLJ12701|FLJ13990" 39S ribosomal protein L44, mitochondrial "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 65080 ENSG00000135900 OTTHUMG00000133164 uc002vnr.4 AK022763 NM_022915 CCDS2459 Q9H9J2 MGI:1916413 RGD:1309556 611849 356136 HGNC:16650 "ENST00000258383.4|NM_022915.5" HGNC:16650 -HGNC:16651 MRPL45 mitochondrial ribosomal protein L45 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC11321|Mba1" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 84311 ENSG00000278845 OTTHUMG00000188489 uc032gkt.2 BC006235 NM_032351 "CCDS74047|CCDS11326" Q9BRJ2 "11551941|12706105" MGI:1914286 RGD:1304913 611850 HGNC:16651 "ENST00000613675.5|NM_032351.6" +HGNC:16651 MRPL45 mitochondrial ribosomal protein L45 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC11321|Mba1" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 84311 ENSG00000278845 OTTHUMG00000188489 uc032gkt.2 BC006235 NM_032351 "CCDS11326|CCDS74047" Q9BRJ2 "11551941|12706105" MGI:1914286 RGD:1304913 611850 HGNC:16651 "ENST00000613675.5|NM_032351.6" HGNC:29715 MRPL45P1 mitochondrial ribosomal protein L45 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 2010-09-29 2010-09-29 359747 ENSG00000232508 OTTHUMG00000155050 NG_002863 12706105 PGOHUM00000240139 HGNC:29715 HGNC:29716 MRPL45P2 mitochondrial ribosomal protein L45 pseudogene 2 pseudogene pseudogene Approved 17q21.32 17q21.32 2010-09-29 2023-02-01 653479 ENSG00000228782 NR_033934 12706105 HGNC:29716 HGNC:1192 MRPL46 mitochondrial ribosomal protein L46 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "LIECG2|P2ECSL" C15orf4 chromosome 15 open reading frame 4 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 1999-12-01 2001-12-14 2001-12-10 2023-01-20 26589 ENSG00000259494 OTTHUMG00000148683 uc002bmj.3 AF210056 NM_022163 CCDS10341 Q9H2W6 "11761714|11551941" MGI:1914558 RGD:1309123 611851 HGNC:1192 "ENST00000312475.5|NM_022163.4" HGNC:16652 MRPL47 mitochondrial ribosomal protein L47 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "CGI-204|NCM1" nasopharyngeal carcinoma metastasis-related 1 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 57129 ENSG00000136522 OTTHUMG00000157784 uc003fjz.5 AF285120 NM_020409 "CCDS3233|CCDS3232" Q9HD33 11551941 MGI:1921850 RGD:1307531 611852 HGNC:16652 "ENST00000476781.6|NM_020409.3" -HGNC:16653 MRPL48 mitochondrial ribosomal protein L48 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 CGI-118 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 51642 ENSG00000175581 OTTHUMG00000168048 uc001ouh.5 AF151876 NM_016055 "CCDS44676|CCDS81594" Q96GC5 10810093 MGI:1289321 RGD:1307576 611853 HGNC:16653 "ENST00000310614.12|NM_016055.6" +HGNC:16653 MRPL48 mitochondrial ribosomal protein L48 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 CGI-118 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 51642 ENSG00000175581 OTTHUMG00000168048 uc001ouh.5 AF151876 NM_016055 "CCDS81594|CCDS44676" Q96GC5 10810093 MGI:1289321 RGD:1307576 611853 HGNC:16653 "ENST00000310614.12|NM_016055.6" HGNC:21379 MRPL48P1 mitochondrial ribosomal protein L48 pseudogene 1 pseudogene pseudogene Approved 6p24.3 06p24.3 "MRPL48L1|dJ290I10.4" 2003-06-11 2014-11-18 221717 ENSG00000238076 OTTHUMG00000014231 AY135273 NG_002430 PGOHUM00000243061 HGNC:21379 HGNC:1176 MRPL49 mitochondrial ribosomal protein L49 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "NOF|NOF1|L49mt" "neighbor of FAU|next to FAU" C11orf4 chromosome 11 open reading frame 4 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 1998-08-06 2001-10-19 2001-10-16 2023-01-20 740 ENSG00000149792 OTTHUMG00000165608 uc001oda.3 NM_004927 CCDS8096 Q13405 8786148 MGI:108180 RGD:1309920 606866 HGNC:1176 "ENST00000279242.7|NM_004927.4" HGNC:29717 MRPL49P1 mitochondrial ribosomal protein L49 pseudogene 1 pseudogene pseudogene Approved 5q12.3 05q12.3 2010-09-29 2010-09-29 359748 ENSG00000224296 OTTHUMG00000162389 NG_002864 12706105 PGOHUM00000251370 HGNC:29717 @@ -20943,11 +20945,11 @@ HGNC:29722 MRPL50P4 mitochondrial ribosomal protein L50 pseudogene 4 pseudogene HGNC:14044 MRPL51 mitochondrial ribosomal protein L51 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CDA09|HSPC241|bMRP64" MRP64 mitochondrial ribosomal protein 64 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-05-29 2002-01-11 2002-01-07 2023-01-20 51258 ENSG00000111639 OTTHUMG00000168512 uc001qom.3 AB051355 NM_016497 CCDS8547 Q4U2R6 "11551941|11543634" MGI:1913743 RGD:1306686 611855 HGNC:14044 "ENST00000229238.5|NM_016497.4" HGNC:29723 MRPL51P1 mitochondrial ribosomal protein L51 pseudogene 1 pseudogene pseudogene Approved 4p15.2 04p15.2 2004-09-27 2004-09-27 351773 AY135280 NG_002843 12706105 HGNC:29723 HGNC:29724 MRPL51P2 mitochondrial ribosomal protein L51 pseudogene 2 pseudogene pseudogene Approved 21q22.3 21q22.3 2004-09-27 2017-05-31 343819 ENSG00000232777 OTTHUMG00000086843 AY135281 NG_002834 12706105 PGOHUM00000297270 HGNC:29724 -HGNC:16655 MRPL52 mitochondrial ribosomal protein L52 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 122704 ENSG00000172590 OTTHUMG00000028703 uc001wgx.5 AK000450 NM_180982 "CCDS9575|CCDS41917|CCDS9576|CCDS81791|CCDS41918" Q86TS9 "11551941|11943462" MGI:1916086 RGD:1309297 611856 HGNC:16655 "ENST00000397496.7|NM_180982.3" +HGNC:16655 MRPL52 mitochondrial ribosomal protein L52 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 122704 ENSG00000172590 OTTHUMG00000028703 uc001wgx.5 AK000450 NM_180982 "CCDS41917|CCDS81791|CCDS9575|CCDS41918|CCDS9576" Q86TS9 "11551941|11943462" MGI:1916086 RGD:1309297 611856 HGNC:16655 "ENST00000397496.7|NM_180982.3" HGNC:16684 MRPL53 mitochondrial ribosomal protein L53 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 116540 ENSG00000204822 OTTHUMG00000129961 uc002sln.4 BC012163 NM_053050 CCDS1944 Q96EL3 11551941 MGI:1915749 RGD:1306709 611857 HGNC:16684 "ENST00000258105.8|NM_053050.5" HGNC:29725 MRPL53P1 mitochondrial ribosomal protein L53 pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 2010-09-29 2010-09-29 359752 ENSG00000235299 OTTHUMG00000011904 NG_002868 12706105 PGOHUM00000244146 HGNC:29725 HGNC:16685 MRPL54 mitochondrial ribosomal protein L54 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 116541 ENSG00000183617 OTTHUMG00000180873 uc002lyq.5 NM_172251 CCDS12111 Q6P161 11551941 MGI:1913297 RGD:1305694 611858 HGNC:16685 "ENST00000330133.5|NM_172251.3" -HGNC:16686 MRPL55 mitochondrial ribosomal protein L55 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 128308 ENSG00000162910 OTTHUMG00000037965 uc001hsa.5 AK056987 NM_181454 "CCDS44325|CCDS1567" Q7Z7F7 MGI:1914462 RGD:1308161 611859 HGNC:16686 "ENST00000336520.8|NM_181463.3" +HGNC:16686 MRPL55 mitochondrial ribosomal protein L55 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2023-01-20 128308 ENSG00000162910 OTTHUMG00000037965 uc001hsa.5 AK056987 NM_181454 "CCDS1567|CCDS44325" Q7Z7F7 MGI:1914462 RGD:1308161 611859 HGNC:16686 "ENST00000336520.8|NM_181463.3" HGNC:14514 MRPL57 mitochondrial ribosomal protein L57 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 MRP63 mitochondrial ribosomal protein 63 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-05-30 2014-02-10 2014-02-10 2023-01-20 78988 ENSG00000173141 OTTHUMG00000016532 AB049957 NM_024026 CCDS9296 Q9BQC6 23908630 MGI:1915090 RGD:1594654 611997 HGNC:14514 "ENST00000309594.5|NM_024026.5" HGNC:29686 MRPL57P1 mitochondrial ribosomal protein L57 pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 MRP63P1 mitochondrial ribosomal protein 63 pseudogene 1 2004-09-22 2014-02-10 2014-02-10 2015-06-09 126581 ENSG00000273698 OTTHUMG00000187529 AY135236 NG_002827 12706105 PGOHUM00000295797 HGNC:29686 HGNC:29687 MRPL57P2 mitochondrial ribosomal protein L57 pseudogene 2 pseudogene pseudogene Approved 1q42.13 01q42.13 MRP63P2 mitochondrial ribosomal protein 63 pseudogene 2 2004-10-11 2014-02-10 2014-02-10 2014-02-10 359729 AY135237 NG_002845 12706105 HGNC:29687 @@ -20983,7 +20985,7 @@ HGNC:14049 MRPS14 mitochondrial ribosomal protein S14 protein-coding gene gene w HGNC:14504 MRPS15 mitochondrial ribosomal protein S15 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ11564 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2023-01-20 64960 ENSG00000116898 OTTHUMG00000008042 uc001cas.3 AB049946 NM_031280 CCDS411 P82914 MGI:1913657 RGD:1359675 611979 HGNC:14504 "ENST00000373116.6|NM_031280.4" HGNC:29730 MRPS15P1 mitochondrial ribosomal protein S15 pseudogene 1 pseudogene pseudogene Approved 15q24.1 15q24.1 2010-09-29 2017-10-30 359755 ENSG00000259186 OTTHUMG00000172554 NG_002871 12706105 PGOHUM00000293011 HGNC:29730 HGNC:29731 MRPS15P2 mitochondrial ribosomal protein S15 pseudogene 2 pseudogene pseudogene Approved 19q13.31 19q13.31 2010-09-29 2010-09-29 359756 OTTHUMG00000182355 NG_002872 12706105 PGOHUM00000234717 HGNC:29731 -HGNC:14048 MRPS16 mitochondrial ribosomal protein S16 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 CGI-132 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-02-28 2023-01-20 51021 ENSG00000182180 OTTHUMG00000018454 uc001jts.1 AB051351 NM_001410935 "CCDS91261|CCDS7323" Q9Y3D3 10810093 MGI:1913492 RGD:1582995 609204 267232 HGNC:14048 "ENST00000372945.8|NM_016065.4" HGNC:14048 +HGNC:14048 MRPS16 mitochondrial ribosomal protein S16 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 CGI-132 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-02-28 2023-01-20 51021 ENSG00000182180 OTTHUMG00000018454 uc001jts.1 AB051351 NM_001410935 "CCDS7323|CCDS91261" Q9Y3D3 10810093 MGI:1913492 RGD:1582995 609204 267232 HGNC:14048 "ENST00000372945.8|NM_016065.4" HGNC:14048 HGNC:29732 MRPS16P1 mitochondrial ribosomal protein S16 pseudogene 1 pseudogene pseudogene Approved 8q21.3 08q21.3 2004-10-11 2012-11-14 137406 ENSG00000229182 OTTHUMG00000164065 AY135292 NG_002648 12706105 PGOHUM00000249744 HGNC:29732 HGNC:16541 MRPS16P2 mitochondrial ribosomal protein S16 pseudogene 2 pseudogene pseudogene Approved 20q13.32 20q13.32 bA379F14.1 MRPS16P mitochondrial ribosomal protein S16 pseudogene 2001-09-17 2012-11-14 2012-11-14 2014-11-19 128609 ENSG00000232925 OTTHUMG00000032863 NG_000968 PGOHUM00000247683 HGNC:16541 HGNC:29733 MRPS16P3 mitochondrial ribosomal protein S16 pseudogene 3 pseudogene pseudogene Approved 22q12.3 22q12.3 2004-09-27 2012-11-14 338388 ENSG00000226336 OTTHUMG00000150587 AY135294 NG_002649 12706105 PGOHUM00000246577 HGNC:29733 @@ -20994,7 +20996,7 @@ HGNC:29737 MRPS17P5 mitochondrial ribosomal protein S17 pseudogene 5 pseudogene HGNC:29738 MRPS17P6 mitochondrial ribosomal protein S17 pseudogene 6 pseudogene pseudogene Approved 14q11.2 14q11.2 2010-09-29 2010-09-29 359759 NG_002875 12706105 HGNC:29738 HGNC:29735 MRPS17P7 mitochondrial ribosomal protein S17 pseudogene 7 pseudogene pseudogene Approved 18q21.31 18q21.31 2005-06-28 2012-11-14 342776 AY135298 NG_004091 12706105 PGOHUM00000234938 HGNC:29735 HGNC:29739 MRPS17P9 mitochondrial ribosomal protein S17 pseudogene 9 pseudogene pseudogene Approved Xq24 Xq24 2010-09-29 2010-09-29 359760 ENSG00000227814 OTTHUMG00000022270 NG_002876 12706105 PGOHUM00000250086 HGNC:29739 -HGNC:14515 MRPS18A mitochondrial ribosomal protein S18A protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "FLJ10548|MRPS18-3" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-05-30 2023-01-20 55168 ENSG00000096080 OTTHUMG00000014750 uc003ovy.3 AB049952 NM_018135 "CCDS55006|CCDS4906" Q9NVS2 "11279123|11543634" MGI:1915815 RGD:735229 611981 HGNC:14515 "ENST00000372133.8|NM_018135.4" +HGNC:14515 MRPS18A mitochondrial ribosomal protein S18A protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "FLJ10548|MRPS18-3" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-05-30 2023-01-20 55168 ENSG00000096080 OTTHUMG00000014750 uc003ovy.3 AB049952 NM_018135 "CCDS4906|CCDS55006" Q9NVS2 "11279123|11543634" MGI:1915815 RGD:735229 611981 HGNC:14515 "ENST00000372133.8|NM_018135.4" HGNC:29740 MRPS18AP1 mitochondrial ribosomal protein S18A pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 2010-09-29 2012-10-16 359761 ENSG00000229759 OTTHUMG00000156829 NG_002877 12706105 PGOHUM00000263114 HGNC:29740 HGNC:14516 MRPS18B mitochondrial ribosomal protein S18B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "MRPS18-2|PTD017|C6orf14|HSPC183" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-05-30 2023-01-20 28973 ENSG00000204568 OTTHUMG00000031268 uc063ynd.1 AF100761 NM_014046 CCDS4682 Q9Y676 11279123 MGI:1914223 RGD:1302998 611982 HGNC:14516 "ENST00000259873.5|NM_014046.4" HGNC:29741 MRPS18BP1 mitochondrial ribosomal protein S18B pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 2010-09-29 2014-11-19 359762 ENSG00000226013 OTTHUMG00000037077 NG_002878 12706105 HGNC:29741 @@ -21016,7 +21018,7 @@ HGNC:29753 MRPS21P6 mitochondrial ribosomal protein S21 pseudogene 6 pseudogene HGNC:29754 MRPS21P7 mitochondrial ribosomal protein S21 pseudogene 7 pseudogene pseudogene Approved 16q12.1 16q12.1 2006-01-17 2015-08-26 359771 ENSG00000260024 OTTHUMG00000173442 NG_002887 12706105 PGOHUM00000293856 HGNC:29754 HGNC:29755 MRPS21P8 mitochondrial ribosomal protein S21 pseudogene 8 pseudogene pseudogene Approved 16q12.1 16q12.1 2004-10-11 2015-08-26 350297 ENSG00000259978 OTTHUMG00000173444 AY135320 NG_002840 12706105 PGOHUM00000293857 HGNC:29755 HGNC:29756 MRPS21P9 mitochondrial ribosomal protein S21 pseudogene 9 pseudogene pseudogene Approved 17q21.33 17q21.33 2006-01-17 2012-11-14 359772 ENSG00000262759 OTTHUMG00000177425 NG_002888 12706105 PGOHUM00000237105 HGNC:29756 -HGNC:14508 MRPS22 mitochondrial ribosomal protein S22 protein-coding gene gene with protein product Approved 3q23 03q23 "MRP-S22|GK002|C3orf5|GIBT" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2023-03-15 56945 ENSG00000175110 OTTHUMG00000159910 uc003etb.4 AF226045 NM_020191 "CCDS3107|CCDS87143" P82650 11175783 MGI:1928137 RGD:1585674 605810 140069 HGNC:14508 "ENST00000680020.1|NM_020191.4" HGNC:14508 +HGNC:14508 MRPS22 mitochondrial ribosomal protein S22 protein-coding gene gene with protein product Approved 3q23 03q23 "MRP-S22|GK002|C3orf5|GIBT" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2023-03-15 56945 ENSG00000175110 OTTHUMG00000159910 uc003etb.4 AF226045 NM_020191 "CCDS87143|CCDS3107" P82650 11175783 MGI:1928137 RGD:1585674 605810 140069 HGNC:14508 "ENST00000680020.1|NM_020191.4" HGNC:14508 HGNC:29757 MRPS22P1 mitochondrial ribosomal protein S22 pseudogene 1 pseudogene pseudogene Approved Xq21.31 Xq21.31 2010-09-29 2020-05-21 359773 ENSG00000271056 NG_002889 12706105 PGOHUM00000241431 HGNC:29757 HGNC:14509 MRPS23 mitochondrial ribosomal protein S23 protein-coding gene gene with protein product Approved 17q22 17q22 "MRP-S23|CGI-138|HSPC329" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2023-01-20 51649 ENSG00000181610 OTTHUMG00000178774 uc002ivc.4 AB061206 NM_016070 CCDS11598 Q9Y3D9 11279123 MGI:1928138 RGD:1306963 611985 HGNC:14509 "ENST00000313608.13|NM_016070.4" HGNC:29758 MRPS23P1 mitochondrial ribosomal protein S23 pseudogene 1 pseudogene pseudogene Approved 7p13 07p13 2004-09-22 2004-09-22 352290 AY135323 NG_002844 12706105 HGNC:29758 @@ -21052,37 +21054,37 @@ HGNC:29773 MRPS36P3 mitochondrial ribosomal protein S36 pseudogene 3 pseudogene HGNC:29774 MRPS36P4 mitochondrial ribosomal protein S36 pseudogene 4 pseudogene pseudogene Approved 11q23.1 11q23.1 2005-06-28 2016-10-05 347702 ENSG00000255231 OTTHUMG00000167157 AY135343 NG_002703 12706105 PGOHUM00000242893 HGNC:29774 HGNC:29775 MRPS36P5 mitochondrial ribosomal protein S36 pseudogene 5 pseudogene pseudogene Approved 12q12 12q12 2005-03-04 2011-07-28 347703 ENSG00000257927 OTTHUMG00000169351 AY135344 NG_002705 12706105 PGOHUM00000239425 HGNC:29775 HGNC:29776 MRPS36P6 mitochondrial ribosomal protein S36 pseudogene 6 pseudogene pseudogene Approved 20p12.1 20p12.1 2005-06-28 2011-07-28 347707 AY135345 NG_002713 12706105 PGOHUM00000247447 HGNC:29776 -HGNC:7234 MRRF mitochondrial ribosome recycling factor protein-coding gene gene with protein product Approved 9q33.2 09q33.2 RRF 1999-07-21 2023-03-15 92399 ENSG00000148187 OTTHUMG00000020600 uc010mwa.4 AA115320 NM_138777 "CCDS55336|CCDS48013|CCDS6840|CCDS87684" Q96E11 "9838146|10773675" MGI:1915121 RGD:1305897 604602 HGNC:7234 "ENST00000344641.8|NM_138777.5" +HGNC:7234 MRRF mitochondrial ribosome recycling factor protein-coding gene gene with protein product Approved 9q33.2 09q33.2 RRF 1999-07-21 2023-03-15 92399 ENSG00000148187 OTTHUMG00000020600 uc010mwa.4 AA115320 NM_138777 "CCDS87684|CCDS6840|CCDS48013|CCDS55336" Q96E11 "9838146|10773675" MGI:1915121 RGD:1305897 604602 HGNC:7234 "ENST00000344641.8|NM_138777.5" HGNC:35238 MRRFP1 mitochondrial ribosome recycling factor pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 MRRFP mitochondrial ribosome recycling factor pseudogene 2008-10-27 2010-02-26 2010-02-26 2010-02-26 286423 ENSG00000224236 OTTHUMG00000022326 NG_005178 HGNC:35238 -HGNC:13785 MRS2 magnesium transporter MRS2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 MRS2L "MRS2-like, magnesium homeostasis factor (S. cerevisiae)|MRS2 magnesium homeostasis factor homolog (S. cerevisiae)" 2000-11-14 2008-01-18 2018-08-15 2023-01-20 57380 ENSG00000124532 OTTHUMG00000014355 uc003neb.5 AF288288 NM_001286264 "CCDS69056|CCDS4552|CCDS75408|CCDS69055" Q9HD23 MGI:2685748 RGD:708529 619307 HGNC:13785 "ENST00000378386.8|NM_020662.4" +HGNC:13785 MRS2 magnesium transporter MRS2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 MRS2L "MRS2-like, magnesium homeostasis factor (S. cerevisiae)|MRS2 magnesium homeostasis factor homolog (S. cerevisiae)" 2000-11-14 2008-01-18 2018-08-15 2023-01-20 57380 ENSG00000124532 OTTHUMG00000014355 uc003neb.5 AF288288 NM_001286264 "CCDS69055|CCDS69056|CCDS4552|CCDS75408" Q9HD23 MGI:2685748 RGD:708529 619307 HGNC:13785 "ENST00000378386.8|NM_020662.4" HGNC:20590 MRS2P1 MRS2 pseudogene 1 pseudogene pseudogene Approved 8q24.13 08q24.13 MRS2LP1 "MRS2-like, magnesium homeostasis factor (S. cerevisiae) pseudogene 1|MRS2 magnesium homeostasis factor homolog (S. cerevisiae) pseudogene 1" 2005-10-06 2008-01-18 2013-06-10 2020-04-20 100130448 ENSG00000250428 NG_022435 HGNC:20590 HGNC:33942 MRS2P2 MRS2 pseudogene 2 pseudogene pseudogene Approved 12q21.1 12q21.1 MRS2 magnesium homeostasis factor homolog (S. cerevisiae) pseudogene 2 2008-01-18 2013-06-10 2020-04-06 729633 ENSG00000257802 OTTHUMG00000169641 NR_024072 PGOHUM00000291402 HGNC:33942 -HGNC:14334 MRTFA myocardin related transcription factor A protein-coding gene gene with protein product Approved 22q13.1-q13.2 22q13.1-q13.2 "KIAA1438|MAL|MRTF-A|BSAC|MKL" "megakaryocytic acute leukemia|basic, SAP and coiled-coil domain" MKL1 megakaryoblastic leukemia (translocation) 1 Myocardin family 1407 2001-05-10 2018-06-11 2018-06-11 2023-01-20 57591 ENSG00000196588 OTTHUMG00000151146 uc032qph.2 AB037859 NM_020831 "CCDS93172|CCDS74865|CCDS82720|CCDS74866|CCDS14003" Q969V6 "11431691|12019265|14970199" MGI:2384495 RGD:1304873 LRG_1427|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1427.xml MRTFA 606078 409876 HGNC:14334 "ENST00000355630.10|NM_020831.6" +HGNC:14334 MRTFA myocardin related transcription factor A protein-coding gene gene with protein product Approved 22q13.1-q13.2 22q13.1-q13.2 "KIAA1438|MAL|MRTF-A|BSAC|MKL" "megakaryocytic acute leukemia|basic, SAP and coiled-coil domain" MKL1 megakaryoblastic leukemia (translocation) 1 Myocardin family 1407 2001-05-10 2018-06-11 2018-06-11 2023-01-20 57591 ENSG00000196588 OTTHUMG00000151146 uc032qph.2 AB037859 NM_020831 "CCDS82720|CCDS74866|CCDS74865|CCDS93172|CCDS14003" Q969V6 "11431691|12019265|14970199" MGI:2384495 RGD:1304873 LRG_1427|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1427.xml MRTFA 606078 409876 HGNC:14334 "ENST00000355630.10|NM_020831.6" HGNC:40681 MRTFA-AS1 MRTFA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 Antisense RNAs 1987 2018-06-11 2018-06-11 101927257 ENSG00000232564 OTTHUMG00000151147 NR_109965 HGNC:40681 -HGNC:29819 MRTFB myocardin related transcription factor B protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "MRTF-B|FLJ31823" MKL2 "MKL/myocardin like 2|MKL and myocardin family member 2|MKL1/myocardin like 2" Myocardin family 1407 2004-08-25 2018-06-11 2018-06-11 2023-01-20 57496 ENSG00000186260 OTTHUMG00000177379 uc010uza.3 AB033069 NM_014048 "CCDS32391|CCDS92112|CCDS76823" Q9ULH7 10574462 MGI:3050795 RGD:1560833 609463 HGNC:29819 "ENST00000571589.6|NM_001308142.2" +HGNC:29819 MRTFB myocardin related transcription factor B protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "MRTF-B|FLJ31823" MKL2 "MKL/myocardin like 2|MKL and myocardin family member 2|MKL1/myocardin like 2" Myocardin family 1407 2004-08-25 2018-06-11 2018-06-11 2023-01-20 57496 ENSG00000186260 OTTHUMG00000177379 uc010uza.3 AB033069 NM_014048 "CCDS76823|CCDS32391|CCDS92112" Q9ULH7 10574462 MGI:3050795 RGD:1560833 609463 HGNC:29819 "ENST00000571589.6|NM_001308142.2" HGNC:18477 MRTO4 MRT4 homolog, ribosome maturation factor protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "dJ657E11.4|MRT4" C1orf33 "chromosome 1 open reading frame 33|MRT4, mRNA turnover 4, homolog (S. cerevisiae)|mRNA turnover 4 homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2002-05-23 2007-01-05 2015-07-02 2023-01-20 51154 ENSG00000053372 OTTHUMG00000002496 uc001bbs.4 AK027569 NM_016183 CCDS191 Q9UKD2 "20083226|26494001" MGI:1917152 RGD:1311709 HGNC:18477 "ENST00000330263.5|NM_016183.4" HGNC:7315 MS4A1 membrane spanning 4-domains A1 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "B1|Bp35|FMC7" CD20 membrane-spanning 4-domains, subfamily A, member 1 "CD molecules|Membrane spanning 4-domains" "471|958" 1989-05-23 2016-01-20 2023-01-20 931 ENSG00000156738 OTTHUMG00000167614 uc001npq.3 M27394 NM_021950 CCDS31570 P11836 2448768 MGI:88321 RGD:1311999 LRG_140|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_140.xml 112210 235193 objectId:2628 CD20 HGNC:7315 "ENST00000345732.9|NM_152866.3" HGNC:7315 -HGNC:7316 MS4A2 membrane spanning 4-domains A2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 Fc fragment of IgE, high affinity I, receptor for; beta polypeptide "FCER1B|IGER|APY" "IgE responsiveness (atopic)|membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)|membrane-spanning 4-domains, subfamily A, member 2" Membrane spanning 4-domains 958 1992-07-09 2016-01-20 2023-03-15 2206 ENSG00000149534 OTTHUMG00000167239 uc001nop.4 M89796 NM_000139 "CCDS7980|CCDS73292" Q01362 1386024 MGI:95495 RGD:2598 147138 objectId:2936 HGNC:7316 "ENST00000278888.8|NM_000139.5" HGNC:7316 -HGNC:7317 MS4A3 membrane spanning 4-domains A3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 HTM4 CD20L membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) Membrane spanning 4-domains 958 1994-12-14 2016-01-20 2023-01-20 932 ENSG00000149516 OTTHUMG00000167380 uc001nom.4 L35848 NM_001031666 "CCDS41651|CCDS31567|CCDS31568" Q96HJ5 7524084 MGI:2158468 RGD:1310598 606498 HGNC:7317 "ENST00000278865.8|NM_006138.5" -HGNC:13371 MS4A4A membrane spanning 4-domains A4A protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "CD20L1|MS4A7" MS4A4 "membrane-spanning 4-domains, subfamily A, member 4|membrane-spanning 4-domains, subfamily A, member 4A" Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2023-03-15 51338 ENSG00000110079 OTTHUMG00000154949 uc001noz.4 AB013102 NM_001243266 "CCDS58135|CCDS7982" Q96JQ5 "11245982|11401424" MGI:3643932 RGD:1307006 606547 HGNC:13371 "ENST00000337908.5|NM_148975.3" -HGNC:14284 MS4A4E membrane spanning 4-domains A4E protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 4E "Membrane spanning 4-domains|MicroRNA protein coding host genes" "958|1691" 2002-03-26 2016-01-20 2023-01-20 643680 ENSG00000214787 OTTHUMG00000167354 uc058btl.1 AF354936 NM_001351235 CCDS91480 Q96PG1 11486273 MGI:3643932 608401 HGNC:14284 "ENST00000651255.1|NM_001393391.1" +HGNC:7316 MS4A2 membrane spanning 4-domains A2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 Fc fragment of IgE, high affinity I, receptor for; beta polypeptide "FCER1B|IGER|APY" "IgE responsiveness (atopic)|membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)|membrane-spanning 4-domains, subfamily A, member 2" Membrane spanning 4-domains 958 1992-07-09 2016-01-20 2023-03-15 2206 ENSG00000149534 OTTHUMG00000167239 uc001nop.4 M89796 NM_000139 "CCDS73292|CCDS7980" Q01362 1386024 MGI:95495 RGD:2598 147138 objectId:2936 HGNC:7316 "ENST00000278888.8|NM_000139.5" HGNC:7316 +HGNC:7317 MS4A3 membrane spanning 4-domains A3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 HTM4 CD20L membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) Membrane spanning 4-domains 958 1994-12-14 2016-01-20 2023-01-20 932 ENSG00000149516 OTTHUMG00000167380 uc001nom.4 L35848 NM_001031666 "CCDS41651|CCDS31568|CCDS31567" Q96HJ5 7524084 MGI:2158468 RGD:1310598 606498 HGNC:7317 "ENST00000278865.8|NM_006138.5" +HGNC:13371 MS4A4A membrane spanning 4-domains A4A protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "CD20L1|MS4A7" MS4A4 "membrane-spanning 4-domains, subfamily A, member 4|membrane-spanning 4-domains, subfamily A, member 4A" Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2023-03-15 51338 ENSG00000110079 OTTHUMG00000154949 uc001noz.4 AB013102 NM_001243266 "CCDS7982|CCDS58135" Q96JQ5 "11245982|11401424" MGI:3643932 RGD:1307006 606547 HGNC:13371 "ENST00000337908.5|NM_148975.3" +HGNC:14284 MS4A4E membrane spanning 4-domains A4E protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 4E "Membrane spanning 4-domains|MicroRNA protein coding host genes" "958|1691" 2002-03-26 2016-01-20 2023-01-20 643680 ENSG00000214787 OTTHUMG00000167354 uc058btl.1 AF354936 NM_001351235 CCDS91480 Q96PG1 11486273 MGI:3643932 RGD:1583863 608401 HGNC:14284 "ENST00000651255.1|NM_001393391.1" HGNC:13374 MS4A5 membrane spanning 4-domains A5 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 CD20L2 membrane-spanning 4-domains, subfamily A, member 5 Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2023-01-20 64232 ENSG00000166930 OTTHUMG00000167613 uc001npo.3 AB013103 NM_023945 CCDS7987 Q9H3V2 "11245982|11401424" MGI:2670985 RGD:1594968 606499 HGNC:13374 "ENST00000300190.7|NM_023945.3" -HGNC:13375 MS4A6A membrane spanning 4-domains A6A protein-coding gene gene with protein product Approved 11q12.2 11q12.2 CD20L3 MS4A6 membrane-spanning 4-domains, subfamily A, member 6A Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2023-01-20 64231 ENSG00000110077 OTTHUMG00000167241 uc009ymv.4 AB013104 NM_001247999 "CCDS7981|CCDS44615|CCDS44616|CCDS81568|CCDS58134" Q9H2W1 "11245982|11401424" "MGI:1916024|MGI:1917024|MGI:2385644" RGD:1305800 606548 HGNC:13375 "ENST00000528851.6|NM_022349.4" +HGNC:13375 MS4A6A membrane spanning 4-domains A6A protein-coding gene gene with protein product Approved 11q12.2 11q12.2 CD20L3 MS4A6 membrane-spanning 4-domains, subfamily A, member 6A Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2023-01-20 64231 ENSG00000110077 OTTHUMG00000167241 uc009ymv.4 AB013104 NM_001247999 "CCDS58134|CCDS7981|CCDS44616|CCDS44615|CCDS81568" Q9H2W1 "11245982|11401424" "MGI:1916024|MGI:1917024|MGI:2385644" RGD:1305800 606548 HGNC:13375 "ENST00000528851.6|NM_022349.4" HGNC:14285 MS4A6E membrane spanning 4-domains A6E protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 6E Membrane spanning 4-domains 958 2002-03-26 2016-01-20 2023-01-20 245802 ENSG00000166926 OTTHUMG00000167355 uc001npd.4 AF354931 NM_139249 CCDS7984 Q96DS6 11486273 "MGI:1916024|MGI:1917024|MGI:2385644" 608402 HGNC:14285 "ENST00000684409.1|NM_139249.4" -HGNC:13378 MS4A7 membrane spanning 4-domains A7 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "CD20L4|CFFM4|MS4A8" membrane-spanning 4-domains, subfamily A, member 7 Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2023-01-20 58475 ENSG00000166927 OTTHUMG00000167356 uc001npf.4 AB026043 NM_021201 "CCDS7985|CCDS7986" Q9GZW8 "11245982|11401424" MGI:1918846 RGD:1305549 606502 HGNC:13378 "ENST00000300184.8|NM_021201.5" +HGNC:13378 MS4A7 membrane spanning 4-domains A7 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "CD20L4|CFFM4|MS4A8" membrane-spanning 4-domains, subfamily A, member 7 Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2023-01-20 58475 ENSG00000166927 OTTHUMG00000167356 uc001npf.4 AB026043 NM_021201 "CCDS7986|CCDS7985" Q9GZW8 "11245982|11401424" MGI:1918846 RGD:1305549 606502 HGNC:13378 "ENST00000300184.8|NM_021201.5" HGNC:13380 MS4A8 membrane spanning 4-domains A8 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "MS4A4|CD20L5" MS4A8B "membrane-spanning 4-domains, subfamily A, member 8B|membrane-spanning 4-domains, subfamily A, member 8" Membrane spanning 4-domains 958 2001-04-25 2013-03-01 2016-01-20 2023-01-20 83661 ENSG00000166959 OTTHUMG00000167686 uc001npv.4 AF237905 NM_031457 CCDS7990 Q9BY19 "11245982|11401424" MGI:1927657 RGD:1309035 606549 HGNC:13380 "ENST00000300226.7|NM_031457.2" HGNC:13368 MS4A10 membrane spanning 4-domains A10 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "CD20L7|MS4A9" membrane-spanning 4-domains, subfamily A, member 10 Membrane spanning 4-domains 958 2005-01-26 2016-01-20 2023-01-20 341116 ENSG00000172689 OTTHUMG00000167689 uc001npz.1 AK122633 NM_206893 CCDS7992 Q96PG2 "11486273|11401424" MGI:1917076 RGD:1307478 608403 HGNC:13368 "ENST00000308287.2|NM_206893.4" HGNC:13370 MS4A12 membrane spanning 4-domains A12 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "Ms4a10|FLJ20217" membrane-spanning 4-domains, subfamily A, member 12 Membrane spanning 4-domains 958 2002-11-26 2016-01-20 2023-01-20 54860 ENSG00000071203 OTTHUMG00000165364 uc001npr.4 AK000224 NM_001164470 "CCDS53638|CCDS7988" Q9NXJ0 "11401424|11486273" MGI:2685812 RGD:1307162 606550 HGNC:13370 "ENST00000016913.8|NM_017716.3" -HGNC:16674 MS4A13 membrane spanning 4-domains A13 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 13 Membrane spanning 4-domains 958 2005-12-05 2016-01-20 2023-01-20 503497 ENSG00000204979 OTTHUMG00000167615 uc001nps.4 AY324188 NM_001012417 "CCDS41653|CCDS31571|CCDS60801" Q5J8X5 MGI:1920716 RGD:1564175 HGNC:16674 "ENST00000378186.7|NM_001012417.3" -HGNC:30706 MS4A14 membrane spanning 4-domains A14 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "NYD-SP21|FLJ32856|DKFZp434H092" MS4A16 "membrane-spanning 4-domains, subfamily A, member 16|membrane-spanning 4-domains, subfamily A, member 14" Membrane spanning 4-domains 958 2004-06-07 2008-04-10 2016-01-20 2023-01-20 84689 ENSG00000166928 OTTHUMG00000167357 uc001npj.4 AY584610 NM_001079692 "CCDS58136|CCDS31569|CCDS73295|CCDS41652" Q96JA4 MGI:2686122 RGD:727900 HGNC:30706 "ENST00000300187.11|NM_032597.5" -HGNC:28573 MS4A15 membrane spanning 4-domains A15 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 15 Membrane spanning 4-domains 958 2004-06-07 2016-01-20 2023-01-20 219995 ENSG00000166961 OTTHUMG00000167688 uc001npx.3 AY584608 NM_001098835 "CCDS7991|CCDS44617|CCDS60802" Q8N5U1 MGI:3617853 RGD:1561158 HGNC:28573 "ENST00000405633.4|NM_001098835.2" +HGNC:16674 MS4A13 membrane spanning 4-domains A13 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 13 Membrane spanning 4-domains 958 2005-12-05 2016-01-20 2023-01-20 503497 ENSG00000204979 OTTHUMG00000167615 uc001nps.4 AY324188 NM_001012417 "CCDS41653|CCDS60801|CCDS31571" Q5J8X5 MGI:1920716 RGD:1564175 HGNC:16674 "ENST00000378186.7|NM_001012417.3" +HGNC:30706 MS4A14 membrane spanning 4-domains A14 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "NYD-SP21|FLJ32856|DKFZp434H092" MS4A16 "membrane-spanning 4-domains, subfamily A, member 16|membrane-spanning 4-domains, subfamily A, member 14" Membrane spanning 4-domains 958 2004-06-07 2008-04-10 2016-01-20 2023-01-20 84689 ENSG00000166928 OTTHUMG00000167357 uc001npj.4 AY584610 NM_001079692 "CCDS73295|CCDS31569|CCDS41652|CCDS58136" Q96JA4 MGI:2686122 RGD:727900 HGNC:30706 "ENST00000300187.11|NM_032597.5" +HGNC:28573 MS4A15 membrane spanning 4-domains A15 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 15 Membrane spanning 4-domains 958 2004-06-07 2016-01-20 2023-01-20 219995 ENSG00000166961 OTTHUMG00000167688 uc001npx.3 AY584608 NM_001098835 "CCDS44617|CCDS7991|CCDS60802" Q8N5U1 MGI:3617853 RGD:1561158 HGNC:28573 "ENST00000405633.4|NM_001098835.2" HGNC:37636 MS4A18 membrane spanning 4-domains A18 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 18 Membrane spanning 4-domains 958 2009-12-01 2016-01-20 2018-11-16 728588 ENSG00000214782 OTTHUMG00000167687 uc001npw.2 NM_001354471 Q3C1V0 MGI:1923252 RGD:2323808 HGNC:37636 HGNC:53877 MS4A19P membrane spanning 4-domains A19, pseudogene pseudogene pseudogene Approved 11q12.2 11q12.2 2020-01-07 2020-01-07 116435280 ENSG00000283601 OTTHUMG00000191779 NG_067177 MGI:1916666 RGD:6487805 HGNC:33741 MSANTD1 Myb/SANT DNA binding domain containing 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 LOC345222 C4orf44 "chromosome 4 open reading frame 44|Myb/SANT-like DNA-binding domain containing 1" Myb/SANT domain containing 532 2008-07-14 2012-03-02 2016-03-01 2023-03-15 345222 ENSG00000188981 OTTHUMG00000159977 uc003ggs.4 NM_001042690 "CCDS47003|CCDS82907" Q6ZTZ1 MGI:2684990 RGD:1565796 HGNC:33741 "ENST00000438480.7|NM_001042690.2" -HGNC:26266 MSANTD2 Myb/SANT DNA binding domain containing 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ23342 C11orf61 "chromosome 11 open reading frame 61|Myb/SANT-like DNA-binding domain containing 2" Myb/SANT domain containing 532 2006-03-09 2012-03-02 2016-03-01 2023-01-20 79684 ENSG00000120458 OTTHUMG00000165931 uc001qaz.2 AK026995 NM_024631 "CCDS73408|CCDS81641|CCDS76491|CCDS8454" Q6P1R3 MGI:2384579 RGD:1562840 HGNC:26266 "ENST00000374979.8|NM_001308027.2" +HGNC:26266 MSANTD2 Myb/SANT DNA binding domain containing 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ23342 C11orf61 "chromosome 11 open reading frame 61|Myb/SANT-like DNA-binding domain containing 2" Myb/SANT domain containing 532 2006-03-09 2012-03-02 2016-03-01 2023-01-20 79684 ENSG00000120458 OTTHUMG00000165931 uc001qaz.2 AK026995 NM_024631 "CCDS73408|CCDS76491|CCDS8454|CCDS81641" Q6P1R3 MGI:2384579 RGD:1562840 HGNC:26266 "ENST00000374979.8|NM_001308027.2" HGNC:55601 MSANTD2-AS1 MSANTD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 Antisense RNAs 1987 2021-06-07 2021-06-07 100507283 ENSG00000245498 NR_103862 HGNC:39637 MSANTD2P1 Myb/SANT DNA binding domain containing 2 pseudogene 1 pseudogene pseudogene Approved 21q21.2 21q21.2 Myb/SANT-like DNA-binding domain containing 2 pseudogene 1 2012-03-02 2016-03-01 2016-03-01 100130310 ENSG00000231058 OTTHUMG00000078255 NG_021997 PGOHUM00000258121 HGNC:39637 -HGNC:23370 MSANTD3 Myb/SANT DNA binding domain containing 3 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 MGC17337 C9orf30 "chromosome 9 open reading frame 30|Myb/SANT-like DNA-binding domain containing 3" Myb/SANT domain containing 532 2005-11-22 2012-03-13 2016-03-01 2023-01-20 91283 ENSG00000066697 OTTHUMG00000020365 uc022bla.2 BC008993 NM_080655 "CCDS6749|CCDS56579" Q96H12 MGI:1913915 RGD:1308165 HGNC:23370 "ENST00000395067.7|NM_080655.3" +HGNC:23370 MSANTD3 Myb/SANT DNA binding domain containing 3 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 MGC17337 C9orf30 "chromosome 9 open reading frame 30|Myb/SANT-like DNA-binding domain containing 3" Myb/SANT domain containing 532 2005-11-22 2012-03-13 2016-03-01 2023-01-20 91283 ENSG00000066697 OTTHUMG00000020365 uc022bla.2 BC008993 NM_080655 "CCDS56579|CCDS6749" Q96H12 MGI:1913915 RGD:1308165 HGNC:23370 "ENST00000395067.7|NM_080655.3" HGNC:38838 MSANTD3-TMEFF1 MSANTD3-TMEFF1 readthrough other readthrough Approved 9q31.1 09q31.1 C9orf30-TMEFF1 C9orf30-TMEFF1 readthrough 2011-02-21 2012-03-13 2012-03-13 2014-11-19 100526694 ENSG00000251349 OTTHUMG00000161540 uc064uvb.1 NM_001198812.1 MGI:1926810 HGNC:38838 HGNC:55780 MSANTD3P1 MSANTD3 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 2021-07-23 2021-07-23 100420848 ENSG00000263368 NG_026162 PGOHUM00000294025 HGNC:29383 MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils protein-coding gene gene with protein product Approved 11q22.3 11q22.3 KIAA1826 "KIAA1826|Myb/SANT-like DNA-binding domain containing 4 with coiled-coils" Myb/SANT domain containing 532 2006-02-03 2012-03-13 2016-03-01 2023-01-20 84437 ENSG00000170903 OTTHUMG00000166240 uc001piz.3 AB058729 NM_032424 CCDS31663 Q8NCY6 MGI:1925350 RGD:1565380 HGNC:29383 "ENST00000301919.9|NM_032424.3" @@ -21093,30 +21095,30 @@ HGNC:7319 MSBP2 minisatellite binding protein 2 other unknown Approved reserved HGNC:7321 MSC musculin protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "ABF-1|bHLHa22" activated B-cell factor-1 musculin (activated B-cell factor-1) Basic helix-loop-helix proteins 420 1998-10-30 2010-04-28 2023-01-20 9242 ENSG00000178860 OTTHUMG00000164489 uc003xyx.2 NM_005098 CCDS43746 O60682 "9584154|10198176" MGI:1333884 RGD:1305496 603628 HGNC:7321 "ENST00000325509.5|NM_005098.4" HGNC:48724 MSC-AS1 MSC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q13.3-q21.11 08q13.3-q21.11 MAT1 MSC-antisense-transcript 1 Antisense RNAs 1987 2015-03-05 2023-01-09 100132891 ENSG00000235531 OTTHUMG00000164497 NR_033652 "32489020|36516779" MSC-AS1 HGNC:48724 HGNC:14907 MSGN1 mesogenin 1 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 pMesogenin1 paraxial mesogenin 2005-11-14 2023-01-20 343930 ENSG00000151379 OTTHUMG00000159089 uc010yjt.3 NM_001105569 CCDS42657 A6NI15 10837126 MGI:1860483 RGD:1587516 612209 HGNC:14907 "ENST00000281047.4|NM_001105569.3" -HGNC:7325 MSH2 mutS homolog 2 protein-coding gene gene with protein product Approved 2p21-p16.3 02p21-p16.3 "HNPCC|HNPCC1|MSH-2" DNA mismatch repair protein Msh2 COCA1 "mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)|mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)" MutS homologs 1026 1993-07-28 2013-09-12 2023-01-20 4436 ENSG00000095002 OTTHUMG00000128861 uc002rvy.3 U03911 NM_000251 "CCDS92750|CCDS1834|CCDS58709" P43246 "8484120|9843200" MGI:101816 RGD:620786 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MSH2|MSH2 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=MSH2|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/MSH2|LRG_218|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_218.xml" MSH2 609309 123487 HGNC:7325 "ENST00000233146.7|NM_000251.3" HGNC:7325 +HGNC:7325 MSH2 mutS homolog 2 protein-coding gene gene with protein product Approved 2p21-p16.3 02p21-p16.3 "HNPCC|HNPCC1|MSH-2" DNA mismatch repair protein Msh2 COCA1 "mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)|mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)" MutS homologs 1026 1993-07-28 2013-09-12 2023-01-20 4436 ENSG00000095002 OTTHUMG00000128861 uc002rvy.3 U03911 NM_000251 "CCDS1834|CCDS58709|CCDS92750" P43246 "8484120|9843200" MGI:101816 RGD:620786 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MSH2|MSH2 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=MSH2|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/MSH2|LRG_218|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_218.xml" MSH2 609309 123487 HGNC:7325 "ENST00000233146.7|NM_000251.3" HGNC:7325 HGNC:40319 MSH2-OT1 MSH2 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 2p16.3 02p16.3 Overlapping transcripts 1988 2019-08-15 2019-08-15 644093 ENSG00000235760 OTTHUMG00000151664 NR_120602 HGNC:40319 HGNC:7326 MSH3 mutS homolog 3 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "DUP|MRP1" "Divergent upstream protein|Mismatch repair protein 1" "mutS (E. coli) homolog 3|mutS homolog 3 (E. coli)" MutS homologs 1026 1995-09-28 2013-09-12 2023-01-20 4437 ENSG00000113318 OTTHUMG00000162540 uc003kgz.5 U61981 NM_002439 CCDS34195 P20585 MGI:109519 RGD:1563954 600887 HGNC:7326 "ENST00000265081.7|NM_002439.5" HGNC:7326 HGNC:7327 MSH4 mutS homolog 4 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "mutS (E. coli) homolog 4|mutS homolog 4 (E. coli)" MutS homologs 1026 1997-08-22 2013-09-12 2023-01-20 4438 ENSG00000057468 OTTHUMG00000009788 uc001dhd.3 U89293 NM_002440 CCDS670 O15457 9299235 MGI:1860077 RGD:1309190 602105 HGNC:7327 "ENST00000263187.4|NM_002440.4" -HGNC:7328 MSH5 mutS homolog 5 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 G7 "mutS (E. coli) homolog 5|mutS homolog 5 (E. coli)" MutS homologs 1026 1998-03-10 2013-09-12 2023-01-20 4439 ENSG00000204410 OTTHUMG00000167551 uc003nww.3 AF070071 NM_002441 "CCDS34409|CCDS4720|CCDS34410" O43196 "9740671|9787078|17977839" MGI:1329021 RGD:1303008 603382 470690 HGNC:7328 "ENST00000375750.9|NM_172166.4" +HGNC:7328 MSH5 mutS homolog 5 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 G7 "mutS (E. coli) homolog 5|mutS homolog 5 (E. coli)" MutS homologs 1026 1998-03-10 2013-09-12 2023-01-20 4439 ENSG00000204410 OTTHUMG00000167551 uc003nww.3 AF070071 NM_002441 "CCDS34409|CCDS34410|CCDS4720" O43196 "9740671|9787078|17977839" MGI:1329021 RGD:1303008 603382 470690 HGNC:7328 "ENST00000375750.9|NM_172166.4" HGNC:41994 MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) other readthrough Approved 6p21.33 06p21.33 MSH5-C6orf26 MSH5-C6orf26 readthrough (non-protein coding) 2011-05-31 2011-12-13 2013-05-09 2014-11-19 100532732 ENSG00000255152 OTTHUMG00000031139 uc063uin.1 NR_037846.1 RGD:9234328 HGNC:41994 HGNC:7329 MSH6 mutS homolog 6 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 MSH-6 GTBP "mutS (E. coli) homolog 6|mutS homolog 6 (E. coli)" "MutS homologs|PWWP domain containing" "1026|1147" 1995-08-29 2013-09-12 2023-03-15 2956 ENSG00000116062 OTTHUMG00000129129 uc002rwd.5 U54777 NM_000179 "CCDS1836|CCDS62906" P52701 7604266 MGI:1343961 RGD:2322311 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MSH6|MSH6 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=MSH6|LRG_219|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_219.xml" MSH6 600678 123492 HGNC:7329 "ENST00000234420.11|NM_000179.3" HGNC:7329 HGNC:7330 MSI1 musashi RNA binding protein 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "Musashi (Drosophila) homolog 1|musashi homolog 1 (Drosophila)" RNA binding motif containing 725 1998-05-07 2015-11-05 2023-01-20 4440 ENSG00000135097 OTTHUMG00000169344 uc001tye.2 AB012851 NM_002442 CCDS9196 O43347 9790759 MGI:107376 RGD:628778 603328 HGNC:7330 "ENST00000257552.7|NM_002442.4" -HGNC:18585 MSI2 musashi RNA binding protein 2 protein-coding gene gene with protein product Approved 17q22 17q22 musashi homolog 2 (Drosophila) RNA binding motif containing 725 2002-04-29 2015-11-05 2023-01-20 124540 ENSG00000153944 OTTHUMG00000178398 uc002iuz.2 BC001526 NM_001322250 "CCDS11597|CCDS11596|CCDS82168" Q96DH6 11588182 MGI:1923876 RGD:1560397 MSI2 607897 HGNC:18585 "ENST00000284073.7|NM_138962.4" -HGNC:27905 MSL1 MSL complex subunit 1 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "hMSL1|MSL-1|DKFZp686P24239" male-specific lethal 1 homolog (Drosophila) MSL histone acetyltransferase complex 1481 2008-10-29 2018-11-09 2023-01-20 339287 ENSG00000188895 OTTHUMG00000179629 uc002hua.6 NM_001012241 "CCDS92297|CCDS45670|CCDS92299|CCDS92298" Q68DK7 "16227571|16543150" MGI:1921276 RGD:1564778 614801 HGNC:27905 "ENST00000398532.9|NM_001365919.1" -HGNC:25544 MSL2 MSL complex subunit 2 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "FLJ10546|KIAA1585|msl-2" male-specific lethal-2 homolog (Drosophila) "RNF184|MSL2L1" "ring finger protein 184|male-specific lethal 2-like 1 (Drosophila)|male-specific lethal 2 homolog (Drosophila)" "Ring finger proteins|MSL histone acetyltransferase complex" "58|1481" 2005-01-26 2008-10-29 2017-05-25 2023-01-20 55167 ENSG00000174579 OTTHUMG00000159793 uc003eqx.2 AK001408 NM_018133 "CCDS46922|CCDS33861" Q9HCI7 "16227571|16543150" MGI:1925103 RGD:1310355 614802 HGNC:25544 "ENST00000309993.3|NM_018133.4" -HGNC:7370 MSL3 MSL complex subunit 3 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MSL3L1 "male-specific lethal-3 (Drosophila)-like 1|male-specific lethal 3-like 1 (Drosophila)|male-specific lethal 3 homolog (Drosophila)" MSL histone acetyltransferase complex 1481 1999-08-09 2008-10-29 2017-05-25 2023-03-15 10943 ENSG00000005302 OTTHUMG00000021132 uc004cuw.3 AF117065 NM_006800 "CCDS55369|CCDS14149|CCDS65213|CCDS14147|CCDS14148" Q8N5Y2 "10395802|10908644" MGI:1341851 RGD:1549763 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MSL3 300609 HGNC:7370 "ENST00000312196.10|NM_078629.4" HGNC:7370 +HGNC:18585 MSI2 musashi RNA binding protein 2 protein-coding gene gene with protein product Approved 17q22 17q22 musashi homolog 2 (Drosophila) RNA binding motif containing 725 2002-04-29 2015-11-05 2023-01-20 124540 ENSG00000153944 OTTHUMG00000178398 uc002iuz.2 BC001526 NM_001322250 "CCDS11596|CCDS11597|CCDS82168" Q96DH6 11588182 MGI:1923876 RGD:1560397 MSI2 607897 HGNC:18585 "ENST00000284073.7|NM_138962.4" +HGNC:27905 MSL1 MSL complex subunit 1 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "hMSL1|MSL-1|DKFZp686P24239" male-specific lethal 1 homolog (Drosophila) MSL histone acetyltransferase complex 1481 2008-10-29 2018-11-09 2023-01-20 339287 ENSG00000188895 OTTHUMG00000179629 uc002hua.6 NM_001012241 "CCDS45670|CCDS92299|CCDS92298|CCDS92297" Q68DK7 "16227571|16543150" MGI:1921276 RGD:1564778 614801 HGNC:27905 "ENST00000398532.9|NM_001365919.1" +HGNC:25544 MSL2 MSL complex subunit 2 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "FLJ10546|KIAA1585|msl-2" male-specific lethal-2 homolog (Drosophila) "RNF184|MSL2L1" "ring finger protein 184|male-specific lethal 2-like 1 (Drosophila)|male-specific lethal 2 homolog (Drosophila)" "Ring finger proteins|MSL histone acetyltransferase complex" "58|1481" 2005-01-26 2008-10-29 2017-05-25 2023-01-20 55167 ENSG00000174579 OTTHUMG00000159793 uc003eqx.2 AK001408 NM_018133 "CCDS33861|CCDS46922" Q9HCI7 "16227571|16543150" MGI:1925103 RGD:1310355 614802 HGNC:25544 "ENST00000309993.3|NM_018133.4" +HGNC:7370 MSL3 MSL complex subunit 3 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MSL3L1 "male-specific lethal-3 (Drosophila)-like 1|male-specific lethal 3-like 1 (Drosophila)|male-specific lethal 3 homolog (Drosophila)" MSL histone acetyltransferase complex 1481 1999-08-09 2008-10-29 2017-05-25 2023-03-15 10943 ENSG00000005302 OTTHUMG00000021132 uc004cuw.3 AF117065 NM_006800 "CCDS65213|CCDS14147|CCDS14149|CCDS55369|CCDS14148" Q8N5Y2 "10395802|10908644" MGI:1341851 RGD:1549763 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MSL3 300609 HGNC:7370 "ENST00000312196.10|NM_078629.4" HGNC:7370 HGNC:17837 MSL3P1 MSL complex subunit 3 pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 MSL3L2 "male-specific lethal 3-like 2 (Drosophila)|male-specific lethal 3 homolog (Drosophila) pseudogene 1" 2002-01-29 2011-03-21 2017-05-25 2017-05-25 151507 ENSG00000224287 OTTHUMG00000059126 BI831020 NR_024322 P0C860 MGI:1920640 RGD:1308699 PGOHUM00000240561 HGNC:17837 HGNC:56831 MSL3P2 MSL3 pseudogene 2 pseudogene pseudogene Approved 7q34 07q34 2023-05-12 2023-05-12 100499191 ENSG00000239254 NG_023384 PGOHUM00000302445 HGNC:56832 MSL3P3 MSL3 pseudogene 3 pseudogene pseudogene Approved 8q22.2 08q22.2 2023-05-12 2023-05-12 100499192 ENSG00000237704 NG_007098 PGOHUM00000303323 HGNC:7371 MSLN mesothelin protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CAK1|MPF" 1999-11-22 2023-01-20 10232 ENSG00000102854 OTTHUMG00000047992 uc002cjt.2 U40434 NM_001177355 "CCDS45370|CCDS32356" Q13421 "7665620|8552591" MGI:1888992 RGD:69333 601051 HGNC:7371 "ENST00000545450.7|NM_005823.6" HGNC:14170 MSLNL mesothelin like other unknown Approved 16p13.3 16p13.3 MPFL C16orf37 chromosome 16 open reading frame 37 2000-12-21 2008-07-04 2019-02-18 2023-03-15 401827 ENSG00000162006 OTTHUMG00000168780 uc059orz.1 NG_032123 Q96KJ4 22265842 MGI:3607710 RGD:1561732 HGNC:14170 -HGNC:7372 MSMB microseminoprotein beta protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "PSP-94|PSP57|PSP94|IGBF|MSP|MSPB|PN44|PRPS|PSP" beta-microseminoprotein microseminoprotein, beta- 1991-08-07 2016-06-29 2023-01-20 4477 ENSG00000263639 OTTHUMG00000188315 uc001jiq.5 BC005257 "NM_002443|NM_138634" "CCDS73095|CCDS73096" P08118 1783399 MGI:97166 RGD:3113 157145 233066 ligandId:10541 HGNC:7372 "ENST00000582163.3|NM_002443.4" -HGNC:10545 MSMO1 methylsterol monooxygenase 1 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "DESP4|ERG25" SC4MOL sterol-C4-methyl oxidase-like Fatty acid hydroxylase domain containing 552 1997-02-28 2011-09-01 2011-09-01 2023-01-20 6307 ENSG00000052802 OTTHUMG00000161126 uc003ire.4 U93162 NM_006745 "CCDS3809|CCDS43280" Q15800 8663358 MGI:1913484 RGD:620281 607545 470692 1.14.18.9 HGNC:10545 "ENST00000261507.11|NM_006745.5" HGNC:10545 +HGNC:7372 MSMB microseminoprotein beta protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "PSP-94|PSP57|PSP94|IGBF|MSP|MSPB|PN44|PRPS|PSP" beta-microseminoprotein microseminoprotein, beta- 1991-08-07 2016-06-29 2023-01-20 4477 ENSG00000263639 OTTHUMG00000188315 uc001jiq.5 BC005257 "NM_002443|NM_138634" "CCDS73096|CCDS73095" P08118 1783399 MGI:97166 RGD:3113 157145 233066 ligandId:10541 HGNC:7372 "ENST00000582163.3|NM_002443.4" +HGNC:10545 MSMO1 methylsterol monooxygenase 1 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "DESP4|ERG25" SC4MOL sterol-C4-methyl oxidase-like Fatty acid hydroxylase domain containing 552 1997-02-28 2011-09-01 2011-09-01 2023-01-20 6307 ENSG00000052802 OTTHUMG00000161126 uc003ire.4 U93162 NM_006745 "CCDS43280|CCDS3809" Q15800 8663358 MGI:1913484 RGD:620281 607545 470692 1.14.18.9 HGNC:10545 "ENST00000261507.11|NM_006745.5" HGNC:10545 HGNC:29663 MSMP microseminoprotein, prostate associated protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "PC-3|PSMP" 2009-02-27 2023-01-20 692094 ENSG00000215183 OTTHUMG00000019882 uc003zyb.3 DQ012170 NM_001044264 CCDS43797 Q1L6U9 17338636 MGI:3652339 RGD:2323536 612191 HGNC:29663 "ENST00000436428.3|NM_001044264.3" HGNC:7373 MSN moesin protein-coding gene gene with protein product Approved Xq12 Xq12 FERM domain containing 1293 1993-02-05 2023-01-20 4478 ENSG00000147065 OTTHUMG00000021723 uc064zqh.1 M69066 NM_002444 CCDS14382 P26038 "1924289|7628534" MGI:97167 RGD:621260 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MSN MSN 309845 470694 HGNC:7373 "ENST00000360270.7|NM_002444.3" HGNC:7373 HGNC:7374 MSNP1 moesin pseudogene 1 pseudogene pseudogene Approved 5p14.1 05p14.1 MSNL1 moesin-like 1 1993-07-15 2010-10-20 2010-10-20 2014-11-19 4479 ENSG00000251593 OTTHUMG00000161961 NG_003032 8188263 PGOHUM00000235534 HGNC:7374 HGNC:7376 MSR1 macrophage scavenger receptor 1 protein-coding gene gene with protein product Approved 8p22 08p22 "SCARA1|CD204|SR-AI|SR-AII|SR-AIII|SR-A" "CD molecules|Scavenger receptors|Scavenger receptor cysteine rich domain containing" "471|1253|1404" 1991-08-07 2023-01-20 4481 ENSG00000038945 OTTHUMG00000094809 uc003wwz.4 D13263 NM_001363744 P21757 2251254 MGI:98257 RGD:1564316 153622 297634 CD204 HGNC:7376 "ENST00000262101.10|NM_138715.3" HGNC:7376 -HGNC:7377 MSRA methionine sulfoxide reductase A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 1996-12-19 2023-01-20 4482 ENSG00000175806 OTTHUMG00000090517 uc003wsx.4 BC054033 NM_012331 "CCDS47798|CCDS56522|CCDS5975|CCDS47799" Q9UJ68 10452521 MGI:106916 RGD:70979 601250 1.8.4.11 HGNC:7377 "ENST00000317173.9|NM_012331.5" +HGNC:7377 MSRA methionine sulfoxide reductase A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 1996-12-19 2023-01-20 4482 ENSG00000175806 OTTHUMG00000090517 uc003wsx.4 BC054033 NM_012331 "CCDS5975|CCDS56522|CCDS47798|CCDS47799" Q9UJ68 10452521 MGI:106916 RGD:70979 601250 1.8.4.11 HGNC:7377 "ENST00000317173.9|NM_012331.5" HGNC:55400 MSRA-DT MSRA divergent transcript non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Divergent transcripts 1990 2020-12-21 2020-12-21 105379234 ENSG00000260093 XR_001745802 HGNC:14133 MSRB1 methionine sulfoxide reductase B1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SelR|SepR|SelX|SELENOX|SELENOR" selenoprotein R SEPX1 selenoprotein X, 1 Selenoproteins 890 2000-12-21 2012-03-01 2012-03-01 2023-01-20 51734 ENSG00000198736 OTTHUMG00000129143 uc021tam.2 AF166124 NM_016332 CCDS42100 Q9NZV6 "10608886|20634897" MGI:1351642 RGD:1583243 606216 HGNC:14133 "ENST00000361871.8|NM_016332.4" HGNC:43985 MSRB1P1 methionine sulfoxide reductase B1 pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 2012-05-22 2012-05-22 441849 ENSG00000213926 OTTHUMG00000168117 NG_030284 PGOHUM00000259330 HGNC:43985 @@ -21198,7 +21200,7 @@ HGNC:7397 MT1E metallothionein 1E protein-coding gene gene with protein product HGNC:7398 MT1F metallothionein 1F protein-coding gene gene with protein product Approved 16q13 16q13 MT1 Metallothioneins 638 1990-09-10 2007-03-02 2023-01-20 4494 ENSG00000198417 OTTHUMG00000176838 uc002ejt.4 BC029453 NM_005949 "CCDS32456|CCDS76872" P04733 "6089206|2581970" MGI:97171 156352 HGNC:7398 "ENST00000334350.7|NM_005949.4" HGNC:7399 MT1G metallothionein 1G protein-coding gene gene with protein product Approved 16q13 16q13 MT1K metallothionein 1K MT1 Metallothioneins 638 1990-09-10 2023-01-20 4495 ENSG00000125144 OTTHUMG00000133275 uc002eju.2 BC020757 NM_005950 "CCDS10766|CCDS76873" P13640 "3403543|6089206" MGI:97171 156353 HGNC:7399 "ENST00000379811.4|NM_001301267.2" HGNC:7400 MT1H metallothionein 1H protein-coding gene gene with protein product Approved 16q13 16q13 MT1 Metallothioneins 638 1990-09-10 2023-01-20 4496 ENSG00000205358 OTTHUMG00000133283 uc002ejw.3 BC008408 NM_005951 CCDS10767 P80294 "2286373|8049263" MGI:97171 156354 HGNC:7400 "ENST00000332374.5|NM_005951.2" -HGNC:31864 MT1HL1 metallothionein 1H like 1 protein-coding gene gene with protein product Approved 1q43 01q43 MT1P2 metallothionein 1 pseudogene 2 Metallothioneins 638 2007-03-01 2013-03-07 2017-01-20 2023-01-20 645745 ENSG00000244020 OTTHUMG00000040065 uc001hyk.2 AF333388 NM_001039954 CCDS31068 P0DM35 HGNC:31864 "ENST00000464121.3|NM_001276687.2" +HGNC:31864 MT1HL1 metallothionein 1H like 1 protein-coding gene gene with protein product Approved 1q43 01q43 MT1P2 metallothionein 1 pseudogene 2 Metallothioneins 638 2007-03-01 2013-03-07 2017-01-20 2023-01-20 645745 ENSG00000244020 OTTHUMG00000040065 uc001hyk.2 AF333388 NM_001039954 CCDS31068 P0DM35 RGD:2324335 HGNC:31864 "ENST00000464121.3|NM_001276687.2" HGNC:7401 MT1IP metallothionein 1I, pseudogene pseudogene pseudogene Approved 16q13 16q13 MTE "MT1|MT1I" metallothionein 1I Metallothioneins 638 1990-09-10 2007-03-01 2011-04-15 2020-04-03 644314 ENSG00000275691 OTTHUMG00000186942 AF348997 NR_003669 "2286373|6089206|8049263" 156355 HGNC:7401 HGNC:7402 MT1JP metallothionein 1J, pseudogene pseudogene pseudogene Approved 16q13 16q13 MTB "MT1|MT1NP|MT1J" "metallothionein 1N, pseudogene|metallothionein 1J" Metallothioneins 638 1990-09-10 2006-01-19 2011-04-15 2017-07-14 4498 ENSG00000255986 OTTHUMG00000176920 AF348994 NR_036677 "8049263|2286373|26909858" 156356 PGOHUM00000249143 HGNC:7402 HGNC:7404 MT1L metallothionein 1L, pseudogene pseudogene pseudogene Approved 16q13 16q13 "MTF|MT1R" MT1 metallothionein 1L (gene/pseudogene) Metallothioneins 638 1990-09-10 2017-01-20 2017-01-20 4500 ENSG00000260549 OTTHUMG00000176212 X97261 NR_001447 Q93083 "16395595|8049263|9074634" "MGI:97171|MGI:97172" 156358 HGNC:7404 @@ -21214,13 +21216,13 @@ HGNC:18705 MT4 metallothionein 4 protein-coding gene gene with protein product A HGNC:7410 MTA1 metastasis associated 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "GATA zinc finger domain containing|Myb/SANT domain containing|NuRD complex subunits" "82|532|1305" 1999-03-12 2023-01-20 9112 ENSG00000182979 OTTHUMG00000150362 uc001yqx.4 U35113 NM_001203258 "CCDS91957|CCDS91956|CCDS55954|CCDS32169" Q13330 "8083195|7607577" MGI:2150037 RGD:621018 603526 HGNC:7410 "ENST00000331320.12|NM_004689.4" HGNC:56032 MTA1-DT MTA1 divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 AL928654.1 Divergent transcripts 1990 2021-12-06 2022-10-14 100507437 ENSG00000251602 NR_125384 HGNC:7411 MTA2 metastasis associated 1 family member 2 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 MTA1-L1 MTA1L1 metastasis associated gene family, member 2 "GATA zinc finger domain containing|Myb/SANT domain containing|NuRD complex subunits" "82|532|1305" 1999-05-17 2003-12-17 2015-11-05 2023-01-20 9219 ENSG00000149480 OTTHUMG00000167684 uc001ntq.3 AB016591 NM_004739 "CCDS81576|CCDS8022" O94776 9929979 MGI:1346340 RGD:1306743 603947 HGNC:7411 "ENST00000278823.7|NM_004739.4" -HGNC:23784 MTA3 metastasis associated 1 family member 3 protein-coding gene gene with protein product Approved 2p21 02p21 KIAA1266 metastasis associated gene family, member 3 "GATA zinc finger domain containing|Myb/SANT domain containing|NuRD complex subunits" "82|532|1305" 2003-12-15 2015-11-05 2023-01-20 57504 ENSG00000057935 OTTHUMG00000150452 uc002rsq.5 AB033092 NM_020744 "CCDS82441|CCDS62900|CCDS46267" Q9BTC8 "12705869|14613024" MGI:2151172 RGD:1306803 609050 HGNC:23784 "ENST00000405094.2|NM_001330442.2" +HGNC:23784 MTA3 metastasis associated 1 family member 3 protein-coding gene gene with protein product Approved 2p21 02p21 KIAA1266 metastasis associated gene family, member 3 "GATA zinc finger domain containing|Myb/SANT domain containing|NuRD complex subunits" "82|532|1305" 2003-12-15 2015-11-05 2023-01-20 57504 ENSG00000057935 OTTHUMG00000150452 uc002rsq.5 AB033092 NM_020744 "CCDS46267|CCDS62900|CCDS82441" Q9BTC8 "12705869|14613024" MGI:2151172 RGD:1306803 609050 HGNC:23784 "ENST00000405094.2|NM_001330442.2" HGNC:54535 MTA3P1 MTA3 pseudogene 1 pseudogene pseudogene Approved 2q24.1 02q24.1 2019-10-11 2019-10-11 2019-10-11 2019-10-11 100130766 ENSG00000228937 NG_021532 HGNC:54535 -HGNC:7413 MTAP methylthioadenosine phosphorylase protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "MSAP|c86fus" S-methyl-5'-thioadenosine phosphorylase 2001-06-22 2023-01-20 4507 ENSG00000099810 OTTHUMG00000019690 uc003zph.4 AB062485 NM_002451 "CCDS6509|CCDS94392|CCDS94391" Q13126 11126361 MGI:1914152 RGD:1310114 156540 299625 2.4.2.28 HGNC:7413 "ENST00000644715.2|NM_002451.4" HGNC:7413 +HGNC:7413 MTAP methylthioadenosine phosphorylase protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "MSAP|c86fus" S-methyl-5'-thioadenosine phosphorylase 2001-06-22 2023-01-20 4507 ENSG00000099810 OTTHUMG00000019690 uc003zph.4 AB062485 NM_002451 "CCDS94391|CCDS94392|CCDS6509" Q13126 11126361 MGI:1914152 RGD:1310114 156540 299625 2.4.2.28 HGNC:7413 "ENST00000644715.2|NM_002451.4" HGNC:7413 HGNC:42442 MTAPP1 methylthioadenosine phosphorylase pseudogene 1 pseudogene pseudogene Approved 3q25.32 03q25.32 2011-07-28 2012-10-16 100874257 ENSG00000243025 OTTHUMG00000158805 NG_032516 PGOHUM00000263116 HGNC:42442 HGNC:42443 MTAPP2 methylthioadenosine phosphorylase pseudogene 2 pseudogene pseudogene Approved 3q28 03q28 2011-07-28 2011-07-28 100420621 ENSG00000230077 OTTHUMG00000156314 NG_031929 PGOHUM00000237901 HGNC:42443 HGNC:26189 MTARC1 mitochondrial amidoxime reducing component 1 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ22390 "MOSC1|MARC1" MOCO sulphurase C-terminal domain containing 1 2005-06-03 2019-09-23 2011-11-02 2023-01-20 64757 ENSG00000186205 OTTHUMG00000037353 uc001hms.4 AK026043 NM_022746 CCDS1526 Q5VT66 11886751 MGI:1913362 RGD:1592219 614126 HGNC:26189 "ENST00000366910.10|NM_022746.4" -HGNC:26064 MTARC2 mitochondrial amidoxime reducing component 2 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ20605 "MOSC2|MARC2" MOCO sulphurase C-terminal domain containing 2 2005-06-03 2019-09-23 2011-11-02 2023-01-20 54996 ENSG00000117791 OTTHUMG00000037354 uc001hmq.4 NM_017898 "CCDS1525|CCDS81425" Q969Z3 11886751 MGI:1914497 RGD:621257 614127 HGNC:26064 "ENST00000366913.8|NM_017898.5" +HGNC:26064 MTARC2 mitochondrial amidoxime reducing component 2 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ20605 "MOSC2|MARC2" MOCO sulphurase C-terminal domain containing 2 2005-06-03 2019-09-23 2011-11-02 2023-01-20 54996 ENSG00000117791 OTTHUMG00000037354 uc001hmq.4 NM_017898 "CCDS81425|CCDS1525" Q969Z3 11886751 MGI:1914497 RGD:621257 614127 HGNC:26064 "ENST00000366913.8|NM_017898.5" HGNC:56378 MTARC2P1 MTARC2 pseudogene 1 pseudogene pseudogene Approved 3p26.1 03p26.1 2022-10-18 2022-10-18 127379720 ENSG00000232958 PGOHUM00000299332 HGNC:44575 MTATP6P1 MT-ATP6 pseudogene 1 pseudogene pseudogene Approved 1p36.33 01p36.33 mitochondrially encoded ATP synthase 6 pseudogene 1 2012-11-16 2018-05-29 2018-05-31 106480796 ENSG00000248527 OTTHUMG00000002335 NG_045727 PGOHUM00000296179 HGNC:44575 HGNC:44576 MTATP6P2 MT-ATP6 pseudogene 2 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded ATP synthase 6 pseudogene 2 2012-11-16 2018-05-29 2018-05-29 100287745 ENSG00000270307 OTTHUMG00000185133 NG_027709 PGOHUM00000300695 HGNC:44576 @@ -21258,7 +21260,7 @@ HGNC:44572 MTATP8P2 MT-ATP8 pseudogene 2 pseudogene pseudogene Approved 2p11.2 0 HGNC:44573 MTATP8P3 MT-ATP8 pseudogene 3 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded ATP synthase 8 pseudogene 3 2012-11-16 2018-05-29 2018-05-29 107161229 NG_046707 HGNC:44573 HGNC:44574 MTATP8P4 MT-ATP8 pseudogene 4 pseudogene pseudogene Approved 10q24.2 10q24.2 mitochondrially encoded ATP synthase 8 pseudogene 4 2012-11-16 2018-05-29 2018-05-29 107080107 NG_046376 HGNC:44574 HGNC:7417 MTBP MDM2 binding protein protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "MDM2 (mouse double minute 2)-binding protein, 104kD|Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa" 2000-08-23 2014-03-03 2023-01-20 27085 ENSG00000172167 OTTHUMG00000165040 uc003ypc.3 NM_022045 CCDS6333 Q96DY7 "10906133|11060448" MGI:2146005 RGD:1565672 605927 HGNC:7417 "ENST00000305949.6|NM_022045.5" -HGNC:17586 MTCH1 mitochondrial carrier 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "CGI-64|PSAP|SLC25A49" solute carrier family 25, member 49 mitochondrial carrier homolog 1 (C. elegans) Solute carrier family 25 2176 2003-05-20 2011-05-19 2023-01-20 23787 ENSG00000137409 OTTHUMG00000014614 uc003onc.3 AF151822 NM_014341 "CCDS93905|CCDS64411|CCDS93906|CCDS4828" Q9NZJ7 12377771 MGI:1929261 RGD:1309262 610449 SLC25A49 objectId:2554 HGNC:17586 "ENST00000373627.10|NM_001271641.2" +HGNC:17586 MTCH1 mitochondrial carrier 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "CGI-64|PSAP|SLC25A49" "solute carrier family 25, member 49|presenilin-associated protein" mitochondrial carrier homolog 1 (C. elegans) Solute carrier family 25 2176 2003-05-20 2011-05-19 2023-06-07 23787 ENSG00000137409 OTTHUMG00000014614 uc003onc.3 AF151822 NM_014341 "CCDS64411|CCDS4828|CCDS93906|CCDS93905" Q9NZJ7 12377771 MGI:1929261 RGD:1309262 610449 SLC25A49 objectId:2554 HGNC:17586 "ENST00000373627.10|NM_001271641.2" HGNC:55886 MTCH1P1 MTCH1 pseudogene 1 pseudogene pseudogene Approved 6q24.1 06q24.1 2021-09-29 2021-09-29 100129577 ENSG00000216802 NG_022329 PGOHUM00000301573 HGNC:55887 MTCH1P2 MTCH1 pseudogene 2 pseudogene pseudogene Approved 11p15.1 11p15.1 2021-09-29 2021-09-29 100129966 ENSG00000256282 NG_021773 PGOHUM00000290412 HGNC:17587 MTCH2 mitochondrial carrier 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "SLC25A50|MIMP" solute carrier family 25, member 50 mitochondrial carrier homolog 2 (C. elegans) Solute carrier family 25 2176 2003-05-20 2011-05-19 2023-03-14 23788 ENSG00000109919 OTTHUMG00000166926 uc010rho.3 AF085361 NM_014342 CCDS7943 Q9Y6C9 36264797 MGI:1929260 RGD:1308080 613221 SLC25A50 objectId:2555 HGNC:17587 "ENST00000302503.8|NM_014342.4" @@ -21266,7 +21268,7 @@ HGNC:56546 MTCH2P1 MTCH2 pseudogene 1 pseudogene pseudogene Approved 3q22.3 03q2 HGNC:56547 MTCH2P2 MTCH2 pseudogene 2 pseudogene pseudogene Approved 12q22 12q22 2022-10-31 2022-10-31 100132126 ENSG00000258262 NG_009806 PGOHUM00000291764 HGNC:56548 MTCH2P3 MTCH2 pseudogene 3 pseudogene pseudogene Approved 16q21 16q21 2022-10-31 2022-10-31 100421594 ENSG00000260438 NG_026425 PGOHUM00000293880 HGNC:56549 MTCH2P4 MTCH2 pseudogene 4 pseudogene pseudogene Approved 16q12.2 16q12.2 2022-10-31 2022-10-31 100128523 ENSG00000260939 NG_009807 PGOHUM00000293610 -HGNC:29121 MTCL1 microtubule crosslinking factor 1 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "KIAA0802|CCDC165|SOGA2" "KIAA0802|coiled-coil domain containing 165|SOGA family member 2" 2004-04-29 2014-02-20 2014-02-20 2023-01-20 23255 ENSG00000168502 OTTHUMG00000131594 AB018345 NM_015210 "CCDS11841|CCDS92434|CCDS92432|CCDS92431|CCDS92433" Q9Y4B5 "9872452|23902687" MGI:1915867 RGD:1308319 615766 HGNC:29121 "ENST00000695636.1|NM_001395333.1" +HGNC:29121 MTCL1 microtubule crosslinking factor 1 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "KIAA0802|CCDC165|SOGA2" "KIAA0802|coiled-coil domain containing 165|SOGA family member 2" 2004-04-29 2014-02-20 2014-02-20 2023-01-20 23255 ENSG00000168502 OTTHUMG00000131594 AB018345 NM_015210 "CCDS11841|CCDS92433|CCDS92434|CCDS92432|CCDS92431" Q9Y4B5 "9872452|23902687" MGI:1915867 RGD:1308319 615766 HGNC:29121 "ENST00000695636.1|NM_001395333.1" HGNC:42040 MTCL1P1 MTCL1 pseudogene 1 pseudogene pseudogene Approved 13q21.33 13q21.33 "CCDC165P1|SOGA2P1" "coiled-coil domain containing 165 pseudogene 1|SOGA family member 2 pseudogene 1" 2011-06-01 2014-02-20 2014-02-20 2014-02-20 100288130 ENSG00000226554 OTTHUMG00000017058 NG_029110 PGOHUM00000248625 HGNC:42040 HGNC:7420 MTCO1P1 MT-CO1 pseudogene 1 pseudogene pseudogene Approved 21p11.2 21p11.2 "cytochrome c oxidase pseudogene 1|MTCO1 pseudogene 1|mitochondrially encoded cytochrome c oxidase I pseudogene 1" 2000-06-16 2018-05-29 2018-05-29 56167 ENSG00000280243 OTTHUMG00000189421 NG_027865 PGOHUM00000297309 HGNC:7420 HGNC:19932 MTCO1P2 MT-CO1 pseudogene 2 pseudogene pseudogene Approved 14q12 14q12 "cytochrome c oxidase pseudogene 2|MTCO1 pseudogene 2|mitochondrially encoded cytochrome c oxidase I pseudogene 2" 2003-01-13 2018-05-29 2018-05-29 326603 ENSG00000259045 OTTHUMG00000170593 NG_002593 PGOHUM00000292314 HGNC:19932 @@ -21459,16 +21461,16 @@ HGNC:52358 MTDHP2 metadherin pseudogene 2 pseudogene pseudogene Approved 19p12 1 HGNC:52359 MTDHP3 metadherin pseudogene 3 pseudogene pseudogene Approved 19p12 19p12 2016-07-28 2016-07-28 100418832 ENSG00000268433 OTTHUMG00000182869 NG_024168 PGOHUM00000294941 HGNC:52359 HGNC:52360 MTDHP4 metadherin pseudogene 4 pseudogene pseudogene Approved 19p12 19p12 2016-07-28 2016-07-28 100418834 ENSG00000268535 OTTHUMG00000182870 NG_024244 PGOHUM00000295284 HGNC:52360 HGNC:52361 MTDHP5 metadherin pseudogene 5 pseudogene pseudogene Approved 19p12 19p12 2016-07-28 2016-07-28 100418836 ENSG00000269575 OTTHUMG00000182932 NG_024248 PGOHUM00000295291 HGNC:52361 -HGNC:21463 MTERF1 mitochondrial transcription termination factor 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 MTERF mitochondrial transcription termination factor 2005-06-27 2014-06-26 2014-06-26 2023-01-20 7978 ENSG00000127989 OTTHUMG00000156057 Y09615 NM_006980 "CCDS75629|CCDS5621" Q99551 "15899902|14744862|7681833" MGI:1340032 RGD:621318 602318 HGNC:21463 "ENST00000351870.8|NM_006980.5" +HGNC:21463 MTERF1 mitochondrial transcription termination factor 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 MTERF mitochondrial transcription termination factor 2005-06-27 2014-06-26 2014-06-26 2023-01-20 7978 ENSG00000127989 OTTHUMG00000156057 Y09615 NM_006980 "CCDS5621|CCDS75629" Q99551 "15899902|14744862|7681833" MGI:1340032 RGD:621318 602318 HGNC:21463 "ENST00000351870.8|NM_006980.5" HGNC:56424 MTERF1P1 MTERF1 pseudogene 1 pseudogene pseudogene Approved 3p14.2 03p14.2 2022-10-19 2022-10-19 101060206 ENSG00000240097 PGOHUM00000299449 HGNC:30779 MTERF2 mitochondrial transcription termination factor 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 FLJ14062 MTERFD3 MTERF domain containing 3 2005-06-28 2014-06-26 2014-06-26 2023-01-20 80298 ENSG00000120832 OTTHUMG00000170007 NM_025198 CCDS9111 Q49AM1 "16193327|19366608" MGI:1921488 RGD:1311836 616929 HGNC:30779 "ENST00000240050.9|NM_001033050.3" HGNC:24258 MTERF3 mitochondrial transcription termination factor 3 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "CGI-12|FLJ10939" MTERFD1 MTERF domain containing 1 2005-06-28 2014-06-26 2014-06-26 2023-01-20 51001 ENSG00000156469 OTTHUMG00000164713 NM_015942 "CCDS6270|CCDS75772" Q96E29 "10810093|16193327|17662942" MGI:1913660 RGD:735158 616930 HGNC:24258 "ENST00000287025.4|NM_015942.5" -HGNC:28785 MTERF4 mitochondrial transcription termination factor 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 MGC61716 MTERFD2 MTERF domain containing 2 2005-06-28 2014-06-26 2014-06-26 2023-01-20 130916 ENSG00000122085 OTTHUMG00000133393 NM_182501 "CCDS2544|CCDS82584" Q7Z6M4 "16193327|21531335" MGI:1918355 RGD:1562440 615393 HGNC:28785 "ENST00000391980.7|NM_182501.4" +HGNC:28785 MTERF4 mitochondrial transcription termination factor 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 MGC61716 MTERFD2 MTERF domain containing 2 2005-06-28 2014-06-26 2014-06-26 2023-01-20 130916 ENSG00000122085 OTTHUMG00000133393 NM_182501 "CCDS82584|CCDS2544" Q7Z6M4 "16193327|21531335" MGI:1918355 RGD:1562440 615393 HGNC:28785 "ENST00000391980.7|NM_182501.4" HGNC:7428 MTF1 metal regulatory transcription factor 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 1994-11-01 2016-07-01 2023-01-20 4520 ENSG00000188786 OTTHUMG00000004439 uc001cce.1 BC014454 NM_005955 CCDS30676 Q14872 8065932 MGI:101786 RGD:1308956 600172 HGNC:7428 "ENST00000373036.5|NM_005955.3" HGNC:7428 -HGNC:29535 MTF2 metal response element binding transcription factor 2 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "M96|PCL2|TDRD19A" "polycomb-like 2|tudor domain containing 19A" "PHD finger proteins|Tudor domain containing" "88|780" 2005-05-24 2023-01-20 22823 ENSG00000143033 OTTHUMG00000010161 uc009wdj.4 AJ010014 NM_007358 "CCDS53340|CCDS742|CCDS53341" Q9Y483 15563832 MGI:105050 RGD:1304727 609882 HGNC:29535 "ENST00000370298.9|NM_007358.4" +HGNC:29535 MTF2 metal response element binding transcription factor 2 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "M96|PCL2|TDRD19A" "polycomb-like 2|tudor domain containing 19A" "PHD finger proteins|Tudor domain containing" "88|780" 2005-05-24 2023-01-20 22823 ENSG00000143033 OTTHUMG00000010161 uc009wdj.4 AJ010014 NM_007358 "CCDS53340|CCDS53341|CCDS742" Q9Y483 15563832 MGI:105050 RGD:1304727 609882 HGNC:29535 "ENST00000370298.9|NM_007358.4" HGNC:29666 MTFMT mitochondrial methionyl-tRNA formyltransferase protein-coding gene gene with protein product Approved 15q22.31 15q22.31 FMT1 2005-07-19 2005-08-09 2023-01-20 123263 ENSG00000103707 OTTHUMG00000172371 uc002aof.5 AK055688 NM_139242 CCDS45280 Q96DP5 9614118 MGI:1916856 RGD:1309462 611766 299657 2.1.2.9 HGNC:29666 "ENST00000220058.9|NM_139242.4" HGNC:29666 HGNC:26945 MTFP1 mitochondrial fission process 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "MTP18|HSPC242" 2010-09-02 2023-01-20 51537 ENSG00000242114 OTTHUMG00000151057 uc003ahw.3 AF151076 NM_016498 "CCDS33635|CCDS33634" Q9UDX5 "15155745|15985469" MGI:1916686 RGD:1359705 610235 HGNC:26945 "ENST00000266263.10|NM_016498.5" -HGNC:29510 MTFR1 mitochondrial fission regulator 1 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "CHPPR|KIAA0009|FAM54A2" likely ortholog of chicken chondrocyte protein with a poly proline region 2005-08-02 2023-01-20 9650 ENSG00000066855 OTTHUMG00000164468 uc003xvm.3 NM_014637 "CCDS55240|CCDS6182" Q15390 "7584026|7584028|15389597" MGI:1914722 RGD:1304936 619414 HGNC:29510 "ENST00000262146.9|NM_014637.4" +HGNC:29510 MTFR1 mitochondrial fission regulator 1 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "CHPPR|KIAA0009|FAM54A2" likely ortholog of chicken chondrocyte protein with a poly proline region 2005-08-02 2023-01-20 9650 ENSG00000066855 OTTHUMG00000164468 uc003xvm.3 NM_014637 "CCDS6182|CCDS55240" Q15390 "7584026|7584028|15389597" MGI:1914722 RGD:1304936 619414 HGNC:29510 "ENST00000262146.9|NM_014637.4" HGNC:28836 MTFR1L mitochondrial fission regulator 1 like protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FAM54B "family with sequence similarity 54, member B|mitochondrial fission regulator 1-like" 2005-05-24 2012-11-29 2016-03-08 2023-01-20 56181 ENSG00000117640 OTTHUMG00000007377 uc001bkq.5 NM_019557 "CCDS41284|CCDS44089" Q9H019 "8619474|9110174" MGI:1924074 RGD:1305453 HGNC:28836 "ENST00000374303.7|NM_001099625.2" HGNC:54981 MTFR1P1 MTFR1 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 2020-05-14 2020-05-14 100128171 ENSG00000231356 NG_011583 HGNC:21115 MTFR2 mitochondrial fission regulator 2 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "DUFD1|FAM54A" "DUF729 domain containing 1|family with sequence similarity 54, member A" 2003-05-20 2012-11-29 2012-11-29 2023-01-20 113115 ENSG00000146410 OTTHUMG00000015643 uc003qgt.2 BC011716 NM_138419 CCDS5176 Q6P444 MGI:1919054 RGD:6494892 HGNC:21115 "ENST00000420702.6|NM_001099286.3" @@ -21477,7 +21479,7 @@ HGNC:54774 MTFR2P2 MTFR2 pseudogene 2 pseudogene pseudogene Approved 22q13.1 22q HGNC:32159 MTG1 mitochondrial ribosome associated GTPase 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 GTPBP7 "GTP-binding protein 7|GTP-binding protein 7 (putative)|mitochondrial GTPase 1 homolog (S. cerevisiae)|mitochondrial ribosome-associated GTPase 1" 2005-08-15 2006-01-09 2016-04-05 2023-01-20 92170 ENSG00000148824 OTTHUMG00000166564 uc001lnd.4 NM_138384 CCDS31320 Q9BT17 "12808030|23396448" MGI:2685015 RGD:6497155 HGNC:32159 "ENST00000317502.11|NM_138384.4" HGNC:16239 MTG2 mitochondrial ribosome associated GTPase 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ10741|dJ1005F21.2|ObgH1" GTPBP5 "GTP-binding protein 5 (putative)|GTP binding protein 5 (putative)|mitochondrial ribosome-associated GTPase 2" 2001-07-17 2013-05-24 2016-04-05 2023-01-20 26164 ENSG00000101181 OTTHUMG00000032897 AK001603 NM_015666 CCDS13492 Q9H4K7 "17054726|23396448" MGI:106565 RGD:1359243 610919 HGNC:16239 "ENST00000370823.8|NM_015666.4" HGNC:7432 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "MTHFC|MTHFD" methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase Minor histocompatibility antigens 870 1999-07-23 2016-05-03 2023-01-20 4522 ENSG00000100714 OTTHUMG00000141309 uc001xhb.4 J04031 NM_001364837 "CCDS91885|CCDS9763" P11586 "3053686|2786332" MGI:1342005 RGD:708531 LRG_1243|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1243.xml 172460 138561 "1.5.1.5|3.5.4.9|6.3.4.3" HGNC:7432 "ENST00000652337.1|NM_005956.4" -HGNC:21055 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "DKFZP586G1517|FLJ21145" "10-formyl-THF synthetase|mitochondrial C1-tetrahydrofolate synthase|monofunctional C1-tetrahydrofolate synthase, mitochondrial" FTHFSDC1 formyltetrahydrofolate synthetase domain containing 1 2003-05-27 2004-12-14 2017-06-13 2023-01-20 25902 ENSG00000120254 OTTHUMG00000015828 uc003qob.4 BC017477 NM_015440 "CCDS5228|CCDS75535|CCDS75536|CCDS56457" Q6UB35 18804703 MGI:1924836 RGD:1307311 611427 470696 6.3.4.3 HGNC:21055 "ENST00000367321.8|NM_015440.5" +HGNC:21055 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "DKFZP586G1517|FLJ21145" "10-formyl-THF synthetase|mitochondrial C1-tetrahydrofolate synthase|monofunctional C1-tetrahydrofolate synthase, mitochondrial" FTHFSDC1 formyltetrahydrofolate synthetase domain containing 1 2003-05-27 2004-12-14 2017-06-13 2023-01-20 25902 ENSG00000120254 OTTHUMG00000015828 uc003qob.4 BC017477 NM_015440 "CCDS5228|CCDS75536|CCDS75535|CCDS56457" Q6UB35 18804703 MGI:1924836 RGD:1307311 611427 470696 6.3.4.3 HGNC:21055 "ENST00000367321.8|NM_015440.5" HGNC:7433 MTHFD1P1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 "MTHFDL1|MTHFDP1" 1999-07-23 2012-02-29 4523 ENSG00000231831 OTTHUMG00000021683 S57009 NG_013232 1916813 PGOHUM00000261943 HGNC:7433 HGNC:7434 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase protein-coding gene gene with protein product Approved 2p13.1 02p13.1 1999-07-23 2023-03-15 10797 ENSG00000065911 OTTHUMG00000129814 uc002skk.4 X16396 NM_001410192 CCDS1935 P13995 "2587219|8218174" MGI:1338850 RGD:1311313 604887 HGNC:7434 "ENST00000394053.7|NM_006636.4" HGNC:31865 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like protein-coding gene gene with protein product Approved 4q13.3 04q13.3 MGC72244 2004-12-13 2017-06-13 2023-03-15 441024 ENSG00000163738 OTTHUMG00000157135 uc011cbk.3 BC065771 NM_001004346 CCDS47075 Q9H903 21163947 MGI:1915871 RGD:1310879 614047 HGNC:31865 "ENST00000325278.7|NM_001144978.3" @@ -21488,27 +21490,27 @@ HGNC:48862 MTHFD2P4 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, HGNC:48863 MTHFD2P5 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 5 pseudogene pseudogene Approved 7q21.11 07q21.11 2013-06-19 2013-06-19 442707 ENSG00000213530 OTTHUMG00000154816 NG_005547 PGOHUM00000232904 HGNC:48863 HGNC:48864 MTHFD2P6 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 6 pseudogene pseudogene Approved 5p13.1 05p13.1 2013-06-19 2013-06-19 100130042 ENSG00000249266 OTTHUMG00000162085 NG_021846 PGOHUM00000235204 HGNC:48864 HGNC:48865 MTHFD2P7 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 7 pseudogene pseudogene Approved 3q26.33 03q26.33 2013-06-19 2013-06-19 442098 ENSG00000181260 OTTHUMG00000157481 NG_022282 PGOHUM00000238276 HGNC:48865 -HGNC:7436 MTHFR methylenetetrahydrofolate reductase protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "5,10-methylenetetrahydrofolate reductase (NADPH)|methylenetetrahydrofolate reductase (NAD(P)H)" 1994-07-15 2016-08-10 2023-01-20 4524 ENSG00000177000 OTTHUMG00000002277 uc001atc.3 BC053509 NM_005957 "CCDS81262|CCDS137|CCDS90864" P42898 7920641 MGI:106639 RGD:1309952 LRG_726|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_726.xml 607093 123529 1.5.1.20 HGNC:7436 "ENST00000376590.9|NM_005957.5" HGNC:7436 +HGNC:7436 MTHFR methylenetetrahydrofolate reductase protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "5,10-methylenetetrahydrofolate reductase (NADPH)|methylenetetrahydrofolate reductase (NAD(P)H)" 1994-07-15 2016-08-10 2023-01-20 4524 ENSG00000177000 OTTHUMG00000002277 uc001atc.3 BC053509 NM_005957 "CCDS137|CCDS81262|CCDS90864" P42898 7920641 MGI:106639 RGD:1309952 LRG_726|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_726.xml 607093 123529 1.5.1.20 HGNC:7436 "ENST00000376590.9|NM_005957.5" HGNC:7436 HGNC:7437 MTHFS methenyltetrahydrofolate synthetase protein-coding gene gene with protein product Approved 15q25.1 15q25.1 HsT19268 "5,10-methenyltetrahydrofolate synthetase|5-formyltetrahydrofolate cyclo-ligase" 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 1999-07-09 2017-01-03 2023-01-20 10588 ENSG00000136371 OTTHUMG00000144174 uc002bex.5 L38928 NM_006441 CCDS10311 P49914 8522195 MGI:1340032 RGD:1306876 604197 470698 6.3.3.2 HGNC:7437 "ENST00000258874.4|NM_006441.4" -HGNC:25778 MTHFSD methenyltetrahydrofolate synthetase domain containing protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FLJ12998 RNA binding motif containing 725 2006-04-07 2023-01-20 64779 ENSG00000103248 OTTHUMG00000176480 uc010vor.3 AK023060 NM_022764 "CCDS42211|CCDS54048|CCDS54047|CCDS58490" Q2M296 26525917 MGI:2679252 RGD:1584226 616820 HGNC:25778 "ENST00000360900.11|NM_001159377.2" +HGNC:25778 MTHFSD methenyltetrahydrofolate synthetase domain containing protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FLJ12998 RNA binding motif containing 725 2006-04-07 2023-01-20 64779 ENSG00000103248 OTTHUMG00000176480 uc010vor.3 AK023060 NM_022764 "CCDS54047|CCDS54048|CCDS58490|CCDS42211" Q2M296 26525917 MGI:2679252 RGD:1584226 616820 HGNC:25778 "ENST00000360900.11|NM_001159377.2" HGNC:7441 MTIF2 mitochondrial translational initiation factor 2 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 IF-2mt 1998-06-25 2023-01-20 4528 ENSG00000085760 OTTHUMG00000129338 uc061jgd.1 L34600 NM_002453 CCDS1853 P46199 "9925935|7829522" MGI:1924034 RGD:1303046 603766 HGNC:7441 "ENST00000263629.9|NM_002453.3" HGNC:14861 MTIF2P1 mitochondrial translational initiation factor 2 pseudogene 1 pseudogene pseudogene Approved 1p11.2 01p11.2 2001-03-14 2018-11-21 80713 ENSG00000233432 OTTHUMG00000013090 AY091592 NG_002684 12932832 PGOHUM00000296504 HGNC:14861 HGNC:29788 MTIF3 mitochondrial translational initiation factor 3 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "IF-3mt|IF3(mt)" 2006-11-03 2023-01-20 219402 ENSG00000122033 OTTHUMG00000016633 uc001urj.4 BC046166 NM_152912 CCDS9322 Q9H2K0 12095986 MGI:1923616 RGD:1592673 619554 HGNC:29788 "ENST00000381120.8|NM_152912.5" HGNC:7444 MTL3P metallothionein-like 3, pseudogene pseudogene pseudogene Approved 18q22.1 18q22.1 MTL3 metallothionein-like 3 2001-06-22 2010-10-21 2010-10-21 2020-04-07 4531 ENSG00000264697 OTTHUMG00000178550 NG_032177 HGNC:7444 HGNC:27339 MTLN mitoregulin protein-coding gene gene with protein product Approved 2q13 02q13 "MOXI|LEMP|MPM|TILR" "micropeptide regulator of β-oxidation|lncRNA encoded micropeptide|micropeptide in mitochondria|TP53-inhibiting lncRNA" "NCRNA00116|LINC00116|SMIM37" "non-protein coding RNA 116|long intergenic non-protein coding RNA 116|small integral membrane protein 37" 2008-09-12 2018-06-14 2018-06-14 2023-03-15 205251 ENSG00000175701 OTTHUMG00000131194 uc002tfq.3 BC031315 NM_001355251 CCDS92837 Q8NCU8 "29949756|29949755" MGI:1915135 RGD:10401149 HGNC:27339 "ENST00000611969.5|NM_001384134.1" HGNC:7448 MTM1 myotubularin 1 protein-coding gene gene with protein product Approved Xq28 Xq28 myotubular myopathy 1 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 2001-06-22 2023-01-20 4534 ENSG00000171100 OTTHUMG00000024158 uc004fef.5 U46024 NM_000252 CCDS14694 Q13496 MGI:1099452 RGD:1304582 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=MTM1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MTM1|LRG_839|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_839.xml" 300415 123531 3.1.3.64 HGNC:7448 "ENST00000370396.7|NM_000252.3" HGNC:7448 -HGNC:7449 MTMR1 myotubularin related protein 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 1998-12-16 2023-03-15 8776 ENSG00000063601 OTTHUMG00000024159 uc004fei.4 U58032 "NM_003828|NM_176789" "CCDS78512|CCDS78513|CCDS94687|CCDS14695" Q13613 9828128 MGI:1858271 RGD:1306569 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MTMR1 300171 HGNC:7449 "ENST00000445323.7|NM_001306144.3" +HGNC:7449 MTMR1 myotubularin related protein 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 1998-12-16 2023-03-15 8776 ENSG00000063601 OTTHUMG00000024159 uc004fei.4 U58032 "NM_003828|NM_176789" "CCDS14695|CCDS78512|CCDS78513|CCDS94687" Q13613 9828128 MGI:1858271 RGD:1306569 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MTMR1 300171 HGNC:7449 "ENST00000445323.7|NM_001306144.3" HGNC:7450 MTMR2 myotubularin related protein 2 protein-coding gene gene with protein product Approved 11q21 11q21 KIAA1073 "phosphatidylinositol-3-phosphatase|phosphoinositide-3-phosphatase" CMT4B "Myotubularins|Phosphoinositide phosphatases" "903|1079" 1999-02-05 2023-01-20 8898 ENSG00000087053 OTTHUMG00000153837 uc001pfu.4 U58033 NM_016156 "CCDS8306|CCDS8305" Q13614 "8640223|9736772" MGI:1924366 RGD:1311865 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_257|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_257.xml" 603557 123533 3.1.3.64 HGNC:7450 "ENST00000346299.10|NM_016156.6" HGNC:7450 -HGNC:7451 MTMR3 myotubularin related protein 3 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "KIAA0371|ZFYVE10|FYVE-DSP1" "Zinc fingers FYVE-type|Myotubularins|Phosphoinositide phosphatases|MicroRNA protein coding host genes" "81|903|1079|1691" 1999-02-05 2023-01-20 8897 ENSG00000100330 OTTHUMG00000151278 uc003agv.5 U58034 NM_021090 "CCDS46682|CCDS13871|CCDS13870" Q13615 "8640223|9736772" MGI:1921552 RGD:1310972 603558 HGNC:7451 "ENST00000401950.7|NM_021090.4" -HGNC:7452 MTMR4 myotubularin related protein 4 protein-coding gene gene with protein product Approved 17q22 17q22 "KIAA0647|ZFYVE11" "Zinc fingers FYVE-type|Myotubularins|Phosphoinositide phosphatases" "81|903|1079" 1999-02-05 2023-01-20 9110 ENSG00000108389 OTTHUMG00000179079 uc002iwj.3 AB014547 NM_004687 "CCDS11608|CCDS92367" Q9NYA4 9736772 MGI:2180699 RGD:1310306 603559 HGNC:7452 "ENST00000682306.1|NM_001378067.1" +HGNC:7451 MTMR3 myotubularin related protein 3 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "KIAA0371|ZFYVE10|FYVE-DSP1" "Zinc fingers FYVE-type|Myotubularins|Phosphoinositide phosphatases|MicroRNA protein coding host genes" "81|903|1079|1691" 1999-02-05 2023-01-20 8897 ENSG00000100330 OTTHUMG00000151278 uc003agv.5 U58034 NM_021090 "CCDS13870|CCDS13871|CCDS46682" Q13615 "8640223|9736772" MGI:1921552 RGD:1310972 603558 HGNC:7451 "ENST00000401950.7|NM_021090.4" +HGNC:7452 MTMR4 myotubularin related protein 4 protein-coding gene gene with protein product Approved 17q22 17q22 "KIAA0647|ZFYVE11" "Zinc fingers FYVE-type|Myotubularins|Phosphoinositide phosphatases" "81|903|1079" 1999-02-05 2023-01-20 9110 ENSG00000108389 OTTHUMG00000179079 uc002iwj.3 AB014547 NM_004687 "CCDS92367|CCDS11608" Q9NYA4 9736772 MGI:2180699 RGD:1310306 603559 HGNC:7452 "ENST00000682306.1|NM_001378067.1" HGNC:7453 MTMR6 myotubularin related protein 6 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 1999-02-05 2023-01-20 9107 ENSG00000139505 OTTHUMG00000016606 uc001uqf.6 AF072928 NM_004685 CCDS9313 Q9Y217 9736772 MGI:2145637 RGD:1305378 603561 HGNC:7453 "ENST00000381801.6|NM_004685.5" HGNC:7454 MTMR7 myotubularin related protein 7 protein-coding gene gene with protein product Approved 8p22 08p22 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 1999-02-05 2023-01-20 9108 ENSG00000003987 OTTHUMG00000163771 uc003wxm.4 AF073482 NM_004686 CCDS34851 Q9Y216 "9736772|12890864" MGI:1891693 RGD:1306608 603562 HGNC:7454 "ENST00000180173.10|NM_004686.5" HGNC:16825 MTMR8 myotubularin related protein 8 protein-coding gene gene with protein product Approved Xq11.2 Xq11.2 FLJ20126 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 2002-09-05 2023-01-20 55613 ENSG00000102043 OTTHUMG00000021707 uc004dvs.4 AK000133 NM_017677 CCDS14379 Q96EF0 11275328 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MTMR8 301061 HGNC:16825 "ENST00000374852.4|NM_017677.4" HGNC:14596 MTMR9 myotubularin related protein 9 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "DKFZp434K171|LIP-STYX" "C8orf9|MTMR8" myotubularin related protein 8 Myotubularins 903 2001-02-14 2002-09-06 2002-09-05 2023-01-20 66036 ENSG00000104643 OTTHUMG00000090647 uc003wtm.4 AJ297823 NM_015458 CCDS5979 Q96QG7 "11472061|11896452|12890864" MGI:2442842 RGD:628840 606260 HGNC:14596 "ENST00000221086.8|NM_015458.4" HGNC:27920 MTMR9LP myotubularin related protein 9 like, pseudogene pseudogene pseudogene Approved 1p35.2 01p35.2 MTMR9L myotubularin related protein 9-like 2009-07-09 2010-10-28 2019-02-18 2019-02-18 339483 ENSG00000220785 OTTHUMG00000007461 NR_026850 12477932 HGNC:27920 HGNC:25999 MTMR10 myotubularin related protein 10 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 FLJ20313 Myotubularins 903 2005-04-07 2023-01-20 54893 ENSG00000166912 OTTHUMG00000175662 uc001zfh.1 AK000320 NM_017762 CCDS45204 Q9NXD2 12495846 MGI:2142292 RGD:1305958 HGNC:25999 "ENST00000435680.6|NM_017762.3" -HGNC:24307 MTMR11 myotubularin related protein 11 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 CRA cisplatin resistance associated Myotubularins 903 2005-04-07 2023-03-15 10903 ENSG00000014914 OTTHUMG00000012207 uc001etl.5 AK097000 NM_181873 "CCDS72902|CCDS72901" A4FU01 12495846 MGI:2652817 RGD:1589965 HGNC:24307 "ENST00000439741.4|NM_001145862.2" -HGNC:18191 MTMR12 myotubularin related protein 12 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "3-PAP|FLJ20476|KIAA1682|3PAP" PIP3AP phosphatidylinositol-3-phosphate associated protein Myotubularins 903 2003-09-26 2005-04-07 2005-04-07 2023-01-20 54545 ENSG00000150712 OTTHUMG00000161978 uc003jhq.4 AB051469 NM_001040446 "CCDS75230|CCDS77998|CCDS34138" Q9C0I1 "11504939|12495846" MGI:2443034 RGD:1307902 606501 HGNC:18191 "ENST00000382142.8|NM_001040446.3" +HGNC:24307 MTMR11 myotubularin related protein 11 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 CRA cisplatin resistance associated Myotubularins 903 2005-04-07 2023-03-15 10903 ENSG00000014914 OTTHUMG00000012207 uc001etl.5 AK097000 NM_181873 "CCDS72901|CCDS72902" A4FU01 12495846 MGI:2652817 RGD:1589965 HGNC:24307 "ENST00000439741.4|NM_001145862.2" +HGNC:18191 MTMR12 myotubularin related protein 12 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "3-PAP|FLJ20476|KIAA1682|3PAP" PIP3AP phosphatidylinositol-3-phosphate associated protein Myotubularins 903 2003-09-26 2005-04-07 2005-04-07 2023-01-20 54545 ENSG00000150712 OTTHUMG00000161978 uc003jhq.4 AB051469 NM_001040446 "CCDS34138|CCDS75230|CCDS77998" Q9C0I1 "11504939|12495846" MGI:2443034 RGD:1307902 606501 HGNC:18191 "ENST00000382142.8|NM_001040446.3" HGNC:55888 MTMR12P1 MTMR12 pseudogene 1 pseudogene pseudogene Approved 11q22.1 11q22.1 2021-09-29 2021-09-29 100420510 ENSG00000255504 NG_024554 PGOHUM00000291116 HGNC:26190 MTMR14 myotubularin related protein 14 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "FLJ22405|FLJ90311|hJumpy|hEDTP" egg-derived tyrosine phosphatase homolog (Drosophila) C3orf29 chromosome 3 open reading frame 29 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 2005-12-22 2006-12-18 2006-12-18 2023-01-20 64419 ENSG00000163719 OTTHUMG00000155111 uc003brz.4 BC001674 NM_022485 "CCDS43045|CCDS43044|CCDS43043" Q8NCE2 15186772 MGI:1916075 RGD:1304842 611089 139178 HGNC:26190 "ENST00000296003.9|NM_001077525.3" HGNC:26190 HGNC:38728 MTND1P1 MT-ND1 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 "MTND1 pseudogene 1|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 1" 2010-07-28 2018-05-29 2018-05-29 100499468 ENSG00000226529 OTTHUMG00000041272 NG_023506 HGNC:38728 @@ -21777,7 +21779,7 @@ HGNC:3942 MTOR mechanistic target of rapamycin kinase protein-coding gene gene w HGNC:40242 MTOR-AS1 MTOR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 MTOR antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100873935 ENSG00000225602 OTTHUMG00000002003 uc031plf.2 NR_046600 MTOR-AS1 HGNC:40242 HGNC:25532 MTPAP mitochondrial poly(A) polymerase protein-coding gene gene with protein product Approved 10p11.23 10p11.23 "FLJ10486|SPAX4|TENT6" TUTase1 PAPD1 PAP associated domain containing 1 "Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "1318|1619" 2004-04-07 2009-01-12 2009-01-12 2023-01-20 55149 ENSG00000107951 OTTHUMG00000017895 uc001iva.5 AL122121 NM_018109 CCDS7165 Q9NVV4 "12239557|15769737|15547249" MGI:1914690 RGD:1310900 613669 311271 HGNC:25532 "ENST00000263063.9|NM_018109.4" HGNC:25532 HGNC:15667 MTPN myotrophin protein-coding gene gene with protein product Approved 7q33 07q33 "MYOTROPHIN|GCDP|V-1" granule cell differentiation protein Ankyrin repeat domain containing 403 2001-08-16 2023-01-20 136319 ENSG00000105887 OTTHUMG00000155627 uc003vte.5 AC015987 NM_145808 CCDS5842 P58546 11474205 MGI:99445 RGD:619806 606484 HGNC:15667 "ENST00000393085.4|NM_145808.4" -HGNC:7468 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase protein-coding gene gene with protein product Approved 1q43 01q43 cblG Methionine synthase "Methyltransferase families|Homocysteine methyltransferases" "1398|2065" 1986-01-01 2023-01-20 4548 ENSG00000116984 OTTHUMG00000040060 uc001hyi.5 U73338 NM_000254 "CCDS1614|CCDS73054|CCDS91175" Q99707 8968735 MGI:894292 RGD:621283 MTR database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MTR 156570 123572 objectId:3099 2.1.1.13 HGNC:7468 "ENST00000366577.10|NM_000254.3" HGNC:7468 +HGNC:7468 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase protein-coding gene gene with protein product Approved 1q43 01q43 cblG Methionine synthase "Methyltransferase families|Homocysteine methyltransferases" "1398|2065" 1986-01-01 2023-01-20 4548 ENSG00000116984 OTTHUMG00000040060 uc001hyi.5 U73338 NM_000254 "CCDS91175|CCDS1614|CCDS73054" Q99707 8968735 MGI:894292 RGD:621283 MTR database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MTR 156570 123572 objectId:3099 2.1.1.13 HGNC:7468 "ENST00000366577.10|NM_000254.3" HGNC:7468 HGNC:17971 MTRES1 mitochondrial transcription rescue factor 1 protein-coding gene gene with protein product Approved 6q21 06q21 "HSPC230|PRED31" C6orf203 chromosome 6 open reading frame 203 2003-08-21 2019-06-24 2019-06-24 2023-01-20 51250 ENSG00000130349 OTTHUMG00000015307 uc003prq.5 AF151064 NM_016487 "CCDS78167|CCDS5058" Q9P0P8 "31226201|31396629" MGI:1915101 RGD:1597785 618583 HGNC:17971 "ENST00000311381.8|NM_016487.5" HGNC:54502 MTRES1P1 MTRES1 pseudogene 1 pseudogene pseudogene Approved 6q25.2 06q25.2 2019-08-28 2019-08-28 100129996 ENSG00000220181 OTTHUMG00000015874 NG_022378 PGOHUM00000306602 HGNC:54502 HGNC:18734 MTREX Mtr4 exosome RNA helicase protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "Mtr4|Dob1|fSAP118" functional spliceosome-associated protein 118 "KIAA0052|SKIV2L2" "KIAA0052|superkiller viralicidic activity 2-like 2 (S. cerevisiae)|Ski2 like RNA helicase 2" "Nuclear exosome targeting complex|Ski2 like RNA helicases" "1316|1559" 2004-07-02 2017-11-24 2017-11-24 2023-01-20 23517 ENSG00000039123 OTTHUMG00000097019 uc003jpy.5 D29641 NM_015360 CCDS3967 P42285 "16782053|21855801" MGI:1919448 RGD:1305984 618122 3.6.4.13 HGNC:18734 "ENST00000230640.10|NM_015360.5" @@ -21800,34 +21802,34 @@ HGNC:37168 MTRNR2L11 MT-RNR2 like 11 (pseudogene) pseudogene pseudogene Approved HGNC:37169 MTRNR2L12 MT-RNR2 like 12 (pseudogene) pseudogene pseudogene Approved 3q11.2 03q11.2 "humanin-like 12|HN12 lncRNA" "MT-RNR2-like 12 (pseudogene)|MT-RNR2 like 12" 2010-06-29 2021-10-28 2022-06-28 100463498 ENSG00000269028 OTTHUMG00000175726 uc062lty.1 NG_023159 P0DMP1 "19477263|27853370" HGNC:37169 HGNC:37170 MTRNR2L13 MT-RNR2 like 13 (pseudogene) pseudogene pseudogene Approved 4q26 04q26 humanin-like 13 "MT-RNR2-like 13 (pseudogene)|MT-RNR2 like 13" 2010-06-29 2021-10-28 2021-10-28 100463500 ENSG00000270394 OTTHUMG00000184994 uc021xqy.2 NG_023160 S4R3P1 19477263 HGNC:37170 HGNC:7473 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase protein-coding gene gene with protein product Approved 5p15.31 05p15.31 cblE Methionine synthase reductase 1998-04-20 2023-01-20 4552 ENSG00000124275 OTTHUMG00000090477 uc003jee.5 AF025794 NM_001364440 CCDS47190 Q9UBK8 9501215 MGI:1891037 RGD:1308671 MTRR database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MTRR 602568 123574 1.16.1.8 HGNC:7473 "ENST00000440940.7|NM_002454.3" HGNC:7473 -HGNC:20443 MTSS1 MTSS I-BAR domain containing 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "KIAA0429|MIMA|MIMB|MIM" missing in metastasis "metastasis suppressor 1|MTSS1, I-BAR domain containing" I-BAR domain containing 1287 2003-03-11 2019-01-22 2023-01-20 9788 ENSG00000170873 OTTHUMG00000048189 uc003yrk.4 AF086645 NM_014751 "CCDS6353|CCDS64969|CCDS64968" O43312 "12482861|12082544" MGI:2384818 RGD:1309883 608486 HGNC:20443 "ENST00000518547.6|NM_014751.6" +HGNC:20443 MTSS1 MTSS I-BAR domain containing 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "KIAA0429|MIMA|MIMB|MIM" missing in metastasis "metastasis suppressor 1|MTSS1, I-BAR domain containing" I-BAR domain containing 1287 2003-03-11 2019-01-22 2023-01-20 9788 ENSG00000170873 OTTHUMG00000048189 uc003yrk.4 AF086645 NM_014751 "CCDS6353|CCDS64968|CCDS64969" O43312 "12482861|12082544" MGI:2384818 RGD:1309883 608486 HGNC:20443 "ENST00000518547.6|NM_014751.6" HGNC:25094 MTSS2 MTSS I-BAR domain containing 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "ABBA-1|LOC92154|ABBA" actin-bundling protein with BAIAP2 homology MTSS1L "metastasis suppressor 1 like|MTSS1L, I-BAR domain containing" I-BAR domain containing 1287 2008-12-05 2019-01-22 2019-01-22 2023-01-20 92154 ENSG00000132613 OTTHUMG00000177023 uc002ezj.4 NM_138383 CCDS32476 Q765P7 20875796 MGI:3039591 RGD:1309731 616951 HGNC:25094 "ENST00000338779.11|NM_138383.3" -HGNC:7467 MTTP microsomal triglyceride transfer protein protein-coding gene gene with protein product Approved 4q23 04q23 ABL MTP "microsomal triglyceride transfer protein (large polypeptide, 88kD)|microsomal triglyceride transfer protein (large polypeptide, 88kDa)" 1994-12-07 2005-11-04 2005-11-04 2023-01-20 4547 ENSG00000138823 OTTHUMG00000131023 uc003hvc.5 NM_000253 "CCDS3651|CCDS75169" P55157 8111381 MGI:106926 RGD:1308388 157147 123576 HGNC:7467 "ENST00000265517.10|NM_001386140.1" HGNC:7467 +HGNC:7467 MTTP microsomal triglyceride transfer protein protein-coding gene gene with protein product Approved 4q23 04q23 ABL MTP "microsomal triglyceride transfer protein (large polypeptide, 88kD)|microsomal triglyceride transfer protein (large polypeptide, 88kDa)" 1994-12-07 2005-11-04 2005-11-04 2023-01-20 4547 ENSG00000138823 OTTHUMG00000131023 uc003hvc.5 NM_000253 "CCDS75169|CCDS3651" P55157 8111381 MGI:106926 RGD:1308388 157147 123576 HGNC:7467 "ENST00000265517.10|NM_001386140.1" HGNC:7467 HGNC:25457 MTURN maturin, neural progenitor differentiation regulator homolog protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "FLJ25903|Ells1" C7orf41 "chromosome 7 open reading frame 41|maturin, neural progenitor differentiation regulator homolog (Xenopus)" 2006-08-08 2013-10-07 2016-07-26 2023-01-20 222166 ENSG00000180354 OTTHUMG00000128559 NM_152793 CCDS5425 Q8N3F0 24095902 MGI:1915485 RGD:1549700 HGNC:25457 "ENST00000324453.13|NM_152793.3" -HGNC:29789 MTUS1 microtubule associated scaffold protein 1 protein-coding gene gene with protein product Approved 8p22 08p22 "MTSG1|KIAA1288|DKFZp586D1519|FLJ14295|ATIP1|MP44|ATBP|ICIS|ATIP3" "AT2 receptor-interacting protein|AT2R binding protein|mitochondrial tumor suppressor gene 1" "mitochondrial tumor suppressor 1|microtubule associated tumor suppressor 1" MicroRNA protein coding host genes 1691 2004-04-05 2017-02-14 2023-01-20 57509 ENSG00000129422 OTTHUMG00000163756 uc003wxt.4 AL096842 NM_001001924 "CCDS43719|CCDS83254|CCDS55204|CCDS43718|CCDS43717|CCDS43716" Q9ULD2 "10574462|12692079|20889352" MGI:2142572 RGD:631381 609589 HGNC:29789 "ENST00000693296.1|NM_001363059.2" +HGNC:29789 MTUS1 microtubule associated scaffold protein 1 protein-coding gene gene with protein product Approved 8p22 08p22 "MTSG1|KIAA1288|DKFZp586D1519|FLJ14295|ATIP1|MP44|ATBP|ICIS|ATIP3" "AT2 receptor-interacting protein|AT2R binding protein|mitochondrial tumor suppressor gene 1" "mitochondrial tumor suppressor 1|microtubule associated tumor suppressor 1" MicroRNA protein coding host genes 1691 2004-04-05 2017-02-14 2023-01-20 57509 ENSG00000129422 OTTHUMG00000163756 uc003wxt.4 AL096842 NM_001001924 "CCDS43719|CCDS43718|CCDS43716|CCDS43717|CCDS83254|CCDS55204" Q9ULD2 "10574462|12692079|20889352" MGI:2142572 RGD:631381 609589 HGNC:29789 "ENST00000693296.1|NM_001363059.2" HGNC:55525 MTUS1-DT MTUS1 divergent transcript non-coding RNA RNA, long non-coding Approved 8p22 08p22 Divergent transcripts 1990 2021-03-18 2021-03-18 101930275 ENSG00000253944 HGNC:20595 MTUS2 microtubule associated scaffold protein 2 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "TIP150|CAZIP|ICIS" "+TIP of 150 kDa|cardiac zipper protein" KIAA0774 "KIAA0774|microtubule associated tumor suppressor candidate 2" 2003-11-21 2009-10-20 2017-02-14 2023-01-20 23281 ENSG00000132938 OTTHUMG00000016657 uc001usm.5 AB018317 NM_001033602 "CCDS41874|CCDS45022" Q5JR59 "19543227|20889352" MGI:1915388 RGD:1562533 619358 HGNC:20595 "ENST00000612955.6|NM_001033602.4" HGNC:40924 MTUS2-AS1 MTUS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 MTUS2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-09 2012-08-15 2014-11-19 100874107 ENSG00000179141 OTTHUMG00000016656 uc001usn.4 NR_046378 MTUS2-AS1 HGNC:40924 -HGNC:40923 MTUS2-AS2 MTUS2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 MTUS2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-09 2012-08-15 2014-11-19 100874106 ENSG00000236758 OTTHUMG00000016655 uc058wcq.1 MTUS2-AS2 +HGNC:40923 MTUS2-AS2 MTUS2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 MTUS2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-09 2012-08-15 2014-11-19 100874106 ENSG00000236758 OTTHUMG00000016655 uc058wcq.1 NR_046704 MTUS2-AS2 HGNC:7504 MTX1 metaxin 1 protein-coding gene gene with protein product Approved 1q22 01q22 MTXN MTX Metaxins 1682 1999-07-14 2023-01-20 4580 ENSG00000173171 OTTHUMG00000035708 uc001fjb.4 NM_198883 "CCDS1100|CCDS1101" Q13505 7753840 MGI:103025 RGD:1559791 600605 HGNC:7504 "ENST00000368376.8|NM_002455.5" HGNC:7505 MTX1LP metaxin 1 like, pseudogene pseudogene pseudogene Approved 1q22 01q22 "MTXP|MTX1P|MTX1P1" "metaxin 1 pseudogene|metaxin 1 pseudogene 1" 1999-07-14 2023-05-18 2023-05-18 2023-05-18 4581 ENSG00000236675 OTTHUMG00000035843 U46921 NG_001160 7753840 PGOHUM00000245012 HGNC:7505 HGNC:7506 MTX2 metaxin 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 Metaxins 1682 1999-07-14 2023-03-15 10651 ENSG00000128654 OTTHUMG00000132514 uc002ukx.4 AF053551 NM_006554 CCDS2272 O75431 "10381257|17624330" MGI:1859652 RGD:1306473 608555 HGNC:7506 "ENST00000249442.11|NM_006554.5" HGNC:7506 -HGNC:24812 MTX3 metaxin 3 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 Metaxins 1682 2004-08-18 2023-01-20 345778 ENSG00000177034 OTTHUMG00000162547 uc010jag.4 BX538064 NM_001010891 "CCDS54872|CCDS47239|CCDS87308" Q5HYI7 15087125 MGI:2686040 RGD:1583002 619336 HGNC:24812 "ENST00000512528.3|NM_001363818.2" -HGNC:7508 MUC1 mucin 1, cell surface associated protein-coding gene gene with protein product Approved 1q22 01q22 "CD227|PEM|ADMCKD|ADMCKD1|MCKD|MCD|KL-6|EMA|Ca15-3" epithelial membrane antigen "PUM|MCKD1" "mucin 1, transmembrane|medullary cystic kidney disease 1 (autosomal dominant)" "CD molecules|Mucins" "471|648" 1986-01-01 2006-03-14 2023-03-15 4582 ENSG00000185499 OTTHUMG00000035681 uc001fik.4 J05581 NM_002456 "CCDS41409|CCDS72936|CCDS72934|CCDS72935|CCDS30882|CCDS30883|CCDS1098|CCDS55642|CCDS55641|CCDS55640|CCDS41408" P15941 "1697589|23396133" MGI:97231 RGD:3122 MUC1 158340 330730 S71.001 CD227 HGNC:7508 HGNC:7508 +HGNC:24812 MTX3 metaxin 3 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 Metaxins 1682 2004-08-18 2023-01-20 345778 ENSG00000177034 OTTHUMG00000162547 uc010jag.4 BX538064 NM_001010891 "CCDS87308|CCDS47239|CCDS54872" Q5HYI7 15087125 MGI:2686040 RGD:1583002 619336 HGNC:24812 "ENST00000512528.3|NM_001363818.2" +HGNC:7508 MUC1 mucin 1, cell surface associated protein-coding gene gene with protein product Approved 1q22 01q22 "CD227|PEM|ADMCKD|ADMCKD1|MCKD|MCD|KL-6|EMA|Ca15-3" epithelial membrane antigen "PUM|MCKD1" "mucin 1, transmembrane|medullary cystic kidney disease 1 (autosomal dominant)" "CD molecules|Mucins" "471|648" 1986-01-01 2006-03-14 2023-03-15 4582 ENSG00000185499 OTTHUMG00000035681 uc001fik.4 J05581 NM_002456 "CCDS72934|CCDS55642|CCDS55640|CCDS30883|CCDS41409|CCDS41408|CCDS72936|CCDS72935|CCDS55641|CCDS1098|CCDS30882" P15941 "1697589|23396133" MGI:97231 RGD:3122 MUC1 158340 330730 S71.001 CD227 HGNC:7508 HGNC:7508 HGNC:7512 MUC2 mucin 2, oligomeric mucus/gel-forming protein-coding gene gene with protein product Approved 11p15.5 11p15.5 mucin 2, intestinal/tracheal Mucins 648 1989-02-13 2006-03-14 2017-08-14 4583 ENSG00000198788 OTTHUMG00000156800 uc057xrp.1 L21998 NM_002457 Q02817 15081123 MGI:1339364 RGD:3123 158370 I08.951 HGNC:7512 HGNC:7513 MUC3A mucin 3A, cell surface associated protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MUC3 mucin 3A, intestinal Mucins 648 1990-02-27 2006-03-14 2023-01-20 4584 ENSG00000169894 OTTHUMG00000157038 uc033aad.2 AF113616 NM_005960 CCDS78262 Q02505 "2393399|10973822" MGI:3588263 RGD:6485223 158371 HGNC:7513 "ENST00000379458.9|NM_005960.2" HGNC:13384 MUC3B mucin 3B, cell surface associated protein-coding gene gene with protein product Approved 7q22 not on reference assembly 07q22 not on reference assembly mucin 3B Mucins 648 2000-09-27 2006-03-14 2015-02-09 57876 AJ291390 XM_047444977 Q9H195 10973822 MGI:3588263 605633 S71.002 -HGNC:7514 MUC4 mucin 4, cell surface associated protein-coding gene gene with protein product Approved 3q29 03q29 mucin 4, tracheobronchial Mucins 648 1991-05-22 2006-03-14 2023-01-20 4585 ENSG00000145113 OTTHUMG00000151827 uc021xjp.3 AJ276359 NM_018406 "CCDS3311|CCDS54700|CCDS3310" Q99102 1673336 MGI:2153525 RGD:621331 158372 HGNC:7514 "ENST00000463781.8|NM_018406.7" +HGNC:7514 MUC4 mucin 4, cell surface associated protein-coding gene gene with protein product Approved 3q29 03q29 mucin 4, tracheobronchial Mucins 648 1991-05-22 2006-03-14 2023-01-20 4585 ENSG00000145113 OTTHUMG00000151827 uc021xjp.3 AJ276359 NM_018406 "CCDS54700|CCDS3311|CCDS3310" Q99102 1673336 MGI:2153525 RGD:621331 158372 HGNC:7514 "ENST00000463781.8|NM_018406.7" HGNC:7515 MUC5AC mucin 5AC, oligomeric mucus/gel-forming protein-coding gene gene with protein product Approved 11p15.5 11p15.5 MUC5 mucin 5, subtypes A and C, tracheobronchial/gastric Mucins 648 1995-04-05 2006-03-14 2023-01-20 4586 ENSG00000215182 OTTHUMG00000154270 uc031xcx.2 "AJ001402|AJ298317" NM_001304359 CCDS76369 P98088 "7826332|9588204" MGI:104697 RGD:62001 158373 I08.951 HGNC:7515 "ENST00000621226.2|NM_001304359.2" HGNC:7516 MUC5B mucin 5B, oligomeric mucus/gel-forming protein-coding gene gene with protein product Approved 11p15.5 11p15.5 MG1 MUC5 mucin 5, subtype B, tracheobronchial "Mucins|MicroRNA protein coding host genes" "648|1691" 1991-12-03 2006-03-14 2023-01-20 727897 ENSG00000117983 OTTHUMG00000166494 uc001lta.4 "U95031|AF086604" NM_002458 CCDS44515 Q9HC84 9804771 MGI:1921430 RGD:1561983 600770 268049 I08.953 HGNC:7516 "ENST00000529681.5|NM_002458.3" HGNC:53936 MUC5B-AS1 MUC5B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Antisense RNAs 1987 2018-06-15 2018-06-15 112577518 ENSG00000255177 OTTHUMG00000166615 NR_157183 29670111 HGNC:53936 HGNC:7517 MUC6 mucin 6, oligomeric mucus/gel-forming protein-coding gene gene with protein product Approved 11p15.5 11p15.5 mucin 6, gastric Mucins 648 1992-09-29 2006-03-14 2023-01-20 4588 ENSG00000184956 OTTHUMG00000165140 uc001lsw.3 "U97698|AY312160" NM_005961 CCDS44513 Q6W4X9 7680650 MGI:2663233 RGD:628826 158374 HGNC:7517 "ENST00000421673.7|NM_005961.3" -HGNC:7518 MUC7 mucin 7, secreted protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "FLJ27047|MG2" mucin 7, salivary Mucins 648 1993-06-04 2006-03-14 2023-01-20 4589 ENSG00000171195 OTTHUMG00000129916 uc011cat.3 BC025688 NM_152291 CCDS3541 Q8TAX7 8838308 158375 HGNC:7518 "ENST00000304887.6|NM_152291.3" +HGNC:7518 MUC7 mucin 7, secreted protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "FLJ27047|MG2" mucin 7, salivary "Mucins|Secretory calcium-binding phosphoprotein family" "648|2245" 1993-06-04 2006-03-14 2023-01-20 4589 ENSG00000171195 OTTHUMG00000129916 uc011cat.3 BC025688 NM_152291 CCDS3541 Q8TAX7 8838308 158375 HGNC:7518 "ENST00000304887.6|NM_152291.3" HGNC:7519 MUC8 mucin 8 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 mucin 8, tracheobronchial Mucins 648 1995-05-15 2006-03-14 2020-04-20 100129528 U14383 XM_047429967 "8002930|9070607" 601932 HGNC:7519 HGNC:7510 MUC12 mucin 12, cell surface associated protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MUC11 mucin 11 Mucins 648 1999-05-14 2006-03-14 2023-01-20 10071 ENSG00000205277 OTTHUMG00000157042 uc003uxo.4 "AF147790|AF147791" NM_001164462 CCDS55139 Q9UKN1 10463611 MGI:5590319 604609 HGNC:7510 "ENST00000536621.6|NM_001164462.2" HGNC:40382 MUC12-AS1 MUC12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 Antisense RNAs 1987 2019-08-16 2019-08-16 102724094 ENSG00000227053 OTTHUMG00000157034 NR_120519 HGNC:40382 HGNC:7511 MUC13 mucin 13, cell surface associated protein-coding gene gene with protein product Approved 3q21.2 03q21.2 DRCC1 "down-regulated in colon cancer 1|mucin 13, epithelial transmembrane" Mucins 648 2000-07-31 2006-03-14 2023-01-20 56667 ENSG00000173702 OTTHUMG00000159484 uc032sai.1 AF286113 NM_033049 CCDS33839 Q9H3R2 11278439 MGI:103190 RGD:708547 612181 HGNC:7511 "ENST00000616727.4|NM_033049.4" -HGNC:14956 MUC15 mucin 15, cell surface associated protein-coding gene gene with protein product Approved 11p14.2 11p14.2 Mucins 648 2001-11-26 2006-03-14 2023-01-20 143662 ENSG00000169550 OTTHUMG00000166112 uc001mqx.4 AJ417818 NM_145650 "CCDS44556|CCDS44557|CCDS7859" Q8N387 12047385 MGI:2442110 RGD:1589864 608566 HGNC:14956 "ENST00000529533.6|NM_001135091.2" +HGNC:14956 MUC15 mucin 15, cell surface associated protein-coding gene gene with protein product Approved 11p14.2 11p14.2 Mucins 648 2001-11-26 2006-03-14 2023-01-20 143662 ENSG00000169550 OTTHUMG00000166112 uc001mqx.4 AJ417818 NM_145650 "CCDS44557|CCDS44556|CCDS7859" Q8N387 12047385 MGI:2442110 RGD:1589864 608566 HGNC:14956 "ENST00000529533.6|NM_001135091.2" HGNC:15582 MUC16 mucin 16, cell surface associated protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "CA125|FLJ14303|CA-125" cancer antigen 125 Mucins 648 2001-07-20 2006-03-14 2023-01-20 94025 ENSG00000181143 OTTHUMG00000169191 uc002mkp.3 AF414442 NM_024690 CCDS54212 Q8WXI7 11369781 MGI:1920982 RGD:1308422 606154 HGNC:15582 HGNC:16800 MUC17 mucin 17, cell surface associated protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Mucins 648 2001-12-04 2006-03-14 2023-01-20 140453 ENSG00000169876 OTTHUMG00000157030 uc003uxp.2 AJ606307 NM_001040105 CCDS34711 Q685J3 11855812 MGI:1203527 RGD:3124 608424 HGNC:16800 "ENST00000306151.9|NM_001040105.2" HGNC:14362 MUC19 mucin 19, oligomeric protein-coding gene gene with protein product Approved 12q12 12q12 FLJ35746 Mucins 648 2003-08-27 2006-03-14 2018-11-16 283463 ENSG00000205592 OTTHUMG00000060732 uc058msm.1 AY236870 NM_173600 Q7Z5P9 "12882755|18184611|17667140" MGI:2676278 RGD:1624205 612170 HGNC:14362 @@ -21843,35 +21845,35 @@ HGNC:49202 MUPP major urinary protein, pseudogene pseudogene pseudogene Approved HGNC:29814 MUS81 MUS81 structure-specific endonuclease subunit protein-coding gene gene with protein product Approved 11q13 11q13 "FLJ44872|SLX3" SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae) "MUS81 endonuclease homolog (yeast)|MUS81 endonuclease homolog (S. cerevisiae)" 2004-01-27 2013-07-03 2023-01-20 80198 ENSG00000172732 OTTHUMG00000166633 uc001ofv.5 NM_025128 CCDS8115 Q96NY9 "11741546|12374758" MGI:1918961 RGD:1311957 606591 HGNC:29814 "ENST00000308110.9|NM_025128.5" HGNC:7525 MUSK muscle associated receptor tyrosine kinase protein-coding gene gene with protein product Approved 9q31.3 09q31.3 muscle, skeletal, receptor tyrosine kinase "Receptor tyrosine kinases|I-set domain containing|Immunoglobulin like domain containing" "321|593|594" 1997-04-10 2016-04-19 2023-01-20 4593 ENSG00000030304 OTTHUMG00000020485 uc064vaj.1 AF006464 NM_001166280 "CCDS75874|CCDS48005" O15146 7546737 MGI:103581 RGD:3211 601296 160311 objectId:1847 HGNC:7525 "ENST00000374448.9|NM_005592.4" HGNC:7525 HGNC:22144 MUSTN1 musculoskeletal, embryonic nuclear protein 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 Mustang 2004-03-10 2023-01-20 389125 ENSG00000272573 OTTHUMG00000159024 uc003dga.5 NM_205853 CCDS46846 Q8IVN3 MGI:1913425 RGD:727804 617195 HGNC:22144 "ENST00000446157.3|NM_205853.4" -HGNC:7527 MUTYH mutY DNA glycosylase protein-coding gene gene with protein product Approved 1p34.1 01p34.1 MYH mutY homolog (E. coli) DNA glycosylases 1024 1997-10-24 2015-06-23 2023-03-15 4595 ENSG00000132781 OTTHUMG00000007682 uc001cnm.4 U63329 NM_012222 "CCDS41322|CCDS72777|CCDS41321|CCDS72776|CCDS520|CCDS90938" Q9UIF7 "7823963|10684930" MGI:1917853 RGD:620045 "MUTYH @ LOVD|http://www.LOVD.nl/MUTYH|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MUTYH|LRG_220|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_220.xml" MUTYH 604933 123585 HGNC:7527 "ENST00000456914.7|NM_001048174.2" HGNC:7527 +HGNC:7527 MUTYH mutY DNA glycosylase protein-coding gene gene with protein product Approved 1p34.1 01p34.1 MYH mutY homolog (E. coli) DNA glycosylases 1024 1997-10-24 2015-06-23 2023-03-15 4595 ENSG00000132781 OTTHUMG00000007682 uc001cnm.4 U63329 NM_012222 "CCDS72776|CCDS72777|CCDS41322|CCDS520|CCDS41321|CCDS90938" Q9UIF7 "7823963|10684930" MGI:1917853 RGD:620045 "MUTYH @ LOVD|http://www.LOVD.nl/MUTYH|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MUTYH|LRG_220|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_220.xml" MUTYH 604933 123585 HGNC:7527 "ENST00000456914.7|NM_001048174.2" HGNC:7527 HGNC:25153 MVB12A multivesicular body subunit 12A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 FLJ32495 FAM125A family with sequence similarity 125, member A ESCRT-I 1116 2006-08-15 2012-12-03 2012-12-03 2023-01-20 93343 ENSG00000141971 OTTHUMG00000166252 uc060viu.1 BC011840 NM_138401 CCDS12359 Q96EY5 "18005716|20654576|22232651" MGI:1920961 RGD:735220 HGNC:25153 "ENST00000317040.12|NM_138401.4" -HGNC:23368 MVB12B multivesicular body subunit 12B protein-coding gene gene with protein product Approved 9q33.3 09q33.3 FLJ00001 "C9orf28|FAM125B" "chromosome 9 open reading frame 28|family with sequence similarity 125, member B" ESCRT-I 1116 2003-11-14 2012-12-03 2012-12-03 2023-01-20 89853 ENSG00000196814 OTTHUMG00000020687 uc004bqh.3 AK000001 NM_033446 "CCDS48022|CCDS35142" Q9H7P6 "18005716|20654576|22232651" MGI:1919793 RGD:1309709 HGNC:23368 "ENST00000361171.8|NM_033446.3" +HGNC:23368 MVB12B multivesicular body subunit 12B protein-coding gene gene with protein product Approved 9q33.3 09q33.3 FLJ00001 "C9orf28|FAM125B" "chromosome 9 open reading frame 28|family with sequence similarity 125, member B" ESCRT-I 1116 2003-11-14 2012-12-03 2012-12-03 2023-01-20 89853 ENSG00000196814 OTTHUMG00000020687 uc004bqh.3 AK000001 NM_033446 "CCDS35142|CCDS48022" Q9H7P6 "18005716|20654576|22232651" MGI:1919793 RGD:1309709 HGNC:23368 "ENST00000361171.8|NM_033446.3" HGNC:7529 MVD mevalonate diphosphate decarboxylase protein-coding gene gene with protein product Approved 16q24.2 16q24.2 MPD "mevalonate pyrophosphate decarboxylase|diphosphomevalonate decarboxylase" mevalonate (diphospho) decarboxylase 1997-12-05 2015-12-04 2023-01-20 4597 ENSG00000167508 OTTHUMG00000137865 uc002flg.2 U49260 NM_002461 CCDS10968 P53602 8626466 MGI:2179327 RGD:621292 603236 444568 objectId:642 4.1.1.33 HGNC:7529 "ENST00000301012.8|NM_002461.3" HGNC:7529 -HGNC:7530 MVK mevalonate kinase protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "LRBP|MK" "LH receptor mRNA-binding protein|mevalonic aciduria" mevalonate kinase (mevalonic aciduria) 1992-10-06 2008-01-30 2023-01-20 4598 ENSG00000110921 OTTHUMG00000169256 uc009zvk.4 M88468 NM_000431 "CCDS73522|CCDS9132" Q03426 1377680 MGI:107624 RGD:621295 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_156|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_156.xml" 251170 123588 objectId:640 2.7.1.36 HGNC:7530 "ENST00000228510.8|NM_000431.4" HGNC:7530 +HGNC:7530 MVK mevalonate kinase protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "LRBP|MK" "LH receptor mRNA-binding protein|mevalonic aciduria" mevalonate kinase (mevalonic aciduria) 1992-10-06 2008-01-30 2023-01-20 4598 ENSG00000110921 OTTHUMG00000169256 uc009zvk.4 M88468 NM_000431 "CCDS9132|CCDS73522" Q03426 1377680 MGI:107624 RGD:621295 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_156|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_156.xml" 251170 123588 objectId:640 2.7.1.36 HGNC:7530 "ENST00000228510.8|NM_000431.4" HGNC:7530 HGNC:7531 MVP major vault protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "LRP|VAULT1" lung resistance-related protein 2000-07-31 2023-01-20 9961 ENSG00000013364 OTTHUMG00000048227 uc002duj.3 X79882 NM_005115 CCDS10656 Q14764 7585126 MGI:1925638 RGD:70932 605088 HGNC:7531 "ENST00000357402.10|NM_005115.5" HGNC:56029 MVP-DT MVP divergent transcript non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 AC009133.12 Divergent transcripts 1990 2021-12-03 2021-12-03 123706527 ENSG00000238045 -HGNC:7532 MX1 MX dynamin like GTPase 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "IFI-78K|MxA|lncMX1-215" interferon-inducible protein p78 "myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)|myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)" 1988-05-11 2016-02-15 2023-01-20 4599 ENSG00000157601 OTTHUMG00000086755 uc002yzh.5 NM_001144925 "CCDS74796|CCDS13673" P20591 17570575 "MGI:97243|MGI:97244" RGD:3127 147150 HGNC:7532 "ENST00000398598.8|NM_002462.5" +HGNC:7532 MX1 MX dynamin like GTPase 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "IFI-78K|MxA|lncMX1-215" interferon-inducible protein p78 "myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)|myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)" 1988-05-11 2016-02-15 2023-01-20 4599 ENSG00000157601 OTTHUMG00000086755 uc002yzh.5 NM_001144925 "CCDS13673|CCDS74796" P20591 17570575 "MGI:97243|MGI:97244" RGD:3127 147150 HGNC:7532 "ENST00000398598.8|NM_002462.5" HGNC:7533 MX2 MX dynamin like GTPase 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 MXB "interferon-regulated resistance GTP-binding protein MXB|second interferon-induced protein p78" "myxovirus (influenza) resistance 2, homolog of murine|myxovirus (influenza virus) resistance 2 (mouse)" 1988-08-12 2016-02-15 2023-01-20 4600 ENSG00000183486 OTTHUMG00000086753 uc002yzf.2 NM_002463 CCDS13672 P20592 "2481229|8798556" "MGI:97243|MGI:97244" RGD:628821 147890 HGNC:7533 "ENST00000330714.8|NM_002463.2" HGNC:7533 HGNC:6761 MXD1 MAX dimerization protein 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "MAD1|bHLHc58" MAD "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 1994-02-16 2005-02-11 2023-01-20 4084 ENSG00000059728 OTTHUMG00000129646 uc010yqs.3 NM_002357 "CCDS1896|CCDS56123" Q05195 7829091 MGI:96908 RGD:1564525 600021 HGNC:6761 "ENST00000264444.7|NM_002357.4" HGNC:14008 MXD3 MAX dimerization protein 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "MAD3|bHLHc13" "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 2002-11-12 2023-01-20 83463 ENSG00000213347 OTTHUMG00000130854 uc063kct.1 BC000745 NM_001142935 "CCDS4416|CCDS47347" Q9BW11 MGI:104987 RGD:628624 609450 HGNC:14008 "ENST00000439742.7|NM_031300.4" HGNC:13906 MXD4 MAX dimerization protein 4 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "MAD4|MSTP149|MST149|bHLHc12" "Basic helix-loop-helix proteins|MAX dimerization proteins|MicroRNA protein coding host genes" "420|637|1691" 2002-11-12 2023-01-20 10608 ENSG00000123933 OTTHUMG00000090243 uc003geu.2 NM_006454 CCDS3361 Q14582 8521822 MGI:104991 RGD:1305093 620016 HGNC:13906 "ENST00000337190.7|NM_006454.3" -HGNC:7534 MXI1 MAX interactor 1, dimerization protein protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "MXD2|MAD2|MXI|bHLHc11" "MAX interacting protein 1|MAX interactor 1" "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 1994-02-16 2012-11-15 2023-01-20 4601 ENSG00000119950 OTTHUMG00000019033 uc001kyy.3 BC016678 NM_130439 "CCDS7563|CCDS31284|CCDS7564" P50539 7959753 MGI:97245 RGD:3128 600020 HGNC:7534 "ENST00000332674.9|NM_130439.3" +HGNC:7534 MXI1 MAX interactor 1, dimerization protein protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "MXD2|MAD2|MXI|bHLHc11" "MAX interacting protein 1|MAX interactor 1" "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 1994-02-16 2012-11-15 2023-01-20 4601 ENSG00000119950 OTTHUMG00000019033 uc001kyy.3 BC016678 NM_130439 "CCDS7563|CCDS7564|CCDS31284" P50539 7959753 MGI:97245 RGD:3128 600020 HGNC:7534 "ENST00000332674.9|NM_130439.3" HGNC:7539 MXRA5 matrix remodeling associated 5 protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 DKFZp564I1922 adlican matrix-remodelling associated 5 I-set domain containing 593 2000-06-15 2016-05-13 2023-01-20 25878 ENSG00000101825 OTTHUMG00000021083 uc004crg.6 AF245505 NM_015419 CCDS14124 Q9NR99 12101425 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MXRA5 300938 HGNC:7539 "ENST00000217939.7|NM_015419.4" HGNC:23932 MXRA5Y matrix remodeling associated 5 Y-linked (pseudogene) pseudogene pseudogene Approved Yq11.21 Yq11.21 ADLICANP adlican pseudogene "MXRA5P|MXRA5P1" "matrix-remodelling associated 5 pseudogene|matrix-remodelling associated 5 pseudogene 1" 2007-07-25 2014-05-07 2018-04-30 2018-04-30 286544 ENSG00000235649 OTTHUMG00000036377 NG_002806 12815422 PGOHUM00000233951 HGNC:23932 -HGNC:7541 MXRA7 matrix remodeling associated 7 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ46603|TMAP1|PS1TP1" matrix-remodelling associated 7 2000-06-15 2016-05-13 2023-01-20 439921 ENSG00000182534 OTTHUMG00000180370 uc002jsk.2 BC053983 NM_001008529 "CCDS32746|CCDS45786|CCDS32745|CCDS86640" P84157 MGI:1914872 RGD:1594666 HGNC:7541 "ENST00000449428.7|NM_198530.4" +HGNC:7541 MXRA7 matrix remodeling associated 7 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ46603|TMAP1|PS1TP1" matrix-remodelling associated 7 2000-06-15 2016-05-13 2023-01-20 439921 ENSG00000182534 OTTHUMG00000180370 uc002jsk.2 BC053983 NM_001008529 "CCDS45786|CCDS86640|CCDS32746|CCDS32745" P84157 MGI:1914872 RGD:1594666 HGNC:7541 "ENST00000449428.7|NM_198530.4" HGNC:54643 MXRA7P1 MXRA7 pseudogene 1 pseudogene pseudogene Approved 2q24.2 02q24.2 2019-10-31 2019-11-06 100506055 ENSG00000232320 NG_029258 -HGNC:7542 MXRA8 matrix remodeling associated 8 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 DKFZp586E2023 limitrin matrix-remodelling associated 8 V-set domain containing 590 2000-06-15 2016-05-13 2023-01-20 54587 ENSG00000162576 OTTHUMG00000002973 uc001aew.5 BC006213 NM_032348 "CCDS59950|CCDS59951|CCDS59952|CCDS24" Q9BRK3 14603461 MGI:1922011 RGD:1359356 617293 HGNC:7542 "ENST00000309212.11|NM_032348.4" +HGNC:7542 MXRA8 matrix remodeling associated 8 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 DKFZp586E2023 limitrin matrix-remodelling associated 8 V-set domain containing 590 2000-06-15 2016-05-13 2023-01-20 54587 ENSG00000162576 OTTHUMG00000002973 uc001aew.5 BC006213 NM_032348 "CCDS59951|CCDS59950|CCDS24|CCDS59952" Q9BRK3 14603461 MGI:1922011 RGD:1359356 617293 HGNC:7542 "ENST00000309212.11|NM_032348.4" HGNC:7544 MYADM myeloid associated differentiation marker protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MARVEL domain containing 1626 1998-09-22 2016-06-22 2023-01-20 91663 ENSG00000179820 OTTHUMG00000060775 uc002qcl.4 AF087882 NM_138373 CCDS12866 Q96S97 "10733104|12075932" MGI:1355332 RGD:727835 609959 HGNC:7544 "ENST00000391770.9|NM_138373.5" HGNC:40384 MYADM-AS1 MYADM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 Antisense RNAs 1987 2019-08-16 2019-08-16 105372457 ENSG00000228323 OTTHUMG00000060780 NR_184033 HGNC:40384 HGNC:40385 MYADM-AS2 MYADM antisense RNA 2 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 VEAL2 vascular endothelial-associated lncRNA 2 Antisense RNAs 1987 2023-03-02 2023-03-02 129810493 ENSG00000232220 OTTHUMG00000060830 34180064 HGNC:31019 MYADML myeloid associated differentiation marker like (pseudogene) pseudogene pseudogene Approved 2p22.3 02p22.3 myeloid-associated differentiation marker-like MARVEL domain containing 1626 2004-01-19 2016-06-22 2023-03-15 151325 ENSG00000239649 OTTHUMG00000099399 NR_003143 PGOHUM00000297831 HGNC:31019 HGNC:34548 MYADML2 myeloid associated differentiation marker like 2 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 LOC255275 MARVEL domain containing 1626 2008-10-15 2016-06-22 2023-01-20 255275 ENSG00000185105 OTTHUMG00000154388 uc010wvf.1 "AC137723|BC029306" XR_041347 CCDS45815 A6NDP7 MGI:1915765 RGD:1311499 HGNC:34548 "ENST00000409745.2|NM_001145113.3" -HGNC:7545 MYB MYB proto-oncogene, transcription factor protein-coding gene gene with protein product Approved 6q23.3 06q23.3 c-myb v-myb avian myeloblastosis viral oncogene homolog Myb/SANT domain containing 532 2001-06-22 2016-03-01 2023-01-20 4602 ENSG00000118513 OTTHUMG00000015629 uc063rpp.1 NM_001130172 "CCDS47482|CCDS47481|CCDS55061|CCDS5174|CCDS55059|CCDS55060|CCDS55062|CCDS55058" P10242 17599807 MGI:97249 RGD:1560020 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MYB MYB 189990 263765 HGNC:7545 "ENST00000341911.10|NM_001130173.2" +HGNC:7545 MYB MYB proto-oncogene, transcription factor protein-coding gene gene with protein product Approved 6q23.3 06q23.3 c-myb v-myb avian myeloblastosis viral oncogene homolog Myb/SANT domain containing 532 2001-06-22 2016-03-01 2023-01-20 4602 ENSG00000118513 OTTHUMG00000015629 uc063rpp.1 NM_001130172 "CCDS55058|CCDS47481|CCDS55061|CCDS55062|CCDS5174|CCDS55060|CCDS47482|CCDS55059" P10242 17599807 MGI:97249 RGD:1560020 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MYB MYB 189990 263765 HGNC:7545 "ENST00000341911.10|NM_001130173.2" HGNC:37457 MYB-AS1 MYB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22-q23 06q22-q23 "RP1-32B1.3|NCRNA00209" non-protein coding RNA 209 "MYBAS|MYB-AS" "MYB antisense RNA (non-protein coding)|MYB antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-10-15 2010-11-25 2012-08-15 2012-10-12 100873904 ENSG00000236703 OTTHUMG00000015627 uc063rqo.1 MYB-AS1 HGNC:7546 MYBBP1A MYB binding protein 1a protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "P160|PAP2|FLJ37886|Pol5" p53-activated protein-2 MYB binding protein (P160) 1a "Armadillo like helical domain containing|B-WICH chromatin-remodelling complex subunits" "1492|1787" 1999-06-25 2016-03-31 2023-01-20 10514 ENSG00000132382 OTTHUMG00000090747 uc002fyb.5 AF147709 NM_014520 "CCDS42238|CCDS11046" Q9BQG0 10644447 MGI:106181 RGD:62062 604885 HGNC:7546 "ENST00000254718.9|NM_014520.4" -HGNC:7547 MYBL1 MYB proto-oncogene like 1 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "AMYB|A-myb" v-myb avian myeloblastosis viral oncogene homolog-like 1 Myb/SANT domain containing 532 1991-09-13 2016-03-01 2023-01-20 4603 ENSG00000185697 OTTHUMG00000164559 uc003xwj.4 X13294 NM_001080416 "CCDS55241|CCDS47867" P10243 MGI:99925 RGD:1306940 159405 HGNC:7547 "ENST00000522677.8|NM_001080416.4" +HGNC:7547 MYBL1 MYB proto-oncogene like 1 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "AMYB|A-myb" v-myb avian myeloblastosis viral oncogene homolog-like 1 Myb/SANT domain containing 532 1991-09-13 2016-03-01 2023-01-20 4603 ENSG00000185697 OTTHUMG00000164559 uc003xwj.4 X13294 NM_001080416 "CCDS47867|CCDS55241" P10243 MGI:99925 RGD:1306940 159405 HGNC:7547 "ENST00000522677.8|NM_001080416.4" HGNC:7548 MYBL2 MYB proto-oncogene like 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "BMYB|B-MYB" v-myb avian myeloblastosis viral oncogene homolog-like 2 Myb/SANT domain containing 532 1991-09-13 2016-03-01 2023-01-20 4605 ENSG00000101057 OTTHUMG00000033062 uc002xlb.3 NM_002466 "CCDS13322|CCDS63276" P10244 8812502 MGI:101785 RGD:1308474 601415 HGNC:7548 "ENST00000217026.5|NM_002466.4" -HGNC:7549 MYBPC1 myosin binding protein C1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 ssMyBP-C slow skeletal-type muscle myosin-binding-protein C myosin-binding protein C, slow-type "I-set domain containing|Myosin binding proteins" "593|658" 1993-12-15 2019-10-02 2023-01-20 4604 ENSG00000196091 OTTHUMG00000170274 uc001tih.4 NM_001254718 "CCDS9083|CCDS58268|CCDS58269|CCDS58270|CCDS58271|CCDS58272|CCDS58273|CCDS55877|CCDS9085|CCDS9084" Q00872 "8375400|16918501" MGI:1336213 RGD:735102 160794 227077 HGNC:7549 "ENST00000361466.7|NM_002465.4" HGNC:7549 +HGNC:7549 MYBPC1 myosin binding protein C1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 ssMyBP-C slow skeletal-type muscle myosin-binding-protein C myosin-binding protein C, slow-type "I-set domain containing|Myosin binding proteins" "593|658" 1993-12-15 2019-10-02 2023-01-20 4604 ENSG00000196091 OTTHUMG00000170274 uc001tih.4 NM_001254718 "CCDS9085|CCDS58272|CCDS9084|CCDS58271|CCDS58270|CCDS55877|CCDS58268|CCDS58273|CCDS9083|CCDS58269" Q00872 "8375400|16918501" MGI:1336213 RGD:735102 160794 227077 HGNC:7549 "ENST00000361466.7|NM_002465.4" HGNC:7549 HGNC:7550 MYBPC2 myosin binding protein C2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MYBPCF|MGC163408|fsMyBP-C" "fast-type muscle myosin-binding-protein C|fast skeletal-type muscle myosin-binding-protein C" myosin-binding protein C, fast-type "I-set domain containing|Myosin binding proteins" "593|658" 1993-12-15 2019-10-02 2023-01-20 4606 ENSG00000086967 OTTHUMG00000183040 uc002psf.3 NM_004533 CCDS46152 Q14324 8375400 MGI:1336170 RGD:1311596 160793 HGNC:7550 "ENST00000357701.6|NM_004533.4" HGNC:7551 MYBPC3 myosin binding protein C3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FHC|cMyBP-C" CMH4 myosin-binding protein C, cardiac "I-set domain containing|Myosin binding proteins" "593|658" 1995-05-30 2019-10-02 2023-01-20 4607 ENSG00000134571 OTTHUMG00000166986 uc058bdz.1 X84075 NM_000256 CCDS53621 Q14896 "7744002|8358441" MGI:102844 RGD:1305950 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_386|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_386.xml" 600958 123595 objectId:2880 HGNC:7551 "ENST00000545968.6|NM_000256.3" HGNC:7551 HGNC:7552 MYBPH myosin binding protein H protein-coding gene gene with protein product Approved 1q32.1 01q32.1 myosin-binding protein H "I-set domain containing|Myosin binding proteins" "593|658" 1993-06-18 2001-11-28 2023-01-20 4608 ENSG00000133055 OTTHUMG00000042121 uc001gzh.2 BC044226 NM_004997 CCDS30975 Q13203 8486381 MGI:1858196 RGD:620287 160795 HGNC:7552 "ENST00000255416.9|NM_004997.3" @@ -21887,11 +21889,11 @@ HGNC:40386 MYCL-AS1 MYCL antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:7556 MYCLP1 MYCL pseudogene 1 pseudogene pseudogene Approved Xq22.3 Xq22.3 "MYCL2|MYCL1P1" "v-myc avian myelocytomatosis viral oncogene homolog 2|v-myc avian myelocytomatosis viral oncogene homolog 1 pseudogene 1" 1989-05-29 2013-07-09 2013-07-09 2014-11-19 4611 ENSG00000204053 OTTHUMG00000022162 NG_009866 P12525 MGI:96799 310310 PGOHUM00000250084 HGNC:7556 HGNC:48924 MYCLP2 MYCL pseudogene 2 pseudogene pseudogene Approved Xp11.21 Xp11.21 2013-07-09 2013-07-09 645136 ENSG00000228004 OTTHUMG00000021689 NG_021343 PGOHUM00000241346 HGNC:48924 HGNC:7557 MYCLP3 MYCL pseudogene 3 pseudogene pseudogene Approved Xq27.3 Xq27.3 MYCL3 v-myc avian myelocytomatosis viral oncogene homolog 3 (pseudogene) 1999-05-17 2013-07-09 2013-07-09 2013-07-09 9964 Y16968 NG_001222 10100857 HGNC:7557 -HGNC:7559 MYCN MYCN proto-oncogene, bHLH transcription factor protein-coding gene gene with protein product Approved 2p24.3 02p24.3 "bHLHe37|N-myc|MYCNOT" NMYC v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog Basic helix-loop-helix proteins 420 2001-06-22 2017-02-27 2023-01-20 4613 ENSG00000134323 OTTHUMG00000039579 uc002rci.4 BC002712 NM_005378 "CCDS1687|CCDS86823" P04198 20153925 MGI:97357 RGD:1584995 MYCN 164840 123600 HGNC:7559 "ENST00000281043.4|NM_005378.6" HGNC:7559 +HGNC:7559 MYCN MYCN proto-oncogene, bHLH transcription factor protein-coding gene gene with protein product Approved 2p24.3 02p24.3 "bHLHe37|N-myc|MYCNOT" NMYC v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog Basic helix-loop-helix proteins 420 2001-06-22 2017-02-27 2023-01-20 4613 ENSG00000134323 OTTHUMG00000039579 uc002rci.4 BC002712 NM_005378 "CCDS86823|CCDS1687" P04198 20153925 MGI:97357 RGD:1584995 MYCN 164840 123600 HGNC:7559 "ENST00000281043.4|NM_005378.6" HGNC:7559 HGNC:16911 MYCNOS MYCN opposite strand other unknown Approved 2p24.3 02p24.3 "NCYM|N-CYM|MYCN-AS1" "MYCN antisense RNA 1|DNA binding transcriptional activator" "v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) opposite strand|MYCN opposite strand/antisense RNA (non-protein coding)|MYCN opposite strand/antisense RNA" 2004-02-04 2011-08-30 2014-01-07 2021-03-03 10408 ENSG00000233718 OTTHUMG00000151741 uc061gvl.1 S49953 NR_110230 P40205 "1419902|24391509|26156430" 605374 MYCNOS HGNC:16911 HGNC:32684 MYCNUT MYCN upstream transcript non-coding RNA RNA, long non-coding Approved 2p24.3 02p24.3 lncUSMycN MYCNUN "MYCN upstream neighbor|MYCN upstream transcript (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-08-14 2014-06-09 2018-05-16 2018-07-26 103752554 ENSG00000223850 OTTHUMG00000039578 W87755 NR_125783 "24906397|27748806" 615968 lncusmycn MYCNUT HGNC:32684 HGNC:23172 MYCT1 MYC target 1 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "MTLC|FLJ21269" 2003-10-15 2017-02-27 2023-01-20 80177 ENSG00000120279 OTTHUMG00000015850 uc003qpc.5 AF527367 NM_025107 CCDS5239 Q8N699 26710964 MGI:1915882 RGD:1311467 616805 HGNC:23172 "ENST00000367245.6|NM_025107.3" -HGNC:7562 MYD88 MYD88 innate immune signal transduction adaptor protein-coding gene gene with protein product Approved 3p22.2 03p22.2 TLR adaptor MYD88 "myeloid differentiation primary response gene (88)|myeloid differentiation primary response 88" "TIR domain containing|My-T-BRC complex" "1296|1632" 1997-12-23 2019-01-22 2023-01-20 4615 ENSG00000172936 OTTHUMG00000131083 uc011ayi.3 U84408 NM_002468 "CCDS54566|CCDS93244|CCDS54565|CCDS54567|CCDS2674|CCDS54568" Q99836 9013863 MGI:108005 RGD:735043 LRG_157|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_157.xml MYD88 602170 201114 HGNC:7562 "ENST00000650905.2|NM_002468.5" HGNC:7562 +HGNC:7562 MYD88 MYD88 innate immune signal transduction adaptor protein-coding gene gene with protein product Approved 3p22.2 03p22.2 TLR adaptor MYD88 "myeloid differentiation primary response gene (88)|myeloid differentiation primary response 88" "TIR domain containing|My-T-BRC complex" "1296|1632" 1997-12-23 2019-01-22 2023-01-20 4615 ENSG00000172936 OTTHUMG00000131083 uc011ayi.3 U84408 NM_002468 "CCDS54567|CCDS54565|CCDS54566|CCDS93244|CCDS2674|CCDS54568" Q99836 9013863 MGI:108005 RGD:735043 LRG_157|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_157.xml MYD88 602170 201114 HGNC:7562 "ENST00000650905.2|NM_002468.5" HGNC:7562 HGNC:16948 MYDGF myeloid derived growth factor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "R33729_1|IL25|SF20|IL-25|IL-27" "IL27|IL27w|C19orf10" "interleukin 27 working designation|chromosome 19 open reading frame 10" 2002-04-03 2015-01-14 2016-06-01 2023-01-20 56005 ENSG00000074842 OTTHUMG00000182039 AF282264 NM_019107 CCDS12133 Q969H8 "17362502|21128247|25581518" MGI:2156020 RGD:1589603 606746 HGNC:16948 "ENST00000262947.8|NM_019107.4" HGNC:17940 MYEF2 myelin expression factor 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "MEF-2|FLJ11213|KIAA1341|HsT18564" RNA binding motif containing 725 2003-03-20 2023-01-20 50804 ENSG00000104177 OTTHUMG00000172120 uc001zwi.5 AB037762 NM_016132 "CCDS73722|CCDS32230" Q9P2K5 "10718198|2601707" MGI:104592 RGD:1306547 619395 HGNC:17940 "ENST00000324324.12|NM_016132.5" HGNC:7563 MYEOV myeloma overexpressed protein-coding gene gene with protein product Approved 11q13.3 11q13.3 OCIM myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) 1999-12-02 2013-03-27 2023-01-20 26579 ENSG00000172927 OTTHUMG00000167836 uc001oov.3 AJ223366 NM_001293291 "CCDS8190|CCDS73340" Q96EZ4 10753852 605625 HGNC:7563 "ENST00000441339.3|NM_001293291.2" @@ -21910,21 +21912,21 @@ HGNC:15906 MYH7B myosin heavy chain 7B protein-coding gene gene with protein pro HGNC:7578 MYH8 myosin heavy chain 8 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MyHC-peri|MyHC-pn" myosin, heavy polypeptide 8, skeletal muscle, perinatal Myosin heavy chains, class II 1098 1990-03-12 2016-06-22 2023-01-20 4626 ENSG00000133020 OTTHUMG00000130361 uc002gmm.3 NM_002472 CCDS11153 P13535 2373371 MGI:1339712 RGD:620356 160741 123626 HGNC:7578 "ENST00000403437.2|NM_002472.3" HGNC:7578 HGNC:7579 MYH9 myosin heavy chain 9 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "NMMHCA|NMHC-II-A|MHA|FTNS|EPSTS" nonmuscle myosin heavy chain II-A DFNA17 myosin, heavy polypeptide 9, non-muscle "Myosin heavy chains, class II|MicroRNA protein coding host genes" "1098|1691" 1990-03-12 2016-06-22 2023-01-20 4627 ENSG00000100345 OTTHUMG00000030429 uc003apg.4 NM_002473 CCDS13927 P35579 "1860190|11023810" MGI:107717 RGD:3140 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_567|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_567.xml" MYH9 160775 123628 HGNC:7579 "ENST00000216181.11|NM_002473.6" HGNC:7579 HGNC:55867 MYH9-DT MYH9 divergent transcript non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Divergent transcripts 1990 2021-09-06 2021-09-06 105377199 ENSG00000223695 NR_183572 -HGNC:7568 MYH10 myosin heavy chain 10 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 NMMHCB myosin, heavy polypeptide 10, non-muscle Myosin heavy chains, class II 1098 1991-05-15 2016-06-22 2023-01-20 4628 ENSG00000133026 OTTHUMG00000108195 uc002gll.5 M69181 NM_001256012 "CCDS92256|CCDS11144|CCDS58515|CCDS73984" P35580 1860190 MGI:1930780 RGD:71000 160776 HGNC:7568 "ENST00000360416.8|NM_001256012.3" -HGNC:7569 MYH11 myosin heavy chain 11 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "SMMHC|SMHC|SMMS-1" myosin, heavy polypeptide 11, smooth muscle Myosin heavy chains, class II 1098 1991-09-13 2016-06-22 2023-01-20 4629 ENSG00000133392 OTTHUMG00000129935 uc002ddy.4 X69292 NM_001040113 "CCDS45423|CCDS45424|CCDS10565|CCDS10566" P35749 7684189 MGI:102643 RGD:3136 LRG_1401|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1401.xml MYH11 160745 123606 HGNC:7569 "ENST00000300036.6|NM_002474.3" HGNC:7569 +HGNC:7568 MYH10 myosin heavy chain 10 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 NMMHCB myosin, heavy polypeptide 10, non-muscle Myosin heavy chains, class II 1098 1991-05-15 2016-06-22 2023-01-20 4628 ENSG00000133026 OTTHUMG00000108195 uc002gll.5 M69181 NM_001256012 "CCDS73984|CCDS92256|CCDS58515|CCDS11144" P35580 1860190 MGI:1930780 RGD:71000 160776 HGNC:7568 "ENST00000360416.8|NM_001256012.3" +HGNC:7569 MYH11 myosin heavy chain 11 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "SMMHC|SMHC|SMMS-1" myosin, heavy polypeptide 11, smooth muscle Myosin heavy chains, class II 1098 1991-09-13 2016-06-22 2023-01-20 4629 ENSG00000133392 OTTHUMG00000129935 uc002ddy.4 X69292 NM_001040113 "CCDS45424|CCDS10566|CCDS45423|CCDS10565" P35749 7684189 MGI:102643 RGD:3136 LRG_1401|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1401.xml MYH11 160745 123606 HGNC:7569 "ENST00000300036.6|NM_002474.3" HGNC:7569 HGNC:7571 MYH13 myosin heavy chain 13 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 MyHC-eo "extraocular muscle myosin heavy chain|extraocular myosin heavy chain" myosin, heavy polypeptide 13, skeletal muscle Myosin heavy chains, class II 1098 1998-12-09 2016-06-22 2023-01-20 8735 ENSG00000006788 OTTHUMG00000177987 uc060bfq.1 AF075248 NM_003802 CCDS45613 Q9UKX3 9806854 MGI:1339967 RGD:3137 603487 HGNC:7571 "ENST00000252172.9|NM_003802.3" -HGNC:23212 MYH14 myosin heavy chain 14 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ13881|KIAA2034|MHC16|MYH17" DFNA4 "myosin, heavy polypeptide 14|myosin, heavy chain 14, non-muscle" Myosin heavy chains, class II 1098 2003-10-15 2016-06-22 2023-01-20 79784 ENSG00000105357 OTTHUMG00000183034 uc010enu.2 AY165122 NM_024729 "CCDS46151|CCDS54295|CCDS59411" Q7Z406 "12909352|15015131|17940200" MGI:1919210 RGD:1306821 608568 123610 HGNC:23212 "ENST00000642316.2|NM_001145809.2" HGNC:23212 +HGNC:23212 MYH14 myosin heavy chain 14 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ13881|KIAA2034|MHC16|MYH17" DFNA4 "myosin, heavy polypeptide 14|myosin, heavy chain 14, non-muscle" Myosin heavy chains, class II 1098 2003-10-15 2016-06-22 2023-01-20 79784 ENSG00000105357 OTTHUMG00000183034 uc010enu.2 AY165122 NM_024729 "CCDS46151|CCDS59411|CCDS54295" Q7Z406 "12909352|15015131|17940200" MGI:1919210 RGD:1306821 608568 123610 HGNC:23212 "ENST00000642316.2|NM_001145809.2" HGNC:23212 HGNC:31073 MYH15 myosin heavy chain 15 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 KIAA1000 myosin, heavy polypeptide 15 Myosin heavy chains, class II 1098 2004-07-28 2016-06-22 2023-01-20 22989 ENSG00000144821 OTTHUMG00000159226 uc003dxa.1 AB023217 NM_014981 CCDS43127 Q9Y2K3 "15014174|15042088" MGI:3643515 RGD:1565858 609929 HGNC:31073 "ENST00000693548.1|NM_014981.3" HGNC:31038 MYH16 myosin heavy chain 16 pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 "MHC20|MYH16P" sarcomeric myosin MYH5 "myosin, heavy polypeptide 5|myosin, heavy polypeptide 16|myosin, heavy chain 16" Myosin heavy chains, class II 1098 2004-01-23 2016-06-22 2019-12-17 84176 ENSG00000002079 OTTHUMG00000154426 BK001410 NR_002147 Q9H6N6 "11919279|15014174" 608580 PGOHUM00000263185 HGNC:31038 HGNC:50609 MYHAS myosin heavy chain gene cluster antisense RNA non-coding RNA RNA, long non-coding Approved 17p13.1 17p13.1 linc-MYH Long non-coding RNAs with non-systematic symbols 1992 2014-05-21 2014-05-27 2020-11-18 100128560 ENSG00000272975 OTTHUMG00000186260 AK097500 NR_125367 "32152230|32960481" MYHAS HGNC:50609 -HGNC:7582 MYL1 myosin light chain 1 protein-coding gene gene with protein product Approved 2q34 02q34 "MLC1|MLC1F|MLC3F|MLC-1|MLC1/3" Myosin light chain 1/3, skeletal muscle isoform "myosin, light polypeptide 1, alkali; skeletal, fast|myosin, light chain 1, alkali; skeletal, fast" Myosin light chains, class 1 2039 1986-01-01 2015-11-13 2023-01-20 4632 ENSG00000168530 OTTHUMG00000132992 uc002veb.4 NM_079420 "CCDS2391|CCDS2390" P05976 "2304459|3422212|30215711" MGI:97269 RGD:1598796 160780 HGNC:7582 "ENST00000352451.4|NM_079420.3" HGNC:7582 +HGNC:7582 MYL1 myosin light chain 1 protein-coding gene gene with protein product Approved 2q34 02q34 "MLC1|MLC1F|MLC3F|MLC-1|MLC1/3" Myosin light chain 1/3, skeletal muscle isoform "myosin, light polypeptide 1, alkali; skeletal, fast|myosin, light chain 1, alkali; skeletal, fast" Myosin light chains, class 1 2039 1986-01-01 2015-11-13 2023-01-20 4632 ENSG00000168530 OTTHUMG00000132992 uc002veb.4 NM_079420 "CCDS2390|CCDS2391" P05976 "2304459|3422212|30215711" MGI:97269 RGD:1598796 160780 HGNC:7582 "ENST00000352451.4|NM_079420.3" HGNC:7582 HGNC:7583 MYL2 myosin light chain 2 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 CMH10 cardiac ventricular myosin light chain 2 "myosin, light polypeptide 2, regulatory, cardiac, slow|myosin, light chain 2, regulatory, cardiac, slow" Myosin light chains, class 2 2040 1991-11-21 2015-11-13 2023-01-20 4633 ENSG00000111245 OTTHUMG00000169535 uc001try.5 NM_000432 CCDS31901 P10916 1386340 MGI:97272 RGD:1564245 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_393|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_393.xml" 160781 123631 HGNC:7583 "ENST00000228841.15|NM_000432.4" HGNC:7583 HGNC:7584 MYL3 myosin light chain 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CMH8|VLC1|MLC1V|MLC1SB" "myosin, light polypeptide 3, alkali; ventricular, skeletal, slow|myosin, light chain 3, alkali; ventricular, skeletal, slow" Myosin light chains, class 1 2039 1986-01-01 2015-11-13 2023-01-20 4634 ENSG00000160808 OTTHUMG00000133516 uc003cql.2 NM_000258 CCDS2746 P08590 "1479618|2784124" MGI:97268 RGD:3142 LRG_395|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_395.xml 160790 123634 HGNC:7584 "ENST00000292327.6|NM_000258.3" HGNC:7584 HGNC:7585 MYL4 myosin light chain 4 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "ALC1|AMLC|GT1|PRO1957" "myosin, atrial/fetal muscle, light chain|atrial myosin light chain 1" "myosin, light polypeptide 4, alkali; atrial, embryonic|myosin, light chain 4, alkali; atrial, embryonic" Myosin light chains, class 1 2039 1986-01-01 2015-11-13 2023-01-20 4635 ENSG00000198336 OTTHUMG00000178232 uc060gng.1 NM_001002841 CCDS11510 P12829 3417683 MGI:97267 RGD:1591197 160770 477581 HGNC:7585 "ENST00000393450.5|NM_002476.2" HGNC:7585 HGNC:7586 MYL5 myosin light chain 5 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "myosin, light polypeptide 5, regulatory|myosin, light chain 5, regulatory" Myosin light chains, class 2 2040 1992-07-20 2015-11-13 2023-01-20 4636 ENSG00000215375 OTTHUMG00000159971 uc003gav.4 NM_002477 "CCDS87196|CCDS43197" Q02045 1284596 160782 HGNC:7586 "ENST00000400159.7|NM_002477.2" -HGNC:7587 MYL6 myosin light chain 6 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "ESMLC|MLC3NM|MLC1SM" "myosin, light polypeptide 6, alkali, smooth muscle and non-muscle|myosin, light chain 6, alkali, smooth muscle and non-muscle" Myosin light chains, class 1 2039 1994-07-21 2015-11-13 2023-01-20 4637 ENSG00000092841 OTTHUMG00000170200 uc001sjw.3 AB046613 NM_021019 "CCDS31834|CCDS8906" P60660 "8188229|2304459|2722814" MGI:109318 RGD:1589019 609931 HGNC:7587 "ENST00000550697.6|NM_021019.5" +HGNC:7587 MYL6 myosin light chain 6 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "ESMLC|MLC3NM|MLC1SM" "myosin, light polypeptide 6, alkali, smooth muscle and non-muscle|myosin, light chain 6, alkali, smooth muscle and non-muscle" Myosin light chains, class 1 2039 1994-07-21 2015-11-13 2023-01-20 4637 ENSG00000092841 OTTHUMG00000170200 uc001sjw.3 AB046613 NM_021019 "CCDS8906|CCDS31834" P60660 "8188229|2304459|2722814" MGI:109318 RGD:1589019 609931 HGNC:7587 "ENST00000550697.6|NM_021019.5" HGNC:29823 MYL6B myosin light chain 6B protein-coding gene gene with protein product Approved 12q13.2 12q13.2 MLC1SA myosin light chain 1 slow a "myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle|myosin, light chain 6B, alkali, smooth muscle and non-muscle" Myosin light chains, class 1 2039 2006-03-13 2015-11-13 2023-01-20 140465 ENSG00000196465 OTTHUMG00000170199 uc058pii.1 M31211 NM_002475 CCDS8905 P14649 "2602161|2304459" MGI:1917789 RGD:1560334 609930 HGNC:29823 "ENST00000695999.1|NM_002475.5" -HGNC:55472 MYL6B-AS1 MYL6B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.2 12q13.2 Antisense RNAs 1987 2021-03-10 2021-03-10 120766150 ENSG00000257809 +HGNC:55472 MYL6B-AS1 MYL6B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.2 12q13.2 Antisense RNAs 1987 2021-03-10 2021-03-10 120766150 ENSG00000257809 NR_186043 HGNC:51647 MYL6BP1 MYL6B pseudogene 1 pseudogene pseudogene Approved 2q34 02q34 myosin, light chain 6B pseudogene 1 2015-04-21 2020-11-24 2020-11-24 100422437 ENSG00000228380 OTTHUMG00000154704 NG_023319 PGOHUM00000298308 HGNC:51647 HGNC:7588 MYL6P1 MYL6 pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 MYL6P myosin, light polypeptide 6, pseudogene 2000-05-23 2010-02-26 2020-11-24 2020-11-24 54043 ENSG00000226543 OTTHUMG00000086885 NG_000917 PGOHUM00000297271 HGNC:7588 HGNC:23772 MYL6P2 MYL6 pseudogene 2 pseudogene pseudogene Approved 21q22.2 21q22.2 myosin, light chain 6 pseudogene 2 2010-02-26 2020-11-24 2020-11-24 100431168 ENSG00000235808 OTTHUMG00000086714 AF121781 NG_021232 PGOHUM00000297384 HGNC:23772 @@ -21932,22 +21934,22 @@ HGNC:37812 MYL6P3 MYL6 pseudogene 3 pseudogene pseudogene Approved 10q21.3 10q21 HGNC:37813 MYL6P4 MYL6 pseudogene 4 pseudogene pseudogene Approved 7q34 07q34 myosin, light chain 6 pseudogene 4 2010-02-26 2020-11-24 2020-11-24 642627 ENSG00000240677 OTTHUMG00000157638 NG_009428 PGOHUM00000302967 HGNC:37813 HGNC:51646 MYL6P5 MYL6 pseudogene 5 pseudogene pseudogene Approved 17q24.3 17q24.3 myosin, light chain 6 pseudogene 5 2015-04-21 2020-11-24 2020-11-24 124685 ENSG00000228118 OTTHUMG00000132241 NG_030302 PGOHUM00000294544 HGNC:51646 HGNC:21719 MYL7 myosin light chain 7 protein-coding gene gene with protein product Approved 7p13 07p13 "MYLC2A|MYL2A" "myosin, light polypeptide 7, regulatory|myosin, light chain 7, regulatory" Myosin light chains, class 2 2040 2003-10-14 2015-11-13 2023-01-20 58498 ENSG00000106631 OTTHUMG00000023125 uc003tkg.4 M94547 NM_021223 CCDS5478 Q01449 8207020 MGI:107495 RGD:1308262 613993 HGNC:21719 "ENST00000223364.7|NM_021223.3" -HGNC:15754 MYL9 myosin light chain 9 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "MYRL2|MLC2|LC20|MRLC1" "myosin regulatory light chain 2, smooth muscle isoform|myosin regulatory light chain 1" "myosin, light polypeptide 9, regulatory|myosin, light chain 9, regulatory" Myosin light chains, class 2 2040 2001-09-17 2015-11-13 2023-01-20 10398 ENSG00000101335 OTTHUMG00000032387 uc002xfl.3 J02854 NM_006097 "CCDS13276|CCDS13277" P24844 2526655 MGI:2138915 RGD:1311235 609905 HGNC:15754 "ENST00000279022.7|NM_006097.5" +HGNC:15754 MYL9 myosin light chain 9 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "MYRL2|MLC2|LC20|MRLC1" "myosin regulatory light chain 2, smooth muscle isoform|myosin regulatory light chain 1" "myosin, light polypeptide 9, regulatory|myosin, light chain 9, regulatory" Myosin light chains, class 2 2040 2001-09-17 2015-11-13 2023-01-20 10398 ENSG00000101335 OTTHUMG00000032387 uc002xfl.3 J02854 NM_006097 "CCDS13277|CCDS13276" P24844 2526655 MGI:2138915 RGD:1311235 609905 HGNC:15754 "ENST00000279022.7|NM_006097.5" HGNC:29825 MYL10 myosin light chain 10 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC3479|MYLC2PL|PLRLC" myosin, light chain 10, regulatory Myosin light chains, class 2 2040 2009-03-06 2015-11-13 2023-01-20 93408 ENSG00000106436 OTTHUMG00000157137 uc003uyr.3 BC002778 NM_138403 CCDS34713 Q9BUA6 1628631 MGI:1891705 RGD:1561258 617177 HGNC:29825 "ENST00000223167.5|NM_138403.5" HGNC:29824 MYL11 myosin light chain 11 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "MRLC2|HUMMLC2B" "myosin, light chain 11, regulatory|myosin regulatory light chain 2" MYLPF myosin light chain, phosphorylatable, fast skeletal muscle Myosin light chains, class 2 2040 2009-03-06 2022-03-30 2022-03-30 2023-01-20 29895 ENSG00000180209 OTTHUMG00000132399 uc002dxv.2 AF363061 NM_013292 CCDS10677 Q96A32 6179945 MGI:97273 RGD:3141 617378 HGNC:29824 "ENST00000322861.12|NM_013292.5" HGNC:29824 HGNC:55331 MYL12-AS1 MYL12A and MYL12B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Antisense RNAs 1987 2020-10-21 2020-10-21 104968399 ENSG00000264235 NR_130143 -HGNC:16701 MYL12A myosin light chain 12A protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "MLCB|MYL2B|MRLC3|MRCL3" myosin regulatory light chain 3 "myosin, light polypeptide, regulatory, non-sarcomeric (20kD)|myosin, light chain 12A, regulatory, non-sarcomeric" Myosin light chains, class 2 2040 2009-03-06 2015-11-13 2023-01-20 10627 ENSG00000101608 OTTHUMG00000131509 uc060mxh.1 X54304 NM_006471 "CCDS77145|CCDS11830" P19105 2216787 MGI:1914518 RGD:1309537 HGNC:16701 "ENST00000217652.8|NM_006471.4" +HGNC:16701 MYL12A myosin light chain 12A protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "MLCB|MYL2B|MRLC3|MRCL3" myosin regulatory light chain 3 "myosin, light polypeptide, regulatory, non-sarcomeric (20kD)|myosin, light chain 12A, regulatory, non-sarcomeric" Myosin light chains, class 2 2040 2009-03-06 2015-11-13 2023-01-20 10627 ENSG00000101608 OTTHUMG00000131509 uc060mxh.1 X54304 NM_006471 "CCDS11830|CCDS77145" P19105 2216787 MGI:1914518 RGD:1309537 HGNC:16701 "ENST00000217652.8|NM_006471.4" HGNC:51648 MYL12AP1 MYL12A pseudogene 1 pseudogene pseudogene Approved 8q22.1 08q22.1 myosin, light chain 12A pseudogene 1 2015-04-21 2020-11-24 2020-11-24 157667 ENSG00000254387 OTTHUMG00000164355 NG_022427 PGOHUM00000303626 HGNC:51648 HGNC:29827 MYL12B myosin light chain 12B protein-coding gene gene with protein product Approved 18p11.31 18p11.31 MRLC2 myosin regulatory light chain 2 myosin, light chain 12B, regulatory Myosin light chains, class 2 2040 2009-03-06 2015-11-13 2023-01-20 103910 ENSG00000118680 OTTHUMG00000131510 uc002klt.5 AY320408 NM_033546 CCDS11831 O14950 11942626 MGI:107494 RGD:628855 609211 HGNC:29827 "ENST00000237500.10|NM_033546.4" HGNC:51649 MYL12BP1 MYL12B pseudogene 1 pseudogene pseudogene Approved 15q15.2 15q15.2 myosin, light chain 12B pseudogene 1 2015-04-21 2020-11-24 2020-11-24 645094 ENSG00000260490 OTTHUMG00000175798 NG_022126 PGOHUM00000293222 HGNC:51649 HGNC:51650 MYL12BP2 MYL12B pseudogene 2 pseudogene pseudogene Approved 4q35.1 04q35.1 myosin, light chain 12B pseudogene 2 2015-04-21 2020-11-24 2020-11-24 391722 ENSG00000227765 OTTHUMG00000160610 XM_047416561 PGOHUM00000300087 HGNC:51650 HGNC:7589 MYL12BP3 MYL12B pseudogene 3 pseudogene pseudogene Approved 6p21.32 06p21.32 BING3 MYL8P "myosin, light polypeptide 8, pseudogene|myosin, light chain 8, pseudogene|myosin light chain 8, pseudogene" 2000-07-19 2020-12-08 2020-12-08 2020-12-08 442204 ENSG00000229596 OTTHUMG00000031181 NG_005310 9545376 PGOHUM00000301765 HGNC:7589 HGNC:21155 MYLIP myosin regulatory light chain interacting protein protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "MIR|IDOL" E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor "Ring finger proteins|FERM domain containing|MicroRNA protein coding host genes" "58|1293|1691" 2003-11-26 2023-01-20 29116 ENSG00000007944 OTTHUMG00000016405 uc003nbq.4 AF187016 NM_013262 CCDS4536 Q8WY64 "10593918|11162443|19688294" MGI:2388271 RGD:1305761 610082 421436 HGNC:21155 "ENST00000356840.8|NM_013262.4" -HGNC:7590 MYLK myosin light chain kinase protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "MLCK|smMLCK|MYLK1|MLCK1|KRP|Telokin|MLCK108|MLCK210|MYLK-L" "smooth muscle myosin light chain kinase|kinase related protein" myosin, light polypeptide kinase "Fibronectin type III domain containing|I-set domain containing|Myosin light chain kinase family" "555|593|1668" 1995-07-14 2008-01-23 2023-03-15 4638 ENSG00000065534 OTTHUMG00000141304 uc062ncr.1 X85337 NM_053025 "CCDS58849|CCDS43141|CCDS93356|CCDS3023|CCDS46897|CCDS46896" Q15746 "8575746|10036190" MGI:894806 RGD:1310915 600922 246653 objectId:1552 2.7.11.18 HGNC:7590 "ENST00000360304.8|NM_053025.4" HGNC:7590 +HGNC:7590 MYLK myosin light chain kinase protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "MLCK|smMLCK|MYLK1|MLCK1|KRP|Telokin|MLCK108|MLCK210|MYLK-L" "smooth muscle myosin light chain kinase|kinase related protein" myosin, light polypeptide kinase "Fibronectin type III domain containing|I-set domain containing|Myosin light chain kinase family" "555|593|1668" 1995-07-14 2008-01-23 2023-03-15 4638 ENSG00000065534 OTTHUMG00000141304 uc062ncr.1 X85337 NM_053025 "CCDS43141|CCDS93356|CCDS58849|CCDS46897|CCDS3023|CCDS46896" Q15746 "8575746|10036190" MGI:894806 RGD:1310915 600922 246653 objectId:1552 2.7.11.18 HGNC:7590 "ENST00000360304.8|NM_053025.4" HGNC:7590 HGNC:42440 MYLK-AS1 MYLK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.1 03q21.1 MYLK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2015-11-13 100506826 ENSG00000239523 OTTHUMG00000159536 uc062ncm.1 NR_038266 MYLK-AS1 HGNC:42440 HGNC:40387 MYLK-AS2 MYLK antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q21.1 03q21.1 MYLK antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2021-04-07 100873940 ENSG00000250174 OTTHUMG00000159965 uc062ndc.1 NR_046629 MYLK-AS2 HGNC:40387 HGNC:16243 MYLK2 myosin light chain kinase 2 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "skMLCK|KMLC|MLCK2" skeletal muscle myosin light chain kinase myosin light chain kinase 2, skeletal muscle Myosin light chain kinase family 1668 2001-07-31 2008-01-23 2023-01-20 85366 ENSG00000101306 OTTHUMG00000032194 uc061wct.1 AF325549 NM_033118 CCDS13191 Q9H1R3 "11733062|21284933" MGI:2139434 RGD:620934 LRG_392|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_392.xml 606566 123637 objectId:1553 2.7.11.18 HGNC:16243 "ENST00000375985.5|NM_033118.4" HGNC:16243 -HGNC:29826 MYLK3 myosin light chain kinase 3 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 "caMLCK|MLCK" MLC kinase Myosin light chain kinase family 1668 2008-01-23 2023-01-20 91807 ENSG00000140795 OTTHUMG00000132543 uc002eei.5 AJ247087 NM_182493 "CCDS76861|CCDS10723" Q32MK0 17885681 MGI:2443063 RGD:1305801 612147 objectId:2110 HGNC:29826 "ENST00000394809.9|NM_182493.3" +HGNC:29826 MYLK3 myosin light chain kinase 3 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 "caMLCK|MLCK" MLC kinase Myosin light chain kinase family 1668 2008-01-23 2023-01-20 91807 ENSG00000140795 OTTHUMG00000132543 uc002eei.5 AJ247087 NM_182493 "CCDS10723|CCDS76861" Q32MK0 17885681 MGI:2443063 RGD:1305801 612147 objectId:2110 HGNC:29826 "ENST00000394809.9|NM_182493.3" HGNC:27972 MYLK4 myosin light chain kinase family member 4 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 SgK085 caMLCK like myosin light chain kinase family, member 4 Myosin light chain kinase family 1668 2008-01-23 2015-11-13 2023-01-20 340156 ENSG00000145949 OTTHUMG00000014121 uc003mty.5 NM_001012418 "CCDS93849|CCDS34330" Q86YV6 MGI:3643758 RGD:6494757 objectId:2111 HGNC:27972 "ENST00000274643.9|NM_001012418.5" HGNC:7591 MYLKP1 myosin light chain kinase pseudogene 1 pseudogene pseudogene Approved 3p12.3 03p12.3 MYLKP MYLKP 1999-04-09 2010-02-26 2016-01-29 2017-12-06 9430 ENSG00000228868 OTTHUMG00000158822 AF042089 NG_009879 "10036190|21441351" PGOHUM00000250243 HGNC:7591 HGNC:56499 MYLKP2 MYLK pseudogene 2 pseudogene pseudogene Approved 3q21.2 03q21.2 2022-10-20 2022-10-20 100419969 ENSG00000242001 NG_025735 PGOHUM00000299561 @@ -21955,47 +21957,47 @@ HGNC:33778 MYMK myomaker, myoblast fusion factor protein-coding gene gene with p HGNC:52391 MYMX myomixer, myoblast fusion factor protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MINION "microprotein inducer of fusion|myomerger" 2017-05-11 2023-01-20 101929726 ENSG00000262179 OTTHUMG00000177883 NM_001315494 CCDS83093 A0A1B0GTQ4 "28386024|28569745|28569755" MGI:3649059 RGD:11426996 619912 HGNC:52391 "ENST00000573382.3|NM_001315494.2" HGNC:14955 MYNN myoneurin protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "SBBIZ1|ZBTB31|ZNF902" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2001-04-26 2023-01-20 55892 ENSG00000085274 OTTHUMG00000184027 uc003fft.4 AF148848 NM_018657 "CCDS54671|CCDS3207" Q9NPC7 10873615 MGI:1931415 RGD:1307889 606042 HGNC:14955 "ENST00000349841.10|NM_018657.5" HGNC:7595 MYO1A myosin IA protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "Unconventional myosin-Ia|Brush border myosin I" "MYHL|DFNA48|BBMI" Myosin heavy chains, class I 1097 1996-04-04 2023-01-20 4640 ENSG00000166866 OTTHUMG00000149899 uc001smw.5 L29137 NM_005379 CCDS8929 Q9UBC5 "8884266|12736868" MGI:107732 RGD:3135 601478 166803 HGNC:7595 "ENST00000300119.8|NM_005379.4" HGNC:7595 -HGNC:7596 MYO1B myosin IB protein-coding gene gene with protein product Approved 2q32.3 02q32.3 myr1 Myosin heavy chains, class I 1097 1996-04-04 2023-01-20 4430 ENSG00000128641 OTTHUMG00000132718 uc010fsg.3 L29138 NM_012223 "CCDS46477|CCDS2311|CCDS82546" O43795 "8022818|8449985" MGI:107752 RGD:70994 606537 HGNC:7596 "ENST00000392318.8|NM_001130158.3" -HGNC:55807 MYO1B-AS1 MYO1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 Antisense RNAs 1987 2021-07-29 2021-07-29 122152331 ENSG00000227542 -HGNC:7597 MYO1C myosin IC protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "myr2|NMI|MyoIC" Unconventional myosin-Ic "Myosin heavy chains, class I|B-WICH chromatin-remodelling complex subunits" "1097|1787" 1996-04-04 2023-01-20 4641 ENSG00000197879 OTTHUMG00000090323 uc002fso.4 X98507 NM_001080779 "CCDS42226|CCDS86556|CCDS11003|CCDS45562" O00159 9119401 MGI:106612 RGD:620443 606538 407527 HGNC:7597 "ENST00000648651.1|NM_001080779.2" HGNC:7597 -HGNC:7598 MYO1D myosin ID protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA0727|myr4|PPP1R108" protein phosphatase 1, regulatory subunit 108 "Protein phosphatase 1 regulatory subunits|Myosin heavy chains, class I" "694|1097" 1996-04-04 2023-01-20 4642 ENSG00000176658 OTTHUMG00000179636 uc002hho.2 AB018270 NM_001303279 "CCDS32615|CCDS92288|CCDS76991|CCDS76992" O94832 8884266 MGI:107728 RGD:621321 606539 HGNC:7598 "ENST00000318217.10|NM_015194.3" +HGNC:7596 MYO1B myosin IB protein-coding gene gene with protein product Approved 2q32.3 02q32.3 myr1 Myosin heavy chains, class I 1097 1996-04-04 2023-01-20 4430 ENSG00000128641 OTTHUMG00000132718 uc010fsg.3 L29138 NM_012223 "CCDS82546|CCDS46477|CCDS2311" O43795 "8022818|8449985" MGI:107752 RGD:70994 606537 HGNC:7596 "ENST00000392318.8|NM_001130158.3" +HGNC:55807 MYO1B-AS1 MYO1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 Antisense RNAs 1987 2021-07-29 2021-07-29 122152331 ENSG00000227542 NR_186085 +HGNC:7597 MYO1C myosin IC protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "myr2|NMI|MyoIC" Unconventional myosin-Ic "Myosin heavy chains, class I|B-WICH chromatin-remodelling complex subunits" "1097|1787" 1996-04-04 2023-01-20 4641 ENSG00000197879 OTTHUMG00000090323 uc002fso.4 X98507 NM_001080779 "CCDS86556|CCDS45562|CCDS11003|CCDS42226" O00159 9119401 MGI:106612 RGD:620443 606538 407527 HGNC:7597 "ENST00000648651.1|NM_001080779.2" HGNC:7597 +HGNC:7598 MYO1D myosin ID protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA0727|myr4|PPP1R108" protein phosphatase 1, regulatory subunit 108 "Protein phosphatase 1 regulatory subunits|Myosin heavy chains, class I" "694|1097" 1996-04-04 2023-01-20 4642 ENSG00000176658 OTTHUMG00000179636 uc002hho.2 AB018270 NM_001303279 "CCDS32615|CCDS92288|CCDS76992|CCDS76991" O94832 8884266 MGI:107728 RGD:621321 606539 HGNC:7598 "ENST00000318217.10|NM_015194.3" HGNC:55837 MYO1D-DT MYO1D divergent transcript non-coding RNA RNA, long non-coding Approved 17q11.2 17q11.2 lncCRLA lncRNA-related chemotherapy resistance in lung adenocarcinoma Divergent transcripts 1990 2021-08-02 2023-02-13 102724715 ENSG00000236377 NR_184086 33985619 HGNC:7599 MYO1E myosin IE protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "MYO1C|HuncM-IC|MGC104638" myosin-IC "Myosin heavy chains, class I|MicroRNA protein coding host genes" "1097|1691" 1996-04-04 2023-01-20 4643 ENSG00000157483 OTTHUMG00000171944 uc002aga.5 U14391 NM_004998 CCDS32254 Q12965 8884266 MGI:106621 RGD:3144 601479 270032 HGNC:7599 "ENST00000288235.9|NM_004998.4" HGNC:7599 HGNC:7600 MYO1F myosin IF protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Unconventional myosin-If Myosin heavy chains, class I 1097 1996-04-04 2023-01-20 4542 ENSG00000142347 OTTHUMG00000156005 uc002mkg.4 X98411 NM_001348355 CCDS42494 O00160 "9119401|8884266" MGI:107711 RGD:1309750 601480 470714 HGNC:7600 "ENST00000644032.2|NM_012335.4" HGNC:7600 HGNC:13880 MYO1G myosin IG protein-coding gene gene with protein product Approved 7p13 07p13 HA-2 minor histocompatibility antigen HA-2 "Minor histocompatibility antigens|Myosin heavy chains, class I" "870|1097" 2000-11-28 2023-01-20 64005 ENSG00000136286 OTTHUMG00000155821 uc003tmh.3 AF380932 NM_033054 CCDS34629 B0I1T2 MGI:1927091 RGD:1306016 600642 HGNC:13880 "ENST00000258787.12|NM_033054.3" HGNC:13879 MYO1H myosin IH protein-coding gene gene with protein product Approved 12q24.11 12q24.11 FLJ37587 Unconventional myosin-Ih Myosin heavy chains, class I 1097 2000-11-28 2023-03-15 283446 ENSG00000174527 OTTHUMG00000169252 uc010sxn.1 NM_173597 CCDS53826 Q8N1T3 12486594 MGI:1914674 RGD:1596237 614636 HGNC:13879 "ENST00000310903.10|NM_001101421.4" HGNC:13879 -HGNC:7601 MYO3A myosin IIIA protein-coding gene gene with protein product Approved 10p12.1 10p12.1 DFNB30 deafness, autosomal recessive 30 Myosin heavy chains, class III 1099 2000-05-16 2004-05-19 2023-01-20 53904 ENSG00000095777 OTTHUMG00000017837 uc001isn.3 AF229172 NM_017433 "CCDS7148|CCDS91223" Q8NEV4 "10936054|24214986" MGI:2183924 RGD:1560083 LRG_1354|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1354.xml 606808 160313 objectId:2112 HGNC:7601 "ENST00000642920.2|NM_017433.5" HGNC:7601 +HGNC:7601 MYO3A myosin IIIA protein-coding gene gene with protein product Approved 10p12.1 10p12.1 DFNB30 deafness, autosomal recessive 30 Myosin heavy chains, class III 1099 2000-05-16 2004-05-19 2023-01-20 53904 ENSG00000095777 OTTHUMG00000017837 uc001isn.3 AF229172 NM_017433 "CCDS91223|CCDS7148" Q8NEV4 "10936054|24214986" MGI:2183924 RGD:1560083 LRG_1354|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1354.xml 606808 160313 objectId:2112 HGNC:7601 "ENST00000642920.2|NM_017433.5" HGNC:7601 HGNC:15576 MYO3B myosin IIIB protein-coding gene gene with protein product Approved 2q31.1 02q31.1 Myosin heavy chains, class III 1099 2001-12-07 2023-03-15 140469 ENSG00000071909 OTTHUMG00000154002 uc002ufz.4 NM_001083615 "CCDS46446|CCDS42773" Q8WXR4 MGI:2448580 RGD:1560313 610040 objectId:2113 HGNC:15576 "ENST00000408978.9|NM_138995.5" HGNC:40713 MYO3B-AS1 MYO3B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Antisense RNAs 1987 2018-09-27 2018-09-27 101929753 ENSG00000231898 OTTHUMG00000154003 NR_110576 HGNC:40713 -HGNC:7602 MYO5A myosin VA protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "MYO5|GS1|MYR12" "myosin, heavy polypeptide kinase|myosin heavy chain 12|myoxin|myosin V|Unconventional myosin-Va" MYH12 "myosin VA (heavy polypeptide 12, myoxin)|myosin VA (heavy chain 12, myoxin)" Myosin heavy chains, class V 1100 1993-09-23 2015-09-09 2023-01-20 4644 ENSG00000197535 OTTHUMG00000137383 uc002aby.4 NM_000259 "CCDS91999|CCDS42037|CCDS92001|CCDS45262" Q9Y4I1 "8188282|8022818" MGI:105976 RGD:3143 "MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1)|http://structure.bmc.lu.se/idbase/MYO5Abase/|LRG_86|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_86.xml" MYO5A 160777 123645 HGNC:7602 "ENST00000399233.7|NM_001382347.1" HGNC:7602 +HGNC:7602 MYO5A myosin VA protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "MYO5|GS1|MYR12" "myosin, heavy polypeptide kinase|myosin heavy chain 12|myoxin|myosin V|Unconventional myosin-Va" MYH12 "myosin VA (heavy polypeptide 12, myoxin)|myosin VA (heavy chain 12, myoxin)" Myosin heavy chains, class V 1100 1993-09-23 2015-09-09 2023-01-20 4644 ENSG00000197535 OTTHUMG00000137383 uc002aby.4 NM_000259 "CCDS45262|CCDS91999|CCDS42037|CCDS92001" Q9Y4I1 "8188282|8022818" MGI:105976 RGD:3143 "MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1)|http://structure.bmc.lu.se/idbase/MYO5Abase/|LRG_86|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_86.xml" MYO5A 160777 123645 HGNC:7602 "ENST00000399233.7|NM_001382347.1" HGNC:7602 HGNC:7603 MYO5B myosin VB protein-coding gene gene with protein product Approved 18q 18q KIAA1119 "Myosin heavy chains, class V|MicroRNA protein coding host genes" "1100|1691" 1996-04-04 2023-01-20 4645 ENSG00000167306 OTTHUMG00000179843 uc002leb.3 AB032945 NM_001080467 CCDS42436 Q9ULV0 "8884266|17462998" MGI:106598 RGD:621347 606540 171089 HGNC:7603 "ENST00000285039.12|NM_001080467.3" HGNC:7603 HGNC:38495 MYO5BP1 myosin VB pseudogene 1 pseudogene pseudogene Approved 9p11.2 09p11.2 2010-05-18 2015-02-02 441420 ENSG00000274680 OTTHUMG00000188455 XR_036959 PGOHUM00000304213 HGNC:38495 HGNC:38496 MYO5BP2 myosin VB pseudogene 2 pseudogene pseudogene Approved 9q13 09q13 2010-05-18 2016-10-05 392335 ENSG00000238245 OTTHUMG00000058165 NG_021658 PGOHUM00000236583 HGNC:38496 HGNC:38497 MYO5BP3 myosin VB pseudogene 3 pseudogene pseudogene Approved 9q13 09q13 2010-05-18 2016-10-05 441442 ENSG00000228656 OTTHUMG00000058679 NG_021621 PGOHUM00000236170 HGNC:38497 HGNC:7604 MYO5C myosin VC protein-coding gene gene with protein product Approved 15q21.2 15q21.2 MGC74969 myosin 5C "Myosin heavy chains, class V|MicroRNA protein coding host genes" "1100|1691" 2000-07-31 2023-01-20 55930 ENSG00000128833 OTTHUMG00000172630 uc010bff.4 AF272390 NM_018728 CCDS42036 Q9NQX4 11870218 MGI:2442485 RGD:1309994 610022 HGNC:7604 "ENST00000261839.12|NM_018728.4" -HGNC:7605 MYO6 myosin VI protein-coding gene gene with protein product Approved 6q14.1 06q14.1 KIAA0389 "DFNA22|DFNB37" deafness, autosomal recessive 37 Myosin heavy chains, class VI 1101 1996-04-04 2004-05-19 2023-01-20 4646 ENSG00000196586 OTTHUMG00000015061 uc003pih.2 "U90236|AB002387" NM_004999 "CCDS75481|CCDS34487|CCDS93948|CCDS93950|CCDS93949" Q9UM54 "9259267|11468689" MGI:104785 RGD:1560646 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=MYO6|LRG_438|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_438.xml" 600970 123648 HGNC:7605 "ENST00000369977.8|NM_004999.4" HGNC:7605 -HGNC:7606 MYO7A myosin VIIA protein-coding gene gene with protein product Approved 11q13.5 11q13.5 NSRD2 "USH1B|DFNB2|DFNA11" myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) "A-kinase anchoring proteins|Myosin heavy chains, class VII|FERM domain containing" "396|1102|1293" 1992-06-08 2005-09-12 2023-03-15 4647 ENSG00000137474 OTTHUMG00000152822 uc001oyc.3 U39226 NM_000260 "CCDS53683|CCDS53684|CCDS91543" Q13402 8884266 MGI:104510 RGD:628830 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|Mutations of the Myosin VIIa Gene|http://www.retina-international.org/files/sci-news/myomut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=MYO7A|LRG_1420|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1420.xml" 276903 123653 HGNC:7606 "ENST00000409709.9|NM_000260.4" HGNC:7606 -HGNC:7607 MYO7B myosin VIIB protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "Myosin heavy chains, class VII|FERM domain containing" "1102|1293" 1996-04-04 2023-01-20 4648 ENSG00000169994 OTTHUMG00000153419 uc002top.3 NM_001080527 "CCDS92860|CCDS46405|CCDS92861" Q6PIF6 "8022818|8884266" MGI:107709 RGD:1561153 606541 HGNC:7607 "ENST00000409816.8|NM_001393586.1" +HGNC:7605 MYO6 myosin VI protein-coding gene gene with protein product Approved 6q14.1 06q14.1 KIAA0389 "DFNA22|DFNB37" deafness, autosomal recessive 37 Myosin heavy chains, class VI 1101 1996-04-04 2004-05-19 2023-01-20 4646 ENSG00000196586 OTTHUMG00000015061 uc003pih.2 "U90236|AB002387" NM_004999 "CCDS34487|CCDS93950|CCDS93948|CCDS93949|CCDS75481" Q9UM54 "9259267|11468689" MGI:104785 RGD:1560646 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=MYO6|LRG_438|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_438.xml" 600970 123648 HGNC:7605 "ENST00000369977.8|NM_004999.4" HGNC:7605 +HGNC:7606 MYO7A myosin VIIA protein-coding gene gene with protein product Approved 11q13.5 11q13.5 NSRD2 "USH1B|DFNB2|DFNA11" myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) "A-kinase anchoring proteins|Myosin heavy chains, class VII|FERM domain containing" "396|1102|1293" 1992-06-08 2005-09-12 2023-03-15 4647 ENSG00000137474 OTTHUMG00000152822 uc001oyc.3 U39226 NM_000260 "CCDS53683|CCDS91543|CCDS53684" Q13402 8884266 MGI:104510 RGD:628830 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|Mutations of the Myosin VIIa Gene|http://www.retina-international.org/files/sci-news/myomut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=MYO7A|LRG_1420|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1420.xml" 276903 123653 HGNC:7606 "ENST00000409709.9|NM_000260.4" HGNC:7606 +HGNC:7607 MYO7B myosin VIIB protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "Myosin heavy chains, class VII|FERM domain containing" "1102|1293" 1996-04-04 2023-01-20 4648 ENSG00000169994 OTTHUMG00000153419 uc002top.3 NM_001080527 "CCDS92861|CCDS92860|CCDS46405" Q6PIF6 "8022818|8884266" MGI:107709 RGD:1561153 606541 HGNC:7607 "ENST00000409816.8|NM_001393586.1" HGNC:7608 MYO9A myosin IXA protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ11061|FLJ13244|MGC71859" Myosin heavy chains, class IX 1103 1996-04-04 2023-01-20 4649 ENSG00000066933 OTTHUMG00000133440 uc002atl.6 AF117888 NM_006901 CCDS10239 B2RTY4 10409426 MGI:107735 RGD:621395 604875 HGNC:7608 "ENST00000356056.10|NM_006901.4" HGNC:7608 -HGNC:7609 MYO9B myosin IXB protein-coding gene gene with protein product Approved 19p13.11 19p13.11 CELIAC4 Myosin heavy chains, class IX 1103 1996-04-04 2023-01-20 4650 ENSG00000099331 OTTHUMG00000182707 uc002nfi.3 NM_001130065 "CCDS92551|CCDS46010" Q13459 9226381 MGI:106624 RGD:3146 602129 HGNC:7609 "ENST00000682292.1|NM_004145.4" +HGNC:7609 MYO9B myosin IXB protein-coding gene gene with protein product Approved 19p13.11 19p13.11 CELIAC4 Myosin heavy chains, class IX 1103 1996-04-04 2023-01-20 4650 ENSG00000099331 OTTHUMG00000182707 uc002nfi.3 NM_001130065 "CCDS46010|CCDS92551" Q13459 9226381 MGI:106624 RGD:3146 602129 HGNC:7609 "ENST00000682292.1|NM_004145.4" HGNC:7593 MYO10 myosin X protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "KIAA0799|MyoX" Unconventional myosin-X "Pleckstrin homology domain containing|Myosin heavy chains, class X|FERM domain containing" "682|1104|1293" 1996-07-19 2023-01-20 4651 ENSG00000145555 OTTHUMG00000161822 uc003jft.5 AF247457 NM_012334 CCDS54834 Q9HD67 "8884266|16894163" MGI:107716 RGD:1307193 601481 HGNC:7593 "ENST00000513610.6|NM_012334.3" HGNC:7594 MYO15A myosin XVA protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DFNB3|MYO15" "Myosin heavy chains, class XV|FERM domain containing" "1105|1293" 1998-05-29 2023-01-20 51168 ENSG00000091536 OTTHUMG00000059390 uc060cbc.1 AF144094 NM_016239 CCDS42271 Q9UKN7 9603736 MGI:1261811 RGD:1561873 602666 123641 HGNC:7594 "ENST00000647165.2|NM_016239.4" HGNC:7594 HGNC:14083 MYO15B myosin XVB protein-coding gene gene with protein product Approved 17q25.1 17q25.1 MYO15BP myosin XVB pseudogene "Myosin heavy chains, class XV|FERM domain containing" "1105|1293" 2001-06-12 2015-05-12 2023-01-20 80022 ENSG00000266714 OTTHUMG00000179794 uc284ojh.1 NM_001309242 CCDS92396 Q96JP2 11294886 MGI:2685534 RGD:1597365 HGNC:14083 "ENST00000645453.3|NM_001395058.1" HGNC:29822 MYO16 myosin XVI protein-coding gene gene with protein product Approved 13q33.3 13q33.3 "MYR8|KIAA0865|Myo16b|NYAP3|PPP1R107" "neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3|protein phosphatase 1, regulatory subunit 107" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin heavy chains, class XVI" "403|694|1106" 2007-02-12 2023-01-20 23026 ENSG00000041515 OTTHUMG00000017333 uc001vqt.1 NM_015011 "CCDS73598|CCDS32008" Q9Y6X6 "11588169|17029291|21946561" MGI:2685951 RGD:621561 615479 470712 HGNC:29822 "ENST00000457511.7|NM_001198950.3" HGNC:39913 MYO16-AS1 MYO16 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 MYO16 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100885782 ENSG00000236242 OTTHUMG00000017335 uc031qng.2 NR_047700 MYO16-AS1 HGNC:39913 HGNC:39914 MYO16-AS2 MYO16 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 MYO16 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874067 ENSG00000229938 OTTHUMG00000017332 uc058yfa.1 NR_046538 MYO16-AS2 -HGNC:31104 MYO18A myosin XVIIIA protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA0216|MysPDZ" TIAF1 TGFB1-induced anti-apoptotic factor 1 "Myosin heavy chains, class XVIII|PDZ domain containing" "1107|1220" 2004-02-13 2023-01-20 399687 ENSG00000196535 OTTHUMG00000166360 uc002hdt.2 D86970 NM_078471 "CCDS92285|CCDS86587|CCDS45642|CCDS45641" "O95411|Q92614" 12761286 MGI:2667185 RGD:1562698 "609517|610067" HGNC:31104 "ENST00000527372.7|NM_078471.4" +HGNC:31104 MYO18A myosin XVIIIA protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA0216|MysPDZ" TIAF1 TGFB1-induced anti-apoptotic factor 1 "Myosin heavy chains, class XVIII|PDZ domain containing" "1107|1220" 2004-02-13 2023-01-20 399687 ENSG00000196535 OTTHUMG00000166360 uc002hdt.2 D86970 NM_078471 "CCDS45641|CCDS86587|CCDS92285|CCDS45642" "O95411|Q92614" 12761286 MGI:2667185 RGD:1562698 "609517|610067" HGNC:31104 "ENST00000527372.7|NM_078471.4" HGNC:18150 MYO18B myosin XVIIIB protein-coding gene gene with protein product Approved 22q12.1 22q12.1 BK125H2.1 Myosin heavy chains, class XVIII 1107 2002-04-29 2023-01-20 84700 ENSG00000133454 OTTHUMG00000151129 uc003abz.1 AJ310931 NM_032608 "CCDS54507|CCDS82703" Q8IUG5 "12209013|12547197" MGI:1921626 RGD:1594542 607295 457111 HGNC:18150 "ENST00000335473.12|NM_032608.7" HGNC:18150 HGNC:40831 MYO18B-AS1 MYO18B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Antisense RNAs 1987 2019-08-16 2019-08-16 2019-08-16 2019-08-16 105372963 ENSG00000231933 OTTHUMG00000150907 XR_007068034 HGNC:40831 -HGNC:26234 MYO19 myosin XIX protein-coding gene gene with protein product Approved 17q12 17q12 FLJ22865 MYOHD1 myosin head domain containing 1 Myosin heavy chains, class XIX 1108 2004-02-24 2007-09-26 2007-09-26 2023-01-20 80179 ENSG00000278259 OTTHUMG00000188437 uc032fdu.2 BC008900 NM_025109 "CCDS59283|CCDS45654|CCDS54112" Q96H55 "17877792|19932026" MGI:1913446 RGD:1559961 617379 HGNC:26234 "ENST00000614623.5|NM_001163735.2" +HGNC:26234 MYO19 myosin XIX protein-coding gene gene with protein product Approved 17q12 17q12 FLJ22865 MYOHD1 myosin head domain containing 1 Myosin heavy chains, class XIX 1108 2004-02-24 2007-09-26 2007-09-26 2023-01-20 80179 ENSG00000278259 OTTHUMG00000188437 uc032fdu.2 BC008900 NM_025109 "CCDS45654|CCDS54112|CCDS59283" Q96H55 "17877792|19932026" MGI:1913446 RGD:1559961 617379 HGNC:26234 "ENST00000614623.5|NM_001163735.2" HGNC:7610 MYOC myocilin protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "TIGR|JOAG1" "trabecular meshwork inducible glucocorticoid response protein|juvenile-onset open-angle glaucoma 1" GLC1A myocilin, trabecular meshwork inducible glucocorticoid response 1997-01-10 2016-03-08 2023-01-20 4653 ENSG00000034971 OTTHUMG00000034789 uc001ghu.4 BC029261 NM_000261 CCDS1297 Q99972 "9169133|9005853" MGI:1202864 RGD:620430 601652 123659 HGNC:7610 "ENST00000037502.11|NM_000261.2" HGNC:7610 HGNC:16067 MYOCD myocardin protein-coding gene gene with protein product Approved 17p12 17p12 MYCD Myocardin family 1407 2004-03-01 2023-03-15 93649 ENSG00000141052 OTTHUMG00000058767 uc002gnn.4 AF532596 NM_153604 "CCDS11163|CCDS54091" Q8IZQ8 "11439182|12397177" MGI:2137495 RGD:631347 606127 HGNC:16067 "ENST00000425538.6|NM_001146312.3" HGNC:16067 HGNC:40750 MYOCD-AS1 MYOCD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p12 17p12 Antisense RNAs 1987 2019-08-16 2019-08-16 101928418 ENSG00000227274 OTTHUMG00000058769 NR_104605 HGNC:40750 HGNC:53429 MYOCOS myocilin opposite strand protein-coding gene gene with protein product Approved 1q24.3 01q24.3 2017-03-31 2023-01-20 110806290 ENSG00000283683 OTTHUMG00000191791 NM_001368164 CCDS91106 A0A1B0GUC4 MGI:3642786 HGNC:53429 "ENST00000637642.2|NM_001391940.1" HGNC:7611 MYOD1 myogenic differentiation 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "PUM|MYOD|bHLHc1" myoblast determination protein 1 MYF3 myogenic factor 3 "Basic helix-loop-helix proteins|Myogenic regulatory family" "420|1609" 1989-06-30 2005-09-12 2023-01-20 4654 ENSG00000129152 OTTHUMG00000166358 uc001mni.4 AF027148 NM_002478 CCDS7826 P15172 MGI:97275 RGD:631429 MYOD1 159970 459238 HGNC:7611 "ENST00000250003.4|NM_002478.5" HGNC:7611 -HGNC:3656 MYOF myoferlin protein-coding gene gene with protein product Approved 10q23.33 10q23.33 KIAA1207 fer-1-like family member 3 FER1L3 "fer-1 (C.elegans)-like 3 (myoferlin)|fer-1-like 3, myoferlin (C. elegans)" Ferlin family 828 1999-12-14 2008-11-26 2008-11-26 2023-01-20 26509 ENSG00000138119 OTTHUMG00000018772 uc001kin.4 AB033033 NM_013451 "CCDS41550|CCDS41551" Q9NZM1 "10607832|10995573|17702744" MGI:1919192 RGD:1564216 604603 HGNC:3656 "ENST00000359263.9|NM_013451.4" +HGNC:3656 MYOF myoferlin protein-coding gene gene with protein product Approved 10q23.33 10q23.33 KIAA1207 fer-1-like family member 3 FER1L3 "fer-1 (C.elegans)-like 3 (myoferlin)|fer-1-like 3, myoferlin (C. elegans)" Ferlin family 828 1999-12-14 2008-11-26 2008-11-26 2023-01-20 26509 ENSG00000138119 OTTHUMG00000018772 uc001kin.4 AB033033 NM_013451 "CCDS41551|CCDS41550" Q9NZM1 "10607832|10995573|17702744" MGI:1919192 RGD:1564216 604603 HGNC:3656 "ENST00000359263.9|NM_013451.4" HGNC:7612 MYOG myogenin protein-coding gene gene with protein product Approved 1q32.1 01q32.1 bHLHc3 myogenic factor 4 MYF4 myogenin (myogenic factor 4) "Basic helix-loop-helix proteins|Myogenic regulatory family" "420|1609" 1990-11-20 2016-06-03 2023-01-20 4656 ENSG00000122180 OTTHUMG00000042127 uc001gzd.5 BC053899 NM_002479 CCDS1433 P15173 10329008 MGI:97276 RGD:620432 159980 HGNC:7612 "ENST00000241651.5|NM_002479.6" -HGNC:7613 MYOM1 myomesin 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 skelemin "myomesin 1 (skelemin) (185kD)|myomesin 1 (skelemin) 185kDa|myomesin 1, 185kDa" "I-set domain containing|Myosin binding proteins" "593|658" 1998-12-09 2012-10-17 2023-01-20 8736 ENSG00000101605 OTTHUMG00000178209 uc002klp.3 AF185573 NM_003803 "CCDS45823|CCDS45824" P52179 9806852 MGI:1341430 RGD:631436 LRG_426|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_426.xml 603508 470716 HGNC:7613 "ENST00000356443.9|NM_003803.4" HGNC:7613 +HGNC:7613 MYOM1 myomesin 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 skelemin "myomesin 1 (skelemin) (185kD)|myomesin 1 (skelemin) 185kDa|myomesin 1, 185kDa" "I-set domain containing|Myosin binding proteins" "593|658" 1998-12-09 2012-10-17 2023-01-20 8736 ENSG00000101605 OTTHUMG00000178209 uc002klp.3 AF185573 NM_003803 "CCDS45824|CCDS45823" P52179 9806852 MGI:1341430 RGD:631436 LRG_426|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_426.xml 603508 470716 HGNC:7613 "ENST00000356443.9|NM_003803.4" HGNC:7613 HGNC:7614 MYOM2 myomesin 2 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 "myomesin (M-protein) 2 (165kD)|myomesin (M-protein) 2, 165kDa" "I-set domain containing|Myosin binding proteins|MicroRNA protein coding host genes" "593|658|1691" 1998-12-09 2012-10-17 2023-01-20 9172 ENSG00000036448 OTTHUMG00000129175 uc033azy.2 NM_003970 CCDS5957 P54296 MGI:1328358 RGD:631437 603509 HGNC:7614 "ENST00000262113.9|NM_003970.4" HGNC:26679 MYOM3 myomesin 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ35961 myomesin family, member 3 "I-set domain containing|Myosin binding proteins" "593|658" 2004-07-06 2012-10-17 2023-01-20 127294 ENSG00000142661 OTTHUMG00000002969 uc001bin.5 AK093280 NM_152372 CCDS41281 Q5VTT5 18177667 MGI:2685280 RGD:1310060 616832 HGNC:26679 "ENST00000374434.4|NM_152372.4" HGNC:41158 MYOM3-AS1 MYOM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Antisense RNAs 1987 2019-08-16 2019-08-16 107985737 ENSG00000230703 OTTHUMG00000003037 XR_001737930 HGNC:41158 @@ -22003,7 +22005,7 @@ HGNC:54178 MYOPARR myogenin promoter associated myogenic regulatory antisense lo HGNC:19918 MYORG myogenesis regulating glycosidase (putative) protein-coding gene gene with protein product Approved 9p13.3 09p13.3 NET37 KIAA1161 KIAA1161 Glycoside hydrolase family 31 1413 2003-11-21 2017-07-26 2017-07-26 2023-01-20 57462 ENSG00000164976 OTTHUMG00000019816 uc033cpb.2 AB032987 NM_020702 CCDS78391 Q6NSJ0 "10574461|19706595" MGI:2140300 RGD:1309821 618255 HGNC:19918 "ENST00000297625.8|NM_020702.5" HGNC:19918 HGNC:51821 MYOSLID myocardin-induced smooth muscle lncRNA, inducer of differentiation non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 Long non-coding RNAs with non-systematic symbols 1992 2016-11-30 2018-08-24 105373853 ENSG00000229647 OTTHUMG00000154787 NR_146555 27444199 618976 HGNC:51821 HGNC:54063 MYOSLID-AS1 MYOSLID antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 Antisense RNAs 1987 2018-09-27 2018-09-27 101927865 NR_110283 HGNC:54063 -HGNC:12399 MYOT myotilin protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "TTID|LGMD1A|LGMD1" "titin immunoglobulin domain protein (myotilin)|limb-girdle muscular dystrophy 1A (autosomal dominant)" I-set domain containing 593 1999-04-16 2005-09-07 2005-09-07 2023-01-20 9499 ENSG00000120729 OTTHUMG00000129154 uc003lbv.4 AF133820 NM_006790 "CCDS75309|CCDS4194|CCDS47268" Q9UBF9 "10486214|10369880" MGI:1889800 RGD:1310569 "Myotilin (TTID) sequence variations|http://www.LOVD.nl/MYOT|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=MYOT|LRG_201|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_201.xml" 604103 123664 HGNC:12399 "ENST00000239926.9|NM_006790.3" HGNC:12399 +HGNC:12399 MYOT myotilin protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "TTID|LGMD1A|LGMD1" "titin immunoglobulin domain protein (myotilin)|limb-girdle muscular dystrophy 1A (autosomal dominant)" I-set domain containing 593 1999-04-16 2005-09-07 2005-09-07 2023-01-20 9499 ENSG00000120729 OTTHUMG00000129154 uc003lbv.4 AF133820 NM_006790 "CCDS75309|CCDS47268|CCDS4194" Q9UBF9 "10486214|10369880" MGI:1889800 RGD:1310569 "Myotilin (TTID) sequence variations|http://www.LOVD.nl/MYOT|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=MYOT|LRG_201|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_201.xml" 604103 123664 HGNC:12399 "ENST00000239926.9|NM_006790.3" HGNC:12399 HGNC:13752 MYOZ1 myozenin 1 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "FATZ|CS-2" calsarcin-2 MYOZ myozenin Myozenins 1607 2000-10-23 2002-01-11 2002-01-10 2023-01-20 58529 ENSG00000177791 OTTHUMG00000018466 uc001jur.5 AF240633 NM_021245 CCDS7330 Q9NP98 "11171996|10984498" MGI:1929471 RGD:1561064 605603 HGNC:13752 "ENST00000359322.5|NM_021245.4" HGNC:1330 MYOZ2 myozenin 2 protein-coding gene gene with protein product Approved 4q26 04q26 "CS-1|FATZ-2" calsarcin-1 C4orf5 chromosome 4 open reading frame 5 Myozenins 1607 2000-05-02 2002-01-11 2002-01-07 2023-01-20 51778 ENSG00000172399 OTTHUMG00000132968 uc003icp.4 AF249873 NM_016599 CCDS3711 Q9NPC6 "8619474|9110174" MGI:1913063 RGD:1307669 LRG_396|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_396.xml 605602 264425 HGNC:1330 "ENST00000307128.6|NM_016599.5" HGNC:1330 HGNC:18565 MYOZ3 myozenin 3 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "CS-3|CS3|FRP3|FATZ-3" "calsarcin 3|FATZ related protein 3" Myozenins 1607 2002-04-26 2023-01-20 91977 ENSG00000164591 OTTHUMG00000130077 uc003lsr.4 AF480443 NM_001122853 CCDS4309 Q8TDC0 11842093 MGI:2179296 RGD:1594778 610735 HGNC:18565 "ENST00000517768.6|NM_001122853.3" @@ -22014,10 +22016,10 @@ HGNC:56685 MYREM MYBPC2 cis regulating lncRNA enhancer of myogenesis non-coding HGNC:1181 MYRF myelin regulatory factor protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "Ndt80|pqn-47|MRF" myelin gene regulatory factor C11orf9 chromosome 11 open reading frame 9 1998-07-30 2012-12-19 2012-12-19 2023-01-20 745 ENSG00000124920 OTTHUMG00000168161 uc001nse.1 NM_013279 "CCDS44622|CCDS31579" Q9Y2G1 "10828591|12384578" MGI:2684944 RGD:1306622 608329 470718 HGNC:1181 "ENST00000278836.10|NM_001127392.3" HGNC:1181 HGNC:24506 MYRF-AS1 MYRF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 DKFZP434K028 Antisense RNAs 1987 2019-04-24 2021-11-25 26070 ENSG00000124915 NR_026882 12477932 HGNC:24506 HGNC:26316 MYRFL myelin regulatory factor like protein-coding gene gene with protein product Approved 12q15 12q15 "FLJ25056|bcm1377" "C12orf15|C12orf28" "chromosome 12 open reading frame 15|chromosome 12 open reading frame 28|myelin regulatory factor-like" 2006-01-06 2012-12-19 2018-02-08 2023-01-20 196446 ENSG00000166268 OTTHUMG00000169438 uc001svu.2 AK057785 NM_182530 CCDS76577 Q96LU7 MGI:2685085 RGD:1562127 HGNC:26316 "ENST00000552032.7|NM_182530.3" -HGNC:19156 MYRIP myosin VIIA and Rab interacting protein protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "DKFZp586F1018|exophilin-8|SLAC2-C|SLAC2C" "synaptotagmin-like protein homologue lacking C2 domains-c|rab effector MYRIP|Slp homologue lacking C2 domains" A-kinase anchoring proteins 396 2002-09-13 2023-01-20 25924 ENSG00000170011 OTTHUMG00000131392 uc003cka.5 AF396687 NM_015460 "CCDS2689|CCDS68392|CCDS68391|CCDS68390" Q8NFW9 "11964381|12221080|17827149" MGI:2384407 RGD:727731 611790 HGNC:19156 "ENST00000302541.11|NM_015460.4" +HGNC:19156 MYRIP myosin VIIA and Rab interacting protein protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "DKFZp586F1018|exophilin-8|SLAC2-C|SLAC2C" "synaptotagmin-like protein homologue lacking C2 domains-c|rab effector MYRIP|Slp homologue lacking C2 domains" A-kinase anchoring proteins 396 2002-09-13 2023-01-20 25924 ENSG00000170011 OTTHUMG00000131392 uc003cka.5 AF396687 NM_015460 "CCDS68391|CCDS68390|CCDS2689|CCDS68392" Q8NFW9 "11964381|12221080|17827149" MGI:2384407 RGD:727731 611790 HGNC:19156 "ENST00000302541.11|NM_015460.4" HGNC:29401 MYSM1 Myb like, SWIRM and MPN domains 1 protein-coding gene gene with protein product Approved 1p32.1 01p32.1 KIAA1915 Myb-like, SWIRM and MPN domains 1 "Myb/SANT domain containing|JAMM/MPN+ metallopeptidase family" "532|999" 2005-07-14 2016-02-23 2023-01-20 114803 ENSG00000162601 OTTHUMG00000009533 uc009wab.3 AB067502 NM_001085487 CCDS41343 Q5VVJ2 "11572484|17428495|17707232" MGI:2444584 RGD:1311787 LRG_1411|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1411.xml 612176 470720 M67.005 HGNC:29401 "ENST00000472487.6|NM_001085487.3" HGNC:29401 HGNC:7622 MYT1 myelin transcription factor 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "MTF1|MYTI|ZC2HC4A|NZF2|ZC2H2C1" neural zinc finger transcription factor 2 PLPB1 Zinc fingers C2H2C-type 1261 1991-08-08 2023-01-20 4661 ENSG00000196132 OTTHUMG00000149988 uc002yii.3 M96980 NM_004535 CCDS13558 Q01538 "1280325|9268380" MGI:1100535 RGD:1304899 600379 HGNC:7622 "ENST00000328439.6|NM_004535.3" -HGNC:7623 MYT1L myelin transcription factor 1 like protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "KIAA1106|NZF1|ZC2HC4B|ZC2H2C2" neural zinc finger transcription factor 1 Zinc fingers C2H2C-type 1261 1996-07-11 2016-01-11 2023-01-20 23040 ENSG00000186487 OTTHUMG00000151407 uc002qxd.4 AF036943 NM_015025 "CCDS92707|CCDS92706|CCDS46222|CCDS92704|CCDS92709|CCDS77378" Q9UL68 9373037 MGI:1100511 RGD:620550 613084 470722 HGNC:7623 "ENST00000647738.2|NM_001303052.2" HGNC:7623 +HGNC:7623 MYT1L myelin transcription factor 1 like protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "KIAA1106|NZF1|ZC2HC4B|ZC2H2C2" neural zinc finger transcription factor 1 Zinc fingers C2H2C-type 1261 1996-07-11 2016-01-11 2023-01-20 23040 ENSG00000186487 OTTHUMG00000151407 uc002qxd.4 AF036943 NM_015025 "CCDS92706|CCDS92707|CCDS46222|CCDS92704|CCDS92709|CCDS77378" Q9UL68 9373037 MGI:1100511 RGD:620550 613084 470722 HGNC:7623 "ENST00000647738.2|NM_001303052.2" HGNC:7623 HGNC:49274 MYT1L-AS1 MYT1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 Antisense RNAs 1987 2013-10-15 2013-10-15 730811 ENSG00000225619 OTTHUMG00000151409 NR_024468 MYT1L-AS1 HGNC:49274 HGNC:43444 MYZAP myocardial zonula adherens protein protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "MYOZAP|Gup|Gup1|GCOM1" myocardium-enriched zonula adherens protein 2011-11-03 2023-01-20 100820829 ENSG00000263155 OTTHUMG00000132453 uc002aei.4 FJ970029 NM_001018100 "CCDS42044|CCDS10162" P0CAP1 "20093627|21992629|22160502" MGI:2142908 RGD:1359197 614071 HGNC:43444 "ENST00000267853.10|NM_001018100.5" HGNC:30125 MZB1 marginal zone B and B1 cell specific protein protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "PACAP|MGC29506|HSPC190|pERp1|MEDA-7" "plasma cell-induced ER protein 1|proapoptotic caspase adaptor protein|mesenteric oestrogen-dependent adipose gene- 7" marginal zone B and B1 cell-specific protein 2012-09-19 2016-01-27 2023-01-20 51237 ENSG00000170476 OTTHUMG00000163390 uc003lei.4 AF151024 NM_016459 CCDS47273 Q8WU39 "22573353|12573802|11350957|21093319|21688198" MGI:1917066 RGD:1310251 609447 HGNC:30125 "ENST00000302125.9|NM_016459.4" @@ -22027,43 +22029,43 @@ HGNC:33830 MZT1 mitotic spindle organizing protein 1 protein-coding gene gene wi HGNC:50605 MZT1P1 mitotic spindle organizing protein 1 pseudogene 1 pseudogene pseudogene Approved 1p36.22 01p36.22 2014-05-22 2014-05-22 106480302 ENSG00000271264 OTTHUMG00000184268 NG_044274 PGOHUM00000244596 HGNC:50605 HGNC:50606 MZT1P2 mitotic spindle organizing protein 1 pseudogene 2 pseudogene pseudogene Approved 7q34 07q34 2014-05-22 2014-05-22 101929581 ENSG00000271404 OTTHUMG00000184423 PGOHUM00000233592 HGNC:50606 HGNC:33187 MZT2A mitotic spindle organizing protein 2A protein-coding gene gene with protein product Approved 2q21.1 02q21.1 MOZART2A mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A FAM128A family with sequence similarity 128, member A MicroRNA protein coding host genes 1691 2006-11-22 2010-07-22 2010-07-22 2023-01-20 653784 ENSG00000173272 OTTHUMG00000153606 uc002tsw.5 BC018206 NM_001085365 CCDS42758 Q6P582 20360068 MGI:1922845 RGD:1308126 613449 HGNC:33187 "ENST00000309451.7|NM_001085365.2" -HGNC:25886 MZT2B mitotic spindle organizing protein 2B protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "FLJ14346|MOZART2B" mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B FAM128B family with sequence similarity 128, member B 2006-11-22 2010-07-22 2010-07-22 2023-01-20 80097 ENSG00000152082 OTTHUMG00000131625 uc002tqu.3 BC066296 NM_025029 "CCDS82511|CCDS2157" Q6NZ67 20360068 MGI:1922845 613450 HGNC:25886 "ENST00000281871.11|NM_025029.5" +HGNC:25886 MZT2B mitotic spindle organizing protein 2B protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "FLJ14346|MOZART2B" mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B FAM128B family with sequence similarity 128, member B 2006-11-22 2010-07-22 2010-07-22 2023-01-20 80097 ENSG00000152082 OTTHUMG00000131625 uc002tqu.3 BC066296 NM_025029 "CCDS2157|CCDS82511" Q6NZ67 20360068 MGI:1922845 613450 HGNC:25886 "ENST00000281871.11|NM_025029.5" HGNC:29850 N4BP1 NEDD4 binding protein 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 2008-01-18 2023-01-20 9683 ENSG00000102921 OTTHUMG00000175421 uc002efp.3 AK026937 NM_014664 CCDS45479 O75113 "9734811|11717310" MGI:2136825 RGD:1305179 619138 HGNC:29850 "ENST00000262384.4|NM_153029.4" HGNC:29851 N4BP2 NEDD4 binding protein 2 protein-coding gene gene with protein product Approved 4p14 04p14 B3BP BCL-3 binding protein 2008-01-18 2023-01-20 55728 ENSG00000078177 OTTHUMG00000128599 uc003guy.5 AB037834 NM_018177 CCDS3457 Q86UW6 "10718198|11717310" MGI:2684414 RGD:1565738 619139 HGNC:29851 "ENST00000261435.11|NM_018177.6" HGNC:25037 N4BP2L1 NEDD4 binding protein 2 like 1 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 CG018 hypothetical gene CG018 2008-01-18 2016-07-06 2023-01-20 90634 ENSG00000139597 OTTHUMG00000016697 uc001uuc.4 U50527 NM_052818 "CCDS41877|CCDS9345" Q5TBK1 8812419 MGI:2140872 RGD:1595713 HGNC:25037 "ENST00000380130.7|NM_052818.3" -HGNC:26916 N4BP2L2 NEDD4 binding protein 2 like 2 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "CG005|PFAAP5" phosphonoformate immuno-associated protein 5 2008-01-18 2016-07-06 2023-01-20 10443 ENSG00000244754 OTTHUMG00000016700 uc001uuk.5 U50532 NM_014887 "CCDS91798|CCDS45024|CCDS9346|CCDS91796|CCDS61307|CCDS91799|CCDS91797" Q92802 8812419 MGI:2687207 RGD:1359603 615788 HGNC:26916 "ENST00000267068.6|NM_014887.3" +HGNC:26916 N4BP2L2 NEDD4 binding protein 2 like 2 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "CG005|PFAAP5" phosphonoformate immuno-associated protein 5 2008-01-18 2016-07-06 2023-01-20 10443 ENSG00000244754 OTTHUMG00000016700 uc001uuk.5 U50532 NM_014887 "CCDS91799|CCDS91798|CCDS61307|CCDS45024|CCDS91797|CCDS9346|CCDS91796" Q92802 8812419 MGI:2687207 RGD:1359603 615788 HGNC:26916 "ENST00000267068.6|NM_014887.3" HGNC:25038 N4BP2L2-IT2 N4BPL2 intronic transcript 2 non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 CG030 N4BPL2 intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2012-09-12 2015-02-25 2015-02-25 116828 ENSG00000281026 OTTHUMG00000189577 uc010tea.2 U50531 NR_026928 8812419 N4BP2L2-IT2 HGNC:25038 HGNC:29852 N4BP3 NEDD4 binding protein 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 LZTS4 Leucine zipper tumor suppressor family 1314 2010-10-18 2023-01-20 23138 ENSG00000145911 OTTHUMG00000163456 uc003mik.2 AB002339 NM_015111 CCDS34307 O15049 "9205841|11717310" MGI:2442218 RGD:1308356 619140 HGNC:29852 "ENST00000274605.6|NM_015111.2" HGNC:16021 N6AMT1 N-6 adenine-specific DNA methyltransferase 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "PRED28|N6AMT|MTQ2|KMT9|PrmC" "C21orf127|HEMK2" "chromosome 21 open reading frame 127|HemK methyltransferase family member 2|N-6 adenine-specific DNA methyltransferase 1 (putative)" 7BS protein methyltransferases 2058 2003-12-15 2006-12-14 2017-08-08 2023-01-20 29104 ENSG00000156239 OTTHUMG00000078750 uc002ymo.3 AF139682 NM_013240 "CCDS33525|CCDS33526" Q9Y5N5 "21193388|31061526" MGI:1915018 RGD:1311843 614553 2.1.1.72 HGNC:16021 "ENST00000303775.10|NM_013240.6" HGNC:18704 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit protein-coding gene gene with protein product Approved Xq28 Xq28 "DXS707|TE2" arrest defective protein 1 "ARD1|ARD1A" "ARD1 homolog, N-acetyltransferase (S. cerevisiae)|ARD1 homolog A, N-acetyltransferase (S. cerevisiae)|N(alpha)-acetyltransferase 10, NatA catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2002-05-29 2010-01-14 2019-11-25 2023-01-20 8260 ENSG00000102030 OTTHUMG00000024225 uc004fjm.3 BC000308 NM_003491 "CCDS14737|CCDS59179" P41227 "7981673|19420222|19660095" MGI:1915255 RGD:1565315 300013 281695 2.3.1.255 HGNC:18704 "ENST00000464845.6|NM_003491.4" HGNC:18704 HGNC:28125 NAA11 N-alpha-acetyltransferase 11, NatA catalytic subunit protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "ARD2|hARD2" ARD1B "ARD1 homolog B (S. cerevisiae)|N(alpha)-acetyltransferase 11, NatA catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2005-04-08 2010-01-14 2019-11-25 2023-01-20 84779 ENSG00000156269 OTTHUMG00000160913 uc003hlt.5 NM_032693 CCDS47084 Q9BSU3 "16638120|19660095" MGI:2141314 RGD:1564723 619432 2.3.1.255 HGNC:28125 "ENST00000286794.5|NM_032693.3" HGNC:30782 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "TBDN100|NATH|FLJ13340" NARG1 "NMDA receptor regulated 1|N(alpha)-acetyltransferase 15, NatA auxiliary subunit" "N-alpha-acetyltransferase subunits|Armadillo like helical domain containing" "660|1492" 2004-12-01 2010-01-14 2019-11-25 2023-01-20 80155 ENSG00000164134 OTTHUMG00000137363 uc003ihu.2 AY039242 NM_057175 "CCDS43270|CCDS93635" Q9BXJ9 "12140756|19420222|19660095" MGI:1922088 RGD:1310984 608000 470724 HGNC:30782 "ENST00000296543.10|NM_057175.5" HGNC:30782 -HGNC:26164 NAA16 N-alpha-acetyltransferase 16, NatA auxiliary subunit protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "FLJ22054|MGC40612|PRO2435" NARG1L "NMDA receptor regulated 1-like|N(alpha)-acetyltransferase 16, NatA auxiliary subunit" "N-alpha-acetyltransferase subunits|Tetratricopeptide repeat domain containing|Armadillo like helical domain containing" "660|769|1492" 2004-12-01 2010-01-14 2019-11-25 2023-03-15 79612 ENSG00000172766 OTTHUMG00000016791 uc001uyf.2 AL833341 NM_018527 "CCDS9379|CCDS45044" Q6N069 "19480662|19660095" MGI:1914147 RGD:1584324 619497 470726 HGNC:26164 "ENST00000379406.8|NM_024561.5" -HGNC:15908 NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "dJ1002M8.1|NAT3" N-acetyltransferase 3 homolog (S. cerevisiae) NAT5 "N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)|N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)|N-acetyltransferase 5|N-acetyltransferase 5 (GCN5-related, putative)|N(alpha)-acetyltransferase 20, NatB catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2001-06-21 2010-01-14 2019-11-25 2023-01-20 51126 ENSG00000173418 OTTHUMG00000031998 uc002wrp.4 AF085355 NM_016100 "CCDS13141|CCDS42854|CCDS13142" P61599 "18570629|19660095|22814378" MGI:1915127 RGD:1307713 610833 2.3.1.254 HGNC:15908 "ENST00000334982.9|NM_016100.5" +HGNC:26164 NAA16 N-alpha-acetyltransferase 16, NatA auxiliary subunit protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "FLJ22054|MGC40612|PRO2435" NARG1L "NMDA receptor regulated 1-like|N(alpha)-acetyltransferase 16, NatA auxiliary subunit" "N-alpha-acetyltransferase subunits|Tetratricopeptide repeat domain containing|Armadillo like helical domain containing" "660|769|1492" 2004-12-01 2010-01-14 2019-11-25 2023-03-15 79612 ENSG00000172766 OTTHUMG00000016791 uc001uyf.2 AL833341 NM_018527 "CCDS45044|CCDS9379" Q6N069 "19480662|19660095" MGI:1914147 RGD:1584324 619497 470726 HGNC:26164 "ENST00000379406.8|NM_024561.5" +HGNC:15908 NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "dJ1002M8.1|NAT3" N-acetyltransferase 3 homolog (S. cerevisiae) NAT5 "N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)|N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)|N-acetyltransferase 5|N-acetyltransferase 5 (GCN5-related, putative)|N(alpha)-acetyltransferase 20, NatB catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2001-06-21 2010-01-14 2019-11-25 2023-01-20 51126 ENSG00000173418 OTTHUMG00000031998 uc002wrp.4 AF085355 NM_016100 "CCDS42854|CCDS13142|CCDS13141" P61599 "18570629|19660095|22814378" MGI:1915127 RGD:1307713 610833 2.3.1.254 HGNC:15908 "ENST00000334982.9|NM_016100.5" HGNC:55133 NAA20P1 NAA20 pseudogene 1 pseudogene pseudogene Approved Xq26.2 Xq26.2 2020-07-03 2020-07-03 107985691 ENSG00000227064 HGNC:25783 NAA25 N-alpha-acetyltransferase 25, NatB auxiliary subunit protein-coding gene gene with protein product Approved 12q24.13 12q24.13 FLJ13089 C12orf30 "chromosome 12 open reading frame 30|N(alpha)-acetyltransferase 25, NatB auxiliary subunit" "N-alpha-acetyltransferase subunits|MicroRNA protein coding host genes" "660|1691" 2006-01-17 2010-01-14 2019-11-25 2023-01-20 80018 ENSG00000111300 OTTHUMG00000169638 uc001ttm.4 AB054990 NM_024953 CCDS9159 Q14CX7 "18570629|19660095|22814378" MGI:2442563 RGD:1305685 612755 HGNC:25783 "ENST00000261745.9|NM_024953.4" HGNC:19844 NAA30 N-alpha-acetyltransferase 30, NatC catalytic subunit protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "FLJ35355|MAK3|Mak3p" "C14orf35|NAT12" "chromosome 14 open reading frame 35|N-acetyltransferase 12|N-acetyltransferase 12 (GCN5-related, putative)|N(alpha)-acetyltransferase 30, NatC catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2002-11-27 2010-01-14 2019-11-25 2023-01-20 122830 ENSG00000139977 OTTHUMG00000171311 uc001xcx.5 AK092674 NM_001011713 CCDS32088 Q147X3 "19398576|19660095" MGI:1922259 RGD:1559923 617989 2.3.1.256 HGNC:19844 "ENST00000556492.6|NM_001011713.3" HGNC:24340 NAA35 N-alpha-acetyltransferase 35, NatC auxiliary subunit protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "FLJ21613|FLJ22643|bA379P1.1" MAK10 "MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)|N(alpha)-acetyltransferase 35, NatC auxiliary subunit" N-alpha-acetyltransferase subunits 660 2004-05-11 2010-01-14 2019-11-25 2023-01-20 60560 ENSG00000135040 OTTHUMG00000020131 uc004aoi.5 AK025266 NM_024635 CCDS6673 Q5VZE5 "19398576|19660095" MGI:1925939 RGD:621771 619438 HGNC:24340 "ENST00000361671.10|NM_024635.4" -HGNC:28212 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC14151|PFAAP2" LSMD1 "LSM domain containing 1|N(alpha)-acetyltransferase 38, NatC auxiliary subunit" "N-alpha-acetyltransferase subunits|LSm proteins" "660|1505" 2005-12-15 2014-01-21 2019-11-25 2023-01-20 84316 ENSG00000183011 OTTHUMG00000178023 NM_032356 "CCDS82062|CCDS82059|CCDS82060|CCDS11122" Q9BRA0 "19398576|19660095" MGI:1925554 RGD:1559617 617990 HGNC:28212 "ENST00000575771.6|NM_001320925.4" -HGNC:25845 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FLJ13848 NAT11 "N-acetyltransferase 11|N-acetyltransferase 11 (GCN5-related, putative)|N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)|N(alpha)-acetyltransferase 40, NatD catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2006-03-10 2010-01-14 2019-11-25 2023-01-20 79829 ENSG00000110583 OTTHUMG00000167784 uc009yoz.4 AK023910 NM_024771 "CCDS8053|CCDS73311" Q86UY6 "19660095|21935442" MGI:1918249 RGD:1565838 619999 HGNC:25845 "ENST00000377793.9|NM_024771.4" -HGNC:29533 NAA50 N-alpha-acetyltransferase 50, NatE catalytic subunit protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "FLJ13194|NAT5|San" "MAK3|NAT13" "Mak3 homolog (S. cerevisiae)|N-acetyltransferase 13|N-acetyltransferase 13 (GCN5-related)|N(alpha)-acetyltransferase 50, NatE catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2004-05-19 2010-01-14 2019-11-25 2023-01-20 80218 ENSG00000121579 OTTHUMG00000159294 uc003ean.3 AK023256 NM_025146 "CCDS2975|CCDS77791" Q9GZZ1 "16507339|17502424|19660095|19744929" MGI:1919367 RGD:1310944 610834 2.3.1.- HGNC:29533 "ENST00000240922.8|NM_025146.4" +HGNC:28212 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC14151|PFAAP2" LSMD1 "LSM domain containing 1|N(alpha)-acetyltransferase 38, NatC auxiliary subunit" "N-alpha-acetyltransferase subunits|LSm proteins" "660|1505" 2005-12-15 2014-01-21 2019-11-25 2023-01-20 84316 ENSG00000183011 OTTHUMG00000178023 NM_032356 "CCDS11122|CCDS82059|CCDS82062|CCDS82060" Q9BRA0 "19398576|19660095" MGI:1925554 RGD:1559617 617990 HGNC:28212 "ENST00000575771.6|NM_001320925.4" +HGNC:25845 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FLJ13848 NAT11 "N-acetyltransferase 11|N-acetyltransferase 11 (GCN5-related, putative)|N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)|N(alpha)-acetyltransferase 40, NatD catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2006-03-10 2010-01-14 2019-11-25 2023-01-20 79829 ENSG00000110583 OTTHUMG00000167784 uc009yoz.4 AK023910 NM_024771 "CCDS73311|CCDS8053" Q86UY6 "19660095|21935442" MGI:1918249 RGD:1565838 619999 HGNC:25845 "ENST00000377793.9|NM_024771.4" +HGNC:29533 NAA50 N-alpha-acetyltransferase 50, NatE catalytic subunit protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "FLJ13194|NAT5|San" "MAK3|NAT13" "Mak3 homolog (S. cerevisiae)|N-acetyltransferase 13|N-acetyltransferase 13 (GCN5-related)|N(alpha)-acetyltransferase 50, NatE catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2004-05-19 2010-01-14 2019-11-25 2023-01-20 80218 ENSG00000121579 OTTHUMG00000159294 uc003ean.3 AK023256 NM_025146 "CCDS77791|CCDS2975" Q9GZZ1 "16507339|17502424|19660095|19744929" MGI:1919367 RGD:1310944 610834 2.3.1.- HGNC:29533 "ENST00000240922.8|NM_025146.4" HGNC:55920 NAA50P1 NAA50 pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 2021-10-15 2021-10-15 642890 ENSG00000213604 NG_021785 PGOHUM00000290501 HGNC:56631 NAA50P2 NAA50 pseudogene 2 pseudogene pseudogene Approved 3q29 03q29 2022-11-09 2022-11-09 127566427 ENSG00000213358 NG_148571 PGOHUM00000299318 -HGNC:25875 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ14154|HAT4|NatF|hNaa60" "Histone acetyltransferase type B protein 4|N-acetyltransferase 15|N-alpha-acetyltransferase F" NAT15 "N-acetyltransferase 15 (GCN5-related, putative)|N(alpha)-acetyltransferase 60, NatF catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2008-09-24 2011-08-02 2019-11-25 2023-01-20 79903 ENSG00000122390 OTTHUMG00000150268 uc002cvh.5 NM_024845 "CCDS81940|CCDS81937|CCDS81941|CCDS45396|CCDS81939|CCDS81938" Q9H7X0 "21750686|25732826" MGI:1922013 RGD:1308915 LRG_1067|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1067.xml 614246 "2.3.1.48|2.3.1.259" HGNC:25875 "ENST00000407558.9|NM_001083601.3" +HGNC:25875 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ14154|HAT4|NatF|hNaa60" "Histone acetyltransferase type B protein 4|N-acetyltransferase 15|N-alpha-acetyltransferase F" NAT15 "N-acetyltransferase 15 (GCN5-related, putative)|N(alpha)-acetyltransferase 60, NatF catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2008-09-24 2011-08-02 2019-11-25 2023-01-20 79903 ENSG00000122390 OTTHUMG00000150268 uc002cvh.5 NM_024845 "CCDS81937|CCDS81939|CCDS45396|CCDS81940|CCDS81941|CCDS81938" Q9H7X0 "21750686|25732826" MGI:1922013 RGD:1308915 LRG_1067|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1067.xml 614246 "2.3.1.48|2.3.1.259" HGNC:25875 "ENST00000407558.9|NM_001083601.3" HGNC:30252 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FUS2 NAT6 "N-acetyltransferase 6|N(alpha)-acetyltransferase 80, NatH catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2004-05-12 2018-04-18 2019-11-25 2023-01-20 24142 ENSG00000243477 OTTHUMG00000156939 uc003czj.4 AF040705 NM_012191 "CCDS56258|CCDS43095" Q93015 "11929860|11085536|29581253|29581307" MGI:1888902 RGD:6496422 607073 2.3.1.- HGNC:30252 "ENST00000443094.3|NM_001200016.2" -HGNC:736 NAAA N-acylethanolamine acid amidase protein-coding gene gene with protein product Approved 4q21.1 04q21.1 ASAHL N-acylsphingosine amidohydrolase (acid ceramidase)-like 2000-04-13 2008-04-24 2008-04-24 2023-01-20 27163 ENSG00000138744 OTTHUMG00000160855 uc003hjb.4 M92449 NM_001042402 "CCDS43239|CCDS87233" Q02083 "10610717|1446826" MGI:1914361 RGD:1307267 607469 C89.002 objectId:1402 3.5.1.- HGNC:736 "ENST00000286733.9|NM_014435.4" -HGNC:14526 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "NAALADASE2|GCPIII" glutamate carboxypeptidase III M28 metallopeptidases 1444 2001-02-28 2023-01-20 10003 ENSG00000077616 OTTHUMG00000166368 uc001pdf.5 AJ012370 NM_005467 "CCDS73364|CCDS8288" Q9Y3Q0 10085079 MGI:1919810 RGD:1305872 611636 M28.012 objectId:1609 3.4.17.21 HGNC:14526 "ENST00000534061.6|NM_005467.4" +HGNC:736 NAAA N-acylethanolamine acid amidase protein-coding gene gene with protein product Approved 4q21.1 04q21.1 ASAHL N-acylsphingosine amidohydrolase (acid ceramidase)-like 2000-04-13 2008-04-24 2008-04-24 2023-01-20 27163 ENSG00000138744 OTTHUMG00000160855 uc003hjb.4 M92449 NM_001042402 "CCDS87233|CCDS43239" Q02083 "10610717|1446826" MGI:1914361 RGD:1307267 607469 C89.002 objectId:1402 3.5.1.- HGNC:736 "ENST00000286733.9|NM_014435.4" +HGNC:14526 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "NAALADASE2|GCPIII" glutamate carboxypeptidase III M28 metallopeptidases 1444 2001-02-28 2023-01-20 10003 ENSG00000077616 OTTHUMG00000166368 uc001pdf.5 AJ012370 NM_005467 "CCDS8288|CCDS73364" Q9Y3Q0 10085079 MGI:1919810 RGD:1305872 611636 M28.012 objectId:1609 3.4.17.21 HGNC:14526 "ENST00000534061.6|NM_005467.4" HGNC:23536 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 HILAP "ileal peptidase I100|human ileal aminopeptidase" M28 metallopeptidases 1444 2003-11-21 2016-08-09 2023-01-20 10004 ENSG00000168060 OTTHUMG00000165595 uc001ocn.4 AF010141 NM_005468 CCDS31604 Q9UQQ1 "10085079|25752612" MGI:2685810 RGD:620987 602640 M28.011 objectId:1608 HGNC:23536 "ENST00000358658.8|NM_005468.3" HGNC:23219 NAALADL2 N-acetylated alpha-linked acidic dipeptidase like 2 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 glutamate carboxypeptidase II-type non-peptidase homologue "M28 metallopeptidases|MicroRNA protein coding host genes" "1444|1691" 2005-08-17 2016-08-09 2023-01-20 254827 ENSG00000177694 OTTHUMG00000157120 uc003fit.4 NM_207015 CCDS46960 Q58DX5 15168106 MGI:2685867 RGD:1565147 608806 M28.975 HGNC:23219 "ENST00000454872.6|NM_207015.3" HGNC:41016 NAALADL2-AS1 NAALADL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.3 03q26.3 NAALADL2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874245 ENSG00000225552 OTTHUMG00000157121 uc062qbl.1 NR_046714 NAALADL2-AS1 HGNC:41016 HGNC:41015 NAALADL2-AS2 NAALADL2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q26.3 03q26.3 NAALADL2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874244 ENSG00000226779 OTTHUMG00000157131 uc062qbi.1 NR_046713 NAALADL2-AS2 HGNC:41015 HGNC:41014 NAALADL2-AS3 NAALADL2 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3q26.3 03q26.3 NAALADL2 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100862679 ENSG00000230292 OTTHUMG00000157080 uc031scg.2 NR_046390 NAALADL2-AS3 HGNC:41014 -HGNC:7626 NAB1 NGFI-A binding protein 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 EGR1 binding protein 1 NGFI-A binding protein 1 (EGR1 binding protein 1) 1996-10-11 2015-11-13 2023-01-20 4664 ENSG00000138386 OTTHUMG00000132689 uc002usb.4 NM_005966 "CCDS82545|CCDS2307" Q13506 "7624335|8668170|9418898" MGI:107564 RGD:70882 600800 HGNC:7626 "ENST00000337386.10|NM_005966.4" +HGNC:7626 NAB1 NGFI-A binding protein 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 EGR1 binding protein 1 NGFI-A binding protein 1 (EGR1 binding protein 1) 1996-10-11 2015-11-13 2023-01-20 4664 ENSG00000138386 OTTHUMG00000132689 uc002usb.4 NM_005966 "CCDS2307|CCDS82545" Q13506 "7624335|8668170|9418898" MGI:107564 RGD:70882 600800 HGNC:7626 "ENST00000337386.10|NM_005966.4" HGNC:55156 NAB1P1 NAB1 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2020-07-16 2020-07-16 286456 ENSG00000228717 NG_022647 HGNC:7627 NAB2 NGFI-A binding protein 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 MADER EGR1 binding protein 2 NGFI-A binding protein 2 (EGR1 binding protein 2) 1996-10-11 2016-03-10 2023-01-20 4665 ENSG00000166886 OTTHUMG00000171192 uc001smz.3 BC065931 NM_005967 "CCDS81701|CCDS8930" Q15742 "8668170|8649813" MGI:107563 RGD:1311712 NAB2 602381 326081 HGNC:7627 "ENST00000300131.8|NM_005967.4" HGNC:26232 NABP1 nucleic acid binding protein 1 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "FLJ22833|DKFZp667M1322|FLJ13624|MGC111163|SSB2|hSSB2|SOSS-B2" "single-stranded DNA-binding protein 2|sensor of single-strand DNA complex subunit B2" "OBFC2A|NABP1-OT1" "oligonucleotide/oligosaccharide-binding fold containing 2A|NABP1 3'UTR overlapping transcript 1" 2006-01-17 2012-06-19 2012-06-19 2023-03-15 64859 ENSG00000173559 OTTHUMG00000132720 uc002usx.4 BC017114 NM_022837 "CCDS58745|CCDS33352" Q96AH0 MGI:1923258 RGD:1306658 612103 330748 HGNC:26232 "ENST00000425611.9|NM_001031716.5" HGNC:28412 NABP2 nucleic acid binding protein 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "MGC2731|SSB1|hSSB1|SOSS-B1" "single strand DNA-binding protein 1|sensor of single-strand DNA complex subunit B1" OBFC2B oligonucleotide/oligosaccharide-binding fold containing 2B 2006-01-17 2012-06-19 2012-06-19 2023-01-20 79035 ENSG00000139579 OTTHUMG00000152527 uc001ski.4 BC006171 NM_024068 CCDS8911 Q9BQ15 MGI:1917167 RGD:1308158 612104 HGNC:28412 "ENST00000267023.9|NM_024068.4" -HGNC:7629 NACA nascent polypeptide associated complex subunit alpha protein-coding gene gene with protein product Approved 12q23-q24.1 12q23-q24.1 "NACA1|Alpha-NAC" nascent-polypeptide-associated complex alpha polypeptide 1995-05-18 2018-04-23 2023-05-24 4666 ENSG00000196531 OTTHUMG00000170033 uc001smc.3 X80909 NM_005594 "CCDS31837|CCDS44925|CCDS91708" "E9PAV3|Q13765" 8047162 MGI:106095 RGD:1308642 601234 HGNC:7629 "ENST00000454682.6|NM_001365896.1" +HGNC:7629 NACA nascent polypeptide associated complex subunit alpha protein-coding gene gene with protein product Approved 12q23-q24.1 12q23-q24.1 "NACA1|Alpha-NAC" nascent-polypeptide-associated complex alpha polypeptide 1995-05-18 2018-04-23 2023-05-24 4666 ENSG00000196531 OTTHUMG00000170033 uc001smc.3 X80909 NM_005594 "CCDS91708|CCDS31837|CCDS44925" "E9PAV3|Q13765" 8047162 MGI:106095 RGD:1308642 601234 HGNC:7629 "ENST00000454682.6|NM_001365896.1" HGNC:23290 NACA2 nascent polypeptide associated complex subunit alpha 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 MGC71999 alpha-NAC protein NACAL nascent-polypeptide-associated complex alpha polypeptide-like 2005-04-07 2007-04-20 2018-04-23 2023-01-20 342538 ENSG00000253506 OTTHUMG00000132321 uc002izj.3 BC062710 NM_199290 CCDS11630 Q9H009 12406326 609274 HGNC:23290 "ENST00000521764.3|NM_199290.4" HGNC:33442 NACA3P NACA family member 3, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 NACA3 NACA family member 3 pseudogene 2007-04-20 2018-05-23 2018-05-23 389240 ENSG00000121089 OTTHUMG00000161263 NG_005843 PGOHUM00000250798 HGNC:33442 HGNC:24688 NACA4P NACA family member 4, pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 FKSG17 NACAP1 "nascent-polypeptide-associated complex alpha polypeptide pseudogene 1|nascent polypeptide associated complex alpha subunit pseudogene 1|NACA pseudogene 1" 2005-09-02 2018-05-23 2018-05-23 2018-05-23 83955 ENSG00000228224 OTTHUMG00000164829 AF315951 NR_002182 Q9BZK3 PGOHUM00000303638 HGNC:24688 @@ -22078,11 +22080,11 @@ HGNC:53906 NACAP10 NACA pseudogene 10 pseudogene pseudogene Approved 8q13.2 08q1 HGNC:20967 NACC1 nucleus accumbens associated 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "NAC1|NAC-1|BEND8|BTBD30" "nucleus accumbens associated 1|BEN domain containing 8" BTBD14B "BTB (POZ) domain containing 14B|nucleus accumbens associated 1, BEN and BTB (POZ) domain containing" "BEN domain containing|BTB domain containing" "422|861" 2003-12-15 2008-10-03 2016-02-12 2023-01-20 112939 ENSG00000160877 OTTHUMG00000180748 uc002mwm.5 AF395817 NM_052876 CCDS12294 Q96RE7 28132692 MGI:1914080 RGD:621003 610672 HGNC:20967 "ENST00000292431.5|NM_052876.4" HGNC:20967 HGNC:23846 NACC2 NACC family member 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MGC23427|BEND9|BTBD31" BEN domain containing 9 BTBD14A "BTB (POZ) domain containing 14A|NACC family member 2, BEN and BTB (POZ) domain containing" "BEN domain containing|BTB domain containing" "422|861" 2003-12-15 2008-10-03 2016-02-12 2023-01-20 138151 ENSG00000148411 OTTHUMG00000020921 uc004cgv.4 BC015649 NM_144653 CCDS6993 Q96BF6 12477932 MGI:1915241 RGD:1309292 615786 HGNC:23846 "ENST00000277554.4|NM_144653.5" HGNC:29831 NADK NAD kinase protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "FLJ13052|NADK1" 2005-04-26 2023-05-24 65220 ENSG00000008130 OTTHUMG00000000942 uc001aid.5 BC001709 NM_023018 "CCDS30565|CCDS55562|CCDS55561" O95544 11594753 MGI:2183149 RGD:1642420 611616 2.7.1.23 HGNC:29831 "ENST00000341426.9|NM_023018.5" -HGNC:26404 NADK2 NAD kinase 2, mitochondrial protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "FLJ30596|MNADK" mitochondrial NAD kinase "C5orf33|NADKD1" "chromosome 5 open reading frame 33|NAD kinase domain containing 1" 2006-08-25 2013-04-30 2013-04-30 2023-01-20 133686 ENSG00000152620 OTTHUMG00000131105 BC062567 NM_153013 "CCDS3917|CCDS47197|CCDS75235" Q4G0N4 23616928 MGI:1915896 RGD:1306809 615787 434216 2.7.1.23 HGNC:26404 "ENST00000381937.9|NM_001085411.3" HGNC:26404 +HGNC:26404 NADK2 NAD kinase 2, mitochondrial protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "FLJ30596|MNADK" mitochondrial NAD kinase "C5orf33|NADKD1" "chromosome 5 open reading frame 33|NAD kinase domain containing 1" 2006-08-25 2013-04-30 2013-04-30 2023-01-20 133686 ENSG00000152620 OTTHUMG00000131105 BC062567 NM_153013 "CCDS75235|CCDS47197|CCDS3917" Q4G0N4 23616928 MGI:1915896 RGD:1306809 615787 434216 2.7.1.23 HGNC:26404 "ENST00000381937.9|NM_001085411.3" HGNC:26404 HGNC:41143 NADK2-AS1 NADK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 NADKD1-AS1 NADKD1 antisense RNA 1 Antisense RNAs 1987 2012-10-01 2013-04-30 2013-04-30 2014-11-19 101056700 ENSG00000245711 OTTHUMG00000162149 BC033402 NR_170324 NADK2-AS1 HGNC:29832 NADSYN1 NAD synthetase 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FLJ10631 MicroRNA protein coding host genes 1691 2005-09-09 2023-01-20 55191 ENSG00000172890 OTTHUMG00000167375 uc001oqn.4 AB091316 NM_018161 CCDS8201 Q6IA69 12547821 MGI:1926164 RGD:727801 608285 HGNC:29832 "ENST00000319023.7|NM_018161.5" HGNC:29832 -HGNC:621 NAE1 NEDD8 activating enzyme E1 subunit 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "ula-1|APP-BP1" APPBP1 amyloid beta precursor protein binding protein 1, 59kDa Ubiquitin like modifier activating enzymes 100 1999-01-13 2007-12-11 2007-12-11 2023-01-20 8883 ENSG00000159593 OTTHUMG00000137513 uc002eqf.4 U50939 NM_003905 "CCDS42171|CCDS10820|CCDS67050|CCDS42172" Q13564 "8626687|12740388" MGI:2384561 RGD:619945 603385 HGNC:621 "ENST00000290810.8|NM_003905.4" -HGNC:25126 NAF1 nuclear assembly factor 1 ribonucleoprotein protein-coding gene gene with protein product Approved 4q32.2 04q32.2 nuclear assembly factor 1 homolog (S. cerevisiae) Ribosomal biogenesis factors 1729 2008-02-26 2013-03-05 2023-01-20 92345 ENSG00000145414 OTTHUMG00000161370 uc003iqj.4 NM_138386 "CCDS3803|CCDS47159" Q96HR8 "16618814|16601202" MGI:2682306 RGD:1306802 617868 HGNC:25126 "ENST00000274054.3|NM_138386.3" +HGNC:621 NAE1 NEDD8 activating enzyme E1 subunit 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "ula-1|APP-BP1" APPBP1 amyloid beta precursor protein binding protein 1, 59kDa Ubiquitin like modifier activating enzymes 100 1999-01-13 2007-12-11 2007-12-11 2023-01-20 8883 ENSG00000159593 OTTHUMG00000137513 uc002eqf.4 U50939 NM_003905 "CCDS10820|CCDS42171|CCDS42172|CCDS67050" Q13564 "8626687|12740388" MGI:2384561 RGD:619945 603385 HGNC:621 "ENST00000290810.8|NM_003905.4" +HGNC:25126 NAF1 nuclear assembly factor 1 ribonucleoprotein protein-coding gene gene with protein product Approved 4q32.2 04q32.2 nuclear assembly factor 1 homolog (S. cerevisiae) Ribosomal biogenesis factors 1729 2008-02-26 2013-03-05 2023-01-20 92345 ENSG00000145414 OTTHUMG00000161370 uc003iqj.4 NM_138386 "CCDS47159|CCDS3803" Q96HR8 "16618814|16601202" MGI:2682306 RGD:1306802 617868 HGNC:25126 "ENST00000274054.3|NM_138386.3" HGNC:7631 NAGA alpha-N-acetylgalactosaminidase protein-coding gene gene with protein product Approved 22q13.2 22q13.2 D22S674 alpha-galactosidase B N-acetylgalactosaminidase, alpha- Galactosidases alpha 1655 1986-01-01 2016-05-12 2023-01-20 4668 ENSG00000198951 OTTHUMG00000151276 uc003bbw.5 NM_000262 CCDS14030 P17050 MGI:1261422 RGD:1306025 104170 123669 3.2.1.49 HGNC:7631 "ENST00000396398.8|NM_000262.3" HGNC:7631 HGNC:17174 NAGK N-acetylglucosamine kinase protein-coding gene gene with protein product Approved 2p13.3 02p13.3 GNK 2001-11-16 2023-01-20 55577 ENSG00000124357 OTTHUMG00000153239 uc061kll.1 AJ242910 NM_001330425 "CCDS82466|CCDS33220" Q9UJ70 10824116 MGI:1860418 RGD:1305057 606828 2.7.1.59 HGNC:17174 "ENST00000244204.11|NM_017567.6" HGNC:7632 NAGLU N-acetyl-alpha-glucosaminidase protein-coding gene gene with protein product Approved 17q21.2 17q21.2 NAG Sanfilippo disease IIIB N-acetylglucosaminidase, alpha Glycoside hydrolases 1650 1995-09-15 2016-04-01 2023-01-20 4669 ENSG00000108784 OTTHUMG00000180240 uc002hzv.4 NM_000263 CCDS11427 P54802 MGI:1351641 RGD:1564228 609701 123672 3.2.1.50 HGNC:7632 "ENST00000225927.7|NM_000263.4" HGNC:7632 @@ -22090,24 +22092,24 @@ HGNC:17378 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminid HGNC:44184 NAGPA-AS1 NAGPA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 NAGPA antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100507589 AK055222 NR_038913 NAGPA-AS1 HGNC:44184 HGNC:17996 NAGS N-acetylglutamate synthase protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "AGAS|ARGA|NAT7" GCN5 related N-acetyltransferases 1134 2004-12-03 2023-01-20 162417 ENSG00000161653 OTTHUMG00000181802 uc002ies.4 AY116537 NM_153006 CCDS11473 Q8N159 "15050968|12459178" MGI:2387600 RGD:1565783 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NAGS 608300 123675 HGNC:17996 "ENST00000293404.8|NM_153006.3" HGNC:17996 HGNC:25446 NAIF1 nuclear apoptosis inducing factor 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "DKFZp762G199|bA379C10.2" nuclear apoptosis-inducing factor 1 C9orf90 chromosome 9 open reading frame 90 2004-02-19 2008-04-10 2008-04-10 2023-01-20 203245 ENSG00000171169 OTTHUMG00000020727 uc004bta.4 AK122729 NM_197956 CCDS6889 Q69YI7 "14702039|16378748" MGI:1918504 RGD:1597546 610673 HGNC:25446 "ENST00000373078.5|NM_197956.4" -HGNC:7634 NAIP NLR family apoptosis inhibitory protein protein-coding gene gene with protein product Approved 5q13.2 05q13.2 NLRB1 "nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1|NLR family, BIR domain containing 1" BIRC1 baculoviral IAP repeat-containing 1 "Baculoviral IAP repeat containing|NLR family" "419|666" 1998-05-14 2006-12-08 2016-06-01 2023-01-20 4671 ENSG00000249437 OTTHUMG00000163318 uc003kar.2 U19251 NM_004536 "CCDS4009|CCDS43327" Q13075 7813013 "MGI:1298220|MGI:1298222|MGI:1298223|MGI:1298226" RGD:621281 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 600355 123680 I32.001 objectId:2793 HGNC:7634 "ENST00000517649.6|NM_004536.3" +HGNC:7634 NAIP NLR family apoptosis inhibitory protein protein-coding gene gene with protein product Approved 5q13.2 05q13.2 NLRB1 "nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1|NLR family, BIR domain containing 1" BIRC1 baculoviral IAP repeat-containing 1 "Baculoviral IAP repeat containing|NLR family" "419|666" 1998-05-14 2006-12-08 2016-06-01 2023-01-20 4671 ENSG00000249437 OTTHUMG00000163318 uc003kar.2 U19251 NM_004536 "CCDS43327|CCDS4009" Q13075 7813013 "MGI:1298220|MGI:1298222|MGI:1298223|MGI:1298226" RGD:621281 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 600355 123680 I32.001 objectId:2793 HGNC:7634 "ENST00000517649.6|NM_004536.3" HGNC:54492 NAIPP1 NAIP pseudogene 1 pseudogene pseudogene Approved 5q13.2 05q13.2 2019-08-28 2019-08-28 728535 ENSG00000250687 OTTHUMG00000162475 NG_006114 PGOHUM00000300995 HGNC:54492 HGNC:16042 NAIPP2 NAIP pseudogene 2 pseudogene pseudogene Approved 5q13.2 05q13.2 "BIRC|NAIP1B" 2019-08-28 2019-08-28 728519 ENSG00000179978 OTTHUMG00000162450 NG_008752 "9503025|10369862" PGOHUM00000300616 HGNC:16042 HGNC:54493 NAIPP3 NAIP pseudogene 3 pseudogene pseudogene Approved 5q13.2 05q13.2 2019-08-28 2019-08-28 643784 ENSG00000248477 OTTHUMG00000162451 NG_006087 PGOHUM00000300986 HGNC:54493 HGNC:54494 NAIPP4 NAIP pseudogene 4 pseudogene pseudogene Approved 5q13.2 05q13.2 2019-08-28 2020-11-11 653406 ENSG00000251634 OTTHUMG00000099405 NG_006112 PGOHUM00000300625 HGNC:54494 -HGNC:19082 NALCN sodium leak channel, non-selective protein-coding gene gene with protein product Approved 13q32.3-q33.1 13q32.3-q33.1 "bA430M15.1|CanIon" VGCNL1 voltage gated channel like 1 Sodium leak channels, non selective 283 2002-08-09 2007-04-26 2016-02-05 2023-01-20 259232 ENSG00000102452 OTTHUMG00000017295 uc001vox.2 AY141972 NM_052867 "CCDS9498|CCDS91831|CCDS91832" Q8IZF0 17448995 MGI:2444306 RGD:628710 611549 376877 objectId:750 HGNC:19082 "ENST00000251127.11|NM_052867.4" HGNC:19082 +HGNC:19082 NALCN sodium leak channel, non-selective protein-coding gene gene with protein product Approved 13q32.3-q33.1 13q32.3-q33.1 "bA430M15.1|CanIon" VGCNL1 voltage gated channel like 1 Sodium leak channels, non selective 283 2002-08-09 2007-04-26 2016-02-05 2023-01-20 259232 ENSG00000102452 OTTHUMG00000017295 uc001vox.2 AY141972 NM_052867 "CCDS91831|CCDS9498|CCDS91832" Q8IZF0 17448995 MGI:2444306 RGD:628710 611549 376877 objectId:750 HGNC:19082 "ENST00000251127.11|NM_052867.4" HGNC:19082 HGNC:42743 NALCN-AS1 NALCN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 NALCN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-18 2012-08-15 2016-10-05 100885778 ENSG00000233009 OTTHUMG00000017294 uc031qnb.1 NR_047687 NALCN-AS1 HGNC:42743 HGNC:33877 NALF1 NALCN channel auxiliary factor 1 protein-coding gene gene with protein product Approved 13q33.3 13q33.3 NLF-1 FAM155A family with sequence similarity 155 member A MicroRNA protein coding host genes 1691 2008-04-15 2021-04-16 2021-04-16 2023-01-20 728215 ENSG00000204442 OTTHUMG00000017326 uc001vql.4 L10374 NM_001080396 CCDS32006 B1AL88 "24639627|32494638|32698188" MGI:2142765 RGD:1559498 619899 HGNC:33877 "ENST00000375915.4|NM_001080396.3" HGNC:41503 NALF1-IT1 NALF1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 FAM155A-IT1 "FAM155A intronic transcript 1 (non-protein coding)|FAM155A intronic transcript 1" Intronic transcripts 1989 2011-08-15 2021-04-16 2021-04-16 2021-04-16 100874375 ENSG00000227248 OTTHUMG00000017327 uc001vqm.5 NR_046848 FAM155A-IT1 HGNC:41503 HGNC:30701 NALF2 NALCN channel auxiliary factor 2 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 TED "TMEM28|CXorf63|FAM155B" "transmembrane protein 28|chromosome X open reading frame 63|family with sequence similarity 155 member B" 2004-06-02 2021-04-16 2021-04-16 2023-01-20 27112 ENSG00000130054 OTTHUMG00000021756 uc004dxk.4 AF087142 NM_015686 CCDS35317 O75949 MGI:3648377 RGD:1584125 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM155B HGNC:30701 "ENST00000252338.5|NM_015686.3" HGNC:51192 NALT1 NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 TCONS_l2_00029132 "MIR4674HG|LINC01573" "MIR4674 host gene (non-protein coding)|long intergenic non-protein coding RNA 1573" Long non-coding RNAs with non-systematic symbols 1992 2014-08-01 2015-09-18 2017-12-06 2018-08-24 101928483 ENSG00000237886 OTTHUMG00000020933 NR_121577 26330272 NALT1 HGNC:51192 -HGNC:42408 NAMA non-protein coding RNA, associated with MAP kinase pathway and growth arrest non-coding RNA RNA, long non-coding Approved 9q22.33 09q22.33 Long non-coding RNAs with non-systematic symbols 1992 2011-08-02 2020-04-20 100996569 ENSG00000271086 uc004azm.3 DQ673922 NR_102270 17415708 HGNC:42408 +HGNC:42408 NAMA non-protein coding RNA, associated with MAP kinase pathway and growth arrest non-coding RNA RNA, long non-coding Approved 9q22.33 09q22.33 Long non-coding RNAs with non-systematic symbols 1992 2011-08-02 2020-04-20 100996569 ENSG00000271086 uc004azm.3 DQ673922 NR_102270 17415708 620412 HGNC:42408 HGNC:30092 NAMPT nicotinamide phosphoribosyltransferase protein-coding gene gene with protein product Approved 7q22.3 07q22.3 PBEF visfatin PBEF1 pre-B-cell colony enhancing factor 1 2004-02-02 2008-03-27 2008-03-27 2023-03-15 10135 ENSG00000105835 OTTHUMG00000140388 uc003vdq.4 U02020 NM_182790 CCDS5737 P43490 8289818 MGI:1929865 RGD:631365 608764 HGNC:30092 "ENST00000222553.8|NM_005746.3" HGNC:56696 NAMPT-AS1 NAMPT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 AC007032.1 Antisense RNAs 1987 2023-01-13 2023-01-13 128266843 ENSG00000273320 33509158 HGNC:17633 NAMPTP1 nicotinamide phosphoribosyltransferase pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 bA92J19.4 "PBEF2|NAMPTL" "pre-B-cell colony enhancing factor 2|nicotinamide phosphoribosyltransferase-like" 2004-05-27 2014-10-01 2014-10-01 2014-10-01 646309 ENSG00000229644 OTTHUMG00000017964 NG_005593 8289818 HGNC:17633 HGNC:51314 NAMPTP2 nicotinamide phosphoribosyltransferase pseudogene 2 pseudogene pseudogene Approved 5q31.3 05q31.3 2014-10-01 2014-10-01 100132712 ENSG00000249229 OTTHUMG00000163347 NG_021864 HGNC:51314 HGNC:51313 NAMPTP3 nicotinamide phosphoribosyltransferase pseudogene 3 pseudogene pseudogene Approved 16p11.2 16p11.2 2014-10-01 2014-10-01 2017-03-10 106480319 ENSG00000261053 OTTHUMG00000176226 NG_044420 PGOHUM00000293828 HGNC:51313 -HGNC:20857 NANOG Nanog homeobox protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "FLJ12581|FLJ40451" NKL subclass homeoboxes and pseudogenes 519 2003-09-10 2023-01-20 79923 ENSG00000111704 OTTHUMG00000166019 uc009zfy.2 AB093576 NM_024865 "CCDS73436|CCDS31736" Q9H9S0 "12787505|12787504" MGI:1919200 RGD:1303178 607937 8536 HGNC:20857 "ENST00000229307.9|NM_024865.4" +HGNC:20857 NANOG Nanog homeobox protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "FLJ12581|FLJ40451" NKL subclass homeoboxes and pseudogenes 519 2003-09-10 2023-01-20 79923 ENSG00000111704 OTTHUMG00000166019 uc009zfy.2 AB093576 NM_024865 "CCDS31736|CCDS73436" Q9H9S0 "12787505|12787504" MGI:1919200 RGD:1303178 607937 8536 HGNC:20857 "ENST00000229307.9|NM_024865.4" HGNC:24958 NANOGNB NANOG neighbor homeobox protein-coding gene gene with protein product Approved 12p13.31 12p13.31 homeobox C14 2010-06-25 2010-07-08 2023-01-20 360030 ENSG00000205857 OTTHUMG00000165107 uc009zfx.2 NM_001145465 CCDS44826 Q7Z5D8 21679462 9099 HGNC:24958 "ENST00000382119.1|NM_001145465.1" HGNC:42158 NANOGNBP1 NANOGNB pseudogene 1 pseudogene pseudogene Approved 2q11.2 02q11.2 2011-06-02 2012-03-15 100859926 ENSG00000226034 OTTHUMG00000153162 NG_031948 PGOHUM00000240818 HGNC:42158 HGNC:42159 NANOGNBP2 NANOGNB pseudogene 2 pseudogene pseudogene Approved 12q24.33 12q24.33 2011-06-02 2011-06-02 101060006 ENSG00000256563 OTTHUMG00000167935 NG_046626 PGOHUM00000239619 HGNC:42159 @@ -22128,7 +22130,7 @@ HGNC:23292 NANOS2 nanos C2HC-type zinc finger 2 protein-coding gene gene with pr HGNC:22048 NANOS3 nanos C2HC-type zinc finger 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "NANOS1L|NOS3|ZC2HC12C" nanos homolog 3 (Drosophila) Zinc fingers C2HC-type 66 2003-12-01 2016-06-01 2023-01-20 342977 ENSG00000187556 OTTHUMG00000181850 uc002mxj.5 BM702754 NM_001098622 CCDS42511 P60323 MGI:2675387 RGD:1306672 608229 470784 HGNC:22048 "ENST00000339133.6|NM_001098622.3" HGNC:16140 NANP N-acetylneuraminic acid phosphatase protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ694B14.3|MGC26833" "C20orf147|HDHD4" "chromosome 20 open reading frame 147|haloacid dehalogenase-like hydrolase domain containing 4" "HAD Asp-based non-protein phosphatases|Haloacid dehalogenase like hydrolase domain containing" "1045|1377" 2001-07-17 2006-01-24 2006-01-24 2023-01-20 140838 ENSG00000170191 OTTHUMG00000032132 uc002wuy.5 AL031673 NM_152667 CCDS13173 Q8TBE9 16237198 MGI:1914561 RGD:1306009 610763 3.1.3.29 HGNC:16140 "ENST00000304788.4|NM_152667.3" HGNC:19237 NANS N-acetylneuraminate synthase protein-coding gene gene with protein product Approved 9q22.33 09q22.33 SAS sialic acid synthase N-acetylneuraminic acid synthase 2002-12-16 2015-11-27 2023-01-20 54187 ENSG00000095380 OTTHUMG00000020341 uc004ayc.4 AF161387 NM_018946 CCDS6733 Q9NR45 "10749855|27213289" MGI:2149820 RGD:1311943 605202 459340 "2.5.1.56|2.5.1.57" HGNC:19237 "ENST00000210444.6|NM_018946.4" HGNC:19237 -HGNC:7637 NAP1L1 nucleosome assembly protein 1 like 1 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "NRP|NAP1|NAP1L|MGC8688|MGC23410" nucleosome assembly protein 1-like 1 1996-09-03 2016-03-10 2023-01-20 4673 ENSG00000187109 OTTHUMG00000169786 uc001sxx.3 NM_139207 "CCDS81715|CCDS76581|CCDS9013" P55209 8297347 MGI:1855693 RGD:71094 164060 HGNC:7637 "ENST00000618691.5|NM_004537.7" +HGNC:7637 NAP1L1 nucleosome assembly protein 1 like 1 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "NRP|NAP1|NAP1L|MGC8688|MGC23410" nucleosome assembly protein 1-like 1 1996-09-03 2016-03-10 2023-01-20 4673 ENSG00000187109 OTTHUMG00000169786 uc001sxx.3 NM_139207 "CCDS76581|CCDS9013|CCDS81715" P55209 8297347 MGI:1855693 RGD:71094 164060 HGNC:7637 "ENST00000618691.5|NM_004537.7" HGNC:38004 NAP1L1P1 nucleosome assembly protein 1 like 1 pseudogene 1 pseudogene pseudogene Approved 11q24.2 11q24.2 nucleosome assembly protein 1-like 1 pseudogene 1 2010-03-17 2016-03-10 2016-03-10 729561 ENSG00000254759 OTTHUMG00000165873 NG_021838 PGOHUM00000261126 HGNC:38004 HGNC:38005 NAP1L1P2 nucleosome assembly protein 1 like 1 pseudogene 2 pseudogene pseudogene Approved Yp11.2 Yp11.2 nucleosome assembly protein 1-like 1 pseudogene 2 2010-03-17 2016-03-10 2016-10-05 100128894 ENSG00000229163 OTTHUMG00000036154 NG_021905 PGOHUM00000261822 HGNC:38005 HGNC:38007 NAP1L1P3 nucleosome assembly protein 1 like 1 pseudogene 3 pseudogene pseudogene Approved 3q13.33 03q13.33 nucleosome assembly protein 1-like 1 pseudogene 3 2010-03-18 2016-03-10 2016-03-10 100130335 ENSG00000213371 OTTHUMG00000159666 NG_022267 PGOHUM00000238149 HGNC:38007 @@ -22143,7 +22145,7 @@ HGNC:56578 NAP1L5P1 NAP1L5 pseudogene 1 pseudogene pseudogene Approved 3q26.31 0 HGNC:31706 NAP1L6P nucleosome assembly protein 1 like 6, pseudogene pseudogene pseudogene Approved Xq13.2 Xq13.2 "FLJ33596|lncNAP1L6" NAP1L6 "nucleosome assembly protein 1-like 6|nucleosome assembly protein 1 like 6" 2006-07-04 2019-07-17 2019-07-17 2022-12-19 645996 ENSG00000204118 OTTHUMG00000021826 uc004ebh.2 AK090915 NR_027291 A6NFF2 36195720 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NAP1L6 HGNC:31706 HGNC:7641 NAPA NSF attachment protein alpha protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "alpha SNAP|alpha soluble NSF attachment protein" N-ethylmaleimide-sensitive factor attachment protein, alpha 1998-12-17 2015-12-16 2023-01-20 8775 ENSG00000105402 OTTHUMG00000183294 uc002pha.3 U39412 NM_003827 CCDS12702 P54920 9269766 MGI:104563 RGD:620855 603215 HGNC:7641 "ENST00000263354.8|NM_003827.4" HGNC:44118 NAPA-AS1 NAPA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.32-q13.33 19q13.32-q13.33 NAPA antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2020-10-09 100505681 ENSG00000268061 OTTHUMG00000183420 uc021uwo.2 AK057858 NR_038452 NAPA-AS1 HGNC:44118 -HGNC:15751 NAPB NSF attachment protein beta protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "SNAP-BETA|SNAPB" beta soluble NSF attachment protein N-ethylmaleimide-sensitive factor attachment protein, beta 2001-05-30 2015-12-16 2023-01-20 63908 ENSG00000125814 OTTHUMG00000032062 uc002wta.4 AK022817 NM_022080 "CCDS63241|CCDS74710|CCDS13152|CCDS63242" Q9H115 8455721 MGI:104562 RGD:1589649 611270 HGNC:15751 "ENST00000377026.4|NM_022080.3" +HGNC:15751 NAPB NSF attachment protein beta protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "SNAP-BETA|SNAPB" beta soluble NSF attachment protein N-ethylmaleimide-sensitive factor attachment protein, beta 2001-05-30 2015-12-16 2023-01-20 63908 ENSG00000125814 OTTHUMG00000032062 uc002wta.4 AK022817 NM_022080 "CCDS13152|CCDS74710|CCDS63241|CCDS63242" Q9H115 8455721 MGI:104562 RGD:1589649 611270 HGNC:15751 "ENST00000377026.4|NM_022080.3" HGNC:21683 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FMP30|C7orf18|NAPE-PLD" chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D Metallo-beta-lactamase fold containing family 1613 2008-01-10 2023-01-20 222236 ENSG00000161048 OTTHUMG00000157204 uc003vbc.3 "BC037350|AY357337" NM_198990 CCDS5729 Q6IQ20 "14634025|15820312|18067139" MGI:2140885 RGD:735197 612334 objectId:1398 3.1.4.54 HGNC:21683 "ENST00000465647.6|NM_001122838.3" HGNC:7642 NAPG NSF attachment protein gamma protein-coding gene gene with protein product Approved 18p11.22 18p11.22 gamma SNAP N-ethylmaleimide-sensitive factor attachment protein, gamma 1998-12-17 2016-02-01 2023-01-20 8774 ENSG00000134265 OTTHUMG00000179119 uc002kon.4 U78107 NM_003826 CCDS45827 Q99747 9269766 MGI:104561 RGD:1310109 603216 HGNC:7642 "ENST00000322897.11|NM_003826.3" HGNC:45165 NAPGP1 N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 1 pseudogene pseudogene Approved 10q23.31 10q23.31 2013-02-28 2016-08-16 100288843 ENSG00000271408 OTTHUMG00000184643 NG_022185 PGOHUM00000290239 HGNC:45165 @@ -22151,29 +22153,29 @@ HGNC:45166 NAPGP2 N-ethylmaleimide-sensitive factor attachment protein, gamma ps HGNC:30450 NAPRT nicotinate phosphoribosyltransferase protein-coding gene gene with protein product Approved 8q24.3 08q24.3 PP3856 NAPRT1 nicotinate phosphoribosyltransferase domain containing 1 2005-08-11 2014-06-26 2014-06-26 2023-01-20 93100 ENSG00000147813 OTTHUMG00000156942 AF258565 NM_145201 "CCDS69555|CCDS6403" Q6XQN6 "17604275|21742010" MGI:2442664 RGD:1302945 611552 6.3.4.21 HGNC:30450 "ENST00000449291.7|NM_145201.6" HGNC:13395 NAPSA napsin A aspartic peptidase protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "NAP1|NAPA|Kdap|KAP" kidney-derived aspartic protease-like protein Peptidase family A1 1928 2004-06-09 2023-01-20 9476 ENSG00000131400 OTTHUMG00000183035 uc002prx.4 AF090386 NM_004851 CCDS12794 O96009 MGI:109365 RGD:61940 605631 A01.046 HGNC:13395 "ENST00000253719.7|NM_004851.3" HGNC:13396 NAPSB napsin B aspartic peptidase, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 "NAP1L|NAP2|NAPB|NAPSBP" Peptidase family A1 1928 2004-06-09 2012-08-22 2014-11-19 256236 ENSG00000131401 OTTHUMG00000166192 AF090387 XR_000169 "9877162|10591213" PGOHUM00000263659 A01.P01 HGNC:13396 -HGNC:29916 NARF nuclear prelamin A recognition factor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ10067|DKFZp434G0420|IOP2" iron-only hydrogenase-like protein 2 2005-11-22 2023-01-20 26502 ENSG00000141562 OTTHUMG00000178844 uc002kfg.5 BC000438 NM_031968 "CCDS42404|CCDS32777|CCDS42403" Q9UHQ1 "10514485|15667261" MGI:1914858 RGD:1310894 605349 HGNC:29916 "ENST00000309794.16|NM_012336.4" +HGNC:29916 NARF nuclear prelamin A recognition factor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ10067|DKFZp434G0420|IOP2" iron-only hydrogenase-like protein 2 2005-11-22 2023-01-20 26502 ENSG00000141562 OTTHUMG00000178844 uc002kfg.5 BC000438 NM_031968 "CCDS32777|CCDS42403|CCDS42404" Q9UHQ1 "10514485|15667261" MGI:1914858 RGD:1310894 605349 HGNC:29916 "ENST00000309794.16|NM_012336.4" HGNC:53622 NARF-AS1 NARF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 ENST00000582249.1 Antisense RNAs 1987 2017-07-26 2017-07-26 111082991 ENSG00000266445 OTTHUMG00000178839 BQ877948 28732507 HGNC:55327 NARF-AS2 NARF antisense RNA 2 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Antisense RNAs 1987 2020-10-21 2020-10-21 2020-10-21 2020-10-21 105371941 ENSG00000265458 NR_184098 HGNC:43651 NARF-IT1 NARF intronic transcript 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 NARF-OT1 "NARF overlapping transcript 1 (non-protein coding)|NARF intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2011-12-19 2013-02-20 2015-02-25 2016-11-11 100506001 ENSG00000266236 OTTHUMG00000178846 uc060mci.1 HGNC:7643 NARS1 asparaginyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 AsnRS asparagine tRNA ligase 1, cytoplasmic NARS asparaginyl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 1986-01-01 2019-07-15 2019-07-15 2023-01-20 4677 ENSG00000134440 OTTHUMG00000180125 uc002lgs.4 D84273 NM_004539 CCDS32837 O43776 "6836455|9421509|32738225" MGI:1917473 RGD:1307238 108410 6.1.1.22 HGNC:7643 "ENST00000256854.10|NM_004539.4" HGNC:7643 HGNC:19933 NARS1P1 asparaginyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 "NARSP|NARSP1" "asparaginyl-tRNA synthetase pseudogene|asparaginyl-tRNA synthetase pseudogene 1" 2003-01-13 2019-07-15 2019-07-15 2019-07-15 319127 NG_002505 PGOHUM00000258791 HGNC:19933 HGNC:50481 NARS1P2 asparaginyl-tRNA synthetase 1 pseudogene 2 pseudogene pseudogene Approved 8q12.3 08q12.3 NARSP2 asparaginyl-tRNA synthetase pseudogene 2 2014-05-06 2019-07-15 2019-07-15 2019-07-15 100287895 ENSG00000253789 OTTHUMG00000164342 NG_022421 PGOHUM00000249690 HGNC:50481 -HGNC:26274 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "FLJ23441|SLM5" asparagine tRNA ligase 2, mitochondrial (putative) DFNB94 "deafness, autosomal recessive 94|asparaginyl-tRNA synthetase 2, mitochondrial (putative)" Aminoacyl tRNA synthetases, Class II 132 2006-01-17 2017-09-15 2023-01-20 79731 ENSG00000137513 OTTHUMG00000166702 uc001ozi.3 BC007800 NM_024678 "CCDS8261|CCDS58164" Q96I59 "15779907|25807530" MGI:2142075 RGD:1305145 612803 448718 6.1.1.22 HGNC:26274 "ENST00000281038.10|NM_024678.6" HGNC:26274 -HGNC:7644 NASP nuclear autoantigenic sperm protein protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLB7527|FLJ31599|FLJ35510|MGC19722|MGC20372|MGC2297|DKFZp547F162|PRO1999" NASP histone chaperone nuclear autoantigenic sperm protein (histone-binding) Tetratricopeptide repeat domain containing 769 1993-11-02 2016-03-09 2023-03-15 4678 ENSG00000132780 OTTHUMG00000007826 uc001coi.3 M97856 NM_002482 "CCDS55597|CCDS524|CCDS525" P49321 1426632 MGI:1355328 RGD:1359609 603185 HGNC:7644 "ENST00000350030.8|NM_002482.4" +HGNC:26274 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "FLJ23441|SLM5" asparagine tRNA ligase 2, mitochondrial (putative) DFNB94 "deafness, autosomal recessive 94|asparaginyl-tRNA synthetase 2, mitochondrial (putative)" Aminoacyl tRNA synthetases, Class II 132 2006-01-17 2017-09-15 2023-01-20 79731 ENSG00000137513 OTTHUMG00000166702 uc001ozi.3 BC007800 NM_024678 "CCDS58164|CCDS8261" Q96I59 "15779907|25807530" MGI:2142075 RGD:1305145 612803 448718 6.1.1.22 HGNC:26274 "ENST00000281038.10|NM_024678.6" HGNC:26274 +HGNC:7644 NASP nuclear autoantigenic sperm protein protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLB7527|FLJ31599|FLJ35510|MGC19722|MGC20372|MGC2297|DKFZp547F162|PRO1999" NASP histone chaperone nuclear autoantigenic sperm protein (histone-binding) Tetratricopeptide repeat domain containing 769 1993-11-02 2016-03-09 2023-03-15 4678 ENSG00000132780 OTTHUMG00000007826 uc001coi.3 M97856 NM_002482 "CCDS525|CCDS55597|CCDS524" P49321 1426632 MGI:1355328 RGD:1359609 603185 HGNC:7644 "ENST00000350030.8|NM_002482.4" HGNC:29910 NASPP1 nuclear autoantigenic sperm protein pseudogene 1 pseudogene pseudogene Approved 8q12.2 08q12.2 2004-01-23 2020-06-09 282694 ENSG00000255397 NG_002431 11674998 PGOHUM00000303221 HGNC:29910 -HGNC:7645 NAT1 N-acetyltransferase 1 protein-coding gene gene with protein product Approved 8p22 08p22 arylamine N-acetyltransferase 1 AAC1 N-acetyltransferase 1 (arylamine N-acetyltransferase) Arylamine N-acetyltransferases 1133 1990-09-10 2016-06-21 2023-01-20 9 ENSG00000171428 OTTHUMG00000097001 uc003wyq.4 BC047666 NM_000662 "CCDS55205|CCDS6007" P18440 7773298 "MGI:102537|MGI:109201|MGI:97279" RGD:70490 Arylamine N-Acetyltransferase|http://www.louisville.edu/medschool/pharmacology/NAT.html 108345 2.3.1.5 HGNC:7645 "ENST00000307719.9|NM_000662.8" +HGNC:7645 NAT1 N-acetyltransferase 1 protein-coding gene gene with protein product Approved 8p22 08p22 arylamine N-acetyltransferase 1 AAC1 N-acetyltransferase 1 (arylamine N-acetyltransferase) Arylamine N-acetyltransferases 1133 1990-09-10 2016-06-21 2023-01-20 9 ENSG00000171428 OTTHUMG00000097001 uc003wyq.4 BC047666 NM_000662 "CCDS6007|CCDS55205" P18440 7773298 "MGI:102537|MGI:109201|MGI:97279" RGD:70490 Arylamine N-Acetyltransferase|http://www.louisville.edu/medschool/pharmacology/NAT.html 108345 2.3.1.5 HGNC:7645 "ENST00000307719.9|NM_000662.8" HGNC:7646 NAT2 N-acetyltransferase 2 protein-coding gene gene with protein product Approved 8p22 08p22 arylamine N-acetyltransferase 2 AAC2 N-acetyltransferase 2 (arylamine N-acetyltransferase) Arylamine N-acetyltransferases 1133 1990-09-10 2016-06-21 2023-01-20 10 ENSG00000156006 OTTHUMG00000130826 uc003wyw.2 D90042 NM_000015 CCDS6008 P11245 7773298 "MGI:102537|MGI:109201|MGI:97279" RGD:70492 Arylamine N-Acetyltransferase|http://www.louisville.edu/medschool/pharmacology/NAT.html 612182 241984 2.3.1.5 HGNC:7646 "ENST00000286479.4|NM_000015.3" HGNC:18069 NAT8 N-acetyltransferase 8 (putative) protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "Hcml1|TSC501|GLA|ATase2" "N-acetyltransferase 8|N-acetyltransferase 8 (GCN5-related, putative)" GCN5 related N-acetyltransferases 1134 2002-01-25 2016-02-12 2023-01-20 9027 ENSG00000144035 OTTHUMG00000129818 uc002sji.2 AB013094 NM_003960 CCDS1926 Q9UHE5 "11397015|9852678|19011241" MGI:1915646 RGD:621609 606716 HGNC:18069 "ENST00000272425.4|NM_003960.4" HGNC:30235 NAT8B N-acetyltransferase 8B (putative, gene/pseudogene) protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "Hcml2|NAT8BP|CML2" "N-acetyltransferase 8B (gene/pseudogene)|N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene)" 2006-10-24 2016-02-12 2019-01-10 51471 ENSG00000204872 OTTHUMG00000152811 uc061kqq.2 BC069564 NM_016347 Q9UHF3 "11397015|16395595|19011241" MGI:1915646 RGD:621605 608190 HGNC:30235 HGNC:26742 NAT8L N-acetyltransferase 8 like protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ37478|Hcml3|Shati" N-acetyltransferase 8-like (GCN5-related, putative) GCN5 related N-acetyltransferases 1134 2006-10-24 2016-02-12 2023-01-20 339983 ENSG00000185818 OTTHUMG00000121151 uc003geq.3 AK094797 NM_178557 CCDS3359 Q8N9F0 "11397015|24105954|19807691" MGI:2447776 RGD:1305719 610647 470728 objectId:3144 HGNC:26742 "ENST00000423729.3|NM_178557.4" HGNC:26742 -HGNC:23133 NAT9 N-acetyltransferase 9 (putative) protein-coding gene gene with protein product Approved 17q25.2 17q25.2 DKFZP564C103 "N-acetyltransferase 9|N-acetyltransferase 9 (GCN5-related, putative)" GCN5 related N-acetyltransferases 1134 2005-05-23 2016-02-12 2023-01-20 26151 ENSG00000109065 OTTHUMG00000178870 uc060jpt.1 AK123115 NM_015654 "CCDS77103|CCDS77101|CCDS77102|CCDS11706|CCDS77104|CCDS82199|CCDS82200" Q9BTE0 "14608357|21688147" MGI:1913426 RGD:1307096 2.3.1.- HGNC:23133 "ENST00000357814.8|NM_015654.5" -HGNC:29830 NAT10 N-acetyltransferase 10 protein-coding gene gene with protein product Approved 11p13 11p13 "hALP|FLJ10774|FLJ12179|NET43|KIAA1709|Kre33" "GCN5 related N-acetyltransferases|SSU processome" "1134|1484" 2006-02-20 2016-02-12 2023-01-20 55226 ENSG00000135372 OTTHUMG00000166249 uc001mvk.4 AF489535 NM_024662 "CCDS7889|CCDS44568" Q9H0A0 "14592445|21177859|25653167" MGI:2138939 RGD:1306717 609221 2.3.1.- HGNC:29830 "ENST00000257829.8|NM_024662.3" +HGNC:23133 NAT9 N-acetyltransferase 9 (putative) protein-coding gene gene with protein product Approved 17q25.2 17q25.2 DKFZP564C103 "N-acetyltransferase 9|N-acetyltransferase 9 (GCN5-related, putative)" GCN5 related N-acetyltransferases 1134 2005-05-23 2016-02-12 2023-01-20 26151 ENSG00000109065 OTTHUMG00000178870 uc060jpt.1 AK123115 NM_015654 "CCDS77102|CCDS77103|CCDS11706|CCDS82199|CCDS77101|CCDS77104|CCDS82200" Q9BTE0 "14608357|21688147" MGI:1913426 RGD:1307096 2.3.1.- HGNC:23133 "ENST00000357814.8|NM_015654.5" +HGNC:29830 NAT10 N-acetyltransferase 10 protein-coding gene gene with protein product Approved 11p13 11p13 "hALP|FLJ10774|FLJ12179|NET43|KIAA1709|Kre33" "GCN5 related N-acetyltransferases|SSU processome" "1134|1484" 2006-02-20 2016-02-12 2023-01-20 55226 ENSG00000135372 OTTHUMG00000166249 uc001mvk.4 AF489535 NM_024662 "CCDS44568|CCDS7889" Q9H0A0 "14592445|21177859|25653167" MGI:2138939 RGD:1306717 609221 2.3.1.- HGNC:29830 "ENST00000257829.8|NM_024662.3" HGNC:28918 NAT14 N-acetyltransferase 14 (putative) protein-coding gene gene with protein product Approved 19q13.42 19q13.42 KLP1 K562 cells-derived leucine zipper-like protein 1 "N-acetyltransferase 14|N-acetyltransferase 14 (GCN5-related, putative)" GCN5 related N-acetyltransferases 1134 2006-08-21 2016-02-12 2023-01-20 57106 ENSG00000090971 OTTHUMG00000180854 uc002qle.3 AB055059 NM_020378 CCDS12926 Q8WUY8 10873651 MGI:3039561 RGD:1565991 HGNC:28918 "ENST00000205194.5|NM_020378.4" HGNC:22030 NAT16 N-acetyltransferase 16 (putative) protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ39237 C7orf52 "chromosome 7 open reading frame 52|N-acetyltransferase 16 (GCN5-related, putative)" GCN5 related N-acetyltransferases 1134 2007-07-10 2011-11-25 2016-02-12 2023-01-20 375607 ENSG00000167011 OTTHUMG00000157110 uc003uxy.2 AK096556 NM_198571 CCDS5713 Q8N8M0 24121108 615783 HGNC:22030 "ENST00000300303.7|NM_198571.3" HGNC:30770 NATD1 N-acetyltransferase domain containing 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "MGC33894|Gtlf3b" "transcript expressed during hematopoiesis 2|gene trap locus F3b" C17orf103 chromosome 17 open reading frame 103 2009-03-11 2014-05-29 2014-05-29 2023-03-15 256302 ENSG00000274180 OTTHUMG00000130764 BC029527 NM_152914 Q8N6N6 12477932 MGI:1344388 RGD:1307740 HGNC:30770 "ENST00000611551.1|NM_152914.3" HGNC:15 NATP N-acetyltransferase pseudogene pseudogene pseudogene Approved 8p22 08p22 NATP1 AACP arylamide acetylase pseudogene Arylamine N-acetyltransferases 1133 1992-07-09 2013-08-22 2013-08-22 2014-11-18 11 ENSG00000253937 OTTHUMG00000163710 X17060 NG_004857 "2340091|9284941" PGOHUM00000260428 HGNC:15 -HGNC:15989 NAV1 neuron navigator 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ12560|FLJ14203|KIAA1151|MGC14961|POMFIL3|steerin-1|DKFZp781D0314" "neuron navigator-1|pore membrane and/or filament interacting like protein 3" MicroRNA protein coding host genes 1691 2001-06-29 2023-01-20 89796 ENSG00000134369 OTTHUMG00000035766 uc057oje.1 AF086348 NM_020443 "CCDS91142|CCDS1414|CCDS53456" Q8NEY1 "12079279|12062803" MGI:2183683 RGD:1590261 611628 HGNC:15989 "ENST00000685211.1|NM_001389617.1" -HGNC:15997 NAV2 neuron navigator 2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "FLJ10633|FLJ11030|HELAD1|KIAA1419|POMFIL2|RAINB1|FLJ23707" "pore membrane and/or filament interacting like protein 2|retinoic acid inducible gene in neuroblastoma 1|helicase, APC down-regulated 1" MicroRNA protein coding host genes 1691 2001-06-29 2023-01-20 89797 ENSG00000166833 OTTHUMG00000151837 uc001mpp.4 AB037840 NM_145117 "CCDS7850|CCDS58126|CCDS53612|CCDS7851|CCDS44552" Q8IVL1 "12079279|12062803" MGI:2183691 RGD:619778 607026 3.6.1.1 HGNC:15997 "ENST00000349880.9|NM_145117.5" +HGNC:15989 NAV1 neuron navigator 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ12560|FLJ14203|KIAA1151|MGC14961|POMFIL3|steerin-1|DKFZp781D0314" "neuron navigator-1|pore membrane and/or filament interacting like protein 3" MicroRNA protein coding host genes 1691 2001-06-29 2023-01-20 89796 ENSG00000134369 OTTHUMG00000035766 uc057oje.1 AF086348 NM_020443 "CCDS91142|CCDS53456|CCDS1414" Q8NEY1 "12079279|12062803" MGI:2183683 RGD:1590261 611628 HGNC:15989 "ENST00000685211.1|NM_001389617.1" +HGNC:15997 NAV2 neuron navigator 2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "FLJ10633|FLJ11030|HELAD1|KIAA1419|POMFIL2|RAINB1|FLJ23707" "pore membrane and/or filament interacting like protein 2|retinoic acid inducible gene in neuroblastoma 1|helicase, APC down-regulated 1" MicroRNA protein coding host genes 1691 2001-06-29 2023-01-20 89797 ENSG00000166833 OTTHUMG00000151837 uc001mpp.4 AB037840 NM_145117 "CCDS44552|CCDS53612|CCDS58126|CCDS7851|CCDS7850" Q8IVL1 "12079279|12062803" MGI:2183691 RGD:619778 607026 3.6.1.1 HGNC:15997 "ENST00000349880.9|NM_145117.5" HGNC:40744 NAV2-AS1 NAV2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100874015 ENSG00000254894 OTTHUMG00000167398 uc057zun.1 NAV2-AS1 HGNC:40743 NAV2-AS2 NAV2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100874014 ENSG00000254453 OTTHUMG00000167397 uc057zuj.1 NR_046672 NAV2-AS2 HGNC:40743 HGNC:40742 NAV2-AS3 NAV2 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100874013 ENSG00000254542 OTTHUMG00000167396 uc057zue.1 NR_174949 NAV2-AS3 @@ -22181,14 +22183,14 @@ HGNC:40741 NAV2-AS4 NAV2 antisense RNA 4 non-coding RNA RNA, long non-coding App HGNC:40740 NAV2-AS5 NAV2 antisense RNA 5 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 antisense RNA 5 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100874012 ENSG00000255043 OTTHUMG00000166104 uc031pzi.2 NR_049725 NAV2-AS5 HGNC:40740 HGNC:41416 NAV2-IT1 NAV2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874305 ENSG00000255270 OTTHUMG00000166103 uc057ztt.1 NAV2-IT1 HGNC:15998 NAV3 neuron navigator 3 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "KIAA0938|POMFIL1" "pore membrane and/or filament interacting like protein 1|steerin 3" 2001-06-29 2023-01-20 89795 ENSG00000067798 OTTHUMG00000170001 uc001syo.5 AB023155 NM_001024383 "CCDS41815|CCDS66432" Q8IVL0 "12079279|12062803" MGI:2183703 RGD:1306259 611629 HGNC:15998 "ENST00000397909.7|NM_001024383.2" -HGNC:25576 NAXD NAD(P)HX dehydratase protein-coding gene gene with protein product Approved 13q34 13q34 "LP3298|FLJ10769" ATP-dependent NAD(P)H-hydrate dehydratase CARKD carbohydrate kinase domain containing 2008-08-14 2016-03-09 2016-03-09 2023-01-20 55739 ENSG00000213995 OTTHUMG00000017345 uc001vrc.4 AF151071 NM_018210 "CCDS91836|CCDS55903|CCDS9513|CCDS91835" Q8IW45 21994945 MGI:1913353 RGD:1562691 615910 4.2.1.93 HGNC:25576 "ENST00000680254.1|NM_001242882.2" HGNC:25576 +HGNC:25576 NAXD NAD(P)HX dehydratase protein-coding gene gene with protein product Approved 13q34 13q34 "LP3298|FLJ10769" ATP-dependent NAD(P)H-hydrate dehydratase CARKD carbohydrate kinase domain containing 2008-08-14 2016-03-09 2016-03-09 2023-01-20 55739 ENSG00000213995 OTTHUMG00000017345 uc001vrc.4 AF151071 NM_018210 "CCDS9513|CCDS91836|CCDS55903|CCDS91835" Q8IW45 21994945 MGI:1913353 RGD:1562691 615910 4.2.1.93 HGNC:25576 "ENST00000680254.1|NM_001242882.2" HGNC:25576 HGNC:56341 NAXD-AS1 NAXD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 AL139385.1 Antisense RNAs 1987 2022-09-29 2022-09-29 127138861 ENSG00000275880 NR_182301 35651789 HGNC:18453 NAXE NAD(P)HX epimerase protein-coding gene gene with protein product Approved 1q22 01q22 "AIBP|MGC119143|MGC119144|MGC119145|YJEFN1" "apoA-I binding protein|NAD(P)H-hydrate epimerase" APOA1BP apolipoprotein A-I binding protein 2002-08-01 2016-03-09 2016-03-09 2023-01-20 128240 ENSG00000163382 OTTHUMG00000033206 uc001fph.4 AJ315849 NM_144772 CCDS1145 Q8NCW5 "11991719|17533573|21994945" MGI:2180167 RGD:1304699 608862 5.1.99.6 HGNC:18453 "ENST00000368235.8|NM_144772.3" HGNC:18453 HGNC:15625 NBAS NBAS subunit of NRZ tethering complex protein-coding gene gene with protein product Approved 2p24.3 02p24.3 NAG neuroblastoma amplified sequence NRZ tethering complex 1931 2009-02-16 2019-07-25 2023-01-20 51594 ENSG00000151779 OTTHUMG00000121153 uc002rcc.3 BC051792 NM_015909 CCDS1685 A2RRP1 "9926938|12706883" MGI:1918419 RGD:1585140 608025 394899 HGNC:15625 "ENST00000281513.10|NM_015909.4" HGNC:15625 HGNC:49075 NBAT1 neuroblastoma associated transcript 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 NBAT-1 neuroblastoma associated transcript-1 CASC14 cancer susceptibility candidate 14 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-08-19 2014-12-10 2014-12-10 2019-05-30 729177 ENSG00000260455 OTTHUMG00000175902 NR_034143 "25517750|25859549|26378045|29771423" 616206 NBAT1 HGNC:49075 HGNC:50713 NBDY negative regulator of P-body association protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 NoBody non-annotated P-body dissociating polypeptide LINC01420 long intergenic non-protein coding RNA 1420 2014-06-06 2016-12-15 2016-12-15 2023-01-20 550643 ENSG00000204272 OTTHUMG00000021676 BC048131 NM_001348129 CCDS87751 A0A0U1RRE5 "27918561|33059440" MGI:1917373 300992 HGNC:50713 "ENST00000374922.9|NM_001348129.2" -HGNC:7648 NBEA neurobeachin protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "KIAA1544|BCL8B|FLJ10197|LYST2" "WD repeat domain containing|A-kinase anchoring proteins|BEACH domain containing |Armadillo like helical domain containing" "362|396|1230|1492" 1999-12-16 2023-01-20 26960 ENSG00000172915 OTTHUMG00000016724 uc058wka.1 AF467288 NM_015678 "CCDS91801|CCDS55894|CCDS45026" Q8NFP9 10501977 MGI:1347075 RGD:1562629 LRG_602|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_602.xml 604889 HGNC:7648 "ENST00000379939.7|NM_001385012.1" HGNC:7648 -HGNC:20681 NBEAL1 neurobeachin like 1 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 MGC164581 "ALS2CR17|ALS2CR16" "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16|neurobeachin-like 1" "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 2004-11-26 2015-11-13 2023-03-15 65065 ENSG00000144426 OTTHUMG00000154129 uc002uzt.4 AY172970 NM_001114132 "CCDS46495|CCDS92930" Q6ZS30 15193433 MGI:2444343 RGD:1594799 609816 HGNC:20681 "ENST00000683969.1|NM_001378026.1" +HGNC:7648 NBEA neurobeachin protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "KIAA1544|BCL8B|FLJ10197|LYST2" "WD repeat domain containing|A-kinase anchoring proteins|BEACH domain containing |Armadillo like helical domain containing" "362|396|1230|1492" 1999-12-16 2023-01-20 26960 ENSG00000172915 OTTHUMG00000016724 uc058wka.1 AF467288 NM_015678 "CCDS55894|CCDS45026|CCDS91801" Q8NFP9 10501977 MGI:1347075 RGD:1562629 LRG_602|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_602.xml 604889 HGNC:7648 "ENST00000379939.7|NM_001385012.1" HGNC:7648 +HGNC:20681 NBEAL1 neurobeachin like 1 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 MGC164581 "ALS2CR17|ALS2CR16" "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16|neurobeachin-like 1" "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 2004-11-26 2015-11-13 2023-03-15 65065 ENSG00000144426 OTTHUMG00000154129 uc002uzt.4 AY172970 NM_001114132 "CCDS92930|CCDS46495" Q6ZS30 15193433 MGI:2444343 RGD:1594799 609816 HGNC:20681 "ENST00000683969.1|NM_001378026.1" HGNC:31928 NBEAL2 neurobeachin like 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 KIAA0540 neurobeachin-like 2 "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 2005-03-04 2015-11-13 2023-01-20 23218 ENSG00000160796 OTTHUMG00000156497 uc003cqp.4 AB011112 NM_015175 "CCDS93260|CCDS46817" Q6ZNJ1 "21765412|21765411" MGI:2448554 RGD:1306501 LRG_568|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_568.xml 614169 279603 HGNC:31928 "ENST00000450053.8|NM_015175.3" HGNC:31928 HGNC:1007 NBEAP1 neurobeachin pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 BCL8A BCL8 B-cell CLL/lymphoma 8 1997-04-16 2011-05-03 2011-05-03 2014-11-19 606 ENSG00000258590 OTTHUMG00000171717 NR_027992 P0C6P0 9159141 601889 PGOHUM00000246623 HGNC:1007 HGNC:40003 NBEAP2 neurobeachin pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 BCL8D 2011-05-03 2020-04-24 100418881 ENSG00000197927 NG_023729 12160729 HGNC:40003 @@ -22196,11 +22198,11 @@ HGNC:40004 NBEAP3 neurobeachin pseudogene 3 pseudogene pseudogene Approved 22q11 HGNC:40009 NBEAP4 neurobeachin pseudogene 4 pseudogene pseudogene Approved 15q11.2 15q11.2 2011-05-03 2020-04-23 100418897 ENSG00000258883 NG_025284 PGOHUM00000246634 HGNC:40009 HGNC:40010 NBEAP5 neurobeachin pseudogene 5 pseudogene pseudogene Approved 14q11.2 14q11.2 2011-05-03 2018-05-01 100418903 ENSG00000277710 OTTHUMG00000170506 NG_027242 PGOHUM00000292549 HGNC:40010 HGNC:40011 NBEAP6 neurobeachin pseudogene 6 pseudogene pseudogene Approved 14q11.2 14q11.2 2011-05-03 2020-04-23 100418904 ENSG00000285990 NG_027320 PGOHUM00000248012 HGNC:40011 -HGNC:7650 NBL1 NBL1, DAN family BMP antagonist protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "D1S1733E|NB|DAN|NO3|DAND1" "neuroblastoma candidate region, suppression of tumorigenicity 1|neuroblastoma suppressor of tumorigenicity 1|differential screening-selected gene aberrant in neuroblastoma" "neuroblastoma, suppression of tumorigenicity 1|neuroblastoma 1, DAN family BMP antagonist" DAN family 1246 1997-11-20 2018-05-04 2023-03-15 4681 ENSG00000158747 OTTHUMG00000002700 uc031plk.1 NM_005380 "CCDS41278|CCDS72720" P41271 "7633401|24810382" MGI:104591 RGD:3151 600613 HGNC:7650 "ENST00000375136.8|NM_005380.8" -HGNC:7652 NBN nibrin protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "ATV|AT-V2|AT-V1" "NBS|NBS1" Nijmegen breakage syndrome 1 (nibrin) "BRCA1 C complex|MRN complex" "1336|1344" 1997-11-28 2005-06-02 2005-06-02 2023-01-20 4683 ENSG00000104320 OTTHUMG00000153546 uc003yej.2 AF058696 NM_001024688 "CCDS43753|CCDS6249" O60934 "9590181|9590180" MGI:1351625 RGD:621420 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NBN|LRG_158|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_158.xml" NBN 602667 123688 HGNC:7652 "ENST00000265433.8|NM_002485.5" HGNC:7652 +HGNC:7650 NBL1 NBL1, DAN family BMP antagonist protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "D1S1733E|NB|DAN|NO3|DAND1" "neuroblastoma candidate region, suppression of tumorigenicity 1|neuroblastoma suppressor of tumorigenicity 1|differential screening-selected gene aberrant in neuroblastoma" "neuroblastoma, suppression of tumorigenicity 1|neuroblastoma 1, DAN family BMP antagonist" DAN family 1246 1997-11-20 2018-05-04 2023-03-15 4681 ENSG00000158747 OTTHUMG00000002700 uc031plk.1 NM_005380 "CCDS72720|CCDS41278" P41271 "7633401|24810382" MGI:104591 RGD:3151 600613 HGNC:7650 "ENST00000375136.8|NM_005380.8" +HGNC:7652 NBN nibrin protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "ATV|AT-V2|AT-V1" "NBS|NBS1" Nijmegen breakage syndrome 1 (nibrin) "BRCA1 C complex|MRN complex" "1336|1344" 1997-11-28 2005-06-02 2005-06-02 2023-01-20 4683 ENSG00000104320 OTTHUMG00000153546 uc003yej.2 AF058696 NM_001024688 "CCDS6249|CCDS43753" O60934 "9590181|9590180" MGI:1351625 RGD:621420 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NBN|LRG_158|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_158.xml" NBN 602667 123688 HGNC:7652 "ENST00000265433.8|NM_002485.5" HGNC:7652 HGNC:26088 NBPF1 NBPF member 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "FLJ20719|KIAA1693" neuroblastoma breakpoint family, member 1 NBPF members 662 2005-11-23 2017-03-01 2017-11-27 55672 ENSG00000219481 OTTHUMG00000002487 uc001ayw.5 AB051480 NM_017940 Q3BBV0 "11214970|16079250" 610501 HGNC:26088 HGNC:31987 NBPF2P NBPF member 2, pseudogene pseudogene pseudogene Approved 1p36.12 01p36.12 neuroblastoma breakpoint family, member 2, pseudogene NBPF members 662 2005-11-23 2017-03-01 2017-03-01 343381 ENSG00000227001 OTTHUMG00000002941 NG_005533 16079250 PGOHUM00000243928 HGNC:31987 -HGNC:25076 NBPF3 NBPF member 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 AE2 neuroblastoma breakpoint family, member 3 NBPF members 662 2005-11-23 2017-03-01 2023-01-20 84224 ENSG00000142794 OTTHUMG00000002944 uc001ber.5 BC024011 NM_032264 "CCDS216|CCDS81275|CCDS57976|CCDS57977" Q9H094 "11230166|16079250" 612992 PGOHUM00000295585 HGNC:25076 "ENST00000318249.10|NM_032264.6" +HGNC:25076 NBPF3 NBPF member 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 AE2 neuroblastoma breakpoint family, member 3 NBPF members 662 2005-11-23 2017-03-01 2023-01-20 84224 ENSG00000142794 OTTHUMG00000002944 uc001ber.5 BC024011 NM_032264 "CCDS57977|CCDS57976|CCDS81275|CCDS216" Q9H094 "11230166|16079250" 612992 PGOHUM00000295585 HGNC:25076 "ENST00000318249.10|NM_032264.6" HGNC:26550 NBPF4 NBPF member 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 FLJ32833 neuroblastoma breakpoint family, member 4 NBPF members 662 2005-11-23 2017-03-01 2023-01-20 148545 ENSG00000196427 OTTHUMG00000011318 uc009wen.3 AK057395 NM_152488 CCDS44182 Q96M43 16079250 613994 HGNC:26550 "ENST00000415641.8|NM_001143989.3" HGNC:24491 NBPF5P NBPF member 5, pseudogene pseudogene pseudogene Approved 1p13.3 01p13.3 NBPF5 neuroblastoma breakpoint family, member 5 NBPF members 662 2005-11-23 2013-01-16 2017-03-01 2020-04-20 100507044 ENSG00000243967 OTTHUMG00000011317 BC043522 NG_028895 Q86XG9 16079250 613995 PGOHUM00000251119 HGNC:24491 HGNC:31988 NBPF6 NBPF member 6 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 neuroblastoma breakpoint family, member 6 NBPF members 662 2005-11-23 2017-03-01 2023-03-15 653149 ENSG00000186086 OTTHUMG00000039830 uc009wep.3 NM_001143988 CCDS44184 Q5VWK0 16079250 613996 HGNC:31988 "ENST00000495380.7|NM_001143988.2" @@ -22221,11 +22223,11 @@ HGNC:32001 NBPF21P NBPF member 21, pseudogene pseudogene pseudogene Approved 3p2 HGNC:28731 NBPF22P NBPF member 22, pseudogene pseudogene pseudogene Approved 5q14.3 05q14.3 MGC48637 neuroblastoma breakpoint family, member 22, pseudogene NBPF members 662 2007-07-24 2017-03-01 2017-03-01 285622 ENSG00000205449 OTTHUMG00000162585 BC050328 XM_208333 16079250 PGOHUM00000251384 HGNC:28731 HGNC:45046 NBPF25P NBPF member 25, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 neuroblastoma breakpoint family, member 25, pseudogene NBPF members 662 2014-01-16 2017-03-01 2017-03-01 101929780 ENSG00000272150 OTTHUMG00000188662 NR_104217 PGOHUM00000295869 HGNC:45046 HGNC:49571 NBPF26 NBPF member 26 protein-coding gene gene with protein product Approved 1p11.2 01p11.2 neuroblastoma breakpoint family, member 26 NBPF members 662 2014-01-16 2017-03-01 2017-03-01 101060684 ENSG00000273136 OTTHUMG00000189374 NM_001351372 B4DH59 24885025 HGNC:49571 -HGNC:6746 NBR1 NBR1 autophagy cargo receptor protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CA125|KIAA0049|1A1-3B" M17S2 "membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)|neighbor of BRCA1 gene 1" Zinc fingers ZZ-type 91 1994-08-29 2005-02-16 2019-01-21 2023-01-20 4077 ENSG00000188554 OTTHUMG00000180878 uc010czd.4 X76952 NM_005899 "CCDS77038|CCDS77037|CCDS45694" Q14596 "8069304|26112016" MGI:108498 RGD:69195 166945 HGNC:6746 "ENST00000590996.6|NM_005899.5" +HGNC:6746 NBR1 NBR1 autophagy cargo receptor protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CA125|KIAA0049|1A1-3B" M17S2 "membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)|neighbor of BRCA1 gene 1" Zinc fingers ZZ-type 91 1994-08-29 2005-02-16 2019-01-21 2023-01-20 4077 ENSG00000188554 OTTHUMG00000180878 uc010czd.4 X76952 NM_005899 "CCDS77037|CCDS77038|CCDS45694" Q14596 "8069304|26112016" MGI:108498 RGD:69195 166945 HGNC:6746 "ENST00000590996.6|NM_005899.5" HGNC:20691 NBR2 neighbor of BRCA1 lncRNA 2 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 NCRNA00192 non-protein coding RNA 192 "neighbor of BRCA1 gene 2|neighbor of BRCA1 gene 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2003-03-20 2018-05-16 2023-03-15 10230 ENSG00000198496 OTTHUMG00000140395 U88573 NR_003108 "9215675|15777733|26999735" 618708 NBR2 HGNC:20691 -HGNC:56663 NCAL1 NK cell activity associated lncRNA 1 non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Long non-coding RNAs with non-systematic symbols 1992 2022-12-08 2022-12-08 128193293 ENSG00000284879 36248894 +HGNC:56663 NCAL1 NK cell activity associated lncRNA 1 non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Long non-coding RNAs with non-systematic symbols 1992 2022-12-08 2022-12-08 128193293 ENSG00000284879 NR_186253 36248894 HGNC:7655 NCALD neurocalcin delta protein-coding gene gene with protein product Approved 8q22.3 08q22.3 EF-hand domain containing 863 2000-06-29 2023-01-20 83988 ENSG00000104490 OTTHUMG00000164876 uc003ykl.4 AF052142 NM_001040624 CCDS6292 P61601 11267673 MGI:1196326 RGD:1560287 606722 HGNC:7655 "ENST00000220931.11|NM_032041.3" -HGNC:7656 NCAM1 neural cell adhesion molecule 1 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "NCAM|CD56" "CD molecules|Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "471|555|593|1410" 2001-06-22 2023-01-20 4684 ENSG00000149294 OTTHUMG00000167196 uc058hjx.1 NM_000615 "CCDS91595|CCDS73388|CCDS73384|CCDS73385|CCDS73386|CCDS73387" P13591 MGI:97281 RGD:67378 116930 objectId:2769 CD56 HGNC:7656 "ENST00000316851.12|NM_181351.5" +HGNC:7656 NCAM1 neural cell adhesion molecule 1 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "NCAM|CD56" "CD molecules|Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "471|555|593|1410" 2001-06-22 2023-01-20 4684 ENSG00000149294 OTTHUMG00000167196 uc058hjx.1 NM_000615 "CCDS73386|CCDS91595|CCDS73388|CCDS73387|CCDS73385|CCDS73384" P13591 MGI:97281 RGD:67378 116930 objectId:2769 CD56 HGNC:7656 "ENST00000316851.12|NM_181351.5" HGNC:48675 NCAM1-AS1 NCAM1 antisense RNA1 non-coding RNA RNA, long non-coding Approved 11q23.2 11q23.2 Antisense RNAs 1987 2013-06-06 2013-06-06 100288346 ENSG00000227487 OTTHUMG00000167663 NR_034101 NCAM1-AS1 HGNC:48675 HGNC:7657 NCAM2 neural cell adhesion molecule 2 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "NCAM21|MGC51008" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1997-04-25 2023-01-20 4685 ENSG00000154654 OTTHUMG00000078121 uc002yld.3 NM_004540 CCDS42910 O15394 9226371 MGI:97282 RGD:1303131 602040 HGNC:7657 "ENST00000400546.6|NM_004540.5" HGNC:2465 NCAN neurocan protein-coding gene gene with protein product Approved 19p12 19p12 neurocan proteoglycan CSPG3 chondroitin sulfate proteoglycan 3 "Receptor ligands|Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing" "542|574|590|1179|1298" 1997-12-23 2007-02-15 2007-02-15 2023-01-20 1463 ENSG00000130287 OTTHUMG00000182218 uc002nlz.4 AF026547 NM_004386 CCDS12397 O14594 "1326557|21353194" MGI:104694 RGD:619941 600826 ligandId:6616 HGNC:2465 "ENST00000252575.11|NM_004386.3" @@ -22233,30 +22235,30 @@ HGNC:24305 NCAPD2 non-SMC condensin I complex subunit D2 protein-coding gene gen HGNC:43831 NCAPD2P1 non-SMC condensin I complex subunit D2 pseudogene 1 pseudogene pseudogene Approved 7p14.3 07p14.3 non-SMC condensin I complex, subunit D2 pseudogene 1 2012-03-23 2015-11-12 2015-11-12 100421175 ENSG00000230356 OTTHUMG00000153020 NG_026451 PGOHUM00000232646 HGNC:43831 HGNC:28952 NCAPD3 non-SMC condensin II complex subunit D3 protein-coding gene gene with protein product Approved 11q25 11q25 "hCAP-D3|CAP-D3|hHCP-6|KIAA0056|FLJ42888|hcp-6" non-SMC condensin II complex, subunit D3 "Condensin II subunits|Armadillo like helical domain containing" "1453|1492" 2006-09-04 2015-11-12 2023-01-20 23310 ENSG00000151503 OTTHUMG00000167172 uc001qhd.2 AK124878 NM_015261 "CCDS31723|CCDS91627" P42695 "7584044|8619474|14532007" MGI:2142989 RGD:1562176 609276 HGNC:28952 "ENST00000534548.7|NM_015261.3" HGNC:28952 HGNC:24304 NCAPG non-SMC condensin I complex subunit G protein-coding gene gene with protein product Approved 4p15.31 04p15.31 "FLJ12450|hCAP-G|CAP-G|YCG1" chromosome condensation protein G non-SMC condensin I complex, subunit G "Condensin I subunits|Armadillo like helical domain containing" "1452|1492" 2006-09-04 2015-11-12 2023-01-20 64151 ENSG00000109805 OTTHUMG00000128539 uc003gpp.5 AF331796 NM_022346 CCDS3424 Q9BPX3 "10910072|11136719" MGI:1930197 RGD:1562646 606280 HGNC:24304 "ENST00000251496.7|NM_022346.5" -HGNC:21904 NCAPG2 non-SMC condensin II complex subunit G2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "FLJ20311|MTB|CAP-G2|hCAP-G2" LUZP5 "leucine zipper protein 5|non-SMC condensin II complex, subunit G2" "Condensin II subunits|Armadillo like helical domain containing" "1453|1492" 2005-04-20 2006-09-04 2015-11-12 2023-01-20 54892 ENSG00000146918 OTTHUMG00000151438 uc003wnv.3 BC043404 NM_017760 "CCDS64816|CCDS43686" Q86XI2 14532007 MGI:1923294 RGD:1308406 608532 HGNC:21904 "ENST00000356309.8|NM_017760.7" HGNC:21904 +HGNC:21904 NCAPG2 non-SMC condensin II complex subunit G2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "FLJ20311|MTB|CAP-G2|hCAP-G2" LUZP5 "leucine zipper protein 5|non-SMC condensin II complex, subunit G2" "Condensin II subunits|Armadillo like helical domain containing" "1453|1492" 2005-04-20 2006-09-04 2015-11-12 2023-01-20 54892 ENSG00000146918 OTTHUMG00000151438 uc003wnv.3 BC043404 NM_017760 "CCDS43686|CCDS64816" Q86XI2 14532007 MGI:1923294 RGD:1308406 608532 HGNC:21904 "ENST00000356309.8|NM_017760.7" HGNC:21904 HGNC:51904 NCAPGP1 non-SMC condensin I complex subunit G pseudogene 1 pseudogene pseudogene Approved 8q24.12 08q24.12 non-SMC condensin I complex, subunit G pseudogene 1 2015-09-21 2015-11-12 2015-11-12 100421096 ENSG00000250290 OTTHUMG00000160497 NG_026071 PGOHUM00000303368 HGNC:51904 HGNC:51905 NCAPGP2 non-SMC condensin I complex subunit G pseudogene 2 pseudogene pseudogene Approved 15q13.2 15q13.2 non-SMC condensin I complex, subunit G pseudogene 2 2015-09-21 2015-11-12 2015-11-12 100421148 ENSG00000259749 OTTHUMG00000172195 NG_025369 PGOHUM00000293162 HGNC:51905 HGNC:1112 NCAPH non-SMC condensin I complex subunit H protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "CAP-H|hCAP-H|NCAPH1" BRRN1 "barren (Drosophila) homolog|barren homolog (Drosophila)|barren homolog 1 (Drosophila)|non-SMC condensin I complex, subunit H" "Kleisins|Condensin I subunits" "1451|1452" 1998-02-11 2006-09-04 2015-11-12 2023-05-03 23397 ENSG00000121152 OTTHUMG00000130451 uc002svz.3 BC024211 NM_015341 "CCDS62960|CCDS2021" Q15003 9417923 MGI:2444777 RGD:1596799 602332 HGNC:1112 "ENST00000240423.9|NM_015341.5" -HGNC:25071 NCAPH2 non-SMC condensin II complex subunit H2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "384D8-2|hCAP-H2|CAP-H2" "kleisin beta|CAP-H2 subunit of the condensin II complex" non-SMC condensin II complex, subunit H2 Condensin II subunits 1453 2006-09-04 2015-11-12 2023-01-20 29781 ENSG00000025770 OTTHUMG00000150205 uc003blr.5 BC001937 NM_152299 "CCDS14094|CCDS54546|CCDS43038" Q6IBW4 10493829 MGI:1289164 RGD:1565937 611230 HGNC:25071 "ENST00000420993.7|NM_152299.4" +HGNC:25071 NCAPH2 non-SMC condensin II complex subunit H2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "384D8-2|hCAP-H2|CAP-H2" "kleisin beta|CAP-H2 subunit of the condensin II complex" non-SMC condensin II complex, subunit H2 Condensin II subunits 1453 2006-09-04 2015-11-12 2023-01-20 29781 ENSG00000025770 OTTHUMG00000150205 uc003blr.5 BC001937 NM_152299 "CCDS54546|CCDS43038|CCDS14094" Q6IBW4 10493829 MGI:1289164 RGD:1565937 611230 HGNC:25071 "ENST00000420993.7|NM_152299.4" HGNC:7658 NCBP1 nuclear cap binding protein subunit 1 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "CBP80|Sto1" NCBP "nuclear cap binding protein subunit 1, 80kD|nuclear cap binding protein subunit 1, 80kDa" MIF4G domain containing proteins 2128 1995-01-05 2015-11-09 2023-01-20 4686 ENSG00000136937 OTTHUMG00000020332 uc004axq.4 BC001450 NM_002486 CCDS6728 Q09161 "7937105|8812508" MGI:1891840 RGD:1308973 600469 HGNC:7658 "ENST00000375147.8|NM_002486.5" HGNC:7658 -HGNC:7659 NCBP2 nuclear cap binding protein subunit 2 protein-coding gene gene with protein product Approved 3q29 03q29 "NIP1|CBP20|Cbc2" "nuclear cap binding protein subunit 2, 20kD|nuclear cap binding protein subunit 2, 20kDa" RNA binding motif containing 725 2000-01-17 2015-11-09 2023-01-20 22916 ENSG00000114503 OTTHUMG00000155520 uc003fxd.2 D59253 NM_007362 "CCDS46986|CCDS93446|CCDS3323|CCDS77878" P52298 "7478990|7651522|8682299" MGI:1915342 RGD:1596188 605133 HGNC:7659 "ENST00000321256.10|NM_007362.5" +HGNC:7659 NCBP2 nuclear cap binding protein subunit 2 protein-coding gene gene with protein product Approved 3q29 03q29 "NIP1|CBP20|Cbc2" "nuclear cap binding protein subunit 2, 20kD|nuclear cap binding protein subunit 2, 20kDa" RNA binding motif containing 725 2000-01-17 2015-11-09 2023-01-20 22916 ENSG00000114503 OTTHUMG00000155520 uc003fxd.2 D59253 NM_007362 "CCDS93446|CCDS77878|CCDS3323|CCDS46986" P52298 "7478990|7651522|8682299" MGI:1915342 RGD:1596188 605133 HGNC:7659 "ENST00000321256.10|NM_007362.5" HGNC:40392 NCBP2-AS1 NCBP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 NCBP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874001 ENSG00000225578 OTTHUMG00000155523 uc062sda.1 NR_046630 NCBP2-AS1 HGNC:40392 HGNC:25121 NCBP2AS2 NCBP2 antisense 2 (head to head) protein-coding gene gene with protein product Approved 3q29 03q29 "HIAR|KRASIM" "hypoxia-induced angiogenesis regulator|KRAS-interacting microprotein" NCBP2-AS2 NCBP2 antisense RNA 2 (head to head) 2013-05-17 2019-03-07 2019-03-07 2023-01-20 152217 ENSG00000270170 OTTHUMG00000184107 BC007882 NM_138487 CCDS87189 Q69YL0 "30723174|31240521" MGI:1913301 RGD:41269461 HGNC:25121 "ENST00000602845.2|NM_001355243.2" HGNC:31795 NCBP2L nuclear cap binding protein subunit 2 like protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 RNA binding motif containing 725 2004-08-17 2017-05-12 2023-01-20 392517 ENSG00000170935 OTTHUMG00000022169 uc065apo.1 NM_001348372 CCDS87770 A6PVI3 MGI:1915342 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NCBP2L HGNC:31795 "ENST00000509000.3|NM_001348372.2" HGNC:24612 NCBP3 nuclear cap binding subunit 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "HSA277841|ELG" ELG protein C17orf85 chromosome 17 open reading frame 85 2006-06-23 2015-09-24 2015-09-24 2023-03-15 55421 ENSG00000074356 OTTHUMG00000177672 NM_018553 CCDS45578 Q53F19 "11412301|26382858" MGI:1914124 RGD:1308139 616624 HGNC:24612 "ENST00000389005.6|NM_001114118.3" HGNC:33739 NCCRP1 NCCRP1, F-box associated domain containing protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "LOC342897|NCCRP-1|FBXO50" non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 2008-10-22 2019-07-04 2023-01-20 342897 ENSG00000188505 OTTHUMG00000182802 uc002okq.2 "AK123941|BC067874" NM_001001414 CCDS12529 Q6ZVX7 22087255 MGI:2685009 RGD:1305932 615901 HGNC:33739 "ENST00000339852.5|NM_001001414.2" -HGNC:17597 NCDN neurochondrin protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "NCDN-1|NCDN-2" norbin Armadillo like helical domain containing 1492 2004-11-11 2023-01-20 23154 ENSG00000020129 OTTHUMG00000059204 uc001bza.3 AB011179 NM_014284 "CCDS392|CCDS30672" Q9UBB6 "15007648|26048293" MGI:1347351 RGD:621734 608458 HGNC:17597 "ENST00000373243.7|NM_014284.3" HGNC:17597 -HGNC:29260 NCEH1 neutral cholesterol ester hydrolase 1 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 "KIAA1363|NCEH" "alkylacetylglycerol acetylhydrolase|acetylalkylglycerol acetylhydrolase" AADACL1 arylacetamide deacetylase-like 1 Arylacetamide deacetylase family 465 2005-02-25 2009-07-23 2009-07-23 2023-01-20 57552 ENSG00000144959 OTTHUMG00000156872 uc003fig.4 AB037784 NM_020792 "CCDS33893|CCDS54681" Q6PIU2 "10718198|17052608|22771767" MGI:2443191 RGD:1311104 613234 S09.992 3.1.1.71 HGNC:29260 "ENST00000475381.7|NM_020792.6" +HGNC:17597 NCDN neurochondrin protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "NCDN-1|NCDN-2" norbin Armadillo like helical domain containing 1492 2004-11-11 2023-01-20 23154 ENSG00000020129 OTTHUMG00000059204 uc001bza.3 AB011179 NM_014284 "CCDS30672|CCDS392" Q9UBB6 "15007648|26048293" MGI:1347351 RGD:621734 608458 HGNC:17597 "ENST00000373243.7|NM_014284.3" HGNC:17597 +HGNC:29260 NCEH1 neutral cholesterol ester hydrolase 1 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 "KIAA1363|NCEH" "alkylacetylglycerol acetylhydrolase|acetylalkylglycerol acetylhydrolase" AADACL1 arylacetamide deacetylase-like 1 Arylacetamide deacetylase family 465 2005-02-25 2009-07-23 2009-07-23 2023-01-20 57552 ENSG00000144959 OTTHUMG00000156872 uc003fig.4 AB037784 NM_020792 "CCDS54681|CCDS33893" Q6PIU2 "10718198|17052608|22771767" MGI:2443191 RGD:1311104 613234 S09.992 3.1.1.71 HGNC:29260 "ENST00000475381.7|NM_020792.6" HGNC:7660 NCF1 neutrophil cytosolic factor 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "p47phox|NOXO2|NCF1A|SH3PXD1A" "NADPH oxidase organizer 2|chronic granulomatous disease, autosomal 1" neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1) 1989-05-25 2008-07-31 2023-01-20 653361 ENSG00000158517 OTTHUMG00000149965 uc003ubb.5 M25665 NM_000265 CCDS34657 P14598 MGI:97283 RGD:61307 "NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox|http://structure.bmc.lu.se/idbase/NCF1base/|LRG_87|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_87.xml" 608512 123695 HGNC:7660 "ENST00000289473.11|NM_000265.7" HGNC:7660 HGNC:32522 NCF1B neutrophil cytosolic factor 1B pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 SH3PXD1B neutrophil cytosolic factor 1B 2006-02-13 2006-09-19 2014-03-20 654816 ENSG00000182487 OTTHUMG00000156804 NR_003186 A6NI72 MGI:97283 PGOHUM00000258289 HGNC:32522 HGNC:32523 NCF1C neutrophil cytosolic factor 1C pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 SH3PXD1C neutrophil cytosolic factor 1C 2006-02-13 2006-09-19 2008-10-31 654817 ENSG00000165178 OTTHUMG00000149964 NR_003187 A8MVU1 MGI:97283 HGNC:32523 -HGNC:7661 NCF2 neutrophil cytosolic factor 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "p67phox|NOXA2" "NADPH oxidase activator 2|chronic granulomatous disease, autosomal 2" neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) Tetratricopeptide repeat domain containing 769 1989-05-25 2008-07-31 2023-01-20 4688 ENSG00000116701 OTTHUMG00000035329 uc001gqk.5 BC001606 NM_000433 "CCDS91125|CCDS53447|CCDS53446|CCDS1356" P19878 MGI:97284 RGD:1309424 "NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox|http://structure.bmc.lu.se/idbase/NCF2base/|LRG_88|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_88.xml" 608515 123701 HGNC:7661 "ENST00000367535.8|NM_000433.4" HGNC:7661 +HGNC:7661 NCF2 neutrophil cytosolic factor 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "p67phox|NOXA2" "NADPH oxidase activator 2|chronic granulomatous disease, autosomal 2" neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) Tetratricopeptide repeat domain containing 769 1989-05-25 2008-07-31 2023-01-20 4688 ENSG00000116701 OTTHUMG00000035329 uc001gqk.5 BC001606 NM_000433 "CCDS1356|CCDS53447|CCDS91125|CCDS53446" P19878 MGI:97284 RGD:1309424 "NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox|http://structure.bmc.lu.se/idbase/NCF2base/|LRG_88|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_88.xml" 608515 123701 HGNC:7661 "ENST00000367535.8|NM_000433.4" HGNC:7661 HGNC:7662 NCF4 neutrophil cytosolic factor 4 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "p40phox|SH3PXD4" neutrophil NADPH oxidase factor 4 "neutrophil cytosolic factor 4 (40kD)|neutrophil cytosolic factor 4, 40kDa" 1996-06-19 2015-11-09 2023-01-20 4689 ENSG00000100365 OTTHUMG00000150548 uc003apy.5 X77094 NM_000631 "CCDS13935|CCDS13934" Q15080 8839867 MGI:109186 RGD:1593157 LRG_159|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_159.xml 601488 204415 HGNC:7662 "ENST00000248899.11|NM_000631.5" HGNC:7662 HGNC:40393 NCF4-AS1 NCF4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 CTA-833B7.2 Antisense RNAs 1987 2016-12-09 2016-12-09 107985578 ENSG00000183822 OTTHUMG00000150550 NR_147197 27836685 HGNC:40393 -HGNC:7664 NCK1 NCK adaptor protein 1 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 NCKalpha NCK SH2 domain containing 741 1998-11-04 2023-01-20 4690 ENSG00000158092 OTTHUMG00000159781 uc062odz.1 X17576 NM_006153 "CCDS3092|CCDS54644" P16333 "7806213|9737977" MGI:109601 RGD:1310688 600508 HGNC:7664 "ENST00000481752.6|NM_001291999.2" +HGNC:7664 NCK1 NCK adaptor protein 1 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 NCKalpha NCK SH2 domain containing 741 1998-11-04 2023-01-20 4690 ENSG00000158092 OTTHUMG00000159781 uc062odz.1 X17576 NM_006153 "CCDS54644|CCDS3092" P16333 "7806213|9737977" MGI:109601 RGD:1310688 600508 HGNC:7664 "ENST00000481752.6|NM_001291999.2" HGNC:49645 NCK1-DT NCK1 divergent transcript non-coding RNA RNA, long non-coding Approved 3q22.3 03q22.3 SLC35G2-AS1 SLC35G2 antisense RNA 1 NCK1-AS1 NCK1 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-01-28 2018-03-23 2018-03-23 2018-03-23 101927597 ENSG00000239213 OTTHUMG00000159786 NR_110175 29416014 NCK1-AS1 HGNC:49645 HGNC:7665 NCK2 NCK adaptor protein 2 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 NCKbeta SH2 domain containing 741 1998-10-29 2023-03-15 8440 ENSG00000071051 OTTHUMG00000153116 uc002tdg.4 AF043119 NM_003581 CCDS33266 O43639 "9737977|16752908" MGI:1306821 RGD:1305965 604930 HGNC:7665 "ENST00000233154.9|NM_003581.5" -HGNC:7666 NCKAP1 NCK associated protein 1 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "Nap1|HEM2|NAP125" SCAR/WAVE complex 1793 1999-07-19 2016-01-15 2023-01-20 10787 ENSG00000061676 OTTHUMG00000132623 uc002upc.5 AB014509 NM_205842 "CCDS2287|CCDS2288" Q9Y2A7 "10673335|12181570|9344857" MGI:1355333 RGD:61939 604891 470730 HGNC:7666 "ENST00000361354.9|NM_013436.5" +HGNC:7666 NCKAP1 NCK associated protein 1 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "Nap1|HEM2|NAP125" SCAR/WAVE complex 1793 1999-07-19 2016-01-15 2023-01-20 10787 ENSG00000061676 OTTHUMG00000132623 uc002upc.5 AB014509 NM_205842 "CCDS2288|CCDS2287" Q9Y2A7 "10673335|12181570|9344857" MGI:1355333 RGD:61939 604891 470730 HGNC:7666 "ENST00000361354.9|NM_013436.5" HGNC:4862 NCKAP1L NCK associated protein 1 like protein-coding gene gene with protein product Approved 12q13.13-q13.2 12q13.13-q13.2 HEM1 hematopoietic protein 1 1993-01-27 2005-10-11 2016-01-15 2023-01-20 3071 ENSG00000123338 OTTHUMG00000169843 uc001sgc.5 AI924363 NM_005337 "CCDS53799|CCDS31813" P55160 1932118 MGI:1926063 RGD:1312032 141180 HGNC:4862 "ENST00000293373.11|NM_005337.5" HGNC:4862 HGNC:55028 NCKAP1P1 NCKAP1 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-28 2020-05-28 101060152 ENSG00000237752 NG_033245 HGNC:29847 NCKAP5 NCK associated protein 5 protein-coding gene gene with protein product Approved 2q21.2 02q21.2 "NAP5|ERIH1|ERIH2" peripheral clock protein 2009-08-14 2016-01-15 2023-01-20 344148 ENSG00000176771 OTTHUMG00000153573 uc002ttp.3 AB005217 NM_207481 "CCDS46418|CCDS46417" O14513 9344857 MGI:2686394 RGD:1564507 608789 HGNC:29847 "ENST00000409261.6|NM_207363.3" @@ -22271,10 +22273,10 @@ HGNC:35472 NCLP1 nucleolin pseudogene 1 pseudogene pseudogene Approved 9q34.3 09 HGNC:35473 NCLP2 nucleolin pseudogene 2 pseudogene pseudogene Approved Xq26.3 Xq26.3 bA85L21.1 2009-03-03 2014-11-19 100379142 ENSG00000234228 OTTHUMG00000022467 NG_016573 PGOHUM00000241553 HGNC:35473 HGNC:29332 NCMAP non-compact myelin associated protein protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FLJ42528|MP11" myelin protein of 11 kDa C1orf130 chromosome 1 open reading frame 130 2005-06-30 2012-07-31 2015-11-18 2023-01-20 400746 ENSG00000184454 OTTHUMG00000003317 uc001bjk.3 AK124519 NM_001010980 CCDS30632 Q5T1S8 18650334 MGI:2444888 RGD:1587554 HGNC:29332 "ENST00000374392.3|NM_001010980.5" HGNC:54327 NCMAP-DT NCMAP divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Divergent transcripts 1990 2019-05-09 2019-05-09 100506985 ENSG00000264443 NR_109781 HGNC:54327 -HGNC:7668 NCOA1 nuclear receptor coactivator 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "SRC1|F-SRC-1|NCoA-1|KAT13A|RIP160|bHLHe74" "Basic helix-loop-helix proteins|Lysine acetyltransferases|PAS domain containing" "420|486|2127" 1999-12-17 2023-01-20 8648 ENSG00000084676 OTTHUMG00000125523 uc002rfk.4 U40396 NM_147223 "CCDS1712|CCDS42660|CCDS1713" Q15788 "7481822|9575154" MGI:1276523 RGD:1309046 NCOA1 602691 objectId:2693 HGNC:7668 "ENST00000348332.8|NM_003743.5" +HGNC:7668 NCOA1 nuclear receptor coactivator 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "SRC1|F-SRC-1|NCoA-1|KAT13A|RIP160|bHLHe74" "Basic helix-loop-helix proteins|Lysine acetyltransferases|PAS domain containing" "420|486|2127" 1999-12-17 2023-01-20 8648 ENSG00000084676 OTTHUMG00000125523 uc002rfk.4 U40396 NM_147223 "CCDS1713|CCDS42660|CCDS1712" Q15788 "7481822|9575154" MGI:1276523 RGD:1309046 NCOA1 602691 objectId:2693 HGNC:7668 "ENST00000348332.8|NM_003743.5" HGNC:7669 NCOA2 nuclear receptor coactivator 2 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "TIF2|GRIP1|NCoA-2|KAT13C|bHLHe75" glucocorticoid receptor interacting protein 1 "Basic helix-loop-helix proteins|Lysine acetyltransferases|PAS domain containing" "420|486|2127" 1999-12-17 2023-01-20 10499 ENSG00000140396 OTTHUMG00000164671 uc003xyn.2 X97674 NM_001321703 CCDS47872 Q15596 "9111344|8670870" MGI:1276533 RGD:620108 NCOA2 601993 objectId:2694 HGNC:7669 "ENST00000452400.7|NM_006540.4" HGNC:7670 NCOA3 nuclear receptor coactivator 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "RAC3|AIB1|ACTR|p/CIP|TRAM-1|CAGH16|TNRC16|KAT13B|bHLHe42|SRC-3|SRC3" "receptor-associated coactivator 3|thyroid hormone receptor activator molecule 1" "Basic helix-loop-helix proteins|Lysine acetyltransferases|PAS domain containing" "420|486|2127" 1999-12-17 2023-01-20 8202 ENSG00000124151 OTTHUMG00000033061 uc002xtk.4 AF012108 NM_006534 "CCDS54472|CCDS13407|CCDS13406" Q9Y6Q9 "9252329|9346901" MGI:1276535 RGD:620109 601937 objectId:2695 HGNC:7670 "ENST00000371998.8|NM_181659.3" -HGNC:7671 NCOA4 nuclear receptor coactivator 4 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "ARA70|RFG|ELE1|PTC3|DKFZp762E1112" RET-activating gene ELE1 1999-12-17 2023-01-20 8031 ENSG00000266412 OTTHUMG00000188314 uc009xon.4 L49399 NM_005437 "CCDS73092|CCDS73093|CCDS73094" Q13772 "8290261|8643607|24695223" MGI:1350932 RGD:1563014 NCOA4 601984 311587 HGNC:7671 "ENST00000581486.6|NM_001145263.2" +HGNC:7671 NCOA4 nuclear receptor coactivator 4 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "ARA70|RFG|ELE1|PTC3|DKFZp762E1112" RET-activating gene ELE1 1999-12-17 2023-01-20 8031 ENSG00000266412 OTTHUMG00000188314 uc009xon.4 L49399 NM_005437 "CCDS73093|CCDS73092|CCDS73094" Q13772 "8290261|8643607|24695223" MGI:1350932 RGD:1563014 NCOA4 601984 311587 HGNC:7671 "ENST00000581486.6|NM_001145263.2" HGNC:20022 NCOA4P1 nuclear receptor coactivator 4 pseudogene 1 pseudogene pseudogene Approved 14q23.3 14q23.3 NCOA4P nuclear receptor coactivator 4 pseudogene 2003-01-13 2010-02-26 2010-02-26 2020-04-07 326605 ENSG00000258629 OTTHUMG00000171174 NG_002594 PGOHUM00000247833 HGNC:20022 HGNC:52403 NCOA4P2 nuclear receptor coactivator 4 pseudogene 2 pseudogene pseudogene Approved 4q22.1 04q22.1 2016-10-25 2016-10-25 728333 ENSG00000249934 OTTHUMG00000160997 NG_009764 PGOHUM00000299921 HGNC:52403 HGNC:52404 NCOA4P3 nuclear receptor coactivator 4 pseudogene 3 pseudogene pseudogene Approved 4q31.21 04q31.21 2016-10-25 2016-10-25 729497 ENSG00000249245 OTTHUMG00000161368 NG_009765 PGOHUM00000300025 HGNC:52404 @@ -22282,20 +22284,20 @@ HGNC:52405 NCOA4P4 nuclear receptor coactivator 4 pseudogene 4 pseudogene pseudo HGNC:15909 NCOA5 nuclear receptor coactivator 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "bA465L10.6|CIA" coactivator independent of AF-2 2001-06-21 2023-01-20 57727 ENSG00000124160 OTTHUMG00000032639 uc002xre.4 NM_020967 CCDS13392 Q9HCD5 "11780052|11113208" MGI:2385165 RGD:1307702 616825 HGNC:15909 "ENST00000290231.11|NM_020967.3" HGNC:55095 NCOA5LP nuclear receptor coactivator 5 like, pseudogene pseudogene pseudogene Approved 16q12.1 16q12.1 2020-06-22 2020-06-22 2020-06-22 2020-06-22 118568822 ENSG00000283365 NG_084022 HGNC:15936 NCOA6 nuclear receptor coactivator 6 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "KIAA0181|RAP250|ASC2|AIB3|PRIP|TRBP|NRC" "nuclear receptor coactivator RAP250|activating signal cointegrator-2|peroxisome proliferator-activated receptor interacting protein" 2001-12-19 2023-01-20 23054 ENSG00000198646 OTTHUMG00000032311 uc002xaw.4 AF128458 NM_014071 "CCDS13241|CCDS74720" Q14686 "8724849|8263591" MGI:1929915 RGD:620111 605299 HGNC:15936 "ENST00000359003.7|NM_014071.5" -HGNC:21081 NCOA7 nuclear receptor coactivator 7 protein-coding gene gene with protein product Approved 6q22.31-q22.32 06q22.31-q22.32 "ERAP140|dJ187J11.3|TLDC4" TBC/LysM-associated domain containing 4 TLDc domain containing 2055 2003-05-28 2023-01-20 135112 ENSG00000111912 OTTHUMG00000015513 uc003qae.5 AJ420542 NM_001199619 "CCDS83125|CCDS56448|CCDS5132" Q8NI08 11971969 MGI:2444847 RGD:1566426 609752 HGNC:21081 "ENST00000392477.7|NM_181782.5" +HGNC:21081 NCOA7 nuclear receptor coactivator 7 protein-coding gene gene with protein product Approved 6q22.31-q22.32 06q22.31-q22.32 "ERAP140|dJ187J11.3|TLDC4" TBC/LysM-associated domain containing 4 TLDc domain containing 2055 2003-05-28 2023-01-20 135112 ENSG00000111912 OTTHUMG00000015513 uc003qae.5 AJ420542 NM_001199619 "CCDS56448|CCDS5132|CCDS83125" Q8NI08 11971969 MGI:2444847 RGD:1566426 609752 HGNC:21081 "ENST00000392477.7|NM_181782.5" HGNC:40954 NCOA7-AS1 NCOA7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22.32 06q22.32 Antisense RNAs 1987 2013-07-01 2014-11-19 104355145 ENSG00000232131 OTTHUMG00000015510 AW444508 NR_126386 23801869 NCOA7-AS1 HGNC:40954 -HGNC:7672 NCOR1 nuclear receptor corepressor 1 protein-coding gene gene with protein product Approved 17p12-p11.2 17p12-p11.2 "N-CoR|hCIT529I10|TRAC1|hN-CoR|KIAA1047|MGC104216|PPP1R109" "thyroid hormone- and retinoic acid receptor-associated corepressor 1|protein phosphatase 1, regulatory subunit 109" nuclear receptor co-repressor 1 "Myb/SANT domain containing|Protein phosphatase 1 regulatory subunits|NCoR/SMRT transcriptional repression complex subunits" "532|694|1875" 1999-12-17 2010-06-10 2023-01-20 9611 ENSG00000141027 OTTHUMG00000059309 uc002gpo.4 AF044209 NM_006311 "CCDS54094|CCDS11175|CCDS54095" O75376 "7566114|9724795" MGI:1349717 RGD:3612 NCOR1 600849 HGNC:7672 "ENST00000268712.8|NM_006311.4" +HGNC:7672 NCOR1 nuclear receptor corepressor 1 protein-coding gene gene with protein product Approved 17p12-p11.2 17p12-p11.2 "N-CoR|hCIT529I10|TRAC1|hN-CoR|KIAA1047|MGC104216|PPP1R109" "thyroid hormone- and retinoic acid receptor-associated corepressor 1|protein phosphatase 1, regulatory subunit 109" nuclear receptor co-repressor 1 "Myb/SANT domain containing|Protein phosphatase 1 regulatory subunits|NCoR/SMRT transcriptional repression complex subunits" "532|694|1875" 1999-12-17 2010-06-10 2023-01-20 9611 ENSG00000141027 OTTHUMG00000059309 uc002gpo.4 AF044209 NM_006311 "CCDS54094|CCDS54095|CCDS11175" O75376 "7566114|9724795" MGI:1349717 RGD:3612 NCOR1 600849 HGNC:7672 "ENST00000268712.8|NM_006311.4" HGNC:16724 NCOR1P1 NCOR1 pseudogene 1 pseudogene pseudogene Approved 20p11.1 20p11.1 bB329D4.2 C20orf191 "chromosome 20 open reading frame 191|nuclear receptor corepressor 1 pseudogene 1" 2001-12-07 2011-09-16 2019-10-14 2023-03-15 149934 ENSG00000240108 OTTHUMG00000032145 AL391119 NR_003678 Q9H4R4 PGOHUM00000259634 HGNC:16724 HGNC:42997 NCOR1P2 NCOR1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 nuclear receptor corepressor 1 pseudogene 2 2011-09-16 2019-10-14 2019-10-14 729490 ENSG00000265019 OTTHUMG00000179019 NG_006551 PGOHUM00000294012 HGNC:42997 HGNC:42996 NCOR1P3 NCOR1 pseudogene 3 pseudogene pseudogene Approved 7p11.2 07p11.2 nuclear receptor corepressor 1 pseudogene 3 2011-09-16 2019-10-14 2019-10-14 100874183 ENSG00000233601 OTTHUMG00000156081 NG_032541 PGOHUM00000233298 HGNC:42996 HGNC:54557 NCOR1P4 NCOR1 pseudogene 4 pseudogene pseudogene Approved 21p11.2 21p11.2 2019-10-14 2019-10-14 105379511 ENSG00000279864 OTTHUMG00000189451 NR_135512 PGOHUM00000297320 -HGNC:7673 NCOR2 nuclear receptor corepressor 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SMRT|SMRTE|TRAC-1|CTG26|TNRC14" "silencing mediator of retinoic acid and thyroid hormone receptor|CTG repeat protein 26|thyroid-, retinoic-acid-receptor-associated corepressor" nuclear receptor co-repressor 2 "Myb/SANT domain containing|NCoR/SMRT transcriptional repression complex subunits" "532|1875" 1999-12-17 2010-06-10 2023-01-20 9612 ENSG00000196498 OTTHUMG00000150455 uc058uws.1 U37146 NM_006312 "CCDS55892|CCDS41858|CCDS41857" Q9Y618 "7566127|8813722" MGI:1337080 RGD:1310293 NCOR2 600848 HGNC:7673 "ENST00000405201.6|NM_006312.6" -HGNC:6731 NCR1 natural cytotoxicity triggering receptor 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "NK-p46|NKP46|CD335" LY94 lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46) "CD molecules|Immunoglobulin like domain containing" "471|594" 1999-04-09 2002-11-15 2002-11-13 2023-01-20 9437 ENSG00000189430 OTTHUMG00000183212 uc002qib.3 AJ001383 NM_001145457 "CCDS46182|CCDS12911|CCDS46181|CCDS56103" O76036 9730896 MGI:1336212 RGD:621288 604530 CD335 HGNC:6731 "ENST00000291890.9|NM_004829.7" -HGNC:6732 NCR2 natural cytotoxicity triggering receptor 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "NK-p44|CD336" LY95 lymphocyte antigen 95 (activating NK-receptor; NK-p44) "CD molecules|V-set domain containing" "471|590" 1999-04-09 2002-11-15 2002-11-13 2023-01-20 9436 ENSG00000096264 OTTHUMG00000014678 uc003oqh.3 AJ225109 NM_001199509 "CCDS56428|CCDS4855|CCDS56429" O95944 10049942 RGD:1311406 604531 CD336 HGNC:6732 "ENST00000373089.10|NM_004828.4" +HGNC:7673 NCOR2 nuclear receptor corepressor 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SMRT|SMRTE|TRAC-1|CTG26|TNRC14" "silencing mediator of retinoic acid and thyroid hormone receptor|CTG repeat protein 26|thyroid-, retinoic-acid-receptor-associated corepressor" nuclear receptor co-repressor 2 "Myb/SANT domain containing|NCoR/SMRT transcriptional repression complex subunits" "532|1875" 1999-12-17 2010-06-10 2023-01-20 9612 ENSG00000196498 OTTHUMG00000150455 uc058uws.1 U37146 NM_006312 "CCDS41858|CCDS55892|CCDS41857" Q9Y618 "7566127|8813722" MGI:1337080 RGD:1310293 NCOR2 600848 HGNC:7673 "ENST00000405201.6|NM_006312.6" +HGNC:6731 NCR1 natural cytotoxicity triggering receptor 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "NK-p46|NKP46|CD335" LY94 lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46) "CD molecules|Immunoglobulin like domain containing" "471|594" 1999-04-09 2002-11-15 2002-11-13 2023-01-20 9437 ENSG00000189430 OTTHUMG00000183212 uc002qib.3 AJ001383 NM_001145457 "CCDS46181|CCDS12911|CCDS56103|CCDS46182" O76036 9730896 MGI:1336212 RGD:621288 604530 CD335 HGNC:6731 "ENST00000291890.9|NM_004829.7" +HGNC:6732 NCR2 natural cytotoxicity triggering receptor 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "NK-p44|CD336" LY95 lymphocyte antigen 95 (activating NK-receptor; NK-p44) "CD molecules|V-set domain containing" "471|590" 1999-04-09 2002-11-15 2002-11-13 2023-01-20 9436 ENSG00000096264 OTTHUMG00000014678 uc003oqh.3 AJ225109 NM_001199509 "CCDS56428|CCDS56429|CCDS4855" O95944 10049942 RGD:1311406 604531 CD336 HGNC:6732 "ENST00000373089.10|NM_004828.4" HGNC:19077 NCR3 natural cytotoxicity triggering receptor 3 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "1C7|NKp30|CD337" LY117 lymphocyte antigen 117 "CD molecules|V-set domain containing" "471|590" 2002-08-05 2002-11-15 2002-11-13 2023-01-20 259197 ENSG00000204475 OTTHUMG00000031123 uc003nuv.3 AB055881 NM_001145466 "CCDS34397|CCDS47402|CCDS47401" O14931 "8824804|11782277" MGI:2149332 RGD:727881 611550 objectId:3141 CD337 HGNC:19077 "ENST00000340027.10|NM_147130.3" HGNC:42400 NCR3LG1 natural killer cell cytotoxicity receptor 3 ligand 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "DKFZp686O24166|B7-H6" B7 homolog 6 "Receptor ligands|C1-set domain containing|B7 family" "542|591|1824" 2012-04-12 2023-01-20 374383 ENSG00000188211 OTTHUMG00000165913 uc001mmz.5 NM_001202439 CCDS55748 Q68D85 19528259 RGD:1588614 613714 ligandId:11142 HGNC:42400 "ENST00000338965.9|NM_001202439.3" HGNC:37153 NCRUPAR non-protein coding RNA, upstream of F2R/PAR1 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 "ncR-uPAR|NCRNA00193" "noncoding RNA upstream of the PAR-1|non-protein coding RNA 193" Long non-coding RNAs with non-systematic symbols 1992 2009-07-29 2020-05-04 100302746 NR_028375 12084570 ncR-uPAR NCRUPAR HGNC:37153 -HGNC:3953 NCS1 neuronal calcium sensor 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 NCS-1 FREQ "frequenin (Drosophila) homolog|frequenin homolog (Drosophila)" EF-hand domain containing 863 2000-06-09 2010-01-27 2010-01-27 2023-01-20 23413 ENSG00000107130 OTTHUMG00000020801 uc004bzi.2 AF186409 NM_014286 "CCDS6932|CCDS78448" P62166 "11092894|26705828" MGI:109166 RGD:68417 603315 HGNC:3953 "ENST00000372398.6|NM_014286.4" +HGNC:3953 NCS1 neuronal calcium sensor 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 NCS-1 FREQ "frequenin (Drosophila) homolog|frequenin homolog (Drosophila)" EF-hand domain containing 863 2000-06-09 2010-01-27 2010-01-27 2023-01-20 23413 ENSG00000107130 OTTHUMG00000020801 uc004bzi.2 AF186409 NM_014286 "CCDS78448|CCDS6932" P62166 "11092894|26705828" MGI:109166 RGD:68417 603315 HGNC:3953 "ENST00000372398.6|NM_014286.4" HGNC:17091 NCSTN nicastrin protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "KIAA0253|APH2" 2005-02-08 2023-03-15 23385 ENSG00000162736 OTTHUMG00000033110 uc001fvx.4 AF240468 NM_015331 "CCDS91084|CCDS1203" Q92542 "9039502|10993067" MGI:1891700 RGD:631418 LRG_223|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_223.xml 605254 268347 HGNC:17091 "ENST00000294785.10|NM_015331.3" HGNC:17091 HGNC:39606 NCSTNP1 nicastrin pseudogene 1 pseudogene pseudogene Approved 21q21.3 21q21.3 2011-03-17 2011-03-17 100873743 ENSG00000219592 OTTHUMG00000078705 NG_032328 HGNC:39606 HGNC:25525 NDC1 NDC1 transmembrane nucleoporin protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "FLJ10407|NET3" nuclear division cycle 1 homolog (S. cerevisiae) TMEM48 transmembrane protein 48 Nucleoporins 1051 2005-04-22 2013-05-23 2013-05-23 2023-01-20 55706 ENSG00000058804 OTTHUMG00000008073 AL354613 NM_018087 CCDS583 Q9BTX1 "16779818|12958361" MGI:1920037 RGD:1560173 610115 HGNC:25525 "ENST00000371429.4|NM_018087.5" @@ -22311,20 +22313,20 @@ HGNC:40844 NDFIP2-AS1 NDFIP2 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:7675 NDN necdin, MAGE family member protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "HsT16328|PWCR" Prader-Willi syndrome chromosome region "necdin homolog (mouse)|necdin, melanoma antigen (MAGE) family member" MAGE family 1136 1997-10-13 2015-11-13 2023-01-20 4692 ENSG00000182636 OTTHUMG00000129161 uc001ywk.4 U35139 NM_002487 CCDS10014 Q99608 9302265 MGI:97290 RGD:1310526 LRG_1047|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1047.xml 602117 123710 HGNC:7675 "ENST00000649030.2|NM_002487.3" HGNC:26256 NDNF neuron derived neurotrophic factor protein-coding gene gene with protein product Approved 4q27 04q27 FLJ23191 C4orf31 chromosome 4 open reading frame 31 2006-07-17 2011-07-05 2016-06-14 2023-01-20 79625 ENSG00000173376 OTTHUMG00000132973 uc003idq.2 BC019351 NM_024574 CCDS3717 Q8TB73 "12975309|20969804" MGI:1915419 RGD:1311080 616506 HGNC:26256 "ENST00000379692.9|NM_024574.4" HGNC:26256 HGNC:55553 NDNF-AS1 NDNF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q27 04q27 Antisense RNAs 1987 2021-03-25 2021-03-25 105377400 ENSG00000250344 XR_001741805 -HGNC:29838 NDOR1 NADPH dependent diflavin oxidoreductase 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NR1|bA350O14.9|CIAE1" NADPH dependent FMN and FAD containing oxidoreductase Cytosolic iron-sulfur assembly components 1028 2004-05-17 2023-01-20 27158 ENSG00000188566 OTTHUMG00000020986 uc004clw.4 BC015735 NM_014434 "CCDS48063|CCDS48062|CCDS48061|CCDS7036" Q9UHB4 "10625700|12631275" MGI:1926047 RGD:1308479 606073 HGNC:29838 "ENST00000684003.1|NM_014434.4" +HGNC:29838 NDOR1 NADPH dependent diflavin oxidoreductase 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NR1|bA350O14.9|CIAE1" NADPH dependent FMN and FAD containing oxidoreductase Cytosolic iron-sulfur assembly components 1028 2004-05-17 2023-01-20 27158 ENSG00000188566 OTTHUMG00000020986 uc004clw.4 BC015735 NM_014434 "CCDS48061|CCDS7036|CCDS48062|CCDS48063" Q9UHB4 "10625700|12631275" MGI:1926047 RGD:1308479 606073 HGNC:29838 "ENST00000684003.1|NM_014434.4" HGNC:7678 NDP norrin cystine knot growth factor NDP protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 norrin EVR2 "exudative vitreoretinopathy 2 (X-linked)|Norrie disease (pseudoglioma)" Receptor ligands 542 2001-06-22 2019-01-21 2023-01-20 4693 ENSG00000124479 OTTHUMG00000021391 uc004dga.5 X65882 NM_000266 CCDS14262 Q00604 8252044 MGI:102570 RGD:1563968 Mutations of the Norrie Disease Gene|http://www.retina-international.org/files/sci-news/ndgmut.htm 300658 123713 ligandId:1063 HGNC:7678 "ENST00000642620.1|NM_000266.4" HGNC:7678 HGNC:40395 NDP-AS1 NDP antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 NDP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873919 ENSG00000236276 OTTHUMG00000021390 uc064yrp.1 NR_046631 NDP-AS1 HGNC:40395 HGNC:7679 NDRG1 N-myc downstream regulated 1 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "DRG1|RTP|TDD5|NDR1" CAP43 NDRG family 1842 1998-12-23 2008-09-12 2023-03-15 10397 ENSG00000104419 OTTHUMG00000164441 uc003yuh.3 X92845 NM_001135242 "CCDS34945|CCDS59113" Q92597 "9251681|8939898|18455888" MGI:1341799 RGD:1307303 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_258|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_258.xml" NDRG1 605262 123716 S33.988 HGNC:7679 "ENST00000323851.13|NM_006096.4" HGNC:7679 -HGNC:14460 NDRG2 NDRG family member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA1248|SYLD" "MicroRNA protein coding host genes|NDRG family" "1691|1842" 2001-01-24 2023-01-20 57447 ENSG00000165795 OTTHUMG00000029619 uc001vzd.3 AB033074 NM_001282211 "CCDS9565|CCDS61386|CCDS73613|CCDS9564|CCDS61384" Q9UN36 10831399 MGI:1352498 RGD:621874 605272 S33.989 HGNC:14460 "ENST00000556147.6|NM_001320329.2" +HGNC:14460 NDRG2 NDRG family member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA1248|SYLD" "MicroRNA protein coding host genes|NDRG family" "1691|1842" 2001-01-24 2023-01-20 57447 ENSG00000165795 OTTHUMG00000029619 uc001vzd.3 AB033074 NM_001282211 "CCDS9565|CCDS61386|CCDS9564|CCDS61384|CCDS73613" Q9UN36 10831399 MGI:1352498 RGD:621874 605272 S33.989 HGNC:14460 "ENST00000556147.6|NM_001320329.2" HGNC:14462 NDRG3 NDRG family member 3 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 NDRG family 1842 2001-01-24 2023-01-20 57446 ENSG00000101079 OTTHUMG00000032398 uc002xfw.4 AL031662 NM_022477 "CCDS13284|CCDS13285" Q9UGV2 "10831399|17998568" MGI:1352499 RGD:1359424 605273 S33.987 HGNC:14462 "ENST00000349004.6|NM_032013.4" -HGNC:14466 NDRG4 NDRG family member 4 protein-coding gene gene with protein product Approved 16q21 16q21 "KIAA1180|SMAP-8" NDRG family 1842 2001-01-25 2023-01-20 65009 ENSG00000103034 OTTHUMG00000133485 uc059vaz.1 AB044947 NM_001130487 "CCDS58465|CCDS55999|CCDS10797|CCDS86532|CCDS58467|CCDS58466|CCDS45500" Q9ULP0 "11352569|16408304" MGI:2384590 RGD:621593 614463 S33.986 HGNC:14466 "ENST00000570248.6|NM_001242835.2" -HGNC:7680 NDST1 N-deacetylase and N-sulfotransferase 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 NST1 "[Heparan sulfate]-glucosamine N-sulfotransferase 1|N-Deacetylase-N-sulfotransferase 1|heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1" HSST N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 Sulfotransferases, membrane bound 763 1995-08-10 2016-07-05 2023-01-20 3340 ENSG00000070614 OTTHUMG00000163572 uc003lsk.4 U18918 NM_001543 "CCDS34277|CCDS75358" P52848 "7601448|9230113" MGI:104719 RGD:69303 600853 414701 2.8.2.8 HGNC:7680 "ENST00000261797.7|NM_001543.5" HGNC:7680 +HGNC:14466 NDRG4 NDRG family member 4 protein-coding gene gene with protein product Approved 16q21 16q21 "KIAA1180|SMAP-8" NDRG family 1842 2001-01-25 2023-01-20 65009 ENSG00000103034 OTTHUMG00000133485 uc059vaz.1 AB044947 NM_001130487 "CCDS10797|CCDS58465|CCDS45500|CCDS58467|CCDS58466|CCDS86532|CCDS55999" Q9ULP0 "11352569|16408304" MGI:2384590 RGD:621593 614463 S33.986 HGNC:14466 "ENST00000570248.6|NM_001242835.2" +HGNC:7680 NDST1 N-deacetylase and N-sulfotransferase 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 NST1 "[Heparan sulfate]-glucosamine N-sulfotransferase 1|N-Deacetylase-N-sulfotransferase 1|heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1" HSST N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 Sulfotransferases, membrane bound 763 1995-08-10 2016-07-05 2023-01-20 3340 ENSG00000070614 OTTHUMG00000163572 uc003lsk.4 U18918 NM_001543 "CCDS75358|CCDS34277" P52848 "7601448|9230113" MGI:104719 RGD:69303 600853 414701 2.8.2.8 HGNC:7680 "ENST00000261797.7|NM_001543.5" HGNC:7680 HGNC:52899 NDST1-AS1 NDST1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q33.1 05q33.1 Antisense RNAs 1987 2016-12-16 2016-12-16 102546298 ENSG00000254333 OTTHUMG00000163588 NR_105061 HGNC:52899 -HGNC:7681 NDST2 N-deacetylase and N-sulfotransferase 2 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "NST2|HSST2" N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 Sulfotransferases, membrane bound 763 1998-10-09 2016-07-05 2023-01-20 8509 ENSG00000166507 OTTHUMG00000018489 uc001jvk.3 U36601 NM_003635 "CCDS81476|CCDS7335" P52849 9601056 MGI:97040 RGD:1304700 603268 2.8.2.8 HGNC:7681 "ENST00000309979.11|NM_003635.4" HGNC:7681 +HGNC:7681 NDST2 N-deacetylase and N-sulfotransferase 2 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "NST2|HSST2" N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 Sulfotransferases, membrane bound 763 1998-10-09 2016-07-05 2023-01-20 8509 ENSG00000166507 OTTHUMG00000018489 uc001jvk.3 U36601 NM_003635 "CCDS7335|CCDS81476" P52849 9601056 MGI:97040 RGD:1304700 603268 2.8.2.8 HGNC:7681 "ENST00000309979.11|NM_003635.4" HGNC:7681 HGNC:7682 NDST3 N-deacetylase and N-sulfotransferase 3 protein-coding gene gene with protein product Approved 4q26 04q26 HSST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 Sulfotransferases, membrane bound 763 1999-03-22 2016-07-05 2023-01-20 9348 ENSG00000164100 OTTHUMG00000132959 uc003ibx.4 AF074924 NM_004784 CCDS3708 O95803 9915799 MGI:1932544 RGD:1310960 603950 2.8.2.8 HGNC:7682 "ENST00000296499.6|NM_004784.3" HGNC:20779 NDST4 N-deacetylase and N-sulfotransferase 4 protein-coding gene gene with protein product Approved 4q26 04q26 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 Sulfotransferases, membrane bound 763 2004-01-12 2016-07-05 2023-01-20 64579 ENSG00000138653 OTTHUMG00000132916 uc003ibu.4 AB036429 NM_022569 CCDS3706 Q9H3R1 11087757 MGI:1932545 RGD:1306531 615039 2.8.2.8 HGNC:20779 "ENST00000264363.7|NM_022569.3" HGNC:7683 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 protein-coding gene gene with protein product Approved Xq24 Xq24 "MWFE|CI-MWFE" "NADH:ubiquinone oxidoreductase (complex 1)|type I dehydrogenase|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)|complex I MWFE subunit" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-08-16 2015-11-20 2023-01-20 4694 ENSG00000125356 OTTHUMG00000022287 uc004esc.5 NM_004541 CCDS14590 O15239 8938439 MGI:1929511 RGD:1560955 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NDUFA1 300078 139187 HGNC:7683 "ENST00000371437.5|NM_004541.4" HGNC:7683 -HGNC:7685 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 B8 complex I B8 subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-08-30 2015-11-20 2023-01-20 4695 ENSG00000131495 OTTHUMG00000129505 uc003lgp.4 AF047185 NM_002488 "CCDS54911|CCDS4234" O43678 "9425316|9763676" MGI:1343103 RGD:1309997 602137 252455 HGNC:7685 "ENST00000252102.9|NM_002488.5" HGNC:7685 +HGNC:7685 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 B8 complex I B8 subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-08-30 2015-11-20 2023-01-20 4695 ENSG00000131495 OTTHUMG00000129505 uc003lgp.4 AF047185 NM_002488 "CCDS4234|CCDS54911" O43678 "9425316|9763676" MGI:1343103 RGD:1309997 602137 252455 HGNC:7685 "ENST00000252102.9|NM_002488.5" HGNC:7685 HGNC:7686 NDUFA3 NADH:ubiquinone oxidoreductase subunit A3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 B9 complex I B9 subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9kD, B9)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-08-30 2015-11-20 2023-01-20 4696 ENSG00000170906 OTTHUMG00000064972 uc061cmg.1 AF044955 NM_004542 CCDS12877 O95167 9878551 MGI:1913341 RGD:1588687 603832 470732 HGNC:7686 "ENST00000485876.6|NM_004542.4" HGNC:45043 NDUFA3P1 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 1 pseudogene pseudogene Approved 19q13.31 19q13.31 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 1 2013-01-25 2015-11-20 2015-11-20 100131388 ENSG00000267590 OTTHUMG00000182355 NG_030059 PGOHUM00000234718 HGNC:45043 HGNC:45051 NDUFA3P2 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 2 pseudogene pseudogene Approved 11q13.2 11q13.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 2 2013-02-04 2015-11-20 2015-11-20 106479051 ENSG00000254856 OTTHUMG00000167668 NG_044507 PGOHUM00000242346 HGNC:45051 @@ -22332,11 +22334,11 @@ HGNC:45052 NDUFA3P3 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 3 pseud HGNC:45053 NDUFA3P4 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 4 pseudogene pseudogene Approved 15q26.1 15q26.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 4 2013-02-04 2015-11-20 2015-11-20 106480806 ENSG00000259262 OTTHUMG00000172360 NG_044209 PGOHUM00000247270 HGNC:45053 HGNC:45054 NDUFA3P5 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 5 pseudogene pseudogene Approved 13q32.1 13q32.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 5 2013-02-04 2015-11-20 2015-11-20 112272577 NG_066012 PGOHUM00000248663 HGNC:45054 HGNC:45055 NDUFA3P6 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 6 pseudogene pseudogene Approved 16p11.2 16p11.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 6 2013-02-04 2015-11-20 2015-11-20 106479052 ENSG00000262366 OTTHUMG00000177742 NG_044517 PGOHUM00000249056 HGNC:45055 -HGNC:7687 NDUFA4 NDUFA4 mitochondrial complex associated protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "MLRQ|CI-9k|COXFA4|MRCAF1|MISTR1" "complex I 9kDa subunit|NADH-ubiquinone oxidoreductase MLRQ subunit|cytochrome c oxidase subunit FA4|mitochondrial respiratory chain associated factor 1|mitochondrial stress response 1" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa|NDUFA4, mitochondrial complex associated" 1996-08-30 2019-01-25 2023-06-05 4697 ENSG00000189043 OTTHUMG00000023880 uc003srx.3 U94586 NM_002489 CCDS5357 O00483 "9352085|22902835|30030519|31419492" MGI:107686 RGD:1584719 603833 396654 HGNC:7687 "ENST00000339600.6|NM_002489.4" HGNC:7687 +HGNC:7687 NDUFA4 NDUFA4 mitochondrial complex associated protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "MLRQ|CI-9k|COXFA4|MRCAF1|MISTR1" "complex I 9kDa subunit|NADH-ubiquinone oxidoreductase MLRQ subunit|cytochrome c oxidase subunit FA4|mitochondrial respiratory chain associated factor 1|mitochondrial stress response 1" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa|NDUFA4, mitochondrial complex associated" 1996-08-30 2019-01-25 2023-06-08 4697 ENSG00000189043 OTTHUMG00000023880 uc003srx.3 U94586 NM_002489 CCDS5357 O00483 "9352085|22902835|30030519|31419492" MGI:107686 RGD:1584719 603833 396654 HGNC:7687 "ENST00000339600.6|NM_002489.4" HGNC:7687 HGNC:29836 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "NUOMS|FLJ26118|COXFA4L2|MISTRH" "NADH-ubiquinone oxidoreductase MLRQ subunit homolog|cytochrome c oxidase subunit FA4 like 2|mitochondrial stress response hypoxia" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2|NDUFA4, mitochondrial complex associated like 2" 2006-03-30 2019-01-25 2023-06-05 56901 ENSG00000185633 OTTHUMG00000171275 uc001sno.4 BC011910 NM_020142 CCDS8935 Q9NRX3 "22100406|28429857" MGI:3039567 RGD:2324558 HGNC:29836 "ENST00000554503.6|NM_001394961.1" HGNC:29835 NDUFA4P1 NDUFA4 pseudogene 1 pseudogene pseudogene Approved 1p13.3 01p13.3 "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 1|NDUFA4, mitochondrial complex associated pseudogene 1" 2006-03-30 2019-01-25 2020-04-06 360165 ENSG00000224550 OTTHUMG00000011031 AF206638 NG_002998 PGOHUM00000296437 HGNC:29835 HGNC:31362 NDUFA4P2 NDUFA4 pseudogene 2 pseudogene pseudogene Approved 3q13.11 03q13.11 bcm1723 NDUFA4L "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 2|NDUFA4, mitochondrial complex associated pseudogene 2" 2004-03-12 2010-05-07 2019-01-25 2019-01-25 100287880 ENSG00000236691 OTTHUMG00000159095 NG_022262 PGOHUM00000238120 HGNC:31362 -HGNC:7688 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "B13|NUFM|CI-13KD-B|UQOR13|CI-13kB" "complex I 13kDa subunit B|ubiquinone reductase|type I dehydrogenase|NADH-ubiquinone oxidoreductase 13 kDa-B subunit" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-08-30 2015-11-20 2023-01-20 4698 ENSG00000128609 OTTHUMG00000157348 uc033afk.2 NM_005000 "CCDS75655|CCDS64760|CCDS5788|CCDS75656" Q16718 "9763677|9021153" MGI:1915452 RGD:3155 601677 470734 HGNC:7688 "ENST00000355749.7|NM_005000.5" +HGNC:7688 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "B13|NUFM|CI-13KD-B|UQOR13|CI-13kB" "complex I 13kDa subunit B|ubiquinone reductase|type I dehydrogenase|NADH-ubiquinone oxidoreductase 13 kDa-B subunit" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-08-30 2015-11-20 2023-01-20 4698 ENSG00000128609 OTTHUMG00000157348 uc033afk.2 NM_005000 "CCDS5788|CCDS64760|CCDS75656|CCDS75655" Q16718 "9763677|9021153" MGI:1915452 RGD:3155 601677 470734 HGNC:7688 "ENST00000355749.7|NM_005000.5" HGNC:7689 NDUFA5P1 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 1 pseudogene pseudogene Approved 11p15.4 11p15.4 "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, pseudogene 1|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 1" 1997-04-25 2015-11-20 2015-11-20 4699 ENSG00000232390 OTTHUMG00000011713 NG_031920 9021153 PGOHUM00000242554 HGNC:7689 HGNC:48855 NDUFA5P2 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 2 pseudogene pseudogene Approved 8q22.3 08q22.3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 2 2013-06-19 2015-11-20 2015-11-20 102724035 ENSG00000253454 OTTHUMG00000164813 NG_034088 PGOHUM00000249768 HGNC:48855 HGNC:48845 NDUFA5P3 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 3 pseudogene pseudogene Approved 9p22.1 09p22.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 3 2013-06-19 2015-11-20 2015-11-20 100288035 ENSG00000234853 OTTHUMG00000019641 NG_021609 PGOHUM00000235980 HGNC:48845 @@ -22356,9 +22358,9 @@ HGNC:7692 NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 protein-coding gene g HGNC:52264 NDUFA8P1 NADH:ubiquinone oxidoreductase subunit A8 pseudogene 1 pseudogene pseudogene Approved 10q22.2 10q22.2 2015-11-20 2015-11-20 107075207 ENSG00000271710 OTTHUMG00000184746 NG_046539 PGOHUM00000289907 HGNC:52264 HGNC:7693 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 protein-coding gene gene with protein product Approved 12p13.3 12p13.3 "SDR22E1|CI-39k|COQ11" "short chain dehydrogenase/reductase family 22E, member 1|complex I 39kDa subunit" NDUFS2L "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa" "Short chain dehydrogenase/reductase superfamily|NADH:ubiquinone oxidoreductase supernumerary subunits" "743|1150" 1997-12-17 2015-11-20 2023-01-20 4704 ENSG00000139180 OTTHUMG00000168224 uc001qnc.4 AF050641 NM_005002 CCDS8532 Q16795 "8486360|19027726" MGI:1913358 RGD:1307307 603834 291742 HGNC:7693 "ENST00000266544.10|NM_005002.5" HGNC:7693 HGNC:19252 NDUFA9P1 NADH:ubiquinone oxidoreductase subunit A9 pseudogene 1 pseudogene pseudogene Approved 22q12.3 22q12.3 dJ106I20.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 2002-09-18 2015-11-20 2015-11-20 266625 ENSG00000237406 OTTHUMG00000150636 AF196991 NG_002366 PGOHUM00000246321 HGNC:19252 -HGNC:7684 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 CI-42k complex I 42kDa subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2023-01-20 4705 ENSG00000130414 OTTHUMG00000133350 uc002vyn.3 AF087661 NM_004544 "CCDS2531|CCDS92983|CCDS92984|CCDS92982" O95299 9878551 MGI:1914523 RGD:727968 603835 265457 HGNC:7684 "ENST00000252711.7|NM_004544.4" HGNC:7684 +HGNC:7684 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 CI-42k complex I 42kDa subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2023-01-20 4705 ENSG00000130414 OTTHUMG00000133350 uc002vyn.3 AF087661 NM_004544 "CCDS92984|CCDS92983|CCDS2531|CCDS92982" O95299 9878551 MGI:1914523 RGD:727968 603835 265457 HGNC:7684 "ENST00000252711.7|NM_004544.4" HGNC:7684 HGNC:20371 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 B14.7 complex I B14.7 subunit NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa "NADH:ubiquinone oxidoreductase supernumerary subunits|Tim17 family" "1150|1857" 2003-12-03 2015-11-20 2023-01-20 126328 ENSG00000174886 OTTHUMG00000180617 uc002mdq.3 AJ539081 NM_175614 "CCDS12155|CCDS54203" Q86Y39 12381726 MGI:1917125 RGD:1303292 612638 183907 HGNC:20371 "ENST00000308961.5|NM_175614.5" HGNC:20371 -HGNC:23987 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 protein-coding gene gene with protein product Approved 12q22 12q22 "DAP13|B17.2" complex I B17.2 subunit NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 NADH:ubiquinone oxidoreductase supernumerary subunits 1150 2005-07-19 2015-11-20 2023-01-20 55967 ENSG00000184752 OTTHUMG00000170098 uc001tdl.5 BC005936 NM_018838 "CCDS9050|CCDS58263" Q9UI09 "10830904|9827566" MGI:1913664 RGD:1311462 614530 437867 HGNC:23987 "ENST00000327772.7|NM_018838.5" HGNC:23987 +HGNC:23987 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 protein-coding gene gene with protein product Approved 12q22 12q22 "DAP13|B17.2" complex I B17.2 subunit NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 NADH:ubiquinone oxidoreductase supernumerary subunits 1150 2005-07-19 2015-11-20 2023-01-20 55967 ENSG00000184752 OTTHUMG00000170098 uc001tdl.5 BC005936 NM_018838 "CCDS58263|CCDS9050" Q9UI09 "10830904|9827566" MGI:1913664 RGD:1311462 614530 437867 HGNC:23987 "ENST00000327772.7|NM_018838.5" HGNC:23987 HGNC:39419 NDUFA12P1 NADH:ubiquinone oxidoreductase subunit A12 pseudogene 1 pseudogene pseudogene Approved 13q32.3 13q32.3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 pseudogene 1 2010-12-03 2015-11-20 2015-11-20 100527945 ENSG00000225999 OTTHUMG00000017281 NG_027984 PGOHUM00000248481 HGNC:39419 HGNC:17194 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "CGI-39|CDA016|GRIM-19|GRIM19|B16.6" complex I B16.6 subunit NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 NADH:ubiquinone oxidoreductase supernumerary subunits 1150 2005-07-20 2015-11-20 2023-01-20 51079 ENSG00000186010 OTTHUMG00000162211 uc021uqu.2 AF261134 NM_015965 CCDS12404 Q9P0J0 "12837546|10924506|15367666" MGI:1914434 RGD:6492821 609435 377743 HGNC:17194 "ENST00000507754.9|NM_015965.7" HGNC:17194 HGNC:7694 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "SDAP|FASN2A|ACP|ACP1" "acyl carrier protein, mitochondrial|complex I SDAP subunit" "NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1 (8kD, SDAP)|NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2023-01-20 4706 ENSG00000004779 OTTHUMG00000096985 uc002dlw.4 AF087660 NM_005003 CCDS10614 O14561 "9763677|9878551" MGI:1917566 RGD:1305619 603836 470742 HGNC:7694 "ENST00000007516.8|NM_005003.3" @@ -22375,7 +22377,7 @@ HGNC:44542 NDUFAF4P3 NADH:ubiquinone oxidoreductase complex assembly factor 4 ps HGNC:44543 NDUFAF4P4 NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 4 pseudogene pseudogene Approved 1q25.1 01q25.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 4 2012-11-15 2015-12-16 2015-12-16 100128889 ENSG00000231378 OTTHUMG00000034937 NG_030201 PGOHUM00000244344 HGNC:44543 HGNC:15899 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 dJ842G6.1 C20orf7 "chromosome 20 open reading frame 7|NADH dehydrogenase (ubiquinone) complex I, assembly factor 5" "Mitochondrial respiratory chain complex assembly factors|Seven-beta-strand methyltransferase motif containing" "645|1400" 2001-06-21 2012-05-08 2015-12-16 2023-03-15 79133 ENSG00000101247 OTTHUMG00000031909 uc002wom.4 NM_001039375 "CCDS33441|CCDS13118" Q5TEU4 "18940309|21607760" MGI:1916737 RGD:1309829 612360 169395 HGNC:15899 "ENST00000378106.10|NM_024120.5" HGNC:15899 HGNC:28625 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 MGC40214 C8orf38 "chromosome 8 open reading frame 38|NADH dehydrogenase (ubiquinone) complex I, assembly factor 6" "Mitochondrial respiratory chain complex assembly factors|MicroRNA protein coding host genes" "645|1691" 2005-07-27 2012-05-08 2015-12-16 2023-01-20 137682 ENSG00000156170 OTTHUMG00000150173 uc003yhj.4 BC028166 NM_152416 "CCDS83307|CCDS6266" Q330K2 "22019594|23509070" MGI:1924197 RGD:1309085 612392 169399 HGNC:28625 "ENST00000396124.9|NM_152416.4" HGNC:28625 -HGNC:28816 NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "PRO1853|MidA" mitochondrial dysfunction protein A homolog C2orf56 "chromosome 2 open reading frame 56|NADH dehydrogenase (ubiquinone) complex I, assembly factor 7" "Mitochondrial respiratory chain complex assembly factors|7BS protein arginine methyltranferases" "645|2057" 2007-05-31 2012-10-12 2015-12-16 2023-01-20 55471 ENSG00000003509 OTTHUMG00000128468 uc002rqa.6 NM_144736 "CCDS42673|CCDS1788" Q7L592 MGI:1920944 RGD:1311578 615898 470744 HGNC:28816 "ENST00000002125.9|NM_144736.5" +HGNC:28816 NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "PRO1853|MidA" mitochondrial dysfunction protein A homolog C2orf56 "chromosome 2 open reading frame 56|NADH dehydrogenase (ubiquinone) complex I, assembly factor 7" "Mitochondrial respiratory chain complex assembly factors|7BS protein arginine methyltranferases" "645|2057" 2007-05-31 2012-10-12 2015-12-16 2023-01-20 55471 ENSG00000003509 OTTHUMG00000128468 uc002rqa.6 NM_144736 "CCDS1788|CCDS42673" Q7L592 MGI:1920944 RGD:1311578 615898 470744 HGNC:28816 "ENST00000002125.9|NM_144736.5" HGNC:33551 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 C17orf89 chromosome 17 open reading frame 89 Mitochondrial respiratory chain complex assembly factors 645 2007-07-27 2016-08-02 2016-08-02 2023-01-20 284184 ENSG00000224877 OTTHUMG00000177867 uc002jzx.3 BC127837 NM_001086521 CCDS45809 A1L188 "17287340|27499296" MGI:1913676 RGD:1590963 618461 HGNC:33551 "ENST00000431388.3|NM_001086521.2" HGNC:33551 HGNC:7695 NDUFB1 NADH:ubiquinone oxidoreductase subunit B1 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "MNLL|CI-MNLL" complex I MNLL subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-11-15 2015-11-20 2023-01-20 4707 ENSG00000183648 OTTHUMG00000171180 uc001yaf.4 BC104672 NM_004545 CCDS9901 O75438 9763677 MGI:3780865 RGD:6487218 603837 470746 HGNC:7695 "ENST00000605997.6|NM_004545.4" HGNC:30893 NDUFB1P1 NADH:ubiquinone oxidoreductase subunit B1 pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 bcm3095 NDUFB1P "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 1" 2008-01-31 2010-02-26 2015-11-20 2015-11-20 100190952 ENSG00000231884 OTTHUMG00000156836 NG_008709 PGOHUM00000299432 HGNC:30893 @@ -22389,7 +22391,7 @@ HGNC:13674 NDUFB3P2 NADH:ubiquinone oxidoreductase subunit B3 pseudogene 2 pseud HGNC:13675 NDUFB3P3 NADH:ubiquinone oxidoreductase subunit B3 pseudogene 3 pseudogene pseudogene Approved 14q22.1 14q22.1 "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12) pseudogene 3|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 3" 2000-09-28 2015-11-20 2015-11-20 93996 NG_000957 11474204 HGNC:13675 HGNC:13676 NDUFB3P4 NADH:ubiquinone oxidoreductase subunit B3 pseudogene 4 pseudogene pseudogene Approved 14q32.2 14q32.2 "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12) pseudogene 4|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 4" 2000-09-28 2015-11-20 2015-11-20 93995 NG_000956 11474204 HGNC:13676 HGNC:13677 NDUFB3P5 NADH:ubiquinone oxidoreductase subunit B3 pseudogene 5 pseudogene pseudogene Approved Xq27.2 Xq27.2 "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12) pseudogene 5|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 5" 2000-09-28 2015-11-20 2020-07-15 93997 ENSG00000227779 NG_000958 HGNC:13677 -HGNC:7699 NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 B15 complex I B15 subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-09 2015-11-20 2023-01-20 4710 ENSG00000065518 OTTHUMG00000159442 uc003edu.4 AF044957 NM_004547 "CCDS2999|CCDS54630" O95168 9878551 MGI:1915444 RGD:1307072 603840 HGNC:7699 "ENST00000184266.3|NM_004547.6" +HGNC:7699 NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 B15 complex I B15 subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-09 2015-11-20 2023-01-20 4710 ENSG00000065518 OTTHUMG00000159442 uc003edu.4 AF044957 NM_004547 "CCDS54630|CCDS2999" O95168 9878551 MGI:1915444 RGD:1307072 603840 HGNC:7699 "ENST00000184266.3|NM_004547.6" HGNC:45248 NDUFB4P1 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene 1 2013-03-11 2015-11-20 2015-11-20 100288654 ENSG00000242510 OTTHUMG00000158738 NG_030111 PGOHUM00000299456 HGNC:45248 HGNC:45250 NDUFB4P2 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 2 pseudogene pseudogene Approved 5q11.2 05q11.2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene 2 2013-03-11 2015-11-20 2015-11-20 100132036 ENSG00000251306 OTTHUMG00000162215 NG_027957 PGOHUM00000300966 HGNC:45250 HGNC:45251 NDUFB4P3 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2015-11-20 2015-11-20 100288420 ENSG00000231096 OTTHUMG00000059509 NG_030100 PGOHUM00000294315 HGNC:45251 @@ -22407,7 +22409,7 @@ HGNC:52267 NDUFB5P1 NADH:ubiquinone oxidoreductase subunit B5 pseudogene 1 pseud HGNC:52268 NDUFB5P2 NADH:ubiquinone oxidoreductase subunit B5 pseudogene 2 pseudogene pseudogene Approved Xq21.33 Xq21.33 2015-11-20 2015-11-20 100422431 ENSG00000214628 OTTHUMG00000021988 NG_026737 PGOHUM00000304767 HGNC:52268 HGNC:7701 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "B17|CI" "NADH-ubiquinone oxidoreductase beta subunit, 6|NADH-ubiquinone oxidoreductase B17 subunit|complex I, mitochondrial respiratory chain, B17 subunit" "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-09 2015-11-20 2023-01-20 4712 ENSG00000165264 OTTHUMG00000019741 uc003zre.3 AF035840 NM_002493 "CCDS6529|CCDS75826|CCDS6528" O95139 "9763677|9760212" MGI:2684983 RGD:1311354 603322 470752 HGNC:7701 "ENST00000379847.8|NM_002493.5" HGNC:7702 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "B18|CI-B18|MGC2480" "NADH-ubiquinone oxidoreductase B18 subunit|complex I B18 subunit" "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-09 2015-11-20 2023-01-20 4713 ENSG00000099795 OTTHUMG00000183291 uc002mzg.4 NM_004146 CCDS12314 P17568 "9763677|10830904" MGI:1914166 RGD:1308550 603842 470754 HGNC:7702 "ENST00000215565.3|NM_004146.6" -HGNC:7703 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "ASHI|CI-ASHI" complex I ASHI subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-10-18 2015-11-20 2023-01-20 4714 ENSG00000166136 OTTHUMG00000019346 uc001kri.3 AF044958 NM_005004 "CCDS65917|CCDS65916|CCDS7497" O95169 9763676 MGI:1914514 RGD:1309129 602140 470756 HGNC:7703 "ENST00000299166.9|NM_005004.4" HGNC:7703 +HGNC:7703 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "ASHI|CI-ASHI" complex I ASHI subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-10-18 2015-11-20 2023-01-20 4714 ENSG00000166136 OTTHUMG00000019346 uc001kri.3 AF044958 NM_005004 "CCDS65917|CCDS7497|CCDS65916" O95169 9763676 MGI:1914514 RGD:1309129 602140 470756 HGNC:7703 "ENST00000299166.9|NM_005004.4" HGNC:7703 HGNC:20023 NDUFB8P1 NADH:ubiquinone oxidoreductase subunit B8 pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 1 2003-01-13 2015-11-20 2017-10-26 326606 ENSG00000258972 OTTHUMG00000171641 NG_002595 PGOHUM00000292722 HGNC:20023 HGNC:33978 NDUFB8P2 NADH:ubiquinone oxidoreductase subunit B8 pseudogene 2 pseudogene pseudogene Approved 17q23.1 17q23.1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 2 2008-01-31 2015-11-20 2017-10-26 729565 ENSG00000270264 OTTHUMG00000184889 XR_015999 PGOHUM00000294490 HGNC:33978 HGNC:33979 NDUFB8P3 NADH:ubiquinone oxidoreductase subunit B8 pseudogene 3 pseudogene pseudogene Approved 11p13 11p13 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 3 2008-01-31 2015-11-20 2015-11-20 100132286 NG_007868 HGNC:33979 @@ -22418,13 +22420,13 @@ HGNC:52271 NDUFB9P3 NADH:ubiquinone oxidoreductase subunit B9 pseudogene 3 pseud HGNC:7696 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 PDSW complex I PDSW subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-09 2015-11-20 2023-01-20 4716 ENSG00000140990 OTTHUMG00000128709 uc002cni.3 AF044954 NM_004548 CCDS10451 O96000 "9763677|9878551" MGI:1915592 RGD:1310782 603843 470748 HGNC:7696 "ENST00000268668.11|NM_004548.3" HGNC:7696 HGNC:52272 NDUFB10P1 NADH:ubiquinone oxidoreductase subunit B10 pseudogene 1 pseudogene pseudogene Approved 15q21.3 15q21.3 2015-11-20 2015-11-20 100128711 ENSG00000260870 OTTHUMG00000176412 NG_022109 PGOHUM00000292958 HGNC:52272 HGNC:52273 NDUFB10P2 NADH:ubiquinone oxidoreductase subunit B10 pseudogene 2 pseudogene pseudogene Approved 7q34 07q34 2015-11-20 2015-11-20 107075304 ENSG00000261624 OTTHUMG00000172760 NG_068466 PGOHUM00000302966 -HGNC:20372 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "ESSS|NP17.3|Np15" complex I NP17.3 subunit NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa NADH:ubiquinone oxidoreductase supernumerary subunits 1150 2004-09-02 2015-11-20 2023-01-20 54539 ENSG00000147123 OTTHUMG00000021433 uc004dhd.4 AF044213 NM_019056 "CCDS14273|CCDS48100" Q9NX14 "10544803|12381726" MGI:1349919 RGD:1563698 300403 426792 HGNC:20372 "ENST00000377811.4|NM_001135998.3" HGNC:20372 +HGNC:20372 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "ESSS|NP17.3|Np15" complex I NP17.3 subunit NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa NADH:ubiquinone oxidoreductase supernumerary subunits 1150 2004-09-02 2015-11-20 2023-01-20 54539 ENSG00000147123 OTTHUMG00000021433 uc004dhd.4 AF044213 NM_019056 "CCDS48100|CCDS14273" Q9NX14 "10544803|12381726" MGI:1349919 RGD:1563698 300403 426792 HGNC:20372 "ENST00000377811.4|NM_001135998.3" HGNC:20372 HGNC:33980 NDUFB11P1 NADH:ubiquinone oxidoreductase subunit B11 pseudogene 1 pseudogene pseudogene Approved 11q14.3 11q14.3 NDUFB11P "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, pseudogene|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, pseudogene 1" 2008-01-31 2010-02-26 2015-11-20 2015-11-20 390239 ENSG00000235547 OTTHUMG00000154744 NG_009688 PGOHUM00000242424 HGNC:33980 HGNC:7705 NDUFC1 NADH:ubiquinone oxidoreductase subunit C1 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 KFYI complex I KFYI subunit "NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1 (6kD, KFYI)|NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2023-01-20 4717 ENSG00000109390 OTTHUMG00000133387 uc021xsd.1 AF047184 NM_002494 CCDS3746 O43677 "9425316|9763677" MGI:1913627 RGD:1586362 603844 470758 HGNC:7705 "ENST00000394223.2|NM_001184989.2" -HGNC:7706 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "B14.5b|HLC-1" "human lung cancer oncogene 1|complex I subunit B14.5b" "NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5kD, B14.5b)|NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2023-01-20 4718 ENSG00000151366 OTTHUMG00000166614 uc009yuw.4 AF087659 NM_004549 "CCDS8257|CCDS55781|CCDS55779" O95298 9878551 MGI:1344370 RGD:1307511 603845 470760 HGNC:7706 "ENST00000281031.5|NM_004549.6" HGNC:7706 +HGNC:7706 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "B14.5b|HLC-1" "human lung cancer oncogene 1|complex I subunit B14.5b" "NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5kD, B14.5b)|NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2023-01-20 4718 ENSG00000151366 OTTHUMG00000166614 uc009yuw.4 AF087659 NM_004549 "CCDS55779|CCDS8257|CCDS55781" O95298 9878551 MGI:1344370 RGD:1307511 603845 470760 HGNC:7706 "ENST00000281031.5|NM_004549.6" HGNC:7706 HGNC:42956 NDUFC2-KCTD14 NDUFC2-KCTD14 readthrough other readthrough Approved 11q14.1 11q14.1 2011-09-28 2023-03-15 100532726 ENSG00000259112 OTTHUMG00000171802 uc021qns.2 NM_001203260 E9PQ53 MGI:1344370 HGNC:42956 -HGNC:7707 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 CI-75k "complex I 75kDa subunit|NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase core subunits 1149 1992-04-03 2015-11-20 2023-01-20 4719 ENSG00000023228 OTTHUMG00000132892 uc002vbe.4 NM_005006 "CCDS56162|CCDS56163|CCDS2366|CCDS56164|CCDS56165" P28331 1935949 MGI:2443241 RGD:1359670 157655 123727 1.6.5.3 HGNC:7707 "ENST00000233190.11|NM_005006.7" HGNC:7707 -HGNC:7708 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 CI-49 "complex I 49kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase core subunits 1149 1992-06-30 2015-11-20 2023-01-20 4720 ENSG00000158864 OTTHUMG00000034344 uc001fyv.4 BC008868 NM_004550 "CCDS53404|CCDS91086|CCDS1224" O75306 "1832859|9585441" MGI:2385112 RGD:1307109 602985 123729 1.6.5.3 HGNC:7708 "ENST00000676972.1|NM_001377299.1" HGNC:7708 +HGNC:7707 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 CI-75k "complex I 75kDa subunit|NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase core subunits 1149 1992-04-03 2015-11-20 2023-01-20 4719 ENSG00000023228 OTTHUMG00000132892 uc002vbe.4 NM_005006 "CCDS56162|CCDS56163|CCDS56165|CCDS2366|CCDS56164" P28331 1935949 MGI:2443241 RGD:1359670 157655 123727 1.6.5.3 HGNC:7707 "ENST00000233190.11|NM_005006.7" HGNC:7707 +HGNC:7708 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 CI-49 "complex I 49kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase core subunits 1149 1992-06-30 2015-11-20 2023-01-20 4720 ENSG00000158864 OTTHUMG00000034344 uc001fyv.4 BC008868 NM_004550 "CCDS53404|CCDS1224|CCDS91086" O75306 "1832859|9585441" MGI:2385112 RGD:1307109 602985 123729 1.6.5.3 HGNC:7708 "ENST00000676972.1|NM_001377299.1" HGNC:7708 HGNC:7710 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 CI-30 "complex I 30kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase core subunits 1149 1995-11-08 2015-11-20 2023-01-20 4722 ENSG00000213619 OTTHUMG00000166893 uc001nga.3 AF067139 NM_004551 CCDS7941 O75489 9763677 MGI:1915599 RGD:1309406 603846 123731 1.6.5.3 HGNC:7710 "ENST00000263774.9|NM_004551.3" HGNC:7710 HGNC:7711 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "AQDQ|CI-18" complex I 18kDa subunit "NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1995-11-08 2015-11-20 2023-01-20 4724 ENSG00000164258 OTTHUMG00000096987 uc003jpe.3 AF020351 NM_002495 CCDS3960 O43181 "9463323|9763677" MGI:1343135 RGD:1594380 602694 123733 HGNC:7711 "ENST00000296684.10|NM_002495.4" HGNC:7711 HGNC:7712 NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 CI-15k "complex I 51kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 5" "NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1995-11-08 2015-11-20 2023-01-20 4725 ENSG00000168653 OTTHUMG00000007497 uc001ccx.4 AF047434 NM_004552 CCDS434 O43920 "9763677|9653160" MGI:1890889 RGD:1311081 603847 470762 HGNC:7712 "ENST00000372969.8|NM_004552.3" @@ -22446,45 +22448,45 @@ HGNC:50826 NDUFV2-AS1 NDUFV2 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:7718 NDUFV2P1 NADH:ubiquinone oxidoreductase core subunit V2 pseudogene 1 pseudogene pseudogene Approved 19q13.42 19q13.42 NADH dehydrogenase (ubiquinone) flavoprotein 2 pseudogene 1 1994-09-07 2015-11-20 2015-11-20 4730 ENSG00000267809 OTTHUMG00000182889 X84682 NG_001161 7607668 PGOHUM00000295119 HGNC:7718 HGNC:7719 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 CI-10k complex I 10kDa subunit "NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)|NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1994-09-07 2015-11-20 2023-01-20 4731 ENSG00000160194 OTTHUMG00000086823 uc002zcn.4 NM_001001503 "CCDS33572|CCDS33573" P56181 9344673 MGI:1890894 RGD:621020 602184 470764 1.6.5.3 HGNC:7719 "ENST00000354250.7|NM_021075.4" HGNC:30815 NEAT1 nuclear paraspeckle assembly transcript 1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 "TncRNA|MENepsilon/beta|LINC00084|VINC|TP53LC15" "trophoblast derived non-protein coding RNA|nuclear enriched abundant transcript 1|long intergenic non-protein coding RNA 84|virus inducible non-coding RNA" NCRNA00084 "non-protein coding RNA 84|nuclear paraspeckle assembly transcript 1 (non-protein coding)" "MicroRNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1992" 2008-09-02 2009-07-24 2018-05-16 2022-07-22 283131 ENSG00000245532 OTTHUMG00000166321 uc010rog.3 NR_028272 "9253601|9858482|19217333" MGI:1914211 612769 NEAT1 NEAT1 HGNC:30815 -HGNC:7720 NEB nebulin protein-coding gene gene with protein product Approved 2q23.3 02q23.3 NEB177D nemaline myopathy type 2 NEM2 Nebulin family 2240 2001-06-22 2023-03-15 4703 ENSG00000183091 OTTHUMG00000153784 uc031rpp.1 X83957 NM_004543 "CCDS54407|CCDS54408|CCDS46424" P20929 "10051637|9359044" MGI:97292 RGD:1311134 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=NEB|LRG_202|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_202.xml" 161650 123749 HGNC:7720 "ENST00000397345.8|NM_001164508.2" HGNC:7720 -HGNC:16932 NEBL nebulette protein-coding gene gene with protein product Approved 10p12.31 10p12.31 "LASP2|LNEBL|bA165O3.1" "LIM and SH3 protein 2|LIM-nebulette" C10orf113 chromosome 10 open reading frame 113 "LIM domain containing|Nebulin family" "1218|2240" 2004-05-27 2023-01-20 10529 ENSG00000078114 OTTHUMG00000017788 uc001iqk.4 Y16241 NM_006393 "CCDS7134|CCDS7133" O76041 "9733644|10470015" MGI:1921353 RGD:1308315 LRG_411|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_411.xml 605491 470766 HGNC:16932 "ENST00000377122.9|NM_006393.3" HGNC:16932 +HGNC:7720 NEB nebulin protein-coding gene gene with protein product Approved 2q23.3 02q23.3 NEB177D nemaline myopathy type 2 NEM2 Nebulin family 2240 2001-06-22 2023-03-15 4703 ENSG00000183091 OTTHUMG00000153784 uc031rpp.1 X83957 NM_004543 "CCDS46424|CCDS54407|CCDS54408" P20929 "10051637|9359044" MGI:97292 RGD:1311134 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=NEB|LRG_202|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_202.xml" 161650 123749 HGNC:7720 "ENST00000397345.8|NM_001164508.2" HGNC:7720 +HGNC:16932 NEBL nebulette protein-coding gene gene with protein product Approved 10p12.31 10p12.31 "LASP2|LNEBL|bA165O3.1" "LIM and SH3 protein 2|LIM-nebulette" C10orf113 chromosome 10 open reading frame 113 "LIM domain containing|Nebulin family" "1218|2240" 2004-05-27 2023-01-20 10529 ENSG00000078114 OTTHUMG00000017788 uc001iqk.4 Y16241 NM_006393 "CCDS7133|CCDS7134" O76041 "9733644|10470015" MGI:1921353 RGD:1308315 LRG_411|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_411.xml 605491 470766 HGNC:16932 "ENST00000377122.9|NM_006393.3" HGNC:16932 HGNC:44899 NEBL-AS1 NEBL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.31 10p12.31 Antisense RNAs 1987 2012-12-12 2012-12-12 100128511 ENSG00000231920 OTTHUMG00000017789 uc031ptk.3 NR_046283 NEBL-AS1 HGNC:44899 HGNC:20983 NECAB1 N-terminal EF-hand calcium binding protein 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 EFCBP1 EF-hand calcium binding protein 1 "N-terminal EF-hand calcium binding proteins|EF-hand domain containing" "663|863" 2003-04-30 2007-12-06 2007-12-06 2023-01-20 64168 ENSG00000123119 OTTHUMG00000164009 uc011lgg.3 AF414126 NM_022351 CCDS47889 Q8N987 MGI:1916602 RGD:708548 HGNC:20983 "ENST00000417640.7|NM_022351.5" -HGNC:23746 NECAB2 N-terminal EF-hand calcium binding protein 2 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 EFCBP2 EF-hand calcium binding protein 2 "N-terminal EF-hand calcium binding proteins|EF-hand domain containing" "663|863" 2004-01-27 2007-12-06 2007-12-06 2023-01-20 54550 ENSG00000103154 OTTHUMG00000137636 uc002fhd.4 AY299331 NM_019065 "CCDS10940|CCDS82019" Q7Z6G3 12044471 MGI:2152211 RGD:621844 618130 HGNC:23746 "ENST00000305202.9|NM_019065.3" -HGNC:15851 NECAB3 N-terminal EF-hand calcium binding protein 3 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "XB51|dJ63M2.4|NIP1|dJ63M2.5|EFCBP3" EF-hand calcium binding protein 3 "SYTIP2|APBA2BP" amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein "N-terminal EF-hand calcium binding proteins|EF-hand domain containing" "663|863" 2001-06-21 2007-12-06 2007-12-06 2023-01-20 63941 ENSG00000125967 OTTHUMG00000032264 uc002wzn.5 AB039947 NM_031231 "CCDS42867|CCDS42866" Q96P71 10833507 MGI:1861721 612478 HGNC:15851 "ENST00000246190.11|NM_031232.4" +HGNC:23746 NECAB2 N-terminal EF-hand calcium binding protein 2 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 EFCBP2 EF-hand calcium binding protein 2 "N-terminal EF-hand calcium binding proteins|EF-hand domain containing" "663|863" 2004-01-27 2007-12-06 2007-12-06 2023-01-20 54550 ENSG00000103154 OTTHUMG00000137636 uc002fhd.4 AY299331 NM_019065 "CCDS82019|CCDS10940" Q7Z6G3 12044471 MGI:2152211 RGD:621844 618130 HGNC:23746 "ENST00000305202.9|NM_019065.3" +HGNC:15851 NECAB3 N-terminal EF-hand calcium binding protein 3 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "XB51|dJ63M2.4|NIP1|dJ63M2.5|EFCBP3" EF-hand calcium binding protein 3 "SYTIP2|APBA2BP" amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein "N-terminal EF-hand calcium binding proteins|EF-hand domain containing" "663|863" 2001-06-21 2007-12-06 2007-12-06 2023-01-20 63941 ENSG00000125967 OTTHUMG00000032264 uc002wzn.5 AB039947 NM_031231 "CCDS42866|CCDS42867" Q96P71 10833507 MGI:1861721 612478 HGNC:15851 "ENST00000246190.11|NM_031232.4" HGNC:24539 NECAP1 NECAP endocytosis associated 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 DKFZP566B183 adaptin-ear-binding coat-associated protein 1 2005-08-15 2023-01-20 25977 ENSG00000089818 OTTHUMG00000168568 uc001qtx.3 AK074923 NM_015509 CCDS8589 Q8NC96 "14555962|15494011" MGI:1914852 RGD:1306053 611623 400742 HGNC:24539 "ENST00000339754.11|NM_015509.4" HGNC:24539 HGNC:43912 NECAP1P1 NECAP endocytosis associated 1 pseudogene 1 pseudogene pseudogene Approved 7p14.1 07p14.1 2012-05-02 2014-11-19 442668 ENSG00000178503 OTTHUMG00000154990 NG_009426 PGOHUM00000232653 HGNC:43912 HGNC:43913 NECAP1P2 NECAP endocytosis associated 1 pseudogene 2 pseudogene pseudogene Approved 2p13.1 02p13.1 2012-05-02 2014-11-19 106479026 ENSG00000234632 OTTHUMG00000152815 NG_044304 PGOHUM00000240690 HGNC:43913 -HGNC:25528 NECAP2 NECAP endocytosis associated 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 FLJ10420 adaptin-ear-binding coat-associated protein 2 2005-08-15 2023-01-20 55707 ENSG00000157191 OTTHUMG00000002313 uc001ayo.4 AK021938 NM_018090 "CCDS173|CCDS44067|CCDS44066" Q9NVZ3 "14555962|15494011" MGI:1913397 RGD:735063 611624 HGNC:25528 "ENST00000337132.10|NM_018090.5" +HGNC:25528 NECAP2 NECAP endocytosis associated 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 FLJ10420 adaptin-ear-binding coat-associated protein 2 2005-08-15 2023-01-20 55707 ENSG00000157191 OTTHUMG00000002313 uc001ayo.4 AK021938 NM_018090 "CCDS44067|CCDS44066|CCDS173" Q9NVZ3 "14555962|15494011" MGI:1913397 RGD:735063 611624 HGNC:25528 "ENST00000337132.10|NM_018090.5" HGNC:9706 NECTIN1 nectin cell adhesion molecule 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "PRR|PRR1|PVRR1|SK-12|HIgR|CLPED1|CD111|OFC7|Nectin-1" nectin "HVEC|ED4|PVRL1" poliovirus receptor-related 1 (herpesvirus entry mediator C) "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 1999-11-15 2016-02-12 2016-02-12 2023-03-15 5818 ENSG00000110400 OTTHUMG00000166177 uc001pwv.4 X76400 NM_002855 "CCDS8427|CCDS8426" Q15223 "7721102|9616127" MGI:1926483 RGD:620791 600644 118162 CD111 HGNC:9706 "ENST00000264025.8|NM_002855.5" HGNC:9706 HGNC:54270 NECTIN1-AS1 NECTIN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Antisense RNAs 1987 2019-04-25 2019-04-25 105369525 ENSG00000255247 NR_183634 HGNC:54270 HGNC:55513 NECTIN1-DT NECTIN1 divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Divergent transcripts 1990 2021-03-17 2021-03-17 102724301 ENSG00000254854 NR_120587 -HGNC:9707 NECTIN2 nectin cell adhesion molecule 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "PVRR2|PRR2|CD112|Nectin-2" "HVEB|PVRL2" poliovirus receptor-related 2 (herpesvirus entry mediator B) "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 1999-11-15 2016-02-12 2016-02-12 2023-01-20 5819 ENSG00000130202 OTTHUMG00000180839 uc002ozv.4 X80038 NM_002856 "CCDS12645|CCDS42576" Q92692 "7622062|10196354" MGI:97822 RGD:1309505 600798 CD112 HGNC:9707 "ENST00000252483.10|NM_001042724.2" +HGNC:9707 NECTIN2 nectin cell adhesion molecule 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "PVRR2|PRR2|CD112|Nectin-2" "HVEB|PVRL2" poliovirus receptor-related 2 (herpesvirus entry mediator B) "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 1999-11-15 2016-02-12 2016-02-12 2023-01-20 5819 ENSG00000130202 OTTHUMG00000180839 uc002ozv.4 X80038 NM_002856 "CCDS42576|CCDS12645" Q92692 "7622062|10196354" MGI:97822 RGD:1309505 600798 CD112 HGNC:9707 "ENST00000252483.10|NM_001042724.2" HGNC:56474 NECTIN2P1 NECTIN2 pseudogene 1 pseudogene pseudogene Approved 3q13.13 03q13.13 2022-10-20 2022-10-20 127379749 ENSG00000240787 NG_012156 PGOHUM00000299129 -HGNC:17664 NECTIN3 nectin cell adhesion molecule 3 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "nectin-3|PPR3|PVRR3|DKFZP566B0846|CDw113|CD113" PVRL3 poliovirus receptor-related 3 "CD molecules|V-set domain containing|C2-set domain containing|I-set domain containing|Nectins and nectin-like molecules" "471|590|592|593|1855" 2004-02-11 2016-02-12 2016-02-12 2023-01-20 25945 ENSG00000177707 OTTHUMG00000159239 uc003dxt.3 AF282874 NM_015480 "CCDS2957|CCDS58842|CCDS58843" Q9NQS3 11024295 MGI:1930171 RGD:1309516 607147 CDw113 HGNC:17664 "ENST00000485303.6|NM_015480.3" +HGNC:17664 NECTIN3 nectin cell adhesion molecule 3 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "nectin-3|PPR3|PVRR3|DKFZP566B0846|CDw113|CD113" PVRL3 poliovirus receptor-related 3 "CD molecules|V-set domain containing|C2-set domain containing|I-set domain containing|Nectins and nectin-like molecules" "471|590|592|593|1855" 2004-02-11 2016-02-12 2016-02-12 2023-01-20 25945 ENSG00000177707 OTTHUMG00000159239 uc003dxt.3 AF282874 NM_015480 "CCDS58843|CCDS2957|CCDS58842" Q9NQS3 11024295 MGI:1930171 RGD:1309516 607147 CDw113 HGNC:17664 "ENST00000485303.6|NM_015480.3" HGNC:40813 NECTIN3-AS1 NECTIN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.13 03q13.13 PVRL3-AS1 "PVRL3 antisense RNA 1 (non-protein coding)|PVRL3 antisense RNA 1" Antisense RNAs 1987 2011-07-28 2017-05-03 2017-05-03 2017-05-03 100506555 ENSG00000242242 OTTHUMG00000159244 uc062mid.1 NR_045114 HGNC:40813 HGNC:19688 NECTIN4 nectin cell adhesion molecule 4 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "nectin-4|PRR4|LNIR" PVRL4 poliovirus receptor-related 4 "V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "590|592|1855" 2004-02-11 2016-02-12 2016-02-12 2023-01-20 81607 ENSG00000143217 OTTHUMG00000031475 uc001fxo.3 AF426163 NM_030916 CCDS1216 Q96NY8 11544254 MGI:1918990 RGD:1559826 609607 251683 objectId:3112 HGNC:19688 "ENST00000368012.4|NM_030916.3" HGNC:19688 HGNC:40893 NECTIN4-AS1 NECTIN4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 AL591806.1 Antisense RNAs 1987 2020-03-19 2022-10-17 105371471 ENSG00000228917 OTTHUMG00000031478 NR_183640 -HGNC:7723 NEDD1 NEDD1 gamma-tubulin ring complex targeting factor protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "GCP-WD|TUBGCP7" tubulin gamma complex associated protein 7 neural precursor cell expressed, developmentally down-regulated 1 WD repeat domain containing 362 1994-01-21 2019-04-04 2023-01-20 121441 ENSG00000139350 OTTHUMG00000170604 uc001teu.5 NM_001135175 "CCDS44955|CCDS44956|CCDS9063" Q8NHV4 MGI:97293 RGD:1307750 600372 HGNC:7723 "ENST00000266742.9|NM_152905.4" -HGNC:7727 NEDD4 NEDD4 E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "KIAA0093|MGC176705|NEDD4-1|RPF1" receptor-potentiating factor 1 "neural precursor cell expressed, developmentally down-regulated 4|neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase" HECT domain containing 1959 1994-01-21 2019-04-04 2023-01-20 4734 ENSG00000069869 OTTHUMG00000132015 uc002adl.5 D42055 NM_198400 "CCDS61644|CCDS45265|CCDS61643|CCDS10156" P46934 "9073511|8649367" MGI:97297 RGD:3157 602278 HGNC:7727 "ENST00000435532.8|NM_006154.4" -HGNC:7728 NEDD4L NEDD4 like E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 18q21.31 18q21.31 "KIAA0439|RSP5|NEDD4-2" "neural precursor cell expressed, developmentally down-regulated 4-like|neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase" "C2 domain containing|HECT domain containing" "823|1959" 2000-03-14 2019-04-04 2023-01-20 23327 ENSG00000049759 OTTHUMG00000179875 uc002lgy.4 AF210730 NM_001144964 "CCDS45873|CCDS58632|CCDS45872|CCDS45875|CCDS45876|CCDS59323|CCDS45874" Q96PU5 "10594025|11244092|18322022" MGI:1933754 RGD:735047 606384 470768 HGNC:7728 "ENST00000400345.8|NM_001144967.3" HGNC:7728 +HGNC:7723 NEDD1 NEDD1 gamma-tubulin ring complex targeting factor protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "GCP-WD|TUBGCP7" tubulin gamma complex associated protein 7 neural precursor cell expressed, developmentally down-regulated 1 WD repeat domain containing 362 1994-01-21 2019-04-04 2023-01-20 121441 ENSG00000139350 OTTHUMG00000170604 uc001teu.5 NM_001135175 "CCDS44956|CCDS9063|CCDS44955" Q8NHV4 MGI:97293 RGD:1307750 600372 HGNC:7723 "ENST00000266742.9|NM_152905.4" +HGNC:7727 NEDD4 NEDD4 E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "KIAA0093|MGC176705|NEDD4-1|RPF1" receptor-potentiating factor 1 "neural precursor cell expressed, developmentally down-regulated 4|neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase" HECT domain containing 1959 1994-01-21 2019-04-04 2023-01-20 4734 ENSG00000069869 OTTHUMG00000132015 uc002adl.5 D42055 NM_198400 "CCDS61644|CCDS61643|CCDS10156|CCDS45265" P46934 "9073511|8649367" MGI:97297 RGD:3157 602278 HGNC:7727 "ENST00000435532.8|NM_006154.4" +HGNC:7728 NEDD4L NEDD4 like E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 18q21.31 18q21.31 "KIAA0439|RSP5|NEDD4-2" "neural precursor cell expressed, developmentally down-regulated 4-like|neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase" "C2 domain containing|HECT domain containing" "823|1959" 2000-03-14 2019-04-04 2023-01-20 23327 ENSG00000049759 OTTHUMG00000179875 uc002lgy.4 AF210730 NM_001144964 "CCDS45876|CCDS58632|CCDS45872|CCDS45875|CCDS59323|CCDS45873|CCDS45874" Q96PU5 "10594025|11244092|18322022" MGI:1933754 RGD:735047 606384 470768 HGNC:7728 "ENST00000400345.8|NM_001144967.3" HGNC:7728 HGNC:7732 NEDD8 NEDD8 ubiquitin like modifier protein-coding gene gene with protein product Approved 14q12 14q12 Nedd-8 neural precursor cell expressed, developmentally down-regulated 8 1994-01-21 2019-04-04 2023-01-20 4738 ENSG00000129559 OTTHUMG00000029325 uc001wnn.3 D23662 NM_006156 CCDS9621 Q15843 9353319 MGI:97301 RGD:3158 603171 HGNC:7732 "ENST00000250495.10|NM_006156.3" HGNC:39551 NEDD8-MDP1 NEDD8-MDP1 readthrough other readthrough Approved 14q12 14q12 2011-02-21 2014-11-19 100528064 ENSG00000255526 OTTHUMG00000167107 uc059ace.1 NM_001199823.1 HGNC:39551 HGNC:54555 NEDD8P1 NEDD8 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 2019-10-14 2019-10-14 100128775 ENSG00000226970 NG_028020 -HGNC:7733 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "HEF1|CAS-L|CASS2" "Cas scaffolding protein family member 2|Cas-like" Cas scaffold proteins 469 1994-01-21 2023-01-20 4739 ENSG00000111859 OTTHUMG00000014255 uc063lwa.1 L43821 NM_006403 "CCDS4520|CCDS75400|CCDS34340|CCDS47373" Q14511 MGI:97302 RGD:1306276 602265 HGNC:7733 "ENST00000379446.10|NM_006403.4" +HGNC:7733 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "HEF1|CAS-L|CASS2" "Cas scaffolding protein family member 2|Cas-like" Cas scaffold proteins 469 1994-01-21 2023-01-20 4739 ENSG00000111859 OTTHUMG00000014255 uc063lwa.1 L43821 NM_006403 "CCDS75400|CCDS47373|CCDS34340|CCDS4520" Q14511 MGI:97302 RGD:1306276 602265 HGNC:7733 "ENST00000379446.10|NM_006403.4" HGNC:7737 NEFH neurofilament heavy chain protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "NF-H|NFH" "neurofilament, heavy polypeptide 200kDa|neurofilament heavy polypeptide|neurofilament heavy" Intermediate filaments Type IV 611 1988-08-31 2021-03-23 2023-01-20 4744 ENSG00000100285 OTTHUMG00000151155 uc003afo.4 NM_021076 CCDS13858 P12036 MGI:97309 RGD:3159 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 162230 123752 HGNC:7737 "ENST00000310624.7|NM_021076.4" HGNC:7737 HGNC:7738 NEFHP1 neurofilament heavy pseudogene 1 pseudogene pseudogene Approved 1p13.1 01p13.1 neurofilament, heavy polypeptide 200kDa (NEFH) pseudogene NEFHL "neurofilament, heavy polypeptide-like|neurofilament, heavy polypeptide-like pseudogene|neurofilament, heavy polypeptide pseudogene 1" 1989-05-10 2010-10-15 2016-12-07 2020-04-20 339396 ENSG00000223489 OTTHUMG00000022752 NG_022735 PGOHUM00000244157 HGNC:7738 HGNC:7739 NEFL neurofilament light chain protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "NFL|CMT1F|CMT2E|NF68|PPP1R110" protein phosphatase 1, regulatory subunit 110 "neurofilament, light polypeptide 68kDa|neurofilament, light polypeptide|neurofilament light" "Intermediate filaments Type IV|Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "611|694|1691" 2001-06-22 2021-03-23 2023-01-20 4747 ENSG00000277586 OTTHUMG00000134284 uc033bfe.2 NM_006158 CCDS75712 P07196 "17620486|3145240" MGI:97313 RGD:621458 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_259|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_259.xml" 162280 123754 HGNC:7739 "ENST00000610854.2|NM_006158.5" HGNC:7739 HGNC:37662 NEFLP1 neurofilament light pseudogene 1 pseudogene pseudogene Approved Yq11.223 Yq11.223 neurofilament, light polypeptide pseudogene 1 2009-12-16 2016-12-07 2016-12-07 359795 ENSG00000232634 OTTHUMG00000036542 NG_002813 12815422 HGNC:37662 -HGNC:7734 NEFM neurofilament medium chain protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "NFM|NF-M" NEF3 "neurofilament, medium polypeptide 150kDa|neurofilament, medium polypeptide|neurofilament medium" Intermediate filaments Type IV 611 1989-10-18 2006-11-20 2021-03-23 2023-01-20 4741 ENSG00000104722 OTTHUMG00000131990 uc003xed.5 BC002421 NM_005382 "CCDS6046|CCDS47831" P07197 1348579 MGI:97314 RGD:3160 162250 HGNC:7734 "ENST00000221166.10|NM_005382.2" +HGNC:7734 NEFM neurofilament medium chain protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "NFM|NF-M" NEF3 "neurofilament, medium polypeptide 150kDa|neurofilament, medium polypeptide|neurofilament medium" Intermediate filaments Type IV 611 1989-10-18 2006-11-20 2021-03-23 2023-01-20 4741 ENSG00000104722 OTTHUMG00000131990 uc003xed.5 BC002421 NM_005382 "CCDS47831|CCDS6046" P07197 1348579 MGI:97314 RGD:3160 162250 HGNC:7734 "ENST00000221166.10|NM_005382.2" HGNC:45030 NEFMP1 neurofilament medium pseudogene 1 pseudogene pseudogene Approved 10q21.1 10q21.1 neurofilament, medium polypeptide pseudogene 1 2013-01-08 2016-12-07 2016-12-07 100420737 ENSG00000224697 OTTHUMG00000018258 NG_025505 PGOHUM00000238803 HGNC:45030 HGNC:17302 NEGR1 neuronal growth regulator 1 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KILON|MGC46680|Ntra|IGLON4" "a kindred of IgLON|neurotractin|IgLON family member 4" "I-set domain containing|IgLON cell adhesion molecules" "593|1052" 2003-09-09 2023-01-20 257194 ENSG00000172260 OTTHUMG00000009698 uc001dfw.4 AK092307 NM_173808 CCDS661 Q7Z3B1 10075727 MGI:2444846 RGD:708416 613173 HGNC:17302 "ENST00000357731.10|NM_173808.3" HGNC:41432 NEGR1-IT1 NEGR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 NEGR1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-11-22 2015-02-25 2015-02-25 100852409 ENSG00000228853 OTTHUMG00000009732 uc031pmw.1 BC042082 NR_046218 NEGR1-IT1 HGNC:41432 HGNC:18448 NEIL1 nei like DNA glycosylase 1 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "FLJ22402|hFPG1|NEI1|FPG1" DNA endonuclease eight-like glycosylase 1 nei endonuclease VIII-like 1 (E. coli) DNA glycosylases 1024 2002-04-26 2016-01-18 2023-01-20 79661 ENSG00000140398 OTTHUMG00000142821 uc002bad.5 AK026055 NM_024608 CCDS10278 Q96FI4 11904416 MGI:1920024 RGD:1306077 608844 HGNC:18448 "ENST00000355059.9|NM_024608.4" -HGNC:18956 NEIL2 nei like DNA glycosylase 2 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "NEH2|FLJ31644|MGC2832|MGC4505" "nei like 2 (E. coli)|nei endonuclease VIII-like 2 (E. coli)" DNA glycosylases 1024 2002-07-25 2016-01-18 2023-01-20 252969 ENSG00000154328 OTTHUMG00000090753 uc003wue.3 AK056206 NM_145043 "CCDS47802|CCDS47803|CCDS5984" Q969S2 "12097317|17686777" MGI:2686058 RGD:1312033 608933 HGNC:18956 "ENST00000284503.7|NM_145043.4" +HGNC:18956 NEIL2 nei like DNA glycosylase 2 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "NEH2|FLJ31644|MGC2832|MGC4505" "nei like 2 (E. coli)|nei endonuclease VIII-like 2 (E. coli)" DNA glycosylases 1024 2002-07-25 2016-01-18 2023-01-20 252969 ENSG00000154328 OTTHUMG00000090753 uc003wue.3 AK056206 NM_145043 "CCDS47802|CCDS5984|CCDS47803" Q969S2 "12097317|17686777" MGI:2686058 RGD:1312033 608933 HGNC:18956 "ENST00000284503.7|NM_145043.4" HGNC:24573 NEIL3 nei like DNA glycosylase 3 protein-coding gene gene with protein product Approved 4q34.3 04q34.3 "FLJ10858|hFPG2|FPG2|hNEI3|ZGRF3" zinc finger, GRF-type containing 3 nei endonuclease VIII-like 3 (E. coli) "Zinc fingers RANBP2-type |Zinc fingers GRF-type|DNA glycosylases" "89|135|1024" 2005-01-26 2016-01-18 2023-01-20 55247 ENSG00000109674 OTTHUMG00000160722 uc003iut.3 AB079071 NM_018248 CCDS3828 Q8TAT5 "12713815|12509226|19170771|23755964" MGI:2384588 RGD:1310562 608934 "3.2.2.-|4.2.99.18" HGNC:24573 "ENST00000264596.4|NM_018248.3" -HGNC:7744 NEK1 NIMA related kinase 1 protein-coding gene gene with protein product Approved 4q33 04q33 "NY-REN-55|KIAA1901" NIMA (never in mitosis gene a)-related kinase 1 1998-08-26 2016-01-13 2023-01-20 4750 ENSG00000137601 OTTHUMG00000160963 uc003isb.3 AB067488 NM_001199397 "CCDS56348|CCDS56351|CCDS56350|CCDS56349|CCDS93668|CCDS47162" Q96PY6 "1382974|8274451" MGI:97303 RGD:1309375 604588 258621 objectId:2114 HGNC:7744 "ENST00000507142.6|NM_001199397.3" HGNC:7744 -HGNC:7745 NEK2 NIMA related kinase 2 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "NLK1|NEK2A|RP67|PPP1R111" "HsPK 21|protein phosphatase 1, regulatory subunit 111" NIMA (never in mitosis gene a)-related kinase 2 Protein phosphatase 1 regulatory subunits 694 1998-08-26 2016-01-13 2023-01-20 4751 ENSG00000117650 OTTHUMG00000037121 uc001hir.3 U11050 NM_002497 "CCDS73024|CCDS1500|CCDS55682" P51955 "8274451|24043777" MGI:109359 RGD:619792 604043 368150 objectId:2117 HGNC:7745 "ENST00000366999.9|NM_002497.4" HGNC:7745 +HGNC:7744 NEK1 NIMA related kinase 1 protein-coding gene gene with protein product Approved 4q33 04q33 "NY-REN-55|KIAA1901" NIMA (never in mitosis gene a)-related kinase 1 1998-08-26 2016-01-13 2023-01-20 4750 ENSG00000137601 OTTHUMG00000160963 uc003isb.3 AB067488 NM_001199397 "CCDS56351|CCDS56349|CCDS56348|CCDS93668|CCDS56350|CCDS47162" Q96PY6 "1382974|8274451" MGI:97303 RGD:1309375 604588 258621 objectId:2114 HGNC:7744 "ENST00000507142.6|NM_001199397.3" HGNC:7744 +HGNC:7745 NEK2 NIMA related kinase 2 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "NLK1|NEK2A|RP67|PPP1R111" "HsPK 21|protein phosphatase 1, regulatory subunit 111" NIMA (never in mitosis gene a)-related kinase 2 Protein phosphatase 1 regulatory subunits 694 1998-08-26 2016-01-13 2023-01-20 4751 ENSG00000117650 OTTHUMG00000037121 uc001hir.3 U11050 NM_002497 "CCDS1500|CCDS55682|CCDS73024" P51955 "8274451|24043777" MGI:109359 RGD:619792 604043 368150 objectId:2117 HGNC:7745 "ENST00000366999.9|NM_002497.4" HGNC:7745 HGNC:28085 NEK2-DT NEK2 divergent transcript non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Divergent transcripts 1990 2021-07-22 2021-07-22 91548 ENSG00000231057 NR_148994 HGNC:19272 NEK2P1 NEK2 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 NEK2P NEK2 pseudogene 2003-01-13 2010-02-26 2010-02-26 2020-04-07 326302 ENSG00000277367 OTTHUMG00000188379 NG_002554 PGOHUM00000248029 C19.P01 HGNC:19272 HGNC:37816 NEK2P2 NEK2 pseudogene 2 pseudogene pseudogene Approved 22q11.1 22q11.1 2010-02-26 2014-11-19 100379667 ENSG00000231565 OTTHUMG00000140351 NG_016726 PGOHUM00000246368 HGNC:37816 @@ -22496,18 +22498,18 @@ HGNC:39649 NEK4P1 NIMA-related kinase 4 pseudogene 1 pseudogene pseudogene Appro HGNC:39650 NEK4P2 NIMA-related kinase 4 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 NIMA (never in mitosis gene a)-related kinase 4 pseudogene 2 2011-03-18 2012-11-15 2016-08-15 100421734 ENSG00000264359 OTTHUMG00000178961 NG_026146 PGOHUM00000293967 HGNC:39650 HGNC:39651 NEK4P3 NIMA-related kinase 4 pseudogene 3 pseudogene pseudogene Approved 10q21.3 10q21.3 NIMA (never in mitosis gene a)-related kinase 4 pseudogene 3 2011-03-18 2012-11-15 2016-08-15 100421728 ENSG00000270754 OTTHUMG00000184645 NG_025511 PGOHUM00000290183 HGNC:39651 HGNC:7748 NEK5 NIMA related kinase 5 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 NIMA (never in mitosis gene a)-related kinase 5 1998-09-01 2016-01-13 2023-01-20 341676 ENSG00000197168 OTTHUMG00000016957 uc001vge.4 BC063885 NM_199289 "CCDS31979|CCDS91811" Q6P3R8 9552363 MGI:2142824 RGD:1593817 616731 objectId:2120 HGNC:7748 "ENST00000684899.1|NM_001365552.1" -HGNC:7749 NEK6 NIMA related kinase 6 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 SID6-1512 putative serine-threonine protein kinase NIMA (never in mitosis gene a)-related kinase 6 1999-07-19 2016-01-13 2023-01-20 10783 ENSG00000119408 OTTHUMG00000020650 uc064vpi.1 AF087909 NM_014397 "CCDS6854|CCDS48015|CCDS55339|CCDS55338" Q9HC98 10702691 MGI:1891638 RGD:727779 604884 objectId:2121 HGNC:7749 "ENST00000320246.10|NM_014397.6" +HGNC:7749 NEK6 NIMA related kinase 6 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 SID6-1512 putative serine-threonine protein kinase NIMA (never in mitosis gene a)-related kinase 6 1999-07-19 2016-01-13 2023-01-20 10783 ENSG00000119408 OTTHUMG00000020650 uc064vpi.1 AF087909 NM_014397 "CCDS55338|CCDS6854|CCDS48015|CCDS55339" Q9HC98 10702691 MGI:1891638 RGD:727779 604884 objectId:2121 HGNC:7749 "ENST00000320246.10|NM_014397.6" HGNC:13386 NEK7 NIMA related kinase 7 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 NIMA (never in mitosis gene a)-related kinase 7 2001-12-19 2016-01-13 2023-01-20 140609 ENSG00000151414 OTTHUMG00000035658 uc001gun.5 AB062450 NM_133494 CCDS1394 Q8TDX7 11701951 MGI:1890645 RGD:1311160 606848 PGOHUM00000296006 objectId:2122 HGNC:13386 "ENST00000367385.9|NM_133494.3" HGNC:13387 NEK8 NIMA related kinase 8 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 NPHP9 NIMA (never in mitosis gene a)- related kinase 8 2004-10-20 2016-01-13 2023-01-20 284086 ENSG00000160602 OTTHUMG00000179454 uc002hcp.4 AY267371 NM_178170 CCDS32597 Q86SG6 18199800 MGI:1890646 RGD:1306897 609799 209484 objectId:2123 HGNC:13387 "ENST00000268766.11|NM_178170.3" HGNC:13387 -HGNC:18591 NEK9 NIMA related kinase 9 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "Nek8|NERCC|DKFZp434D0935|MGC16714|NERCC1" NIMA (never in mitosis gene a)- related kinase 9 2002-05-08 2016-01-13 2023-01-20 91754 ENSG00000119638 OTTHUMG00000171768 uc001xrl.4 AY048580 NM_033116 "CCDS91908|CCDS9839|CCDS91907" Q8TD19 11864968 MGI:2387995 RGD:1307187 609798 461239 objectId:2124 HGNC:18591 "ENST00000238616.10|NM_033116.6" HGNC:18591 -HGNC:18592 NEK10 NIMA related kinase 10 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 FLJ32685 NIMA (never in mitosis gene a)- related kinase 10 Armadillo like helical domain containing 1492 2002-05-08 2016-01-13 2023-03-15 152110 ENSG00000163491 OTTHUMG00000130571 uc062hqb.1 "AK123061|AK057247" NM_152534 "CCDS46781|CCDS93229|CCDS77713" Q6ZWH5 15289607 MGI:2685128 RGD:1564342 618726 objectId:2115 HGNC:18592 "ENST00000691995.1|NM_001394966.1" HGNC:18592 -HGNC:18593 NEK11 NIMA related kinase 11 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 FLJ23495 NIMA (never in mitosis gene a)- related kinase 11 2002-05-08 2016-01-13 2023-01-20 79858 ENSG00000114670 OTTHUMG00000159654 uc003eny.4 AK027148 NM_024800 "CCDS82836|CCDS3069|CCDS54639|CCDS46915|CCDS82837" Q8NG66 MGI:2442276 RGD:1308801 609779 objectId:2116 HGNC:18593 "ENST00000383366.9|NM_024800.5" +HGNC:18591 NEK9 NIMA related kinase 9 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "Nek8|NERCC|DKFZp434D0935|MGC16714|NERCC1" NIMA (never in mitosis gene a)- related kinase 9 2002-05-08 2016-01-13 2023-01-20 91754 ENSG00000119638 OTTHUMG00000171768 uc001xrl.4 AY048580 NM_033116 "CCDS91908|CCDS91907|CCDS9839" Q8TD19 11864968 MGI:2387995 RGD:1307187 609798 461239 objectId:2124 HGNC:18591 "ENST00000238616.10|NM_033116.6" HGNC:18591 +HGNC:18592 NEK10 NIMA related kinase 10 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 FLJ32685 NIMA (never in mitosis gene a)- related kinase 10 Armadillo like helical domain containing 1492 2002-05-08 2016-01-13 2023-03-15 152110 ENSG00000163491 OTTHUMG00000130571 uc062hqb.1 "AK123061|AK057247" NM_152534 "CCDS77713|CCDS46781|CCDS93229" Q6ZWH5 15289607 MGI:2685128 RGD:1564342 618726 objectId:2115 HGNC:18592 "ENST00000691995.1|NM_001394966.1" HGNC:18592 +HGNC:18593 NEK11 NIMA related kinase 11 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 FLJ23495 NIMA (never in mitosis gene a)- related kinase 11 2002-05-08 2016-01-13 2023-01-20 79858 ENSG00000114670 OTTHUMG00000159654 uc003eny.4 AK027148 NM_024800 "CCDS82837|CCDS46915|CCDS54639|CCDS82836|CCDS3069" Q8NG66 MGI:2442276 RGD:1308801 609779 objectId:2116 HGNC:18593 "ENST00000383366.9|NM_024800.5" HGNC:12768 NELFA negative elongation factor complex member A protein-coding gene gene with protein product Approved 4p16.3 04p16.3 NELF-A WHSC2 Wolf-Hirschhorn syndrome candidate 2 "MicroRNA protein coding host genes|Negative elongation factor complex members" "1691|1944" 1998-07-24 2013-01-31 2013-01-31 2023-01-20 7469 ENSG00000185049 OTTHUMG00000089967 uc003gem.4 AF101434 NM_005663 CCDS3358 Q9H3P2 10409432 MGI:1346098 RGD:1305556 606026 120525 HGNC:12768 "ENST00000382882.9|NM_005663.5" HGNC:24324 NELFB negative elongation factor complex member B protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "KIAA1182|NELF-B" COBRA1 cofactor of BRCA1 Negative elongation factor complex members 1944 2008-02-21 2013-01-31 2013-01-31 2023-01-20 25920 ENSG00000188986 OTTHUMG00000131778 uc284qzh.1 AF464935 NM_015456 CCDS7040 Q8WX92 "11230166|10574461|17910036|17659869" MGI:1931035 RGD:1307832 611180 HGNC:24324 "ENST00000343053.6|NM_015456.5" HGNC:15934 NELFCD negative elongation factor complex member C/D protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "HSPC130|TH1|NELF-C|NELF-D" trihydrophobin 1 TH1L "TH1-like (Drosophila homolog)|TH1-like (Drosophila)" "Armadillo like helical domain containing|Negative elongation factor complex members" "1492|1944" 2001-07-31 2013-01-31 2013-01-31 2023-01-20 51497 ENSG00000101158 OTTHUMG00000032861 uc002yag.4 AF161479 NM_198976 CCDS13473 Q8IXH7 "11030415|11042152" MGI:1926424 RGD:1590753 605297 HGNC:15934 "ENST00000652272.2|NM_198976.4" HGNC:13974 NELFE negative elongation factor complex member E protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "RD|D6S45|NELF-E|RDP" RDBP "RD RNA-binding protein|RD RNA binding protein" "RNA binding motif containing|MicroRNA protein coding host genes|Negative elongation factor complex members" "725|1691|1944" 2002-11-18 2013-01-31 2013-01-31 2023-01-20 7936 ENSG00000204356 OTTHUMG00000031046 uc003nyk.4 M33230 NM_002904 CCDS4730 P18615 MGI:102744 RGD:1303325 154040 HGNC:13974 "ENST00000375429.8|NM_002904.6" -HGNC:7750 NELL1 neural EGFL like 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "IDH3GL|FLJ45906" "nel (chicken)-like 1|NEL-like 1 (chicken)" 1996-07-17 2015-06-19 2023-01-20 4745 ENSG00000165973 OTTHUMG00000166042 uc001mqe.5 AK127805 NM_006157 "CCDS7855|CCDS44555|CCDS73267|CCDS73268" Q92832 "8975702|24563467" MGI:2443902 RGD:620998 602319 HGNC:7750 "ENST00000357134.10|NM_006157.5" -HGNC:7751 NELL2 neural EGFL like 2 protein-coding gene gene with protein product Approved 12q12 12q12 NRP2 "nel (chicken)-like 2|NEL-like 2 (chicken)" 1996-07-17 2015-06-19 2023-01-20 4753 ENSG00000184613 OTTHUMG00000169464 uc001rog.3 D83018 NM_006159 "CCDS44863|CCDS8746|CCDS44864|CCDS53781" Q99435 "8975702|25537860" MGI:1858510 RGD:620999 602320 HGNC:7751 "ENST00000429094.7|NM_001145108.2" +HGNC:7750 NELL1 neural EGFL like 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "IDH3GL|FLJ45906" "nel (chicken)-like 1|NEL-like 1 (chicken)" 1996-07-17 2015-06-19 2023-01-20 4745 ENSG00000165973 OTTHUMG00000166042 uc001mqe.5 AK127805 NM_006157 "CCDS73268|CCDS44555|CCDS73267|CCDS7855" Q92832 "8975702|24563467" MGI:2443902 RGD:620998 602319 HGNC:7750 "ENST00000357134.10|NM_006157.5" +HGNC:7751 NELL2 neural EGFL like 2 protein-coding gene gene with protein product Approved 12q12 12q12 NRP2 "nel (chicken)-like 2|NEL-like 2 (chicken)" 1996-07-17 2015-06-19 2023-01-20 4753 ENSG00000184613 OTTHUMG00000169464 uc001rog.3 D83018 NM_006159 "CCDS44863|CCDS44864|CCDS8746|CCDS53781" Q99435 "8975702|25537860" MGI:1858510 RGD:620999 602320 HGNC:7751 "ENST00000429094.7|NM_001145108.2" HGNC:10663 NEMF nuclear export mediator factor protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "NY-CO-1|FLJ10051|RQC2" "caliban homolog (Drosophila)|Ribosome quality control complex subunit NEMF|New-York Colon 1" SDCCAG1 serologically defined colon cancer antigen 1 1999-02-09 2011-01-31 2011-01-31 2023-01-20 9147 ENSG00000165525 OTTHUMG00000170857 uc001wxc.4 AF039687 NM_004713 CCDS9694 O60524 "9610721|10575219|16103875" MGI:1918305 RGD:2315525 608378 HGNC:10663 "ENST00000298310.10|NM_004713.6" HGNC:10663 HGNC:29001 NEMP1 nuclear envelope integral membrane protein 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 KIAA0286 "TMEM194|TMEM194A" "transmembrane protein 194|transmembrane protein 194A" 2007-11-15 2015-05-27 2015-05-27 2023-01-20 23306 ENSG00000166881 OTTHUMG00000171021 AB006624 NM_015257 "CCDS31841|CCDS44927" O14524 25946333 MGI:2446113 RGD:1587179 616496 HGNC:29001 "ENST00000300128.9|NM_001130963.2" HGNC:33700 NEMP2 nuclear envelope integral membrane protein 2 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 TMEM194B transmembrane protein 194B 2007-11-15 2015-05-27 2015-05-27 2023-01-20 100131211 ENSG00000189362 OTTHUMG00000154454 NM_001142645 CCDS46476 A6NFY4 25946333 MGI:2444113 RGD:1560421 616497 HGNC:33700 "ENST00000409150.8|NM_001142645.2" @@ -22521,20 +22523,20 @@ HGNC:33184 NEPNP nephrocan, pseudogene pseudogene pseudogene Approved 6q22.1 06q HGNC:24496 NEPRO nucleolus and neural progenitor protein protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "DKFZP434F2021|NET17" C3orf17 chromosome 3 open reading frame 17 2005-01-10 2016-05-17 2016-05-17 2023-03-15 25871 ENSG00000163608 OTTHUMG00000159286 uc003dzr.4 AL117573 NM_015412 "CCDS33824|CCDS82820" Q6NW34 "19906856|31250547" MGI:2384836 RGD:1311458 617089 HGNC:24496 "ENST00000314400.10|NM_015412.4" HGNC:24496 HGNC:41049 NEPRO-AS1 NEPRO antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 Antisense RNAs 1987 2021-06-25 2021-06-25 107986114 ENSG00000240057 OTTHUMG00000159327 HGNC:7756 NES nestin protein-coding gene gene with protein product Approved 1q23.1 01q23.1 FLJ21841 Intermediate filaments Type IV 611 1999-01-22 2023-01-20 10763 ENSG00000132688 OTTHUMG00000034299 uc001fpq.4 X65964 NM_006617 CCDS1151 P48681 "1478958|9104587" MGI:101784 RGD:3162 600915 HGNC:7756 "ENST00000368223.4|NM_006617.2" -HGNC:14592 NET1 neuroepithelial cell transforming 1 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "ARHGEF8|NET1A" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-02-08 2008-09-12 2023-01-20 10276 ENSG00000173848 OTTHUMG00000017596 uc001iib.5 AJ010046 NM_005863 "CCDS7067|CCDS41483" Q7Z628 8649828 MGI:1927138 RGD:1305034 606450 HGNC:14592 "ENST00000355029.9|NM_001047160.3" -HGNC:13823 NETO1 neuropilin and tolloid like 1 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "BTCL1|BCTL1" neuropilin (NRP) and tolloid (TLL)-like 1 MicroRNA protein coding host genes 1691 2001-04-05 2015-12-01 2023-03-15 81832 ENSG00000166342 OTTHUMG00000132834 uc002lkw.3 AF448838 NM_138999 "CCDS12000|CCDS42444" Q8TDF5 "11943477|12810072" MGI:2180216 RGD:1566269 607973 HGNC:13823 "ENST00000327305.11|NM_138966.5" +HGNC:14592 NET1 neuroepithelial cell transforming 1 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "ARHGEF8|NET1A" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-02-08 2008-09-12 2023-01-20 10276 ENSG00000173848 OTTHUMG00000017596 uc001iib.5 AJ010046 NM_005863 "CCDS41483|CCDS7067" Q7Z628 8649828 MGI:1927138 RGD:1305034 606450 HGNC:14592 "ENST00000355029.9|NM_001047160.3" +HGNC:13823 NETO1 neuropilin and tolloid like 1 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "BTCL1|BCTL1" neuropilin (NRP) and tolloid (TLL)-like 1 MicroRNA protein coding host genes 1691 2001-04-05 2015-12-01 2023-03-15 81832 ENSG00000166342 OTTHUMG00000132834 uc002lkw.3 AF448838 NM_138999 "CCDS42444|CCDS12000" Q8TDF5 "11943477|12810072" MGI:2180216 RGD:1566269 607973 HGNC:13823 "ENST00000327305.11|NM_138966.5" HGNC:55333 NETO1-DT NETO1 divergent transcript non-coding RNA RNA, long non-coding Approved 18q22.3 18q22.3 Divergent transcripts 1990 2020-10-21 2020-10-21 100505797 ENSG00000263958 NR_134647 -HGNC:14644 NETO2 neuropilin and tolloid like 2 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "FLJ10430|NEOT2" neuropilin (NRP) and tolloid (TLL)-like 2 2001-04-05 2015-12-01 2023-01-20 81831 ENSG00000171208 OTTHUMG00000133101 uc002eer.3 AK001292 NM_018092 "CCDS10727|CCDS58460" Q8NC67 11943477 MGI:1921763 RGD:1305310 607974 HGNC:14644 "ENST00000562435.6|NM_018092.5" +HGNC:14644 NETO2 neuropilin and tolloid like 2 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "FLJ10430|NEOT2" neuropilin (NRP) and tolloid (TLL)-like 2 2001-04-05 2015-12-01 2023-01-20 81831 ENSG00000171208 OTTHUMG00000133101 uc002eer.3 AK001292 NM_018092 "CCDS58460|CCDS10727" Q8NC67 11943477 MGI:1921763 RGD:1305310 607974 HGNC:14644 "ENST00000562435.6|NM_018092.5" HGNC:7758 NEU1 neuraminidase 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 sialidase-1 NEU "sialidase 1 (lysosomal sialidase)|neuraminidase 1 (lysosomal sialidase)" Neuraminidases 1649 2001-06-22 2016-07-01 2023-01-20 4758 ENSG00000204386 OTTHUMG00000031284 uc011ise.3 AF040958 NM_000434 CCDS4723 Q99519 9054950 MGI:97305 RGD:3163 608272 123759 objectId:3214 3.2.1.18 HGNC:7758 "ENST00000375631.5|NM_000434.4" HGNC:7758 HGNC:7759 NEU2 neuraminidase 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 SIAL2 N-acetyl-alpha-neuraminidase 2 "sialidase 2 (cytosolic sialidase)|neuraminidase 2 (cytosolic sialidase)" Neuraminidases 1649 1998-02-26 2016-07-01 2023-01-20 4759 ENSG00000115488 OTTHUMG00000133274 uc010zmn.2 Y16535 NM_005383 CCDS2501 Q9Y3R4 "10191093|14613940" MGI:1344417 RGD:3164 605528 3.2.1.18 HGNC:7759 "ENST00000233840.3|NM_005383.2" -HGNC:7760 NEU3 neuraminidase 3 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "sialidase 3 (membrane sialidase)|neuraminidase 3, membrane sialidase" Neuraminidases 1649 1999-08-12 2016-07-01 2023-01-20 10825 ENSG00000162139 OTTHUMG00000165518 uc001ovw.4 AB008185 NM_006656 "CCDS91538|CCDS44682|CCDS91536|CCDS91537|CCDS91539" Q9UQ49 10405317 MGI:1355305 RGD:619881 604617 3.2.1.18 HGNC:7760 "ENST00000294064.9|NM_006656.6" -HGNC:21328 NEU4 neuraminidase 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "sialidase 4|neuraminidase 4 (sialidase)" Neuraminidases 1649 2003-09-16 2016-07-01 2023-01-20 129807 ENSG00000204099 OTTHUMG00000133412 uc032oxr.2 BC012899 NM_080741 "CCDS54442|CCDS2553|CCDS54441" Q8WWR8 MGI:2661364 RGD:1308624 608527 3.2.1.18 HGNC:21328 "ENST00000407683.6|NM_001167600.3" +HGNC:7760 NEU3 neuraminidase 3 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "sialidase 3 (membrane sialidase)|neuraminidase 3, membrane sialidase" Neuraminidases 1649 1999-08-12 2016-07-01 2023-01-20 10825 ENSG00000162139 OTTHUMG00000165518 uc001ovw.4 AB008185 NM_006656 "CCDS91536|CCDS91538|CCDS44682|CCDS91537|CCDS91539" Q9UQ49 10405317 MGI:1355305 RGD:619881 604617 3.2.1.18 HGNC:7760 "ENST00000294064.9|NM_006656.6" +HGNC:21328 NEU4 neuraminidase 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "sialidase 4|neuraminidase 4 (sialidase)" Neuraminidases 1649 2003-09-16 2016-07-01 2023-01-20 129807 ENSG00000204099 OTTHUMG00000133412 uc032oxr.2 BC012899 NM_080741 "CCDS2553|CCDS54441|CCDS54442" Q8WWR8 MGI:2661364 RGD:1308624 608527 3.2.1.18 HGNC:21328 "ENST00000407683.6|NM_001167600.3" HGNC:7761 NEURL1 neuralized E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 "h-neu|RNF67|neu-1" NEURL "neuralized (Drosophila)-like|neuralized-like (Drosophila)|neuralized homolog (Drosophila)" Ring finger proteins 58 1999-02-09 2013-10-24 2013-10-24 2023-01-20 9148 ENSG00000107954 OTTHUMG00000018995 U87864 NM_004210 CCDS7551 O76050 "9519875|20847082" MGI:1334263 RGD:1307021 603804 HGNC:7761 "ENST00000369780.9|NM_004210.5" HGNC:51220 NEURL1-AS1 NEURL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.33 10q24.33 Antisense RNAs 1987 2014-08-08 2014-08-08 102724341 ENSG00000235470 OTTHUMG00000018993 AA399019 NR_120675 NEURL1-AS1 HGNC:51220 HGNC:35422 NEURL1B neuralized E3 ubiquitin protein ligase 1B protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "DKFZP761M1511|Neur2|RNF67B" neuralized homolog 1B (Drosophila) "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2009-01-15 2013-10-24 2023-01-20 54492 ENSG00000214357 OTTHUMG00000163281 uc003mbt.4 NM_001142651 "CCDS83042|CCDS78085|CCDS47342" A8MQ27 17003037 MGI:3643092 RGD:1564984 615893 HGNC:35422 "ENST00000369800.6|NM_001142651.3" HGNC:16156 NEURL2 neuralized E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ337O18.6|FLJ30259|Ozz|Ozz-E3" C20orf163 "chromosome 20 open reading frame 163|neuralized-like 2 (Drosophila)|neuralized homolog 2 (Drosophila)" 2001-07-17 2004-02-27 2013-10-24 2023-01-20 140825 ENSG00000124257 OTTHUMG00000032626 uc002xqg.3 AL008726 NM_001278535 CCDS13384 Q9BR09 "12076535|19723503" MGI:3043305 RGD:1306409 608597 HGNC:16156 "ENST00000372518.5|NM_080749.4" HGNC:25162 NEURL3 neuralized E3 ubiquitin protein ligase 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "Lincr|LOC93082|RNF132" neuralized homolog 3 (Drosophila) pseudogene Ring finger proteins 58 2009-01-12 2013-10-24 2023-03-15 93082 ENSG00000163121 OTTHUMG00000128645 uc010yup.3 NM_138397 "CCDS74541|CCDS74542" Q96EH8 15936721 MGI:2429944 RGD:1359633 617206 HGNC:25162 "ENST00000451794.6|NM_001285485.2" -HGNC:34410 NEURL4 neuralized E3 ubiquitin protein ligase 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KIAA1787 neuralized homolog 4 (Drosophila) 2009-01-15 2013-10-24 2023-01-20 84461 ENSG00000215041 OTTHUMG00000132319 uc002gga.2 NM_032442 "CCDS42252|CCDS42251" Q96JN8 "22261722|22441691" MGI:1921092 RGD:1308056 615865 HGNC:34410 "ENST00000399464.7|NM_032442.3" +HGNC:34410 NEURL4 neuralized E3 ubiquitin protein ligase 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KIAA1787 neuralized homolog 4 (Drosophila) 2009-01-15 2013-10-24 2023-01-20 84461 ENSG00000215041 OTTHUMG00000132319 uc002gga.2 NM_032442 "CCDS42251|CCDS42252" Q96JN8 "22261722|22441691" MGI:1921092 RGD:1308056 615865 HGNC:34410 "ENST00000399464.7|NM_032442.3" HGNC:7762 NEUROD1 neuronal differentiation 1 protein-coding gene gene with protein product Approved 2q31.3 02q31.3 "BETA2|BHF-1|NeuroD|bHLHa3|MODY6" "beta-cell E-box transactivator 2|neurogenic helix-loop-helix protein NEUROD" NEUROD neurogenic differentiation 1 Basic helix-loop-helix proteins 420 1996-03-12 2012-02-22 2023-01-20 4760 ENSG00000162992 OTTHUMG00000132583 uc002uof.5 U50823 NM_002500 CCDS2283 Q13562 "7754368|8786144" MGI:1339708 RGD:3165 LRG_1119|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1119.xml 601724 123762 HGNC:7762 "ENST00000295108.4|NM_002500.5" HGNC:7762 HGNC:7763 NEUROD2 neuronal differentiation 2 protein-coding gene gene with protein product Approved 17q12 17q12 "NDRF|bHLHa1" NeuroD-related factor neurogenic differentiation 2 Basic helix-loop-helix proteins 420 1997-04-10 2012-02-22 2023-01-20 4761 ENSG00000171532 OTTHUMG00000133211 uc002hry.4 U58681 NM_006160 CCDS11338 Q15784 9119405 MGI:107755 RGD:3166 601725 HGNC:7763 "ENST00000302584.5|NM_006160.4" HGNC:7763 HGNC:13802 NEUROD4 neuronal differentiation 4 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "Atoh3|ATH-3|MATH-3|bHLHa4" neurogenic differentiation 4 Basic helix-loop-helix proteins 420 2000-11-28 2012-02-22 2023-01-20 58158 ENSG00000123307 OTTHUMG00000169826 uc001sgp.5 AF203901 NM_021191 CCDS8886 Q9HD90 MGI:108055 RGD:1310434 611635 HGNC:13802 "ENST00000242994.4|NM_021191.3" @@ -22546,7 +22548,7 @@ HGNC:13806 NEUROG3 neurogenin 3 protein-coding gene gene with protein product Ap HGNC:29433 NEXMIF neurite extension and migration factor protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "XPN|MRX98|KIDLIA" XLMR-related protein, neurite extension KIAA2022 KIAA2022 2007-03-26 2017-05-25 2017-05-25 2023-01-20 340533 ENSG00000050030 OTTHUMG00000021860 uc004eby.4 NM_001008537 CCDS35337 Q5QGS0 "15466006|23615299|27822498" MGI:2148050 RGD:1561931 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KIAA2022 300524 122838 HGNC:29433 "ENST00000055682.12|NM_001008537.3" HGNC:29433 HGNC:29557 NEXN nexilin F-actin binding protein protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "nexilin|NELIN" nexilin (F actin binding protein) I-set domain containing 593 2004-01-09 2016-03-30 2023-01-20 91624 ENSG00000162614 OTTHUMG00000040533 uc001dic.5 AK057954 NM_144573 "CCDS41351|CCDS53335" Q0ZGT2 "12053183|8227983" MGI:1916060 RGD:708354 LRG_442|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_442.xml 613121 225306 HGNC:29557 "ENST00000334785.12|NM_144573.4" HGNC:29557 HGNC:31983 NEXN-AS1 NEXN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 FLJ90637 C1orf118 "chromosome 1 open reading frame 118|NEXN antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-06-16 2011-08-30 2012-08-15 2023-03-15 374987 ENSG00000235927 OTTHUMG00000040531 uc031uek.1 AK075118 NR_103535 Q8NBZ9 27713484 618370 NEXN-AS1 HGNC:31983 -HGNC:7765 NF1 neurofibromin 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "neurofibromatosis|von Recklinghausen disease|Watson disease" Armadillo like helical domain containing 1492 1986-01-01 2008-07-31 2023-01-20 4763 ENSG00000196712 OTTHUMG00000132871 uc002hgh.3 NM_000267 "CCDS11264|CCDS42292|CCDS45645" P21359 1715669 MGI:97306 RGD:3168 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NF1|LRG_214|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_214.xml" NF1 613113 123772 HGNC:7765 "ENST00000358273.9|NM_001042492.3" HGNC:7765 +HGNC:7765 NF1 neurofibromin 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "neurofibromatosis|von Recklinghausen disease|Watson disease" Armadillo like helical domain containing 1492 1986-01-01 2008-07-31 2023-01-20 4763 ENSG00000196712 OTTHUMG00000132871 uc002hgh.3 NM_000267 "CCDS45645|CCDS42292|CCDS11264" P21359 1715669 MGI:97306 RGD:3168 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NF1|LRG_214|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_214.xml" NF1 613113 123772 HGNC:7765 "ENST00000358273.9|NM_001042492.3" HGNC:7765 HGNC:7772 NF1P1 neurofibromin 1 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 NF1HHS Albright osteodystrophy 1992-04-06 2008-07-31 2015-05-18 100419006 ENSG00000270831 OTTHUMG00000184188 U35691 NG_025283 "1505963|8264676|8825634" PGOHUM00000292802 HGNC:7772 HGNC:38664 NF1P2 neurofibromin 1 pseudogene 2 pseudogene pseudogene Approved 15q11.2 15q11.2 2010-07-07 2015-05-18 440225 ENSG00000258997 OTTHUMG00000171730 M84131 NR_028506 PGOHUM00000292824 HGNC:38664 HGNC:7766 NF1P3 neurofibromin 1 pseudogene 3 pseudogene pseudogene Approved 21q11.2 21q11.2 NF1L1 "neurofibromin 1-like 1|neurofibromin 1-like 1 (pseudogene)" 1993-11-05 2010-10-21 2010-10-21 2015-05-18 4764 ENSG00000183249 OTTHUMG00000074232 D26141 NG_009867 "7926815|10830953" PGOHUM00000297347 HGNC:7766 @@ -22559,64 +22561,64 @@ HGNC:51736 NF1P9 neurofibromin 1 pseudogene 9 pseudogene pseudogene Approved 15q HGNC:51737 NF1P10 neurofibromin 1 pseudogene 10 pseudogene pseudogene Approved 14q11.2 14q11.2 2015-05-18 2015-05-18 106480348 ENSG00000277529 OTTHUMG00000188378 NG_045928 PGOHUM00000306529 HGNC:51737 HGNC:51738 NF1P11 neurofibromin 1 pseudogene 11 pseudogene pseudogene Approved 14q11.2 14q11.2 2015-05-18 2015-05-18 106481736 ENSG00000278184 OTTHUMG00000188370 NG_045475 PGOHUM00000292558 HGNC:51738 HGNC:51739 NF1P12 neurofibromin 1 pseudogene 12 pseudogene pseudogene Approved 12q12 12q12 2015-05-18 2015-05-18 100418983 ENSG00000258360 OTTHUMG00000169416 NG_023997 PGOHUM00000291297 HGNC:51739 -HGNC:7773 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "merlin|ACN|SCH|BANF|merlin-1" "moesin-ezrin-radixin like|schwannomin|bilateral acoustic neurofibromatosis" "neurofibromin 2 (bilateral acoustic neuroma)|neurofibromin 2 (merlin)" "A-kinase anchoring proteins|FERM domain containing" "396|1293" 1992-01-01 2021-10-07 2023-03-15 4771 ENSG00000186575 OTTHUMG00000030727 uc003age.5 L11353 NM_000268 "CCDS13865|CCDS54516|CCDS13864|CCDS13861|CCDS13862|CCDS13863" P35240 10591208 MGI:97307 RGD:3169 "Neurofibromatosis 2 (NF2) mutation database|http://www.hgmd.cf.ac.uk/nf2/|LRG_511|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_511.xml" NF2 607379 123774 HGNC:7773 "ENST00000338641.10|NM_000268.4" HGNC:7773 +HGNC:7773 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "merlin|ACN|SCH|BANF|merlin-1" "moesin-ezrin-radixin like|schwannomin|bilateral acoustic neurofibromatosis" "neurofibromin 2 (bilateral acoustic neuroma)|neurofibromin 2 (merlin)" "A-kinase anchoring proteins|FERM domain containing" "396|1293" 1992-01-01 2021-10-07 2023-03-15 4771 ENSG00000186575 OTTHUMG00000030727 uc003age.5 L11353 NM_000268 "CCDS13862|CCDS54516|CCDS13864|CCDS13861|CCDS13863|CCDS13865" P35240 10591208 MGI:97307 RGD:3169 "Neurofibromatosis 2 (NF2) mutation database|http://www.hgmd.cf.ac.uk/nf2/|LRG_511|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_511.xml" NF2 607379 123774 HGNC:7773 "ENST00000338641.10|NM_000268.4" HGNC:7773 HGNC:29872 NFAM1 NFAT activating protein with ITAM motif 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 CNAIP 2005-02-01 2023-01-20 150372 ENSG00000235568 OTTHUMG00000150923 uc003bcn.5 BC038241 NM_145912 CCDS14034 Q8NET5 12615919 MGI:1921289 RGD:1308316 608740 HGNC:29872 "ENST00000329021.10|NM_145912.8" -HGNC:29866 NFASC neurofascin protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "NRCAML|KIAA0756|FLJ46866|NF" neurofascin homolog (chicken) "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2005-11-22 2010-06-24 2023-01-20 23114 ENSG00000163531 OTTHUMG00000151697 uc001hbi.4 AK027553 NM_001005388 "CCDS91149|CCDS30982|CCDS53461|CCDS53460|CCDS53462|CCDS91150" O94856 "1377696|8672144" MGI:104753 RGD:620911 609145 HGNC:29866 "ENST00000339876.11|NM_001005388.3" HGNC:29866 -HGNC:7774 NFAT5 nuclear factor of activated T cells 5 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "TONEBP|KIAA0827|NFATL1|OREBP|NFATZ|NF-AT5" tonicity-responsive enhancer binding protein "nuclear factor of activated T-cells 5, tonicity-responsive|nuclear factor of activated T-cells 5" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1999-07-16 2017-12-06 2023-03-15 10725 ENSG00000102908 OTTHUMG00000137572 uc002exl.3 AF134870 NM_138714 "CCDS45519|CCDS10881|CCDS45518" O94916 10377394 MGI:1859333 RGD:1309142 LRG_1332|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1332.xml 604708 470770 HGNC:7774 "ENST00000349945.7|NM_138713.4" -HGNC:7775 NFATC1 nuclear factor of activated T cells 1 protein-coding gene gene with protein product Approved 18q23 18q23 "NF-ATC|NFATc|NFAT2" "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1|nuclear factor of activated T-cells 1" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1994-11-16 2017-12-06 2023-01-20 4772 ENSG00000131196 OTTHUMG00000132897 uc002lnd.4 U08015 NM_172390 "CCDS12015|CCDS59326|CCDS32850|CCDS62469|CCDS62470|CCDS59327|CCDS62471|CCDS12016|CCDS62468|CCDS62467" O95644 8202141 MGI:102469 RGD:2319357 600489 470772 HGNC:7775 "ENST00000427363.7|NM_001278669.2" -HGNC:7776 NFATC2 nuclear factor of activated T cells 2 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "NF-ATP|NFATp|NFAT1" "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2|nuclear factor of activated T-cells 2" "Nuclear factors of activated T-cells |MicroRNA protein coding host genes|IPT domain containing" "665|1691|1752" 1994-11-16 2017-12-06 2023-01-20 4773 ENSG00000101096 OTTHUMG00000032747 uc002xwd.4 "U43342|U43341" NM_012340 "CCDS33488|CCDS13437|CCDS68157|CCDS68156|CCDS46614" Q13469 8202141 MGI:102463 RGD:1307690 NFATC2 600490 HGNC:7776 "ENST00000371564.8|NM_012340.5" +HGNC:29866 NFASC neurofascin protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "NRCAML|KIAA0756|FLJ46866|NF" neurofascin homolog (chicken) "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2005-11-22 2010-06-24 2023-01-20 23114 ENSG00000163531 OTTHUMG00000151697 uc001hbi.4 AK027553 NM_001005388 "CCDS53461|CCDS91150|CCDS91149|CCDS53462|CCDS30982|CCDS53460" O94856 "1377696|8672144" MGI:104753 RGD:620911 609145 HGNC:29866 "ENST00000339876.11|NM_001005388.3" HGNC:29866 +HGNC:7774 NFAT5 nuclear factor of activated T cells 5 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "TONEBP|KIAA0827|NFATL1|OREBP|NFATZ|NF-AT5" tonicity-responsive enhancer binding protein "nuclear factor of activated T-cells 5, tonicity-responsive|nuclear factor of activated T-cells 5" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1999-07-16 2017-12-06 2023-03-15 10725 ENSG00000102908 OTTHUMG00000137572 uc002exl.3 AF134870 NM_138714 "CCDS45518|CCDS45519|CCDS10881" O94916 10377394 MGI:1859333 RGD:1309142 LRG_1332|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1332.xml 604708 470770 HGNC:7774 "ENST00000349945.7|NM_138713.4" +HGNC:7775 NFATC1 nuclear factor of activated T cells 1 protein-coding gene gene with protein product Approved 18q23 18q23 "NF-ATC|NFATc|NFAT2" "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1|nuclear factor of activated T-cells 1" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1994-11-16 2017-12-06 2023-01-20 4772 ENSG00000131196 OTTHUMG00000132897 uc002lnd.4 U08015 NM_172390 "CCDS62468|CCDS12015|CCDS62467|CCDS62470|CCDS32850|CCDS12016|CCDS59327|CCDS59326|CCDS62469|CCDS62471" O95644 8202141 MGI:102469 RGD:2319357 600489 470772 HGNC:7775 "ENST00000427363.7|NM_001278669.2" +HGNC:7776 NFATC2 nuclear factor of activated T cells 2 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "NF-ATP|NFATp|NFAT1" "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2|nuclear factor of activated T-cells 2" "Nuclear factors of activated T-cells |MicroRNA protein coding host genes|IPT domain containing" "665|1691|1752" 1994-11-16 2017-12-06 2023-01-20 4773 ENSG00000101096 OTTHUMG00000032747 uc002xwd.4 "U43342|U43341" NM_012340 "CCDS46614|CCDS68157|CCDS13437|CCDS33488|CCDS68156" Q13469 8202141 MGI:102463 RGD:1307690 NFATC2 600490 HGNC:7776 "ENST00000371564.8|NM_012340.5" HGNC:25906 NFATC2IP nuclear factor of activated T cells 2 interacting protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ14639|NIP45|RAD60|ESC2" "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein|nuclear factor of activated T-cells 2 interacting protein" MicroRNA protein coding host genes 1691 2005-01-11 2017-12-06 2023-01-20 84901 ENSG00000176953 OTTHUMG00000097763 uc002dru.4 AK074761 NM_032815 CCDS10645 Q8NCF5 15698469 MGI:1329015 RGD:1359096 614525 HGNC:25906 "ENST00000320805.9|NM_032815.4" HGNC:56085 NFATC2IP-AS1 NFATC2IP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Antisense RNAs 1987 2021-12-20 2021-12-20 123706545 ENSG00000260853 HGNC:7777 NFATC3 nuclear factor of activated T cells 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "NFAT4|NFATX|n339260" "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3|nuclear factor of activated T-cells 3" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1994-11-16 2017-12-06 2023-03-15 4775 ENSG00000072736 OTTHUMG00000137555 uc002evo.3 L41067 NM_004555 "CCDS10860|CCDS10861|CCDS10862" Q12968 7749981 MGI:103296 RGD:1308692 602698 HGNC:7777 "ENST00000346183.8|NM_173165.3" -HGNC:7778 NFATC4 nuclear factor of activated T cells 4 protein-coding gene gene with protein product Approved 14q12 14q12 NFAT3 "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4|nuclear factor of activated T-cells 4" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1994-11-16 2017-12-06 2023-01-20 4776 ENSG00000100968 OTTHUMG00000029351 uc001wpc.5 BC053855 NM_004554 "CCDS55909|CCDS86379|CCDS86380|CCDS55910|CCDS55911|CCDS73625|CCDS9629|CCDS45089" Q14934 7749981 MGI:1920431 RGD:1310749 602699 HGNC:7778 "ENST00000250373.9|NM_004554.5" +HGNC:7778 NFATC4 nuclear factor of activated T cells 4 protein-coding gene gene with protein product Approved 14q12 14q12 NFAT3 "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4|nuclear factor of activated T-cells 4" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1994-11-16 2017-12-06 2023-01-20 4776 ENSG00000100968 OTTHUMG00000029351 uc001wpc.5 BC053855 NM_004554 "CCDS45089|CCDS9629|CCDS55910|CCDS55911|CCDS55909|CCDS86379|CCDS86380|CCDS73625" Q14934 7749981 MGI:1920431 RGD:1310749 602699 HGNC:7778 "ENST00000250373.9|NM_004554.5" HGNC:7780 NFE2 nuclear factor, erythroid 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 NF-E2 "nuclear factor (erythroid-derived 2), 45kD|nuclear factor (erythroid-derived 2), 45kDa" Basic leucine zipper proteins 506 1993-11-03 2013-08-23 2023-01-20 4778 ENSG00000123405 OTTHUMG00000169761 uc001sfr.6 BC005044 NM_006163 CCDS8876 Q16621 8355703 MGI:97308 RGD:1306888 601490 470774 HGNC:7780 "ENST00000435572.7|NM_001136023.3" -HGNC:7781 NFE2L1 NFE2 like bZIP transcription factor 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "NRF1|LCR-F1|FLJ00380|NRF-1" "nuclear factor erythroid 2-related factor 1|locus control region-factor 1|transcription factor 11" TCF11 "nuclear factor (erythroid-derived 2)-like 1|nuclear factor, erythroid 2-like 1|NF-E2-related factor 1|nuclear factor, erythroid 2 like 1" Basic leucine zipper proteins 506 1994-03-24 2021-09-30 2023-01-20 4779 ENSG00000082641 OTTHUMG00000178706 uc002imz.5 AK090459 NM_003204 "CCDS82151|CCDS82150|CCDS11524" Q14494 "8248256|9501099|26947393" MGI:99421 RGD:1311972 163260 HGNC:7781 "ENST00000362042.8|NM_003204.3" +HGNC:7781 NFE2L1 NFE2 like bZIP transcription factor 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "NRF1|LCR-F1|FLJ00380|NRF-1" "nuclear factor erythroid 2-related factor 1|locus control region-factor 1|transcription factor 11" TCF11 "nuclear factor (erythroid-derived 2)-like 1|nuclear factor, erythroid 2-like 1|NF-E2-related factor 1|nuclear factor, erythroid 2 like 1" Basic leucine zipper proteins 506 1994-03-24 2021-09-30 2023-01-20 4779 ENSG00000082641 OTTHUMG00000178706 uc002imz.5 AK090459 NM_003204 "CCDS11524|CCDS82150|CCDS82151" Q14494 "8248256|9501099|26947393" MGI:99421 RGD:1311972 163260 HGNC:7781 "ENST00000362042.8|NM_003204.3" HGNC:54812 NFE2L1-DT NFE2L1 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Divergent transcripts 1990 2020-01-17 2020-07-16 116435298 ENSG00000263412 NR_170231 32079618 -HGNC:7782 NFE2L2 NFE2 like bZIP transcription factor 2 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "NRF2|NRF-2" NF-E2-related factor 2 "nuclear factor (erythroid-derived 2)-like 2|nuclear factor, erythroid 2-like 2|nuclear factor, erythroid 2 like 2" "Basic leucine zipper proteins|MicroRNA protein coding host genes" "506|1691" 1994-03-24 2021-09-30 2023-01-20 4780 ENSG00000116044 OTTHUMG00000133620 uc061qac.1 NM_006164 "CCDS92904|CCDS46457|CCDS42782|CCDS92903|CCDS46458" Q16236 7937919 MGI:108420 RGD:620360 NFE2L2 600492 objectId:3057 HGNC:7782 "ENST00000397062.8|NM_006164.5" HGNC:7782 +HGNC:7782 NFE2L2 NFE2 like bZIP transcription factor 2 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "NRF2|NRF-2" NF-E2-related factor 2 "nuclear factor (erythroid-derived 2)-like 2|nuclear factor, erythroid 2-like 2|nuclear factor, erythroid 2 like 2" "Basic leucine zipper proteins|MicroRNA protein coding host genes" "506|1691" 1994-03-24 2021-09-30 2023-01-20 4780 ENSG00000116044 OTTHUMG00000133620 uc061qac.1 NM_006164 "CCDS46458|CCDS46457|CCDS92903|CCDS42782|CCDS92904" Q16236 7937919 MGI:108420 RGD:620360 NFE2L2 600492 objectId:3057 HGNC:7782 "ENST00000397062.8|NM_006164.5" HGNC:7782 HGNC:7783 NFE2L3 NFE2 like bZIP transcription factor 3 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 Nrf3 "nuclear factor (erythroid-derived 2)-like 3|nuclear factor, erythroid 2-like 3|nuclear factor, erythroid 2 like 3" Basic leucine zipper proteins 506 1999-06-03 2021-09-30 2023-01-20 9603 ENSG00000050344 OTTHUMG00000023882 uc003sxq.4 AB010812 NM_004289 CCDS5396 Q9Y4A8 "10037736|21687990" MGI:1339958 RGD:1307730 604135 HGNC:7783 "ENST00000056233.4|NM_004289.7" HGNC:22278 NFE2L3P1 nuclear factor, erythroid 2 like 3 pseudogene 1 pseudogene pseudogene Approved 18q21.32 18q21.32 "nuclear factor (erythroid-derived 2)-like 3 pseudogene 1|nuclear factor, erythroid 2-like 3 pseudogene 1" 2010-09-30 2015-11-18 2016-11-09 642996 ENSG00000267497 OTTHUMG00000179951 NG_011711 PGOHUM00000294802 HGNC:22278 HGNC:44191 NFE2L3P2 nuclear factor, erythroid 2 like 3 pseudogene 2 pseudogene pseudogene Approved 17q21.32 17q21.32 "nuclear factor (erythroid-derived 2)-like 3 pseudogene 2|nuclear factor, erythroid 2-like 3 pseudogene 2" 2012-06-30 2015-11-18 2015-11-18 100272146 NG_029197 PGOHUM00000237425 HGNC:44191 HGNC:29902 NFE4 nuclear factor, erythroid 4 other unknown Approved 7q22.1 07q22.1 NF-E4 2013-08-23 2023-03-15 58160 ENSG00000230257 OTTHUMG00000157208 NR_166510 Q86UQ8 11003662 612133 HGNC:29902 -HGNC:7784 NFIA nuclear factor I A protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "NFI-L|KIAA1439" nuclear factor I/A Nuclear factor I family 1985 1995-03-09 2016-04-06 2023-01-20 4774 ENSG00000162599 OTTHUMG00000008618 uc001czw.4 U07809 NM_005595 "CCDS53322|CCDS53321|CCDS44156|CCDS615" Q12857 7590749 MGI:108056 RGD:3170 600727 409843 HGNC:7784 "ENST00000403491.8|NM_001134673.4" HGNC:7784 +HGNC:7784 NFIA nuclear factor I A protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "NFI-L|KIAA1439" nuclear factor I/A Nuclear factor I family 1985 1995-03-09 2016-04-06 2023-01-20 4774 ENSG00000162599 OTTHUMG00000008618 uc001czw.4 U07809 NM_005595 "CCDS44156|CCDS615|CCDS53322|CCDS53321" Q12857 7590749 MGI:108056 RGD:3170 600727 409843 HGNC:7784 "ENST00000403491.8|NM_001134673.4" HGNC:7784 HGNC:40402 NFIA-AS1 NFIA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 RP5-833A20.1 Antisense RNAs 1987 2014-05-21 2016-12-16 645030 ENSG00000237853 OTTHUMG00000040631 NR_104180 "25265644|27779670" NFIA-AS1 HGNC:40402 HGNC:40401 NFIA-AS2 NFIA antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Antisense RNAs 1987 2014-05-21 2014-11-19 100996570 ENSG00000237928 OTTHUMG00000008421 NR_110617 NFIA-AS2 HGNC:40401 -HGNC:7785 NFIB nuclear factor I B protein-coding gene gene with protein product Approved 9p23-p22.3 09p23-p22.3 "NFI-RED|NFIB2|NFIB3" nuclear factor I/B Nuclear factor I family 1985 1995-03-09 2016-04-06 2023-01-20 4781 ENSG00000147862 OTTHUMG00000021027 uc003zle.4 U07810 NM_005596 "CCDS94382|CCDS6474|CCDS65007|CCDS94388|CCDS94386|CCDS55292|CCDS94385|CCDS94387|CCDS94384|CCDS94390|CCDS94389|CCDS94383|CCDS55291" O00712 7590749 MGI:103188 RGD:62015 NFIB 600728 470776 HGNC:7785 "ENST00000380953.6|NM_001190737.2" HGNC:7785 +HGNC:7785 NFIB nuclear factor I B protein-coding gene gene with protein product Approved 9p23-p22.3 09p23-p22.3 "NFI-RED|NFIB2|NFIB3" nuclear factor I/B Nuclear factor I family 1985 1995-03-09 2016-04-06 2023-01-20 4781 ENSG00000147862 OTTHUMG00000021027 uc003zle.4 U07810 NM_005596 "CCDS94382|CCDS94384|CCDS94385|CCDS94390|CCDS94383|CCDS55291|CCDS94387|CCDS94389|CCDS55292|CCDS94388|CCDS65007|CCDS94386|CCDS6474" O00712 7590749 MGI:103188 RGD:62015 NFIB 600728 470776 HGNC:7785 "ENST00000380953.6|NM_001190737.2" HGNC:7785 HGNC:56058 NFIB-AS1 NFIB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p22.3 09p22.3 AL136366.1 Antisense RNAs 1987 2021-12-09 2023-01-25 123706550 ENSG00000225472 XR_007061418 -HGNC:7786 NFIC nuclear factor I C protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CTF|NF-I|CTF5" CCAAT-binding transcription factor NFI nuclear factor I/C (CCAAT-binding transcription factor) Nuclear factor I family 1985 1993-12-15 2016-04-06 2023-01-20 4782 ENSG00000141905 OTTHUMG00000180731 uc002lxp.4 X12492 NM_005597 "CCDS45914|CCDS12107|CCDS59331|CCDS58640|CCDS59330" P08651 "3398920|7590749" MGI:109591 RGD:62016 600729 HGNC:7786 "ENST00000443272.3|NM_001245002.2" +HGNC:7786 NFIC nuclear factor I C protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CTF|NF-I|CTF5" CCAAT-binding transcription factor NFI nuclear factor I/C (CCAAT-binding transcription factor) Nuclear factor I family 1985 1993-12-15 2016-04-06 2023-01-20 4782 ENSG00000141905 OTTHUMG00000180731 uc002lxp.4 X12492 NM_005597 "CCDS45914|CCDS12107|CCDS59331|CCDS59330|CCDS58640" P08651 "3398920|7590749" MGI:109591 RGD:62016 600729 HGNC:7786 "ENST00000443272.3|NM_001245002.2" HGNC:7787 NFIL3 nuclear factor, interleukin 3 regulated protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "E4BP4|NFIL3A|NF-IL3A" "E4 promoter-binding protein|adenovirus E4 promoter region binding protein" IL3BP1 interleukin-3 binding protein 1 Basic leucine zipper proteins 506 1995-02-13 2023-01-20 4783 ENSG00000165030 OTTHUMG00000020209 uc004arh.3 X64318 NM_005384 CCDS6690 Q16649 "7565758|1620116" MGI:109495 RGD:620972 605327 HGNC:7787 "ENST00000297689.4|NM_005384.3" HGNC:52681 NFILZ NFIL3 like basic leucine zipper protein-coding gene gene with protein product Approved 19p13.2 19p13.2 LINC01862 long intergenic non-protein coding RNA 1862 Basic leucine zipper proteins 506 2016-12-01 2020-02-27 2020-02-27 2023-01-20 105372267 ENSG00000268480 OTTHUMG00000182192 NM_001378599 CCDS92505 A0A5F9ZHS7 MGI:3782301 RGD:7708626 HGNC:52681 "ENST00000691075.1|NM_001378600.1" -HGNC:7788 NFIX nuclear factor I X protein-coding gene gene with protein product Approved 19p13.13 19p13.13 NF1A CCAAT-binding transcription factor nuclear factor I/X (CCAAT-binding transcription factor) Nuclear factor I family 1985 1993-11-03 2016-04-06 2023-01-20 4784 ENSG00000008441 OTTHUMG00000180726 uc002mwd.4 U18761 NM_002501 "CCDS92532|CCDS59359|CCDS92533|CCDS92530|CCDS45996|CCDS92531" Q14938 "8340106|7590749" MGI:97311 RGD:69080 164005 239888 HGNC:7788 "ENST00000592199.6|NM_001365902.3" HGNC:7788 -HGNC:7794 NFKB1 nuclear factor kappa B subunit 1 protein-coding gene gene with protein product Approved 4q24 04q24 "KBF1|p105|NFKB-p50|p50|NF-kappaB|NFkappaB|NF-kB1" Nuclear factor NF-kappa-B p105 subunit nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 "Ankyrin repeat domain containing|NF-kappa B complex subunits|IPT domain containing" "403|1254|1752" 1991-11-14 2016-04-29 2023-01-20 4790 ENSG00000109320 OTTHUMG00000161080 uc011cep.2 M58603 NM_003998 "CCDS54783|CCDS3657" P19838 1992489 MGI:97312 RGD:70498 LRG_1316|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1316.xml 164011 438054 HGNC:7794 "ENST00000226574.9|NM_003998.4" HGNC:7794 +HGNC:7788 NFIX nuclear factor I X protein-coding gene gene with protein product Approved 19p13.13 19p13.13 NF1A CCAAT-binding transcription factor nuclear factor I/X (CCAAT-binding transcription factor) Nuclear factor I family 1985 1993-11-03 2016-04-06 2023-01-20 4784 ENSG00000008441 OTTHUMG00000180726 uc002mwd.4 U18761 NM_002501 "CCDS45996|CCDS92531|CCDS92530|CCDS59359|CCDS92533|CCDS92532" Q14938 "8340106|7590749" MGI:97311 RGD:69080 164005 239888 HGNC:7788 "ENST00000592199.6|NM_001365902.3" HGNC:7788 +HGNC:7794 NFKB1 nuclear factor kappa B subunit 1 protein-coding gene gene with protein product Approved 4q24 04q24 "KBF1|p105|NFKB-p50|p50|NF-kappaB|NFkappaB|NF-kB1" Nuclear factor NF-kappa-B p105 subunit nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 "Ankyrin repeat domain containing|NF-kappa B complex subunits|IPT domain containing" "403|1254|1752" 1991-11-14 2016-04-29 2023-01-20 4790 ENSG00000109320 OTTHUMG00000161080 uc011cep.2 M58603 NM_003998 "CCDS3657|CCDS54783" P19838 1992489 MGI:97312 RGD:70498 LRG_1316|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1316.xml 164011 438054 HGNC:7794 "ENST00000226574.9|NM_003998.4" HGNC:7794 HGNC:7795 NFKB2 nuclear factor kappa B subunit 2 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "LYT-10|p52|p105|NF-kB2|p49/p100" nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) "Ankyrin repeat domain containing|NF-kappa B complex subunits|IPT domain containing" "403|1254|1752" 1991-11-14 2016-04-29 2023-01-20 4791 ENSG00000077150 OTTHUMG00000018962 uc001kvb.6 X61498 NM_001077494 "CCDS41564|CCDS41565" Q00653 1876189 MGI:1099800 RGD:1307189 LRG_1347|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1347.xml NFKB2 164012 371170 HGNC:7795 "ENST00000661543.1|NM_001322934.2" HGNC:7795 HGNC:7797 NFKBIA NFKB inhibitor alpha protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "IKBA|MAD-3|IkappaBalpha" NF-kappa-B inhibitor alpha NFKBI nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha Ankyrin repeat domain containing 403 1992-02-13 2016-02-25 2023-01-20 4792 ENSG00000100906 OTTHUMG00000140220 uc001wtf.5 NM_020529 CCDS9656 P25963 1829648 MGI:104741 RGD:3171 "NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency|http://structure.bmc.lu.se/idbase/NFKBIAbase/|LRG_89|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_89.xml" 164008 159788 HGNC:7797 "ENST00000216797.10|NM_020529.3" HGNC:7797 -HGNC:7798 NFKBIB NFKB inhibitor beta protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "IKBB|TRIP9" NF-kappa-B inhibitor beta nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta Ankyrin repeat domain containing 403 1997-07-01 2016-02-25 2023-03-15 4793 ENSG00000104825 OTTHUMG00000177631 uc002ojw.4 L40407 NM_002503 "CCDS92612|CCDS74362|CCDS12524" Q15653 9763672 MGI:104752 RGD:621887 604495 HGNC:7798 "ENST00000313582.6|NM_002503.5" +HGNC:7798 NFKBIB NFKB inhibitor beta protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "IKBB|TRIP9" NF-kappa-B inhibitor beta nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta Ankyrin repeat domain containing 403 1997-07-01 2016-02-25 2023-03-15 4793 ENSG00000104825 OTTHUMG00000177631 uc002ojw.4 L40407 NM_002503 "CCDS12524|CCDS74362|CCDS92612" Q15653 9763672 MGI:104752 RGD:621887 604495 HGNC:7798 "ENST00000313582.6|NM_002503.5" HGNC:15671 NFKBID NFKB inhibitor delta protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "TA-NFKBH|IkappaBNS|IkBNS" NF-kappa-B inhibitor delta nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta Ankyrin repeat domain containing 403 2008-04-10 2016-02-25 2023-01-20 84807 ENSG00000167604 OTTHUMG00000180760 uc060xkk.1 AF385434 NM_032721 "CCDS42552|CCDS92601" Q8NI38 30127089 MGI:3041243 RGD:1308055 618887 HGNC:15671 HGNC:7799 NFKBIE NFKB inhibitor epsilon protein-coding gene gene with protein product Approved 6p21.1 06p21.1 IKBE NF-kappa-B inhibitor epsilon nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon Ankyrin repeat domain containing 403 1997-07-01 2016-02-25 2023-01-20 4794 ENSG00000146232 OTTHUMG00000014762 uc003oxe.1 U91616 NM_004556 CCDS34463 O00221 9135156 MGI:1194908 RGD:735070 NFKBIE 604548 HGNC:7799 "ENST00000619360.6|NM_004556.3" -HGNC:7800 NFKBIL1 NFKB inhibitor like 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 IKBL NF-kappa-B inhibitor-like protein 1 NFKBIL nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 1994-09-12 2016-02-25 2023-01-20 4795 ENSG00000204498 OTTHUMG00000031038 uc003nub.4 X77909 NM_005007 "CCDS47399|CCDS4700|CCDS47400" Q9UBC1 8081366 MGI:1340031 RGD:1303310 601022 HGNC:7800 "ENST00000376148.9|NM_005007.4" -HGNC:29805 NFKBIZ NFKB inhibitor zeta protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "MAIL|FLJ34463|INAP" "IL-1 inducible nuclear ankyrin-repeat protein|NF-kappa-B inhibitor zeta" nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta Ankyrin repeat domain containing 403 2004-09-29 2016-02-25 2023-01-20 64332 ENSG00000144802 OTTHUMG00000159194 uc003dvp.4 AF548362 NM_031419 "CCDS2946|CCDS43123" Q9BYH8 "12565889|16513645" MGI:1931595 RGD:1310834 608004 objectId:3008 HGNC:29805 "ENST00000326172.9|NM_031419.4" HGNC:29805 -HGNC:7802 NFRKB nuclear factor related to kappaB binding protein protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "DKFZp547B2013|INO80G" "nuclear factor related to kappa B binding protein|DNA-binding protein R kappa B|INO80 complex subunit G" INO80 complex 595 1992-06-22 2023-01-20 4798 ENSG00000170322 OTTHUMG00000165761 uc058jbv.1 NM_006165 "CCDS44770|CCDS8483" Q6P4R8 1427843 MGI:2442410 RGD:1310558 164013 HGNC:7802 "ENST00000682444.1|NM_001143835.2" -HGNC:15910 NFS1 NFS1 cysteine desulfurase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "NifS|IscS" "nitrogen fixation 1 (S. cerevisiae, homolog)|NFS1 nitrogen fixation 1 homolog (S. cerevisiae)" Mitochondrial iron-sulfur assembly components 1853 2001-08-01 2019-01-21 2023-03-15 9054 ENSG00000244005 OTTHUMG00000032361 uc002xdw.3 AF097025 NM_021100 "CCDS56185|CCDS13262" Q9Y697 "9885568|16847322" MGI:1316706 RGD:620912 603485 400611 2.8.1.7 HGNC:15910 "ENST00000374092.9|NM_021100.5" HGNC:15910 -HGNC:16287 NFU1 NFU1 iron-sulfur cluster scaffold protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "CGI-33|NifU|NIFUC" HIRIP5 "HIRA interacting protein 5|NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)" Mitochondrial iron-sulfur assembly components 1853 2001-10-30 2006-10-24 2014-07-03 2023-01-20 27247 ENSG00000169599 OTTHUMG00000152668 uc002sfk.4 AJ132584 NM_015700 "CCDS46315|CCDS42694|CCDS33217" Q9UMS0 "11342215|12886008" MGI:1913290 RGD:1307823 608100 289576 HGNC:16287 "ENST00000410022.7|NM_001002755.4" HGNC:16287 +HGNC:7800 NFKBIL1 NFKB inhibitor like 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 IKBL NF-kappa-B inhibitor-like protein 1 NFKBIL nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 1994-09-12 2016-02-25 2023-01-20 4795 ENSG00000204498 OTTHUMG00000031038 uc003nub.4 X77909 NM_005007 "CCDS47400|CCDS47399|CCDS4700" Q9UBC1 8081366 MGI:1340031 RGD:1303310 601022 HGNC:7800 "ENST00000376148.9|NM_005007.4" +HGNC:29805 NFKBIZ NFKB inhibitor zeta protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "MAIL|FLJ34463|INAP" "IL-1 inducible nuclear ankyrin-repeat protein|NF-kappa-B inhibitor zeta" nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta Ankyrin repeat domain containing 403 2004-09-29 2016-02-25 2023-01-20 64332 ENSG00000144802 OTTHUMG00000159194 uc003dvp.4 AF548362 NM_031419 "CCDS43123|CCDS2946" Q9BYH8 "12565889|16513645" MGI:1931595 RGD:1310834 608004 objectId:3008 HGNC:29805 "ENST00000326172.9|NM_031419.4" HGNC:29805 +HGNC:7802 NFRKB nuclear factor related to kappaB binding protein protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "DKFZp547B2013|INO80G" "nuclear factor related to kappa B binding protein|DNA-binding protein R kappa B|INO80 complex subunit G" INO80 complex 595 1992-06-22 2023-01-20 4798 ENSG00000170322 OTTHUMG00000165761 uc058jbv.1 NM_006165 "CCDS8483|CCDS44770" Q6P4R8 1427843 MGI:2442410 RGD:1310558 164013 HGNC:7802 "ENST00000682444.1|NM_001143835.2" +HGNC:15910 NFS1 NFS1 cysteine desulfurase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "NifS|IscS" "nitrogen fixation 1 (S. cerevisiae, homolog)|NFS1 nitrogen fixation 1 homolog (S. cerevisiae)" Mitochondrial iron-sulfur assembly components 1853 2001-08-01 2019-01-21 2023-03-15 9054 ENSG00000244005 OTTHUMG00000032361 uc002xdw.3 AF097025 NM_021100 "CCDS13262|CCDS56185" Q9Y697 "9885568|16847322" MGI:1316706 RGD:620912 603485 400611 2.8.1.7 HGNC:15910 "ENST00000374092.9|NM_021100.5" HGNC:15910 +HGNC:16287 NFU1 NFU1 iron-sulfur cluster scaffold protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "CGI-33|NifU|NIFUC" HIRIP5 "HIRA interacting protein 5|NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)" Mitochondrial iron-sulfur assembly components 1853 2001-10-30 2006-10-24 2014-07-03 2023-01-20 27247 ENSG00000169599 OTTHUMG00000152668 uc002sfk.4 AJ132584 NM_015700 "CCDS42694|CCDS46315|CCDS33217" Q9UMS0 "11342215|12886008" MGI:1913290 RGD:1307823 608100 289576 HGNC:16287 "ENST00000410022.7|NM_001002755.4" HGNC:16287 HGNC:44553 NFU1P1 NFU1 iron-sulfur cluster scaffold pseudogene 1 pseudogene pseudogene Approved 3p22.1 03p22.1 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) pseudogene 1 2012-11-15 2014-07-03 2014-07-03 100132681 ENSG00000230757 OTTHUMG00000156282 NG_022247 PGOHUM00000238002 HGNC:44553 HGNC:44554 NFU1P2 NFU1 iron-sulfur cluster scaffold pseudogene 2 pseudogene pseudogene Approved 1p21.3 01p21.3 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) pseudogene 2 2012-11-15 2014-07-03 2014-07-03 100132699 ENSG00000233557 OTTHUMG00000010679 NG_022795 PGOHUM00000244809 HGNC:44554 HGNC:7803 NFX1 nuclear transcription factor, X-box binding 1 protein-coding gene gene with protein product Approved 9p12 09p12 "NFX2|MGC20369|Tex42|TEG-42" "Ring finger proteins|PHD finger proteins" "58|88" 1998-05-26 2023-01-20 4799 ENSG00000086102 OTTHUMG00000019772 uc003zsq.4 U19759 NM_001318758 Q12986 "7964459|2511169|12047746" MGI:1921414 RGD:1310277 603255 HGNC:7803 "ENST00000379540.8|NM_002504.6" HGNC:18726 NFXL1 nuclear transcription factor, X-box binding like 1 protein-coding gene gene with protein product Approved 4p12 04p12 HOZFP ovarian zinc finger protein Ring finger proteins 58 2002-06-05 2016-02-29 2023-01-20 152518 ENSG00000170448 OTTHUMG00000128621 uc010igi.4 AY134856 NM_152995 CCDS3478 Q6ZNB6 20522174 MGI:1923646 RGD:1359201 460881 HGNC:18726 "ENST00000507489.2|NM_001278624.2" -HGNC:7804 NFYA nuclear transcription factor Y subunit alpha protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "HAP2|CBF-B|NF-YA" nuclear transcription factor Y, alpha 1991-11-08 2015-11-11 2023-01-20 4800 ENSG00000001167 OTTHUMG00000014669 uc003opo.4 NM_002505 "CCDS4850|CCDS4849" P23511 "1774067|9612081" MGI:97316 RGD:70976 189903 HGNC:7804 "ENST00000341376.11|NM_002505.5" +HGNC:7804 NFYA nuclear transcription factor Y subunit alpha protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "HAP2|CBF-B|NF-YA" nuclear transcription factor Y, alpha 1991-11-08 2015-11-11 2023-01-20 4800 ENSG00000001167 OTTHUMG00000014669 uc003opo.4 NM_002505 "CCDS4849|CCDS4850" P23511 "1774067|9612081" MGI:97316 RGD:70976 189903 HGNC:7804 "ENST00000341376.11|NM_002505.5" HGNC:34078 NFYAP1 nuclear transcription factor Y subunit alpha pseudogene 1 pseudogene pseudogene Approved 13q21.31 13q21.31 NFYAP "nuclear transcription factor Y, alpha pseudogene|nuclear transcription factor Y, alpha pseudogene 1" 2008-04-18 2010-02-26 2015-11-11 2015-11-11 100130677 ENSG00000237849 OTTHUMG00000017027 NG_007867 HGNC:34078 HGNC:7805 NFYB nuclear transcription factor Y subunit beta protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "CBF-A|HAP3|NF-YB" nuclear transcription factor Y, beta 1991-11-08 2015-11-11 2023-01-20 4801 ENSG00000120837 OTTHUMG00000170176 uc001tkl.2 NM_001414518 CCDS9098 P25208 "1774067|9612081" MGI:97317 RGD:3172 189904 HGNC:7805 "ENST00000240055.8|NM_006166.4" HGNC:54604 NFYBP1 NFYB pseudogene 1 pseudogene pseudogene Approved 3q13.13 03q13.13 2019-10-16 2019-10-16 440973 ENSG00000214380 OTTHUMG00000159219 NG_022215 PGOHUM00000299126 -HGNC:7806 NFYC nuclear transcription factor Y subunit gamma protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "CBF-C|NF-YC" nuclear transcription factor Y, gamma MicroRNA protein coding host genes 1691 1996-10-26 2015-11-11 2023-01-20 4802 ENSG00000066136 OTTHUMG00000007729 uc009vwd.5 U78774 NM_014223 "CCDS81306|CCDS44120|CCDS44122|CCDS44121|CCDS81305|CCDS44123|CCDS455" Q13952 "8921405|9249075" MGI:107901 RGD:3173 605344 HGNC:7806 "ENST00000447388.8|NM_014223.5" +HGNC:7806 NFYC nuclear transcription factor Y subunit gamma protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "CBF-C|NF-YC" nuclear transcription factor Y, gamma MicroRNA protein coding host genes 1691 1996-10-26 2015-11-11 2023-01-20 4802 ENSG00000066136 OTTHUMG00000007729 uc009vwd.5 U78774 NM_014223 "CCDS81306|CCDS455|CCDS81305|CCDS44120|CCDS44122|CCDS44123|CCDS44121" Q13952 "8921405|9249075" MGI:107901 RGD:3173 605344 HGNC:7806 "ENST00000447388.8|NM_014223.5" HGNC:49451 NFYC-AS1 NFYC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 0808y08y Antisense RNAs 1987 2013-12-03 2013-12-03 100130557 ENSG00000272145 OTTHUMG00000185712 NR_024567 NFYC-AS1 HGNC:49451 HGNC:54923 NFYCP1 NFYC pseudogene 1 pseudogene pseudogene Approved Xp21.1 Xp21.1 2020-04-29 2020-04-29 100128345 ENSG00000233880 NG_022655 HGNC:54924 NFYCP2 NFYC pseudogene 2 pseudogene pseudogene Approved 9q21.33 09q21.33 2020-04-29 2020-04-29 494127 ENSG00000224887 NR_036691 HGNC:14077 NGB neuroglobin protein-coding gene gene with protein product Approved 14q24.3 14q24.3 2000-11-28 2023-01-20 58157 ENSG00000165553 OTTHUMG00000171558 uc001xtg.2 AJ245946 NM_021257 CCDS9856 Q9NPG2 "11029004|17210637" MGI:2151886 RGD:621461 605304 HGNC:14077 "ENST00000298352.5|NM_021257.4" -HGNC:20271 NGDN neuroguidin protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "DKFZP564O092|LCP5|lpd-2|NGD|CANu1" C14orf120 "chromosome 14 open reading frame 120|neuroguidin, EIF4E binding protein" SSU processome 1484 2003-01-17 2006-08-02 2015-11-23 2023-01-20 25983 ENSG00000129460 OTTHUMG00000171501 uc001wjz.4 AK022215 NM_001042635 "CCDS41926|CCDS32051" Q8NEJ9 16705177 MGI:1916216 RGD:1310211 610777 HGNC:20271 "ENST00000408901.8|NM_001042635.2" +HGNC:20271 NGDN neuroguidin protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "DKFZP564O092|LCP5|lpd-2|NGD|CANu1" C14orf120 "chromosome 14 open reading frame 120|neuroguidin, EIF4E binding protein" SSU processome 1484 2003-01-17 2006-08-02 2015-11-23 2023-01-20 25983 ENSG00000129460 OTTHUMG00000171501 uc001wjz.4 AK022215 NM_001042635 "CCDS32051|CCDS41926" Q8NEJ9 16705177 MGI:1916216 RGD:1310211 610777 HGNC:20271 "ENST00000408901.8|NM_001042635.2" HGNC:7807 NGEF neuronal guanine nucleotide exchange factor protein-coding gene gene with protein product Approved 2q37.1 02q37.1 ARHGEF27 "ephexin|ephexin1" Dbl family Rho GEFs 722 1999-11-16 2023-01-20 25791 ENSG00000066248 OTTHUMG00000133272 uc002vts.3 AJ238899 NM_019850 "CCDS2500|CCDS46544" Q8N5V2 10777665 MGI:1858414 RGD:1309055 605991 HGNC:7807 "ENST00000264051.8|NM_019850.3" HGNC:7808 NGF nerve growth factor protein-coding gene gene with protein product Approved 1p13.2 01p13.2 NGFB nerve growth factor (beta polypeptide) Neurotrophins 1585 2001-06-22 2008-02-07 2016-03-09 2023-01-20 4803 ENSG00000134259 OTTHUMG00000011880 uc001efu.2 NM_002506 CCDS882 P01138 MGI:97321 RGD:1598328 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_260|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_260.xml" 162030 123777 ligandId:5026 HGNC:7808 "ENST00000369512.3|NM_002506.3" HGNC:7808 HGNC:53922 NGF-AS1 NGF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 RP4-663N10.1 Antisense RNAs 1987 2018-06-08 2018-06-08 112840934 ENSG00000228035 OTTHUMG00000011974 NR_157569 29855537 HGNC:53922 HGNC:7809 NGFR nerve growth factor receptor protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "TNFRSF16|CD271|p75NTR" "low affinity nerve growth factor receptor|TNFR superfamily, member 16" nerve growth factor receptor (TNFR superfamily, member 16) "CD molecules|Tumor necrosis factor receptor superfamily|MicroRNA protein coding host genes" "471|782|1691" 2001-06-22 2010-04-28 2023-01-20 4804 ENSG00000064300 OTTHUMG00000161495 uc002ioz.5 M14764 NM_002507 CCDS11549 P08138 "3022937|3006050" MGI:97323 RGD:3177 162010 470778 objectId:1888 CD271 HGNC:7809 "ENST00000172229.8|NM_002507.4" HGNC:55555 NGFR-AS1 NGFR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 Antisense RNAs 1987 2021-04-07 2021-04-07 100288866 ENSG00000249906 NR_103773 -HGNC:17646 NGLY1 N-glycanase 1 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "FLJ11005|PNG1|PNG-1" "peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase|peptide:N-glycanase" 2002-06-07 2023-01-20 55768 ENSG00000151092 OTTHUMG00000155600 uc003cdl.4 AF250924 NM_001145293 "CCDS33719|CCDS46778|CCDS46779|CCDS46777" Q96IV0 MGI:1913276 RGD:1308518 610661 406885 3.5.1.52 HGNC:17646 "ENST00000280700.10|NM_018297.4" HGNC:17646 +HGNC:17646 NGLY1 N-glycanase 1 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "FLJ11005|PNG1|PNG-1" "peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase|peptide:N-glycanase" 2002-06-07 2023-01-20 55768 ENSG00000151092 OTTHUMG00000155600 uc003cdl.4 AF250924 NM_001145293 "CCDS46778|CCDS46779|CCDS33719|CCDS46777" Q96IV0 MGI:1913276 RGD:1308518 610661 406885 3.5.1.52 HGNC:17646 "ENST00000280700.10|NM_018297.4" HGNC:17646 HGNC:18077 NGRN neugrin, neurite outgrowth associated protein-coding gene gene with protein product Approved 15q26.1 15q26.1 DSC92 2005-07-25 2023-03-15 51335 ENSG00000182768 OTTHUMG00000149807 uc002bpf.2 AB029315 NM_001033088 CCDS32329 Q9NPE2 11118320 MGI:1933212 RGD:1583734 616718 HGNC:18077 "ENST00000379095.5|NM_001033088.3" HGNC:56570 NGRNP1 NGRN pseudogene 1 pseudogene pseudogene Approved 3q26.1 03q26.1 2022-11-02 2022-11-02 730129 ENSG00000214210 NG_012756 PGOHUM00000299257 HGNC:56571 NGRNP2 NGRN pseudogene 2 pseudogene pseudogene Approved 6q13 06q13 2022-11-02 2022-11-02 100131890 ENSG00000219575 NG_022310 PGOHUM00000301425 @@ -22624,8 +22626,8 @@ HGNC:56572 NGRNP3 NGRN pseudogene 3 pseudogene pseudogene Approved 7p22.3 07p22. HGNC:56731 NHEG1 neuroblastoma highly expressed DDX5 stabilizing lncRNA 1 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 neuroblastoma highly expressed 1 Long non-coding RNAs with non-systematic symbols 1992 2023-02-13 2023-02-13 100294720 ENSG00000225391 NR_027994 31982037 HGNC:25737 NHEJ1 non-homologous end joining factor 1 protein-coding gene gene with protein product Approved 2q35 02q35 "Cernunnos|XLF|FLJ12610" XRCC4-like factor nonhomologous end-joining factor 1 2006-03-30 2015-11-18 2023-01-20 79840 ENSG00000187736 OTTHUMG00000133127 uc002vjp.5 AJ972687 NM_024782 "CCDS2432|CCDS92945" Q9H9Q4 "16439204|16439205" MGI:1922820 RGD:1359338 "NHEJ1base: Mutation registry for Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR|http://structure.bmc.lu.se/idbase/NHEJ1base/|LRG_90|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_90.xml" 611290 159501 HGNC:25737 "ENST00000356853.10|NM_024782.3" HGNC:25737 HGNC:11075 NHERF1 NHERF family PDZ scaffold protein 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "NHERF|EBP50|NHERF-1|NHE-RF" "ezrin-radixin-moesin-binding phosphoprotein 50|Na(+)/H(+) exchange regulatory cofactor 1" SLC9A3R1 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1|solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1|solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1|SLC9A3 regulator 1" "PDZ domain containing|MicroRNA protein coding host genes|NHERF family PDZ scaffold proteins" "1220|1691|2226" 1999-02-26 2022-10-26 2022-10-26 2023-01-20 9368 ENSG00000109062 OTTHUMG00000178863 uc002jlo.5 AF015926 NM_004252 CCDS11705 O14745 "9314537|9430655|15932893" MGI:1349482 RGD:708538 604990 244322 HGNC:11075 "ENST00000262613.10|NM_004252.5" HGNC:11075 -HGNC:11076 NHERF2 NHERF family PDZ scaffold protein 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SIP-1|TKA-1|NHERF-2|E3KARP|OCTS2" "Na(+)/H(+) exchange regulatory cofactor 2|SRY-interacting protein 1|NHE3 kinase A regulatory protein|Tyrosine kinase activator protein 1" SLC9A3R2 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2|solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2|solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2|SLC9A3 regulator 2" "PDZ domain containing|NHERF family PDZ scaffold proteins" "1220|2226" 1999-02-26 2022-10-26 2022-10-26 2023-01-20 9351 ENSG00000065054 OTTHUMG00000176956 uc002coi.3 AF004900 NM_001130012 "CCDS45383|CCDS45382|CCDS58407" Q15599 "9054412|9671706|12649600" MGI:1890662 RGD:620380 606553 471108 HGNC:11076 "ENST00000424542.7|NM_001130012.3" -HGNC:19891 NHERF4 NHERF family PDZ scaffold protein 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "FLJ22756|IKEPP|NaPi-Cap2" "Na/Pi cotransporter C-terminal-associated protein 2|Na(+)/H(+) exchange regulatory cofactor 4|Intestinal and kidney-enriched PDZ protein" "PDZK2|PDZD3" "PDZ domain containing 2|PDZ domain containing 3" "PDZ domain containing|NHERF family PDZ scaffold proteins" "1220|2226" 2003-01-13 2022-10-26 2022-10-26 2023-01-20 79849 ENSG00000172367 OTTHUMG00000166224 uc001pvz.4 AK091966 NM_024791 "CCDS53719|CCDS8417" Q86UT5 "11950846|15994182" MGI:2429554 RGD:1559807 607146 HGNC:19891 "ENST00000355547.10|NM_001168468.2" +HGNC:11076 NHERF2 NHERF family PDZ scaffold protein 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SIP-1|TKA-1|NHERF-2|E3KARP|OCTS2" "Na(+)/H(+) exchange regulatory cofactor 2|SRY-interacting protein 1|NHE3 kinase A regulatory protein|Tyrosine kinase activator protein 1" SLC9A3R2 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2|solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2|solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2|SLC9A3 regulator 2" "PDZ domain containing|NHERF family PDZ scaffold proteins" "1220|2226" 1999-02-26 2022-10-26 2022-10-26 2023-01-20 9351 ENSG00000065054 OTTHUMG00000176956 uc002coi.3 AF004900 NM_001130012 "CCDS58407|CCDS45383|CCDS45382" Q15599 "9054412|9671706|12649600" MGI:1890662 RGD:620380 606553 471108 HGNC:11076 "ENST00000424542.7|NM_001130012.3" +HGNC:19891 NHERF4 NHERF family PDZ scaffold protein 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "FLJ22756|IKEPP|NaPi-Cap2" "Na/Pi cotransporter C-terminal-associated protein 2|Na(+)/H(+) exchange regulatory cofactor 4|Intestinal and kidney-enriched PDZ protein" "PDZK2|PDZD3" "PDZ domain containing 2|PDZ domain containing 3" "PDZ domain containing|NHERF family PDZ scaffold proteins" "1220|2226" 2003-01-13 2022-10-26 2022-10-26 2023-01-20 79849 ENSG00000172367 OTTHUMG00000166224 uc001pvz.4 AK091966 NM_024791 "CCDS8417|CCDS53719" Q86UT5 "11950846|15994182" MGI:2429554 RGD:1559807 607146 HGNC:19891 "ENST00000355547.10|NM_001168468.2" HGNC:55561 NHIP neuronal hypoxia inducible, placenta associated non-coding RNA RNA, long non-coding Approved 22q13.32 22q13.32 Long non-coding RNAs with non-systematic symbols 1992 2022-02-18 2022-02-18 105373085 ENSG00000286381 NR_183575 35168652 HGNC:7817 NHLH1 nescient helix-loop-helix 1 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "NSCL|NSCL1|bHLHa35" HEN1 nescient helix loop helix 1 Basic helix-loop-helix proteins 420 1992-07-08 2015-11-11 2023-01-20 4807 ENSG00000171786 OTTHUMG00000033121 uc001fwa.3 BC013789 NM_005598 CCDS1204 Q02575 MGI:98481 RGD:1310261 162360 HGNC:7817 "ENST00000302101.6|NM_005598.4" HGNC:7818 NHLH2 nescient helix-loop-helix 2 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "NSCL2|bHLHa34" HEN2 nescient helix loop helix 2 Basic helix-loop-helix proteins 420 1992-07-08 2015-11-11 2023-01-20 4808 ENSG00000177551 OTTHUMG00000011969 uc057jrm.1 NM_005599 CCDS885 Q02577 1528853 MGI:97324 RGD:1308294 162361 HGNC:7818 "ENST00000320238.3|NM_005599.3" @@ -22638,17 +22640,17 @@ HGNC:23582 NHP2P1 NHP2 ribonucleoprotein pseudogene 1 pseudogene pseudogene Appr HGNC:22797 NHP2P2 NHP2 ribonucleoprotein pseudogene 2 pseudogene pseudogene Approved 7p15.2 07p15.2 TCAG_30283 NHP2 ribonucleoprotein homolog (yeast) pseudogene 2 2010-06-17 2012-12-10 2014-11-18 442290 ENSG00000213786 OTTHUMG00000033542 NG_005298 PGOHUM00000233158 HGNC:22797 HGNC:7820 NHS NHS actin remodeling regulator protein-coding gene gene with protein product Approved Xp22.2-p22.13 Xp22.2-p22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) MicroRNA protein coding host genes 1691 1989-06-30 2015-11-18 2023-01-20 4810 ENSG00000188158 OTTHUMG00000022799 uc004cxx.4 NM_198270 "CCDS94562|CCDS48087|CCDS14181" Q6T4R5 20332100 MGI:2684894 RGD:1561818 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NHS 300457 123783 HGNC:7820 "ENST00000676302.1|NM_001291867.2" HGNC:7820 HGNC:40403 NHS-AS1 NHS antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.13 Xp22.13 NHS antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873920 ENSG00000230020 OTTHUMG00000021203 uc064yer.1 NR_046632 NHS-AS1 HGNC:40403 -HGNC:21021 NHSL1 NHS like 1 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "bA43P8.1|KIAA1357" C6orf63 chromosome 6 open reading frame 63 MicroRNA protein coding host genes 1691 2003-05-06 2004-10-07 2015-11-18 2023-01-20 57224 ENSG00000135540 OTTHUMG00000016321 uc011edp.3 AB037778 NM_020464 "CCDS55063|CCDS47487" Q5SYE7 MGI:106390 RGD:1308124 620171 HGNC:21021 "ENST00000343505.10|NM_001144060.2" +HGNC:21021 NHSL1 NHS like 1 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "bA43P8.1|KIAA1357" C6orf63 chromosome 6 open reading frame 63 MicroRNA protein coding host genes 1691 2003-05-06 2004-10-07 2015-11-18 2023-01-20 57224 ENSG00000135540 OTTHUMG00000016321 uc011edp.3 AB037778 NM_020464 "CCDS47487|CCDS55063" Q5SYE7 MGI:106390 RGD:1308124 620171 HGNC:21021 "ENST00000343505.10|NM_001144060.2" HGNC:40947 NHSL1-AS1 NHSL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.1 06q24.1 FLJ46906 Antisense RNAs 1987 2022-01-07 2022-01-07 441172 ENSG00000225177 OTTHUMG00000015677 NR_033896 HGNC:33737 NHSL2 NHS like 2 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2007-12-06 2015-11-18 2023-01-20 340527 ENSG00000204131 OTTHUMG00000021807 uc284rbn.1 NM_001013627 CCDS87759 Q5HYW2 MGI:3645090 RGD:1564117 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NHSL2 301093 HGNC:33737 "ENST00000633930.2|NM_001013627.3" HGNC:16784 NIBAN1 niban apoptosis regulator 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "NIBAN|GIG39" cell growth inhibiting protein 39 "C1orf24|FAM129A" "chromosome 1 open reading frame 24|family with sequence similarity 129 member A" 2001-10-08 2019-04-18 2019-04-18 2023-01-20 116496 ENSG00000135842 OTTHUMG00000035388 uc001gra.5 AF288391 NM_052966 CCDS1364 Q9BZQ8 "15085203|16444351" MGI:2137237 RGD:71088 619294 HGNC:16784 "ENST00000367511.4|NM_052966.4" -HGNC:25282 NIBAN2 niban apoptosis regulator 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "DKFZP434H0820|FLJ13518|FLJ22151|FLJ22298|bA356B19.6|MINERVA" melanoma invasion by ERK "C9orf88|FAM129B" "chromosome 9 open reading frame 88|family with sequence similarity 129 member B" 2004-02-19 2019-04-18 2019-04-18 2023-01-20 64855 ENSG00000136830 OTTHUMG00000020705 uc004brh.5 AF151783 NM_022833 "CCDS35144|CCDS35145" Q96TA1 "19362540|26721396" MGI:2442910 RGD:1307018 614045 HGNC:25282 "ENST00000373312.4|NM_022833.4" -HGNC:24130 NIBAN3 niban apoptosis regulator 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ39802|BCNP1" FAM129C family with sequence similarity 129 member C 2006-11-23 2019-04-18 2019-04-18 2023-01-20 199786 ENSG00000167483 OTTHUMG00000182892 uc060vkd.1 AY254198 NM_173544 "CCDS82317|CCDS82315|CCDS42521|CCDS82314|CCDS12362|CCDS86723" Q86XR2 "12886250|27680505" MGI:3686743 RGD:1566103 609967 HGNC:24130 "ENST00000599164.6|NM_001321827.2" +HGNC:25282 NIBAN2 niban apoptosis regulator 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "DKFZP434H0820|FLJ13518|FLJ22151|FLJ22298|bA356B19.6|MINERVA" melanoma invasion by ERK "C9orf88|FAM129B" "chromosome 9 open reading frame 88|family with sequence similarity 129 member B" 2004-02-19 2019-04-18 2019-04-18 2023-01-20 64855 ENSG00000136830 OTTHUMG00000020705 uc004brh.5 AF151783 NM_022833 "CCDS35145|CCDS35144" Q96TA1 "19362540|26721396" MGI:2442910 RGD:1307018 614045 HGNC:25282 "ENST00000373312.4|NM_022833.4" +HGNC:24130 NIBAN3 niban apoptosis regulator 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ39802|BCNP1" FAM129C family with sequence similarity 129 member C 2006-11-23 2019-04-18 2019-04-18 2023-01-20 199786 ENSG00000167483 OTTHUMG00000182892 uc060vkd.1 AY254198 NM_173544 "CCDS82314|CCDS42521|CCDS86723|CCDS82315|CCDS12362|CCDS82317" Q86XR2 "12886250|27680505" MGI:3686743 RGD:1566103 609967 HGNC:24130 "ENST00000599164.6|NM_001321827.2" HGNC:18317 NICN1 nicolin 1, tubulin polyglutamylase complex subunit protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC12936 nicolin 1 Tubulin polyglutamylase complex subunits 2117 2002-03-13 2021-12-09 2023-01-20 84276 ENSG00000145029 OTTHUMG00000156848 uc003cwz.2 AJ299740 NM_032316 CCDS2798 Q9BSH3 12392556 MGI:1913507 RGD:1589574 611516 HGNC:18317 "ENST00000273598.8|NM_032316.3" HGNC:18322 NICN2P nicolin 2, pseudogene pseudogene pseudogene Approved Xp11.3 Xp11.3 2002-03-13 2020-04-07 171176 ENSG00000237623 OTTHUMG00000021441 NG_005534 PGOHUM00000304591 HGNC:18322 HGNC:7821 NID1 nidogen 1 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 entactin NID nidogen (enactin) 1989-05-25 2005-06-02 2005-06-02 2023-01-20 4811 ENSG00000116962 OTTHUMG00000040071 uc001hxo.4 BC045606 NM_002508 CCDS1608 P14543 "2471408|7557988" MGI:97342 RGD:3178 131390 HGNC:7821 "ENST00000264187.7|NM_002508.3" HGNC:13389 NID2 nidogen 2 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 osteonidogen 2001-06-25 2015-11-23 2023-01-20 22795 ENSG00000087303 OTTHUMG00000140298 uc001wzo.4 AB009799 NM_007361 CCDS9706 Q14112 9733643 MGI:1298229 RGD:1311685 605399 HGNC:13389 "ENST00000216286.10|NM_007361.4" -HGNC:13390 NIF3L1 NGG1 interacting factor 3 like 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CALS-7|MDS015" ALS2CR1 "NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1|NIF3 NGG1 interacting factor 3-like 1 (S. pombe)|NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)|NIF3 NGG1 interacting factor 3-like 1" 2001-01-02 2015-11-18 2023-01-20 60491 ENSG00000196290 OTTHUMG00000154588 uc061rgx.1 AB038949 NM_021824 "CCDS42797|CCDS46485|CCDS46486" Q9GZT8 "11124544|11161814|12522100" MGI:1929485 RGD:1310329 605778 HGNC:13390 "ENST00000409020.6|NM_001369441.2" +HGNC:13390 NIF3L1 NGG1 interacting factor 3 like 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CALS-7|MDS015" ALS2CR1 "NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1|NIF3 NGG1 interacting factor 3-like 1 (S. pombe)|NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)|NIF3 NGG1 interacting factor 3-like 1" 2001-01-02 2015-11-18 2023-01-20 60491 ENSG00000196290 OTTHUMG00000154588 uc061rgx.1 AB038949 NM_021824 "CCDS42797|CCDS46486|CCDS46485" Q9GZT8 "11124544|11161814|12522100" MGI:1929485 RGD:1310329 605778 HGNC:13390 "ENST00000409020.6|NM_001369441.2" HGNC:17838 NIFK nucleolar protein interacting with the FHA domain of MKI67 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "Nopp34|hNIFK" nucleolar protein interacting with the FHA domain of pKi-67 MKI67IP MKI67 (FHA domain) interacting nucleolar phosphoprotein RNA binding motif containing 725 2002-05-03 2013-10-10 2013-10-10 2023-01-20 84365 ENSG00000155438 OTTHUMG00000131442 AB044971 NM_032390 CCDS2135 Q9BYG3 "11342549|16244663|25826659" MGI:1915199 RGD:708462 611970 HGNC:17838 "ENST00000285814.9|NM_032390.5" HGNC:27385 NIFK-AS1 NIFK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.3 02q14.3 Antisense RNAs 1987 2013-10-10 2014-11-19 254128 ENSG00000236859 OTTHUMG00000153332 NR_037856 12477932 NIFK-AS1 HGNC:27385 HGNC:44949 NIFKP1 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 1 pseudogene pseudogene Approved 10p11.23 10p11.23 MKI67IPP1 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 1 2012-12-19 2013-10-10 2013-10-10 2013-10-10 401825 ENSG00000214434 OTTHUMG00000017891 NG_009461 PGOHUM00000238710 HGNC:44949 @@ -22662,16 +22664,16 @@ HGNC:44956 NIFKP8 nucleolar protein interacting with the FHA domain of MKI67 pse HGNC:44957 NIFKP9 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 9 pseudogene pseudogene Approved 2q14.3 02q14.3 MKI67IPP9 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 9 2012-12-20 2013-10-10 2013-10-10 2013-10-10 106480805 ENSG00000237630 OTTHUMG00000153399 NG_045146 PGOHUM00000240897 HGNC:44957 HGNC:53024 NIHCOLE ncRNA involved in NHEJ oncogenic ligation efficiency non-coding RNA RNA, long non-coding Approved 5q21.2 05q21.2 RP11-138J23.1 Noncoding RNA induced in Hepatocellular Carcinoma with an Oncogenic role in Ligation Efficiency LINC02163 long intergenic non-protein coding RNA 2163 Long non-coding RNAs with non-systematic symbols 1992 2017-01-06 2022-04-13 2022-04-13 2022-04-13 107986389 ENSG00000251026 OTTHUMG00000162778 XR_001742526 34321241 HGNC:53024 HGNC:28646 NIM1K NIM1 serine/threonine protein kinase protein-coding gene gene with protein product Approved 5p12 05p12 "MGC42105|NIM1" 2014-01-07 2023-01-20 167359 ENSG00000177453 OTTHUMG00000131147 BC036422 NM_153361 CCDS3943 Q8IY84 15733851 MGI:2442399 RGD:1308116 objectId:2291 HGNC:28646 "ENST00000326035.6|NM_153361.4" -HGNC:14906 NIN ninein protein-coding gene gene with protein product Approved 14q22.1 14q22.1 ninein (GSK3B interacting protein) EF-hand domain containing 863 2001-03-15 2015-11-23 2023-03-15 51199 ENSG00000100503 OTTHUMG00000029569 uc001wym.4 AF212162 NM_182946 "CCDS32079|CCDS91876|CCDS32078|CCDS45103" Q8N4C6 "11004522|11162463" MGI:105108 RGD:1306492 NIN 608684 325022 HGNC:14906 "ENST00000530997.7|NM_020921.4" HGNC:14906 +HGNC:14906 NIN ninein protein-coding gene gene with protein product Approved 14q22.1 14q22.1 ninein (GSK3B interacting protein) EF-hand domain containing 863 2001-03-15 2015-11-23 2023-03-15 51199 ENSG00000100503 OTTHUMG00000029569 uc001wym.4 AF212162 NM_182946 "CCDS45103|CCDS91876|CCDS32078|CCDS32079" Q8N4C6 "11004522|11162463" MGI:105108 RGD:1306492 NIN 608684 325022 HGNC:14906 "ENST00000530997.7|NM_020921.4" HGNC:14906 HGNC:7824 NINJ1 ninjurin 1 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 NIN1 nerve injury-induced protein-1 1997-07-07 2023-01-20 4814 ENSG00000131669 OTTHUMG00000020242 uc004atg.4 U91512 NM_004148 CCDS6703 Q92982 8780658 MGI:1196617 RGD:3179 602062 HGNC:7824 "ENST00000375446.5|NM_004148.4" HGNC:7825 NINJ2 ninjurin 2 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 1997-07-07 2023-01-20 4815 ENSG00000171840 OTTHUMG00000090311 uc001qil.4 AF205633 NM_016533 "CCDS8505|CCDS73418|CCDS76499" Q9NZG7 10627596 MGI:1352751 RGD:620552 607297 HGNC:7825 "ENST00000305108.10|NM_016533.6" HGNC:40405 NINJ2-AS1 NINJ2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Antisense RNAs 1987 2019-08-16 2019-08-16 100049716 ENSG00000177406 OTTHUMG00000168059 NR_122124 HGNC:40405 HGNC:29163 NINL ninein like protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "KIAA0980|NLP" ninein-like protein EF-hand domain containing 863 2009-05-01 2015-11-23 2023-01-20 22981 ENSG00000101004 OTTHUMG00000032127 uc002wux.3 NM_025176 "CCDS82605|CCDS33452" Q9Y2I6 "10231032|26485645" MGI:1925427 RGD:1306152 609580 HGNC:29163 "ENST00000278886.11|NM_025176.6" -HGNC:24328 NIP7 nucleolar pre-rRNA processing protein NIP7 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CGI-37|FLJ10296|HSPC031|KD93" nuclear import 7 homolog (S. cerevisiae) Ribosomal biogenesis factors 1729 2005-12-01 2019-01-21 2023-01-20 51388 ENSG00000132603 OTTHUMG00000137568 uc002exa.4 AB112439 NM_016101 "CCDS56003|CCDS10877" Q9Y221 "14660641|22195017|20798176" MGI:1913414 RGD:620069 619204 HGNC:24328 "ENST00000254940.10|NM_016101.5" +HGNC:24328 NIP7 nucleolar pre-rRNA processing protein NIP7 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CGI-37|FLJ10296|HSPC031|KD93" nuclear import 7 homolog (S. cerevisiae) Ribosomal biogenesis factors 1729 2005-12-01 2019-01-21 2023-01-20 51388 ENSG00000132603 OTTHUMG00000137568 uc002exa.4 AB112439 NM_016101 "CCDS10877|CCDS56003" Q9Y221 "14660641|22195017|20798176" MGI:1913414 RGD:620069 619204 HGNC:24328 "ENST00000254940.10|NM_016101.5" HGNC:45180 NIP7P1 NIP7 pseudogene 1 pseudogene pseudogene Approved 10q23.33 10q23.33 2013-03-04 2019-01-21 2019-01-21 389997 ENSG00000232805 OTTHUMG00000018769 NG_023276 PGOHUM00000238587 HGNC:45180 HGNC:45181 NIP7P2 NIP7 pseudogene 2 pseudogene pseudogene Approved 3q22.1 03q22.1 2013-03-04 2019-01-21 2019-01-21 646392 ENSG00000213264 OTTHUMG00000159673 NG_022272 PGOHUM00000238193 HGNC:45181 HGNC:45182 NIP7P3 NIP7 pseudogene 3 pseudogene pseudogene Approved 6q22.1 06q22.1 2013-03-04 2019-01-21 2019-01-21 100421245 ENSG00000218428 OTTHUMG00000015425 NG_025858 PGOHUM00000243337 HGNC:45182 -HGNC:17043 NIPA1 NIPA magnesium transporter 1 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "MGC35570|SLC57A1" SPG6 "spastic paraplegia 6 (autosomal dominant)|non imprinted in Prader-Willi/Angelman syndrome 1" Solute carrier family 57, NIPA-like magnesium transporters 2206 2004-01-23 2018-02-23 2023-03-14 123606 ENSG00000170113 OTTHUMG00000129099 uc001yvc.4 BK001020 NM_144599 "CCDS73692|CCDS73691" Q7RTP0 14508710 MGI:2442058 RGD:1305401 608145 SLC57A1 123785 objectId:3033 HGNC:17043 "ENST00000337435.9|NM_144599.5" HGNC:17043 +HGNC:17043 NIPA1 NIPA magnesium transporter 1 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "MGC35570|SLC57A1" SPG6 "spastic paraplegia 6 (autosomal dominant)|non imprinted in Prader-Willi/Angelman syndrome 1" Solute carrier family 57, NIPA-like magnesium transporters 2206 2004-01-23 2018-02-23 2023-03-14 123606 ENSG00000170113 OTTHUMG00000129099 uc001yvc.4 BK001020 NM_144599 "CCDS73691|CCDS73692" Q7RTP0 14508710 MGI:2442058 RGD:1305401 608145 SLC57A1 123785 objectId:3033 HGNC:17043 "ENST00000337435.9|NM_144599.5" HGNC:17043 HGNC:17044 NIPA2 NIPA magnesium transporter 2 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 SLC57A2 non imprinted in Prader-Willi/Angelman syndrome 2 Solute carrier family 57, NIPA-like magnesium transporters 2206 2004-09-30 2018-02-23 2023-03-14 81614 ENSG00000140157 OTTHUMG00000129101 uc001yuy.3 AY732242 NM_030922 "CCDS73693|CCDS73694" Q8N8Q9 14508708 MGI:1913918 RGD:1306051 608146 SLC57A2 470780 objectId:3034 HGNC:17044 "ENST00000337451.8|NM_030922.7" HGNC:42041 NIPA2P1 NIPA2 pseudogene 1 pseudogene pseudogene Approved 7q21.13 07q21.13 "non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1|NIPA magnesium transporter 2 pseudogene 1" 2011-06-01 2019-08-28 2019-08-28 100132321 ENSG00000225843 OTTHUMG00000156061 NG_021278 PGOHUM00000232915 HGNC:42041 HGNC:42042 NIPA2P2 NIPA2 pseudogene 2 pseudogene pseudogene Approved 3p12.3 03p12.3 "non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2|NIPA magnesium transporter 2 pseudogene 2" 2011-06-01 2019-08-28 2019-08-28 100130204 ENSG00000241022 OTTHUMG00000158821 NG_021276 PGOHUM00000238069 HGNC:42042 @@ -22679,36 +22681,36 @@ HGNC:42043 NIPA2P3 NIPA2 pseudogene 3 pseudogene pseudogene Approved 21q21.1 21q HGNC:42044 NIPA2P4 NIPA2 pseudogene 4 pseudogene pseudogene Approved 8q21.13 08q21.13 "non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4|NIPA magnesium transporter 2 pseudogene 4" 2011-06-01 2019-08-28 2019-08-28 100421776 ENSG00000254151 OTTHUMG00000164769 NG_026045 PGOHUM00000249407 HGNC:42044 HGNC:42045 NIPA2P5 NIPA2 pseudogene 5 pseudogene pseudogene Approved 13q31.1 13q31.1 "non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5|NIPA magnesium transporter 2 pseudogene 5" 2011-06-01 2019-08-28 2019-08-28 100874488 ENSG00000236277 OTTHUMG00000017127 NG_032396 PGOHUM00000248644 HGNC:42045 HGNC:27194 NIPAL1 NIPA like domain containing 1 protein-coding gene gene with protein product Approved 4p12 04p12 "DKFZp686A06115|SLC57A3|NIPA3" NPAL1 Solute carrier family 57, NIPA-like magnesium transporters 2206 2005-07-20 2009-03-24 2016-01-18 2023-03-14 152519 ENSG00000163293 OTTHUMG00000128622 uc003gxw.4 BC067881 NM_207330 CCDS3479 Q6NVV3 MGI:1917951 RGD:1310092 620340 SLC57A3 objectId:3035 HGNC:27194 "ENST00000295461.10|NM_207330.3" -HGNC:25854 NIPAL2 NIPA like domain containing 2 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "FLJ13955|SLC57A4" NPAL2 Solute carrier family 57, NIPA-like magnesium transporters 2206 2005-07-20 2009-03-24 2016-01-18 2023-03-14 79815 ENSG00000104361 OTTHUMG00000164668 uc003yim.2 AK024017 NM_024759 "CCDS83310|CCDS6278" Q9H841 14702039 MGI:1924488 RGD:1564315 SLC57A4 objectId:3036 HGNC:25854 "ENST00000430223.7|NM_001321635.2" +HGNC:25854 NIPAL2 NIPA like domain containing 2 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "FLJ13955|SLC57A4" NPAL2 Solute carrier family 57, NIPA-like magnesium transporters 2206 2005-07-20 2009-03-24 2016-01-18 2023-03-14 79815 ENSG00000104361 OTTHUMG00000164668 uc003yim.2 AK024017 NM_024759 "CCDS6278|CCDS83310" Q9H841 14702039 MGI:1924488 RGD:1564315 SLC57A4 objectId:3036 HGNC:25854 "ENST00000430223.7|NM_001321635.2" HGNC:56271 NIPAL2-AS1 NIPAL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q22.2 08q22.2 lnc-POP1-1 Antisense RNAs 1987 2022-07-21 2022-07-21 105375660 XR_928443 34111560 -HGNC:25233 NIPAL3 NIPA like domain containing 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "DJ462O23.2|SLC57A5" NPAL3 Solute carrier family 57, NIPA-like magnesium transporters 2206 2005-07-20 2009-03-24 2016-01-18 2023-03-14 57185 ENSG00000001461 OTTHUMG00000003299 uc001bjh.4 BX640883 NM_020448 "CCDS81280|CCDS30631|CCDS81282|CCDS81281" Q6P499 "8619474|9110174" MGI:1921802 RGD:1563439 620034 SLC57A5 objectId:3037 HGNC:25233 "ENST00000374399.9|NM_020448.5" +HGNC:25233 NIPAL3 NIPA like domain containing 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "DJ462O23.2|SLC57A5" NPAL3 Solute carrier family 57, NIPA-like magnesium transporters 2206 2005-07-20 2009-03-24 2016-01-18 2023-03-14 57185 ENSG00000001461 OTTHUMG00000003299 uc001bjh.4 BX640883 NM_020448 "CCDS81282|CCDS30631|CCDS81280|CCDS81281" Q6P499 "8619474|9110174" MGI:1921802 RGD:1563439 620034 SLC57A5 objectId:3037 HGNC:25233 "ENST00000374399.9|NM_020448.5" HGNC:28018 NIPAL4 NIPA like domain containing 4 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "ICHYN|SLC57A6|NIPA4" ichthyin NIPA-like 4 Solute carrier family 57, NIPA-like magnesium transporters 2206 2009-03-24 2016-01-18 2023-03-14 348938 ENSG00000172548 OTTHUMG00000163497 uc003lwx.5 AK026158 NM_001099287 CCDS47328 Q0D2K0 "8619474|9110174|15317751" MGI:2444671 RGD:1309452 609383 SLC57A6 223546 objectId:3038 HGNC:28018 "ENST00000311946.8|NM_001099287.2" HGNC:28018 HGNC:55542 NIPAL4-DT NIPAL4 divergent transcript non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 Divergent transcripts 1990 2021-03-24 2021-03-24 102724404 ENSG00000251405 NR_136204 HGNC:28862 NIPBL NIPBL cohesin loading factor protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "IDN3|DKFZp434L1319|FLJ11203|FLJ12597|FLJ13354|FLJ13648|Scc2" sister chromatid cohesion 2 homolog (yeast) "Nipped-B homolog (Drosophila)|NIPBL, cohesin loading factor" Armadillo like helical domain containing 1492 2004-07-21 2019-01-25 2023-01-20 25836 ENSG00000164190 OTTHUMG00000090795 uc003jkl.5 AB019494 NM_015384 "CCDS47198|CCDS3920" Q6KC79 "15146186|15146185" MGI:1913976 RGD:1306393 "LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=NIPBL|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NIPBL" 608667 123789 HGNC:28862 "ENST00000282516.13|NM_133433.4" HGNC:28862 HGNC:51293 NIPBL-DT NIPBL divergent transcript non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 NIPBL-AS NIPBL-AS1 NIPBL antisense RNA 1 (head to head) Divergent transcripts 1990 2014-09-19 2018-03-23 2018-03-23 2018-03-28 646719 ENSG00000285967 NR_046262 "24007600|29261648" NIPBL-AS1 HGNC:51293 HGNC:7827 NIPSNAP1 nipsnap homolog 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1 "NIPSNAP, C. elegans, homolog 1|nipsnap homolog 1 (C. elegans)" 1998-09-30 2016-12-14 2023-01-20 8508 ENSG00000184117 OTTHUMG00000151294 uc003afx.5 AJ001258 NM_001202502 CCDS13860 Q9BPW8 9661659 MGI:1278344 RGD:1310419 603249 HGNC:7827 "ENST00000216121.12|NM_003634.4" -HGNC:4179 NIPSNAP2 nipsnap homolog 2 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 GBAS glioblastoma amplified sequence 1997-10-30 2017-03-16 2017-03-16 2023-01-20 2631 ENSG00000146729 OTTHUMG00000022932 uc003tre.3 AF029786 NM_001483 "CCDS56488|CCDS5521" O75323 "9615231|9661659|20888800" MGI:1278343 RGD:1566421 603004 HGNC:4179 "ENST00000322090.8|NM_001483.3" +HGNC:4179 NIPSNAP2 nipsnap homolog 2 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 GBAS glioblastoma amplified sequence 1997-10-30 2017-03-16 2017-03-16 2023-01-20 2631 ENSG00000146729 OTTHUMG00000022932 uc003tre.3 AF029786 NM_001483 "CCDS5521|CCDS56488" O75323 "9615231|9661659|20888800" MGI:1278343 RGD:1566421 603004 HGNC:4179 "ENST00000322090.8|NM_001483.3" HGNC:23619 NIPSNAP3A nipsnap homolog 3A protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "DKFZp564D177|FLJ13953|HSPC299|MGC14553|NIPSNAP4|TassC" nipsnap homolog 3A (C. elegans) 2003-11-27 2016-04-19 2023-01-20 25934 ENSG00000136783 OTTHUMG00000020413 uc004bch.1 BC005935 NM_015469 CCDS6760 Q9UFN0 15177564 "MGI:1913786|MGI:1920648" RGD:1359688 608871 HGNC:23619 "ENST00000374767.5|NM_015469.3" HGNC:23641 NIPSNAP3B nipsnap homolog 3B protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "FLJ11275|NIPSNAP3|SNAP1" nipsnap homolog 3B (C. elegans) 2003-11-27 2016-04-19 2023-01-20 55335 ENSG00000165028 OTTHUMG00000020414 uc004bci.3 BC017914 NM_018376 CCDS6761 Q9BS92 12477932 "MGI:1913786|MGI:1920648" 608872 HGNC:23641 "ENST00000374762.4|NM_018376.4" -HGNC:18006 NISCH nischarin protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "KIAA0975|I-1|IRAS" "imidazoline receptor candidate|I-1 receptor candidate protein|imidazoline receptor antisera selected" 2002-01-16 2023-01-20 11188 ENSG00000010322 OTTHUMG00000158571 uc032rnx.2 AF082516 NM_007184 "CCDS63651|CCDS63652|CCDS33767" Q9Y2I1 "11912194|10882231" MGI:1928323 RGD:1306950 615507 HGNC:18006 "ENST00000345716.9|NM_007184.4" -HGNC:7828 NIT1 nitrilase 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 1998-04-27 2023-01-20 4817 ENSG00000158793 OTTHUMG00000031473 uc001fxv.3 AF069984 NM_001185092 "CCDS53401|CCDS53402|CCDS53403|CCDS1218" Q86X76 9671749 MGI:1350916 RGD:727821 604618 HGNC:7828 "ENST00000368009.7|NM_005600.3" +HGNC:18006 NISCH nischarin protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "KIAA0975|I-1|IRAS" "imidazoline receptor candidate|I-1 receptor candidate protein|imidazoline receptor antisera selected" 2002-01-16 2023-01-20 11188 ENSG00000010322 OTTHUMG00000158571 uc032rnx.2 AF082516 NM_007184 "CCDS33767|CCDS63652|CCDS63651" Q9Y2I1 "11912194|10882231" MGI:1928323 RGD:1306950 615507 HGNC:18006 "ENST00000345716.9|NM_007184.4" +HGNC:7828 NIT1 nitrilase 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 1998-04-27 2023-01-20 4817 ENSG00000158793 OTTHUMG00000031473 uc001fxv.3 AF069984 NM_001185092 "CCDS53401|CCDS53402|CCDS1218|CCDS53403" Q86X76 9671749 MGI:1350916 RGD:727821 604618 HGNC:7828 "ENST00000368009.7|NM_005600.3" HGNC:29878 NIT2 nitrilase family member 2 protein-coding gene gene with protein product Approved 3q12.2 03q12.2 omega-amidase NIT2 nitrilase family, member 2 2004-07-12 2015-11-18 2023-01-20 56954 ENSG00000114021 OTTHUMG00000159066 uc003dtv.4 AF284574 NM_020202 CCDS33806 Q9NQR4 10959838 MGI:1261838 RGD:1310494 616769 HGNC:29878 "ENST00000394140.9|NM_020202.5" HGNC:25743 NKAIN1 sodium/potassium transporting ATPase interacting 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 FLJ12650 sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 FAM77C "family with sequence similarity 77, member C|Na+/K+ transporting ATPase interacting 1|Sodium/potassium transporting ATPase interacting 1" Na+/K+ transporting ATPase interacting 659 2005-09-02 2007-10-04 2017-03-23 2023-01-20 79570 ENSG00000084628 OTTHUMG00000003788 uc010ogd.3 AK022712 NM_024522 CCDS339 Q4KMZ8 17606467 MGI:1914399 RGD:1561205 612871 HGNC:25743 "ENST00000373736.7|NM_024522.3" HGNC:38593 NKAIN1P1 NKAIN1 pseudogene 1 pseudogene pseudogene Approved 1q21.1 01q21.1 "Na+/K+ transporting ATPase interacting 1 pseudogene 1|sodium/potassium transporting ATPase interacting 1 pseudogene 1" 2010-10-25 2019-12-18 2019-12-18 100462647 ENSG00000242943 OTTHUMG00000040703 NG_021262 PGOHUM00000244253 HGNC:38593 HGNC:54726 NKAIN1P2 NKAIN1 pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-18 2019-12-18 100462648 ENSG00000271627 NG_021263 HGNC:16443 NKAIN2 sodium/potassium transporting ATPase interacting 2 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 FAM77B TCBA1 "T-cell lymphoma breakpoint associated target 1|Na+/K+ transporting ATPase interacting 2" Na+/K+ transporting ATPase interacting 659 2001-08-31 2007-10-04 2017-03-23 2023-01-20 154215 ENSG00000188580 OTTHUMG00000015500 uc003pzo.4 AB070452 NM_001040214 CCDS34526 Q5VXU1 17606467 MGI:1923447 RGD:7740967 609758 HGNC:16443 "ENST00000368417.6|NM_001040214.3" -HGNC:26829 NKAIN3 sodium/potassium transporting ATPase interacting 3 protein-coding gene gene with protein product Approved 8q12.3 08q12.3 FLJ39630 "FAM77D|NKAIN3-IT1" "family with sequence similarity 77, member D|Na+/K+ transporting ATPase interacting 3|NKAIN3 intronic transcript" Na+/K+ transporting ATPase interacting 659 2005-09-02 2007-10-04 2017-03-23 2023-03-15 286183 ENSG00000185942 OTTHUMG00000164361 uc010lyq.2 AK096949 NM_001304533 "CCDS94295|CCDS94296" Q8N8D7 17606467 MGI:2444830 RGD:1591051 612872 HGNC:26829 "ENST00000623646.3|NM_001304533.3" +HGNC:26829 NKAIN3 sodium/potassium transporting ATPase interacting 3 protein-coding gene gene with protein product Approved 8q12.3 08q12.3 FLJ39630 "FAM77D|NKAIN3-IT1" "family with sequence similarity 77, member D|Na+/K+ transporting ATPase interacting 3|NKAIN3 intronic transcript" Na+/K+ transporting ATPase interacting 659 2005-09-02 2007-10-04 2017-03-23 2023-03-15 286183 ENSG00000185942 OTTHUMG00000164361 uc010lyq.2 AK096949 NM_001304533 "CCDS94296|CCDS94295" Q8N8D7 17606467 MGI:2444830 RGD:1591051 612872 HGNC:26829 "ENST00000623646.3|NM_001304533.3" HGNC:16191 NKAIN4 sodium/potassium transporting ATPase interacting 4 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "bA261N11.2|FAM77A" C20orf58 "chromosome 20 open reading frame 58|Na+/K+ transporting ATPase interacting 4" Na+/K+ transporting ATPase interacting 659 2001-07-17 2007-10-04 2017-03-23 2023-01-20 128414 ENSG00000101198 OTTHUMG00000032959 uc002yek.3 BC041812 NM_152864 "CCDS13514|CCDS86968|CCDS86967" Q8IVV8 17606467 MGI:1915372 RGD:1305809 612873 HGNC:16191 "ENST00000370316.8|NM_152864.4" HGNC:29873 NKAP NFKB activating protein protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ22626 NF kappaB activating protein 2007-08-16 2023-01-20 79576 ENSG00000101882 OTTHUMG00000022284 uc004esh.4 BC012770 NM_024528 CCDS14592 Q8N5F7 14550261 MGI:1914300 RGD:1565955 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NKAP 300766 HGNC:29873 "ENST00000371410.5|NM_024528.4" HGNC:29873 -HGNC:25569 NKAPD1 NKAP domain containing 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 FLJ10726 C11orf57 chromosome 11 open reading frame 57 2006-03-08 2017-08-18 2017-08-18 2023-01-20 55216 ENSG00000150776 OTTHUMG00000150213 uc001pmt.5 BX538107 NM_018195 "CCDS41715|CCDS73383|CCDS8356" Q6ZUT1 12477932 MGI:2143205 RGD:2293296 HGNC:25569 "ENST00000393047.8|NM_018195.4" +HGNC:25569 NKAPD1 NKAP domain containing 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 FLJ10726 C11orf57 chromosome 11 open reading frame 57 2006-03-08 2017-08-18 2017-08-18 2023-01-20 55216 ENSG00000150776 OTTHUMG00000150213 uc001pmt.5 BX538107 NM_018195 "CCDS8356|CCDS41715|CCDS73383" Q6ZUT1 12477932 MGI:2143205 RGD:2293296 HGNC:25569 "ENST00000393047.8|NM_018195.4" HGNC:21584 NKAPL NFKB activating protein like protein-coding gene gene with protein product Approved 6p22.1 06p22.1 bA424I5.1 C6orf194 "chromosome 6 open reading frame 194|NFKB activating protein-like" 2003-06-25 2007-08-16 2015-11-23 2023-01-20 222698 ENSG00000189134 OTTHUMG00000014517 uc003nkt.5 BC038240 NM_001007531 CCDS34353 Q5M9Q1 MGI:1913957 RGD:1311667 HGNC:21584 "ENST00000343684.4|NM_001007531.3" HGNC:26706 NKAPP1 NFKB activating protein pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 FLJ36576 CXorf42 chromosome X open reading frame 42 2004-09-09 2010-07-20 2010-07-20 2023-03-15 158801 ENSG00000233382 OTTHUMG00000022295 AK093895 NR_027131 Q8N9T2 HGNC:26706 HGNC:17045 NKD1 NKD inhibitor of WNT signaling pathway 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "naked cuticle homolog 1 (Drosophila)|naked cuticle homolog 1|NKD1, WNT signaling pathway inhibitor" EF-hand domain containing 863 2001-10-19 2019-01-25 2023-01-20 85407 ENSG00000140807 OTTHUMG00000133169 uc002egg.3 AF358135 NM_033119 CCDS10743 Q969G9 "11356022|25904337" MGI:2135954 RGD:1308491 607851 HGNC:17045 "ENST00000268459.6|NM_033119.5" -HGNC:17046 NKD2 NKD inhibitor of WNT signaling pathway 2 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 Naked2 "naked cuticle-2|Dvl-binding protein NKD2" "naked cuticle homolog 2 (Drosophila)|naked cuticle homolog 2|NKD2, WNT signaling pathway inhibitor" EF-hand domain containing 863 2001-10-19 2019-01-25 2023-01-20 85409 ENSG00000145506 OTTHUMG00000090348 uc003jbt.3 AF358137 NM_033120 "CCDS3859|CCDS59486" Q969F2 "11356022|11604995" MGI:1919543 RGD:1311459 607852 HGNC:17046 "ENST00000296849.10|NM_033120.4" -HGNC:7830 NKG7 natural killer cell granule protein 7 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "GIG1|GMP-17" granule membrane protein 17 natural killer cell group 7 sequence 1993-12-15 2014-03-07 2023-01-20 4818 ENSG00000105374 OTTHUMG00000182898 uc002pwj.4 NM_005601 "CCDS86796|CCDS12830" Q16617 8458737 MGI:1931250 RGD:621523 606008 HGNC:7830 "ENST00000221978.10|NM_005601.4" +HGNC:17046 NKD2 NKD inhibitor of WNT signaling pathway 2 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 Naked2 "naked cuticle-2|Dvl-binding protein NKD2" "naked cuticle homolog 2 (Drosophila)|naked cuticle homolog 2|NKD2, WNT signaling pathway inhibitor" EF-hand domain containing 863 2001-10-19 2019-01-25 2023-01-20 85409 ENSG00000145506 OTTHUMG00000090348 uc003jbt.3 AF358137 NM_033120 "CCDS59486|CCDS3859" Q969F2 "11356022|11604995" MGI:1919543 RGD:1311459 607852 HGNC:17046 "ENST00000296849.10|NM_033120.4" +HGNC:7830 NKG7 natural killer cell granule protein 7 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "GIG1|GMP-17" granule membrane protein 17 natural killer cell group 7 sequence 1993-12-15 2014-03-07 2023-01-20 4818 ENSG00000105374 OTTHUMG00000182898 uc002pwj.4 NM_005601 "CCDS12830|CCDS86796" Q16617 8458737 MGI:1931250 RGD:621523 606008 HGNC:7830 "ENST00000221978.10|NM_005601.4" HGNC:51599 NKILA NF-kappaB interacting lncRNA non-coding RNA RNA, long non-coding Approved 20q13.31 20q13.31 NF-kappaB interacting long non-coding RNA Long non-coding RNAs with non-systematic symbols 1992 2015-03-13 2016-12-09 2017-02-09 105416157 ENSG00000278709 OTTHUMG00000186958 AK056098 NR_131157 "25759022|26069731|28123845" NKILA HGNC:51599 HGNC:17899 NKIRAS1 NFKB inhibitor interacting Ras like 1 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "KBRAS1|kappaB-Ras1" NFKB inhibitor interacting Ras-like protein 1 RAS type GTPase family 389 2004-03-31 2016-05-04 2023-01-20 28512 ENSG00000197885 OTTHUMG00000155605 uc003cck.4 AF229839 NM_020345 CCDS33717 Q9NYS0 10657303 MGI:1916971 RGD:1308560 604496 HGNC:17899 "ENST00000425478.7|NM_020345.4" -HGNC:17898 NKIRAS2 NFKB inhibitor interacting Ras like 2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KBRAS2|DKFZP434N1526|kappaB-Ras2" "NFKB inhibitor interacting Ras-like protein 2|NFKB inhibitor interacting Ras-like 2" RAS type GTPase family 389 2004-03-31 2016-04-01 2023-01-20 28511 ENSG00000168256 OTTHUMG00000133503 uc002hyq.4 AF229840 NM_017595 "CCDS11415|CCDS45679|CCDS45680" Q9NYR9 10657303 MGI:1919216 RGD:1307363 604497 HGNC:17898 "ENST00000393885.9|NM_017595.6" +HGNC:17898 NKIRAS2 NFKB inhibitor interacting Ras like 2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KBRAS2|DKFZP434N1526|kappaB-Ras2" "NFKB inhibitor interacting Ras-like protein 2|NFKB inhibitor interacting Ras-like 2" RAS type GTPase family 389 2004-03-31 2016-04-01 2023-01-20 28511 ENSG00000168256 OTTHUMG00000133503 uc002hyq.4 AF229840 NM_017595 "CCDS11415|CCDS45680|CCDS45679" Q9NYR9 10657303 MGI:1919216 RGD:1307363 604497 HGNC:17898 "ENST00000393885.9|NM_017595.6" HGNC:24739 NKPD1 NTPase KAP family P-loop domain containing 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ33600 NTPase, KAP family P-loop domain containing 1 2004-06-04 2012-07-02 2017-01-23 2023-03-15 284353 ENSG00000179846 OTTHUMG00000160521 uc010xxi.2 AK090919 NM_198478 Q17RQ9 14702039 MGI:1916797 RGD:1591760 HGNC:24739 "ENST00000686631.1|NM_198478.4" HGNC:19374 NKRF NFKB repressing factor protein-coding gene gene with protein product Approved Xq24 Xq24 "ITBA4|NRF" NF-kappaB repressing factor G-patch domain containing 579 2004-11-01 2008-03-26 2023-03-15 55922 ENSG00000186416 OTTHUMG00000022277 uc004err.4 AJ011812 NM_017544 O15226 10562553 MGI:1924536 RGD:6500424 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NKRF 300440 HGNC:19374 HGNC:7833 NKTR natural killer cell triggering receptor protein-coding gene gene with protein product Approved 3p22.1 03p22.1 p104 "NK-tumor recognition protein|natural-killer cells cyclophilin-related protein|NK-TR protein" natural killer-tumor recognition sequence Cyclophilin peptidylprolyl isomerases 909 1993-03-17 2014-01-20 2023-01-20 4820 ENSG00000114857 OTTHUMG00000133037 uc003clo.4 NM_005385 CCDS2702 P30414 "8314596|8144875" MGI:97346 RGD:2321593 161565 HGNC:7833 "ENST00000232978.13|NM_005385.4" @@ -22728,36 +22730,36 @@ HGNC:951 NKX3-2 NK3 homeobox 2 protein-coding gene gene with protein product App HGNC:7839 NKX6-1 NK6 homeobox 1 protein-coding gene gene with protein product Approved 4q21.23 04q21.23 Nkx6.1 NKX6A "NK homeobox (Drosophila), family 6, A|NK6 transcription factor related, locus 1 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 1996-10-26 2002-10-04 2007-07-09 2023-01-20 4825 ENSG00000163623 OTTHUMG00000130426 uc003hpa.2 AH007313 NM_006168 CCDS3607 P78426 9119408 MGI:1206039 RGD:69318 602563 8540 HGNC:7839 "ENST00000295886.5|NM_006168.3" HGNC:19321 NKX6-2 NK6 homeobox 2 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "NKX6B|GTX|NKX6.1" NK6 transcription factor related, locus 2 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2002-10-03 2007-07-09 2023-01-20 84504 ENSG00000148826 OTTHUMG00000019294 uc001llr.3 AF184215 NM_177400 CCDS7670 Q9C056 11210186 MGI:1352738 RGD:1307280 605955 8541 HGNC:19321 "ENST00000368592.8|NM_177400.3" HGNC:19321 HGNC:26328 NKX6-3 NK6 homeobox 3 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 FLJ25169 NK6 transcription factor related, locus 3 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2006-06-29 2007-07-09 2023-01-20 157848 ENSG00000165066 OTTHUMG00000164083 uc064mig.1 AK057898 NM_152568 "CCDS6118|CCDS94289" A6NJ46 16326147 MGI:1921811 RGD:1597780 610772 8474 HGNC:26328 "ENST00000518699.4|NM_001364841.2" -HGNC:19889 NLE1 notchless homolog 1 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ10458 Notchless gene homolog, (Drosophila) NLE notchless homolog (Drosophila) WD repeat domain containing 362 2005-05-24 2005-08-09 2016-05-04 2023-01-20 54475 ENSG00000073536 OTTHUMG00000132928 uc002hiy.3 NM_018096 "CCDS11291|CCDS45647" Q9NVX2 MGI:2429770 RGD:1308301 HGNC:19889 "ENST00000442241.9|NM_018096.5" -HGNC:14291 NLGN1 neuroligin 1 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 KIAA1070 Neuroligins 1583 2001-01-02 2023-01-20 22871 ENSG00000169760 OTTHUMG00000157005 uc003fio.3 AB028993 NM_014932 "CCDS93427|CCDS3222" Q8N2Q7 "10767552|10819331" MGI:2179435 RGD:621117 600568 S09.994 HGNC:14291 "ENST00000695368.1|NM_001365925.2" HGNC:14291 +HGNC:19889 NLE1 notchless homolog 1 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ10458 Notchless gene homolog, (Drosophila) NLE notchless homolog (Drosophila) WD repeat domain containing 362 2005-05-24 2005-08-09 2016-05-04 2023-01-20 54475 ENSG00000073536 OTTHUMG00000132928 uc002hiy.3 NM_018096 "CCDS45647|CCDS11291" Q9NVX2 MGI:2429770 RGD:1308301 HGNC:19889 "ENST00000442241.9|NM_018096.5" +HGNC:14291 NLGN1 neuroligin 1 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 KIAA1070 Neuroligins 1583 2001-01-02 2023-01-20 22871 ENSG00000169760 OTTHUMG00000157005 uc003fio.3 AB028993 NM_014932 "CCDS3222|CCDS93427" Q8N2Q7 "10767552|10819331" MGI:2179435 RGD:621117 600568 S09.994 HGNC:14291 "ENST00000695368.1|NM_001365925.2" HGNC:14291 HGNC:40676 NLGN1-AS1 NLGN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.31 03q26.31 NLGN1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874010 ENSG00000228213 OTTHUMG00000157016 uc062qau.1 NR_046664 NLGN1-AS1 HGNC:40676 HGNC:14290 NLGN2 neuroligin 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KIAA1366 Neuroligins 1583 2001-01-02 2023-01-20 57555 ENSG00000169992 OTTHUMG00000108138 uc060apb.1 AB037787 NM_020795 CCDS11103 Q8NFZ4 "10767552|10819331" MGI:2681835 RGD:621118 606479 S09.995 HGNC:14290 "ENST00000302926.7|NM_020795.4" -HGNC:14289 NLGN3 neuroligin 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "HNL3|KIAA1480|ASPGX1|AUTSX1" Neuroligins 1583 2001-01-02 2023-01-20 54413 ENSG00000196338 OTTHUMG00000021790 uc004dzd.3 AB040913 NM_018977 "CCDS14407|CCDS55442|CCDS94627|CCDS55441" Q9NZ94 "10767552|10819331" MGI:2444609 RGD:621119 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NLGN3 300336 123803 S09.987 HGNC:14289 "ENST00000358741.4|NM_181303.2" HGNC:14289 +HGNC:14289 NLGN3 neuroligin 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "HNL3|KIAA1480|ASPGX1|AUTSX1" Neuroligins 1583 2001-01-02 2023-01-20 54413 ENSG00000196338 OTTHUMG00000021790 uc004dzd.3 AB040913 NM_018977 "CCDS55441|CCDS94627|CCDS14407|CCDS55442" Q9NZ94 "10767552|10819331" MGI:2444609 RGD:621119 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NLGN3 300336 123803 S09.987 HGNC:14289 "ENST00000358741.4|NM_181303.2" HGNC:14289 HGNC:14287 NLGN4X neuroligin 4 X-linked protein-coding gene gene with protein product Approved Xp22.32-p22.31 Xp22.32-p22.31 "KIAA1260|NLGN|HLNX" NLGN4 neuroligin 4 Neuroligins 1583 2001-01-02 2004-05-26 2018-04-26 2023-01-20 57502 ENSG00000146938 OTTHUMG00000021093 uc004crr.5 AB033086 NM_020742 CCDS14126 Q8N0W4 "10574462|32848696" MGI:3775191 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NLGN4X 300427 123807 S09.988 HGNC:14287 "ENST00000381095.8|NM_181332.3" HGNC:14287 HGNC:15529 NLGN4Y neuroligin 4 Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 KIAA0951 neuroligin 4, Y linked Neuroligins 1583 2002-05-22 2018-04-26 2023-03-15 22829 ENSG00000165246 OTTHUMG00000036618 uc004ftg.3 NM_014893 "CCDS14788|CCDS56619|CCDS94714" Q8NFZ3 10231032 MGI:3775191 400028 S09.989 HGNC:15529 "ENST00000684976.1|NM_001365588.1" HGNC:15529 HGNC:38793 NLGN4Y-AS1 NLGN4Y antisense RNA 1 non-coding RNA RNA, long non-coding Approved Yq11.221 Yq11.221 "NLGN4YAS|NLGN4Y-AS" "NLGN4Y antisense RNA (non-protein coding)|NLGN4Y antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-08-04 2010-11-25 2012-08-15 2013-09-20 100874056 ENSG00000228787 OTTHUMG00000058879 uc031tkz.1 NR_046504 NLGN4Y-AS1 HGNC:38793 HGNC:29858 NLK nemo like kinase protein-coding gene gene with protein product Approved 17q11.2 17q11.2 nemo-like kinase 2004-02-19 2016-04-01 2023-01-20 51701 ENSG00000087095 OTTHUMG00000132451 uc010crj.4 AF197898 NM_016231 CCDS11224 Q9UBE8 "9448268|10863097" MGI:1201387 RGD:1561602 609476 objectId:2125 HGNC:29858 "ENST00000407008.8|NM_016231.5" HGNC:16058 NLN neurolysin protein-coding gene gene with protein product Approved 5q12.3 05q12.3 KIAA1226 neurotensin endopeptidase AGTBP "angiotensin binding protein|neurolysin (metallopeptidase M3 family)" M3 metallopeptidase family 1438 2001-07-26 2016-01-27 2023-01-20 57486 ENSG00000123213 OTTHUMG00000097803 uc003juf.3 AJ300837 NM_020726 CCDS3989 Q9BYT8 10574462 MGI:1923055 RGD:621518 611530 3.4.24.16 HGNC:16058 "ENST00000380985.10|NM_020726.5" HGNC:29889 NLRC3 NLR family CARD domain containing 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CLR16.2|FLJ00348|NOD3" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3|NOD-like receptor C3" NLR family 666 2006-12-08 2016-06-01 2023-01-20 197358 ENSG00000167984 OTTHUMG00000177561 uc032dpc.2 BK001112 NM_178844 CCDS73817 Q7RTR2 "15705585|12766759|25277106" MGI:2444070 RGD:1304902 615648 objectId:1764 HGNC:29889 "ENST00000359128.10|NM_178844.4" -HGNC:16412 NLRC4 NLR family CARD domain containing 4 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "CLAN1|ipaf|CLANA|CLANB|CLANC|CLAND|CLR2.1|CLAN" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4|NOD-like receptor C4" CARD12 caspase recruitment domain family, member 12 "NLR family|Caspase recruitment domain containing" "666|959" 2002-09-19 2006-12-08 2016-06-01 2023-01-20 58484 ENSG00000091106 OTTHUMG00000152107 uc061hxs.1 AF376061 NM_021209 "CCDS77400|CCDS33174" Q9NPP4 11374873 MGI:3036243 RGD:1309831 LRG_1317|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1317.xml 606831 444736 objectId:1782 HGNC:16412 "ENST00000402280.6|NM_001199138.2" HGNC:16412 +HGNC:16412 NLRC4 NLR family CARD domain containing 4 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "CLAN1|ipaf|CLANA|CLANB|CLANC|CLAND|CLR2.1|CLAN" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4|NOD-like receptor C4" CARD12 caspase recruitment domain family, member 12 "NLR family|Caspase recruitment domain containing" "666|959" 2002-09-19 2006-12-08 2016-06-01 2023-01-20 58484 ENSG00000091106 OTTHUMG00000152107 uc061hxs.1 AF376061 NM_021209 "CCDS33174|CCDS77400" Q9NPP4 11374873 MGI:3036243 RGD:1309831 LRG_1317|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1317.xml 606831 444736 objectId:1782 HGNC:16412 "ENST00000402280.6|NM_001199138.2" HGNC:16412 HGNC:29933 NLRC5 NLR family CARD domain containing 5 protein-coding gene gene with protein product Approved 16q13 16q13 "NOD27|CLR16.1|FLJ21709" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5|NOD-like receptor C5" NLR family 666 2006-12-08 2016-06-01 2023-01-20 84166 ENSG00000140853 OTTHUMG00000133470 uc021tit.2 AF389420 NM_032206 "CCDS81985|CCDS10773" Q86WI3 "12615073|24815518|23175229" MGI:3612191 RGD:1309166 613537 objectId:1765 HGNC:29933 "ENST00000688547.1|NM_001384950.1" -HGNC:14374 NLRP1 NLR family pyrin domain containing 1 protein-coding gene gene with protein product Approved 17p13 17p13 "KIAA0926|DKFZp586O1822|CARD7|NAC|CLR17.1|DEFCAP|VAMAS1" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1 "NALP1|SLEV1" "NACHT, leucine rich repeat and PYD (pyrin domain) containing 1|systemic lupus erythematosus, vitiligo-related 1" "NLR family|Caspase recruitment domain containing|Pyrin domain containing" "666|959|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 22861 ENSG00000091592 OTTHUMG00000132419 uc060acy.1 AB023143 NM_033004 "CCDS42246|CCDS58508|CCDS42245|CCDS42244|CCDS32537" Q9C000 "8781126|12563287|17377159" MGI:2684861 RGD:1310963 606636 139184 S79.A05 objectId:1768 HGNC:14374 "ENST00000572272.6|NM_033004.4" HGNC:14374 -HGNC:22948 NLRP2 NLR family pyrin domain containing 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ20510|PYPAF2|NBS1|PAN1|CLR19.9" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2 NALP2 NACHT, leucine rich repeat and PYD containing 2 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 55655 ENSG00000022556 OTTHUMG00000167763 uc021vbq.2 AK000517 NM_017852 "CCDS54319|CCDS54318|CCDS12913|CCDS86807" Q9NX02 "12563287|11270363" MGI:3041206 RGD:1589140 609364 objectId:1769 HGNC:22948 "ENST00000448584.7|NM_017852.5" +HGNC:14374 NLRP1 NLR family pyrin domain containing 1 protein-coding gene gene with protein product Approved 17p13 17p13 "KIAA0926|DKFZp586O1822|CARD7|NAC|CLR17.1|DEFCAP|VAMAS1" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1 "NALP1|SLEV1" "NACHT, leucine rich repeat and PYD (pyrin domain) containing 1|systemic lupus erythematosus, vitiligo-related 1" "NLR family|Caspase recruitment domain containing|Pyrin domain containing" "666|959|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 22861 ENSG00000091592 OTTHUMG00000132419 uc060acy.1 AB023143 NM_033004 "CCDS42244|CCDS58508|CCDS42245|CCDS42246|CCDS32537" Q9C000 "8781126|12563287|17377159" MGI:2684861 RGD:1310963 606636 139184 S79.A05 objectId:1768 HGNC:14374 "ENST00000572272.6|NM_033004.4" HGNC:14374 +HGNC:22948 NLRP2 NLR family pyrin domain containing 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ20510|PYPAF2|NBS1|PAN1|CLR19.9" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2 NALP2 NACHT, leucine rich repeat and PYD containing 2 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 55655 ENSG00000022556 OTTHUMG00000167763 uc021vbq.2 AK000517 NM_017852 "CCDS54318|CCDS86807|CCDS54319|CCDS12913" Q9NX02 "12563287|11270363" MGI:3041206 RGD:1589140 609364 objectId:1769 HGNC:22948 "ENST00000448584.7|NM_017852.5" HGNC:29887 NLRP2B NLR family pyrin domain containing 2B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "NOD24|NALP2P|CLRX.1|POP4" NLRP2P NLR family, pyrin domain containing 2 pseudogene "NLR family|Pyrin domain containing" "666|994" 2006-12-08 2016-06-01 2016-06-01 2023-01-20 286430 ENSG00000215174 OTTHUMG00000021686 uc284rbm.1 BK001116 NM_001319967 CCDS83476 P0DMW2 "12766759|24871464" PGOHUM00000304657 HGNC:29887 "ENST00000434992.1|NM_001319967.1" -HGNC:16400 NLRP3 NLR family pyrin domain containing 3 protein-coding gene gene with protein product Approved 1q44 01q44 "AGTAVPRL|AII|AVP|FCAS|FCU|NALP3|PYPAF1|MWS|CLR1.1" "Cryopyrin|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3" "C1orf7|CIAS1|DFNA34" "cold autoinflammatory syndrome 1|deafness, autosomal dominant 34" "NLR family|Pyrin domain containing" "666|994" 2001-08-28 2006-12-08 2016-06-01 2023-01-20 114548 ENSG00000162711 OTTHUMG00000040647 uc001icr.4 AF054176 NM_004895 "CCDS1633|CCDS44347|CCDS44346|CCDS1632" Q96P20 10741953 MGI:2653833 RGD:1308314 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_197|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_197.xml" 606416 123821 objectId:1770 HGNC:16400 "ENST00000336119.8|NM_001243133.2" HGNC:16400 +HGNC:16400 NLRP3 NLR family pyrin domain containing 3 protein-coding gene gene with protein product Approved 1q44 01q44 "AGTAVPRL|AII|AVP|FCAS|FCU|NALP3|PYPAF1|MWS|CLR1.1" "Cryopyrin|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3" "C1orf7|CIAS1|DFNA34" "cold autoinflammatory syndrome 1|deafness, autosomal dominant 34" "NLR family|Pyrin domain containing" "666|994" 2001-08-28 2006-12-08 2016-06-01 2023-01-20 114548 ENSG00000162711 OTTHUMG00000040647 uc001icr.4 AF054176 NM_004895 "CCDS44347|CCDS1633|CCDS1632|CCDS44346" Q96P20 10741953 MGI:2653833 RGD:1308314 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_197|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_197.xml" 606416 123821 objectId:1770 HGNC:16400 "ENST00000336119.8|NM_001243133.2" HGNC:16400 HGNC:29886 NLRP3P1 NLR family pyrin domain containing 3 pseudogene 1 pseudogene pseudogene Approved Xq22.3 Xq22.3 NOD13 NLRP3P NLR family, pyrin domain containing 3 pseudogene "NLR family|Pyrin domain containing" "666|994" 2006-12-08 2016-02-29 2016-06-01 2016-06-01 347402 ENSG00000277883 OTTHUMG00000188083 BK001115 NG_002753 12766759 PGOHUM00000305245 HGNC:29886 HGNC:22943 NLRP4 NLR family pyrin domain containing 4 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "PYPAF4|FLJ32126|PAN2|RNH2|CLR19.5|CT58" "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4|cancer/testis antigen 58" NALP4 NACHT, leucine rich repeat and PYD containing 4 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 147945 ENSG00000160505 OTTHUMG00000181734 uc002qmd.5 AF479747 NM_134444 CCDS12936 Q96MN2 "12563287|12019269" "MGI:1890518|MGI:2145528|MGI:2443697|MGI:3056570|MGI:3056600" RGD:1563529 609645 objectId:1771 HGNC:22943 "ENST00000301295.11|NM_134444.5" HGNC:21269 NLRP5 NLR family pyrin domain containing 5 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "PYPAF8|MATER|PAN11|CLR19.8" "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5|maternal antigen that embryos require" NALP5 NACHT, leucine rich repeat and PYD containing 5 "NLR family|Pyrin domain containing|Subcortical maternal complex" "666|994|1684" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 126206 ENSG00000171487 OTTHUMG00000149887 uc002qmj.4 AY154460 NM_153447 CCDS12938 P59047 "12563287|11925379" MGI:1345193 RGD:1307446 609658 objectId:1772 HGNC:21269 "ENST00000390649.8|NM_153447.4" -HGNC:22944 NLRP6 NLR family pyrin domain containing 6 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "PYPAF5|PAN3|CLR11.4" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6 NALP6 NACHT, leucine rich repeat and PYD containing 6 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 171389 ENSG00000174885 OTTHUMG00000119070 uc010qvs.4 AF479748 NM_138329 "CCDS60680|CCDS7693" P59044 "12563287|12019269" MGI:2141990 RGD:708549 609650 objectId:1773 HGNC:22944 "ENST00000534750.6|NM_001276700.2" -HGNC:22947 NLRP7 NLR family pyrin domain containing 7 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "PYPAF3|NOD12|PAN7|CLR19.4" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 NALP7 NACHT, leucine rich repeat and PYD containing 7 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 199713 ENSG00000167634 OTTHUMG00000180428 uc061ctx.1 AF464765 NM_139176 "CCDS46183|CCDS12912|CCDS33109" Q8WX94 "12563287|12019269" MGI:3041206 INFEVERS: The repertory of RMHs sequence variants|http://fmf.igh.cnrs.fr/infevers/ 609661 123834 objectId:1774 HGNC:22947 HGNC:22947 +HGNC:22944 NLRP6 NLR family pyrin domain containing 6 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "PYPAF5|PAN3|CLR11.4" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6 NALP6 NACHT, leucine rich repeat and PYD containing 6 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 171389 ENSG00000174885 OTTHUMG00000119070 uc010qvs.4 AF479748 NM_138329 "CCDS7693|CCDS60680" P59044 "12563287|12019269" MGI:2141990 RGD:708549 609650 objectId:1773 HGNC:22944 "ENST00000534750.6|NM_001276700.2" +HGNC:22947 NLRP7 NLR family pyrin domain containing 7 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "PYPAF3|NOD12|PAN7|CLR19.4" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 NALP7 NACHT, leucine rich repeat and PYD containing 7 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 199713 ENSG00000167634 OTTHUMG00000180428 uc061ctx.1 AF464765 NM_139176 "CCDS33109|CCDS12912|CCDS46183" Q8WX94 "12563287|12019269" MGI:3041206 INFEVERS: The repertory of RMHs sequence variants|http://fmf.igh.cnrs.fr/infevers/ 609661 123834 objectId:1774 HGNC:22947 HGNC:22947 HGNC:55131 NLRP7P1 NLRP7 pseudogene 1 pseudogene pseudogene Approved Xq26.2 Xq26.2 2020-07-03 2020-07-03 100421039 ENSG00000228450 NG_02676 HGNC:22940 NLRP8 NLR family pyrin domain containing 8 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "NOD16|PAN4|CLR19.2" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8 NALP8 NACHT, leucine rich repeat and PYD containing 8 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 126205 ENSG00000179709 OTTHUMG00000181754 uc002qmh.3 AY154463 NM_176811 "CCDS82402|CCDS12937" Q86W28 12563287 609659 objectId:1775 HGNC:22940 "ENST00000291971.7|NM_176811.2" HGNC:22941 NLRP9 NLR family pyrin domain containing 9 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "NOD6|PAN12|CLR19.1" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9 NALP9 NACHT, leucine rich repeat and PYD containing 9 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 338321 ENSG00000185792 OTTHUMG00000180920 uc002qly.3 AY154464 NM_176820 CCDS12934 Q7RTR0 12563287 "MGI:2675292|MGI:2675377|MGI:3028627" RGD:1308981 609663 objectId:1776 HGNC:22941 "ENST00000332836.7|NM_176820.4" HGNC:29888 NLRP9P1 NLR family pyrin domain containing 9 pseudogene 1 pseudogene pseudogene Approved 12q24.33 12q24.33 NOD25 NLRP9P NLR family, pyrin domain containing 9 pseudogene "NLR family|Pyrin domain containing" "666|994" 2006-12-08 2016-02-29 2016-06-01 2016-06-01 347933 ENSG00000256581 OTTHUMG00000168439 BK001117 NG_002754 12766759 PGOHUM00000291835 HGNC:29888 HGNC:21464 NLRP10 NLR family pyrin domain containing 10 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "NOD8|PAN5|Pynod|CLR11.1" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10 NALP10 NACHT, leucine rich repeat and PYD containing 10 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 338322 ENSG00000182261 OTTHUMG00000165673 uc001mfv.2 AY154465 NM_176821 CCDS7784 Q86W26 12563287 MGI:2444084 RGD:1307387 609662 objectId:1777 HGNC:21464 "ENST00000691676.1|NM_001391958.1" -HGNC:22945 NLRP11 NLR family pyrin domain containing 11 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "PYPAF6|NOD17|PAN10|CLR19.6" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11 NALP11 NACHT, leucine rich repeat and PYD containing 11 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 204801 ENSG00000179873 OTTHUMG00000180921 uc061dcz.1 AY095145 NM_145007 "CCDS12935|CCDS92693|CCDS74458" P59045 "12563287|12019269" 609664 objectId:1778 HGNC:22945 "ENST00000589093.6|NM_001394894.2" HGNC:22945 -HGNC:22938 NLRP12 NLR family pyrin domain containing 12 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "RNO2|PYPAF7|Monarch1|PAN6|CLR19.3" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12 NALP12 NACHT, leucine rich repeat and PYD containing 12 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-03-15 91662 ENSG00000142405 OTTHUMG00000060776 uc002qch.6 AY095146 NM_144687 "CCDS62784|CCDS62785|CCDS12864" P59046 "12563287|12019269" MGI:2676630 RGD:1309415 LRG_181|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_181.xml 609648 138361 objectId:1779 HGNC:22938 "ENST00000324134.11|NM_144687.4" HGNC:22938 -HGNC:22937 NLRP13 NLR family pyrin domain containing 13 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "NOD14|PAN13|CLR19.7" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13 NALP13 NACHT, leucine rich repeat and PYD containing 13 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 126204 ENSG00000173572 OTTHUMG00000167839 uc010ygg.3 AY154468 NM_176810 "CCDS82401|CCDS33119" Q86W25 12563287 609660 objectId:1780 HGNC:22937 "ENST00000342929.4|NM_176810.2" +HGNC:22945 NLRP11 NLR family pyrin domain containing 11 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "PYPAF6|NOD17|PAN10|CLR19.6" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11 NALP11 NACHT, leucine rich repeat and PYD containing 11 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 204801 ENSG00000179873 OTTHUMG00000180921 uc061dcz.1 AY095145 NM_145007 "CCDS92693|CCDS12935|CCDS74458" P59045 "12563287|12019269" 609664 objectId:1778 HGNC:22945 "ENST00000589093.6|NM_001394894.2" HGNC:22945 +HGNC:22938 NLRP12 NLR family pyrin domain containing 12 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "RNO2|PYPAF7|Monarch1|PAN6|CLR19.3" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12 NALP12 NACHT, leucine rich repeat and PYD containing 12 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-03-15 91662 ENSG00000142405 OTTHUMG00000060776 uc002qch.6 AY095146 NM_144687 "CCDS62785|CCDS12864|CCDS62784" P59046 "12563287|12019269" MGI:2676630 RGD:1309415 LRG_181|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_181.xml 609648 138361 objectId:1779 HGNC:22938 "ENST00000324134.11|NM_144687.4" HGNC:22938 +HGNC:22937 NLRP13 NLR family pyrin domain containing 13 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "NOD14|PAN13|CLR19.7" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13 NALP13 NACHT, leucine rich repeat and PYD containing 13 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 126204 ENSG00000173572 OTTHUMG00000167839 uc010ygg.3 AY154468 NM_176810 "CCDS33119|CCDS82401" Q86W25 12563287 609660 objectId:1780 HGNC:22937 "ENST00000342929.4|NM_176810.2" HGNC:22939 NLRP14 NLR family pyrin domain containing 14 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "NOD5|GC-LRR|Nalp-iota|PAN8|CLR11.2" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14 NALP14 NACHT, leucine rich repeat and PYD containing 14 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2023-01-20 338323 ENSG00000158077 OTTHUMG00000165508 uc001mfb.2 BK001107 NM_176822 CCDS7776 Q86W24 12563287 MGI:1924108 RGD:1598218 609665 objectId:1781 HGNC:22939 "ENST00000299481.5|NM_176822.4" HGNC:29890 NLRX1 NLR family member X1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "NOD9|CLR11.3" "nucleotide-binding oligomerization domain, leucine rich repeat containing X1|NOD-like receptor X1|NLR family, X1" NLR family 666 2006-12-08 2023-01-20 79671 ENSG00000160703 OTTHUMG00000154476 uc031yhm.2 AB094095 NM_170722 "CCDS8416|CCDS44752" Q86UT6 12766759 MGI:2429611 RGD:1311293 611947 objectId:1766 HGNC:29890 "ENST00000409109.6|NM_001282144.2" HGNC:7842 NMB neuromedin B protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "MGC2277|MGC3936|MGC17211" 1989-05-11 2023-01-20 4828 ENSG00000197696 OTTHUMG00000148666 uc002bkz.4 NM_021077 "CCDS10332|CCDS42076" P08949 2458345 MGI:1915289 RGD:1562710 162340 ligandId:613 HGNC:7842 "ENST00000360476.8|NM_021077.4" @@ -22766,20 +22768,20 @@ HGNC:40406 NMBR-AS1 NMBR antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:24250 NMD3 NMD3 ribosome export adaptor protein-coding gene gene with protein product Approved 3q26.1 03q26.1 CGI-07 NMD3 homolog (S. cerevisiae) 2005-01-26 2013-08-06 2023-01-20 51068 ENSG00000169251 OTTHUMG00000159063 uc062ppw.1 BC013317 NM_015938 "CCDS3194|CCDS82870" Q96D46 "10810093|23782956|12773398" MGI:2140103 RGD:1308468 611021 HGNC:24250 "ENST00000351193.7|NM_015938.5" HGNC:22672 NMD3P1 NMD3 ribosome export adaptor pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 NMD3P "nonsense-mediated mRNA 3 homolog (S. cerevisiae) pseudogene|nonsense-mediated mRNA 3 homolog (S. cerevisiae) pseudogene 1|NMD3 homolog (S. cerevisiae) pseudogene 1" 2005-01-26 2010-02-26 2013-08-06 2020-04-20 441238 ENSG00000226342 OTTHUMG00000156544 NG_016698 HGNC:22672 HGNC:37820 NMD3P2 NMD3 ribosome export adaptor pseudogene 2 pseudogene pseudogene Approved 7p11.2 07p11.2 "nonsense-mediated mRNA 3 homolog (S. cerevisiae) pseudogene 2|NMD3 homolog (S. cerevisiae) pseudogene 2" 2010-02-26 2013-08-06 2014-11-18 100286929 ENSG00000231504 OTTHUMG00000156288 NG_022534 PGOHUM00000232726 HGNC:37820 -HGNC:7849 NME1 NME/NM23 nucleoside diphosphate kinase 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "NM23|NM23-H1|NDPKA" non-metastatic cells 1, protein (NM23A) expressed in "NME/NM23 family|SET complex" "961|1659" 1991-07-26 2012-05-18 2023-01-20 4830 ENSG00000239672 OTTHUMG00000137474 uc002iti.3 "AL360191|X17620" NM_000269 "CCDS11579|CCDS11578" P15531 "8270257|19852809" MGI:97355 RGD:70497 156490 2.7.4.6 HGNC:7849 "ENST00000393196.8|NM_000269.3" +HGNC:7849 NME1 NME/NM23 nucleoside diphosphate kinase 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "NM23|NM23-H1|NDPKA" non-metastatic cells 1, protein (NM23A) expressed in "NME/NM23 family|SET complex" "961|1659" 1991-07-26 2012-05-18 2023-01-20 4830 ENSG00000239672 OTTHUMG00000137474 uc002iti.3 "AL360191|X17620" NM_000269 "CCDS11578|CCDS11579" P15531 "8270257|19852809" MGI:97355 RGD:70497 156490 2.7.4.6 HGNC:7849 "ENST00000393196.8|NM_000269.3" HGNC:33531 NME1-NME2 NME1-NME2 readthrough other readthrough Approved 17q21.33 17q21.33 "NM23-LV|NMELV" 2007-07-31 2023-03-15 654364 ENSG00000011052 OTTHUMG00000137475 uc002itj.4 DQ109675 NM_001018136 16442775 "MGI:97356|MGI:3648428" HGNC:33531 HGNC:39904 NME1P1 NME/NM23 nucleoside diphosphate kinase 1 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 non-metastatic cells 1, protein (NM23A) expressed in, pseudogene 1 2011-05-18 2012-05-18 2012-05-18 100874501 ENSG00000237175 OTTHUMG00000016549 NG_032368 PGOHUM00000248324 HGNC:39904 -HGNC:7850 NME2 NME/NM23 nucleoside diphosphate kinase 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "NM23-H2|NDPKB" non-metastatic cells 2, protein (NM23B) expressed in NME/NM23 family 961 1991-07-26 2012-05-18 2023-01-20 4831 ENSG00000243678 OTTHUMG00000154062 uc002itl.3 X58965 NM_002512 "CCDS11580|CCDS74107" P22392 "1988104|19852809" MGI:97356 RGD:619877 156491 2.7.4.6 HGNC:7850 "ENST00000512737.6|NM_002512.4" +HGNC:7850 NME2 NME/NM23 nucleoside diphosphate kinase 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "NM23-H2|NDPKB" non-metastatic cells 2, protein (NM23B) expressed in NME/NM23 family 961 1991-07-26 2012-05-18 2023-01-20 4831 ENSG00000243678 OTTHUMG00000154062 uc002itl.3 X58965 NM_002512 "CCDS74107|CCDS11580" P22392 "1988104|19852809" MGI:97356 RGD:619877 156491 2.7.4.6 HGNC:7850 "ENST00000512737.6|NM_002512.4" HGNC:31358 NME2P1 NME2 pseudogene 1 pseudogene pseudogene Approved 12q24.23 12q24.23 "non-metastatic cells 2, protein (NM23B) expressed in, pseudogene 1|NME/NM23 nucleoside diphosphate kinase 2 pseudogene 1" 2004-03-11 2020-01-08 2020-01-08 283458 ENSG00000123009 OTTHUMG00000168971 NR_001577 O60361 MGI:97356 HGNC:31358 HGNC:54766 NME2P2 NME2 pseudogene 2 pseudogene pseudogene Approved 2p16.3 02p16.3 2020-01-08 2020-01-08 100289315 ENSG00000224443 NG_021562 HGNC:54767 NME2P3 NME2 pseudogene 3 pseudogene pseudogene Approved 9q22.33 09q22.33 2020-01-08 2020-01-08 100288125 ENSG00000229338 NG_027863 HGNC:7851 NME3 NME/NM23 nucleoside diphosphate kinase 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "DR-nm23|NM23-H3|NDPKC" non-metastatic cells 3, protein expressed in NME/NM23 family 961 1996-12-19 2012-05-18 2023-01-20 4832 ENSG00000103024 OTTHUMG00000128635 uc002cmm.4 U29656 NM_002513 CCDS10443 Q13232 "9067290|19852809" MGI:1930182 RGD:619879 601817 2.7.4.6 HGNC:7851 "ENST00000219302.8|NM_002513.3" -HGNC:7852 NME4 NME/NM23 nucleoside diphosphate kinase 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "nm23-H4|NM23H4|NDPKD" non-metastatic cells 4, protein expressed in NME/NM23 family 961 1996-12-19 2012-05-18 2023-01-20 4833 ENSG00000103202 OTTHUMG00000047995 uc002cgz.4 Y07604 NM_005009 "CCDS66886|CCDS73797|CCDS10408" O00746 "9099850|19852809" MGI:1931148 RGD:1591334 601818 2.7.4.6 HGNC:7852 "ENST00000219479.7|NM_005009.3" +HGNC:7852 NME4 NME/NM23 nucleoside diphosphate kinase 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "nm23-H4|NM23H4|NDPKD" non-metastatic cells 4, protein expressed in NME/NM23 family 961 1996-12-19 2012-05-18 2023-01-20 4833 ENSG00000103202 OTTHUMG00000047995 uc002cgz.4 Y07604 NM_005009 "CCDS10408|CCDS66886|CCDS73797" O00746 "9099850|19852809" MGI:1931148 RGD:1591334 601818 2.7.4.6 HGNC:7852 "ENST00000219479.7|NM_005009.3" HGNC:7853 NME5 NME/NM23 family member 5 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "nm23-H5|RSPH23" radial spoke 23 homolog (Chlamydomonas) non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) NME/NM23 family 961 1998-02-26 2012-05-18 2023-01-20 8382 ENSG00000112981 OTTHUMG00000129207 uc003lce.4 Y14992 NM_003551 CCDS4197 P56597 "9742940|19852809" MGI:1922783 RGD:1583004 603575 HGNC:7853 "ENST00000265191.4|NM_003551.3" -HGNC:20567 NME6 NME/NM23 nucleoside diphosphate kinase 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "NM23-H6|IPIA-ALPHA" non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) NME/NM23 family 961 2003-02-25 2012-05-18 2023-01-20 10201 ENSG00000172113 OTTHUMG00000133531 uc062jgf.1 AF051941 NM_005793 "CCDS77734|CCDS82768|CCDS82767|CCDS77733|CCDS2763" O75414 "10453732|19852809" MGI:1861676 RGD:61896 608294 2.7.4.6 HGNC:20567 "ENST00000442597.6|NM_001308426.2" -HGNC:20461 NME7 NME/NM23 family member 7 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "FLJ37194|NM23-H7|CFAP67" cilia and flagella associated protein 67 non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) "NME/NM23 family|Cilia and flagella associated" "961|1491" 2003-02-24 2012-05-18 2023-01-20 29922 ENSG00000143156 OTTHUMG00000034586 uc001gfu.5 AF153191 NM_013330 "CCDS1277|CCDS44274" Q9Y5B8 19852809 MGI:2449121 RGD:619880 613465 469734 2.7.4.6 HGNC:20461 "ENST00000367811.8|NM_013330.5" HGNC:20461 +HGNC:20567 NME6 NME/NM23 nucleoside diphosphate kinase 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "NM23-H6|IPIA-ALPHA" non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) NME/NM23 family 961 2003-02-25 2012-05-18 2023-01-20 10201 ENSG00000172113 OTTHUMG00000133531 uc062jgf.1 AF051941 NM_005793 "CCDS2763|CCDS77733|CCDS77734|CCDS82768|CCDS82767" O75414 "10453732|19852809" MGI:1861676 RGD:61896 608294 2.7.4.6 HGNC:20567 "ENST00000442597.6|NM_001308426.2" +HGNC:20461 NME7 NME/NM23 family member 7 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "FLJ37194|NM23-H7|CFAP67" cilia and flagella associated protein 67 non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) "NME/NM23 family|Cilia and flagella associated" "961|1491" 2003-02-24 2012-05-18 2023-01-20 29922 ENSG00000143156 OTTHUMG00000034586 uc001gfu.5 AF153191 NM_013330 "CCDS44274|CCDS1277" Q9Y5B8 19852809 MGI:2449121 RGD:619880 613465 469734 2.7.4.6 HGNC:20461 "ENST00000367811.8|NM_013330.5" HGNC:20461 HGNC:16473 NME8 NME/NM23 family member 8 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "CILD6|SPTRX2|NM23-H8|DNAI8" sperm-specific thioredoxin 2 TXNDC3 thioredoxin domain containing 3 (spermatozoa) "NME/NM23 family|Thioredoxin domain containing |Dyneins, axonemal outer arm complex subunits" "961|1883|2031" 2002-11-11 2012-05-18 2012-05-18 2023-01-20 51314 ENSG00000086288 OTTHUMG00000023716 uc003tfn.4 AF202051 NM_016616 CCDS5452 Q8N427 "11737268|11768308|19852809" MGI:1920662 RGD:735069 607421 138359 HGNC:16473 "ENST00000199447.9|NM_016616.5" HGNC:16473 -HGNC:21343 NME9 NME/NM23 family member 9 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "TXL-2|NM23-H9" TXNDC6 "thioredoxin domain containing 6|NME gene family member 9|NME family member 9" "NME/NM23 family|Thioredoxin domain containing " "961|1883" 2004-05-12 2011-08-24 2012-05-18 2023-01-20 347736 ENSG00000181322 OTTHUMG00000159823 uc003esg.4 AF196568 NM_178130 "CCDS3099|CCDS87142|CCDS87141" Q86XW9 "12569107|19852809" MGI:4359686 RGD:1564871 618584 HGNC:21343 "ENST00000333911.9|NM_001349018.2" +HGNC:21343 NME9 NME/NM23 family member 9 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "TXL-2|NM23-H9" TXNDC6 "thioredoxin domain containing 6|NME gene family member 9|NME family member 9" "NME/NM23 family|Thioredoxin domain containing " "961|1883" 2004-05-12 2011-08-24 2012-05-18 2023-01-20 347736 ENSG00000181322 OTTHUMG00000159823 uc003esg.4 AF196568 NM_178130 "CCDS3099|CCDS87141|CCDS87142" Q86XW9 "12569107|19852809" MGI:4359686 RGD:1564871 618584 HGNC:21343 "ENST00000333911.9|NM_001349018.2" HGNC:7854 NMI N-myc and STAT interactor protein-coding gene gene with protein product Approved 2q23.3 02q23.3 N-myc (and STAT) interactor 1999-02-18 2015-11-18 2023-01-20 9111 ENSG00000123609 OTTHUMG00000131867 uc002txi.3 U32849 NM_004688 CCDS2192 Q13287 "8668343|9989503" MGI:1928368 RGD:1311721 603525 HGNC:7854 "ENST00000243346.10|NM_004688.3" HGNC:17877 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "NMNAT|PNAT1" nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 LCA9 "nicotinamide nucleotide adenylyltransferase|Leber congenital amaurosis 9|Leber's congenital amaurosis 9" MicroRNA protein coding host genes 1691 2002-02-19 2003-05-02 2003-04-30 2023-01-20 64802 ENSG00000173614 OTTHUMG00000001799 uc001aqp.3 AF312734 NM_001297778 "CCDS108|CCDS72698" Q9HAN9 "11248244|11027696|22842227" MGI:1913704 RGD:1310996 608700 310793 2.7.7.1 HGNC:17877 "ENST00000377205.6|NM_022787.4" HGNC:17877 HGNC:20024 NMNAT1P1 NMNAT1 pseudogene 1 pseudogene pseudogene Approved 14q31.1 14q31.1 NMNATP nicotinamide nucleotide adenylyltransferase pseudogene 2003-01-13 2013-09-20 2013-09-20 2014-11-19 326607 ENSG00000259167 OTTHUMG00000171431 NG_009206 PGOHUM00000248242 HGNC:20024 @@ -22787,11 +22789,11 @@ HGNC:49164 NMNAT1P2 NMNAT1 pseudogene 2 pseudogene pseudogene Approved 1q23.3 01 HGNC:49165 NMNAT1P3 NMNAT1 pseudogene 3 pseudogene pseudogene Approved 3q28 03q28 2013-09-20 2013-09-20 391603 ENSG00000238077 OTTHUMG00000156232 NG_022286 PGOHUM00000238298 HGNC:49165 HGNC:49166 NMNAT1P4 NMNAT1 pseudogene 4 pseudogene pseudogene Approved 4q31.21 04q31.21 2013-09-20 2013-09-20 100132841 ENSG00000248745 OTTHUMG00000161593 NG_022084 PGOHUM00000246097 HGNC:49166 HGNC:49167 NMNAT1P5 NMNAT1 pseudogene 5 pseudogene pseudogene Approved 15q22.2 15q22.2 2013-09-20 2013-09-20 100129256 ENSG00000259573 OTTHUMG00000172010 NG_022131 PGOHUM00000247137 HGNC:49167 -HGNC:16789 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "KIAA0479|PNAT2" C1orf15 chromosome 1 open reading frame 15 2001-10-08 2003-05-02 2003-04-30 2023-01-20 23057 ENSG00000157064 OTTHUMG00000035519 uc001gqc.3 AF288395 NM_015039 "CCDS1354|CCDS1353" Q9BZQ4 "11318611|12359228" MGI:2444155 RGD:1307331 608701 HGNC:16789 "ENST00000287713.7|NM_015039.4" -HGNC:20989 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 protein-coding gene gene with protein product Approved 3q23 03q23 PNAT3 2003-04-30 2023-01-20 349565 ENSG00000163864 OTTHUMG00000159951 uc062ojj.1 AF345564 NM_178177 "CCDS87145|CCDS87147|CCDS3111|CCDS93397|CCDS93398|CCDS82846|CCDS56282" Q96T66 12574164 MGI:1921330 RGD:1309140 608702 HGNC:20989 "ENST00000643695.2|NM_001320510.2" +HGNC:16789 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "KIAA0479|PNAT2" C1orf15 chromosome 1 open reading frame 15 2001-10-08 2003-05-02 2003-04-30 2023-01-20 23057 ENSG00000157064 OTTHUMG00000035519 uc001gqc.3 AF288395 NM_015039 "CCDS1353|CCDS1354" Q9BZQ4 "11318611|12359228" MGI:2444155 RGD:1307331 608701 HGNC:16789 "ENST00000287713.7|NM_015039.4" +HGNC:20989 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 protein-coding gene gene with protein product Approved 3q23 03q23 PNAT3 2003-04-30 2023-01-20 349565 ENSG00000163864 OTTHUMG00000159951 uc062ojj.1 AF345564 NM_178177 "CCDS56282|CCDS93397|CCDS87147|CCDS3111|CCDS93398|CCDS87145|CCDS82846" Q96T66 12574164 MGI:1921330 RGD:1309140 608702 HGNC:20989 "ENST00000643695.2|NM_001320510.2" HGNC:24987 NMRAL1 NmrA like redox sensor 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ25918|HSCARG|SDR48A1" short chain dehydrogenase/reductase family 48A, member 1 NmrA-like family domain containing 1 Short chain dehydrogenase/reductase superfamily 743 2006-05-10 2016-07-15 2023-01-20 57407 ENSG00000153406 OTTHUMG00000129468 uc059qfd.1 AF225419 NM_020677 CCDS10516 Q9HBL8 "18263583|19027726" MGI:1915074 RGD:1311451 620004 HGNC:24987 "ENST00000283429.11|NM_020677.6" HGNC:52332 NMRAL2P NmrA like redox sensor 2, pseudogene pseudogene pseudogene Approved 3q27.2 03q27.2 LOC344887 NMRAL1P1 NmrA like redox sensor 1 pseudogene 1 2016-07-22 2016-09-26 2016-09-26 2020-11-09 344887 ENSG00000171658 OTTHUMG00000156640 NR_033752 "28245089|33126057" PGOHUM00000299687 HGNC:52332 -HGNC:26057 NMRK1 nicotinamide riboside kinase 1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "FLJ20559|NRK1|bA235O14.2" ribosylnicotinamide kinase C9orf95 chromosome 9 open reading frame 95 2004-03-11 2012-03-30 2012-03-30 2023-01-20 54981 ENSG00000106733 OTTHUMG00000020034 uc004ajr.5 AK097144 NM_017881 "CCDS6650|CCDS47981|CCDS83374" Q9NWW6 15137942 MGI:2147434 RGD:1564687 608704 2.7.1.22 HGNC:26057 "ENST00000361092.9|NM_017881.3" HGNC:26057 +HGNC:26057 NMRK1 nicotinamide riboside kinase 1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "FLJ20559|NRK1|bA235O14.2" ribosylnicotinamide kinase C9orf95 chromosome 9 open reading frame 95 2004-03-11 2012-03-30 2012-03-30 2023-01-20 54981 ENSG00000106733 OTTHUMG00000020034 uc004ajr.5 AK097144 NM_017881 "CCDS83374|CCDS47981|CCDS6650" Q9NWW6 15137942 MGI:2147434 RGD:1564687 608704 2.7.1.22 HGNC:26057 "ENST00000361092.9|NM_017881.3" HGNC:26057 HGNC:17871 NMRK2 nicotinamide riboside kinase 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MIBP|NRK2" "muscle-specific beta 1 integrin binding protein|nicotinamide riboside kinase 2" ITGB1BP3 integrin beta 1 binding protein 3 2003-12-15 2012-05-31 2012-05-31 2023-01-20 27231 ENSG00000077009 OTTHUMG00000181758 uc002lyz.4 AF190819 "NM_014446|NM_170678" "CCDS74259|CCDS12115" Q9NPI5 "10613898|15137942" MGI:1916814 RGD:6486791 608705 HGNC:17871 "ENST00000168977.7|NM_170678.3" HGNC:32203 NMS neuromedin S protein-coding gene gene with protein product Approved 2q11.2 02q11.2 prepro-NMS Neuropeptides 1902 2005-08-16 2023-01-20 129521 ENSG00000204640 OTTHUMG00000153142 uc002tan.1 AB164464 NM_001011717 CCDS33259 Q5H8A3 15635449 MGI:3583618 RGD:1359122 619337 ligandId:1468 HGNC:32203 "ENST00000376865.1|NM_001011717.1" HGNC:7857 NMT1 N-myristoyltransferase 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 NMT "alternative, short form NMT-S|myristoyl-CoA:protein N-myristoyltransferase|long form, NMT-L" 1993-09-10 2023-01-20 4836 ENSG00000136448 OTTHUMG00000180003 uc002ihz.4 NM_021079 CCDS11494 P30419 1570339 MGI:102579 RGD:628642 160993 HGNC:7857 "ENST00000258960.7|NM_021079.5" @@ -22823,10 +22825,10 @@ HGNC:34614 NMTRS-TGA1-1 nuclear-encoded mitochondrial tRNA-Ser (TGA) 1-1 non-cod HGNC:35100 NMTRS-TGA2-1 nuclear-encoded mitochondrial tRNA-Ser (TGA) 2-1 non-coding RNA RNA, transfer Approved 2q21.1 02q21.1 nmt-tRNA-Ser-TGA-2-1 TRNAS31P "transfer RNA serine 31 (anticodon UGA) pseudogene|nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 2-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189525 HG984170 NG_008583 HGNC:35100 HGNC:35087 NMTRS-TGA3-1 nuclear-encoded mitochondrial tRNA-Ser (TGA) 3-1 non-coding RNA RNA, transfer Approved 17p11.2 17p11.2 nmt-tRNA-Ser-TGA-3-1 TRNAS30P "transfer RNA serine 30 (anticodon UGA) pseudogene|nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 3-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189512 ENSG00000241225 OTTHUMG00000179090 HG984171 NG_008570 HGNC:35087 HGNC:35088 NMTRV-TAC1-1 nuclear-encoded mitochondrial tRNA-Val (TAC) 1-1 non-coding RNA RNA, transfer Approved 6q25.3 06q25.3 nmt-tRNA-Val-TAC-1-1 TRNAV37P "transfer RNA valine 37 (anticodon UAC) pseudogene|nuclear-encoded mitochondrial transfer RNA-Val (TAC) 1-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189513 HG984172 NG_008571 HGNC:35088 -HGNC:7859 NMU neuromedin U protein-coding gene gene with protein product Approved 4q12 04q12 prepro-NMU Neuropeptides 1902 1999-08-06 2023-01-20 10874 ENSG00000109255 OTTHUMG00000102161 uc003hbc.3 X76029 NM_001292045 "CCDS75125|CCDS3501|CCDS77914" P48645 7619205 MGI:1860476 RGD:68388 605103 ligandId:1470 HGNC:7859 "ENST00000264218.7|NM_006681.4" +HGNC:7859 NMU neuromedin U protein-coding gene gene with protein product Approved 4q12 04q12 prepro-NMU Neuropeptides 1902 1999-08-06 2023-01-20 10874 ENSG00000109255 OTTHUMG00000102161 uc003hbc.3 X76029 NM_001292045 "CCDS77914|CCDS3501|CCDS75125" P48645 7619205 MGI:1860476 RGD:68388 605103 ligandId:1470 HGNC:7859 "ENST00000264218.7|NM_006681.4" HGNC:4518 NMUR1 neuromedin U receptor 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "GPC-R|FM-3|NMU1R" GPR66 G protein-coupled receptor 66 Neuromedin U receptors 239 1999-06-02 2004-05-28 2004-05-27 2023-01-20 10316 ENSG00000171596 OTTHUMG00000133225 uc002vry.5 AF044600 NM_006056 CCDS2486 Q9HB89 9782091 MGI:1341898 RGD:619867 604153 objectId:298 HGNC:4518 "ENST00000305141.5|NM_006056.5" HGNC:16454 NMUR2 neuromedin U receptor 2 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 NMU2R Neuromedin U receptors 239 2001-08-24 2004-05-28 2023-01-20 56923 ENSG00000132911 OTTHUMG00000130131 uc003luv.3 AF242874 NM_020167 CCDS4321 Q9GZQ4 "8940772|10894543" MGI:2441765 RGD:621155 605108 objectId:299 HGNC:16454 "ENST00000255262.4|NM_020167.5" -HGNC:7860 NNAT neuronatin protein-coding gene gene with protein product Approved 20q11.23 20q11.23 Peg5 1996-07-29 2023-01-20 4826 ENSG00000053438 OTTHUMG00000032420 uc002xhd.4 NM_005386 "CCDS13297|CCDS13296|CCDS93038" Q16517 "8660979|27109921" MGI:104716 RGD:620155 LRG_1048|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1048.xml 603106 HGNC:7860 "ENST00000649451.1|NM_005386.4" +HGNC:7860 NNAT neuronatin protein-coding gene gene with protein product Approved 20q11.23 20q11.23 Peg5 1996-07-29 2023-01-20 4826 ENSG00000053438 OTTHUMG00000032420 uc002xhd.4 NM_005386 "CCDS13297|CCDS93038|CCDS13296" Q16517 "8660979|27109921" MGI:104716 RGD:620155 LRG_1048|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1048.xml 603106 HGNC:7860 "ENST00000649451.1|NM_005386.4" HGNC:7861 NNMT nicotinamide N-methyltransferase protein-coding gene gene with protein product Approved 11q23.2 11q23.2 7BS small molecule methyltransferases 2063 1994-04-18 2023-01-20 4837 ENSG00000166741 OTTHUMG00000168245 uc001por.2 U08021 NM_006169 CCDS8368 P40261 8575745 MGI:1099443 RGD:1309606 600008 objectId:3205 2.1.1.1 HGNC:7861 "ENST00000299964.4|NM_006169.3" HGNC:7863 NNT nicotinamide nucleotide transhydrogenase protein-coding gene gene with protein product Approved 5p12 05p12 1999-11-16 2023-01-20 23530 ENSG00000112992 OTTHUMG00000096961 uc003joe.4 U40490 NM_182977 "CCDS82994|CCDS3949" Q13423 "9271681|9524818" MGI:109279 RGD:1587346 607878 304075 1.6.1.1 HGNC:7863 "ENST00000344920.9|NM_182977.3" HGNC:7863 HGNC:49005 NNT-AS1 NNT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p12 05p12 RP11-159F24.1 Antisense RNAs 1987 2013-07-30 2018-11-30 100652772 ENSG00000248092 OTTHUMG00000162220 NR_073113 "27966450|28628975" NNT-AS1 HGNC:49005 @@ -22840,36 +22842,36 @@ HGNC:24034 NOC3L NOC3 like DNA replication regulator protein-coding gene gene wi HGNC:28461 NOC4L nucleolar complex associated 4 homolog protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "MGC3162|NET49|UTP19|Noc4" nucleolar complex associated 4 homolog (S. cerevisiae) "SSU processome|Armadillo like helical domain containing" "1484|1492" 2005-08-01 2015-07-03 2023-01-20 79050 ENSG00000184967 OTTHUMG00000168260 uc001ujz.1 NM_024078 CCDS9277 Q9BVI4 12446671 MGI:2140843 RGD:1310661 612819 HGNC:28461 "ENST00000330579.6|NM_024078.3" HGNC:14254 NOCT nocturnin protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "CCR4L|Ccr4c|NOC" CCRN4L "CCR4-like (carbon catabolite repression 4, S.cerevisiae)|CCR4 carbon catabolite repression 4-like (S. cerevisiae)" 2000-12-14 2015-06-19 2015-06-19 2023-01-20 25819 ENSG00000151014 OTTHUMG00000161271 AF183961 NM_012118 CCDS3743 Q9UK39 "10521507|11394964" MGI:109382 RGD:1587344 608468 HGNC:14254 "ENST00000280614.4|NM_012118.4" HGNC:16390 NOD1 nucleotide binding oligomerization domain containing 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "NLRC1|CLR7.1" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1|NLR family, CARD domain containing 1" CARD4 caspase recruitment domain family, member 4 "NLR family|Caspase recruitment domain containing" "666|959" 2001-12-11 2006-12-08 2015-11-19 2023-01-20 10392 ENSG00000106100 OTTHUMG00000023923 uc003tav.4 AF126484 NM_001354849 CCDS5427 Q9Y239 "10224040|10329646" MGI:1341839 RGD:1562269 605980 objectId:1762 HGNC:16390 "ENST00000222823.9|NM_006092.4" -HGNC:5331 NOD2 nucleotide binding oligomerization domain containing 2 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "BLAU|CD|PSORAS1|CLR16.3|NLRC2" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2|NOD-like receptor C2|NLR family, CARD domain containing 2" "IBD1|CARD15" caspase recruitment domain family, member 15 "NLR family|Caspase recruitment domain containing" "666|959" 1998-07-10 2006-12-08 2015-11-19 2023-01-20 64127 ENSG00000167207 OTTHUMG00000133171 uc002egm.2 AF178930 NM_022162 "CCDS86525|CCDS10746" Q9HC29 "7809109|8587604" MGI:2429397 RGD:1306368 LRG_177|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_177.xml 605956 123845 objectId:1763 HGNC:5331 "ENST00000647318.2|NM_001370466.1" HGNC:5331 +HGNC:5331 NOD2 nucleotide binding oligomerization domain containing 2 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "BLAU|CD|PSORAS1|CLR16.3|NLRC2" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2|NOD-like receptor C2|NLR family, CARD domain containing 2" "IBD1|CARD15" caspase recruitment domain family, member 15 "NLR family|Caspase recruitment domain containing" "666|959" 1998-07-10 2006-12-08 2015-11-19 2023-01-20 64127 ENSG00000167207 OTTHUMG00000133171 uc002egm.2 AF178930 NM_022162 "CCDS10746|CCDS86525" Q9HC29 "7809109|8587604" MGI:2429397 RGD:1306368 LRG_177|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_177.xml 605956 123845 objectId:1763 HGNC:5331 "ENST00000647318.2|NM_001370466.1" HGNC:5331 HGNC:7865 NODAL nodal growth differentiation factor protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "nodal, mouse, homolog|nodal homolog (mouse)" Transforming growth factor beta superfamily 1932 1998-06-05 2012-12-07 2023-01-20 4838 ENSG00000156574 OTTHUMG00000018408 uc001jrc.3 BC033585 NM_018055 CCDS7304 Q96S42 9354794 MGI:97359 RGD:1305994 601265 281884 HGNC:7865 "ENST00000287139.8|NM_018055.5" HGNC:7865 HGNC:7866 NOG noggin protein-coding gene gene with protein product Approved 17q22 17q22 "SYNS1|SYM1" "synostoses (multiple) syndrome 1|symphalangism 1 (proximal)" 1999-03-24 2003-03-12 2023-01-20 9241 ENSG00000183691 OTTHUMG00000151770 uc002iup.2 U31202 NM_005450 CCDS11589 Q13253 "7666191|10080184|11545688" MGI:104327 RGD:3183 602991 123854 ligandId:10975 HGNC:7866 "ENST00000332822.6|NM_005450.6" HGNC:7866 HGNC:7869 NOL3 nucleolar protein 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "ARC|NOP30|MYP|CARD2" nucleolar protein 3 (apoptosis repressor with CARD domain) Caspase recruitment domain containing 959 1999-01-13 2015-11-27 2023-01-20 8996 ENSG00000140939 OTTHUMG00000173316 uc031qwo.2 AF043244 NM_001185057 "CCDS58473|CCDS42176" O60936 9560245 MGI:1925938 RGD:708558 605235 324240 HGNC:7869 HGNC:7869 -HGNC:7870 NOL4 nucleolar protein 4 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "NOLP|HRIHFB2255|CT125" cancer/testis antigen 125 2000-02-11 2023-01-20 8715 ENSG00000101746 OTTHUMG00000132291 uc010dmi.3 AB017800 NM_003787 "CCDS59308|CCDS56058|CCDS11907|CCDS56059" O94818 9813152 MGI:2441684 RGD:1310663 603577 HGNC:7870 "ENST00000261592.10|NM_003787.5" +HGNC:7870 NOL4 nucleolar protein 4 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "NOLP|HRIHFB2255|CT125" cancer/testis antigen 125 2000-02-11 2023-01-20 8715 ENSG00000101746 OTTHUMG00000132291 uc010dmi.3 AB017800 NM_003787 "CCDS11907|CCDS56059|CCDS59308|CCDS56058" O94818 9813152 MGI:2441684 RGD:1310663 603577 HGNC:7870 "ENST00000261592.10|NM_003787.5" HGNC:16106 NOL4L nucleolar protein 4 like protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ1184F4.2|DKFZP566G1424|dJ1184F4.4" hypothetical protein LOC140688 "C20orf113|C20orf112" "chromosome 20 open reading frame 113|chromosome 20 open reading frame 112" 2001-07-17 2014-05-07 2016-06-17 2023-01-20 140688 ENSG00000197183 OTTHUMG00000032219 AL034550 NM_080616 "CCDS13202|CCDS74718" Q96MY1 "11780052|15302935|20520637" MGI:1918765 RGD:1563510 618893 HGNC:16106 "ENST00000621426.7|NM_001256798.2" HGNC:44310 NOL4L-DT NOL4L divergent transcript non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 Divergent transcripts 1990 2017-08-03 2017-08-03 2017-08-03 149950 ENSG00000204393 OTTHUMG00000032222 NR_034152 HGNC:44310 -HGNC:19910 NOL6 nucleolar protein 6 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA311H10.1|Nrap|FLJ21959|MGC14896|MGC14921|MGC20838|UTP22" "nucleolar protein family 6 (RNA-associated)|nucleolar protein 6 (RNA-associated)" "UTPc subcomplex|MicroRNA protein coding host genes" "1490|1691" 2002-12-04 2015-11-27 2023-01-20 65083 ENSG00000165271 OTTHUMG00000000394 uc003zsz.4 AF361079 NM_022917 "CCDS6543|CCDS6544" Q9H6R4 "11895476|15590835" MGI:2140151 RGD:1308033 611532 HGNC:19910 "ENST00000297990.9|NM_022917.5" +HGNC:19910 NOL6 nucleolar protein 6 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA311H10.1|Nrap|FLJ21959|MGC14896|MGC14921|MGC20838|UTP22" "nucleolar protein family 6 (RNA-associated)|nucleolar protein 6 (RNA-associated)" "UTPc subcomplex|MicroRNA protein coding host genes" "1490|1691" 2002-12-04 2015-11-27 2023-01-20 65083 ENSG00000165271 OTTHUMG00000000394 uc003zsz.4 AF361079 NM_022917 "CCDS6544|CCDS6543" Q9H6R4 "11895476|15590835" MGI:2140151 RGD:1308033 611532 HGNC:19910 "ENST00000297990.9|NM_022917.5" HGNC:21040 NOL7 nucleolar protein 7 protein-coding gene gene with protein product Approved 6p23 06p23 "NOP27|RARG-1|dJ223E5.2" "C6orf90|PQBP3" "chromosome 6 open reading frame 90|polyglutamine binding protein 3|nucleolar protein 7, 27kDa" 2004-02-10 2015-11-09 2023-01-20 51406 ENSG00000225921 OTTHUMG00000014277 uc003naz.4 AF172066 NM_016167 CCDS4528 Q9UMY1 16205646 MGI:1917328 RGD:1565934 611533 HGNC:21040 "ENST00000451315.7|NM_016167.5" -HGNC:23387 NOL8 nucleolar protein 8 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "FLJ20736|Nop132" C9orf34 chromosome 9 open reading frame 34 RNA binding motif containing 725 2003-11-14 2004-01-14 2004-01-12 2023-01-20 55035 ENSG00000198000 OTTHUMG00000020221 uc064uhl.1 AB109030 NM_017948 "CCDS83384|CCDS47993|CCDS59135" Q76FK4 "15132771|30125550" MGI:1918180 RGD:1309551 611534 HGNC:23387 "ENST00000442668.7|NM_017948.6" +HGNC:23387 NOL8 nucleolar protein 8 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "FLJ20736|Nop132" C9orf34 chromosome 9 open reading frame 34 RNA binding motif containing 725 2003-11-14 2004-01-14 2004-01-12 2023-01-20 55035 ENSG00000198000 OTTHUMG00000020221 uc064uhl.1 AB109030 NM_017948 "CCDS59135|CCDS47993|CCDS83384" Q76FK4 "15132771|30125550" MGI:1918180 RGD:1309551 611534 HGNC:23387 "ENST00000442668.7|NM_017948.6" HGNC:49557 NOL8P1 nucleolar protein 8 pseudogene 1 pseudogene pseudogene Approved 4q32.3 04q32.3 2014-01-14 2014-01-14 402191 ENSG00000248327 OTTHUMG00000161128 NG_008249 PGOHUM00000259922 HGNC:49557 HGNC:26265 NOL9 nucleolar protein 9 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "FLJ23323|NET6|Grc3" polynucleotide 5'-kinase Large ribosomal subunit biogenesis complex 1301 2005-08-08 2023-01-20 79707 ENSG00000162408 OTTHUMG00000000904 uc001ans.4 AK091284 NM_024654 CCDS80 Q5SY16 21063389 MGI:1921285 RGD:1566167 620304 HGNC:26265 "ENST00000377705.6|NM_024654.5" -HGNC:25862 NOL10 nucleolar protein 10 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 FLJ14075 PQBP5 polyglutamine binding protein 5 WD repeat domain containing 362 2005-08-08 2023-01-20 79954 ENSG00000115761 OTTHUMG00000119023 uc002raq.4 AK024137 NM_024894 "CCDS58698|CCDS1673|CCDS58697" Q9BSC4 27599843 MGI:2684913 RGD:1359447 616197 HGNC:25862 "ENST00000381685.10|NM_024894.4" +HGNC:25862 NOL10 nucleolar protein 10 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 FLJ14075 PQBP5 polyglutamine binding protein 5 WD repeat domain containing 362 2005-08-08 2023-01-20 79954 ENSG00000115761 OTTHUMG00000119023 uc002raq.4 AK024137 NM_024894 "CCDS58697|CCDS1673|CCDS58698" Q9BSC4 27599843 MGI:2684913 RGD:1359447 616197 HGNC:25862 "ENST00000381685.10|NM_024894.4" HGNC:24557 NOL11 nucleolar protein 11 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 DKFZP586L0724 "UTPa subcomplex|Small nucleolar RNA protein coding host genes" "1483|1835" 2005-08-08 2023-01-20 25926 ENSG00000130935 OTTHUMG00000179777 uc002jgd.2 AK023702 NM_015462 CCDS11671 Q9H8H0 22916032 MGI:1916229 RGD:1584081 615366 HGNC:24557 "ENST00000253247.9|NM_015462.5" HGNC:28585 NOL12 nucleolar protein 12 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "MGC3731|Nop25|RRP17" 2006-06-23 2023-01-20 79159 ENSG00000273899 OTTHUMG00000150660 uc003atp.4 Z83844 NM_024313 CCDS13955 Q9UGY1 29069457 MGI:2146285 RGD:1305327 HGNC:28585 "ENST00000359114.9|NM_024313.3" -HGNC:15608 NOLC1 nucleolar and coiled-body phosphoprotein 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "P130|KIAA0035|NOPP140|NOPP130|Srp40" 2001-05-17 2023-01-20 9221 ENSG00000166197 OTTHUMG00000018944 uc001kuo.4 Z34289 NM_004741 "CCDS7530|CCDS65925|CCDS65926" Q14978 "7657714|10567578" MGI:1918019 RGD:621578 602394 HGNC:15608 "ENST00000605788.6|NM_004741.5" +HGNC:15608 NOLC1 nucleolar and coiled-body phosphoprotein 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "P130|KIAA0035|NOPP140|NOPP130|Srp40" 2001-05-17 2023-01-20 9221 ENSG00000166197 OTTHUMG00000018944 uc001kuo.4 Z34289 NM_004741 "CCDS65925|CCDS7530|CCDS65926" Q14978 "7657714|10567578" MGI:1918019 RGD:621578 602394 HGNC:15608 "ENST00000605788.6|NM_004741.5" HGNC:54890 NOLC1P1 NOLC1 pseudogene 1 pseudogene pseudogene Approved Xp22.31 Xp22.31 2020-04-17 2020-04-17 392426 ENSG00000225271 NG_022581 HGNC:13244 NOM1 nucleolar protein with MIF4G domain 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "SGD1|PPP1R113" protein phosphatase 1, regulatory subunit 113 C7orf3 chromosome 7 open reading frame 3 "Protein phosphatase 1 regulatory subunits|SSU processome|MIF4G domain containing proteins" "694|1484|2128" 2000-12-20 2005-03-30 2005-03-30 2023-01-20 64434 ENSG00000146909 OTTHUMG00000152639 uc003wmy.3 AF107455 NM_138400 CCDS34787 Q5C9Z4 10329000 MGI:1861749 RGD:1588109 611269 HGNC:13244 "ENST00000275820.4|NM_138400.2" HGNC:30060 NOMO1 NODAL modulator 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 PM5 2004-09-10 2023-01-20 23420 ENSG00000103512 OTTHUMG00000090541 uc002dcv.4 X57398 NM_014287 CCDS10556 Q15155 "1310294|15257293" MGI:2385850 609157 HGNC:30060 "ENST00000287667.12|NM_014287.4" -HGNC:22652 NOMO2 NODAL modulator 2 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "NOMO|PM5" 2004-09-10 2023-01-20 283820 ENSG00000185164 OTTHUMG00000131366 uc032dtk.2 AL512687 NM_001004060 "CCDS10570|CCDS32394" Q5JPE7 15257293 MGI:2385850 609158 HGNC:22652 "ENST00000622306.5|NM_173614.4" +HGNC:22652 NOMO2 NODAL modulator 2 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "NOMO|PM5" 2004-09-10 2023-01-20 283820 ENSG00000185164 OTTHUMG00000131366 uc032dtk.2 AL512687 NM_001004060 "CCDS32394|CCDS10570" Q5JPE7 15257293 MGI:2385850 609158 HGNC:22652 "ENST00000622306.5|NM_173614.4" HGNC:25242 NOMO3 NODAL modulator 3 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 2004-09-29 2023-01-20 408050 ENSG00000103226 OTTHUMG00000177317 uc002deq.4 AK125530 NM_001004067 CCDS42123 P69849 15257293 MGI:2385850 609159 HGNC:25242 "ENST00000399336.9|NM_001004067.4" HGNC:7871 NONO non-POU domain containing octamer binding protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "NRB54|NMT55|P54NRB|P54|PPP1R114" "Nuclear RNA-binding protein, 54-kD|non-Pou domain-containing octamer (ATGCAAAT) binding protein|protein phosphatase 1, regulatory subunit 114" non-POU-domain-containing, octamer-binding "Protein phosphatase 1 regulatory subunits|RNA binding motif containing" "694|725" 1992-02-06 2017-05-12 2023-01-20 4841 ENSG00000147140 OTTHUMG00000021798 uc004dzn.5 L14599 NM_007363 "CCDS55445|CCDS14410" Q15233 "8371983|9360842" MGI:1855692 RGD:1549738 NONO 300084 326751 HGNC:7871 "ENST00000276079.13|NM_007363.5" HGNC:7871 HGNC:42031 NONOP1 non-POU domain containing, octamer-binding pseudogene 1 pseudogene pseudogene Approved 16q22.1 16q22.1 2011-06-01 2014-11-18 644035 NG_009842 PGOHUM00000248919 HGNC:42031 HGNC:42032 NONOP2 non-POU domain containing, octamer-binding pseudogene 2 pseudogene pseudogene Approved 2p16.1 02p16.1 2011-06-01 2014-11-18 100271700 ENSG00000237522 OTTHUMG00000155384 NG_009843 PGOHUM00000240055 HGNC:42032 -HGNC:7867 NOP2 NOP2 nucleolar protein protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "NOP120|NSUN1|p120" NOP2/Sun domain family, member 1 NOL1 "nucleolar protein 1 (120kD)|nucleolar protein 1, 120kDa|nucleolar protein 2 homolog (yeast)|NOP2 nucleolar protein homolog (yeast)" NOP2/Sun RNA methyltransferase family 664 1994-02-23 2008-10-13 2012-12-10 2023-01-20 4839 ENSG00000111641 OTTHUMG00000169163 uc058kgw.1 NM_006170 "CCDS58202|CCDS58203|CCDS58204|CCDS44811" P46087 8088812 MGI:107891 RGD:1304616 164031 HGNC:7867 "ENST00000322166.10|NM_001258308.2" +HGNC:7867 NOP2 NOP2 nucleolar protein protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "NOP120|NSUN1|p120" NOP2/Sun domain family, member 1 NOL1 "nucleolar protein 1 (120kD)|nucleolar protein 1, 120kDa|nucleolar protein 2 homolog (yeast)|NOP2 nucleolar protein homolog (yeast)" NOP2/Sun RNA methyltransferase family 664 1994-02-23 2008-10-13 2012-12-10 2023-01-20 4839 ENSG00000111641 OTTHUMG00000169163 uc058kgw.1 NM_006170 "CCDS58202|CCDS44811|CCDS58204|CCDS58203" P46087 8088812 MGI:107891 RGD:1304616 164031 HGNC:7867 "ENST00000322166.10|NM_001258308.2" HGNC:19826 NOP9 NOP9 nucleolar protein protein-coding gene gene with protein product Approved 14q12 14q12 C14orf21 "chromosome 14 open reading frame 21|NOP9 nucleolar protein homolog (yeast)" "SSU processome|Armadillo like helical domain containing" "1484|1492" 2003-01-13 2012-06-06 2012-12-10 2023-01-20 161424 ENSG00000196943 OTTHUMG00000029342 uc001wol.3 NM_001286367 "CCDS66616|CCDS9624" Q86U38 21653694 MGI:1915092 RGD:1308396 618308 HGNC:19826 "ENST00000267425.8|NM_174913.3" HGNC:14378 NOP10 NOP10 ribonucleoprotein protein-coding gene gene with protein product Approved 15q14 15q14 "NOP10P|MGC70651" homolog of yeast Nop10p NOLA3 "nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)|NOP10 ribonucleoprotein homolog (yeast)" H/ACA ribonucleoprotein complex 1221 2001-02-06 2008-10-13 2012-12-10 2023-01-20 55505 ENSG00000182117 OTTHUMG00000129440 uc001zie.2 AB043103 NM_018648 CCDS10037 Q9NPE3 "11074001|9843512" MGI:1913431 RGD:1582780 LRG_345|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_345.xml 606471 159137 HGNC:14378 "ENST00000328848.6|NM_018648.4" HGNC:14378 HGNC:16821 NOP14 NOP14 nucleolar protein protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "RES4-25|UTP2" NOP14 homolog (S. cerevisiae) "C4orf9|NOL14" "chromosome 4 open reading frame 9|nucleolar protein 14|nucleolar protein 14 homolog (yeast)|NOP14 nucleolar protein homolog (yeast)" SSU processome 1484 2003-01-08 2008-10-13 2012-12-10 2023-01-20 8602 ENSG00000087269 OTTHUMG00000159911 uc003ggl.4 AB000467 NM_003703 "CCDS77893|CCDS33945" P78316 "9734812|11694595" MGI:1922666 RGD:1305605 611526 HGNC:16821 "ENST00000416614.7|NM_001291978.2" HGNC:20205 NOP14-AS1 NOP14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 RES4-24 C4orf10 "chromosome 4 open reading frame 10|NOP14 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-01-08 2012-02-24 2012-08-15 2012-10-12 317648 ENSG00000249673 OTTHUMG00000160136 uc003ggi.1 AB000465 NR_015453 9734812 NOP14-AS1 HGNC:20205 -HGNC:26934 NOP16 NOP16 nucleolar protein protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "HSPC111|HSPC185|LOC51491" "hypothetical protein HSPC111|HBV pre-S2 trans-regulated protein 3" "nucleolar protein 16 homolog (yeast)|NOP16 nucleolar protein homolog (yeast)" 2008-10-03 2012-12-10 2023-01-20 51491 ENSG00000048162 OTTHUMG00000163186 uc032vuv.2 NM_016391 "CCDS58991|CCDS78091|CCDS43403" Q9Y3C1 "10810093|11042152" MGI:107862 RGD:1305727 612861 HGNC:26934 "ENST00000614830.5|NM_016391.8" +HGNC:26934 NOP16 NOP16 nucleolar protein protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "HSPC111|HSPC185|LOC51491" "hypothetical protein HSPC111|HBV pre-S2 trans-regulated protein 3" "nucleolar protein 16 homolog (yeast)|NOP16 nucleolar protein homolog (yeast)" 2008-10-03 2012-12-10 2023-01-20 51491 ENSG00000048162 OTTHUMG00000163186 uc032vuv.2 NM_016391 "CCDS78091|CCDS43403|CCDS58991" Q9Y3C1 "10810093|11042152" MGI:107862 RGD:1305727 612861 HGNC:26934 "ENST00000614830.5|NM_016391.8" HGNC:4333 NOP53 NOP53 ribosome biogenesis factor protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "PICT-1|PICT1" GLTSCR2 glioma tumor suppressor candidate region gene 2 Ribosomal biogenesis factors 1729 2000-02-29 2017-02-28 2017-02-28 2023-01-20 29997 ENSG00000105373 OTTHUMG00000183059 uc002phm.3 AF182076 NM_015710 CCDS12705 Q9NZM5 "10708517|16971513|17657248|24120868" MGI:2154441 RGD:1303085 605691 HGNC:4333 "ENST00000246802.10|NM_015710.5" HGNC:51587 NOP53-AS1 NOP53 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 GLTSCR2-AS1 GLTSCR2 antisense RNA 1 Antisense RNAs 1987 2015-03-11 2017-02-28 2017-02-28 2017-02-28 106144593 ENSG00000269656 OTTHUMG00000183060 DB337897 NR_132382 HGNC:51587 HGNC:15911 NOP56 NOP56 ribonucleoprotein protein-coding gene gene with protein product Approved 20p13 20p13 SCA36 spinocerebellar ataxia 36 NOL5A "nucleolar protein 5A (56kD with KKE/D repeat)|nucleolar protein 5A (56kDa with KKE/D repeat)|NOP56 ribonucleoprotein homolog (yeast)" "U3 small nucleolar ribonucleoprotein|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1485|1691|1835" 2001-06-21 2009-01-13 2012-12-10 2023-01-20 10528 ENSG00000101361 OTTHUMG00000031703 uc002wgh.4 Y12065 NM_006392 CCDS13030 O00567 "9372940|21683323" MGI:1914384 RGD:1308892 614154 279649 HGNC:15911 "ENST00000329276.10|NM_006392.4" HGNC:15911 @@ -22880,18 +22882,18 @@ HGNC:29926 NOP58 NOP58 ribonucleoprotein protein-coding gene gene with protein p HGNC:28628 NOPCHAP1 NOP protein chaperone 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "MGC40397|DDSR1" DNA damage-sensitive RNA 1 C12orf45 chromosome 12 open reading frame 45 2006-01-23 2021-01-22 2021-01-22 2023-01-20 121053 ENSG00000151131 OTTHUMG00000169822 uc001tlb.4 BC032326 NM_152318 CCDS41825 Q8N5I9 "25404746|27715451|33367824" MGI:106381 RGD:1563365 HGNC:28628 "ENST00000552951.7|NM_152318.3" HGNC:44311 NORAD non-coding RNA activated by DNA damage non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 LINC00657 long intergenic non-protein coding RNA 657 Long non-coding RNAs with non-systematic symbols 1992 2012-08-09 2015-12-24 2015-12-24 2019-06-21 647979 ENSG00000260032 OTTHUMG00000175580 uc061wse.1 "AI619767|AK090641|BC011592" NR_027451 "26724866|27406171" MGI:1914767 617037 NORAD HGNC:44311 HGNC:7872 NOS1 nitric oxide synthase 1 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 nNOS NOS nitric oxide synthase 1 (neuronal) PDZ domain containing 1220 1992-06-09 2015-12-04 2023-01-20 4842 ENSG00000089250 OTTHUMG00000137376 uc001twm.3 NM_000620 "CCDS55890|CCDS41842" P29475 "1385308|7682706" MGI:97360 RGD:3184 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=NOS1 163731 426568 objectId:1251 1.14.13.39 HGNC:7872 "ENST00000317775.11|NM_000620.5" HGNC:7872 -HGNC:16859 NOS1AP nitric oxide synthase 1 adaptor protein protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "KIAA0464|CAPON" C-terminal PDZ domain ligand of neuronal nitric oxide synthase nitric oxide synthase 1 (neuronal) adaptor protein MicroRNA protein coding host genes 1691 2005-06-15 2015-12-04 2023-01-20 9722 ENSG00000198929 OTTHUMG00000024049 uc001gbv.3 AB007933 NM_014697 "CCDS53421|CCDS1237|CCDS44267" O75052 "9455484|9459447" MGI:1917979 RGD:620106 605551 289008 HGNC:16859 "ENST00000361897.10|NM_014697.3" HGNC:16859 +HGNC:16859 NOS1AP nitric oxide synthase 1 adaptor protein protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "KIAA0464|CAPON" C-terminal PDZ domain ligand of neuronal nitric oxide synthase nitric oxide synthase 1 (neuronal) adaptor protein MicroRNA protein coding host genes 1691 2005-06-15 2015-12-04 2023-01-20 9722 ENSG00000198929 OTTHUMG00000024049 uc001gbv.3 AB007933 NM_014697 "CCDS53421|CCDS44267|CCDS1237" O75052 "9455484|9459447" MGI:1917979 RGD:620106 605551 289008 HGNC:16859 "ENST00000361897.10|NM_014697.3" HGNC:16859 HGNC:7873 NOS2 nitric oxide synthase 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "iNOS|NOS|HEP-NOS" NOS2A "nitric oxide synthase 2A (inducible, hepatocytes)|nitric oxide synthase 2, inducible" 1993-06-15 2008-09-16 2015-12-04 2023-01-20 4843 ENSG00000007171 OTTHUMG00000132445 uc002gzu.4 U20141 NM_000625 CCDS11223 P35228 7682706 MGI:97361 RGD:3185 163730 objectId:1250 1.14.13.39 HGNC:7873 "ENST00000313735.11|NM_000625.4" HGNC:7873 HGNC:7875 NOS2P1 nitric oxide synthase 2 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 NOS2C "nitric oxide synthase 2C|nitric oxide synthase 2C (pseudogene)" 1995-04-13 2008-09-16 2008-09-16 2020-04-20 645740 ENSG00000265788 OTTHUMG00000179197 U18335 NG_006943 7558036 600720 PGOHUM00000237000 HGNC:7875 HGNC:7874 NOS2P2 nitric oxide synthase 2 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 NOS2B "nitric oxide synthase 2B|nitric oxide synthase 2B (pseudogene)" 1995-04-13 2008-09-16 2008-09-16 2020-04-20 201288 ENSG00000167494 OTTHUMG00000059253 U18333 NG_001568 7558036 600719 PGOHUM00000250807 HGNC:7874 HGNC:35124 NOS2P3 nitric oxide synthase 2 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2008-09-16 2014-03-20 339256 ENSG00000230528 OTTHUMG00000130731 NG_002717 11997339 PGOHUM00000237285 HGNC:35124 HGNC:50720 NOS2P4 nitric oxide synthase 2 pseudogene 4 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-06-12 2014-06-12 266619 ENSG00000264892 OTTHUMG00000179841 NG_002365 PGOHUM00000237242 HGNC:50720 -HGNC:7876 NOS3 nitric oxide synthase 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "ECNOS|eNOS" endothelial nitric oxide synthase nitric oxide synthase 3 (endothelial cell) 1993-08-23 2015-11-26 2023-01-20 4846 ENSG00000164867 OTTHUMG00000158343 uc003wif.4 NM_000603 "CCDS55183|CCDS55182|CCDS5912" P29474 1379542 MGI:97362 RGD:3186 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=NOS3 163729 470782 objectId:1249 1.14.13.39 HGNC:7876 "ENST00000297494.8|NM_000603.5" +HGNC:7876 NOS3 nitric oxide synthase 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "ECNOS|eNOS" endothelial nitric oxide synthase nitric oxide synthase 3 (endothelial cell) 1993-08-23 2015-11-26 2023-01-20 4846 ENSG00000164867 OTTHUMG00000158343 uc003wif.4 NM_000603 "CCDS55182|CCDS5912|CCDS55183" P29474 1379542 MGI:97362 RGD:3186 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=NOS3 163729 470782 objectId:1249 1.14.13.39 HGNC:7876 "ENST00000297494.8|NM_000603.5" HGNC:17946 NOSIP nitric oxide synthase interacting protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 CGI-25 "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2003-01-06 2023-01-20 51070 ENSG00000142546 OTTHUMG00000183169 uc002pol.5 AF132959 NM_001270960 "CCDS12772|CCDS86789" Q9Y314 "11149895|10810093" MGI:1913644 RGD:1309992 616759 HGNC:17946 "ENST00000596358.6|NM_001270960.2" -HGNC:20203 NOSTRIN nitric oxide synthase trafficking protein-coding gene gene with protein product Approved 2q24.3 02q24.3 MGC20702 nitric oxide synthase trafficker F-BAR domain containing 1288 2003-01-06 2013-08-05 2023-01-20 115677 ENSG00000163072 OTTHUMG00000153990 uc002ueg.4 AJ532842 NM_052946 "CCDS42771|CCDS54416|CCDS42772|CCDS54415" Q8IVI9 12446846 MGI:3606242 RGD:727920 607496 HGNC:20203 "ENST00000317647.12|NM_001039724.4" +HGNC:20203 NOSTRIN nitric oxide synthase trafficking protein-coding gene gene with protein product Approved 2q24.3 02q24.3 MGC20702 nitric oxide synthase trafficker F-BAR domain containing 1288 2003-01-06 2013-08-05 2023-01-20 115677 ENSG00000163072 OTTHUMG00000153990 uc002ueg.4 AJ532842 NM_052946 "CCDS54416|CCDS54415|CCDS42771|CCDS42772" Q8IVI9 12446846 MGI:3606242 RGD:727920 607496 HGNC:20203 "ENST00000317647.12|NM_001039724.4" HGNC:7881 NOTCH1 notch receptor 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 TAN1 "Notch (Drosophila) homolog 1 (translocation-associated)|Notch homolog 1, translocation-associated (Drosophila)|notch 1" "Notch receptors|MicroRNA protein coding host genes" "1689|1691" 1992-02-13 2019-01-03 2023-01-20 4851 ENSG00000148400 OTTHUMG00000020935 uc004chz.4 AF308602 NM_017617 CCDS43905 P46531 1831692 MGI:97363 RGD:3187 LRG_1122|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1122.xml NOTCH1 190198 123361 objectId:2861 HGNC:7881 "ENST00000651671.1|NM_017617.5" HGNC:7881 HGNC:7882 NOTCH2 notch receptor 2 protein-coding gene gene with protein product Approved 1p12 01p12 "Notch (Drosophila) homolog 2|Notch homolog 2 (Drosophila)|notch 2" Notch receptors 1689 1994-11-10 2019-01-03 2023-01-20 4853 ENSG00000134250 OTTHUMG00000012177 uc001eik.4 AF315356 NM_024408 CCDS908 Q04721 7698746 MGI:97364 RGD:3188 NOTCH2 600275 123858 objectId:2859 HGNC:7882 "ENST00000256646.7|NM_024408.4" HGNC:7882 -HGNC:31862 NOTCH2NLA notch 2 N-terminal like A protein-coding gene gene with protein product Approved 1q21.1 01q21.1 N2N NOTCH2NL "Notch homolog 2 (Drosophila) N-terminal like|notch 2 N-terminal like" 2004-12-02 2018-06-08 2018-06-08 2023-01-20 388677 ENSG00000264343 OTTHUMG00000013754 uc031uty.2 NM_203458 "CCDS72880|CCDS91035" Q7Z3S9 "14673143|29856954|29856955" 618023 HGNC:31862 "ENST00000362074.8|NM_203458.6" +HGNC:31862 NOTCH2NLA notch 2 N-terminal like A protein-coding gene gene with protein product Approved 1q21.1 01q21.1 N2N NOTCH2NL "Notch homolog 2 (Drosophila) N-terminal like|notch 2 N-terminal like" 2004-12-02 2018-06-08 2018-06-08 2023-01-20 388677 ENSG00000264343 OTTHUMG00000013754 uc031uty.2 NM_203458 "CCDS91035|CCDS72880" Q7Z3S9 "14673143|29856954|29856955" 618023 HGNC:31862 "ENST00000362074.8|NM_203458.6" HGNC:53923 NOTCH2NLB notch 2 N-terminal like B protein-coding gene gene with protein product Approved 1q21.2 01q21.2 2018-06-08 2023-01-20 100996763 ENSG00000286019 NM_001364007 CCDS86012 P0DPK3 "29856954|29856955" 618024 HGNC:53923 "ENST00000593495.4|NM_001364008.2" HGNC:53924 NOTCH2NLC notch 2 N-terminal like C protein-coding gene gene with protein product Approved 1q21.2 01q21.2 2018-06-08 2023-01-20 100996717 ENSG00000286219 NM_001364012 "CCDS91047|CCDS86015" P0DPK4 "29856954|29856955" 618025 HGNC:53924 "ENST00000650865.2|NM_001364013.2" HGNC:53925 NOTCH2NLR notch 2 N-terminal like R protein-coding gene gene with protein product Approved 1p11.2 01p11.2 notch 2 N-terminal like R (pseudogene) 2018-06-08 2022-09-16 2023-01-20 101929796 ENSG00000286106 NM_001396072 CCDS91030 A0A096LNW5 "29856954|29856955" 618026 HGNC:53925 "ENST00000624419.3|NM_001396072.1" @@ -22900,15 +22902,15 @@ HGNC:7883 NOTCH3 notch receptor 3 protein-coding gene gene with protein product HGNC:7884 NOTCH4 notch receptor 4 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 INT3 "Notch (Drosophila) homolog 4|Notch homolog 4 (Drosophila)|notch 4" Notch receptors 1689 1994-07-04 2019-01-03 2023-01-20 4855 ENSG00000204301 OTTHUMG00000031044 uc003obb.3 NM_004557 CCDS34420 Q99466 7835890 MGI:107471 RGD:1303282 164951 objectId:2862 HGNC:7884 "ENST00000375023.3|NM_004557.4" HGNC:31839 NOTO notochord homeobox protein-coding gene gene with protein product Approved 2p13.2 02p13.2 notochord homolog (Xenopus laevis) NKL subclass homeoboxes and pseudogenes 519 2004-10-29 2007-02-15 2023-01-20 344022 ENSG00000214513 OTTHUMG00000164128 uc010yrd.3 NM_001134462 CCDS46335 A8MTQ0 15231714 MGI:3053002 RGD:1562910 8552 HGNC:31839 "ENST00000398468.4|NM_001134462.2" HGNC:27106 NOTUM notum, palmitoleoyl-protein carboxylesterase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 [Wnt protein] O-palmitoleoyl-L-serine hydrolase notum pectinacetylesterase homolog (Drosophila) 2005-11-22 2017-09-13 2023-01-20 147111 ENSG00000185269 OTTHUMG00000154416 uc010wvg.3 BC060882 NM_178493 CCDS32771 Q6P988 25731175 MGI:1924833 RGD:1307119 609847 3.1.1.98 HGNC:27106 "ENST00000409678.8|NM_178493.6" -HGNC:7886 NOVA1 NOVA alternative splicing regulator 1 protein-coding gene gene with protein product Approved 14q12 14q12 NOVA-1 neuro-oncological ventral antigen 1 1998-01-16 2016-05-03 2023-01-20 4857 ENSG00000139910 OTTHUMG00000029385 uc001wpy.4 U04840 NM_006491 "CCDS32061|CCDS32060|CCDS9635" P51513 "8558240|10719891" MGI:104297 RGD:621345 602157 HGNC:7886 "ENST00000539517.7|NM_002515.3" +HGNC:7886 NOVA1 NOVA alternative splicing regulator 1 protein-coding gene gene with protein product Approved 14q12 14q12 NOVA-1 neuro-oncological ventral antigen 1 1998-01-16 2016-05-03 2023-01-20 4857 ENSG00000139910 OTTHUMG00000029385 uc001wpy.4 U04840 NM_006491 "CCDS32060|CCDS32061|CCDS9635" P51513 "8558240|10719891" MGI:104297 RGD:621345 602157 HGNC:7886 "ENST00000539517.7|NM_002515.3" HGNC:19827 NOVA1-DT NOVA1 divergent transcript non-coding RNA RNA, long non-coding Approved 14q12 14q12 "C14orf22|NOVA1-AS1|LINC02588" "chromosome 14 open reading frame 22|NOVA1 antisense RNA 1 (non-protein coding)|NOVA1 antisense RNA 1|NOVA1 antisense RNA 1 (head to head)|long intergenic non-protein coding RNA 2588" Divergent transcripts 1990 2003-01-13 2021-02-01 2021-02-01 2021-02-01 102725045 ENSG00000257842 OTTHUMG00000170389 uc059ajd.1 AI278049 NR_147061 NOVA1-AS1 HGNC:19827 HGNC:7887 NOVA2 NOVA alternative splicing regulator 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "ANOVA|NOVA-2" "neuro-oncological ventral antigen 3|astrocytic NOVA1-like" NOVA3 neuro-oncological ventral antigen 2 1998-01-16 2016-05-03 2023-01-20 4858 ENSG00000104967 OTTHUMG00000177499 uc002pdv.3 U70477 NM_002516 CCDS12679 Q9UNW9 "9344654|10368286|30829570" MGI:104296 RGD:1308032 601991 HGNC:7887 "ENST00000263257.6|NM_002516.4" HGNC:7887 -HGNC:7889 NOX1 NADPH oxidase 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "NOH1|NOH-1|MOX1|GP91-2|NOH-1L" "mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)|NADPH oxidase homolog-1" 2000-03-24 2023-01-20 27035 ENSG00000007952 OTTHUMG00000022007 uc004egj.3 AF127763 NM_007052 "CCDS14474|CCDS14475|CCDS65298" Q9Y5S8 "10485709|10615049" MGI:2450016 RGD:620598 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NOX1 300225 objectId:3001 HGNC:7889 "ENST00000372966.8|NM_007052.5" +HGNC:7889 NOX1 NADPH oxidase 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "NOH1|NOH-1|MOX1|GP91-2|NOH-1L" "mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)|NADPH oxidase homolog-1" 2000-03-24 2023-01-20 27035 ENSG00000007952 OTTHUMG00000022007 uc004egj.3 AF127763 NM_007052 "CCDS65298|CCDS14475|CCDS14474" Q9Y5S8 "10485709|10615049" MGI:2450016 RGD:620598 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NOX1 300225 objectId:3001 HGNC:7889 "ENST00000372966.8|NM_007052.5" HGNC:7890 NOX3 NADPH oxidase 3 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 GP91-3 2000-05-30 2023-01-20 50508 ENSG00000074771 OTTHUMG00000015883 uc003qqm.4 AF190122 NM_015718 CCDS5250 Q9HBY0 11376945 MGI:2681162 RGD:1303190 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=NOX3 607105 objectId:3003 HGNC:7890 "ENST00000159060.3|NM_015718.3" -HGNC:7891 NOX4 NADPH oxidase 4 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "KOX-1|KOX" 2000-05-30 2023-01-20 50507 ENSG00000086991 OTTHUMG00000167298 uc001pct.4 AF254621 NM_016931 "CCDS73361|CCDS44695|CCDS73362|CCDS8285|CCDS44696" Q9NPH5 MGI:1354184 RGD:620600 605261 objectId:3004 HGNC:7891 "ENST00000263317.9|NM_016931.5" +HGNC:7891 NOX4 NADPH oxidase 4 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "KOX-1|KOX" 2000-05-30 2023-01-20 50507 ENSG00000086991 OTTHUMG00000167298 uc001pct.4 AF254621 NM_016931 "CCDS73362|CCDS44696|CCDS8285|CCDS44695|CCDS73361" Q9NPH5 MGI:1354184 RGD:620600 605261 objectId:3004 HGNC:7891 "ENST00000263317.9|NM_016931.5" HGNC:56735 NOX4P1 NOX4 pseudogene 1 pseudogene pseudogene Approved 11p11.12 11p11.12 2023-02-01 2023-02-01 729960 ENSG00000255532 NG_009025 PGOHUM00000290915 -HGNC:14874 NOX5 NADPH oxidase 5 protein-coding gene gene with protein product Approved 15q23 15q23 "NOX5A|NOX5B" NADPH oxidase, EF-hand calcium binding domain 5 EF-hand domain containing 863 2001-03-05 2016-06-21 2023-01-20 79400 ENSG00000255346 OTTHUMG00000133320 uc002arr.3 AF317889 NM_024505 "CCDS53953|CCDS32276|CCDS53954" Q96PH1 11483596 606572 objectId:3005 HGNC:14874 "ENST00000388866.8|NM_024505.4" -HGNC:10668 NOXA1 NADPH oxidase activator 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NY-CO-31|FLJ25475" SDCCAG31 serologically defined colon cancer antigen 31 1999-08-25 2002-12-13 2002-12-09 2023-01-20 10811 ENSG00000188747 OTTHUMG00000131781 uc004cmu.4 AF039697 NM_001256067 "CCDS94544|CCDS7042|CCDS59157" Q86UR1 9610721 MGI:2449980 RGD:1306687 611255 HGNC:10668 "ENST00000683555.1|NM_001256067.2" +HGNC:14874 NOX5 NADPH oxidase 5 protein-coding gene gene with protein product Approved 15q23 15q23 "NOX5A|NOX5B" NADPH oxidase, EF-hand calcium binding domain 5 EF-hand domain containing 863 2001-03-05 2016-06-21 2023-01-20 79400 ENSG00000255346 OTTHUMG00000133320 uc002arr.3 AF317889 NM_024505 "CCDS53954|CCDS53953|CCDS32276" Q96PH1 11483596 606572 objectId:3005 HGNC:14874 "ENST00000388866.8|NM_024505.4" +HGNC:10668 NOXA1 NADPH oxidase activator 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NY-CO-31|FLJ25475" SDCCAG31 serologically defined colon cancer antigen 31 1999-08-25 2002-12-13 2002-12-09 2023-01-20 10811 ENSG00000188747 OTTHUMG00000131781 uc004cmu.4 AF039697 NM_001256067 "CCDS94544|CCDS59157|CCDS7042" Q86UR1 9610721 MGI:2449980 RGD:1306687 611255 HGNC:10668 "ENST00000683555.1|NM_001256067.2" HGNC:19404 NOXO1 NADPH oxidase organizer 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "P41NOXA|P41NOXB|P41NOXC|SH3PXD5|SNX28" 2002-12-09 2023-01-20 124056 ENSG00000196408 OTTHUMG00000128707 uc002cnx.5 AF532985 NM_001267721 Q8NFA2 MGI:1919143 RGD:1307802 611256 HGNC:19404 "ENST00000356120.9|NM_172167.3" HGNC:20487 NOXRED1 NADP dependent oxidoreductase domain containing 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ32809 C14orf148 chromosome 14 open reading frame 148 2004-06-11 2011-09-30 2016-06-08 2023-03-15 122945 ENSG00000165555 OTTHUMG00000171554 uc001xtr.4 AK057371 NM_138791 CCDS45142 Q6NXP6 MGI:1918525 RGD:1589353 HGNC:20487 "ENST00000380835.7|NM_001113475.3" HGNC:1190 NPAP1 nuclear pore associated protein 1 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 C15orf2 chromosome 15 open reading frame 2 1999-10-22 2012-06-14 2012-06-14 2023-01-20 23742 ENSG00000185823 OTTHUMG00000129179 uc001ywo.4 AF179681 NM_018958 CCDS10015 Q9NZP6 "10783265|22694955" 610922 HGNC:1190 "ENST00000329468.5|NM_018958.3" @@ -22925,39 +22927,39 @@ HGNC:56659 NPAP1P9 nuclear pore associated protein 1 pseudogene 9 pseudogene pse HGNC:7894 NPAS1 neuronal PAS domain protein 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "MOP5|PASD5|bHLHe11" "neuronal PAS1|member of PAS superfamily 5" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1998-05-29 2023-01-20 4861 ENSG00000130751 OTTHUMG00000183440 uc002pfw.4 U77968 NM_002517 "CCDS82371|CCDS12694" Q99742 "9012850|9079689" MGI:109205 RGD:1310040 603346 HGNC:7894 "ENST00000602212.6|NM_002517.4" HGNC:7895 NPAS2 neuronal PAS domain protein 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "MOP4|PASD4|bHLHe9" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1998-05-29 2023-01-20 4862 ENSG00000170485 OTTHUMG00000130675 uc002tap.2 U77970 NM_002518 CCDS2048 Q99743 "9012850|9079689" MGI:109232 RGD:1309681 603347 HGNC:7895 "ENST00000335681.10|NM_002518.4" HGNC:40408 NPAS2-AS1 NPAS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 Antisense RNAs 1987 2019-08-16 2019-08-16 101927142 ENSG00000230140 OTTHUMG00000153028 NR_110213 HGNC:40408 -HGNC:19311 NPAS3 neuronal PAS domain protein 3 protein-coding gene gene with protein product Approved 14q13.1 14q13.1 "MOP6|PASD6|bHLHe12" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2002-11-05 2023-01-20 64067 ENSG00000151322 OTTHUMG00000140215 uc001wrt.4 AF164438 NM_001164749 "CCDS55912|CCDS53891|CCDS53892|CCDS9645" Q8IXF0 MGI:1351610 RGD:1307181 609430 HGNC:19311 "ENST00000356141.9|NM_001164749.2" +HGNC:19311 NPAS3 neuronal PAS domain protein 3 protein-coding gene gene with protein product Approved 14q13.1 14q13.1 "MOP6|PASD6|bHLHe12" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2002-11-05 2023-01-20 64067 ENSG00000151322 OTTHUMG00000140215 uc001wrt.4 AF164438 NM_001164749 "CCDS55912|CCDS53892|CCDS9645|CCDS53891" Q8IXF0 MGI:1351610 RGD:1307181 609430 HGNC:19311 "ENST00000356141.9|NM_001164749.2" HGNC:18983 NPAS4 neuronal PAS domain protein 4 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "PASD10|NXF|Le-PAS|bHLHe79" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2005-09-26 2023-01-20 266743 ENSG00000174576 OTTHUMG00000167045 uc001ohx.2 AB049469 NM_178864 CCDS8138 Q8IUM7 14701734 MGI:2664186 RGD:628866 608554 HGNC:18983 "ENST00000311034.7|NM_178864.4" HGNC:7896 NPAT nuclear protein, coactivator of histone transcription protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "E14|p220" nuclear protein, ataxia-telangiectasia locus 1998-01-20 2016-05-24 2023-01-20 4863 ENSG00000149308 OTTHUMG00000166385 uc001pjz.6 X97186 NM_002519 CCDS41710 Q14207 "10995387|9205109" MGI:107605 RGD:1311947 601448 HGNC:7896 "ENST00000278612.9|NM_002519.3" HGNC:30099 NPB neuropeptide B protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "PPL7|PPNPB" prepro-NPB Neuropeptides 1902 2005-11-14 2023-01-20 256933 ENSG00000183979 OTTHUMG00000177983 uc002kcd.4 NM_148896 CCDS11790 Q8NG41 "12118011|12401809" MGI:2387153 RGD:708513 607996 ligandId:1500 HGNC:30099 "ENST00000333383.8|NM_148896.5" HGNC:4522 NPBWR1 neuropeptides B and W receptor 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 GPR7 "G protein-coupled receptor 7|neuropeptides B/W receptor 1" Neuropeptides B and W receptors 242 1994-07-25 2006-02-15 2016-12-21 2023-01-20 2831 ENSG00000288611 OTTHUMG00000164275 uc011ldu.3 BC033145 NM_005285 CCDS6151 P48145 "7590751|12401809" MGI:891989 RGD:1305917 600730 objectId:303 HGNC:4522 "ENST00000674939.1|NM_005285.5" HGNC:4530 NPBWR2 neuropeptides B and W receptor 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 GPR8 "G protein-coupled receptor 8|neuropeptides B/W receptor 2" Neuropeptides B and W receptors 242 1994-07-25 2006-02-15 2016-12-21 2023-01-20 2832 ENSG00000125522 OTTHUMG00000033032 uc011abt.3 U22492 NM_005286 CCDS13557 P48146 12401809 600731 objectId:304 HGNC:4530 "ENST00000684052.1|NM_005286.4" HGNC:7897 NPC1 NPC intracellular cholesterol transporter 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 SLC65A1 Niemann-Pick disease, type C1 Solute carrier family 65, NPC-type cholesterol transporters 2214 1993-04-13 2016-05-03 2023-03-14 4864 ENSG00000141458 OTTHUMG00000131873 uc002kum.5 AF002020 NM_000271 CCDS11878 O15118 8446622 MGI:1097712 RGD:628693 607623 SLC65A1 123868 objectId:3051 HGNC:7897 "ENST00000269228.10|NM_000271.5" HGNC:7897 -HGNC:7898 NPC1L1 NPC1 like intracellular cholesterol transporter 1 protein-coding gene gene with protein product Approved 7p13 07p13 SLC65A2 "NPC1 (Niemann-Pick disease, type C1, gene)-like 1|NPC1-like 1|NPC1 like 1" Solute carrier family 65, NPC-type cholesterol transporters 2214 2000-02-29 2016-05-03 2023-03-14 29881 ENSG00000015520 OTTHUMG00000023691 uc003tlb.4 NM_013389 "CCDS75587|CCDS43575|CCDS5491" Q9UHC9 10783261 MGI:2685089 RGD:1303135 608010 SLC65A2 421441 objectId:2629 HGNC:7898 "ENST00000381160.8|NM_001101648.2" -HGNC:14537 NPC2 NPC intracellular cholesterol transporter 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "HE1|NP-C2|EDDM1" epididymal protein 1 Niemann-Pick disease, type C2 "MicroRNA protein coding host genes|MD-2 related lipid recognition domain containing" "1691|2129" 2001-05-11 2016-05-03 2023-01-20 10577 ENSG00000119655 OTTHUMG00000171212 uc010tus.3 X67698 NM_006432 "CCDS91904|CCDS32121|CCDS86413" P61916 "8418812|11125141" MGI:1915213 RGD:628756 601015 123870 HGNC:14537 "ENST00000555619.6|NM_006432.5" HGNC:14537 +HGNC:7898 NPC1L1 NPC1 like intracellular cholesterol transporter 1 protein-coding gene gene with protein product Approved 7p13 07p13 SLC65A2 "NPC1 (Niemann-Pick disease, type C1, gene)-like 1|NPC1-like 1|NPC1 like 1" Solute carrier family 65, NPC-type cholesterol transporters 2214 2000-02-29 2016-05-03 2023-03-14 29881 ENSG00000015520 OTTHUMG00000023691 uc003tlb.4 NM_013389 "CCDS5491|CCDS75587|CCDS43575" Q9UHC9 10783261 MGI:2685089 RGD:1303135 608010 SLC65A2 421441 objectId:2629 HGNC:7898 "ENST00000381160.8|NM_001101648.2" +HGNC:14537 NPC2 NPC intracellular cholesterol transporter 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "HE1|NP-C2|EDDM1" epididymal protein 1 Niemann-Pick disease, type C2 "MicroRNA protein coding host genes|MD-2 related lipid recognition domain containing" "1691|2129" 2001-05-11 2016-05-03 2023-01-20 10577 ENSG00000119655 OTTHUMG00000171212 uc010tus.3 X67698 NM_006432 "CCDS32121|CCDS91904|CCDS86413" P61916 "8418812|11125141" MGI:1915213 RGD:628756 601015 123870 HGNC:14537 "ENST00000555619.6|NM_006432.5" HGNC:14537 HGNC:7899 NPDC1 neural proliferation, differentiation and control 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "DKFZp586J0523|CAB-|CAB1" 2000-08-11 2016-06-15 2023-01-20 56654 ENSG00000107281 OTTHUMG00000020956 uc004ckt.3 AF285836 NM_015392 CCDS7024 Q9NQX5 11245976 MGI:1099802 RGD:1303156 605798 HGNC:7899 "ENST00000371601.5|NM_015392.4" -HGNC:16244 NPEPL1 aminopeptidase like 1 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "FLJ11583|bA261P9.2" Aminopeptidases 104 2001-07-17 2017-06-13 2023-01-20 79716 ENSG00000215440 OTTHUMG00000033060 uc010zzs.2 AK021645 NM_024663 "CCDS46621|CCDS56200|CCDS56201" Q8NDH3 14702039 MGI:2448523 RGD:1311351 M17.006 objectId:1563 HGNC:16244 "ENST00000356091.11|NM_024663.4" -HGNC:7900 NPEPPS aminopeptidase puromycin sensitive protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "PSA|MP100" "puromycin-sensitive aminopeptidase|metalloproteinase MP100" "Aminopeptidases|M1 metallopeptidases" "104|1437" 1999-12-09 2023-01-20 9520 ENSG00000141279 OTTHUMG00000165471 uc002ilr.5 Y07701 NM_006310 "CCDS92355|CCDS45721|CCDS82149" P55786 "9048733|10329370" MGI:1101358 RGD:619962 606793 M01.010 objectId:1575 3.4.11.2 HGNC:7900 "ENST00000322157.9|NM_006310.4" +HGNC:16244 NPEPL1 aminopeptidase like 1 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "FLJ11583|bA261P9.2" Aminopeptidases 104 2001-07-17 2017-06-13 2023-01-20 79716 ENSG00000215440 OTTHUMG00000033060 uc010zzs.2 AK021645 NM_024663 "CCDS46621|CCDS56201|CCDS56200" Q8NDH3 14702039 MGI:2448523 RGD:1311351 M17.006 objectId:1563 HGNC:16244 "ENST00000356091.11|NM_024663.4" +HGNC:7900 NPEPPS aminopeptidase puromycin sensitive protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "PSA|MP100" "puromycin-sensitive aminopeptidase|metalloproteinase MP100" "Aminopeptidases|M1 metallopeptidases" "104|1437" 1999-12-09 2023-01-20 9520 ENSG00000141279 OTTHUMG00000165471 uc002ilr.5 Y07701 NM_006310 "CCDS45721|CCDS92355|CCDS82149" P55786 "9048733|10329370" MGI:1101358 RGD:619962 606793 M01.010 objectId:1575 3.4.11.2 HGNC:7900 "ENST00000322157.9|NM_006310.4" HGNC:44259 NPEPPSP1 NPEPPS pseudogene 1 pseudogene pseudogene Approved 17q12 17q12 2019-08-27 2019-08-27 440434 ENSG00000274487 OTTHUMG00000188488 NR_036750 HGNC:44259 HGNC:56399 NPEPPSP2 NPEPPS pseudogene 2 pseudogene pseudogene Approved 3p24.3 03p24.3 2022-10-18 2022-10-18 2022-10-18 2022-10-18 127379737 ENSG00000233133 PGOHUM00000298962 HGNC:7901 NPFF neuropeptide FF-amide peptide precursor protein-coding gene gene with protein product Approved 12q13.13 12q13.13 FMRFAL Neuropeptides 1902 1999-09-07 2023-01-20 8620 ENSG00000139574 OTTHUMG00000169856 uc001sdw.1 AF005271 NM_003717 CCDS8862 O15130 9224703 MGI:1891708 RGD:62033 604643 ligandId:3735 HGNC:7901 "ENST00000267017.4|NM_003717.4" HGNC:17425 NPFFR1 neuropeptide FF receptor 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "OT7T022|NPFF1R1" neuropeptide FF 1 GPR147 G protein-coupled receptor 147 Neuropeptide FF receptors 240 2004-05-27 2006-02-15 2006-02-15 2023-01-20 64106 ENSG00000148734 OTTHUMG00000018404 uc021psj.2 AB040104 NM_022146 CCDS53539 Q9GZQ6 11024015 MGI:2685082 RGD:621570 607448 objectId:300 HGNC:17425 "ENST00000277942.7|NM_022146.5" HGNC:4525 NPFFR2 neuropeptide FF receptor 2 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "NPFF2|NPGPR" neuropeptide FF 2 GPR74 G protein-coupled receptor 74 Neuropeptide FF receptors 240 1999-07-30 2006-02-15 2006-02-15 2023-01-20 10886 ENSG00000056291 OTTHUMG00000129918 uc003hgh.3 AF236083 NM_004885 "CCDS47072|CCDS3552" Q9Y5X5 "10079187|10851242" MGI:1860130 RGD:620168 607449 objectId:301 HGNC:4525 "ENST00000308744.12|NM_004885.3" -HGNC:7905 NPHP1 nephrocystin 1 protein-coding gene gene with protein product Approved 2q13 02q13 "JBTS4|SLSN1" NPH1 nephronophthisis 1 (juvenile) NPHP complex 1546 1991-08-08 2016-05-16 2023-01-20 4867 ENSG00000144061 OTTHUMG00000131195 uc002tfl.6 AF023674 NM_000272 "CCDS46386|CCDS2086|CCDS46385|CCDS46384" O15259 MGI:1858233 RGD:1308136 607100 123874 HGNC:7905 "ENST00000445609.7|NM_001128178.3" HGNC:7905 +HGNC:7905 NPHP1 nephrocystin 1 protein-coding gene gene with protein product Approved 2q13 02q13 "JBTS4|SLSN1" NPH1 nephronophthisis 1 (juvenile) NPHP complex 1546 1991-08-08 2016-05-16 2023-01-20 4867 ENSG00000144061 OTTHUMG00000131195 uc002tfl.6 AF023674 NM_000272 "CCDS2086|CCDS46385|CCDS46384|CCDS46386" O15259 MGI:1858233 RGD:1308136 607100 123874 HGNC:7905 "ENST00000445609.7|NM_001128178.3" HGNC:7905 HGNC:7907 NPHP3 nephrocystin 3 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "NPH3|KIAA2000|FLJ30691|FLJ36696|MKS7|SLSN3|CFAP31" "Meckel syndrome, type 7|cilia and flagella associated protein 31" nephronophthisis 3 (adolescent) "Tetratricopeptide repeat domain containing|Cilia and flagella associated" "769|1491" 2000-01-20 2016-05-16 2023-01-20 27031 ENSG00000113971 OTTHUMG00000159713 uc003epe.3 AB056657 NM_153240 CCDS3078 Q7Z494 "12872122|15381417" MGI:1921275 RGD:1563856 608002 123878 HGNC:7907 "ENST00000337331.10|NM_153240.5" HGNC:7907 HGNC:48351 NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) other readthrough Approved 3q22.1 03q22.1 2013-09-30 2015-01-08 100532724 ENSG00000274810 OTTHUMG00000187276 NR_037804 HGNC:48351 HGNC:24129 NPHP3-AS1 NPHP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q22.1 03q22.1 NCRNA00119 "non-protein coding RNA 119|NPHP3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-09-12 2011-08-11 2012-08-15 2014-11-19 348808 ENSG00000248724 OTTHUMG00000159854 uc003epg.2 BC048124 NR_002811 12477932 NPHP3-AS1 HGNC:24129 HGNC:19104 NPHP4 nephrocystin 4 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "SLSN4|KIAA0673|POC10" "nephroretinin|POC10 centriolar protein homolog (Chlamydomonas)" nephronophthisis 4 NPHP complex 1546 2002-10-03 2016-05-16 2023-01-20 261734 ENSG00000131697 OTTHUMG00000000701 uc001alq.3 AB014573 NM_001291593 CCDS44052 O75161 "11920287|12205563" MGI:2384210 RGD:1560172 607215 123884 HGNC:19104 "ENST00000378156.9|NM_015102.5" HGNC:19104 HGNC:7908 NPHS1 NPHS1 adhesion molecule, nephrin protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "CNF|NPHN" "nephrosis 1, congenital, Finnish type (nephrin)|NPHS1, nephrin" "Fibronectin type III domain containing|V-set domain containing|C2-set domain containing" "555|590|592" 1994-12-14 2019-01-25 2023-01-20 4868 ENSG00000161270 OTTHUMG00000180689 uc002oby.4 NM_004646 CCDS32996 O60500 "9915943|9660941" MGI:1859637 LRG_693|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_693.xml 602716 123889 HGNC:7908 "ENST00000378910.10|NM_004646.4" HGNC:7908 -HGNC:13394 NPHS2 NPHS2 stomatin family member, podocin protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "SRN1|PDCN" "nephrosis 2, idiopathic, steroid-resistant (podocin)|NPHS2, podocin" Stomatin family 1734 2000-11-21 2019-01-25 2023-01-20 7827 ENSG00000116218 OTTHUMG00000035252 uc001gmq.5 AJ279254 NM_001297575 "CCDS72988|CCDS1331" Q9NP85 "8589695|10742096" MGI:2157018 RGD:620461 LRG_887|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_887.xml 604766 123893 HGNC:13394 "ENST00000367615.9|NM_014625.4" HGNC:13394 +HGNC:13394 NPHS2 NPHS2 stomatin family member, podocin protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "SRN1|PDCN" "nephrosis 2, idiopathic, steroid-resistant (podocin)|NPHS2, podocin" Stomatin family 1734 2000-11-21 2019-01-25 2023-01-20 7827 ENSG00000116218 OTTHUMG00000035252 uc001gmq.5 AJ279254 NM_001297575 "CCDS1331|CCDS72988" Q9NP85 "8589695|10742096" MGI:2157018 RGD:620461 LRG_887|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_887.xml 604766 123893 HGNC:13394 "ENST00000367615.9|NM_014625.4" HGNC:13394 HGNC:7909 NPIPA1 nuclear pore complex interacting protein family member A1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 morpheus NPIP "nuclear pore complex interacting protein|nuclear pore complex interacting protein family, member A1" 1999-03-09 2013-06-11 2015-11-18 2023-01-20 9284 ENSG00000183426 OTTHUMG00000090663 AC002045 NM_006985 CCDS10557 Q9UND3 "11586358|18055785" 606406 HGNC:7909 "ENST00000328085.10|NM_006985.4" HGNC:41979 NPIPA2 nuclear pore complex interacting protein family member A2 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 nuclear pore complex interacting protein family, member A2 2013-06-11 2015-11-18 2023-01-20 642799 ENSG00000254852 OTTHUMG00000166264 NM_001277324 "CCDS92115|CCDS59263" E9PIF3 HGNC:41979 "ENST00000529166.6|NM_001395485.2" HGNC:41978 NPIPA3 nuclear pore complex interacting protein family member A3 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 nuclear pore complex interacting protein family, member A3 2013-06-11 2015-11-18 2023-01-20 642778 ENSG00000224712 OTTHUMG00000166262 NM_001277323 "CCDS59262|CCDS92114" F8WFD2 HGNC:41978 "ENST00000531598.7|NM_001395487.1" -HGNC:41980 NPIPA5 nuclear pore complex interacting protein family member A5 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 nuclear pore complex interacting protein family, member A5 2013-06-11 2015-11-18 2023-01-20 100288332 ENSG00000183793 OTTHUMG00000166305 NM_001277325 "CCDS59264|CCDS86506" E9PKD4 HGNC:41980 "ENST00000360151.9|NM_001277325.2" +HGNC:41980 NPIPA5 nuclear pore complex interacting protein family member A5 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 nuclear pore complex interacting protein family, member A5 2013-06-11 2015-11-18 2023-01-20 100288332 ENSG00000183793 OTTHUMG00000166305 NM_001277325 "CCDS86506|CCDS59264" E9PKD4 HGNC:41980 "ENST00000360151.9|NM_001277325.2" HGNC:41982 NPIPA7 nuclear pore complex interacting protein family member A7 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 nuclear pore complex interacting protein family, member A7 2013-06-11 2015-11-18 2023-01-20 101059938 ENSG00000214967 OTTHUMG00000166307 NM_001282507 CCDS61864 E9PJI5 HGNC:41982 "ENST00000530217.3|NM_001282507.2" HGNC:41983 NPIPA8 nuclear pore complex interacting protein family member A8 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 LCR16a9 morpheus gene family member 9 nuclear pore complex interacting protein family, member A8 2013-06-11 2015-11-18 2023-01-20 101059953 ENSG00000214940 OTTHUMG00000166284 NM_001282511 CCDS61865 P0DM63 11586358 HGNC:41983 "ENST00000525596.6|NM_001282511.3" HGNC:41984 NPIPA9 nuclear pore complex interacting protein family, member A9 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 2018-08-03 2023-01-20 105376752 ENSG00000233024 OTTHUMG00000166286 NM_001401710 CCDS92118 A0A0B4J1W7 HGNC:41984 HGNC:37452 NPIPB1P nuclear pore complex interacting protein family member B1, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 nuclear pore complex interacting protein family, member B1, pseudogene 2013-06-11 2015-11-18 2015-11-18 729602 ENSG00000257513 OTTHUMG00000170512 NG_023368 PGOHUM00000259246 HGNC:37452 -HGNC:37451 NPIPB2 nuclear pore complex interacting protein family member B2 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 2016-09-26 2019-08-21 2023-01-20 729978 ENSG00000234719 OTTHUMG00000166261 NM_001355514 "CCDS92109|CCDS92110" A6NJ64 HGNC:37451 "ENST00000399147.8|NM_001396485.1" +HGNC:37451 NPIPB2 nuclear pore complex interacting protein family member B2 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 2016-09-26 2019-08-21 2023-01-20 729978 ENSG00000234719 OTTHUMG00000166261 NM_001355514 "CCDS92110|CCDS92109" A6NJ64 HGNC:37451 "ENST00000399147.8|NM_001396485.1" HGNC:28989 NPIPB3 nuclear pore complex interacting protein family member B3 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 KIAA0220 NPIPL3 "nuclear pore complex interacting protein-like 3|nuclear pore complex interacting protein family, member B3" 2009-03-26 2013-06-11 2015-11-18 2015-11-18 23117 ENSG00000169246 OTTHUMG00000163506 NM_130464 Q92617 11948212 619984 HGNC:28989 HGNC:41985 NPIPB4 nuclear pore complex interacting protein family member B4 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 nuclear pore complex interacting protein family, member B4 2013-06-11 2015-11-18 2023-01-20 440345 ENSG00000185864 OTTHUMG00000163555 NM_001310148 CCDS92123 C9JG80 HGNC:41985 "ENST00000682606.1|NM_001384980.1" HGNC:37233 NPIPB5 nuclear pore complex interacting protein family member B5 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 nuclear pore complex interacting protein family, member B5 2013-06-11 2015-11-18 2023-01-20 100132247 ENSG00000243716 OTTHUMG00000163573 NM_001135865 CCDS45443 A8MRT5 HGNC:37233 "ENST00000424340.7|NM_001395849.1" @@ -22972,10 +22974,10 @@ HGNC:41989 NPIPB13 nuclear pore complex interacting protein family, member B13 p HGNC:41990 NPIPB14P nuclear pore complex interacting protein family member B14, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 2016-09-26 2017-02-27 2017-02-27 109729168 ENSG00000226232 OTTHUMG00000167594 NG_052915 PGOHUM00000293639 HGNC:41990 HGNC:34409 NPIPB15 nuclear pore complex interacting protein family member B15 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 LOC440348 NPIPL2 "nuclear pore complex interacting protein-like 2|nuclear pore complex interacting protein family, member B15" 2009-02-10 2013-06-11 2015-11-18 2023-03-15 440348 ENSG00000196436 OTTHUMG00000156916 BC160029 NM_001018059 CCDS76897 A6NHN6 HGNC:34409 "ENST00000692376.1|NM_001306094.2" HGNC:35407 NPIPP1 nuclear pore complex interacting protein pseudogene 1 pseudogene pseudogene Approved 16p13.11 16p13.11 2009-07-07 2020-04-20 100874381 ENSG00000188599 OTTHUMG00000184230 NG_032198 PGOHUM00000293434 HGNC:35407 -HGNC:16781 NPL N-acetylneuraminate pyruvate lyase protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "NPL1|DHDPS1" dihydrodipicolinate synthetase homolog 1 (E. coli) C1orf13 "chromosome 1 open reading frame 13|N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)" 2001-10-05 2003-09-17 2016-06-03 2023-01-20 80896 ENSG00000135838 OTTHUMG00000035321 uc057nuk.1 AF338436 NM_030769 "CCDS1350|CCDS55666|CCDS55667|CCDS72990" Q9BXD5 11318611 MGI:1921341 RGD:1549702 611412 4.1.3.3 HGNC:16781 "ENST00000367553.6|NM_030769.3" +HGNC:16781 NPL N-acetylneuraminate pyruvate lyase protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "NPL1|DHDPS1" dihydrodipicolinate synthetase homolog 1 (E. coli) C1orf13 "chromosome 1 open reading frame 13|N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)" 2001-10-05 2003-09-17 2016-06-03 2023-01-20 80896 ENSG00000135838 OTTHUMG00000035321 uc057nuk.1 AF338436 NM_030769 "CCDS55667|CCDS72990|CCDS1350|CCDS55666" Q9BXD5 11318611 MGI:1921341 RGD:1549702 611412 4.1.3.3 HGNC:16781 "ENST00000367553.6|NM_030769.3" HGNC:18261 NPLOC4 NPL4 homolog, ubiquitin recognition factor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "NPL4|FLJ20657|KIAA1499" "nuclear protein localization 4 homolog (S. cerevisiae)|NPLOC4 ubiquitin recognition factor" Zinc fingers RANBP2-type 89 2006-01-25 2015-07-02 2023-01-20 55666 ENSG00000182446 OTTHUMG00000177990 uc002kat.5 AB040932 NM_017921 CCDS45812 Q8TAT6 "11574150|10811609|24429874" MGI:2679787 RGD:620794 606590 HGNC:18261 "ENST00000331134.11|NM_017921.4" HGNC:54747 NPLP1 NPL pseudogene 1 pseudogene pseudogene Approved 2p22.1 02p22.1 2019-12-19 2019-12-19 100529111 ENSG00000232114 NG_028076 -HGNC:7910 NPM1 nucleophosmin 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "B23|NPM" "nucleolar phosphoprotein B23|numatrin|nucleophosmin/nucleoplasmin family, member 1" "nucleophosmin (nucleolar phosphoprotein B23, numatrin)|nucleophosmin" 1993-08-24 2017-07-07 2023-01-20 4869 ENSG00000181163 OTTHUMG00000130465 uc032vtc.2 M26697 NM_002520 "CCDS43399|CCDS4376|CCDS4377|CCDS93824" P06748 "8471164|8122112" MGI:106184 RGD:3192 LRG_458|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_458.xml NPM1 164040 159793 HGNC:7910 "ENST00000296930.10|NM_002520.7" HGNC:7910 +HGNC:7910 NPM1 nucleophosmin 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "B23|NPM" "nucleolar phosphoprotein B23|numatrin|nucleophosmin/nucleoplasmin family, member 1" "nucleophosmin (nucleolar phosphoprotein B23, numatrin)|nucleophosmin" 1993-08-24 2017-07-07 2023-01-20 4869 ENSG00000181163 OTTHUMG00000130465 uc032vtc.2 M26697 NM_002520 "CCDS4377|CCDS43399|CCDS93824|CCDS4376" P06748 "8471164|8122112" MGI:106184 RGD:3192 LRG_458|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_458.xml NPM1 164040 159793 HGNC:7910 "ENST00000296930.10|NM_002520.7" HGNC:7910 HGNC:7911 NPM1P1 nucleophosmin 1 pseudogene 1 pseudogene pseudogene Approved 18q12.3 18q12.3 NG1-1.6 NPMP1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 1 1993-08-24 2016-06-27 2018-12-14 4870 ENSG00000267652 OTTHUMG00000178311 L15315 NG_001162 8471164 PGOHUM00000234923 HGNC:7911 HGNC:7922 NPM1P2 nucleophosmin 1 pseudogene 2 pseudogene pseudogene Approved 18q11.2 18q11.2 NG2-6 NPMP2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 2 1993-08-24 2016-06-27 2017-10-26 4871 ENSG00000266227 OTTHUMG00000179428 X54171 NG_009868 "8471164|2157848" PGOHUM00000294755 HGNC:7922 HGNC:7923 NPM1P3 nucleophosmin 1 pseudogene 3 pseudogene pseudogene Approved 16p13.3 16p13.3 NG3-3 "NPMP3|NPM1P15" "nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 15|nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 3" 1993-08-24 2016-06-27 2020-04-07 4872 ENSG00000261007 OTTHUMG00000177114 L15316 NG_001163 8471164 PGOHUM00000248978 HGNC:7923 @@ -23026,22 +23028,22 @@ HGNC:45228 NPM1P49 nucleophosmin 1 pseudogene 49 pseudogene pseudogene Approved HGNC:45229 NPM1P50 nucleophosmin 1 pseudogene 50 pseudogene pseudogene Approved 11q13.4 11q13.4 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 50 2013-03-07 2016-06-27 2016-06-27 100129795 ENSG00000213333 OTTHUMG00000165369 NG_030170 PGOHUM00000242370 HGNC:45229 HGNC:45230 NPM1P51 nucleophosmin 1 pseudogene 51 pseudogene pseudogene Approved 6p21.1 06p21.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 51 2013-03-07 2016-06-27 2016-06-27 100130606 ENSG00000230913 OTTHUMG00000014682 NG_022355 PGOHUM00000243622 HGNC:45230 HGNC:45231 NPM1P52 nucleophosmin 1 pseudogene 52 pseudogene pseudogene Approved 8q22.3 08q22.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 52 2013-03-07 2016-06-27 2016-06-27 100422272 ENSG00000253663 OTTHUMG00000164762 NG_026123 PGOHUM00000249762 HGNC:45231 -HGNC:7930 NPM2 nucleophosmin/nucleoplasmin 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 1999-05-28 2009-08-27 2023-01-20 10361 ENSG00000158806 OTTHUMG00000131129 uc003xad.5 AY262113 NM_182795 "CCDS6018|CCDS75703" Q86SE8 12714744 MGI:1890811 RGD:727816 608073 HGNC:7930 "ENST00000518119.6|NM_001286680.2" +HGNC:7930 NPM2 nucleophosmin/nucleoplasmin 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 1999-05-28 2009-08-27 2023-01-20 10361 ENSG00000158806 OTTHUMG00000131129 uc003xad.5 AY262113 NM_182795 "CCDS75703|CCDS6018" Q86SE8 12714744 MGI:1890811 RGD:727816 608073 HGNC:7930 "ENST00000518119.6|NM_001286680.2" HGNC:7931 NPM3 nucleophosmin/nucleoplasmin 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 1999-05-28 2009-08-27 2023-01-20 10360 ENSG00000107833 OTTHUMG00000018942 uc001ktt.3 AY049737 NM_006993 CCDS7519 O75607 11722795 MGI:894653 RGD:1565542 606456 HGNC:7931 "ENST00000370110.6|NM_006993.3" -HGNC:27405 NPNT nephronectin protein-coding gene gene with protein product Approved 4q24 04q24 "EGFL6L|POEM" 2005-10-07 2023-01-20 255743 ENSG00000168743 OTTHUMG00000161189 uc003hya.4 NM_198278 "CCDS54787|CCDS34046|CCDS54784|CCDS54785|CCDS54786" Q6UXI9 15754038 MGI:2148811 RGD:1593709 610306 HGNC:27405 "ENST00000379987.7|NM_001033047.3" +HGNC:27405 NPNT nephronectin protein-coding gene gene with protein product Approved 4q24 04q24 "EGFL6L|POEM" 2005-10-07 2023-01-20 255743 ENSG00000168743 OTTHUMG00000161189 uc003hya.4 NM_198278 "CCDS34046|CCDS54787|CCDS54785|CCDS54784|CCDS54786" Q6UXI9 15754038 MGI:2148811 RGD:1593709 610306 HGNC:27405 "ENST00000379987.7|NM_001033047.3" HGNC:7939 NPPA natriuretic peptide A protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "ANP|PND" natriuretic peptide precursor A Neuropeptides 1902 1986-01-01 2010-11-09 2023-01-20 4878 ENSG00000175206 OTTHUMG00000002388 uc001ati.4 BC005893 NM_006172 CCDS139 P01160 MGI:97367 RGD:3193 LRG_751|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_751.xml 108780 205584 ligandId:4869 HGNC:7939 "ENST00000376480.7|NM_006172.4" HGNC:7939 HGNC:37635 NPPA-AS1 NPPA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 "NPPAAS|NPPA-AS" "NPPA antisense RNA (non-protein coding)|NPPA antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-11-27 2010-11-25 2012-08-15 2012-10-12 100379251 ENSG00000242349 OTTHUMG00000002377 uc057cib.1 NR_037806 19671135 NPPA-AS1 HGNC:37635 HGNC:7940 NPPB natriuretic peptide B protein-coding gene gene with protein product Approved 1p36.22 01p36.22 natriuretic peptide precursor B Neuropeptides 1902 1993-11-30 2010-11-09 2023-01-20 4879 ENSG00000120937 OTTHUMG00000002389 uc001atj.4 BC025785 NM_002521 CCDS140 P16860 2597152 MGI:97368 RGD:3194 600295 ligandId:4890 HGNC:7940 "ENST00000376468.4|NM_002521.3" HGNC:7941 NPPC natriuretic peptide C protein-coding gene gene with protein product Approved 2q37.1 02q37.1 CNP natriuretic peptide precursor C Neuropeptides 1902 1993-11-30 2010-11-09 2023-01-20 4880 ENSG00000163273 OTTHUMG00000133232 uc002vsl.3 NM_024409 CCDS2489 P23582 "7698765|8330189" MGI:97369 RGD:620850 600296 ligandId:4896 HGNC:7941 "ENST00000409852.2|NM_024409.4" HGNC:7941 HGNC:7943 NPR1 natriuretic peptide receptor 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "GUCY2A|ANPa" guanylate cyclase A "ANPRA|NPRA" "atrionatriuretic peptide receptor A|natriuretic peptide receptor A" Transmembrane guanylate cyclases 343 1990-03-27 2014-03-03 2023-01-20 4881 ENSG00000169418 OTTHUMG00000037085 uc001fcs.5 BC063304 NM_000906 CCDS1051 P16066 1979052 MGI:97371 RGD:3195 108960 objectId:1747 HGNC:7943 "ENST00000368680.4|NM_000906.4" HGNC:7944 NPR2 natriuretic peptide receptor 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "GUCY2B|ANPb|GC-B" "guanylate cyclase 2B|guanylyl cyclase B" "ANPRB|NPRB|AMDM" "acromesomelic dysplasia, Maroteaux type|atrionatriuretic peptide receptor B|natriuretic peptide receptor B" "Transmembrane guanylate cyclases|DENN domain containing" "343|504" 1990-03-27 2014-03-03 2023-03-15 4882 ENSG00000159899 OTTHUMG00000019871 uc003zyd.4 AJ005282 NM_001378923 CCDS6590 P20594 "9634515|15146390" MGI:97372 RGD:620851 108961 123897 objectId:1748 HGNC:7944 "ENST00000342694.7|NM_003995.4" HGNC:7944 -HGNC:7945 NPR3 natriuretic peptide receptor 3 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "GUCY2B|FLJ14054" guanylate cyclase C "NPRC|ANPRC|C5orf23" "chromosome 5 open reading frame 23|atrionatriuretic peptide receptor C|natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)|natriuretic peptide receptor C" DENN domain containing 504 1990-03-27 2014-03-03 2023-01-20 4883 ENSG00000113389 OTTHUMG00000150316 uc003jhu.4 NM_000908 "CCDS56356|CCDS56357|CCDS47196|CCDS87291" P17342 "2162522|1979052" MGI:97373 RGD:3196 108962 objectId:1749 HGNC:7945 "ENST00000265074.13|NM_001204375.2" +HGNC:7945 NPR3 natriuretic peptide receptor 3 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "GUCY2B|FLJ14054" guanylate cyclase C "NPRC|ANPRC|C5orf23" "chromosome 5 open reading frame 23|atrionatriuretic peptide receptor C|natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)|natriuretic peptide receptor C" DENN domain containing 504 1990-03-27 2014-03-03 2023-01-20 4883 ENSG00000113389 OTTHUMG00000150316 uc003jhu.4 NM_000908 "CCDS56357|CCDS56356|CCDS47196|CCDS87291" P17342 "2162522|1979052" MGI:97373 RGD:3196 108962 objectId:1749 HGNC:7945 "ENST00000265074.13|NM_001204375.2" HGNC:24969 NPRL2 NPR2 like, GATOR1 complex subunit protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "NPR2L|NPR2" TUSC4 "tumor suppressor candidate 4|nitrogen permease regulator-like 2 (S. cerevisiae)" GATOR1 subcomplex 1394 2004-01-20 2010-03-30 2017-06-13 2023-01-20 10641 ENSG00000114388 OTTHUMG00000156864 uc003daj.2 AF040708 NM_006545 CCDS2826 Q8WTW4 "15374952|18616680|23723238" MGI:1914482 RGD:1308927 607072 465703 HGNC:24969 "ENST00000232501.8|NM_006545.5" HGNC:24969 HGNC:14124 NPRL3 NPR3 like, GATOR1 complex subunit protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CGTHBA|RMD11|NPR3|MARE|HS-40" conserved gene telomeric to alpha globin cluster C16orf35 "chromosome 16 open reading frame 35|nitrogen permease regulator-like 3 (S. cerevisiae)|NPR3-like, GATOR1 complex subunit" GATOR1 subcomplex 1394 2000-12-21 2010-03-30 2016-03-31 2023-01-20 8131 ENSG00000103148 OTTHUMG00000047792 uc059ogj.1 NM_001039476 "CCDS73795|CCDS73794" Q12980 8575760 MGI:109258 RGD:1308665 600928 465709 HGNC:14124 "ENST00000611875.5|NM_001077350.3" HGNC:14124 HGNC:33940 NPS neuropeptide S protein-coding gene gene with protein product Approved 10q26.2 10q26.2 prepro-neuropeptide S Neuropeptides 1902 2008-01-17 2023-01-20 594857 ENSG00000214285 OTTHUMG00000188145 uc001ljx.2 BC148465 NM_001030013 CCDS41577 P0C0P6 "18181564|15312648" MGI:3642232 RGD:2324597 609513 ligandId:1490 HGNC:33940 "ENST00000398023.3|NM_001030013.2" -HGNC:23631 NPSR1 neuropeptide S receptor 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "PGR14|GPRA" GPR154 G protein-coupled receptor 154 Neuropeptide S receptor 241 2003-11-26 2006-05-10 2006-05-10 2023-01-20 387129 ENSG00000187258 OTTHUMG00000099383 uc003teg.1 AY255536 NM_207173 "CCDS5443|CCDS75580|CCDS75579|CCDS5444|CCDS75581" Q6W5P4 "12679517|15073379" MGI:2441738 RGD:1564154 608595 objectId:302 HGNC:23631 "ENST00000360581.6|NM_207172.2" +HGNC:23631 NPSR1 neuropeptide S receptor 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "PGR14|GPRA" GPR154 G protein-coupled receptor 154 Neuropeptide S receptor 241 2003-11-26 2006-05-10 2006-05-10 2023-01-20 387129 ENSG00000187258 OTTHUMG00000099383 uc003teg.1 AY255536 NM_207173 "CCDS75581|CCDS5443|CCDS75579|CCDS75580|CCDS5444" Q6W5P4 "12679517|15073379" MGI:2441738 RGD:1564154 608595 objectId:302 HGNC:23631 "ENST00000360581.6|NM_207172.2" HGNC:22128 NPSR1-AS1 NPSR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 "AAA1|IMAGE:4827585" asthma-associated alternatively spliced gene 1 NPSR1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-23 2012-08-15 2012-10-12 404744 ENSG00000197085 OTTHUMG00000153007 uc010kwo.3 BC031961 NR_015356 15073379 608596 NPSR1-AS1 HGNC:22128 -HGNC:17867 NPTN neuroplastin protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "SDR1|GP55|GP65|np65|np55" SDFR1 stromal cell derived factor receptor 1 "I-set domain containing|Basigin family " "593|1669" 2002-11-21 2006-02-22 2006-02-22 2023-01-20 27020 ENSG00000156642 OTTHUMG00000137586 uc002avs.4 AF035287 NM_012428 "CCDS58379|CCDS58380|CCDS10250|CCDS10249" Q9Y639 "8619474|9110174" MGI:108077 RGD:620296 612820 objectId:3149 HGNC:17867 "ENST00000345330.9|NM_012428.4" +HGNC:17867 NPTN neuroplastin protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "SDR1|GP55|GP65|np65|np55" SDFR1 stromal cell derived factor receptor 1 "I-set domain containing|Basigin family " "593|1669" 2002-11-21 2006-02-22 2006-02-22 2023-01-20 27020 ENSG00000156642 OTTHUMG00000137586 uc002avs.4 AF035287 NM_012428 "CCDS10250|CCDS58380|CCDS10249|CCDS58379" Q9Y639 "8619474|9110174" MGI:108077 RGD:620296 612820 objectId:3149 HGNC:17867 "ENST00000345330.9|NM_012428.4" HGNC:45091 NPTN-IT1 NPTN intronic transcript 1 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 lncRNA-LET long non-coding RNA, low expression in tumor NPTN intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2013-02-11 2015-02-25 2016-11-24 101241892 ENSG00000281183 OTTHUMG00000189514 uc032cjb.2 AK055007 NR_103844 23395002 615176 lncrna-let NPTN-IT1 HGNC:45091 HGNC:7952 NPTX1 neuronal pentraxin 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 neuronal pentraxin I Long pentraxins 1142 1995-05-12 2016-03-14 2023-01-20 4884 ENSG00000171246 OTTHUMG00000177607 uc002jyp.2 U61849 NM_002522 CCDS32762 Q15818 8884281 MGI:107811 RGD:628894 602367 HGNC:7952 "ENST00000306773.5|NM_002522.4" HGNC:7953 NPTX2 neuronal pentraxin 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 apexin neuronal pentraxin II Long pentraxins 1142 1995-05-12 2016-03-14 2023-01-20 4885 ENSG00000106236 OTTHUMG00000154369 uc003upl.3 NM_002523 CCDS5657 P47972 8530029 MGI:1858209 RGD:1309447 600750 HGNC:7953 "ENST00000265634.4|NM_002523.3" @@ -23056,30 +23058,30 @@ HGNC:9329 NPY4R neuropeptide Y receptor Y4 protein-coding gene gene with protein HGNC:52383 NPY4R2 neuropeptide Y receptor Y4-2 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 CH17-360D5.1 2017-04-12 2017-09-13 2023-01-20 100996758 ENSG00000264717 OTTHUMG00000188323 NM_001278795 CCDS81459 P0DQD5 MGI:105374 HGNC:52383 "ENST00000576178.7|NM_001395253.1" HGNC:7958 NPY5R neuropeptide Y receptor Y5 protein-coding gene gene with protein product Approved 4q32.2 04q32.2 NPYR5 Neuropeptide Y receptors 243 1997-03-27 2023-01-20 4889 ENSG00000164129 OTTHUMG00000161353 uc003iqn.3 BC042416 NM_006174 CCDS3804 Q15761 "8700207|9417917" MGI:108082 RGD:3199 602001 objectId:308 HGNC:7958 "ENST00000338566.8|NM_006174.4" HGNC:7959 NPY6R neuropeptide Y receptor Y6 (pseudogene) pseudogene pseudogene Approved 5q31.2 05q31.2 "PP2|NPY1RL|NPY6RP" Neuropeptide Y receptors 243 1997-03-27 2018-10-18 4888 ENSG00000226306 OTTHUMG00000163236 D86519 NR_002713 Q99463 "8910373|8910290" MGI:1098590 601770 PGOHUM00000235768 objectId:683 HGNC:7959 -HGNC:2874 NQO1 NAD(P)H quinone dehydrogenase 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "DHQU|QR1|DTD" DT-diaphorase "NMOR1|DIA4" "diaphorase (NADH/NADPH) (cytochrome b-5 reductase)|NAD(P)H dehydrogenase, quinone 1" 2001-06-22 2001-12-07 2016-03-21 2023-01-20 1728 ENSG00000181019 OTTHUMG00000137575 uc002exp.5 M81600 NM_000903 "CCDS67067|CCDS32471|CCDS32472|CCDS10883" P15559 2843525 MGI:103187 RGD:2503 125860 1.6.5.2 HGNC:2874 "ENST00000320623.10|NM_000903.3" +HGNC:2874 NQO1 NAD(P)H quinone dehydrogenase 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "DHQU|QR1|DTD" DT-diaphorase "NMOR1|DIA4" "diaphorase (NADH/NADPH) (cytochrome b-5 reductase)|NAD(P)H dehydrogenase, quinone 1" 2001-06-22 2001-12-07 2016-03-21 2023-01-20 1728 ENSG00000181019 OTTHUMG00000137575 uc002exp.5 M81600 NM_000903 "CCDS67067|CCDS10883|CCDS32471|CCDS32472" P15559 2843525 MGI:103187 RGD:2503 125860 1.6.5.2 HGNC:2874 "ENST00000320623.10|NM_000903.3" HGNC:55344 NQO1-DT NQO1 divergent transcript non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 FASRL fatty acid synthesis-related lncRNA Divergent transcripts 1990 2020-11-04 2022-12-07 119139903 ENSG00000262136 XR_007065098 36307901 HGNC:7856 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "QR2|DHQV|DIA6" NMOR2 "NAD(P)H menadione oxidoreductase 2, dioxin-inducible|NAD(P)H quinone dehydrogenase 2" 1991-09-13 2001-12-07 2017-01-27 2023-01-20 4835 ENSG00000124588 OTTHUMG00000014130 uc003mus.3 U07736 NM_000904 "CCDS75388|CCDS4481" P16083 1691923 MGI:104513 RGD:1303320 160998 1.10.5.1 HGNC:7856 "ENST00000380455.11|NM_000904.6" HGNC:40407 NQO2-AS1 NQO2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.2 06p25.2 Antisense RNAs 1987 2019-08-16 2019-08-16 105374888 ENSG00000224846 OTTHUMG00000014129 HGNC:40407 HGNC:7962 NR1D1 nuclear receptor subfamily 1 group D member 1 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "ear-1|hRev|Rev-ErbAalpha|THRA1|REVERBA|REVERBalpha" THRAL nuclear receptor subfamily 1, group D, member 1 Nuclear receptor subfamily 1 group D 2072 1999-04-16 2015-11-18 2023-01-20 9572 ENSG00000126368 OTTHUMG00000133327 uc002htz.4 X72631 NM_021724 CCDS11361 P20393 1971514 MGI:2444210 RGD:628827 602408 objectId:596 HGNC:7962 "ENST00000246672.4|NM_021724.5" HGNC:7963 NR1D2 nuclear receptor subfamily 1 group D member 2 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "BD73|RVR|EAR-1r|HZF2|Hs.37288|REVERBB|REVERBbeta" nuclear receptor subfamily 1, group D, member 2 Nuclear receptor subfamily 1 group D 2072 1998-11-30 2015-11-18 2023-01-20 9975 ENSG00000174738 OTTHUMG00000155659 uc003ccs.2 BC045613 NM_001145425 CCDS33718 Q14995 "7997240|10198169" MGI:2449205 RGD:628828 602304 470786 objectId:597 HGNC:7963 "ENST00000312521.9|NM_005126.5" HGNC:7965 NR1H2 nuclear receptor subfamily 1 group H member 2 protein-coding gene gene with protein product Approved 19q13.3 19q13.3 "NER|NER-I|RIP15|LXR-b|LXRb" liver X receptor-beta UNR "ubiquitously-expressed nuclear receptor|nuclear receptor subfamily 1, group H, member 2" Nuclear receptor subfamily 1 group H 2083 1994-09-19 2015-11-18 2023-01-20 7376 ENSG00000131408 OTTHUMG00000183036 uc010enw.5 U14534 NM_001256647 "CCDS42593|CCDS58673" P55055 "7782080|7971966" MGI:1352463 RGD:61906 600380 objectId:601 HGNC:7965 "ENST00000253727.10|NM_007121.7" -HGNC:7966 NR1H3 nuclear receptor subfamily 1 group H member 3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "LXR-a|RLD-1|LXRa" liver X receptor-alpha nuclear receptor subfamily 1, group H, member 3 Nuclear receptor subfamily 1 group H 2083 1999-09-17 2015-11-18 2023-01-20 10062 ENSG00000025434 OTTHUMG00000150628 uc058bcq.1 U22662 NM_001130101 "CCDS44585|CCDS7929|CCDS44584|CCDS86200|CCDS73285" Q13133 "8621574|7744246" MGI:1352462 RGD:61909 602423 objectId:602 HGNC:7966 "ENST00000441012.7|NM_005693.4" -HGNC:7967 NR1H4 nuclear receptor subfamily 1 group H member 4 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FXR|RIP14|HRR1|HRR-1" "farnesoid X receptor|bile acid receptor" nuclear receptor subfamily 1, group H, member 4 Nuclear receptor subfamily 1 group H 2083 1999-09-17 2015-11-18 2023-01-20 9971 ENSG00000012504 OTTHUMG00000170359 uc001thp.3 U68233 NM_005123 "CCDS55874|CCDS9078|CCDS55876|CCDS55875|CCDS55873" Q96RI1 "7774010|9223286" MGI:1352464 RGD:628831 603826 304804 objectId:603 HGNC:7967 "ENST00000392986.8|NM_001206979.2" HGNC:7967 +HGNC:7966 NR1H3 nuclear receptor subfamily 1 group H member 3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "LXR-a|RLD-1|LXRa" liver X receptor-alpha nuclear receptor subfamily 1, group H, member 3 Nuclear receptor subfamily 1 group H 2083 1999-09-17 2015-11-18 2023-01-20 10062 ENSG00000025434 OTTHUMG00000150628 uc058bcq.1 U22662 NM_001130101 "CCDS44584|CCDS86200|CCDS7929|CCDS44585|CCDS73285" Q13133 "8621574|7744246" MGI:1352462 RGD:61909 602423 objectId:602 HGNC:7966 "ENST00000441012.7|NM_005693.4" +HGNC:7967 NR1H4 nuclear receptor subfamily 1 group H member 4 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FXR|RIP14|HRR1|HRR-1" "farnesoid X receptor|bile acid receptor" nuclear receptor subfamily 1, group H, member 4 Nuclear receptor subfamily 1 group H 2083 1999-09-17 2015-11-18 2023-01-20 9971 ENSG00000012504 OTTHUMG00000170359 uc001thp.3 U68233 NM_005123 "CCDS55876|CCDS55873|CCDS9078|CCDS55875|CCDS55874" Q96RI1 "7774010|9223286" MGI:1352464 RGD:628831 603826 304804 objectId:603 HGNC:7967 "ENST00000392986.8|NM_001206979.2" HGNC:7967 HGNC:32673 NR1H5P nuclear receptor subfamily 1 group H member 5, pseudogene pseudogene pseudogene Approved 1p13.2 01p13.2 "Fxrb|NR1H5" "nuclear receptor subfamily 1, group H, member 5 pseudogene|nuclear receptor subfamily 1, group H, member 5, pseudogene" Nuclear receptor subfamily 1 group H 2083 2008-01-31 2015-11-18 2020-08-14 643609 ENSG00000227970 OTTHUMG00000012058 NG_007471.1 MGI:3026618 617386 objectId:604 HGNC:32673 -HGNC:7968 NR1I2 nuclear receptor subfamily 1 group I member 2 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "ONR1|PXR|BXR|SXR|PAR2" "pregnane X receptor|orphan nuclear receptor PXR" nuclear receptor subfamily 1, group I, member 2 Nuclear receptor subfamily 1 group I 2084 1999-04-23 2015-11-18 2023-01-20 8856 ENSG00000144852 OTTHUMG00000159400 uc003edk.3 AF061056 NM_003889 "CCDS2995|CCDS54627|CCDS43136" O75469 "9727070|9770465" MGI:1337040 RGD:69057 603065 470788 objectId:606 HGNC:7968 "ENST00000393716.8|NM_003889.4" +HGNC:7968 NR1I2 nuclear receptor subfamily 1 group I member 2 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "ONR1|PXR|BXR|SXR|PAR2" "pregnane X receptor|orphan nuclear receptor PXR" nuclear receptor subfamily 1, group I, member 2 Nuclear receptor subfamily 1 group I 2084 1999-04-23 2015-11-18 2023-01-20 8856 ENSG00000144852 OTTHUMG00000159400 uc003edk.3 AF061056 NM_003889 "CCDS54627|CCDS2995|CCDS43136" O75469 "9727070|9770465" MGI:1337040 RGD:69057 603065 470788 objectId:606 HGNC:7968 "ENST00000393716.8|NM_003889.4" HGNC:7969 NR1I3 nuclear receptor subfamily 1 group I member 3 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "MB67|CAR1|CAR" constitutive androstane receptor nuclear receptor subfamily 1, group I, member 3 Nuclear receptor subfamily 1 group I 2084 1999-09-23 2015-11-18 2023-01-20 9970 ENSG00000143257 OTTHUMG00000034347 uc001fzy.4 Z30425 NM_001077469 Q14994 8114692 MGI:1346307 RGD:621400 603881 470790 objectId:607 HGNC:7969 "ENST00000367983.9|NM_005122.5" HGNC:7970 NR1I4 nuclear receptor subfamily 1 group I member 4 other unknown Approved reserved reserved CAR2 nuclear receptor subfamily 1, group I, member 4 1999-09-23 2015-11-18 2015-11-18 22817 -HGNC:7971 NR2C1 nuclear receptor subfamily 2 group C member 1 protein-coding gene gene with protein product Approved 12q22 12q22 TR2-11 TR2 nuclear receptor subfamily 2, group C, member 1 Nuclear receptor subfamily 2 group C 2073 1998-05-15 2015-11-18 2023-01-20 7181 ENSG00000120798 OTTHUMG00000170131 uc001tdm.6 M29960 NM_003297 "CCDS9051|CCDS44953|CCDS41821" P13056 2597158 MGI:1352465 RGD:3200 601529 objectId:613 HGNC:7971 "ENST00000333003.10|NM_003297.4" -HGNC:7972 NR2C2 nuclear receptor subfamily 2 group C member 2 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "TAK1|TR2R1|hTAK1" TR4 nuclear receptor subfamily 2, group C, member 2 Nuclear receptor subfamily 2 group C 2073 1998-05-15 2015-11-18 2023-01-20 7182 ENSG00000177463 OTTHUMG00000129839 uc003bzi.4 L27586 NM_003298 "CCDS2621|CCDS74905" P49116 "8661150|8016112" MGI:1352466 RGD:3201 601426 objectId:614 HGNC:7972 "ENST00000425241.6|NM_001291694.2" +HGNC:7971 NR2C1 nuclear receptor subfamily 2 group C member 1 protein-coding gene gene with protein product Approved 12q22 12q22 TR2-11 TR2 nuclear receptor subfamily 2, group C, member 1 Nuclear receptor subfamily 2 group C 2073 1998-05-15 2015-11-18 2023-01-20 7181 ENSG00000120798 OTTHUMG00000170131 uc001tdm.6 M29960 NM_003297 "CCDS9051|CCDS41821|CCDS44953" P13056 2597158 MGI:1352465 RGD:3200 601529 objectId:613 HGNC:7971 "ENST00000333003.10|NM_003297.4" +HGNC:7972 NR2C2 nuclear receptor subfamily 2 group C member 2 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "TAK1|TR2R1|hTAK1" TR4 nuclear receptor subfamily 2, group C, member 2 Nuclear receptor subfamily 2 group C 2073 1998-05-15 2015-11-18 2023-01-20 7182 ENSG00000177463 OTTHUMG00000129839 uc003bzi.4 L27586 NM_003298 "CCDS74905|CCDS2621" P49116 "8661150|8016112" MGI:1352466 RGD:3201 601426 objectId:614 HGNC:7972 "ENST00000425241.6|NM_001291694.2" HGNC:30763 NR2C2AP nuclear receptor 2C2 associated protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 TRA16 TR4 orphan receptor associated protein TRA16 2008-01-10 2016-02-15 2023-01-20 126382 ENSG00000184162 OTTHUMG00000169225 uc002nlx.4 AY101377 NM_176880 "CCDS74316|CCDS32967" Q86WQ0 12486131 MGI:1922942 RGD:1561190 608719 HGNC:30763 "ENST00000331552.12|NM_176880.6" -HGNC:7973 NR2E1 nuclear receptor subfamily 2 group E member 1 protein-coding gene gene with protein product Approved 6q21 06q21 "TLL|XTLL" tailless TLX nuclear receptor subfamily 2, group E, member 1 Nuclear receptor subfamily 2 group E 2074 1998-07-15 2015-11-18 2023-01-20 7101 ENSG00000112333 OTTHUMG00000015319 uc003psg.4 Y13276 NM_001286102 "CCDS5063|CCDS69165" Q9Y466 9628820 MGI:1100526 RGD:1595162 603849 objectId:615 HGNC:7973 "ENST00000368986.9|NM_003269.5" -HGNC:7974 NR2E3 nuclear receptor subfamily 2 group E member 3 protein-coding gene gene with protein product Approved 15q23 15q23 "PNR|rd7|RP37" nuclear receptor subfamily 2, group E, member 3 Nuclear receptor subfamily 2 group E 2074 1999-09-16 2015-11-18 2023-01-20 10002 ENSG00000278570 OTTHUMG00000172841 uc032cil.2 NM_014249 "CCDS73751|CCDS73750" Q9Y5X4 10220376 MGI:1346317 RGD:2318602 "Mutations of the Photoreceptor cell-specific Nuclear Receptor|http://www.retina-international.org/files/sci-news/nr2e3mut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NR2E3" 604485 123912 objectId:616 HGNC:7974 "ENST00000617575.5|NM_014249.4" HGNC:7974 -HGNC:7975 NR2F1 nuclear receptor subfamily 2 group F member 1 protein-coding gene gene with protein product Approved 5q15 05q15 "EAR-3|COUP-TFI|TCFCOUP1|SVP44|COUPTF1" "ERBAL3|TFCOUP1" nuclear receptor subfamily 2, group F, member 1 Nuclear receptor subfamily 2 group F 2075 1995-03-21 2015-11-18 2023-01-20 7025 ENSG00000175745 OTTHUMG00000119079 uc003kkj.4 BC004154 NM_005654 "CCDS93743|CCDS4068" P10589 8530078 MGI:1352451 RGD:621682 132890 403297 objectId:617 HGNC:7975 "ENST00000327111.8|NM_005654.6" HGNC:7975 +HGNC:7973 NR2E1 nuclear receptor subfamily 2 group E member 1 protein-coding gene gene with protein product Approved 6q21 06q21 "TLL|XTLL" tailless TLX nuclear receptor subfamily 2, group E, member 1 Nuclear receptor subfamily 2 group E 2074 1998-07-15 2015-11-18 2023-01-20 7101 ENSG00000112333 OTTHUMG00000015319 uc003psg.4 Y13276 NM_001286102 "CCDS69165|CCDS5063" Q9Y466 9628820 MGI:1100526 RGD:1595162 603849 objectId:615 HGNC:7973 "ENST00000368986.9|NM_003269.5" +HGNC:7974 NR2E3 nuclear receptor subfamily 2 group E member 3 protein-coding gene gene with protein product Approved 15q23 15q23 "PNR|rd7|RP37" nuclear receptor subfamily 2, group E, member 3 Nuclear receptor subfamily 2 group E 2074 1999-09-16 2015-11-18 2023-01-20 10002 ENSG00000278570 OTTHUMG00000172841 uc032cil.2 NM_014249 "CCDS73750|CCDS73751" Q9Y5X4 10220376 MGI:1346317 RGD:2318602 "Mutations of the Photoreceptor cell-specific Nuclear Receptor|http://www.retina-international.org/files/sci-news/nr2e3mut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NR2E3" 604485 123912 objectId:616 HGNC:7974 "ENST00000617575.5|NM_014249.4" HGNC:7974 +HGNC:7975 NR2F1 nuclear receptor subfamily 2 group F member 1 protein-coding gene gene with protein product Approved 5q15 05q15 "EAR-3|COUP-TFI|TCFCOUP1|SVP44|COUPTF1" "ERBAL3|TFCOUP1" nuclear receptor subfamily 2, group F, member 1 Nuclear receptor subfamily 2 group F 2075 1995-03-21 2015-11-18 2023-01-20 7025 ENSG00000175745 OTTHUMG00000119079 uc003kkj.4 BC004154 NM_005654 "CCDS4068|CCDS93743" P10589 8530078 MGI:1352451 RGD:621682 132890 403297 objectId:617 HGNC:7975 "ENST00000327111.8|NM_005654.6" HGNC:7975 HGNC:48622 NR2F1-AS1 NR2F1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q15 05q15 FLJ42709 Antisense RNAs 1987 2013-05-21 2013-05-28 2013-05-28 2019-07-17 441094 ENSG00000237187 OTTHUMG00000162643 "BC010610|DA718791" NR_021490 "23583100|29602203|31304680" NR2F1-AS1 HGNC:48622 HGNC:7976 NR2F2 nuclear receptor subfamily 2 group F member 2 protein-coding gene gene with protein product Approved 15q26.2 15q26.2 "COUP-TFII|COUPTFB|SVP40|NF-E3|COUPTF2" COUP transcription factor II "ARP1|TFCOUP2" nuclear receptor subfamily 2, group F, member 2 "MicroRNA protein coding host genes|Nuclear receptor subfamily 2 group F" "1691|2075" 1995-03-21 2015-11-18 2023-01-20 7026 ENSG00000185551 OTTHUMG00000149848 uc010uri.3 M64497 NM_001145155 "CCDS10375|CCDS45359|CCDS45358" P24468 "8530078|11544252" MGI:1352452 RGD:69305 107773 402562 objectId:618 HGNC:7976 "ENST00000394166.8|NM_021005.4" HGNC:7976 HGNC:44222 NR2F2-AS1 NR2F2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 NR2F2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-07-09 2012-08-15 2020-01-30 644192 ENSG00000247809 OTTHUMG00000171855 uc059npo.1 AK000872 XR_109225 31966043 NR2F2-AS1 HGNC:44222 HGNC:7977 NR2F6 nuclear receptor subfamily 2 group F member 6 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "EAR-2|EAR2" ERBAL2 nuclear receptor subfamily 2, group F, member 6 Nuclear receptor subfamily 2 group F 2075 1989-02-23 2015-11-18 2023-01-20 2063 ENSG00000160113 OTTHUMG00000182728 uc002nfq.4 X12794 NM_005234 CCDS12352 P10588 2905047 MGI:1352453 RGD:621685 132880 objectId:619 HGNC:7977 "ENST00000291442.4|NM_005234.4" -HGNC:7978 NR3C1 nuclear receptor subfamily 3 group C member 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 GR GRL "glucocorticoid receptor|nuclear receptor subfamily 3, group C, member 1|nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" Nuclear receptor subfamily 3 group C 2076 2001-06-22 2015-11-18 2023-01-20 2908 ENSG00000113580 OTTHUMG00000129677 uc003lnd.3 X03225 NM_000176 "CCDS47298|CCDS4278|CCDS34258" P04150 2867473 MGI:95824 RGD:2741 138040 123916 objectId:625 HGNC:7978 "ENST00000394464.7|NM_000176.3" HGNC:7978 +HGNC:7978 NR3C1 nuclear receptor subfamily 3 group C member 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 GR GRL "glucocorticoid receptor|nuclear receptor subfamily 3, group C, member 1|nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" Nuclear receptor subfamily 3 group C 2076 2001-06-22 2015-11-18 2023-01-20 2908 ENSG00000113580 OTTHUMG00000129677 uc003lnd.3 X03225 NM_000176 "CCDS34258|CCDS47298|CCDS4278" P04150 2867473 MGI:95824 RGD:2741 138040 123916 objectId:625 HGNC:7978 "ENST00000394464.7|NM_000176.3" HGNC:7978 HGNC:4592 NR3C1P1 nuclear receptor subfamily 3 group C member 1 pseudogene 1 pseudogene pseudogene Approved 16q24.2 16q24.2 "GRLL1|NR3C1P" "glucocorticoid receptor-like 1|nuclear receptor subfamily 3, group C, member 1 pseudogene|nuclear receptor subfamily 3, group C, member 1 pseudogene 1" 2001-06-22 2010-02-26 2015-11-18 2015-11-18 2910 NG_029774 2867473 138060 PGOHUM00000249184 HGNC:4592 HGNC:7979 NR3C2 nuclear receptor subfamily 3 group C member 2 protein-coding gene gene with protein product Approved 4q31 04q31 MR MLR "mineralocorticoid receptor|nuclear receptor subfamily 3, group C, member 2" Nuclear receptor subfamily 3 group C 2076 1988-08-19 2015-11-18 2023-01-20 4306 ENSG00000151623 OTTHUMG00000161455 uc063acs.1 M16801 NM_000901 P08235 2558856 MGI:99459 RGD:3094 600983 123920 objectId:626 HGNC:7979 "ENST00000358102.8|NM_000901.5" HGNC:7979 HGNC:7980 NR4A1 nuclear receptor subfamily 4 group A member 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "TR3|N10|NAK-1|NGFIB|NUR77" "HMR|GFRP1" nuclear receptor subfamily 4, group A, member 1 Nuclear receptor subfamily 4 group A 2079 1990-09-10 2015-11-18 2023-03-15 3164 ENSG00000123358 OTTHUMG00000150393 uc001rzt.4 L13740 NM_001202233 "CCDS8818|CCDS73471|CCDS55828" P22736 2626032 MGI:1352454 RGD:620029 139139 objectId:629 HGNC:7980 "ENST00000394825.6|NM_173157.3" @@ -23088,36 +23090,36 @@ HGNC:7981 NR4A2 nuclear receptor subfamily 4 group A member 2 protein-coding gen HGNC:7982 NR4A3 nuclear receptor subfamily 4 group A member 3 protein-coding gene gene with protein product Approved 9q22 09q22 "CSMF|CHN|NOR1|MINOR" nuclear receptor subfamily 4, group A, member 3 Nuclear receptor subfamily 4 group A 2079 1999-09-24 2015-11-18 2023-01-20 8013 ENSG00000119508 OTTHUMG00000021030 uc022bky.1 U12767 NM_006981 Q92570 8614405 MGI:1352457 RGD:61882 NR4A3 600542 361071 objectId:631 HGNC:7982 "ENST00000395097.7|NM_006981.4" HGNC:7983 NR5A1 nuclear receptor subfamily 5 group A member 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "FTZ1|SF-1|ELP|AD4BP|hSF-1|SF1" steroidogenic factor 1 FTZF1 nuclear receptor subfamily 5, group A, member 1 Nuclear receptor subfamily 5 group A 2080 1994-06-07 2015-11-18 2023-01-20 2516 ENSG00000136931 OTTHUMG00000020655 uc004boo.2 D88155 NM_004959 CCDS6856 Q13285 7789992 MGI:1346833 RGD:68350 184757 168312 objectId:632 HGNC:7983 "ENST00000373588.9|NM_004959.5" HGNC:7983 HGNC:7984 NR5A2 nuclear receptor subfamily 5 group A member 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FTZ-F1beta|hB1F|LRH-1|FTZ-F1|hB1F-2|B1F2|LRH1" liver receptor homolog-1 FTF nuclear receptor subfamily 5, group A, member 2 Nuclear receptor subfamily 5 group A 2080 1998-05-13 2015-11-18 2023-01-20 2494 ENSG00000116833 OTTHUMG00000035635 uc001gvb.5 U93553 NM_001276464 "CCDS1401|CCDS1400|CCDS60383" O00482 "9858833|7680097" MGI:1346834 RGD:68353 604453 objectId:633 HGNC:7984 "ENST00000367362.8|NM_205860.3" -HGNC:7985 NR6A1 nuclear receptor subfamily 6 group A member 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "GCNF1|RTR|CT150" GCNF nuclear receptor subfamily 6, group A, member 1 Nuclear receptor subfamily 6 group A 2081 1997-08-22 2015-11-18 2023-01-20 2649 ENSG00000148200 OTTHUMG00000020661 uc004bor.3 U64876 NM_001278546 "CCDS94481|CCDS65127|CCDS35137|CCDS55340" Q15406 "9134503|8982251" MGI:1352459 RGD:1564740 602778 470792 objectId:634 HGNC:7985 "ENST00000487099.7|NM_033334.4" +HGNC:7985 NR6A1 nuclear receptor subfamily 6 group A member 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "GCNF1|RTR|CT150" GCNF nuclear receptor subfamily 6, group A, member 1 Nuclear receptor subfamily 6 group A 2081 1997-08-22 2015-11-18 2023-01-20 2649 ENSG00000148200 OTTHUMG00000020661 uc004bor.3 U64876 NM_001278546 "CCDS55340|CCDS65127|CCDS94481|CCDS35137" Q15406 "9134503|8982251" MGI:1352459 RGD:1564740 602778 470792 objectId:634 HGNC:7985 "ENST00000487099.7|NM_033334.4" HGNC:26981 NRAD1 non-coding RNA in the aldehyde dehydrogenase 1A pathway non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 "NCRNA00284|LINC00284" "non-protein coding RNA 284|long intergenic non-protein coding RNA 284" Long non-coding RNAs with non-systematic symbols 1992 2010-08-05 2019-06-26 2019-06-26 2019-06-26 121838 ENSG00000233725 OTTHUMG00000016827 uc058wsb.1 AK001938 NR_026955 31197235 LINC00284 HGNC:26981 HGNC:19337 NRADDP neurotrophin receptor associated death domain, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2010-03-12 2020-08-14 100129354 ENSG00000236409 OTTHUMG00000154641 NR_024046 "18085818|20210993" MGI:1914419 HGNC:19337 -HGNC:56652 NRAL NRF2 regulation associated lncRNA non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Long non-coding RNAs with non-systematic symbols 1992 2022-12-01 2022-12-01 128071539 ENSG00000229434 30030687 -HGNC:7988 NRAP nebulin related anchoring protein protein-coding gene gene with protein product Approved 10q25.3 10q25.3 nebulin-related anchoring protein "LIM domain containing|Nebulin family" "1218|2240" 1997-04-21 2015-12-04 2023-01-20 4892 ENSG00000197893 OTTHUMG00000019072 uc057wbq.1 NM_006175 "CCDS7578|CCDS73199|CCDS7579" Q86VF7 "12789664|10320340" MGI:1098765 RGD:1306731 602873 HGNC:7988 "ENST00000359988.4|NM_198060.4" +HGNC:56652 NRAL NRF2 regulation associated lncRNA non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Long non-coding RNAs with non-systematic symbols 1992 2022-12-01 2022-12-01 128071539 ENSG00000229434 NR_186236 30030687 +HGNC:7988 NRAP nebulin related anchoring protein protein-coding gene gene with protein product Approved 10q25.3 10q25.3 nebulin-related anchoring protein "LIM domain containing|Nebulin family" "1218|2240" 1997-04-21 2015-12-04 2023-01-20 4892 ENSG00000197893 OTTHUMG00000019072 uc057wbq.1 NM_006175 "CCDS7578|CCDS7579|CCDS73199" Q86VF7 "12789664|10320340" MGI:1098765 RGD:1306731 602873 HGNC:7988 "ENST00000359988.4|NM_198060.4" HGNC:33843 NRARP NOTCH regulated ankyrin repeat protein protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC61598 Ankyrin repeat domain containing 403 2008-10-15 2017-05-12 2023-01-20 441478 ENSG00000198435 OTTHUMG00000156150 uc004cmo.3 NM_001004354 CCDS35188 Q7Z6K4 "11485984|21998026" MGI:1914372 RGD:1591939 619987 HGNC:33843 "ENST00000356628.4|NM_001004354.3" HGNC:7989 NRAS NRAS proto-oncogene, GTPase protein-coding gene gene with protein product Approved 1p13.2 01p13.2 N-ras "neuroblastoma RAS viral (v-ras) oncogene homolog|neuroblastoma RAS viral oncogene homolog" RAS type GTPase family 389 2001-06-22 2017-02-27 2023-01-20 4893 ENSG00000213281 OTTHUMG00000012059 uc009wgu.4 BC005219 NM_002524 CCDS877 P01111 "6705568|11524732" MGI:97376 RGD:3205 "NRASbase: Mutation registry for autoimmune lymphoproliferative syndrome type IV|http://structure.bmc.lu.se/idbase/NRASbase/|LRG_92|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_92.xml" NRAS 164790 221346 objectId:2823 HGNC:7989 "ENST00000369535.5|NM_002524.5" HGNC:7989 HGNC:48588 NRAV negative regulator of antiviral response non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 DYNLL1-AS1 "DYNLL1 antisense RNA 1|negative regulator of antiviral response (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-05-30 2015-01-23 2018-05-16 2018-05-16 100506668 ENSG00000248008 OTTHUMG00000169374 "AK026783|BC065744" NR_038854 25525793 616207 NRAV HGNC:48588 HGNC:7960 NR0B1 nuclear receptor subfamily 0 group B member 1 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 "DAX1|AHCH" "AHC|DSS" "dosage-sensitive sex reversal|nuclear receptor subfamily 0, group B, member 1" Nuclear receptor subfamily 0 group B 2068 1986-01-01 2015-11-18 2023-01-20 190 ENSG00000169297 OTTHUMG00000021323 uc004dcf.5 S74720 NM_000475 CCDS14223 P51843 "1301166|10412368" MGI:1352460 RGD:62028 "NROB1 - adrenal hypoplasia (DAX1)|http://www.LOVD.nl/NROB1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NR0B1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NR0B1|LRG_858|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_858.xml" 300473 123902 objectId:635 HGNC:7960 "ENST00000378970.5|NM_000475.5" HGNC:7960 HGNC:7961 NR0B2 nuclear receptor subfamily 0 group B member 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SHP nuclear receptor subfamily 0, group B, member 2 Nuclear receptor subfamily 0 group B 2068 1999-08-19 2015-11-18 2023-01-20 8431 ENSG00000131910 OTTHUMG00000004231 uc001bnf.4 AF044316 NM_021969 CCDS291 Q15466 9603951 MGI:1346344 RGD:621032 604630 objectId:636 HGNC:7961 "ENST00000254227.4|NM_021969.3" HGNC:7961 -HGNC:19692 NRBF2 nuclear receptor binding factor 2 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "DKFZp564C1664|FLJ30395|COPR1|COPR2" "comodulator of PPAR and RXR 1|comodulator of PPAR and RXR 2" PIK3C3 complex subunits 1596 2004-02-10 2023-01-20 29982 ENSG00000148572 OTTHUMG00000018309 uc001jmj.6 D82519 NM_030759 "CCDS7268|CCDS60537" Q96F24 10786636 MGI:1354950 RGD:61937 616477 HGNC:19692 "ENST00000277746.11|NM_030759.5" +HGNC:19692 NRBF2 nuclear receptor binding factor 2 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "DKFZp564C1664|FLJ30395|COPR1|COPR2" "comodulator of PPAR and RXR 1|comodulator of PPAR and RXR 2" PIK3C3 complex subunits 1596 2004-02-10 2023-01-20 29982 ENSG00000148572 OTTHUMG00000018309 uc001jmj.6 D82519 NM_030759 "CCDS60537|CCDS7268" Q96F24 10786636 MGI:1354950 RGD:61937 616477 HGNC:19692 "ENST00000277746.11|NM_030759.5" HGNC:44604 NRBF2P1 nuclear receptor binding factor 2 pseudogene 1 pseudogene pseudogene Approved 18q12.2 18q12.2 2012-11-19 2012-11-19 648532 ENSG00000267797 OTTHUMG00000178768 NG_006647 PGOHUM00000235041 HGNC:44604 HGNC:44605 NRBF2P2 nuclear receptor binding factor 2 pseudogene 2 pseudogene pseudogene Approved 3p21.31 03p21.31 2012-11-19 2012-11-19 100114903 ENSG00000226933 OTTHUMG00000156499 NG_006645 PGOHUM00000238018 HGNC:44605 HGNC:44606 NRBF2P3 nuclear receptor binding factor 2 pseudogene 3 pseudogene pseudogene Approved 1p13.3 01p13.3 2012-11-19 2012-11-19 643232 ENSG00000237415 OTTHUMG00000034490 NG_006643 PGOHUM00000244140 HGNC:44606 HGNC:44607 NRBF2P4 nuclear receptor binding factor 2 pseudogene 4 pseudogene pseudogene Approved 8q23.1 08q23.1 2012-11-19 2012-11-19 728381 ENSG00000253228 OTTHUMG00000164894 NG_006642 PGOHUM00000249773 HGNC:44607 HGNC:44683 NRBF2P5 nuclear receptor binding factor 2 pseudogene 5 pseudogene pseudogene Approved 10p15.1 10p15.1 2012-12-04 2016-08-15 100118954 ENSG00000270427 OTTHUMG00000184677 NG_006646 PGOHUM00000290039 HGNC:44683 HGNC:54797 NRBF2P6 NRBF2 pseudogene 6 pseudogene pseudogene Approved 2q37.1 02q37.1 2020-01-08 2020-01-08 730069 ENSG00000251485 NG_006644 -HGNC:7993 NRBP1 nuclear receptor binding protein 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "BCON3|MUDPNP|MADM" NRBP nuclear receptor binding protein 2000-02-18 2005-12-22 2005-12-22 2023-01-20 29959 ENSG00000115216 OTTHUMG00000097789 uc002rko.4 AF113249 NM_013392 "CCDS82433|CCDS1753" Q9UHY1 "10843813|11956649" MGI:2183436 RGD:1589575 606010 objectId:2126 HGNC:7993 "ENST00000379852.8|NM_013392.4" +HGNC:7993 NRBP1 nuclear receptor binding protein 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "BCON3|MUDPNP|MADM" NRBP nuclear receptor binding protein 2000-02-18 2005-12-22 2005-12-22 2023-01-20 29959 ENSG00000115216 OTTHUMG00000097789 uc002rko.4 AF113249 NM_013392 "CCDS1753|CCDS82433" Q9UHY1 "10843813|11956649" MGI:2183436 RGD:1589575 606010 objectId:2126 HGNC:7993 "ENST00000379852.8|NM_013392.4" HGNC:19339 NRBP2 nuclear receptor binding protein 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 DKFZp434P086 MicroRNA protein coding host genes 1691 2005-01-21 2023-01-20 340371 ENSG00000185189 OTTHUMG00000165157 uc011lkt.3 BC037396 NM_178564 CCDS34959 Q9NSY0 14702039 MGI:2385017 RGD:1591749 615563 objectId:2127 HGNC:19339 "ENST00000442628.7|NM_178564.4" -HGNC:7994 NRCAM neuronal cell adhesion molecule protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "KIAA0343|Bravo" NgCAM-related cell adhesion molecule "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1996-06-19 2023-03-15 4897 ENSG00000091129 OTTHUMG00000154973 uc022aka.2 NM_001037132 "CCDS47686|CCDS55153|CCDS5751|CCDS75652" Q92823 8812479 MGI:104750 RGD:3209 601581 HGNC:7994 "ENST00000379028.8|NM_001037132.4" -HGNC:7995 NRDC nardilysin convertase protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "hNRD1|hNRD2" N-arginine dibasic convertase NRD1 nardilysin (N-arginine dibasic convertase) "M16 metallopeptidases|MicroRNA protein coding host genes" "1440|1691" 1997-12-12 2015-11-11 2015-11-11 2023-01-20 4898 ENSG00000078618 OTTHUMG00000008278 uc001ctc.5 X93207 NM_002525 "CCDS41335|CCDS55599|CCDS559" O43847 "9581555|9479496" MGI:1201386 RGD:3210 602651 3.4.24.61 HGNC:7995 "ENST00000352171.12|NM_001101662.2" +HGNC:7994 NRCAM neuronal cell adhesion molecule protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "KIAA0343|Bravo" NgCAM-related cell adhesion molecule "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1996-06-19 2023-03-15 4897 ENSG00000091129 OTTHUMG00000154973 uc022aka.2 NM_001037132 "CCDS75652|CCDS55153|CCDS5751|CCDS47686" Q92823 8812479 MGI:104750 RGD:3209 601581 HGNC:7994 "ENST00000379028.8|NM_001037132.4" +HGNC:7995 NRDC nardilysin convertase protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "hNRD1|hNRD2" N-arginine dibasic convertase NRD1 nardilysin (N-arginine dibasic convertase) "M16 metallopeptidases|MicroRNA protein coding host genes" "1440|1691" 1997-12-12 2015-11-11 2015-11-11 2023-01-20 4898 ENSG00000078618 OTTHUMG00000008278 uc001ctc.5 X93207 NM_002525 "CCDS55599|CCDS559|CCDS41335" O43847 "9581555|9479496" MGI:1201386 RGD:3210 602651 3.4.24.61 HGNC:7995 "ENST00000352171.12|NM_001101662.2" HGNC:20186 NRDE2 NRDE-2, necessary for RNA interference, domain containing protein-coding gene gene with protein product Approved 14q32.11 14q32.11 FLJ14051 C14orf102 chromosome 14 open reading frame 102 2002-12-20 2012-09-25 2012-09-25 2023-03-15 55051 ENSG00000119720 OTTHUMG00000171020 uc001xyi.3 AK000870 NM_017970 CCDS9890 Q9H7Z3 MGI:2670969 RGD:1565082 618631 HGNC:20186 "ENST00000354366.8|NM_017970.4" HGNC:16834 NREP neuronal regeneration related protein protein-coding gene gene with protein product Approved 5q22.1 05q22.1 "P311|D4S114|PRO1873|PTZ17|SEZ17" neuronal protein 3.1 C5orf13 "chromosome 5 open reading frame 13|neuronal regeneration related protein homolog (rat)" 2003-02-17 2012-01-23 2012-12-07 2023-01-20 9315 ENSG00000134986 OTTHUMG00000128795 uc063fzf.1 AF119859 NM_004772 "CCDS47255|CCDS4105" Q16612 "8261136|10981724|15485502" MGI:99444 RGD:631411 607332 HGNC:16834 "ENST00000257435.12|NM_004772.4" HGNC:40780 NREP-AS1 NREP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q22.1 05q22.1 NREP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2014-11-19 100873948 ENSG00000250095 OTTHUMG00000162860 uc031skr.1 NR_046678 NREP-AS1 HGNC:40780 HGNC:7996 NRF1 nuclear respiratory factor 1 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "EWG|ALPHA-PAL" alpha palindromic-binding protein 1995-11-01 2023-01-20 4899 ENSG00000106459 OTTHUMG00000143736 uc003voz.4 L22454 NM_001040110 "CCDS78273|CCDS5813" Q16656 2584221 MGI:1332235 RGD:1304603 600879 HGNC:7996 "ENST00000393232.6|NM_005011.5" -HGNC:7997 NRG1 neuregulin 1 protein-coding gene gene with protein product Approved 8p12 08p12 "HRG|NDF|GGF" "HGL|NRG1-IT2" NRG1 intronic transcript 2 (non-protein coding) "I-set domain containing|Neuregulins" "593|1629" 1999-03-19 2023-01-20 3084 ENSG00000157168 OTTHUMG00000163918 uc064luk.1 L12261 NM_001159995 "CCDS6083|CCDS6084|CCDS94275|CCDS94274|CCDS6085|CCDS75727|CCDS94271|CCDS94272|CCDS6086|CCDS94276|CCDS94277|CCDS55219|CCDS94273|CCDS94278|CCDS6087|CCDS47836|CCDS55218" Q02297 "1350381|8095334" MGI:96083 RGD:621341 NRG1 142445 ligandId:5027 HGNC:7997 "ENST00000405005.8|NM_013964.5" +HGNC:7997 NRG1 neuregulin 1 protein-coding gene gene with protein product Approved 8p12 08p12 "HRG|NDF|GGF" "HGL|NRG1-IT2" NRG1 intronic transcript 2 (non-protein coding) "I-set domain containing|Neuregulins" "593|1629" 1999-03-19 2023-01-20 3084 ENSG00000157168 OTTHUMG00000163918 uc064luk.1 L12261 NM_001159995 "CCDS94278|CCDS94277|CCDS94276|CCDS94274|CCDS94272|CCDS6085|CCDS47836|CCDS6086|CCDS75727|CCDS94273|CCDS94271|CCDS6083|CCDS55218|CCDS94275|CCDS55219|CCDS6087|CCDS6084" Q02297 "1350381|8095334" MGI:96083 RGD:621341 NRG1 142445 ligandId:5027 HGNC:7997 "ENST00000405005.8|NM_013964.5" HGNC:43633 NRG1-IT1 NRG1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 8p12 08p12 NRG1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-12-06 2015-02-25 2015-02-25 100856811 ENSG00000253974 OTTHUMG00000163966 uc033bgv.2 BC037250 NR_104156 NRG1-IT1 HGNC:43633 HGNC:43635 NRG1-IT3 NRG1 intronic transcript 3 non-coding RNA RNA, long non-coding Approved 8p12 08p12 NRG1 intronic transcript 3 (non-protein coding) Intronic transcripts 1989 2011-12-06 2015-02-25 2015-02-25 100874286 ENSG00000254049 OTTHUMG00000164003 uc031tau.1 NR_047475 NRG1-IT3 HGNC:43635 HGNC:7998 NRG2 neuregulin 2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "Don-1|NTAK|HRG2" "neural- and thymus-derived activator for ErbB kinases|divergent of neuregulin-1" "I-set domain containing|Neuregulins" "593|1629" 1999-03-19 2023-03-15 9542 ENSG00000158458 OTTHUMG00000129241 uc003lex.3 NM_013982 "CCDS4217|CCDS54910|CCDS93793" O14511 "9168114|9168115" MGI:1098246 RGD:1303302 603818 ligandId:5029 HGNC:7998 "ENST00000361474.6|NM_004883.3" -HGNC:7999 NRG3 neuregulin 3 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 Neuregulins 1629 1999-03-19 2023-01-20 10718 ENSG00000185737 OTTHUMG00000018626 uc001kco.3 AK098823 NM_001010848 "CCDS31233|CCDS91287|CCDS53547" P56975 9275162 MGI:1097165 RGD:1559678 605533 ligandId:5030 HGNC:7999 "ENST00000372141.7|NM_001010848.4" +HGNC:7999 NRG3 neuregulin 3 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 Neuregulins 1629 1999-03-19 2023-01-20 10718 ENSG00000185737 OTTHUMG00000018626 uc001kco.3 AK098823 NM_001010848 "CCDS53547|CCDS91287|CCDS31233" P56975 9275162 MGI:1097165 RGD:1559678 605533 ligandId:5030 HGNC:7999 "ENST00000372141.7|NM_001010848.4" HGNC:31429 NRG3-AS1 NRG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 Em:AC010157.1 C10orf100 "chromosome 10 open reading frame 100|NRG3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2012-05-31 2012-08-15 2020-04-20 101929590 ENSG00000225738 OTTHUMG00000018624 uc057uod.1 "CF272718|AA383013|DB052745" NR_120666 NRG3-AS1 HGNC:31429 HGNC:29862 NRG4 neuregulin 4 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 HRG4 Neuregulins 1629 2005-10-30 2023-01-20 145957 ENSG00000169752 OTTHUMG00000142917 uc002bbo.5 BC017568 NM_138573 CCDS10288 Q8WWG1 25401691 MGI:1933833 RGD:1589860 610894 ligandId:5031 HGNC:29862 "ENST00000394907.8|NM_138573.4" HGNC:8000 NRGN neurogranin protein-coding gene gene with protein product Approved 11q24.2 11q24.2 RC3 neurogranin (protein kinase C substrate, RC3) 1996-07-17 2015-11-20 2023-01-20 4900 ENSG00000154146 OTTHUMG00000165928 uc001qaq.3 "X99075|X99076" NM_006176 CCDS8451 Q92686 9143500 MGI:1927184 RGD:61833 602350 HGNC:8000 "ENST00000284292.11|NM_006176.3" @@ -23125,25 +23127,25 @@ HGNC:8001 NRIP1 nuclear receptor interacting protein 1 protein-coding gene gene HGNC:23078 NRIP2 nuclear receptor interacting protein 2 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 DKFZP761G1913 Peptidase family A28 2098 2003-09-03 2023-01-20 83714 ENSG00000053702 OTTHUMG00000130616 uc001qlc.4 AK054740 NM_031474 CCDS8514 Q9BQI9 10860982 MGI:1891884 RGD:1589959 HGNC:23078 "ENST00000337508.9|NM_031474.3" HGNC:1167 NRIP3 nuclear receptor interacting protein 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 C11orf14 chromosome 11 open reading frame 14 Peptidase family A28 2098 2000-07-31 2003-09-05 2003-09-03 2023-01-20 56675 ENSG00000175352 OTTHUMG00000165680 uc001mhg.2 AJ400877 NM_020645 CCDS31422 Q9NQ35 11528127 MGI:1925843 RGD:1304777 613125 HGNC:1167 "ENST00000309166.8|NM_020645.3" HGNC:55524 NRIP3-DT NRIP3 divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Divergent transcripts 1990 2021-03-18 2021-03-18 105376541 ENSG00000253973 NR_183663 -HGNC:51269 NRIR negative regulator of interferon response non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 "lncRNA-CMPK2|lncCMPK2" negative regulator of interferon response (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-09-04 2018-05-16 2020-04-01 104326052 ENSG00000225964 OTTHUMG00000151730 BQ437827 NR_126359 "25122750|26474526" NRIR HGNC:51269 +HGNC:51269 NRIR negative regulator of interferon response non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 "lncRNA-CMPK2|lncCMPK2" negative regulator of interferon response (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-09-04 2018-05-16 2020-04-01 104326052 ENSG00000225964 OTTHUMG00000151730 BQ437827 NR_126359 "25122750|26474526" 620418 NRIR HGNC:51269 HGNC:25391 NRK Nik related kinase protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 DKFZp686A17109 2004-08-16 2023-01-20 203447 ENSG00000123572 OTTHUMG00000022143 uc065ans.1 BX538345 NM_198465 CCDS65305 Q7Z2Y5 MGI:1351326 RGD:1566163 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NRK 300791 objectId:2128 HGNC:25391 "ENST00000243300.14|NM_198465.4" HGNC:8002 NRL neural retina leucine zipper protein-coding gene gene with protein product Approved 14q11.2-q12 14q11.2-q12 "D14S46E|RP27|NRL-MAF" Basic leucine zipper proteins 506 1997-05-22 2023-01-20 4901 ENSG00000129535 OTTHUMG00000028789 uc001wlq.4 NM_001354768 CCDS9608 P54845 "1427865|10192380" MGI:102567 RGD:1305197 Mutations of the Neuroretina-linked Leucine Zipper Gene|http://www.retina-international.org/files/sci-news/nrlmut.htm 162080 123930 HGNC:8002 "ENST00000561028.6|NM_001354768.3" HGNC:8002 -HGNC:8003 NRM nurim protein-coding gene gene with protein product Approved 6p21.33 06p21.33 NRM29 nurim (nuclear envelope membrane protein) 1999-09-20 2017-08-07 2023-01-20 11270 ENSG00000137404 OTTHUMG00000031223 uc003nrc.4 AF143676 NM_001270707 "CCDS4686|CCDS59498" Q8IXM6 "10402458|17517639" MGI:2146855 RGD:1302966 620017 HGNC:8003 "ENST00000376421.7|NM_001384369.1" +HGNC:8003 NRM nurim protein-coding gene gene with protein product Approved 6p21.33 06p21.33 NRM29 nurim (nuclear envelope membrane protein) 1999-09-20 2017-08-07 2023-01-20 11270 ENSG00000137404 OTTHUMG00000031223 uc003nrc.4 AF143676 NM_001270707 "CCDS59498|CCDS4686" Q8IXM6 "10402458|17517639" MGI:2146855 RGD:1302966 620017 HGNC:8003 "ENST00000376421.7|NM_001384369.1" HGNC:17972 NRN1 neuritin 1 protein-coding gene gene with protein product Approved 6p25.1 06p25.1 NRN 2002-05-29 2023-01-20 51299 ENSG00000124785 OTTHUMG00000014184 uc032wjw.2 AF136631 NM_001278710 "CCDS75393|CCDS4495" Q9NPD7 9122250 MGI:1915654 RGD:621586 607409 HGNC:17972 "ENST00000244766.7|NM_016588.3" HGNC:29811 NRN1L neuritin 1 like protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "UNQ2446|MRCC2446" 2007-02-07 2016-01-05 2023-01-20 123904 ENSG00000188038 OTTHUMG00000137541 uc002euu.4 AY358782 NM_198443 CCDS10850 Q496H8 12975309 MGI:2443642 RGD:2301010 HGNC:29811 "ENST00000339176.8|NM_198443.2" HGNC:37079 NRON non-coding repressor of NFAT non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 NCRNA00194 "noncoding repressor of NFAT|non-protein coding RNA 194" non-protein coding RNA, repressor of NFAT Long non-coding RNAs with non-systematic symbols 1992 2009-07-16 2018-09-07 2020-11-17 641373 ENSG00000253079 uc022bnj.2 NR_045006 "16141075|29545945" MGI:2444126 609618 NRON NRON HGNC:37079 -HGNC:8004 NRP1 neuropilin 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "NRP|VEGF165R|CD304" CD molecules 471 1998-12-23 2023-01-20 8829 ENSG00000099250 OTTHUMG00000019343 uc057srb.1 AF016050 NM_001024628 "CCDS81448|CCDS31179|CCDS31180|CCDS7177" O14786 "9529250|9331348" MGI:106206 RGD:621588 602069 470794 objectId:2998 CD304 HGNC:8004 "ENST00000374867.7|NM_003873.7" -HGNC:8005 NRP2 neuropilin 2 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 VEGF165R2 1998-12-23 2023-01-20 8828 ENSG00000118257 OTTHUMG00000132893 uc002vau.4 AF016098 NM_003872 "CCDS2364|CCDS2365|CCDS46496|CCDS46497|CCDS46498|CCDS46499" O60462 "9529250|9331348" MGI:1100492 RGD:621442 602070 HGNC:8005 "ENST00000357785.10|NM_003872.3" +HGNC:8004 NRP1 neuropilin 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "NRP|VEGF165R|CD304" CD molecules 471 1998-12-23 2023-01-20 8829 ENSG00000099250 OTTHUMG00000019343 uc057srb.1 AF016050 NM_001024628 "CCDS31180|CCDS31179|CCDS7177|CCDS81448" O14786 "9529250|9331348" MGI:106206 RGD:621588 602069 470794 objectId:2998 CD304 HGNC:8004 "ENST00000374867.7|NM_003873.7" +HGNC:8005 NRP2 neuropilin 2 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 VEGF165R2 1998-12-23 2023-01-20 8828 ENSG00000118257 OTTHUMG00000132893 uc002vau.4 AF016098 NM_003872 "CCDS46496|CCDS46498|CCDS46497|CCDS2364|CCDS2365|CCDS46499" O60462 "9529250|9331348" MGI:1100492 RGD:621442 602070 HGNC:8005 "ENST00000357785.10|NM_003872.3" HGNC:24613 NRROS negative regulator of reactive oxygen species protein-coding gene gene with protein product Approved 3q29 03q29 "UNQ3030|ELLP3030|MGC50789|GARPL1" glycoprotein A repetitions predominant like 1 LRRC33 leucine rich repeat containing 33 2005-02-25 2013-07-02 2013-07-02 2023-01-20 375387 ENSG00000174004 OTTHUMG00000155569 AY358322 NM_198565 CCDS3319 Q86YC3 "12975309|24739962" MGI:2445095 RGD:1310771 615322 HGNC:24613 "ENST00000328557.5|NM_198565.3" HGNC:24613 HGNC:17881 NRSN1 neurensin 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 p24 VMP vesicular membrane protein p24 2002-01-16 2006-07-04 2006-07-04 2023-01-20 140767 ENSG00000152954 OTTHUMG00000016406 uc010jpq.1 AF418980 NM_080723 CCDS4549 Q8IZ57 12463420 MGI:894662 RGD:1307833 616630 HGNC:17881 "ENST00000378491.9|NM_080723.5" HGNC:16229 NRSN2 neurensin 2 protein-coding gene gene with protein product Approved 20p13 20p13 dJ1103G7.6 C20orf98 chromosome 20 open reading frame 98 2001-07-17 2006-07-04 2006-07-04 2023-01-20 80023 ENSG00000125841 OTTHUMG00000031628 uc002wdi.5 AL136915 NM_024958 CCDS12996 Q9GZP1 "16527258|26055238" MGI:2684969 RGD:1586322 610666 HGNC:16229 "ENST00000382285.7|NM_001323682.2" HGNC:51222 NRSN2-AS1 NRSN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 Antisense RNAs 1987 2014-08-08 2014-08-08 100507459 ENSG00000225377 OTTHUMG00000031624 BG249690 NR_109990 NRSN2-AS1 HGNC:51222 HGNC:8007 NRTN neurturin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 NTN prepro-neurturin GDNF family ligands 1586 1997-05-15 2023-01-20 4902 ENSG00000171119 OTTHUMG00000180555 uc002mde.4 U78110 NM_004558 CCDS12151 Q99748 8945474 MGI:108417 RGD:621494 602018 123934 ligandId:5032 HGNC:8007 "ENST00000303212.3|NM_004558.5" -HGNC:8008 NRXN1 neurexin 1 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "KIAA0578|Hs.22998" "Neurexins|MicroRNA protein coding host genes" "1582|1691" 1998-10-14 2023-01-20 9378 ENSG00000179915 OTTHUMG00000129263 uc061jbg.1 AB011150 NM_001135659 "CCDS86840|CCDS86838|CCDS54360|CCDS82446|CCDS82449|CCDS82450|CCDS46282|CCDS1845|CCDS82451|CCDS82444|CCDS82447|CCDS82445" "P58400|Q9ULB1" MGI:1096391 RGD:628659 600565 201091 HGNC:8008 "ENST00000401669.7|NM_001330078.2" HGNC:8008 -HGNC:8009 NRXN2 neurexin 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 neurexin II Neurexins 1582 1998-10-14 2023-01-20 9379 ENSG00000110076 OTTHUMG00000045214 uc021qkw.2 NM_015080 "CCDS8077|CCDS91500|CCDS31597|CCDS8078" "P58401|Q9P2S2" 1621094 MGI:1096362 RGD:620211 600566 470796 HGNC:8009 "ENST00000265459.11|NM_015080.4" HGNC:8009 +HGNC:8008 NRXN1 neurexin 1 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "KIAA0578|Hs.22998" "Neurexins|MicroRNA protein coding host genes" "1582|1691" 1998-10-14 2023-01-20 9378 ENSG00000179915 OTTHUMG00000129263 uc061jbg.1 AB011150 NM_001135659 "CCDS54360|CCDS82446|CCDS82450|CCDS82445|CCDS82447|CCDS82444|CCDS82449|CCDS86838|CCDS86840|CCDS82451|CCDS1845|CCDS46282" "P58400|Q9ULB1" MGI:1096391 RGD:628659 600565 201091 HGNC:8008 "ENST00000401669.7|NM_001330078.2" HGNC:8008 +HGNC:8009 NRXN2 neurexin 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 neurexin II Neurexins 1582 1998-10-14 2023-01-20 9379 ENSG00000110076 OTTHUMG00000045214 uc021qkw.2 NM_015080 "CCDS8077|CCDS8078|CCDS91500|CCDS31597" "P58401|Q9P2S2" 1621094 MGI:1096362 RGD:620211 600566 470796 HGNC:8009 "ENST00000265459.11|NM_015080.4" HGNC:8009 HGNC:40416 NRXN2-AS1 NRXN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Antisense RNAs 1987 2019-08-16 2019-08-16 107984337 ENSG00000237410 OTTHUMG00000133666 XR_001748259 HGNC:40416 -HGNC:8010 NRXN3 neurexin 3 protein-coding gene gene with protein product Approved 14q24.3-q31.1 14q24.3-q31.1 KIAA0743 C14orf60 chromosome 14 open reading frame 60 Neurexins 1582 1998-10-14 2023-01-20 9369 ENSG00000021645 OTTHUMG00000171502 uc284nlf.1 AB018286 NM_001105250 "CCDS9870|CCDS81831|CCDS45145|CCDS9871|CCDS91913|CCDS61515" "Q9HDB5|Q9Y4C0" "11944992|12379233" MGI:1096389 RGD:620212 600567 HGNC:8010 "ENST00000335750.7|NM_001330195.2" HGNC:8010 -HGNC:30728 NSA2 NSA2 ribosome biogenesis factor protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "HUSSY-29|HCLG1|FLJ94393|TINP1" "hairy cell leukemia protein 1|TGF beta-inducible nuclear protein 1" "NSA2 ribosome biogenesis homolog (S. cerevisiae)|NSA2, ribosome biogenesis homolog" Ribosomal biogenesis factors 1729 2009-09-02 2019-01-22 2023-01-20 10412 ENSG00000164346 OTTHUMG00000131273 uc003kdk.3 AF077615 NM_014886 "CCDS4025|CCDS75260" O95478 "11124703|10486207|30243719" MGI:1913883 RGD:621335 612497 HGNC:30728 "ENST00000610426.5|NM_014886.6" +HGNC:8010 NRXN3 neurexin 3 protein-coding gene gene with protein product Approved 14q24.3-q31.1 14q24.3-q31.1 KIAA0743 C14orf60 chromosome 14 open reading frame 60 Neurexins 1582 1998-10-14 2023-01-20 9369 ENSG00000021645 OTTHUMG00000171502 uc284nlf.1 AB018286 NM_001105250 "CCDS81831|CCDS61515|CCDS91913|CCDS45145|CCDS9871|CCDS9870" "Q9HDB5|Q9Y4C0" "11944992|12379233" MGI:1096389 RGD:620212 600567 HGNC:8010 "ENST00000335750.7|NM_001330195.2" HGNC:8010 +HGNC:30728 NSA2 NSA2 ribosome biogenesis factor protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "HUSSY-29|HCLG1|FLJ94393|TINP1" "hairy cell leukemia protein 1|TGF beta-inducible nuclear protein 1" "NSA2 ribosome biogenesis homolog (S. cerevisiae)|NSA2, ribosome biogenesis homolog" Ribosomal biogenesis factors 1729 2009-09-02 2019-01-22 2023-01-20 10412 ENSG00000164346 OTTHUMG00000131273 uc003kdk.3 AF077615 NM_014886 "CCDS75260|CCDS4025" O95478 "11124703|10486207|30243719" MGI:1913883 RGD:621335 612497 HGNC:30728 "ENST00000610426.5|NM_014886.6" HGNC:54580 NSA2P1 NSA2 pseudogene 1 pseudogene pseudogene Approved 1q32.1 01q32.1 2019-10-16 2019-10-16 100421749 ENSG00000236035 NG_027032 HGNC:54581 NSA2P2 NSA2 pseudogene 2 pseudogene pseudogene Approved 12q22 12q22 2019-10-16 2019-10-16 400061 ENSG00000258357 NG_021697 HGNC:54582 NSA2P3 NSA2 pseudogene 3 pseudogene pseudogene Approved Xq22.1 Xq22.1 2019-10-16 2019-10-16 100132658 ENSG00000179031 NG_022683 @@ -23152,38 +23154,38 @@ HGNC:54584 NSA2P5 NSA2 pseudogene 5 pseudogene pseudogene Approved 2q31.1 02q31. HGNC:54587 NSA2P6 NSA2 pseudogene 6 pseudogene pseudogene Approved 4q31.3 04q31.3 2019-10-16 2019-10-16 100421721 ENSG00000250980 NG_025178 HGNC:54588 NSA2P7 NSA2 pseudogene 7 pseudogene pseudogene Approved 9q22.32 09q22.32 2019-10-16 2019-10-16 100421693 ENSG00000238251 NG_023944 HGNC:14234 NSD1 nuclear receptor binding SET domain protein 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "ARA267|FLJ22263|KMT3B" STO Sotos syndrome "PHD finger proteins|Lysine methyltransferases|PWWP domain containing" "88|487|1147" 2002-02-25 2003-03-12 2023-01-20 64324 ENSG00000165671 OTTHUMG00000130846 uc003mfr.5 AK026066 NM_172349 CCDS4412 Q96L73 "9628876|11896389" MGI:1276545 RGD:1307748 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NSD1|LRG_512|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_512.xml" NSD1 606681 123937 objectId:2696 HGNC:14234 "ENST00000439151.7|NM_022455.5" HGNC:14234 -HGNC:12766 NSD2 nuclear receptor binding SET domain protein 2 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "MMSET|KMT3G" multiple myeloma SET domain containing protein WHSC1 Wolf-Hirschhorn syndrome candidate 1 "PHD finger proteins|Lysine methyltransferases|PWWP domain containing|SET domain containing" "88|487|1147|1399" 1998-06-25 2016-11-18 2016-11-18 2023-03-15 7468 ENSG00000109685 OTTHUMG00000121147 uc003gdz.5 AF083386 NM_133330 "CCDS33940|CCDS3356|CCDS46999" O96028 "9618163|9787135" MGI:1276574 RGD:1307955 NSD2 602952 120521 objectId:3220 HGNC:12766 "ENST00000508803.6|NM_001042424.3" HGNC:12766 +HGNC:12766 NSD2 nuclear receptor binding SET domain protein 2 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "MMSET|KMT3G" multiple myeloma SET domain containing protein WHSC1 Wolf-Hirschhorn syndrome candidate 1 "PHD finger proteins|Lysine methyltransferases|PWWP domain containing|SET domain containing" "88|487|1147|1399" 1998-06-25 2016-11-18 2016-11-18 2023-03-15 7468 ENSG00000109685 OTTHUMG00000121147 uc003gdz.5 AF083386 NM_133330 "CCDS46999|CCDS33940|CCDS3356" O96028 "9618163|9787135" MGI:1276574 RGD:1307955 NSD2 602952 120521 objectId:3220 HGNC:12766 "ENST00000508803.6|NM_001042424.3" HGNC:12766 HGNC:12767 NSD3 nuclear receptor binding SET domain protein 3 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "FLJ20353|WHISTLE|KMT3F" WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 "PHD finger proteins|Lysine methyltransferases|PWWP domain containing|SET domain containing" "88|487|1147|1399" 2000-05-02 2016-11-18 2016-11-18 2023-01-20 54904 ENSG00000147548 OTTHUMG00000165115 uc003xli.4 AF332469 NM_023034 "CCDS6105|CCDS43729" Q9BZ95 "10802047|23269674" MGI:2142581 RGD:1308980 NSD3 607083 HGNC:12767 "ENST00000317025.13|NM_023034.2" HGNC:13398 NSDHL NAD(P) dependent steroid dehydrogenase-like protein-coding gene gene with protein product Approved Xq28 Xq28 "XAP104|H105e3|SDR31E1" short chain dehydrogenase/reductase family 31E, member 1 Short chain dehydrogenase/reductase superfamily 743 2004-04-30 2023-01-20 50814 ENSG00000147383 OTTHUMG00000024185 uc004fgs.2 X96621 NM_015922 CCDS14717 Q15738 "10710235|12837764|19027726" MGI:1099438 RGD:1359337 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NSDHL 300275 123942 1.1.1.170 HGNC:13398 "ENST00000370274.8|NM_015922.3" HGNC:13398 HGNC:8016 NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "SKD2|SEC18" N-ethylmaleimide-sensitive factor-like protein "N-ethylmaleimide-sensitive factor|N-ethylmaleimide sensitive factor" AAA ATPases 413 1996-08-28 2016-07-01 2023-01-20 4905 ENSG00000073969 OTTHUMG00000134315 uc002iku.4 NM_006178 CCDS42354 P46459 "1315316|8875895" MGI:104560 RGD:621594 601633 3.6.4.6 HGNC:8016 "ENST00000398238.8|NM_006178.4" HGNC:8016 -HGNC:15912 NSFL1C NSFL1 cofactor protein-coding gene gene with protein product Approved 20p13 20p13 "dJ776F14.1|p47|UBXD10|UBX1|UBXN2C" "SHP1 homolog (S. cerevisiae)|UBX domain protein 2C" NSFL1 (p97) cofactor (p47) UBX domain containing 364 2001-06-21 2016-04-25 2023-03-15 55968 ENSG00000088833 OTTHUMG00000031665 uc002wfc.3 AF112211 NM_016143 "CCDS56175|CCDS13016|CCDS13015" Q9UNZ2 11042152 MGI:3042273 RGD:619952 606610 HGNC:15912 "ENST00000216879.9|NM_016143.5" +HGNC:15912 NSFL1C NSFL1 cofactor protein-coding gene gene with protein product Approved 20p13 20p13 "dJ776F14.1|p47|UBXD10|UBX1|UBXN2C" "SHP1 homolog (S. cerevisiae)|UBX domain protein 2C" NSFL1 (p97) cofactor (p47) UBX domain containing 364 2001-06-21 2016-04-25 2023-03-15 55968 ENSG00000088833 OTTHUMG00000031665 uc002wfc.3 AF112211 NM_016143 "CCDS13015|CCDS13016|CCDS56175" Q9UNZ2 11042152 MGI:3042273 RGD:619952 606610 HGNC:15912 "ENST00000216879.9|NM_016143.5" HGNC:31405 NSFP1 N-ethylmaleimide-sensitive factor pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 NSFP N-ethylmaleimide-sensitive factor pseudogene 2004-04-06 2010-02-26 2010-02-26 2020-04-20 728806 ENSG00000260075 OTTHUMG00000177127 NR_033799 PGOHUM00000294460 HGNC:31405 HGNC:18790 NSG1 neuronal vesicle trafficking associated 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "P21|D4S234E|NEEP21" "DNA segment on chromosome 4 (unique) 234 expressed sequence|neuron-enriched endosomal protein of 21 kD|neuron specific gene family member 1" 2017-06-23 2023-01-20 27065 ENSG00000168824 OTTHUMG00000160002 NM_001040101 "CCDS3376|CCDS93472" P42857 "9013775|16037816|18299352|25376768" MGI:109149 RGD:2222 607645 HGNC:18790 "ENST00000621129.5|NM_014392.5" HGNC:24955 NSG2 neuronal vesicle trafficking associated 2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "HMP19|CALY3" calcyon family member 3 2017-06-23 2023-01-20 51617 ENSG00000170091 OTTHUMG00000130543 NM_015980 CCDS4391 Q9Y328 "7829526|15383276|25376768" MGI:1202070 RGD:1563944 616752 HGNC:24955 "ENST00000303177.8|NM_015980.5" -HGNC:24548 NSL1 NSL1 component of MIS12 kinetochore complex protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "DC8|DKFZP566O1646|MIS14" C1orf48 "chromosome 1 open reading frame 48|NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)|NSL1, MIS12 kinetochore complex component" MIS12 kinetochore complex 1322 2004-11-17 2006-11-07 2019-01-25 2023-01-20 25936 ENSG00000117697 OTTHUMG00000036806 uc001hjn.4 AF255793 NM_015471 "CCDS73025|CCDS1509|CCDS53474" Q96IY1 20819937 MGI:2685830 RGD:1562052 609174 HGNC:24548 "ENST00000366977.8|NM_015471.4" -HGNC:8017 NSMAF neutral sphingomyelinase activation associated factor protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "FAN|GRAMD5" neutral sphingomyelinase (N-SMase) activation associated factor "WD repeat domain containing|GRAM domain containing|BEACH domain containing " "362|1146|1230" 1998-11-04 2015-11-10 2023-01-20 8439 ENSG00000035681 OTTHUMG00000164352 uc003xtt.4 X96586 NM_003580 "CCDS47864|CCDS6173" Q92636 "8808629|10640829" MGI:1341864 RGD:727868 603043 objectId:2495 HGNC:8017 "ENST00000038176.8|NM_003580.4" +HGNC:24548 NSL1 NSL1 component of MIS12 kinetochore complex protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "DC8|DKFZP566O1646|MIS14" C1orf48 "chromosome 1 open reading frame 48|NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)|NSL1, MIS12 kinetochore complex component" MIS12 kinetochore complex 1322 2004-11-17 2006-11-07 2019-01-25 2023-01-20 25936 ENSG00000117697 OTTHUMG00000036806 uc001hjn.4 AF255793 NM_015471 "CCDS53474|CCDS1509|CCDS73025" Q96IY1 20819937 MGI:2685830 RGD:1562052 609174 HGNC:24548 "ENST00000366977.8|NM_015471.4" +HGNC:8017 NSMAF neutral sphingomyelinase activation associated factor protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "FAN|GRAMD5" neutral sphingomyelinase (N-SMase) activation associated factor "WD repeat domain containing|GRAM domain containing|BEACH domain containing " "362|1146|1230" 1998-11-04 2015-11-10 2023-01-20 8439 ENSG00000035681 OTTHUMG00000164352 uc003xtt.4 X96586 NM_003580 "CCDS6173|CCDS47864" Q92636 "8808629|10640829" MGI:1341864 RGD:727868 603043 objectId:2495 HGNC:8017 "ENST00000038176.8|NM_003580.4" HGNC:29897 NSMCE1 NSE1 homolog, SMC5-SMC6 complex component protein-coding gene gene with protein product Approved 16p12.1 16p12.1 NSE1 non-SMC element 1 homolog (S. cerevisiae) "Ring finger proteins|SMC5-6 protein complex" "58|1034" 2005-01-12 2015-07-03 2023-01-20 197370 ENSG00000169189 OTTHUMG00000131674 uc002doi.2 AF161451 NM_145080 CCDS10628 Q8WV22 11927594 MGI:1914961 RGD:1307760 617263 HGNC:29897 "ENST00000361439.9|NM_145080.4" HGNC:51368 NSMCE1-DT NSMCE1 divergent transcript non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 Divergent transcripts 1990 2018-08-15 2018-08-15 400512 ENSG00000245888 OTTHUMG00000177039 BC044845 NR_037184 HGNC:51368 HGNC:26513 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "FLJ32440|MMS21|NSE2|ZMIZ7" zinc finger, MIZ-type containing 7 C8orf36 "chromosome 8 open reading frame 36|non-SMC element 2 homolog (MMS21, S. cerevisiae)|non-SMC element 2, MMS21 homolog (S. cerevisiae)|NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase" "Zinc fingers MIZ-type|SMC5-6 protein complex" "85|1034" 2005-07-27 2006-07-05 2018-02-23 2023-01-20 286053 ENSG00000156831 OTTHUMG00000164993 uc003yrw.3 AK057002 NM_173685 "CCDS6356|CCDS87625" Q96MF7 "16055714|21550342" MGI:1915751 RGD:1305156 617246 444717 HGNC:26513 "ENST00000287437.8|NM_173685.4" HGNC:26513 HGNC:7677 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "HCA4|MAGEG1|MAGEL3|NSE3" NDNL2 "necdin-like 2|necdin-like 2, SMC5-SMC6 complex component" "SMC5-6 protein complex|MAGE family" "1034|1136" 2000-06-19 2015-11-19 2015-11-19 2023-01-20 56160 ENSG00000185115 OTTHUMG00000129261 uc001zco.4 AF490510 NM_138704 CCDS10023 Q96MG7 18086888 MGI:1913897 RGD:1309206 608243 HGNC:7677 "ENST00000332303.6|NM_138704.4" -HGNC:25935 NSMCE4A NSE4 homolog A, SMC5-SMC6 complex component protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "FLJ20003|bA500G22.3|NSE4A" C10orf86 "chromosome 10 open reading frame 86|non-SMC element 4 homolog A (S. cerevisiae)|NSE4 homolog, SMC5-SMC6 complex component A" SMC5-6 protein complex 1034 2004-03-16 2006-11-24 2015-07-30 2023-01-20 54780 ENSG00000107672 OTTHUMG00000019180 uc001lfs.4 AF258584 NM_017615 "CCDS91366|CCDS7624" Q9NXX6 "15752197|18086888" MGI:1915122 RGD:1309025 612987 HGNC:25935 "ENST00000369023.8|NM_017615.3" -HGNC:29843 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor protein-coding gene gene with protein product Approved 9q34.3 09q34.3 NELF nasal embryonic LHRH factor MicroRNA protein coding host genes 1691 2004-03-25 2013-01-14 2013-01-14 2023-01-20 26012 ENSG00000165802 OTTHUMG00000020989 uc004cmz.4 NM_015537 "CCDS48069|CCDS55357|CCDS48067|CCDS7044|CCDS48068" Q6X4W1 "11230166|10898796" MGI:1861755 RGD:619819 608137 123757 HGNC:29843 "ENST00000371475.9|NM_001130969.3" HGNC:29843 -HGNC:25305 NSRP1 nuclear speckle splicing regulatory protein 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "DKFZP434K1421|NSrp70" CCDC55 coiled-coil domain containing 55 MicroRNA protein coding host genes 1691 2006-01-12 2011-05-24 2011-05-24 2023-01-20 84081 ENSG00000126653 OTTHUMG00000132754 uc002heu.5 AL136806 NM_032141 "CCDS74025|CCDS11255" Q9H0G5 11230166 MGI:2144305 RGD:1309863 616173 HGNC:25305 "ENST00000247026.10|NM_032141.4" +HGNC:25935 NSMCE4A NSE4 homolog A, SMC5-SMC6 complex component protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "FLJ20003|bA500G22.3|NSE4A" C10orf86 "chromosome 10 open reading frame 86|non-SMC element 4 homolog A (S. cerevisiae)|NSE4 homolog, SMC5-SMC6 complex component A" SMC5-6 protein complex 1034 2004-03-16 2006-11-24 2015-07-30 2023-01-20 54780 ENSG00000107672 OTTHUMG00000019180 uc001lfs.4 AF258584 NM_017615 "CCDS7624|CCDS91366" Q9NXX6 "15752197|18086888" MGI:1915122 RGD:1309025 612987 HGNC:25935 "ENST00000369023.8|NM_017615.3" +HGNC:29843 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor protein-coding gene gene with protein product Approved 9q34.3 09q34.3 NELF nasal embryonic LHRH factor MicroRNA protein coding host genes 1691 2004-03-25 2013-01-14 2013-01-14 2023-01-20 26012 ENSG00000165802 OTTHUMG00000020989 uc004cmz.4 NM_015537 "CCDS48069|CCDS48068|CCDS48067|CCDS55357|CCDS7044" Q6X4W1 "11230166|10898796" MGI:1861755 RGD:619819 608137 123757 HGNC:29843 "ENST00000371475.9|NM_001130969.3" HGNC:29843 +HGNC:25305 NSRP1 nuclear speckle splicing regulatory protein 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "DKFZP434K1421|NSrp70" CCDC55 coiled-coil domain containing 55 MicroRNA protein coding host genes 1691 2006-01-12 2011-05-24 2011-05-24 2023-01-20 84081 ENSG00000126653 OTTHUMG00000132754 uc002heu.5 AL136806 NM_032141 "CCDS11255|CCDS74025" Q9H0G5 11230166 MGI:2144305 RGD:1309863 616173 HGNC:25305 "ENST00000247026.10|NM_032141.4" HGNC:38087 NSRP1P1 nuclear speckle splicing regulatory protein 1 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 CCDC55P1 coiled-coil domain containing 55 pseudogene 1 2010-04-13 2011-05-24 2011-05-24 2014-11-18 100420557 ENSG00000235613 OTTHUMG00000040562 NG_022784 PGOHUM00000244763 HGNC:38087 HGNC:25994 NSUN2 NOP2/Sun RNA methyltransferase 2 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 "FLJ20303|TRM4|Misu|SAKI" "tRNA methyltransferase 4 homolog (S. cerevisiae)|Myc-induced SUN-domain-containing protein|RNA cytosine C(5)-methyltransferase NSUN2" MRT5 "NOL1/NOP2/Sun domain family, member 2|NOP2/Sun domain family, member 2|mental retardation, non-syndromic, autosomal recessive, 5" NOP2/Sun RNA methyltransferase family 664 2004-08-25 2019-02-26 2023-01-20 54888 ENSG00000037474 OTTHUMG00000090455 uc003jdu.4 AK000310 NM_017755 "CCDS3869|CCDS54832" Q08J23 "17071714|22541559|28418038" MGI:107252 RGD:1311954 610916 302903 2.1.1.203 HGNC:25994 "ENST00000264670.11|NM_017755.6" HGNC:25994 HGNC:26208 NSUN3 NOP2/Sun RNA methyltransferase 3 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 FLJ22609 tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial "NOL1/NOP2/Sun domain family, member 3|NOP2/Sun RNA methyltransferase family member 3" NOP2/Sun RNA methyltransferase family 664 2004-08-25 2019-02-26 2023-01-20 63899 ENSG00000178694 OTTHUMG00000159025 uc003drl.2 BC020602 NM_022072 CCDS2927 Q9H649 "27356879|27214402" MGI:2146565 RGD:2322119 617491 2.1.1.203 HGNC:26208 "ENST00000314622.9|NM_022072.5" HGNC:26208 -HGNC:31802 NSUN4 NOP2/Sun RNA methyltransferase 4 protein-coding gene gene with protein product Approved 1p33 01p33 "MGC22960|SHTAP" sperm head and tail associated protein "NOL1/NOP2/Sun domain family, member 4|NOP2/Sun RNA methyltransferase family member 4" NOP2/Sun RNA methyltransferase family 664 2004-08-25 2019-02-26 2023-01-20 387338 ENSG00000117481 OTTHUMG00000007808 uc001cpr.3 AK021577 NM_199044 "CCDS534|CCDS57996" Q96CB9 24516400 MGI:1919431 RGD:1559652 615394 HGNC:31802 "ENST00000474844.6|NM_199044.4" -HGNC:16385 NSUN5 NOP2/Sun RNA methyltransferase 5 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "NOL1R|p120(NOL1)|FLJ10267|NSUN5A|Ynl022cL" NOP2/Sun domain family, member 5A "WBSCR20|WBSCR20A" "Williams Beuren syndrome chromosome region 20A|NOL1/NOP2/Sun domain family, member 5|NOP2/Sun domain family, member 5" NOP2/Sun RNA methyltransferase family 664 2001-08-24 2005-01-14 2019-02-26 2023-01-20 55695 ENSG00000130305 OTTHUMG00000129869 uc011kev.4 AF420249 NM_148956 "CCDS55118|CCDS55119|CCDS5546|CCDS5547" Q96P11 "11978965|12073013|25635753" MGI:2140844 RGD:1309268 615732 HGNC:16385 "ENST00000438747.7|NM_148956.4" +HGNC:31802 NSUN4 NOP2/Sun RNA methyltransferase 4 protein-coding gene gene with protein product Approved 1p33 01p33 "MGC22960|SHTAP" sperm head and tail associated protein "NOL1/NOP2/Sun domain family, member 4|NOP2/Sun RNA methyltransferase family member 4" NOP2/Sun RNA methyltransferase family 664 2004-08-25 2019-02-26 2023-01-20 387338 ENSG00000117481 OTTHUMG00000007808 uc001cpr.3 AK021577 NM_199044 "CCDS57996|CCDS534" Q96CB9 24516400 MGI:1919431 RGD:1559652 615394 HGNC:31802 "ENST00000474844.6|NM_199044.4" +HGNC:16385 NSUN5 NOP2/Sun RNA methyltransferase 5 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "NOL1R|p120(NOL1)|FLJ10267|NSUN5A|Ynl022cL" NOP2/Sun domain family, member 5A "WBSCR20|WBSCR20A" "Williams Beuren syndrome chromosome region 20A|NOL1/NOP2/Sun domain family, member 5|NOP2/Sun domain family, member 5" NOP2/Sun RNA methyltransferase family 664 2001-08-24 2005-01-14 2019-02-26 2023-01-20 55695 ENSG00000130305 OTTHUMG00000129869 uc011kev.4 AF420249 NM_148956 "CCDS55119|CCDS5547|CCDS5546|CCDS55118" Q96P11 "11978965|12073013|25635753" MGI:2140844 RGD:1309268 615732 HGNC:16385 "ENST00000438747.7|NM_148956.4" HGNC:19146 NSUN5P1 NSUN5 pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 WBSCR20B Williams Beuren syndrome chromosome region 20B NSUN5B "NOL1/NOP2/Sun domain family, member 5B|NOP2/Sun domain family, member 5 pseudogene 1" 2006-02-02 2010-02-15 2019-02-26 2023-03-15 155400 ENSG00000223705 OTTHUMG00000156108 AF416610 NR_033322 Q3KNT7 12073013 MGI:2140844 HGNC:19146 HGNC:16609 NSUN5P2 NSUN5 pseudogene 2 pseudogene pseudogene Approved 7q11.23 07q11.23 "WBSCR20C|MGC15057|FLJ11626|DKFZp434K058|NOL1R2|WBSCR20B" Williams Beuren syndrome chromosome region 20C NSUN5C "NOL1/NOP2/Sun domain family, member 5C|NOP2/Sun domain family, member 5 pseudogene 2" 2006-02-02 2010-02-15 2019-02-26 2023-03-15 260294 ENSG00000106133 OTTHUMG00000129829 AF416611 NR_033323 Q63ZY6 "12073013|11978965" MGI:2140844 HGNC:16609 HGNC:23529 NSUN6 NOP2/Sun RNA methyltransferase 6 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 FLJ23743 "NOPD1|ARL5B-AS1" "NOL1/NOP2/Sun domain family, member 6|ARL5B antisense RNA 1|NOP2/Sun domain family, member 6" NOP2/Sun RNA methyltransferase family 664 2003-11-21 2004-08-26 2019-02-26 2023-01-20 221078 ENSG00000241058 OTTHUMG00000017767 uc010qcp.2 BC035778 NM_182543 CCDS7130 Q8TEA1 "26160102|27703015" MGI:1921705 RGD:1309535 617199 HGNC:23529 "ENST00000377304.7|NM_182543.5" -HGNC:25857 NSUN7 NOP2/Sun RNA methyltransferase family member 7 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ14001 "NOL1/NOP2/Sun domain family, member 7|NOP2/Sun domain family, member 7" NOP2/Sun RNA methyltransferase family 664 2006-05-22 2015-11-17 2023-01-20 79730 ENSG00000179299 OTTHUMG00000128597 uc003gvj.4 BC036568 NM_024677 "CCDS82917|CCDS3461" Q8NE18 17442852 MGI:1918168 RGD:1310137 617185 HGNC:25857 "ENST00000381782.7|NM_024677.6" +HGNC:25857 NSUN7 NOP2/Sun RNA methyltransferase family member 7 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ14001 "NOL1/NOP2/Sun domain family, member 7|NOP2/Sun domain family, member 7" NOP2/Sun RNA methyltransferase family 664 2006-05-22 2015-11-17 2023-01-20 79730 ENSG00000179299 OTTHUMG00000128597 uc003gvj.4 BC036568 NM_024677 "CCDS3461|CCDS82917" Q8NE18 17442852 MGI:1918168 RGD:1310137 617185 HGNC:25857 "ENST00000381782.7|NM_024677.6" HGNC:17144 NT5C 5', 3'-nucleotidase, cytosolic protein-coding gene gene with protein product Approved 17q25 17q25 "DNT1|DNT-1|PN-I|cdN|dNT-1" UMPH2 "5' nucleotidase, deoxy (pyrimidine), cytosolic type C|uridine 5-prime monophosphate hydrolase 2" 5'-nucleotidases 1042 2001-11-20 2002-05-23 2023-01-20 30833 ENSG00000125458 OTTHUMG00000179346 uc002jmx.4 AF154829 NM_001252377 CCDS11715 Q8TCD5 10899995 MGI:1354954 RGD:2321875 191720 objectId:1238 3.1.3.5 HGNC:17144 "ENST00000245552.7|NM_014595.3" HGNC:17819 NT5C1A 5'-nucleotidase, cytosolic IA protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "CN-I|CN-IA|CN1A|CN1|MGC119199|MGC119201" "cytosolic 5' nucleotidase, type 1A|AMP-specific 5'-NT|cytosolic 5'-nucleotidase IA" 5'-nucleotidases 1042 2002-04-18 2023-01-20 84618 ENSG00000116981 OTTHUMG00000009244 uc001cdq.1 AF331801 NM_032526 CCDS440 Q9BXI3 "11133996|11690631" MGI:2155700 RGD:1310908 610525 objectId:1234 3.1.3.5 HGNC:17819 "ENST00000235628.2|NM_032526.3" HGNC:17818 NT5C1B 5'-nucleotidase, cytosolic IB protein-coding gene gene with protein product Approved 2p24.2 02p24.2 "AIRP|CN-IB" 5'-nucleotidases 1042 2002-04-18 2023-01-20 93034 ENSG00000185013 OTTHUMG00000151765 uc061gxg.1 AF356185 NM_001002006 "CCDS33149|CCDS33150" Q96P26 11690631 MGI:1918131 RGD:1309705 610526 objectId:1235 3.1.3.5 HGNC:17818 "ENST00000304081.9|NM_033253.4" HGNC:38831 NT5C1B-RDH14 NT5C1B-RDH14 readthrough other readthrough Approved 2p24.2 02p24.2 2011-02-21 2023-03-15 100526794 ENSG00000250741 OTTHUMG00000161546 uc061gxf.1 NM_001199103.1 MGI:1918131 HGNC:38831 -HGNC:8022 NT5C2 5'-nucleotidase, cytosolic II protein-coding gene gene with protein product Approved 10q24.32-q24.33 10q24.32-q24.33 "PNT5|GMP|cN-II|SPG65" purine 5' nucleotidase "NT5B|SPG45" "5'-nucleotidase (purine), cytosolic type B|spastic paraplegia 45 (autosomal recessive)" 5'-nucleotidases 1042 2000-06-16 2002-04-19 2002-04-18 2023-01-20 22978 ENSG00000076685 OTTHUMG00000018981 uc001kwq.4 D38524 NM_012229 "CCDS7544|CCDS91340|CCDS91339" P49902 "7999131|24482476|28327087" MGI:2178563 RGD:2323387 NT5C2 600417 398201 objectId:1236 3.1.3.5 HGNC:8022 "ENST00000404739.8|NM_001351169.2" HGNC:8022 -HGNC:17820 NT5C3A 5'-nucleotidase, cytosolic IIIA protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "UMPH1|PSN1|PN-I|UMPH|P5'N-1|cN-III|p36|POMP|hUMP1" lupin NT5C3 5'-nucleotidase, cytosolic III 5'-nucleotidases 1042 2002-04-18 2013-03-06 2013-03-06 2023-01-20 51251 ENSG00000122643 OTTHUMG00000152983 uc003tdj.5 AF312735 NM_016489 "CCDS55101|CCDS34616|CCDS34617" Q9H0P0 "11042152|10942414" MGI:1927186 RGD:1312013 606224 123953 objectId:1237 3.1.3.5 HGNC:17820 "ENST00000610140.7|NM_001002010.5" HGNC:17820 +HGNC:8022 NT5C2 5'-nucleotidase, cytosolic II protein-coding gene gene with protein product Approved 10q24.32-q24.33 10q24.32-q24.33 "PNT5|GMP|cN-II|SPG65" purine 5' nucleotidase "NT5B|SPG45" "5'-nucleotidase (purine), cytosolic type B|spastic paraplegia 45 (autosomal recessive)" 5'-nucleotidases 1042 2000-06-16 2002-04-19 2002-04-18 2023-01-20 22978 ENSG00000076685 OTTHUMG00000018981 uc001kwq.4 D38524 NM_012229 "CCDS91340|CCDS7544|CCDS91339" P49902 "7999131|24482476|28327087" MGI:2178563 RGD:2323387 NT5C2 600417 398201 objectId:1236 3.1.3.5 HGNC:8022 "ENST00000404739.8|NM_001351169.2" HGNC:8022 +HGNC:17820 NT5C3A 5'-nucleotidase, cytosolic IIIA protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "UMPH1|PSN1|PN-I|UMPH|P5'N-1|cN-III|p36|POMP|hUMP1" lupin NT5C3 5'-nucleotidase, cytosolic III 5'-nucleotidases 1042 2002-04-18 2013-03-06 2013-03-06 2023-01-20 51251 ENSG00000122643 OTTHUMG00000152983 uc003tdj.5 AF312735 NM_016489 "CCDS34616|CCDS34617|CCDS55101" Q9H0P0 "11042152|10942414" MGI:1927186 RGD:1312013 606224 123953 objectId:1237 3.1.3.5 HGNC:17820 "ENST00000610140.7|NM_001002010.5" HGNC:17820 HGNC:18530 NT5C3AP1 NT5C3A pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 UMPH1P NT5C3P1 "5'-nucleotidase, cytosolic III pseudogene 1|5'-nucleotidase, cytosolic IIIA pseudogene 1" 2002-04-18 2013-03-06 2019-10-16 2019-10-16 90859 ENSG00000213492 OTTHUMG00000059451 NG_000948 11369620 PGOHUM00000245669 HGNC:18530 HGNC:54578 NT5C3AP2 NT5C3A pseudogene 2 pseudogene pseudogene Approved 3q13.2 03q13.2 2019-10-16 2019-10-16 100420394 ENSG00000244720 OTTHUMG00000159278 NG_025725 PGOHUM00000299534 HGNC:28300 NT5C3B 5'-nucleotidase, cytosolic IIIB protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "MGC20781|cN-IIIB" NT5C3L 5'-nucleotidase, cytosolic III-like 2005-11-15 2013-01-31 2013-01-31 2023-01-20 115024 ENSG00000141698 OTTHUMG00000133499 uc021txo.2 NM_052935 CCDS11410 Q969T7 "23223233|24603684" MGI:1915356 RGD:1359229 620041 "3.1.3.5|3.1.3.91" HGNC:28300 "ENST00000435506.7|NM_052935.5" @@ -23193,13 +23195,13 @@ HGNC:39789 NT5CP3 5',3'-nucleotidase, cytosolic pseudogene 3 pseudogene pseudoge HGNC:21556 NT5DC1 5'-nucleotidase domain containing 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "dJ486I3.1|MGC24302" NT5C2L1 5'-nucleotidase, cytosolic II-like 1 2003-06-24 2006-01-27 2006-01-27 2023-01-20 221294 ENSG00000178425 OTTHUMG00000015428 uc003pwj.4 BC015138 NM_152729 CCDS5104 Q5TFE4 MGI:2442446 RGD:1305214 HGNC:21556 "ENST00000319550.9|NM_152729.3" HGNC:55018 NT5DC1P1 NT5DC1 pseudogene 1 pseudogene pseudogene Approved Xq21.32 Xq21.32 2020-05-22 2020-05-22 100131340 ENSG00000237381 NG_022624 HGNC:55019 NT5DC1P2 NT5DC1 pseudogene 2 pseudogene pseudogene Approved Xq26.2 Xq26.2 2020-05-22 2020-05-22 402425 ENSG00000214961 NG_022705 -HGNC:25717 NT5DC2 5'-nucleotidase domain containing 2 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 FLJ12442 2006-01-27 2023-01-20 64943 ENSG00000168268 OTTHUMG00000158626 uc003deo.4 AF131781 NM_022908 "CCDS2858|CCDS46843" Q9H857 "8619474|9110174" MGI:1917271 RGD:1305524 HGNC:25717 "ENST00000422318.7|NM_001134231.2" +HGNC:25717 NT5DC2 5'-nucleotidase domain containing 2 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 FLJ12442 2006-01-27 2023-01-20 64943 ENSG00000168268 OTTHUMG00000158626 uc003deo.4 AF131781 NM_022908 "CCDS46843|CCDS2858" Q9H857 "8619474|9110174" MGI:1917271 RGD:1305524 HGNC:25717 "ENST00000422318.7|NM_001134231.2" HGNC:30826 NT5DC3 5'-nucleotidase domain containing 3 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "TU12B1-TY|FLJ11266" 2006-02-01 2023-03-15 51559 ENSG00000111696 OTTHUMG00000157017 uc010swe.2 AB032786 NM_016575 CCDS41824 Q86UY8 MGI:3513266 RGD:1593358 611076 HGNC:30826 "ENST00000392876.8|NM_001031701.3" HGNC:27678 NT5DC4 5'-nucleotidase domain containing 4 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 2006-01-27 2023-01-20 284958 ENSG00000144130 OTTHUMG00000153308 uc002tid.4 BC041437 NM_001350494 "CCDS92846|CCDS86877" Q86YG4 HGNC:27678 "ENST00000688554.1|NM_001393655.1" -HGNC:8021 NT5E 5'-nucleotidase ecto protein-coding gene gene with protein product Approved 6q14.3 06q14.3 "CD73|eN|eNT|CALJA" NT5 "5' nucleotidase (CD73)|5'-nucleotidase, ecto (CD73)" "CD molecules|5'-nucleotidases" "471|1042" 1989-02-23 2002-04-19 2016-01-14 2023-01-20 4907 ENSG00000135318 OTTHUMG00000015139 uc003pko.5 X55740 NM_001204813 "CCDS56439|CCDS5002" P21589 MGI:99782 RGD:61956 129190 289604 objectId:1232 CD73 3.1.3.5 HGNC:8021 "ENST00000257770.8|NM_002526.4" HGNC:8021 +HGNC:8021 NT5E 5'-nucleotidase ecto protein-coding gene gene with protein product Approved 6q14.3 06q14.3 "CD73|eN|eNT|CALJA" NT5 "5' nucleotidase (CD73)|5'-nucleotidase, ecto (CD73)" "CD molecules|5'-nucleotidases" "471|1042" 1989-02-23 2002-04-19 2016-01-14 2023-01-20 4907 ENSG00000135318 OTTHUMG00000015139 uc003pko.5 X55740 NM_001204813 "CCDS5002|CCDS56439" P21589 MGI:99782 RGD:61956 129190 289604 objectId:1232 CD73 3.1.3.5 HGNC:8021 "ENST00000257770.8|NM_002526.4" HGNC:8021 HGNC:55194 NT5ELP 5' nucleotidase, ecto-like, pseudogene pseudogene pseudogene Approved 5q12.3 05q12.3 2020-08-13 2020-08-13 118568826 ENSG00000236068 MGI:1914013 RGD:1589594 HGNC:15769 NT5M 5',3'-nucleotidase, mitochondrial protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "dNT-2|dNT2|mdN" 5' nucleotidase, mitochondrial 5'-nucleotidases 1042 2001-06-21 2002-05-23 2023-01-20 56953 ENSG00000205309 OTTHUMG00000059277 uc002grf.4 AF210652 NM_020201 CCDS32581 Q9NPB1 10899995 MGI:1917127 RGD:1309622 605292 objectId:1239 3.1.3.5 HGNC:15769 "ENST00000389022.9|NM_020201.4" -HGNC:29909 NTAN1 N-terminal asparagine amidase protein-coding gene gene with protein product Approved 16p13.11 16p13.11 2004-08-19 2023-01-20 123803 ENSG00000157045 OTTHUMG00000129849 uc002ddd.5 AF092440 NM_173474 "CCDS10558|CCDS73832" Q96AB6 8910481 MGI:108471 RGD:1305160 615367 3.5.1.121 HGNC:29909 "ENST00000287706.8|NM_173474.4" +HGNC:29909 NTAN1 N-terminal asparagine amidase protein-coding gene gene with protein product Approved 16p13.11 16p13.11 2004-08-19 2023-01-20 123803 ENSG00000157045 OTTHUMG00000129849 uc002ddd.5 AF092440 NM_173474 "CCDS73832|CCDS10558" Q96AB6 8910481 MGI:108471 RGD:1305160 615367 3.5.1.121 HGNC:29909 "ENST00000287706.8|NM_173474.4" HGNC:45261 NTAN1P1 N-terminal asparagine amidase pseudogene 1 pseudogene pseudogene Approved 10q25.3 10q25.3 2013-03-12 2016-08-16 100420389 ENSG00000270965 OTTHUMG00000184683 NG_025462 PGOHUM00000289997 HGNC:45261 HGNC:45262 NTAN1P2 N-terminal asparagine amidase pseudogene 2 pseudogene pseudogene Approved 8q21.3 08q21.3 2013-03-12 2013-03-12 100420307 ENSG00000250569 OTTHUMG00000160478 NG_026048 PGOHUM00000249419 HGNC:45262 HGNC:45263 NTAN1P3 N-terminal asparagine amidase pseudogene 3 pseudogene pseudogene Approved 12q15 12q15 2013-03-12 2013-03-12 100420356 ENSG00000256355 OTTHUMG00000169067 NG_024031 PGOHUM00000262198 HGNC:45263 @@ -23210,31 +23212,31 @@ HGNC:8025 NTF6A neurotrophin 6 alpha (pseudogene) pseudogene pseudogene Approved HGNC:8026 NTF6B neurotrophin 6 beta (pseudogene) pseudogene pseudogene Approved 19q13.33 19q13.33 Neurotrophins 1585 1992-12-08 2008-01-31 2016-11-15 4911 ENSG00000267685 OTTHUMG00000180623 S41540 NG_029363 1496419 PGOHUM00000295059 HGNC:8026 HGNC:8027 NTF6G neurotrophin 6 gamma (pseudogene) pseudogene pseudogene Approved 19q13.33 19q13.33 neurotrophin 6, gamma pseudogene Neurotrophins 1585 1992-12-08 2008-01-31 2016-07-26 4912 ENSG00000267099 OTTHUMG00000180608 S41541 NG_029364 1496419 PGOHUM00000295400 HGNC:8027 HGNC:8028 NTHL1 nth like DNA glycosylase 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "NTH1|OCTS3" "nth (E.coli endonuclease III)-like 1|nth endonuclease III-like 1 (E. coli)" DNA glycosylases 1024 1998-05-27 2016-07-15 2023-01-20 4913 ENSG00000065057 OTTHUMG00000128744 uc002col.1 U81285 NM_002528 CCDS10457 P78549 "9045706|8990169" MGI:1313275 RGD:1309289 LRG_1366|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1366.xml 602656 458253 "3.2.2.-|4.2.99.18" HGNC:8028 "ENST00000651570.2|NM_002528.7" HGNC:8028 -HGNC:17941 NTM neurotrimin protein-coding gene gene with protein product Approved 11q25 11q25 "HNT|NTRI|IGLON2|CEPU-1" "neurotrimin|IgLON family member 2" "I-set domain containing|IgLON cell adhesion molecules" "593|1052" 2009-01-12 2023-01-20 50863 ENSG00000182667 OTTHUMG00000066364 uc001qgp.4 AF126426 NM_016522 "CCDS8491|CCDS41733|CCDS91626|CCDS44778|CCDS44777" Q9P121 7891157 MGI:2446259 RGD:620958 607938 470798 HGNC:17941 "ENST00000683400.1|NM_001352005.2" +HGNC:17941 NTM neurotrimin protein-coding gene gene with protein product Approved 11q25 11q25 "HNT|NTRI|IGLON2|CEPU-1" "neurotrimin|IgLON family member 2" "I-set domain containing|IgLON cell adhesion molecules" "593|1052" 2009-01-12 2023-01-20 50863 ENSG00000182667 OTTHUMG00000066364 uc001qgp.4 AF126426 NM_016522 "CCDS44777|CCDS8491|CCDS91626|CCDS41733|CCDS44778" Q9P121 7891157 MGI:2446259 RGD:620958 607938 470798 HGNC:17941 "ENST00000683400.1|NM_001352005.2" HGNC:32293 NTM-AS1 NTM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q25 11q25 FLJ45436 C11orf39 chromosome 11 open reading frame 39 Antisense RNAs 1987 2005-09-22 2015-10-01 2015-10-01 2020-04-20 101929637 ENSG00000224795 OTTHUMG00000066439 AK127362 NR_126159 Q6ZSK4 NTM-AS1 HGNC:32293 HGNC:41437 NTM-IT NTM intronic transcript non-coding RNA RNA, long non-coding Approved 11q25 11q25 NTM-IT3 "NTM intronic transcript 3 (non-protein coding)|NTM intronic transcript (non-protein coding)" Intronic transcripts 1989 2011-05-31 2013-02-18 2015-02-25 2015-02-25 100874281 ENSG00000238262 OTTHUMG00000150047 uc058jfl.1 AA398869 NR_046820 NTM-IT HGNC:41437 HGNC:23373 NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "AD-003|HOMT1A|NRMT1|NRMT" "C9orf32|METTL11A" "chromosome 9 open reading frame 32|methyltransferase like 11A" 7BS protein methyltransferases 2058 2005-11-22 2012-06-12 2012-06-12 2023-01-20 28989 ENSG00000148335 OTTHUMG00000020785 uc033dis.2 AF110776 NM_014064 "CCDS75918|CCDS35160|CCDS69682" Q9BV86 20481588 MGI:1913867 RGD:1306582 613560 2.1.1.244 HGNC:23373 "ENST00000372483.9|NM_014064.4" HGNC:31932 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 HOMT1B "C1orf184|METTL11B" "chromosome 1 open reading frame 184|methyltransferase like 11B" "MicroRNA protein coding host genes|7BS protein methyltransferases" "1691|2058" 2005-08-08 2021-05-17 2021-05-17 2023-01-20 149281 ENSG00000203740 OTTHUMG00000035959 uc009wvv.2 "AL445203|CAH72139" NM_001136107 CCDS44275 Q5VVY1 24090352 MGI:2685053 RGD:1564106 HGNC:31932 "ENST00000439373.3|NM_001136107.2" HGNC:8029 NTN1 netrin 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "NTN1L|NET1" Netrin-1 Netrins 661 1999-04-15 2023-05-02 9423 ENSG00000065320 OTTHUMG00000130257 uc002glw.4 U75586 NM_004822 CCDS11148 O95631 "9950216|28945198" MGI:105088 RGD:619809 601614 470800 HGNC:8029 "ENST00000173229.7|NM_004822.3" HGNC:8029 HGNC:8030 NTN3 netrin 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Netrin-3 NTN2L "netrin 2 (chicken)-like|netrin 2-like (chicken)" Netrins 661 1997-02-05 2008-10-29 2008-10-29 2023-01-20 4917 ENSG00000162068 OTTHUMG00000128867 uc002cqj.3 U86759 NM_006181 CCDS10469 O00634 "9143507|10366627" MGI:1341188 RGD:619811 602349 HGNC:8030 "ENST00000293973.2|NM_006181.3" -HGNC:13658 NTN4 netrin 4 protein-coding gene gene with protein product Approved 12q22 12q22 "beta-netrin|Netrin-4" Netrins 661 2000-09-27 2023-01-20 59277 ENSG00000074527 OTTHUMG00000170290 uc001tei.3 AF119916 NM_021229 "CCDS9054|CCDS86325|CCDS86324" Q9HB63 11038171 MGI:1888978 RGD:1565947 610401 HGNC:13658 "ENST00000343702.9|NM_021229.4" +HGNC:13658 NTN4 netrin 4 protein-coding gene gene with protein product Approved 12q22 12q22 "beta-netrin|Netrin-4" Netrins 661 2000-09-27 2023-01-20 59277 ENSG00000074527 OTTHUMG00000170290 uc001tei.3 AF119916 NM_021229 "CCDS86325|CCDS86324|CCDS9054" Q9HB63 11038171 MGI:1888978 RGD:1565947 610401 HGNC:13658 "ENST00000343702.9|NM_021229.4" HGNC:25208 NTN5 netrin 5 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Netrin-5 Netrins 661 2008-12-01 2023-01-20 126147 ENSG00000142233 OTTHUMG00000183321 uc002pkb.3 NM_145807 CCDS33068 Q8WTR8 26858598 MGI:2685330 RGD:1565197 HGNC:25208 "ENST00000270235.11|NM_145807.4" -HGNC:23319 NTNG1 netrin G1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "KIAA0976|Lmnt1|NetG1|NetrinG1" "netrin G1f|Netrin-G1|laminet-1" Netrins 661 2003-12-02 2023-05-02 22854 ENSG00000162631 OTTHUMG00000010965 uc001dvh.5 AB023193 NM_014917 "CCDS44180|CCDS44179|CCDS30785|CCDS81354" Q9Y2I2 10964959 MGI:1934028 RGD:1563465 608818 179408 HGNC:23319 "ENST00000370068.6|NM_001113226.3" HGNC:23319 +HGNC:23319 NTNG1 netrin G1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "KIAA0976|Lmnt1|NetG1|NetrinG1" "netrin G1f|Netrin-G1|laminet-1" Netrins 661 2003-12-02 2023-05-02 22854 ENSG00000162631 OTTHUMG00000010965 uc001dvh.5 AB023193 NM_014917 "CCDS44180|CCDS81354|CCDS30785|CCDS44179" Q9Y2I2 10964959 MGI:1934028 RGD:1563465 608818 179408 HGNC:23319 "ENST00000370068.6|NM_001113226.3" HGNC:23319 HGNC:14288 NTNG2 netrin G2 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "KIAA1857|Lmnt2|NetrinG2" "Netrin-G2|laminet-2" NTNG1 netrin G1 Netrins 661 2001-01-02 2003-12-03 2003-12-02 2023-05-02 84628 ENSG00000196358 OTTHUMG00000020835 uc004cbh.3 AB058760 NM_032536 CCDS6946 Q96CW9 15901489 MGI:2159341 RGD:1307089 618689 HGNC:14288 "ENST00000393229.4|NM_032536.4" HGNC:14288 HGNC:28204 NTPCR nucleoside-triphosphatase, cancer-related protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "MGC13186|HCR-NTPase|THEP1" human cancer-related NTPase C1orf57 chromosome 1 open reading frame 57 2005-05-10 2010-12-20 2010-12-20 2023-01-20 84284 ENSG00000135778 OTTHUMG00000037822 uc001hvj.2 BC005102 NM_032324 CCDS1597 Q9BSD7 "17291528|19519914" MGI:1913816 RGD:1306192 3.6.1.15 HGNC:28204 "ENST00000366628.10|NM_032324.3" HGNC:52478 NTRAS non-coding transcript regulating alternative splicing non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 RP11-354K1.1 LINC01693 long intergenic non-protein coding RNA 1693 Long non-coding RNAs with non-systematic symbols 1992 2016-11-08 2022-08-19 2022-08-19 2022-08-19 105748977 ENSG00000227764 OTTHUMG00000036999 NR_131925 35527520 HGNC:52478 -HGNC:8031 NTRK1 neurotrophic receptor tyrosine kinase 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "TRK|TRKA|MTC" "high affinity nerve growth factor receptor|tropomyosin receptor kinase A" neurotrophic tyrosine kinase, receptor, type 1 "Receptor tyrosine kinases|Immunoglobulin like domain containing" "321|594" 1991-07-18 2016-03-31 2023-05-02 4914 ENSG00000198400 OTTHUMG00000041304 uc001fqh.2 Y09028 NM_002529 "CCDS1161|CCDS30891" P04629 2869410 MGI:97383 RGD:620144 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_261|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_261.xml" NTRK1 191315 123961 objectId:1817 2.7.10.1 HGNC:8031 "ENST00000524377.7|NM_002529.4" HGNC:8031 -HGNC:8032 NTRK2 neurotrophic receptor tyrosine kinase 2 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 TRKB BDNF/NT-3 growth factors receptor neurotrophic tyrosine kinase, receptor, type 2 "Receptor tyrosine kinases|I-set domain containing" "321|593" 1991-07-18 2016-03-31 2023-01-20 4915 ENSG00000148053 OTTHUMG00000020120 uc064uau.1 AF410902 NM_001007097 "CCDS94428|CCDS94430|CCDS94429|CCDS35053|CCDS35051|CCDS6671|CCDS94427|CCDS35050|CCDS94431|CCDS35052" Q16620 7789988 MGI:97384 RGD:3213 NTRK2 600456 363263 objectId:1818 2.7.10.1 HGNC:8032 "ENST00000277120.8|NM_006180.6" HGNC:8032 -HGNC:8033 NTRK3 neurotrophic receptor tyrosine kinase 3 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 TRKC neurotrophic tyrosine kinase, receptor, type 3 "Receptor tyrosine kinases|I-set domain containing" "321|593" 1991-07-18 2016-03-31 2023-01-20 4916 ENSG00000140538 OTTHUMG00000148677 uc002bmf.3 U05012 NM_001007156 "CCDS10340|CCDS58399|CCDS32323|CCDS32322|CCDS81916" Q16288 7806211 MGI:97385 RGD:3214 NTRK3 191316 246681 objectId:1819 2.7.10.1 HGNC:8033 "ENST00000629765.3|NM_001012338.3" +HGNC:8031 NTRK1 neurotrophic receptor tyrosine kinase 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "TRK|TRKA|MTC" "high affinity nerve growth factor receptor|tropomyosin receptor kinase A" neurotrophic tyrosine kinase, receptor, type 1 "Receptor tyrosine kinases|Immunoglobulin like domain containing" "321|594" 1991-07-18 2016-03-31 2023-05-02 4914 ENSG00000198400 OTTHUMG00000041304 uc001fqh.2 Y09028 NM_002529 "CCDS30891|CCDS1161" P04629 2869410 MGI:97383 RGD:620144 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_261|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_261.xml" NTRK1 191315 123961 objectId:1817 2.7.10.1 HGNC:8031 "ENST00000524377.7|NM_002529.4" HGNC:8031 +HGNC:8032 NTRK2 neurotrophic receptor tyrosine kinase 2 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 TRKB BDNF/NT-3 growth factors receptor neurotrophic tyrosine kinase, receptor, type 2 "Receptor tyrosine kinases|I-set domain containing" "321|593" 1991-07-18 2016-03-31 2023-01-20 4915 ENSG00000148053 OTTHUMG00000020120 uc064uau.1 AF410902 NM_001007097 "CCDS6671|CCDS35052|CCDS35053|CCDS35051|CCDS35050|CCDS94431|CCDS94428|CCDS94427|CCDS94430|CCDS94429" Q16620 7789988 MGI:97384 RGD:3213 NTRK2 600456 363263 objectId:1818 2.7.10.1 HGNC:8032 "ENST00000277120.8|NM_006180.6" HGNC:8032 +HGNC:8033 NTRK3 neurotrophic receptor tyrosine kinase 3 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 TRKC neurotrophic tyrosine kinase, receptor, type 3 "Receptor tyrosine kinases|I-set domain containing" "321|593" 1991-07-18 2016-03-31 2023-01-20 4916 ENSG00000140538 OTTHUMG00000148677 uc002bmf.3 U05012 NM_001007156 "CCDS32322|CCDS58399|CCDS10340|CCDS32323|CCDS81916" Q16288 7806211 MGI:97385 RGD:3214 NTRK3 191316 246681 objectId:1819 2.7.10.1 HGNC:8033 "ENST00000629765.3|NM_001012338.3" HGNC:27532 NTRK3-AS1 NTRK3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.3 15q25.3 NTRK3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 283738 ENSG00000260305 OTTHUMG00000173016 uc021sub.1 AK097486 NR_038229 NTRK3-AS1 HGNC:27532 HGNC:8038 NTS neurotensin protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "neuromedin N|pro-neurotensin/neuromedin" Neuropeptides 1902 1989-06-02 2023-01-20 4922 ENSG00000133636 OTTHUMG00000169832 uc001tag.4 NM_006183 CCDS9029 P30990 MGI:1328351 RGD:621612 162650 ligandId:1577 HGNC:8038 "ENST00000256010.7|NM_006183.5" HGNC:8039 NTSR1 neurotensin receptor 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 NTR neurotensin receptor 1 (high affinity) Neurotensin receptors 244 1993-11-30 2016-08-25 2023-01-20 4923 ENSG00000101188 OTTHUMG00000032932 uc002ydf.3 NM_002531 CCDS13502 P30989 8075503 MGI:97386 RGD:1306076 162651 objectId:309 HGNC:8039 "ENST00000370501.4|NM_002531.3" HGNC:8040 NTSR2 neurotensin receptor 2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 NTR2 Neurotensin receptors 244 2000-01-20 2023-01-20 23620 ENSG00000169006 OTTHUMG00000119083 uc002rbq.5 Y10148 NM_012344 CCDS1681 O95665 "8647296|9851594" MGI:108018 RGD:70962 605538 objectId:310 HGNC:8040 "ENST00000306928.6|NM_012344.4" HGNC:14311 NUAK1 NUAK family kinase 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "ARK5|KIAA0537" AMP-activated protein kinase family member 5 NUAK family, SNF1-like kinase, 1 NUAK family kinases 2136 2005-06-08 2016-03-10 2023-01-20 9891 ENSG00000074590 OTTHUMG00000169763 uc001tlj.2 AB011109 NM_014840 CCDS31892 O60285 "12409306|13679856" MGI:1925226 RGD:1309956 608130 470802 objectId:2129 HGNC:14311 "ENST00000261402.7|NM_014840.3" HGNC:29558 NUAK2 NUAK family kinase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "SNARK|FLJ90349" SNF1/AMP activated protein kinase NUAK family, SNF1-like kinase, 2 NUAK family kinases 2136 2005-06-08 2016-03-10 2023-01-20 81788 ENSG00000163545 OTTHUMG00000037196 uc001hce.5 AK074830 NM_030952 CCDS1453 Q9H093 11230166 MGI:1921387 RGD:1359167 608131 objectId:2130 HGNC:29558 "ENST00000367157.6|NM_030952.3" HGNC:29558 -HGNC:17623 NUB1 negative regulator of ubiquitin like proteins 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "BS4|NYREN18|NUB1L" NEDD8 ultimate buster-1 2006-07-27 2016-06-07 2023-01-20 51667 ENSG00000013374 OTTHUMG00000157365 uc003wjw.6 AF300717 NM_016118 "CCDS87565|CCDS47751" Q9Y5A7 "10508479|11259415" MGI:1889001 RGD:1359489 607981 470804 HGNC:17623 "ENST00000568733.6|NM_001243351.2" -HGNC:8041 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "NBP35|CIAO5" NBP1 "nucleotide binding protein 1 (E.coli MinD like)|nucleotide binding protein 1 (MinD homolog, E. coli)|nucleotide binding protein 1" Cytosolic iron-sulfur assembly components 1028 1998-07-03 2021-12-13 2023-01-20 4682 ENSG00000103274 OTTHUMG00000129751 uc002daa.3 U01833 NM_002484 "CCDS10543|CCDS61839" P53384 7926816 MGI:1347073 RGD:1310514 600280 HGNC:8041 "ENST00000283027.10|NM_002484.4" -HGNC:8042 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CFD1|CIAO6" "nucleotide binding protein 2 (E.coli MinD like)|nucleotide binding protein 2 (MinD homolog, E. coli)|nucleotide binding protein 2" Cytosolic iron-sulfur assembly components 1028 1999-05-25 2021-12-13 2023-01-20 10101 ENSG00000095906 OTTHUMG00000128639 uc002cmw.6 AF118394 NM_012225 "CCDS10445|CCDS66898" Q9Y5Y2 10486206 MGI:1347072 RGD:1305113 610779 HGNC:8042 "ENST00000262302.14|NM_012225.4" +HGNC:17623 NUB1 negative regulator of ubiquitin like proteins 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "BS4|NYREN18|NUB1L" NEDD8 ultimate buster-1 2006-07-27 2016-06-07 2023-01-20 51667 ENSG00000013374 OTTHUMG00000157365 uc003wjw.6 AF300717 NM_016118 "CCDS47751|CCDS87565" Q9Y5A7 "10508479|11259415" MGI:1889001 RGD:1359489 607981 470804 HGNC:17623 "ENST00000568733.6|NM_001243351.2" +HGNC:8041 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "NBP35|CIAO5" NBP1 "nucleotide binding protein 1 (E.coli MinD like)|nucleotide binding protein 1 (MinD homolog, E. coli)|nucleotide binding protein 1" Cytosolic iron-sulfur assembly components 1028 1998-07-03 2021-12-13 2023-01-20 4682 ENSG00000103274 OTTHUMG00000129751 uc002daa.3 U01833 NM_002484 "CCDS61839|CCDS10543" P53384 7926816 MGI:1347073 RGD:1310514 600280 HGNC:8041 "ENST00000283027.10|NM_002484.4" +HGNC:8042 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CFD1|CIAO6" "nucleotide binding protein 2 (E.coli MinD like)|nucleotide binding protein 2 (MinD homolog, E. coli)|nucleotide binding protein 2" Cytosolic iron-sulfur assembly components 1028 1999-05-25 2021-12-13 2023-01-20 10101 ENSG00000095906 OTTHUMG00000128639 uc002cmw.6 AF118394 NM_012225 "CCDS66898|CCDS10445" Q9Y5Y2 10486206 MGI:1347072 RGD:1305113 610779 HGNC:8042 "ENST00000262302.14|NM_012225.4" HGNC:20278 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial protein-coding gene gene with protein product Approved 14q12 14q12 "FLJ12660|IND1|huInd1" iron-sulfur protein required for NADH dehydrogenase C14orf127 "chromosome 14 open reading frame 127|nucleotide binding protein-like|nucleotide binding protein like" "Mitochondrial respiratory chain complex assembly factors|Mitochondrial iron-sulfur assembly components" "645|1853" 2003-01-17 2005-01-07 2021-12-13 2023-01-20 80224 ENSG00000151413 OTTHUMG00000170521 uc001wrk.5 AK022722 NM_025152 CCDS41940 Q8TB37 "19752196|20818383" MGI:1924076 RGD:1307232 613621 244371 HGNC:20278 "ENST00000281081.12|NM_025152.3" HGNC:20278 HGNC:55483 NUBPL-DT NUBPL divergent transcript non-coding RNA RNA, long non-coding Approved 14q12 14q12 Divergent transcripts 1990 2021-03-11 2021-03-11 105370437 ENSG00000257155 XR_943720 HGNC:8043 NUCB1 nucleobindin 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "NUC|Calnuc" EF-hand domain containing 863 1996-09-13 2023-01-20 4924 ENSG00000104805 OTTHUMG00000152514 uc002plb.5 BC002356 NM_006184 CCDS12740 Q02818 8661046 MGI:97388 RGD:620030 601323 objectId:2871 HGNC:8043 "ENST00000405315.9|NM_006184.6" @@ -23243,39 +23245,39 @@ HGNC:8044 NUCB2 nucleobindin 2 protein-coding gene gene with protein product App HGNC:29923 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 NUCKS 2005-07-11 2016-06-08 2023-01-20 64710 ENSG00000069275 OTTHUMG00000035996 uc001hdb.4 NM_022731 CCDS30987 Q9H1E3 11298763 MGI:1934811 RGD:620993 611912 HGNC:29923 "ENST00000367142.5|NM_022731.5" HGNC:51943 NUCKS1P1 nuclear casein kinase and cyclin dependent kinase substrate 1 pseudogene 1 pseudogene pseudogene Approved 1q42.13 01q42.13 2015-10-07 2016-06-08 2016-06-08 100130466 ENSG00000232864 OTTHUMG00000037613 PGOHUM00000296078 HGNC:51943 HGNC:8045 NUDC nuclear distribution C, dynein complex regulator protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "nuclear distribution gene C homolog (A. nidulans)|nuclear distribution C homolog (A. nidulans)|nudC nuclear distribution protein" NudC family 1285 1999-01-22 2016-06-13 2023-01-20 10726 ENSG00000090273 OTTHUMG00000004226 uc001bng.3 NM_006600 CCDS292 Q9Y266 MGI:106014 RGD:3215 610325 HGNC:8045 "ENST00000321265.10|NM_006600.4" -HGNC:24306 NUDCD1 NudC domain containing 1 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "CML66|FLJ14991" NudC family 1285 2005-02-07 2023-01-20 84955 ENSG00000120526 OTTHUMG00000164931 uc003ynb.5 AF283302 NM_032869 "CCDS6312|CCDS47910" Q96RS6 11416219 MGI:1914679 RGD:1310624 606109 HGNC:24306 "ENST00000239690.9|NM_032869.4" +HGNC:24306 NUDCD1 NudC domain containing 1 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "CML66|FLJ14991" NudC family 1285 2005-02-07 2023-01-20 84955 ENSG00000120526 OTTHUMG00000164931 uc003ynb.5 AF283302 NM_032869 "CCDS47910|CCDS6312" Q96RS6 11416219 MGI:1914679 RGD:1310624 606109 HGNC:24306 "ENST00000239690.9|NM_032869.4" HGNC:30535 NUDCD2 NudC domain containing 2 protein-coding gene gene with protein product Approved 5q34 05q34 "DKFZp686E10109|NudCL2" NudC family 1285 2005-02-07 2023-01-20 134492 ENSG00000170584 OTTHUMG00000130378 uc003lze.4 BX538290 NM_145266 CCDS4361 Q8WVJ2 20133715 MGI:1277103 RGD:1307203 620136 HGNC:30535 "ENST00000302764.9|NM_145266.6" HGNC:22208 NUDCD3 NudC domain containing 3 protein-coding gene gene with protein product Approved 7p13 07p13 "KIAA1068|NudCL" NudC family 1285 2005-02-07 2023-01-20 23386 ENSG00000015676 OTTHUMG00000129174 uc003tkz.4 BC003691 NM_015332 CCDS5490 Q8IVD9 16754861 MGI:2144158 RGD:1642416 610296 HGNC:22208 "ENST00000355451.8|NM_015332.4" HGNC:8046 NUDCP1 nuclear distribution C pseudogene 1 pseudogene pseudogene Approved 2q23.3 02q23.3 nuclear distribution gene C (A.nidulans) homolog, pseudogene 1 1999-01-22 2016-06-13 2020-01-08 10790 ENSG00000213197 AF125466 NG_001230 10453739 HGNC:8046 HGNC:8047 NUDCP2 nuclear distribution C pseudogene 2 pseudogene pseudogene Approved 2q31 02q31 nuclear distribution gene C (A.nidulans) homolog, pseudogene 2 1999-01-22 2016-06-13 2020-01-08 10789 ENSG00000238082 AF125467 NG_001229 10453739 HGNC:8047 -HGNC:8048 NUDT1 nudix hydrolase 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "mutT human homolog 1|nudix motif 1|8-oxo-7,8-dihydrodeoxyguanosine triphosphatase|8-oxo-dGTPase|7,8-dihydro-8-oxoguanine triphosphatase|8-oxo-7,8-dihydroguanosine triphosphatase|nucleoside diphosphate-linked moiety X-type motif 1" MTH1 nudix (nucleoside diphosphate linked moiety X)-type motif 1 Nudix hydrolase family 667 1994-09-29 2015-11-13 2023-01-20 4521 ENSG00000106268 OTTHUMG00000023072 uc003slr.1 D16581 NM_002452 "CCDS5330|CCDS5329" P36639 "7713494|8226881" MGI:109280 RGD:621080 600312 HGNC:8048 "ENST00000356714.6|NM_002452.4" +HGNC:8048 NUDT1 nudix hydrolase 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "mutT human homolog 1|nudix motif 1|8-oxo-7,8-dihydrodeoxyguanosine triphosphatase|8-oxo-dGTPase|7,8-dihydro-8-oxoguanine triphosphatase|8-oxo-7,8-dihydroguanosine triphosphatase|nucleoside diphosphate-linked moiety X-type motif 1" MTH1 nudix (nucleoside diphosphate linked moiety X)-type motif 1 Nudix hydrolase family 667 1994-09-29 2015-11-13 2023-01-20 4521 ENSG00000106268 OTTHUMG00000023072 uc003slr.1 D16581 NM_002452 "CCDS5329|CCDS5330" P36639 "7713494|8226881" MGI:109280 RGD:621080 600312 HGNC:8048 "ENST00000356714.6|NM_002452.4" HGNC:8049 NUDT2 nudix hydrolase 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "Ap4A hydrolase 1|Ap4Aase|bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)|diadenosine tetraphosphatase|diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase" APAH1 nudix (nucleoside diphosphate linked moiety X)-type motif 2 Nudix hydrolase family 667 1997-04-25 2015-11-13 2023-01-20 318 ENSG00000164978 OTTHUMG00000019817 uc003zub.3 U30313 NM_001161 CCDS6552 P50583 "7487923|9479504" MGI:1913651 RGD:1303023 602852 HGNC:8049 "ENST00000379158.7|NM_001161.5" HGNC:8050 NUDT3 nudix hydrolase 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 DIPP nudix (nucleoside diphosphate linked moiety X)-type motif 3 Nudix hydrolase family 667 1999-09-03 2015-11-13 2023-01-20 11165 ENSG00000272325 OTTHUMG00000014545 uc003ojl.4 AF062530 NM_006703 CCDS4791 O95989 9822604 MGI:1928484 RGD:1310183 609228 HGNC:8050 "ENST00000607016.2|NM_006703.4" -HGNC:8051 NUDT4 nudix hydrolase 4 protein-coding gene gene with protein product Approved 12q22 12q22 "DIPP2|HDCMB47P|KIAA0487|DIPP2alpha|DIPP2beta" diphosphoinositol polyphosphate phosphohydrolase type 2 nudix (nucleoside diphosphate linked moiety X)-type motif 4 Nudix hydrolase family 667 1999-09-03 2015-11-13 2023-01-20 11163 ENSG00000173598 OTTHUMG00000170155 uc010sup.3 AF067803 NM_019094 "CCDS9044|CCDS73504|CCDS76584|CCDS44952" Q9NZJ9 "10777568|11376937" MGI:1918457 RGD:621355 609229 HGNC:8051 "ENST00000415493.7|NM_019094.6" +HGNC:8051 NUDT4 nudix hydrolase 4 protein-coding gene gene with protein product Approved 12q22 12q22 "DIPP2|HDCMB47P|KIAA0487|DIPP2alpha|DIPP2beta" diphosphoinositol polyphosphate phosphohydrolase type 2 nudix (nucleoside diphosphate linked moiety X)-type motif 4 Nudix hydrolase family 667 1999-09-03 2015-11-13 2023-01-20 11163 ENSG00000173598 OTTHUMG00000170155 uc010sup.3 AF067803 NM_019094 "CCDS76584|CCDS73504|CCDS44952|CCDS9044" Q9NZJ9 "10777568|11376937" MGI:1918457 RGD:621355 609229 HGNC:8051 "ENST00000415493.7|NM_019094.6" HGNC:18012 NUDT4B nudix hydrolase 4B protein-coding gene gene with protein product Approved 1q21.2 01q21.2 NUDT4P1 "nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1|nudix hydrolase 4 pseudogene 1" 2002-02-13 2017-10-26 2017-10-26 2023-01-20 440672 ENSG00000177144 OTTHUMG00000188673 AF311215 NM_001355407 CCDS86013 A0A024RBG1 11376937 MGI:1918457 PGOHUM00000244201 HGNC:18012 "ENST00000322209.5|NM_001355407.2" HGNC:18013 NUDT4P2 nudix hydrolase 4 pseudogene 2 pseudogene pseudogene Approved 1q21.1 01q21.1 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 2 2002-02-13 2015-11-13 2015-11-13 170688 ENSG00000271121 OTTHUMG00000188666 AF311216 NR_104005 11376937 HGNC:18013 HGNC:8052 NUDT5 nudix hydrolase 5 protein-coding gene gene with protein product Approved 10p14 10p14 "hYSAH1|YSA1H" nudix (nucleoside diphosphate linked moiety X)-type motif 5 Nudix hydrolase family 667 1999-09-03 2015-11-13 2023-01-20 11164 ENSG00000165609 OTTHUMG00000017682 uc001ilj.4 AF155832 NM_001321647 CCDS7089 Q9UKK9 10373642 MGI:1858232 RGD:1359284 609230 HGNC:8052 "ENST00000491614.6|NM_014142.4" -HGNC:8053 NUDT6 nudix hydrolase 6 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "gfg-1|gfg|FGF2AS|FGF-AS" nudix (nucleoside diphosphate linked moiety X)-type motif 6 Nudix hydrolase family 667 1999-09-03 2015-11-13 2023-01-20 11162 ENSG00000170917 OTTHUMG00000039507 uc003iew.3 AF019632 NM_007083 "CCDS43268|CCDS3729" P53370 "7984147|10022609" MGI:2387618 RGD:621356 606261 HGNC:8053 "ENST00000304430.10|NM_007083.5" -HGNC:8054 NUDT7 nudix hydrolase 7 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 nudix (nucleoside diphosphate linked moiety X)-type motif 7 Nudix hydrolase family 667 2000-03-29 2015-11-13 2023-01-20 283927 ENSG00000140876 OTTHUMG00000176808 uc010chd.4 AA227330 NM_001105663 "CCDS42195|CCDS58480|CCDS58479|CCDS73916" P0C024 11415433 MGI:1914778 RGD:1306719 609231 objectId:3085 HGNC:8054 "ENST00000268533.9|NM_001105663.3" -HGNC:8055 NUDT8 nudix hydrolase 8 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ41567 nudix (nucleoside diphosphate linked moiety X)-type motif 8 Nudix hydrolase family 667 2000-03-29 2015-11-13 2023-01-20 254552 ENSG00000167799 OTTHUMG00000167292 uc001omn.4 AI743601 NM_181843 "CCDS58151|CCDS8174" Q8WV74 11415433 MGI:1913637 RGD:1309040 HGNC:8055 "ENST00000376693.3|NM_001243750.2" -HGNC:8056 NUDT9 nudix hydrolase 9 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 MGC3037 nudix (nucleoside diphosphate linked moiety X)-type motif 9 Nudix hydrolase family 667 2000-05-02 2015-11-13 2023-01-20 53343 ENSG00000170502 OTTHUMG00000130591 uc003hqq.4 AY026252 NM_001248011 "CCDS3620|CCDS3621" Q9BW91 "11385575|12427752" MGI:1921417 RGD:1359522 606022 HGNC:8056 "ENST00000302174.9|NM_024047.5" +HGNC:8053 NUDT6 nudix hydrolase 6 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "gfg-1|gfg|FGF2AS|FGF-AS" nudix (nucleoside diphosphate linked moiety X)-type motif 6 Nudix hydrolase family 667 1999-09-03 2015-11-13 2023-01-20 11162 ENSG00000170917 OTTHUMG00000039507 uc003iew.3 AF019632 NM_007083 "CCDS3729|CCDS43268" P53370 "7984147|10022609" MGI:2387618 RGD:621356 606261 HGNC:8053 "ENST00000304430.10|NM_007083.5" +HGNC:8054 NUDT7 nudix hydrolase 7 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 nudix (nucleoside diphosphate linked moiety X)-type motif 7 Nudix hydrolase family 667 2000-03-29 2015-11-13 2023-01-20 283927 ENSG00000140876 OTTHUMG00000176808 uc010chd.4 AA227330 NM_001105663 "CCDS58479|CCDS73916|CCDS42195|CCDS58480" P0C024 11415433 MGI:1914778 RGD:1306719 609231 objectId:3085 HGNC:8054 "ENST00000268533.9|NM_001105663.3" +HGNC:8055 NUDT8 nudix hydrolase 8 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ41567 nudix (nucleoside diphosphate linked moiety X)-type motif 8 Nudix hydrolase family 667 2000-03-29 2015-11-13 2023-01-20 254552 ENSG00000167799 OTTHUMG00000167292 uc001omn.4 AI743601 NM_181843 "CCDS8174|CCDS58151" Q8WV74 11415433 MGI:1913637 RGD:1309040 HGNC:8055 "ENST00000376693.3|NM_001243750.2" +HGNC:8056 NUDT9 nudix hydrolase 9 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 MGC3037 nudix (nucleoside diphosphate linked moiety X)-type motif 9 Nudix hydrolase family 667 2000-05-02 2015-11-13 2023-01-20 53343 ENSG00000170502 OTTHUMG00000130591 uc003hqq.4 AY026252 NM_001248011 "CCDS3621|CCDS3620" Q9BW91 "11385575|12427752" MGI:1921417 RGD:1359522 606022 HGNC:8056 "ENST00000302174.9|NM_024047.5" HGNC:28523 NUDT9P1 nudix hydrolase 9 pseudogene 1 pseudogene pseudogene Approved 10q23.32 10q23.32 "MGC34007|bA56M3.1" C10orf98 "chromosome 10 open reading frame 98|nudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1" 2004-04-16 2005-07-21 2015-11-13 2016-08-17 119369 ENSG00000234043 OTTHUMG00000018739 BC029544 NR_002779 12477932 PGOHUM00000289948 HGNC:28523 HGNC:17621 NUDT10 nudix hydrolase 10 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DIPP3a|hDIPP3alpha" nudix (nucleoside diphosphate linked moiety X)-type motif 10 Nudix hydrolase family 667 2002-02-13 2015-11-13 2023-01-20 170685 ENSG00000122824 OTTHUMG00000021530 uc004dph.3 AF469196 NM_153183 CCDS35278 Q8NFP7 12105228 "MGI:2147931|MGI:1930957" RGD:1564763 300527 HGNC:17621 "ENST00000356450.3|NM_001304963.2" HGNC:18011 NUDT11 nudix hydrolase 11 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DIPP3b|FLJ10628|hDIPP3beta" nudix (nucleoside diphosphate linked moiety X)-type motif 11 Nudix hydrolase family 667 2002-02-13 2015-11-13 2023-01-20 55190 ENSG00000196368 OTTHUMG00000021531 uc010njt.4 AK001490 NM_018159 CCDS43952 Q96G61 12105228 "MGI:2147931|MGI:1930957" RGD:1594183 300528 HGNC:18011 "ENST00000375992.4|NM_018159.4" HGNC:18826 NUDT12 nudix hydrolase 12 protein-coding gene gene with protein product Approved 5q21.2 05q21.2 DKFZP761I172 nucleoside diphosphate linked moiety X-type motif 12 nudix (nucleoside diphosphate linked moiety X)-type motif 12 "Ankyrin repeat domain containing|Nudix hydrolase family" "403|667" 2002-07-22 2015-11-13 2023-01-20 83594 ENSG00000112874 OTTHUMG00000128739 uc003koi.4 AL136592 NM_031438 "CCDS75284|CCDS4096" Q9BQG2 11230166 MGI:1915243 RGD:1310902 609232 HGNC:18826 "ENST00000230792.7|NM_031438.4" -HGNC:18827 NUDT13 nudix hydrolase 13 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 DKFZp586P2219 nudix (nucleoside diphosphate linked moiety X)-type motif 13 Nudix hydrolase family 667 2002-07-22 2015-11-13 2023-01-20 25961 ENSG00000166321 OTTHUMG00000018453 uc001jtj.5 AL050114 NM_015901 "CCDS31220|CCDS60553|CCDS73148|CCDS60552|CCDS60551" Q86X67 15164054 MGI:1914975 RGD:1592767 609233 HGNC:18827 "ENST00000357321.9|NM_015901.6" +HGNC:18827 NUDT13 nudix hydrolase 13 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 DKFZp586P2219 nudix (nucleoside diphosphate linked moiety X)-type motif 13 Nudix hydrolase family 667 2002-07-22 2015-11-13 2023-01-20 25961 ENSG00000166321 OTTHUMG00000018453 uc001jtj.5 AL050114 NM_015901 "CCDS31220|CCDS60551|CCDS60552|CCDS60553|CCDS73148" Q86X67 15164054 MGI:1914975 RGD:1592767 609233 HGNC:18827 "ENST00000357321.9|NM_015901.6" HGNC:20141 NUDT14 nudix hydrolase 14 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 UGPP uridine diphosphate glucose pyrophosphatase nudix (nucleoside diphosphate linked moiety X)-type motif 14 Nudix hydrolase family 667 2002-12-18 2015-11-13 2023-01-20 256281 ENSG00000183828 OTTHUMG00000170372 uc010tyn.4 AB087802 NM_177533 CCDS10000 O95848 12429023 MGI:1913424 RGD:1310583 609219 HGNC:20141 "ENST00000392568.7|NM_177533.5" HGNC:23063 NUDT15 nudix hydrolase 15 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "MTH2|FLJ10956" nudix (nucleoside diphosphate linked moiety X)-type motif 15 Nudix hydrolase family 667 2003-12-22 2015-11-13 2023-01-20 55270 ENSG00000136159 OTTHUMG00000016890 uc001vbw.2 NM_018283 CCDS9407 Q9NV35 "12767940|25108385" MGI:2443366 RGD:1308292 PharmVar Pharmacogene Variation Consortium|https://www.pharmvar.org/gene/NUDT15 615792 422883 HGNC:23063 "ENST00000258662.3|NM_018283.4" HGNC:17266 NUDT15P1 nudix hydrolase 15 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 1 2005-07-21 2015-11-13 2015-11-13 574532 NG_031937 HGNC:17266 HGNC:20784 NUDT15P2 nudix hydrolase 15 pseudogene 2 pseudogene pseudogene Approved 17q11.2 17q11.2 nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 2 2005-07-21 2015-11-13 2015-11-13 574533 NG_032793 HGNC:20784 -HGNC:26442 NUDT16 nudix hydrolase 16 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 FLJ31265 nudix (nucleoside diphosphate linked moiety X)-type motif 16 Nudix hydrolase family 667 2005-01-25 2015-11-13 2023-01-20 131870 ENSG00000198585 OTTHUMG00000159623 uc003eog.3 AK055827 NM_152395 "CCDS54640|CCDS3070|CCDS54641" Q96DE0 "18820299|21337011" MGI:1922936 RGD:1311387 617381 HGNC:26442 "ENST00000521288.2|NM_152395.3" +HGNC:26442 NUDT16 nudix hydrolase 16 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 FLJ31265 nudix (nucleoside diphosphate linked moiety X)-type motif 16 Nudix hydrolase family 667 2005-01-25 2015-11-13 2023-01-20 131870 ENSG00000198585 OTTHUMG00000159623 uc003eog.3 AK055827 NM_152395 "CCDS54641|CCDS54640|CCDS3070" Q96DE0 "18820299|21337011" MGI:1922936 RGD:1311387 617381 HGNC:26442 "ENST00000521288.2|NM_152395.3" HGNC:27947 NUDT16-DT NUDT16 divergent transcript non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 Divergent transcripts 1990 2021-03-24 2021-03-24 339874 ENSG00000250608 NR_038976 -HGNC:28154 NUDT16L1 nudix hydrolase 16 like 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SDOS|TIRR" syndesmos nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 Nudix hydrolase family 667 2005-01-25 2015-11-13 2023-01-20 84309 ENSG00000168101 OTTHUMG00000129471 uc002cxe.4 BC006223 NM_032349 "CCDS59257|CCDS10519|CCDS92097" Q9BRJ7 "11805099|18820299" MGI:1914161 RGD:1561451 617338 HGNC:28154 "ENST00000304301.11|NM_032349.4" +HGNC:28154 NUDT16L1 nudix hydrolase 16 like 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SDOS|TIRR" syndesmos nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 Nudix hydrolase family 667 2005-01-25 2015-11-13 2023-01-20 84309 ENSG00000168101 OTTHUMG00000129471 uc002cxe.4 BC006223 NM_032349 "CCDS10519|CCDS92097|CCDS59257" Q9BRJ7 "11805099|18820299" MGI:1914161 RGD:1561451 617338 HGNC:28154 "ENST00000304301.11|NM_032349.4" HGNC:27189 NUDT16L2P nudix hydrolase 16 like 2, pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 FLJ20525 "NUDT16P|NUDT16P1" "nudix (nucleoside diphosphate linked moiety X)-type motif 16 pseudogene|nudix hydrolase 16 pseudogene 1" 2006-04-05 2020-08-13 2020-08-13 2021-10-07 152195 ENSG00000246082 OTTHUMG00000159755 AK000532 NR_027766 12477932 MGI:1920782 RGD:1584138 PGOHUM00000250305 HGNC:27189 HGNC:26618 NUDT17 nudix hydrolase 17 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 FLJ34433 nucleoside diphosphate-linked moiety X motif 17 nudix (nucleoside diphosphate linked moiety X)-type motif 17 Nudix hydrolase family 667 2005-02-02 2015-11-13 2023-01-20 200035 ENSG00000186364 OTTHUMG00000013752 uc001eoe.4 BC046352 NM_001012758 CCDS72865 P0C025 23353937 MGI:1925623 RGD:1565469 HGNC:26618 "ENST00000334513.6|NM_001012758.3" HGNC:26194 NUDT18 nudix hydrolase 18 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "FLJ22494|MTH3" mutT human homolog 3 nudix (nucleoside diphosphate linked moiety X)-type motif 18 Nudix hydrolase family 667 2005-07-07 2015-11-13 2023-01-20 79873 ENSG00000275074 OTTHUMG00000163774 uc033beu.2 NM_024815 CCDS75706 Q6ZVK8 22556419 MGI:2385853 RGD:1311802 615791 HGNC:26194 "ENST00000611621.2|NM_024815.4" HGNC:32036 NUDT19 nudix hydrolase 19 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 RP2 nudix (nucleoside diphosphate linked moiety X)-type motif 19 Nudix hydrolase family 667 2005-07-07 2015-11-13 2023-01-20 390916 ENSG00000213965 OTTHUMG00000180228 uc010edf.3 NM_001105570 CCDS42543 A8MXV4 MGI:94203 RGD:1302935 HGNC:32036 "ENST00000397061.4|NM_001105570.2" -HGNC:55296 NUDT19-DT NUDT19 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Divergent transcripts 1990 2020-10-14 2020-10-14 118827810 ENSG00000267475 +HGNC:55296 NUDT19-DT NUDT19 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Divergent transcripts 1990 2020-10-14 2020-10-14 118827810 ENSG00000267475 NR_186320 HGNC:43585 NUDT19P1 NUDT19 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 "nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 1|nudix hydrolase 19 pseudogene 1" 2011-11-16 2020-06-04 2020-06-04 100126008 NG_006970 PGOHUM00000241515 HGNC:43585 HGNC:43586 NUDT19P2 NUDT19 pseudogene 2 pseudogene pseudogene Approved Xq22.1 Xq22.1 "nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 2|nudix hydrolase 19 pseudogene 2" 2011-11-16 2020-06-04 2020-06-04 100422458 ENSG00000224632 NG_026867 PGOHUM00000241928 HGNC:43586 HGNC:43587 NUDT19P3 NUDT19 pseudogene 3 pseudogene pseudogene Approved 6q21 06q21 "nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 3|nudix hydrolase 19 pseudogene 3" 2011-11-16 2020-06-04 2020-06-04 100422450 ENSG00000216723 OTTHUMG00000015410 NG_025857 PGOHUM00000243333 HGNC:43587 @@ -23291,7 +23293,7 @@ HGNC:8058 NUFIP1P1 NUFIP1 pseudogene 1 pseudogene pseudogene Approved 6q12 06q12 HGNC:17634 NUFIP2 nuclear FMR1 interacting protein 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA1321|MGC117262|PIG1|182-FIP|FIP-82|82-FIP|NUFP2" "nuclear fragile X mental retardation protein interacting protein 2|NUFIP2, FMR1 interacting protein 2" 2006-01-26 2018-08-15 2023-01-20 57532 ENSG00000108256 OTTHUMG00000179547 uc002hdy.5 AB037742 NM_020772 CCDS32600 Q7Z417 "12837692|16407062" MGI:1915814 RGD:1596719 609356 HGNC:17634 "ENST00000225388.9|NM_020772.3" HGNC:33550 NUGGC nuclear GTPase, germinal center associated protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "HMFN0672|SLIP-GC" speckled-like pattern in the germinal center C8orf80 chromosome 8 open reading frame 80 2007-07-26 2012-06-07 2012-06-07 2023-01-20 389643 ENSG00000189233 OTTHUMG00000155970 uc003xgm.4 AB075870 NM_001010906 CCDS47833 Q68CJ6 19734146 MGI:2685446 RGD:1562099 619088 HGNC:33550 "ENST00000413272.7|NM_001010906.2" HGNC:8059 NUMA1 nuclear mitotic apparatus protein 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 NUMA MicroRNA protein coding host genes 1691 1993-03-05 2023-01-20 4926 ENSG00000137497 OTTHUMG00000167697 uc001orl.3 Z11584 NM_001286561 "CCDS66156|CCDS31633" Q14980 "8406455|31727776" MGI:2443665 RGD:1308777 NUMA1 164009 391994 HGNC:8059 "ENST00000393695.8|NM_006185.4" -HGNC:8060 NUMB NUMB endocytic adaptor protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 C14orf41 "numb (Drosophila) homolog|chromosome 14 open reading frame 41|numb homolog (Drosophila)" 1999-03-12 2019-01-22 2023-01-20 8650 ENSG00000133961 OTTHUMG00000171436 uc001xny.2 L40393 NM_001005743 "CCDS32115|CCDS32116|CCDS9814|CCDS55927" P49757 11121447 MGI:107423 RGD:620107 603728 HGNC:8060 "ENST00000555238.6|NM_001005743.2" +HGNC:8060 NUMB NUMB endocytic adaptor protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 C14orf41 "numb (Drosophila) homolog|chromosome 14 open reading frame 41|numb homolog (Drosophila)" 1999-03-12 2019-01-22 2023-01-20 8650 ENSG00000133961 OTTHUMG00000171436 uc001xny.2 L40393 NM_001005743 "CCDS9814|CCDS32116|CCDS32115|CCDS55927" P49757 11121447 MGI:107423 RGD:620107 603728 HGNC:8060 "ENST00000555238.6|NM_001005743.2" HGNC:8061 NUMBL NUMB like endocytic adaptor protein protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "NUMB-R|CTG3a|CAG3A|TNRC23|NUMBR|NUMBLIKE" numb (Drosophila) homolog-like 1999-03-12 2019-01-22 2023-01-20 9253 ENSG00000105245 OTTHUMG00000182627 uc002oon.5 AF015401 NM_004756 "CCDS77298|CCDS12561" Q9Y6R0 "9225980|9303539" MGI:894702 RGD:1307579 604018 HGNC:8061 "ENST00000252891.8|NM_004756.5" HGNC:29797 NUP35 nucleoporin 35 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 MP44 mitotic phosphoprotein 44 nucleoporin 35kDa Nucleoporins 1051 2004-06-28 2016-06-01 2023-01-20 129401 ENSG00000163002 OTTHUMG00000132621 uc002upf.5 AF514993 NM_138285 "CCDS74614|CCDS2290" Q8NFH5 MGI:1916732 RGD:1303069 608140 HGNC:29797 "ENST00000295119.9|NM_138285.5" HGNC:52370 NUP35P1 nucleoporin 35 pseudogene 1 pseudogene pseudogene Approved 10p12.2 10p12.2 2016-08-16 2016-08-16 100419066 ENSG00000223928 OTTHUMG00000017820 NG_025477 PGOHUM00000290071 HGNC:52370 @@ -23305,33 +23307,33 @@ HGNC:20025 NUP50P1 nucleoporin 50 pseudogene 1 pseudogene pseudogene Approved 14 HGNC:29928 NUP50P2 nucleoporin 50 pseudogene 2 pseudogene pseudogene Approved 6p22 06p22 2006-09-21 2006-09-21 266785 NG_002388 HGNC:29928 HGNC:29927 NUP50P3 nucleoporin 50 pseudogene 3 pseudogene pseudogene Approved 5p14 05p14 2008-03-07 2008-03-07 266786 NG_002389 HGNC:29927 HGNC:56784 NUP50P4 NUP50 pseudogene 4 pseudogene pseudogene Approved 6q13 06q13 2023-04-18 2023-04-18 100127900 ENSG00000219736 NG_022312 PGOHUM00000301433 -HGNC:17359 NUP54 nucleoporin 54 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 nucleoporin 54kDa Nucleoporins 1051 2001-12-12 2016-06-01 2023-01-20 53371 ENSG00000138750 OTTHUMG00000130098 uc003hjs.5 AF157322 NM_001278603 "CCDS3576|CCDS63998" Q7Z3B4 8707840 MGI:1920460 RGD:619926 607607 HGNC:17359 "ENST00000264883.8|NM_017426.4" -HGNC:20261 NUP58 nucleoporin 58 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "KIAA0410|NUP45" NUPL1 "nucleoporin like 1|nucleoporin 58kDa" Nucleoporins 1051 2003-01-16 2015-08-10 2016-06-01 2023-03-15 9818 ENSG00000139496 OTTHUMG00000016608 AB007870 NM_001008564 "CCDS91791|CCDS91790|CCDS31949|CCDS9314" Q9BVL2 9455477 MGI:1919094 RGD:631334 607615 HGNC:20261 "ENST00000381736.8|NM_014089.4" +HGNC:17359 NUP54 nucleoporin 54 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 nucleoporin 54kDa Nucleoporins 1051 2001-12-12 2016-06-01 2023-01-20 53371 ENSG00000138750 OTTHUMG00000130098 uc003hjs.5 AF157322 NM_001278603 "CCDS63998|CCDS3576" Q7Z3B4 8707840 MGI:1920460 RGD:619926 607607 HGNC:17359 "ENST00000264883.8|NM_017426.4" +HGNC:20261 NUP58 nucleoporin 58 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "KIAA0410|NUP45" NUPL1 "nucleoporin like 1|nucleoporin 58kDa" Nucleoporins 1051 2003-01-16 2015-08-10 2016-06-01 2023-03-15 9818 ENSG00000139496 OTTHUMG00000016608 AB007870 NM_001008564 "CCDS91790|CCDS9314|CCDS91791|CCDS31949" Q9BVL2 9455477 MGI:1919094 RGD:631334 607615 HGNC:20261 "ENST00000381736.8|NM_014089.4" HGNC:44052 NUP58P1 nucleoporin 58 pseudogene 1 pseudogene pseudogene Approved 4q28.1 04q28.1 NUPL1P1 "nucleoporin like 1 pseudogene 1|nucleoporin 58kDa pseudogene 1" 2012-05-30 2015-08-10 2016-06-01 2016-06-01 100289295 ENSG00000251436 OTTHUMG00000161150 NG_022035 PGOHUM00000245692 HGNC:44052 HGNC:8066 NUP62 nucleoporin 62 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "p62|DKFZp547L134|IBSN|SNDI|MGC841|FLJ20822|FLJ43869" nuclear pore glycoprotein p62 nucleoporin 62kDa Nucleoporins 1051 2000-01-06 2016-06-01 2023-01-20 23636 ENSG00000213024 OTTHUMG00000183077 uc002pqz.5 X58521 NM_153719 CCDS12788 P37198 1915414 MGI:1351500 RGD:619938 605815 138467 HGNC:8066 "ENST00000352066.8|NM_016553.5" HGNC:8066 HGNC:25960 NUP62CL nucleoporin 62 C-terminal like protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 FLJ20130 nucleoporin 62kDa C-terminal like 2006-07-11 2016-06-01 2023-01-20 54830 ENSG00000198088 OTTHUMG00000022159 uc004ena.4 AK000137 NM_017681 CCDS14527 Q9H1M0 12477932 MGI:2685565 RGD:1564353 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NUP62CL HGNC:25960 "ENST00000372466.8|NM_017681.3" HGNC:8734 NUP85 nucleoporin 85 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "NUP75|FLJ12549" nucleoporin 85kDa Nucleoporins 1051 1995-04-27 2005-11-03 2016-04-01 2023-01-20 79902 ENSG00000125450 OTTHUMG00000179482 uc002jng.2 AF514995 NM_024844 "CCDS32730|CCDS82202" Q9BW27 8124707 MGI:3046173 RGD:1311942 170285 HGNC:8734 "ENST00000245544.9|NM_024844.5" HGNC:8734 -HGNC:8067 NUP88 nucleoporin 88 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 MGC8530 "nucleoporin 88kD|nucleoporin 88kDa" Nucleoporins 1051 1998-05-01 2016-04-01 2023-01-20 4927 ENSG00000108559 OTTHUMG00000099453 uc002gbo.3 Y08612 NM_002532 "CCDS11070|CCDS92236" Q99567 9049309 MGI:104900 RGD:620182 602552 HGNC:8067 "ENST00000573584.6|NM_002532.6" HGNC:8067 +HGNC:8067 NUP88 nucleoporin 88 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 MGC8530 "nucleoporin 88kD|nucleoporin 88kDa" Nucleoporins 1051 1998-05-01 2016-04-01 2023-01-20 4927 ENSG00000108559 OTTHUMG00000099453 uc002gbo.3 Y08612 NM_002532 "CCDS92236|CCDS11070" Q99567 9049309 MGI:104900 RGD:620182 602552 HGNC:8067 "ENST00000573584.6|NM_002532.6" HGNC:8067 HGNC:28958 NUP93 nucleoporin 93 protein-coding gene gene with protein product Approved 16q13 16q13 KIAA0095 nuclear pore complex protein Nup93 nucleoporin 93kDa Nucleoporins 1051 2004-03-19 2016-06-01 2023-01-20 9688 ENSG00000102900 OTTHUMG00000133278 uc002eka.4 D42085 NM_014669 "CCDS10769|CCDS55996" Q8N1F7 "9348540|9531546" MGI:1919055 RGD:1311525 614351 456826 HGNC:28958 "ENST00000308159.10|NM_014669.5" HGNC:28958 HGNC:55370 NUP93-DT NUP93 divergent transcript non-coding RNA RNA, long non-coding Approved 16q13 16q13 Divergent transcripts 1990 2020-11-11 2020-11-11 105371286 ENSG00000261302 NR_184320 -HGNC:8068 NUP98 nucleoporin 98 and 96 precursor protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "NUP96|Nup98-Nup96|Nup98-96|NUP196" "Nuclear pore complex protein Nup98-Nup96|nucleoporin 96" "nucleoporin 98kDa|nucleoporin 98" Nucleoporins 1051 1997-07-04 2019-12-05 2023-01-20 4928 ENSG00000110713 OTTHUMG00000011846 uc001lyh.3 "AF071076|AF231130|BC012906|BG773331" NM_016320 "CCDS91415|CCDS91414|CCDS7746|CCDS91413|CCDS91412|CCDS41605|CCDS41606|CCDS31347" P52948 "9166830|18287282|10087256" MGI:109404 RGD:71033 NUP98 601021 S59.001 HGNC:8068 "ENST00000324932.12|NM_016320.5" -HGNC:29914 NUP107 nucleoporin 107 protein-coding gene gene with protein product Approved 12q15 12q15 NUP84 nuclear pore complex protein Nup107 nucleoporin 107kDa Nucleoporins 1051 2004-03-19 2016-06-01 2023-01-20 57122 ENSG00000111581 OTTHUMG00000169265 uc001suf.4 AK055629 NM_020401 "CCDS81712|CCDS8985" P57740 "12552102|12705868" MGI:2143854 RGD:621160 607617 442980 HGNC:29914 "ENST00000229179.9|NM_020401.4" HGNC:29914 +HGNC:8068 NUP98 nucleoporin 98 and 96 precursor protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "NUP96|Nup98-Nup96|Nup98-96|NUP196" "Nuclear pore complex protein Nup98-Nup96|nucleoporin 96" "nucleoporin 98kDa|nucleoporin 98" Nucleoporins 1051 1997-07-04 2019-12-05 2023-01-20 4928 ENSG00000110713 OTTHUMG00000011846 uc001lyh.3 "AF071076|AF231130|BC012906|BG773331" NM_016320 "CCDS91413|CCDS41605|CCDS31347|CCDS91414|CCDS41606|CCDS91412|CCDS7746|CCDS91415" P52948 "9166830|18287282|10087256" MGI:109404 RGD:71033 NUP98 601021 S59.001 HGNC:8068 "ENST00000324932.12|NM_016320.5" +HGNC:29914 NUP107 nucleoporin 107 protein-coding gene gene with protein product Approved 12q15 12q15 NUP84 nuclear pore complex protein Nup107 nucleoporin 107kDa Nucleoporins 1051 2004-03-19 2016-06-01 2023-01-20 57122 ENSG00000111581 OTTHUMG00000169265 uc001suf.4 AK055629 NM_020401 "CCDS8985|CCDS81712" P57740 "12552102|12705868" MGI:2143854 RGD:621160 607617 442980 HGNC:29914 "ENST00000229179.9|NM_020401.4" HGNC:29914 HGNC:55587 NUP107-DT NUP107 divergent transcript non-coding RNA RNA, long non-coding Approved 12q15 12q15 Divergent transcripts 1990 2021-04-26 2021-04-26 100507250 ENSG00000247363 NR_037888 HGNC:18016 NUP133 nucleoporin 133 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 FLJ10814 nucleoporin 133kDa "Minor histocompatibility antigens|Nucleoporins" "870|1051" 2002-01-18 2016-06-01 2023-01-20 55746 ENSG00000069248 OTTHUMG00000039462 uc001htn.4 NM_018230 CCDS1579 Q8WUM0 11684705 MGI:2442620 RGD:1307827 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=NUP133 607613 HGNC:18016 "ENST00000261396.6|NM_018230.3" HGNC:18016 HGNC:55870 NUP133-DT NUP133 divergent transcript non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Divergent transcripts 1990 2021-09-06 2021-09-06 101927478 ENSG00000223635 NR_110630 -HGNC:8062 NUP153 nucleoporin 153 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 HNUP153 nucleoporin 153kDa "Zinc fingers RANBP2-type |Nucleoporins" "89|1051" 1999-05-11 2016-06-01 2023-01-20 9972 ENSG00000124789 OTTHUMG00000014312 uc011dje.2 Z25535 NM_001278209 "CCDS64359|CCDS75407|CCDS4541" P49790 8110839 MGI:2385621 RGD:3216 603948 HGNC:8062 "ENST00000262077.3|NM_005124.4" +HGNC:8062 NUP153 nucleoporin 153 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 HNUP153 nucleoporin 153kDa "Zinc fingers RANBP2-type |Nucleoporins" "89|1051" 1999-05-11 2016-06-01 2023-01-20 9972 ENSG00000124789 OTTHUMG00000014312 uc011dje.2 Z25535 NM_001278209 "CCDS64359|CCDS4541|CCDS75407" P49790 8110839 MGI:2385621 RGD:3216 603948 HGNC:8062 "ENST00000262077.3|NM_005124.4" HGNC:55217 NUP153-AS1 NUP153 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 Antisense RNAs 1987 2020-08-21 2020-11-11 105374952 ENSG00000272269 NR_134616 -HGNC:8063 NUP155 nucleoporin 155 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "KIAA0791|N155" nucleoporin 155kDa Nucleoporins 1051 1998-10-21 2016-06-01 2023-01-20 9631 ENSG00000113569 OTTHUMG00000090803 uc003jku.3 AJ007558 "NM_153485|NM_004298" "CCDS3921|CCDS43310|CCDS64142" O75694 10191094 MGI:2181182 RGD:621199 606694 183928 HGNC:8063 "ENST00000231498.8|NM_153485.3" HGNC:8063 -HGNC:18017 NUP160 nucleoporin 160 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "KIAA0197|FLJ22583" nucleoporin 160kDa Nucleoporins 1051 2002-01-18 2016-06-01 2023-01-20 23279 ENSG00000030066 OTTHUMG00000166534 uc001ngm.4 D83781 NM_015231 "CCDS31484|CCDS81567" Q12769 11684705 MGI:1926227 RGD:1311052 607614 HGNC:18017 "ENST00000378460.7|NM_015231.3" HGNC:18017 +HGNC:8063 NUP155 nucleoporin 155 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "KIAA0791|N155" nucleoporin 155kDa Nucleoporins 1051 1998-10-21 2016-06-01 2023-01-20 9631 ENSG00000113569 OTTHUMG00000090803 uc003jku.3 AJ007558 "NM_153485|NM_004298" "CCDS3921|CCDS64142|CCDS43310" O75694 10191094 MGI:2181182 RGD:621199 606694 183928 HGNC:8063 "ENST00000231498.8|NM_153485.3" HGNC:8063 +HGNC:18017 NUP160 nucleoporin 160 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "KIAA0197|FLJ22583" nucleoporin 160kDa Nucleoporins 1051 2002-01-18 2016-06-01 2023-01-20 23279 ENSG00000030066 OTTHUMG00000166534 uc001ngm.4 D83781 NM_015231 "CCDS81567|CCDS31484" Q12769 11684705 MGI:1926227 RGD:1311052 607614 HGNC:18017 "ENST00000378460.7|NM_015231.3" HGNC:18017 HGNC:17859 NUP188 nucleoporin 188 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 KIAA0169 "KIAA0169|nucleoporin 188kDa" "Nucleoporins|Armadillo like helical domain containing" "1051|1492" 2003-11-27 2004-03-24 2016-06-01 2023-01-20 23511 ENSG00000095319 OTTHUMG00000020768 uc004bws.3 D79991 NM_015354 CCDS35156 Q5SRE5 11029043 MGI:2446190 RGD:1306022 615587 470806 HGNC:17859 "ENST00000372577.2|NM_015354.3" HGNC:17859 HGNC:18658 NUP205 nucleoporin 205 protein-coding gene gene with protein product Approved 7q33 07q33 KIAA0225 nuclear pore complex protein Nup205 C7orf14 "chromosome 7 open reading frame 14|nucleoporin 205kDa" "Nucleoporins|Armadillo like helical domain containing" "1051|1492" 2002-05-29 2004-01-07 2016-06-01 2023-01-20 23165 ENSG00000155561 OTTHUMG00000155497 uc003vsw.4 D86978 NM_001329434 CCDS34759 Q92621 "9039502|9348540" MGI:2141625 RGD:1309413 614352 456828 HGNC:18658 "ENST00000285968.11|NM_015135.3" HGNC:18658 HGNC:30052 NUP210 nucleoporin 210 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "GP210|POM210|FLJ22389|KIAA0906" nucleoporin 210kDa Nucleoporins 1051 2004-11-17 2016-06-01 2023-01-20 23225 ENSG00000132182 OTTHUMG00000157268 uc003bxv.3 AB020713 NM_024923 CCDS33704 Q8TEM1 "2184032|7504063" MGI:1859555 RGD:69339 607703 HGNC:30052 "ENST00000254508.7|NM_024923.4" HGNC:30052 -HGNC:29915 NUP210L nucleoporin 210 like protein-coding gene gene with protein product Approved 1q21.3 01q21.3 nucleoporin 210kDa like MicroRNA protein coding host genes 1691 2004-11-17 2016-06-01 2023-01-20 91181 ENSG00000143552 OTTHUMG00000035852 uc001fdw.4 AK125924 NM_207308 "CCDS41399|CCDS53370" Q5VU65 MGI:1924845 RGD:1310250 HGNC:29915 +HGNC:29915 NUP210L nucleoporin 210 like protein-coding gene gene with protein product Approved 1q21.3 01q21.3 nucleoporin 210kDa like MicroRNA protein coding host genes 1691 2004-11-17 2016-06-01 2023-01-20 91181 ENSG00000143552 OTTHUMG00000035852 uc001fdw.4 AK125924 NM_207308 "CCDS53370|CCDS41399" Q5VU65 MGI:1924845 RGD:1310250 HGNC:29915 HGNC:27399 NUP210P1 nucleoporin 210 pseudogene 1 pseudogene pseudogene Approved 3q21.3 03q21.3 C3orf46 "chromosome 3 open reading frame 46|nucleoporin 210kDa pseudogene 1" 2006-01-13 2011-08-16 2016-06-01 2016-10-05 255330 ENSG00000198284 OTTHUMG00000159577 BC042038 NR_034158 PGOHUM00000250302 HGNC:27399 HGNC:42707 NUP210P2 nucleoporin 210 pseudogene 2 pseudogene pseudogene Approved 3p25.2 03p25.2 nucleoporin 210kDa pseudogene 2 2011-08-16 2016-06-01 2016-06-01 100129929 ENSG00000225275 OTTHUMG00000155295 NG_022238 PGOHUM00000237936 HGNC:42707 HGNC:42712 NUP210P3 nucleoporin 210 pseudogene 3 pseudogene pseudogene Approved 3q21.3 03q21.3 nucleoporin 210kDa pseudogene 3 2011-08-16 2016-06-01 2016-06-01 100419070 ENSG00000248916 OTTHUMG00000159449 NG_025625 PGOHUM00000237765 HGNC:42712 HGNC:8064 NUP214 nucleoporin 214 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "CAIN|CAN|D9S46E|N214" "nuclear pore complex protein Nup214|CAN protein, putative oncogene" "nucleoporin 214kD (CAIN)|nucleoporin 214kDa" Nucleoporins 1051 1999-05-05 2016-06-01 2023-01-20 8021 ENSG00000126883 OTTHUMG00000020816 uc004cag.4 X64228 NM_005085 "CCDS83429|CCDS6940|CCDS83430" P35658 "8108440|2370860" MGI:1095411 RGD:1304977 LRG_1383|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1383.xml NUP214 114350 168420 HGNC:8064 "ENST00000359428.10|NM_005085.4" HGNC:8064 -HGNC:29990 NUPR1 nuclear protein 1, transcriptional regulator protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "COM1|p8" candidate of metastasis 1 2009-05-21 2015-11-13 2023-01-20 26471 ENSG00000176046 OTTHUMG00000131764 uc002dqe.2 AF069073 NM_012385 "CCDS10634|CCDS42137" O60356 "9405444|10493524|10092851" MGI:1891834 RGD:69363 614812 HGNC:29990 "ENST00000324873.8|NM_012385.3" +HGNC:29990 NUPR1 nuclear protein 1, transcriptional regulator protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "COM1|p8" candidate of metastasis 1 2009-05-21 2015-11-13 2023-01-20 26471 ENSG00000176046 OTTHUMG00000131764 uc002dqe.2 AF069073 NM_012385 "CCDS42137|CCDS10634" O60356 "9405444|10493524|10092851" MGI:1891834 RGD:69363 614812 HGNC:29990 "ENST00000324873.8|NM_012385.3" HGNC:44164 NUPR2 nuclear protein 2, transcriptional regulator protein-coding gene gene with protein product Approved 7p11.2 07p11.2 P8 NUPR1L nuclear protein, transcriptional regulator 1 like 2012-07-02 2015-11-13 2015-11-13 2023-01-20 389493 ENSG00000185290 OTTHUMG00000156224 uc003tsb.4 NM_001145712 CCDS59058 A6NF83 25899918 MGI:1923099 RGD:1560258 HGNC:44164 "ENST00000329309.4|NM_001145712.2" HGNC:56769 NUPR2P1 NUPR2 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2023-03-08 2023-03-08 129810496 ENSG00000272693 HGNC:21042 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "MGC7199|NgBR|TANGO14" "Nogo-B receptor|transport and golgi organization 14 homolog (Drosophila)" C6orf68 "chromosome 6 open reading frame 68|nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)" Dehydrodolichyl diphosphate synthase 1733 2003-05-08 2006-11-24 2019-01-22 2023-01-20 116150 ENSG00000153989 OTTHUMG00000015458 uc003pxw.4 BC013026 NM_138459 CCDS5118 Q96E22 "25066056|28842490" MGI:1196365 RGD:1307879 610463 2.5.1.87 HGNC:21042 "ENST00000368494.4|NM_138459.5" HGNC:21042 @@ -23339,7 +23341,7 @@ HGNC:38472 NUS1P1 NUS1 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 HGNC:38473 NUS1P2 NUS1 pseudogene 2 pseudogene pseudogene Approved 13q12.12 13q12.12 "nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 2|NUS1 dehydrodolichyl diphosphate synthase subunit pseudogene 2" 2010-05-06 2018-04-23 2018-04-23 646208 ENSG00000234685 OTTHUMG00000016556 NG_008458 PGOHUM00000248526 HGNC:38473 HGNC:30934 NUS1P3 NUS1 pseudogene 3 pseudogene pseudogene Approved 13q12.12 13q12.12 YDD19 "nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 3|NUS1 dehydrodolichyl diphosphate synthase subunit pseudogene 3" 2010-05-06 2018-04-23 2018-04-23 11049 ENSG00000234627 OTTHUMG00000016577 U82319 NG_006509 9294218 PGOHUM00000248533 HGNC:30934 HGNC:38474 NUS1P4 NUS1 pseudogene 4 pseudogene pseudogene Approved 13q32.2 13q32.2 "nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 4|NUS1 dehydrodolichyl diphosphate synthase subunit pseudogene 4" 2010-05-06 2018-04-23 2018-04-23 100130167 ENSG00000217686 OTTHUMG00000017251 NG_021964 PGOHUM00000248473 HGNC:38474 -HGNC:18538 NUSAP1 nucleolar and spindle associated protein 1 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ13421|LNP|ANKT|SAPL|BM037|PRO0310p1|Q0310" 2003-11-05 2023-03-15 51203 ENSG00000137804 OTTHUMG00000172588 uc001zns.5 AF290612 NM_016359 "CCDS73708|CCDS45236|CCDS45234|CCDS58358|CCDS58357|CCDS58356" Q9BXS6 12963707 MGI:2675669 RGD:1305764 612818 HGNC:18538 "ENST00000559596.6|NM_016359.5" +HGNC:18538 NUSAP1 nucleolar and spindle associated protein 1 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ13421|LNP|ANKT|SAPL|BM037|PRO0310p1|Q0310" 2003-11-05 2023-03-15 51203 ENSG00000137804 OTTHUMG00000172588 uc001zns.5 AF290612 NM_016359 "CCDS45234|CCDS45236|CCDS73708|CCDS58356|CCDS58357|CCDS58358" Q9BXS6 12963707 MGI:2675669 RGD:1305764 612818 HGNC:18538 "ENST00000559596.6|NM_016359.5" HGNC:13722 NUTF2 nuclear transport factor 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "NTF2|PP15" 2002-08-30 2023-01-20 10204 ENSG00000102898 OTTHUMG00000137540 uc002eup.4 U43939 NM_001322038 CCDS10848 P61970 "7744965|3380696" MGI:1915301 RGD:1359213 605813 HGNC:13722 "ENST00000219169.9|NM_005796.3" HGNC:19934 NUTF2P2 nuclear transport factor 2 pseudogene 2 pseudogene pseudogene Approved 14q13.2 14q13.2 2003-01-13 2014-11-19 326613 ENSG00000258300 OTTHUMG00000170563 NG_002603 PGOHUM00000248136 HGNC:19934 HGNC:50452 NUTF2P3 nuclear transport factor 2 pseudogene 3 pseudogene pseudogene Approved 9q21.2 09q21.2 2014-04-30 2017-03-17 106480298 ENSG00000228248 OTTHUMG00000020057 NG_044239 PGOHUM00000304335 HGNC:50452 @@ -23348,7 +23350,7 @@ HGNC:50454 NUTF2P5 nuclear transport factor 2 pseudogene 5 pseudogene pseudogene HGNC:50455 NUTF2P6 nuclear transport factor 2 pseudogene 6 pseudogene pseudogene Approved 15q14 15q14 2014-04-30 2014-04-30 100131623 ENSG00000259710 OTTHUMG00000172343 NG_030233 PGOHUM00000247088 HGNC:50455 HGNC:50458 NUTF2P7 nuclear transport factor 2 pseudogene 7 pseudogene pseudogene Approved Xq13.1 Xq13.1 2014-04-30 2014-04-30 100287868 ENSG00000229324 OTTHUMG00000021783 NG_030158 PGOHUM00000241377 HGNC:50458 HGNC:50457 NUTF2P8 nuclear transport factor 2 pseudogene 8 pseudogene pseudogene Approved 2p24.1 02p24.1 2014-04-30 2014-04-30 100287183 ENSG00000270654 OTTHUMG00000184437 NG_021496 PGOHUM00000239989 HGNC:50457 -HGNC:29919 NUTM1 NUT midline carcinoma family member 1 protein-coding gene gene with protein product Approved 15q14 15q14 "NUT|DKFZp434O192|FAM22H" nuclear protein in testis C15orf55 chromosome 15 open reading frame 55 2007-11-21 2013-03-14 2016-04-28 2023-01-20 256646 ENSG00000184507 OTTHUMG00000172348 uc001zif.4 AF482429 NM_175741 "CCDS32190|CCDS61584|CCDS61585" Q86Y26 12543779 MGI:2661384 RGD:1564529 NUTM1 608963 449858 HGNC:29919 "ENST00000537011.6|NM_001284292.2" +HGNC:29919 NUTM1 NUT midline carcinoma family member 1 protein-coding gene gene with protein product Approved 15q14 15q14 "NUT|DKFZp434O192|FAM22H" nuclear protein in testis C15orf55 chromosome 15 open reading frame 55 2007-11-21 2013-03-14 2016-04-28 2023-01-20 256646 ENSG00000184507 OTTHUMG00000172348 uc001zif.4 AF482429 NM_175741 "CCDS61584|CCDS61585|CCDS32190" Q86Y26 12543779 MGI:2661384 RGD:1564529 NUTM1 608963 449858 HGNC:29919 "ENST00000537011.6|NM_001284292.2" HGNC:23438 NUTM2A NUT family member 2A protein-coding gene gene with protein product Approved 10q23.2 10q23.2 FAM22A family with sequence similarity 22, member A 2003-11-19 2013-03-14 2013-03-14 2023-01-20 728118 ENSG00000184923 OTTHUMG00000018670 uc001kek.4 NM_001099338 CCDS44452 Q8IVF1 MGI:2685652 431093 HGNC:23438 "ENST00000381707.6|NM_001099338.2" HGNC:45161 NUTM2A-AS1 NUTM2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.2 10q23.2 FAM22A-AS1 FAM22A antisense RNA 1 Antisense RNAs 1987 2013-02-28 2013-03-14 2013-03-14 2013-03-14 728190 ENSG00000223482 OTTHUMG00000018671 uc001kem.4 "AK311174|AK309777" NR_024397 NUTM2A-AS1 HGNC:45161 HGNC:23445 NUTM2B NUT family member 2B protein-coding gene gene with protein product Approved 10q22.3 10q22.3 bA119F19.1 FAM22B family with sequence similarity 22, member B 2004-05-27 2013-03-14 2013-03-14 2023-01-20 729262 ENSG00000188199 OTTHUMG00000018572 uc031wmo.1 NM_001278495 CCDS60574 A6NNL0 MGI:2685652 RGD:1566043 NUTM2B 431097 HGNC:23445 "ENST00000429828.7|NM_001278495.2" @@ -23356,12 +23358,12 @@ HGNC:51204 NUTM2B-AS1 NUTM2B antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:23447 NUTM2D NUT family member 2D protein-coding gene gene with protein product Approved 10q23.2 10q23.2 FAM22D family with sequence similarity 22, member D 2004-05-27 2013-03-14 2013-03-14 2023-03-15 728130 ENSG00000214562 OTTHUMG00000018672 uc001kes.4 NM_001009610 CCDS91292 Q5VT03 MGI:2685652 NUTM2D HGNC:23447 "ENST00000381697.7|NM_001382304.1" HGNC:23448 NUTM2E NUT family member 2E protein-coding gene gene with protein product Approved 10q22.3 10q22.3 FAM22E family with sequence similarity 22, member E 2004-05-27 2013-03-14 2013-03-14 2023-01-20 283008 ENSG00000228570 OTTHUMG00000018586 uc057umg.1 NM_001355263 CCDS91285 B1AL46 MGI:2685652 460693 HGNC:23448 "ENST00000429984.5|NM_001355263.2" HGNC:23450 NUTM2F NUT family member 2F protein-coding gene gene with protein product Approved 9q22.32 09q22.32 DKFZp434I1117 FAM22F family with sequence similarity 22, member F 2004-05-27 2013-05-02 2013-03-14 2023-01-20 54754 ENSG00000130950 OTTHUMG00000020260 NM_017561 CCDS47994 A1L443 MGI:2685652 HGNC:23450 "ENST00000253262.9|NM_017561.2" -HGNC:23449 NUTM2G NUT family member 2G protein-coding gene gene with protein product Approved 9q22.33 09q22.33 FAM22G family with sequence similarity 22, member G 2004-05-27 2013-05-02 2013-03-14 2023-01-20 441457 ENSG00000188152 OTTHUMG00000020305 NM_001170741 "CCDS55329|CCDS43854" Q5VZR2 MGI:2685652 HGNC:23449 "ENST00000372322.4|NM_001170741.3" +HGNC:23449 NUTM2G NUT family member 2G protein-coding gene gene with protein product Approved 9q22.33 09q22.33 FAM22G family with sequence similarity 22, member G 2004-05-27 2013-05-02 2013-03-14 2023-01-20 441457 ENSG00000188152 OTTHUMG00000020305 NM_001170741 "CCDS43854|CCDS55329" Q5VZR2 MGI:2685652 HGNC:23449 "ENST00000372322.4|NM_001170741.3" HGNC:45017 NUTM2HP NUT family member 2H, pseudogene pseudogene pseudogene Approved 10q11.23 10q11.23 FAM22HP family with sequence similarity 22, member H, pseudogene 2013-01-08 2013-05-02 2013-03-14 2013-05-02 729023 ENSG00000232706 OTTHUMG00000018235 NG_028755 PGOHUM00000262858 HGNC:45017 -HGNC:8070 NVL nuclear VCP like protein-coding gene gene with protein product Approved 1q42.11 01q42.11 NVL2 "Nuclear valosin-containing protein-like|nuclear VCP-like protein" "AAA ATPases|MicroRNA protein coding host genes" "413|1691" 1997-09-05 2019-02-18 2023-01-20 4931 ENSG00000143748 OTTHUMG00000037536 uc001hok.4 U78772 NM_002533 "CCDS58062|CCDS1542|CCDS1541|CCDS58063" O15381 9286697 MGI:1914709 RGD:1311270 602426 HGNC:8070 "ENST00000281701.11|NM_002533.4" +HGNC:8070 NVL nuclear VCP like protein-coding gene gene with protein product Approved 1q42.11 01q42.11 NVL2 "Nuclear valosin-containing protein-like|nuclear VCP-like protein" "AAA ATPases|MicroRNA protein coding host genes" "413|1691" 1997-09-05 2019-02-18 2023-01-20 4931 ENSG00000143748 OTTHUMG00000037536 uc001hok.4 U78772 NM_002533 "CCDS58063|CCDS58062|CCDS1541|CCDS1542" O15381 9286697 MGI:1914709 RGD:1311270 602426 HGNC:8070 "ENST00000281701.11|NM_002533.4" HGNC:27619 NWD1 NACHT and WD repeat domain containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 WD repeat domain containing 362 2007-02-08 2023-01-20 284434 ENSG00000188039 OTTHUMG00000164507 uc002neu.5 BX648940 NM_001007525 CCDS32945 Q149M9 MGI:2442268 RGD:2321209 616250 HGNC:27619 "ENST00000524140.7|NM_001007525.5" HGNC:29229 NWD2 NACHT and WD repeat domain containing 2 protein-coding gene gene with protein product Approved 4p14 04p14 KIAA1239 KIAA1239 WD repeat domain containing 362 2006-07-07 2014-03-11 2014-03-11 2023-01-20 57495 ENSG00000174145 OTTHUMG00000157134 AB033065 NM_001144990 CCDS47040 Q9ULI1 10574462 MGI:1920464 RGD:1563065 620172 HGNC:29229 "ENST00000309447.6|NM_001144990.2" -HGNC:8071 NXF1 nuclear RNA export factor 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "TAP|Mex67|DKFZp667O0311" tip associating protein MicroRNA protein coding host genes 1691 2000-06-09 2023-01-20 10482 ENSG00000162231 OTTHUMG00000167612 uc058cnh.1 AF112880 NM_006362 "CCDS8037|CCDS44629" Q9UBU9 "9175835|9660949" MGI:1858330 RGD:62014 602647 HGNC:8071 "ENST00000294172.7|NM_006362.5" +HGNC:8071 NXF1 nuclear RNA export factor 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "TAP|Mex67|DKFZp667O0311" tip associating protein MicroRNA protein coding host genes 1691 2000-06-09 2023-01-20 10482 ENSG00000162231 OTTHUMG00000167612 uc058cnh.1 AF112880 NM_006362 "CCDS44629|CCDS8037" Q9UBU9 "9175835|9660949" MGI:1858330 RGD:62014 602647 HGNC:8071 "ENST00000294172.7|NM_006362.5" HGNC:8072 NXF2 nuclear RNA export factor 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "CT39|TAPL-2" "cancer/testis antigen 39|TAP like protein 2" 2000-06-09 2023-01-20 56001 ENSG00000269405 OTTHUMG00000189320 uc004eix.5 AJ277526 NM_017809 CCDS14497 Q9GZY0 "11073998|11279525" "MGI:1933192|MGI:2159343" 300315 HGNC:8072 "ENST00000625106.4|NM_022053.4" HGNC:23984 NXF2B nuclear RNA export factor 2B protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 bA353J17.1 2007-08-03 2023-01-20 728343 ENSG00000269437 OTTHUMG00000154920 uc022cav.2 NM_001099686 CCDS43979 Q9GZY0 16382448 "MGI:1933192|MGI:2159343" RGD:1559530 HGNC:23984 "ENST00000602195.6|NM_001099686.3" HGNC:8073 NXF3 nuclear RNA export factor 3 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 2000-06-09 2023-01-20 56000 ENSG00000147206 OTTHUMG00000022088 uc004eju.5 AJ277527 NM_022052 CCDS14503 Q9H4D5 11073998 MGI:2685230 RGD:1564923 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NXF3 300316 HGNC:8073 "ENST00000395065.8|NM_022052.2" @@ -23369,12 +23371,12 @@ HGNC:8074 NXF4 nuclear RNA export factor 4 pseudogene pseudogene pseudogene Appr HGNC:8075 NXF5 nuclear RNA export factor 5 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 2000-07-31 2023-03-15 55998 ENSG00000126952 OTTHUMG00000022042 uc065aiu.1 AJ277654 NR_028089 Q9H1B4 11566096 MGI:1933192 RGD:1566170 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NXF5 300319 470808 HGNC:8075 HGNC:18008 NXN nucleoredoxin protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ12614|NRX" Nucleoredoxin family 1466 2002-01-16 2023-01-20 64359 ENSG00000167693 OTTHUMG00000090307 uc002fsa.4 NM_001205319 "CCDS56013|CCDS10998" Q6DKJ4 MGI:109331 RGD:1310489 612895 HGNC:18008 "ENST00000336868.8|NM_022463.5" HGNC:18008 HGNC:25179 NXNL1 nucleoredoxin like 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 RDCVF rod-derived cone viability factor TXNL6 thioredoxin-like 6 Nucleoredoxin family 1466 2004-08-05 2007-08-16 2017-05-15 2023-01-20 115861 ENSG00000171773 OTTHUMG00000182798 uc002ngs.4 BC014127 NM_138454 CCDS12360 Q96CM4 29138681 MGI:1924446 RGD:1308296 608791 HGNC:25179 "ENST00000301944.3|NM_138454.2" HGNC:25179 -HGNC:30482 NXNL2 nucleoredoxin like 2 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 RdCVF2 rod-derived cone viability factor 2 C9orf121 chromosome 9 open reading frame 121 Nucleoredoxin family 1466 2004-04-15 2007-08-16 2017-05-12 2023-01-20 158046 ENSG00000130045 OTTHUMG00000020170 uc011ltj.2 BC022521 NM_145283 "CCDS6679|CCDS55325" Q5VZ03 "22343139|25596499" MGI:1922374 RGD:1594820 615299 HGNC:30482 "ENST00000375854.8|NM_001161625.2" +HGNC:30482 NXNL2 nucleoredoxin like 2 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 RdCVF2 rod-derived cone viability factor 2 C9orf121 chromosome 9 open reading frame 121 Nucleoredoxin family 1466 2004-04-15 2007-08-16 2017-05-12 2023-01-20 158046 ENSG00000130045 OTTHUMG00000020170 uc011ltj.2 BC022521 NM_145283 "CCDS55325|CCDS6679" Q5VZ03 "22343139|25596499" MGI:1922374 RGD:1594820 615299 HGNC:30482 "ENST00000375854.8|NM_001161625.2" HGNC:50561 NXNP1 nucleoredoxin pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 2014-05-21 2014-05-21 100130251 ENSG00000226693 OTTHUMG00000037140 NG_028320 PGOHUM00000259516 HGNC:50561 HGNC:28527 NXPE1 neurexophilin and PC-esterase domain family member 1 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 MGC34290 FAM55A "family with sequence similarity 55, member A|neurexophilin and PC-esterase domain family, member 1" 2005-01-25 2012-06-11 2015-11-18 2023-01-20 120400 ENSG00000095110 OTTHUMG00000168284 uc001ppa.5 BC029049 NM_152315 "CCDS91598|CCDS8372" Q8N323 12477932 RGD:1566243 HGNC:28527 "ENST00000534921.3|NM_001395504.1" HGNC:26331 NXPE2 neurexophilin and PC-esterase domain family member 2 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 FLJ25224 FAM55B "family with sequence similarity 55, member B|neurexophilin and PC-esterase domain family, member 2" 2005-01-25 2012-06-11 2015-11-18 2023-01-20 120406 ENSG00000204361 OTTHUMG00000168293 uc009yyy.3 AK057953 NM_182495 CCDS44738 Q96DL1 MGI:1925502 RGD:2323193 HGNC:26331 "ENST00000389586.6|NM_182495.6" HGNC:44082 NXPE2P1 neurexophilin and PC-esterase domain family member 2 pseudogene 1 pseudogene pseudogene Approved 11q23.2 11q23.2 neurexophilin and PC-esterase domain family, member 2 pseudogene 1 2012-06-11 2015-11-18 2015-11-18 101926945 ENSG00000255982 OTTHUMG00000168290 NG_046621 PGOHUM00000242493 HGNC:44082 -HGNC:28238 NXPE3 neurexophilin and PC-esterase domain family member 3 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 MGC15606 FAM55C "family with sequence similarity 55, member C|neurexophilin and PC-esterase domain family, member 3" 2005-01-25 2012-06-11 2015-11-18 2023-01-20 91775 ENSG00000144815 OTTHUMG00000159179 uc010hpn.4 AK054664 NM_145037 "CCDS93338|CCDS2945" Q969Y0 12975309 MGI:2686598 RGD:1584648 HGNC:28238 "ENST00000273347.10|NM_145037.4" +HGNC:28238 NXPE3 neurexophilin and PC-esterase domain family member 3 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 MGC15606 FAM55C "family with sequence similarity 55, member C|neurexophilin and PC-esterase domain family, member 3" 2005-01-25 2012-06-11 2015-11-18 2023-01-20 91775 ENSG00000144815 OTTHUMG00000159179 uc010hpn.4 AK054664 NM_145037 "CCDS2945|CCDS93338" Q969Y0 12975309 MGI:2686598 RGD:1584648 HGNC:28238 "ENST00000273347.10|NM_145037.4" HGNC:23117 NXPE4 neurexophilin and PC-esterase domain family member 4 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 FLJ20127 "C11orf33|FAM55D" "chromosome 11 open reading frame 33|family with sequence similarity 55, member D|neurexophilin and PC-esterase domain family, member 4" 2003-09-30 2012-06-11 2015-11-18 2023-01-20 54827 ENSG00000137634 OTTHUMG00000168291 uc001ppc.4 AK000134 NM_017678 "CCDS44737|CCDS41718" Q6UWF7 20056006 MGI:1924792 RGD:1560781 618133 HGNC:23117 "ENST00000375478.4|NM_001077639.2" HGNC:20693 NXPH1 neurexophilin 1 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 2003-03-20 2023-01-20 30010 ENSG00000122584 OTTHUMG00000151941 uc003srv.3 AB047362 NM_152745 CCDS47540 P58417 9570794 MGI:107492 RGD:3218 604639 HGNC:20693 "ENST00000405863.6|NM_152745.3" HGNC:8076 NXPH2 neurexophilin 2 protein-coding gene gene with protein product Approved 2q22.1 02q22.1 NPH2 1999-09-16 2023-01-20 11249 ENSG00000144227 OTTHUMG00000153636 uc002tvi.4 AF043467 NM_007226 CCDS46421 O95156 9570794 MGI:107491 RGD:1598138 604635 HGNC:8076 "ENST00000272641.4|NM_007226.3" @@ -23383,7 +23385,7 @@ HGNC:8078 NXPH4 neurexophilin 4 protein-coding gene gene with protein product Ap HGNC:15913 NXT1 nuclear transport factor 2 like export factor 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "P15|MTR2" "NTX2-like export factor1|NTF2-like export factor 1|nuclear transport factor 2-like export factor 1" 2001-06-21 2016-04-05 2023-01-20 29107 ENSG00000132661 OTTHUMG00000032059 uc002wsx.2 AF156957 NM_013248 CCDS13150 Q9UKK6 "10567585|11259602" MGI:1929619 RGD:1309327 605811 HGNC:15913 "ENST00000254998.3|NM_013248.3" HGNC:40734 NXT1-AS1 NXT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 Antisense RNAs 1987 2019-08-16 2019-08-16 105372572 ENSG00000234832 OTTHUMG00000032064 XR_937384 HGNC:40734 HGNC:39708 NXT1P1 nuclear transport factor 2 like export factor 1 pseudogene 1 pseudogene pseudogene Approved 13q13.3 13q13.3 NTF2-like export factor 1 pseudogene 1 2011-03-23 2016-04-05 2017-03-22 100652801 ENSG00000214823 OTTHUMG00000016766 NG_030242 PGOHUM00000291929 HGNC:39708 -HGNC:18151 NXT2 nuclear transport factor 2 like export factor 2 protein-coding gene gene with protein product Approved Xq23 Xq23 P15-2 nuclear transport factor 2-like export factor 2 2002-12-02 2016-04-05 2023-01-20 55916 ENSG00000101888 OTTHUMG00000022185 uc004eof.3 AF246127 NM_018698 "CCDS56605|CCDS14546|CCDS56606" Q9NPJ8 11073998 MGI:2147914 RGD:1560204 300320 HGNC:18151 "ENST00000372106.6|NM_001242617.2" +HGNC:18151 NXT2 nuclear transport factor 2 like export factor 2 protein-coding gene gene with protein product Approved Xq23 Xq23 P15-2 nuclear transport factor 2-like export factor 2 2002-12-02 2016-04-05 2023-01-20 55916 ENSG00000101888 OTTHUMG00000022185 uc004eof.3 AF246127 NM_018698 "CCDS14546|CCDS56606|CCDS56605" Q9NPJ8 11073998 MGI:2147914 RGD:1560204 300320 HGNC:18151 "ENST00000372106.6|NM_001242617.2" HGNC:56212 NXTAR negative expression of androgen receptor regulating lncRNA non-coding RNA RNA, long non-coding Approved Xq12 Xq12 next to androgen receptor Long non-coding RNAs with non-systematic symbols 1992 2022-03-16 2022-03-16 105373241 XR_938423 34740892 HGNC:22009 NYAP1 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ37538 "C7orf51|KIAA1486L" "chromosome 7 open reading frame 51|KIAA1486-like|neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1" 2007-07-10 2011-11-30 2016-03-14 2023-01-20 222950 ENSG00000166924 OTTHUMG00000155290 uc003uvd.3 AK094857 NM_173564 CCDS5696 Q6ZVC0 21946561 MGI:2443880 RGD:1310964 615477 HGNC:22009 "ENST00000300179.7|NM_173564.4" HGNC:29291 NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KIAA1486 KIAA1486 2009-07-09 2011-11-30 2011-11-30 2023-01-20 57624 ENSG00000144460 OTTHUMG00000153450 uc002voe.3 AB040919 NM_020864 "CCDS46529|CCDS92950" Q9P242 "10819331|21946561" MGI:2443135 RGD:9171458 615478 HGNC:29291 "ENST00000272907.8|NM_001371273.1" @@ -23391,54 +23393,54 @@ HGNC:20165 NYNRIN NYN domain and retroviral integrase containing protein-coding HGNC:8082 NYX nyctalopin protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "CLRP|CSNB1A" "CSNB1|CSNB4" 2000-07-31 2023-01-20 60506 ENSG00000188937 OTTHUMG00000021370 uc004dfh.3 AF254868 NM_022567 CCDS14256 Q9GZU5 "11062471|11062472" MGI:2448607 RGD:1561300 Mutations of Nyctalopin|http://www.retina-international.org/files/sci-news/nyxmut.htm 300278 123966 HGNC:8082 "ENST00000378220.3|NM_001378477.3" HGNC:8082 HGNC:44362 OACYLP O-acyltransferase like, pseudogene pseudogene pseudogene Approved 18q21.32 18q21.32 ACYL3P acyltransferase 3, pseudogene 2012-08-20 2012-08-22 390858 ENSG00000224367 OTTHUMG00000154709 DV080257 NR_024021 "20210993|18085818" MGI:2442915 HGNC:44362 HGNC:28752 OAF out at first homolog protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC52117 OAF homolog (Drosophila) 2005-12-22 2015-07-02 2023-01-20 220323 ENSG00000184232 OTTHUMG00000166139 uc001pxb.4 BC047726 NM_178507 CCDS8430 Q86UD1 12477932 MGI:94852 RGD:1305890 HGNC:28752 "ENST00000328965.9|NM_178507.4" -HGNC:21257 OARD1 O-acyl-ADP-ribose deacylase 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "MGC19570|dJ34B21.3|TARG1" terminal ADP-ribose protein glycohydrolase 1 C6orf130 chromosome 6 open reading frame 130 Macro domain containing 1693 2003-05-29 2012-11-06 2012-11-06 2023-01-20 221443 ENSG00000124596 OTTHUMG00000014667 uc003opm.4 AJ420538 NM_145063 "CCDS34445|CCDS87395|CCDS87396|CCDS87397" Q9Y530 21849506 MGI:2146818 RGD:1308299 614393 3.5.1.- HGNC:21257 "ENST00000424266.7|NM_001329686.2" -HGNC:8086 OAS1 2'-5'-oligoadenylate synthetase 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "OIASI|IFI-4" 2'-5' oligoadenylate synthase 1 OIAS "2',5'-oligoadenylate synthetase 1 (40-46 kD)|2'-5'-oligoadenylate synthetase 1, 40/46kDa" 2'-5'-oligoadenylate synthetase family 2093 2001-06-22 2015-11-09 2023-01-20 4938 ENSG00000089127 OTTHUMG00000169792 uc001tuc.4 X04371 NM_001032409 "CCDS91752|CCDS44980|CCDS31905|CCDS81742|CCDS41838|CCDS91755" P00973 "9344649|9325053" "MGI:2180860|MGI:97430|MGI:2149633|MGI:2140770|MGI:2180856|MGI:2180855|MGI:97429|MGI:2180853" RGD:621760 164350 2.7.7.- HGNC:8086 "ENST00000202917.10|NM_016816.4" HGNC:8086 -HGNC:8087 OAS2 2'-5'-oligoadenylate synthetase 2 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "2'-5'-oligoadenylate synthetase 2 (69-71 kD)|2'-5'-oligoadenylate synthetase 2, 69/71kDa" 2'-5'-oligoadenylate synthetase family 2093 1998-06-10 2015-11-09 2023-01-20 4939 ENSG00000111335 OTTHUMG00000169802 uc001tuj.4 M87284 NM_001032731 "CCDS31906|CCDS44982|CCDS41839" P29728 9790745 MGI:2180852 RGD:1359697 603350 HGNC:8087 "ENST00000392583.7|NM_002535.3" +HGNC:21257 OARD1 O-acyl-ADP-ribose deacylase 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "MGC19570|dJ34B21.3|TARG1" terminal ADP-ribose protein glycohydrolase 1 C6orf130 chromosome 6 open reading frame 130 Macro domain containing 1693 2003-05-29 2012-11-06 2012-11-06 2023-01-20 221443 ENSG00000124596 OTTHUMG00000014667 uc003opm.4 AJ420538 NM_145063 "CCDS87395|CCDS34445|CCDS87396|CCDS87397" Q9Y530 21849506 MGI:2146818 RGD:1308299 614393 3.5.1.- HGNC:21257 "ENST00000424266.7|NM_001329686.2" +HGNC:8086 OAS1 2'-5'-oligoadenylate synthetase 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "OIASI|IFI-4" 2'-5' oligoadenylate synthase 1 OIAS "2',5'-oligoadenylate synthetase 1 (40-46 kD)|2'-5'-oligoadenylate synthetase 1, 40/46kDa" 2'-5'-oligoadenylate synthetase family 2093 2001-06-22 2015-11-09 2023-01-20 4938 ENSG00000089127 OTTHUMG00000169792 uc001tuc.4 X04371 NM_001032409 "CCDS41838|CCDS91755|CCDS31905|CCDS91752|CCDS44980|CCDS81742" P00973 "9344649|9325053" "MGI:2180860|MGI:97430|MGI:2149633|MGI:2140770|MGI:2180856|MGI:2180855|MGI:97429|MGI:2180853" RGD:621760 164350 2.7.7.- HGNC:8086 "ENST00000202917.10|NM_016816.4" HGNC:8086 +HGNC:8087 OAS2 2'-5'-oligoadenylate synthetase 2 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "2'-5'-oligoadenylate synthetase 2 (69-71 kD)|2'-5'-oligoadenylate synthetase 2, 69/71kDa" 2'-5'-oligoadenylate synthetase family 2093 1998-06-10 2015-11-09 2023-01-20 4939 ENSG00000111335 OTTHUMG00000169802 uc001tuj.4 M87284 NM_001032731 "CCDS44982|CCDS41839|CCDS31906" P29728 9790745 MGI:2180852 RGD:1359697 603350 HGNC:8087 "ENST00000392583.7|NM_002535.3" HGNC:8088 OAS3 2'-5'-oligoadenylate synthetase 3 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "2'-5'-oligoadenylate synthetase 3 (100 kD)|2'-5'-oligoadenylate synthetase 3, 100kDa" 2'-5'-oligoadenylate synthetase family 2093 1998-06-10 2015-11-09 2023-01-20 4940 ENSG00000111331 OTTHUMG00000169795 uc001tug.4 AF063613 NM_001410984 "CCDS44981|CCDS91756" Q9Y6K5 9790745 MGI:2180850 RGD:1359319 603351 HGNC:8088 "ENST00000228928.12|NM_006187.4" -HGNC:8090 OASL 2'-5'-oligoadenylate synthetase like protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "TRIP14|p59OASL|OASL1" 2'-5'-oligoadenylate synthetase-like 2'-5'-oligoadenylate synthetase family 2093 1998-10-12 2016-03-10 2023-01-20 8638 ENSG00000135114 OTTHUMG00000154981 uc001tzj.3 AF063611 NM_003733 "CCDS9212|CCDS73536|CCDS9211|CCDS91762" Q15646 10087211 MGI:2180849 RGD:1308586 603281 HGNC:8090 "ENST00000257570.10|NM_003733.4" +HGNC:8090 OASL 2'-5'-oligoadenylate synthetase like protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "TRIP14|p59OASL|OASL1" 2'-5'-oligoadenylate synthetase-like 2'-5'-oligoadenylate synthetase family 2093 1998-10-12 2016-03-10 2023-01-20 8638 ENSG00000135114 OTTHUMG00000154981 uc001tzj.3 AF063611 NM_003733 "CCDS73536|CCDS91762|CCDS9212|CCDS9211" Q15646 10087211 MGI:2180849 RGD:1308586 603281 HGNC:8090 "ENST00000257570.10|NM_003733.4" HGNC:53738 OASL2P 2'-5' oligoadenylate synthetase like 2, pseudogene pseudogene pseudogene Approved 12q24.31 12q24.31 2'-5'-oligoadenylate synthetase family 2093 2017-09-27 2021-08-13 111216278 ENSG00000283542 OTTHUMG00000191853 NG_065995 MGI:1344390 HGNC:53738 HGNC:8091 OAT ornithine aminotransferase protein-coding gene gene with protein product Approved 10q26.13 10q26.13 HOGA "Ornithine aminotransferase|ornithine aminotransferase precursor|gyrate atrophy" 2001-06-22 2010-01-20 2023-01-20 4942 ENSG00000065154 OTTHUMG00000019213 uc001lhp.4 BC016928 NM_000274 "CCDS7639|CCDS53586" P04181 1682785 MGI:97394 RGD:621724 LRG_685|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_685.xml 613349 123971 2.6.1.13 HGNC:8091 "ENST00000368845.6|NM_000274.4" HGNC:8091 HGNC:8094 OATP1 ornithine aminotransferase pseudogene 1 pseudogene pseudogene Approved 10q26 10q26 OATL3 ornithine aminotransferase-like 3 (pseudogene) 1993-09-08 2010-10-15 2010-10-15 2010-10-15 4945 S65768 NG_001169 8406505 HGNC:8094 -HGNC:8095 OAZ1 ornithine decarboxylase antizyme 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "AZI|MGC138338|AZ1" antizyme 1 OAZ 1996-03-19 2023-01-20 4946 ENSG00000104904 OTTHUMG00000178459 uc002lvk.4 NM_004152 "CCDS77214|CCDS58639" P54368 "7811704|8954789" MGI:109433 RGD:3219 601579 HGNC:8095 +HGNC:8095 OAZ1 ornithine decarboxylase antizyme 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "AZI|MGC138338|AZ1" antizyme 1 OAZ 1996-03-19 2023-01-20 4946 ENSG00000104904 OTTHUMG00000178459 uc002lvk.4 NM_004152 "CCDS58639|CCDS77214" P54368 "7811704|8954789" MGI:109433 RGD:3219 601579 HGNC:8095 HGNC:54556 OAZ1P1 OAZ1 pseudogene 1 pseudogene pseudogene Approved 1p34.2 01p34.2 2019-10-14 2019-10-14 728602 ENSG00000226745 NG_022778 HGNC:8096 OAZ2 ornithine decarboxylase antizyme 2 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 1998-06-22 2023-01-20 4947 ENSG00000180304 OTTHUMG00000172473 uc002ano.3 AF057297 NM_002537 CCDS58372 O95190 "9782076|10352227" MGI:109492 RGD:1562933 604152 HGNC:8096 -HGNC:8097 OAZ3 ornithine decarboxylase antizyme 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 2000-08-01 2023-01-20 51686 ENSG00000143450 OTTHUMG00000013061 uc010pdl.4 AF175296 NM_016178 "CCDS76216|CCDS58028|CCDS81378" Q9UMX2 10781085 MGI:1858170 RGD:1599278 605138 HGNC:8097 +HGNC:8097 OAZ3 ornithine decarboxylase antizyme 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 2000-08-01 2023-01-20 51686 ENSG00000143450 OTTHUMG00000013061 uc010pdl.4 AF175296 NM_016178 "CCDS58028|CCDS76216|CCDS81378" Q9UMX2 10781085 MGI:1858170 RGD:1599278 605138 HGNC:8097 HGNC:20308 OBI1 ORC ubiquitin ligase 1 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 FLJ13449 "C13orf7|RNF219" "chromosome 13 open reading frame 7|ring finger protein 219" Ring finger proteins 58 2003-01-24 2019-06-14 2019-06-14 2023-01-20 79596 ENSG00000152193 OTTHUMG00000017122 uc001vkw.2 BC028586 NM_024546 CCDS31997 Q5W0B1 31160578 MGI:1919736 RGD:1564706 615906 HGNC:20308 "ENST00000282003.7|NM_024546.4" HGNC:42700 OBI1-AS1 OBI1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q22.3-q31.1 13q22.3-q31.1 "POU4F1-AS1|RNF219-AS1" "POU4F1 antisense RNA 1|RNF219 antisense RNA 1" Antisense RNAs 1987 2011-08-16 2019-06-14 2019-06-14 2019-06-14 100874222 ENSG00000234377 OTTHUMG00000185746 uc001vks.3 NR_047001 RNF219-AS1 HGNC:42700 -HGNC:23380 OBP2A odorant binding protein 2A protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "hOBPIIa|OBP|LCN13" Lipocalins 631 2003-11-14 2023-01-20 29991 ENSG00000122136 OTTHUMG00000020909 uc004cgb.3 AJ251029 NM_014582 "CCDS78456|CCDS6992|CCDS78455" Q9NY56 "MGI:102668|MGI:3651927" RGD:1588212 164320 HGNC:23380 "ENST00000371776.6|NM_014582.3" +HGNC:23380 OBP2A odorant binding protein 2A protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "hOBPIIa|OBP|LCN13" Lipocalins 631 2003-11-14 2023-01-20 29991 ENSG00000122136 OTTHUMG00000020909 uc004cgb.3 AJ251029 NM_014582 "CCDS78456|CCDS78455|CCDS6992" Q9NY56 "MGI:102668|MGI:3651927" RGD:1588212 164320 HGNC:23380 "ENST00000371776.6|NM_014582.3" HGNC:23381 OBP2B odorant binding protein 2B protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "hOBPIIb|LCN14" Lipocalins 631 2003-11-14 2023-01-20 29989 ENSG00000171102 OTTHUMG00000020860 uc033djy.2 AJ251026 NM_014581 CCDS6961 Q9NPH6 "MGI:102668|MGI:2387617" RGD:708374 604606 HGNC:23381 "ENST00000372034.8|NM_014581.4" -HGNC:15719 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "KIAA1556|UNC89|KIAA1639|ARHGEF30" "Fibronectin type III domain containing|I-set domain containing|Dbl family Rho GEFs|Myosin light chain kinase family" "555|593|722|1668" 2001-05-21 2023-01-20 84033 ENSG00000154358 OTTHUMG00000039772 uc001hsq.2 AJ002535 NM_052843 "CCDS1570|CCDS59204|CCDS58065|CCDS91171" Q5VST9 "11448995|11814696" MGI:2681862 RGD:631335 LRG_412|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_412.xml 608616 470810 objectId:2131 HGNC:15719 "ENST00000680850.1|NM_001386125.1" HGNC:15719 +HGNC:15719 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "KIAA1556|UNC89|KIAA1639|ARHGEF30" "Fibronectin type III domain containing|I-set domain containing|Dbl family Rho GEFs|Myosin light chain kinase family" "555|593|722|1668" 2001-05-21 2023-01-20 84033 ENSG00000154358 OTTHUMG00000039772 uc001hsq.2 AJ002535 NM_052843 "CCDS1570|CCDS58065|CCDS91171|CCDS59204" Q5VST9 "11448995|11814696" MGI:2681862 RGD:631335 LRG_412|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_412.xml 608616 470810 objectId:2131 HGNC:15719 "ENST00000680850.1|NM_001386125.1" HGNC:15719 HGNC:32047 OBSCN-AS1 OBSCN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 FLJ31994 C1orf145 chromosome 1 open reading frame 145 Antisense RNAs 1987 2005-07-11 2017-04-19 2017-04-19 2023-02-09 574407 ENSG00000162913 OTTHUMG00000039770 uc057qdy.1 AK056556 NR_073154 Q96MR7 34015411 HGNC:32047 HGNC:29092 OBSL1 obscurin like cytoskeletal adaptor 1 protein-coding gene gene with protein product Approved 2q35 02q35 KIAA0657 obscurin like 1 I-set domain containing 593 2005-10-20 2019-08-12 2023-01-20 23363 ENSG00000124006 OTTHUMG00000059157 uc010fwk.4 BC007201 NM_001173408 "CCDS63134|CCDS46520|CCDS54433" O75147 "9734811|17289344" MGI:2138628 RGD:1306073 610991 201543 HGNC:29092 "ENST00000404537.6|NM_015311.3" HGNC:29092 HGNC:8100 OC90 otoconin 90 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 PLA2L 1999-01-19 2023-01-20 729330 ENSG00000253117 OTTHUMG00000164672 uc011lix.1 Z14310 NM_001080399 CCDS47919 Q02509 "10329003|9860971" MGI:1313269 RGD:1593441 601658 HGNC:8100 "ENST00000254627.4|NM_001080399.3" HGNC:8101 OCA2 OCA2 melanosomal transmembrane protein protein-coding gene gene with protein product Approved 15q12-q13.1 15q12-q13.1 "BEY2|EYCL|BEY|BEY1" "melanocyte-specific transporter protein|P-protein" "D15S12|P|EYCL3|EYCL2" "eye color 3 (brown)|eye color 2 (central brown)|oculocutaneous albinism II (pink-eye dilution homolog, mouse)" 1993-02-05 2016-01-14 2023-01-20 4948 ENSG00000104044 OTTHUMG00000128871 uc001zbh.6 NM_000275 "CCDS10020|CCDS73701" Q04671 MGI:97454 RGD:2318412 "Mutations of the P-Gene|http://www.retina-international.org/files/sci-news/pgenemut.htm|Albinism Database|http://albinismdb.med.umn.edu/" 611409 123974 HGNC:8101 "ENST00000354638.8|NM_000275.3" HGNC:8101 HGNC:26221 OCEL1 occludin/ELL domain containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 FLJ22709 2006-08-22 2023-01-20 79629 ENSG00000099330 OTTHUMG00000182726 uc002nfp.4 BC029361 NM_024578 CCDS12351 Q9H607 12477932 MGI:1924340 RGD:1565407 HGNC:26221 "ENST00000215061.9|NM_024578.3" HGNC:26221 -HGNC:16074 OCIAD1 OCIA domain containing 1 protein-coding gene gene with protein product Approved 4p11 04p11 "FLJ20455|TPA018|OCIA|Asrij" ovarian cancer immunoreactive antigen domain containing 1  2004-09-15 2023-03-14 54940 ENSG00000109180 OTTHUMG00000102095 uc003gyo.4 AF324350 NM_017830 "CCDS43228|CCDS47052|CCDS3484" Q9NX40 "11162530|18328549|34034859" MGI:1915345 RGD:1359549 619596 HGNC:16074 "ENST00000264312.12|NM_017830.4" +HGNC:16074 OCIAD1 OCIA domain containing 1 protein-coding gene gene with protein product Approved 4p11 04p11 "FLJ20455|TPA018|OCIA|Asrij" ovarian cancer immunoreactive antigen domain containing 1  2004-09-15 2023-03-14 54940 ENSG00000109180 OTTHUMG00000102095 uc003gyo.4 AF324350 NM_017830 "CCDS47052|CCDS43228|CCDS3484" Q9NX40 "11162530|18328549|34034859" MGI:1915345 RGD:1359549 619596 HGNC:16074 "ENST00000264312.12|NM_017830.4" HGNC:40751 OCIAD1-AS1 OCIAD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p11 04p11 OCIAD1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-01 2012-08-15 2014-11-19 100861517 ENSG00000248256 OTTHUMG00000163197 uc062wmm.1 "AI018597|BG200457" NR_146806 OCIAD1-AS1 HGNC:40751 -HGNC:28685 OCIAD2 OCIA domain containing 2 protein-coding gene gene with protein product Approved 4p11 04p11 MGC45416 ovarian cancer immunoreactive antigen domain containing 2 Mitochondrial respiratory chain complex assembly factors 645 2004-09-15 2023-04-12 132299 ENSG00000145247 OTTHUMG00000128626 uc003gyt.5 BC032808 NM_152398 "CCDS3485|CCDS33981" Q56VL3 "17054434|35080992" MGI:1916377 RGD:2319541 619633 HGNC:28685 "ENST00000508632.6|NM_001014446.3" +HGNC:28685 OCIAD2 OCIA domain containing 2 protein-coding gene gene with protein product Approved 4p11 04p11 MGC45416 ovarian cancer immunoreactive antigen domain containing 2 Mitochondrial respiratory chain complex assembly factors 645 2004-09-15 2023-04-12 132299 ENSG00000145247 OTTHUMG00000128626 uc003gyt.5 BC032808 NM_152398 "CCDS33981|CCDS3485" Q56VL3 "17054434|35080992" MGI:1916377 RGD:2319541 619633 HGNC:28685 "ENST00000508632.6|NM_001014446.3" HGNC:31827 OCIAD2P1 OCIA domain containing 2 pseudogene 1 pseudogene pseudogene Approved 8q21.13 08q21.13 OCIAD2 pseudogene 1 2004-09-15 2010-03-19 2020-04-20 100287085 NG_017000 PGOHUM00000249401 HGNC:31827 -HGNC:8104 OCLN occludin protein-coding gene gene with protein product Approved 5q13.2 05q13.2 PPP1R115 "tight junction protein occludin TM4 minus|phosphatase 1, regulatory subunit 115" "Protein phosphatase 1 regulatory subunits|Tetraspan junctional complex superfamily|MARVEL domain containing" "694|1471|1626" 1998-01-20 2023-01-20 100506658 ENSG00000197822 OTTHUMG00000099356 uc003jwu.3 U49184 NM_002538 "CCDS4006|CCDS54864|CCDS93725" Q16625 8601611 MGI:106183 RGD:620089 602876 239959 HGNC:8104 "ENST00000396442.7|NM_001205254.2" HGNC:8104 +HGNC:8104 OCLN occludin protein-coding gene gene with protein product Approved 5q13.2 05q13.2 PPP1R115 "tight junction protein occludin TM4 minus|phosphatase 1, regulatory subunit 115" "Protein phosphatase 1 regulatory subunits|Tetraspan junctional complex superfamily|MARVEL domain containing" "694|1471|1626" 1998-01-20 2023-01-20 100506658 ENSG00000197822 OTTHUMG00000099356 uc003jwu.3 U49184 NM_002538 "CCDS93725|CCDS4006|CCDS54864" Q16625 8601611 MGI:106183 RGD:620089 602876 239959 HGNC:8104 "ENST00000396442.7|NM_001205254.2" HGNC:8104 HGNC:53916 OCLNP1 OCLN pseudogene 1 pseudogene pseudogene Approved 5q13.2 05q13.2 2018-06-06 2018-06-06 647859 ENSG00000230847 OTTHUMG00000162521 NR_026578 PGOHUM00000300624 HGNC:53916 HGNC:8105 OCM oncomodulin protein-coding gene gene with protein product Approved 7p22.1 07p22.1 OCM1 "oncomodulin 1|beta parvalbumin" EF-hand domain containing 863 1992-04-16 2023-01-20 654231 ENSG00000122543 OTTHUMG00000155499 uc064bff.1 BC069468 NM_001097622 CCDS43548 P0CE72 "1559707|8354278" MGI:97401 RGD:3222 164795 HGNC:8105 "ENST00000242104.6|NM_001097622.2" HGNC:34396 OCM2 oncomodulin 2 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 EF-hand domain containing 863 2008-10-30 2023-01-20 4951 ENSG00000135175 OTTHUMG00000154162 uc003upc.4 BC156841 NM_006188 CCDS5653 P0CE71 MGI:97401 HGNC:34396 "ENST00000257627.5|NM_006188.4" -HGNC:8108 OCRL OCRL inositol polyphosphate-5-phosphatase protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "OCRL1|Dent-2" Dent disease 2 oculocerebrorenal syndrome of Lowe Phosphoinositide phosphatases 1079 2001-06-22 2019-01-22 2023-01-20 4952 ENSG00000122126 OTTHUMG00000022706 uc004euq.4 U57627 NM_000276 "CCDS35393|CCDS35394" Q01968 MGI:109589 RGD:1594526 "Database of the OCRL1 Mutations Causing Lowe Syndrome|http://research.nhgri.nih.gov/lowe/|LOVD at NCBI|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=OCRL" 300535 123978 objectId:1460 3.1.3.36 HGNC:8108 "ENST00000371113.9|NM_000276.4" HGNC:8108 +HGNC:8108 OCRL OCRL inositol polyphosphate-5-phosphatase protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "OCRL1|Dent-2" Dent disease 2 oculocerebrorenal syndrome of Lowe Phosphoinositide phosphatases 1079 2001-06-22 2019-01-22 2023-01-20 4952 ENSG00000122126 OTTHUMG00000022706 uc004euq.4 U57627 NM_000276 "CCDS35394|CCDS35393" Q01968 MGI:109589 RGD:1594526 "Database of the OCRL1 Mutations Causing Lowe Syndrome|http://research.nhgri.nih.gov/lowe/|LOVD at NCBI|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=OCRL" 300535 123978 objectId:1460 3.1.3.36 HGNC:8108 "ENST00000371113.9|NM_000276.4" HGNC:8108 HGNC:16116 OCSTAMP osteoclast stimulatory transmembrane protein protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ257E24.3 C20orf123 chromosome 20 open reading frame 123 2001-07-17 2012-03-27 2012-03-27 2023-01-20 128506 ENSG00000149635 OTTHUMG00000032652 uc010zxu.3 AL034424 NM_080721 CCDS54468 Q9BR26 18064667 MGI:1921864 RGD:1308620 HGNC:16116 "ENST00000279028.3|NM_080721.3" -HGNC:26560 ODAD1 outer dynein arm docking complex subunit 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ32926|CILD20" CCDC114 coiled-coil domain containing 114 Outer dynein arm docking complex subunits 2019 2006-06-21 2020-09-21 2020-09-21 2023-01-20 93233 ENSG00000105479 OTTHUMG00000156161 uc002pir.3 BC025752 NM_144577 "CCDS12714|CCDS92659" Q96M63 "23261302|23261303" MGI:2446120 RGD:1308141 615038 323398 HGNC:26560 "ENST00000674294.1|NM_001364171.2" HGNC:26560 -HGNC:25583 ODAD2 outer dynein arm docking complex subunit 2 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "FLJ10817|FLJ10376|DKFZP434P1735|CILD23|gudu" ARMC4 armadillo repeat containing 4 "Armadillo repeat containing|Outer dynein arm docking complex subunits" "409|2019" 2004-02-04 2020-09-21 2020-09-21 2023-01-20 55130 ENSG00000169126 OTTHUMG00000017867 uc001itz.3 AL136859 NM_018076 "CCDS7157|CCDS91233|CCDS91232" Q5T2S8 "11230166|24055424" MGI:1922184 RGD:1306933 615408 360481 HGNC:25583 "ENST00000305242.10|NM_018076.5" HGNC:25583 +HGNC:26560 ODAD1 outer dynein arm docking complex subunit 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ32926|CILD20" CCDC114 coiled-coil domain containing 114 Outer dynein arm docking complex subunits 2019 2006-06-21 2020-09-21 2020-09-21 2023-01-20 93233 ENSG00000105479 OTTHUMG00000156161 uc002pir.3 BC025752 NM_144577 "CCDS92659|CCDS12714" Q96M63 "23261302|23261303" MGI:2446120 RGD:1308141 615038 323398 HGNC:26560 "ENST00000674294.1|NM_001364171.2" HGNC:26560 +HGNC:25583 ODAD2 outer dynein arm docking complex subunit 2 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "FLJ10817|FLJ10376|DKFZP434P1735|CILD23|gudu" ARMC4 armadillo repeat containing 4 "Armadillo repeat containing|Outer dynein arm docking complex subunits" "409|2019" 2004-02-04 2020-09-21 2020-09-21 2023-01-20 55130 ENSG00000169126 OTTHUMG00000017867 uc001itz.3 AL136859 NM_018076 "CCDS91233|CCDS91232|CCDS7157" Q5T2S8 "11230166|24055424" MGI:1922184 RGD:1306933 615408 360481 HGNC:25583 "ENST00000305242.10|NM_018076.5" HGNC:25583 HGNC:44937 ODAD2P1 outer dynein arm docking complex subunit 2 pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 ARMC4P1 armadillo repeat containing 4 pseudogene 1 2012-12-19 2020-09-21 2020-09-21 2020-09-21 101060171 ENSG00000238021 OTTHUMG00000017856 NR_138082 PGOHUM00000290076 HGNC:44937 HGNC:28303 ODAD3 outer dynein arm docking complex subunit 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC20983|ODA10" CCDC151 coiled-coil domain containing 151 Outer dynein arm docking complex subunits 2019 2008-04-10 2020-09-21 2020-09-21 2023-01-20 115948 ENSG00000198003 OTTHUMG00000182028 uc002mrs.5 NM_145045 "CCDS42501|CCDS77237" A5D8V7 24067530 MGI:1924859 RGD:1310048 615956 411117 HGNC:28303 "ENST00000356392.9|NM_145045.5" HGNC:28303 HGNC:25280 ODAD4 outer dynein arm docking complex subunit 4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 DKFZP434H0115 TTC25 tetratricopeptide repeat domain 25 "Tetratricopeptide repeat domain containing|Outer dynein arm docking complex subunits" "769|2019" 2005-12-14 2020-09-21 2020-09-21 2023-01-20 83538 ENSG00000204815 OTTHUMG00000175837 uc032fin.2 AK055498 NM_031421 CCDS74063 Q96NG3 27486780 MGI:1921657 RGD:1311859 617095 464166 HGNC:25280 "ENST00000377540.6|NM_031421.5" HGNC:25280 -HGNC:26043 ODAM odontogenic, ameloblast associated protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "APin|FLJ20513" 2006-07-06 2017-08-04 2023-01-20 54959 ENSG00000109205 OTTHUMG00000129406 uc003hfc.4 AK000520 NM_017855 CCDS3536 A1E959 14647039 MGI:1916842 RGD:1561883 614843 HGNC:26043 "ENST00000683306.1|NM_017855.4" -HGNC:26300 ODAPH odontogenesis associated phosphoprotein protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "FLJ23657|AI2A4" amelogenesis imperfecta type IIA4 C4orf26 chromosome 4 open reading frame 26 2006-05-22 2017-08-09 2017-08-09 2023-01-20 152816 ENSG00000174792 OTTHUMG00000130104 uc003hip.3 AK074237 NM_178497 "CCDS3569|CCDS56334|CCDS75142" Q17RF5 "22901946|27558265" MGI:2685891 RGD:6489816 614829 310402 HGNC:26300 "ENST00000311623.9|NM_178497.5" HGNC:26300 +HGNC:26043 ODAM odontogenic, ameloblast associated protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "APin|FLJ20513" Secretory calcium-binding phosphoprotein family 2245 2006-07-06 2017-08-04 2023-01-20 54959 ENSG00000109205 OTTHUMG00000129406 uc003hfc.4 AK000520 NM_017855 CCDS3536 A1E959 14647039 MGI:1916842 RGD:1561883 614843 HGNC:26043 "ENST00000683306.1|NM_017855.4" +HGNC:26300 ODAPH odontogenesis associated phosphoprotein protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "FLJ23657|AI2A4" amelogenesis imperfecta type IIA4 C4orf26 chromosome 4 open reading frame 26 2006-05-22 2017-08-09 2017-08-09 2023-01-20 152816 ENSG00000174792 OTTHUMG00000130104 uc003hip.3 AK074237 NM_178497 "CCDS75142|CCDS56334|CCDS3569" Q17RF5 "22901946|27558265" MGI:2685891 RGD:6489816 614829 310402 HGNC:26300 "ENST00000311623.9|NM_178497.5" HGNC:26300 HGNC:8109 ODC1 ornithine decarboxylase 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 ODC Small nucleolar RNA protein coding host genes 1835 2001-06-22 2023-01-20 4953 ENSG00000115758 OTTHUMG00000090450 uc002rao.3 NM_001287188 CCDS1672 P11926 MGI:97402 RGD:3227 165640 470812 objectId:1276 4.1.1.17 HGNC:8109 "ENST00000234111.9|NM_002539.3" HGNC:54070 ODC1-DT ODC1 divergent transcript non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 lncRNA-MIF c-Myc inhibitory factor Divergent transcripts 1990 2018-10-24 2018-10-24 101929715 ENSG00000257135 NR_110597 27317567 HGNC:54070 HGNC:8110 ODCP ornithine decarboxylase pseudogene pseudogene pseudogene Approved 7q32.1 07q32.1 ODC2 2001-06-22 2015-03-19 4954 ENSG00000244556 OTTHUMG00000158406 NG_023428 PGOHUM00000302931 HGNC:8110 HGNC:8113 ODF1 outer dense fiber of sperm tails 1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "ODFPG|ODF27|RT7|HSPB10|CT133" cancer/testis antigen 133 outer dense fibre of sperm tails 1 Small heat shock proteins 585 1994-10-25 2002-10-21 2023-01-20 4956 ENSG00000155087 OTTHUMG00000164719 uc003ykt.3 M93131 NM_024410 CCDS6293 Q14990 8305202 MGI:97424 RGD:3228 182878 HGNC:8113 "ENST00000285402.4|NM_024410.4" -HGNC:8114 ODF2 outer dense fiber of sperm tails 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "ODF84|CT134" "cancer/testis antigen 134|cenexin" outer dense fibre of sperm tails 2 1998-07-03 2002-10-21 2023-03-15 4957 ENSG00000136811 OTTHUMG00000020748 uc064wes.1 AF012549 NM_001242352 "CCDS94497|CCDS94498|CCDS56589|CCDS56585|CCDS56586|CCDS6902|CCDS56588|CCDS56590|CCDS56587" Q5BJF6 "9045620|10072582" MGI:1098824 RGD:3229 602015 HGNC:8114 "ENST00000351030.8|NM_001351578.2" +HGNC:8114 ODF2 outer dense fiber of sperm tails 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "ODF84|CT134" "cancer/testis antigen 134|cenexin" outer dense fibre of sperm tails 2 1998-07-03 2002-10-21 2023-03-15 4957 ENSG00000136811 OTTHUMG00000020748 uc064wes.1 AF012549 NM_001242352 "CCDS56590|CCDS56589|CCDS56587|CCDS94497|CCDS6902|CCDS94498|CCDS56585|CCDS56588|CCDS56586" Q5BJF6 "9045620|10072582" MGI:1098824 RGD:3229 602015 HGNC:8114 "ENST00000351030.8|NM_001351578.2" HGNC:49461 ODF2-AS1 ODF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Antisense RNAs 1987 2013-12-06 2013-12-06 107080620 ENSG00000225951 OTTHUMG00000020745 AW303426 NR_170291 ODF2-AS1 -HGNC:29225 ODF2L outer dense fiber of sperm tails 2 like protein-coding gene gene with protein product Approved 1p22.3 01p22.3 KIAA1229 outer dense fiber of sperm tails 2-like MicroRNA protein coding host genes 1691 2005-08-17 2016-02-23 2023-01-20 57489 ENSG00000122417 OTTHUMG00000010080 uc001dlm.3 NM_001007022 "CCDS41354|CCDS30763|CCDS53339|CCDS90996|CCDS90997" Q9ULJ1 10574462 MGI:1098600 RGD:1593831 620130 HGNC:29225 "ENST00000460698.7|NM_001366781.1" +HGNC:29225 ODF2L outer dense fiber of sperm tails 2 like protein-coding gene gene with protein product Approved 1p22.3 01p22.3 KIAA1229 outer dense fiber of sperm tails 2-like MicroRNA protein coding host genes 1691 2005-08-17 2016-02-23 2023-01-20 57489 ENSG00000122417 OTTHUMG00000010080 uc001dlm.3 NM_001007022 "CCDS53339|CCDS90996|CCDS30763|CCDS90997|CCDS41354" Q9ULJ1 10574462 MGI:1098600 RGD:1593831 620130 HGNC:29225 "ENST00000460698.7|NM_001366781.1" HGNC:19056 ODF4 outer dense fiber of sperm tails 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "OPPO1|CT136" cancer/testis antigen 136 2002-12-09 2023-01-20 146852 ENSG00000184650 OTTHUMG00000108190 uc002gle.2 AB081120 NM_001319953 "CCDS82069|CCDS11140" Q2M2E3 MGI:2182079 RGD:1359332 610097 HGNC:19056 "ENST00000328248.7|NM_153007.5" HGNC:19056 -HGNC:24299 ODR4 odr-4 GPCR localization factor homolog protein-coding gene gene with protein product Approved 1q31.1 01q31.1 "FLJ20505|odr-4|TTG1" "transactivated by recombinant transforming growth factor beta 1|LAG1-interacting protein" C1orf27 chromosome 1 open reading frame 27 2004-11-30 2017-10-17 2017-10-17 2023-01-20 54953 ENSG00000157181 OTTHUMG00000035579 uc057nzd.1 BC003397 NM_017847 "CCDS53450|CCDS53449|CCDS53448" Q5SWX8 "12868032|15718105|24603482|35551911" MGI:2385108 RGD:1307830 609335 HGNC:24299 "ENST00000287859.11|NM_017847.6" +HGNC:24299 ODR4 odr-4 GPCR localization factor homolog protein-coding gene gene with protein product Approved 1q31.1 01q31.1 "FLJ20505|odr-4|TTG1" "transactivated by recombinant transforming growth factor beta 1|LAG1-interacting protein" C1orf27 chromosome 1 open reading frame 27 2004-11-30 2017-10-17 2017-10-17 2023-01-20 54953 ENSG00000157181 OTTHUMG00000035579 uc057nzd.1 BC003397 NM_017847 "CCDS53448|CCDS53449|CCDS53450" Q5SWX8 "12868032|15718105|24603482|35551911" MGI:2385108 RGD:1307830 609335 HGNC:24299 "ENST00000287859.11|NM_017847.6" HGNC:21017 OFCC1 orofacial cleft 1 candidate 1 (pseudogene) pseudogene pseudogene Approved 6p24.3 06p24.3 "MRDS1|Opo" ojoplano orofacial cleft 1 candidate 1 2003-05-02 2022-09-16 2023-03-15 266553 ENSG00000181355 OTTHUMG00000159104 uc063lsn.1 AF548113 NM_153003 Q8IZS5 "15218257|22242126" MGI:2658851 RGD:1589812 614287 HGNC:21017 HGNC:2567 OFD1 OFD1 centriole and centriolar satellite protein protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "71-7A|JBTS10" Joubert syndrome type 10 "CXorf5|RP23" "retinitis pigmentosa 23 (X-linked recessive)|oral-facial-digital syndrome 1" 1998-10-01 2019-01-22 2023-03-15 8481 ENSG00000046651 OTTHUMG00000021159 uc004cvp.5 Y15164 NM_003611 "CCDS14157|CCDS83454" O75665 "9722947|9215688|22619378|20230748|21266464" MGI:1350328 RGD:1562231 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/OFD1 300170 123982 HGNC:2567 "ENST00000340096.11|NM_003611.3" HGNC:2567 HGNC:23873 OFD1P1Y OFD1 pseudogene 1 Y-linked pseudogene pseudogene Approved Yq11.222 Yq11.222 "OFDYP1|OFD1P1" OFD1 pseudogene Y-linked 1 2004-05-24 2010-06-28 2018-04-30 2018-04-30 378009 ENSG00000226011 OTTHUMG00000041650 NG_003114 12815422 PGOHUM00000233974 HGNC:23873 @@ -23460,17 +23462,17 @@ HGNC:18213 OFD1P16Y OFD1 pseudogene 16 Y-linked pseudogene pseudogene Approved Y HGNC:1332 OFD1P17 OFD1 pseudogene 17 pseudogene pseudogene Approved 5p13.2 05p13.2 "71-7A3|71-7A5" "C5orf1|OFD1P1" oral-facial-digital syndrome 1, pseudogene 1 1998-10-01 2010-05-12 2010-05-12 2016-10-05 23738 ENSG00000228212 OTTHUMG00000162066 NG_032772 9722947 PGOHUM00000235564 HGNC:1332 HGNC:2589 OFD1P18Y OFD1 pseudogene 18 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 71-7A2 "CYorf1|OFD1P18|OFD1PY18" "chromosome Y open reading frame 1|OFD1 pseudogene 18|OFD1 pseudogene, Y-linked 18" 1998-10-01 2010-06-28 2018-04-30 2018-04-30 10751 ENSG00000235511 OTTHUMG00000045289 L18173 NG_009011 9722947 PGOHUM00000233877 HGNC:2589 HGNC:7056 OGA O-GlcNAcase protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "MEA5|NCOAT" nuclear cytoplasmic O-GlcNAcase and acetyltransferase MGEA5 meningioma expressed antigen 5 (hyaluronidase) Hexosaminidases 1642 1999-09-09 2018-04-09 2018-04-09 2023-01-20 10724 ENSG00000198408 OTTHUMG00000018939 uc001ktv.3 AF036144 NM_012215 "CCDS44471|CCDS7520" O60502 "9811929|16356930" MGI:1932139 RGD:621077 604039 objectId:3101 3.2.1.169 HGNC:7056 "ENST00000361464.8|NM_012215.5" -HGNC:8124 OGDH oxoglutarate dehydrogenase protein-coding gene gene with protein product Approved 7p13 07p13 "E1k|OGDC-E1|OGDH2|KGD1" oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) Oxoglutarate dehydrogenase family 1666 1989-06-30 2016-03-14 2023-01-20 4967 ENSG00000105953 OTTHUMG00000155304 uc003tln.4 D10523 NM_001003941 "CCDS55107|CCDS34627|CCDS87498|CCDS47580" Q02218 "8020988|1542694|24506869" MGI:1098267 RGD:1561359 613022 436832 1.2.4.2 HGNC:8124 "ENST00000222673.6|NM_002541.4" -HGNC:25590 OGDHL oxoglutarate dehydrogenase L protein-coding gene gene with protein product Approved 10q11.23 10q11.23 FLJ10851 oxoglutarate dehydrogenase like Oxoglutarate dehydrogenase family 1666 2004-05-27 2020-05-12 2023-01-20 55753 ENSG00000197444 OTTHUMG00000018200 uc001jie.4 AK001713 NM_018245 "CCDS7234|CCDS44391|CCDS44390" Q9ULD0 "10574462|18783430" MGI:3616088 RGD:1310916 617513 HGNC:25590 "ENST00000374103.9|NM_018245.3" +HGNC:8124 OGDH oxoglutarate dehydrogenase protein-coding gene gene with protein product Approved 7p13 07p13 "E1k|OGDC-E1|OGDH2|KGD1" oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) Oxoglutarate dehydrogenase family 1666 1989-06-30 2016-03-14 2023-01-20 4967 ENSG00000105953 OTTHUMG00000155304 uc003tln.4 D10523 NM_001003941 "CCDS34627|CCDS87498|CCDS47580|CCDS55107" Q02218 "8020988|1542694|24506869" MGI:1098267 RGD:1561359 613022 436832 1.2.4.2 HGNC:8124 "ENST00000222673.6|NM_002541.4" +HGNC:25590 OGDHL oxoglutarate dehydrogenase L protein-coding gene gene with protein product Approved 10q11.23 10q11.23 FLJ10851 oxoglutarate dehydrogenase like Oxoglutarate dehydrogenase family 1666 2004-05-27 2020-05-12 2023-01-20 55753 ENSG00000197444 OTTHUMG00000018200 uc001jie.4 AK001713 NM_018245 "CCDS44391|CCDS7234|CCDS44390" Q9ULD0 "10574462|18783430" MGI:3616088 RGD:1310916 617513 HGNC:25590 "ENST00000374103.9|NM_018245.3" HGNC:25585 OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 protein-coding gene gene with protein product Approved 16q13 16q13 "KIAA1612|FLJ10826|TPA1" TPA1, termination and polyadenylation 1, homolog (S. cerevisiae) 2-oxoglutarate and iron-dependent oxygenase domain containing 1 2006-02-14 2016-03-10 2023-01-20 55239 ENSG00000087263 OTTHUMG00000133237 uc002ejb.4 BC032919 NM_018233 CCDS10761 Q8N543 10997877 MGI:2442978 RGD:1308848 615857 HGNC:25585 "ENST00000566157.6|NM_018233.4" HGNC:39202 OGFOD1P1 2-oxoglutarate and iron dependent oxygenase domain containing 1 pseudogene 1 pseudogene pseudogene Approved 13q14.2 13q14.2 2-oxoglutarate and iron-dependent oxygenase domain containing 1 pseudogene 1 2010-11-23 2016-03-10 2016-03-10 387924 ENSG00000231665 OTTHUMG00000016910 NG_011397 PGOHUM00000248397 HGNC:39202 -HGNC:25823 OGFOD2 2-oxoglutarate and iron dependent oxygenase domain containing 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ13491|FLJ37501" 2-oxoglutarate and iron-dependent oxygenase domain containing 2 2006-02-14 2016-03-10 2023-01-20 79676 ENSG00000111325 OTTHUMG00000168778 uc001uea.2 AK094820 NM_024623 "CCDS76618|CCDS76617|CCDS41855" Q6N063 12477932 MGI:1913877 RGD:1310594 HGNC:25823 "ENST00000228922.12|NM_001304833.2" -HGNC:26174 OGFOD3 2-oxoglutarate and iron dependent oxygenase domain containing 3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ22222 C17orf101 "chromosome 17 open reading frame 101|2-oxoglutarate and iron-dependent oxygenase domain containing 3" 2008-11-27 2012-10-23 2016-03-10 2023-01-20 79701 ENSG00000181396 OTTHUMG00000178679 uc002keu.3 BC023602 NM_175902 "CCDS11812|CCDS11811" Q6PK18 12477932 MGI:1913429 RGD:1305007 HGNC:26174 "ENST00000313056.10|NM_024648.3" +HGNC:25823 OGFOD2 2-oxoglutarate and iron dependent oxygenase domain containing 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ13491|FLJ37501" 2-oxoglutarate and iron-dependent oxygenase domain containing 2 2006-02-14 2016-03-10 2023-01-20 79676 ENSG00000111325 OTTHUMG00000168778 uc001uea.2 AK094820 NM_024623 "CCDS76618|CCDS41855|CCDS76617" Q6N063 12477932 MGI:1913877 RGD:1310594 HGNC:25823 "ENST00000228922.12|NM_001304833.2" +HGNC:26174 OGFOD3 2-oxoglutarate and iron dependent oxygenase domain containing 3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ22222 C17orf101 "chromosome 17 open reading frame 101|2-oxoglutarate and iron-dependent oxygenase domain containing 3" 2008-11-27 2012-10-23 2016-03-10 2023-01-20 79701 ENSG00000181396 OTTHUMG00000178679 uc002keu.3 BC023602 NM_175902 "CCDS11811|CCDS11812" Q6PK18 12477932 MGI:1913429 RGD:1305007 HGNC:26174 "ENST00000313056.10|NM_024648.3" HGNC:15768 OGFR opioid growth factor receptor protein-coding gene gene with protein product Approved 20q13.33 20q13.33 7-60 2001-05-31 2023-01-20 11054 ENSG00000060491 OTTHUMG00000032937 uc002ydj.4 AF109134 NM_007346 CCDS13504 Q9NZT2 "10677613|26687326" MGI:1919325 RGD:69324 606459 HGNC:15768 "ENST00000290291.10|NM_007346.4" HGNC:40724 OGFR-AS1 OGFR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 OGFR antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2014-11-19 101409261 ENSG00000229873 OTTHUMG00000032933 uc031rum.2 "BQ187924|CA412981" NR_102430 OGFR-AS1 HGNC:40724 HGNC:21378 OGFRL1 opioid growth factor receptor like 1 protein-coding gene gene with protein product Approved 6q13 06q13 dJ331H24.1 2003-06-11 2016-07-01 2023-01-20 79627 ENSG00000119900 OTTHUMG00000015000 uc003pfx.2 NM_024576 CCDS34482 Q5TC84 MGI:1917405 RGD:1308498 HGNC:21378 "ENST00000370435.5|NM_024576.5" HGNC:50511 OGFRP1 opioid growth factor receptor pseudogene 1 pseudogene pseudogene Approved 22q13.2 22q13.2 2014-05-15 2018-10-10 388906 ENSG00000182057 OTTHUMG00000150700 NR_036498 30274775 PGOHUM00000246597 HGNC:50511 -HGNC:8125 OGG1 8-oxoguanine DNA glycosylase protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "HMMH|HOGG1|OGH1|MUTM" "8-hydroxyguanine DNA glycosylase|OGG1 type 1e|OGG1 type 1d|OGG1 type 1g|OGG1 type 1h" DNA glycosylases 1024 1997-07-22 2023-01-20 4968 ENSG00000114026 OTTHUMG00000097091 uc003bsj.4 U96710 NM_016821 "CCDS43046|CCDS46742|CCDS2580|CCDS2576|CCDS2578|CCDS2579|CCDS2581|CCDS2577" O15527 "9207108|10449904" MGI:1097693 RGD:621168 601982 objectId:3060 "3.2.2.-|4.2.99.18" HGNC:8125 "ENST00000344629.12|NM_002542.6" +HGNC:8125 OGG1 8-oxoguanine DNA glycosylase protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "HMMH|HOGG1|OGH1|MUTM" "8-hydroxyguanine DNA glycosylase|OGG1 type 1e|OGG1 type 1d|OGG1 type 1g|OGG1 type 1h" DNA glycosylases 1024 1997-07-22 2023-01-20 4968 ENSG00000114026 OTTHUMG00000097091 uc003bsj.4 U96710 NM_016821 "CCDS2580|CCDS2581|CCDS2578|CCDS2579|CCDS2577|CCDS46742|CCDS43046|CCDS2576" O15527 "9207108|10449904" MGI:1097693 RGD:621168 601982 objectId:3060 "3.2.2.-|4.2.99.18" HGNC:8125 "ENST00000344629.12|NM_002542.6" HGNC:8126 OGN osteoglycin protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "mimecan|OIF|SLRR3A" mimecan proteoglycan osteoglycin (osteoinductive factor) Small leucine rich repeat proteoglycans 573 1997-10-31 2007-02-16 2023-01-20 4969 ENSG00000106809 OTTHUMG00000020224 uc004asa.4 AI424992 NM_024416 CCDS6695 P20774 2372374 MGI:109278 RGD:1308171 602383 HGNC:8126 "ENST00000375561.10|NM_014057.5" HGNC:8127 OGT O-linked N-acetylglucosamine (GlcNAc) transferase protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "O-GLCNAC|HRNT1|MGC22921|FLJ23071|OGT1" UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) "O-linked N-acetylglucosaminyltransferases|Tetratricopeptide repeat domain containing|NSL histone acetyltransferase complex" "446|769|1482" 1998-12-03 2012-05-04 2023-03-15 8473 ENSG00000147162 OTTHUMG00000033316 uc004eaa.3 U77413 "NM_003605|NM_181672" "CCDS35502|CCDS14414" O15294 9083068 MGI:1339639 RGD:62060 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/OGT 300255 2.4.1.255 HGNC:8127 "ENST00000373719.8|NM_181672.3" HGNC:8127 HGNC:20300 OIP5 Opa interacting protein 5 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "MIS18B|hMIS18beta|CT86" "MIS18 kinetochore protein homolog B (S. pombe)|cancer/testis antigen 86" 2005-01-12 2023-01-20 11339 ENSG00000104147 OTTHUMG00000130251 uc001znp.3 AF025441 NM_007280 CCDS10074 O43482 "9466265|17199038" MGI:1917895 RGD:1564263 606020 HGNC:20300 "ENST00000220514.8|NM_007280.2" @@ -23480,21 +23482,21 @@ HGNC:28833 OLA1 Obg like ATPase 1 protein-coding gene gene with protein product HGNC:45274 OLA1P1 OLA1 pseudogene 1 pseudogene pseudogene Approved 22q13.2 22q13.2 Obg-like ATPase 1 pseudogene 1 2013-03-18 2019-02-18 2019-02-18 246785 ENSG00000213790 OTTHUMG00000151284 NG_001589 PGOHUM00000297547 HGNC:45274 HGNC:45277 OLA1P2 OLA1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 Obg-like ATPase 1 pseudogene 2 2013-03-18 2019-02-18 2019-02-18 106479059 ENSG00000213671 OTTHUMG00000059555 NG_044570 26898989 PGOHUM00000294329 HGNC:45277 HGNC:45278 OLA1P3 OLA1 pseudogene 3 pseudogene pseudogene Approved 12q13.2 12q13.2 Obg-like ATPase 1 pseudogene 3 2013-03-18 2019-02-18 2019-02-18 101060020 ENSG00000257966 OTTHUMG00000170206 PGOHUM00000239474 HGNC:45278 -HGNC:25625 OLAH oleoyl-ACP hydrolase protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ11106|SAST" "oleoyl-acyl-carrier-protein hydrolase|S-acyl fatty acid synthase thioesterase, medium chain" THEDC1 thioesterase domain containing 1 2004-05-27 2006-07-07 2006-07-07 2023-01-20 55301 ENSG00000152463 OTTHUMG00000017724 uc001inu.2 AK001844 NM_018324 "CCDS7106|CCDS31152" Q9NV23 MGI:2139018 RGD:621115 3.1.2.14 HGNC:25625 "ENST00000378228.8|NM_001039702.3" -HGNC:17187 OLFM1 olfactomedin 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NOE1|OlfA|AMY|NOELIN" "pancortin|noelin" 2001-12-12 2023-01-20 10439 ENSG00000130558 OTTHUMG00000020897 uc010nar.5 AF035301 NM_014279 "CCDS6987|CCDS6986|CCDS65184|CCDS65183" Q99784 9039501 MGI:1860437 RGD:620320 605366 HGNC:17187 "ENST00000371793.8|NM_001282611.2" -HGNC:17189 OLFM2 olfactomedin 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "OlfC|NOE2" noelin 2 2002-01-11 2023-01-20 93145 ENSG00000105088 OTTHUMG00000180390 uc002mmp.4 AF131839 NM_001304347 "CCDS77230|CCDS92509|CCDS12221" O95897 MGI:3045350 RGD:1309741 617492 HGNC:17189 "ENST00000264833.9|NM_058164.4" +HGNC:25625 OLAH oleoyl-ACP hydrolase protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ11106|SAST" "oleoyl-acyl-carrier-protein hydrolase|S-acyl fatty acid synthase thioesterase, medium chain" THEDC1 thioesterase domain containing 1 2004-05-27 2006-07-07 2006-07-07 2023-01-20 55301 ENSG00000152463 OTTHUMG00000017724 uc001inu.2 AK001844 NM_018324 "CCDS31152|CCDS7106" Q9NV23 MGI:2139018 RGD:621115 3.1.2.14 HGNC:25625 "ENST00000378228.8|NM_001039702.3" +HGNC:17187 OLFM1 olfactomedin 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NOE1|OlfA|AMY|NOELIN" "pancortin|noelin" 2001-12-12 2023-01-20 10439 ENSG00000130558 OTTHUMG00000020897 uc010nar.5 AF035301 NM_014279 "CCDS65183|CCDS65184|CCDS6987|CCDS6986" Q99784 9039501 MGI:1860437 RGD:620320 605366 HGNC:17187 "ENST00000371793.8|NM_001282611.2" +HGNC:17189 OLFM2 olfactomedin 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "OlfC|NOE2" noelin 2 2002-01-11 2023-01-20 93145 ENSG00000105088 OTTHUMG00000180390 uc002mmp.4 AF131839 NM_001304347 "CCDS12221|CCDS77230|CCDS92509" O95897 MGI:3045350 RGD:1309741 617492 HGNC:17189 "ENST00000264833.9|NM_058164.4" HGNC:17990 OLFM3 olfactomedin 3 protein-coding gene gene with protein product Approved 1p21.1 01p21.1 NOE3 optimedin 2002-01-11 2023-01-20 118427 ENSG00000118733 OTTHUMG00000010941 uc001dug.4 AF397392 NM_001288821 "CCDS72832|CCDS30781" Q96PB7 "12019210|16115881" MGI:2387329 RGD:628672 607567 HGNC:17990 "ENST00000370103.9|NM_058170.4" HGNC:17190 OLFM4 olfactomedin 4 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "OlfD|GW112|GC1" 2004-06-25 2023-01-20 10562 ENSG00000102837 OTTHUMG00000016981 uc001vhl.4 AY358567 NM_006418 CCDS9440 Q6UX06 MGI:2685142 RGD:1311708 614061 HGNC:17190 "ENST00000219022.3|NM_006418.5" HGNC:51927 OLFM5P olfactomedin family member 5, pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 2015-10-09 2015-10-09 101927763 ENSG00000224295 OTTHUMG00000066889 NR_133006 MGI:2443346 PGOHUM00000290375 HGNC:51927 HGNC:24473 OLFML1 olfactomedin like 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 UNQ564 olfactomedin-like 1 2004-06-25 2015-11-11 2023-01-20 283298 ENSG00000183801 OTTHUMG00000165527 uc001mfi.4 AY358591 NM_198474 CCDS7779 Q6UWY5 MGI:2679264 RGD:1311854 HGNC:24473 "ENST00000329293.4|NM_198474.4" -HGNC:27270 OLFML2A olfactomedin like 2A protein-coding gene gene with protein product Approved 9q33.3 09q33.3 FLJ00237 olfactomedin-like 2A 2004-04-29 2015-11-11 2023-01-20 169611 ENSG00000185585 OTTHUMG00000020663 uc004bov.5 AK092255 NM_182487 "CCDS6857|CCDS65129" Q68BL7 27821182 MGI:2444741 RGD:1311651 615899 HGNC:27270 "ENST00000373580.8|NM_182487.4" -HGNC:24558 OLFML2B olfactomedin like 2B protein-coding gene gene with protein product Approved 1q23.3 01q23.3 DKFZP586L151 olfactomedin-like 2B 2004-04-29 2015-11-11 2023-01-20 25903 ENSG00000162745 OTTHUMG00000024047 uc001gbu.3 BX648975 NM_015441 "CCDS1236|CCDS72966" Q68BL8 MGI:2443310 RGD:1309257 HGNC:24558 "ENST00000294794.8|NM_015441.3" -HGNC:24956 OLFML3 olfactomedin like 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "HNOEL-iso|OLF44" olfactomedin-like 3 2004-05-10 2015-11-11 2023-01-20 56944 ENSG00000116774 OTTHUMG00000011980 uc001eer.3 AF201945 NM_020190 "CCDS870|CCDS65618|CCDS72839" Q9NRN5 MGI:1914877 RGD:1311106 610088 HGNC:24956 "ENST00000320334.5|NM_020190.5" +HGNC:27270 OLFML2A olfactomedin like 2A protein-coding gene gene with protein product Approved 9q33.3 09q33.3 FLJ00237 olfactomedin-like 2A 2004-04-29 2015-11-11 2023-01-20 169611 ENSG00000185585 OTTHUMG00000020663 uc004bov.5 AK092255 NM_182487 "CCDS65129|CCDS6857" Q68BL7 27821182 MGI:2444741 RGD:1311651 615899 HGNC:27270 "ENST00000373580.8|NM_182487.4" +HGNC:24558 OLFML2B olfactomedin like 2B protein-coding gene gene with protein product Approved 1q23.3 01q23.3 DKFZP586L151 olfactomedin-like 2B 2004-04-29 2015-11-11 2023-01-20 25903 ENSG00000162745 OTTHUMG00000024047 uc001gbu.3 BX648975 NM_015441 "CCDS72966|CCDS1236" Q68BL8 MGI:2443310 RGD:1309257 HGNC:24558 "ENST00000294794.8|NM_015441.3" +HGNC:24956 OLFML3 olfactomedin like 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "HNOEL-iso|OLF44" olfactomedin-like 3 2004-05-10 2015-11-11 2023-01-20 56944 ENSG00000116774 OTTHUMG00000011980 uc001eer.3 AF201945 NM_020190 "CCDS870|CCDS72839|CCDS65618" Q9NRN5 MGI:1914877 RGD:1311106 610088 HGNC:24956 "ENST00000320334.5|NM_020190.5" HGNC:16983 OLIG1 oligodendrocyte transcription factor 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "BHLHB6|bHLHe21" "oligodendrocyte-specific bHLH transcription factor 1|oligodendrocyte lineage transcription factor 1|basic domain, helix-loop-helix protein, class B, 6" Basic helix-loop-helix proteins 420 2001-12-04 2023-01-20 116448 ENSG00000184221 OTTHUMG00000065064 uc002yqz.4 AP000109 NM_138983 CCDS42920 Q8TAK6 11526205 MGI:1355334 RGD:621129 606385 HGNC:16983 "ENST00000382348.2|NM_138983.3" HGNC:9398 OLIG2 oligodendrocyte transcription factor 2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "RACK17|OLIGO2|bHLHe19" "oligodendrocyte-specific bHLH transcription factor 2|protein kinase C binding protein 2|human protein kinase C-binding protein RACK17|basic domain, helix-loop-helix protein, class B, 1" "PRKCBP2|BHLHB1" "protein kinase C binding protein 2|oligodendrocyte lineage transcription factor 2" Basic helix-loop-helix proteins 420 1999-10-19 2001-12-07 2017-01-11 2023-01-20 10215 ENSG00000205927 OTTHUMG00000065032 uc002yqx.3 U48250 NM_005806 CCDS13620 Q13516 "11526205|23165259" MGI:1355331 RGD:1307098 OLIG2 606386 HGNC:9398 "ENST00000382357.4|NM_005806.4" HGNC:18003 OLIG3 oligodendrocyte transcription factor 3 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "Bhlhb7|bHLHe20" Basic helix-loop-helix proteins 420 2003-05-20 2023-01-20 167826 ENSG00000177468 OTTHUMG00000015657 uc003qhp.2 AK096362 NM_175747 CCDS5186 Q7RTU3 MGI:2149955 RGD:1305997 609323 HGNC:18003 "ENST00000367734.4|NM_175747.2" HGNC:28060 OLMALINC oligodendrocyte maturation-associated long intergenic non-coding RNA non-coding RNA RNA, long non-coding Approved 10q24.31 10q24.31 "bA34D15.5|FLJ12974|HI-LNC80" "Human Islet Long Non Coding RNA 80|oligodendrocyte maturation-associated long intervening non-coding RNA" "C10orf75|NCRNA00263|LINC00263" "chromosome 10 open reading frame 75|non-protein coding RNA 263|long intergenic non-protein coding RNA 263" Long non-coding RNAs with non-systematic symbols 1992 2004-02-17 2015-01-12 2015-01-12 2018-09-07 90271 ENSG00000235823 OTTHUMG00000018909 BC045787 NR_026762 "23040067|25575711|27980086" 616240 OLMALINC HGNC:28060 -HGNC:8133 OLR1 oxidized low density lipoprotein receptor 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "LOX-1|SCARE1|CLEC8A" oxidised low density lipoprotein (lectin-like) receptor 1 "Scavenger receptors|C-type lectin domain containing" "1253|1298" 1998-01-16 2016-03-10 2023-01-20 4973 ENSG00000173391 OTTHUMG00000168527 uc001qxo.2 D89050 NM_002543 "CCDS8618|CCDS53746|CCDS53745" P78380 9763655 MGI:1261434 RGD:620515 602601 HGNC:8133 "ENST00000309539.8|NM_002543.4" +HGNC:8133 OLR1 oxidized low density lipoprotein receptor 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "LOX-1|SCARE1|CLEC8A" oxidised low density lipoprotein (lectin-like) receptor 1 "Scavenger receptors|C-type lectin domain containing" "1253|1298" 1998-01-16 2016-03-10 2023-01-20 4973 ENSG00000173391 OTTHUMG00000168527 uc001qxo.2 D89050 NM_002543 "CCDS53746|CCDS53745|CCDS8618" P78380 9763655 MGI:1261434 RGD:620515 602601 HGNC:8133 "ENST00000309539.8|NM_002543.4" HGNC:29661 OMA1 OMA1 zinc metallopeptidase protein-coding gene gene with protein product Approved 1p32.2-p32.1 01p32.2-p32.1 "MPRP-1|YKR087C|ZMPOMA1|FLJ33782" "overlapping activity with M-AAA protease|zinc metallopeptidase OMA1" OMA1 zinc metallopeptidase homolog (S. cerevisiae) M48 metallopeptidase family 2105 2004-11-16 2013-05-03 2023-01-20 115209 ENSG00000162600 OTTHUMG00000010068 uc001cyy.4 AK091101 NM_145243 CCDS608 Q96E52 "12963738|20038677" MGI:1914263 RGD:1304821 617081 HGNC:29661 "ENST00000371226.8|NM_145243.5" HGNC:8134 OMD osteomodulin protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "osteoadherin|SLRR2C" osteoadherin proteoglycan Small leucine rich repeat proteoglycans 573 1997-11-11 2023-01-20 4958 ENSG00000127083 OTTHUMG00000020225 uc004asd.5 AB000114 NM_005014 CCDS6696 Q99983 MGI:1350918 RGD:621818 618926 HGNC:8134 "ENST00000375550.5|NM_005014.3" HGNC:8135 OMG oligodendrocyte myelin glycoprotein protein-coding gene gene with protein product Approved 17q11.2 17q11.2 OMGP 1991-06-05 2023-01-20 4974 ENSG00000126861 OTTHUMG00000132870 uc002hgj.4 NM_002544 CCDS11265 P23515 "1899288|2277079" MGI:106586 RGD:1359125 164345 HGNC:8135 "ENST00000247271.5|NM_002544.5" @@ -23515,8 +23517,8 @@ HGNC:53904 OOSP4A oocyte secreted protein family member 4A protein-coding gene g HGNC:53905 OOSP4B oocyte secreted protein family member 4B protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OOSP family 1631 2018-05-18 2018-05-18 107987155 ENSG00000255393 OTTHUMG00000167378 NM_001395278 A0A2R8Y4Y8 HGNC:53905 HGNC:8140 OPA1 OPA1 mitochondrial dynamin like GTPase protein-coding gene gene with protein product Approved 3q29 03q29 "NTG|KIAA0567|FLJ12460|NPG|MGM1" "mitochondrial dynamin-like GTPase|dynamin-like guanosine triphosphatase|Dynamin-like 120 kDa protein, mitochondrial" "optic atrophy 1 (autosomal dominant)|OPA1, mitochondrial dynamin like GTPase" 1987-09-11 2019-01-25 2023-03-15 4976 ENSG00000198836 OTTHUMG00000149897 uc003fti.3 AB011139 NM_130837 "CCDS33917|CCDS87183|CCDS43186" O60313 9490303 MGI:1921393 RGD:708423 "Mutations of the Optic Atrophy 1 Gene|http://www.retina-international.org/files/sci-news/opa1mut.htm|LRG_337|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_337.xml" 605290 123996 HGNC:8140 "ENST00000361510.8|NM_130837.3" HGNC:8140 HGNC:40421 OPA1-AS1 OPA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 OPA1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 100873941 ENSG00000224855 OTTHUMG00000156072 uc031scv.2 NR_046634 OPA1-AS1 HGNC:40421 -HGNC:8142 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "FLJ22187|MGA3" 3-methylglutaconic aciduria type III "optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)|OPA3, outer mitochondrial membrane lipid metabolism regulator" 1999-03-12 2019-04-08 2023-01-20 80207 ENSG00000125741 OTTHUMG00000182125 uc002pck.5 AK025840 NM_001017989 "CCDS33052|CCDS12668" Q9H6K4 "9097959|11668429" MGI:2686271 RGD:1309147 606580 124003 HGNC:8142 "ENST00000263275.5|NM_025136.4" HGNC:8142 -HGNC:20707 OPALIN oligodendrocytic myelin paranodal and inner loop protein protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "TMP10|HTMP10" TMEM10 transmembrane protein 10 2003-05-07 2008-05-01 2008-05-01 2023-01-20 93377 ENSG00000197430 OTTHUMG00000018831 uc001kmj.5 AF367761 NM_033207 "CCDS7448|CCDS73173|CCDS44466|CCDS60602|CCDS41556|CCDS73172" Q96PE5 "11814680|17442045" MGI:2657025 RGD:1307776 617200 HGNC:20707 "ENST00000371172.8|NM_033207.5" +HGNC:8142 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "FLJ22187|MGA3" 3-methylglutaconic aciduria type III "optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)|OPA3, outer mitochondrial membrane lipid metabolism regulator" 1999-03-12 2019-04-08 2023-01-20 80207 ENSG00000125741 OTTHUMG00000182125 uc002pck.5 AK025840 NM_001017989 "CCDS12668|CCDS33052" Q9H6K4 "9097959|11668429" MGI:2686271 RGD:1309147 606580 124003 HGNC:8142 "ENST00000263275.5|NM_025136.4" HGNC:8142 +HGNC:20707 OPALIN oligodendrocytic myelin paranodal and inner loop protein protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "TMP10|HTMP10" TMEM10 transmembrane protein 10 2003-05-07 2008-05-01 2008-05-01 2023-01-20 93377 ENSG00000197430 OTTHUMG00000018831 uc001kmj.5 AF367761 NM_033207 "CCDS41556|CCDS7448|CCDS73172|CCDS60602|CCDS73173|CCDS44466" Q96PE5 "11814680|17442045" MGI:2657025 RGD:1307776 617200 HGNC:20707 "ENST00000371172.8|NM_033207.5" HGNC:8143 OPCML opioid binding protein/cell adhesion molecule like protein-coding gene gene with protein product Approved 11q25 11q25 "OPCM|OBCAM|IGLON1" IgLON family member 1 "I-set domain containing|IgLON cell adhesion molecules" "593|1052" 1993-12-13 2016-06-17 2023-01-20 4978 ENSG00000183715 OTTHUMG00000163658 uc001qgs.4 BX537377 NM_001012393 "CCDS31722|CCDS8492|CCDS81649" Q14982 8244387 MGI:97397 RGD:620635 600632 HGNC:8143 "ENST00000524381.6|NM_001012393.5" HGNC:41366 OPCML-IT1 OPCML intronic transcript 1 non-coding RNA RNA, long non-coding Approved 11q25 11q25 OPCML intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874333 ENSG00000254896 OTTHUMG00000167118 uc058jfz.1 NR_046790 OPCML-IT1 HGNC:41365 OPCML-IT2 OPCML intronic transcript 2 non-coding RNA RNA, long non-coding Approved 11q25 11q25 OPCML intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874332 ENSG00000255371 OTTHUMG00000167116 uc058jfw.1 OPCML-IT2 @@ -23527,14 +23529,14 @@ HGNC:4206 OPN1MW opsin 1, medium wave sensitive protein-coding gene gene with pr HGNC:26952 OPN1MW2 opsin 1, medium wave sensitive 2 protein-coding gene gene with protein product Approved Xq28 Xq28 opsin 1 (cone pigments), medium-wave-sensitive 2 Opsin receptors 215 2005-09-20 2017-01-17 2023-01-20 728458 ENSG00000166160 OTTHUMG00000024231 uc004fkd.4 NM_001048181 CCDS35447 P0DN77 MGI:1097692 HGNC:26952 "ENST00000369929.8|NM_001048181.3" HGNC:51831 OPN1MW3 opsin 1, medium wave sensitive 3 protein-coding gene gene with protein product Approved Xq28 Xq28 opsin 1 (cone pigments), medium-wave-sensitive 3 Opsin receptors 215 2015-07-24 2017-01-17 2023-01-20 101060233 ENSG00000269433 OTTHUMG00000189499 NM_001330067 CCDS83509 P0DN78 MGI:1097692 HGNC:51831 "ENST00000599405.4|NM_001330067.2" HGNC:1012 OPN1SW opsin 1, short wave sensitive protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "BOP|CBT" "color blindness, tritan|blue-sensitive opsin" BCP "blue cone photoreceptor pigment|opsin 1 (cone pigments), short-wave-sensitive" Opsin receptors 215 2001-06-22 2017-01-17 2023-01-20 611 ENSG00000128617 OTTHUMG00000158311 uc003vnt.5 U53874 NM_001708 CCDS5806 P03999 "2937147|8270261" MGI:99438 RGD:621033 Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)|http://www.retina-international.org/files/sci-news/cppmut.htm 613522 124018 objectId:2960 HGNC:1012 "ENST00000249389.3|NM_001385125.1" HGNC:1012 -HGNC:14007 OPN3 opsin 3 protein-coding gene gene with protein product Approved 1q43 01q43 "ERO|NMO-1|encephalopsin|PPP1R116" "panopsin|protein phosphatase 1, regulatory subunit 116" ECPN encephalopsin "Opsin receptors|Protein phosphatase 1 regulatory subunits" "215|694" 2000-11-24 2008-04-16 2023-01-20 23596 ENSG00000054277 OTTHUMG00000039691 uc001hza.4 AF140242 NM_014322 "CCDS31072|CCDS91184|CCDS91183" Q9H1Y3 "10234000|11401433" MGI:1338022 RGD:1594385 606695 objectId:160 HGNC:14007 "ENST00000366554.3|NM_014322.3" -HGNC:14449 OPN4 opsin 4 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "MOP|melanopsin" melanopsin opsin 4 (melanopsin) Opsin receptors 215 2001-08-07 2008-04-16 2023-01-20 94233 ENSG00000122375 OTTHUMG00000018654 uc001kdq.4 AF147788 NM_033282 "CCDS7376|CCDS31237" Q9UHM6 10632589 MGI:1353425 RGD:621701 606665 objectId:2758 HGNC:14449 "ENST00000241891.10|NM_033282.4" +HGNC:14007 OPN3 opsin 3 protein-coding gene gene with protein product Approved 1q43 01q43 "ERO|NMO-1|encephalopsin|PPP1R116" "panopsin|protein phosphatase 1, regulatory subunit 116" ECPN encephalopsin "Opsin receptors|Protein phosphatase 1 regulatory subunits" "215|694" 2000-11-24 2008-04-16 2023-01-20 23596 ENSG00000054277 OTTHUMG00000039691 uc001hza.4 AF140242 NM_014322 "CCDS91183|CCDS31072|CCDS91184" Q9H1Y3 "10234000|11401433" MGI:1338022 RGD:1594385 606695 objectId:160 HGNC:14007 "ENST00000366554.3|NM_014322.3" +HGNC:14449 OPN4 opsin 4 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "MOP|melanopsin" melanopsin opsin 4 (melanopsin) Opsin receptors 215 2001-08-07 2008-04-16 2023-01-20 94233 ENSG00000122375 OTTHUMG00000018654 uc001kdq.4 AF147788 NM_033282 "CCDS31237|CCDS7376" Q9UHM6 10632589 MGI:1353425 RGD:621701 606665 objectId:2758 HGNC:14449 "ENST00000241891.10|NM_033282.4" HGNC:19992 OPN5 opsin 5 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "neuropsin|dJ402H5.1" neuropsin TMEM13 transmembrane protein 13 Opsin receptors 215 2003-11-26 2004-01-23 2023-03-15 221391 ENSG00000124818 OTTHUMG00000014803 uc003ozc.4 AY288419 NM_181744 CCDS4923 Q6U736 "14623103|14623098" MGI:2662912 RGD:727869 609042 objectId:161 HGNC:19992 "ENST00000371211.7|NM_181744.4" HGNC:8153 OPRD1 opioid receptor delta 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 opioid receptor, delta 1 Opioid receptors 245 1993-03-11 2016-03-31 2023-01-20 4985 ENSG00000116329 OTTHUMG00000003646 uc001brf.2 U10504 NM_000911 CCDS329 P41143 8415697 MGI:97438 RGD:3233 165195 objectId:317 HGNC:8153 "ENST00000234961.7|NM_000911.4" -HGNC:8154 OPRK1 opioid receptor kappa 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "KOR|OPRK" opioid receptor, kappa 1 Opioid receptors 245 1993-03-11 2016-03-31 2023-01-20 4986 ENSG00000082556 OTTHUMG00000164276 uc003xri.3 NM_000912 "CCDS64895|CCDS94292|CCDS6152" P41145 8188308 MGI:97439 RGD:69426 165196 objectId:318 HGNC:8154 "ENST00000265572.8|NM_000912.5" -HGNC:8155 OPRL1 opioid related nociceptin receptor 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "NOCIR|ORL1|OOR|KOR-3|NOPr|PNOCR" "LC132 receptor-like|orphanin FQ receptor|kappa3-related opioid receptor|nociceptin/orphanin FQ receptor" opiate receptor-like 1 Opioid receptors 245 1996-05-28 2016-03-31 2023-01-20 4987 ENSG00000125510 OTTHUMG00000033027 uc002yic.4 NM_182647 "CCDS13556|CCDS93075" P41146 "8137918|17910740" MGI:97440 RGD:68438 602548 objectId:320 HGNC:8155 "ENST00000336866.7|NM_182647.4" -HGNC:8156 OPRM1 opioid receptor mu 1 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "MOR1|MOP" "Mu opiate receptor|Mu opioid receptor" opioid receptor, mu 1 Opioid receptors 245 1993-03-11 2016-03-31 2023-01-20 4988 ENSG00000112038 OTTHUMG00000015870 uc063skb.1 L29301 NM_000914 "CCDS55069|CCDS47503|CCDS47505|CCDS47506|CCDS47507|CCDS47508|CCDS43517|CCDS43518|CCDS55071|CCDS55070|CCDS55068|CCDS47504" P35372 9756053 MGI:97441 RGD:3234 LRG_1007|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1007.xml 600018 objectId:319 HGNC:8156 "ENST00000330432.12|NM_000914.5" -HGNC:17279 OPRPN opiorphin prepropeptide protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "BPLP|PRL1" PROL1 "proline rich 1|proline rich, lacrimal 1" 2001-12-04 2016-03-08 2016-03-08 2023-01-20 58503 ENSG00000171199 OTTHUMG00000160845 uc003hfi.4 S83198 NM_021225 CCDS43235 Q99935 "8670737|17101991" RGD:620983 608936 HGNC:17279 "ENST00000399575.7|NM_021225.5" +HGNC:8154 OPRK1 opioid receptor kappa 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "KOR|OPRK" opioid receptor, kappa 1 Opioid receptors 245 1993-03-11 2016-03-31 2023-01-20 4986 ENSG00000082556 OTTHUMG00000164276 uc003xri.3 NM_000912 "CCDS94292|CCDS64895|CCDS6152" P41145 8188308 MGI:97439 RGD:69426 165196 objectId:318 HGNC:8154 "ENST00000265572.8|NM_000912.5" +HGNC:8155 OPRL1 opioid related nociceptin receptor 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "NOCIR|ORL1|OOR|KOR-3|NOPr|PNOCR" "LC132 receptor-like|orphanin FQ receptor|kappa3-related opioid receptor|nociceptin/orphanin FQ receptor" opiate receptor-like 1 Opioid receptors 245 1996-05-28 2016-03-31 2023-01-20 4987 ENSG00000125510 OTTHUMG00000033027 uc002yic.4 NM_182647 "CCDS93075|CCDS13556" P41146 "8137918|17910740" MGI:97440 RGD:68438 602548 objectId:320 HGNC:8155 "ENST00000336866.7|NM_182647.4" +HGNC:8156 OPRM1 opioid receptor mu 1 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "MOR1|MOP" "Mu opiate receptor|Mu opioid receptor" opioid receptor, mu 1 Opioid receptors 245 1993-03-11 2016-03-31 2023-01-20 4988 ENSG00000112038 OTTHUMG00000015870 uc063skb.1 L29301 NM_000914 "CCDS55070|CCDS55069|CCDS43517|CCDS43518|CCDS47507|CCDS47503|CCDS47508|CCDS47504|CCDS55068|CCDS47505|CCDS55071|CCDS47506" P35372 9756053 MGI:97441 RGD:3234 LRG_1007|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1007.xml 600018 objectId:319 HGNC:8156 "ENST00000330432.12|NM_000914.5" +HGNC:17279 OPRPN opiorphin prepropeptide protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "BPLP|PRL1" PROL1 "proline rich 1|proline rich, lacrimal 1" Secretory calcium-binding phosphoprotein family 2245 2001-12-04 2016-03-08 2016-03-08 2023-01-20 58503 ENSG00000171199 OTTHUMG00000160845 uc003hfi.4 S83198 NM_021225 CCDS43235 Q99935 "8670737|17101991" RGD:620983 608936 HGNC:17279 "ENST00000399575.7|NM_021225.5" HGNC:8158 OPTC opticin protein-coding gene gene with protein product Approved 1q32.1 01q32.1 oculoglycan 2000-02-16 2023-01-20 26254 ENSG00000188770 OTTHUMG00000036100 uc001gzu.2 AF161702 NM_014359 CCDS1439 Q9UBM4 10636917 MGI:2151113 RGD:1304916 605127 HGNC:8158 "ENST00000367222.7|NM_014359.4" HGNC:17142 OPTN optineurin protein-coding gene gene with protein product Approved 10p13 10p13 "FIP2|HYPL|FIP-2|TFIIIA-INTP|NRP|HIP7" GLC1E glaucoma 1, open angle, E (adult-onset) 2001-11-16 2003-09-08 2023-01-20 10133 ENSG00000123240 OTTHUMG00000017690 uc001ilx.2 AF420371 NM_021980 CCDS7094 Q96CV9 "11834836|9488477" MGI:1918898 RGD:628886 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602432 124021 HGNC:17142 "ENST00000378747.8|NM_001008212.2" HGNC:17142 HGNC:8179 OR1A1 olfactory receptor family 1 subfamily A member 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OR17-7 "olfactory receptor, family 1, subfamily A, member 1|olfactory receptor family 1 subfamily A member 1 (gene/pseudogene)" Olfactory receptors, family 1 147 1998-09-14 2020-05-01 2023-01-20 8383 ENSG00000172146 OTTHUMG00000090637 uc010vrc.2 AF087918 NM_014565 CCDS11022 Q9P1Q5 10673334 "MGI:1333770|MGI:3030237" RGD:1332685 618046 OR1A1 HGNC:8179 "ENST00000641732.2|NM_014565.3" @@ -23626,7 +23628,7 @@ HGNC:15005 OR2C3 olfactory receptor family 2 subfamily C member 3 protein-coding HGNC:8244 OR2D2 olfactory receptor family 2 subfamily D member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "OR11-610|hg27" OR2D1 olfactory receptor, family 2, subfamily D, member 2 Olfactory receptors, family 2 149 1998-11-09 2015-12-09 2023-01-20 120776 ENSG00000166368 OTTHUMG00000165741 uc010rau.3 AB065824 NM_003700 CCDS31416 Q9H210 9787077 MGI:3030549 RGD:1333500 608494 OR2D2 HGNC:8244 "ENST00000299459.3|NM_003700.1" HGNC:15146 OR2D3 olfactory receptor family 2 subfamily D member 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 2, subfamily D, member 3 Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2023-01-20 120775 ENSG00000178358 OTTHUMG00000165742 uc010rav.3 BK004294 NM_001004684 CCDS31417 Q8NGH3 "MGI:3030541|MGI:3030543|MGI:3031366" RGD:1333621 OR2D3 HGNC:15146 "ENST00000317834.5|NM_001004684.1" HGNC:15507 OR2E1P olfactory receptor family 2 subfamily E member 1 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "hs6M1-9|hs6M1-9p|HS29K1|HSNH0569I24" "OR2E1|OR2E2" olfactory receptor, family 2, subfamily E, member 1 pseudogene Olfactory receptors, family 2 149 2001-04-06 2015-12-09 2017-10-30 26719 ENSG00000219262 OTTHUMG00000014523 AC005678 NG_004088 PGOHUM00000301291 OR2E1P HGNC:15507 -HGNC:8246 OR2F1 olfactory receptor family 2 subfamily F member 1 protein-coding gene gene with protein product Approved 7q35 07q35 "OLF3|OR7-140|OR7-139|OR14-60" "OR2F4|OR2F5|OR2F3|OR2F3P" "olfactory receptor, family 2, subfamily F, member 1|olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)|olfactory receptor family 2 subfamily F member 1 (gene/pseudogene)" Olfactory receptors, family 2 149 1999-11-17 2020-05-01 2023-03-15 26211 ENSG00000213215 OTTHUMG00000157771 uc003wds.1 U56421 NM_012369 Q13607 9500546 "MGI:1313140|MGI:3030287" RGD:1333677 608497 OR2F1 HGNC:8246 "ENST00000641412.1|NM_012369.3" +HGNC:8246 OR2F1 olfactory receptor family 2 subfamily F member 1 protein-coding gene gene with protein product Approved 7q35 07q35 "OLF3|OR7-140|OR7-139|OR14-60" "OR2F4|OR2F5|OR2F3|OR2F3P" "olfactory receptor, family 2, subfamily F, member 1|olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)|olfactory receptor family 2 subfamily F member 1 (gene/pseudogene)" Olfactory receptors, family 2 149 1999-11-17 2020-05-01 2023-03-15 26211 ENSG00000213215 OTTHUMG00000157771 uc003wds.1 U56421 NM_012369 Q13607 9500546 "MGI:1313140|MGI:3030287" 608497 OR2F1 HGNC:8246 "ENST00000641412.1|NM_012369.3" HGNC:8247 OR2F2 olfactory receptor family 2 subfamily F member 2 protein-coding gene gene with protein product Approved 7q35 07q35 OR7-1 olfactory receptor, family 2, subfamily F, member 2 Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2023-01-20 135948 ENSG00000221910 OTTHUMG00000157768 uc011ktv.3 NM_001004685 CCDS43666 O95006 MGI:3030286 RGD:1333950 OR2F2 HGNC:8247 "ENST00000408955.3|NM_001004685.1" HGNC:8251 OR2G1P olfactory receptor family 2 subfamily G member 1 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "OST619|hs6M1-25" olfactory receptor, family 2, subfamily G, member 1 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2017-10-30 26717 ENSG00000213911 OTTHUMG00000031115 NG_004689 PGOHUM00000301300 OR2G1P HGNC:8251 HGNC:15007 OR2G2 olfactory receptor family 2 subfamily G member 2 protein-coding gene gene with protein product Approved 1q44 01q44 "olfactory receptor, family 2, subfamily G, member 2 pseudogene|olfactory receptor, family 2, subfamily G, member 2" Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2023-01-20 81470 ENSG00000177489 OTTHUMG00000040575 uc010pyy.2 BK004472 NM_001001915 CCDS31092 Q8NGZ5 RGD:1333100 OR2G2 HGNC:15007 "ENST00000320065.1|NM_001001915.1" @@ -24379,7 +24381,7 @@ HGNC:15221 OR52I2 olfactory receptor family 52 subfamily I member 2 protein-codi HGNC:14760 OR52J1P olfactory receptor family 52 subfamily J member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily J, member 1 pseudogene Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2015-12-09 79302 ENSG00000203560 OTTHUMG00000066601 NG_002234 PGOHUM00000242574 OR52J1P HGNC:14760 HGNC:14797 OR52J2P olfactory receptor family 52 subfamily J member 2 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OR52J4P olfactory receptor, family 52, subfamily J, member 2 pseudogene Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2015-12-09 79529 ENSG00000230261 OTTHUMG00000066606 NG_002266 PGOHUM00000242571 OR52J2P HGNC:14797 HGNC:14799 OR52J3 olfactory receptor family 52 subfamily J member 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily J, member 3 Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2023-01-20 119679 ENSG00000205495 OTTHUMG00000066600 uc010qyv.2 AB065530 NM_001001916 CCDS31370 Q8NH60 MGI:3030426 RGD:1333934 OR52J3 HGNC:14799 "ENST00000380370.1|NM_001001916.2" -HGNC:15222 OR52K1 olfactory receptor family 52 subfamily K member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily K, member 1 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2023-01-20 390036 ENSG00000196778 OTTHUMG00000165705 uc001lza.2 AB065790 NM_001005171 "CCDS91422|CCDS31352" Q8NGK4 MGI:3030386 RGD:1333293 OR52K1 HGNC:15222 "ENST00000641528.1|NM_001005171.3" +HGNC:15222 OR52K1 olfactory receptor family 52 subfamily K member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily K, member 1 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2023-01-20 390036 ENSG00000196778 OTTHUMG00000165705 uc001lza.2 AB065790 NM_001005171 "CCDS31352|CCDS91422" Q8NGK4 MGI:3030386 RGD:1333293 OR52K1 HGNC:15222 "ENST00000641528.1|NM_001005171.3" HGNC:15223 OR52K2 olfactory receptor family 52 subfamily K member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily K, member 2 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2023-01-20 119774 ENSG00000181963 OTTHUMG00000165703 uc001lyz.2 AB065791 NM_001005172 CCDS31351 Q8NGK3 MGI:3030386 RGD:1333028 OR52K2 HGNC:15223 "ENST00000325719.4|NM_001005172.2" HGNC:15224 OR52K3P olfactory receptor family 52 subfamily K member 3 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily K, member 3 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 390035 ENSG00000225101 OTTHUMG00000165704 AF143328 NG_004319 PGOHUM00000242565 OR52K3P HGNC:15224 HGNC:14785 OR52L1 olfactory receptor family 52 subfamily L member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "olfactory receptor, family 52, subfamily L, member 1|olfactory receptor family 52 subfamily L member 1 (gene/pseudogene)" Olfactory receptors, family 52 165 2001-02-28 2020-05-01 2023-01-20 338751 ENSG00000183313 OTTHUMG00000165374 uc001mcd.2 AB065819 NM_001005173 CCDS44529 Q8NGH7 MGI:3030519 RGD:1334283 OR52L1 HGNC:14785 "ENST00000332249.4|NM_001005173.3" @@ -24419,8 +24421,8 @@ HGNC:28185 ORAI3 ORAI calcium release-activated calcium modulator 3 protein-codi HGNC:8487 ORC1 origin recognition complex subunit 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "HSORC1|PARC1" "origin recognition complex, subunit 1, S. cerevisiae, homolog-like|origin recognition complex 1|replication control protein 1" ORC1L "origin recognition complex, subunit 1 (yeast homolog)-like|origin recognition complex, subunit 1-like (yeast)|origin recognition complex, subunit 1 homolog (S. cerevisiae)|origin recognition complex, subunit 1" "AAA ATPases|Origin recognition complex " "413|960" 1997-06-24 2010-10-12 2015-11-12 2023-01-20 4998 ENSG00000085840 OTTHUMG00000008104 uc001ctt.4 NM_004153 CCDS566 Q13415 8884289 MGI:1328337 RGD:631435 601902 260588 HGNC:8487 "ENST00000371568.8|NM_004153.4" HGNC:8487 HGNC:54921 ORC1P1 ORC1 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-04-24 340569 ENSG00000224589 NG_002790 HGNC:8488 ORC2 origin recognition complex subunit 2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 ORC2L "origin recognition complex, subunit 2 (yeast homolog)-like|origin recognition complex, subunit 2-like (yeast)|origin recognition complex, subunit 2 homolog (yeast)|origin recognition complex, subunit 2" Origin recognition complex 960 1995-09-28 2010-10-12 2015-11-12 2023-01-20 4999 ENSG00000115942 OTTHUMG00000132783 uc002uwr.4 NM_006190 CCDS2334 Q13416 8808289 MGI:1328306 RGD:1311844 601182 HGNC:8488 "ENST00000234296.7|NM_006190.5" -HGNC:8489 ORC3 origin recognition complex subunit 3 protein-coding gene gene with protein product Approved 6q15 06q15 "IMAGE50150|LATHEO" ORC3L "origin recognition complex, subunit 3 (yeast homolog)-like|origin recognition complex, subunit 3-like (yeast)|origin recognition complex, subunit 3 honolog (yeast)|origin recognition complex, subunit 3" Origin recognition complex 960 1999-11-16 2010-10-12 2015-11-12 2023-01-20 23595 ENSG00000135336 OTTHUMG00000015179 uc003pmg.4 AF093535 NM_001197259 "CCDS56440|CCDS43486|CCDS5012" Q9UBD5 "9829972|10402192" MGI:1354944 RGD:1308457 604972 HGNC:8489 "ENST00000392844.8|NM_012381.4" -HGNC:8490 ORC4 origin recognition complex subunit 4 protein-coding gene gene with protein product Approved 2q23.1 02q23.1 "HsORC4|Orc4p" ORC4L "origin recognition complex, subunit 4 (yeast homolog)-like|origin recognition complex, subunit 4-like (yeast)|origin recognition complex, subunit 4-like (S. cerevisiae)|origin recognition complex, subunit 4 homolog (S. cerevisiae)|origin recognition complex, subunit 4" "AAA ATPases|Origin recognition complex " "413|960" 1998-08-26 2010-10-12 2015-11-12 2023-01-20 5000 ENSG00000115947 OTTHUMG00000131849 uc002twk.3 AF022108 NM_181742 "CCDS54405|CCDS54404|CCDS2187" O43929 "9353276|9691185" MGI:1347043 RGD:735212 603056 260335 HGNC:8490 "ENST00000392857.10|NM_181741.4" HGNC:8490 +HGNC:8489 ORC3 origin recognition complex subunit 3 protein-coding gene gene with protein product Approved 6q15 06q15 "IMAGE50150|LATHEO" ORC3L "origin recognition complex, subunit 3 (yeast homolog)-like|origin recognition complex, subunit 3-like (yeast)|origin recognition complex, subunit 3 honolog (yeast)|origin recognition complex, subunit 3" Origin recognition complex 960 1999-11-16 2010-10-12 2015-11-12 2023-01-20 23595 ENSG00000135336 OTTHUMG00000015179 uc003pmg.4 AF093535 NM_001197259 "CCDS5012|CCDS43486|CCDS56440" Q9UBD5 "9829972|10402192" MGI:1354944 RGD:1308457 604972 HGNC:8489 "ENST00000392844.8|NM_012381.4" +HGNC:8490 ORC4 origin recognition complex subunit 4 protein-coding gene gene with protein product Approved 2q23.1 02q23.1 "HsORC4|Orc4p" ORC4L "origin recognition complex, subunit 4 (yeast homolog)-like|origin recognition complex, subunit 4-like (yeast)|origin recognition complex, subunit 4-like (S. cerevisiae)|origin recognition complex, subunit 4 homolog (S. cerevisiae)|origin recognition complex, subunit 4" "AAA ATPases|Origin recognition complex " "413|960" 1998-08-26 2010-10-12 2015-11-12 2023-01-20 5000 ENSG00000115947 OTTHUMG00000131849 uc002twk.3 AF022108 NM_181742 "CCDS54404|CCDS54405|CCDS2187" O43929 "9353276|9691185" MGI:1347043 RGD:735212 603056 260335 HGNC:8490 "ENST00000392857.10|NM_181741.4" HGNC:8490 HGNC:8491 ORC5 origin recognition complex subunit 5 protein-coding gene gene with protein product Approved 7q22.1-q22.2 07q22.1-q22.2 "Orc5p|ORC5T|PPP1R117" protein phosphatase 1, regulatory subunit 117 ORC5L "origin recognition complex, subunit 5 (yeast homolog)-like|origin recognition complex, subunit 5-like (yeast)|origin recognition complex, subunit 5 homolog (yeast)|origin recognition complex, subunit 5" "Protein phosphatase 1 regulatory subunits|Origin recognition complex " "694|960" 1998-02-11 2010-10-12 2015-11-12 2023-01-20 5001 ENSG00000164815 OTTHUMG00000157275 uc003vcb.3 NM_002553 "CCDS5734|CCDS47681" O43913 "9417919|9829972" MGI:1347044 RGD:1561088 602331 HGNC:8491 "ENST00000297431.9|NM_002553.4" HGNC:17151 ORC6 origin recognition complex subunit 6 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 ORC6L "origin recognition complex, subunit 6 homolog-like (yeast)|origin recognition complex, subunit 6 like (yeast)|origin recognition complex, subunit 6" Origin recognition complex 960 2002-02-14 2010-10-12 2015-11-12 2023-01-20 23594 ENSG00000091651 OTTHUMG00000132539 uc002eeh.3 AF139658 NM_014321 CCDS10722 Q9Y5N6 10945994 MGI:1929285 RGD:1311437 607213 260339 HGNC:17151 "ENST00000219097.7|NM_014321.4" HGNC:17151 HGNC:8498 ORM1 orosomucoid 1 protein-coding gene gene with protein product Approved 9q32 09q32 A1AG1 Alpha-1-acid glycoprotein 1 Lipocalins 631 2001-06-22 2023-03-08 5004 ENSG00000229314 OTTHUMG00000021012 uc004bik.5 NM_000607 CCDS6803 P02763 "MGI:97443|MGI:97444|MGI:97445" RGD:67390 138600 HGNC:8498 "ENST00000259396.9|NM_000607.4" @@ -24429,17 +24431,17 @@ HGNC:16036 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 protein-coding gen HGNC:56506 ORMDL1P1 ORMDL1 pseudogene 1 pseudogene pseudogene Approved 10p14 10p14 2022-10-25 2022-10-25 124902374 ENSG00000228997 PGOHUM00000289740 HGNC:16037 ORMDL2 ORMDL sphingolipid biosynthesis regulator 2 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "HSPC160|adoplin-2|MST095|MSTP095" "ORM1 (S. cerevisiae)-like 2|ORM1-like 2 (S. cerevisiae)" 2001-07-27 2014-06-16 2023-01-20 29095 ENSG00000123353 OTTHUMG00000170202 uc001shw.2 AF395707 NM_014182 CCDS8893 Q53FV1 "12093374|23066021" MGI:1914094 RGD:1305642 610074 HGNC:16037 "ENST00000243045.10|NM_014182.5" HGNC:16038 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "ORM1 (S. cerevisiae)-like 3|ORM1-like 3 (S. cerevisiae)" 2001-07-27 2014-06-16 2023-01-20 94103 ENSG00000172057 OTTHUMG00000133249 uc002htk.3 NM_139280 CCDS11355 Q8N138 23066021 MGI:1913862 RGD:1560577 610075 HGNC:16038 "ENST00000304046.7|NM_139280.4" -HGNC:16994 OS9 OS9 endoplasmic reticulum lectin protein-coding gene gene with protein product Approved 12q13.3-q14.1 12q13.3-q14.1 "OS-9|ERLEC2" "endoplasmic reticulum lectin 2|erlectin 2" osteosarcoma amplified 9, endoplasmic reticulum lectin MRH domain containing 1233 2009-02-27 2019-01-21 2023-01-20 10956 ENSG00000135506 OTTHUMG00000170284 uc001spj.4 AB002806 NM_006812 "CCDS31845|CCDS58247|CCDS31846|CCDS31843|CCDS58246|CCDS58249|CCDS58248|CCDS91712|CCDS91714|CCDS31844|CCDS91713" Q13438 "8634085|9498564|19346256|18264092|26721884" MGI:1924301 RGD:1359574 609677 HGNC:16994 "ENST00000315970.12|NM_006812.4" +HGNC:16994 OS9 OS9 endoplasmic reticulum lectin protein-coding gene gene with protein product Approved 12q13.3-q14.1 12q13.3-q14.1 "OS-9|ERLEC2" "endoplasmic reticulum lectin 2|erlectin 2" osteosarcoma amplified 9, endoplasmic reticulum lectin MRH domain containing 1233 2009-02-27 2019-01-21 2023-01-20 10956 ENSG00000135506 OTTHUMG00000170284 uc001spj.4 AB002806 NM_006812 "CCDS31844|CCDS58249|CCDS31843|CCDS91712|CCDS31846|CCDS58246|CCDS58248|CCDS31845|CCDS91713|CCDS91714|CCDS58247" Q13438 "8634085|9498564|19346256|18264092|26721884" MGI:1924301 RGD:1359574 609677 HGNC:16994 "ENST00000315970.12|NM_006812.4" HGNC:8503 OSBP oxysterol binding protein protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OSBP1 "Oxysterol binding proteins|Pleckstrin homology domain containing|MicroRNA protein coding host genes" "670|682|1691" 1990-01-03 2023-01-20 5007 ENSG00000110048 OTTHUMG00000167422 uc001noc.1 AF185696 NM_002556 CCDS7974 P22059 MGI:97447 RGD:1308069 167040 HGNC:8503 "ENST00000263847.6|NM_002556.3" -HGNC:8504 OSBP2 oxysterol binding protein 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "KIAA1664|ORP-4|ORP4" OSBPL1 "Oxysterol binding proteins|Pleckstrin homology domain containing|MicroRNA protein coding host genes" "670|682|1691" 1999-10-29 2023-01-20 23762 ENSG00000184792 OTTHUMG00000151153 uc003aiy.1 NM_030758 "CCDS63446|CCDS63451|CCDS63448|CCDS43002|CCDS63449|CCDS63450" Q969R2 "10591208|11278871|11802775" MGI:1921559 RGD:1310505 606729 HGNC:8504 "ENST00000332585.11|NM_030758.4" -HGNC:16398 OSBPL1A oxysterol binding protein like 1A protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "ORP-1|ORP1" OSBPL1B "oxysterol binding protein-like 1B|oxysterol binding protein-like 1A" "Ankyrin repeat domain containing|Oxysterol binding proteins" "403|670" 2001-09-28 2014-06-03 2015-11-16 2023-01-20 114876 ENSG00000141447 OTTHUMG00000131944 uc002kve.5 "AF392449|AF274714" NM_080597 "CCDS56056|CCDS11885|CCDS11884" Q9BXW6 "11279184|10588946" MGI:1927551 RGD:628888 606730 HGNC:16398 "ENST00000319481.8|NM_080597.4" -HGNC:15761 OSBPL2 oxysterol binding protein like 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "KIAA0772|ORP-2|DFNA67" "oxysterol-binding protein-like 2|oxysterol binding protein-like 2" Oxysterol binding proteins 670 2001-05-31 2015-11-16 2023-01-20 9885 ENSG00000130703 OTTHUMG00000032909 uc002yck.3 AB018315 NM_014835 "CCDS13495|CCDS13494|CCDS86966|CCDS63323" Q9H1P3 "10588946|11861666|25077649" MGI:2442832 RGD:1311312 606731 422342 HGNC:15761 "ENST00000313733.9|NM_144498.4" HGNC:15761 -HGNC:16370 OSBPL3 oxysterol binding protein like 3 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "ORP-3|ORP3|KIAA0704" OSBP3 oxysterol binding protein-like 3 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-08-10 2015-11-16 2023-01-20 26031 ENSG00000070882 OTTHUMG00000023277 uc003sxf.5 AB014604 NM_015550 "CCDS47564|CCDS5390|CCDS5392|CCDS5391" Q9H4L5 9734811 MGI:1918970 RGD:1564287 606732 HGNC:16370 "ENST00000313367.7|NM_015550.4" +HGNC:8504 OSBP2 oxysterol binding protein 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "KIAA1664|ORP-4|ORP4" OSBPL1 "Oxysterol binding proteins|Pleckstrin homology domain containing|MicroRNA protein coding host genes" "670|682|1691" 1999-10-29 2023-01-20 23762 ENSG00000184792 OTTHUMG00000151153 uc003aiy.1 NM_030758 "CCDS63450|CCDS63449|CCDS63448|CCDS63451|CCDS43002|CCDS63446" Q969R2 "10591208|11278871|11802775" MGI:1921559 RGD:1310505 606729 HGNC:8504 "ENST00000332585.11|NM_030758.4" +HGNC:16398 OSBPL1A oxysterol binding protein like 1A protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "ORP-1|ORP1" OSBPL1B "oxysterol binding protein-like 1B|oxysterol binding protein-like 1A" "Ankyrin repeat domain containing|Oxysterol binding proteins" "403|670" 2001-09-28 2014-06-03 2015-11-16 2023-01-20 114876 ENSG00000141447 OTTHUMG00000131944 uc002kve.5 "AF392449|AF274714" NM_080597 "CCDS11885|CCDS56056|CCDS11884" Q9BXW6 "11279184|10588946" MGI:1927551 RGD:628888 606730 HGNC:16398 "ENST00000319481.8|NM_080597.4" +HGNC:15761 OSBPL2 oxysterol binding protein like 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "KIAA0772|ORP-2|DFNA67" "oxysterol-binding protein-like 2|oxysterol binding protein-like 2" Oxysterol binding proteins 670 2001-05-31 2015-11-16 2023-01-20 9885 ENSG00000130703 OTTHUMG00000032909 uc002yck.3 AB018315 NM_014835 "CCDS13495|CCDS63323|CCDS86966|CCDS13494" Q9H1P3 "10588946|11861666|25077649" MGI:2442832 RGD:1311312 606731 422342 HGNC:15761 "ENST00000313733.9|NM_144498.4" HGNC:15761 +HGNC:16370 OSBPL3 oxysterol binding protein like 3 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "ORP-3|ORP3|KIAA0704" OSBP3 oxysterol binding protein-like 3 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-08-10 2015-11-16 2023-01-20 26031 ENSG00000070882 OTTHUMG00000023277 uc003sxf.5 AB014604 NM_015550 "CCDS5391|CCDS5392|CCDS47564|CCDS5390" Q9H4L5 9734811 MGI:1918970 RGD:1564287 606732 HGNC:16370 "ENST00000313367.7|NM_015550.4" HGNC:16392 OSBPL5 oxysterol binding protein like 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA1534|ORP5|OBPH1" oxysterol binding protein homologue 1 oxysterol binding protein-like 5 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2023-01-20 114879 ENSG00000021762 OTTHUMG00000011702 uc001lxk.3 AF392453 NM_001144063 "CCDS31343|CCDS31344" Q9H0X9 MGI:1930265 RGD:1308402 606733 HGNC:16392 "ENST00000263650.12|NM_020896.4" -HGNC:16388 OSBPL6 oxysterol binding protein like 6 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 ORP6 OSBP-related protein 6 oxysterol binding protein-like 6 Oxysterol binding proteins 670 2001-09-28 2015-11-16 2023-01-20 114880 ENSG00000079156 OTTHUMG00000132579 uc002ulx.4 AF392448 NM_032523 "CCDS56151|CCDS2278|CCDS56150|CCDS56152|CCDS2277" Q9BZF3 11483621 MGI:2139014 RGD:1308887 606734 HGNC:16388 "ENST00000190611.9|NM_032523.4" +HGNC:16388 OSBPL6 oxysterol binding protein like 6 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 ORP6 OSBP-related protein 6 oxysterol binding protein-like 6 Oxysterol binding proteins 670 2001-09-28 2015-11-16 2023-01-20 114880 ENSG00000079156 OTTHUMG00000132579 uc002ulx.4 AF392448 NM_032523 "CCDS2277|CCDS56150|CCDS2278|CCDS56151|CCDS56152" Q9BZF3 11483621 MGI:2139014 RGD:1308887 606734 HGNC:16388 "ENST00000190611.9|NM_032523.4" HGNC:16387 OSBPL7 oxysterol binding protein like 7 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "ORP7|MGC71150" oxysterol binding protein-like 7 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2023-01-20 114881 ENSG00000006025 OTTHUMG00000178288 uc060gpw.1 AF392446 NM_017731 CCDS11515 Q9BZF2 "14593528|11735225" MGI:1918490 RGD:1309141 606735 HGNC:16387 "ENST00000007414.8|NM_145798.3" HGNC:16396 OSBPL8 oxysterol binding protein like 8 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "OSBP10|ORP8|MST120|MSTP120" oxysterol binding protein-like 8 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2023-01-20 114882 ENSG00000091039 OTTHUMG00000169876 uc001sye.2 AF392452 NM_020841 "CCDS41814|CCDS31862" Q9BZF1 "1735225|17991739" MGI:2443807 RGD:1561474 606736 HGNC:16396 "ENST00000261183.8|NM_020841.5" -HGNC:16386 OSBPL9 oxysterol binding protein like 9 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 oxysterol binding protein-like 9 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2023-01-20 114883 ENSG00000117859 OTTHUMG00000008234 uc001cst.5 AF392445 NM_001330580 "CCDS55598|CCDS44145|CCDS41334|CCDS558|CCDS41332|CCDS81322|CCDS41333" Q96SU4 MGI:1923784 RGD:1311508 606737 HGNC:16386 "ENST00000428468.6|NM_024586.6" +HGNC:16386 OSBPL9 oxysterol binding protein like 9 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 oxysterol binding protein-like 9 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2023-01-20 114883 ENSG00000117859 OTTHUMG00000008234 uc001cst.5 AF392445 NM_001330580 "CCDS81322|CCDS41332|CCDS41333|CCDS558|CCDS41334|CCDS55598|CCDS44145" Q96SU4 MGI:1923784 RGD:1311508 606737 HGNC:16386 "ENST00000428468.6|NM_024586.6" HGNC:48731 OSBPL9P1 oxysterol binding protein like 9 pseudogene 1 pseudogene pseudogene Approved 3p12.2 03p12.2 oxysterol binding protein-like 9 pseudogene 1 2013-06-07 2015-11-16 2016-11-09 100130821 ENSG00000271389 OTTHUMG00000158929 NG_022251 PGOHUM00000299485 HGNC:48731 HGNC:48732 OSBPL9P2 oxysterol binding protein like 9 pseudogene 2 pseudogene pseudogene Approved 11q14.3 11q14.3 oxysterol binding protein-like 9 pseudogene 2 2013-06-07 2015-11-16 2015-11-16 100130038 ENSG00000254677 OTTHUMG00000167313 NG_023263 PGOHUM00000242421 HGNC:48732 HGNC:48733 OSBPL9P3 oxysterol binding protein like 9 pseudogene 3 pseudogene pseudogene Approved 11q14.3 11q14.3 oxysterol binding protein-like 9 pseudogene 3 2013-06-07 2015-11-16 2015-11-16 100420591 ENSG00000255070 OTTHUMG00000167314 NG_024546 PGOHUM00000242855 HGNC:48733 @@ -24449,8 +24451,8 @@ HGNC:48736 OSBPL9P6 oxysterol binding protein like 9 pseudogene 6 pseudogene pse HGNC:16395 OSBPL10 oxysterol binding protein like 10 protein-coding gene gene with protein product Approved 3p23 03p23 oxysterol binding protein-like 10 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2023-01-20 114884 ENSG00000144645 OTTHUMG00000130672 uc021wuu.2 AF392451 NM_001174060 "CCDS2651|CCDS54559" Q9BXB5 MGI:1921736 RGD:1561652 606738 HGNC:16395 "ENST00000396556.7|NM_017784.5" HGNC:40767 OSBPL10-AS1 OSBPL10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p23 03p23 OSBPL10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874206 ENSG00000232490 OTTHUMG00000155828 uc031ryt.2 NR_049771 OSBPL10-AS1 HGNC:40767 HGNC:16397 OSBPL11 oxysterol binding protein like 11 protein-coding gene gene with protein product Approved 3q21.2 03q21.2 "ORP-11|ORP11|FLJ13012|FLJ13164" oxysterol binding protein-like 11 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2023-01-20 114885 ENSG00000144909 OTTHUMG00000159571 uc003eic.4 AF392454 NM_022776 CCDS3033 Q9BXB4 MGI:2146553 RGD:1307294 606739 HGNC:16397 "ENST00000296220.6|NM_022776.5" -HGNC:29960 OSCAR osteoclast associated Ig-like receptor protein-coding gene gene with protein product Approved 19q13.42 19q13.42 osteoclast associated, immunoglobulin-like receptor Immunoglobulin like domain containing 594 2007-06-21 2019-02-21 2023-01-20 126014 ENSG00000170909 OTTHUMG00000064966 uc002qda.5 AK130199 NM_133169 "CCDS62789|CCDS74444|CCDS12875|CCDS12874|CCDS12876|CCDS12873" Q8IYS5 11805147 MGI:2179720 RGD:1559897 606862 HGNC:29960 "ENST00000358375.9|NM_133169.6" -HGNC:29971 OSCP1 organic solute carrier partner 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 NOR1 oxidored nitro domain containing protein C1orf102 chromosome 1 open reading frame 102 Small nucleolar RNA protein coding host genes 1835 2005-06-15 2009-07-06 2009-07-06 2023-01-20 127700 ENSG00000116885 OTTHUMG00000008139 uc001caq.4 NM_145047 "CCDS410|CCDS81301|CCDS409" Q8WVF1 "12819961|16006562" MGI:1916308 RGD:1306596 608854 HGNC:29971 "ENST00000235532.9|NM_145047.5" +HGNC:29960 OSCAR osteoclast associated Ig-like receptor protein-coding gene gene with protein product Approved 19q13.42 19q13.42 osteoclast associated, immunoglobulin-like receptor Immunoglobulin like domain containing 594 2007-06-21 2019-02-21 2023-01-20 126014 ENSG00000170909 OTTHUMG00000064966 uc002qda.5 AK130199 NM_133169 "CCDS12875|CCDS12876|CCDS12874|CCDS62789|CCDS74444|CCDS12873" Q8IYS5 11805147 MGI:2179720 RGD:1559897 606862 HGNC:29960 "ENST00000358375.9|NM_133169.6" +HGNC:29971 OSCP1 organic solute carrier partner 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 NOR1 oxidored nitro domain containing protein C1orf102 chromosome 1 open reading frame 102 Small nucleolar RNA protein coding host genes 1835 2005-06-15 2009-07-06 2009-07-06 2023-01-20 127700 ENSG00000116885 OTTHUMG00000008139 uc001caq.4 NM_145047 "CCDS81301|CCDS410|CCDS409" Q8WVF1 "12819961|16006562" MGI:1916308 RGD:1306596 608854 HGNC:29971 "ENST00000235532.9|NM_145047.5" HGNC:16105 OSER1 oxidative stress responsive serine rich 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ1183I21.1|HSPC207|Perit1|Osr1" "peroxide-inducible transcript 1|oxidative stress-responsive 1" C20orf111 "chromosome 20 open reading frame 111|oxidative stress responsive serine-rich 1" 2001-07-17 2013-05-17 2016-04-06 2023-01-20 51526 ENSG00000132823 OTTHUMG00000032518 AL035447 NM_016470 CCDS13327 Q9NX31 "17148688|27982722" MGI:1913930 RGD:1303142 HGNC:16105 "ENST00000255174.3|NM_016470.8" HGNC:48585 OSER1-DT OSER1 divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 OSER1-AS1 OSER1 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-17 2018-03-23 2018-03-23 2018-03-23 100505783 ENSG00000223891 OTTHUMG00000032521 NR_038337 OSER1-AS1 HGNC:48585 HGNC:18028 OSGEP O-sialoglycoprotein endopeptidase protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "PRSMG1|GCPL1|OSGEP1|KAE1|TCS3" KEOPS complex 1313 2002-01-23 2023-01-20 55644 ENSG00000092094 OTTHUMG00000029543 uc001vxf.4 AB050442 NM_017807 CCDS9549 Q9NPF4 "12039036|28272532|17047052|22912744" MGI:1913496 RGD:1308578 610107 3.4.24.57 HGNC:18028 "ENST00000206542.9|NM_017807.4" HGNC:18028 @@ -24458,13 +24460,13 @@ HGNC:23075 OSGEPL1 O-sialoglycoprotein endopeptidase like 1 protein-coding gene HGNC:41009 OSGEPL1-AS1 OSGEPL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.2 02q32.2 OSGEPL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2021-03-24 101409258 ENSG00000253559 OTTHUMG00000164097 uc061qpk.1 "BX474356|DB142079" NR_102429 OSGEPL1-AS1 HGNC:41009 HGNC:30093 OSGIN1 oxidative stress induced growth inhibitor 1 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 "BDGI|OKL38" "bone marrow stromal cell-derived growth inhibitor|pregnancy induced growth inhibitor" 2006-10-05 2023-03-15 29948 ENSG00000140961 OTTHUMG00000137640 uc002fhb.5 AY258066 NM_013370 CCDS10939 Q9UJX0 "11459809|14570898" MGI:1919089 RGD:620679 607975 HGNC:30093 "ENST00000393306.6|NM_182981.3" HGNC:1355 OSGIN2 oxidative stress induced growth inhibitor family member 2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 hT41 C8orf1 chromosome 8 open reading frame 1 1998-08-06 2006-10-05 2006-10-05 2023-01-20 734 ENSG00000164823 OTTHUMG00000163811 uc003yeh.4 AF061326 NM_004337 "CCDS47888|CCDS6248" Q9Y236 9933573 MGI:2384798 RGD:1306323 604598 HGNC:1355 "ENST00000451899.7|NM_001126111.3" -HGNC:8506 OSM oncostatin M protein-coding gene gene with protein product Approved 22q12.2 22q12.2 MGC20461 Interleukin 6 type cytokine family 1264 1992-07-09 2023-01-20 5008 ENSG00000099985 OTTHUMG00000150913 uc003ahb.4 AF129855 NM_020530 "CCDS82706|CCDS13873" P13725 1717982 MGI:104749 RGD:1585012 165095 ligandId:5035 HGNC:8506 "ENST00000215781.3|NM_020530.6" -HGNC:8507 OSMR oncostatin M receptor protein-coding gene gene with protein product Approved 5p13.1 05p13.1 "OSMRB|OSMRbeta" Oncostatin-M-specific receptor subunit beta Fibronectin type III domain containing 555 1999-02-17 2023-01-20 9180 ENSG00000145623 OTTHUMG00000090811 uc003jln.2 U60805 NM_003999 "CCDS3928|CCDS54847" Q99650 8999038 MGI:1330819 RGD:1302983 601743 140041 objectId:1714 HGNC:8507 "ENST00000274276.8|NM_003999.3" HGNC:8507 +HGNC:8506 OSM oncostatin M protein-coding gene gene with protein product Approved 22q12.2 22q12.2 MGC20461 Interleukin 6 type cytokine family 1264 1992-07-09 2023-01-20 5008 ENSG00000099985 OTTHUMG00000150913 uc003ahb.4 AF129855 NM_020530 "CCDS13873|CCDS82706" P13725 1717982 MGI:104749 RGD:1585012 165095 ligandId:5035 HGNC:8506 "ENST00000215781.3|NM_020530.6" +HGNC:8507 OSMR oncostatin M receptor protein-coding gene gene with protein product Approved 5p13.1 05p13.1 "OSMRB|OSMRbeta" Oncostatin-M-specific receptor subunit beta Fibronectin type III domain containing 555 1999-02-17 2023-01-20 9180 ENSG00000145623 OTTHUMG00000090811 uc003jln.2 U60805 NM_003999 "CCDS54847|CCDS3928" Q99650 8999038 MGI:1330819 RGD:1302983 601743 140041 objectId:1714 HGNC:8507 "ENST00000274276.8|NM_003999.3" HGNC:8507 HGNC:50296 OSMR-DT OSMR divergent transcript non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 OSMR-AS1 OSMR antisense RNA 1 (head to head) Divergent transcripts 1990 2014-04-03 2021-04-14 2021-04-14 2021-04-14 101929768 ENSG00000249740 OTTHUMG00000162040 NR_109951 OSMR-AS1 HGNC:50296 HGNC:8111 OSR1 odd-skipped related transcription factor 1 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 ODD "odd-skipped (Drosophila) homolog|odd-skipped related 1 (Drosophila)" Zinc fingers C2H2-type 28 1995-11-14 2004-11-26 2018-11-05 2023-01-20 130497 ENSG00000143867 OTTHUMG00000088793 uc002rdc.4 BC025712 NM_145260 CCDS1694 Q8TAX0 "2120051|12119563" MGI:1344424 RGD:1311807 608891 HGNC:8111 "ENST00000272223.3|NM_145260.3" HGNC:15830 OSR2 odd-skipped related transciption factor 2 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 FLJ90037 odd-skipped related 2 (Drosophila) Zinc fingers C2H2-type 28 2004-11-22 2013-10-17 2023-01-20 116039 ENSG00000164920 OTTHUMG00000164640 uc003yir.5 AY038072 NM_053001 "CCDS69520|CCDS47902|CCDS47901" Q8N2R0 MGI:1930813 RGD:1305812 611297 HGNC:15830 "ENST00000297565.9|NM_001142462.3" HGNC:32483 OST4 oligosaccharyltransferase complex subunit 4, non-catalytic protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "oligosaccharyltransferase 4 homolog (S. cerevisiae)|oligosaccharyltransferase complex subunit 4 (non-catalytic)" Oligosaccharyltransferase complex subunits 445 2010-04-08 2016-03-01 2023-01-20 100128731 ENSG00000228474 OTTHUMG00000151990 uc002rig.4 BC105283 NM_001134693 CCDS58703 P0C6T2 "16317064|23606741" MGI:1914945 RGD:2300150 618932 HGNC:32483 "ENST00000456793.2|NM_001134693.2" -HGNC:24448 OSTC oligosaccharyltransferase complex non-catalytic subunit protein-coding gene gene with protein product Approved 4q25 04q25 DC2 DC2 protein oligosaccharyltransferase complex subunit Oligosaccharyltransferase complex subunits 445 2008-12-16 2016-07-05 2023-01-20 58505 ENSG00000198856 OTTHUMG00000161031 uc003hzb.3 AF201937 NM_021227 "CCDS75177|CCDS58921|CCDS3681" Q9NRP0 15835887 MGI:1913607 RGD:1560708 619023 HGNC:24448 "ENST00000361564.9|NM_021227.4" +HGNC:24448 OSTC oligosaccharyltransferase complex non-catalytic subunit protein-coding gene gene with protein product Approved 4q25 04q25 DC2 DC2 protein oligosaccharyltransferase complex subunit Oligosaccharyltransferase complex subunits 445 2008-12-16 2016-07-05 2023-01-20 58505 ENSG00000198856 OTTHUMG00000161031 uc003hzb.3 AF201937 NM_021227 "CCDS3681|CCDS58921|CCDS75177" Q9NRP0 15835887 MGI:1913607 RGD:1560708 619023 HGNC:24448 "ENST00000361564.9|NM_021227.4" HGNC:30530 OSTCP1 oligosaccharyltransferase complex subunit pseudogene 1 pseudogene pseudogene Approved 6q25.3 06q25.3 DC2L DC2 protein-like OSTCL oligosaccharyltransferase complex subunit-like 2008-12-16 2011-09-02 2011-09-02 2023-03-15 202459 ENSG00000243775 OTTHUMG00000015919 BC024224 NR_028496 12477932 PGOHUM00000243434 HGNC:30530 HGNC:42864 OSTCP2 oligosaccharyltransferase complex subunit pseudogene 2 pseudogene pseudogene Approved 1p36.11 01p36.11 2011-09-02 2011-09-02 646567 ENSG00000225294 OTTHUMG00000004276 XM_047437145 PGOHUM00000243945 HGNC:42864 HGNC:42865 OSTCP3 oligosaccharyltransferase complex subunit pseudogene 3 pseudogene pseudogene Approved 19q13.42 19q13.42 2011-09-02 2020-04-06 646557 ENSG00000269608 OTTHUMG00000183000 NG_030060 PGOHUM00000234776 HGNC:42865 @@ -24480,10 +24482,10 @@ HGNC:43666 OSTM1-AS1 OSTM1 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:29961 OSTN osteocrin protein-coding gene gene with protein product Approved 3q28 03q28 2004-01-22 2023-01-20 344901 ENSG00000188729 OTTHUMG00000156190 uc011bsn.2 AY398681 NM_198184 CCDS3299 P61366 14523025 MGI:2677164 RGD:1303110 610280 ligandId:5036 HGNC:29961 "ENST00000682035.1|NM_198184.2" HGNC:41250 OSTN-AS1 OSTN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 OSTN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 106480738 ENSG00000233308 OTTHUMG00000156189 uc062rko.1 NR_133663 OSTN-AS1 HGNC:41250 HGNC:8512 OTC ornithine transcarbamylase protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "OTCase|OTCD|OTC1" ornithine transcarbamylase deficiency ornithine carbamoyltransferase 2001-06-22 2020-10-27 2023-01-20 5009 ENSG00000036473 OTTHUMG00000022727 uc004def.5 K02100 NM_000531 CCDS14247 P00480 2556444 MGI:97448 RGD:3236 "OTC - Ornithine transcarbamylase deficiency|http://www.LOVD.nl/OTC|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/OTC|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/OTC|LRG_846|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_846.xml" 300461 124033 2.1.3.3 HGNC:8512 "ENST00000039007.5|NM_000531.6" HGNC:8512 -HGNC:16378 OTOA otoancorin protein-coding gene gene with protein product Approved 16p12.2 16p12.2 CT108 cancer/testis antigen 108 DFNB22 deafness, autosomal recessive 22 2002-07-05 2002-07-05 2023-01-20 146183 ENSG00000155719 OTTHUMG00000090721 uc002djh.3 AK057335 NM_001161683 "CCDS32403|CCDS10600|CCDS53994" Q7RTW8 "11972037|19088187" MGI:2149209 RGD:1562741 607038 166800 HGNC:16378 "ENST00000646100.2|NM_144672.4" HGNC:16378 +HGNC:16378 OTOA otoancorin protein-coding gene gene with protein product Approved 16p12.2 16p12.2 CT108 cancer/testis antigen 108 DFNB22 deafness, autosomal recessive 22 2002-07-05 2002-07-05 2023-01-20 146183 ENSG00000155719 OTTHUMG00000090721 uc002djh.3 AK057335 NM_001161683 "CCDS32403|CCDS53994|CCDS10600" Q7RTW8 "11972037|19088187" MGI:2149209 RGD:1562741 607038 166800 HGNC:16378 "ENST00000646100.2|NM_144672.4" HGNC:16378 HGNC:53869 OTOAP1 OTOA pseudogene 1 pseudogene pseudogene Approved 16p12.2 16p12.2 LOC653786 2018-05-01 2018-07-05 653786 ENSG00000257838 OTTHUMG00000170420 NR_003676 29552295 PGOHUM00000293742 HGNC:53869 -HGNC:8515 OTOF otoferlin protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FER1L2|DFNB6" fer-1-like family member 2 DFNB9 Ferlin family 828 1999-03-31 2023-03-15 9381 ENSG00000115155 OTTHUMG00000096977 uc002rhk.3 AF107403 NM_001287489 "CCDS1726|CCDS74497|CCDS1724|CCDS1725" Q9HC10 "10192385|18381613" MGI:1891247 RGD:620646 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=OTOF" 603681 124035 HGNC:8515 "ENST00000272371.7|NM_194248.3" HGNC:8515 -HGNC:8516 OTOG otogelin protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "mlemp|OTGN|FLJ46346" 1998-05-05 2023-01-20 340990 ENSG00000188162 OTTHUMG00000149905 uc057znr.1 AK128214 NM_001277269 "CCDS76390|CCDS59225" Q6ZRI0 "9405633|10655058" MGI:1202064 RGD:1306610 604487 317554 HGNC:8516 "ENST00000399397.6|NM_001292063.2" HGNC:8516 +HGNC:8515 OTOF otoferlin protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FER1L2|DFNB6" fer-1-like family member 2 DFNB9 Ferlin family 828 1999-03-31 2023-03-15 9381 ENSG00000115155 OTTHUMG00000096977 uc002rhk.3 AF107403 NM_001287489 "CCDS1725|CCDS1724|CCDS1726|CCDS74497" Q9HC10 "10192385|18381613" MGI:1891247 RGD:620646 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=OTOF" 603681 124035 HGNC:8515 "ENST00000272371.7|NM_194248.3" HGNC:8515 +HGNC:8516 OTOG otogelin protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "mlemp|OTGN|FLJ46346" 1998-05-05 2023-01-20 340990 ENSG00000188162 OTTHUMG00000149905 uc057znr.1 AK128214 NM_001277269 "CCDS59225|CCDS76390" Q6ZRI0 "9405633|10655058" MGI:1202064 RGD:1306610 604487 317554 HGNC:8516 "ENST00000399397.6|NM_001292063.2" HGNC:8516 HGNC:26901 OTOGL otogelin like protein-coding gene gene with protein product Approved 12q21.31 12q21.31 FLJ90579 C12orf64 "chromosome 12 open reading frame 64|otogelin-like" 2007-02-02 2011-02-11 2016-03-10 2023-03-15 283310 ENSG00000165899 OTTHUMG00000150509 uc001szd.3 AK096852 NM_173591 "CCDS91730|CCDS91731" Q3ZCN5 23122586 MGI:3647600 RGD:1589018 614925 317567 HGNC:26901 "ENST00000547103.7|NM_001378609.3" HGNC:26901 HGNC:34071 OTOL1 otolin 1 protein-coding gene gene with protein product Approved 3q26.1 03q26.1 "C1QTNF15|C1QTNF16" C1q and TNF related 16 otolin 1 homolog (zebrafish) C1q and TNF related 1372 2010-08-18 2011-05-19 2023-01-20 131149 ENSG00000182447 OTTHUMG00000159074 uc011bpb.2 NM_001080440 CCDS46948 A6NHN0 "17544811|15905077" MGI:2685260 RGD:1562064 HGNC:34071 "ENST00000327928.4|NM_001080440.1" HGNC:19656 OTOP1 otopetrin 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 2004-01-19 2023-01-20 133060 ENSG00000163982 OTTHUMG00000090301 uc003ghp.2 BK000653 NM_177998 CCDS3372 Q7RTM1 12651873 MGI:2388363 RGD:631389 607806 HGNC:19656 "ENST00000296358.5|NM_177998.3" @@ -24496,9 +24498,9 @@ HGNC:23077 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 protein-coding HGNC:20351 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "FLJ21916|MGC3102" C14orf137 "chromosome 14 open reading frame 137|OTU domain, ubiquitin aldehyde binding 2" OTU domain containing 669 2003-01-28 2004-05-28 2014-02-24 2023-01-20 78990 ENSG00000089723 OTTHUMG00000171300 uc001yci.4 AF318378 NM_023112 CCDS9917 Q96DC9 "12704427|19996094" MGI:1915399 RGD:1306688 608338 C65.002 HGNC:20351 "ENST00000203664.10|NM_023112.4" HGNC:27346 OTUD1 OTU deubiquitinase 1 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 DUBA7 OTDC1 OTU domain containing 1 OTU domain containing 669 2004-05-27 2014-02-24 2023-01-20 220213 ENSG00000165312 OTTHUMG00000017819 uc001irr.3 AK096389 NM_001145373 CCDS44366 Q5VV17 23827681 MGI:1918448 RGD:1563344 612022 C85.004 HGNC:27346 "ENST00000376495.5|NM_001145373.3" HGNC:29038 OTUD3 OTU deubiquitinase 3 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "KIAA0459|DUBA4" OTU domain containing 3 OTU domain containing 669 2005-07-18 2014-02-24 2023-01-20 23252 ENSG00000169914 OTTHUMG00000002696 uc001bcs.5 AB007928 NM_015207 CCDS41279 Q5T2D3 "9455484|23827681" MGI:1920412 RGD:1560468 611758 HGNC:29038 "ENST00000375120.4|NM_015207.2" -HGNC:24949 OTUD4 OTU deubiquitinase 4 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "HSHIN1|KIAA1046|DUBA6" OTU domain containing 4 OTU domain containing 669 2005-09-28 2014-02-24 2023-03-15 54726 ENSG00000164164 OTTHUMG00000161480 uc062zzb.1 NM_017493 "CCDS47139|CCDS3764|CCDS93644" Q01804 "1475186|12727813|19996094" MGI:1098801 RGD:1305606 611744 470818 HGNC:24949 "ENST00000447906.8|NM_001366057.1" +HGNC:24949 OTUD4 OTU deubiquitinase 4 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "HSHIN1|KIAA1046|DUBA6" OTU domain containing 4 OTU domain containing 669 2005-09-28 2014-02-24 2023-03-15 54726 ENSG00000164164 OTTHUMG00000161480 uc062zzb.1 NM_017493 "CCDS3764|CCDS93644|CCDS47139" Q01804 "1475186|12727813|19996094" MGI:1098801 RGD:1305606 611744 470818 HGNC:24949 "ENST00000447906.8|NM_001366057.1" HGNC:33912 OTUD4P1 OTUD4 pseudogene 1 pseudogene pseudogene Approved 12p13.32 12p13.32 HIN1L 2014-02-24 2014-11-19 360227 ENSG00000118976 OTTHUMG00000168119 NG_005318 PGOHUM00000258652 HGNC:33912 -HGNC:25402 OTUD5 OTU deubiquitinase 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "DKFZp761A052|DUBA" deubiquitinase A OTU domain containing 5 OTU domain containing 669 2005-09-28 2014-02-24 2023-01-20 55593 ENSG00000068308 OTTHUMG00000024130 uc004dlu.4 NM_017602 "CCDS48104|CCDS48105|CCDS14313" Q96G74 24143256 MGI:1859615 RGD:1563027 300713 C85.001 3.4.19.12 HGNC:25402 "ENST00000376488.8|NM_001136157.2" HGNC:25402 +HGNC:25402 OTUD5 OTU deubiquitinase 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "DKFZp761A052|DUBA" deubiquitinase A OTU domain containing 5 OTU domain containing 669 2005-09-28 2014-02-24 2023-01-20 55593 ENSG00000068308 OTTHUMG00000024130 uc004dlu.4 NM_017602 "CCDS14313|CCDS48104|CCDS48105" Q96G74 24143256 MGI:1859615 RGD:1563027 300713 C85.001 3.4.19.12 HGNC:25402 "ENST00000376488.8|NM_001136157.2" HGNC:25402 HGNC:32312 OTUD6A OTU deubiquitinase 6A protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "FLJ25831|HSHIN6|DUBA2" OTU domain containing 6A OTU domain containing 669 2005-09-28 2014-02-24 2023-01-20 139562 ENSG00000189401 OTTHUMG00000159996 uc004dxu.1 AK098697 NM_207320 CCDS14395 Q7L8S5 23827681 MGI:3644685 RGD:1560855 300714 HGNC:32312 "ENST00000338352.3|NM_207320.3" HGNC:24281 OTUD6B OTU deubiquitinase 6B protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "CGI-77|DUBA5" OTU domain containing 6B OTU domain containing 669 2005-09-28 2019-07-31 2023-01-20 51633 ENSG00000155100 OTTHUMG00000150758 uc003yeu.4 NM_016023 "CCDS6253|CCDS69513" Q8N6M0 27864334 MGI:1919451 RGD:1310024 612021 HGNC:24281 "ENST00000404789.8|NM_016023.5" HGNC:24281 HGNC:50466 OTUD6B-AS1 OTUD6B antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 8q21.3 08q21.3 GS1-251I9.4 Antisense RNAs 1987 2014-04-30 2019-07-12 100506365 ENSG00000253738 OTTHUMG00000164022 NR_110438 31156645 OTUD6B-AS1 HGNC:50466 @@ -24524,7 +24526,7 @@ HGNC:15804 OVOL2 ovo like zinc finger 2 protein-coding gene gene with protein pr HGNC:14186 OVOL3 ovo like zinc finger 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 HOVO3 ovo-like 3 (Drosophila) Zinc fingers C2H2-type 28 2011-12-02 2016-01-18 2023-03-15 728361 ENSG00000105261 OTTHUMG00000181748 uc031rkj.3 NM_001302757 CCDS82333 O00110 MGI:2388075 RGD:1583800 616442 HGNC:14186 "ENST00000633214.2|NM_001302757.2" HGNC:8526 OXA1L OXA1L mitochondrial inner membrane protein protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "MGC133129|OXA1|OXA1L1" "oxidase (cytochrome c) assembly 1-like|OXA1L, mitochondrial inner membrane protein" Mitochondrial respiratory chain complex assembly factors 645 1995-09-20 2019-01-25 2023-01-20 5018 ENSG00000155463 OTTHUMG00000028691 uc058zij.1 NM_005015 CCDS9573 Q15070 "8586451|19349278" MGI:1916339 RGD:1585024 601066 HGNC:8526 "ENST00000612549.6|NM_005015.5" HGNC:55448 OXA1L-DT OXA1L divergent transcript non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Divergent transcripts 1990 2021-01-15 2021-01-15 105370404 ENSG00000258458 XR_001750638 -HGNC:8527 OXCT1 3-oxoacid CoA-transferase 1 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 SCOT Succinyl-CoA:3-ketoacid-CoA transferase OXCT "3-oxoacid CoA transferase|3-oxoacid CoA transferase 1" 1997-12-05 2004-05-12 2015-11-11 2023-01-20 5019 ENSG00000083720 OTTHUMG00000094783 uc003jmn.4 U62961 NM_000436 "CCDS93708|CCDS3937" P55809 8751852 MGI:1914291 RGD:1584008 601424 124042 2.8.3.5 HGNC:8527 "ENST00000196371.10|NM_000436.4" HGNC:8527 +HGNC:8527 OXCT1 3-oxoacid CoA-transferase 1 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 SCOT Succinyl-CoA:3-ketoacid-CoA transferase OXCT "3-oxoacid CoA transferase|3-oxoacid CoA transferase 1" 1997-12-05 2004-05-12 2015-11-11 2023-01-20 5019 ENSG00000083720 OTTHUMG00000094783 uc003jmn.4 U62961 NM_000436 "CCDS3937|CCDS93708" P55809 8751852 MGI:1914291 RGD:1584008 601424 124042 2.8.3.5 HGNC:8527 "ENST00000196371.10|NM_000436.4" HGNC:8527 HGNC:40423 OXCT1-AS1 OXCT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 SARRAH SCOT1-antisense RNA regulated during aging in the heart OXCT1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-01 2012-08-15 2020-08-05 100874002 ENSG00000248668 OTTHUMG00000162087 uc032usd.2 "DB470733|DB476656" NR_046635 "30609030|32341350" MGI:3040924 OXCT1-AS1 HGNC:40423 HGNC:18606 OXCT2 3-oxoacid CoA-transferase 2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FKSG25|FLJ00030|SCOT-T" 2002-05-02 2015-11-11 2023-01-20 64064 ENSG00000198754 OTTHUMG00000009249 uc001ceb.2 AB050193 NM_022120 CCDS445 Q9BYC2 "11214971|11756565" "MGI:1891061|MGI:2664115" RGD:1306953 610289 2.8.3.5 HGNC:18606 "ENST00000327582.5|NM_022120.2" HGNC:21627 OXCT2P1 3-oxoacid CoA-transferase 2 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 OXCT2P 3-oxoacid CoA transferase 2 pseudogene 2003-07-14 2010-03-04 2015-11-11 2016-10-05 192217 ENSG00000237624 OTTHUMG00000009250 NG_001331 PGOHUM00000244680 HGNC:21627 @@ -24532,7 +24534,7 @@ HGNC:24884 OXER1 oxoeicosanoid receptor 1 protein-coding gene gene with protein HGNC:4531 OXGR1 oxoglutarate receptor 1 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "P2RY15|P2Y15|aKGR" "2-oxoglutarate receptor 1|alpha-ketoglutarate receptor 1" "GPR99|GPR80" "G protein-coupled receptor 80|oxoglutarate (alpha-ketoglutarate) receptor 1" Oxoglutarate receptor 935 2000-01-20 2004-07-09 2016-02-01 2023-01-20 27199 ENSG00000165621 OTTHUMG00000017236 uc001vmx.1 AF411109 NM_080818 CCDS9482 Q96P68 "15141213|12098360" MGI:2685145 RGD:1303155 606922 objectId:162 HGNC:4531 "ENST00000541038.2|NM_001346194.2" HGNC:27901 OXLD1 oxidoreductase like domain containing 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 MGC104712 C17orf90 "chromosome 17 open reading frame 90|oxidoreductase-like domain containing 1" 2007-11-19 2012-07-20 2016-04-01 2023-01-20 339229 ENSG00000204237 OTTHUMG00000178063 uc002kba.3 NM_001039842 "CCDS32766|CCDS77132" Q5BKU9 MGI:1913681 RGD:1590060 HGNC:27901 "ENST00000374741.4|NM_001039842.3" HGNC:25128 OXNAD1 oxidoreductase NAD binding domain containing 1 protein-coding gene gene with protein product Approved 3p25.1-p24.3 03p25.1-p24.3 MGC15763 oxidoreductase NAD-binding domain containing 1 2005-12-22 2016-04-04 2023-01-20 92106 ENSG00000154814 OTTHUMG00000129867 uc003cax.4 AL832787 NM_138381 "CCDS87053|CCDS2630" Q96HP4 26416425 MGI:1916953 RGD:1311534 HGNC:25128 "ENST00000285083.10|NM_138381.5" -HGNC:15822 OXR1 oxidation resistance 1 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 TLDC3 TBC/LysM-associated domain containing 3 TLDc domain containing 2055 2001-06-14 2023-01-20 55074 ENSG00000164830 OTTHUMG00000167682 uc011lhu.3 AF309387 NM_181354 "CCDS56548|CCDS6304|CCDS56547|CCDS56549|CCDS56550|CCDS47909" Q8N573 11114193 MGI:2179326 RGD:621857 605609 HGNC:15822 "ENST00000517566.7|NM_001198533.2" HGNC:15822 +HGNC:15822 OXR1 oxidation resistance 1 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 TLDC3 TBC/LysM-associated domain containing 3 TLDc domain containing 2055 2001-06-14 2023-01-20 55074 ENSG00000164830 OTTHUMG00000167682 uc011lhu.3 AF309387 NM_181354 "CCDS56547|CCDS56548|CCDS56550|CCDS56549|CCDS6304|CCDS47909" Q8N573 11114193 MGI:2179326 RGD:621857 605609 HGNC:15822 "ENST00000517566.7|NM_001198533.2" HGNC:15822 HGNC:55533 OXR1-AS1 OXR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q23.1 08q23.1 Antisense RNAs 1987 2021-03-24 2021-03-24 105375700 ENSG00000253582 XR_007061051 HGNC:26063 OXSM 3-oxoacyl-ACP synthase, mitochondrial protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "KS|FLJ20604|FASN2D|CEM1" beta-ketoacyl synthase 2005-12-21 2023-01-20 54995 ENSG00000151093 OTTHUMG00000130477 uc003cdn.4 BC008202 NM_017897 "CCDS2643|CCDS46780" Q9NWU1 15668256 MGI:1918397 RGD:1311092 610324 2.3.1.41 HGNC:26063 "ENST00000280701.8|NM_017897.3" HGNC:8508 OXSR1 oxidative stress responsive kinase 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 KIAA1101 OSR1 oxidative-stress responsive 1 1999-05-06 2004-11-26 2018-10-15 2023-01-20 9943 ENSG00000172939 OTTHUMG00000131084 uc003chy.4 AB017642 NM_005109 CCDS2675 O95747 10083736 MGI:1917378 RGD:1310466 604046 objectId:2132 HGNC:8508 "ENST00000311806.8|NM_005109.3" @@ -24541,8 +24543,8 @@ HGNC:8529 OXTR oxytocin receptor protein-coding gene gene with protein product A HGNC:8533 P2RX1 purinergic receptor P2X 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 P2X1 purinergic receptor P2X, ligand-gated ion channel, 1 Purinergic receptors P2X 214 1997-01-16 2016-02-05 2023-01-20 5023 ENSG00000108405 OTTHUMG00000177673 uc002fww.4 X83688 NM_002558 CCDS11040 P51575 8834001 MGI:1098235 RGD:3240 600845 470824 objectId:478 HGNC:8533 "ENST00000225538.4|NM_002558.4" HGNC:15459 P2RX2 purinergic receptor P2X 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 P2X2 DFNA41 "deafness, autosomal dominant 41|purinergic receptor P2X, ligand-gated ion channel, 2" Purinergic receptors P2X 214 2001-03-30 2016-02-05 2023-01-20 22953 ENSG00000187848 OTTHUMG00000168018 uc001uki.3 AF109387 NM_001282164 Q9UBL9 "10570044|7523952|23345450" MGI:2665170 RGD:620251 600844 330683 objectId:479 HGNC:15459 "ENST00000643471.2|NM_170682.4" HGNC:15459 HGNC:8534 P2RX3 purinergic receptor P2X 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 P2X3 purinergic receptor P2X, ligand-gated ion channel, 3 Purinergic receptors P2X 214 1997-10-09 2016-02-05 2023-01-20 5024 ENSG00000109991 OTTHUMG00000167025 uc001nju.4 Y07683 NM_002559 CCDS7953 P56373 9221902 MGI:1097160 RGD:620253 600843 objectId:480 HGNC:8534 "ENST00000263314.3|NM_002559.5" -HGNC:8535 P2RX4 purinergic receptor P2X 4 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 P2X4 purinergic receptor P2X, ligand-gated ion channel, 4 Purinergic receptors P2X 214 1997-10-09 2016-02-05 2023-03-15 5025 ENSG00000135124 OTTHUMG00000169155 uc001tzr.4 Y07684 NM_175567 "CCDS58282|CCDS9214" Q99571 9016352 MGI:1338859 RGD:62073 600846 objectId:481 HGNC:8535 "ENST00000337233.9|NM_002560.3" -HGNC:8536 P2RX5 purinergic receptor P2X 5 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "P2X5|LRH-1" purinergic receptor P2X, ligand-gated ion channel, 5 "Purinergic receptors P2X|Minor histocompatibility antigens" "214|870" 1998-05-14 2016-02-05 2023-03-15 5026 ENSG00000083454 OTTHUMG00000090700 uc002fwi.4 AF016709 "NM_002561|NM_175080|NM_175081" "CCDS11035|CCDS56015|CCDS11034|CCDS56014" Q93086 9414125 MGI:2137026 RGD:620256 602836 objectId:482 HGNC:8536 "ENST00000225328.10|NM_002561.4" +HGNC:8535 P2RX4 purinergic receptor P2X 4 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 P2X4 purinergic receptor P2X, ligand-gated ion channel, 4 Purinergic receptors P2X 214 1997-10-09 2016-02-05 2023-03-15 5025 ENSG00000135124 OTTHUMG00000169155 uc001tzr.4 Y07684 NM_175567 "CCDS9214|CCDS58282" Q99571 9016352 MGI:1338859 RGD:62073 600846 objectId:481 HGNC:8535 "ENST00000337233.9|NM_002560.3" +HGNC:8536 P2RX5 purinergic receptor P2X 5 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "P2X5|LRH-1" purinergic receptor P2X, ligand-gated ion channel, 5 "Purinergic receptors P2X|Minor histocompatibility antigens" "214|870" 1998-05-14 2016-02-05 2023-03-15 5026 ENSG00000083454 OTTHUMG00000090700 uc002fwi.4 AF016709 "NM_002561|NM_175080|NM_175081" "CCDS11034|CCDS11035|CCDS56014|CCDS56015" Q93086 9414125 MGI:2137026 RGD:620256 602836 objectId:482 HGNC:8536 "ENST00000225328.10|NM_002561.4" HGNC:49191 P2RX5-TAX1BP3 P2RX5-TAX1BP3 readthrough (NMD candidate) other readthrough Approved 17p13.2 17p13.2 2013-09-25 2013-09-25 100533970 ENSG00000257950 OTTHUMG00000169623 NR_037928 HGNC:49191 HGNC:8538 P2RX6 purinergic receptor P2X 6 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "P2XM|MGC129625|P2X6" P2RXL1 "purinergic receptor P2X-like 1, orphan receptor|purinergic receptor P2X, ligand-gated ion channel, 6" Purinergic receptors P2X 214 1999-02-24 2008-03-28 2016-02-05 2023-01-20 9127 ENSG00000099957 OTTHUMG00000150689 uc010gsu.2 NM_005446 "CCDS13788|CCDS54504" O15547 "9242461|10591208|8786426" MGI:1337113 RGD:3243 608077 objectId:483 HGNC:8538 "ENST00000413302.7|NM_005446.5" HGNC:34076 P2RX6P purinergic receptor P2X 6 pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 purinergic receptor P2X, ligand-gated ion channel, 6 pseudogene 2008-04-16 2016-02-05 2016-02-05 440799 ENSG00000206145 OTTHUMG00000150898 NR_002829 HGNC:34076 @@ -24558,20 +24560,20 @@ HGNC:8540 P2RY11 purinergic receptor P2Y11 protein-coding gene gene with protein HGNC:18124 P2RY12 purinergic receptor P2Y12 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "P2Y12|SP1999|HORK3" purinergic receptor P2Y, G-protein coupled, 12 P2Y receptors 213 2002-12-10 2016-02-05 2023-01-20 64805 ENSG00000169313 OTTHUMG00000159863 uc003eyx.3 AJ320495 NM_022788 Q9H244 "11502873|11104774" MGI:1918089 RGD:621681 LRG_569|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_569.xml 600515 124046 objectId:328 HGNC:18124 "ENST00000302632.4|NM_022788.5" HGNC:18124 HGNC:4537 P2RY13 purinergic receptor P2Y13 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "FKSG77|P2Y13" "GPR94|GPR86" "G protein-coupled receptor 86|purinergic receptor P2Y, G-protein coupled, 13" P2Y receptors 213 2000-05-23 2004-07-14 2016-02-05 2023-01-20 53829 ENSG00000181631 OTTHUMG00000155745 uc003eyv.3 AF295368 NM_023914 CCDS3158 Q9BPV8 "11273702|11574155" MGI:1921441 RGD:1302941 606380 objectId:329 HGNC:4537 "ENST00000325602.6|NM_176894.3" HGNC:16442 P2RY14 purinergic receptor P2Y14 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 KIAA0001 GPR105 "G protein-coupled receptor 105|purinergic receptor P2Y, G-protein coupled, 14" P2Y receptors 213 2001-09-27 2004-07-14 2016-02-05 2023-01-20 9934 ENSG00000174944 OTTHUMG00000159859 uc003eys.2 D13626 NM_014879 CCDS3156 Q15391 MGI:2155705 RGD:70912 610116 objectId:330 HGNC:16442 "ENST00000309170.8|NM_014879.4" -HGNC:19316 P3H1 prolyl 3-hydroxylase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "GROS1|LEPRECAN|MGC117314" "growth suppressor 1|procollagen-proline 3-dioxygenase" LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 Prolyl 3-hydroxylase family 1925 2002-10-03 2014-12-12 2014-12-12 2023-01-20 64175 ENSG00000117385 OTTHUMG00000007525 AK027648 NM_022356 "CCDS53307|CCDS472|CCDS57986" Q32P28 10951563 MGI:1888921 RGD:628823 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=LEPRE1|LRG_5|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_5.xml" 610339 138843 1.14.11.7 HGNC:19316 "ENST00000296388.10|NM_022356.4" HGNC:19316 -HGNC:19317 P3H2 prolyl 3-hydroxylase 2 protein-coding gene gene with protein product Approved 3q28 03q28 "FLJ10718|MLAT4" procollagen-proline 3-dioxygenase 2 LEPREL1 leprecan-like 1 Prolyl 3-hydroxylase family 1925 2004-05-12 2014-12-12 2014-12-12 2023-01-20 55214 ENSG00000090530 OTTHUMG00000156312 NM_018192 "CCDS3294|CCDS46981" Q8IVL5 "15063763|21885030" MGI:2146663 RGD:1304568 610341 289488 1.14.11.7 HGNC:19317 "ENST00000319332.10|NM_018192.4" HGNC:19317 +HGNC:19316 P3H1 prolyl 3-hydroxylase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "GROS1|LEPRECAN|MGC117314" "growth suppressor 1|procollagen-proline 3-dioxygenase" LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 Prolyl 3-hydroxylase family 1925 2002-10-03 2014-12-12 2014-12-12 2023-01-20 64175 ENSG00000117385 OTTHUMG00000007525 AK027648 NM_022356 "CCDS53307|CCDS57986|CCDS472" Q32P28 10951563 MGI:1888921 RGD:628823 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=LEPRE1|LRG_5|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_5.xml" 610339 138843 1.14.11.7 HGNC:19316 "ENST00000296388.10|NM_022356.4" HGNC:19316 +HGNC:19317 P3H2 prolyl 3-hydroxylase 2 protein-coding gene gene with protein product Approved 3q28 03q28 "FLJ10718|MLAT4" procollagen-proline 3-dioxygenase 2 LEPREL1 leprecan-like 1 Prolyl 3-hydroxylase family 1925 2004-05-12 2014-12-12 2014-12-12 2023-01-20 55214 ENSG00000090530 OTTHUMG00000156312 NM_018192 "CCDS46981|CCDS3294" Q8IVL5 "15063763|21885030" MGI:2146663 RGD:1304568 610341 289488 1.14.11.7 HGNC:19317 "ENST00000319332.10|NM_018192.4" HGNC:19317 HGNC:40886 P3H2-AS1 P3H2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 LEPREL1-AS1 LEPREL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2014-12-12 2014-12-12 2021-08-12 101929152 ENSG00000225764 OTTHUMG00000156311 NR_126419 P3H2-AS1 HGNC:40886 HGNC:19318 P3H3 prolyl 3-hydroxylase 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "GRCB|HSU47926" procollagen-proline 3-dioxygenase LEPREL2 leprecan-like 2 Prolyl 3-hydroxylase family 1925 2004-05-12 2014-12-12 2014-12-12 2023-01-20 10536 ENSG00000110811 OTTHUMG00000168516 U47926 NM_014262 CCDS61027 Q8IVL6 15063763 MGI:1315208 RGD:1305699 610342 1.14.11.7 HGNC:19318 "ENST00000290510.10|NM_014262.5" HGNC:16946 P3H4 prolyl 3-hydroxylase family member 4 (inactive) protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "SC65|NO55" synaptonemal complex 65 LEPREL4 "nucleolar autoantigen (55kD)|rat synaptonemal complex protein|leprecan-like 4|prolyl 3-hydroxylase family member 4 (non-enzymatic)" Prolyl 3-hydroxylase family 1925 2010-09-01 2014-12-15 2019-07-03 2023-01-20 10609 ENSG00000141696 OTTHUMG00000133501 BC001047 NM_006455 CCDS11408 Q92791 "8862517|23959653|28115524" MGI:1913430 RGD:620767 617419 HGNC:16946 "ENST00000393928.6|NM_006455.3" HGNC:53451 P3R3URF PIK3R3 upstream open reading frame protein-coding gene gene with protein product Approved 1p34.1 01p34.1 PIK3R3 upstream reading frame 2018-11-23 2021-03-11 2023-03-08 110117498 ENSG00000250719 OTTHUMG00000007603 NM_001328655 CCDS85970 A0A087WWA1 MGI:1914573 RGD:6491750 HGNC:53451 "ENST00000506599.2|NM_001328655.2" HGNC:54999 P3R3URF-PIK3R3 P3R3URF-PIK3R3 readthrough other readthrough Approved 1p34.1 01p34.1 2020-05-19 2023-03-15 110117499 ENSG00000278139 NM_001303427 HGNC:8546 P4HA1 prolyl 4-hydroxylase subunit alpha 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 C-P4Halpha(I) collagen prolyl 4-hydroxylase alpha(I) P4HA "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I|prolyl 4-hydroxylase, alpha polypeptide I" 1999-02-23 2016-01-27 2023-01-20 5033 ENSG00000122884 OTTHUMG00000018449 uc057tzf.1 NM_000917 "CCDS7320|CCDS44432|CCDS41537" P13674 2556027 MGI:97463 RGD:621000 176710 1.14.11.2 HGNC:8546 "ENST00000394890.7|NM_001017962.3" -HGNC:8547 P4HA2 prolyl 4-hydroxylase subunit alpha 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "C-P4Halpha(II)|lncRNA-PE" "4-PH alpha 2|collagen prolyl 4-hydroxylase alpha(II)|lncRNA promotes epithelial-mesenchymal transition" "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II|prolyl 4-hydroxylase, alpha polypeptide II" MicroRNA protein coding host genes 1691 1999-02-23 2016-01-27 2023-01-20 8974 ENSG00000072682 OTTHUMG00000059647 uc063gtw.1 U90441 NM_004199 "CCDS4151|CCDS34230" O15460 "9211872|9149945" MGI:894286 RGD:1309673 600608 1.14.11.2 HGNC:8547 "ENST00000360568.8|NM_001017974.2" HGNC:8547 +HGNC:8547 P4HA2 prolyl 4-hydroxylase subunit alpha 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "C-P4Halpha(II)|lncRNA-PE" "4-PH alpha 2|collagen prolyl 4-hydroxylase alpha(II)|lncRNA promotes epithelial-mesenchymal transition" "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II|prolyl 4-hydroxylase, alpha polypeptide II" MicroRNA protein coding host genes 1691 1999-02-23 2016-01-27 2023-01-20 8974 ENSG00000072682 OTTHUMG00000059647 uc063gtw.1 U90441 NM_004199 "CCDS34230|CCDS4151" O15460 "9211872|9149945" MGI:894286 RGD:1309673 600608 1.14.11.2 HGNC:8547 "ENST00000360568.8|NM_001017974.2" HGNC:8547 HGNC:43560 P4HA2-AS1 P4HA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 P4HA2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-07 2012-08-15 2012-10-12 100861518 ENSG00000237714 OTTHUMG00000059643 uc032vkt.2 BG772701 NR_047470 P4HA2-AS1 HGNC:43560 -HGNC:30135 P4HA3 prolyl 4-hydroxylase subunit alpha 3 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 C-P4Halpha(III) collagen prolyl 4-hydroxylase alpha(III) "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III|prolyl 4-hydroxylase, alpha polypeptide III" 2004-05-12 2016-01-27 2023-01-20 283208 ENSG00000149380 OTTHUMG00000165254 uc001ouz.5 AY327887 NM_182904 "CCDS73347|CCDS8230" Q7Z4N8 14500733 MGI:2444049 RGD:735150 608987 HGNC:30135 "ENST00000331597.9|NM_182904.5" +HGNC:30135 P4HA3 prolyl 4-hydroxylase subunit alpha 3 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 C-P4Halpha(III) collagen prolyl 4-hydroxylase alpha(III) "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III|prolyl 4-hydroxylase, alpha polypeptide III" 2004-05-12 2016-01-27 2023-01-20 283208 ENSG00000149380 OTTHUMG00000165254 uc001ouz.5 AY327887 NM_182904 "CCDS8230|CCDS73347" Q7Z4N8 14500733 MGI:2444049 RGD:735150 608987 HGNC:30135 "ENST00000331597.9|NM_182904.5" HGNC:53160 P4HA3-AS1 P4HA3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2017-03-03 2017-03-03 101928580 ENSG00000246211 OTTHUMG00000168131 BC048427 NR_120556 28235564 HGNC:53160 HGNC:8548 P4HB prolyl 4-hydroxylase subunit beta protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "PDIA1|PROHB|DSI|GIT|PDI|PO4HB|P4Hbeta" "protein disulfide isomerase-associated 1|protein disulfide isomerase family A, member 1|collagen prolyl 4-hydroxylase beta" "PO4DB|ERBA2L" "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide|prolyl 4-hydroxylase, beta polypeptide" Protein disulfide isomerases 692 1986-01-01 2016-01-27 2023-01-20 5034 ENSG00000185624 OTTHUMG00000150269 uc002kbn.2 J02783 NM_000918 CCDS11787 P07237 8111381 MGI:97464 RGD:3244 176790 426000 "1.14.11.2|5.3.4.1" HGNC:8548 "ENST00000331483.9|NM_000918.4" HGNC:8548 -HGNC:28858 P4HTM prolyl 4-hydroxylase, transmembrane protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "P4H-TM|PHD4|PH4|HIFPH4|FLJ20262|EGLN4|PH-4" "Prolyl hydroxlase domain-containing 4|hypoxia inducible factor prolyl 4 hydroxylase" prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 2008-12-08 2016-05-03 2023-01-20 54681 ENSG00000178467 OTTHUMG00000074057 uc003cvh.4 NM_177938 "CCDS43089|CCDS2781" Q9NXG6 "12163023|17726031" MGI:1921693 RGD:1311848 614584 470826 HGNC:28858 "ENST00000383729.9|NM_177939.3" HGNC:28858 +HGNC:28858 P4HTM prolyl 4-hydroxylase, transmembrane protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "P4H-TM|PHD4|PH4|HIFPH4|FLJ20262|EGLN4|PH-4" "Prolyl hydroxlase domain-containing 4|hypoxia inducible factor prolyl 4 hydroxylase" prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 2008-12-08 2016-05-03 2023-01-20 54681 ENSG00000178467 OTTHUMG00000074057 uc003cvh.4 NM_177938 "CCDS2781|CCDS43089" Q9NXG6 "12163023|17726031" MGI:1921693 RGD:1311848 614584 470826 HGNC:28858 "ENST00000383729.9|NM_177939.3" HGNC:28858 HGNC:8550 PA2G4 proliferation-associated 2G4 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "EBP1|ITAF45" "ErbB-3 receptor binding protein|IRES-specific cellular transacting factor 45" "proliferation-associated 2G4, 38kD|proliferation-associated 2G4, 38kDa" M24 metallopeptidase family 1442 1996-10-26 2015-11-09 2023-01-26 5036 ENSG00000170515 OTTHUMG00000170173 uc001sjm.4 "U59435|BC007561" NM_006191 CCDS8902 Q9UQ80 "9345902|17765895|32952126" MGI:894684 RGD:1302994 602145 M24.973 HGNC:8550 "ENST00000303305.11|NM_006191.3" HGNC:8551 PA2G4P1 proliferation-associated 2G4 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 PA2G4P proliferation-associated 2G4 pseudogene 1996-10-26 2010-04-16 2010-04-16 2014-11-19 389884 ENSG00000237828 OTTHUMG00000022307 NG_005879 9345902 PGOHUM00000241521 HGNC:8551 HGNC:16531 PA2G4P2 proliferation-associated 2G4 pseudogene 2 pseudogene pseudogene Approved 20p12.1 20p12.1 "bA102J14.2|PA2G4L5" 2001-09-17 2016-07-22 170533 ENSG00000235698 OTTHUMG00000031893 AL136460 NG_001046 9345902 PGOHUM00000297053 HGNC:16531 @@ -24579,10 +24581,10 @@ HGNC:31731 PA2G4P3 proliferation-associated 2G4 pseudogene 3 pseudogene pseudoge HGNC:32217 PA2G4P4 proliferation-associated 2G4 pseudogene 4 pseudogene pseudogene Approved 3q25.31 03q25.31 PA2G4L1 2005-09-13 2014-11-19 647033 ENSG00000230457 OTTHUMG00000158644 NR_003284 9345902 PGOHUM00000237834 HGNC:32217 HGNC:32218 PA2G4P5 proliferation-associated 2G4 pseudogene 5 pseudogene pseudogene Approved 6q21 06q21 PA2G4L2 2005-09-13 2020-04-06 389424 ENSG00000225580 OTTHUMG00000015394 NG_005878 9345902 PGOHUM00000301513 HGNC:32218 HGNC:32219 PA2G4P6 proliferation-associated 2G4 pseudogene 6 pseudogene pseudogene Approved 9q22.2 09q22.2 PA2G4L3 2005-09-13 2016-11-02 646083 ENSG00000231799 OTTHUMG00000020186 NG_005882 9345902 PGOHUM00000304372 HGNC:32219 -HGNC:25687 PAAF1 proteasomal ATPase associated factor 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FLJ11848|Rpn14" WDR71 WD repeat domain 71 WD repeat domain containing 362 2005-05-26 2007-08-16 2015-11-23 2023-01-20 80227 ENSG00000175575 OTTHUMG00000168062 uc001ouk.3 BC006142 NM_025155 "CCDS58157|CCDS8226|CCDS86227|CCDS58158" Q9BRP4 "15831487|17317272|17289585" 619772 HGNC:25687 "ENST00000310571.8|NM_025155.3" +HGNC:25687 PAAF1 proteasomal ATPase associated factor 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FLJ11848|Rpn14" WDR71 WD repeat domain 71 WD repeat domain containing 362 2005-05-26 2007-08-16 2015-11-23 2023-01-20 80227 ENSG00000175575 OTTHUMG00000168062 uc001ouk.3 BC006142 NM_025155 "CCDS8226|CCDS58157|CCDS58158|CCDS86227" Q9BRP4 "15831487|17317272|17289585" 619772 HGNC:25687 "ENST00000310571.8|NM_025155.3" HGNC:23490 PABIR1 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 MGC17347 "C9orf42|FAM122A" "chromosome 9 open reading frame 42|family with sequence similarity 122A" 2003-11-20 2020-10-09 2020-10-09 2023-01-20 116224 ENSG00000187866 OTTHUMG00000019971 uc004agw.2 AK126379 NM_138333 CCDS6623 Q96E09 "25735772|27588481|33108758" MGI:1915284 RGD:1310316 617249 HGNC:23490 "ENST00000394264.7|NM_138333.5" -HGNC:30490 PABIR2 PABIR family member 2 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "DKFZp686L20116|RP11-308B5.5" FAM122B family with sequence similarity 122B 2006-07-11 2020-10-09 2020-10-09 2023-01-20 159090 ENSG00000156504 OTTHUMG00000022461 uc004exr.4 BX538218 NM_145284 "CCDS94668|CCDS55498|CCDS55497|CCDS14643|CCDS55499" Q7Z309 12477932 MGI:1926005 RGD:1560129 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM122B HGNC:30490 "ENST00000343004.10|NM_001387468.1" -HGNC:25202 PABIR3 PABIR family member 3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 RP3-473B4.1 FAM122C family with sequence similarity 122C 2006-07-11 2020-10-09 2020-10-09 2023-01-20 159091 ENSG00000156500 OTTHUMG00000022716 uc004exy.3 BC017868 NM_138819 "CCDS94674|CCDS94673|CCDS76028|CCDS94672|CCDS55500|CCDS94671|CCDS87777|CCDS55501|CCDS14644|CCDS94669" Q6P4D5 12477932 MGI:1921116 RGD:1590266 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM122C HGNC:25202 "ENST00000645433.2|NM_001388447.1" +HGNC:30490 PABIR2 PABIR family member 2 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "DKFZp686L20116|RP11-308B5.5" FAM122B family with sequence similarity 122B 2006-07-11 2020-10-09 2020-10-09 2023-01-20 159090 ENSG00000156504 OTTHUMG00000022461 uc004exr.4 BX538218 NM_145284 "CCDS14643|CCDS55499|CCDS94668|CCDS55498|CCDS55497" Q7Z309 12477932 MGI:1926005 RGD:1560129 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM122B HGNC:30490 "ENST00000343004.10|NM_001387468.1" +HGNC:25202 PABIR3 PABIR family member 3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 RP3-473B4.1 FAM122C family with sequence similarity 122C 2006-07-11 2020-10-09 2020-10-09 2023-01-20 159091 ENSG00000156500 OTTHUMG00000022716 uc004exy.3 BC017868 NM_138819 "CCDS14644|CCDS55501|CCDS87777|CCDS76028|CCDS94671|CCDS94674|CCDS94672|CCDS94669|CCDS94673|CCDS55500" Q6P4D5 12477932 MGI:1921116 RGD:1590266 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM122C HGNC:25202 "ENST00000645433.2|NM_001388447.1" HGNC:8554 PABPC1 poly(A) binding protein cytoplasmic 1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "PABP1|PABPL1" "PAB1|PABPC2" poly(A)-binding protein, cytoplasmic 2 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 1992-09-28 2016-03-30 2023-01-20 26986 ENSG00000070756 OTTHUMG00000164779 uc003yjs.2 Y00345 NM_002568 CCDS6289 P11940 2885805 MGI:1349722 RGD:619838 604679 HGNC:8554 "ENST00000318607.10|NM_002568.4" HGNC:15797 PABPC1L poly(A) binding protein cytoplasmic 1 like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ1069P2.3|PABPC1L1|ePAB" C20orf119 "chromosome 20 open reading frame 119|poly(A) binding protein, cytoplasmic 1-like" RNA binding motif containing 725 2001-10-29 2007-11-21 2016-03-30 2023-01-20 80336 ENSG00000101104 OTTHUMG00000032553 uc010ggv.1 AK026760 NM_001372179 CCDS42878 Q4VXU2 11549316 MGI:1922908 RGD:1563142 HGNC:15797 "ENST00000217073.7|NM_001372179.1" HGNC:27989 PABPC1L2A poly(A) binding protein cytoplasmic 1 like 2A protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 RBM32A "RNA binding motif protein 32A|poly(A) binding protein, cytoplasmic 1-like 2A" RNA binding motif containing 725 2007-02-13 2007-11-21 2016-03-30 2023-01-20 340529 ENSG00000186288 OTTHUMG00000021824 uc004ebg.3 BC041956 NM_001012977 CCDS35334 Q5JQF8 12477932 MGI:3644774 RGD:1566367 HGNC:27989 "ENST00000373519.1|NM_001012977.3" @@ -24602,12 +24604,12 @@ HGNC:37993 PABPC1P11 poly(A) binding protein cytoplasmic 1 pseudogene 11 pseudog HGNC:37994 PABPC1P12 poly(A) binding protein cytoplasmic 1 pseudogene 12 pseudogene pseudogene Approved 10p11.1 10p11.1 poly(A) binding protein, cytoplasmic 1 pseudogene 12 2010-03-17 2016-03-30 2016-03-30 100129604 ENSG00000225638 OTTHUMG00000018002 NG_022171 PGOHUM00000238742 HGNC:37994 HGNC:37995 PABPC1P13 poly(A) binding protein cytoplasmic 1 pseudogene 13 pseudogene pseudogene Approved 16p11.2 16p11.2 poly(A) binding protein, cytoplasmic 1 pseudogene 13 2010-03-17 2016-03-30 2017-10-30 644758 ENSG00000260307 OTTHUMG00000176497 NG_006145 PGOHUM00000293529 HGNC:37995 HGNC:8556 PABPC3 poly(A) binding protein cytoplasmic 3 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "PABP3|tPABP" testis PABP PABPL3 poly(A)-binding protein, cytoplasmic 3 RNA binding motif containing 725 1993-06-25 2016-03-30 2023-01-20 5042 ENSG00000151846 OTTHUMG00000016601 uc001upy.4 AF132026 NM_030979 CCDS9311 Q9H361 "8432538|10543404" MGI:1349722 RGD:1311201 604680 HGNC:8556 "ENST00000281589.5|NM_030979.3" -HGNC:8557 PABPC4 poly(A) binding protein cytoplasmic 4 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "iPABP|APP-1" "activated-platelet protein 1|Inducible poly(A)-binding protein" "poly(A)-binding protein, cytoplasmic 4 (inducible form)|poly(A) binding protein, cytoplasmic 4 (inducible form)" "RNA binding motif containing|Small nucleolar RNA protein coding host genes" "725|1835" 1999-12-17 2016-03-30 2023-01-20 8761 ENSG00000090621 OTTHUMG00000009097 uc001cdm.3 U33818 NM_001135653 "CCDS44115|CCDS44114|CCDS438" Q13310 10543404 MGI:2385206 RGD:1305015 603407 HGNC:8557 "ENST00000372858.8|NM_001135653.2" +HGNC:8557 PABPC4 poly(A) binding protein cytoplasmic 4 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "iPABP|APP-1" "activated-platelet protein 1|Inducible poly(A)-binding protein" "poly(A)-binding protein, cytoplasmic 4 (inducible form)|poly(A) binding protein, cytoplasmic 4 (inducible form)" "RNA binding motif containing|Small nucleolar RNA protein coding host genes" "725|1835" 1999-12-17 2016-03-30 2023-01-20 8761 ENSG00000090621 OTTHUMG00000009097 uc001cdm.3 U33818 NM_001135653 "CCDS44115|CCDS438|CCDS44114" Q13310 10543404 MGI:2385206 RGD:1305015 603407 HGNC:8557 "ENST00000372858.8|NM_001135653.2" HGNC:40424 PABPC4-AS1 PABPC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 Antisense RNAs 1987 2018-09-26 2018-09-26 101929516 ENSG00000228060 OTTHUMG00000009098 NR_125979 HGNC:40424 HGNC:31955 PABPC4L poly(A) binding protein cytoplasmic 4 like protein-coding gene gene with protein product Approved 4q28.3 04q28.3 poly(A) binding protein, cytoplasmic 4-like RNA binding motif containing 725 2005-04-11 2016-03-30 2023-01-20 132430 ENSG00000254535 OTTHUMG00000161292 uc010ioe.4 AY672099 NM_001114734 CCDS47135 P0CB38 MGI:3643087 RGD:1559517 HGNC:31955 "ENST00000421491.4|NM_001114734.2" HGNC:13629 PABPC5 poly(A) binding protein cytoplasmic 5 protein-coding gene gene with protein product Approved Xq21.31 Xq21.31 PABP5 poly(A)-binding protein, cytoplasmic 5 RNA binding motif containing 725 2002-02-14 2016-03-30 2023-01-20 140886 ENSG00000174740 OTTHUMG00000021959 uc004efg.4 AJ278963 NM_080832 CCDS14460 Q96DU9 11374897 MGI:2136401 RGD:1587661 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PABPC5 300407 HGNC:13629 "ENST00000312600.4|NM_080832.3" HGNC:13629 HGNC:31845 PABPC5-AS1 PABPC5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq21.31 Xq21.31 OTTHUMG00000021960 CXorf46 "chromosome X open reading frame 46|PABPC5 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2006-06-30 2011-04-28 2012-08-15 2020-04-20 102724167 ENSG00000234161 OTTHUMG00000021960 uc065aep.1 NR_110659 PABPC5-AS1 HGNC:31845 -HGNC:8565 PABPN1 poly(A) binding protein nuclear 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 PAB2 "OPMD|PABP2" "poly(A)-binding protein, nuclear 1|poly(A) binding protein, nuclear 1" RNA binding motif containing 725 1995-05-01 2016-03-30 2023-01-20 8106 ENSG00000100836 OTTHUMG00000028739 uc001wjk.4 AF026029 NM_004643 "CCDS9592|CCDS86374|CCDS86375" Q86U42 7795598 MGI:1859158 RGD:619928 602279 124051 HGNC:8565 "ENST00000216727.9|NM_004643.4" HGNC:8565 +HGNC:8565 PABPN1 poly(A) binding protein nuclear 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 PAB2 "OPMD|PABP2" "poly(A)-binding protein, nuclear 1|poly(A) binding protein, nuclear 1" RNA binding motif containing 725 1995-05-01 2016-03-30 2023-01-20 8106 ENSG00000100836 OTTHUMG00000028739 uc001wjk.4 AF026029 NM_004643 "CCDS86374|CCDS9592|CCDS86375" Q86U42 7795598 MGI:1859158 RGD:619928 602279 124051 HGNC:8565 "ENST00000216727.9|NM_004643.4" HGNC:8565 HGNC:37237 PABPN1L PABPN1 like, cytoplasmic protein-coding gene gene with protein product Approved 16q24.3 16q24.3 ePABP2 embryonic poly(A) binding protein 2 "poly(A) binding protein nuclear 1 like (cytoplasmic)|poly(A) binding protein nuclear 1 like, cytoplasmic" RNA binding motif containing 725 2009-12-16 2019-07-03 2023-01-20 390748 ENSG00000205022 OTTHUMG00000170127 uc010vpe.3 NM_001080487 "CCDS73925|CCDS45547" A6NDY0 18483763 MGI:2685954 RGD:1562761 HGNC:37237 "ENST00000419291.7|NM_001080487.4" HGNC:54988 PABPN1P1 PABPN1 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-15 2020-05-15 100420758 ENSG00000213018 NG_026717 HGNC:54989 PABPN1P2 PABPN1 pseudogene 2 pseudogene pseudogene Approved 19q13.41 19q13.41 2020-05-15 2020-05-15 100420798 ENSG00000255875 NG_024278 @@ -24615,13 +24617,13 @@ HGNC:8566 PABX pseudoautosomal boundary region, X-linked other region Approved X HGNC:8567 PABY pseudoautosomal boundary region, Y-linked other region Approved Yp11.3 Yp11.3 1989-06-30 2019-10-10 5044 HGNC:25593 PACC1 proton activated chloride channel 1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "FLJ10874|PAC|ASOR|PAORAC" acid-sensitive outwardly rectifying channel "C1orf75|TMEM206" "chromosome 1 open reading frame 75|transmembrane protein 206" 2005-05-19 2019-04-25 2019-04-25 2023-01-20 55248 ENSG00000065600 OTTHUMG00000036751 uc001hjc.5 AK024066 NM_018252 "CCDS1504|CCDS55687" Q9H813 "30417481|31318332" MGI:1914200 RGD:1359339 618427 HGNC:25593 "ENST00000261455.9|NM_018252.3" HGNC:50552 PACERR PTGS2 antisense NFKB1 complex-mediated expression regulator RNA non-coding RNA RNA, long non-coding Approved 1q31.1 01q31.1 "PACER|PTGS2-AS1" "p50-associated COX-2 extragenic RNA|PTGS2 antisense RNA 1 (head to head)" Long non-coding RNAs with non-systematic symbols 1992 2014-06-04 2018-09-07 103752588 ENSG00000273129 OTTHUMG00000186484 "DA380694|BU733503" NR_125801 24843008 617650 PACERR HGNC:50552 -HGNC:19152 PACRG parkin coregulated protein-coding gene gene with protein product Approved 6q26 06q26 "PARK2CRG|FLJ32724|Glup|HAK005771" PARK2 coregulated Armadillo like helical domain containing 1492 2003-06-25 2017-02-09 2023-01-20 135138 ENSG00000112530 OTTHUMG00000016116 uc003qub.3 AK057286 NM_152410 "CCDS5284|CCDS43524" Q96M98 12547187 MGI:1916560 RGD:1561027 608427 HGNC:19152 "ENST00000366888.7|NM_001080379.2" +HGNC:19152 PACRG parkin coregulated protein-coding gene gene with protein product Approved 6q26 06q26 "PARK2CRG|FLJ32724|Glup|HAK005771" PARK2 coregulated Armadillo like helical domain containing 1492 2003-06-25 2017-02-09 2023-01-20 135138 ENSG00000112530 OTTHUMG00000016116 uc003qub.3 AK057286 NM_152410 "CCDS43524|CCDS5284" Q96M98 12547187 MGI:1916560 RGD:1561027 608427 HGNC:19152 "ENST00000366888.7|NM_001080379.2" HGNC:27772 PACRG-AS1 PACRG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q26 06q26 PACRG antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-29 2012-08-15 2015-10-15 285796 ENSG00000281692 OTTHUMG00000189584 uc011egh.3 NR_028390 PACRG-AS1 HGNC:27772 HGNC:40871 PACRG-AS2 PACRG antisense RNA 2 non-coding RNA RNA, long non-coding Approved 6q26 06q26 Antisense RNAs 1987 2015-10-15 2015-10-15 101929239 ENSG00000225437 OTTHUMG00000015973 NR_110871 PACRG-AS2 HGNC:40871 HGNC:52053 PACRG-AS3 PACRG antisense RNA 3 non-coding RNA RNA, long non-coding Approved 6q26 06q26 Antisense RNAs 1987 2015-10-15 2015-10-15 2017-03-10 729658 ENSG00000225683 OTTHUMG00000187105 NR_122120 PACRG-AS3 HGNC:52053 -HGNC:28442 PACRGL parkin coregulated like protein-coding gene gene with protein product Approved 4p15.31 04p15.31 MGC29898 C4orf28 "chromosome 4 open reading frame 28|PARK2 coregulated like" Armadillo like helical domain containing 1492 2006-07-05 2008-10-02 2017-05-02 2023-01-20 133015 ENSG00000163138 OTTHUMG00000128550 uc010iek.4 AK098692 NM_145048 "CCDS58895|CCDS47034|CCDS3427|CCDS58896|CCDS82912" Q8N7B6 12477932 MGI:1914018 RGD:1311045 HGNC:28442 "ENST00000503585.6|NM_001258345.3" +HGNC:28442 PACRGL parkin coregulated like protein-coding gene gene with protein product Approved 4p15.31 04p15.31 MGC29898 C4orf28 "chromosome 4 open reading frame 28|PARK2 coregulated like" Armadillo like helical domain containing 1492 2006-07-05 2008-10-02 2017-05-02 2023-01-20 133015 ENSG00000163138 OTTHUMG00000128550 uc010iek.4 AK098692 NM_145048 "CCDS58896|CCDS58895|CCDS82912|CCDS3427|CCDS47034" Q8N7B6 12477932 MGI:1914018 RGD:1311045 HGNC:28442 "ENST00000503585.6|NM_001258345.3" HGNC:30032 PACS1 phosphofurin acidic cluster sorting protein 1 protein-coding gene gene with protein product Approved 11q13.1-q13.2 11q13.1-q13.2 "FLJ10209|KIAA1175" 2005-01-05 2023-01-20 55690 ENSG00000175115 OTTHUMG00000166889 uc001oha.3 AB033001 NM_018026 CCDS8129 Q6VY07 "12855553|14608369" MGI:1277113 RGD:620579 607492 331697 HGNC:30032 "ENST00000320580.9|NM_018026.4" HGNC:30032 -HGNC:23794 PACS2 phosphofurin acidic cluster sorting protein 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 KIAA0602 PACS1L phosphofurin acidic cluster sorting protein 1-like 2005-01-05 2005-02-15 2005-02-15 2023-01-20 23241 ENSG00000179364 OTTHUMG00000170450 uc001yqt.4 AB011174 NM_001100913 "CCDS58339|CCDS32168|CCDS45178" Q86VP3 15692567 MGI:1924399 RGD:1597262 610423 470828 HGNC:23794 "ENST00000447393.6|NM_001100913.3" HGNC:23794 +HGNC:23794 PACS2 phosphofurin acidic cluster sorting protein 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 KIAA0602 PACS1L phosphofurin acidic cluster sorting protein 1-like 2005-01-05 2005-02-15 2005-02-15 2023-01-20 23241 ENSG00000179364 OTTHUMG00000170450 uc001yqt.4 AB011174 NM_001100913 "CCDS58339|CCDS45178|CCDS32168" Q86VP3 15692567 MGI:1924399 RGD:1597262 610423 470828 HGNC:23794 "ENST00000447393.6|NM_001100913.3" HGNC:23794 HGNC:8570 PACSIN1 protein kinase C and casein kinase substrate in neurons 1 protein-coding gene gene with protein product Approved 6p21.3 06p21.3 SDPI syndapin I F-BAR domain containing 1288 2000-02-29 2023-01-20 29993 ENSG00000124507 OTTHUMG00000014547 uc003ojo.5 AB037800 NM_001199583 Q9BY11 11179684 MGI:1345181 RGD:3247 606512 HGNC:8570 "ENST00000244458.7|NM_020804.5" HGNC:8571 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 SDPII syndapin II F-BAR domain containing 1288 1999-10-12 2023-01-20 11252 ENSG00000100266 OTTHUMG00000150701 uc003bdg.5 AF128536 NM_007229 "CCDS54536|CCDS43023" Q9UNF0 "10431838|11082044" MGI:1345153 RGD:69411 604960 HGNC:8571 "ENST00000263246.8|NM_001184970.3" HGNC:8572 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 SDPIII syndapin III "F-BAR domain containing |MicroRNA protein coding host genes" "1288|1691" 2000-02-16 2023-01-20 29763 ENSG00000165912 OTTHUMG00000166870 uc001ndx.4 AF130979 NM_016223 CCDS31481 Q9UKS6 10531379 MGI:1891410 RGD:1307327 606513 HGNC:8572 "ENST00000298838.11|NM_016223.5" @@ -24636,7 +24638,7 @@ HGNC:25459 PAF1 PAF1 homolog, Paf1/RNA polymerase II complex component protein-c HGNC:8574 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "LIS1|PAFAH|NudF" lissencephaly-1 "MDCR|MDS" "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)|Miller-Dieker syndrome chromosome region|platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa|platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)|platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)" WD repeat domain containing 362 1998-04-03 2015-11-16 2023-01-20 5048 ENSG00000007168 OTTHUMG00000177574 uc002fuw.5 L25107 NM_000430 CCDS32528 P43034 "8355785|9063735" MGI:109520 RGD:620331 601545 124062 HGNC:8574 "ENST00000397195.10|NM_000430.4" HGNC:8574 HGNC:8577 PAFAH1B1P1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 LIS2 PAFAH1P1 "platelet-activating factor acetylhydrolase, isoform Ib, pseudogene 1|platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 pseudogene 1" 1999-12-22 2009-12-02 2016-03-09 2019-10-16 7845 ENSG00000214354 AF092544 NG_003165 10575211 HGNC:8577 HGNC:8578 PAFAH1B1P2 platelet activating factor acetylhydrolase 1b regulatory subunit 1 pseudogene 2 pseudogene pseudogene Approved 2q13 02q13 LIS2P PAFAH1P2 "platelet-activating factor acetylhydrolase, isoform Ib, pseudogene 2|platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 pseudogene 2" 1999-12-22 2009-12-02 2016-03-09 2020-04-22 27002 ENSG00000223973 AF092545 NG_003167 10575211 HGNC:8578 -HGNC:8575 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 PAF-AH1b alpha 2 subunit "platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa|platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)|platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)" 1998-04-03 2015-11-16 2023-01-20 5049 ENSG00000168092 OTTHUMG00000167064 uc001pqe.4 D63390 NM_002572 "CCDS53713|CCDS8380|CCDS53714|CCDS53715" P68402 "9144386|9693049" MGI:108415 RGD:620332 PAFAH1B2 602508 HGNC:8575 "ENST00000527958.6|NM_002572.4" +HGNC:8575 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 PAF-AH1b alpha 2 subunit "platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa|platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)|platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)" 1998-04-03 2015-11-16 2023-01-20 5049 ENSG00000168092 OTTHUMG00000167064 uc001pqe.4 D63390 NM_002572 "CCDS53714|CCDS53713|CCDS8380|CCDS53715" P68402 "9144386|9693049" MGI:108415 RGD:620332 PAFAH1B2 602508 HGNC:8575 "ENST00000527958.6|NM_002572.4" HGNC:54905 PAFAH1B2P1 PAFAH1B2 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-22 2020-04-22 2020-04-22 2020-04-22 139957 ENSG00000214111 NG_006977 HGNC:54906 PAFAH1B2P2 PAFAH1B2 pseudogene 2 pseudogene pseudogene Approved 12q23.1 12q23.1 2020-04-22 2020-04-22 643711 ENSG00000257501 NR_077240 HGNC:8576 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 protein-coding gene gene with protein product Approved 19q13.1 19q13.1 PAF-AH1b alpha 1 subunit "platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)|platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa|platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)|platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)" 1998-04-03 2015-11-16 2023-01-20 5050 ENSG00000079462 OTTHUMG00000182795 uc010xwi.1 D63391 NM_002573 CCDS12602 Q15102 7669037 MGI:108414 RGD:620333 603074 HGNC:8576 "ENST00000262890.8|NM_002573.4" @@ -24658,53 +24660,53 @@ HGNC:38097 PAICSP4 phosphoribosylaminoimidazole carboxylase, phosphoribosylamino HGNC:38098 PAICSP5 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 5 pseudogene pseudogene Approved 7q35 07q35 2010-04-16 2014-11-19 780811 ENSG00000229877 OTTHUMG00000155897 NG_005825 PGOHUM00000233053 HGNC:38098 HGNC:38099 PAICSP6 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 6 pseudogene pseudogene Approved 7q35 07q35 2010-04-16 2014-11-19 780812 ENSG00000241136 OTTHUMG00000157767 NG_005826 PGOHUM00000250973 HGNC:38099 HGNC:38100 PAICSP7 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 7 pseudogene pseudogene Approved Xq21.33 Xq21.33 2010-04-16 2016-10-05 780816 ENSG00000232293 OTTHUMG00000021977 NG_005830 PGOHUM00000250055 HGNC:38100 -HGNC:16945 PAIP1 poly(A) binding protein interacting protein 1 protein-coding gene gene with protein product Approved 5p12 05p12 PABP-interacting protein 1 MIF4G domain containing proteins 2128 2003-12-16 2023-01-20 10605 ENSG00000172239 OTTHUMG00000096960 uc003job.4 AF013758 NM_006451 "CCDS3948|CCDS47204|CCDS3947" Q9H074 "9548260|11230166" MGI:2384993 RGD:1305668 605184 HGNC:16945 "ENST00000306846.8|NM_006451.5" +HGNC:16945 PAIP1 poly(A) binding protein interacting protein 1 protein-coding gene gene with protein product Approved 5p12 05p12 PABP-interacting protein 1 MIF4G domain containing proteins 2128 2003-12-16 2023-01-20 10605 ENSG00000172239 OTTHUMG00000096960 uc003job.4 AF013758 NM_006451 "CCDS47204|CCDS3948|CCDS3947" Q9H074 "9548260|11230166" MGI:2384993 RGD:1305668 605184 HGNC:16945 "ENST00000306846.8|NM_006451.5" HGNC:18240 PAIP1P1 PAIP1 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "bQB44E15.5|bPG254M11.3|bCX300M20.3" poly(A) binding protein interacting protein 1 pseudogene 1 2003-12-16 2022-01-26 2022-01-26 100421582 ENSG00000233892 OTTHUMG00000034813 NG_025805 PGOHUM00000301319 HGNC:18240 HGNC:56189 PAIP1P2 PAIP1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2022-01-26 2022-01-26 645139 ENSG00000174977 NG_022457 PGOHUM00000294302 HGNC:17970 PAIP2 poly(A) binding protein interacting protein 2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 PAIP2A PABP-interacting protein 2 2003-12-16 2023-01-20 51247 ENSG00000120727 OTTHUMG00000129227 uc003led.5 AF151052 NM_016480 CCDS4211 Q9BPZ3 "11172725|16804161" MGI:1915119 RGD:1359176 605604 HGNC:17970 "ENST00000265192.9|NM_016480.5" HGNC:29200 PAIP2B poly(A) binding protein interacting protein 2B protein-coding gene gene with protein product Approved 2p13.3 02p13.3 KIAA1155 2007-03-26 2023-01-20 400961 ENSG00000124374 OTTHUMG00000153284 uc002shu.3 NM_020459 CCDS46322 Q9ULR5 16804161 MGI:2386865 RGD:1307930 611018 HGNC:29200 "ENST00000244221.9|NM_020459.1" -HGNC:8590 PAK1 p21 (RAC1) activated kinase 1 protein-coding gene gene with protein product Approved 11q13.5-q14.1 11q13.5-q14.1 STE20 homolog, yeast "p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)|p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)|p21 protein (Cdc42/Rac)-activated kinase 1" 1997-12-05 2016-05-03 2023-01-20 5058 ENSG00000149269 OTTHUMG00000165138 uc001oyh.5 U51120 NM_002576 "CCDS8250|CCDS91545|CCDS44687|CCDS91544" Q13153 "8805275|9533029" MGI:1339975 RGD:3250 602590 objectId:2133 2.7.11.1 HGNC:8590 "ENST00000356341.8|NM_002576.5" HGNC:8590 +HGNC:8590 PAK1 p21 (RAC1) activated kinase 1 protein-coding gene gene with protein product Approved 11q13.5-q14.1 11q13.5-q14.1 STE20 homolog, yeast "p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)|p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)|p21 protein (Cdc42/Rac)-activated kinase 1" 1997-12-05 2016-05-03 2023-01-20 5058 ENSG00000149269 OTTHUMG00000165138 uc001oyh.5 U51120 NM_002576 "CCDS8250|CCDS44687|CCDS91545|CCDS91544" Q13153 "8805275|9533029" MGI:1339975 RGD:3250 602590 objectId:2133 2.7.11.1 HGNC:8590 "ENST00000356341.8|NM_002576.5" HGNC:8590 HGNC:20882 PAK1IP1 PAK1 interacting protein 1 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "FLJ20624|hPIP1|PIP1|bA421M1.5|MAK11|WDR84" WD repeat domain containing 362 2003-06-09 2023-01-20 55003 ENSG00000111845 OTTHUMG00000014245 uc003mzg.4 AF283303 NM_017906 CCDS34339 Q9NWT1 11371639 MGI:1915333 RGD:1565353 607811 HGNC:20882 "ENST00000379568.4|NM_017906.3" HGNC:8591 PAK2 p21 (RAC1) activated kinase 2 protein-coding gene gene with protein product Approved 3q29 03q29 "PAK65|PAKgamma" S6/H4 kinase "p21 (CDKN1A)-activated kinase 2|p21 protein (Cdc42/Rac)-activated kinase 2" 1998-03-25 2016-05-03 2023-01-20 5062 ENSG00000180370 OTTHUMG00000155534 uc003fwy.4 U24153 NM_002577 CCDS3321 Q13177 "7744004|7618083" MGI:1339984 RGD:61953 605022 objectId:2134 2.7.11.1 HGNC:8591 "ENST00000327134.7|NM_002577.4" -HGNC:8592 PAK3 p21 (RAC1) activated kinase 3 protein-coding gene gene with protein product Approved Xq23 Xq23 "hPAK3|bPAK" "MRX30|MRX47" "mental retardation, X-linked 47|p21 (CDKN1A)-activated kinase 3|p21 protein (Cdc42/Rac)-activated kinase 3" 1998-03-25 2016-05-03 2023-01-20 5063 ENSG00000077264 OTTHUMG00000022202 uc010npt.2 AF068864 NM_002578 "CCDS48151|CCDS48152|CCDS48153|CCDS14554" O75914 "8826460|9731525" MGI:1339656 RGD:3251 300142 159942 objectId:2135 2.7.11.1 HGNC:8592 "ENST00000372007.10|NM_002578.5" HGNC:8592 -HGNC:16059 PAK4 p21 (RAC1) activated kinase 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "p21(CDKN1A)-activated kinase 4|p21 protein (Cdc42/Rac)-activated kinase 4" 2001-07-12 2016-05-03 2023-01-20 10298 ENSG00000130669 OTTHUMG00000182800 uc002okn.2 AJ011855 NM_001014831 "CCDS12528|CCDS33019" O96013 "9822598|10461188" MGI:1917834 RGD:1307705 605451 objectId:2136 2.7.11.1 HGNC:16059 "ENST00000360442.8|NM_005884.5" +HGNC:8592 PAK3 p21 (RAC1) activated kinase 3 protein-coding gene gene with protein product Approved Xq23 Xq23 "hPAK3|bPAK" "MRX30|MRX47" "mental retardation, X-linked 47|p21 (CDKN1A)-activated kinase 3|p21 protein (Cdc42/Rac)-activated kinase 3" 1998-03-25 2016-05-03 2023-01-20 5063 ENSG00000077264 OTTHUMG00000022202 uc010npt.2 AF068864 NM_002578 "CCDS14554|CCDS48153|CCDS48151|CCDS48152" O75914 "8826460|9731525" MGI:1339656 RGD:3251 300142 159942 objectId:2135 2.7.11.1 HGNC:8592 "ENST00000372007.10|NM_002578.5" HGNC:8592 +HGNC:16059 PAK4 p21 (RAC1) activated kinase 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "p21(CDKN1A)-activated kinase 4|p21 protein (Cdc42/Rac)-activated kinase 4" 2001-07-12 2016-05-03 2023-01-20 10298 ENSG00000130669 OTTHUMG00000182800 uc002okn.2 AJ011855 NM_001014831 "CCDS33019|CCDS12528" O96013 "9822598|10461188" MGI:1917834 RGD:1307705 605451 objectId:2136 2.7.11.1 HGNC:16059 "ENST00000360442.8|NM_005884.5" HGNC:15916 PAK5 p21 (RAC1) activated kinase 5 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 KIAA1264 PAK7 "p21(CDKN1A)-activated kinase 7|p21 protein (Cdc42/Rac)-activated kinase 7|p21 (RAC1) activated kinase 7" 2001-06-21 2016-06-06 2016-06-06 2023-01-20 57144 ENSG00000101349 OTTHUMG00000031857 uc002wnl.3 AB033090 NM_020341 CCDS13107 Q9P286 "11756552|10574462" MGI:1920334 RGD:1312009 608038 objectId:2138 2.7.11.1 HGNC:15916 "ENST00000353224.10|NM_177990.4" HGNC:16061 PAK6 p21 (RAC1) activated kinase 6 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 PAK5 "p21(CDKN1A)-activated kinase 6|p21 protein (Cdc42/Rac)-activated kinase 6" 2001-07-12 2016-05-03 2023-03-15 56924 ENSG00000137843 OTTHUMG00000129921 uc059hqb.1 AF276893 NM_001276717 CCDS61590 Q9NQU5 11278661 MGI:2679420 RGD:1306213 608110 objectId:2137 2.7.11.1 HGNC:16061 "ENST00000560346.6|NM_001395430.1" HGNC:33868 PAK6-AS1 PAK6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 FLJ38596 C15orf56 "chromosome 15 open reading frame 56|chromosome 15 putative open reading frame 56" Antisense RNAs 1987 2007-12-18 2021-02-25 2021-02-25 2023-03-15 644809 ENSG00000176753 OTTHUMG00000172399 uc001zla.3 NR_168270 Q8N910 HGNC:33868 -HGNC:26144 PALB2 partner and localizer of BRCA2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "FLJ21816|FANCN" Fanconi anemia, complementation group N "WD repeat domain containing|FA complementation groups" "362|548" 2007-01-15 2023-01-20 79728 ENSG00000083093 OTTHUMG00000177097 uc002dlx.2 NM_024675 "CCDS32406|CCDS92128" Q86YC2 "16793542|17200672" MGI:3040695 RGD:1304759 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCN|LRG_308|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_308.xml" PALB2 610355 139189 HGNC:26144 "ENST00000261584.9|NM_024675.4" HGNC:26144 +HGNC:26144 PALB2 partner and localizer of BRCA2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "FLJ21816|FANCN" Fanconi anemia, complementation group N "WD repeat domain containing|FA complementation groups" "362|548" 2007-01-15 2023-01-20 79728 ENSG00000083093 OTTHUMG00000177097 uc002dlx.2 NM_024675 "CCDS92128|CCDS32406" Q86YC2 "16793542|17200672" MGI:3040695 RGD:1304759 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCN|LRG_308|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_308.xml" PALB2 610355 139189 HGNC:26144 "ENST00000261584.9|NM_024675.4" HGNC:26144 HGNC:23530 PALD1 phosphatase domain containing paladin 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "PALD|KIAA1274" "paladin|KIAA1274|phosphatase domain containing, paladin 1" 2004-05-27 2012-07-17 2018-09-27 2023-01-20 27143 ENSG00000107719 OTTHUMG00000018411 uc001jrd.5 AB033100 NM_014431 CCDS31215 Q9ULE6 29133847 MGI:1351623 RGD:1305933 614656 HGNC:23530 "ENST00000263563.7|NM_014431.3" -HGNC:17068 PALLD palladin, cytoskeletal associated protein protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "KIAA0992|SIH002|CGI-151" I-set domain containing 593 2005-11-17 2023-01-20 23022 ENSG00000129116 OTTHUMG00000161097 uc003iru.3 AB023209 NM_016081 "CCDS34098|CCDS93667|CCDS54820|CCDS54819|CCDS54818" Q8WX93 "10231032|10931874" MGI:1919583 RGD:2322545 608092 441210 HGNC:17068 "ENST00000505667.6|NM_001166108.2" +HGNC:17068 PALLD palladin, cytoskeletal associated protein protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "KIAA0992|SIH002|CGI-151" I-set domain containing 593 2005-11-17 2023-01-20 23022 ENSG00000129116 OTTHUMG00000161097 uc003iru.3 AB023209 NM_016081 "CCDS93667|CCDS54819|CCDS54818|CCDS54820|CCDS34098" Q8WX93 "10231032|10931874" MGI:1919583 RGD:2322545 608092 441210 HGNC:17068 "ENST00000505667.6|NM_001166108.2" HGNC:40789 PALLD-AS1 PALLD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q32.3 04q32.3 Antisense RNAs 1987 2019-09-19 2019-09-19 107986199 ENSG00000249623 OTTHUMG00000161279 XR_001741449 HGNC:40789 HGNC:8594 PALM paralemmin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA0270|PALM1" paralemmin-1 Paralemmins 1792 1997-05-22 2023-01-20 5064 ENSG00000099864 OTTHUMG00000181785 uc002lpm.3 Y16270 NM_002579 "CCDS32857|CCDS32858" O75781 "9615234|9813098" MGI:1261814 RGD:620341 608134 HGNC:8594 "ENST00000338448.10|NM_002579.3" HGNC:15845 PALM2 paralemmin 2 other complex locus constituent Approved 9q31.3 09q31.3 Paralemmins 1792 2001-08-30 2023-01-20 OTTHUMG00000020479 uc004beg.4 AJ312216 Q8IXS6 11478809 -HGNC:33529 PALM2AKAP2 PALM2 and AKAP2 fusion protein-coding gene gene with protein product Approved 9q31.3 09q31.3 PALM2-AKAP2 "PALM2-AKAP2 readthrough|PALM2-AKAP2 fusion" 2007-07-31 2019-07-19 2019-07-19 2023-01-20 445815 ENSG00000157654 OTTHUMG00000156812 uc004bej.5 AB023137 NM_007203 "CCDS56581|CCDS43861|CCDS48003|CCDS48002|CCDS35099|CCDS35101|CCDS35100" "11478809|22855693" MGI:5141924 RGD:1305135 604582 HGNC:33529 "ENST00000374530.8|NM_007203.5" -HGNC:33274 PALM3 paralemmin 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 Paralemmins 1792 2010-04-15 2023-01-20 342979 ENSG00000187867 OTTHUMG00000181991 uc010xnk.2 NM_001145028 "CCDS92540|CCDS46001" A6NDB9 MGI:1921587 RGD:2323602 HGNC:33274 "ENST00000669674.2|NM_001145028.2" +HGNC:33529 PALM2AKAP2 PALM2 and AKAP2 fusion protein-coding gene gene with protein product Approved 9q31.3 09q31.3 PALM2-AKAP2 "PALM2-AKAP2 readthrough|PALM2-AKAP2 fusion" 2007-07-31 2019-07-19 2019-07-19 2023-01-20 445815 ENSG00000157654 OTTHUMG00000156812 uc004bej.5 AB023137 NM_007203 "CCDS35101|CCDS56581|CCDS48003|CCDS35099|CCDS35100|CCDS43861|CCDS48002" "11478809|22855693" MGI:5141924 RGD:1305135 604582 HGNC:33529 "ENST00000374530.8|NM_007203.5" +HGNC:33274 PALM3 paralemmin 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 Paralemmins 1792 2010-04-15 2023-01-20 342979 ENSG00000187867 OTTHUMG00000181991 uc010xnk.2 NM_001145028 "CCDS46001|CCDS92540" A6NDB9 MGI:1921587 RGD:2323602 HGNC:33274 "ENST00000669674.2|NM_001145028.2" HGNC:15846 PALMD palmdelphin protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "FLJ20271|PALML" C1orf11 Paralemmins 1792 2001-08-30 2023-01-20 54873 ENSG00000099260 OTTHUMG00000010764 uc001dsg.4 AJ312214 NM_017734 CCDS758 Q9NP74 11478809 MGI:2148896 RGD:1305624 610182 HGNC:15846 "ENST00000263174.9|NM_017734.5" -HGNC:18669 PALS1 protein associated with LIN7 1, MAGUK p55 family member protein-coding gene gene with protein product Approved 14q23.3 14q23.3 FLJ12615 "stardust|protein associated with Lin-7 1" MPP5 "membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)|membrane palmitoylated protein 5|protein associated with LIN7 1, MAGUK family member" "Membrane associated guanylate kinases|PDZ domain containing|Crumbs complex" "904|1220|1223" 2002-05-23 2021-02-15 2021-09-16 2023-01-20 64398 ENSG00000072415 OTTHUMG00000171243 uc001xjc.5 AK022677 NM_022474 "CCDS9779|CCDS58325" Q8N3R9 11927608 MGI:1927339 RGD:1308071 606958 HGNC:18669 "ENST00000261681.9|NM_022474.4" +HGNC:18669 PALS1 protein associated with LIN7 1, MAGUK p55 family member protein-coding gene gene with protein product Approved 14q23.3 14q23.3 FLJ12615 "stardust|protein associated with Lin-7 1" MPP5 "membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)|membrane palmitoylated protein 5|protein associated with LIN7 1, MAGUK family member" "Membrane associated guanylate kinases|PDZ domain containing|Crumbs complex" "904|1220|1223" 2002-05-23 2021-02-15 2021-09-16 2023-01-20 64398 ENSG00000072415 OTTHUMG00000171243 uc001xjc.5 AK022677 NM_022474 "CCDS58325|CCDS9779" Q8N3R9 11927608 MGI:1927339 RGD:1308071 606958 HGNC:18669 "ENST00000261681.9|NM_022474.4" HGNC:18167 PALS2 protein associated with LIN7 2, MAGUK p55 family member protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "VAM-1|p55T" MPP6 "membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)|membrane palmitoylated protein 6|protein associated with LIN7 2, MAGUK family member" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 2002-05-23 2021-02-15 2021-09-16 2023-01-20 51678 ENSG00000105926 OTTHUMG00000023507 uc003swy.4 AF162130 NM_001303037 CCDS5388 Q9NZW5 "10753959|11311936" MGI:1927340 RGD:1311833 606959 HGNC:18167 "ENST00000222644.10|NM_001303037.2" -HGNC:8596 PAM peptidylglycine alpha-amidating monooxygenase protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "PAL|PHM|PAM-1" "peptidyl-alpha-hydroxyglycine alpha-amidating lyase|peptidylglycine alpha-hydroxylating monooxygenase" 1992-06-08 2023-05-24 5066 ENSG00000145730 OTTHUMG00000128729 uc003knt.4 AB095007 NM_000919 "CCDS4094|CCDS4093|CCDS4092|CCDS93757|CCDS93753|CCDS93754|CCDS93755|CCDS93756|CCDS43348|CCDS54885" P19021 2357221 MGI:97475 RGD:3252 170270 1.14.17.3 HGNC:8596 "ENST00000438793.8|NM_001177306.2" +HGNC:8596 PAM peptidylglycine alpha-amidating monooxygenase protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "PAL|PHM|PAM-1" "peptidyl-alpha-hydroxyglycine alpha-amidating lyase|peptidylglycine alpha-hydroxylating monooxygenase" 1992-06-08 2023-05-24 5066 ENSG00000145730 OTTHUMG00000128729 uc003knt.4 AB095007 NM_000919 "CCDS93753|CCDS43348|CCDS4093|CCDS93754|CCDS93755|CCDS4092|CCDS93757|CCDS93756|CCDS4094|CCDS54885" P19021 2357221 MGI:97475 RGD:3252 170270 1.14.17.3 HGNC:8596 "ENST00000438793.8|NM_001177306.2" HGNC:29679 PAM16 presequence translocase associated motor 16 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Magmas|Tim16|TIMM16" mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction "presequence translocase-associated motor 16 homolog (S. cerevisiae)|presequence translocase associated motor 16 homolog" TIM23 complex 1552 2010-09-01 2017-08-08 2023-01-20 51025 ENSG00000217930 OTTHUMG00000129466 uc059qdf.1 AK026514 NM_016069 CCDS10512 Q9Y3D7 "10810093|11750097|20053669" MGI:1913699 RGD:1598163 614336 404774 HGNC:29679 "ENST00000318059.8|NM_016069.11" HGNC:29679 -HGNC:24554 PAMR1 peptidase domain containing associated with muscle regeneration 1 protein-coding gene gene with protein product Approved 11p13 11p13 "RAMP|DKFZP586H2123" regeneration-associated muscle protease Sushi domain containing 1179 2009-04-07 2023-01-20 25891 ENSG00000149090 OTTHUMG00000166328 uc031xjx.2 NM_015430 "CCDS7898|CCDS60759|CCDS60760|CCDS31460" Q6UXH9 15111323 MGI:2445082 RGD:1308745 HGNC:24554 "ENST00000619888.5|NM_001001991.3" -HGNC:20074 PAN2 poly(A) specific ribonuclease subunit PAN2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "KIAA0710|hPAN2" PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae) USP52 "ubiquitin specific protease 52|ubiquitin specific peptidase 52|PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)|PAN2 poly(A) specific ribonuclease subunit" "WD repeat domain containing|Ubiquitin specific peptidases|Exonucleases" "362|366|544" 2003-09-04 2008-01-08 2018-04-23 2023-01-20 9924 ENSG00000135473 OTTHUMG00000170412 uc001sky.4 AB014610 NM_014871 "CCDS53802|CCDS8915|CCDS44922" Q504Q3 "12838346|14583602" MGI:1918984 RGD:1303301 617447 C19.978 HGNC:20074 "ENST00000440411.8|NM_014871.6" HGNC:20074 +HGNC:24554 PAMR1 peptidase domain containing associated with muscle regeneration 1 protein-coding gene gene with protein product Approved 11p13 11p13 "RAMP|DKFZP586H2123" regeneration-associated muscle protease Sushi domain containing 1179 2009-04-07 2023-01-20 25891 ENSG00000149090 OTTHUMG00000166328 uc031xjx.2 NM_015430 "CCDS60759|CCDS31460|CCDS7898|CCDS60760" Q6UXH9 15111323 MGI:2445082 RGD:1308745 HGNC:24554 "ENST00000619888.5|NM_001001991.3" +HGNC:20074 PAN2 poly(A) specific ribonuclease subunit PAN2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "KIAA0710|hPAN2" PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae) USP52 "ubiquitin specific protease 52|ubiquitin specific peptidase 52|PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)|PAN2 poly(A) specific ribonuclease subunit" "WD repeat domain containing|Ubiquitin specific peptidases|Exonucleases" "362|366|544" 2003-09-04 2008-01-08 2018-04-23 2023-01-20 9924 ENSG00000135473 OTTHUMG00000170412 uc001sky.4 AB014610 NM_014871 "CCDS44922|CCDS8915|CCDS53802" Q504Q3 "12838346|14583602" MGI:1918984 RGD:1303301 617447 C19.978 HGNC:20074 "ENST00000440411.8|NM_014871.6" HGNC:20074 HGNC:29991 PAN3 poly(A) specific ribonuclease subunit PAN3 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)|PAN3 poly(A) specific ribonuclease subunit" 2006-04-10 2018-04-23 2023-01-20 255967 ENSG00000152520 OTTHUMG00000016645 uc001urz.4 AK091307 NM_175854 CCDS9329 Q58A45 14583602 MGI:1919837 RGD:1590880 617448 HGNC:29991 "ENST00000380958.8|NM_175854.8" HGNC:39932 PAN3-AS1 PAN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.2 13q12.2 PAN3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-12 2012-08-15 2016-11-11 100288730 ENSG00000261485 OTTHUMG00000175971 uc058wcc.1 BC045730 NR_029383 PAN3-AS1 HGNC:39932 HGNC:52282 PANCR PITX2 adjacent non-coding RNA non-coding RNA RNA, long non-coding Approved 4q25 04q25 Long non-coding RNAs with non-systematic symbols 1992 2016-01-29 2020-04-20 110231149 ENSG00000250103 OTTHUMG00000161118 NR_147203 "26783232|27716615" 617286 PANCR HGNC:52282 HGNC:44048 PANDAR promoter of CDKN1A antisense DNA damage activated RNA non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 PANDA p21 associated ncRNA DNA damage activated Long non-coding RNAs with non-systematic symbols 1992 2012-12-15 2017-03-01 101154753 ENSG00000281450 OTTHUMG00000189732 uc032wvg.1 JF803844 NR_109836 21642992 617179 PANDA PANDAR HGNC:44048 -HGNC:8598 PANK1 pantothenate kinase 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "MGC24596|PANK1a|PANK1b" PANK pantothenate kinase "MicroRNA protein coding host genes|Pantothenate kinase family" "1691|1956" 2000-05-02 2002-11-15 2002-11-13 2023-01-20 53354 ENSG00000152782 OTTHUMG00000018718 uc001kgn.3 AF355198 NM_138316 "CCDS7406|CCDS31244|CCDS7405" Q8TE04 11809413 MGI:1922985 RGD:1304677 606160 HGNC:8598 "ENST00000307534.10|NM_148977.3" +HGNC:8598 PANK1 pantothenate kinase 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "MGC24596|PANK1a|PANK1b" PANK pantothenate kinase "MicroRNA protein coding host genes|Pantothenate kinase family" "1691|1956" 2000-05-02 2002-11-15 2002-11-13 2023-01-20 53354 ENSG00000152782 OTTHUMG00000018718 uc001kgn.3 AF355198 NM_138316 "CCDS7405|CCDS7406|CCDS31244" Q8TE04 11809413 MGI:1922985 RGD:1304677 606160 HGNC:8598 "ENST00000307534.10|NM_148977.3" HGNC:55718 PANK1-AS1 PANK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 Antisense RNAs 1987 2021-07-12 2021-07-12 105378421 ENSG00000232936 NR_184342 -HGNC:15894 PANK2 pantothenate kinase 2 protein-coding gene gene with protein product Approved 20p13 20p13 "HSS|FLJ11729|PKAN|HARP" "Hallervorden-Spatz syndrome|pantothenate kinase-associated neurodegeneration" "C20orf48|NBIA1" neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome) "MicroRNA protein coding host genes|Pantothenate kinase family" "1691|1956" 2001-06-21 2002-09-06 2008-07-31 2023-03-15 80025 ENSG00000125779 OTTHUMG00000031768 uc002wkc.3 AK021791 NM_024960 "CCDS13072|CCDS93004|CCDS13071" Q9BZ23 "8944032|11479594" MGI:1921700 RGD:1305169 LRG_1016|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1016.xml 606157 124070 2.7.1.33 HGNC:15894 "ENST00000610179.7|NM_001386393.1" HGNC:15894 +HGNC:15894 PANK2 pantothenate kinase 2 protein-coding gene gene with protein product Approved 20p13 20p13 "HSS|FLJ11729|PKAN|HARP" "Hallervorden-Spatz syndrome|pantothenate kinase-associated neurodegeneration" "C20orf48|NBIA1" neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome) "MicroRNA protein coding host genes|Pantothenate kinase family" "1691|1956" 2001-06-21 2002-09-06 2008-07-31 2023-03-15 80025 ENSG00000125779 OTTHUMG00000031768 uc002wkc.3 AK021791 NM_024960 "CCDS13071|CCDS13072|CCDS93004" Q9BZ23 "8944032|11479594" MGI:1921700 RGD:1305169 LRG_1016|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1016.xml 606157 124070 2.7.1.33 HGNC:15894 "ENST00000610179.7|NM_001386393.1" HGNC:15894 HGNC:40732 PANK2-AS1 PANK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 Antisense RNAs 1987 2019-09-19 2019-09-19 107985395 ENSG00000229539 OTTHUMG00000031766 XR_001754478 HGNC:40732 HGNC:19365 PANK3 pantothenate kinase 3 protein-coding gene gene with protein product Approved 5q34 05q34 FLJ12899 "MicroRNA protein coding host genes|Pantothenate kinase family" "1691|1956" 2002-10-11 2023-01-20 79646 ENSG00000120137 OTTHUMG00000130410 uc003lzy.4 AK022961 NM_024594 CCDS4368 Q9H999 11479594 MGI:2387464 RGD:1310531 606161 HGNC:19365 "ENST00000239231.7|NM_024594.4" HGNC:19366 PANK4 pantothenate kinase 4 (inactive) protein-coding gene gene with protein product Approved 1p36.32 01p36.32 FLJ10782 pantothenate kinase 4 Pantothenate kinase family 1956 2002-10-11 2019-09-05 2023-02-23 55229 ENSG00000157881 OTTHUMG00000000791 uc001ajm.3 AK001644 NM_018216 CCDS42 Q9NVE7 "11479594|30927326" MGI:2387466 RGD:628857 606162 HGNC:19366 "ENST00000378466.9|NM_018216.4" HGNC:19366 HGNC:51237 PANO1 proapoptotic nucleolar protein 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 PANO 2014-10-23 2023-03-15 101927423 ENSG00000288675 XM_034751809 I0J062 22094112 HGNC:51237 HGNC:49513 PANTR1 POU3F3 adjacent non-coding transcript 1 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 "linc-Brn1a|linc-POU3F3" LINC01158 long intergenic non-protein coding RNA 1158 Long non-coding RNAs with non-systematic symbols 1992 2014-01-01 2018-06-20 2018-06-20 2019-05-09 100506421 ENSG00000233639 OTTHUMG00000153065 AK096498 NR_037883 "24381249|28815543" MGI:1913547 RGD:7688151 618169 LINC01158 HGNC:49513 HGNC:8599 PANX1 pannexin 1 protein-coding gene gene with protein product Approved 11q21 11q21 "MRS1|UNQ2529|PX1" innexin Pannexins 288 2000-07-31 2023-01-20 24145 ENSG00000110218 OTTHUMG00000167757 uc001per.4 AF093239 NM_015368 CCDS8296 Q96RD7 14597722 MGI:1860055 RGD:735204 608420 objectId:735 HGNC:8599 "ENST00000227638.8|NM_015368.4" HGNC:8599 -HGNC:8600 PANX2 pannexin 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "hPANX2|PX2" Pannexins 288 2000-07-31 2023-03-06 56666 ENSG00000073150 OTTHUMG00000044649 uc003bjn.5 NM_052839 "CCDS54544|CCDS14085" Q96RD6 "14597722|36869038" MGI:1890615 RGD:735191 608421 objectId:736 HGNC:8600 "ENST00000395842.3|NM_052839.4" +HGNC:8600 PANX2 pannexin 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "hPANX2|PX2" Pannexins 288 2000-07-31 2023-03-06 56666 ENSG00000073150 OTTHUMG00000044649 uc003bjn.5 NM_052839 "CCDS14085|CCDS54544" Q96RD6 "14597722|36869038" MGI:1890615 RGD:735191 608421 objectId:736 HGNC:8600 "ENST00000395842.3|NM_052839.4" HGNC:20573 PANX3 pannexin 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 Px3 Pannexins 288 2003-02-26 2023-01-20 116337 ENSG00000154143 OTTHUMG00000165925 uc001qah.4 AF406650 NM_052959 CCDS8447 Q96QZ0 MGI:1918881 RGD:735137 608422 objectId:737 HGNC:20573 "ENST00000284288.3|NM_052959.3" -HGNC:20837 PAOX polyamine oxidase protein-coding gene gene with protein product Approved 10q26.3 10q26.3 PAO polyamine oxidase (exo-N4-amino) 2003-11-13 2016-08-11 2023-03-15 196743 ENSG00000148832 OTTHUMG00000019318 uc001lmv.5 BC032778 NM_152911 "CCDS7683|CCDS7682|CCDS7684" Q6QHF9 12660232 MGI:1916983 RGD:1561125 615853 HGNC:20837 "ENST00000278060.10|NM_152911.4" +HGNC:20837 PAOX polyamine oxidase protein-coding gene gene with protein product Approved 10q26.3 10q26.3 PAO polyamine oxidase (exo-N4-amino) 2003-11-13 2016-08-11 2023-03-15 196743 ENSG00000148832 OTTHUMG00000019318 uc001lmv.5 BC032778 NM_152911 "CCDS7683|CCDS7684|CCDS7682" Q6QHF9 12660232 MGI:1916983 RGD:1561125 615853 HGNC:20837 "ENST00000278060.10|NM_152911.4" HGNC:19262 PAPLN papilin, proteoglycan like sulfated glycoprotein protein-coding gene gene with protein product Approved 14q24.2 14q24.2 MGC50452 "I-set domain containing|ADAMTS like" "593|947" 2003-12-10 2016-06-07 2023-01-20 89932 ENSG00000100767 OTTHUMG00000171366 uc010ttx.3 BC042057 NM_173462 "CCDS91899|CCDS91898|CCDS32114" O95428 "11076767|19734141" MGI:2386139 RGD:1311176 617785 I02.972 HGNC:19262 "ENST00000644200.2|NM_001365906.3" HGNC:55451 PAPLN-AS1 PAPLN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 Antisense RNAs 1987 2021-01-20 2021-01-20 101928123 ENSG00000258376 NR_135248 -HGNC:14981 PAPOLA poly(A) polymerase alpha protein-coding gene gene with protein product Approved 14q32.2 14q32.2 PAP 2001-03-27 2023-01-20 10914 ENSG00000090060 OTTHUMG00000171441 uc001yfq.4 X76770 NM_001252006 "CCDS58335|CCDS86431|CCDS9946|CCDS58334" P51003 "8302877|10429366" MGI:109301 RGD:1308673 605553 2.7.7.19 HGNC:14981 "ENST00000216277.13|NM_032632.5" +HGNC:14981 PAPOLA poly(A) polymerase alpha protein-coding gene gene with protein product Approved 14q32.2 14q32.2 PAP 2001-03-27 2023-01-20 10914 ENSG00000090060 OTTHUMG00000171441 uc001yfq.4 X76770 NM_001252006 "CCDS58334|CCDS9946|CCDS86431|CCDS58335" P51003 "8302877|10429366" MGI:109301 RGD:1308673 605553 2.7.7.19 HGNC:14981 "ENST00000216277.13|NM_032632.5" HGNC:55380 PAPOLA-DT PAPOLA divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 Divergent transcripts 1990 2020-11-12 2020-11-12 730202 ENSG00000260806 NR_122121 HGNC:15970 PAPOLB poly(A) polymerase beta protein-coding gene gene with protein product Approved 7p22.1 07p22.1 PAPT poly(A) polymerase beta (testis specific) 2001-06-25 2015-11-06 2023-01-20 56903 ENSG00000218823 OTTHUMG00000151759 uc003snk.4 AF218840 NM_020144 CCDS78202 Q9NRJ5 11150526 MGI:1932115 RGD:1310946 607436 2.7.7.19 HGNC:15970 "ENST00000404991.2|NM_020144.5" HGNC:14982 PAPOLG poly(A) polymerase gamma protein-coding gene gene with protein product Approved 2p16.1 02p16.1 FLJ12972 2001-05-22 2023-01-20 64895 ENSG00000115421 OTTHUMG00000129419 uc002sai.4 AC012498 NM_022894 CCDS1863 Q9BWT3 MGI:2442119 RGD:1310337 616865 2.7.7.19 HGNC:14982 "ENST00000238714.8|NM_022894.4" @@ -24713,21 +24715,21 @@ HGNC:35152 PAPPA-AS1 PAPPA antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:35160 PAPPA-AS2 PAPPA antisense RNA 2 non-coding RNA RNA, long non-coding Approved 9q33.1 09q33.1 AGU1 adipogenesis up-regulated transcript 1 Antisense RNAs 1987 2013-07-01 2013-07-04 103611155 ENSG00000226604 OTTHUMG00000020554 AK092105 NR_170222 19531736 PAPPA-AS2 HGNC:14615 PAPPA2 pappalysin 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "PAPPE|PAPP-A2" PLAC3 placenta-specific 3 "Pappalysins|Sushi domain containing" "897|1179" 2002-04-03 2004-07-09 2004-07-07 2023-01-20 60676 ENSG00000116183 OTTHUMG00000035025 uc001gkz.4 BG354569 NM_020318 "CCDS41439|CCDS41438" Q9BXP8 "11018262|11264294" MGI:3051647 RGD:1591785 619485 M43.005 HGNC:14615 "ENST00000367662.5|NM_020318.3" HGNC:8603 PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 protein-coding gene gene with protein product Approved 4q25 04q25 "ATPSK1|PAPSS" "sulfate adenylyltransferase|adenylyl-sulfate kinase" 1999-01-29 2023-01-20 9061 ENSG00000138801 OTTHUMG00000131210 uc003hyk.4 Y10387 NM_005443 CCDS3676 O43252 "9576487|9771708" MGI:1330587 RGD:1308081 603262 470830 "2.7.7.4|2.7.1.25" HGNC:8603 "ENST00000265174.5|NM_005443.5" -HGNC:8604 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 protein-coding gene gene with protein product Approved 10q23.2-q23.31 10q23.2-q23.31 ATPSK2 "PAPS synthase 2|adenosine 5'-phosphosulfate kinase|bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2" 1999-01-29 2023-01-20 9060 ENSG00000198682 OTTHUMG00000018683 uc001kex.4 AF091242 NM_001015880 "CCDS44453|CCDS7385" O95340 9771708 MGI:1330223 RGD:1307012 603005 124077 "2.7.7.4|2.7.1.25" HGNC:8604 "ENST00000456849.2|NM_001015880.2" HGNC:8604 +HGNC:8604 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 protein-coding gene gene with protein product Approved 10q23.2-q23.31 10q23.2-q23.31 ATPSK2 "PAPS synthase 2|adenosine 5'-phosphosulfate kinase|bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2" 1999-01-29 2023-01-20 9060 ENSG00000198682 OTTHUMG00000018683 uc001kex.4 AF091242 NM_001015880 "CCDS7385|CCDS44453" O95340 9771708 MGI:1330223 RGD:1307012 603005 124077 "2.7.7.4|2.7.1.25" HGNC:8604 "ENST00000456849.2|NM_001015880.2" HGNC:8604 HGNC:30130 PAQR3 progestin and adipoQ receptor family member 3 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 progestin and adipoQ receptor family member III Progestin and adipoQ receptor family 930 2004-06-23 2016-03-30 2023-01-20 152559 ENSG00000163291 OTTHUMG00000161026 uc062xpp.1 AK055774 NM_177453 CCDS34020 Q6TCH7 16044242 MGI:2679683 RGD:1310426 614577 HGNC:30130 "ENST00000512733.5|NM_001040202.2" -HGNC:26386 PAQR4 progestin and adipoQ receptor family member 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ30002 progestin and adipoQ receptor family member IV Progestin and adipoQ receptor family 930 2004-06-23 2016-03-30 2023-01-20 124222 ENSG00000162073 OTTHUMG00000128977 uc002csj.5 NM_152341 "CCDS66912|CCDS73814|CCDS10485|CCDS66911" Q8N4S7 28992327 MGI:1923748 RGD:1309533 614578 HGNC:26386 "ENST00000318782.9|NM_152341.5" +HGNC:26386 PAQR4 progestin and adipoQ receptor family member 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ30002 progestin and adipoQ receptor family member IV Progestin and adipoQ receptor family 930 2004-06-23 2016-03-30 2023-01-20 124222 ENSG00000162073 OTTHUMG00000128977 uc002csj.5 NM_152341 "CCDS10485|CCDS66912|CCDS66911|CCDS73814" Q8N4S7 28992327 MGI:1923748 RGD:1309533 614578 HGNC:26386 "ENST00000318782.9|NM_152341.5" HGNC:29645 PAQR5 progestin and adipoQ receptor family member 5 protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ20190|MPRG" membrane progestin receptor gamma progestin and adipoQ receptor family member V Progestin and adipoQ receptor family 930 2005-05-20 2016-03-30 2023-01-20 54852 ENSG00000137819 OTTHUMG00000133322 uc002arz.3 NM_017705 CCDS10232 Q9NXK6 12574519 MGI:1921340 RGD:1311259 607781 HGNC:29645 "ENST00000395407.7|NM_017705.4" HGNC:55353 PAQR5-DT PAQR5 divergent transcript non-coding RNA RNA, long non-coding Approved 15q23 15q23 Divergent transcripts 1990 2020-11-05 2020-11-05 102723548 ENSG00000261634 NR_184009 -HGNC:30132 PAQR6 progestin and adipoQ receptor family member 6 protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ22672|PRdelta" progestin and adipoQ receptor family member VI Progestin and adipoQ receptor family 930 2004-06-23 2016-03-30 2023-01-20 79957 ENSG00000160781 OTTHUMG00000017490 uc001fnu.3 AF455045 NM_024897 "CCDS1136|CCDS60301|CCDS72945|CCDS1135|CCDS72946" Q6TCH4 18603275 MGI:1916207 RGD:1584722 614579 HGNC:30132 "ENST00000292291.10|NM_198406.3" +HGNC:30132 PAQR6 progestin and adipoQ receptor family member 6 protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ22672|PRdelta" progestin and adipoQ receptor family member VI Progestin and adipoQ receptor family 930 2004-06-23 2016-03-30 2023-01-20 79957 ENSG00000160781 OTTHUMG00000017490 uc001fnu.3 AF455045 NM_024897 "CCDS72946|CCDS60301|CCDS72945|CCDS1136|CCDS1135" Q6TCH4 18603275 MGI:1916207 RGD:1584722 614579 HGNC:30132 "ENST00000292291.10|NM_198406.3" HGNC:23146 PAQR7 progestin and adipoQ receptor family member 7 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "mSR|MPRA|PGLP" membrane progestin receptor alpha progestin and adipoQ receptor family member VII Progestin and adipoQ receptor family 930 2005-05-20 2016-03-30 2023-01-20 164091 ENSG00000182749 OTTHUMG00000007373 uc001bkx.4 NM_178422 CCDS267 Q86WK9 15589683 MGI:1919154 RGD:1563621 607779 HGNC:23146 "ENST00000675840.1|NM_178422.6" HGNC:15708 PAQR8 progestin and adipoQ receptor family member 8 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "LMPB1|MPRB" C6orf33 "chromosome 6 open reading frame 33|progestin and adipoQ receptor family member VIII" Progestin and adipoQ receptor family 930 2001-06-01 2005-05-20 2016-03-30 2023-01-20 85315 ENSG00000170915 OTTHUMG00000014846 uc003pao.4 AF347029 NM_133367 CCDS4941 Q8TEZ7 "11676489|12574519" MGI:1921479 RGD:1311710 607780 HGNC:15708 "ENST00000442253.3|NM_133367.5" HGNC:15708 HGNC:30131 PAQR9 progestin and adipoQ receptor family member 9 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ41938|BLNC1" brown fat long noncoding RNA progestin and adipoQ receptor family member IX Progestin and adipoQ receptor family 930 2004-06-23 2016-03-30 2023-01-20 344838 ENSG00000188582 OTTHUMG00000159313 uc003evg.5 AY424287 NM_198504 CCDS3128 Q6ZVX9 "18252|18257" MGI:1922802 RGD:1311515 614580 HGNC:30131 "ENST00000340634.6|NM_198504.4" HGNC:50861 PAQR9-AS1 PAQR9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 Antisense RNAs 1987 2014-07-11 2014-07-11 101927832 ENSG00000241570 OTTHUMG00000159316 DB456045 NR_125393 PAQR9-AS1 HGNC:50861 HGNC:53772 PARAL1 PPARG activating RBM14 associated lncRNA 1 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 PPARgamma-activator RBM14-associated lncRNA Long non-coding RNAs with non-systematic symbols 1992 2017-11-02 2017-11-02 101929371 ENSG00000243961 OTTHUMG00000031858 NR_109861 29075020 MGI:2677839 HGNC:53772 -HGNC:16051 PARD3 par-3 family cell polarity regulator protein-coding gene gene with protein product Approved 10p11.22-p11.21 10p11.22-p11.21 "PAR3|PARD3A|Bazooka|Baz|ASIP|PPP1R118" "atypical PKC isotype-specific interacting protein|par-3 family cell polarity regulator alpha|protein phosphatase 1, regulatory subunit 118" "par-3 (partitioning defective 3, C.elegans) homolog|par-3 partitioning defective 3 homolog (C. elegans)" "Protein phosphatase 1 regulatory subunits|PDZ domain containing" "694|1220" 2001-07-27 2013-08-28 2023-01-20 56288 ENSG00000148498 OTTHUMG00000017948 uc057srn.1 AF252293 NM_019619 "CCDS53515|CCDS53514|CCDS53509|CCDS53516|CCDS7178|CCDS53511|CCDS53510|CCDS53513|CCDS53512" Q8TEW0 10934474 MGI:2135608 RGD:620374 606745 HGNC:16051 "ENST00000374788.8|NM_001184785.2" +HGNC:16051 PARD3 par-3 family cell polarity regulator protein-coding gene gene with protein product Approved 10p11.22-p11.21 10p11.22-p11.21 "PAR3|PARD3A|Bazooka|Baz|ASIP|PPP1R118" "atypical PKC isotype-specific interacting protein|par-3 family cell polarity regulator alpha|protein phosphatase 1, regulatory subunit 118" "par-3 (partitioning defective 3, C.elegans) homolog|par-3 partitioning defective 3 homolog (C. elegans)" "Protein phosphatase 1 regulatory subunits|PDZ domain containing" "694|1220" 2001-07-27 2013-08-28 2023-01-20 56288 ENSG00000148498 OTTHUMG00000017948 uc057srn.1 AF252293 NM_019619 "CCDS53512|CCDS53509|CCDS53514|CCDS53513|CCDS7178|CCDS53510|CCDS53516|CCDS53515|CCDS53511" Q8TEW0 10934474 MGI:2135608 RGD:620374 606745 HGNC:16051 "ENST00000374788.8|NM_001184785.2" HGNC:44964 PARD3-DT PARD3 divergent transcript non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 PARD3-AS1 PARD3 antisense RNA 1 Divergent transcripts 1990 2012-12-20 2021-08-02 2021-08-02 2021-08-02 100505601 ENSG00000226386 OTTHUMG00000017947 uc031wcl.2 NR_108043 PARD3-AS1 HGNC:44964 -HGNC:14446 PARD3B par-3 family cell polarity regulator beta protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "Par3L|PAR3beta" ALS2CR19 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19|par-3 partitioning defective 3 homolog B (C. elegans)" PDZ domain containing 1220 2001-01-26 2006-09-28 2013-08-28 2023-01-20 117583 ENSG00000116117 OTTHUMG00000154562 uc002var.2 AB053321 NM_057177 "CCDS42806|CCDS77511|CCDS42805|CCDS42804" Q8TEW8 "11586298|12459187" MGI:1919301 RGD:1584992 619353 HGNC:14446 "ENST00000406610.7|NM_001302769.2" -HGNC:15943 PARD6A par-6 family cell polarity regulator alpha protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "PAR-6|PAR-6A|TAX40|PAR6alpha|TIP-40" "par-6 (partitioning defective 6, C.elegans) homolog alpha|par-6 partitioning defective 6 homolog alpha (C. elegans)" PDZ domain containing 1220 2001-06-21 2013-08-28 2023-01-20 50855 ENSG00000102981 OTTHUMG00000137534 uc002ets.3 NM_016948 "CCDS45514|CCDS10843" Q9NPB6 "9482110|11260256" MGI:1927223 RGD:1303273 607484 HGNC:15943 "ENST00000458121.7|NM_001037281.2" +HGNC:14446 PARD3B par-3 family cell polarity regulator beta protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "Par3L|PAR3beta" ALS2CR19 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19|par-3 partitioning defective 3 homolog B (C. elegans)" PDZ domain containing 1220 2001-01-26 2006-09-28 2013-08-28 2023-01-20 117583 ENSG00000116117 OTTHUMG00000154562 uc002var.2 AB053321 NM_057177 "CCDS42806|CCDS42805|CCDS77511|CCDS42804" Q8TEW8 "11586298|12459187" MGI:1919301 RGD:1584992 619353 HGNC:14446 "ENST00000406610.7|NM_001302769.2" +HGNC:15943 PARD6A par-6 family cell polarity regulator alpha protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "PAR-6|PAR-6A|TAX40|PAR6alpha|TIP-40" "par-6 (partitioning defective 6, C.elegans) homolog alpha|par-6 partitioning defective 6 homolog alpha (C. elegans)" PDZ domain containing 1220 2001-06-21 2013-08-28 2023-01-20 50855 ENSG00000102981 OTTHUMG00000137534 uc002ets.3 NM_016948 "CCDS10843|CCDS45514" Q9NPB6 "9482110|11260256" MGI:1927223 RGD:1303273 607484 HGNC:15943 "ENST00000458121.7|NM_001037281.2" HGNC:16245 PARD6B par-6 family cell polarity regulator beta protein-coding gene gene with protein product Approved 20q13.13 20q13.13 PAR-6B "par-6 (partitioning defective 6, C.elegans) homolog beta|par-6 partitioning defective 6 homolog beta (C. elegans)" PDZ domain containing 1220 2001-08-01 2013-08-28 2023-01-20 84612 ENSG00000124171 OTTHUMG00000032732 uc002xvo.3 AB044555 NM_032521 CCDS33485 Q9BYG5 11260256 MGI:2135605 RGD:1308205 608975 HGNC:16245 "ENST00000371610.7|NM_032521.3" HGNC:55087 PARD6BP1 PARD6B pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2020-06-19 2020-06-19 100422369 ENSG00000237025 NG_026759 HGNC:16076 PARD6G par-6 family cell polarity regulator gamma protein-coding gene gene with protein product Approved 18q23 18q23 "PAR-6G|PAR6gamma" "par-6 (partitioning defective 6, C.elegans) homolog gamma|par-6 partitioning defective 6 homolog gamma (C. elegans)" PDZ domain containing 1220 2001-07-31 2013-08-28 2023-01-20 84552 ENSG00000178184 OTTHUMG00000132922 uc002lny.4 NM_032510 CCDS12022 Q9BYG4 11260256 MGI:2135606 RGD:1305016 608976 HGNC:16076 "ENST00000353265.8|NM_032510.4" @@ -24737,12 +24739,12 @@ HGNC:45008 PARGP1 poly(ADP-ribose) glycohydrolase pseudogene 1 pseudogene pseudo HGNC:16369 PARK7 Parkinsonism associated deglycase protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "DJ-1|DJ1|GATD2" "Parkinson disease (autosomal recessive, early onset) 7|parkinson protein 7" Glutamine amidotransferase class 1 domain containing 1408 2001-08-07 2016-02-15 2023-01-20 11315 ENSG00000116288 OTTHUMG00000001210 uc057byc.1 D61380 NM_007262 CCDS93 Q99497 "11462174|9070310|25416785|28596309" MGI:2135637 RGD:621808 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PARK7 602533 124084 C56.002 HGNC:16369 "ENST00000338639.10|NM_007262.5" HGNC:16369 HGNC:55066 PARK7P1 PARK7 pseudogene 1 pseudogene pseudogene Approved 12q13.12 12q13.12 2020-06-09 2020-06-09 100422296 ENSG00000257243 NG_032901 PGOHUM00000291652 HGNC:55067 PARK7P2 PARK7 pseudogene 2 pseudogene pseudogene Approved 9q22.32 09q22.32 2020-06-09 2020-06-09 100422232 ENSG00000237631 NG_023943 PGOHUM00000304398 -HGNC:18253 PARL presenilin associated rhomboid like protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "PRO2207|PSARL1|RHBDS1" rhomboid 7 homolog 1 (Drosophila) PSARL presenilin associated, rhomboid-like Rhomboid family 926 2003-09-03 2006-02-28 2016-04-04 2023-01-20 55486 ENSG00000175193 OTTHUMG00000156890 uc003fmd.4 AF116692 NM_018622 "CCDS3248|CCDS82878|CCDS33897" Q9H300 MGI:1277152 RGD:1306191 607858 S54.009 HGNC:18253 "ENST00000317096.9|NM_018622.7" +HGNC:18253 PARL presenilin associated rhomboid like protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "PRO2207|PSARL1|RHBDS1" rhomboid 7 homolog 1 (Drosophila) PSARL presenilin associated, rhomboid-like Rhomboid family 926 2003-09-03 2006-02-28 2016-04-04 2023-01-20 55486 ENSG00000175193 OTTHUMG00000156890 uc003fmd.4 AF116692 NM_018622 "CCDS33897|CCDS82878|CCDS3248" Q9H300 MGI:1277152 RGD:1306191 607858 S54.009 HGNC:18253 "ENST00000317096.9|NM_018622.7" HGNC:56485 PARLP1 PARL pseudogene 1 pseudogene pseudogene Approved 3q13.33 03q13.33 2022-10-20 2022-10-20 100129707 ENSG00000239835 NG_017154 PGOHUM00000299544 HGNC:56486 PARLP2 PARL pseudogene 2 pseudogene pseudogene Approved 6q24.2 06q24.2 2022-10-20 2022-10-20 100131471 ENSG00000217648 NG_028821 PGOHUM00000301969 HGNC:24536 PARM1 prostate androgen-regulated mucin-like protein 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "DKFZP564O0823|Cipar1|WSC4" "Prostatic androgen-repressed message 1|Castration-induced prostatic apoptosis-related protein 1|WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)" 2009-09-22 2009-09-28 2023-01-20 25849 ENSG00000169116 OTTHUMG00000160827 uc003hih.3 AK022311 NM_015393 CCDS47077 Q6UWI2 "10499539|12772192|18027867" MGI:2443349 RGD:708342 617688 HGNC:24536 "ENST00000307428.7|NM_015393.4" HGNC:41051 PARM1-AS1 PARM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q13.3 04q13.3 Antisense RNAs 1987 2019-09-19 2019-09-19 100507388 ENSG00000249717 OTTHUMG00000160830 NR_121617 HGNC:41051 -HGNC:8609 PARN poly(A)-specific ribonuclease protein-coding gene gene with protein product Approved 16p13.12 16p13.12 DAN deadenylation nuclease poly(A)-specific ribonuclease (deadenylation nuclease) "Ribosomal biogenesis factors|PARN exonuclease family" "1729|2052" 1998-07-23 2011-07-07 2023-05-17 5073 ENSG00000140694 OTTHUMG00000173199 uc010uzd.3 AJ005698 NM_002582 "CCDS45420|CCDS58425|CCDS45419" O95453 10640832 MGI:1921358 RGD:1565449 LRG_1286|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1286.xml 604212 426776 3.1.13.4 HGNC:8609 "ENST00000437198.7|NM_002582.4" HGNC:8609 +HGNC:8609 PARN poly(A)-specific ribonuclease protein-coding gene gene with protein product Approved 16p13.12 16p13.12 DAN deadenylation nuclease poly(A)-specific ribonuclease (deadenylation nuclease) "Ribosomal biogenesis factors|PARN exonuclease family" "1729|2052" 1998-07-23 2011-07-07 2023-05-17 5073 ENSG00000140694 OTTHUMG00000173199 uc010uzd.3 AJ005698 NM_002582 "CCDS58425|CCDS45420|CCDS45419" O95453 10640832 MGI:1921358 RGD:1565449 LRG_1286|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1286.xml 604212 426776 3.1.13.4 HGNC:8609 "ENST00000437198.7|NM_002582.4" HGNC:8609 HGNC:270 PARP1 poly(ADP-ribose) polymerase 1 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "PARP|ARTD1|Poly-PARP|PARS" "PPOL|ADPRT" "ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)|poly (ADP-ribose) polymerase family, member 1" "Zinc fingers PARP-type|Poly(ADP-ribose) polymerases" "94|684" 1986-01-01 2004-08-26 2015-11-06 2023-01-20 142 ENSG00000143799 OTTHUMG00000037556 uc001hqd.5 BC037545 NM_001618 CCDS1554 P09874 10964595 MGI:1340806 RGD:2053 173870 objectId:2771 2.4.2.30 HGNC:270 "ENST00000366794.10|NM_001618.4" HGNC:275 PARP1P1 poly(ADP-ribose) polymerase 1 pseudogene 1 pseudogene pseudogene Approved 13q34 13q34 "PPOLP1|ADPRTP1" "ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 1|poly(ADP-ribose) polymerase family, member 1 pseudogene 1" 1986-01-01 2004-08-20 2016-03-01 2016-03-01 144 ENSG00000227105 OTTHUMG00000017350 NG_002655 2891139 PGOHUM00000248684 HGNC:275 HGNC:276 PARP1P2 poly(ADP-ribose) polymerase 1 pseudogene 2 pseudogene pseudogene Approved 14q23.2 14q23.2 "PPOLP2|ADPRTP2" "ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 2|poly(ADP-ribose) polymerase family, member 1 pseudogene 2" 1986-01-01 2004-08-20 2016-03-01 2016-11-09 145 ENSG00000258995 OTTHUMG00000171113 AL137191 NG_002656 PGOHUM00000292693 HGNC:276 @@ -24753,50 +24755,50 @@ HGNC:18500 PARP4P1 poly(ADP-ribose) polymerase family member 4 pseudogene 1 pseu HGNC:37760 PARP4P2 poly(ADP-ribose) polymerase family member 4 pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 poly(ADP-ribose) polymerase family, member 4 pseudogene 2 2010-02-16 2015-11-18 2015-11-18 645771 ENSG00000224976 OTTHUMG00000016486 NG_011399 PGOHUM00000248509 HGNC:37760 HGNC:274 PARP4P3 poly(ADP-ribose) polymerase family member 4 pseudogene 3 pseudogene pseudogene Approved 22q11.1 22q11.1 ADPRTL4 "ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 4|poly(ADP-ribose) polymerase family, member 4 pseudogene 3" 1999-10-29 2010-09-29 2015-11-18 2015-11-18 107133524 ENSG00000249263 OTTHUMG00000142831 NG_046684 10591208 PGOHUM00000246200 HGNC:274 HGNC:26921 PARP6 poly(ADP-ribose) polymerase family member 6 protein-coding gene gene with protein product Approved 15q23 15q23 "pART17|ARTD17" Poly(ADP-ribose) polymerases 684 2004-08-25 2015-11-06 2023-01-20 56965 ENSG00000137817 OTTHUMG00000133443 uc002auc.4 AL390093 NM_020214 CCDS10241 Q2NL67 15273990 MGI:1914537 RGD:1310937 619439 HGNC:26921 "ENST00000569795.6|NM_001323532.2" -HGNC:26124 PARP8 poly(ADP-ribose) polymerase family member 8 protein-coding gene gene with protein product Approved 5q11.1 05q11.1 "FLJ21308|pART16|ARTD16" Poly(ADP-ribose) polymerases 684 2004-08-25 2015-11-06 2023-01-20 79668 ENSG00000151883 OTTHUMG00000096969 uc003joo.3 AL834477 NM_024615 "CCDS82996|CCDS54849|CCDS3954" Q8N3A8 15273990 MGI:1098713 RGD:1587384 HGNC:26124 "ENST00000281631.10|NM_024615.4" +HGNC:26124 PARP8 poly(ADP-ribose) polymerase family member 8 protein-coding gene gene with protein product Approved 5q11.1 05q11.1 "FLJ21308|pART16|ARTD16" Poly(ADP-ribose) polymerases 684 2004-08-25 2015-11-06 2023-01-20 79668 ENSG00000151883 OTTHUMG00000096969 uc003joo.3 AL834477 NM_024615 "CCDS54849|CCDS3954|CCDS82996" Q8N3A8 15273990 MGI:1098713 RGD:1587384 HGNC:26124 "ENST00000281631.10|NM_024615.4" HGNC:24118 PARP9 poly(ADP-ribose) polymerase family member 9 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "BAL|BAL1|ARTD9" "Poly(ADP-ribose) polymerases|Macro domain containing" "684|1693" 2004-09-30 2015-11-06 2023-01-20 83666 ENSG00000138496 OTTHUMG00000159522 uc003efh.5 AF307339 NM_031458 "CCDS54634|CCDS3014|CCDS54633" Q8IXQ6 11110709 MGI:1933117 RGD:1307534 612065 HGNC:24118 "ENST00000682323.1|NM_001146105.2" HGNC:25895 PARP10 poly(ADP-ribose) polymerase family member 10 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FLJ14464|ARTD10" Poly(ADP-ribose) polymerases 684 2004-08-25 2015-11-06 2023-01-20 84875 ENSG00000178685 OTTHUMG00000165408 uc003zal.5 AK027370 NM_032789 "CCDS34960|CCDS83331" Q53GL7 15273990 MGI:3712326 RGD:7744876 609564 HGNC:25895 "ENST00000313028.12|NM_032789.5" -HGNC:1186 PARP11 poly(ADP-ribose) polymerase family member 11 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 ARTD11 C12orf6 chromosome 12 open reading frame 6 Poly(ADP-ribose) polymerases 684 2000-08-24 2004-08-26 2015-11-06 2023-01-20 57097 ENSG00000111224 OTTHUMG00000156442 uc001qml.4 AF263540 NM_001286521 "CCDS8523|CCDS66281" Q9NR21 15273990 MGI:2141505 RGD:1561791 616706 HGNC:1186 "ENST00000228820.9|NM_020367.6" +HGNC:1186 PARP11 poly(ADP-ribose) polymerase family member 11 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 ARTD11 C12orf6 chromosome 12 open reading frame 6 Poly(ADP-ribose) polymerases 684 2000-08-24 2004-08-26 2015-11-06 2023-01-20 57097 ENSG00000111224 OTTHUMG00000156442 uc001qml.4 AF263540 NM_001286521 "CCDS66281|CCDS8523" Q9NR21 15273990 MGI:2141505 RGD:1561791 616706 HGNC:1186 "ENST00000228820.9|NM_020367.6" HGNC:40103 PARP11-AS1 PARP11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.32 12p13.32 Antisense RNAs 1987 2019-09-19 2019-09-19 105369609 ENSG00000256862 OTTHUMG00000168120 NR_183432 HGNC:40103 HGNC:21919 PARP12 poly(ADP-ribose) polymerase family member 12 protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ22693|PARP-12|ZC3H1|ARTD12" ZC3HDC1 zinc finger CCCH-type domain containing 1 "Zinc fingers CCCH-type|Poly(ADP-ribose) polymerases" "73|684" 2003-12-10 2005-06-02 2015-11-06 2023-01-20 64761 ENSG00000059378 OTTHUMG00000157315 uc003vvl.2 AL136766 NM_022750 CCDS5857 Q9H0J9 "11230166|12851707" MGI:2143990 RGD:1308628 612481 HGNC:21919 "ENST00000263549.8|NM_022750.4" HGNC:29232 PARP14 poly(ADP-ribose) polymerase family member 14 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "KIAA1268|pART8|ARTD8|BAL2" "Poly(ADP-ribose) polymerases|Macro domain containing" "684|1693" 2004-08-25 2015-11-06 2023-01-20 54625 ENSG00000173193 OTTHUMG00000159552 uc003efq.5 AB033094 NM_017554 CCDS46894 Q460N5 15273990 MGI:1919489 RGD:1310490 610028 HGNC:29232 "ENST00000474629.7|NM_017554.3" -HGNC:26876 PARP15 poly(ADP-ribose) polymerase family member 15 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "FLJ40597|pART7|ARTD7|BAL3" "Poly(ADP-ribose) polymerases|Macro domain containing" "684|1693" 2004-08-25 2015-11-06 2023-01-20 165631 ENSG00000173200 OTTHUMG00000159523 uc003efm.3 AK097916 NM_152615 "CCDS46893|CCDS77804|CCDS3016|CCDS77803" Q460N3 15273990 612066 HGNC:26876 "ENST00000464300.7|NM_001113523.3" -HGNC:26040 PARP16 poly(ADP-ribose) polymerase family member 16 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "FLJ20509|FLJ25281|pART15|ARTD15" C15orf30 chromosome 15 open reading frame 30 "Poly(ADP-ribose) polymerases|Small nucleolar RNA protein coding host genes" "684|1835" 2004-07-05 2004-08-25 2015-11-06 2023-01-20 54956 ENSG00000138617 OTTHUMG00000133138 uc002aoq.4 AK000516 NM_017851 "CCDS81897|CCDS10204|CCDS92018" Q8N5Y8 15273990 MGI:2446133 RGD:1306243 620391 HGNC:26040 "ENST00000649807.2|NM_001316943.2" -HGNC:26074 PARPBP PARP1 binding protein protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "FLJ20641|PARI" PARP-1 binding protein C12orf48 chromosome 12 open reading frame 48 2006-01-24 2012-01-24 2012-01-24 2023-01-20 55010 ENSG00000185480 OTTHUMG00000167923 uc001tjf.4 AK000648 NM_017915 "CCDS9090|CCDS81729|CCDS81730|CCDS91743|CCDS81728" Q9NWS1 20931645 MGI:1922567 RGD:2314264 613687 HGNC:26074 "ENST00000327680.7|NM_017915.5" +HGNC:26876 PARP15 poly(ADP-ribose) polymerase family member 15 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "FLJ40597|pART7|ARTD7|BAL3" "Poly(ADP-ribose) polymerases|Macro domain containing" "684|1693" 2004-08-25 2015-11-06 2023-01-20 165631 ENSG00000173200 OTTHUMG00000159523 uc003efm.3 AK097916 NM_152615 "CCDS3016|CCDS46893|CCDS77804|CCDS77803" Q460N3 15273990 612066 HGNC:26876 "ENST00000464300.7|NM_001113523.3" +HGNC:26040 PARP16 poly(ADP-ribose) polymerase family member 16 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "FLJ20509|FLJ25281|pART15|ARTD15" C15orf30 chromosome 15 open reading frame 30 "Poly(ADP-ribose) polymerases|Small nucleolar RNA protein coding host genes" "684|1835" 2004-07-05 2004-08-25 2015-11-06 2023-01-20 54956 ENSG00000138617 OTTHUMG00000133138 uc002aoq.4 AK000516 NM_017851 "CCDS92018|CCDS81897|CCDS10204" Q8N5Y8 15273990 MGI:2446133 RGD:1306243 620391 HGNC:26040 "ENST00000649807.2|NM_001316943.2" +HGNC:26074 PARPBP PARP1 binding protein protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "FLJ20641|PARI" PARP-1 binding protein C12orf48 chromosome 12 open reading frame 48 2006-01-24 2012-01-24 2012-01-24 2023-01-20 55010 ENSG00000185480 OTTHUMG00000167923 uc001tjf.4 AK000648 NM_017915 "CCDS81729|CCDS81730|CCDS91743|CCDS9090|CCDS81728" Q9NWS1 20931645 MGI:1922567 RGD:2314264 613687 HGNC:26074 "ENST00000327680.7|NM_017915.5" HGNC:30563 PARS2 prolyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1p32.3 01p32.3 DKFZp727A071 proline tRNA ligase 2, mitochondrial (putative) prolyl-tRNA synthetase 2, mitochondrial (putative) Aminoacyl tRNA synthetases, Class II 132 2005-07-05 2017-08-08 2023-01-20 25973 ENSG00000162396 OTTHUMG00000009915 uc001cxy.4 AK025585 NM_152268 CCDS597 Q7L3T8 "15779907|25629079" MGI:2386296 RGD:1305345 612036 6.1.1.15 HGNC:30563 "ENST00000371279.4|NM_152268.4" HGNC:30563 HGNC:17263 PART1 prostate androgen-regulated transcript 1 non-coding RNA RNA, long non-coding Approved 5q12.1 05q12.1 "DKFZP586D0823|NCRNA00206" non-protein coding RNA 206 prostate androgen-regulated transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2009-09-28 2018-05-16 2018-05-16 25859 ENSG00000152931 OTTHUMG00000162213 uc003jsg.3 AF163475 NR_024617 "10706094|23726844" 604991 PART1 HGNC:17263 HGNC:50886 PARTICL promoter of MAT2A antisense radiation-induced circulating long non-coding RNA non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 PARTICLE Long non-coding RNAs with non-systematic symbols 1992 2015-04-24 2017-08-09 100630918 ENSG00000286532 BC009563 NR_038942 "25900080|28769061" 616350 PARTICL HGNC:50886 HGNC:14652 PARVA parvin alpha protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "FLJ12254|FLJ10793" actopaxin MXRA2 matrix-remodelling associated 2 Parvins 673 2001-04-26 2015-11-20 2023-01-20 55742 ENSG00000197702 OTTHUMG00000165778 uc001mki.5 AF237771 NM_018222 CCDS44541 Q9NVD7 11171322 MGI:1931144 RGD:71021 608120 HGNC:14652 "ENST00000334956.15|NM_018222.5" -HGNC:14653 PARVB parvin beta protein-coding gene gene with protein product Approved 22q13.31 22q13.31 CGI-56 affixin Parvins 673 2001-04-26 2015-11-20 2023-01-20 29780 ENSG00000188677 OTTHUMG00000150665 uc003ben.4 AF151814 NM_001003828 "CCDS14056|CCDS46724|CCDS74874|CCDS58808" Q9HBI1 "10810093|11171322" MGI:2153063 RGD:1311485 608121 HGNC:14653 "ENST00000338758.12|NM_013327.5" +HGNC:14653 PARVB parvin beta protein-coding gene gene with protein product Approved 22q13.31 22q13.31 CGI-56 affixin Parvins 673 2001-04-26 2015-11-20 2023-01-20 29780 ENSG00000188677 OTTHUMG00000150665 uc003ben.4 AF151814 NM_001003828 "CCDS74874|CCDS46724|CCDS14056|CCDS58808" Q9HBI1 "10810093|11171322" MGI:2153063 RGD:1311485 608121 HGNC:14653 "ENST00000338758.12|NM_013327.5" HGNC:14654 PARVG parvin gamma protein-coding gene gene with protein product Approved 22q13.31 22q13.31 Parvins 673 2001-04-26 2015-11-20 2023-03-15 64098 ENSG00000138964 OTTHUMG00000150473 uc011aqe.4 AF237772 NM_022141 CCDS14057 Q9HBI0 11171322 MGI:2158329 RGD:1597417 608122 HGNC:14654 "ENST00000444313.8|NM_022141.7" HGNC:20686 PASD1 PAS domain containing repressor 1 protein-coding gene gene with protein product Approved Xq28 Xq28 CT63 cancer/testis antigen 63 PAS domain containing 1 PAS domain containing 2127 2004-08-10 2017-01-17 2023-01-20 139135 ENSG00000166049 OTTHUMG00000024169 uc004fev.5 AY270020 NM_173493 CCDS35431 Q8IV76 "15122589|15162151|25936801" MGI:2685987 RGD:7496877 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PASD1 300993 HGNC:20686 "ENST00000370357.5|NM_173493.3" -HGNC:17270 PASK PAS domain containing serine/threonine kinase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "PASKIN|KIAA0135|STK37" PAS domain containing 2127 2002-01-09 2023-01-20 23178 ENSG00000115687 OTTHUMG00000133392 uc061ull.1 U79240 NM_015148 "CCDS58759|CCDS58758|CCDS2545" Q96RG2 "11688972|11459942|15148392" MGI:2155936 RGD:1306146 607505 objectId:2139 HGNC:17270 "ENST00000234040.9|NM_015148.4" +HGNC:17270 PASK PAS domain containing serine/threonine kinase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "PASKIN|KIAA0135|STK37" PAS domain containing 2127 2002-01-09 2023-01-20 23178 ENSG00000115687 OTTHUMG00000133392 uc061ull.1 U79240 NM_015148 "CCDS2545|CCDS58759|CCDS58758" Q96RG2 "11688972|11459942|15148392" MGI:2155936 RGD:1306146 607505 objectId:2139 HGNC:17270 "ENST00000234040.9|NM_015148.4" HGNC:24664 PATE1 prostate and testis expressed 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 PATE expressed in prostate and testis "PATE family|LY6/PLAUR domain containing" "674|1226" 2008-12-17 2023-01-20 160065 ENSG00000171053 OTTHUMG00000165855 uc001qct.4 AF462605 NM_138294 CCDS8464 Q8WXA2 "11880645|15798027" MGI:4936886 RGD:2319716 606861 HGNC:24664 "ENST00000305738.10|NM_138294.3" HGNC:32249 PATE2 prostate and testis expressed 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "UNQ3112|LVLF3112|PATE-M" C11orf38 chromosome 11 open reading frame 38 "PATE family|LY6/PLAUR domain containing" "674|1226" 2005-09-18 2008-12-17 2008-12-17 2023-01-20 399967 ENSG00000196844 OTTHUMG00000165856 uc001qcu.5 AY358105 NM_212555 CCDS8465 Q6UY27 MGI:2685692 RGD:2320100 HGNC:32249 "ENST00000358524.8|NM_212555.3" HGNC:35426 PATE3 prostate and testis expressed 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "PATE-DJ|HEL-127" "PATE family|LY6/PLAUR domain containing" "674|1226" 2008-12-17 2023-01-20 100169851 ENSG00000236027 OTTHUMG00000165857 uc009zbs.3 EF426753 NM_001129883 CCDS44764 B3GLJ2 18390568 MGI:4936999 RGD:2320151 HGNC:35426 "ENST00000445202.2|NM_001129883.4" HGNC:35427 PATE4 prostate and testis expressed 4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FLJ41047|PATE-B" "PATE family|LY6/PLAUR domain containing" "674|1226" 2008-12-17 2023-01-20 399968 ENSG00000237353 OTTHUMG00000165235 uc001qcv.4 AK123042 NM_001144874 CCDS44765 P0C8F1 18390568 MGI:1930790 RGD:1311172 HGNC:35427 "ENST00000457514.3|NM_001144874.1" HGNC:28881 PATJ PATJ crumbs cell polarity complex component protein-coding gene gene with protein product Approved 1p31.3 01p31.3 Cipp "inactivation-no-afterpotential D-like|Pals1-associated tight junction" INADL "InaD-like (Drosophila)|PATJ, crumbs cell polarity complex component" "PDZ domain containing|Crumbs complex|MicroRNA protein coding host genes" "1220|1223|1691" 2004-12-23 2016-02-22 2019-01-25 2023-03-15 10207 ENSG00000132849 OTTHUMG00000008560 uc001dab.4 AB044807 NM_170605 "CCDS85980|CCDS617" Q8NI35 "9280290|11374908" MGI:1277960 RGD:1565362 603199 HGNC:28881 "ENST00000642238.2|NM_001350145.3" -HGNC:55256 PATJ-DT PATJ divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Divergent transcripts 1990 2020-09-25 2020-09-25 118732297 ENSG00000271200 +HGNC:55256 PATJ-DT PATJ divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Divergent transcripts 1990 2020-09-25 2020-09-25 118732297 ENSG00000271200 NR_185910 HGNC:26721 PATL1 PAT1 homolog 1, processing body mRNA decay factor protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "FLJ36874|Pat1b" protein associated with topoisomerase II homolog 1 (yeast) 2007-10-18 2016-04-29 2023-01-20 219988 ENSG00000166889 OTTHUMG00000167423 uc001noe.6 AK094193 NM_152716 CCDS44613 Q86TB9 17936923 MGI:2147679 RGD:1305514 614660 HGNC:26721 "ENST00000300146.10|NM_152716.3" HGNC:55501 PATL1-DT PATL1 divergent transcript non-coding RNA RNA, long non-coding Approved 11q12.1 11q12.1 Divergent transcripts 1990 2021-03-17 2021-03-17 120883613 ENSG00000255355 HGNC:33630 PATL2 PAT1 homolog 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 Pat1a protein associated with topoisomerase II homolog 2 (yeast) Armadillo like helical domain containing 1492 2007-10-18 2016-04-29 2023-01-20 197135 ENSG00000229474 OTTHUMG00000171932 uc010uej.3 BC036924 NM_001145112 "CCDS45253|CCDS81873" C9JE40 17936923 MGI:1914828 RGD:1307887 614661 HGNC:33630 "ENST00000682850.1|NM_001387263.1" HGNC:33630 -HGNC:13071 PATZ1 POZ/BTB and AT hook containing zinc finger 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "MAZR|dJ400N23|ZBTB19|ZSG|RIAZ|PATZ" ZNF278 "zinc finger protein 278|POZ (BTB) and AT hook containing zinc finger 1" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1999-10-20 2006-09-19 2016-02-10 2023-01-20 23598 ENSG00000100105 OTTHUMG00000151254 uc003akq.4 AL096880 NM_032052 "CCDS13894|CCDS13896|CCDS46691|CCDS13895" Q9HBE1 "10591208|18241078|18401526" MGI:1891832 RGD:1308337 PATZ1 605165 HGNC:13071 "ENST00000266269.10|NM_014323.3" +HGNC:13071 PATZ1 POZ/BTB and AT hook containing zinc finger 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "MAZR|dJ400N23|ZBTB19|ZSG|RIAZ|PATZ" ZNF278 "zinc finger protein 278|POZ (BTB) and AT hook containing zinc finger 1" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1999-10-20 2006-09-19 2016-02-10 2023-01-20 23598 ENSG00000100105 OTTHUMG00000151254 uc003akq.4 AL096880 NM_032052 "CCDS13895|CCDS13894|CCDS13896|CCDS46691" Q9HBE1 "10591208|18241078|18401526" MGI:1891832 RGD:1308337 PATZ1 605165 HGNC:13071 "ENST00000266269.10|NM_014323.3" HGNC:49670 PAUPAR PAX6 upstream antisense RNA non-coding RNA RNA, long non-coding Approved 11p13 11p13 Long non-coding RNAs with non-systematic symbols 1992 2014-02-01 2018-06-13 103157000 ENSG00000281880 OTTHUMG00000189576 KJ434992 NR_117094 "24488179|29661885" MGI:5543919 HGNC:49670 HGNC:8614 PAWR pro-apoptotic WT1 regulator protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "par-4|PAR4" prostate apoptosis response-4 PRKC, apoptosis, WT1, regulator 1998-06-05 2016-03-10 2023-01-20 5074 ENSG00000177425 OTTHUMG00000170080 uc001syx.4 U63809 NM_002583 CCDS31863 Q96IZ0 "8943350|9790775" MGI:2149961 RGD:69065 601936 HGNC:8614 "ENST00000328827.9|NM_002583.4" HGNC:45201 PAWRP1 pro-apoptotic WT1 regulator pseudogene 1 pseudogene pseudogene Approved 10q23.33 10q23.33 PRKC, apoptosis, WT1, regulator pseudogene 1 2013-03-07 2016-03-10 2016-03-10 100420526 ENSG00000225533 OTTHUMG00000018807 NG_025536 PGOHUM00000261101 HGNC:45201 HGNC:45202 PAWRP2 pro-apoptotic WT1 regulator pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 PRKC, apoptosis, WT1, regulator pseudogene 2 2013-03-07 2016-03-10 2016-03-10 100420535 NG_026355 PGOHUM00000261204 HGNC:45202 HGNC:8615 PAX1 paired box 1 protein-coding gene gene with protein product Approved 20p11.22 20p11.22 paired box gene 1 Paired boxes 675 1992-05-11 2007-07-12 2023-01-20 5075 ENSG00000125813 OTTHUMG00000032034 uc002wsj.4 NM_001257096 "CCDS13146|CCDS74709" P15863 1358810 MGI:97485 RGD:1588548 167411 376593 HGNC:8615 "ENST00000613128.5|NM_001257096.2" HGNC:8615 -HGNC:8616 PAX2 paired box 2 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 PAX-2 paired box gene 2 "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1993-06-07 2007-07-12 2023-01-20 5076 ENSG00000075891 OTTHUMG00000018913 uc001kro.4 NM_000278 "CCDS53569|CCDS7499|CCDS91319|CCDS41561" Q02962 "8431641|7981748" MGI:97486 RGD:1305568 167409 8481 124088 HGNC:8616 "ENST00000355243.8|NM_000278.5" HGNC:8616 -HGNC:8617 PAX3 paired box 3 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "HUP2|PAX-3" WS1 "Waardenburg syndrome 1|paired box gene 3 (Waardenburg syndrome 1)" "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1992-01-14 2007-07-12 2023-01-20 5077 ENSG00000135903 OTTHUMG00000133157 uc002vmv.3 NM_000438 "CCDS46523|CCDS2450|CCDS42826|CCDS2449|CCDS46522|CCDS2448|CCDS42825|CCDS2451" P23760 1347149 MGI:97487 RGD:620431 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PAX3 PAX3 606597 8482 124090 HGNC:8617 "ENST00000392070.7|NM_181458.4" HGNC:8617 +HGNC:8616 PAX2 paired box 2 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 PAX-2 paired box gene 2 "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1993-06-07 2007-07-12 2023-01-20 5076 ENSG00000075891 OTTHUMG00000018913 uc001kro.4 NM_000278 "CCDS91319|CCDS7499|CCDS41561|CCDS53569" Q02962 "8431641|7981748" MGI:97486 RGD:1305568 167409 8481 124088 HGNC:8616 "ENST00000355243.8|NM_000278.5" HGNC:8616 +HGNC:8617 PAX3 paired box 3 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "HUP2|PAX-3" WS1 "Waardenburg syndrome 1|paired box gene 3 (Waardenburg syndrome 1)" "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1992-01-14 2007-07-12 2023-01-20 5077 ENSG00000135903 OTTHUMG00000133157 uc002vmv.3 NM_000438 "CCDS2450|CCDS42826|CCDS2451|CCDS46523|CCDS2449|CCDS2448|CCDS42825|CCDS46522" P23760 1347149 MGI:97487 RGD:620431 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PAX3 PAX3 606597 8482 124090 HGNC:8617 "ENST00000392070.7|NM_181458.4" HGNC:8617 HGNC:8618 PAX4 paired box 4 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 MODY9 paired box gene 4 "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1993-04-07 2007-07-12 2023-03-15 5078 ENSG00000106331 OTTHUMG00000157562 uc010lld.1 NM_001366110 "CCDS94191|CCDS94190" O43316 MGI:97488 RGD:620433 167413 8483 201085 HGNC:8618 "ENST00000639438.3|NM_001366110.1" HGNC:8618 -HGNC:8619 PAX5 paired box 5 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "BSAP|PAX-5" B-cell lineage specific activator "paired box gene 5 (B-cell lineage specific activator protein)|paired box gene 5 (B-cell lineage specific activator)" "PRD class homeoboxes and pseudogenes|Paired boxes|MicroRNA protein coding host genes" "521|675|1691" 1992-11-03 2007-07-12 2023-01-20 5079 ENSG00000196092 OTTHUMG00000019907 uc003zzo.3 NM_001280547 "CCDS65041|CCDS65039|CCDS65044|CCDS65042|CCDS65046|CCDS65043|CCDS65048|CCDS65047|CCDS6607|CCDS65045|CCDS65040" Q02548 "1516825|8431641" MGI:97489 RGD:1565236 LRG_1384|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1384.xml PAX5 167414 8484 366823 HGNC:8619 "ENST00000358127.9|NM_016734.3" HGNC:8619 -HGNC:8620 PAX6 paired box 6 protein-coding gene gene with protein product Approved 11p13 11p13 "D11S812E|AN|WAGR" "aniridia, keratitis|Aniridia 1|Aniridia 2" "AN1|AN2" paired box gene 6 (aniridia, keratitis) "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1986-01-01 2007-07-12 2023-01-20 5080 ENSG00000007372 OTTHUMG00000041447 uc058abq.1 AY707088 NM_001604 "CCDS91455|CCDS31451|CCDS86190|CCDS86189|CCDS31452|CCDS91456" P26367 "1302030|1505982" MGI:97490 RGD:3258 "LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=PAX6|LRG_720|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_720.xml" 607108 8396 124094 HGNC:8620 "ENST00000640368.2|NM_001368894.2" HGNC:8620 +HGNC:8619 PAX5 paired box 5 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "BSAP|PAX-5" B-cell lineage specific activator "paired box gene 5 (B-cell lineage specific activator protein)|paired box gene 5 (B-cell lineage specific activator)" "PRD class homeoboxes and pseudogenes|Paired boxes|MicroRNA protein coding host genes" "521|675|1691" 1992-11-03 2007-07-12 2023-01-20 5079 ENSG00000196092 OTTHUMG00000019907 uc003zzo.3 NM_001280547 "CCDS65039|CCDS65040|CCDS65042|CCDS65047|CCDS6607|CCDS65041|CCDS65044|CCDS65046|CCDS65048|CCDS65043|CCDS65045" Q02548 "1516825|8431641" MGI:97489 RGD:1565236 LRG_1384|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1384.xml PAX5 167414 8484 366823 HGNC:8619 "ENST00000358127.9|NM_016734.3" HGNC:8619 +HGNC:8620 PAX6 paired box 6 protein-coding gene gene with protein product Approved 11p13 11p13 "D11S812E|AN|WAGR" "aniridia, keratitis|Aniridia 1|Aniridia 2" "AN1|AN2" paired box gene 6 (aniridia, keratitis) "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1986-01-01 2007-07-12 2023-01-20 5080 ENSG00000007372 OTTHUMG00000041447 uc058abq.1 AY707088 NM_001604 "CCDS86190|CCDS91456|CCDS91455|CCDS86189|CCDS31452|CCDS31451" P26367 "1302030|1505982" MGI:97490 RGD:3258 "LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=PAX6|LRG_720|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_720.xml" 607108 8396 124094 HGNC:8620 "ENST00000640368.2|NM_001368894.2" HGNC:8620 HGNC:53448 PAX6-AS1 PAX6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p13 11p13 Antisense RNAs 1987 2017-04-19 2017-04-19 440034 NR_033971 HGNC:53448 HGNC:8621 PAX7 paired box 7 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 Hup1 paired box gene 7 "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1992-11-20 2007-07-12 2023-01-20 5081 ENSG00000009709 OTTHUMG00000002433 uc010oct.3 X96743 NM_002584 "CCDS44075|CCDS186|CCDS44074" P23759 "7981748|8431641" MGI:97491 RGD:1564360 PAX7 167410 8485 124100 HGNC:8621 "ENST00000420770.7|NM_001135254.2" HGNC:8621 -HGNC:8622 PAX8 paired box 8 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 PAX-8 paired box gene 8 "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1998-11-16 2007-07-12 2023-03-15 7849 ENSG00000125618 OTTHUMG00000128529 uc010yxt.3 X69699 NM_003466 "CCDS42735|CCDS42736|CCDS46398|CCDS46399" Q06710 "8431641|7981748" MGI:97492 RGD:620434 PAX8 167415 8486 124103 HGNC:8622 "ENST00000429538.8|NM_003466.4" HGNC:8622 +HGNC:8622 PAX8 paired box 8 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 PAX-8 paired box gene 8 "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1998-11-16 2007-07-12 2023-03-15 7849 ENSG00000125618 OTTHUMG00000128529 uc010yxt.3 X69699 NM_003466 "CCDS46398|CCDS42735|CCDS42736|CCDS46399" Q06710 "8431641|7981748" MGI:97492 RGD:620434 PAX8 167415 8486 124103 HGNC:8622 "ENST00000429538.8|NM_003466.4" HGNC:8622 HGNC:49271 PAX8-AS1 PAX8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 Antisense RNAs 1987 2013-10-14 2013-12-06 2013-12-06 2018-04-27 654433 ENSG00000189223 OTTHUMG00000153340 AK130275 NR_015377 "27225188|29693272" PAX8-AS1 HGNC:49271 HGNC:8623 PAX9 paired box 9 protein-coding gene gene with protein product Approved 14q13.3 14q13.3 paired box gene 9 Paired boxes 675 1993-06-07 2007-07-12 2023-01-20 5083 ENSG00000198807 OTTHUMG00000140251 uc001wty.5 AJ238381 NM_001372076 CCDS9662 P55771 7981748 MGI:97493 RGD:1560838 167416 124105 HGNC:8623 "ENST00000361487.7|NM_001372076.1" HGNC:8623 -HGNC:13579 PAXBP1 PAX3 and PAX7 binding protein 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "GCFC|fSAP105" "functional spliceosome-associated protein 105|GC-rich sequence DNA-binding factor candidate" "C21orf66|GCFC1" "chromosome 21 open reading frame 66|GC-rich sequence DNA-binding factor 1" 2001-07-27 2013-01-08 2013-01-08 2023-03-15 94104 ENSG00000159086 OTTHUMG00000064980 uc002yqn.3 AF231920 NM_013329 "CCDS33541|CCDS13619" Q9Y5B6 "11707072|22862948" MGI:1914617 RGD:1584739 617621 HGNC:13579 "ENST00000331923.9|NM_016631.4" +HGNC:13579 PAXBP1 PAX3 and PAX7 binding protein 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "GCFC|fSAP105" "functional spliceosome-associated protein 105|GC-rich sequence DNA-binding factor candidate" "C21orf66|GCFC1" "chromosome 21 open reading frame 66|GC-rich sequence DNA-binding factor 1" 2001-07-27 2013-01-08 2013-01-08 2023-03-15 94104 ENSG00000159086 OTTHUMG00000064980 uc002yqn.3 AF231920 NM_013329 "CCDS13619|CCDS33541" Q9Y5B6 "11707072|22862948" MGI:1914617 RGD:1584739 617621 HGNC:13579 "ENST00000331923.9|NM_016631.4" HGNC:39603 PAXBP1-AS1 PAXBP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 GCFC1-AS1 "GCFC1 antisense RNA 1 (non-protein coding)|GCFC1 antisense RNA 1" Antisense RNAs 1987 2011-03-17 2013-01-08 2013-01-08 2014-11-19 100506215 ENSG00000238197 OTTHUMG00000064979 uc002yqk.4 BC038361 NR_038879 PAXBP1-AS1 HGNC:39603 HGNC:50352 PAXBP1P1 PAX3 and PAX7 binding protein 1 pseudogene 1 pseudogene pseudogene Approved 7q36.2 07q36.2 2014-04-17 2014-04-17 106481704 ENSG00000233489 OTTHUMG00000151475 NG_043245 PGOHUM00000233655 HGNC:50352 HGNC:8624 PAXIP1 PAX interacting protein 1 protein-coding gene gene with protein product Approved 7q36.2 07q36.2 "CAGF29|CAGF28|TNRC2|PTIP" PAXIP1L "PAX transcription activation domain interacting protein 1 like|PAX interacting (with transcription-activation domain) protein 1" 1999-11-25 2005-04-05 2016-03-14 2023-01-20 22976 ENSG00000157212 OTTHUMG00000151322 uc064jnx.1 U80735 NM_007349 CCDS47753 Q6ZW49 9225980 MGI:1890430 RGD:1307547 608254 HGNC:8624 "ENST00000404141.6|NM_007349.4" @@ -24804,15 +24806,15 @@ HGNC:48958 PAXIP1-AS2 PAXIP1 antisense RNA 2 non-coding RNA RNA, long non-coding HGNC:27328 PAXIP1-DT PAXIP1 divergent transcript non-coding RNA RNA, long non-coding Approved 7q36.2 07q36.2 PAXIP1-AS1 PAXIP1 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-07-23 2020-06-12 2020-06-12 2020-06-12 202781 ENSG00000273344 BI438440 NR_028090 31823805 PAXIP1-AS1 HGNC:27328 HGNC:27849 PAXX PAXX non-homologous end joining factor protein-coding gene gene with protein product Approved 9q34.3 09q34.3 XLS "paralog of XRCC4 and XLF|XRCC4-like small protein" C9orf142 chromosome 9 open reading frame 142 2006-01-31 2017-06-09 2019-01-21 2023-01-20 286257 ENSG00000148362 OTTHUMG00000020971 uc004cki.3 BC002613 NM_183241 CCDS7020 Q9BUH6 "25574025|25941166" MGI:2442831 RGD:1306215 616315 HGNC:27849 "ENST00000371620.4|NM_183241.3" HGNC:28790 PBDC1 polysaccharide biosynthesis domain containing 1 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 MGC874 CXorf26 chromosome X open reading frame 26 2004-06-18 2012-11-28 2012-11-28 2023-02-17 51260 ENSG00000102390 OTTHUMG00000021876 uc004ecl.2 BC001220 NM_016500 "CCDS14432|CCDS75995" Q9BVG4 11042152 MGI:1914933 RGD:1562502 HGNC:28790 "ENST00000373358.8|NM_016500.5" -HGNC:18282 PBK PDZ binding kinase protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "TOPK|FLJ14385|Nori-3|SPK|CT84" "T-LAK cell-originated protein kinase|cancer/testis antigen 84" 2005-01-20 2023-01-20 55872 ENSG00000168078 OTTHUMG00000102113 uc003xgi.5 AB027249 NM_018492 "CCDS64858|CCDS6063" Q96KB5 "10781613|10779557" MGI:1289156 RGD:1309565 611210 objectId:2140 HGNC:18282 "ENST00000301905.9|NM_018492.4" +HGNC:18282 PBK PDZ binding kinase protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "TOPK|FLJ14385|Nori-3|SPK|CT84" "T-LAK cell-originated protein kinase|cancer/testis antigen 84" 2005-01-20 2023-01-20 55872 ENSG00000168078 OTTHUMG00000102113 uc003xgi.5 AB027249 NM_018492 "CCDS6063|CCDS64858" Q96KB5 "10781613|10779557" MGI:1289156 RGD:1309565 611210 objectId:2140 HGNC:18282 "ENST00000301905.9|NM_018492.4" HGNC:23301 PBLD phenazine biosynthesis like protein domain containing protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "MAWBP|MAWDBP|FLJ14767" phenazine biosynthesis-like protein domain containing 2006-11-27 2016-04-05 2023-01-20 64081 ENSG00000108187 OTTHUMG00000073949 uc001jns.1 AK027673 NM_022129 "CCDS7277|CCDS44413" P30039 11355021 MGI:1915621 RGD:621263 612189 HGNC:23301 "ENST00000358769.7|NM_022129.4" HGNC:21079 PBOV1 prostate and breast cancer overexpressed 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "UC28|UROC28" 2003-05-20 2023-01-20 59351 ENSG00000254440 OTTHUMG00000167040 uc003qhv.5 AF189269 NM_021635 CCDS5190 Q9GZY1 "12553037|11156405" 605669 HGNC:21079 "ENST00000527246.3|NM_021635.3" -HGNC:30064 PBRM1 polybromo 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "BAF180|PB1|SMARCH1" "Bromodomain containing|PBAF complex" "1232|1605" 2007-03-29 2023-01-20 55193 ENSG00000163939 OTTHUMG00000152663 uc003des.3 BC015323 NM_018165 "CCDS87087|CCDS43099|CCDS2860|CCDS93285|CCDS93286|CCDS2859" Q86U86 "11078522|11483580" MGI:1923998 RGD:1565549 PBRM1 606083 434716 objectId:2738 HGNC:30064 -HGNC:8632 PBX1 PBX homeobox 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "pre-B-cell leukemia transcription factor 1|pre-B-cell leukemia homeobox 1" TALE class homeoboxes and pseudogenes 526 1990-09-10 2016-05-17 2023-01-20 5087 ENSG00000185630 OTTHUMG00000034307 uc001gct.4 M86546 NM_002585 "CCDS55654|CCDS1246|CCDS55653" P40424 MGI:97495 RGD:1308213 PBX1 176310 8487 171647 HGNC:8632 "ENST00000420696.7|NM_002585.4" HGNC:8632 +HGNC:30064 PBRM1 polybromo 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "BAF180|PB1|SMARCH1" "Bromodomain containing|PBAF complex" "1232|1605" 2007-03-29 2023-01-20 55193 ENSG00000163939 OTTHUMG00000152663 uc003des.3 BC015323 NM_018165 "CCDS2859|CCDS93286|CCDS87087|CCDS43099|CCDS93285|CCDS2860" Q86U86 "11078522|11483580" MGI:1923998 RGD:1565549 PBRM1 606083 434716 objectId:2738 HGNC:30064 +HGNC:8632 PBX1 PBX homeobox 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "pre-B-cell leukemia transcription factor 1|pre-B-cell leukemia homeobox 1" TALE class homeoboxes and pseudogenes 526 1990-09-10 2016-05-17 2023-01-20 5087 ENSG00000185630 OTTHUMG00000034307 uc001gct.4 M86546 NM_002585 "CCDS1246|CCDS55653|CCDS55654" P40424 MGI:97495 RGD:1308213 PBX1 176310 8487 171647 HGNC:8632 "ENST00000420696.7|NM_002585.4" HGNC:8632 HGNC:40425 PBX1-AS1 PBX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Antisense RNAs 1987 2019-09-19 2019-09-19 100505795 ENSG00000233693 OTTHUMG00000034481 NR_038072 HGNC:40425 HGNC:8633 PBX2 PBX homeobox 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "G17|HOX12|PBX2MHC" "pre-B-cell leukemia transcription factor 2|pre-B-cell leukemia homeobox 2" TALE class homeoboxes and pseudogenes 526 1994-12-13 2016-05-17 2023-01-20 5089 ENSG00000204304 OTTHUMG00000031116 uc003oav.2 NM_002586 CCDS4748 P40425 7835890 MGI:1341793 RGD:1303084 176311 8413 HGNC:8633 "ENST00000375050.6|NM_002586.5" HGNC:8635 PBX2P1 PBX homeobox 2 pseudogene 1 pseudogene pseudogene Approved 3q24 03q24 "PBX2|PBXP1" "pre-B-cell leukemia transcription factor pseudogene 1|pre-B-cell leukemia homeobox 2 pseudogene 1" TALE class homeoboxes and pseudogenes 526 1990-09-10 2007-01-30 2016-05-17 2016-05-17 5088 ENSG00000244171 OTTHUMG00000159350 NG_002434 1682799 8594 HGNC:8635 -HGNC:8634 PBX3 PBX homeobox 3 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "pre-B-cell leukemia transcription factor 3|pre-B-cell leukemia homeobox 3" TALE class homeoboxes and pseudogenes 526 1990-09-10 2016-05-17 2023-01-20 5090 ENSG00000167081 OTTHUMG00000020684 uc004bqb.4 NM_001134778 "CCDS48021|CCDS94482|CCDS6865|CCDS83416" P40426 1682799 MGI:97496 RGD:1307198 176312 8488 HGNC:8634 "ENST00000373489.10|NM_006195.6" +HGNC:8634 PBX3 PBX homeobox 3 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "pre-B-cell leukemia transcription factor 3|pre-B-cell leukemia homeobox 3" TALE class homeoboxes and pseudogenes 526 1990-09-10 2016-05-17 2023-01-20 5090 ENSG00000167081 OTTHUMG00000020684 uc004bqb.4 NM_001134778 "CCDS94482|CCDS6865|CCDS48021|CCDS83416" P40426 1682799 MGI:97496 RGD:1307198 176312 8488 HGNC:8634 "ENST00000373489.10|NM_006195.6" HGNC:24638 PBX3-DT PBX3 divergent transcript non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 Divergent transcripts 1990 2021-07-28 2021-07-28 51145 ENSG00000229582 OTTHUMG00000020682 NR_122032 HGNC:13403 PBX4 PBX homeobox 4 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "pre-B-cell leukemia transcription factor 4|pre-B-cell leukemia homeobox 4" TALE class homeoboxes and pseudogenes 526 2001-03-14 2016-05-17 2023-01-20 80714 ENSG00000105717 OTTHUMG00000172310 uc002nmy.4 AJ300182 NM_025245 CCDS12406 Q9BYU1 MGI:1931321 RGD:1305100 608127 8543 HGNC:13403 "ENST00000251203.14|NM_025245.3" HGNC:21199 PBXIP1 PBX homeobox interacting protein 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 HPIP "pre-B-cell leukemia transcription factor interacting protein 1|pre-B-cell leukemia homeobox interacting protein 1" 2003-05-28 2016-05-17 2023-01-20 57326 ENSG00000163346 OTTHUMG00000037369 uc001ffr.4 AF221521 NM_020524 "CCDS1074|CCDS81382" Q96AQ6 "7505766|10825160" MGI:2441670 RGD:1305180 618819 HGNC:21199 "ENST00000368463.8|NM_020524.4" @@ -24833,36 +24835,36 @@ HGNC:8646 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 protein-coding gene g HGNC:24474 PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "DCOHM|DCOH2" "6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2|pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2" MicroRNA protein coding host genes 1691 2005-02-08 2016-01-27 2023-01-20 84105 ENSG00000132570 OTTHUMG00000163070 uc032vlp.1 AF499009 NM_032151 CCDS43364 Q9H0N5 "15182178|11980910" MGI:1919812 609836 4.2.1.96 HGNC:24474 "ENST00000254908.11|NM_032151.5" HGNC:8647 PCBP1 poly(rC) binding protein 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "HNRPE1|hnRNP-E1|HNRPX|hnRNP-X" heterogeneous nuclear ribonucleoprotein E1 poly(rC)-binding protein 1 Heterogeneous nuclear ribonucleoproteins 1950 1996-06-07 2001-11-28 2023-01-20 5093 ENSG00000169564 OTTHUMG00000129645 uc002sgf.4 NM_006196 CCDS1898 Q15365 8833161 MGI:1345635 RGD:1561319 601209 HGNC:8647 "ENST00000303577.7|NM_006196.4" HGNC:42948 PCBP1-AS1 PCBP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 Linc-GALH Gankyrin Associated LincRNA in Hepatocellular carcinoma PCBP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-08 2012-08-15 2023-02-07 400960 ENSG00000179818 OTTHUMG00000153728 uc061kby.1 NR_033872 "28621149|30692513" PCBP1-AS1 HGNC:42948 -HGNC:8648 PCBP2 poly(rC) binding protein 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HNRPE2|hnRNP-E2|HNRNPE2" heterogenous nuclear ribonucleoprotein E2 poly(rC)-binding protein 2 Heterogeneous nuclear ribonucleoproteins 1950 1996-06-07 2001-11-28 2023-01-20 5094 ENSG00000197111 OTTHUMG00000169439 uc001sdb.5 BC035420 NM_005016 "CCDS44900|CCDS44903|CCDS44902|CCDS44904|CCDS55830|CCDS44901|CCDS8859" Q15366 8833161 MGI:108202 RGD:1309626 601210 HGNC:8648 "ENST00000546463.6|NM_031989.5" +HGNC:8648 PCBP2 poly(rC) binding protein 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HNRPE2|hnRNP-E2|HNRNPE2" heterogenous nuclear ribonucleoprotein E2 poly(rC)-binding protein 2 Heterogeneous nuclear ribonucleoproteins 1950 1996-06-07 2001-11-28 2023-01-20 5094 ENSG00000197111 OTTHUMG00000169439 uc001sdb.5 BC035420 NM_005016 "CCDS44900|CCDS8859|CCDS55830|CCDS44904|CCDS44901|CCDS44902|CCDS44903" Q15366 8833161 MGI:108202 RGD:1309626 601210 HGNC:8648 "ENST00000546463.6|NM_031989.5" HGNC:49150 PCBP2-OT1 PCBP2 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 "TUC338|uc.338|TUC.338" transcribed ultra-conserved region 338 PCBP2 overlapping transcript 1 (non-protein coding) Overlapping transcripts 1988 2013-09-16 2014-06-02 2018-08-15 102157401 ENSG00000282977 OTTHUMG00000189729 KF041153 NR_109828 "21187392|27154519" HGNC:49150 HGNC:8649 PCBP2P1 PCBP2 pseudogene 1 pseudogene pseudogene Approved 21q22.2 21q22.2 "poly(rC)-binding protein 2, pseudogene 1|poly(rC) binding protein 2 pseudogene 1" 2000-05-23 2022-11-02 2022-11-02 101060045 ENSG00000235701 OTTHUMG00000066029 NG_000916 PGOHUM00000239084 HGNC:8649 HGNC:8650 PCBP2P2 PCBP2 pseudogene 2 pseudogene pseudogene Approved 8q21.12 08q21.12 "poly(rC)-binding protein 2, pseudogene 2|poly(rC) binding protein 2 pseudogene 2" 2000-08-31 2022-11-02 2022-11-02 286157 ENSG00000253341 OTTHUMG00000164512 NG_008071 10936052 PGOHUM00000249392 HGNC:8650 HGNC:39032 PCBP2P3 PCBP2 pseudogene 3 pseudogene pseudogene Approved 5q14.3 05q14.3 poly(rC) binding protein 2 pseudogene 3 2010-09-24 2022-11-02 2022-11-02 100131236 ENSG00000248826 OTTHUMG00000162612 NG_021857 PGOHUM00000235309 HGNC:39032 HGNC:56564 PCBP2P4 PCBP2 pseudogene 4 pseudogene pseudogene Approved 3q25.31 03q25.31 2022-11-02 2022-11-02 2022-11-02 2022-11-02 100420048 ENSG00000270981 NG_025651 PGOHUM00000299245 -HGNC:8651 PCBP3 poly(rC) binding protein 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 FLJ44028 "PCBP3-OT1|PCBP3OT" "poly(rC)-binding protein 3|PCBP3 overlapping transcript 1|poly(rC) binding protein 3 overlapping transcript|PCBP3 overlapping transcript (non-protein coding)" 2000-05-23 2001-11-28 2023-01-20 54039 ENSG00000183570 OTTHUMG00000090399 uc002zhq.3 AF176329 NM_001130141 "CCDS42974|CCDS86993|CCDS86994|CCDS46652" P57721 10936052 MGI:1890470 RGD:1307430 608502 HGNC:8651 "ENST00000681687.1|NM_001384156.1" +HGNC:8651 PCBP3 poly(rC) binding protein 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 FLJ44028 "PCBP3-OT1|PCBP3OT" "poly(rC)-binding protein 3|PCBP3 overlapping transcript 1|poly(rC) binding protein 3 overlapping transcript|PCBP3 overlapping transcript (non-protein coding)" 2000-05-23 2001-11-28 2023-01-20 54039 ENSG00000183570 OTTHUMG00000090399 uc002zhq.3 AF176329 NM_001130141 "CCDS86994|CCDS46652|CCDS42974|CCDS86993" P57721 10936052 MGI:1890470 RGD:1307430 608502 HGNC:8651 "ENST00000681687.1|NM_001384156.1" HGNC:40426 PCBP3-AS1 PCBP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Antisense RNAs 1987 2019-09-19 2019-09-19 100129027 ENSG00000205424 OTTHUMG00000090417 NR_038876 HGNC:40426 -HGNC:8652 PCBP4 poly(rC) binding protein 4 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "MCG10|LIP4" "RNA binding protein MCG10|LYST-interacting protein|alphaCP-4 protein" poly(rC)-binding protein 4 2000-08-31 2001-11-28 2023-03-15 57060 ENSG00000090097 OTTHUMG00000157366 uc003dch.3 AF176330 NM_020418 "CCDS2839|CCDS87085|CCDS2840" P57723 10936052 MGI:1890471 RGD:1307910 608503 HGNC:8652 "ENST00000461554.6|NM_001174100.2" +HGNC:8652 PCBP4 poly(rC) binding protein 4 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "MCG10|LIP4" "RNA binding protein MCG10|LYST-interacting protein|alphaCP-4 protein" poly(rC)-binding protein 4 2000-08-31 2001-11-28 2023-03-15 57060 ENSG00000090097 OTTHUMG00000157366 uc003dch.3 AF176330 NM_020418 "CCDS87085|CCDS2840|CCDS2839" P57723 10936052 MGI:1890471 RGD:1307910 608503 HGNC:8652 "ENST00000461554.6|NM_001174100.2" HGNC:8653 PCCA propionyl-CoA carboxylase subunit alpha protein-coding gene gene with protein product Approved 13q32.3 13q32.3 propionyl Coenzyme A carboxylase, alpha polypeptide 1986-01-01 2018-04-23 2023-01-20 5095 ENSG00000175198 OTTHUMG00000017284 uc001voo.4 X14608 NM_000282 "CCDS45065|CCDS9496|CCDS53878" P05165 1427880 MGI:97499 RGD:3264 Propionyl CoA Carboxylase Page|http://cbs.lf1.cuni.cz/pcc/pccmain.htm 232000 124115 objectId:1266 6.4.1.3 HGNC:8653 "ENST00000376285.6|NM_000282.4" HGNC:8653 HGNC:39901 PCCA-AS1 PCCA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 PCCA antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2014-11-19 100885777 ENSG00000234650 OTTHUMG00000017286 uc058yan.1 NR_047686 PCCA-AS1 HGNC:39901 HGNC:53266 PCCA-DT PCCA divergent transcript non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 Divergent transcripts 1990 2019-06-17 2019-06-17 105370333 ENSG00000274605 OTTHUMG00000187284 NR_132422 HGNC:53266 HGNC:8654 PCCB propionyl-CoA carboxylase subunit beta protein-coding gene gene with protein product Approved 3q22.3 03q22.3 propionyl Coenzyme A carboxylase, beta polypeptide 1986-01-01 2018-04-23 2023-01-20 5096 ENSG00000114054 OTTHUMG00000159792 uc003eqy.3 NM_000532 "CCDS54643|CCDS3089" P05166 2895916 MGI:1914154 RGD:3265 Propionyl CoA Carboxylase Page|http://cbs.lf1.cuni.cz/pcc/pccmain.htm 232050 124117 objectId:1267 6.4.1.3 HGNC:8654 "ENST00000251654.9|NM_000532.5" HGNC:8654 -HGNC:8655 PCDH1 protocadherin 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 pc42 protocadherin 1 (cadherin-like 1) Non-clustered protocadherins 21 1994-12-12 2007-02-12 2023-01-20 5097 ENSG00000156453 OTTHUMG00000129661 uc003llp.4 AK075233 NM_032420 "CCDS4267|CCDS43375" Q08174 8508762 MGI:104692 RGD:1308490 603626 HGNC:8655 "ENST00000287008.8|NM_032420.5" -HGNC:8659 PCDH7 protocadherin 7 protein-coding gene gene with protein product Approved 4p15.1 04p15.1 "BH-Pcdh|PPP1R120" protein phosphatase 1, regulatory subunit 120 BH-protocadherin (brain-heart) "Non-clustered protocadherins|Protein phosphatase 1 regulatory subunits" "21|694" 1997-10-30 2007-02-12 2023-03-15 5099 ENSG00000169851 OTTHUMG00000160364 uc003gsk.2 AB006755 "NM_032457|NM_002589" "CCDS93490|CCDS33971" O60245 9615233 MGI:1860487 RGD:1303209 602988 HGNC:8659 "ENST00000695919.1|NM_001173523.2" +HGNC:8655 PCDH1 protocadherin 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 pc42 protocadherin 1 (cadherin-like 1) Non-clustered protocadherins 21 1994-12-12 2007-02-12 2023-01-20 5097 ENSG00000156453 OTTHUMG00000129661 uc003llp.4 AK075233 NM_032420 "CCDS43375|CCDS4267" Q08174 8508762 MGI:104692 RGD:1308490 603626 HGNC:8655 "ENST00000287008.8|NM_032420.5" +HGNC:8659 PCDH7 protocadherin 7 protein-coding gene gene with protein product Approved 4p15.1 04p15.1 "BH-Pcdh|PPP1R120" protein phosphatase 1, regulatory subunit 120 BH-protocadherin (brain-heart) "Non-clustered protocadherins|Protein phosphatase 1 regulatory subunits" "21|694" 1997-10-30 2007-02-12 2023-03-15 5099 ENSG00000169851 OTTHUMG00000160364 uc003gsk.2 AB006755 "NM_032457|NM_002589" "CCDS33971|CCDS93490" O60245 9615233 MGI:1860487 RGD:1303209 602988 HGNC:8659 "ENST00000695919.1|NM_001173523.2" HGNC:8660 PCDH8 protocadherin 8 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "PAPC|ARCADLIN" Non-clustered protocadherins 21 1998-04-21 2023-01-20 5100 ENSG00000136099 OTTHUMG00000016979 uc001vhi.4 AF061573 NM_002590 "CCDS9439|CCDS9438" O95206 "9787079|9315676" MGI:1306800 RGD:69350 603580 470834 HGNC:8660 "ENST00000377942.7|NM_002590.4" HGNC:39937 PCDH8P1 protocadherin 8 pseudogene 1 pseudogene pseudogene Approved 13q14.3 13q14.3 2011-04-13 2011-04-13 100133285 ENSG00000225510 OTTHUMG00000016982 NG_011534 PGOHUM00000248601 HGNC:39937 -HGNC:8661 PCDH9 protocadherin 9 protein-coding gene gene with protein product Approved 13q21.32 13q21.32 Non-clustered protocadherins 21 1998-04-21 2023-01-20 5101 ENSG00000184226 OTTHUMG00000017040 uc001vik.4 AF169692 NM_203487 "CCDS81769|CCDS81770|CCDS9444|CCDS9443" Q9HC56 9787079 MGI:1306801 RGD:1306348 603581 HGNC:8661 "ENST00000377865.7|NM_203487.3" -HGNC:39897 PCDH9-AS1 PCDH9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 PCDH9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2014-11-19 100874065 ENSG00000234527 OTTHUMG00000017034 uc058xjt.1 PCDH9-AS1 +HGNC:8661 PCDH9 protocadherin 9 protein-coding gene gene with protein product Approved 13q21.32 13q21.32 Non-clustered protocadherins 21 1998-04-21 2023-01-20 5101 ENSG00000184226 OTTHUMG00000017040 uc001vik.4 AF169692 NM_203487 "CCDS81770|CCDS9443|CCDS81769|CCDS9444" Q9HC56 9787079 MGI:1306801 RGD:1306348 603581 HGNC:8661 "ENST00000377865.7|NM_203487.3" +HGNC:39897 PCDH9-AS1 PCDH9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 PCDH9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2014-11-19 100874065 ENSG00000234527 OTTHUMG00000017034 uc058xjt.1 NR_046528 PCDH9-AS1 HGNC:39896 PCDH9-AS2 PCDH9 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 PCDH9 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2014-11-19 100874064 ENSG00000228842 OTTHUMG00000017037 uc031qmb.1 NR_046527 PCDH9-AS2 HGNC:39896 HGNC:40427 PCDH9-AS3 PCDH9 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 PCDH9 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874086 ENSG00000225263 OTTHUMG00000017038 uc031qmc.2 NR_046636 PCDH9-AS3 HGNC:40427 HGNC:40428 PCDH9-AS4 PCDH9 antisense RNA 4 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 PCDH9 antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874087 ENSG00000233840 OTTHUMG00000017036 uc032ais.2 NR_046637 PCDH9-AS4 HGNC:40428 HGNC:13404 PCDH10 protocadherin 10 protein-coding gene gene with protein product Approved 4q28.3 04q28.3 "OL-PCDH|KIAA1400" Non-clustered protocadherins 21 2001-06-25 2023-01-20 57575 ENSG00000138650 OTTHUMG00000161301 uc003iha.4 AB037821 NM_032961 "CCDS34063|CCDS75192" Q9P2E7 10835267 MGI:1338042 RGD:1565811 608286 HGNC:13404 "ENST00000264360.7|NM_032961.3" HGNC:53036 PCDH10-DT PCDH10 divergent transcript non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Divergent transcripts 1990 2021-04-07 2021-04-07 101927359 ENSG00000250241 OTTHUMG00000161299 NR_125885 -HGNC:8656 PCDH11X protocadherin 11 X-linked protein-coding gene gene with protein product Approved Xq21.31 Xq21.31 "PCDH-X|PCDHX|PPP1R119" protein phosphatase 1, regulatory subunit 119 PCDH11 protocadherin 11 "Non-clustered protocadherins|Protein phosphatase 1 regulatory subunits" "21|694" 2000-02-17 2002-05-24 2002-05-22 2023-03-15 27328 ENSG00000102290 OTTHUMG00000021965 uc004efk.3 AB026187 NM_032969 "CCDS55460|CCDS55458|CCDS55461|CCDS14462|CCDS55459|CCDS14461" Q9BZA7 10644456 MGI:2442849 RGD:1562864 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCDH11X 300246 HGNC:8656 "ENST00000682573.1|NM_032968.5" -HGNC:15813 PCDH11Y protocadherin 11 Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 PCDHY PCDH22 protocadherin 22 Non-clustered protocadherins 21 2001-06-15 2002-05-24 2002-05-22 2023-01-20 83259 ENSG00000099715 OTTHUMG00000035105 uc004fqo.5 AF332217 NM_032973 "CCDS14777|CCDS94706|CCDS14776|CCDS76066" Q9BZA8 "10644456|11003707" MGI:2442849 400022 HGNC:15813 "ENST00000698851.1|NM_001395587.1" +HGNC:8656 PCDH11X protocadherin 11 X-linked protein-coding gene gene with protein product Approved Xq21.31 Xq21.31 "PCDH-X|PCDHX|PPP1R119" protein phosphatase 1, regulatory subunit 119 PCDH11 protocadherin 11 "Non-clustered protocadherins|Protein phosphatase 1 regulatory subunits" "21|694" 2000-02-17 2002-05-24 2002-05-22 2023-03-15 27328 ENSG00000102290 OTTHUMG00000021965 uc004efk.3 AB026187 NM_032969 "CCDS14462|CCDS55458|CCDS14461|CCDS55461|CCDS55459|CCDS55460" Q9BZA7 10644456 MGI:2442849 RGD:1562864 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCDH11X 300246 HGNC:8656 "ENST00000682573.1|NM_032968.5" +HGNC:15813 PCDH11Y protocadherin 11 Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 PCDHY PCDH22 protocadherin 22 Non-clustered protocadherins 21 2001-06-15 2002-05-24 2002-05-22 2023-01-20 83259 ENSG00000099715 OTTHUMG00000035105 uc004fqo.5 AF332217 NM_032973 "CCDS14777|CCDS14776|CCDS76066|CCDS94706" Q9BZA8 "10644456|11003707" MGI:2442849 400022 HGNC:15813 "ENST00000698851.1|NM_001395587.1" HGNC:8657 PCDH12 protocadherin 12 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 VE-cadherin-2 Non-clustered protocadherins 21 2000-06-28 2023-01-20 51294 ENSG00000113555 OTTHUMG00000129658 uc003llx.4 AF231025 NM_016580 CCDS4269 Q9NPG4 "10716726|10380929" MGI:1855700 RGD:619917 605622 HGNC:8657 "ENST00000231484.4|NM_016580.4" HGNC:8657 -HGNC:14674 PCDH15 protocadherin related 15 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 CDHR15 cadherin-related family member 15 "USH1F|DFNB23" "deafness, autosomal recessive 23|protocadherin 15" "Cadherin related|MicroRNA protein coding host genes" "24|1691" 2001-02-27 2016-06-08 2023-03-15 65217 ENSG00000150275 OTTHUMG00000018259 uc057tid.1 AY029205 NM_033056 "CCDS86093|CCDS73135|CCDS44400|CCDS91245|CCDS73136|CCDS73138|CCDS44403|CCDS44401|CCDS7248|CCDS86094|CCDS73137|CCDS44404|CCDS86095|CCDS73134" Q96QU1 "11398101|14570705" MGI:1891428 RGD:1590969 "Mutations of the Protocadherin 15 Gene|http://www.retina-international.org/files/sci-news/pcdhmut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=PCDH15" 605514 124119 HGNC:14674 "ENST00000644397.2|NM_001384140.1" HGNC:14674 +HGNC:14674 PCDH15 protocadherin related 15 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 CDHR15 cadherin-related family member 15 "USH1F|DFNB23" "deafness, autosomal recessive 23|protocadherin 15" "Cadherin related|MicroRNA protein coding host genes" "24|1691" 2001-02-27 2016-06-08 2023-03-15 65217 ENSG00000150275 OTTHUMG00000018259 uc057tid.1 AY029205 NM_033056 "CCDS73137|CCDS44400|CCDS86094|CCDS86093|CCDS44403|CCDS44401|CCDS73136|CCDS73134|CCDS44404|CCDS86095|CCDS73138|CCDS73135|CCDS7248|CCDS91245" Q96QU1 "11398101|14570705" MGI:1891428 RGD:1590969 "Mutations of the Protocadherin 15 Gene|http://www.retina-international.org/files/sci-news/pcdhmut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=PCDH15" 605514 124119 HGNC:14674 "ENST00000644397.2|NM_001384140.1" HGNC:14674 HGNC:14267 PCDH17 protocadherin 17 protein-coding gene gene with protein product Approved 13q21.1 13q21.1 "PCDH68|PCH68" Non-clustered protocadherins 21 2000-12-19 2023-01-20 27253 ENSG00000118946 OTTHUMG00000016992 uc001vhq.2 AF029343 NM_001040429 CCDS31986 O14917 10835267 MGI:2684924 RGD:1304753 611760 HGNC:14267 "ENST00000377918.8|NM_001040429.3" -HGNC:14268 PCDH18 protocadherin 18 protein-coding gene gene with protein product Approved 4q28.3 04q28.3 "KIAA1562|PCDH68L" Non-clustered protocadherins 21 2000-12-19 2023-01-20 54510 ENSG00000189184 OTTHUMG00000161348 uc003ihe.5 AL137471 NM_019035 "CCDS75193|CCDS34064" Q9HCL0 "10835267|11549318" MGI:1920423 RGD:1305870 608287 HGNC:14268 "ENST00000344876.9|NM_019035.5" +HGNC:14268 PCDH18 protocadherin 18 protein-coding gene gene with protein product Approved 4q28.3 04q28.3 "KIAA1562|PCDH68L" Non-clustered protocadherins 21 2000-12-19 2023-01-20 54510 ENSG00000189184 OTTHUMG00000161348 uc003ihe.5 AL137471 NM_019035 "CCDS34064|CCDS75193" Q9HCL0 "10835267|11549318" MGI:1920423 RGD:1305870 608287 HGNC:14268 "ENST00000344876.9|NM_019035.5" HGNC:14270 PCDH19 protocadherin 19 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "KIAA1313|EIEE9" EFMR epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) Non-clustered protocadherins 21 2001-02-02 2023-01-20 57526 ENSG00000165194 OTTHUMG00000022000 uc004efx.5 AB037734 NM_020766 "CCDS43976|CCDS48141|CCDS55462" Q8TAB3 "11549318|18469813|19752159" MGI:2685563 RGD:1565392 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCDH19|LRG_843|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_843.xml" 300460 168339 HGNC:14270 "ENST00000373034.8|NM_001184880.2" HGNC:14270 HGNC:14257 PCDH20 protocadherin 20 protein-coding gene gene with protein product Approved 13q21.2 13q21.2 "PCDH13|FLJ22218" Non-clustered protocadherins 21 2000-12-14 2023-01-20 64881 ENSG00000280165 OTTHUMG00000017012 uc001vid.5 AF169693 NM_022843 CCDS9442 Q8N6Y1 MGI:2443376 RGD:1306297 614449 HGNC:14257 "ENST00000409204.5|NM_022843.4" HGNC:8662 PCDHA@ protocadherin alpha cluster, complex locus protein-coding gene gene with protein product Approved 5q31 05q31 CNR1 CNRS1 protocadherin alpha cluster Clustered protocadherins 20 1999-11-26 2010-11-26 2016-10-24 56117 NG_000016 "10662547|10380929" 604966 HGNC:8662 @@ -24871,13 +24873,13 @@ HGNC:8668 PCDHA2 protocadherin alpha 2 other complex locus constituent Approved HGNC:8669 PCDHA3 protocadherin alpha 3 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-ALPHA3 KIAA0345-like 11 Clustered protocadherins 20 2000-06-28 2023-03-15 56145 ENSG00000255408 OTTHUMG00000163357 uc003lhf.2 AF152481 NM_018906 CCDS54915 Q9Y5H8 10380929 MGI:2447313 RGD:620336 606309 HGNC:8669 "ENST00000522353.3|NM_018906.3" HGNC:8670 PCDHA4 protocadherin alpha 4 other complex locus constituent Approved 5q31.3 05q31.3 "CNR1|CRNR1|PCDH-ALPHA4|CNRN1" ortholog of mouse CNR1, KIAA0345-like 10 Clustered protocadherins 20 2000-06-28 2023-03-15 56144 ENSG00000204967 OTTHUMG00000163360 uc003lhi.4 AF152482 NM_018907 CCDS54916 Q9UN74 "10380929|10662547" "MGI:1298406|MGI:5610241" RGD:620337 606310 HGNC:8670 "ENST00000530339.2|NM_018907.4" HGNC:8671 PCDHA5 protocadherin alpha 5 other complex locus constituent Approved 5q31.3 05q31.3 "CNR6|CRNR6|CNRN6|PCDH-ALPHA5" "ortholog of mouse CNR6|KIAA0345-like 9" CNRS6 Clustered protocadherins 20 2000-06-28 2023-03-15 56143 ENSG00000204965 OTTHUMG00000163367 uc003lhl.2 AF152483 NM_018908 CCDS54917 Q9Y5H7 "10380929|10662547" MGI:1298371 RGD:735200 606311 HGNC:8671 "ENST00000529859.2|NM_018908.3" -HGNC:8672 PCDHA6 protocadherin alpha 6 other complex locus constituent Approved 5q31.3 05q31.3 "CNR2|CRNR2|PCDH-ALPHA6" KIAA0345-like 8 CNRS2 Clustered protocadherins 20 2000-06-28 2023-03-15 56142 ENSG00000081842 OTTHUMG00000163353 uc003lho.4 AF152484 NM_018909 "CCDS47281|CCDS47282" Q9UN73 "10380929|10662547" MGI:1298367 RGD:735165 606312 HGNC:8672 "ENST00000529310.6|NM_018909.4" +HGNC:8672 PCDHA6 protocadherin alpha 6 other complex locus constituent Approved 5q31.3 05q31.3 "CNR2|CRNR2|PCDH-ALPHA6" KIAA0345-like 8 CNRS2 Clustered protocadherins 20 2000-06-28 2023-03-15 56142 ENSG00000081842 OTTHUMG00000163353 uc003lho.4 AF152484 NM_018909 "CCDS47282|CCDS47281" Q9UN73 "10380929|10662547" MGI:1298367 RGD:735165 606312 HGNC:8672 "ENST00000529310.6|NM_018909.4" HGNC:8673 PCDHA7 protocadherin alpha 7 other complex locus constituent Approved 5q31.3 05q31.3 "CNR4|CRNR4" "KIAA0345-like 7|ortholog to mouse CNR4" CNRS4 Clustered protocadherins 20 2000-06-28 2023-03-15 56141 ENSG00000204963 OTTHUMG00000163371 uc003lhq.2 AF152485 NM_018910 CCDS54918 Q9UN72 "10380929|10662547" MGI:1298369 RGD:735055 606313 HGNC:8673 "ENST00000525929.2|NM_018910.3" HGNC:8674 PCDHA8 protocadherin alpha 8 other complex locus constituent Approved 5q31.3 05q31.3 KIAA0345-like 6 Clustered protocadherins 20 2000-06-28 2023-03-15 56140 ENSG00000204962 OTTHUMG00000163354 uc003lhs.2 AF152486 NM_018911 CCDS54919 Q9Y5H6 10380929 MGI:1298367 RGD:620338 606314 HGNC:8674 "ENST00000531613.2|NM_018911.3" HGNC:8675 PCDHA9 protocadherin alpha 9 other complex locus constituent Approved 5q31.3 05q31.3 "KIAA0345|PCDH-ALPHA9" KIAA0345-like 5 Clustered protocadherins 20 2000-06-28 2023-03-15 9752 ENSG00000204961 OTTHUMG00000163373 uc003lhu.3 AF152487 NM_031857 CCDS54920 Q9Y5H5 10380929 MGI:2681879 RGD:735153 606315 HGNC:8675 "ENST00000532602.2|NM_031857.2" -HGNC:8664 PCDHA10 protocadherin alpha 10 other complex locus constituent Approved 5q31.3 05q31.3 "CNR8|CRNR8|CNRN8|PCDH-ALPHA10" "KIAA0345-like 4|ortholog to mouse CNR8" CNRS8 Clustered protocadherins 20 2000-06-28 2023-01-20 56139 ENSG00000250120 OTTHUMG00000163372 uc003lhx.4 AF152475 NM_018901 "CCDS54921|CCDS75325|CCDS34255" Q9Y5I2 10380929 MGI:2447322 RGD:620749 606316 HGNC:8664 "ENST00000307360.6|NM_018901.4" +HGNC:8664 PCDHA10 protocadherin alpha 10 other complex locus constituent Approved 5q31.3 05q31.3 "CNR8|CRNR8|CNRN8|PCDH-ALPHA10" "KIAA0345-like 4|ortholog to mouse CNR8" CNRS8 Clustered protocadherins 20 2000-06-28 2023-01-20 56139 ENSG00000250120 OTTHUMG00000163372 uc003lhx.4 AF152475 NM_018901 "CCDS75325|CCDS34255|CCDS54921" Q9Y5I2 10380929 MGI:2447322 RGD:620749 606316 HGNC:8664 "ENST00000307360.6|NM_018901.4" HGNC:8665 PCDHA11 protocadherin alpha 11 other complex locus constituent Approved 5q31.3 05q31.3 "CNR7|CRNR7|CNRN7|PCDH-ALPHA11" "KIAA0345-like 3|ortholog of mouse CNR7" CNRS7 Clustered protocadherins 20 2000-06-28 2023-01-20 56138 ENSG00000249158 OTTHUMG00000163369 uc003lia.4 AF152476 NM_018902 "CCDS75326|CCDS47284" Q9Y5I1 "10380929|10662547" MGI:1298372 RGD:1594480 606317 HGNC:8665 "ENST00000398640.7|NM_018902.5" -HGNC:8666 PCDHA12 protocadherin alpha 12 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-ALPHA12 KIAA0345-like 2 Clustered protocadherins 20 2000-06-28 2023-01-20 56137 ENSG00000251664 OTTHUMG00000163366 uc003lic.4 AF152477 NM_018903 "CCDS47285|CCDS75327" Q9UN75 10380929 MGI:1298408 RGD:620750 606318 HGNC:8666 "ENST00000398631.3|NM_018903.4" +HGNC:8666 PCDHA12 protocadherin alpha 12 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-ALPHA12 KIAA0345-like 2 Clustered protocadherins 20 2000-06-28 2023-01-20 56137 ENSG00000251664 OTTHUMG00000163366 uc003lic.4 AF152477 NM_018903 "CCDS75327|CCDS47285" Q9UN75 10380929 MGI:1298408 RGD:620750 606318 HGNC:8666 "ENST00000398631.3|NM_018903.4" HGNC:8667 PCDHA13 protocadherin alpha 13 other complex locus constituent Approved 5q31.3 05q31.3 "CNR5|CRNR5|CNRN5|PCDH-ALPHA13" "KIAA0345-like 1|ortholog of mouse CNR5" CNRS5 Clustered protocadherins 20 2000-06-28 2023-03-15 56136 ENSG00000239389 OTTHUMG00000129614 uc003lie.2 AF152478 NM_018904 CCDS4240 Q9Y5I0 "10380929|10662547" MGI:1298370 RGD:620751 606319 HGNC:8667 "ENST00000289272.3|NM_018904.3" HGNC:2163 PCDHA14 protocadherin alpha 14 pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 "CNR3|CRNR3|PCDH-PSI4" CNRS3 protocadherin gamma subfamily A 14 pseudogene Clustered protocadherins 20 1999-11-26 2003-09-24 2012-02-29 26307 ENSG00000249504 OTTHUMG00000163355 AY013875 NG_000016 "10662547|11230163" HGNC:2163 HGNC:8676 PCDHAC1 protocadherin alpha subfamily C, 1 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-ALPHA-C1 Clustered protocadherins 20 2000-06-28 2023-03-15 56135 ENSG00000248383 OTTHUMG00000129603 uc003lih.3 AF152473 NM_018898 CCDS4241 Q9H158 10380929 MGI:1891442 RGD:41150048 606320 HGNC:8676 "ENST00000253807.3|NM_018898.5" @@ -24907,28 +24909,28 @@ HGNC:14549 PCDHB19P protocadherin beta 19 pseudogene pseudogene pseudogene Appro HGNC:8695 PCDHG@ protocadherin gamma cluster protein-coding gene gene with protein product Approved 5q31 05q31 "PCDH2|PCDH4" Clustered protocadherins 20 2000-06-28 2011-03-28 56115 NG_000012 10380929 604968 HGNC:8695 HGNC:8696 PCDHGA1 protocadherin gamma subfamily A, 1 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-A1 Clustered protocadherins 20 2000-06-28 2023-05-11 56114 ENSG00000204956 OTTHUMG00000163678 uc003lji.2 AF152318 NM_018912 CCDS54922 Q9Y5H4 10380929 MGI:1935212 RGD:1590761 606288 HGNC:8696 "ENST00000517417.3|NM_018912.3" HGNC:8700 PCDHGA2 protocadherin gamma subfamily A, 2 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-GAMMA-A2 Clustered protocadherins 20 2000-06-28 2023-05-11 56113 ENSG00000081853 OTTHUMG00000163679 uc003ljk.4 AF152508 NM_018915 CCDS47289 Q9Y5H1 10380929 MGI:1935214 RGD:1587259 606289 470836 HGNC:8700 "ENST00000394576.3|NM_018915.4" -HGNC:8701 PCDHGA3 protocadherin gamma subfamily A, 3 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-GAMMA-A3 Clustered protocadherins 20 2000-06-28 2023-05-11 56112 ENSG00000254245 OTTHUMG00000163680 uc003ljm.3 AF152510 NM_018916 "CCDS47290|CCDS75329" Q9Y5H0 10380929 MGI:1935215 RGD:1598664 606290 HGNC:8701 "ENST00000253812.8|NM_018916.4" -HGNC:8702 PCDHGA4 protocadherin gamma subfamily A, 4 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-A4 Clustered protocadherins 20 2000-06-28 2023-05-11 56111 ENSG00000262576 OTTHUMG00000177593 uc003ljq.4 AF152511 NM_018917 "CCDS58979|CCDS75331" Q9Y5G9 10380929 MGI:1935216 RGD:620725 606291 HGNC:8702 "ENST00000571252.3|NM_018917.4" +HGNC:8701 PCDHGA3 protocadherin gamma subfamily A, 3 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-GAMMA-A3 Clustered protocadherins 20 2000-06-28 2023-05-11 56112 ENSG00000254245 OTTHUMG00000163680 uc003ljm.3 AF152510 NM_018916 "CCDS75329|CCDS47290" Q9Y5H0 10380929 MGI:1935215 RGD:1598664 606290 HGNC:8701 "ENST00000253812.8|NM_018916.4" +HGNC:8702 PCDHGA4 protocadherin gamma subfamily A, 4 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-A4 Clustered protocadherins 20 2000-06-28 2023-05-11 56111 ENSG00000262576 OTTHUMG00000177593 uc003ljq.4 AF152511 NM_018917 "CCDS75331|CCDS58979" Q9Y5G9 10380929 MGI:1935216 RGD:620725 606291 HGNC:8702 "ENST00000571252.3|NM_018917.4" HGNC:8703 PCDHGA5 protocadherin gamma subfamily A, 5 other complex locus constituent Approved 5q31 05q31 "CDH-GAMMA-A5|ME3|PCDH-GAMMA-A5" cadherin ME3 Clustered protocadherins 20 2000-06-28 2023-05-11 56110 ENSG00000253485 OTTHUMG00000163683 uc003lju.3 AF152512 NM_018918 "CCDS75333|CCDS54925" Q9Y5G8 10380929 MGI:1935217 RGD:1311949 606292 HGNC:8703 "ENST00000518069.2|NM_018918.3" -HGNC:8704 PCDHGA6 protocadherin gamma subfamily A, 6 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-A6 Clustered protocadherins 20 2000-06-28 2023-05-11 56109 ENSG00000253731 OTTHUMG00000163684 uc003ljy.3 AF152513 NM_018919 "CCDS75335|CCDS54926" Q9Y5G7 10380929 MGI:1935218 RGD:7625105 606293 HGNC:8704 "ENST00000517434.3|NM_018919.3" +HGNC:8704 PCDHGA6 protocadherin gamma subfamily A, 6 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-A6 Clustered protocadherins 20 2000-06-28 2023-05-11 56109 ENSG00000253731 OTTHUMG00000163684 uc003ljy.3 AF152513 NM_018919 "CCDS54926|CCDS75335" Q9Y5G7 10380929 MGI:1935218 RGD:7625105 606293 HGNC:8704 "ENST00000517434.3|NM_018919.3" HGNC:8705 PCDHGA7 protocadherin gamma subfamily A, 7 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-A7 Clustered protocadherins 20 2000-06-28 2023-05-11 56108 ENSG00000253537 OTTHUMG00000163685 uc003lka.4 AF152514 NM_018920 "CCDS54927|CCDS75336" Q9Y5G6 10380929 MGI:1935219 RGD:1305108 606294 HGNC:8705 "ENST00000518325.2|NM_018920.4" -HGNC:8706 PCDHGA8 protocadherin gamma subfamily A, 8 other complex locus constituent Approved 5q31.3 05q31.3 "KIAA0327|PCDH-GAMMA-A8" Clustered protocadherins 20 2000-06-28 2023-05-11 9708 ENSG00000253767 OTTHUMG00000164053 uc003lkd.3 AF152515 NM_032088 "CCDS47291|CCDS75338" Q9Y5G5 10380929 MGI:1935221 RGD:1310676 606295 HGNC:8706 "ENST00000398604.3|NM_032088.2" +HGNC:8706 PCDHGA8 protocadherin gamma subfamily A, 8 other complex locus constituent Approved 5q31.3 05q31.3 "KIAA0327|PCDH-GAMMA-A8" Clustered protocadherins 20 2000-06-28 2023-05-11 9708 ENSG00000253767 OTTHUMG00000164053 uc003lkd.3 AF152515 NM_032088 "CCDS75338|CCDS47291" Q9Y5G5 10380929 MGI:1935221 RGD:1310676 606295 HGNC:8706 "ENST00000398604.3|NM_032088.2" HGNC:8707 PCDHGA9 protocadherin gamma subfamily A, 9 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-A9 Clustered protocadherins 20 2000-06-28 2023-05-11 56107 ENSG00000261934 OTTHUMG00000177473 uc003lkh.3 AF152516 NM_018921 "CCDS75341|CCDS58981" Q9Y5G4 10380929 MGI:1935226 RGD:620729 606296 HGNC:8707 "ENST00000573521.2|NM_018921.3" HGNC:8697 PCDHGA10 protocadherin gamma subfamily A, 10 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-GAMMA-A10 Clustered protocadherins 20 2000-06-28 2023-05-11 56106 ENSG00000253846 OTTHUMG00000163688 uc003lkl.3 NM_018913 "CCDS47292|CCDS75343" Q9Y5H3 10380929 MGI:1935227 RGD:1308289 606297 HGNC:8697 "ENST00000398610.3|NM_018913.3" -HGNC:8698 PCDHGA11 protocadherin gamma subfamily A, 11 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-GAMMA-A11 Clustered protocadherins 20 2000-06-28 2023-05-11 56105 ENSG00000253873 OTTHUMG00000164055 uc003lkq.3 AF152505 NM_018914 "CCDS47294|CCDS75345|CCDS54930" Q9Y5H2 10380929 MGI:1935228 RGD:621232 606298 HGNC:8698 "ENST00000398587.7|NM_018914.3" +HGNC:8698 PCDHGA11 protocadherin gamma subfamily A, 11 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-GAMMA-A11 Clustered protocadherins 20 2000-06-28 2023-05-11 56105 ENSG00000253873 OTTHUMG00000164055 uc003lkq.3 AF152505 NM_018914 "CCDS47294|CCDS54930|CCDS75345" Q9Y5H2 10380929 MGI:1935228 RGD:621232 606298 HGNC:8698 "ENST00000398587.7|NM_018914.3" HGNC:8699 PCDHGA12 protocadherin gamma subfamily A, 12 other complex locus constituent Approved 5q31.3 05q31.3 "KIAA0588|FIB3|PCDH-GAMMA-A12" fibroblast cadherin FIB3 CDH21 cadherin 21 Clustered protocadherins 20 2000-06-28 2002-05-23 2023-05-11 26025 ENSG00000253159 OTTHUMG00000129611 uc003lkt.3 AF152506 NM_003735 "CCDS75346|CCDS4260" O60330 10380929 MGI:1935229 RGD:1587258 603059 HGNC:8699 "ENST00000252085.4|NM_003735.3" -HGNC:8708 PCDHGB1 protocadherin gamma subfamily B, 1 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-B1 protocadherin gamma subfamily B, 1, isoform 2 Clustered protocadherins 20 2000-06-28 2023-05-11 56104 ENSG00000254221 OTTHUMG00000163681 uc003ljo.3 AF152517 NM_018922 "CCDS75330|CCDS54923" Q9Y5G3 10380929 MGI:1935169 RGD:1560482 606299 HGNC:8708 "ENST00000523390.2|NM_018922.3" -HGNC:8709 PCDHGB2 protocadherin gamma subfamily B, 2 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-B2 Clustered protocadherins 20 2000-06-28 2023-05-11 56103 ENSG00000253910 OTTHUMG00000163682 uc003ljs.3 AF152331 NM_018923 "CCDS75332|CCDS54924" Q9Y5G2 10380929 MGI:1935170 606300 HGNC:8709 "ENST00000522605.2|NM_018923.3" +HGNC:8708 PCDHGB1 protocadherin gamma subfamily B, 1 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-B1 protocadherin gamma subfamily B, 1, isoform 2 Clustered protocadherins 20 2000-06-28 2023-05-11 56104 ENSG00000254221 OTTHUMG00000163681 uc003ljo.3 AF152517 NM_018922 "CCDS54923|CCDS75330" Q9Y5G3 10380929 MGI:1935169 RGD:1560482 606299 HGNC:8708 "ENST00000523390.2|NM_018922.3" +HGNC:8709 PCDHGB2 protocadherin gamma subfamily B, 2 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-B2 Clustered protocadherins 20 2000-06-28 2023-05-11 56103 ENSG00000253910 OTTHUMG00000163682 uc003ljs.3 AF152331 NM_018923 "CCDS54924|CCDS75332" Q9Y5G2 10380929 MGI:1935170 606300 HGNC:8709 "ENST00000522605.2|NM_018923.3" HGNC:8710 PCDHGB3 protocadherin gamma subfamily B, 3 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-B3 Clustered protocadherins 20 2000-06-28 2023-05-11 56102 ENSG00000262209 OTTHUMG00000177471 uc011dat.2 AF152519 NM_018924 "CCDS58980|CCDS75334" Q9Y5G1 10380929 MGI:1935200 RGD:1307432 606301 HGNC:8710 "ENST00000576222.2|NM_018924.5" -HGNC:8711 PCDHGB4 protocadherin gamma subfamily B, 4 other complex locus constituent Approved 5q31 05q31 "FIB2|CDH20|PCDH-GAMMA-B4" "fibroblast cadherin FIB2|cadherin 20" Clustered protocadherins 20 2000-06-28 2023-05-11 8641 ENSG00000253953 OTTHUMG00000163686 uc003lkc.3 AF152520 NM_003736 "CCDS75337|CCDS54928" Q9UN71 10380929 MGI:1935173 RGD:7632725 603058 HGNC:8711 "ENST00000519479.2|NM_003736.4" +HGNC:8711 PCDHGB4 protocadherin gamma subfamily B, 4 other complex locus constituent Approved 5q31 05q31 "FIB2|CDH20|PCDH-GAMMA-B4" "fibroblast cadherin FIB2|cadherin 20" Clustered protocadherins 20 2000-06-28 2023-05-11 8641 ENSG00000253953 OTTHUMG00000163686 uc003lkc.3 AF152520 NM_003736 "CCDS54928|CCDS75337" Q9UN71 10380929 MGI:1935173 RGD:7632725 603058 HGNC:8711 "ENST00000519479.2|NM_003736.4" HGNC:8712 PCDHGB5 protocadherin gamma subfamily B, 5 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-B5 Clustered protocadherins 20 2000-06-28 2023-05-11 56101 ENSG00000276547 OTTHUMG00000188231 uc003lkf.3 AF152521 NM_018925 "CCDS75339|CCDS75340" Q9Y5G0 10380929 MGI:1935196 RGD:1591752 606302 HGNC:8712 "ENST00000617380.2|NM_018925.3" HGNC:8713 PCDHGB6 protocadherin gamma subfamily B, 6 other complex locus constituent Approved 5q31 05q31 PCDH-GAMMA-B6 Clustered protocadherins 20 2000-06-28 2023-05-11 56100 ENSG00000253305 OTTHUMG00000163687 uc003lkj.3 AF152522 NM_018926 "CCDS75342|CCDS54929" Q9Y5F9 10380929 MGI:1935197 RGD:7743693 606303 HGNC:8713 "ENST00000520790.2|NM_018926.3" HGNC:8714 PCDHGB7 protocadherin gamma subfamily B, 7 other complex locus constituent Approved 5q31.3 05q31.3 "ME6|PCDH-GAMMA-B7" cadherin ME6 Clustered protocadherins 20 2000-06-28 2023-05-11 56099 ENSG00000254122 OTTHUMG00000164054 uc003lkn.3 AF152523 NM_018927 "CCDS75344|CCDS47293" Q9Y5F8 10380929 MGI:1935199 RGD:1588516 606304 HGNC:8714 "ENST00000398594.4|NM_018927.4" HGNC:8715 PCDHGB8P protocadherin gamma subfamily B, 8 pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 PCDH-PSI3 Clustered protocadherins 20 2000-06-28 2019-12-17 56120 ENSG00000248449 OTTHUMG00000154974 AF152529 NR_001297 10380929 MGI:1935200 PGOHUM00000257130 HGNC:8715 HGNC:15688 PCDHGB9P protocadherin gamma subfamily B, 9 pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 PSI6 Clustered protocadherins 20 2001-05-14 2017-10-30 84055 ENSG00000276545 OTTHUMG00000188233 AY013877 NG_029268 11230163 PGOHUM00000301146 HGNC:15688 -HGNC:8716 PCDHGC3 protocadherin gamma subfamily C, 3 other complex locus constituent Approved 5q31.3 05q31.3 "PC-43|PC43|PCDH-GAMMA-C3" "cadherin-like 2|protocadherin 2|protocadherin 43" PCDH2 Clustered protocadherins 20 2000-08-22 2023-05-11 5098 ENSG00000240184 OTTHUMG00000129613 uc003lkv.3 AF152337 NM_002588 "CCDS4261|CCDS75347|CCDS75348" Q9UN70 "9360932|8508762" MGI:1935201 RGD:620746 603627 HGNC:8716 "ENST00000308177.5|NM_002588.4" -HGNC:8717 PCDHGC4 protocadherin gamma subfamily C, 4 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-GAMMA-C4 Clustered protocadherins 20 2000-06-28 2023-05-11 56098 ENSG00000242419 OTTHUMG00000129625 uc003lky.3 AF152525 NM_018928 "CCDS93796|CCDS75349|CCDS4262" Q9Y5F7 10380929 MGI:1935203 606305 HGNC:8717 "ENST00000306593.2|NM_018928.3" -HGNC:8718 PCDHGC5 protocadherin gamma subfamily C, 5 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-GAMMA-C5 Clustered protocadherins 20 2000-06-28 2023-05-11 56097 ENSG00000240764 OTTHUMG00000129624 uc003lla.3 AF152526 NM_018929 "CCDS4263|CCDS75350" Q9Y5F6 10380929 MGI:1935205 RGD:2312582 606306 HGNC:8718 "ENST00000252087.3|NM_018929.3" +HGNC:8716 PCDHGC3 protocadherin gamma subfamily C, 3 other complex locus constituent Approved 5q31.3 05q31.3 "PC-43|PC43|PCDH-GAMMA-C3" "cadherin-like 2|protocadherin 2|protocadherin 43" PCDH2 Clustered protocadherins 20 2000-08-22 2023-05-11 5098 ENSG00000240184 OTTHUMG00000129613 uc003lkv.3 AF152337 NM_002588 "CCDS4261|CCDS75348|CCDS75347" Q9UN70 "9360932|8508762" MGI:1935201 RGD:620746 603627 HGNC:8716 "ENST00000308177.5|NM_002588.4" +HGNC:8717 PCDHGC4 protocadherin gamma subfamily C, 4 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-GAMMA-C4 Clustered protocadherins 20 2000-06-28 2023-05-11 56098 ENSG00000242419 OTTHUMG00000129625 uc003lky.3 AF152525 NM_018928 "CCDS4262|CCDS93796|CCDS75349" Q9Y5F7 10380929 MGI:1935203 606305 HGNC:8717 "ENST00000306593.2|NM_018928.3" +HGNC:8718 PCDHGC5 protocadherin gamma subfamily C, 5 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-GAMMA-C5 Clustered protocadherins 20 2000-06-28 2023-05-11 56097 ENSG00000240764 OTTHUMG00000129624 uc003lla.3 AF152526 NM_018929 "CCDS75350|CCDS4263" Q9Y5F6 10380929 MGI:1935205 RGD:2312582 606306 HGNC:8718 "ENST00000252087.3|NM_018929.3" HGNC:8719 PCDHGCT protocadherin gamma constant other complex locus constituent Approved 5q31 05q31 PCDHGC Clustered protocadherins 20 2000-06-28 2023-05-11 56118 10380929 HGNC:16212 PCED1A PC-esterase domain containing 1A protein-coding gene gene with protein product Approved 20p13 20p13 "bA12M19.1|FLJ22376" "C20orf81|FAM113A" "chromosome 20 open reading frame 81|family with sequence similarity 113, member A" 2001-07-17 2012-06-11 2012-06-11 2023-01-20 64773 ENSG00000132635 OTTHUMG00000031716 uc002wgz.3 AK026029 NM_022760 "CCDS59442|CCDS13035" Q9H1Q7 20056006 MGI:2442177 RGD:1308836 HGNC:16212 "ENST00000360652.7|NM_022760.6" HGNC:28255 PCED1B PC-esterase domain containing 1B protein-coding gene gene with protein product Approved 12q13.11 12q13.11 MGC16044 FAM113B family with sequence similarity 113, member B MicroRNA protein coding host genes 1691 2006-02-10 2012-06-11 2012-06-11 2023-01-20 91523 ENSG00000179715 OTTHUMG00000169617 uc021qxi.3 BC016154 NM_138371 CCDS8752 Q96HM7 20056006 MGI:2446270 RGD:1561028 HGNC:28255 "ENST00000546455.6|NM_138371.3" @@ -24942,17 +24944,17 @@ HGNC:12929 PCGF2 polycomb group ring finger 2 protein-coding gene gene with prot HGNC:10066 PCGF3 polycomb group ring finger 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ36550|DONG1|RNF3A|MGC40413" RNF3 ring finger protein 3 "Ring finger proteins|Polycomb group ring fingers" "58|61" 1997-07-01 2005-01-19 2005-01-17 2023-01-20 10336 ENSG00000185619 OTTHUMG00000119000 uc003gbe.4 AK093869 NM_006315 CCDS3339 Q3KNV8 MGI:1916837 RGD:1311479 617543 HGNC:10066 "ENST00000362003.10|NM_006315.7" HGNC:56108 PCGF3-AS1 PCGF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 Antisense RNAs 1987 2022-01-06 2022-01-06 100129917 ENSG00000249592 NR_036511 HGNC:28264 PCGF5 polycomb group ring finger 5 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 MGC16202 RNF159 ring finger protein (C3HC4 type) 159 "Ring finger proteins|Polycomb group ring fingers" "58|61" 2004-04-16 2005-01-19 2005-01-17 2023-01-20 84333 ENSG00000180628 OTTHUMG00000018740 uc001khh.5 AL832003 NM_032373 CCDS7413 Q86SE9 8076819 MGI:1923505 RGD:1583513 617407 HGNC:28264 "ENST00000336126.6|NM_032373.5" -HGNC:21156 PCGF6 polycomb group ring finger 6 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 MBLR RNF134 ring finger protein 134 "Ring finger proteins|Polycomb group ring fingers" "58|61" 2003-05-21 2005-01-19 2005-01-17 2023-01-20 84108 ENSG00000156374 OTTHUMG00000018982 uc001kwt.3 AB047006 NM_032154 "CCDS7546|CCDS31275" Q9BYE7 12167161 MGI:1918291 RGD:1306904 607816 HGNC:21156 "ENST00000369847.4|NM_001011663.2" +HGNC:21156 PCGF6 polycomb group ring finger 6 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 MBLR RNF134 ring finger protein 134 "Ring finger proteins|Polycomb group ring fingers" "58|61" 2003-05-21 2005-01-19 2005-01-17 2023-01-20 84108 ENSG00000156374 OTTHUMG00000018982 uc001kwt.3 AB047006 NM_032154 "CCDS31275|CCDS7546" Q9BYE7 12167161 MGI:1918291 RGD:1306904 607816 HGNC:21156 "ENST00000369847.4|NM_001011663.2" HGNC:30341 PCGF7P polycomb group ring finger 7 pseudogene pseudogene pseudogene Approved 19p12 19p12 RNF134P1 ring finger protein 134 pseudogene 1 "Ring finger proteins|Polycomb group ring fingers" "58|61" 2004-04-22 2005-01-19 2005-01-17 2016-07-25 253272 ENSG00000268140 OTTHUMG00000182931 AC073539 NG_003076 PGOHUM00000295290 HGNC:30341 HGNC:55418 PCHILR prostate cancer associated HIP1 interacting lncRNA non-coding RNA RNA, long non-coding Approved 16q23.1 16q23.1 PCLN16 prostate cancer lncRNA at chromosome 16 Long non-coding RNAs with non-systematic symbols 1992 2023-03-02 2023-03-02 129810500 ENSG00000260884 33387886 -HGNC:25653 PCID2 PCI domain containing 2 protein-coding gene gene with protein product Approved 13q34 13q34 FLJ11305 Transcription and export complex 2 1276 2006-03-31 2023-01-20 55795 ENSG00000126226 OTTHUMG00000017385 uc058yls.1 AK002167 NM_018386 "CCDS58302|CCDS9532|CCDS58301" Q5JVF3 24896180 MGI:2443003 RGD:1307041 613713 HGNC:25653 "ENST00000337344.9|NM_001127202.4" +HGNC:25653 PCID2 PCI domain containing 2 protein-coding gene gene with protein product Approved 13q34 13q34 FLJ11305 Transcription and export complex 2 1276 2006-03-31 2023-01-20 55795 ENSG00000126226 OTTHUMG00000017385 uc058yls.1 AK002167 NM_018386 "CCDS58302|CCDS58301|CCDS9532" Q5JVF3 24896180 MGI:2443003 RGD:1307041 613713 HGNC:25653 "ENST00000337344.9|NM_001127202.4" HGNC:16200 PCIF1 phosphorylated CTD interacting factor 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "bA465L10.1|PPP1R121|CAPAM" "protein phosphatase 1, regulatory subunit 121|cap-specific adenosine methyltransferase'" C20orf67 "chromosome 20 open reading frame 67|PDX1 C-terminal inhibiting factor 1" "Protein phosphatase 1 regulatory subunits|7BS N6-adenosine DNA/RNA methyltransferases" "694|2061" 2001-07-17 2008-04-29 2020-08-25 2023-01-20 63935 ENSG00000100982 OTTHUMG00000032635 uc002xqs.4 AB050014 NM_022104 CCDS13388 Q9H4Z3 12565871 MGI:2443858 RGD:1310800 618626 HGNC:16200 "ENST00000372409.8|NM_022104.4" HGNC:8724 PCK1 phosphoenolpyruvate carboxykinase 1 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 PEPCK-C phosphoenolpyruvate carboxykinase 1 (soluble) 1990-09-10 2015-12-16 2023-01-20 5105 ENSG00000124253 OTTHUMG00000032825 uc002xyn.5 NM_002591 CCDS13460 P35558 1492743 MGI:97501 RGD:3267 614168 124123 4.1.1.32 HGNC:8724 "ENST00000319441.6|NM_002591.4" HGNC:8724 -HGNC:8725 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial protein-coding gene gene with protein product Approved 14q11.2-q12 14q11.2-q12 "PEPCK|PEPCK2" phosphoenolpyruvate carboxykinase 2 (mitochondrial) 1993-03-04 2016-02-26 2023-01-20 5106 ENSG00000100889 OTTHUMG00000028791 uc001wlt.4 AK129934 NM_001018073 "CCDS41928|CCDS9609|CCDS76660" Q16822 "8645161|9657976" MGI:1860456 RGD:1311112 614095 124125 4.1.1.32 HGNC:8725 "ENST00000216780.9|NM_004563.4" HGNC:8725 -HGNC:28961 PCLAF PCNA clamp associated factor protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "NS5ATP9|OEATC-1|p15(PAF)|PAF15" PCNA-associated factor KIAA0101 KIAA0101 2004-06-24 2016-11-11 2016-11-11 2023-01-20 9768 ENSG00000166803 OTTHUMG00000133017 uc002ank.5 D14657 NM_014736 "CCDS10193|CCDS32269" Q15004 "11313979|16288740" MGI:1915276 RGD:1303041 610696 HGNC:28961 "ENST00000300035.9|NM_014736.6" -HGNC:13406 PCLO piccolo presynaptic cytomatrix protein protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "KIAA0559|DKFZp779G1236|ACZ" aczonin piccolo (presynaptic cytomatrix protein) "C2 domain containing|PDZ domain containing|Zinc fingers PCLO-type" "823|1220|2125" 2001-06-25 2013-01-07 2023-01-20 27445 ENSG00000186472 OTTHUMG00000154853 uc003uhx.3 AB011131 NM_014510 "CCDS47630|CCDS47631" Q9Y6V0 "8900486|9628581" MGI:1349390 RGD:69406 604918 431917 HGNC:13406 "ENST00000333891.14|NM_033026.6" HGNC:13406 -HGNC:8727 PCM1 pericentriolar material 1 protein-coding gene gene with protein product Approved 8p22 08p22 PTC4 1994-09-30 2023-01-20 5108 ENSG00000078674 OTTHUMG00000163699 uc003wyi.5 NM_006197 "CCDS47812|CCDS83255|CCDS83256|CCDS87582" Q15154 "8120099|15659651" MGI:1277958 RGD:620901 PCM1 600299 124129 HGNC:8727 "ENST00000325083.13|NM_006197.4" -HGNC:8728 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase protein-coding gene gene with protein product Approved 6q25.1 06q25.1 7BS protein methyltransferases 2058 1992-09-11 2023-03-15 5110 ENSG00000120265 OTTHUMG00000015794 uc003qne.4 NM_001252049 "CCDS59041|CCDS75534|CCDS94017|CCDS75533" P22061 "1478665|10343128" MGI:97502 RGD:3268 176851 470840 2.1.1.77 HGNC:8728 "ENST00000464889.7|NM_001360452.2" +HGNC:8725 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial protein-coding gene gene with protein product Approved 14q11.2-q12 14q11.2-q12 "PEPCK|PEPCK2" phosphoenolpyruvate carboxykinase 2 (mitochondrial) 1993-03-04 2016-02-26 2023-01-20 5106 ENSG00000100889 OTTHUMG00000028791 uc001wlt.4 AK129934 NM_001018073 "CCDS9609|CCDS41928|CCDS76660" Q16822 "8645161|9657976" MGI:1860456 RGD:1311112 614095 124125 4.1.1.32 HGNC:8725 "ENST00000216780.9|NM_004563.4" HGNC:8725 +HGNC:28961 PCLAF PCNA clamp associated factor protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "NS5ATP9|OEATC-1|p15(PAF)|PAF15" PCNA-associated factor KIAA0101 KIAA0101 2004-06-24 2016-11-11 2016-11-11 2023-01-20 9768 ENSG00000166803 OTTHUMG00000133017 uc002ank.5 D14657 NM_014736 "CCDS32269|CCDS10193" Q15004 "11313979|16288740" MGI:1915276 RGD:1303041 610696 HGNC:28961 "ENST00000300035.9|NM_014736.6" +HGNC:13406 PCLO piccolo presynaptic cytomatrix protein protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "KIAA0559|DKFZp779G1236|ACZ" aczonin piccolo (presynaptic cytomatrix protein) "C2 domain containing|PDZ domain containing|Zinc fingers PCLO-type" "823|1220|2125" 2001-06-25 2013-01-07 2023-01-20 27445 ENSG00000186472 OTTHUMG00000154853 uc003uhx.3 AB011131 NM_014510 "CCDS47631|CCDS47630" Q9Y6V0 "8900486|9628581" MGI:1349390 RGD:69406 604918 431917 HGNC:13406 "ENST00000333891.14|NM_033026.6" HGNC:13406 +HGNC:8727 PCM1 pericentriolar material 1 protein-coding gene gene with protein product Approved 8p22 08p22 PTC4 1994-09-30 2023-01-20 5108 ENSG00000078674 OTTHUMG00000163699 uc003wyi.5 NM_006197 "CCDS83256|CCDS83255|CCDS87582|CCDS47812" Q15154 "8120099|15659651" MGI:1277958 RGD:620901 PCM1 600299 124129 HGNC:8727 "ENST00000325083.13|NM_006197.4" +HGNC:8728 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase protein-coding gene gene with protein product Approved 6q25.1 06q25.1 7BS protein methyltransferases 2058 1992-09-11 2023-03-15 5110 ENSG00000120265 OTTHUMG00000015794 uc003qne.4 NM_001252049 "CCDS94017|CCDS59041|CCDS75534|CCDS75533" P22061 "1478665|10343128" MGI:97502 RGD:3268 176851 470840 2.1.1.77 HGNC:8728 "ENST00000464889.7|NM_001360452.2" HGNC:30483 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 FLJ10883 7BS protein methyltransferases 2058 2005-10-06 2023-01-20 115294 ENSG00000168300 OTTHUMG00000164246 uc064msu.1 NM_052937 "CCDS69480|CCDS6148" Q96MG8 MGI:2441773 RGD:1586096 620091 HGNC:30483 "ENST00000522514.6|NM_052937.4" HGNC:55791 PCMTD1-DT PCMTD1 divergent transcript non-coding RNA RNA, long non-coding Approved 8q11.23 08q11.23 Divergent transcripts 1990 2021-07-28 2021-07-28 102724330 ENSG00000228801 HGNC:38804 PCMTD1P1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-08-05 2015-05-18 100874520 ENSG00000226061 OTTHUMG00000041613 NG_032219 PGOHUM00000305636 HGNC:38804 @@ -24977,7 +24979,7 @@ HGNC:41975 PCNPP3 PEST containing nuclear protein pseudogene 3 pseudogene pseudo HGNC:41976 PCNPP4 PEST containing nuclear protein pseudogene 4 pseudogene pseudogene Approved Xq13.3 Xq13.3 2011-05-24 2014-11-18 100874220 ENSG00000237089 OTTHUMG00000021867 NG_032386 PGOHUM00000241402 HGNC:41976 HGNC:41977 PCNPP5 PEST containing nuclear protein pseudogene 5 pseudogene pseudogene Approved 13q14.2 13q14.2 2011-05-24 2014-11-19 100507361 ENSG00000177197 OTTHUMG00000016898 NG_009009 PGOHUM00000248395 HGNC:41977 HGNC:16068 PCNT pericentrin protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KEN|KIAA0402|PCN|PCNTB|SCKL4" "kendrin|Seckel syndrome 4" PCNT2 pericentrin 2 (kendrin) 2001-07-13 2005-11-03 2008-01-30 2023-01-20 5116 ENSG00000160299 OTTHUMG00000090665 uc002zji.4 AB007862 NM_006031 "CCDS93109|CCDS33592" O95613 "8812505|9455477" MGI:102722 RGD:1595865 605925 159181 HGNC:16068 "ENST00000359568.10|NM_006031.6" HGNC:16068 -HGNC:19740 PCNX1 pecanex 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "KIAA0995|KIAA0805|pecanex" "PCNXL1|PCNX" "pecanex-like 1 (Drosophila)|pecanex homolog 1 (Drosophila)" 2002-11-20 2016-01-18 2018-06-21 2023-01-20 22990 ENSG00000100731 OTTHUMG00000171242 uc001xmo.2 "AF233450|AB018348" NM_014982 "CCDS76695|CCDS9806" Q96RV3 "9244429|15777640" MGI:1891924 RGD:1306115 617655 HGNC:19740 "ENST00000304743.7|NM_014982.3" +HGNC:19740 PCNX1 pecanex 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "KIAA0995|KIAA0805|pecanex" "PCNXL1|PCNX" "pecanex-like 1 (Drosophila)|pecanex homolog 1 (Drosophila)" 2002-11-20 2016-01-18 2018-06-21 2023-01-20 22990 ENSG00000100731 OTTHUMG00000171242 uc001xmo.2 "AF233450|AB018348" NM_014982 "CCDS9806|CCDS76695" Q96RV3 "9244429|15777640" MGI:1891924 RGD:1306115 617655 HGNC:19740 "ENST00000304743.7|NM_014982.3" HGNC:8736 PCNX2 pecanex 2 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "KIAA0435|FLJ11383" PCNXL2 "pecanex-like 2 (Drosophila)|pecanex homolog 2 (Drosophila)" 1998-10-12 2016-01-18 2018-06-21 2023-01-20 80003 ENSG00000135749 OTTHUMG00000037824 uc001hvl.3 AK055374 NM_014801 CCDS44335 A6NKB5 12477932 MGI:2445010 RGD:1305883 617656 HGNC:8736 "ENST00000258229.14|NM_014801.4" HGNC:18760 PCNX3 pecanex 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FLJ22427 PCNXL3 "pecanex-like 3 (Drosophila)|pecanex homolog 3 (Drosophila)" MicroRNA protein coding host genes 1691 2002-07-22 2016-01-18 2018-06-21 2023-01-20 399909 ENSG00000197136 OTTHUMG00000166539 uc001oey.3 BX640978 NM_032223 CCDS44650 Q9H6A9 15146197 MGI:1861733 RGD:1305529 617657 HGNC:18760 "ENST00000355703.4|NM_032223.4" HGNC:20349 PCNX4 pecanex 4 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "C14orf135|PCNXL4" "chromosome 14 open reading frame 135|pecanex-like 4 (Drosophila)|pecanex homolog 4 (Drosophila)" 2003-01-28 2016-01-18 2018-06-21 2023-01-20 64430 ENSG00000126773 OTTHUMG00000150361 uc059ccm.1 AK022861 NM_022495 "CCDS32091|CCDS81809" Q63HM2 MGI:1914958 RGD:1582892 HGNC:20349 "ENST00000406854.6|NM_001330177.2" @@ -24993,36 +24995,36 @@ HGNC:20448 PCP4L1 Purkinje cell protein 4 like 1 protein-coding gene gene with p HGNC:54485 PCSEAT prostate cancer expressed EZH2 associated transcript non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 PRCAT38 "prostate cancer-associated transcript 38|PCa specific expression and EZH2-associated transcript" Long non-coding RNAs with non-systematic symbols 1992 2019-09-12 2019-09-12 105372808 ENSG00000286027 NR_164474 "29671889|29803673" HGNC:54485 HGNC:8743 PCSK1 proprotein convertase subtilisin/kexin type 1 protein-coding gene gene with protein product Approved 5q15 05q15 "PC1|PC3|SPC3|PC1/3" "prohormone convertase 3|prohormone convertase 1|proprotein convertase 1/3" NEC1 neuroendocrine convertase 1 Proprotein convertase subtilisin/kexin family 973 1991-06-07 2023-01-20 5122 ENSG00000175426 OTTHUMG00000122089 uc003kls.3 NM_000439 "CCDS54881|CCDS4081" P29120 "1765368|18604207" MGI:97511 RGD:3272 162150 124131 S08.072 objectId:2382 3.4.21.93 HGNC:8743 "ENST00000311106.8|NM_000439.5" HGNC:8743 HGNC:17301 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "SAAS|SgVIII|SCG8|proSAAS|PEN|BigLEN" Granins 925 2001-11-30 2023-01-20 27344 ENSG00000102109 OTTHUMG00000034502 uc004dkz.6 AF181562 NM_013271 CCDS14307 Q9UHG2 10632593 MGI:1353431 RGD:3617 300399 I49.001 HGNC:17301 "ENST00000218230.6|NM_013271.5" -HGNC:8744 PCSK2 proprotein convertase subtilisin/kexin type 2 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "PC2|SPC2" "neuroendocrine convertase 2|KEX2-like endoprotease 2" NEC2 Proprotein convertase subtilisin/kexin family 973 1991-06-07 2023-01-20 5126 ENSG00000125851 OTTHUMG00000031941 uc002wpm.4 AK312341 NM_002594 "CCDS56180|CCDS56179|CCDS13125" P16519 1765368 MGI:97512 RGD:3273 162151 S08.073 objectId:2383 HGNC:8744 "ENST00000262545.7|NM_002594.5" +HGNC:8744 PCSK2 proprotein convertase subtilisin/kexin type 2 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "PC2|SPC2" "neuroendocrine convertase 2|KEX2-like endoprotease 2" NEC2 Proprotein convertase subtilisin/kexin family 973 1991-06-07 2023-01-20 5126 ENSG00000125851 OTTHUMG00000031941 uc002wpm.4 AK312341 NM_002594 "CCDS13125|CCDS56179|CCDS56180" P16519 1765368 MGI:97512 RGD:3273 162151 S08.073 objectId:2383 HGNC:8744 "ENST00000262545.7|NM_002594.5" HGNC:8746 PCSK4 proprotein convertase subtilisin/kexin type 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PC4|SPC5|DKFZp434B217|MGC34749" Proprotein convertase subtilisin/kexin family 973 1993-10-19 2023-01-20 54760 ENSG00000115257 OTTHUMG00000128541 uc002ltb.3 AK057235 NM_017573 CCDS12069 Q6UW60 7782070 MGI:97514 RGD:620325 600487 S08.074 objectId:2384 HGNC:8746 "ENST00000300954.10|NM_017573.5" -HGNC:8747 PCSK5 proprotein convertase subtilisin/kexin type 5 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "PC5|PC6|SPC6" Proprotein convertase subtilisin/kexin family 973 1993-10-19 2023-01-20 5125 ENSG00000099139 OTTHUMG00000020039 uc004ajz.5 NM_001190482 "CCDS55320|CCDS6652|CCDS94423" Q92824 7782070 MGI:97515 RGD:620326 600488 470842 S08.076 objectId:2385 HGNC:8747 "ENST00000674117.1|NM_001372043.1" -HGNC:8569 PCSK6 proprotein convertase subtilisin/kexin type 6 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 SPC4 "subtilisin-like protease|subtilisin-like proprotein convertase 4|subtilisin/kexin-like protease PACE4" PACE4 paired basic amino acid cleaving system 4 Proprotein convertase subtilisin/kexin family 973 1992-06-05 2004-06-16 2004-06-14 2023-01-20 5046 ENSG00000140479 OTTHUMG00000172097 uc032csi.2 NM_002570 "CCDS73791|CCDS73792|CCDS73790|CCDS73789|CCDS73793" P29122 "1741956|8262218" MGI:102897 RGD:3246 LRG_888|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_888.xml 167405 S08.075 objectId:2386 3.4.21.- HGNC:8569 "ENST00000611716.5|NM_002570.5" +HGNC:8747 PCSK5 proprotein convertase subtilisin/kexin type 5 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "PC5|PC6|SPC6" Proprotein convertase subtilisin/kexin family 973 1993-10-19 2023-01-20 5125 ENSG00000099139 OTTHUMG00000020039 uc004ajz.5 NM_001190482 "CCDS94423|CCDS6652|CCDS55320" Q92824 7782070 MGI:97515 RGD:620326 600488 470842 S08.076 objectId:2385 HGNC:8747 "ENST00000674117.1|NM_001372043.1" +HGNC:8569 PCSK6 proprotein convertase subtilisin/kexin type 6 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 SPC4 "subtilisin-like protease|subtilisin-like proprotein convertase 4|subtilisin/kexin-like protease PACE4" PACE4 paired basic amino acid cleaving system 4 Proprotein convertase subtilisin/kexin family 973 1992-06-05 2004-06-16 2004-06-14 2023-01-20 5046 ENSG00000140479 OTTHUMG00000172097 uc032csi.2 NM_002570 "CCDS73792|CCDS73793|CCDS73790|CCDS73791|CCDS73789" P29122 "1741956|8262218" MGI:102897 RGD:3246 LRG_888|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_888.xml 167405 S08.075 objectId:2386 3.4.21.- HGNC:8569 "ENST00000611716.5|NM_002570.5" HGNC:51448 PCSK6-AS1 PCSK6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Antisense RNAs 1987 2014-11-28 2016-11-18 105371027 ENSG00000259764 OTTHUMG00000172093 BG505308 NR_132373 26908617 PCSK6-AS1 HGNC:51448 HGNC:8748 PCSK7 proprotein convertase subtilisin/kexin type 7 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "PC7|PC8|LPC|SPC7" Proprotein convertase subtilisin/kexin family 973 1999-02-24 2023-01-20 9159 ENSG00000160613 OTTHUMG00000165640 uc001pqr.4 U40623 NM_004716 CCDS8382 Q16549 "8615762|9820811" MGI:107421 RGD:3275 604872 S08.077 objectId:2387 HGNC:8748 "ENST00000320934.8|NM_004716.4" HGNC:20001 PCSK9 proprotein convertase subtilisin/kexin type 9 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "NARC-1|FH3" HCHOLA3 hypercholesterolemia, autosomal dominant 3 Proprotein convertase subtilisin/kexin family 973 2003-05-13 2003-05-13 2023-01-20 255738 ENSG00000169174 OTTHUMG00000008136 uc001cyf.3 AX207686 NM_174936 CCDS603 Q8NBP7 "12552133|12730697" MGI:2140260 RGD:728909 "British Heart Foundation|http://www.ucl.ac.uk/ldlr/Current/home.php?select_db=PCSK9|LRG_275|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_275.xml" 607786 124137 S08.039 objectId:2388 HGNC:20001 "ENST00000302118.5|NM_174936.4" HGNC:20001 -HGNC:8752 PCTP phosphatidylcholine transfer protein protein-coding gene gene with protein product Approved 17q22 17q22 STARD2 StAR-related lipid transfer (START) domain containing 2 StAR related lipid transfer domain containing 759 1999-01-11 2023-01-20 58488 ENSG00000141179 OTTHUMG00000177859 uc002iul.5 AK024667 NM_021213 "CCDS11588|CCDS82166|CCDS45741|CCDS82165" Q9UKL6 MGI:107375 RGD:3276 606055 HGNC:8752 "ENST00000268896.10|NM_021213.4" +HGNC:8752 PCTP phosphatidylcholine transfer protein protein-coding gene gene with protein product Approved 17q22 17q22 STARD2 StAR-related lipid transfer (START) domain containing 2 StAR related lipid transfer domain containing 759 1999-01-11 2023-01-20 58488 ENSG00000141179 OTTHUMG00000177859 uc002iul.5 AK024667 NM_021213 "CCDS45741|CCDS82165|CCDS11588|CCDS82166" Q9UKL6 MGI:107375 RGD:3276 606055 HGNC:8752 "ENST00000268896.10|NM_021213.4" HGNC:20588 PCYOX1 prenylcysteine oxidase 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "KIAA0908|PCL1" 2003-09-25 2023-01-20 51449 ENSG00000116005 OTTHUMG00000129671 uc002sgn.5 AB020715 NM_016297 CCDS1902 Q9UHG3 "10585463|12186880" MGI:1914131 RGD:628652 610995 1.8.3.5 HGNC:20588 "ENST00000433351.7|NM_016297.4" HGNC:28477 PCYOX1L prenylcysteine oxidase 1 like protein-coding gene gene with protein product Approved 5q32 05q32 MGC3265 2006-08-08 2023-01-20 78991 ENSG00000145882 OTTHUMG00000130052 uc003lqk.3 NM_024028 CCDS4296 Q8NBM8 12477932 MGI:3606062 RGD:1563290 HGNC:28477 "ENST00000274569.9|NM_024028.4" HGNC:8754 PCYT1A phosphate cytidylyltransferase 1A, choline protein-coding gene gene with protein product Approved 3q29 03q29 "CT|CTPCT|CCTalpha" "phosphate cytidylyltransferase 1, choline, alpha isoform|CTP:phosphocholine cytidylyltransferase-alpha|choline-phosphate cytidylyltransferase alpha|phosphorylcholine transferase alpha" PCYT1 "phosphate cytidylyltransferase 1, choline, alpha isoform|phosphate cytidylyltransferase 1, choline, alpha" 1999-05-05 2021-03-04 2023-01-20 5130 ENSG00000161217 OTTHUMG00000155670 uc003fwf.2 L28957 NM_005017 CCDS3315 P49585 7918629 MGI:88557 RGD:70515 123695 391468 2.7.7.15 HGNC:8754 "ENST00000431016.6|NM_001312673.2" HGNC:8754 -HGNC:8755 PCYT1B phosphate cytidylyltransferase 1B, choline protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "CCT-beta|CTB|CCTbeta" "CTP:phosphocholine cytidylyltransferase-beta|choline-phosphate cytidylyltransferase beta|phosphorylcholine transferase beta" "phosphate cytidylyltransferase 1, choline, beta isoform|phosphate cytidylyltransferase 1, choline, beta" 1999-05-05 2021-03-04 2023-01-20 9468 ENSG00000102230 OTTHUMG00000021270 uc004dbi.4 AF052510 NM_004845 "CCDS55391|CCDS55392|CCDS14213" Q9Y5K3 9593753 MGI:2147987 RGD:708434 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCYT1B 300948 2.7.7.15 HGNC:8755 "ENST00000379144.7|NM_004845.5" +HGNC:8755 PCYT1B phosphate cytidylyltransferase 1B, choline protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "CCT-beta|CTB|CCTbeta" "CTP:phosphocholine cytidylyltransferase-beta|choline-phosphate cytidylyltransferase beta|phosphorylcholine transferase beta" "phosphate cytidylyltransferase 1, choline, beta isoform|phosphate cytidylyltransferase 1, choline, beta" 1999-05-05 2021-03-04 2023-01-20 9468 ENSG00000102230 OTTHUMG00000021270 uc004dbi.4 AF052510 NM_004845 "CCDS14213|CCDS55391|CCDS55392" Q9Y5K3 9593753 MGI:2147987 RGD:708434 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCYT1B 300948 2.7.7.15 HGNC:8755 "ENST00000379144.7|NM_004845.5" HGNC:40431 PCYT1B-AS1 PCYT1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.11 Xp22.11 PCYT1B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100874088 ENSG00000236836 OTTHUMG00000021273 uc033dso.1 NR_046638 PCYT1B-AS1 HGNC:40431 -HGNC:8756 PCYT2 phosphate cytidylyltransferase 2, ethanolamine protein-coding gene gene with protein product Approved 17q25.3 17q25.3 ET "CTP:phosphoethanolamine cytidylyltransferase|phosphorylethanolamine transferase|ethanolamine-phosphate cytidylyltransferase:" 1997-06-09 2023-01-20 5833 ENSG00000185813 OTTHUMG00000177956 uc002kcf.4 D84307 NM_002861 "CCDS54178|CCDS82220|CCDS58610|CCDS62364|CCDS11791" Q99447 9083101 MGI:1915921 RGD:619970 602679 2.7.7.14 HGNC:8756 "ENST00000538936.7|NM_002861.5" HGNC:8756 +HGNC:8756 PCYT2 phosphate cytidylyltransferase 2, ethanolamine protein-coding gene gene with protein product Approved 17q25.3 17q25.3 ET "CTP:phosphoethanolamine cytidylyltransferase|phosphorylethanolamine transferase|ethanolamine-phosphate cytidylyltransferase:" 1997-06-09 2023-01-20 5833 ENSG00000185813 OTTHUMG00000177956 uc002kcf.4 D84307 NM_002861 "CCDS54178|CCDS11791|CCDS62364|CCDS82220|CCDS58610" Q99447 9083101 MGI:1915921 RGD:619970 602679 2.7.7.14 HGNC:8756 "ENST00000538936.7|NM_002861.5" HGNC:8756 HGNC:14634 PDAP1 PDGFA associated protein 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "PAP1|PAP|HASPP28" PDGF associated protein 2001-02-15 2023-01-20 11333 ENSG00000106244 OTTHUMG00000154629 uc003uqe.5 U41745 NM_014891 CCDS5662 Q13442 8780057 MGI:2448536 RGD:620442 607075 HGNC:14634 "ENST00000350498.8|NM_014891.7" -HGNC:8759 PDC phosducin protein-coding gene gene with protein product Approved 1q31.1 01q31.1 MEKA 1990-04-10 2023-01-20 5132 ENSG00000116703 OTTHUMG00000035575 uc001gsa.5 AF076464 NM_022577 "CCDS1370|CCDS41447" P20941 8288249 MGI:98090 RGD:3277 Mutations of the Phosducin Gene|http://www.retina-international.org/files/sci-news/pdcmut.htm 171490 HGNC:8759 "ENST00000391997.3|NM_002597.5" +HGNC:8759 PDC phosducin protein-coding gene gene with protein product Approved 1q31.1 01q31.1 MEKA 1990-04-10 2023-01-20 5132 ENSG00000116703 OTTHUMG00000035575 uc001gsa.5 AF076464 NM_022577 "CCDS41447|CCDS1370" P20941 8288249 MGI:98090 RGD:3277 Mutations of the Phosducin Gene|http://www.retina-international.org/files/sci-news/pdcmut.htm 171490 HGNC:8759 "ENST00000391997.3|NM_002597.5" HGNC:40432 PDC-AS1 PDC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q31.1 01q31.1 Antisense RNAs 1987 2019-09-19 2019-09-19 102724919 ENSG00000229739 OTTHUMG00000035581 NR_126002 HGNC:40432 HGNC:8760 PDCD1 programmed cell death 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "CD279|PD1|hSLE1|PD-1" SLEB2 systemic lupus erythematosus susceptibility 2 "CD molecules|V-set domain containing" "471|590" 1994-05-24 2023-01-20 5133 ENSG00000188389 OTTHUMG00000151342 uc002wcq.5 AY206416 NM_005018 CCDS33428 Q15116 "7851902|12402038" MGI:104879 RGD:1311658 600244 247147 objectId:2760 CD279 HGNC:8760 "ENST00000334409.10|NM_005018.3" HGNC:18731 PDCD1LG2 programmed cell death 1 ligand 2 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "PD-L2|Btdc|PDL2|bA574F11.2|CD273|B7-DC|B7DC" B7 dendritic cell molecule "CD molecules|Receptor ligands|Immunoglobulin like domain containing|B7 family" "471|542|594|1824" 2003-11-14 2023-01-20 80380 ENSG00000197646 OTTHUMG00000019504 uc003zjg.5 AF344424 NM_025239 CCDS6465 Q9BQ51 11224527 MGI:1930125 RGD:1306403 PDCD1LG2 605723 CD273 HGNC:18731 "ENST00000397747.5|NM_025239.4" -HGNC:8762 PDCD2 programmed cell death 2 protein-coding gene gene with protein product Approved 6q27 06q27 "ZMYND7|RP8" Zinc fingers MYND-type 87 1995-01-03 2023-01-20 5134 ENSG00000071994 OTTHUMG00000016083 uc003qxw.4 AJ420535 NM_002598 "CCDS5316|CCDS87471|CCDS56460|CCDS56461|CCDS56462|CCDS75557|CCDS47521" Q16342 7606924 MGI:104643 RGD:61887 600866 HGNC:8762 "ENST00000541970.6|NM_002598.4" +HGNC:8762 PDCD2 programmed cell death 2 protein-coding gene gene with protein product Approved 6q27 06q27 "ZMYND7|RP8" Zinc fingers MYND-type 87 1995-01-03 2023-01-20 5134 ENSG00000071994 OTTHUMG00000016083 uc003qxw.4 AJ420535 NM_002598 "CCDS56462|CCDS87471|CCDS75557|CCDS5316|CCDS47521|CCDS56461|CCDS56460" Q16342 7606924 MGI:104643 RGD:61887 600866 HGNC:8762 "ENST00000541970.6|NM_002598.4" HGNC:28194 PDCD2L programmed cell death 2 like protein-coding gene gene with protein product Approved 19q13.11 19q13.11 MGC13096 2006-03-31 2016-06-22 2023-01-20 84306 ENSG00000126249 OTTHUMG00000182089 uc002nvj.4 BC006146 NM_032346 CCDS12438 Q9BRP1 "16311922|25566315" MGI:1915329 RGD:1589941 615661 HGNC:28194 "ENST00000246535.4|NM_032346.2" HGNC:8763 PDCD4 programmed cell death 4 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 H731 nuclear antigen H731 programmed cell death 4 (neoplastic transformation inhibitor) MicroRNA protein coding host genes 1691 2000-05-10 2016-11-30 2023-01-20 27250 ENSG00000150593 OTTHUMG00000019048 uc001kzh.4 U83908 NM_014456 "CCDS7567|CCDS44478" Q53EL6 9759869 MGI:107490 RGD:620816 608610 HGNC:8763 "ENST00000280154.12|NM_014456.5" HGNC:27425 PDCD4-AS1 PDCD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.2 10q25.2 Antisense RNAs 1987 2013-03-11 2023-01-19 282997 ENSG00000203497 OTTHUMG00000019045 uc057vzb.1 NR_026932 30496290 PDCD4-AS1 HGNC:27425 HGNC:8764 PDCD5 programmed cell death 5 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "TFAR19|MGC9294" "TFAR19 novel apoptosis-related|TF1 cell apoptosis-related gene 19" 1999-12-10 2023-01-20 9141 ENSG00000105185 OTTHUMG00000180224 uc002ntm.4 AF014955 NM_004708 CCDS12423 O14737 9920759 MGI:1913538 RGD:1310561 604583 HGNC:8764 "ENST00000590247.7|NM_004708.4" HGNC:49885 PDCD5P1 programmed cell death 5 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 2014-03-18 2014-03-18 100527946 ENSG00000255909 OTTHUMG00000168907 NG_027977 PGOHUM00000239699 HGNC:49885 HGNC:49886 PDCD5P2 programmed cell death 5 pseudogene 2 pseudogene pseudogene Approved 5q13.3 05q13.3 2014-03-18 2014-03-18 100527947 ENSG00000251107 OTTHUMG00000162398 NG_027978 PGOHUM00000235660 HGNC:49886 -HGNC:8765 PDCD6 programmed cell death 6 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "ALG-2|PEF1B" apoptosis-linked gene-2 EF-hand domain containing 863 1999-12-10 2023-01-20 10016 ENSG00000249915 OTTHUMG00000090283 uc003jat.1 AF035606 NM_013232 "CCDS75222|CCDS58940|CCDS3854|CCDS58941|CCDS75223" O75340 8560270 MGI:109283 RGD:1311239 601057 HGNC:8765 "ENST00000264933.9|NM_013232.4" +HGNC:8765 PDCD6 programmed cell death 6 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "ALG-2|PEF1B" apoptosis-linked gene-2 EF-hand domain containing 863 1999-12-10 2023-01-20 10016 ENSG00000249915 OTTHUMG00000090283 uc003jat.1 AF035606 NM_013232 "CCDS58941|CCDS3854|CCDS58940|CCDS75223|CCDS75222" O75340 8560270 MGI:109283 RGD:1311239 601057 HGNC:8765 "ENST00000264933.9|NM_013232.4" HGNC:54724 PDCD6-AHRR PDCD6-AHRR readthrough (NMD candidate) other readthrough Approved 5p15.33 05p15.33 2019-12-20 2021-08-17 116412618 ENSG00000288622 NR_165159 HGNC:55580 PDCD6-DT PDCD6 divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 HRAT5 heart tissue-associated transcript 5 Divergent transcripts 1990 2021-04-23 2021-04-23 102467073 ENSG00000248925 NR_104613 -HGNC:8766 PDCD6IP programmed cell death 6 interacting protein protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "Alix|AIP1|Hp95" ALG-2 interacting protein X programmed cell death 6-interacting protein 1999-12-10 2001-11-29 2023-01-20 10015 ENSG00000170248 OTTHUMG00000130751 uc003cfx.5 BC020066 NM_001162429 "CCDS2660|CCDS54561" Q8WUM4 9880530 MGI:1333753 RGD:68357 608074 HGNC:8766 "ENST00000307296.8|NM_013374.6" +HGNC:8766 PDCD6IP programmed cell death 6 interacting protein protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "Alix|AIP1|Hp95" ALG-2 interacting protein X programmed cell death 6-interacting protein 1999-12-10 2001-11-29 2023-01-20 10015 ENSG00000170248 OTTHUMG00000130751 uc003cfx.5 BC020066 NM_001162429 "CCDS54561|CCDS2660" Q8WUM4 9880530 MGI:1333753 RGD:68357 608074 HGNC:8766 "ENST00000307296.8|NM_013374.6" HGNC:55244 PDCD6IP-DT PDCD6IP divergent transcript non-coding RNA RNA, long non-coding Approved 3p22.3 03p22.3 Divergent transcripts 1990 2020-09-17 2020-09-17 105377023 ENSG00000271643 NR_183730 HGNC:49872 PDCD6IPP1 PDCD6IP pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 2014-03-18 2015-01-29 100861430 ENSG00000275325 OTTHUMG00000188375 NG_031996 PGOHUM00000293129 HGNC:49872 HGNC:49873 PDCD6IPP2 PDCD6IP pseudogene 2 pseudogene pseudogene Approved 15q13.1 15q13.1 2014-03-18 2014-03-18 646278 ENSG00000261377 OTTHUMG00000176344 NR_037599 PGOHUM00000258930 HGNC:49873 @@ -25044,19 +25046,19 @@ HGNC:44507 PDCL3P6 PDCL3 pseudogene 6 pseudogene pseudogene Approved 1p32.3 01p3 HGNC:44508 PDCL3P7 PDCL3 pseudogene 7 pseudogene pseudogene Approved 12q14.3 12q14.3 phosducin-like 3 pseudogene 7 2012-11-13 2019-02-18 2019-02-18 390340 ENSG00000256777 OTTHUMG00000169005 PGOHUM00000239502 HGNC:44508 HGNC:8774 PDE1A phosphodiesterase 1A protein-coding gene gene with protein product Approved 2q32.1 02q32.1 phosphodiesterase 1A, calmodulin-dependent Phosphodiesterases 681 1997-02-05 2015-11-18 2023-01-20 5136 ENSG00000115252 OTTHUMG00000132596 uc002uoq.3 NM_001003683 P54750 "8557689|11342109" MGI:1201792 RGD:68329 171890 objectId:1294 3.1.4.17 HGNC:8774 "ENST00000409365.6|NM_001363871.4" HGNC:8775 PDE1B phosphodiesterase 1B protein-coding gene gene with protein product Approved 12q13.2 12q13.2 PDES1B phosphodiesterase 1B, calmodulin-dependent Phosphodiesterases 681 1990-01-02 2015-11-18 2023-01-20 5153 ENSG00000123360 OTTHUMG00000169844 uc001sgd.3 U56976 NM_000924 "CCDS53800|CCDS8882|CCDS73477" Q01064 "8855339|9419816" MGI:97523 RGD:3278 171891 objectId:1295 3.1.4.17 HGNC:8775 "ENST00000243052.8|NM_000924.4" -HGNC:8776 PDE1C phosphodiesterase 1C protein-coding gene gene with protein product Approved 7p14.3 07p14.3 Hcam3 "phosphodiesterase 1C, calmodulin-dependent (70kD)|phosphodiesterase 1C, calmodulin-dependent 70kDa" Phosphodiesterases 681 1994-07-29 2015-11-16 2023-01-20 5137 ENSG00000154678 OTTHUMG00000023836 uc003tcp.2 U40371 NM_001191056 "CCDS55100|CCDS5437|CCDS55099" Q14123 8557689 MGI:108413 RGD:68332 602987 objectId:1296 3.1.4.17 HGNC:8776 "ENST00000396191.6|NM_001191057.4" HGNC:8776 -HGNC:8777 PDE2A phosphodiesterase 2A protein-coding gene gene with protein product Approved 11q13.4 11q13.4 phosphodiesterase 2A, cGMP-stimulated "Phosphodiesterases|MicroRNA protein coding host genes" "681|1691" 1997-11-10 2015-11-18 2023-01-20 5138 ENSG00000186642 OTTHUMG00000102045 uc010rrc.3 U67733 NM_002599 "CCDS53678|CCDS8216|CCDS73345|CCDS44670" O00408 9210593 MGI:2446107 RGD:620965 602658 objectId:1297 3.1.4.17 HGNC:8777 "ENST00000334456.10|NM_002599.5" HGNC:8777 +HGNC:8776 PDE1C phosphodiesterase 1C protein-coding gene gene with protein product Approved 7p14.3 07p14.3 Hcam3 "phosphodiesterase 1C, calmodulin-dependent (70kD)|phosphodiesterase 1C, calmodulin-dependent 70kDa" Phosphodiesterases 681 1994-07-29 2015-11-16 2023-01-20 5137 ENSG00000154678 OTTHUMG00000023836 uc003tcp.2 U40371 NM_001191056 "CCDS5437|CCDS55100|CCDS55099" Q14123 8557689 MGI:108413 RGD:68332 602987 objectId:1296 3.1.4.17 HGNC:8776 "ENST00000396191.6|NM_001191057.4" HGNC:8776 +HGNC:8777 PDE2A phosphodiesterase 2A protein-coding gene gene with protein product Approved 11q13.4 11q13.4 phosphodiesterase 2A, cGMP-stimulated "Phosphodiesterases|MicroRNA protein coding host genes" "681|1691" 1997-11-10 2015-11-18 2023-01-20 5138 ENSG00000186642 OTTHUMG00000102045 uc010rrc.3 U67733 NM_002599 "CCDS73345|CCDS53678|CCDS44670|CCDS8216" O00408 9210593 MGI:2446107 RGD:620965 602658 objectId:1297 3.1.4.17 HGNC:8777 "ENST00000334456.10|NM_002599.5" HGNC:8777 HGNC:40435 PDE2A-AS1 PDE2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2019-09-19 2019-09-19 105369379 ENSG00000255808 OTTHUMG00000167929 XR_001748293 HGNC:40435 HGNC:40434 PDE2A-AS2 PDE2A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2019-09-19 2019-09-19 105369378 ENSG00000256633 OTTHUMG00000167928 XR_001748291 HGNC:40434 HGNC:8778 PDE3A phosphodiesterase 3A protein-coding gene gene with protein product Approved 12p12.2 12p12.2 CGI-PDE cGMP-inhibited 3',5'-cyclic phosphodiesterase A phosphodiesterase 3A, cGMP-inhibited Phosphodiesterases 681 1994-07-29 2015-11-18 2023-01-20 5139 ENSG00000172572 OTTHUMG00000168962 uc001reh.3 NM_000921 CCDS31754 Q14432 "1315035|10679291" MGI:1860764 RGD:61942 123805 431999 objectId:1298 3.1.4.17 HGNC:8778 "ENST00000359062.4|NM_000921.5" HGNC:8778 -HGNC:40436 PDE3A-AS1 PDE3A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.2 12p12.2 Antisense RNAs 1987 2021-03-11 2021-03-11 120766147 ENSG00000256879 OTTHUMG00000168961 -HGNC:8779 PDE3B phosphodiesterase 3B protein-coding gene gene with protein product Approved 11p15.2 11p15.2 HcGIP1 phosphodiesterase 3B, cGMP-inhibited Phosphodiesterases 681 1995-10-02 2015-11-18 2023-01-20 5140 ENSG00000152270 OTTHUMG00000165898 uc001mln.4 U38178 NM_000922 "CCDS7817|CCDS91445" Q13370 "8884271|16395595" MGI:1333863 RGD:61943 602047 objectId:1299 3.1.4.17 HGNC:8779 "ENST00000282096.9|NM_000922.4" -HGNC:8780 PDE4A phosphodiesterase 4A protein-coding gene gene with protein product Approved 19p13.2 19p13.2 phosphodiesterase E2 dunce homolog (Drosophila) DPDE2 "phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)|phosphodiesterase 4A, cAMP-specific" Phosphodiesterases 681 1994-07-29 2015-11-18 2023-01-20 5141 ENSG00000065989 OTTHUMG00000180411 uc002mom.3 NM_001111307 "CCDS45963|CCDS45961|CCDS58649|CCDS12238|CCDS45962" P27815 8009369 MGI:99558 RGD:3279 600126 objectId:1300 3.1.4.17 HGNC:8780 "ENST00000380702.7|NM_001111307.2" -HGNC:8781 PDE4B phosphodiesterase 4B protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "phosphodiesterase E4 dunce homolog (Drosophila)|cAMP-specific 3',5'-cyclic phosphodiesterase 4B" DPDE4 "phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)|phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)|phosphodiesterase 4B, cAMP-specific" Phosphodiesterases 681 1994-07-29 2015-11-18 2023-01-20 5142 ENSG00000184588 OTTHUMG00000009088 uc001dcp.4 L20971 NM_002600 "CCDS30743|CCDS72802|CCDS632|CCDS30742" Q07343 MGI:99557 RGD:3280 600127 objectId:1301 HGNC:8781 "ENST00000341517.9|NM_002600.4" +HGNC:40436 PDE3A-AS1 PDE3A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.2 12p12.2 Antisense RNAs 1987 2021-03-11 2021-03-11 120766147 ENSG00000256879 OTTHUMG00000168961 NR_186033 +HGNC:8779 PDE3B phosphodiesterase 3B protein-coding gene gene with protein product Approved 11p15.2 11p15.2 HcGIP1 phosphodiesterase 3B, cGMP-inhibited Phosphodiesterases 681 1995-10-02 2015-11-18 2023-01-20 5140 ENSG00000152270 OTTHUMG00000165898 uc001mln.4 U38178 NM_000922 "CCDS91445|CCDS7817" Q13370 "8884271|16395595" MGI:1333863 RGD:61943 602047 objectId:1299 3.1.4.17 HGNC:8779 "ENST00000282096.9|NM_000922.4" +HGNC:8780 PDE4A phosphodiesterase 4A protein-coding gene gene with protein product Approved 19p13.2 19p13.2 phosphodiesterase E2 dunce homolog (Drosophila) DPDE2 "phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)|phosphodiesterase 4A, cAMP-specific" Phosphodiesterases 681 1994-07-29 2015-11-18 2023-01-20 5141 ENSG00000065989 OTTHUMG00000180411 uc002mom.3 NM_001111307 "CCDS58649|CCDS45963|CCDS45962|CCDS12238|CCDS45961" P27815 8009369 MGI:99558 RGD:3279 600126 objectId:1300 3.1.4.17 HGNC:8780 "ENST00000380702.7|NM_001111307.2" +HGNC:8781 PDE4B phosphodiesterase 4B protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "phosphodiesterase E4 dunce homolog (Drosophila)|cAMP-specific 3',5'-cyclic phosphodiesterase 4B" DPDE4 "phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)|phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)|phosphodiesterase 4B, cAMP-specific" Phosphodiesterases 681 1994-07-29 2015-11-18 2023-01-20 5142 ENSG00000184588 OTTHUMG00000009088 uc001dcp.4 L20971 NM_002600 "CCDS72802|CCDS632|CCDS30743|CCDS30742" Q07343 MGI:99557 RGD:3280 600127 objectId:1301 HGNC:8781 "ENST00000341517.9|NM_002600.4" HGNC:40437 PDE4B-AS1 PDE4B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Antisense RNAs 1987 2019-09-19 2019-09-19 101927139 ENSG00000227466 OTTHUMG00000009087 NR_123718 HGNC:40437 -HGNC:8782 PDE4C phosphodiesterase 4C protein-coding gene gene with protein product Approved 19p13.11 19p13.11 phosphodiesterase E1 dunce homolog (Drosophila) DPDE1 "phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)|phosphodiesterase 4C, cAMP-specific" Phosphodiesterases 681 1992-06-08 2015-11-18 2023-01-20 5143 ENSG00000105650 OTTHUMG00000183353 uc002nil.4 NM_000923 "CCDS42523|CCDS92567|CCDS12373|CCDS46016" Q08493 MGI:99556 RGD:727918 600128 objectId:1302 3.1.4.17 HGNC:8782 "ENST00000262805.17|NM_001098818.4" -HGNC:8783 PDE4D phosphodiesterase 4D protein-coding gene gene with protein product Approved 5q11.2-q12.1 05q11.2-q12.1 "phosphodiesterase E3 dunce homolog (Drosophila)|cAMP-specific 3',5'-cyclic phosphodiesterase 4D" DPDE3 "phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)|phosphodiesterase 4D, cAMP-specific" "Phosphodiesterases|MicroRNA protein coding host genes" "681|1691" 1992-06-08 2015-11-18 2023-01-20 5144 ENSG00000113448 OTTHUMG00000162218 uc003jrz.5 NM_001104631 "CCDS56371|CCDS54858|CCDS56369|CCDS56372|CCDS93714|CCDS54859|CCDS56370|CCDS87297|CCDS56373|CCDS47213" Q08499 MGI:99555 RGD:3281 600129 299630 objectId:1303 3.1.4.17 HGNC:8783 "ENST00000340635.11|NM_001104631.2" HGNC:8783 -HGNC:15580 PDE4DIP phosphodiesterase 4D interacting protein protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "KIAA0477|KIAA0454|MMGL" myomegalin CMYA2 cardiomyopathy associated 2 2001-06-27 2008-07-31 2023-03-15 9659 ENSG00000178104 OTTHUMG00000013846 uc031uvq.2 "AB007923|AB007946" NM_014644 "CCDS72893|CCDS72888|CCDS72890|CCDS91046|CCDS91045|CCDS91043|CCDS91044|CCDS91040|CCDS91042|CCDS91041|CCDS72891|CCDS72892|CCDS72887|CCDS72894" Q5VU43 "9455484|11134006" MGI:1891434 RGD:708410 PDE4DIP 608117 HGNC:15580 "ENST00000695795.1|NM_001395426.1" +HGNC:8782 PDE4C phosphodiesterase 4C protein-coding gene gene with protein product Approved 19p13.11 19p13.11 phosphodiesterase E1 dunce homolog (Drosophila) DPDE1 "phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)|phosphodiesterase 4C, cAMP-specific" Phosphodiesterases 681 1992-06-08 2015-11-18 2023-01-20 5143 ENSG00000105650 OTTHUMG00000183353 uc002nil.4 NM_000923 "CCDS92567|CCDS42523|CCDS46016|CCDS12373" Q08493 MGI:99556 RGD:727918 600128 objectId:1302 3.1.4.17 HGNC:8782 "ENST00000262805.17|NM_001098818.4" +HGNC:8783 PDE4D phosphodiesterase 4D protein-coding gene gene with protein product Approved 5q11.2-q12.1 05q11.2-q12.1 "phosphodiesterase E3 dunce homolog (Drosophila)|cAMP-specific 3',5'-cyclic phosphodiesterase 4D" DPDE3 "phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)|phosphodiesterase 4D, cAMP-specific" "Phosphodiesterases|MicroRNA protein coding host genes" "681|1691" 1992-06-08 2015-11-18 2023-01-20 5144 ENSG00000113448 OTTHUMG00000162218 uc003jrz.5 NM_001104631 "CCDS56371|CCDS54859|CCDS47213|CCDS56372|CCDS93714|CCDS87297|CCDS54858|CCDS56370|CCDS56369|CCDS56373" Q08499 MGI:99555 RGD:3281 600129 299630 objectId:1303 3.1.4.17 HGNC:8783 "ENST00000340635.11|NM_001104631.2" HGNC:8783 +HGNC:15580 PDE4DIP phosphodiesterase 4D interacting protein protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "KIAA0477|KIAA0454|MMGL" myomegalin CMYA2 cardiomyopathy associated 2 2001-06-27 2008-07-31 2023-03-15 9659 ENSG00000178104 OTTHUMG00000013846 uc031uvq.2 "AB007923|AB007946" NM_014644 "CCDS91046|CCDS72894|CCDS91041|CCDS91040|CCDS72892|CCDS72890|CCDS91042|CCDS91044|CCDS91045|CCDS91043|CCDS72891|CCDS72887|CCDS72888|CCDS72893" Q5VU43 "9455484|11134006" MGI:1891434 RGD:708410 PDE4DIP 608117 HGNC:15580 "ENST00000695795.1|NM_001395426.1" HGNC:50867 PDE4DIPP1 PDE4DIP pseudogene 1 pseudogene pseudogene Approved 1q21.2 01q21.2 phosphodiesterase 4D interacting protein pseudogene 1 2014-07-16 2015-02-04 2020-06-17 2020-06-17 728920 ENSG00000229828 OTTHUMG00000013879 NR_146087 PGOHUM00000296552 HGNC:50867 HGNC:55081 PDE4DIPP2 PDE4DIP pseudogene 2 pseudogene pseudogene Approved 1p11.2 01p11.2 2020-06-17 2020-06-17 100996724 ENSG00000275131 NR_144516 HGNC:55082 PDE4DIPP3 PDE4DIP pseudogene 3 pseudogene pseudogene Approved 1q21.1 01q21.1 2020-06-17 2020-06-17 199882 ENSG00000233430 XR_001737706 @@ -25068,55 +25070,55 @@ HGNC:55099 PDE4DIPP8 PDE4DIP pseudogene 8 pseudogene pseudogene Approved 1p36.13 HGNC:55100 PDE4DIPP9 PDE4DIP pseudogene 9 pseudogene pseudogene Approved 1p36.13 01p36.13 2020-06-19 2020-06-19 100421279 ENSG00000230239 NG_027068 PGOHUM00000296233 HGNC:55101 PDE4DIPP10 PDE4DIP pseudogene 10 pseudogene pseudogene Approved 1p36.12 01p36.12 2020-06-19 2020-06-19 100421269 ENSG00000228823 NG_026917 PGOHUM00000295583 HGNC:8784 PDE5A phosphodiesterase 5A protein-coding gene gene with protein product Approved 4q26 04q26 phosphodiesterase 5A, cGMP-specific Phosphodiesterases 681 1998-11-24 2015-11-18 2023-03-15 8654 ENSG00000138735 OTTHUMG00000132971 uc003idh.4 D89094 NM_001083 "CCDS34055|CCDS3713" O76074 "9714779|9642111" MGI:2651499 RGD:620995 603310 objectId:1304 3.1.4.17 HGNC:8784 "ENST00000354960.8|NM_001083.4" -HGNC:8785 PDE6A phosphodiesterase 6A protein-coding gene gene with protein product Approved 5q32 05q32 RP43 "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha|retinitis pigmentosa type 43" PDEA phosphodiesterase 6A, cGMP-specific, rod, alpha Phosphodiesterases 681 1990-03-20 2015-11-18 2023-01-20 5145 ENSG00000132915 OTTHUMG00000130047 uc003lrg.4 NM_000440 "CCDS4299|CCDS93802" P16499 2155175 MGI:97524 RGD:1306835 Mutations of the Phosphodiesterase type 6|http://www.retina-international.org/files/sci-news/pdemut.htm 180071 124146 objectId:1312 3.1.4.17 HGNC:8785 "ENST00000255266.10|NM_000440.3" HGNC:8785 -HGNC:8786 PDE6B phosphodiesterase 6B protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "CSNB3|rd1|RP40|CSNBAD2" "congenital stationary night blindness 3, autosomal dominant|rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta" PDEB phosphodiesterase 6B, cGMP-specific, rod, beta Phosphodiesterases 681 1991-01-15 2015-11-18 2023-01-20 5158 ENSG00000133256 OTTHUMG00000159909 uc003gap.4 BC000249 NM_000283 "CCDS33932|CCDS46993|CCDS54703" P35913 1313787 MGI:97525 RGD:1311039 180072 124149 objectId:1313 3.1.4.17 HGNC:8786 "ENST00000496514.6|NM_000283.4" HGNC:8786 +HGNC:8785 PDE6A phosphodiesterase 6A protein-coding gene gene with protein product Approved 5q32 05q32 RP43 "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha|retinitis pigmentosa type 43" PDEA phosphodiesterase 6A, cGMP-specific, rod, alpha Phosphodiesterases 681 1990-03-20 2015-11-18 2023-01-20 5145 ENSG00000132915 OTTHUMG00000130047 uc003lrg.4 NM_000440 "CCDS93802|CCDS4299" P16499 2155175 MGI:97524 RGD:1306835 Mutations of the Phosphodiesterase type 6|http://www.retina-international.org/files/sci-news/pdemut.htm 180071 124146 objectId:1312 3.1.4.17 HGNC:8785 "ENST00000255266.10|NM_000440.3" HGNC:8785 +HGNC:8786 PDE6B phosphodiesterase 6B protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "CSNB3|rd1|RP40|CSNBAD2" "congenital stationary night blindness 3, autosomal dominant|rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta" PDEB phosphodiesterase 6B, cGMP-specific, rod, beta Phosphodiesterases 681 1991-01-15 2015-11-18 2023-01-20 5158 ENSG00000133256 OTTHUMG00000159909 uc003gap.4 BC000249 NM_000283 "CCDS33932|CCDS54703|CCDS46993" P35913 1313787 MGI:97525 RGD:1311039 180072 124149 objectId:1313 3.1.4.17 HGNC:8786 "ENST00000496514.6|NM_000283.4" HGNC:8786 HGNC:40438 PDE6B-AS1 PDE6B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 Antisense RNAs 1987 2019-09-19 2019-09-19 101928521 ENSG00000242686 OTTHUMG00000159908 NR_183810 HGNC:40438 HGNC:8787 PDE6C phosphodiesterase 6C protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "PDEA2|ACHM5|COD4" Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha phosphodiesterase 6C, cGMP-specific, cone, alpha prime Phosphodiesterases 681 1995-07-13 2015-11-18 2023-01-20 5146 ENSG00000095464 OTTHUMG00000018775 uc001kiu.5 U31973 NM_006204 CCDS7429 P51160 MGI:105956 RGD:1309844 600827 208333 objectId:1314 3.1.4.17 HGNC:8787 "ENST00000371447.4|NM_006204.4" HGNC:8787 HGNC:8788 PDE6D phosphodiesterase 6D protein-coding gene gene with protein product Approved 2q37.1 02q37.1 JBTS22 retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta phosphodiesterase 6D, cGMP-specific, rod, delta Phosphodiesterases 681 1997-11-03 2015-11-18 2023-01-20 5147 ENSG00000156973 OTTHUMG00000153785 uc002vse.2 AF045999 NM_001291018 "CCDS33398|CCDS77538" O43924 "9533031|9570951" MGI:1270843 RGD:1306204 602676 391804 objectId:1315 3.1.4.17 HGNC:8788 "ENST00000287600.9|NM_002601.4" HGNC:8788 HGNC:8789 PDE6G phosphodiesterase 6G protein-coding gene gene with protein product Approved 17q25.3 17q25.3 RP57 PDEG phosphodiesterase 6G, cGMP-specific, rod, gamma Phosphodiesterases 681 1990-04-10 2015-11-18 2023-01-20 5148 ENSG00000185527 OTTHUMG00000178038 uc060llj.1 NM_001365724 CCDS11783 P18545 2155175 MGI:97526 RGD:1591130 180073 238998 objectId:1316 3.1.4.17 HGNC:8789 "ENST00000331056.10|NM_002602.4" HGNC:8789 HGNC:8790 PDE6H phosphodiesterase 6H protein-coding gene gene with protein product Approved 12p12.3 12p12.3 retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma phosphodiesterase 6H, cGMP-specific, cone, gamma Phosphodiesterases 681 1995-07-13 2015-11-18 2023-01-20 5149 ENSG00000139053 OTTHUMG00000168743 uc001rcr.5 NM_006205 CCDS8672 Q13956 8786098 MGI:1925850 RGD:70933 601190 160320 objectId:1317 3.1.4.17 HGNC:8790 "ENST00000266395.3|NM_006205.3" HGNC:8790 -HGNC:8791 PDE7A phosphodiesterase 7A protein-coding gene gene with protein product Approved 8q13.1 08q13.1 HCP1 high affinity cAMP-specific PDE 1 Phosphodiesterases 681 1994-07-21 2023-03-15 5150 ENSG00000205268 OTTHUMG00000164469 uc003xvp.4 L12052 NM_001242318 "CCDS56538|CCDS34901" Q13946 "8389765|9521885" MGI:1202402 RGD:68391 171885 objectId:1305 3.1.4.17 HGNC:8791 "ENST00000401827.8|NM_001242318.3" +HGNC:8791 PDE7A phosphodiesterase 7A protein-coding gene gene with protein product Approved 8q13.1 08q13.1 HCP1 high affinity cAMP-specific PDE 1 Phosphodiesterases 681 1994-07-21 2023-03-15 5150 ENSG00000205268 OTTHUMG00000164469 uc003xvp.4 L12052 NM_001242318 "CCDS34901|CCDS56538" Q13946 "8389765|9521885" MGI:1202402 RGD:68391 171885 objectId:1305 3.1.4.17 HGNC:8791 "ENST00000401827.8|NM_001242318.3" HGNC:55223 PDE7A-DT PDE7A divergent transcript non-coding RNA RNA, long non-coding Approved 8q13.1 08q13.1 Divergent transcripts 1990 2020-09-11 2020-09-11 118568829 ENSG00000272192 HGNC:8792 PDE7B phosphodiesterase 7B protein-coding gene gene with protein product Approved 6q23.3 06q23.3 Phosphodiesterases 681 2000-01-07 2023-01-20 27115 ENSG00000171408 OTTHUMG00000015641 uc003qgp.4 AB038040 NM_018945 CCDS5175 Q9NP56 10618442 MGI:1352752 RGD:621016 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=PDE7B 604645 objectId:1306 3.1.4.17 HGNC:8792 "ENST00000308191.11|NM_018945.4" HGNC:56334 PDE7B-AS1 PDE7B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 Antisense RNAs 1987 2022-09-16 2022-09-16 644135 ENSG00000237596 NR_149042 35713000 -HGNC:8793 PDE8A phosphodiesterase 8A protein-coding gene gene with protein product Approved 15q25.3 15q25.3 HsT19550 "Phosphodiesterases|PAS domain containing" "681|2127" 1998-06-12 2023-03-15 5151 ENSG00000073417 OTTHUMG00000148670 uc002blh.4 AF056490 NM_002605 "CCDS58397|CCDS10337|CCDS10336" O60658 9618252 MGI:1277116 RGD:735125 602972 objectId:1307 3.1.4.17 HGNC:8793 "ENST00000394553.6|NM_002605.3" -HGNC:8794 PDE8B phosphodiesterase 8B protein-coding gene gene with protein product Approved 5q13.3 05q13.3 High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B "Phosphodiesterases|PAS domain containing" "681|2127" 1998-11-30 2023-01-20 8622 ENSG00000113231 OTTHUMG00000102170 uc003kfa.4 AF079529 NM_003719 "CCDS34190|CCDS34192|CCDS34193|CCDS87307|CCDS4037|CCDS34191" O95263 9784418 MGI:2443999 RGD:735041 603390 226016 objectId:1308 3.1.4.17 HGNC:8794 "ENST00000264917.10|NM_003719.5" HGNC:8794 -HGNC:8795 PDE9A phosphodiesterase 9A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 Phosphodiesterases 681 1998-06-12 2023-01-20 5152 ENSG00000160191 OTTHUMG00000086825 uc002zbx.4 AF048837 NM_001001567 "CCDS33568|CCDS42942|CCDS42947|CCDS42941|CCDS42945|CCDS33570|CCDS33571|CCDS42946|CCDS13690|CCDS33567|CCDS33569|CCDS42944|CCDS42943" O76083 9624146 MGI:1277179 RGD:621035 602973 objectId:1309 3.1.4.17 HGNC:8795 "ENST00000291539.11|NM_002606.3" +HGNC:8793 PDE8A phosphodiesterase 8A protein-coding gene gene with protein product Approved 15q25.3 15q25.3 HsT19550 "Phosphodiesterases|PAS domain containing" "681|2127" 1998-06-12 2023-03-15 5151 ENSG00000073417 OTTHUMG00000148670 uc002blh.4 AF056490 NM_002605 "CCDS10336|CCDS10337|CCDS58397" O60658 9618252 MGI:1277116 RGD:735125 602972 objectId:1307 3.1.4.17 HGNC:8793 "ENST00000394553.6|NM_002605.3" +HGNC:8794 PDE8B phosphodiesterase 8B protein-coding gene gene with protein product Approved 5q13.3 05q13.3 High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B "Phosphodiesterases|PAS domain containing" "681|2127" 1998-11-30 2023-01-20 8622 ENSG00000113231 OTTHUMG00000102170 uc003kfa.4 AF079529 NM_003719 "CCDS34191|CCDS87307|CCDS4037|CCDS34192|CCDS34190|CCDS34193" O95263 9784418 MGI:2443999 RGD:735041 603390 226016 objectId:1308 3.1.4.17 HGNC:8794 "ENST00000264917.10|NM_003719.5" HGNC:8794 +HGNC:8795 PDE9A phosphodiesterase 9A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 Phosphodiesterases 681 1998-06-12 2023-01-20 5152 ENSG00000160191 OTTHUMG00000086825 uc002zbx.4 AF048837 NM_001001567 "CCDS33571|CCDS42946|CCDS42944|CCDS42947|CCDS42941|CCDS42942|CCDS33570|CCDS33568|CCDS42945|CCDS33567|CCDS42943|CCDS33569|CCDS13690" O76083 9624146 MGI:1277179 RGD:621035 602973 objectId:1309 3.1.4.17 HGNC:8795 "ENST00000291539.11|NM_002606.3" HGNC:40440 PDE9A-AS1 PDE9A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Antisense RNAs 1987 2019-09-19 2019-09-19 101928284 ENSG00000225731 OTTHUMG00000153501 NR_183525 HGNC:40440 HGNC:8772 PDE10A phosphodiesterase 10A protein-coding gene gene with protein product Approved 6q27 06q27 cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A Phosphodiesterases 681 1999-07-30 2023-03-15 10846 ENSG00000112541 OTTHUMG00000015986 uc003quo.4 AB020593 NM_001130690 CCDS94029 Q9Y233 10373451 MGI:1345143 RGD:68434 610652 objectId:1310 3.1.4.17 HGNC:8772 "ENST00000539869.4|NM_001385079.1" HGNC:8772 -HGNC:8773 PDE11A phosphodiesterase 11A protein-coding gene gene with protein product Approved 2q31.2 02q31.2 Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A Phosphodiesterases 681 2000-06-09 2023-01-20 50940 ENSG00000128655 OTTHUMG00000154188 uc002ulq.4 AJ251509 NM_001077196 "CCDS33334|CCDS46459|CCDS42786|CCDS42785" Q9HCR9 10725373 MGI:3036251 RGD:621793 604961 169910 objectId:1311 3.1.4.17 HGNC:8773 "ENST00000286063.11|NM_016953.4" HGNC:8773 +HGNC:8773 PDE11A phosphodiesterase 11A protein-coding gene gene with protein product Approved 2q31.2 02q31.2 Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A Phosphodiesterases 681 2000-06-09 2023-01-20 50940 ENSG00000128655 OTTHUMG00000154188 uc002ulq.4 AJ251509 NM_001077196 "CCDS46459|CCDS42785|CCDS42786|CCDS33334" Q9HCR9 10725373 MGI:3036251 RGD:621793 604961 169910 objectId:1311 3.1.4.17 HGNC:8773 "ENST00000286063.11|NM_016953.4" HGNC:8773 HGNC:40433 PDE11A-AS1 PDE11A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.2 02q31.2 Antisense RNAs 1987 2019-09-19 2019-09-19 105373764 ENSG00000229941 OTTHUMG00000154189 NR_136171 HGNC:40433 HGNC:25386 PDE12 phosphodiesterase 12 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "DKFZp667B1218|2'-PDE|3635" "2'-phosphodiesterase|mitochondrial deadenylase" 2008-02-27 2023-01-20 201626 ENSG00000174840 OTTHUMG00000158599 uc003diw.5 AK074423 NM_177966 "CCDS33772|CCDS82792" Q6L8Q7 "15231837|26055709" MGI:2443226 RGD:1310975 616519 objectId:3207 HGNC:25386 "ENST00000311180.9|NM_177966.7" HGNC:30012 PDF peptide deformylase, mitochondrial protein-coding gene gene with protein product Approved 16q22.1 16q22.1 peptide deformylase (mitochondrial) 2006-03-17 2017-08-08 2023-01-20 64146 ENSG00000258429 OTTHUMG00000171336 uc002ewx.1 AF239156 NM_022341 CCDS10875 Q9HBH1 "11060042|15489958" MGI:1915273 RGD:1582894 618720 3.5.1.88 HGNC:30012 "ENST00000288022.2|NM_022341.2" -HGNC:8799 PDGFA platelet derived growth factor subunit A protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "PDGF1|PDGF-A" "PDGF A-chain|platelet-derived growth factor alpha chain" platelet-derived growth factor alpha polypeptide 1986-01-01 2016-01-14 2023-01-20 5154 ENSG00000197461 OTTHUMG00000151412 uc003sis.4 NM_001395363 "CCDS34578|CCDS47524" P04085 "1505216|2536956" MGI:97527 RGD:3282 173430 ligandId:5042 HGNC:8799 "ENST00000402802.8|NM_033023.5" +HGNC:8799 PDGFA platelet derived growth factor subunit A protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "PDGF1|PDGF-A" "PDGF A-chain|platelet-derived growth factor alpha chain" platelet-derived growth factor alpha polypeptide 1986-01-01 2016-01-14 2023-01-20 5154 ENSG00000197461 OTTHUMG00000151412 uc003sis.4 NM_001395363 "CCDS47524|CCDS34578" P04085 "1505216|2536956" MGI:97527 RGD:3282 173430 ligandId:5042 HGNC:8799 "ENST00000402802.8|NM_033023.5" HGNC:55865 PDGFA-DT PDGFA divergent transcript non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 HRAT92 heart tissue-associated transcript 92 Divergent transcripts 1990 2021-09-03 2021-09-06 441307 ENSG00000223855 NR_033963 -HGNC:8800 PDGFB platelet derived growth factor subunit B protein-coding gene gene with protein product Approved 22q13.1 22q13.1 SSV "oncogene SIS|becaplermin" SIS "platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)|platelet-derived growth factor beta polypeptide" 2001-06-22 2016-01-14 2023-01-20 5155 ENSG00000100311 OTTHUMG00000151029 uc003axf.4 NM_002608 "CCDS33650|CCDS13987" P01127 "2991848|1661670" MGI:97528 RGD:3283 PDGFB 190040 168409 ligandId:5043 HGNC:8800 "ENST00000331163.11|NM_002608.4" HGNC:8800 +HGNC:8800 PDGFB platelet derived growth factor subunit B protein-coding gene gene with protein product Approved 22q13.1 22q13.1 SSV "oncogene SIS|becaplermin" SIS "platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)|platelet-derived growth factor beta polypeptide" 2001-06-22 2016-01-14 2023-01-20 5155 ENSG00000100311 OTTHUMG00000151029 uc003axf.4 NM_002608 "CCDS13987|CCDS33650" P01127 "2991848|1661670" MGI:97528 RGD:3283 PDGFB 190040 168409 ligandId:5043 HGNC:8800 "ENST00000331163.11|NM_002608.4" HGNC:8800 HGNC:8801 PDGFC platelet derived growth factor C protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "SCDGF|fallotein" 2000-07-31 2023-01-20 56034 ENSG00000145431 OTTHUMG00000161803 uc003iph.3 AF091434 NM_016205 CCDS3795 Q9NRA1 10858496 MGI:1859631 RGD:68410 608452 ligandId:5089 HGNC:8801 "ENST00000502773.6|NM_016205.3" HGNC:30620 PDGFD platelet derived growth factor D protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "SCDGF-B|MSTP036|IEGF" spinal cord derived growth factor B 2004-01-22 2023-01-20 80310 ENSG00000170962 OTTHUMG00000165953 uc001php.4 AF113216 NM_025208 "CCDS8326|CCDS41703" Q9GZP0 "11162582|11980634" MGI:1919035 RGD:621880 609673 ligandId:5323 HGNC:30620 "ENST00000393158.7|NM_025208.5" HGNC:30620 HGNC:8803 PDGFRA platelet derived growth factor receptor alpha protein-coding gene gene with protein product Approved 4q12 04q12 "CD140a|PDGFR2|GAS9" platelet-derived growth factor receptor, alpha polypeptide "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1989-05-19 2016-01-14 2023-01-20 5156 ENSG00000134853 OTTHUMG00000128699 uc003han.5 D50001 NM_006206 CCDS3495 P16234 8643452 MGI:97530 RGD:3284 LRG_309|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_309.xml PDGFRA 173490 124154 objectId:1803 CD140a HGNC:8803 "ENST00000257290.10|NM_006206.6" HGNC:8803 HGNC:8804 PDGFRB platelet derived growth factor receptor beta protein-coding gene gene with protein product Approved 5q32 05q32 "JTK12|CD140b|PDGFR1" PDGFR platelet-derived growth factor receptor, beta polypeptide "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 2001-06-22 2016-01-14 2023-01-20 5159 ENSG00000113721 OTTHUMG00000130053 uc003lro.4 M21616 NM_002609 CCDS4303 P09619 MGI:97531 RGD:3285 PDGFRB 173410 138376 objectId:1804 CD140b HGNC:8804 "ENST00000261799.9|NM_002609.4" HGNC:8804 HGNC:8805 PDGFRL platelet derived growth factor receptor like protein-coding gene gene with protein product Approved 8p22 08p22 PRLTS platelet-derived growth factor receptor-like I-set domain containing 593 1996-10-26 2016-01-14 2023-01-20 5157 ENSG00000104213 OTTHUMG00000130818 uc003wxr.3 D37965 NM_006207 CCDS6003 Q15198 MGI:1916047 RGD:1308028 604584 HGNC:8805 "ENST00000251630.11|NM_001372073.1" HGNC:54778 PDGFRL2P platelet derived growth factor receptor like 2, pseudogene pseudogene pseudogene Approved 5q33.1 05q33.1 2020-01-09 2020-01-09 116435296 ENSG00000285420 NG_068494 -HGNC:8806 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 E1alpha pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial PDHA "pyruvate dehydrogenase (lipoamide) alpha 1|pyruvate dehydrogenase alpha 1" Pyruvate dehydrogenase complex 1547 1989-06-30 2019-11-26 2023-01-20 5160 ENSG00000131828 OTTHUMG00000021224 uc011mjc.3 NM_000284 "CCDS14192|CCDS55380|CCDS55381|CCDS55382" P08559 MGI:97532 RGD:3286 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PDHA1 300502 124161 1.2.4.1 HGNC:8806 "ENST00000422285.7|NM_000284.4" HGNC:8806 +HGNC:8806 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 E1alpha pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial PDHA "pyruvate dehydrogenase (lipoamide) alpha 1|pyruvate dehydrogenase alpha 1" Pyruvate dehydrogenase complex 1547 1989-06-30 2019-11-26 2023-01-20 5160 ENSG00000131828 OTTHUMG00000021224 uc011mjc.3 NM_000284 "CCDS55382|CCDS14192|CCDS55381|CCDS55380" P08559 MGI:97532 RGD:3286 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PDHA1 300502 124161 1.2.4.1 HGNC:8806 "ENST00000422285.7|NM_000284.4" HGNC:8806 HGNC:44636 PDHA1P1 PDHA1 pseudogene 1 pseudogene pseudogene Approved 3p14.3 03p14.3 "pyruvate dehydrogenase (lipoamide) alpha 1 pseudogene 1|pyruvate dehydrogenase alpha 1 pseudogene 1" 2012-11-23 2019-11-26 2019-11-26 100132534 ENSG00000270772 OTTHUMG00000184386 NG_007303 PGOHUM00000299042 HGNC:44636 HGNC:8807 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 protein-coding gene gene with protein product Approved 4q22.3 04q22.3 PDHAL "pyruvate dehydrogenase (lipoamide) alpha 2|pyruvate dehydrogenase alpha 2" 1990-07-11 2019-11-26 2023-01-20 5161 ENSG00000163114 OTTHUMG00000130990 uc003htr.5 NM_005390 CCDS3644 P29803 "2249846|22675509" MGI:97533 RGD:620095 179061 1.2.4.1 HGNC:8807 "ENST00000295266.6|NM_005390.5" -HGNC:8808 PDHB pyruvate dehydrogenase E1 subunit beta protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "PDHE1B|E1beta" pyruvate dehydrogenase (lipoamide) beta Pyruvate dehydrogenase complex 1547 1989-06-30 2019-11-26 2023-01-20 5162 ENSG00000168291 OTTHUMG00000159157 uc003dkf.4 NM_000925 "CCDS2890|CCDS82795|CCDS54602" P11177 17923481 MGI:1915513 RGD:1359146 179060 124164 1.2.4.1 HGNC:8808 "ENST00000302746.11|NM_000925.4" HGNC:8808 -HGNC:21350 PDHX pyruvate dehydrogenase complex component X protein-coding gene gene with protein product Approved 11p13 11p13 "E3BP|proX|PDX1|OPDX|DLDBP" "Pyruvate dehydrogenase complex|MicroRNA protein coding host genes" "1547|1691" 2003-06-24 2015-11-20 2023-01-20 8050 ENSG00000110435 OTTHUMG00000166491 uc001mvt.4 U82328 NM_003477 "CCDS44569|CCDS7896|CCDS53616" O00330 "9467010|12372595" MGI:1351627 RGD:1566332 608769 124166 HGNC:21350 "ENST00000227868.9|NM_003477.3" HGNC:21350 +HGNC:8808 PDHB pyruvate dehydrogenase E1 subunit beta protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "PDHE1B|E1beta" pyruvate dehydrogenase (lipoamide) beta Pyruvate dehydrogenase complex 1547 1989-06-30 2019-11-26 2023-01-20 5162 ENSG00000168291 OTTHUMG00000159157 uc003dkf.4 NM_000925 "CCDS54602|CCDS82795|CCDS2890" P11177 17923481 MGI:1915513 RGD:1359146 179060 124164 1.2.4.1 HGNC:8808 "ENST00000302746.11|NM_000925.4" HGNC:8808 +HGNC:21350 PDHX pyruvate dehydrogenase complex component X protein-coding gene gene with protein product Approved 11p13 11p13 "E3BP|proX|PDX1|OPDX|DLDBP" "Pyruvate dehydrogenase complex|MicroRNA protein coding host genes" "1547|1691" 2003-06-24 2015-11-20 2023-01-20 8050 ENSG00000110435 OTTHUMG00000166491 uc001mvt.4 U82328 NM_003477 "CCDS7896|CCDS53616|CCDS44569" O00330 "9467010|12372595" MGI:1351627 RGD:1566332 608769 124166 HGNC:21350 "ENST00000227868.9|NM_003477.3" HGNC:21350 HGNC:14180 PDIA2 protein disulfide isomerase family A member 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "PDA2|PDI|PDIR" PDIP "protein disulfide isomerase, pancreatic|protein disulfide isomerase-associated 2|protein disulfide isomerase family A, member 2" Protein disulfide isomerases 692 2000-12-21 2005-03-03 2015-11-16 2023-01-20 64714 ENSG00000185615 OTTHUMG00000064891 uc002cgo.2 U19948 NM_006849 CCDS42089 Q13087 8561901 MGI:1916441 RGD:1305164 608012 5.3.4.1 HGNC:14180 "ENST00000219406.11|NM_006849.4" HGNC:4606 PDIA3 protein disulfide isomerase family A member 3 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "P58|ERp61|ERp57|ERp60|GRP57|PI-PLC|HsT17083" GRP58 "glucose regulated protein, 58kDa|protein disulfide isomerase-associated 3|protein disulfide isomerase family A, member 3" Protein disulfide isomerases 692 1997-06-09 2005-03-03 2015-11-16 2023-01-20 2923 ENSG00000167004 OTTHUMG00000044444 uc001zsu.4 NM_005313 CCDS10101 P30101 8974399 MGI:95834 RGD:68430 602046 5.3.4.1 HGNC:4606 "ENST00000300289.10|NM_005313.5" HGNC:4607 PDIA3P1 protein disulfide isomerase family A member 3 pseudogene 1 pseudogene pseudogene Approved 1q21.1 01q21.1 GRP58P glucose regulated protein, 58kDa pseudogene PDIA3P "protein disulfide isomerase-associated 3 pseudogene|protein disulfide isomerase family A, member 3 pseudogene|protein disulfide isomerase family A, member 3 pseudogene 1" 1997-07-22 2013-10-28 2015-11-16 2015-11-16 171423 ENSG00000180867 OTTHUMG00000041049 U75886 NR_002305 9205111 PGOHUM00000244962 HGNC:4607 HGNC:49403 PDIA3P2 protein disulfide isomerase family A member 3 pseudogene 2 pseudogene pseudogene Approved 15q15.3 15q15.3 protein disulfide isomerase family A, member 3 pseudogene 2 2013-10-28 2015-11-16 2015-11-16 106481687 ENSG00000224677 OTTHUMG00000059904 NG_045314 PGOHUM00000247100 HGNC:49403 HGNC:30167 PDIA4 protein disulfide isomerase family A member 4 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "ERP70|ERP72" "protein disulfide isomerase-associated 4|protein disulfide isomerase family A, member 4" Protein disulfide isomerases 692 2005-03-02 2015-11-16 2023-01-20 9601 ENSG00000155660 OTTHUMG00000150248 uc003wff.3 BC001928 NM_004911 "CCDS5893|CCDS94226" P13667 "2549034|2002068" MGI:104864 RGD:619835 620018 5.3.4.1 HGNC:30167 "ENST00000652332.1|NM_004911.5" HGNC:24811 PDIA5 protein disulfide isomerase family A member 5 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "PDIR|FLJ30401" "protein disulfide isomerase-associated 5|protein disulfide isomerase family A, member 5" "Protein disulfide isomerases|MicroRNA protein coding host genes" "692|1691" 2005-03-02 2015-11-16 2023-01-20 10954 ENSG00000065485 OTTHUMG00000159558 uc003egc.3 AK054963 NM_006810 CCDS3020 Q14554 7556671 MGI:1919849 RGD:1359236 616942 5.3.4.1 HGNC:24811 "ENST00000316218.12|NM_006810.4" -HGNC:30168 PDIA6 protein disulfide isomerase family A member 6 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "P5|ERp5" protein disulfide isomerase-related protein TXNDC7 "thioredoxin domain containing 7 (protein disulfide isomerase)|protein disulfide isomerase-associated 6|protein disulfide isomerase family A, member 6" "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2004-03-11 2005-03-03 2015-11-16 2023-01-20 10130 ENSG00000143870 OTTHUMG00000090479 uc002raw.4 BC001312 NM_005742 "CCDS62854|CCDS1675|CCDS62852|CCDS62853|CCDS62855" Q15084 "7590364|12204115" MGI:1919103 RGD:628688 611099 5.3.4.1 HGNC:30168 "ENST00000272227.8|NM_005742.4" +HGNC:30168 PDIA6 protein disulfide isomerase family A member 6 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "P5|ERp5" protein disulfide isomerase-related protein TXNDC7 "thioredoxin domain containing 7 (protein disulfide isomerase)|protein disulfide isomerase-associated 6|protein disulfide isomerase family A, member 6" "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2004-03-11 2005-03-03 2015-11-16 2023-01-20 10130 ENSG00000143870 OTTHUMG00000090479 uc002raw.4 BC001312 NM_005742 "CCDS1675|CCDS62852|CCDS62855|CCDS62853|CCDS62854" Q15084 "7590364|12204115" MGI:1919103 RGD:628688 611099 5.3.4.1 HGNC:30168 "ENST00000272227.8|NM_005742.4" HGNC:18981 PDIK1L PDLIM1 interacting kinase 1 like protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CLIK1L 2004-11-26 2023-01-20 149420 ENSG00000175087 OTTHUMG00000007511 uc010oew.3 AF411102 NM_152835 CCDS274 Q8N165 14631099 MGI:2385213 RGD:1307476 610785 objectId:2141 HGNC:18981 "ENST00000374269.2|NM_152835.5" HGNC:27338 PDILT protein disulfide isomerase like, testis expressed protein-coding gene gene with protein product Approved 16p12.3 16p12.3 PDIA7 "protein disulfide isomerase family A, member 7|protein disulfide isomerase-like protein of the testis" protein disulfide isomerase-like, testis expressed Protein disulfide isomerases 692 2009-02-20 2016-03-29 2023-01-20 204474 ENSG00000169340 OTTHUMG00000131487 uc002dhc.2 NM_174924 CCDS10584 Q8N807 15475357 MGI:1919080 RGD:1307822 618588 HGNC:27338 "ENST00000302451.9|NM_174924.2" -HGNC:8809 PDK1 pyruvate dehydrogenase kinase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "pyruvate dehydrogenase kinase, isoenzyme 1|pyruvate dehydrogenase kinase, isozyme 1" 1996-08-14 2016-01-06 2023-01-20 5163 ENSG00000152256 OTTHUMG00000132285 uc002uhs.5 L42450 NM_002610 "CCDS2250|CCDS63059" Q15118 7499431 MGI:1926119 RGD:69427 602524 objectId:2915 HGNC:8809 "ENST00000282077.8|NM_002610.5" -HGNC:40441 PDK1-AS1 PDK1 and ITGA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 lncIHAT lncRNA induced by hypoxia and abundant in TNBC Antisense RNAs 1987 2021-12-02 2023-01-23 123706517 ENSG00000225205 OTTHUMG00000154088 33380467 +HGNC:8809 PDK1 pyruvate dehydrogenase kinase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "pyruvate dehydrogenase kinase, isoenzyme 1|pyruvate dehydrogenase kinase, isozyme 1" 1996-08-14 2016-01-06 2023-01-20 5163 ENSG00000152256 OTTHUMG00000132285 uc002uhs.5 L42450 NM_002610 "CCDS63059|CCDS2250" Q15118 7499431 MGI:1926119 RGD:69427 602524 objectId:2915 HGNC:8809 "ENST00000282077.8|NM_002610.5" +HGNC:40441 PDK1-AS1 PDK1 and ITGA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 lncIHAT lncRNA induced by hypoxia and abundant in TNBC Antisense RNAs 1987 2021-12-02 2023-06-12 124900513 ENSG00000225205 OTTHUMG00000154088 NR_186177 33380467 HGNC:49808 PDK1P1 pyruvate dehydrogenase kinase 1 pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 pyruvate dehydrogenase kinase, isozyme 1 pseudogene 1 2014-03-06 2016-01-06 2016-01-06 100421194 NG_023886 PGOHUM00000236421 HGNC:49808 HGNC:55004 PDK1P2 PDK1 pseudogene 2 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 2020-05-20 2020-05-20 100129843 ENSG00000233446 NG_022677 HGNC:8810 PDK2 pyruvate dehydrogenase kinase 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 PDHK2 "pyruvate dehydrogenase kinase, isoenzyme 2|pyruvate dehydrogenase kinase, isozyme 2" 1996-08-14 2016-01-06 2023-01-20 5164 ENSG00000005882 OTTHUMG00000161948 uc002iqc.4 L42451 NM_002611 "CCDS56039|CCDS11559" Q15119 7499431 MGI:1343087 RGD:69428 602525 objectId:2142 HGNC:8810 "ENST00000503176.6|NM_002611.5" -HGNC:8811 PDK3 pyruvate dehydrogenase kinase 3 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "pyruvate dehydrogenase kinase, isoenzyme 3|pyruvate dehydrogenase kinase, isozyme 3" 1996-08-14 2016-01-06 2023-01-20 5165 ENSG00000067992 OTTHUMG00000021269 uc004dbg.4 L42452 NM_005391 "CCDS14212|CCDS48088" Q15120 7499431 MGI:2384308 RGD:1593276 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PDK3 300906 356172 objectId:2143 HGNC:8811 "ENST00000379162.9|NM_005391.5" HGNC:8811 +HGNC:8811 PDK3 pyruvate dehydrogenase kinase 3 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "pyruvate dehydrogenase kinase, isoenzyme 3|pyruvate dehydrogenase kinase, isozyme 3" 1996-08-14 2016-01-06 2023-01-20 5165 ENSG00000067992 OTTHUMG00000021269 uc004dbg.4 L42452 NM_005391 "CCDS48088|CCDS14212" Q15120 7499431 MGI:2384308 RGD:1593276 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PDK3 300906 356172 objectId:2143 HGNC:8811 "ENST00000379162.9|NM_005391.5" HGNC:8811 HGNC:8812 PDK4 pyruvate dehydrogenase kinase 4 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "pyruvate dehydrogenase kinase, isoenzyme 4|pyruvate dehydrogenase kinase, isozyme 4" 1996-08-14 2016-01-06 2023-01-20 5166 ENSG00000004799 OTTHUMG00000153977 uc003uoa.4 U54617 NM_002612 CCDS5643 Q16654 7499431 MGI:1351481 RGD:69061 602527 objectId:2144 HGNC:8812 "ENST00000005178.6|NM_002612.4" HGNC:55767 PDK4-AS1 PDK4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 Antisense RNAs 1987 2021-07-22 2021-07-22 107986824 ENSG00000231170 XR_001745287 HGNC:2067 PDLIM1 PDZ and LIM domain 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "CLP-36|hCLIM1|CLP36" "carboxyl terminal LIM domain protein 1|elfin" CLIM1 PDZ and LIM domain 1 (elfin) "LIM domain containing|PDZ domain containing" "1218|1220" 1998-01-21 2008-07-29 2023-01-20 9124 ENSG00000107438 OTTHUMG00000018810 uc001kkh.5 U90878 NM_020992 CCDS7441 O00151 10861853 MGI:1860611 RGD:68324 605900 HGNC:2067 "ENST00000329399.7|NM_020992.4" @@ -25124,17 +25126,17 @@ HGNC:20026 PDLIM1P1 PDZ and LIM domain 1 pseudogene 1 pseudogene pseudogene Appr HGNC:48945 PDLIM1P2 PDZ and LIM domain 1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2013-07-22 2013-07-22 100419426 ENSG00000265881 OTTHUMG00000179030 NG_026158 PGOHUM00000236979 HGNC:48945 HGNC:48946 PDLIM1P3 PDZ and LIM domain 1 pseudogene 3 pseudogene pseudogene Approved 17q11.1 17q11.1 2013-07-22 2013-07-22 100419427 ENSG00000264172 OTTHUMG00000179165 NG_026160 PGOHUM00000236993 HGNC:48946 HGNC:48947 PDLIM1P4 PDZ and LIM domain 1 pseudogene 4 pseudogene pseudogene Approved 3q12.1 03q12.1 2013-07-22 2013-07-22 100419185 ENSG00000249274 OTTHUMG00000159051 NG_025722 PGOHUM00000238114 HGNC:48947 -HGNC:13992 PDLIM2 PDZ and LIM domain 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 mystique "LIM domain containing|PDZ domain containing" "1218|1220" 2000-12-08 2016-02-16 2023-01-20 64236 ENSG00000120913 OTTHUMG00000164270 uc064laq.1 AY007729 NM_001368120 "CCDS6032|CCDS34860|CCDS34861|CCDS94264" Q96JY6 MGI:2384850 RGD:1359203 609722 HGNC:13992 "ENST00000409417.6|NM_001368120.1" -HGNC:20767 PDLIM3 PDZ and LIM domain 3 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 ALP "LIM domain containing|PDZ domain containing" "1218|1220" 2004-02-06 2023-01-20 27295 ENSG00000154553 OTTHUMG00000160412 uc003ixw.5 AF002280 NM_014476 "CCDS75218|CCDS3844|CCDS47172|CCDS75219" Q53GG5 "10063829|8828038" MGI:1859274 RGD:620427 LRG_752|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_752.xml 605889 470844 HGNC:20767 "ENST00000284767.12|NM_014476.6" HGNC:20767 -HGNC:16501 PDLIM4 PDZ and LIM domain 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 RIL "LIM domain containing|PDZ domain containing" "1218|1220" 2004-02-12 2023-01-20 8572 ENSG00000131435 OTTHUMG00000059645 uc003kwn.4 AF153882 NM_003687 "CCDS47261|CCDS4152" P50479 9573374 MGI:1353470 RGD:3575 603422 HGNC:16501 "ENST00000253754.8|NM_003687.4" -HGNC:17468 PDLIM5 PDZ and LIM domain 5 protein-coding gene gene with protein product Approved 4q22.3 04q22.3 "LIM|Enh" "LIM domain containing|PDZ domain containing" "1218|1220" 2005-01-12 2023-03-15 10611 ENSG00000163110 OTTHUMG00000130973 uc003hti.5 AF061258 NM_001011513 "CCDS47103|CCDS58916|CCDS3641|CCDS58915|CCDS75166|CCDS58917|CCDS47102|CCDS47104" Q96HC4 15346770 MGI:1927489 RGD:621076 605904 HGNC:17468 "ENST00000317968.9|NM_006457.5" -HGNC:22958 PDLIM7 PDZ and LIM domain 7 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 ENIGMA PDZ and LIM domain 7 (enigma) "LIM domain containing|PDZ domain containing" "1218|1220" 2004-02-11 2015-11-26 2023-03-15 9260 ENSG00000196923 OTTHUMG00000130853 uc003mhc.3 BC001093 NM_005451 "CCDS4423|CCDS4424|CCDS4422" Q9NR12 11874232 MGI:1914649 RGD:628769 605903 470846 HGNC:22958 "ENST00000355841.7|NM_005451.5" +HGNC:13992 PDLIM2 PDZ and LIM domain 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 mystique "LIM domain containing|PDZ domain containing" "1218|1220" 2000-12-08 2016-02-16 2023-01-20 64236 ENSG00000120913 OTTHUMG00000164270 uc064laq.1 AY007729 NM_001368120 "CCDS34860|CCDS94264|CCDS34861|CCDS6032" Q96JY6 MGI:2384850 RGD:1359203 609722 HGNC:13992 "ENST00000409417.6|NM_001368120.1" +HGNC:20767 PDLIM3 PDZ and LIM domain 3 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 ALP "LIM domain containing|PDZ domain containing" "1218|1220" 2004-02-06 2023-01-20 27295 ENSG00000154553 OTTHUMG00000160412 uc003ixw.5 AF002280 NM_014476 "CCDS3844|CCDS75219|CCDS75218|CCDS47172" Q53GG5 "10063829|8828038" MGI:1859274 RGD:620427 LRG_752|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_752.xml 605889 470844 HGNC:20767 "ENST00000284767.12|NM_014476.6" HGNC:20767 +HGNC:16501 PDLIM4 PDZ and LIM domain 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 RIL "LIM domain containing|PDZ domain containing" "1218|1220" 2004-02-12 2023-01-20 8572 ENSG00000131435 OTTHUMG00000059645 uc003kwn.4 AF153882 NM_003687 "CCDS4152|CCDS47261" P50479 9573374 MGI:1353470 RGD:3575 603422 HGNC:16501 "ENST00000253754.8|NM_003687.4" +HGNC:17468 PDLIM5 PDZ and LIM domain 5 protein-coding gene gene with protein product Approved 4q22.3 04q22.3 "LIM|Enh" "LIM domain containing|PDZ domain containing" "1218|1220" 2005-01-12 2023-03-15 10611 ENSG00000163110 OTTHUMG00000130973 uc003hti.5 AF061258 NM_001011513 "CCDS3641|CCDS75166|CCDS47104|CCDS58916|CCDS58915|CCDS58917|CCDS47103|CCDS47102" Q96HC4 15346770 MGI:1927489 RGD:621076 605904 HGNC:17468 "ENST00000317968.9|NM_006457.5" +HGNC:22958 PDLIM7 PDZ and LIM domain 7 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 ENIGMA PDZ and LIM domain 7 (enigma) "LIM domain containing|PDZ domain containing" "1218|1220" 2004-02-11 2015-11-26 2023-03-15 9260 ENSG00000196923 OTTHUMG00000130853 uc003mhc.3 BC001093 NM_005451 "CCDS4423|CCDS4422|CCDS4424" Q9NR12 11874232 MGI:1914649 RGD:628769 605903 470846 HGNC:22958 "ENST00000355841.7|NM_005451.5" HGNC:41004 PDLIM7-AS1 PDLIM7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Antisense RNAs 1987 2021-04-23 2021-04-23 121232374 ENSG00000248996 OTTHUMG00000163398 HGNC:9279 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "PDP|PDH|PPM2A" protein phosphatase, Mg2+/Mn2+ dependent 2A PPM2C protein phosphatase 2C, magnesium-dependent, catalytic subunit Protein phosphatases, Mg2+/Mn2+ dependent 701 1994-07-06 2009-06-12 2021-02-11 2023-01-20 54704 ENSG00000164951 OTTHUMG00000164356 uc003yge.4 AF155661 NM_018444 "CCDS6259|CCDS55262" Q9P0J1 8396421 MGI:2685870 RGD:620393 605993 158072 3.1.3.43 HGNC:9279 "ENST00000297598.5|NM_018444.4" HGNC:9279 HGNC:30263 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "KIAA1348|PPM2C2|PPM2B" "protein phosphatase 2C, magnesium-dependent, catalytic subunit 2|protein phosphatase, Mg2+/Mn2+ dependent 2B|[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase" Protein phosphatases, Mg2+/Mn2+ dependent 701 2009-06-12 2022-03-23 2023-01-20 57546 ENSG00000172840 OTTHUMG00000137512 uc002eqk.3 AB037769 NM_020786 CCDS10822 Q9P2J9 9651365 MGI:1918878 RGD:628812 LRG_1088|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1088.xml 615499 3.1.3.43 HGNC:30263 "ENST00000311765.4|NM_020786.4" -HGNC:8816 PDPK1 3-phosphoinositide dependent protein kinase 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 PDK1 PkB kinase AGC family kinases 1625 1998-03-23 2014-03-20 2023-01-20 5170 ENSG00000140992 OTTHUMG00000128874 uc002cqs.5 AF017995 NM_001261816 "CCDS10473|CCDS10472|CCDS58411" O15530 "9094314|9445477" MGI:1338068 RGD:620307 605213 objectId:1519 HGNC:8816 "ENST00000342085.9|NM_002613.5" +HGNC:8816 PDPK1 3-phosphoinositide dependent protein kinase 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 PDK1 PkB kinase AGC family kinases 1625 1998-03-23 2014-03-20 2023-01-20 5170 ENSG00000140992 OTTHUMG00000128874 uc002cqs.5 AF017995 NM_001261816 "CCDS58411|CCDS10473|CCDS10472" O15530 "9094314|9445477" MGI:1338068 RGD:620307 605213 objectId:1519 HGNC:8816 "ENST00000342085.9|NM_002613.5" HGNC:49897 PDPK2P 3-phosphoinositide dependent protein kinase 2, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 2014-03-20 2019-08-08 653650 ENSG00000205918 OTTHUMG00000177286 NG_005595 Q6A1A2 31368655 MGI:1338068 PGOHUM00000262269 HGNC:49897 -HGNC:29602 PDPN podoplanin protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "T1A-2|Gp38|aggrus|GP40|PA2.26|D2-40" lung type I cell membrane associated glycoprotein 2005-07-08 2023-01-20 10630 ENSG00000162493 OTTHUMG00000007912 uc001avd.4 "AB127958|AY194238" NM_006474 "CCDS44060|CCDS30602|CCDS53270|CCDS41266" Q86YL7 "10393083|9651190" MGI:103098 RGD:61819 608863 HGNC:29602 "ENST00000621990.5|NM_006474.5" +HGNC:29602 PDPN podoplanin protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "T1A-2|Gp38|aggrus|GP40|PA2.26|D2-40" lung type I cell membrane associated glycoprotein 2005-07-08 2023-01-20 10630 ENSG00000162493 OTTHUMG00000007912 uc001avd.4 "AB127958|AY194238" NM_006474 "CCDS41266|CCDS30602|CCDS44060|CCDS53270" Q86YL7 "10393083|9651190" MGI:103098 RGD:61819 608863 HGNC:29602 "ENST00000621990.5|NM_006474.5" HGNC:30264 PDPR pyruvate dehydrogenase phosphatase regulatory subunit protein-coding gene gene with protein product Approved 16q22.1 16q22.1 PDP3 2010-08-24 2023-01-20 55066 ENSG00000090857 OTTHUMG00000176963 uc002eyf.2 NM_017990 "CCDS82007|CCDS45520" Q8NCN5 9395502 MGI:2442188 RGD:1308307 617835 HGNC:30264 "ENST00000288050.9|NM_017990.5" HGNC:27556 PDPR2P pyruvate dehydrogenase phosphatase regulatory subunit 2, pseudogene pseudogene pseudogene Approved 16q23.1 16q23.1 2020-11-11 2020-11-11 283922 ENSG00000214331 NR_026950 HGNC:16119 PDRG1 p53 and DNA damage regulated 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 dJ310O13.3 C20orf126 "chromosome 20 open reading frame 126|p53 and DNA-damage regulated 1" 2001-07-17 2004-10-07 2015-11-16 2023-01-20 81572 ENSG00000088356 OTTHUMG00000032196 uc002wxd.4 AL031658 NM_030815 CCDS13194 Q9NUG6 14562055 MGI:1915809 RGD:1305096 610789 HGNC:16119 "ENST00000202017.6|NM_030815.3" @@ -25146,7 +25148,7 @@ HGNC:49740 PDSS1P1 decaprenyl diphosphate synthase subunit 1 pseudogene 1 pseudo HGNC:49741 PDSS1P2 decaprenyl diphosphate synthase subunit 1 pseudogene 2 pseudogene pseudogene Approved 2p21 not on reference assembly 02p21 not on reference assembly prenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 2 2014-02-13 2016-11-30 2016-11-30 100996500 ENSG00000224637 OTTHUMG00000152784 PGOHUM00000250455 HGNC:23041 PDSS2 decaprenyl diphosphate synthase subunit 2 protein-coding gene gene with protein product Approved 6q21 06q21 "bA59I9.3|COQ1B" C6orf210 "chromosome 6 open reading frame 210|prenyl (decaprenyl) diphosphate synthase, subunit 2" 2003-11-26 2006-02-14 2016-11-30 2023-01-20 57107 ENSG00000164494 OTTHUMG00000059359 uc003prt.3 AF254956 NM_020381 CCDS5059 Q86YH6 16262699 MGI:1918615 RGD:1359372 610564 205928 HGNC:23041 "ENST00000369037.9|NM_020381.4" HGNC:23041 HGNC:6107 PDX1 pancreatic and duodenal homeobox 1 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "IDX-1|STF-1|PDX-1|MODY4|GSF|IUF-1" "Islet/duodenum homeobox-1|somatostatin transcription factor 1|Glucose-sensitive factor|insulin upstream factor 1" IPF1 insulin promoter factor 1, homeodomain transcription factor HOXL subclass homeoboxes 518 1995-01-30 2006-12-01 2006-12-01 2023-01-20 3651 ENSG00000139515 OTTHUMG00000016638 uc001urt.3 AF035260 NM_000209 CCDS9327 P52945 7590740 MGI:102851 RGD:62387 600733 8544 124173 HGNC:6107 "ENST00000381033.5|NM_000209.4" HGNC:6107 -HGNC:28995 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 KIAA0251 2007-03-26 2016-06-08 2023-01-20 23042 ENSG00000179889 OTTHUMG00000166304 uc002dda.6 "AK025504|BX647809" NM_015027 "CCDS66955|CCDS73830|CCDS73831|CCDS32393|CCDS66954|CCDS66957" Q6P996 MGI:1920909 RGD:1562597 614244 HGNC:28995 "ENST00000396410.9|NM_015027.4" +HGNC:28995 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 KIAA0251 2007-03-26 2016-06-08 2023-01-20 23042 ENSG00000179889 OTTHUMG00000166304 uc002dda.6 "AK025504|BX647809" NM_015027 "CCDS32393|CCDS73831|CCDS73830|CCDS66957|CCDS66954|CCDS66955" Q6P996 MGI:1920909 RGD:1562597 614244 HGNC:28995 "ENST00000396410.9|NM_015027.4" HGNC:27559 PDXDC2P pyridoxal dependent decarboxylase domain containing 2, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 DKFZp761H1120 PDXDC2 pyridoxal-dependent decarboxylase domain containing 2 2007-03-26 2010-09-02 2016-06-08 2020-04-21 109731405 ENSG00000255185 OTTHUMG00000167595 uc002eyc.4 NG_052916 Q6P474 MGI:1920909 PGOHUM00000293643 HGNC:27559 HGNC:53158 PDXDC2P-NPIPB14P PDXDC2P-NPIPB14P readthrough, transcribed pseudogene other readthrough Approved 16q22.1 16q22.1 2023-02-22 2023-02-22 283970 ENSG00000196696 NR_003610 HGNC:8819 PDXK pyridoxal kinase protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "PNK|PKH|FLJ21324|PRED79|FLJ31940|MGC15873" pyridoxine kinase "C21orf97|C21orf124" "chromosome 21 open reading frame 97|chromosome 21 open reading frame 124|pyridoxal (pyridoxine, vitamin B6) kinase" 1998-12-03 2017-01-11 2023-01-20 8566 ENSG00000160209 OTTHUMG00000086870 uc002zdm.5 U89606 NM_003681 "CCDS13699|CCDS82679" O00764 "9099727|31187503" MGI:1351869 179020 2.7.1.35 HGNC:8819 "ENST00000291565.9|NM_003681.5" HGNC:8819 @@ -25164,9 +25166,9 @@ HGNC:8821 PDZK1 PDZ domain containing 1 protein-coding gene gene with protein pr HGNC:16887 PDZK1IP1 PDZK1 interacting protein 1 protein-coding gene gene with protein product Approved 1p33 01p33 "DD96|MAP17|SPAP" 2005-04-14 2023-01-20 10158 ENSG00000162366 OTTHUMG00000007852 uc057ghl.1 U21049 NM_005764 CCDS546 Q13113 "9815914|8701988|12754212|12837682" MGI:1914432 RGD:620952 607178 HGNC:16887 "ENST00000294338.7|NM_005764.4" HGNC:31974 PDZK1P1 PDZ domain containing 1 pseudogene 1 pseudogene pseudogene Approved 1q21.2 01q21.2 "OTTHUMT00000038524|OTTHUMG00000074107" PDZK1P2 PDZ domain containing 1 pseudogene 2 2007-03-19 2020-04-20 100034743 ENSG00000215859 OTTHUMG00000013940 AL390725 NR_111936 A8MUH7 MGI:1928901 PGOHUM00000295880 HGNC:31974 HGNC:51488 PDZPH1P PDZ and pleckstrin homology domains 1, pseudogene pseudogene pseudogene Approved 5q21.2 05q21.2 PDZ domain containing 1220 2015-01-19 2015-01-19 105379197 ENSG00000226926 OTTHUMG00000154669 NG_046694 MGI:1916489 RGD:1560925 HGNC:51488 -HGNC:17704 PDZRN3 PDZ domain containing ring finger 3 protein-coding gene gene with protein product Approved 3p13 03p13 "KIAA1095|SEMACAP3|LNX3|SEMCAP3" likely ortholog of mouse semaF cytoplasmic domain associated protein 3 "Ring finger proteins|PDZ domain containing|Zinc fingers TRAF-type" "58|1220|2139" 2004-04-20 2008-08-14 2023-01-20 23024 ENSG00000121440 OTTHUMG00000158865 uc003dpl.2 AB029018 NM_015009 "CCDS33789|CCDS77771|CCDS77770" Q9UPQ7 10470851 MGI:1933157 RGD:1305250 609729 HGNC:17704 "ENST00000263666.9|NM_015009.3" +HGNC:17704 PDZRN3 PDZ domain containing ring finger 3 protein-coding gene gene with protein product Approved 3p13 03p13 "KIAA1095|SEMACAP3|LNX3|SEMCAP3" likely ortholog of mouse semaF cytoplasmic domain associated protein 3 "Ring finger proteins|PDZ domain containing|Zinc fingers TRAF-type" "58|1220|2139" 2004-04-20 2008-08-14 2023-01-20 23024 ENSG00000121440 OTTHUMG00000158865 uc003dpl.2 AB029018 NM_015009 "CCDS77771|CCDS77770|CCDS33789" Q9UPQ7 10470851 MGI:1933157 RGD:1305250 609729 HGNC:17704 "ENST00000263666.9|NM_015009.3" HGNC:40814 PDZRN3-AS1 PDZRN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p13 03p13 PDZRN3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 101927249 ENSG00000239677 OTTHUMG00000158864 uc062lol.1 NR_046681 PDZRN3-AS1 HGNC:40814 -HGNC:30552 PDZRN4 PDZ domain containing ring finger 4 protein-coding gene gene with protein product Approved 12q12 12q12 "DKFZp434B0417|LNX4|FLJ33777|IMAGE5767589" similar to semaF cytoplasmic domain associated protein 3 "Ring finger proteins|PDZ domain containing" "58|1220" 2004-04-20 2008-08-14 2023-01-20 29951 ENSG00000165966 OTTHUMG00000169364 uc010skn.3 AK094690 NM_013377 "CCDS53777|CCDS8739" Q6ZMN7 "11230166|15010864" MGI:3056996 RGD:1308860 609730 HGNC:30552 "ENST00000402685.7|NM_001164595.2" +HGNC:30552 PDZRN4 PDZ domain containing ring finger 4 protein-coding gene gene with protein product Approved 12q12 12q12 "DKFZp434B0417|LNX4|FLJ33777|IMAGE5767589" similar to semaF cytoplasmic domain associated protein 3 "Ring finger proteins|PDZ domain containing" "58|1220" 2004-04-20 2008-08-14 2023-01-20 29951 ENSG00000165966 OTTHUMG00000169364 uc010skn.3 AK094690 NM_013377 "CCDS8739|CCDS53777" Q6ZMN7 "11230166|15010864" MGI:3056996 RGD:1308860 609730 HGNC:30552 "ENST00000402685.7|NM_001164595.2" HGNC:8822 PEA15 proliferation and apoptosis adaptor protein 15 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "HMAT1|MAT1|PED|PEA-15|MAT1H|HUMMAT1H|PED-PEA15|PED/PEA15" "Phosphoprotein enriched in astrocytes, 15kD|homolog of mouse MAT-1 oncogene|Phosphoprotein enriched in diabetes" "phosphoprotein enriched in astrocytes 15|proliferation and apoptosis adaptor 15" Death effector domain containing 1019 1998-11-06 2017-08-10 2023-01-20 8682 ENSG00000162734 OTTHUMG00000031605 uc001fvk.4 Y13736 NM_003768 "CCDS76227|CCDS72954|CCDS1199" Q15121 "26317969|25489735|28216548" MGI:104799 RGD:1306055 603434 HGNC:8822 "ENST00000360472.9|NM_003768.5" HGNC:29431 PEAK1 pseudopodium enriched atypical kinase 1 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "KIAA2002|sgk269" 2013-09-27 2016-01-13 2023-01-20 79834 ENSG00000173517 OTTHUMG00000172618 NM_001385026 CCDS42062 Q9H792 "16879967|20534451" MGI:2442366 RGD:1312026 614248 HGNC:29431 "ENST00000682557.1|NM_001385026.1" HGNC:24793 PEAK3 PEAK family member 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ45778 C19orf35 chromosome 19 open reading frame 35 2004-07-30 2017-08-03 2017-08-03 2023-01-20 374872 ENSG00000188305 OTTHUMG00000178460 uc002lvn.3 AK127680 NM_198532 CCDS12087 Q6ZS72 "30906642|31311869" 618526 HGNC:24793 "ENST00000342063.5|NM_198532.3" @@ -25178,56 +25180,56 @@ HGNC:44345 PEBP1P3 phosphatidylethanolamine binding protein 1 pseudogene 3 pseud HGNC:28319 PEBP4 phosphatidylethanolamine binding protein 4 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "MGC22776|CORK1|hPEBP4" cousin-of-RKIP 1 protein 2009-07-09 2015-11-20 2023-01-20 157310 ENSG00000134020 OTTHUMG00000163749 uc003xcn.2 BC020779 NM_144962 CCDS43724 Q96S96 "15302887|16865237" MGI:1920773 RGD:1593295 612473 HGNC:28319 "ENST00000256404.8|NM_144962.3" HGNC:8823 PECAM1 platelet and endothelial cell adhesion molecule 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 CD31 CD31 antigen platelet/endothelial cell adhesion molecule 1 "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1995-11-29 2016-04-01 2023-01-20 5175 ENSG00000261371 OTTHUMG00000175829 uc032fos.2 "L34631|M37780" NM_000442 CCDS74132 P16284 "8661055|1690453" MGI:97537 RGD:61927 173445 CD31 HGNC:8823 "ENST00000563924.6|NM_000442.5" HGNC:18281 PECR peroxisomal trans-2-enoyl-CoA reductase protein-coding gene gene with protein product Approved 2q35 02q35 "HSA250303|TERP|SDR29C1" short chain dehydrogenase/reductase family 29C, member 1 Short chain dehydrogenase/reductase superfamily 743 2004-01-09 2023-01-20 55825 ENSG00000115425 OTTHUMG00000154825 uc002vft.4 AF119841 NM_018441 CCDS33375 Q9BY49 "10811639|11669066|19027726" MGI:2148199 RGD:70925 605843 1.3.1.38 HGNC:18281 "ENST00000265322.8|NM_018441.6" -HGNC:16735 PEDS1 plasmanylethanolamine desaturase 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "Kua|CarF" TMEM189 transmembrane protein 189 2007-07-27 2020-05-27 2020-05-27 2023-01-20 387521 ENSG00000240849 OTTHUMG00000152625 uc002xvg.3 AF155120 NM_199129 "CCDS54473|CCDS13428" A5PLL7 "11076860|31604315|32209662" MGI:2142624 RGD:1309093 610994 1.14.99.19 HGNC:16735 "ENST00000371652.9|NM_199129.4" +HGNC:16735 PEDS1 plasmanylethanolamine desaturase 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "Kua|CarF" TMEM189 transmembrane protein 189 2007-07-27 2020-05-27 2020-05-27 2023-01-20 387521 ENSG00000240849 OTTHUMG00000152625 uc002xvg.3 AF155120 NM_199129 "CCDS13428|CCDS54473" A5PLL7 "11076860|31604315|32209662" MGI:2142624 RGD:1309093 610994 1.14.99.19 HGNC:16735 "ENST00000371652.9|NM_199129.4" HGNC:33521 PEDS1-UBE2V1 PEDS1-UBE2V1 readthrough other readthrough Approved 20q13.13 20q13.13 "Kua-UEV|CROC-1B" TMEM189-UBE2V1 TMEM189-UBE2V1 readthrough 2007-07-31 2020-05-27 2020-05-27 2023-03-15 387522 ENSG00000124208 OTTHUMG00000033085 uc002xvf.4 U39361 NM_199203 11076860 "MGI:1913839|MGI:2142624" HGNC:33521 HGNC:30009 PEF1 penta-EF-hand domain containing 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 PEF1A peflin EF-hand domain containing 863 2005-05-09 2023-01-20 553115 ENSG00000162517 OTTHUMG00000003877 uc001bth.3 NM_012392 CCDS345 Q9UBV8 "10486255|11883899" MGI:1915148 RGD:1359536 610033 HGNC:30009 "ENST00000373703.5|NM_012392.4" HGNC:40154 PEF1-AS1 PEF1 and COL16A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p35.2 01p35.2 Antisense RNAs 1987 2019-07-25 2019-07-25 107985471 ENSG00000235790 OTTHUMG00000003881 NR_184311 HGNC:40154 -HGNC:8826 PEG3 paternally expressed 3 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZKSCAN22|KIAA0287|ZNF904|ZSCAN24" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1997-05-29 2023-01-20 5178 ENSG00000198300 OTTHUMG00000171954 uc002qnv.3 AB006625 NM_001146184 "CCDS12948|CCDS92696|CCDS58684|CCDS58685" Q9GZU2 9149948 MGI:104748 RGD:2323590 601483 HGNC:8826 "ENST00000326441.15|NM_006210.3" +HGNC:8826 PEG3 paternally expressed 3 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZKSCAN22|KIAA0287|ZNF904|ZSCAN24" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1997-05-29 2023-01-20 5178 ENSG00000198300 OTTHUMG00000171954 uc002qnv.3 AB006625 NM_001146184 "CCDS92696|CCDS58684|CCDS12948|CCDS58685" Q9GZU2 9149948 MGI:104748 RGD:2323590 601483 HGNC:8826 "ENST00000326441.15|NM_006210.3" HGNC:35127 PEG3-AS1 PEG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 "APEG3|NCRNA00155" "antisense PEG3 transcript|non-protein coding RNA 155" "PEG3AS|PEG3-AS" "PEG3 antisense RNA (non-protein coding)|PEG3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-09-22 2010-11-25 2012-08-15 2014-03-19 100169890 NR_023847 "18166281|15950772|24582979" PEG3-AS1 HGNC:35127 -HGNC:14005 PEG10 paternally expressed 10 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "KIAA1051|HB-1|MEF3L|RGAG3|Mar2|Mart2|SIRH1|RTL2" "Sushi-Ichi retrotransposon homolog 1|mammalian retrotransposon-derived 2|retrotransposon Gag like 2" Retrotransposon Gag like 1409 2000-11-28 2023-01-20 23089 ENSG00000242265 OTTHUMG00000155578 uc064flv.1 AB049834 NM_015068 "CCDS55126|CCDS75637|CCDS75636" Q86TG7 "11318613|15716091|16093683" MGI:2157785 RGD:1595574 LRG_1097|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1097.xml 609810 HGNC:14005 +HGNC:14005 PEG10 paternally expressed 10 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "KIAA1051|HB-1|MEF3L|RGAG3|Mar2|Mart2|SIRH1|RTL2" "Sushi-Ichi retrotransposon homolog 1|mammalian retrotransposon-derived 2|retrotransposon Gag like 2" Retrotransposon Gag like 1409 2000-11-28 2023-01-20 23089 ENSG00000242265 OTTHUMG00000155578 uc064flv.1 AB049834 NM_015068 "CCDS75636|CCDS75637|CCDS55126" Q86TG7 "11318613|15716091|16093683" MGI:2157785 RGD:1595574 LRG_1097|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1097.xml 609810 HGNC:14005 HGNC:19969 PEG13 paternally expressed 13 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 Long non-coding RNAs with non-systematic symbols 1992 2003-07-16 2018-09-07 359809 ENSG00000282164 OTTHUMG00000191428 AK307073 NR_144431 "24402520|24667089|24980697" MGI:2663476 PEG13 HGNC:19969 HGNC:50328 PELATON plaque enriched lncRNA in atherosclerotic and inflammatory bowel macrophage regulation non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 GCRL1 GC-related lncRNA1 "LINC01272|SMIM25" "long intergenic non-protein coding RNA 1272|small integral membrane protein 25" Long non-coding RNAs with non-systematic symbols 1992 2014-04-15 2019-12-18 2019-12-18 2020-06-18 100506115 ENSG00000224397 OTTHUMG00000032721 NR_170991 "29789536|31826651" HGNC:50328 HGNC:8827 PELI1 pellino E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 2p14 02p14 "pellino (Drosophila) homolog 1|pellino homolog 1 (Drosophila)" Pellino E3 ubiquitin protein ligases 676 2000-09-01 2012-02-23 2023-01-20 57162 ENSG00000197329 OTTHUMG00000129511 uc002sct.5 NM_020651 CCDS1876 Q96FA3 "11306823|16951688" MGI:1914495 RGD:1311199 614797 HGNC:8827 "ENST00000358912.5|NM_020651.4" HGNC:8828 PELI2 pellino E3 ubiquitin protein ligase family member 2 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "pellino (Drosophila) homolog 2|pellino homolog 2 (Drosophila)" Pellino E3 ubiquitin protein ligases 676 2000-09-01 2012-02-23 2023-01-20 57161 ENSG00000139946 OTTHUMG00000152336 uc001xch.4 AF302502 NM_021255 CCDS9726 Q9HAT8 "11306823|12860405" MGI:1891445 RGD:1565884 614798 HGNC:8828 "ENST00000267460.9|NM_021255.3" -HGNC:30010 PELI3 pellino E3 ubiquitin protein ligase family member 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 MGC35521 pellino homolog 3 (Drosophila) Pellino E3 ubiquitin protein ligases 676 2005-08-16 2012-02-23 2023-01-20 246330 ENSG00000174516 OTTHUMG00000167109 uc001oid.5 AL834395 NM_145065 "CCDS41675|CCDS73328|CCDS31615" Q8N2H9 "12874243|15917247" MGI:1924963 RGD:1305989 609827 HGNC:30010 "ENST00000320740.12|NM_145065.3" +HGNC:30010 PELI3 pellino E3 ubiquitin protein ligase family member 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 MGC35521 pellino homolog 3 (Drosophila) Pellino E3 ubiquitin protein ligases 676 2005-08-16 2012-02-23 2023-01-20 246330 ENSG00000174516 OTTHUMG00000167109 uc001oid.5 AL834395 NM_145065 "CCDS31615|CCDS41675|CCDS73328" Q8N2H9 "12874243|15917247" MGI:1924963 RGD:1305989 609827 HGNC:30010 "ENST00000320740.12|NM_145065.3" HGNC:8829 PELO pelota mRNA surveillance and ribosome rescue factor protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "pelota (Drosophila) homolog|pelota homolog (Drosophila)" 2000-05-31 2017-06-06 2023-01-20 53918 ENSG00000152684 OTTHUMG00000096973 uc003jos.5 NM_015946 CCDS3956 Q9BRX2 11060452 MGI:2145154 RGD:1359591 605757 HGNC:8829 "ENST00000274311.3|NM_015946.5" HGNC:56263 PELO-AS1 PELO antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 CTD-2288O8.1 Antisense RNAs 1987 2022-07-13 2022-07-13 125775243 ENSG00000248898 XR_001742661 35237300 HGNC:30134 PELP1 proline, glutamate and leucine rich protein 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 MNAR proline, glutamic acid and leucine rich protein 1 "Large ribosomal subunit biogenesis complex|Armadillo like helical domain containing" "1301|1492" 2005-11-22 2008-02-21 2023-01-20 27043 ENSG00000141456 OTTHUMG00000177831 uc002fyi.6 NM_014389 "CCDS62038|CCDS58503" Q8IZL8 "11481323|12682072|26997260" MGI:1922523 RGD:1306320 609455 HGNC:30134 "ENST00000572293.7|NM_014389.3" HGNC:55614 PELP1-DT PELP1 divergent transcript non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Divergent transcripts 1990 2021-06-14 2021-06-14 101559451 ENSG00000244184 NR_103482 -HGNC:8830 PEMT phosphatidylethanolamine N-methyltransferase protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "PEMPT|PEMT2" Methyltransferase families 1398 1999-12-15 2023-01-20 10400 ENSG00000133027 OTTHUMG00000059290 uc002grl.5 AF176806 NM_007169 "CCDS11187|CCDS58520|CCDS11186" Q9UBM1 "9989271|17881348" MGI:104535 RGD:3297 602391 470852 2.1.1.17 HGNC:8830 "ENST00000255389.10|NM_148172.3" +HGNC:8830 PEMT phosphatidylethanolamine N-methyltransferase protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "PEMPT|PEMT2" Methyltransferase families 1398 1999-12-15 2023-01-20 10400 ENSG00000133027 OTTHUMG00000059290 uc002grl.5 AF176806 NM_007169 "CCDS11186|CCDS58520|CCDS11187" Q9UBM1 "9989271|17881348" MGI:104535 RGD:3297 602391 470852 2.1.1.17 HGNC:8830 "ENST00000255389.10|NM_148172.3" HGNC:8831 PENK proenkephalin protein-coding gene gene with protein product Approved 8q12.1 08q12.1 preproenkephalin Neuropeptides 1902 2001-06-22 2023-01-20 5179 ENSG00000181195 OTTHUMG00000164409 uc003xta.4 NM_001135690 CCDS6168 P01210 6281660 MGI:104629 RGD:68946 131330 ligandId:4058 HGNC:8831 "ENST00000451791.7|NM_001135690.3" HGNC:55519 PENK-AS1 PENK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 Antisense RNAs 1987 2021-03-18 2021-03-18 101929415 ENSG00000254254 NR_125813 HGNC:8838 PEPB peptidase B other unknown Approved 12q21 12q21 1986-01-01 2019-06-26 5182 MGI:97540 169900 3.4.11.4 HGNC:8839 PEPC peptidase C other unknown Approved 1q25 01q25 1986-01-01 2019-06-26 5183 "5073691|2673983" 170000 "3.4.13.18|3.4.-.-" -HGNC:8840 PEPD peptidase D protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "prolidase|Xaa-Pro dipeptidase|imidodipeptidase" M24 metallopeptidase family 1442 1986-01-01 2023-01-20 5184 ENSG00000124299 OTTHUMG00000180470 uc002nur.5 BC015027 NM_000285 "CCDS42544|CCDS54244|CCDS54245" P12955 "2925654|1972707" MGI:97542 RGD:1594571 613230 124187 M24.007 objectId:2389 3.4.13.9 HGNC:8840 "ENST00000244137.12|NM_000285.4" HGNC:8840 +HGNC:8840 PEPD peptidase D protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "prolidase|Xaa-Pro dipeptidase|imidodipeptidase" M24 metallopeptidase family 1442 1986-01-01 2023-01-20 5184 ENSG00000124299 OTTHUMG00000180470 uc002nur.5 BC015027 NM_000285 "CCDS42544|CCDS54245|CCDS54244" P12955 "2925654|1972707" MGI:97542 RGD:1594571 613230 124187 M24.007 objectId:2389 3.4.13.9 HGNC:8840 "ENST00000244137.12|NM_000285.4" HGNC:8840 HGNC:8841 PEPE peptidase E other unknown Approved 17 17 1986-01-01 2019-06-26 5185 170200 3.4.11.2 HGNC:8845 PER1 period circadian regulator 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 RIGUI PER "period (Drosophila) homolog 1|period homolog 1 (Drosophila)|period circadian clock 1" "MicroRNA protein coding host genes|PAS domain containing" "1691|2127" 1997-10-21 2017-10-02 2023-01-20 5187 ENSG00000179094 OTTHUMG00000178317 uc002gkd.4 AB002107 NM_002616 CCDS11131 O15534 9323128 MGI:1098283 RGD:727863 PER1 602260 HGNC:8845 "ENST00000317276.9|NM_002616.3" HGNC:8846 PER2 period circadian regulator 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 KIAA0347 "period (Drosophila) homolog 2|period homolog 2 (Drosophila)|period circadian clock 2" PAS domain containing 2127 1999-06-11 2017-10-02 2023-03-15 8864 ENSG00000132326 OTTHUMG00000152884 uc002vyc.4 AB002345 NM_022817 CCDS2528 O15055 "9427249|17218255" MGI:1195265 RGD:61945 603426 167886 HGNC:8846 "ENST00000254657.8|NM_022817.3" HGNC:8846 -HGNC:8847 PER3 period circadian regulator 3 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "period (Drosophila) homolog 3|period homolog 3 (Drosophila)|period circadian clock 3" PAS domain containing 2127 1999-06-11 2017-10-02 2023-01-20 8863 ENSG00000049246 OTTHUMG00000001216 uc057bxs.1 BC026102 NM_016831 "CCDS89|CCDS76097|CCDS72695" P56645 9427249 MGI:1277134 RGD:621581 603427 456799 HGNC:8847 "ENST00000377532.8|NM_001377275.1" HGNC:8847 +HGNC:8847 PER3 period circadian regulator 3 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "period (Drosophila) homolog 3|period homolog 3 (Drosophila)|period circadian clock 3" PAS domain containing 2127 1999-06-11 2017-10-02 2023-01-20 8863 ENSG00000049246 OTTHUMG00000001216 uc057bxs.1 BC026102 NM_016831 "CCDS76097|CCDS72695|CCDS89" P56645 9427249 MGI:1277134 RGD:621581 603427 456799 HGNC:8847 "ENST00000377532.8|NM_001377275.1" HGNC:8847 HGNC:54525 PER3P1 PER3 pseudogene 1 pseudogene pseudogene Approved 7p21.3 07p21.3 PER4 2019-10-11 2019-10-11 168741 ENSG00000271077 NR_002790 11483238 HGNC:54525 HGNC:52293 PERCC1 proline and glutamate rich with coiled coil 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 2019-07-04 2023-01-20 105371045 ENSG00000284395 OTTHUMG00000192124 NM_001365310 CCDS92081 A0A1W2PR82 31217582 MGI:5621540 RGD:9344254 618656 HGNC:52293 "ENST00000640283.2|NM_001365310.2" HGNC:28208 PERM1 PPARGC1 and ESRR induced regulator, muscle 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "MGC13275|RP11-54O7.8" PGC-1- and ERR-induced regulator in muscle 1 C1orf170 chromosome 1 open reading frame 170 2005-07-20 2014-01-15 2014-01-15 2023-01-20 84808 ENSG00000187642 OTTHUMG00000040757 AK123855 NM_001291366 "CCDS76083|CCDS90836" Q5SV97 23836911 MGI:1921433 RGD:1304931 615921 HGNC:28208 "ENST00000433179.4|NM_001394713.1" HGNC:17637 PERP p53 apoptosis effector related to PMP22 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "PIGPC1|dJ496H19.1|KCP1|THW|KRTCAP1" keratinocyte associated protein 1 PERP, TP53 apoptosis effector 2003-11-19 2019-01-31 2023-01-20 64065 ENSG00000112378 OTTHUMG00000015668 uc003qht.3 AF317550 NM_022121 CCDS5188 Q96FX8 11062687 MGI:1929938 RGD:1310294 609301 HGNC:17637 "ENST00000421351.4|NM_022121.5" HGNC:17637 HGNC:56619 PERPP1 PERP pseudogene 1 pseudogene pseudogene Approved 3q28 03q28 2022-11-09 2022-11-09 127566428 ENSG00000237653 PGOHUM00000299309 HGNC:56620 PERPP2 PERP pseudogene 2 pseudogene pseudogene Approved 15q26.1 15q26.1 2022-11-09 2022-11-09 124903553 ENSG00000228998 XR_007064755 -HGNC:8848 PES1 pescadillo ribosomal biogenesis factor 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "PES|NOP7" "pescadillo (zebrafish) homolog 1, containing BRCT domain|pescadillo homolog 1, containing BRCT domain (zebrafish)" PeBoW complex 1732 1999-10-19 2012-02-23 2023-01-20 23481 ENSG00000100029 OTTHUMG00000151077 uc003aij.2 U78310 NM_014303 "CCDS13880|CCDS74842|CCDS58802" O00541 "8985183|10591208|17353269" MGI:1890613 RGD:1559814 605819 470854 HGNC:8848 "ENST00000354694.12|NM_014303.4" +HGNC:8848 PES1 pescadillo ribosomal biogenesis factor 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "PES|NOP7" "pescadillo (zebrafish) homolog 1, containing BRCT domain|pescadillo homolog 1, containing BRCT domain (zebrafish)" PeBoW complex 1732 1999-10-19 2012-02-23 2023-01-20 23481 ENSG00000100029 OTTHUMG00000151077 uc003aij.2 U78310 NM_014303 "CCDS58802|CCDS13880|CCDS74842" O00541 "8985183|10591208|17353269" MGI:1890613 RGD:1559814 605819 470854 HGNC:8848 "ENST00000354694.12|NM_014303.4" HGNC:44058 PES1P1 pescadillo ribosomal biogenesis factor 1 pseudogene 1 pseudogene pseudogene Approved 4q28.3 04q28.3 2012-05-30 2014-11-19 345016 ENSG00000248191 OTTHUMG00000161470 NG_022080 PGOHUM00000246083 HGNC:44058 HGNC:44059 PES1P2 pescadillo ribosomal biogenesis factor 1 pseudogene 2 pseudogene pseudogene Approved 9p23 09p23 RP11-284P20.2 2012-05-30 2020-02-28 347193 ENSG00000229268 OTTHUMG00000019565 NG_021640 PGOHUM00000236388 HGNC:44059 HGNC:40038 PET100 PET100 cytochrome c oxidase chaperone protein-coding gene gene with protein product Approved 19p13.2 19p13.2 C19orf79 "chromosome 19 open reading frame 79|PET100 homolog (S. cerevisiae)|PET100 homolog" Mitochondrial respiratory chain complex assembly factors 645 2011-07-06 2012-06-25 2019-03-12 2023-01-20 100131801 ENSG00000229833 uc010dvi.3 NM_001171155 CCDS54208 P0DJ07 "22356826|24462369|28199844" MGI:3615306 RGD:1585222 614770 396650 HGNC:40038 "ENST00000594797.6|NM_001171155.2" HGNC:40038 HGNC:56612 PET100P1 PET100 pseudogene 1 pseudogene pseudogene Approved 3q27.3 03q27.3 2022-11-04 2022-11-04 100287402 ENSG00000283390 NG_027547 HGNC:40045 PET117 PET117 cytochrome c oxidase chaperone protein-coding gene gene with protein product Approved 20p11.23 20p11.23 CSRP2BP "PET117 homolog (S. cerevisiae)|PET117 homolog" Mitochondrial respiratory chain complex assembly factors 645 2012-02-23 2019-03-12 2023-01-20 100303755 ENSG00000232838 OTTHUMG00000186019 uc021wba.2 NM_001164811 CCDS54450 Q6UWS5 28199844 MGI:5295678 614771 HGNC:40045 "ENST00000432901.4|NM_001164811.2" HGNC:40045 HGNC:56829 PET117P1 PET117 pseudogene 1 pseudogene pseudogene Approved 7q21.13 07q21.13 2023-05-05 2023-05-05 100128464 NG_030053 PGOHUM00000302341 -HGNC:8850 PEX1 peroxisomal biogenesis factor 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "ZWS1|ZWS" "peroxisome biogenesis factor 1|Zellweger syndrome 1|Zellweger syndrome" "AAA ATPases|Peroxins" "413|957" 1998-01-08 2008-08-26 2023-01-20 5189 ENSG00000127980 OTTHUMG00000023926 uc003uly.4 AF026086 NM_000466 "CCDS5627|CCDS64710" O43933 9398848 MGI:1918632 RGD:1559939 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX1 602136 124189 HGNC:8850 "ENST00000248633.9|NM_000466.3" HGNC:8850 +HGNC:8850 PEX1 peroxisomal biogenesis factor 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "ZWS1|ZWS" "peroxisome biogenesis factor 1|Zellweger syndrome 1|Zellweger syndrome" "AAA ATPases|Peroxins" "413|957" 1998-01-08 2008-08-26 2023-01-20 5189 ENSG00000127980 OTTHUMG00000023926 uc003uly.4 AF026086 NM_000466 "CCDS64710|CCDS5627" O43933 9398848 MGI:1918632 RGD:1559939 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX1 602136 124189 HGNC:8850 "ENST00000248633.9|NM_000466.3" HGNC:8850 HGNC:9717 PEX2 peroxisomal biogenesis factor 2 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "PMP35|PAF-1|RNF72|ZWS3" "Zellweger syndrome|peroxin 2" PXMP3 "peroxisomal membrane protein 3 (35kD, Zellweger syndrome)|peroxisomal membrane protein 3, 35kDa" "Ring finger proteins|Peroxins" "58|957" 1992-03-03 2010-01-25 2010-01-25 2023-01-20 5828 ENSG00000164751 OTTHUMG00000164530 uc003yax.4 M86852 NM_000318 CCDS6221 P28328 "1546315|8858157" MGI:107486 RGD:61814 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX2 170993 118174 HGNC:9717 "ENST00000357039.9|NM_000318.3" HGNC:9717 HGNC:8858 PEX3 peroxisomal biogenesis factor 3 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 Peroxins 957 1998-10-21 2023-01-20 8504 ENSG00000034693 OTTHUMG00000015730 uc003qjl.4 AJ001625 NM_003630 CCDS5199 P56589 9657383 MGI:1929646 RGD:621636 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX3 603164 124209 HGNC:8858 "ENST00000367591.5|NM_003630.3" HGNC:8858 -HGNC:9719 PEX5 peroxisomal biogenesis factor 5 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 PTS1R "peroxisomal targeting signal 1 receptor|peroxisomal import receptor 5" PXR1 peroxisome receptor 1 "Tetratricopeptide repeat domain containing|Peroxins" "769|957" 1994-12-13 2004-03-19 2004-03-17 2023-01-20 5830 ENSG00000139197 OTTHUMG00000168175 uc009zfu.3 U19721 NM_000319 "CCDS8576|CCDS44824|CCDS44823|CCDS44822" P50542 MGI:1098808 RGD:1307612 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX5 600414 124211 HGNC:9719 "ENST00000675855.1|NM_001351132.2" HGNC:9719 -HGNC:30024 PEX5L peroxisomal biogenesis factor 5 like protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "PEX5R|PXR2|TRIP8b" HCN channel auxiliary subunit Tetratricopeptide repeat domain containing 769 2004-07-26 2016-06-29 2023-01-20 51555 ENSG00000114757 OTTHUMG00000157363 uc003fki.3 AJ245503 NM_016559 "CCDS58863|CCDS3236|CCDS58866|CCDS58862|CCDS58867|CCDS58861|CCDS58864|CCDS58865" Q8IYB4 "11463335|19555650" MGI:1916672 RGD:708407 611058 470860 HGNC:30024 "ENST00000467460.6|NM_016559.3" +HGNC:9719 PEX5 peroxisomal biogenesis factor 5 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 PTS1R "peroxisomal targeting signal 1 receptor|peroxisomal import receptor 5" PXR1 peroxisome receptor 1 "Tetratricopeptide repeat domain containing|Peroxins" "769|957" 1994-12-13 2004-03-19 2004-03-17 2023-01-20 5830 ENSG00000139197 OTTHUMG00000168175 uc009zfu.3 U19721 NM_000319 "CCDS44823|CCDS44824|CCDS44822|CCDS8576" P50542 MGI:1098808 RGD:1307612 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX5 600414 124211 HGNC:9719 "ENST00000675855.1|NM_001351132.2" HGNC:9719 +HGNC:30024 PEX5L peroxisomal biogenesis factor 5 like protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "PEX5R|PXR2|TRIP8b" HCN channel auxiliary subunit Tetratricopeptide repeat domain containing 769 2004-07-26 2016-06-29 2023-01-20 51555 ENSG00000114757 OTTHUMG00000157363 uc003fki.3 AJ245503 NM_016559 "CCDS58863|CCDS58861|CCDS3236|CCDS58864|CCDS58867|CCDS58862|CCDS58865|CCDS58866" Q8IYB4 "11463335|19555650" MGI:1916672 RGD:708407 611058 470860 HGNC:30024 "ENST00000467460.6|NM_016559.3" HGNC:41251 PEX5L-AS1 PEX5L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 PEX5L antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2015-08-07 100874040 ENSG00000243799 OTTHUMG00000157362 uc062qgp.1 PEX5L-AS1 HGNC:41252 PEX5L-AS2 PEX5L antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 PEX5L antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2015-08-07 101928790 ENSG00000244302 OTTHUMG00000157364 uc032slf.2 NR_110059 PEX5L-AS2 HGNC:41252 HGNC:8859 PEX6 peroxisomal biogenesis factor 6 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "PXAAA1|PAF-2" "AAA ATPases|Peroxins" "413|957" 1997-05-22 2023-01-20 5190 ENSG00000124587 OTTHUMG00000014713 uc003otf.4 U56602 NM_000287 CCDS4877 Q13608 8670792 MGI:2385054 RGD:621637 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX6 601498 124215 HGNC:8859 "ENST00000304611.13|NM_000287.4" HGNC:8859 HGNC:8860 PEX7 peroxisomal biogenesis factor 7 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "PTS2R|RD" Refsum disease "WD repeat domain containing|Peroxins" "362|957" 1997-05-22 2023-01-20 5191 ENSG00000112357 OTTHUMG00000015650 uc003qhd.4 AF180814 NM_000288 "CCDS94011|CCDS5180" O00628 "9090381|10673331" MGI:1321392 RGD:1308483 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX7 601757 124219 HGNC:8860 "ENST00000318471.5|NM_000288.4" HGNC:8860 -HGNC:8851 PEX10 peroxisomal biogenesis factor 10 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 RNF69 peroxisome biogenesis factor 10 "Ring finger proteins|Peroxins" "58|957" 1998-08-05 2008-08-26 2023-01-20 5192 ENSG00000157911 OTTHUMG00000001637 uc001ajh.4 AF060502 NM_153818 "CCDS44045|CCDS41" O60683 9683594 MGI:2684988 RGD:1591776 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX10 602859 124191 HGNC:8851 "ENST00000447513.7|NM_002617.4" HGNC:8851 -HGNC:8852 PEX11A peroxisomal biogenesis factor 11 alpha protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "PEX11alpha|PEX11α|PMP28|MGC119947|MGC138534" "Peroxisomal membrane protein 11A|Peroxin-11A|peroxisomal integral membrane protein 28-kDa" peroxisomal biogenesis factor 11A Peroxins 957 1998-11-11 2008-08-26 2023-01-20 8800 ENSG00000166821 OTTHUMG00000149809 uc002boi.5 AF093668 NM_003847 "CCDS10354|CCDS61751" O75192 9792670 MGI:1338788 RGD:619842 603866 470856 HGNC:8852 "ENST00000300056.8|NM_003847.3" HGNC:8852 +HGNC:8851 PEX10 peroxisomal biogenesis factor 10 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 RNF69 peroxisome biogenesis factor 10 "Ring finger proteins|Peroxins" "58|957" 1998-08-05 2008-08-26 2023-01-20 5192 ENSG00000157911 OTTHUMG00000001637 uc001ajh.4 AF060502 NM_153818 "CCDS41|CCDS44045" O60683 9683594 MGI:2684988 RGD:1591776 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX10 602859 124191 HGNC:8851 "ENST00000447513.7|NM_002617.4" HGNC:8851 +HGNC:8852 PEX11A peroxisomal biogenesis factor 11 alpha protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "PEX11alpha|PEX11α|PMP28|MGC119947|MGC138534" "Peroxisomal membrane protein 11A|Peroxin-11A|peroxisomal integral membrane protein 28-kDa" peroxisomal biogenesis factor 11A Peroxins 957 1998-11-11 2008-08-26 2023-01-20 8800 ENSG00000166821 OTTHUMG00000149809 uc002boi.5 AF093668 NM_003847 "CCDS61751|CCDS10354" O75192 9792670 MGI:1338788 RGD:619842 603866 470856 HGNC:8852 "ENST00000300056.8|NM_003847.3" HGNC:8852 HGNC:8853 PEX11B peroxisomal biogenesis factor 11 beta protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "PEX11beta|PEX11β" Peroxisomal membrane protein 11B peroxisomal biogenesis factor 11B Peroxins 957 1998-11-11 2008-08-26 2023-01-20 8799 ENSG00000131779 OTTHUMG00000013756 uc001eny.3 AF093670 NM_003846 "CCDS72870|CCDS72871" O96011 9792670 MGI:1338882 RGD:1310353 603867 317370 HGNC:8853 "ENST00000369306.8|NM_003846.3" HGNC:8853 HGNC:20208 PEX11G peroxisomal biogenesis factor 11 gamma protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "PEX11gamma|PEX11γ" Peroxisomal membrane protein 11G Peroxins 957 2003-07-14 2023-01-20 92960 ENSG00000104883 OTTHUMG00000182044 uc002mgk.3 BC008780 NM_080662 "CCDS12178|CCDS77227" Q96HA9 12417726 MGI:1920905 RGD:1307070 607583 470858 HGNC:20208 "ENST00000221480.6|NM_080662.4" HGNC:20208 HGNC:8854 PEX12 peroxisomal biogenesis factor 12 protein-coding gene gene with protein product Approved 17q12 17q12 Peroxins 957 1997-05-22 2023-01-20 5193 ENSG00000108733 OTTHUMG00000132951 uc060ech.1 U91521 NM_000286 CCDS11296 O00623 9090384 MGI:2144177 RGD:620757 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX12 601758 124194 HGNC:8854 "ENST00000225873.9|NM_000286.3" HGNC:8854 @@ -25247,13 +25249,13 @@ HGNC:8867 PFDN2 prefoldin subunit 2 protein-coding gene gene with protein produc HGNC:8868 PFDN4 prefoldin subunit 4 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "PFD4|C-1|C1" prefoldin 4 Prefoldin subunits 956 1998-08-06 2006-02-24 2023-01-20 5203 ENSG00000101132 OTTHUMG00000032775 uc002xwx.4 U41816 NM_002623 CCDS13445 Q9NQP4 "9630229|8744932" MGI:1923512 RGD:2324021 604898 HGNC:8868 "ENST00000371419.7|NM_002623.4" HGNC:8869 PFDN5 prefoldin subunit 5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "PFD5|MM-1" prefoldin 5 Prefoldin subunits 956 1998-08-06 2006-02-24 2023-03-15 5204 ENSG00000123349 OTTHUMG00000169675 uc001scl.5 D89667 NM_002624 "CCDS8853|CCDS8854" Q99471 "9630229|9792694" MGI:1928753 RGD:1311436 604899 HGNC:8869 "ENST00000334478.9|NM_002624.4" HGNC:4926 PFDN6 prefoldin subunit 6 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "KE-2|H2-KE2|PFD6" HKE2 "HLA class II region expressed gene KE2|prefoldin 6" "Prefoldin subunits|MicroRNA protein coding host genes" "956|1691" 2000-06-26 2006-02-24 2006-02-24 2023-01-20 10471 ENSG00000204220 OTTHUMG00000031247 uc010jup.3 BC039033 NM_014260 CCDS4773 O15212 "9545376|9630229" MGI:95908 RGD:1303006 605660 HGNC:4926 "ENST00000374606.10|NM_001185181.3" -HGNC:8872 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 PFRX 6-phosphofructo-2-kinases/fructose-2,6-biphosphatases 1077 1990-09-10 2023-01-20 5207 ENSG00000158571 OTTHUMG00000021643 uc004dty.3 NM_001271804 "CCDS14364|CCDS65273" P16118 9119406 MGI:107816 RGD:3307 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PFKFB1 311790 "2.7.1.105|3.1.3.46" HGNC:8872 "ENST00000375006.8|NM_002625.4" -HGNC:8873 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 6-phosphofructo-2-kinases/fructose-2,6-biphosphatases 1077 1991-05-09 2023-01-20 5208 ENSG00000123836 OTTHUMG00000036033 uc001hfg.4 NM_001018053 "CCDS31004|CCDS31003" O60825 MGI:107815 RGD:3309 171835 "2.7.1.105|3.1.3.46" HGNC:8873 "ENST00000367080.8|NM_006212.2" -HGNC:8874 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "6-phosphofructo-2-kinases/fructose-2,6-biphosphatases|MicroRNA protein coding host genes" "1077|1691" 1997-01-29 2023-01-20 5209 ENSG00000170525 OTTHUMG00000017621 uc057rmz.1 NM_004566 "CCDS44353|CCDS60479|CCDS7078|CCDS81439|CCDS86068" Q16875 "9146922|10072580|22275052" MGI:2181202 RGD:619776 605319 objectId:2937 "2.7.1.105|3.1.3.46" HGNC:8874 "ENST00000379775.9|NM_004566.4" -HGNC:8875 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "6-phosphofructo-2-kinases/fructose-2,6-biphosphatases|MicroRNA protein coding host genes" "1077|1691" 1998-06-04 2023-01-20 5210 ENSG00000114268 OTTHUMG00000133528 uc003ctv.4 BC010269 NM_004567 "CCDS2771|CCDS82769|CCDS82770" Q16877 "8830046|10095107|25115398" MGI:2687284 RGD:3310 605320 "2.7.1.105|3.1.3.46" HGNC:8875 "ENST00000232375.8|NM_004567.4" +HGNC:8872 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 PFRX 6-phosphofructo-2-kinases/fructose-2,6-biphosphatases 1077 1990-09-10 2023-01-20 5207 ENSG00000158571 OTTHUMG00000021643 uc004dty.3 NM_001271804 "CCDS65273|CCDS14364" P16118 9119406 MGI:107816 RGD:3307 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PFKFB1 311790 "2.7.1.105|3.1.3.46" HGNC:8872 "ENST00000375006.8|NM_002625.4" +HGNC:8873 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 6-phosphofructo-2-kinases/fructose-2,6-biphosphatases 1077 1991-05-09 2023-01-20 5208 ENSG00000123836 OTTHUMG00000036033 uc001hfg.4 NM_001018053 "CCDS31003|CCDS31004" O60825 MGI:107815 RGD:3309 171835 "2.7.1.105|3.1.3.46" HGNC:8873 "ENST00000367080.8|NM_006212.2" +HGNC:8874 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "6-phosphofructo-2-kinases/fructose-2,6-biphosphatases|MicroRNA protein coding host genes" "1077|1691" 1997-01-29 2023-01-20 5209 ENSG00000170525 OTTHUMG00000017621 uc057rmz.1 NM_004566 "CCDS44353|CCDS81439|CCDS7078|CCDS60479|CCDS86068" Q16875 "9146922|10072580|22275052" MGI:2181202 RGD:619776 605319 objectId:2937 "2.7.1.105|3.1.3.46" HGNC:8874 "ENST00000379775.9|NM_004566.4" +HGNC:8875 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "6-phosphofructo-2-kinases/fructose-2,6-biphosphatases|MicroRNA protein coding host genes" "1077|1691" 1998-06-04 2023-01-20 5210 ENSG00000114268 OTTHUMG00000133528 uc003ctv.4 BC010269 NM_004567 "CCDS2771|CCDS82770|CCDS82769" Q16877 "8830046|10095107|25115398" MGI:2687284 RGD:3310 605320 "2.7.1.105|3.1.3.46" HGNC:8875 "ENST00000232375.8|NM_004567.4" HGNC:8876 PFKL phosphofructokinase, liver type protein-coding gene gene with protein product Approved 21q22.3 21q22.3 1986-01-01 2016-02-10 2023-03-15 5211 ENSG00000141959 OTTHUMG00000086910 uc002zel.4 NM_001002021 CCDS33582 P17858 MGI:97547 RGD:3311 171860 2.7.1.11 HGNC:8876 "ENST00000349048.9|NM_002626.6" -HGNC:8877 PFKM phosphofructokinase, muscle protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "PFK-1|PPP1R122" protein phosphatase 1, regulatory subunit 122 PFKX phosphofructokinase, polypeptide X "Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "694|1691" 1986-01-01 2023-01-20 5213 ENSG00000152556 OTTHUMG00000169898 uc001rrc.4 M26066 NM_000289 "CCDS86294|CCDS53786|CCDS86295|CCDS8760" P08237 MGI:97548 RGD:68419 LRG_1177|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1177.xml 610681 124223 2.7.1.11 HGNC:8877 "ENST00000359794.11|NM_000289.6" HGNC:8877 -HGNC:8878 PFKP phosphofructokinase, platelet protein-coding gene gene with protein product Approved 10p15.2 10p15.2 "PFK-C|PFKF" Phosphofructokinase, platelet type 1986-01-01 2023-03-15 5214 ENSG00000067057 OTTHUMG00000017556 uc001igp.4 AK092597 NM_002627 "CCDS91203|CCDS7059|CCDS91202|CCDS91204" Q01813 MGI:1891833 RGD:61893 171840 2.7.1.11 HGNC:8878 "ENST00000381125.9|NM_002627.5" +HGNC:8877 PFKM phosphofructokinase, muscle protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "PFK-1|PPP1R122" protein phosphatase 1, regulatory subunit 122 PFKX phosphofructokinase, polypeptide X "Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "694|1691" 1986-01-01 2023-01-20 5213 ENSG00000152556 OTTHUMG00000169898 uc001rrc.4 M26066 NM_000289 "CCDS8760|CCDS53786|CCDS86294|CCDS86295" P08237 MGI:97548 RGD:68419 LRG_1177|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1177.xml 610681 124223 2.7.1.11 HGNC:8877 "ENST00000359794.11|NM_000289.6" HGNC:8877 +HGNC:8878 PFKP phosphofructokinase, platelet protein-coding gene gene with protein product Approved 10p15.2 10p15.2 "PFK-C|PFKF" Phosphofructokinase, platelet type 1986-01-01 2023-03-15 5214 ENSG00000067057 OTTHUMG00000017556 uc001igp.4 AK092597 NM_002627 "CCDS91202|CCDS91203|CCDS7059|CCDS91204" Q01813 MGI:1891833 RGD:61893 171840 2.7.1.11 HGNC:8878 "ENST00000381125.9|NM_002627.5" HGNC:55177 PFKP-DT PFKP divergent transcript non-coding RNA RNA, long non-coding Approved 10p15.2 10p15.2 Divergent transcripts 1990 2020-08-06 2020-08-06 101927824 ENSG00000273001 NR_160681 HGNC:8881 PFN1 profilin 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 Profilins 1827 1988-08-15 2023-01-20 5216 ENSG00000108518 OTTHUMG00000099396 uc002gaa.5 BC057828 NM_005022 CCDS11061 P07737 "3356709|1968707" MGI:97549 RGD:621825 176610 310425 HGNC:8881 "ENST00000225655.6|NM_005022.4" HGNC:8881 HGNC:42989 PFN1P1 profilin 1 pseudogene 1 pseudogene pseudogene Approved 1q24.3 01q24.3 2011-09-16 2015-03-05 730138 ENSG00000233328 OTTHUMG00000034791 NG_005764 PGOHUM00000295953 HGNC:42989 @@ -25293,11 +25295,11 @@ HGNC:16557 PGAM3P phosphoglycerate mutase 3, pseudogene pseudogene pseudogene Ap HGNC:21731 PGAM4 phosphoglycerate mutase family member 4 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "dJ1000K24.1|PGAM3|PGAM-B|PGAM1" phosphoglycerate mutase family 4 "Phosphoglycerate mutases|Bisphosphoglycerate phosphatases" "1078|1082" 2005-04-29 2006-02-09 2023-01-20 441531 ENSG00000226784 OTTHUMG00000057865 uc004ecy.2 AF465731 NM_001029891 CCDS35338 Q8N0Y7 "11961099|9370262" MGI:97552 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PGAM4 300567 470866 HGNC:21731 "ENST00000458128.3|NM_001029891.3" HGNC:42465 PGAM4P1 phosphoglycerate mutase family member 4 pseudogene 1 pseudogene pseudogene Approved Xp11.22 Xp11.22 2011-07-28 2014-11-19 100421178 ENSG00000215197 OTTHUMG00000021630 NG_026840 PGOHUM00000241790 HGNC:42465 HGNC:42466 PGAM4P2 phosphoglycerate mutase family member 4 pseudogene 2 pseudogene pseudogene Approved 4q26 04q26 2011-07-28 2014-11-18 100131611 ENSG00000248488 OTTHUMG00000160123 NG_022028 PGOHUM00000245664 HGNC:42466 -HGNC:28763 PGAM5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "MGC5352|BXLBv68" "phosphoglycerate mutase family member 5|PGAM family member 5, serine/threonine protein phosphatase, mitochondrial" "Serine/threonine phosphatases|Phosphoglycerate mutases" "814|1078" 2006-02-09 2016-03-10 2023-01-20 192111 ENSG00000247077 OTTHUMG00000168021 uc009zyv.4 BC008196 NM_138575 "CCDS53845|CCDS9280|CCDS91784" Q96HS1 "11283018|19590015" MGI:1919792 RGD:1312028 614939 HGNC:28763 "ENST00000498926.7|NM_001170543.2" +HGNC:28763 PGAM5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "MGC5352|BXLBv68" "phosphoglycerate mutase family member 5|PGAM family member 5, serine/threonine protein phosphatase, mitochondrial" "Serine/threonine phosphatases|Phosphoglycerate mutases" "814|1078" 2006-02-09 2016-03-10 2023-01-20 192111 ENSG00000247077 OTTHUMG00000168021 uc009zyv.4 BC008196 NM_138575 "CCDS91784|CCDS9280|CCDS53845" Q96HS1 "11283018|19590015" MGI:1919792 RGD:1312028 614939 HGNC:28763 "ENST00000498926.7|NM_001170543.2" HGNC:42467 PGAM5P1 PGAM family member 5, mitochondrial serine/threonine protein phosphatase pseudogene 1 pseudogene pseudogene Approved 5q21.3 05q21.3 phosphoglycerate mutase family member 5 pseudogene 1 2011-07-28 2016-03-10 2016-03-10 100421133 ENSG00000253224 OTTHUMG00000163575 NG_024616 PGOHUM00000235351 HGNC:42467 HGNC:25712 PGAP1 post-GPI attachment to proteins inositol deacylase 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "FLJ12377|Bst1|SPG67" GPI inositol-deacylase post-GPI attachment to proteins 1 2008-02-26 2019-08-30 2023-01-20 80055 ENSG00000197121 OTTHUMG00000132743 uc002utw.4 NM_024989 CCDS2318 Q75T13 "14734546|17711852|24482476" MGI:2443342 RGD:1303213 611655 403377 HGNC:25712 "ENST00000354764.9|NM_024989.4" HGNC:25712 -HGNC:17893 PGAP2 post-GPI attachment to proteins 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FRAG1|CWH43-N" "FGF receptor activating protein 1|cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)" "MRT21|MRT17" "mental retardation, non-syndromic, autosomal recessive, 21|mental retardation, non-syndromic, autosomal recessive, 17" 2009-06-18 2023-03-15 27315 ENSG00000148985 OTTHUMG00000012238 uc057ydq.1 AF159615 NM_001145438 "CCDS58113|CCDS58112|CCDS44523|CCDS86171|CCDS86172|CCDS73244|CCDS73245|CCDS7747" Q9UHJ9 "10585768|16407401|23561846" MGI:2385286 RGD:619744 615187 331952 HGNC:17893 "ENST00000278243.9|NM_014489.4" HGNC:17893 -HGNC:23719 PGAP3 post-GPI attachment to proteins phospholipase 3 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC9753|CAB2|PP1498|PER1" post-GPI attachment to proteins 3 PERLD1 "per1-like domain containing 1|post-GPI attachment to proteins 3" 2004-04-30 2009-06-02 2019-08-30 2023-01-20 93210 ENSG00000161395 OTTHUMG00000179110 uc002hsj.4 AB088396 NM_033419 "CCDS77013|CCDS77014|CCDS32641|CCDS77015" Q96FM1 "15010812|17021251|17314402" MGI:2444461 RGD:1592386 611801 395056 HGNC:23719 "ENST00000300658.9|NM_033419.5" HGNC:23719 +HGNC:17893 PGAP2 post-GPI attachment to proteins 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FRAG1|CWH43-N" "FGF receptor activating protein 1|cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)" "MRT21|MRT17" "mental retardation, non-syndromic, autosomal recessive, 21|mental retardation, non-syndromic, autosomal recessive, 17" 2009-06-18 2023-03-15 27315 ENSG00000148985 OTTHUMG00000012238 uc057ydq.1 AF159615 NM_001145438 "CCDS44523|CCDS73245|CCDS58112|CCDS58113|CCDS86172|CCDS86171|CCDS7747|CCDS73244" Q9UHJ9 "10585768|16407401|23561846" MGI:2385286 RGD:619744 615187 331952 HGNC:17893 "ENST00000278243.9|NM_014489.4" HGNC:17893 +HGNC:23719 PGAP3 post-GPI attachment to proteins phospholipase 3 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC9753|CAB2|PP1498|PER1" post-GPI attachment to proteins 3 PERLD1 "per1-like domain containing 1|post-GPI attachment to proteins 3" 2004-04-30 2009-06-02 2019-08-30 2023-01-20 93210 ENSG00000161395 OTTHUMG00000179110 uc002hsj.4 AB088396 NM_033419 "CCDS77015|CCDS32641|CCDS77013|CCDS77014" Q96FM1 "15010812|17021251|17314402" MGI:2444461 RGD:1592386 611801 395056 HGNC:23719 "ENST00000300658.9|NM_033419.5" HGNC:23719 HGNC:28180 PGAP4 post-GPI attachment to proteins GalNAc transferase 4 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 MGC12992 "C9orf125|TMEM246" "chromosome 9 open reading frame 125|transmembrane protein 246" 2004-04-15 2019-08-30 2019-08-30 2023-01-20 84302 ENSG00000165152 OTTHUMG00000020381 uc064uvq.1 BC006115 NM_032342 CCDS6757 Q9BRR3 29374258 MGI:1914313 RGD:1307218 620264 HGNC:28180 "ENST00000374848.8|NM_032342.3" HGNC:17205 PGAP6 post-GPI attachment to proteins 6 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 M83 "TMEM6|TMEM8|TMEM8A" "transmembrane protein 6|transmembrane protein 8 (five membrane-spanning domains)|transmembrane protein 8A|post-glycosylphosphatidylinositol attachment to proteins 6" TMEM8 family 1957 2001-11-30 2019-09-05 2022-02-24 2023-01-20 58986 ENSG00000129925 OTTHUMG00000047996 uc002cgu.5 AB045292 NM_021259 CCDS10407 Q9HCN3 "11006113|27881714" MGI:1926283 RGD:1311395 619342 HGNC:17205 "ENST00000431232.7|NM_021259.3" HGNC:19398 PGBD1 piggyBac transposable element derived 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "HUCEP-4|dJ874C20.4|SCAND4" "Scavenger receptor cysteine rich domain containing|DNA transposon derived genes" "1404|1415" 2002-10-23 2023-01-20 84547 ENSG00000137338 OTTHUMG00000014520 uc003nkz.4 D88259 NM_001184743 CCDS4648 Q96JS3 MGI:2441675 RGD:9394854 HGNC:19398 "ENST00000682144.1|NM_032507.4" @@ -25322,7 +25324,7 @@ HGNC:8890 PGC progastricsin protein-coding gene gene with protein product Approv HGNC:8891 PGD phosphogluconate dehydrogenase protein-coding gene gene with protein product Approved 1p36.22 01p36.22 2001-06-22 2023-01-20 5226 ENSG00000142657 OTTHUMG00000001905 uc001arc.4 BC000368 NM_002631 CCDS113 P52209 MGI:97553 RGD:1583832 172200 470868 1.1.1.43 HGNC:8891 "ENST00000270776.13|NM_002631.4" HGNC:8892 PGDP1 phosphogluconate dehydrogenase pseudogene 1 pseudogene pseudogene Approved 18q12.1 18q12.1 PGDL1 phosphogluconate dehydrogenase-like 1 1989-05-25 2010-10-21 2010-10-21 2020-04-20 342705 ENSG00000265273 OTTHUMG00000179618 NG_022489 PGOHUM00000294762 HGNC:8892 HGNC:39144 PGDP2 phosphogluconate dehydrogenase pseudogene 2 pseudogene pseudogene Approved 12q21.2 12q21.2 2010-10-21 2010-10-21 100129649 NG_021727 PGOHUM00000239859 HGNC:39144 -HGNC:8893 PGF placental growth factor protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "PlGF-2|SHGC-10760|D12S1900|PIGF|PLGF|PlGF" placenta growth factor PGFL "placental growth factor-like|placental growth factor, vascular endothelial growth factor-related protein" VEGF family 1267 1994-01-14 2008-03-20 2023-01-20 5228 ENSG00000119630 OTTHUMG00000171496 uc001xqz.4 S72960 NM_002632 "CCDS9835|CCDS55932|CCDS73664" P49763 7681160 MGI:105095 RGD:619850 601121 ligandId:5314 HGNC:8893 "ENST00000555567.6|NM_002632.6" +HGNC:8893 PGF placental growth factor protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "PlGF-2|SHGC-10760|D12S1900|PIGF|PLGF|PlGF" placenta growth factor PGFL "placental growth factor-like|placental growth factor, vascular endothelial growth factor-related protein" VEGF family 1267 1994-01-14 2008-03-20 2023-01-20 5228 ENSG00000119630 OTTHUMG00000171496 uc001xqz.4 S72960 NM_002632 "CCDS55932|CCDS9835|CCDS73664" P49763 7681160 MGI:105095 RGD:619850 601121 ligandId:5314 HGNC:8893 "ENST00000555567.6|NM_002632.6" HGNC:26210 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase protein-coding gene gene with protein product Approved 11p15.5 11p15.5 FLJ22635 ATHL1 ATH1, acid trehalase-like 1 (yeast) Glycoside hydrolases 1650 2005-10-27 2016-06-14 2016-06-14 2023-01-20 80162 ENSG00000142102 OTTHUMG00000153218 uc010qvu.3 AK090428 NM_025092 CCDS31322 Q32M88 26682924 MGI:2444047 RGD:1306015 617032 3.2.1.107 HGNC:26210 "ENST00000409548.7|NM_025092.5" HGNC:8895 PGGT1B protein geranylgeranyltransferase type I subunit beta protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "GGTI|BGGI" protein geranylgeranyltransferase type I, beta subunit 1997-07-25 2016-01-27 2023-01-20 5229 ENSG00000164219 OTTHUMG00000128893 uc003kqw.5 NM_005023 CCDS4116 P53609 8106351 MGI:1917514 RGD:621754 602031 HGNC:8895 "ENST00000419445.6|NM_005023.4" HGNC:45024 PGGT1BP1 protein geranylgeranyltransferase type I subunit beta pseudogene 1 pseudogene pseudogene Approved 10q11.23 10q11.23 2013-01-08 2016-06-14 2016-06-14 653895 ENSG00000213667 OTTHUMG00000018233 NG_028750 PGOHUM00000238491 HGNC:45024 @@ -25334,10 +25336,10 @@ HGNC:8898 PGK2 phosphoglycerate kinase 2 protein-coding gene gene with protein p HGNC:8903 PGLS 6-phosphogluconolactonase protein-coding gene gene with protein product Approved 19p13.11 19p13.11 6PGL 2000-01-20 2023-01-20 25796 ENSG00000130313 OTTHUMG00000182879 uc002ngw.4 AJ243972 NM_012088 CCDS12361 O95336 10518023 MGI:1913421 RGD:1307001 604951 3.1.1.31 HGNC:8903 "ENST00000252603.7|NM_012088.3" HGNC:55274 PGLS-DT PGLS divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 Divergent transcripts 1990 2020-10-05 2020-10-05 100507551 ENSG00000269439 NR_147835 HGNC:8904 PGLYRP1 peptidoglycan recognition protein 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "TAG7|PGRP|PGRP-S|PGRPS" "TNFSF3L|PGLYRP" peptidoglycan recognition protein Peptidoglycan recognition proteins 1397 1999-01-15 2004-03-19 2004-03-17 2023-01-20 8993 ENSG00000008438 OTTHUMG00000182489 uc002pdx.4 AF076483 NM_005091 CCDS12680 O75594 "9707603|12669421" MGI:1345092 RGD:621429 604963 HGNC:8904 "ENST00000008938.5|NM_005091.3" -HGNC:30013 PGLYRP2 peptidoglycan recognition protein 2 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "PGRP-L|PGLYRPL|TAGL-like|tagL|tagL-alpha|tagl-beta|PGRPL" "peptidoglycan recognition protein L precursor|peptidoglycan recognition protein-like|N-acetylmuramoyl-L-alanine amidase" Peptidoglycan recognition proteins 1397 2004-03-17 2023-01-20 114770 ENSG00000161031 OTTHUMG00000150690 uc002nbf.5 AY358156 NM_052890 "CCDS86718|CCDS12330" Q96PD5 "11461926|12669421|14506276" MGI:1928099 RGD:1359183 608199 3.5.1.28 HGNC:30013 "ENST00000340880.5|NM_052890.4" +HGNC:30013 PGLYRP2 peptidoglycan recognition protein 2 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "PGRP-L|PGLYRPL|TAGL-like|tagL|tagL-alpha|tagl-beta|PGRPL" "peptidoglycan recognition protein L precursor|peptidoglycan recognition protein-like|N-acetylmuramoyl-L-alanine amidase" Peptidoglycan recognition proteins 1397 2004-03-17 2023-01-20 114770 ENSG00000161031 OTTHUMG00000150690 uc002nbf.5 AY358156 NM_052890 "CCDS12330|CCDS86718" Q96PD5 "11461926|12669421|14506276" MGI:1928099 RGD:1359183 608199 3.5.1.28 HGNC:30013 "ENST00000340880.5|NM_052890.4" HGNC:30014 PGLYRP3 peptidoglycan recognition protein 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PGRPIA|PGLYRPIalpha|PGRP-Ialpha" peptidoglycan recognition protein I alpha precursor Peptidoglycan recognition proteins 1397 2004-03-17 2023-01-20 114771 ENSG00000159527 OTTHUMG00000014044 uc001fbn.1 AY035376 NM_052891 CCDS1035 Q96LB9 11461926 MGI:2685266 RGD:1593164 608197 HGNC:30014 "ENST00000683862.1|NM_052891.3" HGNC:30015 PGLYRP4 peptidoglycan recognition protein 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "SBBI67|PGRPIB|PGLYRPIbeta|PGRP-Ibeta" peptidoglycan recognition protein I beta precursor Peptidoglycan recognition proteins 1397 2004-03-17 2023-01-20 57115 ENSG00000163218 OTTHUMG00000037057 uc001fbo.4 AF242518 NM_020393 CCDS30871 Q96LB8 11461926 MGI:2686324 RGD:1308520 608198 HGNC:30015 "ENST00000359650.10|NM_020393.4" -HGNC:8905 PGM1 phosphoglucomutase 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 2001-06-22 2023-01-20 5236 ENSG00000079739 OTTHUMG00000008968 uc001dbh.5 BC019920 NM_002633 "CCDS625|CCDS53323|CCDS53324" P36871 "4517931|1530890" MGI:97565 RGD:3316 171900 124229 5.4.2.2 HGNC:8905 "ENST00000371084.8|NM_002633.3" HGNC:8905 +HGNC:8905 PGM1 phosphoglucomutase 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 2001-06-22 2023-01-20 5236 ENSG00000079739 OTTHUMG00000008968 uc001dbh.5 BC019920 NM_002633 "CCDS53324|CCDS53323|CCDS625" P36871 "4517931|1530890" MGI:97565 RGD:3316 171900 124229 5.4.2.2 HGNC:8905 "ENST00000371084.8|NM_002633.3" HGNC:8905 HGNC:8906 PGM2 phosphoglucomutase 2 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ10983 phosphopentomutase 2001-06-22 2023-01-20 55276 ENSG00000169299 OTTHUMG00000097813 uc011byb.2 BC010087 NM_018290 CCDS3443 Q96G03 9549096 MGI:97564 RGD:1306061 172000 5.4.2.2 HGNC:8906 "ENST00000381967.9|NM_018290.4" HGNC:20898 PGM2L1 phosphoglucomutase 2 like 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FLJ32029|BM32A" glucose-1,6-bisphosphate synthase 2004-01-20 2016-06-17 2023-01-20 283209 ENSG00000165434 OTTHUMG00000168132 uc001ovb.2 AB019210 NM_173582 CCDS8231 Q6PCE3 17804405 MGI:1918224 RGD:1583226 611610 HGNC:20898 "ENST00000298198.5|NM_173582.6" HGNC:8907 PGM3 phosphoglucomutase 3 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "AGM1|DKFZP434B187|PAGM" "acetylglucosamine phosphomutase|phosphoacetylglucosamine mutase" 2001-06-22 2023-01-20 5238 ENSG00000013375 OTTHUMG00000015110 uc003pju.3 BC001258 NM_015599 "CCDS93954|CCDS75487|CCDS56435|CCDS56436|CCDS4997" O95394 "12174217|10721701" MGI:97566 RGD:1305221 LRG_1312|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1312.xml 172100 446811 5.4.2.3 HGNC:8907 "ENST00000513973.6|NM_015599.3" HGNC:8907 @@ -25350,20 +25352,20 @@ HGNC:51194 PGM5P3-AS1 PGM5P3 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:49605 PGM5P4 phosphoglucomutase 5 pseudogene 4 pseudogene pseudogene Approved 2q13 02q13 2014-01-23 2014-01-23 729468 ENSG00000225398 OTTHUMG00000047819 NR_146438 PGOHUM00000240872 HGNC:49605 HGNC:51195 PGM5P4-AS1 PGM5P4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 FAM233C family with sequence similarity 233, member C Antisense RNAs 1987 2014-08-01 2014-08-01 103344932 ENSG00000231943 OTTHUMG00000047830 NR_121185 PGM5P4-AS1 HGNC:51195 HGNC:8909 PGP phosphoglycolate phosphatase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 2001-06-22 2023-01-20 283871 ENSG00000184207 OTTHUMG00000177047 uc002cpk.2 BC035985 NM_024118 CCDS42104 A6NDG6 MGI:1914328 RGD:1307773 172280 3.1.3.18 HGNC:8909 "ENST00000333503.8|NM_001042371.3" -HGNC:13568 PGPEP1 pyroglutamyl-peptidase I protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "PGP-I|Pcp|PGP|PGPI" pyroglutamyl aminopeptidase 2001-01-26 2023-01-20 54858 ENSG00000130517 OTTHUMG00000183358 uc002nis.2 AJ278828 NM_017712 "CCDS77264|CCDS82319|CCDS12375|CCDS74314" Q9NXJ5 MGI:1913772 RGD:1303133 610694 C15.010 3.4.19.3 HGNC:13568 "ENST00000269919.11|NM_017712.4" -HGNC:27080 PGPEP1L pyroglutamyl-peptidase I like protein-coding gene gene with protein product Approved 15q26.3 15q26.3 2010-02-16 2018-01-26 2023-01-20 145814 ENSG00000183571 OTTHUMG00000171896 uc002bum.4 NM_001102612.2 "CCDS58400|CCDS53977" A6NFU8 MGI:1925694 RGD:1561859 HGNC:27080 "ENST00000535714.2|NM_001167902.2" -HGNC:8910 PGR progesterone receptor protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "PR|NR3C3" Nuclear receptor subfamily 3 group C 2076 2001-06-22 2023-01-20 5241 ENSG00000082175 OTTHUMG00000167531 uc001pgh.3 M15716 NM_000926 "CCDS8310|CCDS59229" P06401 MGI:97567 RGD:3317 607311 470870 objectId:627 HGNC:8910 "ENST00000325455.10|NM_000926.4" +HGNC:13568 PGPEP1 pyroglutamyl-peptidase I protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "PGP-I|Pcp|PGP|PGPI" pyroglutamyl aminopeptidase 2001-01-26 2023-01-20 54858 ENSG00000130517 OTTHUMG00000183358 uc002nis.2 AJ278828 NM_017712 "CCDS12375|CCDS77264|CCDS74314|CCDS82319" Q9NXJ5 MGI:1913772 RGD:1303133 610694 C15.010 3.4.19.3 HGNC:13568 "ENST00000269919.11|NM_017712.4" +HGNC:27080 PGPEP1L pyroglutamyl-peptidase I like protein-coding gene gene with protein product Approved 15q26.3 15q26.3 2010-02-16 2018-01-26 2023-01-20 145814 ENSG00000183571 OTTHUMG00000171896 uc002bum.4 NM_001102612.2 "CCDS53977|CCDS58400" A6NFU8 MGI:1925694 RGD:1561859 HGNC:27080 "ENST00000535714.2|NM_001167902.2" +HGNC:8910 PGR progesterone receptor protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "PR|NR3C3" Nuclear receptor subfamily 3 group C 2076 2001-06-22 2023-01-20 5241 ENSG00000082175 OTTHUMG00000167531 uc001pgh.3 M15716 NM_000926 "CCDS59229|CCDS8310" P06401 MGI:97567 RGD:3317 607311 470870 objectId:627 HGNC:8910 "ENST00000325455.10|NM_000926.4" HGNC:52650 PGR-AS1 PGR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q22.1 11q22.1 "AT1|AT2|AT3" PR-antisense-transcripts Antisense RNAs 1987 2016-11-24 2016-11-24 101054525 ENSG00000282728 OTTHUMG00000167532 NR_073144 18604220 prantisensetranscripts HGNC:52650 HGNC:16090 PGRMC1 progesterone receptor membrane component 1 protein-coding gene gene with protein product Approved Xq24 Xq24 HPR6.6 Membrane associated progesterone receptor family 1282 2001-07-25 2023-01-20 10857 ENSG00000101856 OTTHUMG00000022268 uc004erb.5 NM_006667 "CCDS14576|CCDS65313" O00264 9705155 MGI:1858305 RGD:70890 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PGRMC1 300435 470872 HGNC:16090 "ENST00000217971.8|NM_006667.5" HGNC:16089 PGRMC2 progesterone receptor membrane component 2 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 "PMBP|DG6" Membrane associated progesterone receptor family 1282 2001-07-25 2023-01-20 10424 ENSG00000164040 OTTHUMG00000133342 uc062zmv.1 NM_006320 CCDS3739 O15173 9705155 MGI:1918054 RGD:1308804 607735 HGNC:16089 "ENST00000296425.10|NM_006320.6" HGNC:30029 PGS1 phosphatidylglycerophosphate synthase 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 DKFZP762M186 2005-11-15 2023-01-20 9489 ENSG00000087157 OTTHUMG00000177514 uc002jvm.4 NM_024419 CCDS42391 Q32NB8 9880566 MGI:1921701 RGD:1305052 614942 HGNC:30029 "ENST00000262764.11|NM_024419.5" -HGNC:20990 PHACTR1 phosphatase and actin regulator 1 protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "KIAA1733|dJ257A7.2" RPEL1 RPEL repeat containing 1 Phosphatase and actin regulators 679 2003-05-19 2004-05-21 2004-05-20 2023-01-20 221692 ENSG00000112137 OTTHUMG00000014270 uc010jpc.4 AB051520 NM_001242648 "CCDS93860|CCDS93857|CCDS93858|CCDS75401|CCDS93859" Q9C0D0 "11214970|15107502" MGI:2659021 RGD:1303187 608723 HGNC:20990 "ENST00000332995.12|NM_030948.6" HGNC:20990 -HGNC:20956 PHACTR2 phosphatase and actin regulator 2 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 KIAA0680 C6orf56 chromosome 6 open reading frame 56 Phosphatase and actin regulators 679 2003-04-24 2004-05-20 2004-05-20 2023-01-20 9749 ENSG00000112419 OTTHUMG00000015732 uc010khh.4 AB014580 NM_014721 "CCDS94015|CCDS47494|CCDS47493|CCDS47492|CCDS43512" O75167 "9734811|15107502" MGI:2446138 RGD:1303141 608724 HGNC:20956 "ENST00000440869.7|NM_001100164.2" +HGNC:20990 PHACTR1 phosphatase and actin regulator 1 protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "KIAA1733|dJ257A7.2" RPEL1 RPEL repeat containing 1 Phosphatase and actin regulators 679 2003-05-19 2004-05-21 2004-05-20 2023-01-20 221692 ENSG00000112137 OTTHUMG00000014270 uc010jpc.4 AB051520 NM_001242648 "CCDS93858|CCDS93860|CCDS93857|CCDS93859|CCDS75401" Q9C0D0 "11214970|15107502" MGI:2659021 RGD:1303187 608723 HGNC:20990 "ENST00000332995.12|NM_030948.6" HGNC:20990 +HGNC:20956 PHACTR2 phosphatase and actin regulator 2 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 KIAA0680 C6orf56 chromosome 6 open reading frame 56 Phosphatase and actin regulators 679 2003-04-24 2004-05-20 2004-05-20 2023-01-20 9749 ENSG00000112419 OTTHUMG00000015732 uc010khh.4 AB014580 NM_014721 "CCDS47492|CCDS47493|CCDS47494|CCDS94015|CCDS43512" O75167 "9734811|15107502" MGI:2446138 RGD:1303141 608724 HGNC:20956 "ENST00000440869.7|NM_001100164.2" HGNC:40943 PHACTR2-AS1 PHACTR2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.2 06q24.2 "NR027113|lncIHS" lncRNA intersection between HBx microarray and SMYD3 microarray Antisense RNAs 1987 2015-10-15 2019-07-17 285740 ENSG00000235740 OTTHUMG00000015731 NR_027114 "30468465|31128422" PHACTR2-AS1 HGNC:40943 HGNC:49488 PHACTR2P1 phosphatase and actin regulator 2 pseudogene 1 pseudogene pseudogene Approved 10q26.11 10q26.11 2013-12-20 2013-12-20 100533676 ENSG00000270300 OTTHUMG00000184679 NG_028754 PGOHUM00000258506 HGNC:49488 -HGNC:15833 PHACTR3 phosphatase and actin regulator 3 protein-coding gene gene with protein product Approved 20q13.32-q13.33 20q13.32-q13.33 PPP1R123 protein phosphatase 1, regulatory subunit 123 C20orf101 chromosome 20 open reading frame 101 "Phosphatase and actin regulators|Protein phosphatase 1 regulatory subunits" "679|694" 2001-06-15 2004-05-20 2004-05-20 2023-01-20 116154 ENSG00000087495 OTTHUMG00000032869 uc002yau.5 AJ311122 NM_080672 "CCDS56202|CCDS13481|CCDS42895|CCDS13480" Q96KR7 15107502 MGI:1921439 RGD:1303029 608725 HGNC:15833 "ENST00000371015.6|NM_080672.5" +HGNC:15833 PHACTR3 phosphatase and actin regulator 3 protein-coding gene gene with protein product Approved 20q13.32-q13.33 20q13.32-q13.33 PPP1R123 protein phosphatase 1, regulatory subunit 123 C20orf101 chromosome 20 open reading frame 101 "Phosphatase and actin regulators|Protein phosphatase 1 regulatory subunits" "679|694" 2001-06-15 2004-05-20 2004-05-20 2023-01-20 116154 ENSG00000087495 OTTHUMG00000032869 uc002yau.5 AJ311122 NM_080672 "CCDS13481|CCDS56202|CCDS13480|CCDS42895" Q96KR7 15107502 MGI:1921439 RGD:1303029 608725 HGNC:15833 "ENST00000371015.6|NM_080672.5" HGNC:40727 PHACTR3-AS1 PHACTR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.32 20q13.32 Antisense RNAs 1987 2019-09-19 2019-09-19 100506384 ENSG00000238194 OTTHUMG00000137388 NR_040513 HGNC:40727 -HGNC:25793 PHACTR4 phosphatase and actin regulator 4 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "FLJ13171|PPP1R124" protein phosphatase 1, regulatory subunit 124 "Phosphatase and actin regulators|Protein phosphatase 1 regulatory subunits" "679|694" 2004-05-20 2023-01-20 65979 ENSG00000204138 OTTHUMG00000003541 uc001bpy.5 AF130081 NM_023923 "CCDS41294|CCDS41293" Q8IZ21 "11483580|15107502" MGI:2140327 RGD:1592823 608726 HGNC:25793 "ENST00000373839.8|NM_001048183.3" +HGNC:25793 PHACTR4 phosphatase and actin regulator 4 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "FLJ13171|PPP1R124" protein phosphatase 1, regulatory subunit 124 "Phosphatase and actin regulators|Protein phosphatase 1 regulatory subunits" "679|694" 2004-05-20 2023-01-20 65979 ENSG00000204138 OTTHUMG00000003541 uc001bpy.5 AF130081 NM_023923 "CCDS41293|CCDS41294" Q8IZ21 "11483580|15107502" MGI:2140327 RGD:1592823 608726 HGNC:25793 "ENST00000373839.8|NM_001048183.3" HGNC:29564 PHAF1 phagosome assembly factor 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "lin-10|FLJ12076" "C16orf6|LIN10|C16orf70" "chromosome 16 open reading frame 6|chromosome 16 open reading frame 70" 2005-08-17 2021-02-15 2021-02-15 2023-01-20 80262 ENSG00000125149 OTTHUMG00000137510 uc002erd.4 AK022138 NM_025187 CCDS10828 Q9BSU1 33499712 MGI:2443049 RGD:621098 HGNC:29564 "ENST00000219139.8|NM_025187.5" HGNC:10241 PHAX phosphorylated adaptor for RNA export protein-coding gene gene with protein product Approved 5q23.2 05q23.2 FLJ13193 RNUXA RNA U, small nuclear RNA export adaptor (phosphorylation regulated) 2000-06-16 2008-10-01 2008-10-01 2023-01-20 51808 ENSG00000164902 OTTHUMG00000163273 uc003kua.3 AK023255 NM_032177 CCDS4138 Q9H814 10786834 MGI:1891839 RGD:708448 604924 HGNC:10241 "ENST00000297540.5|NM_032177.4" HGNC:8912 PHB1 prohibitin 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 PHB prohibitin 1991-03-04 2021-11-01 2021-11-01 2023-01-20 5245 ENSG00000167085 OTTHUMG00000134271 uc032fme.2 NM_002634 "CCDS11548|CCDS62244" P35232 "10376528|8244394" MGI:97572 RGD:3322 176705 HGNC:8912 "ENST00000300408.8|NM_002634.4" @@ -25392,14 +25394,14 @@ HGNC:30306 PHB2 prohibitin 2 protein-coding gene gene with protein product Appro HGNC:45249 PHB2P1 PHB2 pseudogene 1 pseudogene pseudogene Approved 10q25.1 10q25.1 prohibitin 2 pseudogene 1 2013-03-11 2021-11-10 2021-11-10 645318 ENSG00000232728 OTTHUMG00000019025 NG_022190 PGOHUM00000238914 HGNC:45249 HGNC:3182 PHC1 polyhomeotic homolog 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HPH1|RAE28" EDR1 "early development regulator 1 (homolog of polyhomeotic 1)|polyhomeotic-like 1 (Drosophila)|polyhomeotic homolog 1 (Drosophila)" Sterile alpha motif domain containing 760 1997-09-12 2002-11-15 2016-01-22 2023-01-20 1911 ENSG00000111752 OTTHUMG00000168275 uc001qve.4 U89277 NM_004426 CCDS8597 P78364 9121482 MGI:103248 RGD:1309203 602978 326554 HGNC:3182 "ENST00000544916.6|NM_004426.3" HGNC:3182 HGNC:34502 PHC1P1 polyhomeotic homolog 1 pseudogene 1 pseudogene pseudogene Approved 12q13.2 12q13.2 PHC1B "polyhomeotic homolog 1B (Drosophila)|polyhomeotic homolog 1 (Drosophila) pseudogene 1" 2008-08-05 2011-09-02 2016-01-22 2016-01-22 653441 ENSG00000179899 OTTHUMG00000170978 XM_934166 PGOHUM00000258678 HGNC:34502 -HGNC:3183 PHC2 polyhomeotic homolog 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 HPH2 EDR2 "early development regulator 2 (homolog of polyhomeotic 2)|polyhomeotic-like 2 (Drosophila)|polyhomeotic homolog 2 (Drosophila)" "Sterile alpha motif domain containing|MicroRNA protein coding host genes" "760|1691" 1997-09-12 2002-11-15 2016-01-22 2023-01-20 1912 ENSG00000134686 OTTHUMG00000004133 uc001bxg.2 AJ419231 NM_198040 "CCDS81298|CCDS90912|CCDS90911|CCDS378|CCDS379" Q8IXK0 "9121482|12384788" MGI:1860454 RGD:1307912 602979 HGNC:3183 "ENST00000683057.1|NM_001385109.1" +HGNC:3183 PHC2 polyhomeotic homolog 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 HPH2 EDR2 "early development regulator 2 (homolog of polyhomeotic 2)|polyhomeotic-like 2 (Drosophila)|polyhomeotic homolog 2 (Drosophila)" "Sterile alpha motif domain containing|MicroRNA protein coding host genes" "760|1691" 1997-09-12 2002-11-15 2016-01-22 2023-01-20 1912 ENSG00000134686 OTTHUMG00000004133 uc001bxg.2 AJ419231 NM_198040 "CCDS81298|CCDS378|CCDS379|CCDS90911|CCDS90912" Q8IXK0 "9121482|12384788" MGI:1860454 RGD:1307912 602979 HGNC:3183 "ENST00000683057.1|NM_001385109.1" HGNC:40205 PHC2-AS1 PHC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p35.1 01p35.1 Antisense RNAs 1987 2019-09-19 2019-09-19 101929464 ENSG00000233246 OTTHUMG00000004127 NR_125978 HGNC:40205 -HGNC:15682 PHC3 polyhomeotic homolog 3 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "EDR3|FLJ12967|FLJ12729|HPH3" "early development regulator 3|polyhomeotic like 3" "polyhomeotic like 3 (Drosophila)|polyhomeotic homolog 3 (Drosophila)" Sterile alpha motif domain containing 760 2002-10-03 2016-01-22 2023-01-20 80012 ENSG00000173889 OTTHUMG00000158777 uc003fgl.3 NM_024947 "CCDS77858|CCDS46952" Q8NDX5 "12167701|12384788" MGI:2181434 RGD:1307998 620031 HGNC:15682 "ENST00000495893.7|NM_024947.4" -HGNC:26509 PHETA1 PH domain containing endocytic trafficking adaptor 1 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 "FLJ32356|SES1|IPIP27A" "Sesquipedalian-1|inositol polyphosphate phosphatase-interacting protein A" FAM109A "family with sequence similarity 109, member A|family with sequence similarity 109 member A" Pleckstrin homology domain containing 682 2006-01-17 2018-02-22 2018-02-22 2023-01-20 144717 ENSG00000198324 OTTHUMG00000169547 uc058tgs.1 BC034809 NM_144671 "CCDS9152|CCDS53833" Q8N4B1 21233288 MGI:2442708 RGD:1310656 614239 HGNC:26509 "ENST00000683047.1|NM_144671.6" +HGNC:15682 PHC3 polyhomeotic homolog 3 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "EDR3|FLJ12967|FLJ12729|HPH3" "early development regulator 3|polyhomeotic like 3" "polyhomeotic like 3 (Drosophila)|polyhomeotic homolog 3 (Drosophila)" Sterile alpha motif domain containing 760 2002-10-03 2016-01-22 2023-01-20 80012 ENSG00000173889 OTTHUMG00000158777 uc003fgl.3 NM_024947 "CCDS46952|CCDS77858" Q8NDX5 "12167701|12384788" MGI:2181434 RGD:1307998 620031 HGNC:15682 "ENST00000495893.7|NM_024947.4" +HGNC:26509 PHETA1 PH domain containing endocytic trafficking adaptor 1 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 "FLJ32356|SES1|IPIP27A" "Sesquipedalian-1|inositol polyphosphate phosphatase-interacting protein A" FAM109A "family with sequence similarity 109, member A|family with sequence similarity 109 member A" Pleckstrin homology domain containing 682 2006-01-17 2018-02-22 2018-02-22 2023-01-20 144717 ENSG00000198324 OTTHUMG00000169547 uc058tgs.1 BC034809 NM_144671 "CCDS53833|CCDS9152" Q8N4B1 21233288 MGI:2442708 RGD:1310656 614239 HGNC:26509 "ENST00000683047.1|NM_144671.6" HGNC:27161 PHETA2 PH domain containing endocytic trafficking adaptor 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "DKFZp686J07229|SES2|IPIP27B" "Sesquipedalian-2|inositol polyphosphate phosphatase-interacting protein B" FAM109B "family with sequence similarity 109, member B|family with sequence similarity 109 member B" Pleckstrin homology domain containing 682 2006-01-17 2018-02-22 2018-02-22 2023-01-20 150368 ENSG00000177096 OTTHUMG00000151285 uc003bbz.4 BX648402 NM_001002034 CCDS33655 Q6ICB4 12477932 MGI:2443609 RGD:1586415 614240 HGNC:27161 "ENST00000321753.8|NM_001002034.3" HGNC:8918 PHEX phosphate regulating endopeptidase X-linked protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "PEX|HPDR1|HYP1|XLH" "PHEX peptidase|Phosphate-regulating neutral endopeptidase" "HYP|HPDR" "phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)|phosphate regulating endopeptidase homolog, X-linked|phosphate regulating endopeptidase homolog X-linked" M13 metallopeptidases 1439 1986-01-06 2022-07-08 2023-01-20 5251 ENSG00000102174 OTTHUMG00000021241 uc004dah.5 U82970 NM_000444 CCDS14204 P78562 "7550339|9070861|11311133" MGI:107489 RGD:3323 PHEXdb Locus Database|http://www.phexdb.mcgill.ca 300550 124239 M13.091 3.4.24.B15 HGNC:8918 "ENST00000379374.5|NM_000444.6" HGNC:8918 HGNC:40445 PHEX-AS1 PHEX antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.11 Xp22.11 PHEX antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873942 ENSG00000224204 OTTHUMG00000021240 uc031tgy.2 NR_046639 PHEX-AS1 HGNC:40445 -HGNC:8919 PHF1 PHD finger protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "MTF2L2|TDRD19C|PCL1" "tudor domain containing 19C|polycomb-like 1" "PHD finger proteins|Tudor domain containing" "88|780" 1997-10-10 2023-01-20 5252 ENSG00000112511 OTTHUMG00000031105 uc003oeh.4 AF029678 NM_002636 "CCDS4777|CCDS4778" O43189 "9545646|18385154" MGI:98647 RGD:1303205 602881 HGNC:8919 "ENST00000374516.8|NM_024165.3" +HGNC:8919 PHF1 PHD finger protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "MTF2L2|TDRD19C|PCL1" "tudor domain containing 19C|polycomb-like 1" "PHD finger proteins|Tudor domain containing" "88|780" 1997-10-10 2023-01-20 5252 ENSG00000112511 OTTHUMG00000031105 uc003oeh.4 AF029678 NM_002636 "CCDS4778|CCDS4777" O43189 "9545646|18385154" MGI:98647 RGD:1303205 602881 HGNC:8919 "ENST00000374516.8|NM_024165.3" HGNC:8920 PHF2 PHD finger protein 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "KIAA0662|JHDM1E|CENP-35|KDM7C" "jumonji C domain-containing histone demethylase 1E|centromere protein 35" "PHD finger proteins|Lysine demethylases|MicroRNA protein coding host genes" "88|485|1691" 1998-04-07 2015-03-27 2015-03-27 2023-01-20 5253 ENSG00000197724 OTTHUMG00000020253 uc004aub.4 AF043725 NM_005392 CCDS35069 O75151 "10051327|20129925" MGI:1338034 RGD:1305228 604351 objectId:2697 HGNC:8920 "ENST00000359246.9|NM_005392.4" HGNC:30241 PHF2P1 PHD finger protein 2 pseudogene 1 pseudogene pseudogene Approved 13q11 13q11 DKFZp686A1627 2010-08-05 2014-11-19 266695 NR_002801 PGOHUM00000248302 HGNC:30241 HGNC:38808 PHF2P2 PHD finger protein 2 pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 2010-08-05 2010-08-05 2014-11-18 100873793 ENSG00000226057 OTTHUMG00000016472 NG_032221 HGNC:38808 @@ -25412,21 +25414,21 @@ HGNC:23266 PHF5AP4 PHF5A pseudogene 4 pseudogene pseudogene Approved Xq23 Xq23 HGNC:23269 PHF5AP5 PHF5A pseudogene 5 pseudogene pseudogene Approved 2q24.3 02q24.3 PHF5GP PHD finger protein 5G pseudogene 2006-09-22 2022-11-09 2022-11-09 2022-11-09 450234 ENSG00000238259 NG_005421 HGNC:23269 HGNC:23264 PHF5AP6 PHF5A pseudogene 6 pseudogene pseudogene Approved 15q26.3 15q26.3 PHF5HP PHD finger protein 5H pseudogene 2006-09-22 2022-11-09 2022-11-09 2022-11-09 450250 NG_005425 HGNC:23264 HGNC:56552 PHF5AP7 PHF5A pseudogene 7 pseudogene pseudogene Approved 3q23 03q23 2022-11-09 2022-11-09 100289442 ENSG00000249540 NG_030106 PGOHUM00000299201 -HGNC:18145 PHF6 PHD finger protein 6 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "KIAA1823|MGC14797|CENP-31" centromere protein 31 "BFLS|BORJ" Borjeson-Forssman-Lehmann syndrome PHD finger proteins 88 2002-02-28 2023-01-20 84295 ENSG00000156531 OTTHUMG00000022453 uc004exj.4 AB058726 NM_032458 "CCDS14639|CCDS14640" Q8IWS0 "12415272|15466013" MGI:1918248 RGD:2323526 LRG_629|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_629.xml PHF6 300414 117602 HGNC:18145 "ENST00000370803.8|NM_001015877.2" HGNC:18145 -HGNC:18458 PHF7 PHD finger protein 7 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "NYD-SP6|HSPC226" PHD finger proteins 88 2002-07-22 2023-01-20 51533 ENSG00000010318 OTTHUMG00000158495 uc003ddy.5 AY014283 NM_016483 "CCDS2855|CCDS2854" Q9BWX1 "11042152|11829468" MGI:1919088 RGD:1308638 620057 HGNC:18458 "ENST00000327906.8|NM_016483.7" -HGNC:20672 PHF8 PHD finger protein 8 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "ZNF422|KIAA1111|JHDM1F|KDM7B" "jumonji C domain-containing histone demethylase 1F|histone lysine demethylase PHF8|lysine demethylase 7B|zinc finger protein 422" "PHD finger proteins|Lysine demethylases" "88|485" 2004-04-30 2023-03-15 23133 ENSG00000172943 OTTHUMG00000021622 uc004dst.4 AB029034 NM_015107 "CCDS14355|CCDS55419|CCDS55420" Q9UPP1 "10470851|20023638|20644565" MGI:2444341 RGD:1561065 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PHF8 300560 138583 objectId:2698 HGNC:20672 "ENST00000338154.11|NM_015107.3" HGNC:20672 -HGNC:18250 PHF10 PHD finger protein 10 protein-coding gene gene with protein product Approved 6q27 06q27 "FLJ10975|XAP135|BAF45a|SMARCG4" "PHD finger proteins|BAF complex|PBAF complex" "88|1604|1605" 2003-04-01 2023-01-20 55274 ENSG00000130024 OTTHUMG00000016058 uc011egy.3 AF338735 NM_018288 "CCDS5308|CCDS5309" Q8WUB8 11827455 MGI:1919307 RGD:1305266 613069 HGNC:18250 "ENST00000339209.9|NM_018288.4" +HGNC:18145 PHF6 PHD finger protein 6 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "KIAA1823|MGC14797|CENP-31" centromere protein 31 "BFLS|BORJ" Borjeson-Forssman-Lehmann syndrome PHD finger proteins 88 2002-02-28 2023-01-20 84295 ENSG00000156531 OTTHUMG00000022453 uc004exj.4 AB058726 NM_032458 "CCDS14640|CCDS14639" Q8IWS0 "12415272|15466013" MGI:1918248 RGD:2323526 LRG_629|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_629.xml PHF6 300414 117602 HGNC:18145 "ENST00000370803.8|NM_001015877.2" HGNC:18145 +HGNC:18458 PHF7 PHD finger protein 7 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "NYD-SP6|HSPC226" PHD finger proteins 88 2002-07-22 2023-01-20 51533 ENSG00000010318 OTTHUMG00000158495 uc003ddy.5 AY014283 NM_016483 "CCDS2854|CCDS2855" Q9BWX1 "11042152|11829468" MGI:1919088 RGD:1308638 620057 HGNC:18458 "ENST00000327906.8|NM_016483.7" +HGNC:20672 PHF8 PHD finger protein 8 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "ZNF422|KIAA1111|JHDM1F|KDM7B" "jumonji C domain-containing histone demethylase 1F|histone lysine demethylase PHF8|lysine demethylase 7B|zinc finger protein 422" "PHD finger proteins|Lysine demethylases" "88|485" 2004-04-30 2023-03-15 23133 ENSG00000172943 OTTHUMG00000021622 uc004dst.4 AB029034 NM_015107 "CCDS55420|CCDS55419|CCDS14355" Q9UPP1 "10470851|20023638|20644565" MGI:2444341 RGD:1561065 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PHF8 300560 138583 objectId:2698 HGNC:20672 "ENST00000338154.11|NM_015107.3" HGNC:20672 +HGNC:18250 PHF10 PHD finger protein 10 protein-coding gene gene with protein product Approved 6q27 06q27 "FLJ10975|XAP135|BAF45a|SMARCG4" "PHD finger proteins|BAF complex|PBAF complex" "88|1604|1605" 2003-04-01 2023-01-20 55274 ENSG00000130024 OTTHUMG00000016058 uc011egy.3 AF338735 NM_018288 "CCDS5309|CCDS5308" Q8WUB8 11827455 MGI:1919307 RGD:1305266 613069 HGNC:18250 "ENST00000339209.9|NM_018288.4" HGNC:23210 PHF10P1 PHD finger protein 10 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 XAP135P 2003-10-13 2020-07-17 158905 ENSG00000228986 AF338734 NG_001314 11827455 HGNC:23210 HGNC:17024 PHF11 PHD finger protein 11 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "NY-REN-34|BCAP|IGER" IgE responsiveness (atopic) PHD finger proteins 88 2003-05-08 2023-01-20 51131 ENSG00000136147 OTTHUMG00000016916 uc001vdb.4 AB011031 NM_016119 "CCDS31975|CCDS41887" Q9UIL8 "10508479|15057823" "MGI:1918441|MGI:3645789|MGI:3648476|MGI:1277133|MGI:3644962" RGD:1310853 607796 HGNC:17024 "ENST00000378319.8|NM_001040443.3" -HGNC:20816 PHF12 PHD finger protein 12 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "PF1|KIAA1523" "PHD finger proteins|EMSY complex" "88|1243" 2003-05-22 2023-01-20 57649 ENSG00000109118 OTTHUMG00000132676 uc002hdj.1 AB040956 NM_020889 "CCDS11247|CCDS76981|CCDS32598" Q96QT6 11390640 MGI:1924057 RGD:1305731 618645 HGNC:20816 "ENST00000332830.9|NM_001033561.2" +HGNC:20816 PHF12 PHD finger protein 12 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "PF1|KIAA1523" "PHD finger proteins|EMSY complex" "88|1243" 2003-05-22 2023-01-20 57649 ENSG00000109118 OTTHUMG00000132676 uc002hdj.1 AB040956 NM_020889 "CCDS11247|CCDS32598|CCDS76981" Q96QT6 11390640 MGI:1924057 RGD:1305731 618645 HGNC:20816 "ENST00000332830.9|NM_001033561.2" HGNC:22983 PHF13 PHD finger protein 13 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 MGC43399 PHD finger proteins 88 2003-08-11 2023-01-20 148479 ENSG00000116273 OTTHUMG00000001439 uc001aob.5 AK027492 NM_153812 CCDS85 Q86YI8 MGI:2446217 RGD:1308145 620054 HGNC:22983 "ENST00000377648.5|NM_153812.3" HGNC:22203 PHF14 PHD finger protein 14 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 KIAA0783 PHD finger proteins 88 2003-08-11 2023-03-15 9678 ENSG00000106443 OTTHUMG00000150463 uc284pzq.1 AB018326 NM_014660 CCDS47542 O94880 9872452 MGI:1923539 RGD:1563764 619907 HGNC:22203 "ENST00000634607.2|NM_001007157.2" -HGNC:24566 PHF19 PHD finger protein 19 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "DKFZP727G051|PCL3|MTF2L1|TDRD19B" "polycomb-like 3|tudor domain containing 19B" "PHD finger proteins|Tudor domain containing" "88|780" 2004-01-05 2023-01-20 26147 ENSG00000119403 OTTHUMG00000020577 uc004bks.3 BX640713 NM_001286840 "CCDS35116|CCDS69648|CCDS35117|CCDS75889" Q5T6S3 15563832 MGI:1921266 RGD:1310390 609740 HGNC:24566 "ENST00000373896.8|NM_015651.3" +HGNC:24566 PHF19 PHD finger protein 19 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "DKFZP727G051|PCL3|MTF2L1|TDRD19B" "polycomb-like 3|tudor domain containing 19B" "PHD finger proteins|Tudor domain containing" "88|780" 2004-01-05 2023-01-20 26147 ENSG00000119403 OTTHUMG00000020577 uc004bks.3 BX640713 NM_001286840 "CCDS35117|CCDS75889|CCDS35116|CCDS69648" Q5T6S3 15563832 MGI:1921266 RGD:1310390 609740 HGNC:24566 "ENST00000373896.8|NM_015651.3" HGNC:16098 PHF20 PHD finger protein 20 protein-coding gene gene with protein product Approved 20q11.22-q11.23 20q11.22-q11.23 "dJ1121G12.1|TDRD20A" tudor domain containing 20A C20orf104 chromosome 20 open reading frame 104 "PHD finger proteins|Tudor domain containing|NSL histone acetyltransferase complex" "88|780|1482" 2001-07-17 2004-12-01 2004-12-01 2023-01-20 51230 ENSG00000025293 OTTHUMG00000032367 uc002xek.2 AL109965 NM_016436 CCDS13268 Q9BVI0 MGI:2444148 RGD:1305020 610335 HGNC:16098 "ENST00000374012.8|NM_016436.5" -HGNC:24280 PHF20L1 PHD finger protein 20 like 1 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "CGI-72|FLJ13649|MGC64923|FLJ21615|TDRD20B" tudor domain containing 20B "PHD finger proteins|Tudor domain containing" "88|780" 2004-12-01 2017-05-12 2023-03-15 51105 ENSG00000129292 OTTHUMG00000148656 uc003ytt.4 AF230666 NM_016018 "CCDS75791|CCDS6368|CCDS6367" A8MW92 "10810093|24492612" MGI:2444412 RGD:1560141 620050 HGNC:24280 "ENST00000395386.7|NM_016018.5" -HGNC:24156 PHF21A PHD finger protein 21A protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "BHC80|KIAA1696|BM-006" PHD finger proteins 88 2005-02-07 2023-01-20 51317 ENSG00000135365 OTTHUMG00000167038 uc001ncc.5 AL359593 NM_016621 "CCDS31474|CCDS44578|CCDS91465" Q96BD5 "11214970|12032298" MGI:2384756 RGD:1560612 608325 308053 HGNC:24156 "ENST00000676320.1|NM_001352027.3" HGNC:24156 -HGNC:25161 PHF21B PHD finger protein 21B protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "BHC80L|FLJ34161" PHF4 PHD finger protein 4 PHD finger proteins 88 2005-02-07 2023-01-20 112885 ENSG00000056487 OTTHUMG00000151199 uc003bfn.4 AK091480 NM_138415 "CCDS63504|CCDS56234|CCDS14061|CCDS46727" Q96EK2 27777418 MGI:2443812 RGD:1308739 616727 HGNC:25161 "ENST00000313237.10|NM_138415.5" -HGNC:28428 PHF23 PHD finger protein 23 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC2941|FLJ16355" PHD finger proteins 88 2005-08-25 2023-01-20 79142 ENSG00000040633 OTTHUMG00000177972 uc002gfa.3 AK122791 NM_024297 "CCDS67144|CCDS42250|CCDS67143" Q9BUL5 MGI:1925496 RGD:1302969 612910 HGNC:28428 "ENST00000320316.8|NM_024297.3" +HGNC:24280 PHF20L1 PHD finger protein 20 like 1 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "CGI-72|FLJ13649|MGC64923|FLJ21615|TDRD20B" tudor domain containing 20B "PHD finger proteins|Tudor domain containing" "88|780" 2004-12-01 2017-05-12 2023-03-15 51105 ENSG00000129292 OTTHUMG00000148656 uc003ytt.4 AF230666 NM_016018 "CCDS6368|CCDS75791|CCDS6367" A8MW92 "10810093|24492612" MGI:2444412 RGD:1560141 620050 HGNC:24280 "ENST00000395386.7|NM_016018.5" +HGNC:24156 PHF21A PHD finger protein 21A protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "BHC80|KIAA1696|BM-006" PHD finger proteins 88 2005-02-07 2023-01-20 51317 ENSG00000135365 OTTHUMG00000167038 uc001ncc.5 AL359593 NM_016621 "CCDS91465|CCDS44578|CCDS31474" Q96BD5 "11214970|12032298" MGI:2384756 RGD:1560612 608325 308053 HGNC:24156 "ENST00000676320.1|NM_001352027.3" HGNC:24156 +HGNC:25161 PHF21B PHD finger protein 21B protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "BHC80L|FLJ34161" PHF4 PHD finger protein 4 PHD finger proteins 88 2005-02-07 2023-01-20 112885 ENSG00000056487 OTTHUMG00000151199 uc003bfn.4 AK091480 NM_138415 "CCDS63504|CCDS56234|CCDS46727|CCDS14061" Q96EK2 27777418 MGI:2443812 RGD:1308739 616727 HGNC:25161 "ENST00000313237.10|NM_138415.5" +HGNC:28428 PHF23 PHD finger protein 23 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC2941|FLJ16355" PHD finger proteins 88 2005-08-25 2023-01-20 79142 ENSG00000040633 OTTHUMG00000177972 uc002gfa.3 AK122791 NM_024297 "CCDS67143|CCDS67144|CCDS42250" Q9BUL5 MGI:1925496 RGD:1302969 612910 HGNC:28428 "ENST00000320316.8|NM_024297.3" HGNC:29180 PHF24 PHD finger protein 24 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 KIAA1045 KIAA1045 PHD finger proteins 88 2004-01-06 2015-06-03 2015-06-03 2023-01-20 23349 ENSG00000122733 OTTHUMG00000019844 AB028968 NM_001304333 CCDS43796 Q9UPV7 10470851 MGI:2140712 RGD:1559864 619928 HGNC:29180 "ENST00000242315.4|NM_015297.3" HGNC:8923 PHGDH phosphoglycerate dehydrogenase protein-coding gene gene with protein product Approved 1p12 01p12 "SERA|PGDH|PDG" D-3-phosphoglycerate dehydrogenase 1999-11-22 2023-01-20 26227 ENSG00000092621 OTTHUMG00000012100 uc001ehz.4 BC011262 NM_006623 CCDS904 O43175 MGI:1355330 RGD:61987 606879 117785 1.1.1.95 HGNC:8923 "ENST00000641023.2|NM_006623.4" HGNC:8923 HGNC:37226 PHGR1 proline, histidine and glycine rich 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 proline/histidine/glycine-rich 1 2009-10-08 2016-06-06 2023-01-20 644844 ENSG00000233041 OTTHUMG00000172416 uc059hrl.1 NM_001145643 CCDS45225 C9JFL3 29415677 MGI:1858382 RGD:1566202 HGNC:37226 "ENST00000448599.2|NM_001145643.2" @@ -25436,7 +25438,7 @@ HGNC:40446 PHKA1-AS1 PHKA1 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:33919 PHKA1P1 phosphorylase kinase regulatory subunit alpha 1 pseudogene pseudogene pseudogene Approved 1p22.2 01p22.2 2007-12-18 2016-05-16 2016-05-16 646780 ENSG00000232882 OTTHUMG00000057595 NG_007661 12825073 PGOHUM00000244096 HGNC:33919 HGNC:8926 PHKA2 phosphorylase kinase regulatory subunit alpha 2 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "PHK|PYK" Phosphorylase kinase subunits 2140 1991-05-09 2016-05-16 2023-01-20 5256 ENSG00000044446 OTTHUMG00000021222 uc004cyv.5 NM_000292 CCDS14190 P46019 "1372435|7711737" MGI:97577 RGD:1596945 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PHKA2 300798 117793 2.7.11.19 HGNC:8926 "ENST00000379942.5|NM_000292.3" HGNC:8926 HGNC:44110 PHKA2-AS1 PHKA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.13 Xp22.13 PHKA2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100132163 ENSG00000237836 OTTHUMG00000021220 uc004cyt.4 BC073810 NR_029379 PHKA2-AS1 HGNC:44110 -HGNC:8927 PHKB phosphorylase kinase regulatory subunit beta protein-coding gene gene with protein product Approved 16q12.1 16q12.1 phosphorylase kinase, beta Phosphorylase kinase subunits 2140 1989-02-23 2016-05-16 2023-01-20 5257 ENSG00000102893 OTTHUMG00000133102 uc002eeu.5 NM_000293 "CCDS10729|CCDS92152|CCDS42161" Q93100 "2757032|9215682" MGI:97578 RGD:620186 172490 117797 2.7.11.19 HGNC:8927 "ENST00000323584.10|NM_000293.3" HGNC:8927 +HGNC:8927 PHKB phosphorylase kinase regulatory subunit beta protein-coding gene gene with protein product Approved 16q12.1 16q12.1 phosphorylase kinase, beta Phosphorylase kinase subunits 2140 1989-02-23 2016-05-16 2023-01-20 5257 ENSG00000102893 OTTHUMG00000133102 uc002eeu.5 NM_000293 "CCDS42161|CCDS92152|CCDS10729" Q93100 "2757032|9215682" MGI:97578 RGD:620186 172490 117797 2.7.11.19 HGNC:8927 "ENST00000323584.10|NM_000293.3" HGNC:8927 HGNC:8928 PHKBP1 phosphorylase kinase regulatory subunit beta pseudogene 1 pseudogene pseudogene Approved 20p12.3 20p12.3 1995-02-22 2016-05-16 2016-07-22 5258 ENSG00000226262 OTTHUMG00000031845 NG_024957 PGOHUM00000296894 HGNC:8928 HGNC:8929 PHKBP2 phosphorylase kinase regulatory subunit beta pseudogene 2 pseudogene pseudogene Approved 14q13.3 14q13.3 1995-02-22 2016-05-16 2017-10-30 5259 ENSG00000258467 OTTHUMG00000170729 X85226 NG_001173 8681948 PGOHUM00000292326 HGNC:8929 HGNC:8930 PHKG1 phosphorylase kinase catalytic subunit gamma 1 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 PHKG phosphorylase kinase, gamma 1 (muscle) Phosphorylase kinase subunits 2140 1989-02-23 2016-05-16 2023-01-20 5260 ENSG00000164776 OTTHUMG00000023869 uc003trz.3 X80590 NM_006213 "CCDS59057|CCDS5525" Q16816 8530014 MGI:97579 RGD:3325 172470 352609 objectId:2145 2.7.11.19 HGNC:8930 "ENST00000297373.7|NM_006213.5" @@ -25446,28 +25448,28 @@ HGNC:8932 PHKG1P3 phosphorylase kinase catalytic subunit gamma 1 pseudogene 3 ps HGNC:33918 PHKG1P4 phosphorylase kinase catalytic subunit gamma 1 pseudogene 4 pseudogene pseudogene Approved 7p11.2 07p11.2 phosphorylase kinase, gamma 1 pseudogene 4 2007-12-18 2016-05-16 2016-05-16 100151641 ENSG00000229508 OTTHUMG00000156681 NG_007655 PGOHUM00000232754 HGNC:33918 HGNC:8931 PHKG2 phosphorylase kinase catalytic subunit gamma 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 phosphorylase kinase, gamma 2 (testis) Phosphorylase kinase subunits 2140 1993-06-18 2016-05-16 2023-01-20 5261 ENSG00000156873 OTTHUMG00000132400 uc059thf.1 "S73483|M31606" NM_000294 "CCDS10690|CCDS54002" P15735 "2915644|8020963" MGI:1916211 RGD:620024 172471 159810 objectId:2147 2.7.11.19 HGNC:8931 "ENST00000563588.6|NM_000294.3" HGNC:8931 HGNC:8933 PHLDA1 pleckstrin homology like domain family A member 1 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "TDAG51|DT1P1B11|PHRIP" proline-histidine rich protein pleckstrin homology-like domain, family A, member 1 1999-10-19 2016-01-27 2023-01-20 22822 ENSG00000139289 OTTHUMG00000169783 uc058rcr.1 Z50194 NM_007350 CCDS31861 Q8WV24 "12384558|15037619" MGI:1096880 RGD:3836 605335 HGNC:8933 -HGNC:55461 PHLDA1-AS1 PHLDA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 RP11-290L1.3 Antisense RNAs 1987 2021-02-08 2023-01-16 120766149 ENSG00000257453 33475530 -HGNC:55470 PHLDA1-DT PHLDA1 divergent transcript non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 Divergent transcripts 1990 2021-03-10 2021-03-10 120766142 ENSG00000257839 +HGNC:55461 PHLDA1-AS1 PHLDA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 RP11-290L1.3 Antisense RNAs 1987 2021-02-08 2023-01-16 120766149 ENSG00000257453 NR_186034 33475530 +HGNC:55470 PHLDA1-DT PHLDA1 divergent transcript non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 Divergent transcripts 1990 2021-03-10 2021-03-10 120766142 ENSG00000257839 NR_185978 HGNC:12385 PHLDA2 pleckstrin homology like domain family A member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "IPL|BWR1C|HLDA2" TSSC3 "tumor suppressing subtransferable candidate 3|pleckstrin homology-like domain, family A, member 2" Pleckstrin homology domain containing 682 1998-06-22 2003-10-01 2016-01-27 2023-01-20 7262 ENSG00000181649 OTTHUMG00000010926 uc001lxa.2 AF035444 NM_003311 CCDS7741 Q53GA4 "9328465|9403053" MGI:1202307 RGD:1304755 LRG_1043|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1043.xml 602131 HGNC:12385 "ENST00000314222.5|NM_003311.4" HGNC:8934 PHLDA3 pleckstrin homology like domain family A member 3 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 TIH1 pleckstrin homology-like domain, family A, member 2 pleckstrin homology-like domain, family A, member 3 1999-10-19 2016-01-27 2023-01-20 23612 ENSG00000174307 OTTHUMG00000035767 uc001gwq.5 AF151100 NM_012396 CCDS1412 Q9Y5J5 MGI:1351485 RGD:1310502 607054 470876 HGNC:8934 "ENST00000367311.5|NM_012396.5" HGNC:23697 PHLDB1 pleckstrin homology like domain family B member 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "FLJ00141|LL5a|KIAA0638" pleckstrin homology-like domain, family B, member 1 "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2004-01-12 2016-01-27 2023-01-20 23187 ENSG00000019144 OTTHUMG00000166341 uc001ptr.3 NM_015157 "CCDS8401|CCDS44750" Q86UU1 14532993 MGI:2143230 RGD:620878 612834 HGNC:23697 "ENST00000600882.6|NM_001144758.3" -HGNC:29573 PHLDB2 pleckstrin homology like domain family B member 2 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "LL5beta|FLJ21791|LL5b" pleckstrin homology-like domain, family B, member 2 Pleckstrin homology domain containing 682 2004-03-11 2016-01-27 2023-01-20 90102 ENSG00000144824 OTTHUMG00000159282 uc010hqa.3 NM_145753 "CCDS2962|CCDS46886|CCDS46885" Q86SQ0 12376540 MGI:2444981 RGD:1591402 610298 HGNC:29573 "ENST00000431670.7|NM_001134438.2" +HGNC:29573 PHLDB2 pleckstrin homology like domain family B member 2 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "LL5beta|FLJ21791|LL5b" pleckstrin homology-like domain, family B, member 2 Pleckstrin homology domain containing 682 2004-03-11 2016-01-27 2023-01-20 90102 ENSG00000144824 OTTHUMG00000159282 uc010hqa.3 NM_145753 "CCDS46885|CCDS2962|CCDS46886" Q86SQ0 12376540 MGI:2444981 RGD:1591402 610298 HGNC:29573 "ENST00000431670.7|NM_001134438.2" HGNC:30499 PHLDB3 pleckstrin homology like domain family B member 3 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ40193 pleckstrin homology-like domain, family B, member 3 Pleckstrin homology domain containing 682 2004-07-12 2016-01-27 2023-01-20 653583 ENSG00000176531 OTTHUMG00000150693 uc002own.5 NM_198850 CCDS12621 Q6NSJ2 MGI:3642959 RGD:1561121 HGNC:30499 "ENST00000292140.10|NM_198850.4" HGNC:20610 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "KIAA0606|SCOP|PPM3A" protein phosphatase, Mg2+/Mn2+ dependent 3A "PLEKHE1|PHLPP" "pleckstrin homology domain containing, family E (with leucine rich repeats) member 1|PH domain and leucine rich repeat protein phosphatase" "Pleckstrin homology domain containing|Protein phosphatases, Mg2+/Mn2+ dependent" "682|701" 2003-03-05 2009-05-26 2009-05-26 2023-01-20 23239 ENSG00000081913 OTTHUMG00000150629 uc021ule.2 AB011178 NM_194449 CCDS45881 O60346 "10570941|15808505" MGI:2138327 RGD:621308 609396 HGNC:20610 "ENST00000262719.10|NM_194449.4" -HGNC:29149 PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "KIAA0931|PPM3B" protein phosphatase, Mg2+/Mn2+ dependent 3B PHLPPL PH domain and leucine rich repeat protein phosphatase-like "Pleckstrin homology domain containing|Protein phosphatases, Mg2+/Mn2+ dependent|Small nucleolar RNA protein coding host genes" "682|701|1835" 2005-04-07 2009-05-26 2009-05-26 2023-01-20 23035 ENSG00000040199 OTTHUMG00000176867 uc002fax.5 BX647823 NM_015020 "CCDS32479|CCDS73910" Q6ZVD8 17386267 MGI:2444928 RGD:1562857 611066 3.1.3.16 HGNC:29149 "ENST00000568954.5|NM_015020.3" -HGNC:16815 PHOSPHO1 phosphoethanolamine/phosphocholine phosphatase 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "phosphatase, orphan 1|phosphoethanolamine/phosphocholine phosphatase" HAD Asp-based non-protein phosphatases 1045 2001-10-30 2019-07-10 2023-01-20 162466 ENSG00000173868 OTTHUMG00000161305 uc010wlv.2 AJ457189 NM_001143804 "CCDS11547|CCDS45726" Q8TCT1 12464021 MGI:2447348 RGD:1306182 470878 3.1.3.75 HGNC:16815 "ENST00000310544.9|NM_178500.4" +HGNC:29149 PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "KIAA0931|PPM3B" protein phosphatase, Mg2+/Mn2+ dependent 3B PHLPPL PH domain and leucine rich repeat protein phosphatase-like "Pleckstrin homology domain containing|Protein phosphatases, Mg2+/Mn2+ dependent|Small nucleolar RNA protein coding host genes" "682|701|1835" 2005-04-07 2009-05-26 2009-05-26 2023-01-20 23035 ENSG00000040199 OTTHUMG00000176867 uc002fax.5 BX647823 NM_015020 "CCDS73910|CCDS32479" Q6ZVD8 17386267 MGI:2444928 RGD:1562857 611066 3.1.3.16 HGNC:29149 "ENST00000568954.5|NM_015020.3" +HGNC:16815 PHOSPHO1 phosphoethanolamine/phosphocholine phosphatase 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "phosphatase, orphan 1|phosphoethanolamine/phosphocholine phosphatase" HAD Asp-based non-protein phosphatases 1045 2001-10-30 2019-07-10 2023-01-20 162466 ENSG00000173868 OTTHUMG00000161305 uc010wlv.2 AJ457189 NM_001143804 "CCDS45726|CCDS11547" Q8TCT1 12464021 MGI:2447348 RGD:1306182 470878 3.1.3.75 HGNC:16815 "ENST00000310544.9|NM_178500.4" HGNC:28316 PHOSPHO2 phosphatase, orphan 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 MGC22679 HAD Asp-based non-protein phosphatases 1045 2004-12-06 2023-01-20 493911 ENSG00000144362 OTTHUMG00000153981 uc021vsh.2 BC022324 NM_001008489 CCDS33319 Q8TCD6 16054448 MGI:1920623 RGD:1359274 HGNC:28316 "ENST00000359744.8|NM_001008489.4" HGNC:691 PHOX2A paired like homeobox 2A protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "PMX2A|CFEOM2" "ARIX|FEOM2" "aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive|paired-like (aristaless) homeobox 2a|paired like homeobox 2a" PRD class homeoboxes and pseudogenes 521 1995-12-11 2003-02-14 2018-07-16 2023-01-20 401 ENSG00000165462 OTTHUMG00000167899 uc001osh.4 AF022722 NM_005169 CCDS8214 O14813 "8661014|11600883" MGI:106633 RGD:621323 602753 8489 117799 HGNC:691 "ENST00000298231.5|NM_005169.4" HGNC:691 HGNC:9143 PHOX2B paired like homeobox 2B protein-coding gene gene with protein product Approved 4p13 04p13 NBPhox PMX2B "paired mesoderm homeobox 2b|paired like homeobox 2b" PRD class homeoboxes and pseudogenes 521 1999-01-11 2003-02-14 2018-07-16 2023-01-20 8929 ENSG00000109132 OTTHUMG00000099379 uc003gwf.4 D82344 NM_003924 CCDS3463 Q99453 "9039501|10395798" MGI:1100882 RGD:1560582 LRG_513|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_513.xml PHOX2B 603851 8490 117805 HGNC:9143 "ENST00000226382.4|NM_003924.4" HGNC:9143 HGNC:40457 PHOX2B-AS1 PHOX2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p13 04p13 Antisense RNAs 1987 2019-09-19 2019-09-19 105374425 ENSG00000250467 OTTHUMG00000160532 XR_001741668 HGNC:40457 HGNC:30033 PHPT1 phosphohistidine phosphatase 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "PHP14|HSPC141|CGI-202|DKFZp564M173|bA216L13.10" "phosphohistidine phosphatase 14kDa|sex-regulated protein janus-a" Protein phosphatases 703 2004-03-23 2023-01-20 29085 ENSG00000054148 OTTHUMG00000020950 uc004cjq.6 AF131857 NM_014172 "CCDS48060|CCDS7009" Q9NRX4 "11042152|8619474" MGI:1922704 RGD:1311355 610167 3.1.3.- HGNC:30033 "ENST00000247665.12|NM_014172.6" -HGNC:24351 PHRF1 PHD and ring finger domains 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "KIAA1542|PPP1R125" "CTD binding SR like protein rA9|protein phosphatase 1, regulatory subunit 125" RNF221 "Ring finger proteins|PHD finger proteins|Protein phosphatase 1 regulatory subunits" "58|88|694" 2008-08-14 2023-01-20 57661 ENSG00000070047 OTTHUMG00000165141 uc010qwc.4 BC004950 NM_020901 "CCDS65988|CCDS44507|CCDS65987|CCDS65989" Q9P1Y6 MGI:2141847 RGD:708360 611780 HGNC:24351 "ENST00000264555.10|NM_001286581.2" +HGNC:24351 PHRF1 PHD and ring finger domains 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "KIAA1542|PPP1R125" "CTD binding SR like protein rA9|protein phosphatase 1, regulatory subunit 125" RNF221 "Ring finger proteins|PHD finger proteins|Protein phosphatase 1 regulatory subunits" "58|88|694" 2008-08-14 2023-01-20 57661 ENSG00000070047 OTTHUMG00000165141 uc010qwc.4 BC004950 NM_020901 "CCDS44507|CCDS65989|CCDS65988|CCDS65987" Q9P1Y6 MGI:2141847 RGD:708360 611780 HGNC:24351 "ENST00000264555.10|NM_001286581.2" HGNC:8939 PHTF1 putative homeodomain transcription factor 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 PHTF 1999-03-24 2023-01-20 10745 ENSG00000116793 OTTHUMG00000011800 uc057jno.1 AJ011863 NM_006608 "CCDS861|CCDS81359" Q9UMS5 10395808 MGI:1332671 RGD:620426 604950 HGNC:8939 "ENST00000369604.6|NM_001323043.2" -HGNC:13411 PHTF2 putative homeodomain transcription factor 2 protein-coding gene gene with protein product Approved 7q11.23-q21.11 07q11.23-q21.11 DKFZp434D166 2001-06-25 2023-01-20 57157 ENSG00000006576 OTTHUMG00000155557 uc064ese.1 AL136883 NM_020432 "CCDS47622|CCDS47624|CCDS94134|CCDS94132|CCDS47621|CCDS47623|CCDS94133" Q8N3S3 10729229 MGI:1916020 RGD:1310593 616785 HGNC:13411 +HGNC:13411 PHTF2 putative homeodomain transcription factor 2 protein-coding gene gene with protein product Approved 7q11.23-q21.11 07q11.23-q21.11 DKFZp434D166 2001-06-25 2023-01-20 57157 ENSG00000006576 OTTHUMG00000155557 uc064ese.1 AL136883 NM_020432 "CCDS47624|CCDS47621|CCDS47622|CCDS94134|CCDS94132|CCDS47623|CCDS94133" Q8N3S3 10729229 MGI:1916020 RGD:1310593 616785 HGNC:13411 HGNC:8940 PHYH phytanoyl-CoA 2-hydroxylase protein-coding gene gene with protein product Approved 10p13 10p13 "PAHX|RD|PHYH1" "Refsum disease|phytanoyl-CoA dioxygenase" "phytanoyl-CoA hydroxylase (Refsum disease)|phytanoyl-CoA hydroxylase" 1997-10-27 2006-01-09 2023-01-20 5264 ENSG00000107537 OTTHUMG00000017693 uc001imf.4 NM_001037537 "CCDS41489|CCDS7097" O14832 9326939 MGI:891978 RGD:620317 602026 117810 1.14.11.18 HGNC:8940 "ENST00000263038.9|NM_006214.4" HGNC:8940 -HGNC:23396 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 MGC16638 2003-11-14 2023-01-20 254295 ENSG00000175287 OTTHUMG00000020764 uc004bwo.3 BC051300 NM_174933 "CCDS43885|CCDS6914|CCDS43886" Q5SRE7 21530488 MGI:3612860 RGD:1310377 620042 HGNC:23396 "ENST00000372592.8|NM_001100876.2" +HGNC:23396 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 MGC16638 2003-11-14 2023-01-20 254295 ENSG00000175287 OTTHUMG00000020764 uc004bwo.3 BC051300 NM_174933 "CCDS6914|CCDS43886|CCDS43885" Q5SRE7 21530488 MGI:3612860 RGD:1310377 620042 HGNC:23396 "ENST00000372592.8|NM_001100876.2" HGNC:16865 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "KIAA0273|PAHX-AP" DYRK1AP3 "phytanoyl-CoA hydroxylase interacting protein|DYRK1A interacting protein 3" 2001-11-16 2006-01-09 2023-01-20 9796 ENSG00000168490 OTTHUMG00000163776 uc003xbj.5 D87463 NM_014759 CCDS43723 Q92561 "9039502|10686344" MGI:1860417 RGD:1305790 608511 HGNC:16865 "ENST00000454243.7|NM_014759.5" -HGNC:29378 PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein like protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "KIAA1796|Em:AC025038.1" "phytanoyl-CoA hydroxylase interacting protein-like|phytanoyl-CoA 2-hydroxylase interacting protein-like" Fibronectin type III domain containing 555 2004-04-16 2016-02-01 2023-01-20 84457 ENSG00000165443 OTTHUMG00000018276 uc001jkk.5 AL834339 NM_032439 "CCDS44405|CCDS7254" Q96FC7 11347906 MGI:1918161 RGD:1307967 HGNC:29378 "ENST00000373880.9|NM_032439.4" +HGNC:29378 PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein like protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "KIAA1796|Em:AC025038.1" "phytanoyl-CoA hydroxylase interacting protein-like|phytanoyl-CoA 2-hydroxylase interacting protein-like" Fibronectin type III domain containing 555 2004-04-16 2016-02-01 2023-01-20 84457 ENSG00000165443 OTTHUMG00000018276 uc001jkk.5 AL834339 NM_032439 "CCDS7254|CCDS44405" Q96FC7 11347906 MGI:1918161 RGD:1307967 HGNC:29378 "ENST00000373880.9|NM_032439.4" HGNC:28249 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase protein-coding gene gene with protein product Approved 5q35.3 05q35.3 MGC15875 5-phosphonooxy-L-lysine phospho-lyase AGXT2L2 alanine-glyoxylate aminotransferase 2-like 2 2006-08-11 2013-06-12 2013-06-12 2023-03-15 85007 ENSG00000175309 OTTHUMG00000130892 BC037567 NM_032921 CCDS4434 Q8IUZ5 22241472 MGI:1920197 RGD:2293818 614683 4.2.3.134 HGNC:28249 "ENST00000308158.10|NM_153373.4" HGNC:28249 HGNC:8947 PI3 peptidase inhibitor 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "ESI|SKALP|ELAFIN|WAP3|WFDC14|cementoin" "skin-derived antileukoproteinase|trappin-2" "protease inhibitor 3, skin-derived (SKALP)|peptidase inhibitor 3, skin-derived" WAP four-disulfide core domain containing 361 1993-07-27 2015-12-16 2023-01-20 5266 ENSG00000124102 OTTHUMG00000032567 uc002xng.4 D13156 NM_002638 CCDS13344 P19957 "8287685|12206714" 182257 I17.002 ligandId:12035 HGNC:8947 "ENST00000243924.4|NM_002638.4" HGNC:30031 PI4K2A phosphatidylinositol 4-kinase type 2 alpha protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "PI4KII|DKFZP761G1923|PIK42A" 2007-08-02 2023-01-20 55361 ENSG00000155252 OTTHUMG00000018863 uc001kog.2 AF070611 NM_018425 CCDS7469 Q9BTU6 "11244087|11279162" MGI:1934031 RGD:620485 609763 objectId:2498 HGNC:30031 "ENST00000370631.4|NM_018425.4" @@ -25475,49 +25477,49 @@ HGNC:18215 PI4K2B phosphatidylinositol 4-kinase type 2 beta protein-coding gene HGNC:8983 PI4KA phosphatidylinositol 4-kinase alpha protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "PI4K-ALPHA|pi4K230" "phosphatidylinositol 4-kinase IIIα|phosphatidylinositol 4-kinase III alpha" PIK4CA phosphatidylinositol 4-kinase, catalytic, alpha "Armadillo like helical domain containing|PI4KA lipid kinase complex" "1492|1588" 1998-04-07 2007-08-02 2016-02-23 2023-01-20 5297 ENSG00000241973 OTTHUMG00000167440 uc002zsz.5 L36151 NM_058004 CCDS33603 P42356 "7961848|8662589|29229838" MGI:2448506 RGD:621213 600286 434516 objectId:2148 HGNC:8983 "ENST00000255882.11|NM_058004.4" HGNC:8983 HGNC:33576 PI4KAP1 phosphatidylinositol 4-kinase alpha pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 2007-08-02 2016-02-23 2016-02-23 728233 ENSG00000274602 OTTHUMG00000188354 NR_003563 Q8N8J0 PGOHUM00000297450 HGNC:33576 HGNC:33577 PI4KAP2 phosphatidylinositol 4-kinase alpha pseudogene 2 pseudogene pseudogene Approved 22q11.21 22q11.21 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 2007-08-02 2016-02-23 2023-03-15 375133 ENSG00000183506 OTTHUMG00000150827 NR_003700 A4QPH2 PGOHUM00000259689 HGNC:33577 -HGNC:8984 PI4KB phosphatidylinositol 4-kinase beta protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PI4K-BETA|pi4K92" PIK4CB phosphatidylinositol 4-kinase, catalytic, beta 1998-04-07 2007-08-02 2016-02-23 2023-01-20 5298 ENSG00000143393 OTTHUMG00000012348 uc001exr.4 AB005910 NM_002651 "CCDS55638|CCDS81376|CCDS993|CCDS55637" Q9UBF8 "9020160|9405938" MGI:1334433 RGD:621214 602758 objectId:2149 HGNC:8984 "ENST00000368873.6|NM_001369623.2" +HGNC:8984 PI4KB phosphatidylinositol 4-kinase beta protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PI4K-BETA|pi4K92" PIK4CB phosphatidylinositol 4-kinase, catalytic, beta 1998-04-07 2007-08-02 2016-02-23 2023-01-20 5298 ENSG00000143393 OTTHUMG00000012348 uc001exr.4 AB005910 NM_002651 "CCDS81376|CCDS55638|CCDS993|CCDS55637" Q9UBF8 "9020160|9405938" MGI:1334433 RGD:621214 602758 objectId:2149 HGNC:8984 "ENST00000368873.6|NM_001369623.2" HGNC:8946 PI15 peptidase inhibitor 15 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 P25TI protease inhibitor 15 CAP superfamily 1356 2000-08-11 2005-08-17 2023-01-20 51050 ENSG00000137558 OTTHUMG00000164528 uc003yal.3 D45027 NM_015886 CCDS6218 O43692 "8882727|9473672" MGI:1934659 RGD:1309577 607076 HGNC:8946 "ENST00000260113.7|NM_015886.5" HGNC:21245 PI16 peptidase inhibitor 16 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "MGC45378|dJ90K10.5|MSMBBP|CD364" microseminoprotein, beta-binding protein protease inhibitor 16 "CD molecules|CAP superfamily" "471|1356" 2003-05-29 2005-08-17 2023-01-20 221476 ENSG00000164530 OTTHUMG00000014611 uc021yzd.2 NM_153370 CCDS34440 Q6UXB8 MGI:1921366 RGD:1304760 HGNC:21245 "ENST00000373674.4|NM_153370.3" -HGNC:25338 PIANP PILR alpha associated neural protein protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "DKFZp547D2210|PANP" PILR-associating neural protein C12orf53 chromosome 12 open reading frame 53 2006-01-24 2012-08-17 2012-08-17 2023-01-20 196500 ENSG00000139200 OTTHUMG00000168664 uc001qqf.3 BC035736 NM_153685 "CCDS58205|CCDS44818" Q8IYJ0 12975309 MGI:2441908 RGD:1304952 616065 HGNC:25338 "ENST00000534837.6|NM_001244014.2" -HGNC:2752 PIAS1 protein inhibitor of activated STAT 1 protein-coding gene gene with protein product Approved 15q23 15q23 "GBP|GU/RH-II|ZMIZ3" zinc finger, MIZ-type containing 3 DDXBP1 DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1 Zinc fingers MIZ-type 85 1998-11-06 2002-04-19 2015-11-13 2023-01-20 8554 ENSG00000033800 OTTHUMG00000172645 uc002aqz.4 AF077951 NM_001320687 "CCDS81902|CCDS45290" O75925 "9724754|9177271|19526197" MGI:1913125 RGD:1307843 603566 HGNC:2752 "ENST00000249636.11|NM_016166.3" +HGNC:25338 PIANP PILR alpha associated neural protein protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "DKFZp547D2210|PANP" PILR-associating neural protein C12orf53 chromosome 12 open reading frame 53 2006-01-24 2012-08-17 2012-08-17 2023-01-20 196500 ENSG00000139200 OTTHUMG00000168664 uc001qqf.3 BC035736 NM_153685 "CCDS44818|CCDS58205" Q8IYJ0 12975309 MGI:2441908 RGD:1304952 616065 HGNC:25338 "ENST00000534837.6|NM_001244014.2" +HGNC:2752 PIAS1 protein inhibitor of activated STAT 1 protein-coding gene gene with protein product Approved 15q23 15q23 "GBP|GU/RH-II|ZMIZ3" zinc finger, MIZ-type containing 3 DDXBP1 DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1 Zinc fingers MIZ-type 85 1998-11-06 2002-04-19 2015-11-13 2023-01-20 8554 ENSG00000033800 OTTHUMG00000172645 uc002aqz.4 AF077951 NM_001320687 "CCDS45290|CCDS81902" O75925 "9724754|9177271|19526197" MGI:1913125 RGD:1307843 603566 HGNC:2752 "ENST00000249636.11|NM_016166.3" HGNC:17311 PIAS2 protein inhibitor of activated STAT 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "PIASX-BETA|miz|PIASX-ALPHA|ZMIZ4|ARIP3" zinc finger, MIZ-type containing 4 Zinc fingers MIZ-type 85 2004-06-02 2015-11-13 2023-01-20 9063 ENSG00000078043 OTTHUMG00000179301 uc002lck.4 AF077953 NM_004671 "CCDS32825|CCDS32824" O75928 "9724754|9256341" MGI:1096566 RGD:71056 603567 HGNC:17311 "ENST00000585916.6|NM_004671.5" HGNC:16861 PIAS3 protein inhibitor of activated STAT 3 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "FLJ14651|ZMIZ5" zinc finger, MIZ-type containing 5 "Zinc fingers MIZ-type|MicroRNA protein coding host genes" "85|1691" 2004-06-02 2015-11-13 2023-01-20 10401 ENSG00000131788 OTTHUMG00000013750 uc001eoc.2 AB021868 NM_006099 CCDS72866 Q9Y6X2 10319586 MGI:1913126 RGD:708413 605987 HGNC:16861 "ENST00000393045.7|NM_006099.3" HGNC:17002 PIAS4 protein inhibitor of activated STAT 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Piasg|PIASY|FLJ12419|ZMIZ6" zinc finger, MIZ-type containing 6 Zinc fingers MIZ-type 85 2004-06-02 2015-11-13 2023-01-20 51588 ENSG00000105229 OTTHUMG00000181759 uc002lzg.4 AF077952 NM_015897 CCDS12118 Q8N2W9 9724754 MGI:2136940 RGD:1308737 605989 HGNC:17002 "ENST00000262971.3|NM_015897.4" HGNC:23352 PIBF1 progesterone immunomodulatory binding factor 1 protein-coding gene gene with protein product Approved 13q21.33-q22.1 13q21.33-q22.1 "CEP90|PIBF" progesterone-induced blocking factor 1 C13orf24 chromosome 13 open reading frame 24 2004-04-16 2007-10-17 2007-10-17 2023-01-20 10464 ENSG00000083535 OTTHUMG00000017071 uc001vjc.4 AF330046 NM_006346 CCDS31991 Q8WXW3 11935316 MGI:1261910 RGD:1305077 607532 HGNC:23352 "ENST00000326291.11|NM_006346.4" HGNC:23352 -HGNC:15514 PICALM phosphatidylinositol binding clathrin assembly protein protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "CALM|CLTH" 2001-04-06 2023-01-20 8301 ENSG00000073921 OTTHUMG00000166981 uc001pbm.4 BC048259 NM_007166 "CCDS8272|CCDS91570|CCDS31653|CCDS55783|CCDS55784" Q13492 8643484 MGI:2385902 RGD:621054 PICALM 603025 371077 HGNC:15514 "ENST00000393346.8|NM_007166.4" +HGNC:15514 PICALM phosphatidylinositol binding clathrin assembly protein protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "CALM|CLTH" 2001-04-06 2023-01-20 8301 ENSG00000073921 OTTHUMG00000166981 uc001pbm.4 BC048259 NM_007166 "CCDS55783|CCDS91570|CCDS8272|CCDS31653|CCDS55784" Q13492 8643484 MGI:2385902 RGD:621054 PICALM 603025 371077 HGNC:15514 "ENST00000393346.8|NM_007166.4" HGNC:27576 PICART1 p53 inducible cancer associated RNA transcript 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 p53-inducible cancer-associated RNA transcript 1 Long non-coding RNAs with non-systematic symbols 1992 2018-08-01 2018-08-01 284080 ENSG00000246640 OTTHUMG00000161891 NR_038230 "28339031|29940776" HGNC:27576 HGNC:9394 PICK1 protein interacting with PRKCA 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "dJ1039K5|MGC15204" PRKCABP "protein kinase C, alpha binding protein|protein interacting with PRKCA" "PDZ domain containing|AH domain containing" "1220|1921" 1999-10-19 2006-02-14 2006-02-14 2023-01-20 9463 ENSG00000100151 OTTHUMG00000151159 uc003aus.4 AL049654 NM_012407 CCDS13965 Q9NRD5 "10340301|10591208" MGI:894645 RGD:69437 605926 438982 HGNC:9394 "ENST00000356976.8|NM_012407.4" HGNC:9394 HGNC:19725 PICSAR P38 inhibited cutaneous squamous cell carcinoma associated lincRNA non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "PRED74|NLC1-C" narcolepsy candidate region 1 gene C "C21orf113|NCRNA00162|LINC00162" "chromosome 21 open reading frame 113|non-protein coding RNA 162|long intergenic non-protein coding RNA 162" Long non-coding RNAs with non-systematic symbols 1992 2003-10-02 2016-04-28 2016-04-28 2018-09-07 378825 ENSG00000275874 OTTHUMG00000090292 uc032qby.2 BC027456 NR_024089 "16826516|27049681" 617191 PICSAR HGNC:19725 HGNC:26084 PID1 phosphotyrosine interaction domain containing 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "NYGGF4|FLJ20701" 2007-02-02 2023-01-20 55022 ENSG00000153823 OTTHUMG00000133191 uc002vpu.5 AK096636 NM_017933 "CCDS82578|CCDS2471|CCDS42830|CCDS82577" Q7Z2X4 "17124247|16815647|15221005" MGI:2138391 RGD:1560766 612930 HGNC:26084 "ENST00000392055.8|NM_001100818.2" -HGNC:16491 PIDD1 p53-induced death domain protein 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "MGC16925|DKFZp434D229" "LRDD|PIDD" "leucine-rich repeats and death domain containing|p53-induced death domain protein" 2001-09-04 2014-05-01 2014-05-01 2023-03-15 55367 ENSG00000177595 OTTHUMG00000133306 AF229178 NM_145886 "CCDS44508|CCDS7716" Q9HB75 10825539 MGI:1889507 RGD:1311792 605247 HGNC:16491 "ENST00000347755.10|NM_145886.4" +HGNC:16491 PIDD1 p53-induced death domain protein 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "MGC16925|DKFZp434D229" "LRDD|PIDD" "leucine-rich repeats and death domain containing|p53-induced death domain protein" 2001-09-04 2014-05-01 2014-05-01 2023-03-15 55367 ENSG00000177595 OTTHUMG00000133306 AF229178 NM_145886 "CCDS7716|CCDS44508" Q9HB75 10825539 MGI:1889507 RGD:1311792 605247 HGNC:16491 "ENST00000347755.10|NM_145886.4" HGNC:28435 PIERCE1 piercer of microtubule wall 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MGC29761|RbEST47" p53-induced expression 1 in Rb−/− cells C9orf116 chromosome 9 open reading frame 116 2004-03-25 2021-11-26 2021-11-26 2023-01-20 138162 ENSG00000160345 OTTHUMG00000020902 uc004cft.2 BC021261 NM_144654 "CCDS43899|CCDS6989" Q5BN46 "27305836|28749992|34715025" MGI:1916577 RGD:1306233 614502 HGNC:28435 "ENST00000429260.7|NM_001048265.2" HGNC:44654 PIERCE2 piercer of microtubule wall 2 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 FLJ27352 C15orf65 chromosome 15 open reading frame 65 2013-06-06 2021-11-26 2021-11-26 2023-01-20 145788 ENSG00000261652 OTTHUMG00000172679 NM_001198784 CCDS58363 H3BRN8 34715025 MGI:3648770 RGD:1594626 619669 HGNC:44654 "ENST00000569691.2|NM_001198784.2" HGNC:28993 PIEZO1 piezo type mechanosensitive ion channel component 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 KIAA0233 FAM38A "family with sequence similarity 38, member A|piezo-type mechanosensitive ion channel component 1" MicroRNA protein coding host genes 1691 2004-04-29 2011-08-31 2016-02-01 2023-01-20 9780 ENSG00000103335 OTTHUMG00000156776 uc010vpb.3 D87071 NM_014745 CCDS54058 Q92508 "20813920|21056836|21299953|21696149" MGI:3603204 RGD:1308822 LRG_1137|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1137.xml 611184 303176 objectId:2945 HGNC:28993 "ENST00000301015.14|NM_001142864.4" HGNC:28993 HGNC:16214 PIEZO1P1 piezo type mechanosensitive ion channel component 1 pseudogene 1 pseudogene pseudogene Approved 20q13.32 20q13.32 bA164D18.1 "C20orf83|FAM38CP" "chromosome 20 open reading frame 83|family with sequence similarity 38, member C, pseudogene|piezo-type mechanosensitive ion channel component 1 pseudogene 1" 2001-07-17 2011-08-31 2016-02-01 2020-04-20 128615 ENSG00000233686 OTTHUMG00000032868 AL389889 NG_011695 PGOHUM00000247569 HGNC:16214 HGNC:42861 PIEZO1P2 piezo type mechanosensitive ion channel component 1 pseudogene 2 pseudogene pseudogene Approved 20q13.32 20q13.32 piezo-type mechanosensitive ion channel component 1 pseudogene 2 2011-08-31 2016-02-01 2016-11-08 100874493 ENSG00000237121 OTTHUMG00000032850 NG_032531 PGOHUM00000297028 HGNC:42861 -HGNC:26270 PIEZO2 piezo type mechanosensitive ion channel component 2 protein-coding gene gene with protein product Approved 18p11.22-p11.21 18p11.22-p11.21 "FLJ23403|FLJ23144|HsT748|HsT771|FLJ34907" "FAM38B2|C18orf30|C18orf58|FAM38B" "chromosome 18 open reading frame 30|chromosome 18 open reading frame 58|family with sequence similarity 38, member B|piezo-type mechanosensitive ion channel component 2" "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2004-04-29 2011-08-31 2016-02-01 2023-01-20 63895 ENSG00000154864 OTTHUMG00000178507 uc002kos.3 AK027056 NM_022068 "CCDS92435|CCDS92436|CCDS11850" Q9H5I5 "20813920|21056836|21299953" MGI:1918781 RGD:1582973 613629 332055 objectId:2946 HGNC:26270 "ENST00000674853.1|NM_001378183.1" HGNC:26270 +HGNC:26270 PIEZO2 piezo type mechanosensitive ion channel component 2 protein-coding gene gene with protein product Approved 18p11.22-p11.21 18p11.22-p11.21 "FLJ23403|FLJ23144|HsT748|HsT771|FLJ34907" "FAM38B2|C18orf30|C18orf58|FAM38B" "chromosome 18 open reading frame 30|chromosome 18 open reading frame 58|family with sequence similarity 38, member B|piezo-type mechanosensitive ion channel component 2" "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2004-04-29 2011-08-31 2016-02-01 2023-01-20 63895 ENSG00000154864 OTTHUMG00000178507 uc002kos.3 AK027056 NM_022068 "CCDS92436|CCDS92435|CCDS11850" Q9H5I5 "20813920|21056836|21299953" MGI:1918781 RGD:1582973 613629 332055 objectId:2946 HGNC:26270 "ENST00000674853.1|NM_001378183.1" HGNC:26270 HGNC:26220 PIF1 PIF1 5'-to-3' DNA helicase protein-coding gene gene with protein product Approved 15q22.31 15q22.31 FLJ22692 C15orf20 "chromosome 15 open reading frame 20|PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)" DNA helicases 1167 2004-02-23 2006-11-24 2013-05-13 2023-01-20 80119 ENSG00000140451 OTTHUMG00000132974 uc002ant.4 AK026345 NM_025049 "CCDS66797|CCDS10195" Q9H611 "10926538|16522649" MGI:2143057 RGD:1586053 610953 470880 3.6.4.12 HGNC:26220 "ENST00000559239.2|NM_001286496.2" -HGNC:8957 PIGA phosphatidylinositol glycan anchor biosynthesis class A protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "GPI3|PIG-A" "paroxysmal nocturnal hemoglobinuria|Phosphatidylinositol N-acetylglucosaminyltransferase subunit A|GPI3 (SPT14) homolog (S. cerevisiae)" phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) "Glycosyl transferases group 1 domain containing|Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex" "427|680|2223" 1993-10-28 2015-11-06 2023-01-20 5277 ENSG00000165195 OTTHUMG00000021174 uc004cwr.5 BC038236 NM_002641 "CCDS14165|CCDS48086" P37287 "7680492|8500164|22305531" MGI:99461 RGD:1589723 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PIGA|LRG_160|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_160.xml" 311770 231527 2.4.1.198 HGNC:8957 "ENST00000333590.6|NM_002641.4" HGNC:8957 +HGNC:8957 PIGA phosphatidylinositol glycan anchor biosynthesis class A protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "GPI3|PIG-A" "paroxysmal nocturnal hemoglobinuria|Phosphatidylinositol N-acetylglucosaminyltransferase subunit A|GPI3 (SPT14) homolog (S. cerevisiae)" phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) "Glycosyl transferases group 1 domain containing|Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex" "427|680|2223" 1993-10-28 2015-11-06 2023-01-20 5277 ENSG00000165195 OTTHUMG00000021174 uc004cwr.5 BC038236 NM_002641 "CCDS48086|CCDS14165" P37287 "7680492|8500164|22305531" MGI:99461 RGD:1589723 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PIGA|LRG_160|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_160.xml" 311770 231527 2.4.1.198 HGNC:8957 "ENST00000333590.6|NM_002641.4" HGNC:8957 HGNC:8958 PIGAP1 phosphatidylinositol glycan anchor biosynthesis class A pseudogene 1 pseudogene pseudogene Approved 12q23.1 12q23.1 1994-12-13 2015-11-06 2020-04-07 5278 ENSG00000257803 OTTHUMG00000170440 X77457 NG_001174 8081362 PGOHUM00000291781 HGNC:8958 HGNC:8959 PIGB phosphatidylinositol glycan anchor biosynthesis class B protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "PIG-B|GPI-MT-III" "GPI mannosyltransferase 3|dol-P-Man dependent GPI mannosyltransferase III" phosphatidylinositol glycan, class B "Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis" "430|680" 1999-04-15 2015-11-06 2023-01-20 9488 ENSG00000069943 OTTHUMG00000172654 uc002act.4 D42138 NM_004855 CCDS61641 Q92521 "8861954|31256876" MGI:1891825 RGD:1307251 604122 HGNC:8959 "ENST00000164305.10|NM_004855.5" HGNC:8959 HGNC:50696 PIGBOS1 PIGB opposite strand 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 2014-06-09 2023-01-20 101928527 ENSG00000225973 OTTHUMG00000172653 NM_001308421 CCDS81884 A0A0B4J2F0 MGI:1913614 RGD:6502569 618809 HGNC:50696 "ENST00000436697.3|NM_001308421.2" HGNC:8960 PIGC phosphatidylinositol glycan anchor biosynthesis class C protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "PIG-C|GPI2" phosphatidylinositol N-acetylglucosaminyltransferase subunit C phosphatidylinositol glycan, class C "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex" "680|2223" 1997-04-16 2015-11-06 2023-01-20 5279 ENSG00000135845 OTTHUMG00000034751 uc021pey.2 BC006539 NM_153747 CCDS1302 Q92535 "8806613|9325057|27694521" MGI:1914542 RGD:1311337 601730 2.4.1.198 HGNC:8960 "ENST00000344529.5|NM_153747.2" HGNC:8960 HGNC:8961 PIGCP1 phosphatidylinositol glycan anchor biosynthesis class C pseudogene 1 pseudogene pseudogene Approved 11p13 11p13 1997-04-16 2015-11-06 2015-11-06 5280 ENSG00000213713 NG_001175 9325057 PGOHUM00000242204 HGNC:8961 HGNC:45149 PIGCP2 phosphatidylinositol glycan anchor biosynthesis class C pseudogene 2 pseudogene pseudogene Approved 7q31.1 07q31.1 2013-02-25 2015-11-06 2015-11-06 100128307 ENSG00000229626 OTTHUMG00000154814 NG_022571 PGOHUM00000233522 HGNC:45149 -HGNC:8962 PIGF phosphatidylinositol glycan anchor biosynthesis class F protein-coding gene gene with protein product Approved 2p21 02p21 PIG-F phosphatidylinositol glycan, class F Phosphatidylinositol glycan anchor biosynthesis 680 1993-10-28 2015-11-06 2023-01-20 5281 ENSG00000151665 OTTHUMG00000128816 uc002rvd.4 NM_173074 "CCDS1827|CCDS1828" Q07326 "8575782|8463218|33386993" MGI:99462 RGD:1584658 600153 HGNC:8962 "ENST00000281382.11|NM_002643.4" +HGNC:8962 PIGF phosphatidylinositol glycan anchor biosynthesis class F protein-coding gene gene with protein product Approved 2p21 02p21 PIG-F phosphatidylinositol glycan, class F Phosphatidylinositol glycan anchor biosynthesis 680 1993-10-28 2015-11-06 2023-01-20 5281 ENSG00000151665 OTTHUMG00000128816 uc002rvd.4 NM_173074 "CCDS1828|CCDS1827" Q07326 "8575782|8463218|33386993" MGI:99462 RGD:1584658 600153 HGNC:8962 "ENST00000281382.11|NM_002643.4" HGNC:8963 PIGFP1 phosphatidylinositol glycan anchor biosynthesis class F pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 psi PIGF 1996-12-20 2015-11-06 2022-11-01 5282 ENSG00000253869 OTTHUMG00000163582 D49727 NG_001176 8575782 PGOHUM00000235862 HGNC:8963 HGNC:45150 PIGFP2 phosphatidylinositol glycan anchor biosynthesis class F pseudogene 2 pseudogene pseudogene Approved 9q33.3 09q33.3 2013-02-25 2015-11-06 2015-11-06 100422349 ENSG00000234881 OTTHUMG00000020642 NG_023955 PGOHUM00000236769 HGNC:45150 HGNC:45151 PIGFP3 phosphatidylinositol glycan anchor biosynthesis class F pseudogene 3 pseudogene pseudogene Approved Xp21.2 Xp21.2 2013-02-25 2015-11-06 2015-11-06 100129049 ENSG00000227592 OTTHUMG00000021318 NG_022588 PGOHUM00000241225 HGNC:45151 -HGNC:25985 PIGG phosphatidylinositol glycan anchor biosynthesis class G protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ20265|GPI7|LAS21" "GPI ethanolamine phosphate transferase 2|LAS21 (GPI7) homolog (S. cerevisiae)" phosphatidylinositol glycan, class G Phosphatidylinositol glycan anchor biosynthesis 680 2006-02-08 2015-11-06 2023-01-20 54872 ENSG00000174227 OTTHUMG00000112457 uc003gaj.6 NM_017733 "CCDS75080|CCDS75083|CCDS75082|CCDS46992|CCDS75081|CCDS3336" Q5H8A4 "15632136|26996948" MGI:3576484 RGD:1560335 616918 HGNC:25985 "ENST00000453061.7|NM_001127178.3" HGNC:25985 -HGNC:8964 PIGH phosphatidylinositol glycan anchor biosynthesis class H protein-coding gene gene with protein product Approved 14q24.1 14q24.1 GPI-H phosphatidylinositol N-acetylglucosaminyltransferase subunit H phosphatidylinositol glycan, class H "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex" "680|2223" 1994-09-06 2015-11-06 2023-01-20 5283 ENSG00000100564 OTTHUMG00000171806 uc001xjr.2 NM_004569 "CCDS9784|CCDS86403" Q14442 "8204896|29573052|29603516" MGI:99463 RGD:1311438 600154 2.4.1.198 HGNC:8964 "ENST00000216452.9|NM_004569.5" HGNC:8964 +HGNC:25985 PIGG phosphatidylinositol glycan anchor biosynthesis class G protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ20265|GPI7|LAS21" "GPI ethanolamine phosphate transferase 2|LAS21 (GPI7) homolog (S. cerevisiae)" phosphatidylinositol glycan, class G Phosphatidylinositol glycan anchor biosynthesis 680 2006-02-08 2015-11-06 2023-01-20 54872 ENSG00000174227 OTTHUMG00000112457 uc003gaj.6 NM_017733 "CCDS75081|CCDS75080|CCDS3336|CCDS46992|CCDS75083|CCDS75082" Q5H8A4 "15632136|26996948" MGI:3576484 RGD:1560335 616918 HGNC:25985 "ENST00000453061.7|NM_001127178.3" HGNC:25985 +HGNC:8964 PIGH phosphatidylinositol glycan anchor biosynthesis class H protein-coding gene gene with protein product Approved 14q24.1 14q24.1 GPI-H phosphatidylinositol N-acetylglucosaminyltransferase subunit H phosphatidylinositol glycan, class H "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex" "680|2223" 1994-09-06 2015-11-06 2023-01-20 5283 ENSG00000100564 OTTHUMG00000171806 uc001xjr.2 NM_004569 "CCDS86403|CCDS9784" Q14442 "8204896|29573052|29603516" MGI:99463 RGD:1311438 600154 2.4.1.198 HGNC:8964 "ENST00000216452.9|NM_004569.5" HGNC:8964 HGNC:45152 PIGHP1 phosphatidylinositol glycan anchor biosynthesis class H pseudogene 1 pseudogene pseudogene Approved 15q22.2 15q22.2 2013-02-25 2015-11-06 2015-11-06 644761 ENSG00000259657 OTTHUMG00000171924 NG_022130 PGOHUM00000247136 HGNC:45152 HGNC:8965 PIGK phosphatidylinositol glycan anchor biosynthesis class K protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "hGPI8|GPI8|PIG-K" "GPI transamidase subunit|GPI-anchor transamidase|GPI8 homolog (S. cerevisiae)" phosphatidylinositol glycan, class K "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol transamidase complex" "680|1951" 1999-05-17 2015-11-06 2023-01-20 10026 ENSG00000142892 OTTHUMG00000009686 uc001dhk.4 AF022913 NM_005482 CCDS674 Q92643 "9356492|32220290" MGI:1913863 RGD:1306753 605087 HGNC:8965 "ENST00000370812.8|NM_005482.3" HGNC:8965 -HGNC:8966 PIGL phosphatidylinositol glycan anchor biosynthesis class L protein-coding gene gene with protein product Approved 17p11.2 17p11.2 PIG-L "N-acetylglucosaminylphosphatidylinositol deacetylase|N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase" phosphatidylinositol glycan, class L "Phosphatidylinositol glycan anchor biosynthesis|MicroRNA protein coding host genes" "680|1691" 1999-04-15 2015-11-06 2023-01-20 9487 ENSG00000108474 OTTHUMG00000059346 uc002gpv.4 AB017165 NM_001411072 "CCDS11176|CCDS92263" Q9Y2B2 "10085243|22444671" MGI:2681271 RGD:620437 605947 299636 3.5.1.89 HGNC:8966 "ENST00000225609.10|NM_004278.4" HGNC:8966 +HGNC:8966 PIGL phosphatidylinositol glycan anchor biosynthesis class L protein-coding gene gene with protein product Approved 17p11.2 17p11.2 PIG-L "N-acetylglucosaminylphosphatidylinositol deacetylase|N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase" phosphatidylinositol glycan, class L "Phosphatidylinositol glycan anchor biosynthesis|MicroRNA protein coding host genes" "680|1691" 1999-04-15 2015-11-06 2023-01-20 9487 ENSG00000108474 OTTHUMG00000059346 uc002gpv.4 AB017165 NM_001411072 "CCDS92263|CCDS11176" Q9Y2B2 "10085243|22444671" MGI:2681271 RGD:620437 605947 299636 3.5.1.89 HGNC:8966 "ENST00000225609.10|NM_004278.4" HGNC:8966 HGNC:18858 PIGM phosphatidylinositol glycan anchor biosynthesis class M protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "GPI-MT-I|PIG-M" "GPI mannosyltransferase 1|DPM:GlcN-(acyl-)PI mannosyltransferase|dol-P-Man dependent GPI mannosyltransferase" phosphatidylinositol glycan, class M "Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis" "430|680" 2002-07-05 2015-11-06 2023-01-20 93183 ENSG00000143315 OTTHUMG00000024081 uc001fuv.2 AB028127 NM_145167 CCDS1192 Q9H3S5 "11226175|16767100" MGI:1914806 RGD:71041 610273 117818 HGNC:18858 "ENST00000368090.5|NM_145167.3" HGNC:18858 HGNC:8967 PIGN phosphatidylinositol glycan anchor biosynthesis class N protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "MCD4|PIG-N" GPI ethanolamine phosphate transferase 1 phosphatidylinositol glycan, class N Phosphatidylinositol glycan anchor biosynthesis 680 2000-05-11 2015-11-06 2023-01-20 23556 ENSG00000197563 OTTHUMG00000180098 uc021ulb.3 AF109219 NM_176787 CCDS45879 O95427 "10069808|10574991|21493957" MGI:1351629 RGD:1311346 606097 280636 HGNC:8967 "ENST00000640252.2|NM_176787.5" HGNC:8967 HGNC:23215 PIGO phosphatidylinositol glycan anchor biosynthesis class O protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "DKFZp434M222|FLJ00135|PIG-O" phosphatidylinositol glycan, class O Phosphatidylinositol glycan anchor biosynthesis 680 2003-10-14 2015-11-06 2023-01-20 84720 ENSG00000165282 OTTHUMG00000019854 uc003zwf.4 AB083625 NM_032634 "CCDS6576|CCDS6575" Q8TEQ8 "10781593|28337824" MGI:1861452 RGD:1309498 614730 304648 HGNC:23215 "ENST00000378617.4|NM_032634.4" HGNC:23215 HGNC:55692 PIGO-AS1 PIGO antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p13.3 09p13.3 Antisense RNAs 1987 2021-07-05 2021-07-05 121847984 ENSG00000234181 -HGNC:3046 PIGP phosphatidylinositol glycan anchor biosynthesis class P protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "DCRC|DSRC" phosphatidylinositol-n-acetylglucosaminyltranferase subunit P DSCR5 "Down syndrome critical region gene 5|phosphatidylinositol glycan, class P" "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex" "680|2223" 2000-05-25 2005-11-10 2015-11-06 2023-01-20 51227 ENSG00000185808 OTTHUMG00000086653 uc002yvx.2 AB037162 NM_153681 "CCDS82670|CCDS13649|CCDS13650" P57054 "10814524|15221505|28334793" MGI:1860433 RGD:1307205 605938 2.4.1.198 HGNC:3046 "ENST00000360525.9|NM_153682.3" HGNC:3046 +HGNC:3046 PIGP phosphatidylinositol glycan anchor biosynthesis class P protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "DCRC|DSRC" phosphatidylinositol-n-acetylglucosaminyltranferase subunit P DSCR5 "Down syndrome critical region gene 5|phosphatidylinositol glycan, class P" "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex" "680|2223" 2000-05-25 2005-11-10 2015-11-06 2023-01-20 51227 ENSG00000185808 OTTHUMG00000086653 uc002yvx.2 AB037162 NM_153681 "CCDS13650|CCDS82670|CCDS13649" P57054 "10814524|15221505|28334793" MGI:1860433 RGD:1307205 605938 2.4.1.198 HGNC:3046 "ENST00000360525.9|NM_153682.3" HGNC:3046 HGNC:45153 PIGPP1 phosphatidylinositol glycan anchor biosynthesis class P pseudogene 1 pseudogene pseudogene Approved 2p15 02p15 2013-02-25 2015-11-06 2015-11-06 112214169 NG_066003 PGOHUM00000240662 HGNC:45153 HGNC:45154 PIGPP2 phosphatidylinositol glycan anchor biosynthesis class P pseudogene 2 pseudogene pseudogene Approved 1p31.3 01p31.3 2013-02-25 2015-11-06 2015-11-06 106479056 ENSG00000234204 OTTHUMG00000008913 NG_044547 PGOHUM00000244740 HGNC:45154 HGNC:45155 PIGPP3 phosphatidylinositol glycan anchor biosynthesis class P pseudogene 3 pseudogene pseudogene Approved 20q11.22 20q11.22 2013-02-25 2015-11-06 2015-11-06 100128033 ENSG00000228958 OTTHUMG00000032280 NG_030237 PGOHUM00000247644 HGNC:45155 @@ -25526,10 +25528,10 @@ HGNC:14135 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q protein- HGNC:45157 PIGQP1 phosphatidylinositol glycan anchor biosynthesis class Q pseudogene 1 pseudogene pseudogene Approved 1p32.2 01p32.2 2013-02-25 2015-11-06 2016-11-08 106480812 ENSG00000227104 OTTHUMG00000129005 NG_044258 PGOHUM00000244039 HGNC:45157 HGNC:8968 PIGR polymeric immunoglobulin receptor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 V-set domain containing 590 1989-06-06 2023-01-20 5284 ENSG00000162896 OTTHUMG00000036581 uc001hez.4 NM_002644 CCDS1474 P01833 MGI:103080 RGD:3328 173880 HGNC:8968 "ENST00000356495.5|NM_002644.4" HGNC:14937 PIGS phosphatidylinositol glycan anchor biosynthesis class S protein-coding gene gene with protein product Approved 17q11.2 17q11.2 PIG-S "GPI transamidase subunit|GPI transamidase component PIG-S" phosphatidylinositol glycan, class S "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol transamidase complex" "680|1951" 2001-03-27 2015-11-06 2023-01-20 94005 ENSG00000087111 OTTHUMG00000132604 uc002hbo.3 NM_033198 CCDS11235 Q96S52 11483512 MGI:2687325 RGD:1359436 610271 HGNC:14937 "ENST00000308360.8|NM_033198.4" HGNC:14937 -HGNC:14938 PIGT phosphatidylinositol glycan anchor biosynthesis class T protein-coding gene gene with protein product Approved 20q13.12 20q13.12 PIG-T "GPI transamidase subunit|GPI transamidase component PIG-T" phosphatidylinositol glycan, class T "Phosphatidylinositol glycan anchor biosynthesis|MicroRNA protein coding host genes|Glycosylphosphatidylinositol transamidase complex" "680|1691|1951" 2001-03-27 2015-11-06 2023-01-20 51604 ENSG00000124155 OTTHUMG00000032574 uc002xoh.4 NM_015937 "CCDS54464|CCDS54465|CCDS13353|CCDS54466" Q969N2 "15713669|23636107|24906948" MGI:1926178 RGD:1307156 610272 371358 HGNC:14938 "ENST00000279036.12|NM_015937.6" HGNC:14938 +HGNC:14938 PIGT phosphatidylinositol glycan anchor biosynthesis class T protein-coding gene gene with protein product Approved 20q13.12 20q13.12 PIG-T "GPI transamidase subunit|GPI transamidase component PIG-T" phosphatidylinositol glycan, class T "Phosphatidylinositol glycan anchor biosynthesis|MicroRNA protein coding host genes|Glycosylphosphatidylinositol transamidase complex" "680|1691|1951" 2001-03-27 2015-11-06 2023-01-20 51604 ENSG00000124155 OTTHUMG00000032574 uc002xoh.4 NM_015937 "CCDS13353|CCDS54466|CCDS54464|CCDS54465" Q969N2 "15713669|23636107|24906948" MGI:1926178 RGD:1307156 610272 371358 HGNC:14938 "ENST00000279036.12|NM_015937.6" HGNC:14938 HGNC:15791 PIGU phosphatidylinositol glycan anchor biosynthesis class U protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "bA346K17.2|GAB1|PIG-U" "GPI transamidase subunit PIGU|GPI and Actin Bar homolog (S. cerevisiae)" CDC91L1 "CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1|CDC91 cell division cycle 91-like 1 (S. cerevisiae)" "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol transamidase complex" "680|1951" 2001-09-17 2006-11-07 2015-11-06 2023-01-20 128869 ENSG00000101464 OTTHUMG00000032304 uc002xas.4 AL118520 NM_080476 CCDS13239 Q9H490 "12802054|15034568|31353022" MGI:3039607 RGD:727825 608528 HGNC:15791 "ENST00000217446.8|NM_080476.5" HGNC:15791 HGNC:45158 PIGUP1 phosphatidylinositol glycan anchor biosynthesis class U pseudogene 1 pseudogene pseudogene Approved 9q21.12 09q21.12 2013-02-25 2015-11-06 2015-11-06 100422342 ENSG00000224437 OTTHUMG00000019996 NG_023833 PGOHUM00000236205 HGNC:45158 -HGNC:26031 PIGV phosphatidylinositol glycan anchor biosynthesis class V protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FLJ20477|PIG-V|GPI-MT-II" "GPI mannosyltransferase 2|dol-P-Man dependent GPI mannosyltransferase II" phosphatidylinositol glycan, class V "Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis" "430|680" 2005-01-10 2015-11-06 2023-01-20 55650 ENSG00000060642 OTTHUMG00000004005 uc001bmz.4 AK000484 NM_017837 "CCDS90893|CCDS90894|CCDS90892|CCDS287" Q9NUD9 15623507 MGI:2442480 RGD:1309526 610274 251503 HGNC:26031 "ENST00000674202.1|NM_017837.4" HGNC:26031 +HGNC:26031 PIGV phosphatidylinositol glycan anchor biosynthesis class V protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FLJ20477|PIG-V|GPI-MT-II" "GPI mannosyltransferase 2|dol-P-Man dependent GPI mannosyltransferase II" phosphatidylinositol glycan, class V "Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis" "430|680" 2005-01-10 2015-11-06 2023-01-20 55650 ENSG00000060642 OTTHUMG00000004005 uc001bmz.4 AK000484 NM_017837 "CCDS287|CCDS90894|CCDS90892|CCDS90893" Q9NUD9 15623507 MGI:2442480 RGD:1309526 610274 251503 HGNC:26031 "ENST00000674202.1|NM_017837.4" HGNC:26031 HGNC:23213 PIGW phosphatidylinositol glycan anchor biosynthesis class W protein-coding gene gene with protein product Approved 17q12 17q12 "Gwt1|FLJ37433|PIG-W" GPI-anchored wall protein transfer 1 homolog (S. cerevisiae) phosphatidylinositol glycan, class W Phosphatidylinositol glycan anchor biosynthesis 680 2003-10-14 2015-11-06 2023-01-20 284098 ENSG00000277161 OTTHUMG00000188438 uc284orh.1 AB097818 NM_178517 CCDS11313 Q7Z7B1 "14517336|12714589|32198969" MGI:1917575 RGD:727962 610275 400438 HGNC:23213 "ENST00000614443.2|NM_001346754.2" HGNC:23213 HGNC:26046 PIGX phosphatidylinositol glycan anchor biosynthesis class X protein-coding gene gene with protein product Approved 3q29 03q29 "FLJ20522|PIG-X" phosphatidylinositol glycan, class X Phosphatidylinositol glycan anchor biosynthesis 680 2005-01-10 2015-11-06 2023-01-20 54965 ENSG00000163964 OTTHUMG00000155535 uc003fwx.6 AK000529 NM_017861 "CCDS3320|CCDS54701" Q8TBF5 15635094 MGI:1919334 RGD:1307289 610276 HGNC:26046 "ENST00000392391.9|NM_017861.4" HGNC:28213 PIGY phosphatidylinositol glycan anchor biosynthesis class Y protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "MGC14156|PIG-Y" Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y phosphatidylinositol glycan, class Y "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex" "680|2223" 2006-01-31 2015-11-06 2023-01-20 84992 ENSG00000255072 OTTHUMG00000166563 uc062ydg.1 AB206972 NM_001042616 CCDS54778 Q3MUY2 "16162815|26293662" MGI:1913518 RGD:2318067 610662 449642 HGNC:28213 "ENST00000527353.2|NM_001042616.3" HGNC:28213 @@ -25545,27 +25547,27 @@ HGNC:8974 PIK3C3 phosphatidylinositol 3-kinase catalytic subunit type 3 protein- HGNC:8975 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha protein-coding gene gene with protein product Approved 3q26.32 03q26.32 PI3K "phosphoinositide-3-kinase, catalytic, alpha polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha" Phosphatidylinositol 3-kinase subunits 831 1994-07-15 2015-11-17 2023-01-20 5290 ENSG00000121879 OTTHUMG00000157311 uc003fjk.4 NM_006218 CCDS43171 P42336 1322797 MGI:1206581 RGD:620916 LRG_310|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_310.xml PIK3CA 171834 117820 objectId:2153 2.7.1.153 HGNC:8975 "ENST00000263967.4|NM_006218.4" HGNC:8975 HGNC:52932 PIK3CA-DT PIK3CA divergent transcript non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 Divergent transcripts 1990 2021-07-28 2021-07-28 101928739 ENSG00000229102 OTTHUMG00000157310 NR_125401 HGNC:8976 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta protein-coding gene gene with protein product Approved 3q22.3 03q22.3 PIK3C1 "phosphoinositide-3-kinase, catalytic, beta polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta" Phosphatidylinositol 3-kinase subunits 831 1992-12-18 2015-11-17 2023-01-20 5291 ENSG00000051382 OTTHUMG00000159893 uc062ohd.1 NM_001256045 CCDS3104 P42338 8246984 MGI:1922019 RGD:620917 PIK3CB 602925 objectId:2154 2.7.1.153 HGNC:8976 "ENST00000674063.1|NM_006219.3" -HGNC:8977 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta protein-coding gene gene with protein product Approved 1p36.22 01p36.22 p110D "phosphatidylinositol 3-kinase, catalytic, delta polypeptide|phosphoinositide-3-kinase C" "phosphoinositide-3-kinase, catalytic, delta polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta" Phosphatidylinositol 3-kinase subunits 831 1997-06-12 2015-11-17 2023-01-20 5293 ENSG00000171608 OTTHUMG00000001450 uc001aqb.5 NM_005026 "CCDS90856|CCDS104" O00329 "9113989|9455486" MGI:1098211 RGD:1310990 LRG_191|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_191.xml 602839 400623 objectId:2155 2.7.1.153 HGNC:8977 "ENST00000377346.9|NM_005026.5" HGNC:8977 +HGNC:8977 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta protein-coding gene gene with protein product Approved 1p36.22 01p36.22 p110D "phosphatidylinositol 3-kinase, catalytic, delta polypeptide|phosphoinositide-3-kinase C" "phosphoinositide-3-kinase, catalytic, delta polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta" Phosphatidylinositol 3-kinase subunits 831 1997-06-12 2015-11-17 2023-01-20 5293 ENSG00000171608 OTTHUMG00000001450 uc001aqb.5 NM_005026 "CCDS104|CCDS90856" O00329 "9113989|9455486" MGI:1098211 RGD:1310990 LRG_191|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_191.xml 602839 400623 objectId:2155 2.7.1.153 HGNC:8977 "ENST00000377346.9|NM_005026.5" HGNC:8977 HGNC:32346 PIK3CD-AS1 PIK3CD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 C1orf200 chromosome 1 open reading frame 200 Antisense RNAs 1987 2007-08-02 2014-10-08 2014-10-08 2014-11-19 644997 ENSG00000179840 OTTHUMG00000001452 BC016063 NR_027045 Q5SR53 PIK3CD-AS1 HGNC:32346 HGNC:51334 PIK3CD-AS2 PIK3CD antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 Antisense RNAs 1987 2014-10-08 2014-10-08 101929074 ENSG00000231789 OTTHUMG00000001449 "AL523099|BI763597|BP394863" NR_126366 PIK3CD-AS2 HGNC:51334 HGNC:52629 PIK3CDP1 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta pseudogene 1 pseudogene pseudogene Approved 2p25.2 02p25.2 2016-11-16 2016-11-16 391349 ENSG00000231610 OTTHUMG00000151459 NG_021492 PGOHUM00000297790 HGNC:52629 HGNC:8978 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "phosphoinositide-3-kinase, catalytic, gamma polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma" Phosphatidylinositol 3-kinase subunits 831 1994-07-15 2015-11-17 2023-01-20 5294 ENSG00000105851 OTTHUMG00000157641 uc003vdu.5 NM_001282426 CCDS5739 P48736 MGI:1353576 RGD:1306468 601232 objectId:2156 2.7.1.153 HGNC:8978 "ENST00000496166.6|NM_001282426.2" HGNC:24942 PIK3IP1 phosphoinositide-3-kinase interacting protein 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "HGFL|MGC17330|TrIP" transmembrane inhibitor of PI3K 2007-04-13 2023-01-20 113791 ENSG00000100100 OTTHUMG00000151256 uc003akm.4 BC011049 NM_052880 "CCDS46690|CCDS13893" Q96FE7 17475214 MGI:1917016 RGD:1311203 619158 HGNC:24942 "ENST00000215912.10|NM_052880.5" HGNC:41072 PIK3IP1-DT PIK3IP1 divergent transcript non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 PIK3IP1-AS1 PIK3IP1 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-08-08 2020-01-15 2020-01-15 2020-01-15 101929760 ENSG00000228839 OTTHUMG00000151249 BF439736 NR_110542 PIK3IP1-AS1 HGNC:41072 -HGNC:8979 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 protein-coding gene gene with protein product Approved 5q13.1 05q13.1 "GRB1|p85-ALPHA|p85|p85alpha" "phosphoinositide-3-kinase regulatory subunit alpha|growth factor receptor bound 1|PI3 kinase-associated p85" phosphoinositide-3-kinase, regulatory subunit 1 (alpha) SH2 domain containing 741 1992-12-08 2015-11-17 2023-01-20 5295 ENSG00000145675 OTTHUMG00000131251 uc003jva.4 M61906 NM_181504 "CCDS3995|CCDS3994|CCDS3993|CCDS56374" P27986 "1314371|18387942|1849461|23810378" MGI:97583 RGD:3329 "SH2base: Database for pathogenic SH2 domain mutations|http://structure.bmc.lu.se/idbase/SH2base/|LRG_453|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_453.xml" PIK3R1 171833 352217 objectId:2503 HGNC:8979 "ENST00000521381.6|NM_181523.3" HGNC:8979 +HGNC:8979 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 protein-coding gene gene with protein product Approved 5q13.1 05q13.1 "GRB1|p85-ALPHA|p85|p85alpha" "phosphoinositide-3-kinase regulatory subunit alpha|growth factor receptor bound 1|PI3 kinase-associated p85" phosphoinositide-3-kinase, regulatory subunit 1 (alpha) SH2 domain containing 741 1992-12-08 2015-11-17 2023-01-20 5295 ENSG00000145675 OTTHUMG00000131251 uc003jva.4 M61906 NM_181504 "CCDS3993|CCDS56374|CCDS3995|CCDS3994" P27986 "1314371|18387942|1849461|23810378" MGI:97583 RGD:3329 "SH2base: Database for pathogenic SH2 domain mutations|http://structure.bmc.lu.se/idbase/SH2base/|LRG_453|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_453.xml" PIK3R1 171833 352217 objectId:2503 HGNC:8979 "ENST00000521381.6|NM_181523.3" HGNC:8979 HGNC:8980 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "P85B|p85|p85beta|p85-BETA" phosphoinositide-3-kinase regulatory subunit beta phosphoinositide-3-kinase, regulatory subunit 2 (beta) SH2 domain containing 741 1992-12-08 2015-11-17 2023-01-20 5296 ENSG00000105647 OTTHUMG00000183383 uc002nia.3 NM_005027 CCDS12371 O00459 "1314371|26860062" MGI:1098772 RGD:68341 LRG_1392|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1392.xml 603157 306122 objectId:2504 HGNC:8980 "ENST00000222254.13|NM_005027.4" HGNC:8980 -HGNC:8981 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 p55 phosphoinositide-3-kinase regulatory subunit gamma phosphoinositide-3-kinase, regulatory subunit 3 (gamma) SH2 domain containing 741 1998-10-12 2015-11-17 2023-01-20 8503 ENSG00000117461 OTTHUMG00000008096 uc001cpc.5 BC021622 NM_003629 "CCDS529|CCDS76154" Q92569 9524259 MGI:109277 RGD:621042 606076 objectId:2505 HGNC:8981 "ENST00000262741.10|NM_003629.4" +HGNC:8981 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 p55 phosphoinositide-3-kinase regulatory subunit gamma phosphoinositide-3-kinase, regulatory subunit 3 (gamma) SH2 domain containing 741 1998-10-12 2015-11-17 2023-01-20 8503 ENSG00000117461 OTTHUMG00000008096 uc001cpc.5 BC021622 NM_003629 "CCDS76154|CCDS529" Q92569 9524259 MGI:109277 RGD:621042 606076 objectId:2505 HGNC:8981 "ENST00000262741.10|NM_003629.4" HGNC:8982 PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "VPS15|p150" phosphoinositide-3-kinase, regulatory subunit 4 "WD repeat domain containing|Armadillo like helical domain containing|PIK3C3 complex subunits" "362|1492|1596" 2000-04-11 2015-11-17 2023-01-20 30849 ENSG00000196455 OTTHUMG00000159645 uc003enj.4 Y08991 NM_014602 CCDS3067 Q99570 8999962 MGI:1922919 RGD:1311809 602610 objectId:2157 HGNC:8982 "ENST00000356763.8|NM_014602.3" -HGNC:30035 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "P101-PI3K|p101" phosphoinositide-3-kinase, regulatory subunit 5 2004-10-13 2015-11-17 2023-01-20 23533 ENSG00000141506 OTTHUMG00000108197 uc010vuz.3 AF128881 NM_014308 "CCDS73986|CCDS92257|CCDS11147" Q8WYR1 12507995 MGI:2443588 RGD:1563261 611317 300201 objectId:2506 HGNC:30035 "ENST00000447110.6|NM_001142633.3" HGNC:30035 +HGNC:30035 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "P101-PI3K|p101" phosphoinositide-3-kinase, regulatory subunit 5 2004-10-13 2015-11-17 2023-01-20 23533 ENSG00000141506 OTTHUMG00000108197 uc010vuz.3 AF128881 NM_014308 "CCDS73986|CCDS11147|CCDS92257" Q8WYR1 12507995 MGI:2443588 RGD:1563261 611317 300201 objectId:2506 HGNC:30035 "ENST00000447110.6|NM_001142633.3" HGNC:30035 HGNC:55321 PIK3R5-DT PIK3R5 divergent transcript non-coding RNA RNA, long non-coding Approved 17p13.1 17p13.1 Divergent transcripts 1990 2020-10-21 2020-10-21 101928235 ENSG00000266389 NR_184077 HGNC:27101 PIK3R6 phosphoinositide-3-kinase regulatory subunit 6 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ34500|HsT41028|p87PIKAP" C17orf38 "chromosome 17 open reading frame 38|phosphoinositide-3-kinase, regulatory subunit 6" 2004-02-23 2008-02-04 2015-11-17 2023-01-20 146850 ENSG00000276231 OTTHUMG00000132861 uc032etf.1 AK091819 NM_001010855 CCDS73985 Q5UE93 16476736 MGI:2144613 RGD:1560850 611462 objectId:2507 HGNC:27101 "ENST00000619866.5|NM_001010855.4" -HGNC:23785 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing protein-coding gene gene with protein product Approved 2q34 02q34 "MGC40423|KIAA0981|PIP5K|p235|ZFYVE29|FAB1" zinc finger, FYVE domain containing 29 PIP5K3 "phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III|phosphoinositide kinase, FYVE finger containing" Zinc fingers FYVE-type 81 2003-12-12 2009-04-17 2016-02-15 2023-01-20 200576 ENSG00000115020 OTTHUMG00000132945 uc002vcz.3 AB023198 NM_015040 "CCDS2382|CCDS54431|CCDS33368" Q9Y2I7 "9858586|12270933" MGI:1335106 RGD:1592067 609414 117825 objectId:2857 HGNC:23785 "ENST00000264380.9|NM_015040.4" HGNC:23785 +HGNC:23785 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing protein-coding gene gene with protein product Approved 2q34 02q34 "MGC40423|KIAA0981|PIP5K|p235|ZFYVE29|FAB1" zinc finger, FYVE domain containing 29 PIP5K3 "phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III|phosphoinositide kinase, FYVE finger containing" Zinc fingers FYVE-type 81 2003-12-12 2009-04-17 2016-02-15 2023-01-20 200576 ENSG00000115020 OTTHUMG00000132945 uc002vcz.3 AB023198 NM_015040 "CCDS33368|CCDS54431|CCDS2382" Q9Y2I7 "9858586|12270933" MGI:1335106 RGD:1592067 609414 117825 objectId:2857 HGNC:23785 "ENST00000264380.9|NM_015040.4" HGNC:23785 HGNC:20396 PILRA paired immunoglobin like type 2 receptor alpha protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FDF03 paired immunoglobin-like type 2 receptor alpha V-set domain containing 590 2003-09-10 2016-03-15 2023-01-20 29992 ENSG00000085514 OTTHUMG00000155248 uc003uuo.1 AF161080 NM_013439 "CCDS5691|CCDS47660|CCDS5692" Q9UKJ1 10660620 MGI:2450529 RGD:6497409 605341 HGNC:20396 "ENST00000198536.7|NM_013439.3" HGNC:18297 PILRB paired immunoglobin like type 2 receptor beta protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FDFACT1|FDFACT2" paired immunoglobin-like type 2 receptor beta V-set domain containing 590 2003-09-10 2019-02-21 2023-03-15 29990 ENSG00000121716 OTTHUMG00000155363 uc064gdi.1 "AF161081|AJ400845" NM_178238 CCDS43622 Q9UKJ0 10660620 "MGI:2450532|MGI:2450535" RGD:1584675 605342 HGNC:18297 "ENST00000609309.3|NM_178238.4" HGNC:8986 PIM1 Pim-1 proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 6p21.2 06p21.2 PIM pim-1 oncogene 1986-01-01 2014-06-25 2023-01-20 5292 ENSG00000137193 OTTHUMG00000016426 uc003onk.4 NM_001243186 CCDS4830 P11309 MGI:97584 RGD:3330 PIM1 164960 objectId:2158 HGNC:8986 "ENST00000373509.6|NM_002648.4" HGNC:8987 PIM2 Pim-2 proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 pim-2 oncogene 1999-08-26 2014-06-25 2023-01-20 11040 ENSG00000102096 OTTHUMG00000024132 uc004dls.4 U77735 NM_006875 CCDS14312 Q9P1W9 9804974 MGI:97587 RGD:1560759 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PIM2 300295 objectId:2159 HGNC:8987 "ENST00000376509.4|NM_006875.4" HGNC:19310 PIM3 Pim-3 proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 22q13.33 22q13.33 pim-3 oncogene MicroRNA protein coding host genes 1691 2005-01-21 2014-06-25 2023-01-20 415116 ENSG00000198355 OTTHUMG00000150290 uc003bjb.4 BC052239 NM_001001852 CCDS33678 Q86V86 12748291 MGI:1355297 RGD:620462 610580 objectId:2160 HGNC:19310 "ENST00000360612.5|NM_001001852.4" -HGNC:25483 PIMREG PICALM interacting mitotic regulator protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FLJ10156|FLJ10491|CATS|RCS1" "CALM interacting protein expressed in thymus and spleen|Regulator of chromosome segregation protein 1" FAM64A "family with sequence similarity 64, member A|family with sequence similarity 64 member A" 2005-04-29 2017-02-22 2017-02-22 2023-01-20 54478 ENSG00000129195 OTTHUMG00000177832 uc002gcu.3 NM_019013 "CCDS56016|CCDS32541" Q9BSJ6 "19383357|16491119" MGI:1924434 RGD:1308747 617611 HGNC:25483 "ENST00000572447.6|NM_019013.3" +HGNC:25483 PIMREG PICALM interacting mitotic regulator protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FLJ10156|FLJ10491|CATS|RCS1" "CALM interacting protein expressed in thymus and spleen|Regulator of chromosome segregation protein 1" FAM64A "family with sequence similarity 64, member A|family with sequence similarity 64 member A" 2005-04-29 2017-02-22 2017-02-22 2023-01-20 54478 ENSG00000129195 OTTHUMG00000177832 uc002gcu.3 NM_019013 "CCDS32541|CCDS56016" Q9BSJ6 "19383357|16491119" MGI:1924434 RGD:1308747 617611 HGNC:25483 "ENST00000572447.6|NM_019013.3" HGNC:54612 PIMREGP1 PIMREG pseudogene 1 pseudogene pseudogene Approved 2q33.1 02q33.1 2019-10-16 2019-10-16 442063 ENSG00000226261 NG_021546 HGNC:54613 PIMREGP2 PIMREG pseudogene 2 pseudogene pseudogene Approved 4q24 04q24 2019-10-16 2019-10-16 402182 ENSG00000216425 NG_022022 HGNC:54614 PIMREGP3 PIMREG pseudogene 3 pseudogene pseudogene Approved 6q15 06q15 2019-10-16 2019-10-16 100132736 ENSG00000217653 NG_022361 @@ -25579,17 +25581,17 @@ HGNC:53590 PINCR p53-induced noncoding RNA non-coding RNA RNA, long non-coding A HGNC:14581 PINK1 PTEN induced kinase 1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 BRPK PARK6 "Parkinson disease (autosomal recessive) 6|PTEN induced putative kinase 1" MicroRNA protein coding host genes 1691 2001-02-08 2018-08-29 2023-01-20 65018 ENSG00000158828 OTTHUMG00000002841 uc001bdm.3 AB053323 NM_032409 CCDS211 Q9BXM7 "24751536|11494141|15349860|14607334" MGI:1916193 RGD:1305769 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PINK1 608309 117822 objectId:2161 HGNC:14581 "ENST00000321556.5|NM_032409.3" HGNC:14581 HGNC:38872 PINK1-AS PINK1 antisense RNA non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 "FLJ00387|PINK1AS|naPINK1" PINK1-AS1 "PINK1 antisense RNA 1 (non-protein coding)|PINK1 antisense RNA (non-protein coding)" Antisense RNAs 1987 2010-08-19 2012-02-02 2012-08-15 2014-09-24 100861548 ENSG00000117242 OTTHUMG00000002840 uc031tru.1 AK090466 NR_046507 17362513 PINK1-AS HGNC:38872 HGNC:44206 PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing protein-coding gene gene with protein product Approved 19q13.31 19q13.31 LY6/PLAUR domain containing 1226 2012-07-20 2023-01-20 390940 ENSG00000234465 OTTHUMG00000175560 uc021uvg.2 NM_001193621 "CCDS58667|CCDS74385" A6NC86 MGI:3615324 RGD:1565787 HGNC:44206 "ENST00000599207.6|NM_001193621.3" -HGNC:30046 PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "LPTL|LPTS|FLJ20565|MGC8850|Gno1|Pxr1" "PIN2 interacting protein 1|liver-related putative tumor suppressor" PIN2/TERF1 interacting telomerase inhibitor 1 "G-patch domain containing|SSU processome|MicroRNA protein coding host genes" "579|1484|1691" 2010-04-26 2018-02-23 2023-01-20 54984 ENSG00000254093 OTTHUMG00000163808 uc003wth.4 AF418553 NM_017884 "CCDS64825|CCDS47801" Q96BK5 "11003615|11701125" MGI:1919650 RGD:1566025 606505 HGNC:30046 "ENST00000314787.8|NM_017884.6" +HGNC:30046 PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "LPTL|LPTS|FLJ20565|MGC8850|Gno1|Pxr1" "PIN2 interacting protein 1|liver-related putative tumor suppressor" PIN2/TERF1 interacting telomerase inhibitor 1 "G-patch domain containing|SSU processome|MicroRNA protein coding host genes" "579|1484|1691" 2010-04-26 2018-02-23 2023-01-20 54984 ENSG00000254093 OTTHUMG00000163808 uc003wth.4 AF418553 NM_017884 "CCDS47801|CCDS64825" Q96BK5 "11003615|11701125" MGI:1919650 RGD:1566025 606505 HGNC:30046 "ENST00000314787.8|NM_017884.6" HGNC:55532 PINX1-DT PINX1 divergent transcript non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Divergent transcripts 1990 2021-03-22 2021-03-22 101929229 ENSG00000253695 NR_125432 HGNC:8993 PIP prolactin induced protein protein-coding gene gene with protein product Approved 7q34 07q34 "GCDFP-15|GCDFP15|GPIP4|SABP|BRST-2" "prolactin-inducible protein|gross cystic disease fluid protein 15|secretory actin-binding protein|apocrine" prolactin-induced protein 1988-08-19 2016-03-15 2023-01-20 5304 ENSG00000159763 OTTHUMG00000152635 uc003wcf.2 NM_002652 CCDS34768 P12273 "2727805|1955075" MGI:102696 RGD:70946 176720 HGNC:8993 "ENST00000291009.4|NM_002652.3" HGNC:8997 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "PIP5KIIA|PIP5KIIalpha" PIP5K2A "phosphatidylinositol-4-phosphate 5-kinase, type II, alpha|phosphatidylinositol-5-phosphate 4-kinase, type II, alpha" 1997-07-22 2007-08-14 2016-04-11 2023-01-20 5305 ENSG00000150867 OTTHUMG00000017810 uc001irl.5 S78798 NM_005028 "CCDS7141|CCDS81443" P48426 "7852364|9367159" MGI:1298206 RGD:621708 603140 377556 objectId:2858 HGNC:8997 "ENST00000376573.9|NM_005028.5" HGNC:8998 PIP4K2B phosphatidylinositol-5-phosphate 4-kinase type 2 beta protein-coding gene gene with protein product Approved 17q12 17q12 "PIP5KIIB|PIP5KIIbeta" PIP5K2B "phosphatidylinositol-4-phosphate 5-kinase, type II, beta|phosphatidylinositol-5-phosphate 4-kinase, type II, beta" 1998-09-18 2007-08-14 2016-04-11 2023-01-20 8396 ENSG00000276293 OTTHUMG00000188504 uc002hqs.4 U85245 NM_003559 CCDS11329 P78356 "9038203|14691457|9367159" MGI:1934234 RGD:621710 603261 objectId:2162 2.7.1.149 HGNC:8998 "ENST00000619039.5|NM_003559.5" -HGNC:23786 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma protein-coding gene gene with protein product Approved 12q13.3 12q13.3 FLJ22055 PIP5K2C "phosphatidylinositol-4-phosphate 5-kinase, type II, gamma|phosphatidylinositol-5-phosphate 4-kinase, type II, gamma" 2003-12-10 2007-08-14 2016-04-11 2023-01-20 79837 ENSG00000166908 OTTHUMG00000170144 uc001sou.4 AK125526 NM_024779 "CCDS8946|CCDS53808|CCDS55839" Q8TBX8 9367159 MGI:2152214 RGD:621711 617104 objectId:2163 HGNC:23786 "ENST00000354947.10|NM_024779.5" -HGNC:19299 PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MGC26684 "type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase|type I PtdIns-4,5-P(2) 4-phosphatase" "C14orf9|TMEM55B" "chromosome 14 open reading frame 9|transmembrane protein 55B" Phosphoinositide phosphatases 1079 2002-11-27 2017-07-20 2017-07-20 2023-01-20 90809 ENSG00000165782 OTTHUMG00000029545 uc001vxl.4 BC002867 NM_144568 "CCDS9551|CCDS41911" Q86T03 "16365287|17940011" MGI:2448501 RGD:1307475 609865 3.1.3.78 HGNC:19299 "ENST00000250489.9|NM_144568.4" +HGNC:23786 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma protein-coding gene gene with protein product Approved 12q13.3 12q13.3 FLJ22055 PIP5K2C "phosphatidylinositol-4-phosphate 5-kinase, type II, gamma|phosphatidylinositol-5-phosphate 4-kinase, type II, gamma" 2003-12-10 2007-08-14 2016-04-11 2023-01-20 79837 ENSG00000166908 OTTHUMG00000170144 uc001sou.4 AK125526 NM_024779 "CCDS55839|CCDS8946|CCDS53808" Q8TBX8 9367159 MGI:2152214 RGD:621711 617104 objectId:2163 HGNC:23786 "ENST00000354947.10|NM_024779.5" +HGNC:19299 PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MGC26684 "type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase|type I PtdIns-4,5-P(2) 4-phosphatase" "C14orf9|TMEM55B" "chromosome 14 open reading frame 9|transmembrane protein 55B" Phosphoinositide phosphatases 1079 2002-11-27 2017-07-20 2017-07-20 2023-01-20 90809 ENSG00000165782 OTTHUMG00000029545 uc001vxl.4 BC002867 NM_144568 "CCDS41911|CCDS9551" Q86T03 "16365287|17940011" MGI:2448501 RGD:1307475 609865 3.1.3.78 HGNC:19299 "ENST00000250489.9|NM_144568.4" HGNC:25452 PIP4P2 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 DKFZp762O076 "type II phosphatidylinositol-4,5-bisphosphate 4-phosphatase|type II PtdIns-4,5-P(2) 4-phosphatase" TMEM55A transmembrane protein 55A Phosphoinositide phosphatases 1079 2005-07-18 2017-07-20 2017-07-20 2023-01-20 55529 ENSG00000155099 OTTHUMG00000164019 uc003yes.5 BC033892 NM_018710 CCDS6252 Q8N4L2 16365287 MGI:1919769 RGD:1306225 609864 3.1.3.78 HGNC:25452 "ENST00000285419.8|NM_018710.3" -HGNC:8994 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha protein-coding gene gene with protein product Approved 1q21.3 01q21.3 phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 1998-09-18 2016-04-11 2023-01-20 8394 ENSG00000143398 OTTHUMG00000012351 uc001exi.4 U78575 NM_003557 "CCDS990|CCDS44220|CCDS81374|CCDS44219|CCDS44221" Q99755 "8955136|10828584" MGI:107929 RGD:1306127 603275 objectId:2164 HGNC:8994 "ENST00000368888.9|NM_001135638.2" +HGNC:8994 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha protein-coding gene gene with protein product Approved 1q21.3 01q21.3 phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 1998-09-18 2016-04-11 2023-01-20 8394 ENSG00000143398 OTTHUMG00000012351 uc001exi.4 U78575 NM_003557 "CCDS44221|CCDS44219|CCDS44220|CCDS990|CCDS81374" Q99755 "8955136|10828584" MGI:107929 RGD:1306127 603275 objectId:2164 HGNC:8994 "ENST00000368888.9|NM_001135638.2" HGNC:8995 PIP5K1B phosphatidylinositol-4-phosphate 5-kinase type 1 beta protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "STM7|MSS4" phosphatidylinositol-4-phosphate 5-kinase, type I, beta 1998-09-18 2016-04-11 2023-01-20 8395 ENSG00000107242 OTTHUMG00000019976 uc004agu.5 U78579 NM_003558 "CCDS6624|CCDS65063" O14986 "9177790|8841185" MGI:107930 RGD:1310914 602745 objectId:2500 HGNC:8995 "ENST00000265382.8|NM_003558.4" -HGNC:8996 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PIP5Kgamma|KIAA0589|LCCS3" phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 1999-12-14 2016-04-11 2023-01-20 23396 ENSG00000186111 OTTHUMG00000180870 uc002lyj.3 AB011161 NM_012398 "CCDS32872|CCDS56074|CCDS74257" O60331 9535851 MGI:1298224 RGD:1309938 606102 160322 objectId:2165 HGNC:8996 "ENST00000335312.8|NM_012398.3" HGNC:8996 +HGNC:8996 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PIP5Kgamma|KIAA0589|LCCS3" phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 1999-12-14 2016-04-11 2023-01-20 23396 ENSG00000186111 OTTHUMG00000180870 uc002lyj.3 AB011161 NM_012398 "CCDS74257|CCDS56074|CCDS32872" O60331 9535851 MGI:1298224 RGD:1309938 606102 160322 objectId:2165 HGNC:8996 "ENST00000335312.8|NM_012398.3" HGNC:8996 HGNC:28372 PIP5K1P1 phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 1 pseudogene pseudogene Approved 6p24.3 06p24.3 MGC26597 phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 2010-04-08 2016-04-11 2016-04-11 206426 ENSG00000219294 OTTHUMG00000014219 BC028580 NR_027712.1 12477932 PGOHUM00000243483 HGNC:28372 HGNC:38068 PIP5K1P2 phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 2 pseudogene pseudogene Approved 7q36.3 07q36.3 phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 2 2010-04-08 2016-04-11 2016-04-11 100129824 ENSG00000229435 OTTHUMG00000151313 NG_023450 PGOHUM00000233661 HGNC:38068 HGNC:28711 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "bA203J24.5|MGC46424" phosphatidylinositol-4-phosphate 5-kinase-like 1 2004-02-17 2016-03-24 2023-01-20 138429 ENSG00000167103 OTTHUMG00000020719 uc011mao.3 BC042184 NM_173492 "CCDS6885|CCDS48030" Q5T9C9 12477932 MGI:2448520 RGD:1597527 612865 HGNC:28711 "ENST00000388747.9|NM_001135219.2" @@ -25712,22 +25714,22 @@ HGNC:37616 PIRC112 piwi-interacting RNA cluster 112 non-coding RNA RNA, cluster HGNC:37617 PIRC113 piwi-interacting RNA cluster 113 non-coding RNA RNA, cluster Approved X X Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313880 17881367 HGNC:37618 PIRC114 piwi-interacting RNA cluster 114 non-coding RNA RNA, cluster Approved X X Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313881 17881367 HGNC:37239 PIRT phosphoinositide interacting regulator of transient receptor potential channels protein-coding gene gene with protein product Approved 17p12 17p12 phosphoinositide-interacting regulator of TRPV1 phosphoinositide-interacting regulator of transient receptor potential channels 2010-06-04 2016-04-01 2023-01-20 644139 ENSG00000233670 OTTHUMG00000178234 uc010col.4 AK021549 NM_001101387 CCDS45614 P0C851 18455988 MGI:2443635 RGD:1565284 612068 HGNC:37239 "ENST00000580256.3|NM_001101387.2" -HGNC:8999 PISD phosphatidylserine decarboxylase protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "dJ858B16.2|PSDC" MicroRNA protein coding host genes 1691 1999-10-29 2023-01-20 23761 ENSG00000241878 OTTHUMG00000030252 uc003alk.3 NM_001326411 "CCDS13899|CCDS87016" Q9UG56 10591208 MGI:2445114 RGD:1596729 612770 objectId:1277 4.1.1.65 HGNC:8999 "ENST00000439502.7|NM_001326411.2" HGNC:8999 +HGNC:8999 PISD phosphatidylserine decarboxylase protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "dJ858B16.2|PSDC" MicroRNA protein coding host genes 1691 1999-10-29 2023-01-20 23761 ENSG00000241878 OTTHUMG00000030252 uc003alk.3 NM_001326411 "CCDS87016|CCDS13899" Q9UG56 10591208 MGI:2445114 RGD:1596729 612770 objectId:1277 4.1.1.65 HGNC:8999 "ENST00000439502.7|NM_001326411.2" HGNC:8999 HGNC:16671 PISRT1 PISRT1 lncRNA non-coding RNA RNA, long non-coding Approved 3q23 03q23 NCRNA00195 non-protein coding RNA 195 "polled intersex syndrome regulated transcript 1 homolog (goat)|polled intersex syndrome regulated transcript 1 (non-protein coding RNA)" Long non-coding RNAs with non-systematic symbols 1992 2006-01-23 2018-05-04 2018-05-04 140464 ENSG00000281473 OTTHUMG00000189533 uc062ohu.1 AW268472 NR_027070 "16137905|22171663" PISRT1 HGNC:16671 HGNC:25022 PITHD1 PITH domain containing 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "HT014|TXNL1CL" TXNL1 C-terminal like C1orf128 "chromosome 1 open reading frame 128|PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1" 2005-06-27 2011-02-21 2016-04-06 2023-01-20 57095 ENSG00000057757 OTTHUMG00000002960 uc001bhq.4 NM_020362 CCDS240 Q9GZP4 "25134913|31915251" MGI:1913443 RGD:1308048 618784 HGNC:25022 "ENST00000246151.9|NM_020362.5" HGNC:9001 PITPNA phosphatidylinositol transfer protein alpha protein-coding gene gene with protein product Approved 17p13.3 17p13.3 VIB1A PITPN phosphotidylinositol transfer protein Phosphatidylinositol transfer proteins 1151 1994-03-24 2004-09-03 2015-11-20 2023-01-20 5306 ENSG00000174238 OTTHUMG00000177779 uc059zgh.1 M73704 NM_006224 CCDS45563 Q00169 8255295 MGI:99887 RGD:61885 600174 HGNC:9001 "ENST00000313486.12|NM_006224.4" HGNC:44116 PITPNA-AS1 PITPNA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 PITPNA antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2020-08-05 100306951 ENSG00000236618 OTTHUMG00000132194 uc021tne.2 "HY016432|DB053306|AW978020" NR_028514 32460193 PITPNA-AS1 HGNC:44116 -HGNC:9002 PITPNB phosphatidylinositol transfer protein beta protein-coding gene gene with protein product Approved 22q12.1 22q12.1 VIB1B Phosphatidylinositol transfer proteins 1151 1999-10-29 2015-11-20 2023-01-20 23760 ENSG00000180957 OTTHUMG00000150976 uc003adk.5 D30037 NM_001284277 "CCDS63432|CCDS13842|CCDS63433" P48739 10591208 MGI:1927542 RGD:620143 606876 HGNC:9002 "ENST00000335272.10|NM_012399.5" +HGNC:9002 PITPNB phosphatidylinositol transfer protein beta protein-coding gene gene with protein product Approved 22q12.1 22q12.1 VIB1B Phosphatidylinositol transfer proteins 1151 1999-10-29 2015-11-20 2023-01-20 23760 ENSG00000180957 OTTHUMG00000150976 uc003adk.5 D30037 NM_001284277 "CCDS63432|CCDS63433|CCDS13842" P48739 10591208 MGI:1927542 RGD:620143 606876 HGNC:9002 "ENST00000335272.10|NM_012399.5" HGNC:21045 PITPNC1 phosphatidylinositol transfer protein cytoplasmic 1 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "RDGBB1|RDGBB|RDGB-BETA" phosphatidylinositol transfer protein, cytoplasmic 1 "Phosphatidylinositol transfer proteins|MicroRNA protein coding host genes" "1151|1691" 2003-05-09 2018-01-29 2023-01-20 26207 ENSG00000154217 OTTHUMG00000179602 uc002jgc.5 AF171102 NM_012417 "CCDS58588|CCDS58587" Q9UKF7 10531358 MGI:1919045 RGD:1597047 605134 HGNC:21045 "ENST00000581322.6|NM_012417.4" HGNC:9003 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "DRES9|NIR2|RDGB1|RDGBA1|Rd9|RDGB" "PYK2 N-terminal domain-interacting receptor 2|retinal degeneration B alpha 1" PITPNM phosphatidylinositol transfer protein, membrane associated 1 Phosphatidylinositol transfer proteins 1151 1999-06-10 2003-05-16 2016-03-11 2023-01-20 9600 ENSG00000110697 OTTHUMG00000167675 uc001oly.4 X98654 NM_004910 "CCDS31620|CCDS44659" O00562 9680295 MGI:1197524 RGD:1306710 608794 HGNC:9003 "ENST00000356404.8|NM_004910.3" -HGNC:21044 PITPNM2 phosphatidylinositol transfer protein membrane associated 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "RDGBA2|RDGB2|NIR3" phosphatidylinositol transfer protein, membrane associated 2 "Phosphatidylinositol transfer proteins|MicroRNA protein coding host genes" "1151|1691" 2003-05-09 2016-03-11 2023-01-20 57605 ENSG00000090975 OTTHUMG00000168845 uc001uej.2 AF334585 NM_020845 "CCDS73543|CCDS9242" Q9BZ72 10022914 MGI:1336192 RGD:1310867 608920 HGNC:21044 "ENST00000320201.10|NM_020845.3" +HGNC:21044 PITPNM2 phosphatidylinositol transfer protein membrane associated 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "RDGBA2|RDGB2|NIR3" phosphatidylinositol transfer protein, membrane associated 2 "Phosphatidylinositol transfer proteins|MicroRNA protein coding host genes" "1151|1691" 2003-05-09 2016-03-11 2023-01-20 57605 ENSG00000090975 OTTHUMG00000168845 uc001uej.2 AF334585 NM_020845 "CCDS9242|CCDS73543" Q9BZ72 10022914 MGI:1336192 RGD:1310867 608920 HGNC:21044 "ENST00000320201.10|NM_020845.3" HGNC:53391 PITPNM2-AS1 PITPNM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Antisense RNAs 1987 2017-03-27 2017-03-27 100507091 ENSG00000251497 OTTHUMG00000168847 NR_038290 HGNC:53391 -HGNC:21043 PITPNM3 PITPNM family member 3 protein-coding gene gene with protein product Approved 17p13.2-p13.1 17p13.2-p13.1 "NIR1|RDGBA3|ACKR6" atypical chemokine receptor 6 CORD5 cone rod dystrophy 5 "Atypical chemokine receptors|Phosphatidylinositol transfer proteins" "1090|1151" 2003-05-09 2013-07-18 2013-07-18 2023-01-20 83394 ENSG00000091622 OTTHUMG00000102039 uc002gdd.5 AF334586 NM_031220 "CCDS11076|CCDS54080" Q9BZ71 10022914 MGI:2685726 RGD:1308200 608921 160327 HGNC:21043 "ENST00000262483.13|NM_031220.4" HGNC:21043 -HGNC:17663 PITRM1 pitrilysin metallopeptidase 1 protein-coding gene gene with protein product Approved 10p15.2 10p15.2 "MP1|KIAA1104|hMP1|PreP" "PreP peptidasome|presequence protease, mitochondrial" pitrilysin metalloproteinase 1 M16 metallopeptidases 1440 2002-09-24 2005-08-17 2023-01-20 10531 ENSG00000107959 OTTHUMG00000017557 uc009xhv.3 AB029027 NM_001242307 "CCDS55700|CCDS59208|CCDS91206|CCDS91205|CCDS55699" Q5JRX3 "1036083|10470851|16849325" MGI:1916867 RGD:1310998 618211 M16.009 HGNC:17663 "ENST00000224949.9|NM_014889.4" HGNC:17663 +HGNC:21043 PITPNM3 PITPNM family member 3 protein-coding gene gene with protein product Approved 17p13.2-p13.1 17p13.2-p13.1 "NIR1|RDGBA3|ACKR6" atypical chemokine receptor 6 CORD5 cone rod dystrophy 5 "Atypical chemokine receptors|Phosphatidylinositol transfer proteins" "1090|1151" 2003-05-09 2013-07-18 2013-07-18 2023-01-20 83394 ENSG00000091622 OTTHUMG00000102039 uc002gdd.5 AF334586 NM_031220 "CCDS54080|CCDS11076" Q9BZ71 10022914 MGI:2685726 RGD:1308200 608921 160327 HGNC:21043 "ENST00000262483.13|NM_031220.4" HGNC:21043 +HGNC:17663 PITRM1 pitrilysin metallopeptidase 1 protein-coding gene gene with protein product Approved 10p15.2 10p15.2 "MP1|KIAA1104|hMP1|PreP" "PreP peptidasome|presequence protease, mitochondrial" pitrilysin metalloproteinase 1 M16 metallopeptidases 1440 2002-09-24 2005-08-17 2023-01-20 10531 ENSG00000107959 OTTHUMG00000017557 uc009xhv.3 AB029027 NM_001242307 "CCDS91205|CCDS91206|CCDS55700|CCDS59208|CCDS55699" Q5JRX3 "1036083|10470851|16849325" MGI:1916867 RGD:1310998 618211 M16.009 HGNC:17663 "ENST00000224949.9|NM_014889.4" HGNC:17663 HGNC:44675 PITRM1-AS1 PITRM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p15.2 10p15.2 Antisense RNAs 1987 2012-12-03 2012-12-03 100507034 ENSG00000237399 OTTHUMG00000017558 uc001igv.3 BC050332 NR_038284 PITRM1-AS1 HGNC:44675 HGNC:9004 PITX1 paired like homeodomain 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "PTX1|POTX" BFT "paired-like homeodomain transcription factor 1|paired-like homeodomain 1" PRD class homeoboxes and pseudogenes 521 1998-02-27 2016-01-27 2023-01-20 5307 ENSG00000069011 OTTHUMG00000149983 uc010jea.4 AF009648 NM_002653 CCDS4182 P78337 "9337397|9070926" MGI:107374 RGD:69253 602149 8491 201502 HGNC:9004 "ENST00000265340.12|NM_002653.5" HGNC:9004 HGNC:48332 PITX1-AS1 PITX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 C5orf66 "chromosome 5 open reading frame 66|chromosome 5 putative open reading frame 66" Antisense RNAs 1987 2013-11-06 2021-02-12 2021-02-12 2023-03-15 100996485 ENSG00000224186 OTTHUMG00000163075 NR_161235 HGNC:48332 -HGNC:9005 PITX2 paired like homeodomain 2 protein-coding gene gene with protein product Approved 4q25 04q25 "IGDS|RS|Brx1|Otlx2|ARP1" "IRID2|IHG2|RIEG|RIEG1|RGS" "paired-like homeodomain transcription factor 2|paired-like homeodomain 2" PRD class homeoboxes and pseudogenes 521 1992-10-05 2016-01-27 2023-01-20 5308 ENSG00000164093 OTTHUMG00000132837 uc003iac.4 U69961 NM_000325 "CCDS3694|CCDS3693|CCDS3692" Q99697 "9539779|7581385" MGI:109340 RGD:3331 601542 8492 117832 HGNC:9005 "ENST00000644743.1|NM_000325.6" HGNC:9005 +HGNC:9005 PITX2 paired like homeodomain 2 protein-coding gene gene with protein product Approved 4q25 04q25 "IGDS|RS|Brx1|Otlx2|ARP1" "IRID2|IHG2|RIEG|RIEG1|RGS" "paired-like homeodomain transcription factor 2|paired-like homeodomain 2" PRD class homeoboxes and pseudogenes 521 1992-10-05 2016-01-27 2023-01-20 5308 ENSG00000164093 OTTHUMG00000132837 uc003iac.4 U69961 NM_000325 "CCDS3693|CCDS3694|CCDS3692" Q99697 "9539779|7581385" MGI:109340 RGD:3331 601542 8492 117832 HGNC:9005 "ENST00000644743.1|NM_000325.6" HGNC:9005 HGNC:9006 PITX3 paired like homeodomain 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 ASMD "paired-like homeodomain transcription factor 3|anterior segment mesenchymal dysgenesis|paired-like homeodomain 3" PRD class homeoboxes and pseudogenes 521 1998-06-04 2016-01-27 2023-01-20 5309 ENSG00000107859 OTTHUMG00000018952 uc001kuu.2 NM_005029 CCDS7532 O75364 9620774 MGI:1100498 RGD:3332 602669 8414 117844 HGNC:9006 "ENST00000370002.8|NM_005029.4" HGNC:9006 HGNC:9007 PIWIL1 piwi like RNA-mediated gene silencing 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "PIWI|HIWI|CT80.1" "piwi (Drosophila)-like 1|piwi-like 1 (Drosophila)" Piwi like RNA-mediated gene silencing family 2038 2000-02-11 2016-04-19 2023-01-20 9271 ENSG00000125207 OTTHUMG00000168382 uc001uik.4 AF104260 NM_001190971 CCDS9268 Q96J94 "9851978|12906857" MGI:1928897 RGD:1306980 605571 HGNC:9007 "ENST00000245255.7|NM_004764.5" HGNC:17644 PIWIL2 piwi like RNA-mediated gene silencing 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "HILI|FLJ10351|Mili|CT80" "Hiwi-like|cancer/testis antigen 80" piwi-like 2 (Drosophila) Piwi like RNA-mediated gene silencing family 2038 2002-04-26 2016-04-19 2023-01-20 55124 ENSG00000197181 OTTHUMG00000097767 uc003xbn.3 AK001213 NM_001135721 "CCDS6029|CCDS83261" Q8TC59 "11279525|12906857" MGI:1930036 RGD:1306964 610312 HGNC:17644 "ENST00000356766.11|NM_018068.5" HGNC:17644 @@ -25735,9 +25737,9 @@ HGNC:55522 PIWIL2-DT PIWIL2 divergent transcript non-coding RNA RNA, long non-co HGNC:18443 PIWIL3 piwi like RNA-mediated gene silencing 3 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 HIWI3 piwi-like 3 (Drosophila) Piwi like RNA-mediated gene silencing family 2038 2002-04-26 2016-04-19 2023-01-20 440822 ENSG00000184571 OTTHUMG00000150788 uc003abd.3 AB079368 NM_001008496 "CCDS33623|CCDS93133" Q7Z3Z3 12906857 610314 HGNC:18443 "ENST00000616349.5|NM_001255975.1" HGNC:18444 PIWIL4 piwi like RNA-mediated gene silencing 4 protein-coding gene gene with protein product Approved 11q21 11q21 "FLJ36156|HIWI2|Miwi2" piwi-like 4 (Drosophila) Piwi like RNA-mediated gene silencing family 2038 2002-04-26 2016-04-19 2023-01-20 143689 ENSG00000134627 OTTHUMG00000167811 uc001pfa.3 AB079366 NM_152431 CCDS31656 Q7Z3Z4 12906857 MGI:3041167 RGD:1311015 610315 HGNC:18444 "ENST00000299001.11|NM_152431.3" HGNC:55493 PIWIL4-AS1 PIWIL4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q21 11q21 Antisense RNAs 1987 2021-03-12 2021-03-12 105369438 ENSG00000255929 NR_135093 -HGNC:16648 PJA1 praja ring finger ubiquitin ligase 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "FLJ11830|RNF70|PRAJA1" "praja 1|praja ring finger 1|praja ring finger 1, E3 ubiquitin protein ligase" Ring finger proteins 58 2001-12-07 2016-01-27 2023-01-20 64219 ENSG00000181191 OTTHUMG00000021753 uc004dxh.4 AK021892 NM_145119 "CCDS14392|CCDS14393|CCDS35316" Q8NG27 "12036302|21513699|28067271" MGI:1101765 RGD:1591532 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PJA1 300420 HGNC:16648 "ENST00000374571.5|NM_001032396.4" +HGNC:16648 PJA1 praja ring finger ubiquitin ligase 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "FLJ11830|RNF70|PRAJA1" "praja 1|praja ring finger 1|praja ring finger 1, E3 ubiquitin protein ligase" Ring finger proteins 58 2001-12-07 2016-01-27 2023-01-20 64219 ENSG00000181191 OTTHUMG00000021753 uc004dxh.4 AK021892 NM_145119 "CCDS35316|CCDS14393|CCDS14392" Q8NG27 "12036302|21513699|28067271" MGI:1101765 RGD:1591532 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PJA1 300420 HGNC:16648 "ENST00000374571.5|NM_001032396.4" HGNC:17481 PJA2 praja ring finger ubiquitin ligase 2 protein-coding gene gene with protein product Approved 5q21.3 05q21.3 "KIAA0438|Neurodap1|PRAJA2" RNF131 "ring finger protein 131|praja ring finger 2|praja ring finger 2, E3 ubiquitin protein ligase" Ring finger proteins 58 2003-05-21 2003-06-05 2016-01-27 2023-01-20 9867 ENSG00000198961 OTTHUMG00000128750 uc003kos.5 AB007898 NM_014819 CCDS4099 O43164 "21423175|33934390" MGI:2159342 RGD:620273 619341 HGNC:17481 "ENST00000361189.7|NM_014819.5" -HGNC:29502 PJVK pejvakin protein-coding gene gene with protein product Approved 2q31.2 02q31.2 DFNB59 deafness, autosomal recessive 59 Gasdermins 1529 2005-01-13 2017-06-30 2017-06-30 2023-01-20 494513 ENSG00000204311 OTTHUMG00000154425 uc002umi.5 "BC020859|BQ887979" NM_001042702 "CCDS42787|CCDS86897" Q0ZLH3 16804542 MGI:2685847 RGD:1587131 610219 166807 HGNC:29502 "ENST00000644580.2|NM_001042702.5" HGNC:29502 +HGNC:29502 PJVK pejvakin protein-coding gene gene with protein product Approved 2q31.2 02q31.2 DFNB59 deafness, autosomal recessive 59 Gasdermins 1529 2005-01-13 2017-06-30 2017-06-30 2023-01-20 494513 ENSG00000204311 OTTHUMG00000154425 uc002umi.5 "BC020859|BQ887979" NM_001042702 "CCDS86897|CCDS42787" Q0ZLH3 16804542 MGI:2685847 RGD:1587131 610219 166807 HGNC:29502 "ENST00000644580.2|NM_001042702.5" HGNC:29502 HGNC:9008 PKD1 polycystin 1, transient receptor potential channel interacting protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "PBP|Pc-1|TRPP1" "polycystin 1|transient receptor potential cation channel, subfamily P, member 1" polycystic kidney disease 1 (autosomal dominant) "C-type lectin domain containing|MicroRNA protein coding host genes" "1298|1691" 2001-06-22 2016-01-28 2023-01-20 5310 ENSG00000008710 OTTHUMG00000155795 uc002cos.1 L33243 NM_000296 "CCDS32369|CCDS45385" P98161 19556541 MGI:97603 RGD:3333 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PKD1 601313 117846 P02.036 HGNC:9008 "ENST00000262304.9|NM_001009944.3" HGNC:9008 HGNC:56035 PKD1-AS1 PKD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2021-12-06 2021-12-06 105371049 ENSG00000259933 NR_135175 HGNC:18053 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting protein-coding gene gene with protein product Approved 7p12.3 07p12.3 PRO19563 polycystin-1L1 polycystic kidney disease 1 like 1 2002-03-21 2016-01-28 2023-01-20 168507 ENSG00000158683 OTTHUMG00000155649 uc003tny.3 AB061683 NM_138295 CCDS34633 Q8TDX9 "11863367|24336289" MGI:2156538 RGD:1564724 609721 475300 HGNC:18053 "ENST00000289672.7|NM_138295.5" HGNC:18053 @@ -25752,7 +25754,7 @@ HGNC:30069 PKD1P5 polycystin 1, transient receptor potential channel interacting HGNC:30070 PKD1P6 polycystin 1, transient receptor potential channel interacting pseudogene 6 pseudogene pseudogene Approved 16p13.11 16p13.11 polycystic kidney disease 1 (autosomal dominant) pseudogene 6 2004-05-19 2016-01-28 2016-01-28 353511 ENSG00000250251 OTTHUMG00000156664 uc059rdq.1 NG_002799 "8004675|10493829" HGNC:30070 HGNC:9009 PKD2 polycystin 2, transient receptor potential cation channel protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "PKD4|PC2|Pc-2|TRPP2" transient receptor potential cation channel, subfamily P, member 2 polycystic kidney disease 2 (autosomal dominant) "Transient receptor potential cation channels|EF-hand domain containing" "249|863" 1988-08-07 2016-01-28 2023-01-20 5311 ENSG00000118762 OTTHUMG00000160982 uc003hre.4 U50928 NM_000297 CCDS3627 Q13563 8298643 MGI:1099818 RGD:1559992 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PKD2 173910 117849 objectId:504 HGNC:9009 "ENST00000237596.7|NM_000297.4" HGNC:9009 HGNC:9011 PKD2L1 polycystin 2 like 1, transient receptor potential cation channel protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "PCL|TRPP3" "transient receptor potential cation channel, subfamily P, member 3|polycystin-L" "PKD2L|PKDL" polycystic kidney disease 2-like 1 Transient receptor potential cation channels 249 1999-01-21 2016-01-28 2023-01-20 9033 ENSG00000107593 OTTHUMG00000018910 uc001kqx.2 AF094827 NM_016112 CCDS7492 Q9P0L9 "9878261|9748274" MGI:1352448 RGD:1306261 604532 objectId:505 HGNC:9011 "ENST00000318222.4|NM_016112.3" -HGNC:9012 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel protein-coding gene gene with protein product Approved 5q31.2 05q31.2 TRPP5 transient receptor potential cation channel subfamily P member 5 polycystic kidney disease 2-like 2 Transient receptor potential cation channels 249 2000-01-04 2016-01-28 2023-01-20 27039 ENSG00000078795 OTTHUMG00000163306 uc003lbw.2 AF118125 NM_014386 "CCDS78062|CCDS58971|CCDS58972|CCDS43367" Q9NZM6 10602361 MGI:1858231 RGD:1310272 604669 objectId:506 HGNC:9012 "ENST00000508883.6|NM_001300921.2" +HGNC:9012 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel protein-coding gene gene with protein product Approved 5q31.2 05q31.2 TRPP5 transient receptor potential cation channel subfamily P member 5 polycystic kidney disease 2-like 2 Transient receptor potential cation channels 249 2000-01-04 2016-01-28 2023-01-20 27039 ENSG00000078795 OTTHUMG00000163306 uc003lbw.2 AF118125 NM_014386 "CCDS43367|CCDS58971|CCDS58972|CCDS78062" Q9NZM6 10602361 MGI:1858231 RGD:1310272 604669 objectId:506 HGNC:9012 "ENST00000508883.6|NM_001300921.2" HGNC:55557 PKD2L2-DT PKD2L2 divergent transcript non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 Divergent transcripts 1990 2021-04-07 2021-04-07 101928005 ENSG00000250159 XR_007058950 HGNC:25123 PKDCC protein kinase domain containing, cytoplasmic protein-coding gene gene with protein product Approved 2p21 02p21 "SgK493|Vlk" vertebrate lonesome kinase protein kinase domain containing, cytoplasmic homolog (mouse) 2009-11-06 2012-12-07 2023-01-20 91461 ENSG00000162878 OTTHUMG00000152303 uc002rsg.4 NM_138370 CCDS33186 Q504Y2 "19097194|19465597|27016259" MGI:2147077 RGD:1311939 614150 objectId:2166 HGNC:25123 "ENST00000294964.6|NM_138370.3" HGNC:25123 HGNC:9015 PKDREJ polycystin family receptor for egg jelly protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like|polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like|polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)|polycystin (PKD) family receptor for egg jelly" 1999-06-09 2017-03-14 2023-01-20 10343 ENSG00000130943 OTTHUMG00000150493 uc003bhh.4 AF116458 NM_006071 CCDS14073 Q9NTG1 "9949214|10591208" MGI:1338786 RGD:1306587 604670 HGNC:9015 "ENST00000253255.7|NM_006071.2" @@ -25763,29 +25765,30 @@ HGNC:51659 PKIA-AS1 PKIA antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:9018 PKIB cAMP-dependent protein kinase inhibitor beta protein-coding gene gene with protein product Approved 6q22.31 06q22.31 PRKACN2 protein kinase (cAMP-dependent, catalytic) inhibitor beta 1999-08-27 2016-12-21 2023-01-20 5570 ENSG00000135549 OTTHUMG00000015488 uc003pyz.4 NM_001270393 "CCDS5126|CCDS59033" Q9C010 10880337 MGI:101937 RGD:3335 606914 HGNC:9018 "ENST00000368452.7|NM_181795.3" HGNC:9019 PKIG cAMP-dependent protein kinase inhibitor gamma protein-coding gene gene with protein product Approved 20q13.12 20q13.12 protein kinase (cAMP-dependent, catalytic) inhibitor gamma 1999-09-07 2016-12-21 2023-01-20 11142 ENSG00000168734 OTTHUMG00000033065 uc002xmi.5 AB019517 NM_001281444 CCDS13334 Q9Y2B9 10880337 MGI:1343086 RGD:628775 604932 HGNC:9019 "ENST00000372886.6|NM_001281445.2" HGNC:9020 PKLR pyruvate kinase L/R protein-coding gene gene with protein product Approved 1q22 01q22 pyruvate kinase, liver and RBC 2001-06-22 2017-09-21 2023-01-20 5313 ENSG00000143627 OTTHUMG00000035875 uc001fkb.5 "BC025737|M15465" NM_000298 "CCDS1109|CCDS44240" P30613 3566732 MGI:97604 RGD:3336 LRG_1136|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1136.xml 609712 117861 objectId:3007 2.7.1.40 HGNC:9020 "ENST00000342741.6|NM_000298.6" HGNC:9020 -HGNC:9021 PKM pyruvate kinase M1/2 protein-coding gene gene with protein product Approved 15q23 15q23 "THBP1|OIP3|PK3" PKM2 pyruvate kinase, muscle 2001-06-22 2012-05-23 2017-09-15 2023-03-15 5315 ENSG00000067225 OTTHUMG00000172709 uc002aty.3 M23725 NM_001206796 "CCDS92037|CCDS32284|CCDS92035|CCDS73752|CCDS32285|CCDS92036" P14618 2040271 MGI:97591 RGD:3337 179050 objectId:3006 2.7.1.40 HGNC:9021 "ENST00000335181.10|NM_002654.6" +HGNC:9021 PKM pyruvate kinase M1/2 protein-coding gene gene with protein product Approved 15q23 15q23 "THBP1|OIP3|PK3" PKM2 pyruvate kinase, muscle 2001-06-22 2012-05-23 2017-09-15 2023-03-15 5315 ENSG00000067225 OTTHUMG00000172709 uc002aty.3 M23725 NM_001206796 "CCDS92035|CCDS32284|CCDS73752|CCDS92037|CCDS92036|CCDS32285" P14618 2040271 MGI:97591 RGD:3337 179050 objectId:3006 2.7.1.40 HGNC:9021 "ENST00000335181.10|NM_002654.6" HGNC:44243 PKMP1 pyruvate kinase M1/2 pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 pyruvate kinase, muscle pseudogene 1 2012-07-25 2017-09-15 2017-09-15 643586 ENSG00000236480 OTTHUMG00000011897 NG_022800 PGOHUM00000259573 HGNC:44243 HGNC:44244 PKMP2 pyruvate kinase M1/2 pseudogene 2 pseudogene pseudogene Approved Xq12 Xq12 pyruvate kinase, muscle pseudogene 2 2012-07-25 2017-09-15 2017-09-15 402408 ENSG00000235892 OTTHUMG00000021735 NG_022667 PGOHUM00000260968 HGNC:44244 HGNC:44245 PKMP3 pyruvate kinase M1/2 pseudogene 3 pseudogene pseudogene Approved 6q14.3 06q14.3 pyruvate kinase, muscle pseudogene 3 2012-07-25 2017-09-15 2017-09-15 100419758 ENSG00000220563 OTTHUMG00000015143 NG_025841 PGOHUM00000243274 HGNC:44245 HGNC:44246 PKMP4 pyruvate kinase M1/2 pseudogene 4 pseudogene pseudogene Approved 8q21.11 08q21.11 pyruvate kinase, muscle pseudogene 4 2012-07-25 2017-09-15 2017-09-15 106480443 ENSG00000254023 OTTHUMG00000164549 NG_043399 PGOHUM00000249718 HGNC:44246 HGNC:44247 PKMP5 pyruvate kinase M1/2 pseudogene 5 pseudogene pseudogene Approved 6p25.1 06p25.1 pyruvate kinase, muscle pseudogene 5 2012-07-25 2017-09-15 2017-09-15 442156 ENSG00000215057 OTTHUMG00000014183 NG_022342 PGOHUM00000262463 HGNC:44247 -HGNC:29650 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MYT1|PPP1R126" "membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase|protein phosphatase 1, regulatory subunit 126" Protein phosphatase 1 regulatory subunits 694 2005-01-20 2023-01-20 9088 ENSG00000127564 OTTHUMG00000128975 uc059psg.1 AK097642 NM_004203 "CCDS58414|CCDS45391|CCDS10486|CCDS58415" Q99640 "9001210|12606722" MGI:2137630 RGD:1305434 602474 objectId:2167 HGNC:29650 "ENST00000262300.13|NM_004203.5" +HGNC:29650 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MYT1|PPP1R126" "membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase|protein phosphatase 1, regulatory subunit 126" Protein phosphatase 1 regulatory subunits 694 2005-01-20 2023-01-20 9088 ENSG00000127564 OTTHUMG00000128975 uc059psg.1 AK097642 NM_004203 "CCDS10486|CCDS58415|CCDS58414|CCDS45391" Q99640 "9001210|12606722" MGI:2137630 RGD:1305434 602474 objectId:2167 HGNC:29650 "ENST00000262300.13|NM_004203.5" +HGNC:56847 PKMYT1AR PKMYT1 associated lncRNA non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Long non-coding RNAs with non-systematic symbols 1992 2023-06-07 2023-06-07 130572098 ENSG00000268266 34856993 HGNC:9405 PKN1 protein kinase N1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "DBK|PRK1|PKN|MGC46204|PAK1" PRKCL1 protein kinase C-like 1 "C2 domain containing protein kinases|AGC family kinases" "835|1625" 1997-10-10 2004-07-01 2004-07-01 2023-01-20 5585 ENSG00000123143 OTTHUMG00000039611 uc002myp.4 S75546 "NM_002741|NM_213560" "CCDS42513|CCDS42514" Q16512 9570957 MGI:108022 RGD:69308 601032 objectId:1520 HGNC:9405 "ENST00000242783.11|NM_002741.5" -HGNC:9406 PKN2 protein kinase N2 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "PRK2|Pak-2|STK7" cardiolipin-activated protein kinase Pak2 PRKCL2 protein kinase C-like 2 "C2 domain containing protein kinases|AGC family kinases|Small nucleolar RNA protein coding host genes" "835|1625|1835" 1997-10-10 2004-07-01 2004-07-01 2023-01-20 5586 ENSG00000065243 OTTHUMG00000010074 uc001dmn.4 U33052 NM_006256 "CCDS81350|CCDS714" Q16513 "7988719|7851406" MGI:109211 RGD:620146 602549 objectId:1521 HGNC:9406 "ENST00000370521.8|NM_006256.4" +HGNC:9406 PKN2 protein kinase N2 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "PRK2|Pak-2|STK7" cardiolipin-activated protein kinase Pak2 PRKCL2 protein kinase C-like 2 "C2 domain containing protein kinases|AGC family kinases|Small nucleolar RNA protein coding host genes" "835|1625|1835" 1997-10-10 2004-07-01 2004-07-01 2023-01-20 5586 ENSG00000065243 OTTHUMG00000010074 uc001dmn.4 U33052 NM_006256 "CCDS714|CCDS81350" Q16513 "7988719|7851406" MGI:109211 RGD:620146 602549 objectId:1521 HGNC:9406 "ENST00000370521.8|NM_006256.4" HGNC:50597 PKN2-AS1 PKN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 Antisense RNAs 1987 2014-05-22 2014-05-22 101927891 ENSG00000237505 OTTHUMG00000010024 NR_110682 PKN2-AS1 HGNC:50597 HGNC:17999 PKN3 protein kinase N3 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "PKNbeta|UTDP4-1" "C2 domain containing protein kinases|Minor histocompatibility antigens|AGC family kinases" "835|870|1625" 2004-04-23 2023-01-20 29941 ENSG00000160447 OTTHUMG00000020757 uc004bvw.4 AB019692 NM_013355 CCDS6908 Q6P5Z2 10441506 MGI:2388285 RGD:1305921 610714 objectId:1522 HGNC:17999 "ENST00000291906.5|NM_013355.5" -HGNC:9022 PKNOX1 PBX/knotted 1 homeobox 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 PREP1 TALE class homeoboxes and pseudogenes 526 1997-03-19 2023-01-20 5316 ENSG00000160199 OTTHUMG00000086833 uc002zcq.3 NM_001286258 "CCDS13692|CCDS68211" P55347 9479508 MGI:1201409 RGD:1305003 602100 8493 HGNC:9022 "ENST00000291547.10|NM_004571.5" +HGNC:9022 PKNOX1 PBX/knotted 1 homeobox 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 PREP1 TALE class homeoboxes and pseudogenes 526 1997-03-19 2023-01-20 5316 ENSG00000160199 OTTHUMG00000086833 uc002zcq.3 NM_001286258 "CCDS68211|CCDS13692" P55347 9479508 MGI:1201409 RGD:1305003 602100 8493 HGNC:9022 "ENST00000291547.10|NM_004571.5" HGNC:16714 PKNOX2 PBX/knotted 1 homeobox 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 TALE class homeoboxes and pseudogenes 526 2001-10-01 2023-01-20 63876 ENSG00000165495 OTTHUMG00000165884 uc001qbu.4 AK023136 NM_001382323 CCDS41730 Q96KN3 11549286 MGI:2445415 RGD:1590611 613066 8546 HGNC:16714 "ENST00000298282.14|NM_001382323.2" HGNC:56709 PKNOX2-AS1 PKNOX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 AP001007.1 Antisense RNAs 1987 2023-01-20 2023-01-20 105369549 ENSG00000254932 XR_948137 33391355 HGNC:50690 PKNOX2-DT PKNOX2 divergent transcript non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 PKNOX2-AS1 PKNOX2 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-06-05 2021-03-17 2021-03-17 2021-03-17 103695364 ENSG00000254880 OTTHUMG00000165883 BP872841 NR_125759 PKNOX2-AS1 HGNC:50690 -HGNC:9023 PKP1 plakophilin 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 B6P ectodermal dysplasia/skin fragility syndrome plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) "Armadillo repeat containing|Plakophilins" "409|1541" 1996-10-18 2014-06-18 2023-01-20 5317 ENSG00000081277 OTTHUMG00000035729 uc001gwe.3 X79293 NM_000299 "CCDS30966|CCDS30967" Q13835 9272178 MGI:1328359 RGD:1307472 601975 117868 HGNC:9023 "ENST00000367324.8|NM_001005337.3" HGNC:9023 +HGNC:9023 PKP1 plakophilin 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 B6P ectodermal dysplasia/skin fragility syndrome plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) "Armadillo repeat containing|Plakophilins" "409|1541" 1996-10-18 2014-06-18 2023-01-20 5317 ENSG00000081277 OTTHUMG00000035729 uc001gwe.3 X79293 NM_000299 "CCDS30967|CCDS30966" Q13835 9272178 MGI:1328359 RGD:1307472 601975 117868 HGNC:9023 "ENST00000367324.8|NM_001005337.3" HGNC:9023 HGNC:9024 PKP2 plakophilin 2 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "Armadillo repeat containing|Plakophilins" "409|1541" 1997-08-28 2023-01-20 5318 ENSG00000057294 OTTHUMG00000169500 uc001rlk.5 X97675 NM_004572 "CCDS31771|CCDS8731" Q99959 8922383 MGI:1914701 RGD:1306533 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PKP2|LRG_398|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_398.xml" 602861 117871 HGNC:9024 "ENST00000340811.9|NM_001005242.3" HGNC:9024 HGNC:13413 PKP2P1 plakophilin 2 pseudogene 1 pseudogene pseudogene Approved 12p13 12p13 2003-10-14 2003-10-14 82500 NG_000936 10828611 HGNC:13413 HGNC:9025 PKP3 plakophilin 3 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "Armadillo repeat containing|Plakophilins" "409|1541" 1998-10-14 2023-01-20 11187 ENSG00000184363 OTTHUMG00000119068 uc001lpc.3 Z98265 NM_007183 CCDS7695 Q9Y446 10374265 MGI:1891830 RGD:1309133 605561 HGNC:9025 "ENST00000331563.7|NM_007183.4" HGNC:9026 PKP4 plakophilin 4 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 p0071 "Armadillo repeat containing|p120 catenin family" "409|1539" 1998-10-14 2023-01-20 8502 ENSG00000144283 OTTHUMG00000153969 uc002tzv.4 X81889 NM_001005476 "CCDS33305|CCDS33306" Q99569 "9342840|8937994" MGI:109281 RGD:1307840 604276 HGNC:9026 "ENST00000389759.8|NM_003628.6" HGNC:52580 PKP4-AS1 PKP4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.1 02q24.1 Antisense RNAs 1987 2016-11-08 2016-11-08 2016-11-08 100129029 ENSG00000204380 OTTHUMG00000153965 NR_135242 HGNC:52580 HGNC:42661 PKP4P1 plakophilin 4 pseudogene 1 pseudogene pseudogene Approved 2q34 02q34 2011-08-12 2011-08-12 402116 ENSG00000229670 OTTHUMG00000155516 NG_021602 PGOHUM00000241096 HGNC:42661 -HGNC:17661 PLA1A phospholipase A1 member A protein-coding gene gene with protein product Approved 3q13.33 03q13.33 ps-PLA1 phosphatidylserine-specific phospholipase A1 Phospholipases 467 2002-11-28 2023-01-20 51365 ENSG00000144837 OTTHUMG00000159425 uc003ecu.4 AF035268 NM_001206960 "CCDS2991|CCDS56268|CCDS77795|CCDS56269" Q53H76 10196188 MGI:1934677 RGD:621261 607460 HGNC:17661 "ENST00000273371.9|NM_015900.4" +HGNC:17661 PLA1A phospholipase A1 member A protein-coding gene gene with protein product Approved 3q13.33 03q13.33 ps-PLA1 phosphatidylserine-specific phospholipase A1 Phospholipases 467 2002-11-28 2023-01-20 51365 ENSG00000144837 OTTHUMG00000159425 uc003ecu.4 AF035268 NM_001206960 "CCDS56268|CCDS2991|CCDS77795|CCDS56269" Q53H76 10196188 MGI:1934677 RGD:621261 607460 HGNC:17661 "ENST00000273371.9|NM_015900.4" HGNC:9030 PLA2G1B phospholipase A2 group IB protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "PLA2|PPLA2|PLA2A" phospholipase A2, group IB (pancreas) Phospholipases 467 1986-01-01 2015-11-18 2023-01-20 5319 ENSG00000170890 OTTHUMG00000169343 uc001tyd.3 NM_000928 CCDS9195 P04054 8175726 MGI:101842 RGD:61949 172410 objectId:1416 3.1.1.4 HGNC:9030 "ENST00000308366.9|NM_000928.3" HGNC:9031 PLA2G2A phospholipase A2 group IIA protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "PLA2B|PLA2L" phospholipase A2, group IIA (platelets, synovial fluid) Phospholipases 467 1989-04-24 2015-11-18 2023-01-20 5320 ENSG00000188257 OTTHUMG00000002699 uc001bcv.4 BC005919 NM_000300 CCDS201 P14555 8838795 MGI:104642 RGD:620857 172411 objectId:1417 3.1.1.4 HGNC:9031 "ENST00000482011.3|NM_001395463.1" HGNC:9031 HGNC:9032 PLA2G2C phospholipase A2 group IIC protein-coding gene gene with protein product Approved 1p36.12 01p36.12 UBXN10-AS1 "phospholipase A2, group IIC (possible pseudogene)|phospholipase A2, group IIC|UBXN10 antisense RNA 1" Phospholipases 467 1998-09-07 2015-11-18 2023-03-15 391013 ENSG00000187980 OTTHUMG00000002705 uc009vpq.1 NM_001367969 CCDS90872 Q5R387 8838795 MGI:106638 RGD:3340 HGNC:9032 "ENST00000679259.1|NM_001367969.2" @@ -25798,11 +25801,11 @@ HGNC:9036 PLA2G4B phospholipase A2 group IVB protein-coding gene gene with prote HGNC:9037 PLA2G4C phospholipase A2 group IVC protein-coding gene gene with protein product Approved 19q13.33 19q13.33 cPLA2-gamma phospholipase A2, group IVC (cytosolic, calcium-independent) Phospholipases 467 1998-11-20 2015-11-18 2023-01-20 8605 ENSG00000105499 OTTHUMG00000183185 uc002phx.4 AF065214 NM_001159322 "CCDS12710|CCDS54286|CCDS59403" Q9UP65 9705332 MGI:1196403 RGD:1594658 603602 objectId:1426 3.1.1.4 HGNC:9037 "ENST00000599921.6|NM_003706.3" HGNC:51585 PLA2G4C-AS1 PLA2G4C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 Antisense RNAs 1987 2015-03-11 2015-03-11 106144526 ENSG00000269420 OTTHUMG00000183186 "AA318256|BU736556|EL953961" NR_132363 PLA2G4C-AS1 HGNC:51585 HGNC:30038 PLA2G4D phospholipase A2 group IVD protein-coding gene gene with protein product Approved 15q15.1 15q15.1 cPLA2delta phospholipase A2, group IVD (cytosolic) "Phospholipases|C2 domain containing phospholipases" "467|832" 2004-02-04 2015-11-18 2023-01-20 283748 ENSG00000159337 OTTHUMG00000172587 uc001zox.3 AB090876 NM_178034 CCDS32203 Q86XP0 14709560 MGI:1925640 RGD:1593372 612864 objectId:1427 3.1.1.4 HGNC:30038 "ENST00000290472.4|NM_178034.4" -HGNC:24791 PLA2G4E phospholipase A2 group IVE protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ45651 phospholipase A2, group IVE "Phospholipases|C2 domain containing phospholipases" "467|832" 2005-11-04 2015-11-18 2023-03-15 123745 ENSG00000188089 OTTHUMG00000130371 uc021sjp.2 NM_198442 "CCDS55962|CCDS91983" Q3MJ16 15866882 MGI:1919144 RGD:1310595 objectId:1428 3.1.1.4 HGNC:24791 "ENST00000696112.1|NM_001395548.1" +HGNC:24791 PLA2G4E phospholipase A2 group IVE protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ45651 phospholipase A2, group IVE "Phospholipases|C2 domain containing phospholipases" "467|832" 2005-11-04 2015-11-18 2023-03-15 123745 ENSG00000188089 OTTHUMG00000130371 uc021sjp.2 NM_198442 "CCDS91983|CCDS55962" Q3MJ16 15866882 MGI:1919144 RGD:1310595 objectId:1428 3.1.1.4 HGNC:24791 "ENST00000696112.1|NM_001395548.1" HGNC:51419 PLA2G4E-AS1 PLA2G4E antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 Antisense RNAs 1987 2014-11-21 2014-11-21 101928388 ENSG00000246740 OTTHUMG00000169509 BC043275 NR_120334 PLA2G4E-AS1 HGNC:51419 HGNC:27396 PLA2G4F phospholipase A2 group IVF protein-coding gene gene with protein product Approved 15q15.1 15q15.1 PLA2G4F/Z phospholipase A2, group IVF "Phospholipases|C2 domain containing phospholipases" "467|832" 2005-11-04 2015-11-18 2023-01-20 255189 ENSG00000168907 OTTHUMG00000172782 uc001zoz.4 NM_213600 CCDS32204 Q68DD2 "14702039|15866882" MGI:2685493 RGD:1593370 objectId:1429 3.1.1.4 HGNC:27396 "ENST00000397272.7|NM_213600.4" HGNC:9038 PLA2G5 phospholipase A2 group V protein-coding gene gene with protein product Approved 1p36.13 01p36.13 phospholipase A2, group V Phospholipases 467 1994-11-30 2015-11-18 2023-01-20 5322 ENSG00000127472 OTTHUMG00000002698 uc001bcy.4 U03090 NM_000929 CCDS202 P39877 "8838795|8300559" MGI:101899 RGD:62051 601192 286639 objectId:1430 3.1.1.4 HGNC:9038 "ENST00000375108.4|NM_000929.3" HGNC:9038 -HGNC:9039 PLA2G6 phospholipase A2 group VI protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "iPLA2|PNPLA9|PARK14|iPLA2beta|NBIA2" neurodegeneration with brain iron accumulation 2 phospholipase A2, group VI (cytosolic, calcium-independent) "Ankyrin repeat domain containing|Patatin like phospholipase domain containing|Phospholipases" "403|466|467" 1998-09-07 2015-11-18 2023-01-20 8398 ENSG00000184381 OTTHUMG00000151246 uc003auy.2 AF064594 NM_001004426 "CCDS13967|CCDS33645" O60733 "9417066|16799181|19029121" MGI:1859152 RGD:628867 LRG_1015|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1015.xml 603604 117873 objectId:1431 3.1.1.4 HGNC:9039 "ENST00000332509.8|NM_003560.4" HGNC:9039 +HGNC:9039 PLA2G6 phospholipase A2 group VI protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "iPLA2|PNPLA9|PARK14|iPLA2beta|NBIA2" neurodegeneration with brain iron accumulation 2 phospholipase A2, group VI (cytosolic, calcium-independent) "Ankyrin repeat domain containing|Patatin like phospholipase domain containing|Phospholipases" "403|466|467" 1998-09-07 2015-11-18 2023-01-20 8398 ENSG00000184381 OTTHUMG00000151246 uc003auy.2 AF064594 NM_001004426 "CCDS33645|CCDS13967" O60733 "9417066|16799181|19029121" MGI:1859152 RGD:628867 LRG_1015|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1015.xml 603604 117873 objectId:1431 3.1.1.4 HGNC:9039 "ENST00000332509.8|NM_003560.4" HGNC:9039 HGNC:9040 PLA2G7 phospholipase A2 group VII protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "PAFAH|LDL-PLA2" phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) Phospholipases 467 1999-09-20 2015-11-18 2023-01-20 7941 ENSG00000146070 OTTHUMG00000014789 uc021zae.2 U20157 NM_001168357 CCDS4917 Q13093 "7700381|8624782" MGI:1351327 RGD:1310734 601690 objectId:1432 3.1.1.4 HGNC:9040 "ENST00000274793.12|NM_005084.4" HGNC:9029 PLA2G10 phospholipase A2 group X protein-coding gene gene with protein product Approved 16p13.12 16p13.12 GXPLA2 phospholipase A2, group X Phospholipases 467 1998-09-07 2015-11-18 2023-01-20 8399 ENSG00000069764 OTTHUMG00000048069 uc002dcq.4 U95301 NM_003561 CCDS10555 O15496 9188469 MGI:1347522 RGD:61935 603603 objectId:1422 3.1.1.4 HGNC:9029 "ENST00000438167.8|NM_003561.3" HGNC:56598 PLA2G10BP phospholipase A2 group XB, pseudogene pseudogene pseudogene Approved 16p13.11 16p13.11 2022-11-04 2022-11-04 100652777 ENSG00000254609 PGOHUM00000293427 @@ -25820,7 +25823,7 @@ HGNC:18554 PLA2G12A phospholipase A2 group XIIA protein-coding gene gene with pr HGNC:39248 PLA2G12AP1 phospholipase A2 group XIIA pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 phospholipase A2, group XIIA pseudogene 1 2010-11-24 2015-11-18 2015-11-18 100420258 ENSG00000224680 OTTHUMG00000008103 NG_027094 PGOHUM00000244721 HGNC:39248 HGNC:39249 PLA2G12AP2 phospholipase A2 group XIIA pseudogene 2 pseudogene pseudogene Approved 13q13.3 13q13.3 phospholipase A2, group XIIA pseudogene 2 2010-11-24 2015-11-18 2015-11-18 100420281 ENSG00000225221 OTTHUMG00000016761 NG_024917 PGOHUM00000248570 HGNC:39249 HGNC:18555 PLA2G12B phospholipase A2 group XIIB protein-coding gene gene with protein product Approved 10q22.1 10q22.1 PLA2G13 "phospholipase A2, group XIII|phospholipase A2, group XIIB" Phospholipases 467 2002-04-26 2004-01-14 2015-11-18 2023-01-20 84647 ENSG00000138308 OTTHUMG00000018446 uc001jtf.2 AF349540 NM_032562 CCDS7319 Q9BX93 MGI:1917086 RGD:1588484 611653 3.1.1.4 HGNC:18555 "ENST00000373032.4|NM_032562.5" -HGNC:17163 PLA2G15 phospholipase A2 group XV protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "LLPL|GXVPLA2" LYPLA3 "lysophospholipase 3 (lysosomal phospholipase A2)|phospholipase A2, group XV" Phospholipases 467 2002-01-23 2008-09-19 2015-11-18 2023-01-20 23659 ENSG00000103066 OTTHUMG00000137554 uc002evr.4 AB017494 NM_012320 "CCDS92182|CCDS10864" Q8NCC3 "10092508|16973413" MGI:2178076 RGD:1302982 609362 HGNC:17163 "ENST00000219345.10|NM_012320.4" +HGNC:17163 PLA2G15 phospholipase A2 group XV protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "LLPL|GXVPLA2" LYPLA3 "lysophospholipase 3 (lysosomal phospholipase A2)|phospholipase A2, group XV" Phospholipases 467 2002-01-23 2008-09-19 2015-11-18 2023-01-20 23659 ENSG00000103066 OTTHUMG00000137554 uc002evr.4 AB017494 NM_012320 "CCDS10864|CCDS92182" Q8NCC3 "10092508|16973413" MGI:2178076 RGD:1302982 609362 HGNC:17163 "ENST00000219345.10|NM_012320.4" HGNC:9042 PLA2R1 phospholipase A2 receptor 1 protein-coding gene gene with protein product Approved 2q23-q24 02q23-q24 "PLA2G1R|PLA2IR|PLA2-R|CLEC13C" "phospholipase A2 receptor 1, 180kD|phospholipase A2 receptor 1, 180kDa" C-type lectin domain containing 1298 1999-10-05 2015-11-09 2023-01-20 22925 ENSG00000153246 OTTHUMG00000154087 uc002ube.3 U17033 NM_001007267 Q13018 "7721806|7925459" MGI:102468 RGD:1309777 604939 HGNC:9042 "ENST00000283243.13|NM_007366.5" HGNC:9043 PLAA phospholipase A2 activating protein protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "PLAP|PLA2P|FLJ11281|FLJ12699|DOA1" DOA1 homolog (S. cerevisiae) "WD repeat domain containing|Armadillo like helical domain containing" "362|1492" 1999-04-15 2016-02-12 2023-03-15 9373 ENSG00000137055 OTTHUMG00000019708 uc003zqd.4 AF083395 NM_001031689 CCDS35000 Q9Y263 "9931468|10644453" MGI:104810 RGD:621245 603873 HGNC:9043 "ENST00000397292.8|NM_001031689.3" HGNC:9043 HGNC:14922 PLAAT1 phospholipase A and acyltransferase 1 protein-coding gene gene with protein product Approved 3q29 03q29 "H-REV107|HRASLS1|A-C1|PLA/AT1|PLAAT-1" phospholipase A/acyltransferase 1 HRASLS HRAS like suppressor Phospholipase A and acyltransferase family 1227 2001-04-10 2019-02-14 2019-02-14 2023-01-20 57110 ENSG00000127252 OTTHUMG00000156104 uc003fta.5 AB030816 NM_001366112 CCDS3303 Q9HDD0 21880860 MGI:1351473 RGD:1309485 606487 "2.3.1.-|3.1.1.-" HGNC:14922 "ENST00000264735.4|NM_020386.5" @@ -25834,33 +25837,33 @@ HGNC:19254 PLAC8 placenta associated 8 protein-coding gene gene with protein pro HGNC:31746 PLAC8L1 PLAC8 like 1 protein-coding gene gene with protein product Approved 5q32 05q32 2004-07-12 2016-06-23 2023-01-20 153770 ENSG00000173261 OTTHUMG00000163418 uc003lnv.4 NM_001029869 CCDS34264 A1L4L8 MGI:1916651 RGD:1588513 HGNC:31746 "ENST00000311450.9|NM_001029869.3" HGNC:19255 PLAC9 placenta associated 9 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 placenta specific 9 2002-09-24 2019-02-21 2023-01-20 219348 ENSG00000189129 OTTHUMG00000018596 uc001kbp.2 NM_001012973 "CCDS86126|CCDS31232" Q5JTB6 30291214 "MGI:2663998|MGI:3711222" RGD:1306662 612857 HGNC:19255 "ENST00000372263.4|NM_001012973.3" HGNC:52678 PLAC9P1 placenta associated 9 pseudogene 1 pseudogene pseudogene Approved 2q21.1 02q21.1 placenta specific 9 pseudogene 1 2016-12-01 2019-02-21 2019-02-21 389033 ENSG00000214100 OTTHUMG00000153486 NR_026740 HGNC:52678 -HGNC:9045 PLAG1 PLAG1 zinc finger protein-coding gene gene with protein product Approved 8q12.1 08q12.1 ZNF912 pleiomorphic adenoma gene 1 Zinc fingers C2H2-type 28 1998-02-11 2015-12-16 2023-01-20 5324 ENSG00000181690 OTTHUMG00000164310 uc003xsr.5 U65002 NM_002655 "CCDS47860|CCDS6165" Q6DJT9 9268638 MGI:1891916 RGD:1305286 PLAG1 603026 458247 HGNC:9045 "ENST00000316981.8|NM_002655.3" -HGNC:9046 PLAGL1 PLAG1 like zinc finger 1 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "ZAC|LOT1" pleiomorphic adenoma gene-like 1 Zinc fingers C2H2-type 28 1998-02-17 2015-12-16 2023-01-20 5325 ENSG00000118495 OTTHUMG00000015738 uc003qkj.5 U81992 NM_001080951 "CCDS5203|CCDS5202" Q9UM63 "9722527|9671765" MGI:1100874 RGD:3014 LRG_1101|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1101.xml 603044 159813 HGNC:9046 "ENST00000674357.1|NM_001317162.2" HGNC:9046 +HGNC:9045 PLAG1 PLAG1 zinc finger protein-coding gene gene with protein product Approved 8q12.1 08q12.1 ZNF912 pleiomorphic adenoma gene 1 Zinc fingers C2H2-type 28 1998-02-11 2015-12-16 2023-01-20 5324 ENSG00000181690 OTTHUMG00000164310 uc003xsr.5 U65002 NM_002655 "CCDS6165|CCDS47860" Q6DJT9 9268638 MGI:1891916 RGD:1305286 PLAG1 603026 458247 HGNC:9045 "ENST00000316981.8|NM_002655.3" +HGNC:9046 PLAGL1 PLAG1 like zinc finger 1 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "ZAC|LOT1" pleiomorphic adenoma gene-like 1 Zinc fingers C2H2-type 28 1998-02-17 2015-12-16 2023-01-20 5325 ENSG00000118495 OTTHUMG00000015738 uc003qkj.5 U81992 NM_001080951 "CCDS5202|CCDS5203" Q9UM63 "9722527|9671765" MGI:1100874 RGD:3014 LRG_1101|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1101.xml 603044 159813 HGNC:9046 "ENST00000674357.1|NM_001317162.2" HGNC:9046 HGNC:9047 PLAGL2 PLAG1 like zinc finger 2 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 ZNF900 C2H2-type zinc finger protein pleiomorphic adenoma gene-like 2 Zinc fingers C2H2-type 28 1998-02-17 2015-12-16 2023-01-20 5326 ENSG00000126003 OTTHUMG00000032210 uc002wxn.3 NM_002657 CCDS13197 Q9UPG8 "15585652|17950244" MGI:1933165 RGD:1307999 604866 HGNC:9047 "ENST00000246229.5|NM_002657.3" -HGNC:9051 PLAT plasminogen activator, tissue type protein-coding gene gene with protein product Approved 8p11.21 08p11.21 plasminogen activator, tissue 2001-06-22 2016-01-11 2023-01-20 5327 ENSG00000104368 OTTHUMG00000164072 uc003xos.3 NM_000930 "CCDS83291|CCDS6126|CCDS6127" P00750 MGI:97610 RGD:3342 LRG_570|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_570.xml 173370 S01.232 objectId:2392 HGNC:9051 "ENST00000220809.9|NM_000930.5" HGNC:9051 -HGNC:9052 PLAU plasminogen activator, urokinase protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "URK|UPA" 2001-06-22 2023-01-20 5328 ENSG00000122861 OTTHUMG00000018494 uc001jwa.4 BC013575 NM_002658 "CCDS7339|CCDS44442" P00749 2415429 MGI:97611 RGD:3343 LRG_593|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_593.xml 191840 223447 S01.231 objectId:2393 3.4.21.68 HGNC:9052 "ENST00000372764.4|NM_002658.6" HGNC:9052 -HGNC:9053 PLAUR plasminogen activator, urokinase receptor protein-coding gene gene with protein product Approved 19q13 19q13 "URKR|UPAR|CD87" "urokinase-type plasminogen activator (uPA) receptor|urokinase plasminogen activator surface receptor" "CD molecules|LY6/PLAUR domain containing" "471|1226" 1991-06-05 2023-01-20 5329 ENSG00000011422 OTTHUMG00000182778 uc002oxf.3 NM_002659 "CCDS74386|CCDS12628|CCDS33041|CCDS33042" Q03405 MGI:97612 RGD:620597 LRG_637|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_637.xml 173391 CD87 HGNC:9053 "ENST00000340093.8|NM_002659.4" -HGNC:30041 PLB1 phospholipase B1 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "PLB|FLJ30866" Phospholipases 467 2004-01-29 2023-01-20 151056 ENSG00000163803 OTTHUMG00000152014 uc002rmb.3 NM_001170585 "CCDS54340|CCDS33168" Q6P1J6 12150957 MGI:1922406 RGD:621565 610179 "3.1.1.4|3.1.1.5" HGNC:30041 "ENST00000327757.10|NM_153021.5" +HGNC:9051 PLAT plasminogen activator, tissue type protein-coding gene gene with protein product Approved 8p11.21 08p11.21 plasminogen activator, tissue 2001-06-22 2016-01-11 2023-01-20 5327 ENSG00000104368 OTTHUMG00000164072 uc003xos.3 NM_000930 "CCDS83291|CCDS6127|CCDS6126" P00750 MGI:97610 RGD:3342 LRG_570|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_570.xml 173370 S01.232 objectId:2392 HGNC:9051 "ENST00000220809.9|NM_000930.5" HGNC:9051 +HGNC:9052 PLAU plasminogen activator, urokinase protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "URK|UPA" 2001-06-22 2023-01-20 5328 ENSG00000122861 OTTHUMG00000018494 uc001jwa.4 BC013575 NM_002658 "CCDS44442|CCDS7339" P00749 2415429 MGI:97611 RGD:3343 LRG_593|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_593.xml 191840 223447 S01.231 objectId:2393 3.4.21.68 HGNC:9052 "ENST00000372764.4|NM_002658.6" HGNC:9052 +HGNC:9053 PLAUR plasminogen activator, urokinase receptor protein-coding gene gene with protein product Approved 19q13 19q13 "URKR|UPAR|CD87" "urokinase-type plasminogen activator (uPA) receptor|urokinase plasminogen activator surface receptor" "CD molecules|LY6/PLAUR domain containing" "471|1226" 1991-06-05 2023-01-20 5329 ENSG00000011422 OTTHUMG00000182778 uc002oxf.3 NM_002659 "CCDS33042|CCDS74386|CCDS33041|CCDS12628" Q03405 MGI:97612 RGD:620597 LRG_637|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_637.xml 173391 CD87 HGNC:9053 "ENST00000340093.8|NM_002659.4" +HGNC:30041 PLB1 phospholipase B1 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "PLB|FLJ30866" Phospholipases 467 2004-01-29 2023-01-20 151056 ENSG00000163803 OTTHUMG00000152014 uc002rmb.3 NM_001170585 "CCDS33168|CCDS54340" Q6P1J6 12150957 MGI:1922406 RGD:621565 610179 "3.1.1.4|3.1.1.5" HGNC:30041 "ENST00000327757.10|NM_153021.5" HGNC:26215 PLBD1 phospholipase B domain containing 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 FLJ22662 PLB homolog 1 (Dictyostelium) 2009-02-24 2023-01-20 79887 ENSG00000121316 OTTHUMG00000168821 uc001rcc.2 BC000909 NM_024829 CCDS31751 Q6P4A8 "15193148|19019078" MGI:1914107 RGD:1308734 618486 HGNC:26215 "ENST00000240617.10|NM_024829.6" HGNC:51143 PLBD1-AS1 PLBD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.1-p12.3 12p13.1-p12.3 Antisense RNAs 1987 2014-07-30 2018-02-13 101928290 ENSG00000256751 OTTHUMG00000168733 NR_120465 PLBD1-AS1 HGNC:51143 HGNC:27283 PLBD2 phospholipase B domain containing 2 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 p76 "PLB homolog 2 (Dictyostelium)|mannose-6-phosphate protein associated protein p76" 2009-02-24 2023-01-20 196463 ENSG00000151176 OTTHUMG00000169567 uc001tve.3 BC030618 NM_173542 "CCDS9168|CCDS53834" Q8NHP8 "17105447|15193148|19019078" MGI:1919022 RGD:708461 620097 C95.001 HGNC:27283 "ENST00000280800.5|NM_173542.4" HGNC:15917 PLCB1 phospholipase C beta 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "KIAA0581|PLC-I|PLC154" phosphoinositide phospholipase C phospholipase C, beta 1 (phosphoinositide-specific) "Phospholipases|C2 domain containing phospholipases" "467|832" 2001-06-21 2015-11-18 2023-01-20 23236 ENSG00000182621 OTTHUMG00000031849 uc002wnb.5 AB011153 NM_015192 "CCDS13102|CCDS13103" Q9NQ66 "10760467|11118617" MGI:97613 RGD:3344 607120 258534 objectId:1403 3.1.4.11 HGNC:15917 "ENST00000338037.11|NM_015192.4" HGNC:15917 HGNC:41414 PLCB1-IT1 PLCB1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 PLCB1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2012-01-20 2015-02-25 2015-02-25 100874337 ENSG00000225479 OTTHUMG00000031846 uc061vib.1 NR_046809 PLCB1-IT1 HGNC:41414 -HGNC:9055 PLCB2 phospholipase C beta 2 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ38135 phospholipase C, beta 2 "Phospholipases|C2 domain containing phospholipases" "467|832" 1994-05-16 2015-11-18 2023-01-20 5330 ENSG00000137841 OTTHUMG00000172412 uc001zld.4 NM_001284297 "CCDS42020|CCDS73704|CCDS61592|CCDS61591" Q00722 "1644792|9925923" MGI:107465 RGD:621004 604114 objectId:1404 3.1.4.11 HGNC:9055 "ENST00000260402.8|NM_004573.3" +HGNC:9055 PLCB2 phospholipase C beta 2 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ38135 phospholipase C, beta 2 "Phospholipases|C2 domain containing phospholipases" "467|832" 1994-05-16 2015-11-18 2023-01-20 5330 ENSG00000137841 OTTHUMG00000172412 uc001zld.4 NM_001284297 "CCDS73704|CCDS61592|CCDS42020|CCDS61591" Q00722 "1644792|9925923" MGI:107465 RGD:621004 604114 objectId:1404 3.1.4.11 HGNC:9055 "ENST00000260402.8|NM_004573.3" HGNC:43662 PLCB2-AS1 PLCB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 PLCB2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2015-11-18 100874186 ENSG00000259307 OTTHUMG00000172413 uc059hrb.1 PLCB2-AS1 -HGNC:9056 PLCB3 phospholipase C beta 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 phospholipase C, beta 3 (phosphatidylinositol-specific) "Phospholipases|C2 domain containing phospholipases" "467|832" 1994-11-17 2015-11-18 2023-01-20 5331 ENSG00000149782 OTTHUMG00000167816 uc009ypi.4 Z26649 NM_000932 "CCDS53654|CCDS8064" Q01970 7849701 MGI:104778 RGD:61993 600230 objectId:1405 3.1.4.11 HGNC:9056 "ENST00000279230.12|NM_000932.5" HGNC:9056 -HGNC:9059 PLCB4 phospholipase C beta 4 protein-coding gene gene with protein product Approved 20p12.3-p12.2 20p12.3-p12.2 phospholipase C, beta 4 "Phospholipases|C2 domain containing phospholipases" "467|832" 1995-04-13 2015-11-18 2023-01-20 5332 ENSG00000101333 OTTHUMG00000031853 uc021wam.2 NM_000933 "CCDS54447|CCDS13105|CCDS93005|CCDS13104" Q15147 8530101 MGI:107464 RGD:3345 600810 302923 objectId:1406 3.1.4.11 HGNC:9059 "ENST00000378473.9|NM_001377142.1" HGNC:9059 +HGNC:9056 PLCB3 phospholipase C beta 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 phospholipase C, beta 3 (phosphatidylinositol-specific) "Phospholipases|C2 domain containing phospholipases" "467|832" 1994-11-17 2015-11-18 2023-01-20 5331 ENSG00000149782 OTTHUMG00000167816 uc009ypi.4 Z26649 NM_000932 "CCDS8064|CCDS53654" Q01970 7849701 MGI:104778 RGD:61993 600230 objectId:1405 3.1.4.11 HGNC:9056 "ENST00000279230.12|NM_000932.5" HGNC:9056 +HGNC:9059 PLCB4 phospholipase C beta 4 protein-coding gene gene with protein product Approved 20p12.3-p12.2 20p12.3-p12.2 phospholipase C, beta 4 "Phospholipases|C2 domain containing phospholipases" "467|832" 1995-04-13 2015-11-18 2023-01-20 5332 ENSG00000101333 OTTHUMG00000031853 uc021wam.2 NM_000933 "CCDS93005|CCDS13105|CCDS54447|CCDS13104" Q15147 8530101 MGI:107464 RGD:3345 600810 302923 objectId:1406 3.1.4.11 HGNC:9059 "ENST00000378473.9|NM_001377142.1" HGNC:9059 HGNC:9060 PLCD1 phospholipase C delta 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1|Phospholipase C δ1" phospholipase C, delta 1 "Phospholipases|C2 domain containing phospholipases|EF-hand domain containing" "467|832|863" 1997-05-09 2015-11-17 2023-01-20 5333 ENSG00000187091 OTTHUMG00000130813 uc003chn.4 NM_001130964 "CCDS46793|CCDS2671" P51178 9345909 MGI:97614 RGD:3346 602142 270352 objectId:1409 3.1.4.11 HGNC:9060 "ENST00000334661.5|NM_006225.4" HGNC:9060 HGNC:9061 PLCD3 phospholipase C delta 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 phospholipase C, delta 3 "Phospholipases|C2 domain containing phospholipases|MicroRNA protein coding host genes" "467|832|1691" 2000-05-31 2015-11-18 2023-01-20 113026 ENSG00000161714 OTTHUMG00000168029 uc032fjs.2 AC002117 NM_133373 CCDS74077 Q8N3E9 "10702670|9056492" MGI:107451 RGD:1310903 608795 objectId:1410 3.1.4.11 HGNC:9061 "ENST00000619929.5|NM_133373.5" HGNC:9062 PLCD4 phospholipase C delta 4 protein-coding gene gene with protein product Approved 2q35 02q35 phospholipase C, delta 4 "Phospholipases|C2 domain containing phospholipases|EF-hand domain containing" "467|832|863" 2000-05-31 2015-11-18 2023-01-20 84812 ENSG00000115556 OTTHUMG00000154743 uc061smf.1 AI366170 NM_032726 CCDS46516 Q9BRC7 "10702683|9056492" MGI:107469 RGD:621025 605939 objectId:1411 3.1.4.11 HGNC:9062 "ENST00000450993.7|NM_032726.4" -HGNC:17175 PLCE1 phospholipase C epsilon 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "KIAA1516|PLCE|NPHS3" "nephrosis type 3|phosphoinositide phospholipase C" phospholipase C, epsilon 1 "Phospholipases|C2 domain containing phospholipases" "467|832" 2002-02-18 2015-11-18 2023-01-20 51196 ENSG00000138193 OTTHUMG00000018789 uc001kjk.4 NM_016341 "CCDS91304|CCDS41552|CCDS53555" Q9P212 "11022047|11022048" MGI:1921305 RGD:69424 608414 159233 objectId:1412 3.1.4.11 HGNC:17175 "ENST00000371380.8|NM_016341.4" HGNC:17175 +HGNC:17175 PLCE1 phospholipase C epsilon 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "KIAA1516|PLCE|NPHS3" "nephrosis type 3|phosphoinositide phospholipase C" phospholipase C, epsilon 1 "Phospholipases|C2 domain containing phospholipases" "467|832" 2002-02-18 2015-11-18 2023-01-20 51196 ENSG00000138193 OTTHUMG00000018789 uc001kjk.4 NM_016341 "CCDS53555|CCDS91304|CCDS41552" Q9P212 "11022047|11022048" MGI:1921305 RGD:69424 608414 159233 objectId:1412 3.1.4.11 HGNC:17175 "ENST00000371380.8|NM_016341.4" HGNC:17175 HGNC:45193 PLCE1-AS1 PLCE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.33 10q23.33 Antisense RNAs 1987 2013-03-06 2013-03-06 100128054 ENSG00000268894 OTTHUMG00000018787 uc057uyv.1 NR_033969 PLCE1-AS1 HGNC:45193 HGNC:51206 PLCE1-AS2 PLCE1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10q23.33 10q23.33 Antisense RNAs 1987 2014-08-07 2014-08-07 101927049 ENSG00000232913 OTTHUMG00000018783 AK098548 NR_120615 PLCE1-AS2 HGNC:51206 HGNC:51906 PLCE1P1 phospholipase C epsilon 1 pseudogene 1 pseudogene pseudogene Approved Xp21.2 Xp21.2 phospholipase C, epsilon 1 pseudogene 1 2015-09-21 2015-11-18 2015-11-18 100420075 ENSG00000276940 OTTHUMG00000188010 NG_026667 PGOHUM00000304544 HGNC:51906 -HGNC:9065 PLCG1 phospholipase C gamma 1 protein-coding gene gene with protein product Approved 20q12 20q12 "PLC148|PLC-II|PLCgamma1|NCKAP3" PLC1 "phospholipase C, gamma 1 (formerly subtype 148)|phospholipase C, gamma 1" "Phospholipases|Pleckstrin homology domain containing|SH2 domain containing|C2 domain containing phospholipases|EF-hand domain containing|MicroRNA protein coding host genes" "467|682|741|832|863|1691" 1989-05-31 2015-11-18 2023-01-20 5335 ENSG00000124181 OTTHUMG00000033082 uc002xjo.2 M34667 NM_182811 "CCDS13314|CCDS13313" P19174 "2167438|3254788" MGI:97615 RGD:3347 PLCG1 172420 objectId:1407 3.1.4.11 HGNC:9065 "ENST00000685551.1|NM_002660.3" +HGNC:9065 PLCG1 phospholipase C gamma 1 protein-coding gene gene with protein product Approved 20q12 20q12 "PLC148|PLC-II|PLCgamma1|NCKAP3" PLC1 "phospholipase C, gamma 1 (formerly subtype 148)|phospholipase C, gamma 1" "Phospholipases|Pleckstrin homology domain containing|SH2 domain containing|C2 domain containing phospholipases|EF-hand domain containing|MicroRNA protein coding host genes" "467|682|741|832|863|1691" 1989-05-31 2015-11-18 2023-01-20 5335 ENSG00000124181 OTTHUMG00000033082 uc002xjo.2 M34667 NM_182811 "CCDS13313|CCDS13314" P19174 "2167438|3254788" MGI:97615 RGD:3347 PLCG1 172420 objectId:1407 3.1.4.11 HGNC:9065 "ENST00000685551.1|NM_002660.3" HGNC:40450 PLCG1-AS1 PLCG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q12 20q12 TOP1-AS1 Antisense RNAs 1987 2014-06-13 2014-11-19 101927117 ENSG00000226648 OTTHUMG00000032476 NR_109889 PLCG1-AS1 HGNC:40450 HGNC:9066 PLCG2 phospholipase C gamma 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 phospholipase C, gamma 2 (phosphatidylinositol-specific) "Phospholipases|SH2 domain containing|C2 domain containing phospholipases" "467|741|832" 1994-05-16 2015-11-18 2023-01-20 5336 ENSG00000197943 OTTHUMG00000176532 uc002fgt.4 NM_002661 CCDS42204 P16885 7835906 MGI:97616 RGD:3348 LRG_376|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_376.xml 600220 303819 objectId:1408 3.1.4.11 HGNC:9066 "ENST00000564138.6|NM_002661.5" HGNC:9066 -HGNC:29185 PLCH1 phospholipase C eta 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "KIAA1069|MGC117152|DKFZp434C1372|PLCeta1" 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 PLCL3 "phospholipase C-like 3|phospholipase C, eta 1" "Phospholipases|C2 domain containing phospholipases|EF-hand domain containing" "467|832|863" 2004-07-28 2006-03-16 2015-11-17 2023-01-20 23007 ENSG00000114805 OTTHUMG00000158477 uc062pfi.1 AB028992 NM_014996 "CCDS46940|CCDS46939|CCDS33881" Q4KWH8 15702972 MGI:2683547 RGD:1561991 612835 objectId:1414 3.1.4.11 HGNC:29185 "ENST00000460012.7|NM_014996.4" +HGNC:29185 PLCH1 phospholipase C eta 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "KIAA1069|MGC117152|DKFZp434C1372|PLCeta1" 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 PLCL3 "phospholipase C-like 3|phospholipase C, eta 1" "Phospholipases|C2 domain containing phospholipases|EF-hand domain containing" "467|832|863" 2004-07-28 2006-03-16 2015-11-17 2023-01-20 23007 ENSG00000114805 OTTHUMG00000158477 uc062pfi.1 AB028992 NM_014996 "CCDS33881|CCDS46940|CCDS46939" Q4KWH8 15702972 MGI:2683547 RGD:1561991 612835 objectId:1414 3.1.4.11 HGNC:29185 "ENST00000460012.7|NM_014996.4" HGNC:41231 PLCH1-AS1 PLCH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 PLCH1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874035 ENSG00000239508 OTTHUMG00000158476 uc062pfh.1 NR_046746 PLCH1-AS1 HGNC:41231 HGNC:41232 PLCH1-AS2 PLCH1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 PLCH1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874036 ENSG00000242925 OTTHUMG00000158497 uc062pfm.1 NR_146955 PLCH1-AS2 HGNC:41232 HGNC:29037 PLCH2 phospholipase C eta 2 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "KIAA0450|PLCeta2|RP3-395M20.1|PLC-eta2" 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 PLCL4 "phospholipase C-like 4|phospholipase C, eta 2" "Phospholipases|EF-hand domain containing" "467|863" 2004-07-28 2006-03-16 2015-11-17 2023-01-20 9651 ENSG00000149527 OTTHUMG00000000719 uc057bmp.1 AB007919 NM_014638 CCDS59959 O75038 15899900 MGI:2443078 RGD:1304675 612836 objectId:1415 3.1.4.11 HGNC:29037 "ENST00000378486.8|NM_014638.4" @@ -25871,113 +25874,113 @@ HGNC:23148 PLCXD1 phosphatidylinositol specific phospholipase C X domain contain HGNC:26462 PLCXD2 phosphatidylinositol specific phospholipase C X domain containing 2 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ31579 phosphatidylinositol-specific phospholipase C, X domain containing 2 2004-09-09 2016-01-27 2023-03-15 257068 ENSG00000240891 OTTHUMG00000159279 uc003dxz.3 AK056141 NM_153268 Q0VAA5 MGI:3647874 RGD:1563504 617015 HGNC:26462 "ENST00000477665.2|NM_001185106.1" HGNC:41145 PLCXD2-AS1 PLCXD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 PLCXD2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874115 ENSG00000240766 OTTHUMG00000159277 uc062mis.1 NR_046733 PLCXD2-AS1 HGNC:41145 HGNC:31822 PLCXD3 phosphatidylinositol specific phospholipase C X domain containing 3 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 phosphatidylinositol-specific phospholipase C, X domain containing 3 2004-09-09 2016-01-27 2023-01-20 345557 ENSG00000182836 OTTHUMG00000162076 uc063dgi.1 NM_001005473 CCDS34150 Q63HM9 MGI:2442605 RGD:1308448 617016 HGNC:31822 "ENST00000377801.8|NM_001005473.3" -HGNC:19218 PLCZ1 phospholipase C zeta 1 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "NYD-SP27|PLCzeta" phospholipase C, zeta 1 "Phospholipases|C2 domain containing phospholipases|EF-hand domain containing" "467|832|863" 2002-09-13 2015-11-18 2023-01-20 89869 ENSG00000139151 OTTHUMG00000168937 uc058lrt.1 AY035866 NM_033123 "CCDS81671|CCDS8680" Q86YW0 12117804 MGI:2150308 RGD:1359567 608075 470886 objectId:1413 3.1.4.11 HGNC:19218 "ENST00000266505.12|NM_033123.4" +HGNC:19218 PLCZ1 phospholipase C zeta 1 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "NYD-SP27|PLCzeta" phospholipase C, zeta 1 "Phospholipases|C2 domain containing phospholipases|EF-hand domain containing" "467|832|863" 2002-09-13 2015-11-18 2023-01-20 89869 ENSG00000139151 OTTHUMG00000168937 uc058lrt.1 AY035866 NM_033123 "CCDS8680|CCDS81671" Q86YW0 12117804 MGI:2150308 RGD:1359567 608075 470886 objectId:1413 3.1.4.11 HGNC:19218 "ENST00000266505.12|NM_033123.4" HGNC:9067 PLD1 phospholipase D1 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 choline phosphatase 1 phospholipase D1, phosphatidylcholine-specific "Phospholipases|Pleckstrin homology domain containing" "467|682" 1997-05-29 2015-11-18 2023-01-20 5337 ENSG00000075651 OTTHUMG00000156947 uc003fht.4 U38545 NM_002662 "CCDS3216|CCDS46957" Q13393 "9858822|8530346" MGI:109585 RGD:3349 602382 objectId:1433 3.1.4.4 HGNC:9067 "ENST00000351298.9|NM_002662.5" HGNC:9067 HGNC:9068 PLD2 phospholipase D2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 choline phosphatase 2 Phospholipases 467 1998-08-21 2023-01-20 5338 ENSG00000129219 OTTHUMG00000090779 uc002fzc.4 AF035483 NM_002663 "CCDS11057|CCDS58507" O14939 "9858823|9582313" MGI:892877 RGD:3350 602384 objectId:1434 3.1.4.4 HGNC:9068 "ENST00000263088.11|NM_002663.5" HGNC:17158 PLD3 phospholipase D family member 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HU-K4 "phospholipase D3|phospholipase D family, member 3" "Phospholipases|MicroRNA protein coding host genes" "467|1691" 2003-01-06 2015-11-18 2023-03-15 23646 ENSG00000105223 OTTHUMG00000152736 uc060yrn.1 BC000553 NM_012268 CCDS33027 Q8IV08 "9140189|15794758" MGI:1333782 RGD:1308248 615698 478190 HGNC:17158 "ENST00000409735.9|NM_012268.4" HGNC:17158 -HGNC:23792 PLD4 phospholipase D family member 4 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 C14orf175 "chromosome 14 open reading frame 175|phospholipase D family, member 4" Phospholipases 467 2004-06-11 2005-05-20 2015-11-18 2023-01-20 122618 ENSG00000166428 OTTHUMG00000144167 uc001ypu.2 NM_138790 "CCDS9995|CCDS76725" Q96BZ4 MGI:2144765 RGD:1598308 618488 HGNC:23792 "ENST00000392593.9|NM_138790.5" -HGNC:26879 PLD5 phospholipase D family member 5 protein-coding gene gene with protein product Approved 1q43 01q43 FLJ40773 phospholipase D family, member 5 Phospholipases 467 2005-05-20 2015-11-18 2023-01-20 200150 ENSG00000180287 OTTHUMG00000039867 uc057qtq.1 AK098092 NM_152666 "CCDS1621|CCDS55692" Q8N7P1 MGI:2442056 RGD:1562609 HGNC:26879 "ENST00000536534.7|NM_001372062.1" +HGNC:23792 PLD4 phospholipase D family member 4 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 C14orf175 "chromosome 14 open reading frame 175|phospholipase D family, member 4" Phospholipases 467 2004-06-11 2005-05-20 2015-11-18 2023-01-20 122618 ENSG00000166428 OTTHUMG00000144167 uc001ypu.2 NM_138790 "CCDS76725|CCDS9995" Q96BZ4 MGI:2144765 RGD:1598308 618488 HGNC:23792 "ENST00000392593.9|NM_138790.5" +HGNC:26879 PLD5 phospholipase D family member 5 protein-coding gene gene with protein product Approved 1q43 01q43 FLJ40773 phospholipase D family, member 5 Phospholipases 467 2005-05-20 2015-11-18 2023-01-20 200150 ENSG00000180287 OTTHUMG00000039867 uc057qtq.1 AK098092 NM_152666 "CCDS55692|CCDS1621" Q8N7P1 MGI:2442056 RGD:1562609 HGNC:26879 "ENST00000536534.7|NM_001372062.1" HGNC:55072 PLD5P1 PLD5 pseudogene 1 pseudogene pseudogene Approved 10p11.1 10p11.1 2020-06-11 2020-06-11 100420618 ENSG00000283930 NG_025485 HGNC:30447 PLD6 phospholipase D family member 6 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 Zuc Zucchini endoribonuclease phospholipase D family, member 6 Phospholipases 467 2008-08-14 2015-11-18 2023-01-20 201164 ENSG00000179598 OTTHUMG00000059278 uc002gqz.4 AK090899 NM_178836 CCDS11182 Q8N2A8 28063496 MGI:2687283 RGD:1311987 614960 HGNC:30447 "ENST00000321560.4|NM_178836.4" -HGNC:9069 PLEC plectin protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "PCN|PLTN" "EBS1|PLEC1" "plectin 1, intermediate filament binding protein, 500kD|epidermolysis bullosa simplex 1 (Ogna)|plectin 1, intermediate filament binding protein 500kDa" "Plakins|MicroRNA protein coding host genes" "939|1691" 1997-08-22 2010-02-04 2010-02-04 2023-01-20 5339 ENSG00000178209 OTTHUMG00000165291 uc064rfy.1 U53204 NM_000445 "CCDS43769|CCDS47936|CCDS43770|CCDS43773|CCDS43774|CCDS94359|CCDS43775|CCDS43771|CCDS43772" Q15149 "8633055|8696340" MGI:1277961 RGD:621649 601282 117877 HGNC:9069 "ENST00000345136.8|NM_201384.3" HGNC:9069 +HGNC:9069 PLEC plectin protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "PCN|PLTN" "EBS1|PLEC1" "plectin 1, intermediate filament binding protein, 500kD|epidermolysis bullosa simplex 1 (Ogna)|plectin 1, intermediate filament binding protein 500kDa" "Plakins|MicroRNA protein coding host genes" "939|1691" 1997-08-22 2010-02-04 2010-02-04 2023-01-20 5339 ENSG00000178209 OTTHUMG00000165291 uc064rfy.1 U53204 NM_000445 "CCDS43774|CCDS94359|CCDS43771|CCDS43773|CCDS43775|CCDS43772|CCDS43770|CCDS47936|CCDS43769" Q15149 "8633055|8696340" MGI:1277961 RGD:621649 601282 117877 HGNC:9069 "ENST00000345136.8|NM_201384.3" HGNC:9069 HGNC:9070 PLEK pleckstrin protein-coding gene gene with protein product Approved 2p14 02p14 "P47|PLEK1" Pleckstrin homology domain containing 682 1998-04-07 2023-01-20 5341 ENSG00000115956 OTTHUMG00000129562 uc002sen.5 X07743 NM_002664 CCDS1887 P08567 "2897630|12054651" MGI:1860485 RGD:1308269 173570 HGNC:9070 "ENST00000234313.8|NM_002664.3" HGNC:19238 PLEK2 pleckstrin 2 protein-coding gene gene with protein product Approved 14q23.3-q24.1 14q23.3-q24.1 Pleckstrin homology domain containing 682 2002-09-16 2023-01-20 26499 ENSG00000100558 OTTHUMG00000171247 uc001xjh.2 AF228603 NM_016445 CCDS9782 Q9NYT0 "11911883|17658464" MGI:1351466 RGD:1305786 608007 HGNC:19238 "ENST00000216446.9|NM_016445.3" -HGNC:14335 PLEKHA1 pleckstrin homology domain containing A1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 TAPP1 tandem PH domain containing protein-1 "pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1" "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2001-02-09 2015-11-18 2023-01-20 59338 ENSG00000107679 OTTHUMG00000019184 uc001lge.3 AF286160 NM_001001974 "CCDS81517|CCDS7629|CCDS55730" Q9HB21 "11001876|15485858" MGI:2442213 RGD:1564153 607772 HGNC:14335 "ENST00000368990.8|NM_001001974.4" -HGNC:14336 PLEKHA2 pleckstrin homology domain containing A2 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 TAPP2 tandem PH Domain containing protein-2 "pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2" Pleckstrin homology domain containing 682 2001-02-09 2015-11-18 2023-01-20 59339 ENSG00000169499 OTTHUMG00000164069 uc033bis.2 AF286164 NM_021623 "CCDS94287|CCDS75732" Q9HB19 11001876 MGI:1928144 RGD:1586710 607773 HGNC:14336 "ENST00000617275.5|NM_021623.2" +HGNC:14335 PLEKHA1 pleckstrin homology domain containing A1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 TAPP1 tandem PH domain containing protein-1 "pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1" "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2001-02-09 2015-11-18 2023-01-20 59338 ENSG00000107679 OTTHUMG00000019184 uc001lge.3 AF286160 NM_001001974 "CCDS7629|CCDS55730|CCDS81517" Q9HB21 "11001876|15485858" MGI:2442213 RGD:1564153 607772 HGNC:14335 "ENST00000368990.8|NM_001001974.4" +HGNC:14336 PLEKHA2 pleckstrin homology domain containing A2 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 TAPP2 tandem PH Domain containing protein-2 "pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2" Pleckstrin homology domain containing 682 2001-02-09 2015-11-18 2023-01-20 59339 ENSG00000169499 OTTHUMG00000164069 uc033bis.2 AF286164 NM_021623 "CCDS75732|CCDS94287" Q9HB19 11001876 MGI:1928144 RGD:1586710 607773 HGNC:14336 "ENST00000617275.5|NM_021623.2" HGNC:14338 PLEKHA3 pleckstrin homology domain containing A3 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 FAPP1 four-phosphate-adaptor protein 1 "pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3" Pleckstrin homology domain containing 682 2001-02-09 2015-11-18 2023-01-20 65977 ENSG00000116095 OTTHUMG00000154446 uc002umn.4 AF286162 NM_019091 CCDS33336 Q9HB20 "11001876|15107860" MGI:1932515 RGD:1305244 607774 HGNC:14338 "ENST00000234453.10|NM_019091.4" HGNC:19648 PLEKHA3P1 pleckstrin homology domain containing A3 pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 PLEKHA3P "pleckstrin homology domain-containing, family A member 3 pseudogene 1|pleckstrin homology domain containing, family A member 3 pseudogene 1" 2003-04-23 2015-11-18 2015-11-18 91405 ENSG00000269800 OTTHUMG00000182622 NG_000949 PGOHUM00000259335 HGNC:19648 -HGNC:14339 PLEKHA4 pleckstrin homology domain containing A4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PEPP1 pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4 Pleckstrin homology domain containing 682 2001-02-09 2015-11-18 2023-01-20 57664 ENSG00000105559 OTTHUMG00000183329 uc002pkx.4 AY007233 NM_001161354 "CCDS54291|CCDS12737" Q9H4M7 11001876 MGI:1916467 RGD:735133 607769 HGNC:14339 "ENST00000263265.11|NM_020904.3" -HGNC:30036 PLEKHA5 pleckstrin homology domain containing A5 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "PEPP2|KIAA1686|FLJ10667" pleckstrin homology domain containing, family A member 5 Pleckstrin homology domain containing 682 2004-07-30 2015-11-18 2023-01-20 54477 ENSG00000052126 OTTHUMG00000167921 uc001reb.4 AF302150 NM_019012 "CCDS58213|CCDS8682|CCDS91660|CCDS91659|CCDS58214|CCDS55809|CCDS44840" Q9HAU0 "11214970|11001876" MGI:1923802 RGD:621175 607770 HGNC:30036 "ENST00000429027.7|NM_001256470.2" +HGNC:14339 PLEKHA4 pleckstrin homology domain containing A4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PEPP1 pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4 Pleckstrin homology domain containing 682 2001-02-09 2015-11-18 2023-01-20 57664 ENSG00000105559 OTTHUMG00000183329 uc002pkx.4 AY007233 NM_001161354 "CCDS12737|CCDS54291" Q9H4M7 11001876 MGI:1916467 RGD:735133 607769 HGNC:14339 "ENST00000263265.11|NM_020904.3" +HGNC:30036 PLEKHA5 pleckstrin homology domain containing A5 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "PEPP2|KIAA1686|FLJ10667" pleckstrin homology domain containing, family A member 5 Pleckstrin homology domain containing 682 2004-07-30 2015-11-18 2023-01-20 54477 ENSG00000052126 OTTHUMG00000167921 uc001reb.4 AF302150 NM_019012 "CCDS58213|CCDS58214|CCDS55809|CCDS8682|CCDS91660|CCDS44840|CCDS91659" Q9HAU0 "11214970|11001876" MGI:1923802 RGD:621175 607770 HGNC:30036 "ENST00000429027.7|NM_001256470.2" HGNC:17053 PLEKHA6 pleckstrin homology domain containing A6 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "PEPP3|KIAA0969" pleckstrin homology domain containing, family A member 6 Pleckstrin homology domain containing 682 2004-07-30 2015-11-18 2023-01-20 22874 ENSG00000143850 OTTHUMG00000036057 uc001hau.5 AB023186 NM_014935 CCDS1444 Q9Y2H5 11001876 MGI:2388662 RGD:1564395 607771 470888 HGNC:17053 "ENST00000272203.8|NM_014935.5" HGNC:17053 -HGNC:27049 PLEKHA7 pleckstrin homology domain containing A7 protein-coding gene gene with protein product Approved 11p15 11p15 DKFZp686M22243 pleckstrin homology domain containing, family A member 7 Pleckstrin homology domain containing 682 2004-09-01 2015-11-18 2023-01-20 144100 ENSG00000166689 OTTHUMG00000165954 uc001mmo.4 BC033239 NM_175058 "CCDS31434|CCDS86182|CCDS91448" Q6IQ23 20808826 MGI:2445094 RGD:1598216 612686 HGNC:27049 "ENST00000531066.6|NM_001329630.2" -HGNC:30037 PLEKHA8 pleckstrin homology domain containing A8 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "FAPP2|MGC3358" pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 Pleckstrin homology domain containing 682 2004-09-16 2015-11-18 2023-01-20 84725 ENSG00000106086 OTTHUMG00000097751 uc003taq.4 BC053990 NM_032639 "CCDS75574|CCDS56473|CCDS5424|CCDS87490|CCDS87489" Q96JA3 11001876 MGI:2681164 RGD:1563940 608639 HGNC:30037 "ENST00000449726.6|NM_001197026.2" +HGNC:27049 PLEKHA7 pleckstrin homology domain containing A7 protein-coding gene gene with protein product Approved 11p15 11p15 DKFZp686M22243 pleckstrin homology domain containing, family A member 7 Pleckstrin homology domain containing 682 2004-09-01 2015-11-18 2023-01-20 144100 ENSG00000166689 OTTHUMG00000165954 uc001mmo.4 BC033239 NM_175058 "CCDS86182|CCDS91448|CCDS31434" Q6IQ23 20808826 MGI:2445094 RGD:1598216 612686 HGNC:27049 "ENST00000531066.6|NM_001329630.2" +HGNC:30037 PLEKHA8 pleckstrin homology domain containing A8 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "FAPP2|MGC3358" pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 Pleckstrin homology domain containing 682 2004-09-16 2015-11-18 2023-01-20 84725 ENSG00000106086 OTTHUMG00000097751 uc003taq.4 BC053990 NM_032639 "CCDS56473|CCDS5424|CCDS87490|CCDS75574|CCDS87489" Q96JA3 11001876 MGI:2681164 RGD:1563940 608639 HGNC:30037 "ENST00000449726.6|NM_001197026.2" HGNC:30222 PLEKHA8P1 pleckstrin homology domain containing A8 pseudogene 1 pseudogene pseudogene Approved 12q12 12q12 FLJ14156 putative glycolipid transfer protein PLEKHA9 "pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9|pleckstrin homology domain containing, family A member 8 pseudogene 1" 2004-09-16 2010-11-24 2015-11-18 2023-03-15 51054 ENSG00000134297 AF103731 NR_037144 O95397 12477932 MGI:2681164 HGNC:30222 -HGNC:19079 PLEKHB1 pleckstrin homology domain containing B1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "PHR1|KPL1" PHRET1 "PH domain containing, retinal 1|pleckstrin homology domain containing, family B (evectins) member 1" Pleckstrin homology domain containing 682 2002-08-06 2002-11-08 2015-11-18 2023-01-20 58473 ENSG00000021300 OTTHUMG00000168030 uc001oua.3 AF081583 NM_001130033 "CCDS44673|CCDS44674|CCDS44675|CCDS44672" Q9UF11 10585447 MGI:1351469 RGD:621614 607651 HGNC:19079 "ENST00000354190.10|NM_021200.3" -HGNC:19236 PLEKHB2 pleckstrin homology domain containing B2 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "EVT2|FLJ20783" pleckstrin homology domain containing, family B (evectins) member 2 Pleckstrin homology domain containing 682 2002-11-04 2015-11-18 2023-03-15 55041 ENSG00000115762 OTTHUMG00000131656 uc002tsj.5 NM_017958 "CCDS58731|CCDS58729|CCDS74576|CCDS2166|CCDS46413|CCDS74577|CCDS58730" Q96CS7 10200314 MGI:2385825 RGD:1310954 618452 HGNC:19236 "ENST00000693505.1|NM_001100623.2" +HGNC:19079 PLEKHB1 pleckstrin homology domain containing B1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "PHR1|KPL1" PHRET1 "PH domain containing, retinal 1|pleckstrin homology domain containing, family B (evectins) member 1" Pleckstrin homology domain containing 682 2002-08-06 2002-11-08 2015-11-18 2023-01-20 58473 ENSG00000021300 OTTHUMG00000168030 uc001oua.3 AF081583 NM_001130033 "CCDS44673|CCDS44674|CCDS44672|CCDS44675" Q9UF11 10585447 MGI:1351469 RGD:621614 607651 HGNC:19079 "ENST00000354190.10|NM_021200.3" +HGNC:19236 PLEKHB2 pleckstrin homology domain containing B2 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "EVT2|FLJ20783" pleckstrin homology domain containing, family B (evectins) member 2 Pleckstrin homology domain containing 682 2002-11-04 2015-11-18 2023-03-15 55041 ENSG00000115762 OTTHUMG00000131656 uc002tsj.5 NM_017958 "CCDS58729|CCDS58730|CCDS46413|CCDS58731|CCDS74577|CCDS74576|CCDS2166" Q96CS7 10200314 MGI:2385825 RGD:1310954 618452 HGNC:19236 "ENST00000693505.1|NM_001100623.2" HGNC:56814 PLEKHB2P1 PLEKHB2 pseudogene 1 pseudogene pseudogene Approved 18q21.32 18q21.32 2023-04-19 2023-04-19 100128022 ENSG00000267066 NG_030066 PGOHUM00000294801 HGNC:20148 PLEKHD1 pleckstrin homology and coiled-coil domain containing D1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 UPF0639 "pleckstrin homology domain containing, family D (with M protein repeats) member 1|pleckstrin homology domain containing, family D (with coiled-coil domains) member 1" Pleckstrin homology domain containing 682 2002-12-18 2015-11-18 2023-01-20 400224 ENSG00000175985 OTTHUMG00000171233 uc010ttf.2 AK126770 NM_001161498 CCDS53903 A6NEE1 MGI:3036228 RGD:1566112 HGNC:20148 "ENST00000322564.9|NM_001161498.2" HGNC:20764 PLEKHF1 pleckstrin homology and FYVE domain containing 1 protein-coding gene gene with protein product Approved 19q12 19q12 "APPD|MGC4090|PHAFIN1|ZFYVE15" pleckstrin homology domain containing, family F (with FYVE domain) member 1 "Zinc fingers FYVE-type|Pleckstrin homology domain containing" "81|682" 2003-04-01 2015-11-18 2023-01-20 79156 ENSG00000166289 OTTHUMG00000182097 uc002nsh.5 AF434818 NM_024310 CCDS12417 Q96S99 MGI:1919537 RGD:1310544 615200 HGNC:20764 "ENST00000436066.4|NM_024310.5" HGNC:20757 PLEKHF2 pleckstrin homology and FYVE domain containing 2 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "ZFYVE18|PHAFIN2|FLJ13187" pleckstrin homology domain containing, family F (with FYVE domain) member 2 "Zinc fingers FYVE-type|Pleckstrin homology domain containing" "81|682" 2003-04-01 2015-11-18 2023-01-20 79666 ENSG00000175895 OTTHUMG00000164660 uc003yhn.3 AF434819 NM_024613 CCDS6267 Q9H8W4 MGI:1919051 RGD:1312029 615208 HGNC:20757 "ENST00000315367.4|NM_024613.4" HGNC:20884 PLEKHG1 pleckstrin homology and RhoGEF domain containing G1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "KIAA1209|ARHGEF41" pleckstrin homology domain containing, family G (with RhoGef domain) member 1 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2003-04-23 2015-11-18 2023-01-20 57480 ENSG00000120278 OTTHUMG00000015824 uc003qny.1 AB033035 NM_001029884 CCDS34552 Q9ULL1 10574462 MGI:2676551 RGD:1583676 620134 HGNC:20884 "ENST00000696526.1|NM_001029884.3" -HGNC:29515 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "CLG|FLJ00018|ARHGEF42" pleckstrin homology domain containing, family G (with RhoGef domain) member 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2004-12-01 2015-11-18 2023-01-20 64857 ENSG00000090924 OTTHUMG00000152570 uc010xuz.3 AK024429 NM_022835 "CCDS86767|CCDS86766|CCDS33022" Q9H7P9 "11839748|18045877" MGI:2141874 RGD:1310112 611893 HGNC:29515 "ENST00000425673.6|NM_022835.3" HGNC:29515 +HGNC:29515 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "CLG|FLJ00018|ARHGEF42" pleckstrin homology domain containing, family G (with RhoGef domain) member 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2004-12-01 2015-11-18 2023-01-20 64857 ENSG00000090924 OTTHUMG00000152570 uc010xuz.3 AK024429 NM_022835 "CCDS86767|CCDS33022|CCDS86766" Q9H7P9 "11839748|18045877" MGI:2141874 RGD:1310112 611893 HGNC:29515 "ENST00000425673.6|NM_022835.3" HGNC:29515 HGNC:20364 PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 ARHGEF43 KIAA0599 "KIAA0599|pleckstrin homology domain containing, family G (with RhoGef domain) member 3" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2003-11-21 2004-12-01 2015-11-18 2023-03-15 26030 ENSG00000126822 OTTHUMG00000029671 uc001xho.3 AB011171 NM_015549 CCDS76690 A1L390 MGI:2388284 RGD:1308089 617940 HGNC:20364 "ENST00000247226.13|NM_001308147.2" HGNC:24501 PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "DKFZP434I216|ARHGEF44" puratrophin-1 SCA4 "spinocerebellar ataxia 4|pleckstrin homology domain containing, family G (with RhoGef domain) member 4" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2005-03-09 2015-11-18 2023-01-20 25894 ENSG00000196155 OTTHUMG00000172936 uc002eso.5 AK024475 NM_015432 "CCDS45512|CCDS32466" Q58EX7 "16491300|16001362" MGI:2142544 RGD:1310790 609526 117882 HGNC:24501 "ENST00000379344.8|NM_001129729.3" -HGNC:29399 PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B protein-coding gene gene with protein product Approved 5p15.33 05p15.33 KIAA1909 pleckstrin homology domain containing, family G (with RhoGef domain) member 4B "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2007-12-14 2015-11-18 2023-06-05 153478 ENSG00000153404 OTTHUMG00000161570 uc003jak.3 BC008352 NM_052909 CCDS34124 Q96PX9 "11572484|33310911" HGNC:29399 "ENST00000637938.2|NM_052909.5" -HGNC:29105 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "KIAA0720|Syx|GEF720|Tech" synectin-binding guanine exchange factor pleckstrin homology domain containing, family G (with RhoGef domain) member 5 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2005-05-23 2005-08-09 2015-11-18 2023-06-05 57449 ENSG00000171680 OTTHUMG00000000905 uc001anm.3 AK024676 NM_020631 "CCDS57968|CCDS79|CCDS57967|CCDS41241" O94827 "11704860|17564964|30446627" MGI:2652860 RGD:1303132 LRG_262|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_262.xml 611101 167889 HGNC:29105 "ENST00000377728.8|NM_020631.6" HGNC:29105 -HGNC:25562 PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "FLJ10665|MYOGEF" myosin II interacting GEF pleckstrin homology domain containing, family G (with RhoGef domain) member 6 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2005-05-23 2015-11-18 2023-03-15 55200 ENSG00000008323 OTTHUMG00000168266 uc001qnr.4 AK001527 NM_018173 "CCDS91644|CCDS8541" Q3KR16 "16721066|17881735" MGI:2682298 RGD:2318544 611743 HGNC:25562 "ENST00000684764.1|NM_001384598.1" -HGNC:33829 PLEKHG7 pleckstrin homology and RhoGEF domain containing G7 protein-coding gene gene with protein product Approved 12q22 12q22 FLJ46688 C12orf74 "pleckstrin homology domain containing, family G (with RhoGef domain) member 7|chromosome 12 open reading frame 74" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2007-12-14 2015-11-18 2023-03-15 440107 ENSG00000187510 OTTHUMG00000170106 uc001tcj.3 AK128530 NM_001004330 "CCDS53818|CCDS91737|CCDS41819" Q6ZR37 RGD:7576392 HGNC:33829 "ENST00000344636.6|NM_001377329.1" +HGNC:29399 PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "KIAA1909|ARHGEF48" pleckstrin homology domain containing, family G (with RhoGef domain) member 4B "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2007-12-14 2015-11-18 2023-06-08 153478 ENSG00000153404 OTTHUMG00000161570 uc003jak.3 BC008352 NM_052909 CCDS34124 Q96PX9 "11572484|33310911" HGNC:29399 "ENST00000637938.2|NM_052909.5" +HGNC:29105 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "KIAA0720|Syx|GEF720|Tech|ARHGEF45" synectin-binding guanine exchange factor pleckstrin homology domain containing, family G (with RhoGef domain) member 5 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2005-05-23 2005-08-09 2015-11-18 2023-06-08 57449 ENSG00000171680 OTTHUMG00000000905 uc001anm.3 AK024676 NM_020631 "CCDS57967|CCDS41241|CCDS79|CCDS57968" O94827 "11704860|17564964|30446627" MGI:2652860 RGD:1303132 LRG_262|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_262.xml 611101 167889 HGNC:29105 "ENST00000377728.8|NM_020631.6" HGNC:29105 +HGNC:25562 PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "FLJ10665|MYOGEF|ARHGEF46" myosin II interacting GEF pleckstrin homology domain containing, family G (with RhoGef domain) member 6 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2005-05-23 2015-11-18 2023-06-08 55200 ENSG00000008323 OTTHUMG00000168266 uc001qnr.4 AK001527 NM_018173 "CCDS91644|CCDS8541" Q3KR16 "16721066|17881735|25336641" MGI:2682298 RGD:2318544 611743 HGNC:25562 "ENST00000684764.1|NM_001384598.1" +HGNC:33829 PLEKHG7 pleckstrin homology and RhoGEF domain containing G7 protein-coding gene gene with protein product Approved 12q22 12q22 FLJ46688 C12orf74 "pleckstrin homology domain containing, family G (with RhoGef domain) member 7|chromosome 12 open reading frame 74" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2007-12-14 2015-11-18 2023-06-08 440107 ENSG00000187510 OTTHUMG00000170106 uc001tcj.3 AK128530 NM_001004330 "CCDS41819|CCDS91737|CCDS53818" Q6ZR37 RGD:7576392 HGNC:33829 "ENST00000344636.6|NM_001377329.1" HGNC:17733 PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 KIAA1200 pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 "Pleckstrin homology domain containing|FERM domain containing" "682|1293" 2003-10-09 2015-11-18 2023-01-20 57475 ENSG00000054690 OTTHUMG00000171272 uc001xjl.2 AB033026 NM_020715 CCDS45128 Q9ULM0 10574462 MGI:2144989 RGD:1308362 HGNC:17733 "ENST00000329153.10|NM_020715.3" HGNC:30506 PLEKHH2 pleckstrin homology, MyTH4 and FERM domain containing H2 protein-coding gene gene with protein product Approved 2p21 02p21 "KIAA2028|PLEKHH1L" pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 "Pleckstrin homology domain containing|FERM domain containing" "682|1293" 2004-07-30 2015-11-18 2023-01-20 130271 ENSG00000152527 OTTHUMG00000128657 uc010yny.3 AB095948 NM_172069 CCDS1812 Q8IVE3 MGI:2146813 RGD:1304935 612723 HGNC:30506 "ENST00000282406.9|NM_172069.4" -HGNC:26105 PLEKHH3 pleckstrin homology, MyTH4 and FERM domain containing H3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 FLJ21019 pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 "Pleckstrin homology domain containing|FERM domain containing" "682|1293" 2006-01-26 2015-11-18 2023-01-20 79990 ENSG00000068137 OTTHUMG00000180641 uc002iau.5 BC052978 NM_024927 "CCDS92327|CCDS11434" Q7Z736 12477932 MGI:2384950 RGD:1304854 HGNC:26105 "ENST00000591022.6|NM_024927.5" +HGNC:26105 PLEKHH3 pleckstrin homology, MyTH4 and FERM domain containing H3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 FLJ21019 pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 "Pleckstrin homology domain containing|FERM domain containing" "682|1293" 2006-01-26 2015-11-18 2023-01-20 79990 ENSG00000068137 OTTHUMG00000180641 uc002iau.5 BC052978 NM_024927 "CCDS11434|CCDS92327" Q7Z736 12477932 MGI:2384950 RGD:1304854 HGNC:26105 "ENST00000591022.6|NM_024927.5" HGNC:18211 PLEKHJ1 pleckstrin homology domain containing J1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ10297 guanine nucleotide releasing protein x pleckstrin homology domain containing, family J member 1 "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2004-02-13 2015-11-18 2023-01-20 55111 ENSG00000104886 OTTHUMG00000180425 uc002lvf.2 AK001159 NM_018049 "CCDS12083|CCDS74251" Q9NW61 11602354 MGI:1925920 RGD:1307213 617834 HGNC:18211 "ENST00000326631.7|NM_018049.3" -HGNC:29017 PLEKHM1 pleckstrin homology and RUN domain containing M1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 KIAA0356 pleckstrin homology domain containing, family M (with RUN domain) member 1 Pleckstrin homology domain containing 682 2004-02-27 2015-11-18 2023-01-20 9842 ENSG00000225190 OTTHUMG00000179074 uc002ija.4 X85792 NM_014798 "CCDS32671|CCDS92344" Q9Y4G2 "9205841|12820725|27777970" MGI:2443207 RGD:1308010 611466 212898 HGNC:29017 "ENST00000430334.8|NM_014798.3" HGNC:29017 +HGNC:29017 PLEKHM1 pleckstrin homology and RUN domain containing M1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 KIAA0356 pleckstrin homology domain containing, family M (with RUN domain) member 1 Pleckstrin homology domain containing 682 2004-02-27 2015-11-18 2023-01-20 9842 ENSG00000225190 OTTHUMG00000179074 uc002ija.4 X85792 NM_014798 "CCDS92344|CCDS32671" Q9Y4G2 "9205841|12820725|27777970" MGI:2443207 RGD:1308010 611466 212898 HGNC:29017 "ENST00000430334.8|NM_014798.3" HGNC:29017 HGNC:35411 PLEKHM1P1 pleckstrin homology and RUN domain containing M1 pseudogene 1 pseudogene pseudogene Approved 17q24.1 17q24.1 LOC440456 PLEKHM1P pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene 2009-01-09 2015-11-18 2015-11-18 2015-11-18 440456 ENSG00000214176 OTTHUMG00000179296 NR_024386 HGNC:35411 HGNC:29131 PLEKHM2 pleckstrin homology and RUN domain containing M2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 KIAA0842 pleckstrin homology domain containing, family M (with RUN domain) member 2 Pleckstrin homology domain containing 682 2004-02-27 2015-11-18 2023-01-20 23207 ENSG00000116786 OTTHUMG00000003062 uc010obo.2 AB020649 NM_015164 "CCDS90868|CCDS44063" Q8IWE5 10048485 MGI:1916832 RGD:1307005 609613 HGNC:29131 "ENST00000375799.8|NM_015164.4" HGNC:29131 HGNC:34006 PLEKHM3 pleckstrin homology domain containing M3 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 DAPR differentiation associated protein PLEKHM1L "pleckstrin homology domain containing, family M, member 1-like|pleckstrin homology domain containing, family M, member 3" Pleckstrin homology domain containing 682 2008-02-28 2008-04-03 2015-11-18 2023-01-20 389072 ENSG00000178385 OTTHUMG00000154781 uc002vcl.3 AK057612 NM_001080475 CCDS42808 Q6ZWE6 19028694 MGI:2443627 RGD:1307151 619186 HGNC:34006 "ENST00000427836.8|NM_001080475.3" HGNC:25284 PLEKHN1 pleckstrin homology domain containing N1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 DKFZP434H2010 pleckstrin homology domain containing, family N member 1 Pleckstrin homology domain containing 682 2005-06-03 2015-11-18 2023-01-20 84069 ENSG00000187583 OTTHUMG00000040756 uc001acd.4 AL136730 NM_032129 "CCDS53256|CCDS4|CCDS90835" Q494U1 11230166 MGI:2387630 RGD:1311019 HGNC:25284 "ENST00000379410.8|NM_032129.3" HGNC:24310 PLEKHO1 pleckstrin homology domain containing O1 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "CKIP-1|OC120" pleckstrin homology domain containing, family O member 1 Pleckstrin homology domain containing 682 2005-11-28 2015-11-18 2023-01-20 51177 ENSG00000023902 OTTHUMG00000012510 uc001ett.4 AF073836 NM_016274 "CCDS76210|CCDS945" Q53GL0 10799509 MGI:1914470 RGD:1311487 608335 HGNC:24310 "ENST00000369124.5|NM_016274.6" HGNC:30026 PLEKHO2 pleckstrin homology domain containing O2 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "DKFZp761K2312|PP1628|pp9099" PLEKHQ1 "pleckstrin homology domain containing, family Q member 1|pleckstrin homology domain containing, family O member 2" Pleckstrin homology domain containing 682 2006-02-07 2007-12-14 2015-11-18 2023-01-20 80301 ENSG00000241839 OTTHUMG00000133050 uc002anv.4 AF318373 NM_025201 "CCDS73739|CCDS10196" Q8TD55 28627369 MGI:2143132 RGD:1305718 HGNC:30026 "ENST00000323544.5|NM_025201.5" -HGNC:26285 PLEKHS1 pleckstrin homology domain containing S1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ23537|bA211N11.2" C10orf81 "chromosome 10 open reading frame 81|pleckstrin homology domain containing, family S member 1" Pleckstrin homology domain containing 682 2004-02-18 2012-05-31 2015-11-18 2023-01-20 79949 ENSG00000148735 OTTHUMG00000019074 uc001lar.3 AK027190 NM_024889 "CCDS53580|CCDS91351|CCDS53581|CCDS7583" Q5SXH7 12477932 MGI:2443041 RGD:1559884 HGNC:26285 "ENST00000694986.1|NM_001395068.1" +HGNC:26285 PLEKHS1 pleckstrin homology domain containing S1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ23537|bA211N11.2" C10orf81 "chromosome 10 open reading frame 81|pleckstrin homology domain containing, family S member 1" Pleckstrin homology domain containing 682 2004-02-18 2012-05-31 2015-11-18 2023-01-20 79949 ENSG00000148735 OTTHUMG00000019074 uc001lar.3 AK027190 NM_024889 "CCDS7583|CCDS91351|CCDS53580|CCDS53581" Q5SXH7 12477932 MGI:2443041 RGD:1559884 HGNC:26285 "ENST00000694986.1|NM_001395068.1" HGNC:30053 PLET1 placenta expressed transcript 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 placenta-expressed transcript 1 C11orf34 chromosome 11 open reading frame 34 2004-03-31 2013-10-14 2013-10-14 2023-01-20 349633 ENSG00000188771 OTTHUMG00000167189 AY364431 NM_001145024 CCDS44732 Q6UQ28 MGI:1923759 RGD:1359217 611904 HGNC:30053 "ENST00000338832.4|NM_001145024.1" -HGNC:9071 PLG plasminogen protein-coding gene gene with protein product Approved 6q26 06q26 2001-06-22 2023-01-20 5340 ENSG00000122194 OTTHUMG00000015957 uc003qtm.5 M74220 NM_000301 "CCDS55074|CCDS5279" P00747 MGI:97620 RGD:619893 LRG_571|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_571.xml 173350 117886 S01.233 objectId:2394 HGNC:9071 "ENST00000308192.14|NM_000301.5" HGNC:9071 +HGNC:9071 PLG plasminogen protein-coding gene gene with protein product Approved 6q26 06q26 2001-06-22 2023-01-20 5340 ENSG00000122194 OTTHUMG00000015957 uc003qtm.5 M74220 NM_000301 "CCDS5279|CCDS55074" P00747 MGI:97620 RGD:619893 LRG_571|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_571.xml 173350 117886 S01.233 objectId:2394 HGNC:9071 "ENST00000308192.14|NM_000301.5" HGNC:9071 HGNC:9074 PLGLA plasminogen like A (pseudogene) pseudogene pseudogene Approved 2q12.2 02q12.2 "PLGP2|PLGLA1" "plasminogen pseudogene 2|plasminogen-like A1|plasminogen-like A" 1992-06-09 2008-02-07 2019-02-18 2019-02-18 285189 ENSG00000240935 OTTHUMG00000153188 "U67178|M86872|M86873" NR_003506.2 Q15195 1986355 612212 HGNC:9074 HGNC:9072 PLGLB1 plasminogen like B1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 PRP-B PLGL plasminogen-like 1989-05-10 2005-03-31 2019-02-18 2023-01-20 5343 ENSG00000183281 OTTHUMG00000154612 uc061lnw.1 "M86874|M86875|M86876" NM_001032392 CCDS33238 Q02325 "1554698|2714803" 173340 HGNC:9072 "ENST00000355705.4|NM_001032392.4" HGNC:9073 PLGLB2 plasminogen like B2 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 PLGP1 plasminogen pseudogene 1 1992-06-09 2005-03-31 2019-02-18 2023-01-20 5342 ENSG00000125551 OTTHUMG00000153273 uc002ssl.4 "M86871|M93143" NM_002665 CCDS1999 Q02325 1986355 HGNC:9073 "ENST00000359481.9|NM_002665.4" HGNC:23633 PLGRKT plasminogen receptor with a C-terminal lysine protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "MDS030|FLJ14688|AD025|Plg-RKT" "uncharacterized hematopoietic stem/progenitor cells protein MDS030|plasminogen receptor with a C-terminal lysine" C9orf46 "chromosome 9 open reading frame 46|plasminogen receptor, C-terminal lysine transmembrane protein" 2003-11-27 2012-04-12 2016-04-19 2023-01-20 55848 ENSG00000107020 OTTHUMG00000019501 uc003zjc.5 AF225420 NM_018465 CCDS6463 Q9HBL7 21940822 MGI:1915009 RGD:1306839 618444 HGNC:23633 "ENST00000223864.7|NM_018465.4" HGNC:9076 PLIN1 perilipin 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 PLIN perilipin Perilipins 678 1997-07-22 2009-08-12 2009-08-12 2023-01-20 5346 ENSG00000166819 OTTHUMG00000149813 uc010upx.3 AB005293 NM_002666 CCDS10353 O60240 "9521880|19638644" MGI:1890505 RGD:3351 170290 280360 HGNC:9076 "ENST00000300055.10|NM_002666.5" HGNC:9076 HGNC:248 PLIN2 perilipin 2 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 ADRP adipophilin ADFP adipose differentiation-related protein Perilipins 678 1992-02-07 2009-08-12 2009-08-12 2023-01-20 123 ENSG00000147872 OTTHUMG00000019624 uc003zno.4 X97324 NM_001122 CCDS6490 Q99541 "9003395|19638644" MGI:87920 RGD:728889 103195 HGNC:248 "ENST00000276914.7|NM_001122.4" -HGNC:16893 PLIN3 perilipin 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "TIP47|PP17" "cargo selection protein (mannose 6 phosphate receptor binding protein)|placental protein 17|MPR-BINDING PROTEIN, 47-KD" M6PRBP1 mannose-6-phosphate receptor binding protein 1 Perilipins 678 2004-01-16 2009-08-12 2009-08-12 2023-01-20 10226 ENSG00000105355 OTTHUMG00000180249 uc002mbj.3 AF051314 NM_005817 "CCDS12137|CCDS59338|CCDS59337" O60664 "9590177|6856484|19638644" MGI:1914155 RGD:1595854 602702 HGNC:16893 "ENST00000221957.9|NM_005817.5" +HGNC:16893 PLIN3 perilipin 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "TIP47|PP17" "cargo selection protein (mannose 6 phosphate receptor binding protein)|placental protein 17|MPR-BINDING PROTEIN, 47-KD" M6PRBP1 mannose-6-phosphate receptor binding protein 1 Perilipins 678 2004-01-16 2009-08-12 2009-08-12 2023-01-20 10226 ENSG00000105355 OTTHUMG00000180249 uc002mbj.3 AF051314 NM_005817 "CCDS59337|CCDS12137|CCDS59338" O60664 "9590177|6856484|19638644" MGI:1914155 RGD:1595854 602702 HGNC:16893 "ENST00000221957.9|NM_005817.5" HGNC:29393 PLIN4 perilipin 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 S3-12 KIAA1881 KIAA1881 Perilipins 678 2004-02-12 2009-08-12 2009-08-12 2023-03-15 729359 ENSG00000167676 OTTHUMG00000167571 uc002mar.3 AB067468 NM_001367868 "CCDS92489|CCDS92490" Q96Q06 "11572484|19638644" MGI:1929709 RGD:1590867 613247 HGNC:29393 "ENST00000301286.5|NM_001367868.2" HGNC:33196 PLIN5 perilipin 5 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "LSDP5|LSDA5|OXPAT|MLDP" lipid storage droplet protein 5 Perilipins 678 2009-08-12 2023-01-20 440503 ENSG00000214456 OTTHUMG00000182008 uc002mas.5 DQ839131 NM_001013706 CCDS42473 Q00G26 "17234449|19638644" MGI:1914218 RGD:1589602 613248 HGNC:33196 "ENST00000381848.7|NM_001013706.3" HGNC:9077 PLK1 polo like kinase 1 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 PLK "polo-like kinase (Drosophila)|polo-like kinase 1" 1994-07-25 2004-01-28 2016-01-22 2023-01-20 5347 ENSG00000166851 OTTHUMG00000096984 uc002dlz.2 NM_005030 CCDS10616 P53350 8127874 MGI:97621 RGD:3352 602098 objectId:2168 HGNC:9077 "ENST00000300093.9|NM_005030.6" -HGNC:19699 PLK2 polo like kinase 2 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 SNK serum-inducible kinase "polo-like kinase 2 (Drosophila)|polo-like kinase 2" 2004-01-26 2016-01-22 2023-01-20 10769 ENSG00000145632 OTTHUMG00000097047 uc003jrn.4 NM_006622 "CCDS75250|CCDS3974" Q9NYY3 MGI:1099790 RGD:620760 607023 objectId:2169 HGNC:19699 "ENST00000274289.8|NM_006622.4" +HGNC:19699 PLK2 polo like kinase 2 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 SNK serum-inducible kinase "polo-like kinase 2 (Drosophila)|polo-like kinase 2" 2004-01-26 2016-01-22 2023-01-20 10769 ENSG00000145632 OTTHUMG00000097047 uc003jrn.4 NM_006622 "CCDS3974|CCDS75250" Q9NYY3 MGI:1099790 RGD:620760 607023 objectId:2169 HGNC:19699 "ENST00000274289.8|NM_006622.4" HGNC:2154 PLK3 polo like kinase 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FNK|PRK" CNK "cytokine-inducible kinase|polo-like kinase 3 (Drosophila)|polo-like kinase 3" 1997-06-12 2004-01-28 2016-01-22 2023-01-20 1263 ENSG00000173846 OTTHUMG00000008491 uc001cmn.4 AJ293866 NM_004073 CCDS515 Q9H4B4 8702627 MGI:109604 RGD:62039 602913 objectId:2170 HGNC:2154 "ENST00000372201.5|NM_004073.4" -HGNC:11397 PLK4 polo like kinase 4 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 Sak STK18 "serine/threonine kinase 18|polo-like kinase 4 (Drosophila)|polo-like kinase 4" 1998-12-09 2004-01-28 2016-01-22 2023-01-20 10733 ENSG00000142731 OTTHUMG00000133301 uc003ifo.4 Y13115 NM_001190799 "CCDS3735|CCDS54804|CCDS54803" O00444 MGI:101783 RGD:1305390 605031 422336 objectId:2171 HGNC:11397 "ENST00000270861.10|NM_014264.5" HGNC:11397 +HGNC:11397 PLK4 polo like kinase 4 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 Sak STK18 "serine/threonine kinase 18|polo-like kinase 4 (Drosophila)|polo-like kinase 4" 1998-12-09 2004-01-28 2016-01-22 2023-01-20 10733 ENSG00000142731 OTTHUMG00000133301 uc003ifo.4 Y13115 NM_001190799 "CCDS54803|CCDS54804|CCDS3735" O00444 MGI:101783 RGD:1305390 605031 422336 objectId:2171 HGNC:11397 "ENST00000270861.10|NM_014264.5" HGNC:11397 HGNC:27001 PLK5 polo like kinase 5 (inactive) protein-coding gene gene with protein product Approved 19p13.3 19p13.3 SgK384ps PLK5P "polo-like kinase 5 pseudogene|polo-like kinase 5, pseudogene|polo-like kinase 5" 2008-10-20 2011-07-14 2020-03-09 2023-01-20 126520 ENSG00000185988 OTTHUMG00000180073 uc002ltf.4 DQ424898 NM_001243079 CCDS59328 Q496M5 21245385 MGI:3026984 RGD:1305038 HGNC:27001 "ENST00000454744.7|NM_001243079.2" HGNC:18553 PLLP plasmolipin protein-coding gene gene with protein product Approved 16q13 16q13 PMLP plasma membrane proteolipid TM4SF11 "transmembrane 4 superfamily member 11 (plasmolipin)|plasma membrane proteolipid (plasmolipin)" "Tetraspan junctional complex superfamily|MARVEL domain containing" "1471|1626" 2002-06-10 2005-03-21 2010-06-24 2023-01-20 51090 ENSG00000102934 OTTHUMG00000133465 uc002elg.3 AF137386 NM_015993 CCDS10777 Q9Y342 11707781 MGI:1915051 RGD:621478 600340 HGNC:18553 "ENST00000219207.10|NM_015993.3" HGNC:54943 PLLPP1 PLLP pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-04-30 2020-04-30 139061 ENSG00000237782 NG_001542 HGNC:9080 PLN phospholamban protein-coding gene gene with protein product Approved 6q22.31 06q22.31 CMD1P PLB 1991-08-22 2023-01-20 5350 ENSG00000198523 OTTHUMG00000015462 uc003pye.4 NM_002667 CCDS5120 P26678 1828805 MGI:97622 RGD:619894 LRG_390|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_390.xml 172405 160331 HGNC:9080 "ENST00000357525.6|NM_002667.5" HGNC:9080 HGNC:9081 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 LH1 "lysyl hydroxlase 1|procollagen lysyl hydroxylase 1" "LLH|PLOD" procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI) Procollagen-lysine,2-oxoglutarate 5-dioxygenase family 2023 1991-07-11 2004-12-14 2016-04-06 2023-01-20 5351 ENSG00000083444 OTTHUMG00000002393 uc001atm.4 BC016657 NM_000302 CCDS142 Q02809 1577494 MGI:99907 RGD:621382 153454 117888 1.14.11.4 HGNC:9081 "ENST00000196061.5|NM_000302.4" HGNC:9081 -HGNC:9082 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 protein-coding gene gene with protein product Approved 3q24 03q24 "LH2|TLH" "lysyl hydroxlase 2|telopeptidyl lysyl hydroxylase|procollagen lysyl hydroxylase 2" "procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2|procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2" Procollagen-lysine,2-oxoglutarate 5-dioxygenase family 2023 1996-12-18 2016-04-04 2023-01-20 5352 ENSG00000152952 OTTHUMG00000159417 uc003evr.2 U84573 NM_000935 "CCDS3132|CCDS3131" O00469 "9054364|15523624" MGI:1347007 RGD:3353 PLOD2 variant database|https://oi.gene.le.ac.uk/home.php?select_db=PLOD2 601865 117892 1.14.11.4 HGNC:9082 "ENST00000282903.10|NM_182943.3" HGNC:9082 +HGNC:9082 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 protein-coding gene gene with protein product Approved 3q24 03q24 "LH2|TLH" "lysyl hydroxlase 2|telopeptidyl lysyl hydroxylase|procollagen lysyl hydroxylase 2" "procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2|procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2" Procollagen-lysine,2-oxoglutarate 5-dioxygenase family 2023 1996-12-18 2016-04-04 2023-01-20 5352 ENSG00000152952 OTTHUMG00000159417 uc003evr.2 U84573 NM_000935 "CCDS3131|CCDS3132" O00469 "9054364|15523624" MGI:1347007 RGD:3353 PLOD2 variant database|https://oi.gene.le.ac.uk/home.php?select_db=PLOD2 601865 117892 1.14.11.4 HGNC:9082 "ENST00000282903.10|NM_182943.3" HGNC:9082 HGNC:9083 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 LH3 "lysyl hydroxlase 3|Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3" Procollagen-lysine,2-oxoglutarate 5-dioxygenase family 2023 1998-09-25 2016-04-06 2023-01-20 8985 ENSG00000106397 OTTHUMG00000157111 uc003uyd.4 AF046889 NM_001084 CCDS5715 O60568 "9724729|9582318|21220425|30089812" MGI:1347008 RGD:631339 603066 304172 "1.14.11.4|2.4.1.66|2.4.1.50" HGNC:9083 "ENST00000223127.8|NM_001084.5" HGNC:9083 -HGNC:9086 PLP1 proteolipid protein 1 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 GPM6C Pelizaeus-Merzbacher disease "SPG2|PLP" spastic paraplegia 2, uncomplicated 2001-06-22 2008-07-28 2023-01-20 5354 ENSG00000123560 OTTHUMG00000022111 uc033epn.2 M27110 NM_000533 "CCDS14514|CCDS14513" P60201 MGI:97623 RGD:3354 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLP1 300401 117894 HGNC:9086 "ENST00000621218.5|NM_000533.5" HGNC:9086 +HGNC:9086 PLP1 proteolipid protein 1 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 GPM6C Pelizaeus-Merzbacher disease "SPG2|PLP" spastic paraplegia 2, uncomplicated 2001-06-22 2008-07-28 2023-01-20 5354 ENSG00000123560 OTTHUMG00000022111 uc033epn.2 M27110 NM_000533 "CCDS14513|CCDS14514" P60201 MGI:97623 RGD:3354 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLP1 300401 117894 HGNC:9086 "ENST00000621218.5|NM_000533.5" HGNC:9086 HGNC:9087 PLP2 proteolipid protein 2 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "A4|A4-LSB|MGC126187" A4 differentiation-dependent protein proteolipid protein 2 (colonic epithelium-enriched) MARVEL domain containing 1626 1998-05-05 2016-06-03 2023-01-20 5355 ENSG00000102007 OTTHUMG00000021513 uc004dmx.4 L09604 NM_002668 CCDS14319 Q04941 "8470895|7622043" MGI:1298382 RGD:1587363 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLP2 300112 HGNC:9087 "ENST00000376327.6|NM_002668.3" HGNC:9457 PLPBP pyridoxal phosphate binding protein protein-coding gene gene with protein product Approved 8p11.23 08p11.23 PROSC "proline synthetase co-transcribed (bacterial homolog)|proline synthetase cotranscribed homolog (bacterial)" 1998-10-16 2017-02-28 2017-02-28 2023-01-20 11212 ENSG00000147471 OTTHUMG00000164024 uc003xkh.4 AB018566 NM_007198 CCDS6096 O94903 27912044 MGI:1891207 RGD:1308962 604436 HGNC:9457 "ENST00000328195.8|NM_007198.4" HGNC:9457 HGNC:9228 PLPP1 phospholipid phosphatase 1 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "PAP-2a|LPP1" PPAP2A phosphatidic acid phosphatase type 2A "Phospholipid phosphatases|MicroRNA protein coding host genes" "1067|1691" 1998-12-02 2015-10-14 2015-10-14 2023-01-20 8611 ENSG00000067113 OTTHUMG00000162240 AB000888 NM_176895 "CCDS34160|CCDS34159" O14494 9305923 MGI:108412 RGD:621832 607124 objectId:1438 3.1.3.4 HGNC:9228 "ENST00000307259.9|NM_003711.4" HGNC:9230 PLPP2 phospholipid phosphatase 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PAP-2c|LPP2" PPAP2C phosphatidic acid phosphatase type 2C Phospholipid phosphatases 1067 1998-12-02 2015-10-14 2015-10-14 2023-01-20 8612 ENSG00000141934 OTTHUMG00000180530 AF035959 NM_003712 "CCDS45889|CCDS12023|CCDS12024" O43688 "9570154|9607309" MGI:1354945 RGD:628893 607126 objectId:1440 3.1.3.4 HGNC:9230 "ENST00000434325.7|NM_003712.4" HGNC:9229 PLPP3 phospholipid phosphatase 3 protein-coding gene gene with protein product Approved 1p32.2 01p32.2 "PAP-2b|LPP3" PPAP2B phosphatidic acid phosphatase type 2B Phospholipid phosphatases 1067 1998-12-02 2015-10-14 2015-10-14 2023-01-20 8613 ENSG00000162407 OTTHUMG00000008160 AB000889 NM_003713 CCDS604 O14495 9305923 MGI:1915166 RGD:620454 607125 objectId:1439 3.1.3.4 HGNC:9229 "ENST00000371250.4|NM_003713.5" HGNC:23531 PLPP4 phospholipid phosphatase 4 protein-coding gene gene with protein product Approved 10q26.12 10q26.12 DPPL2 diacylglycerol pyrophosphate phosphatase-like 2 "PPAPDC1|PPAPDC1A" "phosphatidic acid phosphatase type 2 domain containing 1|phosphatidic acid phosphatase type 2 domain containing 1A" Phospholipid phosphatases 1067 2004-05-27 2015-10-14 2015-10-14 2023-01-20 196051 ENSG00000203805 OTTHUMG00000019168 AK098668 NM_001030059 CCDS41573 Q5VZY2 17590538 MGI:2685936 RGD:1306289 HGNC:23531 "ENST00000398250.6|NM_001030059.3" -HGNC:25026 PLPP5 phospholipid phosphatase 5 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "HTPAP|DPPL1" diacylglycerol pyrophosphate phosphatase-like 1 PPAPDC1B phosphatidic acid phosphatase type 2 domain containing 1B Phospholipid phosphatases 1067 2005-07-15 2015-10-14 2015-10-14 2023-01-20 84513 ENSG00000147535 OTTHUMG00000165104 AF212238 NM_032483 "CCDS87598|CCDS94281|CCDS47842|CCDS47841|CCDS47843" Q8NEB5 17590538 MGI:1919160 RGD:1591734 610626 HGNC:25026 "ENST00000424479.7|NM_001102559.2" +HGNC:25026 PLPP5 phospholipid phosphatase 5 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "HTPAP|DPPL1" diacylglycerol pyrophosphate phosphatase-like 1 PPAPDC1B phosphatidic acid phosphatase type 2 domain containing 1B Phospholipid phosphatases 1067 2005-07-15 2015-10-14 2015-10-14 2023-01-20 84513 ENSG00000147535 OTTHUMG00000165104 AF212238 NM_032483 "CCDS47841|CCDS94281|CCDS47842|CCDS87598|CCDS47843" Q8NEB5 17590538 MGI:1919160 RGD:1591734 610626 HGNC:25026 "ENST00000424479.7|NM_001102559.2" HGNC:23682 PLPP6 phospholipid phosphatase 6 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "FLJ90191|FLJ46512|PDP1" "polyisoprenoid diphosphate phosphatase type 1|presqualene diphosphate phosphatase" PPAPDC2 phosphatidic acid phosphatase type 2 domain containing 2 Phospholipid phosphatases 1067 2005-07-15 2015-10-14 2015-10-14 2023-01-20 403313 ENSG00000205808 OTTHUMG00000019466 AK128369 NM_203453 CCDS34981 Q8IY26 "16464866|20110354" MGI:1921661 RGD:1566000 611666 HGNC:23682 "ENST00000381883.5|NM_203453.5" HGNC:28174 PLPP7 phospholipid phosphatase 7 (inactive) protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "MGC12921|FLJ14662|NET39" nuclear envelope transmembrane protein NET39 "C9orf67|PPAPDC3" "chromosome 9 open reading frame 67|phosphatidic acid phosphatase type 2 domain containing 3" Phospholipid phosphatases 1067 2004-01-06 2015-10-14 2015-10-14 2023-01-20 84814 ENSG00000160539 OTTHUMG00000020822 AK027568 NM_032728 "CCDS6942|CCDS94515" Q8NBV4 12958361 MGI:2445183 RGD:1305821 618743 HGNC:28174 "ENST00000372264.4|NM_032728.4" HGNC:25993 PLPPR1 phospholipid phosphatase related 1 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "PRG-3|MGC26189|FLJ20300|LPPR1" Phospholipid phosphatase related 1127 2015-10-14 2023-01-20 54886 ENSG00000148123 OTTHUMG00000020373 "AY304515|AY337718" NM_017753 CCDS6751 Q8TBJ4 14750979 MGI:2445015 RGD:1303116 619590 HGNC:25993 "ENST00000374874.8|NM_207299.2" -HGNC:29566 PLPPR2 phospholipid phosphatase related 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "LPPR2|PRG-4" Phospholipid phosphatase related 1127 2015-10-14 2023-01-20 64748 ENSG00000105520 OTTHUMG00000182023 AY339628 NM_022737 "CCDS59352|CCDS12258|CCDS92519" Q96GM1 14750979 MGI:2384575 RGD:1597171 619591 HGNC:29566 "ENST00000688289.1|NM_001393892.1" -HGNC:23497 PLPPR3 phospholipid phosphatase related 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PRG-2|FLJ11535|LPPR3|PRG2" Phospholipid phosphatase related 1127 2015-10-14 2023-01-20 79948 ENSG00000129951 OTTHUMG00000164523 AF541282 NM_024888 "CCDS58636|CCDS12043" Q6T4P5 12730698 MGI:2388640 RGD:727823 610391 HGNC:23497 "ENST00000520876.8|NM_001270366.2" +HGNC:29566 PLPPR2 phospholipid phosphatase related 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "LPPR2|PRG-4" Phospholipid phosphatase related 1127 2015-10-14 2023-01-20 64748 ENSG00000105520 OTTHUMG00000182023 AY339628 NM_022737 "CCDS92519|CCDS12258|CCDS59352" Q96GM1 14750979 MGI:2384575 RGD:1597171 619591 HGNC:29566 "ENST00000688289.1|NM_001393892.1" +HGNC:23497 PLPPR3 phospholipid phosphatase related 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PRG-2|FLJ11535|LPPR3|PRG2" Phospholipid phosphatase related 1127 2015-10-14 2023-01-20 79948 ENSG00000129951 OTTHUMG00000164523 AF541282 NM_024888 "CCDS12043|CCDS58636" Q6T4P5 12730698 MGI:2388640 RGD:727823 610391 HGNC:23497 "ENST00000520876.8|NM_001270366.2" HGNC:23496 PLPPR4 phospholipid phosphatase related 4 protein-coding gene gene with protein product Approved 1p21.3-p21.2 01p21.3-p21.2 "PRG-1|LPPR4|KIAA0455|PHP1" plasticity related gene-1 Phospholipid phosphatase related 1127 2015-10-14 2023-01-20 9890 ENSG00000117600 OTTHUMG00000010763 "AF541281|AB007924" NM_014839 "CCDS757|CCDS53347" Q7Z2D5 12730698 MGI:106530 RGD:727806 607813 HGNC:23496 "ENST00000370185.9|NM_014839.5" HGNC:31703 PLPPR5 phospholipid phosphatase related 5 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "PAP2D|PAP2|LPPR5|PRG5" plasticity-related gene 5 Phospholipid phosphatase related 1127 2015-10-14 2023-01-20 163404 ENSG00000117598 OTTHUMG00000010738 "AY574039|AY634620" NM_001037317 "CCDS30779|CCDS30778" Q32ZL2 16010976 MGI:1923019 RGD:1309567 617287 HGNC:31703 "ENST00000263177.5|NM_001037317.2" HGNC:55720 PLPPR5-AS1 PLPPR5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Antisense RNAs 1987 2021-07-13 2021-07-21 100129620 ENSG00000232825 NR_033940 34015762 -HGNC:9089 PLRG1 pleiotropic regulator 1 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "PRL1|Prp46|PRPF46|Cwc1|TANGO4" transport and golgi organization 4 homolog (Drosophila) "pleiotropic regulator 1 (PRL1, Arabidopsis homolog)|pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)" "WD repeat domain containing|NineTeen complex|NTC associated proteins|Spliceosomal C complex" "362|1361|1498|1510" 1998-03-02 2011-05-19 2023-01-20 5356 ENSG00000171566 OTTHUMG00000161411 uc003iny.4 AF044333 NM_002669 "CCDS56341|CCDS34083" O43660 19307306 MGI:1858197 RGD:621047 605961 HGNC:9089 "ENST00000499023.7|NM_002669.4" +HGNC:9089 PLRG1 pleiotropic regulator 1 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "PRL1|Prp46|PRPF46|Cwc1|TANGO4" transport and golgi organization 4 homolog (Drosophila) "pleiotropic regulator 1 (PRL1, Arabidopsis homolog)|pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)" "WD repeat domain containing|NineTeen complex|NTC associated proteins|Spliceosomal C complex" "362|1361|1498|1510" 1998-03-02 2011-05-19 2023-01-20 5356 ENSG00000171566 OTTHUMG00000161411 uc003iny.4 AF044333 NM_002669 "CCDS34083|CCDS56341" O43660 19307306 MGI:1858197 RGD:621047 605961 HGNC:9089 "ENST00000499023.7|NM_002669.4" HGNC:9090 PLS1 plastin 1 protein-coding gene gene with protein product Approved 3q23 03q23 "fimbrin|I-plastin|Plastin-1" plastin 1 (I isoform) EF-hand domain containing 863 1997-08-18 2010-02-10 2023-01-20 5357 ENSG00000120756 OTTHUMG00000159292 uc010huv.4 L20826 NM_002670 CCDS3125 Q14651 8139549 MGI:104809 RGD:1307142 602734 HGNC:9090 "ENST00000457734.7|NM_001145319.2" HGNC:9090 HGNC:40451 PLS1-AS1 PLS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 PLS1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873943 ENSG00000239641 OTTHUMG00000159291 uc062oph.1 PLS1-AS1 HGNC:55926 PLS1P1 PLS1 pseudogene 1 pseudogene pseudogene Approved 11q22.1 11q22.1 2021-10-15 2021-10-15 100129471 ENSG00000254534 NG_016474 PGOHUM00000290663 -HGNC:9091 PLS3 plastin 3 protein-coding gene gene with protein product Approved Xq23 Xq23 T-plastin plastin 3 (T isoform) EF-hand domain containing 863 1997-08-18 2010-02-10 2023-03-15 5358 ENSG00000102024 OTTHUMG00000022237 uc004eqd.4 L05491 NM_001136025 "CCDS78499|CCDS14568" P13797 8428952 MGI:104807 RGD:621409 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLS3 300131 392290 HGNC:9091 "ENST00000355899.8|NM_005032.7" HGNC:9091 +HGNC:9091 PLS3 plastin 3 protein-coding gene gene with protein product Approved Xq23 Xq23 T-plastin plastin 3 (T isoform) EF-hand domain containing 863 1997-08-18 2010-02-10 2023-03-15 5358 ENSG00000102024 OTTHUMG00000022237 uc004eqd.4 L05491 NM_001136025 "CCDS14568|CCDS78499" P13797 8428952 MGI:104807 RGD:621409 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLS3 300131 392290 HGNC:9091 "ENST00000355899.8|NM_005032.7" HGNC:9091 HGNC:50343 PLS3-AS1 PLS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq23 Xq23 Antisense RNAs 1987 2014-04-15 2014-04-15 101927352 ENSG00000271826 OTTHUMG00000185326 NR_110383 PLS3-AS1 HGNC:50343 -HGNC:9092 PLSCR1 phospholipid scramblase 1 protein-coding gene gene with protein product Approved 3q24 03q24 MMTRA1B Phospholipid scramblases 954 1998-06-08 2023-01-20 5359 ENSG00000188313 OTTHUMG00000159427 uc003evx.5 AF098642 NM_021105 "CCDS87153|CCDS3135|CCDS87152" O15162 9218461 MGI:893575 RGD:620521 604170 HGNC:9092 "ENST00000342435.9|NM_021105.3" -HGNC:16494 PLSCR2 phospholipid scramblase 2 protein-coding gene gene with protein product Approved 3q24 03q24 Phospholipid scramblases 954 2001-09-04 2023-01-20 57047 ENSG00000163746 OTTHUMG00000159429 uc003evv.3 NM_020359 "CCDS75029|CCDS3134|CCDS56284" Q9NRY7 10930526 MGI:1270860 607610 HGNC:16494 "ENST00000696113.1|NM_001395437.1" +HGNC:9092 PLSCR1 phospholipid scramblase 1 protein-coding gene gene with protein product Approved 3q24 03q24 MMTRA1B Phospholipid scramblases 954 1998-06-08 2023-01-20 5359 ENSG00000188313 OTTHUMG00000159427 uc003evx.5 AF098642 NM_021105 "CCDS3135|CCDS87153|CCDS87152" O15162 9218461 MGI:893575 RGD:620521 604170 HGNC:9092 "ENST00000342435.9|NM_021105.3" +HGNC:16494 PLSCR2 phospholipid scramblase 2 protein-coding gene gene with protein product Approved 3q24 03q24 Phospholipid scramblases 954 2001-09-04 2023-01-20 57047 ENSG00000163746 OTTHUMG00000159429 uc003evv.3 NM_020359 "CCDS56284|CCDS3134|CCDS75029" Q9NRY7 10930526 MGI:1270860 607610 HGNC:16494 "ENST00000696113.1|NM_001395437.1" HGNC:16495 PLSCR3 phospholipid scramblase 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 Phospholipid scramblases 954 2001-09-04 2023-01-20 57048 ENSG00000187838 OTTHUMG00000178169 AF159442 NM_020360 CCDS42253 Q9NRY6 10930526 MGI:1917560 RGD:1307016 607611 HGNC:16495 "ENST00000619711.5|NM_020360.4" -HGNC:16497 PLSCR4 phospholipid scramblase 4 protein-coding gene gene with protein product Approved 3q24 03q24 Phospholipid scramblases 954 2001-09-04 2023-03-15 57088 ENSG00000114698 OTTHUMG00000159415 uc003evt.6 AF199023 NM_020353 "CCDS3133|CCDS54651" Q9NRQ2 10930526 MGI:2143267 RGD:1311693 607612 HGNC:16497 "ENST00000354952.7|NM_020353.3" +HGNC:16497 PLSCR4 phospholipid scramblase 4 protein-coding gene gene with protein product Approved 3q24 03q24 Phospholipid scramblases 954 2001-09-04 2023-03-15 57088 ENSG00000114698 OTTHUMG00000159415 uc003evt.6 AF199023 NM_020353 "CCDS54651|CCDS3133" Q9NRQ2 10930526 MGI:2143267 RGD:1311693 607612 HGNC:16497 "ENST00000354952.7|NM_020353.3" HGNC:56556 PLSCR4P1 PLSCR4 pseudogene 1 pseudogene pseudogene Approved 3q24 03q24 2022-11-02 2022-11-02 100419967 ENSG00000243596 NG_025638 PGOHUM00000299212 HGNC:19952 PLSCR5 phospholipid scramblase family member 5 protein-coding gene gene with protein product Approved 3q24 03q24 phospholipid scramblase family, member 5 Phospholipid scramblases 954 2004-06-28 2015-11-18 2023-01-20 389158 ENSG00000231213 OTTHUMG00000159437 uc062otn.1 AY436642 NM_001085420 "CCDS82853|CCDS46931" A0PG75 MGI:3779462 RGD:1564500 HGNC:19952 "ENST00000443512.2|NM_001085420.2" -HGNC:40907 PLSCR5-AS1 PLSCR5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q24 03q24 PLSCR5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874104 ENSG00000241457 OTTHUMG00000159436 uc062oto.1 PLSCR5-AS1 -HGNC:9093 PLTP phospholipid transfer protein protein-coding gene gene with protein product Approved 20q13.12 20q13.12 BPIFE BPI fold containing family E BPI fold containing 456 1994-09-16 2023-01-20 5360 ENSG00000100979 OTTHUMG00000033047 uc002xqn.3 L26232 NM_006227 "CCDS13386|CCDS56196|CCDS56197|CCDS13387" P55058 MGI:103151 RGD:1306695 172425 HGNC:9093 "ENST00000372431.8|NM_006227.4" +HGNC:40907 PLSCR5-AS1 PLSCR5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q24 03q24 PLSCR5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874104 ENSG00000241457 OTTHUMG00000159436 uc062oto.1 NR_046698 PLSCR5-AS1 +HGNC:9093 PLTP phospholipid transfer protein protein-coding gene gene with protein product Approved 20q13.12 20q13.12 BPIFE BPI fold containing family E BPI fold containing 456 1994-09-16 2023-01-20 5360 ENSG00000100979 OTTHUMG00000033047 uc002xqn.3 L26232 NM_006227 "CCDS56197|CCDS13387|CCDS13386|CCDS56196" P55058 MGI:103151 RGD:1306695 172425 HGNC:9093 "ENST00000372431.8|NM_006227.4" HGNC:43698 PLUT PDX1 associated lncRNA, upregulator of transcription non-coding RNA RNA, long non-coding Approved 13q12.2 13q12.2 "PLUTO|HI-LNC71" Human Islet Long Non Coding RNA 71 PDX1-AS1 "PDX1 antisense RNA 1 (non-protein coding)|PDX1 antisense RNA 1" Long non-coding RNAs with non-systematic symbols 1992 2012-01-31 2017-01-20 2017-01-20 2017-06-01 100861550 ENSG00000247381 OTTHUMG00000170578 uc058wbw.1 "BX383058|CR593175" NR_047484 28041957 MGI:1917397 HGNC:43698 HGNC:13635 PLVAP plasmalemma vesicle associated protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "gp68|PV-1|PV1|FELS" fenestrated-endothelial linked structure protein; PV-1 protein 2001-04-27 2023-01-20 83483 ENSG00000130300 OTTHUMG00000182784 uc002ngk.2 AF326591 NM_031310 CCDS32952 Q9BX97 11401446 MGI:1890497 RGD:619971 607647 HGNC:13635 "ENST00000252590.9|NM_031310.3" HGNC:13635 HGNC:20945 PLXDC1 plexin domain containing 1 protein-coding gene gene with protein product Approved 17q12 17q12 "TEM3|TEM7" tumor endothelial marker 7 precursor 2003-08-27 2023-01-20 57125 ENSG00000161381 OTTHUMG00000133183 uc002hrg.2 AF279144 NM_020405 CCDS11333 Q8IUK5 "10947988|11559528" MGI:1919574 RGD:1307496 606826 HGNC:20945 "ENST00000315392.9|NM_020405.5" -HGNC:21013 PLXDC2 plexin domain containing 2 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 "TEM7R|FLJ14623|PLXDC2-OT" tumor endothelial marker 7-related precursor 2003-08-27 2023-02-02 84898 ENSG00000120594 OTTHUMG00000017781 uc001iqg.3 AF378757 NM_032812 "CCDS7132|CCDS60497" Q6UX71 11559528 MGI:1914698 RGD:1305962 606827 HGNC:21013 "ENST00000377252.5|NM_032812.9" +HGNC:21013 PLXDC2 plexin domain containing 2 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 "TEM7R|FLJ14623|PLXDC2-OT" tumor endothelial marker 7-related precursor 2003-08-27 2023-02-02 84898 ENSG00000120594 OTTHUMG00000017781 uc001iqg.3 AF378757 NM_032812 "CCDS60497|CCDS7132" Q6UX71 11559528 MGI:1914698 RGD:1305962 606827 HGNC:21013 "ENST00000377252.5|NM_032812.9" HGNC:9099 PLXNA1 plexin A1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 NOV PLXN1 "Plexins|IPT domain containing" "683|1752" 1998-08-13 2023-01-20 5361 ENSG00000114554 OTTHUMG00000044222 uc003ejg.3 X87832 NM_032242 CCDS33847 Q9UIW2 8570614 MGI:107685 RGD:1560871 601055 HGNC:9099 "ENST00000393409.3|NM_032242.4" HGNC:9100 PLXNA2 plexin A2 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "OCT|FLJ11751|FLJ30634|KIAA0463" "plexin 2|plexin-A2|semaphorin receptor OCT|transmembrane protein OCT" PLXN2 "Plexins|IPT domain containing" "683|1752" 1998-08-13 2023-01-20 5362 ENSG00000076356 OTTHUMG00000036564 uc001hgz.4 X87831 NM_025179 CCDS31013 O75051 8570614 MGI:107684 RGD:1305325 601054 470890 HGNC:9100 "ENST00000367033.4|NM_025179.4" HGNC:9101 PLXNA3 plexin A3 protein-coding gene gene with protein product Approved Xq28 Xq28 "SEX|XAP-6|6.3|Plxn3" PLXN4 "Plexins|IPT domain containing" "683|1752" 1998-01-20 2023-01-20 55558 ENSG00000130827 OTTHUMG00000033290 uc004flm.5 X74609 NM_017514 CCDS14752 P51805 "8248200|8733135" MGI:107683 RGD:1584973 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLXNA3 300022 HGNC:9101 "ENST00000369682.4|NM_017514.5" -HGNC:9102 PLXNA4 plexin A4 protein-coding gene gene with protein product Approved 7q32.3 07q32.3 "KIAA1550|DKFZp434G0625PRO34003|FAYV2820" "PLXNA4A|PLXNA4B" "plexin A4, A|plexin A4, B" "Plexins|IPT domain containing" "683|1752" 1999-11-19 2007-09-26 2007-09-26 2023-01-20 91584 ENSG00000221866 OTTHUMG00000155108 uc064ict.1 "AB046770|AK123428" NM_181775 "CCDS43646|CCDS43647|CCDS5826" Q9HCM2 MGI:2179061 RGD:1308074 604280 HGNC:9102 "ENST00000321063.9|NM_020911.2" +HGNC:9102 PLXNA4 plexin A4 protein-coding gene gene with protein product Approved 7q32.3 07q32.3 "KIAA1550|DKFZp434G0625PRO34003|FAYV2820" "PLXNA4A|PLXNA4B" "plexin A4, A|plexin A4, B" "Plexins|IPT domain containing" "683|1752" 1999-11-19 2007-09-26 2007-09-26 2023-01-20 91584 ENSG00000221866 OTTHUMG00000155108 uc064ict.1 "AB046770|AK123428" NM_181775 "CCDS5826|CCDS43647|CCDS43646" Q9HCM2 MGI:2179061 RGD:1308074 604280 HGNC:9102 "ENST00000321063.9|NM_020911.2" HGNC:9103 PLXNB1 plexin B1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SEP|KIAA0407" PLXN5 "Plexins|IPT domain containing" "683|1752" 1998-08-13 2023-01-20 5364 ENSG00000164050 OTTHUMG00000133527 uc003csx.2 X87904 NM_002673 CCDS2765 O43157 "8570614|11035813" MGI:2154238 RGD:1310564 601053 HGNC:9103 "ENST00000296440.11|NM_001130082.3" HGNC:9104 PLXNB2 plexin B2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "MM1|KIAA0315|PLEXB2|lncFAL" ferroptosis-associated lncRNA "Plexins|IPT domain containing" "683|1752" 1999-11-19 2023-01-20 23654 ENSG00000196576 OTTHUMG00000150219 uc062flc.1 NM_012401 CCDS43035 O15031 "10520995|12183458" MGI:2154239 RGD:1305495 604293 HGNC:9104 "ENST00000359337.9|NM_012401.4" HGNC:9105 PLXNB3 plexin B3 protein-coding gene gene with protein product Approved Xq28 Xq28 "PLEXR|PLEXB3" PLXN6 "Plexins|IPT domain containing" "683|1752" 1998-08-13 2023-01-20 5365 ENSG00000198753 OTTHUMG00000024217 uc004fii.3 AF149019 NM_001163257 "CCDS14729|CCDS55536" Q9ULL4 10520995 MGI:2154240 RGD:1560615 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLXNB3 300214 HGNC:9105 "ENST00000361971.10|NM_005393.3" @@ -25991,13 +25994,13 @@ HGNC:9108 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 protein-codin HGNC:9109 PMCH pro-melanin concentrating hormone protein-coding gene gene with protein product Approved 12q23.2 12q23.2 MCH pro-melanin-concentrating hormone Neuropeptides 1902 1991-11-08 2015-11-23 2023-01-20 5367 ENSG00000183395 OTTHUMG00000170479 uc001tjl.4 M57703 NM_002674 CCDS31885 P20382 2149166 MGI:97629 RGD:3358 176795 ligandId:1298 HGNC:9109 "ENST00000329406.5|NM_002674.4" HGNC:9110 PMCHL1 pro-melanin concentrating hormone like 1 (pseudogene) pseudogene pseudogene Approved 5p14.3 05p14.3 "pro-melanin-concentrating hormone-like 1|pro-melanin-concentrating hormone-like 1, pseudogene" 1993-01-13 2015-11-23 2023-03-15 5369 ENSG00000168967 OTTHUMG00000090661 AY008411 NR_003921 Q16048 8188237 MGI:97629 176793 PGOHUM00000235529 HGNC:9110 HGNC:9111 PMCHL2 pro-melanin concentrating hormone like 2 (pseudogene) pseudogene pseudogene Approved 5q13.2 05q13.2 "pro-melanin-concentrating hormone-like 2|pro-melanin-concentrating hormone-like 2, pseudogene" 1993-01-13 2015-11-23 2023-03-15 5370 ENSG00000169040 OTTHUMG00000099413 AY008413 NR_003922 Q9BQD1 8188237 MGI:97629 176794 PGOHUM00000235645 HGNC:9111 -HGNC:10880 PMEL premelanosome protein protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "D12S53E|SI|Pmel17|gp100|HMB-45|ME20|HMB45" "SIL|SILV" "silver (mouse homolog) like|silver homolog (mouse)" 1997-06-24 2010-12-17 2010-12-17 2023-01-20 6490 ENSG00000185664 OTTHUMG00000170573 uc001sip.4 AK092881 NM_006928 "CCDS8897|CCDS55833|CCDS55834" P40967 8739560 MGI:98301 RGD:1307513 155550 HGNC:10880 "ENST00000548747.6|NM_001384361.1" -HGNC:14107 PMEPA1 prostate transmembrane protein, androgen induced 1 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 STAG1 solid tumor-associated gene 1 TMEPAI transmembrane, prostate androgen induced RNA 2000-12-04 2008-04-03 2008-04-03 2023-04-17 56937 ENSG00000124225 OTTHUMG00000032831 uc002xyt.5 AF224278 NM_020182 "CCDS13464|CCDS13463|CCDS13462" Q969W9 10873380 MGI:1929600 RGD:1308255 606564 471158 HGNC:14107 "ENST00000341744.8|NM_020182.5" -HGNC:9112 PMF1 polyamine modulated factor 1 protein-coding gene gene with protein product Approved 1q22 01q22 MIS12 kinetochore complex 1322 2000-01-31 2016-08-10 2023-01-20 11243 ENSG00000160783 OTTHUMG00000177123 uc001fnq.4 AF141310 NM_007221 "CCDS55649|CCDS30886|CCDS55648" Q6P1K2 10419538 MGI:1914287 RGD:1584694 609176 HGNC:9112 "ENST00000368277.3|NM_007221.4" +HGNC:10880 PMEL premelanosome protein protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "D12S53E|SI|Pmel17|gp100|HMB-45|ME20|HMB45" "SIL|SILV" "silver (mouse homolog) like|silver homolog (mouse)" 1997-06-24 2010-12-17 2010-12-17 2023-01-20 6490 ENSG00000185664 OTTHUMG00000170573 uc001sip.4 AK092881 NM_006928 "CCDS8897|CCDS55834|CCDS55833" P40967 8739560 MGI:98301 RGD:1307513 155550 HGNC:10880 "ENST00000548747.6|NM_001384361.1" +HGNC:14107 PMEPA1 prostate transmembrane protein, androgen induced 1 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 STAG1 solid tumor-associated gene 1 TMEPAI transmembrane, prostate androgen induced RNA 2000-12-04 2008-04-03 2008-04-03 2023-04-17 56937 ENSG00000124225 OTTHUMG00000032831 uc002xyt.5 AF224278 NM_020182 "CCDS13463|CCDS13462|CCDS13464" Q969W9 10873380 MGI:1929600 RGD:1308255 606564 471158 HGNC:14107 "ENST00000341744.8|NM_020182.5" +HGNC:9112 PMF1 polyamine modulated factor 1 protein-coding gene gene with protein product Approved 1q22 01q22 MIS12 kinetochore complex 1322 2000-01-31 2016-08-10 2023-01-20 11243 ENSG00000160783 OTTHUMG00000177123 uc001fnq.4 AF141310 NM_007221 "CCDS30886|CCDS55648|CCDS55649" Q6P1K2 10419538 MGI:1914287 RGD:1584694 609176 HGNC:9112 "ENST00000368277.3|NM_007221.4" HGNC:42953 PMF1-BGLAP PMF1-BGLAP readthrough other readthrough Approved 1q22 01q22 2011-09-28 2023-03-15 100527963 ENSG00000260238 OTTHUMG00000014817 uc021pbb.2 NM_001199661 MGI:1914287 HGNC:42953 HGNC:17728 PMFBP1 polyamine modulated factor 1 binding protein 1 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 2002-05-21 2023-03-15 83449 ENSG00000118557 OTTHUMG00000167827 uc002fcd.4 AF239683 NM_031293 CCDS32483 Q8TBY8 11468771 MGI:1930136 RGD:621677 618085 HGNC:17728 "ENST00000237353.15|NM_031293.3" HGNC:17728 -HGNC:53649 PMIS2 PMIS2 transmembrane protein protein-coding gene gene with protein product Approved 19q13.12 19q13.12 IFITMD9 PMIS2, transmembrane protein interferon induced transmembrane protein domain containing 1600 2017-09-15 2019-01-25 2019-01-25 111216276 ENSG00000283758 OTTHUMG00000191909 NM_001395411 A0A1W2PS18 MGI:1922177 "ENST00000640449.2|NM_001395412.1" -HGNC:9113 PML PML nuclear body scaffold protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "MYL|TRIM19|RNF71" promyelocytic leukemia "Ring finger proteins|Tripartite motif family" "58|59" 1991-06-05 2020-04-06 2023-01-20 5371 ENSG00000140464 OTTHUMG00000137607 uc002awv.4 AB208950 NM_002675 "CCDS10258|CCDS10257|CCDS10256|CCDS10255|CCDS58386|CCDS45298|CCDS45297|CCDS45300|CCDS45299" P29590 MGI:104662 RGD:1562602 LRG_1069|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1069.xml PML 102578 117898 HGNC:9113 "ENST00000268058.8|NM_033238.3" +HGNC:53649 PMIS2 PMIS2 transmembrane protein protein-coding gene gene with protein product Approved 19q13.12 19q13.12 IFITMD9 PMIS2, transmembrane protein Dispanins 1600 2017-09-15 2019-01-25 2019-01-25 111216276 ENSG00000283758 OTTHUMG00000191909 NM_001395411 A0A1W2PS18 MGI:1922177 "ENST00000640449.2|NM_001395412.1" +HGNC:9113 PML PML nuclear body scaffold protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "MYL|TRIM19|RNF71" promyelocytic leukemia "Ring finger proteins|Tripartite motif family" "58|59" 1991-06-05 2020-04-06 2023-01-20 5371 ENSG00000140464 OTTHUMG00000137607 uc002awv.4 AB208950 NM_002675 "CCDS10257|CCDS45297|CCDS45299|CCDS45300|CCDS10255|CCDS10258|CCDS58386|CCDS10256|CCDS45298" P29590 MGI:104662 RGD:1562602 LRG_1069|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1069.xml PML 102578 117898 HGNC:9113 "ENST00000268058.8|NM_033238.3" HGNC:9114 PMM1 phosphomannomutase 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 Sec53 brain glucose-1,6-bisphosphatase HAD Asp-based non-protein phosphatases 1045 1996-10-02 2023-01-20 5372 ENSG00000100417 OTTHUMG00000150972 uc003bal.3 NM_002676 CCDS14020 Q92871 "9070917|9271215" MGI:1353418 RGD:1310897 601786 5.4.2.8 HGNC:9114 "ENST00000216259.8|NM_002676.3" HGNC:9115 PMM2 phosphomannomutase 2 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "CDGS|CDG1a|PMI|PMI1" "phosphomannose isomerase 1|mannose-6-phosphate isomerase|Congenital disorder of glycosylation, type Ia" CDG1 HAD Asp-based non-protein phosphatases 1045 1997-05-22 2023-01-20 5373 ENSG00000140650 OTTHUMG00000129697 uc002czf.5 BC008310 NM_000303 CCDS10536 O15305 9140401 MGI:1859214 RGD:1309366 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 601785 117903 5.3.1.8 HGNC:9115 "ENST00000268261.9|NM_000303.3" HGNC:9115 HGNC:9116 PMM2P1 phosphomannomutase 2 pseudogene 1 pseudogene pseudogene Approved 18p11.22 18p11.22 1998-07-17 2020-04-20 390831 ENSG00000265038 OTTHUMG00000178557 NG_022485 9425221 PGOHUM00000294718 HGNC:9116 @@ -26007,8 +26010,8 @@ HGNC:9118 PMP22 peripheral myelin protein 22 protein-coding gene gene with prote HGNC:18667 PMPCA peptidase, mitochondrial processing subunit alpha protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "KIAA0123|Alpha-MPP|MAS2" "INPP5E|SCAR2|CLA1" "inositol polyphosphate-5-phosphatase, 72 kD|peptidase (mitochondrial processing) alpha|spinocerebellar ataxia, autosomal recessive 2|cerebellar ataxia 1 (autosomal recessive)" M16 metallopeptidases 1440 2002-05-23 2003-06-20 2019-11-26 2023-03-15 23203 ENSG00000165688 OTTHUMG00000020926 uc004chl.5 D21064 NM_015160 CCDS35180 Q10713 "8590280|25808372|29576218" MGI:1918568 RGD:727897 613036 434440 HGNC:18667 "ENST00000371717.8|NM_015160.3" HGNC:18667 HGNC:51348 PMPCAP1 PMPCA pseudogene 1 pseudogene pseudogene Approved 4q22.1 04q22.1 "peptidase (mitochondrial processing) alpha pseudogene 1|peptidase, mitochondrial processing alpha subunit pseudogene 1" 2014-10-13 2019-11-26 2019-11-26 133083 ENSG00000248817 OTTHUMG00000160921 NG_022020 HGNC:51348 HGNC:9119 PMPCB peptidase, mitochondrial processing subunit beta protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MPPB|MPPP52|MAS1|beta-MPP" peptidase (mitochondrial processing) beta M16 metallopeptidases 1440 1999-07-22 2019-11-26 2023-01-20 9512 ENSG00000105819 OTTHUMG00000157205 uc003vbl.4 AF054182 NM_004279 CCDS5730 O75439 9653160 MGI:1920328 RGD:621297 603131 HGNC:9119 "ENST00000249269.9|NM_004279.3" HGNC:9119 -HGNC:9121 PMS1 PMS1 homolog 1, mismatch repair system component protein-coding gene gene with protein product Approved 2q32.2 02q32.2 MLH2 PMSL1 "postmeiotic segregation increased (S. cerevisiae) 1|PMS1 postmeiotic segregation increased 1 (S. cerevisiae)" MutL homologs 1027 1994-12-13 2015-07-10 2023-01-20 5378 ENSG00000064933 OTTHUMG00000132664 uc010fry.2 NM_000534 "CCDS46473|CCDS74615|CCDS46474|CCDS2302|CCDS82543|CCDS82544" P54277 "8072530|23608172" MGI:1202302 RGD:1359511 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PMS1|PMS1 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=PMS1|LRG_221|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_221.xml" 600258 117913 HGNC:9121 "ENST00000441310.7|NM_000534.5" HGNC:9121 -HGNC:9122 PMS2 PMS1 homolog 2, mismatch repair system component protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "H_DJ0042M02.9|HNPCC4|MLH4|PMS-2" PMSL2 "postmeiotic segregation increased (S. cerevisiae) 2|PMS2 postmeiotic segregation increased 2 (S. cerevisiae)|PMS1 homolog 2, mismatch repair protein" MutL homologs 1027 1994-12-13 2015-07-10 2023-01-20 5395 ENSG00000122512 OTTHUMG00000023135 uc003spl.4 NM_000535 "CCDS5343|CCDS94049|CCDS94050|CCDS94048|CCDS94051|CCDS83155|CCDS94052|CCDS87474" P54278 8072530 MGI:104288 RGD:1305483 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PMS2|PMS2 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=PMS2|LRG_161|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_161.xml" PMS2 600259 117916 HGNC:9122 "ENST00000265849.12|NM_000535.7" HGNC:9122 +HGNC:9121 PMS1 PMS1 homolog 1, mismatch repair system component protein-coding gene gene with protein product Approved 2q32.2 02q32.2 MLH2 PMSL1 "postmeiotic segregation increased (S. cerevisiae) 1|PMS1 postmeiotic segregation increased 1 (S. cerevisiae)" MutL homologs 1027 1994-12-13 2015-07-10 2023-01-20 5378 ENSG00000064933 OTTHUMG00000132664 uc010fry.2 NM_000534 "CCDS74615|CCDS46474|CCDS82544|CCDS82543|CCDS46473|CCDS2302" P54277 "8072530|23608172" MGI:1202302 RGD:1359511 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PMS1|PMS1 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=PMS1|LRG_221|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_221.xml" 600258 117913 HGNC:9121 "ENST00000441310.7|NM_000534.5" HGNC:9121 +HGNC:9122 PMS2 PMS1 homolog 2, mismatch repair system component protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "H_DJ0042M02.9|HNPCC4|MLH4|PMS-2" PMSL2 "postmeiotic segregation increased (S. cerevisiae) 2|PMS2 postmeiotic segregation increased 2 (S. cerevisiae)|PMS1 homolog 2, mismatch repair protein" MutL homologs 1027 1994-12-13 2015-07-10 2023-01-20 5395 ENSG00000122512 OTTHUMG00000023135 uc003spl.4 NM_000535 "CCDS94048|CCDS5343|CCDS83155|CCDS87474|CCDS94049|CCDS94052|CCDS94051|CCDS94050" P54278 8072530 MGI:104288 RGD:1305483 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PMS2|PMS2 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=PMS2|LRG_161|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_161.xml" PMS2 600259 117916 HGNC:9122 "ENST00000265849.12|NM_000535.7" HGNC:9122 HGNC:30061 PMS2CL PMS2 C-terminal like pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 PMS2P13 PMS1 homolog 2, mismatch repair system component pseudogene 13 2007-11-27 2015-07-10 441194 ENSG00000187953 OTTHUMG00000151857 BC041364 NR_002217 Q68D20 "15256438|17253626" HGNC:30061 HGNC:9123 PMS2P1 PMS1 homolog 2, mismatch repair system component pseudogene 1 pseudogene pseudogene Approved 7q22.1 07q22.1 "PMS3|PMS8|PMS2L13|PMSR2|PMSR1" "PMS2L6|PMS2L8|PMS2L7|PMS2L1" "postmeiotic segregation increased 2-like 6|postmeiotic segregation increased 2-like 1|postmeiotic segregation increased 2-like 8|postmeiotic segregation increased 2-like 7|postmeiotic segregation increased 2-like 1 pseudogene|postmeiotic segregation increased 2 pseudogene 1" 1997-08-15 2010-10-26 2015-07-10 2015-07-10 5379 ENSG00000078319 OTTHUMG00000156885 D38435 NR_003613 A4D2B8 "8586419|15077197" MGI:104288 605038 HGNC:9123 HGNC:9127 PMS2P2 PMS1 homolog 2, mismatch repair system component pseudogene 2 pseudogene pseudogene Approved 7q11.23 07q11.23 PMS4 PMS2L2 "postmeiotic segregation increased 2-like 2|postmeiotic segregation increased 2-like 2 pseudogene|postmeiotic segregation increased 2 pseudogene 2" 1997-08-15 2010-10-26 2015-07-10 2016-08-17 5380 ENSG00000278416 OTTHUMG00000182951 DA215155 NR_003614 O95744 8586419 MGI:104288 PGOHUM00000302308 HGNC:9127 @@ -26025,13 +26028,13 @@ HGNC:13641 PMS2P12 PMS1 homolog 2, mismatch repair system component pseudogene 1 HGNC:55748 PMS2P13 PMS1 homolog 2, mismatch repair system component pseudogene 13 pseudogene pseudogene Approved 7q11.23 07q11.23 2021-07-20 2021-07-20 441259 ENSG00000276840 NG_006443 PGOHUM00000302306 HGNC:55747 PMS2P14 PMS1 homolog 2, mismatch repair system component pseudogene 14 pseudogene pseudogene Approved 7q11.23 07q11.23 2021-07-20 2021-07-20 122149300 ENSG00000277125 NG_084030 PGOHUM00000302800 HGNC:9141 PMVK phosphomevalonate kinase protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PMK|PMKA|HUMPMKI" 1999-07-09 2023-01-20 10654 ENSG00000163344 OTTHUMG00000037415 uc001ffq.4 L77213 NM_006556 CCDS1073 Q15126 "8663599|10191291" MGI:1915853 RGD:1310812 607622 444563 objectId:641 2.7.4.2 HGNC:9141 "ENST00000368467.4|NM_006556.4" HGNC:9141 -HGNC:13415 PNCK pregnancy up-regulated nonubiquitous CaM kinase protein-coding gene gene with protein product Approved Xq28 Xq28 "MGC45419|CaMK1b" "pregnancy upregulated non-ubiquitously expressed CaM kinase|pregnancy up-regulated non-ubiquitously expressed CaM kinase" Calmodulin dependent protein kinases 1630 2004-06-25 2013-10-14 2023-03-15 139728 ENSG00000130822 OTTHUMG00000024216 uc065buh.1 BC033746 NM_198452 "CCDS35503|CCDS48189|CCDS94698" Q6P2M8 "11034105|23634203" MGI:1347357 RGD:69249 300680 objectId:2172 2.7.11.17 HGNC:13415 "ENST00000340888.8|NM_001366977.1" -HGNC:21222 PNISR PNN interacting serine and arginine rich protein protein-coding gene gene with protein product Approved 6q16.2 06q16.2 "FLJ14752|bA98I9.2|DKFZp564B0769|SRrp130" "C6orf111|SFRS18" "chromosome 6 open reading frame 111|splicing factor, arginine/serine-rich 18" 2003-11-25 2011-06-06 2016-06-06 2023-01-20 25957 ENSG00000132424 OTTHUMG00000015262 uc003ppo.5 AK027759 NM_032870 "CCDS93978|CCDS5043|CCDS93977" Q8TF01 14578391 MGI:1913875 RGD:1307395 616653 HGNC:21222 "ENST00000369239.10|NM_032870.4" +HGNC:13415 PNCK pregnancy up-regulated nonubiquitous CaM kinase protein-coding gene gene with protein product Approved Xq28 Xq28 "MGC45419|CaMK1b" "pregnancy upregulated non-ubiquitously expressed CaM kinase|pregnancy up-regulated non-ubiquitously expressed CaM kinase" Calmodulin dependent protein kinases 1630 2004-06-25 2013-10-14 2023-03-15 139728 ENSG00000130822 OTTHUMG00000024216 uc065buh.1 BC033746 NM_198452 "CCDS48189|CCDS35503|CCDS94698" Q6P2M8 "11034105|23634203" MGI:1347357 RGD:69249 300680 objectId:2172 2.7.11.17 HGNC:13415 "ENST00000340888.8|NM_001366977.1" +HGNC:21222 PNISR PNN interacting serine and arginine rich protein protein-coding gene gene with protein product Approved 6q16.2 06q16.2 "FLJ14752|bA98I9.2|DKFZp564B0769|SRrp130" "C6orf111|SFRS18" "chromosome 6 open reading frame 111|splicing factor, arginine/serine-rich 18" 2003-11-25 2011-06-06 2016-06-06 2023-01-20 25957 ENSG00000132424 OTTHUMG00000015262 uc003ppo.5 AK027759 NM_032870 "CCDS5043|CCDS93978|CCDS93977" Q8TF01 14578391 MGI:1913875 RGD:1307395 616653 HGNC:21222 "ENST00000369239.10|NM_032870.4" HGNC:40958 PNISR-AS1 PNISR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q16.2 06q16.2 Antisense RNAs 1987 2022-01-07 2022-01-07 101927365 ENSG00000228506 OTTHUMG00000015263 NR_125843 -HGNC:9153 PNKD PNKD metallo-beta-lactamase domain containing protein-coding gene gene with protein product Approved 2q35 02q35 "DYT8|PDC|DKFZp564N1362|FPD1|MR-1|BRP17|FKSG19|TAHCCP2|KIAA1184|KIPP1184|MGC31943|PKND1|MR-1S" myofibrillogenesis regulator 1 "paroxysmal nonkinesiogenic dyskinesia|PNKD, MBL domain containing" "Mitochondrial respiratory chain complex assembly factors|MBL domain containing glyoxalase 2 subfamily|MicroRNA protein coding host genes" "645|1614|1691" 1996-09-13 2019-01-25 2023-01-20 25953 ENSG00000127838 OTTHUMG00000133110 uc002vhn.4 NM_001077399 "CCDS2413|CCDS2411|CCDS42816" Q8N490 "8659518|28199844" MGI:1930773 RGD:2300155 609023 159984 HGNC:9153 "ENST00000273077.9|NM_015488.5" HGNC:9153 +HGNC:9153 PNKD PNKD metallo-beta-lactamase domain containing protein-coding gene gene with protein product Approved 2q35 02q35 "DYT8|PDC|DKFZp564N1362|FPD1|MR-1|BRP17|FKSG19|TAHCCP2|KIAA1184|KIPP1184|MGC31943|PKND1|MR-1S" myofibrillogenesis regulator 1 "paroxysmal nonkinesiogenic dyskinesia|PNKD, MBL domain containing" "Mitochondrial respiratory chain complex assembly factors|MBL domain containing glyoxalase 2 subfamily|MicroRNA protein coding host genes" "645|1614|1691" 1996-09-13 2019-01-25 2023-01-20 25953 ENSG00000127838 OTTHUMG00000133110 uc002vhn.4 NM_001077399 "CCDS42816|CCDS2413|CCDS2411" Q8N490 "8659518|28199844" MGI:1930773 RGD:2300155 609023 159984 HGNC:9153 "ENST00000273077.9|NM_015488.5" HGNC:9153 HGNC:49628 PNKDP1 PNKD pseudogene 1 pseudogene pseudogene Approved Xq26.2 Xq26.2 2014-01-24 2014-01-28 100506715 ENSG00000228089 OTTHUMG00000022418 NG_030161 PGOHUM00000241548 HGNC:49628 HGNC:9154 PNKP polynucleotide kinase 3'-phosphatase protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PNK HAD Asp-based non-protein phosphatases 1045 1999-12-22 2023-01-20 11284 ENSG00000039650 OTTHUMG00000183261 uc002pqj.4 AF126486 NM_007254 CCDS12783 Q96T60 "10446192|10446193" MGI:1891698 RGD:1303331 605610 229787 HGNC:9154 "ENST00000322344.8|NM_007254.4" HGNC:9154 -HGNC:21185 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ40240|dJ195P10.2|Trimmer" "poly(A)-specific ribonuclease (PARN)-like domain containing 1|PARN like, ribonuclease domain containing 1" PARN exonuclease family 2052 2003-05-22 2021-04-15 2023-01-20 154197 ENSG00000146453 OTTHUMG00000015941 uc003qsy.3 AK097559 NM_173516 "CCDS64561|CCDS5271" Q8NA58 "27515512|29444933" MGI:2685159 RGD:1308678 619529 3.1.13.4 HGNC:21185 "ENST00000392167.4|NM_001271862.2" +HGNC:21185 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ40240|dJ195P10.2|Trimmer" "poly(A)-specific ribonuclease (PARN)-like domain containing 1|PARN like, ribonuclease domain containing 1" PARN exonuclease family 2052 2003-05-22 2021-04-15 2023-01-20 154197 ENSG00000146453 OTTHUMG00000015941 uc003qsy.3 AK097559 NM_173516 "CCDS5271|CCDS64561" Q8NA58 "27515512|29444933" MGI:2685159 RGD:1308678 619529 3.1.13.4 HGNC:21185 "ENST00000392167.4|NM_001271862.2" HGNC:9155 PNLIP pancreatic lipase protein-coding gene gene with protein product Approved 10q25.3 10q25.3 PL triacylglycerol lipase Lipases 464 1991-07-24 2023-01-20 5406 ENSG00000175535 OTTHUMG00000019103 uc001lcm.4 BC014309 NM_000936 CCDS7594 P16233 1783385 MGI:97722 RGD:3360 246600 420549 objectId:2590 3.1.1.3 HGNC:9155 "ENST00000369221.2|NM_000936.4" HGNC:9155 HGNC:45264 PNLIPP1 pancreatic lipase pseudogene 1 pseudogene pseudogene Approved 10q25.3 10q25.3 2013-03-12 2013-03-12 100419068 ENSG00000232091 OTTHUMG00000019102 NG_025542 PGOHUM00000238931 HGNC:45264 HGNC:9156 PNLIPRP1 pancreatic lipase related protein 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 PLRP1 1994-04-28 2016-02-12 2023-01-20 5407 ENSG00000187021 OTTHUMG00000019109 uc001lco.2 BC025784 NM_006229 CCDS7595 P54315 1379598 MGI:97723 RGD:620792 604422 HGNC:9156 "ENST00000358834.9|NM_006229.4" @@ -26039,28 +26042,28 @@ HGNC:9157 PNLIPRP2 pancreatic lipase related protein 2 (gene/pseudogene) protein HGNC:23492 PNLIPRP3 pancreatic lipase related protein 3 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 Lipases 464 2004-05-27 2016-02-12 2023-01-20 119548 ENSG00000203837 OTTHUMG00000019100 uc001lcl.5 BC015840 NM_001011709 CCDS31292 Q17RR3 3.1.1.3 HGNC:23492 "ENST00000369230.4|NM_001011709.3" HGNC:9158 PNMA1 PNMA family member 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 MA1 "paraneoplastic antigen MA1|paraneoplastic Ma antigen 1" Paraneoplastic Ma antigens 671 1999-09-17 2017-09-15 2023-01-20 9240 ENSG00000176903 OTTHUMG00000169183 uc001xor.2 AF037364 NM_006029 CCDS9818 Q8ND90 10050892 MGI:2180564 RGD:621230 604010 HGNC:9158 "ENST00000316836.5|NM_006029.5" HGNC:9159 PNMA2 PNMA family member 2 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "MA2|RGAG2" "paraneoplastic antigen MA2|paraneoplastic Ma antigen 2" Paraneoplastic Ma antigens 671 1999-09-17 2017-09-15 2023-01-20 10687 ENSG00000240694 OTTHUMG00000163816 uc003xez.3 NM_007257 CCDS34868 Q9UL42 10362822 MGI:2444129 RGD:1307266 603970 HGNC:9159 "ENST00000522362.7|NM_007257.6" -HGNC:18742 PNMA3 PNMA family member 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "MA5|MA3|MGC132756|MGC132758" paraneoplastic cancer-testis-brain antigen "paraneoplastic antigen MA3|paraneoplastic Ma antigen 3" Paraneoplastic Ma antigens 671 2002-08-01 2017-09-15 2023-01-20 29944 ENSG00000183837 OTTHUMG00000024195 uc033far.2 AF083116 NM_013364 "CCDS35435|CCDS65344" Q9UL41 11558790 MGI:2180565 RGD:1563752 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PNMA3 300675 HGNC:18742 "ENST00000593810.3|NM_013364.6" +HGNC:18742 PNMA3 PNMA family member 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "MA5|MA3|MGC132756|MGC132758" paraneoplastic cancer-testis-brain antigen "paraneoplastic antigen MA3|paraneoplastic Ma antigen 3" Paraneoplastic Ma antigens 671 2002-08-01 2017-09-15 2023-01-20 29944 ENSG00000183837 OTTHUMG00000024195 uc033far.2 AF083116 NM_013364 "CCDS65344|CCDS35435" Q9UL41 11558790 MGI:2180565 RGD:1563752 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PNMA3 300675 HGNC:18742 "ENST00000593810.3|NM_013364.6" HGNC:18743 PNMA5 PNMA family member 5 protein-coding gene gene with protein product Approved Xq28 Xq28 KIAA1934 paraneoplastic antigen family 5 "paraneoplastic antigen like 5|paraneoplastic Ma antigen family member 5" Paraneoplastic Ma antigens 671 2002-08-01 2017-09-15 2023-01-20 114824 ENSG00000198883 OTTHUMG00000024184 uc022chm.2 AB067521 NM_052926 CCDS14718 Q96PV4 16214224 MGI:2180566 RGD:1565857 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PNMA5 300916 HGNC:18743 "ENST00000535214.6|NM_001184924.2" HGNC:28248 PNMA6A PNMA family member 6A protein-coding gene gene with protein product Approved Xq28 Xq28 MGC15827 PNMA6C "paraneoplastic antigen like 6A|paraneoplastic Ma antigen family member 6C|paraneoplastic antigen like 6C|paraneoplastic Ma antigen family member 6A" Paraneoplastic Ma antigens 671 2004-06-17 2017-09-15 2023-01-20 84968 ENSG00000235961 OTTHUMG00000186485 uc011myl.4 AK055322 NM_032882 CCDS14719 P0CW24 14702039 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PNMA6A 300917 HGNC:28248 "ENST00000421798.5|NM_032882.6" HGNC:26681 PNMA6B PNMA family member 6B (pseudogene) pseudogene pseudogene Approved Xq28 Xq28 PNMA6D "paraneoplastic antigen like 6B|paraneoplastic Ma antigen family member 6B|paraneoplastic Ma antigen family member 6D (pseudogene)|paraneoplastic antigen like 6D|paraneoplastic Ma antigen family member 6D|paraneoplastic Ma antigen family member 6B (pseudogene)" Paraneoplastic Ma antigens 671 2006-07-04 2017-09-15 2020-04-20 728513 ENSG00000268883 OTTHUMG00000186486 NG_033733 HGNC:26681 -HGNC:50767 PNMA6E PNMA family member 6E protein-coding gene gene with protein product Approved Xq28 Xq28 paraneoplastic Ma antigen family member 6E Paraneoplastic Ma antigens 671 2017-02-13 2017-09-15 2023-01-20 649238 ENSG00000214897 OTTHUMG00000024197 NM_001351293 "CCDS94694|CCDS87793" A0A0J9YXQ4 27250503 MGI:5010521 RGD:9254548 PGOHUM00000241609 HGNC:50767 "ENST00000445091.3|NM_001367770.1" +HGNC:50767 PNMA6E PNMA family member 6E protein-coding gene gene with protein product Approved Xq28 Xq28 paraneoplastic Ma antigen family member 6E Paraneoplastic Ma antigens 671 2017-02-13 2017-09-15 2023-01-20 649238 ENSG00000214897 OTTHUMG00000024197 NM_001351293 "CCDS87793|CCDS94694" A0A0J9YXQ4 27250503 MGI:5010521 RGD:9254548 PGOHUM00000241609 HGNC:50767 "ENST00000445091.3|NM_001367770.1" HGNC:53119 PNMA6F PNMA family member 6F protein-coding gene gene with protein product Approved Xq28 Xq28 PNMA6BL paraneoplastic Ma antigen family member 6F Paraneoplastic Ma antigens 671 2017-02-13 2017-09-15 2023-01-20 105373377 ENSG00000225110 OTTHUMG00000067448 NM_001354980 CCDS87792 A0A0J9YX94 "27225868|27250503" MGI:5010521 HGNC:53119 "ENST00000436629.3|NM_001354980.2" -HGNC:25578 PNMA8A PNMA family member 8A protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "KIAA1183L|FLJ10781" PNMAL1 "PNMA-like 1|paraneoplastic Ma antigen family like 1|paraneoplastic Ma antigen family member 8A" Paraneoplastic Ma antigens 671 2007-12-13 2017-03-31 2017-09-15 2023-01-20 55228 ENSG00000182013 OTTHUMG00000169421 uc002peq.5 BC026026 NM_018215 "CCDS33059|CCDS46124" Q86V59 12477932 MGI:1918941 RGD:1310803 HGNC:25578 "ENST00000313683.15|NM_018215.4" +HGNC:25578 PNMA8A PNMA family member 8A protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "KIAA1183L|FLJ10781" PNMAL1 "PNMA-like 1|paraneoplastic Ma antigen family like 1|paraneoplastic Ma antigen family member 8A" Paraneoplastic Ma antigens 671 2007-12-13 2017-03-31 2017-09-15 2023-01-20 55228 ENSG00000182013 OTTHUMG00000169421 uc002peq.5 BC026026 NM_018215 "CCDS46124|CCDS33059" Q86V59 12477932 MGI:1918941 RGD:1310803 HGNC:25578 "ENST00000313683.15|NM_018215.4" HGNC:29206 PNMA8B PNMA family member 8B protein-coding gene gene with protein product Approved 19q13.32 19q13.32 KIAA1183 PNMAL2 "PNMA-like 2|paraneoplastic Ma antigen family like 2|paraneoplastic Ma antigen family member 8B" Paraneoplastic Ma antigens 671 2007-12-13 2017-03-31 2017-09-15 2023-01-20 57469 ENSG00000204851 OTTHUMG00000183426 uc002pes.3 AB033009 NM_020709 CCDS59400 Q9ULN7 10574461 MGI:3645856 RGD:1560435 620159 HGNC:29206 "ENST00000599531.2|NM_020709.3" HGNC:53427 PNMA8C PNMA family member 8C protein-coding gene gene with protein product Approved 19q13.32 19q13.32 paraneoplastic Ma antigen family member 8C Paraneoplastic Ma antigens 671 2017-03-31 2017-09-15 2017-09-15 110806277 ENSG00000277531 OTTHUMG00000186767 NM_001386793 A0A1B0GUJ8 MGI:5625257 RGD:41230706 "ENST00000617053.3|NM_001386793.1" HGNC:9160 PNMT phenylethanolamine N-methyltransferase protein-coding gene gene with protein product Approved 17q12 17q12 PENT 7BS small molecule methyltransferases 2063 1988-08-12 2023-01-20 5409 ENSG00000141744 OTTHUMG00000133209 uc002hsi.3 NM_002686 CCDS11343 P11086 3372503 MGI:97724 RGD:3361 171190 470894 objectId:2496 2.1.1.28 HGNC:9160 "ENST00000269582.3|NM_002686.4" HGNC:9162 PNN pinin, desmosome associated protein protein-coding gene gene with protein product Approved 14q21.1 14q21.1 memA 1997-12-10 2023-01-20 5411 ENSG00000100941 OTTHUMG00000028821 uc001wuw.5 U77718 NM_002687 CCDS9671 Q9H307 8922384 MGI:1100514 RGD:1597086 603154 HGNC:9162 "ENST00000216832.9|NM_002687.4" -HGNC:55974 PNN-AS1 PNN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Antisense RNAs 1987 2021-11-11 2021-11-11 123466206 ENSG00000259083 +HGNC:55974 PNN-AS1 PNN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Antisense RNAs 1987 2021-11-11 2021-11-11 123466206 ENSG00000259083 NR_186208 HGNC:32790 PNO1 partner of NOB1 homolog protein-coding gene gene with protein product Approved 2p14 02p14 RRP20 RNA binding protein KHRBP1 "KH-type RNA binding protein 1|KH-type RNA-binding protein 1|partner of NOB1 homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2006-11-06 2015-07-09 2023-01-20 56902 ENSG00000115946 OTTHUMG00000129563 uc002seh.5 AF164799 NM_020143 CCDS1885 Q9NRX1 15497447 MGI:1913499 RGD:727882 618710 HGNC:32790 "ENST00000263657.7|NM_020143.4" HGNC:9163 PNOC prepronociceptin protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "PPNOC|N/OFQ|NOP" "nocistatin|orphanin FQ" Neuropeptides 1902 1996-05-28 2023-01-20 5368 ENSG00000168081 OTTHUMG00000102125 uc003xgp.5 NM_006228 "CCDS64862|CCDS6066" Q13519 "8710928|10101606" MGI:105308 RGD:3362 601459 ligandId:1681 HGNC:9163 "ENST00000301908.8|NM_006228.5" HGNC:7892 PNP purine nucleoside phosphorylase protein-coding gene gene with protein product Approved 14q11.2 14q11.2 PUNP NP nucleoside phosphorylase 2001-06-22 2009-12-02 2009-12-02 2023-01-20 4860 ENSG00000198805 OTTHUMG00000029546 uc001vxo.5 NM_000270.2 CCDS9552 P00491 6087295 "MGI:97365|MGI:3712328" RGD:1597189 "NPbase: Mutation registry for PNP deficiency|http://structure.bmc.lu.se/idbase/NPbase/|LRG_91|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_91.xml" 164050 123864 objectId:2841 2.4.2.1 HGNC:7892 "ENST00000361505.10|NM_000270.4" HGNC:7892 -HGNC:21246 PNPLA1 patatin like phospholipase domain containing 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "FLJ38755|dJ50J22.1" patatin-like phospholipase domain containing 1 Patatin like phospholipase domain containing 466 2003-05-29 2015-11-23 2023-01-20 285848 ENSG00000180316 OTTHUMG00000014590 uc003olw.2 NM_173676 "CCDS34438|CCDS93903|CCDS54997|CCDS47416" Q8N8W4 "16799181|19029121" MGI:3617850 RGD:1306685 612121 322097 HGNC:21246 "ENST00000636260.2|NM_001374623.1" HGNC:21246 +HGNC:21246 PNPLA1 patatin like phospholipase domain containing 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "FLJ38755|dJ50J22.1" patatin-like phospholipase domain containing 1 Patatin like phospholipase domain containing 466 2003-05-29 2015-11-23 2023-01-20 285848 ENSG00000180316 OTTHUMG00000014590 uc003olw.2 NM_173676 "CCDS93903|CCDS47416|CCDS34438|CCDS54997" Q8N8W4 "16799181|19029121" MGI:3617850 RGD:1306685 612121 322097 HGNC:21246 "ENST00000636260.2|NM_001374623.1" HGNC:21246 HGNC:30802 PNPLA2 patatin like phospholipase domain containing 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "desnutrin|TTS-2.2|ATGL|FP17548|iPLA2zeta" patatin-like phospholipase domain containing 2 "Lipases|Patatin like phospholipase domain containing" "464|466" 2004-09-06 2015-11-23 2023-01-20 57104 ENSG00000177666 OTTHUMG00000133309 uc001lrt.4 AJ278475 NM_020376 CCDS7718 Q96AD5 "8619474|16799181|19029121" MGI:1914103 RGD:1309044 609059 138475 3.1.1.3 HGNC:30802 "ENST00000336615.9|NM_020376.4" HGNC:30802 HGNC:18590 PNPLA3 patatin like phospholipase domain containing 3 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "dJ796I17.1|FLJ22012|adiponutrin|iPLA2epsilon" "C22orf20|ADPN" "chromosome 22 open reading frame 20|adiponutrin|patatin-like phospholipase domain containing 3" "Lipases|Patatin like phospholipase domain containing" "464|466" 2002-04-29 2006-05-26 2015-11-23 2023-01-20 80339 ENSG00000100344 OTTHUMG00000150555 uc003bei.1 NM_025225 CCDS14054 Q9NST1 "16799181|19029121" MGI:2151796 RGD:1595843 609567 305021 3.1.1.3 HGNC:18590 "ENST00000216180.8|NM_025225.3" HGNC:24887 PNPLA4 patatin like phospholipase domain containing 4 protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 "DXS1283E|GS2|iPLA2eta" patatin-like phospholipase domain containing 4 Patatin like phospholipase domain containing 466 2004-09-06 2015-11-23 2023-01-20 8228 ENSG00000006757 OTTHUMG00000021103 uc011mhq.2 U03886 NM_004650 "CCDS55368|CCDS14129" P41247 "7806223|16799181|19029121" RGD:1562200 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PNPLA4 300102 3.1.1.3 HGNC:24887 "ENST00000381042.9|NM_004650.3" HGNC:38085 PNPLA4P1 patatin like phospholipase domain containing 4 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 patatin-like phospholipase domain containing 4 pseudogene 1 2010-04-12 2015-11-23 2015-11-23 100462832 ENSG00000235451 OTTHUMG00000036403 NG_024801 PGOHUM00000233963 HGNC:38085 HGNC:24888 PNPLA5 patatin like phospholipase domain containing 5 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "dJ388M5.4|GS2L" patatin-like phospholipase domain containing 5 Patatin like phospholipase domain containing 466 2004-09-06 2015-11-23 2023-01-20 150379 ENSG00000100341 OTTHUMG00000030779 uc062eyk.1 Z97055 NM_138814 "CCDS14053|CCDS54537" Q7Z6Z6 "16799181|19029121" MGI:1923022 RGD:1307495 611589 HGNC:24888 "ENST00000216177.9|NM_138814.4" -HGNC:16268 PNPLA6 patatin like phospholipase domain containing 6 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "NTE|sws|iPLA2delta|SPG39" neuropathy target esterase patatin-like phospholipase domain containing 6 Patatin like phospholipase domain containing 466 2006-07-05 2015-11-23 2023-01-20 10908 ENSG00000032444 OTTHUMG00000182094 uc002mgq.3 AJ004832 NM_006702 "CCDS54207|CCDS32891|CCDS54206|CCDS59343" Q8IY17 "9576844|16799181|19029121" MGI:1354723 RGD:1564611 603197 158087 HGNC:16268 "ENST00000600737.6|NM_001166114.2" HGNC:16268 +HGNC:16268 PNPLA6 patatin like phospholipase domain containing 6 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "NTE|sws|iPLA2delta|SPG39" neuropathy target esterase patatin-like phospholipase domain containing 6 Patatin like phospholipase domain containing 466 2006-07-05 2015-11-23 2023-01-20 10908 ENSG00000032444 OTTHUMG00000182094 uc002mgq.3 AJ004832 NM_006702 "CCDS54206|CCDS32891|CCDS59343|CCDS54207" Q8IY17 "9576844|16799181|19029121" MGI:1354723 RGD:1564611 603197 158087 HGNC:16268 "ENST00000600737.6|NM_001166114.2" HGNC:16268 HGNC:24768 PNPLA7 patatin like phospholipase domain containing 7 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "FLJ43070|FLJ31318|FLJ44279|RP11-48C7.2|NTEL1|NTE-R1" C9orf111 "chromosome 9 open reading frame 111|patatin-like phospholipase domain containing 7" Patatin like phospholipase domain containing 466 2004-03-25 2006-06-12 2015-11-23 2023-01-20 375775 ENSG00000130653 OTTHUMG00000020990 uc004cnf.3 AK126267 NM_152286 "CCDS7045|CCDS48070" Q6ZV29 "16799181|12640454|19029121" MGI:2385325 RGD:708466 612122 HGNC:24768 "ENST00000406427.6|NM_001098537.3" HGNC:28900 PNPLA8 patatin like phospholipase domain containing 8 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "IPLA2G|IPLA2-2|iPLA2gamma" calcium-independent phospholipase A2-gamma patatin-like phospholipase domain containing 8 Patatin like phospholipase domain containing 466 2006-06-12 2015-11-23 2023-01-20 50640 ENSG00000135241 OTTHUMG00000154870 uc003vfj.3 AF217519 NM_015723 "CCDS59075|CCDS34733|CCDS59508" Q9NP80 "10744668|10833412|16799181|19029121" MGI:1914702 RGD:1311444 612123 HGNC:28900 "ENST00000257694.13|NM_001256007.3" HGNC:28900 HGNC:32928 PNPLA10P patatin like phospholipase domain containing 10 pseudogene pseudogene pseudogene Approved Xq25 Xq25 patatin-like phospholipase domain containing 10 pseudogene Patatin like phospholipase domain containing 466 2006-06-12 2015-11-23 2020-06-25 643773 ENSG00000230538 XM_927062 16799181 HGNC:32928 @@ -26074,12 +26077,12 @@ HGNC:55238 PNRC1-DT PNRC1 divergent transcript non-coding RNA RNA, long non-codi HGNC:23158 PNRC2 proline rich nuclear receptor coactivator 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 proline-rich nuclear receptor coactivator 2 2003-09-25 2015-11-23 2023-01-20 55629 ENSG00000189266 OTTHUMG00000013891 uc001big.4 AF151042 NM_017761 CCDS246 Q9NPJ4 11574675 MGI:106512 RGD:1642418 611882 HGNC:23158 "ENST00000334351.8|NM_017761.4" HGNC:51933 PNRC2P1 proline rich nuclear receptor coactivator 2 pseudogene 1 pseudogene pseudogene Approved 1p12 01p12 proline-rich nuclear receptor coactivator 2 pseudogene 1 2015-10-06 2015-11-23 2015-11-23 100131261 ENSG00000228217 OTTHUMG00000013705 NG_023333 HGNC:51933 HGNC:24488 POC1A POC1 centriolar protein A protein-coding gene gene with protein product Approved 3p21.2 03p21.2 DKFZP434C245 WDR51A "WD repeat domain 51A|POC1 centriolar protein homolog A (Chlamydomonas)" WD repeat domain containing 362 2005-02-01 2010-03-26 2013-08-21 2023-01-20 25886 ENSG00000164087 OTTHUMG00000157817 uc003dcu.4 AL117629 NM_015426 "CCDS54591|CCDS54592|CCDS2846" Q8NBT0 "19109428|22840364" MGI:1917485 RGD:1565004 614783 316081 HGNC:24488 "ENST00000296484.7|NM_015426.5" HGNC:24488 -HGNC:30836 POC1B POC1 centriolar protein B protein-coding gene gene with protein product Approved 12q21.33 12q21.33 "TUWD12|FLJ14923" WDR51B "WD repeat domain 51B|POC1 centriolar protein homolog B (Chlamydomonas)" WD repeat domain containing 362 2005-02-01 2010-03-26 2013-08-21 2023-01-20 282809 ENSG00000139323 OTTHUMG00000169944 uc001tbc.4 AL832918 NM_172240 "CCDS55859|CCDS31869" Q8TC44 19109428 MGI:1918511 RGD:2323942 614784 410502 HGNC:30836 "ENST00000313546.8|NM_172240.3" HGNC:30836 +HGNC:30836 POC1B POC1 centriolar protein B protein-coding gene gene with protein product Approved 12q21.33 12q21.33 "TUWD12|FLJ14923" WDR51B "WD repeat domain 51B|POC1 centriolar protein homolog B (Chlamydomonas)" WD repeat domain containing 362 2005-02-01 2010-03-26 2013-08-21 2023-01-20 282809 ENSG00000139323 OTTHUMG00000169944 uc001tbc.4 AL832918 NM_172240 "CCDS31869|CCDS55859" Q8TC44 19109428 MGI:1918511 RGD:2323942 614784 410502 HGNC:30836 "ENST00000313546.8|NM_172240.3" HGNC:30836 HGNC:52949 POC1B-AS1 POC1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 RP11-734K2.4 Antisense RNAs 1987 2016-12-21 2016-12-21 109729146 ENSG00000270344 OTTHUMG00000184636 NR_146294 27980086 HGNC:52949 HGNC:42957 POC1B-GALNT4 POC1B-GALNT4 readthrough other readthrough Approved 12q21.33 12q21.33 2011-09-28 2023-03-15 100528030 ENSG00000259075 OTTHUMG00000171333 uc001tbe.4 NM_001199781 MGI:894692 HGNC:42957 -HGNC:26658 POC5 POC5 centriolar protein protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "FLJ35779|MGC120442|MGC120443|MGC120444|hPOC5" C5orf37 "chromosome 5 open reading frame 37|POC5 centriolar protein homolog (Chlamydomonas)" 2007-02-06 2010-03-26 2013-08-05 2023-01-20 134359 ENSG00000152359 OTTHUMG00000162487 uc003keh.5 AK093098 NM_152408 "CCDS47236|CCDS47237" Q8NA72 19349582 MGI:1914713 RGD:1310597 617880 HGNC:26658 "ENST00000428202.7|NM_001099271.2" HGNC:26658 +HGNC:26658 POC5 POC5 centriolar protein protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "FLJ35779|MGC120442|MGC120443|MGC120444|hPOC5" C5orf37 "chromosome 5 open reading frame 37|POC5 centriolar protein homolog (Chlamydomonas)" 2007-02-06 2010-03-26 2013-08-05 2023-01-20 134359 ENSG00000152359 OTTHUMG00000162487 uc003keh.5 AK093098 NM_152408 "CCDS47237|CCDS47236" Q8NA72 19349582 MGI:1914713 RGD:1310597 617880 HGNC:26658 "ENST00000428202.7|NM_001099271.2" HGNC:26658 HGNC:23174 PODN podocan protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "PCAN|PODOCAN|MGC24995|SLRR5A" podocan proteoglycan Small leucine rich repeat proteoglycans 573 2003-10-15 2023-03-15 127435 ENSG00000174348 OTTHUMG00000008934 uc001cuv.4 AY313607 NM_153703 CCDS573 Q7Z5L7 MGI:2674939 RGD:7545693 608661 HGNC:23174 "ENST00000312553.10|NM_153703.5" -HGNC:26275 PODNL1 podocan like 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "FLJ23447|SLRR5B" 2006-08-21 2016-06-22 2023-01-20 79883 ENSG00000132000 OTTHUMG00000181853 uc002mxr.4 AK027100 NM_024825 "CCDS92539|CCDS92538|CCDS54226|CCDS54225|CCDS12300" Q6PEZ8 12477932 MGI:2685352 RGD:1307753 HGNC:26275 "ENST00000588872.3|NM_001370095.3" +HGNC:26275 PODNL1 podocan like 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "FLJ23447|SLRR5B" 2006-08-21 2016-06-22 2023-01-20 79883 ENSG00000132000 OTTHUMG00000181853 uc002mxr.4 AK027100 NM_024825 "CCDS54225|CCDS92539|CCDS54226|CCDS12300|CCDS92538" Q6PEZ8 12477932 MGI:2685352 RGD:1307753 HGNC:26275 "ENST00000588872.3|NM_001370095.3" HGNC:9171 PODXL podocalyxin like protein-coding gene gene with protein product Approved 7q32.3 07q32.3 "PCLP|Gp200|PC|PODXL1|PDX|gp135" podocalyxin-like 1997-07-11 2016-01-27 2023-01-20 5420 ENSG00000128567 OTTHUMG00000154918 uc003vqw.5 NM_001018111 "CCDS34755|CCDS47714" O00592 "9339384|20706633" MGI:1351317 RGD:621878 602632 474429 HGNC:9171 "ENST00000378555.8|NM_001018111.3" HGNC:9171 HGNC:17936 PODXL2 podocalyxin like 2 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "PODLX2|endoglycan|EG" endoglycan podocalyxin-like 2 2004-07-21 2016-01-27 2023-05-03 50512 ENSG00000114631 OTTHUMG00000159642 uc003ejq.4 AF219137 NM_015720 CCDS3044 Q9NZ53 10722749 MGI:2442488 RGD:1305815 616627 HGNC:17936 "ENST00000342480.7|NM_015720.4" HGNC:13711 POF1B POF1B actin binding protein protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "POF|FLJ22792" premature ovarian failure, 1B 2004-06-01 2019-01-21 2023-01-20 79983 ENSG00000124429 OTTHUMG00000021934 uc004eer.3 BC017500 NM_024921 "CCDS14452|CCDS78497" Q8WVV4 "11299520|16773570" MGI:1916943 RGD:1560798 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/POF1B 300603 117921 HGNC:13711 "ENST00000262753.9|NM_024921.4" @@ -26090,42 +26093,42 @@ HGNC:22954 POGLUT1 protein O-glucosyltransferase 1 protein-coding gene gene with HGNC:19350 POGLUT2 protein O-glucosyltransferase 2 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 "MGC5302|EP58" KDELC1 "KDEL (Lys-Asp-Glu-Leu) containing 1|KDEL motif containing 1" Glycosyltransferase family 90 443 2002-12-16 2019-02-14 2019-02-14 2023-01-20 79070 ENSG00000134901 OTTHUMG00000017307 uc001vpq.5 BC001297 NM_001318732 CCDS9504 Q6UW63 30127001 MGI:1919300 RGD:1304684 611613 HGNC:19350 "ENST00000376004.5|NM_024089.3" HGNC:39193 POGLUT2P1 POGLUT2 pseudogene 1 pseudogene pseudogene Approved 5q23.3 05q23.3 KDELC1P1 "KDEL (Lys-Asp-Glu-Leu) containing 1 pseudogene 1|KDEL motif containing 1 pseudogene 1" 2010-11-18 2021-03-24 2021-03-24 2021-03-24 100144494 ENSG00000250329 OTTHUMG00000163270 NG_007523 PGOHUM00000235750 HGNC:39193 HGNC:28496 POGLUT3 protein O-glucosyltransferase 3 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 MGC33424 KDELC2 "KDEL (Lys-Asp-Glu-Leu) containing 2|KDEL motif containing 2" Glycosyltransferase family 90 443 2004-07-27 2019-02-14 2019-02-14 2023-01-20 143888 ENSG00000178202 OTTHUMG00000166535 uc001pkj.3 AF533708 NM_153705 CCDS41711 Q7Z4H8 "12975309|30127001" MGI:1923765 RGD:1562027 618503 HGNC:28496 "ENST00000323468.10|NM_153705.5" -HGNC:18801 POGZ pogo transposable element derived with ZNF domain protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KIAA0461|ZNF635|ZNF280E" "zinc finger protein 280E|putative protein product of Nbla00003" pogo transposable element with ZNF domain "Zinc fingers C2H2-type|Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "28|533|1415" 2002-08-29 2017-03-30 2023-01-20 23126 ENSG00000143442 OTTHUMG00000012499 uc001eyd.2 AB007930 NM_207171 "CCDS91052|CCDS44222|CCDS53366|CCDS998|CCDS997|CCDS53365" Q7Z3K3 10976766 MGI:2442117 RGD:1309980 614787 470896 HGNC:18801 "ENST00000271715.7|NM_015100.4" HGNC:18801 -HGNC:9173 POLA1 DNA polymerase alpha 1, catalytic subunit protein-coding gene gene with protein product Approved Xp22.11-p21.3 Xp22.11-p21.3 p180 "POLA|NSX" "polymerase (DNA directed), alpha|N syndrome (mental retardation, malformations, chromosome breakage)|polymerase (DNA) alpha 1, catalytic subunit" DNA polymerases 535 2001-06-22 2006-09-26 2018-04-23 2023-01-20 5422 ENSG00000101868 OTTHUMG00000021277 uc004dbl.4 NM_016937 "CCDS83462|CCDS14214" P09884 1689958 MGI:99660 RGD:621816 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/POLA1 312040 460832 2.7.7.7 HGNC:9173 "ENST00000379068.8|NM_001330360.2" HGNC:9173 +HGNC:18801 POGZ pogo transposable element derived with ZNF domain protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KIAA0461|ZNF635|ZNF280E" "zinc finger protein 280E|putative protein product of Nbla00003" pogo transposable element with ZNF domain "Zinc fingers C2H2-type|Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "28|533|1415" 2002-08-29 2017-03-30 2023-01-20 23126 ENSG00000143442 OTTHUMG00000012499 uc001eyd.2 AB007930 NM_207171 "CCDS997|CCDS44222|CCDS91052|CCDS53366|CCDS53365|CCDS998" Q7Z3K3 10976766 MGI:2442117 RGD:1309980 614787 470896 HGNC:18801 "ENST00000271715.7|NM_015100.4" HGNC:18801 +HGNC:9173 POLA1 DNA polymerase alpha 1, catalytic subunit protein-coding gene gene with protein product Approved Xp22.11-p21.3 Xp22.11-p21.3 p180 "POLA|NSX" "polymerase (DNA directed), alpha|N syndrome (mental retardation, malformations, chromosome breakage)|polymerase (DNA) alpha 1, catalytic subunit" DNA polymerases 535 2001-06-22 2006-09-26 2018-04-23 2023-01-20 5422 ENSG00000101868 OTTHUMG00000021277 uc004dbl.4 NM_016937 "CCDS14214|CCDS83462" P09884 1689958 MGI:99660 RGD:621816 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/POLA1 312040 460832 2.7.7.7 HGNC:9173 "ENST00000379068.8|NM_001330360.2" HGNC:9173 HGNC:30073 POLA2 DNA polymerase alpha 2, accessory subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FLJ21662 "DNA polymerase alpha subunit B|DNA polymerase alpha 70 kDa subunit" "polymerase (DNA directed), alpha 2 (70kD subunit)|polymerase (DNA) alpha 2, accessory subunit" DNA polymerases 535 2005-01-10 2018-04-23 2023-01-20 23649 ENSG00000014138 OTTHUMG00000165951 uc001odj.4 BC002990 NM_002689 CCDS8098 Q14181 "8223465|11433027" MGI:99690 RGD:621817 620063 HGNC:30073 "ENST00000265465.8|NM_002689.4" HGNC:9174 POLB DNA polymerase beta protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "polymerase (DNA directed), beta|polymerase (DNA) beta" DNA polymerases 535 2001-06-22 2016-07-11 2023-01-20 5423 ENSG00000070501 OTTHUMG00000164093 uc003xoz.3 NM_002690 CCDS6129 P06746 MGI:97740 RGD:3363 174760 2.7.7.7 HGNC:9174 "ENST00000265421.9|NM_002690.3" -HGNC:9175 POLD1 DNA polymerase delta 1, catalytic subunit protein-coding gene gene with protein product Approved 19q13.3 19q13.3 CDC2 CDC2 homolog (S. cerevisiae) POLD "polymerase (DNA directed), delta 1, catalytic subunit (125kD)|polymerase (DNA) delta 1, catalytic subunit" DNA polymerases 535 1992-02-06 2016-07-26 2023-01-20 5424 ENSG00000062822 OTTHUMG00000183037 uc002psb.6 NM_001256849 "CCDS12795|CCDS82381" P28340 1722322 MGI:97741 RGD:621839 LRG_785|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_785.xml POLD1 174761 365133 HGNC:9175 "ENST00000440232.7|NM_002691.4" HGNC:9175 +HGNC:9175 POLD1 DNA polymerase delta 1, catalytic subunit protein-coding gene gene with protein product Approved 19q13.3 19q13.3 CDC2 CDC2 homolog (S. cerevisiae) POLD "polymerase (DNA directed), delta 1, catalytic subunit (125kD)|polymerase (DNA) delta 1, catalytic subunit" DNA polymerases 535 1992-02-06 2016-07-26 2023-01-20 5424 ENSG00000062822 OTTHUMG00000183037 uc002psb.6 NM_001256849 "CCDS82381|CCDS12795" P28340 1722322 MGI:97741 RGD:621839 LRG_785|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_785.xml POLD1 174761 365133 HGNC:9175 "ENST00000440232.7|NM_002691.4" HGNC:9175 HGNC:9176 POLD2 DNA polymerase delta 2, accessory subunit protein-coding gene gene with protein product Approved 7p13 07p13 "Pol delta B subunit (p50)|DNA polymerase delta subunit p50" "polymerase (DNA directed), delta 2, regulatory subunit (50kD)|polymerase (DNA directed), delta 2, regulatory subunit 50kDa|polymerase (DNA) delta 2, accessory subunit" DNA polymerases 535 1995-05-30 2016-07-26 2023-01-20 5425 ENSG00000106628 OTTHUMG00000022909 uc010kxz.5 NM_001127218 CCDS5477 P49005 8530069 MGI:1097163 RGD:1304954 600815 HGNC:9176 "ENST00000610533.6|NM_006230.4" HGNC:41522 POLD2P1 DNA polymerase delta 2, accessory subunit pseudogene 1 pseudogene pseudogene Approved 5q15 05q15 "polymerase (DNA directed), delta 2, regulatory subunit 50kDa pseudogene 1|polymerase (DNA) delta 2, accessory subunit pseudogene 1" 2011-05-04 2016-07-11 2016-07-11 391811 ENSG00000213730 OTTHUMG00000162647 NG_021890 PGOHUM00000235694 HGNC:41522 HGNC:20932 POLD3 DNA polymerase delta 3, accessory subunit protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "P66|KIAA0039|P68|PPP1R128" "DNA polymerase delta subunit p66|Pol delta C subunit (p66)|protein phosphatase 1, regulatory subunit 128" "polymerase (DNA-directed), delta 3, accessory subunit|polymerase (DNA) delta 3, accessory subunit" "DNA polymerases|Protein phosphatase 1 regulatory subunits" "535|694" 2003-12-10 2016-07-11 2023-01-20 10714 ENSG00000077514 OTTHUMG00000165621 uc001ovf.3 D26018 NM_006591 "CCDS8233|CCDS86228" Q15054 10219083 MGI:1915217 RGD:1312027 611415 HGNC:20932 "ENST00000263681.7|NM_006591.3" -HGNC:14106 POLD4 DNA polymerase delta 4, accessory subunit protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "p12|POLDS" DNA polymerase delta smallest subunit p12 "polymerase (DNA-directed), delta 4, accessory subunit|polymerase (DNA) delta 4, accessory subunit" DNA polymerases 535 2000-12-04 2016-07-11 2023-01-20 57804 ENSG00000175482 OTTHUMG00000167135 uc001okm.5 AF179890 NM_021173 "CCDS8158|CCDS58149" Q9HCU8 10751307 MGI:1916995 RGD:1308519 611525 HGNC:14106 "ENST00000312419.8|NM_021173.5" +HGNC:14106 POLD4 DNA polymerase delta 4, accessory subunit protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "p12|POLDS" DNA polymerase delta smallest subunit p12 "polymerase (DNA-directed), delta 4, accessory subunit|polymerase (DNA) delta 4, accessory subunit" DNA polymerases 535 2000-12-04 2016-07-11 2023-01-20 57804 ENSG00000175482 OTTHUMG00000167135 uc001okm.5 AF179890 NM_021173 "CCDS58149|CCDS8158" Q9HCU8 10751307 MGI:1916995 RGD:1308519 611525 HGNC:14106 "ENST00000312419.8|NM_021173.5" HGNC:23781 POLDIP2 DNA polymerase delta interacting protein 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "PDIP38|DKFZP586F1524" polymerase (DNA-directed), delta interacting protein 2 2004-01-27 2016-07-11 2023-01-20 26073 ENSG00000004142 OTTHUMG00000132065 uc032ezc.2 AF077203 NM_015584 "CCDS76978|CCDS74018" Q9Y2S7 12522211 MGI:1915061 RGD:1307022 611519 HGNC:23781 "ENST00000540200.6|NM_015584.5" -HGNC:23782 POLDIP3 DNA polymerase delta interacting protein 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "PDIP46|KIAA1649|SKAR|PDIP3" S6K1 Aly/REF-like target polymerase (DNA-directed), delta interacting protein 3 RNA binding motif containing 725 2004-01-27 2016-07-11 2023-01-20 84271 ENSG00000100227 OTTHUMG00000150887 uc003bcu.4 NM_032311 "CCDS74873|CCDS14039|CCDS14038" Q9BY77 12522211 MGI:1921076 RGD:1311073 611520 HGNC:23782 "ENST00000252115.10|NM_032311.5" +HGNC:23782 POLDIP3 DNA polymerase delta interacting protein 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "PDIP46|KIAA1649|SKAR|PDIP3" S6K1 Aly/REF-like target polymerase (DNA-directed), delta interacting protein 3 RNA binding motif containing 725 2004-01-27 2016-07-11 2023-01-20 84271 ENSG00000100227 OTTHUMG00000150887 uc003bcu.4 NM_032311 "CCDS14039|CCDS14038|CCDS74873" Q9BY77 12522211 MGI:1921076 RGD:1311073 611520 HGNC:23782 "ENST00000252115.10|NM_032311.5" HGNC:9177 POLE DNA polymerase epsilon, catalytic subunit protein-coding gene gene with protein product Approved 12q24.33 12q24.33 POLE1 DNA polymerase epsilon catalytic subunit A "polymerase (DNA directed), epsilon|polymerase (DNA) epsilon, catalytic subunit" DNA polymerases 535 1992-02-06 2016-07-11 2023-01-20 5426 ENSG00000177084 OTTHUMG00000168045 uc001uks.3 NM_006231 CCDS9278 Q07864 8020968 MGI:1196391 RGD:1594540 LRG_789|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_789.xml POLE 174762 356190 HGNC:9177 "ENST00000320574.10|NM_006231.4" HGNC:9177 -HGNC:9178 POLE2 DNA polymerase epsilon 2, accessory subunit protein-coding gene gene with protein product Approved 14q21.3 14q21.3 DPE2 DNA polymerase epsilon subunit B "polymerase (DNA directed), epsilon 2 (p59 subunit)|polymerase (DNA) epsilon 2, accessory subunit" DNA polymerases 535 1998-07-03 2016-07-11 2023-01-20 5427 ENSG00000100479 OTTHUMG00000170813 uc001wwu.4 AF025840 NM_002692 "CCDS32073|CCDS55914|CCDS55915" P56282 "9405441|9443964" MGI:1197514 RGD:1311962 602670 HGNC:9178 "ENST00000216367.10|NM_002692.4" +HGNC:9178 POLE2 DNA polymerase epsilon 2, accessory subunit protein-coding gene gene with protein product Approved 14q21.3 14q21.3 DPE2 DNA polymerase epsilon subunit B "polymerase (DNA directed), epsilon 2 (p59 subunit)|polymerase (DNA) epsilon 2, accessory subunit" DNA polymerases 535 1998-07-03 2016-07-11 2023-01-20 5427 ENSG00000100479 OTTHUMG00000170813 uc001wwu.4 AF025840 NM_002692 "CCDS55914|CCDS55915|CCDS32073" P56282 "9405441|9443964" MGI:1197514 RGD:1311962 602670 HGNC:9178 "ENST00000216367.10|NM_002692.4" HGNC:13546 POLE3 DNA polymerase epsilon 3, accessory subunit protein-coding gene gene with protein product Approved 9q32 09q32 "CHRAC17|Ybl1|p17|CHARAC17|CHRAC2" "histone fold protein CHRAC17|DNA polymerase epsilon p17 subunit|chromatin accessibility complex 17|arsenic transactivated protein|chromatin accessibility complex subunit 2" "polymerase (DNA directed), epsilon 3 (p17 subunit)|polymerase (DNA) epsilon 3, accessory subunit" "DNA polymerases|ATAC complex|Chromatin accessibility complex" "535|1058|1633" 2001-09-21 2016-07-11 2023-01-20 54107 ENSG00000148229 OTTHUMG00000020523 uc004bhn.4 AF261689 NM_017443 CCDS6795 Q9NRF9 "10801849|10880450" MGI:1933378 RGD:1359475 607267 HGNC:13546 "ENST00000374171.5|NM_017443.5" HGNC:18755 POLE4 DNA polymerase epsilon 4, accessory subunit protein-coding gene gene with protein product Approved 2p12 02p12 p12 "polymerase (DNA-directed), epsilon 4 (p12 subunit)|polymerase (DNA) epsilon 4, accessory subunit" DNA polymerases 535 2002-07-08 2016-07-11 2023-01-20 56655 ENSG00000115350 OTTHUMG00000129971 uc002snf.4 AF261688 NM_019896 CCDS1957 Q9NR33 10801849 MGI:1914229 RGD:1307793 607269 HGNC:18755 "ENST00000483063.2|NM_019896.4" HGNC:56408 POLE4P1 POLE4 pseudogene 1 pseudogene pseudogene Approved 3p22.3 03p22.3 2022-10-19 2022-10-19 127379694 ENSG00000226955 NG_115695 PGOHUM00000298985 HGNC:9179 POLG DNA polymerase gamma, catalytic subunit protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "POLG1|POLGA" "polymerase (DNA directed), gamma|polymerase (DNA) gamma, catalytic subunit" "DNA polymerases|MicroRNA protein coding host genes" "535|1691" 1992-02-06 2016-07-11 2023-01-20 5428 ENSG00000140521 OTTHUMG00000149646 uc002bns.5 X98093 NM_002693 CCDS10350 P54098 "9465903|32138667" MGI:1196389 RGD:620057 LRG_765|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_765.xml 174763 117925 HGNC:9179 "ENST00000268124.11|NM_002693.3" HGNC:9179 -HGNC:55363 POLG-DT POLG divergent transcript non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Divergent transcripts 1990 2020-11-11 2020-11-11 119545629 ENSG00000261441 +HGNC:55363 POLG-DT POLG divergent transcript non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Divergent transcripts 1990 2020-11-11 2020-11-11 119545629 ENSG00000261441 NR_186332 HGNC:9180 POLG2 DNA polymerase gamma 2, accessory subunit protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "MTPOLB|HP55" "polymerase (DNA directed), gamma 2, accessory subunit|polymerase (DNA) gamma 2, accessory subunit" DNA polymerases 535 1999-09-16 2016-07-11 2023-01-20 11232 ENSG00000256525 OTTHUMG00000178899 uc002jei.4 U94703 NM_007215 CCDS32706 Q9UHN1 9153213 MGI:1354947 RGD:1305128 604983 117927 HGNC:9180 "ENST00000539111.7|NM_007215.4" HGNC:9180 HGNC:56246 POLGARF POLG alternative reading frame protein-coding gene gene with protein product Approved 15q26.1 15q26.1 ORF-Y 2022-05-19 2023-03-08 125316803 ENSG00000291307 NM_001406557 A0A3B3IS91 "32138667|32958672" -HGNC:9181 POLH DNA polymerase eta protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "RAD30A|XP-V" "polymerase (DNA directed), eta|polymerase (DNA) eta" "DNA polymerases|Xeroderma pigmentosum complementation groups" "535|1125" 1997-09-12 2016-07-11 2023-01-20 5429 ENSG00000170734 OTTHUMG00000014743 uc003ovq.5 AB024313 NM_006502 "CCDS78147|CCDS4902" Q9Y253 "20012583|10385124|10398605" MGI:1891457 RGD:1309893 LRG_470|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_470.xml 603968 117931 HGNC:9181 "ENST00000372236.9|NM_006502.3" HGNC:9181 +HGNC:9181 POLH DNA polymerase eta protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "RAD30A|XP-V" "polymerase (DNA directed), eta|polymerase (DNA) eta" "DNA polymerases|Xeroderma pigmentosum complementation groups" "535|1125" 1997-09-12 2016-07-11 2023-01-20 5429 ENSG00000170734 OTTHUMG00000014743 uc003ovq.5 AB024313 NM_006502 "CCDS4902|CCDS78147" Q9Y253 "20012583|10385124|10398605" MGI:1891457 RGD:1309893 LRG_470|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_470.xml 603968 117931 HGNC:9181 "ENST00000372236.9|NM_006502.3" HGNC:9181 HGNC:40459 POLH-AS1 POLH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 RP3-337H4.8 Antisense RNAs 1987 2017-08-30 2017-08-30 111216283 ENSG00000203362 OTTHUMG00000014741 28839111 HGNC:43967 POLHP1 DNA polymerase eta pseudogene 1 pseudogene pseudogene Approved 2q35 02q35 "polymerase (DNA directed), eta pseudogene 1|polymerase (DNA) eta pseudogene 1" 2012-05-18 2016-07-11 2016-07-11 106480782 ENSG00000232970 OTTHUMG00000154829 NG_045122 PGOHUM00000240518 HGNC:43967 HGNC:9182 POLI DNA polymerase iota protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "RAD3OB|RAD30B" "polymerase (DNA directed) iota|polymerase (DNA) iota" DNA polymerases 535 2000-01-24 2016-07-11 2023-01-20 11201 ENSG00000101751 OTTHUMG00000132704 uc002lfj.5 NM_007195 "CCDS11954|CCDS86669|CCDS86670" Q9UNA4 17609217 MGI:1347081 RGD:1305212 605252 HGNC:9182 "ENST00000579534.6|NM_007195.3" HGNC:9183 POLK DNA polymerase kappa protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "POLQ|DINP" "DINB protein|DNA polymerase kappa" DINB1 "polymerase (DNA directed) kappa|polymerase (DNA) kappa" DNA polymerases 535 2000-08-11 2016-07-11 2023-01-20 51426 ENSG00000122008 OTTHUMG00000102107 uc003kdw.4 AB027564 NM_016218 CCDS4030 Q9UBT6 "10887153|10518552" MGI:1349767 RGD:620058 605650 HGNC:9183 HGNC:9184 POLL DNA polymerase lambda protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "polymerase (DNA directed), lambda|polymerase (DNA) lambda" DNA polymerases 535 2000-02-16 2016-07-11 2023-01-20 27343 ENSG00000166169 OTTHUMG00000018933 uc001kti.3 AF161019 NM_013274 "CCDS7513|CCDS76332" Q9UGP5 17686665 MGI:1889000 RGD:1308053 606343 HGNC:9184 "ENST00000370162.8|NM_001174084.2" -HGNC:9185 POLM DNA polymerase mu protein-coding gene gene with protein product Approved 7p13 07p13 Tdt-N Pol iota "polymerase (DNA directed), mu|polymerase (DNA) mu" "DNA polymerases|MicroRNA protein coding host genes" "535|1691" 2000-02-16 2016-07-11 2023-01-20 27434 ENSG00000122678 OTTHUMG00000155353 uc003tjt.5 AF176097 NM_013284 "CCDS34625|CCDS64636|CCDS64635" Q9NP87 10982892 MGI:1860191 RGD:1308247 606344 HGNC:9185 "ENST00000242248.10|NM_013284.4" +HGNC:9185 POLM DNA polymerase mu protein-coding gene gene with protein product Approved 7p13 07p13 Tdt-N Pol iota "polymerase (DNA directed), mu|polymerase (DNA) mu" "DNA polymerases|MicroRNA protein coding host genes" "535|1691" 2000-02-16 2016-07-11 2023-01-20 27434 ENSG00000122678 OTTHUMG00000155353 uc003tjt.5 AF176097 NM_013284 "CCDS64636|CCDS64635|CCDS34625" Q9NP87 10982892 MGI:1860191 RGD:1308247 606344 HGNC:9185 "ENST00000242248.10|NM_013284.4" HGNC:18870 POLN DNA polymerase nu protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "polymerase (DNA directed) nu|polymerase (DNA) nu" DNA polymerases 535 2003-10-03 2016-07-11 2023-01-20 353497 ENSG00000130997 OTTHUMG00000090081 uc062uoj.1 AF044578 NM_181808 CCDS3360 Q7Z5Q5 12794064 MGI:2675617 RGD:7675413 610887 HGNC:18870 "ENST00000511885.6|NM_181808.4" HGNC:9186 POLQ DNA polymerase theta protein-coding gene gene with protein product Approved 3q13.33 03q13.33 POLH "polymerase (DNA directed), theta|polymerase (DNA) theta" DNA polymerases 535 1999-04-15 2016-07-11 2023-01-20 10721 ENSG00000051341 OTTHUMG00000159396 uc003eee.5 AF052573 NM_199420 CCDS33833 O75417 10395804 MGI:2155399 RGD:1309795 POLQ 604419 2.7.7.7 HGNC:9186 "ENST00000264233.6|NM_199420.4" HGNC:17264 POLR1A RNA polymerase I subunit A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "DKFZP586M0122|FLJ21915|RPO1-4|RPA1|RPA190" polymerase (RNA) I polypeptide A, 194kDa RNA polymerase subunits 726 2003-04-01 2016-07-11 2023-01-20 25885 ENSG00000068654 OTTHUMG00000153165 uc002sqs.4 AK025568 NM_015425 CCDS42706 O95602 9236775 MGI:1096397 RGD:620824 616404 457098 HGNC:17264 "ENST00000263857.11|NM_015425.6" HGNC:17264 -HGNC:20454 POLR1B RNA polymerase I subunit B protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "Rpo1-2|FLJ21921|FLJ10816|RPA2|RPA135" polymerase (RNA) I polypeptide B, 128kDa RNA polymerase subunits 726 2003-04-01 2016-07-11 2023-01-20 84172 ENSG00000125630 OTTHUMG00000131314 uc002thw.4 AK001678 NM_019014 "CCDS46395|CCDS62989|CCDS62990|CCDS62988|CCDS2097" Q9H9Y6 MGI:108014 RGD:620822 602000 2.7.7.6 HGNC:20454 "ENST00000263331.10|NM_019014.6" HGNC:20454 +HGNC:20454 POLR1B RNA polymerase I subunit B protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "Rpo1-2|FLJ21921|FLJ10816|RPA2|RPA135" polymerase (RNA) I polypeptide B, 128kDa RNA polymerase subunits 726 2003-04-01 2016-07-11 2023-01-20 84172 ENSG00000125630 OTTHUMG00000131314 uc002thw.4 AK001678 NM_019014 "CCDS62990|CCDS62988|CCDS2097|CCDS46395|CCDS62989" Q9H9Y6 MGI:108014 RGD:620822 602000 2.7.7.6 HGNC:20454 "ENST00000263331.10|NM_019014.6" HGNC:20454 HGNC:20194 POLR1C RNA polymerase I and III subunit C protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "RPA40|RPA39|RPA5|RPAC1|AC40|RPC40" "polymerase (RNA) I polypeptide C, 30kDa|RNA polymerase I subunit C" RNA polymerase subunits 726 2003-04-01 2018-03-06 2023-03-15 9533 ENSG00000171453 OTTHUMG00000014739 uc003ovn.4 AF008442 NM_004875 "CCDS4901|CCDS87408" O15160 "11042152|12446911" MGI:103288 RGD:1309689 610060 250183 HGNC:20194 "ENST00000642195.1|NM_203290.4" HGNC:20194 -HGNC:20422 POLR1D RNA polymerase I and III subunit D protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "RPAC2|RPA16|RPO1-3|RPA9|MGC9850|AC19" "polymerase (RNA) I polypeptide D, 16kDa|RNA polymerase I subunit D" RNA polymerase subunits 726 2003-04-01 2018-03-06 2023-01-20 51082 ENSG00000186184 OTTHUMG00000016635 uc001uro.4 "AF077044|BC018528" "NM_015972|NM_152705" "CCDS9325|CCDS9324|CCDS73555" "P0DPB5|P0DPB6" "11042152|12391170" MGI:108403 RGD:1564358 613715 250168 HGNC:20422 "ENST00000302979.5|NM_015972.4" HGNC:20422 +HGNC:20422 POLR1D RNA polymerase I and III subunit D protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "RPAC2|RPA16|RPO1-3|RPA9|MGC9850|AC19" "polymerase (RNA) I polypeptide D, 16kDa|RNA polymerase I subunit D" RNA polymerase subunits 726 2003-04-01 2018-03-06 2023-01-20 51082 ENSG00000186184 OTTHUMG00000016635 uc001uro.4 "AF077044|BC018528" "NM_015972|NM_152705" "CCDS9324|CCDS73555|CCDS9325" "P0DPB5|P0DPB6" "11042152|12391170" MGI:108403 RGD:1564358 613715 250168 HGNC:20422 "ENST00000302979.5|NM_015972.4" HGNC:20422 HGNC:17631 POLR1E RNA polymerase I subunit E protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "FLJ13390|PAF53|FLJ13970|RPA49" RNA polymerase I associated factor 53 PRAF1 "polymerase (RNA) I associated factor 1|polymerase (RNA) I polypeptide E, 53kDa" RNA polymerase subunits 726 2005-07-11 2006-03-09 2016-07-11 2023-03-15 64425 ENSG00000137054 OTTHUMG00000019920 uc003zzy.2 AK091294 NM_022490 CCDS6611 Q9GZS1 8641287 MGI:1929022 RGD:1565773 HGNC:17631 "ENST00000377798.9|NM_022490.4" HGNC:18027 POLR1F RNA polymerase I subunit F protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "RPA43|A43" TWISTNB TWIST neighbor "RNA polymerase subunits|MicroRNA protein coding host genes" "726|1691" 2003-01-22 2020-03-30 2020-03-30 2023-01-20 221830 ENSG00000105849 OTTHUMG00000152497 uc003sup.2 AK090846 NM_001002926 CCDS34606 Q3B726 "12438708|23150253" MGI:106292 RGD:1307824 608312 HGNC:18027 "ENST00000222567.6|NM_001002926.2" -HGNC:24219 POLR1G RNA polymerase I subunit G protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "ASE-1|CAST|PAF49|RPA34|A34.5" "CD3 epsilon associated protein|antisense to ERCC 1" CD3EAP "CD3e antigen, epsilon polypeptide associated protein|CD3e molecule associated protein" RNA polymerase subunits 726 2005-04-21 2020-03-30 2020-03-30 2023-01-20 10849 ENSG00000117877 OTTHUMG00000182120 uc002pbq.1 U86751 NM_012099 "CCDS74397|CCDS12661" O15446 "10373416|9426281|15226435|23150253" MGI:1917583 RGD:1591707 107325 HGNC:24219 "ENST00000309424.8|NM_012099.3" +HGNC:24219 POLR1G RNA polymerase I subunit G protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "ASE-1|CAST|PAF49|RPA34|A34.5" "CD3 epsilon associated protein|antisense to ERCC 1" CD3EAP "CD3e antigen, epsilon polypeptide associated protein|CD3e molecule associated protein" RNA polymerase subunits 726 2005-04-21 2020-03-30 2020-03-30 2023-01-20 10849 ENSG00000117877 OTTHUMG00000182120 uc002pbq.1 U86751 NM_012099 "CCDS12661|CCDS74397" O15446 "10373416|9426281|15226435|23150253" MGI:1917583 RGD:1591707 107325 HGNC:24219 "ENST00000309424.8|NM_012099.3" HGNC:13182 POLR1H RNA polymerase I subunit H protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "hZR14|HTEX-6|tctex-6|RPA12|A12.2" ZNRD1 zinc ribbon domain containing 1 RNA polymerase subunits 726 2000-04-13 2020-03-30 2020-03-30 2023-01-20 30834 ENSG00000066379 OTTHUMG00000031149 uc003npa.5 AF024617 NM_001278785 CCDS4670 Q9P1U0 "8938444|10662553|23150253" MGI:1913386 RGD:1303114 607525 HGNC:13182 "ENST00000332435.10|NM_170783.4" HGNC:13924 POLR1HASP POLR1H antisense, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "HTEX4|Em:AB023056.3|HCGVIII|HCGVIII-1" "C6orf12|NCRNA00171|ZNRD1AS|ZNRD1-AS|ZNRD1-AS1|HCG8|ZNRD1ASP" "chromosome 6 open reading frame 12|non-protein coding RNA 171|ZNRD1 antisense RNA (non-protein coding)|ZNRD1 antisense RNA 1 (non-protein coding)|ZNRD1 antisense RNA 1|HLA complex group 8|zinc ribbon domain containing 1 antisense, pseudogene" 2002-11-18 2022-06-17 2022-06-17 2022-06-17 80862 ENSG00000204623 OTTHUMG00000191729 uc011dme.2 AF032110 NR_026751 "9553157|11130983|25110835" MGI:1923666 RGD:1590246 615714 HGNC:13924 HGNC:9187 POLR2A RNA polymerase II subunit A protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "POLRA|RPB1" "DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit|RNA polymerase II subunit B1" POLR2 polymerase (RNA) II (DNA directed) polypeptide A, 220kDa RNA polymerase subunits 726 1986-01-01 2016-07-11 2021-05-26 5430 ENSG00000181222 OTTHUMG00000177594 uc060apt.1 NM_000937 P24928 MGI:98086 RGD:1587326 180660 2.7.7.6 HGNC:9187 HGNC:9187 @@ -26138,7 +26141,7 @@ HGNC:54765 POLR2DP2 POLR2D pseudogene 2 pseudogene pseudogene Approved 7q31.2 07 HGNC:9192 POLR2E RNA polymerase II, I and III subunit E protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "RPB5|RPABC1|XAP4|hRPB25|hsRPB5" DNA directed RNA polymerase II 23 kda polypeptide "polymerase (RNA) II (DNA directed) polypeptide E (25kD)|RNA polymerase II subunit E" RNA polymerase subunits 726 1993-12-07 2020-05-21 2023-01-20 5434 ENSG00000099817 OTTHUMG00000181873 uc002lre.5 NM_002695 CCDS12056 P19388 8034326 MGI:1913670 RGD:1589817 180664 HGNC:9192 "ENST00000615234.5|NM_002695.5" HGNC:9193 POLR2F RNA polymerase II, I and III subunit F protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "RPB6|HRBP14.4" DNA directed RNA polymerase II 14.4 kda polypeptide "polymerase (RNA) II (DNA directed) polypeptide F|RNA polymerase II subunit F" "RNA polymerase subunits|MicroRNA protein coding host genes" "726|1691" 1993-12-07 2020-05-21 2023-01-20 5435 ENSG00000100142 OTTHUMG00000151160 uc003aul.4 NM_021974 "CCDS77673|CCDS87025|CCDS13963" P61218 8786150 MGI:1349393 RGD:708567 604414 HGNC:9193 "ENST00000442738.7|NM_021974.5" HGNC:9194 POLR2G RNA polymerase II subunit G protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "hRPB19|hsRPB7|RPB7" polymerase (RNA) II (DNA directed) polypeptide G RNA polymerase subunits 726 1993-12-07 2016-07-11 2023-01-20 5436 ENSG00000168002 OTTHUMG00000167609 uc001nva.4 U20659 NM_002696 CCDS31585 P62487 "7579693|9256063" MGI:1914960 RGD:621284 602013 HGNC:9194 "ENST00000301788.12|NM_002696.3" -HGNC:9195 POLR2H RNA polymerase II, I and III subunit H protein-coding gene gene with protein product Approved 3q27.1 03q27.1 RPB8 "polymerase (RNA) II (DNA directed) polypeptide H|RNA polymerase II subunit H" RNA polymerase subunits 726 1993-12-07 2020-05-21 2023-01-20 5437 ENSG00000163882 OTTHUMG00000156746 uc062qvy.1 NM_006232 "CCDS63861|CCDS63862|CCDS63860|CCDS3264|CCDS63859" P52434 MGI:2384309 RGD:1561203 606023 HGNC:9195 "ENST00000456318.6|NM_006232.5" +HGNC:9195 POLR2H RNA polymerase II, I and III subunit H protein-coding gene gene with protein product Approved 3q27.1 03q27.1 RPB8 "polymerase (RNA) II (DNA directed) polypeptide H|RNA polymerase II subunit H" RNA polymerase subunits 726 1993-12-07 2020-05-21 2023-01-20 5437 ENSG00000163882 OTTHUMG00000156746 uc062qvy.1 NM_006232 "CCDS63860|CCDS63859|CCDS3264|CCDS63861|CCDS63862" P52434 MGI:2384309 RGD:1561203 606023 HGNC:9195 "ENST00000456318.6|NM_006232.5" HGNC:9196 POLR2I RNA polymerase II subunit I protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "RPB9|hRPB14.5" polymerase (RNA) II (DNA directed) polypeptide I (14.5kD) RNA polymerase subunits 726 1993-12-07 2016-07-11 2023-01-20 5438 ENSG00000105258 OTTHUMG00000181749 uc002ode.4 NM_006233 CCDS12487 P36954 8034326 MGI:1917170 RGD:1309395 180662 2.7.7.6 HGNC:9196 "ENST00000221859.9|NM_006233.5" HGNC:9197 POLR2J RNA polymerase II subunit J protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "RPB11|hRPB14|RPB11A|RPB11m|POLR2J1" polymerase (RNA) II (DNA directed) polypeptide J (13.3kD) RNA polymerase subunits 726 1993-12-07 2016-07-11 2023-01-20 5439 ENSG00000005075 OTTHUMG00000150387 uc003uzp.2 X98433 NM_006234 CCDS5724 P52435 MGI:109582 RGD:1310198 604150 HGNC:9197 "ENST00000292614.10|NM_006234.6" HGNC:23208 POLR2J2 RNA polymerase II subunit J2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 RPB11b1 polymerase (RNA) II (DNA directed) polypeptide J2 RNA polymerase subunits 726 2008-08-20 2016-07-11 2023-03-15 246721 ENSG00000228049 OTTHUMG00000150388 uc022ajl.3 NM_032959 CCDS43627 Q9GZM3 15586814 MGI:109582 609881 HGNC:23208 "ENST00000333432.9|NM_032959.7" @@ -26149,15 +26152,15 @@ HGNC:42650 POLR2KP1 RNA polymerase II subunit K pseudogene 1 pseudogene pseudoge HGNC:42652 POLR2KP2 RNA polymerase II subunit K pseudogene 2 pseudogene pseudogene Approved 13q14.2 13q14.2 polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 2 2011-08-10 2016-07-11 2016-07-11 100129174 ENSG00000224510 OTTHUMG00000016892 NG_027665 PGOHUM00000256722 HGNC:42652 HGNC:9199 POLR2L RNA polymerase II, I and III subunit L protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "RPB10beta|RBP10|RPABC5|RPB7.6|hRPB7.6|hsRPB10b" "polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa|RNA polymerase II subunit L" RNA polymerase subunits 726 1993-12-07 2020-05-21 2023-01-20 5441 ENSG00000177700 OTTHUMG00000133316 uc001lsc.4 U37690 NM_021128 CCDS7720 P62875 8786124 MGI:1913741 RGD:1566209 601189 HGNC:9199 "ENST00000322028.5|NM_021128.5" HGNC:31340 POLR2LP1 RNA polymerase II subunit L pseudogene 1 pseudogene pseudogene Approved 6p21.33 06p21.33 AB023060.6 POLR2LP polymerase (RNA) II (DNA directed) polypeptide L pseudogene 2004-11-25 2016-03-01 2016-07-11 2016-07-11 493825 ENSG00000238211 OTTHUMG00000031249 NG_021348 PGOHUM00000301748 HGNC:31340 -HGNC:14862 POLR2M RNA polymerase II subunit M protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "Gdown|Gdown1" GRINL1A "glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A|polymerase (RNA) II (DNA directed) polypeptide M|polymerase (RNA) II subunit M" RNA polymerase subunits 726 2001-03-28 2011-11-07 2016-07-11 2023-01-20 81488 ENSG00000255529 OTTHUMG00000166486 uc002aet.6 AF326773 NM_001018102 "CCDS32252|CCDS42045" "P0CAP2|Q6EEV4" "16769904|22850672" MGI:107282 RGD:619847 606485 HGNC:14862 "ENST00000299638.8|NM_015532.5" +HGNC:14862 POLR2M RNA polymerase II subunit M protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "Gdown|Gdown1" GRINL1A "glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A|polymerase (RNA) II (DNA directed) polypeptide M|polymerase (RNA) II subunit M" RNA polymerase subunits 726 2001-03-28 2011-11-07 2016-07-11 2023-01-20 81488 ENSG00000255529 OTTHUMG00000166486 uc002aet.6 AF326773 NM_001018102 "CCDS42045|CCDS32252" "P0CAP2|Q6EEV4" "16769904|22850672" MGI:107282 RGD:619847 606485 HGNC:14862 "ENST00000299638.8|NM_015532.5" HGNC:15712 POLR2MP1 POLR2M pseudogene 1 pseudogene pseudogene Approved 4q13.2 04q13.2 GLURR2 "GRINL1B|GCOM2" "glutamate receptor, ionotropic, N-methyl D-aspartate-like 1B|GRINL1B complex locus 2 (pseudogene)" 2001-05-23 2020-12-11 2020-12-11 2020-12-11 339970 ENSG00000227725 OTTHUMG00000160803 AF326970 NG_009901 12063407 608311 HGNC:15712 HGNC:30074 POLR3A RNA polymerase III subunit A protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "RPC1|RPC155|hRPC155|C160" polymerase (RNA) III (DNA directed) polypeptide A, 155kDa RNA polymerase subunits 726 2004-09-16 2016-07-11 2023-01-20 11128 ENSG00000148606 OTTHUMG00000018550 uc001jzn.4 AF021351 NM_007055 CCDS7354 O14802 "9331371|12391170" MGI:2681836 RGD:1305574 614258 285106 HGNC:30074 "ENST00000372371.8|NM_007055.4" HGNC:30074 -HGNC:30348 POLR3B RNA polymerase III subunit B protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "RPC2|FLJ10388|C128" polymerase (RNA) III (DNA directed) polypeptide B RNA polymerase subunits 726 2004-04-21 2016-07-11 2023-01-20 55703 ENSG00000013503 OTTHUMG00000170077 uc001tlp.3 AY092084 NM_018082 "CCDS9105|CCDS53824" Q9NW08 12391170 MGI:1917678 RGD:1565311 614366 285118 HGNC:30348 "ENST00000228347.9|NM_018082.6" HGNC:30348 +HGNC:30348 POLR3B RNA polymerase III subunit B protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "RPC2|FLJ10388|C128" polymerase (RNA) III (DNA directed) polypeptide B RNA polymerase subunits 726 2004-04-21 2016-07-11 2023-01-20 55703 ENSG00000013503 OTTHUMG00000170077 uc001tlp.3 AY092084 NM_018082 "CCDS53824|CCDS9105" Q9NW08 12391170 MGI:1917678 RGD:1565311 614366 285118 HGNC:30348 "ENST00000228347.9|NM_018082.6" HGNC:30348 HGNC:30076 POLR3C RNA polymerase III subunit C protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "RPC62|RPC3|C82" polymerase (RNA) III (DNA directed) polypeptide C (62kD) RNA polymerase subunits 726 2004-04-21 2016-07-11 2023-01-20 10623 ENSG00000186141 OTTHUMG00000013753 uc001eoh.3 AJ238234 NM_006468 CCDS72864 Q9BUI4 "9171375|12391170" MGI:1921664 RGD:1311545 617454 HGNC:30076 "ENST00000334163.4|NM_006468.8" HGNC:1080 POLR3D RNA polymerase III subunit D protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "TSBN51|RPC4|C53" BN51T "BN51 (BHK21) temperature sensitivity complementing|polymerase (RNA) III (DNA directed) polypeptide D, 44kDa" RNA polymerase subunits 726 1989-05-25 2003-04-04 2016-07-11 2023-01-20 661 ENSG00000168495 OTTHUMG00000163778 uc003xbm.4 M17754 NM_001722 CCDS34858 P05423 "12391170|11279001" MGI:1914315 RGD:1311816 187280 HGNC:1080 "ENST00000306433.9|NM_001722.3" HGNC:45107 POLR3DP1 RNA polymerase III subunit D pseudogene 1 pseudogene pseudogene Approved 10q22.2 10q22.2 polymerase (RNA) III (DNA directed) polypeptide D, 44kDa pseudogene 1 2013-02-15 2016-07-11 2016-07-11 100422384 ENSG00000214626 OTTHUMG00000018507 NG_025523 PGOHUM00000238845 HGNC:45107 -HGNC:30347 POLR3E RNA polymerase III subunit E protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "RPC5|SIN|FLJ10509|C37" polymerase (RNA) III (DNA directed) polypeptide E (80kD) RNA polymerase subunits 726 2004-04-22 2016-07-11 2023-01-20 55718 ENSG00000058600 OTTHUMG00000094779 uc002dkk.5 AY092085 NM_018119 "CCDS10605|CCDS58432|CCDS58434|CCDS58433|CCDS73845" Q9NVU0 "10819331|10521666" MGI:1349452 RGD:1308086 617815 HGNC:30347 "ENST00000299853.10|NM_018119.4" -HGNC:15763 POLR3F RNA polymerase III subunit F protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "RPC39|RPC6|C34" RNA polymerase III C39 subunit polymerase (RNA) III (DNA directed) polypeptide F (39 kDa) "RNA polymerase subunits|MicroRNA protein coding host genes" "726|1691" 2001-09-17 2016-07-11 2023-01-20 10621 ENSG00000132664 OTTHUMG00000031971 uc002wqv.5 U93869 NM_006466 "CCDS93016|CCDS13135|CCDS93015" Q9H1D9 9171375 MGI:1924086 RGD:1306428 617455 HGNC:15763 "ENST00000377603.5|NM_006466.4" +HGNC:30347 POLR3E RNA polymerase III subunit E protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "RPC5|SIN|FLJ10509|C37" polymerase (RNA) III (DNA directed) polypeptide E (80kD) RNA polymerase subunits 726 2004-04-22 2016-07-11 2023-01-20 55718 ENSG00000058600 OTTHUMG00000094779 uc002dkk.5 AY092085 NM_018119 "CCDS10605|CCDS73845|CCDS58433|CCDS58432|CCDS58434" Q9NVU0 "10819331|10521666" MGI:1349452 RGD:1308086 617815 HGNC:30347 "ENST00000299853.10|NM_018119.4" +HGNC:15763 POLR3F RNA polymerase III subunit F protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "RPC39|RPC6|C34" RNA polymerase III C39 subunit polymerase (RNA) III (DNA directed) polypeptide F (39 kDa) "RNA polymerase subunits|MicroRNA protein coding host genes" "726|1691" 2001-09-17 2016-07-11 2023-01-20 10621 ENSG00000132664 OTTHUMG00000031971 uc002wqv.5 U93869 NM_006466 "CCDS93015|CCDS13135|CCDS93016" Q9H1D9 9171375 MGI:1924086 RGD:1306428 617455 HGNC:15763 "ENST00000377603.5|NM_006466.4" HGNC:30075 POLR3G RNA polymerase III subunit G protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "RPC32|RPC7|C31" polymerase (RNA) III (DNA directed) polypeptide G (32kD) RNA polymerase subunits 726 2004-04-21 2016-07-11 2023-01-20 10622 ENSG00000113356 OTTHUMG00000162809 uc003kjq.3 U93868 NM_006467 CCDS43337 O15318 "9171375|12391170" MGI:1914736 RGD:1593792 617456 HGNC:30075 "ENST00000651687.1|NM_006467.3" HGNC:28466 POLR3GL RNA polymerase III subunit GL protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "flj32422|MGC3200" "polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like|RNA polymerase III subunit G like" RNA polymerase subunits 726 2005-02-02 2020-05-18 2023-01-20 84265 ENSG00000121851 OTTHUMG00000013739 uc001enp.1 BC004355 NM_032305 "CCDS72875|CCDS81367" Q9BT43 24107381 MGI:1917120 RGD:1582857 617457 HGNC:28466 "ENST00000369314.2|NM_032305.3" HGNC:23345 POLR3GP1 RNA polymerase III subunit G pseudogene 1 pseudogene pseudogene Approved 14q32.12 14q32.12 polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 1 2014-06-05 2016-07-11 2016-07-11 100422395 ENSG00000268295 OTTHUMG00000183872 NG_027301 PGOHUM00000250113 HGNC:23345 @@ -26168,7 +26171,7 @@ HGNC:39577 POLR3KP1 RNA polymerase III subunit K pseudogene 1 pseudogene pseudog HGNC:39578 POLR3KP2 RNA polymerase III subunit K pseudogene 2 pseudogene pseudogene Approved 17q25.1 17q25.1 polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 2 2011-03-15 2016-07-11 2017-10-30 390811 ENSG00000265469 OTTHUMG00000178342 NG_023353 PGOHUM00000294217 HGNC:39578 HGNC:9200 POLRMT RNA polymerase mitochondrial protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "h-mtRPOL|APOLMT|MTRNAP|MTRPOL" "polymerase (RNA) mitochondrial (DNA directed)|polymerase (RNA) mitochondrial" Pentatricopeptide repeat containing 1823 1997-07-11 2016-07-11 2023-01-20 5442 ENSG00000099821 OTTHUMG00000180611 uc002lpf.3 NM_005035 CCDS12036 O00411 9097968 MGI:1915843 RGD:1304599 601778 2.7.7.6 HGNC:9200 "ENST00000588649.7|NM_005035.4" HGNC:28865 POLRMTP1 RNA polymerase mitochondrial pseudogene 1 pseudogene pseudogene Approved 17q23.2 17q23.2 POLRMTL "polymerase (RNA) mitochondrial (DNA directed)-like|polymerase (RNA) mitochondrial (DNA directed) pseudogene 1|polymerase (RNA) mitochondrial pseudogene 1" 2005-04-11 2010-10-22 2016-07-11 2017-10-30 284167 ENSG00000266066 OTTHUMG00000179254 NG_011773 PGOHUM00000294177 HGNC:28865 -HGNC:19702 POM121 POM121 transmembrane nucleoporin protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "KIAA0618|DKFZP586G1822|DKFZP586P2220|POM121A" "POM121 membrane glycoprotein (rat)|POM121 membrane glycoprotein" Nucleoporins 1051 2002-11-13 2012-03-13 2023-01-20 9883 ENSG00000196313 OTTHUMG00000023527 uc031sxs.3 AB014518 NM_001257190 "CCDS5542|CCDS94112|CCDS59059" Q96HA1 "8335683|9734811|17900573" MGI:2137624 RGD:620680 615753 HGNC:19702 "ENST00000434423.5|NM_001387691.1" +HGNC:19702 POM121 POM121 transmembrane nucleoporin protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "KIAA0618|DKFZP586G1822|DKFZP586P2220|POM121A" "POM121 membrane glycoprotein (rat)|POM121 membrane glycoprotein" Nucleoporins 1051 2002-11-13 2012-03-13 2023-01-20 9883 ENSG00000196313 OTTHUMG00000023527 uc031sxs.3 AB014518 NM_001257190 "CCDS94112|CCDS59059|CCDS5542" Q96HA1 "8335683|9734811|17900573" MGI:2137624 RGD:620680 615753 HGNC:19702 "ENST00000434423.5|NM_001387691.1" HGNC:34004 POM121B POM121 transmembrane nucleoporin B (pseudogene) pseudogene pseudogene Approved 7q11.23 07q11.23 POM121 membrane glycoprotein B (pseudogene) 2008-02-27 2012-03-13 2020-04-20 100288540 ENSG00000205578 OTTHUMG00000156802 NG_013116.1 A6NF01 17900573 MGI:2137624 PGOHUM00000250945 HGNC:34004 HGNC:34005 POM121C POM121 transmembrane nucleoporin C protein-coding gene gene with protein product Approved 7q11.23 07q11.23 POM121 membrane glycoprotein C 2008-02-27 2012-03-13 2023-01-20 100101267 ENSG00000272391 OTTHUMG00000156238 uc032ztq.2 NM_001099415 CCDS47617 A8CG34 17900573 MGI:2137624 615754 HGNC:34005 "ENST00000615331.5|NM_001099415.3" HGNC:34005 HGNC:16439 POM121L1P POM121 transmembrane nucleoporin like 1, pseudogene pseudogene pseudogene Approved 22q11.22 22q11.22 POM121-like 2 POM121L1 "POM121 membrane glycoprotein-like 1 (rat)|POM121 membrane glycoprotein-like 1, pseudogene|POM121 transmembrane nucleoporin-like 1, pseudogene" 2002-04-30 2009-01-15 2015-11-23 2015-11-23 25812 ENSG00000183169 OTTHUMG00000151169 NR_024591 Q3SYA9 9074928 HGNC:16439 @@ -26186,27 +26189,27 @@ HGNC:42635 POM121L13P POM121 transmembrane nucleoporin like 13, pseudogene pseud HGNC:44414 POM121L14P POM121 transmembrane nucleoporin like 14, pseudogene pseudogene pseudogene Approved 6p11.2 06p11.2 POM121 transmembrane nucleoporin-like 14, pseudogene 2012-10-05 2015-11-23 2015-11-23 727805 ENSG00000218189 OTTHUMG00000014926 PGOHUM00000243651 HGNC:55894 POM121L15P POM121 transmembrane nucleoporin like 15, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 2021-09-30 2021-09-30 102725072 ENSG00000161103 NR_135922 HGNC:9201 POMC proopiomelanocortin protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "MSH|POC|CLIP|ACTH|NPP|LPH" "adrenocorticotropin|beta-lipotropin|alpha-melanocyte stimulating hormone|beta-melanocyte stimulating hormone|beta-endorphin|adrenocorticotropic hormone|opiomelanocortin prepropeptide" Neuropeptides 1902 1986-01-01 2008-07-31 2023-01-20 5443 ENSG00000115138 OTTHUMG00000094764 uc002rga.2 NM_001035256 CCDS1717 P01189 "6254047|9620771" MGI:97742 RGD:3366 176830 123421 ligandId:3633 HGNC:9201 "ENST00000395826.7|NM_000939.4" HGNC:9201 -HGNC:19139 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLJ20277|MGAT1.2|LGMD2O" protein O-mannose beta-1,2-N-acetylglucosaminyltransferase MEB "muscle-eye-brain disease|protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase" O-linked N-acetylglucosaminyltransferases 446 2005-06-02 2013-07-31 2023-01-20 55624 ENSG00000085998 OTTHUMG00000007604 uc001cpe.4 NM_017739 "CCDS90941|CCDS531|CCDS57995" Q8WZA1 "11742540|12788071" MGI:1915523 RGD:1359396 "POMGNT1 @ LOVD|http://www.LOVD.nl/POMGNT1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=POMGNT1|LRG_701|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_701.xml" 606822 117935 2.4.1.- HGNC:19139 "ENST00000371984.8|NM_017739.4" HGNC:19139 +HGNC:19139 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLJ20277|MGAT1.2|LGMD2O" protein O-mannose beta-1,2-N-acetylglucosaminyltransferase MEB "muscle-eye-brain disease|protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase" O-linked N-acetylglucosaminyltransferases 446 2005-06-02 2013-07-31 2023-01-20 55624 ENSG00000085998 OTTHUMG00000007604 uc001cpe.4 NM_017739 "CCDS531|CCDS57995|CCDS90941" Q8WZA1 "11742540|12788071" MGI:1915523 RGD:1359396 "POMGNT1 @ LOVD|http://www.LOVD.nl/POMGNT1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=POMGNT1|LRG_701|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_701.xml" 606822 117935 2.4.1.- HGNC:19139 "ENST00000371984.8|NM_017739.4" HGNC:19139 HGNC:25902 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "FLJ14566|AGO61" protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2 "C3orf39|GTDC2" "chromosome 3 open reading frame 39|glycosyltransferase-like domain containing 2" O-linked N-acetylglucosaminyltransferases 446 2006-01-06 2013-08-22 2013-08-22 2023-01-20 84892 ENSG00000144647 OTTHUMG00000133038 AK092147 NM_032806 CCDS2709 Q8NAT1 "27066570|27932460" MGI:2143424 RGD:1304827 LRG_706|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_706.xml 614828 310474 2.4.1.312 HGNC:25902 "ENST00000344697.3|NM_032806.6" HGNC:25902 HGNC:26267 POMK protein O-mannose kinase protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "FLJ23356|SgK196" 2013-08-22 2019-04-24 2023-01-20 84197 ENSG00000185900 OTTHUMG00000164100 NM_032237 CCDS6141 Q9H5K3 "16879967|23519211" MGI:1921903 RGD:1310810 615247 352646 HGNC:26267 "ENST00000331373.10|NM_032237.5" HGNC:26267 HGNC:20330 POMP proteasome maturation protein protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "HSPC014|UMP1" proteassemblin C13orf12 chromosome 13 open reading frame 12 2003-01-29 2006-07-04 2006-07-04 2023-01-20 51371 ENSG00000132963 OTTHUMG00000016652 uc001usf.4 AF077200 NM_015932 CCDS9331 Q9Y244 11042152 MGI:1913787 RGD:1305831 613386 281391 HGNC:20330 "ENST00000380842.5|NM_015932.6" HGNC:20330 HGNC:55007 POMPP1 POMP pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 101060113 ENSG00000236870 -HGNC:9202 POMT1 protein O-mannosyltransferase 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 LGMD2K dolichyl-phosphate-mannose-protein mannosyltransferase Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 1999-06-25 2016-02-09 2023-01-20 10585 ENSG00000130714 OTTHUMG00000020826 uc004cax.3 AF095136 NM_007171 "CCDS94516|CCDS43895|CCDS94519|CCDS43894|CCDS94518|CCDS94517|CCDS6943|CCDS48045" Q9Y6A1 10366449 MGI:2138994 RGD:620078 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/POMT1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=POMT1|LRG_842|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_842.xml" 607423 117939 2.4.1.109 HGNC:9202 "ENST00000402686.8|NM_001077365.2" HGNC:9202 +HGNC:9202 POMT1 protein O-mannosyltransferase 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 LGMD2K dolichyl-phosphate-mannose-protein mannosyltransferase Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 1999-06-25 2016-02-09 2023-01-20 10585 ENSG00000130714 OTTHUMG00000020826 uc004cax.3 AF095136 NM_007171 "CCDS94517|CCDS94519|CCDS6943|CCDS94516|CCDS43894|CCDS48045|CCDS43895|CCDS94518" Q9Y6A1 10366449 MGI:2138994 RGD:620078 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/POMT1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=POMT1|LRG_842|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_842.xml" 607423 117939 2.4.1.109 HGNC:9202 "ENST00000402686.8|NM_001077365.2" HGNC:9202 HGNC:19743 POMT2 protein O-mannosyltransferase 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 LGMD2N Dolichyl-phosphate-mannose--protein mannosyltransferase Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 2003-01-17 2016-02-09 2023-01-20 29954 ENSG00000009830 OTTHUMG00000171556 uc001xti.3 AF105020 NM_013382 CCDS9857 Q9UKY4 "11162531|12460945" MGI:2444430 RGD:1586427 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/POMT2|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=POMT2|LRG_844|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_844.xml" 607439 117942 2.4.1.109 HGNC:19743 "ENST00000261534.9|NM_013382.7" HGNC:19743 -HGNC:9203 POMZP3 POM121 and ZP3 fusion protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "POM-ZP3|POM121" "POM-ZP3 fusion protein|POM121/ZP3 fusion protein" "POM (POM121 rat homolog) and ZP3 fusion|POM (POM121 homolog, rat) and ZP3 fusion" 2000-03-20 2010-06-24 2023-01-20 22932 ENSG00000146707 OTTHUMG00000023514 uc003uft.4 U10099 NM_012230 "CCDS5590|CCDS43606" Q6PJE2 7789967 600587 HGNC:9203 "ENST00000310842.9|NM_012230.5" +HGNC:9203 POMZP3 POM121 and ZP3 fusion protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "POM-ZP3|POM121" "POM-ZP3 fusion protein|POM121/ZP3 fusion protein" "POM (POM121 rat homolog) and ZP3 fusion|POM (POM121 homolog, rat) and ZP3 fusion" 2000-03-20 2010-06-24 2023-01-20 22932 ENSG00000146707 OTTHUMG00000023514 uc003uft.4 U10099 NM_012230 "CCDS43606|CCDS5590" Q6PJE2 7789967 600587 HGNC:9203 "ENST00000310842.9|NM_012230.5" HGNC:9204 PON1 paraoxonase 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 ESA "esterase A|arylesterase 1" PON Paraoxonases 463 2001-06-22 2023-01-20 5444 ENSG00000005421 OTTHUMG00000153894 uc003uns.4 AF539592 NM_000446 CCDS5638 P27169 "8661009|15450851" MGI:103295 RGD:620062 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 168820 239891 objectId:3052 3.1.1.2 HGNC:9204 "ENST00000222381.8|NM_000446.7" HGNC:9204 -HGNC:9205 PON2 paraoxonase 2 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "paraoxonase nirs|arylesterase 2" Paraoxonases 463 1995-05-25 2023-01-20 5445 ENSG00000105854 OTTHUMG00000153948 uc003unv.4 "M63012|AF001601" NM_000305 "CCDS5640|CCDS47644" Q15165 "8661009|9714608" MGI:106687 RGD:1309954 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602447 239894 objectId:3053 3.1.1.2 HGNC:9205 "ENST00000222572.8|NM_000305.3" HGNC:9205 +HGNC:9205 PON2 paraoxonase 2 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "paraoxonase nirs|arylesterase 2" Paraoxonases 463 1995-05-25 2023-01-20 5445 ENSG00000105854 OTTHUMG00000153948 uc003unv.4 "M63012|AF001601" NM_000305 "CCDS47644|CCDS5640" Q15165 "8661009|9714608" MGI:106687 RGD:1309954 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602447 239894 objectId:3053 3.1.1.2 HGNC:9205 "ENST00000222572.8|NM_000305.3" HGNC:9205 HGNC:9206 PON3 paraoxonase 3 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 arylesterase 3 Paraoxonases 463 1995-05-25 2023-01-20 5446 ENSG00000105852 OTTHUMG00000153917 uc064fmn.1 "L48516|AF320003" NM_000940 CCDS5639 Q15166 8661009 MGI:106686 RGD:1302965 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602720 239896 objectId:3054 3.1.1.2 HGNC:9206 "ENST00000265627.10|NM_000940.3" HGNC:9206 HGNC:30129 POP1 POP1 homolog, ribonuclease P/MRP subunit protein-coding gene gene with protein product Approved 8q22.2 08q22.2 processing of precursors 1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 2004-03-17 2015-07-09 2023-01-20 10940 ENSG00000104356 OTTHUMG00000164635 uc003yij.5 D31765 NM_015029 CCDS6277 Q99575 "10199568|8918471" MGI:1914974 RGD:1308609 602486 265545 HGNC:30129 "ENST00000401707.7|NM_001145860.2" HGNC:30129 HGNC:30081 POP4 POP4 homolog, ribonuclease P/MRP subunit protein-coding gene gene with protein product Approved 19q12 19q12 RPP29 processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 2004-03-17 2015-07-09 2023-01-20 10775 ENSG00000105171 OTTHUMG00000182020 uc002nsf.3 BC006098 NM_006627 CCDS12416 O95707 "10352175|10024167" MGI:1913411 RGD:1305955 606114 HGNC:30081 "ENST00000585603.6|NM_006627.3" -HGNC:17689 POP5 POP5 homolog, ribonuclease P/MRP subunit protein-coding gene gene with protein product Approved 12q24.31 12q24.31 processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 2004-03-17 2015-07-09 2023-01-20 51367 ENSG00000167272 OTTHUMG00000169023 uc001tys.3 AJ306296 NM_015918 "CCDS9202|CCDS9203" Q969H6 11413139 MGI:2151221 RGD:1311819 609992 HGNC:17689 "ENST00000357500.5|NM_015918.4" +HGNC:17689 POP5 POP5 homolog, ribonuclease P/MRP subunit protein-coding gene gene with protein product Approved 12q24.31 12q24.31 processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 2004-03-17 2015-07-09 2023-01-20 51367 ENSG00000167272 OTTHUMG00000169023 uc001tys.3 AJ306296 NM_015918 "CCDS9203|CCDS9202" Q969H6 11413139 MGI:2151221 RGD:1311819 609992 HGNC:17689 "ENST00000357500.5|NM_015918.4" HGNC:19949 POP7 POP7 homolog, ribonuclease P/MRP subunit protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "RPP20|RPP2" ribonuclease P protein subunit p20 "processing of precursor 7, ribonuclease P subunit (S. cerevisiae)|processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)" 2004-03-17 2015-07-09 2023-01-20 10248 ENSG00000172336 OTTHUMG00000044311 uc003uwh.5 U94316 NM_005837 CCDS5704 O75817 9630247 MGI:1921347 RGD:1306413 606113 HGNC:19949 "ENST00000303151.5|NM_005837.3" -HGNC:17648 POPDC2 popeye domain containing 2 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 POP2 2003-05-08 2023-01-20 64091 ENSG00000121577 OTTHUMG00000159438 uc062mvg.1 AF204173 NM_022135 "CCDS93344|CCDS77797|CCDS2992" Q9HBU9 10882522 MGI:1930150 RGD:735226 605823 HGNC:17648 "ENST00000493094.6|NM_001369919.2" +HGNC:17648 POPDC2 popeye domain containing 2 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 POP2 2003-05-08 2023-01-20 64091 ENSG00000121577 OTTHUMG00000159438 uc062mvg.1 AF204173 NM_022135 "CCDS77797|CCDS93344|CCDS2992" Q9HBU9 10882522 MGI:1930150 RGD:735226 605823 HGNC:17648 "ENST00000493094.6|NM_001369919.2" HGNC:17649 POPDC3 popeye domain containing 3 protein-coding gene gene with protein product Approved 6q21 06q21 "POP3|MGC22671|bA355M14.1" 2003-05-08 2023-01-20 64208 ENSG00000132429 OTTHUMG00000015293 uc003prb.4 BC022323 NM_022361 CCDS5052 Q9HBV1 10882522 MGI:1930153 RGD:1590760 605824 HGNC:17649 "ENST00000254765.4|NM_022361.5" HGNC:17649 HGNC:9208 POR cytochrome p450 oxidoreductase protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "CYPOR|FLJ26468" NADPH--hemoprotein reductase P450 (cytochrome) oxidoreductase "MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1691|1835" 1989-06-30 2016-03-15 2023-01-20 5447 ENSG00000127948 OTTHUMG00000130413 uc003udy.4 AF258341 NM_000941 CCDS5579 P16435 2516426 MGI:97744 RGD:68335 PharmVar Pharmacogene Variation Consortium|https://www.pharmvar.org/gene/POR 124015 117944 1.6.2.4 HGNC:9208 "ENST00000461988.6|NM_001395413.1" HGNC:9208 -HGNC:17652 PORCN porcupine O-acyltransferase protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "MG61|PORC|PPN|por" DHOF "dermal hypoplasia, focal|porcupine homolog (Drosophila)" Membrane bound O-acyltransferase family 1036 2004-05-12 2017-05-16 2023-03-15 64840 ENSG00000102312 OTTHUMG00000024116 uc064yxx.1 AF317058 NM_022825 "CCDS14299|CCDS14297|CCDS14298|CCDS14296" Q9H237 "10866835|12034504|17546030|24798332" MGI:1890212 RGD:1564947 300651 159255 objectId:3145 HGNC:17652 "ENST00000326194.11|NM_203475.3" HGNC:17652 +HGNC:17652 PORCN porcupine O-acyltransferase protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "MG61|PORC|PPN|por" DHOF "dermal hypoplasia, focal|porcupine homolog (Drosophila)" Membrane bound O-acyltransferase family 1036 2004-05-12 2017-05-16 2023-03-15 64840 ENSG00000102312 OTTHUMG00000024116 uc064yxx.1 AF317058 NM_022825 "CCDS14297|CCDS14296|CCDS14298|CCDS14299" Q9H237 "10866835|12034504|17546030|24798332" MGI:1890212 RGD:1564947 300651 159255 objectId:3145 HGNC:17652 "ENST00000326194.11|NM_203475.3" HGNC:17652 HGNC:55859 PORCN-DT PORCN divergent transcript non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 Divergent transcripts 1990 2021-09-03 2021-09-03 101927635 ENSG00000224292 NR_135596 -HGNC:16953 POSTN periostin protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "OSF-2|PN|periostin" osteoblast specific factor 2 periostin, osteoblast specific factor Gla domain containing 1250 2004-02-10 2016-04-05 2023-01-20 10631 ENSG00000133110 OTTHUMG00000016751 uc001uwo.5 D13665 NM_006475 "CCDS66530|CCDS53864|CCDS9364|CCDS66531|CCDS81764|CCDS45034" Q15063 "8363580|12235007" MGI:1926321 RGD:1305285 608777 HGNC:16953 "ENST00000379747.9|NM_006475.3" +HGNC:16953 POSTN periostin protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "OSF-2|PN|periostin" osteoblast specific factor 2 periostin, osteoblast specific factor Gla domain containing 1250 2004-02-10 2016-04-05 2023-01-20 10631 ENSG00000133110 OTTHUMG00000016751 uc001uwo.5 D13665 NM_006475 "CCDS45034|CCDS66531|CCDS81764|CCDS9364|CCDS66530|CCDS53864" Q15063 "8363580|12235007" MGI:1926321 RGD:1305285 608777 HGNC:16953 "ENST00000379747.9|NM_006475.3" HGNC:17284 POT1 protection of telomeres 1 protein-coding gene gene with protein product Approved 7q31.33 07q31.33 "hPot1|DKFZp586D211" protection of telomeres 1 homolog (S. pombe) Shelterin complex 1334 2004-08-20 2013-01-21 2023-03-15 25913 ENSG00000128513 OTTHUMG00000157194 uc003vlm.4 AK022580 NM_001042594 CCDS5793 Q9NUX5 "11349150|12391173" MGI:2141503 RGD:1562696 POT1 606478 353330 HGNC:17284 "ENST00000357628.8|NM_015450.3" HGNC:49459 POT1-AS1 POT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.33 07q31.33 Antisense RNAs 1987 2013-12-05 2021-09-01 401398 ENSG00000224897 OTTHUMG00000157170 BX648695 NR_125718 POT1-AS1 HGNC:49459 HGNC:33893 POTEA POTE ankyrin domain family member A protein-coding gene gene with protein product Approved 8p11.1 08p11.1 "POTE8|POTE-8|CT104.3" cancer/testis antigen family 104, member 3 A26A1 "ANKRD26-like family A, member 1|POTE ankyrin domain family, member A" POTE ankyrin domain containing 685 2007-11-21 2008-11-26 2015-11-18 2023-03-15 340441 ENSG00000188877 OTTHUMG00000164111 AY462869 NM_001002920 Q6S8J7 "29547645|29698858" "MGI:1914825|MGI:1918231|MGI:3644757" 608915 HGNC:33893 @@ -26228,10 +26231,10 @@ HGNC:37096 POTEM POTE ankyrin domain family member M protein-coding gene gene wi HGNC:9210 POU1F1 POU class 1 homeobox 1 protein-coding gene gene with protein product Approved 3p11.2 03p11.2 "GHF-1|POU1F1a|PIT-1" "growth hormone factor 1|pituitary transcript factor 1" PIT1 POU domain class 1, transcription factor 1 POU class homeoboxes and pseudogenes 523 1993-01-12 2007-07-13 2023-01-20 5449 ENSG00000064835 OTTHUMG00000158992 uc003dqq.2 D10216 NM_000306 "CCDS46873|CCDS2919" P28069 1956794 MGI:97588 RGD:3367 173110 8494 117948 HGNC:9210 "ENST00000350375.7|NM_000306.4" HGNC:9210 HGNC:9211 POU2AF1 POU class 2 homeobox associating factor 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "OBF1|BOB1|OCA-B" OCT-binding factor 1 "POU domain class 2, associating factor 1|POU class 2 associating factor 1" 1995-11-08 2019-03-21 2023-01-20 5450 ENSG00000110777 OTTHUMG00000166659 uc001plg.5 NM_006235 CCDS31675 Q16633 "8617501|7623806" MGI:105086 RGD:1594728 POU2AF1 601206 317410 HGNC:9211 "ENST00000393067.8|NM_006235.3" HGNC:9211 HGNC:30527 POU2AF2 POU class 2 homeobox associating factor 2 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "MGC50104|OCA-T1" C11orf53 chromosome 11 open reading frame 53 2006-02-06 2022-03-14 2022-03-14 2023-01-20 341032 ENSG00000150750 OTTHUMG00000166656 uc001plc.4 BC039669 NM_198498 CCDS31674 Q8IXP5 "25048349|35576971|36197978" MGI:1917059 RGD:1562914 HGNC:30527 "ENST00000280325.7|NM_198498.3" -HGNC:26978 POU2AF3 POU class 2 homeobox associating factor 3 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "CASC13|OCA-T2" cancer susceptibility candidate 13 "C11orf93|COLCA2" "chromosome 11 open reading frame 93|colorectal cancer associated 2" 2009-09-30 2022-06-06 2022-06-06 2023-01-20 120376 ENSG00000214290 OTTHUMG00000166657 BC042557 NM_001136105 "CCDS44728|CCDS73378" A8K830 "21071539|35576971" MGI:2685530 RGD:1563866 615694 HGNC:26978 "ENST00000610738.6|NM_001271458.2" -HGNC:9212 POU2F1 POU class 2 homeobox 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 OCT1 OTF1 POU domain class 2, transcription factor 1 POU class homeoboxes and pseudogenes 523 1989-03-09 2007-07-13 2023-01-20 5451 ENSG00000143190 OTTHUMG00000034436 uc001gee.3 BC001664 NM_002697 "CCDS1259|CCDS55655|CCDS55656" P14859 1887216 MGI:101898 RGD:621689 164175 8547 HGNC:9212 "ENST00000367866.7|NM_002697.4" -HGNC:55222 POU2F1-DT POU2F1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q24.2 01q24.2 Divergent transcripts 1990 2020-09-11 2020-09-11 118568815 ENSG00000272205 -HGNC:9213 POU2F2 POU class 2 homeobox 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 OCT2 octamer-binding transcription factor 2 OTF2 POU domain class 2, transcription factor 2 "POU class homeoboxes and pseudogenes|MicroRNA protein coding host genes" "523|1691" 1989-03-08 2007-07-13 2023-01-20 5452 ENSG00000028277 OTTHUMG00000165991 uc002osn.4 NM_001207025 "CCDS33035|CCDS92631|CCDS56095|CCDS58665|CCDS56094|CCDS92629" P09086 MGI:101897 RGD:621690 164176 8495 HGNC:9213 "ENST00000692977.1|NM_001394376.1" +HGNC:26978 POU2AF3 POU class 2 homeobox associating factor 3 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "CASC13|OCA-T2" cancer susceptibility candidate 13 "C11orf93|COLCA2" "chromosome 11 open reading frame 93|colorectal cancer associated 2" 2009-09-30 2022-06-06 2022-06-06 2023-01-20 120376 ENSG00000214290 OTTHUMG00000166657 BC042557 NM_001136105 "CCDS73378|CCDS44728" A8K830 "21071539|35576971" MGI:2685530 RGD:1563866 615694 HGNC:26978 "ENST00000610738.6|NM_001271458.2" +HGNC:9212 POU2F1 POU class 2 homeobox 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 OCT1 OTF1 POU domain class 2, transcription factor 1 POU class homeoboxes and pseudogenes 523 1989-03-09 2007-07-13 2023-01-20 5451 ENSG00000143190 OTTHUMG00000034436 uc001gee.3 BC001664 NM_002697 "CCDS55655|CCDS55656|CCDS1259" P14859 1887216 MGI:101898 RGD:621689 164175 8547 HGNC:9212 "ENST00000367866.7|NM_002697.4" +HGNC:55222 POU2F1-DT POU2F1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q24.2 01q24.2 Divergent transcripts 1990 2020-09-11 2020-09-11 118568815 ENSG00000272205 NR_185889 +HGNC:9213 POU2F2 POU class 2 homeobox 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 OCT2 octamer-binding transcription factor 2 OTF2 POU domain class 2, transcription factor 2 "POU class homeoboxes and pseudogenes|MicroRNA protein coding host genes" "523|1691" 1989-03-08 2007-07-13 2023-01-20 5452 ENSG00000028277 OTTHUMG00000165991 uc002osn.4 NM_001207025 "CCDS56095|CCDS58665|CCDS56094|CCDS33035|CCDS92631|CCDS92629" P09086 MGI:101897 RGD:621690 164176 8495 HGNC:9213 "ENST00000692977.1|NM_001394376.1" HGNC:56644 POU2F2-AS2 POU2F2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 Antisense RNAs 1987 2022-11-16 2022-11-16 128071540 ENSG00000259436 MGI:3687343 HGNC:19864 POU2F3 POU class 2 homeobox 3 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "OCT11|PLA-1|Skn-1a|Epoc-1" POU domain class 2, transcription factor 3 POU class homeoboxes and pseudogenes 523 2002-11-28 2007-07-13 2023-01-20 25833 ENSG00000137709 OTTHUMG00000166140 uc001pxc.4 AF133895 NM_001244682 "CCDS58190|CCDS8431" Q9UKI9 10473598 MGI:102565 RGD:621691 607394 8496 HGNC:19864 "ENST00000543440.7|NM_014352.4" HGNC:9214 POU3F1 POU class 3 homeobox 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "OCT6|SCIP" OTF6 POU domain class 3, transcription factor 1 POU class homeoboxes and pseudogenes 523 1994-06-03 2007-07-13 2023-01-20 5453 ENSG00000185668 OTTHUMG00000000485 uc001ccp.2 L26494 NM_002699 CCDS30679 Q03052 8451175 MGI:101896 RGD:619767 602479 8497 HGNC:9214 "ENST00000373012.5|NM_002699.4" @@ -26241,7 +26244,7 @@ HGNC:9217 POU3F4 POU class 3 homeobox 4 protein-coding gene gene with protein pr HGNC:9218 POU4F1 POU class 4 homeobox 1 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 RDC-1 BRN3A POU domain class 4, transcription factor 1 POU class homeoboxes and pseudogenes 523 1993-10-21 2007-07-13 2023-01-20 5457 ENSG00000152192 OTTHUMG00000017119 uc001vkv.4 X64624 NM_006237 CCDS31996 Q01851 1357630 MGI:102525 RGD:620074 601632 8501 HGNC:9218 "ENST00000377208.7|NM_006237.4" HGNC:9219 POU4F2 POU class 4 homeobox 2 protein-coding gene gene with protein product Approved 4q31.22 04q31.22 Brn-3b BRN3B "POU domain, class 4, transcription factor 2|POU domain class 4, transcription factor 2" POU class homeoboxes and pseudogenes 523 1993-10-21 2007-07-13 2023-01-20 5458 ENSG00000151615 OTTHUMG00000162045 uc003ikv.4 U06233 NM_004575 CCDS34074 Q12837 8332509 MGI:102524 RGD:620075 113725 8548 HGNC:9219 "ENST00000281321.3|NM_004575.3" HGNC:9220 POU4F3 POU class 4 homeobox 3 protein-coding gene gene with protein product Approved 5q32 05q32 BRN3C "DFNA15|DFNA52|DFNA42" "POU domain class 4, transcription factor 3|deafness, autosomal dominant 52|deafness, autosomal dominant 42" POU class homeoboxes and pseudogenes 523 1998-01-07 2007-07-13 2023-01-20 5459 ENSG00000091010 OTTHUMG00000129684 uc003loa.2 U10060 NM_002700 CCDS4281 Q15319 "9506947|27535032" MGI:102523 RGD:1310459 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|LRG_1355|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1355.xml" 602460 8502 117957 HGNC:9220 "ENST00000646991.2|NM_002700.3" HGNC:9220 -HGNC:9221 POU5F1 POU class 5 homeobox 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "OCT3|Oct4|MGC22487|OCT-4|Oct3/4" OTF3 POU domain class 5, transcription factor 1 POU class homeoboxes and pseudogenes 523 1992-11-05 2007-07-13 2023-01-20 5460 ENSG00000204531 OTTHUMG00000031206 uc003nsv.4 Z11898 NM_002701 "CCDS75420|CCDS47398|CCDS34391" Q01860 1408763 MGI:101893 RGD:1359491 POU5F1 164177 8634 HGNC:9221 "ENST00000259915.13|NM_002701.6" +HGNC:9221 POU5F1 POU class 5 homeobox 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "OCT3|Oct4|MGC22487|OCT-4|Oct3/4" OTF3 POU domain class 5, transcription factor 1 POU class homeoboxes and pseudogenes 523 1992-11-05 2007-07-13 2023-01-20 5460 ENSG00000204531 OTTHUMG00000031206 uc003nsv.4 Z11898 NM_002701 "CCDS75420|CCDS34391|CCDS47398" Q01860 1408763 MGI:101893 RGD:1359491 POU5F1 164177 8634 HGNC:9221 "ENST00000259915.13|NM_002701.6" HGNC:9223 POU5F1B POU class 5 homeobox 1B protein-coding gene gene with protein product Approved 8q24.21 08q24.21 OTF3C "OTF3P1|POU5F1P1" "POU domain class 5, transcription factor 1 pseudogene 1|POU class 5 homeobox 1 pseudogene 1" POU class homeoboxes and pseudogenes 523 1992-11-05 2009-04-15 2009-04-15 2023-01-20 5462 ENSG00000212993 OTTHUMG00000157807 uc003ysf.4 AF268615 NM_001159542 CCDS55274 Q06416 1408763 MGI:101893 615739 8397 HGNC:9223 "ENST00000696633.1|NM_001159542.3" HGNC:33309 POU5F1P2 POU class 5 homeobox 1 pseudogene 2 pseudogene pseudogene Approved 8q22.3 08q22.3 POU domain class 5, transcription factor 1 pseudogene 2 POU class homeoboxes and pseudogenes 523 2007-02-07 2007-07-13 2020-04-20 100129512 ENSG00000253382 OTTHUMG00000164734 NG_006103 8561 PGOHUM00000303338 HGNC:33309 HGNC:9222 POU5F1P3 POU class 5 homeobox 1 pseudogene 3 pseudogene pseudogene Approved 12p13.31 12p13.31 POU5FLC12 "OTF3L|POU5F1L" "POU domain, class 5, transcription factor 1-like|POU domain class 5, transcription factor 1 pseudogene 3" POU class homeoboxes and pseudogenes 523 1993-01-15 2007-02-07 2007-07-13 2015-02-09 642559 ENSG00000235602 OTTHUMG00000168634 AF268617 NR_036440 8500351 8562 PGOHUM00000291204 HGNC:9222 @@ -26257,39 +26260,39 @@ HGNC:21887 POU6F2-AS2 POU6F2 antisense RNA 2 non-coding RNA RNA, long non-coding HGNC:28884 PP1P pyrophosphatase (inorganic) 1 pseudogene pseudogene pseudogene Approved 3p24.3 03p24.3 2005-01-26 2022-10-18 151842 ENSG00000213383 NG_002639 HGNC:28884 HGNC:28406 PP2D1 protein phosphatase 2C like domain containing 1 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 FLJ25449 C3orf48 "chromosome 3 open reading frame 48|protein phosphatase 2C-like domain containing 1" 2006-01-16 2011-06-24 2016-01-27 2023-01-20 151649 ENSG00000183977 OTTHUMG00000155393 uc021wtw.2 AK058178 NM_144714 CCDS58817 A8MPX8 12477932 MGI:3612067 RGD:1564811 HGNC:28406 "ENST00000389050.5|NM_001252657.2" HGNC:9226 PPA1 inorganic pyrophosphatase 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "SID6-8061|Ppase|IOPPP|PP1" "cytosolic inorganic pyrophosphatase|inorganic pyrophosphatase 1|pyrophosphate phospho-hydrolase|inorganic diphosphatase 1" PP "pyrophosphatase (inorganic)|pyrophosphatase (inorganic) 1" 2001-06-22 2005-10-07 2019-07-04 2023-01-20 5464 ENSG00000180817 OTTHUMG00000018399 uc001jqv.2 AF154065 NM_021129 CCDS7299 Q15181 "10542310|975879" MGI:97831 RGD:1589773 179030 3.6.1.1 HGNC:9226 "ENST00000373232.8|NM_021129.4" -HGNC:28883 PPA2 inorganic pyrophosphatase 2 protein-coding gene gene with protein product Approved 4q24 04q24 FLJ20459 pyrophosphatase (inorganic) 2 2005-10-07 2019-07-04 2023-03-15 27068 ENSG00000138777 OTTHUMG00000128781 uc003hxl.4 NM_176869 "CCDS3668|CCDS34043|CCDS3667|CCDS3669" Q9H2U2 11042152 MGI:1922026 RGD:1307965 609988 3.6.1.1 HGNC:28883 "ENST00000341695.10|NM_176869.3" HGNC:28883 -HGNC:9227 PPAN peter pan homolog protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "SSF1|SSF2|SSF|BXDC3" "peter pan (Drosophila) homolog|peter pan homolog (Drosophila)" Small nucleolar RNA protein coding host genes 1835 2000-08-01 2018-08-02 2023-01-20 56342 ENSG00000130810 OTTHUMG00000156826 uc002mmz.3 BC033202 NM_020230 "CCDS12225|CCDS86698" Q9NQ55 10873382 MGI:2178445 RGD:1306325 607793 HGNC:9227 "ENST00000253107.12|NM_020230.7" +HGNC:28883 PPA2 inorganic pyrophosphatase 2 protein-coding gene gene with protein product Approved 4q24 04q24 FLJ20459 pyrophosphatase (inorganic) 2 2005-10-07 2019-07-04 2023-03-15 27068 ENSG00000138777 OTTHUMG00000128781 uc003hxl.4 NM_176869 "CCDS3667|CCDS3669|CCDS3668|CCDS34043" Q9H2U2 11042152 MGI:1922026 RGD:1307965 609988 3.6.1.1 HGNC:28883 "ENST00000341695.10|NM_176869.3" HGNC:28883 +HGNC:9227 PPAN peter pan homolog protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "SSF1|SSF2|SSF|BXDC3" "peter pan (Drosophila) homolog|peter pan homolog (Drosophila)" Small nucleolar RNA protein coding host genes 1835 2000-08-01 2018-08-02 2023-01-20 56342 ENSG00000130810 OTTHUMG00000156826 uc002mmz.3 BC033202 NM_020230 "CCDS86698|CCDS12225" Q9NQ55 10873382 MGI:2178445 RGD:1306325 607793 HGNC:9227 "ENST00000253107.12|NM_020230.7" HGNC:33526 PPAN-P2RY11 PPAN-P2RY11 readthrough other readthrough Approved 19p13.2 19p13.2 2007-07-31 2023-03-15 692312 ENSG00000243207 OTTHUMG00000150165 uc002mna.4 AJ300588 NM_001040664 MGI:2178445 HGNC:33526 HGNC:9232 PPARA peroxisome proliferator activated receptor alpha protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "hPPAR|NR1C1" PPAR "peroxisome proliferative activated receptor, alpha|peroxisome proliferator-activated receptor alpha" Peroxisome proliferator activated receptors 2071 1993-11-01 2016-01-27 2023-01-20 5465 ENSG00000186951 OTTHUMG00000150443 uc003bgx.1 L02932 NM_001001928 CCDS33669 Q07869 "7684926|10591208" MGI:104740 RGD:3369 170998 objectId:593 HGNC:9232 "ENST00000407236.6|NM_005036.6" -HGNC:9235 PPARD peroxisome proliferator activated receptor delta protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "NUC1|NUCII|FAAR|NR1C2|PPARB" peroxisome proliferator activated receptor beta "peroxisome proliferative activated receptor, delta|peroxisome proliferator-activated receptor delta" Peroxisome proliferator activated receptors 2071 1996-03-12 2016-01-27 2023-01-20 5467 ENSG00000112033 OTTHUMG00000014567 uc003okm.3 L07592 NM_006238 "CCDS54995|CCDS54994|CCDS4804|CCDS4803" Q03181 1333051 MGI:101884 RGD:3370 600409 objectId:594 HGNC:9235 "ENST00000360694.8|NM_006238.5" -HGNC:9236 PPARG peroxisome proliferator activated receptor gamma protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "PPARG1|PPARG2|NR1C3|PPARgamma" "peroxisome proliferative activated receptor, gamma|peroxisome proliferator-activated receptor gamma" Peroxisome proliferator activated receptors 2071 1996-03-12 2016-01-27 2023-01-20 5468 ENSG00000132170 OTTHUMG00000129764 uc003bwx.4 X90563 NM_005037 "CCDS93212|CCDS2610|CCDS2609|CCDS87046" P37231 "7862171|9750197" MGI:97747 RGD:3371 PPARG 601487 117964 objectId:595 HGNC:9236 "ENST00000651735.1|NM_138711.6" HGNC:9236 -HGNC:9237 PPARGC1A PPARG coactivator 1 alpha protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "PGC1|PGC1A|PGC-1alpha|PPARAGCIα" PPARgamma coactivator 1alpha PPARGC1 "peroxisome proliferative activated receptor, gamma, coactivator 1|peroxisome proliferative activated receptor, gamma, coactivator 1, alpha|peroxisome proliferator-activated receptor gamma, coactivator 1 alpha" RNA binding motif containing 725 1999-08-02 2004-02-04 2016-01-27 2023-01-20 10891 ENSG00000109819 OTTHUMG00000097747 uc003gqs.3 AF106698 NM_013261 "CCDS87211|CCDS3429|CCDS87212" Q9UBK2 10585775 MGI:1342774 RGD:620925 604517 363670 HGNC:9237 "ENST00000264867.7|NM_013261.5" -HGNC:30022 PPARGC1B PPARG coactivator 1 beta protein-coding gene gene with protein product Approved 5q32 05q32 "PERC|PGC1B|PPARAGCIβ" PPARgamma coactivator 1 beta "peroxisome proliferative activated receptor, gamma, coactivator 1, beta|peroxisome proliferator-activated receptor gamma, coactivator 1 beta" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2004-02-03 2016-01-27 2023-01-20 133522 ENSG00000155846 OTTHUMG00000130055 uc003lrc.4 AF468496 NM_133263 "CCDS54933|CCDS4298|CCDS54934" Q86YN6 "11793024|11854298" MGI:2444934 RGD:727948 608886 HGNC:30022 "ENST00000309241.10|NM_133263.4" +HGNC:9235 PPARD peroxisome proliferator activated receptor delta protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "NUC1|NUCII|FAAR|NR1C2|PPARB" peroxisome proliferator activated receptor beta "peroxisome proliferative activated receptor, delta|peroxisome proliferator-activated receptor delta" Peroxisome proliferator activated receptors 2071 1996-03-12 2016-01-27 2023-01-20 5467 ENSG00000112033 OTTHUMG00000014567 uc003okm.3 L07592 NM_006238 "CCDS4803|CCDS54994|CCDS54995|CCDS4804" Q03181 1333051 MGI:101884 RGD:3370 600409 objectId:594 HGNC:9235 "ENST00000360694.8|NM_006238.5" +HGNC:9236 PPARG peroxisome proliferator activated receptor gamma protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "PPARG1|PPARG2|NR1C3|PPARgamma" "peroxisome proliferative activated receptor, gamma|peroxisome proliferator-activated receptor gamma" Peroxisome proliferator activated receptors 2071 1996-03-12 2016-01-27 2023-01-20 5468 ENSG00000132170 OTTHUMG00000129764 uc003bwx.4 X90563 NM_005037 "CCDS93212|CCDS2609|CCDS2610|CCDS87046" P37231 "7862171|9750197" MGI:97747 RGD:3371 PPARG 601487 117964 objectId:595 HGNC:9236 "ENST00000651735.1|NM_138711.6" HGNC:9236 +HGNC:9237 PPARGC1A PPARG coactivator 1 alpha protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "PGC1|PGC1A|PGC-1alpha|PPARAGCIα" PPARgamma coactivator 1alpha PPARGC1 "peroxisome proliferative activated receptor, gamma, coactivator 1|peroxisome proliferative activated receptor, gamma, coactivator 1, alpha|peroxisome proliferator-activated receptor gamma, coactivator 1 alpha" RNA binding motif containing 725 1999-08-02 2004-02-04 2016-01-27 2023-01-20 10891 ENSG00000109819 OTTHUMG00000097747 uc003gqs.3 AF106698 NM_013261 "CCDS87212|CCDS3429|CCDS87211" Q9UBK2 10585775 MGI:1342774 RGD:620925 604517 363670 HGNC:9237 "ENST00000264867.7|NM_013261.5" +HGNC:30022 PPARGC1B PPARG coactivator 1 beta protein-coding gene gene with protein product Approved 5q32 05q32 "PERC|PGC1B|PPARAGCIβ" PPARgamma coactivator 1 beta "peroxisome proliferative activated receptor, gamma, coactivator 1, beta|peroxisome proliferator-activated receptor gamma, coactivator 1 beta" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2004-02-03 2016-01-27 2023-01-20 133522 ENSG00000155846 OTTHUMG00000130055 uc003lrc.4 AF468496 NM_133263 "CCDS54934|CCDS4298|CCDS54933" Q86YN6 "11793024|11854298" MGI:2444934 RGD:727948 608886 HGNC:30022 "ENST00000309241.10|NM_133263.4" HGNC:9238 PPAT phosphoribosyl pyrophosphate amidotransferase protein-coding gene gene with protein product Approved 4q12 04q12 "GPAT|PRAT" Purinosome 1569 2001-06-22 2023-01-20 5471 ENSG00000128059 OTTHUMG00000128842 uc003hbr.4 NM_002703 CCDS3505 Q06203 MGI:2387203 RGD:620237 172450 C44.001 objectId:2761 2.4.2.14 HGNC:9238 "ENST00000264220.6|NM_002703.5" HGNC:9239 PPATP1 phosphoribosyl pyrophosphate amidotransferase pseudogene 1 pseudogene pseudogene Approved 3p12.1 03p12.1 1995-11-02 2020-04-20 100289640 ENSG00000241293 OTTHUMG00000158985 NG_022210 8106516 PGOHUM00000237672 HGNC:9239 HGNC:48738 PPATP2 phosphoribosyl pyrophosphate amidotransferase pseudogene 2 pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-06-07 2016-11-09 100421601 ENSG00000271433 OTTHUMG00000185044 NG_026724 PGOHUM00000304720 HGNC:48738 HGNC:9240 PPBP pro-platelet basic protein protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB7|TGB|NAP-2-L1|LA-PF4|MDGF|LDGF|Beta-TG|CTAP3|CXCL7|PBP|b-TG1|TGB1|CTAPIII|NAP-2" "platelet basic protein|beta-thromboglobulin|connective tissue-activating peptide III|neutrophil-activating peptide-2|chemokine (C-X-C motif) ligand 7" THBGB1 Receptor ligands 542 1991-05-21 2015-11-13 2023-01-20 5473 ENSG00000163736 OTTHUMG00000130008 uc003hhj.4 M54995 NM_002704 CCDS3563 P02775 1826003 MGI:1888712 RGD:70548 121010 ligandId:830 HGNC:9240 "ENST00000296028.4|NM_002704.3" HGNC:9241 PPBPP1 pro-platelet basic protein pseudogene 1 pseudogene pseudogene Approved 4q13.3 04q13.3 TGB2 PPBPL1 pro-platelet basic protein-like 1 1991-10-21 2012-04-20 2012-04-20 2023-03-15 728045 ENSG00000250550 OTTHUMG00000160814 NG_016721 1316786 188035 HGNC:9241 HGNC:16981 PPBPP2 pro-platelet basic protein pseudogene 2 pseudogene pseudogene Approved 4q13.3 04q13.3 SPBPBP PPBPL2 pro-platelet basic protein-like 2 2004-07-02 2012-04-20 2012-04-20 2014-11-19 10895 ENSG00000248848 OTTHUMG00000160862 L10403 NR_026769 7887923 611591 PGOHUM00000245591 HGNC:16981 -HGNC:28107 PPCDC phosphopantothenoylcysteine decarboxylase protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "MDS018|FLJ14585" 2005-07-25 2023-01-20 60490 ENSG00000138621 OTTHUMG00000142824 uc002azo.4 AK027491 NM_021823 "CCDS73761|CCDS76781|CCDS10275|CCDS73759|CCDS73760" Q96CD2 "12975309|11923312" MGI:1914062 RGD:1306267 609854 4.1.1.36 HGNC:28107 "ENST00000342932.8|NM_021823.5" -HGNC:25686 PPCS phosphopantothenoylcysteine synthetase protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ11838 2005-07-25 2023-01-20 79717 ENSG00000127125 OTTHUMG00000007332 uc001chl.5 AK021900 NM_024664 "CCDS41311|CCDS41312" Q9HAB8 11923312 MGI:1915237 RGD:1311399 609853 6.3.2.5 HGNC:25686 "ENST00000372561.4|NM_024664.4" HGNC:25686 +HGNC:28107 PPCDC phosphopantothenoylcysteine decarboxylase protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "MDS018|FLJ14585" 2005-07-25 2023-01-20 60490 ENSG00000138621 OTTHUMG00000142824 uc002azo.4 AK027491 NM_021823 "CCDS76781|CCDS73759|CCDS73761|CCDS73760|CCDS10275" Q96CD2 "12975309|11923312" MGI:1914062 RGD:1306267 609854 4.1.1.36 HGNC:28107 "ENST00000342932.8|NM_021823.5" +HGNC:25686 PPCS phosphopantothenoylcysteine synthetase protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ11838 2005-07-25 2023-01-20 79717 ENSG00000127125 OTTHUMG00000007332 uc001chl.5 AK021900 NM_024664 "CCDS41312|CCDS41311" Q9HAB8 11923312 MGI:1915237 RGD:1311399 609853 6.3.2.5 HGNC:25686 "ENST00000372561.4|NM_024664.4" HGNC:25686 HGNC:16142 PPDPF pancreatic progenitor cell differentiation and proliferation factor protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "dJ697K14.9|exdpf" exocrine differentiation and proliferation factor C20orf149 "chromosome 20 open reading frame 149|pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish)" 2001-07-17 2009-06-04 2013-07-23 2023-01-20 79144 ENSG00000125534 OTTHUMG00000032978 uc002yff.4 AL121829 NM_001353423 CCDS13523 Q9H3Y8 MGI:1913746 RGD:1310660 HGNC:16142 "ENST00000370179.8|NM_024299.4" HGNC:31745 PPDPFL pancreatic progenitor cell differentiation and proliferation factor like protein-coding gene gene with protein product Approved 8q11.21 08q11.21 C8orf22 chromosome 8 open reading frame 22 2004-07-05 2017-07-28 2017-07-28 2023-01-20 492307 ENSG00000168333 OTTHUMG00000164217 uc003xqq.6 BC017981 NM_001007176 "CCDS59102|CCDS59101|CCDS47854" Q8WWR9 HGNC:31745 "ENST00000522267.6|NM_001256597.2" HGNC:56491 PPDPFP1 PPDPF pseudogene 1 pseudogene pseudogene Approved 3q13.33 03q13.33 2022-10-20 2022-10-20 127379739 ENSG00000242613 PGOHUM00000299547 HGNC:56492 PPDPFP2 PPDPF pseudogene 2 pseudogene pseudogene Approved 12q24.31 12q24.31 2022-10-20 2022-10-20 127379756 ENSG00000256963 PGOHUM00000291824 -HGNC:9243 PPEF1 protein phosphatase with EF-hand domain 1 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 PPP7CA protein phosphatase 7, catalytic subunit, alpha isozyme PPEF protein phosphatase, EF-hand calcium binding domain 1 "Protein phosphatase catalytic subunits|EF-hand domain containing" "693|863" 1997-01-09 2016-02-26 2023-03-15 5475 ENSG00000086717 OTTHUMG00000021219 uc004cyq.4 BC036026 NM_006240 "CCDS94563|CCDS43920|CCDS14188" O14829 "9215685|9326663" MGI:1097157 RGD:1562772 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PPEF1 300109 HGNC:9243 "ENST00000470157.2|NM_001377996.1" +HGNC:9243 PPEF1 protein phosphatase with EF-hand domain 1 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 PPP7CA protein phosphatase 7, catalytic subunit, alpha isozyme PPEF protein phosphatase, EF-hand calcium binding domain 1 "Protein phosphatase catalytic subunits|EF-hand domain containing" "693|863" 1997-01-09 2016-02-26 2023-03-15 5475 ENSG00000086717 OTTHUMG00000021219 uc004cyq.4 BC036026 NM_006240 "CCDS43920|CCDS94563|CCDS14188" O14829 "9215685|9326663" MGI:1097157 RGD:1562772 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PPEF1 300109 HGNC:9243 "ENST00000470157.2|NM_001377996.1" HGNC:40463 PPEF1-AS1 PPEF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.13 Xp22.13 PPEF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874004 ENSG00000237221 OTTHUMG00000021217 uc064yfm.1 NR_046642 PPEF1-AS1 HGNC:40463 HGNC:9244 PPEF2 protein phosphatase with EF-hand domain 2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 PPP7CB protein phosphatase 7, catalytic subunit, beta isozyme protein phosphatase, EF-hand calcium binding domain 2 "Protein phosphatase catalytic subunits|EF-hand domain containing" "693|863" 1997-11-05 2016-02-26 2023-01-20 5470 ENSG00000156194 OTTHUMG00000160915 uc003hix.4 AF023456 NM_006239 CCDS34013 O14830 "9326663|12051765" MGI:1342304 RGD:1307093 602256 HGNC:9244 "ENST00000286719.12|NM_006239.3" HGNC:9245 PPFIA1 PTPRF interacting protein alpha 1 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "LIP.1|LIPRIN" Liprin-alpha1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 "Sterile alpha motif domain containing|MicroRNA protein coding host genes" "760|1691" 1998-10-23 2016-02-10 2023-01-20 8500 ENSG00000131626 OTTHUMG00000167266 uc001opo.4 U22816 NM_003626 "CCDS31627|CCDS31628" Q13136 "7796809|9624153" MGI:1924750 RGD:1309009 611054 HGNC:9245 "ENST00000253925.12|NM_003626.5" HGNC:54792 PPFIA1P1 PPFIA1 pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 2020-01-08 2020-01-08 100422710 ENSG00000271639 NG_023767 -HGNC:9246 PPFIA2 PTPRF interacting protein alpha 2 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 Liprin-alpha2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2023-01-20 8499 ENSG00000139220 OTTHUMG00000170181 uc058rji.1 AF034799 NM_001220473 "CCDS73503|CCDS59236|CCDS55854|CCDS55851|CCDS55850|CCDS55857|CCDS55853|CCDS55856|CCDS55855|CCDS55852" O75334 9624153 MGI:2443834 RGD:1305021 603143 HGNC:9246 "ENST00000549396.6|NM_003625.5" +HGNC:9246 PPFIA2 PTPRF interacting protein alpha 2 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 Liprin-alpha2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2023-01-20 8499 ENSG00000139220 OTTHUMG00000170181 uc058rji.1 AF034799 NM_001220473 "CCDS55855|CCDS55853|CCDS55854|CCDS55857|CCDS55851|CCDS55856|CCDS55850|CCDS73503|CCDS59236|CCDS55852" O75334 9624153 MGI:2443834 RGD:1305021 603143 HGNC:9246 "ENST00000549396.6|NM_003625.5" HGNC:53397 PPFIA2-AS1 PPFIA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.31 12q21.31 Antisense RNAs 1987 2017-03-28 2017-03-28 102724663 ENSG00000257467 OTTHUMG00000170246 NR_120491 HGNC:53397 HGNC:9247 PPFIA3 PTPRF interacting protein alpha 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "KIAA0654|LPNA3|MGC126567|MGC126569" "protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3|liprin-alpha 3|liprin" protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2023-01-20 8541 ENSG00000177380 OTTHUMG00000183213 uc002pmr.5 AF034800 NM_003660 CCDS12758 O75145 "9624153|9734811" MGI:1924037 RGD:620054 603144 HGNC:9247 "ENST00000334186.9|NM_003660.4" HGNC:9248 PPFIA4 PTPRF interacting protein alpha 4 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 Liprin-alpha4 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2023-03-15 8497 ENSG00000143847 OTTHUMG00000042123 uc057ono.1 AF034801 NM_015053 CCDS91145 O75335 9624153 MGI:1915757 RGD:620055 603145 HGNC:9248 "ENST00000295706.9|NM_001304331.2" -HGNC:9249 PPFIBP1 PPFIA binding protein 1 protein-coding gene gene with protein product Approved 12p11.23-p11.22 12p11.23-p11.22 "L2|hSGT2|hSgt2p|SGT2" liprin beta 1 PTPRF interacting protein, binding protein 1 (liprin beta 1) Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2023-01-20 8496 ENSG00000110841 OTTHUMG00000169207 uc001rib.3 AF034802 NM_177444 "CCDS8713|CCDS55812|CCDS55814|CCDS55813" Q86W92 "9624153|11836260" MGI:1914783 RGD:1310010 PPFIBP1 603141 HGNC:9249 "ENST00000228425.11|NM_003622.4" -HGNC:9250 PPFIBP2 PPFIA binding protein 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Cclp1 liprin beta 2 PTPRF interacting protein, binding protein 2 (liprin beta 2) Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2023-01-20 8495 ENSG00000166387 OTTHUMG00000165617 uc001mfj.6 AF034803 NM_003621 "CCDS91429|CCDS58116|CCDS31419|CCDS58117" Q8ND30 9624153 MGI:894649 RGD:1565383 603142 HGNC:9250 "ENST00000299492.9|NM_003621.5" -HGNC:19369 PPHLN1 periphilin 1 protein-coding gene gene with protein product Approved 12q12 12q12 2002-11-04 2023-01-20 51535 ENSG00000134283 OTTHUMG00000169440 uc001rng.2 AY157850 NM_201515 "CCDS55817|CCDS8741|CCDS44860|CCDS41773|CCDS44861|CCDS91684|CCDS31777" Q8NEY8 MGI:1917029 RGD:1306207 608150 HGNC:19369 "ENST00000358314.12|NM_201439.2" -HGNC:9253 PPIA peptidylprolyl isomerase A protein-coding gene gene with protein product Approved 7p13 07p13 CYPA "cyclophilin A|Peptidyl-prolyl cis-trans isomerase A" Cyclophilin peptidylprolyl isomerases 909 1991-12-06 2016-01-14 2023-01-20 5478 ENSG00000196262 OTTHUMG00000023687 uc003tlw.4 X52851 NM_021130 "CCDS5494|CCDS75592" P62937 "1989998|2197089|25678563" MGI:97749 RGD:3372 123840 objectId:2751 5.2.1.8 HGNC:9253 "ENST00000468812.6|NM_021130.5" +HGNC:9249 PPFIBP1 PPFIA binding protein 1 protein-coding gene gene with protein product Approved 12p11.23-p11.22 12p11.23-p11.22 "L2|hSGT2|hSgt2p|SGT2" liprin beta 1 PTPRF interacting protein, binding protein 1 (liprin beta 1) Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2023-01-20 8496 ENSG00000110841 OTTHUMG00000169207 uc001rib.3 AF034802 NM_177444 "CCDS55814|CCDS55813|CCDS8713|CCDS55812" Q86W92 "9624153|11836260" MGI:1914783 RGD:1310010 PPFIBP1 603141 HGNC:9249 "ENST00000228425.11|NM_003622.4" +HGNC:9250 PPFIBP2 PPFIA binding protein 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Cclp1 liprin beta 2 PTPRF interacting protein, binding protein 2 (liprin beta 2) Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2023-01-20 8495 ENSG00000166387 OTTHUMG00000165617 uc001mfj.6 AF034803 NM_003621 "CCDS91429|CCDS31419|CCDS58117|CCDS58116" Q8ND30 9624153 MGI:894649 RGD:1565383 603142 HGNC:9250 "ENST00000299492.9|NM_003621.5" +HGNC:19369 PPHLN1 periphilin 1 protein-coding gene gene with protein product Approved 12q12 12q12 2002-11-04 2023-01-20 51535 ENSG00000134283 OTTHUMG00000169440 uc001rng.2 AY157850 NM_201515 "CCDS55817|CCDS31777|CCDS44860|CCDS44861|CCDS91684|CCDS8741|CCDS41773" Q8NEY8 MGI:1917029 RGD:1306207 608150 HGNC:19369 "ENST00000358314.12|NM_201439.2" +HGNC:9253 PPIA peptidylprolyl isomerase A protein-coding gene gene with protein product Approved 7p13 07p13 CYPA "cyclophilin A|Peptidyl-prolyl cis-trans isomerase A" Cyclophilin peptidylprolyl isomerases 909 1991-12-06 2016-01-14 2023-01-20 5478 ENSG00000196262 OTTHUMG00000023687 uc003tlw.4 X52851 NM_021130 "CCDS75592|CCDS5494" P62937 "1989998|2197089|25678563" MGI:97749 RGD:3372 123840 objectId:2751 5.2.1.8 HGNC:9253 "ENST00000468812.6|NM_021130.5" HGNC:24369 PPIAL4A peptidylprolyl isomerase A like 4A protein-coding gene gene with protein product Approved 1p11.2 01p11.2 COAS2 "PPIAL4|PPIAL4B" "peptidylprolyl isomerase A (cyclophilin A)-like 4|peptidylprolyl isomerase A (cyclophilin A)-like 4B" 2005-04-21 2008-09-16 2016-01-14 2023-01-20 653505 ENSG00000263353 OTTHUMG00000185015 uc031upa.2 AB084917 NM_001143883 CCDS76197 Q9Y536 11948409 HGNC:24369 "ENST00000577856.3|NM_001143883.4" HGNC:33995 PPIAL4C peptidylprolyl isomerase A like 4C protein-coding gene gene with protein product Approved 1q21.2 01q21.2 2008-09-16 2016-01-14 2023-01-20 653598 ENSG00000288867 OTTHUMG00000188675 uc031uxg.1 NM_001135789 CCDS72898 A0A0B4J2A2 HGNC:33995 "ENST00000585245.3|NM_001135789.5" HGNC:33998 PPIAL4D peptidylprolyl isomerase A like 4D protein-coding gene gene with protein product Approved 1q21.1 01q21.1 2008-09-16 2016-01-14 2023-01-20 645142 ENSG00000289549 OTTHUMG00000078265 uc031usm.2 NM_001164261 CCDS59199 F5H284 HGNC:33998 "ENST00000544708.3|NM_001164261.2" @@ -26402,21 +26405,21 @@ HGNC:31355 PPIHP1 peptidylprolyl isomerase H pseudogene 1 pseudogene pseudogene HGNC:31356 PPIHP2 peptidylprolyl isomerase H pseudogene 2 pseudogene pseudogene Approved Xq23 Xq23 peptidyl prolyl isomerase H (cyclophilin H) pseudogene 2 2004-03-11 2016-01-14 2020-04-07 404199 ENSG00000220541 OTTHUMG00000022219 AY425815 NG_004860 PGOHUM00000305257 HGNC:31356 HGNC:9260 PPIL1 peptidylprolyl isomerase like 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 CYPL1 cyclophilin like 1 peptidylprolyl isomerase (cyclophilin)-like 1 "Cyclophilin peptidylprolyl isomerases|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "909|1507|1508|1510|1516" 1995-09-05 2015-11-23 2023-01-20 51645 ENSG00000137168 OTTHUMG00000014612 uc003omu.3 AF090992 NM_016059 CCDS4826 Q9Y3C6 "10072585|8978786" MGI:1916066 RGD:1309119 601301 HGNC:9260 "ENST00000373699.6|NM_016059.5" HGNC:20865 PPIL1P1 peptidylprolyl isomerase like 1 pseudogene 1 pseudogene pseudogene Approved 2p23.3 02p23.3 peptidylprolyl isomerase (cyclophilin)-like 1 pseudogene 1 2003-04-16 2015-11-23 2015-11-23 150947 ENSG00000237951 OTTHUMG00000151937 NG_001555 PGOHUM00000240604 HGNC:20865 -HGNC:9261 PPIL2 peptidylprolyl isomerase like 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "UBOX7|CYC4|Cyp-60" "U-box domain containing 7|peptidyl-prolyl cis-trans isomerase-like 2" peptidylprolyl isomerase (cyclophilin)-like 2 "U-box domain containing|Cyclophilin peptidylprolyl isomerases|Spliceosomal Bact complex" "365|909|1508" 1999-10-29 2015-11-23 2023-01-20 23759 ENSG00000100023 OTTHUMG00000191763 uc002zvi.5 NM_001317996 "CCDS46670|CCDS13793" Q13356 10591208 MGI:2447857 RGD:1309484 607588 5.2.1.8 HGNC:9261 "ENST00000398831.8|NM_014337.4" +HGNC:9261 PPIL2 peptidylprolyl isomerase like 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "UBOX7|CYC4|Cyp-60" "U-box domain containing 7|peptidyl-prolyl cis-trans isomerase-like 2" peptidylprolyl isomerase (cyclophilin)-like 2 "U-box domain containing|Cyclophilin peptidylprolyl isomerases|Spliceosomal Bact complex" "365|909|1508" 1999-10-29 2015-11-23 2023-01-20 23759 ENSG00000100023 OTTHUMG00000191763 uc002zvi.5 NM_001317996 "CCDS13793|CCDS46670" Q13356 10591208 MGI:2447857 RGD:1309484 607588 5.2.1.8 HGNC:9261 "ENST00000398831.8|NM_014337.4" HGNC:9262 PPIL3 peptidylprolyl isomerase like 3 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 CyPJ Cyclophilin J peptidylprolyl isomerase (cyclophilin)-like 3 "Cyclophilin peptidylprolyl isomerases|Spliceosomal C complex|Spliceosomal P complex" "909|1510|1516" 2000-05-31 2015-11-23 2023-01-20 53938 ENSG00000240344 OTTHUMG00000132782 uc002uwh.4 AF251049 NM_032472 "CCDS2333|CCDS2332" Q9H2H8 11435694 MGI:1917475 RGD:631415 615811 HGNC:9262 "ENST00000392283.9|NM_130906.3" HGNC:15702 PPIL4 peptidylprolyl isomerase like 4 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 peptidylprolyl isomerase (cyclophilin)-like 4 "RNA binding motif containing|Cyclophilin peptidylprolyl isomerases" "725|909" 2001-06-01 2015-11-23 2023-01-20 85313 ENSG00000131013 OTTHUMG00000015788 uc003qmo.3 NM_139126 CCDS34550 Q8WUA2 MGI:1914668 RGD:1311051 607609 HGNC:15702 "ENST00000253329.3|NM_139126.4" -HGNC:21557 PPIL6 peptidylprolyl isomerase like 6 protein-coding gene gene with protein product Approved 6q21 06q21 "bA425D10.6|MGC41939|dJ919F19.1|RSPH12" radial spoke 12 homolog (Chlamydomonas) peptidylprolyl isomerase (cyclophilin)-like 6 Cyclophilin peptidylprolyl isomerases 909 2003-06-24 2015-11-23 2023-01-20 285755 ENSG00000185250 OTTHUMG00000036593 uc003ptg.4 NM_001111298 "CCDS47466|CCDS69169|CCDS5074" Q8IXY8 MGI:1920325 RGD:1592581 HGNC:21557 "ENST00000521072.7|NM_173672.5" -HGNC:29023 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "KIAA0377|IPS1|VIP1" HISPPD2A histidine acid phosphatase domain containing 2A 2005-11-04 2010-01-26 2010-01-26 2023-01-20 9677 ENSG00000168781 OTTHUMG00000059758 uc001zry.5 AF502586 NM_014659 "CCDS91989|CCDS45252|CCDS32215|CCDS53937|CCDS86452" Q6PFW1 "17412958|17690096|18981179" MGI:2443281 RGD:1311552 610979 2.7.4.24 HGNC:29023 "ENST00000420765.6|NM_001394395.1" +HGNC:21557 PPIL6 peptidylprolyl isomerase like 6 protein-coding gene gene with protein product Approved 6q21 06q21 "bA425D10.6|MGC41939|dJ919F19.1|RSPH12" radial spoke 12 homolog (Chlamydomonas) peptidylprolyl isomerase (cyclophilin)-like 6 Cyclophilin peptidylprolyl isomerases 909 2003-06-24 2015-11-23 2023-01-20 285755 ENSG00000185250 OTTHUMG00000036593 uc003ptg.4 NM_001111298 "CCDS5074|CCDS69169|CCDS47466" Q8IXY8 MGI:1920325 RGD:1592581 HGNC:21557 "ENST00000521072.7|NM_173672.5" +HGNC:29023 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "KIAA0377|IPS1|VIP1" HISPPD2A histidine acid phosphatase domain containing 2A 2005-11-04 2010-01-26 2010-01-26 2023-01-20 9677 ENSG00000168781 OTTHUMG00000059758 uc001zry.5 AF502586 NM_014659 "CCDS32215|CCDS91989|CCDS45252|CCDS86452|CCDS53937" Q6PFW1 "17412958|17690096|18981179" MGI:2443281 RGD:1311552 610979 2.7.4.24 HGNC:29023 "ENST00000420765.6|NM_001394395.1" HGNC:32373 PPIP5K1P1 diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 pseudogene pseudogene Approved 15q15.3 15q15.3 "HISPPD2BP|KIAA0377P" HISPPD2B histidine acid phosphatase domain containing 2B (pseudogene) 2005-11-04 2010-01-26 2010-01-26 2020-04-20 554224 NG_029358 12825070 HGNC:32373 -HGNC:29035 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "KIAA0433|VIP2|CFAP160" "HISPPD1|DFNB100" "histidine acid phosphatase domain containing 1|deafness, autosomal recessive 100" Cilia and flagella associated 1491 2005-11-04 2010-01-26 2010-01-26 2023-01-20 23262 ENSG00000145725 OTTHUMG00000181461 uc063fui.1 AB007893 NM_015216 "CCDS34207|CCDS75283|CCDS93758|CCDS64212" O43314 "9455477|17690096|18981179|29590114" MGI:2142810 RGD:1590765 611648 2.7.4.24 HGNC:29035 "ENST00000358359.8|NM_001276277.3" HGNC:29035 +HGNC:29035 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "KIAA0433|VIP2|CFAP160" "HISPPD1|DFNB100" "histidine acid phosphatase domain containing 1|deafness, autosomal recessive 100" Cilia and flagella associated 1491 2005-11-04 2010-01-26 2010-01-26 2023-01-20 23262 ENSG00000145725 OTTHUMG00000181461 uc063fui.1 AB007893 NM_015216 "CCDS64212|CCDS34207|CCDS75283|CCDS93758" O43314 "9455477|17690096|18981179|29590114" MGI:2142810 RGD:1590765 611648 2.7.4.24 HGNC:29035 "ENST00000358359.8|NM_001276277.3" HGNC:29035 HGNC:9273 PPL periplakin protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Plakins 939 1997-08-22 2023-01-20 5493 ENSG00000118898 OTTHUMG00000129528 uc002cyd.1 AF013717 NM_002705 CCDS10526 O60437 "9570964|9521878" MGI:1194898 RGD:1305511 602871 470898 HGNC:9273 "ENST00000345988.7|NM_002705.5" HGNC:9275 PPM1A protein phosphatase, Mg2+/Mn2+ dependent 1A protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "MGC9201|PP2Calpha|PP2CA" "phosphatase 2C alpha|protein phosphatase 2C, alpha isoform" "protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform|protein phosphatase, Mg2+/Mn2+ dependent, 1A" Protein phosphatases, Mg2+/Mn2+ dependent 701 1993-02-05 2015-11-20 2023-01-20 5494 ENSG00000100614 OTTHUMG00000140333 uc001xey.5 S87759 NM_021003 "CCDS45120|CCDS9745|CCDS9744" P35813 1311954 MGI:99878 RGD:3373 606108 3.1.3.16 HGNC:9275 "ENST00000395076.9|NM_021003.5" HGNC:30175 PPM1AP1 protein phosphatase, Mg2+/Mn2+ dependent 1A pseudogene 1 pseudogene pseudogene Approved 8p22 08p22 "protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform pseudogene 1|protein phosphatase, Mg2+/Mn2+ dependent 1A, pseudogene 1" 2009-10-12 2015-11-20 2015-11-20 137012 ENSG00000250483 OTTHUMG00000161571 NG_002692 PGOHUM00000249256 HGNC:30175 -HGNC:9276 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B protein-coding gene gene with protein product Approved 2p21 02p21 "PPC2BETAX|PP2CB|PP2CBETA" protein phosphatase 2C, beta isoform "protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform|protein phosphatase, Mg2+/Mn2+ dependent, 1B" Protein phosphatases, Mg2+/Mn2+ dependent 701 1993-02-05 2015-11-20 2023-03-15 5495 ENSG00000138032 OTTHUMG00000128757 uc002rtt.4 AJ005801 NM_002706 "CCDS1817|CCDS1818|CCDS1816|CCDS46271" O75688 9684878 MGI:101841 RGD:3374 603770 244720 3.1.3.16 HGNC:9276 "ENST00000282412.9|NM_002706.6" -HGNC:55161 PPM1B-DT PPM1B divergent transcript non-coding RNA RNA, long non-coding Approved 2p21 02p21 Divergent transcripts 1990 2020-07-17 2020-07-17 118568818 ENSG00000273106 +HGNC:9276 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B protein-coding gene gene with protein product Approved 2p21 02p21 "PPC2BETAX|PP2CB|PP2CBETA" protein phosphatase 2C, beta isoform "protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform|protein phosphatase, Mg2+/Mn2+ dependent, 1B" Protein phosphatases, Mg2+/Mn2+ dependent 701 1993-02-05 2015-11-20 2023-03-15 5495 ENSG00000138032 OTTHUMG00000128757 uc002rtt.4 AJ005801 NM_002706 "CCDS1816|CCDS1818|CCDS1817|CCDS46271" O75688 9684878 MGI:101841 RGD:3374 603770 244720 3.1.3.16 HGNC:9276 "ENST00000282412.9|NM_002706.6" +HGNC:55161 PPM1B-DT PPM1B divergent transcript non-coding RNA RNA, long non-coding Approved 2p21 02p21 Divergent transcripts 1990 2020-07-17 2023-06-07 102723904 ENSG00000273106 XR_940034 HGNC:9277 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "Wip1|PP2C-DELTA" "wild-type p53-induced phosphatase 1|protein phosphatase 2C, delta isoform" "protein phosphatase 1D magnesium-dependent, delta isoform|protein phosphatase, Mg2+/Mn2+ dependent, 1D" Protein phosphatases, Mg2+/Mn2+ dependent 701 1998-10-14 2015-11-20 2023-01-20 8493 ENSG00000170836 OTTHUMG00000180052 uc002iyt.3 U78305 NM_003620 CCDS11625 O15297 9177166 MGI:1858214 RGD:1305460 LRG_770|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_770.xml PPM1D 605100 437674 objectId:3134 HGNC:9277 "ENST00000305921.8|NM_003620.4" HGNC:9277 HGNC:19322 PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "POPX1|KIAA1072|PP2CH|CaMKP-N" "partner of PIX 1|nuclear calmodulin-dependent protein kinase phosphatase" "protein phosphatase 1E (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1E" Protein phosphatases, Mg2+/Mn2+ dependent 701 2002-11-28 2015-11-20 2023-01-20 22843 ENSG00000175175 OTTHUMG00000179248 uc002iwx.5 AB028995 NM_014906 CCDS11613 Q8WY54 "11864573|10470851" MGI:2444096 RGD:735028 619308 HGNC:19322 "ENST00000308249.4|NM_014906.5" -HGNC:19388 PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "FEM-2|KIAA0015|POPX2|CaMKPase|CAMKP" "partner of PIX 2|Ca(2+)/calmodulin-dependent protein kinase phosphatase" "protein phosphatase 1F (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1F" Protein phosphatases, Mg2+/Mn2+ dependent 701 2002-11-28 2015-11-20 2023-01-20 9647 ENSG00000100034 OTTHUMG00000150835 uc002zvp.3 D13640 NM_014634 "CCDS93128|CCDS13796" P49593 "11864573|11559703" MGI:1918464 RGD:631363 619309 3.1.3.16 HGNC:19388 "ENST00000263212.10|NM_014634.4" +HGNC:19388 PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "FEM-2|KIAA0015|POPX2|CaMKPase|CAMKP" "partner of PIX 2|Ca(2+)/calmodulin-dependent protein kinase phosphatase" "protein phosphatase 1F (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1F" Protein phosphatases, Mg2+/Mn2+ dependent 701 2002-11-28 2015-11-20 2023-01-20 9647 ENSG00000100034 OTTHUMG00000150835 uc002zvp.3 D13640 NM_014634 "CCDS13796|CCDS93128" P49593 "11864573|11559703" MGI:1918464 RGD:631363 619309 3.1.3.16 HGNC:19388 "ENST00000263212.10|NM_014634.4" HGNC:40888 PPM1F-AS1 PPM1F antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.22 22q11.22 Antisense RNAs 1987 2019-10-03 2019-10-03 100286925 ENSG00000224086 OTTHUMG00000153510 NR_147620 HGNC:40888 HGNC:9278 PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "PP2CG|PP2Cgamma" "PP2C, gamma|protein phosphatase 2C, gamma isoform" "protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform|protein phosphatase, Mg2+/Mn2+ dependent, 1G" Protein phosphatases, Mg2+/Mn2+ dependent 701 1997-11-11 2015-11-20 2023-01-20 5496 ENSG00000115241 OTTHUMG00000097788 uc002rkl.5 Y13936 NM_002707 CCDS1752 O15355 9276438 MGI:106065 RGD:628676 605119 470900 3.1.3.16 HGNC:9278 "ENST00000344034.5|NM_177983.3" HGNC:18583 PPM1H protein phosphatase, Mg2+/Mn2+ dependent 1H protein-coding gene gene with protein product Approved 12q14.1-q14.2 12q14.1-q14.2 "KIAA1157|FLJ13253|NERPP-2C" neurite extension-related protein phosphatase related to PP2C ARHCL1 "ras homolog gene family, member C like 1|protein phosphatase 1H (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1H" Protein phosphatases, Mg2+/Mn2+ dependent 701 2002-04-29 2004-03-26 2015-11-20 2023-01-20 57460 ENSG00000111110 OTTHUMG00000169990 uc001srk.5 AB032983 NM_020700 CCDS44934 Q9ULR3 MGI:2442087 RGD:1309528 616016 3.1.3.16 HGNC:18583 "ENST00000228705.7|NM_020700.2" @@ -26424,21 +26427,21 @@ HGNC:20785 PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J protein-coding gene HGNC:55355 PPM1J-DT PPM1J divergent transcript non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Divergent transcripts 1990 2020-11-05 2020-11-05 105378910 ENSG00000261595 XR_947713 HGNC:25415 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "DKFZp761G058|PP2Ckappa|hPTMP|PP2Cm|BDP" "PP2C-type mitochondrial phosphoprotein phosphatase|protein phosphatase 2C kappa|branched-chain α-ketoacid dehydrogenase phosphatase" "protein phosphatase 1K (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1K" Protein phosphatases, Mg2+/Mn2+ dependent 701 2005-01-11 2015-11-20 2023-01-20 152926 ENSG00000163644 OTTHUMG00000130952 uc003hrm.6 BC037552 NM_152542 CCDS3629 Q8N3J5 22291014 MGI:2442111 RGD:1308501 611065 326069 3.1.3.16 HGNC:25415 "ENST00000608933.6|NM_152542.5" HGNC:25415 HGNC:54093 PPM1K-DT PPM1K divergent transcript non-coding RNA RNA, long non-coding Approved 4q22.1 04q22.1 Divergent transcripts 1990 2018-11-04 2018-11-04 105369192 ENSG00000246375 NR_134236 HGNC:54093 -HGNC:16381 PPM1L protein phosphatase, Mg2+/Mn2+ dependent 1L protein-coding gene gene with protein product Approved 3q25.33-q26.1 03q25.33-q26.1 PP2CE "PP2Cepsilon|Protein phosphatase 2C epsilon isoform" "protein phosphatase 1 (formerly 2C)-like|protein phosphatase, Mg2+/Mn2+ dependent, 1L" Protein phosphatases, Mg2+/Mn2+ dependent 701 2003-10-15 2015-11-20 2023-01-20 151742 ENSG00000163590 OTTHUMG00000159048 uc003fdu.4 AK055115 NM_139245 "CCDS33886|CCDS82869|CCDS82868" Q5SGD2 12556533 MGI:2139740 RGD:1305220 611931 3.1.3.16 HGNC:16381 "ENST00000498165.6|NM_139245.4" -HGNC:55390 PPM1L-DT PPM1L divergent transcript non-coding RNA RNA, long non-coding Approved 3q25.33 03q25.33 Divergent transcripts 1990 2020-12-17 2020-12-17 119863869 ENSG00000260572 -HGNC:26506 PPM1M protein phosphatase, Mg2+/Mn2+ dependent 1M protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "PP2Ceta|FLJ32332" protein phosphatase 2C eta "protein phosphatase 1M (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1M" Protein phosphatases, Mg2+/Mn2+ dependent 701 2005-04-25 2015-11-20 2023-03-15 132160 ENSG00000164088 OTTHUMG00000153046 uc011bed.3 AK096681 NM_144641 "CCDS93282|CCDS46840" Q96MI6 12477932 MGI:1915155 RGD:1584266 608979 HGNC:26506 "ENST00000323588.9|NM_144641.4" +HGNC:16381 PPM1L protein phosphatase, Mg2+/Mn2+ dependent 1L protein-coding gene gene with protein product Approved 3q25.33-q26.1 03q25.33-q26.1 PP2CE "PP2Cepsilon|Protein phosphatase 2C epsilon isoform" "protein phosphatase 1 (formerly 2C)-like|protein phosphatase, Mg2+/Mn2+ dependent, 1L" Protein phosphatases, Mg2+/Mn2+ dependent 701 2003-10-15 2015-11-20 2023-01-20 151742 ENSG00000163590 OTTHUMG00000159048 uc003fdu.4 AK055115 NM_139245 "CCDS82868|CCDS82869|CCDS33886" Q5SGD2 12556533 MGI:2139740 RGD:1305220 611931 3.1.3.16 HGNC:16381 "ENST00000498165.6|NM_139245.4" +HGNC:55390 PPM1L-DT PPM1L divergent transcript non-coding RNA RNA, long non-coding Approved 3q25.33 03q25.33 Divergent transcripts 1990 2020-12-17 2020-12-17 119863869 ENSG00000260572 NR_185913 +HGNC:26506 PPM1M protein phosphatase, Mg2+/Mn2+ dependent 1M protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "PP2Ceta|FLJ32332" protein phosphatase 2C eta "protein phosphatase 1M (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1M" Protein phosphatases, Mg2+/Mn2+ dependent 701 2005-04-25 2015-11-20 2023-03-15 132160 ENSG00000164088 OTTHUMG00000153046 uc011bed.3 AK096681 NM_144641 "CCDS46840|CCDS93282" Q96MI6 12477932 MGI:1915155 RGD:1584266 608979 HGNC:26506 "ENST00000323588.9|NM_144641.4" HGNC:26845 PPM1N protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ40125 protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) Protein phosphatases, Mg2+/Mn2+ dependent 701 2010-03-05 2015-11-20 2023-03-15 147699 ENSG00000213889 OTTHUMG00000140397 uc002pce.4 AK097444 NM_001080401 CCDS46115 Q8N819 MGI:2142330 RGD:1562091 HGNC:26845 "ENST00000451287.7|NM_001080401.2" -HGNC:30178 PPME1 protein phosphatase methylesterase 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "PME-1|ABDH19" "Abhydrolase domain containing|Protein phosphatase 2 modulatory subunits" "4|1265" 2005-11-18 2023-01-20 51400 ENSG00000214517 OTTHUMG00000168115 uc001ouw.5 NM_016147 "CCDS44678|CCDS60891" Q9Y570 10318862 MGI:1919840 RGD:1309683 611117 S33.984 objectId:2875 3.1.1.89 HGNC:30178 "ENST00000328257.13|NM_016147.3" +HGNC:30178 PPME1 protein phosphatase methylesterase 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "PME-1|ABDH19" "Abhydrolase domain containing|Protein phosphatase 2 modulatory subunits" "4|1265" 2005-11-18 2023-01-20 51400 ENSG00000214517 OTTHUMG00000168115 uc001ouw.5 NM_016147 "CCDS60891|CCDS44678" Q9Y570 10318862 MGI:1919840 RGD:1309683 611117 S33.984 objectId:2875 3.1.1.89 HGNC:30178 "ENST00000328257.13|NM_016147.3" HGNC:9280 PPOX protoporphyrinogen oxidase protein-coding gene gene with protein product Approved 1q23.3 01q23.3 PPO VP variegate porphyria 1988-08-31 2023-01-20 5498 ENSG00000143224 OTTHUMG00000034342 uc001fyg.3 BC002357 NM_000309 CCDS1221 P50336 "8575762|10457135" MGI:104968 RGD:1310543 LRG_1078|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1078.xml 600923 117969 1.3.3.4 HGNC:9280 "ENST00000367999.9|NM_001122764.3" HGNC:9280 -HGNC:9281 PPP1CA protein phosphatase 1 catalytic subunit alpha protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "PP1A|PP-1A|PP1alpha" PPP1A "protein phosphatase 1, catalytic subunit, alpha isoform|protein phosphatase 1, catalytic subunit, alpha isozyme" Protein phosphatase catalytic subunits 693 1989-10-11 2016-02-10 2023-01-20 5499 ENSG00000172531 OTTHUMG00000167671 uc001okw.2 NM_002708 "CCDS8160|CCDS31618|CCDS8161" P62136 MGI:103016 RGD:3375 176875 3.1.3.16 HGNC:9281 "ENST00000376745.9|NM_002708.4" +HGNC:9281 PPP1CA protein phosphatase 1 catalytic subunit alpha protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "PP1A|PP-1A|PP1alpha" PPP1A "protein phosphatase 1, catalytic subunit, alpha isoform|protein phosphatase 1, catalytic subunit, alpha isozyme" Protein phosphatase catalytic subunits 693 1989-10-11 2016-02-10 2023-01-20 5499 ENSG00000172531 OTTHUMG00000167671 uc001okw.2 NM_002708 "CCDS31618|CCDS8160|CCDS8161" P62136 MGI:103016 RGD:3375 176875 3.1.3.16 HGNC:9281 "ENST00000376745.9|NM_002708.4" HGNC:9282 PPP1CB protein phosphatase 1 catalytic subunit beta protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "PP1B|PP-1B|PP1beta|PP1c|MP|PPP1beta" myosin phosphatase "protein phosphatase 1, catalytic subunit, beta isoform|protein phosphatase 1, catalytic subunit, beta isozyme" Protein phosphatase catalytic subunits 693 1993-01-22 2016-02-10 2023-01-20 5500 ENSG00000213639 OTTHUMG00000152011 uc002rmg.4 NM_002709 CCDS33169 P62140 8312365 MGI:104871 RGD:3376 600590 470902 3.1.3.16 HGNC:9282 "ENST00000395366.3|NM_002709.3" HGNC:9282 HGNC:55829 PPP1CB-DT PPP1CB divergent transcript non-coding RNA RNA, long non-coding Approved 2p23.2 02p23.2 Divergent transcripts 1990 2021-08-02 2021-08-02 112267877 ENSG00000226833 XR_001739359 HGNC:9283 PPP1CC protein phosphatase 1 catalytic subunit gamma protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "PP1C|PP1gamma" "protein phosphatase 1, catalytic subunit, gamma isoform|protein phosphatase 1, catalytic subunit, gamma isozyme" Protein phosphatase catalytic subunits 693 1992-12-01 2016-02-10 2023-01-20 5501 ENSG00000186298 OTTHUMG00000169531 uc001tru.4 NM_001244974 "CCDS58279|CCDS9150" P36873 MGI:104872 RGD:3377 176914 3.1.3.16 HGNC:9283 "ENST00000335007.10|NM_002710.4" HGNC:9286 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A protein-coding gene gene with protein product Approved 12q13.2 12q13.2 protein phosphatase 1, regulatory (inhibitor) subunit 1A Protein phosphatase 1 regulatory subunits 694 1993-01-22 2015-11-18 2023-01-20 5502 ENSG00000135447 OTTHUMG00000169934 uc001sgg.3 U48707 NM_006741 CCDS44912 Q13522 8611507 MGI:1889595 RGD:62018 613246 3.1.3.16 HGNC:9286 "ENST00000257905.13|NM_006741.4" HGNC:16316 PPP1R1AP1 protein phosphatase 1 regulatory inhibitor subunit 1A pseudogene 1 pseudogene pseudogene Approved 11q13.5 11q13.5 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 1 2001-08-08 2015-11-18 2015-11-18 94304 ENSG00000255255 OTTHUMG00000165320 NG_030171 11948623 PGOHUM00000242373 HGNC:16316 HGNC:16317 PPP1R1AP2 protein phosphatase 1 regulatory inhibitor subunit 1A pseudogene 2 pseudogene pseudogene Approved 16p11.1 16p11.1 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 2 2001-08-08 2015-11-18 2020-04-20 100129627 ENSG00000261084 OTTHUMG00000176027 NG_022518 11948623 PGOHUM00000293844 HGNC:16317 -HGNC:9287 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B protein-coding gene gene with protein product Approved 17q12 17q12 "DARPP-32|FLJ20940" dopamine and cAMP regulated phosphoprotein protein phosphatase 1, regulatory (inhibitor) subunit 1B Protein phosphatase 1 regulatory subunits 694 1993-01-22 2015-11-18 2023-01-20 84152 ENSG00000131771 OTTHUMG00000133210 uc002hrz.4 AI124650 NM_032192 "CCDS11339|CCDS11340" Q9UD71 8120638 MGI:94860 RGD:621859 604399 3.1.3.16 HGNC:9287 "ENST00000254079.9|NM_032192.4" -HGNC:14940 PPP1R1C protein phosphatase 1 regulatory inhibitor subunit 1C protein-coding gene gene with protein product Approved 2q31.3-q32.1 02q31.3-q32.1 Inhibitor-1-like protein phosphatase 1, regulatory (inhibitor) subunit 1C Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2023-01-20 151242 ENSG00000150722 OTTHUMG00000154326 uc002uop.3 "AF494535|BC017943" NM_001080545 "CCDS46468|CCDS58740" Q8WVI7 11948623 MGI:1923185 RGD:1562095 613240 HGNC:14940 "ENST00000682840.1|NM_001080545.3" +HGNC:9287 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B protein-coding gene gene with protein product Approved 17q12 17q12 "DARPP-32|FLJ20940" dopamine and cAMP regulated phosphoprotein protein phosphatase 1, regulatory (inhibitor) subunit 1B Protein phosphatase 1 regulatory subunits 694 1993-01-22 2015-11-18 2023-01-20 84152 ENSG00000131771 OTTHUMG00000133210 uc002hrz.4 AI124650 NM_032192 "CCDS11340|CCDS11339" Q9UD71 8120638 MGI:94860 RGD:621859 604399 3.1.3.16 HGNC:9287 "ENST00000254079.9|NM_032192.4" +HGNC:14940 PPP1R1C protein phosphatase 1 regulatory inhibitor subunit 1C protein-coding gene gene with protein product Approved 2q31.3-q32.1 02q31.3-q32.1 Inhibitor-1-like protein phosphatase 1, regulatory (inhibitor) subunit 1C Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2023-01-20 151242 ENSG00000150722 OTTHUMG00000154326 uc002uop.3 "AF494535|BC017943" NM_001080545 "CCDS58740|CCDS46468" Q8WVI7 11948623 MGI:1923185 RGD:1562095 613240 HGNC:14940 "ENST00000682840.1|NM_001080545.3" HGNC:9288 PPP1R2 protein phosphatase 1 regulatory inhibitor subunit 2 protein-coding gene gene with protein product Approved 3q29 03q29 "IPP2|PPP1R2A" protein phosphatase 1, regulatory (inhibitor) subunit 2 Protein phosphatase 1 regulatory subunits 694 1993-01-22 2015-11-18 2023-01-20 5504 ENSG00000184203 OTTHUMG00000155887 uc032sob.2 U68111 NM_006241 CCDS3309 P41236 "9126490|8119416" MGI:1914099 RGD:621099 601792 3.1.3.16 HGNC:9288 "ENST00000618156.5|NM_006241.8" HGNC:16318 PPP1R2B PPP1R2 family member B protein-coding gene gene with protein product Approved 5q33.3 05q33.3 MGC87149 PPP1R2P3 "protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3|protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 3" 2001-08-29 2018-01-22 2018-01-22 2023-01-20 153743 ENSG00000231989 OTTHUMG00000163467 BC066922 NM_206858 CCDS87340 Q6NXS1 "11948623|23506001" MGI:1914099 HGNC:16318 "ENST00000522232.3|NM_206858.3" HGNC:16324 PPP1R2C PPP1R2C family member C protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 I-4 PPP1R2P9 "protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9|protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 9" 2001-08-08 2018-01-22 2018-01-22 2023-01-20 80316 ENSG00000102055 OTTHUMG00000021382 AB044137 NM_025210 CCDS87739 O14990 "11948623|24195737" 301017 PGOHUM00000241251 HGNC:16324 "ENST00000378131.4|NM_025210.2" @@ -26455,12 +26458,12 @@ HGNC:56150 PPP1R3B-DT PPP1R3B divergent transcript non-coding RNA RNA, long non- HGNC:9293 PPP1R3C protein phosphatase 1 regulatory subunit 3C protein-coding gene gene with protein product Approved 10q23.32 10q23.32 PTG "Phosphatase 1, regulatory inhibitor subunit 5|protein targeting to glycogen" PPP1R5 "protein phosphatase 1, regulatory (inhibitor) subunit 3C|protein phosphatase 1, regulatory subunit 3C" Protein phosphatase 1 regulatory subunits 694 1997-06-24 2001-08-01 2015-11-18 2023-01-20 5507 ENSG00000119938 OTTHUMG00000018745 uc001kho.4 Y18207 NM_005398 CCDS7416 Q9UQK1 8985175 MGI:1858229 RGD:1309132 602999 HGNC:9293 "ENST00000238994.6|NM_005398.7" HGNC:9294 PPP1R3D protein phosphatase 1 regulatory subunit 3D protein-coding gene gene with protein product Approved 20q13.33 20q13.33 PPP1R6 "protein phosphatase 1, regulatory (inhibitor) subunit 3D|protein phosphatase 1, regulatory subunit 3D" Protein phosphatase 1 regulatory subunits 694 1998-08-13 2001-08-01 2015-11-18 2023-01-20 5509 ENSG00000132825 OTTHUMG00000032876 uc002ybb.4 Y18206 NM_006242 CCDS13483 O95685 "9414128|9275233" MGI:1917664 RGD:1586306 603326 HGNC:9294 "ENST00000370996.5|NM_006242.4" HGNC:14943 PPP1R3E protein phosphatase 1 regulatory subunit 3E protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ00089 "protein phosphatase 1, regulatory (inhibitor) subunit 3E|protein phosphatase 1, regulatory subunit 3E" Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2023-01-20 90673 ENSG00000235194 OTTHUMG00000172116 uc031qns.2 AK024489 NM_001276318 CCDS61403 Q9H7J1 "11948623|15752363" MGI:2145790 RGD:1583926 619540 HGNC:14943 "ENST00000452015.9|NM_001276318.2" -HGNC:14944 PPP1R3F protein phosphatase 1 regulatory subunit 3F protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 Hb2E "protein phosphatase 1, regulatory (inhibitor) subunit 3F|protein phosphatase 1, regulatory subunit 3F" Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2023-01-20 89801 ENSG00000049769 OTTHUMG00000024139 uc004dnh.3 NM_033215 "CCDS55415|CCDS35254" Q6ZSY5 11948623 MGI:1859617 RGD:1566398 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PPP1R3F 301104 HGNC:14944 "ENST00000055335.11|NM_033215.5" +HGNC:14944 PPP1R3F protein phosphatase 1 regulatory subunit 3F protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 Hb2E "protein phosphatase 1, regulatory (inhibitor) subunit 3F|protein phosphatase 1, regulatory subunit 3F" Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2023-01-20 89801 ENSG00000049769 OTTHUMG00000024139 uc004dnh.3 NM_033215 "CCDS35254|CCDS55415" Q6ZSY5 11948623 MGI:1859617 RGD:1566398 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PPP1R3F 301104 HGNC:14944 "ENST00000055335.11|NM_033215.5" HGNC:14945 PPP1R3G protein phosphatase 1 regulatory subunit 3G protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "protein phosphatase 1, regulatory (inhibitor) subunit 3G|protein phosphatase 1, regulatory subunit 3G" Protein phosphatase 1 regulatory subunits 694 2001-07-03 2015-11-18 2023-01-20 648791 ENSG00000219607 OTTHUMG00000014172 uc011dia.2 NM_001145115 CCDS47366 B7ZBB8 11948623 MGI:1923737 RGD:1308930 619541 HGNC:14945 "ENST00000405617.4|NM_001145115.3" -HGNC:9295 PPP1R7 protein phosphatase 1 regulatory subunit 7 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 sds22 "protein phosphatase 1, regulatory (inhibitor) subunit 7|protein phosphatase 1, regulatory subunit 7" Protein phosphatase 1 regulatory subunits 694 1998-01-21 2015-11-18 2023-01-20 5510 ENSG00000115685 OTTHUMG00000133390 uc002wat.3 AF067136 NM_002712 "CCDS63193|CCDS63194|CCDS2546|CCDS63190|CCDS63192" Q15435 "7498485|7670491|10231361" MGI:1913635 RGD:1308169 602877 HGNC:9295 "ENST00000234038.11|NM_002712.3" -HGNC:9296 PPP1R8 protein phosphatase 1 regulatory subunit 8 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "ard-1|NIPP-1|PRO2047|ARD1|NIPP1" "RNase E|nuclear subunit of PP-1|nuclear inhibitor of protein phosphatase-1|activator of RNA decay|protein phosphatase 1 regulatory subunit 8" "protein phosphatase 1, regulatory (inhibitor) subunit 8|protein phosphatase 1, regulatory subunit 8" "Protein phosphatase 1 regulatory subunits|Endoribonucleases|Small nucleolar RNA protein coding host genes" "694|1687|1835" 1998-04-29 2015-11-18 2023-01-20 5511 ENSG00000117751 OTTHUMG00000003734 uc001bov.3 AF061959 NM_014110 "CCDS312|CCDS313|CCDS311" Q12972 "7524097|8473324" MGI:2140494 RGD:1306280 602636 HGNC:9296 "ENST00000311772.10|NM_014110.5" +HGNC:9295 PPP1R7 protein phosphatase 1 regulatory subunit 7 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 sds22 "protein phosphatase 1, regulatory (inhibitor) subunit 7|protein phosphatase 1, regulatory subunit 7" Protein phosphatase 1 regulatory subunits 694 1998-01-21 2015-11-18 2023-01-20 5510 ENSG00000115685 OTTHUMG00000133390 uc002wat.3 AF067136 NM_002712 "CCDS63193|CCDS63192|CCDS63194|CCDS63190|CCDS2546" Q15435 "7498485|7670491|10231361" MGI:1913635 RGD:1308169 602877 HGNC:9295 "ENST00000234038.11|NM_002712.3" +HGNC:9296 PPP1R8 protein phosphatase 1 regulatory subunit 8 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "ard-1|NIPP-1|PRO2047|ARD1|NIPP1" "RNase E|nuclear subunit of PP-1|nuclear inhibitor of protein phosphatase-1|activator of RNA decay|protein phosphatase 1 regulatory subunit 8" "protein phosphatase 1, regulatory (inhibitor) subunit 8|protein phosphatase 1, regulatory subunit 8" "Protein phosphatase 1 regulatory subunits|Endoribonucleases|Small nucleolar RNA protein coding host genes" "694|1687|1835" 1998-04-29 2015-11-18 2023-01-20 5511 ENSG00000117751 OTTHUMG00000003734 uc001bov.3 AF061959 NM_014110 "CCDS311|CCDS312|CCDS313" Q12972 "7524097|8473324" MGI:2140494 RGD:1306280 602636 HGNC:9296 "ENST00000311772.10|NM_014110.5" HGNC:9297 PPP1R8P1 protein phosphatase 1 regulatory subunit 8 pseudogene 1 pseudogene pseudogene Approved 1p33 01p33 PPP1R8P "protein phosphatase 1, regulatory (inhibitor) subunit 8 pseudogene|protein phosphatase 1, regulatory (inhibitor) subunit 8 pseudogene 1|protein phosphatase 1, regulatory subunit 8 pseudogene 1" 1998-04-29 2011-08-19 2015-11-18 2015-11-18 5512 ENSG00000224986 OTTHUMG00000007792 AF064758 NG_001178 10103062 PGOHUM00000244016 HGNC:9297 -HGNC:14946 PPP1R9A protein phosphatase 1 regulatory subunit 9A protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "Neurabin-I|KIAA1222|FLJ20068" "protein phosphatase 1, regulatory (inhibitor) subunit 9A|protein phosphatase 1, regulatory subunit 9A" "Protein phosphatase 1 regulatory subunits|Sterile alpha motif domain containing|PDZ domain containing" "694|760|1220" 2001-06-29 2015-11-18 2023-01-20 55607 ENSG00000158528 OTTHUMG00000155566 uc003unp.5 AB033048 NM_001166160 "CCDS55128|CCDS34683|CCDS55127|CCDS55129" Q9ULJ8 10574462 MGI:2442401 RGD:632280 602468 HGNC:14946 "ENST00000433360.6|NM_001166160.2" +HGNC:14946 PPP1R9A protein phosphatase 1 regulatory subunit 9A protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "Neurabin-I|KIAA1222|FLJ20068" "protein phosphatase 1, regulatory (inhibitor) subunit 9A|protein phosphatase 1, regulatory subunit 9A" "Protein phosphatase 1 regulatory subunits|Sterile alpha motif domain containing|PDZ domain containing" "694|760|1220" 2001-06-29 2015-11-18 2023-01-20 55607 ENSG00000158528 OTTHUMG00000155566 uc003unp.5 AB033048 NM_001166160 "CCDS55129|CCDS55127|CCDS34683|CCDS55128" Q9ULJ8 10574462 MGI:2442401 RGD:632280 602468 HGNC:14946 "ENST00000433360.6|NM_001166160.2" HGNC:40696 PPP1R9A-AS1 PPP1R9A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 Antisense RNAs 1987 2019-10-03 2019-10-03 105375405 ENSG00000236197 OTTHUMG00000155562 NR_183323 HGNC:40696 HGNC:9298 PPP1R9B protein phosphatase 1 regulatory subunit 9B protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "Spn|SPINO" "spinophilin|Neurabin-2" "PPP1R6|PPP1R9" "protein phosphatase 1, regulatory subunit 9B, spinophilin|protein phosphatase 1, regulatory (inhibitor) subunit 9B|protein phosphatase 1, regulatory subunit 9B" "Protein phosphatase 1 regulatory subunits|PDZ domain containing" "694|1220" 1997-10-10 2001-07-02 2015-11-18 2023-01-20 84687 ENSG00000108819 OTTHUMG00000162008 uc032fmj.2 AJ401189 NM_032595 CCDS74102 Q96SB3 9275233 MGI:2387581 RGD:632281 603325 HGNC:9298 "ENST00000612501.2|NM_032595.5" HGNC:9284 PPP1R10 protein phosphatase 1 regulatory subunit 10 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "PNUTS|FB19|CAT53|p99" "phosphatase 1 nuclear targeting subunit|HLA-C associated transcript 53" "protein phosphatase 1, regulatory (inhibitor) subunit 10|protein phosphatase 1, regulatory subunit 10" Protein phosphatase 1 regulatory subunits 694 1998-08-13 2015-11-18 2023-01-20 5514 ENSG00000204569 OTTHUMG00000031259 uc003nqn.3 Y13247 NM_002714 CCDS4681 Q96QC0 "9461602|9784381" MGI:1289273 RGD:620079 603771 HGNC:9284 "ENST00000376511.7|NM_002714.4" @@ -26468,10 +26471,10 @@ HGNC:16325 PPP1R10P1 protein phosphatase 1 regulatory subunit 10 pseudogene 1 ps HGNC:9285 PPP1R11 protein phosphatase 1 regulatory inhibitor subunit 11 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "HCGV|Tctex5|HCG-V|CFAP255" TCTE5 protein phosphatase 1, regulatory (inhibitor) subunit 11 "Protein phosphatase 1 regulatory subunits|Cilia and flagella associated" "694|1491" 2000-02-11 2015-11-18 2023-03-15 6992 ENSG00000204619 OTTHUMG00000031260 uc003npb.4 X81003 NM_021959 CCDS4671 O60927 "9843442|8781118" MGI:1923747 RGD:1303163 606670 HGNC:9285 "ENST00000376772.8|NM_021959.3" HGNC:16326 PPP1R11P1 protein phosphatase 1 regulatory inhibitor subunit 11 pseudogene 1 pseudogene pseudogene Approved 1p36.12 01p36.12 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 1 2001-08-08 2015-11-18 2015-11-18 94297 ENSG00000236216 OTTHUMG00000002940 NG_030207 11948623 PGOHUM00000244630 HGNC:16326 HGNC:16327 PPP1R11P2 protein phosphatase 1 regulatory inhibitor subunit 11 pseudogene 2 pseudogene pseudogene Approved Xp11.21 Xp11.21 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 2 2001-08-08 2015-11-18 2015-11-18 94298 ENSG00000231765 OTTHUMG00000021682 NG_009575 11948623 PGOHUM00000241800 HGNC:16327 -HGNC:7618 PPP1R12A protein phosphatase 1 regulatory subunit 12A protein-coding gene gene with protein product Approved 12q21.2-q21.31 12q21.2-q21.31 "MBS|M130" "myosin phosphatase-targeting subunit 1|myosin binding subunit" MYPT1 "protein phosphatase 1, regulatory (inhibitor) subunit 12A|protein phosphatase 1, regulatory subunit 12A" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 1997-12-23 2001-08-10 2015-11-18 2023-01-20 4659 ENSG00000058272 OTTHUMG00000170100 uc010sud.2 D87930 NM_002480 "CCDS44947|CCDS58260|CCDS58259|CCDS44948" O14974 9286714 MGI:1309528 RGD:620013 602021 HGNC:7618 "ENST00000450142.7|NM_002480.3" HGNC:7618 +HGNC:7618 PPP1R12A protein phosphatase 1 regulatory subunit 12A protein-coding gene gene with protein product Approved 12q21.2-q21.31 12q21.2-q21.31 "MBS|M130" "myosin phosphatase-targeting subunit 1|myosin binding subunit" MYPT1 "protein phosphatase 1, regulatory (inhibitor) subunit 12A|protein phosphatase 1, regulatory subunit 12A" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 1997-12-23 2001-08-10 2015-11-18 2023-01-20 4659 ENSG00000058272 OTTHUMG00000170100 uc010sud.2 D87930 NM_002480 "CCDS44948|CCDS58260|CCDS58259|CCDS44947" O14974 9286714 MGI:1309528 RGD:620013 602021 HGNC:7618 "ENST00000450142.7|NM_002480.3" HGNC:7618 HGNC:51903 PPP1R12A-AS1 PPP1R12A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.31 12q21.31 R12A-AS1 Antisense RNAs 1987 2017-02-16 2018-09-07 105369865 ENSG00000257557 OTTHUMG00000170083 NR_146533 27646849 HGNC:51903 HGNC:55456 PPP1R12A-AS2 PPP1R12A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 Antisense RNAs 1987 2021-01-20 2021-01-20 2021-01-20 2021-01-20 105369864 ENSG00000258048 XR_945137 -HGNC:7619 PPP1R12B protein phosphatase 1 regulatory subunit 12B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "MGC87886|MGC131980|PP1bp55" "myosin phosphatase regulatory subunit|myosin phosphatase, target subunit 2" MYPT2 "protein phosphatase 1, regulatory (inhibitor) subunit 12B|protein phosphatase 1, regulatory subunit 12B" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 1998-07-13 2001-08-10 2015-11-18 2023-01-20 4660 ENSG00000077157 OTTHUMG00000041393 uc001gya.3 AB003062 NM_032105 "CCDS53458|CCDS30973|CCDS1426|CCDS81416|CCDS44294|CCDS44295|CCDS73005|CCDS53459" O60237 9570949 MGI:1916417 RGD:1309287 603768 HGNC:7619 "ENST00000608999.6|NM_002481.4" +HGNC:7619 PPP1R12B protein phosphatase 1 regulatory subunit 12B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "MGC87886|MGC131980|PP1bp55" "myosin phosphatase regulatory subunit|myosin phosphatase, target subunit 2" MYPT2 "protein phosphatase 1, regulatory (inhibitor) subunit 12B|protein phosphatase 1, regulatory subunit 12B" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 1998-07-13 2001-08-10 2015-11-18 2023-01-20 4660 ENSG00000077157 OTTHUMG00000041393 uc001gya.3 AB003062 NM_032105 "CCDS30973|CCDS44295|CCDS44294|CCDS53458|CCDS81416|CCDS1426|CCDS73005|CCDS53459" O60237 9570949 MGI:1916417 RGD:1309287 603768 HGNC:7619 "ENST00000608999.6|NM_002481.4" HGNC:18498 PPP1R12BP1 protein phosphatase 1 regulatory subunit 12B pseudogene 1 pseudogene pseudogene Approved Yq11.23 Yq11.23 PPP1R12BPY1 PPP1R12BP "protein phosphatase 1, regulatory (inhibitor) subunit 12B Y-linked pseudogene|protein phosphatase 1, regulatory (inhibitor) subunit 12B pseudogene, Y-linked 1|protein phosphatase 1, regulatory subunit 12B pseudogene, Y-linked 1" 2002-05-22 2010-03-17 2015-11-18 2015-11-18 360021 ENSG00000229238 OTTHUMG00000036764 NG_087935 12815422 PGOHUM00000233885 HGNC:18498 HGNC:23970 PPP1R12BP2 protein phosphatase 1 regulatory subunit 12B pseudogene 2 pseudogene pseudogene Approved Yq11.223 Yq11.223 "protein phosphatase 1, regulatory (inhibitor) subunit 12B Y-linked pseudogene 2|protein phosphatase 1, regulatory subunit 12B Y-linked pseudogene 2" 2010-03-17 2015-11-18 2015-11-18 360020 ENSG00000205936 OTTHUMG00000044061 NG_002939 12815422 PGOHUM00000234036 HGNC:23970 HGNC:14947 PPP1R12C protein phosphatase 1 regulatory subunit 12C protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "DKFZP434D0412|p84|MBS85|p85|AAVS1" myosin-binding subunit 85 LENG3 "leukocyte receptor cluster (LRC) member 3|protein phosphatase 1, regulatory (inhibitor) subunit 12C|protein phosphatase 1, regulatory subunit 12C" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 2001-06-29 2015-11-18 2023-01-20 54776 ENSG00000125503 OTTHUMG00000180540 uc002qix.5 AF312028 NM_017607 CCDS12916 Q9BZL4 "11399775|22967807" MGI:1924258 RGD:1584883 613245 HGNC:14947 "ENST00000263433.8|NM_017607.4" @@ -26487,15 +26490,15 @@ HGNC:16330 PPP1R14BP3 protein phosphatase 1 regulatory inhibitor subunit 14B pse HGNC:16331 PPP1R14BP4 protein phosphatase 1 regulatory inhibitor subunit 14B pseudogene 4 pseudogene pseudogene Approved 7p14.2 07p14.2 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 4 2001-08-08 2015-11-18 2020-04-07 94302 ENSG00000270889 OTTHUMG00000184662 NG_030051 11948623 PGOHUM00000232650 HGNC:16331 HGNC:16332 PPP1R14BP5 protein phosphatase 1 regulatory inhibitor subunit 14B pseudogene 5 pseudogene pseudogene Approved 6q22.32 06q22.32 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 5 2001-08-08 2015-11-18 2020-04-20 442256 ENSG00000213133 OTTHUMG00000015517 NG_030184 11948623 PGOHUM00000243351 HGNC:16332 HGNC:14952 PPP1R14C protein phosphatase 1 regulatory inhibitor subunit 14C protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "CPI17-like|NY-BR-81|KEPI" kinase C-enhanced PP1 inhibitor protein phosphatase 1, regulatory (inhibitor) subunit 14C Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2023-01-20 81706 ENSG00000198729 OTTHUMG00000015818 uc003qnt.4 AF308297 NM_030949 CCDS5226 Q8TAE6 11948623 MGI:1923392 RGD:620538 613242 HGNC:14952 "ENST00000361131.5|NM_030949.3" -HGNC:14953 PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "CPI17-like|FLJ20251|GBPI-1|MGC119014|MGC119016" "gut and brain phosphatase inhibitor 1|PKC-dependent PP1 inhibitory protein" protein phosphatase 1, regulatory (inhibitor) subunit 14D Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2023-01-20 54866 ENSG00000166143 OTTHUMG00000130064 uc001zmy.3 AK000258 NM_017726 "CCDS10066|CCDS45230" Q9NXH3 11948623 MGI:1919362 RGD:628891 613256 HGNC:14953 "ENST00000299174.10|NM_017726.8" +HGNC:14953 PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "CPI17-like|FLJ20251|GBPI-1|MGC119014|MGC119016" "gut and brain phosphatase inhibitor 1|PKC-dependent PP1 inhibitory protein" protein phosphatase 1, regulatory (inhibitor) subunit 14D Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2023-01-20 54866 ENSG00000166143 OTTHUMG00000130064 uc001zmy.3 AK000258 NM_017726 "CCDS45230|CCDS10066" Q9NXH3 11948623 MGI:1919362 RGD:628891 613256 HGNC:14953 "ENST00000299174.10|NM_017726.8" HGNC:14375 PPP1R15A protein phosphatase 1 regulatory subunit 15A protein-coding gene gene with protein product Approved 19q13.2 19q13.2 GADD34 growth arrest and DNA-damage-inducible 34 "protein phosphatase 1, regulatory (inhibitor) subunit 15A|protein phosphatase 1, regulatory subunit 15A" Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2023-01-20 23645 ENSG00000087074 OTTHUMG00000183330 uc002pky.5 U83981 NM_014330 CCDS12738 O75807 "9153226|9413226" MGI:1927072 RGD:621526 611048 HGNC:14375 "ENST00000200453.6|NM_014330.5" HGNC:14951 PPP1R15B protein phosphatase 1 regulatory subunit 15B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ14744 "protein phosphatase 1, regulatory (inhibitor) subunit 15B|protein phosphatase 1, regulatory subunit 15B" Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2023-01-20 84919 ENSG00000158615 OTTHUMG00000036105 uc001hav.5 AK027650 NM_032833 CCDS1445 Q5SWA1 11948623 MGI:2444211 RGD:1307944 613257 460842 HGNC:14951 "ENST00000367188.5|NM_032833.5" HGNC:14951 HGNC:55838 PPP1R15B-AS1 PPP1R15B and PIK3C2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 AL606489.1 Antisense RNAs 1987 2021-08-02 2023-01-09 122455336 ENSG00000226330 36531243 HGNC:14941 PPP1R16A protein phosphatase 1 regulatory subunit 16A protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "MGC14333|MYPT3" "protein phosphatase 1, regulatory (inhibitor) subunit 16A|protein phosphatase 1, regulatory subunit 16A" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 2001-06-29 2015-11-18 2023-01-20 84988 ENSG00000160972 OTTHUMG00000165173 uc003zdd.4 NM_032902 CCDS6429 Q96I34 11948623 MGI:1920312 RGD:1307962 609172 HGNC:14941 "ENST00000435887.2|NM_001329443.2" -HGNC:15850 PPP1R16B protein phosphatase 1 regulatory subunit 16B protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "KIAA0823|TIMAP|ANKRD4" "TGF-beta-inhibited membrane-associated protein|ankyrin repeat domain protein 4" "protein phosphatase 1, regulatory (inhibitor) subunit 16B|protein phosphatase 1, regulatory subunit 16B" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 2001-06-29 2015-11-18 2023-01-20 26051 ENSG00000101445 OTTHUMG00000032465 uc002xje.3 AB020630 NM_015568 "CCDS13309|CCDS54462" Q96T49 "10048485|12055102" MGI:2151841 RGD:1589460 613275 HGNC:15850 "ENST00000299824.6|NM_015568.4" -HGNC:16973 PPP1R17 protein phosphatase 1 regulatory subunit 17 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 GSBS G-substrate C7orf16 "chromosome 7 open reading frame 16|protein phosphatase 1, regulatory subunit 17" Protein phosphatase 1 regulatory subunits 694 2003-03-24 2011-10-11 2015-11-18 2023-01-20 10842 ENSG00000106341 OTTHUMG00000128629 uc003tcl.4 AF071789 NM_006658 "CCDS5436|CCDS47570" O96001 "10051666|9920894" MGI:1333876 RGD:628647 604088 HGNC:16973 "ENST00000342032.8|NM_006658.5" +HGNC:15850 PPP1R16B protein phosphatase 1 regulatory subunit 16B protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "KIAA0823|TIMAP|ANKRD4" "TGF-beta-inhibited membrane-associated protein|ankyrin repeat domain protein 4" "protein phosphatase 1, regulatory (inhibitor) subunit 16B|protein phosphatase 1, regulatory subunit 16B" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 2001-06-29 2015-11-18 2023-01-20 26051 ENSG00000101445 OTTHUMG00000032465 uc002xje.3 AB020630 NM_015568 "CCDS54462|CCDS13309" Q96T49 "10048485|12055102" MGI:2151841 RGD:1589460 613275 HGNC:15850 "ENST00000299824.6|NM_015568.4" +HGNC:16973 PPP1R17 protein phosphatase 1 regulatory subunit 17 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 GSBS G-substrate C7orf16 "chromosome 7 open reading frame 16|protein phosphatase 1, regulatory subunit 17" Protein phosphatase 1 regulatory subunits 694 2003-03-24 2011-10-11 2015-11-18 2023-01-20 10842 ENSG00000106341 OTTHUMG00000128629 uc003tcl.4 AF071789 NM_006658 "CCDS47570|CCDS5436" O96001 "10051666|9920894" MGI:1333876 RGD:628647 604088 HGNC:16973 "ENST00000342032.8|NM_006658.5" HGNC:29413 PPP1R18 protein phosphatase 1 regulatory subunit 18 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 phostensin protein phosphatase 1 F-actin cytoskeleton targeting subunit KIAA1949 "KIAA1949|protein phosphatase 1, regulatory subunit 18" Protein phosphatase 1 regulatory subunits 694 2004-03-02 2011-10-11 2015-11-18 2023-01-20 170954 ENSG00000146112 OTTHUMG00000031237 uc003nrb.4 AK097089 NM_133471 CCDS43444 Q6NYC8 11853319 MGI:1923698 RGD:1309543 610990 HGNC:29413 "ENST00000274853.8|NM_133471.4" -HGNC:30595 PPP1R21 protein phosphatase 1 regulatory subunit 21 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 FLJ16566 "CCDC128|KLRAQ1" "coiled-coil domain containing 128|KLRAQ motif containing 1|protein phosphatase 1, regulatory subunit 21" Protein phosphatase 1 regulatory subunits 694 2006-08-18 2011-10-11 2015-11-18 2023-03-15 129285 ENSG00000162869 OTTHUMG00000129167 uc002rwm.4 AY134855 NM_152994 "CCDS46278|CCDS54358|CCDS1839" Q6ZMI0 29808498 MGI:1921075 RGD:1565310 618159 HGNC:30595 "ENST00000294952.13|NM_001135629.3" +HGNC:30595 PPP1R21 protein phosphatase 1 regulatory subunit 21 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 FLJ16566 "CCDC128|KLRAQ1" "coiled-coil domain containing 128|KLRAQ motif containing 1|protein phosphatase 1, regulatory subunit 21" "Protein phosphatase 1 regulatory subunits|FERRY complex subunits" "694|2246" 2006-08-18 2011-10-11 2015-11-18 2023-06-09 129285 ENSG00000162869 OTTHUMG00000129167 uc002rwm.4 AY134855 NM_152994 "CCDS1839|CCDS54358|CCDS46278" Q6ZMI0 29808498 MGI:1921075 RGD:1565310 618159 HGNC:30595 "ENST00000294952.13|NM_001135629.3" HGNC:55206 PPP1R21-DT PPP1R21 divergent transcript non-coding RNA RNA, long non-coding Approved 2p16.3 02p16.3 Divergent transcripts 1990 2020-08-21 2020-08-21 118568827 ENSG00000272663 HGNC:29089 PPP1R26 protein phosphatase 1 regulatory subunit 26 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "DRIM/UTP20 interacting protein|1A6/DRIM (down-regulated in metastasis) interacting protein" KIAA0649 "KIAA0649|protein phosphatase 1, regulatory subunit 26" Protein phosphatase 1 regulatory subunits 694 2004-01-28 2011-10-11 2015-11-18 2023-01-20 9858 ENSG00000196422 OTTHUMG00000020904 uc064wyk.1 AB014549 NM_014811 CCDS6988 Q5T8A7 "9734811|16053918" MGI:2685193 RGD:1595050 614056 HGNC:29089 "ENST00000356818.7|NM_014811.5" HGNC:48717 PPP1R26-AS1 PPP1R26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 Antisense RNAs 1987 2013-06-07 2017-07-26 100506599 ENSG00000225361 OTTHUMG00000020905 NR_038969 28738804 PPP1R26-AS1 HGNC:48717 @@ -26510,28 +26513,28 @@ HGNC:41194 PPP1R35-AS1 PPP1R35 antisense RNA 1 non-coding RNA RNA, long non-codi HGNC:20097 PPP1R36 protein phosphatase 1 regulatory subunit 36 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 C14orf50 "chromosome 14 open reading frame 50|protein phosphatase 1, regulatory subunit 36" Protein phosphatase 1 regulatory subunits 694 2002-12-18 2011-10-11 2015-11-18 2023-01-20 145376 ENSG00000165807 OTTHUMG00000141316 uc001xhl.1 NM_172365 CCDS9767 Q96LQ0 MGI:2684916 RGD:1309051 619923 HGNC:20097 "ENST00000298705.6|NM_172365.3" HGNC:20097 HGNC:27607 PPP1R37 protein phosphatase 1 regulatory subunit 37 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 LRRC68 "leucine rich repeat containing 68|protein phosphatase 1, regulatory subunit 37" Protein phosphatase 1 regulatory subunits 694 2008-06-11 2011-10-11 2015-11-18 2023-01-20 284352 ENSG00000104866 OTTHUMG00000168143 uc021uvs.2 BC035704 NM_173634 CCDS56096 O75864 12477932 MGI:2687042 RGD:1595870 HGNC:27607 "ENST00000221462.9|NM_019121.2" HGNC:33732 PPP1R42 protein phosphatase 1 regulatory subunit 42 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "dtr|TLLR" testis leucine-rich repeat LRRC67 "leucine rich repeat containing 67|protein phosphatase 1, regulatory subunit 42" Protein phosphatase 1 regulatory subunits 694 2008-06-11 2011-10-11 2015-11-18 2023-01-20 286187 ENSG00000178125 OTTHUMG00000164745 uc003xxc.4 BC055413 NM_001013626 "CCDS94299|CCDS34902" Q7Z4L9 MGI:1921138 RGD:1585679 617720 HGNC:33732 "ENST00000685739.1|NM_001364910.1" -HGNC:9299 PPP2CA protein phosphatase 2 catalytic subunit alpha protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "PP2Calpha|PP2AC" protein phosphatase 2A catalytic subunit, alpha isoform "protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform|protein phosphatase 2, catalytic subunit, alpha isozyme" "Protein phosphatase catalytic subunits|STRIPAK complex" "693|1371" 1992-11-10 2016-02-10 2023-01-20 5515 ENSG00000113575 OTTHUMG00000129119 uc003kze.4 NM_002715 "CCDS4173|CCDS93781" P67775 8383590 MGI:1321159 RGD:3380 176915 3.1.3.16 HGNC:9299 "ENST00000481195.6|NM_002715.4" HGNC:9299 +HGNC:9299 PPP2CA protein phosphatase 2 catalytic subunit alpha protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "PP2Calpha|PP2AC" protein phosphatase 2A catalytic subunit, alpha isoform "protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform|protein phosphatase 2, catalytic subunit, alpha isozyme" "Protein phosphatase catalytic subunits|STRIPAK complex" "693|1371" 1992-11-10 2016-02-10 2023-01-20 5515 ENSG00000113575 OTTHUMG00000129119 uc003kze.4 NM_002715 "CCDS93781|CCDS4173" P67775 8383590 MGI:1321159 RGD:3380 176915 3.1.3.16 HGNC:9299 "ENST00000481195.6|NM_002715.4" HGNC:9299 HGNC:55266 PPP2CA-DT PPP2CA divergent transcript non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 Divergent transcripts 1990 2020-09-29 2020-09-29 118732304 ENSG00000270177 HGNC:9300 PPP2CB protein phosphatase 2 catalytic subunit beta protein-coding gene gene with protein product Approved 8p12 08p12 PP2Abeta protein phosphatase 2A catalytic subunit, beta isoform "protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform|protein phosphatase 2, catalytic subunit, beta isozyme" "Protein phosphatase catalytic subunits|STRIPAK complex" "693|1371" 1992-11-10 2016-02-10 2023-01-20 5516 ENSG00000104695 OTTHUMG00000163949 uc003xik.4 NM_001009552 CCDS6079 P62714 8383590 MGI:1321161 RGD:3381 176916 3.1.3.16 HGNC:9300 "ENST00000221138.9|NM_001009552.2" HGNC:9301 PPP2CBP1 protein phosphatase 2 catalytic subunit beta pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 PPP2CBP "protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform pseudogene|protein phosphatase 2, catalytic subunit, beta isozyme pseudogene|protein phosphatase 2, catalytic subunit, beta isozyme pseudogene 1" 1992-11-10 2010-03-17 2016-02-10 2016-02-10 5517 NG_004793 8383590 PGOHUM00000249065 HGNC:9301 -HGNC:9302 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "PR65A|PP2A-Aalpha|PP2AA" "protein phosphatase 2A, regulatory subunit A, alpha isoform|protein phosphatase 2, 65kDa regulatory subunit A|protein phosphatase 2A structural subunit A, alpha isoform|Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform" protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform "Protein phosphatase 2 scaffold subunits|STRIPAK complex|Armadillo like helical domain containing|MicroRNA protein coding host genes" "1266|1371|1492|1691" 1993-01-25 2016-05-13 2023-03-01 5518 ENSG00000105568 OTTHUMG00000137367 uc002pyp.4 NM_014225 "CCDS86798|CCDS12849" P30153 "2159327|35593790" MGI:1926334 RGD:620907 PPP2R1A 605983 460669 HGNC:9302 "ENST00000322088.11|NM_014225.6" HGNC:9302 -HGNC:9303 PPP2R1B protein phosphatase 2 scaffold subunit Abeta protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "PR65B|PP2A-Abeta" "PP2A-A-beta|protein phosphatase 2A, regulatory subunit A, beta isoform" "protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform|protein phosphatase 2 regulatory subunit A, beta" "Protein phosphatase 2 scaffold subunits|STRIPAK complex|Armadillo like helical domain containing" "1266|1371|1492" 1993-01-25 2016-05-13 2023-01-20 5519 ENSG00000137713 OTTHUMG00000166741 uc001plw.2 AF087438 NM_002716 "CCDS53708|CCDS53707|CCDS53706|CCDS8349|CCDS8348" P30154 "2159327|9795170" MGI:1920949 RGD:1304764 603113 3.1.3.16 HGNC:9303 "ENST00000527614.6|NM_002716.5" +HGNC:9302 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "PR65A|PP2A-Aalpha|PP2AA" "protein phosphatase 2A, regulatory subunit A, alpha isoform|protein phosphatase 2, 65kDa regulatory subunit A|protein phosphatase 2A structural subunit A, alpha isoform|Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform" protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform "Protein phosphatase 2 scaffold subunits|STRIPAK complex|Armadillo like helical domain containing|MicroRNA protein coding host genes" "1266|1371|1492|1691" 1993-01-25 2016-05-13 2023-03-01 5518 ENSG00000105568 OTTHUMG00000137367 uc002pyp.4 NM_014225 "CCDS12849|CCDS86798" P30153 "2159327|35593790" MGI:1926334 RGD:620907 PPP2R1A 605983 460669 HGNC:9302 "ENST00000322088.11|NM_014225.6" HGNC:9302 +HGNC:9303 PPP2R1B protein phosphatase 2 scaffold subunit Abeta protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "PR65B|PP2A-Abeta" "PP2A-A-beta|protein phosphatase 2A, regulatory subunit A, beta isoform" "protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform|protein phosphatase 2 regulatory subunit A, beta" "Protein phosphatase 2 scaffold subunits|STRIPAK complex|Armadillo like helical domain containing" "1266|1371|1492" 1993-01-25 2016-05-13 2023-01-20 5519 ENSG00000137713 OTTHUMG00000166741 uc001plw.2 AF087438 NM_002716 "CCDS53706|CCDS8349|CCDS8348|CCDS53708|CCDS53707" P30154 "2159327|9795170" MGI:1920949 RGD:1304764 603113 3.1.3.16 HGNC:9303 "ENST00000527614.6|NM_002716.5" HGNC:9304 PPP2R2A protein phosphatase 2 regulatory subunit Balpha protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "PR52A|PR55A|B55A|PR55alpha|B55alpha" PP2A subunit B isoform alpha protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform "WD repeat domain containing|Protein phosphatase 2 regulatory subunits" "362|696" 1993-01-25 2016-05-13 2023-01-20 5520 ENSG00000221914 OTTHUMG00000163850 uc003xeu.4 M64929 NM_002717 "CCDS55213|CCDS34867" P63151 1849734 MGI:1919228 RGD:620919 604941 3.1.3.16 HGNC:9304 "ENST00000380737.8|NM_002717.4" -HGNC:9305 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta protein-coding gene gene with protein product Approved 5q32 05q32 "PR55-BETA|PR52B|B55beta" PP2A subunit B isoform beta SCA12 "spinocerebellar ataxia 12|protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform" "WD repeat domain containing|Protein phosphatase 2 regulatory subunits" "362|696" 1993-01-25 2016-05-13 2023-01-20 5521 ENSG00000156475 OTTHUMG00000163381 uc003loe.6 M64930 NM_181678 "CCDS43380|CCDS64281|CCDS4283|CCDS4284|CCDS64282|CCDS93800" Q00005 "1849734|10581021" MGI:1920180 RGD:631441 604325 117973 3.1.3.16 HGNC:9305 "ENST00000394411.9|NM_181675.4" HGNC:9305 +HGNC:9305 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta protein-coding gene gene with protein product Approved 5q32 05q32 "PR55-BETA|PR52B|B55beta" PP2A subunit B isoform beta SCA12 "spinocerebellar ataxia 12|protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform" "WD repeat domain containing|Protein phosphatase 2 regulatory subunits" "362|696" 1993-01-25 2016-05-13 2023-01-20 5521 ENSG00000156475 OTTHUMG00000163381 uc003loe.6 M64930 NM_181678 "CCDS43380|CCDS64281|CCDS4284|CCDS64282|CCDS4283|CCDS93800" Q00005 "1849734|10581021" MGI:1920180 RGD:631441 604325 117973 3.1.3.16 HGNC:9305 "ENST00000394411.9|NM_181675.4" HGNC:9305 HGNC:42984 PPP2R2B-IT1 PPP2R2B intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q32 05q32 PPP2R2B intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-09-14 2015-02-25 2015-02-25 100874361 ENSG00000249553 OTTHUMG00000129687 uc031slr.1 NR_047115 PPP2R2B-IT1 HGNC:42984 -HGNC:9306 PPP2R2C protein phosphatase 2 regulatory subunit Bgamma protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "PR52|IMYPNO|MGC33570|PR55G|B55gamma" PP2A subunit B isoform gamma protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform "WD repeat domain containing|Protein phosphatase 2 regulatory subunits" "362|696" 1993-01-25 2016-05-13 2023-01-20 5522 ENSG00000074211 OTTHUMG00000090445 uc003gjc.4 AF086924 NM_181876 "CCDS3388|CCDS3387|CCDS56304|CCDS56305" Q9Y2T4 "10574460|10945473" MGI:2442660 RGD:620920 605997 3.1.3.16 HGNC:9306 "ENST00000382599.9|NM_020416.4" +HGNC:9306 PPP2R2C protein phosphatase 2 regulatory subunit Bgamma protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "PR52|IMYPNO|MGC33570|PR55G|B55gamma" PP2A subunit B isoform gamma protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform "WD repeat domain containing|Protein phosphatase 2 regulatory subunits" "362|696" 1993-01-25 2016-05-13 2023-01-20 5522 ENSG00000074211 OTTHUMG00000090445 uc003gjc.4 AF086924 NM_181876 "CCDS56305|CCDS56304|CCDS3388|CCDS3387" Q9Y2T4 "10574460|10945473" MGI:2442660 RGD:620920 605997 3.1.3.16 HGNC:9306 "ENST00000382599.9|NM_020416.4" HGNC:23732 PPP2R2D protein phosphatase 2 regulatory subunit Bdelta protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "MDS026|B55delta|B55D" PP2A subunit B isoform delta protein phosphatase 2, regulatory subunit B, delta isoform "WD repeat domain containing|Protein phosphatase 2 regulatory subunits" "362|696" 2003-12-04 2016-05-13 2023-03-15 55844 ENSG00000175470 OTTHUMG00000019277 uc031wxk.2 AF220046 NM_018461 CCDS73224 Q66LE6 10819331 MGI:1289252 RGD:708356 613992 HGNC:23732 "ENST00000455566.6|NM_018461.5" HGNC:44544 PPP2R2DP1 protein phosphatase 2 regulatory subunit Bdelta pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 "protein phosphatase 2, regulatory subunit B, delta pseudogene 1|protein phosphatase 2 regulatory subunit B, delta pseudogene 1" 2012-11-15 2017-04-05 2017-04-05 100327036 ENSG00000231668 OTTHUMG00000155979 NG_016292 PGOHUM00000237997 HGNC:44544 -HGNC:9307 PPP2R3A protein phosphatase 2 regulatory subunit B''alpha protein-coding gene gene with protein product Approved 3q22.2-q22.3 03q22.2-q22.3 "PR130|PR72" "PR130/B''alpha1 subunit|PR72/B''alpha2 subuit" PPP2R3 protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform "Protein phosphatase 2 regulatory subunits|EF-hand domain containing" "696|863" 1993-01-25 2002-04-26 2016-05-13 2023-01-20 5523 ENSG00000073711 OTTHUMG00000159766 uc003eqv.3 L12146 NM_002718 "CCDS54642|CCDS3087|CCDS3088" Q06190 8392071 MGI:2442104 RGD:1306958 604944 3.1.3.16 HGNC:9307 "ENST00000264977.8|NM_002718.5" +HGNC:9307 PPP2R3A protein phosphatase 2 regulatory subunit B''alpha protein-coding gene gene with protein product Approved 3q22.2-q22.3 03q22.2-q22.3 "PR130|PR72" "PR130/B''alpha1 subunit|PR72/B''alpha2 subuit" PPP2R3 protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform "Protein phosphatase 2 regulatory subunits|EF-hand domain containing" "696|863" 1993-01-25 2002-04-26 2016-05-13 2023-01-20 5523 ENSG00000073711 OTTHUMG00000159766 uc003eqv.3 L12146 NM_002718 "CCDS54642|CCDS3088|CCDS3087" Q06190 8392071 MGI:2442104 RGD:1306958 604944 3.1.3.16 HGNC:9307 "ENST00000264977.8|NM_002718.5" HGNC:13417 PPP2R3B protein phosphatase 2 regulatory subunit B''beta protein-coding gene gene with protein product Approved Xp22.3 and Yp11.3 Xp22.3 and Yp11.3 "PPP2R3LY|PR48|PR70" PPP2R3L protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta "Protein phosphatase 2 regulatory subunits|Pseudoautosomal region 1|EF-hand domain containing" "696|715|863" 2002-04-19 2016-05-13 2023-03-15 28227 ENSG00000167393 OTTHUMG00000021052 uc004fot.4 AF215840 NM_013239 CCDS14104 Q9Y5P8 11173861 MGI:1335093 RGD:1588134 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PPP2R3B 300339 HGNC:13417 "ENST00000390665.9|NM_013239.5" HGNC:17485 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "FLJ20644|G4-1|G5PR" C14orf10 "chromosome 14 open reading frame 10|protein phosphatase 2 (formerly 2A), regulatory subunit B''" Protein phosphatase 2 regulatory subunits 696 2002-11-18 2007-01-22 2017-04-05 2023-01-20 55012 ENSG00000092020 OTTHUMG00000140224 uc001wss.4 AK000651 NM_017917 CCDS9654 Q969Q6 "12167160|16129705" MGI:1930009 RGD:1309207 615902 HGNC:17485 "ENST00000261475.10|NM_017917.4" -HGNC:9309 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "PR61A|B56A|B56alpha" protein phosphatase 2, regulatory subunit B (B56), alpha isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes" "696|1492|1835" 1996-05-08 2016-05-13 2023-01-20 5525 ENSG00000066027 OTTHUMG00000036750 uc001hjb.3 BC022474 NM_006243 "CCDS55686|CCDS1503" Q15172 7592815 MGI:2388479 RGD:1308022 601643 HGNC:9309 "ENST00000261461.7|NM_006243.4" +HGNC:9309 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "PR61A|B56A|B56alpha" protein phosphatase 2, regulatory subunit B (B56), alpha isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes" "696|1492|1835" 1996-05-08 2016-05-13 2023-01-20 5525 ENSG00000066027 OTTHUMG00000036750 uc001hjb.3 BC022474 NM_006243 "CCDS1503|CCDS55686" Q15172 7592815 MGI:2388479 RGD:1308022 601643 HGNC:9309 "ENST00000261461.7|NM_006243.4" HGNC:9310 PPP2R5B protein phosphatase 2 regulatory subunit B'beta protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FLJ35411|B56B|PR61B|B56beta" "PP2A, B subunit, B' beta isoform|PP2A, B subunit, B56 beta isoform|PP2A, B subunit, PR61 beta isoform|PP2A, B subunit, R5 beta isoform|serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform" protein phosphatase 2, regulatory subunit B (B56), beta isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing" "696|1492" 1996-05-08 2016-05-13 2023-01-20 5526 ENSG00000068971 OTTHUMG00000150043 uc001oby.4 L42374 NM_006244 CCDS8085 Q15173 7592815 MGI:2388480 RGD:727786 601644 HGNC:9310 "ENST00000164133.7|NM_006244.4" -HGNC:9311 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "B56G|PR61G|B56gamma" protein phosphatase 2, regulatory subunit B (B56), gamma isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing" "696|1492" 1996-05-08 2016-05-13 2023-01-20 5527 ENSG00000078304 OTTHUMG00000171597 uc001yko.4 L42375 NM_002719 "CCDS45163|CCDS9965|CCDS91934|CCDS53911|CCDS9964|CCDS53912" Q13362 7592815 MGI:1349475 RGD:1585097 601645 HGNC:9311 "ENST00000694906.1|NM_001352913.2" +HGNC:9311 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "B56G|PR61G|B56gamma" protein phosphatase 2, regulatory subunit B (B56), gamma isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing" "696|1492" 1996-05-08 2016-05-13 2023-01-20 5527 ENSG00000078304 OTTHUMG00000171597 uc001yko.4 L42375 NM_002719 "CCDS45163|CCDS9965|CCDS91934|CCDS9964|CCDS53912|CCDS53911" Q13362 7592815 MGI:1349475 RGD:1585097 601645 HGNC:9311 "ENST00000694906.1|NM_001352913.2" HGNC:17835 PPP2R5CP protein phosphatase 2 regulatory subunit B'gamma pseudogene pseudogene pseudogene Approved 3p21.1 03p21.1 "protein phosphatase 2, regulatory subunit B (B56), gamma isoform pseudogene|protein phosphatase 2, regulatory subunit B', gamma isoform pseudogene|protein phosphatase 2, regulatory subunit B', gamma pseudogene|protein phosphatase 2 regulatory subunit B', gamma pseudogene" 2002-01-18 2017-04-05 2020-04-07 140921 ENSG00000239557 OTTHUMG00000158377 AF411591 NG_001307 PGOHUM00000299440 HGNC:17835 -HGNC:9312 PPP2R5D protein phosphatase 2 regulatory subunit B'delta protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "B56D|B56delta" Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform protein phosphatase 2, regulatory subunit B (B56), delta isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing" "696|1492" 1996-05-08 2016-05-13 2023-03-01 5528 ENSG00000112640 OTTHUMG00000014716 uc003oth.5 L76702 NM_006245 "CCDS4878|CCDS43464|CCDS55002" Q14738 "7592815|26576547" MGI:2388481 RGD:1306666 601646 460676 HGNC:9312 "ENST00000485511.6|NM_006245.4" HGNC:9312 +HGNC:9312 PPP2R5D protein phosphatase 2 regulatory subunit B'delta protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "B56D|B56delta" Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform protein phosphatase 2, regulatory subunit B (B56), delta isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing" "696|1492" 1996-05-08 2016-05-13 2023-03-01 5528 ENSG00000112640 OTTHUMG00000014716 uc003oth.5 L76702 NM_006245 "CCDS43464|CCDS55002|CCDS4878" Q14738 "7592815|26576547" MGI:2388481 RGD:1306666 601646 460676 HGNC:9312 "ENST00000485511.6|NM_006245.4" HGNC:9312 HGNC:9313 PPP2R5E protein phosphatase 2 regulatory subunit B'epsilon protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "B56E|B56epsilon" protein phosphatase 2, regulatory subunit B (B56), epsilon isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing" "696|1492" 1996-05-08 2016-05-13 2023-01-20 5529 ENSG00000154001 OTTHUMG00000140341 uc001xgd.3 L76703 NM_006246 "CCDS9758|CCDS61468|CCDS61467" Q16537 7592815 MGI:1349473 RGD:1305657 601647 HGNC:9313 "ENST00000337537.8|NM_006246.5" -HGNC:9314 PPP3CA protein phosphatase 3 catalytic subunit alpha protein-coding gene gene with protein product Approved 4q24 04q24 "CNA1|PPP2B" "calcineurin A alpha|protein phosphatase 2B, catalytic subunit, alpha isoform" "CALN|CALNA" "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)|protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform|protein phosphatase 3, catalytic subunit, alpha isozyme" "Protein phosphatase catalytic subunits|MicroRNA protein coding host genes" "693|1691" 1990-06-26 2016-02-10 2023-01-20 5530 ENSG00000138814 OTTHUMG00000133839 uc011cen.2 NM_000944 "CCDS47113|CCDS34037|CCDS47114" Q08209 "2848250|1659808" MGI:107164 RGD:3382 114105 3.1.3.16 HGNC:9314 "ENST00000394854.8|NM_000944.5" HGNC:9314 +HGNC:9314 PPP3CA protein phosphatase 3 catalytic subunit alpha protein-coding gene gene with protein product Approved 4q24 04q24 "CNA1|PPP2B" "calcineurin A alpha|protein phosphatase 2B, catalytic subunit, alpha isoform" "CALN|CALNA" "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)|protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform|protein phosphatase 3, catalytic subunit, alpha isozyme" "Protein phosphatase catalytic subunits|MicroRNA protein coding host genes" "693|1691" 1990-06-26 2016-02-10 2023-01-20 5530 ENSG00000138814 OTTHUMG00000133839 uc011cen.2 NM_000944 "CCDS34037|CCDS47114|CCDS47113" Q08209 "2848250|1659808" MGI:107164 RGD:3382 114105 3.1.3.16 HGNC:9314 "ENST00000394854.8|NM_000944.5" HGNC:9314 HGNC:9315 PPP3CB protein phosphatase 3 catalytic subunit beta protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "CALNA2|CNA2|PP2Bbeta" "calcineurin A beta|protein phosphatase 2B, catalytic subunit, beta isoform" CALNB "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)|protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform|protein phosphatase 3, catalytic subunit, beta isozyme" Protein phosphatase catalytic subunits 693 1992-11-09 2016-02-10 2023-01-20 5532 ENSG00000107758 OTTHUMG00000018472 uc001jue.4 M29551 NM_021132 "CCDS44436|CCDS7328|CCDS44437" P16298 "1659808|2558868" MGI:107163 RGD:3383 114106 3.1.3.16 HGNC:9315 "ENST00000360663.10|NM_021132.4" HGNC:50750 PPP3CB-AS1 PPP3CB antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 USP54-AS1 Antisense RNAs 1987 2014-06-16 2014-06-16 101929145 ENSG00000221817 OTTHUMG00000018470 NR_132103 PPP3CB-AS1 HGNC:50750 HGNC:9316 PPP3CC protein phosphatase 3 catalytic subunit gamma protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "CALNA3|PP2Bgamma" "calcineurin A gamma|protein phosphatase 2B, catalytic subunit, gamma isoform" "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)|protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform|protein phosphatase 3, catalytic subunit, gamma isozyme" Protein phosphatase catalytic subunits 693 1993-01-22 2016-02-10 2023-01-20 5533 ENSG00000120910 OTTHUMG00000163802 uc003xbs.4 NM_005605 "CCDS59093|CCDS59094|CCDS34859" P48454 1339277 MGI:107162 RGD:621616 114107 3.1.3.16 HGNC:9316 "ENST00000240139.10|NM_005605.5" HGNC:9316 @@ -26548,30 +26551,30 @@ HGNC:56515 PPP4R2P3 PPP4R2 pseudogene 3 pseudogene pseudogene Approved 3q29 03q2 HGNC:56516 PPP4R2P4 PPP4R2 pseudogene 4 pseudogene pseudogene Approved 3q29 03q29 2022-10-28 2022-10-28 100131868 ENSG00000249626 NG_028746 PGOHUM00000299714 HGNC:56517 PPP4R2P5 PPP4R2 pseudogene 5 pseudogene pseudogene Approved 5p15.33 05p15.33 2022-10-28 2022-10-28 124901187 ENSG00000232615 PGOHUM00000300862 HGNC:56518 PPP4R2P6 PPP4R2 pseudogene 6 pseudogene pseudogene Approved 3q29 03q29 2022-10-28 2022-10-28 127460884 ENSG00000271662 PGOHUM00000299315 -HGNC:20219 PPP4R3A protein phosphatase 4 regulatory subunit 3A protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "FLJ20707|MSTP033|FLFL1|smk-1|smk1|PP4R3" "KIAA2010|SMEK1" "KIAA2010|SMEK homolog 1, suppressor of mek1 (Dictyostelium)|protein phosphatase 4, regulatory subunit 3A" Armadillo like helical domain containing 1492 2003-11-21 2015-06-26 2015-11-17 2023-03-15 55671 ENSG00000100796 OTTHUMG00000171102 AK000714 NM_032560 "CCDS91918|CCDS61532|CCDS9895" Q6IN85 "16085932|18487071" MGI:1915984 RGD:1309059 610351 HGNC:20219 "ENST00000554943.6|NM_001366432.2" -HGNC:29267 PPP4R3B protein phosphatase 4 regulatory subunit 3B protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "PSY2|FLFL2|KIAA1387|FLJ31474" SMEK2 "SMEK homolog 2, suppressor of mek1 (Dictyostelium)|protein phosphatase 4, regulatory subunit 3B" Armadillo like helical domain containing 1492 2006-10-12 2015-06-26 2015-11-17 2023-01-20 57223 ENSG00000275052 OTTHUMG00000129336 AB037808 NM_020463 "CCDS1855|CCDS46289|CCDS62913" Q5MIZ7 "16085932|18614045" MGI:2144474 RGD:1309450 610352 HGNC:29267 "ENST00000616407.2|NM_001122964.3" +HGNC:20219 PPP4R3A protein phosphatase 4 regulatory subunit 3A protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "FLJ20707|MSTP033|FLFL1|smk-1|smk1|PP4R3" "KIAA2010|SMEK1" "KIAA2010|SMEK homolog 1, suppressor of mek1 (Dictyostelium)|protein phosphatase 4, regulatory subunit 3A" Armadillo like helical domain containing 1492 2003-11-21 2015-06-26 2015-11-17 2023-03-15 55671 ENSG00000100796 OTTHUMG00000171102 AK000714 NM_032560 "CCDS9895|CCDS91918|CCDS61532" Q6IN85 "16085932|18487071" MGI:1915984 RGD:1309059 610351 HGNC:20219 "ENST00000554943.6|NM_001366432.2" +HGNC:29267 PPP4R3B protein phosphatase 4 regulatory subunit 3B protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "PSY2|FLFL2|KIAA1387|FLJ31474" SMEK2 "SMEK homolog 2, suppressor of mek1 (Dictyostelium)|protein phosphatase 4, regulatory subunit 3B" Armadillo like helical domain containing 1492 2006-10-12 2015-06-26 2015-11-17 2023-01-20 57223 ENSG00000275052 OTTHUMG00000129336 AB037808 NM_020463 "CCDS1855|CCDS62913|CCDS46289" Q5MIZ7 "16085932|18614045" MGI:2144474 RGD:1309450 610352 HGNC:29267 "ENST00000616407.2|NM_001122964.3" HGNC:55209 PPP4R3B-DT PPP4R3B divergent transcript non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 Divergent transcripts 1990 2020-08-21 2020-08-21 107985885 ENSG00000272606 HGNC:33146 PPP4R3C protein phosphatase 4 regulatory subunit 3C protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 "FLJ32867|FLFL3P|smk1" "SMEK3P|PPP4R3CP" "SMEK homolog 3, suppressor of mek1 (Dictyostelium) pseudogene|protein phosphatase 4, regulatory subunit 3C, pseudogene" Armadillo like helical domain containing 1492 2006-10-12 2017-08-14 2017-08-14 2023-01-20 139420 ENSG00000224960 OTTHUMG00000021300 NM_207319 CCDS87732 Q6ZMV5 "MGI:3588286|MGI:3588287" RGD:1559817 PGOHUM00000304537 HGNC:33146 "ENST00000412172.4|NM_207319.4" HGNC:23788 PPP4R4 protein phosphatase 4 regulatory subunit 4 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "PP4R4|CFAP14" cilia and flagella associated protein 14 KIAA1622 KIAA1622 "Protein phosphatase 4 regulatory subunits|Cilia and flagella associated|Armadillo like helical domain containing" "698|1491|1492" 2003-12-10 2008-09-16 2016-07-01 2023-01-20 57718 ENSG00000119698 OTTHUMG00000171344 uc001ycs.1 "AB046842|BC068491" NM_058237 "CCDS9921|CCDS9922" Q6NUP7 18715871 MGI:1921771 RGD:1560932 616790 HGNC:23788 "ENST00000304338.8|NM_058237.2" HGNC:9322 PPP5C protein phosphatase 5 catalytic subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 PP5 PPP5 protein phosphatase 5, catalytic subunit "Protein phosphatase catalytic subunits|Tetratricopeptide repeat domain containing" "693|769" 1993-02-05 2016-02-10 2023-01-20 5536 ENSG00000011485 OTTHUMG00000134287 uc002pem.4 NM_006247 CCDS12684 P53041 "8666404|9195923" MGI:102666 RGD:68415 600658 3.1.3.16 HGNC:9322 "ENST00000012443.9|NM_006247.4" HGNC:44209 PPP5D1P PPP5 tetratricopeptide repeat domain containing 1, pseudogene pseudogene pseudogene Approved 19q13.32 19q13.32 PPP5D1 PPP5 tetratricopeptide repeat domain containing 1 2012-07-20 2021-04-16 2021-04-16 2023-03-15 100506012 ENSG00000230510 OTTHUMG00000183425 uc061agc.1 NR_172902 HGNC:44209 -HGNC:9323 PPP6C protein phosphatase 6 catalytic subunit protein-coding gene gene with protein product Approved 9q33.3 09q33.3 PP6 protein phosphatase 6, catalytic subunit Protein phosphatase catalytic subunits 693 1996-12-19 2016-02-10 2023-01-20 5537 ENSG00000119414 OTTHUMG00000020671 uc004bpg.5 AF035158 NM_016294 "CCDS6861|CCDS48019|CCDS48018" O00743 9143513 MGI:1915107 RGD:708460 PPP6C 612725 HGNC:9323 "ENST00000373547.9|NM_002721.5" +HGNC:9323 PPP6C protein phosphatase 6 catalytic subunit protein-coding gene gene with protein product Approved 9q33.3 09q33.3 PP6 protein phosphatase 6, catalytic subunit Protein phosphatase catalytic subunits 693 1996-12-19 2016-02-10 2023-01-20 5537 ENSG00000119414 OTTHUMG00000020671 uc004bpg.5 AF035158 NM_016294 "CCDS48019|CCDS48018|CCDS6861" O00743 9143513 MGI:1915107 RGD:708460 PPP6C 612725 HGNC:9323 "ENST00000373547.9|NM_002721.5" HGNC:34077 PPP6CP protein phosphatase 6 catalytic subunit pseudogene pseudogene pseudogene Approved Xq22.3 Xq22.3 protein phosphatase 6, catalytic subunit pseudogene 2008-04-17 2016-02-10 2016-02-10 100144631 NG_007543 HGNC:34077 HGNC:29195 PPP6R1 protein phosphatase 6 regulatory subunit 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SAP190 "KIAA1115|SAPS1" "KIAA1115|SAPS domain family, member 1|protein phosphatase 6, regulatory subunit 1" "Protein phosphatase 6 regulatory subunits|MicroRNA protein coding host genes" "699|1691" 2004-02-10 2010-06-28 2015-11-18 2023-01-20 22870 ENSG00000105063 OTTHUMG00000180704 uc002qjw.5 AB029038 NM_014931 CCDS46186 Q9UPN7 16769727 MGI:2442163 RGD:1311409 610875 HGNC:29195 "ENST00000412770.7|NM_014931.4" -HGNC:19253 PPP6R2 protein phosphatase 6 regulatory subunit 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "dJ579N16.1|SAP190" "KIAA0685|SAPS2" "KIAA0685|SAPS domain family, member 2|protein phosphatase 6, regulatory subunit 2" "Protein phosphatase 6 regulatory subunits|Armadillo like helical domain containing" "699|1492" 2003-11-21 2010-06-28 2015-11-18 2023-01-20 9701 ENSG00000100239 OTTHUMG00000150199 uc003bkz.3 AB014585 NM_014678 "CCDS56236|CCDS56235|CCDS93184|CCDS33681|CCDS74881" O75170 16769727 MGI:1918724 RGD:1563990 610877 HGNC:19253 "ENST00000612753.5|NM_001242898.2" +HGNC:19253 PPP6R2 protein phosphatase 6 regulatory subunit 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "dJ579N16.1|SAP190" "KIAA0685|SAPS2" "KIAA0685|SAPS domain family, member 2|protein phosphatase 6, regulatory subunit 2" "Protein phosphatase 6 regulatory subunits|Armadillo like helical domain containing" "699|1492" 2003-11-21 2010-06-28 2015-11-18 2023-01-20 9701 ENSG00000100239 OTTHUMG00000150199 uc003bkz.3 AB014585 NM_014678 "CCDS56236|CCDS74881|CCDS93184|CCDS56235|CCDS33681" O75170 16769727 MGI:1918724 RGD:1563990 610877 HGNC:19253 "ENST00000612753.5|NM_001242898.2" HGNC:39605 PPP6R2P1 protein phosphatase 6 regulatory subunit 2 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 protein phosphatase 6, regulatory subunit 2 pseudogene 1 2011-03-17 2015-11-18 2015-11-18 100631381 ENSG00000233442 OTTHUMG00000074233 NG_029318 PGOHUM00000239142 HGNC:39605 -HGNC:1173 PPP6R3 protein phosphatase 6 regulatory subunit 3 protein-coding gene gene with protein product Approved 11q13 11q13 "SAPLa|DKFZp781E2374|DKFZp781O2362|DKFZp781E17107|SAP190|SAPL|PP6R3|FLJ11058|FLJ43065|KIAA1558|MGC125711|MGC125712" sporulation-induced transcript 4-associated protein "C11orf23|SAPS3" "chromosome 11 open reading frame 23|SAPS domain family, member 3|protein phosphatase 6, regulatory subunit 3" "Protein phosphatase 6 regulatory subunits|Armadillo like helical domain containing" "699|1492" 2000-05-23 2010-06-28 2015-11-18 2023-01-20 55291 ENSG00000110075 OTTHUMG00000167596 uc001onw.4 AF264779 NM_018312 "CCDS53675|CCDS91521|CCDS53672|CCDS53671|CCDS8182|CCDS53674|CCDS53673" Q5H9R7 "11401438|16769727" MGI:1921807 RGD:1307145 610879 HGNC:1173 "ENST00000393800.7|NM_001164161.2" +HGNC:1173 PPP6R3 protein phosphatase 6 regulatory subunit 3 protein-coding gene gene with protein product Approved 11q13 11q13 "SAPLa|DKFZp781E2374|DKFZp781O2362|DKFZp781E17107|SAP190|SAPL|PP6R3|FLJ11058|FLJ43065|KIAA1558|MGC125711|MGC125712" sporulation-induced transcript 4-associated protein "C11orf23|SAPS3" "chromosome 11 open reading frame 23|SAPS domain family, member 3|protein phosphatase 6, regulatory subunit 3" "Protein phosphatase 6 regulatory subunits|Armadillo like helical domain containing" "699|1492" 2000-05-23 2010-06-28 2015-11-18 2023-01-20 55291 ENSG00000110075 OTTHUMG00000167596 uc001onw.4 AF264779 NM_018312 "CCDS91521|CCDS53675|CCDS53672|CCDS53673|CCDS8182|CCDS53671|CCDS53674" Q5H9R7 "11401438|16769727" MGI:1921807 RGD:1307145 610879 HGNC:1173 "ENST00000393800.7|NM_001164161.2" HGNC:30025 PPRC1 PPARG related coactivator 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "PRC|KIAA0595|MGC74642" pgc-1 related coactivator peroxisome proliferative activated receptor, gamma, coactivator-related 1 RNA binding motif containing 725 2004-02-19 2019-02-28 2023-01-20 23082 ENSG00000148840 OTTHUMG00000018948 uc001kum.5 AF325193 NM_015062 "CCDS7529|CCDS73186" Q5VV67 "9628581|11340167" MGI:2385096 RGD:1309688 617462 HGNC:30025 "ENST00000278070.7|NM_015062.5" HGNC:9325 PPT1 palmitoyl-protein thioesterase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "CLN1|INCL" ceroid-lipofuscinosis, neuronal 1, infantile PPT Depalmitoylases 1749 2000-06-09 2008-07-31 2023-01-20 5538 ENSG00000131238 OTTHUMG00000004495 uc001cfb.3 U44772 NM_000310 "CCDS44119|CCDS85955|CCDS447" P50897 "7637805|8325646" MGI:1298204 RGD:61994 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene|http://www.retina-international.org/files/sci-news/pptmut.htm|LRG_690|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_690.xml" 600722 117978 objectId:3199 3.1.2.22 HGNC:9325 "ENST00000642050.2|NM_000310.4" HGNC:9325 HGNC:9326 PPT2 palmitoyl-protein thioesterase 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 1998-09-21 2023-03-15 9374 ENSG00000221988 OTTHUMG00000031257 uc063wvw.1 AF020543 NM_138717 "CCDS4740|CCDS4742" Q9UMR5 "9341199|10051407" MGI:1860075 RGD:620375 603298 477421 3.1.2.22 HGNC:9326 "ENST00000324816.11|NM_005155.7" HGNC:48343 PPT2-EGFL8 PPT2-EGFL8 readthrough (NMD candidate) other readthrough Approved 6p21.32 06p21.32 2013-05-09 2013-05-09 100532746 ENSG00000258388 OTTHUMG00000171245 NR_037861 HGNC:48343 HGNC:30695 PPTC7 protein phosphatase targeting COQ7 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 TA-PP2C T cell activation protein phosphatase 2C PTC7 protein phosphatase homolog (S. cerevisiae) Protein phosphatases, Mg2+/Mn2+ dependent 701 2006-02-27 2019-11-26 2023-01-20 160760 ENSG00000196850 OTTHUMG00000169529 uc001trh.2 AF385435 NM_139283 CCDS9149 Q8NI37 "15177553|30267671" MGI:2444593 RGD:1310383 609668 3.1.3.16 HGNC:30695 "ENST00000354300.5|NM_139283.2" -HGNC:28954 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 KIAA0073 "WD repeat domain containing|Cyclophilin peptidylprolyl isomerases|Spliceosomal C complex|Spliceosomal P complex" "362|909|1510|1516" 2005-05-26 2023-01-20 23398 ENSG00000113593 OTTHUMG00000131226 uc003jtv.6 AK025679 NM_015342 "CCDS64161|CCDS64162|CCDS3985" Q96BP3 7584044 MGI:2443069 RGD:1310204 618274 HGNC:28954 "ENST00000261308.10|NM_015342.4" HGNC:28954 +HGNC:28954 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 KIAA0073 "WD repeat domain containing|Cyclophilin peptidylprolyl isomerases|Spliceosomal C complex|Spliceosomal P complex" "362|909|1510|1516" 2005-05-26 2023-01-20 23398 ENSG00000113593 OTTHUMG00000131226 uc003jtv.6 AK025679 NM_015342 "CCDS3985|CCDS64162|CCDS64161" Q96BP3 7584044 MGI:2443069 RGD:1310204 618274 HGNC:28954 "ENST00000261308.10|NM_015342.4" HGNC:28954 HGNC:9327 PPY pancreatic polypeptide protein-coding gene gene with protein product Approved 17q21.31 17q21.31 PNP "pancreatic polypeptide Y|prepro-PP (prepropancreatic polypeptide)" Neuropeptides 1902 1986-01-01 2023-01-20 5539 ENSG00000108849 OTTHUMG00000181800 uc002iep.4 NM_002722 CCDS11472 P01298 3753985 MGI:97753 RGD:3385 167780 ligandId:1512 HGNC:9327 "ENST00000225992.8|NM_002722.5" HGNC:9328 PPY2P pancreatic polypeptide 2, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 PPY2 pancreatic polypeptide 2 1999-10-19 2015-02-27 2015-02-27 2015-02-27 23614 ENSG00000265060 OTTHUMG00000179302 AF222903 NR_002181 Q9NRI7 10756099 606638 HGNC:9328 -HGNC:9330 PQBP1 polyglutamine binding protein 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "RENS1|MRXS8|SHS|MRX55|MRX2|MRXS3" "Sutherland-Haan X-linked mental retardation syndrome|mental retardation, X-linked 55|mental retardation, X-linked 2 (non-dysmorphic)" Spliceosomal B complex 1507 1999-01-12 2023-03-15 10084 ENSG00000102103 OTTHUMG00000024128 uc004dlg.4 AJ005893 NM_001032381.1 "CCDS55412|CCDS14309" O60828 "9875212|15024694|14634649" MGI:1859638 RGD:1549750 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PQBP1 300463 117983 HGNC:9330 "ENST00000447146.7|NM_001032382.2" HGNC:9330 +HGNC:9330 PQBP1 polyglutamine binding protein 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "RENS1|MRXS8|SHS|MRX55|MRX2|MRXS3" "Sutherland-Haan X-linked mental retardation syndrome|mental retardation, X-linked 55|mental retardation, X-linked 2 (non-dysmorphic)" Spliceosomal B complex 1507 1999-01-12 2023-03-15 10084 ENSG00000102103 OTTHUMG00000024128 uc004dlg.4 AJ005893 NM_001032381.1 "CCDS14309|CCDS55412" O60828 "9875212|15024694|14634649" MGI:1859638 RGD:1549750 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PQBP1 300463 117983 HGNC:9330 "ENST00000447146.7|NM_001032382.2" HGNC:9330 HGNC:30591 PRAC1 PRAC1 small nuclear protein protein-coding gene gene with protein product Approved 17q21.32 17q21.32 prostate, rectum and colon "C17orf92|PRAC" "chromosome 17 open reading frame 92|prostate cancer susceptibility candidate|prostate cancer susceptibility candidate 1" 2008-01-17 2013-08-29 2017-03-02 2023-01-20 84366 ENSG00000159182 OTTHUMG00000159899 AF331165 NM_032391 CCDS11535 Q96KF2 11340635 609819 HGNC:30591 "ENST00000290294.5|NM_032391.3" -HGNC:30143 PRAC2 PRAC2 small nuclear protein protein-coding gene gene with protein product Approved 17q21.32 17q21.32 prostate, rectum and colon 2 "C17orf93|NCRNA00253|HOXB13-AS1|HOXB-AS5" "chromosome 17 open reading frame 93|non-protein coding RNA 253|HOXB13 antisense RNA 1 (non-protein coding)|HOXB cluster antisense RNA 5 (non-protein coding)|HOXB cluster antisense RNA 5|prostate cancer susceptibility candidate 2" 2008-01-17 2013-08-29 2018-02-14 2023-01-20 360205 ENSG00000229637 OTTHUMG00000132085 "AF532777|BX106051" NM_001282275 "CCDS74099|CCDS74100" D3DTV9 "12746837|28557546" 610787 HGNC:30143 "ENST00000422730.4|NM_001282275.2" +HGNC:30143 PRAC2 PRAC2 small nuclear protein protein-coding gene gene with protein product Approved 17q21.32 17q21.32 prostate, rectum and colon 2 "C17orf93|NCRNA00253|HOXB13-AS1|HOXB-AS5" "chromosome 17 open reading frame 93|non-protein coding RNA 253|HOXB13 antisense RNA 1 (non-protein coding)|HOXB cluster antisense RNA 5 (non-protein coding)|HOXB cluster antisense RNA 5|prostate cancer susceptibility candidate 2" 2008-01-17 2013-08-29 2018-02-14 2023-01-20 360205 ENSG00000229637 OTTHUMG00000132085 "AF532777|BX106051" NM_001282275 "CCDS74100|CCDS74099" D3DTV9 "12746837|28557546" 610787 HGNC:30143 "ENST00000422730.4|NM_001282275.2" HGNC:16047 PRADC1 protease associated domain containing 1 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "MGC13004|PAP21|hPAP21" protease-associated domain-containing glycoprotein 21 kDa C2orf7 chromosome 2 open reading frame 7 2001-07-27 2011-04-15 2016-05-26 2023-01-20 84279 ENSG00000135617 OTTHUMG00000129773 uc002siy.3 BC005069 NM_032319 CCDS1924 Q9BSG0 15498570 MGI:1920577 RGD:1583112 619674 HGNC:16047 "ENST00000258083.3|NM_032319.3" HGNC:44534 PRADC1P1 protease associated domain containing 1 pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 2012-11-15 2016-05-26 2016-05-26 645571 ENSG00000236165 OTTHUMG00000155852 NG_022245 PGOHUM00000237993 HGNC:44534 HGNC:40168 PRADX PRC2 and DDX5 associated lncRNA non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Long non-coding RNAs with non-systematic symbols 1992 2022-08-17 2022-08-17 126568849 ENSG00000235027 NR_182291 "33754075|35574370" @@ -26613,31 +26616,31 @@ HGNC:51896 PRAMEF35P PRAME family member 35, pseudogene pseudogene pseudogene Ap HGNC:51897 PRAMEF36P PRAME family member 36, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2015-09-17 2015-09-17 645354 ENSG00000229978 OTTHUMG00000009501 NR_111945 PGOHUM00000296219 HGNC:51897 HGNC:34302 PRAMENP PRAME N-terminal like, pseudogene pseudogene pseudogene Approved 22q11.22 22q11.22 FLJ16327 "PRAMEL|PRAMEF24P" "preferentially expressed antigen in melanoma-like|PRAME family member 24, pseudogene" PRAME family 686 2008-06-11 2013-09-27 2019-02-20 2019-02-20 649179 ENSG00000197549 OTTHUMG00000150836 NR_135291 HGNC:34302 HGNC:51126 PRANCR progenitor renewal associated non-coding RNA non-coding RNA RNA, long non-coding Approved 12q15 12q15 "LINC01481|CNOT2-DT" "long intergenic non-protein coding RNA 1481|CNOT2 divergent transcript" Long non-coding RNAs with non-systematic symbols 1992 2014-07-30 2019-12-06 2019-12-06 2019-12-06 101928062 ENSG00000257815 OTTHUMG00000169448 NR_120460 31804951 619085 LINC01481 HGNC:51126 -HGNC:23304 PRAP1 proline rich acidic protein 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 UPA 2004-04-20 2016-06-06 2023-01-20 118471 ENSG00000165828 OTTHUMG00000019312 uc021qbf.2 AF421885 NM_145202 "CCDS44498|CCDS7679" Q96NZ9 "14583459|20674898" MGI:893573 RGD:61876 609776 HGNC:23304 "ENST00000433452.6|NM_145202.5" +HGNC:23304 PRAP1 proline rich acidic protein 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 UPA 2004-04-20 2016-06-06 2023-01-20 118471 ENSG00000165828 OTTHUMG00000019312 uc021qbf.2 AF421885 NM_145202 "CCDS7679|CCDS44498" Q96NZ9 "14583459|20674898" MGI:893573 RGD:61876 609776 HGNC:23304 "ENST00000433452.6|NM_145202.5" HGNC:9337 PRB1 proline rich protein BstNI subfamily 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "PM|PMF|PMS|PRB1M|PRB1L" proline rich protein BstNI subfamily 1 (gene/pseudogene) Proline rich proteins 972 2001-06-22 2020-05-01 2023-03-15 5542 ENSG00000251655 OTTHUMG00000157263 uc001qzu.2 NM_005039 P04280 8317492 "MGI:97773|MGI:1927478|MGI:1932491|MGI:3645847" RGD:628796 180989 HGNC:9337 HGNC:9338 PRB2 proline rich protein BstNI subfamily 2 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "PRPPRB1|Ps|cP7" Proline rich proteins 972 2001-06-22 2016-06-06 2023-01-20 653247 ENSG00000121335 OTTHUMG00000156975 uc010shk.2 K03208 NM_006248 CCDS41757 P02812 8554050 MGI:2681872 168810 HGNC:9338 "ENST00000389362.6|NM_006248.4" HGNC:9339 PRB3 proline rich protein BstNI subfamily 3 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 PRG Proline rich proteins 972 2001-06-22 2016-06-06 2023-01-20 5544 ENSG00000197870 OTTHUMG00000169065 uc058lgt.1 NM_006249 CCDS91655 Q04118 1894623 "MGI:97773|MGI:1927478|MGI:1932491|MGI:3645847" RGD:620386 168840 HGNC:9339 "ENST00000538488.3|NM_001394862.1" HGNC:9340 PRB4 proline rich protein BstNI subfamily 4 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 Proline rich proteins 972 2001-06-22 2016-06-06 2023-01-20 5545 ENSG00000230657 OTTHUMG00000169116 uc001qzt.5 NM_002723 "CCDS58208|CCDS8641" P10163 "MGI:97773|MGI:1927478|MGI:1932491|MGI:3645847" 180990 HGNC:9340 "ENST00000279575.7|NM_002723.6" -HGNC:9341 PRC1 protein regulator of cytokinesis 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 ASE1 anaphase spindle elongation 1 homolog (S. cerevisiae) 1999-07-01 2006-07-07 2023-01-20 9055 ENSG00000198901 OTTHUMG00000171685 uc002bqn.5 AF044588 NM_003981 "CCDS45353|CCDS32334|CCDS45352" O43663 9885575 MGI:1858961 RGD:1311754 603484 HGNC:9341 "ENST00000394249.8|NM_003981.4" +HGNC:9341 PRC1 protein regulator of cytokinesis 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 ASE1 anaphase spindle elongation 1 homolog (S. cerevisiae) 1999-07-01 2006-07-07 2023-01-20 9055 ENSG00000198901 OTTHUMG00000171685 uc002bqn.5 AF044588 NM_003981 "CCDS32334|CCDS45353|CCDS45352" O43663 9885575 MGI:1858961 RGD:1311754 603484 HGNC:9341 "ENST00000394249.8|NM_003981.4" HGNC:48587 PRC1-AS1 PRC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Antisense RNAs 1987 2013-05-29 2013-05-29 100507118 ENSG00000258725 OTTHUMG00000171686 NR_051984 PRC1-AS1 HGNC:48587 HGNC:9343 PRCC proline rich mitotic checkpoint control factor protein-coding gene gene with protein product Approved 1q23.1 01q23.1 RCCP1 papillary renal cell carcinoma (translocation-associated) Spliceosomal Bact complex 1508 1996-09-03 2018-06-26 2023-03-15 5546 ENSG00000143294 OTTHUMG00000041294 uc001fqa.4 X99720 NM_005973 CCDS1157 Q92733 "8872474|11717438" MGI:2137738 RGD:1309037 PRCC 179755 117989 HGNC:9343 "ENST00000271526.9|NM_005973.5" HGNC:32528 PRCD photoreceptor disc component protein-coding gene gene with protein product Approved 17q25.1 17q25.1 RP36 progressive rod-cone degeneration 2006-09-21 2017-01-10 2023-01-20 768206 ENSG00000214140 OTTHUMG00000132200 uc002jrx.3 DQ390338 NM_001077620 CCDS42382 Q00LT1 16938425 MGI:3649529 RGD:6488422 610598 117992 HGNC:32528 "ENST00000592014.6|NM_001077620.3" HGNC:32528 -HGNC:9344 PRCP prolylcarboxypeptidase protein-coding gene gene with protein product Approved 11q14 11q14 "PCP|HUMPCP" angiotensinase C prolylcarboxypeptidase (angiotensinase C) "Minor histocompatibility antigens|M14 carboxypeptidases" "870|1321" 1997-11-06 2015-11-09 2023-01-20 5547 ENSG00000137509 OTTHUMG00000166899 uc001ozs.4 "BC001500|BI827978|L13977" NM_005040 "CCDS8262|CCDS41695|CCDS91553" P42785 8344943 MGI:1919711 RGD:1307842 176785 S28.001 objectId:1584 HGNC:9344 "ENST00000313010.8|NM_005040.4" +HGNC:9344 PRCP prolylcarboxypeptidase protein-coding gene gene with protein product Approved 11q14 11q14 "PCP|HUMPCP" angiotensinase C prolylcarboxypeptidase (angiotensinase C) "Minor histocompatibility antigens|M14 carboxypeptidases" "870|1321" 1997-11-06 2015-11-09 2023-01-20 5547 ENSG00000137509 OTTHUMG00000166899 uc001ozs.4 "BC001500|BI827978|L13977" NM_005040 "CCDS91553|CCDS41695|CCDS8262" P42785 8344943 MGI:1919711 RGD:1307842 176785 S28.001 objectId:1584 HGNC:9344 "ENST00000313010.8|NM_005040.4" HGNC:54653 PRCPP1 PRCP pseudogene 1 pseudogene pseudogene Approved 2q11.2 02q11.2 2019-11-08 2019-11-08 100421289 ENSG00000232556 NG_023596 -HGNC:9346 PRDM1 PR/SET domain 1 protein-coding gene gene with protein product Approved 6q21 06q21 PRDI-BF1 BLIMP1 "PR domain containing 1, with ZNF domain|PR domain 1" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 1994-09-14 2016-07-18 2023-01-20 639 ENSG00000057657 OTTHUMG00000015299 uc003prd.3 NM_001198 "CCDS5054|CCDS34505" O75626 1851123 MGI:99655 RGD:1311765 PRDM1 603423 470904 HGNC:9346 "ENST00000369096.9|NM_001198.4" -HGNC:9347 PRDM2 PR/SET domain 2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "RIZ|RIZ1|RIZ2|KMT8|MTB-ZF|HUMHOXY1|KMT8A" "retinoblastoma protein-binding zinc finger protein|retinoblastoma protein-interacting zinc finger protein|MTE-binding protein|zinc-finger DNA-binding protein|GATA-3 binding protein G3B" "PR domain containing 2, with ZNF domain|PR domain 2" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family" "28|487|1197" 1999-08-23 2016-07-18 2023-03-15 7799 ENSG00000116731 OTTHUMG00000007917 uc001avi.3 U17838 NM_012231 "CCDS30603|CCDS150|CCDS44061" Q13029 7538672 MGI:107628 RGD:1594531 601196 objectId:2699 HGNC:9347 "ENST00000311066.10|NM_001393986.1" +HGNC:9346 PRDM1 PR/SET domain 1 protein-coding gene gene with protein product Approved 6q21 06q21 PRDI-BF1 BLIMP1 "PR domain containing 1, with ZNF domain|PR domain 1" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 1994-09-14 2016-07-18 2023-01-20 639 ENSG00000057657 OTTHUMG00000015299 uc003prd.3 NM_001198 "CCDS34505|CCDS5054" O75626 1851123 MGI:99655 RGD:1311765 PRDM1 603423 470904 HGNC:9346 "ENST00000369096.9|NM_001198.4" +HGNC:9347 PRDM2 PR/SET domain 2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "RIZ|RIZ1|RIZ2|KMT8|MTB-ZF|HUMHOXY1|KMT8A" "retinoblastoma protein-binding zinc finger protein|retinoblastoma protein-interacting zinc finger protein|MTE-binding protein|zinc-finger DNA-binding protein|GATA-3 binding protein G3B" "PR domain containing 2, with ZNF domain|PR domain 2" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family" "28|487|1197" 1999-08-23 2016-07-18 2023-03-15 7799 ENSG00000116731 OTTHUMG00000007917 uc001avi.3 U17838 NM_012231 "CCDS150|CCDS44061|CCDS30603" Q13029 7538672 MGI:107628 RGD:1594531 601196 objectId:2699 HGNC:9347 "ENST00000311066.10|NM_001393986.1" HGNC:9348 PRDM4 PR/SET domain 4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 PFM1 "PR domain containing 4|PR domain 4" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 1999-08-23 2016-07-18 2023-01-20 11108 ENSG00000110851 OTTHUMG00000169914 uc001tmp.4 AF144757 NM_012406 CCDS9115 Q9UKN5 10552934 MGI:1920093 RGD:619929 605780 HGNC:9348 "ENST00000228437.10|NM_012406.4" HGNC:56186 PRDM4-AS1 PRDM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q23.3 12q23.3 Antisense RNAs 1987 2022-01-17 2022-01-17 101929162 ENSG00000258136 NR_120474 -HGNC:9349 PRDM5 PR/SET domain 5 protein-coding gene gene with protein product Approved 4q27 04q27 PFM2 "PR domain containing 5|PR domain 5" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 1999-08-23 2016-07-18 2023-01-20 11107 ENSG00000138738 OTTHUMG00000132970 uc003idn.4 AF272897 NM_001300823 "CCDS3716|CCDS75188|CCDS75187" Q9NQX1 "15077163|21664999" MGI:1918029 RGD:1588700 614161 270336 2.1.1.- HGNC:9349 "ENST00000264808.8|NM_018699.4" HGNC:9349 +HGNC:9349 PRDM5 PR/SET domain 5 protein-coding gene gene with protein product Approved 4q27 04q27 PFM2 "PR domain containing 5|PR domain 5" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 1999-08-23 2016-07-18 2023-01-20 11107 ENSG00000138738 OTTHUMG00000132970 uc003idn.4 AF272897 NM_001300823 "CCDS75187|CCDS3716|CCDS75188" Q9NQX1 "15077163|21664999" MGI:1918029 RGD:1588700 614161 270336 2.1.1.- HGNC:9349 "ENST00000264808.8|NM_018699.4" HGNC:9349 HGNC:9350 PRDM6 PR/SET domain 6 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "PRISM|KMT8C" "PR domain containing 6|PR domain 6" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family" "28|487|1197" 1999-08-23 2016-07-18 2023-01-20 93166 ENSG00000061455 OTTHUMG00000150469 uc003kti.4 AF272898 NM_001136239 CCDS47259 Q9NQX0 "16537907|27716515" MGI:2684938 RGD:1559594 616982 461326 2.1.1.43 HGNC:9350 "ENST00000407847.5|NM_001136239.4" HGNC:9350 HGNC:55869 PRDM6-AS1 PRDM6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Antisense RNAs 1987 2021-09-06 2021-09-06 105379152 ENSG00000223652 NR_146771 HGNC:9351 PRDM7 PR/SET domain 7 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 ZNF910 "PR domain containing 7|PR domain 7" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 1999-08-23 2016-07-18 2023-03-15 11105 ENSG00000126856 OTTHUMG00000138990 uc010cje.4 AF274347 NM_001098173 CCDS45557 Q9NQW5 "17916234|27129774" MGI:2384854 609759 2.1.1.43 HGNC:9351 "ENST00000449207.8|NM_001098173.2" HGNC:13993 PRDM8 PR/SET domain 8 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 KMT8D "PR domain containing 8|PR domain 8" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family" "28|487|1197" 2000-11-28 2016-07-18 2023-01-20 56978 ENSG00000152784 OTTHUMG00000160885 uc010ijo.4 AF275815 NM_001099403 CCDS43243 Q9NQV8 22284184 MGI:1924880 RGD:1311628 616639 327299 HGNC:13993 "ENST00000415738.3|NM_001099403.2" HGNC:13993 HGNC:55581 PRDM8-AS1 PRDM8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 Antisense RNAs 1987 2021-04-23 2021-04-23 105377303 ENSG00000248719 NR_183911 HGNC:13994 PRDM9 PR/SET domain 9 protein-coding gene gene with protein product Approved 5p14.2 05p14.2 "PFM6|ZNF899|KMT8B|Meisetz" "PR-domain containing protein 9|histone-lysine N-methyltransferase PRDM9" MSBP3 "minisatellite binding protein 3, 115kDa|minisatellite binding protein 3 (115kD)|PR domain containing 9|PR domain 9" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family" "28|487|1197" 2000-11-28 2016-07-18 2023-01-20 56979 ENSG00000164256 OTTHUMG00000161918 uc003jgo.3 AF275816 NM_020227 CCDS43307 Q9NQV7 "10668202|2062643|24634223" MGI:2384854 RGD:1305247 609760 2.1.1.43 HGNC:13994 "ENST00000296682.4|NM_020227.4" -HGNC:13995 PRDM10 PR/SET domain 10 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "KIAA1231|PFM7|MGC131802" "PRDM zinc finger transcription factor|PR-domain family member 7|tristanin" "PR domain containing 10|PR domain 10" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2000-11-28 2016-07-18 2023-01-20 56980 ENSG00000170325 OTTHUMG00000165762 uc001qfn.4 AF275817 NM_199437 "CCDS44772|CCDS8485|CCDS44771|CCDS8484|CCDS91624" Q9NQV6 12175877 MGI:2682952 RGD:1560384 618319 HGNC:13995 "ENST00000360871.8|NM_199437.2" +HGNC:13995 PRDM10 PR/SET domain 10 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "KIAA1231|PFM7|MGC131802" "PRDM zinc finger transcription factor|PR-domain family member 7|tristanin" "PR domain containing 10|PR domain 10" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2000-11-28 2016-07-18 2023-01-20 56980 ENSG00000170325 OTTHUMG00000165762 uc001qfn.4 AF275817 NM_199437 "CCDS8484|CCDS8485|CCDS44772|CCDS91624|CCDS44771" Q9NQV6 12175877 MGI:2682952 RGD:1560384 618319 HGNC:13995 "ENST00000360871.8|NM_199437.2" HGNC:30468 PRDM10-DT PRDM10 divergent transcript non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 FLJ31394 "C11orf37|NCRNA00167|LINC00167" "chromosome 11 open reading frame 37|non-protein coding RNA 167|long intergenic non-protein coding RNA 167" Divergent transcripts 1990 2005-09-18 2021-07-12 2021-07-12 2021-07-12 440072 ENSG00000233220 OTTHUMG00000165763 uc058jcj.1 AK055956 NR_024233 Q96N53 LINC00167 HGNC:30468 -HGNC:13996 PRDM11 PR/SET domain 11 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 PFM8 PR-domain containing protein 11 "PR domain containing 11|PR domain 11" PR/SET domain family 1197 2000-11-28 2016-07-18 2023-01-20 56981 ENSG00000019485 OTTHUMG00000166478 uc031qaa.2 AF275818 NM_020229 "CCDS73277|CCDS58130|CCDS91463" Q9NQV5 MGI:2685553 RGD:1597330 616347 HGNC:13996 "ENST00000683152.1|NM_001384648.1" +HGNC:13996 PRDM11 PR/SET domain 11 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 PFM8 PR-domain containing protein 11 "PR domain containing 11|PR domain 11" PR/SET domain family 1197 2000-11-28 2016-07-18 2023-01-20 56981 ENSG00000019485 OTTHUMG00000166478 uc031qaa.2 AF275818 NM_020229 "CCDS91463|CCDS73277|CCDS58130" Q9NQV5 MGI:2685553 RGD:1597330 616347 HGNC:13996 "ENST00000683152.1|NM_001384648.1" HGNC:13997 PRDM12 PR/SET domain 12 protein-coding gene gene with protein product Approved 9q34.12 09q34.12 PFM9 "PR-domain containing protein 12|PR-domain zinc finger protein 12" "PR domain containing 12|PR domain 12" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2000-11-28 2016-07-18 2023-01-20 59335 ENSG00000130711 OTTHUMG00000020808 uc004bzt.2 AY004252 NM_021619 CCDS6934 Q9H4Q4 "14523459|26005867" MGI:2685844 RGD:1586401 616458 470906 HGNC:13997 "ENST00000253008.3|NM_021619.3" HGNC:13997 HGNC:13998 PRDM13 PR/SET domain 13 protein-coding gene gene with protein product Approved 6q16.2 06q16.2 PFM10 "PR domain containing 13|PR domain 13" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2000-11-28 2016-07-18 2023-01-20 59336 ENSG00000112238 OTTHUMG00000015269 uc003pqg.2 AY004253 NM_021620 CCDS43487 Q9H4Q3 26507665 MGI:2448528 RGD:1589883 616741 HGNC:13998 "ENST00000369215.5|NM_021620.4" HGNC:13998 HGNC:14001 PRDM14 PR/SET domain 14 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "PR domain containing 14|PR domain 14" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2000-11-28 2016-07-18 2023-01-20 63978 ENSG00000147596 OTTHUMG00000150495 uc003xym.3 AF319458 NM_024504 CCDS6206 Q9GZV8 MGI:3588194 RGD:2319590 611781 HGNC:14001 "ENST00000276594.3|NM_024504.4" @@ -26665,7 +26668,7 @@ HGNC:16753 PRDX6 peroxiredoxin 6 protein-coding gene gene with protein product A HGNC:54870 PRDX6-AS1 PRDX6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 Antisense RNAs 1987 2020-04-01 2021-10-08 101928673 ENSG00000203739 NR_125960 32211330 HGNC:9356 PREB prolactin regulatory element binding protein-coding gene gene with protein product Approved 2p23.3 02p23.3 SEC12 WD repeat domain containing 362 1999-05-17 2023-01-20 10113 ENSG00000138073 OTTHUMG00000097076 uc002rix.3 NM_013388 "CCDS82431|CCDS1738" Q9HCU5 "10194769|12735795" MGI:1355326 RGD:61929 606395 HGNC:9356 "ENST00000260643.7|NM_013388.6" HGNC:27492 PRECSIT p53 regulated carcinoma associated Stat3 activating long intergenic non-protein coding transcript non-coding RNA RNA, long non-coding Approved 13q34 13q34 "C13orf29|NCRNA00346|LINC00346" "chromosome 13 open reading frame 29|non-protein coding RNA 346|long intergenic non-protein coding RNA 346" Long non-coding RNAs with non-systematic symbols 1992 2006-08-04 2019-12-18 2019-12-18 2023-03-15 283487 ENSG00000255874 OTTHUMG00000187398 uc001vrk.3 NR_027701 "29228425|31837949" LINC00346 HGNC:27492 -HGNC:30255 PRELID1 PRELI domain containing 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "CGI-106|PX19|PRELI" "protein of relevant evolutionary and lymphoid interest|px19-like protein" PRELI domain containing 1295 2007-02-20 2023-01-20 27166 ENSG00000169230 OTTHUMG00000130847 uc003mfx.5 BC013748 NM_013237 "CCDS64328|CCDS4415" Q9Y255 "10784606|14640972" MGI:1913744 RGD:1308082 605733 HGNC:30255 "ENST00000303204.9|NM_013237.4" +HGNC:30255 PRELID1 PRELI domain containing 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "CGI-106|PX19|PRELI" "protein of relevant evolutionary and lymphoid interest|px19-like protein" PRELI domain containing 1295 2007-02-20 2023-01-20 27166 ENSG00000169230 OTTHUMG00000130847 uc003mfx.5 BC013748 NM_013237 "CCDS4415|CCDS64328" Q9Y255 "10784606|14640972" MGI:1913744 RGD:1308082 605733 HGNC:30255 "ENST00000303204.9|NM_013237.4" HGNC:43886 PRELID1P1 PRELID1 pseudogene 1 pseudogene pseudogene Approved 6q22.32 06q22.32 PRELI domain containing 1 pseudogene 1 2012-04-23 2020-01-08 2020-01-08 728666 ENSG00000217325 OTTHUMG00000015520 NG_022903 PGOHUM00000243766 HGNC:43886 HGNC:43887 PRELID1P2 PRELID1 pseudogene 2 pseudogene pseudogene Approved 6p22.2 06p22.2 PRELI domain containing 1 pseudogene 2 2012-04-23 2020-01-08 2020-01-08 100419971 ENSG00000217408 OTTHUMG00000014392 NG_025789 PGOHUM00000243079 HGNC:43887 HGNC:43888 PRELID1P3 PRELID1 pseudogene 3 pseudogene pseudogene Approved 10q21.3 10q21.3 PRELI domain containing 1 pseudogene 3 2012-04-23 2020-01-08 2020-01-08 100420046 ENSG00000235816 OTTHUMG00000018316 NG_025509 PGOHUM00000238812 HGNC:43888 @@ -26676,7 +26679,7 @@ HGNC:54772 PRELID1P7 PRELID1 pseudogene 7 pseudogene pseudogene Approved 1q23.3 HGNC:28306 PRELID2 PRELI domain containing 2 protein-coding gene gene with protein product Approved 5q32 05q32 "MGC21644|FLJ38376" PRELI domain containing 1295 2007-02-20 2023-01-20 153768 ENSG00000186314 OTTHUMG00000163384 uc063ihc.1 AK095695 NM_182960 "CCDS43377|CCDS34261|CCDS34262" Q8N945 19847657 MGI:1924869 RGD:1584707 HGNC:28306 "ENST00000683046.1|NM_205846.3" HGNC:43892 PRELID2P1 PRELI domain containing 2 pseudogene 1 pseudogene pseudogene Approved 12q15 12q15 2012-04-23 2012-04-23 102606462 ENSG00000257336 OTTHUMG00000169302 NG_033861 PGOHUM00000239514 HGNC:43892 HGNC:24639 PRELID3A PRELI domain containing 3A protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "HFL-EDDG1|FLJ31484" erythroid differentiation and denucleation factor 1 "C18orf43|SLMO1" "chromosome 18 open reading frame 43|slowmo homolog 1 (Drosophila)" PRELI domain containing 1295 2004-06-18 2015-08-14 2015-08-14 2023-01-20 10650 ENSG00000141391 OTTHUMG00000131694 AK056046 NM_006553 "CCDS11860|CCDS77154" Q96N28 MGI:2442865 RGD:1582858 616545 HGNC:24639 "ENST00000440960.6|NM_001142405.2" -HGNC:15892 PRELID3B PRELI domain containing 3B protein-coding gene gene with protein product Approved 20q13.32 20q13.32 dJ543J19.5 "C20orf45|SLMO2" "chromosome 20 open reading frame 45|slowmo homolog 2 (Drosophila)" PRELI domain containing 1295 2001-06-21 2015-08-14 2015-08-14 2023-01-20 51012 ENSG00000101166 OTTHUMG00000032856 AF151865 NM_016045 "CCDS42893|CCDS58783" Q9Y3B1 MGI:1913640 RGD:1594395 HGNC:15892 "ENST00000355937.9|NM_016045.3" +HGNC:15892 PRELID3B PRELI domain containing 3B protein-coding gene gene with protein product Approved 20q13.32 20q13.32 dJ543J19.5 "C20orf45|SLMO2" "chromosome 20 open reading frame 45|slowmo homolog 2 (Drosophila)" PRELI domain containing 1295 2001-06-21 2015-08-14 2015-08-14 2023-01-20 51012 ENSG00000101166 OTTHUMG00000032856 AF151865 NM_016045 "CCDS58783|CCDS42893" Q9Y3B1 MGI:1913640 RGD:1594395 HGNC:15892 "ENST00000355937.9|NM_016045.3" HGNC:49063 PRELID3BP1 PRELI domain containing 3B pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 SLMO2P1 "slowmo homolog 2 (Drosophila) pseudogene 1|SLMO2 pseudogene 1" 2013-08-20 2015-08-14 2015-08-14 2015-08-14 100129664 ENSG00000226226 OTTHUMG00000037349 NG_030211 PGOHUM00000296776 HGNC:49063 HGNC:49064 PRELID3BP2 PRELI domain containing 3B pseudogene 2 pseudogene pseudogene Approved 13q14.3 13q14.3 SLMO2P2 "slowmo homolog 2 (Drosophila) pseudogene 2|SLMO2 pseudogene 2" 2013-08-20 2015-08-14 2015-08-14 2015-08-14 106481667 ENSG00000271242 OTTHUMG00000184860 NG_042929 PGOHUM00000292156 HGNC:49064 HGNC:49065 PRELID3BP3 PRELI domain containing 3B pseudogene 3 pseudogene pseudogene Approved 17q23.2 17q23.2 SLMO2P3 "slowmo homolog 2 (Drosophila) pseudogene 3|SLMO2 pseudogene 3" 2013-08-20 2015-08-14 2015-08-14 2015-08-14 100128712 ENSG00000264907 OTTHUMG00000179194 NG_022473 PGOHUM00000294511 HGNC:49065 @@ -26690,13 +26693,13 @@ HGNC:49072 PRELID3BP10 PRELI domain containing 3B pseudogene 10 pseudogene pseud HGNC:49073 PRELID3BP11 PRELI domain containing 3B pseudogene 11 pseudogene pseudogene Approved 9p24.1 09p24.1 SLMO2P11 SLMO2 pseudogene 11 2014-02-13 2015-08-14 2015-08-14 2015-08-14 102723314 ENSG00000231108 OTTHUMG00000019535 PGOHUM00000303725 HGNC:49073 HGNC:9357 PRELP proline and arginine rich end leucine rich repeat protein protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "SLRR2A|prolargin" prolargin proteoglycan proline arginine-rich end leucine-rich repeat protein Small leucine rich repeat proteoglycans 573 1996-09-24 2016-06-06 2023-01-20 5549 ENSG00000188783 OTTHUMG00000035911 uc001gzs.4 BC032498 NM_002725 CCDS1438 P51888 7592739 MGI:2151110 RGD:620226 601914 HGNC:9357 "ENST00000343110.3|NM_002725.4" HGNC:9358 PREP prolyl endopeptidase protein-coding gene gene with protein product Approved 6q21 06q21 prolyl oligopeptidase 1996-03-12 2023-01-20 5550 ENSG00000085377 OTTHUMG00000015297 uc003prc.4 NM_002726 CCDS5053 P48147 7959018 MGI:1270863 RGD:620841 600400 objectId:2395 3.4.21.26 HGNC:9358 "ENST00000652536.2|NM_002726.5" -HGNC:30228 PREPL prolyl endopeptidase like protein-coding gene gene with protein product Approved 2p21 02p21 KIAA0436 prolyl endopeptidase-like 2005-02-25 2018-01-05 2023-01-20 9581 ENSG00000138078 OTTHUMG00000152791 uc010fax.4 AB007896 NM_006036 "CCDS42676|CCDS42675|CCDS54353|CCDS33190" Q4J6C6 "11524703|24610330" MGI:2441932 RGD:1310143 609557 165929 S09.015 objectId:2870 HGNC:30228 "ENST00000409411.6|NM_001171613.2" HGNC:30228 +HGNC:30228 PREPL prolyl endopeptidase like protein-coding gene gene with protein product Approved 2p21 02p21 KIAA0436 prolyl endopeptidase-like 2005-02-25 2018-01-05 2023-01-20 9581 ENSG00000138078 OTTHUMG00000152791 uc010fax.4 AB007896 NM_006036 "CCDS42676|CCDS42675|CCDS33190|CCDS54353" Q4J6C6 "11524703|24610330" MGI:2441932 RGD:1310143 609557 165929 S09.015 objectId:2870 HGNC:30228 "ENST00000409411.6|NM_001171613.2" HGNC:30228 HGNC:32594 PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "KIAA1415|P-REX1" PIP3 dependent Rac exchange factor 1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 "Pleckstrin homology domain containing|Dbl family Rho GEFs|PDZ domain containing" "682|722|1220" 2008-09-15 2016-04-06 2023-01-20 57580 ENSG00000124126 OTTHUMG00000032685 uc002xtw.2 AB037836 NM_020820 CCDS13410 Q8TCU6 "11955434|15545267|16301320" MGI:3040696 RGD:1306534 606905 HGNC:32594 "ENST00000371941.4|NM_020820.4" HGNC:22950 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 protein-coding gene gene with protein product Approved 8q13.2 08q13.2 "DEP.2|FLJ12987|P-REX2|PPP1R129" protein phosphatase 1, regulatory subunit 129 DEPDC2 "DEP domain containing 2|phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2" "Protein phosphatase 1 regulatory subunits|Dbl family Rho GEFs|PDZ domain containing" "694|722|1220" 2004-02-23 2008-09-15 2016-04-06 2023-03-15 80243 ENSG00000046889 OTTHUMG00000164402 uc003xxv.2 AK024079 NM_025170 CCDS6201 Q70Z35 "15304342|15304343" MGI:1923385 RGD:1307865 PREX2 612139 HGNC:22950 "ENST00000288368.5|NM_024870.4" HGNC:9360 PRF1 perforin 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "PFP|P1|HPLH2" "Perforin|perforin 1 (preforming protein)" perforin 1 (pore forming protein) C2 domain containing 823 1989-02-23 2016-02-01 2023-01-20 5551 ENSG00000180644 OTTHUMG00000018412 uc009xqg.4 BC047695 NM_005041 CCDS7305 P14222 "1505959|2592021" MGI:97551 RGD:708463 "PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2)|http://structure.bmc.lu.se/idbase/PRF1base/|LRG_94|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_94.xml" PRF1 170280 117995 objectId:3100 HGNC:9360 "ENST00000441259.2|NM_001083116.3" HGNC:9360 HGNC:9362 PRG2 proteoglycan 2, pro eosinophil major basic protein protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "MBP|BMPG|proMBP" eosinophil major basic protein proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) C-type lectin domain containing 1298 1993-09-29 2016-06-17 2023-01-20 5553 ENSG00000186652 OTTHUMG00000167027 uc001nkc.4 BC005929 NM_002728 "CCDS7955|CCDS58133" P13727 1565101 MGI:103294 RGD:69336 605601 470642 I63.001 HGNC:9362 "ENST00000311862.10|NM_002728.6" HGNC:9363 PRG3 proteoglycan 3, pro eosinophil major basic protein 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "MBPH|MBP2" proteoglycan 3 C-type lectin domain containing 1298 2000-05-02 2016-06-17 2023-01-20 10394 ENSG00000156575 OTTHUMG00000167026 uc001njv.2 AF132209 NM_006093 CCDS7954 Q9Y2Y8 "10318872|11170744" MGI:1858200 RGD:1309904 606814 I63.001 HGNC:9363 "ENST00000287143.2|NM_006093.4" -HGNC:9364 PRG4 proteoglycan 4 protein-coding gene gene with protein product Approved 1q31.1 01q31.1 "JCAP|SZP|MSF|HAPO|bG174L6.2|FLJ32635" "lubricin|megakaryocyte stimulating factor|articular superficial zone protein|Jacobs camptodactyly-arthropathy-pericarditis syndrome|camptodactyly, arthropathy, coxa vara, pericarditis syndrome|bG174L6.2 (MSF: megakaryocyte stimulating factor )" CACP proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome) 2000-07-31 2004-11-15 2023-01-20 10216 ENSG00000116690 OTTHUMG00000035574 uc001gru.5 U70136 NM_005807 "CCDS44287|CCDS44288|CCDS81411|CCDS1369" Q92954 "10545950|9920774" MGI:1891344 RGD:1308976 604283 118000 HGNC:9364 "ENST00000445192.7|NM_005807.6" HGNC:9364 +HGNC:9364 PRG4 proteoglycan 4 protein-coding gene gene with protein product Approved 1q31.1 01q31.1 "JCAP|SZP|MSF|HAPO|bG174L6.2|FLJ32635" "lubricin|megakaryocyte stimulating factor|articular superficial zone protein|Jacobs camptodactyly-arthropathy-pericarditis syndrome|camptodactyly, arthropathy, coxa vara, pericarditis syndrome|bG174L6.2 (MSF: megakaryocyte stimulating factor )" CACP proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome) 2000-07-31 2004-11-15 2023-01-20 10216 ENSG00000116690 OTTHUMG00000035574 uc001gru.5 U70136 NM_005807 "CCDS81411|CCDS44288|CCDS44287|CCDS1369" Q92954 "10545950|9920774" MGI:1891344 RGD:1308976 604283 118000 HGNC:9364 "ENST00000445192.7|NM_005807.6" HGNC:9364 HGNC:9366 PRH1 proline rich protein HaeIII subfamily 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 Pa Proline rich proteins 972 2001-06-22 2016-06-06 2023-01-20 5554 ENSG00000231887 OTTHUMG00000186774 uc058lgd.1 NM_006250 CCDS76533 P02810 3009472 RGD:619775 168730 HGNC:9366 "ENST00000543626.5|NM_001393989.1" HGNC:9367 PRH2 proline rich protein HaeIII subfamily 2 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 Pr "parotid proline-rich protein|acidic salivary proline-rich protein, HaeIII type, 2" Proline rich proteins 972 2001-06-22 2016-06-06 2023-01-20 5555 ENSG00000134551 OTTHUMG00000168556 uc009zhr.4 NM_001110213 CCDS8636 P02810 3009472 168790 HGNC:9367 "ENST00000396400.4|NM_001110213.1" HGNC:17019 PRICKLE1 prickle planar cell polarity protein 1 protein-coding gene gene with protein product Approved 12q12 12q12 "FLJ31937|EPM1B|RILP" REST/NRSF interacting LIM domain protein "prickle-like 1 (Drosophila)|prickle homolog 1 (Drosophila)" "Prickle planar cell polarity proteins|LIM domain containing" "1184|1218" 2003-02-10 2016-01-15 2023-01-20 144165 ENSG00000139174 OTTHUMG00000169443 uc001rnm.4 AK056499 NM_001144881 CCDS8742 Q96MT3 "12525887|18976727" MGI:1916034 RGD:735090 608500 169957 HGNC:17019 "ENST00000345127.9|NM_153026.3" HGNC:17019 @@ -26706,33 +26709,33 @@ HGNC:40916 PRICKLE2-AS1 PRICKLE2 antisense RNA 1 non-coding RNA RNA, long non-co HGNC:40917 PRICKLE2-AS2 PRICKLE2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 PRICKLE2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874242 ENSG00000241101 OTTHUMG00000158792 uc031sal.2 NR_046701 PRICKLE2-AS2 HGNC:40917 HGNC:40918 PRICKLE2-AS3 PRICKLE2 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 PRICKLE2 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-18 100874243 ENSG00000226017 OTTHUMG00000158795 uc031sam.2 NR_046702 PRICKLE2-AS3 HGNC:40918 HGNC:52829 PRICKLE2-DT PRICKLE2 divergent transcript non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 Divergent transcripts 1990 2019-05-17 2019-05-17 101929316 ENSG00000244564 OTTHUMG00000158709 NR_183712 HGNC:52829 -HGNC:6645 PRICKLE3 prickle planar cell polarity protein 3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 LMO6 "LIM domain only 6|prickle homolog 3 (Drosophila)" "Prickle planar cell polarity proteins|LIM domain containing" "1184|1218" 1997-04-21 2007-09-18 2016-01-15 2023-01-20 4007 ENSG00000012211 OTTHUMG00000024134 uc004dmy.2 BC016856 NM_006150 "CCDS14320|CCDS78481" O43900 9344658 MGI:1859635 RGD:1359685 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRICKLE3 300111 HGNC:6645 "ENST00000599218.6|NM_006150.5" +HGNC:6645 PRICKLE3 prickle planar cell polarity protein 3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 LMO6 "LIM domain only 6|prickle homolog 3 (Drosophila)" "Prickle planar cell polarity proteins|LIM domain containing" "1184|1218" 1997-04-21 2007-09-18 2016-01-15 2023-01-20 4007 ENSG00000012211 OTTHUMG00000024134 uc004dmy.2 BC016856 NM_006150 "CCDS78481|CCDS14320" O43900 9344658 MGI:1859635 RGD:1359685 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRICKLE3 300111 HGNC:6645 "ENST00000599218.6|NM_006150.5" HGNC:16805 PRICKLE4 prickle planar cell polarity protein 4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "OEBT|DKFZp761H221" overexpressed breast tumour protein C6orf49 "chromosome 6 open reading frame 49|prickle homolog 4 (Drosophila)" "Prickle planar cell polarity proteins|LIM domain containing" "1184|1218" 2002-12-19 2007-09-18 2016-01-15 2023-01-20 29964 ENSG00000278224 OTTHUMG00000188149 uc011duf.2 AF216754 NM_013397 CCDS34449 Q2TBC4 15702247 MGI:2685785 RGD:1563979 611389 HGNC:16805 "ENST00000458694.6|NM_013397.6" HGNC:9369 PRIM1 DNA primase subunit 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "primase, DNA, polypeptide 1 (49kDa)|primase (DNA) subunit 1" 1990-07-26 2017-08-08 2023-01-20 5557 ENSG00000198056 OTTHUMG00000170034 uc001smd.4 BC005266 NM_000946 CCDS44926 P49642 8530050 MGI:97757 RGD:621380 176635 HGNC:9369 "ENST00000338193.11|NM_000946.3" HGNC:9370 PRIM2 DNA primase subunit 2 protein-coding gene gene with protein product Approved 6p11.2 06p11.2 PRIM2A "primase, polypeptide 2A (58kD)|primase, polypeptide 2A, 58kDa|primase, DNA, polypeptide 2 (58kDa)|primase (DNA) subunit 2" MicroRNA protein coding host genes 1691 1990-07-26 2007-06-19 2017-08-08 2023-01-20 5558 ENSG00000146143 OTTHUMG00000016190 uc032wzb.2 NM_000947 "CCDS75477|CCDS75476" P49643 "8530050|20675616" MGI:97758 RGD:631433 176636 HGNC:9370 "ENST00000615550.5|NM_000947.5" HGNC:55759 PRIM2BP primase 2B, pseudogene pseudogene pseudogene Approved 6q11.1 06q11.1 2021-07-21 2021-07-21 100996481 ENSG00000283453 NG_034112 PGOHUM00000301828 HGNC:18319 PRIMA1 proline rich membrane anchor 1 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 PRIMA membrane anchor of acetylcholinesterase 2002-04-26 2023-03-15 145270 ENSG00000175785 OTTHUMG00000141313 uc001ybw.2 NM_178013 CCDS9912 Q86XR5 11804574 MGI:1926097 RGD:1583978 613851 HGNC:18319 "ENST00000393140.6|NM_178013.4" -HGNC:26575 PRIMPOL primase and DNA directed polymerase protein-coding gene gene with protein product Approved 4q35.1 04q35.1 FLJ33167 CCDC111 "coiled-coil domain containing 111|primase and polymerase (DNA-directed)" DNA polymerases 535 2006-05-22 2013-09-27 2015-11-06 2023-01-20 201973 ENSG00000164306 OTTHUMG00000160495 AK057729 NM_152683 "CCDS3837|CCDS75212|CCDS75211" Q96LW4 "24207056|24126761" MGI:3603756 RGD:1562119 615421 HGNC:26575 "ENST00000314970.11|NM_152683.4" +HGNC:26575 PRIMPOL primase and DNA directed polymerase protein-coding gene gene with protein product Approved 4q35.1 04q35.1 FLJ33167 CCDC111 "coiled-coil domain containing 111|primase and polymerase (DNA-directed)" DNA polymerases 535 2006-05-22 2013-09-27 2015-11-06 2023-01-20 201973 ENSG00000164306 OTTHUMG00000160495 AK057729 NM_152683 "CCDS75212|CCDS75211|CCDS3837" Q96LW4 "24207056|24126761" MGI:3603756 RGD:1562119 615421 HGNC:26575 "ENST00000314970.11|NM_152683.4" HGNC:34235 PRINS psoriasis associated non-protein coding RNA induced by stress non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 NCRNA00074 non-protein coding RNA 74 psoriasis associated RNA induced by stress (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2008-06-05 2012-08-16 2017-01-27 100169750 uc057sha.1 AK022045 NR_023388 "15855153|20377629|21750967" PRINS PRINS HGNC:9376 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 AMPKa1 AMPK, alpha, 1 protein kinase, AMP-activated, alpha 1 catalytic subunit Protein kinase AMP-activated catalytic subunit alphas 2134 1997-05-09 2016-01-27 2023-01-20 5562 ENSG00000132356 OTTHUMG00000162269 uc003jmc.4 NM_006251 "CCDS3933|CCDS3932" Q13131 8557660 MGI:2145955 RGD:3387 602739 objectId:1541 HGNC:9376 "ENST00000397128.7|NM_006251.6" HGNC:9377 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 protein-coding gene gene with protein product Approved 1p32.2 01p32.2 "AMPK|AMPKa2" PRKAA protein kinase, AMP-activated, alpha 2 catalytic subunit Protein kinase AMP-activated catalytic subunit alphas 2134 1995-12-12 2016-01-27 2023-01-20 5563 ENSG00000162409 OTTHUMG00000008282 uc001cyk.5 BC069823 NM_006252 CCDS605 P54646 7959015 MGI:1336173 RGD:620893 600497 objectId:1542 HGNC:9377 "ENST00000371244.9|NM_006252.4" HGNC:9378 PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 AMPK beta 1 protein kinase, AMP-activated, beta 1 non-catalytic subunit 1997-05-09 2016-01-27 2023-01-20 5564 ENSG00000111725 OTTHUMG00000168954 uc001txg.4 BC001823 NM_006253 CCDS9191 Q9Y478 8557660 MGI:1336167 RGD:71057 602740 objectId:1543 HGNC:9378 "ENST00000229328.10|NM_006253.5" HGNC:9379 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 AMPK beta 2 protein kinase, AMP-activated, beta 2 non-catalytic subunit 1997-05-09 2016-01-27 2023-01-20 5565 ENSG00000131791 OTTHUMG00000014032 uc001epe.5 BC053610 NM_005399 CCDS925 O43741 8557660 MGI:1336185 RGD:620905 602741 470910 objectId:1544 HGNC:9379 "ENST00000254101.4|NM_005399.5" -HGNC:9380 PRKACA protein kinase cAMP-activated catalytic subunit alpha protein-coding gene gene with protein product Approved 19p13.12 19p13.12 PKACa "protein kinase, cAMP-dependent, catalytic, alpha|protein kinase, cAMP-dependent, alpha catalytic subunit" "AGC family kinases|Protein kinase A subunits" "1625|2144" 2001-06-22 2016-01-27 2023-01-20 5566 ENSG00000072062 OTTHUMG00000182051 uc002myc.4 NM_002730 "CCDS12305|CCDS12304|CCDS92541" P17612 8884279 MGI:97592 RGD:3389 PRKACA 601639 404135 objectId:1476 2.7.11.1 HGNC:9380 "ENST00000308677.9|NM_002730.4" -HGNC:9381 PRKACB protein kinase cAMP-activated catalytic subunit beta protein-coding gene gene with protein product Approved 1p31.1 01p31.1 PKACb "protein kinase, cAMP-dependent, catalytic, beta|protein kinase, cAMP-dependent, beta catalytic subunit" "AGC family kinases|Protein kinase A subunits" "1625|2144" 2001-06-22 2016-01-27 2023-01-20 5567 ENSG00000142875 OTTHUMG00000009975 uc001djl.4 BC035058 NM_182948 "CCDS55611|CCDS55610|CCDS55609|CCDS72812|CCDS72813|CCDS693|CCDS692|CCDS72814|CCDS691|CCDS72815|CCDS72816" P22694 MGI:97594 RGD:1310574 176892 objectId:1477 2.7.11.1 HGNC:9381 "ENST00000370685.7|NM_182948.4" +HGNC:9380 PRKACA protein kinase cAMP-activated catalytic subunit alpha protein-coding gene gene with protein product Approved 19p13.12 19p13.12 PKACa "protein kinase, cAMP-dependent, catalytic, alpha|protein kinase, cAMP-dependent, alpha catalytic subunit" "AGC family kinases|Protein kinase A subunits" "1625|2144" 2001-06-22 2016-01-27 2023-01-20 5566 ENSG00000072062 OTTHUMG00000182051 uc002myc.4 NM_002730 "CCDS92541|CCDS12305|CCDS12304" P17612 8884279 MGI:97592 RGD:3389 PRKACA 601639 404135 objectId:1476 2.7.11.1 HGNC:9380 "ENST00000308677.9|NM_002730.4" +HGNC:9381 PRKACB protein kinase cAMP-activated catalytic subunit beta protein-coding gene gene with protein product Approved 1p31.1 01p31.1 PKACb "protein kinase, cAMP-dependent, catalytic, beta|protein kinase, cAMP-dependent, beta catalytic subunit" "AGC family kinases|Protein kinase A subunits" "1625|2144" 2001-06-22 2016-01-27 2023-01-20 5567 ENSG00000142875 OTTHUMG00000009975 uc001djl.4 BC035058 NM_182948 "CCDS72815|CCDS55610|CCDS55609|CCDS72816|CCDS691|CCDS72812|CCDS72814|CCDS693|CCDS692|CCDS72813|CCDS55611" P22694 MGI:97594 RGD:1310574 176892 objectId:1477 2.7.11.1 HGNC:9381 "ENST00000370685.7|NM_182948.4" HGNC:55245 PRKACB-DT PRKACB divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Divergent transcripts 1990 2020-09-17 2020-09-17 118597836 ENSG00000271576 HGNC:9382 PRKACG protein kinase cAMP-activated catalytic subunit gamma protein-coding gene gene with protein product Approved 9q21.11 09q21.11 PKACg "protein kinase, cAMP-dependent, catalytic, gamma|protein kinase, cAMP-dependent, gamma catalytic subunit" "AGC family kinases|Protein kinase A subunits" "1625|2144" 2001-06-22 2016-01-27 2023-01-20 5568 ENSG00000165059 OTTHUMG00000019974 uc004agy.4 M34182 NM_002732 CCDS6625 P22612 "2342480|9598317" LRG_1004|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1004.xml 176893 446842 objectId:1478 2.7.11.1 HGNC:9382 "ENST00000377276.5|NM_002732.4" HGNC:9382 -HGNC:9385 PRKAG1 protein kinase AMP-activated non-catalytic subunit gamma 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 protein kinase, AMP-activated, gamma 1 non-catalytic subunit 1997-05-09 2016-01-27 2023-03-15 5571 ENSG00000181929 OTTHUMG00000170406 uc001rsy.4 U42412 NM_002733 "CCDS55825|CCDS8777|CCDS55824" P54619 "8557660|8621499" MGI:108411 RGD:3388 602742 objectId:1545 HGNC:9385 "ENST00000548065.7|NM_002733.5" -HGNC:9386 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "AAKG|AAKG2|H91620p|WPWS|CMH6" AMPK gamma2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 1997-05-09 2016-01-27 2023-03-15 51422 ENSG00000106617 OTTHUMG00000157324 uc003wkk.4 AF087875 NM_016203 "CCDS94236|CCDS47752|CCDS43683|CCDS5928" Q9UGJ0 "8557660|8621499" MGI:1336153 RGD:727782 LRG_430|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_430.xml 602743 118006 objectId:1546 HGNC:9386 "ENST00000287878.9|NM_016203.4" HGNC:9386 +HGNC:9385 PRKAG1 protein kinase AMP-activated non-catalytic subunit gamma 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 protein kinase, AMP-activated, gamma 1 non-catalytic subunit 1997-05-09 2016-01-27 2023-03-15 5571 ENSG00000181929 OTTHUMG00000170406 uc001rsy.4 U42412 NM_002733 "CCDS55824|CCDS8777|CCDS55825" P54619 "8557660|8621499" MGI:108411 RGD:3388 602742 objectId:1545 HGNC:9385 "ENST00000548065.7|NM_002733.5" +HGNC:9386 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "AAKG|AAKG2|H91620p|WPWS|CMH6" AMPK gamma2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 1997-05-09 2016-01-27 2023-03-15 51422 ENSG00000106617 OTTHUMG00000157324 uc003wkk.4 AF087875 NM_016203 "CCDS94236|CCDS43683|CCDS47752|CCDS5928" Q9UGJ0 "8557660|8621499" MGI:1336153 RGD:727782 LRG_430|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_430.xml 602743 118006 objectId:1546 HGNC:9386 "ENST00000287878.9|NM_016203.4" HGNC:9386 HGNC:40468 PRKAG2-AS1 PRKAG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 PRKAG2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-07-03 2012-08-15 2014-11-19 100505483 ENSG00000239911 OTTHUMG00000157323 uc003wko.3 BC131560 NR_038926 PRKAG2-AS1 HGNC:40468 HGNC:40467 PRKAG2-AS2 PRKAG2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 Antisense RNAs 1987 2022-01-10 2022-01-10 644090 ENSG00000242048 OTTHUMG00000157325 NR_171033 HGNC:9387 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 protein-coding gene gene with protein product Approved 2q35 02q35 protein kinase, AMP-activated, gamma 3 non-catalytic subunit 2000-07-31 2016-01-27 2023-01-20 53632 ENSG00000115592 OTTHUMG00000133078 uc002vjb.2 AF214519 NM_017431 CCDS2424 Q9UGI9 10818001 MGI:1891343 RGD:1308698 604976 objectId:1547 HGNC:9387 -HGNC:9388 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha protein-coding gene gene with protein product Approved 17q24.2 17q24.2 CNC1 Carney complex type 1 "PRKAR1|TSE1" "tissue specific extinguisher 1|protein kinase, cAMP-dependent, regulatory, type I, alpha|protein kinase, cAMP-dependent, regulatory subunit type I alpha" Protein kinase A subunits 2144 1988-05-11 2016-01-27 2023-01-20 5573 ENSG00000108946 OTTHUMG00000180128 uc002jhh.5 NM_001276289 "CCDS62307|CCDS11678" P10644 "3479018|10973256" MGI:104878 RGD:3391 LRG_514|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_514.xml PRKAR1A 188830 118010 objectId:1472 2.7.11.1 HGNC:9388 "ENST00000589228.6|NM_002734.5" HGNC:9388 +HGNC:9388 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha protein-coding gene gene with protein product Approved 17q24.2 17q24.2 CNC1 Carney complex type 1 "PRKAR1|TSE1" "tissue specific extinguisher 1|protein kinase, cAMP-dependent, regulatory, type I, alpha|protein kinase, cAMP-dependent, regulatory subunit type I alpha" Protein kinase A subunits 2144 1988-05-11 2016-01-27 2023-01-20 5573 ENSG00000108946 OTTHUMG00000180128 uc002jhh.5 NM_001276289 "CCDS11678|CCDS62307" P10644 "3479018|10973256" MGI:104878 RGD:3391 LRG_514|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_514.xml PRKAR1A 188830 118010 objectId:1472 2.7.11.1 HGNC:9388 "ENST00000589228.6|NM_002734.5" HGNC:9388 HGNC:9389 PRKAR1AP1 protein kinase cAMP-dependent type I regulatory subunit alpha pseudogene 1 pseudogene pseudogene Approved 1p22.1 01p22.1 PRKAR1AP "protein kinase, cAMP-dependent, regulatory, type I, alpha pseudogene|protein kinase, cAMP-dependent, regulatory subunit type I alpha pseudogene" 1993-04-30 2016-01-27 2016-01-27 2016-01-27 5574 ENSG00000233401 OTTHUMG00000010291 L20252 NG_003073 8468054 PGOHUM00000244795 HGNC:9389 HGNC:9390 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "protein kinase, cAMP-dependent, regulatory, type I, beta|protein kinase, cAMP-dependent, regulatory subunit type I beta" Protein kinase A subunits 2144 1991-07-17 2016-01-27 2023-01-20 5575 ENSG00000188191 OTTHUMG00000151411 uc021zyj.1 M65066 NM_001164758 CCDS34579 P31321 "1358799|3479018" MGI:97759 RGD:3392 176911 423011 objectId:1473 2.7.11.1 HGNC:9390 "ENST00000537384.6|NM_001164760.2" HGNC:9390 HGNC:40470 PRKAR1B-AS1 PRKAR1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Antisense RNAs 1987 2019-10-03 2019-10-03 101926963 ENSG00000237181 OTTHUMG00000151414 NR_110054 HGNC:40470 HGNC:40469 PRKAR1B-AS2 PRKAR1B antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Antisense RNAs 1987 2019-10-03 2021-03-15 101927000 ENSG00000229380 OTTHUMG00000151415 NR_132384 33668685 HGNC:40469 -HGNC:9391 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha protein-coding gene gene with protein product Approved 3p21.31 03p21.31 PRKAR2 "protein kinase, cAMP-dependent, regulatory, type II, alpha|protein kinase, cAMP-dependent, regulatory subunit type II alpha" Protein kinase A subunits 2144 1988-07-18 2016-01-27 2023-01-20 5576 ENSG00000114302 OTTHUMG00000133540 uc003cux.2 NM_001321982 "CCDS82771|CCDS2778" P13861 9676433 MGI:108025 RGD:3393 176910 objectId:1474 2.7.11.1 HGNC:9391 "ENST00000265563.13|NM_004157.4" +HGNC:9391 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha protein-coding gene gene with protein product Approved 3p21.31 03p21.31 PRKAR2 "protein kinase, cAMP-dependent, regulatory, type II, alpha|protein kinase, cAMP-dependent, regulatory subunit type II alpha" Protein kinase A subunits 2144 1988-07-18 2016-01-27 2023-01-20 5576 ENSG00000114302 OTTHUMG00000133540 uc003cux.2 NM_001321982 "CCDS2778|CCDS82771" P13861 9676433 MGI:108025 RGD:3393 176910 objectId:1474 2.7.11.1 HGNC:9391 "ENST00000265563.13|NM_004157.4" HGNC:40471 PRKAR2A-AS1 PRKAR2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 PRKAR2A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100506637 ENSG00000224424 OTTHUMG00000156671 uc062jlz.1 NR_109996 PRKAR2A-AS1 HGNC:40471 HGNC:9392 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta protein-coding gene gene with protein product Approved 7q22.3 07q22.3 PRKAR2 "protein kinase, cAMP-dependent, regulatory, type II, beta|protein kinase, cAMP-dependent, regulatory subunit type II beta" Protein kinase A subunits 2144 1991-07-17 2016-01-27 2023-01-20 5577 ENSG00000005249 OTTHUMG00000137418 uc003vdx.4 NM_002736 CCDS5740 P31323 1358799 MGI:97760 RGD:3394 176912 objectId:1475 2.7.11.1 HGNC:9392 "ENST00000265717.5|NM_002736.3" HGNC:40472 PRKAR2B-AS1 PRKAR2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 Antisense RNAs 1987 2019-10-03 2019-10-03 105375441 ENSG00000243193 OTTHUMG00000157643 XR_007060469 HGNC:40472 @@ -26747,10 +26750,10 @@ HGNC:9403 PRKCH protein kinase C eta protein-coding gene gene with protein produ HGNC:55588 PRKCH-AS1 PRKCH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.1 14q23.1 Antisense RNAs 1987 2021-04-28 2021-04-28 121233923 ENSG00000247287 XR_007064202 HGNC:9404 PRKCI protein kinase C iota protein-coding gene gene with protein product Approved 3q26.2 03q26.2 PKCI DXS1179E protein kinase C, iota AGC family kinases 1625 1994-07-06 2016-01-27 2023-01-20 5584 ENSG00000163558 OTTHUMG00000150214 uc003fgs.3 NM_002740 CCDS3212 P41743 "7607695|11978974" MGI:99260 RGD:620961 600539 objectId:1490 2.7.11.13 HGNC:9404 "ENST00000295797.5|NM_002740.6" HGNC:55035 PRKCIP1 PRKCI pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-05-28 2020-05-28 158948 ENSG00000237682 NG_001563 -HGNC:9410 PRKCQ protein kinase C theta protein-coding gene gene with protein product Approved 10p15.1 10p15.1 protein kinase C, theta "C2 domain containing protein kinases|AGC family kinases" "835|1625" 1992-12-14 2016-01-27 2023-01-20 5588 ENSG00000065675 OTTHUMG00000017623 uc001ijj.3 L07032 NM_006257 "CCDS7079|CCDS60482|CCDS55701" Q04759 8444877 MGI:97601 RGD:620968 600448 objectId:1488 2.7.11.1 HGNC:9410 "ENST00000263125.10|NM_006257.5" +HGNC:9410 PRKCQ protein kinase C theta protein-coding gene gene with protein product Approved 10p15.1 10p15.1 protein kinase C, theta "C2 domain containing protein kinases|AGC family kinases" "835|1625" 1992-12-14 2016-01-27 2023-01-20 5588 ENSG00000065675 OTTHUMG00000017623 uc001ijj.3 L07032 NM_006257 "CCDS60482|CCDS55701|CCDS7079" Q04759 8444877 MGI:97601 RGD:620968 600448 objectId:1488 2.7.11.1 HGNC:9410 "ENST00000263125.10|NM_006257.5" HGNC:44689 PRKCQ-AS1 PRKCQ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 ENST00000414894.1 Antisense RNAs 1987 2012-12-04 2015-11-04 439949 ENSG00000237943 OTTHUMG00000017622 uc057rnq.1 NR_036502 26421281 PRKCQ-AS1 HGNC:44689 HGNC:9411 PRKCSH protein kinase C substrate 80K-H protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "VASAP-60|GIIB" "advanced glycation end-product receptor 2|glucosidase II beta subunit|glucosidase 2 subunit beta|hepatocystin" "G19P1|PCLD|PLD1" polycystic liver disease "EF-hand domain containing|MRH domain containing " "863|1233" 1989-06-06 2023-01-20 5589 ENSG00000130175 OTTHUMG00000182029 uc010dyb.5 NM_001001329 "CCDS45977|CCDS74286|CCDS32911" P14314 12529853 MGI:107877 RGD:1309628 177060 118020 2.7.11.1 HGNC:9411 "ENST00000677123.1|NM_001289104.2" HGNC:9411 -HGNC:9412 PRKCZ protein kinase C zeta protein-coding gene gene with protein product Approved 1p36.33 01p36.33 PKC2 protein kinase C, zeta AGC family kinases 1625 1991-08-06 2016-01-27 2023-01-20 5590 ENSG00000067606 OTTHUMG00000001238 uc001aiq.3 BC014270 NM_002744 "CCDS55563|CCDS41229|CCDS37" Q05513 MGI:97602 RGD:3399 176982 objectId:1491 2.7.11.1 HGNC:9412 "ENST00000378567.8|NM_002744.6" +HGNC:9412 PRKCZ protein kinase C zeta protein-coding gene gene with protein product Approved 1p36.33 01p36.33 PKC2 protein kinase C, zeta AGC family kinases 1625 1991-08-06 2016-01-27 2023-01-20 5590 ENSG00000067606 OTTHUMG00000001238 uc001aiq.3 BC014270 NM_002744 "CCDS37|CCDS55563|CCDS41229" Q05513 MGI:97602 RGD:3399 176982 objectId:1491 2.7.11.1 HGNC:9412 "ENST00000378567.8|NM_002744.6" HGNC:40477 PRKCZ-AS1 PRKCZ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 RP11-181G12.2 Antisense RNAs 1987 2016-11-18 2016-11-18 100506504 ENSG00000182873 OTTHUMG00000001239 NR_146290 26857641 HGNC:40477 HGNC:55824 PRKCZ-DT PRKCZ divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Divergent transcripts 1990 2021-07-30 2021-07-30 105378591 ENSG00000226969 NR_135509 HGNC:9407 PRKD1 protein kinase D1 protein-coding gene gene with protein product Approved 14q12 14q12 "PKCM|PKD|PKC-mu" PRKCM protein kinase C, mu Pleckstrin homology domain containing 682 1994-05-16 2004-10-30 2004-10-28 2023-01-20 5587 ENSG00000184304 OTTHUMG00000140203 uc001wqh.4 NM_002742 "CCDS9637|CCDS81796" Q15139 "8119958|10965134" MGI:99879 RGD:620964 605435 422348 objectId:1489 2.7.11.1 HGNC:9407 "ENST00000331968.11|NM_002742.3" HGNC:9407 @@ -26758,12 +26761,12 @@ HGNC:17293 PRKD2 protein kinase D2 protein-coding gene gene with protein product HGNC:9408 PRKD3 protein kinase D3 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 EPK2 PRKCN protein kinase C, nu Pleckstrin homology domain containing 682 1998-10-23 2004-10-30 2004-10-28 2023-01-20 23683 ENSG00000115825 OTTHUMG00000100961 uc002rqd.4 AB015982 NM_005813 CCDS1789 O94806 10231560 MGI:1922542 RGD:1310236 607077 objectId:2174 HGNC:9408 "ENST00000234179.8|NM_005813.6" HGNC:55762 PRKD3-DT PRKD3 divergent transcript non-coding RNA RNA, long non-coding Approved 2p22.2 02p22.2 Divergent transcripts 1990 2021-07-22 2021-07-22 2021-07-22 2021-07-22 101929542 ENSG00000232028 NR_183394 HGNC:9413 PRKDC protein kinase, DNA-activated, catalytic subunit protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "DNPK1|p350|DNAPK|XRCC7|DNA-PKcs|DNAPKc|DNA-PKC|p460" DNA-dependent protein kinase catalytic subunit "HYRC|HYRC1" protein kinase, DNA-activated, catalytic polypeptide Armadillo like helical domain containing 1492 1993-11-09 2018-06-18 2023-01-20 5591 ENSG00000253729 OTTHUMG00000164239 uc033bkh.1 NM_001081640 "CCDS75735|CCDS75734" P78527 7638222 MGI:104779 RGD:1308982 LRG_162|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_162.xml 600899 318754 objectId:2800 2.7.11.1 HGNC:9413 "ENST00000314191.7|NM_006904.7" HGNC:9413 -HGNC:9414 PRKG1 protein kinase cGMP-dependent 1 protein-coding gene gene with protein product Approved 10q11.23-q21.1 10q11.23-q21.1 "PGK|PKG|PKG1" "PRKGR1B|PRKG1B" protein kinase, cGMP-dependent, type I "AGC family kinases|MicroRNA protein coding host genes" "1625|1691" 1991-07-17 2018-04-18 2023-01-20 5592 ENSG00000185532 OTTHUMG00000018248 uc001jjm.4 NM_001098512 "CCDS44399|CCDS7244|CCDS91244" Q13976 "2792381|1544322" MGI:108174 RGD:1587390 LRG_1135|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1135.xml 176894 363279 objectId:1492 2.7.11.1 HGNC:9414 "ENST00000373980.11|NM_006258.4" HGNC:9414 +HGNC:9414 PRKG1 protein kinase cGMP-dependent 1 protein-coding gene gene with protein product Approved 10q11.23-q21.1 10q11.23-q21.1 "PGK|PKG|PKG1" "PRKGR1B|PRKG1B" protein kinase, cGMP-dependent, type I "AGC family kinases|MicroRNA protein coding host genes" "1625|1691" 1991-07-17 2018-04-18 2023-01-20 5592 ENSG00000185532 OTTHUMG00000018248 uc001jjm.4 NM_001098512 "CCDS7244|CCDS91244|CCDS44399" Q13976 "2792381|1544322" MGI:108174 RGD:1587390 LRG_1135|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1135.xml 176894 363279 objectId:1492 2.7.11.1 HGNC:9414 "ENST00000373980.11|NM_006258.4" HGNC:9414 HGNC:45029 PRKG1-AS1 PRKG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q21.1 10q21.1 RP11-573I11.2 Antisense RNAs 1987 2013-01-08 2016-12-21 100506939 ENSG00000236671 OTTHUMG00000018251 uc057thi.1 BC039504 NR_038277 27716329 PRKG1-AS1 HGNC:45029 -HGNC:9416 PRKG2 protein kinase cGMP-dependent 2 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "cGKII|PRKGR2|PKG2" protein kinase, cGMP-dependent, type II AGC family kinases 1625 1997-01-09 2018-04-18 2023-01-20 5593 ENSG00000138669 OTTHUMG00000130296 uc003hmh.3 X94612 NM_006259 "CCDS3589|CCDS75150|CCDS64005" Q13237 7498513 MGI:108173 RGD:3401 601591 objectId:1493 2.7.11.1 HGNC:9416 "ENST00000264399.6|NM_006259.3" +HGNC:9416 PRKG2 protein kinase cGMP-dependent 2 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "cGKII|PRKGR2|PKG2" protein kinase, cGMP-dependent, type II AGC family kinases 1625 1997-01-09 2018-04-18 2023-01-20 5593 ENSG00000138669 OTTHUMG00000130296 uc003hmh.3 X94612 NM_006259 "CCDS75150|CCDS3589|CCDS64005" Q13237 7498513 MGI:108173 RGD:3401 601591 objectId:1493 2.7.11.1 HGNC:9416 "ENST00000264399.6|NM_006259.3" HGNC:40478 PRKG2-AS1 PRKG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 Antisense RNAs 1987 2020-03-19 2020-03-19 101928942 ENSG00000251059 OTTHUMG00000160880 NR_125908 -HGNC:8607 PRKN parkin RBR E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 6q26 06q26 "PDJ|AR-JP|parkin" E3 ubiquitin ligase PARK2 "Parkinson disease (autosomal recessive, juvenile) 2, parkin|parkinson protein 2, E3 ubiquitin protein ligase (parkin)" RBR E3 ubiquitin ligases 1391 1997-08-18 2017-02-20 2013-10-03 2023-01-20 5071 ENSG00000185345 OTTHUMG00000015970 uc003qtx.5 NM_004562 "CCDS5283|CCDS5281|CCDS5282" O60260 "9560156|9570960" MGI:1355296 RGD:61797 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PARK2 602544 124080 HGNC:8607 "ENST00000366898.6|NM_004562.3" HGNC:8607 -HGNC:9438 PRKRA protein activator of interferon induced protein kinase EIF2AK2 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "PACT|RAX|HSD14|DYT16" "protein activator of the interferon-induced protein kinase|PKR-associated protein X" protein kinase, interferon-inducible double stranded RNA dependent activator 1999-12-07 2016-01-06 2023-05-10 8575 ENSG00000180228 OTTHUMG00000132576 uc002umf.3 AF072860 NM_003690 "CCDS2279|CCDS92908|CCDS46461|CCDS46460" O75569 "9687506|10336432" MGI:1344375 RGD:1306707 603424 213048 HGNC:9438 "ENST00000325748.9|NM_003690.5" HGNC:9438 +HGNC:8607 PRKN parkin RBR E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 6q26 06q26 "PDJ|AR-JP|parkin" E3 ubiquitin ligase PARK2 "Parkinson disease (autosomal recessive, juvenile) 2, parkin|parkinson protein 2, E3 ubiquitin protein ligase (parkin)" RBR E3 ubiquitin ligases 1391 1997-08-18 2017-02-20 2013-10-03 2023-01-20 5071 ENSG00000185345 OTTHUMG00000015970 uc003qtx.5 NM_004562 "CCDS5281|CCDS5283|CCDS5282" O60260 "9560156|9570960" MGI:1355296 RGD:61797 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PARK2 602544 124080 HGNC:8607 "ENST00000366898.6|NM_004562.3" HGNC:8607 +HGNC:9438 PRKRA protein activator of interferon induced protein kinase EIF2AK2 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "PACT|RAX|HSD14|DYT16" "protein activator of the interferon-induced protein kinase|PKR-associated protein X" protein kinase, interferon-inducible double stranded RNA dependent activator 1999-12-07 2016-01-06 2023-05-10 8575 ENSG00000180228 OTTHUMG00000132576 uc002umf.3 AF072860 NM_003690 "CCDS46460|CCDS2279|CCDS46461|CCDS92908" O75569 "9687506|10336432" MGI:1344375 RGD:1306707 603424 213048 HGNC:9438 "ENST00000325748.9|NM_003690.5" HGNC:9438 HGNC:33447 PRKRAP1 protein activator of interferon induced protein kinase EIF2AK2 pseudogene 1 pseudogene pseudogene Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene 1 2007-05-01 2016-02-24 2016-02-24 731716 XR_015579 HGNC:21894 PRKRIP1 PRKR interacting protein 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "C114|FLJ13902|KRBOX3" "likely ortholog of mouse C114 dsRNA-binding protein|KRAB box domain containing 3" PRKR interacting protein 1 (IL11 inducible) 2003-08-19 2017-08-04 2023-01-20 79706 ENSG00000128563 OTTHUMG00000157717 uc064gmw.1 AK023964 NM_024653 CCDS34714 Q9H875 12679338 MGI:1914051 RGD:1595708 617458 HGNC:21894 "ENST00000397912.3|NM_024653.4" HGNC:9441 PRKX protein kinase cAMP-dependent X-linked catalytic subunit protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 PKX1 protein kinase X-linked AGC family kinases 1625 1995-11-22 2022-07-15 2023-01-20 5613 ENSG00000183943 OTTHUMG00000021087 uc010nde.4 NM_005044 CCDS14125 P51817 "7633447|10026146|12082174" MGI:1309999 RGD:1564076 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRKX 300083 objectId:2175 2.7.11.1 HGNC:9441 "ENST00000262848.6|NM_005044.5" @@ -26774,38 +26777,38 @@ HGNC:9444 PRKY protein kinase Y-linked (pseudogene) pseudogene pseudogene Approv HGNC:9445 PRL prolactin protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "Growth hormone family|Neuropeptides" "1175|1902" 1986-01-01 2023-01-20 5617 ENSG00000172179 OTTHUMG00000016111 uc003ndp.4 D00411 NM_000948 CCDS4548 P01236 MGI:97762 RGD:3403 176760 ligandId:5049 HGNC:9445 "ENST00000306482.2|NM_000948.6" HGNC:17945 PRLH prolactin releasing hormone protein-coding gene gene with protein product Approved 2q37.3 02q37.3 PRH Neuropeptides 1902 2004-06-24 2023-01-20 51052 ENSG00000071677 OTTHUMG00000133296 uc010znl.2 AB015419 NM_015893 CCDS2519 P81277 9607765 MGI:3644668 RGD:628634 602663 ligandId:1873 HGNC:17945 "ENST00000165524.1|NM_015893.1" HGNC:4464 PRLHR prolactin releasing hormone receptor protein-coding gene gene with protein product Approved 10q26.11 10q26.11 PrRPR GPR10 G protein-coupled receptor 10 Peptide receptors 220 1995-01-25 2005-11-24 2005-11-24 2023-01-20 2834 ENSG00000119973 OTTHUMG00000019136 uc001ldp.2 AB048946 NM_004248 CCDS7606 P49683 "8666380|15885496" MGI:2135956 RGD:71037 600895 objectId:337 HGNC:4464 "ENST00000239032.4|NM_004248.3" -HGNC:9446 PRLR prolactin receptor protein-coding gene gene with protein product Approved 5p13.2 05p13.2 1989-12-01 2023-01-20 5618 ENSG00000113494 OTTHUMG00000090789 uc032uqm.2 NM_000949 "CCDS56358|CCDS3909|CCDS56360|CCDS56362|CCDS56361|CCDS56359" P16471 MGI:97763 RGD:3407 176761 400642 objectId:1721 HGNC:9446 "ENST00000618457.5|NM_000949.7" HGNC:9446 +HGNC:9446 PRLR prolactin receptor protein-coding gene gene with protein product Approved 5p13.2 05p13.2 1989-12-01 2023-01-20 5618 ENSG00000113494 OTTHUMG00000090789 uc032uqm.2 NM_000949 "CCDS56362|CCDS56359|CCDS56361|CCDS56358|CCDS3909|CCDS56360" P16471 MGI:97763 RGD:3407 176761 400642 objectId:1721 HGNC:9446 "ENST00000618457.5|NM_000949.7" HGNC:9446 HGNC:9447 PRM1 protamine 1 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 CT94.1 cancer/testis antigen family 94, member 1 1986-01-01 2023-01-20 5619 ENSG00000175646 OTTHUMG00000090521 uc002dav.4 NM_002761 CCDS10547 P04553 MGI:97765 RGD:1583873 182880 HGNC:9447 "ENST00000312511.4|NM_002761.3" -HGNC:9448 PRM2 protamine 2 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 CT94.2 cancer/testis antigen family 94, member 2 1990-02-24 2023-01-20 5620 ENSG00000122304 OTTHUMG00000172317 uc002dau.2 NM_001286356 "CCDS42118|CCDS66944" P04554 16632464 MGI:97766 RGD:3409 182890 HGNC:9448 "ENST00000241808.9|NM_002762.4" +HGNC:9448 PRM2 protamine 2 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 CT94.2 cancer/testis antigen family 94, member 2 1990-02-24 2023-01-20 5620 ENSG00000122304 OTTHUMG00000172317 uc002dau.2 NM_001286356 "CCDS66944|CCDS42118" P04554 16632464 MGI:97766 RGD:3409 182890 HGNC:9448 "ENST00000241808.9|NM_002762.4" HGNC:13732 PRM3 protamine 3 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 2000-10-19 2023-01-20 58531 ENSG00000178257 OTTHUMG00000172316 uc002dat.3 Z46940 NM_021247 CCDS76821 Q9NNZ6 "8720108|9827065" MGI:106601 RGD:1587265 HGNC:13732 "ENST00000327157.4|NM_021247.3" -HGNC:5187 PRMT1 protein arginine methyltransferase 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "HCP1|ANM1" highly conserved protein 1 HRMT1L2 "HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2|HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)" "MicroRNA protein coding host genes|7BS protein arginine methyltranferases" "1691|2057" 1996-10-02 2006-02-16 2006-02-16 2023-03-15 3276 ENSG00000126457 OTTHUMG00000167568 uc002ppe.4 D66904 NM_001536 "CCDS42592|CCDS74425|CCDS46145" Q99873 "9545638|8675017" MGI:107846 RGD:62020 602950 objectId:1252 2.1.1.319 HGNC:5187 "ENST00000454376.7|NM_001536.6" +HGNC:5187 PRMT1 protein arginine methyltransferase 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "HCP1|ANM1" highly conserved protein 1 HRMT1L2 "HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2|HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)" "MicroRNA protein coding host genes|7BS protein arginine methyltranferases" "1691|2057" 1996-10-02 2006-02-16 2006-02-16 2023-03-15 3276 ENSG00000126457 OTTHUMG00000167568 uc002ppe.4 D66904 NM_001536 "CCDS74425|CCDS46145|CCDS42592" Q99873 "9545638|8675017" MGI:107846 RGD:62020 602950 objectId:1252 2.1.1.319 HGNC:5187 "ENST00000454376.7|NM_001536.6" HGNC:49611 PRMT1P1 protein arginine methyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 2014-01-24 2014-11-19 100420910 ENSG00000270706 OTTHUMG00000184564 NG_024644 PGOHUM00000258198 HGNC:49611 -HGNC:5186 PRMT2 protein arginine methyltransferase 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 MGC111373 HRMT1L1 "HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1|HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)" 7BS protein arginine methyltranferases 2057 1996-10-02 2006-02-16 2006-02-16 2023-01-20 3275 ENSG00000160310 OTTHUMG00000048806 uc002zjx.5 U80213 NM_001535 "CCDS68230|CCDS13737|CCDS56219|CCDS74806|CCDS68231|CCDS56220" P55345 9545638 MGI:1316652 RGD:1565519 601961 objectId:1253 2.1.1.319 HGNC:5186 "ENST00000355680.8|NM_206962.4" -HGNC:30163 PRMT3 protein arginine methyltransferase 3 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 HRMT1L3 HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae) 7BS protein arginine methyltranferases 2057 2004-06-18 2006-02-16 2006-02-16 2023-01-20 10196 ENSG00000185238 OTTHUMG00000166022 uc001mqb.4 AF059531 NM_005788 "CCDS44554|CCDS7853" O60678 9642256 MGI:1919224 RGD:620413 603190 objectId:1254 HGNC:30163 "ENST00000331079.11|NM_005788.4" -HGNC:10894 PRMT5 protein arginine methyltransferase 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 SKB1Hs "HRMT1L5|SKB1" "skb1 (S. pombe) homolog|SKB1 homolog (S. pombe)" 7BS protein arginine methyltranferases 2057 1999-06-18 2006-02-16 2006-02-16 2023-01-20 10419 ENSG00000100462 OTTHUMG00000028709 uc001whm.2 AF015913 NM_001039619 "CCDS61394|CCDS61395|CCDS41922|CCDS9579|CCDS61396" O14744 9843966 MGI:1351645 RGD:1309053 604045 objectId:1256 2.1.1.320 HGNC:10894 "ENST00000324366.13|NM_006109.5" +HGNC:5186 PRMT2 protein arginine methyltransferase 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 MGC111373 HRMT1L1 "HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1|HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)" 7BS protein arginine methyltranferases 2057 1996-10-02 2006-02-16 2006-02-16 2023-01-20 3275 ENSG00000160310 OTTHUMG00000048806 uc002zjx.5 U80213 NM_001535 "CCDS13737|CCDS56220|CCDS68231|CCDS68230|CCDS56219|CCDS74806" P55345 9545638 MGI:1316652 RGD:1565519 601961 objectId:1253 2.1.1.319 HGNC:5186 "ENST00000355680.8|NM_206962.4" +HGNC:30163 PRMT3 protein arginine methyltransferase 3 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 HRMT1L3 HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae) 7BS protein arginine methyltranferases 2057 2004-06-18 2006-02-16 2006-02-16 2023-01-20 10196 ENSG00000185238 OTTHUMG00000166022 uc001mqb.4 AF059531 NM_005788 "CCDS7853|CCDS44554" O60678 9642256 MGI:1919224 RGD:620413 603190 objectId:1254 HGNC:30163 "ENST00000331079.11|NM_005788.4" +HGNC:10894 PRMT5 protein arginine methyltransferase 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 SKB1Hs "HRMT1L5|SKB1" "skb1 (S. pombe) homolog|SKB1 homolog (S. pombe)" 7BS protein arginine methyltranferases 2057 1999-06-18 2006-02-16 2006-02-16 2023-01-20 10419 ENSG00000100462 OTTHUMG00000028709 uc001whm.2 AF015913 NM_001039619 "CCDS61395|CCDS61396|CCDS41922|CCDS61394|CCDS9579" O14744 9843966 MGI:1351645 RGD:1309053 604045 objectId:1256 2.1.1.320 HGNC:10894 "ENST00000324366.13|NM_006109.5" HGNC:40533 PRMT5-AS1 PRMT5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 PRMT5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-18 100505758 ENSG00000237054 OTTHUMG00000149898 uc058zlo.1 AK093277 NR_120599 PRMT5-AS1 HGNC:40533 HGNC:55482 PRMT5-DT PRMT5 divergent transcript non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Divergent transcripts 1990 2021-03-11 2021-03-11 101926933 ENSG00000257285 NR_110002 HGNC:32524 PRMT5P1 protein arginine methyltransferase 5 pseudogene 1 pseudogene pseudogene Approved 4q31.22 04q31.22 2014-01-24 2014-01-24 100420927 ENSG00000249004 OTTHUMG00000161356 NG_025173 PGOHUM00000261903 HGNC:32524 HGNC:18241 PRMT6 protein arginine methyltransferase 6 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 FLJ10559 HRMT1L6 HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae) 7BS protein arginine methyltranferases 2057 2004-06-22 2006-02-16 2006-02-16 2023-01-20 55170 ENSG00000198890 OTTHUMG00000010964 uc010ous.4 AK001421 NM_018137 CCDS41360 Q96LA8 11724789 MGI:2139971 RGD:1304701 608274 objectId:1257 2.1.1.319 HGNC:18241 "ENST00000370078.2|NM_018137.3" -HGNC:25557 PRMT7 protein arginine methyltransferase 7 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ10640|KIAA1933" 7BS protein arginine methyltranferases 2057 2006-02-16 2023-01-20 54496 ENSG00000132600 OTTHUMG00000137556 uc059wfs.1 AK001502 NM_019023 "CCDS92184|CCDS10866|CCDS92187|CCDS54033" Q9NVM4 15044439 MGI:2384879 RGD:1304869 610087 466391 objectId:1258 HGNC:25557 "ENST00000441236.3|NM_019023.5" HGNC:25557 -HGNC:5188 PRMT8 protein arginine methyltransferase 8 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "HRMT1L3|HRMT1L4" "HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)|HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)" 7BS protein arginine methyltranferases 2057 2000-08-01 2006-02-16 2006-02-16 2023-01-20 56341 ENSG00000111218 OTTHUMG00000128493 uc001qmf.5 AF263539 NM_019854 "CCDS58200|CCDS8521" Q9NR22 16051612 MGI:3043083 RGD:1587677 610086 objectId:1259 HGNC:5188 "ENST00000382622.4|NM_019854.5" +HGNC:25557 PRMT7 protein arginine methyltransferase 7 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ10640|KIAA1933" 7BS protein arginine methyltranferases 2057 2006-02-16 2023-01-20 54496 ENSG00000132600 OTTHUMG00000137556 uc059wfs.1 AK001502 NM_019023 "CCDS92187|CCDS92184|CCDS54033|CCDS10866" Q9NVM4 15044439 MGI:2384879 RGD:1304869 610087 466391 objectId:1258 HGNC:25557 "ENST00000441236.3|NM_019023.5" HGNC:25557 +HGNC:5188 PRMT8 protein arginine methyltransferase 8 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "HRMT1L3|HRMT1L4" "HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)|HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)" 7BS protein arginine methyltranferases 2057 2000-08-01 2006-02-16 2006-02-16 2023-01-20 56341 ENSG00000111218 OTTHUMG00000128493 uc001qmf.5 AF263539 NM_019854 "CCDS8521|CCDS58200" Q9NR22 16051612 MGI:3043083 RGD:1587677 610086 objectId:1259 HGNC:5188 "ENST00000382622.4|NM_019854.5" HGNC:25099 PRMT9 protein arginine methyltransferase 9 protein-coding gene gene with protein product Approved 4q31.23 04q31.23 FLJ46629 PRMT10 protein arginine methyltransferase 10 (putative) 7BS protein arginine methyltranferases 2057 2009-05-15 2014-01-24 2014-01-24 2023-01-20 90826 ENSG00000164169 OTTHUMG00000161361 BC004337 NM_001304458 CCDS3771 Q6P2P2 "17708529|19300908|25737013" MGI:2142651 RGD:1306157 616125 objectId:1261 HGNC:25099 "ENST00000322396.7|NM_138364.4" HGNC:25099 HGNC:48942 PRNCR1 prostate cancer associated non-coding RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 PCAT8 prostate cancer associated transcript 8 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-07-18 2013-08-16 2013-08-16 2018-06-13 101867536 ENSG00000282961 OTTHUMG00000191472 AB458446 NR_109833 "20874843|23945587|24330491" 615452 prncr1 PRNCR1 HGNC:48942 HGNC:15748 PRND prion like protein doppel protein-coding gene gene with protein product Approved 20p13 20p13 "DPL|dJ1068H6.4|DOPPEL|PrPLP" "prion-like protein doppel|downstream prion protein-like gene" prion protein 2 (dublet) 2001-05-30 2017-02-15 2023-01-20 23627 ENSG00000171864 OTTHUMG00000031789 uc002wkz.5 AF106918 NM_012409 CCDS13081 Q9UKY0 "10525406|10577243" MGI:1346999 RGD:1306618 604263 HGNC:15748 "ENST00000305817.3|NM_012409.4" HGNC:9449 PRNP prion protein protein-coding gene gene with protein product Approved 20p13 20p13 "CD230|PRP|AltPrP" "Creutzfeldt-Jakob disease|Gerstmann-Strausler-Scheinker syndrome|fatal familial insomnia|p27-30" "PRIP|GSS|CJD" prion protein (p27-30) CD molecules 471 1986-01-01 2008-07-28 2023-01-20 5621 ENSG00000171867 OTTHUMG00000031786 uc021wae.3 M13899 NM_000311 CCDS13080 "F7VJQ1|P04156" MGI:97769 RGD:3410 Prion Protein/CJD database|http://www.mad-cow.org/~tom/prion_point_mutations.html 176640 118023 CD230 HGNC:9449 "ENST00000379440.9|NM_000311.5" HGNC:9449 HGNC:18046 PRNT prion locus lncRNA, testis expressed non-coding RNA RNA, long non-coding Approved 20p13 20p13 M8 M8 protein prion protein (testis specific) Long non-coding RNAs with non-systematic symbols 1992 2002-09-17 2017-02-15 2023-03-15 149830 ENSG00000180259 OTTHUMG00000031785 uc002wlb.4 "AL137296|AJ427539" NR_024267 Q86SH4 "12514748|20206252" HGNC:18046 HGNC:41906 PROB1 proline rich basic protein 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 C5orf65 chromosome 5 open reading frame 65 2011-08-15 2012-10-01 2016-06-06 2023-01-20 389333 ENSG00000228672 OTTHUMG00000185568 uc011czc.2 AK316483 NM_001161546 CCDS54909 E7EW31 MGI:2686460 RGD:1594845 HGNC:41906 "ENST00000434752.4|NM_001161546.2" -HGNC:9451 PROC protein C, inactivator of coagulation factors Va and VIIIa protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "prepro-protein C|coagulation factor XIV" protein C (inactivator of coagulation factors Va and VIIIa) "Receptor ligands|Gla domain containing" "542|1250" 2001-06-22 2015-11-18 2023-01-20 5624 ENSG00000115718 OTTHUMG00000131528 uc002tok.4 X02750 NM_000312 "CCDS92858|CCDS2145" P04070 "2991887|2437584|34655191" MGI:97771 RGD:3411 "3d Protein C Mutations Database|http://www.itb.cnr.it/procmd/|LRG_599|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_599.xml" 612283 118030 S01.218 ligandId:4475 3.4.21.69 HGNC:9451 "ENST00000234071.8|NM_000312.4" HGNC:9451 -HGNC:28600 PROCA1 protein interacting with cyclin A1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 MGC39650 proline-rich cyclin A1-interacting protein 2009-04-20 2009-04-20 2023-01-20 147011 ENSG00000167525 OTTHUMG00000132682 uc002hca.2 BC029574 NM_152465 "CCDS11239|CCDS92283" Q8NCQ7 15159402 MGI:1918274 RGD:1561727 617376 HGNC:28600 "ENST00000682792.1|NM_001366301.1" +HGNC:9451 PROC protein C, inactivator of coagulation factors Va and VIIIa protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "prepro-protein C|coagulation factor XIV" protein C (inactivator of coagulation factors Va and VIIIa) "Receptor ligands|Gla domain containing" "542|1250" 2001-06-22 2015-11-18 2023-01-20 5624 ENSG00000115718 OTTHUMG00000131528 uc002tok.4 X02750 NM_000312 "CCDS2145|CCDS92858" P04070 "2991887|2437584|34655191" MGI:97771 RGD:3411 "3d Protein C Mutations Database|http://www.itb.cnr.it/procmd/|LRG_599|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_599.xml" 612283 118030 S01.218 ligandId:4475 3.4.21.69 HGNC:9451 "ENST00000234071.8|NM_000312.4" HGNC:9451 +HGNC:28600 PROCA1 protein interacting with cyclin A1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 MGC39650 proline-rich cyclin A1-interacting protein 2009-04-20 2009-04-20 2023-01-20 147011 ENSG00000167525 OTTHUMG00000132682 uc002hca.2 BC029574 NM_152465 "CCDS92283|CCDS11239" Q8NCQ7 15159402 MGI:1918274 RGD:1561727 617376 HGNC:28600 "ENST00000682792.1|NM_001366301.1" HGNC:9452 PROCR protein C receptor protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "EPCR|CCD41|CD201" protein C receptor, endothelial CD molecules 471 2000-06-26 2015-12-16 2023-01-20 10544 ENSG00000101000 OTTHUMG00000032323 uc284prb.1 L35545 NM_006404 CCDS13248 Q9UNN8 "7929370|10518938" MGI:104596 RGD:1305991 LRG_638|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_638.xml 600646 258949 CD201 HGNC:9452 "ENST00000216968.5|NM_006404.5" HGNC:9453 PRODH proline dehydrogenase 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "HSPOX2|PRODH1|PIG6|PRODH2|TP53I6|POX" "proline oxidase|p53 Inducible gene 6" proline dehydrogenase (proline oxidase ) 1996-12-12 2016-04-27 2023-06-05 5625 ENSG00000100033 OTTHUMG00000150163 uc002zok.5 AF010310 NM_016335 "CCDS56223|CCDS13754" O43272 "9385373|10192398|15662599" MGI:97770 RGD:1590932 606810 118032 1.5.5.2 HGNC:9453 "ENST00000357068.11|NM_016335.6" HGNC:9453 HGNC:17325 PRODH2 proline dehydrogenase 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 HSPOX1 Hydroxyproline dehydrogenase proline dehydrogenase (oxidase) 2 2002-01-03 2016-04-27 2023-06-05 58510 ENSG00000250799 OTTHUMG00000180688 uc002obx.1 U80018 NM_021232 CCDS12478 Q9UF12 MGI:1929093 RGD:1306761 616377 "1.5.5.2|1.5.5.3" HGNC:17325 "ENST00000653904.2|NM_021232.2" HGNC:17325 HGNC:56289 PRODHLP proline dehydrogenase like, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 2022-08-22 2022-08-22 440792 ENSG00000161132 NG_005508 PGOHUM00000297636 -HGNC:18454 PROK1 prokineticin 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "PK1|PRK1|EGVEGF|EG-VEGF" "black mamba toxin-related protein|mambakine|Endocrine gland-derived vascular endothelial growth factor" "Receptor ligands|Prokineticin family" "542|2243" 2002-07-22 2023-06-05 84432 ENSG00000143125 OTTHUMG00000011569 uc001dzs.4 AF333024 NM_032414 CCDS825 P58294 11259612 MGI:2180370 RGD:620898 606233 ligandId:1866 HGNC:18454 "ENST00000271331.4|NM_032414.3" -HGNC:18455 PROK2 prokineticin 2 protein-coding gene gene with protein product Approved 3p13 03p13 "PK2|BV8|MIT1|KAL4" protein Bv8 homolog "Receptor ligands|Prokineticin family" "542|2243" 2002-07-22 2023-01-20 60675 ENSG00000163421 OTTHUMG00000158809 uc003doz.5 AF333025 NM_001126128 "CCDS2916|CCDS46868" Q9HC23 "11054548|11259612" MGI:1354178 RGD:620280 607002 118039 ligandId:1867 HGNC:18455 "ENST00000295619.4|NM_001126128.2" HGNC:18455 +HGNC:18454 PROK1 prokineticin 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "PK1|PRK1|EGVEGF|EG-VEGF" "black mamba toxin-related protein|mambakine|Endocrine gland-derived vascular endothelial growth factor" "Receptor ligands|Prokineticin family" "542|2243" 2002-07-22 2023-06-15 84432 ENSG00000143125 OTTHUMG00000011569 uc001dzs.4 AF333024 NM_032414 CCDS825 P58294 11259612 MGI:2180370 RGD:620898 606233 ligandId:1866 HGNC:18454 "ENST00000271331.4|NM_032414.3" +HGNC:18455 PROK2 prokineticin 2 protein-coding gene gene with protein product Approved 3p13 03p13 "PK2|BV8|MIT1|KAL4" protein Bv8 homolog "Receptor ligands|Prokineticin family" "542|2243" 2002-07-22 2023-06-15 60675 ENSG00000163421 OTTHUMG00000158809 uc003doz.5 AF333025 NM_001126128 "CCDS46868|CCDS2916" Q9HC23 "11054548|11259612" MGI:1354178 RGD:620280 607002 118039 ligandId:1867 HGNC:18455 "ENST00000295619.4|NM_001126128.2" HGNC:18455 HGNC:4524 PROKR1 prokineticin receptor 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "PKR1|ZAQ|GPR73a" GPR73 G protein-coupled receptor 73 Prokineticin receptors 216 1999-07-30 2006-02-15 2006-02-15 2023-01-20 10887 ENSG00000169618 OTTHUMG00000129567 uc010yqj.3 AF506287 NM_138964 CCDS1889 Q8TCW9 10760605 MGI:1929676 RGD:708443 607122 objectId:335 HGNC:4524 "ENST00000303786.5|NM_138964.4" HGNC:15836 PROKR2 prokineticin receptor 2 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "GPR73b|PKR2|GPRg2|dJ680N4.3" "GPR73L1|KAL3" "G protein-coupled receptor 73-like 1|Kallmann syndrome 3 (autosomal dominant)" Prokineticin receptors 216 2001-09-17 2006-02-15 2006-02-15 2023-01-20 128674 ENSG00000101292 OTTHUMG00000031800 uc010zqw.3 AL121755 NM_144773 CCDS13089 Q8NFJ6 "11886876|17054399" MGI:2181363 RGD:708445 607123 118044 objectId:336 HGNC:15836 "ENST00000678254.1|NM_144773.4" HGNC:15836 -HGNC:9454 PROM1 prominin 1 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "AC133|CD133|RP41|CORD12" "AC133 antigen|Retinitis pigmentosa 41, Cone-rod dystrophy 12" "PROML1|MCDR2|STGD4" "prominin (mouse)-like 1|macular dystrophy, retinal 2|Stargardt disease 4 (autosomal dominant)" "CD molecules|Prominin family" "471|2244" 1999-04-15 2003-03-28 2001-11-28 2023-06-06 8842 ENSG00000007062 OTTHUMG00000160180 uc062vja.1 AF027208 NM_006017 "CCDS54746|CCDS47029|CCDS54747|CCDS54748|CCDS93482|CCDS93483" O43490 11467842 MGI:1100886 RGD:69367 "Mutations of the Prominin (mouse)-like 1 gene (PROML1)|http://www.retina-international.org/files/sci-news/promlmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PROM1" 604365 159821 CD133 HGNC:9454 "ENST00000447510.7|NM_006017.3" HGNC:9454 +HGNC:9454 PROM1 prominin 1 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "AC133|CD133|RP41|CORD12" "AC133 antigen|Retinitis pigmentosa 41, Cone-rod dystrophy 12" "PROML1|MCDR2|STGD4" "prominin (mouse)-like 1|macular dystrophy, retinal 2|Stargardt disease 4 (autosomal dominant)" "CD molecules|Prominin family" "471|2244" 1999-04-15 2003-03-28 2001-11-28 2023-06-06 8842 ENSG00000007062 OTTHUMG00000160180 uc062vja.1 AF027208 NM_006017 "CCDS54747|CCDS93482|CCDS93483|CCDS47029|CCDS54748|CCDS54746" O43490 11467842 MGI:1100886 RGD:69367 "Mutations of the Prominin (mouse)-like 1 gene (PROML1)|http://www.retina-international.org/files/sci-news/promlmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PROM1" 604365 159821 CD133 HGNC:9454 "ENST00000447510.7|NM_006017.3" HGNC:9454 HGNC:20685 PROM2 prominin 2 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 Prominin family 2244 2003-03-25 2023-06-06 150696 ENSG00000155066 OTTHUMG00000130393 uc002sui.4 AF245303 NM_144707 CCDS2012 Q8N271 12514187 MGI:2138997 RGD:621435 617160 HGNC:20685 "ENST00000317620.14|NM_001165978.3" HGNC:9455 PROP1 PROP paired-like homeobox 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 prophet of Pit1, paired-like homeodomain transcription factor PRD class homeoboxes and pseudogenes 521 1998-02-02 2007-07-12 2023-01-20 5626 ENSG00000175325 OTTHUMG00000130887 uc003mif.1 AF076215 NM_006261 CCDS4430 O75360 9462743 MGI:109330 RGD:628759 601538 8504 118051 HGNC:9455 "ENST00000308304.2|NM_006261.5" HGNC:9455 HGNC:19958 PRORP protein only RNase P catalytic subunit protein-coding gene gene with protein product Approved 14q13.2 14q13.2 MRPP3 "mitochondrial RNase P subunit 3|proteinaceous RNase P" KIAA0391 KIAA0391 "Mitochondrial RNase P complex|Pentatricopeptide repeat containing" "1534|1823" 2003-11-21 2019-04-12 2019-04-12 2023-01-20 9692 ENSG00000100890 OTTHUMG00000170997 uc001wsy.3 AB002389 NM_014672 "CCDS32063|CCDS58313|CCDS58312|CCDS58314" O15091 "9205841|18984158" MGI:1913382 RGD:1305089 609947 HGNC:19958 "ENST00000534898.9|NM_014672.4" @@ -26813,13 +26816,13 @@ HGNC:34379 PRORSD1P prolyl-tRNA synthetase associated domain containing 1, pseud HGNC:38732 PRORY PRORY Y-linked lncRNA protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 CYorf17 "chromosome Y open reading frame 17|proline rich Y-linked" Long non-coding RNAs with non-systematic symbols 1992 2010-07-28 2014-05-22 2022-05-26 2023-03-15 100533178 ENSG00000183146 OTTHUMG00000042036 AK026367 NR_170372 Q9H606 33650819 HGNC:38732 HGNC:9456 PROS1 protein S protein-coding gene gene with protein product Approved 3q11.1 03q11.1 PROS protein S (alpha) Gla domain containing 1250 1986-01-01 2017-08-08 2023-01-20 5627 ENSG00000184500 OTTHUMG00000150354 uc003drb.5 NM_000313 "CCDS2923|CCDS93325" P07225 "214811|1833851|23958677" MGI:1095733 RGD:620971 "Protein S Deficiency: A database of Mutations|http://www.isth.org/|LRG_572|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_572.xml" 176880 118053 ligandId:5050 HGNC:9456 "ENST00000394236.9|NM_000313.4" HGNC:9456 HGNC:9458 PROS2P protein S (beta) pseudogene pseudogene pseudogene Approved 3p11.1 03p11.1 "PROS2|PROSP" protein S 2 1989-05-10 2015-03-19 2015-03-19 2015-03-19 5628 ENSG00000189002 OTTHUMG00000159045 NG_001179 2148112 PGOHUM00000250250 HGNC:9458 -HGNC:20291 PROSER1 proline and serine rich 1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "bA50D16.2|FLJ12661" C13orf23 chromosome 13 open reading frame 23 2004-04-16 2011-08-09 2011-08-09 2023-01-20 80209 ENSG00000120685 OTTHUMG00000016764 uc001uwy.5 AK022723 NM_025138 "CCDS45041|CCDS9368" Q86XN7 MGI:1919933 RGD:1309403 HGNC:20291 "ENST00000352251.8|NM_025138.5" +HGNC:20291 PROSER1 proline and serine rich 1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "bA50D16.2|FLJ12661" C13orf23 chromosome 13 open reading frame 23 2004-04-16 2011-08-09 2011-08-09 2023-01-20 80209 ENSG00000120685 OTTHUMG00000016764 uc001uwy.5 AK022723 NM_025138 "CCDS9368|CCDS45041" Q86XN7 MGI:1919933 RGD:1309403 HGNC:20291 "ENST00000352251.8|NM_025138.5" HGNC:23728 PROSER2 proline and serine rich 2 protein-coding gene gene with protein product Approved 10p14 10p14 MGC35403 C10orf47 "chromosome 10 open reading frame 47|proline and serine-rich protein 2" 2003-12-08 2012-12-05 2014-02-19 2023-01-20 254427 ENSG00000148426 OTTHUMG00000017673 uc001ikx.3 BC017269 NM_153256 CCDS7085 Q86WR7 12477932 MGI:2442238 RGD:1586830 HGNC:23728 "ENST00000277570.10|NM_153256.4" HGNC:27343 PROSER2-AS1 PROSER2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Antisense RNAs 1987 2012-12-05 2014-11-19 219731 ENSG00000225778 OTTHUMG00000017674 uc001iky.3 NR_038222 PROSER2-AS1 HGNC:27343 -HGNC:25204 PROSER3 proline and serine rich 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ30657 C19orf55 chromosome 19 open reading frame 55 2006-08-21 2014-05-30 2014-05-30 2023-03-15 148137 ENSG00000167595 OTTHUMG00000168103 AK055219 NM_144692 "CCDS46056|CCDS92595" Q2NL68 14702039 MGI:2681861 RGD:1565712 HGNC:25204 "ENST00000646935.2|NM_001367856.1" +HGNC:25204 PROSER3 proline and serine rich 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ30657 C19orf55 chromosome 19 open reading frame 55 2006-08-21 2014-05-30 2014-05-30 2023-03-15 148137 ENSG00000167595 OTTHUMG00000168103 AK055219 NM_144692 "CCDS92595|CCDS46056" Q2NL68 14702039 MGI:2681861 RGD:1565712 HGNC:25204 "ENST00000646935.2|NM_001367856.1" HGNC:9459 PROX1 prospero homeobox 1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 prospero-related homeobox 1 PROS class homeoboxes 528 1998-05-18 2007-06-01 2023-01-20 5629 ENSG00000117707 OTTHUMG00000036946 uc057pjq.1 U44060 NM_002763 CCDS31021 Q92786 8812486 MGI:97772 RGD:1306890 601546 8505 470912 HGNC:9459 "ENST00000366958.9|NM_001270616.2" HGNC:43656 PROX1-AS1 PROX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 PROX1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2015-08-03 100505832 ENSG00000230461 OTTHUMG00000036947 uc031psa.2 AK092251 NR_037850 PROX1-AS1 HGNC:43656 -HGNC:26715 PROX2 prospero homeobox 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ36749 PROS class homeoboxes 528 2007-02-15 2023-01-20 283571 ENSG00000119608 OTTHUMG00000171481 uc059dkf.1 NM_001080408 "CCDS73663|CCDS45136" Q3B8N5 MGI:1920672 RGD:1310315 615094 8632 HGNC:26715 "ENST00000556489.4|NM_001243007.2" +HGNC:26715 PROX2 prospero homeobox 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ36749 PROS class homeoboxes 528 2007-02-15 2023-01-20 283571 ENSG00000119608 OTTHUMG00000171481 uc059dkf.1 NM_001080408 "CCDS45136|CCDS73663" Q3B8N5 MGI:1920672 RGD:1310315 615094 8632 HGNC:26715 "ENST00000556489.4|NM_001243007.2" HGNC:9460 PROZ protein Z, vitamin K dependent plasma glycoprotein protein-coding gene gene with protein product Approved 13q34 13q34 PZ protein Z, vitamin K-dependent plasma glycoprotein Gla domain containing 1250 1999-06-03 2016-04-05 2023-01-20 8858 ENSG00000126231 OTTHUMG00000017376 uc001vta.3 M55670 NM_003891 "CCDS58300|CCDS9531" P22891 "2244898|2403355" MGI:1860488 RGD:1308666 LRG_573|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_573.xml 176895 391022 S01.979 HGNC:9460 "ENST00000375547.7|NM_003891.3" HGNC:17348 PRPF3 pre-mRNA processing factor 3 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "Prp3|hPrp3|SNRNP90" U4/U6 small nuclear ribonucleoprotein Prp3 RP18 "retinitis pigmentosa 18 (autosomal dominant)|PRP3 pre-mRNA processing factor 3 homolog (yeast)|PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)" U4/U6 small nuclear ribonucleoprotein particle 1502 2003-12-05 2013-06-10 2023-06-06 9129 ENSG00000117360 OTTHUMG00000012807 uc001eum.5 AF001947 NM_004698 CCDS951 O43395 "9404889|17517693" MGI:1918017 RGD:1310555 607301 118056 HGNC:17348 "ENST00000324862.7|NM_004698.4" HGNC:17348 HGNC:17349 PRPF4 pre-mRNA processing factor 4 protein-coding gene gene with protein product Approved 9q32 09q32 "Prp4p|HPRP4|HPRP4P|PRP4|SNRNP60" "PRP4/STK/WD splicing factor|U4/U6 small nuclear ribonucleoprotein Prp4" PRP4 pre-mRNA processing factor 4 homolog (yeast) "WD repeat domain containing|U4/U6 small nuclear ribonucleoprotein particle" "362|1502" 2002-05-03 2013-10-03 2023-01-20 9128 ENSG00000136875 OTTHUMG00000020517 uc004bgx.4 AF001687 NM_004697 "CCDS59142|CCDS6791" O43172 "9257651|9404889" MGI:1917302 RGD:1311303 607795 403096 HGNC:17349 "ENST00000374198.5|NM_001244926.2" HGNC:17349 @@ -26836,10 +26839,10 @@ HGNC:40700 PRPF31-AS1 PRPF31 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:25930 PRPF38A pre-mRNA processing factor 38A protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "FLJ14936|Prp38" PRP38 pre-mRNA processing factor 38 (yeast) domain containing A Spliceosomal B complex 1507 2005-05-24 2013-10-03 2023-03-15 84950 ENSG00000134748 OTTHUMG00000008199 uc001ctv.5 AK092038 NM_032864 CCDS567 Q8NAV1 12477932 MGI:1916962 RGD:1311129 617031 HGNC:25930 "ENST00000257181.10|NM_032864.4" HGNC:44692 PRPF38AP1 PRP38 domain containing A pseudogene 1 pseudogene pseudogene Approved 10p14 10p14 2012-12-04 2012-12-04 389935 ENSG00000225053 OTTHUMG00000017644 NG_022160 PGOHUM00000238671 HGNC:44692 HGNC:44693 PRPF38AP2 PRP38 domain containing A pseudogene 2 pseudogene pseudogene Approved 10p12.33 10p12.33 2012-12-04 2012-12-04 100131947 ENSG00000236582 OTTHUMG00000017752 NG_022162 PGOHUM00000238679 HGNC:44693 -HGNC:25512 PRPF38B pre-mRNA processing factor 38B protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ10330|NET1" PRP38 pre-mRNA processing factor 38 (yeast) domain containing B 2005-05-24 2013-10-03 2023-01-20 55119 ENSG00000134186 OTTHUMG00000010991 uc001dvv.5 AL833950 NM_018061 "CCDS788|CCDS86003" Q5VTL8 29348822 MGI:1914171 RGD:1562940 HGNC:25512 "ENST00000370025.9|NM_018061.4" +HGNC:25512 PRPF38B pre-mRNA processing factor 38B protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ10330|NET1" PRP38 pre-mRNA processing factor 38 (yeast) domain containing B 2005-05-24 2013-10-03 2023-01-20 55119 ENSG00000134186 OTTHUMG00000010991 uc001dvv.5 AL833950 NM_018061 "CCDS86003|CCDS788" Q5VTL8 29348822 MGI:1914171 RGD:1562940 HGNC:25512 "ENST00000370025.9|NM_018061.4" HGNC:20314 PRPF39 pre-mRNA processing factor 39 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 "FLJ20666|FLJ11128" "PRP39 pre-mRNA processing factor 39 homolog (yeast)|PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)" Small nucleolar RNA protein coding host genes 1835 2003-01-22 2013-10-03 2023-01-20 55015 ENSG00000185246 OTTHUMG00000140265 uc001wvz.4 AK000673 NM_017922 CCDS9682 Q86UA1 MGI:104602 RGD:1308702 614907 HGNC:20314 "ENST00000355765.11|NM_017922.4" HGNC:55576 PRPF39-DT PRPF39 divergent transcript non-coding RNA RNA, long non-coding Approved 14q21.2 14q21.2 Divergent transcripts 1990 2021-04-23 2021-04-23 105370474 ENSG00000249163 NR_184211 -HGNC:16463 PRPF40A pre-mRNA processing factor 40 homolog A protein-coding gene gene with protein product Approved 2q23.3 02q23.3 "FLJ20585|FBP11|HYPA|NY-REN-6|HIP10|FBP-11|FLAF1|Prp40" FNBP3 "formin-binding protein 3|formin binding protein 3|PRP40 pre-mRNA processing factor 40 homolog A (yeast)|PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)|PRP40 pre-mRNA processing factor 40 homolog A" Spliceosomal A complex 1504 2001-08-28 2006-01-13 2015-11-27 2023-03-15 55660 ENSG00000196504 OTTHUMG00000154031 uc002tyh.5 AF049523 NM_017892 "CCDS92878|CCDS92876|CCDS92877|CCDS92879" O75400 "9724750|12460579" MGI:1860512 RGD:1311401 612941 HGNC:16463 "ENST00000545856.8|NM_001365597.4" +HGNC:16463 PRPF40A pre-mRNA processing factor 40 homolog A protein-coding gene gene with protein product Approved 2q23.3 02q23.3 "FLJ20585|FBP11|HYPA|NY-REN-6|HIP10|FBP-11|FLAF1|Prp40" FNBP3 "formin-binding protein 3|formin binding protein 3|PRP40 pre-mRNA processing factor 40 homolog A (yeast)|PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)|PRP40 pre-mRNA processing factor 40 homolog A" Spliceosomal A complex 1504 2001-08-28 2006-01-13 2015-11-27 2023-03-15 55660 ENSG00000196504 OTTHUMG00000154031 uc002tyh.5 AF049523 NM_017892 "CCDS92879|CCDS92877|CCDS92876|CCDS92878" O75400 "9724750|12460579" MGI:1860512 RGD:1311401 612941 HGNC:16463 "ENST00000545856.8|NM_001365597.4" HGNC:25031 PRPF40B pre-mRNA processing factor 40 homolog B protein-coding gene gene with protein product Approved 12q13.12 12q13.12 HYPC Huntingtin interacting protein C "PRP40 pre-mRNA processing factor 40 homolog B (yeast)|PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)|PRP40 homolog, pre-mRNA processing factor B" 2006-01-13 2015-11-27 2023-03-15 25766 ENSG00000110844 OTTHUMG00000169568 uc001rus.3 AF049525 NM_012272 "CCDS86298|CCDS31796" Q6NWY9 "9700202|25605964" MGI:1925583 RGD:1565411 LRG_625|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_625.xml HGNC:25031 "ENST00000548825.7|NM_001031698.3" HGNC:9461 PRPH peripherin protein-coding gene gene with protein product Approved 12q13.12 12q13.12 PRPH1 NEF4 Intermediate filaments Type III 610 1992-02-27 2023-01-20 5630 ENSG00000135406 OTTHUMG00000167140 uc001rtu.4 NM_006262 CCDS8783 P41219 1378416 MGI:97774 RGD:3414 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 170710 209470 HGNC:9461 "ENST00000257860.9|NM_006262.4" HGNC:9461 HGNC:9942 PRPH2 peripherin 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TSPAN22|rd2|CACD2" "retinal peripherin|tetraspanin-22|choroidal dystrophy, central areolar 2" "RP7|RDS" "retinal degeneration, slow (retinitis pigmentosa 7)|retinal degeneration, slow|peripherin 2 (retinal degeneration, slow)" Tetraspanins 768 1990-03-06 2006-11-23 2016-06-01 2023-01-20 5961 ENSG00000112619 OTTHUMG00000014701 uc003osk.4 NM_000322 CCDS4871 P23942 1749427 MGI:102791 RGD:3549 179605 118070 HGNC:9942 "ENST00000230381.7|NM_000322.5" HGNC:9942 @@ -26848,12 +26851,12 @@ HGNC:9463 PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 protein-codin HGNC:39427 PRPS1P1 phosphoribosyl pyrophosphate synthetase 1 pseudogene 1 pseudogene pseudogene Approved 2q24.3 02q24.3 2010-12-13 2010-12-14 2011-01-05 100861436 ENSG00000226847 OTTHUMG00000153936 NG_032007 PGOHUM00000241005 HGNC:39427 HGNC:9464 PRPS1P2 phosphoribosyl pyrophosphate synthetase 1 pseudogene 2 pseudogene pseudogene Approved 9q33.3 09q33.3 PRPS1L2 phosphoribosyl pyrophosphate synthetase 1-like 2 1989-05-10 2010-12-13 2010-12-13 2020-04-20 100421295 ENSG00000232630 OTTHUMG00000020669 NG_023956 "1962753|2536962" PGOHUM00000236770 HGNC:9464 HGNC:9465 PRPS2 phosphoribosyl pyrophosphate synthetase 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "PRS II|ribose-phosphate diphosphokinase 2" 2001-06-22 2023-01-20 5634 ENSG00000101911 OTTHUMG00000021139 uc004cvb.4 Y00971 NM_002765 "CCDS14150|CCDS43918" P11908 1962753 MGI:97776 RGD:3415 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRPS2 311860 2.7.6.1 HGNC:9465 "ENST00000380668.10|NM_002765.5" -HGNC:9466 PRPSAP1 phosphoribosyl pyrophosphate synthetase associated protein 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 PAP39 1995-05-01 2016-07-01 2023-01-20 5635 ENSG00000161542 OTTHUMG00000155969 uc010wta.2 D61391 NM_002766 "CCDS82209|CCDS11743" Q14558 8660991 MGI:1915013 RGD:620206 601249 HGNC:9466 "ENST00000446526.8|NM_002766.3" -HGNC:9467 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 PAP41 phosphoribosyl pyrophosphate synthetase-associated protein 2 1998-05-15 2016-04-01 2023-01-20 5636 ENSG00000141127 OTTHUMG00000059406 uc010vyj.3 AB007851 NM_002767 "CCDS58525|CCDS58526|CCDS58527|CCDS11200" O60256 9806849 MGI:2384838 RGD:620207 603762 HGNC:9467 "ENST00000268835.7|NM_002767.4" -HGNC:21149 PRR3 proline rich 3 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "CAT56|Em:AB014077.1|Em:AB023052.2" proline-rich polpeptide 3 Zinc fingers CCCH-type 73 2003-05-21 2004-05-27 2023-01-20 80742 ENSG00000204576 OTTHUMG00000031037 uc003nqi.3 AK074531 NM_025263 "CCDS43440|CCDS43441" P79522 MGI:1922460 RGD:1303270 HGNC:21149 "ENST00000376560.8|NM_025263.4" +HGNC:9466 PRPSAP1 phosphoribosyl pyrophosphate synthetase associated protein 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 PAP39 1995-05-01 2016-07-01 2023-01-20 5635 ENSG00000161542 OTTHUMG00000155969 uc010wta.2 D61391 NM_002766 "CCDS11743|CCDS82209" Q14558 8660991 MGI:1915013 RGD:620206 601249 HGNC:9466 "ENST00000446526.8|NM_002766.3" +HGNC:9467 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 PAP41 phosphoribosyl pyrophosphate synthetase-associated protein 2 1998-05-15 2016-04-01 2023-01-20 5636 ENSG00000141127 OTTHUMG00000059406 uc010vyj.3 AB007851 NM_002767 "CCDS58526|CCDS11200|CCDS58527|CCDS58525" O60256 9806849 MGI:2384838 RGD:620207 603762 HGNC:9467 "ENST00000268835.7|NM_002767.4" +HGNC:21149 PRR3 proline rich 3 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "CAT56|Em:AB014077.1|Em:AB023052.2" proline-rich polpeptide 3 Zinc fingers CCCH-type 73 2003-05-21 2004-05-27 2023-01-20 80742 ENSG00000204576 OTTHUMG00000031037 uc003nqi.3 AK074531 NM_025263 "CCDS43441|CCDS43440" P79522 MGI:1922460 RGD:1303270 HGNC:21149 "ENST00000376560.8|NM_025263.4" HGNC:56391 PRR3P1 PRR3 pseudogene 1 pseudogene pseudogene Approved 3p25.1 03p25.1 2022-10-18 2022-10-18 100128772 ENSG00000223398 PGOHUM00000298952 HGNC:18020 PRR4 proline rich 4 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 LPRP PROL4 proline rich 4 (lacrimal) 2002-01-21 2004-05-28 2018-02-09 2023-01-20 11272 ENSG00000111215 OTTHUMG00000168522 uc001qyz.5 NM_007244 "CCDS55804|CCDS41756" Q16378 7544782 "MGI:1927478|MGI:2681872|MGI:3645847" RGD:735181 605359 HGNC:18020 "ENST00000228811.8|NM_007244.3" -HGNC:31682 PRR5 proline rich 5 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "PP610|FLJ20185k|Protor-1.|PROTOR1" protein observed with Rictor-1 proline rich 5 (renal) MTOR complex 2 1333 2006-03-16 2015-12-07 2023-01-20 55615 ENSG00000186654 OTTHUMG00000150460 uc010gzt.2 AF177331 NM_001017528 "CCDS74875|CCDS56232|CCDS14058|CCDS14059" P85299 "15718101|17599906" MGI:1924714 RGD:1307954 609406 HGNC:31682 "ENST00000336985.11|NM_181333.4" +HGNC:31682 PRR5 proline rich 5 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "PP610|FLJ20185k|Protor-1.|PROTOR1" protein observed with Rictor-1 proline rich 5 (renal) MTOR complex 2 1333 2006-03-16 2015-12-07 2023-01-20 55615 ENSG00000186654 OTTHUMG00000150460 uc010gzt.2 AF177331 NM_001017528 "CCDS14058|CCDS14059|CCDS56232|CCDS74875" P85299 "15718101|17599906" MGI:1924714 RGD:1307954 609406 HGNC:31682 "ENST00000336985.11|NM_181333.4" HGNC:34512 PRR5-ARHGAP8 PRR5-ARHGAP8 readthrough other readthrough Approved 22q13.31 22q13.31 2009-11-05 2023-03-15 553158 ENSG00000248405 OTTHUMG00000160954 uc062ezy.1 NM_181334 MGI:1920417 HGNC:34512 HGNC:25878 PRR5L proline rich 5 like protein-coding gene gene with protein product Approved 11p13-p12 11p13-p12 "FLJ14213|PROTOR-2" protein observed with Rictor-2 2009-05-29 2023-01-20 79899 ENSG00000135362 OTTHUMG00000166334 uc001mwo.5 NM_024841 "CCDS31463|CCDS53617" Q6MZQ0 17461779 MGI:1919696 RGD:1309969 611728 HGNC:25878 "ENST00000530639.6|NM_001160167.2" HGNC:28130 PRR7 proline rich 7, synaptic protein-coding gene gene with protein product Approved 5q35.3 05q35.3 MGC10772 proline rich 7 (synaptic) 2005-01-20 2016-09-09 2023-01-20 80758 ENSG00000131188 OTTHUMG00000130861 uc003mgu.2 BC021240 NM_030567 CCDS4419 Q8TB68 15629447 MGI:3487246 RGD:1561898 618306 HGNC:28130 "ENST00000323249.8|NM_030567.5" @@ -26896,8 +26899,8 @@ HGNC:54637 PRR23D3P proline rich 23 domain containing 3, pseudogene pseudogene p HGNC:32481 PRR23E PRR23 family member E protein-coding gene gene with protein product Approved 3q21.3 03q21.3 FLJ40141 C3orf56 chromosome 3 open reading frame 56 2006-02-01 2022-09-15 2022-09-15 2023-03-15 285311 ENSG00000214324 OTTHUMG00000159593 uc062nlo.1 AK097460 NM_001007534 Q8N813 14702039 HGNC:32481 "ENST00000624688.2|NM_001007534.2" HGNC:56316 PRR23E2P PRR23 family member E2, pseudogene pseudogene pseudogene Approved 3q21.3 03q21.3 2022-09-15 2023-02-22 101060159 ENSG00000243016 HGNC:37230 PRR25 proline rich 25 other unknown Approved 16p13.3 16p13.3 gs64 2009-09-11 2023-03-15 388199 OTTHUMG00000178117 uc010uut.2 BC156145 NM_001013638 Q96S07 11157797 HGNC:37230 -HGNC:33193 PRR27 proline rich 27 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 C4orf40 chromosome 4 open reading frame 40 2007-08-15 2014-02-19 2014-02-19 2023-01-20 401137 ENSG00000187533 OTTHUMG00000129402 BX640924 NM_214711 CCDS3535 Q6MZM9 MGI:1921029 RGD:1310384 HGNC:33193 "ENST00000344526.10|NM_214711.4" -HGNC:25673 PRR29 proline rich 29 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "FLJ11724|DKFZp761M2312" C17orf72 chromosome 17 open reading frame 72 2006-01-04 2014-04-11 2014-04-11 2023-01-20 92340 ENSG00000224383 OTTHUMG00000178594 AL161972 NM_001191029 "CCDS54157|CCDS58586|CCDS54159|CCDS54158" P0C7W0 12477932 MGI:1922823 RGD:1307288 HGNC:25673 "ENST00000412177.6|NM_001164257.2" +HGNC:33193 PRR27 proline rich 27 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 C4orf40 chromosome 4 open reading frame 40 Secretory calcium-binding phosphoprotein family 2245 2007-08-15 2014-02-19 2014-02-19 2023-01-20 401137 ENSG00000187533 OTTHUMG00000129402 BX640924 NM_214711 CCDS3535 Q6MZM9 MGI:1921029 RGD:1310384 HGNC:33193 "ENST00000344526.10|NM_214711.4" +HGNC:25673 PRR29 proline rich 29 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "FLJ11724|DKFZp761M2312" C17orf72 chromosome 17 open reading frame 72 2006-01-04 2014-04-11 2014-04-11 2023-01-20 92340 ENSG00000224383 OTTHUMG00000178594 AL161972 NM_001191029 "CCDS54158|CCDS54159|CCDS54157|CCDS58586" P0C7W0 12477932 MGI:1922823 RGD:1307288 HGNC:25673 "ENST00000412177.6|NM_001164257.2" HGNC:51822 PRR29-AS1 PRR29 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q23.3 17q23.3 Antisense RNAs 1987 2015-06-19 2015-06-19 400612 ENSG00000264954 OTTHUMG00000178593 AK094767 NR_126169 PRR29-AS1 HGNC:51822 HGNC:28677 PRR30 proline rich 30 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 MGC44505 C2orf53 chromosome 2 open reading frame 53 2006-11-03 2014-04-11 2014-04-11 2023-01-20 339779 ENSG00000186143 OTTHUMG00000128408 BC045671 NM_178553 CCDS1739 Q53SZ7 12477932 MGI:1923877 RGD:2315526 HGNC:28677 "ENST00000335524.7|NM_178553.4" HGNC:34498 PRR32 proline rich 32 protein-coding gene gene with protein product Approved Xq25 Xq25 CXorf64 chromosome X open reading frame 64 2008-08-06 2014-04-11 2014-04-11 2023-01-20 100130613 ENSG00000183631 OTTHUMG00000022355 NM_001122716 CCDS48163 B1ATL7 21375368 MGI:1916050 RGD:1583341 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf64 HGNC:34498 "ENST00000371125.4|NM_001122716.2" @@ -26909,19 +26912,19 @@ HGNC:26172 PRR36 proline rich 36 protein-coding gene gene with protein product A HGNC:28164 PRRC1 proline rich coiled-coil 1 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 FLJ32875 proline-rich coiled-coil 1 2006-08-18 2016-01-25 2023-01-20 133619 ENSG00000164244 OTTHUMG00000128982 uc003kuk.5 AJ515429 NM_130809 "CCDS4143|CCDS68943" Q96M27 15541471 MGI:1916106 RGD:1565632 HGNC:28164 "ENST00000296666.13|NM_130809.5" HGNC:13918 PRRC2A proline rich coiled-coil 2A protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G2|D6S51E" BAT2 "HLA-B associated transcript 2|proline-rich coiled-coil 2A" "MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1691|1835" 2001-07-13 2010-12-09 2016-01-25 2023-01-20 7916 ENSG00000204469 OTTHUMG00000031168 uc003nvb.5 M31293 NM_080686 CCDS4708 P48634 "2156268|8499947" MGI:1915467 RGD:1303025 142580 HGNC:13918 "ENST00000376033.3|NM_004638.4" HGNC:28121 PRRC2B proline rich coiled-coil 2B protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "MGC10526|LQFBS-1" "KIAA0515|BAT2L|BAT2L1" "KIAA0515|HLA-B associated transcript 2-like|HLA-B associated transcript 2-like 1|proline-rich coiled-coil 2B" Small nucleolar RNA protein coding host genes 1835 2004-01-27 2010-12-09 2016-01-25 2023-01-20 84726 ENSG00000288701 OTTHUMG00000020827 uc004cam.2 AB011087 NM_001384818 CCDS48044 Q5JSZ5 9628581 MGI:1923304 RGD:1595906 619544 HGNC:28121 "ENST00000683519.1|NM_013318.4" -HGNC:24903 PRRC2C proline rich coiled-coil 2C protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "KIAA1096|XTP2" "BAT2D1|BAT2L2" "BAT2 domain containing 1|HLA-B associated transcript 2-like 2|proline-rich coiled-coil 2C" 2005-02-09 2010-12-09 2016-01-25 2023-01-20 23215 ENSG00000117523 OTTHUMG00000034665 uc010pmg.3 AL096857 NM_015172 "CCDS1296|CCDS91104" Q9Y520 "10470851|12443540" MGI:1913754 RGD:1566064 617373 HGNC:24903 "ENST00000647382.2|NM_001387844.1" +HGNC:24903 PRRC2C proline rich coiled-coil 2C protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "KIAA1096|XTP2" "BAT2D1|BAT2L2" "BAT2 domain containing 1|HLA-B associated transcript 2-like 2|proline-rich coiled-coil 2C" 2005-02-09 2010-12-09 2016-01-25 2023-01-20 23215 ENSG00000117523 OTTHUMG00000034665 uc010pmg.3 AL096857 NM_015172 "CCDS91104|CCDS1296" Q9Y520 "10470851|12443540" MGI:1913754 RGD:1566064 617373 HGNC:24903 "ENST00000647382.2|NM_001387844.1" HGNC:23949 PRRC2CP1 proline rich coiled-coil 2C pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 BAT2D1P1 "HBxAg transactivated protein 2 pseudogene|BAT2 domain containing 1 pseudogene 1" BAT2L2P1 "HLA-B associated transcript 2-like 2 pseudogene 1|proline-rich coiled-coil 2C pseudogene 1" 2009-12-17 2010-12-09 2016-01-25 2016-01-25 360018 ENSG00000216777 OTTHUMG00000036160 NG_002936 12815422 PGOHUM00000233665 HGNC:23949 HGNC:9469 PRRG1 proline rich and Gla domain 1 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 PRGP1 proline-rich Gla (G-carboxyglutamic acid) polypeptide 1 Proline rich and Gla domain containing 1249 1997-10-16 2016-04-27 2023-01-20 5638 ENSG00000130962 OTTHUMG00000021360 uc004ddo.3 AF009242 NM_000950 "CCDS55397|CCDS14239" O14668 9256434 MGI:1917364 RGD:1561320 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRRG1 300935 HGNC:9469 "ENST00000378628.9|NM_001142395.2" HGNC:9470 PRRG2 proline rich and Gla domain 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PRGP2 proline-rich Gla (G-carboxyglutamic acid) polypeptide 2 Proline rich and Gla domain containing 1249 1997-10-16 2016-04-27 2023-01-20 5639 ENSG00000126460 OTTHUMG00000183153 uc002pon.4 NM_000951 CCDS12773 O14669 9256434 MGI:1929596 RGD:1305444 604429 HGNC:9470 "ENST00000246794.10|NM_000951.3" HGNC:30798 PRRG3 proline rich and Gla domain 3 protein-coding gene gene with protein product Approved Xq28 Xq28 TMG3 proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) Proline rich and Gla domain containing 1249 2004-09-01 2016-04-27 2023-01-20 79057 ENSG00000130032 OTTHUMG00000024170 uc004few.3 AK074574 NM_024082 "CCDS94688|CCDS14699" Q9BZD7 11171957 MGI:2685214 RGD:1560309 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRRG3 300685 HGNC:30798 "ENST00000674457.1|NM_001372163.1" HGNC:30799 PRRG4 proline rich and Gla domain 4 protein-coding gene gene with protein product Approved 11p13 11p13 TMG4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) Proline rich and Gla domain containing 1249 2004-09-01 2016-04-27 2023-01-20 79056 ENSG00000135378 OTTHUMG00000166219 uc001mtx.4 AF326351 NM_024081 CCDS7881 Q9BZD6 11171957 MGI:2442211 RGD:1560542 611690 HGNC:30799 "ENST00000257836.4|NM_024081.6" -HGNC:13943 PRRT1 proline rich transmembrane protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "NG5|IFITMD7|DSPD1" "interferon induced transmembrane protein domain containing 7|dispanin subfamily D member 1" C6orf31 "chromosome 6 open reading frame 31|proline-rich transmembrane protein 1" interferon induced transmembrane protein domain containing 1600 2000-12-05 2005-07-24 2016-01-27 2023-03-15 80863 ENSG00000204314 OTTHUMG00000031144 uc003nzt.4 AK054885 NM_030651 CCDS4739 Q99946 MGI:1932118 RGD:1359348 618297 HGNC:13943 "ENST00000211413.10|NM_030651.4" -HGNC:53642 PRRT1B proline rich transmembrane protein 1B protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "IFITMD8|DSPD2" dispanin subfamily D member 2 interferon induced transmembrane protein domain containing 1600 2017-08-10 2023-01-20 642515 ENSG00000283526 OTTHUMG00000191656 NM_001365666 CCDS94520 A0A1B0GWB2 MGI:3649917 RGD:7582623 HGNC:53642 "ENST00000636672.2|NM_001395643.1" -HGNC:30500 PRRT2 proline rich transmembrane protein 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ25513|DKFZp547J199|IFITMD1|FICCA|DSPB3|PKC|EKD1" "interferon induced transmembrane protein domain containing 1|dispanin subfamily B member 3|Episodic kinesigenic dyskinesia 1" "ICCA|DYT10" "infantile convulsions and paroxysmal choreoathetosis|dystonia 10|proline-rich transmembrane protein 2" interferon induced transmembrane protein domain containing 1600 2005-11-25 2016-01-27 2023-06-06 112476 ENSG00000167371 OTTHUMG00000177142 uc002due.4 BC011405 NM_145239 "CCDS10654|CCDS58446|CCDS58445" Q7Z6L0 "22101681|22243967|29346777" MGI:1916267 RGD:1564195 614386 291703 HGNC:30500 "ENST00000358758.12|NM_145239.3" HGNC:30500 +HGNC:13943 PRRT1 proline rich transmembrane protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "NG5|IFITMD7|DSPD1" "interferon induced transmembrane protein domain containing 7|dispanin subfamily D member 1" C6orf31 "chromosome 6 open reading frame 31|proline-rich transmembrane protein 1" Dispanins 1600 2000-12-05 2005-07-24 2016-01-27 2023-03-15 80863 ENSG00000204314 OTTHUMG00000031144 uc003nzt.4 AK054885 NM_030651 CCDS4739 Q99946 MGI:1932118 RGD:1359348 618297 HGNC:13943 "ENST00000211413.10|NM_030651.4" +HGNC:53642 PRRT1B proline rich transmembrane protein 1B protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "IFITMD8|DSPD2" dispanin subfamily D member 2 Dispanins 1600 2017-08-10 2023-01-20 642515 ENSG00000283526 OTTHUMG00000191656 NM_001365666 CCDS94520 A0A1B0GWB2 MGI:3649917 RGD:7582623 HGNC:53642 "ENST00000636672.2|NM_001395643.1" +HGNC:30500 PRRT2 proline rich transmembrane protein 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ25513|DKFZp547J199|IFITMD1|FICCA|DSPB3|PKC|EKD1" "interferon induced transmembrane protein domain containing 1|dispanin subfamily B member 3|Episodic kinesigenic dyskinesia 1|Paroxysmal kinesigenic dyskinesia" "ICCA|DYT10" "infantile convulsions and paroxysmal choreoathetosis|dystonia 10|proline-rich transmembrane protein 2" Dispanins 1600 2005-11-25 2016-01-27 2023-06-07 112476 ENSG00000167371 OTTHUMG00000177142 uc002due.4 BC011405 NM_145239 "CCDS10654|CCDS58445|CCDS58446" Q7Z6L0 "22101681|22243967|29346777" MGI:1916267 RGD:1564195 614386 291703 HGNC:30500 "ENST00000358758.12|NM_145239.3" HGNC:30500 HGNC:26591 PRRT3 proline rich transmembrane protein 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 FLJ33674 proline-rich transmembrane protein 3 2005-12-19 2016-01-27 2023-01-20 285368 ENSG00000163704 OTTHUMG00000155285 uc003bul.2 AK090993 NM_207351 "CCDS43049|CCDS82732" Q5FWE3 MGI:2444810 RGD:1562419 619993 HGNC:26591 "ENST00000412055.6|NM_207351.5" HGNC:41151 PRRT3-AS1 PRRT3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 PRRT3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-07-23 100874032 ENSG00000230082 OTTHUMG00000155293 uc031ryi.1 NR_046734 32086850 619106 PRRT3-AS1 HGNC:41151 -HGNC:37280 PRRT4 proline rich transmembrane protein 4 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 proline-rich transmembrane protein 4 2009-09-22 2016-01-27 2023-01-20 401399 ENSG00000224940 OTTHUMG00000157714 uc022aky.2 BC063892 NM_001114726 "CCDS47698|CCDS55160" C9JH25 MGI:2141677 RGD:1559885 HGNC:37280 -HGNC:9142 PRRX1 paired related homeobox 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 PHOX1 PMX1 paired mesoderm homeo box 1 PRD class homeoboxes and pseudogenes 521 1994-03-21 2003-11-14 2003-11-12 2023-01-20 5396 ENSG00000116132 OTTHUMG00000035231 uc001ghf.4 M95929 NM_006902 "CCDS1290|CCDS1291" P54821 1509260 MGI:97712 RGD:628884 PRRX1 167420 8549 270071 HGNC:9142 "ENST00000239461.11|NM_022716.4" HGNC:9142 +HGNC:37280 PRRT4 proline rich transmembrane protein 4 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 proline-rich transmembrane protein 4 2009-09-22 2016-01-27 2023-01-20 401399 ENSG00000224940 OTTHUMG00000157714 uc022aky.2 BC063892 NM_001114726 "CCDS55160|CCDS47698" C9JH25 MGI:2141677 RGD:1559885 HGNC:37280 +HGNC:9142 PRRX1 paired related homeobox 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 PHOX1 PMX1 paired mesoderm homeo box 1 PRD class homeoboxes and pseudogenes 521 1994-03-21 2003-11-14 2003-11-12 2023-01-20 5396 ENSG00000116132 OTTHUMG00000035231 uc001ghf.4 M95929 NM_006902 "CCDS1291|CCDS1290" P54821 1509260 MGI:97712 RGD:628884 PRRX1 167420 8549 270071 HGNC:9142 "ENST00000239461.11|NM_022716.4" HGNC:9142 HGNC:21338 PRRX2 paired related homeobox 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "PRX2|PMX2" PRD class homeoboxes and pseudogenes 521 2003-11-13 2023-01-20 51450 ENSG00000167157 OTTHUMG00000020790 uc004byh.4 AF061970 NM_016307 CCDS6926 Q99811 11063257 MGI:98218 RGD:1311471 604675 8506 470914 HGNC:21338 "ENST00000372469.6|NM_016307.4" HGNC:50684 PRRX2-AS1 PRRX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Antisense RNAs 1987 2014-06-05 2014-06-05 101929437 ENSG00000236024 OTTHUMG00000020789 NR_132102 PRRX2-AS1 HGNC:50684 HGNC:9475 PRSS1 serine protease 1 protein-coding gene gene with protein product Approved 7q34 07q34 TRY1 "trypsin 1|protease, serine 1" Serine proteases 738 2001-06-22 2018-01-19 2023-01-20 5644 ENSG00000204983 OTTHUMG00000158923 uc003wak.3 M22612 NM_002769 CCDS5872 P07477 "MGI:98839|MGI:102756|MGI:102757|MGI:102758|MGI:3641889|MGI:3646222|MGI:3687012" RGD:3417 LRG_1013|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1013.xml 276000 118080 S01.127 objectId:2397 3.4.21.4 HGNC:9475 "ENST00000311737.12|NM_002769.5" HGNC:9475 @@ -26934,21 +26937,21 @@ HGNC:43789 PRSS3P4 PRSS3 pseudogene 4 pseudogene pseudogene Approved 9p13.3 09p1 HGNC:9491 PRSS8 serine protease 8 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 CAP1 "prostasin|channel-activating serine protease 1" protease, serine 8 Serine proteases 738 1995-10-17 2018-01-19 2023-01-20 5652 ENSG00000052344 OTTHUMG00000176750 uc002ebc.5 U33446 NM_002773 CCDS45469 Q16651 "8838796|7768952" MGI:1923810 RGD:619973 600823 S01.159 objectId:2400 HGNC:9491 "ENST00000317508.11|NM_002773.5" HGNC:9477 PRSS12 serine protease 12 protein-coding gene gene with protein product Approved 4q26 04q26 "BSSP-3|MRT1" "neurotrypsin|motopsin|brain-specific serine protease 3|mental retardation, autosomal recessive 1" protease, serine 12 "Serine proteases|Scavenger receptor cysteine rich domain containing" "738|1404" 1998-10-02 2018-01-19 2023-01-20 8492 ENSG00000164099 OTTHUMG00000161166 uc003ica.3 AJ001531 NM_003619 CCDS3709 P56730 "9540828|9245503" MGI:1100881 RGD:69238 606709 118083 S01.237 HGNC:9477 "ENST00000296498.3|NM_003619.4" HGNC:9477 HGNC:9480 PRSS16 serine protease 16 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 TSSP thymus-specific serine protease protease, serine 16 Serine proteases 738 1999-12-10 2018-01-19 2023-01-20 10279 ENSG00000112812 OTTHUMG00000016167 uc003nja.4 AF052514 NM_005865 CCDS4623 Q9NQE7 10527559 MGI:1859181 RGD:1306652 607169 S28.003 HGNC:9480 "ENST00000230582.8|NM_005865.4" -HGNC:9485 PRSS21 serine protease 21 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ESP-1|TEST1" testisin protease, serine 21 Serine proteases 738 1999-12-17 2018-01-19 2023-01-20 10942 ENSG00000007038 OTTHUMG00000128931 uc002crt.5 AF058300 NM_006799 "CCDS10478|CCDS45388" Q9Y6M0 "10397266|9826525" MGI:1916698 RGD:727870 608159 S01.011 HGNC:9485 "ENST00000005995.8|NM_006799.4" +HGNC:9485 PRSS21 serine protease 21 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ESP-1|TEST1" testisin protease, serine 21 Serine proteases 738 1999-12-17 2018-01-19 2023-01-20 10942 ENSG00000007038 OTTHUMG00000128931 uc002crt.5 AF058300 NM_006799 "CCDS45388|CCDS10478" Q9Y6M0 "10397266|9826525" MGI:1916698 RGD:727870 608159 S01.011 HGNC:9485 "ENST00000005995.8|NM_006799.4" HGNC:14368 PRSS22 serine protease 22 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "hBSSP-4|BSSP-4|SP001LA" brain-specific serine protease 4 protease, serine 22 Serine proteases 738 2001-09-26 2018-01-19 2023-01-20 64063 ENSG00000005001 OTTHUMG00000128961 uc002cry.1 AF321182 NM_022119 CCDS10481 Q9GZN4 "11602603|15701722" MGI:1918085 RGD:1310880 609343 S01.252 HGNC:14368 "ENST00000161006.8|NM_022119.4" HGNC:14370 PRSS23 serine protease 23 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "SPUVE|SIG13" protease, serine 23 Serine proteases 738 2004-07-09 2018-01-19 2023-01-20 11098 ENSG00000150687 OTTHUMG00000167226 uc001pcb.4 AF015287 NM_007173 CCDS8278 O95084 MGI:1923703 RGD:1359545 618376 S01.309 HGNC:14370 "ENST00000280258.6|NM_007173.6" -HGNC:56071 PRSS23-AS1 PRSS23 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 Antisense RNAs 1987 2021-12-13 2021-12-13 123706520 ENSG00000255471 +HGNC:56071 PRSS23-AS1 PRSS23 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 Antisense RNAs 1987 2021-12-13 2021-12-13 107984429 ENSG00000255471 XR_001748532 HGNC:15475 PRSS27 serine protease 27 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MPN|CAPH2" "pancreasin|marapsin" protease, serine 27 Serine proteases 738 2001-05-10 2018-01-19 2023-01-20 83886 ENSG00000172382 OTTHUMG00000128929 uc002crf.4 AB056161 NM_031948 CCDS10476 Q9BQR3 MGI:2450123 RGD:1303256 608018 S01.074 HGNC:15475 "ENST00000302641.8|NM_031948.5" HGNC:17542 PRSS29P serine protease 29, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 Isp2 protease, serine 29, pseudogene Serine proteases 738 2004-07-09 2018-01-12 2018-01-12 123787 ENSG00000196364 OTTHUMG00000172997 AF529082 NG_002329 A6NIE9 MGI:2149952 RGD:1305856 PGOHUM00000293388 HGNC:17542 HGNC:28753 PRSS30P serine protease 30, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 "Disp|MGC5228" "TMPRSS8|TMPRSS8P" "transmembrane protease, serine 8 homolog (mouse), pseudogene|protease, serine, 30 homolog (mouse), pseudogene" Serine proteases 738 2009-06-05 2010-04-21 2018-01-12 2021-10-07 124221 ENSG00000172460 OTTHUMG00000128963 NR_026864 12477932 MGI:1353645 S01.969 HGNC:28753 HGNC:30405 PRSS33 serine protease 33 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 EOS protease, serine 33 Serine proteases 738 2004-07-09 2018-01-19 2023-01-20 260429 ENSG00000103355 OTTHUMG00000177360 uc032don.1 AF536382 NM_152891 CCDS42110 Q8NF86 12795636 MGI:2661234 RGD:1583742 613797 S01.075 HGNC:30405 "ENST00000682474.1|NM_152891.3" HGNC:21387 PRSS35 serine protease 35 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 "MGC46520|dJ223E3.1" C6orf158 "chromosome 6 open reading frame 158|protease, serine 35" Serine proteases 738 2003-06-11 2004-07-09 2018-01-19 2023-01-20 167681 ENSG00000146250 OTTHUMG00000015113 uc003pjz.4 BC037170 NM_153362 CCDS4999 Q8N3Z0 MGI:2444800 RGD:1311282 S01.994 HGNC:21387 "ENST00000369700.4|NM_153362.3" -HGNC:26906 PRSS36 serine protease 36 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ90661 polyserase 2 "protease, serine, 36|protease, serine 36" Serine proteases 738 2005-03-01 2018-01-19 2023-01-20 146547 ENSG00000178226 OTTHUMG00000176751 uc002ebd.5 AK075142 NM_173502 "CCDS58453|CCDS58452|CCDS32436" Q5K4E3 15536082 MGI:1924863 RGD:1593186 610560 XS01-002 HGNC:26906 "ENST00000268281.9|NM_173502.5" +HGNC:26906 PRSS36 serine protease 36 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ90661 polyserase 2 "protease, serine, 36|protease, serine 36" Serine proteases 738 2005-03-01 2018-01-19 2023-01-20 146547 ENSG00000178226 OTTHUMG00000176751 uc002ebd.5 AK075142 NM_173502 "CCDS58452|CCDS58453|CCDS32436" Q5K4E3 15536082 MGI:1924863 RGD:1593186 610560 XS01-002 HGNC:26906 "ENST00000268281.9|NM_173502.5" HGNC:29211 PRSS37 serine protease 37 protein-coding gene gene with protein product Approved 7q34 07q34 protease, serine 37 Serine proteases 738 2009-09-22 2018-01-19 2023-01-20 136242 ENSG00000165076 OTTHUMG00000157174 uc064irq.1 NM_001008270 CCDS34764 A4D1T9 MGI:1914940 RGD:1311823 HGNC:29211 "ENST00000350549.8|NM_001008270.3" HGNC:29625 PRSS38 serine protease 38 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 MPN2 marapsin 2 protease, serine 38 Serine proteases 738 2009-09-22 2018-01-19 2023-01-20 339501 ENSG00000185888 OTTHUMG00000037701 uc001hrh.4 NM_183062 CCDS1563 A1L453 12838346 MGI:2685095 RGD:1565729 HGNC:29625 "ENST00000366757.4|NM_183062.3" HGNC:37319 PRSS40A serine protease 40A (pseudogene) pseudogene pseudogene Approved 2q21.1 02q21.1 TISP43 serine protease 40A 2018-01-19 2019-06-27 2020-06-15 150527 ENSG00000183292 OTTHUMG00000153992 NR_027313 MGI:1270857 HGNC:37319 HGNC:27164 PRSS40B serine protease 40B (pseudogene) pseudogene pseudogene Approved 2q21.1 02q21.1 serine protease 40B 2018-01-19 2019-06-27 2019-06-27 646743 ENSG00000184761 OTTHUMG00000153982 NR_033930 MGI:1270857 RGD:1309276 HGNC:27164 -HGNC:30715 PRSS41 serine protease 41 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 TESSP1 testis serine protease 1 protease, serine 41 Serine proteases 738 2010-04-08 2018-01-19 2023-03-15 360226 ENSG00000215148 OTTHUMG00000128932 NM_183379 "CCDS92091|CCDS92090" Q7RTY9 12838346 MGI:1918253 RGD:1584711 S01.327 HGNC:30715 "ENST00000399677.5|NM_001395501.1" +HGNC:30715 PRSS41 serine protease 41 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 TESSP1 testis serine protease 1 protease, serine 41 Serine proteases 738 2010-04-08 2018-01-19 2023-03-15 360226 ENSG00000215148 OTTHUMG00000128932 NM_183379 "CCDS92090|CCDS92091" Q7RTY9 12838346 MGI:1918253 RGD:1584711 S01.327 HGNC:30715 "ENST00000399677.5|NM_001395501.1" HGNC:30716 PRSS42P serine protease 42, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 TESSP2 testis serine protease 2 PRSS42 "protease, serine 42|serine protease 42" Serine proteases 738 2009-11-06 2019-01-31 2019-01-31 2023-03-15 339906 ENSG00000178055 OTTHUMG00000156496 uc011bap.2 NR_148409 Q7Z5A4 12838346 MGI:2665280 RGD:1562548 HGNC:30716 HGNC:37323 PRSS43P serine protease 43, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 TESSP3 PRSS43 "protease, serine 43|serine protease 43" Serine proteases 738 2010-02-23 2019-01-31 2019-01-31 2019-12-17 100288960 ENSG00000286651 NR_160552 MGI:2684822 S01.487 HGNC:37323 HGNC:37324 PRSS44P serine protease 44, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 TESSP4 PRSS44 "protease, serine 44|serine protease 44" Serine proteases 738 2010-02-23 2019-01-31 2019-01-31 2020-06-15 729756 ENSG00000226074 OTTHUMG00000154622 NR_160551 MGI:1920586 RGD:1560940 S01.934 HGNC:37324 @@ -26960,23 +26963,23 @@ HGNC:17910 PRSS50 serine protease 50 protein-coding gene gene with protein produ HGNC:37321 PRSS51 serine protease 51 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 protease, serine 51 2012-08-24 2018-01-19 2018-01-19 346702 ENSG00000253649 OTTHUMG00000163805 uc010lru.3 XM_047422509 A0A1B0GVH4 MGI:1921465 RGD:6498506 HGNC:37322 PRSS52P serine protease 52, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 protease, serine 52, pseudogene 2012-08-24 2018-01-19 2020-04-06 100419209 ENSG00000285237 NG_025997 MGI:1920632 RGD:1586868 PGOHUM00000249227 HGNC:37322 HGNC:34407 PRSS53 serine protease 53 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 POL3S polyserase 3 protease, serine 53 Serine proteases 738 2010-04-13 2018-01-19 2023-01-20 339105 ENSG00000151006 OTTHUMG00000047358 uc002eaq.4 NM_001081268 CCDS42153 Q2L4Q9 16566820 MGI:2652890 RGD:1566127 610561 HGNC:34407 "ENST00000280606.7|NM_001039503.3" -HGNC:26336 PRSS54 serine protease 54 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ25339|KLKBL4|CT67" cancer/testis antigen 67 protease, serine 54 Serine proteases 738 2010-04-14 2018-01-19 2023-01-20 221191 ENSG00000103023 OTTHUMG00000173231 uc002enf.3 AK058068 NM_001080492 "CCDS32463|CCDS76882" Q6PEW0 17521433 MGI:1918243 RGD:1307877 HGNC:26336 "ENST00000567164.6|NM_001305173.2" +HGNC:26336 PRSS54 serine protease 54 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ25339|KLKBL4|CT67" cancer/testis antigen 67 protease, serine 54 Serine proteases 738 2010-04-14 2018-01-19 2023-01-20 221191 ENSG00000103023 OTTHUMG00000173231 uc002enf.3 AK058068 NM_001080492 "CCDS76882|CCDS32463" Q6PEW0 17521433 MGI:1918243 RGD:1307877 HGNC:26336 "ENST00000567164.6|NM_001305173.2" HGNC:30824 PRSS55 serine protease 55 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "T-SP1|UNQ9391|CT153" protease, serine 55 Serine proteases 738 2010-04-14 2018-01-19 2023-01-20 203074 ENSG00000184647 OTTHUMG00000129345 uc003wta.4 AY358867 NM_198464 "CCDS56523|CCDS5976" Q6UWB4 "12975309|18844450" MGI:1918287 RGD:1586875 615144 HGNC:30824 "ENST00000328655.8|NM_198464.4" HGNC:39433 PRSS56 serine protease 56 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 protease, serine 56 Serine proteases 738 2011-03-15 2018-01-19 2023-01-20 646960 ENSG00000237412 OTTHUMG00000153326 uc021vyh.2 NM_001195129 CCDS74669 P0CW18 "21397065|21532570" MGI:1916703 RGD:1563955 613858 265147 S01.514 HGNC:39433 "ENST00000617714.2|NM_001195129.2" HGNC:39433 HGNC:31397 PRSS57 serine protease 57 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 UNQ782 PRSSL1 "protease, serine-like 1|protease, serine 57" "Serine proteases|Granule associated serine proteases of immune defence" "738|1636" 2004-06-16 2011-03-07 2018-01-19 2023-01-20 400668 ENSG00000185198 OTTHUMG00000180662 uc002lpl.2 AY358594 NM_214710 "CCDS77203|CCDS12041" Q6UWY2 12975309 MGI:1920356 RGD:1303330 S01.319 HGNC:31397 "ENST00000329267.9|NM_001308209.2" HGNC:39125 PRSS58 serine protease 58 protein-coding gene gene with protein product Approved 7q34 07q34 TRYX3 trypsin X3 protease, serine 58 Serine proteases 738 2011-03-10 2018-01-19 2023-01-20 136541 ENSG00000258223 OTTHUMG00000158565 uc003vxc.5 NM_001001317 CCDS5871 Q8IYP2 MGI:3608323 RGD:1303054 3.4.21.4 HGNC:39125 "ENST00000547058.6|NM_001001317.5" HGNC:43791 PRSS59P serine protease 59, pseudogene pseudogene pseudogene Approved 7q34 07q34 "TRY2P|Tryx5" 2021-04-08 2021-04-08 207147 ENSG00000186163 OTTHUMG00000154634 NR_036483 MGI:1920731 PGOHUM00000302454 -HGNC:23333 PRTFDC1 phosphoribosyl transferase domain containing 1 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 HHGP 2003-11-10 2023-01-20 56952 ENSG00000099256 OTTHUMG00000017829 uc001ise.3 AF226056 NM_020200 "CCDS60506|CCDS7145" Q9NRG1 RGD:1310177 610751 HGNC:23333 "ENST00000320152.11|NM_020200.7" +HGNC:23333 PRTFDC1 phosphoribosyl transferase domain containing 1 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 HHGP 2003-11-10 2023-01-20 56952 ENSG00000099256 OTTHUMG00000017829 uc001ise.3 AF226056 NM_020200 "CCDS7145|CCDS60506" Q9NRG1 RGD:1310177 610751 HGNC:23333 "ENST00000320152.11|NM_020200.7" HGNC:26373 PRTG protogenin protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "FLJ25756|IGDCC5" immunoglobulin superfamily, DCC subclass, member 5 protogenin homolog (Gallus gallus) "Fibronectin type III domain containing|I-set domain containing" "555|593" 2005-11-11 2010-06-24 2023-01-20 283659 ENSG00000166450 OTTHUMG00000172591 uc002adg.4 AK098622 NM_173814 CCDS42040 Q2VWP7 MGI:2444710 RGD:1307157 613261 HGNC:26373 "ENST00000389286.9|NM_173814.6" HGNC:9495 PRTN3 proteinase 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PR-3|ACPA|C-ANCA|AGP7|MBT|P29" "myeloblastin|serine proteinase, neutrophil|Wegener granulomatosis autoantigen" Granule associated serine proteases of immune defence 1636 1992-08-24 2008-07-31 2023-01-20 5657 ENSG00000196415 OTTHUMG00000181838 uc002lqa.2 NM_002777 CCDS32860 P24158 2258701 MGI:893580 RGD:1304898 177020 118087 S01.134 objectId:2401 HGNC:9495 "ENST00000234347.10|NM_002777.4" HGNC:13420 PRUNE1 prune exopolyphosphatase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "DRES-17|HTCD37|H-PRUNE" PRUNE prune homolog (Drosophila) 2004-11-16 2016-06-06 2017-02-10 2023-06-06 58497 ENSG00000143363 OTTHUMG00000035062 uc001ewh.2 U67085 NM_021222 "CCDS76211|CCDS977" Q86TP1 "10602478|11687967|18700747" MGI:1925152 RGD:1359521 617413 3.6.1.11 HGNC:13420 "ENST00000271620.8|NM_021222.3" HGNC:13420 HGNC:39723 PRUNE1P1 PRUNE1 pseudogene 1 pseudogene pseudogene Approved 13q12.13 13q12.13 PRUNEP1 "prune homolog (Drosophila) pseudogene 1|prune exopolyphosphatase pseudogene 1" 2011-03-24 2023-06-06 2023-06-06 2023-06-06 100129595 ENSG00000234706 OTTHUMG00000016615 NG_011454 PGOHUM00000248340 HGNC:39723 HGNC:25209 PRUNE2 prune homolog 2 with BCH domain protein-coding gene gene with protein product Approved 9q21.2 09q21.2 "BMCC1|BNIPXL|A214N16.3|bA214N16.3" olfaxin "C9orf65|KIAA0367" "chromosome 9 open reading frame 65|KIAA0367|prune homolog 2 (Drosophila)|prune homolog 2" BCH domain containing 1299 2004-01-06 2006-11-24 2018-11-15 2023-03-15 158471 ENSG00000106772 OTTHUMG00000020047 uc010mpk.4 BC019095 NM_138818 "CCDS83375|CCDS47982|CCDS78407" Q8WUY3 "16288218|24040105" MGI:1925004 RGD:1311350 610691 HGNC:25209 "ENST00000376718.8|NM_015225.3" -HGNC:13797 PRX periaxin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 KIAA1620 PDZ domain containing 1220 2001-02-15 2023-01-20 57716 ENSG00000105227 OTTHUMG00000182597 uc002ons.4 AB046840 NM_020956 "CCDS92620|CCDS33028|CCDS12556" Q9BXM0 "10839370|9143514" MGI:108176 RGD:619960 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_265|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_265.xml" 605725 118092 HGNC:13797 "ENST00000324001.8|NM_181882.3" HGNC:13797 +HGNC:13797 PRX periaxin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 KIAA1620 PDZ domain containing 1220 2001-02-15 2023-01-20 57716 ENSG00000105227 OTTHUMG00000182597 uc002ons.4 AB046840 NM_020956 "CCDS12556|CCDS33028|CCDS92620" Q9BXM0 "10839370|9143514" MGI:108176 RGD:619960 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_265|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_265.xml" 605725 118092 HGNC:13797 "ENST00000324001.8|NM_181882.3" HGNC:13797 HGNC:28651 PRXL2A peroxiredoxin like 2A protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "MGC4248|PAMM|Adrx" "peroxiredoxin-like 2 activated in M-CSF stimulated monocytes|Adiporedoxin" "C10orf58|FAM213A" "chromosome 10 open reading frame 58|family with sequence similarity 213, member A" 2004-05-27 2018-07-19 2018-07-19 2023-01-20 84293 ENSG00000122378 OTTHUMG00000018614 uc001kcc.5 AF086462 NM_001243778 "CCDS7368|CCDS58089" Q9BRX8 "19951071|26438880|26629401|27941911" MGI:1917814 RGD:1309676 617165 HGNC:28651 "ENST00000606162.6|NM_032333.5" HGNC:52407 PRXL2AP1 peroxiredoxin like 2A pseudogene 1 pseudogene pseudogene Approved 12q21.2 12q21.2 FAM213AP1 family with sequence similarity 213 member A pseudogene 1 2016-11-01 2018-07-23 2018-07-23 2018-07-23 100420900 ENSG00000257220 OTTHUMG00000170003 NG_024032 PGOHUM00000291409 HGNC:52407 HGNC:52408 PRXL2AP2 peroxiredoxin like 2A pseudogene 2 pseudogene pseudogene Approved 8q21.11 08q21.11 FAM213AP2 family with sequence similarity 213 member A pseudogene 2 2016-11-01 2018-07-23 2018-07-23 2018-07-23 100131252 ENSG00000254213 OTTHUMG00000164917 NG_022394 PGOHUM00000303253 HGNC:52408 -HGNC:28390 PRXL2B peroxiredoxin like 2B protein-coding gene gene with protein product Approved 1p36.32 01p36.32 MGC26818 "prostamide/prostaglandin F synthase|thioredoxin-type PGF synthase" "C1orf93|FAM213B" "chromosome 1 open reading frame 93|family with sequence similarity 213, member B" 2005-05-31 2018-07-19 2018-07-19 2023-01-20 127281 ENSG00000157870 OTTHUMG00000000847 uc001aju.4 AK075273 NM_152371 "CCDS90843|CCDS44|CCDS55564" Q8TBF2 "18006499|20950588" MGI:1913719 RGD:1308251 1.11.1.20 HGNC:28390 "ENST00000419916.8|NM_152371.5" +HGNC:28390 PRXL2B peroxiredoxin like 2B protein-coding gene gene with protein product Approved 1p36.32 01p36.32 MGC26818 "prostamide/prostaglandin F synthase|thioredoxin-type PGF synthase" "C1orf93|FAM213B" "chromosome 1 open reading frame 93|family with sequence similarity 213, member B" 2005-05-31 2018-07-19 2018-07-19 2023-01-20 127281 ENSG00000157870 OTTHUMG00000000847 uc001aju.4 AK075273 NM_152371 "CCDS90843|CCDS55564|CCDS44" Q8TBF2 "18006499|20950588" MGI:1913719 RGD:1308251 1.11.1.20 HGNC:28390 "ENST00000419916.8|NM_152371.5" HGNC:16881 PRXL2C peroxiredoxin like 2C protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "C9orf21|AAED1" "chromosome 9 open reading frame 21|AhpC/TSA antioxidant enzyme domain containing 1" 2002-04-29 2018-07-19 2018-07-19 2023-01-20 195827 ENSG00000158122 OTTHUMG00000020299 uc004awm.4 BK000255 NM_153698 CCDS35073 Q7RTV5 MGI:1913379 RGD:1589650 HGNC:16881 "ENST00000375234.8|NM_153698.2" HGNC:54977 PRXL2CP1 PRXL2C pseudogene 1 pseudogene pseudogene Approved Xq11.2 Xq11.2 2020-05-13 2020-05-13 650181 ENSG00000237963 NG_022606 HGNC:14024 PRY PTPN13 like Y-linked protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 "PTPN13LY|PRY1" PTPN13-like, Y-linked 2001-09-21 2018-04-30 2023-01-20 9081 ENSG00000169789 OTTHUMG00000043845 uc004fvh.1 AF000988 NM_004676 CCDS14799 O14603 9381176 400019 HGNC:14024 "ENST00000303728.5|NM_004676.2" @@ -26987,15 +26990,15 @@ HGNC:34020 PRYP3 PTPN13 like Y-linked pseudogene 3 pseudogene pseudogene Approve HGNC:34021 PRYP4 PTPN13 like Y-linked pseudogene 4 pseudogene pseudogene Approved Yq11.23 Yq11.23 PTPN13-like, Y-linked pseudogene 4 2008-03-14 2018-04-30 2018-04-30 442866 ENSG00000172283 OTTHUMG00000045269 NG_004755 O14603 HGNC:34021 HGNC:38785 PRYP5 PTPN13 like Y-linked pseudogene 5 pseudogene pseudogene Approved Yq11.222 Yq11.222 PTPN13-like, Y-linked pseudogene 5 2010-08-03 2018-04-30 2018-04-30 106478933 ENSG00000233546 OTTHUMG00000041977 NG_084006 PGOHUM00000233992 HGNC:38785 HGNC:38786 PRYP6 PTPN13 like Y-linked pseudogene 6 pseudogene pseudogene Approved Yq11.222 Yq11.222 PTPN13-like, Y-linked pseudogene 6 2010-08-03 2018-04-30 2018-04-30 106480721 ENSG00000248573 OTTHUMG00000041959 NG_084011 PGOHUM00000233780 HGNC:38786 -HGNC:9498 PSAP prosaposin protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "variant Gaucher disease and variant metachromatic leukodystrophy|saposin-A|saposin-B|saposin-C|saposin-D" "SAP1|GLBA|SAP2" "sphingolipid activator protein-1|sphingolipid activator protein-2" Receptor ligands 542 1986-01-01 2008-07-31 2023-01-20 5660 ENSG00000197746 OTTHUMG00000018429 uc001jsm.5 BC004275 NM_002778 CCDS7311 P07602 2717620 MGI:97783 RGD:3423 176801 118095 ligandId:6067 HGNC:9498 "ENST00000394936.8|NM_002778.4" HGNC:9498 +HGNC:9498 PSAP prosaposin protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "variant Gaucher disease and variant metachromatic leukodystrophy|saposin-A|saposin-B|saposin-C|saposin-D|precursor of saposins" "SAP1|GLBA|SAP2" "sphingolipid activator protein-1|sphingolipid activator protein-2" Receptor ligands 542 1986-01-01 2008-07-31 2023-06-15 5660 ENSG00000197746 OTTHUMG00000018429 uc001jsm.5 BC004275 NM_002778 CCDS7311 P07602 2717620 MGI:97783 RGD:3423 176801 118095 ligandId:6067 HGNC:9498 "ENST00000394936.8|NM_002778.4" HGNC:9498 HGNC:33131 PSAPL1 prosaposin like 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "prosaposin-like 1|prosaposin like 1 (gene/pseudogene)" 2006-09-18 2020-05-01 2023-01-20 768239 ENSG00000178597 OTTHUMG00000160006 uc011bwj.3 DQ991252 NM_001085382 CCDS47009 Q6NUJ1 20210993 MGI:1924193 RGD:1307368 HGNC:33131 "ENST00000319098.7|NM_001085382.2" -HGNC:19129 PSAT1 phosphoserine aminotransferase 1 protein-coding gene gene with protein product Approved 9q21.2 09q21.2 "PSA|PSAT" phosphoserine transaminase 2003-05-19 2023-01-20 29968 ENSG00000135069 OTTHUMG00000020066 uc004ala.5 BC004863 NM_021154 "CCDS6660|CCDS6659" Q9Y617 "12633500|3651428" MGI:2183441 RGD:735170 610936 159912 2.6.1.52 HGNC:19129 "ENST00000376588.4|NM_058179.4" HGNC:19129 +HGNC:19129 PSAT1 phosphoserine aminotransferase 1 protein-coding gene gene with protein product Approved 9q21.2 09q21.2 "PSA|PSAT" phosphoserine transaminase 2003-05-19 2023-01-20 29968 ENSG00000135069 OTTHUMG00000020066 uc004ala.5 BC004863 NM_021154 "CCDS6659|CCDS6660" Q9Y617 "12633500|3651428" MGI:2183441 RGD:735170 610936 159912 2.6.1.52 HGNC:19129 "ENST00000376588.4|NM_058179.4" HGNC:19129 HGNC:15785 PSAT1P1 phosphoserine aminotransferase 1 pseudogene 1 pseudogene pseudogene Approved 8q11.21 08q11.21 similar to phosphoserine aminotransferase isoform 1 C8orf62 chromosome 8 open reading frame 62 2005-09-22 2010-06-03 2010-06-03 2014-11-19 137133 ENSG00000253810 OTTHUMG00000164212 NG_009632 PGOHUM00000260401 HGNC:15785 HGNC:43988 PSAT1P2 phosphoserine aminotransferase 1 pseudogene 2 pseudogene pseudogene Approved 2p15 02p15 2012-05-23 2014-11-19 107133519 ENSG00000232144 OTTHUMG00000152522 NG_046678 PGOHUM00000240063 HGNC:43988 HGNC:43989 PSAT1P3 phosphoserine aminotransferase 1 pseudogene 3 pseudogene pseudogene Approved 1p31.1 01p31.1 2012-05-23 2014-11-19 729779 ENSG00000230787 OTTHUMG00000009740 NG_022726 PGOHUM00000244078 HGNC:43989 HGNC:43990 PSAT1P4 phosphoserine aminotransferase 1 pseudogene 4 pseudogene pseudogene Approved 3q26.1 03q26.1 2012-05-23 2014-11-19 100287630 ENSG00000224962 OTTHUMG00000158210 NG_022280 PGOHUM00000238254 HGNC:43990 HGNC:9500 PSCA prostate stem cell antigen protein-coding gene gene with protein product Approved 8q24.3 08q24.3 lncPSCA LY6/PLAUR domain containing 1226 1999-08-25 2023-01-20 8000 ENSG00000167653 OTTHUMG00000162077 uc003ywu.4 AF043498 NM_005672 CCDS47925 O43653 9465086 MGI:1919623 RGD:1594221 602470 HGNC:9500 "ENST00000301258.5|NM_005672.5" -HGNC:9507 PSD pleckstrin and Sec7 domain containing protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "KIAA2011|TYL|PSD1|EFA6A|EFA6" exchange factor for ARF6 A pleckstrin and Sec7 domain protein "Pleckstrin homology domain containing|Pleckstrin and Sec7 domain containing" "682|1948" 1997-08-18 2004-04-28 2023-05-23 5662 ENSG00000059915 OTTHUMG00000018954 uc009xxd.2 X99688 NM_001270965 "CCDS31272|CCDS73187" A5PKW4 9417912 MGI:1920978 RGD:620297 602327 HGNC:9507 "ENST00000020673.6|NM_002779.5" +HGNC:9507 PSD pleckstrin and Sec7 domain containing protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "KIAA2011|TYL|PSD1|EFA6A|EFA6" exchange factor for ARF6 A pleckstrin and Sec7 domain protein "Pleckstrin homology domain containing|Pleckstrin and Sec7 domain containing" "682|1948" 1997-08-18 2004-04-28 2023-05-23 5662 ENSG00000059915 OTTHUMG00000018954 uc009xxd.2 X99688 NM_001270965 "CCDS73187|CCDS31272" A5PKW4 9417912 MGI:1920978 RGD:620297 602327 HGNC:9507 "ENST00000020673.6|NM_002779.5" HGNC:19092 PSD2 pleckstrin and Sec7 domain containing 2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "DKFZp761B0514|EFA6C" "Pleckstrin homology domain containing|Pleckstrin and Sec7 domain containing" "682|1948" 2004-07-02 2023-01-20 84249 ENSG00000146005 OTTHUMG00000129240 uc003leu.2 AL136559 NM_032289 CCDS4216 Q9BQI7 MGI:1921252 RGD:1311075 HGNC:19092 "ENST00000274710.4|NM_032289.4" HGNC:52765 PSD2-AS1 PSD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 Antisense RNAs 1987 2016-12-08 2016-12-08 101929696 ENSG00000249131 OTTHUMG00000163335 NR_105052 HGNC:52765 HGNC:19093 PSD3 pleckstrin and Sec7 domain containing 3 protein-coding gene gene with protein product Approved 8p22 08p22 "KIAA0942|HCA67|EFA6R|DKFZp761K1423|EFA6D" "Pleckstrin homology domain containing|Pleckstrin and Sec7 domain containing" "682|1948" 2004-07-06 2023-01-20 23362 ENSG00000156011 OTTHUMG00000163711 uc003wyy.4 AF243495 NM_015310 "CCDS34854|CCDS43720" Q9NYI0 MGI:1918215 RGD:1559968 614440 HGNC:19093 "ENST00000327040.13|NM_015310.4" HGNC:19093 @@ -27006,58 +27009,58 @@ HGNC:30100 PSENEN presenilin enhancer, gamma-secretase subunit protein-coding ge HGNC:9514 PSG1 pregnancy specific beta-1-glycoprotein 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PSGGA|CD66f|PBG1" PSBG1 "CD molecules|V-set domain containing|Pregnancy specific glycoproteins" "471|590|1315" 1989-06-30 2023-01-20 5669 ENSG00000231924 OTTHUMG00000151123 uc002ovd.1 NM_001184825 P11464 "MGI:1347245|MGI:1347246" 176390 CD66f HGNC:9514 "ENST00000436291.7|NM_001184825.2" HGNC:9519 PSG2 pregnancy specific beta-1-glycoprotein 2 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "PSGGB|PSG1|CEA" "pregnancy-specific beta-1 glycoprotein|pregnancy-specific beta-1-glycoprotein 7|carcinoembryonic antigen SG8" PSBG2 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-06-06 2023-01-20 5670 ENSG00000242221 OTTHUMG00000151547 uc002ovr.4 NM_031246 CCDS12616 P11465 2377620 176391 HGNC:9519 "ENST00000406487.6|NM_031246.4" HGNC:9520 PSG3 pregnancy specific beta-1-glycoprotein 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2023-01-20 5671 ENSG00000221826 OTTHUMG00000151120 uc002oue.4 NM_021016 CCDS12611 Q16557 2341148 "MGI:1347245|MGI:1347246" 176392 HGNC:9520 "ENST00000327495.10|NM_021016.4" -HGNC:9521 PSG4 pregnancy specific beta-1-glycoprotein 4 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 pregnancy-specific beta-1-glycoprotein 4 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2023-01-20 5672 ENSG00000243137 OTTHUMG00000151544 uc002ovy.4 NM_213633 "CCDS62695|CCDS46093|CCDS33039" Q00888 2783133 "MGI:1347245|MGI:1347246" 176393 HGNC:9521 "ENST00000405312.8|NM_002780.5" +HGNC:9521 PSG4 pregnancy specific beta-1-glycoprotein 4 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 pregnancy-specific beta-1-glycoprotein 4 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2023-01-20 5672 ENSG00000243137 OTTHUMG00000151544 uc002ovy.4 NM_213633 "CCDS46093|CCDS62695|CCDS33039" Q00888 2783133 "MGI:1347245|MGI:1347246" 176393 HGNC:9521 "ENST00000405312.8|NM_002780.5" HGNC:9522 PSG5 pregnancy specific beta-1-glycoprotein 5 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "FL-NCA-3|PSG" "pregnancy-specific beta-1 glycoprotein|pregnancy-specific beta 1 glycoprotein" "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2023-01-20 5673 ENSG00000204941 OTTHUMG00000151539 uc060zka.1 NM_002781 CCDS12617 Q15238 2735907 "MGI:1891352|MGI:1891353|MGI:1891358|MGI:1891359|MGI:1891360|MGI:1914565" 176394 HGNC:9522 "ENST00000342951.11|NM_002781.4" HGNC:9523 PSG6 pregnancy specific beta-1-glycoprotein 6 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-10-16 2023-01-20 5675 ENSG00000170848 OTTHUMG00000151127 uc060zix.1 NM_002782 "CCDS12613|CCDS33038" Q00889 1690992 "MGI:1347245|MGI:1347246" 176395 HGNC:9523 "ENST00000187910.7|NM_001031850.4" -HGNC:9524 PSG7 pregnancy specific beta-1-glycoprotein 7 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) Pregnancy specific glycoproteins 1315 1991-09-13 2020-05-01 2023-03-15 5676 ENSG00000221878 OTTHUMG00000151125 uc060zja.1 NM_001206650 CCDS77310 Q13046 1572651 "MGI:1347245|MGI:1347246|MGI:1347251" RGD:1565741 176396 HGNC:9524 "ENST00000406070.7|NM_002783.3" +HGNC:9524 PSG7 pregnancy specific beta-1-glycoprotein 7 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) Pregnancy specific glycoproteins 1315 1991-09-13 2020-05-01 2023-03-15 5676 ENSG00000221878 OTTHUMG00000151125 uc060zja.1 NM_001206650 CCDS77310 Q13046 1572651 "MGI:1347245|MGI:1347246|MGI:1347251" 176396 HGNC:9524 "ENST00000406070.7|NM_002783.3" HGNC:9525 PSG8 pregnancy specific beta-1-glycoprotein 8 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2023-01-20 440533 ENSG00000124467 OTTHUMG00000151118 uc002ouo.2 M74106 NM_001130167 Q9UQ74 "1672663|1572651" "MGI:1347245|MGI:1347246" 176397 HGNC:9525 "ENST00000306511.5|NM_182707.3" HGNC:52550 PSG8-AS1 PSG8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 Antisense RNAs 1987 2016-11-08 2016-11-08 100289650 ENSG00000225877 OTTHUMG00000151551 NR_036584 HGNC:52550 -HGNC:9526 PSG9 pregnancy specific beta-1-glycoprotein 9 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 PSGII PSG11 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2023-01-20 5678 ENSG00000183668 OTTHUMG00000182826 uc002owd.5 M34481 NM_002784 "CCDS77311|CCDS12618|CCDS77314|CCDS77312|CCDS92636" Q00887 7806221 "MGI:1347245|MGI:1347246" 176398 HGNC:9526 "ENST00000270077.8|NM_002784.5" +HGNC:9526 PSG9 pregnancy specific beta-1-glycoprotein 9 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 PSGII PSG11 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2023-01-20 5678 ENSG00000183668 OTTHUMG00000182826 uc002owd.5 M34481 NM_002784 "CCDS77312|CCDS77314|CCDS12618|CCDS77311|CCDS92636" Q00887 7806221 "MGI:1347245|MGI:1347246" 176398 HGNC:9526 "ENST00000270077.8|NM_002784.5" HGNC:9515 PSG10P pregnancy specific beta-1-glycoprotein 10, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 "pregnancy specific beta-1-glycoprotein 12|pregnancy specific beta-1-glycoprotein 120" "PSG12|PSG10" pregnancy specific beta-1-glycoprotein 10 Pregnancy specific glycoproteins 1315 1992-04-09 2010-12-20 2010-12-20 2014-11-19 653492 ENSG00000248257 OTTHUMG00000151550 L14724 XR_016855 1572651 176399 HGNC:9515 HGNC:9516 PSG11 pregnancy specific beta-1-glycoprotein 11 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 MGC22484 pregnancy specific beta-1-glycoprotein 13 "PSG13|PSG14" "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2023-01-20 5680 ENSG00000243130 OTTHUMG00000151546 uc002ovm.2 U25988 NM_002785 "CCDS12614|CCDS12615" Q9UQ72 7794280 176401 HGNC:9516 "ENST00000320078.12|NM_002785.3" HGNC:56358 PSG11-AS1 PSG11, PSG2 and PSG5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.31 19q13.31 "AC004784.1|CTC-490G23.6" Antisense RNAs 1987 2022-10-13 2022-10-13 127379750 ENSG00000282943 XR_001754099 35788729 -HGNC:9527 PSIP1 PC4 and SRSF1 interacting protein 1 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 "p52|LEDGF|p75|DFS70" lens epithelium-derived growth factor PSIP2 "PC4 and SFRS1 interacting protein 2|PC4 and SFRS1 interacting protein 1" Heparin binding growth factor family 1418 1999-09-07 2022-09-28 2023-01-20 11168 ENSG00000164985 OTTHUMG00000021021 uc003zlv.6 AF098482 NM_033222 "CCDS6480|CCDS6479|CCDS83348" O75475 "9822615|9885563" MGI:2142116 RGD:631439 PSIP1 603620 HGNC:9527 "ENST00000380733.9|NM_033222.5" +HGNC:9527 PSIP1 PC4 and SRSF1 interacting protein 1 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 "p52|LEDGF|p75|DFS70" lens epithelium-derived growth factor PSIP2 "PC4 and SFRS1 interacting protein 2|PC4 and SFRS1 interacting protein 1" Heparin binding growth factor family 1418 1999-09-07 2022-09-28 2023-01-20 11168 ENSG00000164985 OTTHUMG00000021021 uc003zlv.6 AF098482 NM_033222 "CCDS6479|CCDS6480|CCDS83348" O75475 "9822615|9885563" MGI:2142116 RGD:631439 PSIP1 603620 HGNC:9527 "ENST00000380733.9|NM_033222.5" HGNC:31132 PSIP1P1 PSIP1 pseudogene 1 pseudogene pseudogene Approved 9p22.3 09p22.3 PSIP1P "PC4 and SFRS1 interacting protein 1 pseudogene|PC4 and SFRS1 interacting protein 1 pseudogene 1" 2004-02-24 2010-02-15 2022-09-28 2022-09-28 353329 ENSG00000234297 OTTHUMG00000019580 AL592293 NG_002792 HGNC:31132 HGNC:23968 PSIP1P2 PSIP1 pseudogene 2 pseudogene pseudogene Approved Yq11 Yq11 PC4 and SFRS1 interacting protein 1 pseudogene 2 2010-02-15 2022-09-28 2022-09-28 360022 NG_002938 12815422 HGNC:23968 HGNC:9529 PSKH1 protein serine kinase H1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 1993-08-04 2023-01-20 5681 ENSG00000159792 OTTHUMG00000137548 uc002euv.3 M14504 NM_006742 CCDS10851 P11801 "8268911|11087665|14644153" MGI:3528383 RGD:1304648 177015 objectId:2178 HGNC:9529 "ENST00000291041.6|NM_006742.3" HGNC:18997 PSKH2 protein serine kinase H2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 2004-06-03 2023-01-20 85481 ENSG00000147613 OTTHUMG00000163638 uc011lfy.3 AY037806 NM_033126 CCDS6240 Q96QS6 620394 objectId:2179 HGNC:18997 "ENST00000276616.3|NM_033126.3" HGNC:54405 PSLNR prostate enriched lncRNA non-coding RNA RNA, long non-coding Approved 22q11.1 22q11.1 LA16c-83F12.6 prostate-specific lncRNA Long non-coding RNAs with non-systematic symbols 1992 2019-07-11 2019-07-11 106146148 ENSG00000225255 NR_132385 31269242 HGNC:54405 -HGNC:9530 PSMA1 proteasome 20S subunit alpha 1 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "HC2|NU|PROS30|MGC14542|MGC14575|MGC14751|MGC1667|MGC21459|MGC22853|MGC23915" proteasome subunit α6 "proteasome (prosome, macropain) subunit, alpha type, 1|proteasome subunit alpha 1" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5682 ENSG00000129084 OTTHUMG00000165825 uc001mlk.4 X61969 NM_002786 "CCDS7816|CCDS31431" P25786 "1398136|2025653" MGI:1347005 RGD:61841 602854 HGNC:9530 "ENST00000396394.7|NM_002786.4" +HGNC:9530 PSMA1 proteasome 20S subunit alpha 1 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "HC2|NU|PROS30|MGC14542|MGC14575|MGC14751|MGC1667|MGC21459|MGC22853|MGC23915" proteasome subunit α6 "proteasome (prosome, macropain) subunit, alpha type, 1|proteasome subunit alpha 1" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5682 ENSG00000129084 OTTHUMG00000165825 uc001mlk.4 X61969 NM_002786 "CCDS31431|CCDS7816" P25786 "1398136|2025653" MGI:1347005 RGD:61841 602854 HGNC:9530 "ENST00000396394.7|NM_002786.4" HGNC:55003 PSMA1P1 PSMA1 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 100422286 ENSG00000225715 NG_026855 HGNC:9531 PSMA2 proteasome 20S subunit alpha 2 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "MU|HC3|PMSA2" "proteasome (prosome, macropain) subunit, alpha type, 2|proteasome subunit alpha 2" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5683 ENSG00000106588 OTTHUMG00000023916 uc003thy.5 D00760 NM_002787 CCDS5467 P25787 "2025653|1888762" MGI:104885 RGD:61842 176842 T01.972 HGNC:9531 "ENST00000223321.9|NM_002787.5" HGNC:43832 PSMA2P1 proteasome subunit alpha 2 pseudogene 1 pseudogene pseudogene Approved 11q14.2 11q14.2 proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 1 2012-03-23 2016-04-04 2016-04-04 100130923 ENSG00000254582 OTTHUMG00000167250 NG_021795 PGOHUM00000242400 HGNC:43832 HGNC:43833 PSMA2P2 proteasome subunit alpha 2 pseudogene 2 pseudogene pseudogene Approved 8q22.1 08q22.1 proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 2 2012-03-23 2016-04-04 2016-04-04 100131775 ENSG00000251234 OTTHUMG00000160491 NG_022397 PGOHUM00000249431 HGNC:43833 HGNC:43834 PSMA2P3 proteasome subunit alpha 2 pseudogene 3 pseudogene pseudogene Approved 2q33.1 02q33.1 PSMA2L proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 3 2012-03-23 2016-04-04 2016-04-04 79055 ENSG00000227890 OTTHUMG00000154579 NG_032680 PGOHUM00000241073 HGNC:43834 -HGNC:9532 PSMA3 proteasome 20S subunit alpha 3 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 HC8 proteasome subunit α7 "proteasome (prosome, macropain) subunit, alpha type, 3|proteasome subunit alpha 3" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5684 ENSG00000100567 OTTHUMG00000140319 uc001xdj.3 NM_002788 "CCDS9731|CCDS45113" P25788 "2025653|8811196" MGI:104883 RGD:61844 176843 470916 T01.977 HGNC:9532 "ENST00000216455.9|NM_002788.4" +HGNC:9532 PSMA3 proteasome 20S subunit alpha 3 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 HC8 proteasome subunit α7 "proteasome (prosome, macropain) subunit, alpha type, 3|proteasome subunit alpha 3" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5684 ENSG00000100567 OTTHUMG00000140319 uc001xdj.3 NM_002788 "CCDS45113|CCDS9731" P25788 "2025653|8811196" MGI:104883 RGD:61844 176843 470916 T01.977 HGNC:9532 "ENST00000216455.9|NM_002788.4" HGNC:26445 PSMA3-AS1 PSMA3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.1 14q23.1 FLJ31306 Antisense RNAs 1987 2014-11-20 2014-11-20 379025 ENSG00000257621 OTTHUMG00000171179 NR_029434 25392693 PSMA3-AS1 HGNC:26445 HGNC:20029 PSMA3P1 proteasome subunit alpha 3 pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 PSMA3P proteasome (prosome, macropain) subunit, alpha type, 3 pseudogene 2003-01-13 2020-04-07 2020-04-07 2020-04-07 326617 ENSG00000258563 OTTHUMG00000171126 NG_002607 PGOHUM00000248194 HGNC:20029 -HGNC:9533 PSMA4 proteasome 20S subunit alpha 4 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "HC9|HsT17706" proteasome subunit α3 "proteasome (prosome, macropain) subunit, alpha type, 4|proteasome subunit alpha 4" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5685 ENSG00000041357 OTTHUMG00000143859 uc002bdu.5 BC005361 NM_002789 "CCDS10303|CCDS86478|CCDS86479|CCDS45319" P25789 2025653 MGI:1347060 RGD:61846 176846 T01.973 HGNC:9533 "ENST00000044462.12|NM_002789.6" +HGNC:9533 PSMA4 proteasome 20S subunit alpha 4 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "HC9|HsT17706" proteasome subunit α3 "proteasome (prosome, macropain) subunit, alpha type, 4|proteasome subunit alpha 4" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5685 ENSG00000041357 OTTHUMG00000143859 uc002bdu.5 BC005361 NM_002789 "CCDS86478|CCDS10303|CCDS45319|CCDS86479" P25789 2025653 MGI:1347060 RGD:61846 176846 T01.973 HGNC:9533 "ENST00000044462.12|NM_002789.6" HGNC:9534 PSMA5 proteasome 20S subunit alpha 5 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 ZETA "proteasome (prosome, macropain) subunit, alpha type, 5|proteasome subunit alpha 5" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5686 ENSG00000143106 OTTHUMG00000012001 uc001dxn.4 X61970 NM_002790 "CCDS55619|CCDS799" P28066 1888762 MGI:1347009 RGD:61848 176844 T01.975 HGNC:9534 "ENST00000271308.9|NM_002790.4" HGNC:54966 PSMA5P1 PSMA5 pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 2020-05-13 2020-05-13 117751738 ENSG00000235136 NG_070704 -HGNC:9535 PSMA6 proteasome 20S subunit alpha 6 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "IOTA|PROS27|p27K|MGC22756|MGC2333|MGC23846" proteasome subunit α1 "proteasome (prosome, macropain) subunit, alpha type, 6|proteasome subunit alpha 6" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5687 ENSG00000100902 OTTHUMG00000140221 uc010tpt.4 X59417 NM_001282232 "CCDS61437|CCDS9655|CCDS61438" P60900 "1888762|8811196" MGI:1347006 RGD:61849 602855 T01.971 HGNC:9535 "ENST00000261479.9|NM_002791.3" +HGNC:9535 PSMA6 proteasome 20S subunit alpha 6 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "IOTA|PROS27|p27K|MGC22756|MGC2333|MGC23846" proteasome subunit α1 "proteasome (prosome, macropain) subunit, alpha type, 6|proteasome subunit alpha 6" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5687 ENSG00000100902 OTTHUMG00000140221 uc010tpt.4 X59417 NM_001282232 "CCDS9655|CCDS61438|CCDS61437" P60900 "1888762|8811196" MGI:1347006 RGD:61849 602855 T01.971 HGNC:9535 "ENST00000261479.9|NM_002791.3" HGNC:17460 PSMA6P1 proteasome subunit alpha 6 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 "PSMA6-LIKE|PSMA6Y" PSMA6P "proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene|proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 1" 2003-02-11 2010-05-05 2016-04-04 2016-04-04 64596 ENSG00000215414 OTTHUMG00000036322 AC010877 NG_002321 9847074 PGOHUM00000233960 HGNC:17460 HGNC:39607 PSMA6P2 proteasome subunit alpha 6 pseudogene 2 pseudogene pseudogene Approved Xp22.2 Xp22.2 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 2 2011-03-17 2016-04-04 2016-04-04 729412 ENSG00000229083 OTTHUMG00000021140 NG_023174 HGNC:39607 HGNC:39608 PSMA6P3 proteasome subunit alpha 6 pseudogene 3 pseudogene pseudogene Approved 21q22.3 21q22.3 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 3 2011-03-17 2016-04-04 2016-04-04 100874510 ENSG00000233767 OTTHUMG00000090441 NG_032329 PGOHUM00000239097 HGNC:39608 HGNC:39609 PSMA6P4 proteasome subunit alpha 6 pseudogene 4 pseudogene pseudogene Approved 13q32.1 13q32.1 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 4 2011-03-17 2016-04-04 2016-04-04 121906 ENSG00000271625 OTTHUMG00000184875 NG_023173 PGOHUM00000248668 HGNC:39609 HGNC:9536 PSMA7 proteasome 20S subunit alpha 7 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "XAPC7|C6|HSPC|RC6-1" "proteasome subunit XAPC7|proteasome subunit RC6-1|proteasome subunit α4" "proteasome (prosome, macropain) subunit, alpha type, 7|proteasome subunit alpha 7" Proteasome 690 1995-11-22 2019-08-29 2023-03-15 5688 ENSG00000101182 OTTHUMG00000032895 uc002ybx.3 AF022815 NM_002792 CCDS13489 O14818 8764072 MGI:1347070 RGD:61851 606607 T01.979 HGNC:9536 "ENST00000370873.9|NM_002792.4" HGNC:20631 PSMA7P1 proteasome subunit alpha 7 pseudogene 1 pseudogene pseudogene Approved 9q22.31 09q22.31 PSMA7P proteasome (prosome, macropain) subunit, alpha type, 7 pseudogene 2003-03-10 2020-04-07 2020-04-07 2020-04-20 117134610 AL354861 NG_068147 HGNC:20631 -HGNC:22985 PSMA8 proteasome 20S subunit alpha 8 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "MGC26605|PSMA7L" "proteasome (prosome, macropain) subunit, alpha type, 8|proteasome subunit alpha 8" Proteasome 690 2005-01-14 2019-08-29 2023-01-20 143471 ENSG00000154611 OTTHUMG00000179426 uc002kvq.4 BC047355 NM_144662 "CCDS32808|CCDS45843|CCDS45842|CCDS77169" Q8TAA3 MGI:1920927 RGD:1311659 617841 T01.974 HGNC:22985 "ENST00000415576.7|NM_001025096.2" +HGNC:22985 PSMA8 proteasome 20S subunit alpha 8 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "MGC26605|PSMA7L" "proteasome (prosome, macropain) subunit, alpha type, 8|proteasome subunit alpha 8" Proteasome 690 2005-01-14 2019-08-29 2023-01-20 143471 ENSG00000154611 OTTHUMG00000179426 uc002kvq.4 BC047355 NM_144662 "CCDS45842|CCDS32808|CCDS45843|CCDS77169" Q8TAA3 MGI:1920927 RGD:1311659 617841 T01.974 HGNC:22985 "ENST00000415576.7|NM_001025096.2" HGNC:9537 PSMB1 proteasome 20S subunit beta 1 protein-coding gene gene with protein product Approved 6q27 06q27 "PMSB1|HC5" proteasome subunit β6 "proteasome (prosome, macropain) subunit, beta type, 1|proteasome subunit beta 1" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5689 ENSG00000008018 OTTHUMG00000016087 uc011ehe.3 D00761 NM_002793 CCDS34577 P20618 2025653 MGI:104884 RGD:621092 602017 T01.986 objectId:2404 HGNC:9537 "ENST00000262193.7|NM_002793.4" -HGNC:9539 PSMB2 proteasome 20S subunit beta 2 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 HC7-I proteasome subunit β4 "proteasome (prosome, macropain) subunit, beta type, 2|proteasome subunit beta 2" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5690 ENSG00000126067 OTTHUMG00000004169 uc001bzf.4 D26599 NM_002794 "CCDS394|CCDS72755" P49721 7918633 MGI:1347045 RGD:61874 602175 T01.984 objectId:2405 HGNC:9539 "ENST00000373237.4|NM_002794.5" +HGNC:9539 PSMB2 proteasome 20S subunit beta 2 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 HC7-I proteasome subunit β4 "proteasome (prosome, macropain) subunit, beta type, 2|proteasome subunit beta 2" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5690 ENSG00000126067 OTTHUMG00000004169 uc001bzf.4 D26599 NM_002794 "CCDS72755|CCDS394" P49721 7918633 MGI:1347045 RGD:61874 602175 T01.984 objectId:2405 HGNC:9539 "ENST00000373237.4|NM_002794.5" HGNC:9540 PSMB3 proteasome 20S subunit beta 3 protein-coding gene gene with protein product Approved 17q12 17q12 "HC10-II|MGC4147" "proteasome (prosome, macropain) subunit, beta type, 3|proteasome subunit beta 3" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5691 ENSG00000277791 OTTHUMG00000188503 uc032glv.2 BC013008 NM_002795 CCDS11328 P49720 7918633 MGI:1347014 RGD:61875 602176 T01.983 HGNC:9540 "ENST00000619426.5|NM_002795.4" HGNC:20633 PSMB3P1 proteasome subunit beta 3 pseudogene 1 pseudogene pseudogene Approved 12q13.2 12q13.2 PSMB3P proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 2003-03-12 2016-04-04 2016-04-04 2020-04-07 121131 ENSG00000258907 OTTHUMG00000170893 AC009779 NG_001533 PGOHUM00000291357 T01.P02 HGNC:20633 HGNC:30150 PSMB3P2 proteasome subunit beta 3 pseudogene 2 pseudogene pseudogene Approved 2q35 02q35 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 2 2007-07-31 2016-04-04 2016-04-04 130700 ENSG00000235444 OTTHUMG00000155343 NG_001538 9847074 PGOHUM00000250449 T01.P03 HGNC:30150 HGNC:9541 PSMB4 proteasome 20S subunit beta 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "HN3|PROS26" proteasome subunit β7 "proteasome (prosome, macropain) subunit, beta type, 4|proteasome subunit beta 4" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5692 ENSG00000159377 OTTHUMG00000012494 uc001eyc.2 D26600 NM_002796 CCDS996 P28070 7918633 MGI:1098257 RGD:61877 602177 470918 T01.987 HGNC:9541 "ENST00000290541.7|NM_002796.3" HGNC:9541 -HGNC:9542 PSMB5 proteasome 20S subunit beta 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MB1 proteasome subunit X "proteasome (prosome, macropain) subunit, beta type, 5|proteasome subunit beta 5" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5693 ENSG00000100804 OTTHUMG00000028713 uc001wii.3 D29011 NM_002797 "CCDS45083|CCDS45084|CCDS9584" P28074 "8066462|8811196" MGI:1194513 RGD:61879 600306 objectId:2406 HGNC:9542 "ENST00000361611.11|NM_002797.5" +HGNC:9542 PSMB5 proteasome 20S subunit beta 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MB1 proteasome subunit X "proteasome (prosome, macropain) subunit, beta type, 5|proteasome subunit beta 5" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5693 ENSG00000100804 OTTHUMG00000028713 uc001wii.3 D29011 NM_002797 "CCDS9584|CCDS45084|CCDS45083" P28074 "8066462|8811196" MGI:1194513 RGD:61879 600306 objectId:2406 HGNC:9542 "ENST00000361611.11|NM_002797.5" HGNC:9543 PSMB6 proteasome 20S subunit beta 6 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "Y|DELTA" proteasome subunit β1 "proteasome (prosome, macropain) subunit, beta type, 6|proteasome subunit beta 6" Proteasome 690 1995-05-03 2019-08-29 2023-01-20 5694 ENSG00000142507 OTTHUMG00000090777 uc002fzb.4 BC000835 NM_002798 "CCDS11056|CCDS73944" P28072 "8066462|1888762" MGI:104880 RGD:61881 600307 T01.010 objectId:2407 HGNC:9543 "ENST00000270586.8|NM_002798.3" HGNC:9544 PSMB7 proteasome 20S subunit beta 7 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 Z proteasome subunit β2 "proteasome (prosome, macropain) subunit, beta type, 7|proteasome subunit beta 7" Proteasome 690 1995-11-22 2019-08-29 2023-01-20 5695 ENSG00000136930 OTTHUMG00000021042 uc004boj.5 AJ420455 NM_002799 CCDS6855 Q99436 8811196 MGI:107637 RGD:621093 604030 T01.011 HGNC:9544 "ENST00000259457.8|NM_002799.4" HGNC:49192 PSMB7P1 PSMB7 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 2013-09-26 2013-09-26 100422289 ENSG00000259074 OTTHUMG00000170785 NG_027332 PGOHUM00000248039 HGNC:49192 -HGNC:9545 PSMB8 proteasome 20S subunit beta 8 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "RING10|D6S216E|PSMB5i|beta5i" proteasome subunit β5i LMP7 "proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)|large multifunctional peptidase 7|proteasome (prosome, macropain) subunit, beta type, 8|proteasome subunit beta 8" Proteasome 690 1992-06-25 2019-08-29 2023-01-20 5696 ENSG00000204264 OTTHUMG00000031285 uc003oce.4 NM_148919 "CCDS4756|CCDS4757" P28062 "1529427|10329130" MGI:1346527 RGD:3426 LRG_1328|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1328.xml 177046 258610 T01.015 objectId:2408 HGNC:9545 "ENST00000374882.8|NM_148919.4" HGNC:9545 +HGNC:9545 PSMB8 proteasome 20S subunit beta 8 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "RING10|D6S216E|PSMB5i|beta5i" proteasome subunit β5i LMP7 "proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)|large multifunctional peptidase 7|proteasome (prosome, macropain) subunit, beta type, 8|proteasome subunit beta 8" Proteasome 690 1992-06-25 2019-08-29 2023-06-07 5696 ENSG00000204264 OTTHUMG00000031285 uc003oce.4 NM_148919 "CCDS4757|CCDS4756" P28062 "1529427|10329130" MGI:1346527 RGD:3426 LRG_1328|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1328.xml 177046 258610 T01.015 objectId:2408 HGNC:9545 "ENST00000374882.8|NM_148919.4" HGNC:9545 HGNC:39758 PSMB8-AS1 PSMB8 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 "XXbac-BPG246D15.8|TAP1-AS1" TAPSAR1 TAP1 and PSMB8 antisense RNA 1 Antisense RNAs 1987 2013-07-25 2014-06-09 2014-06-09 2020-03-12 100507463 ENSG00000204261 OTTHUMG00000140123 NR_037173 32151711 PSMB8-AS1 HGNC:39758 HGNC:9546 PSMB9 proteasome 20S subunit beta 9 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "RING12|beta1i|PSMB6i" proteasome subunit β1i LMP2 "proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)|large multifunctional peptidase 2|proteasome (prosome, macropain) subunit, beta type, 9|proteasome subunit beta 9" Proteasome 690 1991-12-18 2019-08-29 2023-01-20 5698 ENSG00000240065 OTTHUMG00000031287 uc063wzi.1 NM_002800 CCDS4759 P28065 "1922385|1529427" MGI:1346526 RGD:3427 177045 470920 T01.013 objectId:2409 HGNC:9546 "ENST00000374859.3|NM_002800.5" HGNC:9546 HGNC:9538 PSMB10 proteasome 20S subunit beta 10 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "LMP10|MGC1665|beta2i" proteasome subunit β2i MECL1 "proteasome (prosome, macropain) subunit, beta type, 10|proteasome subunit beta 10" Proteasome 690 1993-07-29 2019-08-29 2023-01-20 5699 ENSG00000205220 OTTHUMG00000137553 uc002eux.3 Y13640 NM_002801 CCDS10853 P40306 8268911 MGI:1096380 RGD:1307428 176847 T01.014 HGNC:9538 "ENST00000358514.9|NM_002801.4" HGNC:31963 PSMB11 proteasome subunit beta 11 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 beta5t proteasome (prosome, macropain) subunit, beta type, 11 2008-01-21 2016-04-04 2023-01-20 122706 ENSG00000222028 OTTHUMG00000170279 uc010ake.2 NM_001099780 CCDS41923 A5LHX3 17540904 MGI:1921152 RGD:1308773 611137 T01.016 HGNC:31963 "ENST00000408907.5|NM_001099780.2" -HGNC:9547 PSMC1 proteasome 26S subunit, ATPase 1 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "S4|p56|RPT2" proteasome (prosome, macropain) 26S subunit, ATPase, 1 "AAA ATPases|Proteasome" "413|690" 1995-11-27 2015-08-12 2023-01-20 5700 ENSG00000100764 OTTHUMG00000171019 uc001xyf.4 L02426 NM_002802 "CCDS32139|CCDS81837" P62191 9473509 MGI:106054 RGD:621097 602706 HGNC:9547 "ENST00000261303.13|NM_002802.3" +HGNC:9547 PSMC1 proteasome 26S subunit, ATPase 1 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "S4|p56|RPT2" proteasome (prosome, macropain) 26S subunit, ATPase, 1 "AAA ATPases|Proteasome" "413|690" 1995-11-27 2015-08-12 2023-01-20 5700 ENSG00000100764 OTTHUMG00000171019 uc001xyf.4 L02426 NM_002802 "CCDS81837|CCDS32139" P62191 9473509 MGI:106054 RGD:621097 602706 HGNC:9547 "ENST00000261303.13|NM_002802.3" HGNC:30147 PSMC1P1 proteasome 26S subunit, ATPase 1 pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 bcm3415 PSMC1P "proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene|proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 1" 2004-06-28 2011-03-29 2016-04-04 2016-04-04 151645 ENSG00000241506 OTTHUMG00000158743 NG_001556 PGOHUM00000238055 HGNC:30147 HGNC:39777 PSMC1P2 proteasome 26S subunit, ATPase 1 pseudogene 2 pseudogene pseudogene Approved 7p15.2 07p15.2 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 2 2011-03-29 2016-04-04 2016-04-04 442291 ENSG00000213781 OTTHUMG00000152713 NG_008641 PGOHUM00000233159 HGNC:39777 HGNC:39778 PSMC1P3 proteasome 26S subunit, ATPase 1 pseudogene 3 pseudogene pseudogene Approved 7q33 07q33 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 3 2011-03-29 2016-04-04 2016-04-04 392100 ENSG00000231244 OTTHUMG00000155634 NG_009401 HGNC:39778 @@ -27075,22 +27078,22 @@ HGNC:9548 PSMC2 proteasome 26S subunit, ATPase 2 protein-coding gene gene with p HGNC:54571 PSMC2P1 PSMC2 pseudogene 1 pseudogene pseudogene Approved 3q22.1 03q22.1 2019-10-16 2019-10-16 729674 ENSG00000240854 OTTHUMG00000159651 NG_022271 PGOHUM00000299592 HGNC:54573 PSMC2P2 PSMC2 pseudogene 2 pseudogene pseudogene Approved 8q21.2 08q21.2 2019-10-16 2019-10-16 100422271 ENSG00000253137 OTTHUMG00000164631 NG_026114 PGOHUM00000303608 HGNC:9549 PSMC3 proteasome 26S subunit, ATPase 3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "TBP1|TBP-1|RPT5" Tat-binding protein-1 proteasome (prosome, macropain) 26S subunit, ATPase, 3 "AAA ATPases|Proteasome" "413|690" 1995-12-06 2015-08-12 2023-01-20 5702 ENSG00000165916 OTTHUMG00000167692 uc001nfh.2 M34079 NM_002804 CCDS7935 P17980 "9048938|9473509" MGI:1098754 RGD:61905 186852 HGNC:9549 "ENST00000298852.8|NM_002804.5" -HGNC:17928 PSMC3IP PSMC3 interacting protein protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "TBPIP|GT198|HUMGT198A|Hop2" "TBP-1 interacting protein|homologous-pairing protein 2 homolog" 2006-02-27 2023-01-20 29893 ENSG00000131470 OTTHUMG00000180247 uc002iai.4 "AB030304|BC008792" NM_013290 "CCDS59289|CCDS11431|CCDS45688" Q9P2W1 "7490091|10806355|11739747" MGI:1098610 RGD:621885 608665 285341 HGNC:17928 "ENST00000393795.8|NM_016556.4" HGNC:17928 +HGNC:17928 PSMC3IP PSMC3 interacting protein protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "TBPIP|GT198|HUMGT198A|Hop2" "TBP-1 interacting protein|homologous-pairing protein 2 homolog" 2006-02-27 2023-01-20 29893 ENSG00000131470 OTTHUMG00000180247 uc002iai.4 "AB030304|BC008792" NM_013290 "CCDS11431|CCDS59289|CCDS45688" Q9P2W1 "7490091|10806355|11739747" MGI:1098610 RGD:621885 608665 285341 HGNC:17928 "ENST00000393795.8|NM_016556.4" HGNC:17928 HGNC:9550 PSMC3P1 proteasome 26S subunit, ATPase 3 pseudogene 1 pseudogene pseudogene Approved 9p 09p PSMC3P proteasome (prosome, macropain) 26S subunit, ATPase, 3 pseudogene 1997-06-09 2016-04-04 2016-04-04 2016-04-04 5703 NG_002368 9048938 HGNC:9550 -HGNC:9551 PSMC4 proteasome 26S subunit, ATPase 4 protein-coding gene gene with protein product Approved 19q13.11-q13.13 19q13.11-q13.13 "TBP7|S6|MGC8570|MGC13687|MGC23214|TBP-7|RPT3" "protease 26S subunit 6|Tat-binding protein 7|MB67 interacting protein" MIP224 proteasome (prosome, macropain) 26S subunit, ATPase, 4 "AAA ATPases|Proteasome" "413|690" 1995-12-06 2015-08-12 2023-01-20 5704 ENSG00000013275 OTTHUMG00000182577 uc002omq.5 U27515 NM_006503 "CCDS12547|CCDS46076" P43686 "9473509|8603043" MGI:1346093 RGD:621102 602707 HGNC:9551 "ENST00000157812.7|NM_006503.4" -HGNC:9552 PSMC5 proteasome 26S subunit, ATPase 5 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "SUG1|p45/SUG|TBP10|p45|S8|TRIP1|SUG-1|RPT6" proteasome (prosome, macropain) 26S subunit, ATPase, 5 "AAA ATPases|Proteasome" "413|690" 1995-12-08 2015-08-12 2023-01-20 5705 ENSG00000087191 OTTHUMG00000179013 uc002jcb.4 L38810 NM_002805 "CCDS56043|CCDS11645" P62195 "9473509|9048938" MGI:105047 RGD:708376 601681 HGNC:9552 "ENST00000310144.11|NM_002805.6" +HGNC:9551 PSMC4 proteasome 26S subunit, ATPase 4 protein-coding gene gene with protein product Approved 19q13.11-q13.13 19q13.11-q13.13 "TBP7|S6|MGC8570|MGC13687|MGC23214|TBP-7|RPT3" "protease 26S subunit 6|Tat-binding protein 7|MB67 interacting protein" MIP224 proteasome (prosome, macropain) 26S subunit, ATPase, 4 "AAA ATPases|Proteasome" "413|690" 1995-12-06 2015-08-12 2023-01-20 5704 ENSG00000013275 OTTHUMG00000182577 uc002omq.5 U27515 NM_006503 "CCDS46076|CCDS12547" P43686 "9473509|8603043" MGI:1346093 RGD:621102 602707 HGNC:9551 "ENST00000157812.7|NM_006503.4" +HGNC:9552 PSMC5 proteasome 26S subunit, ATPase 5 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "SUG1|p45/SUG|TBP10|p45|S8|TRIP1|SUG-1|RPT6" proteasome (prosome, macropain) 26S subunit, ATPase, 5 "AAA ATPases|Proteasome" "413|690" 1995-12-08 2015-08-12 2023-01-20 5705 ENSG00000087191 OTTHUMG00000179013 uc002jcb.4 L38810 NM_002805 "CCDS11645|CCDS56043" P62195 "9473509|9048938" MGI:105047 RGD:708376 601681 HGNC:9552 "ENST00000310144.11|NM_002805.6" HGNC:9553 PSMC6 proteasome 26S subunit, ATPase 6 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "p42|RPT5" proteasome (prosome, macropain) 26S subunit, ATPase, 6 "AAA ATPases|Proteasome" "413|690" 1995-12-22 2015-08-12 2023-01-20 5706 ENSG00000100519 OTTHUMG00000152333 uc010tqx.3 NM_002806 CCDS9710 P62333 "8674546|9473509" MGI:1914339 RGD:1308825 602708 HGNC:9553 "ENST00000445930.7|NM_002806.5" HGNC:20634 PSMC6P1 proteasome 26S subunit, ATPase, 6 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 PSMC6P proteasome (prosome, macropain) 26S subunit, ATPase, 6 pseudogene 2003-03-12 2008-03-07 2008-03-07 2014-11-18 266723 NG_002379 HGNC:20634 HGNC:30149 PSMC6P2 proteasome 26S subunit, ATPase, 6 pseudogene 2 pseudogene pseudogene Approved 12q15 12q15 2008-03-07 2010-04-01 160410 NG_001564 HGNC:30149 HGNC:34012 PSMC6P3 proteasome 26S subunit, ATPase, 6 pseudogene 3 pseudogene pseudogene Approved 5p13.3 05p13.3 2008-03-07 2010-04-01 100128218 NG_007662 HGNC:34012 -HGNC:9554 PSMD1 proteasome 26S subunit, non-ATPase 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "S1|P112|Rpn2" proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 "Proteasome|Armadillo like helical domain containing" "690|1492" 1995-11-28 2015-08-12 2023-01-20 5707 ENSG00000173692 OTTHUMG00000133223 uc002vrn.3 D44466 NM_001191037 "CCDS54436|CCDS2482" Q99460 8816993 MGI:1917497 RGD:621669 617842 HGNC:9554 "ENST00000308696.11|NM_002807.4" -HGNC:9559 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "S2|P97|TRAP2|MGC14274|Rpn1" "proteasome (prosome, macropain) 26S subunit, non-ATPase, 2|proteasome 26S subunit, non-ATPase 2" "Proteasome|Armadillo like helical domain containing" "690|1492" 1995-11-28 2021-02-25 2023-01-20 5708 ENSG00000175166 OTTHUMG00000156796 uc003fnn.3 AK095245 NM_002808 "CCDS3258|CCDS63854|CCDS63853" Q13200 8774743 MGI:1096584 RGD:1305752 606223 HGNC:9559 "ENST00000310118.9|NM_002808.5" +HGNC:9554 PSMD1 proteasome 26S subunit, non-ATPase 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "S1|P112|Rpn2" proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 "Proteasome|Armadillo like helical domain containing" "690|1492" 1995-11-28 2015-08-12 2023-01-20 5707 ENSG00000173692 OTTHUMG00000133223 uc002vrn.3 D44466 NM_001191037 "CCDS2482|CCDS54436" Q99460 8816993 MGI:1917497 RGD:621669 617842 HGNC:9554 "ENST00000308696.11|NM_002807.4" +HGNC:9559 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "S2|P97|TRAP2|MGC14274|Rpn1" "proteasome (prosome, macropain) 26S subunit, non-ATPase, 2|proteasome 26S subunit, non-ATPase 2" "Proteasome|Armadillo like helical domain containing" "690|1492" 1995-11-28 2021-02-25 2023-01-20 5708 ENSG00000175166 OTTHUMG00000156796 uc003fnn.3 AK095245 NM_002808 "CCDS63854|CCDS63853|CCDS3258" Q13200 8774743 MGI:1096584 RGD:1305752 606223 HGNC:9559 "ENST00000310118.9|NM_002808.5" HGNC:30154 PSMD2P1 proteasome 26S subunit, non-ATPase, 2 pseudogene 1 pseudogene pseudogene Approved 1q43 01q43 2008-03-07 2008-03-07 2008-03-07 266783 NG_002387 HGNC:30154 HGNC:9560 PSMD3 proteasome 26S subunit, non-ATPase 3 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "S3|P58|Rpn3" TSTA2 "tissue specific transplantation antigen 2|proteasome (prosome, macropain) 26S subunit, non-ATPase, 3" Proteasome 690 1995-11-28 2015-08-12 2023-01-20 5709 ENSG00000108344 OTTHUMG00000133251 uc002htn.3 D67025 NM_002809 CCDS11356 O43242 9017604 MGI:98858 RGD:1311470 617676 HGNC:9560 "ENST00000264639.9|NM_002809.4" HGNC:9561 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "S5A|AF-1|AF|Rpn10" "proteasome (prosome, macropain) 26S subunit, non-ATPase, 4|proteasome 26S subunit, non-ATPase 4" Proteasome 690 1995-11-28 2021-02-25 2023-01-20 5710 ENSG00000159352 OTTHUMG00000012349 uc001exl.4 U51007 NM_002810 "CCDS81375|CCDS991" P55036 8641424 MGI:1201670 RGD:621109 601648 HGNC:9561 "ENST00000368884.8|NM_002810.4" HGNC:9562 PSMD4P1 proteasome 26S subunit, non-ATPase 4 pseudogene 1 pseudogene pseudogene Approved 21q22.13 21q22.13 "PSMD4P|PSMD15" "proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene|proteasome (prosome, macropain) 26S subunit, non-ATPase, 15|proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 pseudogene 1" 2000-05-23 2010-12-20 2016-04-04 2016-10-05 54035 ENSG00000223741 OTTHUMG00000086641 NG_002723 HGNC:9562 HGNC:9563 PSMD5 proteasome 26S subunit, non-ATPase 5 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "S5B|KIAA0072" proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 "Proteasome|Armadillo like helical domain containing" "690|1492" 1995-12-05 2015-08-12 2023-01-20 5711 ENSG00000095261 OTTHUMG00000020573 uc004bko.5 AK001065 NM_005047 "CCDS6824|CCDS59143" Q16401 7559544 MGI:1914248 RGD:1308434 604452 HGNC:9563 "ENST00000210313.8|NM_005047.4" -HGNC:9564 PSMD6 proteasome 26S subunit, non-ATPase 6 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "S10|p44S10|KIAA0107|Rpn7" proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 Proteasome 690 1995-12-06 2015-08-12 2023-01-20 9861 ENSG00000163636 OTTHUMG00000158765 uc003dma.3 AF215935 NM_014814 "CCDS63677|CCDS2901|CCDS63678|CCDS63679" Q15008 10723133 MGI:1913663 RGD:735127 617857 HGNC:9564 "ENST00000295901.9|NM_014814.3" +HGNC:9564 PSMD6 proteasome 26S subunit, non-ATPase 6 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "S10|p44S10|KIAA0107|Rpn7" proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 Proteasome 690 1995-12-06 2015-08-12 2023-01-20 9861 ENSG00000163636 OTTHUMG00000158765 uc003dma.3 AF215935 NM_014814 "CCDS63677|CCDS63679|CCDS63678|CCDS2901" Q15008 10723133 MGI:1913663 RGD:735127 617857 HGNC:9564 "ENST00000295901.9|NM_014814.3" HGNC:40480 PSMD6-AS1 PSMD6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 "ENST00000462717|lnc00462717" Antisense RNAs 1987 2017-01-06 2017-02-15 109729140 ENSG00000243410 OTTHUMG00000158762 "27997908|28189682" HGNC:44125 PSMD6-AS2 PSMD6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 PSMD6 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507062 ENSG00000239653 OTTHUMG00000158764 uc003dly.3 AK023371 NR_038286 PSMD6-AS2 HGNC:44125 HGNC:9565 PSMD7 proteasome 26S subunit, non-ATPase 7 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "S12|P40|MOV34|Rpn8" Mov34 homolog "proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)|proteasome (prosome, macropain) 26S subunit, non-ATPase, 7" "Proteasome|JAMM/MPN+ metallopeptidase family" "690|999" 1991-06-05 2015-08-12 2023-01-20 5713 ENSG00000103035 OTTHUMG00000137601 uc002fcq.3 D50063 NM_002811 CCDS10910 P51665 7755639 MGI:1351511 RGD:1306902 157970 M67.973 HGNC:9565 "ENST00000219313.9|NM_002811.5" @@ -27106,11 +27109,11 @@ HGNC:30152 PSMD10P3 proteasome 26S subunit, non-ATPase, 10 pseudogene 3 pseudoge HGNC:9556 PSMD11 proteasome 26S subunit, non-ATPase 11 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "S9|p44.5|MGC3844|Rpn6" proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 Proteasome 690 1997-02-19 2015-08-12 2023-01-20 5717 ENSG00000108671 OTTHUMG00000132811 uc002hhm.5 AB003102 NM_002815 CCDS11272 O00231 "9426256|9119060" MGI:1916327 RGD:1306450 604449 HGNC:9556 "ENST00000261712.8|NM_002815.4" HGNC:9557 PSMD12 proteasome 26S subunit, non-ATPase 12 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "p55|Rpn5" proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 Proteasome 690 1997-02-19 2015-08-12 2023-01-20 5718 ENSG00000197170 OTTHUMG00000140376 uc002jfy.4 AB003103 "NM_002816|NM_174871" "CCDS11669|CCDS11670" O00232 9426256 MGI:1914247 RGD:1359305 604450 HGNC:9557 "ENST00000356126.8|NM_002816.5" HGNC:9557 HGNC:30153 PSMD12P1 PSMD12 pseudogene 1 pseudogene pseudogene Approved 3p13 03p13 PSMD12P proteasome 26S subunit, non-ATPase, 12 pseudogene 2008-03-07 2019-12-19 2019-12-19 2019-12-19 317753 ENSG00000240135 OTTHUMG00000158817 NG_002463 PGOHUM00000299056 HGNC:30153 -HGNC:9558 PSMD13 proteasome 26S subunit, non-ATPase 13 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "p40.5|Rpn9" proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 Proteasome 690 1997-02-19 2015-08-12 2023-01-20 5719 ENSG00000185627 OTTHUMG00000119072 uc001lol.3 AB009398 NM_002817 "CCDS7692|CCDS44504" Q9UNM6 "9714768|8811196" MGI:1345192 RGD:1305236 603481 HGNC:9558 "ENST00000532097.6|NM_002817.4" +HGNC:9558 PSMD13 proteasome 26S subunit, non-ATPase 13 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "p40.5|Rpn9" proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 Proteasome 690 1997-02-19 2015-08-12 2023-01-20 5719 ENSG00000185627 OTTHUMG00000119072 uc001lol.3 AB009398 NM_002817 "CCDS44504|CCDS7692" Q9UNM6 "9714768|8811196" MGI:1345192 RGD:1305236 603481 HGNC:9558 "ENST00000532097.6|NM_002817.4" HGNC:16889 PSMD14 proteasome 26S subunit, non-ATPase 14 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "POH1|pad1|Rpn11" proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 "Proteasome|JAMM/MPN+ metallopeptidase family" "690|999" 2003-03-17 2015-08-12 2023-01-20 10213 ENSG00000115233 OTTHUMG00000153882 uc002ubu.4 U86782 NM_005805 CCDS46437 O00487 9374539 MGI:1913284 RGD:1594532 607173 objectId:2410 HGNC:16889 "ENST00000409682.8|NM_005805.6" HGNC:56104 PSMD14-DT PSMD14 divergent transcript non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Divergent transcripts 1990 2022-01-06 2022-01-06 101929512 ENSG00000235724 NR_110593 HGNC:54533 PSMD14P1 PSMD14 pseudogene 1 pseudogene pseudogene Approved 2q14.3 02q14.3 2019-10-11 2019-10-11 100131284 ENSG00000227738 NG_021581 HGNC:54533 -HGNC:9568 PSME1 proteasome activator subunit 1 protein-coding gene gene with protein product Approved 14q12 14q12 "IFI5111|PA28alpha" proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) Proteasome 690 1997-02-11 2015-08-12 2023-01-20 5720 ENSG00000092010 OTTHUMG00000028795 uc001wmg.4 NM_006263 "CCDS41930|CCDS9612|CCDS61415" Q06323 8269930 MGI:1096367 RGD:3429 600654 HGNC:9568 "ENST00000206451.11|NM_006263.4" +HGNC:9568 PSME1 proteasome activator subunit 1 protein-coding gene gene with protein product Approved 14q12 14q12 "IFI5111|PA28alpha" proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) Proteasome 690 1997-02-11 2015-08-12 2023-01-20 5720 ENSG00000092010 OTTHUMG00000028795 uc001wmg.4 NM_006263 "CCDS61415|CCDS41930|CCDS9612" Q06323 8269930 MGI:1096367 RGD:3429 600654 HGNC:9568 "ENST00000206451.11|NM_006263.4" HGNC:9569 PSME2 proteasome activator subunit 2 protein-coding gene gene with protein product Approved 14q12 14q12 PA28beta proteasome (prosome, macropain) activator subunit 2 (PA28 beta) "Proteasome|MicroRNA protein coding host genes" "690|1691" 1997-02-11 2015-08-12 2023-01-20 5721 ENSG00000100911 OTTHUMG00000028797 uc001wmj.4 NM_002818 CCDS9614 Q9UL46 7789512 MGI:1096365 RGD:3430 602161 HGNC:9569 "ENST00000216802.10|NM_002818.3" HGNC:20632 PSME2P1 proteasome activator subunit 2 pseudogene 1 pseudogene pseudogene Approved 5q15 05q15 PSME2P proteasome (prosome, macropain) activator subunit 2 pseudogene 2003-03-10 2008-03-07 2008-03-07 2020-03-31 257093 ENSG00000238000 OTTHUMG00000162714 AC116347 NG_002626 PGOHUM00000301066 HGNC:20632 HGNC:30160 PSME2P2 proteasome activator subunit 2 pseudogene 2 pseudogene pseudogene Approved 13q14.2 13q14.2 2008-03-07 2008-03-07 2014-11-19 338099 ENSG00000225131 OTTHUMG00000016907 NG_002632 PGOHUM00000248589 HGNC:30160 @@ -27118,52 +27121,52 @@ HGNC:30156 PSME2P3 proteasome activator subunit 2 pseudogene 3 pseudogene pseudo HGNC:30157 PSME2P4 proteasome activator subunit 2 pseudogene 4 pseudogene pseudogene Approved 4p14 04p14 2008-03-07 2020-03-31 338096 ENSG00000251332 OTTHUMG00000160425 NG_002629 PGOHUM00000245497 HGNC:30157 HGNC:30158 PSME2P5 proteasome activator subunit 2 pseudogene 5 pseudogene pseudogene Approved 8p21.2 08p21.2 2008-03-07 2020-03-31 338097 ENSG00000253208 OTTHUMG00000163884 NG_002630 PGOHUM00000249596 HGNC:30158 HGNC:30159 PSME2P6 proteasome activator subunit 2 pseudogene 6 pseudogene pseudogene Approved 10p12.31 10p12.31 2008-03-07 2016-08-16 338098 ENSG00000227462 OTTHUMG00000017802 NG_002631 PGOHUM00000290068 HGNC:30159 -HGNC:9570 PSME3 proteasome activator subunit 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "Ki|PA28-gamma|REG-GAMMA|PA28G" proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) Proteasome 690 1999-06-04 2015-08-12 2023-01-20 10197 ENSG00000131467 OTTHUMG00000180654 uc002ibr.5 U11292 NM_176863 "CCDS11442|CCDS82133|CCDS45689|CCDS59290" P61289 7951316 MGI:1096366 RGD:1306996 605129 HGNC:9570 "ENST00000590720.6|NM_005789.4" +HGNC:9570 PSME3 proteasome activator subunit 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "Ki|PA28-gamma|REG-GAMMA|PA28G" proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) Proteasome 690 1999-06-04 2015-08-12 2023-01-20 10197 ENSG00000131467 OTTHUMG00000180654 uc002ibr.5 U11292 NM_176863 "CCDS59290|CCDS45689|CCDS82133|CCDS11442" P61289 7951316 MGI:1096366 RGD:1306996 605129 HGNC:9570 "ENST00000590720.6|NM_005789.4" HGNC:29856 PSME3IP1 proteasome activator subunit 3 interacting protein 1 protein-coding gene gene with protein product Approved 16q13 16q13 "NIP30|PIP30" "NEFA interacting nuclear protein NIP30|PA28G interacting protein 30kDa|PSME3 interacting protein 30kDa" "C16orf94|FAM192A" "chromosome 16 open reading frame 94|family with sequence similarity 192 member A" 2009-07-30 2019-09-05 2019-09-05 2023-01-20 80011 ENSG00000172775 OTTHUMG00000176660 uc021tiy.1 NM_024946 CCDS42168 Q9GZU8 "26497270|29934401" MGI:1919637 RGD:1307433 617766 HGNC:29856 "ENST00000309137.13|NM_024946.4" HGNC:20635 PSME4 proteasome activator subunit 4 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 "PA200|KIAA0077" proteasome (prosome, macropain) activator subunit 4 "Proteasome|Armadillo like helical domain containing" "690|1492" 2003-04-14 2015-08-12 2023-01-20 23198 ENSG00000068878 OTTHUMG00000151852 uc002rxp.2 D38521 NM_014614 CCDS33197 Q14997 "7584044|12093752" MGI:2143994 RGD:1591971 607705 HGNC:20635 "ENST00000404125.6|NM_014614.3" HGNC:9571 PSMF1 proteasome inhibitor subunit 1 protein-coding gene gene with protein product Approved 20p13 20p13 PI31 proteasome inhibitor hP131 subunit proteasome (prosome, macropain) inhibitor subunit 1 (PI31) Proteasome 690 1999-04-15 2015-08-12 2023-01-20 9491 ENSG00000125818 OTTHUMG00000031656 uc002wel.4 D88378 NM_178578 "CCDS82589|CCDS13010" Q92530 10363639 MGI:1346072 RGD:1587528 617858 HGNC:9571 "ENST00000335877.11|NM_006814.5" HGNC:3043 PSMG1 proteasome assembly chaperone 1 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "c21-LRP|LRPC21|PAC1" DSCR2 "Down syndrome critical region gene 2|proteasome (prosome, macropain) assembly chaperone 1" 1999-09-17 2007-10-23 2016-04-04 2023-01-20 8624 ENSG00000183527 OTTHUMG00000066034 uc002yxi.5 AJ006291 NM_003720 "CCDS13661|CCDS13660" O95456 "10872820|17189198" MGI:1860263 RGD:1305454 605296 HGNC:3043 "ENST00000331573.8|NM_003720.4" -HGNC:24929 PSMG2 proteasome assembly chaperone 2 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "HCCA3|MDS003|MGC15092|CLAST3|HsT1707|PAC2" "hepatocellular carcinoma susceptibility protein|CD40 ligand-activated specific transcript 3" TNFSF5IP1 "tumor necrosis factor superfamily, member 5-induced protein 1|proteasome (prosome, macropain) assembly chaperone 2" 2004-03-04 2007-10-23 2016-04-04 2023-01-20 56984 ENSG00000128789 OTTHUMG00000131703 uc002krk.5 AF276707 NM_020232 "CCDS67440|CCDS11862" Q969U7 "11854909|12147697|17189198" MGI:1922901 RGD:1304867 609702 HGNC:24929 "ENST00000317615.11|NM_020232.5" +HGNC:24929 PSMG2 proteasome assembly chaperone 2 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "HCCA3|MDS003|MGC15092|CLAST3|HsT1707|PAC2" "hepatocellular carcinoma susceptibility protein|CD40 ligand-activated specific transcript 3" TNFSF5IP1 "tumor necrosis factor superfamily, member 5-induced protein 1|proteasome (prosome, macropain) assembly chaperone 2" 2004-03-04 2007-10-23 2016-04-04 2023-01-20 56984 ENSG00000128789 OTTHUMG00000131703 uc002krk.5 AF276707 NM_020232 "CCDS11862|CCDS67440" Q969U7 "11854909|12147697|17189198" MGI:1922901 RGD:1304867 609702 HGNC:24929 "ENST00000317615.11|NM_020232.5" HGNC:22420 PSMG3 proteasome assembly chaperone 3 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "MGC10911|PAC3" C7orf48 "chromosome 7 open reading frame 48|proteasome (prosome, macropain) assembly chaperone 3" 2006-08-30 2007-08-16 2016-04-04 2023-01-20 84262 ENSG00000157778 OTTHUMG00000119043 uc064axx.1 BC027171 NM_032302 CCDS5327 Q9BT73 17189198 MGI:1913756 RGD:2319950 617528 HGNC:22420 "ENST00000288607.3|NM_032302.4" HGNC:22230 PSMG3-AS1 PSMG3 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 KIAA1908 Antisense RNAs 1987 2012-11-06 2020-06-03 114796 ENSG00000230487 OTTHUMG00000151452 uc021zys.2 NR_021487 Q96PY0 32471413 PSMG3-AS1 HGNC:22230 HGNC:56588 PSMG3P1 PSMG3 pseudogene 1 pseudogene pseudogene Approved 3q26.33 03q26.33 2022-11-03 2022-11-03 127482541 ENSG00000241946 PGOHUM00000299286 HGNC:56593 PSMG3P2 PSMG3 pseudogene 2 pseudogene pseudogene Approved 3q26.33 03q26.33 2022-11-03 2022-11-03 127482543 ENSG00000239805 NG_148550 PGOHUM00000299292 -HGNC:21108 PSMG4 proteasome assembly chaperone 4 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 PAC4 C6orf86 "chromosome 6 open reading frame 86|proteasome (prosome, macropain) assembly chaperone 4" 2003-11-26 2008-02-25 2016-04-04 2023-01-20 389362 ENSG00000180822 OTTHUMG00000014142 uc010jnm.2 NM_001128591 "CCDS47361|CCDS47360|CCDS47362" Q5JS54 17707236 MGI:1916916 RGD:1589955 617550 HGNC:21108 "ENST00000438998.7|NM_001128591.2" +HGNC:21108 PSMG4 proteasome assembly chaperone 4 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 PAC4 C6orf86 "chromosome 6 open reading frame 86|proteasome (prosome, macropain) assembly chaperone 4" 2003-11-26 2008-02-25 2016-04-04 2023-01-20 389362 ENSG00000180822 OTTHUMG00000014142 uc010jnm.2 NM_001128591 "CCDS47362|CCDS47361|CCDS47360" Q5JS54 17707236 MGI:1916916 RGD:1589955 617550 HGNC:21108 "ENST00000438998.7|NM_001128591.2" HGNC:17202 PSORS1C1 psoriasis susceptibility 1 candidate 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 SEEK1 C6orf16 chromosome 6 open reading frame 16 2002-02-13 2003-06-12 2023-01-20 170679 ENSG00000204540 OTTHUMG00000031077 uc003nsl.2 AB031479 NM_014068 CCDS34390 Q9UIG5 613525 HGNC:17202 "ENST00000259881.10|NM_014068.3" HGNC:17199 PSORS1C2 psoriasis susceptibility 1 candidate 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 SPR1 C6orf17 chromosome 6 open reading frame 17 2002-02-13 2003-06-12 2023-01-20 170680 ENSG00000204538 OTTHUMG00000031081 uc003nso.5 AB031480 NM_014069 CCDS4694 Q9UIG4 27943452 MGI:1930025 RGD:1591981 613526 HGNC:17199 "ENST00000259845.5|NM_014069.3" HGNC:17203 PSORS1C3 psoriasis susceptibility 1 candidate 3 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 NCRNA00196 non-protein coding RNA 196 "psoriasis susceptibility 1 candidate 3|psoriasis susceptibility 1 candidate 3 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-02-13 2018-05-16 2018-05-16 100130889 ENSG00000204528 OTTHUMG00000031054 uc011dnh.1 NR_026816 27716329 618690 PSORS1C3 HGNC:17203 -HGNC:20320 PSPC1 paraspeckle component 1 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "PSP1|FLJ10955" RNA binding motif containing 725 2003-04-07 2023-01-20 55269 ENSG00000121390 OTTHUMG00000016502 uc058vtc.1 AK001817 NM_001042414 "CCDS86343|CCDS41870" Q8WXF1 11790299 MGI:1913895 RGD:1310122 612408 HGNC:20320 "ENST00000338910.9|NM_001354909.2" +HGNC:20320 PSPC1 paraspeckle component 1 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "PSP1|FLJ10955" RNA binding motif containing 725 2003-04-07 2023-01-20 55269 ENSG00000121390 OTTHUMG00000016502 uc058vtc.1 AK001817 NM_001042414 "CCDS41870|CCDS86343" Q8WXF1 11790299 MGI:1913895 RGD:1310122 612408 HGNC:20320 "ENST00000338910.9|NM_001354909.2" HGNC:52951 PSPC1-AS2 PSPC1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 RP11-523H24.3 Antisense RNAs 1987 2016-12-21 2016-12-21 2017-03-22 109729130 ENSG00000226352 OTTHUMG00000016499 27714034 HGNC:42033 PSPC1P1 paraspeckle component 1 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-06-01 2014-11-18 642395 ENSG00000227879 OTTHUMG00000016480 NG_011334 PGOHUM00000248305 HGNC:42033 HGNC:42643 PSPC1P2 paraspeckle component 1 pseudogene 2 pseudogene pseudogene Approved 13q12.12 13q12.12 2011-08-10 2013-09-03 100873875 ENSG00000244615 OTTHUMG00000016585 NG_032524 HGNC:42643 HGNC:9577 PSPH phosphoserine phosphatase protein-coding gene gene with protein product Approved 7p11.2 07p11.2 PSP HAD Asp-based non-protein phosphatases 1045 2001-06-22 2023-01-20 5723 ENSG00000146733 OTTHUMG00000023441 uc003trh.4 Y10275 NM_004577 CCDS5522 P78330 "6297854|9188776" MGI:97788 RGD:1308764 172480 118111 3.1.3.3 HGNC:9577 "ENST00000275605.8|NM_004577.4" HGNC:9577 HGNC:9578 PSPHP1 phosphoserine phosphatase pseudogene 1 pseudogene pseudogene Approved 7p11.2 07p11.2 CO9 L-3-phosphoserine-phosphatase homolog PSPHL phosphoserine phosphatase-like 1999-07-09 2011-09-02 2011-09-02 2011-09-02 8781 ENSG00000226278 OTTHUMG00000156125 AJ001612 XM_926720 O15172 9573387 604239 PGOHUM00000233245 HGNC:9578 HGNC:9579 PSPN persephin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 PSP GDNF family ligands 1586 1997-10-10 2023-01-20 5623 ENSG00000125650 OTTHUMG00000168086 uc010xja.2 AF040962 NM_004158 CCDS12164 O60542 10072588 MGI:1201684 RGD:3432 602921 ligandId:5045 HGNC:9579 "ENST00000245810.2|NM_004158.5" -HGNC:24472 PSRC1 proline and serine rich coiled-coil 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 DDA3 differential display and activated by p53 proline/serine-rich coiled-coil 1 2005-08-08 2016-04-06 2023-01-20 84722 ENSG00000134222 OTTHUMG00000012000 uc031ukv.2 NM_032636 "CCDS30791|CCDS797|CCDS30792" Q6PGN9 "12427559|10618717" MGI:1913099 RGD:1585037 613126 HGNC:24472 "ENST00000369909.7|NM_001032291.3" +HGNC:24472 PSRC1 proline and serine rich coiled-coil 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 DDA3 differential display and activated by p53 proline/serine-rich coiled-coil 1 2005-08-08 2016-04-06 2023-01-20 84722 ENSG00000134222 OTTHUMG00000012000 uc031ukv.2 NM_032636 "CCDS30792|CCDS797|CCDS30791" Q6PGN9 "12427559|10618717" MGI:1913099 RGD:1585037 613126 HGNC:24472 "ENST00000369909.7|NM_001032291.3" HGNC:28578 PSTK phosphoseryl-tRNA kinase protein-coding gene gene with protein product Approved 10q26.13 10q26.13 MGC35392 "L-seryl-tRNA(Sec) kinase|O-phosphoseryl-tRNA(Sec) kinase" C10orf89 chromosome 10 open reading frame 89 2004-03-16 2007-04-17 2007-04-17 2023-01-20 118672 ENSG00000179988 OTTHUMG00000019191 uc001lgy.2 AK127173 NM_153336 "CCDS7633|CCDS86153" Q8IV42 15317934 MGI:2685945 RGD:1564300 611310 2.7.1.164 HGNC:28578 "ENST00000406217.8|NM_001363531.2" -HGNC:9580 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "PSTPIP|CD2BP1L|CD2BP1|CD2BP1S|H-PIP|PAPAS" "CD2 cytoplasmic tail-binding protein|CD2 antigen-binding protein 1|PEST phosphatase-interacting protein 1" F-BAR domain containing 1288 1999-01-12 2023-01-20 9051 ENSG00000140368 OTTHUMG00000172594 uc002bcf.3 U94778 NM_003978 "CCDS45312|CCDS92045|CCDS81910" O43586 9857189 MGI:1321396 RGD:1307557 "PAPA syndrome: INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_172|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_172.xml" 606347 118114 HGNC:9580 "ENST00000558012.6|NM_003978.5" HGNC:9580 +HGNC:9580 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "PSTPIP|CD2BP1L|CD2BP1|CD2BP1S|H-PIP|PAPAS" "CD2 cytoplasmic tail-binding protein|CD2 antigen-binding protein 1|PEST phosphatase-interacting protein 1" F-BAR domain containing 1288 1999-01-12 2023-01-20 9051 ENSG00000140368 OTTHUMG00000172594 uc002bcf.3 U94778 NM_003978 "CCDS92045|CCDS45312|CCDS81910" O43586 9857189 MGI:1321396 RGD:1307557 "PAPA syndrome: INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_172|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_172.xml" 606347 118114 HGNC:9580 "ENST00000558012.6|NM_003978.5" HGNC:9580 HGNC:9581 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 F-BAR domain containing 1288 1999-01-12 2023-01-20 9050 ENSG00000152229 OTTHUMG00000152674 uc002lbp.5 NM_024430 CCDS32820 Q9H939 9804817 MGI:1335088 RGD:1563090 616046 HGNC:9581 "ENST00000409746.5|NM_024430.4" HGNC:9582 PTAFR platelet activating factor receptor protein-coding gene gene with protein product Approved 1p35.3 01p35.3 Platelet activating factor receptor 208 1991-11-14 2016-03-09 2023-01-20 5724 ENSG00000169403 OTTHUMG00000003953 uc009vte.3 BC063000 NM_000952 CCDS318 P25105 1322356 MGI:106066 RGD:61897 173393 objectId:334 HGNC:9582 "ENST00000373857.8|NM_000952.5" HGNC:30449 PTAR1 protein prenyltransferase alpha subunit repeat containing 1 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 Prenyltransferase alpha subunit repeat containing 687 2004-05-10 2023-01-20 375743 ENSG00000188647 OTTHUMG00000019982 uc004ahi.4 BC053622 NM_001099666 "CCDS47978|CCDS94417" Q7Z6K3 31209342 MGI:1921875 RGD:708369 HGNC:30449 "ENST00000340434.5|NM_001099666.2" -HGNC:9583 PTBP1 polypyrimidine tract binding protein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HNRPI|HNRNP-I|PTB2|PTB3|PTB-1|PTB4|pPTB" heterogeneous nuclear ribonucleoprotein I PTB polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I) "RNA binding motif containing|MicroRNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins" "725|1691|1950" 1992-06-29 2002-01-25 2002-01-25 2023-03-15 5725 ENSG00000011304 OTTHUMG00000181789 uc002lpr.3 X60648 NM_002819 "CCDS42456|CCDS92475|CCDS32859|CCDS45892" P26599 "1906036|11024286" MGI:97791 RGD:62047 600693 HGNC:9583 "ENST00000356948.11|NM_002819.5" +HGNC:9583 PTBP1 polypyrimidine tract binding protein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HNRPI|HNRNP-I|PTB2|PTB3|PTB-1|PTB4|pPTB" heterogeneous nuclear ribonucleoprotein I PTB polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I) "RNA binding motif containing|MicroRNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins" "725|1691|1950" 1992-06-29 2002-01-25 2002-01-25 2023-03-15 5725 ENSG00000011304 OTTHUMG00000181789 uc002lpr.3 X60648 NM_002819 "CCDS45892|CCDS32859|CCDS42456|CCDS92475" P26599 "1906036|11024286" MGI:97791 RGD:62047 600693 HGNC:9583 "ENST00000356948.11|NM_002819.5" HGNC:20030 PTBP1P polypyrimidine tract binding protein 1 pseudogene pseudogene pseudogene Approved 14q23.3 14q23.3 2003-01-13 2014-11-19 122888 ENSG00000259078 OTTHUMG00000171170 NG_002328 PGOHUM00000248204 HGNC:20030 -HGNC:17662 PTBP2 polypyrimidine tract binding protein 2 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "brPTB|nPTB|PTB|PTBLP" "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2002-01-25 2023-01-20 58155 ENSG00000117569 OTTHUMG00000010685 uc001drq.4 AB051232 NM_001300985 "CCDS72829|CCDS72828|CCDS91005|CCDS72830|CCDS91006|CCDS754" Q9UKA9 11003644 MGI:1860489 RGD:1359267 608449 HGNC:17662 "ENST00000674951.1|NM_021190.4" -HGNC:10253 PTBP3 polypyrimidine tract binding protein 3 protein-coding gene gene with protein product Approved 9q32 09q32 DKFZp781I1117 ROD1 "regulator of differentiation (in S. pombe) 1|ROD1 regulator of differentiation 1 (S. pombe)" RNA binding motif containing 725 1999-10-26 2011-11-16 2011-11-16 2023-01-20 9991 ENSG00000119314 OTTHUMG00000020503 uc004bfw.4 AB023967 NM_001163788 "CCDS59140|CCDS59141|CCDS6784|CCDS55332|CCDS55333" O95758 10207106 MGI:1923334 RGD:621671 607527 HGNC:10253 "ENST00000374257.6|NM_001163788.4" +HGNC:17662 PTBP2 polypyrimidine tract binding protein 2 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "brPTB|nPTB|PTB|PTBLP" "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2002-01-25 2023-01-20 58155 ENSG00000117569 OTTHUMG00000010685 uc001drq.4 AB051232 NM_001300985 "CCDS91005|CCDS754|CCDS72830|CCDS91006|CCDS72828|CCDS72829" Q9UKA9 11003644 MGI:1860489 RGD:1359267 608449 HGNC:17662 "ENST00000674951.1|NM_021190.4" +HGNC:10253 PTBP3 polypyrimidine tract binding protein 3 protein-coding gene gene with protein product Approved 9q32 09q32 DKFZp781I1117 ROD1 "regulator of differentiation (in S. pombe) 1|ROD1 regulator of differentiation 1 (S. pombe)" RNA binding motif containing 725 1999-10-26 2011-11-16 2011-11-16 2023-01-20 9991 ENSG00000119314 OTTHUMG00000020503 uc004bfw.4 AB023967 NM_001163788 "CCDS55332|CCDS6784|CCDS59140|CCDS59141|CCDS55333" O95758 10207106 MGI:1923334 RGD:621671 607527 HGNC:10253 "ENST00000374257.6|NM_001163788.4" HGNC:22198 PTCD1 pentatricopeptide repeat domain 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 KIAA0632 Pentatricopeptide repeat containing 1823 2004-04-05 2023-01-20 26024 ENSG00000106246 OTTHUMG00000154600 uc003uqh.4 AB014532 NM_015545 CCDS34691 O75127 MGI:1919049 614774 HGNC:22198 "ENST00000292478.9|NM_015545.4" -HGNC:25734 PTCD2 pentatricopeptide repeat domain 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 FLJ12598 Pentatricopeptide repeat containing 1823 2004-04-05 2023-01-20 79810 ENSG00000049883 OTTHUMG00000100953 uc003kcb.5 BC018720 NM_024754 "CCDS68891|CCDS75258|CCDS4014|CCDS68892" Q8WV60 23635806 MGI:1916177 RGD:1310308 615484 HGNC:25734 "ENST00000380639.10|NM_024754.5" +HGNC:25734 PTCD2 pentatricopeptide repeat domain 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 FLJ12598 Pentatricopeptide repeat containing 1823 2004-04-05 2023-01-20 79810 ENSG00000049883 OTTHUMG00000100953 uc003kcb.5 BC018720 NM_024754 "CCDS75258|CCDS68891|CCDS4014|CCDS68892" Q8WV60 23635806 MGI:1916177 RGD:1310308 615484 HGNC:25734 "ENST00000380639.10|NM_024754.5" HGNC:31718 PTCD2P1 pentatricopeptide repeat domain 2 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 2004-06-17 2020-04-20 100131302 ENSG00000258456 OTTHUMG00000170987 NG_022837 PGOHUM00000247728 HGNC:31718 HGNC:45168 PTCD2P2 pentatricopeptide repeat domain 2 pseudogene 2 pseudogene pseudogene Approved 10q23.31 10q23.31 2013-02-28 2013-02-28 100132487 ENSG00000234256 OTTHUMG00000018704 NG_022186 PGOHUM00000238880 HGNC:45168 HGNC:24717 PTCD3 pentatricopeptide repeat domain 3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ20758|DKFZp666K071" "Pentatricopeptide repeat containing|Small nucleolar RNA protein coding host genes" "1823|1835" 2006-08-07 2012-02-24 2023-01-20 55037 ENSG00000132300 OTTHUMG00000153168 uc002sqw.2 NM_017952 CCDS33235 Q96EY7 8889548 MGI:1917206 RGD:1565582 614918 HGNC:24717 "ENST00000254630.12|NM_017952.6" HGNC:24717 -HGNC:9585 PTCH1 patched 1 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 BCNS "NBCCS|PTCH" "patched (Drosophila) homolog|patched homolog (Drosophila)|patched homolog 1 (Drosophila)" 1996-07-19 2006-09-26 2010-06-24 2023-01-20 5727 ENSG00000185920 OTTHUMG00000020280 uc004avk.5 AI494442 NM_000264 "CCDS6714|CCDS47995|CCDS47996|CCDS87661|CCDS43851" Q13635 8658145 MGI:105373 RGD:621425 LRG_515|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_515.xml PTCH1 601309 118121 HGNC:9585 "ENST00000331920.11|NM_000264.5" HGNC:9585 -HGNC:9586 PTCH2 patched 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "patched (Drosophila) homolog 2|patched homolog 2 (Drosophila)" 1998-10-19 2010-06-24 2023-01-20 8643 ENSG00000117425 OTTHUMG00000008490 uc010olf.3 AF091501 NM_003738 "CCDS53312|CCDS516" Q9Y6C5 "9811851|9931336" MGI:1095405 RGD:1309039 603673 118126 HGNC:9586 "ENST00000372192.4|NM_003738.5" HGNC:9586 +HGNC:9585 PTCH1 patched 1 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 BCNS "NBCCS|PTCH" "patched (Drosophila) homolog|patched homolog (Drosophila)|patched homolog 1 (Drosophila)" 1996-07-19 2006-09-26 2010-06-24 2023-01-20 5727 ENSG00000185920 OTTHUMG00000020280 uc004avk.5 AI494442 NM_000264 "CCDS43851|CCDS87661|CCDS47995|CCDS47996|CCDS6714" Q13635 8658145 MGI:105373 RGD:621425 LRG_515|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_515.xml PTCH1 601309 118121 HGNC:9585 "ENST00000331920.11|NM_000264.5" HGNC:9585 +HGNC:9586 PTCH2 patched 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "patched (Drosophila) homolog 2|patched homolog 2 (Drosophila)" 1998-10-19 2010-06-24 2023-01-20 8643 ENSG00000117425 OTTHUMG00000008490 uc010olf.3 AF091501 NM_003738 "CCDS516|CCDS53312" Q9Y6C5 "9811851|9931336" MGI:1095405 RGD:1309039 603673 118126 HGNC:9586 "ENST00000372192.4|NM_003738.5" HGNC:9586 HGNC:26392 PTCHD1 patched domain containing 1 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 FLJ30296 2004-09-02 2023-01-20 139411 ENSG00000165186 OTTHUMG00000021251 uc004dal.5 AK054858 NM_173495 CCDS35215 Q96NR3 MGI:2685233 RGD:1564527 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PTCHD1 300828 401078 HGNC:26392 "ENST00000379361.5|NM_173495.3" HGNC:26392 HGNC:37703 PTCHD1-AS PTCHD1 antisense RNA (head to head) non-coding RNA RNA, long non-coding Approved Xp22.11 Xp22.11 "PTCHD1AS1|PTCHD1AS2|DDX53-AS1" DDX53 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2014-04-15 2020-04-20 100873065 ENSG00000233067 OTTHUMG00000021249 "DA355362|BX115199" NR_073010 PTCHD1-AS HGNC:37703 HGNC:24776 PTCHD3 patched domain containing 3 (gene/pseudogene) protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "FLJ44037|PTR" patched domain containing 3 2005-05-24 2021-10-28 2023-03-15 374308 ENSG00000182077 OTTHUMG00000017860 uc001itu.3 AK126025 NM_001034842 Q3KNS1 MGI:1921925 RGD:1590039 611791 HGNC:24776 HGNC:44945 PTCHD3P1 patched domain containing 3 pseudogene 1 pseudogene pseudogene Approved 10p11.23 10p11.23 2012-12-19 2014-08-07 387647 ENSG00000274985 OTTHUMG00000187781 NG_034006 PGOHUM00000238383 HGNC:44945 HGNC:44946 PTCHD3P2 patched domain containing 3 pseudogene 2 pseudogene pseudogene Approved 2q31.1 02q31.1 2012-12-19 2012-12-19 100533664 ENSG00000231550 OTTHUMG00000154119 NG_028775 PGOHUM00000240419 HGNC:44946 HGNC:44947 PTCHD3P3 patched domain containing 3 pseudogene 3 pseudogene pseudogene Approved 6q21 06q21 2012-12-19 2012-12-19 2014-02-12 100533665 ENSG00000219700 OTTHUMG00000015341 NG_028811 PGOHUM00000243323 HGNC:44947 -HGNC:21345 PTCHD4 patched domain containing 4 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "dJ402H5.2|FLJ41841|PTCH53" C6orf138 chromosome 6 open reading frame 138 2003-11-26 2012-02-06 2012-02-06 2023-03-15 442213 ENSG00000244694 OTTHUMG00000150404 uc011dwm.2 NM_001013732 "CCDS93929|CCDS93930" Q6ZW05 25296753 MGI:1920485 RGD:1563020 616908 HGNC:21345 "ENST00000339488.9|NM_001384253.1" -HGNC:21290 PTCRA pre T cell antigen receptor alpha protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "PTA|PT-ALPHA" pre T-cell antigen receptor alpha 2003-06-02 2017-12-06 2023-01-20 171558 ENSG00000171611 OTTHUMG00000014709 uc003osx.4 AF084941 NM_138296 "CCDS4874|CCDS75457|CCDS59019|CCDS59020" Q6ISU1 "8618853|9842925" MGI:104857 RGD:621388 606817 HGNC:21290 "ENST00000304672.6|NM_138296.3" +HGNC:21345 PTCHD4 patched domain containing 4 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "dJ402H5.2|FLJ41841|PTCH53" C6orf138 chromosome 6 open reading frame 138 2003-11-26 2012-02-06 2012-02-06 2023-03-15 442213 ENSG00000244694 OTTHUMG00000150404 uc011dwm.2 NM_001013732 "CCDS93930|CCDS93929" Q6ZW05 25296753 MGI:1920485 RGD:1563020 616908 HGNC:21345 "ENST00000339488.9|NM_001384253.1" +HGNC:21290 PTCRA pre T cell antigen receptor alpha protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "PTA|PT-ALPHA" pre T-cell antigen receptor alpha 2003-06-02 2017-12-06 2023-01-20 171558 ENSG00000171611 OTTHUMG00000014709 uc003osx.4 AF084941 NM_138296 "CCDS4874|CCDS59020|CCDS59019|CCDS75457" Q6ISU1 "8618853|9842925" MGI:104857 RGD:621388 606817 HGNC:21290 "ENST00000304672.6|NM_138296.3" HGNC:37127 PTCSC1 papillary thyroid carcinoma susceptibility candidate 1 non-coding RNA RNA, long non-coding Approved 8q24 08q24 "AK023948|NCRNA00197" non-protein coding RNA 197 PTCSC "papillary thyroid carcinoma susceptibility candidate (non-protein coding)|papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2009-07-16 2012-06-18 2018-05-16 2018-05-16 100302522 AK023948 NR_146773 "19147577|28176758" 617440 AK023948 HGNC:37127 HGNC:44086 PTCSC2 papillary thyroid carcinoma susceptibility candidate 2 non-coding RNA RNA, long non-coding Approved 9q22.33 09q22.33 papillary thyroid carcinoma susceptibility candidate 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-10-15 2018-05-16 2018-09-07 101928337 ENSG00000236130 OTTHUMG00000020335 "HG502283|BE073442" NR_147055 "23408906|25303483" PTCSC2 HGNC:44086 HGNC:43959 PTCSC3 papillary thyroid carcinoma susceptibility candidate 3 non-coding RNA RNA, long non-coding Approved 14q13.3 14q13.3 papillary thyroid carcinoma susceptibility candidate 3 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2012-05-11 2018-05-16 2018-07-05 100886964 ENSG00000259104 OTTHUMG00000170617 uc031qoh.3 "JN689234|CB987890" NR_049735 "22586128|26274343|29561707" 614821 ptcsc3 PTCSC3 HGNC:43959 @@ -27172,14 +27175,14 @@ HGNC:15463 PTDSS2 phosphatidylserine synthase 2 protein-coding gene gene with pr HGNC:9588 PTEN phosphatase and tensin homolog protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "MMAC1|TEP1|PTEN1" mutated in multiple advanced cancers 1 "BZS|MHAM" "C2 tensin-type domain containing|PTEN protein phosphatases|Phosphoinositide phosphatases" "837|902|1079" 1997-04-21 2008-07-31 2023-01-20 5728 ENSG00000171862 OTTHUMG00000018688 uc001kfb.4 U92436 NM_000314 CCDS31238 P60484 9090379 MGI:109583 RGD:61995 LRG_311|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_311.xml PTEN 601728 118128 objectId:2497 "3.1.3.16|3.1.3.48|3.1.3.67" HGNC:9588 "ENST00000371953.8|NM_000314.8" HGNC:9588 HGNC:9589 PTENP1 phosphatase and tensin homolog pseudogene 1 pseudogene pseudogene Approved 9p13.3 09p13.3 "PTEN2|psiPTEN|PTH2|PTEN-rs|PTENpg1" phosphatase and tensin homolog pseudogene 1 (functional) 1999-09-09 2016-01-29 2016-11-30 11191 ENSG00000237984 OTTHUMG00000000410 "AF023139|BC038293|BY797336" NR_023917 "9393738|9620558|20577206" 613531 PTENP1 HGNC:9589 HGNC:48773 PTENP1-AS PTENP1 antisense RNA non-coding RNA RNA, long non-coding Approved 9p13.3 09p13.3 PTENpg1-asRNA Antisense RNAs 1987 2013-06-10 2018-09-07 101243555 ENSG00000281128 OTTHUMG00000189560 BX374997 NR_103745 23435381 ptenp1asrnas HGNC:48773 -HGNC:9590 PTER phosphotriesterase related protein-coding gene gene with protein product Approved 10p13 10p13 1999-06-11 2023-01-20 9317 ENSG00000165983 OTTHUMG00000017737 uc001ioh.3 BC015092 NM_030664 "CCDS58070|CCDS7111|CCDS73070" Q96BW5 9925913 MGI:107372 RGD:61313 604446 HGNC:9590 "ENST00000535784.7|NM_001261836.2" +HGNC:9590 PTER phosphotriesterase related protein-coding gene gene with protein product Approved 10p13 10p13 1999-06-11 2023-01-20 9317 ENSG00000165983 OTTHUMG00000017737 uc001ioh.3 BC015092 NM_030664 "CCDS73070|CCDS7111|CCDS58070" Q96BW5 9925913 MGI:107372 RGD:61313 604446 HGNC:9590 "ENST00000535784.7|NM_001261836.2" HGNC:23734 PTF1A pancreas associated transcription factor 1a protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "PTF1-p48|bHLHa29|p48" pancreas specific transcription factor, 1a "Basic helix-loop-helix proteins|PTF1 complex" "420|1608" 2003-12-04 2018-02-19 2023-01-20 256297 ENSG00000168267 OTTHUMG00000017815 uc001irp.4 BK000272 NM_178161 CCDS7143 Q7RTS3 8703005 MGI:1328312 RGD:621709 607194 118135 HGNC:23734 "ENST00000376504.4|NM_178161.3" HGNC:23734 -HGNC:9591 PTGDR prostaglandin D2 receptor protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "DP|DP1|PTGDR1" Prostaglandin receptors 207 1995-11-09 2016-07-01 2023-01-20 5729 ENSG00000168229 OTTHUMG00000140299 uc001wzq.3 U31332 NM_000953 "CCDS9707|CCDS61454" Q13258 7642548 MGI:102966 RGD:619707 604687 objectId:338 HGNC:9591 "ENST00000306051.3|NM_000953.3" +HGNC:9591 PTGDR prostaglandin D2 receptor protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "DP|DP1|PTGDR1" Prostaglandin receptors 207 1995-11-09 2016-07-01 2023-01-20 5729 ENSG00000168229 OTTHUMG00000140299 uc001wzq.3 U31332 NM_000953 "CCDS61454|CCDS9707" Q13258 7642548 MGI:102966 RGD:619707 604687 objectId:338 HGNC:9591 "ENST00000306051.3|NM_000953.3" HGNC:4502 PTGDR2 prostaglandin D2 receptor 2 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "CRTH2|CD294|DP2" chemoattractant receptor homologous molecule expressed on T helper type 2 cells GPR44 G protein-coupled receptor 44 "Prostaglandin receptors|CD molecules" "207|471" 1999-03-12 2011-11-11 2011-11-11 2023-01-20 11251 ENSG00000183134 OTTHUMG00000167796 uc001nqc.3 AF118265 NM_004778 CCDS7994 Q9Y5Y4 10036181 MGI:1330275 RGD:1311986 604837 objectId:339 CD294 HGNC:4502 "ENST00000332539.5|NM_004778.3" HGNC:9592 PTGDS prostaglandin D2 synthase protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "PGDS|L-PGDS" lipocalin-type prostaglandin D synthase "prostaglandin D2 synthase (21kD, brain)|prostaglandin D2 synthase 21kDa (brain)" Lipocalins 631 1993-07-13 2015-11-16 2023-01-20 5730 ENSG00000107317 OTTHUMG00000020957 uc004cke.4 AA621632 NM_000954 CCDS7019 P41222 1902577 MGI:99261 RGD:3433 176803 objectId:1380 5.3.99.2 HGNC:9592 "ENST00000371625.8|NM_000954.6" HGNC:9593 PTGER1 prostaglandin E receptor 1 protein-coding gene gene with protein product Approved 19p13.1 19p13.1 EP1 "prostaglandin E receptor 1 (subtype EP1), 42kD|prostaglandin E receptor 1 (subtype EP1), 42kDa" Prostaglandin receptors 207 1994-07-29 2015-11-09 2023-01-20 5731 ENSG00000160951 OTTHUMG00000039610 uc002mys.3 NM_000955 P34995 8253813 MGI:97793 RGD:3434 176802 objectId:340 HGNC:9593 "ENST00000292513.4|NM_000955.3" HGNC:9594 PTGER2 prostaglandin E receptor 2 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 EP2 "prostaglandin E receptor 2 (subtype EP2), 53kD|prostaglandin E receptor 2 (subtype EP2), 53kDa" Prostaglandin receptors 207 1994-07-29 2015-11-09 2023-01-20 5732 ENSG00000125384 OTTHUMG00000140300 uc001wzr.4 NM_000956 CCDS9708 P43116 "8250933|7759114" MGI:97794 RGD:620020 176804 objectId:341 HGNC:9594 "ENST00000245457.6|NM_000956.4" -HGNC:9595 PTGER3 prostaglandin E receptor 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "EP3|lnc003875" prostaglandin E receptor 3 (subtype EP3) Prostaglandin receptors 207 1994-07-29 2015-11-16 2023-03-15 5733 ENSG00000050628 OTTHUMG00000009399 uc001dfo.4 X83863 NM_000957 "CCDS652|CCDS44160|CCDS657|CCDS658|CCDS655|CCDS656" P43115 "7759114|9073510" MGI:97795 RGD:3435 176806 objectId:342 HGNC:9595 "ENST00000306666.10|NM_198719.2" +HGNC:9595 PTGER3 prostaglandin E receptor 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "EP3|lnc003875" prostaglandin E receptor 3 (subtype EP3) Prostaglandin receptors 207 1994-07-29 2015-11-16 2023-03-15 5733 ENSG00000050628 OTTHUMG00000009399 uc001dfo.4 X83863 NM_000957 "CCDS656|CCDS657|CCDS655|CCDS658|CCDS44160|CCDS652" P43115 "7759114|9073510" MGI:97795 RGD:3435 176806 objectId:342 HGNC:9595 "ENST00000306666.10|NM_198719.2" HGNC:9596 PTGER4 prostaglandin E receptor 4 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 EP4 prostaglandin E receptor 4 (subtype EP4) Prostaglandin receptors 207 1995-09-26 2015-11-16 2023-01-20 5734 ENSG00000171522 OTTHUMG00000094769 uc003jlz.5 L28175 NM_000958 CCDS3930 P35408 "7759114|8661119" MGI:104311 RGD:628641 601586 objectId:343 HGNC:9596 "ENST00000302472.4|NM_000958.3" HGNC:9597 PTGER4P1 prostaglandin E receptor 4 pseudogene 1 pseudogene pseudogene Approved 9p11.2 09p11.2 prostaglandin E receptor 4 (subtype EP4) pseudogene 1 1995-09-26 2015-11-16 2015-11-16 5735 NG_032179 PGOHUM00000236545 HGNC:9597 HGNC:9598 PTGER4P2 prostaglandin E receptor 4 pseudogene 2 pseudogene pseudogene Approved 9q21.1 09q21.1 prostaglandin E receptor 4 (subtype EP4) pseudogene 2 1995-09-26 2015-11-16 2015-11-16 5736 ENSG00000184523 OTTHUMG00000058168 NG_046646 HGNC:9598 @@ -27188,8 +27191,8 @@ HGNC:38498 PTGER4P3 prostaglandin E receptor 4 pseudogene 3 pseudogene pseudogen HGNC:9599 PTGES prostaglandin E synthase protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "MGST-IV|PIG12|MGST1-L1|TP53I12" "microsomal glutathione S-transferase 1-like 1|tumor protein p53 inducible protein 12|p53-induced gene 12|microsomal prostaglandin E synthase-1|glutathione S-transferase 1-like 1|MGST1-like 1" MGST1L1 1999-05-06 2023-03-15 9536 ENSG00000148344 OTTHUMG00000020791 uc004byi.4 AF010316 NM_004878 CCDS6927 O14684 "9305847|10091672" MGI:1927593 RGD:62076 605172 objectId:1377 HGNC:9599 "ENST00000340607.5|NM_004878.5" HGNC:17822 PTGES2 prostaglandin E synthase 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 FLJ14038 C9orf15 chromosome 9 open reading frame 15 Glutaredoxin domain containing 1468 2002-01-29 2002-06-14 2002-06-13 2023-03-15 80142 ENSG00000148334 OTTHUMG00000020730 uc004bti.4 AK024100 NM_001256335 CCDS6891 Q9H7Z7 11866447 MGI:1917592 RGD:1310836 608152 objectId:1378 HGNC:17822 "ENST00000338961.11|NM_025072.7" HGNC:48711 PTGES2-AS1 PTGES2 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Antisense RNAs 1987 2013-06-07 2013-06-07 389791 OTTHUMG00000187229 "BC141829|BC151210" NR_024425 HGNC:48711 -HGNC:16049 PTGES3 prostaglandin E synthase 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "p23|TEBP|cPGES" prostaglandin E synthase 3 (cytosolic) 2005-06-28 2015-12-04 2023-01-20 10728 ENSG00000110958 OTTHUMG00000170217 uc001slu.6 BC003005 NM_006601 "CCDS61159|CCDS73485|CCDS31836|CCDS61158|CCDS61160" Q15185 "8114727|12077419" MGI:1929282 RGD:1561913 607061 objectId:1379 HGNC:16049 "ENST00000262033.11|NM_006601.7" -HGNC:43943 PTGES3L prostaglandin E synthase 3 like protein-coding gene gene with protein product Approved 17q21.31 17q21.31 prostaglandin E synthase 3 (cytosolic)-like 2012-05-15 2016-06-27 2023-01-20 100885848 ENSG00000267060 OTTHUMG00000180906 uc060fqh.1 NM_001142653 "CCDS45693|CCDS45692|CCDS92328" E9PB15 MGI:1916146 RGD:9413039 HGNC:43943 "ENST00000591916.7|NM_001261430.2" +HGNC:16049 PTGES3 prostaglandin E synthase 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "p23|TEBP|cPGES" prostaglandin E synthase 3 (cytosolic) 2005-06-28 2015-12-04 2023-01-20 10728 ENSG00000110958 OTTHUMG00000170217 uc001slu.6 BC003005 NM_006601 "CCDS61158|CCDS31836|CCDS73485|CCDS61159|CCDS61160" Q15185 "8114727|12077419" MGI:1929282 RGD:1561913 607061 objectId:1379 HGNC:16049 "ENST00000262033.11|NM_006601.7" +HGNC:43943 PTGES3L prostaglandin E synthase 3 like protein-coding gene gene with protein product Approved 17q21.31 17q21.31 prostaglandin E synthase 3 (cytosolic)-like 2012-05-15 2016-06-27 2023-01-20 100885848 ENSG00000267060 OTTHUMG00000180906 uc060fqh.1 NM_001142653 "CCDS92328|CCDS45693|CCDS45692" E9PB15 MGI:1916146 RGD:9413039 HGNC:43943 "ENST00000591916.7|NM_001261430.2" HGNC:43946 PTGES3L-AARSD1 PTGES3L-AARSD1 readthrough other readthrough Approved 17q21.31 17q21.31 2012-05-15 2023-03-15 100885850 ENSG00000108825 OTTHUMG00000180905 uc010whg.3 NM_025267 Q9BTE6 MGI:1916934 HGNC:43946 HGNC:43824 PTGES3P1 prostaglandin E synthase 3 pseudogene 1 pseudogene pseudogene Approved 1p22.2 01p22.2 prostaglandin E synthase 3 (cytosolic) pseudogene 1 2012-03-14 2016-06-27 2016-06-27 284672 ENSG00000234518 OTTHUMG00000010660 NG_007034 HGNC:43824 HGNC:43822 PTGES3P2 prostaglandin E synthase 3 pseudogene 2 pseudogene pseudogene Approved 2p23.3 02p23.3 prostaglandin E synthase 3 (cytosolic) pseudogene 2 2012-03-14 2016-06-27 2016-06-27 101929293 ENSG00000217643 OTTHUMG00000152177 NG_052995 PGOHUM00000240601 HGNC:43822 @@ -27200,21 +27203,21 @@ HGNC:9600 PTGFR prostaglandin F receptor protein-coding gene gene with protein p HGNC:9601 PTGFRN prostaglandin F2 receptor inhibitor protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "FPRP|EWI-F|CD9P-1|FLJ11001|KIAA1436|SMAP-6|CD315" prostaglandin F2 receptor negative regulator "CD molecules|V-set domain containing" "471|590" 1997-10-31 2013-01-25 2023-01-20 5738 ENSG00000134247 OTTHUMG00000012028 uc001egv.2 AB014734 NM_020440 CCDS890 Q9P2B2 8655148 MGI:1277114 RGD:3437 601204 CD315 HGNC:9601 "ENST00000393203.3|NM_020440.4" HGNC:9602 PTGIR prostaglandin I2 receptor protein-coding gene gene with protein product Approved 19q13.32 19q13.32 IP prostacyclin receptor prostaglandin I2 (prostacyclin) receptor (IP) Prostaglandin receptors 207 1994-07-29 2017-08-08 2023-01-20 5739 ENSG00000160013 OTTHUMG00000183429 uc002pex.4 NM_000960 CCDS12686 P43119 7759114 MGI:99535 RGD:1310890 600022 objectId:345 HGNC:9602 "ENST00000291294.7|NM_000960.4" HGNC:9603 PTGIS prostaglandin I2 synthase protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "PGIS|CYP8A1" "cytochrome P450, family 8, subfamily A, polypeptide 1|prostacyclin synthase" prostaglandin I2 (prostacyclin) synthase Cytochrome P450 family 8 1006 1994-07-28 2016-09-12 2023-01-20 5740 ENSG00000124212 OTTHUMG00000033077 uc002xut.4 NM_000961 CCDS13419 Q16647 8812456 MGI:1097156 RGD:3438 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/PTGIS 601699 objectId:1356 5.3.99.4 HGNC:9603 "ENST00000244043.5|NM_000961.4" HGNC:9603 -HGNC:18429 PTGR1 prostaglandin reductase 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 ZADH3 zinc binding alcohol dehydrogenase domain containing 3 LTB4DH leukotriene B4 12-hydroxydehydrogenase 2002-09-19 2008-06-02 2008-06-02 2023-01-20 22949 ENSG00000106853 OTTHUMG00000020493 uc004bfi.3 D49387 NM_001146108 "CCDS6779|CCDS55331" Q14914 "8576264|17449869" MGI:1914353 RGD:621195 601274 "1.3.1.74|1.3.1.48" HGNC:18429 "ENST00000407693.7|NM_001146108.2" -HGNC:20149 PTGR2 prostaglandin reductase 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ39091 ZADH1 zinc binding alcohol dehydrogenase domain containing 1 2002-12-20 2008-06-03 2008-06-02 2023-01-20 145482 ENSG00000140043 OTTHUMG00000171255 uc001xow.5 AK096410 NM_001146154 "CCDS9820|CCDS91902" Q8N8N7 17449869 MGI:1916372 RGD:1310518 608642 HGNC:20149 "ENST00000555661.6|NM_001146154.2" +HGNC:18429 PTGR1 prostaglandin reductase 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 ZADH3 zinc binding alcohol dehydrogenase domain containing 3 LTB4DH leukotriene B4 12-hydroxydehydrogenase 2002-09-19 2008-06-02 2008-06-02 2023-01-20 22949 ENSG00000106853 OTTHUMG00000020493 uc004bfi.3 D49387 NM_001146108 "CCDS55331|CCDS6779" Q14914 "8576264|17449869" MGI:1914353 RGD:621195 601274 "1.3.1.74|1.3.1.48" HGNC:18429 "ENST00000407693.7|NM_001146108.2" +HGNC:20149 PTGR2 prostaglandin reductase 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ39091 ZADH1 zinc binding alcohol dehydrogenase domain containing 1 2002-12-20 2008-06-03 2008-06-02 2023-01-20 145482 ENSG00000140043 OTTHUMG00000171255 uc001xow.5 AK096410 NM_001146154 "CCDS91902|CCDS9820" Q8N8N7 17449869 MGI:1916372 RGD:1310518 608642 HGNC:20149 "ENST00000555661.6|NM_001146154.2" HGNC:28697 PTGR3 prostaglandin reductase 3 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "MGC45594|PTGR-3" prostaglandin reductase-3 ZADH2 zinc binding alcohol dehydrogenase domain containing 2 2004-06-17 2022-02-01 2022-02-01 2023-01-20 284273 ENSG00000180011 OTTHUMG00000132858 uc002llx.4 BC033780 NM_175907 "CCDS12008|CCDS77198" Q8N4Q0 23821743 MGI:2444835 RGD:1309999 HGNC:28697 "ENST00000322342.4|NM_175907.6" -HGNC:9604 PTGS1 prostaglandin-endoperoxide synthase 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "COX1|PGHS-1|PTGHS" cyclooxygenase-1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 1992-10-27 2016-03-24 2023-01-20 5742 ENSG00000095303 OTTHUMG00000020605 uc004bmg.3 M59979 NM_000962 "CCDS59520|CCDS59521|CCDS75895|CCDS6842|CCDS6843" P23219 "2512924|1907252" MGI:97797 RGD:3439 LRG_639|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_639.xml 176805 470922 objectId:1375 1.14.99.1 HGNC:9604 "ENST00000362012.7|NM_000962.4" HGNC:9604 +HGNC:9604 PTGS1 prostaglandin-endoperoxide synthase 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "COX1|PGHS-1|PTGHS" cyclooxygenase-1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 1992-10-27 2016-03-24 2023-01-20 5742 ENSG00000095303 OTTHUMG00000020605 uc004bmg.3 M59979 NM_000962 "CCDS59521|CCDS6843|CCDS59520|CCDS75895|CCDS6842" P23219 "2512924|1907252" MGI:97797 RGD:3439 LRG_639|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_639.xml 176805 470922 objectId:1375 1.14.99.1 HGNC:9604 "ENST00000362012.7|NM_000962.4" HGNC:9604 HGNC:9605 PTGS2 prostaglandin-endoperoxide synthase 2 protein-coding gene gene with protein product Approved 1q31.1 01q31.1 COX2 "prostaglandin G/H synthase 2|cyclooxygenase 2" prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 1992-10-28 2016-01-25 2023-01-20 5743 ENSG00000073756 OTTHUMG00000035473 uc001gsb.4 D28235 NM_000963 CCDS1371 P35354 1380156 MGI:97798 RGD:620349 600262 470924 objectId:1376 1.14.99.1 HGNC:9605 "ENST00000367468.10|NM_000963.4" HGNC:9606 PTH parathyroid hormone protein-coding gene gene with protein product Approved 11p15.3 11p15.3 PTH1 "parathyrin|parathormone|parathyroid hormone 1|preproparathyroid hormone|prepro-PTH" Receptor ligands 542 2001-06-22 2023-01-20 5741 ENSG00000152266 OTTHUMG00000165785 uc057zha.1 J00301 NM_000315 CCDS7812 P01270 1672845 MGI:97799 RGD:3440 168450 118138 ligandId:1785 HGNC:9606 "ENST00000282091.6|NM_000315.4" HGNC:9606 HGNC:9608 PTH1R parathyroid hormone 1 receptor protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "PTHR|PTHR1" parathyroid hormone receptor 1 Parathyroid hormone receptors 270 1993-03-23 2008-11-18 2008-11-18 2023-01-20 5745 ENSG00000160801 OTTHUMG00000133515 uc003cqm.4 NM_000316 CCDS2747 Q03431 8020952 MGI:97801 RGD:3442 168468 118140 objectId:331 HGNC:9608 "ENST00000449590.6|NM_000316.3" HGNC:9608 HGNC:30828 PTH2 parathyroid hormone 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 TIP39 tuberoinfundibular 39 residues Receptor ligands 542 2007-12-07 2023-01-20 113091 ENSG00000142538 OTTHUMG00000183165 uc002pnn.1 AY037555 NM_178449 CCDS12763 Q96A98 11861531 MGI:2152297 RGD:1559447 608386 ligandId:1815 HGNC:30828 "ENST00000270631.2|NM_178449.4" HGNC:9609 PTH2R parathyroid hormone 2 receptor protein-coding gene gene with protein product Approved 2q34 02q34 PTHR2 parathyroid hormone receptor 2 Parathyroid hormone receptors 270 1996-03-19 2007-08-24 2007-08-24 2023-01-20 5746 ENSG00000144407 OTTHUMG00000132960 uc002vdb.5 BC036811 NM_005048 "CCDS82565|CCDS2383" P49190 MGI:2180917 RGD:620612 601469 470926 objectId:332 HGNC:9609 "ENST00000272847.7|NM_005048.4" -HGNC:9607 PTHLH parathyroid hormone like hormone protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "PTHRP|HHM|PLP|PTHR" "osteostatin|parathyroid hormone-like hormone preproprotein|parathyroid hormone-related protein preproprotein" "Receptor ligands|Neuropeptides" "542|1902" 2001-06-22 2016-07-07 2023-01-20 5744 ENSG00000087494 OTTHUMG00000169221 uc001rin.4 NM_198965 "CCDS44853|CCDS8715" P12272 2708388 MGI:97800 RGD:3441 168470 227063 ligandId:3738 HGNC:9607 "ENST00000545234.6|NM_198965.2" HGNC:9607 -HGNC:9611 PTK2 protein tyrosine kinase 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FAK|FADK|FAK1|PPP1R71" protein phosphatase 1, regulatory subunit 71 PTK2 protein tyrosine kinase 2 "Protein phosphatase 1 regulatory subunits|FERM domain containing|PTK2 family tyrosine kinases|MicroRNA protein coding host genes" "694|1293|1644|1691" 1992-10-02 2013-02-18 2023-01-20 5747 ENSG00000169398 OTTHUMG00000067438 uc003yvu.4 L13616 NM_005607 "CCDS94347|CCDS6381|CCDS94345|CCDS87628|CCDS56557|CCDS94346" Q05397 8422239 MGI:95481 RGD:3443 600758 objectId:2180 2.7.10.1 HGNC:9611 "ENST00000696786.1|NM_001352702.2" +HGNC:9607 PTHLH parathyroid hormone like hormone protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "PTHRP|HHM|PLP|PTHR" "osteostatin|parathyroid hormone-like hormone preproprotein|parathyroid hormone-related protein preproprotein" "Receptor ligands|Neuropeptides" "542|1902" 2001-06-22 2016-07-07 2023-01-20 5744 ENSG00000087494 OTTHUMG00000169221 uc001rin.4 NM_198965 "CCDS8715|CCDS44853" P12272 2708388 MGI:97800 RGD:3441 168470 227063 ligandId:3738 HGNC:9607 "ENST00000545234.6|NM_198965.2" HGNC:9607 +HGNC:9611 PTK2 protein tyrosine kinase 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FAK|FADK|FAK1|PPP1R71" protein phosphatase 1, regulatory subunit 71 PTK2 protein tyrosine kinase 2 "Protein phosphatase 1 regulatory subunits|FERM domain containing|PTK2 family tyrosine kinases|MicroRNA protein coding host genes" "694|1293|1644|1691" 1992-10-02 2013-02-18 2023-01-20 5747 ENSG00000169398 OTTHUMG00000067438 uc003yvu.4 L13616 NM_005607 "CCDS56557|CCDS94347|CCDS94346|CCDS6381|CCDS87628|CCDS94345" Q05397 8422239 MGI:95481 RGD:3443 600758 objectId:2180 2.7.10.1 HGNC:9611 "ENST00000696786.1|NM_001352702.2" HGNC:9612 PTK2B protein tyrosine kinase 2 beta protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "CAKB|PYK2|RAFTK|PTK|CADTK" FAK2 FAK2 "Minor histocompatibility antigens|FERM domain containing|PTK2 family tyrosine kinases|MicroRNA protein coding host genes" "870|1293|1644|1691" 1998-06-22 2013-02-18 2023-01-20 2185 ENSG00000120899 OTTHUMG00000102082 uc003xfn.3 U33284 NM_004103 "CCDS6057|CCDS6058" Q14289 "7544443|7499242" MGI:104908 RGD:628758 601212 objectId:2181 HGNC:9612 "ENST00000346049.10|NM_173176.3" -HGNC:9617 PTK6 protein tyrosine kinase 6 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 BRK PTK6 protein tyrosine kinase 6 "SH2 domain containing|PTK6 family tyrosine kinases" "741|1645" 1992-10-02 2013-02-18 2023-01-20 5753 ENSG00000101213 OTTHUMG00000033039 uc002yfg.5 U61412 NM_001256358 "CCDS13524|CCDS74750" Q13882 "8247543|9284935" MGI:99683 RGD:1309098 PTK6 602004 objectId:2182 2.7.10.1 HGNC:9617 "ENST00000542869.3|NM_005975.4" -HGNC:9618 PTK7 protein tyrosine kinase 7 (inactive) protein-coding gene gene with protein product Approved 6p21.1 06p21.1 CCK4 colon carcinoma kinase 4 "PTK7 protein tyrosine kinase 7|protein tyrosine kinase 7" "Receptor tyrosine kinases|I-set domain containing" "321|593" 1992-10-02 2014-12-19 2023-03-15 5754 ENSG00000112655 OTTHUMG00000014721 uc003oub.3 AF447176 NM_002821 "CCDS4887|CCDS4884|CCDS59021|CCDS4886|CCDS4885" Q13308 7478540 MGI:1918711 RGD:1310472 601890 470928 objectId:1848 2.7.10.1 HGNC:9618 "ENST00000230419.9|NM_002821.5" -HGNC:9623 PTMA prothymosin alpha protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "gene sequence 28|prothymosin-α" TMSA "prothymosin, alpha (gene sequence 28)|prothymosin, alpha" MicroRNA protein coding host genes 1691 1991-07-15 2018-01-23 2023-01-20 5757 ENSG00000187514 OTTHUMG00000153810 uc002vsc.5 NM_001099285 "CCDS42833|CCDS46541" P06454 1612591 MGI:97803 RGD:61829 188390 HGNC:9623 "ENST00000409115.8|NM_002823.5" +HGNC:9617 PTK6 protein tyrosine kinase 6 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 BRK PTK6 protein tyrosine kinase 6 "SH2 domain containing|PTK6 family tyrosine kinases" "741|1645" 1992-10-02 2013-02-18 2023-01-20 5753 ENSG00000101213 OTTHUMG00000033039 uc002yfg.5 U61412 NM_001256358 "CCDS74750|CCDS13524" Q13882 "8247543|9284935" MGI:99683 RGD:1309098 PTK6 602004 objectId:2182 2.7.10.1 HGNC:9617 "ENST00000542869.3|NM_005975.4" +HGNC:9618 PTK7 protein tyrosine kinase 7 (inactive) protein-coding gene gene with protein product Approved 6p21.1 06p21.1 CCK4 colon carcinoma kinase 4 "PTK7 protein tyrosine kinase 7|protein tyrosine kinase 7" "Receptor tyrosine kinases|I-set domain containing" "321|593" 1992-10-02 2014-12-19 2023-03-15 5754 ENSG00000112655 OTTHUMG00000014721 uc003oub.3 AF447176 NM_002821 "CCDS4884|CCDS4887|CCDS4885|CCDS4886|CCDS59021" Q13308 7478540 MGI:1918711 RGD:1310472 601890 470928 objectId:1848 2.7.10.1 HGNC:9618 "ENST00000230419.9|NM_002821.5" +HGNC:9623 PTMA prothymosin alpha protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "gene sequence 28|prothymosin-α" TMSA "prothymosin, alpha (gene sequence 28)|prothymosin, alpha" MicroRNA protein coding host genes 1691 1991-07-15 2018-01-23 2023-01-20 5757 ENSG00000187514 OTTHUMG00000153810 uc002vsc.5 NM_001099285 "CCDS46541|CCDS42833" P06454 1612591 MGI:97803 RGD:61829 188390 HGNC:9623 "ENST00000409115.8|NM_002823.5" HGNC:9624 PTMAP1 prothymosin alpha pseudogene 1 pseudogene pseudogene Approved 6p21.33 06p21.33 Em:AB023049.6 "prothymosin, alpha pseudogene 1 (gene sequence 26)|prothymosin, alpha pseudogene 1" 1991-12-11 2018-01-23 2018-01-23 5758 ENSG00000228415 OTTHUMG00000031235 S41692 NG_004833 1612591 HGNC:9624 HGNC:9625 PTMAP2 prothymosin alpha pseudogene 2 pseudogene pseudogene Approved 5q23.1 05q23.1 "prothymosin, alpha pseudogene 2 (gene sequence 32)|prothymosin, alpha pseudogene 2" 1991-12-11 2018-01-23 2018-01-23 5759 ENSG00000197744 OTTHUMG00000162960 S41694 NG_002765 1612591 HGNC:9625 HGNC:9626 PTMAP3 prothymosin alpha pseudogene 3 pseudogene pseudogene Approved 20p11.23 20p11.23 "prothymosin, alpha pseudogene 3 (gene sequence 34)|prothymosin, alpha pseudogene 3" 1991-12-11 2018-01-23 2018-01-23 5760 ENSG00000218902 OTTHUMG00000031954 S41695 NG_001180 1612591 HGNC:9626 @@ -27230,9 +27233,9 @@ HGNC:53982 PTMAP12 prothymosin alpha pseudogene 12 pseudogene pseudogene Approve HGNC:53983 PTMAP13 prothymosin alpha pseudogene 13 pseudogene pseudogene Approved 17q25.1 17q25.1 2018-08-07 2018-08-07 105371898 NG_061475 HGNC:53983 HGNC:53984 PTMAP14 prothymosin alpha pseudogene 14 pseudogene pseudogene Approved Xp22.2 Xp22.2 2018-08-07 2018-08-07 105373140 NG_061479 HGNC:53984 HGNC:53985 PTMAP15 prothymosin alpha pseudogene 15 pseudogene pseudogene Approved 8q22.3 08q22.3 2018-08-07 2018-08-07 112935968 ENSG00000255105 OTTHUMG00000165288 NG_064183 HGNC:53985 -HGNC:9629 PTMS parathymosin protein-coding gene gene with protein product Approved 12p13.31 12p13.31 ParaT 1990-09-10 2023-01-20 5763 ENSG00000159335 OTTHUMG00000169196 uc001qqq.3 NM_001330333 "CCDS8560|CCDS81656" P20962 15716277 MGI:1916452 RGD:621529 168440 HGNC:9629 "ENST00000309083.8|NM_002824.6" +HGNC:9629 PTMS parathymosin protein-coding gene gene with protein product Approved 12p13.31 12p13.31 ParaT 1990-09-10 2023-01-20 5763 ENSG00000159335 OTTHUMG00000169196 uc001qqq.3 NM_001330333 "CCDS81656|CCDS8560" P20962 15716277 MGI:1916452 RGD:621529 168440 HGNC:9629 "ENST00000309083.8|NM_002824.6" HGNC:9630 PTN pleiotrophin protein-coding gene gene with protein product Approved 7q33 07q33 "HBNF|HBGF8" heparin binding growth factor 8 NEGF1 neurite growth-promoting factor 1 Receptor ligands 542 1993-06-22 2008-07-31 2023-01-20 5764 ENSG00000105894 OTTHUMG00000155709 uc003vtq.4 M57399 NM_002825 "CCDS5844|CCDS94211" P21246 "1457401|1768439" MGI:97804 RGD:3444 162095 ligandId:6618 HGNC:9630 "ENST00000348225.7|NM_002825.7" -HGNC:9632 PTOV1 PTOV1 extended AT-hook containing adaptor protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 prostate tumor overexpressed 1 MicroRNA protein coding host genes 1691 2000-05-18 2019-01-21 2023-01-20 53635 ENSG00000104960 OTTHUMG00000183162 uc002pqf.2 AF238381 NM_017432 "CCDS12782|CCDS82379|CCDS92668" Q86YD1 "12598323|15713644|26156556" MGI:1933946 RGD:1306977 610195 HGNC:9632 +HGNC:9632 PTOV1 PTOV1 extended AT-hook containing adaptor protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 prostate tumor overexpressed 1 MicroRNA protein coding host genes 1691 2000-05-18 2019-01-21 2023-01-20 53635 ENSG00000104960 OTTHUMG00000183162 uc002pqf.2 AF238381 NM_017432 "CCDS82379|CCDS12782|CCDS92668" Q86YD1 "12598323|15713644|26156556" MGI:1933946 RGD:1306977 610195 HGNC:9632 HGNC:44174 PTOV1-AS1 PTOV1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 PTOV1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2020-10-09 100506033 ENSG00000268006 OTTHUMG00000183257 uc002ppy.5 BC043359 NR_040037 PTOV1-AS1 HGNC:44174 HGNC:51284 PTOV1-AS2 PTOV1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 Antisense RNAs 1987 2014-08-28 2015-01-08 101928378 ENSG00000269352 OTTHUMG00000183259 NR_110730 PTOV1-AS2 HGNC:51284 HGNC:56490 PTOV1P1 PTOV1 pseudogene 1 pseudogene pseudogene Approved 3q13.33 03q13.33 2022-10-20 2022-10-20 442087 ENSG00000240882 NG_022266 PGOHUM00000299546 @@ -27244,24 +27247,24 @@ HGNC:41931 PTP4A1P4 PTP4A1 pseudogene 4 pseudogene pseudogene Approved 5q14.3 05 HGNC:41932 PTP4A1P5 PTP4A1 pseudogene 5 pseudogene pseudogene Approved Xp21.3 Xp21.3 protein tyrosine phosphatase type IVA, member 1 pseudogene 5 2011-05-19 2019-02-14 2019-02-14 100289380 ENSG00000235642 OTTHUMG00000021299 NG_022587 PGOHUM00000241217 HGNC:41932 HGNC:41933 PTP4A1P6 PTP4A1 pseudogene 6 pseudogene pseudogene Approved 11q14.2 11q14.2 protein tyrosine phosphatase type IVA, member 1 pseudogene 6 2011-05-19 2019-02-14 2019-02-14 100129472 ENSG00000254727 OTTHUMG00000167215 NG_028980 PGOHUM00000242835 HGNC:41933 HGNC:41934 PTP4A1P7 PTP4A1 pseudogene 7 pseudogene pseudogene Approved 1q25.2 01q25.2 protein tyrosine phosphatase type IVA, member 1 pseudogene 7 2011-05-19 2019-02-14 2019-02-14 100421681 ENSG00000237514 OTTHUMG00000035043 NG_023390 PGOHUM00000244350 HGNC:41934 -HGNC:9635 PTP4A2 protein tyrosine phosphatase 4A2 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "HU-PP-1|PTPCAAX2|OV-1|ptp-IV1a|PRL-2|PRL2" phosphatase of regenerating liver 2 PTP4A protein tyrosine phosphatase type IVA, member 2 Protein tyrosine phosphatase 4A family 899 1996-03-14 2019-02-14 2023-03-15 8073 ENSG00000184007 OTTHUMG00000003801 uc001bty.2 L48723 NM_080391 "CCDS348|CCDS53292|CCDS59193" Q12974 "8661118|9514946" MGI:1277117 RGD:619786 601584 HGNC:9635 "ENST00000647444.2|NM_080391.4" +HGNC:9635 PTP4A2 protein tyrosine phosphatase 4A2 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "HU-PP-1|PTPCAAX2|OV-1|ptp-IV1a|PRL-2|PRL2" phosphatase of regenerating liver 2 PTP4A protein tyrosine phosphatase type IVA, member 2 Protein tyrosine phosphatase 4A family 899 1996-03-14 2019-02-14 2023-03-15 8073 ENSG00000184007 OTTHUMG00000003801 uc001bty.2 L48723 NM_080391 "CCDS348|CCDS59193|CCDS53292" Q12974 "8661118|9514946" MGI:1277117 RGD:619786 601584 HGNC:9635 "ENST00000647444.2|NM_080391.4" HGNC:9637 PTP4A2P1 PTP4A2 pseudogene 1 pseudogene pseudogene Approved 17q21.2 17q21.2 h-PRL-1 PTP4AP1 "protein tyrosine phosphatase type IVA pseudogene 1|protein tyrosine phosphatase type IVA, member 2 pseudogene 1" 1996-03-14 2009-12-03 2019-02-14 2019-02-14 5767 ENSG00000267185 OTTHUMG00000180239 NG_004085 "8661118|8931711" PGOHUM00000294439 HGNC:9637 HGNC:9638 PTP4A2P2 PTP4A2 pseudogene 2 pseudogene pseudogene Approved 11q25 11q25 PTP4AP2 "protein tyrosine phosphatase type IVA pseudogene 2|protein tyrosine phosphatase type IVA, member 2 pseudogene 2" 1996-03-14 2009-12-03 2019-02-14 2019-02-14 5769 ENSG00000254481 OTTHUMG00000167127 L48937 NG_001182 "8661118|8931711" PGOHUM00000290767 HGNC:9638 -HGNC:9636 PTP4A3 protein tyrosine phosphatase 4A3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "PRL-3|PRL-R|PRL3" phosphatase of regenerating liver 3 protein tyrosine phosphatase type IVA, member 3 Protein tyrosine phosphatase 4A family 899 1999-09-09 2019-02-14 2023-01-20 11156 ENSG00000184489 OTTHUMG00000164490 uc010mes.5 AF041434 NM_032611 "CCDS6383|CCDS6382" O75365 MGI:1277098 RGD:1308687 606449 objectId:3224 HGNC:9636 "ENST00000521578.6|NM_032611.3" -HGNC:9308 PTPA protein phosphatase 2 phosphatase activator protein-coding gene gene with protein product Approved 9q34.11 09q34.11 PR53 "phosphotyrosyl phosphatase activator|PP2A phosphatase activator" PPP2R4 "protein phosphatase 2A, regulatory subunit B' (PR 53)|protein phosphatase 2A activator, regulatory subunit 4|protein phosphatase 2 regulatory subunit 4" "Cyclophilin peptidylprolyl isomerases|Protein phosphatase 2 modulatory subunits" "909|1265" 1994-06-09 2016-05-27 2016-05-27 2023-03-15 5524 ENSG00000119383 OTTHUMG00000020774 uc004bxl.3 X73478 NM_021131 "CCDS75917|CCDS6920|CCDS65156" Q15257 "8530035|16380387" MGI:1346006 RGD:1308354 600756 HGNC:9308 "ENST00000393370.7|NM_178000.3" +HGNC:9636 PTP4A3 protein tyrosine phosphatase 4A3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "PRL-3|PRL-R|PRL3" phosphatase of regenerating liver 3 protein tyrosine phosphatase type IVA, member 3 Protein tyrosine phosphatase 4A family 899 1999-09-09 2019-02-14 2023-01-20 11156 ENSG00000184489 OTTHUMG00000164490 uc010mes.5 AF041434 NM_032611 "CCDS6382|CCDS6383" O75365 MGI:1277098 RGD:1308687 606449 objectId:3224 HGNC:9636 "ENST00000521578.6|NM_032611.3" +HGNC:9308 PTPA protein phosphatase 2 phosphatase activator protein-coding gene gene with protein product Approved 9q34.11 09q34.11 PR53 "phosphotyrosyl phosphatase activator|PP2A phosphatase activator" PPP2R4 "protein phosphatase 2A, regulatory subunit B' (PR 53)|protein phosphatase 2A activator, regulatory subunit 4|protein phosphatase 2 regulatory subunit 4" "Cyclophilin peptidylprolyl isomerases|Protein phosphatase 2 modulatory subunits" "909|1265" 1994-06-09 2016-05-27 2016-05-27 2023-03-15 5524 ENSG00000119383 OTTHUMG00000020774 uc004bxl.3 X73478 NM_021131 "CCDS6920|CCDS65156|CCDS75917" Q15257 "8530035|16380387" MGI:1346006 RGD:1308354 600756 HGNC:9308 "ENST00000393370.7|NM_178000.3" HGNC:30184 PTPDC1 protein tyrosine phosphatase domain containing 1 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "PTP9Q22|FLJ37312" protein tyrosine phosphatase PTP9Q22 CDC14 phosphatases 900 2004-04-22 2023-01-20 138639 ENSG00000158079 OTTHUMG00000020258 uc010mrj.3 BC051654 "NM_177995|NM_152422" "CCDS75860|CCDS6708|CCDS6707" A2A3K4 14702039 MGI:2145430 RGD:1307698 HGNC:30184 "ENST00000620992.5|NM_001253829.2" -HGNC:26965 PTPMT1 protein tyrosine phosphatase mitochondrial 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "PLIP|DUSP23|MOSP" "PTEN-like phosphatase|phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1" "Atypical dual specificity phosphatases|Phosphoinositide phosphatases" "896|1079" 2005-03-15 2019-02-14 2023-01-20 114971 ENSG00000110536 OTTHUMG00000166892 uc001nfs.5 BC014048 NM_175732 "CCDS41643|CCDS44593" Q8WUK0 21730175 MGI:1913711 RGD:1589783 609538 "3.1.3.16|3.1.3.27|3.1.3.48" HGNC:26965 "ENST00000326674.10|NM_175732.3" -HGNC:9642 PTPN1 protein tyrosine phosphatase non-receptor type 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 PTP1B Protein tyrosine phosphatases non-receptor type 812 1991-09-13 2019-02-14 2023-01-20 5770 ENSG00000196396 OTTHUMG00000032729 uc002xvl.5 NM_001278618 "CCDS63309|CCDS13430" P18031 2164224 MGI:97805 RGD:61965 176885 objectId:2976 HGNC:9642 "ENST00000371621.5|NM_002827.4" -HGNC:9650 PTPN2 protein tyrosine phosphatase non-receptor type 2 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "TCELLPTP|TC-PTP|TCPTP" PTPT Protein tyrosine phosphatases non-receptor type 812 1991-09-13 2019-02-14 2023-01-20 5771 ENSG00000175354 OTTHUMG00000131702 uc002krp.4 M25393 "NM_002828|NM_080422|NM_080423" "CCDS11864|CCDS59306|CCDS11865|CCDS11863|CCDS77155" P17706 2164224 MGI:97806 RGD:620710 176887 306416 HGNC:9650 "ENST00000309660.10|NM_002828.4" +HGNC:26965 PTPMT1 protein tyrosine phosphatase mitochondrial 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "PLIP|DUSP23|MOSP" "PTEN-like phosphatase|phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1" "Atypical dual specificity phosphatases|Phosphoinositide phosphatases" "896|1079" 2005-03-15 2019-02-14 2023-01-20 114971 ENSG00000110536 OTTHUMG00000166892 uc001nfs.5 BC014048 NM_175732 "CCDS44593|CCDS41643" Q8WUK0 21730175 MGI:1913711 RGD:1589783 609538 "3.1.3.16|3.1.3.27|3.1.3.48" HGNC:26965 "ENST00000326674.10|NM_175732.3" +HGNC:9642 PTPN1 protein tyrosine phosphatase non-receptor type 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 PTP1B Protein tyrosine phosphatases non-receptor type 812 1991-09-13 2019-02-14 2023-01-20 5770 ENSG00000196396 OTTHUMG00000032729 uc002xvl.5 NM_001278618 "CCDS13430|CCDS63309" P18031 2164224 MGI:97805 RGD:61965 176885 objectId:2976 HGNC:9642 "ENST00000371621.5|NM_002827.4" +HGNC:9650 PTPN2 protein tyrosine phosphatase non-receptor type 2 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "TCELLPTP|TC-PTP|TCPTP" PTPT Protein tyrosine phosphatases non-receptor type 812 1991-09-13 2019-02-14 2023-01-20 5771 ENSG00000175354 OTTHUMG00000131702 uc002krp.4 M25393 "NM_002828|NM_080422|NM_080423" "CCDS11864|CCDS59306|CCDS77155|CCDS11863|CCDS11865" P17706 2164224 MGI:97806 RGD:620710 176887 306416 HGNC:9650 "ENST00000309660.10|NM_002828.4" HGNC:9653 PTPN2P1 PTPN2 pseudogene 1 pseudogene pseudogene Approved 1q25.2 01q25.2 "PTPN2P|PTPTP1" "protein tyrosine phosphatase, non-receptor type 2 (pseudogene 1)|protein tyrosine phosphatase, non-receptor type 2 pseudogene 1" 1991-09-13 2019-02-14 2020-04-20 646981 ENSG00000228196 OTTHUMG00000035074 NG_006956 8325634 PGOHUM00000244353 HGNC:9653 HGNC:9654 PTPN2P2 PTPN2 pseudogene 2 pseudogene pseudogene Approved 13q12.3 13q12.3 "protein tyrosine phosphatase, non-receptor type 2 (pseudogene 2)|protein tyrosine phosphatase, non-receptor type 2 pseudogene 2" 1993-03-03 2019-02-14 2020-04-20 646758 ENSG00000224117 OTTHUMG00000016674 NG_011398 8325634 PGOHUM00000248558 HGNC:9654 HGNC:9655 PTPN3 protein tyrosine phosphatase non-receptor type 3 protein-coding gene gene with protein product Approved 9q31 09q31 PTPH1 "Protein tyrosine phosphatases non-receptor type|PDZ domain containing|FERM domain containing|MicroRNA protein coding host genes" "812|1220|1293|1691" 1992-02-12 2019-02-14 2023-01-20 5774 ENSG00000070159 OTTHUMG00000020475 uc004bed.3 NM_001145368 P26045 1648725 MGI:105307 RGD:1311363 176877 402744 HGNC:9655 "ENST00000374541.4|NM_002829.4" HGNC:9655 HGNC:9656 PTPN4 protein tyrosine phosphatase non-receptor type 4 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 PTPMEG protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) "Protein tyrosine phosphatases non-receptor type|PDZ domain containing|FERM domain containing" "812|1220|1293" 1992-02-12 2019-02-14 2023-01-20 5775 ENSG00000088179 OTTHUMG00000131436 uc002tmf.3 NM_002830 CCDS2129 P29074 1648233 MGI:1099792 RGD:620712 176878 HGNC:9656 "ENST00000263708.7|NM_002830.4" -HGNC:9657 PTPN5 protein tyrosine phosphatase non-receptor type 5 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "STEP|PTPSTEP|STEP61" striatal-enriched protein tyrosine phosphatase protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) Protein tyrosine phosphatases non-receptor type 812 1992-02-12 2019-02-14 2023-01-20 84867 ENSG00000110786 OTTHUMG00000134304 uc001mpd.5 BC064807 NM_001039970 "CCDS41626|CCDS7845|CCDS60746" P54829 1714595 MGI:97807 RGD:3448 176879 HGNC:9657 "ENST00000358540.7|NM_006906.2" -HGNC:9658 PTPN6 protein tyrosine phosphatase non-receptor type 6 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HCP|HCPH|PTP-1C|SHP-1|SHP1" "SH2 domain containing|Protein tyrosine phosphatases non-receptor type" "741|812" 1992-02-12 2019-02-14 2023-01-20 5777 ENSG00000111679 OTTHUMG00000168518 uc001qsa.1 NM_002831 "CCDS44820|CCDS44821|CCDS41744" P29350 1639416 MGI:96055 RGD:620660 176883 470932 HGNC:9658 "ENST00000318974.14|NM_002831.6" +HGNC:9657 PTPN5 protein tyrosine phosphatase non-receptor type 5 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "STEP|PTPSTEP|STEP61" striatal-enriched protein tyrosine phosphatase protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) Protein tyrosine phosphatases non-receptor type 812 1992-02-12 2019-02-14 2023-01-20 84867 ENSG00000110786 OTTHUMG00000134304 uc001mpd.5 BC064807 NM_001039970 "CCDS7845|CCDS41626|CCDS60746" P54829 1714595 MGI:97807 RGD:3448 176879 HGNC:9657 "ENST00000358540.7|NM_006906.2" +HGNC:9658 PTPN6 protein tyrosine phosphatase non-receptor type 6 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HCP|HCPH|PTP-1C|SHP-1|SHP1" "SH2 domain containing|Protein tyrosine phosphatases non-receptor type" "741|812" 1992-02-12 2019-02-14 2023-01-20 5777 ENSG00000111679 OTTHUMG00000168518 uc001qsa.1 NM_002831 "CCDS41744|CCDS44821|CCDS44820" P29350 1639416 MGI:96055 RGD:620660 176883 470932 HGNC:9658 "ENST00000318974.14|NM_002831.6" HGNC:9659 PTPN7 protein tyrosine phosphatase non-receptor type 7 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "HEPTP|LC-PTP" Protein tyrosine phosphatases non-receptor type 812 1993-03-03 2019-02-14 2023-01-20 5778 ENSG00000143851 OTTHUMG00000035931 uc001gxm.3 BC001746 NM_002832 "CCDS1423|CCDS1422" P35236 1510684 MGI:2156893 RGD:708516 176889 HGNC:9659 "ENST00000691036.1|NM_002832.4" HGNC:9661 PTPN9 protein tyrosine phosphatase non-receptor type 9 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 MEG2 Protein tyrosine phosphatases non-receptor type 812 1993-03-03 2019-02-14 2023-01-20 5780 ENSG00000169410 OTTHUMG00000142838 uc002bal.5 NM_002833 CCDS10280 P43378 1557404 MGI:1928376 RGD:628726 600768 HGNC:9661 "ENST00000618819.5|NM_002833.4" -HGNC:9644 PTPN11 protein tyrosine phosphatase non-receptor type 11 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "BPTP3|SH-PTP2|SHP-2|PTP2C|SHP2" SH2 domain-containing protein tyrosine phosphatase 2 NS1 "Noonan syndrome 1|protein tyrosine phosphatase, non-receptor type 11" "SH2 domain containing|Protein tyrosine phosphatases non-receptor type" "741|812" 1993-03-03 2019-02-14 2023-01-20 5781 ENSG00000179295 OTTHUMG00000134334 uc001ttx.4 D13540 NM_001330437 "CCDS58280|CCDS81741|CCDS9163" Q06124 "7894486|1280823" MGI:99511 RGD:3447 LRG_614|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_614.xml PTPN11 176876 118143 objectId:3203 HGNC:9644 "ENST00000351677.7|NM_002834.5" HGNC:9644 +HGNC:9644 PTPN11 protein tyrosine phosphatase non-receptor type 11 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "BPTP3|SH-PTP2|SHP-2|PTP2C|SHP2" SH2 domain-containing protein tyrosine phosphatase 2 NS1 "Noonan syndrome 1|protein tyrosine phosphatase, non-receptor type 11" "SH2 domain containing|Protein tyrosine phosphatases non-receptor type" "741|812" 1993-03-03 2019-02-14 2023-01-20 5781 ENSG00000179295 OTTHUMG00000134334 uc001ttx.4 D13540 NM_001330437 "CCDS9163|CCDS81741|CCDS58280" Q06124 "7894486|1280823" MGI:99511 RGD:3447 LRG_614|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_614.xml PTPN11 176876 118143 objectId:3203 HGNC:9644 "ENST00000351677.7|NM_002834.5" HGNC:9644 HGNC:56465 PTPN11P1 PTPN11 pseudogene 1 pseudogene pseudogene Approved 3q13.12 03q13.12 2022-10-19 2022-10-19 344593 ENSG00000239455 NG_022213 PGOHUM00000299118 HGNC:56466 PTPN11P2 PTPN11 pseudogene 2 pseudogene pseudogene Approved 8q12.1 08q12.1 2022-10-19 2022-10-19 100421822 ENSG00000250031 NG_026029 PGOHUM00000303217 HGNC:56467 PTPN11P3 PTPN11 pseudogene 3 pseudogene pseudogene Approved 6q23.3 06q23.3 2022-10-19 2022-10-19 442263 ENSG00000220412 NG_022328 PGOHUM00000301571 @@ -27271,45 +27274,45 @@ HGNC:9645 PTPN12 protein tyrosine phosphatase non-receptor type 12 protein-codin HGNC:9646 PTPN13 protein tyrosine phosphatase non-receptor type 13 protein-coding gene gene with protein product Approved 4q21.3 04q21.3 "PTP1E|PTP-BAS|PTPL1|PTP-BL" APO-1/CD95 (Fas)-associated phosphatase protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) "Protein tyrosine phosphatases non-receptor type|PDZ domain containing|FERM domain containing" "812|1220|1293" 1995-02-17 2019-02-14 2023-01-20 5783 ENSG00000163629 OTTHUMG00000160968 uc003hpz.4 NM_006264 Q12923 8287977 MGI:103293 RGD:1563360 PTPN13 600267 HGNC:9646 "ENST00000411767.7|NM_080683.3" HGNC:9647 PTPN14 protein tyrosine phosphatase non-receptor type 14 protein-coding gene gene with protein product Approved 1q32.3-q41 01q32.3-q41 "PEZ|PTPD2" "Protein tyrosine phosphatases non-receptor type|FERM domain containing" "812|1293" 1995-02-22 2019-02-14 2023-01-20 5784 ENSG00000152104 OTTHUMG00000037039 uc001hkk.3 X82676 NM_005401 CCDS1514 Q15678 "7733990|16534812" MGI:102467 RGD:1307885 603155 468087 HGNC:9647 "ENST00000366956.10|NM_005401.5" HGNC:9647 HGNC:9649 PTPN18 protein tyrosine phosphatase non-receptor type 18 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 BDP1 brain derived phosphatase protein tyrosine phosphatase, non-receptor type 18 (brain-derived) Protein tyrosine phosphatases non-receptor type 812 2000-01-04 2019-02-14 2023-01-20 26469 ENSG00000072135 OTTHUMG00000131630 uc002trc.3 X79568 NM_001142370 "CCDS2161|CCDS46410" Q99952 8950995 MGI:108410 RGD:1311586 606587 469988 HGNC:9649 "ENST00000175756.10|NM_014369.4" -HGNC:23423 PTPN20 protein tyrosine phosphatase non-receptor type 20 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "bA42B19.1|DKFZP566K0524|bA142I17.1|CT126" "PTPN20A|PTPN20B" "protein tyrosine phosphatase, non-receptor type 20A|protein tyrosine phosphatase, non-receptor type 20B" Protein tyrosine phosphatases non-receptor type 812 2004-05-27 2015-03-02 2019-02-14 2023-01-20 26095 ENSG00000204179 OTTHUMG00000018094 NM_015605 "CCDS81456|CCDS73109|CCDS73108|CCDS73110|CCDS73105|CCDS73107|CCDS81454|CCDS73116|CCDS73111|CCDS73114|CCDS73115|CCDS73106|CCDS86087" Q4JDL3 15790311 MGI:1196295 RGD:1309812 610630 HGNC:23423 "ENST00000374339.5|NM_001042357.5" +HGNC:23423 PTPN20 protein tyrosine phosphatase non-receptor type 20 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "bA42B19.1|DKFZP566K0524|bA142I17.1|CT126" "PTPN20A|PTPN20B" "protein tyrosine phosphatase, non-receptor type 20A|protein tyrosine phosphatase, non-receptor type 20B" Protein tyrosine phosphatases non-receptor type 812 2004-05-27 2015-03-02 2019-02-14 2023-01-20 26095 ENSG00000204179 OTTHUMG00000018094 NM_015605 "CCDS73116|CCDS81456|CCDS81454|CCDS73107|CCDS73105|CCDS73114|CCDS73111|CCDS73109|CCDS73110|CCDS73115|CCDS73106|CCDS73108|CCDS86087" Q4JDL3 15790311 MGI:1196295 RGD:1309812 610630 HGNC:23423 "ENST00000374339.5|NM_001042357.5" HGNC:23424 PTPN20CP protein tyrosine phosphatase non-receptor type 20C, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 bA164N7.3 PTPN20C protein tyrosine phosphatase, non-receptor type 20C Protein tyrosine phosphatases non-receptor type 812 2004-05-27 2013-04-02 2019-02-14 2019-02-14 653045 ENSG00000278561 OTTHUMG00000018166 NG_005691 HGNC:23424 HGNC:9651 PTPN21 protein tyrosine phosphatase non-receptor type 21 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "PTPD1|PTPRL10" "Protein tyrosine phosphatases non-receptor type|FERM domain containing" "812|1293" 1999-09-07 2019-02-14 2023-01-20 11099 ENSG00000070778 OTTHUMG00000170766 uc001xwv.5 X79510 NM_007039 CCDS9884 Q16825 7519780 MGI:1344406 RGD:620216 603271 HGNC:9651 "ENST00000556564.6|NM_007039.4" -HGNC:9652 PTPN22 protein tyrosine phosphatase non-receptor type 22 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "Lyp|Lyp1|Lyp2" PTPN8 "protein tyrosine phosphatase, non-receptor type 8|protein tyrosine phosphatase, non-receptor type 22 (lymphoid)" Protein tyrosine phosphatases non-receptor type 812 1999-11-26 2019-02-14 2023-01-20 26191 ENSG00000134242 OTTHUMG00000011936 uc001eds.4 AF001846 NM_015967 "CCDS864|CCDS863|CCDS76191" Q9Y2R2 "10068674|1373816" MGI:107170 RGD:1307992 600716 317445 objectId:3084 HGNC:9652 HGNC:9652 +HGNC:9652 PTPN22 protein tyrosine phosphatase non-receptor type 22 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "Lyp|Lyp1|Lyp2" PTPN8 "protein tyrosine phosphatase, non-receptor type 8|protein tyrosine phosphatase, non-receptor type 22 (lymphoid)" Protein tyrosine phosphatases non-receptor type 812 1999-11-26 2019-02-14 2023-01-20 26191 ENSG00000134242 OTTHUMG00000011936 uc001eds.4 AF001846 NM_015967 "CCDS864|CCDS76191|CCDS863" Q9Y2R2 "10068674|1373816" MGI:107170 RGD:1307992 600716 317445 objectId:3084 HGNC:9652 HGNC:9652 HGNC:14406 PTPN23 protein tyrosine phosphatase non-receptor type 23 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "DKFZP564F0923|KIAA1471|HD-PTP" Protein tyrosine phosphatases non-receptor type 812 2001-02-15 2019-02-14 2023-01-20 25930 ENSG00000076201 OTTHUMG00000133520 uc003crf.2 AB025194 NM_015466 CCDS2754 Q9H3S7 11095967 MGI:2144837 RGD:619892 606584 HGNC:14406 "ENST00000265562.5|NM_015466.4" -HGNC:55397 PTPN23-DT PTPN23 divergent transcript non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 Divergent transcripts 1990 2020-12-21 2020-12-21 119863865 ENSG00000260236 +HGNC:55397 PTPN23-DT PTPN23 divergent transcript non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 Divergent transcripts 1990 2020-12-21 2020-12-21 119863865 ENSG00000260236 NR_185912 HGNC:9664 PTPRA protein tyrosine phosphatase receptor type A protein-coding gene gene with protein product Approved 20p13 20p13 "LRP|HLPR|HPTPA|RPTPA" "PTPRL2|PTPA" Protein tyrosine phosphatases receptor type 813 1990-10-02 2019-02-14 2023-01-20 5786 ENSG00000132670 OTTHUMG00000031718 uc002whk.4 NM_001385302 P18433 "2172030|2169617" MGI:97808 RGD:3450 176884 objectId:1850 HGNC:9664 "ENST00000399903.7|NM_001385305.1" -HGNC:9665 PTPRB protein tyrosine phosphatase receptor type B protein-coding gene gene with protein product Approved 12q15 12q15 PTPB "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1991-05-15 2019-02-14 2023-01-20 5787 ENSG00000127329 OTTHUMG00000169499 uc001swc.6 X54131 NM_001109754 "CCDS44944|CCDS44943|CCDS81713|CCDS55846|CCDS55845" P23467 2169617 MGI:97809 RGD:1305922 PTPRB 176882 objectId:1851 HGNC:9665 "ENST00000334414.11|NM_001109754.4" -HGNC:9666 PTPRC protein tyrosine phosphatase receptor type C protein-coding gene gene with protein product Approved 1q31.3-q32.1 01q31.3-q32.1 "LCA|T200|GP180" CD45 "CD molecules|Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "471|555|813" 1986-01-01 2019-02-14 2023-03-15 5788 ENSG00000081237 OTTHUMG00000035702 uc001gur.3 Y00062 NM_002838 "CCDS1397|CCDS44291|CCDS1398" P08575 2169617 MGI:97810 RGD:3451 "PTPRCbase: Mutation registry for CD45 deficiency|http://structure.bmc.lu.se/idbase/PTPRCbase/|LRG_95|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_95.xml" PTPRC 151460 118151 objectId:1852 CD45 HGNC:9666 "ENST00000442510.8|NM_002838.5" HGNC:9666 +HGNC:9665 PTPRB protein tyrosine phosphatase receptor type B protein-coding gene gene with protein product Approved 12q15 12q15 PTPB "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1991-05-15 2019-02-14 2023-01-20 5787 ENSG00000127329 OTTHUMG00000169499 uc001swc.6 X54131 NM_001109754 "CCDS44943|CCDS44944|CCDS81713|CCDS55845|CCDS55846" P23467 2169617 MGI:97809 RGD:1305922 PTPRB 176882 objectId:1851 HGNC:9665 "ENST00000334414.11|NM_001109754.4" +HGNC:9666 PTPRC protein tyrosine phosphatase receptor type C protein-coding gene gene with protein product Approved 1q31.3-q32.1 01q31.3-q32.1 "LCA|T200|GP180" leukocyte-common antigen CD45 "CD molecules|Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "471|555|813" 1986-01-01 2019-02-14 2023-06-14 5788 ENSG00000081237 OTTHUMG00000035702 uc001gur.3 Y00062 NM_002838 "CCDS1398|CCDS1397|CCDS44291" P08575 2169617 MGI:97810 RGD:3451 "PTPRCbase: Mutation registry for CD45 deficiency|http://structure.bmc.lu.se/idbase/PTPRCbase/|LRG_95|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_95.xml" PTPRC 151460 118151 objectId:1852 CD45 HGNC:9666 "ENST00000442510.8|NM_002838.5" HGNC:9666 HGNC:9667 PTPRCAP protein tyrosine phosphatase receptor type C associated protein protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "LPAP|CD45-AP" 1996-04-22 2019-02-14 2023-01-20 5790 ENSG00000213402 OTTHUMG00000150325 uc001oli.2 NM_005608 CCDS8163 Q14761 MGI:97811 RGD:1559601 601577 HGNC:9667 "ENST00000326294.4|NM_005608.3" -HGNC:9668 PTPRD protein tyrosine phosphatase receptor type D protein-coding gene gene with protein product Approved 9p24.1-p23 09p24.1-p23 "PTPD|HPTP" "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type" "555|593|813" 1992-02-12 2019-02-14 2023-01-20 5789 ENSG00000153707 OTTHUMG00000021005 uc064scf.1 X54133 NM_001040712 "CCDS75813|CCDS6472|CCDS43786|CCDS55288|CCDS55289|CCDS55290" P23468 "7896816|8355697" MGI:97812 RGD:1561090 601598 objectId:1853 HGNC:9668 "ENST00000381196.9|NM_002839.4" +HGNC:9668 PTPRD protein tyrosine phosphatase receptor type D protein-coding gene gene with protein product Approved 9p24.1-p23 09p24.1-p23 "PTPD|HPTP" "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type" "555|593|813" 1992-02-12 2019-02-14 2023-01-20 5789 ENSG00000153707 OTTHUMG00000021005 uc064scf.1 X54133 NM_001040712 "CCDS55288|CCDS55290|CCDS43786|CCDS75813|CCDS6472|CCDS55289" P23468 "7896816|8355697" MGI:97812 RGD:1561090 601598 objectId:1853 HGNC:9668 "ENST00000381196.9|NM_002839.4" HGNC:49753 PTPRD-AS1 PTPRD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.1 09p24.1 Antisense RNAs 1987 2014-02-13 2014-02-13 101929407 ENSG00000225706 OTTHUMG00000019543 AK094342 NR_121599 PTPRD-AS1 HGNC:49753 HGNC:49754 PTPRD-DT PTPRD divergent transcript non-coding RNA RNA, long non-coding Approved 9p23 09p23 PTPRD-AS2 PTPRD antisense RNA 2 (head to head) Divergent transcripts 1990 2014-02-13 2021-08-02 2021-08-02 2021-08-02 101929428 ENSG00000226717 OTTHUMG00000019549 NR_110696 PTPRD-AS2 HGNC:49754 -HGNC:9669 PTPRE protein tyrosine phosphatase receptor type E protein-coding gene gene with protein product Approved 10q26.2 10q26.2 PTPE Protein tyrosine phosphatases receptor type 813 1992-02-12 2019-02-14 2023-01-20 5791 ENSG00000132334 OTTHUMG00000019254 uc001lkb.4 AF406557 NM_001316676 "CCDS7658|CCDS7657" P23469 8595895 MGI:97813 RGD:620771 600926 objectId:1854 HGNC:9669 "ENST00000254667.8|NM_006504.6" -HGNC:9670 PTPRF protein tyrosine phosphatase receptor type F protein-coding gene gene with protein product Approved 1p34.2 01p34.2 LAR "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type" "555|593|813" 1989-06-30 2019-02-14 2023-01-20 5792 ENSG00000142949 OTTHUMG00000007501 uc001cjs.4 Y00815 NM_001329137 "CCDS489|CCDS490" P10586 7558042 MGI:102695 RGD:3453 179590 410737 objectId:1855 HGNC:9670 "ENST00000359947.9|NM_002840.5" HGNC:9670 +HGNC:9669 PTPRE protein tyrosine phosphatase receptor type E protein-coding gene gene with protein product Approved 10q26.2 10q26.2 PTPE Protein tyrosine phosphatases receptor type 813 1992-02-12 2019-02-14 2023-01-20 5791 ENSG00000132334 OTTHUMG00000019254 uc001lkb.4 AF406557 NM_001316676 "CCDS7657|CCDS7658" P23469 8595895 MGI:97813 RGD:620771 600926 objectId:1854 HGNC:9669 "ENST00000254667.8|NM_006504.6" +HGNC:9670 PTPRF protein tyrosine phosphatase receptor type F protein-coding gene gene with protein product Approved 1p34.2 01p34.2 LAR "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type" "555|593|813" 1989-06-30 2019-02-14 2023-01-20 5792 ENSG00000142949 OTTHUMG00000007501 uc001cjs.4 Y00815 NM_001329137 "CCDS490|CCDS489" P10586 7558042 MGI:102695 RGD:3453 179590 410737 objectId:1855 HGNC:9670 "ENST00000359947.9|NM_002840.5" HGNC:9670 HGNC:9671 PTPRG protein tyrosine phosphatase receptor type G protein-coding gene gene with protein product Approved 3p14.2 03p14.2 RPTPG PTPG "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1991-05-15 2019-02-14 2023-01-20 5793 ENSG00000144724 OTTHUMG00000158660 uc003dlb.4 L09247 NM_002841 "CCDS93303|CCDS2895" P23470 1711217 MGI:97814 RGD:620774 176886 objectId:1856 HGNC:9671 "ENST00000474889.6|NM_002841.4" HGNC:44638 PTPRG-AS1 PTPRG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.2 03p14.2 Antisense RNAs 1987 2012-11-23 2012-11-23 100506994 ENSG00000241472 OTTHUMG00000158657 uc062lcp.1 "AK308660|BC041886" NR_038281 PTPRG-AS1 HGNC:44638 -HGNC:9672 PTPRH protein tyrosine phosphatase receptor type H protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SAP-1 "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1994-09-14 2019-02-14 2023-01-20 5794 ENSG00000080031 OTTHUMG00000180701 uc002qjq.4 NM_001161440 "CCDS33110|CCDS54321" Q9HD43 8294459 MGI:3026877 RGD:620553 602510 objectId:1857 HGNC:9672 "ENST00000376350.8|NM_002842.5" -HGNC:9673 PTPRJ protein tyrosine phosphatase receptor type J protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DEP1|HPTPeta|CD148" "CD molecules|Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes" "471|555|813|1691" 1994-09-14 2019-02-14 2023-01-20 5795 ENSG00000149177 OTTHUMG00000166573 uc001ngp.5 U10886 NM_001098503 "CCDS7945|CCDS44596" Q12913 "7937872|7994032" MGI:104574 RGD:3454 600925 objectId:1858 CD148 HGNC:9673 "ENST00000418331.7|NM_002843.4" HGNC:9673 +HGNC:9672 PTPRH protein tyrosine phosphatase receptor type H protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SAP-1 "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1994-09-14 2019-02-14 2023-01-20 5794 ENSG00000080031 OTTHUMG00000180701 uc002qjq.4 NM_001161440 "CCDS54321|CCDS33110" Q9HD43 8294459 MGI:3026877 RGD:620553 602510 objectId:1857 HGNC:9672 "ENST00000376350.8|NM_002842.5" +HGNC:9673 PTPRJ protein tyrosine phosphatase receptor type J protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DEP1|HPTPeta|CD148" "CD molecules|Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes" "471|555|813|1691" 1994-09-14 2019-02-14 2023-01-20 5795 ENSG00000149177 OTTHUMG00000166573 uc001ngp.5 U10886 NM_001098503 "CCDS44596|CCDS7945" Q12913 "7937872|7994032" MGI:104574 RGD:3454 600925 objectId:1858 CD148 HGNC:9673 "ENST00000418331.7|NM_002843.4" HGNC:9673 HGNC:50634 PTPRJ-AS1 PTPRJ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Antisense RNAs 1987 2014-06-01 2014-06-02 104326192 ENSG00000254879 OTTHUMG00000166634 AI365468 23840844 MGI:1918408 PTPRJ-AS1 -HGNC:9674 PTPRK protein tyrosine phosphatase receptor type K protein-coding gene gene with protein product Approved 6q22.33 06q22.33 R-PTP-kappa "Fibronectin type III domain containing|Immunoglobulin like domain containing|Protein tyrosine phosphatases receptor type" "555|594|813" 1998-02-09 2019-02-14 2023-01-20 5796 ENSG00000152894 OTTHUMG00000015536 uc003qbj.4 L77886 NM_001135648 "CCDS47473|CCDS75517|CCDS78179|CCDS5137" Q15262 "9047348|8663237" MGI:103310 RGD:619706 PTPRK 602545 objectId:1859 HGNC:9674 "ENST00000368226.9|NM_002844.4" +HGNC:9674 PTPRK protein tyrosine phosphatase receptor type K protein-coding gene gene with protein product Approved 6q22.33 06q22.33 R-PTP-kappa "Fibronectin type III domain containing|Immunoglobulin like domain containing|Protein tyrosine phosphatases receptor type" "555|594|813" 1998-02-09 2019-02-14 2023-01-20 5796 ENSG00000152894 OTTHUMG00000015536 uc003qbj.4 L77886 NM_001135648 "CCDS75517|CCDS47473|CCDS5137|CCDS78179" Q15262 "9047348|8663237" MGI:103310 RGD:619706 PTPRK 602545 objectId:1859 HGNC:9674 "ENST00000368226.9|NM_002844.4" HGNC:40484 PTPRK-AS1 PTPRK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22.33 06q22.33 Antisense RNAs 1987 2020-03-19 2020-03-19 101928140 ENSG00000227945 OTTHUMG00000015535 NR_125849 HGNC:9675 PTPRM protein tyrosine phosphatase receptor type M protein-coding gene gene with protein product Approved 18p11.23 18p11.23 "RPTPU|hR-PTPu" PTPRL1 "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type|Ig-like cell adhesion molecule family" "555|593|813|1410" 1991-08-23 2019-02-14 2023-01-20 5797 ENSG00000173482 OTTHUMG00000131575 uc002knn.5 X58288 NM_001105244 "CCDS58613|CCDS11840" P28827 "1655529|8404049" MGI:102694 RGD:620776 176888 objectId:1860 HGNC:9675 "ENST00000580170.6|NM_001105244.2" -HGNC:9676 PTPRN protein tyrosine phosphatase receptor type N protein-coding gene gene with protein product Approved 2q35 02q35 "IA-2|ICA512" "insulinoma-associated tyrosine-phosphatase-like protein|islet cell antigen 512" "Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes" "813|1691" 1995-02-17 2019-02-14 2023-01-20 5798 ENSG00000054356 OTTHUMG00000133129 uc002vkz.3 NM_001199763 "CCDS56167|CCDS56168|CCDS2440" Q16849 8024693 MGI:102765 RGD:620777 601773 objectId:1861 HGNC:9676 "ENST00000295718.7|NM_002846.4" -HGNC:9677 PTPRN2 protein tyrosine phosphatase receptor type N2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "KIAA0387|phogrin|ICAAR|IA-2beta" IAR PTPRP protein tyrosine phosphatase, receptor type, N polypeptide 2 "Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes" "813|1691" 1998-03-23 2019-02-14 2023-01-20 5799 ENSG00000155093 OTTHUMG00000152646 uc003wnp.4 AB002385 NM_001308267 "CCDS78294|CCDS5947|CCDS5948|CCDS5949" Q92932 "8954911|9220540" MGI:107418 RGD:61904 601698 objectId:1862 HGNC:9677 "ENST00000389418.9|NM_002847.5" +HGNC:9676 PTPRN protein tyrosine phosphatase receptor type N protein-coding gene gene with protein product Approved 2q35 02q35 "IA-2|ICA512" "insulinoma-associated tyrosine-phosphatase-like protein|islet cell antigen 512" "Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes" "813|1691" 1995-02-17 2019-02-14 2023-01-20 5798 ENSG00000054356 OTTHUMG00000133129 uc002vkz.3 NM_001199763 "CCDS56167|CCDS2440|CCDS56168" Q16849 8024693 MGI:102765 RGD:620777 601773 objectId:1861 HGNC:9676 "ENST00000295718.7|NM_002846.4" +HGNC:9677 PTPRN2 protein tyrosine phosphatase receptor type N2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "KIAA0387|phogrin|ICAAR|IA-2beta" IAR PTPRP protein tyrosine phosphatase, receptor type, N polypeptide 2 "Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes" "813|1691" 1998-03-23 2019-02-14 2023-01-20 5799 ENSG00000155093 OTTHUMG00000152646 uc003wnp.4 AB002385 NM_001308267 "CCDS5947|CCDS5949|CCDS5948|CCDS78294" Q92932 "8954911|9220540" MGI:107418 RGD:61904 601698 objectId:1862 HGNC:9677 "ENST00000389418.9|NM_002847.5" HGNC:40488 PTPRN2-AS1 PTPRN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Antisense RNAs 1987 2020-03-19 2020-03-19 100506585 ENSG00000233038 OTTHUMG00000152644 NR_038966 -HGNC:9678 PTPRO protein tyrosine phosphatase receptor type O protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "PTPU2|GLEPP1|PTP-U2|PTP-oc|NPHS6" osteoclastic transmembrane protein-tyrosine phosphatase "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1995-02-22 2019-02-14 2023-01-20 5800 ENSG00000151490 OTTHUMG00000168786 uc001rcv.3 U20489 NM_002848 "CCDS53754|CCDS8674|CCDS8675|CCDS44837" Q16827 "7519601|7665166|21722858" MGI:1097152 RGD:62068 600579 270424 objectId:1863 HGNC:9678 "ENST00000281171.9|NM_030667.3" HGNC:9678 +HGNC:9678 PTPRO protein tyrosine phosphatase receptor type O protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "PTPU2|GLEPP1|PTP-U2|PTP-oc|NPHS6" osteoclastic transmembrane protein-tyrosine phosphatase "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1995-02-22 2019-02-14 2023-01-20 5800 ENSG00000151490 OTTHUMG00000168786 uc001rcv.3 U20489 NM_002848 "CCDS44837|CCDS8674|CCDS8675|CCDS53754" Q16827 "7519601|7665166|21722858" MGI:1097152 RGD:62068 600579 270424 objectId:1863 HGNC:9678 "ENST00000281171.9|NM_030667.3" HGNC:9678 HGNC:9679 PTPRQ protein tyrosine phosphatase receptor type Q protein-coding gene gene with protein product Approved 12q21.31 12q21.31 phosphatidylinositol phosphatase PTPRQ DFNB84 deafness, autosomal recessive 84 "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1998-03-24 2019-02-14 2023-01-20 374462 ENSG00000139304 OTTHUMG00000170171 uc031zgj.2 AF169351 NM_001145026 CCDS73501 Q9UMZ3 20346435 MGI:1096349 RGD:620779 603317 227397 objectId:1864 3.1.3.48 HGNC:9679 "ENST00000644991.3|NM_001145026.2" HGNC:9679 -HGNC:9680 PTPRR protein tyrosine phosphatase receptor type R protein-coding gene gene with protein product Approved 12q15 12q15 "PTPBR7|PTP-SL|EC-PTP|PCPTP1" PTPRQ Protein tyrosine phosphatases receptor type 813 1999-10-28 2019-02-14 2023-01-20 5801 ENSG00000153233 OTTHUMG00000169502 uc001swi.3 D64053 NM_002849 "CCDS44945|CCDS8998|CCDS55848|CCDS55847" Q15256 "7557444|10393441" MGI:109559 RGD:620780 602853 objectId:1865 HGNC:9680 "ENST00000283228.7|NM_002849.4" -HGNC:9681 PTPRS protein tyrosine phosphatase receptor type S protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type" "555|593|813" 1995-04-27 2019-02-14 2023-03-15 5802 ENSG00000105426 OTTHUMG00000180325 uc002mbw.3 U35234 NM_001394011 "CCDS12139|CCDS12140|CCDS45930" Q13332 "8954782|8524829" MGI:97815 RGD:3452 601576 objectId:1866 HGNC:9681 "ENST00000262963.11|NM_002850.4" -HGNC:56210 PTPRS-AS1 PTPRS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 CTC-482H14.5 Antisense RNAs 1987 2022-02-22 2022-02-22 125177377 ENSG00000267550 35181589 +HGNC:9680 PTPRR protein tyrosine phosphatase receptor type R protein-coding gene gene with protein product Approved 12q15 12q15 "PTPBR7|PTP-SL|EC-PTP|PCPTP1" PTPRQ Protein tyrosine phosphatases receptor type 813 1999-10-28 2019-02-14 2023-01-20 5801 ENSG00000153233 OTTHUMG00000169502 uc001swi.3 D64053 NM_002849 "CCDS55848|CCDS8998|CCDS55847|CCDS44945" Q15256 "7557444|10393441" MGI:109559 RGD:620780 602853 objectId:1865 HGNC:9680 "ENST00000283228.7|NM_002849.4" +HGNC:9681 PTPRS protein tyrosine phosphatase receptor type S protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type" "555|593|813" 1995-04-27 2019-02-14 2023-03-15 5802 ENSG00000105426 OTTHUMG00000180325 uc002mbw.3 U35234 NM_001394011 "CCDS12140|CCDS45930|CCDS12139" Q13332 "8954782|8524829" MGI:97815 RGD:3452 601576 objectId:1866 HGNC:9681 "ENST00000262963.11|NM_002850.4" +HGNC:56210 PTPRS-AS1 PTPRS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 CTC-482H14.5 Antisense RNAs 1987 2022-02-22 2022-02-22 125177377 ENSG00000267550 NR_186338 35181589 HGNC:9682 PTPRT protein tyrosine phosphatase receptor type T protein-coding gene gene with protein product Approved 20q12-q13.11 20q12-q13.11 "RPTPrho|KIAA0283" "Fibronectin type III domain containing|Immunoglobulin like domain containing|Protein tyrosine phosphatases receptor type" "555|594|813" 1999-08-26 2019-02-14 2023-01-20 11122 ENSG00000196090 OTTHUMG00000033040 uc061xcb.1 AF043644 NM_001394024 "CCDS68127|CCDS42874" O14522 "9486824|9602027" MGI:1321152 RGD:1309653 PTPRT 608712 objectId:1867 HGNC:9682 "ENST00000373187.6|NM_007050.6" HGNC:40491 PTPRT-AS1 PTPRT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q12 20q12 Antisense RNAs 1987 2020-03-19 2020-03-19 101927138 ENSG00000227599 OTTHUMG00000032495 NR_149017 HGNC:55715 PTPRT-DT PTPRT divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.11 20q13.11 Divergent transcripts 1990 2021-07-12 2021-07-12 121853075 ENSG00000233508 XR_007067592 -HGNC:9683 PTPRU protein tyrosine phosphatase receptor type U protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "PTPRO|hPTP-J|PCP-2|FMI|PTP" pi R-PTP-Psi "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1999-10-28 2019-02-14 2023-01-20 10076 ENSG00000060656 OTTHUMG00000003699 uc001bru.4 U71075 NM_001195001 "CCDS53290|CCDS335|CCDS334|CCDS44098" Q92729 "8700514|9434160" MGI:1321151 RGD:620782 602454 objectId:1868 HGNC:9683 "ENST00000373779.8|NM_133178.4" +HGNC:9683 PTPRU protein tyrosine phosphatase receptor type U protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "PTPRO|hPTP-J|PCP-2|FMI|PTP" pi R-PTP-Psi "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1999-10-28 2019-02-14 2023-01-20 10076 ENSG00000060656 OTTHUMG00000003699 uc001bru.4 U71075 NM_001195001 "CCDS53290|CCDS334|CCDS44098|CCDS335" Q92729 "8700514|9434160" MGI:1321151 RGD:620782 602454 objectId:1868 HGNC:9683 "ENST00000373779.8|NM_133178.4" HGNC:13421 PTPRVP protein tyrosine phosphatase receptor type V, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 "OST-PTP|ESP" PTPRV Protein tyrosine phosphatases receptor type 813 2005-06-07 2010-03-16 2019-02-14 2020-08-14 148713 ENSG00000243323 OTTHUMG00000040524 AJ629456 XM_086287 15358244 MGI:108027 HGNC:13421 HGNC:9685 PTPRZ1 protein tyrosine phosphatase receptor type Z1 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "PTP18|RPTPB|phosphacan" "PTPZ|PTPRZ" protein tyrosine phosphatase, receptor-type, Z polypeptide 1 "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1991-05-15 2019-02-14 2023-01-20 5803 ENSG00000106278 OTTHUMG00000157057 uc003vjy.4 M93426 NM_002851 "CCDS34740|CCDS94187|CCDS56505" P23471 "7736789|8387522" MGI:97816 RGD:3455 LRG_1387|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1387.xml 176891 objectId:1869 HGNC:9685 "ENST00000393386.7|NM_002851.3" HGNC:9686 PTPRZ2 protein tyrosine phosphatase receptor type Z2 other unknown Approved 1p36.3 01p36.3 "HTPZP2|PTPRZ" protein tyrosine phosphatase, receptor-type, Z polypeptide 2 1997-08-15 2019-02-14 2019-02-14 5804 "9653645|1323835" 604008 -HGNC:27039 PTRH1 peptidyl-tRNA hydrolase 1 homolog protein-coding gene gene with protein product Approved 9q34.11 09q34.11 PTH1 C9orf115 "chromosome 9 open reading frame 115|peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)" 2004-03-25 2006-02-13 2015-07-09 2023-01-20 138428 ENSG00000187024 OTTHUMG00000020710 uc011mah.4 AK090922 NM_001002913 "CCDS87693|CCDS35147" Q86Y79 MGI:1913779 RGD:1310165 HGNC:27039 "ENST00000543175.5|NM_001002913.3" +HGNC:27039 PTRH1 peptidyl-tRNA hydrolase 1 homolog protein-coding gene gene with protein product Approved 9q34.11 09q34.11 PTH1 C9orf115 "chromosome 9 open reading frame 115|peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)" 2004-03-25 2006-02-13 2015-07-09 2023-01-20 138428 ENSG00000187024 OTTHUMG00000020710 uc011mah.4 AK090922 NM_001002913 "CCDS35147|CCDS87693" Q86Y79 MGI:1913779 RGD:1310165 HGNC:27039 "ENST00000543175.5|NM_001002913.3" HGNC:24265 PTRH2 peptidyl-tRNA hydrolase 2 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "BIT1|CGI-147|PTH2|CFAP37" "Bcl-2 inhibitor of transcription|cilia and flagella associated protein 37" Cilia and flagella associated 1491 2006-02-22 2023-01-20 51651 ENSG00000141378 OTTHUMG00000154532 uc002ixt.4 AF151905 NM_016077 "CCDS77076|CCDS11618" Q9Y3E5 "10810093|15006356|14660562" MGI:2444848 RGD:1306819 608625 457522 HGNC:24265 "ENST00000393038.3|NM_016077.5" HGNC:24265 HGNC:33782 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 LOC391356 C2orf79 chromosome 2 open reading frame 79 2008-07-18 2011-05-09 2011-05-09 2023-01-20 391356 ENSG00000184924 OTTHUMG00000151978 uc002rfm.4 NM_001013663 CCDS33156 Q6GMV3 27753167 MGI:1916959 RGD:1561792 617342 HGNC:33782 "ENST00000328379.6|NM_001013663.2" HGNC:9689 PTS 6-pyruvoyltetrahydropterin synthase protein-coding gene gene with protein product Approved 11q23.1 11q23.1 PTPS 1988-05-11 2023-01-20 5805 ENSG00000150787 OTTHUMG00000167167 uc001pnj.5 U63382 NM_000317 CCDS8359 Q03393 8188266 MGI:1338783 RGD:68367 BIOMDBdb: Database of Mutations Causing BH4 Deficiencies and other PND|http://www.biopku.org/home/biomdb.asp 612719 118157 4.2.3.12 HGNC:9689 "ENST00000280362.8|NM_000317.3" HGNC:9689 @@ -27321,20 +27324,20 @@ HGNC:56817 PTTG1P2 PTTG1 pseudogene 2 pseudogene pseudogene Approved 11q12.3 11q HGNC:9691 PTTG2 pituitary tumor-transforming 2 protein-coding gene gene with protein product Approved 4p14 04p14 1999-02-23 2023-01-20 10744 ENSG00000250254 OTTHUMG00000160424 uc011bye.3 AF095288 NM_006607 CCDS54755 Q9NZH5 "10084610|10806349" MGI:1353578 604231 HGNC:9691 "ENST00000504686.2|NM_006607.3" HGNC:13422 PTTG3P pituitary tumor-transforming 3, pseudogene pseudogene pseudogene Approved 8q13.1 08q13.1 PTTG1P3 PTTG3 pituitary tumor-transforming 3 2004-01-22 2009-08-21 2011-04-15 2023-05-03 26255 ENSG00000213005 OTTHUMG00000164788 AF095289 NR_002734 Q9NZH4 "10806349|29803224" MGI:1353578 PGOHUM00000257190 HGNC:13422 HGNC:9692 PTX3 pentraxin 3 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 TSG-14 "long pentraxin 3|Tumor necrosis factor-inducible gene 14 protein" TNFAIP5 "pentaxin-related gene, rapidly induced by IL-1 beta|tumor necrosis factor, alpha-induced protein 5|pentraxin-related gene, rapidly induced by IL-1 beta|pentraxin 3, long" Long pentraxins 1142 1993-11-08 2015-11-17 2023-01-20 5806 ENSG00000163661 OTTHUMG00000158750 uc003fbl.5 X63613 NM_002852 CCDS3180 P26022 "1429570|11110705" MGI:104641 RGD:1593476 602492 HGNC:9692 "ENST00000295927.4|NM_002852.4" -HGNC:14171 PTX4 pentraxin 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 long pentraxin 4 C16orf38 "chromosome 16 open reading frame 38|pentraxin 4, long" Long pentraxins 1142 2000-12-21 2010-03-30 2015-11-17 2023-01-20 390667 ENSG00000251692 OTTHUMG00000044470 uc010uvf.2 NM_001013658 "CCDS32362|CCDS86492" Q96A99 MGI:1915759 RGD:1311190 613442 HGNC:14171 "ENST00000447419.7|NM_001328608.2" -HGNC:16818 PUDP pseudouridine 5'-phosphatase protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 "DXF68S1E|GS1" "FAM16AX|HDHD1A|HDHD1" "family with sequence similarity 16, member A, X-linked|haloacid dehalogenase-like hydrolase domain containing 1A|haloacid dehalogenase-like hydrolase domain containing 1" "HAD Asp-based non-protein phosphatases|Haloacid dehalogenase like hydrolase domain containing" "1045|1377" 2003-02-11 2015-08-12 2015-08-12 2023-01-20 8226 ENSG00000130021 OTTHUMG00000021101 M86934 NM_012080 "CCDS55367|CCDS48075|CCDS55366|CCDS48076" Q08623 "1734713|1284467|20722631" MGI:1914615 RGD:1305101 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDHD1 306480 3.1.3.96 HGNC:16818 "ENST00000381077.10|NM_012080.5" +HGNC:14171 PTX4 pentraxin 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 long pentraxin 4 C16orf38 "chromosome 16 open reading frame 38|pentraxin 4, long" Long pentraxins 1142 2000-12-21 2010-03-30 2015-11-17 2023-01-20 390667 ENSG00000251692 OTTHUMG00000044470 uc010uvf.2 NM_001013658 "CCDS86492|CCDS32362" Q96A99 MGI:1915759 RGD:1311190 613442 HGNC:14171 "ENST00000447419.7|NM_001328608.2" +HGNC:16818 PUDP pseudouridine 5'-phosphatase protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 "DXF68S1E|GS1" "FAM16AX|HDHD1A|HDHD1" "family with sequence similarity 16, member A, X-linked|haloacid dehalogenase-like hydrolase domain containing 1A|haloacid dehalogenase-like hydrolase domain containing 1" "HAD Asp-based non-protein phosphatases|Haloacid dehalogenase like hydrolase domain containing" "1045|1377" 2003-02-11 2015-08-12 2015-08-12 2023-01-20 8226 ENSG00000130021 OTTHUMG00000021101 M86934 NM_012080 "CCDS48075|CCDS55366|CCDS55367|CCDS48076" Q08623 "1734713|1284467|20722631" MGI:1914615 RGD:1305101 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDHD1 306480 3.1.3.96 HGNC:16818 "ENST00000381077.10|NM_012080.5" HGNC:20200 PUDPP1 pseudouridine 5'-phosphatase pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 "FAM16AY|HDHD1BP|HDHD1P1" "family with sequence similarity 16, member A, Y-linked|HDHD family member 1B, pseudogene|haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 1" Haloacid dehalogenase like hydrolase domain containing 1377 2003-02-13 2015-08-13 2015-08-13 2015-08-13 327658 ENSG00000234620 OTTHUMG00000036408 NG_002612 "1734713|1284467" PGOHUM00000233753 HGNC:20200 HGNC:20195 PUDPP2 pseudouridine 5'-phosphatase pseudogene 2 pseudogene pseudogene Approved 1q21.3 01q21.3 "FAM16B|HDHD1CP|HDHD1P2" "family with sequence similarity 16, member B|HDHD family member 1C, pseudogene|haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 2" 2003-02-13 2015-08-13 2015-08-13 2015-08-13 327659 ENSG00000233792 OTTHUMG00000013067 NG_002613 1284467 PGOHUM00000244271 HGNC:20195 HGNC:38118 PUDPP3 pseudouridine 5'-phosphatase pseudogene 3 pseudogene pseudogene Approved 20q11.21 20q11.21 "HDHD1DP|HDHD1P3" "HDHD family member 1D, pseudogene|haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 3" 2010-04-20 2015-08-13 2015-08-13 2015-08-13 391242 ENSG00000214245 OTTHUMG00000032236 NG_021980 PGOHUM00000247512 HGNC:38118 -HGNC:17042 PUF60 poly(U) binding splicing factor 60 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FIR|SIAHBP1|RoBPI" "siah binding protein 1|FBP interacting repressor|pyrimidine tract binding splicing factor|Ro ribonucleoprotein binding protein 1" poly(U) binding splicing factor 60KDa "RNA binding motif containing|Spliceosomal A complex" "725|1504" 2007-07-27 2016-06-22 2023-01-20 22827 ENSG00000179950 OTTHUMG00000165155 uc003yzs.5 AF114818 NM_014281 "CCDS94356|CCDS59515|CCDS59516|CCDS94354|CCDS47935|CCDS47934|CCDS47933|CCDS94355|CCDS59514" Q9UHX1 "10668799|10882074|17579712" MGI:1915209 RGD:621674 604819 470934 HGNC:17042 "ENST00000526683.6|NM_078480.3" HGNC:17042 +HGNC:17042 PUF60 poly(U) binding splicing factor 60 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FIR|SIAHBP1|RoBPI" "siah binding protein 1|FBP interacting repressor|pyrimidine tract binding splicing factor|Ro ribonucleoprotein binding protein 1" poly(U) binding splicing factor 60KDa "RNA binding motif containing|Spliceosomal A complex" "725|1504" 2007-07-27 2016-06-22 2023-01-20 22827 ENSG00000179950 OTTHUMG00000165155 uc003yzs.5 AF114818 NM_014281 "CCDS94354|CCDS94356|CCDS94355|CCDS59514|CCDS59516|CCDS59515|CCDS47934|CCDS47935|CCDS47933" Q9UHX1 "10668799|10882074|17579712" MGI:1915209 RGD:621674 604819 470934 HGNC:17042 "ENST00000526683.6|NM_078480.3" HGNC:17042 HGNC:14957 PUM1 pumilio RNA binding family member 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "PUMH1|KIAA0099" pumilio homolog 1 (Drosophila) "Pumilio homology domain containing|Small nucleolar RNA protein coding host genes" "1494|1835" 2001-03-27 2015-11-05 2023-01-20 9698 ENSG00000134644 OTTHUMG00000003795 uc001bsi.2 AF315592 NM_001020658 "CCDS338|CCDS44099" Q14671 MGI:1931749 RGD:1307190 607204 HGNC:14957 "ENST00000426105.7|NM_001020658.2" HGNC:14957 -HGNC:14958 PUM2 pumilio RNA binding family member 2 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "PUMH2|KIAA0235" pumilio homolog 2 (Drosophila) Pumilio homology domain containing 1494 2001-03-27 2015-11-05 2023-03-15 23369 ENSG00000055917 OTTHUMG00000122098 uc002rdu.3 AF315591 NM_015317 "CCDS92717|CCDS1698" Q8TB72 "9039502|12459267|12511597" MGI:1931751 RGD:1311024 607205 HGNC:14958 "ENST00000361078.7|NM_015317.5" +HGNC:14958 PUM2 pumilio RNA binding family member 2 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "PUMH2|KIAA0235" pumilio homolog 2 (Drosophila) Pumilio homology domain containing 1494 2001-03-27 2015-11-05 2023-03-15 23369 ENSG00000055917 OTTHUMG00000122098 uc002rdu.3 AF315591 NM_015317 "CCDS1698|CCDS92717" Q8TB72 "9039502|12459267|12511597" MGI:1931751 RGD:1311024 607205 HGNC:14958 "ENST00000361078.7|NM_015317.5" HGNC:29676 PUM3 pumilio RNA binding family member 3 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 "XTP5|PEN|PUF6|hPUF-A|HA-8|Puf-A" "penguin homolog (Drosophila)|minor histocompatibility antigen HA-8" KIAA0020 KIAA0020 "Minor histocompatibility antigens|Pumilio homology domain containing" "870|1494" 2004-01-06 2015-10-02 2015-11-05 2023-01-20 9933 ENSG00000080608 OTTHUMG00000019450 AL832239 NM_014878 CCDS6448 Q15397 "7584026|7584028|21266351" MGI:106253 RGD:1564753 609960 HGNC:29676 "ENST00000397885.3|NM_014878.5" HGNC:9701 PURA purine rich element binding protein A protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "PURALPHA|PUR1|PUR-ALPHA" 1993-10-19 2016-06-06 2023-01-20 5813 ENSG00000185129 OTTHUMG00000129242 uc003lfa.4 BC036087 NM_005859 CCDS4220 Q00577 "1448097|25342064|28448108" MGI:103079 RGD:1308543 600473 418205 HGNC:9701 "ENST00000331327.5|NM_005859.5" HGNC:9701 HGNC:9702 PURB purine rich element binding protein B protein-coding gene gene with protein product Approved 7p13 07p13 PURBETA MicroRNA protein coding host genes 1691 1993-10-19 2016-06-06 2023-01-20 5814 ENSG00000146676 OTTHUMG00000023578 uc003tme.5 NM_033224 CCDS5499 Q96QR8 1448097 MGI:1338779 RGD:1559465 608887 HGNC:9702 "ENST00000395699.5|NM_033224.5" -HGNC:17930 PURG purine rich element binding protein G protein-coding gene gene with protein product Approved 8p12 08p12 "PURG-A|PURG-B" 2004-02-09 2016-06-06 2023-01-20 29942 ENSG00000172733 OTTHUMG00000157357 uc003xin.4 AF195513 NM_013357 "CCDS34878|CCDS6081" Q9UJV8 12034829 MGI:1922279 RGD:1305088 618041 HGNC:17930 "ENST00000523392.2|NM_001323311.2" +HGNC:17930 PURG purine rich element binding protein G protein-coding gene gene with protein product Approved 8p12 08p12 "PURG-A|PURG-B" 2004-02-09 2016-06-06 2023-01-20 29942 ENSG00000172733 OTTHUMG00000157357 uc003xin.4 AF195513 NM_013357 "CCDS6081|CCDS34878" Q9UJV8 12034829 MGI:1922279 RGD:1305088 618041 HGNC:17930 "ENST00000523392.2|NM_001323311.2" HGNC:48995 PURPL p53 upregulated regulator of p53 levels non-coding RNA RNA, long non-coding Approved 5p14.1 05p14.1 "LOC643401|RP11-46C20.1" LINC01021 long intergenic non-protein coding RNA 1021 Long non-coding RNAs with non-systematic symbols 1992 2013-07-26 2017-09-08 2017-09-08 2018-09-07 643401 ENSG00000250337 OTTHUMG00000161968 NR_038848 "28877474|29262524" LINC01021 HGNC:48995 -HGNC:15508 PUS1 pseudouridine synthase 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 MLASA1 "tRNA pseudouridine(38-40) synthase|mitochondrial myopathy and sideroblastic anemia 1" pseudouridylate synthase 1 Pseudouridine synthases 1665 2001-04-06 2018-09-12 2023-01-20 80324 ENSG00000177192 OTTHUMG00000128507 uc001ujf.4 AF116238 NM_025215 "CCDS9275|CCDS31928" Q9Y606 "10094309|15108122|24722331" MGI:1929237 RGD:1311871 608109 118160 5.4.99.12 HGNC:15508 "ENST00000376649.8|NM_025215.6" HGNC:15508 +HGNC:15508 PUS1 pseudouridine synthase 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 MLASA1 "tRNA pseudouridine(38-40) synthase|mitochondrial myopathy and sideroblastic anemia 1" pseudouridylate synthase 1 Pseudouridine synthases 1665 2001-04-06 2018-09-12 2023-01-20 80324 ENSG00000177192 OTTHUMG00000128507 uc001ujf.4 AF116238 NM_025215 "CCDS31928|CCDS9275" Q9Y606 "10094309|15108122|24722331" MGI:1929237 RGD:1311871 608109 118160 5.4.99.12 HGNC:15508 "ENST00000376649.8|NM_025215.6" HGNC:15508 HGNC:40706 PUS1-AS1 PUS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 AC131009.1 Antisense RNAs 1987 2022-11-10 2022-11-10 107984455 ENSG00000255992 OTTHUMG00000168249 XR_001749414 HGNC:25461 PUS3 pseudouridine synthase 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FKSG32|DEG1" "tRNA pseudouridine(38/39) synthase|tRNA-uridine isomerase 3" pseudouridylate synthase 3 Pseudouridine synthases 1665 2004-08-23 2018-09-12 2023-01-20 83480 ENSG00000110060 OTTHUMG00000165870 uc001qcy.3 BC004822 NM_031307 "CCDS73411|CCDS8466" Q9BZE2 27055666 MGI:1914299 RGD:1310757 616283 5.4.99.45 HGNC:25461 "ENST00000227474.8|NM_031307.4" HGNC:25461 HGNC:26033 PUS7 pseudouridine synthase 7 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 FLJ20485 "pseudouridylate synthase 7 homolog (S. cerevisiae)|pseudouridylate synthase 7 (putative)|pseudouridylate synthase 7" Pseudouridine synthases 1665 2006-02-07 2018-09-12 2023-01-20 54517 ENSG00000091127 OTTHUMG00000157399 uc003vcy.5 AK128629 NM_019042 CCDS34725 Q96PZ0 "11572484|29628141|30778726" MGI:1925947 RGD:1307054 616261 HGNC:26033 "ENST00000469408.6|NM_019042.5" HGNC:26033 @@ -27344,8 +27347,8 @@ HGNC:26505 PUS10 pseudouridine synthase 10 protein-coding gene gene with protein HGNC:26914 PUSL1 pseudouridine synthase like 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ90811 pseudouridylate synthase like 1 Pseudouridine synthases 1665 2004-08-23 2018-09-12 2023-01-20 126789 ENSG00000169972 OTTHUMG00000003361 uc001aed.4 AK027721 NM_153339 CCDS20 Q8N0Z8 28082677 MGI:3047787 RGD:1559560 HGNC:26914 "ENST00000379031.10|NM_153339.3" HGNC:9704 PVALB parvalbumin protein-coding gene gene with protein product Approved 22q12.3 22q12.3 D22S749 parvalbumin alpha EF-hand domain containing 863 1986-01-01 2023-01-20 5816 ENSG00000100362 OTTHUMG00000150547 uc003apx.4 NM_002854 CCDS13933 P20472 "1559707|10591208" MGI:97821 RGD:3457 168890 HGNC:9704 "ENST00000417718.7|NM_001315532.2" HGNC:40053 PVALEF parvalbumin like EF-hand containing protein-coding gene gene with protein product Approved 17q25.3 17q25.3 AATK-AS1 "AATK antisense RNA 1 (non-protein coding)|AATK antisense RNA 1" 2011-05-04 2017-06-30 2017-06-30 2023-03-15 388428 ENSG00000225180 OTTHUMG00000150182 uc010wul.1 NM_001354639 CCDS86647 A0A1B0GWK0 AATK-AS1 HGNC:40053 "ENST00000637878.2|NM_001354639.2" -HGNC:9705 PVR PVR cell adhesion molecule protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "CD155|HVED|Necl-5|NECL5|Tage4" nectin-like 5 PVS poliovirus receptor "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 2001-06-22 2019-03-14 2023-01-20 5817 ENSG00000073008 OTTHUMG00000151527 uc032hzv.2 BC015542 NM_006505 "CCDS46105|CCDS46106|CCDS12640|CCDS46107" P15151 "2170108|28870470" MGI:107741 RGD:3813 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 173850 objectId:3095 CD155 HGNC:9705 "ENST00000425690.8|NM_006505.5" -HGNC:32190 PVRIG PVR related immunoglobulin domain containing protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC2463|C7orf15|CD112R" "CD112 receptor|nectin-2 receptor" poliovirus receptor related immunoglobulin domain containing 2006-09-20 2017-09-14 2023-01-20 79037 ENSG00000213413 OTTHUMG00000156798 uc003uuf.2 BC001129 NM_024070 "CCDS5690|CCDS94154" Q6DKI7 16926269 MGI:5596028 RGD:1585866 617012 objectId:3080 HGNC:32190 "ENST00000699088.1|NM_001397246.1" +HGNC:9705 PVR PVR cell adhesion molecule protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "CD155|HVED|Necl-5|NECL5|Tage4" nectin-like 5 PVS poliovirus receptor "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 2001-06-22 2019-03-14 2023-01-20 5817 ENSG00000073008 OTTHUMG00000151527 uc032hzv.2 BC015542 NM_006505 "CCDS46107|CCDS46106|CCDS12640|CCDS46105" P15151 "2170108|28870470" MGI:107741 RGD:3813 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 173850 objectId:3095 CD155 HGNC:9705 "ENST00000425690.8|NM_006505.5" +HGNC:32190 PVRIG PVR related immunoglobulin domain containing protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC2463|C7orf15|CD112R" "CD112 receptor|nectin-2 receptor" poliovirus receptor related immunoglobulin domain containing 2006-09-20 2017-09-14 2023-01-20 79037 ENSG00000213413 OTTHUMG00000156798 uc003uuf.2 BC001129 NM_024070 "CCDS94154|CCDS5690" Q6DKI7 16926269 MGI:5596028 RGD:1585866 617012 objectId:3080 HGNC:32190 "ENST00000699088.1|NM_001397246.1" HGNC:48897 PVRIG2P PVR related immunoglobulin domain containing 2, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 poliovirus receptor related immunoglobulin domain containing 2, pseudogene 2013-06-26 2022-02-03 2022-02-03 101752334 ENSG00000235333 OTTHUMG00000156886 NR_103728 HGNC:48897 HGNC:9709 PVT1 Pvt1 oncogene non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "NCRNA00079|LINC00079|onco-lncRNA-100|MIR1204HG|TP53LC09" "non-protein coding RNA 79|long intergenic non-protein coding RNA 79|MIR1204, MIR1205, MIR1206 and MIR1207 host gene|plasmacytoma variant translocation 1" "pvt-1 (murine) oncogene homolog, MYC activator|Pvt1 oncogene homolog (mouse)|Pvt1 oncogene (non-protein coding)" "MicroRNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1992" 2001-06-22 2018-05-16 2022-07-22 5820 ENSG00000249859 OTTHUMG00000164871 uc003ysl.4 M31519 NR_003367 "17503467|23801869" MGI:97824 RGD:6496716 165140 pvt1 PVT1 HGNC:9709 HGNC:30089 PWAR1 Prader Willi/Angelman region RNA 1 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 "PAR1|PAR-1" Prader Willi/Angelman region 1 Long non-coding RNAs with non-systematic symbols 1992 2013-06-14 2018-09-07 145624 ENSG00000279050 OTTHUMG00000176879 NR_022009 "7987392|9477342" 600161 HGNC:30089 @@ -27353,13 +27356,13 @@ HGNC:29998 PWAR4 Prader Willi/Angelman region RNA 4 non-coding RNA RNA, long non HGNC:30090 PWAR5 Prader Willi/Angelman region RNA 5 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 "PAR5|PAR-5" Prader Willi/Angelman syndrome 5 Long non-coding RNAs with non-systematic symbols 1992 2013-06-14 2016-11-11 8123 ENSG00000279192 OTTHUMG00000184194 NR_022008 "7987392|9477342|23726844" 600162 HGNC:30090 HGNC:49129 PWAR6 Prader Willi/Angelman region RNA 6 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 "HBT8|PAR-6" Long non-coding RNAs with non-systematic symbols 1992 2013-09-11 2013-09-11 2014-03-28 100506965 ENSG00000257151 OTTHUMG00000170276 "BC043194|AK096584" NR_146168 HGNC:49129 HGNC:30001 PWARSN Prader Willi/Angelman region RNA, SNRPN neighbor non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 "PAR-SN|PARSN" paternally expressed transcript adjacent to snRPN Long non-coding RNAs with non-systematic symbols 1992 2013-06-14 2013-06-14 2015-05-27 347746 NR_022011 "12210318|8858349" HGNC:30001 -HGNC:17015 PWP1 PWP1 homolog, endonuclein protein-coding gene gene with protein product Approved 12q23.3 12q23.3 IEF-SSP-9502 endonuclein PWP1 homolog (S. cerevisiae) WD repeat domain containing 362 2005-05-13 2015-07-09 2023-01-20 11137 ENSG00000136045 OTTHUMG00000169913 uc001tmo.2 BC000067 NM_007062 "CCDS81735|CCDS9114" Q13610 "7828893|11850830" MGI:1914735 RGD:1310705 620055 HGNC:17015 "ENST00000412830.8|NM_007062.3" +HGNC:17015 PWP1 PWP1 homolog, endonuclein protein-coding gene gene with protein product Approved 12q23.3 12q23.3 IEF-SSP-9502 endonuclein PWP1 homolog (S. cerevisiae) WD repeat domain containing 362 2005-05-13 2015-07-09 2023-01-20 11137 ENSG00000136045 OTTHUMG00000169913 uc001tmo.2 BC000067 NM_007062 "CCDS9114|CCDS81735" Q13610 "7828893|11850830" MGI:1914735 RGD:1310705 620055 HGNC:17015 "ENST00000412830.8|NM_007062.3" HGNC:9711 PWP2 PWP2 small subunit processome component protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "EHOC-17|UTP1" PWP2H "PWP2 periodic tryptophan protein homolog (yeast)|PWP2, small subunit processome component" "WD repeat domain containing|UTPb subcomplex" "362|1225" 1996-04-17 2006-11-24 2019-01-25 2023-01-20 5822 ENSG00000241945 OTTHUMG00000086893 uc002zeb.4 NM_005049 CCDS33579 Q15269 8893822 MGI:1341200 RGD:1582817 601475 HGNC:9711 "ENST00000291576.12|NM_005049.3" HGNC:33235 PWRN1 Prader-Willi region non-protein coding RNA 1 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 NCRNA00198 non-protein coding RNA 198 Long non-coding RNAs with non-systematic symbols 1992 2007-01-04 2008-08-13 2023-03-29 791114 ENSG00000259905 OTTHUMG00000173077 uc059gtr.1 "AC139362|AC139147|AC100720" NR_026646 17337158 611215 PWRN1 HGNC:33235 HGNC:33236 PWRN2 Prader-Willi region non-protein coding RNA 2 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 NCRNA00199 non-protein coding RNA 199 Long non-coding RNAs with non-systematic symbols 1992 2007-01-04 2008-08-13 2018-09-07 791115 ENSG00000260551 OTTHUMG00000173073 uc001ywl.3 AC087474 NR_026647 17337158 611217 PWRN2 HGNC:33236 HGNC:49131 PWRN3 Prader-Willi region non-protein coding RNA 3 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 Long non-coding RNAs with non-systematic symbols 1992 2013-09-11 2013-09-11 101928840 ENSG00000260760 OTTHUMG00000176387 "AA412395|DB060889" NR_130780 PWRN3 HGNC:49131 HGNC:49130 PWRN4 Prader-Willi region non-protein coding RNA 4 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 LINC01084 long intergenic non-protein coding RNA 1084 Long non-coding RNAs with non-systematic symbols 1992 2013-09-11 2013-09-11 2014-02-12 105370731 ENSG00000260232 OTTHUMG00000172887 "CK820921|BI712798" NR_126392 PWRN4 HGNC:49130 -HGNC:29406 PWWP2A PWWP domain containing 2A protein-coding gene gene with protein product Approved 5q33.3 05q33.3 KIAA1935 PWWP domain containing 1147 2007-10-22 2023-01-20 114825 ENSG00000170234 OTTHUMG00000163546 uc011ded.3 NM_001130864 "CCDS47332|CCDS58990|CCDS47331" Q96N64 MGI:1918052 RGD:1305891 617823 HGNC:29406 "ENST00000307063.9|NM_001130864.2" +HGNC:29406 PWWP2A PWWP domain containing 2A protein-coding gene gene with protein product Approved 5q33.3 05q33.3 KIAA1935 PWWP domain containing 1147 2007-10-22 2023-01-20 114825 ENSG00000170234 OTTHUMG00000163546 uc011ded.3 NM_001130864 "CCDS47332|CCDS47331|CCDS58990" Q96N64 MGI:1918052 RGD:1305891 617823 HGNC:29406 "ENST00000307063.9|NM_001130864.2" HGNC:39709 PWWP2AP1 PWWP domain containing 2A pseudogene 1 pseudogene pseudogene Approved 13q31.1 13q31.1 2011-03-23 2011-03-23 100129459 ENSG00000226683 OTTHUMG00000017142 NG_011459 PGOHUM00000248646 HGNC:39709 HGNC:25150 PWWP2B PWWP domain containing 2B protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "bA432J24.1|FLJ46823" PWWP2 PWWP domain containing 2 PWWP domain containing 1147 2004-03-16 2007-10-22 2007-10-22 2023-01-20 170394 ENSG00000171813 OTTHUMG00000019286 uc001lll.5 AK128663 NM_138499 "CCDS7667|CCDS44497" Q6NUJ5 MGI:2142008 RGD:1307108 HGNC:25150 "ENST00000305233.6|NM_138499.4" HGNC:29641 PWWP3A PWWP domain containing 3A, DNA repair factor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MUM-1|EXPAND1" MUM1 melanoma associated antigen (mutated) 1 PWWP domain containing 1147 2004-02-12 2018-10-19 2018-10-19 2023-01-20 84939 ENSG00000160953 OTTHUMG00000180055 uc060qzb.1 AK075241 NM_032853 "CCDS92480|CCDS12062" Q2TAK8 "20347427|7644523" MGI:1915364 RGD:1308340 HGNC:29641 "ENST00000591337.7|NM_001369789.1" @@ -27368,75 +27371,75 @@ HGNC:55197 PWWP4 PWWP domain containing 4 protein-coding gene gene with protein HGNC:21361 PXDC1 PX domain containing 1 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 C6orf145 chromosome 6 open reading frame 145 2003-06-10 2011-11-25 2011-11-25 2023-01-20 221749 ENSG00000168994 OTTHUMG00000014146 uc003mvt.3 AJ420534 NM_183373 CCDS4486 Q5TGL8 MGI:1914145 RGD:1311307 HGNC:21361 "ENST00000380283.5|NM_183373.4" HGNC:14966 PXDN peroxidasin protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "KIAA0230|PRG2|MG50|D2S448|D2S448E|PXN" peroxidasin homolog (Drosophila) I-set domain containing 593 2005-07-19 2014-12-17 2023-01-20 7837 ENSG00000130508 OTTHUMG00000059697 uc002qxa.4 AF200348 NM_012293 CCDS46221 Q92626 "10441517|9039502|22842973" MGI:1916925 RGD:1560694 605158 285089 HGNC:14966 "ENST00000252804.9|NM_012293.3" HGNC:14966 HGNC:26359 PXDNL peroxidasin like protein-coding gene gene with protein product Approved 8q11.22-q11.23 08q11.22-q11.23 "FLJ25471|PMR1" polysomal ribonuclease 1 homolog (Xenopus) "peroxidasin homolog-like (Drosophila)|peroxidasin homolog (Drosophila)-like" I-set domain containing 593 2005-07-19 2015-11-09 2023-01-20 137902 ENSG00000147485 OTTHUMG00000164244 uc003xqu.5 NM_144651 CCDS47855 A1KZ92 "22543864|24924147" 615904 HGNC:26359 "ENST00000356297.5|NM_144651.5" -HGNC:23326 PXK PX domain containing serine/threonine kinase like protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "FLJ20335|Slob" PX domain containing serine/threonine kinase 2003-11-07 2016-01-27 2023-01-20 54899 ENSG00000168297 OTTHUMG00000159149 uc003djz.3 AY274811 NM_017771 "CCDS87098|CCDS74954|CCDS74955|CCDS87097|CCDS2889|CCDS74952" Q7Z7A4 20086096 MGI:1289230 RGD:727819 611450 364829 objectId:2183 HGNC:23326 "ENST00000356151.7|NM_017771.5" +HGNC:23326 PXK PX domain containing serine/threonine kinase like protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "FLJ20335|Slob" PX domain containing serine/threonine kinase 2003-11-07 2016-01-27 2023-01-20 54899 ENSG00000168297 OTTHUMG00000159149 uc003djz.3 AY274811 NM_017771 "CCDS87097|CCDS2889|CCDS87098|CCDS74952|CCDS74955|CCDS74954" Q7Z7A4 20086096 MGI:1289230 RGD:727819 611450 364829 objectId:2183 HGNC:23326 "ENST00000356151.7|NM_017771.5" HGNC:9716 PXMP2 peroxisomal membrane protein 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "PMP22|MPV17L3" "peroxisomal membrane protein 2 (22kD)|peroxisomal membrane protein 2, 22kDa" 1992-03-03 2015-11-09 2023-01-20 5827 ENSG00000176894 OTTHUMG00000168019 uc001ukt.3 NM_018663 CCDS9279 Q9NR77 "11590176|19352492" MGI:107487 RGD:61812 617399 470936 HGNC:9716 "ENST00000317479.8|NM_018663.3" -HGNC:15920 PXMP4 peroxisomal membrane protein 4 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 PMP24 24 kDa peroxisomal intrinsic membrane protein "peroxisomal membrane protein 4 (24kD)|peroxisomal membrane protein 4, 24kDa" Tim17 family 1857 2001-06-21 2015-11-09 2023-01-20 11264 ENSG00000101417 OTTHUMG00000032273 uc002wzv.4 AF072864 NM_007238 "CCDS13225|CCDS13226" Q9Y6I8 10366717 MGI:1891701 RGD:628782 616397 470938 HGNC:15920 "ENST00000409299.8|NM_007238.5" -HGNC:9718 PXN paxillin protein-coding gene gene with protein product Approved 12q24.23 12q24.23 LIM domain containing 1218 1998-04-29 2023-01-20 5829 ENSG00000089159 OTTHUMG00000169169 uc001txv.3 U14588 NM_002859 "CCDS91758|CCDS44997|CCDS58281|CCDS44998|CCDS91759|CCDS44996" P49023 7534286 MGI:108295 RGD:1305759 602505 HGNC:9718 "ENST00000637617.2|NM_001385981.1" +HGNC:15920 PXMP4 peroxisomal membrane protein 4 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 PMP24 24 kDa peroxisomal intrinsic membrane protein "peroxisomal membrane protein 4 (24kD)|peroxisomal membrane protein 4, 24kDa" Tim17 family 1857 2001-06-21 2015-11-09 2023-01-20 11264 ENSG00000101417 OTTHUMG00000032273 uc002wzv.4 AF072864 NM_007238 "CCDS13226|CCDS13225" Q9Y6I8 10366717 MGI:1891701 RGD:628782 616397 470938 HGNC:15920 "ENST00000409299.8|NM_007238.5" +HGNC:9718 PXN paxillin protein-coding gene gene with protein product Approved 12q24.23 12q24.23 LIM domain containing 1218 1998-04-29 2023-01-20 5829 ENSG00000089159 OTTHUMG00000169169 uc001txv.3 U14588 NM_002859 "CCDS91759|CCDS44997|CCDS44996|CCDS44998|CCDS58281|CCDS91758" P49023 7534286 MGI:108295 RGD:1305759 602505 HGNC:9718 "ENST00000637617.2|NM_001385981.1" HGNC:44123 PXN-AS1 PXN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.23 12q24.23 EyeLinc4 PXN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2019-07-12 100506649 ENSG00000255857 OTTHUMG00000169166 uc058uai.1 NR_038924 31173488 PXN-AS1 HGNC:44123 HGNC:18312 PXT1 peroxisomal testis enriched protein 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 STEPP peroxisomal, testis specific 1 2004-04-30 2018-02-22 2023-01-20 222659 ENSG00000179165 OTTHUMG00000159815 uc003omd.3 AF486827 NM_152990 CCDS4820 Q8NFP0 MGI:1916557 RGD:2321717 HGNC:18312 "ENST00000454782.3|NM_152990.4" -HGNC:26303 PXYLP1 2-phosphoxylose phosphatase 1 protein-coding gene gene with protein product Approved 3q23 03q23 FLJ23751 ACPL2 acid phosphatase-like 2 Acid phosphatases 1071 2004-09-16 2014-03-17 2014-03-17 2023-01-20 92370 ENSG00000155893 OTTHUMG00000160171 NM_152282 "CCDS3116|CCDS63797" Q8TE99 24425863 MGI:2442444 RGD:1359617 619732 HGNC:26303 "ENST00000286353.9|NM_001037172.3" -HGNC:16608 PYCARD PYD and CARD domain containing protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "TMS-1|CARD5|ASC" "apoptosis-associated speck-like|apoptosis-associated speck-like protein containing a CARD" "Caspase recruitment domain containing|Pyrin domain containing" "959|994" 2004-06-25 2023-01-20 29108 ENSG00000103490 OTTHUMG00000176753 uc010cak.4 AB023416 NM_013258 "CCDS10708|CCDS10709" Q9ULZ3 "11250163|10567338|11103776" MGI:1931465 RGD:628637 606838 HGNC:16608 "ENST00000247470.10|NM_013258.5" +HGNC:26303 PXYLP1 2-phosphoxylose phosphatase 1 protein-coding gene gene with protein product Approved 3q23 03q23 FLJ23751 ACPL2 acid phosphatase-like 2 Acid phosphatases 1071 2004-09-16 2014-03-17 2014-03-17 2023-01-20 92370 ENSG00000155893 OTTHUMG00000160171 NM_152282 "CCDS63797|CCDS3116" Q8TE99 24425863 MGI:2442444 RGD:1359617 619732 HGNC:26303 "ENST00000286353.9|NM_001037172.3" +HGNC:16608 PYCARD PYD and CARD domain containing protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "TMS-1|CARD5|ASC" "apoptosis-associated speck-like|apoptosis-associated speck-like protein containing a CARD" "Caspase recruitment domain containing|Pyrin domain containing" "959|994" 2004-06-25 2023-01-20 29108 ENSG00000103490 OTTHUMG00000176753 uc010cak.4 AB023416 NM_013258 "CCDS10709|CCDS10708" Q9ULZ3 "11250163|10567338|11103776" MGI:1931465 RGD:628637 606838 HGNC:16608 "ENST00000247470.10|NM_013258.5" HGNC:45036 PYCARD-AS1 PYCARD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 "C16orf98|PYCARDOS" "chromosome 16 open reading frame 98|PYCARD opposite strand" Antisense RNAs 1987 2013-01-22 2014-10-03 2014-10-03 2023-01-25 100652740 ENSG00000261359 OTTHUMG00000132405 NR_102400 I3L0S3 31086376 PYCARD-AS1 HGNC:45036 -HGNC:9721 PYCR1 pyrroline-5-carboxylate reductase 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 P5C 1992-11-24 2023-01-20 5831 ENSG00000183010 OTTHUMG00000178436 uc002kct.3 NM_001282279 "CCDS62366|CCDS11794|CCDS62365|CCDS82221|CCDS11795" P32322 1730675 MGI:2384795 RGD:1307863 179035 201595 1.5.1.2 HGNC:9721 "ENST00000329875.13|NM_006907.4" HGNC:9721 -HGNC:30262 PYCR2 pyrroline-5-carboxylate reductase 2 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 P5CR2 pyrroline-5-carboxylate reductase family member 2 MicroRNA protein coding host genes 1691 2004-03-11 2017-03-22 2023-01-20 29920 ENSG00000143811 OTTHUMG00000037506 uc001hpq.5 AF151351 NM_013328 "CCDS31043|CCDS73039" Q96C36 25865492 MGI:1277956 RGD:1310074 616406 1.5.1.2 HGNC:30262 "ENST00000343818.11|NM_013328.4" HGNC:30262 -HGNC:25846 PYCR3 pyrroline-5-carboxylate reductase 3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ13852 PYCRL pyrroline-5-carboxylate reductase-like 2004-03-19 2017-03-22 2017-03-22 2023-01-20 65263 ENSG00000104524 OTTHUMG00000157010 uc003yyy.3 AF086378 NM_023078 "CCDS94351|CCDS6407" Q53H96 MGI:1913444 RGD:1309115 616408 1.5.1.2 HGNC:25846 "ENST00000495276.6|NM_023078.6" +HGNC:9721 PYCR1 pyrroline-5-carboxylate reductase 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 P5C 1992-11-24 2023-01-20 5831 ENSG00000183010 OTTHUMG00000178436 uc002kct.3 NM_001282279 "CCDS62365|CCDS11794|CCDS82221|CCDS11795|CCDS62366" P32322 1730675 MGI:2384795 RGD:1307863 179035 201595 1.5.1.2 HGNC:9721 "ENST00000329875.13|NM_006907.4" HGNC:9721 +HGNC:30262 PYCR2 pyrroline-5-carboxylate reductase 2 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 P5CR2 pyrroline-5-carboxylate reductase family member 2 MicroRNA protein coding host genes 1691 2004-03-11 2017-03-22 2023-01-20 29920 ENSG00000143811 OTTHUMG00000037506 uc001hpq.5 AF151351 NM_013328 "CCDS73039|CCDS31043" Q96C36 25865492 MGI:1277956 RGD:1310074 616406 1.5.1.2 HGNC:30262 "ENST00000343818.11|NM_013328.4" HGNC:30262 +HGNC:25846 PYCR3 pyrroline-5-carboxylate reductase 3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ13852 PYCRL pyrroline-5-carboxylate reductase-like 2004-03-19 2017-03-22 2017-03-22 2023-01-20 65263 ENSG00000104524 OTTHUMG00000157010 uc003yyy.3 AF086378 NM_023078 "CCDS6407|CCDS94351" Q53H96 MGI:1913444 RGD:1309115 616408 1.5.1.2 HGNC:25846 "ENST00000495276.6|NM_023078.6" HGNC:30261 PYDC1 pyrin domain containing 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "ASC2|POP1" Pyrin domain containing 994 2005-04-14 2016-03-22 2023-01-20 260434 ENSG00000169900 OTTHUMG00000132407 uc002ebo.4 NM_152901 CCDS10710 Q8WXC3 "11786556|16905547|12656673" 615700 HGNC:30261 "ENST00000302964.4|NM_152901.4" HGNC:33512 PYDC2 pyrin domain containing 2 protein-coding gene gene with protein product Approved 3q28 03q28 POP2 Pyrin domain containing 994 2008-07-29 2023-03-15 152138 ENSG00000253548 OTTHUMG00000156167 uc011bso.2 NM_001083308 Q56P42 17178784 615701 HGNC:33512 "ENST00000518817.1|NM_001083308.1" HGNC:52874 PYDC2-AS1 PYDC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 LINCR-0002 Antisense RNAs 1987 2022-01-06 2022-01-06 103344926 ENSG00000223812 OTTHUMG00000156168 NR_120606 24847104 HGNC:53781 PYDC5 pyrin domain containing 5 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 POP3 pyrin domain only protein 3 2017-11-23 2023-01-20 107181291 ENSG00000289721 NM_001320010 CCDS91078 W6CW81 24531343 HGNC:53781 "ENST00000696987.1|NM_001320010.2" HGNC:9723 PYGB glycogen phosphorylase B protein-coding gene gene with protein product Approved 20p11.21 20p11.21 glycogen phosphorylase, brain form phosphorylase, glycogen; brain Glycogen phosphorylases 437 1988-06-27 2016-10-13 2023-01-20 5834 ENSG00000100994 OTTHUMG00000032117 uc002wup.4 NM_002862 CCDS13171 P11216 MGI:97828 RGD:3460 138550 2.4.1.1 HGNC:9723 "ENST00000216962.9|NM_002862.4" -HGNC:9725 PYGL glycogen phosphorylase L protein-coding gene gene with protein product Approved 14q22.1 14q22.1 GSD6 "Hers disease|glycogen storage disease type VI|glycogen phosphorylase, liver form" phosphorylase, glycogen; liver Glycogen phosphorylases 437 2001-06-22 2016-10-13 2023-01-20 5836 ENSG00000100504 OTTHUMG00000166596 uc001wyu.4 NM_002863 "CCDS53894|CCDS32080" P06737 2877458 MGI:97829 RGD:620687 613741 118180 2.4.1.1 HGNC:9725 "ENST00000216392.8|NM_002863.5" HGNC:9725 +HGNC:9725 PYGL glycogen phosphorylase L protein-coding gene gene with protein product Approved 14q22.1 14q22.1 GSD6 "Hers disease|glycogen storage disease type VI|glycogen phosphorylase, liver form" phosphorylase, glycogen; liver Glycogen phosphorylases 437 2001-06-22 2016-10-13 2023-01-20 5836 ENSG00000100504 OTTHUMG00000166596 uc001wyu.4 NM_002863 "CCDS32080|CCDS53894" P06737 2877458 MGI:97829 RGD:620687 613741 118180 2.4.1.1 HGNC:9725 "ENST00000216392.8|NM_002863.5" HGNC:9725 HGNC:9726 PYGM glycogen phosphorylase, muscle associated protein-coding gene gene with protein product Approved 11q13.1 11q13.1 GSD5 "McArdle syndrome|glycogen storage disease type V|glycogen phosphorylase, muscle form|myophosphorylase" phosphorylase, glycogen; muscle Glycogen phosphorylases 437 2001-06-22 2016-10-13 2023-01-20 5837 ENSG00000068976 OTTHUMG00000066835 uc001oax.5 NM_005609 "CCDS53659|CCDS8079" P11217 "2461546|25914343" MGI:97830 RGD:3461 608455 118182 2.4.1.1 HGNC:9726 "ENST00000164139.4|NM_005609.4" HGNC:9726 -HGNC:30256 PYGO1 pygopus family PHD finger 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 pygopus homolog 1 (Drosophila) "PHD finger proteins|Wnt enhanceosome complex" "88|1677" 2004-11-10 2013-10-09 2023-01-20 26108 ENSG00000171016 OTTHUMG00000132009 uc031qsf.3 AF457207 NM_015617 "CCDS81885|CCDS10155" Q9Y3Y4 11988739 MGI:1919385 RGD:1594620 606902 HGNC:30256 "ENST00000563719.4|NM_001367806.1" +HGNC:30256 PYGO1 pygopus family PHD finger 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 pygopus homolog 1 (Drosophila) "PHD finger proteins|Wnt enhanceosome complex" "88|1677" 2004-11-10 2013-10-09 2023-01-20 26108 ENSG00000171016 OTTHUMG00000132009 uc031qsf.3 AF457207 NM_015617 "CCDS10155|CCDS81885" Q9Y3Y4 11988739 MGI:1919385 RGD:1594620 606902 HGNC:30256 "ENST00000563719.4|NM_001367806.1" HGNC:30257 PYGO2 pygopus family PHD finger 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 pygopus homolog 2 (Drosophila) "PHD finger proteins|Wnt enhanceosome complex" "88|1677" 2004-11-10 2013-10-09 2023-01-20 90780 ENSG00000163348 OTTHUMG00000037370 uc001fft.4 BC006132 NM_138300 CCDS1075 Q9BRQ0 11988739 MGI:1916161 RGD:1308535 606903 HGNC:30257 "ENST00000368457.3|NM_138300.4" -HGNC:28894 PYHIN1 pyrin and HIN domain family member 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "IFIX|MGC23885" pyrin and HIN domain family, member 1 "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 2005-01-24 2015-11-18 2023-01-20 149628 ENSG00000163564 OTTHUMG00000037109 uc001ftb.4 AY185344 NM_152501 "CCDS30907|CCDS91077|CCDS30908|CCDS1179|CCDS1178" Q6K0P9 15122330 "MGI:96429|MGI:101847|MGI:3041120" 612677 objectId:2925 HGNC:28894 "ENST00000368140.6|NM_152501.5" +HGNC:28894 PYHIN1 pyrin and HIN domain family member 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "IFIX|MGC23885" pyrin and HIN domain family, member 1 "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 2005-01-24 2015-11-18 2023-01-20 149628 ENSG00000163564 OTTHUMG00000037109 uc001ftb.4 AY185344 NM_152501 "CCDS91077|CCDS30908|CCDS30907|CCDS1179|CCDS1178" Q6K0P9 15122330 "MGI:96429|MGI:101847|MGI:3041120" 612677 objectId:2925 HGNC:28894 "ENST00000368140.6|NM_152501.5" HGNC:51820 PYHIN5P pyrin and HIN domain family member 5, pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 pyrin and HIN domain family, member 5, pseudogene "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 2015-06-16 2015-11-18 2015-11-18 646377 ENSG00000229849 OTTHUMG00000022771 NG_029130 HGNC:51820 -HGNC:30258 PYM1 PYM homolog 1, exon junction complex associated factor protein-coding gene gene with protein product Approved 12q13.2 12q13.2 PYM partner of Y14 and Mago WIBG within bgcn homolog (Drosophila) 2005-03-17 2015-09-28 2015-09-28 2023-01-20 84305 ENSG00000170473 OTTHUMG00000170220 BC014976 NM_032345 "CCDS44916|CCDS41795" Q9BRP8 "12438415|12483225" MGI:1925678 RGD:1306096 619753 HGNC:30258 "ENST00000408946.7|NM_032345.3" -HGNC:26162 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "DKFZp762G094|FLJ22028" 2007-08-02 2023-01-20 79912 ENSG00000121350 OTTHUMG00000169129 uc001rew.4 AL832441 NM_024854 "CCDS86287|CCDS31755" Q8WU10 27745833 MGI:2676395 RGD:1303253 617220 HGNC:26162 "ENST00000240651.14|NM_024854.5" HGNC:26162 +HGNC:30258 PYM1 PYM homolog 1, exon junction complex associated factor protein-coding gene gene with protein product Approved 12q13.2 12q13.2 PYM partner of Y14 and Mago WIBG within bgcn homolog (Drosophila) 2005-03-17 2015-09-28 2015-09-28 2023-01-20 84305 ENSG00000170473 OTTHUMG00000170220 BC014976 NM_032345 "CCDS41795|CCDS44916" Q9BRP8 "12438415|12483225" MGI:1925678 RGD:1306096 619753 HGNC:30258 "ENST00000408946.7|NM_032345.3" +HGNC:26162 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "DKFZp762G094|FLJ22028" 2007-08-02 2023-01-20 79912 ENSG00000121350 OTTHUMG00000169129 uc001rew.4 AL832441 NM_024854 "CCDS31755|CCDS86287" Q8WU10 27745833 MGI:2676395 RGD:1303253 617220 HGNC:26162 "ENST00000240651.14|NM_024854.5" HGNC:26162 HGNC:23517 PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 FLJ23849 C10orf33 chromosome 10 open reading frame 33 MicroRNA protein coding host genes 1691 2003-11-21 2009-04-22 2009-04-22 2023-01-20 84795 ENSG00000119943 OTTHUMG00000018877 uc001kpc.4 AK074429 NM_032709 CCDS7474 Q8N2H3 MGI:1921830 RGD:1303232 617889 HGNC:23517 "ENST00000370575.5|NM_032709.3" HGNC:44317 PYURF PIGY upstream open reading frame protein-coding gene gene with protein product Approved 4q22.1 04q22.1 PreY PIGY upstream reading frame 2012-08-14 2021-03-11 2023-03-08 100996939 ENSG00000145337 OTTHUMG00000130949 uc003hru.3 NM_032906 CCDS3631 Q96I23 16162815 MGI:1913709 RGD:1565524 619956 HGNC:44317 "ENST00000273968.5|NM_032906.5" HGNC:9748 PYY peptide YY protein-coding gene gene with protein product Approved 17q21.31 17q21.31 PYY1 prepro-PYY Neuropeptides 1902 1994-09-14 2023-01-20 5697 ENSG00000131096 OTTHUMG00000181801 uc002ieq.4 NM_004160 "CCDS92333|CCDS32662" P10082 7782089 MGI:99924 RGD:1593289 600781 ligandId:1514 HGNC:9748 "ENST00000692052.1|NM_001394028.1" HGNC:9749 PYY2 peptide YY 2 (pseudogene) pseudogene pseudogene Approved 17q11.2 17q11.2 seminalplasmin peptide YY, 2 (seminalplasmin) 1999-10-19 2016-08-08 2023-03-15 23615 ENSG00000237575 OTTHUMG00000132450 AF222904 NR_003064 Q9NRI6 7831336 606637 HGNC:9749 HGNC:31855 PYY3 peptide YY 3 (pseudogene) pseudogene pseudogene Approved Xp11.22 Xp11.22 OTTHUMG00000021515 peptide YY, 3 2006-07-04 2016-08-08 2023-03-15 644059 ENSG00000181977 OTTHUMG00000021515 NG_007615 Q5JQD4 MGI:99924 PGOHUM00000260961 HGNC:31855 HGNC:9750 PZP PZP alpha-2-macroglobulin like protein-coding gene gene with protein product Approved 12p13.31 12p13.31 CPAMD6 "pregnancy-zone protein|PZP, alpha-2-macroglobulin like" Alpha-2-macroglobulin family 2148 1989-06-30 2019-01-25 2023-01-20 5858 ENSG00000126838 OTTHUMG00000154915 uc001qvl.3 "X54380|M24416|X51541" NM_002864 CCDS8600 P20742 "1989698|2415522" "MGI:99836|MGI:99837|MGI:3648717" RGD:1302962 176420 I39.003 HGNC:9750 "ENST00000261336.7|NM_002864.3" -HGNC:9751 QARS1 glutaminyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 glutamine tRNA ligase QARS glutaminyl-tRNA synthetase "Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes" "131|1691" 1994-12-13 2019-07-15 2019-07-15 2023-01-20 5859 ENSG00000172053 OTTHUMG00000156774 uc003cvx.6 X76013 NM_005051 "CCDS2788|CCDS63633" P47897 "8078941|10393422" MGI:1915851 RGD:1359448 603727 406879 6.1.1.18 HGNC:9751 "ENST00000306125.12|NM_005051.3" HGNC:9751 +HGNC:9751 QARS1 glutaminyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 glutamine tRNA ligase QARS glutaminyl-tRNA synthetase "Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes" "131|1691" 1994-12-13 2019-07-15 2019-07-15 2023-01-20 5859 ENSG00000172053 OTTHUMG00000156774 uc003cvx.6 X76013 NM_005051 "CCDS63633|CCDS2788" P47897 "8078941|10393422" MGI:1915851 RGD:1359448 603727 406879 6.1.1.18 HGNC:9751 "ENST00000306125.12|NM_005051.3" HGNC:9751 HGNC:9752 QDPR quinoid dihydropteridine reductase protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "DHPR|PKU2|SDR33C1" "6,7-dihydropteridine reductase|short chain dehydrogenase/reductase family 33C, member 1" Short chain dehydrogenase/reductase superfamily 743 2001-06-22 2023-01-20 5860 ENSG00000151552 OTTHUMG00000128537 uc003gpd.4 AB053170 NM_000320 "CCDS77904|CCDS3421" P09417 19027726 MGI:97836 RGD:619915 BIOMDBdb: Database of Mutations Causing BH4 Deficiencies and other PND|http://www.biopku.org/home/biomdb.asp 612676 118184 1.5.1.34 HGNC:9752 "ENST00000281243.10|NM_000320.3" HGNC:9752 -HGNC:21100 QKI QKI, KH domain containing RNA binding protein-coding gene gene with protein product Approved 6q26 06q26 QK3 quaking homolog, KH domain RNA binding (mouse) 2003-05-19 2016-07-01 2023-01-20 9444 ENSG00000112531 OTTHUMG00000015977 uc003qui.3 AB067798 NM_006775 "CCDS43525|CCDS5287|CCDS5285|CCDS5286|CCDS75546" Q96PU8 10535969 MGI:97837 RGD:1584886 QKI 609590 460502 HGNC:21100 "ENST00000361752.8|NM_006775.3" HGNC:21100 +HGNC:21100 QKI QKI, KH domain containing RNA binding protein-coding gene gene with protein product Approved 6q26 06q26 QK3 quaking homolog, KH domain RNA binding (mouse) 2003-05-19 2016-07-01 2023-01-20 9444 ENSG00000112531 OTTHUMG00000015977 uc003qui.3 AB067798 NM_006775 "CCDS5285|CCDS5286|CCDS75546|CCDS5287|CCDS43525" Q96PU8 10535969 MGI:97837 RGD:1584886 QKI 609590 460502 HGNC:21100 "ENST00000361752.8|NM_006775.3" HGNC:21100 HGNC:55255 QKILA QKI interacting lncRNA non-coding RNA RNA, long non-coding Approved 4q31.1 04q31.1 Loc490 Long non-coding RNAs with non-systematic symbols 1992 2021-10-07 2021-10-07 101927490 ENSG00000261268 XR_939252 32931453 HGNC:28144 QNG1 Q-nucleotide N-glycosylase 1 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 MGC10999 C9orf64 chromosome 9 open reading frame 64 2004-01-06 2023-01-09 2023-01-09 2023-01-20 84267 ENSG00000165118 OTTHUMG00000020111 uc004anb.4 AK090882 NM_032307 "CCDS83381|CCDS6666" Q5T6V5 "24911101|21499256|36610787" MGI:1917403 RGD:1311345 611342 HGNC:28144 "ENST00000376344.8|NM_032307.5" HGNC:9753 QPCT glutaminyl-peptide cyclotransferase protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "QC|GCT" glutaminyl cyclase M28 metallopeptidases 1444 1999-11-16 2008-07-31 2023-01-20 25797 ENSG00000115828 OTTHUMG00000100963 uc002rqg.4 X71125 NM_012413 CCDS1790 Q16769 7999256 MGI:1917786 RGD:1562284 607065 M28.974 objectId:2411 2.3.2.5 HGNC:9753 "ENST00000338415.8|NM_012413.4" -HGNC:25952 QPCTL glutaminyl-peptide cyclotransferase like protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ20084 glutaminyl cyclase-like M28 metallopeptidases 1444 2004-10-01 2016-06-22 2023-01-20 54814 ENSG00000011478 OTTHUMG00000182131 uc010xxr.3 AK000091 NM_017659 "CCDS54282|CCDS12672" Q9NXS2 MGI:1914619 RGD:1308128 M28.016 HGNC:25952 "ENST00000012049.10|NM_017659.4" +HGNC:25952 QPCTL glutaminyl-peptide cyclotransferase like protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ20084 glutaminyl cyclase-like M28 metallopeptidases 1444 2004-10-01 2016-06-22 2023-01-20 54814 ENSG00000011478 OTTHUMG00000182131 uc010xxr.3 AK000091 NM_017659 "CCDS12672|CCDS54282" Q9NXS2 MGI:1914619 RGD:1308128 M28.016 HGNC:25952 "ENST00000012049.10|NM_017659.4" HGNC:9755 QPRT quinolinate phosphoribosyltransferase protein-coding gene gene with protein product Approved 16p11.2 16p11.2 QPRTase nicotinate-nucleotide pyrophosphorylase (carboxylating) 1999-11-16 2008-07-31 2023-01-20 23475 ENSG00000103485 OTTHUMG00000097770 uc002dto.4 D78177 NM_014298 "CCDS10651|CCDS81965" Q15274 9473669 MGI:1914625 RGD:1310309 606248 2.4.2.19 HGNC:9755 "ENST00000395384.9|NM_014298.6" HGNC:29982 QRFP pyroglutamylated RFamide peptide protein-coding gene gene with protein product Approved 9q34.12 09q34.12 "26RFa|P518|prepro-26RFa" prepro-QRFP Receptor ligands 542 2007-06-14 2023-01-20 347148 ENSG00000188710 OTTHUMG00000131663 uc064woc.1 AB109625 NM_198180 CCDS6936 P83859 "12714592|15808908" MGI:3630329 RGD:735020 609795 ligandId:3665 HGNC:29982 "ENST00000623824.2|NM_198180.3" HGNC:15565 QRFPR pyroglutamylated RFamide peptide receptor protein-coding gene gene with protein product Approved 4q27 04q27 peptide P518 receptor GPR103 G protein-coupled receptor 103 Peptide receptors 220 2001-06-25 2008-12-18 2008-12-18 2023-01-20 84109 ENSG00000186867 OTTHUMG00000133036 uc010inj.2 AF411117 NM_198179 CCDS3719 Q96P65 11574155 MGI:2677633 RGD:728380 606925 objectId:333 HGNC:15565 "ENST00000394427.3|NM_198179.3" HGNC:24713 QRICH1 glutamine rich 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ20259|VERBRAS|AB-DIP" Caspase recruitment domain containing 959 2005-12-19 2016-01-27 2023-01-20 54870 ENSG00000198218 OTTHUMG00000156772 uc003cvv.4 NM_017730 CCDS2787 Q2TAL8 "15923395|28692176" MGI:1916482 RGD:1311095 617387 HGNC:24713 "ENST00000395443.7|NM_198880.3" HGNC:24713 -HGNC:25326 QRICH2 glutamine rich 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 DKFZP434P0316 2005-12-21 2023-01-20 84074 ENSG00000129646 OTTHUMG00000167578 uc002jrd.1 AK058102 NM_032134 "CCDS92399|CCDS32741" Q9H0J4 MGI:2684912 RGD:1562974 618304 HGNC:25326 "ENST00000680821.2|NM_001388453.1" HGNC:25326 +HGNC:25326 QRICH2 glutamine rich 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 DKFZP434P0316 2005-12-21 2023-01-20 84074 ENSG00000129646 OTTHUMG00000167578 uc002jrd.1 AK058102 NM_032134 "CCDS32741|CCDS92399" Q9H0J4 MGI:2684912 RGD:1562974 618304 HGNC:25326 "ENST00000680821.2|NM_001388453.1" HGNC:25326 HGNC:21020 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 protein-coding gene gene with protein product Approved 6q21 06q21 "GatA|FLJ10989|FLJ12189|DKFZP564C1278|FLJ13447|GATA" glutamyl-tRNA(Gln) amidotransferase, subunit A "glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1|QRSL1, glutaminyl-tRNA amidotransferase subunit A" Glutamyl-tRNA amidotransferase subunits 1663 2003-05-06 2019-01-22 2023-01-20 55278 ENSG00000130348 OTTHUMG00000015301 uc003prm.4 AK001851 NM_018292 CCDS5057 Q9H0R6 19805282 MGI:1923813 RGD:1359490 617209 HGNC:21020 "ENST00000369046.8|NM_018292.5" HGNC:21020 HGNC:43667 QRSL1P1 QRSL1 pseudogene 1 pseudogene pseudogene Approved 1q24.2 01q24.2 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 1 2012-01-26 2018-08-09 2018-08-09 730016 ENSG00000215833 OTTHUMG00000034645 NG_009546 PGOHUM00000244326 HGNC:43667 HGNC:43668 QRSL1P2 QRSL1 pseudogene 2 pseudogene pseudogene Approved 1q41 01q41 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 2 2012-01-26 2018-08-09 2018-08-09 100422330 ENSG00000227613 OTTHUMG00000037422 NG_027044 PGOHUM00000244436 HGNC:43668 HGNC:43669 QRSL1P3 QRSL1 pseudogene 3 pseudogene pseudogene Approved 14q13.2 14q13.2 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 3 2012-01-26 2018-08-09 2018-08-09 100422374 ENSG00000257957 OTTHUMG00000170562 NG_027348 PGOHUM00000248135 HGNC:43669 HGNC:26154 QSER1 glutamine and serine rich 1 protein-coding gene gene with protein product Approved 11p13 11p13 FLJ21924 2006-02-06 2023-01-20 79832 ENSG00000060749 OTTHUMG00000166220 uc001mty.4 AL834141 NM_024774 CCDS41631 Q2KHR3 MGI:2138986 RGD:1311804 619440 HGNC:26154 "ENST00000650167.2|NM_001076786.3" -HGNC:9756 QSOX1 quiescin sulfhydryl oxidase 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 thiol oxidase 1 QSCN6 "quiescin Q6|quiescin Q6 sulfhydryl oxidase 1" 1998-05-15 2007-04-23 2015-11-27 2023-01-20 5768 ENSG00000116260 OTTHUMG00000035256 uc001gnz.4 U97276 NM_002826 "CCDS30950|CCDS1337" O00391 "9878249|8396966|12176051" MGI:1330818 RGD:68957 603120 1.8.3.2 HGNC:9756 "ENST00000367602.8|NM_002826.5" +HGNC:9756 QSOX1 quiescin sulfhydryl oxidase 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 thiol oxidase 1 QSCN6 "quiescin Q6|quiescin Q6 sulfhydryl oxidase 1" 1998-05-15 2007-04-23 2015-11-27 2023-01-20 5768 ENSG00000116260 OTTHUMG00000035256 uc001gnz.4 U97276 NM_002826 "CCDS1337|CCDS30950" O00391 "9878249|8396966|12176051" MGI:1330818 RGD:68957 603120 1.8.3.2 HGNC:9756 "ENST00000367602.8|NM_002826.5" HGNC:30249 QSOX2 quiescin sulfhydryl oxidase 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "SOXN|DKFZp762A2013" thiol oxidase 2 QSCN6L1 "quiescin Q6-like 1|quiescin Q6 sulfhydryl oxidase 2" 2004-01-06 2007-04-23 2015-11-27 2023-01-20 169714 ENSG00000165661 OTTHUMG00000020923 uc010nbi.4 AJ318051 NM_181701 CCDS35178 Q6ZRP7 12176051 MGI:2387194 RGD:1584720 612860 1.8.3.2 HGNC:30249 "ENST00000358701.10|NM_181701.4" HGNC:23797 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 TGT tRNA-guanine transglycosylase queuine tRNA-ribosyltransferase 1 2003-12-10 2016-02-23 2023-01-20 81890 ENSG00000213339 OTTHUMG00000180588 uc002mpr.4 AF302783 NM_031209 CCDS12248 Q9BXR0 20354154 MGI:1931441 RGD:620996 609615 2.4.2.29 HGNC:23797 "ENST00000250237.10|NM_031209.3" HGNC:39179 QTRT1P1 queuine tRNA-ribosyltransferase catalytic subunit 1 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 queuine tRNA-ribosyltransferase 1 pseudogene 1 2010-11-16 2016-02-23 2016-02-23 100420656 ENSG00000270524 OTTHUMG00000184984 NG_026873 PGOHUM00000241955 HGNC:39179 -HGNC:25771 QTRT2 queuine tRNA-ribosyltransferase accessory subunit 2 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 FLJ12960 QTRTD1 queuine tRNA-ribosyltransferase domain containing 1 2003-12-18 2016-02-23 2016-02-23 2023-01-20 79691 ENSG00000151576 OTTHUMG00000159336 uc003eay.5 AK023022 NM_024638 "CCDS33828|CCDS58845|CCDS58844|CCDS58846" Q9H974 "19414587|20354154" MGI:1922194 RGD:1310054 HGNC:25771 "ENST00000281273.8|NM_024638.4" +HGNC:25771 QTRT2 queuine tRNA-ribosyltransferase accessory subunit 2 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 FLJ12960 QTRTD1 queuine tRNA-ribosyltransferase domain containing 1 2003-12-18 2016-02-23 2016-02-23 2023-01-20 79691 ENSG00000151576 OTTHUMG00000159336 uc003eay.5 AK023022 NM_024638 "CCDS33828|CCDS58844|CCDS58845|CCDS58846" Q9H974 "19414587|20354154" MGI:1922194 RGD:1310054 HGNC:25771 "ENST00000281273.8|NM_024638.4" HGNC:27329 R3HCC1 R3H domain and coiled-coil containing 1 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 DKFZp564N123 2005-09-02 2005-11-20 2023-01-20 203069 ENSG00000104679 OTTHUMG00000163786 uc003xdf.4 NM_001136108 "CCDS78317|CCDS47826" Q9Y3T6 12477932 MGI:1919093 RGD:1311790 HGNC:27329 "ENST00000265806.12|NM_001136108.3" -HGNC:23512 R3HCC1L R3H domain and coiled-coil containing 1 like protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "GIDRP86|PSORT" C10orf28 "chromosome 10 open reading frame 28|R3H domain and coiled-coil containing 1-like" 2003-11-21 2012-05-23 2015-12-04 2023-01-20 27291 ENSG00000166024 OTTHUMG00000018873 uc009xvx.4 AF525304 NM_014472 "CCDS73178|CCDS58093|CCDS31267" Q7Z5L2 MGI:1196316 RGD:1307934 HGNC:23512 "ENST00000298999.8|NM_001351015.2" -HGNC:9757 R3HDM1 R3H domain containing 1 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 KIAA0029 R3HDM R3H domain (binds single-stranded nucleic acids) containing MicroRNA protein coding host genes 1691 2000-08-11 2005-09-02 2005-09-02 2023-01-20 23518 ENSG00000048991 OTTHUMG00000131740 uc002tuo.5 D21852 NM_015361 "CCDS63024|CCDS63026|CCDS2177|CCDS63025|CCDS92870" Q15032 7584026 MGI:2448514 RGD:1307497 619474 HGNC:9757 "ENST00000683871.1|NM_001378107.1" -HGNC:29167 R3HDM2 R3H domain containing 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 KIAA1002 2006-02-01 2023-01-20 22864 ENSG00000179912 OTTHUMG00000171568 uc001sns.3 AB023219 NM_014925 "CCDS91709|CCDS81703|CCDS81704|CCDS8937" Q9Y2K5 MGI:1919000 RGD:1310066 619886 HGNC:29167 "ENST00000402412.6|NM_001394031.1" -HGNC:55457 R3HDM2-DT R3HDM2 divergent transcript non-coding RNA RNA, long non-coding Approved 12q13.3 12q13.3 Divergent transcripts 1990 2021-01-20 2021-01-20 120766140 ENSG00000258001 +HGNC:23512 R3HCC1L R3H domain and coiled-coil containing 1 like protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "GIDRP86|PSORT" C10orf28 "chromosome 10 open reading frame 28|R3H domain and coiled-coil containing 1-like" 2003-11-21 2012-05-23 2015-12-04 2023-01-20 27291 ENSG00000166024 OTTHUMG00000018873 uc009xvx.4 AF525304 NM_014472 "CCDS73178|CCDS31267|CCDS58093" Q7Z5L2 MGI:1196316 RGD:1307934 HGNC:23512 "ENST00000298999.8|NM_001351015.2" +HGNC:9757 R3HDM1 R3H domain containing 1 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 KIAA0029 R3HDM R3H domain (binds single-stranded nucleic acids) containing MicroRNA protein coding host genes 1691 2000-08-11 2005-09-02 2005-09-02 2023-01-20 23518 ENSG00000048991 OTTHUMG00000131740 uc002tuo.5 D21852 NM_015361 "CCDS63024|CCDS92870|CCDS63026|CCDS63025|CCDS2177" Q15032 7584026 MGI:2448514 RGD:1307497 619474 HGNC:9757 "ENST00000683871.1|NM_001378107.1" +HGNC:29167 R3HDM2 R3H domain containing 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 KIAA1002 2006-02-01 2023-01-20 22864 ENSG00000179912 OTTHUMG00000171568 uc001sns.3 AB023219 NM_014925 "CCDS91709|CCDS8937|CCDS81703|CCDS81704" Q9Y2K5 MGI:1919000 RGD:1310066 619886 HGNC:29167 "ENST00000402412.6|NM_001394031.1" +HGNC:55457 R3HDM2-DT R3HDM2 divergent transcript non-coding RNA RNA, long non-coding Approved 12q13.3 12q13.3 Divergent transcripts 1990 2021-01-20 2021-01-20 120766140 ENSG00000258001 NR_185976 HGNC:44056 R3HDM2P1 R3H domain containing 2 pseudogene 1 pseudogene pseudogene Approved 4q28.3 04q28.3 2012-05-30 2014-11-19 100419742 ENSG00000248735 OTTHUMG00000161300 NG_025254 PGOHUM00000246082 HGNC:44056 HGNC:44057 R3HDM2P2 R3H domain containing 2 pseudogene 2 pseudogene pseudogene Approved 6q16.3 06q16.3 2012-05-30 2014-11-19 100129694 ENSG00000216817 OTTHUMG00000015285 NG_022319 PGOHUM00000243310 HGNC:44057 HGNC:28270 R3HDM4 R3H domain containing 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC16353 C19orf22 chromosome 19 open reading frame 22 2004-03-16 2011-11-23 2011-11-23 2023-01-20 91300 ENSG00000198858 OTTHUMG00000181899 uc002lqg.3 BC012775 NM_138774 CCDS12048 Q96D70 12477932 MGI:1924814 RGD:1307067 HGNC:28270 "ENST00000361574.10|NM_138774.4" HGNC:16249 R3HDML R3H domain containing like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ881L22.3 "R3H domain (binds single-stranded nucleic acids) containing-like|R3H domain containing-like" CAP superfamily 1356 2005-02-14 2016-04-12 2023-01-20 140902 ENSG00000101074 OTTHUMG00000032524 uc002xls.3 BC107048 NM_178491 CCDS13329 Q9H3Y0 MGI:3650937 RGD:1305296 HGNC:16249 "ENST00000217043.4|NM_178491.4" HGNC:55830 R3HDML-AS1 R3HDML antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 RP5-881L22.5 Antisense RNAs 1987 2021-08-02 2022-12-19 105372629 ENSG00000226812 NR_184036 36438707 -HGNC:9758 RAB1A RAB1A, member RAS oncogene family protein-coding gene gene with protein product Approved 2p14 02p14 YPT1 Rab GTPase YPT1 homolog (yeast) RAB1 RAB, member RAS oncogene GTPases 388 1990-01-22 2002-03-17 2023-01-20 5861 ENSG00000138069 OTTHUMG00000152725 uc002sdm.4 M28209 NM_004161 "CCDS46305|CCDS46306" P62820 2501306 MGI:97842 RGD:619736 179508 HGNC:9758 "ENST00000409784.8|NM_004161.5" +HGNC:9758 RAB1A RAB1A, member RAS oncogene family protein-coding gene gene with protein product Approved 2p14 02p14 YPT1 Rab GTPase YPT1 homolog (yeast) RAB1 RAB, member RAS oncogene GTPases 388 1990-01-22 2002-03-17 2023-01-20 5861 ENSG00000138069 OTTHUMG00000152725 uc002sdm.4 M28209 NM_004161 "CCDS46306|CCDS46305" P62820 2501306 MGI:97842 RGD:619736 179508 HGNC:9758 "ENST00000409784.8|NM_004161.5" HGNC:54644 RAB1AP1 RAB1A pseudogene 1 pseudogene pseudogene Approved 2q32.2 02q32.2 2019-11-06 2019-11-06 100420571 ENSG00000229023 NG_023644 HGNC:54645 RAB1AP2 RAB1A pseudogene 2 pseudogene pseudogene Approved 6q14.3 06q14.3 2019-11-06 2019-11-06 643916 ENSG00000217272 NG_022314 HGNC:18370 RAB1B RAB1B, member RAS oncogene family protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "RAB, member RAS oncogene GTPases|Small nucleolar RNA protein coding host genes" "388|1835" 2002-03-14 2023-01-20 81876 ENSG00000174903 OTTHUMG00000166916 uc001ohf.4 AJ245875 NM_030981 CCDS31613 Q9H0U4 9030196 MGI:1923558 RGD:1642882 612565 HGNC:18370 "ENST00000311481.11|NM_030981.3" HGNC:23683 RAB1C RAB1C, member RAS oncogene family pseudogene pseudogene pseudogene Approved 9p13.2 09p13.2 RAB1C, member RAS oncogene family RAB, member RAS oncogene GTPases 388 2005-12-22 2007-08-10 2016-10-05 441400 ENSG00000233111 OTTHUMG00000019925 NG_005395 Q92928 HGNC:23683 -HGNC:9763 RAB2A RAB2A, member RAS oncogene family protein-coding gene gene with protein product Approved 8q12.1-q12.2 08q12.1-q12.2 RAB2 RAB2, member RAS oncogene family RAB, member RAS oncogene GTPases 388 1990-01-22 2007-01-15 2007-01-15 2023-01-20 5862 ENSG00000104388 OTTHUMG00000134298 uc003xud.3 NM_001242644 "CCDS6175|CCDS56537" P61019 MGI:1928750 RGD:68323 179509 HGNC:9763 "ENST00000262646.12|NM_002865.3" +HGNC:9763 RAB2A RAB2A, member RAS oncogene family protein-coding gene gene with protein product Approved 8q12.1-q12.2 08q12.1-q12.2 RAB2 RAB2, member RAS oncogene family RAB, member RAS oncogene GTPases 388 1990-01-22 2007-01-15 2007-01-15 2023-01-20 5862 ENSG00000104388 OTTHUMG00000134298 uc003xud.3 NM_001242644 "CCDS56537|CCDS6175" P61019 MGI:1928750 RGD:68323 179509 HGNC:9763 "ENST00000262646.12|NM_002865.3" HGNC:20246 RAB2B RAB2B, member RAS oncogene family protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ14824 RAB, member RAS oncogene GTPases 388 2003-01-14 2023-01-20 84932 ENSG00000129472 OTTHUMG00000029693 uc010tlt.2 AK027730 NM_001163380 CCDS9570 Q8WUD1 12376746 MGI:1923588 RGD:1309117 607466 HGNC:20246 "ENST00000397762.6|NM_032846.4" HGNC:9777 RAB3A RAB3A, member RAS oncogene family protein-coding gene gene with protein product Approved 19p13.11 19p13.11 RAS-associated protein RAB3A RAB, member RAS oncogene GTPases 388 1989-06-30 2023-01-20 5864 ENSG00000105649 OTTHUMG00000137378 uc002nie.3 NM_002866 CCDS12372 P20336 "2687157|7532276" MGI:97843 RGD:3528 179490 HGNC:9777 "ENST00000222256.9|NM_002866.5" HGNC:9778 RAB3B RAB3B, member RAS oncogene family protein-coding gene gene with protein product Approved 1p32.3 01p32.3 RAB, member RAS oncogene GTPases 388 1989-06-30 2023-01-20 5865 ENSG00000169213 OTTHUMG00000008627 uc001cth.3 BC005035 NM_002867 CCDS560 P20337 MGI:1917158 RGD:620922 179510 HGNC:9778 "ENST00000371655.4|NM_002867.4" @@ -27444,21 +27447,21 @@ HGNC:30269 RAB3C RAB3C, member RAS oncogene family protein-coding gene gene with HGNC:9779 RAB3D RAB3D, member RAS oncogene family protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "RAB16|D2-2|RAD3D" "Rab3D upregulated with myeloid differentiation|glioblastoma overexpressed" GOV RAB, member RAS oncogene GTPases 388 1999-06-02 2023-01-20 9545 ENSG00000105514 OTTHUMG00000180835 uc060tqf.1 AF081353 NM_004283 CCDS12257 O95716 "10023084|10072586" MGI:97844 RGD:620924 604350 HGNC:9779 "ENST00000222120.8|NM_004283.4" HGNC:17063 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "RAB3GAP|KIAA0066|RAB3GAP130|WARBM1" RAB3 GTPase activating protein subunit 1 (catalytic) 2005-08-23 2015-11-18 2023-01-20 22930 ENSG00000115839 OTTHUMG00000154889 uc002tuj.4 D31886 NM_012233 "CCDS54402|CCDS33294" Q15042 "9030515|15696165" MGI:2445001 RGD:1306487 602536 118194 HGNC:17063 "ENST00000264158.13|NM_012233.3" HGNC:17063 HGNC:17168 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 protein-coding gene gene with protein product Approved 1q41 01q41 "RAB3-GAP150|KIAA0839|DKFZP434D245|SPG69" RAB3 GTPase activating protein subunit 2 (non-catalytic) "MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1691|1835" 2005-08-23 2015-11-18 2023-01-20 25782 ENSG00000118873 OTTHUMG00000037139 uc057pnr.1 AB020646 NM_012414 CCDS31028 Q9H2M9 "15696165|16532399|24482476" MGI:1916043 RGD:1311518 609275 118200 HGNC:17168 "ENST00000358951.7|NM_012414.4" HGNC:17168 -HGNC:9780 RAB3IL1 RAB3A interacting protein like 1 protein-coding gene gene with protein product Approved 11q12.2-q12.3 11q12.2-q12.3 GRAB guanine nucleotide exchange factor for Rab3A RAB3A interacting protein (rabin3)-like 1 1998-07-30 2016-04-26 2023-01-20 5866 ENSG00000167994 OTTHUMG00000167524 uc001nso.5 AF084557 NM_013401 "CCDS60809|CCDS8014" Q8TBN0 11516400 MGI:1922010 RGD:619764 HGNC:9780 "ENST00000394836.7|NM_013401.4" -HGNC:16508 RAB3IP RAB3A interacting protein protein-coding gene gene with protein product Approved 12q15 12q15 "RABIN3|FLJ22548|RABIN8" rabin3 2001-11-12 2013-01-22 2023-03-15 117177 ENSG00000127328 OTTHUMG00000169437 uc001svp.4 NM_022456 "CCDS41811|CCDS8996|CCDS8993|CCDS8995|CCDS44942" Q96QF0 12221131 MGI:105933 RGD:620650 608686 HGNC:16508 "ENST00000247833.12|NM_022456.5" -HGNC:9781 RAB4A RAB4A, member RAS oncogene family protein-coding gene gene with protein product Approved 1q42.13 01q42.13 HRES-1/RAB4 RAB4 RAB, member RAS oncogene GTPases 388 1989-09-11 2002-02-28 2023-01-20 5867 ENSG00000168118 OTTHUMG00000037627 uc001hth.5 BC004309 NM_004578 "CCDS31050|CCDS73046" P20338 MGI:105069 RGD:3529 179511 HGNC:9781 "ENST00000366690.5|NM_004578.4" +HGNC:9780 RAB3IL1 RAB3A interacting protein like 1 protein-coding gene gene with protein product Approved 11q12.2-q12.3 11q12.2-q12.3 GRAB guanine nucleotide exchange factor for Rab3A RAB3A interacting protein (rabin3)-like 1 1998-07-30 2016-04-26 2023-01-20 5866 ENSG00000167994 OTTHUMG00000167524 uc001nso.5 AF084557 NM_013401 "CCDS8014|CCDS60809" Q8TBN0 11516400 MGI:1922010 RGD:619764 HGNC:9780 "ENST00000394836.7|NM_013401.4" +HGNC:16508 RAB3IP RAB3A interacting protein protein-coding gene gene with protein product Approved 12q15 12q15 "RABIN3|FLJ22548|RABIN8" rabin3 2001-11-12 2013-01-22 2023-03-15 117177 ENSG00000127328 OTTHUMG00000169437 uc001svp.4 NM_022456 "CCDS41811|CCDS8996|CCDS44942|CCDS8993|CCDS8995" Q96QF0 12221131 MGI:105933 RGD:620650 608686 HGNC:16508 "ENST00000247833.12|NM_022456.5" +HGNC:9781 RAB4A RAB4A, member RAS oncogene family protein-coding gene gene with protein product Approved 1q42.13 01q42.13 HRES-1/RAB4 RAB4 RAB, member RAS oncogene GTPases 388 1989-09-11 2002-02-28 2023-01-20 5867 ENSG00000168118 OTTHUMG00000037627 uc001hth.5 BC004309 NM_004578 "CCDS73046|CCDS31050" P20338 MGI:105069 RGD:3529 179511 HGNC:9781 "ENST00000366690.5|NM_004578.4" HGNC:55934 RAB4A-AS1 RAB4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Antisense RNAs 1987 2021-11-08 2021-11-08 105373159 ENSG00000177788 NR_149312 HGNC:9782 RAB4B RAB4B, member RAS oncogene family protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ78649|MGC52123" "ras-related GTP-binding protein 4b|small GTP binding protein RAB4B" RAB, member RAS oncogene GTPases 388 2000-05-31 2023-01-20 53916 ENSG00000167578 OTTHUMG00000182694 uc002opd.3 AF165522 NM_016154 CCDS33030 P61018 MGI:105071 RGD:620931 612945 HGNC:9782 "ENST00000357052.8|NM_016154.5" HGNC:44465 RAB4B-EGLN2 RAB4B-EGLN2 readthrough (NMD candidate) other readthrough Approved 19q13.2 19q13.2 RERT-lncRNA RAB4B-EGLN2 readthrough long non-coding RNA 2012-10-10 2013-05-09 2016-11-25 100529264 ENSG00000171570 OTTHUMG00000182702 uc060yxf.1 AK291385 NR_037791 23026137 rab4b-egln2 HGNC:44465 HGNC:9783 RAB5A RAB5A, member RAS oncogene family protein-coding gene gene with protein product Approved 3p24.3 03p24.3 RAS-associated protein RAB5A RAB5 RAB, member RAS oncogene GTPases 388 1990-01-22 2023-01-20 5868 ENSG00000144566 OTTHUMG00000129889 uc003cbn.4 NM_004162 "CCDS77710|CCDS2633" P20339 1999336 MGI:105926 RGD:620936 179512 HGNC:9783 "ENST00000273047.9|NM_004162.5" -HGNC:9784 RAB5B RAB5B, member RAS oncogene family protein-coding gene gene with protein product Approved 12q13.2 12q13.2 RAB, member RAS oncogene GTPases 388 1994-08-30 2023-01-20 5869 ENSG00000111540 OTTHUMG00000169682 uc001siw.3 NM_001252036 "CCDS8900|CCDS58244" P61020 "1541686|10403367" MGI:105938 RGD:1306489 179514 HGNC:9784 "ENST00000360299.10|NM_002868.4" -HGNC:9785 RAB5C RAB5C, member RAS oncogene family protein-coding gene gene with protein product Approved 17q21.2 17q21.2 RAB5CL "RAB, member of RAS oncogene family-like|RAB5C, member of RAS oncogene family" RABL RAB, member RAS oncogene GTPases 388 1999-10-04 2023-01-20 5878 ENSG00000108774 OTTHUMG00000169703 uc060fhb.1 U18420 NM_004583 "CCDS58551|CCDS11419" P51148 8646882 MGI:105306 RGD:1307095 604037 HGNC:9785 "ENST00000346213.9|NM_004583.4" +HGNC:9784 RAB5B RAB5B, member RAS oncogene family protein-coding gene gene with protein product Approved 12q13.2 12q13.2 RAB, member RAS oncogene GTPases 388 1994-08-30 2023-01-20 5869 ENSG00000111540 OTTHUMG00000169682 uc001siw.3 NM_001252036 "CCDS58244|CCDS8900" P61020 "1541686|10403367" MGI:105938 RGD:1306489 179514 HGNC:9784 "ENST00000360299.10|NM_002868.4" +HGNC:9785 RAB5C RAB5C, member RAS oncogene family protein-coding gene gene with protein product Approved 17q21.2 17q21.2 RAB5CL "RAB, member of RAS oncogene family-like|RAB5C, member of RAS oncogene family" RABL RAB, member RAS oncogene GTPases 388 1999-10-04 2023-01-20 5878 ENSG00000108774 OTTHUMG00000169703 uc060fhb.1 U18420 NM_004583 "CCDS11419|CCDS58551" P51148 8646882 MGI:105306 RGD:1307095 604037 HGNC:9785 "ENST00000346213.9|NM_004583.4" HGNC:55289 RAB5C-AS1 RAB5C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 Antisense RNAs 1987 2020-10-14 2020-10-14 105371781 ENSG00000267658 XR_001752888 HGNC:45104 RAB5CP1 RAB5C, member RAS oncogene family pseudogene 1 pseudogene pseudogene Approved 10q22.2 10q22.2 2013-02-15 2013-02-15 100420734 ENSG00000213731 OTTHUMG00000018501 NG_025447 PGOHUM00000261087 HGNC:45104 HGNC:45106 RAB5CP2 RAB5C, member RAS oncogene family pseudogene 2 pseudogene pseudogene Approved 5q14.3 05q14.3 2013-02-15 2013-02-15 133789 ENSG00000251356 OTTHUMG00000162620 NG_021889 PGOHUM00000261413 HGNC:45106 -HGNC:15870 RAB5IF RAB5 interacting factor protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "PNAS-11|RIP5|RCAF1|OPTI" "respirasome complex assembly factor 1|obligate partner of TMCO1 insertase" C20orf24 chromosome 20 open reading frame 24 2001-06-21 2018-02-16 2018-02-16 2023-03-15 55969 ENSG00000101084 OTTHUMG00000032384 uc002xfq.3 AF112213 NM_018840 "CCDS13280|CCDS56190|CCDS13279" Q9BUV8 "8824393|19526728|31536960|30292820|36261522" MGI:1914638 RGD:1307752 619960 HGNC:15870 "ENST00000344795.8|NM_018840.5" -HGNC:9786 RAB6A RAB6A, member RAS oncogene family protein-coding gene gene with protein product Approved 11q13.4 11q13.4 RAB6 RAB, member RAS oncogene GTPases 388 1990-01-22 2023-01-20 5870 ENSG00000175582 OTTHUMG00000134308 uc001oue.4 AF130986 NM_001243718 "CCDS58156|CCDS8224|CCDS8223|CCDS58155" P20340 MGI:894313 RGD:619737 179513 HGNC:9786 "ENST00000336083.8|NM_198896.2" -HGNC:14902 RAB6B RAB6B, member RAS oncogene family protein-coding gene gene with protein product Approved 3q22.1 03q22.1 RAB, member RAS oncogene GTPases 388 2001-03-13 2023-01-20 51560 ENSG00000154917 OTTHUMG00000159749 uc003epy.4 AF166492 NM_001363953 "CCDS3082|CCDS87137" Q9NRW1 MGI:107283 RGD:1309958 615852 HGNC:14902 "ENST00000285208.9|NM_016577.4" +HGNC:15870 RAB5IF RAB5 interacting factor protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "PNAS-11|RIP5|RCAF1|OPTI" "respirasome complex assembly factor 1|obligate partner of TMCO1 insertase" C20orf24 chromosome 20 open reading frame 24 2001-06-21 2018-02-16 2018-02-16 2023-03-15 55969 ENSG00000101084 OTTHUMG00000032384 uc002xfq.3 AF112213 NM_018840 "CCDS13279|CCDS13280|CCDS56190" Q9BUV8 "8824393|19526728|31536960|30292820|36261522" MGI:1914638 RGD:1307752 619960 HGNC:15870 "ENST00000344795.8|NM_018840.5" +HGNC:9786 RAB6A RAB6A, member RAS oncogene family protein-coding gene gene with protein product Approved 11q13.4 11q13.4 RAB6 RAB, member RAS oncogene GTPases 388 1990-01-22 2023-01-20 5870 ENSG00000175582 OTTHUMG00000134308 uc001oue.4 AF130986 NM_001243718 "CCDS8223|CCDS8224|CCDS58155|CCDS58156" P20340 MGI:894313 RGD:619737 179513 HGNC:9786 "ENST00000336083.8|NM_198896.2" +HGNC:14902 RAB6B RAB6B, member RAS oncogene family protein-coding gene gene with protein product Approved 3q22.1 03q22.1 RAB, member RAS oncogene GTPases 388 2001-03-13 2023-01-20 51560 ENSG00000154917 OTTHUMG00000159749 uc003epy.4 AF166492 NM_001363953 "CCDS87137|CCDS3082" Q9NRW1 MGI:107283 RGD:1309958 615852 HGNC:14902 "ENST00000285208.9|NM_016577.4" HGNC:16525 RAB6C RAB6C, member RAS oncogene family protein-coding gene gene with protein product Approved 2q21.1 02q21.1 WTH3 RAB, member RAS oncogene GTPases 388 2001-09-14 2023-01-20 84084 ENSG00000222014 OTTHUMG00000153487 uc002tpx.2 AF124200 NM_032144 CCDS46408 Q9H0N0 "11054569|17426708" 612909 HGNC:16525 "ENST00000410061.4|NM_032144.3" HGNC:49278 RAB6C-AS1 RAB6C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 Antisense RNAs 1987 2013-10-15 2013-10-15 100131320 ENSG00000225449 OTTHUMG00000153499 NR_036537 HGNC:49278 HGNC:30272 RAB6D RAB6D, member RAS oncogene family protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "RAB6CL|WTH3DI" 2017-10-17 2023-01-20 150786 ENSG00000233087 OTTHUMG00000153556 NM_001077637 CCDS82514 Q53S08 9847074 HGNC:30272 "ENST00000623617.3|NM_001077637.3" @@ -27480,19 +27483,19 @@ HGNC:45188 RAB11AP1 RAB11A, member RAS oncogene family pseudogene 1 pseudogene p HGNC:45189 RAB11AP2 RAB11A, member RAS oncogene family pseudogene 2 pseudogene pseudogene Approved 12q14.3 12q14.3 2013-03-05 2013-03-05 106480447 ENSG00000255976 OTTHUMG00000169050 NG_043433 PGOHUM00000239504 HGNC:45189 HGNC:9761 RAB11B RAB11B, member RAS oncogene family protein-coding gene gene with protein product Approved 19p13.2 19p13.2 H-YPT3 RAB, member RAS oncogene GTPases 388 1999-02-23 2023-01-20 9230 ENSG00000185236 OTTHUMG00000182278 uc002mju.5 X79780 NM_004218 CCDS12201 Q15907 7811277 MGI:99425 RGD:68369 604198 HGNC:9761 "ENST00000328024.11|NM_004218.4" HGNC:9761 HGNC:44178 RAB11B-AS1 RAB11B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 MIR4999HG MIR4999 host gene RAB11B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2018-09-07 100507567 ENSG00000269386 OTTHUMG00000182274 uc002mjt.5 BC014506 NR_038237 29928484 MGI:4936885 RAB11B-AS1 HGNC:44178 -HGNC:30265 RAB11FIP1 RAB11 family interacting protein 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "RCP|FLJ22622|FLJ22524|Rab11-FIP1" RAB11 family interacting protein 1 (class I) "C2 domain containing|RAB11 binding domain containing" "823|1623" 2004-07-22 2016-04-29 2023-03-15 80223 ENSG00000156675 OTTHUMG00000164026 uc003xkn.3 AK092296 NM_025151 "CCDS34881|CCDS34882" Q6WKZ4 "11786538|11495908" MGI:1923017 RGD:1562965 608737 HGNC:30265 "ENST00000330843.9|NM_001002814.3" +HGNC:30265 RAB11FIP1 RAB11 family interacting protein 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "RCP|FLJ22622|FLJ22524|Rab11-FIP1" RAB11 family interacting protein 1 (class I) "C2 domain containing|RAB11 binding domain containing" "823|1623" 2004-07-22 2016-04-29 2023-03-15 80223 ENSG00000156675 OTTHUMG00000164026 uc003xkn.3 AK092296 NM_025151 "CCDS34882|CCDS34881" Q6WKZ4 "11786538|11495908" MGI:1923017 RGD:1562965 608737 HGNC:30265 "ENST00000330843.9|NM_001002814.3" HGNC:42366 RAB11FIP1P1 RAB11 family interacting protein 1 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 RAB11 family interacting protein 1 (class I) pseudogene 1 2011-07-05 2016-04-29 2016-04-29 646080 ENSG00000228492 OTTHUMG00000021849 NG_007008 PGOHUM00000257272 HGNC:42366 -HGNC:29152 RAB11FIP2 RAB11 family interacting protein 2 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "KIAA0941|nRip11|Rab11-FIP2" RAB11 family interacting protein 2 (class I) "C2 domain containing|RAB11 binding domain containing" "823|1623" 2004-07-22 2016-04-29 2023-01-20 22841 ENSG00000107560 OTTHUMG00000019128 uc001ldj.2 AY037299 NM_014904 "CCDS7602|CCDS81512" Q7L804 "11994279|10231032" MGI:1922248 RGD:1308538 608599 HGNC:29152 "ENST00000355624.8|NM_014904.3" -HGNC:17224 RAB11FIP3 RAB11 family interacting protein 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA0665|Rab11-FIP3|eferin" arfophilin-1 RAB11 family interacting protein 3 (class II) "EF-hand domain containing|RAB11 binding domain containing" "863|1623" 2004-07-22 2016-04-29 2023-03-15 9727 ENSG00000090565 OTTHUMG00000047843 uc002chf.4 AB014565 NM_014700 "CCDS32351|CCDS92071" O75154 "9734811|11481332" MGI:2444431 RGD:1308952 608738 HGNC:17224 "ENST00000262305.9|NM_014700.4" -HGNC:30267 RAB11FIP4 RAB11 family interacting protein 4 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "RAB11-FIP4|KIAA1821|MGC11316|FLJ00131" RAB11 family interacting protein 4 (class II) "EF-hand domain containing|RAB11 binding domain containing|MicroRNA protein coding host genes" "863|1623|1691" 2004-07-22 2016-04-29 2023-01-20 84440 ENSG00000131242 OTTHUMG00000132787 uc032fao.2 AB058724 NM_032932 "CCDS76985|CCDS11267" Q86YS3 "11347906|11468690" MGI:2442920 RGD:1305063 611999 HGNC:30267 "ENST00000621161.5|NM_032932.6" -HGNC:24845 RAB11FIP5 RAB11 family interacting protein 5 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "GAF1|KIAA0857|RIP11|pp75" RAB11 family interacting protein 5 (class I) "C2 domain containing|RAB11 binding domain containing" "823|1623" 2004-07-22 2016-04-29 2023-01-20 26056 ENSG00000135631 OTTHUMG00000129779 uc002siu.4 AF334812 NM_015470 "CCDS92776|CCDS1923" Q9BXF6 "10048485|11163216" MGI:1098586 RGD:1592069 605536 HGNC:24845 "ENST00000486777.7|NM_001371272.1" +HGNC:29152 RAB11FIP2 RAB11 family interacting protein 2 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "KIAA0941|nRip11|Rab11-FIP2" RAB11 family interacting protein 2 (class I) "C2 domain containing|RAB11 binding domain containing" "823|1623" 2004-07-22 2016-04-29 2023-01-20 22841 ENSG00000107560 OTTHUMG00000019128 uc001ldj.2 AY037299 NM_014904 "CCDS81512|CCDS7602" Q7L804 "11994279|10231032" MGI:1922248 RGD:1308538 608599 HGNC:29152 "ENST00000355624.8|NM_014904.3" +HGNC:17224 RAB11FIP3 RAB11 family interacting protein 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA0665|Rab11-FIP3|eferin" arfophilin-1 RAB11 family interacting protein 3 (class II) "EF-hand domain containing|RAB11 binding domain containing" "863|1623" 2004-07-22 2016-04-29 2023-03-15 9727 ENSG00000090565 OTTHUMG00000047843 uc002chf.4 AB014565 NM_014700 "CCDS92071|CCDS32351" O75154 "9734811|11481332" MGI:2444431 RGD:1308952 608738 HGNC:17224 "ENST00000262305.9|NM_014700.4" +HGNC:30267 RAB11FIP4 RAB11 family interacting protein 4 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "RAB11-FIP4|KIAA1821|MGC11316|FLJ00131" RAB11 family interacting protein 4 (class II) "EF-hand domain containing|RAB11 binding domain containing|MicroRNA protein coding host genes" "863|1623|1691" 2004-07-22 2016-04-29 2023-01-20 84440 ENSG00000131242 OTTHUMG00000132787 uc032fao.2 AB058724 NM_032932 "CCDS11267|CCDS76985" Q86YS3 "11347906|11468690" MGI:2442920 RGD:1305063 611999 HGNC:30267 "ENST00000621161.5|NM_032932.6" +HGNC:24845 RAB11FIP5 RAB11 family interacting protein 5 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "GAF1|KIAA0857|RIP11|pp75" RAB11 family interacting protein 5 (class I) "C2 domain containing|RAB11 binding domain containing" "823|1623" 2004-07-22 2016-04-29 2023-01-20 26056 ENSG00000135631 OTTHUMG00000129779 uc002siu.4 AF334812 NM_015470 "CCDS1923|CCDS92776" Q9BXF6 "10048485|11163216" MGI:1098586 RGD:1592069 605536 HGNC:24845 "ENST00000486777.7|NM_001371272.1" HGNC:31332 RAB12 RAB12, member RAS oncogene family protein-coding gene gene with protein product Approved 18p11.22 18p11.22 RAB, member RAS oncogene GTPases 388 2005-02-09 2023-01-20 201475 ENSG00000206418 OTTHUMG00000178949 uc002knp.4 NM_001025300 CCDS42410 Q6IQ22 MGI:894284 RGD:3527 616448 HGNC:31332 "ENST00000649141.2|NM_001025300.3" -HGNC:9762 RAB13 RAB13, member RAS oncogene family protein-coding gene gene with protein product Approved 1q21.3 01q21.3 RAB, member RAS oncogene GTPases 388 1998-01-21 2023-01-20 5872 ENSG00000143545 OTTHUMG00000036589 uc001fdt.3 X75593 NM_002870 "CCDS1058|CCDS72921" P51153 8294494 MGI:1927232 RGD:620880 602672 HGNC:9762 "ENST00000368575.5|NM_002870.5" +HGNC:9762 RAB13 RAB13, member RAS oncogene family protein-coding gene gene with protein product Approved 1q21.3 01q21.3 RAB, member RAS oncogene GTPases 388 1998-01-21 2023-01-20 5872 ENSG00000143545 OTTHUMG00000036589 uc001fdt.3 X75593 NM_002870 "CCDS72921|CCDS1058" P51153 8294494 MGI:1927232 RGD:620880 602672 HGNC:9762 "ENST00000368575.5|NM_002870.5" HGNC:16524 RAB14 RAB14, member RAS oncogene family protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "FBP|RAB-14" "F protein-binding protein 1|bA165P4.3 (member RAS oncogene family)|small GTP binding protein RAB14" RAB, member RAS oncogene GTPases 388 2001-09-14 2023-01-20 51552 ENSG00000119396 OTTHUMG00000020582 uc004blc.4 AF152463 NM_016322 CCDS6827 P61106 "9792283|15004230" MGI:1915615 RGD:620881 612673 HGNC:16524 "ENST00000373840.9|NM_016322.4" -HGNC:20150 RAB15 RAB15, member RAS oncogene family protein-coding gene gene with protein product Approved 14q23.3 14q23.3 RAB, member RAS oncogene GTPases 388 2002-12-18 2012-02-28 2023-01-20 376267 ENSG00000139998 OTTHUMG00000142810 uc021rut.2 BC014511 NM_198686 "CCDS76691|CCDS81812|CCDS9768" P59190 11697911 MGI:1916865 RGD:735172 619547 HGNC:20150 "ENST00000533601.7|NM_001308154.2" +HGNC:20150 RAB15 RAB15, member RAS oncogene family protein-coding gene gene with protein product Approved 14q23.3 14q23.3 RAB, member RAS oncogene GTPases 388 2002-12-18 2012-02-28 2023-01-20 376267 ENSG00000139998 OTTHUMG00000142810 uc021rut.2 BC014511 NM_198686 "CCDS76691|CCDS9768|CCDS81812" P59190 11697911 MGI:1916865 RGD:735172 619547 HGNC:20150 "ENST00000533601.7|NM_001308154.2" HGNC:16523 RAB17 RAB17, member RAS oncogene family protein-coding gene gene with protein product Approved 2q37.3 02q37.3 RAB, member RAS oncogene GTPases 388 2001-09-14 2023-01-20 64284 ENSG00000124839 OTTHUMG00000133299 uc002vwz.3 AK022600 NM_022449 CCDS2520 Q9H0T7 9624171 MGI:104640 RGD:1562478 602206 HGNC:16523 "ENST00000264601.8|NM_022449.4" HGNC:56028 RAB17-DT RAB17 divergent transcript non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Divergent transcripts 1990 2021-12-03 2021-12-03 105373958 ENSG00000234949 XR_001739964 -HGNC:14244 RAB18 RAB18, member RAS oncogene family protein-coding gene gene with protein product Approved 10p12.1 10p12.1 RAB, member RAS oncogene GTPases 388 2000-12-12 2023-03-15 22931 ENSG00000099246 OTTHUMG00000017861 uc001itv.5 AJ277145 NM_021252 "CCDS91231|CCDS58073|CCDS7155|CCDS73081" Q9NP72 10648831 MGI:102790 RGD:1308905 602207 268016 HGNC:14244 "ENST00000356940.11|NM_021252.5" HGNC:14244 +HGNC:14244 RAB18 RAB18, member RAS oncogene family protein-coding gene gene with protein product Approved 10p12.1 10p12.1 RAB, member RAS oncogene GTPases 388 2000-12-12 2023-03-15 22931 ENSG00000099246 OTTHUMG00000017861 uc001itv.5 AJ277145 NM_021252 "CCDS73081|CCDS7155|CCDS91231|CCDS58073" Q9NP72 10648831 MGI:102790 RGD:1308905 602207 268016 HGNC:14244 "ENST00000356940.11|NM_021252.5" HGNC:14244 HGNC:19982 RAB19 RAB19, member RAS oncogene family protein-coding gene gene with protein product Approved 7q34 07q34 RAB19B RAB, member RAS oncogene GTPases 388 2007-07-31 2023-01-20 401409 ENSG00000146955 OTTHUMG00000157410 uc010lni.2 NM_001008749 CCDS34762 A4D1S5 MGI:103292 RGD:1565263 HGNC:19982 "ENST00000537763.6|NM_001008749.3" HGNC:18260 RAB20 RAB20, member RAS oncogene family protein-coding gene gene with protein product Approved 13q34 13q34 FLJ20429 RAB, member RAS oncogene GTPases 388 2002-02-19 2023-01-20 55647 ENSG00000139832 OTTHUMG00000017343 uc001vqy.4 AK000436 NM_017817 CCDS9512 Q9NX57 11697911 MGI:102789 RGD:1593487 HGNC:18260 "ENST00000267328.5|NM_017817.3" HGNC:18263 RAB21 RAB21, member RAS oncogene family protein-coding gene gene with protein product Approved 12q21.1 12q21.1 KIAA0118 RAB, member RAS oncogene GTPases 388 2002-02-19 2023-01-20 23011 ENSG00000080371 OTTHUMG00000169572 uc001swt.4 AF091035 NM_014999 CCDS9003 Q9UL25 "10887961|11697911|16754960" MGI:894308 RGD:1303150 612398 HGNC:18263 "ENST00000261263.5|NM_014999.4" @@ -27509,7 +27512,7 @@ HGNC:50381 RAB28P2 RAB28, member RAS oncogene family pseudogene 2 pseudogene pse HGNC:50382 RAB28P3 RAB28, member RAS oncogene family pseudogene 3 pseudogene pseudogene Approved 9p11.1 09p11.1 2014-04-24 2016-10-05 100132772 ENSG00000227353 OTTHUMG00000013227 NG_011917 PGOHUM00000236106 HGNC:50382 HGNC:51548 RAB28P4 RAB28, member RAS oncogene family pseudogene 4 pseudogene pseudogene Approved 9q21.11 09q21.11 2015-03-04 2015-03-04 100132871 ENSG00000276894 OTTHUMG00000188565 NG_011919 PGOHUM00000303916 HGNC:51548 HGNC:51547 RAB28P5 RAB28, member RAS oncogene family pseudogene 5 pseudogene pseudogene Approved Xq26.3 Xq26.3 2015-03-04 2015-03-04 100128416 ENSG00000225400 OTTHUMG00000022516 NG_023397 PGOHUM00000305354 HGNC:51547 -HGNC:9789 RAB29 RAB29, member RAS oncogene family protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RAB7L|RAB7L1" RAB7, member RAS oncogene family-like 1 RAB, member RAS oncogene GTPases 388 1999-01-11 2014-04-25 2014-04-25 2023-01-20 8934 ENSG00000117280 OTTHUMG00000035998 D84488 NM_003929 "CCDS1459|CCDS44302|CCDS44301" O14966 "9284931|22022256" MGI:2385107 RGD:620892 603949 470944 HGNC:9789 "ENST00000367139.8|NM_003929.3" +HGNC:9789 RAB29 RAB29, member RAS oncogene family protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RAB7L|RAB7L1" RAB7, member RAS oncogene family-like 1 RAB, member RAS oncogene GTPases 388 1999-01-11 2014-04-25 2014-04-25 2023-01-20 8934 ENSG00000117280 OTTHUMG00000035998 D84488 NM_003929 "CCDS44301|CCDS1459|CCDS44302" O14966 "9284931|22022256" MGI:2385107 RGD:620892 603949 470944 HGNC:9789 "ENST00000367139.8|NM_003929.3" HGNC:9770 RAB30 RAB30, member RAS oncogene family protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "RAB, member RAS oncogene GTPases|Small nucleolar RNA protein coding host genes" "388|1835" 2000-02-16 2023-01-20 27314 ENSG00000137502 OTTHUMG00000166973 uc001ozu.5 U57092 NM_014488 CCDS8264 Q15771 "8863739|9792283" MGI:1923235 RGD:1309507 605693 HGNC:9770 "ENST00000527633.6|NM_001286060.2" HGNC:48672 RAB30-DT RAB30 divergent transcript non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 RAB30-AS1 RAB30 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-06-06 2019-02-28 2019-02-28 2019-02-28 100506233 ENSG00000246067 OTTHUMG00000167010 NR_038903 RAB30-AS1 HGNC:48672 HGNC:9771 RAB31 RAB31, member RAS oncogene family protein-coding gene gene with protein product Approved 18p11.22 18p11.22 Rab22B RAB, member RAS oncogene GTPases 388 1999-08-20 2023-01-20 11031 ENSG00000168461 OTTHUMG00000178513 uc002kog.3 U59877 NM_006868 CCDS45826 Q13636 8863739 MGI:1914603 RGD:628598 605694 HGNC:9771 "ENST00000578921.6|NM_006868.4" @@ -27517,11 +27520,11 @@ HGNC:9772 RAB32 RAB32, member RAS oncogene family protein-coding gene gene with HGNC:9773 RAB33A RAB33A, member RAS oncogene family protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 RabS10 RAB, member RAS oncogene GTPases 388 1999-03-24 2023-01-20 9363 ENSG00000134594 OTTHUMG00000022391 uc004evl.4 D14889 NM_004794 CCDS14621 Q14088 "7688322|9512502" MGI:109493 RGD:1563280 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAB33A 300333 HGNC:9773 "ENST00000257017.5|NM_004794.3" HGNC:16075 RAB33B RAB33B, member RAS oncogene family protein-coding gene gene with protein product Approved 4q31.1 04q31.1 DKFZP434G099 RAB, member RAS oncogene GTPases 388 2001-09-14 2023-01-20 83452 ENSG00000172007 OTTHUMG00000133384 uc003ihv.4 AF350420 NM_031296 CCDS3747 Q9H082 MGI:1330805 RGD:1308353 605950 311424 HGNC:16075 "ENST00000305626.6|NM_031296.3" HGNC:16075 HGNC:55153 RAB33B-AS1 RAB33B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.1 04q31.1 Antisense RNAs 1987 2020-07-15 2020-11-11 107984036 ENSG00000273247 NR_159963 -HGNC:16519 RAB34 RAB34, member RAS oncogene family protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "RAB39|RAH|NARR" nine-amino acid residue-repeats RAB, member RAS oncogene GTPases 388 2001-09-14 2023-03-15 83871 ENSG00000109113 OTTHUMG00000132680 uc002hch.3 AF322067 NM_031934 "CCDS11240|CCDS82096|CCDS45636|CCDS58536" "P0DI83|Q9BZG1" "12446704|21586586" MGI:104606 RGD:1305058 610917 HGNC:16519 "ENST00000395245.9|NM_031934.6" +HGNC:16519 RAB34 RAB34, member RAS oncogene family protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "RAB39|RAH|NARR" nine-amino acid residue-repeats RAB, member RAS oncogene GTPases 388 2001-09-14 2023-03-15 83871 ENSG00000109113 OTTHUMG00000132680 uc002hch.3 AF322067 NM_031934 "CCDS58536|CCDS11240|CCDS45636|CCDS82096" "P0DI83|Q9BZG1" "12446704|21586586" MGI:104606 RGD:1305058 610917 HGNC:16519 "ENST00000395245.9|NM_031934.6" HGNC:9774 RAB35 RAB35, member RAS oncogene family protein-coding gene gene with protein product Approved 12q24.23 12q24.23 H-ray RAB, member RAS oncogene GTPases 388 1999-09-29 2023-01-20 11021 ENSG00000111737 OTTHUMG00000169159 uc001txm.2 X79781 NM_001167606 "CCDS53836|CCDS41846" Q15286 MGI:1924657 RGD:1306362 604199 HGNC:9774 "ENST00000229340.10|NM_006861.7" HGNC:56348 RAB35-AS1 RAB35 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.23 12q24.23 AC004812.2 Antisense RNAs 1987 2022-10-06 2022-10-06 127138862 ENSG00000277283 NR_182302 35844445 HGNC:9775 RAB36 RAB36, member RAS oncogene family protein-coding gene gene with protein product Approved 22q11.23 22q11.23 RAB, member RAS oncogene GTPases 388 1999-06-10 2023-01-20 9609 ENSG00000100228 OTTHUMG00000150601 uc002zwv.2 AB023061 NM_004914 CCDS13805 O95755 "9920784|10591208" MGI:1924127 RGD:1596098 605662 HGNC:9775 "ENST00000263116.8|NM_004914.5" -HGNC:30268 RAB37 RAB37, member RAS oncogene family protein-coding gene gene with protein product Approved 17q25.1 17q25.1 RAB, member RAS oncogene GTPases 388 2004-01-26 2023-01-20 326624 ENSG00000172794 OTTHUMG00000134282 uc010wrc.3 BC040547 NM_175738 "CCDS82198|CCDS11703|CCDS54162|CCDS32722" Q96AX2 10722846 MGI:1929945 RGD:2319982 609956 HGNC:30268 "ENST00000392613.10|NM_001006638.3" +HGNC:30268 RAB37 RAB37, member RAS oncogene family protein-coding gene gene with protein product Approved 17q25.1 17q25.1 RAB, member RAS oncogene GTPases 388 2004-01-26 2023-01-20 326624 ENSG00000172794 OTTHUMG00000134282 uc010wrc.3 BC040547 NM_175738 "CCDS54162|CCDS32722|CCDS82198|CCDS11703" Q96AX2 10722846 MGI:1929945 RGD:2319982 609956 HGNC:30268 "ENST00000392613.10|NM_001006638.3" HGNC:9776 RAB38 RAB38, member RAS oncogene family protein-coding gene gene with protein product Approved 11q14.2 11q14.2 NY-MEL-1 RAB, member RAS oncogene GTPases 388 1999-09-16 2023-01-20 23682 ENSG00000123892 OTTHUMG00000167288 uc001pcj.3 AF235022 NM_022337 CCDS8281 P57729 10910072 MGI:1919683 RGD:628752 606281 HGNC:9776 "ENST00000243662.11|NM_022337.3" HGNC:16521 RAB39A RAB39A, member RAS oncogene family protein-coding gene gene with protein product Approved 11q22.3 11q22.3 rab-related GTP-binding protein RAB39 RAB39, member RAS oncogene family RAB, member RAS oncogene GTPases 388 2001-09-14 2011-11-22 2011-11-22 2023-01-20 54734 ENSG00000179331 OTTHUMG00000166367 uc001pjt.4 X99962 NM_017516 CCDS8338 Q14964 9119394 MGI:2442855 RGD:1311286 619558 HGNC:16521 "ENST00000320578.3|NM_017516.3" HGNC:16499 RAB39B RAB39B, member RAS oncogene family protein-coding gene gene with protein product Approved Xq28 Xq28 "MRX72|WSN" "mental retardation, X-linked 72|Waisman syndrome" RAB, member RAS oncogene GTPases 388 2001-09-26 2023-01-20 116442 ENSG00000155961 OTTHUMG00000022659 uc004fne.5 AY052478 NM_171998 CCDS14766 Q96DA2 "12438742|20159109|25434005" MGI:1915040 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAB39B 300774 225332 HGNC:16499 "ENST00000369454.4|NM_171998.4" HGNC:16499 @@ -27530,7 +27533,7 @@ HGNC:25410 RAB40AL RAB40A like protein-coding gene gene with protein product App HGNC:18284 RAB40B RAB40B, member RAS oncogene family protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "SEC4L|RAR" "RAB, member RAS oncogene GTPases|MicroRNA protein coding host genes" "388|1691" 2002-02-22 2023-01-20 10966 ENSG00000141542 OTTHUMG00000177806 uc002kft.4 U05227 NM_006822 CCDS11816 Q12829 11697911 MGI:2183451 RGD:1305663 619550 HGNC:18284 "ENST00000571995.6|NM_006822.3" HGNC:18285 RAB40C RAB40C, member RAS oncogene family protein-coding gene gene with protein product Approved 16p13.3 16p13.3 RARL RASL8C RAS-like, family 8, member C RAB, member RAS oncogene GTPases 388 2002-02-22 2003-10-14 2023-01-20 57799 ENSG00000197562 OTTHUMG00000047854 uc021szt.2 Z84779 NM_021168 CCDS10413 Q96S21 "11697911|18485483" MGI:2183454 RGD:727914 619551 HGNC:18285 "ENST00000248139.8|NM_021168.5" HGNC:18293 RAB41 RAB41, member RAS oncogene family protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 RAB41, member RAS homolog family RAB, member RAS oncogene GTPases 388 2002-02-27 2006-04-28 2023-01-20 347517 ENSG00000147127 OTTHUMG00000021772 uc010nkv.3 NM_001032726 "CCDS35322|CCDS87756" Q5JT25 11697911 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAB41 HGNC:18293 "ENST00000374473.6|NM_001363807.1" -HGNC:28702 RAB42 RAB42, member RAS oncogene family protein-coding gene gene with protein product Approved 1p35.3 01p35.3 MGC45806 RAB42, member RAS homolog family RAB, member RAS oncogene GTPases 388 2005-09-05 2006-04-28 2023-01-20 115273 ENSG00000188060 OTTHUMG00000003656 uc001bqu.4 BC033175 NM_152304 "CCDS85943|CCDS325" Q8N4Z0 MGI:2441753 RGD:1593983 HGNC:28702 "ENST00000465518.3|NM_001193532.3" +HGNC:28702 RAB42 RAB42, member RAS oncogene family protein-coding gene gene with protein product Approved 1p35.3 01p35.3 MGC45806 RAB42, member RAS homolog family RAB, member RAS oncogene GTPases 388 2005-09-05 2006-04-28 2023-01-20 115273 ENSG00000188060 OTTHUMG00000003656 uc001bqu.4 BC033175 NM_152304 "CCDS325|CCDS85943" Q8N4Z0 MGI:2441753 RGD:1593983 HGNC:28702 "ENST00000465518.3|NM_001193532.3" HGNC:19799 RAB42P1 RAB42, member RAS oncogene family, pseudogene 1 pseudogene pseudogene Approved 14q32.11 14q32.11 "RAB42|RAB42P" "RAB42, member RAS homolog family|RAB42, member RAS homolog family, pseudogene|RAB42, member RAS oncogene family, pseudogene" 2003-01-13 2010-03-04 2010-03-04 2012-11-02 646996 ENSG00000230997 OTTHUMG00000171015 NG_009574 HGNC:19799 HGNC:19983 RAB43 RAB43, member RAS oncogene family protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "RAB41|RAB11B|ISY1" RAB, member RAS oncogene GTPases 388 2004-01-27 2023-01-20 339122 ENSG00000172780 OTTHUMG00000137364 uc021xds.1 AY166852 NM_198490 "CCDS56275|CCDS33850" Q86YS6 15018353 MGI:1917084 RGD:1565300 HGNC:19983 "ENST00000315150.10|NM_198490.3" HGNC:33153 RAB43P1 RAB43 pseudogene 1 pseudogene pseudogene Approved 16q11.2 16q11.2 RAB41P RAB43P RAB43 pseudogene 2006-10-16 2010-03-04 2010-03-04 2012-11-02 440375 ENSG00000259856 OTTHUMG00000175598 NG_005358 15018353 PGOHUM00000259069 HGNC:33153 @@ -27538,10 +27541,10 @@ HGNC:21068 RAB44 RAB44, member RAS oncogene family protein-coding gene gene with HGNC:9794 RABAC1 Rab acceptor 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PRA1|PRAF1|YIP3" "PRA1 domain family 1|prenylated Rab acceptor 1" Rab acceptor 1 (prenylated) YIP family 1144 2000-06-16 2016-03-14 2023-01-20 10567 ENSG00000105404 OTTHUMG00000182737 uc002osf.4 AJ133534 NM_006423 CCDS12593 Q9UI14 "10329441|10751420" MGI:1201692 RGD:621002 604925 HGNC:9794 "ENST00000222008.11|NM_006423.3" HGNC:17677 RABEP1 rabaptin, RAB GTPase binding effector protein 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "neurocrescin|RAB5EP|RABPT5|rabaptin-5" 2003-07-14 2023-01-20 9135 ENSG00000029725 OTTHUMG00000177870 uc032ery.2 AF098638 NM_004703 "CCDS42243|CCDS45592" Q15276 8521472 MGI:1860236 RGD:708568 RABEP1 603616 HGNC:17677 "ENST00000537505.6|NM_004703.6" HGNC:24817 RABEP2 rabaptin, RAB GTPase binding effector protein 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FRA|FLJ23282" Rabaptin-5beta 2004-05-26 2023-01-20 79874 ENSG00000177548 OTTHUMG00000176593 uc002drq.4 AK026935 NM_024816 CCDS42140 Q9H5N1 9524116 MGI:1917564 RGD:621416 611869 HGNC:24817 "ENST00000358201.9|NM_024816.3" -HGNC:16896 RABEPK Rab9 effector protein with kelch motifs protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "RAB9P40|bA65N13.1" 2005-06-24 2023-01-20 10244 ENSG00000136933 OTTHUMG00000020674 uc004bpi.4 BC000503 NM_005833 "CCDS6862|CCDS55341" Q7Z6M1 9230071 MGI:2139530 RGD:1310612 605962 HGNC:16896 "ENST00000373538.8|NM_005833.4" +HGNC:16896 RABEPK Rab9 effector protein with kelch motifs protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "RAB9P40|bA65N13.1" 2005-06-24 2023-01-20 10244 ENSG00000136933 OTTHUMG00000020674 uc004bpi.4 BC000503 NM_005833 "CCDS55341|CCDS6862" Q7Z6M1 9230071 MGI:2139530 RGD:1310612 605962 HGNC:16896 "ENST00000373538.8|NM_005833.4" HGNC:39791 RABEPKP1 Rab9 effector protein with kelch motifs pseudogene 1 pseudogene pseudogene Approved 13q21.33 13q21.33 2011-03-29 2011-03-29 100421226 ENSG00000225801 OTTHUMG00000017060 NG_024937 PGOHUM00000248626 HGNC:39791 HGNC:17155 RABGAP1 RAB GTPase activating protein 1 protein-coding gene gene with protein product Approved 9q33.2-q33.3 09q33.2-q33.3 "GAPCenA|TBC1D11" "rab6 GTPase activating protein (GAP and centrosome-associated)|TBC1 domain family, member 11" 2004-01-12 2023-01-20 23637 ENSG00000011454 OTTHUMG00000020633 uc011lzh.3 AJ011679 NM_012197 CCDS6848 Q9Y3P9 10202141 MGI:2385139 RGD:1304691 615882 HGNC:17155 "ENST00000373647.9|NM_012197.4" -HGNC:24663 RABGAP1L RAB GTPase activating protein 1 like protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "HHL|TBC1D18|KIAA0471|FLJ38519" 2004-08-20 2016-06-28 2023-01-20 9910 ENSG00000152061 OTTHUMG00000034899 uc001gjx.4 AF279778 NM_001243765 "CCDS58046|CCDS81407|CCDS1314|CCDS91112|CCDS55662|CCDS91115|CCDS41437|CCDS91110|CCDS91113|CCDS91111" "B7ZAP0|Q5R372" 10585558 MGI:1352507 RGD:1304620 609238 470946 HGNC:24663 "ENST00000681986.1|NM_001366446.1" +HGNC:24663 RABGAP1L RAB GTPase activating protein 1 like protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "HHL|TBC1D18|KIAA0471|FLJ38519" 2004-08-20 2016-06-28 2023-01-20 9910 ENSG00000152061 OTTHUMG00000034899 uc001gjx.4 AF279778 NM_001243765 "CCDS91113|CCDS91112|CCDS91110|CCDS91115|CCDS81407|CCDS55662|CCDS58046|CCDS1314|CCDS91111|CCDS41437" "B7ZAP0|Q5R372" 10585558 MGI:1352507 RGD:1304620 609238 470946 HGNC:24663 "ENST00000681986.1|NM_001366446.1" HGNC:41057 RABGAP1L-AS1 RABGAP1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 Antisense RNAs 1987 2020-03-19 2020-03-19 101928696 ENSG00000229531 OTTHUMG00000034940 NR_121196 HGNC:54296 RABGAP1L-DT RABGAP1L divergent transcript non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 Divergent transcripts 1990 2019-05-02 2019-05-02 102724601 ENSG00000227373 NR_121197 HGNC:54296 HGNC:41471 RABGAP1L-IT1 RABGAP1L intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 RABGAP1L intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 106480742 ENSG00000223525 OTTHUMG00000034938 uc057nls.1 RABGAP1L-IT1 @@ -27553,11 +27556,11 @@ HGNC:9795 RABGGTA Rab geranylgeranyltransferase subunit alpha protein-coding gen HGNC:9796 RABGGTB Rab geranylgeranyltransferase subunit beta protein-coding gene gene with protein product Approved 1p31.1 01p31.1 Small nucleolar RNA protein coding host genes 1835 1996-08-14 2018-04-23 2023-01-20 5876 ENSG00000137955 OTTHUMG00000009786 uc001dgy.3 U49245 NM_004582 CCDS669 P53611 "8706741|8954794" MGI:99537 RGD:3530 179080 HGNC:9796 "ENST00000319942.8|NM_004582.4" HGNC:56479 RABGGTBP1 RABGGTB pseudogene 1 pseudogene pseudogene Approved 3q13.2 03q13.2 2022-10-20 2022-10-20 101180897 ENSG00000240751 NG_033086 PGOHUM00000299536 HGNC:9797 RABIF RAB interacting factor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 mss4 RASGRF3 1998-05-14 2023-01-20 5877 ENSG00000183155 OTTHUMG00000041400 uc001gyl.4 S78873 NM_002871 CCDS1428 P47224 "9441742|7619808" MGI:2138605 RGD:1359331 603417 HGNC:9797 "ENST00000367262.4|NM_002871.5" -HGNC:9799 RABL2A RAB, member of RAS oncogene family like 2A protein-coding gene gene with protein product Approved 2q14.1 02q14.1 RAB like GTPases 394 1998-09-29 2017-02-21 2023-01-20 11159 ENSG00000144134 OTTHUMG00000047828 uc010flb.4 NM_001306158 "CCDS77455|CCDS2118|CCDS77454|CCDS77456" Q9UBK7 10444334 MGI:1915958 605412 HGNC:9799 "ENST00000683472.1|NM_001306158.2" -HGNC:9800 RABL2B RAB, member of RAS oncogene family like 2B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 RAB like GTPases 394 1998-09-29 2017-02-21 2023-01-20 11158 ENSG00000079974 OTTHUMG00000150156 uc062fos.1 NM_001003789 "CCDS14102|CCDS46738|CCDS33683" Q9UNT1 10444334 MGI:1915958 RGD:1306749 605413 HGNC:9800 "ENST00000691320.1|NM_001130919.3" -HGNC:18072 RABL3 RAB, member of RAS oncogene family like 3 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 MGC23920 RAB, member of RAS oncogene family-like 3 RAB like GTPases 394 2002-02-18 2016-04-04 2023-01-20 285282 ENSG00000144840 OTTHUMG00000159668 uc003edx.3 BC020832 NM_173825 "CCDS87127|CCDS3001" Q5HYI8 20596630 MGI:1914907 RGD:1306436 618542 HGNC:18072 "ENST00000273375.8|NM_173825.5" HGNC:18072 +HGNC:9799 RABL2A RAB, member of RAS oncogene family like 2A protein-coding gene gene with protein product Approved 2q14.1 02q14.1 RAB like GTPases 394 1998-09-29 2017-02-21 2023-01-20 11159 ENSG00000144134 OTTHUMG00000047828 uc010flb.4 NM_001306158 "CCDS77454|CCDS2118|CCDS77456|CCDS77455" Q9UBK7 10444334 MGI:1915958 605412 HGNC:9799 "ENST00000683472.1|NM_001306158.2" +HGNC:9800 RABL2B RAB, member of RAS oncogene family like 2B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 RAB like GTPases 394 1998-09-29 2017-02-21 2023-01-20 11158 ENSG00000079974 OTTHUMG00000150156 uc062fos.1 NM_001003789 "CCDS46738|CCDS14102|CCDS33683" Q9UNT1 10444334 MGI:1915958 RGD:1306749 605413 HGNC:9800 "ENST00000691320.1|NM_001130919.3" +HGNC:18072 RABL3 RAB, member of RAS oncogene family like 3 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 MGC23920 RAB, member of RAS oncogene family-like 3 RAB like GTPases 394 2002-02-18 2016-04-04 2023-01-20 285282 ENSG00000144840 OTTHUMG00000159668 uc003edx.3 BC020832 NM_173825 "CCDS3001|CCDS87127" Q5HYI8 20596630 MGI:1914907 RGD:1306436 618542 HGNC:18072 "ENST00000273375.8|NM_173825.5" HGNC:18072 HGNC:24703 RABL6 RAB, member RAS oncogene family like 6 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "FLJ10101|FLJ13045|pp8875|bA216L13.9|Parf|RBEL1" "Rab-like protein 1|partner of ARF" C9orf86 chromosome 9 open reading frame 86 "RAB like GTPases|MicroRNA protein coding host genes" "394|1691" 2004-02-19 2012-06-28 2017-02-21 2023-01-20 55684 ENSG00000196642 OTTHUMG00000020947 uc004cji.2 AK094382 NM_024718 "CCDS55353|CCDS55352|CCDS48058" Q3YEC7 "14702039|16582619|17962191|19433581" MGI:2442633 RGD:1307615 610615 HGNC:24703 "ENST00000311502.12|NM_024718.5" -HGNC:9801 RAC1 Rac family small GTPase 1 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "TC-25|p21-Rac1|Rac-1" ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) "Rho family GTPases|Receptor ligands" "390|542" 1993-11-05 2017-08-08 2023-03-15 5879 ENSG00000136238 OTTHUMG00000023540 uc003spx.4 AJ132695 NM_018890 "CCDS5348|CCDS5349" P63000 "2674130|10597294" MGI:97845 RGD:619755 RAC1 602048 470948 ligandId:5250 HGNC:9801 "ENST00000348035.9|NM_006908.5" HGNC:9801 +HGNC:9801 RAC1 Rac family small GTPase 1 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "TC-25|p21-Rac1|Rac-1" ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) "Rho family GTPases|Receptor ligands" "390|542" 1993-11-05 2017-08-08 2023-03-15 5879 ENSG00000136238 OTTHUMG00000023540 uc003spx.4 AJ132695 NM_018890 "CCDS5349|CCDS5348" P63000 "2674130|10597294" MGI:97845 RGD:619755 RAC1 602048 470948 ligandId:5250 HGNC:9801 "ENST00000348035.9|NM_006908.5" HGNC:9801 HGNC:31001 RAC1P1 Rac family small GTPase 1 pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 HsT2789 ras-related C3 botulinum toxin substrate 1 pseudogene 1 2004-01-05 2017-08-08 2017-10-30 387612 ENSG00000266520 OTTHUMG00000179504 NG_005321 PGOHUM00000294629 HGNC:31001 HGNC:31414 RAC1P2 Rac family small GTPase 1 pseudogene 2 pseudogene pseudogene Approved 4p12 04p12 Psi2Rac1 ras-related C3 botulinum toxin substrate 1 pseudogene 2 2004-04-15 2017-08-08 2017-08-08 442775 ENSG00000249936 OTTHUMG00000160545 NG_005326 15474301 PGOHUM00000245512 HGNC:31414 HGNC:31833 RAC1P3 Rac family small GTPase 1 pseudogene 3 pseudogene pseudogene Approved 13q14.11 13q14.11 Psi3Rac1 ras-related C3 botulinum toxin substrate 1 pseudogene 3 2004-11-05 2017-08-08 2017-08-08 492295 ENSG00000231404 OTTHUMG00000016788 NG_004753 15474301 PGOHUM00000248381 HGNC:31833 @@ -27579,8 +27582,8 @@ HGNC:9806 RAD1 RAD1 checkpoint DNA exonuclease protein-coding gene gene with pro HGNC:49479 RAD1P1 RAD1 pseudogene 1 pseudogene pseudogene Approved 10q26.11 10q26.11 RAD1 homolog pseudogene 1 2013-12-20 2014-08-08 2014-08-08 100128880 ENSG00000234569 OTTHUMG00000019152 NG_022192 PGOHUM00000238938 HGNC:49479 HGNC:49480 RAD1P2 RAD1 pseudogene 2 pseudogene pseudogene Approved 1q23.1 01q23.1 RAD1 homolog pseudogene 2 2013-12-20 2014-08-08 2014-08-08 100129690 ENSG00000233473 OTTHUMG00000037180 NG_022741 PGOHUM00000244302 HGNC:49480 HGNC:9827 RAD9A RAD9 checkpoint clamp component A protein-coding gene gene with protein product Approved 11q13.2 11q13.2 RAD9 "RAD9 (S. pombe) homolog|RAD9 homolog A (S. pombe)" Checkpoint clamp complex 1339 1997-02-03 2003-07-23 2015-06-22 2023-01-20 5883 ENSG00000172613 OTTHUMG00000167670 uc001okr.4 U53174 NM_004584 CCDS8159 Q99638 "8943031|20081369" MGI:1328356 RGD:2319938 603761 HGNC:9827 "ENST00000307980.7|NM_004584.3" -HGNC:21700 RAD9B RAD9 checkpoint clamp component B protein-coding gene gene with protein product Approved 12q24.11 12q24.11 FLJ40346 RAD9 homolog B (S. pombe) 2003-07-21 2015-06-22 2023-01-20 144715 ENSG00000151164 OTTHUMG00000152952 uc001trf.5 NM_152442 "CCDS73527|CCDS66469|CCDS9148|CCDS73526" Q6WBX8 "14611806|24013428" MGI:2385231 RGD:1308223 608368 HGNC:21700 "ENST00000409300.6|NM_001286535.2" -HGNC:9807 RAD17 RAD17 checkpoint clamp loader component protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "Rad24|RAD17Sp|CCYC" "RAD1 (S. pombe) homolog|RAD17 homolog (S. pombe)" 1998-07-31 2015-06-22 2023-01-20 5884 ENSG00000152942 OTTHUMG00000099357 uc003jwo.5 AF085736 NM_133344 "CCDS4004|CCDS47226|CCDS4003|CCDS4005" O75943 "9869296|9660800" MGI:1333807 RGD:1309515 603139 HGNC:9807 "ENST00000354868.10|NM_133338.3" +HGNC:21700 RAD9B RAD9 checkpoint clamp component B protein-coding gene gene with protein product Approved 12q24.11 12q24.11 FLJ40346 RAD9 homolog B (S. pombe) 2003-07-21 2015-06-22 2023-01-20 144715 ENSG00000151164 OTTHUMG00000152952 uc001trf.5 NM_152442 "CCDS73526|CCDS73527|CCDS66469|CCDS9148" Q6WBX8 "14611806|24013428" MGI:2385231 RGD:1308223 608368 HGNC:21700 "ENST00000409300.6|NM_001286535.2" +HGNC:9807 RAD17 RAD17 checkpoint clamp loader component protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "Rad24|RAD17Sp|CCYC" "RAD1 (S. pombe) homolog|RAD17 homolog (S. pombe)" 1998-07-31 2015-06-22 2023-01-20 5884 ENSG00000152942 OTTHUMG00000099357 uc003jwo.5 AF085736 NM_133344 "CCDS4005|CCDS4004|CCDS4003|CCDS47226" O75943 "9869296|9660800" MGI:1333807 RGD:1309515 603139 HGNC:9807 "ENST00000354868.10|NM_133338.3" HGNC:9808 RAD17P1 RAD17 pseudogene 1 pseudogene pseudogene Approved 7p21.1 07p21.1 HRAD17P1 "RAD17 (S. pombe) homolog, pseudogene 1|RAD17 homolog (S. pombe) pseudogene 1" 1999-02-15 2019-01-21 2019-01-21 9207 ENSG00000232400 OTTHUMG00000152462 AJ131309 NG_002929 PGOHUM00000232602 HGNC:9808 HGNC:9809 RAD17P2 RAD17 pseudogene 2 pseudogene pseudogene Approved 13q14.2 13q14.2 HRAD17P2 "RAD17 (S. pombe) homolog, pseudogene 2|RAD17 homolog (S. pombe) pseudogene 2" 1999-02-15 2019-01-21 2019-01-21 9206 ENSG00000223724 OTTHUMG00000016908 AJ131310 NG_002928 9660800 PGOHUM00000248396 HGNC:9809 HGNC:18278 RAD18 RAD18 E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 3p25.3 03p25.3 RNF73 RAD18 homolog (S. cerevisiae) Ring finger proteins 58 2003-07-01 2019-01-21 2023-01-20 56852 ENSG00000070950 OTTHUMG00000090545 uc003brd.4 NM_020165 CCDS2571 Q9NS91 "10884424|10908344" MGI:1890476 RGD:1306993 605256 HGNC:18278 "ENST00000264926.7|NM_020165.4" @@ -27588,21 +27591,21 @@ HGNC:9811 RAD21 RAD21 cohesin complex component protein-coding gene gene with pr HGNC:32158 RAD21-AS1 RAD21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.11 08q24.11 "C8orf81|NCRNA00255" "chromosome 8 open reading frame 81|non-protein coding RNA 255|RAD21 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2007-08-21 2011-08-11 2012-08-15 2012-10-12 644660 ENSG00000253327 OTTHUMG00000164960 uc003yoe.4 BC031280 XR_040079 RAD21-AS1 HGNC:32158 HGNC:16271 RAD21L1 RAD21 cohesin complex component like 1 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ545L17.2|RAD21L" RAD21-like 1 (S. pombe) Kleisins 1451 2002-02-05 2015-06-22 2023-01-20 642636 ENSG00000244588 OTTHUMG00000031664 uc010gab.1 AL031665 NM_001136566 "CCDS92998|CCDS46568" Q9H4I0 21527826 MGI:3652039 RGD:1587557 619533 HGNC:16271 "ENST00000683101.1|NM_001384355.1" HGNC:55032 RAD21P1 RAD21 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-05-28 2020-05-28 392508 ENSG00000238116 NG_022682 -HGNC:9812 RAD23A RAD23 homolog A, nucleotide excision repair protein protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "HHR23A|MGC111083" RAD23, yeast homolog, A "RAD23 (S. cerevisiae) homolog A|RAD23 homolog A (S. cerevisiae)" Nucleotide excision repair 1269 1994-07-20 2015-07-09 2023-01-20 5886 ENSG00000179262 OTTHUMG00000180723 uc002mvw.3 NM_005053 "CCDS59358|CCDS59357|CCDS12289" P54725 "7851894|21676658" MGI:105126 RGD:1309899 600061 HGNC:9812 "ENST00000586534.6|NM_005053.4" -HGNC:9813 RAD23B RAD23 homolog B, nucleotide excision repair protein protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "HHR23B|P58|HR23B" "XP-C repair complementing protein|XP-C repair complementing complex 58 kDa" "RAD23 (S. cerevisiae) homolog B|RAD23 homolog B (S. cerevisiae)" Nucleotide excision repair 1269 1994-07-20 2015-07-09 2023-01-20 5887 ENSG00000119318 OTTHUMG00000020446 uc004bde.4 NM_002874 "CCDS6769|CCDS59138" P54727 "7851894|8168482" MGI:105128 RGD:1562958 600062 HGNC:9813 "ENST00000358015.8|NM_002874.5" +HGNC:9812 RAD23A RAD23 homolog A, nucleotide excision repair protein protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "HHR23A|MGC111083" RAD23, yeast homolog, A "RAD23 (S. cerevisiae) homolog A|RAD23 homolog A (S. cerevisiae)" Nucleotide excision repair 1269 1994-07-20 2015-07-09 2023-01-20 5886 ENSG00000179262 OTTHUMG00000180723 uc002mvw.3 NM_005053 "CCDS12289|CCDS59358|CCDS59357" P54725 "7851894|21676658" MGI:105126 RGD:1309899 600061 HGNC:9812 "ENST00000586534.6|NM_005053.4" +HGNC:9813 RAD23B RAD23 homolog B, nucleotide excision repair protein protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "HHR23B|P58|HR23B" "XP-C repair complementing protein|XP-C repair complementing complex 58 kDa" "RAD23 (S. cerevisiae) homolog B|RAD23 homolog B (S. cerevisiae)" Nucleotide excision repair 1269 1994-07-20 2015-07-09 2023-01-20 5887 ENSG00000119318 OTTHUMG00000020446 uc004bde.4 NM_002874 "CCDS59138|CCDS6769" P54727 "7851894|8168482" MGI:105128 RGD:1562958 600062 HGNC:9813 "ENST00000358015.8|NM_002874.5" HGNC:44509 RAD23BP1 RAD23B pseudogene 1 pseudogene pseudogene Approved 3p24.3 03p24.3 "RAD23 homolog B (S. cerevisiae) pseudogene 1|RAD23 homolog B, nucleotide excision repair protein pseudogene 1" 2012-11-13 2019-01-21 2019-01-21 131185 ENSG00000236570 OTTHUMG00000155345 NG_022240 PGOHUM00000299362 HGNC:44509 HGNC:44510 RAD23BP2 RAD23B pseudogene 2 pseudogene pseudogene Approved 7q21.11 07q21.11 "RAD23 homolog B (S. cerevisiae) pseudogene 2|RAD23 homolog B, nucleotide excision repair protein pseudogene 2" 2012-11-13 2019-01-21 2019-01-21 100130572 ENSG00000230244 OTTHUMG00000154684 NG_022568 PGOHUM00000302835 HGNC:44510 HGNC:9814 RAD23BP3 RAD23B pseudogene 3 pseudogene pseudogene Approved 21q21.1 21q21.1 RAD23BLP "RAD23 (S. cerevisiae) homolog B-like pseudogene|RAD23 homolog B (S. cerevisiae)-like pseudogene|RAD23 homolog B-like (S. cerevisiae) pseudogene" 2000-05-23 2017-05-12 2019-01-21 2019-01-21 54034 ENSG00000226298 OTTHUMG00000074344 NG_032020 HGNC:9814 HGNC:9816 RAD50 RAD50 double strand break repair protein protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "hRad50|RAD50-2" "RAD50 (S. cerevisiae) homolog|RAD50 homolog (S. cerevisiae)|RAD50 homolog, double strand break repair protein" "BRCA1 C complex|MRN complex" "1336|1344" 1999-07-23 2016-01-27 2023-03-15 10111 ENSG00000113522 OTTHUMG00000059613 uc003kxi.4 Z75311 NM_005732 CCDS34233 Q92878 "8756642|9705271" MGI:109292 RGD:621542 LRG_312|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_312.xml 604040 242004 HGNC:9816 "ENST00000378823.8|NM_005732.4" HGNC:9816 -HGNC:9817 RAD51 RAD51 recombinase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "HsRad51|HsT16930|BRCC5|FANCR" BRCA1/BRCA2-containing complex, subunit 5 "RAD51A|RECA" "RAD51 (S. cerevisiae) homolog (E coli RecA homolog)|RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)|RAD51 homolog (S. cerevisiae)" FA complementation groups 548 1993-05-26 2013-07-02 2023-01-20 5888 ENSG00000051180 OTTHUMG00000130067 uc001zmi.5 D13804 "NM_002875|NM_133487" "CCDS10062|CCDS53932|CCDS53931" Q06609 "8358431|8479919|26253028" MGI:97890 RGD:1563603 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_313|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_313.xml" 179617 118208 HGNC:9817 "ENST00000267868.8|NM_002875.5" HGNC:9817 +HGNC:9817 RAD51 RAD51 recombinase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "HsRad51|HsT16930|BRCC5|FANCR" BRCA1/BRCA2-containing complex, subunit 5 "RAD51A|RECA" "RAD51 (S. cerevisiae) homolog (E coli RecA homolog)|RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)|RAD51 homolog (S. cerevisiae)" FA complementation groups 548 1993-05-26 2013-07-02 2023-01-20 5888 ENSG00000051180 OTTHUMG00000130067 uc001zmi.5 D13804 "NM_002875|NM_133487" "CCDS53932|CCDS53931|CCDS10062" Q06609 "8358431|8479919|26253028" MGI:97890 RGD:1563603 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_313|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_313.xml" 179617 118208 HGNC:9817 "ENST00000267868.8|NM_002875.5" HGNC:9817 HGNC:48621 RAD51-AS1 RAD51 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 TODRA transcribed in the opposite direction of RAD51 RAD51 antisense RNA 1 (head to head) Antisense RNAs 1987 2013-05-24 2018-06-14 2018-06-14 100505648 ENSG00000245849 OTTHUMG00000166119 AK125393 NR_040058 26230935 RAD51-AS1 HGNC:48621 -HGNC:16956 RAD51AP1 RAD51 associated protein 1 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 PIR51 2004-09-16 2023-01-20 10635 ENSG00000111247 OTTHUMG00000168125 uc001qmu.4 AF006259 NM_006479 "CCDS44805|CCDS91640|CCDS8529" Q96B01 9396801 MGI:1098224 RGD:1597431 603070 HGNC:16956 "ENST00000352618.9|NM_006479.5" +HGNC:16956 RAD51AP1 RAD51 associated protein 1 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 PIR51 2004-09-16 2023-01-20 10635 ENSG00000111247 OTTHUMG00000168125 uc001qmu.4 AF006259 NM_006479 "CCDS8529|CCDS44805|CCDS91640" Q96B01 9396801 MGI:1098224 RGD:1597431 603070 HGNC:16956 "ENST00000352618.9|NM_006479.5" HGNC:49646 RAD51AP1P1 RAD51AP1 pseudogene 1 pseudogene pseudogene Approved 3q22.3 03q22.3 2014-01-28 2019-01-21 2019-01-21 100420047 ENSG00000214283 OTTHUMG00000159774 NG_025631 PGOHUM00000237784 HGNC:49646 HGNC:34417 RAD51AP2 RAD51 associated protein 2 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 FLJ17540 2009-01-13 2023-01-20 729475 ENSG00000214842 OTTHUMG00000151761 uc002rcl.2 AK310498 NM_001099218 CCDS42656 Q09MP3 16990250 MGI:3644580 RGD:2322652 HGNC:34417 "ENST00000399080.3|NM_001099218.3" -HGNC:9822 RAD51B RAD51 paralog B protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "REC2|hREC2|R51H2" RAD51L1 "RAD51 (S. cerevisiae)-like 1|RAD51-like 1 (S. cerevisiae)|RAD51 homolog B (S. cerevisiae)" 1997-09-12 2011-07-01 2013-07-02 2023-01-20 5890 ENSG00000182185 OTTHUMG00000157530 uc001xkd.4 U84138 NM_001321809 "CCDS81815|CCDS9789|CCDS9790" O15315 "6261043|9207106" MGI:1099436 RGD:1560681 RAD51B 602948 470952 HGNC:9822 "ENST00000471583.6|NM_133510.4" -HGNC:9820 RAD51C RAD51 paralog C protein-coding gene gene with protein product Approved 17q22 17q22 "RAD51L2|FANCO" "RAD51 (S. cerevisiae) homolog C|RAD51 homolog C (S. cerevisiae)" FA complementation groups 548 1998-02-26 2013-07-02 2023-03-15 5889 ENSG00000108384 OTTHUMG00000141292 uc002iwu.5 AF029670 NM_058216 "CCDS45745|CCDS11611" O43502 "9469824|22167183" MGI:2150020 RGD:1563765 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_314|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_314.xml" 602774 229784 HGNC:9820 "ENST00000337432.9|NM_058216.3" HGNC:9820 -HGNC:9823 RAD51D RAD51 paralog D protein-coding gene gene with protein product Approved 17q12 17q12 "R51H3|Trad|HsTRAD" "recombination repair protein|DNA repair protein RAD51 homolog 4" RAD51L3 "RAD51 (S. cerevisiae)-like 3|RAD51-like 3 (S. cerevisiae)|RAD51 homolog D (S. cerevisiae)" 1998-05-27 2011-07-01 2013-07-02 2023-03-15 5892 ENSG00000185379 OTTHUMG00000132930 uc002hir.4 AF034956 NM_002878 "CCDS11287|CCDS45646|CCDS11288" O75771 9570954 MGI:1261809 RGD:1306944 LRG_516|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_516.xml 602954 297209 HGNC:9823 "ENST00000345365.11|NM_002878.4" HGNC:9823 -HGNC:9824 RAD52 RAD52 homolog, DNA repair protein protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "RAD52 (S. cerevisiae) homolog|RAD52 homolog (S. cerevisiae)" 1995-03-28 2015-07-10 2023-01-20 5893 ENSG00000002016 OTTHUMG00000090361 uc001qiu.2 NM_134424 "CCDS8507|CCDS76501|CCDS76500" P43351 "7774919|18313388|19506022|24340529" MGI:101949 RGD:1304975 600392 HGNC:9824 "ENST00000358495.8|NM_134424.4" +HGNC:9822 RAD51B RAD51 paralog B protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "REC2|hREC2|R51H2" RAD51L1 "RAD51 (S. cerevisiae)-like 1|RAD51-like 1 (S. cerevisiae)|RAD51 homolog B (S. cerevisiae)" 1997-09-12 2011-07-01 2013-07-02 2023-01-20 5890 ENSG00000182185 OTTHUMG00000157530 uc001xkd.4 U84138 NM_001321809 "CCDS9790|CCDS81815|CCDS9789" O15315 "6261043|9207106" MGI:1099436 RGD:1560681 RAD51B 602948 470952 HGNC:9822 "ENST00000471583.6|NM_133510.4" +HGNC:9820 RAD51C RAD51 paralog C protein-coding gene gene with protein product Approved 17q22 17q22 "RAD51L2|FANCO" "RAD51 (S. cerevisiae) homolog C|RAD51 homolog C (S. cerevisiae)" FA complementation groups 548 1998-02-26 2013-07-02 2023-03-15 5889 ENSG00000108384 OTTHUMG00000141292 uc002iwu.5 AF029670 NM_058216 "CCDS11611|CCDS45745" O43502 "9469824|22167183" MGI:2150020 RGD:1563765 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_314|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_314.xml" 602774 229784 HGNC:9820 "ENST00000337432.9|NM_058216.3" HGNC:9820 +HGNC:9823 RAD51D RAD51 paralog D protein-coding gene gene with protein product Approved 17q12 17q12 "R51H3|Trad|HsTRAD" "recombination repair protein|DNA repair protein RAD51 homolog 4" RAD51L3 "RAD51 (S. cerevisiae)-like 3|RAD51-like 3 (S. cerevisiae)|RAD51 homolog D (S. cerevisiae)" 1998-05-27 2011-07-01 2013-07-02 2023-03-15 5892 ENSG00000185379 OTTHUMG00000132930 uc002hir.4 AF034956 NM_002878 "CCDS45646|CCDS11288|CCDS11287" O75771 9570954 MGI:1261809 RGD:1306944 LRG_516|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_516.xml 602954 297209 HGNC:9823 "ENST00000345365.11|NM_002878.4" HGNC:9823 +HGNC:9824 RAD52 RAD52 homolog, DNA repair protein protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "RAD52 (S. cerevisiae) homolog|RAD52 homolog (S. cerevisiae)" 1995-03-28 2015-07-10 2023-01-20 5893 ENSG00000002016 OTTHUMG00000090361 uc001qiu.2 NM_134424 "CCDS76501|CCDS76500|CCDS8507" P43351 "7774919|18313388|19506022|24340529" MGI:101949 RGD:1304975 600392 HGNC:9824 "ENST00000358495.8|NM_134424.4" HGNC:54559 RAD52P1 RAD52 pseudogene 1 pseudogene pseudogene Approved 2q31.2 02q31.2 2019-10-16 2019-10-16 644776 ENSG00000237964 NG_021540 HGNC:17228 RAD54B RAD54 homolog B protein-coding gene gene with protein product Approved 8q22.1 08q22.1 RDH54 RAD54 homolog B (S. cerevisiae) 2004-01-22 2018-01-31 2023-03-15 25788 ENSG00000197275 OTTHUMG00000133658 uc003ygk.4 AF112481 NM_012415 "CCDS56546|CCDS6262" Q9Y620 "10362364|10851248" MGI:3605986 RGD:1306507 604289 HGNC:17228 "ENST00000336148.10|NM_012415.3" HGNC:9826 RAD54L RAD54 like protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "hHR54|hRAD54|RAD54A" "RAD54 (S.cerevisiae)-like|RAD54 like (S. cerevisiae)" 1998-11-04 2017-08-08 2023-01-20 8438 ENSG00000085999 OTTHUMG00000007772 uc009vye.2 X97795 NM_003579 CCDS532 Q92698 8805304 MGI:894697 RGD:1310600 LRG_1414|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1414.xml 603615 437664 HGNC:9826 "ENST00000371975.9|NM_003579.4" @@ -27611,38 +27614,38 @@ HGNC:54570 RAD54L2P1 RAD54L2 pseudogene 1 pseudogene pseudogene Approved 19p12 1 HGNC:22226 RADIL Rap associating with DIL domain protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "FLJ10324|KIAA1849|RASIP2" Ras association and DIL domains PDZ domain containing 1220 2009-01-27 2016-03-15 2023-01-20 55698 ENSG00000157927 OTTHUMG00000151753 uc003snj.2 AB058752 NM_018059 CCDS43544 Q96JH8 "16051602|17704304" MGI:2443088 RGD:1306155 611491 HGNC:22226 "ENST00000399583.4|NM_018059.5" HGNC:25486 RADX RPA1 related single stranded DNA binding protein, X-linked protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "FLJ14191|FLJ10178" CXorf57 chromosome X open reading frame 57 MicroRNA protein coding host genes 1691 2006-07-10 2018-09-03 2018-09-03 2023-01-20 55086 ENSG00000147231 OTTHUMG00000022150 uc004emi.5 AK024253 NM_018015 "CCDS55470|CCDS14519" Q6NSI4 "28735897|29021206" MGI:2147848 RGD:1589413 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf57 HGNC:25486 "ENST00000372548.9|NM_018015.6" HGNC:9828 RAE1 ribonucleic acid export 1 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "Mnrp41|Gle2" "RAE1 (RNA export 1, S.pombe) homolog|RAE1 RNA export 1 homolog (S. pombe)" "WD repeat domain containing|Nucleoporins" "362|1051" 1999-07-23 2013-08-28 2023-01-20 8480 ENSG00000101146 OTTHUMG00000032819 uc002xyg.4 U84720 NM_001015885 CCDS13458 P78406 "9370289|9256445" MGI:1913929 RGD:1311540 603343 HGNC:9828 "ENST00000395841.7|NM_003610.4" -HGNC:16793 RAET1E retinoic acid early transcript 1E protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "LETAL|bA350J20.7|ULBP4" 2003-04-28 2023-01-20 135250 ENSG00000164520 OTTHUMG00000015796 uc003qnl.1 AF359243 NM_139165 "CCDS59043|CCDS59044|CCDS59042|CCDS5221" Q8TD07 11827464 MGI:1925027 RGD:1311118 609243 HGNC:16793 "ENST00000357183.9|NM_001394057.1" +HGNC:16793 RAET1E retinoic acid early transcript 1E protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "LETAL|bA350J20.7|ULBP4" 2003-04-28 2023-01-20 135250 ENSG00000164520 OTTHUMG00000015796 uc003qnl.1 AF359243 NM_139165 "CCDS59044|CCDS59043|CCDS5221|CCDS59042" Q8TD07 11827464 MGI:1925027 RGD:1311118 609243 HGNC:16793 "ENST00000357183.9|NM_001394057.1" HGNC:48994 RAET1E-AS1 RAET1E antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.1 06q25.1 RAET1G-AS1 Antisense RNAs 1987 2013-07-25 2013-07-25 100652739 ENSG00000223701 OTTHUMG00000015804 NR_045126 RAET1E-AS1 HGNC:48994 HGNC:16794 RAET1F retinoic acid early transcript 1F pseudogene pseudogene pseudogene Approved 6q24.1-q25.1 06q24.1-q25.1 2003-04-29 2014-11-19 353089 NG_005420 11827464 HGNC:16794 HGNC:16795 RAET1G retinoic acid early transcript 1G protein-coding gene gene with protein product Approved 6q25.1 06q25.1 ULBP5 retinoic acid early transcript 1G pseudogene 2003-04-29 2004-11-22 2023-01-20 353091 ENSG00000203722 OTTHUMG00000015802 uc010kii.1 AY172579 NM_001001788 CCDS43514 Q6H3X3 "11827464|15240696" "MGI:109431|MGI:109432|MGI:109477|MGI:1861032|MGI:2675273" 609244 HGNC:16795 "ENST00000367360.7|NM_001001788.4" HGNC:16797 RAET1K retinoic acid early transcript 1K pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 2003-04-29 2020-04-20 646024 ENSG00000218358 OTTHUMG00000015815 AF425244 NR_024045 11827464 PGOHUM00000243416 HGNC:16797 HGNC:16798 RAET1L retinoic acid early transcript 1L protein-coding gene gene with protein product Approved 6q25.1 06q25.1 2003-04-29 2023-01-20 154064 ENSG00000155918 OTTHUMG00000015809 uc063sfv.1 AY039682 NM_130900 CCDS5224 Q5VY80 11827464 "MGI:109431|MGI:109432|MGI:109477|MGI:1861032|MGI:2675273" 611047 HGNC:16798 "ENST00000367341.6|NM_130900.3" HGNC:16799 RAET1M retinoic acid early transcript 1M pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 2003-04-29 2014-11-19 353094 ENSG00000216444 OTTHUMG00000015816 NG_008390 11827464 PGOHUM00000243819 HGNC:16799 -HGNC:9829 RAF1 Raf-1 proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "Raf-1|c-Raf|CRAF" C-Raf proto-oncogene, serine/threonine kinase v-raf-1 murine leukemia viral oncogene homolog 1 "Mitogen-activated protein kinase kinase kinases|RAF family" "654|1157" 1986-01-01 2014-06-26 2023-01-20 5894 ENSG00000132155 OTTHUMG00000129789 uc003bxf.5 X03484 NM_002880 "CCDS2612|CCDS93217|CCDS87047" P04049 1611909 MGI:97847 RGD:3531 LRG_413|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_413.xml RAF1 164760 138722 objectId:2184 HGNC:9829 "ENST00000251849.9|NM_002880.4" HGNC:9829 +HGNC:9829 RAF1 Raf-1 proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "Raf-1|c-Raf|CRAF" C-Raf proto-oncogene, serine/threonine kinase v-raf-1 murine leukemia viral oncogene homolog 1 "Mitogen-activated protein kinase kinase kinases|RAF family" "654|1157" 1986-01-01 2014-06-26 2023-01-20 5894 ENSG00000132155 OTTHUMG00000129789 uc003bxf.5 X03484 NM_002880 "CCDS93217|CCDS87047|CCDS2612" P04049 1611909 MGI:97847 RGD:3531 LRG_413|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_413.xml RAF1 164760 138722 objectId:2184 HGNC:9829 "ENST00000251849.9|NM_002880.4" HGNC:9829 HGNC:9830 RAF1P1 RAF1 pseudogene 1 pseudogene pseudogene Approved 4p16.1 04p16.1 v-raf-1 murine leukemia viral oncogene homolog 1 pseudogene 1 1986-01-01 2014-06-26 2014-11-18 348910 ENSG00000250040 OTTHUMG00000160133 NG_003018 PGOHUM00000245458 HGNC:9830 HGNC:9831 RAG1 recombination activating 1 protein-coding gene gene with protein product Approved 11p12 11p12 "RNF74|MGC43321" "recombination activating protein 1|RING finger protein 74|V(D)J recombination-activating protein 1" recombination activating gene 1 "Ring finger proteins|DNA transposon derived genes" "58|1415" 1990-06-18 2016-08-04 2023-01-20 5896 ENSG00000166349 OTTHUMG00000166392 uc001mwu.5 M29474 NM_000448 CCDS7902 P15918 "1612612|1283330" MGI:97848 RGD:619790 "RAG1base: Mutation registry for autosomal recessive RAG1 deficiency|http://structure.bmc.lu.se/idbase/RAG1base/|LRG_98|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_98.xml" 179615 118215 HGNC:9831 "ENST00000299440.6|NM_000448.3" HGNC:9831 HGNC:9832 RAG2 recombination activating 2 protein-coding gene gene with protein product Approved 11p12 11p12 recombination activating gene 2 1990-08-15 2016-08-04 2023-01-20 5897 ENSG00000175097 OTTHUMG00000166393 uc021qgd.2 AF080577 NM_000536 CCDS7903 P55895 1283330 MGI:97849 RGD:1305588 "RAG2base: Mutation registry for autosomal recessive RAG2 deficiency|http://structure.bmc.lu.se/idbase/RAG2base/|LRG_99|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_99.xml" 179616 118218 HGNC:9832 "ENST00000311485.8|NM_000536.4" HGNC:9832 HGNC:9834 RAI1 retinoic acid induced 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DKFZP434A139|SMS|KIAA1820|MGC12824" SMCR Smith-Magenis syndrome chromosome region 1999-04-16 2023-01-20 10743 ENSG00000108557 OTTHUMG00000059314 uc002grm.4 AJ230819 NM_030665 CCDS11188 Q7Z5J4 10036180 MGI:103291 RGD:1308500 607642 118220 HGNC:9834 "ENST00000353383.6|NM_030665.4" HGNC:9834 HGNC:40496 RAI1-AS1 RAI1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 RAI1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2014-11-19 100861516 ENSG00000237328 OTTHUMG00000059315 uc060bxq.1 "BX366317|BX401587" NR_130894 RAI1-AS1 HGNC:40496 HGNC:9835 RAI2 retinoic acid induced 2 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 1998-09-29 2023-01-20 10742 ENSG00000131831 OTTHUMG00000021209 uc022btl.2 Z93242 NM_021785 "CCDS14183|CCDS55374" Q9Y5P3 "10049581|10394933" MGI:1344378 RGD:1560139 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAI2 300217 HGNC:9835 "ENST00000451717.6|NM_021785.6" -HGNC:14873 RAI14 retinoic acid induced 14 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "NORPEG|KIAA1334|RAI13|DKFZp564G013" novel retinal pigment epithelial Ankyrin repeat domain containing 403 2001-04-20 2023-01-20 26064 ENSG00000039560 OTTHUMG00000162019 uc003jir.4 AB037755 NM_015577 "CCDS54838|CCDS54839|CCDS34142|CCDS54837" Q9P0K7 11042181 MGI:1922896 RGD:1305942 606586 HGNC:14873 "ENST00000265109.8|NM_015577.3" +HGNC:14873 RAI14 retinoic acid induced 14 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "NORPEG|KIAA1334|RAI13|DKFZp564G013" novel retinal pigment epithelial Ankyrin repeat domain containing 403 2001-04-20 2023-01-20 26064 ENSG00000039560 OTTHUMG00000162019 uc003jir.4 AB037755 NM_015577 "CCDS54838|CCDS34142|CCDS54839|CCDS54837" Q9P0K7 11042181 MGI:1922896 RGD:1305942 606586 HGNC:14873 "ENST00000265109.8|NM_015577.3" HGNC:55983 RAI14-DT RAI14 divergent transcript non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 Divergent transcripts 1990 2021-11-12 2021-11-12 105374723 ENSG00000271874 NR_183264 HGNC:9839 RALA RAS like proto-oncogene A protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "RAS-like protein A|Ras-related protein Ral-A|Ras family small GTP binding protein RALA|ras related GTP binding protein A" RAL v-ral simian leukemia viral oncogene homolog A (ras related) RAS type GTPase family 389 2001-06-22 2016-08-11 2023-01-20 5898 ENSG00000006451 OTTHUMG00000128775 uc003thd.4 NM_005402 CCDS5460 P11233 3292391 MGI:1927243 RGD:619851 179550 HGNC:9839 "ENST00000005257.7|NM_005402.4" HGNC:9839 HGNC:9840 RALB RAS like proto-oncogene B protein-coding gene gene with protein product Approved 2q14.2 02q14.2 ras related GTP binding protein B v-ral simian leukemia viral oncogene homolog B RAS type GTPase family 389 1989-06-30 2016-08-11 2023-01-20 5899 ENSG00000144118 OTTHUMG00000131435 uc002tmk.4 NM_002881 CCDS2131 P11234 MGI:1927244 RGD:619852 179551 HGNC:9840 "ENST00000272519.10|NM_002881.3" HGNC:9841 RALBP1 ralA binding protein 1 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "RLIP76|RIP1|RIP" 2000-02-11 2023-01-20 10928 ENSG00000017797 OTTHUMG00000131596 uc002kob.4 L42542 NM_006788 CCDS11845 Q15311 7673236 MGI:108466 RGD:621134 605801 HGNC:9841 "ENST00000383432.8|NM_006788.4" HGNC:54696 RALBP1P1 RALBP1 pseudogene 1 pseudogene pseudogene Approved 3q26.33 03q26.33 2019-11-28 2019-11-28 131054 ENSG00000239880 NG_022283 HGNC:54697 RALBP1P2 RALBP1 pseudogene 2 pseudogene pseudogene Approved 2q11.2 02q11.2 2019-11-28 2019-11-28 129522 ENSG00000238029 NG_021573 -HGNC:17770 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "GRIPE|DKFZp667F074|KIAA0884|Tulip1|RalGAPalpha1" "tuberin-like protein 1|GAP-related interacting protein to E12" GARNL1 "GTPase activating RANGAP domain-like 1|GTPase activating Rap/RanGAP domain-like 1" 2003-10-09 2009-09-09 2019-11-26 2023-01-20 253959 ENSG00000174373 OTTHUMG00000170619 uc001wtj.4 AK126975 NM_001283043 "CCDS61440|CCDS91865|CCDS81797|CCDS91864|CCDS61439|CCDS32065|CCDS32064" Q6GYQ0 19520869 MGI:1931050 RGD:620642 608884 HGNC:17770 "ENST00000680220.1|NM_001346249.2" HGNC:17770 +HGNC:17770 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "GRIPE|DKFZp667F074|KIAA0884|Tulip1|RalGAPalpha1" "tuberin-like protein 1|GAP-related interacting protein to E12" GARNL1 "GTPase activating RANGAP domain-like 1|GTPase activating Rap/RanGAP domain-like 1" 2003-10-09 2009-09-09 2019-11-26 2023-01-20 253959 ENSG00000174373 OTTHUMG00000170619 uc001wtj.4 AK126975 NM_001283043 "CCDS81797|CCDS61440|CCDS32065|CCDS32064|CCDS61439|CCDS91865|CCDS91864" Q6GYQ0 19520869 MGI:1931050 RGD:620642 608884 HGNC:17770 "ENST00000680220.1|NM_001346249.2" HGNC:17770 HGNC:23203 RALGAPA1P1 RALGAPA1 pseudogene 1 pseudogene pseudogene Approved 9q31.2 09q31.2 DKFZp566D133 GTPase activating RANGAP domain-like 2 "GARNL2|GARNL2P|RALGAPA1P" "GTPase activating RANGAP domain-like 2 pseudogene|GTPase activating Rap/RanGAP domain-like 2 pseudogene|Ral GTPase activating protein catalytic alpha subunit 1 pseudogene 1" 2003-10-09 2016-01-26 2019-11-26 2019-11-26 26134 ENSG00000229419 OTTHUMG00000020427 AL050050 NG_004673 11221845 PGOHUM00000304431 HGNC:23203 HGNC:16207 RALGAPA2 Ral GTPase activating protein catalytic subunit alpha 2 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "dJ1049G11.4|AS250|KIAA1272|RapGAPalpha2" C20orf74 chromosome 20 open reading frame 74 Armadillo like helical domain containing 1492 2001-07-17 2009-09-09 2019-11-26 2023-01-20 57186 ENSG00000188559 OTTHUMG00000032010 uc002wrz.4 "AL078634|DQ310704" NM_020343 CCDS46584 Q2PPJ7 "16490346|19520869" MGI:3036245 RGD:1308023 618836 HGNC:16207 "ENST00000202677.12|NM_020343.4" -HGNC:29221 RALGAPB Ral GTPase activating protein non-catalytic subunit beta protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "DKFZp781M2411|RalGAPbeta" KIAA1219 KIAA1219 "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2006-03-23 2009-09-09 2019-11-26 2023-01-20 57148 ENSG00000170471 OTTHUMG00000140270 uc002xiw.5 AB033045 NM_020336 "CCDS63272|CCDS13305" Q86X10 19520869 MGI:2444531 RGD:1306861 618833 HGNC:29221 "ENST00000262879.11|NM_020336.4" HGNC:29221 -HGNC:9842 RALGDS ral guanine nucleotide dissociation stimulator protein-coding gene gene with protein product Approved 9q34.13-q34.2 09q34.13-q34.2 "RGF|RalGEF|RGDS" 1997-01-20 2023-01-20 5900 ENSG00000160271 OTTHUMG00000020858 uc004cco.5 AB037729 NM_006266 "CCDS65172|CCDS6959|CCDS65174|CCDS65173|CCDS43897" Q12967 7972015 MGI:107485 RGD:3533 601619 HGNC:9842 "ENST00000372050.8|NM_006266.4" HGNC:9842 -HGNC:16851 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "RALGPS1A|RALGEF2|KIAA0351" Pleckstrin homology domain containing 682 2004-05-17 2023-01-20 9649 ENSG00000136828 OTTHUMG00000020696 uc004bqo.3 AB002349 NM_014636 "CCDS55345|CCDS94484|CCDS55346|CCDS35143|CCDS55344" Q5JS13 "9205841|10747847" MGI:1922008 RGD:2319500 614444 HGNC:16851 "ENST00000259351.10|NM_014636.3" +HGNC:29221 RALGAPB Ral GTPase activating protein non-catalytic subunit beta protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "DKFZp781M2411|RalGAPbeta" KIAA1219 KIAA1219 "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2006-03-23 2009-09-09 2019-11-26 2023-01-20 57148 ENSG00000170471 OTTHUMG00000140270 uc002xiw.5 AB033045 NM_020336 "CCDS13305|CCDS63272" Q86X10 19520869 MGI:2444531 RGD:1306861 618833 HGNC:29221 "ENST00000262879.11|NM_020336.4" HGNC:29221 +HGNC:9842 RALGDS ral guanine nucleotide dissociation stimulator protein-coding gene gene with protein product Approved 9q34.13-q34.2 09q34.13-q34.2 "RGF|RalGEF|RGDS" 1997-01-20 2023-01-20 5900 ENSG00000160271 OTTHUMG00000020858 uc004cco.5 AB037729 NM_006266 "CCDS65173|CCDS43897|CCDS6959|CCDS65174|CCDS65172" Q12967 7972015 MGI:107485 RGD:3533 601619 HGNC:9842 "ENST00000372050.8|NM_006266.4" HGNC:9842 +HGNC:16851 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "RALGPS1A|RALGEF2|KIAA0351" Pleckstrin homology domain containing 682 2004-05-17 2023-01-20 9649 ENSG00000136828 OTTHUMG00000020696 uc004bqo.3 AB002349 NM_014636 "CCDS94484|CCDS55344|CCDS55345|CCDS35143|CCDS55346" Q5JS13 "9205841|10747847" MGI:1922008 RGD:2319500 614444 HGNC:16851 "ENST00000259351.10|NM_014636.3" HGNC:30279 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "KIAA0351|FLJ10244|FLJ25604" Pleckstrin homology domain containing 682 2004-06-28 2023-03-15 55103 ENSG00000116191 OTTHUMG00000035076 uc001glz.5 AK098470 NM_152663 "CCDS65733|CCDS1325" Q86X27 "10747847|12102558" MGI:1925505 RGD:1311537 617819 HGNC:30279 "ENST00000367635.8|NM_152663.5" HGNC:55163 RALGPS2-AS1 RALGPS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 lnc-ANGPTL1-3 Antisense RNAs 1987 2020-07-17 2022-07-25 646976 ENSG00000273062 XR_007070890 -HGNC:15921 RALY RALY heterogeneous nuclear ribonucleoprotein protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "P542|HNRPCL2" "RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)|RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2001-06-21 2013-08-06 2023-01-20 22913 ENSG00000125970 OTTHUMG00000032283 uc002xab.4 AF148457 NM_007367 "CCDS13229|CCDS13230" Q9UKM9 "10500250|23614458" MGI:97850 RGD:1307228 614663 HGNC:15921 "ENST00000246194.8|NM_016732.3" +HGNC:15921 RALY RALY heterogeneous nuclear ribonucleoprotein protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "P542|HNRPCL2" "RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)|RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2001-06-21 2013-08-06 2023-01-20 22913 ENSG00000125970 OTTHUMG00000032283 uc002xab.4 AF148457 NM_007367 "CCDS13230|CCDS13229" Q9UKM9 "10500250|23614458" MGI:97850 RGD:1307228 614663 HGNC:15921 "ENST00000246194.8|NM_016732.3" HGNC:50743 RALY-AS1 RALY antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 Antisense RNAs 1987 2014-06-13 2018-05-30 101926888 ENSG00000285230 OTTHUMG00000032279 NR_109885 RALY-AS1 HGNC:50743 -HGNC:27036 RALYL RALY RNA binding protein like protein-coding gene gene with protein product Approved 8q21.2 08q21.2 HNRPCL3 RNA binding motif containing 725 2007-07-25 2017-05-12 2023-01-20 138046 ENSG00000184672 OTTHUMG00000164628 uc003yct.5 NM_001100391 "CCDS55252|CCDS55253|CCDS75761|CCDS75760" Q86SE5 12688537 MGI:1924147 RGD:1305844 614648 HGNC:27036 "ENST00000521268.6|NM_173848.7" +HGNC:27036 RALYL RALY RNA binding protein like protein-coding gene gene with protein product Approved 8q21.2 08q21.2 HNRPCL3 RNA binding motif containing 725 2007-07-25 2017-05-12 2023-01-20 138046 ENSG00000184672 OTTHUMG00000164628 uc003yct.5 NM_001100391 "CCDS55253|CCDS75761|CCDS75760|CCDS55252" Q86SE5 12688537 MGI:1924147 RGD:1305844 614648 HGNC:27036 "ENST00000521268.6|NM_173848.7" HGNC:31022 RAMAC RNA guanine-7 methyltransferase activating subunit protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "HsT19360|C15orf18|MGC2560|RAM" RNMT-activating mini protein "FAM103A1|RAMMET" "family with sequence similarity 103 member A1|RNMT activating mRNA cap methyltransferase subunit" 2005-11-24 2018-06-08 2018-06-08 2023-01-20 83640 ENSG00000169612 OTTHUMG00000147357 uc002bjl.3 CR597724 NM_031452 CCDS10321 Q9BTL3 "22099306|27934633|24200467" MGI:1914398 RGD:1310022 614547 HGNC:31022 "ENST00000304191.4|NM_031452.4" HGNC:21234 RAMACL RNA guanine-7 methyltransferase activating subunit like protein-coding gene gene with protein product Approved 6q27 06q27 dJ427A4.2 "C6orf119|FAM103A2P|RAMMETL" "chromosome 6 open reading frame 119|family with sequence similarity 103, member A2 pseudogene|RNMT activating mRNA cap methyltransferase subunit like (pseudogene)|RNA guanine-7 methyltransferase activating subunit like (pseudogene)" 2003-05-29 2018-06-08 2022-09-16 2023-01-20 353267 ENSG00000235272 OTTHUMG00000016003 NM_001395999 CCDS94031 A0A3B3IU46 "MGI:1914398|MGI:3642136" HGNC:21234 "ENST00000444122.3|NM_001395999.1" HGNC:9843 RAMP1 receptor activity modifying protein 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 Receptor (G protein-coupled) activity modifying proteins 718 2000-07-31 2016-04-01 2023-01-20 10267 ENSG00000132329 OTTHUMG00000133337 uc002vxj.4 AJ001014 NM_005855 "CCDS77546|CCDS2522" O60894 MGI:1858418 RGD:61870 605153 objectId:51 HGNC:9843 "ENST00000254661.5|NM_005855.4" @@ -27650,19 +27653,19 @@ HGNC:9844 RAMP2 receptor activity modifying protein 2 protein-coding gene gene w HGNC:44358 RAMP2-AS1 RAMP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 Antisense RNAs 1987 2012-08-17 2016-12-19 100190938 ENSG00000197291 OTTHUMG00000180647 uc060fmv.1 "BC018638|BC041021" NR_024461 27784795 RAMP2-AS1 HGNC:44358 HGNC:9845 RAMP3 receptor activity modifying protein 3 protein-coding gene gene with protein product Approved 7p13 07p13 Receptor (G protein-coupled) activity modifying proteins 718 2000-07-31 2016-07-27 2023-01-20 10268 ENSG00000122679 OTTHUMG00000023729 uc064dlz.1 AJ001016 NM_005856 CCDS5503 O60896 MGI:1860292 RGD:61873 605155 objectId:53 HGNC:9845 "ENST00000242249.8|NM_005856.3" HGNC:9846 RAN RAN, member RAS oncogene family protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "ARA24|TC4|Gsp1" RAN family GTPases 391 1996-11-14 2023-01-20 5901 ENSG00000132341 OTTHUMG00000134328 uc001uir.4 M31469 NM_006325 "CCDS73546|CCDS9271" P62826 8421051 MGI:1333112 RGD:620367 601179 HGNC:9846 "ENST00000543796.6|NM_006325.5" -HGNC:9847 RANBP1 RAN binding protein 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 HTF9A Small nucleolar RNA protein coding host genes 1835 1996-11-14 2023-01-20 5902 ENSG00000099901 OTTHUMG00000150490 uc002zro.3 D38076 NM_002882 "CCDS13775|CCDS74823|CCDS63408" P43487 "7616957|10330396" MGI:96269 RGD:1310521 601180 HGNC:9847 "ENST00000430524.6|NM_001278639.2" +HGNC:9847 RANBP1 RAN binding protein 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 HTF9A Small nucleolar RNA protein coding host genes 1835 1996-11-14 2023-01-20 5902 ENSG00000099901 OTTHUMG00000150490 uc002zro.3 D38076 NM_002882 "CCDS74823|CCDS63408|CCDS13775" P43487 "7616957|10330396" MGI:96269 RGD:1310521 601180 HGNC:9847 "ENST00000430524.6|NM_001278639.2" HGNC:54908 RANBP1P1 RANBP1 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-11-11 389842 ENSG00000228519 NG_027557 HGNC:9848 RANBP2 RAN binding protein 2 protein-coding gene gene with protein product Approved 2q13 02q13 "NUP358|ADANE" nucleoporin 358 ANE1 acute necrotizing encephalopathy 1 (autosomal dominant) "Zinc fingers RANBP2-type |Tetratricopeptide repeat domain containing|Cyclophilin peptidylprolyl isomerases|Nucleoporins" "89|769|909|1051" 1996-11-14 2023-01-20 5903 ENSG00000153201 OTTHUMG00000130981 uc002tem.4 D42063 NM_006267 CCDS2079 P49792 "7724562|19118815" MGI:894323 RGD:1560047 RANBP2 601181 173526 HGNC:9848 "ENST00000283195.11|NM_006267.5" HGNC:9848 -HGNC:9850 RANBP3 RAN binding protein 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 1998-11-30 2023-01-20 8498 ENSG00000031823 OTTHUMG00000180636 uc002mdw.4 Y08698 NM_007322 "CCDS42477|CCDS45935|CCDS42478|CCDS74268" Q9H6Z4 9637251 MGI:1919060 RGD:1589604 603327 HGNC:9850 "ENST00000340578.10|NM_007322.3" +HGNC:9850 RANBP3 RAN binding protein 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 1998-11-30 2023-01-20 8498 ENSG00000031823 OTTHUMG00000180636 uc002mdw.4 Y08698 NM_007322 "CCDS42478|CCDS42477|CCDS45935|CCDS74268" Q9H6Z4 9637251 MGI:1919060 RGD:1589604 603327 HGNC:9850 "ENST00000340578.10|NM_007322.3" HGNC:55312 RANBP3-DT RANBP3 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Divergent transcripts 1990 2020-10-19 2020-10-19 100128568 ENSG00000266983 NR_046376 HGNC:26353 RANBP3L RAN binding protein 3 like protein-coding gene gene with protein product Approved 5p13.2 05p13.2 FLJ25422 RAN binding protein 3-like 2006-08-24 2016-01-27 2023-01-20 202151 ENSG00000164188 OTTHUMG00000131110 uc003jkh.4 BC047660 NM_145000 "CCDS54843|CCDS3918" Q86VV4 25755279 MGI:2444654 RGD:1307559 616391 HGNC:26353 "ENST00000296604.8|NM_145000.5" -HGNC:9851 RANBP6 RAN binding protein 6 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 Armadillo like helical domain containing 1492 1999-12-22 2023-01-20 26953 ENSG00000137040 OTTHUMG00000019512 uc003zjr.4 AF039023 NM_012416 "CCDS6467|CCDS78378" O60518 MGI:2683212 RGD:1305165 HGNC:9851 "ENST00000259569.6|NM_012416.4" +HGNC:9851 RANBP6 RAN binding protein 6 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 Armadillo like helical domain containing 1492 1999-12-22 2023-01-20 26953 ENSG00000137040 OTTHUMG00000019512 uc003zjr.4 AF039023 NM_012416 "CCDS78378|CCDS6467" O60518 MGI:2683212 RGD:1305165 HGNC:9851 "ENST00000259569.6|NM_012416.4" HGNC:13727 RANBP9 RAN binding protein 9 protein-coding gene gene with protein product Approved 6p23 06p23 RanBPM Ran Binding Protein in the Microtubule organizing center CTLH complex 1561 2000-12-04 2023-01-20 10048 ENSG00000010017 OTTHUMG00000015642 uc003nbb.3 AB008515 NM_005493 CCDS4529 Q96S59 9817760 MGI:1928741 RGD:1561940 603854 HGNC:13727 "ENST00000011619.6|NM_005493.3" HGNC:29285 RANBP10 RAN binding protein 10 protein-coding gene gene with protein product Approved 16q22 16q22 KIAA1464 2004-08-19 2023-01-20 57610 ENSG00000141084 OTTHUMG00000184044 uc002eud.4 AB040897 NM_020850 "CCDS92180|CCDS81999|CCDS32469" Q6VN20 14684163 MGI:1921584 RGD:1311587 614031 HGNC:29285 "ENST00000317506.8|NM_020850.3" HGNC:14428 RANBP17 RAN binding protein 17 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 Armadillo like helical domain containing 1492 2001-01-22 2023-01-20 64901 ENSG00000204764 OTTHUMG00000163203 uc003mba.4 AF222747 NM_022897 CCDS34287 Q9H2T7 11024021 MGI:1929706 RGD:1562576 606141 HGNC:14428 "ENST00000523189.6|NM_022897.5" HGNC:19734 RANBP20P RAN binding protein 20 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2003-01-13 2014-11-19 326627 ENSG00000259144 OTTHUMG00000171013 NG_002609 PGOHUM00000262206 HGNC:19734 HGNC:9854 RANGAP1 Ran GTPase activating protein 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "Fug1|KIAA1835" SD segregation distorter homolog (Drosophila) MicroRNA protein coding host genes 1691 1998-02-26 2023-01-20 5905 ENSG00000100401 OTTHUMG00000150940 uc003azu.5 X82260 NM_002883 CCDS14012 P46060 7878053 MGI:103071 RGD:1310380 602362 470954 HGNC:9854 "ENST00000356244.8|NM_002883.4" -HGNC:17679 RANGRF RAN guanine nucleotide release factor protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MOG1|HSPC165|HSPC236|RANGNRF" MOG1 homolog (S. cerevisiae) 2007-06-21 2023-01-20 29098 ENSG00000108961 OTTHUMG00000178473 uc002gkv.4 AF151070 NM_016492 "CCDS82066|CCDS54087|CCDS54086|CCDS11137" Q9HD47 11290418 MGI:1889073 RGD:1563195 607954 470676 HGNC:17679 "ENST00000226105.11|NM_016492.5" HGNC:17679 +HGNC:17679 RANGRF RAN guanine nucleotide release factor protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MOG1|HSPC165|HSPC236|RANGNRF" MOG1 homolog (S. cerevisiae) 2007-06-21 2023-01-20 29098 ENSG00000108961 OTTHUMG00000178473 uc002gkv.4 AF151070 NM_016492 "CCDS54086|CCDS11137|CCDS82066|CCDS54087" Q9HD47 11290418 MGI:1889073 RGD:1563195 607954 470676 HGNC:17679 "ENST00000226105.11|NM_016492.5" HGNC:17679 HGNC:21631 RANP1 RAN pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 Em:AB014080.2 RAN, member RAS oncogene family pseudogene 1 2003-07-02 2019-01-22 2019-01-22 221547 ENSG00000236603 OTTHUMG00000031142 AB088093 NG_002749 HGNC:21631 HGNC:39857 RANP2 RAN pseudogene 2 pseudogene pseudogene Approved 7q35 07q35 RAN, member RAS oncogene family pseudogene 2 2011-04-05 2019-01-22 2019-01-22 100874191 ENSG00000232391 OTTHUMG00000152745 NG_007092 PGOHUM00000233636 HGNC:39857 HGNC:39858 RANP3 RAN pseudogene 3 pseudogene pseudogene Approved 11q13.4 11q13.4 RAN, member RAS oncogene family pseudogene 3 2011-04-05 2019-01-22 2019-01-22 100874227 ENSG00000254500 OTTHUMG00000165622 NG_032364 PGOHUM00000242805 HGNC:39858 @@ -27674,34 +27677,34 @@ HGNC:39863 RANP8 RAN pseudogene 8 pseudogene pseudogene Approved 13q12.11 13q12. HGNC:39864 RANP9 RAN pseudogene 9 pseudogene pseudogene Approved 8p12 08p12 RAN, member RAS oncogene family pseudogene 9 2011-04-05 2019-01-22 2019-01-22 100874193 ENSG00000253393 OTTHUMG00000163933 NG_032366 PGOHUM00000249614 HGNC:39864 HGNC:9855 RAP1A RAP1A, member of RAS oncogene family protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "KREV-1|SMGP21" RAS type GTPase family 389 1989-06-30 2023-01-20 5906 ENSG00000116473 OTTHUMG00000011959 uc001ebi.4 BC014086 NM_002884 CCDS840 P62834 3143720 MGI:97852 RGD:1359694 179520 448950 HGNC:9855 "ENST00000369709.4|NM_002884.4" HGNC:9856 RAP1AP RAP1A, member of RAS oncogene family pseudogene pseudogene pseudogene Approved 14q24.3 14q24.3 "KREV1P|SMGP21A" 1993-07-27 2017-10-30 5907 ENSG00000258769 OTTHUMG00000171213 NG_004799 8449039 PGOHUM00000292726 HGNC:9856 -HGNC:9857 RAP1B RAP1B, member of RAS oncogene family protein-coding gene gene with protein product Approved 12q15 12q15 "K-REV|RAL1B|DKFZp586H0723" RAS type GTPase family 389 1989-06-30 2023-01-20 5908 ENSG00000127314 OTTHUMG00000133660 uc001suc.5 NM_001010942 "CCDS58254|CCDS58252|CCDS58253|CCDS8984" P61224 "3137530|12089143" MGI:894315 RGD:620577 179530 455925 HGNC:9857 "ENST00000250559.14|NM_001010942.3" HGNC:9857 +HGNC:9857 RAP1B RAP1B, member of RAS oncogene family protein-coding gene gene with protein product Approved 12q15 12q15 "K-REV|RAL1B|DKFZp586H0723" RAS type GTPase family 389 1989-06-30 2023-01-20 5908 ENSG00000127314 OTTHUMG00000133660 uc001suc.5 NM_001010942 "CCDS58252|CCDS58253|CCDS8984|CCDS58254" P61224 "3137530|12089143" MGI:894315 RGD:620577 179530 455925 HGNC:9857 "ENST00000250559.14|NM_001010942.3" HGNC:9857 HGNC:55079 RAP1BL RAP1B like (pseudogene) pseudogene pseudogene Approved 5q13.3 05q13.3 hRap1B-retro 2020-06-18 2020-06-18 643752 ENSG00000254893 NG_012429 A6NIZ1 16307016 MGI:894315 HGNC:49780 RAP1BP1 RAP1B pseudogene 1 pseudogene pseudogene Approved 9p22.1 09p22.1 RAP1B, member of RAS oncogene family pseudogene 1 2014-02-14 2020-06-17 2020-06-17 100506390 ENSG00000236857 OTTHUMG00000019603 NG_030297 PGOHUM00000260453 HGNC:49780 HGNC:49781 RAP1BP2 RAP1B pseudogene 2 pseudogene pseudogene Approved 3q13.11 03q13.11 RAP1B, member of RAS oncogene family pseudogene 2 2014-02-14 2020-06-17 2020-06-17 100128179 ENSG00000214405 OTTHUMG00000159183 NG_030384 PGOHUM00000250296 HGNC:49781 HGNC:49782 RAP1BP3 RAP1B pseudogene 3 pseudogene pseudogene Approved 6q22.1 06q22.1 RAP1B, member of RAS oncogene family pseudogene 3 2014-02-14 2020-06-17 2020-06-17 100132917 ENSG00000219703 OTTHUMG00000015452 NG_030190 PGOHUM00000243752 HGNC:49782 -HGNC:9858 RAP1GAP RAP1 GTPase activating protein protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA0474|RAP1GAP1|RAP1GAPII" RAP1GA1 RAP1, GTPase activating protein 1 1993-04-12 2006-04-12 2006-04-12 2023-01-20 5909 ENSG00000076864 OTTHUMG00000007513 uc001bex.4 BC054490 NM_002885 "CCDS218|CCDS53276|CCDS53277|CCDS81276" P47736 1904317 MGI:109338 RGD:1309908 600278 HGNC:9858 "ENST00000374765.9|NM_002885.4" -HGNC:29176 RAP1GAP2 RAP1 GTPase activating protein 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 KIAA1039 GARNL4 "GTPase activating RANGAP domain-like 4|GTPase activating Rap/RanGAP domain-like 4" 2004-02-24 2009-09-14 2009-09-14 2023-01-20 23108 ENSG00000132359 OTTHUMG00000177642 uc010ckd.4 AB028962 NM_001100398 "CCDS92224|CCDS92223|CCDS82035|CCDS45574|CCDS45573" Q684P5 15632203 MGI:3028623 RGD:1304590 618714 HGNC:29176 "ENST00000254695.13|NM_015085.5" -HGNC:9859 RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 protein-coding gene gene with protein product Approved 4q23 04q23 SmgGDS RAP1, GTP-GDP dissociation stimulator 1 Armadillo repeat containing 409 1994-03-23 2016-02-29 2023-01-20 5910 ENSG00000138698 OTTHUMG00000160987 uc003htx.5 NM_001100426 "CCDS43254|CCDS47108|CCDS47105|CCDS47107|CCDS43253|CCDS47106" P52306 "8262526|17951244" MGI:2385189 RGD:1308558 RAP1GDS1 179502 HGNC:9859 "ENST00000408927.8|NM_001100427.2" +HGNC:9858 RAP1GAP RAP1 GTPase activating protein protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA0474|RAP1GAP1|RAP1GAPII" RAP1GA1 RAP1, GTPase activating protein 1 1993-04-12 2006-04-12 2006-04-12 2023-01-20 5909 ENSG00000076864 OTTHUMG00000007513 uc001bex.4 BC054490 NM_002885 "CCDS81276|CCDS218|CCDS53277|CCDS53276" P47736 1904317 MGI:109338 RGD:1309908 600278 HGNC:9858 "ENST00000374765.9|NM_002885.4" +HGNC:29176 RAP1GAP2 RAP1 GTPase activating protein 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 KIAA1039 GARNL4 "GTPase activating RANGAP domain-like 4|GTPase activating Rap/RanGAP domain-like 4" 2004-02-24 2009-09-14 2009-09-14 2023-01-20 23108 ENSG00000132359 OTTHUMG00000177642 uc010ckd.4 AB028962 NM_001100398 "CCDS92224|CCDS45574|CCDS82035|CCDS45573|CCDS92223" Q684P5 15632203 MGI:3028623 RGD:1304590 618714 HGNC:29176 "ENST00000254695.13|NM_015085.5" +HGNC:9859 RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 protein-coding gene gene with protein product Approved 4q23 04q23 SmgGDS RAP1, GTP-GDP dissociation stimulator 1 Armadillo repeat containing 409 1994-03-23 2016-02-29 2023-01-20 5910 ENSG00000138698 OTTHUMG00000160987 uc003htx.5 NM_001100426 "CCDS47108|CCDS43253|CCDS47105|CCDS47106|CCDS47107|CCDS43254" P52306 "8262526|17951244" MGI:2385189 RGD:1308558 RAP1GDS1 179502 HGNC:9859 "ENST00000408927.8|NM_001100427.2" HGNC:9861 RAP2A RAP2A, member of RAS oncogene family protein-coding gene gene with protein product Approved 13q32.1 13q32.1 K-REV RAP2 RAS type GTPase family 389 1989-06-30 2023-01-20 5911 ENSG00000125249 OTTHUMG00000017240 uc001vnd.4 AF205602 NM_021033 CCDS9485 P10114 MGI:97855 RGD:620590 179540 HGNC:9861 "ENST00000245304.5|NM_021033.7" HGNC:9862 RAP2B RAP2B, member of RAS oncogene family protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "Ras-related protein RAP-2B|small GTP binding protein|Ras family small GTP binding protein RAP2B" RAS type GTPase family 389 1991-06-06 2023-01-20 5912 ENSG00000181467 OTTHUMG00000159655 uc003ezr.5 NM_002886 CCDS3170 P61225 2118648 MGI:1921262 RGD:620591 179541 HGNC:9862 "ENST00000323534.5|NM_002886.4" HGNC:21165 RAP2C RAP2C, member of RAS oncogene family protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 DKFZp313B211 RAS type GTPase family 389 2003-05-22 2023-01-20 57826 ENSG00000123728 OTTHUMG00000022424 uc004ewp.5 BC051467 NM_021183 "CCDS14632|CCDS76024" Q9Y3L5 MGI:1919315 RGD:1588562 301016 HGNC:21165 "ENST00000370874.2|NM_001271186.2" HGNC:40957 RAP2C-AS1 RAP2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.2 Xq26.2 Antisense RNAs 1987 2013-09-19 2014-11-19 101928578 ENSG00000232160 OTTHUMG00000022425 NR_110410 RAP2C-AS1 HGNC:40957 HGNC:49146 RAP2CP1 RAP2C pseudogene 1 pseudogene pseudogene Approved 14q32.32 14q32.32 2013-09-19 2020-07-10 106480249 ENSG00000270938 OTTHUMG00000184396 NG_043873 PGOHUM00000248277 HGNC:49146 -HGNC:4568 RAPGEF1 Rap guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 C3G GRF2 "guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)|Rap guanine nucleotide exchange factor (GEF) 1" 1994-12-13 2004-03-02 2015-11-09 2023-01-20 2889 ENSG00000107263 OTTHUMG00000020829 uc064wrm.1 BC041710 NM_005312 "CCDS94521|CCDS78450|CCDS48048|CCDS48047" Q13905 "7959692|7512734" MGI:104580 RGD:619793 600303 HGNC:4568 "ENST00000683357.1|NM_001377935.1" -HGNC:16854 RAPGEF2 Rap guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "PDZ-GEF1|RA-GEF|DKFZP586O1422|KIAA0313" Rap GEP PDZGEF1 "PDZ domain containing guanine nucleotide exchange factor (GEF) 1|Rap guanine nucleotide exchange factor (GEF) 2" "PDZ domain containing|MicroRNA protein coding host genes" "1220|1691" 2003-05-20 2004-03-01 2015-11-09 2023-01-20 9693 ENSG00000109756 OTTHUMG00000161451 uc003iqg.5 AB002311 NM_014247 "CCDS93663|CCDS43277|CCDS93662" Q9Y4G8 "9205841|10934204" MGI:2659071 RGD:1306434 609530 HGNC:16854 "ENST00000691494.1|NM_001394067.2" HGNC:16854 +HGNC:4568 RAPGEF1 Rap guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 C3G GRF2 "guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)|Rap guanine nucleotide exchange factor (GEF) 1" 1994-12-13 2004-03-02 2015-11-09 2023-01-20 2889 ENSG00000107263 OTTHUMG00000020829 uc064wrm.1 BC041710 NM_005312 "CCDS94521|CCDS48048|CCDS78450|CCDS48047" Q13905 "7959692|7512734" MGI:104580 RGD:619793 600303 HGNC:4568 "ENST00000683357.1|NM_001377935.1" +HGNC:16854 RAPGEF2 Rap guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "PDZ-GEF1|RA-GEF|DKFZP586O1422|KIAA0313" Rap GEP PDZGEF1 "PDZ domain containing guanine nucleotide exchange factor (GEF) 1|Rap guanine nucleotide exchange factor (GEF) 2" "PDZ domain containing|MicroRNA protein coding host genes" "1220|1691" 2003-05-20 2004-03-01 2015-11-09 2023-01-20 9693 ENSG00000109756 OTTHUMG00000161451 uc003iqg.5 AB002311 NM_014247 "CCDS43277|CCDS93663|CCDS93662" Q9Y4G8 "9205841|10934204" MGI:2659071 RGD:1306434 609530 HGNC:16854 "ENST00000691494.1|NM_001394067.2" HGNC:16854 HGNC:16629 RAPGEF3 Rap guanine nucleotide exchange factor 3 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "cAMP-GEFI|EPAC|bcm910" exchange protein directly activated by cAMP 1 "RAP guanine-nucleotide-exchange factor (GEF) 3|Rap guanine nucleotide exchange factor (GEF) 3" 2004-03-01 2015-11-09 2023-01-20 10411 ENSG00000079337 OTTHUMG00000133667 uc058nbe.1 AK092448 NM_006105 "CCDS31784|CCDS41775" O95398 "10777494|9856955" MGI:2441741 RGD:621869 606057 objectId:1292 HGNC:16629 "ENST00000449771.7|NM_001098531.4" -HGNC:16626 RAPGEF4 Rap guanine nucleotide exchange factor 4 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "cAMP-GEFII|CGEF2" "cAMP-regulated guanine nucleotide exchange factor II|exchange protein directly activated by cAMP 2" "RAP guanine-nucleotide-exchange factor (GEF) 4|Rap guanine nucleotide exchange factor (GEF) 4" 2004-03-01 2015-11-09 2023-01-20 11069 ENSG00000091428 OTTHUMG00000133677 uc002uhv.5 U78516 NM_007023 "CCDS74604|CCDS63061|CCDS42775|CCDS42776|CCDS92899|CCDS63060" Q8WZA2 "10777494|9856955" MGI:1917723 RGD:621886 606058 objectId:1293 HGNC:16626 "ENST00000397081.8|NM_007023.4" HGNC:16626 +HGNC:16626 RAPGEF4 Rap guanine nucleotide exchange factor 4 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "cAMP-GEFII|CGEF2" "cAMP-regulated guanine nucleotide exchange factor II|exchange protein directly activated by cAMP 2" "RAP guanine-nucleotide-exchange factor (GEF) 4|Rap guanine nucleotide exchange factor (GEF) 4" 2004-03-01 2015-11-09 2023-01-20 11069 ENSG00000091428 OTTHUMG00000133677 uc002uhv.5 U78516 NM_007023 "CCDS63060|CCDS63061|CCDS42775|CCDS74604|CCDS42776|CCDS92899" Q8WZA2 "10777494|9856955" MGI:1917723 RGD:621886 606058 objectId:1293 HGNC:16626 "ENST00000397081.8|NM_007023.4" HGNC:16626 HGNC:28081 RAPGEF4-AS1 RAPGEF4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 RAPGEF4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-19 91149 ENSG00000228016 OTTHUMG00000154091 uc002uht.4 AL157450 NR_026995 RAPGEF4-AS1 HGNC:28081 HGNC:16862 RAPGEF5 Rap guanine nucleotide exchange factor 5 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "KIAA0277|GFR|MR-GEF" M-Ras-regulated GEF Rap guanine nucleotide exchange factor (GEF) 5 2004-03-01 2015-11-09 2023-01-20 9771 ENSG00000136237 OTTHUMG00000152525 uc003svg.4 D87467 NM_012294 "CCDS55093|CCDS94064" Q92565 "9039502|10486569" MGI:2444365 RGD:1561668 609527 HGNC:16862 "ENST00000665637.1|NM_012294.5" -HGNC:20655 RAPGEF6 Rap guanine nucleotide exchange factor 6 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "RA-GEF-2|PDZ-GEF2" PDZGEF2 "PDZ domain containing guanine nucleotide exchange factor (GEF) 2|Rap guanine nucleotide exchange factor (GEF) 6" PDZ domain containing 1220 2003-09-03 2004-03-02 2015-11-09 2023-01-20 51735 ENSG00000158987 OTTHUMG00000162683 uc003kvn.2 AF117947 NM_016340 "CCDS54899|CCDS54897|CCDS54898|CCDS34225|CCDS54900|CCDS54901" Q8TEU7 "11524421|12095257" MGI:2384761 RGD:1307645 610499 HGNC:20655 "ENST00000509018.6|NM_016340.6" -HGNC:17428 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 Link-GEFII Link guanine nucleotide exchange factor II "RAP guanine-nucleotide-exchange factor (GEF)-like 1|Rap guanine nucleotide exchange factor (GEF)-like 1" MicroRNA protein coding host genes 1691 2004-03-01 2015-11-09 2023-01-20 51195 ENSG00000108352 OTTHUMG00000133325 uc032fib.2 AF117946 NM_016339 "CCDS77023|CCDS77022|CCDS11363" Q9UHV5 MGI:3611446 RGD:1563269 HGNC:17428 "ENST00000620260.6|NM_016339.6" +HGNC:20655 RAPGEF6 Rap guanine nucleotide exchange factor 6 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "RA-GEF-2|PDZ-GEF2" PDZGEF2 "PDZ domain containing guanine nucleotide exchange factor (GEF) 2|Rap guanine nucleotide exchange factor (GEF) 6" PDZ domain containing 1220 2003-09-03 2004-03-02 2015-11-09 2023-01-20 51735 ENSG00000158987 OTTHUMG00000162683 uc003kvn.2 AF117947 NM_016340 "CCDS54898|CCDS54899|CCDS54897|CCDS34225|CCDS54900|CCDS54901" Q8TEU7 "11524421|12095257" MGI:2384761 RGD:1307645 610499 HGNC:20655 "ENST00000509018.6|NM_016340.6" +HGNC:17428 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 Link-GEFII Link guanine nucleotide exchange factor II "RAP guanine-nucleotide-exchange factor (GEF)-like 1|Rap guanine nucleotide exchange factor (GEF)-like 1" MicroRNA protein coding host genes 1691 2004-03-01 2015-11-09 2023-01-20 51195 ENSG00000108352 OTTHUMG00000133325 uc032fib.2 AF117946 NM_016339 "CCDS77022|CCDS11363|CCDS77023" Q9UHV5 MGI:3611446 RGD:1563269 HGNC:17428 "ENST00000620260.6|NM_016339.6" HGNC:14436 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 KIAA1681 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18 "ALS2CR9|ALS2CR18" amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9 Pleckstrin homology domain containing 682 2001-01-26 2003-11-26 2003-11-25 2023-01-20 65059 ENSG00000173166 OTTHUMG00000132876 uc002vad.5 AJ584699 NM_025252 "CCDS2360|CCDS2359" Q70E73 MGI:1924550 RGD:1308387 609035 HGNC:14436 "ENST00000319170.10|NM_213589.3" -HGNC:9863 RAPSN receptor associated protein of the synapse protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "RNF205|CMS1D|CMS1E" rapsyn receptor-associated protein of the synapse, 43kD Ring finger proteins 58 1996-03-12 2015-11-23 2023-01-20 5913 ENSG00000165917 OTTHUMG00000166891 uc001nfi.2 NM_005055 "CCDS7937|CCDS7936" Q13702 8812503 MGI:99422 RGD:1311592 601592 118222 HGNC:9863 "ENST00000298854.7|NM_005055.5" HGNC:9863 -HGNC:9864 RARA retinoic acid receptor alpha protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "RAR|NR1B1|RARalpha|RAR-alpha" retinoic acid receptor, alpha Retinoic acid receptors 2069 1988-06-09 2016-01-27 2023-01-20 5914 ENSG00000131759 OTTHUMG00000133328 uc002huk.3 X06538 NM_000964 "CCDS45671|CCDS11366|CCDS42317" P10276 "2825036|8244378" MGI:97856 RGD:3534 LRG_1070|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1070.xml RARA 180240 118227 objectId:590 HGNC:9864 "ENST00000254066.10|NM_000964.4" HGNC:9864 +HGNC:9863 RAPSN receptor associated protein of the synapse protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "RNF205|CMS1D|CMS1E" rapsyn receptor-associated protein of the synapse, 43kD Ring finger proteins 58 1996-03-12 2015-11-23 2023-01-20 5913 ENSG00000165917 OTTHUMG00000166891 uc001nfi.2 NM_005055 "CCDS7936|CCDS7937" Q13702 8812503 MGI:99422 RGD:1311592 601592 118222 HGNC:9863 "ENST00000298854.7|NM_005055.5" HGNC:9863 +HGNC:9864 RARA retinoic acid receptor alpha protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "RAR|NR1B1|RARalpha|RAR-alpha" retinoic acid receptor, alpha Retinoic acid receptors 2069 1988-06-09 2016-01-27 2023-01-20 5914 ENSG00000131759 OTTHUMG00000133328 uc002huk.3 X06538 NM_000964 "CCDS42317|CCDS45671|CCDS11366" P10276 "2825036|8244378" MGI:97856 RGD:3534 LRG_1070|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1070.xml RARA 180240 118227 objectId:590 HGNC:9864 "ENST00000254066.10|NM_000964.4" HGNC:9864 HGNC:49577 RARA-AS1 RARA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 Antisense RNAs 1987 2014-01-17 2014-01-20 101929693 ENSG00000265666 OTTHUMG00000179631 BC038432 NR_110861 RARA-AS1 HGNC:49577 -HGNC:9865 RARB retinoic acid receptor beta protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "HAP|NR1B2|RRB2|RARbeta|RAR-beta" retinoic acid receptor, beta Retinoic acid receptors 2069 1989-05-16 2016-01-27 2023-01-20 5915 ENSG00000077092 OTTHUMG00000130480 uc003cdh.4 Y00291 "NM_000965|NM_016152" "CCDS93228|CCDS46775|CCDS93227|CCDS2642" P10826 MGI:97857 RGD:3535 180220 368114 objectId:591 HGNC:9865 "ENST00000330688.9|NM_000965.5" HGNC:9865 +HGNC:9865 RARB retinoic acid receptor beta protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "HAP|NR1B2|RRB2|RARbeta|RAR-beta" retinoic acid receptor, beta Retinoic acid receptors 2069 1989-05-16 2016-01-27 2023-01-20 5915 ENSG00000077092 OTTHUMG00000130480 uc003cdh.4 Y00291 "NM_000965|NM_016152" "CCDS93228|CCDS46775|CCDS2642|CCDS93227" P10826 MGI:97857 RGD:3535 180220 368114 objectId:591 HGNC:9865 "ENST00000330688.9|NM_000965.5" HGNC:9865 HGNC:54077 RARB-AS1 RARB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.2 03p24.2 Antisense RNAs 1987 2018-09-28 2018-09-28 105376997 NR_134933 HGNC:54077 -HGNC:9866 RARG retinoic acid receptor gamma protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "RARC|NR1B3|RARgamma|RAR-gamma" retinoic acid receptor, gamma Retinoic acid receptors 2069 1991-02-05 2016-01-27 2023-01-20 5916 ENSG00000172819 OTTHUMG00000048077 uc001scf.4 M57707 NM_000966 "CCDS8850|CCDS58236|CCDS41790|CCDS58237" P13631 1849262 MGI:97858 RGD:1583230 180190 objectId:592 HGNC:9866 "ENST00000425354.7|NM_000966.6" +HGNC:9866 RARG retinoic acid receptor gamma protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "RARC|NR1B3|RARgamma|RAR-gamma" retinoic acid receptor, gamma Retinoic acid receptors 2069 1991-02-05 2016-01-27 2023-01-20 5916 ENSG00000172819 OTTHUMG00000048077 uc001scf.4 M57707 NM_000966 "CCDS41790|CCDS58237|CCDS58236|CCDS8850" P13631 1849262 MGI:97858 RGD:1583230 180190 objectId:592 HGNC:9866 "ENST00000425354.7|NM_000966.6" HGNC:9867 RARRES1 retinoic acid receptor responder 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "TIG1|LXNL" latexin-like retinoic acid receptor responder (tazarotene induced) 1 1998-02-03 2016-03-15 2023-01-20 5918 ENSG00000118849 OTTHUMG00000158834 uc003fci.4 U27185 NM_002888 P49788 "8601727|9270552" MGI:1924461 RGD:1309509 605090 HGNC:9867 "ENST00000237696.10|NM_206963.2" HGNC:9868 RARRES2 retinoic acid receptor responder 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "TIG2|HP10433" chemerin retinoic acid receptor responder (tazarotene induced) 2 Receptor ligands 542 1998-02-03 2016-03-15 2023-01-20 5919 ENSG00000106538 OTTHUMG00000158325 uc003wha.4 U77594 NM_002889 CCDS5902 Q99969 "9270552|17767914" MGI:1918910 RGD:1309874 601973 ligandId:2945 HGNC:9868 "ENST00000223271.8|NM_002889.4" HGNC:48700 RARRES2P1 retinoic acid receptor responder 2 pseudogene 1 pseudogene pseudogene Approved 3p12.3 03p12.3 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 1 2013-06-06 2016-03-15 2016-03-15 643255 ENSG00000241622 OTTHUMG00000158964 NG_029071 PGOHUM00000299480 HGNC:48700 @@ -27717,65 +27720,65 @@ HGNC:51742 RARRES2P10 retinoic acid receptor responder 2 pseudogene 10 pseudogen HGNC:51743 RARRES2P11 retinoic acid receptor responder 2 pseudogene 11 pseudogene pseudogene Approved 20q11.1 20q11.1 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 11 2015-05-18 2016-03-15 2016-11-09 107075248 ENSG00000283123 OTTHUMG00000191525 NG_046383 PGOHUM00000296944 HGNC:51743 HGNC:9870 RARS1 arginyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5q34 05q34 DALRD1 arginine tRNA ligase 1, cytoplasmic RARS arginyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 1996-10-26 2019-07-15 2019-07-15 2023-01-20 5917 ENSG00000113643 OTTHUMG00000130411 uc003lzx.4 BC000528 NM_002887 CCDS4367 P54136 7590355 MGI:1914297 RGD:1309215 107820 443021 6.1.1.19 HGNC:9870 "ENST00000231572.8|NM_002887.4" HGNC:9870 HGNC:49893 RARS1P1 arginyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 12p11.23 12p11.23 RARSP1 arginyl-tRNA synthetase pseudogene 1 2014-03-18 2019-07-15 2019-07-15 2019-07-15 100419829 ENSG00000257037 OTTHUMG00000169206 NG_024072 PGOHUM00000239712 HGNC:49893 -HGNC:21406 RARS2 arginyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6q15 06q15 "MGC14993|MGC23778|PRO1992|dJ382I10.6|DALRD2" arginine tRNA ligase 2, mitochondrial (putative) RARSL arginyl-tRNA synthetase-like Aminoacyl tRNA synthetases, Class I 131 2003-06-13 2007-02-23 2007-09-27 2023-01-20 57038 ENSG00000146282 OTTHUMG00000015178 uc003pme.4 AK093934 NM_020320 "CCDS93968|CCDS5011|CCDS93970|CCDS93969" Q5T160 17847012 MGI:1923596 RGD:1305419 611524 159426 6.1.1.19 HGNC:21406 "ENST00000369536.10|NM_020320.5" HGNC:21406 -HGNC:9871 RASA1 RAS p21 protein activator 1 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "GAP|CM-AVM|p120GAP|p120RASGAP|p120" "capillary malformation-arteriovenous malformation|p120 RAS GTPase activating protein|Ras GTPase-activating protein 1" RASA RAS p21 protein activator (GTPase activating protein) 1 "Pleckstrin homology domain containing|SH2 domain containing|C2 and RasGAP domain containing" "682|741|830" 1989-06-30 2016-01-28 2023-01-20 5921 ENSG00000145715 OTTHUMG00000162605 uc003kiw.4 NM_002890 "CCDS34200|CCDS47243" P20936 15917201 MGI:97860 RGD:3537 SH2base: Database for pathogenic SH2 domain mutations|http://structure.bmc.lu.se/idbase/SH2base/ 139150 118231 HGNC:9871 "ENST00000274376.11|NM_002890.3" HGNC:9871 +HGNC:21406 RARS2 arginyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6q15 06q15 "MGC14993|MGC23778|PRO1992|dJ382I10.6|DALRD2" arginine tRNA ligase 2, mitochondrial (putative) RARSL arginyl-tRNA synthetase-like Aminoacyl tRNA synthetases, Class I 131 2003-06-13 2007-02-23 2007-09-27 2023-01-20 57038 ENSG00000146282 OTTHUMG00000015178 uc003pme.4 AK093934 NM_020320 "CCDS93969|CCDS93970|CCDS5011|CCDS93968" Q5T160 17847012 MGI:1923596 RGD:1305419 611524 159426 6.1.1.19 HGNC:21406 "ENST00000369536.10|NM_020320.5" HGNC:21406 +HGNC:9871 RASA1 RAS p21 protein activator 1 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "GAP|CM-AVM|p120GAP|p120RASGAP|p120" "capillary malformation-arteriovenous malformation|p120 RAS GTPase activating protein|Ras GTPase-activating protein 1" RASA RAS p21 protein activator (GTPase activating protein) 1 "Pleckstrin homology domain containing|SH2 domain containing|C2 and RasGAP domain containing" "682|741|830" 1989-06-30 2016-01-28 2023-01-20 5921 ENSG00000145715 OTTHUMG00000162605 uc003kiw.4 NM_002890 "CCDS47243|CCDS34200" P20936 15917201 MGI:97860 RGD:3537 SH2base: Database for pathogenic SH2 domain mutations|http://structure.bmc.lu.se/idbase/SH2base/ 139150 118231 HGNC:9871 "ENST00000274376.11|NM_002890.3" HGNC:9871 HGNC:9872 RASA2 RAS p21 protein activator 2 protein-coding gene gene with protein product Approved 3q23 03q23 GAP1M Ras GTPase-activating protein 2 "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 1996-11-15 2023-01-20 5922 ENSG00000155903 OTTHUMG00000160221 uc003etz.2 AF115573 NM_006506 CCDS3117 Q15283 8699317 MGI:2149960 RGD:3538 601589 411370 HGNC:9872 "ENST00000286364.9|NM_006506.5" HGNC:9872 -HGNC:41376 RASA2-IT1 RASA2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 RASA2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874298 ENSG00000250170 OTTHUMG00000160224 uc062omd.1 RASA2-IT1 +HGNC:41376 RASA2-IT1 RASA2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 RASA2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874298 ENSG00000250170 OTTHUMG00000160224 uc062omd.1 NR_046792 RASA2-IT1 HGNC:20331 RASA3 RAS p21 protein activator 3 protein-coding gene gene with protein product Approved 13q34 13q34 "GAP1IP4BP|GAPIII" "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 2003-01-29 2023-01-20 22821 ENSG00000185989 OTTHUMG00000017399 uc001vui.4 NM_007368 CCDS32016 Q14644 "7637787|9382842" MGI:1197013 RGD:69365 605182 HGNC:20331 "ENST00000334062.8|NM_007368.4" HGNC:39938 RASA3-IT1 RASA3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 RASA3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-04-13 2015-02-25 2015-02-25 100874321 ENSG00000232487 OTTHUMG00000017400 uc058yoy.1 NR_046544 RASA3-IT1 -HGNC:23181 RASA4 RAS p21 protein activator 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "KIAA0538|CAPRI|GAPL" C2 and RasGAP domain containing 830 2003-12-22 2023-01-20 10156 ENSG00000105808 OTTHUMG00000150383 uc003vae.4 AB011110 NM_006989 "CCDS47674|CCDS5725" O43374 11448776 MGI:1858600 607943 HGNC:23181 "ENST00000262940.12|NM_006989.6" +HGNC:23181 RASA4 RAS p21 protein activator 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "KIAA0538|CAPRI|GAPL" C2 and RasGAP domain containing 830 2003-12-22 2023-01-20 10156 ENSG00000105808 OTTHUMG00000150383 uc003vae.4 AB011110 NM_006989 "CCDS5725|CCDS47674" O43374 11448776 MGI:1858600 607943 HGNC:23181 "ENST00000262940.12|NM_006989.6" HGNC:35202 RASA4B RAS p21 protein activator 4B protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 2008-10-24 2023-01-20 100271927 ENSG00000170667 OTTHUMG00000022944 uc003uzu.2 NM_001277335 "CCDS59506|CCDS94160" C9J798 MGI:1858600 RGD:1565457 HGNC:35202 "ENST00000465829.6|NM_001367767.2" HGNC:44185 RASA4CP RAS p21 protein activator 4C, pseudogene pseudogene pseudogene Approved 7p13 07p13 2012-06-30 2012-07-04 401331 ENSG00000228903 OTTHUMG00000155354 NR_024116 HGNC:44185 HGNC:44226 RASA4DP RAS p21 protein activator 4D, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 2012-07-20 2021-07-20 2021-07-20 100133005 ENSG00000233297 OTTHUMG00000157719 NG_011686 HGNC:44226 -HGNC:9873 RASAL1 RAS protein activator like 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 RASAL RAS protein activator like 1 (GAP1 like) "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 1998-11-04 2016-03-11 2023-01-20 8437 ENSG00000111344 OTTHUMG00000169705 uc001tum.3 AF086713 NM_004658 "CCDS9165|CCDS55889|CCDS73529|CCDS55888" O95294 9751798 MGI:1330842 RGD:1311820 604118 HGNC:9873 "ENST00000548055.2|NM_001301202.2" HGNC:9873 -HGNC:9874 RASAL2 RAS protein activator like 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 nGAP "Ras GTPase activating protein-like|Ras protein activator like 1" "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 2000-03-06 2023-01-20 9462 ENSG00000075391 OTTHUMG00000035022 uc001glq.4 AF047711 NM_170692 "CCDS1322|CCDS1321" Q9UJF2 9877179 MGI:2443881 RGD:1307566 606136 HGNC:9874 "ENST00000367649.8|NM_170692.4" +HGNC:9873 RASAL1 RAS protein activator like 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 RASAL RAS protein activator like 1 (GAP1 like) "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 1998-11-04 2016-03-11 2023-01-20 8437 ENSG00000111344 OTTHUMG00000169705 uc001tum.3 AF086713 NM_004658 "CCDS55888|CCDS55889|CCDS73529|CCDS9165" O95294 9751798 MGI:1330842 RGD:1311820 604118 HGNC:9873 "ENST00000548055.2|NM_001301202.2" HGNC:9873 +HGNC:9874 RASAL2 RAS protein activator like 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 nGAP "Ras GTPase activating protein-like|Ras protein activator like 1" "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 2000-03-06 2023-01-20 9462 ENSG00000075391 OTTHUMG00000035022 uc001glq.4 AF047711 NM_170692 "CCDS1321|CCDS1322" Q9UJF2 9877179 MGI:2443881 RGD:1307566 606136 HGNC:9874 "ENST00000367649.8|NM_170692.4" HGNC:44170 RASAL2-AS1 RASAL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 RASAL2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100302401 ENSG00000224687 OTTHUMG00000040865 uc057noc.1 BC027927 NR_027982 RASAL2-AS1 HGNC:44170 HGNC:26129 RASAL3 RAS protein activator like 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ21438 C2 and RasGAP domain containing 830 2008-12-18 2023-01-20 64926 ENSG00000105122 OTTHUMG00000182450 uc002nbe.3 NM_022904 CCDS46006 Q86YV0 "25652366|30271600" MGI:2444128 RGD:1309019 616561 HGNC:26129 "ENST00000343625.12|NM_022904.3" HGNC:15828 RASD1 ras related dexamethasone induced 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DEXRAS1|AGS1" "ras-related protein|dexamethasone-induced ras-related protein 1|activator of G protein signaling" RAS, dexamethasone-induced 1 2001-06-15 2016-04-01 2023-01-20 51655 ENSG00000108551 OTTHUMG00000059292 uc002gri.4 AF069506 NM_016084 "CCDS11185|CCDS58519" Q9Y272 10947988 MGI:1270848 RGD:619727 605550 HGNC:15828 "ENST00000225688.4|NM_016084.5" HGNC:18229 RASD2 RASD family member 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "TEM2|Rhes|MGC:4834" "tumor endothelial marker 2|Ras homolog enriched in striatum" RASD family, member 2 RAS type GTPase family 389 2002-02-21 2015-11-18 2023-01-20 23551 ENSG00000100302 OTTHUMG00000150607 uc003anx.4 AF279143 NM_014310 CCDS13916 Q96D21 "10947988|10467249|14724584" MGI:1922391 RGD:628594 612842 HGNC:18229 "ENST00000216127.5|NM_014310.4" HGNC:26464 RASEF RAS and EF-hand domain containing protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "FLJ31614|TSG" RAB45 RAB45, member RAS oncogene family "RAB, member RAS oncogene GTPases|EF-hand domain containing" "388|863" 2004-04-29 2004-06-16 2004-06-11 2023-01-20 158158 ENSG00000165105 OTTHUMG00000020100 uc004amo.2 AK056176 NM_152573 CCDS6662 Q8IZ41 "17448446|27724860" MGI:2448565 RGD:1306418 611344 HGNC:26464 "ENST00000376447.4|NM_152573.4" -HGNC:24246 RASGEF1A RasGEF domain family member 1A protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "CG4853|FLJ37817" 2004-02-04 2015-11-09 2023-01-20 221002 ENSG00000198915 OTTHUMG00000018025 uc001jap.3 AK095136 NM_145313 "CCDS60517|CCDS7202" Q8N9B8 19645719 MGI:1917977 RGD:1305836 614531 HGNC:24246 "ENST00000395810.6|NM_145313.4" -HGNC:24881 RASGEF1B RasGEF domain family member 1B protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "GPIG4|FLJ31695" 2004-02-04 2015-11-09 2023-01-20 153020 ENSG00000138670 OTTHUMG00000160890 uc003hmi.2 AK056257 NM_152545 "CCDS75151|CCDS75152|CCDS34022" Q0VAM2 19645719 MGI:2443755 RGD:1562220 614532 HGNC:24881 "ENST00000264400.7|NM_152545.3" +HGNC:24246 RASGEF1A RasGEF domain family member 1A protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "CG4853|FLJ37817" 2004-02-04 2015-11-09 2023-01-20 221002 ENSG00000198915 OTTHUMG00000018025 uc001jap.3 AK095136 NM_145313 "CCDS7202|CCDS60517" Q8N9B8 19645719 MGI:1917977 RGD:1305836 614531 HGNC:24246 "ENST00000395810.6|NM_145313.4" +HGNC:24881 RASGEF1B RasGEF domain family member 1B protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "GPIG4|FLJ31695" 2004-02-04 2015-11-09 2023-01-20 153020 ENSG00000138670 OTTHUMG00000160890 uc003hmi.2 AK056257 NM_152545 "CCDS34022|CCDS75152|CCDS75151" Q0VAM2 19645719 MGI:2443755 RGD:1562220 614532 HGNC:24881 "ENST00000264400.7|NM_152545.3" HGNC:27400 RASGEF1C RasGEF domain family member 1C protein-coding gene gene with protein product Approved 5q35.3 05q35.3 FLJ35841 2004-02-04 2015-11-09 2023-01-20 255426 ENSG00000146090 OTTHUMG00000130914 uc003mlr.4 AK093160 NM_175062 CCDS4452 Q8N431 23469100 MGI:1921813 RGD:1311549 HGNC:27400 "ENST00000361132.9|NM_175062.4" -HGNC:9875 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "CDC25L|CDC25|GRF55|H-GRF55|GNRP|PP13187" CDC25 like (S. cerevisiae) GRF1 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1994-02-11 2015-11-19 2023-01-20 5923 ENSG00000058335 OTTHUMG00000144172 uc002bep.4 M91815 NM_002891 "CCDS10309|CCDS45320|CCDS42065" Q13972 "7684828|1379731" MGI:99694 RGD:620395 606600 HGNC:9875 "ENST00000558480.7|NM_001145648.3" +HGNC:9875 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "CDC25L|CDC25|GRF55|H-GRF55|GNRP|PP13187" CDC25 like (S. cerevisiae) GRF1 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1994-02-11 2015-11-19 2023-01-20 5923 ENSG00000058335 OTTHUMG00000144172 uc002bep.4 M91815 NM_002891 "CCDS45320|CCDS10309|CCDS42065" Q13972 "7684828|1379731" MGI:99694 RGD:620395 606600 HGNC:9875 "ENST00000558480.7|NM_001145648.3" HGNC:9876 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "GRF2|Ras-GRF2" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1996-12-20 2015-11-19 2023-01-20 5924 ENSG00000113319 OTTHUMG00000119015 uc003kha.3 AF023130 NM_006909 CCDS4052 O14827 MGI:109137 RGD:69413 606614 HGNC:9876 "ENST00000265080.9|NM_006909.3" HGNC:40499 RASGRF2-AS1 RASGRF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 CTC-459I6.1 Antisense RNAs 1987 2014-05-20 2014-05-20 2017-03-15 102524628 ENSG00000251450 OTTHUMG00000162539 BM682385 NR_105015 27565812 RASGRF2-AS1 HGNC:40499 -HGNC:9878 RASGRP1 RAS guanyl releasing protein 1 protein-coding gene gene with protein product Approved 15q14 15q14 "CalDAG-GEFII|RASGRP" calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II RAS guanyl releasing protein 1 (calcium and DAG-regulated) EF-hand domain containing 863 1999-06-02 2016-01-18 2023-01-20 10125 ENSG00000172575 OTTHUMG00000172379 uc001zke.5 AF106071 NM_005739 "CCDS45222|CCDS45221|CCDS76733" O95267 "10087292|9789079" MGI:1314635 RGD:3539 603962 objectId:3016 HGNC:9878 "ENST00000310803.10|NM_005739.4" HGNC:9878 +HGNC:9878 RASGRP1 RAS guanyl releasing protein 1 protein-coding gene gene with protein product Approved 15q14 15q14 "CalDAG-GEFII|RASGRP" calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II RAS guanyl releasing protein 1 (calcium and DAG-regulated) EF-hand domain containing 863 1999-06-02 2016-01-18 2023-01-20 10125 ENSG00000172575 OTTHUMG00000172379 uc001zke.5 AF106071 NM_005739 "CCDS45222|CCDS76733|CCDS45221" O95267 "10087292|9789079" MGI:1314635 RGD:3539 603962 objectId:3016 HGNC:9878 "ENST00000310803.10|NM_005739.4" HGNC:9878 HGNC:9879 RASGRP2 RAS guanyl releasing protein 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 CALDAG-GEFI calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I RAS guanyl releasing protein 2 (calcium and DAG-regulated) EF-hand domain containing 863 1999-07-21 2016-01-18 2023-01-20 10235 ENSG00000068831 OTTHUMG00000045420 uc009ypw.3 U78170 NM_153819 CCDS31598 Q7LDG7 9789079 MGI:1333849 RGD:1311630 "RASGRP2base: Mutation registry for Leukocyte adhesion deficiency III|http://structure.bmc.lu.se/idbase/RASGRP2base/|LRG_100|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_100.xml" 605577 431588 HGNC:9879 "ENST00000394432.8|NM_001098671.2" HGNC:9879 -HGNC:14545 RASGRP3 RAS guanyl releasing protein 3 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "KIAA0846|GRP3|CalDAG-GEFIII" calcium- and diacylglycerol-regulated guanine nucleotide exchange factor III RAS guanyl releasing protein 3 (calcium and DAG-regulated) EF-hand domain containing 863 2003-06-05 2016-01-18 2023-01-20 25780 ENSG00000152689 OTTHUMG00000152124 uc002rox.4 AB020653 NM_015376 "CCDS46256|CCDS54346" Q8IV61 "10048485|10934204" MGI:3028579 RGD:1304612 609531 HGNC:14545 "ENST00000403687.8|NM_001139488.2" +HGNC:14545 RASGRP3 RAS guanyl releasing protein 3 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "KIAA0846|GRP3|CalDAG-GEFIII" calcium- and diacylglycerol-regulated guanine nucleotide exchange factor III RAS guanyl releasing protein 3 (calcium and DAG-regulated) EF-hand domain containing 863 2003-06-05 2016-01-18 2023-01-20 25780 ENSG00000152689 OTTHUMG00000152124 uc002rox.4 AB020653 NM_015376 "CCDS54346|CCDS46256" Q8IV61 "10048485|10934204" MGI:3028579 RGD:1304612 609531 HGNC:14545 "ENST00000403687.8|NM_001139488.2" HGNC:40689 RASGRP3-AS1 RASGRP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 Antisense RNAs 1987 2020-03-19 2020-03-19 105374454 ENSG00000237133 OTTHUMG00000152537 NR_146505 -HGNC:18958 RASGRP4 RAS guanyl releasing protein 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 EF-hand domain containing 863 2002-07-17 2023-01-20 115727 ENSG00000171777 OTTHUMG00000182327 uc010ega.4 AY048119 NM_170604 "CCDS59383|CCDS46068|CCDS54264|CCDS54262|CCDS59382|CCDS54263|CCDS59384" Q8TDF6 11956218 MGI:2386851 RGD:620476 607320 HGNC:18958 "ENST00000615439.5|NM_170604.3" +HGNC:18958 RASGRP4 RAS guanyl releasing protein 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 EF-hand domain containing 863 2002-07-17 2023-01-20 115727 ENSG00000171777 OTTHUMG00000182327 uc010ega.4 AY048119 NM_170604 "CCDS59382|CCDS46068|CCDS54264|CCDS59384|CCDS54263|CCDS59383|CCDS54262" Q8TDF6 11956218 MGI:2386851 RGD:620476 607320 HGNC:18958 "ENST00000615439.5|NM_170604.3" HGNC:24716 RASIP1 Ras interacting protein 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ20401|RAIN" 2004-04-05 2023-01-20 54922 ENSG00000105538 OTTHUMG00000183323 uc002pki.4 BC028614 NM_017805 CCDS12731 Q5U651 15031288 MGI:1917153 RGD:1305291 609623 HGNC:24716 "ENST00000222145.9|NM_017805.3" HGNC:16954 RASL10A RAS like family 10 member A protein-coding gene gene with protein product Approved 22q12.2 22q12.2 RRP22 "RAS-like, family 10, member A|RAS-like family 10 member A" RAS type GTPase family 389 2007-01-15 2016-02-01 2023-03-15 10633 ENSG00000100276 OTTHUMG00000151106 uc003aff.4 Y07847 NM_006477 CCDS13854 Q92737 "8975699|15731001" MGI:1922918 RGD:1306100 602220 HGNC:16954 "ENST00000216101.7|NM_006477.5" HGNC:30295 RASL10B RAS like family 10 member B protein-coding gene gene with protein product Approved 17q12 17q12 "VTS58635|RRP17" "RAS-like, family 10, member B|RAS-like family 10 member B" RAS type GTPase family 389 2004-02-05 2016-02-01 2023-01-20 91608 ENSG00000270885 OTTHUMG00000188385 uc002hju.4 BC041133 NM_033315 CCDS11297 Q96S79 17028781 MGI:2685575 RGD:1310873 612128 HGNC:30295 "ENST00000603017.2|NM_033315.4" HGNC:23802 RASL11A RAS like family 11 member A protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "RAS-like, family 11, member A|RAS-like family 11 member A" RAS type GTPase family 389 2003-12-11 2016-02-01 2023-01-20 387496 ENSG00000122035 OTTHUMG00000016627 uc001urd.1 AY439004 NM_206827 CCDS9321 Q6T310 15033445 MGI:1916145 RGD:1303231 612403 HGNC:23802 "ENST00000241463.5|NM_206827.2" HGNC:23804 RASL11B RAS like family 11 member B protein-coding gene gene with protein product Approved 4q12 04q12 "RAS-like, family 11, member B|RAS-like family 11 member B" RAS type GTPase family 389 2003-12-11 2016-02-01 2023-01-20 65997 ENSG00000128045 OTTHUMG00000102097 uc003gzt.4 BK001672 NM_023940 CCDS3490 Q9BPW5 MGI:1916189 RGD:1303099 612404 HGNC:23804 "ENST00000248706.5|NM_023940.3" HGNC:30289 RASL12 RAS like family 12 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 RIS Ras family member Ris "RAS-like, family 12|RAS-like family 12" RAS type GTPase family 389 2004-02-03 2016-02-01 2023-01-20 51285 ENSG00000103710 OTTHUMG00000133115 uc002aoi.2 AF233588 NM_016563 "CCDS92017|CCDS10200|CCDS76769" Q9NYN1 12107412 MGI:1918034 RGD:1306268 HGNC:30289 "ENST00000220062.9|NM_016563.4" -HGNC:9882 RASSF1 Ras association domain family member 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "NORE2A|REH3P21|RDA32|123F2" Ras association (RalGDS/AF-6) domain family member 1 Ras association domain family 1198 2000-05-30 2016-01-29 2023-03-15 11186 ENSG00000068028 OTTHUMG00000149958 uc003dad.2 AF132675 NM_001206957 "CCDS2820|CCDS43096|CCDS2822|CCDS2821" Q9NS23 MGI:1928386 RGD:1359383 605082 HGNC:9882 "ENST00000359365.9|NM_007182.5" +HGNC:9882 RASSF1 Ras association domain family member 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "NORE2A|REH3P21|RDA32|123F2" Ras association (RalGDS/AF-6) domain family member 1 Ras association domain family 1198 2000-05-30 2016-01-29 2023-03-15 11186 ENSG00000068028 OTTHUMG00000149958 uc003dad.2 AF132675 NM_001206957 "CCDS2821|CCDS43096|CCDS2820|CCDS2822" Q9NS23 MGI:1928386 RGD:1359383 605082 HGNC:9882 "ENST00000359365.9|NM_007182.5" HGNC:49091 RASSF1-AS1 RASSF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.3 03p21.3 ANRASSF1 Antisense RNAs 1987 2013-09-01 2018-09-07 102060282 ENSG00000281358 OTTHUMG00000189572 KC330992 NR_109831 23990798 RASSF1-AS1 HGNC:49091 HGNC:9883 RASSF2 Ras association domain family member 2 protein-coding gene gene with protein product Approved 20p13 20p13 "KIAA0168|CENP-34" centromere protein 34 Ras association (RalGDS/AF-6) domain family member 2 Ras association domain family 1198 2000-08-22 2016-01-29 2023-03-15 9770 ENSG00000101265 OTTHUMG00000031790 uc002wlf.3 D79990 NM_014737 CCDS13083 P50749 "8724849|15806169" MGI:2442060 RGD:1305551 609492 HGNC:9883 "ENST00000379400.8|NM_014737.3" HGNC:14271 RASSF3 Ras association domain family member 3 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 Ras association (RalGDS/AF-6) domain family member 3 "Ras association domain family|MicroRNA protein coding host genes" "1198|1691" 2000-12-21 2016-01-29 2023-01-20 283349 ENSG00000153179 OTTHUMG00000168812 uc001ssd.3 NM_178169 CCDS8969 Q86WH2 MGI:2179722 RGD:1311450 607019 HGNC:14271 "ENST00000542104.6|NM_178169.4" HGNC:55489 RASSF3-DT RASSF3 divergent transcript non-coding RNA RNA, long non-coding Approved 12q14.2 12q14.2 Divergent transcripts 1990 2021-03-12 2021-03-12 105369804 ENSG00000256670 XR_945027 HGNC:20793 RASSF4 Ras association domain family member 4 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "AD037|MGC44914" Ras association (RalGDS/AF-6) domain family member 4 Ras association domain family 1198 2003-04-24 2016-01-29 2023-03-15 83937 ENSG00000107551 OTTHUMG00000018060 uc001jbo.4 BC032593 NM_032023 CCDS7208 Q9H2L5 MGI:2386853 RGD:1307785 610559 HGNC:20793 "ENST00000340258.10|NM_032023.4" -HGNC:17609 RASSF5 Ras association domain family member 5 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Maxp1|NORE1|RAPL" "novel Ras effector 1|regulator for cell adhesion and polarization enriched in lymphoid tissues" Ras association (RalGDS/AF-6) domain family member 5 Ras association domain family 1198 2003-04-02 2016-01-29 2023-01-20 83593 ENSG00000266094 OTTHUMG00000184616 uc031vlp.2 BC004270 NM_031437 "CCDS1464|CCDS1463|CCDS30998" Q8WWW0 "11978988|11965544|23972470" MGI:1926375 RGD:621694 607020 HGNC:17609 "ENST00000579436.7|NM_182663.4" -HGNC:20796 RASSF6 Ras association domain family member 6 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 Ras association (RalGDS/AF-6) domain family member 6 Ras association domain family 1198 2003-04-24 2016-01-29 2023-01-20 166824 ENSG00000169435 OTTHUMG00000130007 uc003hhd.3 AY217664 NM_177532 "CCDS3559|CCDS58904|CCDS58905|CCDS3558" Q6ZTQ3 MGI:1920496 RGD:1566082 612620 HGNC:20796 "ENST00000307439.10|NM_177532.5" -HGNC:1166 RASSF7 Ras association domain family member 7 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "HRC1|HRAS1|FAP88|CFAP88" C11orf13 "chromosome 11 open reading frame 13|Ras association (RalGDS/AF-6) domain family (N-terminal) member 7" "Ras association domain family|Cilia and flagella associated" "1198|1491" 1998-12-18 2005-09-14 2016-01-29 2023-01-20 8045 ENSG00000099849 OTTHUMG00000132004 uc001lqc.4 M91083 NM_003475 "CCDS44506|CCDS7702|CCDS44505" Q02833 1339391 MGI:1914235 RGD:1306244 143023 HGNC:1166 "ENST00000397583.8|NM_003475.4" +HGNC:17609 RASSF5 Ras association domain family member 5 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Maxp1|NORE1|RAPL" "novel Ras effector 1|regulator for cell adhesion and polarization enriched in lymphoid tissues" Ras association (RalGDS/AF-6) domain family member 5 Ras association domain family 1198 2003-04-02 2016-01-29 2023-01-20 83593 ENSG00000266094 OTTHUMG00000184616 uc031vlp.2 BC004270 NM_031437 "CCDS30998|CCDS1463|CCDS1464" Q8WWW0 "11978988|11965544|23972470" MGI:1926375 RGD:621694 607020 HGNC:17609 "ENST00000579436.7|NM_182663.4" +HGNC:20796 RASSF6 Ras association domain family member 6 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 Ras association (RalGDS/AF-6) domain family member 6 Ras association domain family 1198 2003-04-24 2016-01-29 2023-01-20 166824 ENSG00000169435 OTTHUMG00000130007 uc003hhd.3 AY217664 NM_177532 "CCDS58904|CCDS58905|CCDS3559|CCDS3558" Q6ZTQ3 MGI:1920496 RGD:1566082 612620 HGNC:20796 "ENST00000307439.10|NM_177532.5" +HGNC:1166 RASSF7 Ras association domain family member 7 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "HRC1|HRAS1|FAP88|CFAP88" C11orf13 "chromosome 11 open reading frame 13|Ras association (RalGDS/AF-6) domain family (N-terminal) member 7" "Ras association domain family|Cilia and flagella associated" "1198|1491" 1998-12-18 2005-09-14 2016-01-29 2023-01-20 8045 ENSG00000099849 OTTHUMG00000132004 uc001lqc.4 M91083 NM_003475 "CCDS44505|CCDS44506|CCDS7702" Q02833 1339391 MGI:1914235 RGD:1306244 143023 HGNC:1166 "ENST00000397583.8|NM_003475.4" HGNC:13232 RASSF8 Ras association domain family member 8 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 HoJ-1 C12orf2 "chromosome 12 open reading frame 2|Ras association (RalGDS/AF-6) domain family (N-terminal) member 8" Ras association domain family 1198 2001-04-05 2005-09-14 2016-01-29 2023-01-20 11228 ENSG00000123094 OTTHUMG00000169087 uc001rgx.4 U82396 NM_007211 "CCDS8705|CCDS53765" Q8NHQ8 MGI:1918573 RGD:1308820 608231 470956 HGNC:13232 "ENST00000689635.1|NM_001394098.1" HGNC:48637 RASSF8-AS1 RASSF8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Antisense RNAs 1987 2013-05-30 2017-01-11 2017-01-11 100506451 ENSG00000246695 OTTHUMG00000169126 NR_038227 RASSF8-AS1 HGNC:48637 HGNC:15739 RASSF9 Ras association domain family member 9 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 P-CIP1 PAMCI "peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor|Ras association (RalGDS/AF-6) domain family (N-terminal) member 9" Ras association domain family 1198 2001-05-23 2008-02-22 2016-01-29 2023-01-20 9182 ENSG00000198774 OTTHUMG00000169831 uc001taf.2 NM_005447 CCDS44950 O75901 "9837933|18272789" MGI:2384307 RGD:621329 610383 HGNC:15739 "ENST00000361228.5|NM_005447.4" HGNC:33984 RASSF10 Ras association domain family member 10 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor-like Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 Ras association domain family 1198 2008-02-22 2016-01-29 2023-01-20 644943 ENSG00000189431 OTTHUMG00000166184 uc021qdz.2 NM_001080521 CCDS44542 A6NK89 18272789 MGI:1925998 RGD:1309847 614713 HGNC:33984 "ENST00000529419.3|NM_001080521.3" HGNC:54255 RASSF10-DT RASSF10 divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.3 11p15.3 LINC02738 long intergenic non-protein coding RNA 2738 Divergent transcripts 1990 2019-04-24 2019-05-16 2019-05-16 2019-05-16 105376557 ENSG00000254670 XR_001748137 HGNC:54255 HGNC:30296 RAVER1 ribonucleoprotein, PTB binding 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 KIAA1978 ribonucleoprotein, PTB-binding 1 RNA binding motif containing 725 2006-03-22 2016-04-06 2023-01-20 125950 ENSG00000161847 OTTHUMG00000180409 uc002moa.4 NM_133452 CCDS45960 Q8IY67 "11853319|11724819" MGI:1919016 RGD:1359190 609950 470958 HGNC:30296 "ENST00000617231.5|NM_133452.3" -HGNC:25577 RAVER2 ribonucleoprotein, PTB binding 2 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA1579|FLJ10770" ribonucleoprotein, PTB-binding 2 RNA binding motif containing 725 2006-03-22 2016-04-06 2023-01-20 55225 ENSG00000162437 OTTHUMG00000009102 uc001dbs.3 AB046799 NM_018211 "CCDS90967|CCDS41345" Q9HCJ3 16051233 MGI:2443623 RGD:1307610 609953 HGNC:25577 "ENST00000294428.8|NM_001366165.2" +HGNC:25577 RAVER2 ribonucleoprotein, PTB binding 2 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA1579|FLJ10770" ribonucleoprotein, PTB-binding 2 RNA binding motif containing 725 2006-03-22 2016-04-06 2023-01-20 55225 ENSG00000162437 OTTHUMG00000009102 uc001dbs.3 AB046799 NM_018211 "CCDS41345|CCDS90967" Q9HCJ3 16051233 MGI:2443623 RGD:1307610 609953 HGNC:25577 "ENST00000294428.8|NM_001366165.2" HGNC:18662 RAX retina and anterior neural fold homeobox protein-coding gene gene with protein product Approved 18q21.32 18q21.32 "RX|RAX1" retinal homeobox protein Rx PRD class homeoboxes and pseudogenes 521 2002-05-22 2023-01-20 30062 ENSG00000134438 OTTHUMG00000132757 uc002lhx.3 AF115392 NM_013435 CCDS11972 Q9Y2V3 "10625658|10766016|14662654" MGI:109632 RGD:620371 601881 8631 160006 HGNC:18662 "ENST00000334889.4|NM_013435.3" HGNC:18662 HGNC:18286 RAX2 retina and anterior neural fold homeobox 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC15631|ARMD6|CORD11" RAXL1 retina and anterior neural fold homeobox like 1 PRD class homeoboxes and pseudogenes 521 2006-02-09 2007-08-28 2007-08-28 2023-01-20 84839 ENSG00000173976 OTTHUMG00000171148 uc002lyr.4 AY211277 NM_032753 CCDS12112 Q96IS3 LRG_1200|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1200.xml 610362 8557 138702 HGNC:18286 "ENST00000555633.3|NM_001319074.4" HGNC:18286 HGNC:9884 RB1 RB transcriptional corepressor 1 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "RB|PPP1R130" "prepro-retinoblastoma-associated protein|protein phosphatase 1, regulatory subunit 130" OSRC "osteosarcoma|retinoblastoma 1" Receptor ligands 542 1986-01-01 2016-05-24 2023-01-20 5925 ENSG00000139687 OTTHUMG00000016900 uc001vcb.4 M15400 NM_000321 CCDS31973 P06400 "1857421|15057823" MGI:97874 RGD:3540 "RB1-LSDB|http://rb1-lovd.d-lohmann.de/home.php?select_db=RB1|LRG_517|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_517.xml" RB1 614041 118239 ligandId:5253 HGNC:9884 "ENST00000267163.6|NM_000321.3" HGNC:9884 HGNC:42778 RB1-DT RB1 divergent transcript non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 ncRNA-RB1 LINC00441 long intergenic non-protein coding RNA 441 Divergent transcripts 1990 2011-08-18 2018-03-23 2018-03-23 2018-03-23 100862704 ENSG00000231473 OTTHUMG00000016896 uc001vca.3 NR_046414 25579178 LINC00441 HGNC:42778 -HGNC:15574 RB1CC1 RB1 inducible coiled-coil 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "KIAA0203|Cc1|DRAGOU14|FIP200|ATG17|PPP1R131" "200 kDa FAK family kinase-interacting protein|phosphatase 1, regulatory subunit 131" "Protein phosphatase 1 regulatory subunits|Autophagy related" "694|1022" 2001-06-01 2015-11-20 2023-01-20 9821 ENSG00000023287 OTTHUMG00000164268 uc003xre.5 AB059622 NM_014781 "CCDS34892|CCDS47856" Q8TDY2 "11850849|7724523|18443221" MGI:1341850 RGD:1309346 606837 HGNC:15574 "ENST00000025008.10|NM_014781.5" +HGNC:15574 RB1CC1 RB1 inducible coiled-coil 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "KIAA0203|Cc1|DRAGOU14|FIP200|ATG17|PPP1R131" "200 kDa FAK family kinase-interacting protein|phosphatase 1, regulatory subunit 131" "Protein phosphatase 1 regulatory subunits|Autophagy related" "694|1022" 2001-06-01 2015-11-20 2023-01-20 9821 ENSG00000023287 OTTHUMG00000164268 uc003xre.5 AB059622 NM_014781 "CCDS47856|CCDS34892" Q8TDY2 "11850849|7724523|18443221" MGI:1341850 RGD:1309346 606837 HGNC:15574 "ENST00000025008.10|NM_014781.5" HGNC:17680 RBAK RB associated KRAB zinc finger protein-coding gene gene with protein product Approved 7p22.1 07p22.1 ZNF769 Zinc fingers C2H2-type 28 2006-08-14 2016-02-12 2023-01-20 57786 ENSG00000146587 OTTHUMG00000121155 uc003sns.1 AF226869 NM_021163 CCDS5337 Q9NYW8 MGI:1927369 RGD:1562875 608191 HGNC:17680 "ENST00000396912.2|NM_021163.4" HGNC:42971 RBAK-RBAKDN RBAK-RBAKDN readthrough other readthrough Approved 7p22.1 07p22.1 2013-05-20 2023-03-15 100533952 ENSG00000272968 OTTHUMG00000186010 NM_001204513 HGNC:42971 HGNC:33770 RBAKDN RBAK downstream neighbor non-coding RNA RNA, long non-coding Approved 7p22.1 07p22.1 RBAK downstream neighbor (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-20 2018-05-16 2023-03-15 389458 ENSG00000273313 OTTHUMG00000186012 BC031661 NR_015343 A6NC62 RBAKDN HGNC:33770 -HGNC:9887 RBBP4 RB binding protein 4, chromatin remodeling factor protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "RbAp48|NURF55|lin-53" "retinoblastoma-binding protein 4|retinoblastoma binding protein 4" "WD repeat domain containing|EMSY complex|NuRD complex subunits|SIN3 histone deacetylase complex subunits|Polycomb repressive complex 2|NURF complex" "362|1243|1305|1306|1347|1363" 1995-05-05 2016-05-25 2023-01-20 5928 ENSG00000162521 OTTHUMG00000007998 uc001bvr.3 BC053904 NM_005610 "CCDS366|CCDS44106|CCDS44105" Q09028 "8350924|14609955|17531812" MGI:1194912 RGD:1593768 602923 HGNC:9887 "ENST00000373493.10|NM_005610.3" +HGNC:9887 RBBP4 RB binding protein 4, chromatin remodeling factor protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "RbAp48|NURF55|lin-53" "retinoblastoma-binding protein 4|retinoblastoma binding protein 4" "WD repeat domain containing|EMSY complex|NuRD complex subunits|SIN3 histone deacetylase complex subunits|Polycomb repressive complex 2|NURF complex" "362|1243|1305|1306|1347|1363" 1995-05-05 2016-05-25 2023-01-20 5928 ENSG00000162521 OTTHUMG00000007998 uc001bvr.3 BC053904 NM_005610 "CCDS44105|CCDS366|CCDS44106" Q09028 "8350924|14609955|17531812" MGI:1194912 RGD:1593768 602923 HGNC:9887 "ENST00000373493.10|NM_005610.3" HGNC:42368 RBBP4P1 RBBP4 pseudogene 1 pseudogene pseudogene Approved 5p15.2 05p15.2 "retinoblastoma binding protein 4 pseudogene 1|RB binding protein 4 pseudogene 1" 2011-07-05 2018-10-08 2018-10-08 642954 ENSG00000249485 OTTHUMG00000161817 NG_023410 PGOHUM00000235127 HGNC:42368 HGNC:42369 RBBP4P2 RBBP4 pseudogene 2 pseudogene pseudogene Approved 3q11.2 03q11.2 "retinoblastoma binding protein 4 pseudogene 2|RB binding protein 4 pseudogene 2" 2011-07-05 2018-10-08 2018-10-08 100420527 ENSG00000242457 OTTHUMG00000159011 NG_025601 PGOHUM00000237685 HGNC:42369 HGNC:42370 RBBP4P3 RBBP4 pseudogene 3 pseudogene pseudogene Approved 6q11.1 06q11.1 "retinoblastoma binding protein 4 pseudogene 3|RB binding protein 4 pseudogene 3" 2011-07-05 2018-10-08 2018-10-08 730180 ENSG00000276290 OTTHUMG00000188337 NG_022302 PGOHUM00000301404 HGNC:42370 @@ -27784,21 +27787,21 @@ HGNC:42372 RBBP4P5 RBBP4 pseudogene 5 pseudogene pseudogene Approved 14q11.2 14q HGNC:42373 RBBP4P6 RBBP4 pseudogene 6 pseudogene pseudogene Approved 5q14.3 05q14.3 "retinoblastoma binding protein 4 pseudogene 6|RB binding protein 4 pseudogene 6" 2011-07-05 2018-10-08 2018-10-08 100820741 ENSG00000248674 OTTHUMG00000162572 NG_030512 PGOHUM00000235304 HGNC:42373 HGNC:56458 RBBP4P7 RBBP4 pseudogene 7 pseudogene pseudogene Approved 3q11.2 03q11.2 2022-10-19 2022-10-19 391556 ENSG00000241815 NG_023232 PGOHUM00000299500 HGNC:9888 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RBQ3|SWD1" SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae) "retinoblastoma-binding protein 5|retinoblastoma binding protein 5" "WD repeat domain containing|WRAD complex" "362|1558" 1995-05-30 2016-05-25 2023-01-20 5929 ENSG00000117222 OTTHUMG00000037104 uc001hbu.3 BC053856 NM_005057 "CCDS30983|CCDS53463" Q15291 7558034 MGI:1918367 RGD:1305532 600697 HGNC:9888 "ENST00000264515.11|NM_005057.4" -HGNC:9889 RBBP6 RB binding protein 6, ubiquitin ligase protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "P2P-R|PACT|SNAMA" proliferation potential-related protein "retinoblastoma-binding protein 6|retinoblastoma binding protein 6" Ring finger proteins 58 1995-08-17 2016-05-25 2023-01-20 5930 ENSG00000122257 OTTHUMG00000096991 uc002dmh.4 NM_006910 "CCDS45444|CCDS10622|CCDS10621" Q7Z6E9 "8595913|16396680|18851979" MGI:894835 RGD:1311964 600938 6.3.2.- HGNC:9889 "ENST00000319715.10|NM_006910.5" +HGNC:9889 RBBP6 RB binding protein 6, ubiquitin ligase protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "P2P-R|PACT|SNAMA" proliferation potential-related protein "retinoblastoma-binding protein 6|retinoblastoma binding protein 6" Ring finger proteins 58 1995-08-17 2016-05-25 2023-01-20 5930 ENSG00000122257 OTTHUMG00000096991 uc002dmh.4 NM_006910 "CCDS10622|CCDS45444|CCDS10621" Q7Z6E9 "8595913|16396680|18851979" MGI:894835 RGD:1311964 600938 6.3.2.- HGNC:9889 "ENST00000319715.10|NM_006910.5" HGNC:45108 RBBP6P1 RBBP6 pseudogene 1 pseudogene pseudogene Approved 10q22.3 10q22.3 "retinoblastoma binding protein 6 pseudogene 1|RB binding protein 6 pseudogene 1" 2013-02-15 2018-10-08 2018-10-08 100129156 NG_022184 PGOHUM00000238849 HGNC:45108 HGNC:9890 RBBP7 RB binding protein 7, chromatin remodeling factor protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 RbAp46 "G1/S transition control protein-binding protein RbAp46|retinoblastoma-binding protein 7|retinoblastoma-binding protein RbAp46|histone acetyltransferase type B subunit 2|retinoblastoma-binding protein p46" "retinoblastoma-binding protein 7|retinoblastoma binding protein 7|RB binding protein 7" "WD repeat domain containing|EMSY complex|NuRD complex subunits|SIN3 histone deacetylase complex subunits|Polycomb repressive complex 2|NURF complex" "362|1243|1305|1306|1347|1363" 1998-01-23 2016-05-25 2023-01-20 5931 ENSG00000102054 OTTHUMG00000021198 uc004cxt.4 U35143 NM_002893 "CCDS56598|CCDS14179" Q16576 7503932 MGI:1194910 RGD:620125 300825 HGNC:9890 "ENST00000380087.7|NM_002893.4" -HGNC:9891 RBBP8 RB binding protein 8, endonuclease protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "CtIP|RIM|COM1" CTBP-interacting protein SCKL2 "retinoblastoma-binding protein 8|Seckel syndrome 2|retinoblastoma binding protein 8" "BRCA1 C complex|MicroRNA protein coding host genes" "1336|1691" 1998-02-12 2016-05-25 2023-01-20 5932 ENSG00000101773 OTTHUMG00000131769 uc002ktw.4 AF043431 NM_203291 "CCDS11874|CCDS11875" Q99708 "9721205|17965729|21998596" MGI:2442995 RGD:1308872 604124 292698 3.1.-.- HGNC:9891 "ENST00000327155.10|NM_002894.3" HGNC:9891 +HGNC:9891 RBBP8 RB binding protein 8, endonuclease protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "CtIP|RIM|COM1" CTBP-interacting protein SCKL2 "retinoblastoma-binding protein 8|Seckel syndrome 2|retinoblastoma binding protein 8" "BRCA1 C complex|MicroRNA protein coding host genes" "1336|1691" 1998-02-12 2016-05-25 2023-01-20 5932 ENSG00000101773 OTTHUMG00000131769 uc002ktw.4 AF043431 NM_203291 "CCDS11875|CCDS11874" Q99708 "9721205|17965729|21998596" MGI:2442995 RGD:1308872 604124 292698 3.1.-.- HGNC:9891 "ENST00000327155.10|NM_002894.3" HGNC:9891 HGNC:16144 RBBP8NL RBBP8 N-terminal like protein-coding gene gene with protein product Approved 20q13.33 20q13.33 dJ908M14.3 hypothetical protein LOC140893 C20orf151 chromosome 20 open reading frame 151 2001-07-17 2012-10-30 2012-10-30 2023-01-20 140893 ENSG00000130701 OTTHUMG00000032913 uc002ycw.3 AL121832 NM_080833 CCDS13498 Q8NC74 11780052 MGI:3606212 RGD:1596090 HGNC:16144 "ENST00000252998.2|NM_080833.3" HGNC:39583 RBBP8P1 RBBP8 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 "retinoblastoma binding protein 8 pseudogene 1|RB binding protein 8 pseudogene 1" 2011-03-15 2018-10-08 2018-10-08 100420552 ENSG00000230399 OTTHUMG00000022255 NG_026754 PGOHUM00000263337 HGNC:39583 HGNC:39584 RBBP8P2 RBBP8 pseudogene 2 pseudogene pseudogene Approved 13q12.13 13q12.13 "retinoblastoma binding protein 8 pseudogene 2|RB binding protein 8 pseudogene 2" 2011-03-15 2018-10-08 2018-10-08 100420607 NG_024906 PGOHUM00000248550 HGNC:39584 HGNC:9892 RBBP9 RB binding protein 9, serine hydrolase protein-coding gene gene with protein product Approved 20p11.23 20p11.23 Bog "retinoblastoma-binding protein 9|retinoblastoma binding protein 9" 1998-09-22 2016-05-25 2023-01-20 10741 ENSG00000089050 OTTHUMG00000031972 uc002wqy.5 AF039564 NM_006606 CCDS13136 O75884 "9697699|10449909|20080647" MGI:1347074 RGD:3542 602908 objectId:2874 HGNC:9892 "ENST00000337227.9|NM_006606.3" -HGNC:15864 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 protein-coding gene gene with protein product Approved 20p13 20p13 "RBCK2|XAP4|RNF54|ZRANB4|UBCE7IP3|HOIL1" heme-oxidized IRP2 ubiquitin ligase 1 C20orf18 "chromosome 20 open reading frame 18|RanBP-type and C3HC4-type zinc finger containing 1" "Ring finger proteins|Zinc fingers RANBP2-type |Linear ubiquitin chain assembly complex |RBR E3 ubiquitin ligases" "58|89|1390|1391" 2001-06-21 2006-06-28 2016-02-12 2023-03-15 10616 ENSG00000125826 OTTHUMG00000031634 uc002wdp.5 U67322 NM_031229 "CCDS82587|CCDS92997|CCDS12998|CCDS13000" Q9BYM8 MGI:1344372 RGD:708404 LRG_728|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_728.xml 610924 331658 HGNC:15864 "ENST00000356286.10|NM_031229.4" HGNC:15864 +HGNC:15864 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 protein-coding gene gene with protein product Approved 20p13 20p13 "RBCK2|XAP4|RNF54|ZRANB4|UBCE7IP3|HOIL1" heme-oxidized IRP2 ubiquitin ligase 1 C20orf18 "chromosome 20 open reading frame 18|RanBP-type and C3HC4-type zinc finger containing 1" "Ring finger proteins|Zinc fingers RANBP2-type |Linear ubiquitin chain assembly complex |RBR E3 ubiquitin ligases" "58|89|1390|1391" 2001-06-21 2006-06-28 2016-02-12 2023-03-15 10616 ENSG00000125826 OTTHUMG00000031634 uc002wdp.5 U67322 NM_031229 "CCDS13000|CCDS12998|CCDS92997|CCDS82587" Q9BYM8 MGI:1344372 RGD:708404 LRG_728|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_728.xml 610924 331658 HGNC:15864 "ENST00000356286.10|NM_031229.4" HGNC:15864 HGNC:26120 RBFA ribosome binding factor A protein-coding gene gene with protein product Approved 18q23 18q23 "FLJ21172|HsT169" C18orf22 "chromosome 18 open reading frame 22|ribosome binding factor A (putative)" 2004-05-05 2010-10-21 2017-09-14 2023-01-20 79863 ENSG00000101546 OTTHUMG00000132923 uc002lns.4 BC014195 NM_024805 "CCDS12021|CCDS54194" Q8N0V3 28512204 MGI:1915981 RGD:1311910 HGNC:26120 "ENST00000306735.10|NM_024805.3" HGNC:48591 RBFADN RBFA downstream neighbor non-coding RNA RNA, long non-coding Approved 18q23 18q23 RBFA downstream neighbor (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-21 2018-05-16 2018-05-16 100506070 ENSG00000261126 NR_103445 RBFADN HGNC:48591 -HGNC:18222 RBFOX1 RNA binding fox-1 homolog 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "A2BP1|FOX-1|HRNBP1" "ataxin 2-binding protein 1|hexaribonucleotide binding protein 1" "RNA binding protein, fox-1 homolog (C. elegans) 1|RNA binding protein, fox-1 homolog 1" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2010-09-10 2017-09-13 2023-01-20 54715 ENSG00000078328 OTTHUMG00000129551 uc002cyy.3 AF107203 NM_145891 "CCDS10531|CCDS55984|CCDS45405|CCDS76818|CCDS92100|CCDS55983|CCDS92101|CCDS10532" Q9NWB1 "10814712|16260614" MGI:1926224 RGD:1311210 605104 470960 HGNC:18222 "ENST00000550418.6|NM_018723.4" HGNC:18222 -HGNC:9906 RBFOX2 RNA binding fox-1 homolog 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "HNRBP2|FOX-2|HRNBP2" hexaribonucleotide binding protein 2 RBM9 "RNA binding motif protein 9|RNA binding protein, fox-1 homolog (C. elegans) 2|RNA binding protein, fox-1 homolog 2" RNA binding motif containing 725 1999-10-12 2010-09-10 2017-09-13 2023-01-20 23543 ENSG00000100320 OTTHUMG00000150585 uc003aok.5 AL009266 NM_001031695 "CCDS46701|CCDS46700|CCDS46699|CCDS13921|CCDS93157|CCDS43013" O43251 MGI:1933973 RGD:1311838 612149 470962 HGNC:9906 "ENST00000695854.1|NM_001349999.2" -HGNC:27097 RBFOX3 RNA binding fox-1 homolog 3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FOX-3|NeuN|HRNBP3" "neuronal nuclei|hexaribonucleotide binding protein 3" "RNA binding protein, fox-1 homolog (C. elegans) 3|RNA binding protein, fox-1 homolog 3" RNA binding motif containing 725 2010-09-10 2017-09-13 2023-03-15 146713 ENSG00000167281 OTTHUMG00000150183 uc010dhs.5 NM_001082575 "CCDS45805|CCDS92410|CCDS92409|CCDS92408" A6NFN3 16260614 MGI:106368 RGD:1560070 616999 HGNC:27097 "ENST00000693108.1|NM_001350451.2" HGNC:27097 -HGNC:32235 RBIS ribosomal biogenesis factor protein-coding gene gene with protein product Approved 8q21.2 08q21.2 ribosome biogenesis factor identified in screen C8orf59 chromosome 8 open reading frame 59 Ribosomal biogenesis factors 1729 2005-09-05 2019-02-18 2019-02-18 2023-01-20 401466 ENSG00000176731 OTTHUMG00000164787 uc033brx.2 BC032347 NM_001099670 "CCDS78351|CCDS55255" Q8N0T1 "26711351|23973377" MGI:1916376 RGD:1565641 HGNC:32235 "ENST00000619594.5|NM_001099673.3" +HGNC:18222 RBFOX1 RNA binding fox-1 homolog 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "A2BP1|FOX-1|HRNBP1" "ataxin 2-binding protein 1|hexaribonucleotide binding protein 1" "RNA binding protein, fox-1 homolog (C. elegans) 1|RNA binding protein, fox-1 homolog 1" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2010-09-10 2017-09-13 2023-01-20 54715 ENSG00000078328 OTTHUMG00000129551 uc002cyy.3 AF107203 NM_145891 "CCDS45405|CCDS55984|CCDS10531|CCDS10532|CCDS92101|CCDS55983|CCDS92100|CCDS76818" Q9NWB1 "10814712|16260614" MGI:1926224 RGD:1311210 605104 470960 HGNC:18222 "ENST00000550418.6|NM_018723.4" HGNC:18222 +HGNC:9906 RBFOX2 RNA binding fox-1 homolog 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "HNRBP2|FOX-2|HRNBP2" hexaribonucleotide binding protein 2 RBM9 "RNA binding motif protein 9|RNA binding protein, fox-1 homolog (C. elegans) 2|RNA binding protein, fox-1 homolog 2" RNA binding motif containing 725 1999-10-12 2010-09-10 2017-09-13 2023-01-20 23543 ENSG00000100320 OTTHUMG00000150585 uc003aok.5 AL009266 NM_001031695 "CCDS46701|CCDS13921|CCDS93157|CCDS46700|CCDS46699|CCDS43013" O43251 MGI:1933973 RGD:1311838 612149 470962 HGNC:9906 "ENST00000695854.1|NM_001349999.2" +HGNC:27097 RBFOX3 RNA binding fox-1 homolog 3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FOX-3|NeuN|HRNBP3" "neuronal nuclei|hexaribonucleotide binding protein 3" "RNA binding protein, fox-1 homolog (C. elegans) 3|RNA binding protein, fox-1 homolog 3" RNA binding motif containing 725 2010-09-10 2017-09-13 2023-03-15 146713 ENSG00000167281 OTTHUMG00000150183 uc010dhs.5 NM_001082575 "CCDS45805|CCDS92410|CCDS92408|CCDS92409" A6NFN3 16260614 MGI:106368 RGD:1560070 616999 HGNC:27097 "ENST00000693108.1|NM_001350451.2" HGNC:27097 +HGNC:32235 RBIS ribosomal biogenesis factor protein-coding gene gene with protein product Approved 8q21.2 08q21.2 ribosome biogenesis factor identified in screen C8orf59 chromosome 8 open reading frame 59 Ribosomal biogenesis factors 1729 2005-09-05 2019-02-18 2019-02-18 2023-01-20 401466 ENSG00000176731 OTTHUMG00000164787 uc033brx.2 BC032347 NM_001099670 "CCDS55255|CCDS78351" Q8N0T1 "26711351|23973377" MGI:1916376 RGD:1565641 HGNC:32235 "ENST00000619594.5|NM_001099673.3" HGNC:51355 RBISP1 RBIS pseudogene 1 pseudogene pseudogene Approved 10p13 10p13 C8orf59P1 chromosome 8 open reading frame 59 pseudogene 1 2014-10-15 2019-03-01 2019-03-01 2019-03-01 106481719 ENSG00000226209 OTTHUMG00000187414 NG_043371 HGNC:51355 HGNC:51357 RBISP2 RBIS pseudogene 2 pseudogene pseudogene Approved 5p13.2 05p13.2 C8orf59P2 chromosome 8 open reading frame 59 pseudogene 2 2014-10-15 2019-03-01 2019-03-01 2019-03-01 106480687 ENSG00000271378 OTTHUMG00000184568 NG_043304 PGOHUM00000300928 HGNC:51357 HGNC:56396 RBISP3 RBIS pseudogene 3 pseudogene pseudogene Approved 12q24.11 12q24.11 2022-10-18 2022-10-18 127379684 ENSG00000256351 @@ -27806,7 +27809,7 @@ HGNC:56397 RBISP4 RBIS pseudogene 4 pseudogene pseudogene Approved 6q21 06q21 HGNC:56395 RBISP5 RBIS pseudogene 5 pseudogene pseudogene Approved 2p16.3 02p16.3 2022-10-18 2022-10-18 127379683 ENSG00000224058 NG_115686 HGNC:56398 RBISP6 RBIS pseudogene 6 pseudogene pseudogene Approved 3p24.3 03p24.3 2022-10-18 2022-10-18 127379686 ENSG00000231780 NG_115688 PGOHUM00000299360 HGNC:30325 RBKS ribokinase protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "DKFZp686G13268|RBSK" 2004-01-12 2023-01-20 64080 ENSG00000171174 OTTHUMG00000097833 uc002rlo.3 BC017425 NM_022128 CCDS1762 Q9H477 8382990 MGI:1918586 RGD:1310064 611132 2.7.1.15 HGNC:30325 "ENST00000302188.8|NM_022128.3" -HGNC:9893 RBL1 RB transcriptional corepressor like 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "p107|cp107|PRB1" retinoblastoma-like 1 1994-01-07 2016-05-24 2023-01-20 5933 ENSG00000080839 OTTHUMG00000032406 uc002xgi.5 L14812 NM_002895 "CCDS13290|CCDS13289" P28749 1833063 MGI:103300 RGD:1595511 116957 HGNC:9893 "ENST00000373664.8|NM_002895.5" +HGNC:9893 RBL1 RB transcriptional corepressor like 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "p107|cp107|PRB1" retinoblastoma-like 1 1994-01-07 2016-05-24 2023-01-20 5933 ENSG00000080839 OTTHUMG00000032406 uc002xgi.5 L14812 NM_002895 "CCDS13289|CCDS13290" P28749 1833063 MGI:103300 RGD:1595511 116957 HGNC:9893 "ENST00000373664.8|NM_002895.5" HGNC:9894 RBL2 RB transcriptional corepressor like 2 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "Rb2|p130" retinoblastoma-like 2 1994-01-17 2016-05-24 2023-01-20 5934 ENSG00000103479 OTTHUMG00000133198 uc002ehi.5 X74594 NM_005611 CCDS10748 Q08999 "8361765|8643454" MGI:105085 RGD:3541 180203 HGNC:9894 "ENST00000262133.11|NM_005611.4" HGNC:9894 HGNC:9900 RBM3 RNA binding motif protein 3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 IS1-RNPL RNA binding motif containing 725 1995-08-29 2017-09-15 2023-01-20 5935 ENSG00000102317 OTTHUMG00000024121 uc004dkf.3 BC006825 NM_006743 CCDS14301 P98179 8634703 MGI:1099460 RGD:620145 300027 HGNC:9900 "ENST00000376759.8|NM_006743.5" HGNC:9901 RBM4 RNA binding motif protein 4 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "LARK|RBM4A|ZCRB3A|ZCCHC21" "Zinc fingers CCHC-type|RNA binding motif containing" "74|725" 1997-12-23 2023-01-20 5936 ENSG00000173933 OTTHUMG00000154171 uc001oiw.3 U89505 NM_002896 "CCDS41676|CCDS55776|CCDS55777" Q9BWF3 "9169144|16260624" MGI:1100865 RGD:1306891 602571 HGNC:9901 "ENST00000310092.12|NM_002896.4" @@ -27814,20 +27817,20 @@ HGNC:28842 RBM4B RNA binding motif protein 4B protein-coding gene gene with prot HGNC:9902 RBM5 RNA binding motif protein 5 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LUCA15|LUCA-15|H37" "Zinc fingers RANBP2-type |G-patch domain containing|RNA binding motif containing|Spliceosomal A complex" "89|579|725|1504" 1998-09-30 2023-01-20 10181 ENSG00000003756 OTTHUMG00000156785 uc003cyg.4 U23946 NM_005778 CCDS2810 P52756 "10352938|23935508" MGI:1933204 RGD:1305059 606884 HGNC:9902 "ENST00000347869.8|NM_005778.4" HGNC:48871 RBM5-AS1 RBM5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 LUST LUCA-15-specific transcript Antisense RNAs 1987 2013-06-15 2016-11-24 100775107 ENSG00000281691 OTTHUMG00000189567 EF470865 NR_045388 "10949932|19559772" LUST RBM5-AS1 HGNC:48871 HGNC:9903 RBM6 RNA binding motif protein 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "DEF-3|3G2|NY-LU-12|g16|DEF3" "G-patch domain containing|RNA binding motif containing" "579|725" 1998-09-30 2023-01-20 10180 ENSG00000004534 OTTHUMG00000156736 uc003cyc.4 AF069517 NM_005777 "CCDS54586|CCDS2809" P78332 10352938 MGI:1338037 RGD:1560367 606886 HGNC:9903 "ENST00000266022.9|NM_005777.3" -HGNC:9904 RBM7 RNA binding motif protein 7 protein-coding gene gene with protein product Approved 11q23.1-q23.2 11q23.1-q23.2 "RNA binding motif containing|Nuclear exosome targeting complex" "725|1316" 1998-10-01 2023-01-20 10179 ENSG00000076053 OTTHUMG00000168270 uc001pov.5 AF156098 NM_016090 "CCDS66233|CCDS73395|CCDS8370" Q9Y580 25852104 MGI:1914260 RGD:1308017 612413 HGNC:9904 "ENST00000375490.10|NM_001286045.2" +HGNC:9904 RBM7 RNA binding motif protein 7 protein-coding gene gene with protein product Approved 11q23.1-q23.2 11q23.1-q23.2 "RNA binding motif containing|Nuclear exosome targeting complex" "725|1316" 1998-10-01 2023-01-20 10179 ENSG00000076053 OTTHUMG00000168270 uc001pov.5 AF156098 NM_016090 "CCDS8370|CCDS73395|CCDS66233" Q9Y580 25852104 MGI:1914260 RGD:1308017 612413 HGNC:9904 "ENST00000375490.10|NM_001286045.2" HGNC:54704 RBM7P1 RBM7 pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2019-12-05 2019-12-05 100420108 ENSG00000223427 NG_023576 HGNC:9905 RBM8A RNA binding motif protein 8A protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "ZNRP|BOV-1A|BOV-1B|BOV-1C|Y14" binder of OVCA1 RBM8 "RNA binding motif containing|Exon junction complex|Spliceosomal P complex" "725|1238|1516" 1999-05-05 2023-01-20 9939 ENSG00000265241 OTTHUMG00000013736 uc031uto.3 AF127761 NM_005105 CCDS72872 Q9Y5S9 "11004516|11013075" MGI:1913129 RGD:1310099 LRG_574|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_574.xml 605313 296697 HGNC:9905 "ENST00000583313.7|NM_005105.5" HGNC:9905 HGNC:13426 RBM8B RNA binding motif protein 8B pseudogene pseudogene pseudogene Approved 14q23.1 14q23.1 2000-10-23 2013-06-10 112846 ENSG00000258427 OTTHUMG00000171184 AF403013 NG_002415 11013075 PGOHUM00000261853 HGNC:13426 -HGNC:9896 RBM10 RNA binding motif protein 10 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "DXS8237E|KIAA0122|GPATC9|ZRANB5|GPATCH9|S1-1" "G-patch domain containing 9|zinc finger RANBP2-type containing 5" "Zinc fingers RANBP2-type |G-patch domain containing|RNA binding motif containing|Spliceosomal A complex" "89|579|725|1504" 2000-02-21 2023-01-20 8241 ENSG00000182872 OTTHUMG00000021432 uc004dhf.4 U35373 NM_005676 "CCDS56600|CCDS14274|CCDS78478|CCDS75969" "P0DW28|P98175" "8590280|8808293|8760884|20451169" MGI:2384310 RGD:631366 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RBM10 RBM10 300080 233025 HGNC:9896 "ENST00000377604.8|NM_005676.5" HGNC:9896 +HGNC:9896 RBM10 RNA binding motif protein 10 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "DXS8237E|KIAA0122|GPATC9|ZRANB5|GPATCH9|S1-1" "G-patch domain containing 9|zinc finger RANBP2-type containing 5" "Zinc fingers RANBP2-type |G-patch domain containing|RNA binding motif containing|Spliceosomal A complex" "89|579|725|1504" 2000-02-21 2023-01-20 8241 ENSG00000182872 OTTHUMG00000021432 uc004dhf.4 U35373 NM_005676 "CCDS56600|CCDS14274|CCDS75969|CCDS78478" "P0DW28|P98175" "8590280|8808293|8760884|20451169" MGI:2384310 RGD:631366 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RBM10 RBM10 300080 233025 HGNC:9896 "ENST00000377604.8|NM_005676.5" HGNC:9896 HGNC:9897 RBM11 RNA binding motif protein 11 protein-coding gene gene with protein product Approved 21q11.2 21q11.2 RNA binding motif containing 725 2000-05-23 2023-01-20 54033 ENSG00000185272 OTTHUMG00000074263 uc002yjo.5 AF130358 NM_144770 CCDS46635 P57052 12036298 MGI:2447622 RGD:1305195 617937 HGNC:9897 "ENST00000400577.4|NM_144770.5" HGNC:43743 RBM11P1 RNA binding motif protein 11 pseudogene 1 pseudogene pseudogene Approved 6q23.2 06q23.2 2012-02-20 2014-05-12 100420213 ENSG00000271488 OTTHUMG00000184398 NG_025978 PGOHUM00000243780 HGNC:43743 HGNC:9898 RBM12 RNA binding motif protein 12 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "HRIHFB2091|KIAA0765|SWAN" RNA binding motif containing 725 2000-06-28 2023-01-20 10137 ENSG00000244462 OTTHUMG00000032350 uc002xdr.4 AJ289772 NM_006047 CCDS13261 Q9NTZ6 "11435693|28628109" MGI:1922960 RGD:1594333 607179 HGNC:9898 "ENST00000374114.8|NM_006047.6" HGNC:32310 RBM12B RNA binding motif protein 12B protein-coding gene gene with protein product Approved 8q22.1 08q22.1 RNA binding motif containing 725 2005-09-27 2023-01-20 389677 ENSG00000183808 OTTHUMG00000164317 uc003yfz.5 NM_203390 CCDS43755 Q8IXT5 "MGI:1919647|MGI:1924854" RGD:1307658 HGNC:32310 "ENST00000520560.6|NM_001377960.1" HGNC:28818 RBM12B-AS1 RBM12B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 PRO1905 C8orf39 "chromosome 8 open reading frame 39|RBM12B antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-07-27 2012-04-11 2012-08-15 2015-02-09 55472 ENSG00000279331 OTTHUMG00000187194 uc011lgj.2 AF116672 NR_027259 Q9P1G2 RBM12B-AS1 HGNC:28818 HGNC:55529 RBM12B-DT RBM12B divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 Divergent transcripts 1990 2021-03-22 2021-03-22 2021-03-22 2021-03-22 105375645 ENSG00000253848 NR_183449 -HGNC:14219 RBM14 RNA binding motif protein 14 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "SIP|SYTIP1|COAA|DKFZp779J0927" "coactivator activator|SYT interacting protein" RNA binding motif containing 725 2001-02-06 2023-01-20 10432 ENSG00000239306 OTTHUMG00000140380 uc001oit.4 AF080561 NM_006328 "CCDS55773|CCDS8147|CCDS55772" Q96PK6 9285794 MGI:1929092 RGD:620542 612409 HGNC:14219 "ENST00000310137.5|NM_006328.4" +HGNC:14219 RBM14 RNA binding motif protein 14 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "SIP|SYTIP1|COAA|DKFZp779J0927" "coactivator activator|SYT interacting protein" RNA binding motif containing 725 2001-02-06 2023-01-20 10432 ENSG00000239306 OTTHUMG00000140380 uc001oit.4 AF080561 NM_006328 "CCDS55772|CCDS8147|CCDS55773" Q96PK6 9285794 MGI:1929092 RGD:620542 612409 HGNC:14219 "ENST00000310137.5|NM_006328.4" HGNC:38840 RBM14-RBM4 RBM14-RBM4 readthrough other readthrough Approved 11q13.2 11q13.2 2011-02-21 2023-03-15 100526737 ENSG00000248643 OTTHUMG00000160813 uc009yrk.4 NM_001198845.1 MGI:1929092 HGNC:38840 -HGNC:14959 RBM15 RNA binding motif protein 15 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "OTT|OTT1" one twenty-two "RNA binding motif containing|WTAP complex" "725|1420" 2001-05-10 2023-01-20 64783 ENSG00000162775 OTTHUMG00000011284 uc021orn.2 AF368063 NM_022768 "CCDS59198|CCDS822" Q96T37 "11431691|11344311" MGI:2443205 RGD:1592713 RBM15 606077 409871 HGNC:14959 "ENST00000369784.9|NM_022768.5" +HGNC:14959 RBM15 RNA binding motif protein 15 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "OTT|OTT1" one twenty-two "RNA binding motif containing|WTAP complex" "725|1420" 2001-05-10 2023-01-20 64783 ENSG00000162775 OTTHUMG00000011284 uc021orn.2 AF368063 NM_022768 "CCDS822|CCDS59198" Q96T37 "11431691|11344311" MGI:2443205 RGD:1592713 RBM15 606077 409871 HGNC:14959 "ENST00000369784.9|NM_022768.5" HGNC:53636 RBM15-AS1 RBM15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 AS-RBM15 Antisense RNAs 1987 2017-08-23 2017-08-23 440600 ENSG00000227963 OTTHUMG00000011283 NR_036595 27118388 HGNC:53636 HGNC:24303 RBM15B RNA binding motif protein 15B protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "HUMAGCGB|OTT3" RNA binding motif containing 725 2004-11-10 2023-01-20 29890 ENSG00000259956 OTTHUMG00000156896 uc003dbd.4 AL831838 NM_013286 CCDS33764 Q8NDT2 16129689 MGI:1923598 RGD:1305937 612602 HGNC:24303 "ENST00000563281.2|NM_013286.5" HGNC:16944 RBM17 RNA binding motif protein 17 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "SPF45|MGC14439" splicing factor 45kDa "G-patch domain containing|RNA binding motif containing|Spliceosomal A complex" "579|725|1504" 2004-01-30 2023-01-20 84991 ENSG00000134453 OTTHUMG00000017618 uc010qav.3 AF083384 NM_032905 CCDS7077 Q96I25 9731529 MGI:1924188 RGD:1311208 606935 HGNC:16944 "ENST00000379888.9|NM_032905.5" @@ -27849,11 +27852,11 @@ HGNC:39700 RBM22P7 RNA binding motif protein 22 pseudogene 7 pseudogene pseudoge HGNC:39704 RBM22P11 RNA binding motif protein 22 pseudogene 11 pseudogene pseudogene Approved Xp11.22 Xp11.22 RBM22P8 RNA binding motif protein 22 pseudogene 8 2011-03-23 2015-03-06 100132115 NG_011615 PGOHUM00000305071 HGNC:39704 HGNC:49207 RBM22P12 RNA binding motif protein 22 pseudogene 12 pseudogene pseudogene Approved 16p11.2 16p11.2 2013-10-08 2015-03-06 100131641 ENSG00000260631 OTTHUMG00000154500 NG_011573 PGOHUM00000293783 HGNC:49207 HGNC:49208 RBM22P13 RNA binding motif protein 22 pseudogene 13 pseudogene pseudogene Approved 16p11.2 16p11.2 2013-10-08 2015-03-06 2015-03-06 100130603 ENSG00000261284 OTTHUMG00000176533 NG_011574 PGOHUM00000293787 HGNC:49208 -HGNC:20155 RBM23 RNA binding motif protein 23 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "FLJ10482|CAPERbeta" coactivator of activating protein-1 and estrogen receptors beta RNPC4 RNA-binding region (RNP1, RRM) containing 4 RNA binding motif containing 725 2002-12-18 2004-04-23 2004-04-23 2023-01-20 55147 ENSG00000100461 OTTHUMG00000171467 uc001whg.4 AF275678 NM_001077351 "CCDS41919|CCDS76658|CCDS41921|CCDS41920" Q86U06 15694343 HGNC:20155 "ENST00000359890.8|NM_001077351.2" -HGNC:21539 RBM24 RNA binding motif protein 24 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "FLJ30829|dJ259A10.1" RNPC6 RNA-binding region (RNP1, RRM) containing 6 RNA binding motif containing 725 2003-06-24 2004-04-23 2004-04-23 2023-01-20 221662 ENSG00000112183 OTTHUMG00000014306 uc003nbz.5 BC040928 NM_153020 "CCDS47379|CCDS47378|CCDS4538" Q9BX46 MGI:3610364 RGD:1584029 617603 HGNC:21539 "ENST00000379052.10|NM_001143942.2" +HGNC:20155 RBM23 RNA binding motif protein 23 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "FLJ10482|CAPERbeta" coactivator of activating protein-1 and estrogen receptors beta RNPC4 RNA-binding region (RNP1, RRM) containing 4 RNA binding motif containing 725 2002-12-18 2004-04-23 2004-04-23 2023-01-20 55147 ENSG00000100461 OTTHUMG00000171467 uc001whg.4 AF275678 NM_001077351 "CCDS41921|CCDS76658|CCDS41919|CCDS41920" Q86U06 15694343 HGNC:20155 "ENST00000359890.8|NM_001077351.2" +HGNC:21539 RBM24 RNA binding motif protein 24 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "FLJ30829|dJ259A10.1" RNPC6 RNA-binding region (RNP1, RRM) containing 6 RNA binding motif containing 725 2003-06-24 2004-04-23 2004-04-23 2023-01-20 221662 ENSG00000112183 OTTHUMG00000014306 uc003nbz.5 BC040928 NM_153020 "CCDS4538|CCDS47379|CCDS47378" Q9BX46 MGI:3610364 RGD:1584029 617603 HGNC:21539 "ENST00000379052.10|NM_001143942.2" HGNC:23244 RBM25 RNA binding motif protein 25 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "S164|fSAP94|NET52|Snu71" functional spliceosome-associated protein 94 RNPC7 RNA-binding region (RNP1, RRM) containing 7 "RNA binding motif containing|Spliceosomal A complex" "725|1504" 2003-12-09 2004-04-29 2004-04-23 2023-01-20 58517 ENSG00000119707 OTTHUMG00000167540 uc001xno.4 BX647116 NM_021239 CCDS32113 P49756 "9847074|7596406" MGI:1914289 RGD:1308755 612427 HGNC:23244 "ENST00000261973.12|NM_021239.3" HGNC:55437 RBM25-AS1 RBM25 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 Antisense RNAs 1987 2021-01-14 2021-01-14 105370560 ENSG00000258813 NR_184255 -HGNC:20327 RBM26 RNA binding motif protein 26 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 "PRO1777|SE70-2|FLJ20957|ZC3H17|ARRS2|PPP1R132" "acidic rich RS domain containing 2|protein phosphatase 1, regulatory 132" C13orf10 chromosome 13 open reading frame 10 "Zinc fingers CCCH-type|Protein phosphatase 1 regulatory subunits|RNA binding motif containing" "73|694|725" 2003-01-24 2006-06-22 2006-06-22 2023-01-20 64062 ENSG00000139746 OTTHUMG00000017133 uc001vky.4 AF116667 NM_022118 "CCDS9462|CCDS73591|CCDS91822|CCDS66566" Q5T8P6 "11149944|15741184" MGI:1921463 RGD:1308297 620081 HGNC:20327 "ENST00000438737.3|NM_001366735.2" +HGNC:20327 RBM26 RNA binding motif protein 26 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 "PRO1777|SE70-2|FLJ20957|ZC3H17|ARRS2|PPP1R132" "acidic rich RS domain containing 2|protein phosphatase 1, regulatory 132" C13orf10 chromosome 13 open reading frame 10 "Zinc fingers CCCH-type|Protein phosphatase 1 regulatory subunits|RNA binding motif containing" "73|694|725" 2003-01-24 2006-06-22 2006-06-22 2023-01-20 64062 ENSG00000139746 OTTHUMG00000017133 uc001vky.4 AF116667 NM_022118 "CCDS91822|CCDS73591|CCDS9462|CCDS66566" Q5T8P6 "11149944|15741184" MGI:1921463 RGD:1308297 620081 HGNC:20327 "ENST00000438737.3|NM_001366735.2" HGNC:39805 RBM26-AS1 RBM26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 RBM26 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-29 2012-08-15 2014-11-19 100505538 ENSG00000227354 OTTHUMG00000017131 uc001vle.4 BC034812 NR_038991 RBM26-AS1 HGNC:39805 HGNC:29243 RBM27 RNA binding motif protein 27 protein-coding gene gene with protein product Approved 5q32 05q32 "KIAA1311|ARRS1|Psc1|ZC3H20" acidic rich RS domain containing 1 "Zinc fingers CCCH-type|RNA binding motif containing" "73|725" 2004-04-23 2023-01-20 54439 ENSG00000091009 OTTHUMG00000163436 uc003lnz.5 AL833706 NM_018989 CCDS43378 Q9P2N5 "10718198|15741184" MGI:2147194 RGD:1311966 620082 HGNC:29243 "ENST00000265271.7|NM_018989.2" HGNC:21863 RBM28 RNA binding motif protein 28 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "FLJ10377|NOP4" RNA binding motif containing 725 2004-06-03 2023-01-26 55131 ENSG00000106344 OTTHUMG00000157711 uc031szb.2 AK001239 NM_018077 "CCDS5801|CCDS55159" Q9NW13 "17081119|18439547" MGI:2655711 RGD:1311336 612074 159449 HGNC:21863 "ENST00000223073.6|NM_018077.3" HGNC:21863 @@ -27869,16 +27872,16 @@ HGNC:28117 RBM42 RNA binding motif protein 42 protein-coding gene gene with prot HGNC:24790 RBM43 RNA binding motif protein 43 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 FLJ45645 C2orf38 chromosome 2 open reading frame 38 RNA binding motif containing 725 2006-05-08 2007-01-30 2007-01-30 2023-01-20 375287 ENSG00000184898 OTTHUMG00000131866 uc002txh.4 AK127552 NM_198557 CCDS2191 Q6ZSC3 MGI:1918934 RGD:1306676 HGNC:24790 "ENST00000331426.6|NM_198557.3" HGNC:46024 RBM43P1 RNA binding motif protein 43 pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 2013-03-19 2013-03-19 100131568 ENSG00000239263 OTTHUMG00000158769 NG_034059 PGOHUM00000237645 HGNC:46024 HGNC:24756 RBM44 RNA binding motif protein 44 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 FLJ40411 RNA binding motif containing 725 2007-06-20 2023-01-20 375316 ENSG00000177483 OTTHUMG00000152937 uc002vxi.5 AK097730 NM_001080504 CCDS46554 Q6ZP01 MGI:2685663 RGD:1566074 HGNC:24756 "ENST00000316997.9|NM_001080504.3" -HGNC:24468 RBM45 RNA binding motif protein 45 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "DRB1|FLJ44612" developmentally regulated RNA binding protein 1 RNA binding motif containing 725 2007-07-26 2023-01-20 129831 ENSG00000155636 OTTHUMG00000154202 uc002ulv.4 AF526533 NM_152945 "CCDS92906|CCDS33335" Q8IUH3 12220514 MGI:2387367 RGD:628862 608888 HGNC:24468 "ENST00000286070.10|NM_152945.4" -HGNC:28401 RBM46 RNA binding motif protein 46 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "MGC27016|CT68" cancer/testis antigen 68 RNA binding motif containing 725 2007-10-24 2023-01-20 166863 ENSG00000151962 OTTHUMG00000161543 uc003ioo.5 BC028588 NM_144979 "CCDS64086|CCDS3790|CCDS64085" Q8TBY0 28212427 MGI:3645057 RGD:1560205 620147 HGNC:28401 "ENST00000281722.8|NM_144979.5" -HGNC:30358 RBM47 RNA binding motif protein 47 protein-coding gene gene with protein product Approved 4p14 04p14 "FLJ20273|NET18" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2007-10-25 2023-01-20 54502 ENSG00000163694 OTTHUMG00000128598 uc003gvd.3 AK000280 NM_019027 "CCDS3460|CCDS93492|CCDS43223" A0AV96 MGI:2384294 RGD:1359713 619104 HGNC:30358 "ENST00000295971.12|NM_001098634.2" +HGNC:24468 RBM45 RNA binding motif protein 45 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "DRB1|FLJ44612" developmentally regulated RNA binding protein 1 RNA binding motif containing 725 2007-07-26 2023-01-20 129831 ENSG00000155636 OTTHUMG00000154202 uc002ulv.4 AF526533 NM_152945 "CCDS33335|CCDS92906" Q8IUH3 12220514 MGI:2387367 RGD:628862 608888 HGNC:24468 "ENST00000286070.10|NM_152945.4" +HGNC:28401 RBM46 RNA binding motif protein 46 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "MGC27016|CT68" cancer/testis antigen 68 RNA binding motif containing 725 2007-10-24 2023-01-20 166863 ENSG00000151962 OTTHUMG00000161543 uc003ioo.5 BC028588 NM_144979 "CCDS3790|CCDS64085|CCDS64086" Q8TBY0 28212427 MGI:3645057 RGD:1560205 620147 HGNC:28401 "ENST00000281722.8|NM_144979.5" +HGNC:30358 RBM47 RNA binding motif protein 47 protein-coding gene gene with protein product Approved 4p14 04p14 "FLJ20273|NET18" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2007-10-25 2023-01-20 54502 ENSG00000163694 OTTHUMG00000128598 uc003gvd.3 AK000280 NM_019027 "CCDS3460|CCDS43223|CCDS93492" A0AV96 MGI:2384294 RGD:1359713 619104 HGNC:30358 "ENST00000295971.12|NM_001098634.2" HGNC:21785 RBM48 RNA binding motif protein 48 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "DKFZp564O0523|HSPC304" C7orf64 chromosome 7 open reading frame 64 RNA binding motif containing 725 2008-08-11 2011-12-09 2011-12-09 2023-01-20 84060 ENSG00000127993 OTTHUMG00000159535 uc003ulz.4 AL136619 NM_032120 CCDS43615 Q5RL73 33509932 MGI:2442653 RGD:1310794 HGNC:21785 "ENST00000265732.10|NM_032120.4" HGNC:44054 RBM48P1 RNA binding motif protein 48 pseudogene 1 pseudogene pseudogene Approved 4q28.1 04q28.1 2012-05-30 2012-05-30 132817 ENSG00000223620 OTTHUMG00000161147 NG_022076 PGOHUM00000259956 HGNC:44054 HGNC:9907 RBMS1 RNA binding motif single stranded interacting protein 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "SCR2|MSSP-1|MSSP-2|MSSP-3|YC1|HCC-4|DKFZp564H0764" "suppressor of cdc 2 (cdc13) with RNA binding motif 2|c-myc gene single strand binding protein 2" C2orf12 chromosome 2 open reading frame 12 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 1998-02-27 2016-04-14 2023-03-15 5937 ENSG00000153250 OTTHUMG00000132031 uc002ubo.4 D28482 NM_016836 CCDS2213 P29558 "8041632|8134115|7838710" MGI:1861774 RGD:1307777 602310 HGNC:9907 "ENST00000348849.8|NM_016836.4" HGNC:9908 RBMS1P1 RNA binding motif single stranded interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 12q14.3 12q14.3 MSSP1 RBMS1P RNA binding motif, single stranded interacting protein 1, pseudogene 1998-02-27 2010-03-04 2016-04-14 2016-04-14 5938 ENSG00000225422 D82351 NG_000866 8871567 PGOHUM00000239501 HGNC:9908 HGNC:9909 RBMS2 RNA binding motif single stranded interacting protein 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 SCR3 RNA binding motif containing 725 1998-02-27 2016-04-14 2023-01-20 5939 ENSG00000076067 OTTHUMG00000170488 uc001sln.3 D28483 NM_002898 CCDS8923 Q15434 8041632 MGI:1861776 RGD:1304813 602387 HGNC:9909 "ENST00000262031.10|NM_002898.4" HGNC:30994 RBMS2P1 RNA binding motif single stranded interacting protein 2 pseudogene 1 pseudogene pseudogene Approved 12q22 12q22 RBMS2P "RNA binding motif, single stranded interacting protein 2 pseudogene|RNA binding motif, single stranded interacting protein 2 pseudogene 1" 2007-08-17 2010-03-05 2016-04-14 2016-04-14 643427 ENSG00000213250 OTTHUMG00000165432 NG_008697 PGOHUM00000239547 HGNC:30994 -HGNC:13427 RBMS3 RNA binding motif single stranded interacting protein 3 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 RNA-binding protein "RNA binding motif, single stranded interacting protein|RNA binding motif, single stranded interacting protein 3" RNA binding motif containing 725 2001-06-25 2016-04-14 2023-01-20 27303 ENSG00000144642 OTTHUMG00000155699 uc003cek.4 AF023259 NM_001003792 "CCDS33724|CCDS54557|CCDS33726|CCDS87056|CCDS54558|CCDS33725" Q6XE24 10675610 MGI:2444477 RGD:1588240 605786 HGNC:13427 "ENST00000383767.7|NM_001003793.3" +HGNC:13427 RBMS3 RNA binding motif single stranded interacting protein 3 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 RNA-binding protein "RNA binding motif, single stranded interacting protein|RNA binding motif, single stranded interacting protein 3" RNA binding motif containing 725 2001-06-25 2016-04-14 2023-01-20 27303 ENSG00000144642 OTTHUMG00000155699 uc003cek.4 AF023259 NM_001003792 "CCDS33724|CCDS54557|CCDS33726|CCDS33725|CCDS54558|CCDS87056" Q6XE24 10675610 MGI:2444477 RGD:1588240 605786 HGNC:13427 "ENST00000383767.7|NM_001003793.3" HGNC:39987 RBMS3-AS1 RBMS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 RBMS3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873977 ENSG00000235593 OTTHUMG00000155691 uc062hsw.1 NR_046556 RBMS3-AS1 HGNC:39987 HGNC:39988 RBMS3-AS2 RBMS3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 RBMS3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873978 ENSG00000203506 OTTHUMG00000155692 uc062hsm.1 NR_046557 RBMS3-AS2 HGNC:39988 HGNC:39989 RBMS3-AS3 RBMS3 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 RBMS3 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873979 ENSG00000235904 OTTHUMG00000155693 uc062hsg.1 NR_109804 RBMS3-AS3 HGNC:39989 @@ -27901,9 +27904,9 @@ HGNC:9912 RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 protein- HGNC:18849 RBMY1A3P RNA binding motif protein Y-linked family 1 member A3, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 "RNA binding motif protein, Y chromosome, family 1, member A3 pseudogene|RNA binding motif protein, Y-linked, family 1, member A3 pseudogene" 2002-07-22 2019-07-30 2019-07-30 286557 ENSG00000197038 OTTHUMG00000041536 NR_001547 PGOHUM00000261003 HGNC:18849 HGNC:23914 RBMY1B RNA binding motif protein Y-linked family 1 member B protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 1, member B RNA binding motif containing 725 2004-12-10 2019-07-30 2023-01-20 378948 ENSG00000242875 OTTHUMG00000042045 uc004fuo.4 NM_001006121 CCDS35479 A6NDE4 12815422 "MGI:104732|MGI:3708825|MGI:3710530|MGI:3781554|MGI:3782239|MGI:5435032|MGI:5435048|MGI:5435059|MGI:5435063" HGNC:23914 "ENST00000383020.7|NM_001006121.4" HGNC:9914 RBMY1C RNA binding motif protein Y-linked family 1 member C protein-coding gene gene with protein product Approved Yq11.23 not on reference assembly Yq11.23 not on reference assembly "RNA binding motif protein, Y chromosome, family 1, member C|RNA binding motif protein, Y-linked, family 1, member C" RNA binding motif containing 725 1998-06-04 2019-07-30 2019-07-30 5942 P0DJD4 9598316 -HGNC:23915 RBMY1D RNA binding motif protein Y-linked family 1 member D protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 1, member D RNA binding motif containing 725 2004-12-10 2019-07-30 2023-01-20 378949 ENSG00000244395 OTTHUMG00000043598 uc004fuu.3 NM_001006120 "CCDS83521|CCDS35480" P0C7P1 12815422 HGNC:23915 "ENST00000382680.5|NM_001006120.3" +HGNC:23915 RBMY1D RNA binding motif protein Y-linked family 1 member D protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 1, member D RNA binding motif containing 725 2004-12-10 2019-07-30 2023-01-20 378949 ENSG00000244395 OTTHUMG00000043598 uc004fuu.3 NM_001006120 "CCDS35480|CCDS83521" P0C7P1 12815422 HGNC:23915 "ENST00000382680.5|NM_001006120.3" HGNC:23916 RBMY1E RNA binding motif protein Y-linked family 1 member E protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 1, member E RNA binding motif containing 725 2004-12-10 2019-07-30 2023-01-20 378950 ENSG00000242389 OTTHUMG00000043602 uc004fuw.4 NM_001006118 CCDS35481 A6NEQ0 12815422 HGNC:23916 "ENST00000382659.7|NM_001006118.3" -HGNC:23974 RBMY1F RNA binding motif protein Y-linked family 1 member F protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 MGC33094 RNA binding motif protein, Y-linked, family 1, member F RNA binding motif containing 725 2004-12-10 2019-07-30 2023-01-20 159163 ENSG00000169800 OTTHUMG00000043593 uc004fva.4 BC030018 NM_152585 "CCDS94717|CCDS35483" Q15415 12815422 HGNC:23974 "ENST00000303766.12|NM_152585.3" +HGNC:23974 RBMY1F RNA binding motif protein Y-linked family 1 member F protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 MGC33094 RNA binding motif protein, Y-linked, family 1, member F RNA binding motif containing 725 2004-12-10 2019-07-30 2023-01-20 159163 ENSG00000169800 OTTHUMG00000043593 uc004fva.4 BC030018 NM_152585 "CCDS35483|CCDS94717" Q15415 12815422 HGNC:23974 "ENST00000303766.12|NM_152585.3" HGNC:9915 RBMY1GP RNA binding motif protein Y-linked family 1 member G, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 RBMY1G "RNA binding motif protein, Y chromosome, family 1, member G|RNA binding motif protein, Y-linked, family 1, member G, pseudogene" 1998-06-04 2019-07-30 2019-07-30 100287769 NG_027927 PGOHUM00000249978 HGNC:9915 HGNC:9916 RBMY1HP RNA binding motif protein Y-linked family 1 member H, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RBMY1H "RNA binding motif protein, Y chromosome, family 1, member H|RNA binding motif protein, Y-linked, family 1, member H|RNA binding motif protein, Y-linked, family 1, member H, pseudogene" 1998-06-04 2011-09-15 2019-07-30 2021-10-07 5944 ENSG00000169811 OTTHUMG00000042043 NG_004832 9598316 PGOHUM00000261063 HGNC:9916 HGNC:23917 RBMY1J RNA binding motif protein Y-linked family 1 member J protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 1, member J RNA binding motif containing 725 2004-12-10 2019-07-30 2023-01-20 378951 ENSG00000226941 OTTHUMG00000043594 uc004fvd.4 NM_001006117 CCDS35484 Q15415 12815422 RGD:9125062 HGNC:23917 "ENST00000250831.6|NM_001006117.4" @@ -27930,14 +27933,14 @@ HGNC:23900 RBMY2WP RNA binding motif protein Y-linked family 2 member W, pseudog HGNC:23901 RBMY2XP RNA binding motif protein Y-linked family 2 member X, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 RNA binding motif protein, Y-linked, family 2, member X pseudogene 2004-12-10 2019-07-30 2019-07-30 379012 ENSG00000234399 OTTHUMG00000045103 NG_003092 12815422 HGNC:23901 HGNC:23902 RBMY2YP RNA binding motif protein Y-linked family 2 member Y, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 RNA binding motif protein, Y-linked, family 2, member Y pseudogene 2004-12-10 2019-07-30 2019-07-30 379024 ENSG00000227633 OTTHUMG00000045208 NG_003070 12815422 HGNC:23902 HGNC:23286 RBMY3AP RNA binding motif protein Y-linked family 3 member A, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 "SPATA14|RBMY4P|RBMY3P" RNA binding motif protein, Y-linked, family 3, member A pseudogene 2003-11-21 2019-07-30 2019-07-30 64593 ENSG00000231436 OTTHUMG00000041525 U94386 NR_001573 12815422 HGNC:23286 -HGNC:9919 RBP1 retinol binding protein 1 protein-coding gene gene with protein product Approved 3q23 03q23 "CRABP-I|CRBP1|CRBP|RBPC|CRBPI|CRBP-I|hCRBP1" cellular retinol binding protein 1 retinol-binding protein 1, cellular Fatty acid binding protein family 550 1986-01-01 2015-12-04 2023-01-20 5947 ENSG00000114115 OTTHUMG00000155751 uc003eti.2 NM_002899 "CCDS3110|CCDS46925|CCDS46926|CCDS93396" P09455 "1654334|9858824" MGI:97876 RGD:3543 180260 objectId:2546 HGNC:9919 "ENST00000672186.1|NM_002899.5" +HGNC:9919 RBP1 retinol binding protein 1 protein-coding gene gene with protein product Approved 3q23 03q23 "CRABP-I|CRBP1|CRBP|RBPC|CRBPI|CRBP-I|hCRBP1" cellular retinol binding protein 1 retinol-binding protein 1, cellular Fatty acid binding protein family 550 1986-01-01 2015-12-04 2023-01-20 5947 ENSG00000114115 OTTHUMG00000155751 uc003eti.2 NM_002899 "CCDS46926|CCDS93396|CCDS3110|CCDS46925" P09455 "1654334|9858824" MGI:97876 RGD:3543 180260 objectId:2546 HGNC:9919 "ENST00000672186.1|NM_002899.5" HGNC:9920 RBP2 retinol binding protein 2 protein-coding gene gene with protein product Approved 3q23 03q23 "CRBP2|RBPC2|CRBPII|CRABP-II" retinol-binding protein 2, cellular Fatty acid binding protein family 550 1986-01-01 2015-12-04 2023-01-20 5948 ENSG00000114113 OTTHUMG00000159956 uc003eth.4 U13831 NM_004164 CCDS3109 P50120 "7657783|10072590" MGI:97877 RGD:3544 180280 objectId:2547 HGNC:9920 "ENST00000232217.6|NM_004164.3" HGNC:9921 RBP3 retinol binding protein 3 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "D10S64|D10S65|D10S66|RP66|IRBP" "interstitial retinol-binding protein 3|interphotoreceptor retinoid-binding protein" retinol-binding protein 3, interstitial 1986-01-01 2015-12-04 2023-05-17 5949 ENSG00000265203 OTTHUMG00000188321 uc001jez.3 M22453 NM_002900 CCDS73119 P10745 MGI:97878 RGD:3545 180290 288959 S41.950 objectId:2548 HGNC:9921 "ENST00000584701.2|NM_002900.3" HGNC:9921 HGNC:9922 RBP4 retinol binding protein 4 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 retinol-binding protein 4, plasma Lipocalins 631 2001-06-22 2015-12-04 2023-01-20 5950 ENSG00000138207 OTTHUMG00000018773 uc057uxf.1 BC020633 NM_006744 "CCDS31249|CCDS81488" P02753 MGI:97879 RGD:3546 180250 356203 objectId:2549 HGNC:9922 "ENST00000371464.8|NM_006744.4" HGNC:9922 HGNC:15847 RBP5 retinol binding protein 5 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CRBPIII|CRBP3|CRBP-III" retinol-binding protein 5, cellular Fatty acid binding protein family 550 2001-10-03 2015-12-04 2023-01-20 83758 ENSG00000139194 OTTHUMG00000168165 uc001qsq.4 AY007436 NM_031491 CCDS8574 P82980 11274389 611866 objectId:2550 HGNC:15847 "ENST00000266560.8|NM_031491.4" HGNC:30316 RBP7 retinol binding protein 7 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 CRBPIV cellular retinol binding protein 7 retinol binding protein 7, cellular Fatty acid binding protein family 550 2004-03-17 2015-12-04 2023-01-20 116362 ENSG00000162444 OTTHUMG00000001798 uc001aqq.4 AF399927 NM_052960 CCDS109 Q96R05 12177003 MGI:1890409 RGD:1562168 608604 objectId:2551 HGNC:30316 "ENST00000294435.8|NM_052960.3" -HGNC:5724 RBPJ recombination signal binding protein for immunoglobulin kappa J region protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "SUH|IGKJRB|RBPJK|KBF2|RBP-J|CBF1" suppressor of hairless homolog (Drosophila) "IGKJRB1|RBPSUH" recombining binding protein suppressor of hairless (Drosophila) "PTF1 complex|IPT domain containing" "1608|1752" 1993-04-23 2007-02-26 2007-02-26 2023-01-20 3516 ENSG00000168214 OTTHUMG00000097793 uc003grx.3 L07872 NM_015874 "CCDS87214|CCDS3437|CCDS33969|CCDS43219" Q06330 "8406481|9290259|16354684" MGI:96522 RGD:1593096 147183 310406 HGNC:5724 "ENST00000355476.8|NM_015874.6" HGNC:5724 -HGNC:13761 RBPJL recombination signal binding protein for immunoglobulin kappa J region like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "RBP-L|SUH|SUHL" RBPSUHL "recombining binding protein suppressor of hairless (Drosophila)-like|recombination signal binding protein for immunoglobulin kappa J region-like" PTF1 complex 1608 2000-12-14 2007-02-26 2016-04-06 2023-01-20 11317 ENSG00000124232 OTTHUMG00000033055 uc002xns.5 AB024964 NM_014276 "CCDS63284|CCDS63283|CCDS13349" Q9UBG7 9929984 MGI:1196616 RGD:1304786 616104 HGNC:13761 "ENST00000343694.8|NM_014276.4" +HGNC:5724 RBPJ recombination signal binding protein for immunoglobulin kappa J region protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "SUH|IGKJRB|RBPJK|KBF2|RBP-J|CBF1" suppressor of hairless homolog (Drosophila) "IGKJRB1|RBPSUH" recombining binding protein suppressor of hairless (Drosophila) "PTF1 complex|IPT domain containing" "1608|1752" 1993-04-23 2007-02-26 2007-02-26 2023-01-20 3516 ENSG00000168214 OTTHUMG00000097793 uc003grx.3 L07872 NM_015874 "CCDS43219|CCDS87214|CCDS3437|CCDS33969" Q06330 "8406481|9290259|16354684" MGI:96522 RGD:1593096 147183 310406 HGNC:5724 "ENST00000355476.8|NM_015874.6" HGNC:5724 +HGNC:13761 RBPJL recombination signal binding protein for immunoglobulin kappa J region like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "RBP-L|SUH|SUHL" RBPSUHL "recombining binding protein suppressor of hairless (Drosophila)-like|recombination signal binding protein for immunoglobulin kappa J region-like" PTF1 complex 1608 2000-12-14 2007-02-26 2016-04-06 2023-01-20 11317 ENSG00000124232 OTTHUMG00000033055 uc002xns.5 AB024964 NM_014276 "CCDS13349|CCDS63283|CCDS63284" Q9UBG7 9929984 MGI:1196616 RGD:1304786 616104 HGNC:13761 "ENST00000343694.8|NM_014276.4" HGNC:5725 RBPJP1 RBPJ pseudogene 1 pseudogene pseudogene Approved 9p13-p12 09p13-p12 "IGKJRBP1|RBPSUHP1" recombining binding protein suppressor of hairless (Drosophila) pseudogene 1 1993-04-23 2007-02-26 2007-02-26 2009-10-26 100310842 L07873 NG_013295 "8406481|9290259" HGNC:5726 RBPJP2 RBPJ pseudogene 2 pseudogene pseudogene Approved 9q21.11 09q21.11 "IGKJRBP2|RBPSUHP2" recombining binding protein suppressor of hairless (Drosophila) pseudogene 2 1993-04-23 2007-02-26 2007-02-26 2016-10-05 3517 ENSG00000274181 OTTHUMG00000188564 NG_001151 "8406481|9290259" PGOHUM00000304299 HGNC:5726 HGNC:13686 RBPJP3 RBPJ pseudogene 3 pseudogene pseudogene Approved 9p13 09p13 K2 RBPSUHP3 recombining binding protein suppressor of hairless (Drosophila) pseudogene 3 2000-09-28 2007-02-26 2007-02-26 2009-10-26 58164 L34543 NG_001292 7873751 @@ -27945,7 +27948,7 @@ HGNC:13687 RBPJP4 RBPJ pseudogene 4 pseudogene pseudogene Approved 9q13 09q13 K7 HGNC:37485 RBPJP5 RBPJ pseudogene 5 pseudogene pseudogene Approved 9p12 09p12 2009-10-26 2009-10-26 100288841 ENSG00000232239 OTTHUMG00000058627 BX664615 NG_013296 HGNC:37485 HGNC:37486 RBPJP6 RBPJ pseudogene 6 pseudogene pseudogene Approved 9p11.1 09p11.1 2009-10-26 2016-10-05 643198 ENSG00000227924 OTTHUMG00000013226 BX088651 NG_013297 HGNC:37486 HGNC:37487 RBPJP7 RBPJ pseudogene 7 pseudogene pseudogene Approved 9q13 09q13 2009-10-26 2016-10-05 100133122 ENSG00000234217 OTTHUMG00000013219 BX005266 NG_013298 HGNC:37487 -HGNC:19097 RBPMS RNA binding protein, mRNA processing factor protein-coding gene gene with protein product Approved 8p12 08p12 HERMES RNA binding protein with multiple splicing RNA binding motif containing 725 2003-02-25 2018-01-04 2023-01-20 11030 ENSG00000157110 OTTHUMG00000163845 uc003xie.3 D84110 NM_001008710 "CCDS6077|CCDS34876|CCDS34875" Q93062 "8855282|28003515" MGI:1334446 RGD:1561067 601558 HGNC:19097 "ENST00000397323.9|NM_001008710.3" +HGNC:19097 RBPMS RNA binding protein, mRNA processing factor protein-coding gene gene with protein product Approved 8p12 08p12 HERMES RNA binding protein with multiple splicing RNA binding motif containing 725 2003-02-25 2018-01-04 2023-01-20 11030 ENSG00000157110 OTTHUMG00000163845 uc003xie.3 D84110 NM_001008710 "CCDS34875|CCDS34876|CCDS6077" Q93062 "8855282|28003515" MGI:1334446 RGD:1561067 601558 HGNC:19097 "ENST00000397323.9|NM_001008710.3" HGNC:48721 RBPMS-AS1 RBPMS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p12 08p12 TP53LC06 Antisense RNAs 1987 2013-06-07 2022-07-22 100128750 ENSG00000254109 OTTHUMG00000163930 NR_046205 35609991 RBPMS-AS1 HGNC:48721 HGNC:19098 RBPMS2 RNA binding protein, mRNA processing factor 2 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 RNA binding protein with multiple splicing 2 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2004-09-17 2018-01-04 2023-01-20 348093 ENSG00000166831 OTTHUMG00000172423 uc002anq.4 AY369207 NM_194272 CCDS32271 Q6ZRY4 25064856 MGI:1919223 RGD:1561222 619034 HGNC:19098 "ENST00000300069.5|NM_194272.3" HGNC:50509 RBPMS2P1 RBPMS2 pseudogene 1 pseudogene pseudogene Approved 6q13 06q13 2014-05-15 2014-05-15 100421512 ENSG00000234025 OTTHUMG00000015019 NG_047170 PGOHUM00000243247 HGNC:50509 @@ -27957,14 +27960,14 @@ HGNC:54741 RBX1P2 RBX1 pseudogene 2 pseudogene pseudogene Approved 5q14.1 05q14. HGNC:29434 RC3H1 ring finger and CCCH-type domains 1 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "KIAA2025|roquin|RP5-1198E17.5|RNF198" KIAA2025 protein ring finger and CCCH-type zinc finger domains 1 "Ring finger proteins|Zinc fingers CCCH-type" "58|73" 2005-08-19 2010-09-15 2023-01-20 149041 ENSG00000135870 OTTHUMG00000037275 uc057nkw.1 AK093501 NM_172071 "CCDS72987|CCDS30940" Q5TC82 15917799 MGI:2685397 RGD:1563512 609424 HGNC:29434 "ENST00000367696.7|NM_172071.4" HGNC:54295 RC3H1-DT RC3H1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 LINC02776 long intergenic non-protein coding RNA 2776 Divergent transcripts 1990 2019-05-02 2021-09-01 2021-09-01 2021-09-01 105371620 ENSG00000224977 XR_922293 HGNC:54295 HGNC:41496 RC3H1-IT1 RC3H1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 RC3H1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 106481790 ENSG00000236535 OTTHUMG00000034823 uc057nlb.1 RC3H1-IT1 -HGNC:21461 RC3H2 ring finger and CCCH-type domains 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "FLJ20301|FLJ20713|RNF164" MNAB "membrane associated DNA binding protein|ring finger and CCCH-type zinc finger domains 2" "Ring finger proteins|Zinc fingers CCCH-type|Small nucleolar RNA protein coding host genes" "58|73|1835" 2004-05-20 2007-02-06 2010-09-15 2023-01-20 54542 ENSG00000056586 OTTHUMG00000020632 uc010mwc.1 AK000308 NM_018835 "CCDS48014|CCDS87685|CCDS43874" Q9HBD1 10938276 MGI:2442789 RGD:1304833 615231 HGNC:21461 "ENST00000357244.7|NM_001100588.3" -HGNC:3040 RCAN1 regulator of calcineurin 1 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 DSCR1 Down syndrome critical region gene 1 1997-06-09 2007-06-26 2007-06-26 2023-01-20 1827 ENSG00000159200 OTTHUMG00000086235 uc002yuc.5 NM_001285389 "CCDS74790|CCDS33551|CCDS74788|CCDS42921|CCDS82668|CCDS13637" P53805 8595418 MGI:1890564 RGD:631338 602917 HGNC:3040 "ENST00000313806.9|NM_004414.7" +HGNC:21461 RC3H2 ring finger and CCCH-type domains 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "FLJ20301|FLJ20713|RNF164" MNAB "membrane associated DNA binding protein|ring finger and CCCH-type zinc finger domains 2" "Ring finger proteins|Zinc fingers CCCH-type|Small nucleolar RNA protein coding host genes" "58|73|1835" 2004-05-20 2007-02-06 2010-09-15 2023-01-20 54542 ENSG00000056586 OTTHUMG00000020632 uc010mwc.1 AK000308 NM_018835 "CCDS48014|CCDS43874|CCDS87685" Q9HBD1 10938276 MGI:2442789 RGD:1304833 615231 HGNC:21461 "ENST00000357244.7|NM_001100588.3" +HGNC:3040 RCAN1 regulator of calcineurin 1 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 DSCR1 Down syndrome critical region gene 1 1997-06-09 2007-06-26 2007-06-26 2023-01-20 1827 ENSG00000159200 OTTHUMG00000086235 uc002yuc.5 NM_001285389 "CCDS74790|CCDS74788|CCDS13637|CCDS33551|CCDS42921|CCDS82668" P53805 8595418 MGI:1890564 RGD:631338 602917 HGNC:3040 "ENST00000313806.9|NM_004414.7" HGNC:3041 RCAN2 regulator of calcineurin 2 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 ZAKI-4 DSCR1L1 Down syndrome critical region gene 1-like 1 1999-08-20 2007-06-26 2007-06-26 2023-01-20 10231 ENSG00000172348 OTTHUMG00000014782 uc003oyb.3 D83407 NM_001251973 "CCDS59023|CCDS43469" Q14206 8662924 MGI:1858219 RGD:69198 604876 HGNC:3041 "ENST00000371374.6|NM_001251974.2" HGNC:55661 RCAN2-DT RCAN2 divergent transcript non-coding RNA RNA, long non-coding Approved 6p12.3 06p12.3 Divergent transcripts 1990 2021-06-30 2021-06-30 101926898 ENSG00000236466 NR_125837 -HGNC:3042 RCAN3 RCAN family member 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DSCR1L2 Down syndrome critical region gene 1-like 2 1999-08-26 2007-06-26 2007-06-26 2023-01-20 11123 ENSG00000117602 OTTHUMG00000003298 uc001bjj.4 NM_001251977 "CCDS72730|CCDS57979|CCDS57980|CCDS254|CCDS57982|CCDS57981" Q9UKA8 10756093 MGI:1858220 RGD:1311826 605860 HGNC:3042 "ENST00000374395.9|NM_013441.4" +HGNC:3042 RCAN3 RCAN family member 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DSCR1L2 Down syndrome critical region gene 1-like 2 1999-08-26 2007-06-26 2007-06-26 2023-01-20 11123 ENSG00000117602 OTTHUMG00000003298 uc001bjj.4 NM_001251977 "CCDS72730|CCDS57979|CCDS57980|CCDS57982|CCDS254|CCDS57981" Q9UKA8 10756093 MGI:1858220 RGD:1311826 605860 HGNC:3042 "ENST00000374395.9|NM_013441.4" HGNC:39009 RCAN3AS RCAN3 antisense RNA non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 TCONS_00001428 RCAN3 antisense Long non-coding RNAs with non-systematic symbols 1992 2011-10-19 2017-11-30 2017-11-30 100750325 ENSG00000286061 "HQ317424|HQ317425|HQ419072" NR_045408 "21042787|21961037" HGNC:39009 HGNC:18243 RCBTB1 RCC1 and BTB domain containing protein 1 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "FLJ10716|CLLD7|CLLL7" regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 BTB domain containing 861 2003-05-02 2016-02-12 2023-01-20 55213 ENSG00000136144 OTTHUMG00000016915 uc001vde.1 AF334406 NM_018191 CCDS9418 Q8NDN9 11306461 MGI:1918580 RGD:1308467 607867 477262 HGNC:18243 "ENST00000378302.7|NM_018191.4" HGNC:18243 -HGNC:1914 RCBTB2 RCC1 and BTB domain containing protein 2 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 CHC1L "chromosome condensation 1-like|regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2" BTB domain containing 861 2005-05-09 2016-02-12 2023-01-20 1102 ENSG00000136161 OTTHUMG00000016902 uc001vci.5 AF060219 NM_001268 "CCDS73572|CCDS73571|CCDS73570|CCDS9411" O95199 9806834 MGI:1917200 RGD:735048 603524 HGNC:1914 "ENST00000344532.8|NM_001268.4" +HGNC:1914 RCBTB2 RCC1 and BTB domain containing protein 2 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 CHC1L "chromosome condensation 1-like|regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2" BTB domain containing 861 2005-05-09 2016-02-12 2023-01-20 1102 ENSG00000136161 OTTHUMG00000016902 uc001vci.5 AF060219 NM_001268 "CCDS73572|CCDS9411|CCDS73571|CCDS73570" O95199 9806834 MGI:1917200 RGD:735048 603524 HGNC:1914 "ENST00000344532.8|NM_001268.4" HGNC:45167 RCBTB2P1 RCC1 and BTB domain containing protein 2 pseudogene 1 pseudogene pseudogene Approved 10q23.31 10q23.31 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 pseudogene 1 2013-02-28 2016-02-12 2016-02-12 100130253 ENSG00000235150 OTTHUMG00000018696 NG_022152 PGOHUM00000238577 HGNC:45167 HGNC:1913 RCC1 regulator of chromosome condensation 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 CHC1 chromosome condensation 1 1986-01-01 2005-05-09 2005-05-09 2023-03-15 1104 ENSG00000180198 OTTHUMG00000003645 uc001bqc.2 X12654 NM_001269 CCDS41295 P18754 7851910 MGI:1913989 RGD:1592835 179710 HGNC:1913 "ENST00000683442.1|NM_001381865.2" HGNC:14948 RCC1L RCC1 like protein-coding gene gene with protein product Approved 7q11.23 07q11.23 WBSCR16 Williams-Beuren syndrome chromosome region 16 2001-08-08 2016-05-11 2016-05-11 2023-01-20 81554 ENSG00000274523 OTTHUMG00000130373 uc003ubr.5 AF410455 NM_030798 "CCDS64684|CCDS5577|CCDS64683" Q96I51 "12073013|28608466|32735630" MGI:2137600 RGD:1307558 HGNC:14948 "ENST00000610322.5|NM_030798.5" @@ -27981,8 +27984,8 @@ HGNC:42384 RCC2P8 regulator of chromosome condensation 2 pseudogene 8 pseudogene HGNC:30457 RCCD1 RCC1 domain containing 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 MGC14386 2005-10-21 2005-10-21 2023-01-20 91433 ENSG00000166965 OTTHUMG00000171684 uc002bqk.4 NM_033544 CCDS32333 A6NED2 24981860 MGI:2444156 RGD:1309901 617997 HGNC:30457 "ENST00000394258.7|NM_001017919.2" HGNC:54811 RCCD1-AS1 RCCD1 and UNC45A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Antisense RNAs 1987 2020-01-17 2021-01-20 116435297 ENSG00000258384 NR_170325 32079618 HGNC:13721 RCE1 Ras converting CAAX endopeptidase 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "hRCE1|FACE-2|FACE2" "farnesylated protein-converting enzyme 2|prenyl protein-specific endoprotease 2|RCE1 homolog, prenyl protein protease|CAAX prenyl protease 2" "RCE1A|RCE1B" "RCE1 (S. Cerevisiae) homolog, prenyl protein protease|RCE1 homolog, prenyl protein peptidase (S. cerevisiae)|RCE1 homolog, prenyl protein protease (S. cerevisiae)" 2001-01-10 2001-06-29 2013-10-18 2023-01-20 9986 ENSG00000173653 OTTHUMG00000167098 uc001ojk.2 AF121951 NM_005133 CCDS8151 Q9Y256 "10085068|10373325" MGI:1336895 RGD:1309261 605385 M79.002 objectId:2412 HGNC:13721 "ENST00000309657.8|NM_005133.3" -HGNC:17479 RCHY1 ring finger and CHY zinc finger domain containing 1 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "CHIMP|DKFZp586C1620|PRO1996|RNF199|ARNIP|PIRH2|ZCHY" "androgen-receptor N-terminal-interacting protein|p53-induced protein with a RING-H2 domain|zinc finger, CHY-type" ZNF363 ZNF363 Ring finger proteins 58 2002-02-15 2004-03-30 2016-01-13 2023-03-15 25898 ENSG00000163743 OTTHUMG00000130105 uc003hik.4 AF255666 NM_015436 "CCDS34012|CCDS63990|CCDS63992|CCDS63991|CCDS3567" Q96PM5 12654245 MGI:1915348 RGD:1359180 607680 HGNC:17479 "ENST00000324439.10|NM_015436.4" -HGNC:17687 RCL1 RNA terminal phosphate cyclase like 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "RPCL1|RNAC" RNA terminal phosphate cyclase-like 1 "SSU processome|MicroRNA protein coding host genes" "1484|1691" 2003-12-01 2016-03-24 2023-01-20 10171 ENSG00000120158 OTTHUMG00000019474 uc003zis.4 AJ276894 NM_005772 "CCDS69565|CCDS6456|CCDS75810" Q9Y2P8 MGI:1913275 RGD:1305320 611405 HGNC:17687 "ENST00000381750.9|NM_005772.5" +HGNC:17479 RCHY1 ring finger and CHY zinc finger domain containing 1 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "CHIMP|DKFZp586C1620|PRO1996|RNF199|ARNIP|PIRH2|ZCHY" "androgen-receptor N-terminal-interacting protein|p53-induced protein with a RING-H2 domain|zinc finger, CHY-type" ZNF363 ZNF363 Ring finger proteins 58 2002-02-15 2004-03-30 2016-01-13 2023-03-15 25898 ENSG00000163743 OTTHUMG00000130105 uc003hik.4 AF255666 NM_015436 "CCDS63992|CCDS3567|CCDS63991|CCDS34012|CCDS63990" Q96PM5 12654245 MGI:1915348 RGD:1359180 607680 HGNC:17479 "ENST00000324439.10|NM_015436.4" +HGNC:17687 RCL1 RNA terminal phosphate cyclase like 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "RPCL1|RNAC" RNA terminal phosphate cyclase-like 1 "SSU processome|MicroRNA protein coding host genes" "1484|1691" 2003-12-01 2016-03-24 2023-01-20 10171 ENSG00000120158 OTTHUMG00000019474 uc003zis.4 AJ276894 NM_005772 "CCDS75810|CCDS69565|CCDS6456" Q9Y2P8 MGI:1913275 RGD:1305320 611405 HGNC:17687 "ENST00000381750.9|NM_005772.5" HGNC:9934 RCN1 reticulocalbin 1 protein-coding gene gene with protein product Approved 11p13 11p13 "Rcal|PIG20|FLJ37041" proliferation-inducing gene 20 RCN reticulocalbin 1, EF-hand calcium binding domain CREC family 2042 1997-07-25 2015-11-16 2023-01-20 5954 ENSG00000049449 OTTHUMG00000166227 uc010reb.3 D42073 NM_002901 CCDS7876 Q15293 "9192846|8586628" MGI:104559 RGD:1311292 602735 HGNC:9934 "ENST00000054950.4|NM_002901.4" HGNC:39205 RCN1P1 reticulocalbin 1 pseudogene 1 pseudogene pseudogene Approved 6q14.3 06q14.3 reticulocalbin 1, EF-hand calcium binding domain pseudogene 1 2010-11-23 2015-11-16 2015-11-16 442234 ENSG00000215477 OTTHUMG00000015162 NG_022315 PGOHUM00000243283 HGNC:39205 HGNC:39204 RCN1P2 reticulocalbin 1 pseudogene 2 pseudogene pseudogene Approved 13q14.13 13q14.13 reticulocalbin 1, EF-hand calcium binding domain pseudogene 2 2010-11-23 2015-11-16 2015-11-16 728913 ENSG00000214455 OTTHUMG00000016852 NG_006546 PGOHUM00000256721 HGNC:39204 @@ -27990,7 +27993,7 @@ HGNC:9935 RCN2 reticulocalbin 2 protein-coding gene gene with protein product Ap HGNC:21145 RCN3 reticulocalbin 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 RLP49 reticulocalbin 3, EF-hand calcium binding domain CREC family 2042 2003-05-20 2015-11-16 2023-01-20 57333 ENSG00000142552 OTTHUMG00000183154 uc002poj.4 AY195859 NM_020650 CCDS12771 Q96D15 MGI:1277122 RGD:1359365 619032 HGNC:21145 "ENST00000270645.8|NM_020650.3" HGNC:17441 RCOR1 REST corepressor 1 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "COREST|KIAA0071" RCOR REST corepressor Myb/SANT domain containing 532 2002-01-09 2004-04-16 2004-04-16 2023-01-20 23186 ENSG00000089902 OTTHUMG00000171778 uc001ymb.5 AF155595 NM_015156 CCDS9974 Q9UKL0 10449787 MGI:106340 RGD:7505493 607675 HGNC:17441 "ENST00000262241.7|NM_015156.4" HGNC:27455 RCOR2 REST corepressor 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 Myb/SANT domain containing 532 2004-04-16 2023-01-20 283248 ENSG00000167771 OTTHUMG00000150472 uc001nyc.3 BC010608 NM_173587 CCDS8052 Q8IZ40 "21433225|28049845" MGI:1859854 RGD:1359467 616019 HGNC:27455 "ENST00000301459.5|NM_173587.4" -HGNC:25594 RCOR3 REST corepressor 3 protein-coding gene gene with protein product Approved 1q32.2-q32.3 01q32.2-q32.3 FLJ10876 Myb/SANT domain containing 532 2004-04-16 2023-01-20 55758 ENSG00000117625 OTTHUMG00000036996 uc010psw.3 AK001738 NM_018254 "CCDS31016|CCDS44314|CCDS44313|CCDS44312" Q9P2K3 10718198 MGI:2441920 RGD:1593864 HGNC:25594 "ENST00000419091.7|NM_001136223.3" +HGNC:25594 RCOR3 REST corepressor 3 protein-coding gene gene with protein product Approved 1q32.2-q32.3 01q32.2-q32.3 FLJ10876 Myb/SANT domain containing 532 2004-04-16 2023-01-20 55758 ENSG00000117625 OTTHUMG00000036996 uc010psw.3 AK001738 NM_018254 "CCDS44314|CCDS44312|CCDS31016|CCDS44313" Q9P2K3 10718198 MGI:2441920 RGD:1593864 HGNC:25594 "ENST00000419091.7|NM_001136223.3" HGNC:28310 RCSD1 RCSD domain containing 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "MK2S4|MGC21854|CapZIP" CapZ interacting protein 2005-05-18 2023-01-20 92241 ENSG00000198771 OTTHUMG00000035318 uc001gem.4 BC072399 NM_052862 "CCDS81396|CCDS1263" Q6JBY9 15850461 MGI:2676394 RGD:1304715 610579 HGNC:28310 "ENST00000367854.8|NM_052862.4" HGNC:9937 RCVRN recoverin protein-coding gene gene with protein product Approved 17p13.1 17p13.1 RCV1 EF-hand domain containing 863 1992-11-09 2006-09-26 2023-01-20 5957 ENSG00000109047 OTTHUMG00000130268 uc002gme.2 BC001720 NM_002903 CCDS11151 P35243 "1387789|12507501|1467959|12789533" MGI:97883 RGD:620258 179618 HGNC:9937 "ENST00000226193.6|NM_002903.3" HGNC:19689 RD3 RD3 regulator of GUCY2D protein-coding gene gene with protein product Approved 1q32.3 01q32.3 LCA12 C1orf36 "chromosome 1 open reading frame 36|retinal degeneration 3|retinal degeneration 3, GUCY2D regulator" 2002-11-12 2006-11-13 2020-12-10 2023-01-20 343035 ENSG00000198570 OTTHUMG00000037002 uc001him.2 AY191519 NM_183059 CCDS1498 Q7Z3Z2 "12914764|21928830|30559291" MGI:1921273 RGD:1593897 180040 118246 HGNC:19689 "ENST00000680073.1|NM_001164688.2" HGNC:19689 @@ -28004,45 +28007,45 @@ HGNC:19977 RDH12 retinol dehydrogenase 12 protein-coding gene gene with protein HGNC:19978 RDH13 retinol dehydrogenase 13 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SDR7C3 short chain dehydrogenase/reductase family 7C, member 3 "retinol dehydrogenase 13 (all-trans and 9-cis)|retinol dehydrogenase 13 (all-trans/9-cis)" Short chain dehydrogenase/reductase superfamily 743 2002-12-11 2016-07-14 2023-01-20 112724 ENSG00000160439 OTTHUMG00000180478 uc061cvb.1 NM_138412 "CCDS42627|CCDS54320" Q8NBN7 "12226107|19027726" MGI:1918732 RGD:1304959 1.1.1.- HGNC:19978 "ENST00000415061.8|NM_001145971.2" HGNC:19979 RDH14 retinol dehydrogenase 14 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 "PAN2|SDR7C4" short chain dehydrogenase/reductase family 7C, member 4 "retinol dehydrogenase 14 (all-trans and 9-cis)|retinol dehydrogenase 14 (all-trans/9-cis/11-cis)" Short chain dehydrogenase/reductase superfamily 743 2002-12-11 2017-12-15 2023-01-20 57665 ENSG00000240857 OTTHUMG00000090705 uc002rcx.5 AF237952 NM_020905 CCDS1693 Q9HBH5 "12226107|19027726" MGI:1920402 RGD:1565196 616796 1.1.1.- HGNC:19979 "ENST00000381249.4|NM_020905.4" HGNC:29674 RDH16 retinol dehydrogenase 16 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "RODH-4|SDR9C8" "microsomal NAD+ dependent retinol dehydrogenase 4|short chain dehydrogenase/reductase family 9C, member 8" "retinol dehydrogenase 16 (all-trans and 13-cis)|retinol dehydrogenase 16 (all-trans)" Short chain dehydrogenase/reductase superfamily 743 2005-05-23 2018-02-09 2023-01-20 8608 ENSG00000139547 OTTHUMG00000170895 uc001smi.6 NM_003708 CCDS41797 O75452 "9677409|10329026|19027726" "MGI:1195275|MGI:1201375|MGI:1860517|MGI:2143528|MGI:2678390|MGI:3583955" RGD:735050 620043 HGNC:29674 "ENST00000398138.5|NM_003708.5" -HGNC:19950 RDM1 RAD52 motif containing 1 protein-coding gene gene with protein product Approved 17q12 17q12 MGC33977 RAD52B "RAD52 homolog B (S. cerevisiae)|RAD52 motif 1" RNA binding motif containing 725 2004-02-19 2005-10-20 2014-04-10 2023-01-20 201299 ENSG00000278023 OTTHUMG00000188399 uc032gbd.3 AB080728 NM_145654 "CCDS54108|CCDS54111|CCDS42299|CCDS54110|CCDS59280|CCDS54109|CCDS11301|CCDS82109|CCDS59281" Q8NG50 15611051 MGI:1913849 RGD:1310432 612896 HGNC:19950 "ENST00000620284.5|NM_145654.4" +HGNC:19950 RDM1 RAD52 motif containing 1 protein-coding gene gene with protein product Approved 17q12 17q12 MGC33977 RAD52B "RAD52 homolog B (S. cerevisiae)|RAD52 motif 1" RNA binding motif containing 725 2004-02-19 2005-10-20 2014-04-10 2023-01-20 201299 ENSG00000278023 OTTHUMG00000188399 uc032gbd.3 AB080728 NM_145654 "CCDS54108|CCDS54109|CCDS82109|CCDS54111|CCDS42299|CCDS59281|CCDS59280|CCDS11301|CCDS54110" Q8NG50 15611051 MGI:1913849 RGD:1310432 612896 HGNC:19950 "ENST00000620284.5|NM_145654.4" HGNC:53917 RDM1P1 RDM1 pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 2018-06-06 2018-06-06 112577465 ENSG00000266504 OTTHUMG00000179213 NG_066031 HGNC:53917 HGNC:53918 RDM1P2 RDM1 pseudogene 2 pseudogene pseudogene Approved 17q21.31 17q21.31 2018-06-06 2018-06-06 112577466 ENSG00000266497 OTTHUMG00000179214 NG_068481 HGNC:53919 RDM1P3 RDM1 pseudogene 3 pseudogene pseudogene Approved 17q24.2 17q24.2 2018-06-06 2018-06-06 100418928 ENSG00000267708 OTTHUMG00000180172 NG_026201 PGOHUM00000294212 HGNC:53919 HGNC:53920 RDM1P4 RDM1 pseudogene 4 pseudogene pseudogene Approved 17q24.1 17q24.1 2018-06-06 2018-06-06 112577467 ENSG00000271974 OTTHUMG00000185418 NG_068482 PGOHUM00000294199 HGNC:53921 RDM1P5 RDM1 pseudogene 5 pseudogene pseudogene Approved 17q12 17q12 2018-06-06 2018-06-06 100131347 ENSG00000263818 OTTHUMG00000178956 NR_036551 HGNC:53921 HGNC:27190 RDUR RIG-I dependent antiviral response regulator RNA non-coding RNA RNA, long non-coding Approved 3q12.3 03q12.3 RIG-I-dependent IAV-upregulated noncoding RNA LINC02085 long intergenic non-protein coding RNA 2085 Long non-coding RNAs with non-systematic symbols 1992 2016-12-20 2022-05-11 2022-05-11 2022-05-11 152225 ENSG00000214407 OTTHUMG00000159212 NR_026934 34054851 HGNC:27190 -HGNC:9944 RDX radixin protein-coding gene gene with protein product Approved 11q22.3 11q22.3 DFNB24 deafness, autosomal recessive 24 FERM domain containing 1293 1992-12-08 2023-01-20 5962 ENSG00000137710 OTTHUMG00000166574 uc001pku.4 BC020751 NM_002906 "CCDS58172|CCDS58171|CCDS8343|CCDS58174|CCDS58173" P35241 "8486357|17226784" MGI:97887 RGD:1359472 179410 159272 HGNC:9944 "ENST00000645495.2|NM_002906.4" HGNC:9944 +HGNC:9944 RDX radixin protein-coding gene gene with protein product Approved 11q22.3 11q22.3 DFNB24 deafness, autosomal recessive 24 FERM domain containing 1293 1992-12-08 2023-01-20 5962 ENSG00000137710 OTTHUMG00000166574 uc001pku.4 BC020751 NM_002906 "CCDS58171|CCDS8343|CCDS58174|CCDS58172|CCDS58173" P35241 "8486357|17226784" MGI:97887 RGD:1359472 179410 159272 HGNC:9944 "ENST00000645495.2|NM_002906.4" HGNC:9944 HGNC:9945 RDXP1 RDX pseudogene 1 pseudogene pseudogene Approved 11p15.4 11p15.4 radixin pseudogene 1 1992-12-08 2020-04-24 2020-04-24 643244 ENSG00000255387 OTTHUMG00000165306 NG_021769 PGOHUM00000290351 HGNC:9945 HGNC:9946 RDXP2 radixin pseudogene 2 pseudogene pseudogene Approved Xp21.3 Xp21.3 1992-12-08 2020-04-07 5964 ENSG00000223391 OTTHUMG00000021301 NG_000867 8486357 HGNC:9946 HGNC:54912 RDXP3 RDX pseudogene 3 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-04-24 100132076 ENSG00000238247 NG_022650 HGNC:16879 REC8 REC8 meiotic recombination protein protein-coding gene gene with protein product Approved 14q12 14q12 "Rec8p|kleisin-alpha" REC8L1 "REC8-like 1 (yeast)|REC8 homolog (yeast)" "Cohesin complex|Kleisins" "1060|1451" 2003-09-29 2007-04-03 2013-08-06 2023-01-20 9985 ENSG00000100918 OTTHUMG00000171916 uc032awb.2 AF006264 NM_005132 CCDS41932 O95072 "10207075|15935783|12759374" MGI:1929645 RGD:1309376 608193 HGNC:16879 "ENST00000611366.5|NM_001048205.2" -HGNC:25065 REC114 REC114 meiotic recombination protein protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "LOC283677|FLJ27520|FLJ36860|FLJ44083|CT147" C15orf60 chromosome 15 open reading frame 60 2008-07-25 2014-05-09 2014-05-09 2023-01-20 283677 ENSG00000183324 OTTHUMG00000172549 NM_001042367 "CCDS86474|CCDS45296" Q7Z4M0 20551173 MGI:1920923 RGD:1311874 618421 HGNC:25065 "ENST00000331090.11|NM_001042367.2" +HGNC:25065 REC114 REC114 meiotic recombination protein protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "LOC283677|FLJ27520|FLJ36860|FLJ44083|CT147" C15orf60 chromosome 15 open reading frame 60 2008-07-25 2014-05-09 2014-05-09 2023-01-20 283677 ENSG00000183324 OTTHUMG00000172549 NM_001042367 "CCDS45296|CCDS86474" Q7Z4M0 20551173 MGI:1920923 RGD:1311874 618421 HGNC:25065 "ENST00000331090.11|NM_001042367.2" HGNC:11345 RECK reversion inducing cysteine rich protein with kazal motifs protein-coding gene gene with protein product Approved 9p13.3 09p13.3 hRECK ST15 1998-10-30 2016-01-28 2023-01-20 8434 ENSG00000122707 OTTHUMG00000019898 uc003zyv.4 E13833 NM_001316345 CCDS6597 O95980 9789069 MGI:1855698 RGD:1308845 605227 I01.037 HGNC:11345 "ENST00000377966.4|NM_021111.3" HGNC:9948 RECQL RecQ like helicase protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "RecQ1|RecQL1" DNA helicase Q1-like "RecQ protein-like (DNA helicase Q1-like)|RecQ helicase-like" RecQ like helicases 1049 1994-03-25 2014-03-07 2016-02-05 2023-01-20 5965 ENSG00000004700 OTTHUMG00000169131 uc001rey.4 D37984 NM_002907 CCDS31756 P46063 "7527136|7961977" MGI:103021 RGD:1311071 600537 HGNC:9948 "ENST00000444129.7|NM_002907.4" HGNC:9948 HGNC:9949 RECQL4 RecQ like helicase 4 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 RecQ4 RecQ helicase-like 4 RecQ like helicases 1049 1999-05-06 2014-03-07 2016-02-05 2023-01-20 9401 ENSG00000160957 OTTHUMG00000165178 uc033ccu.2 AB006532 NM_004260 CCDS75804 O94761 "9878247|15960976" MGI:1931028 RGD:1307732 LRG_277|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_277.xml RECQL4 603780 118257 HGNC:9949 "ENST00000617875.6|NM_004260.4" HGNC:9949 -HGNC:9950 RECQL5 RecQ like helicase 5 protein-coding gene gene with protein product Approved 17q25 17q25 "RecQ5|FLJ90603" RecQ protein 5 RecQ like helicases 1049 1999-05-06 2014-03-07 2016-02-05 2023-01-20 9400 ENSG00000108469 OTTHUMG00000179795 uc060jzu.1 AB006533 NM_004259 "CCDS45777|CCDS32735|CCDS42380" O94762 9878247 MGI:2156841 RGD:1310823 603781 HGNC:9950 "ENST00000317905.10|NM_004259.7" HGNC:9950 +HGNC:9950 RECQL5 RecQ like helicase 5 protein-coding gene gene with protein product Approved 17q25 17q25 "RecQ5|FLJ90603" RecQ protein 5 RecQ like helicases 1049 1999-05-06 2014-03-07 2016-02-05 2023-01-20 9400 ENSG00000108469 OTTHUMG00000179795 uc060jzu.1 AB006533 NM_004259 "CCDS32735|CCDS42380|CCDS45777" O94762 9878247 MGI:2156841 RGD:1310823 603781 HGNC:9950 "ENST00000317905.10|NM_004259.7" HGNC:9950 HGNC:53638 REELD1 reeler domain containing 1 protein-coding gene gene with protein product Approved 4q31.22 04q31.22 2017-08-09 2023-01-20 345051 ENSG00000250673 OTTHUMG00000161438 NM_001354631 CCDS87268 A0A1B0GV85 RGD:41160673 HGNC:53638 "ENST00000623665.2|NM_001354631.1" -HGNC:25786 REEP1 receptor accessory protein 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ13110|SPG31|Yip2a" receptor expression enhancing protein 1 C2orf23 chromosome 2 open reading frame 23 Receptor accessory proteins 717 2004-04-27 2006-02-07 2006-02-07 2023-01-20 65055 ENSG00000068615 OTTHUMG00000130205 uc002srh.5 AK023172 NM_022912 "CCDS54373|CCDS92795|CCDS1989|CCDS54372|CCDS54374|CCDS92796|CCDS92797|CCDS92798" Q9H902 "16271481|15550249" MGI:1098827 RGD:1305230 LRG_713|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_713.xml 609139 118260 HGNC:25786 "ENST00000538924.7|NM_001371279.1" HGNC:25786 -HGNC:17975 REEP2 receptor accessory protein 2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "SGC32445|SPG72|Yip2d" C5orf19 chromosome 5 open reading frame 19 Receptor accessory proteins 717 2004-04-27 2006-02-07 2006-02-07 2023-01-20 51308 ENSG00000132563 OTTHUMG00000129205 uc003lcz.5 AK056193 NM_016606 "CCDS4205|CCDS64259" Q9BRK0 "16271481|15550249|24388663" MGI:2385070 RGD:1586980 609347 403398 HGNC:17975 "ENST00000378339.7|NM_001271803.2" HGNC:17975 +HGNC:25786 REEP1 receptor accessory protein 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ13110|SPG31|Yip2a" receptor expression enhancing protein 1 C2orf23 chromosome 2 open reading frame 23 Receptor accessory proteins 717 2004-04-27 2006-02-07 2006-02-07 2023-01-20 65055 ENSG00000068615 OTTHUMG00000130205 uc002srh.5 AK023172 NM_022912 "CCDS92798|CCDS54372|CCDS54373|CCDS1989|CCDS92796|CCDS92797|CCDS54374|CCDS92795" Q9H902 "16271481|15550249" MGI:1098827 RGD:1305230 LRG_713|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_713.xml 609139 118260 HGNC:25786 "ENST00000538924.7|NM_001371279.1" HGNC:25786 +HGNC:17975 REEP2 receptor accessory protein 2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "SGC32445|SPG72|Yip2d" C5orf19 chromosome 5 open reading frame 19 Receptor accessory proteins 717 2004-04-27 2006-02-07 2006-02-07 2023-01-20 51308 ENSG00000132563 OTTHUMG00000129205 uc003lcz.5 AK056193 NM_016606 "CCDS64259|CCDS4205" Q9BRK0 "16271481|15550249|24388663" MGI:2385070 RGD:1586980 609347 403398 HGNC:17975 "ENST00000378339.7|NM_001271803.2" HGNC:17975 HGNC:23711 REEP3 receptor accessory protein 3 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 Yip2b C10orf74 chromosome 10 open reading frame 74 Receptor accessory proteins 717 2004-02-13 2006-02-07 2006-02-07 2023-01-20 221035 ENSG00000165476 OTTHUMG00000018318 uc001jmt.3 BC057832 NM_001001330 CCDS44411 Q6NUK4 "16271481|15550249" MGI:88930 RGD:1560401 609348 HGNC:23711 "ENST00000373758.5|NM_001001330.3" -HGNC:26176 REEP4 receptor accessory protein 4 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "FLJ22246|FLJ22277|PP432|Yip2c" C8orf20 chromosome 8 open reading frame 20 Receptor accessory proteins 717 2004-04-27 2006-02-07 2006-02-07 2023-01-20 80346 ENSG00000168476 OTTHUMG00000131491 uc003xau.2 BC013048 NM_025232 "CCDS83257|CCDS6024|CCDS83258" Q9H6H4 "16271481|15550249" MGI:1919799 RGD:1306561 609349 HGNC:26176 "ENST00000306306.8|NM_025232.4" +HGNC:26176 REEP4 receptor accessory protein 4 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "FLJ22246|FLJ22277|PP432|Yip2c" C8orf20 chromosome 8 open reading frame 20 Receptor accessory proteins 717 2004-04-27 2006-02-07 2006-02-07 2023-01-20 80346 ENSG00000168476 OTTHUMG00000131491 uc003xau.2 BC013048 NM_025232 "CCDS83258|CCDS83257|CCDS6024" Q9H6H4 "16271481|15550249" MGI:1919799 RGD:1306561 609349 HGNC:26176 "ENST00000306306.8|NM_025232.4" HGNC:30077 REEP5 receptor accessory protein 5 protein-coding gene gene with protein product Approved 5q22.2 05q22.2 "DP1|TB2|D5S346|Yip2e|POB16" "deleted in polyposis 1|polyposis locus protein 1|polyposis coli region hypothetical protein DP1" C5orf18 chromosome 5 open reading frame 18 Receptor accessory proteins 717 2004-07-05 2006-02-07 2006-02-07 2023-01-20 7905 ENSG00000129625 OTTHUMG00000128807 uc003kqe.2 BC000232 NM_005669 CCDS4109 Q00765 "16271481|15550249|29431104" MGI:1270152 RGD:1306047 125265 HGNC:30077 "ENST00000379638.9|NM_005669.5" -HGNC:30078 REEP6 receptor accessory protein 6 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "DP1L1|FLJ25383|Yip2f" "polyposis locus protein 1-like 1|deleted in polyposis 1-like 1" C19orf32 chromosome 19 open reading frame 32 Receptor accessory proteins 717 2004-07-05 2006-02-07 2006-02-08 2023-01-20 92840 ENSG00000115255 OTTHUMG00000180072 uc002ltc.4 BC008201 NM_138393 "CCDS12070|CCDS92481" Q96HR9 "16271481|15550249" MGI:1917585 RGD:1309508 609346 HGNC:30078 "ENST00000233596.8|NM_138393.4" HGNC:30078 +HGNC:30078 REEP6 receptor accessory protein 6 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "DP1L1|FLJ25383|Yip2f" "polyposis locus protein 1-like 1|deleted in polyposis 1-like 1" C19orf32 chromosome 19 open reading frame 32 Receptor accessory proteins 717 2004-07-05 2006-02-07 2006-02-08 2023-01-20 92840 ENSG00000115255 OTTHUMG00000180072 uc002ltc.4 BC008201 NM_138393 "CCDS92481|CCDS12070" Q96HR9 "16271481|15550249" MGI:1917585 RGD:1309508 609346 HGNC:30078 "ENST00000233596.8|NM_138393.4" HGNC:30078 HGNC:9951 REG1A regenerating family member 1 alpha protein-coding gene gene with protein product Approved 2p12 02p12 "PSP|PTP|PSPS|PSPS1" "pancreatic stone protein|pancreatic thread protein" REG regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) C-type lectin domain containing 1298 1992-06-05 2015-11-18 2023-01-20 5967 ENSG00000115386 OTTHUMG00000130016 uc002snz.3 NM_002909 CCDS1964 P05451 "2332435|8333731" "MGI:97895|MGI:97896" RGD:3552 167770 I63.002 HGNC:9951 "ENST00000233735.2|NM_002909.5" HGNC:9952 REG1B regenerating family member 1 beta protein-coding gene gene with protein product Approved 2p12 02p12 "REGL|PSPS2|REGH|REGI-BETA" "lithostathine 1 beta|secretory pancreatic stone protein 2" regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein) C-type lectin domain containing 1298 1994-07-04 2015-11-18 2023-01-20 5968 ENSG00000172023 OTTHUMG00000130019 uc002sny.3 NM_006507 CCDS1963 P48304 8110835 "MGI:97895|MGI:97896" 167771 HGNC:9952 "ENST00000305089.8|NM_006507.4" HGNC:9953 REG1CP regenerating family member 1 gamma, pseudogene pseudogene pseudogene Approved 2p12 02p12 RS "REGL|REG1P" "rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)|regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)|regenerating islet-derived 1 pseudogene" 1993-07-12 2015-11-18 2015-11-18 2015-11-18 5969 ENSG00000204787 OTTHUMG00000152978 NR_002714 8333731 HGNC:9953 HGNC:8601 REG3A regenerating family member 3 alpha protein-coding gene gene with protein product Approved 2p12 02p12 "HIP|REG-III|REG3|PBCGF|PAP1" PAP "pancreatitis-associated protein|regenerating islet-derived 3 alpha" C-type lectin domain containing 1298 1993-09-20 2005-02-11 2015-11-18 2023-01-20 5068 ENSG00000172016 OTTHUMG00000130017 uc002sof.3 S51768 NM_002580 CCDS1965 Q06141 8188210 "MGI:109408|MGI:97478" RGD:3254 167805 I63.002 HGNC:8601 "ENST00000305165.3|NM_002580.3" HGNC:29595 REG3G regenerating family member 3 gamma protein-coding gene gene with protein product Approved 2p12 02p12 "UNQ429|LPPM429|PAP1B" regenerating islet-derived 3 gamma C-type lectin domain containing 1298 2005-02-11 2015-11-18 2023-01-20 130120 ENSG00000143954 OTTHUMG00000130018 uc002snw.5 AY359047 NM_198448 "CCDS58714|CCDS1962" Q6UW15 12975309 MGI:109406 RGD:3256 609933 HGNC:29595 "ENST00000272324.10|NM_001008387.3" HGNC:22977 REG4 regenerating family member 4 protein-coding gene gene with protein product Approved 1p12 01p12 "REG-IV|RELP|GISP" "regenerating gene type IV|gastrointestinal secretory protein" regenerating islet-derived family, member 4 C-type lectin domain containing 1298 2003-09-08 2015-11-18 2023-01-20 83998 ENSG00000134193 OTTHUMG00000012175 uc001eif.4 AY007243 NM_032044 "CCDS53354|CCDS906" Q9BYZ8 "11311942|12455032" MGI:1914959 RGD:1303341 609846 I63.002 HGNC:22977 "ENST00000256585.10|NM_032044.4" -HGNC:9954 REL REL proto-oncogene, NF-kB subunit protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "I-Rel|c-Rel|HIVEN86A" v-rel avian reticuloendotheliosis viral oncogene homolog "NF-kappa B complex subunits|IPT domain containing" "1254|1752" 2001-06-22 2016-04-29 2023-01-20 5966 ENSG00000162924 OTTHUMG00000129418 uc002sam.2 M11595 NM_002908 "CCDS1864|CCDS74515" Q04864 1577270 MGI:97897 RGD:1311231 REL 164910 HGNC:9954 "ENST00000394479.4|NM_001291746.2" +HGNC:9954 REL REL proto-oncogene, NF-kB subunit protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "I-Rel|c-Rel|HIVEN86A" v-rel avian reticuloendotheliosis viral oncogene homolog "NF-kappa B complex subunits|IPT domain containing" "1254|1752" 2001-06-22 2016-04-29 2023-01-20 5966 ENSG00000162924 OTTHUMG00000129418 uc002sam.2 M11595 NM_002908 "CCDS74515|CCDS1864" Q04864 1577270 MGI:97897 RGD:1311231 REL 164910 HGNC:9954 "ENST00000394479.4|NM_001291746.2" HGNC:49572 REL-DT REL divergent transcript non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 FLJ16341 LINC01185 long intergenic non-protein coding RNA 1185 Divergent transcripts 1990 2014-01-17 2021-07-29 2021-07-29 2021-07-29 400957 ENSG00000228414 OTTHUMG00000152126 AK122786 NR_033980 LINC01185 HGNC:49572 -HGNC:9955 RELA RELA proto-oncogene, NF-kB subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 p65 NFKB3 "nuclear factor of kappa light polypeptide gene enhancer in B-cells 3|v-rel avian reticuloendotheliosis viral oncogene homolog A" "NF-kappa B complex subunits|IPT domain containing" "1254|1752" 1991-11-14 2016-04-29 2023-01-20 5970 ENSG00000173039 OTTHUMG00000166566 uc001ofg.4 Z22951 NM_021975 "CCDS73322|CCDS31609|CCDS44651" Q04206 2001591 MGI:103290 RGD:727889 164014 395954 HGNC:9955 "ENST00000406246.8|NM_021975.4" HGNC:9955 +HGNC:9955 RELA RELA proto-oncogene, NF-kB subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 p65 NFKB3 "nuclear factor of kappa light polypeptide gene enhancer in B-cells 3|v-rel avian reticuloendotheliosis viral oncogene homolog A" "NF-kappa B complex subunits|IPT domain containing" "1254|1752" 1991-11-14 2016-04-29 2023-01-20 5970 ENSG00000173039 OTTHUMG00000166566 uc001ofg.4 Z22951 NM_021975 "CCDS44651|CCDS31609|CCDS73322" Q04206 2001591 MGI:103290 RGD:727889 164014 395954 HGNC:9955 "ENST00000406246.8|NM_021975.4" HGNC:9955 HGNC:54185 RELA-DT RELA divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Divergent transcripts 1990 2019-02-21 2019-02-21 105369347 ENSG00000285533 NR_183625 HGNC:54185 -HGNC:9956 RELB RELB proto-oncogene, NF-kB subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 REL-B v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3) "NF-kappa B complex subunits|IPT domain containing" "1254|1752" 1995-10-02 2016-04-29 2023-01-20 5971 ENSG00000104856 OTTHUMG00000162116 uc060zvi.1 M83221 NM_001411087 "CCDS92640|CCDS46110" Q01201 1531086 MGI:103289 RGD:2321078 604758 HGNC:9956 "ENST00000221452.13|NM_006509.4" -HGNC:29289 RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "HsT885|HsT3308|FLJ33841" KIAA1468 KIAA1468 Armadillo like helical domain containing 1492 2004-01-04 2018-05-10 2018-05-10 2023-01-20 57614 ENSG00000134444 OTTHUMG00000132780 uc002lil.4 BC011992 NM_020854 "CCDS86676|CCDS11979|CCDS86675" Q9P260 "11973628|29514919" MGI:1922832 RGD:1307235 618001 HGNC:29289 "ENST00000644646.2|NM_001346231.2" +HGNC:9956 RELB RELB proto-oncogene, NF-kB subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 REL-B v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3) "NF-kappa B complex subunits|IPT domain containing" "1254|1752" 1995-10-02 2016-04-29 2023-01-20 5971 ENSG00000104856 OTTHUMG00000162116 uc060zvi.1 M83221 NM_001411087 "CCDS46110|CCDS92640" Q01201 1531086 MGI:103289 RGD:2321078 604758 HGNC:9956 "ENST00000221452.13|NM_006509.4" +HGNC:29289 RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "HsT885|HsT3308|FLJ33841" KIAA1468 KIAA1468 Armadillo like helical domain containing 1492 2004-01-04 2018-05-10 2018-05-10 2023-01-20 57614 ENSG00000134444 OTTHUMG00000132780 uc002lil.4 BC011992 NM_020854 "CCDS11979|CCDS86675|CCDS86676" Q9P260 "11973628|29514919" MGI:1922832 RGD:1307235 618001 HGNC:29289 "ENST00000644646.2|NM_001346231.2" HGNC:27379 RELL1 RELT like 1 protein-coding gene gene with protein product Approved 4p14 04p14 RELT-like 1 RELT family 1406 2007-06-15 2016-01-28 2023-01-20 768211 ENSG00000181826 OTTHUMG00000160389 uc003gsz.3 AK025431 NM_001085400 CCDS43221 Q8IUW5 "16389068|22052202" MGI:2140767 RGD:1307468 611212 HGNC:27379 "ENST00000454158.7|NM_001085400.2" HGNC:26902 RELL2 RELT like 2 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 FLJ90583 C5orf16 "chromosome 5 open reading frame 16|RELT-like 2" RELT family 1406 2004-01-08 2007-06-15 2016-01-28 2023-01-20 285613 ENSG00000164620 OTTHUMG00000129612 uc003lli.4 AK054889 NM_173828 CCDS4265 Q8NC24 16389068 MGI:1918044 RGD:1305276 611213 HGNC:26902 "ENST00000297164.8|NM_173828.5" -HGNC:9957 RELN reelin protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "RL|PRO1598" 1997-07-22 2023-01-20 5649 ENSG00000189056 OTTHUMG00000157247 uc010liz.3 NM_005045 "CCDS34722|CCDS47680" P78509 9049633 MGI:103022 RGD:3553 600514 118272 HGNC:9957 "ENST00000428762.6|NM_005045.4" HGNC:9957 +HGNC:9957 RELN reelin protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "RL|PRO1598" 1997-07-22 2023-01-20 5649 ENSG00000189056 OTTHUMG00000157247 uc010liz.3 NM_005045 "CCDS47680|CCDS34722" P78509 9049633 MGI:103022 RGD:3553 600514 118272 HGNC:9957 "ENST00000428762.6|NM_005045.4" HGNC:9957 HGNC:13764 RELT RELT TNF receptor protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FLJ14993 receptor expressed in lymphoid tissues TNFRSF19L "tumor necrosis factor receptor superfamily, member 19-like|RELT tumor necrosis factor receptor" "Tumor necrosis factor receptor superfamily|RELT family" "782|1406" 2002-02-08 2007-06-14 2019-01-25 2023-01-20 84957 ENSG00000054967 OTTHUMG00000167973 uc001otv.4 AF319553 NM_032871 CCDS8222 Q969Z4 "11313261|16547002|16950202|16389068" MGI:2443373 RGD:1305381 611211 objectId:1892 HGNC:13764 "ENST00000064780.7|NM_152222.2" HGNC:13764 HGNC:15922 REM1 RRAD and GEM like GTPase 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 GES GTPase GES REM RAS (RAD and GEM)-like GTP-binding RGK type GTPase family 1260 2001-06-21 2004-04-16 2016-05-04 2023-01-20 28954 ENSG00000088320 OTTHUMG00000032168 uc002wwa.5 AF152863 NM_014012 CCDS13181 O75628 "10831614|14623965|22076634" MGI:1097696 RGD:1306560 610388 HGNC:15922 "ENST00000201979.3|NM_014012.6" HGNC:20248 REM2 RRAD and GEM like GTPase 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ38964 RAS (RAD and GEM) like GTP binding 2 RGK type GTPase family 1260 2003-01-14 2016-05-04 2023-01-20 161253 ENSG00000139890 OTTHUMG00000170277 uc001whf.2 NM_173527 CCDS45082 Q8IYK8 10727423 MGI:2155260 RGD:69081 616955 HGNC:20248 "ENST00000267396.9|NM_173527.3" @@ -28050,35 +28053,35 @@ HGNC:9958 REN renin protein-coding gene gene with protein product Approved 1q32. HGNC:9959 RENBP renin binding protein protein-coding gene gene with protein product Approved Xq28 Xq28 "RNBP|RBP" "N-acylglucosamine 2-epimerase|GlcNAc 2-epimerase|N-acetyl-D-glucosamine 2-epimerase" renin-binding protein 1992-08-24 2001-11-28 2023-01-20 5973 ENSG00000102032 OTTHUMG00000024224 uc004fjo.3 NM_002910 CCDS14738 P51606 1618798 MGI:105940 RGD:621688 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RENBP 312420 HGNC:9959 "ENST00000393700.8|NM_002910.6" HGNC:54096 RENO1 regulator of early neurogenesis 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Long non-coding RNAs with non-systematic symbols 1992 2020-11-16 2022-04-13 119545628 ENSG00000287431 32969152 MGI:1923627 HGNC:33748 REP15 RAB15 effector protein protein-coding gene gene with protein product Approved 12p11.22 12p11.22 RAB15EP 2009-04-20 2023-01-20 387849 ENSG00000174236 OTTHUMG00000169212 uc001rig.2 BC140921 NM_001029874 CCDS31762 Q6BDI9 16195351 MGI:1913782 RGD:1562899 610848 HGNC:33748 "ENST00000310791.4|NM_001029874.3" -HGNC:17922 REPIN1 replication initiator 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "RIP60|AP4|H_DJ0584D14.12|Zfp464" "replication initiation region protein (60kD)|zinc finger protein AP4|zinc finger protein 464 (RIP60)" ZNF464 zinc finger protein 464 (RIP60) Zinc fingers C2H2-type 28 2003-07-14 2003-08-08 2003-08-07 2023-01-20 29803 ENSG00000214022 OTTHUMG00000158330 uc003whc.2 AF201303 NM_014374 "CCDS47745|CCDS43677" Q9BWE0 10606657 MGI:1889817 RGD:1549707 619039 HGNC:17922 "ENST00000489432.7|NM_001099695.2" +HGNC:17922 REPIN1 replication initiator 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "RIP60|AP4|H_DJ0584D14.12|Zfp464" "replication initiation region protein (60kD)|zinc finger protein AP4|zinc finger protein 464 (RIP60)" ZNF464 zinc finger protein 464 (RIP60) Zinc fingers C2H2-type 28 2003-07-14 2003-08-08 2003-08-07 2023-01-20 29803 ENSG00000214022 OTTHUMG00000158330 uc003whc.2 AF201303 NM_014374 "CCDS43677|CCDS47745" Q9BWE0 10606657 MGI:1889817 RGD:1549707 619039 HGNC:17922 "ENST00000489432.7|NM_001099695.2" HGNC:41201 REPIN1-AS1 REPIN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 Antisense RNAs 1987 2020-04-16 2020-04-16 105375563 ENSG00000240449 OTTHUMG00000158322 NR_183428 -HGNC:15578 REPS1 RALBP1 associated Eps domain containing 1 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 EF-hand domain containing 863 2001-05-29 2023-01-20 85021 ENSG00000135597 OTTHUMG00000015685 uc011edr.4 NM_001128617 "CCDS5193|CCDS47488|CCDS69213|CCDS69212" Q96D71 MGI:1196373 RGD:1307131 614825 HGNC:15578 "ENST00000450536.7|NM_001286611.2" +HGNC:15578 REPS1 RALBP1 associated Eps domain containing 1 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 EF-hand domain containing 863 2001-05-29 2023-01-20 85021 ENSG00000135597 OTTHUMG00000015685 uc011edr.4 NM_001128617 "CCDS47488|CCDS5193|CCDS69213|CCDS69212" Q96D71 MGI:1196373 RGD:1307131 614825 HGNC:15578 "ENST00000450536.7|NM_001286611.2" HGNC:9963 REPS2 RALBP1 associated Eps domain containing 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 POB1 EF-hand domain containing 863 2000-01-18 2023-01-20 9185 ENSG00000169891 OTTHUMG00000021199 uc004cxv.1 AF010233 NM_004726 "CCDS43919|CCDS14180" Q8NFH8 "9422736|9928989" MGI:2663511 RGD:1561642 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/REPS2 300317 HGNC:9963 "ENST00000357277.8|NM_004726.3" HGNC:30309 RER1 retention in endoplasmic reticulum sorting receptor 1 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) 2004-12-17 2013-10-18 2023-01-20 11079 ENSG00000157916 OTTHUMG00000001403 uc001aje.3 AF157324 NM_007033 CCDS41232 O15258 "9309388|17668005" MGI:1915080 RGD:1306324 620048 HGNC:30309 "ENST00000605895.6|NM_007033.5" -HGNC:9965 RERE arginine-glutamic acid dipeptide repeats protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "KIAA0458|ARP|ARG|DNB1|ATN2" atrophin 2 ATN1L arginine-glutamic acid dipeptide (RE) repeats "GATA zinc finger domain containing|Myb/SANT domain containing|Atrophins" "82|532|2003" 2000-05-19 2016-04-05 2023-01-20 473 ENSG00000142599 OTTHUMG00000001765 uc001ape.4 AF016005 NM_001042681 "CCDS95|CCDS41243" Q9P2R6 "10814707|10729226" MGI:2683486 RGD:629475 605226 465808 HGNC:9965 "ENST00000400908.7|NM_001042681.2" HGNC:9965 +HGNC:9965 RERE arginine-glutamic acid dipeptide repeats protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "KIAA0458|ARP|ARG|DNB1|ATN2" atrophin 2 ATN1L arginine-glutamic acid dipeptide (RE) repeats "GATA zinc finger domain containing|Myb/SANT domain containing|Atrophins" "82|532|2003" 2000-05-19 2016-04-05 2023-01-20 473 ENSG00000142599 OTTHUMG00000001765 uc001ape.4 AF016005 NM_001042681 "CCDS41243|CCDS95" Q9P2R6 "10814707|10729226" MGI:2683486 RGD:629475 605226 465808 HGNC:9965 "ENST00000400908.7|NM_001042681.2" HGNC:9965 HGNC:40501 RERE-AS1 RERE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 Antisense RNAs 1987 2018-09-26 2018-09-26 102724552 ENSG00000232912 OTTHUMG00000001772 NR_125999 HGNC:40501 HGNC:38795 REREP1Y arginine-glutamic acid dipeptide repeats pseudogene 1 Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 arginine-glutamic acid dipeptide (RE) repeats pseudogene 1, Y-linked 2010-08-04 2018-04-30 2018-04-30 105377240 ENSG00000225189 OTTHUMG00000044055 XR_938667 PGOHUM00000234037 HGNC:38795 HGNC:38796 REREP2Y arginine-glutamic acid dipeptide repeats pseudogene 2 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 arginine-glutamic acid dipeptide (RE) repeats pseudogene 2, Y-linked 2010-08-04 2018-04-30 2018-04-30 105377243 ENSG00000235014 OTTHUMG00000046126 XR_938673 PGOHUM00000233884 HGNC:38796 HGNC:38797 REREP3 arginine-glutamic acid dipeptide repeats pseudogene 3 pseudogene pseudogene Approved 15q11.2 15q11.2 arginine-glutamic acid dipeptide (RE) repeats pseudogene 3 2010-08-04 2016-06-27 2016-06-27 646396 NR_033735 PGOHUM00000246988 HGNC:38797 -HGNC:15980 RERG RAS like estrogen regulated growth inhibitor protein-coding gene gene with protein product Approved 12p12.3 12p12.3 MGC15754 RAS-like, estrogen-regulated, growth inhibitor RAS type GTPase family 389 2001-09-21 2016-03-11 2023-01-20 85004 ENSG00000134533 OTTHUMG00000168745 uc001rct.4 AF339750 NM_032918 "CCDS53753|CCDS8673" Q96A58 11533059 MGI:2665139 RGD:1562829 612664 HGNC:15980 "ENST00000256953.6|NM_032918.3" +HGNC:15980 RERG RAS like estrogen regulated growth inhibitor protein-coding gene gene with protein product Approved 12p12.3 12p12.3 MGC15754 RAS-like, estrogen-regulated, growth inhibitor RAS type GTPase family 389 2001-09-21 2016-03-11 2023-01-20 85004 ENSG00000134533 OTTHUMG00000168745 uc001rct.4 AF339750 NM_032918 "CCDS8673|CCDS53753" Q96A58 11533059 MGI:2665139 RGD:1562829 612664 HGNC:15980 "ENST00000256953.6|NM_032918.3" HGNC:39990 RERG-AS1 RERG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.3 12p12.3 RERG antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873980 ENSG00000255660 OTTHUMG00000168747 uc031yvj.2 "BF508473|AW197661" NR_046559 RERG-AS1 HGNC:39990 -HGNC:39991 RERG-IT1 RERG intronic transcript 1 non-coding RNA RNA, long non-coding Approved 12p12.3 12p12.3 RERG intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-04-20 2015-02-25 2015-02-25 100874290 ENSG00000256650 OTTHUMG00000168746 uc058lnw.1 RERG-IT1 +HGNC:39991 RERG-IT1 RERG intronic transcript 1 non-coding RNA RNA, long non-coding Approved 12p12.3 12p12.3 RERG intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-04-20 2015-02-25 2015-02-25 100874290 ENSG00000256650 OTTHUMG00000168746 uc058lnw.1 NR_046560 RERG-IT1 HGNC:26213 RERGL RERG like protein-coding gene gene with protein product Approved 12p12.3 12p12.3 FLJ22655 RERG/RAS-like RAS type GTPase family 389 2007-12-07 2016-03-11 2023-01-20 79785 ENSG00000111404 OTTHUMG00000168820 uc031yvw.2 AK026308 NM_024730 "CCDS8679|CCDS66332" Q9H628 24127187 MGI:3642998 RGD:1560090 HGNC:26213 "ENST00000538724.6|NM_001286201.2" HGNC:25559 RESF1 retroelement silencing factor 1 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "FLJ20696|FLJ10652|UTA2-1|GET" gonad expressed transcript "C12orf35|KIAA1551" "chromosome 12 open reading frame 35|KIAA1551" Minor histocompatibility antigens 870 2006-01-23 2018-10-30 2018-10-30 2023-01-20 55196 ENSG00000174718 OTTHUMG00000128501 uc001rks.4 AK001514 NM_018169 CCDS8725 Q9HCM1 "15861396|23079962|29728365" MGI:1914496 RGD:1309621 615621 HGNC:25559 "ENST00000312561.9|NM_018169.4" HGNC:33762 RESP18 regulated endocrine specific protein 18 protein-coding gene gene with protein product Approved 2q35 02q35 "regulated endocrine-specific protein 18 homolog (rat)|regulated endocrine-specific protein 18" 2010-10-05 2015-11-18 2023-01-20 389075 ENSG00000182698 OTTHUMG00000150223 uc002vlc.4 AF437883 NM_001007089 CCDS33382 Q5W5W9 "17951542|7988462" MGI:1098222 RGD:3555 612721 HGNC:33762 "ENST00000333527.6|NM_001007089.4" HGNC:9966 REST RE1 silencing transcription factor protein-coding gene gene with protein product Approved 4q12 04q12 "NRSF|XBR" neuron-restrictive silencer factor DFNA27 "RE1-silencing transcription factor|deafness, autosomal dominant 27" 1996-04-12 2016-02-29 2023-01-20 5978 ENSG00000084093 OTTHUMG00000128770 uc003hch.4 U13879 NM_005612 CCDS3509 Q13127 "7871435|7697725|29961578" MGI:104897 RGD:621069 600571 449638 HGNC:9966 "ENST00000309042.12|NM_005612.5" HGNC:9966 -HGNC:9967 RET ret proto-oncogene protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "PTC|CDHF12|RET51|CDHR16" "cadherin-related family member 16|RET receptor tyrosine kinase|rearranged during transfection" "HSCR1|MEN2A|MTC1|MEN2B" "multiple endocrine neoplasia and medullary thyroid carcinoma 1|Hirschsprung disease 1" "Cadherin related|Receptor tyrosine kinases" "24|321" 1990-07-15 2007-02-16 2023-01-20 5979 ENSG00000165731 OTTHUMG00000018024 uc001jal.4 BC004257 NM_020975 "CCDS53525|CCDS7200" P07949 "2687772|1611909" MGI:97902 RGD:3556 LRG_518|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_518.xml RET 164761 118274 objectId:2185 HGNC:9967 "ENST00000355710.8|NM_020975.6" HGNC:9967 -HGNC:20389 RETN resistin protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FIZZ3|ADSF|RETN1" 2003-02-03 2023-01-20 56729 ENSG00000104918 OTTHUMG00000182503 uc002mhf.2 AF205952 NM_020415 "CCDS92503|CCDS12182" Q9HD89 12050208 MGI:1888506 RGD:628781 605565 HGNC:20389 "ENST00000221515.6|NM_020415.4" HGNC:20389 +HGNC:9967 RET ret proto-oncogene protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "PTC|CDHF12|RET51|CDHR16" "cadherin-related family member 16|RET receptor tyrosine kinase|rearranged during transfection" "HSCR1|MEN2A|MTC1|MEN2B" "multiple endocrine neoplasia and medullary thyroid carcinoma 1|Hirschsprung disease 1" "Cadherin related|Receptor tyrosine kinases" "24|321" 1990-07-15 2007-02-16 2023-01-20 5979 ENSG00000165731 OTTHUMG00000018024 uc001jal.4 BC004257 NM_020975 "CCDS7200|CCDS53525" P07949 "2687772|1611909" MGI:97902 RGD:3556 LRG_518|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_518.xml RET 164761 118274 objectId:2185 HGNC:9967 "ENST00000355710.8|NM_020975.6" HGNC:9967 +HGNC:20389 RETN resistin protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FIZZ3|ADSF|RETN1" 2003-02-03 2023-01-20 56729 ENSG00000104918 OTTHUMG00000182503 uc002mhf.2 AF205952 NM_020415 "CCDS12182|CCDS92503" Q9HD89 12050208 MGI:1888506 RGD:628781 605565 HGNC:20389 "ENST00000221515.6|NM_020415.4" HGNC:20389 HGNC:20388 RETNLB resistin like beta protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "HXCP2|FIZZ2|RELMb" 2003-02-03 2023-01-20 84666 ENSG00000163515 OTTHUMG00000159393 uc003dxh.3 AF290873 NM_032579 CCDS2953 Q9BQ08 "10921885|12574343" MGI:1888504 RGD:1624215 605645 HGNC:20388 "ENST00000295755.7|NM_032579.3" -HGNC:25964 RETREG1 reticulophagy regulator 1 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "FLJ20152|JK1" FAM134B "family with sequence similarity 134, member B|family with sequence similarity 134 member B" 2007-05-01 2017-03-16 2017-03-16 2023-01-20 54463 ENSG00000154153 OTTHUMG00000161788 uc003jfs.4 BC053326 NM_001034850 "CCDS43305|CCDS43304" Q9H6L5 "19838196|24327336" MGI:1913520 RGD:1565003 LRG_363|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_363.xml 613114 218033 HGNC:25964 "ENST00000306320.10|NM_001034850.3" HGNC:25964 +HGNC:25964 RETREG1 reticulophagy regulator 1 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "FLJ20152|JK1" FAM134B "family with sequence similarity 134, member B|family with sequence similarity 134 member B" 2007-05-01 2017-03-16 2017-03-16 2023-01-20 54463 ENSG00000154153 OTTHUMG00000161788 uc003jfs.4 BC053326 NM_001034850 "CCDS43304|CCDS43305" Q9H6L5 "19838196|24327336" MGI:1913520 RGD:1565003 LRG_363|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_363.xml 613114 218033 HGNC:25964 "ENST00000306320.10|NM_001034850.3" HGNC:25964 HGNC:55551 RETREG1-AS1 RETREG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 Antisense RNAs 1987 2021-03-25 2021-03-25 101929524 ENSG00000246214 NR_109946 HGNC:28450 RETREG2 reticulophagy regulator family member 2 protein-coding gene gene with protein product Approved 2q35 02q35 "MGC3035|MAG-2" "C2orf17|FAM134A" "chromosome 2 open reading frame 17|family with sequence similarity 134, member A|family with sequence similarity 134 member A" 2004-01-09 2017-03-16 2017-03-16 2023-01-20 79137 ENSG00000144567 OTTHUMG00000154577 uc002vjw.5 AK074983 NM_024293 CCDS2434 Q8NC44 29097687 MGI:2388278 RGD:1306844 HGNC:28450 "ENST00000430297.7|NM_024293.6" HGNC:27258 RETREG3 reticulophagy regulator family member 3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "DKFZp686B1036|FLJ33806" FAM134C "family with sequence similarity 134, member C|family with sequence similarity 134 member C" 2007-05-01 2017-03-16 2017-03-16 2023-01-20 162427 ENSG00000141699 OTTHUMG00000180275 uc060fkv.1 BC049370 NM_178126 CCDS11432 Q86VR2 34338405 MGI:1915248 RGD:1561189 616498 HGNC:27258 "ENST00000309428.10|NM_178126.4" HGNC:25991 RETSAT retinol saturase protein-coding gene gene with protein product Approved 2p11.2 02p11.2 FLJ20296 all-trans-retinol 13,14-reductase 2006-05-02 2016-05-27 2023-01-20 54884 ENSG00000042445 OTTHUMG00000154611 uc002spd.4 AK075261 NM_017750 CCDS1972 Q6NUM9 "12975309|15358783" MGI:1914692 RGD:628802 617597 1.3.99.23 HGNC:25991 "ENST00000295802.9|NM_017750.4" -HGNC:14060 REV1 REV1 DNA directed polymerase protein-coding gene gene with protein product Approved 2q11.2 02q11.2 REV1L "REV1 (yeast homolog)- like|REV1-like (yeast)|REV1 homolog (S. cerevisiae)|REV1, polymerase (DNA directed)" DNA polymerases 535 2001-01-10 2006-11-07 2019-01-22 2023-01-20 51455 ENSG00000135945 OTTHUMG00000130636 uc002tad.4 AF206019 NM_016316 "CCDS2045|CCDS42722" Q9UBZ9 10536157 MGI:1929074 RGD:1306715 606134 HGNC:14060 "ENST00000258428.8|NM_016316.4" +HGNC:14060 REV1 REV1 DNA directed polymerase protein-coding gene gene with protein product Approved 2q11.2 02q11.2 REV1L "REV1 (yeast homolog)- like|REV1-like (yeast)|REV1 homolog (S. cerevisiae)|REV1, polymerase (DNA directed)" DNA polymerases 535 2001-01-10 2006-11-07 2019-01-22 2023-01-20 51455 ENSG00000135945 OTTHUMG00000130636 uc002tad.4 AF206019 NM_016316 "CCDS42722|CCDS2045" Q9UBZ9 10536157 MGI:1929074 RGD:1306715 606134 HGNC:14060 "ENST00000258428.8|NM_016316.4" HGNC:9968 REV3L REV3 like, DNA directed polymerase zeta catalytic subunit protein-coding gene gene with protein product Approved 6q21 06q21 "POLZ|REV3" polymerase, DNA, zeta "REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta|REV3-like, catalytic subunit of DNA polymerase zeta (yeast)|REV3-like, polymerase (DNA directed), zeta, catalytic subunit" DNA polymerases 535 1998-07-15 2015-11-06 2023-01-20 5980 ENSG00000009413 OTTHUMG00000016318 uc003puy.6 AF058701 NM_002912 "CCDS69177|CCDS5091" O60673 "9618506|9925914" MGI:1337131 RGD:1307087 602776 438089 HGNC:9968 "ENST00000368802.8|NM_001372078.1" HGNC:9968 HGNC:41377 REV3L-IT1 REV3L intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 REV3L intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 106478974 ENSG00000229276 OTTHUMG00000046182 uc063qqz.1 REV3L-IT1 -HGNC:26098 REX1BD required for excision 1-B domain containing protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ20850|FLJ30108|FLJ34606|FLJ37391" C19orf60 chromosome 19 open reading frame 60 2007-03-14 2017-07-20 2017-07-20 2023-01-20 55049 ENSG00000006015 OTTHUMG00000183112 uc002njv.5 AK000857 NM_017967 "CCDS46019|CCDS42524" Q96EN9 "19770013|12697762" MGI:1913712 RGD:1566239 HGNC:26098 "ENST00000358607.11|NM_001100418.2" +HGNC:26098 REX1BD required for excision 1-B domain containing protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ20850|FLJ30108|FLJ34606|FLJ37391" C19orf60 chromosome 19 open reading frame 60 2007-03-14 2017-07-20 2017-07-20 2023-01-20 55049 ENSG00000006015 OTTHUMG00000183112 uc002njv.5 AK000857 NM_017967 "CCDS42524|CCDS46019" Q96EN9 "19770013|12697762" MGI:1913712 RGD:1566239 HGNC:26098 "ENST00000358607.11|NM_001100418.2" HGNC:24616 REXO1 RNA exonuclease 1 homolog protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "EloA-BP1|KIAA1138" elongin A binding protein 1 TCEB3BP1 "transcription elongation factor B polypeptide 3 binding protein 1|REX1, RNA exonuclease 1 homolog (S. cerevisiae)" "Exonucleases|MicroRNA protein coding host genes" "544|1691" 2004-01-16 2005-08-22 2016-06-22 2023-01-20 57455 ENSG00000079313 OTTHUMG00000179991 uc002lua.5 AB032964 NM_020695 CCDS32866 Q8N1G1 10574461 MGI:1914182 RGD:1309872 609614 HGNC:24616 "ENST00000170168.9|NM_020695.4" HGNC:24660 REXO1L1P REXO1 like 1, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 GOR REXO1L1 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1|REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1, pseudogene|REX1, RNA exonuclease 1 homolog-like 1, pseudogene" 2005-08-22 2014-01-10 2017-05-12 2021-10-07 254958 ENSG00000205176 OTTHUMG00000164949 AF495523 NG_053157 Q8IX06 PGOHUM00000303283 HGNC:24660 HGNC:32239 REXO1L2P REXO1 like 2, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2, pseudogene|REX1, RNA exonuclease 1 homolog-like 2, pseudogene" 2005-10-04 2017-05-12 2017-05-12 100288527 ENSG00000276998 OTTHUMG00000188058 NR_003594 PGOHUM00000303286 HGNC:32239 @@ -28093,14 +28096,14 @@ HGNC:44434 REXO1L11P REXO1 like 11, pseudogene pseudogene pseudogene Approved 8q HGNC:44435 REXO1L12P REXO1 like 12, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 12, pseudogene|REX1, RNA exonuclease 1 homolog-like 12, pseudogene" 2012-10-08 2017-05-12 2017-05-12 100289448 ENSG00000276006 OTTHUMG00000184581 NG_022425 PGOHUM00000303611 HGNC:44435 HGNC:17851 REXO2 RNA exonuclease 2 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "DKFZP566E144|SFN|CGI-114" REX2, RNA exonuclease 2 homolog (S. cerevisiae) Exonucleases 544 2005-08-19 2013-06-10 2023-01-20 25996 ENSG00000076043 OTTHUMG00000168271 uc058hnt.1 AF151872 NM_015523 CCDS8371 Q9Y3B8 "10851236|10810093|23741365" MGI:1888981 RGD:1304874 607149 HGNC:17851 "ENST00000265881.10|NM_015523.4" HGNC:17851 HGNC:12820 REXO4 REX4 homolog, 3'-5' exonuclease protein-coding gene gene with protein product Approved 9q34.2 09q34.2 hPMC2 XPMC2H "Xenopus prevents mitotic catatrophe 2 homolog|XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)|REX4, RNA exonuclease 4 homolog (S. cerevisiae)" Exonucleases 544 1997-01-20 2005-08-22 2015-07-10 2023-01-20 57109 ENSG00000148300 OTTHUMG00000020870 uc004cdm.5 AF273304 NM_001279349 "CCDS6969|CCDS65179" Q9GZR2 "9325058|21602889" MGI:2684957 RGD:1306220 602930 HGNC:12820 "ENST00000371942.8|NM_020385.4" -HGNC:24661 REXO5 RNA exonuclease 5 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 NEF-sp 2017-03-29 2023-01-20 81691 ENSG00000005189 OTTHUMG00000131556 AF332193 NM_030941 "CCDS10591|CCDS45437" Q96IC2 "28539487|29045842" MGI:1919402 RGD:1305412 HGNC:24661 "ENST00000261377.11|NM_030941.3" +HGNC:24661 REXO5 RNA exonuclease 5 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 NEF-sp 2017-03-29 2023-01-20 81691 ENSG00000005189 OTTHUMG00000131556 AF332193 NM_030941 "CCDS45437|CCDS10591" Q96IC2 "28539487|29045842" MGI:1919402 RGD:1305412 HGNC:24661 "ENST00000261377.11|NM_030941.3" HGNC:16506 REXO6P RNA exonuclease 6, pseudogene pseudogene pseudogene Approved 9p21.2 09p21.2 "C9orf14|NCRNA00032|LINC00032" "chromosome 9 open reading frame 14|non-protein coding RNA 32|long intergenic non-protein coding RNA 32" 2001-09-10 2023-03-15 2023-03-15 2023-03-15 158035 ENSG00000283945 OTTHUMG00000019711 uc010mjd.2 AF418573 NR_026679 P0C843 LINC00032 HGNC:16506 HGNC:9969 RFC1 replication factor C subunit 1 protein-coding gene gene with protein product Approved 4p14 04p14 "A1|PO-GA|RFC140|MHCBFB" "replication factor C (activator 1) 1 (145kD)|replication factor C (activator 1) 1, 145kDa" AAA ATPases 413 1994-10-14 2015-11-09 2023-01-20 5981 ENSG00000035928 OTTHUMG00000099363 uc003gtx.3 L23320 NM_002913 "CCDS3450|CCDS56329" P35251 8114700 MGI:97891 RGD:620619 102579 HGNC:9969 "ENST00000349703.7|NM_002913.5" HGNC:9969 HGNC:9970 RFC2 replication factor C subunit 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "A1|RFC40" activator 1 "replication factor C (activator 1) 2 (40kD)|replication factor C (activator 1) 2, 40kDa" AAA ATPases 413 1994-10-14 2015-11-09 2023-01-20 5982 ENSG00000049541 OTTHUMG00000023239 uc003uaj.5 NM_181471 "CCDS5567|CCDS5568|CCDS75618" P35250 "1313560|7774928" MGI:1341868 RGD:621198 600404 118283 HGNC:9970 "ENST00000055077.8|NM_181471.3" HGNC:9971 RFC3 replication factor C subunit 3 protein-coding gene gene with protein product Approved 13q13.2 13q13.2 "RFC38|MGC5276" "RFC, 38 kD subunit|A1 38 kDa subunit" "replication factor C (activator 1) 3 (38kD)|replication factor C (activator 1) 3, 38kDa" AAA ATPases 413 1994-10-14 2015-11-09 2023-01-20 5983 ENSG00000133119 OTTHUMG00000016715 uc001uuz.4 NM_002915 "CCDS9352|CCDS45025" P40938 7774928 MGI:1916513 RGD:1306832 600405 HGNC:9971 "ENST00000380071.8|NM_002915.4" HGNC:44531 RFC3P1 replication factor C 3 pseudogene 1 pseudogene pseudogene Approved 3p22.3 03p22.3 replication factor C (activator 1) 3, 38kDa pseudogene 1 2012-11-14 2015-11-16 2015-11-16 100131711 ENSG00000236158 OTTHUMG00000155793 NG_022200 PGOHUM00000237580 HGNC:44531 HGNC:9972 RFC4 replication factor C subunit 4 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "A1|RFC37" "A1 37 kDa subunit|activator 1 37 kDa subunit|RFC 37 kDa subunit" "replication factor C (activator 1) 4 (37kD)|replication factor C (activator 1) 4, 37kDa" AAA ATPases 413 1994-10-14 2015-11-09 2023-01-20 5984 ENSG00000163918 OTTHUMG00000156515 uc011bsc.3 NM_002916 CCDS3283 P35249 7774928 MGI:2146571 RGD:1310142 102577 HGNC:9972 "ENST00000296273.7|NM_002916.5" -HGNC:9973 RFC5 replication factor C subunit 5 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 RFC36 "replication factor C (activator 1) 5 (36.5kD)|replication factor C (activator 1) 5, 36.5kDa" AAA ATPases 413 1994-10-14 2015-11-09 2023-03-15 5985 ENSG00000111445 OTTHUMG00000156438 uc001twq.4 NM_007370 "CCDS9185|CCDS41843" P40937 7774928 MGI:1919401 RGD:1309280 600407 HGNC:9973 "ENST00000454402.7|NM_007370.7" +HGNC:9973 RFC5 replication factor C subunit 5 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 RFC36 "replication factor C (activator 1) 5 (36.5kD)|replication factor C (activator 1) 5, 36.5kDa" AAA ATPases 413 1994-10-14 2015-11-09 2023-03-15 5985 ENSG00000111445 OTTHUMG00000156438 uc001twq.4 NM_007370 "CCDS41843|CCDS9185" P40937 7774928 MGI:1919401 RGD:1309280 600407 HGNC:9973 "ENST00000454402.7|NM_007370.7" HGNC:50450 RFC5P1 replication factor C 5 pseudogene 1 pseudogene pseudogene Approved 9q21.2 09q21.2 replication factor C (activator 1) 5, 36.5kDa pseudogene 1 2014-04-30 2015-11-16 2015-11-16 100421549 ENSG00000233526 OTTHUMG00000020053 NG_023928 PGOHUM00000236650 HGNC:50450 HGNC:29587 RFESD Rieske Fe-S domain containing protein-coding gene gene with protein product Approved 5q15 05q15 Rieske (Fe-S) domain containing 2006-08-24 2016-01-28 2023-01-20 317671 ENSG00000175449 OTTHUMG00000121168 uc003klg.4 BC035110 NM_173362 "CCDS47248|CCDS4075" Q8TAC1 12477932 MGI:2145198 RGD:1308284 HGNC:29587 "ENST00000380005.9|NM_001131066.2" HGNC:39420 RFESDP1 Rieske (Fe-S) domain containing pseudogene 1 pseudogene pseudogene Approved 13q12.12 13q12.12 2011-03-30 2011-03-30 100129167 ENSG00000231650 OTTHUMG00000016554 NG_028978 PGOHUM00000248525 HGNC:39420 @@ -28118,7 +28121,7 @@ HGNC:9974 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase prot HGNC:9977 RFPL1 ret finger protein like 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 RNF78 Ring finger proteins 58 1995-12-20 2016-03-11 2023-01-20 5988 ENSG00000128250 OTTHUMG00000150516 uc003afn.3 AJ010228 NM_021026 CCDS13857 O75677 10508838 MGI:2149590 605968 HGNC:9977 HGNC:9978 RFPL1S RFPL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 "RFPL1-AS|NCRNA00006" non-protein coding RNA 6 RFPL1-AS1 RFPL1 antisense RNA 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 1998-11-04 2013-02-25 2012-08-15 2016-10-05 10740 ENSG00000225465 OTTHUMG00000030476 uc003afm.3 AJ010230 NR_002727 10508838 605972 RFPL1S HGNC:9978 HGNC:9979 RFPL2 ret finger protein like 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 RNF79 Ring finger proteins 58 1998-11-04 2016-03-11 2023-03-15 10739 ENSG00000128253 OTTHUMG00000030374 uc003amg.4 AJ010231 NM_006605 CCDS43009 O75678 10508838 MGI:2149590 605969 HGNC:9979 "ENST00000652607.2|NM_001394555.1" -HGNC:9980 RFPL3 ret finger protein like 3 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 RNF120 Ring finger proteins 58 1998-11-04 2016-03-11 2023-01-20 10738 ENSG00000128276 OTTHUMG00000030290 uc010gwn.3 AJ010232 NM_006604 "CCDS13904|CCDS43011" O75679 "10508838|25107902" MGI:2149590 605970 HGNC:9980 "ENST00000249007.4|NM_001098535.1" +HGNC:9980 RFPL3 ret finger protein like 3 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 RNF120 Ring finger proteins 58 1998-11-04 2016-03-11 2023-01-20 10738 ENSG00000128276 OTTHUMG00000030290 uc010gwn.3 AJ010232 NM_006604 "CCDS43011|CCDS13904" O75679 "10508838|25107902" MGI:2149590 605970 HGNC:9980 "ENST00000249007.4|NM_001098535.1" HGNC:9981 RFPL3S RFPL3 antisense non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 "RFPL3-AS|NCRNA00005" non-protein coding RNA 5 RFPL3-AS1 RFPL3 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 1998-11-04 2013-01-25 2013-01-25 2017-04-19 10737 ENSG00000205853 OTTHUMG00000030295 uc062dnc.1 AJ010233 NR_001450 P0C7P2 10508838 605971 HGNC:9981 HGNC:16449 RFPL4A ret finger protein like 4A protein-coding gene gene with protein product Approved 19q13.42 19q13.42 RNF210 RFPL4 ret finger protein-like 4 Ring finger proteins 58 2001-09-04 2007-01-19 2016-03-11 2023-01-20 342931 ENSG00000223638 OTTHUMG00000165449 uc010yge.3 NM_001145014 CCDS46201 A6NLU0 11850190 MGI:2149590 RGD:1307409 612601 HGNC:16449 "ENST00000434937.3|NM_001145014.2" HGNC:45147 RFPL4AL1 ret finger protein like 4A like 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 RNF210B ret finger protein-like 4A-like 1 Ring finger proteins 58 2013-02-22 2016-03-11 2023-01-20 729974 ENSG00000229292 OTTHUMG00000165450 uc031rnc.2 NM_001277397 CCDS59425 F8VTS6 MGI:2149590 HGNC:45147 "ENST00000341750.5|NM_001277397.2" @@ -28137,26 +28140,26 @@ HGNC:26402 RFTN2 raftlin family member 2 protein-coding gene gene with protein p HGNC:25539 RFWD3 ring finger and WD repeat domain 3 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "FLJ10520|RNF201|FANCW" "Ring finger proteins|WD repeat domain containing|FA complementation groups" "58|362|548" 2005-01-13 2023-01-20 55159 ENSG00000168411 OTTHUMG00000177368 uc002fda.4 AK001382 NM_018124 CCDS32486 Q6PCD5 "21504906|28691929" MGI:2384584 RGD:1305243 614151 HGNC:25539 "ENST00000361070.9|NM_018124.4" HGNC:25539 HGNC:9982 RFX1 regulatory factor X1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 EF-C "trans-acting regulatory factor 1|enhancer factor C|MHC class II regulatory factor RFX" regulatory factor X, 1 (influences HLA class II expression) Regulatory factor X family 1153 1991-11-06 2015-11-30 2023-01-20 5989 ENSG00000132005 OTTHUMG00000181979 uc002mxv.4 NM_002918 CCDS12301 P22670 "1505960|8289803" MGI:105982 RGD:1306574 600006 HGNC:9982 "ENST00000254325.9|NM_002918.5" HGNC:9983 RFX2 regulatory factor X2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ14226 "trans-acting regulatory factor 2|DNA binding protein RFX2|HLA class II regulatory factor RFX2" regulatory factor X, 2 (influences HLA class II expression) Regulatory factor X family 1153 1991-11-06 2015-11-30 2023-01-20 5990 ENSG00000087903 OTTHUMG00000180711 uc002meb.4 NM_000635 "CCDS12158|CCDS12157" P48378 1505960 MGI:106583 RGD:1588579 142765 HGNC:9983 "ENST00000303657.10|NM_000635.4" HGNC:9983 -HGNC:9984 RFX3 regulatory factor X3 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 regulatory factor X, 3 (influences HLA class II expression) Regulatory factor X family 1153 1996-08-16 2015-11-30 2023-01-20 5991 ENSG00000080298 OTTHUMG00000019456 uc010mhd.5 AI811824 NM_002919 "CCDS6449|CCDS6450|CCDS75809" P48380 8289803 MGI:106582 RGD:1307779 601337 HGNC:9984 "ENST00000617270.5|NM_001282116.2" HGNC:9984 +HGNC:9984 RFX3 regulatory factor X3 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 regulatory factor X, 3 (influences HLA class II expression) Regulatory factor X family 1153 1996-08-16 2015-11-30 2023-01-20 5991 ENSG00000080298 OTTHUMG00000019456 uc010mhd.5 AI811824 NM_002919 "CCDS6449|CCDS75809|CCDS6450" P48380 8289803 MGI:106582 RGD:1307779 601337 HGNC:9984 "ENST00000617270.5|NM_001282116.2" HGNC:9984 HGNC:51197 RFX3-DT RFX3 divergent transcript non-coding RNA RNA, long non-coding Approved 9p24.2 09p24.2 RFX3-AS1 RFX3 antisense RNA 1 Divergent transcripts 1990 2014-08-01 2021-07-21 2021-07-21 2021-07-21 101929302 ENSG00000232104 OTTHUMG00000019457 NR_121586 RFX3-AS1 HGNC:51197 -HGNC:9985 RFX4 regulatory factor X4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 regulatory factor X, 4 (influences HLA class II expression) Regulatory factor X family 1153 1997-07-11 2015-11-30 2023-03-15 5992 ENSG00000111783 OTTHUMG00000169173 uc001tlr.4 AB044245 NM_032491 "CCDS55880|CCDS9106|CCDS9108" Q33E94 "8600444|11682486" MGI:1918387 RGD:1562092 603958 HGNC:9985 "ENST00000392842.6|NM_213594.3" +HGNC:9985 RFX4 regulatory factor X4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 regulatory factor X, 4 (influences HLA class II expression) Regulatory factor X family 1153 1997-07-11 2015-11-30 2023-03-15 5992 ENSG00000111783 OTTHUMG00000169173 uc001tlr.4 AB044245 NM_032491 "CCDS55880|CCDS9108|CCDS9106" Q33E94 "8600444|11682486" MGI:1918387 RGD:1562092 603958 HGNC:9985 "ENST00000392842.6|NM_213594.3" HGNC:9986 RFX5 regulatory factor X5 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 regulatory factor X, 5 (influences HLA class II expression) Regulatory factor X family 1153 1997-07-11 2015-11-30 2023-01-20 5993 ENSG00000143390 OTTHUMG00000012495 uc001exw.2 NM_000449 CCDS994 P48382 9401005 MGI:1858421 RGD:1311677 "RFX5base: Mutation registry for MHCII promoter X box regulatory factor 5 deficiency|http://structure.bmc.lu.se/idbase/RFX5base/|LRG_101|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_101.xml" 601863 118286 HGNC:9986 "ENST00000452671.7|NM_001025603.2" HGNC:9986 HGNC:40503 RFX5-AS1 RFX5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 GBAT2 glioblastoma multiforme-associated transcript 2 Antisense RNAs 1987 2020-03-19 2020-03-19 101927886 ENSG00000237976 OTTHUMG00000012496 NR_131972 HGNC:21478 RFX6 regulatory factor X6 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "MGC33442|dJ955L16.1" DNA-binding protein RFX6 RFXDC1 "regulatory factor X domain containing 1|regulatory factor X, 6" Regulatory factor X family 1153 2003-06-16 2008-08-04 2015-11-30 2023-01-20 222546 ENSG00000185002 OTTHUMG00000015449 uc003pxm.4 BC039248 NM_173560 CCDS5113 Q8HWS3 MGI:2445208 RGD:1307491 612659 299156 HGNC:21478 "ENST00000332958.3|NM_173560.4" HGNC:21478 -HGNC:25777 RFX7 regulatory factor X7 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 FLJ12994 RFXDC2 "regulatory factor X domain containing 2|regulatory factor X, 7" Regulatory factor X family 1153 2005-07-25 2008-08-04 2015-11-30 2023-01-20 64864 ENSG00000181827 OTTHUMG00000172508 uc059jng.1 NM_022841 "CCDS92005|CCDS92004|CCDS92003" Q2KHR2 MGI:2442675 RGD:1308795 612660 HGNC:25777 "ENST00000559447.8|NM_022841.7" +HGNC:25777 RFX7 regulatory factor X7 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 FLJ12994 RFXDC2 "regulatory factor X domain containing 2|regulatory factor X, 7" Regulatory factor X family 1153 2005-07-25 2008-08-04 2015-11-30 2023-01-20 64864 ENSG00000181827 OTTHUMG00000172508 uc059jng.1 NM_022841 "CCDS92003|CCDS92005|CCDS92004" Q2KHR2 MGI:2442675 RGD:1308795 612660 HGNC:25777 "ENST00000559447.8|NM_022841.7" HGNC:37253 RFX8 regulatory factor X8 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 FLJ42986 "regulatory factor X, 8|RFX gene family member 8, lacking RFX DNA binding domain|RFX family member 8, lacking RFX DNA binding domain" Regulatory factor X family 1153 2009-10-02 2020-08-19 2023-01-20 731220 ENSG00000196460 OTTHUMG00000130693 uc010yvx.2 AK124976 NM_001145664 CCDS46376 Q6ZV50 29510665 MGI:3588206 RGD:1560724 HGNC:37253 "ENST00000428343.6|NM_001145664.2" HGNC:9987 RFXANK regulatory factor X associated ankyrin containing protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "BLS|RFX-B|ANKRA1|F14150_1|MGC138628" "ankyrin repeat-containing regulatory factor X-associated protein|regulatory factor X subunit B|RFX-Bdelta4|DNA-binding protein RFXANK" regulatory factor X-associated ankyrin-containing protein Ankyrin repeat domain containing 403 1998-11-19 2015-11-30 2023-01-20 8625 ENSG00000064490 OTTHUMG00000169224 uc002nls.4 AF094760 NM_003721 "CCDS12396|CCDS62611|CCDS12395" O14593 "9806546|10072068" MGI:1333865 RGD:1311390 "RFXANKbase: Mutation registry for Ankyrin repeat containing regulatory factor X-associated protein deficiency|http://structure.bmc.lu.se/idbase/RFXANKbase/|LRG_102|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_102.xml" 603200 118288 HGNC:9987 "ENST00000303088.9|NM_003721.4" HGNC:9987 HGNC:9988 RFXAP regulatory factor X associated protein protein-coding gene gene with protein product Approved 13q13.3 13q13.3 regulatory factor X-associated protein 1997-11-05 2015-11-30 2023-01-20 5994 ENSG00000133111 OTTHUMG00000016738 uc001uvu.2 Y12812 NM_000538 CCDS9359 O00287 9118943 MGI:2180854 RGD:1565351 "RFXAPbase: Mutation registry for Regulatory factor X-associated protein deficiency|http://structure.bmc.lu.se/idbase/RFXAPbase/|LRG_103|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_103.xml" 601861 118293 HGNC:9988 "ENST00000255476.3|NM_000538.4" HGNC:9988 HGNC:20369 RGCC regulator of cell cycle protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "bA157L14.2|RGC-32|RGC32" response gene to complement 32 C13orf15 chromosome 13 open reading frame 15 2004-04-16 2012-02-20 2012-02-20 2023-01-20 28984 ENSG00000102760 OTTHUMG00000016796 uc001uyi.3 AF036549 NM_014059 CCDS41880 Q9H4X1 "17146433|19158077|19652095" MGI:1913464 RGD:619721 610077 HGNC:20369 "ENST00000379359.4|NM_014059.3" HGNC:30281 RGL1 ral guanine nucleotide dissociation stimulator like 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 RGL 2004-03-11 2016-03-14 2023-01-20 23179 ENSG00000143344 OTTHUMG00000035328 uc001gqm.4 AF186780 NM_015149 "CCDS72992|CCDS1359" Q9NZL6 "10760592|10231032" MGI:107484 RGD:1308947 605667 HGNC:30281 "ENST00000360851.4|NM_001297671.3" HGNC:9769 RGL2 ral guanine nucleotide dissociation stimulator like 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "KE1.5|HKE1.5" RAB2L RAB2, member RAS oncogene family-like 1996-03-12 2004-06-16 2016-03-14 2023-01-20 5863 ENSG00000237441 OTTHUMG00000031072 uc011jao.3 NM_001243738 CCDS4774 O15211 8976381 MGI:107483 RGD:1302985 602306 HGNC:9769 "ENST00000497454.6|NM_004761.5" -HGNC:30282 RGL3 ral guanine nucleotide dissociation stimulator like 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ32585 2004-03-11 2016-03-14 2023-01-20 57139 ENSG00000205517 OTTHUMG00000172898 uc002mrp.3 BC014426 NM_001161616 "CCDS32910|CCDS54221" Q3MIN7 10869344 MGI:1918996 RGD:1309756 616743 HGNC:30282 "ENST00000380456.8|NM_001035223.4" +HGNC:30282 RGL3 ral guanine nucleotide dissociation stimulator like 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ32585 2004-03-11 2016-03-14 2023-01-20 57139 ENSG00000205517 OTTHUMG00000172898 uc002mrp.3 BC014426 NM_001161616 "CCDS54221|CCDS32910" Q3MIN7 10869344 MGI:1918996 RGD:1309756 616743 HGNC:30282 "ENST00000380456.8|NM_001035223.4" HGNC:31911 RGL4 ral guanine nucleotide dissociation stimulator like 4 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 Rgr RalGDS related oncogene 2008-02-22 2016-03-14 2023-01-20 266747 ENSG00000159496 OTTHUMG00000150711 uc002zxn.4 NM_153615 CCDS13811 Q8IZJ4 "9178890|10851075" 612214 HGNC:31911 "ENST00000290691.10|NM_153615.2" HGNC:56833 RGL4P1 RGL4 pseudogene 1 pseudogene pseudogene Approved 22q12.3 22q12.3 2023-05-15 2023-05-15 100422292 ENSG00000232218 NG_027479 PGOHUM00000297749 HGNC:30308 RGMA repulsive guidance molecule BMP co-receptor a protein-coding gene gene with protein product Approved 15q26.1 15q26.1 RGM "RGM domain family, member A|repulsive guidance molecule family member a" Repulsive guidance molecule family 1587 2004-02-04 2018-01-11 2023-01-20 56963 ENSG00000182175 OTTHUMG00000171781 uc002bss.3 AL390083 NM_020211 "CCDS45357|CCDS53973|CCDS53974" Q96B86 15975920 MGI:2679262 RGD:1311983 607362 470968 objectId:2911 HGNC:30308 "ENST00000329082.12|NM_020211.3" HGNC:26896 RGMB repulsive guidance molecule BMP co-receptor b protein-coding gene gene with protein product Approved 5q15 05q15 "FLJ90406|DRAGON" "RGM domain family, member B|repulsive guidance molecule family member b" Repulsive guidance molecule family 1587 2004-02-04 2018-01-11 2023-01-20 285704 ENSG00000174136 OTTHUMG00000162745 uc003knc.3 AK074887 NM_173670 "CCDS93751|CCDS47251" Q6NW40 19324014 MGI:1916049 RGD:1595392 612687 HGNC:26896 "ENST00000513185.3|NM_001366508.1" HGNC:48666 RGMB-AS1 RGMB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q15 05q15 Antisense RNAs 1987 2013-06-04 2017-07-05 503569 ENSG00000246763 OTTHUMG00000162743 NR_033932 "26055877|26950071" RGMB-AS1 HGNC:48666 -HGNC:9989 RGN regucalcin protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "SMP30|RC" "senescence marker protein-30|gluconolactonase" regucalcin (senescence marker protein-30) 1999-02-03 2013-04-26 2023-01-20 9104 ENSG00000130988 OTTHUMG00000021435 uc004dgz.2 D31815 NM_004683 "CCDS75968|CCDS14272" Q15493 7548213 MGI:108024 RGD:3560 300212 3.1.1.17 HGNC:9989 "ENST00000397180.6|NM_152869.4" +HGNC:9989 RGN regucalcin protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "SMP30|RC" "senescence marker protein-30|gluconolactonase" regucalcin (senescence marker protein-30) 1999-02-03 2013-04-26 2023-01-20 9104 ENSG00000130988 OTTHUMG00000021435 uc004dgz.2 D31815 NM_004683 "CCDS14272|CCDS75968" Q15493 7548213 MGI:108024 RGD:3560 300212 3.1.1.17 HGNC:9989 "ENST00000397180.6|NM_152869.4" HGNC:21965 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 KIAA0258 "KIAA0258|RGP1 retrograde golgi transport homolog (S. cerevisiae)" 2003-11-24 2007-10-18 2015-07-22 2023-01-20 9827 ENSG00000107185 OTTHUMG00000019873 uc011lpf.3 D87447 NM_014785 CCDS47964 Q92546 23091056 MGI:1915956 RGD:1311757 615742 HGNC:21965 "ENST00000378078.5|NM_001080496.3" HGNC:32414 RGPD1 RANBP2 like and GRIP domain containing 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 RGP1 Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2023-03-15 400966 ENSG00000187627 OTTHUMG00000153248 uc021vkh.2 NM_001024457 "CCDS92800|CCDS92799" P0DJD0 "15710750|15815621" MGI:894323 612704 HGNC:32414 "ENST00000641458.2|NM_001382344.1" HGNC:32415 RGPD2 RANBP2 like and GRIP domain containing 2 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "RGP2|RANBP2L2" Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2023-01-20 729857 ENSG00000185304 OTTHUMG00000153276 uc010fhc.3 NM_001078170 CCDS42710 P0DJD1 "15710750|15815621" MGI:894323 612705 HGNC:32415 "ENST00000398146.5|NM_001078170.3" @@ -28164,24 +28167,24 @@ HGNC:32416 RGPD3 RANBP2 like and GRIP domain containing 3 protein-coding gene ge HGNC:32417 RGPD4 RANBP2 like and GRIP domain containing 4 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "RGP4|DKFZp686P0288" Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2023-01-20 285190 ENSG00000196862 OTTHUMG00000153208 uc010ywk.3 BX537861 NM_182588 CCDS46381 Q7Z3J3 "15710750|15815621" MGI:894323 612707 HGNC:32417 "ENST00000408999.4|NM_182588.3" HGNC:49273 RGPD4-AS1 RGPD4 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 Antisense RNAs 1987 2013-10-15 2013-10-15 729121 ENSG00000230651 OTTHUMG00000153314 NR_024439 RGPD4-AS1 HGNC:49273 HGNC:32418 RGPD5 RANBP2 like and GRIP domain containing 5 protein-coding gene gene with protein product Approved 2q13 02q13 "RGP5|BS-63|DKFZp686I1842" Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2023-01-20 84220 ENSG00000015568 OTTHUMG00000130985 uc061mtq.1 U64675 NM_005054 "CCDS2083|CCDS2082" Q99666 "15710750|15815621" MGI:894323 612708 HGNC:32418 "ENST00000016946.8|NM_005054.3" -HGNC:32419 RGPD6 RANBP2 like and GRIP domain containing 6 protein-coding gene gene with protein product Approved 2q13 02q13 RGP6 Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2023-01-20 729540 ENSG00000183054 OTTHUMG00000153196 uc061mvo.1 AK056675 NM_001123363 "CCDS46388|CCDS92839|CCDS42729" Q99666 "15710750|15815621|9480752" MGI:894323 612709 HGNC:32419 "ENST00000329516.8|NM_001123363.4" +HGNC:32419 RGPD6 RANBP2 like and GRIP domain containing 6 protein-coding gene gene with protein product Approved 2q13 02q13 RGP6 Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2023-01-20 729540 ENSG00000183054 OTTHUMG00000153196 uc061mvo.1 AK056675 NM_001123363 "CCDS42729|CCDS46388|CCDS92839" Q99666 "15710750|15815621|9480752" MGI:894323 612709 HGNC:32419 "ENST00000329516.8|NM_001123363.4" HGNC:9849 RGPD8 RANBP2 like and GRIP domain containing 8 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 RanBP2alpha RANBP2L1 RAN binding protein 2-like 1 Tetratricopeptide repeat domain containing 769 1998-05-01 2005-12-20 2019-02-18 2023-01-20 727851 ENSG00000169629 OTTHUMG00000153289 uc002ths.3 AF012086 NM_001164463 CCDS46394 O14715 9480752 MGI:894323 602752 HGNC:9849 "ENST00000302558.8|NM_001164463.1" -HGNC:9990 RGR retinal G protein coupled receptor protein-coding gene gene with protein product Approved 10q23.1 10q23.1 RP44 RGR-opsin Opsin receptors 215 1995-11-28 2023-01-20 5995 ENSG00000148604 OTTHUMG00000018636 uc001kdd.2 BC011349 NM_002921 "CCDS41543|CCDS7374|CCDS91288" P47804 8641686 MGI:1929473 RGD:1309174 Mutations of the RPE-Retinal G-Protein-Coupled Receptor|http://www.retina-international.org/files/sci-news/rgrmut.htm 600342 118295 HGNC:9990 "ENST00000652092.2|NM_001012720.2" HGNC:9990 +HGNC:9990 RGR retinal G protein coupled receptor protein-coding gene gene with protein product Approved 10q23.1 10q23.1 RP44 RGR-opsin Opsin receptors 215 1995-11-28 2023-01-20 5995 ENSG00000148604 OTTHUMG00000018636 uc001kdd.2 BC011349 NM_002921 "CCDS41543|CCDS91288|CCDS7374" P47804 8641686 MGI:1929473 RGD:1309174 Mutations of the RPE-Retinal G-Protein-Coupled Receptor|http://www.retina-international.org/files/sci-news/rgrmut.htm 600342 118295 HGNC:9990 "ENST00000652092.2|NM_001012720.2" HGNC:9990 HGNC:9991 RGS1 regulator of G protein signaling 1 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "1R20|IR20|BL34" IER1 "regulator of G-protein signalling 1|regulator of G-protein signaling 1" Regulators of G-protein signaling 720 1995-11-27 2017-04-13 2023-01-20 5996 ENSG00000090104 OTTHUMG00000035598 uc001gsi.2 AF493925 NM_002922 CCDS1375 Q08116 "8241276|8602223" MGI:1354694 RGD:3561 600323 objectId:2804 HGNC:9991 "ENST00000367459.8|NM_002922.4" HGNC:9998 RGS2 regulator of G protein signaling 2 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 G0S8 "regulator of G-protein signalling 2, 24kD|regulator of G-protein signalling 2, 24kDa|regulator of G-protein signaling 2, 24kDa|regulator of G-protein signaling 2" "Receptor ligands|Regulators of G-protein signaling" "542|720" 1994-11-01 2017-04-13 2023-01-20 5997 ENSG00000116741 OTTHUMG00000035600 uc001gsl.4 L13463 NM_002923 CCDS1377 P41220 8179820 MGI:1098271 RGD:621665 600861 470972 objectId:2808 HGNC:9998 "ENST00000235382.7|NM_002923.4" HGNC:49018 RGS2-AS1 RSG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q31.2 01q31.2 LINC01032 long intergenic non-protein coding RNA 1032 Antisense RNAs 1987 2013-08-08 2020-01-24 2020-01-24 2020-01-24 102724954 OTTHUMG00000041137 AW104394 NR_126003 LINC01032 HGNC:49018 -HGNC:9999 RGS3 regulator of G protein signaling 3 protein-coding gene gene with protein product Approved 9q32 09q32 "C2PA|FLJ20370|PDZ-RGS3" "regulator of G-protein signalling 3|regulator of G-protein signaling 3" "Regulators of G-protein signaling|C2 domain containing|PDZ domain containing" "720|823|1220" 1997-06-09 2017-04-13 2023-03-15 5998 ENSG00000138835 OTTHUMG00000021048 uc004bhq.5 AF006610 NM_017790 "CCDS65111|CCDS6798|CCDS35113|CCDS6797|CCDS35114|CCDS94464" P49796 "8602223|11034339" MGI:1354734 RGD:3566 602189 objectId:2810 HGNC:9999 "ENST00000695401.1|NM_001394167.1" -HGNC:10000 RGS4 regulator of G protein signaling 4 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 SCZD9 "regulator of G-protein signalling 4|schizophrenia disorder 9|regulator of G-protein signaling 4" Regulators of G-protein signaling 720 1997-06-09 2017-04-13 2023-01-20 5999 ENSG00000117152 OTTHUMG00000034417 uc009wuy.4 BC051869 NM_005613 "CCDS1243|CCDS44270|CCDS44271|CCDS44272" P49798 "8602223|8756726" MGI:108409 RGD:3567 602516 objectId:2811 HGNC:10000 "ENST00000367909.11|NM_005613.6" -HGNC:10001 RGS5 regulator of G protein signaling 5 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "regulator of G-protein signalling 5|regulator of G-protein signaling 5" Regulators of G-protein signaling 720 1998-10-12 2017-04-13 2023-01-20 8490 ENSG00000143248 OTTHUMG00000034441 uc001gcn.4 AF030108 NM_003617 "CCDS58041|CCDS55652|CCDS1244" O15539 9747037 MGI:1098434 RGD:3568 603276 objectId:2812 HGNC:10001 "ENST00000313961.10|NM_003617.4" HGNC:10001 +HGNC:9999 RGS3 regulator of G protein signaling 3 protein-coding gene gene with protein product Approved 9q32 09q32 "C2PA|FLJ20370|PDZ-RGS3" "regulator of G-protein signalling 3|regulator of G-protein signaling 3" "Regulators of G-protein signaling|C2 domain containing|PDZ domain containing" "720|823|1220" 1997-06-09 2017-04-13 2023-03-15 5998 ENSG00000138835 OTTHUMG00000021048 uc004bhq.5 AF006610 NM_017790 "CCDS6798|CCDS65111|CCDS94464|CCDS35114|CCDS35113|CCDS6797" P49796 "8602223|11034339" MGI:1354734 RGD:3566 602189 objectId:2810 HGNC:9999 "ENST00000695401.1|NM_001394167.1" +HGNC:10000 RGS4 regulator of G protein signaling 4 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 SCZD9 "regulator of G-protein signalling 4|schizophrenia disorder 9|regulator of G-protein signaling 4" Regulators of G-protein signaling 720 1997-06-09 2017-04-13 2023-01-20 5999 ENSG00000117152 OTTHUMG00000034417 uc009wuy.4 BC051869 NM_005613 "CCDS44271|CCDS1243|CCDS44272|CCDS44270" P49798 "8602223|8756726" MGI:108409 RGD:3567 602516 objectId:2811 HGNC:10000 "ENST00000367909.11|NM_005613.6" +HGNC:10001 RGS5 regulator of G protein signaling 5 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "regulator of G-protein signalling 5|regulator of G-protein signaling 5" Regulators of G-protein signaling 720 1998-10-12 2017-04-13 2023-01-20 8490 ENSG00000143248 OTTHUMG00000034441 uc001gcn.4 AF030108 NM_003617 "CCDS1244|CCDS55652|CCDS58041" O15539 9747037 MGI:1098434 RGD:3568 603276 objectId:2812 HGNC:10001 "ENST00000313961.10|NM_003617.4" HGNC:10001 HGNC:40504 RGS5-AS1 RGS5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Antisense RNAs 1987 2020-03-19 2020-03-19 101928404 ENSG00000232892 OTTHUMG00000033126 NR_110699 -HGNC:10002 RGS6 regulator of G protein signaling 6 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "regulator of G-protein signalling 6|regulator of G-protein signaling 6" "Regulators of G-protein signaling|MicroRNA protein coding host genes" "720|1691" 1999-05-17 2017-04-13 2023-01-20 9628 ENSG00000182732 OTTHUMG00000171340 uc001xmx.5 AF073920 NM_001204416 "CCDS91897|CCDS55924|CCDS9808|CCDS73655" P49758 "10083744|14734556" MGI:1354730 RGD:3569 603894 objectId:2815 HGNC:10002 "ENST00000553525.6|NM_001204424.2" -HGNC:10003 RGS7 regulator of G protein signaling 7 protein-coding gene gene with protein product Approved 1q43 01q43 "regulator of G-protein signalling 7|regulator of G-protein signaling 7" Regulators of G-protein signaling 720 1997-03-19 2017-04-13 2023-01-20 6000 ENSG00000182901 OTTHUMG00000040107 uc001hyv.4 BC022009 NM_002924 "CCDS60458|CCDS91181|CCDS60457|CCDS91179|CCDS91180|CCDS60459|CCDS91177|CCDS31071|CCDS91176|CCDS91178" P49802 8548815 MGI:1346089 RGD:3570 602517 objectId:2816 HGNC:10003 "ENST00000440928.6|NM_001364886.1" +HGNC:10002 RGS6 regulator of G protein signaling 6 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "regulator of G-protein signalling 6|regulator of G-protein signaling 6" "Regulators of G-protein signaling|MicroRNA protein coding host genes" "720|1691" 1999-05-17 2017-04-13 2023-01-20 9628 ENSG00000182732 OTTHUMG00000171340 uc001xmx.5 AF073920 NM_001204416 "CCDS55924|CCDS73655|CCDS91897|CCDS9808" P49758 "10083744|14734556" MGI:1354730 RGD:3569 603894 objectId:2815 HGNC:10002 "ENST00000553525.6|NM_001204424.2" +HGNC:10003 RGS7 regulator of G protein signaling 7 protein-coding gene gene with protein product Approved 1q43 01q43 "regulator of G-protein signalling 7|regulator of G-protein signaling 7" Regulators of G-protein signaling 720 1997-03-19 2017-04-13 2023-01-20 6000 ENSG00000182901 OTTHUMG00000040107 uc001hyv.4 BC022009 NM_002924 "CCDS91177|CCDS91176|CCDS91179|CCDS60457|CCDS91180|CCDS60459|CCDS60458|CCDS91181|CCDS31071|CCDS91178" P49802 8548815 MGI:1346089 RGD:3570 602517 objectId:2816 HGNC:10003 "ENST00000440928.6|NM_001364886.1" HGNC:23271 RGS7BP regulator of G protein signaling 7 binding protein protein-coding gene gene with protein product Approved 5q12.3 05q12.3 R7BP "regulator of G-protein signalling 7 binding protein|regulator of G-protein signaling 7 binding protein" 2006-10-05 2017-04-13 2023-01-20 401190 ENSG00000186479 OTTHUMG00000162293 uc003jtj.5 BX640900 NM_001029875 CCDS34170 Q6MZT1 15632198 MGI:106334 RGD:1309360 610890 HGNC:23271 "ENST00000334025.3|NM_001029875.3" HGNC:16810 RGS8 regulator of G protein signaling 8 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "MGC119067|MGC119068|MGC119069" "regulator of G-protein signalling 8|regulator of G-protein signaling 8" Regulators of G-protein signaling 720 2001-10-08 2017-04-13 2023-01-20 85397 ENSG00000135824 OTTHUMG00000035219 uc001gpn.2 AF297015 NM_033345 "CCDS41443|CCDS1349" P57771 11318611 MGI:108408 RGD:3571 607189 objectId:2813 HGNC:16810 "ENST00000515211.2|NM_001102450.3" HGNC:10004 RGS9 regulator of G protein signaling 9 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 "PERRS|RGS9L|MGC26458|MGC111763" "regulator of G protein signalling 9|regulator of G protein signalling 9L|regulator of G-protein signaling 9L" "regulator of G-protein signalling 9|regulator of G-protein signaling 9" Regulators of G-protein signaling 720 1998-12-15 2017-04-13 2023-01-20 8787 ENSG00000108370 OTTHUMG00000179349 uc002jfe.4 AF071476 NM_003835 "CCDS45764|CCDS42373" O75916 9765512 MGI:1338824 RGD:3572 604067 118299 objectId:2817 HGNC:10004 "ENST00000262406.10|NM_003835.4" HGNC:10004 HGNC:30304 RGS9BP regulator of G protein signaling 9 binding protein protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "FLJ45744|PERRS|R9AP" "regulator of G protein signalling 9 binding protein|regulator of G-protein signaling 9 binding protein" 2006-10-05 2017-04-13 2023-01-20 388531 ENSG00000186326 OTTHUMG00000180227 uc002ntp.1 AW302149 NM_207391 CCDS12424 Q6ZS82 "12119397|8889548" MGI:2384418 RGD:1561747 607814 118301 HGNC:30304 "ENST00000334176.4|NM_207391.3" HGNC:30304 -HGNC:9992 RGS10 regulator of G protein signaling 10 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "regulator of G-protein signalling 10|regulator of G-protein signaling 10" Regulators of G-protein signaling 720 1998-03-17 2017-04-13 2023-01-20 6001 ENSG00000148908 OTTHUMG00000019150 uc001leg.4 AF045229 NM_002925 "CCDS31294|CCDS41572" O43665 8774883 MGI:1915115 RGD:3562 602856 objectId:2818 HGNC:9992 "ENST00000369103.3|NM_001005339.2" -HGNC:9993 RGS11 regulator of G protein signaling 11 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "regulator of G-protein signalling 11|regulator of G-protein signaling 11" Regulators of G-protein signaling 720 1998-12-15 2017-04-13 2023-01-20 8786 ENSG00000076344 OTTHUMG00000064893 uc002cgj.3 AF035153 NM_001286485 "CCDS10403|CCDS66884|CCDS42088" O94810 9789084 MGI:1354739 RGD:3563 603895 objectId:2814 HGNC:9993 "ENST00000397770.8|NM_183337.3" +HGNC:9992 RGS10 regulator of G protein signaling 10 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "regulator of G-protein signalling 10|regulator of G-protein signaling 10" Regulators of G-protein signaling 720 1998-03-17 2017-04-13 2023-01-20 6001 ENSG00000148908 OTTHUMG00000019150 uc001leg.4 AF045229 NM_002925 "CCDS41572|CCDS31294" O43665 8774883 MGI:1915115 RGD:3562 602856 objectId:2818 HGNC:9992 "ENST00000369103.3|NM_001005339.2" +HGNC:9993 RGS11 regulator of G protein signaling 11 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "regulator of G-protein signalling 11|regulator of G-protein signaling 11" Regulators of G-protein signaling 720 1998-12-15 2017-04-13 2023-01-20 8786 ENSG00000076344 OTTHUMG00000064893 uc002cgj.3 AF035153 NM_001286485 "CCDS10403|CCDS42088|CCDS66884" O94810 9789084 MGI:1354739 RGD:3563 603895 objectId:2814 HGNC:9993 "ENST00000397770.8|NM_183337.3" HGNC:9994 RGS12 regulator of G protein signaling 12 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "regulator of G-protein signalling 12|regulator of G-protein signaling 12" "Regulators of G-protein signaling|PDZ domain containing" "720|1220" 1998-07-24 2017-04-13 2023-01-20 6002 ENSG00000159788 OTTHUMG00000090277 uc003ggw.4 AF035152 NM_002926 "CCDS3366|CCDS3367|CCDS3368" O14924 9651375 MGI:1918979 RGD:3564 602512 objectId:2819 HGNC:9994 "ENST00000336727.8|NM_001394154.1" HGNC:9995 RGS13 regulator of G protein signaling 13 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "regulator of G-protein signalling 13|regulator of G-protein signaling 13" Regulators of G-protein signaling 720 1998-04-01 2017-04-13 2023-01-20 6003 ENSG00000127074 OTTHUMG00000035601 uc001gsk.4 AF030107 NM_002927 CCDS1376 O14921 11875076 MGI:2180585 RGD:1562103 607190 objectId:2805 HGNC:9995 "ENST00000391995.7|NM_002927.5" HGNC:9996 RGS14 regulator of G protein signaling 14 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "regulator of G-protein signalling 14|regulator of G-protein signaling 14" Regulators of G-protein signaling 720 1999-07-06 2017-04-13 2023-01-20 10636 ENSG00000169220 OTTHUMG00000163324 uc003mgf.4 AF037195 NM_006480 CCDS43405 O43566 MGI:1859709 RGD:620003 602513 objectId:2820 HGNC:9996 "ENST00000408923.8|NM_006480.5" @@ -28190,13 +28193,13 @@ HGNC:14088 RGS17 regulator of G protein signaling 17 protein-coding gene gene wi HGNC:39729 RGS17P1 regulator of G protein signaling 17 pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 regulator of G-protein signaling 17 pseudogene 1 2011-03-24 2017-04-13 2017-04-13 100128628 ENSG00000229473 OTTHUMG00000016782 NG_011456 PGOHUM00000248378 HGNC:39729 HGNC:14261 RGS18 regulator of G protein signaling 18 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 RGS13 "regulator of G-protein signalling 18|regulator of G-protein signaling 18" Regulators of G-protein signaling 720 2000-12-15 2017-04-13 2023-01-20 64407 ENSG00000150681 OTTHUMG00000035592 uc001gsg.4 AF268036 NM_130782 CCDS1374 Q9NS28 11042171 MGI:1927498 RGD:1306522 607192 470970 objectId:2807 HGNC:14261 "ENST00000367460.4|NM_130782.3" HGNC:13735 RGS19 regulator of G protein signaling 19 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "GAIP|RGSGAIP" "regulator of G-protein signalling 19|regulator of G-protein signaling 19" "Regulators of G-protein signaling|MicroRNA protein coding host genes" "720|1691" 2001-01-10 2017-04-13 2023-01-20 10287 ENSG00000171700 OTTHUMG00000033024 uc002yib.5 X91809 NM_005873 CCDS13555 P49795 8524874 MGI:1915153 RGD:629471 605071 objectId:2802 HGNC:13735 "ENST00000395042.2|NM_005873.3" -HGNC:14600 RGS20 regulator of G protein signaling 20 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "RGSZ1|ZGAP1" "regulator of G-protein signalling 20|regulator of G-protein signaling 20" Regulators of G-protein signaling 720 2001-02-09 2017-04-13 2023-01-20 8601 ENSG00000147509 OTTHUMG00000164750 uc003xrp.5 AF074979 NM_001286673 "CCDS6156|CCDS69482|CCDS6155" O76081 "9748279|9748280" MGI:1929866 RGD:1586146 607193 objectId:2803 HGNC:14600 "ENST00000297313.8|NM_170587.4" +HGNC:14600 RGS20 regulator of G protein signaling 20 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "RGSZ1|ZGAP1" "regulator of G-protein signalling 20|regulator of G-protein signaling 20" Regulators of G-protein signaling 720 2001-02-09 2017-04-13 2023-01-20 8601 ENSG00000147509 OTTHUMG00000164750 uc003xrp.5 AF074979 NM_001286673 "CCDS6155|CCDS6156|CCDS69482" O76081 "9748279|9748280" MGI:1929866 RGD:1586146 607193 objectId:2803 HGNC:14600 "ENST00000297313.8|NM_170587.4" HGNC:26839 RGS21 regulator of G protein signaling 21 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "regulator of G-protein signalling 21|regulator of G-protein signaling 21" Regulators of G-protein signaling 720 2004-06-28 2017-04-13 2023-01-20 431704 ENSG00000253148 OTTHUMG00000035594 uc001gsh.4 AY643711 NM_001039152 CCDS41448 Q2M5E4 15066150 MGI:3645243 RGD:2320695 612407 objectId:2809 HGNC:26839 "ENST00000417209.2|NM_001039152.3" HGNC:24499 RGS22 regulator of G protein signaling 22 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "DKFZP434I092|PRTD-NY2|CT145" "regulator of G-protein signalling 22|regulator of G-protein signaling 22" "Regulators of G-protein signaling|MicroRNA protein coding host genes" "720|1691" 2005-02-23 2017-04-13 2023-01-20 26166 ENSG00000132554 OTTHUMG00000164802 uc003yjb.2 AY009106 NM_015668 "CCDS69521|CCDS43758|CCDS75775" Q8NE09 MGI:3613651 RGD:1565493 615650 HGNC:24499 "ENST00000360863.11|NM_015668.5" HGNC:18636 RGSL1 regulator of G protein signaling like 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 RGSL2 "regulator of G-protein signalling like 1|regulator of G-protein signaling like 2|regulator of G-protein signalling like 2|regulator of G-protein signaling like 1" 2003-12-05 2017-04-13 2023-03-15 353299 ENSG00000121446 OTTHUMG00000035217 uc009wxw.5 AF510428 NM_181572 CCDS58049 A5PLK6 12801632 MGI:2685048 RGD:1584051 611012 HGNC:18636 "ENST00000294854.13|NM_001137669.2" HGNC:10006 RHAG Rh associated glycoprotein protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "RH50A|CD241|SLC42A1" Ammonium transporter Rh type A Rhesus blood group-associated glycoprotein "Blood group antigens|CD molecules|Solute carrier family 42" "454|471|2192" 1993-11-30 2017-09-12 2023-01-20 6005 ENSG00000112077 OTTHUMG00000016377 uc003ozk.5 NM_000324 CCDS4927 Q02094 "22012326|9479501" MGI:1202713 RGD:61871 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_822|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_822.xml" 180297 SLC42A1 118307 objectId:1198 CD241 HGNC:10006 "ENST00000371175.10|NM_000324.3" HGNC:10006 HGNC:23081 RHBDD1 rhomboid domain containing 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 DKFZp547E052 Rhomboid family 926 2006-02-22 2023-01-20 84236 ENSG00000144468 OTTHUMG00000133178 uc002voi.4 AK074258 NM_001167608 CCDS2464 Q8TEB9 12838346 MGI:1924117 RGD:1306477 617515 S54.008 HGNC:23081 "ENST00000392062.7|NM_001167608.3" -HGNC:23082 RHBDD2 rhomboid domain containing 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 NPD007 RHBDL7 rhomboid, veinlet-like 7 (Drosophila) Rhomboid family 926 2004-10-20 2006-02-22 2006-02-22 2023-01-20 57414 ENSG00000005486 OTTHUMG00000156435 uc064emv.1 AF226732 NM_020684 "CCDS43603|CCDS43602" Q6NTF9 12838346 MGI:1915612 RGD:1308231 615203 S54.955 HGNC:23082 "ENST00000006777.11|NM_001040456.3" +HGNC:23082 RHBDD2 rhomboid domain containing 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 NPD007 RHBDL7 rhomboid, veinlet-like 7 (Drosophila) Rhomboid family 926 2004-10-20 2006-02-22 2006-02-22 2023-01-20 57414 ENSG00000005486 OTTHUMG00000156435 uc064emv.1 AF226732 NM_020684 "CCDS43602|CCDS43603" Q6NTF9 12838346 MGI:1915612 RGD:1308231 615203 S54.955 HGNC:23082 "ENST00000006777.11|NM_001040456.3" HGNC:1308 RHBDD3 rhomboid domain containing 3 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 PTAG C22orf3 chromosome 22 open reading frame 3 Rhomboid family 926 2000-03-29 2006-02-22 2006-02-22 2023-01-20 25807 ENSG00000100263 OTTHUMG00000151032 uc003aeq.2 AL050346 NM_012265 CCDS13850 Q9Y3P4 "10591208|15105437" MGI:2444684 RGD:1311827 S54.951 HGNC:1308 "ENST00000216085.12|NM_012265.3" HGNC:20561 RHBDF1 rhomboid 5 homolog 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "EGFR-RS|FLJ2235|Dist1|iRhom1" C16orf8 "chromosome 16 open reading frame 8|rhomboid family 1 (Drosophila)|rhomboid 5 homolog 1 (Drosophila)" Rhomboid family 926 2003-04-07 2016-05-09 2023-01-20 64285 ENSG00000007384 OTTHUMG00000060719 uc002cfl.4 BC014425 NM_022450 CCDS32344 Q96CC6 "8318735|15965977" MGI:104328 RGD:1305075 614403 S54.952 HGNC:20561 "ENST00000262316.10|NM_022450.5" HGNC:44499 RHBDF1P1 RHBDF1 pseudogene 1 pseudogene pseudogene Approved 3p25.1 03p25.1 2012-11-12 2014-12-17 2014-12-17 131973 ENSG00000234123 OTTHUMG00000155546 NG_022195 PGOHUM00000237542 HGNC:44499 @@ -28205,9 +28208,9 @@ HGNC:10007 RHBDL1 rhomboid like 1 protein-coding gene gene with protein product HGNC:16083 RHBDL2 rhomboid like 2 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ20435 "rhomboid (veinlet, Drosophila)-like 2|rhomboid, veinlet-like 2 (Drosophila)" Rhomboid family 926 2001-07-20 2016-05-09 2023-01-20 54933 ENSG00000158315 OTTHUMG00000000487 uc001ccu.1 AK000442 NM_017821 CCDS30680 Q9NX52 MGI:3608413 RGD:1308295 608962 S54.002 3.4.21.105 HGNC:16083 "ENST00000372990.6|NM_017821.5" HGNC:16502 RHBDL3 rhomboid like 3 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 VRHO RHBDL4 "rhomboid, veinlet-like 4 (Drosophila)|rhomboid, veinlet-like 3 (Drosophila)" "EF-hand domain containing|Rhomboid family" "863|926" 2001-11-26 2016-05-09 2023-01-20 162494 ENSG00000141314 OTTHUMG00000179568 uc002hhe.1 AJ313480 NM_138328 "CCDS82103|CCDS92287|CCDS32613" P58872 11900977 MGI:2179276 RGD:1311901 619017 3.4.21.105 HGNC:16502 "ENST00000269051.9|NM_138328.3" HGNC:14572 RHBG Rh family B glycoprotein protein-coding gene gene with protein product Approved 1q22 01q22 SLC42A2 solute carrier family 42 member 2 "Rhesus blood group, B glycoprotein|Rh family B glycoprotein (gene/pseudogene)" Solute carrier family 42 2192 2001-05-08 2020-05-01 2023-05-16 57127 ENSG00000132677 OTTHUMG00000024057 uc031vbi.2 AF193807 NM_001256395 CCDS41414 Q9H310 10852913 MGI:1927379 RGD:727813 607079 SLC42A2 objectId:1199 HGNC:14572 "ENST00000537040.6|NM_020407.5" -HGNC:10008 RHCE Rh blood group CcEe antigens protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CD240CE RH Rhesus blood group, CcEe antigens "Blood group antigens|CD molecules" "454|471" 1993-10-22 2016-01-13 2023-01-20 6006 ENSG00000188672 OTTHUMG00000007650 uc001bkf.4 BC075081 NM_020485 "CCDS30637|CCDS81283|CCDS30636|CCDS30634|CCDS30635" P18577 8220426 MGI:1202882 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_797|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_797.xml" 111700 118311 CD240CE HGNC:10008 "ENST00000294413.13|NM_020485.8" HGNC:10008 +HGNC:10008 RHCE Rh blood group CcEe antigens protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CD240CE RH Rhesus blood group, CcEe antigens "Blood group antigens|CD molecules" "454|471" 1993-10-22 2016-01-13 2023-01-20 6006 ENSG00000188672 OTTHUMG00000007650 uc001bkf.4 BC075081 NM_020485 "CCDS30636|CCDS30634|CCDS30637|CCDS30635|CCDS81283" P18577 8220426 MGI:1202882 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_797|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_797.xml" 111700 118311 CD240CE HGNC:10008 "ENST00000294413.13|NM_020485.8" HGNC:10008 HGNC:18140 RHCG Rh family C glycoprotein protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "RHGK|PDRC2|SLC42A3" C15orf6 "chromosome 15 open reading frame 6|Rhesus blood group, C glycoprotein" Solute carrier family 42 2192 2002-11-26 2016-01-13 2023-01-20 51458 ENSG00000140519 OTTHUMG00000149647 uc002bnz.4 AF081497 NM_016321 CCDS10351 Q9UBD6 10852913 MGI:1888517 RGD:727859 605381 SLC42A3 objectId:1200 HGNC:18140 "ENST00000268122.9|NM_016321.3" -HGNC:10009 RHD Rh blood group D antigen protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "Rh30a|Rh4|RhPI|RhII|DIIIc|CD240D" RH Rhesus blood group, D antigen "Blood group antigens|CD molecules" "454|471" 1986-01-01 2016-01-13 2023-03-15 6007 ENSG00000187010 OTTHUMG00000003476 uc001bjz.5 AB012623 NM_016124 "CCDS60028|CCDS53285|CCDS60031|CCDS60027|CCDS60030|CCDS60029|CCDS262" Q02161 8220426 MGI:1202882 RGD:620451 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_796|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_796.xml" 111680 286217 CD240D HGNC:10009 "ENST00000328664.9|NM_016124.6" HGNC:10009 +HGNC:10009 RHD Rh blood group D antigen protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "Rh30a|Rh4|RhPI|RhII|DIIIc|CD240D" RH Rhesus blood group, D antigen "Blood group antigens|CD molecules" "454|471" 1986-01-01 2016-01-13 2023-03-15 6007 ENSG00000187010 OTTHUMG00000003476 uc001bjz.5 AB012623 NM_016124 "CCDS262|CCDS60027|CCDS60029|CCDS53285|CCDS60031|CCDS60030|CCDS60028" Q02161 8220426 MGI:1202882 RGD:620451 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_796|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_796.xml" 111680 286217 CD240D HGNC:10009 "ENST00000328664.9|NM_016124.6" HGNC:10009 HGNC:10011 RHEB Ras homolog, mTORC1 binding protein-coding gene gene with protein product Approved 7q36.1 07q36.1 RHEB2 "Ras homolog enriched in brain 2|Ras homolog enriched in brain" RAS type GTPase family 389 1996-07-17 2003-07-14 2017-08-07 2023-01-20 6009 ENSG00000106615 OTTHUMG00000157330 uc003wkh.1 D78132 NM_005614 CCDS5927 Q15382 "15854902|8661031" MGI:97912 RGD:621840 601293 470974 HGNC:10011 "ENST00000262187.10|NM_005614.4" HGNC:10011 HGNC:21166 RHEBL1 RHEB like 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "MGC34869|FLJ25797|RHEB2" Ras homolog enriched in brain like 1 RAS type GTPase family 389 2003-05-22 2017-08-07 2023-01-20 121268 ENSG00000167550 OTTHUMG00000170407 uc001rtc.2 AK098663 NM_144593 CCDS8778 Q8TAI7 16098514 MGI:1916409 RGD:727778 618956 HGNC:21166 "ENST00000301068.11|NM_144593.3" HGNC:10010 RHEBP1 RHEB pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 RHEB RHEB1 "Ras homolog enriched in brain 1|Ras-homolog enriched in brain pseudogene 1" 1995-11-14 2003-07-16 2017-08-07 2017-08-07 6008 ENSG00000229927 OTTHUMG00000018102 NG_002826 8206940 470976 PGOHUM00000289843 HGNC:10010 @@ -28216,11 +28219,11 @@ HGNC:44992 RHEBP3 RHEB pseudogene 3 pseudogene pseudogene Approved 22q11.21 22q1 HGNC:25341 RHEX regulator of hemoglobinization and erythroid cell expansion protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ16052 regulator of human erythroid cell expansion C1orf186 chromosome 1 open reading frame 186 2005-08-12 2017-10-23 2017-10-23 2023-01-20 440712 ENSG00000263961 OTTHUMG00000184376 uc001hdt.3 AK122631 NM_001007544 CCDS73014 Q6ZWK4 25092874 616088 HGNC:25341 "ENST00000331555.10|NM_001007544.4" HGNC:28206 RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "HKMT1188|MGC13204|RHINO" Rad9, Rad1, Hus1 interacting nuclear orphan C12orf32 chromosome 12 open reading frame 32 2006-01-17 2012-08-23 2012-08-23 2023-01-20 83695 ENSG00000171792 OTTHUMG00000158557 uc031qfr.2 AK021945 NM_031465 "CCDS58199|CCDS8518" Q9BSD3 "20811708|21659603" MGI:1915315 RGD:1359404 614085 HGNC:28206 "ENST00000489288.7|NM_001252499.3" HGNC:10012 RHO rhodopsin protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "OPN2|CSNBAD1" opsin 2, rod pigment RP4 retinitis pigmentosa 4, autosomal dominant Opsin receptors 215 1986-01-01 2008-04-16 2023-01-20 6010 ENSG00000163914 OTTHUMG00000159542 uc003emt.4 AB065668 NM_000539 CCDS3063 P08100 2016091 MGI:97914 RGD:3573 Mutations of the Rhodopsin Gene|http://www.retina-international.org/files/sci-news/rhomut.htm 180380 118315 objectId:2963 HGNC:10012 "ENST00000296271.4|NM_000539.3" HGNC:10012 -HGNC:667 RHOA ras homolog family member A protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "Rho12|RHOH12" "ARH12|ARHA" ras homolog gene family, member A Rho family GTPases 390 1990-03-19 2004-03-23 2012-02-27 2023-01-20 387 ENSG00000067560 OTTHUMG00000156838 uc003cwu.4 BC001360 NM_001664 "CCDS2795|CCDS82775|CCDS93276|CCDS82774" P61586 9605859 MGI:1096342 RGD:619921 LRG_1085|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1085.xml RHOA 165390 HGNC:667 "ENST00000418115.6|NM_001664.4" HGNC:667 +HGNC:667 RHOA ras homolog family member A protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "Rho12|RHOH12" "ARH12|ARHA" ras homolog gene family, member A Rho family GTPases 390 1990-03-19 2004-03-23 2012-02-27 2023-01-20 387 ENSG00000067560 OTTHUMG00000156838 uc003cwu.4 BC001360 NM_001664 "CCDS2795|CCDS93276|CCDS82775|CCDS82774" P61586 9605859 MGI:1096342 RGD:619921 LRG_1085|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1085.xml RHOA 165390 HGNC:667 "ENST00000418115.6|NM_001664.4" HGNC:667 HGNC:41308 RHOA-IT1 RHOA intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 RHOA intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 106480739 ENSG00000235908 OTTHUMG00000156844 uc062jtd.1 RHOA-IT1 HGNC:668 RHOB ras homolog family member B protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "RHOH6|MST081" oncogene RHO H6 "ARH6|ARHB" ras homolog gene family, member B Rho family GTPases 390 1997-04-16 2004-03-24 2012-02-27 2023-01-20 388 ENSG00000143878 OTTHUMG00000090755 uc002rdv.4 NM_004040 CCDS1699 P62745 "3283705|16278215" MGI:107949 RGD:621309 165370 HGNC:668 "ENST00000272233.6|NM_004040.4" HGNC:18738 RHOBTB1 Rho related BTB domain containing 1 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 KIAA0740 Rho-related BTB domain containing 1 "Rho family GTPases|BTB domain containing" "390|861" 2002-06-21 2016-02-23 2023-01-20 9886 ENSG00000072422 OTTHUMG00000018292 uc001jlk.4 AB018283 NM_001242359 CCDS7261 O94844 "11222756|27314390" MGI:1916538 RGD:1306871 607351 HGNC:18738 "ENST00000337910.10|NM_014836.5" -HGNC:18756 RHOBTB2 Rho related BTB domain containing 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "KIAA0717|DBC2" Rho-related BTB domain containing 2 "Rho family GTPases|BTB domain containing" "390|861" 2002-06-21 2016-02-23 2023-01-20 23221 ENSG00000008853 OTTHUMG00000097827 uc003xcq.3 AF315385 NM_001160036 "CCDS6034|CCDS55211|CCDS55210" Q9BYZ6 "11222756|27314390" MGI:2180557 RGD:1309924 607352 HGNC:18756 "ENST00000251822.7|NM_015178.3" HGNC:18756 +HGNC:18756 RHOBTB2 Rho related BTB domain containing 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "KIAA0717|DBC2" Rho-related BTB domain containing 2 "Rho family GTPases|BTB domain containing" "390|861" 2002-06-21 2016-02-23 2023-01-20 23221 ENSG00000008853 OTTHUMG00000097827 uc003xcq.3 AF315385 NM_001160036 "CCDS55211|CCDS6034|CCDS55210" Q9BYZ6 "11222756|27314390" MGI:2180557 RGD:1309924 607352 HGNC:18756 "ENST00000251822.7|NM_015178.3" HGNC:18756 HGNC:18757 RHOBTB3 Rho related BTB domain containing 3 protein-coding gene gene with protein product Approved 5q15 05q15 KIAA0878 Rho-related BTB domain containing 3 BTB domain containing 861 2002-06-21 2016-02-23 2023-01-20 22836 ENSG00000164292 OTTHUMG00000121171 uc003klm.4 AB020685 NM_014899 CCDS4077 O94955 "11222756|17035353|27314390" MGI:1920546 RGD:1311683 607353 HGNC:18757 "ENST00000379982.8|NM_014899.4" HGNC:669 RHOC ras homolog family member C protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "ARH9|ARHC" ras homolog gene family, member C Rho family GTPases 390 1997-04-16 2004-03-24 2012-02-27 2023-01-20 389 ENSG00000155366 OTTHUMG00000011905 uc001ecr.2 BC052808 NM_175744 CCDS854 P08134 3283705 MGI:106028 RGD:1304965 165380 HGNC:669 "ENST00000339083.12|NM_175744.5" HGNC:670 RHOD ras homolog family member D protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "RhoHP1|Rho" "Rho-related protein HP1|Rho-related GTP-binding protein RhoD" ARHD ras homolog gene family, member D Rho family GTPases 390 2000-03-06 2004-03-24 2012-02-27 2023-01-20 29984 ENSG00000173156 OTTHUMG00000167102 uc001ojv.4 D85815 NM_014578 "CCDS73330|CCDS8155" O00212 9116026 MGI:108446 RGD:1310985 605781 HGNC:670 "ENST00000308831.7|NM_014578.4" @@ -28234,11 +28237,11 @@ HGNC:40816 RHOQ-AS1 RHOQ antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:20003 RHOQP1 ras homolog family member Q pseudogene 1 pseudogene pseudogene Approved 14q21.3 14q21.3 "ARHQP|RHOQP" "ras homolog gene family, member Q pseudogene|ras homolog gene family, member Q pseudogene 1" 2003-01-13 2010-03-05 2012-02-27 2014-11-19 319093 ENSG00000258568 OTTHUMG00000170812 NG_002478 PGOHUM00000248161 HGNC:20003 HGNC:37836 RHOQP2 ras homolog family member Q pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 ras homolog gene family, member Q pseudogene 2 2010-03-05 2012-02-27 2014-11-19 730041 ENSG00000232742 OTTHUMG00000153608 NG_023007 PGOHUM00000240942 HGNC:37836 HGNC:37837 RHOQP3 ras homolog family member Q pseudogene 3 pseudogene pseudogene Approved 2q21.1 02q21.1 ras homolog gene family, member Q pseudogene 3 2010-03-05 2012-02-27 2014-11-19 284988 ENSG00000230756 OTTHUMG00000153752 NG_022969 PGOHUM00000240296 HGNC:37837 -HGNC:21168 RHOT1 ras homolog family member T1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "MIRO-1|FLJ11040|MIRO1" mitochondrial Rho (MIRO) GTPase 1 ARHT1 ras homolog gene family, member T1 "Miro like atypical Rho GTPases|EF-hand domain containing" "392|863" 2003-07-10 2004-03-24 2012-02-27 2023-01-20 55288 ENSG00000126858 OTTHUMG00000179564 uc002hgy.5 AJ517412 NM_018307 "CCDS32611|CCDS74031|CCDS74030|CCDS32612|CCDS32610" Q8IXI2 12482879 MGI:1926078 RGD:1307023 613888 HGNC:21168 "ENST00000545287.7|NM_001033566.3" +HGNC:21168 RHOT1 ras homolog family member T1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "MIRO-1|FLJ11040|MIRO1" mitochondrial Rho (MIRO) GTPase 1 ARHT1 ras homolog gene family, member T1 "Miro like atypical Rho GTPases|EF-hand domain containing" "392|863" 2003-07-10 2004-03-24 2012-02-27 2023-01-20 55288 ENSG00000126858 OTTHUMG00000179564 uc002hgy.5 AJ517412 NM_018307 "CCDS74030|CCDS32610|CCDS32611|CCDS32612|CCDS74031" Q8IXI2 12482879 MGI:1926078 RGD:1307023 613888 HGNC:21168 "ENST00000545287.7|NM_001033566.3" HGNC:23777 RHOT1P1 ras homolog family member T1 pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 "RHOT3|RHOT1P" "ras homolog gene family, member T3|ras homolog gene family, member T1 pseudogene|ras homolog gene family, member T1 pseudogene 1" 2005-10-06 2010-03-05 2012-02-27 2017-10-30 100462813 ENSG00000266145 OTTHUMG00000178664 NG_026314 PGOHUM00000294739 HGNC:23777 HGNC:37838 RHOT1P2 ras homolog family member T1 pseudogene 2 pseudogene pseudogene Approved 21q11.2 21q11.2 ras homolog gene family, member T1 pseudogene 2 2010-03-05 2012-02-27 2014-11-19 100462811 ENSG00000203616 OTTHUMG00000155588 NG_021988 PGOHUM00000239031 HGNC:37838 HGNC:37839 RHOT1P3 ras homolog family member T1 pseudogene 3 pseudogene pseudogene Approved 13q11 13q11 ras homolog gene family, member T1 pseudogene 3 2010-03-05 2012-02-27 2014-11-19 100462810 ENSG00000242756 OTTHUMG00000086705 NG_021958 PGOHUM00000248294 HGNC:37839 -HGNC:21169 RHOT2 ras homolog family member T2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MIRO-2|MIRO2" mitochondrial Rho (MIRO) GTPase 2 "C16orf39|ARHT2" "chromosome 16 open reading frame 39|ras homolog gene family, member T2" "Miro like atypical Rho GTPases|EF-hand domain containing" "392|863" 2003-07-10 2004-03-24 2012-02-27 2023-01-20 89941 ENSG00000140983 OTTHUMG00000121139 uc002cip.4 BC014942 NM_138769 "CCDS10417|CCDS92073" Q8IXI1 12482879 MGI:2384892 RGD:727970 613889 HGNC:21169 "ENST00000315082.9|NM_138769.3" +HGNC:21169 RHOT2 ras homolog family member T2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MIRO-2|MIRO2" mitochondrial Rho (MIRO) GTPase 2 "C16orf39|ARHT2" "chromosome 16 open reading frame 39|ras homolog gene family, member T2" "Miro like atypical Rho GTPases|EF-hand domain containing" "392|863" 2003-07-10 2004-03-24 2012-02-27 2023-01-20 89941 ENSG00000140983 OTTHUMG00000121139 uc002cip.4 BC014942 NM_138769 "CCDS92073|CCDS10417" Q8IXI1 12482879 MGI:2384892 RGD:727970 613889 HGNC:21169 "ENST00000315082.9|NM_138769.3" HGNC:17794 RHOU ras homolog family member U protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "WRCH-1|DJ646B12.2|FLJ10616|WRCH1|CDC42L1|hG28K|fJ646B12.2" "Ryu GTPase|Wnt-1 responsive Cdc42 homolog|2310026M05Rik|GTP-binding protein like 1|CDC42-like GTPase|GTP-binding protein SB128|ras-like gene family member U" ARHU ras homolog gene family, member U Rho family GTPases 390 2002-04-22 2004-03-24 2012-02-27 2023-01-20 58480 ENSG00000116574 OTTHUMG00000037919 uc001htf.3 NM_021205 CCDS1575 Q7L0Q8 11459829 MGI:1916831 RGD:1596918 606366 HGNC:17794 "ENST00000366691.4|NM_021205.6" HGNC:18313 RHOV ras homolog family member V protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "Chp|WRCH2" ARHV ras homolog gene family, member V Rho family GTPases 390 2002-04-22 2004-03-24 2012-02-27 2023-01-20 171177 ENSG00000104140 OTTHUMG00000130134 uc001znd.3 AY059636 NM_133639 CCDS10068 Q96L33 11839775 MGI:2444227 RGD:628824 620101 HGNC:18313 "ENST00000220507.5|NM_133639.4" HGNC:29993 RHOXF1 Rhox homeobox family member 1 protein-coding gene gene with protein product Approved Xq24 Xq24 "OTEX|PEPP1" Rhox homeobox family, member 1 PRD class homeoboxes and pseudogenes 521 2007-07-27 2015-11-18 2023-01-20 158800 ENSG00000101883 OTTHUMG00000022290 uc004esk.2 NM_139282 CCDS14593 Q8NHV9 "11980563|12490318" MGI:1920864 RGD:1586264 300446 8630 HGNC:29993 "ENST00000217999.3|NM_139282.3" @@ -28252,22 +28255,22 @@ HGNC:19973 RHPN1 rhophilin Rho GTPase binding protein 1 protein-coding gene gene HGNC:28457 RHPN1-AS1 RHPN1 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 MGC3113 C8orf51 "chromosome 8 open reading frame 51|RHPN1 antisense RNA 1 (non-protein coding)|RHPN1 antisense RNA 1" Antisense RNAs 1987 2005-08-11 2012-04-13 2012-10-15 2023-03-15 78998 ENSG00000254389 OTTHUMG00000165005 uc011lkg.5 NR_026785 Q9BWJ2 "28124977|31312362" RHPN1-AS1 HGNC:28457 HGNC:19974 RHPN2 rhophilin Rho GTPase binding protein 2 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 PDZ domain containing 1220 2003-01-21 2016-06-29 2023-01-20 85415 ENSG00000131941 OTTHUMG00000180340 uc002nuf.4 AF268032 NM_033103 CCDS12427 Q8IUC4 12221077 MGI:1289234 RGD:1308366 617932 HGNC:19974 "ENST00000254260.8|NM_033103.5" HGNC:37708 RHPN2P1 rhophilin Rho GTPase binding protein 2 pseudogene 1 pseudogene pseudogene Approved 15q11.1 15q11.1 2010-02-01 2016-06-29 2020-04-03 646090 ENSG00000258628 OTTHUMG00000171659 XR_017120 A8MT19 MGI:1289234 PGOHUM00000292790 HGNC:37708 -HGNC:26537 RIBC1 RIB43A domain with coiled-coils 1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 FLJ32783 2004-08-18 2023-01-20 158787 ENSG00000158423 OTTHUMG00000021615 uc004dsk.6 AK057345 NM_144968 "CCDS35299|CCDS59168|CCDS14353" Q8N443 MGI:1913861 RGD:1359621 HGNC:26537 "ENST00000375327.6|NM_001031745.5" +HGNC:26537 RIBC1 RIB43A domain with coiled-coils 1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 FLJ32783 2004-08-18 2023-01-20 158787 ENSG00000158423 OTTHUMG00000021615 uc004dsk.6 AK057345 NM_144968 "CCDS59168|CCDS14353|CCDS35299" Q8N443 MGI:1913861 RGD:1359621 HGNC:26537 "ENST00000375327.6|NM_001031745.5" HGNC:13241 RIBC2 RIB43A domain with coiled-coils 2 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "DKFZp566F0546|FLJ25720" C22orf11 chromosome 22 open reading frame 11 2004-06-07 2004-08-18 2004-08-18 2023-01-20 26150 ENSG00000128408 OTTHUMG00000151332 uc032qrc.2 AK098586 NM_015653 CCDS14066 Q9H4K1 24424412 MGI:1914997 RGD:1309033 HGNC:13241 "ENST00000614167.2|NM_015653.5" -HGNC:17686 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 bA207C16.1 KIAA1432 "KIAA1432|RAB6A GEF complex partner 1" WD repeat domain containing 362 2003-12-02 2014-07-23 2015-07-22 2023-01-20 57589 ENSG00000107036 OTTHUMG00000019505 AB037853 NM_020829 "CCDS34982|CCDS75811|CCDS47949" Q4ADV7 "10718198|23091056" MGI:1924893 RGD:1310016 610354 HGNC:17686 "ENST00000414202.7|NM_020829.4" HGNC:17686 -HGNC:30338 RIC3 RIC3 acetylcholine receptor chaperone protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FLJ11608|PRO1385|AYST720" resistance to inhibitors of cholinesterase 3 homolog (C. elegans) 2005-08-17 2013-08-05 2023-01-20 79608 ENSG00000166405 OTTHUMG00000165694 uc001mgc.3 NM_024557 "CCDS7788|CCDS44533|CCDS55741|CCDS55742" Q7Z5B4 12821669 MGI:2443887 RGD:1588939 610509 HGNC:30338 "ENST00000309737.11|NM_001206671.4" HGNC:30338 +HGNC:17686 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 bA207C16.1 KIAA1432 "KIAA1432|RAB6A GEF complex partner 1" WD repeat domain containing 362 2003-12-02 2014-07-23 2015-07-22 2023-01-20 57589 ENSG00000107036 OTTHUMG00000019505 AB037853 NM_020829 "CCDS75811|CCDS47949|CCDS34982" Q4ADV7 "10718198|23091056" MGI:1924893 RGD:1310016 610354 HGNC:17686 "ENST00000414202.7|NM_020829.4" HGNC:17686 +HGNC:30338 RIC3 RIC3 acetylcholine receptor chaperone protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FLJ11608|PRO1385|AYST720" resistance to inhibitors of cholinesterase 3 homolog (C. elegans) 2005-08-17 2013-08-05 2023-01-20 79608 ENSG00000166405 OTTHUMG00000165694 uc001mgc.3 NM_024557 "CCDS44533|CCDS55742|CCDS7788|CCDS55741" Q7Z5B4 12821669 MGI:2443887 RGD:1588939 610509 HGNC:30338 "ENST00000309737.11|NM_001206671.4" HGNC:30338 HGNC:54191 RIC3-DT RIC3 divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Divergent transcripts 1990 2019-02-28 2019-02-28 101927936 ENSG00000246820 XR_931009 HGNC:54191 -HGNC:29550 RIC8A RIC8 guanine nucleotide exchange factor A protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "synembryn|synembryn-A" resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2005-08-17 2013-08-05 2023-01-20 60626 ENSG00000177963 OTTHUMG00000119069 uc001lof.5 AK022870 NM_021932 "CCDS65982|CCDS7690" Q9NPQ8 "10985349|11230166" MGI:2141866 RGD:727957 609146 HGNC:29550 "ENST00000526104.6|NM_001286134.2" -HGNC:25555 RIC8B RIC8 guanine nucleotide exchange factor B protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ10620|hSyn|RIC8" resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) Armadillo like helical domain containing 1492 2005-08-17 2013-08-05 2023-01-20 55188 ENSG00000111785 OTTHUMG00000144188 uc001tlx.4 AK128102 NM_018157 "CCDS86331|CCDS9109|CCDS81733|CCDS81734" Q9NVN3 MGI:2682307 RGD:631419 609147 HGNC:25555 "ENST00000392837.9|NM_001330145.2" +HGNC:29550 RIC8A RIC8 guanine nucleotide exchange factor A protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "synembryn|synembryn-A" resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2005-08-17 2013-08-05 2023-01-20 60626 ENSG00000177963 OTTHUMG00000119069 uc001lof.5 AK022870 NM_021932 "CCDS7690|CCDS65982" Q9NPQ8 "10985349|11230166" MGI:2141866 RGD:727957 609146 HGNC:29550 "ENST00000526104.6|NM_001286134.2" +HGNC:25555 RIC8B RIC8 guanine nucleotide exchange factor B protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ10620|hSyn|RIC8" resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) Armadillo like helical domain containing 1492 2005-08-17 2013-08-05 2023-01-20 55188 ENSG00000111785 OTTHUMG00000144188 uc001tlx.4 AK128102 NM_018157 "CCDS81733|CCDS86331|CCDS9109|CCDS81734" Q9NVN3 MGI:2682307 RGD:631419 609147 HGNC:25555 "ENST00000392837.9|NM_001330145.2" HGNC:28611 RICTOR RPTOR independent companion of MTOR complex 2 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 "MGC39830|AVO3|PIA|KIAA1999" "rapamycin-insensitive companion of mTOR|pianissimo" RPTOR independent companion of MTOR, complex 2 "MTOR complex 2|Armadillo like helical domain containing" "1333|1492" 2009-05-29 2016-04-01 2023-01-20 253260 ENSG00000164327 OTTHUMG00000162037 uc003jlp.4 NM_152756 "CCDS68861|CCDS34148" Q6R327 15268862 MGI:1926007 RGD:1307224 609022 470978 HGNC:28611 "ENST00000357387.8|NM_152756.5" HGNC:28611 HGNC:16897 RIDA reactive intermediate imine deaminase A homolog protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "UK114|P14.5|PSP" "translational inhibitor p14.5|reactive intermediate/imine deaminase A homolog" HRSP12 heat-responsive protein 12 2004-06-03 2016-01-18 2016-01-18 2023-01-20 10247 ENSG00000132541 OTTHUMG00000164670 uc003yii.2 BC008418 NM_005836 CCDS6276 P52758 "8973653|20817725|22094463" MGI:1095401 RGD:70940 602487 HGNC:16897 "ENST00000254878.8|NM_005836.3" HGNC:23207 RIF1 replication timing regulatory factor 1 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 "FLJ12870|FLJ10599" RAP1 interacting factor homolog (yeast) Armadillo like helical domain containing 1492 2004-12-09 2014-06-02 2023-01-20 55183 ENSG00000080345 OTTHUMG00000131886 uc061ope.1 AK022932 NM_001177663 "CCDS2194|CCDS54406" Q5UIP0 "15342490|15042697|22850674" MGI:1098622 RGD:1562474 608952 HGNC:23207 "ENST00000444746.7|NM_018151.5" HGNC:19102 RIGI RNA sensor RIG-I protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "RIG-I|FLJ13599|DKFZp434J1111|RIG-1|RIG1" "RNA helicase RIG-I|retinoic acid inducible gene I|Antiviral innate immune response receptor RIG-I" DDX58 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 58|DExD/H-box helicase 58" "DEAD-box helicases|Caspase recruitment domain containing" "499|959" 2004-05-10 2022-07-07 2022-07-07 2023-01-20 23586 ENSG00000107201 OTTHUMG00000019746 uc003zra.4 AF038963 NM_014314 CCDS6526 O95786 "21690088|34514601" MGI:2442858 RGD:1309460 609631 422901 objectId:2920 HGNC:19102 "ENST00000379883.3|NM_014314.4" HGNC:19102 HGNC:26686 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ36032 "NCRNA00166|C1orf230" "non-protein coding RNA 166|chromosome 1 open reading frame 230|regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1" 2008-12-09 2011-01-11 2019-07-04 2023-01-20 284485 ENSG00000178796 OTTHUMG00000013055 uc010pdj.2 NM_001144956 CCDS53368 A6NNX1 MGI:1913603 RGD:2303311 HGNC:26686 "ENST00000479191.2|NM_001144956.3" HGNC:30266 RILP Rab interacting lysosomal protein protein-coding gene gene with protein product Approved 17p13.3 17p13.3 FLJ31193 2004-03-11 2023-01-20 83547 ENSG00000167705 OTTHUMG00000090554 uc002ftd.4 AJ404317 NM_031430 CCDS11009 Q96NA2 11179213 MGI:2144271 RGD:1307691 607848 HGNC:30266 "ENST00000301336.7|NM_031430.3" -HGNC:26814 RILPL1 Rab interacting lysosomal protein like 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ39378 2007-11-27 2016-07-07 2023-01-20 353116 ENSG00000188026 OTTHUMG00000168686 uc001ufe.3 AK097550 NM_178314 "CCDS81752|CCDS45006" Q5EBL4 14668488 MGI:1922945 RGD:1307973 614092 HGNC:26814 "ENST00000376874.9|NM_178314.5" +HGNC:26814 RILPL1 Rab interacting lysosomal protein like 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ39378 2007-11-27 2016-07-07 2023-01-20 353116 ENSG00000188026 OTTHUMG00000168686 uc001ufe.3 AK097550 NM_178314 "CCDS45006|CCDS81752" Q5EBL4 14668488 MGI:1922945 RGD:1307973 614092 HGNC:26814 "ENST00000376874.9|NM_178314.5" HGNC:28787 RILPL2 Rab interacting lysosomal protein like 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "MGC7036|FLJ30380|FLJ32372" Rab interacting lysosomal protein-like 2 2007-11-27 2016-03-11 2023-01-20 196383 ENSG00000150977 OTTHUMG00000187294 uc001uey.2 AB085763 NM_145058 CCDS9248 Q969X0 14668488 MGI:1933112 RGD:1303140 614093 HGNC:28787 "ENST00000280571.10|NM_145058.3" -HGNC:30339 RIMBP2 RIMS binding protein 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "KIAA0318|RBP2|MGC15831|RIM-BP2|PPP1R133" protein phosphatase 1, regulatory subunit 133 Protein phosphatase 1 regulatory subunits 694 2006-01-24 2023-01-20 23504 ENSG00000060709 OTTHUMG00000168385 uc001uim.4 AB002316 NM_015347 "CCDS91777|CCDS91774|CCDS91776|CCDS31925|CCDS91775" O15034 10748113 MGI:2443235 RGD:708533 611602 HGNC:30339 "ENST00000690449.1|NM_001393629.1" +HGNC:30339 RIMBP2 RIMS binding protein 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "KIAA0318|RBP2|MGC15831|RIM-BP2|PPP1R133" protein phosphatase 1, regulatory subunit 133 Protein phosphatase 1 regulatory subunits 694 2006-01-24 2023-01-20 23504 ENSG00000060709 OTTHUMG00000168385 uc001uim.4 AB002316 NM_015347 "CCDS91777|CCDS91774|CCDS91775|CCDS91776|CCDS31925" O15034 10748113 MGI:2443235 RGD:708533 611602 HGNC:30339 "ENST00000690449.1|NM_001393629.1" HGNC:29344 RIMBP3 RIMS binding protein 3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "KIAA1666|RIMBP3.1|RIMBP3A" 2007-11-21 2023-01-20 85376 ENSG00000275793 OTTHUMG00000188355 uc002zsd.5 AB051453 NM_015672 CCDS46665 Q9UFD9 "11258795|17855024" MGI:2685449 612699 HGNC:29344 "ENST00000619918.1|NM_015672.2" HGNC:33891 RIMBP3B RIMS binding protein 3B protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2007-11-21 2023-01-20 440804 ENSG00000274600 OTTHUMG00000150819 uc002zuq.5 NM_001128635 CCDS46668 A6NNM3 17855024 MGI:2685449 612700 HGNC:33891 "ENST00000620804.2|NM_001128635.2" HGNC:33892 RIMBP3C RIMS binding protein 3C protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2007-11-21 2023-01-20 150221 ENSG00000183246 OTTHUMG00000150825 uc002zuy.5 NM_001128633 CCDS46669 A6NJZ7 17855024 MGI:2685449 RGD:1563657 612701 HGNC:33892 "ENST00000433039.2|NM_001128633.2" @@ -28276,10 +28279,10 @@ HGNC:29228 RIMKLB ribosomal modification protein rimK like family member B prote HGNC:34034 RIMKLBP1 ribosomal modification protein rimK like family member B pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 "FAM80C|RIMKLP|FAM80B2|RIMKLB2" "ribosomal modification protein rimK-like (E. coli) pseudogene|family with sequence similarity 80, member B2|ribosomal modification protein rimK-like family member B2" 2008-03-28 2010-10-25 2016-06-28 2016-06-28 54031 ENSG00000189089 OTTHUMG00000086605 NG_000912 PGOHUM00000239170 HGNC:34034 HGNC:39163 RIMKLBP2 ribosomal modification protein rimK like family member B pseudogene 2 pseudogene pseudogene Approved 1q41 01q41 2010-10-25 2016-06-28 2016-06-28 100422371 ENSG00000225920 OTTHUMG00000037142 NG_027041 PGOHUM00000244422 HGNC:39163 HGNC:27750 RIMOC1 RAB7A interacting MON1-CCZ1 complex subunit 1 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 LOC285636 C5orf51 chromosome 5 open reading frame 51 2008-07-18 2021-10-14 2021-10-14 2023-01-20 285636 ENSG00000205765 OTTHUMG00000162084 uc003jmo.4 "AL833916|AK094002" NM_175921 CCDS34151 A6NDU8 34432599 MGI:2146232 RGD:1305938 620266 HGNC:27750 "ENST00000381647.7|NM_175921.6" -HGNC:17282 RIMS1 regulating synaptic membrane exocytosis 1 protein-coding gene gene with protein product Approved 6q13 06q13 "RIM|KIAA0340|RIM1" Rab3-interacting molecule "RAB3IP2|CORD7" RAB3 interacting protein 2 "Regulating synaptic membrane exocytosis family|PDZ domain containing" "833|1220" 2002-04-29 2002-06-14 2002-06-12 2023-01-20 22999 ENSG00000079841 OTTHUMG00000015009 uc003pga.5 AB002338 NM_014989 "CCDS55032|CCDS55029|CCDS47449|CCDS55031|CCDS55033|CCDS55030" Q86UR5 "9205841|11438518" MGI:2152971 RGD:620000 606629 118319 HGNC:17282 "ENST00000521978.6|NM_014989.7" HGNC:17282 -HGNC:17283 RIMS2 regulating synaptic membrane exocytosis 2 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "KIAA0751|RIM2|OBOE" RAB3IP3 RAB3 interacting protein 3 "Regulating synaptic membrane exocytosis family|PDZ domain containing" "833|1220" 2002-04-29 2002-06-14 2002-06-12 2023-01-20 9699 ENSG00000176406 OTTHUMG00000162097 uc003ylp.4 AB018294 NM_001100117 "CCDS94332|CCDS43761|CCDS64949|CCDS94328|CCDS55269|CCDS64948|CCDS94331|CCDS94329|CCDS94327|CCDS94330" Q9UQ26 "9872452|12578829" MGI:2152972 RGD:620001 606630 HGNC:17283 "ENST00000696799.1|NM_001348484.3" HGNC:17283 +HGNC:17282 RIMS1 regulating synaptic membrane exocytosis 1 protein-coding gene gene with protein product Approved 6q13 06q13 "RIM|KIAA0340|RIM1" Rab3-interacting molecule "RAB3IP2|CORD7" RAB3 interacting protein 2 "Regulating synaptic membrane exocytosis family|PDZ domain containing" "833|1220" 2002-04-29 2002-06-14 2002-06-12 2023-01-20 22999 ENSG00000079841 OTTHUMG00000015009 uc003pga.5 AB002338 NM_014989 "CCDS55031|CCDS55029|CCDS55030|CCDS47449|CCDS55032|CCDS55033" Q86UR5 "9205841|11438518" MGI:2152971 RGD:620000 606629 118319 HGNC:17282 "ENST00000521978.6|NM_014989.7" HGNC:17282 +HGNC:17283 RIMS2 regulating synaptic membrane exocytosis 2 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "KIAA0751|RIM2|OBOE" RAB3IP3 RAB3 interacting protein 3 "Regulating synaptic membrane exocytosis family|PDZ domain containing" "833|1220" 2002-04-29 2002-06-14 2002-06-12 2023-01-20 9699 ENSG00000176406 OTTHUMG00000162097 uc003ylp.4 AB018294 NM_001100117 "CCDS64948|CCDS55269|CCDS94330|CCDS94332|CCDS43761|CCDS94331|CCDS94327|CCDS94328|CCDS64949|CCDS94329" Q9UQ26 "9872452|12578829" MGI:2152972 RGD:620001 606630 HGNC:17283 "ENST00000696799.1|NM_001348484.3" HGNC:17283 HGNC:21292 RIMS3 regulating synaptic membrane exocytosis 3 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "RIM3|NIM3" Regulating synaptic membrane exocytosis family 833 2003-06-19 2023-01-20 9783 ENSG00000117016 OTTHUMG00000007453 uc001cfu.2 BC003103 NM_014747 CCDS30687 Q9UJD0 "12620390|10748113" MGI:2443331 RGD:628762 611600 HGNC:21292 "ENST00000372684.8|NM_014747.3" -HGNC:16183 RIMS4 regulating synaptic membrane exocytosis 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ781B1.3 C20orf190 chromosome 20 open reading frame 190 Regulating synaptic membrane exocytosis family 833 2001-07-17 2003-06-20 2003-06-18 2023-01-20 140730 ENSG00000101098 OTTHUMG00000032546 uc002xms.4 NM_182970 "CCDS56191|CCDS13338" Q9H426 12620390 MGI:2674366 RGD:628695 611601 HGNC:16183 "ENST00000372851.8|NM_182970.4" +HGNC:16183 RIMS4 regulating synaptic membrane exocytosis 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ781B1.3 C20orf190 chromosome 20 open reading frame 190 Regulating synaptic membrane exocytosis family 833 2001-07-17 2003-06-20 2003-06-18 2023-01-20 140730 ENSG00000101098 OTTHUMG00000032546 uc002xms.4 NM_182970 "CCDS13338|CCDS56191" Q9H426 12620390 MGI:2674366 RGD:628695 611601 HGNC:16183 "ENST00000372851.8|NM_182970.4" HGNC:18749 RIN1 Ras and Rab interactor 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 VPS9 domain containing 928 2002-09-11 2023-01-20 9610 ENSG00000174791 OTTHUMG00000167085 uc001ohn.2 L36463 NM_004292 CCDS31614 Q13671 "9144171|1849280" MGI:2385695 RGD:620006 605965 HGNC:18749 "ENST00000311320.9|NM_004292.3" HGNC:18750 RIN2 Ras and Rab interactor 2 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 RASSF4 VPS9 domain containing 928 2002-09-11 2023-03-15 54453 ENSG00000132669 OTTHUMG00000031996 uc002wro.3 AB060339 NM_001242581 CCDS93018 Q8WYP3 "11733506|1849280|16423831" MGI:1921280 RGD:1305873 610222 220916 HGNC:18750 "ENST00000255006.12|NM_018993.4" HGNC:18750 HGNC:18751 RIN3 Ras and Rab interactor 3 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 FLJ22439 VPS9 domain containing 928 2002-09-11 2023-01-20 79890 ENSG00000100599 OTTHUMG00000171198 uc001yap.4 BC025248 NM_001319987 CCDS32144 Q8TB24 11733506 MGI:2385708 RGD:1305849 610223 HGNC:18751 "ENST00000216487.12|NM_024832.5" @@ -28287,25 +28290,25 @@ HGNC:10018 RING1 ring finger protein 1 protein-coding gene gene with protein pro HGNC:24795 RINL Ras and Rab interactor like protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ45909 VPS9 domain containing 928 2008-07-25 2015-11-13 2023-01-20 126432 ENSG00000187994 OTTHUMG00000182299 uc060ygm.1 AK127808 NM_198445 "CCDS12522|CCDS59386" Q6ZS11 MGI:2444024 RGD:1310133 HGNC:24795 "ENST00000591812.2|NM_001195833.2" HGNC:21876 RINT1 RAD50 interactor 1 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "FLJ11785|RINT-1" NRZ tethering complex 1931 2006-03-02 2023-01-20 60561 ENSG00000135249 OTTHUMG00000157400 uc003vda.1 AF317622 NM_021930 CCDS34726 Q6NUQ1 "11096100|15029241" MGI:1916233 RGD:1560433 610089 HGNC:21876 "ENST00000257700.7|NM_021930.6" HGNC:21876 HGNC:18656 RIOK1 RIO kinase 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "AD034|FLJ30006|bA288G3.1|RRP10" RIO kinase 1 (yeast) Ribosomal biogenesis factors 1729 2003-06-25 2012-12-10 2023-01-20 83732 ENSG00000124784 OTTHUMG00000014207 uc003mxn.4 BC006104 NM_031480 CCDS4500 Q9BRS2 MGI:1918590 RGD:1306086 617753 objectId:2186 HGNC:18656 "ENST00000379834.7|NM_031480.3" -HGNC:18999 RIOK2 RIO kinase 2 protein-coding gene gene with protein product Approved 5q15 05q15 FLJ11159 RIO kinase 2 (yeast) Ribosomal biogenesis factors 1729 2003-06-25 2012-12-10 2023-01-20 55781 ENSG00000058729 OTTHUMG00000128723 uc003kmz.4 AK002021 NM_018343 "CCDS54884|CCDS4089" Q9BVS4 MGI:1914295 RGD:1311588 617754 objectId:2187 HGNC:18999 "ENST00000283109.8|NM_018343.3" HGNC:18999 +HGNC:18999 RIOK2 RIO kinase 2 protein-coding gene gene with protein product Approved 5q15 05q15 FLJ11159 RIO kinase 2 (yeast) Ribosomal biogenesis factors 1729 2003-06-25 2012-12-10 2023-01-20 55781 ENSG00000058729 OTTHUMG00000128723 uc003kmz.4 AK002021 NM_018343 "CCDS4089|CCDS54884" Q9BVS4 MGI:1914295 RGD:1311588 617754 objectId:2187 HGNC:18999 "ENST00000283109.8|NM_018343.3" HGNC:18999 HGNC:11451 RIOK3 RIO kinase 3 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 SUDD "sudD (suppressor of bimD6, Aspergillus nidulans) homolog|RIO kinase 3 (yeast)" Ribosomal biogenesis factors 1729 1999-02-01 2003-06-25 2012-12-10 2023-01-20 8780 ENSG00000101782 OTTHUMG00000131813 uc002kui.5 AF013591 NM_003831 "CCDS11877|CCDS86664" O14730 "9602165|22418843" MGI:1914128 RGD:1310833 603579 objectId:2188 HGNC:11451 "ENST00000339486.8|NM_003831.5" HGNC:39714 RIOK3P1 RIO kinase 3 pseudogene 1 pseudogene pseudogene Approved 13q22.1 13q22.1 RIO kinase 3 (yeast) pseudogene 1 2011-03-23 2012-12-10 2016-10-05 122145 ENSG00000225944 OTTHUMG00000017083 NG_002288 PGOHUM00000248633 HGNC:39714 HGNC:20968 RIOX1 ribosomal oxygenase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ21802|NO66|MAPJD|JMJD9" "nucleolar protein 66|Myc-associated protein with JmjC domain" C14orf169 chromosome 14 open reading frame 169 Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2003-11-19 2017-01-04 2017-01-04 2023-01-20 79697 ENSG00000170468 OTTHUMG00000166530 uc032bfz.2 BC011350 NM_024644 CCDS73660 Q9H6W3 "19927124|17308053|22750859|27309310" MGI:1919202 RGD:1307704 611919 1.14.11.27 HGNC:20968 "ENST00000304061.8|NM_024644.5" -HGNC:19441 RIOX2 ribosomal oxygenase 2 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 "MINA53|FLJ14393|mdig|NO52|JMJD10" MINA MYC induced nuclear antigen Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2004-02-26 2017-01-04 2017-01-04 2023-01-20 84864 ENSG00000170854 OTTHUMG00000160107 uc003dsa.3 AB083189 NM_032778 "CCDS43114|CCDS2929" Q8IUF8 12091391 MGI:1914264 RGD:708521 612049 HGNC:19441 "ENST00000394198.7|NM_153182.4" +HGNC:19441 RIOX2 ribosomal oxygenase 2 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 "MINA53|FLJ14393|mdig|NO52|JMJD10" MINA MYC induced nuclear antigen Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2004-02-26 2017-01-04 2017-01-04 2023-01-20 84864 ENSG00000170854 OTTHUMG00000160107 uc003dsa.3 AB083189 NM_032778 "CCDS2929|CCDS43114" Q8IUF8 12091391 MGI:1914264 RGD:708521 612049 HGNC:19441 "ENST00000394198.7|NM_153182.4" HGNC:10019 RIPK1 receptor interacting serine/threonine kinase 1 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "RIP|RIP1|RIP-1" receptor-interacting protein kinase 1 receptor (TNFRSF)-interacting serine-threonine kinase 1 Ripoptosome 1340 1999-05-07 2015-11-17 2023-01-20 8737 ENSG00000137275 OTTHUMG00000014134 uc063llv.1 U25994 NM_003804 "CCDS93851|CCDS4482" Q13546 "7538908|8612133" MGI:108212 RGD:1310158 603453 objectId:2189 HGNC:10019 "ENST00000259808.9|NM_001354930.2" HGNC:10019 HGNC:10020 RIPK2 receptor interacting serine/threonine kinase 2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "RICK|RIP2|CARDIAK|CARD3" receptor-interacting serine-threonine kinase 2 Caspase recruitment domain containing 959 1999-05-07 2015-11-17 2023-01-20 8767 ENSG00000104312 OTTHUMG00000163809 uc003yee.4 AC004003 NM_001375360 CCDS6247 O43353 "9575181|9705938" MGI:1891456 RGD:1309167 603455 objectId:2190 HGNC:10020 "ENST00000220751.5|NM_003821.6" HGNC:55545 RIPK2-DT RIPK2 divergent transcript non-coding RNA RNA, long non-coding Approved 8q21.3 08q21.3 Divergent transcripts 1990 2021-03-24 2023-02-24 101929709 ENSG00000251136 NR_125822 36284068 HGNC:10021 RIPK3 receptor interacting serine/threonine kinase 3 protein-coding gene gene with protein product Approved 14q12 14q12 RIP3 receptor-interacting serine-threonine kinase 3 1999-12-17 2015-11-17 2023-01-20 11035 ENSG00000129465 OTTHUMG00000029349 uc001wpb.4 AF156884 NM_006871 CCDS9628 Q9Y572 "10339433|10358032" MGI:2154952 RGD:628899 605817 objectId:2191 HGNC:10021 "ENST00000216274.10|NM_006871.4" HGNC:496 RIPK4 receptor interacting serine/threonine kinase 4 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "DIK|ANKK2|RIP4|PKK" "protein kinase C-associated kinase|PKC-delta-interacting protein kinase" ANKRD3 "ankyrin repeat domain 3|receptor-interacting serine-threonine kinase 4" "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2000-05-23 2004-07-06 2015-11-17 2023-01-20 54101 ENSG00000183421 OTTHUMG00000086770 uc002yzn.2 AJ278016 NM_020639 CCDS13675 P57078 10830953 MGI:1919638 RGD:1311691 605706 291802 objectId:2192 HGNC:496 "ENST00000332512.8|NM_020639.3" HGNC:496 -HGNC:25836 RIPOR1 RHO family interacting cell polarization regulator 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ13725 FAM65A family with sequence similarity 65 member A Armadillo like helical domain containing 1492 2005-04-26 2017-02-22 2017-02-22 2023-01-20 79567 ENSG00000039523 OTTHUMG00000137536 uc002eth.4 AK127792 NM_024519 "CCDS54027|CCDS54028|CCDS54026|CCDS92176|CCDS10840" Q6ZS17 11572484 MGI:1922937 RGD:1307772 619842 HGNC:25836 "ENST00000042381.9|NM_024519.4" -HGNC:13872 RIPOR2 RHO family interacting cell polarization regulator 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "KIAA0386|DIFF48|MYONAP" myogenesis-related and NCAM-associated protein homolog (chicken) "C6orf32|FAM65B" "chromosome 6 open reading frame 32|family with sequence similarity 65 member B" Armadillo like helical domain containing 1492 2001-01-03 2017-02-22 2017-02-22 2023-01-20 9750 ENSG00000111913 OTTHUMG00000191459 uc063mes.1 U49187 NM_001286445 "CCDS47383|CCDS75410|CCDS47384|CCDS69057|CCDS69058|CCDS87373" Q9Y4F9 "30280293|17150207|17825087" MGI:2444879 RGD:1306939 611410 410532 HGNC:13872 "ENST00000643898.2|NM_001286445.3" HGNC:13872 +HGNC:25836 RIPOR1 RHO family interacting cell polarization regulator 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ13725 FAM65A family with sequence similarity 65 member A Armadillo like helical domain containing 1492 2005-04-26 2017-02-22 2017-02-22 2023-01-20 79567 ENSG00000039523 OTTHUMG00000137536 uc002eth.4 AK127792 NM_024519 "CCDS54026|CCDS10840|CCDS92176|CCDS54028|CCDS54027" Q6ZS17 11572484 MGI:1922937 RGD:1307772 619842 HGNC:25836 "ENST00000042381.9|NM_024519.4" +HGNC:13872 RIPOR2 RHO family interacting cell polarization regulator 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "KIAA0386|DIFF48|MYONAP" myogenesis-related and NCAM-associated protein homolog (chicken) "C6orf32|FAM65B" "chromosome 6 open reading frame 32|family with sequence similarity 65 member B" Armadillo like helical domain containing 1492 2001-01-03 2017-02-22 2017-02-22 2023-01-20 9750 ENSG00000111913 OTTHUMG00000191459 uc063mes.1 U49187 NM_001286445 "CCDS47383|CCDS87373|CCDS47384|CCDS69057|CCDS75410|CCDS69058" Q9Y4F9 "30280293|17150207|17825087" MGI:2444879 RGD:1306939 611410 410532 HGNC:13872 "ENST00000643898.2|NM_001286445.3" HGNC:13872 HGNC:16168 RIPOR3 RIPOR family member 3 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "dJ530I15.2|dJ530I15.3" "C20orf175|C20orf176|FAM65C" "chromosome 20 open reading frame 175|chromosome 20 open reading frame 176|family with sequence similarity 65 member C" MicroRNA protein coding host genes 1691 2001-07-17 2017-02-22 2017-02-22 2023-01-20 140876 ENSG00000042062 OTTHUMG00000032724 uc010zyt.3 AL133230 NM_001290268 "CCDS93056|CCDS13431" Q96MK2 MGI:1916803 RGD:1587669 HGNC:16168 "ENST00000327979.8|NM_001290268.2" HGNC:40760 RIPOR3-AS1 RIPOR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Antisense RNAs 1987 2020-03-19 2020-03-19 100506175 ENSG00000234693 OTTHUMG00000032727 NR_111906 HGNC:25117 RIPPLY1 ripply transcriptional repressor 1 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 ripply1 homolog (zebrafish) 2007-08-16 2013-07-23 2023-01-20 92129 ENSG00000147223 OTTHUMG00000022153 uc004emr.3 NM_001171706 "CCDS55471|CCDS48145" Q0D2K3 MGI:3614797 RGD:1588264 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RIPPLY1 300575 HGNC:25117 "ENST00000276173.5|NM_138382.3" HGNC:25117 HGNC:21390 RIPPLY2 ripply transcriptional repressor 2 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 dJ237I15.1 C6orf159 "chromosome 6 open reading frame 159|ripply2 homolog (zebrafish)" 2003-11-26 2008-05-07 2013-07-23 2023-01-20 134701 ENSG00000203877 OTTHUMG00000015117 uc003pke.5 BC130460 NM_001009994 CCDS34493 Q5TAB7 MGI:2685968 RGD:1308746 609891 437793 HGNC:21390 "ENST00000369689.6|NM_001009994.3" HGNC:21390 HGNC:3047 RIPPLY3 ripply transcriptional repressor 3 protein-coding gene gene with protein product Approved 21q22.13 21q22.13 DSCR6 "Down syndrome critical region gene 6|ripply3 homolog (zebrafish)" 2000-05-25 2013-06-04 2013-07-23 2023-01-20 53820 ENSG00000183145 OTTHUMG00000086639 AB037158 NM_001317768 CCDS13648 P57055 "10814524|22354841" MGI:2181192 RGD:1308788 609892 HGNC:3047 "ENST00000329553.3|NM_018962.3" HGNC:23340 RIPPLY3P1 RIPPLY3 pseudogene 1 pseudogene pseudogene Approved 14q21.1 14q21.1 DSCR6P1 DSCR6 pseudogene 1 2010-09-30 2014-11-14 2014-11-14 2014-11-19 100421053 NG_027264 PGOHUM00000247774 HGNC:23340 -HGNC:10023 RIT1 Ras like without CAAX 1 protein-coding gene gene with protein product Approved 1q22 01q22 "RIBB|ROC1|MGC125864|MGC125865" "Ric-like, expressed in many tissues|GTP-binding protein Roc1" RIT Ric (Drosophila)-like, expressed in many tissues RAS type GTPase family 389 1996-08-28 2002-09-13 2016-05-04 2023-01-20 6016 ENSG00000143622 OTTHUMG00000014104 uc001fmh.3 AF084462 NM_006912 "CCDS58036|CCDS58037|CCDS1123" Q92963 "8824319|8918462" MGI:108053 RGD:1559874 LRG_1372|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1372.xml 609591 358630 HGNC:10023 "ENST00000368323.8|NM_006912.6" HGNC:10023 +HGNC:10023 RIT1 Ras like without CAAX 1 protein-coding gene gene with protein product Approved 1q22 01q22 "RIBB|ROC1|MGC125864|MGC125865" "Ric-like, expressed in many tissues|GTP-binding protein Roc1" RIT Ric (Drosophila)-like, expressed in many tissues RAS type GTPase family 389 1996-08-28 2002-09-13 2016-05-04 2023-01-20 6016 ENSG00000143622 OTTHUMG00000014104 uc001fmh.3 AF084462 NM_006912 "CCDS58037|CCDS1123|CCDS58036" Q92963 "8824319|8918462" MGI:108053 RGD:1559874 LRG_1372|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1372.xml 609591 358630 HGNC:10023 "ENST00000368323.8|NM_006912.6" HGNC:10023 HGNC:10017 RIT2 Ras like without CAAX 2 protein-coding gene gene with protein product Approved 18q12.3 18q12.3 RIBA RIN Ric (Drosophila)-like, expressed in neurons RAS type GTPase family 389 1996-08-28 2002-09-13 2016-05-04 2023-01-20 6014 ENSG00000152214 OTTHUMG00000132611 uc010dnf.5 BC018060 NM_002930 "CCDS62431|CCDS11921" Q99578 "8824319|8918462" MGI:108054 RGD:1307654 609592 HGNC:10017 "ENST00000326695.10|NM_002930.4" HGNC:25925 RITA1 RBPJ interacting and tubulin associated 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "FLJ14827|RITA" RBP-J interacting and tubulin associated C12orf52 chromosome 12 open reading frame 52 2006-01-24 2013-12-10 2013-12-10 2023-01-20 84934 ENSG00000139405 OTTHUMG00000169643 AY007158 NM_032848 "CCDS9166|CCDS66473" Q96K30 "21102556|24308154" MGI:1922021 RGD:1306772 HGNC:25925 "ENST00000548278.2|NM_032848.3" HGNC:10024 RLBP1 retinaldehyde binding protein 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 CRALBP retinaldehyde-binding protein 1 1991-05-15 2001-11-28 2023-01-20 6017 ENSG00000140522 OTTHUMG00000172884 uc002bnl.4 BC004199 NM_000326 CCDS32324 P12271 "1733864|9326942" MGI:97930 RGD:1309649 180090 118326 objectId:2545 HGNC:10024 "ENST00000268125.10|NM_000326.5" HGNC:10024 @@ -28323,7 +28326,7 @@ HGNC:10026 RLN1 relaxin 1 protein-coding gene gene with protein product Approved HGNC:10027 RLN2 relaxin 2 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "H2|RLXH2|bA12D24.1.1|bA12D24.1.2" "relaxin H2|prorelaxin H2|relaxin, ovarian, of pregnancy" relaxin 2 (H2) Neuropeptides 1902 2001-06-22 2004-11-15 2023-03-15 6019 ENSG00000107014 OTTHUMG00000019496 uc003zja.3 NM_134441 CCDS6460 P04090 "6548703|6548702" MGI:97931 179740 ligandId:3745 HGNC:10027 "ENST00000381627.4|NM_134441.3" HGNC:17135 RLN3 relaxin 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "ZINS4|RXN3|H3" prorelaxin H3 relaxin 3 (H3) Neuropeptides 1902 2001-11-16 2004-11-15 2023-01-20 117579 ENSG00000171136 OTTHUMG00000181986 uc002mxw.2 AF447451 NM_001311197 "CCDS82304|CCDS12302" Q8WXF3 MGI:2158015 RGD:628745 606855 ligandId:1997 HGNC:17135 "ENST00000431365.3|NM_080864.4" HGNC:24326 RMC1 regulator of MON1-CCZ1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "MIC1|HsT2591" colon cancer associated protein Mic1 "C18orf8|WDR98" "chromosome 18 open reading frame 8|WD repeat domain 98" WD repeat domain containing 362 2003-12-30 2017-11-27 2017-11-27 2023-01-20 29919 ENSG00000141452 OTTHUMG00000179239 uc021uie.3 AK057192 NM_013326 "CCDS82243|CCDS32803|CCDS74199" Q96DM3 29038162 MGI:1916528 RGD:1311805 620267 HGNC:24326 "ENST00000269221.8|NM_013326.5" -HGNC:24285 RMDN1 regulator of microtubule dynamics 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "CGI-90|FLJ20665|RMD1" FAM82B family with sequence similarity 82, member B 2005-07-27 2013-01-11 2013-01-11 2023-01-20 51115 ENSG00000176623 OTTHUMG00000163692 uc003ydu.4 AK000672 NM_016033 "CCDS69509|CCDS83305|CCDS34918|CCDS69510" Q96DB5 10810093 MGI:1913552 RGD:1563085 611871 HGNC:24285 "ENST00000406452.8|NM_016033.3" +HGNC:24285 RMDN1 regulator of microtubule dynamics 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "CGI-90|FLJ20665|RMD1" FAM82B family with sequence similarity 82, member B 2005-07-27 2013-01-11 2013-01-11 2023-01-20 51115 ENSG00000176623 OTTHUMG00000163692 uc003ydu.4 AK000672 NM_016033 "CCDS69510|CCDS83305|CCDS34918|CCDS69509" Q96DB5 10810093 MGI:1913552 RGD:1563085 611871 HGNC:24285 "ENST00000406452.8|NM_016033.3" HGNC:26567 RMDN2 regulator of microtubule dynamics 2 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "FLJ32954|RMD2" "FAM82A|FAM82A1" family with sequence similarity 82, member A1 2005-07-27 2013-01-11 2013-01-11 2023-01-20 151393 ENSG00000115841 OTTHUMG00000128487 uc002rql.4 AK057516 NM_144713 "CCDS1792|CCDS54352|CCDS54351" Q96LZ7 12477932 MGI:2147043 RGD:1559836 611872 HGNC:26567 "ENST00000354545.8|NM_001170791.3" HGNC:41150 RMDN2-AS1 RMDN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p22.2 02p22.2 Antisense RNAs 1987 2013-01-11 2014-11-19 101410544 ENSG00000235848 OTTHUMG00000152578 uc061iff.1 DB142860 NR_102712 RMDN2-AS1 HGNC:41150 HGNC:25550 RMDN3 regulator of microtubule dynamics 3 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "FLJ10579|PTPIP51|RMD3" "FAM82C|FAM82A2" family with sequence similarity 82, member A2 2005-07-27 2013-01-11 2013-01-11 2023-01-20 55177 ENSG00000137824 OTTHUMG00000130066 uc001zmq.2 AK001441 NM_018145 CCDS10063 Q96TC7 "12975309|28548902" MGI:1915059 RGD:1308697 611873 HGNC:25550 "ENST00000338376.8|NM_018145.3" @@ -29905,7 +29908,7 @@ HGNC:10047 RNASE4 ribonuclease A family member 4 protein-coding gene gene with p HGNC:10048 RNASE6 ribonuclease A family member k6 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "RAD1|RNaseK6" RNase k6 RNS6 ribonuclease, RNase A family, k6 Ribonuclease A family 723 1997-01-08 2016-01-20 2023-01-20 6039 ENSG00000169413 OTTHUMG00000029585 uc001vye.4 U64998 NM_005615 CCDS9558 Q93091 "8836175|9647635" MGI:1925666 RGD:1303020 601981 HGNC:10048 "ENST00000304677.3|NM_005615.5" HGNC:19278 RNASE7 ribonuclease A family member 7 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 RAE1 ribonuclease, RNase A family, 7 Ribonuclease A family 723 2003-02-14 2016-01-20 2023-01-20 84659 ENSG00000165799 OTTHUMG00000171358 uc001vzk.4 AJ131212 NM_032572 CCDS41914 Q9H1E1 "12244054|12527768" 612484 HGNC:19278 "ENST00000298690.5|NM_032572.4" HGNC:19277 RNASE8 ribonuclease A family member 8 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 RAE2 ribonuclease, RNase A family, 8 Ribonuclease A family 723 2003-02-14 2016-01-20 2023-01-20 122665 ENSG00000173431 OTTHUMG00000029645 uc010tlm.3 AF473854 NM_138331 CCDS9567 Q8TDE3 11861908 612485 HGNC:19277 "ENST00000308227.2|NM_138331.2" -HGNC:20673 RNASE9 ribonuclease A family member 9 (inactive) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "h461|RAK1" ribonuclease, RNase A family, 9 (non-active) Ribonuclease A family 723 2004-11-15 2016-01-20 2023-01-20 390443 ENSG00000188655 OTTHUMG00000170989 uc058yuf.1 AY665804 NM_001001673 "CCDS55904|CCDS53883" P60153 "15676279|12920233" MGI:3057273 RGD:1359501 614014 HGNC:20673 +HGNC:20673 RNASE9 ribonuclease A family member 9 (inactive) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "h461|RAK1" ribonuclease, RNase A family, 9 (non-active) Ribonuclease A family 723 2004-11-15 2016-01-20 2023-01-20 390443 ENSG00000188655 OTTHUMG00000170989 uc058yuf.1 AY665804 NM_001001673 "CCDS53883|CCDS55904" P60153 "15676279|12920233" MGI:3057273 RGD:1359501 614014 HGNC:20673 HGNC:19275 RNASE10 ribonuclease A family member 10 (inactive) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "RNASE9|RAH1" ribonuclease, RNase A family, 10 (non-active) Ribonuclease A family 723 2004-11-15 2016-01-20 2023-01-20 338879 ENSG00000182545 OTTHUMG00000170986 uc010tlj.3 NM_001012975 CCDS32035 Q5GAN6 "12920233|15676279" MGI:1922269 RGD:1310415 HGNC:19275 HGNC:19269 RNASE11 ribonuclease A family member 11 (inactive) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 RAJ1 C14orf6 "chromosome 14 open reading frame 6|ribonuclease, RNase A family, 11 (non-active)" Ribonuclease A family 723 2002-11-27 2004-11-18 2016-01-20 2023-01-20 122651 ENSG00000173464 OTTHUMG00000170990 uc058yui.1 BC025410 NM_145250 CCDS9553 Q8TAA1 15676279 MGI:3528583 RGD:1359723 HGNC:19269 HGNC:27381 RNASE11-AS1 RNASE11 and RNASE12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Antisense RNAs 1987 2022-01-31 2022-01-31 254028 ENSG00000258573 NR_122043 @@ -29930,7 +29933,7 @@ HGNC:18315 RND2 Rho family GTPase 2 protein-coding gene gene with protein produc HGNC:671 RND3 Rho family GTPase 3 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 "RhoE|Rho8" ARHE ras homolog gene family, member E Rho family GTPases 390 1997-04-16 2005-01-27 2005-01-24 2023-01-20 390 ENSG00000115963 OTTHUMG00000131859 uc002txg.4 NM_005168 CCDS2190 P61587 "8649376|26756630" MGI:1921444 RGD:1359690 602924 HGNC:671 "ENST00000263895.9|NM_005168.5" HGNC:10061 RNF2 ring finger protein 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "BAP-1|BAP1|DING|HIPI3|RING1B|RING2" Ring finger proteins 58 1997-06-09 2023-01-20 6045 ENSG00000121481 OTTHUMG00000035391 uc001grc.2 "BC012583|Y10571" NM_007212 CCDS1365 Q99496 11513855 MGI:1101759 RGD:1305491 608985 HGNC:10061 "ENST00000367510.8|NM_007212.4" HGNC:33987 RNF2P1 ring finger protein 2 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 RNF2P ring finger protein 2 pseudogene 2008-02-01 2010-03-05 2010-03-05 2014-11-19 100132467 ENSG00000231381 OTTHUMG00000019528 NG_008708 PGOHUM00000235958 HGNC:33987 -HGNC:10067 RNF4 ring finger protein 4 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "RES4-26|SNURF|SLX5" Ring finger proteins 58 1997-07-01 2023-01-20 6047 ENSG00000063978 OTTHUMG00000160516 uc003gfb.4 U95140 NM_002938 "CCDS47001|CCDS54713" P78317 9479498 MGI:1201691 RGD:3583 602850 HGNC:10067 "ENST00000314289.13|NM_002938.5" +HGNC:10067 RNF4 ring finger protein 4 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "RES4-26|SNURF|SLX5" Ring finger proteins 58 1997-07-01 2023-01-20 6047 ENSG00000063978 OTTHUMG00000160516 uc003gfb.4 U95140 NM_002938 "CCDS54713|CCDS47001" P78317 9479498 MGI:1201691 RGD:3583 602850 HGNC:10067 "ENST00000314289.13|NM_002938.5" HGNC:10068 RNF5 ring finger protein 5 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "NG2|G16|RING5|RMA1" ring finger protein 5, E3 ubiquitin protein ligase "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 1997-10-16 2016-04-05 2023-01-20 6048 ENSG00000204308 OTTHUMG00000031093 uc011ivg.3 U89336 NM_006913 CCDS4745 Q99942 9533025 MGI:1860076 RGD:1588458 602677 HGNC:10068 "ENST00000375094.4|NM_006913.4" HGNC:31053 RNF5P1 ring finger protein 5 pseudogene 1 pseudogene pseudogene Approved 8p11.22 08p11.22 ring finger protein 5, E3 ubiquitin protein ligase pseudogene 1 2005-03-31 2016-04-05 2017-10-30 286140 ENSG00000253570 OTTHUMG00000163988 NR_003129 PGOHUM00000303166 HGNC:31053 HGNC:10069 RNF6 ring finger protein 6 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 DKFZp686P0776 RING-H2 protein RNF-6 ring finger protein (C3H2C3 type) 6 Ring finger proteins 58 1998-08-26 2016-04-05 2023-03-15 6049 ENSG00000127870 OTTHUMG00000016614 uc001uqq.4 AJ010346 NM_005977 CCDS9316 Q9Y252 10331950 MGI:1921382 RGD:1306092 604242 HGNC:10069 "ENST00000381588.9|NM_005977.4" HGNC:10069 @@ -29945,14 +29948,14 @@ HGNC:33988 RNF11P1 ring finger protein 11 pseudogene 1 pseudogene pseudogene App HGNC:16535 RNF11P2 ring finger protein 11 pseudogene 2 pseudogene pseudogene Approved 20p12.1 20p12.1 bA280O9.1 RNF11B ring finger protein 11B, pseudogene 2001-09-17 2008-02-01 2008-02-01 2016-07-22 170543 ENSG00000227563 OTTHUMG00000031916 AL121582 NG_001052 PGOHUM00000296903 HGNC:16535 HGNC:10057 RNF13 ring finger protein 13 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 RZF Ring finger proteins 58 1999-10-19 2023-03-15 11342 ENSG00000082996 OTTHUMG00000150338 uc003exp.5 AF037204 NM_183381 "CCDS87154|CCDS3146" O43567 MGI:1346341 RGD:1594062 609247 HGNC:10057 "ENST00000392894.8|NM_183381.3" HGNC:10057 HGNC:56589 RNF13P1 RNF13 pseudogene 1 pseudogene pseudogene Approved 3q26.33 03q26.33 2022-11-03 2022-11-03 647253 ENSG00000242068 NG_007343 PGOHUM00000299287 -HGNC:10058 RNF14 ring finger protein 14 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "ARA54|HFB30|TRIAD2" "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 1999-12-14 2023-01-20 9604 ENSG00000013561 OTTHUMG00000129660 uc003llz.4 AF060544 NM_004290 "CCDS4270|CCDS4271" Q9UBS8 "10085091|10320776" MGI:1929668 RGD:1589576 605675 HGNC:10058 "ENST00000394520.7|NM_004290.5" +HGNC:10058 RNF14 ring finger protein 14 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "ARA54|HFB30|TRIAD2" "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 1999-12-14 2023-01-20 9604 ENSG00000013561 OTTHUMG00000129660 uc003llz.4 AF060544 NM_004290 "CCDS4271|CCDS4270" Q9UBS8 "10085091|10320776" MGI:1929668 RGD:1589576 605675 HGNC:10058 "ENST00000394520.7|NM_004290.5" HGNC:54669 RNF14P1 RNF14 pseudogene 1 pseudogene pseudogene Approved 2q22.1 02q22.1 2019-11-21 2019-11-21 100129375 ENSG00000232915 NG_021525 HGNC:54670 RNF14P2 RNF14 pseudogene 2 pseudogene pseudogene Approved 4q25 04q25 2019-11-21 2019-11-21 116435284 ENSG00000250594 NG_068490 HGNC:54671 RNF14P3 RNF14 pseudogene 3 pseudogene pseudogene Approved 7q22.1 07q22.1 2019-11-21 2019-11-21 100419643 ENSG00000238109 NG_026496 HGNC:54672 RNF14P4 RNF14 pseudogene 4 pseudogene pseudogene Approved 7q33 07q33 2019-11-21 2019-11-21 100419645 ENSG00000223500 NG_026626 HGNC:10060 RNF17 ring finger protein 17 protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "Mmip-2|SPATA23|FLJ11045" spermatogenesis associated 23 TDRD4 tudor domain containing 4 "Ring finger proteins|Tudor domain containing" "58|780" 2000-06-16 2023-03-15 56163 ENSG00000132972 OTTHUMG00000016589 uc001upr.4 "AF285602|AK001907" NM_031994 CCDS9308 Q9BXT8 11279525 MGI:1353419 RGD:1310486 605793 HGNC:10060 "ENST00000255324.10|NM_031277.3" HGNC:13432 RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "dorfin|DKFZp566B1346" RNF19 "ring finger protein 19|ring finger protein 19A|ring finger protein 19A, E3 ubiquitin protein ligase" "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2003-02-28 2007-08-20 2013-10-03 2023-01-20 25897 ENSG00000034677 OTTHUMG00000164707 uc064pac.1 AB029316 NM_015435 CCDS6286 Q9NV58 "11237715|10976766" MGI:1353623 RGD:1307807 607119 HGNC:13432 "ENST00000341084.7|NM_183419.4" -HGNC:26886 RNF19B ring finger protein 19B protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "FLJ90005|NKLAM" natural killer lytic-associated molecule IBRDC3 IBR domain containing 3 "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2004-03-02 2007-08-20 2007-08-20 2023-01-20 127544 ENSG00000116514 OTTHUMG00000004013 uc010oho.3 AK074486 NM_153341 "CCDS72754|CCDS44107|CCDS372" Q6ZMZ0 "10438909|33192571" MGI:1922484 RGD:1305470 610872 HGNC:26886 "ENST00000235150.5|NM_001300826.2" +HGNC:26886 RNF19B ring finger protein 19B protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "FLJ90005|NKLAM" natural killer lytic-associated molecule IBRDC3 IBR domain containing 3 "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2004-03-02 2007-08-20 2007-08-20 2023-01-20 127544 ENSG00000116514 OTTHUMG00000004013 uc010oho.3 AK074486 NM_153341 "CCDS44107|CCDS72754|CCDS372" Q6ZMZ0 "10438909|33192571" MGI:1922484 RGD:1305470 610872 HGNC:26886 "ENST00000235150.5|NM_001300826.2" HGNC:38484 RNF19BPX ring finger protein 19B pseudogene X-linked pseudogene pseudogene Approved Xq21.31 Xq21.31 RNF19BX 2010-05-11 2018-04-26 2020-05-22 100419788 ENSG00000227434 OTTHUMG00000040023 NG_022619 PGOHUM00000241439 HGNC:38484 HGNC:38398 RNF19BPY ring finger protein 19B pseudogene Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-05-11 2018-04-26 2018-04-26 100419722 ENSG00000225653 OTTHUMG00000036180 NG_021906 PGOHUM00000233666 HGNC:38398 HGNC:10062 RNF20 ring finger protein 20 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "FLJ20382|FLJ11189|KAIA2779|BRE1A|hBRE1|BRE1" BRE1 E3 ubiquitin ligase homolog (S. cerevisiae) Ring finger proteins 58 2000-05-23 2008-12-12 2015-11-27 2023-01-20 56254 ENSG00000155827 OTTHUMG00000020385 uc004bbn.5 AF265230 NM_019592 CCDS35084 Q5VTR2 "16337599|12876294|18832071|19037095" MGI:1925927 RGD:1311936 607699 470986 HGNC:10062 "ENST00000389120.8|NM_019592.7" @@ -29960,19 +29963,19 @@ HGNC:13779 RNF24 ring finger protein 24 protein-coding gene gene with protein pr HGNC:14662 RNF25 ring finger protein 25 protein-coding gene gene with protein product Approved 2q35 02q35 "AO7|FLJ13906" Ring finger proteins 58 2001-02-21 2023-01-20 64320 ENSG00000163481 OTTHUMG00000133077 uc002vit.4 NM_022453 CCDS2420 Q96BH1 12748188 MGI:1890215 RGD:1311557 616014 HGNC:14662 "ENST00000295704.7|NM_022453.3" HGNC:14646 RNF26 ring finger protein 26 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC2642 ring finger protein with leucine zipper Ring finger proteins 58 2001-02-21 2023-01-20 79102 ENSG00000173456 OTTHUMG00000166171 uc001pwh.4 AB055622 NM_032015 CCDS8419 Q9BY78 11352657 MGI:2388131 RGD:1305953 606130 HGNC:14646 "ENST00000311413.5|NM_032015.5" HGNC:16031 RNF31 ring finger protein 31 protein-coding gene gene with protein product Approved 14q12 14q12 "ZIBRA|FLJ10111|FLJ23501|HOIP|Paul" HOIL-1-interacting protein "Ring finger proteins|Zinc fingers RANBP2-type |Linear ubiquitin chain assembly complex |RBR E3 ubiquitin ligases" "58|89|1390|1391" 2003-09-29 2023-01-20 55072 ENSG00000092098 OTTHUMG00000028798 uc001wmn.2 AK000973 NM_017999 "CCDS81792|CCDS41931" Q96EP0 10422847 MGI:1934704 RGD:1305513 LRG_1315|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1315.xml 612487 432144 HGNC:16031 "ENST00000324103.11|NM_017999.5" HGNC:16031 -HGNC:17118 RNF32 ring finger protein 32 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "FKSG33|HSD15|LMBR2" Ring finger proteins 58 2001-12-10 2023-01-20 140545 ENSG00000105982 OTTHUMG00000151440 uc010lqm.4 NM_030936 "CCDS5944|CCDS78293|CCDS78292" Q9H0A6 11890671 MGI:1861747 RGD:1308287 610241 HGNC:17118 "ENST00000317955.10|NM_030936.4" +HGNC:17118 RNF32 ring finger protein 32 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "FKSG33|HSD15|LMBR2" Ring finger proteins 58 2001-12-10 2023-01-20 140545 ENSG00000105982 OTTHUMG00000151440 uc010lqm.4 NM_030936 "CCDS78292|CCDS5944|CCDS78293" Q9H0A6 11890671 MGI:1861747 RGD:1308287 610241 HGNC:17118 "ENST00000317955.10|NM_030936.4" HGNC:40798 RNF32-AS1 RNF32 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Antisense RNAs 1987 2020-03-19 2020-03-19 101927858 ENSG00000224903 OTTHUMG00000151509 HGNC:48971 RNF32-DT RNF32 divergent transcript non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 MY040 "C7orf13|LINC01006" "chromosome 7 open reading frame 13|long intergenic non-protein coding RNA 1006" Divergent transcripts 1990 2013-07-23 2021-10-11 2021-10-11 2021-10-11 100506380 ENSG00000182648 OTTHUMG00000157237 NR_026865 Q8NI28 610242 LINC01006 HGNC:48971 -HGNC:17297 RNF34 ring finger protein 34 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "RIFF|FLJ21786|RIF" ring finger protein 34, E3 ubiquitin protein ligase Ring finger proteins 58 2001-12-03 2016-03-11 2023-01-20 80196 ENSG00000170633 OTTHUMG00000171524 uc001uak.3 "AF306709|AB084914" NM_194271 "CCDS73538|CCDS31915|CCDS9221" Q969K3 12118383 MGI:2153340 RGD:628636 608299 HGNC:17297 "ENST00000361234.10|NM_025126.4" +HGNC:17297 RNF34 ring finger protein 34 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "RIFF|FLJ21786|RIF" ring finger protein 34, E3 ubiquitin protein ligase Ring finger proteins 58 2001-12-03 2016-03-11 2023-01-20 80196 ENSG00000170633 OTTHUMG00000171524 uc001uak.3 "AF306709|AB084914" NM_194271 "CCDS31915|CCDS9221|CCDS73538" Q969K3 12118383 MGI:2153340 RGD:628636 608299 HGNC:17297 "ENST00000361234.10|NM_025126.4" HGNC:18052 RNF38 ring finger protein 38 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 Ring finger proteins 58 2002-01-23 2023-03-15 152006 ENSG00000137075 OTTHUMG00000019905 uc003zzm.5 NM_022781 "CCDS6603|CCDS6604" Q9H0F5 MGI:1920719 RGD:621856 612488 HGNC:18052 "ENST00000259605.11|NM_022781.5" HGNC:18064 RNF39 ring finger protein 39 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "HZFw1|LIRF|FAP216" Ring finger proteins 58 2003-04-25 2023-01-20 80352 ENSG00000204618 OTTHUMG00000031288 uc003npe.4 AF238315 NM_170769 "CCDS4673|CCDS4674" Q9H2S5 "11130983|11716498" MGI:2156378 RGD:628854 607524 HGNC:18064 "ENST00000244360.8|NM_025236.4" -HGNC:16867 RNF40 ring finger protein 40 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "KIAA0661|RBP95|BRE1B|STARING" BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae) Ring finger proteins 58 2002-02-15 2016-03-22 2023-03-15 9810 ENSG00000103549 OTTHUMG00000132394 uc002dzq.4 AB014561 NM_014771 "CCDS10691|CCDS55994" O75150 "9734811|10944455|12121982" MGI:2142048 RGD:628638 607700 HGNC:16867 "ENST00000324685.11|NM_014771.4" -HGNC:18401 RNF41 ring finger protein 41 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "SBBI03|NRDP1" ring finger protein 41, E3 ubiquitin protein ligase Ring finger proteins 58 2003-05-21 2016-03-11 2023-01-20 10193 ENSG00000181852 OTTHUMG00000170328 uc001skf.3 AF077599 NM_005785 "CCDS8910|CCDS8909" Q9H4P4 MGI:1914838 RGD:1309557 620051 HGNC:18401 "ENST00000345093.9|NM_005785.4" +HGNC:16867 RNF40 ring finger protein 40 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "KIAA0661|RBP95|BRE1B|STARING" BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae) Ring finger proteins 58 2002-02-15 2016-03-22 2023-03-15 9810 ENSG00000103549 OTTHUMG00000132394 uc002dzq.4 AB014561 NM_014771 "CCDS55994|CCDS10691" O75150 "9734811|10944455|12121982" MGI:2142048 RGD:628638 607700 HGNC:16867 "ENST00000324685.11|NM_014771.4" +HGNC:18401 RNF41 ring finger protein 41 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "SBBI03|NRDP1" ring finger protein 41, E3 ubiquitin protein ligase Ring finger proteins 58 2003-05-21 2016-03-11 2023-01-20 10193 ENSG00000181852 OTTHUMG00000170328 uc001skf.3 AF077599 NM_005785 "CCDS8909|CCDS8910" Q9H4P4 MGI:1914838 RGD:1309557 620051 HGNC:18401 "ENST00000345093.9|NM_005785.4" HGNC:18505 RNF43 ring finger protein 43 protein-coding gene gene with protein product Approved 17q22 17q22 "FLJ20315|DKFZp781H0392|URCC" Ring finger proteins 58 2002-04-18 2023-01-20 54894 ENSG00000108375 OTTHUMG00000179077 uc002iwh.6 NM_017763 "CCDS11607|CCDS82172" Q68DV7 "15492824|22575959" MGI:2442609 RGD:1305204 LRG_1026|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1026.xml RNF43 612482 456689 HGNC:18505 "ENST00000407977.7|NM_017763.6" HGNC:18505 HGNC:19180 RNF44 ring finger protein 44 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 KIAA1100 Ring finger proteins 58 2002-09-02 2023-01-20 22838 ENSG00000146083 OTTHUMG00000130664 uc003mek.2 AB029023 NM_014901 CCDS4404 Q7L0R7 10470851 MGI:2145310 RGD:1307212 619283 470988 HGNC:19180 "ENST00000274811.9|NM_014901.5" HGNC:12859 RNF103 ring finger protein 103 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "hkf-1|KF1" ZFP103 zinc finger protein 103 homolog (mouse) Ring finger proteins 58 1998-10-30 2003-05-16 2003-05-14 2023-01-20 7844 ENSG00000239305 OTTHUMG00000153197 uc002srn.4 D76444 NM_005667 CCDS33237 O00237 9070305 MGI:109483 RGD:620586 602507 HGNC:12859 "ENST00000237455.5|NM_005667.4" HGNC:38847 RNF103-CHMP3 RNF103-CHMP3 readthrough other readthrough Approved 2p11.2 02p11.2 RNF103-VPS24 RNF103-VPS24 readthrough 2011-02-21 2011-10-20 2011-10-20 2023-03-15 100526767 ENSG00000249884 OTTHUMG00000160822 uc010ytl.3 NM_001198954.1 MGI:1913950 HGNC:38847 -HGNC:17384 RNF111 ring finger protein 111 protein-coding gene gene with protein product Approved 15q22.1-q22.2 15q22.1-q22.2 "ARK|Arkadia|FLJ38008|DKFZP761D081" Ring finger proteins 58 2003-05-14 2023-01-20 54778 ENSG00000157450 OTTHUMG00000132716 uc002afs.5 AL157474 NM_017610 "CCDS58366|CCDS10169|CCDS58365|CCDS81888" Q6ZNA4 11298452 MGI:1934919 RGD:1310097 605840 HGNC:17384 "ENST00000348370.9|NM_017610.8" +HGNC:17384 RNF111 ring finger protein 111 protein-coding gene gene with protein product Approved 15q22.1-q22.2 15q22.1-q22.2 "ARK|Arkadia|FLJ38008|DKFZP761D081" Ring finger proteins 58 2003-05-14 2023-01-20 54778 ENSG00000157450 OTTHUMG00000132716 uc002afs.5 AL157474 NM_017610 "CCDS58365|CCDS58366|CCDS81888|CCDS10169" Q6ZNA4 11298452 MGI:1934919 RGD:1310097 605840 HGNC:17384 "ENST00000348370.9|NM_017610.8" HGNC:12968 RNF112 ring finger protein 112 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 BFP neurolastin ZNF179 zinc finger protein 179 Ring finger proteins 58 1995-10-17 2008-06-13 2008-06-13 2023-01-20 7732 ENSG00000128482 OTTHUMG00000059601 uc010vyw.3 AF054587 NM_007148 CCDS58529 Q9ULX5 "8660987|9806830|26212327" MGI:106611 RGD:3986 601237 HGNC:12968 "ENST00000461366.2|NM_007148.5" HGNC:12974 RNF113A ring finger protein 113A protein-coding gene gene with protein product Approved Xq24 Xq24 "RNF113|Cwc24" ZNF183 zinc finger protein 183 (RING finger, C3HC4 type) "Ring finger proteins|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "58|1498|1508|1510|1516" 1996-10-18 2005-03-22 2005-03-22 2023-01-20 7737 ENSG00000125352 OTTHUMG00000022283 uc004esb.4 X98253 NM_006978 CCDS14589 O15541 9224902 MGI:1917192 RGD:1359693 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RNF113A 300951 430986 2.3.2.27 HGNC:12974 "ENST00000371442.4|NM_006978.3" HGNC:12974 HGNC:17267 RNF113B ring finger protein 113B protein-coding gene gene with protein product Approved 13q32.2 13q32.2 RNF161 ZNF183L1 zinc finger protein 183-like 1 Ring finger proteins 58 2001-12-07 2005-03-22 2005-03-22 2023-01-20 140432 ENSG00000139797 OTTHUMG00000017245 uc001vnk.4 AF539427 NM_178861 CCDS9486 Q8IZP6 HGNC:17267 "ENST00000267291.7|NM_178861.5" @@ -29987,7 +29990,7 @@ HGNC:30340 RNF126P1 ring finger protein 126 pseudogene 1 pseudogene pseudogene A HGNC:21153 RNF128 ring finger protein 128 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "FLJ23516|GRAIL" ring finger protein 128, E3 ubiquitin protein ligase Ring finger proteins 58 2003-05-21 2019-02-28 2023-01-20 79589 ENSG00000133135 OTTHUMG00000022151 uc004eml.4 AK027169 NM_024539 "CCDS14521|CCDS14520" Q8TEB7 MGI:1914139 RGD:1566282 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RNF128 300439 HGNC:21153 "ENST00000255499.3|NM_194463.2" HGNC:18280 RNF130 ring finger protein 130 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "GP|G1RZFP|GOLIATH" "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2003-05-21 2023-01-20 55819 ENSG00000113269 OTTHUMG00000130909 uc003mll.2 AF155650 NM_018434 "CCDS64340|CCDS93841|CCDS4451" Q86XS8 10806348 MGI:1891717 RGD:1562041 619163 HGNC:18280 "ENST00000521389.6|NM_018434.6" HGNC:21154 RNF133 ring finger protein 133 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 Ring finger proteins 58 2003-05-21 2023-01-20 168433 ENSG00000188050 OTTHUMG00000157092 uc003vkj.2 AF447589 NM_139175 CCDS5784 Q8WVZ7 MGI:2677436 RGD:1596695 HGNC:21154 "ENST00000340112.3|NM_139175.2" -HGNC:21158 RNF135 ring finger protein 135 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 MGC13061 riplet Ring finger proteins 58 2003-05-21 2023-01-20 84282 ENSG00000181481 OTTHUMG00000132867 uc002hfz.4 AJ496729 NM_032322 "CCDS54104|CCDS11262|CCDS11263" Q8IUD6 "11468690|19017631" MGI:1919206 RGD:1305252 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RNF135 611358 140074 HGNC:21158 "ENST00000328381.10|NM_032322.4" HGNC:21158 +HGNC:21158 RNF135 ring finger protein 135 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 MGC13061 riplet Ring finger proteins 58 2003-05-21 2023-01-20 84282 ENSG00000181481 OTTHUMG00000132867 uc002hfz.4 AJ496729 NM_032322 "CCDS11263|CCDS11262|CCDS54104" Q8IUD6 "11468690|19017631" MGI:1919206 RGD:1305252 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RNF135 611358 140074 HGNC:21158 "ENST00000328381.10|NM_032322.4" HGNC:21158 HGNC:17765 RNF138 ring finger protein 138 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "STRIN|NARF" nemo-like kinase associated ring finger protein ring finger protein 138, E3 ubiquitin protein ligase Ring finger proteins 58 2003-05-21 2016-04-05 2023-01-20 51444 ENSG00000134758 OTTHUMG00000132265 uc002kxg.3 AF162680 NM_016271 "CCDS11903|CCDS11904" Q8WVD3 "22155992|16714285" MGI:1929211 RGD:621485 616319 HGNC:17765 "ENST00000261593.8|NM_016271.5" HGNC:30342 RNF138P1 ring finger protein 138 pseudogene 1 pseudogene pseudogene Approved 5q11.2 05q11.2 ring finger protein 138, E3 ubiquitin protein ligase pseudogene 1 2004-04-22 2016-04-05 2016-04-05 379013 ENSG00000250853 OTTHUMG00000162239 AC025777 NR_001575 12477932 PGOHUM00000235223 HGNC:30342 HGNC:50775 RNF138P2 ring finger protein 138 pseudogene 2 pseudogene pseudogene Approved 7p12.1 07p12.1 ring finger protein 138, E3 ubiquitin protein ligase pseudogene 2 2014-06-18 2016-04-05 2016-04-05 100419777 ENSG00000271194 OTTHUMG00000184469 NG_026566 PGOHUM00000263179 HGNC:50775 @@ -29996,21 +29999,21 @@ HGNC:48940 RNF139-DT RNF139 divergent transcript non-coding RNA RNA, long non-co HGNC:21159 RNF141 ring finger protein 141 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "ZFP26|ZNF230" Ring finger proteins 58 2003-05-21 2023-01-20 50862 ENSG00000110315 OTTHUMG00000165712 uc001mis.2 AF214680 NM_016422 CCDS7803 Q8WVD5 11672448 MGI:1914400 RGD:1303154 616641 HGNC:21159 "ENST00000265981.7|NM_016422.4" HGNC:20457 RNF144A ring finger protein 144A protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "UBCE7IP4|KIAA0161|hUIP4" RNF144 ring finger protein 144 "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2003-02-18 2007-08-20 2007-08-20 2023-01-20 9781 ENSG00000151692 OTTHUMG00000090353 uc002qys.4 D79983 NM_014746 CCDS1657 P50876 "8724849|10431818" MGI:1344401 RGD:1561737 619454 HGNC:20457 "ENST00000320892.11|NM_014746.6" HGNC:21578 RNF144B ring finger protein 144B protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "bA528A10.3|P53RFP" IBRDC2 IBR domain containing 2 "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2003-06-25 2007-08-20 2009-01-05 2023-01-20 255488 ENSG00000137393 OTTHUMG00000014322 uc003ncs.3 AK096832 NM_182757 CCDS34345 Q7Z419 MGI:2384986 RGD:1308856 618869 HGNC:21578 "ENST00000259939.4|NM_182757.4" -HGNC:20853 RNF145 ring finger protein 145 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 FLJ31951 Ring finger proteins 58 2003-05-08 2023-01-20 153830 ENSG00000145860 OTTHUMG00000130306 uc010jiq.3 BC042684 NM_144726 "CCDS56393|CCDS4344|CCDS56392|CCDS56391|CCDS56390" Q96MT1 MGI:1921565 RGD:1309561 HGNC:20853 "ENST00000424310.7|NM_001199383.2" +HGNC:20853 RNF145 ring finger protein 145 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 FLJ31951 Ring finger proteins 58 2003-05-08 2023-01-20 153830 ENSG00000145860 OTTHUMG00000130306 uc010jiq.3 BC042684 NM_144726 "CCDS4344|CCDS56393|CCDS56391|CCDS56392|CCDS56390" Q96MT1 MGI:1921565 RGD:1309561 HGNC:20853 "ENST00000424310.7|NM_001199383.2" HGNC:21336 RNF146 ring finger protein 146 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 "DKFZp434O1427|dactylidin|dJ351K20.1" Ring finger proteins 58 2003-11-26 2023-01-20 81847 ENSG00000118518 OTTHUMG00000015522 uc003qav.4 AK027558 NM_030963 "CCDS5136|CCDS56449" Q9NTX7 MGI:1915281 RGD:1306482 612137 HGNC:21336 "ENST00000368314.6|NM_001242850.2" HGNC:22411 RNF148 ring finger protein 148 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 MGC35222 Ring finger proteins 58 2003-10-24 2023-01-20 378925 ENSG00000235631 OTTHUMG00000157099 uc003vkk.2 BC029264 NM_198085 CCDS47692 Q8N7C7 8744354 MGI:1918550 RGD:1595417 HGNC:22411 "ENST00000434824.2|NM_198085.2" HGNC:23137 RNF149 ring finger protein 149 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 FLJ90504 Ring finger proteins 58 2003-10-24 2023-01-20 284996 ENSG00000163162 OTTHUMG00000130685 uc002taz.3 AK074985 NM_173647 CCDS2051 Q8NC42 MGI:2677438 RGD:1308460 HGNC:23137 "ENST00000295317.4|NM_173647.4" HGNC:23138 RNF150 ring finger protein 150 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 KIAA1214 Ring finger proteins 58 2003-10-24 2023-01-20 57484 ENSG00000170153 OTTHUMG00000161380 uc062zuo.1 AB033040 NM_020724 CCDS34065 Q9ULK6 10574462 MGI:2443860 RGD:1304572 HGNC:23138 "ENST00000515673.7|NM_020724.2" -HGNC:23235 RNF151 ring finger protein 151 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Ring finger proteins|Zinc fingers TRAF-type" "58|2139" 2003-10-24 2023-01-20 146310 ENSG00000179580 OTTHUMG00000176852 uc002cnt.1 BC029501 NM_174903 "CCDS58405|CCDS86495" Q2KHN1 17577571 MGI:1914754 RGD:1309302 HGNC:23235 "ENST00000569714.6|NM_174903.6" +HGNC:23235 RNF151 ring finger protein 151 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Ring finger proteins|Zinc fingers TRAF-type" "58|2139" 2003-10-24 2023-01-20 146310 ENSG00000179580 OTTHUMG00000176852 uc002cnt.1 BC029501 NM_174903 "CCDS86495|CCDS58405" Q2KHN1 17577571 MGI:1914754 RGD:1309302 HGNC:23235 "ENST00000569714.6|NM_174903.6" HGNC:26811 RNF152 ring finger protein 152 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 FLJ39176 Ring finger proteins 58 2003-12-15 2023-01-20 220441 ENSG00000176641 OTTHUMG00000132774 uc002lih.2 AK096495 NM_173557 CCDS11978 Q8N8N0 MGI:2443787 RGD:1305251 616512 HGNC:26811 "ENST00000312828.4|NM_173557.3" HGNC:49743 RNF152P1 ring finger protein 152 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 2014-02-13 2014-02-13 100419687 ENSG00000214190 OTTHUMG00000019499 NG_023780 PGOHUM00000235955 HGNC:49743 HGNC:29402 RNF157 ring finger protein 157 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA1917 Ring finger proteins 58 2004-02-27 2023-01-20 114804 ENSG00000141576 OTTHUMG00000132627 uc002jqz.4 AK091467 NM_052916 "CCDS32740|CCDS82208" Q96PX1 11572484 MGI:2442484 RGD:1591154 HGNC:29402 "ENST00000269391.11|NM_052916.3" HGNC:44127 RNF157-AS1 RNF157 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 RNF157 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507218 ENSG00000267128 AK093500 NR_040017 RNF157-AS1 HGNC:44127 -HGNC:28856 RNF166 ring finger protein 166 protein-coding gene gene with protein product Approved 16q24.2-q24.3 16q24.2-q24.3 "MGC2647|MGC14381" Ring finger proteins 58 2004-06-04 2023-01-20 115992 ENSG00000158717 OTTHUMG00000137863 uc002flk.3 AK057106 NM_178841 "CCDS54056|CCDS54057|CCDS10969" Q96A37 27880896 MGI:1915968 RGD:1302950 617178 HGNC:28856 "ENST00000312838.9|NM_178841.4" +HGNC:28856 RNF166 ring finger protein 166 protein-coding gene gene with protein product Approved 16q24.2-q24.3 16q24.2-q24.3 "MGC2647|MGC14381" Ring finger proteins 58 2004-06-04 2023-01-20 115992 ENSG00000158717 OTTHUMG00000137863 uc002flk.3 AK057106 NM_178841 "CCDS54057|CCDS54056|CCDS10969" Q96A37 27880896 MGI:1915968 RGD:1302950 617178 HGNC:28856 "ENST00000312838.9|NM_178841.4" HGNC:24544 RNF167 ring finger protein 167 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 DKFZP566H073 Ring finger proteins 58 2004-07-29 2023-01-20 26001 ENSG00000108523 OTTHUMG00000099397 uc059zxj.1 AL050060 NM_015528 "CCDS82040|CCDS11060" Q9H6Y7 "23129617|23353890" MGI:1917760 RGD:1305972 610431 HGNC:24544 "ENST00000262482.11|NM_015528.3" HGNC:26661 RNF168 ring finger protein 168 protein-coding gene gene with protein product Approved 3q29 03q29 FLJ35794 ring finger protein 168, E3 ubiquitin protein ligase Ring finger proteins 58 2005-01-25 2016-04-04 2023-01-20 165918 ENSG00000163961 OTTHUMG00000155582 uc003fwq.4 AK054732 NM_152617 CCDS3317 Q8IYW5 "19203579|29403037" MGI:1917488 RGD:1585168 LRG_185|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_185.xml 612688 432037 HGNC:26661 "ENST00000318037.3|NM_152617.4" HGNC:26661 HGNC:26961 RNF169 ring finger protein 169 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 KIAA1991 Ring finger proteins 58 2005-09-13 2023-01-20 254225 ENSG00000166439 OTTHUMG00000165516 uc001ovl.4 AB082522 NM_001098638 CCDS41691 Q8NCN4 12056414 MGI:1920257 RGD:1583288 618650 HGNC:26961 "ENST00000299563.5|NM_001098638.2" -HGNC:25358 RNF170 ring finger protein 170 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "DKFZP564A022|ADSA" SNAX1 sensory ataxia 1 (autosomal dominant) "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2005-01-26 2023-01-20 81790 ENSG00000120925 OTTHUMG00000165277 uc003xpo.4 AL136620 NM_030954 "CCDS55229|CCDS6138|CCDS55230" Q96K19 "11230166|21115467" MGI:1924983 RGD:1590842 614649 470984 HGNC:25358 "ENST00000527424.6|NM_030954.4" +HGNC:25358 RNF170 ring finger protein 170 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "DKFZP564A022|ADSA" SNAX1 sensory ataxia 1 (autosomal dominant) "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2005-01-26 2023-01-20 81790 ENSG00000120925 OTTHUMG00000165277 uc003xpo.4 AL136620 NM_030954 "CCDS6138|CCDS55229|CCDS55230" Q96K19 "11230166|21115467" MGI:1924983 RGD:1590842 614649 470984 HGNC:25358 "ENST00000527424.6|NM_030954.4" HGNC:27735 RNF175 ring finger protein 175 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 FLJ34190 Ring finger proteins 58 2005-01-26 2023-01-20 285533 ENSG00000145428 OTTHUMG00000161557 uc003int.4 BC034385 NM_173662 CCDS47149 Q8N4F7 HGNC:27735 "ENST00000347063.9|NM_173662.4" HGNC:27752 RNF180 ring finger protein 180 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 Ring finger proteins 58 2005-01-26 2023-01-20 285671 ENSG00000164197 OTTHUMG00000162278 uc003jti.4 AK090756 NM_178532 "CCDS47219|CCDS34169" Q86T96 MGI:1919066 RGD:1595064 616015 HGNC:27752 "ENST00000389100.9|NM_001113561.2" HGNC:28037 RNF181 ring finger protein 181 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 HSPC238 Ring finger proteins 58 2007-06-19 2023-01-20 51255 ENSG00000168894 OTTHUMG00000130182 uc002spv.2 AF151072 NM_016494 CCDS1981 Q9P0P0 11042152 MGI:1913760 RGD:1359698 612490 HGNC:28037 "ENST00000306368.9|NM_016494.4" @@ -30019,21 +30022,21 @@ HGNC:28721 RNF183 ring finger protein 183 protein-coding gene gene with protein HGNC:26783 RNF185 ring finger protein 185 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 FLJ38628 hypothetical protein FLJ38628 Ring finger proteins 58 2005-03-31 2023-03-15 91445 ENSG00000138942 OTTHUMG00000151253 uc003akb.4 NM_152267 "CCDS46689|CCDS13890" Q96GF1 21931693 MGI:1922078 RGD:1564777 620096 HGNC:26783 "ENST00000326132.11|NM_152267.4" HGNC:41161 RNF185-AS1 RNF185 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 RNF185 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2022-07-06 100852405 ENSG00000254835 OTTHUMG00000166845 uc003akf.2 35324519 RNF185-AS1 HGNC:25978 RNF186 ring finger protein 186 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 FLJ20225 hypothetical protein FLJ20225 Ring finger proteins 58 2005-03-31 2023-01-20 54546 ENSG00000178828 OTTHUMG00000002709 uc001bcr.3 NM_019062 CCDS199 Q9NXI6 "23896122|27503255" MGI:1914075 RGD:1596075 617163 HGNC:25978 "ENST00000375121.4|NM_019062.2" -HGNC:41127 RNF186-AS1 RNF186 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Antisense RNAs 1987 2021-07-01 2021-07-01 121847981 ENSG00000235434 OTTHUMG00000002710 +HGNC:41127 RNF186-AS1 RNF186 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Antisense RNAs 1987 2021-07-01 2021-07-01 121847981 ENSG00000235434 OTTHUMG00000002710 NR_186008 HGNC:27146 RNF187 ring finger protein 187 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "RACO1|RACO-1" ring domain AP-1 co-activator 1 Ring finger proteins 58 2005-06-03 2005-08-09 2023-01-20 149603 ENSG00000168159 OTTHUMG00000040043 uc057qfa.1 BC008022 NM_001010858 CCDS76271 Q5TA31 27259582 MGI:1914224 RGD:1308636 613754 HGNC:27146 "ENST00000305943.9|NM_001010858.3" HGNC:32947 RNF207 ring finger protein 207 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "FLJ46380|FLJ32096" OTTHUMG00000001089 C1orf188 chromosome 1 open reading frame 188 Ring finger proteins 58 2006-07-04 2023-01-20 388591 ENSG00000158286 OTTHUMG00000001089 uc001amg.4 AK128246 NM_207396 CCDS59 Q6ZRF8 MGI:2684989 RGD:1586262 616923 HGNC:32947 "ENST00000377939.5|NM_207396.3" HGNC:32947 HGNC:41286 RNF207-AS1 RNF207 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.31 01p36.31 Antisense RNAs 1987 2020-03-19 2020-03-19 102724450 ENSG00000226944 OTTHUMG00000041452 NR_125997 HGNC:25420 RNF208 ring finger protein 208 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 DKFZP761H1710 Ring finger proteins 58 2007-01-19 2023-01-20 727800 ENSG00000212864 OTTHUMG00000131782 uc064xks.1 AF416715 NM_031297 CCDS7037 Q9H0X6 11230166 MGI:1916096 RGD:1565957 618993 HGNC:25420 "ENST00000391553.3|NM_031297.7" -HGNC:27729 RNF212 ring finger protein 212 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ38841 LOC285498 hypothetical protein LOC285498 Ring finger proteins 58 2007-01-19 2007-01-19 2023-01-20 285498 ENSG00000178222 OTTHUMG00000118997 uc003gci.4 AK096160 NM_194439 "CCDS46996|CCDS93460|CCDS54704|CCDS3345" Q495C1 23396135 MGI:3645767 RGD:1588767 612041 HGNC:27729 "ENST00000433731.7|NM_001131034.4" +HGNC:27729 RNF212 ring finger protein 212 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ38841 LOC285498 hypothetical protein LOC285498 Ring finger proteins 58 2007-01-19 2007-01-19 2023-01-20 285498 ENSG00000178222 OTTHUMG00000118997 uc003gci.4 AK096160 NM_194439 "CCDS46996|CCDS3345|CCDS54704|CCDS93460" Q495C1 23396135 MGI:3645767 RGD:1588767 612041 HGNC:27729 "ENST00000433731.7|NM_001131034.4" HGNC:20438 RNF212B ring finger protein 212B protein-coding gene gene with protein product Approved 14q11.2 14q11.2 C14orf164 chromosome 14 open reading frame 164 Ring finger proteins 58 2003-09-25 2014-06-05 2014-06-05 2023-01-20 100507650 ENSG00000215277 OTTHUMG00000149918 NM_001282322 CCDS61401 A8MTL3 MGI:5589964 RGD:7500178 HGNC:20438 "ENST00000430154.7|NM_001282322.3" -HGNC:14539 RNF213 ring finger protein 213 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1554|NET57|ALO17" "mysterin|ALK lymphoma oligomerization partner on chromosome 17" "C17orf27|KIAA1618|MYMY2" "chromosome 17 open reading frame 27|KIAA1618|Moyamoya disease 2" Ring finger proteins 58 2001-03-05 2007-02-08 2007-02-08 2023-01-20 57674 ENSG00000173821 OTTHUMG00000161415 uc021uen.3 AK074030 NM_020914 "CCDS11772|CCDS32761|CCDS58606" Q63HN8 "10997877|21048783|21799892" MGI:1289196 RGD:1308168 RNF213 613768 260602 HGNC:14539 "ENST00000582970.6|NM_001256071.3" HGNC:14539 +HGNC:14539 RNF213 ring finger protein 213 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1554|NET57|ALO17" "mysterin|ALK lymphoma oligomerization partner on chromosome 17" "C17orf27|KIAA1618|MYMY2" "chromosome 17 open reading frame 27|KIAA1618|Moyamoya disease 2" Ring finger proteins 58 2001-03-05 2007-02-08 2007-02-08 2023-01-20 57674 ENSG00000173821 OTTHUMG00000161415 uc021uen.3 AK074030 NM_020914 "CCDS58606|CCDS32761|CCDS11772" Q63HN8 "10997877|21048783|21799892" MGI:1289196 RGD:1308168 RNF213 613768 260602 HGNC:14539 "ENST00000582970.6|NM_001256071.3" HGNC:14539 HGNC:54402 RNF213-AS1 RNF213 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Antisense RNAs 1987 2019-06-21 2019-06-21 100294362 ENSG00000263069 NR_029376 HGNC:54402 -HGNC:25335 RNF214 ring finger protein 214 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 DKFZp547C195 Ring finger proteins 58 2007-02-16 2007-02-16 2023-01-20 257160 ENSG00000167257 OTTHUMG00000167069 uc001pqt.5 AL834448 NM_001077239 "CCDS60976|CCDS41720" Q8ND24 MGI:2444451 RGD:1307500 HGNC:25335 "ENST00000300650.9|NM_207343.4" +HGNC:25335 RNF214 ring finger protein 214 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 DKFZp547C195 Ring finger proteins 58 2007-02-16 2007-02-16 2023-01-20 257160 ENSG00000167257 OTTHUMG00000167069 uc001pqt.5 AL834448 NM_001077239 "CCDS41720|CCDS60976" Q8ND24 MGI:2444451 RGD:1307500 HGNC:25335 "ENST00000300650.9|NM_207343.4" HGNC:33434 RNF215 ring finger protein 215 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 Ring finger proteins 58 2007-04-12 2023-01-20 200312 ENSG00000099999 OTTHUMG00000151016 uc003ahp.4 NM_001017981 CCDS33633 Q9Y6U7 MGI:1918923 RGD:1310738 HGNC:33434 "ENST00000382363.8|NM_001017981.2" -HGNC:21698 RNF216 ring finger protein 216 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "TRIAD3|UBCE7IP1|ZIN" "Ring finger proteins|RBR E3 ubiquitin ligases|MicroRNA protein coding host genes" "58|1391|1691" 2007-08-20 2007-08-20 2023-01-20 54476 ENSG00000011275 OTTHUMG00000155500 uc003sox.3 AY062174 NM_207111 "CCDS34594|CCDS34595" Q9NWF9 "11854271|15107846|25484083" MGI:1344349 RGD:1565135 609948 357214 HGNC:21698 "ENST00000389902.8|NM_207111.4" HGNC:21698 +HGNC:21698 RNF216 ring finger protein 216 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "TRIAD3|UBCE7IP1|ZIN" "Ring finger proteins|RBR E3 ubiquitin ligases|MicroRNA protein coding host genes" "58|1391|1691" 2007-08-20 2007-08-20 2023-01-20 54476 ENSG00000011275 OTTHUMG00000155500 uc003sox.3 AY062174 NM_207111 "CCDS34595|CCDS34594" Q9NWF9 "11854271|15107846|25484083" MGI:1344349 RGD:1565135 609948 357214 HGNC:21698 "ENST00000389902.8|NM_207111.4" HGNC:21698 HGNC:41463 RNF216-IT1 RNF216 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 7p22.1 07p22.1 RNF216 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874342 ENSG00000237738 OTTHUMG00000155498 uc031swm.1 NR_046834 RNF216-IT1 HGNC:41463 HGNC:33610 RNF216P1 ring finger protein 216 pseudogene 1 pseudogene pseudogene Approved 7p22.1 07p22.1 RNF216L ring finger protein 216-like 2007-08-20 2011-09-15 2011-09-15 2014-11-18 441191 ENSG00000196204 OTTHUMG00000151797 AK124529 XM_001126561 Q6NUR6 PGOHUM00000260295 HGNC:33610 -HGNC:21487 RNF217 ring finger protein 217 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "MGC26996|dJ84N20.1" "C6orf172|IBRDC1" "chromosome 6 open reading frame 172|IBR domain containing 1" "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2003-06-17 2007-08-20 2007-08-20 2023-01-20 154214 ENSG00000146373 OTTHUMG00000015504 uc003pzr.5 BC026087 NM_152553 "CCDS69191|CCDS5129" Q8TC41 25298122 MGI:3610311 RGD:1306836 618592 HGNC:21487 "ENST00000521654.7|NM_001286398.3" +HGNC:21487 RNF217 ring finger protein 217 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "MGC26996|dJ84N20.1" "C6orf172|IBRDC1" "chromosome 6 open reading frame 172|IBR domain containing 1" "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2003-06-17 2007-08-20 2007-08-20 2023-01-20 154214 ENSG00000146373 OTTHUMG00000015504 uc003pzr.5 BC026087 NM_152553 "CCDS5129|CCDS69191" Q8TC41 25298122 MGI:3610311 RGD:1306836 618592 HGNC:21487 "ENST00000521654.7|NM_001286398.3" HGNC:50866 RNF217-AS1 RNF217 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 6q22.31 06q22.31 STL six-twelve leukemia Antisense RNAs 1987 2014-07-10 2014-07-15 7955 ENSG00000236548 OTTHUMG00000015501 NR_026876 9087565 602532 RNF217-AS1 HGNC:50866 HGNC:25552 RNF220 ring finger protein 220 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 FLJ10597 C1orf164 chromosome 1 open reading frame 164 "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2005-07-18 2008-06-13 2008-06-13 2023-01-20 55182 ENSG00000187147 OTTHUMG00000007697 uc001clw.2 AK056424 NM_018150 CCDS510 Q5VTB9 11042152 MGI:1913993 RGD:1598210 616136 HGNC:25552 "ENST00000361799.7|NM_018150.4" HGNC:34517 RNF222 ring finger protein 222 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 Ring finger proteins 58 2008-08-14 2023-01-20 643904 ENSG00000189051 OTTHUMG00000132049 uc010vuy.2 NM_001146684.2 CCDS45608 A6NCQ9 MGI:2443227 RGD:1310573 HGNC:34517 "ENST00000399398.3|NM_001146684.3" @@ -30046,18 +30049,18 @@ HGNC:51346 RNFT1-DT RNFT1 divergent transcript non-coding RNA RNA, long non-codi HGNC:44387 RNFT1P1 ring finger protein, transmembrane 1 pseudogene 1 pseudogene pseudogene Approved 2p24.1 02p24.1 2012-09-17 2012-09-17 100420886 NG_021212 PGOHUM00000239983 HGNC:44387 HGNC:44388 RNFT1P2 ring finger protein, transmembrane 1 pseudogene 2 pseudogene pseudogene Approved 1p31.1 01p31.1 2012-09-17 2012-09-17 100132264 ENSG00000233333 OTTHUMG00000041117 NG_022725 PGOHUM00000244076 HGNC:44388 HGNC:44389 RNFT1P3 ring finger protein, transmembrane 1 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2012-09-17 2012-09-17 101929203 ENSG00000187870 OTTHUMG00000059553 NG_046381 PGOHUM00000259168 HGNC:44389 -HGNC:25905 RNFT2 ring finger protein, transmembrane 2 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 FLJ14627 TMEM118 transmembrane protein 118 Ring finger proteins 58 2006-01-23 2008-02-26 2008-02-26 2023-01-20 84900 ENSG00000135119 OTTHUMG00000150882 uc009zwn.4 AK027533 NM_032814 "CCDS9180|CCDS44987" Q96EX2 31990690 MGI:2442859 RGD:1560195 620254 HGNC:25905 "ENST00000257575.9|NM_001382266.1" -HGNC:10073 RNGTT RNA guanylyltransferase and 5'-phosphatase protein-coding gene gene with protein product Approved 6q15 06q15 "HCE|HCE1|hCAP" Atypical dual specificity phosphatases 896 1998-09-22 2023-01-20 8732 ENSG00000111880 OTTHUMG00000015190 uc003pmr.4 AF025654 NM_003800 "CCDS69153|CCDS5017" O60942 "9828141|9512541" MGI:1329041 RGD:1311410 603512 "2.7.7.50|3.1.3.33" HGNC:10073 "ENST00000369485.9|NM_003800.5" +HGNC:25905 RNFT2 ring finger protein, transmembrane 2 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 FLJ14627 TMEM118 transmembrane protein 118 Ring finger proteins 58 2006-01-23 2008-02-26 2008-02-26 2023-01-20 84900 ENSG00000135119 OTTHUMG00000150882 uc009zwn.4 AK027533 NM_032814 "CCDS44987|CCDS9180" Q96EX2 31990690 MGI:2442859 RGD:1560195 620254 HGNC:25905 "ENST00000257575.9|NM_001382266.1" +HGNC:10073 RNGTT RNA guanylyltransferase and 5'-phosphatase protein-coding gene gene with protein product Approved 6q15 06q15 "HCE|HCE1|hCAP" Atypical dual specificity phosphatases 896 1998-09-22 2023-01-20 8732 ENSG00000111880 OTTHUMG00000015190 uc003pmr.4 AF025654 NM_003800 "CCDS5017|CCDS69153" O60942 "9828141|9512541" MGI:1329041 RGD:1311410 603512 "2.7.7.50|3.1.3.33" HGNC:10073 "ENST00000369485.9|NM_003800.5" HGNC:39652 RNGTTP1 RNA guanylyltransferase and 5'-phosphatase pseudogene 1 pseudogene pseudogene Approved 21q21.3 21q21.3 2011-03-18 2011-03-18 100421428 ENSG00000237731 OTTHUMG00000155486 NG_025063 PGOHUM00000239158 HGNC:39652 HGNC:10074 RNH1 ribonuclease/angiogenin inhibitor 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 RAI RNH ribonuclease/angiogenin inhibitor 1990-02-24 2005-06-01 2005-06-01 2023-01-20 6050 ENSG00000023191 OTTHUMG00000119086 uc001lpq.3 NM_203389 CCDS7697 P13489 MGI:1195456 RGD:621398 173320 HGNC:10074 "ENST00000354420.7|NM_203387.3" -HGNC:25641 RNLS renalase, FAD dependent amine oxidase protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "FLJ11218|renalase" C10orf59 chromosome 10 open reading frame 59 2004-05-27 2009-04-22 2016-06-08 2023-01-20 55328 ENSG00000184719 OTTHUMG00000018692 uc001kfe.4 BC005364 NM_018363 "CCDS31239|CCDS7388" Q5VYX0 "15841207|17565281" MGI:1915045 RGD:1309804 609360 HGNC:25641 "ENST00000331772.9|NM_001031709.3" +HGNC:25641 RNLS renalase, FAD dependent amine oxidase protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "FLJ11218|renalase" C10orf59 chromosome 10 open reading frame 59 2004-05-27 2009-04-22 2016-06-08 2023-01-20 55328 ENSG00000184719 OTTHUMG00000018692 uc001kfe.4 BC005364 NM_018363 "CCDS7388|CCDS31239" Q5VYX0 "15841207|17565281" MGI:1915045 RGD:1309804 609360 HGNC:25641 "ENST00000331772.9|NM_001031709.3" HGNC:10075 RNMT RNA guanine-7 methyltransferase protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "RG7MT1|N7-MTase" mRNA cap guanine-N7 methyltransferase RNA (guanine-7-) methyltransferase 7BS DNA/RNA methyltransferases 2059 1998-09-22 2016-04-06 2023-01-20 8731 ENSG00000101654 OTTHUMG00000131718 uc002ksl.2 AF067791 NM_003799 "CCDS77156|CCDS11867|CCDS92440" O43148 "9828141|9705270" MGI:1915147 RGD:1309242 603514 2.1.1.56 HGNC:10075 "ENST00000383314.7|NM_003799.3" HGNC:18666 RNPC3 RNA binding region (RNP1, RRM) containing 3 protein-coding gene gene with protein product Approved 1p21.1 01p21.1 "KIAA1839|FLJ20008|RBM40|SNRNP65" U11/U12 snRNP 65K "RNA binding motif containing|U11/U12 di-snRNP" "725|1521" 2002-09-17 2015-11-05 2023-01-20 55599 ENSG00000185946 OTTHUMG00000166613 uc057isu.1 "AB058742|AY099329" NM_017619 CCDS781 Q96LT9 "14974681|15146077" MGI:1914475 RGD:1582776 618016 402549 HGNC:18666 "ENST00000423855.7|NM_017619.4" HGNC:18666 HGNC:55855 RNPC3-DT RNPC3 divergent transcript non-coding RNA RNA, long non-coding Approved 1p21.1 01p21.1 Divergent transcripts 1990 2021-09-03 2021-09-03 101928436 ENSG00000224613 NR_168319 HGNC:47036 RNPC3P1 RNA binding region (RNP1, RRM) containing 3 pseudogene 1 pseudogene pseudogene Approved 3p13 03p13 2013-04-04 2015-11-05 2022-10-19 654340 ENSG00000271034 NG_022206 PGOHUM00000237647 HGNC:47036 HGNC:10078 RNPEP arginyl aminopeptidase protein-coding gene gene with protein product Approved 1q32.1 01q32.1 APB aminopeptidase B arginyl aminopeptidase (aminopeptidase B) "Aminopeptidases|M1 metallopeptidases|MicroRNA protein coding host genes" "104|1437|1691" 1993-04-15 2016-01-25 2023-01-20 6051 ENSG00000176393 OTTHUMG00000035866 uc001gxd.4 BC001064 NM_020216 CCDS1418 Q9H4A4 "9533033|10467730" MGI:2384902 RGD:621137 602675 objectId:1564 3.4.11.6 HGNC:10078 "ENST00000295640.9|NM_020216.4" HGNC:10079 RNPEPL1 arginyl aminopeptidase like 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 aminopeptidase B-like 1 arginyl aminopeptidase (aminopeptidase B)-like 1 M1 metallopeptidases 1437 2000-09-01 2016-06-27 2016-07-29 57140 ENSG00000142327 OTTHUMG00000133357 uc061uih.1 NM_018226 Q9HAU8 19508204 MGI:1914170 RGD:1595210 605287 M01.022 objectId:1565 3.4.11.- HGNC:10079 "ENST00000270357.10|NM_018226.6" -HGNC:10080 RNPS1 RNA binding protein with serine rich domain 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 RNA-binding protein S1, serine-rich domain "RNA binding motif containing|ASAP complex" "725|1236" 1999-09-28 2016-04-14 2023-01-20 10921 ENSG00000205937 OTTHUMG00000128828 uc002cpw.4 AF015608 NM_080594 "CCDS73811|CCDS66907|CCDS10465" Q15287 "9580558|8543184" MGI:97960 RGD:1307522 606447 HGNC:10080 "ENST00000320225.10|NM_080594.4" +HGNC:10080 RNPS1 RNA binding protein with serine rich domain 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 RNA-binding protein S1, serine-rich domain "RNA binding motif containing|ASAP complex" "725|1236" 1999-09-28 2016-04-14 2023-01-20 10921 ENSG00000205937 OTTHUMG00000128828 uc002cpw.4 AF015608 NM_080594 "CCDS66907|CCDS73811|CCDS10465" Q15287 "9580558|8543184" MGI:97960 RGD:1307522 606447 HGNC:10080 "ENST00000320225.10|NM_080594.4" HGNC:39525 RNPS1P1 RNA binding protein with serine rich domain 1 pseudogene 1 pseudogene pseudogene Approved 4p15.33 04p15.33 RNA binding protein S1, serine-rich domain pseudogene 1 2011-02-14 2016-04-14 2016-04-14 643446 ENSG00000250896 OTTHUMG00000160043 NG_023467 HGNC:39525 HGNC:10082 RNR1 RNA, ribosomal 45S cluster 1 non-coding RNA RNA, cluster Approved 13p12 not on reference assembly 13p12 not on reference assembly 45S rDNA cluster 1 "RNA, ribosomal 1|RNA, ribosomal cluster 1" Ribosomal 45S RNA clusters 1381 2001-06-22 2017-02-02 2019-03-21 6052 11350117 180450 HGNC:10083 RNR2 RNA, ribosomal 45S cluster 2 non-coding RNA RNA, cluster Approved 14p12 not on reference assembly 14p12 not on reference assembly 45S rDNA cluster 2 "RNA, ribosomal 2|RNA, ribosomal cluster 2" Ribosomal 45S RNA clusters 1381 2001-06-22 2017-02-02 2017-03-17 6053 AF305858 NR_024197 11350117 180451 @@ -30182,7 +30185,7 @@ HGNC:53616 RNU1-151P RNA, U1 small nuclear 151, pseudogene pseudogene pseudogene HGNC:53625 RNU1-152P RNA, U1 small nuclear 152, pseudogene pseudogene pseudogene Approved 6p21.32 06p21.32 2017-08-02 2017-08-02 107521952 NG_046845 HGNC:53625 HGNC:54435 RNU1-153P RNA, U1 small nuclear 153, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 2019-07-26 2019-07-26 115409985 ENSG00000277678 NG_066032 HGNC:54435 HGNC:54436 RNU1-154P RNA, U1 small nuclear 154, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 2019-07-26 2019-07-26 115409990 ENSG00000270384 NG_066034 HGNC:54436 -HGNC:54437 RNU1-155P RNA, U1 small nuclear 155 pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 2019-07-26 2019-07-26 115409986 ENSG00000252135 NG_066033 RGD:41282052 HGNC:54437 +HGNC:54437 RNU1-155P RNA, U1 small nuclear 155 pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 2019-07-26 2019-07-26 115409986 ENSG00000252135 NG_066033 HGNC:54437 HGNC:10142 RNU2-1 RNA, U2 small nuclear 1 non-coding RNA RNA, small nuclear Approved 17q12 17q12 U2 "Small nuclear RNAs|U2 small nuclear ribonucleoprotein " "849|1501" 2001-06-22 2013-05-16 2013-05-16 2013-07-02 6066 ENSG00000274585 uc060fta.1 U57614 NR_002716 2411549 180690 HGNC:10142 HGNC:10152 RNU2-2P RNA, U2 small nuclear 2, pseudogene pseudogene pseudogene Approved 11q12.3 11q12.3 U2 "RNU2B|RNU2-2" "RNA, U2B small nuclear|RNA, U2 small nuclear 2" 1999-12-14 2013-05-16 2013-05-16 2014-11-19 26855 ENSG00000222328 K02847 NR_002761 6238232 HGNC:10152 HGNC:10153 RNU2-3P RNA, U2 small nuclear 3, pseudogene pseudogene pseudogene Approved 15q26.2 15q26.2 U2 RNU2P1 RNA, U2 small nuclear pseudogene 1 1999-12-14 2009-11-06 2011-04-15 2014-11-19 26854 ENSG00000222076 uc059npg.1 K03024 NG_001258 6209403 RGD:41006369 HGNC:10153 @@ -32006,9 +32009,9 @@ HGNC:34088 RNY5P7 RNY5 pseudogene 7 pseudogene pseudogene Approved 10q24.31 10q2 HGNC:34089 RNY5P8 RNY5 pseudogene 8 pseudogene pseudogene Approved 13q33.1 13q33.1 RNA, Ro-associated Y5 pseudogene 8 2008-05-01 2018-11-07 2018-11-07 100380878 NG_016734 HGNC:34089 HGNC:34090 RNY5P9 RNY5 pseudogene 9 pseudogene pseudogene Approved 16q21 16q21 RNA, Ro-associated Y5 pseudogene 9 2008-05-01 2018-11-07 2018-11-07 100169836 NG_007999 HGNC:34090 HGNC:34091 RNY5P10 RNY5 pseudogene 10 pseudogene pseudogene Approved 19q13.12 19q13.12 RNA, Ro-associated Y5 pseudogene 10 2008-05-01 2018-11-07 2018-11-07 100169837 NG_008006 HGNC:34091 -HGNC:11313 RO60 Ro60, Y RNA binding protein protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "60 kDa SS-A/Ro ribonucleoprotein|Ro/SSA 60kDa" "SSA2|TROVE2" "Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)|TROVE domain family, member 2|TROVE domain family member 2" 1994-06-17 2018-11-07 2018-11-07 2023-01-20 6738 ENSG00000116747 OTTHUMG00000035675 uc001gsv.3 BC036658 NM_004600 "CCDS41449|CCDS41450|CCDS86042|CCDS1379|CCDS53451" P10155 "8188321|3200833|7829096" MGI:106652 RGD:1305083 600063 HGNC:11313 "ENST00000400968.7|NM_001173524.2" +HGNC:11313 RO60 Ro60, Y RNA binding protein protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "60 kDa SS-A/Ro ribonucleoprotein|Ro/SSA 60kDa" "SSA2|TROVE2" "Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)|TROVE domain family, member 2|TROVE domain family member 2" 1994-06-17 2018-11-07 2018-11-07 2023-01-20 6738 ENSG00000116747 OTTHUMG00000035675 uc001gsv.3 BC036658 NM_004600 "CCDS41449|CCDS53451|CCDS1379|CCDS86042|CCDS41450" P10155 "8188321|3200833|7829096" MGI:106652 RGD:1305083 600063 HGNC:11313 "ENST00000400968.7|NM_001173524.2" HGNC:10249 ROBO1 roundabout guidance receptor 1 protein-coding gene gene with protein product Approved 3p12.3 03p12.3 "DUTT1|FLJ21882|SAX3" "roundabout (axon guidance receptor, Drosophila) homolog 1|roundabout, axon guidance receptor, homolog 1 (Drosophila)" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1998-03-26 2015-06-26 2023-01-20 6091 ENSG00000169855 OTTHUMG00000158843 uc003dqd.3 AF040990 NM_002941 "CCDS46872|CCDS54610|CCDS54611" Q9Y6N7 "9458045|9608531" MGI:1274781 RGD:61941 602430 HGNC:10249 "ENST00000464233.6|NM_002941.4" HGNC:10249 -HGNC:10250 ROBO2 roundabout guidance receptor 2 protein-coding gene gene with protein product Approved 3p12.3 03p12.3 KIAA1568 "roundabout (axon guidance receptor, Drosophila) homolog 2|roundabout, axon guidance receptor, homolog 2 (Drosophila)" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1998-03-26 2015-06-26 2023-01-20 6092 ENSG00000185008 OTTHUMG00000158935 uc003dpy.5 AF040991 NM_001128929 "CCDS93321|CCDS93320|CCDS54609|CCDS93318|CCDS93314|CCDS93317|CCDS93319|CCDS93315|CCDS43109|CCDS93316" Q9HCK4 9458045 MGI:1890110 RGD:620167 602431 289371 HGNC:10250 "ENST00000696593.1|NM_001395656.1" HGNC:10250 +HGNC:10250 ROBO2 roundabout guidance receptor 2 protein-coding gene gene with protein product Approved 3p12.3 03p12.3 KIAA1568 "roundabout (axon guidance receptor, Drosophila) homolog 2|roundabout, axon guidance receptor, homolog 2 (Drosophila)" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1998-03-26 2015-06-26 2023-01-20 6092 ENSG00000185008 OTTHUMG00000158935 uc003dpy.5 AF040991 NM_001128929 "CCDS54609|CCDS93315|CCDS93314|CCDS43109|CCDS93320|CCDS93316|CCDS93317|CCDS93319|CCDS93318|CCDS93321" Q9HCK4 9458045 MGI:1890110 RGD:620167 602431 289371 HGNC:10250 "ENST00000696593.1|NM_001395656.1" HGNC:10250 HGNC:44386 ROBO2P1 roundabout guidance receptor 2 pseudogene 1 pseudogene pseudogene Approved 7p12.1 07p12.1 ROBO2 pseudogene 1 2012-09-17 2015-06-26 2015-06-26 106480790 ENSG00000229478 OTTHUMG00000156001 NG_044091 PGOHUM00000232694 HGNC:44386 HGNC:13433 ROBO3 roundabout guidance receptor 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "RBIG1|FLJ21044|HGPS" HGPPS "roundabout (axon guidance receptor, Drosophila) homolog 3|horizontal gaze palsy with progressive scoliosis|roundabout, axon guidance receptor, homolog 3 (Drosophila)" "Fibronectin type III domain containing|I-set domain containing" "555|593" 2004-05-10 2015-06-26 2023-01-20 64221 ENSG00000154134 OTTHUMG00000165934 uc001qbc.4 AK024697 NM_022370 CCDS44755 Q96MS0 15105459 MGI:1343102 RGD:1311018 608630 118352 HGNC:13433 "ENST00000397801.6|NM_022370.4" HGNC:13433 HGNC:17985 ROBO4 roundabout guidance receptor 4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FLJ20798|MRB|ECSM4" magic roundabout "roundabout homolog 4 (Drosophila)|roundabout, axon guidance receptor, homolog 4 (Drosophila)" "Fibronectin type III domain containing|I-set domain containing" "555|593" 2002-01-22 2015-06-26 2023-01-20 54538 ENSG00000154133 OTTHUMG00000165936 uc001qbg.4 AF361473 NM_019055 "CCDS73409|CCDS8455" Q8WZ75 "11076864|16481322" MGI:1921394 RGD:6494870 607528 HGNC:17985 "ENST00000306534.8|NM_019055.6" HGNC:17985 @@ -32026,10 +32029,10 @@ HGNC:39984 ROPN1L-AS1 ROPN1L antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:10256 ROR1 receptor tyrosine kinase like orphan receptor 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 NTRKR1 "Receptor tyrosine kinases|I-set domain containing" "321|593" 2000-02-29 2016-06-28 2023-01-20 4919 ENSG00000185483 OTTHUMG00000009022 uc001dbj.4 M97675 NM_005012 "CCDS626|CCDS41344" Q01973 "1334494|8875995" MGI:1347520 RGD:1559469 602336 objectId:1845 HGNC:10256 "ENST00000371079.6|NM_005012.4" HGNC:10256 HGNC:40508 ROR1-AS1 ROR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Antisense RNAs 1987 2014-05-21 2019-08-08 101927034 ENSG00000223949 OTTHUMG00000009024 NR_110665 31389604 ROR1-AS1 HGNC:40508 HGNC:10257 ROR2 receptor tyrosine kinase like orphan receptor 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "NTRKR2|BDB|BDB1" receptor tyrosine kinase-like orphan receptor 2 "Receptor tyrosine kinases|I-set domain containing" "321|593" 2000-02-29 2016-03-29 2023-01-20 4920 ENSG00000169071 OTTHUMG00000020211 uc004arj.3 M97639 NM_001318204 CCDS6691 Q01974 "1334494|10700182" MGI:1347521 RGD:1305275 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ROR2 602337 118362 objectId:1846 HGNC:10257 "ENST00000375708.4|NM_004560.4" HGNC:10257 -HGNC:10258 RORA RAR related orphan receptor A protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "RZRA|ROR1|ROR2|ROR3|NR1F1|ROR-alpha|RORalpha|RORa1" "nuclear receptor subfamily 1 group F member 1|Nuclear receptor ROR-alpha|RAR-related orphan nuclear receptor alpha" RAR-related orphan receptor A RAR related orphan receptors 2082 1995-04-13 2016-01-25 2023-02-21 6095 ENSG00000069667 OTTHUMG00000132769 uc002agx.4 U04897 NM_134261 "CCDS10178|CCDS10177|CCDS45271|CCDS10179" P35398 "7926749|29656859" MGI:104661 RGD:1308419 600825 470992 objectId:598 HGNC:10258 "ENST00000335670.11|NM_134261.3" HGNC:10258 +HGNC:10258 RORA RAR related orphan receptor A protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "RZRA|ROR1|ROR2|ROR3|NR1F1|ROR-alpha|RORalpha|RORa1" "nuclear receptor subfamily 1 group F member 1|Nuclear receptor ROR-alpha|RAR-related orphan nuclear receptor alpha" RAR-related orphan receptor A RAR related orphan receptors 2082 1995-04-13 2016-01-25 2023-02-21 6095 ENSG00000069667 OTTHUMG00000132769 uc002agx.4 U04897 NM_134261 "CCDS10179|CCDS45271|CCDS10178|CCDS10177" P35398 "7926749|29656859" MGI:104661 RGD:1308419 600825 470992 objectId:598 HGNC:10258 "ENST00000335670.11|NM_134261.3" HGNC:10258 HGNC:51410 RORA-AS1 RORA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q22.2 15q22.2 Antisense RNAs 1987 2014-11-21 2014-11-21 101928784 ENSG00000245534 OTTHUMG00000172103 BC035094 NR_120339 RORA-AS1 HGNC:51410 HGNC:51411 RORA-AS2 RORA antisense RNA 2 non-coding RNA RNA, long non-coding Approved 15q22.2 15q22.2 Antisense RNAs 1987 2014-11-21 2014-11-21 100996876 ENSG00000259482 OTTHUMG00000172106 "DB058680|DB033761" NR_120318 RORA-AS2 HGNC:51411 -HGNC:10259 RORB RAR related orphan receptor B protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "RZRB|NR1F2|ROR-BETA" RAR-related orphan receptor B RAR related orphan receptors 2082 1995-04-13 2016-01-25 2023-01-20 6096 ENSG00000198963 OTTHUMG00000020026 uc004ajh.4 Y08639 NM_001365023 "CCDS94422|CCDS6646" Q92753 7926749 MGI:1343464 RGD:1306778 601972 470994 objectId:599 HGNC:10259 "ENST00000376896.8|NM_006914.4" HGNC:10259 +HGNC:10259 RORB RAR related orphan receptor B protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "RZRB|NR1F2|ROR-BETA" RAR-related orphan receptor B RAR related orphan receptors 2082 1995-04-13 2016-01-25 2023-01-20 6096 ENSG00000198963 OTTHUMG00000020026 uc004ajh.4 Y08639 NM_001365023 "CCDS6646|CCDS94422" Q92753 7926749 MGI:1343464 RGD:1306778 601972 470994 objectId:599 HGNC:10259 "ENST00000376896.8|NM_006914.4" HGNC:10259 HGNC:49803 RORB-AS1 RORB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.13 09q21.13 Antisense RNAs 1987 2014-02-24 2014-02-24 103752585 ENSG00000224825 OTTHUMG00000020025 BI520565 NR_125791 RORB-AS1 HGNC:49803 HGNC:10260 RORC RAR related orphan receptor C protein-coding gene gene with protein product Approved 1q21 01q21 "RZRG|RORG|NR1F3|TOR" RAR-related orphan receptor C RAR related orphan receptors 2082 1995-04-13 2016-01-25 2023-01-20 6097 ENSG00000143365 OTTHUMG00000013053 uc001ezh.4 U16997 NM_001001523 P51449 7811290 MGI:104856 RGD:1595785 LRG_1322|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1322.xml 602943 470996 objectId:600 HGNC:10260 "ENST00000318247.7|NM_005060.4" HGNC:10260 HGNC:10261 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "MCF3|ROS|c-ros-1" "v-ros avian UR2 sarcoma virus oncogene homolog 1|v-ros UR2 sarcoma virus oncogene homolog 1 (avian)|c-ros oncogene 1 , receptor tyrosine kinase" "Receptor tyrosine kinases|Fibronectin type III domain containing" "321|555" 1986-01-01 2016-04-06 2023-01-20 6098 ENSG00000047936 OTTHUMG00000016188 uc003pxp.2 M13599 NM_001378891 "CCDS5116|CCDS93994" P08922 1611909 MGI:97999 RGD:3591 LRG_997|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_997.xml ROS1 165020 objectId:1840 HGNC:10261 "ENST00000368507.8|NM_001378902.1" HGNC:10261 @@ -32047,13 +32050,13 @@ HGNC:10291 RPA3 replication protein A3 protein-coding gene gene with protein pro HGNC:54790 RPA3P1 RPA3 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 2020-01-08 2020-01-08 442058 ENSG00000179997 NG_030151 HGNC:54791 RPA3P2 RPA3 pseudogene 2 pseudogene pseudogene Approved 6p12.1 06p12.1 2020-01-08 2020-01-08 100130403 ENSG00000218261 NG_030186 HGNC:30305 RPA4 replication protein A4 protein-coding gene gene with protein product Approved Xq21.33 Xq21.33 HSU24186 "replication protein A4, 34kDa|replication protein A4, 30kDa" Nucleotide excision repair 1269 2004-08-09 2015-11-09 2023-01-20 29935 ENSG00000204086 OTTHUMG00000021987 uc004efv.5 U24186 NM_013347 CCDS35345 Q13156 7760808 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPA4 300767 HGNC:30305 "ENST00000373040.4|NM_013347.4" -HGNC:28641 RPAIN RPA interacting protein protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "MGC4189|RIP|hRIP" 2006-05-08 2006-05-08 2023-03-15 84268 ENSG00000129197 OTTHUMG00000177872 uc002gbq.3 AY775314 NM_001033002 "CCDS54075|CCDS32536|CCDS54077|CCDS54076|CCDS54079" Q86UA6 "16135809|16008515" MGI:1916973 RGD:1308492 617299 HGNC:28641 "ENST00000381209.8|NM_001033002.4" +HGNC:28641 RPAIN RPA interacting protein protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "MGC4189|RIP|hRIP" 2006-05-08 2006-05-08 2023-03-15 84268 ENSG00000129197 OTTHUMG00000177872 uc002gbq.3 AY775314 NM_001033002 "CCDS54077|CCDS54075|CCDS54079|CCDS54076|CCDS32536" Q86UA6 "16135809|16008515" MGI:1916973 RGD:1308492 617299 HGNC:28641 "ENST00000381209.8|NM_001033002.4" HGNC:24567 RPAP1 RNA polymerase II associated protein 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "DKFZP727M111|KIAA1403|MGC858|FLJ12732" 2004-03-16 2023-01-20 26015 ENSG00000103932 OTTHUMG00000130342 uc001zod.5 BC000246 NM_015540 CCDS10079 Q9BWH6 10718198 MGI:1916175 RGD:1590891 611475 HGNC:24567 "ENST00000304330.9|NM_015540.4" HGNC:25791 RPAP2 RNA polymerase II associated protein 2 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "FLJ13150|Rtr1" C1orf82 chromosome 1 open reading frame 82 2005-05-24 2007-07-26 2007-07-26 2023-01-20 79871 ENSG00000122484 OTTHUMG00000010288 uc001dot.3 AK023212 NM_024813 CCDS740 Q8IXW5 "17643375|22781759" MGI:2141142 RGD:1309034 611476 HGNC:25791 "ENST00000610020.2|NM_024813.3" HGNC:45125 RPAP2P1 RNA polymerase II associated protein 2 pseudogene 1 pseudogene pseudogene Approved 10q23.2 10q23.2 2013-02-15 2016-08-16 100272220 ENSG00000270874 OTTHUMG00000184745 NG_011757 PGOHUM00000289938 HGNC:45125 -HGNC:26151 RPAP3 RNA polymerase II associated protein 3 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "FLJ21908|spag|hSpagh|Tah1" "Tetratricopeptide repeat domain containing|R2TP complex" "769|1401" 2007-07-26 2023-01-20 79657 ENSG00000005175 OTTHUMG00000169668 uc001rpr.4 AK025561 NM_024604 "CCDS8753|CCDS53782|CCDS53783" Q9H6T3 17643375 MGI:1277218 RGD:1303036 611477 HGNC:26151 "ENST00000005386.8|NM_024604.3" +HGNC:26151 RPAP3 RNA polymerase II associated protein 3 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "FLJ21908|spag|hSpagh|Tah1" "Tetratricopeptide repeat domain containing|R2TP complex" "769|1401" 2007-07-26 2023-01-20 79657 ENSG00000005175 OTTHUMG00000169668 uc001rpr.4 AK025561 NM_024604 "CCDS53782|CCDS8753|CCDS53783" Q9H6T3 17643375 MGI:1277218 RGD:1303036 611477 HGNC:26151 "ENST00000005386.8|NM_024604.3" HGNC:55477 RPAP3-DT RPAP3 divergent transcript non-coding RNA RNA, long non-coding Approved 12q13.11 12q13.11 Divergent transcripts 1990 2021-03-11 2021-03-11 105369748 ENSG00000257433 NR_183480 -HGNC:10293 RPE ribulose-5-phosphate-3-epimerase protein-coding gene gene with protein product Approved 2q34 02q34 2001-06-22 2023-01-20 6120 ENSG00000197713 OTTHUMG00000154690 uc002vdn.5 NM_006916 "CCDS63108|CCDS63107|CCDS42810|CCDS82568|CCDS2388|CCDS82567" Q96AT9 MGI:1913896 RGD:1564890 180480 5.1.3.1 HGNC:10293 "ENST00000359429.11|NM_199229.3" +HGNC:10293 RPE ribulose-5-phosphate-3-epimerase protein-coding gene gene with protein product Approved 2q34 02q34 2001-06-22 2023-01-20 6120 ENSG00000197713 OTTHUMG00000154690 uc002vdn.5 NM_006916 "CCDS82568|CCDS2388|CCDS42810|CCDS63108|CCDS63107|CCDS82567" Q96AT9 MGI:1913896 RGD:1564890 180480 5.1.3.1 HGNC:10293 "ENST00000359429.11|NM_199229.3" HGNC:10294 RPE65 retinoid isomerohydrolase RPE65 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "LCA2|rd12|BCO3" "BCO family, member 3|retinol isomerase|all-trans-retinyl-palmitate hydrolase" RP20 retinal pigment epithelium-specific protein 65kDa 1993-10-04 2019-01-21 2023-01-20 6121 ENSG00000116745 OTTHUMG00000009208 uc001dei.2 U18991 NM_000329 CCDS643 Q16518 "8340400|16116091" MGI:98001 RGD:621396 Mutations of the RPE65 Gene|http://www.retina-international.org/files/sci-news/rpe65mut.htm 180069 118376 3.1.1.64 HGNC:10294 "ENST00000262340.6|NM_000329.3" HGNC:10294 HGNC:45241 RPEL1 ribulose-5-phosphate-3-epimerase like 1 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 2013-12-20 2016-06-30 2023-01-20 729020 ENSG00000235376 OTTHUMG00000018980 NM_001143909 CCDS65929 Q2QD12 16201836 MGI:1913896 HGNC:45241 "ENST00000441178.2|NM_001143909.1" HGNC:44520 RPEP1 ribulose-5-phosphate-3-epimerase pseudogene 1 pseudogene pseudogene Approved 5q12.3 05q12.3 2012-11-14 2012-11-14 100420512 ENSG00000250732 OTTHUMG00000162552 NG_024597 PGOHUM00000235243 HGNC:44520 @@ -32066,11 +32069,11 @@ HGNC:30350 RPF1 ribosome production factor 1 homolog protein-coding gene gene wi HGNC:20870 RPF2 ribosome production factor 2 homolog protein-coding gene gene with protein product Approved 6q21 06q21 "FLJ21087|bA397G5.4" ribosomal processing factor 2 homolog (S. cerevisiae) BXDC1 "brix domain containing 1|ribosome production factor 2 homolog (S. cerevisiae)" 2003-04-16 2009-09-25 2015-07-22 2023-01-20 84154 ENSG00000197498 OTTHUMG00000015368 uc003pun.5 AK024740 NM_032194 CCDS5088 Q9H7B2 12048200 MGI:1914489 RGD:1306906 618471 HGNC:20870 "ENST00000441448.7|NM_032194.3" HGNC:16186 RPF2P1 ribosome production factor 2 homolog pseudogene 1 pseudogene pseudogene Approved 20q11.22 20q11.22 bA353C18.4 "C20orf53|BXDC1P|RPF2P" "chromosome 20 open reading frame 53|brix domain containing 1 pseudogene|ribosome production factor 2 pseudogene|ribosome production factor 2 homolog (S. cerevisiae) pseudogene 1" 2001-07-17 2012-05-28 2015-07-22 2015-07-22 729608 ENSG00000225357 OTTHUMG00000032362 AL357374 NG_009525 PGOHUM00000247649 HGNC:16186 HGNC:44015 RPF2P2 ribosome production factor 2 homolog pseudogene 2 pseudogene pseudogene Approved 4q26 04q26 ribosome production factor 2 homolog (S. cerevisiae) pseudogene 2 2012-05-28 2015-07-22 2015-07-22 100128462 ENSG00000250693 OTTHUMG00000161072 NG_022073 PGOHUM00000246042 HGNC:44015 -HGNC:10295 RPGR retinitis pigmentosa GTPase regulator protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 CORDX1 "CRD|RP3|RP15|COD1" "retinitis pigmentosa 15|cone dystrophy 1 (X-linked)" 1999-04-29 2004-02-13 2023-01-20 6103 ENSG00000156313 OTTHUMG00000021361 uc004deb.4 U57629 NM_000328 "CCDS35229|CCDS94589|CCDS14246|CCDS94588" Q92834 "8673101|8817343" MGI:1344037 RGD:1560136 "Mutations of the Retinitis Pigmentosa GTPase Regulator (RPGR) Gene|http://www.retina-international.org/files/sci-news/rpgrmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPGR|LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=RPGR" 312610 118381 HGNC:10295 "ENST00000645032.1|NM_001034853.2" HGNC:10295 -HGNC:13436 RPGRIP1 RPGR interacting protein 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "RGI1|LCA6|CORD13" RPGRIP retinitis pigmentosa GTPase regulator interacting protein 1 C2 domain containing 823 2000-12-20 2017-07-28 2023-01-20 57096 ENSG00000092200 OTTHUMG00000170758 uc001wag.4 AF227257 NM_020366 "CCDS91848|CCDS45080" Q96KN7 "10958647|10958648" MGI:1932134 RGD:1310807 Mutations of the Retinitis Pigmentosa GTPase Regulator Interacting Protein Gene|http://www.retina-international.org/sci-news/databases/mutation-database/rpgrip1-mutation/ 605446 118388 HGNC:13436 "ENST00000400017.7|NM_020366.4" HGNC:13436 -HGNC:29168 RPGRIP1L RPGRIP1 like protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "KIAA1005|CORS3|JBTS7|MKS5|NPHP8|FTM|PPP1R134" "fantom homolog|Meckel syndrome, type 5|protein phosphatase 1, regulatory subunit 134" RPGRIP1-like "Protein phosphatase 1 regulatory subunits|C2 domain containing" "694|823" 2007-05-14 2016-05-10 2023-01-20 23322 ENSG00000103494 OTTHUMG00000173125 uc002eho.5 NM_015272 "CCDS76868|CCDS32447|CCDS86527|CCDS45486|CCDS86526|CCDS81980" Q68CZ1 10231032 MGI:1920563 RGD:1311099 LRG_696|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_696.xml 610937 140541 HGNC:29168 "ENST00000647211.2|NM_015272.5" HGNC:29168 -HGNC:17056 RPH3A rabphilin 3A protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "KIAA0985|rabphilin|exophilin-1" rabphilin 3A homolog (mouse) Synaptotagmin like tandem C2 proteins 822 2003-12-10 2014-07-02 2023-01-20 22895 ENSG00000089169 OTTHUMG00000169713 uc058tlu.1 AB023202 NM_014954 "CCDS44979|CCDS31904" Q9Y2J0 "10231032|7822236" MGI:102788 RGD:620073 612159 HGNC:17056 "ENST00000389385.9|NM_001143854.2" HGNC:17056 -HGNC:10296 RPH3AL rabphilin 3A like (without C2 domains) protein-coding gene gene with protein product Approved 17p13.3 17p13.3 Noc2 No C2 domains protein 1999-04-14 2017-02-21 2023-01-20 9501 ENSG00000181031 OTTHUMG00000090273 uc021tmx.1 NM_006987 "CCDS54059|CCDS10994" Q9UNE2 10395805 MGI:1923492 RGD:620342 604881 HGNC:10296 "ENST00000331302.12|NM_006987.4" +HGNC:10295 RPGR retinitis pigmentosa GTPase regulator protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 CORDX1 "CRD|RP3|RP15|COD1" "retinitis pigmentosa 15|cone dystrophy 1 (X-linked)" 1999-04-29 2004-02-13 2023-01-20 6103 ENSG00000156313 OTTHUMG00000021361 uc004deb.4 U57629 NM_000328 "CCDS14246|CCDS94589|CCDS94588|CCDS35229" Q92834 "8673101|8817343" MGI:1344037 RGD:1560136 "Mutations of the Retinitis Pigmentosa GTPase Regulator (RPGR) Gene|http://www.retina-international.org/files/sci-news/rpgrmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPGR|LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=RPGR" 312610 118381 HGNC:10295 "ENST00000645032.1|NM_001034853.2" HGNC:10295 +HGNC:13436 RPGRIP1 RPGR interacting protein 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "RGI1|LCA6|CORD13" RPGRIP retinitis pigmentosa GTPase regulator interacting protein 1 C2 domain containing 823 2000-12-20 2017-07-28 2023-01-20 57096 ENSG00000092200 OTTHUMG00000170758 uc001wag.4 AF227257 NM_020366 "CCDS45080|CCDS91848" Q96KN7 "10958647|10958648" MGI:1932134 RGD:1310807 Mutations of the Retinitis Pigmentosa GTPase Regulator Interacting Protein Gene|http://www.retina-international.org/sci-news/databases/mutation-database/rpgrip1-mutation/ 605446 118388 HGNC:13436 "ENST00000400017.7|NM_020366.4" HGNC:13436 +HGNC:29168 RPGRIP1L RPGRIP1 like protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "KIAA1005|CORS3|JBTS7|MKS5|NPHP8|FTM|PPP1R134" "fantom homolog|Meckel syndrome, type 5|protein phosphatase 1, regulatory subunit 134" RPGRIP1-like "Protein phosphatase 1 regulatory subunits|C2 domain containing" "694|823" 2007-05-14 2016-05-10 2023-01-20 23322 ENSG00000103494 OTTHUMG00000173125 uc002eho.5 NM_015272 "CCDS81980|CCDS86527|CCDS76868|CCDS86526|CCDS45486|CCDS32447" Q68CZ1 10231032 MGI:1920563 RGD:1311099 LRG_696|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_696.xml 610937 140541 HGNC:29168 "ENST00000647211.2|NM_015272.5" HGNC:29168 +HGNC:17056 RPH3A rabphilin 3A protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "KIAA0985|rabphilin|exophilin-1" rabphilin 3A homolog (mouse) Synaptotagmin like tandem C2 proteins 822 2003-12-10 2014-07-02 2023-01-20 22895 ENSG00000089169 OTTHUMG00000169713 uc058tlu.1 AB023202 NM_014954 "CCDS31904|CCDS44979" Q9Y2J0 "10231032|7822236" MGI:102788 RGD:620073 612159 HGNC:17056 "ENST00000389385.9|NM_001143854.2" HGNC:17056 +HGNC:10296 RPH3AL rabphilin 3A like (without C2 domains) protein-coding gene gene with protein product Approved 17p13.3 17p13.3 Noc2 No C2 domains protein 1999-04-14 2017-02-21 2023-01-20 9501 ENSG00000181031 OTTHUMG00000090273 uc021tmx.1 NM_006987 "CCDS10994|CCDS54059" Q9UNE2 10395805 MGI:1923492 RGD:620342 604881 HGNC:10296 "ENST00000331302.12|NM_006987.4" HGNC:55345 RPH3AL-AS1 RPH3AL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 Antisense RNAs 1987 2020-11-04 2020-11-04 100506388 ENSG00000262061 NR_040011 HGNC:56089 RPH3AL-AS2 RPH3AL antisense RNA 2 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 Antisense RNAs 1987 2021-12-20 2021-12-20 123706508 ENSG00000262294 HGNC:10297 RPIA ribose 5-phosphate isomerase A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 ribose 5-phosphate epimerase 1999-09-30 2008-07-31 2023-01-20 22934 ENSG00000153574 OTTHUMG00000130333 uc002ste.4 L35035 NM_144563 CCDS2004 P49247 7758956 MGI:103254 RGD:1311377 180430 444921 5.3.1.6 HGNC:10297 "ENST00000283646.5|NM_144563.3" HGNC:10297 @@ -32167,7 +32170,7 @@ HGNC:36382 RPL6P29 ribosomal protein L6 pseudogene 29 pseudogene pseudogene Appr HGNC:36171 RPL6P30 ribosomal protein L6 pseudogene 30 pseudogene pseudogene Approved Xp22.2 Xp22.2 2009-03-06 2011-01-17 139452 ENSG00000215313 OTTHUMG00000021190 NG_010970 19123937 PGOHUM00000241198 HGNC:36171 HGNC:55890 RPL6P31 ribosomal protein L6 pseudogene 31 pseudogene pseudogene Approved 1q21.2 01q21.2 2021-09-30 2021-09-30 441907 ENSG00000223945 NG_022807 PGOHUM00000296568 HGNC:55891 RPL6P32 ribosomal protein L6 pseudogene 32 pseudogene pseudogene Approved 5q33.2 05q33.2 2021-09-30 2021-09-30 2021-09-30 100131520 ENSG00000253646 NG_021867 PGOHUM00000300797 -HGNC:10363 RPL7 ribosomal protein L7 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 "humL7-1|L7|uL30" L ribosomal proteins 729 1998-08-14 2023-03-10 6129 ENSG00000147604 OTTHUMG00000134312 uc064nrp.1 L16557 NM_000971 "CCDS87615|CCDS6212" P18124 "8360149|8441630" MGI:98073 RGD:735169 604166 HGNC:10363 "ENST00000352983.7|NM_000971.4" +HGNC:10363 RPL7 ribosomal protein L7 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 "humL7-1|L7|uL30" L ribosomal proteins 729 1998-08-14 2023-03-10 6129 ENSG00000147604 OTTHUMG00000134312 uc064nrp.1 L16557 NM_000971 "CCDS6212|CCDS87615" P18124 "8360149|8441630" MGI:98073 RGD:735169 604166 HGNC:10363 "ENST00000352983.7|NM_000971.4" HGNC:10364 RPL7A ribosomal protein L7a protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "SURF3|TRUP|L7A|eL8" "surfeit 3|PLA-X polypeptide|surfeit locus protein 3|60S ribosomal protein L7a|thyroid hormone receptor uncoupling protein" "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1989-11-29 2023-03-10 6130 ENSG00000148303 OTTHUMG00000020864 uc004cde.2 BC005128 NM_000972 CCDS6965 P62424 "2403926|2966065" MGI:1353472 RGD:1307586 185640 HGNC:10364 "ENST00000323345.11|NM_000972.3" HGNC:23552 RPL7AP2 ribosomal protein L7a pseudogene 2 pseudogene pseudogene Approved 14q21.1 14q21.1 2009-03-01 2014-11-19 652978 ENSG00000241984 OTTHUMG00000158046 AL109628 NG_009399 19123937 PGOHUM00000248144 HGNC:23552 HGNC:23553 RPL7AP3 ribosomal protein L7a pseudogene 3 pseudogene pseudogene Approved 14q13.2 14q13.2 2005-12-22 2017-10-30 654370 ENSG00000256243 OTTHUMG00000171027 AL121594 NG_009375 PGOHUM00000292322 HGNC:23553 @@ -32464,7 +32467,7 @@ HGNC:51940 RPL12P48 ribosomal protein L12 pseudogene 48 pseudogene pseudogene Ap HGNC:51941 RPL12P49 ribosomal protein L12 pseudogene 49 pseudogene pseudogene Approved Xp22.2 Xp22.2 2015-10-07 2015-10-07 107075252 ENSG00000230180 OTTHUMG00000021195 NG_068455 PGOHUM00000304955 HGNC:51942 RPL12P50 ribosomal protein L12 pseudogene 50 pseudogene pseudogene Approved Xq28 Xq28 2015-10-07 2020-04-06 107075212 ENSG00000270916 OTTHUMG00000185066 NG_054739 PGOHUM00000304901 HGNC:51942 HGNC:10303 RPL13 ribosomal protein L13 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "D16S444E|BBC1|L13|eL13" breast basic conserved 1 "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1998-07-23 2023-03-10 6137 ENSG00000167526 OTTHUMG00000133770 uc002fnm.3 AB007172 NM_000977 "CCDS10979|CCDS58492" P26373 9582194 MGI:105922 RGD:621179 113703 HGNC:10303 "ENST00000311528.10|NM_000977.4" HGNC:10303 -HGNC:10304 RPL13A ribosomal protein L13a protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "L13A|uL13" TSTA1 tissue specific transplantation antigen 1 L ribosomal proteins 729 1999-10-12 2023-03-10 23521 ENSG00000142541 OTTHUMG00000134289 uc002pny.5 X56932 NM_001270491 "CCDS12768|CCDS74421" P40429 MGI:1351455 RGD:628697 619225 HGNC:10304 "ENST00000391857.9|NM_012423.4" +HGNC:10304 RPL13A ribosomal protein L13a protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "L13A|uL13" TSTA1 tissue specific transplantation antigen 1 L ribosomal proteins 729 1999-10-12 2023-03-10 23521 ENSG00000142541 OTTHUMG00000134289 uc002pny.5 X56932 NM_001270491 "CCDS74421|CCDS12768" P40429 MGI:1351455 RGD:628697 619225 HGNC:10304 "ENST00000391857.9|NM_012423.4" HGNC:13977 RPL13AP ribosomal protein L13a pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 dJ271M21.3 2009-03-01 2020-05-04 387043 ENSG00000231301 OTTHUMG00000031039 NG_011172 19123937 PGOHUM00000301729 HGNC:13977 HGNC:19675 RPL13AP2 ribosomal protein L13a pseudogene 2 pseudogene pseudogene Approved 14q21.3 14q21.3 2009-03-01 2017-10-30 326278 ENSG00000244053 OTTHUMG00000157872 NG_002538 19123937 PGOHUM00000292345 HGNC:19675 HGNC:23539 RPL13AP3 ribosomal protein L13a pseudogene 3 pseudogene pseudogene Approved 14q22.3 14q22.3 2009-03-01 2014-11-18 645683 ENSG00000177350 OTTHUMG00000158048 AL355773 NG_009565 Q6NVV1 19123937 HGNC:23539 @@ -32511,7 +32514,7 @@ HGNC:36638 RPL14P3 ribosomal protein L14 pseudogene 3 pseudogene pseudogene Appr HGNC:35663 RPL14P4 ribosomal protein L14 pseudogene 4 pseudogene pseudogene Approved 12q22 12q22 2009-03-06 2009-03-11 100271282 NG_010923 19123937 HGNC:35663 HGNC:37720 RPL14P5 ribosomal protein L14 pseudogene 5 pseudogene pseudogene Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 2010-02-04 2014-11-19 442442 ENSG00000225661 OTTHUMG00000021055 NG_009084 PGOHUM00000241165 HGNC:37720 HGNC:54686 RPL14P6 RPL14 pseudogene 6 pseudogene pseudogene Approved 2q14.3 02q14.3 2019-11-28 2019-11-28 100288533 ENSG00000185631 NG_030149 -HGNC:10306 RPL15 ribosomal protein L15 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "RPL10|RPLY10|RPYL10|EC45|L15|eL15" L ribosomal proteins 729 1998-07-23 2023-03-10 6138 ENSG00000174748 OTTHUMG00000130485 uc003ccn.4 AB007173 NM_002948 "CCDS58818|CCDS2640" P61313 9582194 MGI:1913730 RGD:621181 LRG_1152|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1152.xml 604174 376603 HGNC:10306 "ENST00000307839.10|NM_002948.5" HGNC:10306 +HGNC:10306 RPL15 ribosomal protein L15 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "RPL10|RPLY10|RPYL10|EC45|L15|eL15" L ribosomal proteins 729 1998-07-23 2023-03-10 6138 ENSG00000174748 OTTHUMG00000130485 uc003ccn.4 AB007173 NM_002948 "CCDS2640|CCDS58818" P61313 9582194 MGI:1913730 RGD:621181 LRG_1152|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1152.xml 604174 376603 HGNC:10306 "ENST00000307839.10|NM_002948.5" HGNC:10306 HGNC:16583 RPL15P1 ribosomal protein L15 pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ726N1.3 2009-03-01 2016-07-25 128756 ENSG00000227343 OTTHUMG00000031959 AL160411 NG_000975 19123937 PGOHUM00000296910 HGNC:16583 HGNC:19803 RPL15P2 ribosomal protein L15 pseudogene 2 pseudogene pseudogene Approved 14q32.13 14q32.13 2009-03-01 2017-10-30 326279 ENSG00000240914 OTTHUMG00000158125 NG_002539 19123937 PGOHUM00000292441 HGNC:19803 HGNC:21538 RPL15P3 ribosomal protein L15 pseudogene 3 pseudogene pseudogene Approved 6p24.1 06p24.1 bA511S14.1 2009-03-01 2014-11-18 653232 ENSG00000212802 OTTHUMG00000014268 NG_008796 19123937 HGNC:21538 @@ -32533,7 +32536,7 @@ HGNC:56582 RPL15P19 RPL15 pseudogene 19 pseudogene pseudogene Approved 15q21.1 1 HGNC:36130 RPL15P20 ribosomal protein L15 pseudogene 20 pseudogene pseudogene Approved 16p13.11 16p13.11 2009-03-06 2017-10-30 646672 ENSG00000215003 OTTHUMG00000158104 NG_010064 19123937 PGOHUM00000293438 HGNC:36130 HGNC:36190 RPL15P21 ribosomal protein L15 pseudogene 21 pseudogene pseudogene Approved 17p12 17p12 2009-03-06 2016-12-12 100132722 ENSG00000244753 OTTHUMG00000157731 NG_010592 19123937 PGOHUM00000293958 HGNC:36190 HGNC:36933 RPL15P22 ribosomal protein L15 pseudogene 22 pseudogene pseudogene Approved 22q12.1 22q12.1 2009-03-06 2022-10-27 100130624 ENSG00000231369 NG_010342 19123937 PGOHUM00000297512 HGNC:36933 -HGNC:10307 RPL17 ribosomal protein L17 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "rpL23|L17|uL22" "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1991-12-17 2023-03-10 6139 ENSG00000265681 OTTHUMG00000179680 uc002ldq.4 AB007174 NM_000985 "CCDS56070|CCDS45865|CCDS92461" P18621 "2402465|9582194" MGI:2448270 RGD:1303019 603661 HGNC:10307 "ENST00000580261.6|NM_001035006.5" +HGNC:10307 RPL17 ribosomal protein L17 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "rpL23|L17|uL22" "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1991-12-17 2023-03-10 6139 ENSG00000265681 OTTHUMG00000179680 uc002ldq.4 AB007174 NM_000985 "CCDS92461|CCDS45865|CCDS56070" P18621 "2402465|9582194" MGI:2448270 RGD:1303019 603661 HGNC:10307 "ENST00000580261.6|NM_001035006.5" HGNC:44661 RPL17-C18orf32 RPL17-C18orf32 readthrough other readthrough Approved 18q21.1 18q21.1 2012-12-12 2023-03-15 100526842 ENSG00000215472 OTTHUMG00000179689 uc002ldm.3 NM_001199355 MGI:3642619 HGNC:44661 HGNC:16559 RPL17P1 ribosomal protein L17 pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ1178H5.1 2009-03-01 2016-07-25 140748 ENSG00000229500 OTTHUMG00000032003 NG_000991 19123937 PGOHUM00000296914 HGNC:16559 HGNC:23540 RPL17P2 ribosomal protein L17 pseudogene 2 pseudogene pseudogene Approved 14q23.1 14q23.1 2009-03-01 2014-11-19 652974 ENSG00000242135 OTTHUMG00000157939 AL157756 NG_009524 19123937 PGOHUM00000247815 HGNC:23540 @@ -32586,7 +32589,7 @@ HGNC:36997 RPL17P48 ribosomal protein L17 pseudogene 48 pseudogene pseudogene Ap HGNC:37009 RPL17P49 ribosomal protein L17 pseudogene 49 pseudogene pseudogene Approved Xp22.2 Xp22.2 2009-03-06 2012-10-16 100271388 ENSG00000231211 OTTHUMG00000021136 NG_010144 19123937 PGOHUM00000263335 HGNC:37009 HGNC:45098 RPL17P50 ribosomal protein L17 pseudogene 50 pseudogene pseudogene Approved 10q22.1 10q22.1 2013-02-15 2013-02-15 729046 ENSG00000213700 OTTHUMG00000018448 NG_022148 HGNC:45098 HGNC:49100 RPL17P51 ribosomal protein L17 pseudogene 51 pseudogene pseudogene Approved 13q14.11 13q14.11 2013-09-02 2013-09-02 106480245 ENSG00000271429 OTTHUMG00000184721 NG_043848 PGOHUM00000262882 HGNC:49100 -HGNC:10310 RPL18 ribosomal protein L18 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "L18|eL18" 60S ribosomal protein L18 L ribosomal proteins 729 1994-01-04 2023-03-10 6141 ENSG00000063177 OTTHUMG00000169760 uc002pjq.3 L11566 NM_000979 "CCDS58669|CCDS12726" Q07020 8218404 MGI:98003 RGD:621182 604179 HGNC:10310 "ENST00000549920.6|NM_000979.4" HGNC:10310 +HGNC:10310 RPL18 ribosomal protein L18 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "L18|eL18" 60S ribosomal protein L18 L ribosomal proteins 729 1994-01-04 2023-03-10 6141 ENSG00000063177 OTTHUMG00000169760 uc002pjq.3 L11566 NM_000979 "CCDS12726|CCDS58669" Q07020 8218404 MGI:98003 RGD:621182 604179 HGNC:10310 "ENST00000549920.6|NM_000979.4" HGNC:10310 HGNC:10311 RPL18A ribosomal protein L18a protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "L18A|eL20" "60S ribosomal protein L18a|ribosomal protein L18a-like protein" "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1998-08-18 2023-03-10 6142 ENSG00000105640 OTTHUMG00000183445 uc002nhp.4 AB007175 NM_000980 CCDS12367 Q02543 9582194 MGI:1924058 RGD:1302976 604178 HGNC:10311 "ENST00000222247.10|NM_000980.4" HGNC:19778 RPL18AP1 ribosomal protein L18a pseudogene 1 pseudogene pseudogene Approved 14q32.12 14q32.12 2009-03-01 2014-11-19 326289 NG_002542 19123937 HGNC:19778 HGNC:23774 RPL18AP2 ribosomal protein L18a pseudogene 2 pseudogene pseudogene Approved 21q22.3 21q22.3 2003-12-15 2013-02-15 387494 ENSG00000225043 OTTHUMG00000154992 NG_009884 PGOHUM00000263773 HGNC:23774 @@ -32978,7 +32981,7 @@ HGNC:36874 RPL27P9 ribosomal protein L27 pseudogene 9 pseudogene pseudogene Appr HGNC:35494 RPL27P10 ribosomal protein L27 pseudogene 10 pseudogene pseudogene Approved 5p13.3 05p13.3 2009-03-06 2009-03-11 202122 NG_010719 19123937 HGNC:35494 HGNC:36533 RPL27P11 ribosomal protein L27 pseudogene 11 pseudogene pseudogene Approved 7q32.3 07q32.3 2009-03-06 2009-03-11 442723 NG_010513 19123937 HGNC:36533 HGNC:36736 RPL27P12 ribosomal protein L27 pseudogene 12 pseudogene pseudogene Approved 12q24.31 12q24.31 2009-03-06 2017-10-30 100271302 ENSG00000239215 OTTHUMG00000157804 NG_011023 19123937 PGOHUM00000291485 HGNC:36736 -HGNC:10330 RPL28 ribosomal protein L28 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ43307|L28|eL28" 60S ribosomal protein L28 "L ribosomal proteins|MicroRNA protein coding host genes" "729|1691" 1997-07-07 2023-03-10 6158 ENSG00000108107 OTTHUMG00000171991 uc002qkv.4 U14969 NM_000991 "CCDS46192|CCDS46191|CCDS46190|CCDS46189|CCDS12924|CCDS86809" P46779 "7772601|9582194" MGI:101839 RGD:621193 603638 HGNC:10330 "ENST00000344063.7|NM_000991.5" +HGNC:10330 RPL28 ribosomal protein L28 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ43307|L28|eL28" 60S ribosomal protein L28 "L ribosomal proteins|MicroRNA protein coding host genes" "729|1691" 1997-07-07 2023-03-10 6158 ENSG00000108107 OTTHUMG00000171991 uc002qkv.4 U14969 NM_000991 "CCDS46189|CCDS12924|CCDS46191|CCDS86809|CCDS46192|CCDS46190" P46779 "7772601|9582194" MGI:101839 RGD:621193 603638 HGNC:10330 "ENST00000344063.7|NM_000991.5" HGNC:31359 RPL28P1 ribosomal protein L28 pseudogene 1 pseudogene pseudogene Approved 3q26.2 03q26.2 bcm2489 2009-03-01 2022-11-03 402149 ENSG00000213174 NG_009516 19123937 HGNC:31359 HGNC:36234 RPL28P2 ribosomal protein L28 pseudogene 2 pseudogene pseudogene Approved 2q37.1 02q37.1 2009-03-06 2020-01-08 100270971 ENSG00000237641 NG_010634 19123937 HGNC:36234 HGNC:35973 RPL28P3 ribosomal protein L28 pseudogene 3 pseudogene pseudogene Approved 5q23.2 05q23.2 2009-03-06 2009-03-11 391828 NG_010782 19123937 HGNC:35973 @@ -33395,7 +33398,7 @@ HGNC:10355 RPL41P5 ribosomal protein L41 pseudogene 5 pseudogene pseudogene Appr HGNC:37655 RPL41P6 ribosomal protein L41 pseudogene 6 pseudogene pseudogene Approved Yq11.23 Yq11.23 2009-12-16 2011-01-17 286568 NG_004755 HGNC:37655 HGNC:37656 RPL41P7 ribosomal protein L41 pseudogene 7 pseudogene pseudogene Approved Yq11.23 Yq11.23 2009-12-16 2010-10-07 286570 NG_004755 HGNC:37656 HGNC:10371 RPLP0 ribosomal protein lateral stalk subunit P0 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "PRLP0|P0|L10E|RPP0|LP0|uL10" neutral ribosomal phosphoprotein P0 ribosomal protein, large, P0 L ribosomal proteins 729 1993-12-16 2016-03-03 2023-03-10 6175 ENSG00000089157 OTTHUMG00000169317 uc001txq.4 AB007187 NM_053275 CCDS9193 P05388 9582194 MGI:1927636 RGD:621247 180510 HGNC:10371 "ENST00000392514.9|NM_001002.4" -HGNC:10372 RPLP1 ribosomal protein lateral stalk subunit P1 protein-coding gene gene with protein product Approved 15q23 15q23 LP1 ribosomal protein, large, P1 L ribosomal proteins 729 1993-12-16 2016-03-03 2023-01-20 6176 ENSG00000137818 OTTHUMG00000172087 uc002asd.2 NM_001003 "CCDS10233|CCDS10234" P05386 MGI:1927099 RGD:621774 180520 HGNC:10372 "ENST00000260379.11|NM_001003.3" +HGNC:10372 RPLP1 ribosomal protein lateral stalk subunit P1 protein-coding gene gene with protein product Approved 15q23 15q23 LP1 ribosomal protein, large, P1 L ribosomal proteins 729 1993-12-16 2016-03-03 2023-01-20 6176 ENSG00000137818 OTTHUMG00000172087 uc002asd.2 NM_001003 "CCDS10234|CCDS10233" P05386 MGI:1927099 RGD:621774 180520 HGNC:10372 "ENST00000260379.11|NM_001003.3" HGNC:19793 RPLP1P1 ribosomal protein lateral stalk subunit P1 pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 ribosomal protein, large, P1 pseudogene 1 2009-03-01 2016-03-03 2016-03-03 145499 NG_002526 19123937 HGNC:19793 HGNC:36210 RPLP1P2 ribosomal protein lateral stalk subunit P1 pseudogene 2 pseudogene pseudogene Approved 1q43 01q43 ribosomal protein, large, P1 pseudogene 2 2009-03-06 2016-03-03 2016-03-03 729138 NG_006638 19123937 HGNC:36210 HGNC:36870 RPLP1P3 ribosomal protein lateral stalk subunit P1 pseudogene 3 pseudogene pseudogene Approved 1q24.3 01q24.3 ribosomal protein, large, P1 pseudogene 3 2009-03-06 2016-03-03 2016-03-03 127099 NG_010637 19123937 HGNC:36870 @@ -33430,13 +33433,13 @@ HGNC:55907 RPLP0P12 ribosomal protein lateral stalk subunit P0 pseudogene 12 pse HGNC:10381 RPN1 ribophorin I protein-coding gene gene with protein product Approved 3q21.3 03q21.3 OST1 "oligosaccharyltransferase 1 homolog (S. cerevisiae)|oligosaccharyltransferase complex subunit (non-catalytic)" Oligosaccharyltransferase complex subunits 445 2001-06-22 2023-01-20 6184 ENSG00000163902 OTTHUMG00000159691 uc003ekr.2 NM_002950 CCDS3051 P04843 MGI:98084 RGD:3594 RPN1 180470 409866 HGNC:10381 "ENST00000296255.8|NM_002950.4" HGNC:10382 RPN2 ribophorin II protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "SWP1|RPNII|RIBIIR|RPN-II" oligosaccharyltransferase complex subunit (non-catalytic) Oligosaccharyltransferase complex subunits 445 2001-06-22 2023-01-20 6185 ENSG00000118705 OTTHUMG00000032409 uc002xgp.4 Y00282 NM_002951 "CCDS46599|CCDS13291" P04844 MGI:98085 RGD:62075 180490 HGNC:10382 "ENST00000237530.11|NM_002951.5" HGNC:30327 RPP14 ribonuclease P/MRP subunit p14 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 P14 "ribonuclease P 14kDa subunit|ribonuclease P/MRP 14kDa subunit" 2004-03-17 2016-04-05 2023-01-20 11102 ENSG00000163684 OTTHUMG00000159152 uc010hnh.4 AF001175 NM_007042 CCDS2888 O95059 "10024167|11929972" MGI:1914303 RGD:1305436 606112 HGNC:30327 "ENST00000295959.10|NM_007042.6" -HGNC:21300 RPP21 ribonuclease P/MRP subunit p21 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "FLJ22638|Em:AB014085.3" C6orf135 "chromosome 6 open reading frame 135|ribonuclease P 21kDa subunit|ribonuclease P/MRP 21kDa subunit" 2003-06-02 2004-03-19 2016-04-05 2023-01-20 79897 ENSG00000241370 OTTHUMG00000031220 uc021zot.2 AK026291 NM_024839 "CCDS56410|CCDS4679|CCDS56409" Q9H633 MGI:1914926 RGD:1303090 612524 HGNC:21300 "ENST00000442966.7|NM_024839.4" +HGNC:21300 RPP21 ribonuclease P/MRP subunit p21 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "FLJ22638|Em:AB014085.3" C6orf135 "chromosome 6 open reading frame 135|ribonuclease P 21kDa subunit|ribonuclease P/MRP 21kDa subunit" 2003-06-02 2004-03-19 2016-04-05 2023-01-20 79897 ENSG00000241370 OTTHUMG00000031220 uc021zot.2 AK026291 NM_024839 "CCDS56409|CCDS56410|CCDS4679" Q9H633 MGI:1914926 RGD:1303090 612524 HGNC:21300 "ENST00000442966.7|NM_024839.4" HGNC:30361 RPP25 ribonuclease P and MRP subunit p25 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 FLJ20374 RNase P protein subunit p25 "ribonuclease P 25kDa subunit|ribonuclease P/MRP 25kDa subunit|ribonuclease P/MRP subunit p25" 2004-03-17 2017-01-19 2023-01-20 54913 ENSG00000178718 OTTHUMG00000142822 uc002azj.2 AY034074 NM_017793 CCDS10274 Q9BUL9 12003489 MGI:2143151 RGD:1305290 619235 HGNC:30361 "ENST00000322177.6|NM_017793.3" HGNC:19909 RPP25L ribonuclease P/MRP subunit p25 like protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA296L22.5|MGC29635" C9orf23 "chromosome 9 open reading frame 23|ribonuclease P/MRP 25kDa subunit-like" 2002-12-03 2012-03-06 2016-04-05 2023-01-20 138716 ENSG00000164967 OTTHUMG00000000443 uc003zuv.4 BC032136 NM_148179 CCDS6559 Q8N5L8 16998185 MGI:1917211 RGD:1306576 HGNC:19909 "ENST00000378959.9|NM_148178.3" HGNC:17688 RPP30 ribonuclease P/MRP subunit p30 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 TSG15 ribonuclease P protein subunit p30 ribonuclease P/MRP 30kDa subunit 2004-03-17 2016-04-05 2023-01-20 10556 ENSG00000148688 OTTHUMG00000018733 uc009xtx.4 BC006991 NM_006413 "CCDS44458|CCDS7411" P78346 "9037013|9308968" MGI:1859683 RGD:1595116 606115 HGNC:17688 "ENST00000371703.8|NM_006413.5" HGNC:30329 RPP38 ribonuclease P/MRP subunit p38 protein-coding gene gene with protein product Approved 10p13 10p13 ribonuclease P/MRP 38kDa subunit 2004-03-17 2016-04-05 2023-01-20 10557 ENSG00000152464 OTTHUMG00000017728 uc031pth.2 U77664 NM_006414 CCDS7108 P78345 "9037013|9630247" MGI:2443607 RGD:1307474 606116 HGNC:30329 "ENST00000378197.5|NM_183005.5" HGNC:28582 RPP38-DT RPP38 divergent transcript non-coding RNA RNA, long non-coding Approved 10p13 10p13 "MGC35468|bA455B2.4" C10orf111 chromosome 10 open reading frame 111 Divergent transcripts 1990 2004-04-20 2019-03-01 2019-03-01 2023-03-15 221060 ENSG00000176236 OTTHUMG00000017727 uc001inw.4 BC029034 NR_160789 Q8N326 12477932 HGNC:28582 -HGNC:20992 RPP40 ribonuclease P/MRP subunit p40 protein-coding gene gene with protein product Approved 6p25.1 06p25.1 bA428J1.3 RNASEP1 "ribonuclease P1|ribonuclease P 40kDa subunit|ribonuclease P/MRP 40kDa subunit" 2003-04-30 2004-03-19 2016-04-05 2023-01-20 10799 ENSG00000124787 OTTHUMG00000014168 uc003mwl.5 U94317 NM_006638 "CCDS69040|CCDS75391|CCDS34333" O75818 9630247 MGI:1346084 RGD:1310228 606117 HGNC:20992 "ENST00000380051.7|NM_006638.4" +HGNC:20992 RPP40 ribonuclease P/MRP subunit p40 protein-coding gene gene with protein product Approved 6p25.1 06p25.1 bA428J1.3 RNASEP1 "ribonuclease P1|ribonuclease P 40kDa subunit|ribonuclease P/MRP 40kDa subunit" 2003-04-30 2004-03-19 2016-04-05 2023-01-20 10799 ENSG00000124787 OTTHUMG00000014168 uc003mwl.5 U94317 NM_006638 "CCDS75391|CCDS34333|CCDS69040" O75818 9630247 MGI:1346084 RGD:1310228 606117 HGNC:20992 "ENST00000380051.7|NM_006638.4" HGNC:39769 RPP40P1 ribonuclease P/MRP subunit p40 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 ribonuclease P/MRP 40kDa subunit pseudogene 1 2011-03-29 2016-04-05 2016-04-05 100874225 ENSG00000229310 OTTHUMG00000021279 NG_032356 PGOHUM00000241214 HGNC:39769 HGNC:39770 RPP40P2 ribonuclease P/MRP subunit p40 pseudogene 2 pseudogene pseudogene Approved 13q21.2 13q21.2 ribonuclease P/MRP 40kDa subunit pseudogene 2 2011-03-29 2016-04-05 2016-04-05 100420608 ENSG00000271190 OTTHUMG00000184864 NG_024931 PGOHUM00000258725 HGNC:39770 HGNC:19273 RPPH1 ribonuclease P RNA component H1 non-coding RNA RNA, misc Approved 14q11.2 14q11.2 "H1RNA|RPPH1-1" 2004-03-17 2015-01-30 85495 ENSG00000277209 OTTHUMG00000170789 uc001vxa.2 X15624 NR_002312 "7916700|2470644" MGI:1934664 RGD:3580 608513 HGNC:19273 @@ -33602,18 +33605,18 @@ HGNC:35960 RPS5P6 RPS5 pseudogene 6 pseudogene pseudogene Approved 9p24.1 09p24. HGNC:36881 RPS5P7 RPS5 pseudogene 7 pseudogene pseudogene Approved Xq23 Xq23 ribosomal protein S5 pseudogene 7 2009-03-06 2020-04-17 2020-04-17 392520 ENSG00000225381 OTTHUMG00000022191 NG_010389 19123937 PGOHUM00000241946 HGNC:36881 HGNC:36531 RPS5P8 RPS5 pseudogene 8 pseudogene pseudogene Approved Xp22.31 Xp22.31 ribosomal protein S5 pseudogene 8 2009-03-06 2020-04-17 2020-04-17 392424 ENSG00000237730 NG_011198 19123937 HGNC:36531 HGNC:10429 RPS6 ribosomal protein S6 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 "S6|eS6" "40S ribosomal protein S6|phosphoprotein NP33" S ribosomal proteins 728 1990-07-06 2023-03-10 6194 ENSG00000137154 OTTHUMG00000019642 uc003znv.2 NM_001010 CCDS6492 P62753 1577483 MGI:98159 RGD:3602 180460 ligandId:5256 HGNC:10429 "ENST00000380394.9|NM_001010.3" -HGNC:10430 RPS6KA1 ribosomal protein S6 kinase A1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "RSK1|HU-1|p90Rsk|MAPKAPK1" ribosomal protein S6 kinase, 90kD, polypeptide 1 "MAPK activated protein kinases|AGC family kinases|MicroRNA protein coding host genes" "1156|1625|1691" 1994-07-11 2016-03-01 2023-01-20 6195 ENSG00000117676 OTTHUMG00000004003 uc001bmr.2 BC014966 NM_002953 "CCDS81286|CCDS284|CCDS30649" Q15418 "8141249|11049854" MGI:104558 RGD:620675 601684 objectId:1527 HGNC:10430 "ENST00000374168.7|NM_002953.4" -HGNC:10431 RPS6KA2 ribosomal protein S6 kinase A2 protein-coding gene gene with protein product Approved 6q27 06q27 "RSK3|HU-2" ribosomal protein S6 kinase, 90kD, polypeptide 2 "MAPK activated protein kinases|AGC family kinases|MicroRNA protein coding host genes" "1156|1625|1691" 1994-07-11 2016-03-01 2023-01-20 6196 ENSG00000071242 OTTHUMG00000016007 uc003qvb.2 L07598 NM_021135 "CCDS83147|CCDS83148|CCDS5294|CCDS34570" Q15349 8141249 MGI:1342290 RGD:620676 601685 objectId:1529 HGNC:10431 "ENST00000265678.9|NM_021135.6" +HGNC:10430 RPS6KA1 ribosomal protein S6 kinase A1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "RSK1|HU-1|p90Rsk|MAPKAPK1" ribosomal protein S6 kinase, 90kD, polypeptide 1 "MAPK activated protein kinases|AGC family kinases|MicroRNA protein coding host genes" "1156|1625|1691" 1994-07-11 2016-03-01 2023-01-20 6195 ENSG00000117676 OTTHUMG00000004003 uc001bmr.2 BC014966 NM_002953 "CCDS284|CCDS81286|CCDS30649" Q15418 "8141249|11049854" MGI:104558 RGD:620675 601684 objectId:1527 HGNC:10430 "ENST00000374168.7|NM_002953.4" +HGNC:10431 RPS6KA2 ribosomal protein S6 kinase A2 protein-coding gene gene with protein product Approved 6q27 06q27 "RSK3|HU-2" ribosomal protein S6 kinase, 90kD, polypeptide 2 "MAPK activated protein kinases|AGC family kinases|MicroRNA protein coding host genes" "1156|1625|1691" 1994-07-11 2016-03-01 2023-01-20 6196 ENSG00000071242 OTTHUMG00000016007 uc003qvb.2 L07598 NM_021135 "CCDS34570|CCDS83147|CCDS83148|CCDS5294" Q15349 8141249 MGI:1342290 RGD:620676 601685 objectId:1529 HGNC:10431 "ENST00000265678.9|NM_021135.6" HGNC:40511 RPS6KA2-AS1 RPS6KA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q27 06q27 RPS6KA2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-25 2012-08-15 2018-09-07 100861523 ENSG00000231654 OTTHUMG00000016006 uc032xsy.2 "AA707471|AW290888" NR_046644 19287968 rps6ka2-antisense-transcript RPS6KA2-AS1 HGNC:40511 HGNC:41378 RPS6KA2-IT1 RPS6KA2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6q27 06q27 RPS6KA2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874353 ENSG00000232082 OTTHUMG00000046164 uc031src.1 NR_046793 RPS6KA2-IT1 HGNC:41378 HGNC:10432 RPS6KA3 ribosomal protein S6 kinase A3 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "RSK2|HU-3" "MRX19|CLS" ribosomal protein S6 kinase, 90kD, polypeptide 3 "MAPK activated protein kinases|AGC family kinases" "1156|1625" 1994-07-11 2016-03-01 2023-01-20 6197 ENSG00000177189 OTTHUMG00000021231 uc004czu.4 U08316 NM_004586 CCDS14197 P51812 "8141249|11896450|16879200" MGI:104557 RGD:1563860 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPS6KA3 300075 118405 objectId:1528 HGNC:10432 "ENST00000379565.9|NM_004586.3" HGNC:10432 HGNC:10433 RPS6KA4 ribosomal protein S6 kinase A4 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "RSK-B|MSK2" ribosomal protein S6 kinase, 90kD, polypeptide 4 "MAPK activated protein kinases|AGC family kinases|MicroRNA protein coding host genes" "1156|1625|1691" 1999-03-10 2016-03-01 2023-01-20 8986 ENSG00000162302 OTTHUMG00000046094 uc001oae.4 AJ010119 NM_003942 "CCDS8073|CCDS73313" O75676 "9792677|9687510" MGI:1930076 RGD:1307277 603606 objectId:1524 HGNC:10433 "ENST00000334205.9|NM_003942.3" -HGNC:10434 RPS6KA5 ribosomal protein S6 kinase A5 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "MSK1|RLPK" ribosomal protein S6 kinase, 90kD, polypeptide 5 "MAPK activated protein kinases|AGC family kinases" "1156|1625" 1999-03-10 2016-03-01 2023-01-20 9252 ENSG00000100784 OTTHUMG00000171055 uc001xys.4 AF074393 NM_004755 "CCDS81839|CCDS9893|CCDS45149" O75582 "9687510|10702687" MGI:1920336 RGD:1308336 603607 objectId:1523 HGNC:10434 "ENST00000614987.5|NM_004755.4" +HGNC:10434 RPS6KA5 ribosomal protein S6 kinase A5 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "MSK1|RLPK" ribosomal protein S6 kinase, 90kD, polypeptide 5 "MAPK activated protein kinases|AGC family kinases" "1156|1625" 1999-03-10 2016-03-01 2023-01-20 9252 ENSG00000100784 OTTHUMG00000171055 uc001xys.4 AF074393 NM_004755 "CCDS45149|CCDS81839|CCDS9893" O75582 "9687510|10702687" MGI:1920336 RGD:1308336 603607 objectId:1523 HGNC:10434 "ENST00000614987.5|NM_004755.4" HGNC:10435 RPS6KA6 ribosomal protein S6 kinase A6 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 RSK4 ribosomal protein S6 kinase, 90kD, polypeptide 6 "MAPK activated protein kinases|AGC family kinases" "1156|1625" 2000-02-17 2016-03-01 2023-01-20 27330 ENSG00000072133 OTTHUMG00000021923 uc004eej.3 AF184965 NM_014496 "CCDS83480|CCDS14451" Q9UK32 10644430 MGI:1914321 RGD:1560817 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPS6KA6 300303 objectId:1530 HGNC:10435 "ENST00000262752.5|NM_014496.5" -HGNC:10436 RPS6KB1 ribosomal protein S6 kinase B1 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "S6K1|p70(S6K)-alpha|PS6K|S6K" STK14A ribosomal protein S6 kinase, 70kD, polypeptide 1 AGC family kinases 1625 1994-07-11 2016-03-01 2023-01-20 6198 ENSG00000108443 OTTHUMG00000150642 uc002ixy.5 M60724 NM_003161 "CCDS62271|CCDS62273|CCDS11621|CCDS62272" P23443 1922062 MGI:1270849 RGD:620683 608938 objectId:1525 HGNC:10436 "ENST00000225577.9|NM_003161.4" +HGNC:10436 RPS6KB1 ribosomal protein S6 kinase B1 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "S6K1|p70(S6K)-alpha|PS6K|S6K" STK14A ribosomal protein S6 kinase, 70kD, polypeptide 1 AGC family kinases 1625 1994-07-11 2016-03-01 2023-01-20 6198 ENSG00000108443 OTTHUMG00000150642 uc002ixy.5 M60724 NM_003161 "CCDS11621|CCDS62271|CCDS62273|CCDS62272" P23443 1922062 MGI:1270849 RGD:620683 608938 objectId:1525 HGNC:10436 "ENST00000225577.9|NM_003161.4" HGNC:10437 RPS6KB2 ribosomal protein S6 kinase B2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "p70S6Kb|P70-BETA|STK14B|KLS|S6KB|S6Kbeta|S6Kβ" ribosomal protein S6 kinase, 70kD, polypeptide 2 AGC family kinases 1625 1994-07-13 2016-03-01 2023-01-20 6199 ENSG00000175634 OTTHUMG00000167673 uc001old.4 AB019245 NM_003952 CCDS41677 Q9UBS0 "9878560|9804755" MGI:1927343 RGD:1305144 608939 objectId:1526 HGNC:10437 "ENST00000312629.10|NM_003952.3" HGNC:53744 RPS6KB2-AS1 RPS6KB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 AP003419.16 Antisense RNAs 1987 2017-09-28 2017-10-06 111216279 ENSG00000255949 OTTHUMG00000168038 28944926 -HGNC:10439 RPS6KC1 ribosomal protein S6 kinase C1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "humS6PKh1|RSKL1" ribosomal protein S6 kinase, 52kD, polypeptide 1 AGC family kinases 1625 1999-12-14 2016-03-01 2023-01-20 26750 ENSG00000136643 OTTHUMG00000036926 uc010ptr.4 AF037447 NM_012424 "CCDS44317|CCDS73028|CCDS73029|CCDS1513|CCDS73030" Q96S38 10552933 MGI:2443419 RGD:1306578 617517 objectId:1532 HGNC:10439 "ENST00000366960.8|NM_012424.6" HGNC:10439 +HGNC:10439 RPS6KC1 ribosomal protein S6 kinase C1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "humS6PKh1|RSKL1" ribosomal protein S6 kinase, 52kD, polypeptide 1 AGC family kinases 1625 1999-12-14 2016-03-01 2023-01-20 26750 ENSG00000136643 OTTHUMG00000036926 uc010ptr.4 AF037447 NM_012424 "CCDS1513|CCDS73029|CCDS73028|CCDS73030|CCDS44317" Q96S38 10552933 MGI:2443419 RGD:1306578 617517 objectId:1532 HGNC:10439 "ENST00000366960.8|NM_012424.6" HGNC:10439 HGNC:20222 RPS6KL1 ribosomal protein S6 kinase like 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "MGC11287|RSKL2" ribosomal protein S6 kinase-like 1 AGC family kinases 1625 2003-01-15 2015-11-17 2023-01-20 83694 ENSG00000198208 OTTHUMG00000171484 uc010tux.3 BC004540 NM_001370252 CCDS9834 Q9Y6S9 MGI:2443413 RGD:1309493 objectId:1533 HGNC:20222 "ENST00000557413.6|NM_031464.5" HGNC:32478 RPS6P1 ribosomal protein S6 pseudogene 1 pseudogene pseudogene Approved 12p13.1 12p13.1 2009-03-01 2014-11-18 440086 NG_009657 19123937 HGNC:32478 HGNC:36446 RPS6P2 ribosomal protein S6 pseudogene 2 pseudogene pseudogene Approved 2q31.2 02q31.2 2009-03-06 2013-09-23 100270864 ENSG00000231541 OTTHUMG00000154556 NG_010058 19123937 PGOHUM00000241034 HGNC:36446 @@ -33764,7 +33767,7 @@ HGNC:36961 RPS14P7 ribosomal protein S14 pseudogene 7 pseudogene pseudogene Appr HGNC:37027 RPS14P8 ribosomal protein S14 pseudogene 8 pseudogene pseudogene Approved 5q23.1 05q23.1 2009-03-06 2014-07-29 644146 ENSG00000239528 OTTHUMG00000157827 NG_010268 19123937 PGOHUM00000301097 HGNC:37027 HGNC:36286 RPS14P9 ribosomal protein S14 pseudogene 9 pseudogene pseudogene Approved 6q15 06q15 2009-03-06 2009-03-11 644119 NG_009572 19123937 HGNC:36286 HGNC:35517 RPS14P10 ribosomal protein S14 pseudogene 10 pseudogene pseudogene Approved 7q32.3 07q32.3 2009-03-06 2009-03-11 647034 NG_006544 19123937 HGNC:35517 -HGNC:10388 RPS15 ribosomal protein S15 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "RIG|MGC111130|S15|uS19" "40S ribosomal protein S15|homolog of rat insulinoma|insulinoma protein" S ribosomal proteins 728 1992-04-16 2023-03-10 6209 ENSG00000115268 OTTHUMG00000140099 uc060rbb.1 NM_001018 "CCDS12067|CCDS77210" P62841 2159154 MGI:98117 RGD:62026 180535 451578 HGNC:10388 "ENST00000592588.7|NM_001018.5" +HGNC:10388 RPS15 ribosomal protein S15 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "RIG|MGC111130|S15|uS19" "40S ribosomal protein S15|homolog of rat insulinoma|insulinoma protein" S ribosomal proteins 728 1992-04-16 2023-03-10 6209 ENSG00000115268 OTTHUMG00000140099 uc060rbb.1 NM_001018 "CCDS77210|CCDS12067" P62841 2159154 MGI:98117 RGD:62026 180535 451578 HGNC:10388 "ENST00000592588.7|NM_001018.5" HGNC:10389 RPS15A ribosomal protein S15a protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "S15A|uS8" S ribosomal proteins 728 1998-08-18 2023-03-10 6210 ENSG00000134419 OTTHUMG00000131365 uc002dfh.2 AB007154 NM_001019 CCDS10571 P62244 9582194 MGI:2389091 RGD:619939 603674 HGNC:10389 "ENST00000322989.8|NM_001019.5" HGNC:10389 HGNC:16598 RPS15AP1 ribosomal protein S15a pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ872K7.6 2009-03-01 2014-11-19 92682 ENSG00000214535 OTTHUMG00000032016 NG_000951 19123937 PGOHUM00000247461 HGNC:16598 HGNC:19671 RPS15AP2 ribosomal protein S15a pseudogene 2 pseudogene pseudogene Approved 14q22.1 14q22.1 2009-03-01 2014-11-19 326316 NG_002566 19123937 HGNC:19671 @@ -33924,7 +33927,7 @@ HGNC:43899 RPS23P7 ribosomal protein S23 pseudogene 7 pseudogene pseudogene Appr HGNC:35982 RPS23P8 ribosomal protein S23 pseudogene 8 pseudogene pseudogene Approved Xq13.1 Xq13.1 2009-03-06 2015-08-24 653658 ENSG00000230629 OTTHUMG00000021781 NG_009491 19123937 PGOHUM00000305131 HGNC:35982 HGNC:48341 RPS23P9 ribosomal protein S23 pseudogene 9 pseudogene pseudogene Approved 1q23.3 01q23.3 2013-05-09 2015-08-24 100419472 ENSG00000231586 OTTHUMG00000074097 NG_027007 PGOHUM00000295934 HGNC:48341 HGNC:48342 RPS23P10 ribosomal protein S23 pseudogene 10 pseudogene pseudogene Approved 1q23.3 01q23.3 2013-05-09 2015-08-24 100419471 ENSG00000224203 OTTHUMG00000034471 NG_027006 PGOHUM00000295933 HGNC:48342 -HGNC:10411 RPS24 ribosomal protein S24 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "S24|eS24" S ribosomal proteins 728 1990-08-22 2023-01-20 6229 ENSG00000138326 OTTHUMG00000018549 uc001jzq.4 AB007159 NM_001026 "CCDS86122|CCDS86123|CCDS86124|CCDS44443|CCDS7356|CCDS7355" P62847 "9027498|9582194" MGI:98147 RGD:621040 "Diamond-Blackfan Anemia|http://www.dbagenes.unito.it/home.php?select_db=RPS24|LRG_1145|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1145.xml" 602412 118403 HGNC:10411 "ENST00000372360.9|NM_033022.4" HGNC:10411 +HGNC:10411 RPS24 ribosomal protein S24 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "S24|eS24" S ribosomal proteins 728 1990-08-22 2023-01-20 6229 ENSG00000138326 OTTHUMG00000018549 uc001jzq.4 AB007159 NM_001026 "CCDS86122|CCDS86123|CCDS7356|CCDS44443|CCDS7355|CCDS86124" P62847 "9027498|9582194" MGI:98147 RGD:621040 "Diamond-Blackfan Anemia|http://www.dbagenes.unito.it/home.php?select_db=RPS24|LRG_1145|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1145.xml" 602412 118403 HGNC:10411 "ENST00000372360.9|NM_033022.4" HGNC:10411 HGNC:10412 RPS24P1 ribosomal protein S24 pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 RPS24P ribosomal protein S24 pseudogene 1999-10-28 2001-12-14 2001-12-10 2014-11-18 23756 ENSG00000236477 OTTHUMG00000036383 NG_000893 PGOHUM00000233952 HGNC:10412 HGNC:19791 RPS24P2 ribosomal protein S24 pseudogene 2 pseudogene pseudogene Approved 14q24.3 14q24.3 2009-03-01 2014-11-18 326321 NG_002571 19123937 HGNC:19791 HGNC:19797 RPS24P3 ribosomal protein S24 pseudogene 3 pseudogene pseudogene Approved 14q31.1 14q31.1 2009-03-01 2014-11-19 326322 NG_002572 19123937 HGNC:19797 @@ -34078,7 +34081,7 @@ HGNC:36085 RPS28P6 ribosomal protein S28 pseudogene 6 pseudogene pseudogene Appr HGNC:35787 RPS28P7 ribosomal protein S28 pseudogene 7 pseudogene pseudogene Approved 11q14.1 11q14.1 2009-03-06 2014-06-17 646195 ENSG00000227097 OTTHUMG00000158427 NG_005980 19123937 HGNC:35787 HGNC:36938 RPS28P8 ribosomal protein S28 pseudogene 8 pseudogene pseudogene Approved 13q14.11 13q14.11 2009-03-06 2011-03-15 100271381 ENSG00000226093 OTTHUMG00000016798 NG_010096 19123937 PGOHUM00000248574 HGNC:36938 HGNC:36193 RPS28P9 ribosomal protein S28 pseudogene 9 pseudogene pseudogene Approved 17p11.1 17p11.1 2009-03-06 2009-03-11 650788 NG_010195 19123937 HGNC:36193 -HGNC:10419 RPS29 ribosomal protein S29 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "S29|uS14" S ribosomal proteins 728 1997-07-04 2023-01-20 6235 ENSG00000213741 OTTHUMG00000140272 uc001wwm.5 L31610 NM_001030001 "CCDS32072|CCDS9685|CCDS86388" P62273 "8781548|7772601" MGI:107681 RGD:3596 LRG_1147|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1147.xml 603633 406759 HGNC:10419 "ENST00000245458.11|NM_001032.5" HGNC:10419 +HGNC:10419 RPS29 ribosomal protein S29 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "S29|uS14" S ribosomal proteins 728 1997-07-04 2023-01-20 6235 ENSG00000213741 OTTHUMG00000140272 uc001wwm.5 L31610 NM_001030001 "CCDS86388|CCDS32072|CCDS9685" P62273 "8781548|7772601" MGI:107681 RGD:3596 LRG_1147|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1147.xml 603633 406759 HGNC:10419 "ENST00000245458.11|NM_001032.5" HGNC:10419 HGNC:19783 RPS29P1 ribosomal protein S29 pseudogene 1 pseudogene pseudogene Approved 14q24.1 14q24.1 2009-03-01 2016-07-28 122449 ENSG00000242293 OTTHUMG00000157974 NG_002523 19123937 PGOHUM00000292393 HGNC:19783 HGNC:31083 RPS29P2 ribosomal protein S29 pseudogene 2 pseudogene pseudogene Approved 8p11.21 08p11.21 HsT23291 2009-03-01 2016-07-28 619452 ENSG00000239281 OTTHUMG00000158607 NG_009781 19123937 PGOHUM00000303515 HGNC:31083 HGNC:31363 RPS29P3 ribosomal protein S29 pseudogene 3 pseudogene pseudogene Approved 3q29 03q29 bcm2758 2009-03-01 2016-07-28 642892 ENSG00000225770 OTTHUMG00000155584 AC092933 NG_009392 19123937 PGOHUM00000299712 HGNC:31363 @@ -34112,7 +34115,7 @@ HGNC:52363 RPS29P30 ribosomal protein S29 pseudogene 30 pseudogene pseudogene Ap HGNC:52364 RPS29P31 ribosomal protein S29 pseudogene 31 pseudogene pseudogene Approved 22q13.1 22q13.1 2016-07-29 2020-04-06 109729124 ENSG00000224279 OTTHUMG00000155623 NG_052941 PGOHUM00000297537 HGNC:52364 HGNC:52365 RPS29P32 ribosomal protein S29 pseudogene 32 pseudogene pseudogene Approved 6q23.2 06q23.2 2016-07-29 2020-04-06 109729158 ENSG00000276703 OTTHUMG00000187663 NG_052942 PGOHUM00000301955 HGNC:52365 HGNC:52366 RPS29P33 ribosomal protein S29 pseudogene 33 pseudogene pseudogene Approved 9p22.2 09p22.2 2016-07-29 2016-07-29 107987018 ENSG00000226470 OTTHUMG00000019595 PGOHUM00000303740 HGNC:52366 -HGNC:6502 RPSA ribosomal protein SA protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "LRP|37LRP|p40|SA|uS2" LAMR1 laminin receptor 1 (67kD, ribosomal protein SA) "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1992-06-03 2005-02-11 2002-08-29 2023-03-10 3921 ENSG00000168028 OTTHUMG00000131296 uc003cjp.4 S37431 NM_002295 "CCDS77723|CCDS2686" P08865 "1534510|8760291" MGI:105381 RGD:71026 LRG_735|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_735.xml 150370 357229 HGNC:6502 "ENST00000301821.11|NM_002295.6" HGNC:6502 +HGNC:6502 RPSA ribosomal protein SA protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "LRP|37LRP|p40|SA|uS2" LAMR1 laminin receptor 1 (67kD, ribosomal protein SA) "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1992-06-03 2005-02-11 2002-08-29 2023-03-10 3921 ENSG00000168028 OTTHUMG00000131296 uc003cjp.4 S37431 NM_002295 "CCDS2686|CCDS77723" P08865 "1534510|8760291" MGI:105381 RGD:71026 LRG_735|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_735.xml 150370 357229 HGNC:6502 "ENST00000301821.11|NM_002295.6" HGNC:6502 HGNC:36809 RPSA2 ribosomal protein SA 2 protein-coding gene gene with protein product Approved 19p12 19p12 RPSAP58 ribosomal protein SA pseudogene 58 2009-03-06 2022-09-16 2022-09-16 2023-01-20 388524 ENSG00000288920 OTTHUMG00000158122 NM_001355283 CCDS92575 A0A8I5KQE6 19123937 HGNC:36809 "ENST00000484897.4|NM_001355283.3" HGNC:16560 RPSAP1 ribosomal protein SA pseudogene 1 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ1193N1.1 "LAMR1P|LAMR1P1" laminin receptor 1 pseudogene 1 2009-03-01 2006-01-16 2006-01-16 2015-08-24 170529 ENSG00000228820 OTTHUMG00000032746 AL121915 NG_001045 19123937 PGOHUM00000297020 HGNC:16560 HGNC:18771 RPSAP2 ribosomal protein SA pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 bA60E24.1 LAMR1P2 laminin receptor 1 pseudogene 2 2009-03-01 2006-01-16 2006-01-16 2015-08-24 442181 ENSG00000237425 OTTHUMG00000147353 NG_009790 19123937 PGOHUM00000301718 HGNC:18771 @@ -34190,9 +34193,9 @@ HGNC:51928 RPSAP74 ribosomal protein SA pseudogene 74 pseudogene pseudogene Appr HGNC:51929 RPSAP75 ribosomal protein SA pseudogene 75 pseudogene pseudogene Approved 9q21.13 09q21.13 2015-10-06 2020-04-06 107075114 ENSG00000270954 OTTHUMG00000184697 NG_046554 PGOHUM00000304327 HGNC:51929 HGNC:51930 RPSAP76 ribosomal protein SA pseudogene 76 pseudogene pseudogene Approved 9q33.3 09q33.3 2015-10-06 2015-10-06 101927006 ENSG00000235332 OTTHUMG00000020670 PGOHUM00000304053 HGNC:51930 HGNC:26809 RPTN repetin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ39117 "EF-hand domain containing|S100 fused type protein family" "863|1350" 2005-06-13 2023-01-20 126638 ENSG00000215853 OTTHUMG00000154095 uc001ezs.1 AK096436 NM_001122965 CCDS41397 Q6XPR3 15854042 MGI:1099055 RGD:1311687 613259 HGNC:26809 "ENST00000316073.3|NM_001122965.1" -HGNC:30287 RPTOR regulatory associated protein of MTOR complex 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KOG1|Mip1|KIAA1303|raptor" regulatory associated protein of mTOR regulatory associated protein of MTOR, complex 1 "WD repeat domain containing|MTOR complex 1|Armadillo like helical domain containing" "362|1332|1492" 2009-05-29 2016-04-01 2023-01-20 57521 ENSG00000141564 OTTHUMG00000177622 uc002jyt.2 NM_020761 "CCDS54175|CCDS11773" Q8N122 "10718198|12150926" MGI:1921620 RGD:1311784 607130 471010 HGNC:30287 "ENST00000306801.8|NM_020761.3" +HGNC:30287 RPTOR regulatory associated protein of MTOR complex 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KOG1|Mip1|KIAA1303|raptor" regulatory associated protein of mTOR regulatory associated protein of MTOR, complex 1 "WD repeat domain containing|MTOR complex 1|Armadillo like helical domain containing" "362|1332|1492" 2009-05-29 2016-04-01 2023-01-20 57521 ENSG00000141564 OTTHUMG00000177622 uc002jyt.2 NM_020761 "CCDS11773|CCDS54175" Q8N122 "10718198|12150926" MGI:1921620 RGD:1311784 607130 471010 HGNC:30287 "ENST00000306801.8|NM_020761.3" HGNC:14173 RPUSD1 RNA pseudouridine synthase domain containing 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "RLUCL|MGC19600" C16orf40 "chromosome 16 open reading frame 40|RNA pseudouridylate synthase domain containing 1" "RNA pseudouridylate synthase domain containing|Pseudouridine synthases" "727|1665" 2000-12-21 2005-01-31 2018-09-12 2023-01-20 113000 ENSG00000007376 OTTHUMG00000047840 uc002ckb.3 AE006465 NM_058192 "CCDS81924|CCDS81923|CCDS10426" Q9UJJ7 MGI:1919186 RGD:1304934 HGNC:14173 "ENST00000007264.7|NM_058192.3" -HGNC:24180 RPUSD2 RNA pseudouridine synthase domain containing 2 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "C18B11|FLJ31409|PUS9" C15orf19 "chromosome 15 open reading frame 19|RNA pseudouridylate synthase domain containing 2" "RNA pseudouridylate synthase domain containing|Pseudouridine synthases" "727|1665" 2004-07-02 2005-02-07 2018-09-12 2023-01-20 27079 ENSG00000166133 OTTHUMG00000130031 uc001zmd.3 AK055971 NM_152260 "CCDS66737|CCDS10061" Q8IZ73 12477932 MGI:1918066 RGD:1306147 HGNC:24180 "ENST00000315616.12|NM_152260.3" +HGNC:24180 RPUSD2 RNA pseudouridine synthase domain containing 2 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "C18B11|FLJ31409|PUS9" C15orf19 "chromosome 15 open reading frame 19|RNA pseudouridylate synthase domain containing 2" "RNA pseudouridylate synthase domain containing|Pseudouridine synthases" "727|1665" 2004-07-02 2005-02-07 2018-09-12 2023-01-20 27079 ENSG00000166133 OTTHUMG00000130031 uc001zmd.3 AK055971 NM_152260 "CCDS10061|CCDS66737" Q8IZ73 12477932 MGI:1918066 RGD:1306147 HGNC:24180 "ENST00000315616.12|NM_152260.3" HGNC:28437 RPUSD3 RNA pseudouridine synthase D3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 MGC29784 RNA pseudouridylate synthase domain containing 3 "RNA pseudouridylate synthase domain containing|Pseudouridine synthases" "727|1665" 2005-01-31 2018-09-12 2023-01-20 285367 ENSG00000156990 OTTHUMG00000128441 uc011atk.3 BC032135 NM_173659 CCDS87038 Q6P087 27974379 MGI:2141440 RGD:1307582 617759 HGNC:28437 "ENST00000383820.10|NM_173659.5" HGNC:25898 RPUSD4 RNA pseudouridine synthase D4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ14494 RNA pseudouridylate synthase domain containing 4 "RNA pseudouridylate synthase domain containing|Pseudouridine synthases" "727|1665" 2005-01-31 2018-09-12 2023-01-20 84881 ENSG00000165526 OTTHUMG00000165815 uc001qde.3 BC014131 NM_032795 "CCDS53721|CCDS8469" Q96CM3 28082677 MGI:1919239 RGD:1311268 617488 HGNC:25898 "ENST00000298317.9|NM_032795.3" HGNC:10446 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "REM3|RAD" "Ras-related associated with diabetes|RRAD, Ras related glycolysis inihibitor and calcium channel regulator" RGK type GTPase family 1260 1995-12-11 2016-05-16 2023-01-20 6236 ENSG00000166592 OTTHUMG00000137511 uc002eqo.3 L24564 NM_004165 CCDS10824 P55042 "7859947|24992013|25114038|26546438" MGI:1930943 RGD:69357 179503 HGNC:10446 "ENST00000299759.11|NM_004165.3" HGNC:10446 @@ -34201,21 +34204,21 @@ HGNC:20242 RRAGAP1 Ras related GTP binding A pseudogene 1 pseudogene pseudogene HGNC:55445 RRAGAP1-AS1 RRAGAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q21.2 14q21.2 Antisense RNAs 1987 2021-01-14 2021-01-14 120766148 ENSG00000258633 HGNC:19901 RRAGB Ras related GTP binding B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 Ras-related GTP binding B Ras related GTP binding proteins 1984 2003-07-07 2016-02-23 2023-01-20 10325 ENSG00000083750 OTTHUMG00000021662 uc004dup.4 X90530 NM_016656 "CCDS14371|CCDS14372" Q5VZM2 "7499430|9394008" MGI:3038613 RGD:619805 300725 HGNC:19901 "ENST00000374941.9|NM_006064.5" HGNC:19902 RRAGC Ras related GTP binding C protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "GTR2|FLJ13311" Ras-related GTP binding C Ras related GTP binding proteins 1984 2003-07-07 2016-02-23 2023-01-20 64121 ENSG00000116954 OTTHUMG00000000490 uc001ccq.4 AF323609 NM_022157 CCDS430 Q9HB90 11073942 MGI:1858751 RGD:1311760 608267 HGNC:19902 "ENST00000373001.4|NM_022157.4" -HGNC:55793 RRAGC-DT RRAGC divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 LENGA Low Expression Noncoding RNA in Gastric Adenocarcinoma Divergent transcripts 1990 2021-07-28 2023-01-12 122152324 ENSG00000228436 36477655 +HGNC:55793 RRAGC-DT RRAGC divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 LENGA Low Expression Noncoding RNA in Gastric Adenocarcinoma Divergent transcripts 1990 2021-07-28 2023-06-09 105378663 ENSG00000228436 NR_135048 36477655 HGNC:19903 RRAGD Ras related GTP binding D protein-coding gene gene with protein product Approved 6q15 06q15 "DKFZP761H171|bA11D8.2.1" Ras-related GTP binding D Ras related GTP binding proteins 1984 2003-07-07 2016-02-23 2023-01-20 58528 ENSG00000025039 OTTHUMG00000015200 uc003pnd.5 AF272036 NM_021244 CCDS5022 Q9NQL2 11073942 MGI:1098604 RGD:1310007 608268 HGNC:19903 "ENST00000369415.9|NM_021244.5" HGNC:10447 RRAS RAS related protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "R-Ras|RRAS1" Oncogene RRAS related RAS viral (r-ras) oncogene homolog RAS type GTPase family 389 2001-06-22 2017-08-02 2023-05-04 6237 ENSG00000126458 OTTHUMG00000183247 uc002pop.2 NM_006270 CCDS12774 P10301 3098437 MGI:98179 RGD:1311443 165090 471012 HGNC:10447 "ENST00000246792.4|NM_006270.5" HGNC:10447 HGNC:17271 RRAS2 RAS related 2 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 TC21 related RAS viral (r-ras) oncogene homolog 2 RAS type GTPase family 389 2001-11-30 2017-08-02 2023-01-20 22800 ENSG00000133818 OTTHUMG00000165756 uc001mlf.5 M31468 NM_012250 "CCDS53603|CCDS44544|CCDS7814" P62070 "2108320|8052619" MGI:1914172 RGD:1310793 600098 HGNC:17271 "ENST00000256196.9|NM_012250.6" HGNC:17271 HGNC:54561 RRAS2P1 RRAS2 pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 2019-10-16 2019-10-16 100133211 ENSG00000236360 NG_016982 HGNC:54562 RRAS2P2 RRAS2 pseudogene 2 pseudogene pseudogene Approved 2q36.1 02q36.1 2019-10-16 2019-10-16 100384885 ENSG00000233751 NG_016988 -HGNC:10448 RRBP1 ribosome binding protein 1 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "ES/130|hES|p180" "ribosomal receptor-binding protein 1|endoplasmic reticulum ribosome-binding protein 1" "ribosome binding protein 1 (dog 180kD homolog)|ribosome binding protein 1 homolog 180kDa (dog)" 1998-03-20 2012-12-07 2023-01-20 6238 ENSG00000125844 OTTHUMG00000031945 uc002wpw.2 AB037819 NM_001042576 "CCDS93010|CCDS13128" Q9P2E9 "8812507|19932094|28441135" MGI:1932395 RGD:1306536 601418 HGNC:10448 "ENST00000377813.6|NM_001365613.2" +HGNC:10448 RRBP1 ribosome binding protein 1 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "ES/130|hES|p180" "ribosomal receptor-binding protein 1|endoplasmic reticulum ribosome-binding protein 1" "ribosome binding protein 1 (dog 180kD homolog)|ribosome binding protein 1 homolog 180kDa (dog)" 1998-03-20 2012-12-07 2023-01-20 6238 ENSG00000125844 OTTHUMG00000031945 uc002wpw.2 AB037819 NM_001042576 "CCDS13128|CCDS93010" Q9P2E9 "8812507|19932094|28441135" MGI:1932395 RGD:1306536 601418 HGNC:10448 "ENST00000377813.6|NM_001365613.2" HGNC:55607 RRBP1P1 RRBP1 pseudogene 1 pseudogene pseudogene Approved 7p12.1 07p12.1 2021-06-11 2021-06-11 392027 ENSG00000223970 NG_006571 PGOHUM00000302624 HGNC:55608 RRBP1P2 RRBP1 pseudogene 2 pseudogene pseudogene Approved 3p24.3 03p24.3 2021-06-11 2021-06-11 100421669 ENSG00000271235 NG_025556 PGOHUM00000298969 -HGNC:10449 RREB1 ras responsive element binding protein 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 HNT hindsight homolog (drosophila) Zinc fingers C2H2-type 28 1997-08-18 2023-01-20 6239 ENSG00000124782 OTTHUMG00000014201 uc003mxb.4 U26914 NM_001003698 "CCDS54963|CCDS34335|CCDS34336" Q92766 "9367691|18394891" MGI:2443664 RGD:1310904 602209 458274 HGNC:10449 "ENST00000379938.7|NM_001003699.4" +HGNC:10449 RREB1 ras responsive element binding protein 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 HNT hindsight homolog (drosophila) Zinc fingers C2H2-type 28 1997-08-18 2023-01-20 6239 ENSG00000124782 OTTHUMG00000014201 uc003mxb.4 U26914 NM_001003698 "CCDS34335|CCDS34336|CCDS54963" Q92766 "9367691|18394891" MGI:2443664 RGD:1310904 602209 458274 HGNC:10449 "ENST00000379938.7|NM_001003699.4" HGNC:10450 RRH retinal pigment epithelium-derived rhodopsin homolog protein-coding gene gene with protein product Approved 4q25 04q25 peropsin peropsin Opsin receptors 215 1999-06-10 2023-01-20 10692 ENSG00000180245 OTTHUMG00000132045 uc003hzv.4 AF012270 NM_006583 CCDS3687 O14718 9275222 MGI:1097709 RGD:1308948 605224 HGNC:10450 "ENST00000317735.7|NM_006583.5" -HGNC:10451 RRM1 ribonucleotide reductase catalytic subunit M1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 ribonucleotide reductase M1 polypeptide 1986-01-01 2016-01-14 2023-01-20 6240 ENSG00000167325 OTTHUMG00000133361 uc001lyw.5 X59543 NM_001033 "CCDS81547|CCDS7750" P23921 7557993 MGI:98180 RGD:1592569 LRG_324|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_324.xml 180410 objectId:2630 1.17.14.1 HGNC:10451 "ENST00000300738.10|NM_001033.5" +HGNC:10451 RRM1 ribonucleotide reductase catalytic subunit M1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 ribonucleotide reductase M1 polypeptide 1986-01-01 2016-01-14 2023-01-20 6240 ENSG00000167325 OTTHUMG00000133361 uc001lyw.5 X59543 NM_001033 "CCDS7750|CCDS81547" P23921 7557993 MGI:98180 RGD:1592569 LRG_324|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_324.xml 180410 objectId:2630 1.17.14.1 HGNC:10451 "ENST00000300738.10|NM_001033.5" HGNC:40512 RRM1-AS1 RRM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 RRM1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 106478966 ENSG00000255276 OTTHUMG00000165304 uc057yfu.1 RRM1-AS1 -HGNC:10452 RRM2 ribonucleotide reductase regulatory subunit M2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 FLJ25102 C2orf48 "ribonucleotide reductase M2 polypeptide|chromosome 2 open reading frame 48" 2001-06-22 2016-01-14 2023-01-20 6241 ENSG00000171848 OTTHUMG00000090449 uc061gpx.1 NM_001034 "CCDS54334|CCDS1669" P31350 MGI:98181 RGD:1598310 180390 objectId:2631 1.17.4.1 HGNC:10452 "ENST00000304567.10|NM_001034.4" -HGNC:17296 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B protein-coding gene gene with protein product Approved 8q22.3 08q22.3 p53R2 ribonucleotide reductase M2 B (TP53 inducible) 2002-01-14 2016-01-14 2023-01-20 50484 ENSG00000048392 OTTHUMG00000164776 uc003ykn.4 AB036532 NM_001172477 "CCDS34932|CCDS55267" Q7LG56 "10716435|10980602|17486094" MGI:2155865 RGD:1306045 LRG_788|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_788.xml 604712 168101 objectId:2754 HGNC:17296 "ENST00000251810.8|NM_015713.5" HGNC:17296 +HGNC:10452 RRM2 ribonucleotide reductase regulatory subunit M2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 FLJ25102 C2orf48 "ribonucleotide reductase M2 polypeptide|chromosome 2 open reading frame 48" 2001-06-22 2016-01-14 2023-01-20 6241 ENSG00000171848 OTTHUMG00000090449 uc061gpx.1 NM_001034 "CCDS1669|CCDS54334" P31350 MGI:98181 RGD:1598310 180390 objectId:2631 1.17.4.1 HGNC:10452 "ENST00000304567.10|NM_001034.4" +HGNC:17296 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B protein-coding gene gene with protein product Approved 8q22.3 08q22.3 p53R2 ribonucleotide reductase M2 B (TP53 inducible) 2002-01-14 2016-01-14 2023-01-20 50484 ENSG00000048392 OTTHUMG00000164776 uc003ykn.4 AB036532 NM_001172477 "CCDS55267|CCDS34932" Q7LG56 "10716435|10980602|17486094" MGI:2155865 RGD:1306045 LRG_788|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_788.xml 604712 168101 objectId:2754 HGNC:17296 "ENST00000251810.8|NM_015713.5" HGNC:17296 HGNC:10454 RRM2P2 ribonucleotide reductase M2 polypeptide pseudogene 2 pseudogene pseudogene Approved 1q23.3 01q23.3 2001-06-22 2014-11-18 6244 ENSG00000236484 OTTHUMG00000034464 NG_012978 PGOHUM00000244310 HGNC:10454 HGNC:10455 RRM2P3 ribonucleotide reductase M2 polypeptide pseudogene 3 pseudogene pseudogene Approved Xp11.3 Xp11.3 2001-06-22 2020-04-20 100420159 ENSG00000214018 OTTHUMG00000021394 NG_000870 3311968 PGOHUM00000241254 HGNC:10455 HGNC:10456 RRM2P4 ribonucleotide reductase M2 polypeptide pseudogene 4 pseudogene pseudogene Approved Xq27.3 Xq27.3 1986-01-01 2016-10-05 6246 ENSG00000235598 OTTHUMG00000022588 NG_000871 3311968 PGOHUM00000241587 HGNC:10456 @@ -34230,14 +34233,14 @@ HGNC:24286 RRP7A ribosomal RNA processing 7 homolog A protein-coding gene gene w HGNC:30454 RRP7BP ribosomal RNA processing 7 homolog B, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 dJ222E13.2 RRP7B "ribosomal RNA processing 7 homolog B (S. cerevisiae)|ribosomal RNA processing 7 homolog B (S. cerevisiae), pseudogene" 2008-07-25 2015-02-27 2015-07-22 2015-07-22 91695 ENSG00000182841 OTTHUMG00000150889 NR_002184 Q9NSQ0 MGI:1922028 PGOHUM00000297549 HGNC:30454 HGNC:29030 RRP8 ribosomal RNA processing 8 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 NML "RRP8 methyltransferase homolog (S. cerevisiae)|nucleomethylin" KIAA0409 "KIAA0409|ribosomal RNA processing 8, methyltransferase, homolog (yeast)" "eNoSC complex|Ribosomal biogenesis factors|7BS DNA/RNA methyltransferases" "1477|1729|2059" 2005-10-27 2009-02-23 2017-05-25 2023-01-20 23378 ENSG00000132275 OTTHUMG00000165503 uc001med.4 AB007869 NM_015324 CCDS31411 O43159 "9455477|27149924" MGI:1914251 RGD:1308302 615818 HGNC:29030 "ENST00000254605.11|NM_015324.4" HGNC:16829 RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein protein-coding gene gene with protein product Approved 3p21.2 03p21.2 U3-55K RNU3IP2 "RNA, U3 small nucleolar interacting protein 2|ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)" "WD repeat domain containing|U3 small nucleolar ribonucleoprotein|Ribosomal biogenesis factors" "362|1485|1729" 2003-04-14 2006-10-24 2017-05-24 2023-01-20 9136 ENSG00000114767 OTTHUMG00000156930 uc003dbw.3 AJ001340 NM_004704 CCDS2837 O43818 "9418896|12032086" MGI:2384313 RGD:1307881 620013 HGNC:16829 "ENST00000232888.7|NM_004704.5" -HGNC:29100 RRP12 ribosomal RNA processing 12 homolog protein-coding gene gene with protein product Approved 10q24.1 10q24.1 KIAA0690 "KIAA0690|ribosomal RNA processing 12 homolog (S. cerevisiae)" "Armadillo like helical domain containing|Ribosomal biogenesis factors" "1492|1729" 2004-01-22 2006-11-06 2015-07-22 2023-01-20 23223 ENSG00000052749 OTTHUMG00000018855 uc057vea.1 NM_015179 "CCDS7457|CCDS60605|CCDS44467" Q5JTH9 "9734811|29875412" MGI:2147437 RGD:1591867 617723 HGNC:29100 "ENST00000370992.9|NM_015179.4" +HGNC:29100 RRP12 ribosomal RNA processing 12 homolog protein-coding gene gene with protein product Approved 10q24.1 10q24.1 KIAA0690 "KIAA0690|ribosomal RNA processing 12 homolog (S. cerevisiae)" "Armadillo like helical domain containing|Ribosomal biogenesis factors" "1492|1729" 2004-01-22 2006-11-06 2015-07-22 2023-01-20 23223 ENSG00000052749 OTTHUMG00000018855 uc057vea.1 NM_015179 "CCDS60605|CCDS44467|CCDS7457" Q5JTH9 "9734811|29875412" MGI:2147437 RGD:1591867 617723 HGNC:29100 "ENST00000370992.9|NM_015179.4" HGNC:24255 RRP15 ribosomal RNA processing 15 homolog protein-coding gene gene with protein product Approved 1q41 01q41 CGI-115 KIAA0507 "KIAA0507|ribosomal RNA processing 15 homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2007-01-24 2015-07-22 2023-01-20 51018 ENSG00000067533 OTTHUMG00000039494 uc001hlj.3 NM_016052 CCDS1520 Q9Y3B9 "15769876|28099941" MGI:1914473 RGD:1306106 611193 HGNC:24255 "ENST00000366932.4|NM_016052.4" HGNC:21374 RRP36 ribosomal RNA processing 36 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 dJ20C7.4 C6orf153 "chromosome 6 open reading frame 153|ribosomal RNA processing 36 homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2003-06-11 2010-07-06 2015-07-22 2023-01-20 88745 ENSG00000124541 OTTHUMG00000014715 uc003otp.2 BC011933 NM_033112 CCDS34453 Q96EU6 20038530 MGI:2385053 RGD:2321693 613475 HGNC:21374 "ENST00000244496.6|NM_033112.4" HGNC:17083 RRS1 ribosome biogenesis regulator 1 homolog protein-coding gene gene with protein product Approved 8q13.1 08q13.1 KIAA0112 "RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)|ribosome biogenesis regulator homolog" Ribosomal biogenesis factors 1729 2003-03-06 2019-02-28 2023-01-20 23212 ENSG00000179041 OTTHUMG00000164765 uc003xwa.3 BC001811 NM_015169 CCDS6189 Q15050 "10688653|19465021" MGI:1929721 RGD:1311403 618311 HGNC:17083 "ENST00000320270.4|NM_015169.4" HGNC:50465 RRS1-DT RRS1 divergent transcript non-coding RNA RNA, long non-coding Approved 8q13.1 08q13.1 RRS1-AS1 RRS1 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-04-30 2021-05-05 2021-05-05 2021-05-05 100505676 ENSG00000246145 OTTHUMG00000164956 NR_040434 RRS1-AS1 HGNC:50465 HGNC:10457 RS1 retinoschisin 1 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 XLRS1 RS retinoschisis (X-linked, juvenile) 1 2001-06-22 2008-07-29 2023-01-20 6247 ENSG00000102104 OTTHUMG00000021216 uc004cyo.4 AF014459 NM_000330 CCDS14187 O15537 "9326935|17804407" MGI:1336189 RGD:1642515 "X-Linked Juvenile Retinoschisis|http://www.LOVD.nl/RS1|Mutations of the X-linked Retinoschisis Gene|http://www.retina-international.org/files/sci-news/xlrsmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RS1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RS1|LRG_702|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_702.xml" 300839 118411 HGNC:10457 "ENST00000379984.4|NM_000330.4" HGNC:10457 HGNC:25634 RSAD1 radical S-adenosyl methionine domain containing 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ11164|HemW" Radical S-adenosylmethionine domain containing 2036 2004-11-08 2023-01-20 55316 ENSG00000136444 OTTHUMG00000162126 uc002iqw.2 AK002026 NM_018346 CCDS11569 Q9HA92 29282292 MGI:3039628 RGD:1592414 HGNC:25634 "ENST00000258955.7|NM_018346.3" -HGNC:30908 RSAD2 radical S-adenosyl methionine domain containing 2 protein-coding gene gene with protein product Approved 2p25.2 02p25.2 "cig5|vig1|Viperin" virus-inhibitory protein, endoplasmic reticulum–associated, interferon-inducible Radical S-adenosylmethionine domain containing 2036 2004-11-08 2023-01-20 91543 ENSG00000134321 OTTHUMG00000090352 uc002qyp.2 AF442151 NM_080657 "CCDS92710|CCDS1656" Q8WXG1 11752458 MGI:1929628 RGD:620495 607810 HGNC:30908 "ENST00000382040.4|NM_080657.5" +HGNC:30908 RSAD2 radical S-adenosyl methionine domain containing 2 protein-coding gene gene with protein product Approved 2p25.2 02p25.2 "cig5|vig1|Viperin" virus-inhibitory protein, endoplasmic reticulum–associated, interferon-inducible Radical S-adenosylmethionine domain containing 2036 2004-11-08 2023-01-20 91543 ENSG00000134321 OTTHUMG00000090352 uc002qyp.2 AF442151 NM_080657 "CCDS1656|CCDS92710" Q8WXG1 11752458 MGI:1929628 RGD:620495 607810 HGNC:30908 "ENST00000382040.4|NM_080657.5" HGNC:25642 RSBN1 round spermatid basic protein 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ11220|ROSBIN" 2004-08-11 2023-01-20 54665 ENSG00000081019 OTTHUMG00000011938 uc001edq.4 AK002082 NM_018364 CCDS862 Q5VWQ0 "14724137|28867287" MGI:2444993 RGD:1307231 615858 HGNC:25642 "ENST00000261441.9|NM_018364.5" HGNC:24765 RSBN1L round spermatid basic protein 1 like protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "FLJ42526|FLJ45813|MGC71764" round spermatid basic protein 1-like 2004-08-11 2016-03-15 2023-01-20 222194 ENSG00000187257 OTTHUMG00000155517 uc010ldt.2 AK124517 NM_198467 CCDS43607 Q6PCB5 12477932 MGI:3036237 RGD:1308748 HGNC:24765 "ENST00000334955.13|NM_198467.3" HGNC:10458 RSC1A1 regulator of solute carriers 1 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 RS1 regulatory solute carrier protein, family 1, member 1 1996-04-24 2016-09-29 2023-01-20 6248 ENSG00000215695 OTTHUMG00000067830 uc010obn.2 "BN000122|X82877" NM_006511 CCDS161 Q92681 MGI:3526447 601966 HGNC:10458 "ENST00000345034.2|NM_006511.3" @@ -34269,27 +34272,27 @@ HGNC:27362 RSPH10B radial spoke head 10 homolog B protein-coding gene gene with HGNC:34385 RSPH10B2 radial spoke head 10 homolog B2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 radial spoke head 10 homolog B2 (Chlamydomonas) Axonemal radial spoke subunits 2046 2008-07-04 2016-04-04 2023-01-20 728194 ENSG00000169402 OTTHUMG00000151856 uc003sqw.1 NM_001099697 CCDS43552 B2RC85 MGI:1922386 HGNC:34385 "ENST00000404077.6|NM_001099697.2" HGNC:13437 RSPH14 radial spoke head 14 homolog protein-coding gene gene with protein product Approved 22q11.22-q11.23 22q11.22-q11.23 RTDR1 "rhabdoid tumor deletion region gene 1|radial spoke head 14 homolog (Chlamydomonas)" "Armadillo like helical domain containing|Axonemal radial spoke subunits " "1492|2046" 2001-09-27 2014-09-05 2016-01-18 2023-01-20 27156 ENSG00000100218 OTTHUMG00000150602 AF133587 NM_014433 CCDS13803 Q9UHP6 34351079 MGI:1918486 RGD:1305601 605663 HGNC:13437 "ENST00000216036.9|NM_014433.3" HGNC:21679 RSPO1 R-spondin 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ40906|RSPONDIN" R-spondin homolog (Xenopus laevis) R-spondin family 1898 2005-08-08 2011-06-29 2023-03-15 284654 ENSG00000169218 OTTHUMG00000004321 uc031txn.2 AK098225 NM_173640 "CCDS41304|CCDS55590|CCDS55591" Q2MKA7 17041600 MGI:2183426 RGD:1565558 609595 118415 ligandId:3697 HGNC:21679 "ENST00000356545.7|NM_001242908.2" HGNC:21679 -HGNC:28583 RSPO2 R-spondin 2 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 MGC35555 R-spondin 2 homolog (Xenopus laevis) R-spondin family 1898 2005-08-08 2011-06-29 2023-01-20 340419 ENSG00000147655 OTTHUMG00000164893 uc003yms.4 AK123023 NM_178565 "CCDS6307|CCDS83314|CCDS64953" Q6UXX9 15469841 MGI:1922667 RGD:1562331 LRG_1405|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1405.xml RSPO2 610575 ligandId:3698 HGNC:28583 "ENST00000276659.10|NM_178565.5" HGNC:28583 +HGNC:28583 RSPO2 R-spondin 2 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 MGC35555 R-spondin 2 homolog (Xenopus laevis) R-spondin family 1898 2005-08-08 2011-06-29 2023-01-20 340419 ENSG00000147655 OTTHUMG00000164893 uc003yms.4 AK123023 NM_178565 "CCDS64953|CCDS83314|CCDS6307" Q6UXX9 15469841 MGI:1922667 RGD:1562331 LRG_1405|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1405.xml RSPO2 610575 ligandId:3698 HGNC:28583 "ENST00000276659.10|NM_178565.5" HGNC:28583 HGNC:20866 RSPO3 R-spondin 3 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 FLJ14440 THSD2 "thrombospondin, type I, domain containing 2|R-spondin 3 homolog (Xenopus laevis)" R-spondin family 1898 2003-04-29 2005-08-08 2011-06-29 2023-01-20 84870 ENSG00000146374 OTTHUMG00000015521 uc003qar.5 BC022367 NM_032784 CCDS5135 Q9BXY4 "10842357|15469841" MGI:1920030 RGD:1563246 RSPO3 610574 ligandId:3699 HGNC:20866 "ENST00000356698.9|NM_032784.5" -HGNC:16175 RSPO4 R-spondin 4 protein-coding gene gene with protein product Approved 20p13 20p13 dJ824F16.3 C20orf182 "chromosome 20 open reading frame 182|R-spondin family, member 4" R-spondin family 1898 2001-07-17 2005-08-08 2011-06-29 2023-01-20 343637 ENSG00000101282 OTTHUMG00000031651 uc002wej.4 AK122609 NM_001029871 "CCDS42846|CCDS42845" Q2I0M5 15469841 MGI:1924467 RGD:1563415 610573 118419 ligandId:3700 HGNC:16175 "ENST00000217260.9|NM_001029871.4" HGNC:16175 +HGNC:16175 RSPO4 R-spondin 4 protein-coding gene gene with protein product Approved 20p13 20p13 dJ824F16.3 C20orf182 "chromosome 20 open reading frame 182|R-spondin family, member 4" R-spondin family 1898 2001-07-17 2005-08-08 2011-06-29 2023-01-20 343637 ENSG00000101282 OTTHUMG00000031651 uc002wej.4 AK122609 NM_001029871 "CCDS42845|CCDS42846" Q2I0M5 15469841 MGI:1924467 RGD:1563415 610573 118419 ligandId:3700 HGNC:16175 "ENST00000217260.9|NM_001029871.4" HGNC:16175 HGNC:29420 RSPRY1 ring finger and SPRY domain containing 1 protein-coding gene gene with protein product Approved 16q13 16q13 KIAA1972 Ring finger proteins 58 2006-02-17 2023-01-20 89970 ENSG00000159579 OTTHUMG00000133462 uc002elb.4 AB075852 NM_133368 CCDS10775 Q96DX4 11853319 MGI:1914860 RGD:1308847 616585 460740 HGNC:29420 "ENST00000394420.9|NM_133368.3" HGNC:29420 -HGNC:24152 RSRC1 arginine and serine rich coiled-coil 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "MGC12197|BM-011|SRrp53|SFRS21" splicing factor, arginine/serine-rich 21 arginine/serine-rich coiled-coil 1 2005-02-25 2016-06-06 2023-01-20 51319 ENSG00000174891 OTTHUMG00000158758 uc062pjk.1 AF208853 NM_016625 "CCDS3181|CCDS63822" Q96IZ7 "15798186|19065146" MGI:1914130 RGD:1304968 613352 HGNC:24152 "ENST00000611884.5|NM_001271838.2" HGNC:24152 +HGNC:24152 RSRC1 arginine and serine rich coiled-coil 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "MGC12197|BM-011|SRrp53|SFRS21" splicing factor, arginine/serine-rich 21 arginine/serine-rich coiled-coil 1 2005-02-25 2016-06-06 2023-01-20 51319 ENSG00000174891 OTTHUMG00000158758 uc062pjk.1 AF208853 NM_016625 "CCDS63822|CCDS3181" Q96IZ7 "15798186|19065146" MGI:1914130 RGD:1304968 613352 HGNC:24152 "ENST00000611884.5|NM_001271838.2" HGNC:24152 HGNC:30559 RSRC2 arginine and serine rich coiled-coil 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ11021 arginine/serine-rich coiled-coil 2 2007-02-13 2016-06-06 2023-03-15 65117 ENSG00000111011 OTTHUMG00000167572 uc001ucr.4 AF161432 NM_023012 CCDS31920 Q7L4I2 17203224 MGI:1913489 RGD:1564882 619996 HGNC:30559 "ENST00000331738.12|NM_023012.6" HGNC:30559 HGNC:25234 RSRP1 arginine and serine rich protein 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DJ465N24.2.1 C1orf63 "chromosome 1 open reading frame 63|arginine/serine-rich protein 1" 2005-05-16 2014-02-19 2016-06-06 2023-03-15 57035 ENSG00000117616 OTTHUMG00000043611 NM_020317 CCDS260 Q9BUV0 34042961 MGI:106498 RGD:1359529 620030 HGNC:25234 "ENST00000243189.12|NM_020317.5" HGNC:10464 RSU1 Ras suppressor protein 1 protein-coding gene gene with protein product Approved 10p13 10p13 "RSP-1|FLJ31034" 1993-07-27 2023-01-20 6251 ENSG00000148484 OTTHUMG00000017740 uc001iol.4 AK055596 "NM_012425|NM_152724" "CCDS7112|CCDS31157" Q15404 8288261 MGI:103040 RGD:1591781 179555 HGNC:10464 "ENST00000345264.10|NM_012425.4" HGNC:31114 RSU1P1 Ras suppressor protein 1 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 Y214H10.6 2004-05-27 2020-04-20 100129622 ENSG00000230425 OTTHUMG00000018019 NG_008398 PGOHUM00000261964 HGNC:31114 HGNC:44391 RSU1P2 Ras suppressor protein 1 pseudogene 2 pseudogene pseudogene Approved 10q11.21 10q11.21 2012-09-20 2015-01-30 100133308 ENSG00000232554 OTTHUMG00000185442 NR_024472 PGOHUM00000238444 HGNC:44391 HGNC:44392 RSU1P3 Ras suppressor protein 1 pseudogene 3 pseudogene pseudogene Approved 10q21.1 10q21.1 2012-09-20 2012-09-20 100419964 ENSG00000213659 OTTHUMG00000018244 NG_025504 PGOHUM00000238799 HGNC:44392 -HGNC:30310 RTBDN retbindin protein-coding gene gene with protein product Approved 19p13.13 19p13.13 FLJ36353 2006-03-22 2023-01-20 83546 ENSG00000132026 OTTHUMG00000180482 uc002mvj.5 AY028917 NM_031429 "CCDS45994|CCDS12283|CCDS59356" Q9BSG5 12107411 MGI:2443686 RGD:1308534 609553 HGNC:30310 "ENST00000674343.2|NM_001270441.2" +HGNC:30310 RTBDN retbindin protein-coding gene gene with protein product Approved 19p13.13 19p13.13 FLJ36353 2006-03-22 2023-01-20 83546 ENSG00000132026 OTTHUMG00000180482 uc002mvj.5 AY028917 NM_031429 "CCDS12283|CCDS45994|CCDS59356" Q9BSG5 12107411 MGI:2443686 RGD:1308534 609553 HGNC:30310 "ENST00000674343.2|NM_001270441.2" HGNC:17981 RTCA RNA 3'-terminal phosphate cyclase protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "RPC|RTC1" RTCD1 "RTC domain containing 1|RNA terminal phosphate cyclase domain 1" MicroRNA protein coding host genes 1691 2002-01-10 2012-03-30 2012-03-30 2023-01-20 8634 ENSG00000137996 OTTHUMG00000010920 uc001dtc.4 Y11651 NM_001130841 "CCDS44178|CCDS768" O00442 9184239 MGI:1913618 RGD:1303111 611286 6.5.1.4 HGNC:17981 "ENST00000370128.9|NM_003729.4" HGNC:50573 RTCA-AS1 RTCA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p21.2 01p21.2 Antisense RNAs 1987 2014-05-21 2014-05-21 100506007 ENSG00000224616 OTTHUMG00000040490 NR_110434 RTCA-AS1 HGNC:50573 HGNC:26935 RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "HSPC117|FAAP" "focal adhesion-associated protein|tRNA-splicing ligase RtcB homolog" C22orf28 chromosome 22 open reading frame 28 tRNA splicing ligase complex 1345 2006-07-04 2013-05-22 2013-05-22 2023-01-20 51493 ENSG00000100220 OTTHUMG00000030300 BC016707 NM_014306 CCDS13905 Q9Y3I0 "11042152|21209330|21311021" MGI:106379 RGD:1303261 613901 6.5.1.3 HGNC:26935 "ENST00000216038.6|NM_014306.5" -HGNC:15888 RTEL1 regulator of telomere elongation helicase 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "bK3184A7.3|NHL|DKFZP434C013|KIAA1088|RTEL" C20orf41 chromosome 20 open reading frame 41 DNA helicases 1167 2001-06-21 2004-10-29 2004-10-29 2023-01-20 51750 ENSG00000258366 OTTHUMG00000032992 uc002yfu.3 AB029011 NM_032957 "CCDS13530|CCDS13531|CCDS63331|CCDS74751" Q9NZ71 "10655513|15210109" MGI:2139369 RGD:1306721 LRG_1149|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1149.xml 608833 330673 HGNC:15888 "ENST00000360203.11|NM_001283009.2" HGNC:15888 +HGNC:15888 RTEL1 regulator of telomere elongation helicase 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "bK3184A7.3|NHL|DKFZP434C013|KIAA1088|RTEL" C20orf41 chromosome 20 open reading frame 41 DNA helicases 1167 2001-06-21 2004-10-29 2004-10-29 2023-01-20 51750 ENSG00000258366 OTTHUMG00000032992 uc002yfu.3 AB029011 NM_032957 "CCDS63331|CCDS13530|CCDS13531|CCDS74751" Q9NZ71 "10655513|15210109" MGI:2139369 RGD:1306721 LRG_1149|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1149.xml 608833 330673 HGNC:15888 "ENST00000360203.11|NM_001283009.2" HGNC:15888 HGNC:44095 RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) other readthrough Approved 20q13.33 20q13.33 2012-06-27 2013-05-09 2013-05-09 100533107 ENSG00000026036 OTTHUMG00000170363 uc061ynz.1 NR_037882 HGNC:44095 HGNC:44213 RTEL1P1 regulator of telomere elongation helicase 1 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 2012-07-09 2012-07-09 100421429 ENSG00000251441 OTTHUMG00000161065 NG_025241 PGOHUM00000246032 HGNC:44213 HGNC:28996 RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component protein-coding gene gene with protein product Approved 15q15.1 15q15.1 KIAA0252 "KIAA0252|Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)" Paf1/RNA polymerase II complex 1029 2004-03-03 2005-07-20 2015-07-08 2023-01-20 23168 ENSG00000137815 OTTHUMG00000133744 uc001zny.3 D87440 NM_015138 CCDS32200 Q92541 "15632063|17576814" MGI:1309480 RGD:1310654 611633 HGNC:28996 "ENST00000389629.9|NM_015138.5" HGNC:15890 RTF2 replication termination factor 2 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "HSPC164|CDAO5" "C20orf43|RTFDC1" "chromosome 20 open reading frame 43|replication termination factor 2 domain containing 1" 2001-06-21 2018-01-02 2018-01-02 2023-01-20 51507 ENSG00000022277 OTTHUMG00000032801 uc002xxt.4 AF161513 NM_016407 "CCDS63316|CCDS63317|CCDS13453" Q9BY42 29290612 MGI:1913654 RGD:1311072 HGNC:15890 "ENST00000357348.10|NM_016407.5" -HGNC:10466 RTKN rhotekin protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "B5|RTKN-1" Pleckstrin homology domain containing 682 1996-11-15 2023-05-24 6242 ENSG00000114993 OTTHUMG00000129955 uc002slc.4 AF049227 NM_001015055 "CCDS42699|CCDS33226|CCDS92783|CCDS1941" Q9BST9 "9073523|10940294" MGI:107371 RGD:727874 602288 HGNC:10466 "ENST00000272430.10|NM_001015055.2" +HGNC:10466 RTKN rhotekin protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "B5|RTKN-1" Pleckstrin homology domain containing 682 1996-11-15 2023-05-24 6242 ENSG00000114993 OTTHUMG00000129955 uc002slc.4 AF049227 NM_001015055 "CCDS92783|CCDS42699|CCDS33226|CCDS1941" Q9BST9 "9073523|10940294" MGI:107371 RGD:727874 602288 HGNC:10466 "ENST00000272430.10|NM_001015055.2" HGNC:19364 RTKN2 rhotekin 2 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "Em:AC024597.2|bA531F24.1|FLJ39352" PLEKHK1 pleckstrin homology domain containing, family K member 1 Pleckstrin homology domain containing 682 2004-02-05 2007-12-14 2007-12-14 2023-01-20 219790 ENSG00000182010 OTTHUMG00000018299 uc001jlw.5 BC025765 NM_145307 "CCDS7263|CCDS73140" Q8IZC4 15504364 MGI:2158417 RGD:1304834 618450 HGNC:19364 "ENST00000373789.8|NM_145307.4" HGNC:14665 RTL1 retrotransposon Gag like 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "PEG11|MART1|Mar1|SIRH2|HUR1" "Sushi-Ichi retrotransposon homolog 2|mammalian retrotransposon-derived 1|paternally expressed 11" retrotransposon-like 1 Retrotransposon Gag like 1409 2006-02-27 2017-04-11 2023-01-20 388015 ENSG00000254656 OTTHUMG00000167573 uc010txj.1 NM_001134888 CCDS53910 A6NKG5 "16155747|15854907|12796779" MGI:2656842 RGD:11378340 LRG_1059|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1059.xml 611896 159161 HGNC:14665 "ENST00000649591.1|NM_001134888.3" HGNC:22997 RTL3 retrotransposon Gag like 3 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "FLJ38865|Mar3|Mart3|ZHC5|SIRH9" "Sushi-Ichi retrotransposon homolog 9|mammalian retrotransposon-derived 3" ZCCHC5 zinc finger CCHC-type containing 5 "Zinc fingers CCHC-type|Retrotransposon Gag like" "74|1409" 2003-08-14 2017-03-23 2017-03-23 2023-01-20 203430 ENSG00000179300 OTTHUMG00000021892 uc004edc.1 AK096184 NM_152694 CCDS14440 Q8N8U3 "15716091|16093683" MGI:2685221 RGD:1564805 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZCCHC5 HGNC:22997 "ENST00000321110.2|NM_152694.3" @@ -34301,11 +34304,11 @@ HGNC:33156 RTL8B retrotransposon Gag like 8B protein-coding gene gene with prote HGNC:2569 RTL8C retrotransposon Gag like 8C protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "Mart8|Mar8|MAR8C|SIRH5" "Sushi-Ichi retrotransposon homolog 5|mammalian retrotransposon-derived 8C" "CXX1|FAM127A" "CAAX box 1|family with sequence similarity 127, member A|family with sequence similarity 127 member A" Retrotransposon Gag like 1409 1999-01-11 2017-03-23 2017-03-23 2023-03-15 8933 ENSG00000134590 OTTHUMG00000022465 uc004eyd.4 Y13374 NM_001078171 CCDS43997 "A6ZKI3|O15255" "9403077|15716091|16093683" "MGI:1913408|MGI:3576504|MGI:1920115" 300213 HGNC:2569 "ENST00000257013.9|NM_001078171.2" HGNC:29245 RTL9 retrotransposon Gag like 9 protein-coding gene gene with protein product Approved Xq23 Xq23 "KIAA1318|Mart9|Mar9|SIRH10" "Sushi-Ichi retrotransposon homolog 10|mammalian retrotransposon-derived 9" RGAG1 retrotransposon gag domain containing 1 Retrotransposon Gag like 1409 2004-08-27 2017-03-23 2017-03-23 2023-01-20 57529 ENSG00000243978 OTTHUMG00000022196 uc004eor.2 AY121804 NM_020769 CCDS14552 Q8NET4 "10718198|15716091|16093683" MGI:2685231 RGD:6486824 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RGAG1 300965 HGNC:29245 "ENST00000520821.6|NM_001385449.1" HGNC:26112 RTL10 retrotransposon Gag like 10 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "FLJ21125|BOP" BH3-only protein C22orf29 chromosome 22 open reading frame 29 "BCL2 homology region 3 (BH3) only|Retrotransposon Gag like" "1277|1409" 2006-07-05 2017-04-20 2017-04-20 2023-01-20 79680 ENSG00000215012 OTTHUMG00000030314 uc002zqi.4 BX640998 NM_024627 CCDS13769 Q7L3V2 23055042 MGI:3833934 HGNC:26112 "ENST00000328554.9|NM_024627.6" -HGNC:10467 RTN1 reticulon 1 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 NSP neuroendocrine-specific protein MicroRNA protein coding host genes 1691 1993-08-24 2023-03-15 6252 ENSG00000139970 OTTHUMG00000028947 uc001xek.3 L10333 NM_001363702 "CCDS9741|CCDS9740|CCDS86396" Q16799 8275708 MGI:1933947 RGD:620986 600865 HGNC:10467 "ENST00000267484.10|NM_021136.3" +HGNC:10467 RTN1 reticulon 1 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 NSP neuroendocrine-specific protein MicroRNA protein coding host genes 1691 1993-08-24 2023-03-15 6252 ENSG00000139970 OTTHUMG00000028947 uc001xek.3 L10333 NM_001363702 "CCDS86396|CCDS9741|CCDS9740" Q16799 8275708 MGI:1933947 RGD:620986 600865 HGNC:10467 "ENST00000267484.10|NM_021136.3" HGNC:10468 RTN2 reticulon 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "NSP2|NSPL1" "NSP-like protein 1|Neuroendocrine-specific protein-like 1" SPG12 spastic paraplegia 12 (autosomal dominant) 1997-07-01 2023-01-20 6253 ENSG00000125744 OTTHUMG00000182123 uc002pcc.5 AF038540 NM_005619 "CCDS12666|CCDS46114|CCDS12665" O75298 "8812484|9530622|22232211" MGI:107612 RGD:1303245 603183 180211 HGNC:10468 "ENST00000245923.9|NM_005619.5" HGNC:10468 -HGNC:10469 RTN3 reticulon 3 protein-coding gene gene with protein product Approved 11q13 11q13 "NSPL2|NSPLII|ASYIP|HAP|RTN3-A1" "neuroendocrine-specific protein-like 2|NSP-like protein II|isoforme III|ASY interacting protein|homolog of ASY protein" 1998-12-11 2023-01-20 10313 ENSG00000133318 OTTHUMG00000168056 uc001nxo.4 AF059524 NM_006054 "CCDS8050|CCDS58141|CCDS8049|CCDS58142|CCDS41664|CCDS58143|CCDS8048" O95197 10331947 MGI:1339970 RGD:620988 604249 HGNC:10469 "ENST00000377819.10|NM_001265589.2" +HGNC:10469 RTN3 reticulon 3 protein-coding gene gene with protein product Approved 11q13 11q13 "NSPL2|NSPLII|ASYIP|HAP|RTN3-A1" "neuroendocrine-specific protein-like 2|NSP-like protein II|isoforme III|ASY interacting protein|homolog of ASY protein" 1998-12-11 2023-01-20 10313 ENSG00000133318 OTTHUMG00000168056 uc001nxo.4 AF059524 NM_006054 "CCDS58143|CCDS41664|CCDS8049|CCDS58142|CCDS8050|CCDS58141|CCDS8048" O95197 10331947 MGI:1339970 RGD:620988 604249 HGNC:10469 "ENST00000377819.10|NM_001265589.2" HGNC:19212 RTN3P1 reticulon 3 pseudogene 1 pseudogene pseudogene Approved 4q31.21 04q31.21 RTN3PS reticulon 3 pseudogene 2003-07-14 2011-01-14 2011-01-14 2020-04-20 152905 ENSG00000251333 OTTHUMG00000161594 NG_005175 12832288 PGOHUM00000246096 HGNC:19212 -HGNC:14085 RTN4 reticulon 4 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "NSP-CL|KIAA0886|NOGO|ASY" 2000-11-28 2023-01-20 57142 ENSG00000115310 OTTHUMG00000129337 uc002ryg.4 AF087901 NM_001321859 "CCDS42683|CCDS1851|CCDS1852|CCDS42685|CCDS42684" Q9NQC3 "10667797|10773680" MGI:1915835 RGD:620989 604475 objectId:2838 HGNC:14085 "ENST00000337526.11|NM_020532.5" +HGNC:14085 RTN4 reticulon 4 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "NSP-CL|KIAA0886|NOGO|ASY" 2000-11-28 2023-01-20 57142 ENSG00000115310 OTTHUMG00000129337 uc002ryg.4 AF087901 NM_001321859 "CCDS1852|CCDS42685|CCDS42684|CCDS42683|CCDS1851" Q9NQC3 "10667797|10773680" MGI:1915835 RGD:620989 604475 objectId:2838 HGNC:14085 "ENST00000337526.11|NM_020532.5" HGNC:18647 RTN4IP1 reticulon 4 interacting protein 1 protein-coding gene gene with protein product Approved 6q21 06q21 NIMP 2002-05-23 2023-01-20 84816 ENSG00000130347 OTTHUMG00000015304 uc003prj.4 AF336861 NM_001318746 CCDS5056 Q8WWV3 MGI:2178759 RGD:1563384 610502 471014 HGNC:18647 "ENST00000369063.8|NM_032730.5" HGNC:18647 HGNC:18601 RTN4R reticulon 4 receptor protein-coding gene gene with protein product Approved 22q11.21 22q11.21 NOGOR NOGO receptor MicroRNA protein coding host genes 1691 2002-04-30 2023-01-20 65078 ENSG00000040608 OTTHUMG00000150572 uc002zrv.4 AF283463 NM_023004 CCDS13777 Q9BZR6 11201742 MGI:2136886 RGD:620810 605566 HGNC:18601 "ENST00000043402.8|NM_023004.6" HGNC:21329 RTN4RL1 reticulon 4 receptor like 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "NGRH2|NgR3|DKFZp547J144" nogo-66 receptor homolog 2 reticulon 4 receptor-like 1 2004-01-30 2016-04-01 2023-01-20 146760 ENSG00000185924 OTTHUMG00000180184 uc002ftp.4 AF532859 NM_178568 CCDS45569 Q86UN2 MGI:2661375 RGD:727812 610461 HGNC:21329 "ENST00000331238.7|NM_178568.4" @@ -34320,25 +34323,25 @@ HGNC:54647 RTRAFP1 RTRAF pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 HGNC:54648 RTRAFP2 RTRAF pseudogene 2 pseudogene pseudogene Approved 5q15 05q15 2019-11-06 2019-11-06 100420911 ENSG00000225165 NG_024700 HGNC:18654 RTTN rotatin protein-coding gene gene with protein product Approved 18q22.2 18q22.2 DKFZP434G145 Armadillo like helical domain containing 1492 2002-07-11 2023-01-20 25914 ENSG00000176225 OTTHUMG00000178694 uc002lkp.4 AL117635 NM_173630 CCDS42443 Q86VV8 11900971 MGI:2179288 RGD:1306706 610436 319033 HGNC:18654 "ENST00000640769.2|NM_173630.4" HGNC:18654 HGNC:28991 RUBCN rubicon autophagy regulator protein-coding gene gene with protein product Approved 3q29 03q29 "rubicon|rundataxin" KIAA0226 "KIAA0226|RUN and cysteine rich domain containing beclin 1 interacting protein" "PIK3C3 complex subunits|MicroRNA protein coding host genes" "1596|1691" 2005-01-21 2015-10-16 2018-11-30 2023-01-20 9711 ENSG00000145016 OTTHUMG00000155452 D86979 NM_001145642 "CCDS43195|CCDS46987" Q92622 "9039502|19270693|20826435" MGI:1915160 RGD:1305422 LRG_1093|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1093.xml 613516 406905 HGNC:28991 "ENST00000296343.10|NM_014687.4" HGNC:28991 -HGNC:20420 RUBCNL rubicon like autophagy enhancer protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "FLJ21562|PACER" "C13orf18|KIAA0226L" "chromosome 13 open reading frame 18|KIAA0226 like|RUN and cysteine rich domain containing beclin 1 interacting protein like" PIK3C3 complex subunits 1596 2003-02-20 2016-07-26 2018-12-21 2023-01-20 80183 ENSG00000102445 OTTHUMG00000016868 uc001vbi.6 AK025215 NM_025113 "CCDS66542|CCDS31970|CCDS66544|CCDS66545|CCDS73569|CCDS66543" Q9H714 "23522960|28306502" MGI:2685590 RGD:1304929 620175 HGNC:20420 "ENST00000429979.6|NM_025113.5" +HGNC:20420 RUBCNL rubicon like autophagy enhancer protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "FLJ21562|PACER" "C13orf18|KIAA0226L" "chromosome 13 open reading frame 18|KIAA0226 like|RUN and cysteine rich domain containing beclin 1 interacting protein like" PIK3C3 complex subunits 1596 2003-02-20 2016-07-26 2018-12-21 2023-01-20 80183 ENSG00000102445 OTTHUMG00000016868 uc001vbi.6 AK025215 NM_025113 "CCDS31970|CCDS66544|CCDS66545|CCDS66543|CCDS73569|CCDS66542" Q9H714 "23522960|28306502" MGI:2685590 RGD:1304929 620175 HGNC:20420 "ENST00000429979.6|NM_025113.5" HGNC:19760 RUFY1 RUN and FYVE domain containing 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ22251|ZFYVE12|RABIP4" Zinc fingers FYVE-type 81 2002-11-26 2023-01-20 80230 ENSG00000176783 OTTHUMG00000130913 uc003mka.3 AF361055 NM_001040451 "CCDS4445|CCDS34312" Q96T51 11877430 MGI:2429762 RGD:1305099 610327 HGNC:19760 "ENST00000319449.9|NM_025158.5" HGNC:40903 RUFY1-AS1 RUFY1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Antisense RNAs 1987 2020-03-19 2020-03-19 101928445 ENSG00000244945 OTTHUMG00000163175 NR_110560 -HGNC:19761 RUFY2 RUN and FYVE domain containing 2 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "RABIP4R|FLJ10063|KIAA1537|ZFYVE13" Zinc fingers FYVE-type 81 2002-11-26 2023-01-20 55680 ENSG00000204130 OTTHUMG00000018353 uc001job.4 AF461266 NM_017987 "CCDS81470|CCDS60544|CCDS44414|CCDS41534" Q8WXA3 11877430 MGI:1917682 RGD:1592188 610328 471016 HGNC:19761 "ENST00000602465.6|NM_001330103.2" -HGNC:30285 RUFY3 RUN and FYVE domain containing 3 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "RIPx|KIAA0871|Singar1|ZFYVE30" single axon-related 1 Zinc fingers FYVE-type 81 2005-11-28 2023-01-20 22902 ENSG00000018189 OTTHUMG00000129910 uc003hfr.4 AF112221 NM_014961 "CCDS47068|CCDS34001|CCDS3547|CCDS75138" Q7L099 17439943 MGI:106484 RGD:1565242 611194 HGNC:30285 "ENST00000381006.8|NM_001037442.4" +HGNC:19761 RUFY2 RUN and FYVE domain containing 2 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "RABIP4R|FLJ10063|KIAA1537|ZFYVE13" Zinc fingers FYVE-type 81 2002-11-26 2023-01-20 55680 ENSG00000204130 OTTHUMG00000018353 uc001job.4 AF461266 NM_017987 "CCDS41534|CCDS60544|CCDS44414|CCDS81470" Q8WXA3 11877430 MGI:1917682 RGD:1592188 610328 471016 HGNC:19761 "ENST00000602465.6|NM_001330103.2" +HGNC:30285 RUFY3 RUN and FYVE domain containing 3 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "RIPx|KIAA0871|Singar1|ZFYVE30" single axon-related 1 Zinc fingers FYVE-type 81 2005-11-28 2023-01-20 22902 ENSG00000018189 OTTHUMG00000129910 uc003hfr.4 AF112221 NM_014961 "CCDS47068|CCDS3547|CCDS34001|CCDS75138" Q7L099 17439943 MGI:106484 RGD:1565242 611194 HGNC:30285 "ENST00000381006.8|NM_001037442.4" HGNC:24804 RUFY4 RUN and FYVE domain containing 4 protein-coding gene gene with protein product Approved 2q35 02q35 "FLJ46536|ZFYVE31" Zinc fingers FYVE-type 81 2006-07-14 2023-03-15 285180 ENSG00000188282 OTTHUMG00000155235 uc061shw.1 AK128393 NM_198483 Q6ZNE9 MGI:3588214 RGD:1560678 HGNC:24804 "ENST00000697321.1|NM_198483.4" HGNC:25418 RUNDC1 RUN domain containing 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 DKFZp761H0421 2004-02-27 2023-01-20 146923 ENSG00000198863 OTTHUMG00000180659 uc002ici.1 AL831813 NM_173079 CCDS11448 Q96C34 16929179 MGI:2144506 RGD:1307490 619250 HGNC:25418 "ENST00000361677.6|NM_173079.5" -HGNC:16984 RUNDC3A RUN domain containing 3A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RPIP8|RAP2IP" 2007-08-20 2023-01-20 10900 ENSG00000108309 OTTHUMG00000169259 uc002igl.5 AF055026 NM_006695 "CCDS59294|CCDS45699|CCDS45698" Q59EK9 9523700 MGI:1858752 RGD:735057 605448 HGNC:16984 "ENST00000426726.8|NM_001144825.2" +HGNC:16984 RUNDC3A RUN domain containing 3A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RPIP8|RAP2IP" 2007-08-20 2023-01-20 10900 ENSG00000108309 OTTHUMG00000169259 uc002igl.5 AF055026 NM_006695 "CCDS45698|CCDS45699|CCDS59294" Q59EK9 9523700 MGI:1858752 RGD:735057 605448 HGNC:16984 "ENST00000426726.8|NM_001144825.2" HGNC:51344 RUNDC3A-AS1 RUNDC3A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Antisense RNAs 1987 2014-10-10 2021-07-21 101926996 ENSG00000267750 OTTHUMG00000132629 "AK055254|BC051705" NR_110802 34046406 RUNDC3A-AS1 HGNC:51344 -HGNC:30286 RUNDC3B RUN domain containing 3B protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "RPIP9|RPIB9" 2007-08-20 2023-01-20 154661 ENSG00000105784 OTTHUMG00000131035 uc011khe.3 NM_138290 "CCDS47635|CCDS47636|CCDS5609" Q96NL0 12645870 MGI:2685286 RGD:1587590 617295 HGNC:30286 "ENST00000394654.4|NM_001134405.2" HGNC:30286 -HGNC:10471 RUNX1 RUNX family transcription factor 1 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 "PEBP2A2|AMLCR1" aml1 oncogene "AML1|CBFA2" "acute myeloid leukemia 1|runt-related transcription factor 1|runt related transcription factor 1" Runt-related transcription factors 1880 1991-08-20 2019-04-04 2023-01-20 861 ENSG00000159216 OTTHUMG00000086299 uc002yuk.6 X79549 NM_001001890 "CCDS42922|CCDS46646|CCDS13639" Q01196 "1427868|7835892" MGI:99852 RGD:2283 LRG_482|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_482.xml RUNX1 151385 118423 HGNC:10471 "ENST00000675419.1|NM_001754.5" HGNC:10471 +HGNC:30286 RUNDC3B RUN domain containing 3B protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "RPIP9|RPIB9" 2007-08-20 2023-01-20 154661 ENSG00000105784 OTTHUMG00000131035 uc011khe.3 NM_138290 "CCDS5609|CCDS47636|CCDS47635" Q96NL0 12645870 MGI:2685286 RGD:1587590 617295 HGNC:30286 "ENST00000394654.4|NM_001134405.2" HGNC:30286 +HGNC:10471 RUNX1 RUNX family transcription factor 1 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 "PEBP2A2|AMLCR1" aml1 oncogene "AML1|CBFA2" "acute myeloid leukemia 1|runt-related transcription factor 1|runt related transcription factor 1" Runt-related transcription factors 1880 1991-08-20 2019-04-04 2023-01-20 861 ENSG00000159216 OTTHUMG00000086299 uc002yuk.6 X79549 NM_001001890 "CCDS46646|CCDS13639|CCDS42922" Q01196 "1427868|7835892" MGI:99852 RGD:2283 LRG_482|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_482.xml RUNX1 151385 118423 HGNC:10471 "ENST00000675419.1|NM_001754.5" HGNC:10471 HGNC:56821 RUNX1-AS1 RUNX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 Antisense RNAs 1987 2023-05-04 2023-05-04 129810499 ENSG00000286153 HGNC:16623 RUNX1-IT1 RUNX1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 FLJ20856 C21orf96 "chromosome 21 open reading frame 96|RUNX1 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2003-10-01 2011-11-23 2015-02-25 2020-06-03 80215 AK024509 NR_026812 32487998 RUNX1-IT1 HGNC:16623 -HGNC:1535 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "CDR|ETO|MTG8|ZMYND2" "AML1T1|CBFA2T1" "core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related|runt related transcription factor 1; translocated to, 1 (cyclin D related)|RUNX1 translocation partner 1" Zinc fingers MYND-type 87 1993-12-16 2005-01-22 2019-05-17 2023-01-20 862 ENSG00000079102 OTTHUMG00000164066 uc022axv.2 D43638 "NM_004349|NM_175635" "CCDS47891|CCDS56544|CCDS75766|CCDS75767|CCDS6257|CCDS6256" Q06455 "1391946|9790752" MGI:104793 RGD:1305490 RUNX1T1 133435 171663 HGNC:1535 -HGNC:10472 RUNX2 RUNX family transcription factor 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "AML3|PEBP2A1|PEBP2aA1" "CCD|CBFA1|CCD1" "runt-related transcription factor 2|runt related transcription factor 2" Runt-related transcription factors 1880 1994-11-02 2019-04-04 2023-01-20 860 ENSG00000124813 OTTHUMG00000014774 uc011dvy.2 AF001450 NM_004348 "CCDS64443|CCDS4913|CCDS43468|CCDS43467" Q13950 7835892 MGI:99829 RGD:2282 600211 118429 HGNC:10472 "ENST00000647337.2|NM_001024630.4" HGNC:10472 +HGNC:1535 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "CDR|ETO|MTG8|ZMYND2" "AML1T1|CBFA2T1" "core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related|runt related transcription factor 1; translocated to, 1 (cyclin D related)|RUNX1 translocation partner 1" Zinc fingers MYND-type 87 1993-12-16 2005-01-22 2019-05-17 2023-01-20 862 ENSG00000079102 OTTHUMG00000164066 uc022axv.2 D43638 "NM_004349|NM_175635" "CCDS6257|CCDS75767|CCDS75766|CCDS56544|CCDS6256|CCDS47891" Q06455 "1391946|9790752" MGI:104793 RGD:1305490 RUNX1T1 133435 171663 HGNC:1535 +HGNC:10472 RUNX2 RUNX family transcription factor 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "AML3|PEBP2A1|PEBP2aA1" "CCD|CBFA1|CCD1" "runt-related transcription factor 2|runt related transcription factor 2" Runt-related transcription factors 1880 1994-11-02 2019-04-04 2023-01-20 860 ENSG00000124813 OTTHUMG00000014774 uc011dvy.2 AF001450 NM_004348 "CCDS43467|CCDS64443|CCDS43468|CCDS4913" Q13950 7835892 MGI:99829 RGD:2282 600211 118429 HGNC:10472 "ENST00000647337.2|NM_001024630.4" HGNC:10472 HGNC:53512 RUNX2-AS1 RUNX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 Antisense RNAs 1987 2017-05-12 2017-05-12 105375077 ENSG00000261080 OTTHUMG00000175917 XR_007059599 HGNC:53512 HGNC:10473 RUNX3 RUNX family transcription factor 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "AML2|PEBP2A3" CBFA3 "runt-related transcription factor 3|runt related transcription factor 3" "MicroRNA protein coding host genes|Runt-related transcription factors" "1691|1880" 1994-11-02 2019-04-04 2023-01-20 864 ENSG00000020633 OTTHUMG00000003316 uc001bjq.4 BC013362 NM_004350 "CCDS257|CCDS30633" Q13761 7835892 MGI:102672 RGD:620082 600210 HGNC:10473 "ENST00000308873.11|NM_004350.3" HGNC:40513 RUNX3-AS1 RUNX3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Antisense RNAs 1987 2020-03-19 2020-03-19 105376878 ENSG00000229162 OTTHUMG00000003322 NR_183339 -HGNC:17153 RUSC1 RUN and SH3 domain containing 1 protein-coding gene gene with protein product Approved 1q22 01q22 NESCA 2003-02-24 2023-01-20 23623 ENSG00000160753 OTTHUMG00000013910 uc001fkp.4 AB026894 NM_001105203 "CCDS1112|CCDS41411|CCDS41412|CCDS41410" Q9BVN2 10760598 MGI:1919546 RGD:2322139 617318 HGNC:17153 "ENST00000368352.10|NM_001105203.2" +HGNC:17153 RUSC1 RUN and SH3 domain containing 1 protein-coding gene gene with protein product Approved 1q22 01q22 NESCA 2003-02-24 2023-01-20 23623 ENSG00000160753 OTTHUMG00000013910 uc001fkp.4 AB026894 NM_001105203 "CCDS41410|CCDS1112|CCDS41412|CCDS41411" Q9BVN2 10760598 MGI:1919546 RGD:2322139 617318 HGNC:17153 "ENST00000368352.10|NM_001105203.2" HGNC:26680 RUSC1-AS1 RUSC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q22 01q22 FLJ35976 C1orf104 "chromosome 1 open reading frame 104|RUSC1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-06-03 2011-04-28 2012-08-15 2023-03-15 284618 ENSG00000225855 OTTHUMG00000013912 uc057lpu.1 AK093295 NR_145424 Q66K80 31378902 RUSC1-AS1 HGNC:26680 HGNC:23625 RUSC2 RUN and SH3 domain containing 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 KIAA0375 Iporin 2003-12-02 2023-01-20 9853 ENSG00000198853 OTTHUMG00000019861 uc003zww.4 AB002373 NM_001135999 CCDS35008 Q8N2Y8 "27612186|27238570|15375525" MGI:2140371 RGD:1592688 611053 HGNC:23625 "ENST00000361226.8|NM_014806.5" HGNC:23625 HGNC:25848 RUSF1 RUS family member 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ13868 "RUS1 homolog|root UVB sensitivity" C16orf58 chromosome 16 open reading frame 58 2006-02-17 2020-01-23 2020-01-23 2023-01-20 64755 ENSG00000140688 OTTHUMG00000132466 uc002eci.4 AK023930 NM_022744 CCDS10715 Q96GQ5 "19515790|21511809" MGI:2384572 RGD:1310127 HGNC:25848 "ENST00000327237.7|NM_022744.4" @@ -34347,31 +34350,31 @@ HGNC:10474 RUVBL1 RuvB like AAA ATPase 1 protein-coding gene gene with protein p HGNC:40514 RUVBL1-AS1 RUVBL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 RUVBL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874089 ENSG00000239608 OTTHUMG00000159660 uc062nnn.1 NR_046645 RUVBL1-AS1 HGNC:40514 HGNC:10475 RUVBL2 RuvB like AAA ATPase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "RVB2|TIP48|TIP49b|Reptin52|ECP51|TIH2|INO80J|Rvb2" "reptin|INO80 complex subunit J" "RuvB (E coli homolog)-like 2|RuvB-like 2 (E. coli)" "AAA ATPases|INO80 complex |DNA helicases|SRCAP complex|R2TP complex|Tip60/Nua4 histone acetyltransferase complex subunits|MicroRNA protein coding host genes|R2SP complex" "413|595|1167|1329|1401|1634|1691|2007" 1999-09-07 2016-03-07 2023-01-20 10856 ENSG00000183207 OTTHUMG00000183333 uc002plr.2 AF155138 NM_001321190 CCDS42588 Q9Y230 "10428817|10998447" MGI:1342299 RGD:1306509 604788 HGNC:10475 "ENST00000595090.6|NM_006666.3" HGNC:55128 RUVBL2P1 RUVBL2 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2020-07-02 2020-07-02 392538 ENSG00000226802 NG_022701 -HGNC:20993 RWDD1 RWD domain containing 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 PTD013 2003-04-30 2023-01-20 51389 ENSG00000111832 OTTHUMG00000015441 uc003pxd.5 AF092134 NM_015952 "CCDS34520|CCDS43496" Q9H446 10810093 MGI:1913771 RGD:631337 HGNC:20993 "ENST00000466444.7|NM_015952.4" +HGNC:20993 RWDD1 RWD domain containing 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 PTD013 2003-04-30 2023-01-20 51389 ENSG00000111832 OTTHUMG00000015441 uc003pxd.5 AF092134 NM_015952 "CCDS43496|CCDS34520" Q9H446 10810093 MGI:1913771 RGD:631337 HGNC:20993 "ENST00000466444.7|NM_015952.4" HGNC:31055 RWDD1P1 RWD domain containing 1 pseudogene 1 pseudogene pseudogene Approved 15q25.1 15q25.1 2004-03-31 2014-11-19 404551 NG_028864 PGOHUM00000247192 HGNC:31055 HGNC:31794 RWDD1P3 RWD domain containing 1 pseudogene 3 pseudogene pseudogene Approved 12q21.2 12q21.2 RWDD1L1 RWD domain containing 1-like 1 2004-08-02 2010-10-15 2010-10-15 2010-10-15 727789 XR_015128 PGOHUM00000239868 HGNC:31794 HGNC:21385 RWDD2A RWD domain containing 2A protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "MGC13523|dJ747H23.2" RWDD2 RWD domain containing 2 2003-06-11 2007-07-17 2007-07-17 2023-01-20 112611 ENSG00000013392 OTTHUMG00000015109 uc003pjx.5 BC010930 NM_033411 CCDS4998 Q9UIY3 MGI:1916769 RGD:1306231 HGNC:21385 "ENST00000369724.5|NM_033411.5" HGNC:1302 RWDD2B RWD domain containing 2B protein-coding gene gene with protein product Approved 21q21.3 21q21.3 GL011 C21orf6 chromosome 21 open reading frame 6 1999-05-14 2007-07-17 2007-07-17 2023-01-20 10069 ENSG00000156253 OTTHUMG00000078805 uc002yms.4 AF212232 NM_001320724 CCDS13582 P57060 10729227 MGI:1858215 RGD:1305062 617843 HGNC:1302 "ENST00000493196.2|NM_016940.3" -HGNC:21393 RWDD3 RWD domain containing 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "DKFZP566K023|RSUME" RWD-containing sumoylation enhancer 2003-06-11 2023-01-20 25950 ENSG00000122481 OTTHUMG00000010910 uc009wdu.3 BC010936 NM_015485 "CCDS44177|CCDS41357" Q9Y3V2 "17956732|29622689|29977365" MGI:1920420 RGD:620472 615875 HGNC:21393 "ENST00000370202.5|NM_015485.5" +HGNC:21393 RWDD3 RWD domain containing 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "DKFZP566K023|RSUME" RWD-containing sumoylation enhancer 2003-06-11 2023-01-20 25950 ENSG00000122481 OTTHUMG00000010910 uc009wdu.3 BC010936 NM_015485 "CCDS41357|CCDS44177" Q9Y3V2 "17956732|29622689|29977365" MGI:1920420 RGD:620472 615875 HGNC:21393 "ENST00000370202.5|NM_015485.5" HGNC:55839 RWDD3-DT RWDD3 divergent transcript non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Divergent transcripts 1990 2021-08-02 2021-08-02 101928118 ENSG00000226026 NR_125948 -HGNC:23750 RWDD4 RWD domain containing 4 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 MGC10198 "FAM28A|RWDD4A" "family with sequence similarity 28, member A|RWD domain containing 4A" 2005-10-04 2010-09-30 2010-09-30 2023-01-20 201965 ENSG00000182552 OTTHUMG00000160632 uc063bgm.1 BC017472 NM_152682 "CCDS77986|CCDS34111" Q6NW29 MGI:2681000 RGD:1564132 HGNC:23750 "ENST00000326397.10|NM_152682.4" +HGNC:23750 RWDD4 RWD domain containing 4 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 MGC10198 "FAM28A|RWDD4A" "family with sequence similarity 28, member A|RWD domain containing 4A" 2005-10-04 2010-09-30 2010-09-30 2023-01-20 201965 ENSG00000182552 OTTHUMG00000160632 uc063bgm.1 BC017472 NM_152682 "CCDS34111|CCDS77986" Q6NW29 MGI:2681000 RGD:1564132 HGNC:23750 "ENST00000326397.10|NM_152682.4" HGNC:23753 RWDD4P1 RWD domain containing 4 pseudogene 1 pseudogene pseudogene Approved 7q22.3 07q22.3 FAM28BP family with sequence similarity 28, member B pseudogene 2010-09-30 2004-07-12 2014-11-19 100419903 ENSG00000244490 OTTHUMG00000157404 NG_026613 PGOHUM00000233515 HGNC:23753 HGNC:23754 RWDD4P2 RWD domain containing 4 pseudogene 2 pseudogene pseudogene Approved 7p14.1 07p14.1 FAM28CP family with sequence similarity 28, member C pseudogene 2010-09-30 2004-07-12 2014-11-19 647009 ENSG00000175741 OTTHUMG00000155282 NG_005562 PGOHUM00000232667 HGNC:23754 -HGNC:19718 RXFP1 relaxin family peptide receptor 1 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 RXFPR1 LGR7 "leucine-rich repeat-containing G protein-coupled receptor 7|relaxin/insulin like family peptide receptor 1" Relaxin family peptide receptors 217 2003-12-04 2006-05-09 2018-02-23 2023-01-20 59350 ENSG00000171509 OTTHUMG00000149973 uc003ipz.4 AF190500 NM_021634 "CCDS43276|CCDS87277|CCDS58930|CCDS58929|CCDS75205|CCDS75204|CCDS75206" Q9HBX9 "15956688|16507880" MGI:2682211 RGD:1302973 606654 objectId:351 HGNC:19718 "ENST00000307765.10|NM_021634.4" -HGNC:17318 RXFP2 relaxin family peptide receptor 2 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "GREAT|GPR106|INSL3R|RXFPR2" LGR8 "leucine-rich repeat-containing G protein-coupled receptor 8|relaxin/insulin like family peptide receptor 2" Relaxin family peptide receptors 217 2004-02-10 2006-05-09 2018-02-23 2023-01-20 122042 ENSG00000133105 OTTHUMG00000016690 uc001utt.4 AF403384 NM_130806 "CCDS53862|CCDS9342" Q8WXD0 "12217959|12970298|15956688|16507880" MGI:2153463 RGD:1309449 606655 objectId:352 HGNC:17318 "ENST00000298386.7|NM_130806.5" HGNC:17318 +HGNC:19718 RXFP1 relaxin family peptide receptor 1 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 RXFPR1 LGR7 "leucine-rich repeat-containing G protein-coupled receptor 7|relaxin/insulin like family peptide receptor 1" Relaxin family peptide receptors 217 2003-12-04 2006-05-09 2018-02-23 2023-01-20 59350 ENSG00000171509 OTTHUMG00000149973 uc003ipz.4 AF190500 NM_021634 "CCDS75206|CCDS75204|CCDS43276|CCDS58929|CCDS75205|CCDS87277|CCDS58930" Q9HBX9 "15956688|16507880" MGI:2682211 RGD:1302973 606654 objectId:351 HGNC:19718 "ENST00000307765.10|NM_021634.4" +HGNC:17318 RXFP2 relaxin family peptide receptor 2 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "GREAT|GPR106|INSL3R|RXFPR2" LGR8 "leucine-rich repeat-containing G protein-coupled receptor 8|relaxin/insulin like family peptide receptor 2" Relaxin family peptide receptors 217 2004-02-10 2006-05-09 2018-02-23 2023-01-20 122042 ENSG00000133105 OTTHUMG00000016690 uc001utt.4 AF403384 NM_130806 "CCDS9342|CCDS53862" Q8WXD0 "12217959|12970298|15956688|16507880" MGI:2153463 RGD:1309449 606655 objectId:352 HGNC:17318 "ENST00000298386.7|NM_130806.5" HGNC:17318 HGNC:24883 RXFP3 relaxin family peptide receptor 3 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "SALPR|GPCR135|RXFPR3" RLN3R1 "relaxin 3 receptor 1|relaxin family peptide receptor 3|relaxin/insulin like family peptide receptor 3" Relaxin family peptide receptors 217 2004-11-15 2006-03-15 2018-02-23 2023-01-20 51289 ENSG00000182631 OTTHUMG00000090685 uc003jic.3 D88437 NM_016568 CCDS3900 Q9NSD7 "15956688|16507880" MGI:2441827 RGD:1311550 609445 objectId:353 HGNC:24883 "ENST00000330120.5|NM_016568.3" HGNC:14666 RXFP4 relaxin family peptide/INSL5 receptor 4 protein-coding gene gene with protein product Approved 1q22 01q22 "GPCR142|RXFPR4" "GPR100|RLN3R2" "G protein-coupled receptor 100|relaxin 3 receptor 2|relaxin family peptide receptor 4|relaxin/insulin like family peptide receptor 4" Relaxin family peptide receptors 217 2001-02-28 2006-03-15 2018-02-23 2023-01-20 339403 ENSG00000173080 OTTHUMG00000017463 uc010pgs.3 AB065617 NM_181885 CCDS1124 Q8TDU9 "15956688|16507880" MGI:2182926 RGD:2322332 609043 objectId:354 HGNC:14666 "ENST00000368318.5|NM_181885.3" -HGNC:10477 RXRA retinoid X receptor alpha protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "NR2B1|RXRalpha|RXR-alpha" nuclear receptor subfamily 2 group B member 1 retinoid X receptor, alpha "MicroRNA protein coding host genes|Retinoid X receptors" "1691|2086" 1991-11-14 2015-11-11 2023-01-20 6256 ENSG00000186350 OTTHUMG00000020887 uc004cfb.3 X52773 NM_002957 "CCDS94525|CCDS35172" P19793 2159111 MGI:98214 RGD:3610 180245 objectId:610 HGNC:10477 "ENST00000481739.2|NM_002957.6" +HGNC:10477 RXRA retinoid X receptor alpha protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "NR2B1|RXRalpha|RXR-alpha" nuclear receptor subfamily 2 group B member 1 retinoid X receptor, alpha "MicroRNA protein coding host genes|Retinoid X receptors" "1691|2086" 1991-11-14 2015-11-11 2023-01-20 6256 ENSG00000186350 OTTHUMG00000020887 uc004cfb.3 X52773 NM_002957 "CCDS35172|CCDS94525" P19793 2159111 MGI:98214 RGD:3610 180245 objectId:610 HGNC:10477 "ENST00000481739.2|NM_002957.6" HGNC:10478 RXRB retinoid X receptor beta protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "NR2B2|H-2RIIBP|RCoR-1|RXRbeta|RXR-beta" nuclear receptor subfamily 2 group B member 2 retinoid X receptor, beta Retinoid X receptors 2086 1991-11-14 2015-11-11 2023-01-20 6257 ENSG00000204231 OTTHUMG00000031298 uc003odb.5 M84820 NM_021976 "CCDS59007|CCDS4768" P28702 8257090 MGI:98215 RGD:3611 180246 objectId:611 HGNC:10478 "ENST00000374680.4|NM_021976.5" HGNC:10479 RXRG retinoid X receptor gamma protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "NR2B3|RXRgamma|RXR-gamma" nuclear receptor subfamily 2 group B member 3 retinoid X receptor, gamma Retinoid X receptors 2086 1991-11-14 2015-11-11 2023-03-15 6258 ENSG00000143171 OTTHUMG00000034626 uc001gda.4 U38480 NM_006917 "CCDS72970|CCDS1248" P48443 8034312 MGI:98216 RGD:620046 180247 471018 objectId:612 HGNC:10479 "ENST00000359842.10|NM_006917.5" HGNC:13530 RXYLT1 ribitol xylosyltransferase 1 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 HP10481 TMEM5 transmembrane protein 5 Glycosyltransferase family 8 436 2000-09-20 2017-12-14 2017-12-14 2023-03-15 10329 ENSG00000118600 OTTHUMG00000168730 uc001srq.3 AB015633 NM_014254 CCDS8966 Q9Y2B1 "27130732|23217329|27733679" MGI:2384919 RGD:1309356 605862 317635 HGNC:13530 "ENST00000261234.11|NM_014254.3" HGNC:13530 HGNC:48910 RXYLT1-AS1 RXYLT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q14.2 12q14.2 TMEM5-AS1 TMEM5 antisense RNA 1 Antisense RNAs 1987 2013-07-01 2018-02-22 2018-02-22 2018-02-22 104169670 ENSG00000255850 OTTHUMG00000168731 DB026756 NR_126167 TMEM5-AS1 HGNC:48910 HGNC:10480 RYBP RING1 and YY1 binding protein protein-coding gene gene with protein product Approved 3p13 03p13 "YEAF1|AAP1|DEDAF" "YY1 and E4TF1 associated factor 1|ring1 interactor RYBP|apoptin-associating protein 1|death effector domain-associated factor" Zinc fingers RANBP2-type 89 2000-01-28 2016-10-05 23429 ENSG00000163602 OTTHUMG00000159190 uc003dpe.4 AF179286 NM_012234 Q8N488 10369680 MGI:1929059 RGD:1307077 607535 HGNC:10480 -HGNC:10481 RYK receptor like tyrosine kinase protein-coding gene gene with protein product Approved 3q22.2 03q22.2 "D3S3195|RYK1|JTK5" JTK5A "JTK5A protein tyrosine kinase|RYK receptor-like tyrosine kinase" Receptor tyrosine kinases 321 1993-09-28 2019-02-18 2023-01-20 6259 ENSG00000163785 OTTHUMG00000159750 uc032sdh.1 S59184 NM_001005861 "CCDS75016|CCDS77820" P34925 8386829 MGI:101766 RGD:620549 600524 objectId:1849 2.7.10.1 HGNC:10481 "ENST00000623711.4|NM_002958.4" +HGNC:10481 RYK receptor like tyrosine kinase protein-coding gene gene with protein product Approved 3q22.2 03q22.2 "D3S3195|RYK1|JTK5" JTK5A "JTK5A protein tyrosine kinase|RYK receptor-like tyrosine kinase" Receptor tyrosine kinases 321 1993-09-28 2019-02-18 2023-01-20 6259 ENSG00000163785 OTTHUMG00000159750 uc032sdh.1 S59184 NM_001005861 "CCDS77820|CCDS75016" P34925 8386829 MGI:101766 RGD:620549 600524 objectId:1849 2.7.10.1 HGNC:10481 "ENST00000623711.4|NM_002958.4" HGNC:10482 RYKP1 RYK pseudogene 1 pseudogene pseudogene Approved 17p13.2 17p13.2 JTK5 "RYKL1|JTK5B|RYKP" "RYK receptor-like tyrosine kinase-like 1|JTK5B protein tyrosine kinase|RYK receptor-like tyrosine kinase pseudogene|RYK receptor-like tyrosine kinase pseudogene 1|receptor-like tyrosine kinase pseudogene 1" 1993-09-28 2010-03-05 2019-02-18 2019-02-18 6260 ENSG00000263219 OTTHUMG00000177729 AC087742 NG_005810 "8386829|10066802" PGOHUM00000305936 HGNC:10482 HGNC:10483 RYR1 ryanodine receptor 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "RYR|PPP1R137" protein phosphatase 1, regulatory subunit 137 "MHS|MHS1|CCO" "central core disease of muscle|ryanodine receptor 1 (skeletal)" "Ryanodine receptors|Protein phosphatase 1 regulatory subunits" "287|694" 1989-12-01 2016-01-25 2023-01-20 6261 ENSG00000196218 OTTHUMG00000182403 uc002oit.4 J05200 NM_000540 "CCDS33011|CCDS42563" P21817 "1862346|16621918" MGI:99659 RGD:1586637 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=RYR1|LRG_766|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_766.xml" 180901 118437 objectId:747 HGNC:10483 "ENST00000359596.8|NM_000540.3" HGNC:10483 HGNC:10484 RYR2 ryanodine receptor 2 protein-coding gene gene with protein product Approved 1q43 01q43 "ARVC2|VTSIP" ARVD2 "arrhythmogenic right ventricular dysplasia 2|ryanodine receptor 2 (cardiac)" "Ryanodine receptors|EF-hand domain containing|Armadillo like helical domain containing|MicroRNA protein coding host genes" "287|863|1492|1691" 1989-12-07 2016-01-25 2023-01-20 6262 ENSG00000198626 OTTHUMG00000039543 uc001hyl.2 X91869 NM_001035 CCDS55691 Q92736 "2380170|8406504|11159936" MGI:99685 RGD:620314 "Gene Connection for the Heart - Catecholaminergic Polymorphic Ventricular Tachy cardia database|http://www.fsm.it/cardmoc/|LRG_402|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_402.xml" 180902 118443 objectId:748 HGNC:10484 "ENST00000366574.7|NM_001035.3" HGNC:10484 -HGNC:10485 RYR3 ryanodine receptor 3 protein-coding gene gene with protein product Approved 15q13.3-q14 15q13.3-q14 "Ryanodine receptors|EF-hand domain containing" "287|863" 1993-05-12 2023-01-20 6263 ENSG00000198838 OTTHUMG00000172253 uc284npy.1 NM_001036 "CCDS58351|CCDS45210" Q15413 8276408 MGI:99684 RGD:68952 180903 471020 objectId:749 HGNC:10485 "ENST00000634891.2|NM_001036.6" HGNC:10485 +HGNC:10485 RYR3 ryanodine receptor 3 protein-coding gene gene with protein product Approved 15q13.3-q14 15q13.3-q14 "Ryanodine receptors|EF-hand domain containing" "287|863" 1993-05-12 2023-01-20 6263 ENSG00000198838 OTTHUMG00000172253 uc284npy.1 NM_001036 "CCDS45210|CCDS58351" Q15413 8276408 MGI:99684 RGD:68952 180903 471020 objectId:749 HGNC:10485 "ENST00000634891.2|NM_001036.6" HGNC:10485 HGNC:51417 RYR3-DT RYR3 divergent transcript non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 TCONS_l2_00009005 Divergent transcripts 1990 2020-07-02 2020-07-02 101928134 ENSG00000259446 OTTHUMG00000172252 "BX095733|AW450630|AI076052" NR_120326 HGNC:3165 S1PR1 sphingosine-1-phosphate receptor 1 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "edg-1|D1S3362|CD363" EDG1 endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 "Sphingosine 1-phosphate receptors|CD molecules" "206|471" 1998-05-15 2008-04-30 2008-04-30 2023-01-20 1901 ENSG00000170989 OTTHUMG00000010835 uc001dud.3 M31210 NM_001400 CCDS777 P21453 "2160972|9488656" MGI:1096355 RGD:61958 601974 objectId:275 HGNC:3165 "ENST00000305352.7|NM_001400.5" HGNC:55842 S1PR1-DT S1PR1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p21.2 01p21.2 LISPR1 Long intergenic noncoding RNA antisense to S1PR1 Divergent transcripts 1990 2021-08-02 2023-02-02 101928370 ENSG00000225938 NR_104626 29408197 @@ -34415,25 +34418,25 @@ HGNC:10504 S100P S100 calcium binding protein P protein-coding gene gene with pr HGNC:25768 S100PBP S100P binding protein protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "FLJ12903|S100PBPR" S100P binding protein 1 2005-12-01 2023-03-15 64766 ENSG00000116497 OTTHUMG00000003955 uc001bwc.5 BX647916 NM_022753 CCDS30666 Q96BU1 22330678 MGI:1921898 RGD:1564943 611889 HGNC:25768 "ENST00000373475.10|NM_022753.4" HGNC:30367 S100Z S100 calcium binding protein Z protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "Gm625|S100-zeta" S100 calcium binding protein, zeta "S100 calcium binding proteins|EF-hand domain containing" "459|863" 2004-09-22 2006-09-11 2023-01-20 170591 ENSG00000171643 OTTHUMG00000162441 uc003keq.5 AF437876 NM_130772 CCDS43333 Q8WXG8 11747429 MGI:2685471 RGD:1562902 610103 HGNC:30367 "ENST00000317593.9|NM_130772.4" HGNC:10513 SAA1 serum amyloid A1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "PIG4|TP53I4" SAA Receptor ligands 542 1988-01-18 2023-01-20 6288 ENSG00000173432 OTTHUMG00000166147 uc057zpu.1 M10906 NM_199161 CCDS7835 P0DJI8 "2595451|9305847" "MGI:98221|MGI:98222" 104750 330340 ligandId:6242 HGNC:10513 "ENST00000356524.9|NM_199161.5" -HGNC:10514 SAA2 serum amyloid A2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 1992-06-12 2023-01-20 6289 ENSG00000134339 OTTHUMG00000166484 uc001mnz.5 M26152 NM_030754 "CCDS7833|CCDS44548" P0DJI9 7686132 "MGI:98221|MGI:98222" 104751 471022 HGNC:10514 "ENST00000256733.9|NM_030754.5" +HGNC:10514 SAA2 serum amyloid A2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 1992-06-12 2023-01-20 6289 ENSG00000134339 OTTHUMG00000166484 uc001mnz.5 M26152 NM_030754 "CCDS44548|CCDS7833" P0DJI9 7686132 "MGI:98221|MGI:98222" 104751 471022 HGNC:10514 "ENST00000256733.9|NM_030754.5" HGNC:39550 SAA2-SAA4 SAA2-SAA4 readthrough other readthrough Approved 11p15.1 11p15.1 2011-02-21 2023-03-15 100528017 ENSG00000255071 OTTHUMG00000166482 uc021qel.2 NM_001199744.1 MGI:98224 HGNC:39550 HGNC:10515 SAA3P serum amyloid A3, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 SAA3 1992-06-12 2018-01-12 2018-01-12 6290 ENSG00000166787 OTTHUMG00000166433 S73444 NR_026576 "8325654|2558975" MGI:98223 PGOHUM00000257805 HGNC:10515 HGNC:10516 SAA4 serum amyloid A4, constitutive protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "C-SAA|CSAA" 1992-06-12 2023-01-20 6291 ENSG00000148965 OTTHUMG00000166483 uc001mny.4 M81349 NM_006512 CCDS7832 P35542 8325654 MGI:98224 RGD:1307371 104752 471024 HGNC:10516 "ENST00000278222.7|NM_006512.4" HGNC:25158 SAAL1 serum amyloid A like 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 FLJ41463 Armadillo like helical domain containing 1492 2005-10-28 2015-11-20 2023-01-20 113174 ENSG00000166788 OTTHUMG00000166428 uc001mnq.4 AK123457 NM_138421 CCDS31439 Q96ER3 MGI:1926185 "RGD:1594860|RGD:1587443" HGNC:25158 "ENST00000524803.6|NM_138421.3" -HGNC:30179 SAC3D1 SAC3 domain containing 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HSU79266|SHD1" 2005-03-02 2023-01-20 29901 ENSG00000168061 OTTHUMG00000165594 uc001ocm.4 U79266 NM_013299 "CCDS91506|CCDS41668|CCDS91505" A6NKF1 "8619474|9110174" MGI:1913656 RGD:1308049 618796 HGNC:30179 "ENST00000652489.1|NM_013299.4" +HGNC:30179 SAC3D1 SAC3 domain containing 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HSU79266|SHD1" 2005-03-02 2023-01-20 29901 ENSG00000168061 OTTHUMG00000165594 uc001ocm.4 U79266 NM_013299 "CCDS91506|CCDS91505|CCDS41668" A6NKF1 "8619474|9110174" MGI:1913656 RGD:1308049 618796 HGNC:30179 "ENST00000652489.1|NM_013299.4" HGNC:17059 SACM1L SAC1 like phosphatidylinositide phosphatase protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SAC1|KIAA0851" SAC1 suppressor of actin mutations 1 like (yeast) Phosphoinositide phosphatases 1079 2002-01-10 2017-06-01 2023-01-20 22908 ENSG00000211456 OTTHUMG00000156653 uc003cos.3 AB020658 NM_014016 "CCDS93257|CCDS82762|CCDS33745" Q9NTJ5 "10048485|11352561" MGI:1933169 RGD:69223 606569 HGNC:17059 "ENST00000389061.10|NM_014016.5" HGNC:10519 SACS sacsin molecular chaperone protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "ARSACS|KIAA0730|DKFZp686B15167|DNAJC29|SPAX6|PPP1R138" protein phosphatase 1, regulatory subunit 138 spastic ataxia of Charlevoix-Saguenay (sacsin) "DNAJ (HSP40) heat shock proteins|Protein phosphatase 1 regulatory subunits" "584|694" 1999-11-19 2014-01-30 2023-01-20 26278 ENSG00000151835 OTTHUMG00000016562 uc001uon.3 AF193556 NM_014363 CCDS9300 Q9NZJ4 "10610707|15057823|21726565" MGI:1354724 RGD:1307281 604490 118445 HGNC:10519 "ENST00000382292.9|NM_014363.6" HGNC:10519 HGNC:39835 SACS-AS1 SACS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 SACS antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-30 2012-08-15 2014-11-19 100506680 ENSG00000229558 OTTHUMG00000016565 uc001uor.2 NR_103450 SACS-AS1 HGNC:39835 -HGNC:30660 SAE1 SUMO1 activating enzyme subunit 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "AOS1|FLJ3091|Sua1" activator Of sumo 1 Ubiquitin like modifier activating enzymes 100 2006-10-31 2023-01-20 10055 ENSG00000142230 OTTHUMG00000183464 uc002pgc.4 BC018271 NM_005500 "CCDS54285|CCDS12696|CCDS54284" Q9UBE0 "10187858|9920803|10217437" MGI:1929264 RGD:1306098 613294 HGNC:30660 "ENST00000270225.12|NM_005500.3" +HGNC:30660 SAE1 SUMO1 activating enzyme subunit 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "AOS1|FLJ3091|Sua1" activator Of sumo 1 Ubiquitin like modifier activating enzymes 100 2006-10-31 2023-01-20 10055 ENSG00000142230 OTTHUMG00000183464 uc002pgc.4 BC018271 NM_005500 "CCDS54284|CCDS12696|CCDS54285" Q9UBE0 "10187858|9920803|10217437" MGI:1929264 RGD:1306098 613294 HGNC:30660 "ENST00000270225.12|NM_005500.3" HGNC:56699 SAE1P1 SAE1 pseudogene 1 pseudogene pseudogene Approved 11q24.1 11q24.1 2023-01-16 2023-01-16 341056 ENSG00000213184 NR_027288 PGOHUM00000291153 -HGNC:10520 SAFB scaffold attachment factor B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HET|SAFB1" Hsp27 ERE-TATA binding protein RNA binding motif containing 725 1998-01-27 2023-01-20 6294 ENSG00000160633 OTTHUMG00000180502 uc002mcf.4 L43631 NM_001201338 "CCDS12142|CCDS59339|CCDS56077|CCDS59340" Q15424 "9605873|8600450" MGI:2146974 RGD:620613 602895 HGNC:10520 "ENST00000588852.2|NM_001201338.2" +HGNC:10520 SAFB scaffold attachment factor B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HET|SAFB1" Hsp27 ERE-TATA binding protein RNA binding motif containing 725 1998-01-27 2023-01-20 6294 ENSG00000160633 OTTHUMG00000180502 uc002mcf.4 L43631 NM_001201338 "CCDS12142|CCDS56077|CCDS59340|CCDS59339" Q15424 "9605873|8600450" MGI:2146974 RGD:620613 602895 HGNC:10520 "ENST00000588852.2|NM_001201338.2" HGNC:21605 SAFB2 scaffold attachment factor B2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 KIAA0138 RNA binding motif containing 725 2003-06-27 2023-01-20 9667 ENSG00000130254 OTTHUMG00000180374 uc002mcd.4 D50928 NM_014649 CCDS32879 Q14151 12660241 MGI:2146808 RGD:1588577 608066 HGNC:21605 "ENST00000252542.9|NM_014649.3" HGNC:10521 SAG S-antigen visual arrestin protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "ARRESTIN|RP47" "arrestin 1|rod arrestin" S-antigen; retina and pineal gland (arrestin) Classical arrestins 1312 1989-09-19 2016-07-08 2023-01-20 6295 ENSG00000130561 OTTHUMG00000153213 uc002vuh.3 NM_000541 CCDS46545 P10523 2249983 MGI:98227 RGD:3619 Mutations of the Arrestin Gene|http://www.retina-international.org/files/sci-news/sagmut.htm 181031 118449 HGNC:10521 "ENST00000409110.6|NM_000541.5" HGNC:10521 HGNC:30369 SAGE1 sarcoma antigen 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "SAGE|CT14" cancer/testis antigen 14 SAGE family 1847 2004-05-24 2023-01-20 55511 ENSG00000181433 OTTHUMG00000022496 uc065bgl.1 AJ278111 NM_018666 CCDS14652 Q9NXZ1 10919659 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SAGE1 300359 HGNC:30369 "ENST00000370709.4|NM_001381902.1" HGNC:51337 SAGE2P sarcoma antigen 2, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 SAGE family 1847 2014-10-10 2014-10-10 644717 ENSG00000198022 OTTHUMG00000022487 NR_147090 A6NJ88 PGOHUM00000304870 HGNC:51337 HGNC:51338 SAGE3P sarcoma antigen 3, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 SAGE family 1847 2014-10-10 2014-10-10 100419054 ENSG00000277486 OTTHUMG00000188050 NG_026767 PGOHUM00000304869 HGNC:51338 HGNC:51339 SAGE4P sarcoma antigen 4, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 SAGE family 1847 2014-10-10 2014-10-10 442465 ENSG00000224539 OTTHUMG00000022486 PGOHUM00000305342 HGNC:51339 -HGNC:10524 SALL1 spalt like transcription factor 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "Hsal1|ZNF794" TBS "sal (Drosophila)-like 1|sal-like 1 (Drosophila)" Zinc fingers C2H2-type 28 1996-10-11 2016-05-23 2023-01-20 6299 ENSG00000103449 OTTHUMG00000133176 uc059ucs.1 X98833 NM_002968 "CCDS45483|CCDS10747" Q9NSC2 9425907 MGI:1889585 RGD:1309916 LRG_674|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_674.xml 602218 118451 HGNC:10524 "ENST00000251020.9|NM_002968.3" HGNC:10524 +HGNC:10524 SALL1 spalt like transcription factor 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "Hsal1|ZNF794" TBS "sal (Drosophila)-like 1|sal-like 1 (Drosophila)" Zinc fingers C2H2-type 28 1996-10-11 2016-05-23 2023-01-20 6299 ENSG00000103449 OTTHUMG00000133176 uc059ucs.1 X98833 NM_002968 "CCDS10747|CCDS45483" Q9NSC2 9425907 MGI:1889585 RGD:1309916 LRG_674|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_674.xml 602218 118451 HGNC:10524 "ENST00000251020.9|NM_002968.3" HGNC:10524 HGNC:10525 SALL1P1 spalt like transcription factor 1 pseudogene 1 pseudogene pseudogene Approved Xp11.23 Xp11.23 SALL1P "sal (Drosophila)-like 1 pseudogene|sal-like 1 (Drosophila) pseudogene|sal-like 1 (Drosophila) pseudogene 1" 1999-07-19 2010-03-05 2016-05-23 2016-05-23 139163 ENSG00000227391 OTTHUMG00000024152 AJ010104 NG_009881 10343095 HGNC:10525 HGNC:10526 SALL2 spalt like transcription factor 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA0360|Hsal2|ZNF795" "sal (Drosophila)-like 2|sal-like 2 (Drosophila)" Zinc fingers C2H2-type 28 1996-10-11 2016-05-23 2023-01-20 6297 ENSG00000165821 OTTHUMG00000168826 uc032atc.2 AB002358 NM_005407 "CCDS91849|CCDS32045|CCDS76656" Q9Y467 8975705 MGI:1354373 RGD:1309272 602219 402736 HGNC:10526 "ENST00000537235.2|NM_001364564.1" HGNC:10526 HGNC:10527 SALL3 spalt like transcription factor 3 protein-coding gene gene with protein product Approved 18q23 18q23 ZNF796 "sal (Drosophila)-like 3|sal-like 3 (Drosophila)" Zinc fingers C2H2-type 28 2000-01-20 2016-05-23 2023-01-20 27164 ENSG00000256463 OTTHUMG00000132896 uc002lmt.4 AJ007421 NM_171999 CCDS12013 Q9BXA9 10610715 MGI:109295 RGD:1310232 605079 HGNC:10527 "ENST00000537592.7|NM_171999.4" @@ -34449,30 +34452,30 @@ HGNC:49001 SALRNA1 senescence associated long non-coding RNA 1 non-coding RNA RN HGNC:49003 SALRNA2 senescence associated long non-coding RNA 2 non-coding RNA RNA, long non-coding Approved 15q23 15q23 "SAL-RNA2|XLOC_025931" Long non-coding RNAs with non-systematic symbols 1992 2013-07-27 2018-02-07 104548973 ENSG00000280515 OTTHUMG00000189722 NR_126482 23758631 HGNC:49003 HGNC:49002 SALRNA3 senescence associated long non-coding RNA 3 non-coding RNA RNA, long non-coding Approved 15q23 15q23 "SAL-RNA3|XLOC_025918" Long non-coding RNAs with non-systematic symbols 1992 2013-07-27 2018-02-07 104548972 ENSG00000281264 OTTHUMG00000189721 NR_126481 23758631 HGNC:49002 HGNC:17958 SAMD1 sterile alpha motif domain containing 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 Sterile alpha motif domain containing 760 2002-01-10 2016-10-05 90378 ENSG00000141858 OTTHUMG00000166628 uc060ulq.1 BC007384 NM_138352 Q6SPF0 MGI:2142433 RGD:7529921 620206 HGNC:17958 -HGNC:21574 SAMD3 sterile alpha motif domain containing 3 protein-coding gene gene with protein product Approved 6q23.1 06q23.1 "bA73O6.2|FLJ34032" Sterile alpha motif domain containing 760 2003-11-26 2023-03-15 154075 ENSG00000164483 OTTHUMG00000015556 uc003qbx.5 AK091351 NM_152552 "CCDS34539|CCDS64525" Q8N6K7 MGI:2685469 RGD:1587834 HGNC:21574 "ENST00000439090.7|NM_001017373.4" -HGNC:23023 SAMD4A sterile alpha motif domain containing 4A protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "KIAA1053|DKFZP434H0350|Smaug|SMG|SMGA|hSmaug1" smaug homolog (Drosophila) SAMD4 sterile alpha motif domain containing 4 "Sterile alpha motif domain containing|Armadillo like helical domain containing" "760|1492" 2003-09-01 2006-01-27 2006-01-27 2023-01-20 23034 ENSG00000020577 OTTHUMG00000170999 uc001xbb.4 AB028976 NM_015589 "CCDS55918|CCDS55917|CCDS32084" Q9UPU9 16221671 MGI:1921730 RGD:1310361 610747 HGNC:23023 "ENST00000554335.6|NM_015589.6" +HGNC:21574 SAMD3 sterile alpha motif domain containing 3 protein-coding gene gene with protein product Approved 6q23.1 06q23.1 "bA73O6.2|FLJ34032" Sterile alpha motif domain containing 760 2003-11-26 2023-03-15 154075 ENSG00000164483 OTTHUMG00000015556 uc003qbx.5 AK091351 NM_152552 "CCDS64525|CCDS34539" Q8N6K7 MGI:2685469 RGD:1587834 HGNC:21574 "ENST00000439090.7|NM_001017373.4" +HGNC:23023 SAMD4A sterile alpha motif domain containing 4A protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "KIAA1053|DKFZP434H0350|Smaug|SMG|SMGA|hSmaug1" smaug homolog (Drosophila) SAMD4 sterile alpha motif domain containing 4 "Sterile alpha motif domain containing|Armadillo like helical domain containing" "760|1492" 2003-09-01 2006-01-27 2006-01-27 2023-01-20 23034 ENSG00000020577 OTTHUMG00000170999 uc001xbb.4 AB028976 NM_015589 "CCDS55917|CCDS32084|CCDS55918" Q9UPU9 16221671 MGI:1921730 RGD:1310361 610747 HGNC:23023 "ENST00000554335.6|NM_015589.6" HGNC:54803 SAMD4A-AS1 SAMD4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q22.2 14q22.2 lnc-GCH1-2:3 Antisense RNAs 1987 2021-12-10 2021-12-10 729451 ENSG00000285774 XR_429363 31838253 -HGNC:25492 SAMD4B sterile alpha motif domain containing 4B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ10211|MGC99832|SMGB|hSmaug2" smaug homolog B (Drosophila) "Sterile alpha motif domain containing|Armadillo like helical domain containing" "760|1492" 2006-01-27 2023-01-20 55095 ENSG00000179134 OTTHUMG00000182967 uc002olb.4 NM_018028 "CCDS77295|CCDS33020" Q5PRF9 16221671 MGI:2448542 RGD:1305597 619231 HGNC:25492 "ENST00000610417.5|NM_001384574.2" +HGNC:25492 SAMD4B sterile alpha motif domain containing 4B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ10211|MGC99832|SMGB|hSmaug2" smaug homolog B (Drosophila) "Sterile alpha motif domain containing|Armadillo like helical domain containing" "760|1492" 2006-01-27 2023-01-20 55095 ENSG00000179134 OTTHUMG00000182967 uc002olb.4 NM_018028 "CCDS33020|CCDS77295" Q5PRF9 16221671 MGI:2448542 RGD:1305597 619231 HGNC:25492 "ENST00000610417.5|NM_001384574.2" HGNC:21180 SAMD5 sterile alpha motif domain containing 5 protein-coding gene gene with protein product Approved 6q24.3 06q24.3 dJ875H10.1 Sterile alpha motif domain containing 760 2003-11-27 2023-01-20 389432 ENSG00000203727 OTTHUMG00000015767 uc003qmc.3 AL354880 NM_001030060 CCDS34548 Q5TGI4 MGI:2444815 RGD:1311012 HGNC:21180 "ENST00000367474.2|NM_001030060.3" HGNC:25394 SAMD7 sterile alpha motif domain containing 7 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 DKFZp686E1583 Sterile alpha motif domain containing 760 2003-12-19 2023-01-20 344658 ENSG00000187033 OTTHUMG00000158730 uc003fgd.4 BX537903 NM_182610 CCDS3209 Q7Z3H4 MGI:1923203 RGD:1308931 HGNC:25394 "ENST00000335556.7|NM_001304366.2" HGNC:26320 SAMD8 sterile alpha motif domain containing 8 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "FLJ25082|SMSr" "sphingomyelin synthase related|ceramide phosphoethanolamine synthase" Sterile alpha motif domain containing 760 2003-12-19 2023-01-20 142891 ENSG00000156671 OTTHUMG00000018515 uc001jwx.2 AK057811 NM_144660 "CCDS7347|CCDS53543" Q96LT4 24259670 MGI:1914880 RGD:1306447 611575 objectId:2525 2.7.8.n3 HGNC:26320 "ENST00000542569.6|NM_001174156.2" HGNC:1348 SAMD9 sterile alpha motif domain containing 9 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "KIAA2004|FLJ20073" C7orf5 chromosome 7 open reading frame 5 Sterile alpha motif domain containing 760 2001-06-22 2004-07-16 2004-07-15 2023-01-20 54809 ENSG00000205413 OTTHUMG00000155809 uc003umg.3 AB095925 NM_017654 CCDS34680 Q5K651 27182967 RGD:1563091 610456 118460 HGNC:1348 "ENST00000379958.3|NM_017654.4" HGNC:1348 HGNC:1349 SAMD9L sterile alpha motif domain containing 9 like protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "KIAA2005|FLJ39885" C7orf6 "chromosome 7 open reading frame 6|sterile alpha motif domain containing 9-like" Sterile alpha motif domain containing 760 1999-03-10 2005-04-26 2016-03-15 2023-01-20 219285 ENSG00000177409 OTTHUMG00000155807 uc003umh.2 AB095926 NM_152703 CCDS34681 Q8IVG5 MGI:1343184 RGD:1562531 611170 461215 HGNC:1349 "ENST00000318238.9|NM_152703.5" HGNC:1349 HGNC:16129 SAMD10 sterile alpha motif domain containing 10 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 C20orf136 chromosome 20 open reading frame 136 Sterile alpha motif domain containing 760 2001-07-17 2004-07-16 2004-07-15 2023-01-20 140700 ENSG00000130590 OTTHUMG00000033011 uc002yhm.2 NM_080621 CCDS13549 Q9BYL1 MGI:2443872 RGD:1563203 HGNC:16129 "ENST00000369886.8|NM_080621.5" -HGNC:28706 SAMD11 sterile alpha motif domain containing 11 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 MGC45873 Sterile alpha motif domain containing 760 2004-07-15 2023-01-20 148398 ENSG00000187634 OTTHUMG00000040719 uc001abw.2 BC024295 NM_152486 "CCDS90833|CCDS2|CCDS90834" Q96NU1 27734943 MGI:2446220 RGD:1310271 616765 HGNC:28706 "ENST00000616016.5|NM_001385641.1" HGNC:28706 +HGNC:28706 SAMD11 sterile alpha motif domain containing 11 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 MGC45873 Sterile alpha motif domain containing 760 2004-07-15 2023-01-20 148398 ENSG00000187634 OTTHUMG00000040719 uc001abw.2 BC024295 NM_152486 "CCDS2|CCDS90833|CCDS90834" Q96NU1 27734943 MGI:2446220 RGD:1310271 616765 HGNC:28706 "ENST00000616016.5|NM_001385641.1" HGNC:28706 HGNC:44473 SAMD11P1 sterile alpha motif domain containing 11 pseudogene 1 pseudogene pseudogene Approved 17p13.3 17p13.3 2012-11-02 2012-11-02 100421331 ENSG00000262480 OTTHUMG00000177803 NG_009799 PGOHUM00000236902 HGNC:44473 -HGNC:31750 SAMD12 sterile alpha motif domain containing 12 protein-coding gene gene with protein product Approved 8q24.11-q24.12 08q24.11-q24.12 FLJ39458 Sterile alpha motif domain containing 760 2004-07-15 2023-01-20 401474 ENSG00000177570 OTTHUMG00000059817 uc010mda.2 AK096777 NM_207506 "CCDS6325|CCDS47913|CCDS94334" Q8N8I0 MGI:2444518 RGD:1561402 618073 HGNC:31750 "ENST00000314727.9|NM_207506.3" HGNC:31750 +HGNC:31750 SAMD12 sterile alpha motif domain containing 12 protein-coding gene gene with protein product Approved 8q24.11-q24.12 08q24.11-q24.12 FLJ39458 Sterile alpha motif domain containing 760 2004-07-15 2023-01-20 401474 ENSG00000177570 OTTHUMG00000059817 uc010mda.2 AK096777 NM_207506 "CCDS47913|CCDS6325|CCDS94334" Q8N8I0 MGI:2444518 RGD:1561402 618073 HGNC:31750 "ENST00000314727.9|NM_207506.3" HGNC:31750 HGNC:30937 SAMD12-AS1 SAMD12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.12 08q24.12 "C8orf26|NCRNA00252" "chromosome 8 open reading frame 26|non-protein coding RNA 252|SAMD12 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-04-27 2011-08-11 2012-08-15 2019-08-14 552860 ENSG00000281641 OTTHUMG00000189550 uc022bae.2 BE069098 NR_038210 31406141 HGNC:30937 -HGNC:24582 SAMD13 sterile alpha motif domain containing 13 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 Sterile alpha motif domain containing 760 2005-08-01 2023-01-20 148418 ENSG00000203943 OTTHUMG00000009859 uc001djr.3 NM_001010971 "CCDS30760|CCDS44166" Q5VXD3 MGI:2686498 RGD:708544 HGNC:24582 "ENST00000394834.8|NM_001134663.2" +HGNC:24582 SAMD13 sterile alpha motif domain containing 13 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 Sterile alpha motif domain containing 760 2005-08-01 2023-01-20 148418 ENSG00000203943 OTTHUMG00000009859 uc001djr.3 NM_001010971 "CCDS44166|CCDS30760" Q5VXD3 MGI:2686498 RGD:708544 HGNC:24582 "ENST00000394834.8|NM_001134663.2" HGNC:27312 SAMD14 sterile alpha motif domain containing 14 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 FLJ36890 Sterile alpha motif domain containing 760 2005-12-13 2023-01-20 201191 ENSG00000167100 OTTHUMG00000161992 uc002iqf.5 NM_174920 "CCDS58562|CCDS11560" Q8IZD0 8619474 MGI:2384945 RGD:1306138 619233 HGNC:27312 "ENST00000330175.9|NM_001257359.2" HGNC:18631 SAMD15 sterile alpha motif domain containing 15 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ35963 "FAM15A|C14orf174" "family with sequence similarity 15, member A|chromosome 14 open reading frame 174" Sterile alpha motif domain containing 760 2003-01-10 2010-10-20 2010-10-20 2023-01-20 161394 ENSG00000100583 OTTHUMG00000167428 uc001xtq.2 AK093282 NM_001010860 CCDS32126 Q9P1V8 MGI:2685109 RGD:1589368 HGNC:18631 "ENST00000216471.5|NM_001010860.4" -HGNC:15925 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "SBBI88|Mg11|HDDC1|MOP-5|AGS5" "HD domain containing 1|monocyte protein 5|Aicardi-Goutieres syndrome 5" SAM domain and HD domain 1 Sterile alpha motif domain containing 760 2001-07-31 2016-05-03 2023-01-20 25939 ENSG00000101347 OTTHUMG00000032402 uc002xgh.3 AF228421 NM_015474 "CCDS13288|CCDS86954|CCDS86953" Q9Y3Z3 "11064105|11230166|22056990" MGI:1927468 RGD:1308369 LRG_281|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_281.xml 606754 201570 3.1.5.- HGNC:15925 "ENST00000646673.2|NM_015474.4" HGNC:15925 +HGNC:15925 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "SBBI88|Mg11|HDDC1|MOP-5|AGS5" "HD domain containing 1|monocyte protein 5|Aicardi-Goutieres syndrome 5" SAM domain and HD domain 1 Sterile alpha motif domain containing 760 2001-07-31 2016-05-03 2023-01-20 25939 ENSG00000101347 OTTHUMG00000032402 uc002xgh.3 AF228421 NM_015474 "CCDS86954|CCDS86953|CCDS13288" Q9Y3Z3 "11064105|11230166|22056990" MGI:1927468 RGD:1308369 LRG_281|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_281.xml 606754 201570 3.1.5.- HGNC:15925 "ENST00000646673.2|NM_015474.4" HGNC:15925 HGNC:24276 SAMM50 SAMM50 sorting and assembly machinery component protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "CGI-51|TRG-3|YNL026W|OMP85|TOB55|SAM50" sorting and assembly machinery component 50 homolog (S. cerevisiae) Mitochondrial sorting and assembly machinery complex 1685 2005-05-31 2005-11-20 2013-08-21 2023-01-20 25813 ENSG00000100347 OTTHUMG00000150557 uc003bej.4 AK001087 NM_015380 CCDS14055 Q9Y512 15644312 MGI:1915903 RGD:1303219 612058 HGNC:24276 "ENST00000350028.5|NM_015380.5" HGNC:49778 SAMM50P1 SAMM50 sorting and assembly machinery component pseudogene 1 pseudogene pseudogene Approved 9p22.2 09p22.2 2014-02-14 2014-02-14 100271893 ENSG00000224488 OTTHUMG00000019598 NG_011613 PGOHUM00000235976 HGNC:49778 HGNC:49644 SAMMSON survival associated mitochondrial melanoma specific oncogenic non-coding RNA non-coding RNA RNA, long non-coding Approved 3p13 03p13 LINC01212 long intergenic non-protein coding RNA 1212 Long non-coding RNAs with non-systematic symbols 1992 2014-01-28 2016-03-29 2016-04-08 2016-04-08 101927152 ENSG00000240405 OTTHUMG00000159017 NR_110000 27008969 616895 SAMMSON HGNC:49644 -HGNC:10528 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 protein-coding gene gene with protein product Approved 21q11.2 21q11.2 "NASH1|SASH2|SH3D6B|HACS1|SLy2" "nuclear localization signals, SAM and SH3 domain containing 1|SAM and SH3 domain containing 2|hematopoietic adapter-containing SH3 and sterile α-motif (SAM) domains 1|Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2" "SAM and SH3 domain containing|Sterile alpha motif domain containing" "731|760" 2000-02-22 2006-12-13 2023-01-20 64092 ENSG00000155307 OTTHUMG00000074317 uc002yju.3 AF222927 NM_001256370 "CCDS42906|CCDS58786|CCDS74774|CCDS93082" Q9NSI8 "11536050|11594764" MGI:1914992 RGD:620926 607978 HGNC:10528 "ENST00000400566.6|NM_022136.5" +HGNC:10528 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 protein-coding gene gene with protein product Approved 21q11.2 21q11.2 "NASH1|SASH2|SH3D6B|HACS1|SLy2" "nuclear localization signals, SAM and SH3 domain containing 1|SAM and SH3 domain containing 2|hematopoietic adapter-containing SH3 and sterile α-motif (SAM) domains 1|Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2" "SAM and SH3 domain containing|Sterile alpha motif domain containing" "731|760" 2000-02-22 2006-12-13 2023-01-20 64092 ENSG00000155307 OTTHUMG00000074317 uc002yju.3 AF222927 NM_001256370 "CCDS58786|CCDS74774|CCDS93082|CCDS42906" Q9NSI8 "11536050|11594764" MGI:1914992 RGD:620926 607978 HGNC:10528 "ENST00000400566.6|NM_022136.5" HGNC:39599 SAMSN1-AS1 SAMSN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q11.2 21q11.2 SAMSN1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-17 2012-08-15 2012-10-12 100874190 ENSG00000223662 OTTHUMG00000074321 uc031ruw.1 NR_046512 SAMSN1-AS1 HGNC:39599 -HGNC:29387 SANBR SANT and BTB domain regulator of CSR protein-coding gene gene with protein product Approved 2p15 02p15 KIAA1841 KIAA1841 2006-03-23 2021-03-22 2021-03-22 2023-01-20 84542 ENSG00000162929 OTTHUMG00000187089 uc002saw.5 BC070104 NM_032506 "CCDS46296|CCDS1867|CCDS82456" Q6NSI8 "11347906|33831416" MGI:1918925 RGD:1305110 620213 HGNC:29387 "ENST00000402291.6|NM_001129993.3" +HGNC:29387 SANBR SANT and BTB domain regulator of CSR protein-coding gene gene with protein product Approved 2p15 02p15 KIAA1841 KIAA1841 2006-03-23 2021-03-22 2021-03-22 2023-01-20 84542 ENSG00000162929 OTTHUMG00000187089 uc002saw.5 BC070104 NM_032506 "CCDS46296|CCDS82456|CCDS1867" Q6NSI8 "11347906|33831416" MGI:1918925 RGD:1305110 620213 HGNC:29387 "ENST00000402291.6|NM_001129993.3" HGNC:10530 SAP18 Sin3A associated protein 18 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "SAP18p|2HOR0202|MGC27131" sin3A-associated protein, 18kDa "ASAP complex|SIN3 histone deacetylase complex subunits|Spliceosomal Bact complex|Spliceosomal C complex" "1236|1306|1508|1510" 1998-09-21 2016-06-01 2023-01-20 10284 ENSG00000150459 OTTHUMG00000016535 uc058vuw.1 U96915 NM_005870 CCDS9295 O00422 9150135 MGI:1277978 RGD:1310388 602949 HGNC:10530 "ENST00000382533.9|NM_005870.5" HGNC:51567 SAP18P1 SAP18 pseudogene 1 pseudogene pseudogene Approved 5q13.3 05q13.3 2015-03-10 2015-03-10 106480689 ENSG00000249777 OTTHUMG00000162385 NG_043321 PGOHUM00000301017 HGNC:51567 HGNC:51568 SAP18P2 SAP18 pseudogene 2 pseudogene pseudogene Approved 2q31.3 02q31.3 2015-03-10 2015-03-10 442060 ENSG00000223873 OTTHUMG00000154313 NG_005501 PGOHUM00000298807 HGNC:51568 @@ -34480,12 +34483,12 @@ HGNC:51569 SAP18P3 SAP18 pseudogene 3 pseudogene pseudogene Approved 3p24.3 03p2 HGNC:41908 SAP25 Sin3A associated protein 25 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ00248 Sin3A-associated protein, 25kDa 2011-05-19 2016-06-01 2023-01-20 100316904 ENSG00000205307 OTTHUMG00000187472 uc022aip.2 NM_001168682 "CCDS55137|CCDS87529" Q8TEE9 16449650 MGI:3802945 RGD:1562406 619230 HGNC:41908 "ENST00000622764.3|NM_001348680.2" HGNC:10532 SAP30 Sin3A associated protein 30 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 sin3A-associated protein, 30kDa SIN3 histone deacetylase complex subunits 1306 1999-06-07 2016-06-01 2023-01-20 8819 ENSG00000164105 OTTHUMG00000160798 uc003itd.4 AF055993 NM_003864 CCDS3817 O75446 9651585 MGI:1929129 RGD:1595501 603378 HGNC:10532 "ENST00000296504.4|NM_003864.4" HGNC:54424 SAP30-DT SAP30 divergent transcript non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 ENST00000608794 Divergent transcripts 1990 2019-07-24 2022-03-23 105377540 ENSG00000272870 NR_183968 31330194 HGNC:54424 -HGNC:30785 SAP30BP SAP30 binding protein protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HCNGP|HTRG|HTRP" 2006-01-05 2023-01-20 29115 ENSG00000161526 OTTHUMG00000179798 uc002jpe.4 AY082382 NM_013260 "CCDS11726|CCDS77115" Q9UHR5 15496587 MGI:1927479 RGD:1565537 610218 HGNC:30785 "ENST00000584667.6|NM_013260.8" +HGNC:30785 SAP30BP SAP30 binding protein protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HCNGP|HTRG|HTRP" 2006-01-05 2023-01-20 29115 ENSG00000161526 OTTHUMG00000179798 uc002jpe.4 AY082382 NM_013260 "CCDS77115|CCDS11726" Q9UHR5 15496587 MGI:1927479 RGD:1565537 610218 HGNC:30785 "ENST00000584667.6|NM_013260.8" HGNC:56751 SAP30BP-AS1 SAP30BP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 Antisense RNAs 1987 2023-02-13 2023-02-13 128667226 ENSG00000264270 -HGNC:25663 SAP30L SAP30 like protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "FLJ11526|NS4ATP2" 2006-03-24 2016-07-12 2023-01-20 79685 ENSG00000164576 OTTHUMG00000130146 uc003lvk.4 AY341060 NM_024632 "CCDS47322|CCDS47321|CCDS4326" Q9HAJ7 "14680513|16820529" MGI:1354709 RGD:1309585 610398 HGNC:25663 "ENST00000297109.11|NM_024632.6" +HGNC:25663 SAP30L SAP30 like protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "FLJ11526|NS4ATP2" 2006-03-24 2016-07-12 2023-01-20 79685 ENSG00000164576 OTTHUMG00000130146 uc003lvk.4 AY341060 NM_024632 "CCDS4326|CCDS47322|CCDS47321" Q9HAJ7 "14680513|16820529" MGI:1354709 RGD:1309585 610398 HGNC:25663 "ENST00000297109.11|NM_024632.6" HGNC:26760 SAP30L-AS1 SAP30L antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 5q33.2 05q33.2 "FLJ38109|GALNT10-AS1" GALNT10 antisense RNA 1 Antisense RNAs 1987 2013-06-04 2013-06-04 2021-06-07 386627 ENSG00000245275 OTTHUMG00000163570 NR_037897 30599235 SAP30L-AS1 HGNC:26760 HGNC:56560 SAP30P1 SAP30 pseudogene 1 pseudogene pseudogene Approved 3q25.1 03q25.1 2022-11-02 2022-11-02 677762 ENSG00000271711 NG_005531 PGOHUM00000299227 -HGNC:29813 SAP130 Sin3A associated protein 130 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 FLJ12761 sin3A-associated protein, 130kDa 2006-02-02 2016-06-01 2023-01-20 79595 ENSG00000136715 OTTHUMG00000131571 uc002tpp.3 BC017453 NM_024545 "CCDS86881|CCDS82510|CCDS54397|CCDS2153" Q9H0E3 "11230166|12724404" MGI:1919782 RGD:1311657 609697 HGNC:29813 "ENST00000643581.2|NM_001330301.2" +HGNC:29813 SAP130 Sin3A associated protein 130 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 FLJ12761 sin3A-associated protein, 130kDa 2006-02-02 2016-06-01 2023-01-20 79595 ENSG00000136715 OTTHUMG00000131571 uc002tpp.3 BC017453 NM_024545 "CCDS86881|CCDS2153|CCDS82510|CCDS54397" Q9H0E3 "11230166|12724404" MGI:1919782 RGD:1311657 609697 HGNC:29813 "ENST00000643581.2|NM_001330301.2" HGNC:13938 SAPCD1 suppressor APC domain containing 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 NG23 C6orf26 chromosome 6 open reading frame 26 2002-04-05 2011-12-13 2011-12-13 2023-01-20 401251 ENSG00000228727 OTTHUMG00000031131 uc063vnx.1 NM_001039651 CCDS34411 Q5SSQ6 MGI:2388100 RGD:1359359 HGNC:13938 "ENST00000415669.4|NM_001039651.2" HGNC:39824 SAPCD1-AS1 SAPCD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 C6orf26-AS1 "C6orf26 antisense RNA 1 (non-protein coding)|SAPCD1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2011-04-21 2011-12-13 2012-08-15 2012-10-12 104413891 ENSG00000235663 OTTHUMG00000137389 uc063vob.1 NR_126423 SAPCD1-AS1 HGNC:39824 HGNC:28055 SAPCD2 suppressor APC domain containing 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 p42.3 C9orf140 chromosome 9 open reading frame 140 2004-04-16 2012-02-08 2012-02-08 2023-01-20 89958 ENSG00000186193 OTTHUMG00000020961 uc011men.3 BC024299 NM_178448 CCDS7027 Q86UD0 26766442 MGI:1919330 RGD:1590629 612057 HGNC:28055 "ENST00000409687.5|NM_178448.4" @@ -34499,12 +34502,12 @@ HGNC:20770 SAR1AP2 secretion associated Ras related GTPase 1A pseudogene 2 pseud HGNC:32317 SAR1AP3 secretion associated Ras related GTPase 1A pseudogene 3 pseudogene pseudogene Approved 4q27 04q27 SAR1P3 "SAR1 homolog (S. cerevisiae) pseudogene 3|SAR1 homolog A (S. cerevisiae) pseudogene 3" 2005-11-08 2009-12-02 2016-01-28 2017-10-25 344988 ENSG00000225665 OTTHUMG00000161123 XM_293671 PGOHUM00000300358 HGNC:32317 HGNC:37638 SAR1AP4 secretion associated Ras related GTPase 1A pseudogene 4 pseudogene pseudogene Approved Xq13.3 Xq13.3 SAR1 homolog A (S. cerevisiae) pseudogene 4 2009-12-02 2016-01-28 2017-10-25 100132322 ENSG00000233063 OTTHUMG00000021873 NG_016180 PGOHUM00000305161 HGNC:37638 HGNC:10535 SAR1B secretion associated Ras related GTPase 1B protein-coding gene gene with protein product Approved 5q31.1 05q31.1 SARA2 "SAR1a gene homolog (S. cerevisiae) 2|SAR1a gene homolog 2 (S. cerevisiae)|SAR1 homolog B (S. cerevisiae)|secretion associated, Ras related GTPase 1B" "ARF GTPase family|COPII coat complex" "357|1960" 2000-06-28 2005-10-21 2016-01-28 2023-01-20 51128 ENSG00000152700 OTTHUMG00000129114 uc003kzr.4 AF092130 NM_016103 CCDS4177 Q9Y6B6 32358066 MGI:1913647 RGD:1305590 607690 118465 HGNC:10535 "ENST00000402673.7|NM_016103.4" HGNC:10535 -HGNC:28789 SARAF store-operated calcium entry associated regulatory factor protein-coding gene gene with protein product Approved 8p12 08p12 MGC8721 SOCE-associated regulatory factor TMEM66 transmembrane protein 66 2005-07-29 2014-06-25 2016-05-04 2023-01-20 51669 ENSG00000133872 OTTHUMG00000133397 AY359104 NM_016127 "CCDS64866|CCDS6074" Q96BY9 "11042152|22464749|23816623" MGI:1915137 RGD:1303011 614768 HGNC:28789 "ENST00000256255.11|NM_016127.6" +HGNC:28789 SARAF store-operated calcium entry associated regulatory factor protein-coding gene gene with protein product Approved 8p12 08p12 MGC8721 SOCE-associated regulatory factor TMEM66 transmembrane protein 66 2005-07-29 2014-06-25 2016-05-04 2023-01-20 51669 ENSG00000133872 OTTHUMG00000133397 AY359104 NM_016127 "CCDS6074|CCDS64866" Q96BY9 "11042152|22464749|23816623" MGI:1915137 RGD:1303011 614768 HGNC:28789 "ENST00000256255.11|NM_016127.6" HGNC:10536 SARDH sarcosine dehydrogenase protein-coding gene gene with protein product Approved 9q34.2 09q34.2 SDH DMGDHL1 1998-03-02 2023-01-20 1757 ENSG00000123453 OTTHUMG00000020879 uc004ceo.4 NM_001134707 CCDS6978 Q9UL12 10444331 MGI:2183102 RGD:621125 604455 118468 1.5.8.3 HGNC:10536 "ENST00000439388.6|NM_001134707.2" HGNC:10536 HGNC:17074 SARM1 sterile alpha and TIR motif containing 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "SARM|SAMD2|KIAA0524" "Sterile alpha motif domain containing|TIR domain containing|Armadillo like helical domain containing" "760|1296|1492" 2003-05-14 2023-01-20 23098 ENSG00000004139 OTTHUMG00000132499 uc032ezg.2 AB011096 NM_015077 CCDS11230 Q6SZW1 9628581 MGI:2136419 RGD:1310078 607732 HGNC:17074 "ENST00000585482.6|NM_015077.4" HGNC:24432 SARNP SAP domain containing ribonucleoprotein protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "THO1|Hcc-1|CIP29" "hepatocellular carcinoma 1|cytokine induced protein 29 kDa" Transcription and export complex 1 subunits 1348 2009-04-22 2023-01-20 84324 ENSG00000205323 OTTHUMG00000170441 uc001sht.4 AJ409089 NM_033082 CCDS8892 P82979 "11356193|11922608" MGI:1913368 RGD:1305692 610049 HGNC:24432 "ENST00000336133.8|NM_033082.4" -HGNC:10537 SARS1 seryl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 SERS serine tRNA ligase 1, cytoplasmic SARS seryl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 1995-06-09 2019-07-15 2019-07-15 2023-01-20 6301 ENSG00000031698 OTTHUMG00000011726 uc001dwu.3 BC009390 NM_006513 "CCDS795|CCDS81356" P49591 9431993 MGI:102809 RGD:628813 607529 6.1.1.11 HGNC:10537 "ENST00000234677.7|NM_006513.4" HGNC:10537 -HGNC:17697 SARS2 seryl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ20450|mtSerRS|SerRSmt|SARS|SERS|SYS" serine tRNA ligase 2, mitochondrial SARSM "serine-tRNA ligase, mitochondrial|seryl-tRNA synthetase 2" Aminoacyl tRNA synthetases, Class II 132 2002-10-09 2007-02-23 2023-01-20 54938 ENSG00000104835 OTTHUMG00000182691 uc002oka.3 AB029948 NM_017827 "CCDS33017|CCDS54265" Q9NP81 10764807 MGI:1919234 RGD:1309456 612804 365159 6.1.1.11 HGNC:17697 "ENST00000221431.11|NM_017827.4" HGNC:17697 +HGNC:10537 SARS1 seryl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 SERS serine tRNA ligase 1, cytoplasmic SARS seryl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 1995-06-09 2019-07-15 2019-07-15 2023-01-20 6301 ENSG00000031698 OTTHUMG00000011726 uc001dwu.3 BC009390 NM_006513 "CCDS81356|CCDS795" P49591 9431993 MGI:102809 RGD:628813 607529 6.1.1.11 HGNC:10537 "ENST00000234677.7|NM_006513.4" HGNC:10537 +HGNC:17697 SARS2 seryl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ20450|mtSerRS|SerRSmt|SARS|SERS|SYS" serine tRNA ligase 2, mitochondrial SARSM "serine-tRNA ligase, mitochondrial|seryl-tRNA synthetase 2" Aminoacyl tRNA synthetases, Class II 132 2002-10-09 2007-02-23 2023-01-20 54938 ENSG00000104835 OTTHUMG00000182691 uc002oka.3 AB029948 NM_017827 "CCDS54265|CCDS33017" Q9NP81 10764807 MGI:1919234 RGD:1309456 612804 365159 6.1.1.11 HGNC:17697 "ENST00000221431.11|NM_017827.4" HGNC:17697 HGNC:10538 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "Ara1|Snu66|SNRNP110|HAF" "small nuclear ribonucleoprotein 110kDa (U4/U6.U5)|hypoxia associated factor" "squamous cell carcinoma antigen recognised by T cells|squamous cell carcinoma antigen recognized by T cells 1|squamous cell carcinoma antigen recognized by T-cells 1|SART1, U4/U6.U5 tri-snRNP-associated protein 1" tri-snRP complex 1506 1999-01-29 2018-08-09 2023-01-20 9092 ENSG00000175467 OTTHUMG00000166771 uc001ogl.4 AB006198 NM_005146 CCDS31611 O43290 9449708 MGI:1309453 RGD:61930 605941 HGNC:10538 "ENST00000312397.10|NM_005146.5" HGNC:16860 SART3 spliceosome associated factor 3, U4/U6 recycling protein protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "KIAA0156|RP11-13G14|TIP110|p110" "HIV-1 Tat-interacting protein of 110kDa|PRP24 homolog" "squamous cell carcinoma antigen recognized by T-cells 3|squamous cell carcinoma antigen recognized by T cells 3" RNA binding motif containing 725 2001-12-17 2018-08-09 2023-01-20 9733 ENSG00000075856 OTTHUMG00000169449 uc001tmz.2 AB020880 NM_001410983 "CCDS91747|CCDS9117" Q15020 "12032085|15840095|20595234" MGI:1858230 RGD:1311646 LRG_1285|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1285.xml 611684 HGNC:16860 "ENST00000546815.6|NM_014706.4" HGNC:16860 HGNC:19182 SASH1 SAM and SH3 domain containing 1 protein-coding gene gene with protein product Approved 6q24.3-q25.1 06q24.3-q25.1 "KIAA0790|dJ323M4.1|SH3D6A" "SAM and SH3 domain containing|Sterile alpha motif domain containing" "731|760" 2003-11-27 2023-01-20 23328 ENSG00000111961 OTTHUMG00000015773 uc003qme.2 AB018333 NM_015278 CCDS5212 O94885 "9872452|12771949" MGI:1917347 RGD:1566017 607955 448465 HGNC:19182 "ENST00000367467.8|NM_015278.5" HGNC:19182 @@ -34513,11 +34516,11 @@ HGNC:25403 SASS6 SAS-6 centriolar assembly protein protein-coding gene gene with HGNC:10540 SAT1 spermidine/spermine N1-acetyltransferase 1 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 SSAT diamine N-acetyltransferase 1 SAT spermidine/spermine N1-acetyltransferase GCN5 related N-acetyltransferases 1134 1991-09-18 2006-08-24 2006-08-24 2023-01-20 6303 ENSG00000130066 OTTHUMG00000021256 uc004dau.5 M55580 NM_002970 CCDS14207 P21673 "1985966|1417826" MGI:98233 RGD:1586174 313020 412573 2.3.1.57 HGNC:10540 "ENST00000379270.5|NM_002970.4" HGNC:56726 SAT1-DT SAT1 divergent transcript non-coding RNA RNA, long non-coding Approved Xp22.11 Xp22.11 lnc-ACOT9-1 Divergent transcripts 1990 2023-01-26 2023-01-26 105373148 ENSG00000233785 NR_184056 33531590 HGNC:23160 SAT2 spermidine/spermine N1-acetyltransferase family member 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 SSAT2 "diamine N-acetyltransferase 2|thialysine N-epsilon-acetyltransferase" spermidine/spermine N1-acetyltransferase 2 GCN5 related N-acetyltransferases 1134 2003-09-26 2008-01-07 2023-05-16 112483 ENSG00000141504 OTTHUMG00000108152 uc002gic.3 AF348524 NM_133491 "CCDS11116|CCDS82055" Q96F10 "15283699|17558023" MGI:1916465 RGD:1307869 611463 2.3.1.57 HGNC:23160 "ENST00000269298.10|NM_133491.5" -HGNC:10541 SATB1 SATB homeobox 1 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA) CUT class homeoboxes and pseudogenes 527 1994-05-03 2007-02-15 2023-01-20 6304 ENSG00000182568 OTTHUMG00000129890 uc003cbj.4 NM_001131010 "CCDS56242|CCDS2631" Q01826 1505028 MGI:105084 RGD:1305561 602075 8507 HGNC:10541 "ENST00000338745.11|NM_002971.6" HGNC:10541 +HGNC:10541 SATB1 SATB homeobox 1 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA) CUT class homeoboxes and pseudogenes 527 1994-05-03 2007-02-15 2023-01-20 6304 ENSG00000182568 OTTHUMG00000129890 uc003cbj.4 NM_001131010 "CCDS2631|CCDS56242" Q01826 1505028 MGI:105084 RGD:1305561 602075 8507 HGNC:10541 "ENST00000338745.11|NM_002971.6" HGNC:10541 HGNC:50687 SATB1-AS1 SATB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 Antisense RNAs 1987 2014-06-05 2021-07-28 101927777 ENSG00000228956 OTTHUMG00000155346 DR006704 NR_125803 SATB1-AS1 HGNC:50687 HGNC:21637 SATB2 SATB homeobox 2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "KIAA1034|FLJ21474" SATB family member 2 CUT class homeoboxes and pseudogenes 527 2003-07-08 2007-02-15 2023-01-20 23314 ENSG00000119042 OTTHUMG00000132767 uc002uuz.3 AB028957 NM_015265 CCDS2327 Q9UPW6 MGI:2679336 RGD:1562369 608148 8508 138514 HGNC:21637 "ENST00000417098.6|NM_001172509.2" HGNC:21637 HGNC:26490 SATB2-AS1 SATB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 SATB2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2017-02-15 150538 ENSG00000225953 OTTHUMG00000154470 uc061rbe.1 NR_026830 28190168 SATB2-AS1 HGNC:26490 -HGNC:27992 SATL1 spermidine/spermine N1-acetyl transferase like 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 GCN5 related N-acetyltransferases 1134 2004-06-08 2017-05-12 2023-01-20 340562 ENSG00000184788 OTTHUMG00000021931 uc065adu.1 BC043215 NM_001012980 "CCDS94637|CCDS35343|CCDS94638" Q86VE3 12477932 MGI:1921059 RGD:1565932 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SATL1 HGNC:27992 "ENST00000644105.2|NM_001367857.2" +HGNC:27992 SATL1 spermidine/spermine N1-acetyl transferase like 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 GCN5 related N-acetyltransferases 1134 2004-06-08 2017-05-12 2023-01-20 340562 ENSG00000184788 OTTHUMG00000021931 uc065adu.1 BC043215 NM_001012980 "CCDS35343|CCDS94638|CCDS94637" Q86VE3 12477932 MGI:1921059 RGD:1565932 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SATL1 HGNC:27992 "ENST00000644105.2|NM_001367857.2" HGNC:17795 SAV1 salvador family WW domain containing protein 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "WW45|WWP4|salvador" WW domain-containing adaptor 45 salvador homolog 1 (Drosophila) 2003-01-15 2014-04-14 2023-01-20 60485 ENSG00000151748 OTTHUMG00000140293 uc001wyh.3 AK023071 NM_021818 CCDS9701 Q9H4B6 "12202036|11027580" MGI:1927144 RGD:1307253 607203 HGNC:17795 "ENST00000324679.5|NM_021818.4" HGNC:28566 SAXO1 stabilizer of axonemal microtubules 1 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 MGC35182 "C9orf138|FAM154A" "chromosome 9 open reading frame 138|family with sequence similarity 154, member A" 2004-04-16 2015-03-03 2015-03-03 2023-01-20 158297 ENSG00000155875 OTTHUMG00000019609 BC033489 NM_153707 "CCDS75820|CCDS75819|CCDS6487" Q8IYX7 25673876 MGI:1923061 RGD:1583685 616292 HGNC:28566 "ENST00000380534.9|NM_153707.4" HGNC:33727 SAXO2 stabilizer of axonemal microtubules 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 DKFZp666G057 FAM154B family with sequence similarity 154, member B 2008-02-21 2015-03-03 2015-03-03 2023-01-20 283726 ENSG00000188659 AL833762 NM_001008226 "CCDS32310|CCDS92049" Q658L1 25673876 MGI:1914618 RGD:1562653 HGNC:33727 "ENST00000682753.1|NM_001348699.2" @@ -34527,17 +34530,17 @@ HGNC:24745 SAXO5 stabilizer of axonemal microtubules 5 protein-coding gene gene HGNC:21025 SAYSD1 SAYSVFN motif domain containing 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 FLJ11101 C6orf64 chromosome 6 open reading frame 64 2003-05-06 2011-12-13 2011-12-13 2023-03-15 55776 ENSG00000112167 OTTHUMG00000014641 uc003ook.2 BC022007 NM_018322 CCDS4840 Q9NPB0 MGI:1914759 RGD:1310877 HGNC:21025 "ENST00000229903.5|NM_018322.3" HGNC:19440 SBDS SBDS ribosome maturation factor protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "CGI-97|FLJ10917|SDS|SWDS|SDO1" "Shwachman-Bodian-Diamond syndrome|SBDS, ribosome assembly guanine nucleotide exchange factor" Ribosomal biogenesis factors 1729 2003-07-02 2019-01-22 2023-01-20 51119 ENSG00000126524 OTTHUMG00000023165 uc003tvm.2 AF151855 NM_016038 CCDS5537 Q9Y3A5 "12496757|21803848" MGI:1913961 RGD:1311043 "SBDSbase: Mutation registry for Shwachman-Diamond syndrome|http://structure.bmc.lu.se/idbase/SBDSbase/|LRG_104|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_104.xml" SBDS 607444 118476 HGNC:19440 "ENST00000246868.7|NM_016038.4" HGNC:19440 HGNC:21646 SBDSP1 SBDS pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 SBDSP "Shwachman-Bodian-Diamond syndrome pseudogene|SBDS, ribosome assembly guanine nucleotide exchange factor pseudogene 1" 2003-07-02 2010-03-05 2019-01-22 2019-01-22 155370 ENSG00000225648 OTTHUMG00000157063 BC010183 NR_001588 "12496757|27890432" PGOHUM00000233413 HGNC:21646 -HGNC:10542 SBF1 SET binding factor 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "MTMR5|DENND7A" "myotubularin related 5|DENN/MADD domain containing 7A" "DENN domain containing|Pleckstrin homology domain containing|Myotubularins" "504|682|903" 1998-07-28 2023-01-20 6305 ENSG00000100241 OTTHUMG00000150204 uc003blh.5 U93181 NM_001365819 "CCDS93187|CCDS93186|CCDS93185|CCDS14091" O95248 "9537414|9736772" MGI:1925230 RGD:1307090 603560 364562 HGNC:10542 "ENST00000380817.8|NM_002972.4" HGNC:10542 +HGNC:10542 SBF1 SET binding factor 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "MTMR5|DENND7A" "myotubularin related 5|DENN/MADD domain containing 7A" "DENN domain containing|Pleckstrin homology domain containing|Myotubularins" "504|682|903" 1998-07-28 2023-01-20 6305 ENSG00000100241 OTTHUMG00000150204 uc003blh.5 U93181 NM_001365819 "CCDS14091|CCDS93186|CCDS93185|CCDS93187" O95248 "9537414|9736772" MGI:1925230 RGD:1307090 603560 364562 HGNC:10542 "ENST00000380817.8|NM_002972.4" HGNC:10542 HGNC:31098 SBF1P1 SET binding factor 1 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 2005-10-06 2018-02-07 100133234 ENSG00000248522 OTTHUMG00000160453 NR_027765 PGOHUM00000303211 HGNC:31098 HGNC:54552 SBF1P2 SBF1 pseudogene 2 pseudogene pseudogene Approved 1p36.22 01p36.22 2019-10-11 2019-10-11 390997 ENSG00000224904 NG_012281 HGNC:54552 -HGNC:2135 SBF2 SET binding factor 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA1766|MTMR13|DENND7B" myotubularin related 13 CMT4B2 "Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)|DENN/MADD domain containing 7B" "DENN domain containing|Pleckstrin homology domain containing|Myotubularins" "504|682|903" 1999-10-29 2004-11-12 2004-11-12 2023-01-20 81846 ENSG00000133812 OTTHUMG00000165890 uc001mib.2 AB051553 NM_030962 "CCDS31427|CCDS91440|CCDS91439" Q86WG5 10644431 MGI:1921831 RGD:1588657 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_267|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_267.xml" 607697 118482 HGNC:2135 "ENST00000256190.13|NM_030962.4" HGNC:2135 +HGNC:2135 SBF2 SET binding factor 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA1766|MTMR13|DENND7B" myotubularin related 13 CMT4B2 "Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)|DENN/MADD domain containing 7B" "DENN domain containing|Pleckstrin homology domain containing|Myotubularins" "504|682|903" 1999-10-29 2004-11-12 2004-11-12 2023-01-20 81846 ENSG00000133812 OTTHUMG00000165890 uc001mib.2 AB051553 NM_030962 "CCDS91440|CCDS31427|CCDS91439" Q86WG5 10644431 MGI:1921831 RGD:1588657 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_267|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_267.xml" 607697 118482 HGNC:2135 "ENST00000256190.13|NM_030962.4" HGNC:2135 HGNC:27438 SBF2-AS1 SBF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 SBF2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2018-08-03 283104 ENSG00000246273 OTTHUMG00000165875 uc001mhz.2 NR_036485 "27154193|28983240" SBF2-AS1 HGNC:27438 HGNC:17699 SBK1 SH3 domain binding kinase 1 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 Sbk SH3-binding domain kinase 1 2005-01-21 2013-09-27 2023-01-20 388228 ENSG00000188322 OTTHUMG00000166066 uc002dpd.3 NM_001024401 CCDS32416 Q52WX2 MGI:2135937 RGD:628713 620212 objectId:2193 HGNC:17699 "ENST00000341901.5|NM_001024401.3" -HGNC:34416 SBK2 SH3 domain binding kinase family member 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SGK069 "SH3-binding domain kinase family, member 2|SH3 domain binding kinase family, member 2" 2009-01-09 2015-11-18 2023-01-20 646643 ENSG00000187550 OTTHUMG00000155830 uc061dbl.1 NM_001101401 CCDS42631 P0C263 MGI:2685925 RGD:1563279 objectId:2194 HGNC:34416 "ENST00000413299.6|NM_001370096.2" +HGNC:34416 SBK2 SH3 domain binding kinase family member 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SGK069 "SH3-binding domain kinase family, member 2|SH3 domain binding kinase family, member 2" 2009-01-09 2015-11-18 2023-01-20 646643 ENSG00000187550 OTTHUMG00000155830 uc061dbl.1 NM_001101401 CCDS42631 P0C263 MGI:2685925 RGD:1563279 620414 objectId:2194 HGNC:34416 "ENST00000413299.6|NM_001370096.2" HGNC:44121 SBK3 SH3 domain binding kinase family member 3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SgK110 SH3 domain binding kinase family, member 3 2013-09-27 2015-11-18 2023-01-20 100130827 ENSG00000231274 OTTHUMG00000155831 NM_001199824 CCDS74457 P0C264 MGI:2685924 RGD:1583965 objectId:2290 HGNC:44121 "ENST00000612221.1|NM_001199824.2" HGNC:22973 SBNO1 strawberry notch homolog 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "MOP3|FLJ10701|FLJ10833|Sno" sno, strawberry notch homolog 1 (Drosophila) MicroRNA protein coding host genes 1691 2003-08-11 2016-07-08 2023-01-20 55206 ENSG00000139697 OTTHUMG00000183988 uc010tao.3 AK001563 NM_018183 "CCDS9246|CCDS53844" A3KN83 MGI:2384298 RGD:1310005 614274 471026 HGNC:22973 "ENST00000602398.3|NM_001167856.3" HGNC:54355 SBNO1-AS1 SBNO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Antisense RNAs 1987 2019-05-15 2019-05-15 112268105 ENSG00000256092 NR_157805 HGNC:54355 -HGNC:29158 SBNO2 strawberry notch homolog 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLJ00173|Stno|Sno" KIAA0963 "KIAA0963|strawberry notch homolog 2 (Drosophila)" 2004-02-10 2006-10-06 2016-07-08 2023-01-20 22904 ENSG00000064932 OTTHUMG00000181875 uc002lrk.5 AK074102 NM_014963 "CCDS45894|CCDS45895" Q9Y2G9 10231032 MGI:2448490 RGD:1307194 615729 HGNC:29158 "ENST00000361757.8|NM_014963.3" +HGNC:29158 SBNO2 strawberry notch homolog 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLJ00173|Stno|Sno" KIAA0963 "KIAA0963|strawberry notch homolog 2 (Drosophila)" 2004-02-10 2006-10-06 2016-07-08 2023-01-20 22904 ENSG00000064932 OTTHUMG00000181875 uc002lrk.5 AK074102 NM_014963 "CCDS45895|CCDS45894" Q9Y2G9 10231032 MGI:2448490 RGD:1307194 615729 HGNC:29158 "ENST00000361757.8|NM_014963.3" HGNC:24950 SBSN suprabasin protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "UNQ698|HLAR698" 2006-03-20 2023-01-20 374897 ENSG00000189001 OTTHUMG00000048102 uc002oae.2 AY358701 NM_198538 "CCDS12464|CCDS54253" Q6UWP8 12228223 MGI:2446326 RGD:1562305 609969 HGNC:24950 "ENST00000452271.7|NM_001166034.2" HGNC:30362 SBSPON somatomedin B and thrombospondin type 1 domain containing protein-coding gene gene with protein product Approved 8q21.11 08q21.11 RPESP "RPE spondin|rpe-spondin" C8orf84 chromosome 8 open reading frame 84 2009-01-09 2012-05-15 2015-11-09 2023-01-20 157869 ENSG00000164764 OTTHUMG00000157144 uc003xzf.4 NM_153225 CCDS43747 Q8IVN8 12107410 MGI:2684952 RGD:1559717 HGNC:30362 "ENST00000297354.7|NM_153225.4" HGNC:10546 SC4MOP sterol-C4-methyl oxidase pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 DESP4P1 1997-11-10 2020-01-20 6308 ENSG00000224339 U93261 NG_001194 HGNC:10546 @@ -34545,25 +34548,25 @@ HGNC:10547 SC5D sterol-C5-desaturase protein-coding gene gene with protein produ HGNC:43718 SCAANT1 SCA7/ATXN7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 ATXN7-AS1 "ATXN7 antisense RNA 1 (non-protein coding)|spinocerebellar ataxia-7 antisense noncoding transcript 1" SCA7/ATXN7 antisense RNA 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2012-02-03 2012-08-15 2017-10-25 100861563 ENSG00000280620 OTTHUMG00000189735 uc062let.1 BU569004 NR_148359 21689595 614481 HGNC:43718 HGNC:30403 SCAF1 SR-related CTD associated factor 1 protein-coding gene gene with protein product Approved 19q13.3-q13.4 19q13.3-q13.4 "SR-A1|FLJ00034" 2007-08-09 2016-03-14 2023-01-20 58506 ENSG00000126461 OTTHUMG00000183238 uc002poq.4 AK024444 NM_021228 CCDS33074 Q9H7N4 11461075 MGI:2141980 RGD:708405 617264 HGNC:30403 "ENST00000360565.8|NM_021228.3" HGNC:19304 SCAF4 SR-related CTD associated factor 4 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "KIAA1172|DKFZp434E098|SRA4" SFRS15 splicing factor, arginine/serine-rich 15 RNA binding motif containing 725 2003-12-15 2011-01-10 2016-03-14 2023-01-20 57466 ENSG00000156304 OTTHUMG00000084903 uc002ypd.3 AB032998 NM_020706 "CCDS33537|CCDS54482|CCDS46644" O95104 10574461 MGI:2146350 RGD:727896 616023 HGNC:19304 "ENST00000286835.12|NM_020706.2" HGNC:19304 -HGNC:20959 SCAF8 SR-related CTD associated factor 8 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 KIAA1116 RBM16 RNA binding motif protein 16 RNA binding motif containing 725 2003-04-24 2011-01-10 2016-03-14 2023-01-20 22828 ENSG00000213079 OTTHUMG00000015877 uc003qpz.5 AB029039 NM_014892 "CCDS69226|CCDS75541|CCDS5247" Q9UPN6 10470851 MGI:1925212 RGD:708362 616024 HGNC:20959 "ENST00000367178.8|NM_014892.5" +HGNC:20959 SCAF8 SR-related CTD associated factor 8 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 KIAA1116 RBM16 RNA binding motif protein 16 RNA binding motif containing 725 2003-04-24 2011-01-10 2016-03-14 2023-01-20 22828 ENSG00000213079 OTTHUMG00000015877 uc003qpz.5 AB029039 NM_014892 "CCDS5247|CCDS69226|CCDS75541" Q9UPN6 10470851 MGI:1925212 RGD:708362 616024 HGNC:20959 "ENST00000367178.8|NM_014892.5" HGNC:10784 SCAF11 SR-related CTD associated factor 11 protein-coding gene gene with protein product Approved 12q12 12q12 "SIP1|SRRP129|CASP11" "SFRS2IP|SRSF2IP" "splicing factor, arginine/serine-rich 2, interacting protein|serine/arginine-rich splicing factor 2, interacting protein" Ring finger proteins 58 2000-05-05 2011-01-10 2016-03-14 2023-01-20 9169 ENSG00000139218 OTTHUMG00000149930 uc001rox.4 Y11251 NM_004719 CCDS8748 Q99590 "9224939|9447963" MGI:1919443 RGD:1598325 603668 HGNC:10784 "ENST00000369367.8|NM_004719.3" -HGNC:26709 SCAI suppressor of cancer cell invasion protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "FLJ36664|NET40" C9orf126 chromosome 9 open reading frame 126 2004-04-15 2009-07-09 2009-07-09 2023-01-20 286205 ENSG00000173611 OTTHUMG00000020667 uc004bpe.4 AK093983 NM_173690 "CCDS48017|CCDS43877" Q8N9R8 "19350017|27820601" MGI:2443716 RGD:1594720 619222 HGNC:26709 "ENST00000336505.11|NM_001144877.3" +HGNC:26709 SCAI suppressor of cancer cell invasion protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "FLJ36664|NET40" C9orf126 chromosome 9 open reading frame 126 2004-04-15 2009-07-09 2009-07-09 2023-01-20 286205 ENSG00000173611 OTTHUMG00000020667 uc004bpe.4 AK093983 NM_173690 "CCDS43877|CCDS48017" Q8N9R8 "19350017|27820601" MGI:2443716 RGD:1594720 619222 HGNC:26709 "ENST00000336505.11|NM_001144877.3" HGNC:10563 SCAMP1 secretory carrier membrane protein 1 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 SCAMP37 Secretory carrier membrane proteins 735 1999-05-21 2023-01-20 9522 ENSG00000085365 OTTHUMG00000162479 uc032uzx.2 AF038966 NM_004866 "CCDS75264|CCDS78025" O15126 9378760 MGI:1349480 RGD:3625 606911 HGNC:10563 "ENST00000621999.5|NM_004866.6" HGNC:50544 SCAMP1-AS1 SCAMP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 Antisense RNAs 1987 2014-05-14 2014-05-20 728769 ENSG00000245556 OTTHUMG00000162481 NR_105014 SCAMP1-AS1 HGNC:50544 HGNC:10564 SCAMP2 secretory carrier membrane protein 2 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 Secretory carrier membrane proteins 735 1999-05-21 2023-01-20 10066 ENSG00000140497 OTTHUMG00000142817 uc002azb.2 AF005038 NM_005697 CCDS10271 O15127 9378760 MGI:1346518 RGD:68348 606912 HGNC:10564 "ENST00000268099.13|NM_005697.5" -HGNC:10565 SCAMP3 secretory carrier membrane protein 3 protein-coding gene gene with protein product Approved 1q22 01q22 Propin 1 C1orf3 Secretory carrier membrane proteins 735 1999-05-21 2023-01-20 10067 ENSG00000116521 OTTHUMG00000035874 uc001fjs.4 AF005039 NM_005698 "CCDS1105|CCDS1106" O14828 "9331372|9658162" MGI:1346346 RGD:68351 606913 HGNC:10565 "ENST00000302631.8|NM_005698.4" -HGNC:30385 SCAMP4 secretory carrier membrane protein 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ33847 Secretory carrier membrane proteins 735 2004-02-13 2023-01-20 113178 ENSG00000227500 OTTHUMG00000154590 uc002luj.5 AK091166 NM_079834 "CCDS86689|CCDS45903" Q969E2 MGI:1928947 RGD:68354 613764 HGNC:30385 "ENST00000316097.13|NM_079834.4" +HGNC:10565 SCAMP3 secretory carrier membrane protein 3 protein-coding gene gene with protein product Approved 1q22 01q22 Propin 1 C1orf3 Secretory carrier membrane proteins 735 1999-05-21 2023-01-20 10067 ENSG00000116521 OTTHUMG00000035874 uc001fjs.4 AF005039 NM_005698 "CCDS1106|CCDS1105" O14828 "9331372|9658162" MGI:1346346 RGD:68351 606913 HGNC:10565 "ENST00000302631.8|NM_005698.4" +HGNC:30385 SCAMP4 secretory carrier membrane protein 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ33847 Secretory carrier membrane proteins 735 2004-02-13 2023-01-20 113178 ENSG00000227500 OTTHUMG00000154590 uc002luj.5 AK091166 NM_079834 "CCDS45903|CCDS86689" Q969E2 MGI:1928947 RGD:68354 613764 HGNC:30385 "ENST00000316097.13|NM_079834.4" HGNC:30386 SCAMP5 secretory carrier membrane protein 5 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 MGC24969 Secretory carrier membrane proteins 735 2004-02-13 2023-01-20 192683 ENSG00000198794 OTTHUMG00000172704 uc002azk.3 AL833230 NM_138967 CCDS45306 Q8TAC9 "15840657|19240033" MGI:1928948 RGD:68356 613766 HGNC:30386 "ENST00000425597.8|NM_138967.4" HGNC:30386 HGNC:10566 SCAND1 SCAN domain containing 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "SDP1|RAZ1" SCAN domain-containing 1 SCAN domain containing 42 2000-06-16 2002-01-14 2023-01-20 51282 ENSG00000171222 OTTHUMG00000032370 uc002xep.3 AF204271 NM_016558 CCDS13269 P57086 "10777584|10747874|12444922" MGI:1343132 RGD:1308530 610416 HGNC:10566 "ENST00000305978.7|NM_033630.3" HGNC:10567 SCAND2P SCAN domain containing 2 pseudogene pseudogene pseudogene Approved 15q25.2 15q25.2 SCAND2 "SCAN domain-containing 2|SCAN domain containing 2" 2000-06-16 2013-01-09 2008-07-09 2023-03-15 54581 ENSG00000176700 OTTHUMG00000166569 AF229246 NR_003654 Q9GZW5 "11056053|12036577" 610417 HGNC:10567 -HGNC:13851 SCAND3 SCAN domain containing 3 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZFP38-L|KIAA1925|FLJ31087|Buster4|FAM200D" "ZNF305P2|ZNF452|SCAND3|ZBED9" "zinc finger protein 305 pseudogene 2|zinc finger protein 452|zinc finger BED-type containing 9" SCAN domain containing 42 2003-05-20 2022-10-06 2022-10-06 2023-05-11 114821 ENSG00000232040 OTTHUMG00000016237 AB067512 NM_052923 "CCDS87376|CCDS34355" Q6R2W3 "23533661|23550032" 615254 HGNC:13851 "ENST00000452236.3|NM_052923.2" +HGNC:13851 SCAND3 SCAN domain containing 3 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZFP38-L|KIAA1925|FLJ31087|Buster4|FAM200D" "ZNF305P2|ZNF452|SCAND3|ZBED9" "zinc finger protein 305 pseudogene 2|zinc finger protein 452|zinc finger BED-type containing 9" SCAN domain containing 42 2003-05-20 2022-10-06 2022-10-06 2023-05-11 114821 ENSG00000232040 OTTHUMG00000016237 AB067512 NM_052923 "CCDS34355|CCDS87376" Q6R2W3 "23533661|23550032" 615254 HGNC:13851 "ENST00000452236.3|NM_052923.2" HGNC:42037 SCAND3P1 SCAND3 pseudogene 1 pseudogene pseudogene Approved 13q13.3 13q13.3 "SCAND3P1|ZBED9P1" "SCAN domain containing 3 pseudogene 1|ZBED9 pseudogene 1" 2011-06-01 2022-10-19 2022-10-19 2022-10-19 100873886 ENSG00000232795 OTTHUMG00000016721 NG_028156 HGNC:42037 HGNC:30634 SCAP SREBF chaperone protein-coding gene gene with protein product Approved 3p21.31 03p21.31 KIAA0199 SREBP cleavage activating protein WD repeat domain containing 362 2007-01-02 2023-01-20 22937 ENSG00000114650 OTTHUMG00000125539 uc003crh.2 BC020987 NM_012235 CCDS2755 Q12770 "8898195|8724849|10570913" MGI:2135958 RGD:1309378 601510 HGNC:30634 "ENST00000265565.10|NM_012235.4" -HGNC:13081 SCAPER S-phase cyclin A associated protein in the ER protein-coding gene gene with protein product Approved 15q24.3 15q24.3 Zfp291 ZNF291 zinc finger protein 291 "Zinc fingers C2H2-type|Zinc fingers matrin-type" "28|84" 2000-03-15 2007-08-20 2016-05-16 2023-01-20 49855 ENSG00000140386 OTTHUMG00000172655 uc002bby.4 "AB040887|AF242528" NM_020843 "CCDS53962|CCDS53961" Q9BY12 17698606 MGI:1925976 RGD:621585 611611 HGNC:13081 "ENST00000563290.6|NM_020843.4" HGNC:13081 +HGNC:13081 SCAPER S-phase cyclin A associated protein in the ER protein-coding gene gene with protein product Approved 15q24.3 15q24.3 Zfp291 ZNF291 zinc finger protein 291 "Zinc fingers C2H2-type|Zinc fingers matrin-type" "28|84" 2000-03-15 2007-08-20 2016-05-16 2023-01-20 49855 ENSG00000140386 OTTHUMG00000172655 uc002bby.4 "AB040887|AF242528" NM_020843 "CCDS53961|CCDS53962" Q9BY12 17698606 MGI:1925976 RGD:621585 611611 HGNC:13081 "ENST00000563290.6|NM_020843.4" HGNC:13081 HGNC:19000 SCARA3 scavenger receptor class A member 3 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "CSR1|CSR|MSLR1|APC7|MSRL1" macrophage scavenger receptor-like 1 scavenger receptor class A, member 3 "Scavenger receptors|MicroRNA protein coding host genes" "1253|1691" 2002-09-06 2015-12-16 2023-01-20 51435 ENSG00000168077 OTTHUMG00000163898 uc003xga.2 AB007829 NM_016240 "CCDS34870|CCDS34871" Q6AZY7 "9747040|9580669" MGI:2444418 RGD:1309269 602728 HGNC:19000 "ENST00000301904.4|NM_016240.3" HGNC:28701 SCARA5 scavenger receptor class A member 5 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "FLJ23907|MGC45780|NET33" "scavenger receptor class A, member 5 (putative)|scavenger receptor class A, member 5" "Scavenger receptors|Scavenger receptor cysteine rich domain containing|MicroRNA protein coding host genes" "1253|1404|1691" 2005-10-04 2015-12-16 2023-01-20 286133 ENSG00000168079 OTTHUMG00000132172 uc003xgj.4 AK172746 NM_173833 CCDS6064 Q6ZMJ2 19154717 MGI:1918395 RGD:1306539 611306 HGNC:28701 "ENST00000354914.8|NM_173833.6" -HGNC:1664 SCARB1 scavenger receptor class B member 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SRB1|CLA-1|CLA1|SR-BI" CD36L1 "CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1|scavenger receptor class B, member 1" Scavenger receptors 1253 1994-09-06 2002-09-06 2015-12-16 2023-01-20 949 ENSG00000073060 OTTHUMG00000168544 uc001ugm.5 Z22555 NM_005505 "CCDS91771|CCDS45008|CCDS9259|CCDS91770|CCDS91769" Q8WTV0 7689561 MGI:893578 RGD:2302 601040 471028 HGNC:1664 "ENST00000261693.11|NM_005505.5" -HGNC:1665 SCARB2 scavenger receptor class B member 2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "HLGP85|LIMPII|SR-BII|LIMP-2" "lysosome membrane protein 2|lysosomal integral membrane protein II" CD36L2 CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II) Scavenger receptors 1253 1994-09-07 2002-09-06 2015-12-16 2023-01-20 950 ENSG00000138760 OTTHUMG00000130099 uc003hju.3 D12676 NM_005506 "CCDS3577|CCDS56335" Q14108 1374238 MGI:1196458 RGD:621882 602257 165923 HGNC:1665 "ENST00000264896.8|NM_005506.4" HGNC:1665 +HGNC:1664 SCARB1 scavenger receptor class B member 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SRB1|CLA-1|CLA1|SR-BI" CD36L1 "CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1|scavenger receptor class B, member 1" Scavenger receptors 1253 1994-09-06 2002-09-06 2015-12-16 2023-01-20 949 ENSG00000073060 OTTHUMG00000168544 uc001ugm.5 Z22555 NM_005505 "CCDS9259|CCDS45008|CCDS91771|CCDS91769|CCDS91770" Q8WTV0 7689561 MGI:893578 RGD:2302 601040 471028 HGNC:1664 "ENST00000261693.11|NM_005505.5" +HGNC:1665 SCARB2 scavenger receptor class B member 2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "HLGP85|LIMPII|SR-BII|LIMP-2" "lysosome membrane protein 2|lysosomal integral membrane protein II" CD36L2 CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II) Scavenger receptors 1253 1994-09-07 2002-09-06 2015-12-16 2023-01-20 950 ENSG00000138760 OTTHUMG00000130099 uc003hju.3 D12676 NM_005506 "CCDS56335|CCDS3577" Q14108 1374238 MGI:1196458 RGD:621882 602257 165923 HGNC:1665 "ENST00000264896.8|NM_005506.4" HGNC:1665 HGNC:16820 SCARF1 scavenger receptor class F member 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "SREC|KIAA0149|SREC1" "scavenger receptor expressed by endothelial cells|acetyl LDL receptor" scavenger receptor class F, member 1 Scavenger receptors 1253 2002-09-06 2015-12-16 2023-03-15 8578 ENSG00000074660 OTTHUMG00000090555 uc002fsz.3 D63483 NM_003693 "CCDS11007|CCDS45564" Q14162 "9395444|8590280" MGI:2449455 RGD:1309330 607873 HGNC:16820 "ENST00000263071.9|NM_003693.4" HGNC:19869 SCARF2 scavenger receptor class F member 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "SREC-II|SREC2|HUMZD58C02" scavenger receptor class F, member 2 Scavenger receptors 1253 2003-02-13 2015-12-16 2023-01-20 91179 ENSG00000244486 OTTHUMG00000150779 uc062bss.1 AF522196 NM_153334 Q96GP6 12154095 MGI:1858430 RGD:1306013 613619 244390 HGNC:19869 "ENST00000622235.5|NM_182895.5" HGNC:19869 HGNC:32555 SCARNA1 small Cajal body-specific RNA 1 non-coding RNA RNA, small nucleolar Approved 1p35.3 01p35.3 ACA35 Small Cajal body-specific RNAs 847 2006-03-31 2017-01-11 677774 ENSG00000252947 uc001boy.1 AJ609484 NR_002997 SR0000002 HGNC:32555 @@ -34601,15 +34604,15 @@ HGNC:53976 SCAT2 S-phase cancer associated transcript 2 non-coding RNA RNA, long HGNC:40967 SCAT8 S-phase cancer associated transcript 8 non-coding RNA RNA, long non-coding Approved 6q12 06q12 EYS-AS1 EYS antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2018-08-03 2018-08-03 112935969 ENSG00000236345 OTTHUMG00000014954 NR_157848 29491376 HGNC:40967 HGNC:24275 SCCPDH saccharopine dehydrogenase (putative) protein-coding gene gene with protein product Approved 1q44 01q44 "CGI-49|NET11" 2005-06-22 2023-01-20 51097 ENSG00000143653 OTTHUMG00000040221 uc001ibr.4 NM_016002 CCDS31084 Q8NBX0 10810093 MGI:1924486 RGD:1311440 HGNC:24275 "ENST00000366510.4|NM_016002.3" HGNC:10571 SCD stearoyl-CoA desaturase protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FADS5|SCD1" "acyl-CoA desaturase|fatty acid desaturase|delta-9-desaturase" SCDOS "stearoyl-CoA desaturase opposite strand|stearoyl-CoA desaturase (delta-9-desaturase)" Fatty acid desaturases 553 1995-01-03 2016-05-20 2023-01-20 6319 ENSG00000099194 OTTHUMG00000018906 uc001kqy.4 AF097514 NM_005063 CCDS7493 O00767 "7909540|10229681" "MGI:1353437|MGI:2670997|MGI:98239|MGI:98240" RGD:621176 604031 1.14.19.1 HGNC:10571 "ENST00000370355.3|NM_005063.5" -HGNC:21088 SCD5 stearoyl-CoA desaturase 5 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "ACOD4|FLJ21032|FADS4|HSCD5" SCD4 stearoyl-CoA desaturase 4 "Fatty acid desaturases|MicroRNA protein coding host genes" "553|1691" 2003-05-16 2005-06-09 2005-06-09 2023-01-20 79966 ENSG00000145284 OTTHUMG00000130293 uc003hna.3 AF389338 NM_024906 "CCDS34024|CCDS3595" Q86SK9 "15907797|21595943" 608370 HGNC:21088 "ENST00000319540.9|NM_001037582.3" +HGNC:21088 SCD5 stearoyl-CoA desaturase 5 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "ACOD4|FLJ21032|FADS4|HSCD5" SCD4 stearoyl-CoA desaturase 4 "Fatty acid desaturases|MicroRNA protein coding host genes" "553|1691" 2003-05-16 2005-06-09 2005-06-09 2023-01-20 79966 ENSG00000145284 OTTHUMG00000130293 uc003hna.3 AF389338 NM_024906 "CCDS3595|CCDS34024" Q86SK9 "15907797|21595943" 608370 HGNC:21088 "ENST00000319540.9|NM_001037582.3" HGNC:10572 SCDP1 stearoyl-CoA desaturase pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 SCDP "stearoyl-CoA desaturase (delta-9-desaturase) pseudogene|stearoyl-CoA desaturase (delta-9-desaturase) pseudogene 1" 1999-07-30 2010-03-05 2016-06-27 2020-04-20 645313 ENSG00000226549 OTTHUMG00000059556 NG_016706 10229681 PGOHUM00000237298 HGNC:10572 HGNC:10573 SCEL sciellin protein-coding gene gene with protein product Approved 13q22.3 13q22.3 "FLJ21667|MGC22531" LIM domain containing 1218 1998-11-26 2023-01-20 8796 ENSG00000136155 OTTHUMG00000017107 uc001vki.4 AF045941 NM_144777 "CCDS53877|CCDS9458|CCDS9459" O95171 9813070 MGI:1891228 RGD:1305102 604112 HGNC:10573 "ENST00000349847.4|NM_144777.3" HGNC:39895 SCEL-AS1 SCEL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q22.3 13q22.3 SCEL antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2012-10-12 104355296 ENSG00000224347 OTTHUMG00000017106 uc058xpi.1 NR_126412 SCEL-AS1 HGNC:39895 -HGNC:20726 SCFD1 sec1 family domain containing 1 protein-coding gene gene with protein product Approved 14q12 14q12 "RA410|KIAA0917|STXBP1L2|SLY1" C14orf163 chromosome 14 open reading frame 163 2003-03-25 2004-01-16 2004-01-15 2023-01-20 23256 ENSG00000092108 OTTHUMG00000029420 uc001wqm.3 AF110646 NM_182835 "CCDS58308|CCDS9639|CCDS91858|CCDS45092" Q8WVM8 MGI:1924233 RGD:619828 618207 HGNC:20726 "ENST00000458591.7|NM_016106.4" +HGNC:20726 SCFD1 sec1 family domain containing 1 protein-coding gene gene with protein product Approved 14q12 14q12 "RA410|KIAA0917|STXBP1L2|SLY1" C14orf163 chromosome 14 open reading frame 163 2003-03-25 2004-01-16 2004-01-15 2023-01-20 23256 ENSG00000092108 OTTHUMG00000029420 uc001wqm.3 AF110646 NM_182835 "CCDS45092|CCDS9639|CCDS58308|CCDS91858" Q8WVM8 MGI:1924233 RGD:619828 618207 HGNC:20726 "ENST00000458591.7|NM_016106.4" HGNC:30676 SCFD2 sec1 family domain containing 2 protein-coding gene gene with protein product Approved 4q12 04q12 "STXBP1L1|FLJ39514" 2004-01-15 2023-01-20 152579 ENSG00000184178 OTTHUMG00000160588 uc003gzu.4 AY299407 NM_152540 CCDS33984 Q8WU76 32213542 MGI:2443446 RGD:1562708 HGNC:30676 "ENST00000401642.8|NM_152540.4" HGNC:10575 SCG2 secretogranin II protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "CHGC|SgII|SN" "secretoneurin|chromogranin C" Granins 925 1999-01-26 2010-04-27 2023-01-20 7857 ENSG00000171951 OTTHUMG00000133166 uc002vnm.4 M25756 NM_003469 CCDS2457 P13521 "8617499|16101435" MGI:103033 RGD:3626 118930 HGNC:10575 "ENST00000305409.3|NM_003469.5" HGNC:13707 SCG3 secretogranin III protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "SgIII|FLJ90833" Granins 925 2000-10-18 2023-01-20 29106 ENSG00000104112 OTTHUMG00000131748 uc002abh.4 AF078851 NM_013243 "CCDS10142|CCDS53947" Q8WXD2 "2053134|8825061" MGI:103032 RGD:621209 611796 HGNC:13707 "ENST00000220478.8|NM_013243.4" -HGNC:10816 SCG5 secretogranin V protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "7B2|SgV" prohormone convertase chaperone SGNE1 secretory granule, neuroendocrine protein 1 (7B2 protein) Granins 925 1989-09-22 2006-03-20 2015-03-16 2023-01-20 6447 ENSG00000166922 OTTHUMG00000159447 uc001zha.3 Y00757 NM_003020 "CCDS91974|CCDS91975|CCDS45208|CCDS45207" P05408 "8162254|12646671" MGI:98289 RGD:3669 173120 I21.001 HGNC:10816 "ENST00000300175.9|NM_001144757.3" +HGNC:10816 SCG5 secretogranin V protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "7B2|SgV" prohormone convertase chaperone SGNE1 secretory granule, neuroendocrine protein 1 (7B2 protein) Granins 925 1989-09-22 2006-03-20 2015-03-16 2023-01-20 6447 ENSG00000166922 OTTHUMG00000159447 uc001zha.3 Y00757 NM_003020 "CCDS91975|CCDS45208|CCDS91974|CCDS45207" P05408 "8162254|12646671" MGI:98289 RGD:3669 173120 I21.001 HGNC:10816 "ENST00000300175.9|NM_001144757.3" HGNC:40524 SCG5-AS1 SCG5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 Antisense RNAs 1987 2020-03-19 2020-03-19 105370757 ENSG00000241818 OTTHUMG00000159446 NR_135505 HGNC:12523 SCGB1A1 secretoglobin family 1A member 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "CC10|CCSP|CC16" "Uteroglobin (Clara cell specific 10-kD protein)|club cell protein 16|club secretory protein 16" UGB uteroglobin Secretoglobins 734 1992-11-03 2002-03-22 2016-01-05 2023-01-20 7356 ENSG00000149021 OTTHUMG00000167526 uc001ntj.4 NM_003357 CCDS8020 P11684 "1284526|22155607" MGI:98919 RGD:3934 192020 HGNC:12523 "ENST00000278282.3|NM_003357.5" HGNC:18392 SCGB1B1P secretoglobin family 1B member 1, pseudogene pseudogene pseudogene Approved 19q13.1 19q13.1 Abpa1p Secretoglobins 734 2013-10-23 2016-01-05 2016-02-08 112441443 NG_066026 22155607 HGNC:18392 @@ -34629,33 +34632,33 @@ HGNC:31895 SCGB2B3P secretoglobin family 2B member 3, pseudogene pseudogene pseu HGNC:18384 SCGB3A1 secretoglobin family 3A member 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "UGRP2|HIN-1|HIN1|LU105|PnSP-2" "cytokine high in normal-1|pneumo secretory protein 2" Secretoglobins 734 2002-03-22 2016-01-05 2023-01-20 92304 ENSG00000161055 OTTHUMG00000130936 uc003mly.4 AF313458 NM_052863 CCDS4456 Q96QR1 "11682631|11481438|22155607" MGI:1915912 RGD:727901 606500 HGNC:18384 "ENST00000292641.4|NM_052863.3" HGNC:18391 SCGB3A2 secretoglobin family 3A member 2 protein-coding gene gene with protein product Approved 5q32 05q32 "UGRP1|LU103|PNSP1" "uteroglobin-related protein 1|pneumo secretory protein 1|uteroglobin related protein 1" Secretoglobins 734 2002-03-22 2016-01-05 2023-01-20 117156 ENSG00000164265 OTTHUMG00000129729 uc003lot.3 AF313455 NM_054023 CCDS4287 Q96PL1 "11682631|22155607" MGI:2153470 RGD:1564790 606531 HGNC:18391 "ENST00000296694.5|NM_054023.5" HGNC:16941 SCGN secretagogin, EF-hand calcium binding protein protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "SECRET|DJ501N12.8|SEGN|CALBL" calbindin-like EF-hand domain containing 863 2002-05-23 2023-01-20 10590 ENSG00000079689 OTTHUMG00000014409 uc003nfb.4 BC000336 NM_006998 CCDS4561 O76038 10811645 MGI:2384873 RGD:1303281 609202 HGNC:16941 "ENST00000377961.3|NM_006998.4" -HGNC:15678 SCHIP1 schwannomin interacting protein 1 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 SCHIP-1 schwannomin-interacting protein 1 MicroRNA protein coding host genes 1691 2001-05-09 2001-11-29 2023-01-20 29970 ENSG00000151967 OTTHUMG00000158934 uc003fcu.3 AF070614 NM_014575 "CCDS3186|CCDS56294|CCDS93418|CCDS93419|CCDS56293|CCDS56292" P0DPB3 "10669747|8619474|17045569" MGI:1353557 RGD:1309962 619206 HGNC:15678 "ENST00000638749.2|NM_014575.4" HGNC:15678 +HGNC:15678 SCHIP1 schwannomin interacting protein 1 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 SCHIP-1 schwannomin-interacting protein 1 MicroRNA protein coding host genes 1691 2001-05-09 2001-11-29 2023-01-20 29970 ENSG00000151967 OTTHUMG00000158934 uc003fcu.3 AF070614 NM_014575 "CCDS93419|CCDS56294|CCDS56292|CCDS93418|CCDS56293|CCDS3186" P0DPB3 "10669747|8619474|17045569" MGI:1353557 RGD:1309962 619206 HGNC:15678 "ENST00000638749.2|NM_014575.4" HGNC:15678 HGNC:48603 SCHLAP1 SWI/SNF complex antagonist associated with prostate cancer 1 non-coding RNA RNA, long non-coding Approved 2q31.3 02q31.3 PCAT11 "Second Chromosome Locus Associated with Prostate 1|prostate cancer associated transcript 11" LINC00913 "long intergenic non-protein coding RNA 913|SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-05-21 2013-12-06 2018-05-16 2020-05-04 101669767 ENSG00000281131 OTTHUMG00000189571 JX117418 NR_104323 "24076601|24165726" 615568 schlap1 SCHLAP1 HGNC:48603 -HGNC:33504 SCIMP SLP adaptor and CSK interacting membrane protein protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "DTFT5783|UNQ5783|FLJ32580|MGC163426|MGC163428" SLP65/SLP76, Csk-interacting membrane protein C17orf87 chromosome 17 open reading frame 87 2007-06-25 2011-11-23 2011-11-23 2023-01-20 388325 ENSG00000161929 OTTHUMG00000132914 uc002gbh.4 AY358809 NM_207103 "CCDS42242|CCDS82046|CCDS62044" Q6UWF3 21930792 MGI:3610314 RGD:1593299 614406 HGNC:33504 "ENST00000574081.6|NM_207103.3" -HGNC:21695 SCIN scinderin protein-coding gene gene with protein product Approved 7p21.3 07p21.3 KIAA1905 adseverin Gelsolin/villins 950 2003-07-10 2023-01-20 85477 ENSG00000006747 OTTHUMG00000152385 uc003ssn.5 AF276507 NM_033128 "CCDS47546|CCDS47545" Q9Y6U3 MGI:1306794 RGD:735034 613416 HGNC:21695 "ENST00000297029.10|NM_001112706.3" +HGNC:33504 SCIMP SLP adaptor and CSK interacting membrane protein protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "DTFT5783|UNQ5783|FLJ32580|MGC163426|MGC163428" SLP65/SLP76, Csk-interacting membrane protein C17orf87 chromosome 17 open reading frame 87 2007-06-25 2011-11-23 2011-11-23 2023-01-20 388325 ENSG00000161929 OTTHUMG00000132914 uc002gbh.4 AY358809 NM_207103 "CCDS62044|CCDS82046|CCDS42242" Q6UWF3 21930792 MGI:3610314 RGD:1593299 614406 HGNC:33504 "ENST00000574081.6|NM_207103.3" +HGNC:21695 SCIN scinderin protein-coding gene gene with protein product Approved 7p21.3 07p21.3 KIAA1905 adseverin Gelsolin/villins 950 2003-07-10 2023-01-20 85477 ENSG00000006747 OTTHUMG00000152385 uc003ssn.5 AF276507 NM_033128 "CCDS47545|CCDS47546" Q9Y6U3 MGI:1306794 RGD:735034 613416 HGNC:21695 "ENST00000297029.10|NM_001112706.3" HGNC:55341 SCIRT stem cell inhibitory RNA transcript non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 "DATOC-1|AL109615.3" DICER Associated Transcript 1 in Ovarian Cancer Long non-coding RNAs with non-systematic symbols 1992 2020-11-11 2022-09-16 101929705 ENSG00000237686 NR_125864 "33172932|35116553" -HGNC:26406 SCLT1 sodium channel and clathrin linker 1 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 "hCAP-1A|FLJ30655" 2006-07-18 2023-01-20 132320 ENSG00000151466 OTTHUMG00000133346 uc003igp.3 AK055217 NM_144643 "CCDS77958|CCDS77957|CCDS93634|CCDS3740" Q96NL6 15797711 MGI:1914411 RGD:628721 611399 471030 HGNC:26406 "ENST00000281142.10|NM_144643.4" HGNC:26406 +HGNC:26406 SCLT1 sodium channel and clathrin linker 1 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 "hCAP-1A|FLJ30655" 2006-07-18 2023-01-20 132320 ENSG00000151466 OTTHUMG00000133346 uc003igp.3 AK055217 NM_144643 "CCDS77957|CCDS77958|CCDS3740|CCDS93634" Q96NL6 15797711 MGI:1914411 RGD:628721 611399 471030 HGNC:26406 "ENST00000281142.10|NM_144643.4" HGNC:26406 HGNC:18161 SCLY selenocysteine lyase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 SCL putative selenocysteine lyase 2004-02-03 2023-01-20 51540 ENSG00000132330 OTTHUMG00000133336 uc010fyv.5 AF175767 NM_016510 CCDS2524 Q96I15 10692412 MGI:1355310 RGD:1359514 611056 4.4.1.16 HGNC:18161 "ENST00000254663.12|NM_016510.7" -HGNC:19003 SCMH1 Scm polycomb group protein homolog 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Scml3 sex comb on midleg homolog 1 (Drosophila) "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 2003-01-15 2017-07-18 2023-01-20 22955 ENSG00000010803 OTTHUMG00000005720 uc057fhs.1 AF149045 NM_001031694 "CCDS53304|CCDS53301|CCDS461|CCDS53303|CCDS30688|CCDS90928|CCDS53302|CCDS90927" Q96GD3 10524249 MGI:1352762 RGD:1305788 616396 HGNC:19003 "ENST00000695335.1|NM_001394311.1" -HGNC:55675 SCMH1-DT SCMH1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-07-01 2021-07-01 121847982 ENSG00000235358 +HGNC:19003 SCMH1 Scm polycomb group protein homolog 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Scml3 sex comb on midleg homolog 1 (Drosophila) "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 2003-01-15 2017-07-18 2023-01-20 22955 ENSG00000010803 OTTHUMG00000005720 uc057fhs.1 AF149045 NM_001031694 "CCDS90928|CCDS461|CCDS90927|CCDS30688|CCDS53302|CCDS53304|CCDS53301|CCDS53303" Q96GD3 10524249 MGI:1352762 RGD:1305788 616396 HGNC:19003 "ENST00000695335.1|NM_001394311.1" +HGNC:55675 SCMH1-DT SCMH1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-07-01 2023-06-09 102723924 ENSG00000235358 XR_001756815 HGNC:10580 SCML1 Scm polycomb group protein like 1 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "sex comb on midleg (Drosophila)-like 1|sex comb on midleg like 1 (Drosophila)" Sterile alpha motif domain containing 760 1997-09-05 2017-07-18 2023-01-20 6322 ENSG00000047634 OTTHUMG00000021206 uc004cyc.5 NM_006746 "CCDS14182|CCDS35211|CCDS35210" Q9UN30 9570953 RGD:7723901 300227 HGNC:10580 "ENST00000380041.8|NM_001037540.3" HGNC:10581 SCML2 Scm polycomb group protein like 2 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "sex comb on midleg (Drosophila)-like 2|sex comb on midleg like 2 (Drosophila)" "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 1999-06-17 2017-07-18 2023-01-20 10389 ENSG00000102098 OTTHUMG00000021212 uc004cyl.3 Y18004 NM_006089 CCDS14185 Q9UQR0 10331946 MGI:1340042 RGD:1564289 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SCML2 300208 HGNC:10581 "ENST00000251900.9|NM_006089.3" HGNC:44329 SCML2P1 SCML2 pseudogene 1 pseudogene pseudogene Approved 18p11.31 18p11.31 2012-08-13 2014-12-17 2014-12-17 100421167 ENSG00000264127 OTTHUMG00000178891 NG_026306 PGOHUM00000234978 HGNC:44329 HGNC:44330 SCML2P2 SCML2 pseudogene 2 pseudogene pseudogene Approved 16p12.1 16p12.1 2012-08-13 2014-12-17 2017-10-26 100421172 ENSG00000271105 OTTHUMG00000184811 NG_026403 PGOHUM00000293747 HGNC:44330 -HGNC:21397 SCML4 Scm polycomb group protein like 4 protein-coding gene gene with protein product Approved 6q21 06q21 dJ47M23.1 sex comb on midleg like 4 (Drosophila) Sterile alpha motif domain containing 760 2003-06-11 2017-07-18 2023-01-20 256380 ENSG00000146285 OTTHUMG00000015313 uc010kdf.5 NM_198081 "CCDS69163|CCDS5060|CCDS75500" Q8N228 MGI:2446140 RGD:1310898 HGNC:21397 "ENST00000369020.8|NM_198081.5" -HGNC:10585 SCN1A sodium voltage-gated channel alpha subunit 1 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "Nav1.1|GEFSP2|HBSCI|NAC1|SMEI" "SCN1|FEB3" "febrile convulsions 3|sodium channel, voltage-gated, type I, alpha subunit|sodium channel, voltage gated, type I alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1988-11-28 2016-02-05 2023-01-20 6323 ENSG00000144285 OTTHUMG00000044173 uc061peu.1 AB093548 NM_006920 "CCDS54413|CCDS86891|CCDS54414|CCDS33316" P35498 "8062593|16382098|11823106" MGI:98246 RGD:69364 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SCN1A|LRG_8|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_8.xml" 182389 118489 objectId:578 HGNC:10585 "ENST00000674923.1|NM_001165963.4" HGNC:10585 +HGNC:21397 SCML4 Scm polycomb group protein like 4 protein-coding gene gene with protein product Approved 6q21 06q21 dJ47M23.1 sex comb on midleg like 4 (Drosophila) Sterile alpha motif domain containing 760 2003-06-11 2017-07-18 2023-01-20 256380 ENSG00000146285 OTTHUMG00000015313 uc010kdf.5 NM_198081 "CCDS5060|CCDS75500|CCDS69163" Q8N228 MGI:2446140 RGD:1310898 HGNC:21397 "ENST00000369020.8|NM_198081.5" +HGNC:10585 SCN1A sodium voltage-gated channel alpha subunit 1 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "Nav1.1|GEFSP2|HBSCI|NAC1|SMEI" "SCN1|FEB3" "febrile convulsions 3|sodium channel, voltage-gated, type I, alpha subunit|sodium channel, voltage gated, type I alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1988-11-28 2016-02-05 2023-01-20 6323 ENSG00000144285 OTTHUMG00000044173 uc061peu.1 AB093548 NM_006920 "CCDS86891|CCDS54413|CCDS33316|CCDS54414" P35498 "8062593|16382098|11823106" MGI:98246 RGD:69364 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SCN1A|LRG_8|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_8.xml" 182389 118489 objectId:578 HGNC:10585 "ENST00000674923.1|NM_001165963.4" HGNC:10585 HGNC:54069 SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.3 02q24.3 Antisense RNAs 1987 2018-09-27 2018-09-27 2018-09-27 2018-09-27 101929680 ENSG00000236107 NR_110260 HGNC:54069 -HGNC:10586 SCN1B sodium voltage-gated channel beta subunit 1 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "sodium channel, voltage-gated, type I, beta polypeptide|sodium channel, voltage-gated, type I, beta|sodium channel, voltage-gated, type I, beta subunit|sodium channel, voltage gated, type I beta subunit" "V-set domain containing|Sodium voltage-gated channel beta subunits" "590|1204" 1990-05-14 2016-02-05 2023-01-20 6324 ENSG00000105711 OTTHUMG00000182472 uc002nxp.4 NM_001037 "CCDS86744|CCDS12441|CCDS46047" Q07699 8394762 MGI:98247 RGD:3631 LRG_420|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_420.xml 600235 118498 HGNC:10586 "ENST00000262631.11|NM_001037.5" HGNC:10586 +HGNC:10586 SCN1B sodium voltage-gated channel beta subunit 1 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "sodium channel, voltage-gated, type I, beta polypeptide|sodium channel, voltage-gated, type I, beta|sodium channel, voltage-gated, type I, beta subunit|sodium channel, voltage gated, type I beta subunit" "V-set domain containing|Sodium voltage-gated channel beta subunits" "590|1204" 1990-05-14 2016-02-05 2023-01-20 6324 ENSG00000105711 OTTHUMG00000182472 uc002nxp.4 NM_001037 "CCDS12441|CCDS46047|CCDS86744" Q07699 8394762 MGI:98247 RGD:3631 LRG_420|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_420.xml 600235 118498 HGNC:10586 "ENST00000262631.11|NM_001037.5" HGNC:10586 HGNC:10588 SCN2A sodium voltage-gated channel alpha subunit 2 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "Nav1.2|HBSCII|HBSCI" "SCN2A1|SCN2A2" "sodium channel, voltage-gated, type II, alpha 2 polypeptide|sodium channel, voltage-gated, type II, alpha 1 polypeptide|sodium channel, voltage-gated, type II, alpha subunit|sodium channel, voltage gated, type II alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1992-08-07 2007-01-23 2016-02-05 2023-01-20 6326 ENSG00000136531 OTTHUMG00000044172 uc061pdo.1 AB208888 NM_021007 "CCDS33314|CCDS33313" Q99250 "1317301|16382098" MGI:98248 RGD:3632 182390 118500 objectId:579 HGNC:10588 "ENST00000375437.7|NM_001040142.2" HGNC:10588 HGNC:10589 SCN2B sodium voltage-gated channel beta subunit 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "sodium channel, voltage-gated, type II, beta polypeptide|sodium channel, voltage-gated, type II, beta|sodium channel, voltage-gated, type II, beta subunit|sodium channel, voltage gated, type II beta subunit" "V-set domain containing|Sodium voltage-gated channel beta subunits" "590|1204" 1988-11-28 2016-02-05 2023-01-20 6327 ENSG00000149575 OTTHUMG00000048248 uc001psf.3 AY358945 NM_004588 CCDS8390 O60939 10198179 MGI:106921 RGD:3633 601327 361157 HGNC:10589 "ENST00000278947.6|NM_004588.5" HGNC:10589 HGNC:10590 SCN3A sodium voltage-gated channel alpha subunit 3 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 Nav1.3 "sodium channel, voltage-gated, type III, alpha polypeptide|sodium channel, voltage-gated, type III, alpha subunit|sodium channel, voltage gated, type III alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1992-04-10 2016-02-05 2023-01-20 6328 ENSG00000153253 OTTHUMG00000044171 uc002ucx.4 AF035685 NM_006922 "CCDS33312|CCDS46440" Q9NY46 "9589372|16382098" MGI:98249 RGD:3635 182391 471032 objectId:580 HGNC:10590 "ENST00000283254.12|NM_006922.4" HGNC:10590 HGNC:20665 SCN3B sodium voltage-gated channel beta subunit 3 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 "HSA243396|SCNB3" "sodium channel, voltage-gated, type III, beta|sodium channel, voltage-gated, type III, beta subunit|sodium channel, voltage gated, type III beta subunit" "V-set domain containing|Sodium voltage-gated channel beta subunits" "590|1204" 2003-03-14 2016-02-05 2023-01-20 55800 ENSG00000166257 OTTHUMG00000166006 uc001pza.2 AJ243396 NM_018400 CCDS8442 Q9NY72 10688874 MGI:1918882 RGD:621657 LRG_421|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_421.xml 608214 218675 HGNC:20665 "ENST00000299333.8|NM_001040151.2" HGNC:20665 HGNC:10591 SCN4A sodium voltage-gated channel alpha subunit 4 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "Nav1.4|HYPP|SkM1" HYKPP "sodium channel, voltage-gated, type IV, alpha subunit|sodium channel, voltage gated, type IV alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1990-09-30 2016-02-05 2023-01-20 6329 ENSG00000007314 OTTHUMG00000179046 uc060iti.1 U24693 NM_000334 CCDS45761 P35499 "1654742|1659948|16382098" MGI:98250 RGD:3636 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SCN4A 603967 118507 objectId:581 HGNC:10591 "ENST00000435607.3|NM_000334.4" HGNC:10591 -HGNC:10592 SCN4B sodium voltage-gated channel beta subunit 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 LQT10 "sodium channel, voltage-gated, type IV, beta|sodium channel, voltage-gated, type IV, beta subunit|sodium channel, voltage gated, type IV beta subunit" "V-set domain containing|Sodium voltage-gated channel beta subunits" "590|1204" 1990-09-30 2016-02-05 2023-01-20 6330 ENSG00000177098 OTTHUMG00000166994 uc001pse.4 AY149967 NM_001142348 "CCDS8389|CCDS44744" Q8IWT1 MGI:2687406 RGD:631404 "SCN4B database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=SCN4B|LRG_330|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_330.xml" 608256 160018 HGNC:10592 "ENST00000324727.9|NM_174934.4" HGNC:10592 -HGNC:10593 SCN5A sodium voltage-gated channel alpha subunit 5 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "Nav1.5|LQT3|HB1|HBBD|PFHB1|IVF|HB2|HH1|SSS1|CDCD2|CMPD2|ICCD" long QT syndrome 3 CMD1E "sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)|sodium channel, voltage-gated, type V, alpha subunit|sodium channel, voltage gated, type V alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1992-04-10 2016-02-05 2023-01-20 6331 ENSG00000183873 OTTHUMG00000156166 uc062ihi.1 AJ310893 NM_198056 "CCDS54570|CCDS54569|CCDS46799|CCDS46796|CCDS46797|CCDS46798" Q14524 "7842012|15466643|16382098" MGI:98251 RGD:3637 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|SCN5A database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=SCN5A|LRG_289|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_289.xml" 600163 118513 objectId:582 HGNC:10593 "ENST00000423572.7|NM_000335.5" HGNC:10593 +HGNC:10592 SCN4B sodium voltage-gated channel beta subunit 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 LQT10 "sodium channel, voltage-gated, type IV, beta|sodium channel, voltage-gated, type IV, beta subunit|sodium channel, voltage gated, type IV beta subunit" "V-set domain containing|Sodium voltage-gated channel beta subunits" "590|1204" 1990-09-30 2016-02-05 2023-01-20 6330 ENSG00000177098 OTTHUMG00000166994 uc001pse.4 AY149967 NM_001142348 "CCDS44744|CCDS8389" Q8IWT1 MGI:2687406 RGD:631404 "SCN4B database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=SCN4B|LRG_330|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_330.xml" 608256 160018 HGNC:10592 "ENST00000324727.9|NM_174934.4" HGNC:10592 +HGNC:10593 SCN5A sodium voltage-gated channel alpha subunit 5 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "Nav1.5|LQT3|HB1|HBBD|PFHB1|IVF|HB2|HH1|SSS1|CDCD2|CMPD2|ICCD" long QT syndrome 3 CMD1E "sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)|sodium channel, voltage-gated, type V, alpha subunit|sodium channel, voltage gated, type V alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1992-04-10 2016-02-05 2023-01-20 6331 ENSG00000183873 OTTHUMG00000156166 uc062ihi.1 AJ310893 NM_198056 "CCDS46796|CCDS54569|CCDS46798|CCDS46799|CCDS46797|CCDS54570" Q14524 "7842012|15466643|16382098" MGI:98251 RGD:3637 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|SCN5A database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=SCN5A|LRG_289|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_289.xml" 600163 118513 objectId:582 HGNC:10593 "ENST00000423572.7|NM_000335.5" HGNC:10593 HGNC:10594 SCN7A sodium voltage-gated channel alpha subunit 7 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "Nav2.1|Nav2.2|NaG" SCN6A "sodium channel, voltage-gated, type VI, alpha|sodium channel, voltage-gated, type VII, alpha|sodium channel, voltage-gated, type VII, alpha subunit|sodium channel, voltage gated, type VII alpha subunit" 1992-04-10 2002-06-14 2016-02-05 2023-01-20 6332 ENSG00000136546 OTTHUMG00000154078 uc061pfq.1 M91556 NM_002976 CCDS46442 Q01118 10198179 MGI:102965 RGD:61922 182392 HGNC:10594 "ENST00000643258.1|NM_002976.4" -HGNC:10596 SCN8A sodium voltage-gated channel alpha subunit 8 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "Nav1.6|NaCh6|PN4|CerIII|CIAT" MED "sodium channel, voltage gated, type VIII, alpha polypeptide|sodium channel, voltage gated, type VIII, alpha subunit|sodium channel, voltage gated, type VIII alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1995-08-23 2016-02-05 2023-01-20 6334 ENSG00000196876 OTTHUMG00000169490 uc001ryw.4 AB027567 NM_014191 "CCDS44891|CCDS91697|CCDS81692|CCDS53794" Q9UQD0 "7670495|9828131|16382098" MGI:103169 RGD:3638 LRG_1389|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1389.xml 600702 293928 objectId:583 HGNC:10596 "ENST00000627620.5|NM_001330260.2" HGNC:10596 -HGNC:10597 SCN9A sodium voltage-gated channel alpha subunit 9 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "Nav1.7|PN1|NE-NA|NENA|ETHA" "sodium channel, voltage-gated, type IX, alpha polypeptide|sodium channel, voltage-gated, type IX, alpha subunit|sodium channel, voltage gated, type IX alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1996-04-12 2016-02-05 2023-01-20 6335 ENSG00000169432 OTTHUMG00000154044 uc002udr.2 X82835 NM_002977 "CCDS92892|CCDS46441" Q15858 "7720699|10198179|16382098" MGI:107636 RGD:69368 LRG_369|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_369.xml 603415 118525 objectId:584 HGNC:10597 "ENST00000642356.2|NM_001365536.1" HGNC:10597 +HGNC:10596 SCN8A sodium voltage-gated channel alpha subunit 8 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "Nav1.6|NaCh6|PN4|CerIII|CIAT" MED "sodium channel, voltage gated, type VIII, alpha polypeptide|sodium channel, voltage gated, type VIII, alpha subunit|sodium channel, voltage gated, type VIII alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1995-08-23 2016-02-05 2023-01-20 6334 ENSG00000196876 OTTHUMG00000169490 uc001ryw.4 AB027567 NM_014191 "CCDS81692|CCDS44891|CCDS53794|CCDS91697" Q9UQD0 "7670495|9828131|16382098" MGI:103169 RGD:3638 LRG_1389|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1389.xml 600702 293928 objectId:583 HGNC:10596 "ENST00000627620.5|NM_001330260.2" HGNC:10596 +HGNC:10597 SCN9A sodium voltage-gated channel alpha subunit 9 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "Nav1.7|PN1|NE-NA|NENA|ETHA" "sodium channel, voltage-gated, type IX, alpha polypeptide|sodium channel, voltage-gated, type IX, alpha subunit|sodium channel, voltage gated, type IX alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1996-04-12 2016-02-05 2023-01-20 6335 ENSG00000169432 OTTHUMG00000154044 uc002udr.2 X82835 NM_002977 "CCDS46441|CCDS92892" Q15858 "7720699|10198179|16382098" MGI:107636 RGD:69368 LRG_369|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_369.xml 603415 118525 objectId:584 HGNC:10597 "ENST00000642356.2|NM_001365536.1" HGNC:10597 HGNC:10582 SCN10A sodium voltage-gated channel alpha subunit 10 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "Nav1.8|hPN3|SNS|PN3" "sensory neuron sodium channel|peripheral nerve sodium channel 3" "sodium channel, voltage-gated, type X, alpha polypeptide|sodium channel, voltage-gated, type X, alpha subunit|sodium channel, voltage gated, type X alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1996-04-12 2016-02-05 2023-01-20 6336 ENSG00000185313 OTTHUMG00000048245 uc003ciq.4 AF117907 NM_006514 "CCDS87064|CCDS33736" Q9Y5Y9 "9839820|10198179|16382098" MGI:108029 RGD:3629 604427 325976 objectId:585 HGNC:10582 "ENST00000449082.3|NM_006514.4" HGNC:10582 HGNC:10583 SCN11A sodium voltage-gated channel alpha subunit 11 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "Nav1.9|NaN|SNS-2" SCN12A "sodium channel, voltage-gated, type XI, alpha polypeptide|sodium channel, voltage-gated, type XII, alpha|sodium channel, voltage-gated, type XI, alpha subunit|sodium channel, voltage gated, type XI alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1998-11-06 2016-02-05 2023-01-20 11280 ENSG00000168356 OTTHUMG00000048246 uc062ihs.1 AF126739 NM_014139 CCDS33737 Q9UI33 "10444332|16382098" MGI:1345149 RGD:3630 604385 328924 objectId:586 HGNC:10583 "ENST00000302328.9|NM_001349253.2" HGNC:10583 HGNC:23136 SCNM1 sodium channel modifier 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MGC3180 2003-09-16 2023-03-15 79005 ENSG00000163156 OTTHUMG00000012258 uc001ewz.4 BC000264 NM_024041 CCDS987 Q9BWG6 12920299 MGI:1341284 608095 HGNC:23136 "ENST00000368905.9|NM_024041.4" @@ -34665,18 +34668,18 @@ HGNC:10601 SCNN1D sodium channel epithelial 1 subunit delta protein-coding gene HGNC:10602 SCNN1G sodium channel epithelial 1 subunit gamma protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "ENaCgamma|SCNEG" amiloride-sensitive sodium channel subunit gamma sodium channel, non voltage gated 1 gamma subunit Sodium channels epithelial 185 1995-05-10 2019-11-26 2023-01-20 6340 ENSG00000166828 OTTHUMG00000131609 uc002dlm.2 U48937 NM_001039 CCDS10608 P51170 "7490094|26772908" MGI:104695 RGD:3641 LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SCNN1G 600761 118539 objectId:741 HGNC:10602 "ENST00000300061.3|NM_001039.4" HGNC:10602 HGNC:10603 SCO1 synthesis of cytochrome C oxidase 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 SCOD1 "SCO (cytochrome oxidase deficient, yeast) homolog 1|SCO cytochrome oxidase deficient homolog 1 (yeast)|SCO1, cytochrome c oxidase assembly protein|SCO cytochrome c oxidase assembly protein 1" Mitochondrial respiratory chain complex assembly factors 645 1998-07-03 2019-10-03 2023-01-20 6341 ENSG00000133028 OTTHUMG00000130364 uc002gmr.5 AF026852 NM_004589 CCDS11158 O75880 9878253 MGI:106362 RGD:1559538 603644 118543 HGNC:10603 "ENST00000255390.10|NM_004589.4" HGNC:10603 HGNC:10604 SCO2 synthesis of cytochrome C oxidase 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 SCO1L MYP6 "SCO (cytochrome oxidase deficient, yeast) homolog 2|SCO cytochrome oxidase deficient homolog 2 (yeast)|myopia 6|SCO2, cytochrome c oxidase assembly protein|SCO cytochrome c oxidase assembly protein 2" Mitochondrial respiratory chain complex assembly factors 645 1999-10-12 2019-10-03 2023-01-20 9997 ENSG00000284194 OTTHUMG00000191637 uc021wsa.2 AL021683 NM_005138 CCDS14095 O43819 "10218584|16091356|23643385" MGI:3818630 604272 118546 HGNC:10604 "ENST00000395693.8|NM_005138.3" HGNC:10604 -HGNC:20335 SCOC short coiled-coil protein protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "HRIHFB2072|SCOCO|UNC-69" short coiled coil protein 2003-01-24 2003-03-19 2023-01-20 60592 ENSG00000153130 OTTHUMG00000133416 uc003iib.2 AK027797 NM_001153446 "CCDS54806|CCDS3750|CCDS54807" Q9UIL1 11303027 MGI:1927654 RGD:1311860 HGNC:20335 "ENST00000608372.6|NM_001153484.2" +HGNC:20335 SCOC short coiled-coil protein protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "HRIHFB2072|SCOCO|UNC-69" short coiled coil protein 2003-01-24 2003-03-19 2023-01-20 60592 ENSG00000153130 OTTHUMG00000133416 uc003iib.2 AK027797 NM_001153446 "CCDS3750|CCDS54807|CCDS54806" Q9UIL1 11303027 MGI:1927654 RGD:1311860 HGNC:20335 "ENST00000608372.6|NM_001153484.2" HGNC:50601 SCOC-AS1 SCOC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.1 04q31.1 Antisense RNAs 1987 2014-05-22 2014-05-22 100129858 ENSG00000196951 OTTHUMG00000161377 NR_033939 SCOC-AS1 HGNC:50601 HGNC:20339 SCOCP1 short coiled-coil protein pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 short coiled coil protein pseudogene 1 2003-01-24 2003-03-19 2014-11-19 317767 ENSG00000258896 OTTHUMG00000171125 NG_011824 PGOHUM00000248193 HGNC:20339 -HGNC:10606 SCP2 sterol carrier protein 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 MicroRNA protein coding host genes 1691 1991-07-24 2023-01-20 6342 ENSG00000116171 OTTHUMG00000008936 uc001cur.3 M75884 NM_002979 "CCDS44150|CCDS41338|CCDS30719|CCDS81325|CCDS53318|CCDS44149|CCDS572|CCDS53319|CCDS53317" P22307 "1703300|1718316" MGI:98254 RGD:3642 184755 165921 HGNC:10606 "ENST00000371514.8|NM_002979.5" HGNC:10606 +HGNC:10606 SCP2 sterol carrier protein 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 MicroRNA protein coding host genes 1691 1991-07-24 2023-01-20 6342 ENSG00000116171 OTTHUMG00000008936 uc001cur.3 M75884 NM_002979 "CCDS53318|CCDS53319|CCDS572|CCDS41338|CCDS53317|CCDS44149|CCDS81325|CCDS30719|CCDS44150" P22307 "1703300|1718316" MGI:98254 RGD:3642 184755 165921 HGNC:10606 "ENST00000371514.8|NM_002979.5" HGNC:10606 HGNC:16211 SCP2D1 SCP2 sterol binding domain containing 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "dJ1068E13.2|HSD22" sterol carrier protein 2-like protein C20orf79 "chromosome 20 open reading frame 79|SCP2 sterol-binding domain containing 1" 2001-07-17 2012-10-29 2016-04-06 2023-01-20 140856 ENSG00000132631 OTTHUMG00000031983 uc002wrk.4 AL035563 NM_178483 CCDS13139 Q9UJQ7 16501878 MGI:1913578 RGD:1308385 HGNC:16211 "ENST00000377428.4|NM_178483.3" HGNC:16210 SCP2D1-AS1 SCP2D1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 dJ1068E13.1 C20orf78 chromosome 20 open reading frame 78 Antisense RNAs 1987 2001-07-17 2019-10-04 2019-10-04 2023-03-15 100128496 ENSG00000149443 OTTHUMG00000031982 uc061vrb.1 AL035563 NR_161342 Q9BR46 11780052 HGNC:16210 HGNC:29507 SCPEP1 serine carboxypeptidase 1 protein-coding gene gene with protein product Approved 17q22 17q22 RISC retinoid inducible serine carboxypeptidase M14 carboxypeptidases 1321 2004-04-02 2023-01-20 59342 ENSG00000121064 OTTHUMG00000178129 uc002iuv.5 AF282618 NM_021626 CCDS11593 Q9HB40 "11447226|12975309" MGI:1921867 RGD:620067 619723 S10.013 objectId:1585 HGNC:29507 "ENST00000262288.8|NM_021626.3" HGNC:17036 SCRG1 stimulator of chondrogenesis 1 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 "SCRG-1|lincSCRG1" scrapie responsive gene 1 2009-06-04 2023-01-20 11341 ENSG00000164106 OTTHUMG00000161249 uc003ite.4 AJ224677 NM_007281 CCDS3818 O75711 "9660755|9516475" MGI:1328308 RGD:68377 603163 HGNC:17036 "ENST00000296506.8|NM_007281.4" -HGNC:30377 SCRIB scribble planar cell polarity protein protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KIAA0147|SCRB1|Vartul" scribbled homolog (Drosophila) "PDZ domain containing|Scribble complex|MicroRNA protein coding host genes" "1220|1224|1691" 2004-05-21 2019-01-09 2023-01-20 23513 ENSG00000180900 OTTHUMG00000165154 uc003yzo.1 AY062238 NM_015356 "CCDS6412|CCDS6411" "C0HLS1|Q14160" "11027293|14681682" MGI:2145950 RGD:1565055 607733 471034 HGNC:30377 "ENST00000356994.7|NM_182706.5" HGNC:30377 -HGNC:22192 SCRN1 secernin 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 KIAA0193 2004-02-16 2023-01-20 9805 ENSG00000136193 OTTHUMG00000097093 uc011jzz.3 D83777 NM_014766 "CCDS5422|CCDS47567|CCDS47568" Q12765 12221138 MGI:1917188 RGD:1560999 614965 C69.003 HGNC:22192 "ENST00000242059.10|NM_014766.5" +HGNC:30377 SCRIB scribble planar cell polarity protein protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KIAA0147|SCRB1|Vartul" scribbled homolog (Drosophila) "PDZ domain containing|Scribble complex|MicroRNA protein coding host genes" "1220|1224|1691" 2004-05-21 2019-01-09 2023-01-20 23513 ENSG00000180900 OTTHUMG00000165154 uc003yzo.1 AY062238 NM_015356 "CCDS6411|CCDS6412" "C0HLS1|Q14160" "11027293|14681682" MGI:2145950 RGD:1565055 607733 471034 HGNC:30377 "ENST00000356994.7|NM_182706.5" HGNC:30377 +HGNC:22192 SCRN1 secernin 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 KIAA0193 2004-02-16 2023-01-20 9805 ENSG00000136193 OTTHUMG00000097093 uc011jzz.3 D83777 NM_014766 "CCDS5422|CCDS47568|CCDS47567" Q12765 12221138 MGI:1917188 RGD:1560999 614965 C69.003 HGNC:22192 "ENST00000242059.10|NM_014766.5" HGNC:30381 SCRN2 secernin 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 2004-02-16 2023-01-20 90507 ENSG00000141295 OTTHUMG00000178290 uc002imd.4 BC002980 NM_138355 "CCDS11519|CCDS45723" Q96FV2 12221138 MGI:1343092 RGD:1307741 614966 C69.004 HGNC:30381 "ENST00000290216.14|NM_138355.4" -HGNC:30382 SCRN3 secernin 3 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 FLJ23142 2004-02-16 2023-01-20 79634 ENSG00000144306 OTTHUMG00000132332 uc002uiq.4 AF279776 NM_024583 "CCDS54420|CCDS2258" Q0VDG4 12221138 MGI:1921866 RGD:1305064 614967 C69.005 HGNC:30382 "ENST00000272732.11|NM_024583.5" +HGNC:30382 SCRN3 secernin 3 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 FLJ23142 2004-02-16 2023-01-20 79634 ENSG00000144306 OTTHUMG00000132332 uc002uiq.4 AF279776 NM_024583 "CCDS2258|CCDS54420" Q0VDG4 12221138 MGI:1921866 RGD:1305064 614967 C69.005 HGNC:30382 "ENST00000272732.11|NM_024583.5" HGNC:15950 SCRT1 scratch family transcriptional repressor 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "DKFZp547F072|ZNF898" "scratch (drosophila homolog) 1, zinc finger protein|scratch homolog 1, zinc finger protein (Drosophila)" "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 2001-06-21 2016-05-04 2023-01-20 83482 ENSG00000261678 OTTHUMG00000165229 uc033ccm.1 BC014675 NM_031309 CCDS6421 Q9BWW7 11274425 MGI:2176606 RGD:1306236 605858 HGNC:15950 "ENST00000569446.3|NM_031309.6" HGNC:15952 SCRT2 scratch family transcriptional repressor 2 protein-coding gene gene with protein product Approved 20p13 20p13 ZNF898B "scratch (drosophila homolog) 2, zinc finger protein|scratch homolog 2, zinc finger protein (Drosophila)" "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 2001-06-21 2016-05-04 2023-01-20 85508 ENSG00000215397 OTTHUMG00000130829 uc002wec.3 NM_033129 CCDS13006 Q9NQ03 11274425 MGI:2139287 RGD:1564796 HGNC:15952 "ENST00000246104.7|NM_033129.4" HGNC:10607 SCT secretin protein-coding gene gene with protein product Approved 11p15.5 11p15.5 prepro-secretin Neuropeptides 1902 1994-01-27 2023-01-20 6343 ENSG00000070031 OTTHUMG00000133313 uc001lqo.2 AF244355 NM_021920 CCDS7709 P09683 2315322 MGI:99466 RGD:3643 182099 ligandId:3643 HGNC:10607 "ENST00000176195.4|NM_021920.4" @@ -34685,7 +34688,7 @@ HGNC:40516 SCTR-AS1 SCTR antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:13441 SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 signal peptide, CUB domain, EGF-like 1 2002-02-13 2016-01-21 2023-01-20 80274 ENSG00000159307 OTTHUMG00000150679 uc003bdt.3 NM_173050 CCDS14048 Q8IWY4 11087664 MGI:1890616 RGD:1309015 611746 HGNC:13441 "ENST00000360835.9|NM_173050.5" HGNC:40635 SCUBE1-AS1 SCUBE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Antisense RNAs 1987 2020-03-19 2020-03-19 101927447 ENSG00000203527 OTTHUMG00000150677 NR_134582 HGNC:40633 SCUBE1-AS2 SCUBE1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Antisense RNAs 1987 2020-03-19 2020-03-19 105373051 ENSG00000236272 OTTHUMG00000150678 NR_134632 -HGNC:30425 SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "Cegf1|Cegb1|FLJ16792" signal peptide, CUB domain, EGF-like 2 MicroRNA protein coding host genes 1691 2004-05-19 2016-01-21 2023-01-20 57758 ENSG00000175356 OTTHUMG00000163880 uc001mhi.3 AK131552 NM_020974 "CCDS53599|CCDS7797|CCDS91436|CCDS81553" Q9NQ36 "12270931|11528127" MGI:1928765 RGD:1563998 611747 HGNC:30425 "ENST00000649792.2|NM_001367977.2" +HGNC:30425 SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "Cegf1|Cegb1|FLJ16792" signal peptide, CUB domain, EGF-like 2 MicroRNA protein coding host genes 1691 2004-05-19 2016-01-21 2023-01-20 57758 ENSG00000175356 OTTHUMG00000163880 uc001mhi.3 AK131552 NM_020974 "CCDS7797|CCDS91436|CCDS81553|CCDS53599" Q9NQ36 "12270931|11528127" MGI:1928765 RGD:1563998 611747 HGNC:30425 "ENST00000649792.2|NM_001367977.2" HGNC:13655 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 protein-coding gene gene with protein product Approved 6p21.3 06p21.3 FLJ34743 CEGF3 "CUB domain and EGF-like repeat containing 3|signal peptide, CUB domain, EGF-like 3" 2003-05-28 2004-05-21 2016-01-21 2023-01-20 222663 ENSG00000146197 OTTHUMG00000014562 uc003okf.2 AF452494.1 NM_152753 CCDS4800 Q8IX30 12270931 MGI:3045253 RGD:1304880 614708 HGNC:13655 "ENST00000274938.8|NM_152753.4" HGNC:13655 HGNC:56671 SCUBE3-AS1 SCUBE3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 Z97832.2 Antisense RNAs 1987 2022-12-21 2022-12-21 101929285 ENSG00000272374 XR_001744099 36384673 HGNC:32322 SCX scleraxis bHLH transcription factor protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "bHLHa48|bHLHa41" "SCXA|SCXB" "scleraxis homolog A (mouse)|scleraxis homolog B (mouse)|scleraxis homolog (mouse)|scleraxis basic helix-loop-helix transcription factor" Basic helix-loop-helix proteins 420 2005-10-05 2014-06-19 2015-06-16 2023-01-20 642658 ENSG00000260428 OTTHUMG00000175582 NM_001080514 CCDS43779 Q7RTU7 19362560 MGI:102934 RGD:1588254 609067 HGNC:32322 "ENST00000567180.3|NM_001080514.3" @@ -34699,11 +34702,11 @@ HGNC:34226 SCYGR7 small cysteine and glycine repeat containing 7 protein-coding HGNC:34227 SCYGR8 small cysteine and glycine repeat containing 8 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KRTAP28-8 keratin associated protein 28-8 2018-04-20 2018-04-25 112441432 ENSG00000284635 NM_001395409 A0A286YFG1 18721477 "ENST00000641981.2|NM_001395409.1" HGNC:34219 SCYGR9 small cysteine and glycine repeat containing 9 (gene/pseudogene) protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "KRTAP28p1|KRTAP28-9" "keratin associated protein 28-9|keratin associated protein 28 family pseudogene 1" 2018-04-20 2020-03-24 117134595 ENSG00000285843 NG_075677 P0DSO2 18721477 HGNC:34221 SCYGR10 small cysteine and glycine repeat containing 10 (gene/pseudogene) protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "KRTAP28p2|KRTAP28-10" "keratin associated protein 28-910|keratin associated protein 28 family pseudogene 2" 2018-04-20 2018-04-25 112441436 ENSG00000284622 NR_173327 A0A286YEX9 18721477 -HGNC:14372 SCYL1 SCY1 like pseudokinase 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HT019|P105|GKLP|NKTL|TAPK|TRAP|TEIF|MGC78454" "teratoma-associated tyrosine kinase|telomerase transcriptional elements-interacting factor|telomerase regulation-associated protein" NTKL "N-terminal kinase-like|SCY1-like 1 (S. cerevisiae)|SCY1-like, kinase-like 1" "SCY1 like pseudokinases|Armadillo like helical domain containing" "1033|1492" 2001-01-16 2002-11-29 2016-02-26 2023-01-20 57410 ENSG00000142186 OTTHUMG00000166325 uc001oea.2 AF225424 NM_020680 "CCDS91507|CCDS41672|CCDS44646" Q96KG9 11118629 MGI:1931787 RGD:1307330 607982 471036 objectId:2195 HGNC:14372 "ENST00000270176.10|NM_020680.4" HGNC:14372 +HGNC:14372 SCYL1 SCY1 like pseudokinase 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HT019|P105|GKLP|NKTL|TAPK|TRAP|TEIF|MGC78454" "teratoma-associated tyrosine kinase|telomerase transcriptional elements-interacting factor|telomerase regulation-associated protein" NTKL "N-terminal kinase-like|SCY1-like 1 (S. cerevisiae)|SCY1-like, kinase-like 1" "SCY1 like pseudokinases|Armadillo like helical domain containing" "1033|1492" 2001-01-16 2002-11-29 2016-02-26 2023-01-20 57410 ENSG00000142186 OTTHUMG00000166325 uc001oea.2 AF225424 NM_020680 "CCDS41672|CCDS44646|CCDS91507" Q96KG9 11118629 MGI:1931787 RGD:1307330 607982 471036 objectId:2195 HGNC:14372 "ENST00000270176.10|NM_020680.4" HGNC:14372 HGNC:19286 SCYL2 SCY1 like pseudokinase 2 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "KIAA1360|CVAK104" coated vesicle-associated kinase of 104 kDa "SCY1-like 2 (S. cerevisiae)|SCY1-like, kinase-like 2" "SCY1 like pseudokinases|Armadillo like helical domain containing" "1033|1492" 2005-01-20 2016-02-26 2023-01-20 55681 ENSG00000136021 OTTHUMG00000170319 uc001thn.4 AB037781 NM_017988 "CCDS9076|CCDS81726" Q6P3W7 "10718198|15809293|17587408" MGI:1289172 RGD:1305665 616365 objectId:2196 HGNC:19286 "ENST00000360820.7|NM_017988.6" HGNC:19286 HGNC:54685 SCYL2P1 SCYL2 pseudogene 1 pseudogene pseudogene Approved 2q33.1 02q33.1 2019-11-28 2019-11-28 100420110 ENSG00000213090 NG_023651 -HGNC:19285 SCYL3 SCY1 like pseudokinase 3 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "PACE-1|PACE1" ezrin-binding partner PACE-1 "SCY1-like 3 (S. cerevisiae)|SCY1-like, kinase-like 3" SCY1 like pseudokinases 1033 2005-03-01 2016-02-26 2023-01-20 57147 ENSG00000000457 OTTHUMG00000035941 uc001ggs.5 BC014662 NM_181093 "CCDS1286|CCDS1287" Q8IZE3 12651155 MGI:1921385 RGD:1308992 608192 HGNC:19285 "ENST00000367771.11|NM_020423.7" -HGNC:25537 SDAD1 SDA1 domain containing 1 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 FLJ10498 Armadillo like helical domain containing 1492 2004-04-05 2023-01-20 55153 ENSG00000198301 OTTHUMG00000130111 uc003hje.6 AF132198 NM_018115 "CCDS75147|CCDS3573" Q9NVU7 11483580 MGI:2140779 RGD:1359112 HGNC:25537 "ENST00000356260.10|NM_018115.4" +HGNC:19285 SCYL3 SCY1 like pseudokinase 3 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "PACE-1|PACE1" ezrin-binding partner PACE-1 "SCY1-like 3 (S. cerevisiae)|SCY1-like, kinase-like 3" SCY1 like pseudokinases 1033 2005-03-01 2016-02-26 2023-01-20 57147 ENSG00000000457 OTTHUMG00000035941 uc001ggs.5 BC014662 NM_181093 "CCDS1287|CCDS1286" Q8IZE3 12651155 MGI:1921385 RGD:1308992 608192 HGNC:19285 "ENST00000367771.11|NM_020423.7" +HGNC:25537 SDAD1 SDA1 domain containing 1 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 FLJ10498 Armadillo like helical domain containing 1492 2004-04-05 2023-01-20 55153 ENSG00000198301 OTTHUMG00000130111 uc003hje.6 AF132198 NM_018115 "CCDS3573|CCDS75147" Q9NVU7 11483580 MGI:2140779 RGD:1359112 HGNC:25537 "ENST00000356260.10|NM_018115.4" HGNC:41106 SDAD1-AS1 SDAD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.1 04q21.1 Antisense RNAs 1987 2020-03-19 2020-03-19 101928809 ENSG00000245928 OTTHUMG00000160886 NR_125906 HGNC:31403 SDAD1P1 SDA1 domain containing 1 pseudogene 1 pseudogene pseudogene Approved 8p21.2 08p21.2 2004-04-05 2010-11-24 157489 ENSG00000228451 OTTHUMG00000163945 NG_006994 PGOHUM00000250004 HGNC:31403 HGNC:31404 SDAD1P2 SDA1 domain containing 1 pseudogene 2 pseudogene pseudogene Approved 20p12.2 20p12.2 2004-04-05 2020-04-20 400836 ENSG00000230750 OTTHUMG00000031870 NG_021986 PGOHUM00000247591 HGNC:31404 @@ -34714,7 +34717,7 @@ HGNC:10659 SDC2 syndecan 2 protein-coding gene gene with protein product Approve HGNC:10660 SDC3 syndecan 3 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "N-syndecan|SYND3" syndecan proteoglycan 3 syndecan 3 (N-syndecan) Syndecans 571 1994-05-16 2007-02-15 2023-01-20 9672 ENSG00000162512 OTTHUMG00000043646 uc001bse.3 AF248634 NM_014654 CCDS30661 O75056 "1556152|11527150" MGI:1349163 RGD:621486 186357 HGNC:10660 "ENST00000339394.7|NM_014654.4" HGNC:10661 SDC4 syndecan 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "SYND4|amphiglycan|ryudocan" syndecan proteoglycan 4 syndecan 4 (amphiglycan, ryudocan) Syndecans 571 1994-05-17 2007-02-15 2023-01-20 6385 ENSG00000124145 OTTHUMG00000033083 uc002xnu.4 "X67016|D13292" NM_002999 CCDS13350 P31431 "7916598|1500433" MGI:1349164 RGD:3650 SDC4 600017 HGNC:10661 "ENST00000372733.3|NM_002999.4" HGNC:18903 SDC4P syndecan 4 pseudogene pseudogene pseudogene Approved 22q12.2 22q12.2 2002-07-22 2014-11-19 376844 ENSG00000214161 OTTHUMG00000151266 AF520746 NR_001580 12652906 HGNC:18903 -HGNC:10662 SDCBP syndecan binding protein protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "SYCL|MDA-9" "syntenin|syntenin-1" PDZ domain containing 1220 1998-02-11 2015-11-09 2023-01-20 6386 ENSG00000137575 OTTHUMG00000164303 uc003xtn.3 AF000652 NM_005625 "CCDS83298|CCDS47863|CCDS6172|CCDS87610|CCDS47862" O00560 9391086 MGI:1337026 RGD:621497 602217 HGNC:10662 "ENST00000260130.9|NM_005625.4" +HGNC:10662 SDCBP syndecan binding protein protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "SYCL|MDA-9" "syntenin|syntenin-1" PDZ domain containing 1220 1998-02-11 2015-11-09 2023-01-20 6386 ENSG00000137575 OTTHUMG00000164303 uc003xtn.3 AF000652 NM_005625 "CCDS87610|CCDS6172|CCDS47862|CCDS83298|CCDS47863" O00560 9391086 MGI:1337026 RGD:621497 602217 HGNC:10662 "ENST00000260130.9|NM_005625.4" HGNC:15756 SDCBP2 syndecan binding protein 2 protein-coding gene gene with protein product Approved 20p13 20p13 "ST-2|SITAC18" syntenin-2 syndecan binding protein (syntenin) 2 PDZ domain containing 1220 2001-09-17 2015-12-16 2023-01-20 27111 ENSG00000125775 OTTHUMG00000031661 uc002wev.5 AF131809 NM_080489 "CCDS42848|CCDS13013" Q9H190 11152476 MGI:2385156 RGD:1307709 617358 HGNC:15756 "ENST00000360779.4|NM_080489.5" HGNC:44314 SDCBP2-AS1 SDCBP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 SDCBP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-09 2012-08-15 2021-07-21 100507495 ENSG00000234684 OTTHUMG00000031671 uc002wex.4 "BC034773|DA094549|DA274215|DB454162" NR_040047 34218800 SDCBP2-AS1 HGNC:44314 HGNC:44685 SDCBP2P1 syndecan binding protein 2 pseudogene 1 pseudogene pseudogene Approved 6q13 06q13 syndecan binding protein (syntenin) 2 pseudogene 1 2012-12-04 2016-06-27 2016-06-27 106480801 ENSG00000223389 OTTHUMG00000015027 NG_044176 PGOHUM00000301851 HGNC:44685 @@ -34726,7 +34729,7 @@ HGNC:26643 SDE2 SDE2 telomere maintenance homolog protein-coding gene gene with HGNC:10675 SDF2 stromal cell derived factor 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 stromal cell-derived factor 2 1997-09-12 2016-01-18 2023-01-20 6388 ENSG00000132581 OTTHUMG00000132681 uc002hbw.4 BC001406 NM_006923 CCDS11238 Q99470 8918255 MGI:108019 RGD:1307274 602934 HGNC:10675 "ENST00000247020.9|NM_006923.4" HGNC:10676 SDF2L1 stromal cell derived factor 2 like 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "AP000553.C22.4|OTTHUMT00000075032" "dihydropyrimidinase-like 2|PWP1-interacting protein 8" stromal cell-derived factor 2-like 1 1999-10-29 2016-01-18 2023-01-20 23753 ENSG00000128228 OTTHUMG00000150820 uc002zvf.4 NM_022044 CCDS13792 Q9HCN8 "10591208|11162531|31624144" MGI:2149842 RGD:1585844 607551 HGNC:10676 "ENST00000248958.5|NM_022044.3" HGNC:24188 SDF4 stromal cell derived factor 4 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 Cab45 calcium binding protein CREC family 2042 2005-05-24 2023-01-20 51150 ENSG00000078808 OTTHUMG00000001812 uc001adi.5 NM_016176 "CCDS12|CCDS30553" Q9BRK5 "9254016|8609160" MGI:108079 RGD:621521 614282 HGNC:24188 "ENST00000360001.12|NM_016176.6" -HGNC:10680 SDHA succinate dehydrogenase complex flavoprotein subunit A protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FP|SDHF" "succinate dehydrogenase [ubiquinone] flavoprotein subunit|flavoprotein subunit of complex II" SDH2 "succinate dehydrogenase complex, subunit A, flavoprotein (Fp)|succinate dehydrogenase complex subunit A, flavoprotein (Fp)" Mitochondrial complex II: succinate dehydrogenase subunits 641 1995-10-24 2016-01-28 2023-01-20 6389 ENSG00000073578 OTTHUMG00000090275 uc003jao.5 BC001380 NM_004168 "CCDS77992|CCDS3853|CCDS82985" P31040 7798181 MGI:1914195 RGD:621557 "SDHA @ LOVD|http://www.LOVD.nl/SDHA|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHA|LRG_315|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_315.xml" SDHA 600857 118549 HGNC:10680 "ENST00000264932.11|NM_004168.4" HGNC:10680 +HGNC:10680 SDHA succinate dehydrogenase complex flavoprotein subunit A protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FP|SDHF" "succinate dehydrogenase [ubiquinone] flavoprotein subunit|flavoprotein subunit of complex II" SDH2 "succinate dehydrogenase complex, subunit A, flavoprotein (Fp)|succinate dehydrogenase complex subunit A, flavoprotein (Fp)" Mitochondrial complex II: succinate dehydrogenase subunits 641 1995-10-24 2016-01-28 2023-01-20 6389 ENSG00000073578 OTTHUMG00000090275 uc003jao.5 BC001380 NM_004168 "CCDS3853|CCDS77992|CCDS82985" P31040 7798181 MGI:1914195 RGD:621557 "SDHA @ LOVD|http://www.LOVD.nl/SDHA|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHA|LRG_315|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_315.xml" SDHA 600857 118549 HGNC:10680 "ENST00000264932.11|NM_004168.4" HGNC:10680 HGNC:33867 SDHAF1 succinate dehydrogenase complex assembly factor 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 LYRM8 LYR motif containing 8 "LYR motif containing|Mitochondrial respiratory chain complex assembly factors" "635|645" 2009-05-27 2023-01-20 644096 ENSG00000205138 OTTHUMG00000181745 uc002ocp.4 NM_001042631 CCDS32999 A6NFY7 19465911 MGI:1915582 RGD:1562079 612848 201507 HGNC:33867 "ENST00000378887.4|NM_001042631.3" HGNC:33867 HGNC:26034 SDHAF2 succinate dehydrogenase complex assembly factor 2 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "FLJ20487|SDH5" "PGL2|C11orf79" "paraganglioma or familial glomus tumors 2|chromosome 11 open reading frame 79" Mitochondrial respiratory chain complex assembly factors 645 2007-02-02 2009-08-10 2009-08-10 2023-01-20 54949 ENSG00000167985 OTTHUMG00000168279 uc001nrt.4 AK000494 NM_017841 CCDS8007 Q9NX18 19628817 MGI:1913322 RGD:1309216 LRG_519|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_519.xml SDHAF2 613019 209279 HGNC:26034 "ENST00000301761.7|NM_017841.4" HGNC:26034 HGNC:21752 SDHAF3 succinate dehydrogenase complex assembly factor 3 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "DC11|Sdh7|LYRM10" ACN9 ACN9 homolog (S. cerevisiae) "LYR motif containing|Mitochondrial respiratory chain complex assembly factors" "635|645" 2003-07-23 2015-02-27 2015-02-27 2023-01-20 57001 ENSG00000196636 OTTHUMG00000154064 BC028409 NM_020186 CCDS5648 Q9NRP4 24954417 MGI:1913288 RGD:1305143 615773 HGNC:21752 "ENST00000432641.3|NM_020186.3" @@ -34737,12 +34740,12 @@ HGNC:18781 SDHAP3 SDHA pseudogene 3 pseudogene pseudogene Approved 5p15.33 05p15 HGNC:55782 SDHAP4 SDHA pseudogene 4 pseudogene pseudogene Approved 3q29 03q29 2021-07-23 2021-07-23 220729 ENSG00000214135 NR_003266 HGNC:10681 SDHB succinate dehydrogenase complex iron sulfur subunit B protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "iron-sulfur subunit of complex II|succinate dehydrogenase [ubiquinone] iron-sulfur subunit" "SDH1|SDH" "succinate dehydrogenase complex, subunit B, iron sulfur (Ip)|succinate dehydrogenase complex subunit B, iron sulfur (Ip)" Mitochondrial complex II: succinate dehydrogenase subunits 641 2001-06-22 2016-01-28 2023-01-20 6390 ENSG00000117118 OTTHUMG00000002289 uc001bae.5 U17248 NM_003000 CCDS176 P21912 MGI:1914930 RGD:1308598 "SDHB @ LOVD|http://www.LOVD.nl/SDHB|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHB|LRG_316|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_316.xml" SDHB 185470 118554 1.3.99.1 HGNC:10681 "ENST00000375499.8|NM_003000.3" HGNC:10681 HGNC:56538 SDHBP1 SDHB pseudogene 1 pseudogene pseudogene Approved 3q22.2 03q22.2 2022-10-31 2022-10-31 127460886 ENSG00000242222 NG_148545 PGOHUM00000299603 -HGNC:10682 SDHC succinate dehydrogenase complex subunit C protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CYB560|cybL" "succinate dehydrogenase cytochrome b560 subunit|succinate dehydrgenase cytochrome b|large subunit of cytochrome b" PGL3 "succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD|succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa" Mitochondrial complex II: succinate dehydrogenase subunits 641 1997-10-21 2015-11-09 2023-01-20 6391 ENSG00000143252 OTTHUMG00000034468 uc001gag.4 D49737 NM_003001 "CCDS60330|CCDS1230|CCDS44263|CCDS41432|CCDS41431" Q99643 "9533030|12658451" MGI:1913302 RGD:1359454 "SDHC @ LOVD|http://www.LOVD.nl/SDHC|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHC|LRG_317|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_317.xml" SDHC 602413 118558 HGNC:10682 "ENST00000367975.7|NM_003001.5" HGNC:10682 +HGNC:10682 SDHC succinate dehydrogenase complex subunit C protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CYB560|cybL" "succinate dehydrogenase cytochrome b560 subunit|succinate dehydrgenase cytochrome b|large subunit of cytochrome b" PGL3 "succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD|succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa" Mitochondrial complex II: succinate dehydrogenase subunits 641 1997-10-21 2015-11-09 2023-01-20 6391 ENSG00000143252 OTTHUMG00000034468 uc001gag.4 D49737 NM_003001 "CCDS60330|CCDS41432|CCDS41431|CCDS1230|CCDS44263" Q99643 "9533030|12658451" MGI:1913302 RGD:1359454 "SDHC @ LOVD|http://www.LOVD.nl/SDHC|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHC|LRG_317|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_317.xml" SDHC 602413 118558 HGNC:10682 "ENST00000367975.7|NM_003001.5" HGNC:10682 HGNC:31734 SDHCP1 succinate dehydrogenase complex subunit C pseudogene 1 pseudogene pseudogene Approved 18q22.1 18q22.1 succinate dehydrogenase complex, subunit C pseudogene 1 2010-06-17 2015-11-12 2017-10-26 100422600 ENSG00000264444 OTTHUMG00000178552 NG_026341 PGOHUM00000294817 HGNC:31734 HGNC:45177 SDHCP2 succinate dehydrogenase complex subunit C pseudogene 2 pseudogene pseudogene Approved 10q23.32 10q23.32 succinate dehydrogenase complex, subunit C pseudogene 2 2013-03-04 2015-11-12 2015-11-12 100128302 ENSG00000214549 OTTHUMG00000018753 NG_029201 PGOHUM00000238889 HGNC:45177 HGNC:45178 SDHCP3 succinate dehydrogenase complex subunit C pseudogene 3 pseudogene pseudogene Approved 2p23.3 02p23.3 succinate dehydrogenase complex, subunit C pseudogene 3 2013-03-04 2015-11-12 2015-11-12 100422591 ENSG00000234946 OTTHUMG00000151897 NG_023680 PGOHUM00000240597 HGNC:45178 HGNC:45179 SDHCP4 succinate dehydrogenase complex subunit C pseudogene 4 pseudogene pseudogene Approved 11p15.1 11p15.1 succinate dehydrogenase complex, subunit C pseudogene 4 2013-03-04 2015-11-12 2015-11-12 100422598 ENSG00000255035 OTTHUMG00000166317 NG_024319 PGOHUM00000242179 HGNC:45179 -HGNC:10683 SDHD succinate dehydrogenase complex subunit D protein-coding gene gene with protein product Approved 11q23.1 11q23.1 cybS small subunit of cytochrome b "PGL|PGL1" succinate dehydrogenase complex, subunit D, integral membrane protein Mitochondrial complex II: succinate dehydrogenase subunits 641 1997-10-21 2016-01-28 2023-01-20 6392 ENSG00000204370 OTTHUMG00000166997 uc001pmz.5 AB006202 NM_003002 "CCDS60960|CCDS31678|CCDS60959|CCDS60958" O14521 "9533030|1301144" MGI:1914175 RGD:735231 "SDHD @ LOVD|http://www.LOVD.nl/SDHD|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHD|LRG_9|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_9.xml" SDHD 602690 118561 HGNC:10683 "ENST00000375549.8|NM_003002.4" HGNC:10683 +HGNC:10683 SDHD succinate dehydrogenase complex subunit D protein-coding gene gene with protein product Approved 11q23.1 11q23.1 cybS small subunit of cytochrome b "PGL|PGL1" succinate dehydrogenase complex, subunit D, integral membrane protein Mitochondrial complex II: succinate dehydrogenase subunits 641 1997-10-21 2016-01-28 2023-01-20 6392 ENSG00000204370 OTTHUMG00000166997 uc001pmz.5 AB006202 NM_003002 "CCDS60959|CCDS60958|CCDS60960|CCDS31678" O14521 "9533030|1301144" MGI:1914175 RGD:735231 "SDHD @ LOVD|http://www.LOVD.nl/SDHD|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHD|LRG_9|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_9.xml" SDHD 602690 118561 HGNC:10683 "ENST00000375549.8|NM_003002.4" HGNC:10683 HGNC:10684 SDHDP1 succinate dehydrogenase complex subunit D pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 "succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 1|succinate dehydrogenase complex subunit D, integral membrane protein pseudogene 1" 2000-02-09 2016-01-28 2020-04-20 100289186 ENSG00000267162 OTTHUMG00000180685 NG_030063 10482792 PGOHUM00000234863 HGNC:10684 HGNC:10685 SDHDP2 succinate dehydrogenase complex subunit D pseudogene 2 pseudogene pseudogene Approved 7q33 07q33 "succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 2|succinate dehydrogenase complex subunit D, integral membrane protein pseudogene 2" 2000-02-09 2016-01-28 2016-10-05 647081 ENSG00000227073 OTTHUMG00000155494 NG_009407 10482792 PGOHUM00000233578 HGNC:10685 HGNC:10686 SDHDP3 succinate dehydrogenase complex subunit D pseudogene 3 pseudogene pseudogene Approved 3q26.2 03q26.2 "succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 3|succinate dehydrogenase complex subunit D, integral membrane protein pseudogene 3" 2000-02-09 2016-01-28 2020-04-06 29771 ENSG00000244381 OTTHUMG00000158630 NG_005647 10482792 PGOHUM00000299663 HGNC:10686 @@ -34769,18 +34772,18 @@ HGNC:10691 SDS serine dehydratase protein-coding gene gene with protein product HGNC:30404 SDSL serine dehydratase like protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "SDS-RS1|cSDH" serine dehydratase-like 2004-02-16 2016-03-11 2023-01-20 113675 ENSG00000139410 OTTHUMG00000169551 uc009zwh.4 AF134473 NM_138432 CCDS9170 Q96GA7 16580895 MGI:2182607 RGD:1309192 HGNC:30404 "ENST00000403593.9|NM_001304993.2" HGNC:32942 SEBOX SEBOX homeobox protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "OG9|OG9X" PRD class homeoboxes and pseudogenes 521 2007-07-26 2023-03-15 645832 ENSG00000274529 OTTHUMG00000171160 uc060cxq.1 NM_001080837 CCDS45634 Q9HB31 10922053 MGI:108012 RGD:62077 610975 8509 HGNC:32942 "ENST00000536498.6|NM_001080837.4" HGNC:44149 SEC1P secretory blood group 1, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 2012-06-30 2012-07-04 653677 ENSG00000232871 OTTHUMG00000154617 NR_004401 MGI:1928893 HGNC:44149 -HGNC:17718 SEC11A SEC11 homolog A, signal peptidase complex subunit protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "SPC18|sid2895|SPCS4A" signal peptidase complex 18 SEC11L1 "SEC11-like 1 (S. cerevisiae)|SEC11 homolog A (S. cerevisiae)" 2005-01-05 2006-11-07 2015-07-23 2023-01-20 23478 ENSG00000140612 OTTHUMG00000172489 uc002blb.3 AF061737 NM_014300 "CCDS45340|CCDS61742|CCDS61744|CCDS73776|CCDS61743" P67812 "2188978|23995782" MGI:1929464 RGD:69360 618258 S26.009 HGNC:17718 "ENST00000268220.12|NM_014300.4" +HGNC:17718 SEC11A SEC11 homolog A, signal peptidase complex subunit protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "SPC18|sid2895|SPCS4A" signal peptidase complex 18 SEC11L1 "SEC11-like 1 (S. cerevisiae)|SEC11 homolog A (S. cerevisiae)" 2005-01-05 2006-11-07 2015-07-23 2023-01-20 23478 ENSG00000140612 OTTHUMG00000172489 uc002blb.3 AF061737 NM_014300 "CCDS61743|CCDS61744|CCDS73776|CCDS45340|CCDS61742" P67812 "2188978|23995782" MGI:1929464 RGD:69360 618258 S26.009 HGNC:17718 "ENST00000268220.12|NM_014300.4" HGNC:31884 SEC11B SEC11 homolog B, signal peptidase complex subunit (pseudogene) pseudogene pseudogene Approved 8q11.23 08q11.23 SPCS4B SEC11L2 "SEC11-like 2 (S. cerevisiae)|SEC11 homolog B (S. cerevisiae)|SEC11 homolog B, pseudogene (S. cerevisiae)" 2005-01-05 2006-11-07 2016-01-06 2016-01-06 157708 ENSG00000226098 OTTHUMG00000164378 NG_008902 P0C7V7 PGOHUM00000262016 HGNC:31884 HGNC:23400 SEC11C SEC11 homolog C, signal peptidase complex subunit protein-coding gene gene with protein product Approved 18q21.32 18q21.32 "SPC21|SPCS4C" signal peptidase complex 21 SEC11L3 "SEC11-like 3 (S. cerevisiae)|SEC11 homolog C (S. cerevisiae)" 2005-01-05 2006-11-07 2015-07-23 2023-01-20 90701 ENSG00000166562 OTTHUMG00000132762 uc002lht.4 AF212233 NM_033280 "CCDS77193|CCDS11970" Q9BY50 "2188978|23995782" MGI:1913536 RGD:628665 HGNC:23400 "ENST00000587834.6|NM_033280.4" -HGNC:10697 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "SEC13R|npp-20" "D3S1231E|SEC13L1" "SEC13 (S. cerevisiae)-like 1|SEC13-like 1 (S. cerevisiae)|SEC13 homolog (S. cerevisiae)" "WD repeat domain containing|Nucleoporins|GATOR2 subcomplex|COPII coat complex" "362|1051|1395|1960" 1994-12-15 2006-11-07 2015-08-05 2023-03-15 6396 ENSG00000157020 OTTHUMG00000128671 uc003bvn.5 NM_001136026 "CCDS46751|CCDS2599|CCDS63540" P55735 "7987303|15146057|18692470" MGI:99832 RGD:1359555 600152 HGNC:10697 "ENST00000350697.8|NM_183352.3" +HGNC:10697 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "SEC13R|npp-20" "D3S1231E|SEC13L1" "SEC13 (S. cerevisiae)-like 1|SEC13-like 1 (S. cerevisiae)|SEC13 homolog (S. cerevisiae)" "WD repeat domain containing|Nucleoporins|GATOR2 subcomplex|COPII coat complex" "362|1051|1395|1960" 1994-12-15 2006-11-07 2015-08-05 2023-03-15 6396 ENSG00000157020 OTTHUMG00000128671 uc003bvn.5 NM_001136026 "CCDS2599|CCDS46751|CCDS63540" P55735 "7987303|15146057|18692470" MGI:99832 RGD:1359555 600152 HGNC:10697 "ENST00000350697.8|NM_183352.3" HGNC:44529 SEC13P1 SEC13 homolog, nuclear pore and COPII coat complex component pseudogene 1 pseudogene pseudogene Approved 3p22.3 03p22.3 SEC13 homolog (S. cerevisiae) pseudogene 1 2012-11-14 2015-08-05 2015-08-05 100131671 ENSG00000223899 OTTHUMG00000155780 NG_022244 PGOHUM00000237987 HGNC:44529 HGNC:10698 SEC14L1 SEC14 like lipid binding 1 protein-coding gene gene with protein product Approved 17q25.2-q25.3 17q25.2-q25.3 PRELID4A SEC14L "SEC14 (S. cerevisiae)-like 1|SEC14-like 1 (S. cerevisiae)|SEC14-like lipid binding 1" "SEC14 family|PRELI domain containing" "1063|1295" 1996-03-12 2016-01-18 2023-03-15 6397 ENSG00000129657 OTTHUMG00000177311 uc021udx.2 D67029 NM_003003 CCDS45789 Q92503 "8697811|17092608|17428729|23843640" MGI:1921386 RGD:1563123 601504 HGNC:10698 "ENST00000436233.9|NM_001143998.2" HGNC:44189 SEC14L1P1 SEC14 like 1 pseudogene 1 pseudogene pseudogene Approved 11p11.2 11p11.2 SEC14-like 1 pseudogene 1 2012-06-30 2016-01-18 2016-01-18 729799 ENSG00000213693 OTTHUMG00000166418 NR_026952 PGOHUM00000263379 HGNC:44189 -HGNC:10699 SEC14L2 SEC14 like lipid binding 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "TAP|SPF|KIAA1186|KIAA1658|TAP1" "supernatant protein factor|tocopherol-associated protein 1" C22orf6 "SEC14 (S. cerevisiae)-like 2|SEC14-like 2 (S. cerevisiae)|SEC14-like lipid binding 2" SEC14 family 1063 1999-10-12 2016-01-18 2023-01-20 23541 ENSG00000100003 OTTHUMG00000151024 uc032qlk.2 AL096881 NM_012429 "CCDS46685|CCDS56228|CCDS13876" O76054 "10829015|17428729|12757856" MGI:1915065 RGD:621779 607558 HGNC:10699 "ENST00000615189.5|NM_012429.5" -HGNC:18655 SEC14L3 SEC14 like lipid binding 3 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 TAP2 tocopherol-associated protein 2 "SEC14-like 3 (S. cerevisiae)|SEC14-like lipid binding 3" SEC14 family 1063 2002-09-18 2016-01-18 2023-01-20 266629 ENSG00000100012 OTTHUMG00000151259 uc003ahy.4 AY158086 NM_174975 "CCDS58800|CCDS13877|CCDS93145|CCDS58801" Q9UDX4 "12757856|15040456|17428729" MGI:3617848 RGD:620812 612824 HGNC:18655 "ENST00000215812.9|NM_174975.5" +HGNC:10699 SEC14L2 SEC14 like lipid binding 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "TAP|SPF|KIAA1186|KIAA1658|TAP1" "supernatant protein factor|tocopherol-associated protein 1" C22orf6 "SEC14 (S. cerevisiae)-like 2|SEC14-like 2 (S. cerevisiae)|SEC14-like lipid binding 2" SEC14 family 1063 1999-10-12 2016-01-18 2023-01-20 23541 ENSG00000100003 OTTHUMG00000151024 uc032qlk.2 AL096881 NM_012429 "CCDS56228|CCDS13876|CCDS46685" O76054 "10829015|17428729|12757856" MGI:1915065 RGD:621779 607558 HGNC:10699 "ENST00000615189.5|NM_012429.5" +HGNC:18655 SEC14L3 SEC14 like lipid binding 3 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 TAP2 tocopherol-associated protein 2 "SEC14-like 3 (S. cerevisiae)|SEC14-like lipid binding 3" SEC14 family 1063 2002-09-18 2016-01-18 2023-01-20 266629 ENSG00000100012 OTTHUMG00000151259 uc003ahy.4 AY158086 NM_174975 "CCDS58801|CCDS13877|CCDS93145|CCDS58800" Q9UDX4 "12757856|15040456|17428729" MGI:3617848 RGD:620812 612824 HGNC:18655 "ENST00000215812.9|NM_174975.5" HGNC:20627 SEC14L4 SEC14 like lipid binding 4 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "TAP3|dJ130H16.5" tocopherol-associated protein 3 "SEC14-like 4 (S. cerevisiae)|SEC14-like lipid binding 4" SEC14 family 1063 2003-03-10 2016-01-18 2023-01-20 284904 ENSG00000133488 OTTHUMG00000151258 uc003aid.4 AY158085 NM_174977 "CCDS13878|CCDS54517" Q9UDX3 "12757856|20012369" MGI:2144095 RGD:1565810 612825 HGNC:20627 "ENST00000255858.12|NM_174977.4" HGNC:29032 SEC14L5 SEC14 like lipid binding 5 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA0420|PRELID4B" "SEC14-like 5 (S. cerevisiae)|SEC14-like lipid binding 5" "SEC14 family|PRELI domain containing" "1063|1295" 2005-09-02 2016-01-18 2023-01-20 9717 ENSG00000103184 OTTHUMG00000176942 uc002cye.3 AB007880 NM_014692 CCDS45403 O43304 "9455477|17428729" MGI:3616084 RGD:1564638 619412 HGNC:29032 "ENST00000251170.12|NM_014692.2" -HGNC:40047 SEC14L6 SEC14 like lipid binding 6 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "SEC14-like 6 (S. cerevisiae)|SEC14-like 6|SEC14-like lipid binding 6" SEC14 family 1063 2011-05-06 2016-01-18 2023-01-20 730005 ENSG00000214491 OTTHUMG00000151267 uc021wnu.2 NM_001193336 "CCDS93146|CCDS93147|CCDS54518" B5MCN3 17428729 HGNC:40047 "ENST00000402034.7|NM_001193336.4" +HGNC:40047 SEC14L6 SEC14 like lipid binding 6 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "SEC14-like 6 (S. cerevisiae)|SEC14-like 6|SEC14-like lipid binding 6" SEC14 family 1063 2011-05-06 2016-01-18 2023-01-20 730005 ENSG00000214491 OTTHUMG00000151267 uc021wnu.2 NM_001193336 "CCDS93146|CCDS54518|CCDS93147" B5MCN3 17428729 HGNC:40047 "ENST00000402034.7|NM_001193336.4" HGNC:29006 SEC16A SEC16 homolog A, endoplasmic reticulum export factor protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "p250|Sec16L" KIAA0310 "KIAA0310|SEC16 homolog A (S. cerevisiae)" 2004-02-06 2007-06-20 2015-07-23 2023-01-20 9919 ENSG00000148396 OTTHUMG00000020932 uc064xcg.1 AK074565 NM_014866 "CCDS55351|CCDS75936" O15027 "17192411|21045114" MGI:2139207 RGD:2322350 612854 HGNC:29006 "ENST00000684901.1|NM_014866.2" HGNC:30301 SEC16B SEC16 homolog B, endoplasmic reticulum export factor protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "RGPR|PGPR-p117|Sec16S" regucalcin gene promotor region related protein LZTR2 "leucine zipper transcription regulator 2|SEC16 homolog B (S. cerevisiae)" 2005-07-06 2007-06-20 2015-07-23 2023-01-20 89866 ENSG00000120341 OTTHUMG00000167206 uc001gli.2 AK090411 NM_033127 "CCDS44281|CCDS86035" Q96JE7 "11605020|17192411|21768384" MGI:2148802 RGD:621658 612855 HGNC:30301 "ENST00000308284.11|NM_033127.4" HGNC:20260 SEC22A SEC22 homolog A, vesicle trafficking protein protein-coding gene gene with protein product Approved 3q21.1 03q21.1 SEC22L2 "SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)|SEC22 vesicle trafficking protein homolog A (S. cerevisiae)" SNAREs 1124 2003-02-04 2006-04-25 2015-08-05 2023-01-20 26984 ENSG00000121542 OTTHUMG00000159495 uc003ege.4 AF100749 NM_012430 CCDS3021 Q96IW7 "9094723|9501016" MGI:2447876 RGD:621659 612442 HGNC:20260 "ENST00000492595.6|NM_012430.5" @@ -34788,21 +34791,21 @@ HGNC:10700 SEC22B SEC22 homolog B, vesicle trafficking protein protein-coding ge HGNC:53890 SEC22B2P SEC22 homolog B2, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 SEC22B2 SEC22 homolog B2 2018-05-15 2019-06-28 2019-06-28 2019-06-28 100996716 ENSG00000274423 OTTHUMG00000013745 NR_158171 PGOHUM00000296561 HGNC:53890 HGNC:53891 SEC22B3P SEC22 homolog B3, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 SEC22B3 SEC22 homolog B3 2018-05-15 2019-06-28 2019-06-28 2019-06-28 100996517 ENSG00000275140 OTTHUMG00000188674 NR_158170 PGOHUM00000295884 HGNC:53891 HGNC:53892 SEC22B4P SEC22 homolog B4, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 2018-05-15 2018-05-15 102724364 ENSG00000277406 OTTHUMG00000188667 PGOHUM00000295870 HGNC:53892 -HGNC:16828 SEC22C SEC22 homolog C, vesicle trafficking protein protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "MGC13261|MGC5373" SEC22L3 "SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)|SEC22 vesicle trafficking protein homolog C (S. cerevisiae)" SNAREs 1124 2003-02-04 2006-04-25 2015-08-05 2023-01-20 9117 ENSG00000093183 OTTHUMG00000131797 uc003clj.4 AF039568 NM_004206 "CCDS2700|CCDS56246|CCDS2699" Q9BRL7 "9501016|11001058" MGI:2447871 RGD:1590146 604028 HGNC:16828 "ENST00000264454.8|NM_032970.4" +HGNC:16828 SEC22C SEC22 homolog C, vesicle trafficking protein protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "MGC13261|MGC5373" SEC22L3 "SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)|SEC22 vesicle trafficking protein homolog C (S. cerevisiae)" SNAREs 1124 2003-02-04 2006-04-25 2015-08-05 2023-01-20 9117 ENSG00000093183 OTTHUMG00000131797 uc003clj.4 AF039568 NM_004206 "CCDS56246|CCDS2700|CCDS2699" Q9BRL7 "9501016|11001058" MGI:2447871 RGD:1590146 604028 HGNC:16828 "ENST00000264454.8|NM_032970.4" HGNC:10701 SEC23A SEC23 homolog A, COPII coat complex component protein-coding gene gene with protein product Approved 14q21.1 14q21.1 "Sec23 (S. cerevisiae) homolog A|Sec23 homolog A (S. cerevisiae)|Sec23 homolog A, COPII coat complex component" COPII coat complex 1960 2000-01-07 2020-12-08 2023-01-20 10484 ENSG00000100934 OTTHUMG00000028812 uc001wup.2 X97064 NM_006364 CCDS9668 Q15436 "8898360|10329445" MGI:1349635 RGD:1309103 610511 118565 HGNC:10701 "ENST00000307712.11|NM_006364.4" HGNC:10701 HGNC:53213 SEC23A-AS1 SEC23A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Antisense RNAs 1987 2017-03-21 2021-01-14 105370458 ENSG00000258651 OTTHUMG00000170749 NR_146545 HGNC:53213 -HGNC:10702 SEC23B SEC23 homolog B, COPII coat complex component protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "CDA-II|CDAII|HEMPAS" CDAN2 "Sec23 (S. cerevisiae) homolog B|congenital dyserythropoietic anemia, type II|Sec23 homolog B (S. cerevisiae)" COPII coat complex 1960 2000-01-07 2019-09-27 2023-01-20 10483 ENSG00000101310 OTTHUMG00000031976 uc002wqz.3 X97065 NM_001172745 "CCDS13137|CCDS86935" Q15437 "8898360|10329445|19621418" MGI:1350925 RGD:1310699 LRG_1134|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1134.xml 610512 205932 HGNC:10702 "ENST00000650089.1|NM_006363.6" HGNC:10702 +HGNC:10702 SEC23B SEC23 homolog B, COPII coat complex component protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "CDA-II|CDAII|HEMPAS" CDAN2 "Sec23 (S. cerevisiae) homolog B|congenital dyserythropoietic anemia, type II|Sec23 homolog B (S. cerevisiae)" COPII coat complex 1960 2000-01-07 2019-09-27 2023-01-20 10483 ENSG00000101310 OTTHUMG00000031976 uc002wqz.3 X97065 NM_001172745 "CCDS86935|CCDS13137" Q15437 "8898360|10329445|19621418" MGI:1350925 RGD:1310699 LRG_1134|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1134.xml 610512 205932 HGNC:10702 "ENST00000650089.1|NM_006363.6" HGNC:10702 HGNC:17018 SEC23IP SEC23 interacting protein protein-coding gene gene with protein product Approved 10q26.11-q26.12 10q26.11-q26.12 "p125|iPLA1beta|iPLA1Ã|p125A" intracellular phospholipase A1 beta Sterile alpha motif domain containing 760 2003-04-03 2023-01-20 11196 ENSG00000107651 OTTHUMG00000019161 uc001leu.3 AB019435 NM_001411070 "CCDS91362|CCDS7618" Q9Y6Y8 10400679 MGI:2450915 RGD:1309328 617852 HGNC:17018 "ENST00000369075.8|NM_007190.4" HGNC:10703 SEC24A SEC24 homolog A, COPII coat complex component protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "SEC24 (S. cerevisiae) related gene family, member A|SEC24 family, member A (S. cerevisiae)|SEC24 family member A" COPII coat complex 1960 2000-01-07 2015-08-05 2023-01-20 10802 ENSG00000113615 OTTHUMG00000163064 uc003kzs.4 AJ131244 NM_021982 "CCDS58967|CCDS43363" O95486 "10075675|10329445" MGI:1924621 RGD:1309451 607183 HGNC:10703 "ENST00000398844.7|NM_021982.3" HGNC:53767 SEC24AP1 SEC24 homolog A pseudogene 1 pseudogene pseudogene Approved 17q24.2 17q24.2 2017-10-25 2017-10-25 100421166 ENSG00000267361 OTTHUMG00000180259 NG_026202 PGOHUM00000294213 HGNC:53767 -HGNC:10704 SEC24B SEC24 homolog B, COPII coat complex component protein-coding gene gene with protein product Approved 4q25 04q25 "SEC24 (S. cerevisiae) related gene family, member B|SEC24 family, member B (S. cerevisiae)|SEC24 family member B" "MicroRNA protein coding host genes|COPII coat complex" "1691|1960" 2000-01-07 2015-08-05 2023-01-20 10427 ENSG00000138802 OTTHUMG00000161372 uc003hzl.4 AJ131245 NM_001042734 "CCDS47124|CCDS75179|CCDS43260" O95487 "10075675|10329445" MGI:2139764 RGD:1309358 607184 HGNC:10704 "ENST00000265175.5|NM_006323.5" +HGNC:10704 SEC24B SEC24 homolog B, COPII coat complex component protein-coding gene gene with protein product Approved 4q25 04q25 "SEC24 (S. cerevisiae) related gene family, member B|SEC24 family, member B (S. cerevisiae)|SEC24 family member B" "MicroRNA protein coding host genes|COPII coat complex" "1691|1960" 2000-01-07 2015-08-05 2023-01-20 10427 ENSG00000138802 OTTHUMG00000161372 uc003hzl.4 AJ131245 NM_001042734 "CCDS75179|CCDS47124|CCDS43260" O95487 "10075675|10329445" MGI:2139764 RGD:1309358 607184 HGNC:10704 "ENST00000265175.5|NM_006323.5" HGNC:44003 SEC24B-AS1 SEC24B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q25 04q25 1/2-SBSRNA4 SEC24B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-28 2012-08-15 2012-10-12 100533182 ENSG00000247950 OTTHUMG00000161048 uc062yym.1 BC009800 NR_039978 21307942 SEC24B-AS1 HGNC:44003 HGNC:10705 SEC24C SEC24 homolog C, COPII coat complex component protein-coding gene gene with protein product Approved 10q22.2 10q22.2 KIAA0079 "SEC24 (S. cerevisiae) related gene family, member C|SEC24 family, member C (S. cerevisiae)|SEC24 family member C" COPII coat complex 1960 2000-01-07 2015-08-05 2023-01-20 9632 ENSG00000176986 OTTHUMG00000018476 uc001jux.4 D38555 NM_004922 CCDS7332 P53992 "10214955|7584044" MGI:1919746 RGD:1597739 607185 458278 HGNC:10705 "ENST00000345254.9|NM_198597.3" HGNC:10706 SEC24D SEC24 homolog D, COPII coat complex component protein-coding gene gene with protein product Approved 4q26 04q26 KIAA0755 "SEC24 (S. cerevisiae) related gene family, member D|SEC24 family, member D (S. cerevisiae)|SEC24 family member D" COPII coat complex 1960 2000-01-07 2015-08-05 2023-01-20 9871 ENSG00000150961 OTTHUMG00000132957 uc003ici.5 AB018298 NM_001318066 CCDS3710 O94855 "9872452|10075675" MGI:1916858 RGD:1311720 607186 426017 HGNC:10706 "ENST00000280551.11|NM_014822.4" HGNC:10706 -HGNC:17052 SEC31A SEC31 homolog A, COPII coat complex component protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "KIAA0905|ABP125|ABP130" SEC31L1 "SEC31-like 1 (S. cerevisiae)|Sec31 homolog A (S. cerevisiae)|SEC31 homolog A (S. cerevisiae)" "WD repeat domain containing|COPII coat complex" "362|1960" 2004-01-12 2006-09-07 2015-08-05 2023-01-20 22872 ENSG00000138674 OTTHUMG00000130297 uc003hnm.4 AB018358 NM_016211 "CCDS93555|CCDS75156|CCDS47088|CCDS54773|CCDS3596|CCDS75155|CCDS43244|CCDS3597" O94979 "10788476|18692470" MGI:1916412 RGD:620233 610257 HGNC:17052 "ENST00000395310.7|NM_001077207.4" HGNC:17052 +HGNC:17052 SEC31A SEC31 homolog A, COPII coat complex component protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "KIAA0905|ABP125|ABP130" SEC31L1 "SEC31-like 1 (S. cerevisiae)|Sec31 homolog A (S. cerevisiae)|SEC31 homolog A (S. cerevisiae)" "WD repeat domain containing|COPII coat complex" "362|1960" 2004-01-12 2006-09-07 2015-08-05 2023-01-20 22872 ENSG00000138674 OTTHUMG00000130297 uc003hnm.4 AB018358 NM_016211 "CCDS3596|CCDS75155|CCDS3597|CCDS93555|CCDS75156|CCDS43244|CCDS47088|CCDS54773" O94979 "10788476|18692470" MGI:1916412 RGD:620233 610257 HGNC:17052 "ENST00000395310.7|NM_001077207.4" HGNC:17052 HGNC:23197 SEC31B SEC31 homolog B, COPII coat complex component protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "SEC31B-1|DKFZP434M183" SEC31L2 "SEC31-like 2 (S. cerevisiae)|SEC31 homolog B (S. cerevisiae)" "WD repeat domain containing|COPII coat complex" "362|1960" 2003-10-06 2006-09-07 2015-08-05 2023-03-15 25956 ENSG00000075826 OTTHUMG00000019342 uc001krc.2 AF274863 NM_015490 CCDS7495 Q9NQW1 16495487 MGI:2685187 RGD:1598329 610258 HGNC:23197 "ENST00000370345.8|NM_015490.4" -HGNC:18276 SEC61A1 SEC61 translocon subunit alpha 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 Sec61 alpha 1 subunit (S. cerevisiae) 2003-10-13 2019-11-26 2023-01-20 29927 ENSG00000058262 OTTHUMG00000159624 uc003ekb.4 AF077032 NM_013336 "CCDS93366|CCDS3046|CCDS93367" P61619 "10212142|18480044" MGI:1858417 RGD:68321 609213 HGNC:18276 "ENST00000243253.8|NM_013336.4" HGNC:18276 -HGNC:17702 SEC61A2 SEC61 translocon subunit alpha 2 protein-coding gene gene with protein product Approved 10p14 10p14 FLJ10578 Sec61 alpha 2 subunit (S. cerevisiae) 2003-10-13 2019-11-26 2023-01-20 55176 ENSG00000065665 OTTHUMG00000017679 uc001ile.3 AF346603 NM_018144 "CCDS44359|CCDS7088|CCDS44358" Q9H9S3 "10212142|18480044" MGI:1931071 RGD:1305948 618271 HGNC:17702 "ENST00000298428.14|NM_018144.4" +HGNC:18276 SEC61A1 SEC61 translocon subunit alpha 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 Sec61 alpha 1 subunit (S. cerevisiae) 2003-10-13 2019-11-26 2023-01-20 29927 ENSG00000058262 OTTHUMG00000159624 uc003ekb.4 AF077032 NM_013336 "CCDS3046|CCDS93367|CCDS93366" P61619 "10212142|18480044" MGI:1858417 RGD:68321 609213 HGNC:18276 "ENST00000243253.8|NM_013336.4" HGNC:18276 +HGNC:17702 SEC61A2 SEC61 translocon subunit alpha 2 protein-coding gene gene with protein product Approved 10p14 10p14 FLJ10578 Sec61 alpha 2 subunit (S. cerevisiae) 2003-10-13 2019-11-26 2023-01-20 55176 ENSG00000065665 OTTHUMG00000017679 uc001ile.3 AF346603 NM_018144 "CCDS44358|CCDS7088|CCDS44359" Q9H9S3 "10212142|18480044" MGI:1931071 RGD:1305948 618271 HGNC:17702 "ENST00000298428.14|NM_018144.4" HGNC:16993 SEC61B SEC61 translocon subunit beta protein-coding gene gene with protein product Approved 9q22.33 09q22.33 Sec61 beta subunit 2003-10-13 2019-11-26 2023-01-20 10952 ENSG00000106803 OTTHUMG00000020354 uc004azh.4 L25085 NM_006808 CCDS6741 P60468 "8107851|10212142" MGI:1913462 RGD:1304997 609214 HGNC:16993 "ENST00000223641.5|NM_006808.3" HGNC:16993 HGNC:18277 SEC61G SEC61 translocon subunit gamma protein-coding gene gene with protein product Approved 7p11.2 07p11.2 SSS1 Sec61 gamma subunit 2003-11-14 2019-11-26 2023-01-20 23480 ENSG00000132432 OTTHUMG00000023430 uc064dsf.1 AF086539 NM_014302 CCDS5513 P60059 "8107851|10212142" MGI:1202066 RGD:1596170 609215 HGNC:18277 "ENST00000352861.9|NM_014302.4" HGNC:40835 SEC61G-DT SEC61G divergent transcript non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Divergent transcripts 1990 2020-03-19 2020-03-19 100996654 ENSG00000234707 OTTHUMG00000156071 NR_110040 @@ -34812,16 +34815,16 @@ HGNC:40586 SEC62-AS1 SEC62 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:21082 SEC63 SEC63 homolog, protein translocation regulator protein-coding gene gene with protein product Approved 6q21 06q21 "SEC63L|PRO2507|ERdj2|DNAJC23" "SEC63-like (S. cerevisiae)|SEC63 homolog (S. cerevisiae)" DNAJ (HSP40) heat shock proteins 584 2003-05-15 2015-07-31 2023-01-20 11231 ENSG00000025796 OTTHUMG00000015316 uc003psc.5 BC048287 NM_007214 CCDS5061 Q9UGP8 "10219736|10543453|23166619" MGI:2155302 RGD:1304984 608648 118567 HGNC:21082 "ENST00000369002.9|NM_007214.5" HGNC:21082 HGNC:41953 SEC63P1 SEC63 homolog, protein translocation regulator pseudogene 1 pseudogene pseudogene Approved 1p21.3 01p21.3 SEC63 homolog (S. cerevisiae) pseudogene 1 2011-05-20 2015-07-31 2015-07-31 100420341 ENSG00000228057 OTTHUMG00000039678 NG_027119 PGOHUM00000244805 HGNC:41953 HGNC:41954 SEC63P2 SEC63 homolog, protein translocation regulator pseudogene 2 pseudogene pseudogene Approved 4p15.1 04p15.1 SEC63 homolog (S. cerevisiae) pseudogene 2 2011-05-20 2015-07-31 2015-07-31 100420287 ENSG00000250416 OTTHUMG00000160374 NG_025200 PGOHUM00000245877 HGNC:41954 -HGNC:30972 SECISBP2 SECIS binding protein 2 protein-coding gene gene with protein product Approved 9q22.2 09q22.2 SBP2 "Sec insertion sequence-binding protein 2|Selenocysteine insertion sequence-binding protein 2" 2004-05-10 2023-01-20 79048 ENSG00000187742 OTTHUMG00000020182 uc004aqj.3 AF380995 NM_024077 "CCDS6683|CCDS65077|CCDS65076" Q96T21 11230166 MGI:1922670 RGD:620991 607693 181119 HGNC:30972 "ENST00000375807.8|NM_024077.5" HGNC:30972 +HGNC:30972 SECISBP2 SECIS binding protein 2 protein-coding gene gene with protein product Approved 9q22.2 09q22.2 SBP2 "Sec insertion sequence-binding protein 2|Selenocysteine insertion sequence-binding protein 2" 2004-05-10 2023-01-20 79048 ENSG00000187742 OTTHUMG00000020182 uc004aqj.3 AF380995 NM_024077 "CCDS65077|CCDS65076|CCDS6683" Q96T21 11230166 MGI:1922670 RGD:620991 607693 181119 HGNC:30972 "ENST00000375807.8|NM_024077.5" HGNC:30972 HGNC:28997 SECISBP2L SECIS binding protein 2 like protein-coding gene gene with protein product Approved 15q21.1 15q21.1 KIAA0256 2009-02-11 2016-03-02 2023-01-20 9728 ENSG00000138593 OTTHUMG00000172194 uc001zxd.4 BC033001 NM_014701 "CCDS53942|CCDS32234" Q93073 MGI:1917604 RGD:1559930 615756 HGNC:28997 "ENST00000559471.6|NM_001193489.2" HGNC:10707 SECTM1 secreted and transmembrane 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 K12 "K12 protein|type 1a transmembrane protein" 1997-10-27 2023-01-20 6398 ENSG00000141574 OTTHUMG00000178668 uc002keo.4 U77643 NM_003004 CCDS11808 Q8WVN6 9480746 MGI:2384805 RGD:735132 602602 HGNC:10707 "ENST00000269389.8|NM_003004.3" -HGNC:30379 SEH1L SEH1 like nucleoporin protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "SEH1A|SEH1B|Seh1|SEC13L" "sec13 like protein|nucleoporin Seh1" "SEH1-like (S. cerevisiae)|SEH1-like nucleoporin" "WD repeat domain containing|Nucleoporins|GATOR2 subcomplex" "362|1051|1395" 2004-07-08 2015-12-01 2023-01-20 81929 ENSG00000085415 OTTHUMG00000181909 uc002krr.5 BC012430 NM_031216 "CCDS45832|CCDS32791" Q96EE3 "12196509|14517296|15146057" MGI:1919374 RGD:6490353 609263 HGNC:30379 "ENST00000399892.7|NM_001013437.2" +HGNC:30379 SEH1L SEH1 like nucleoporin protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "SEH1A|SEH1B|Seh1|SEC13L" "sec13 like protein|nucleoporin Seh1" "SEH1-like (S. cerevisiae)|SEH1-like nucleoporin" "WD repeat domain containing|Nucleoporins|GATOR2 subcomplex" "362|1051|1395" 2004-07-08 2015-12-01 2023-01-20 81929 ENSG00000085415 OTTHUMG00000181909 uc002krr.5 BC012430 NM_031216 "CCDS32791|CCDS45832" Q96EE3 "12196509|14517296|15146057" MGI:1919374 RGD:6490353 609263 HGNC:30379 "ENST00000399892.7|NM_001013437.2" HGNC:10717 SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase protein-coding gene gene with protein product Approved 14q31 14q31 "IBD2|SEL1L1|Hrd3" sel-1 suppressor of lin-12-like 1 (C. elegans) "sel-1 suppressor of lin-12-like (C. elegans)|SEL1L, ERAD E3 ligase adaptor subunit" 1997-04-25 2019-02-07 2023-01-20 6400 ENSG00000071537 OTTHUMG00000171419 uc010tvv.3 NM_005065 "CCDS58333|CCDS9876" Q9UBV2 "9417916|10051412|16331677|8264092" MGI:1329016 RGD:620147 602329 HGNC:10717 "ENST00000336735.9|NM_005065.6" HGNC:15897 SEL1L2 SEL1L2 adaptor subunit of ERAD E3 ubiquitin ligase protein-coding gene gene with protein product Approved 20p12.1 20p12.1 DKFZp434C1826 C20orf50 "chromosome 20 open reading frame 50|sel-1 suppressor of lin-12-like 2 (C. elegans)|SEL1L2 adaptor subunit of ERAD E3 ligase" 2001-06-21 2006-11-24 2023-03-09 2023-03-15 80343 ENSG00000101251 OTTHUMG00000031910 uc061vme.1 AL137678 NM_025229 "CCDS59443|CCDS86933" Q5TEA6 MGI:2684964 RGD:1311278 614289 HGNC:15897 "ENST00000284951.10|NM_025229.2" -HGNC:29108 SEL1L3 SEL1L family member 3 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 KIAA0746 KIAA0746 protein sel-1 suppressor of lin-12-like 3 (C. elegans) 2009-09-24 2016-01-20 2023-01-20 23231 ENSG00000091490 OTTHUMG00000160331 uc003gru.5 BC009945 NM_015187 "CCDS47037|CCDS77907|CCDS75113" Q68CR1 9872452 MGI:1916941 RGD:1562860 619914 HGNC:29108 "ENST00000399878.8|NM_015187.5" +HGNC:29108 SEL1L3 SEL1L family member 3 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 KIAA0746 KIAA0746 protein sel-1 suppressor of lin-12-like 3 (C. elegans) 2009-09-24 2016-01-20 2023-01-20 23231 ENSG00000091490 OTTHUMG00000160331 uc003gru.5 BC009945 NM_015187 "CCDS75113|CCDS77907|CCDS47037" Q68CR1 9872452 MGI:1916941 RGD:1562860 619914 HGNC:29108 "ENST00000399878.8|NM_015187.5" HGNC:10718 SELE selectin E protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "ESEL|CD62E" "ELAM1|ELAM" endothelial adhesion molecule 1 "CD molecules|Selectins|Sushi domain containing|C-type lectin domain containing" "471|945|1179|1298" 1989-06-30 2008-07-31 2023-01-20 6401 ENSG00000007908 OTTHUMG00000034851 uc001ggm.5 M30640 NM_000450 CCDS1283 P16581 1375831 MGI:98278 RGD:3654 131210 objectId:3200 CD62E HGNC:10718 "ENST00000333360.12|NM_000450.2" -HGNC:10719 SELENBP1 selenium binding protein 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "hSP56|hSBP|LPSB" methanethiol oxidase 1999-01-15 2023-01-20 8991 ENSG00000143416 OTTHUMG00000012498 uc001exx.5 U29091 NM_001258288 "CCDS60266|CCDS995|CCDS58027" Q13228 9027582 MGI:96825 RGD:620571 604188 HGNC:10719 "ENST00000368868.10|NM_003944.4" HGNC:10719 -HGNC:17705 SELENOF selenoprotein F protein-coding gene gene with protein product Approved 1p22.3 01p22.3 SEP15 selenoprotein F (15kDa) Selenoproteins 890 2016-09-18 2023-01-20 9403 ENSG00000183291 OTTHUMG00000008520 NM_004261 "CCDS76178|CCDS76177" O60613 "9535873|10945981" MGI:1927947 RGD:621291 606254 HGNC:17705 "ENST00000331835.10|NM_004261.5" +HGNC:10719 SELENBP1 selenium binding protein 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "hSP56|hSBP|LPSB" methanethiol oxidase 1999-01-15 2023-01-20 8991 ENSG00000143416 OTTHUMG00000012498 uc001exx.5 U29091 NM_001258288 "CCDS995|CCDS58027|CCDS60266" Q13228 9027582 MGI:96825 RGD:620571 604188 HGNC:10719 "ENST00000368868.10|NM_003944.4" HGNC:10719 +HGNC:17705 SELENOF selenoprotein F protein-coding gene gene with protein product Approved 1p22.3 01p22.3 SEP15 selenoprotein F (15kDa) Selenoproteins 890 2016-09-18 2023-01-20 9403 ENSG00000183291 OTTHUMG00000008520 NM_004261 "CCDS76177|CCDS76178" O60613 "9535873|10945981" MGI:1927947 RGD:621291 606254 HGNC:17705 "ENST00000331835.10|NM_004261.5" HGNC:18251 SELENOH selenoprotein H protein-coding gene gene with protein product Approved 11q12.1 11q12.1 SELH C11orf31 chromosome 11 open reading frame 31 Selenoproteins 890 2002-02-19 2016-09-21 2016-09-21 2023-01-20 280636 ENSG00000211450 OTTHUMG00000167202 uc021qjj.2 AJ276249 NM_170746 CCDS44602 Q8IZQ5 12775843 MGI:1919907 RGD:1563348 607914 HGNC:18251 "ENST00000534355.6|NM_170746.4" HGNC:29361 SELENOI selenoprotein I protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "KIAA1724|SELI|SEPI" EPT1 "ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)|ethanolaminephosphotransferase 1" Selenoproteins 890 2010-03-01 2016-09-21 2016-09-21 2023-01-20 85465 ENSG00000138018 OTTHUMG00000151931 uc021veu.2 NM_033505.2 CCDS46240 Q9C0D9 "28052917|11214970|17132865" MGI:107898 RGD:1560938 607915 2.7.8.1 HGNC:29361 "ENST00000260585.12|NM_033505.4" HGNC:30394 SELENOK selenoprotein K protein-coding gene gene with protein product Approved 3p21.1 03p21.1 SELK Selenoproteins 890 2016-09-18 2023-01-20 58515 ENSG00000113811 OTTHUMG00000158656 NM_021237 CCDS54597 Q9Y6D0 11042152 MGI:1931466 RGD:1303129 607916 HGNC:30394 "ENST00000495461.6|NM_021237.5" @@ -34844,33 +34847,33 @@ HGNC:10753 SELENOWP1 selenoprotein W pseudogene 1 pseudogene pseudogene Approved HGNC:10720 SELL selectin L protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "LSEL|LAM1|LAM-1|hLHRc|Leu-8|Lyam-1|PLNHR|CD62L" "LYAM1|LNHR" lymphocyte adhesion molecule 1 "CD molecules|Selectins|Sushi domain containing|C-type lectin domain containing" "471|945|1179|1298" 1989-06-07 2008-07-31 2023-01-20 6402 ENSG00000188404 OTTHUMG00000034809 uc001ggk.4 M25280 NM_000655 CCDS53427 P14151 "2664786|1375831" MGI:98279 RGD:3655 153240 CD62L HGNC:10720 "ENST00000236147.6|NM_000655.5" HGNC:10721 SELP selectin P protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "CD62|PSEL|PADGEM|GMP140|CD62P" "antigen CD62|granule membrane protein 140kDa" GRMP "selectin P (granule membrane protein 140kD, antigen CD62)|selectin P (granule membrane protein 140kDa, antigen CD62)" "CD molecules|Selectins|Sushi domain containing|C-type lectin domain containing" "471|945|1179|1298" 1989-06-30 2015-11-16 2023-01-20 6403 ENSG00000174175 OTTHUMG00000034685 uc001ggi.5 BC068533 NM_003005 CCDS1282 P16109 1375831 MGI:98280 RGD:3656 173610 objectId:3103 CD62P HGNC:10721 "ENST00000263686.11|NM_003005.4" HGNC:10722 SELPLG selectin P ligand protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "PSGL-1|CD162" "CD molecules|Receptor ligands" "471|542" 1995-01-31 2023-01-20 6404 ENSG00000110876 OTTHUMG00000169411 uc001tni.4 NM_001206609 "CCDS31895|CCDS55881" Q14242 7505206 MGI:106689 RGD:1307971 600738 ligandId:10014 CD162 HGNC:10722 "ENST00000550948.2|NM_003006.4" -HGNC:10845 SEM1 SEM1 26S proteasome subunit protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "DSS1|Shfdg1|ECD|SHSF1|FLJ42280|PSMD15" deleted in split-hand/foot 1 "SHFD1|SHFM1|C7orf76" "split hand/foot malformation (ectrodactyly) type 1|chromosome 7 open reading frame 76|SEM1, 26S proteasome complex subunit" "Proteasome|Transcription and export complex 2" "690|1276" 1991-08-20 2016-11-22 2021-02-25 2023-03-15 7979 ENSG00000127922 OTTHUMG00000150680 uc003uoi.4 U41515 NM_006304 "CCDS94149|CCDS94150|CCDS94146|CCDS5646|CCDS94147|CCDS94148" "P60896|Q6ZVN7" "1895319|8733122" MGI:109238 RGD:1590628 601285 138681 HGNC:10845 "ENST00000248566.4|NM_006304.2" +HGNC:10845 SEM1 SEM1 26S proteasome subunit protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "DSS1|Shfdg1|ECD|SHSF1|FLJ42280|PSMD15" deleted in split-hand/foot 1 "SHFD1|SHFM1|C7orf76" "split hand/foot malformation (ectrodactyly) type 1|chromosome 7 open reading frame 76|SEM1, 26S proteasome complex subunit" "Proteasome|Transcription and export complex 2" "690|1276" 1991-08-20 2016-11-22 2021-02-25 2023-03-15 7979 ENSG00000127922 OTTHUMG00000150680 uc003uoi.4 U41515 NM_006304 "CCDS94146|CCDS94147|CCDS94149|CCDS94148|CCDS5646|CCDS94150" "P60896|Q6ZVN7" "1895319|8733122" MGI:109238 RGD:1590628 601285 138681 HGNC:10845 "ENST00000248566.4|NM_006304.2" HGNC:24454 SEM1P1 SEM1 pseudogene 1 pseudogene pseudogene Approved 5q14.1 05q14.1 DSS1P1 deleted in split hand/split foot 1 pseudogene "SHFM1P|SHFM1P1" "split hand/foot malformation (ectrodactyly) type 1 pseudogene|split hand/foot malformation (ectrodactyly) type 1 pseudogene 1" 2007-07-26 2016-11-22 2019-01-22 2019-01-22 153842 ENSG00000214857 OTTHUMG00000162556 U61847 NG_001311 9060422 HGNC:24454 HGNC:10723 SEMA3A semaphorin 3A protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "SEMA1|SemD|coll-1|Hsema-I" sema III SEMAD sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A "Immunoglobulin like domain containing|Semaphorins" "594|736" 1999-06-25 2016-01-14 2023-01-20 10371 ENSG00000075213 OTTHUMG00000023443 uc003uhz.4 L26081 NM_006080 CCDS5599 Q14563 "8269517|7748561" MGI:107558 RGD:3657 603961 294689 ligandId:9902 HGNC:10723 "ENST00000265362.9|NM_006080.3" HGNC:10723 -HGNC:10724 SEMA3B semaphorin 3B protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SemA|semaV|LUCA-1|sema5" SEMAA sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B "Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "594|736|1691" 1999-06-25 2016-01-14 2023-01-20 7869 ENSG00000012171 OTTHUMG00000156970 uc032rmz.2 U28369 NM_001005914 "CCDS77744|CCDS77743|CCDS77745|CCDS74941" Q13214 "7748561|8633026" MGI:107561 RGD:1310079 601281 HGNC:10724 "ENST00000616701.5|NM_001290060.2" +HGNC:10724 SEMA3B semaphorin 3B protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SemA|semaV|LUCA-1|sema5" SEMAA sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B "Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "594|736|1691" 1999-06-25 2016-01-14 2023-01-20 7869 ENSG00000012171 OTTHUMG00000156970 uc032rmz.2 U28369 NM_001005914 "CCDS77743|CCDS74941|CCDS77745|CCDS77744" Q13214 "7748561|8633026" MGI:107561 RGD:1310079 601281 HGNC:10724 "ENST00000616701.5|NM_001290060.2" HGNC:49096 SEMA3B-AS1 SEMA3B antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 Antisense RNAs 1987 2013-09-02 2019-07-11 101928931 ENSG00000232352 OTTHUMG00000156955 NR_110702 "30656427|31251699" SEMA3B-AS1 HGNC:49096 HGNC:10725 SEMA3C semaphorin 3C protein-coding gene gene with protein product Approved 7q21.11 07q21.11 SemE SEMAE sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C "I-set domain containing|Semaphorins" "593|736" 1999-06-25 2016-01-14 2023-01-20 10512 ENSG00000075223 OTTHUMG00000023447 uc064evu.1 AB000220 NM_006379 CCDS5596 Q99985 "7748561|9168980" MGI:107557 RGD:1309343 602645 431136 HGNC:10725 "ENST00000265361.8|NM_006379.5" HGNC:10726 SEMA3D semaphorin 3D protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "coll-2|Sema-Z2" sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D "V-set domain containing|Semaphorins" "590|736" 1999-06-25 2016-01-14 2023-01-20 223117 ENSG00000153993 OTTHUMG00000154569 uc003uic.4 BC029590 NM_152754 CCDS34676 O95025 MGI:1860118 RGD:727939 609907 431145 HGNC:10726 "ENST00000284136.11|NM_001384900.1" HGNC:10727 SEMA3E semaphorin 3E protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "M-SemaK|KIAA0331|coll-5" M-sema H SEMAH sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E "Immunoglobulin like domain containing|Semaphorins" "594|736" 1999-06-25 2016-01-14 2023-03-15 9723 ENSG00000170381 OTTHUMG00000154693 uc003uhy.3 AB002329 NM_012431 CCDS34674 O15041 "9205841|9515811" MGI:1340034 RGD:1310973 LRG_1287|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1287.xml 608166 118590 HGNC:10727 "ENST00000643230.2|NM_012431.3" HGNC:10727 -HGNC:10728 SEMA3F semaphorin 3F protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SEMAK|Sema4" sema IV sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F "Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "594|736|1691" 1995-12-18 2016-01-14 2023-01-20 6405 ENSG00000001617 OTTHUMG00000156806 uc003cyj.4 U33920 NM_004186 "CCDS2811|CCDS82779|CCDS82780" Q13275 "8786119|8649831" MGI:1096347 RGD:1308514 601124 HGNC:10728 "ENST00000002829.8|NM_004186.5" +HGNC:10728 SEMA3F semaphorin 3F protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SEMAK|Sema4" sema IV sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F "Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "594|736|1691" 1995-12-18 2016-01-14 2023-01-20 6405 ENSG00000001617 OTTHUMG00000156806 uc003cyj.4 U33920 NM_004186 "CCDS2811|CCDS82780|CCDS82779" Q13275 "8786119|8649831" MGI:1096347 RGD:1308514 601124 HGNC:10728 "ENST00000002829.8|NM_004186.5" HGNC:40518 SEMA3F-AS1 SEMA3F antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 RBM5-AS1 Antisense RNAs 1987 2014-06-12 2014-11-19 100129060 ENSG00000235016 OTTHUMG00000156795 AK125500 NR_135301 SEMA3F-AS1 HGNC:40518 HGNC:30400 SEMA3G semaphorin 3G protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "FLJ00014|sem2" sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G "Immunoglobulin like domain containing|Semaphorins" "594|736" 2005-07-12 2016-01-14 2023-01-20 56920 ENSG00000010319 OTTHUMG00000158570 uc003dea.2 NM_020163 CCDS2856 Q9NS98 11214971 MGI:3041242 RGD:1306079 HGNC:30400 "ENST00000231721.7|NM_020163.3" HGNC:10729 SEMA4A semaphorin 4A protein-coding gene gene with protein product Approved 1q22 01q22 "SemB|FLJ12287|CORD10" SEMAB sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A Semaphorins 736 2004-04-22 2016-01-14 2023-01-20 64218 ENSG00000196189 OTTHUMG00000014042 uc001fnl.4 AK022416 NM_022367 "CCDS1132|CCDS53378" Q9H3S1 "7748561|12374982" MGI:107560 RGD:1304636 607292 158388 HGNC:10729 "ENST00000368285.8|NM_022367.4" HGNC:10729 HGNC:10730 SEMA4B semaphorin 4B protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SemC|KIAA1745|MGC131831" SEMAC sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B Semaphorins 736 1999-06-25 2016-01-14 2023-01-20 10509 ENSG00000185033 OTTHUMG00000172096 uc002boy.4 AB051532 NM_198925 CCDS45347 Q9NPR2 7748561 MGI:107559 RGD:1307872 617029 HGNC:10730 "ENST00000411539.7|NM_198925.4" HGNC:10731 SEMA4C semaphorin 4C protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "Semacl1|Semaf" M-Sema F SEMAI sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C "Immunoglobulin like domain containing|Semaphorins" "594|736" 2004-02-04 2016-01-14 2023-01-20 54910 ENSG00000168758 OTTHUMG00000130535 uc002sxh.5 AB051526 NM_017789 CCDS2029 Q9C0C4 7656991 MGI:109252 RGD:1562837 604462 471040 HGNC:10731 "ENST00000305476.10|NM_017789.5" HGNC:10732 SEMA4D semaphorin 4D protein-coding gene gene with protein product Approved 9q22.2 09q22.2 "CD100|coll-4|FLJ39737" M-sema G "SEMAJ|C9orf164" "chromosome 9 open reading frame 164|sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D" "CD molecules|Immunoglobulin like domain containing|Semaphorins" "471|594|736" 1999-06-25 2016-01-14 2023-01-20 10507 ENSG00000187764 OTTHUMG00000020185 uc064ueq.1 U60800 NM_006378 "CCDS47991|CCDS6685" Q92854 "8876214|8969198" MGI:109244 RGD:1310554 601866 objectId:2883 CD100 HGNC:10732 "ENST00000422704.7|NM_001371194.2" -HGNC:10734 SEMA4F ssemaphorin 4F protein-coding gene gene with protein product Approved 2p13.1 02p13.1 SEMAW m-Sema M SEMAM sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F Semaphorins 736 1999-06-25 2016-01-14 2023-01-20 10505 ENSG00000135622 OTTHUMG00000129952 uc002sna.3 AF038652 NM_004263 "CCDS1955|CCDS74529|CCDS62942" O95754 10051670 MGI:1340055 RGD:3658 603706 HGNC:10734 "ENST00000357877.7|NM_004263.5" -HGNC:10735 SEMA4G semaphorin 4G protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FLJ20590|KIAA1619" sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G "Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "594|736|1691" 1999-06-25 2016-01-14 2023-01-20 57715 ENSG00000095539 OTTHUMG00000018922 uc001krw.3 AB046839 NM_001203244 "CCDS7501|CCDS91320|CCDS55724" Q9NTN9 MGI:1347047 RGD:1310436 618991 HGNC:10735 "ENST00000210633.4|NM_017893.4" +HGNC:10734 SEMA4F ssemaphorin 4F protein-coding gene gene with protein product Approved 2p13.1 02p13.1 SEMAW m-Sema M SEMAM sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F Semaphorins 736 1999-06-25 2016-01-14 2023-01-20 10505 ENSG00000135622 OTTHUMG00000129952 uc002sna.3 AF038652 NM_004263 "CCDS62942|CCDS1955|CCDS74529" O95754 10051670 MGI:1340055 RGD:3658 603706 HGNC:10734 "ENST00000357877.7|NM_004263.5" +HGNC:10735 SEMA4G semaphorin 4G protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FLJ20590|KIAA1619" sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G "Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "594|736|1691" 1999-06-25 2016-01-14 2023-01-20 57715 ENSG00000095539 OTTHUMG00000018922 uc001krw.3 AB046839 NM_001203244 "CCDS91320|CCDS55724|CCDS7501" Q9NTN9 MGI:1347047 RGD:1310436 618991 HGNC:10735 "ENST00000210633.4|NM_017893.4" HGNC:10736 SEMA5A semaphorin 5A protein-coding gene gene with protein product Approved 5p15.31 05p15.31 semF SEMAF sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A "Semaphorins|MicroRNA protein coding host genes" "736|1691" 1999-06-25 2016-01-14 2023-01-20 9037 ENSG00000112902 OTTHUMG00000090501 uc003jek.3 U52840 NM_003966 CCDS3875 Q13591 "8817451|9464278" MGI:107556 RGD:1308650 609297 158394 HGNC:10736 "ENST00000382496.10|NM_003966.3" HGNC:52973 SEMA5A-AS1 SEMA5A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 Antisense RNAs 1987 2016-12-22 2016-12-22 101929338 ENSG00000251370 OTTHUMG00000161718 NR_109935 HGNC:52973 -HGNC:10737 SEMA5B semaphorin 5B protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "SemG|KIAA1445|FLJ10372" SEMAG sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B Semaphorins 736 1999-06-25 2016-01-14 2023-03-15 54437 ENSG00000082684 OTTHUMG00000140392 uc003efz.3 AB040878 NM_001031702 "CCDS58848|CCDS74995|CCDS35491|CCDS93351" Q9P283 8817451 MGI:107555 RGD:1308914 609298 HGNC:10737 "ENST00000357599.8|NM_001031702.4" -HGNC:10738 SEMA6A semaphorin 6A protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "KIAA1368|SEMA6A1|SEMA|HT018" sema VIa SEMAQ sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A Semaphorins 736 1999-06-25 2016-01-14 2023-01-20 57556 ENSG00000092421 OTTHUMG00000162987 uc010jck.4 AB037789 NM_020796 "CCDS75288|CCDS47256" Q9H2E6 "9204478|10993894" MGI:1203727 RGD:1305493 605885 HGNC:10738 "ENST00000343348.11|NM_020796.5" +HGNC:10737 SEMA5B semaphorin 5B protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "SemG|KIAA1445|FLJ10372" SEMAG sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B Semaphorins 736 1999-06-25 2016-01-14 2023-03-15 54437 ENSG00000082684 OTTHUMG00000140392 uc003efz.3 AB040878 NM_001031702 "CCDS58848|CCDS35491|CCDS74995|CCDS93351" Q9P283 8817451 MGI:107555 RGD:1308914 609298 HGNC:10737 "ENST00000357599.8|NM_001031702.4" +HGNC:10738 SEMA6A semaphorin 6A protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "KIAA1368|SEMA6A1|SEMA|HT018" sema VIa SEMAQ sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A Semaphorins 736 1999-06-25 2016-01-14 2023-01-20 57556 ENSG00000092421 OTTHUMG00000162987 uc010jck.4 AB037789 NM_020796 "CCDS47256|CCDS75288" Q9H2E6 "9204478|10993894" MGI:1203727 RGD:1305493 605885 HGNC:10738 "ENST00000343348.11|NM_020796.5" HGNC:51110 SEMA6A-AS1 SEMA6A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Antisense RNAs 1987 2014-07-29 2014-07-29 101927233 ENSG00000248445 OTTHUMG00000162986 NR_109879 SEMA6A-AS1 HGNC:51110 HGNC:52754 SEMA6A-AS2 SEMA6A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Antisense RNAs 1987 2016-12-07 2016-12-07 105379132 ENSG00000249167 OTTHUMG00000162882 NR_147170 HGNC:52754 HGNC:10739 SEMA6B semaphorin 6B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "semaZ|SEMA-VIB|SEM-SEMA-Z" "Sema VIb|semaphorin Z|semaphorin VIB" SEMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B Semaphorins 736 1999-06-25 2016-01-14 2023-01-20 10501 ENSG00000167680 OTTHUMG00000182011 uc010dud.3 AB022433 NM_032108 CCDS12131 Q9H3T3 "9361278|942725" MGI:1202889 RGD:69278 608873 HGNC:10739 "ENST00000586582.6|NM_032108.4" HGNC:10739 -HGNC:10740 SEMA6C semaphorin 6C protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KIAA1869|Sema-Y" m-Sema Y2 sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C Semaphorins 736 1999-06-25 2016-01-14 2023-01-20 10500 ENSG00000143434 OTTHUMG00000012261 uc001ewv.4 AF339154 NM_030913 "CCDS53364|CCDS984|CCDS53363" Q9H3T2 "10049528|12110693" MGI:1338032 RGD:3659 609294 HGNC:10740 "ENST00000368914.8|NM_030913.6" -HGNC:16770 SEMA6D semaphorin 6D protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "KIAA1479|FLJ11598" sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D Semaphorins 736 2004-09-17 2016-01-14 2023-01-20 80031 ENSG00000137872 OTTHUMG00000172110 uc001zvy.3 AF389430 NM_024966 "CCDS32227|CCDS32225|CCDS32228|CCDS32226|CCDS32224|CCDS32229" Q8NFY4 "12110693|14977921" MGI:2387661 RGD:1310910 609295 HGNC:16770 "ENST00000536845.7|NM_001358351.3" HGNC:16770 -HGNC:10741 SEMA7A semaphorin 7A (John Milton Hagen blood group) protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "H-Sema-L|CD108" "John Milton Hagen blood group|H-Sema K1" SEMAL "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A|sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)|semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)" "Blood group antigens|CD molecules|Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "454|471|594|736|1691" 1999-06-25 2016-01-14 2023-01-20 8482 ENSG00000138623 OTTHUMG00000139000 uc002axv.4 AF069493 NM_003612 "CCDS53958|CCDS53959|CCDS10262" O75326 9721204 MGI:1306826 RGD:1305192 LRG_818|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_818.xml 607961 CD108 HGNC:10741 "ENST00000261918.9|NM_003612.5" +HGNC:10740 SEMA6C semaphorin 6C protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KIAA1869|Sema-Y" m-Sema Y2 sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C Semaphorins 736 1999-06-25 2016-01-14 2023-01-20 10500 ENSG00000143434 OTTHUMG00000012261 uc001ewv.4 AF339154 NM_030913 "CCDS53363|CCDS984|CCDS53364" Q9H3T2 "10049528|12110693" MGI:1338032 RGD:3659 609294 HGNC:10740 "ENST00000368914.8|NM_030913.6" +HGNC:16770 SEMA6D semaphorin 6D protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "KIAA1479|FLJ11598" sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D Semaphorins 736 2004-09-17 2016-01-14 2023-01-20 80031 ENSG00000137872 OTTHUMG00000172110 uc001zvy.3 AF389430 NM_024966 "CCDS32229|CCDS32227|CCDS32224|CCDS32228|CCDS32225|CCDS32226" Q8NFY4 "12110693|14977921" MGI:2387661 RGD:1310910 609295 HGNC:16770 "ENST00000536845.7|NM_001358351.3" HGNC:16770 +HGNC:10741 SEMA7A semaphorin 7A (John Milton Hagen blood group) protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "H-Sema-L|CD108" "John Milton Hagen blood group|H-Sema K1" SEMAL "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A|sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)|semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)" "Blood group antigens|CD molecules|Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "454|471|594|736|1691" 1999-06-25 2016-01-14 2023-01-20 8482 ENSG00000138623 OTTHUMG00000139000 uc002axv.4 AF069493 NM_003612 "CCDS53959|CCDS10262|CCDS53958" O75326 9721204 MGI:1306826 RGD:1305192 LRG_818|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_818.xml 607961 CD108 HGNC:10741 "ENST00000261918.9|NM_003612.5" HGNC:10742 SEMG1 semenogelin 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 CT103 "semen coagulating protein|cancer/testis antigen 103" SEMG semenogelin I 1991-09-13 2018-02-09 2023-03-15 6406 ENSG00000124233 OTTHUMG00000032565 uc002xni.3 NM_003007 CCDS13345 P04279 "2912989|15563730" "MGI:1858275|MGI:1927635|MGI:3583778" RGD:3790 182140 HGNC:10742 "ENST00000372781.4|NM_003007.5" HGNC:10743 SEMG2 semenogelin 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 SGII Semenogelin 2 semenogelin II 1992-12-02 2018-02-09 2023-01-20 6407 ENSG00000124157 OTTHUMG00000032566 uc002xnk.4 NM_003008 CCDS13346 Q02383 "1517240|9523691" "MGI:1858275|MGI:1927635|MGI:3583778" 182141 HGNC:10743 "ENST00000372769.4|NM_003008.3" HGNC:44177 SENCR smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 FLI1-AS1 "FLI1 antisense RNA 1 (non-protein coding)|FLI1 antisense RNA 1|smooth muscle and endothelial cell enriched migration/differentiation-associated long non-coding RNA" Long non-coding RNAs with non-systematic symbols 1992 2012-06-30 2013-11-25 2017-07-13 2018-09-07 100507392 ENSG00000254703 OTTHUMG00000165793 BC039676 NR_038908 24578380 615815 sencr SENCR HGNC:44177 @@ -34879,10 +34882,10 @@ HGNC:23116 SENP2 SUMO specific peptidase 2 protein-coding gene gene with protein HGNC:17862 SENP3 SUMO specific peptidase 3 protein-coding gene gene with protein product Approved 17p13 17p13 "DKFZP586K0919|SSP3|DKFZp762A152|SMT3IP1|Ulp1" "SUMO1/sentrin/SMT3 specific protease 3|SUMO1/sentrin/SMT3 specific peptidase 3" "SUMO specific peptidases|Large ribosomal subunit biogenesis complex" "984|1301" 2004-03-11 2018-02-23 2023-01-20 26168 ENSG00000161956 OTTHUMG00000178333 uc032esp.2 AK000923 NM_015670 CCDS73958 Q9H4L4 "10806345|11230166" MGI:2158736 RGD:1312040 612844 C48.003 3.4.22.68 HGNC:17862 "ENST00000321337.12|NM_015670.6" HGNC:49182 SENP3-EIF4A1 SENP3-EIF4A1 readthrough (NMD candidate) other readthrough Approved 17p13.1 17p13.1 2013-09-25 2013-09-25 2015-01-30 100533955 ENSG00000277957 OTTHUMG00000178334 NR_037926 HGNC:49182 HGNC:28407 SENP5 SUMO specific peptidase 5 protein-coding gene gene with protein product Approved 3q29 03q29 MGC27076 "SUMO1/sentrin specific protease 5|SUMO1/sentrin specific peptidase 5" SUMO specific peptidases 984 2004-02-20 2018-02-23 2023-01-20 205564 ENSG00000119231 OTTHUMG00000155527 uc003fwz.5 BC030705 NM_152699 "CCDS77876|CCDS3322" Q96HI0 16738315 MGI:2443596 RGD:1304604 612845 C48.008 3.4.22.68 HGNC:28407 "ENST00000323460.10|NM_152699.5" -HGNC:20944 SENP6 SUMO specific peptidase 6 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "SUSP1|KIAA0797" "SUMO1/sentrin specific protease 6|SUMO1/sentrin specific peptidase 6" SUMO specific peptidases 984 2004-03-11 2018-02-23 2023-01-20 26054 ENSG00000112701 OTTHUMG00000015060 uc003pie.5 NM_015571 "CCDS43483|CCDS78158|CCDS47454" Q9GZR1 MGI:1922075 RGD:1304565 605003 C48.004 objectId:2415 3.4.22.68 HGNC:20944 "ENST00000447266.7|NM_015571.4" -HGNC:30402 SENP7 SUMO specific peptidase 7 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "SUMO1/sentrin specific protease 7|SUMO1/sentrin specific peptidase 7" SUMO specific peptidases 984 2004-02-20 2018-02-23 2023-01-20 57337 ENSG00000138468 OTTHUMG00000149927 uc003dut.5 NM_020654 "CCDS63706|CCDS2941|CCDS63705|CCDS63704|CCDS43121" Q9BQF6 "11214970|11230166" MGI:1913565 RGD:1305510 612846 C48.009 objectId:2416 HGNC:30402 "ENST00000394095.7|NM_020654.5" +HGNC:20944 SENP6 SUMO specific peptidase 6 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "SUSP1|KIAA0797" "SUMO1/sentrin specific protease 6|SUMO1/sentrin specific peptidase 6" SUMO specific peptidases 984 2004-03-11 2018-02-23 2023-01-20 26054 ENSG00000112701 OTTHUMG00000015060 uc003pie.5 NM_015571 "CCDS78158|CCDS43483|CCDS47454" Q9GZR1 MGI:1922075 RGD:1304565 605003 C48.004 objectId:2415 3.4.22.68 HGNC:20944 "ENST00000447266.7|NM_015571.4" +HGNC:30402 SENP7 SUMO specific peptidase 7 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "SUMO1/sentrin specific protease 7|SUMO1/sentrin specific peptidase 7" SUMO specific peptidases 984 2004-02-20 2018-02-23 2023-01-20 57337 ENSG00000138468 OTTHUMG00000149927 uc003dut.5 NM_020654 "CCDS63705|CCDS63706|CCDS63704|CCDS2941|CCDS43121" Q9BQF6 "11214970|11230166" MGI:1913565 RGD:1305510 612846 C48.009 objectId:2416 HGNC:30402 "ENST00000394095.7|NM_020654.5" HGNC:22992 SENP8 SUMO peptidase family member, NEDD8 specific protein-coding gene gene with protein product Approved 15q23 15q23 "NEDP1|DEN1|HsT17512" "NEDD8-specific protease 1|sentrin/SUMO-specific protease SENP8|deneddylase 1" PRSC2 "protease, cysteine, 2 (NEDD8 specific)|SUMO/sentrin specific protease family member 8|SUMO/sentrin specific peptidase family member 8|SUMO/sentrin peptidase family member, NEDD8 specific" SUMO specific peptidases 984 2003-09-02 2004-01-30 2018-02-23 2023-01-20 123228 ENSG00000166192 OTTHUMG00000133441 uc021spq.2 BC031411 NM_145204 CCDS10240 Q96LD8 "12730221|12759362" MGI:1918849 RGD:1309955 608659 objectId:2417 HGNC:22992 "ENST00000340912.6|NM_145204.4" -HGNC:19685 SEPHS1 selenophosphate synthetase 1 protein-coding gene gene with protein product Approved 10p13 10p13 "SPS|SPS1" selenide, water dikinase 2003-11-06 2023-01-20 22929 ENSG00000086475 OTTHUMG00000017696 uc001imk.4 BC000941 NM_012247 "CCDS7098|CCDS55703|CCDS55702" P49903 7665581 MGI:1923580 RGD:1311182 600902 HGNC:19685 "ENST00000327347.10|NM_012247.5" +HGNC:19685 SEPHS1 selenophosphate synthetase 1 protein-coding gene gene with protein product Approved 10p13 10p13 "SPS|SPS1" selenide, water dikinase 2003-11-06 2023-01-20 22929 ENSG00000086475 OTTHUMG00000017696 uc001imk.4 BC000941 NM_012247 "CCDS7098|CCDS55702|CCDS55703" P49903 7665581 MGI:1923580 RGD:1311182 600902 HGNC:19685 "ENST00000327347.10|NM_012247.5" HGNC:42161 SEPHS1P1 selenophosphate synthetase 1 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2011-06-06 2014-11-18 168474 ENSG00000182722 OTTHUMG00000156602 NR_002789 PGOHUM00000232829 HGNC:42161 HGNC:42162 SEPHS1P2 selenophosphate synthetase 1 pseudogene 2 pseudogene pseudogene Approved 15q26.1 15q26.1 2011-06-06 2018-10-03 100420292 ENSG00000258787 OTTHUMG00000171794 NG_025354 PGOHUM00000246933 HGNC:42162 HGNC:42163 SEPHS1P3 selenophosphate synthetase 1 pseudogene 3 pseudogene pseudogene Approved 5q35.2 05q35.2 2011-06-06 2018-10-03 100420189 NG_024643 PGOHUM00000300828 HGNC:42163 @@ -34891,17 +34894,17 @@ HGNC:42168 SEPHS1P6 selenophosphate synthetase 1 pseudogene 6 pseudogene pseudog HGNC:42167 SEPHS1P7 selenophosphate synthetase 1 pseudogene 7 pseudogene pseudogene Approved 2q14.1 02q14.1 2011-06-06 2014-11-19 391428 ENSG00000231926 OTTHUMG00000153272 NG_021519 PGOHUM00000240268 HGNC:42167 HGNC:19686 SEPHS2 selenophosphate synthetase 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "SPS2|SPS2b" selenoprotein SEPHS2 Selenoproteins 890 2003-12-19 2023-01-20 22928 ENSG00000179918 OTTHUMG00000176988 uc284nvr.1 BC002381 NM_012248 CCDS42150 Q99611 10608886 MGI:108388 RGD:1308827 606218 HGNC:19686 "ENST00000478753.5|NM_012248.4" HGNC:42165 SEPHS2P1 selenophosphate synthetase 2 pseudogene 1 pseudogene pseudogene Approved 5p15.2 05p15.2 SEPHS1P5 selenophosphate synthetase 1 pseudogene 5 2011-06-06 2013-08-19 2013-08-19 2014-11-18 100420190 ENSG00000250247 OTTHUMG00000161763 NG_024654 PGOHUM00000235507 HGNC:42165 -HGNC:30605 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "SLA/LP|SLA|SLA-p35|SecS" "soluble liver antigen/liver pancreas antigen|O-phosphoseryl-tRNA(Sec) selenium transferase" 2007-05-01 2023-01-20 51091 ENSG00000109618 OTTHUMG00000128563 uc003grg.4 AJ238617 NM_016955 "CCDS93487|CCDS3432" Q9HD40 "16230358|10931155|17142313|17194211|19608919" MGI:1098791 RGD:1589491 613009 251270 2.9.1.2 HGNC:30605 "ENST00000382103.7|NM_016955.4" HGNC:30605 +HGNC:30605 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "SLA/LP|SLA|SLA-p35|SecS" "soluble liver antigen/liver pancreas antigen|O-phosphoseryl-tRNA(Sec) selenium transferase" 2007-05-01 2023-01-20 51091 ENSG00000109618 OTTHUMG00000128563 uc003grg.4 AJ238617 NM_016955 "CCDS3432|CCDS93487" Q9HD40 "16230358|10931155|17142313|17194211|19608919" MGI:1098791 RGD:1589491 613009 251270 2.9.1.2 HGNC:30605 "ENST00000382103.7|NM_016955.4" HGNC:30605 HGNC:27737 SEPSECS-AS1 SEPSECS antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 4p15.2 04p15.2 Antisense RNAs 1987 2013-10-09 2017-10-26 285540 ENSG00000281501 OTTHUMG00000189520 AK095450 NR_037934 SEPSECS-AS1 HGNC:27737 HGNC:2879 SEPTIN1 septin 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 PNUTL3 "DIFF6|SEPT1" Septins 732 1996-04-17 2019-04-04 2023-01-20 1731 ENSG00000180096 OTTHUMG00000176984 uc002dxy.5 AF308288 NM_052838 Q8WYJ6 8697812 MGI:1858916 RGD:1307216 612897 3.1.5.1 HGNC:2879 "ENST00000321367.8|NM_001365977.2" -HGNC:7729 SEPTIN2 septin 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "KIAA0158|hNedd5|Pnutl3" "DIFF6|NEDD5|SEPT2" neural precursor cell expressed, developmentally down-regulated 5 Septins 732 1994-01-21 2019-04-04 2005-01-11 2023-01-20 4735 ENSG00000168385 OTTHUMG00000133394 uc002wbd.5 D28540 NM_006155 "CCDS2548|CCDS63195|CCDS74682|CCDS86930" Q15019 8697812 MGI:97298 RGD:620056 601506 HGNC:7729 "ENST00000391971.7|NM_004404.5" +HGNC:7729 SEPTIN2 septin 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "KIAA0158|hNedd5|Pnutl3" "DIFF6|NEDD5|SEPT2" neural precursor cell expressed, developmentally down-regulated 5 Septins 732 1994-01-21 2019-04-04 2005-01-11 2023-01-20 4735 ENSG00000168385 OTTHUMG00000133394 uc002wbd.5 D28540 NM_006155 "CCDS86930|CCDS74682|CCDS63195|CCDS2548" Q15019 8697812 MGI:97298 RGD:620056 601506 HGNC:7729 "ENST00000391971.7|NM_004404.5" HGNC:40017 SEPTIN2P1 septin 2 pseudogene 1 pseudogene pseudogene Approved 1p21.1 01p21.1 SEPT2P1 2011-05-03 2019-04-04 2019-04-04 100873333 ENSG00000227850 OTTHUMG00000011007 NG_032370 PGOHUM00000244828 HGNC:40017 -HGNC:10750 SEPTIN3 septin 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "SEP3|SEPT3" Septins 732 2000-07-31 2019-04-04 2023-03-15 55964 ENSG00000100167 OTTHUMG00000030494 uc003bbr.5 AF285107 NM_145734 "CCDS14027|CCDS14026|CCDS87030" Q9UH03 MGI:1345148 RGD:621745 608314 HGNC:10750 "ENST00000644076.2|NM_001363845.2" -HGNC:9165 SEPTIN4 septin 4 protein-coding gene gene with protein product Approved 17q22 17q22 "H5|CE5B3|hucep-7|ARTS|hCDCREL-2|MART|FLJ40121" "bradeoin|septin-M" "PNUTL2|C17orf47|SEPT4" "peanut-like 2 (Drosophila)|chromosome 17 open reading frame 47" Septins 732 1998-07-15 2019-04-04 2005-01-11 2023-01-20 5414 ENSG00000108387 OTTHUMG00000179243 uc010wnx.3 AF073312 NM_080417 "CCDS11610|CCDS32691|CCDS58581|CCDS45743|CCDS86620|CCDS58582|CCDS92368|CCDS11609|CCDS56041" O43236 9889007 MGI:1270156 RGD:1308781 603696 HGNC:9165 "ENST00000672673.2|NM_001368771.2" +HGNC:10750 SEPTIN3 septin 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "SEP3|SEPT3" Septins 732 2000-07-31 2019-04-04 2023-03-15 55964 ENSG00000100167 OTTHUMG00000030494 uc003bbr.5 AF285107 NM_145734 "CCDS87030|CCDS14026|CCDS14027" Q9UH03 MGI:1345148 RGD:621745 608314 HGNC:10750 "ENST00000644076.2|NM_001363845.2" +HGNC:9165 SEPTIN4 septin 4 protein-coding gene gene with protein product Approved 17q22 17q22 "H5|CE5B3|hucep-7|ARTS|hCDCREL-2|MART|FLJ40121" "bradeoin|septin-M" "PNUTL2|C17orf47|SEPT4" "peanut-like 2 (Drosophila)|chromosome 17 open reading frame 47" Septins 732 1998-07-15 2019-04-04 2005-01-11 2023-01-20 5414 ENSG00000108387 OTTHUMG00000179243 uc010wnx.3 AF073312 NM_080417 "CCDS56041|CCDS45743|CCDS86620|CCDS11609|CCDS11610|CCDS58582|CCDS32691|CCDS92368|CCDS58581" O43236 9889007 MGI:1270156 RGD:1308781 603696 HGNC:9165 "ENST00000672673.2|NM_001368771.2" HGNC:51345 SEPTIN4-AS1 SEPTIN4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q22 17q22 SEPT4-AS1 SEPT4 antisense RNA 1 Antisense RNAs 1987 2014-10-10 2019-04-04 2019-12-10 2019-12-10 101927688 ENSG00000264672 OTTHUMG00000179242 "CK429595|BX092197|BQ072540" NR_110810 SEPT4-AS1 HGNC:51345 -HGNC:9164 SEPTIN5 septin 5 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "HCDCREL-1|H5" "PNUTL1|SEPT5" peanut-like 1 (Drosophila) Septins 732 1998-07-15 2019-04-04 2005-01-11 2023-01-20 5413 ENSG00000184702 OTTHUMG00000150399 uc002zpv.3 Y11593 NM_002688 "CCDS13764|CCDS56224" Q99719 "9385360|9611266" MGI:1195461 RGD:621763 602724 HGNC:9164 "ENST00000455784.7|NM_002688.6" -HGNC:15848 SEPTIN6 septin 6 protein-coding gene gene with protein product Approved Xq24 Xq24 "KIAA0128|SEP2|SEPT2|MGC16619|MGC20339" SEPT6 "Septins|MicroRNA protein coding host genes" "732|1691" 2004-01-29 2019-04-04 2023-01-20 23157 ENSG00000125354 OTTHUMG00000022280 uc004ert.4 D50918 NM_145802 "CCDS14583|CCDS14584|CCDS94661|CCDS14585" Q14141 "8590280|10744683" MGI:1888939 RGD:1585082 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SEPT6 300683 HGNC:15848 "ENST00000394610.7|NM_145799.4" -HGNC:1717 SEPTIN7 septin 7 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 "CDC3|SEPT7A" "CDC10|SEPT7" CDC10 cell division cycle 10 homolog (S. cerevisiae) Septins 732 1995-02-08 2019-04-04 2005-01-11 2023-01-20 989 ENSG00000122545 OTTHUMG00000155063 uc064ctx.2 S72008 NM_001788 "CCDS94085|CCDS87494|CCDS94086|CCDS75582" Q16181 8037772 MGI:1335094 RGD:620469 603151 HGNC:1717 "ENST00000350320.11|NM_001788.6" +HGNC:9164 SEPTIN5 septin 5 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "HCDCREL-1|H5" "PNUTL1|SEPT5" peanut-like 1 (Drosophila) Septins 732 1998-07-15 2019-04-04 2005-01-11 2023-01-20 5413 ENSG00000184702 OTTHUMG00000150399 uc002zpv.3 Y11593 NM_002688 "CCDS56224|CCDS13764" Q99719 "9385360|9611266" MGI:1195461 RGD:621763 602724 HGNC:9164 "ENST00000455784.7|NM_002688.6" +HGNC:15848 SEPTIN6 septin 6 protein-coding gene gene with protein product Approved Xq24 Xq24 "KIAA0128|SEP2|SEPT2|MGC16619|MGC20339" SEPT6 "Septins|MicroRNA protein coding host genes" "732|1691" 2004-01-29 2019-04-04 2023-01-20 23157 ENSG00000125354 OTTHUMG00000022280 uc004ert.4 D50918 NM_145802 "CCDS94661|CCDS14583|CCDS14585|CCDS14584" Q14141 "8590280|10744683" MGI:1888939 RGD:1585082 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SEPT6 300683 HGNC:15848 "ENST00000394610.7|NM_145799.4" +HGNC:1717 SEPTIN7 septin 7 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 "CDC3|SEPT7A" "CDC10|SEPT7" CDC10 cell division cycle 10 homolog (S. cerevisiae) Septins 732 1995-02-08 2019-04-04 2005-01-11 2023-01-20 989 ENSG00000122545 OTTHUMG00000155063 uc064ctx.2 S72008 NM_001788 "CCDS94085|CCDS94086|CCDS75582|CCDS87494" Q16181 8037772 MGI:1335094 RGD:620469 603151 HGNC:1717 "ENST00000350320.11|NM_001788.6" HGNC:51153 SEPTIN7-DT SEPTIN7 divergent transcript non-coding RNA RNA, long non-coding Approved 7p14.2 07p14.2 "SEPT7-AS1|SEPTIN7-AS1" SEPT7 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-07-30 2019-12-11 2019-12-11 2019-12-11 101928545 ENSG00000228878 OTTHUMG00000155061 NR_120511 SEPT7-AS1 HGNC:51153 HGNC:19926 SEPTIN7P1 septin 7 pseudogene 1 pseudogene pseudogene Approved 14q13.2 14q13.2 "CDC10P|SEPT7P1" CDC10 cell division cycle 10 homolog (S. cerevisiae) pseudogene 2003-01-13 2019-04-04 2010-03-24 2019-04-04 317774 ENSG00000259090 OTTHUMG00000171026 NG_002472 PGOHUM00000292321 HGNC:19926 HGNC:32339 SEPTIN7P2 septin 7 pseudogene 2 pseudogene pseudogene Approved 7p12.3 07p12.3 DKFZp313J1114 "SEPT7B|SEPT13|SEPT7P2" "septin 7B|septin 13" 2005-10-13 2019-04-04 2010-03-24 2020-04-20 641977 ENSG00000214765 OTTHUMG00000155423 AL133216 NR_024271 15915442 611563 HGNC:32339 @@ -34918,13 +34921,13 @@ HGNC:55091 SEPTIN7P12 septin 7 pseudogene 12 pseudogene pseudogene Approved 17q2 HGNC:55092 SEPTIN7P13 septin 7 pseudogene 13 pseudogene pseudogene Approved 1q42.11 01q42.11 2020-06-19 2020-06-19 100287497 ENSG00000185495 NR_136590 PGOHUM00000296783 HGNC:44219 SEPTIN7P14 septin 7 pseudogene 14 pseudogene pseudogene Approved 4q26 04q26 2020-06-19 2020-06-19 645513 ENSG00000245958 OTTHUMG00000160571 NR_037630 HGNC:55096 SEPTIN7P15 septin 7 pseudogene 15 pseudogene pseudogene Approved 7p11.2 07p11.2 2020-06-19 2020-09-08 100418714 ENSG00000275061 NG_026471 PGOHUM00000302196 -HGNC:16511 SEPTIN8 septin 8 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0202|SEP2" SEPT8 Septins 732 2004-01-29 2019-04-04 2023-01-20 23176 ENSG00000164402 OTTHUMG00000059735 uc003kxs.2 AF179995 NM_001098811 "CCDS43358|CCDS43359|CCDS75298|CCDS43360|CCDS47262" Q92599 "9039502|9149945" MGI:894310 RGD:1308449 608418 HGNC:16511 "ENST00000378719.7|NM_001098811.2" -HGNC:7323 SEPTIN9 septin 9 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MSF1|KIAA0991|PNUTL4|AF17q25|SeptD1" Ov/Br septin "MSF|SEPT9" MLL septin-like fusion Septins 732 2000-02-28 2019-04-04 2005-01-11 2023-01-20 10801 ENSG00000184640 OTTHUMG00000177327 uc002jts.5 AB023208 NM_006640 "CCDS77122|CCDS45795|CCDS45790|CCDS45791|CCDS45792|CCDS45793|CCDS74166" Q9UHD8 "10339604|10485469" MGI:1858222 RGD:708523 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_370|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_370.xml" 604061 117605 HGNC:7323 "ENST00000427177.6|NM_001113491.2" +HGNC:16511 SEPTIN8 septin 8 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0202|SEP2" SEPT8 Septins 732 2004-01-29 2019-04-04 2023-01-20 23176 ENSG00000164402 OTTHUMG00000059735 uc003kxs.2 AF179995 NM_001098811 "CCDS75298|CCDS47262|CCDS43358|CCDS43360|CCDS43359" Q92599 "9039502|9149945" MGI:894310 RGD:1308449 608418 HGNC:16511 "ENST00000378719.7|NM_001098811.2" +HGNC:7323 SEPTIN9 septin 9 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MSF1|KIAA0991|PNUTL4|AF17q25|SeptD1" Ov/Br septin "MSF|SEPT9" MLL septin-like fusion Septins 732 2000-02-28 2019-04-04 2005-01-11 2023-01-20 10801 ENSG00000184640 OTTHUMG00000177327 uc002jts.5 AB023208 NM_006640 "CCDS45792|CCDS74166|CCDS77122|CCDS45790|CCDS45795|CCDS45791|CCDS45793" Q9UHD8 "10339604|10485469" MGI:1858222 RGD:708523 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_370|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_370.xml" 604061 117605 HGNC:7323 "ENST00000427177.6|NM_001113491.2" HGNC:52818 SEPTIN9-DT SEPTIN9 divergent transcript non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Divergent transcripts 1990 2019-06-17 2019-06-17 105371907 ENSG00000263718 OTTHUMG00000177704 NR_136503 HGNC:52818 -HGNC:14349 SEPTIN10 septin 10 protein-coding gene gene with protein product Approved 2q13 02q13 FLJ11619 sept1-like SEPT10 Septins 732 2003-05-12 2019-04-04 2023-01-20 151011 ENSG00000186522 OTTHUMG00000154957 uc002tex.5 AF146760 NM_144710 "CCDS82496|CCDS82497|CCDS46383|CCDS42726" Q9P0V9 12711328 MGI:1918110 RGD:1359307 611737 HGNC:14349 "ENST00000397712.7|NM_144710.5" +HGNC:14349 SEPTIN10 septin 10 protein-coding gene gene with protein product Approved 2q13 02q13 FLJ11619 sept1-like SEPT10 Septins 732 2003-05-12 2019-04-04 2023-01-20 151011 ENSG00000186522 OTTHUMG00000154957 uc002tex.5 AF146760 NM_144710 "CCDS82496|CCDS46383|CCDS42726|CCDS82497" Q9P0V9 12711328 MGI:1918110 RGD:1359307 611737 HGNC:14349 "ENST00000397712.7|NM_144710.5" HGNC:40018 SEPTIN10P1 septin 10 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 SEPT10P1 2011-05-03 2019-04-04 2019-04-04 389662 ENSG00000253541 OTTHUMG00000164411 NG_022390 PGOHUM00000303215 HGNC:40018 -HGNC:25589 SEPTIN11 septin 11 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 FLJ10849 SEPT11 Septins 732 2004-06-22 2019-04-04 2023-01-20 55752 ENSG00000138758 OTTHUMG00000160854 uc003hkj.4 AK001711 NM_018243 "CCDS34018|CCDS77931" Q9NVA2 "14999297|15140406" MGI:1277214 RGD:1307405 612887 HGNC:25589 "ENST00000264893.11|NM_018243.4" -HGNC:26348 SEPTIN12 septin 12 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ25410 SEPT12 Septins 732 2006-11-13 2019-04-04 2023-01-20 124404 ENSG00000140623 OTTHUMG00000129481 uc002cxq.4 AK058139 NM_144605 "CCDS53987|CCDS10522" Q8IYM1 "14611653|15915442" MGI:1918339 RGD:1565511 611562 408642 HGNC:26348 "ENST00000268231.13|NM_144605.5" HGNC:26348 +HGNC:25589 SEPTIN11 septin 11 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 FLJ10849 SEPT11 Septins 732 2004-06-22 2019-04-04 2023-01-20 55752 ENSG00000138758 OTTHUMG00000160854 uc003hkj.4 AK001711 NM_018243 "CCDS77931|CCDS34018" Q9NVA2 "14999297|15140406" MGI:1277214 RGD:1307405 612887 HGNC:25589 "ENST00000264893.11|NM_018243.4" +HGNC:26348 SEPTIN12 septin 12 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ25410 SEPT12 Septins 732 2006-11-13 2019-04-04 2023-01-20 124404 ENSG00000140623 OTTHUMG00000129481 uc002cxq.4 AK058139 NM_144605 "CCDS10522|CCDS53987" Q8IYM1 "14611653|15915442" MGI:1918339 RGD:1565511 611562 408642 HGNC:26348 "ENST00000268231.13|NM_144605.5" HGNC:26348 HGNC:33280 SEPTIN14 septin 14 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 FLJ44060 SEPT14 Septins 732 2007-05-01 2019-04-04 2023-01-20 346288 ENSG00000154997 OTTHUMG00000129341 uc003tqz.2 AK126048 NM_207366 CCDS5519 Q6ZU15 MGI:1921472 RGD:1596186 612140 369815 HGNC:33280 "ENST00000388975.4|NM_207366.3" HGNC:51685 SEPTIN14P1 septin 14 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 SEPT14P1 2015-05-08 2019-04-04 2019-04-04 106480340 ENSG00000231523 OTTHUMG00000156275 NG_044583 PGOHUM00000302217 HGNC:51685 HGNC:51686 SEPTIN14P2 septin 14 pseudogene 2 pseudogene pseudogene Approved 2q37.3 02q37.3 SEPT14P2 2015-05-08 2019-04-04 2019-04-04 107105263 ENSG00000244528 OTTHUMG00000152146 NG_046580 PGOHUM00000306038 HGNC:51686 @@ -34950,25 +34953,25 @@ HGNC:51708 SEPTIN14P22 septin 14 pseudogene 22 pseudogene pseudogene Approved Yq HGNC:51709 SEPTIN14P23 septin 14 pseudogene 23 pseudogene pseudogene Approved Yq11.23 Yq11.23 NCRNA00266Y2 "SEPT14P23|LINC00266-4P|NCRNA00266D|NCRNA00266-4P" "long intergenic non-protein coding RNA 266-4, pseudogene|non-protein coding RNA 266D|non-protein coding RNA 266-4, pseudogene" 2015-05-08 2019-04-04 2022-01-10 107126290 ENSG00000228786 NR_174182 PGOHUM00000306206 HGNC:51709 HGNC:51710 SEPTIN14P24 septin 14 pseudogene 24 pseudogene pseudogene Approved 7p11.2 07p11.2 SEPT14P24 2015-05-08 2019-04-04 2019-04-04 106480345 ENSG00000231299 OTTHUMG00000156225 NG_044627 PGOHUM00000302158 HGNC:51710 HGNC:21061 SERAC1 serine active site containing 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 FLJ14917 Armadillo like helical domain containing 1492 2003-05-12 2023-01-20 84947 ENSG00000122335 OTTHUMG00000015905 uc003qrc.3 BC001705 NM_032861 CCDS5255 Q96JX3 22683713 MGI:2447813 RGD:1565064 614725 356228 HGNC:21061 "ENST00000647468.2|NM_032861.4" HGNC:21061 -HGNC:17860 SERBP1 SERPINE1 mRNA binding protein 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "PAI-RBP1|DKFZP564M2423|CGI-55|HABP4L|PAIRBP1|CHD3IP" 2005-09-15 2023-01-20 26135 ENSG00000142864 OTTHUMG00000009372 uc001ddy.4 AF151813 NM_001018067 "CCDS30747|CCDS639|CCDS30748|CCDS30746" Q8NC51 "11001948|10810093|18440126|17698176" MGI:1914120 RGD:619907 607378 HGNC:17860 "ENST00000361219.11|NM_001018069.2" +HGNC:17860 SERBP1 SERPINE1 mRNA binding protein 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "PAI-RBP1|DKFZP564M2423|CGI-55|HABP4L|PAIRBP1|CHD3IP" 2005-09-15 2023-01-20 26135 ENSG00000142864 OTTHUMG00000009372 uc001ddy.4 AF151813 NM_001018067 "CCDS30746|CCDS30748|CCDS30747|CCDS639" Q8NC51 "11001948|10810093|18440126|17698176" MGI:1914120 RGD:619907 607378 HGNC:17860 "ENST00000361219.11|NM_001018069.2" HGNC:32247 SERBP1P1 SERPINE1 mRNA binding protein 1 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 SERBP1P SERPINE1 mRNA binding protein 1 pseudogene 2005-09-15 2009-12-17 2009-12-17 2012-11-21 389866 ENSG00000213740 OTTHUMG00000021750 NG_005103 PGOHUM00000241829 HGNC:32247 HGNC:23967 SERBP1P2 SERPINE1 mRNA binding protein 1 pseudogene 2 pseudogene pseudogene Approved Yp11.2 Yp11.2 PAI 1 mRNA binding protein pseudogene 2009-12-17 2014-11-19 359996 ENSG00000225878 OTTHUMG00000036215 NG_002917 12815422 PGOHUM00000233670 HGNC:23967 HGNC:44630 SERBP1P3 SERPINE1 mRNA binding protein 1 pseudogene 3 pseudogene pseudogene Approved 3p21.1 03p21.1 2012-11-23 2012-11-23 553148 ENSG00000242142 OTTHUMG00000159077 NG_005109 PGOHUM00000237630 HGNC:44630 HGNC:44631 SERBP1P4 SERPINE1 mRNA binding protein 1 pseudogene 4 pseudogene pseudogene Approved Xq21.31 Xq21.31 2012-11-23 2012-11-23 100132591 ENSG00000230275 OTTHUMG00000021962 NG_022620 PGOHUM00000241442 HGNC:44631 HGNC:44632 SERBP1P5 SERPINE1 mRNA binding protein 1 pseudogene 5 pseudogene pseudogene Approved 4q21.21 04q21.21 2012-11-23 2012-11-23 442112 ENSG00000249565 OTTHUMG00000160901 NG_005107 PGOHUM00000245605 HGNC:44632 HGNC:44635 SERBP1P6 SERPINE1 mRNA binding protein 1 pseudogene 6 pseudogene pseudogene Approved 5p13.1 05p13.1 2012-11-23 2012-11-23 2014-02-12 100420450 ENSG00000248873 OTTHUMG00000162137 NG_011688 PGOHUM00000235205 HGNC:44635 -HGNC:10755 SERF1A small EDRK-rich factor 1A protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "H4F5|4F5|FAM2A|SMAM1" "SMA modifier 1|spinal muscular atrophy-related gene H4F5" SERF1 small EDRK-rich factor 1A (telomeric) 1999-06-01 2016-06-06 2023-01-20 8293 ENSG00000172058 OTTHUMG00000162419 uc003mqa.4 AF073518 NM_021967 "CCDS47229|CCDS47228" O75920 9731538 MGI:1337114 RGD:1565105 603011 HGNC:10755 "ENST00000317633.14|NM_022968.2" +HGNC:10755 SERF1A small EDRK-rich factor 1A protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "H4F5|4F5|FAM2A|SMAM1" "SMA modifier 1|spinal muscular atrophy-related gene H4F5" SERF1 small EDRK-rich factor 1A (telomeric) 1999-06-01 2016-06-06 2023-01-20 8293 ENSG00000172058 OTTHUMG00000162419 uc003mqa.4 AF073518 NM_021967 "CCDS47228|CCDS47229" O75920 9731538 MGI:1337114 RGD:1565105 603011 HGNC:10755 "ENST00000317633.14|NM_022968.2" HGNC:44061 SERF1AP1 small EDRK-rich factor 1A pseudogene 1 pseudogene pseudogene Approved 4q28.3 04q28.3 small EDRK-rich factor 1A (telomeric) pseudogene 1 2012-05-30 2016-06-06 2016-06-06 100131921 ENSG00000250813 OTTHUMG00000161250 NG_030215 PGOHUM00000245705 HGNC:44061 -HGNC:10756 SERF1B small EDRK-rich factor 1B protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "FAM2B|H4F5C" small EDRK-rich factor 1B (centromeric) 2000-09-01 2016-06-06 2023-01-20 728492 ENSG00000205572 OTTHUMG00000162391 uc003jxz.4 NM_022978 "CCDS54866|CCDS43326" O75920 MGI:1337114 HGNC:10756 "ENST00000380750.8|NM_022978.3" -HGNC:10757 SERF2 small EDRK-rich factor 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "H4F5rel|4F5REL|FAM2C|HsT17089" 1999-06-01 2023-03-15 10169 ENSG00000140264 OTTHUMG00000059935 uc001zsz.5 AF073298 NM_005770 "CCDS55964|CCDS32218|CCDS55965|CCDS55963" P84101 9731538 MGI:1337041 RGD:1588368 605054 HGNC:10757 "ENST00000249786.9|NM_001018108.4" +HGNC:10756 SERF1B small EDRK-rich factor 1B protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "FAM2B|H4F5C" small EDRK-rich factor 1B (centromeric) 2000-09-01 2016-06-06 2023-01-20 728492 ENSG00000205572 OTTHUMG00000162391 uc003jxz.4 NM_022978 "CCDS43326|CCDS54866" O75920 MGI:1337114 HGNC:10756 "ENST00000380750.8|NM_022978.3" +HGNC:10757 SERF2 small EDRK-rich factor 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "H4F5rel|4F5REL|FAM2C|HsT17089" 1999-06-01 2023-03-15 10169 ENSG00000140264 OTTHUMG00000059935 uc001zsz.5 AF073298 NM_005770 "CCDS55963|CCDS55965|CCDS32218|CCDS55964" P84101 9731538 MGI:1337041 RGD:1588368 605054 HGNC:10757 "ENST00000249786.9|NM_001018108.4" HGNC:17499 SERGEF secretion regulating guanine nucleotide exchange factor protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "DelGEF|Gnefr" 2006-02-22 2023-01-20 26297 ENSG00000129158 OTTHUMG00000166420 uc001mnm.5 AJ243950 NM_012139 CCDS7828 Q9UGK8 "10571079|12459492" MGI:1351630 RGD:1563497 606051 HGNC:17499 "ENST00000265965.10|NM_012139.4" HGNC:14408 SERHL serine hydrolase like (pseudogene) pseudogene pseudogene Approved 22q13.2 22q13.2 "HS126B42|BK126B4.1|dJ222E13.1" kraken-like serine hydrolase-like 2001-02-08 2019-02-18 2023-03-15 94009 ENSG00000172250 OTTHUMG00000150888 uc011apl.3 AL365513 NR_027786 Q9NQF3 11352564 MGI:1890404 607979 S33.012 HGNC:14408 HGNC:29446 SERHL2 serine hydrolase like 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 2005-04-05 2017-02-21 2023-01-20 253190 ENSG00000183569 OTTHUMG00000150892 uc003bcr.5 NM_014509 "CCDS14037|CCDS63498" Q9H4I8 MGI:1890404 RGD:1563386 619045 HGNC:29446 "ENST00000327678.10|NM_014509.5" HGNC:13464 SERINC1 serine incorporator 1 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "TMS-2|TDE1L|KIAA1253" TDE2 tumor differentially expressed 2 2003-08-21 2005-10-14 2005-10-14 2023-01-20 57515 ENSG00000111897 OTTHUMG00000015487 uc003pyy.2 AF087902 NM_020755 CCDS5125 Q9NRX5 10637174 MGI:1926228 RGD:727843 614548 HGNC:13464 "ENST00000339697.5|NM_020755.4" -HGNC:23231 SERINC2 serine incorporator 2 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "FKSG84|PRO0899|TDE2" TDE2L tumor differentially expressed 2-like 2003-10-23 2005-11-01 2005-11-01 2023-01-20 347735 ENSG00000168528 OTTHUMG00000003796 uc001bst.4 AY094595 NM_018565 "CCDS55585|CCDS30662|CCDS55584|CCDS55583" Q96SA4 12949800 MGI:1919132 RGD:1311396 614549 HGNC:23231 "ENST00000373709.8|NM_178865.5" +HGNC:23231 SERINC2 serine incorporator 2 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "FKSG84|PRO0899|TDE2" TDE2L tumor differentially expressed 2-like 2003-10-23 2005-11-01 2005-11-01 2023-01-20 347735 ENSG00000168528 OTTHUMG00000003796 uc001bst.4 AY094595 NM_018565 "CCDS30662|CCDS55583|CCDS55585|CCDS55584" Q96SA4 12949800 MGI:1919132 RGD:1311396 614549 HGNC:23231 "ENST00000373709.8|NM_178865.5" HGNC:11699 SERINC3 serine incorporator 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "DIFF33|TDE|SBBI99|TMS-1|AIGP1" TDE1 tumor differentially expressed 1 1999-12-07 2005-11-15 2005-11-15 2023-01-20 10955 ENSG00000132824 OTTHUMG00000033087 uc002xme.4 U49188 NM_006811 CCDS13333 Q13530 10559794 MGI:1349457 RGD:1308390 607165 HGNC:11699 "ENST00000342374.5|NM_006811.4" HGNC:32237 SERINC4 serine incorporator 4 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 FLJ40363 2005-09-06 2023-03-15 619189 ENSG00000184716 OTTHUMG00000060144 uc031qrp.2 DQ103711 NM_001258031 CCDS58360 A6NH21 MGI:2441842 RGD:1566077 614550 HGNC:32237 "ENST00000319327.7|NM_001258031.2" -HGNC:18825 SERINC5 serine incorporator 5 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 TPO1 C5orf12 chromosome 5 open reading frame 12 2002-07-22 2005-10-14 2005-10-14 2023-01-20 256987 ENSG00000164300 OTTHUMG00000162563 uc011ctj.2 AF498273 NM_178276 "CCDS54874|CCDS83009" Q86VE9 12688535 MGI:2444223 RGD:621571 614551 HGNC:18825 "ENST00000507668.7|NM_001174072.3" +HGNC:18825 SERINC5 serine incorporator 5 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 TPO1 C5orf12 chromosome 5 open reading frame 12 2002-07-22 2005-10-14 2005-10-14 2023-01-20 256987 ENSG00000164300 OTTHUMG00000162563 uc011ctj.2 AF498273 NM_178276 "CCDS83009|CCDS54874" Q86VE9 12688535 MGI:2444223 RGD:621571 614551 HGNC:18825 "ENST00000507668.7|NM_001174072.3" HGNC:10759 SERP1 stress associated endoplasmic reticulum protein 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "RAMP4|FLJ43424" ribosome associated membrane protein 4 1988-01-18 2016-08-09 2023-01-20 27230 ENSG00000120742 OTTHUMG00000159769 uc062ozv.1 AK125413 NM_014445 CCDS3150 Q9Y6X1 "10601334|11230166" MGI:92638 RGD:620790 617674 HGNC:10759 "ENST00000239944.7|NM_014445.4" HGNC:20607 SERP2 stress associated endoplasmic reticulum protein family member 2 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 bA269C23.1 C13orf21 chromosome 13 open reading frame 21 2004-04-16 2007-12-07 2016-08-09 2023-01-20 387923 ENSG00000151778 OTTHUMG00000016833 uc001uzj.3 BC029067 NM_001010897 CCDS31965 Q8N6R1 MGI:1919911 RGD:1566076 HGNC:20607 "ENST00000379179.8|NM_001010897.3" HGNC:8941 SERPINA1 serpin family A member 1 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "AAT|A1A|PI1|alpha-1-antitrypsin|A1AT|alpha1AT" "protease inhibitor 1|anti-elastase|alpha-1 antitrypsin|alpha-1 proteinase inhibitor" PI "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1" Serpin peptidase inhibitors 739 1986-01-01 2016-04-06 2023-01-20 5265 ENSG00000197249 OTTHUMG00000150355 uc010auy.3 X01683 NM_001002235 CCDS9925 P01009 24172014 "MGI:891967|MGI:891968|MGI:891969|MGI:891970|MGI:891971" RGD:3326 LRG_575|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_575.xml 107400 118602 I04.001 HGNC:8941 "ENST00000393087.9|NM_000295.5" HGNC:8941 @@ -34979,7 +34982,7 @@ HGNC:8723 SERPINA5 serpin family A member 5 protein-coding gene gene with protei HGNC:1540 SERPINA6 serpin family A member 6 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "corticosteroid binding globulin|transcortin" CBG "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6" Serpin peptidase inhibitors 739 1991-08-08 2016-04-06 2023-01-20 866 ENSG00000170099 OTTHUMG00000171346 uc001ycv.4 J02943 NM_001756 CCDS9924 P08185 "3299377|7912884|24172014" MGI:88278 RGD:1595901 122500 201291 I04.954 HGNC:1540 "ENST00000341584.4|NM_001756.4" HGNC:1540 HGNC:11583 SERPINA7 serpin family A member 7 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "thyroxin-binding globulin|thyroxine-binding globulin|alpha-1 antiproteinase, antitrypsin" TBG "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7" Serpin peptidase inhibitors 739 1986-01-01 2016-04-06 2023-01-20 6906 ENSG00000123561 OTTHUMG00000022144 uc004eme.3 M14091 NM_000354 CCDS14518 P05543 24172014 MGI:3041197 RGD:619833 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SERPINA7 314200 212874 I04.955 HGNC:11583 "ENST00000372563.2|NM_000354.6" HGNC:44398 SERPINA7P1 serpin family A member 7 pseudogene 1 pseudogene pseudogene Approved Xq22.3 Xq22.3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 pseudogene 1 2014-02-14 2016-04-06 2016-04-06 100422644 ENSG00000227657 OTTHUMG00000022149 NG_026747 24172014 PGOHUM00000241493 HGNC:44398 -HGNC:15995 SERPINA9 serpin family A member 9 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "SERPINA11b|GCET1" Centerin "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9" Serpin peptidase inhibitors 739 2001-06-27 2016-04-06 2023-01-20 327657 ENSG00000170054 OTTHUMG00000167710 uc001ydf.4 AY185497 NM_175739 "CCDS41982|CCDS91925|CCDS61542|CCDS41983" Q86WD7 24172014 MGI:1919157 RGD:1304789 615677 I04.082 HGNC:15995 "ENST00000674397.2|NM_175739.4" +HGNC:15995 SERPINA9 serpin family A member 9 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "SERPINA11b|GCET1" Centerin "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9" Serpin peptidase inhibitors 739 2001-06-27 2016-04-06 2023-01-20 327657 ENSG00000170054 OTTHUMG00000167710 uc001ydf.4 AY185497 NM_175739 "CCDS41982|CCDS41983|CCDS61542|CCDS91925" Q86WD7 24172014 MGI:1919157 RGD:1304789 615677 I04.082 HGNC:15995 "ENST00000674397.2|NM_175739.4" HGNC:15996 SERPINA10 serpin family A member 10 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "PZI|ZPI" Protein-Z dependent proteinase inhibitor "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10" Serpin peptidase inhibitors 739 2001-06-27 2016-04-06 2023-01-20 51156 ENSG00000140093 OTTHUMG00000171345 uc001ycu.6 AF181467 NM_016186 CCDS9923 Q9UK55 "10460162|9689066|24172014" MGI:2667725 RGD:621220 LRG_576|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_576.xml 605271 462050 I04.005 HGNC:15996 "ENST00000261994.9|NM_001100607.3" HGNC:19193 SERPINA11 serpin family A member 11 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11" Serpin peptidase inhibitors 739 2004-05-21 2016-04-06 2023-01-20 256394 ENSG00000186910 OTTHUMG00000171348 uc001ydd.2 BX248259 NM_001080451 CCDS32149 Q86U17 "15014966|24172014" MGI:2685741 RGD:1359239 619619 HGNC:19193 "ENST00000334708.4|NM_001080451.2" HGNC:18359 SERPINA12 serpin family A member 12 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "OL-64|Vaspin" visceral adipose tissue-derived serine protease inhibitor "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12" Serpin peptidase inhibitors 739 2004-05-21 2016-04-06 2023-01-20 145264 ENSG00000165953 OTTHUMG00000171349 uc001ydj.3 AY177692 NM_173850 CCDS9926 Q8IW75 "24172014|26199422" MGI:1915304 RGD:708485 617471 I04.091 HGNC:18359 "ENST00000677451.1|NM_001382267.1" HGNC:18359 @@ -34990,22 +34993,22 @@ HGNC:8584 SERPINB2 serpin family B member 2 protein-coding gene gene with protei HGNC:10569 SERPINB3 serpin family B member 3 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "T4-A|HsT1196" "SCC|SCCA1" "squamous cell carcinoma antigen 1|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3|serpin peptidase inhibitor, clade B (ovalbumin), member 3" Serpin peptidase inhibitors 739 1995-08-15 2016-04-06 2023-01-20 6317 ENSG00000057149 OTTHUMG00000060403 uc002lji.3 U19568 NM_006919 CCDS11987 P29508 "7724531|24172014" "MGI:1277952|MGI:2683293|MGI:2683295|MGI:3573933" RGD:1549766 600517 I04.008 HGNC:10569 "ENST00000283752.10|NM_006919.3" HGNC:10570 SERPINB4 serpin family B member 4 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "PI11|LEUPIN|SCCA-2|SCCA1" SCCA2 "squamous cell carcinoma antigen 2|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4|serpin peptidase inhibitor, clade B (ovalbumin), member 4" Serpin peptidase inhibitors 739 1995-09-15 2016-04-06 2023-01-20 6318 ENSG00000206073 OTTHUMG00000060405 uc002ljf.4 X89015 NM_175041 CCDS11986 P48594 "7724531|14630915|24172014" "MGI:1277952|MGI:2683293|MGI:2683295|MGI:3573933" RGD:1562868 600518 I04.009 HGNC:10570 "ENST00000341074.10|NM_002974.4" HGNC:8949 SERPINB5 serpin family B member 5 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 maspin protease inhibitor 5 (maspin) PI5 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5|serpin peptidase inhibitor, clade B (ovalbumin), member 5" Serpin peptidase inhibitors 739 1994-06-20 2016-04-06 2023-01-20 5268 ENSG00000206075 OTTHUMG00000141307 uc002liz.5 U04313 NM_002639 CCDS32839 P36952 "8290962|7724531|16720730|24172014" MGI:109579 RGD:69342 154790 I04.980 HGNC:8949 "ENST00000382771.9|NM_002639.5" -HGNC:8950 SERPINB6 serpin family B member 6 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "PTI|CAP" "cytoplasmic antiproteinase|placental thrombin inhibitor" "PI6|DFNB91" "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6|deafness, autosomal recessive 91|serpin peptidase inhibitor, clade B (ovalbumin), member 6" Serpin peptidase inhibitors 739 1994-07-20 2016-04-06 2023-01-20 5269 ENSG00000124570 OTTHUMG00000016170 uc003muo.4 Z22658 NM_001195291 "CCDS75387|CCDS93850|CCDS4479|CCDS75386" P35237 "8415716|9858835|20451170|24172014" "MGI:103123|MGI:2145481|MGI:2667778|MGI:2667783|MGI:894688" RGD:735108 173321 233019 I04.011 HGNC:8950 "ENST00000380539.7|NM_004568.6" HGNC:8950 -HGNC:13902 SERPINB7 serpin family B member 7 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 megsin "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7|serpin peptidase inhibitor, clade B (ovalbumin), member 7" Serpin peptidase inhibitors 739 2000-11-21 2016-04-06 2023-01-20 8710 ENSG00000166396 OTTHUMG00000060591 uc002ljl.4 AF027866 NM_003784 "CCDS11988|CCDS58633" O75635 24172014 MGI:2151053 RGD:71063 603357 371936 I04.012 HGNC:13902 "ENST00000398019.7|NM_003784.4" HGNC:13902 -HGNC:8952 SERPINB8 serpin family B member 8 protein-coding gene gene with protein product Approved 18q22.1 18q22.1 CAP2 cytoplasmic antiproteinase 2 PI8 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8|serpin peptidase inhibitor, clade B (ovalbumin), member 8" Serpin peptidase inhibitors 739 1995-07-21 2016-04-06 2023-01-20 5271 ENSG00000166401 OTTHUMG00000060596 uc002lju.4 L40377 NM_001031848 "CCDS62460|CCDS42442|CCDS86678|CCDS11991" P50452 "8530382|9268635|24172014" MGI:894657 RGD:1309833 601697 465986 I04.013 HGNC:8952 "ENST00000397985.7|NM_002640.4" HGNC:8952 +HGNC:8950 SERPINB6 serpin family B member 6 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "PTI|CAP" "cytoplasmic antiproteinase|placental thrombin inhibitor" "PI6|DFNB91" "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6|deafness, autosomal recessive 91|serpin peptidase inhibitor, clade B (ovalbumin), member 6" Serpin peptidase inhibitors 739 1994-07-20 2016-04-06 2023-01-20 5269 ENSG00000124570 OTTHUMG00000016170 uc003muo.4 Z22658 NM_001195291 "CCDS75386|CCDS75387|CCDS4479|CCDS93850" P35237 "8415716|9858835|20451170|24172014" "MGI:103123|MGI:2145481|MGI:2667778|MGI:2667783|MGI:894688" RGD:735108 173321 233019 I04.011 HGNC:8950 "ENST00000380539.7|NM_004568.6" HGNC:8950 +HGNC:13902 SERPINB7 serpin family B member 7 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 megsin "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7|serpin peptidase inhibitor, clade B (ovalbumin), member 7" Serpin peptidase inhibitors 739 2000-11-21 2016-04-06 2023-01-20 8710 ENSG00000166396 OTTHUMG00000060591 uc002ljl.4 AF027866 NM_003784 "CCDS58633|CCDS11988" O75635 24172014 MGI:2151053 RGD:71063 603357 371936 I04.012 HGNC:13902 "ENST00000398019.7|NM_003784.4" HGNC:13902 +HGNC:8952 SERPINB8 serpin family B member 8 protein-coding gene gene with protein product Approved 18q22.1 18q22.1 CAP2 cytoplasmic antiproteinase 2 PI8 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8|serpin peptidase inhibitor, clade B (ovalbumin), member 8" Serpin peptidase inhibitors 739 1995-07-21 2016-04-06 2023-01-20 5271 ENSG00000166401 OTTHUMG00000060596 uc002lju.4 L40377 NM_001031848 "CCDS86678|CCDS11991|CCDS42442|CCDS62460" P50452 "8530382|9268635|24172014" MGI:894657 RGD:1309833 601697 465986 I04.013 HGNC:8952 "ENST00000397985.7|NM_002640.4" HGNC:8952 HGNC:8953 SERPINB8P1 serpin family B member 8 pseudogene 1 pseudogene pseudogene Approved 6p25.2 06p25.2 "PI8L1|SERPINB11|SERPINBP1" "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin) pseudogene 1|serpin peptidase inhibitor, clade B (ovalbumin) pseudogene 1|serpin peptidase inhibitor, clade B8 (ovalbumin) pseudogene 1" 1999-08-20 2010-02-02 2016-04-06 2016-04-06 11029 ENSG00000217707 OTTHUMG00000014133 NG_002645 "10644448|24172014" PGOHUM00000243470 HGNC:8953 HGNC:8955 SERPINB9 serpin family B member 9 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 CAP3 cytoplasmic antiproteinase 3 PI9 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9|serpin peptidase inhibitor, clade B (ovalbumin), member 9" Serpin peptidase inhibitors 739 1995-07-21 2016-04-06 2023-01-20 5272 ENSG00000170542 OTTHUMG00000014131 uc003mug.5 L40378 NM_004155 CCDS4478 P50453 "8530382|9858835|24172014" "MGI:106603|MGI:1919260|MGI:3709608|MGI:894667|MGI:894668|MGI:894669|MGI:894671|MGI:894672" RGD:1549730 601799 I04.014 HGNC:8955 "ENST00000380698.5|NM_004155.6" HGNC:56120 SERPINB9-AS1 SERPINB9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.2 06p25.2 Antisense RNAs 1987 2022-01-07 2022-01-07 101927730 NR_110841 HGNC:28590 SERPINB9P1 serpin family B member 9 pseudogene 1 pseudogene pseudogene Approved 6p25.2 06p25.2 MGC39372 serpin peptidase inhibitor, clade B (ovalbumin), member 9, pseudogene 1 2014-02-14 2016-04-06 2016-04-06 221756 ENSG00000230438 OTTHUMG00000014127 BC025340 NR_033851 24172014 PGOHUM00000243041 HGNC:28590 HGNC:8942 SERPINB10 serpin family B member 10 protein-coding gene gene with protein product Approved 18q21.3 18q21.3 "protease inhibitor 10 (ovalbumin type)|bomapin" PI10 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10|serpin peptidase inhibitor, clade B (ovalbumin), member 10" Serpin peptidase inhibitors 739 1995-09-13 2016-04-06 2023-01-20 5273 ENSG00000242550 OTTHUMG00000060594 uc010xev.3 U35459 NM_005024 CCDS11990 P48595 "9268635|10871600|24172014" MGI:2138648 RGD:628853 602058 I04.015 HGNC:8942 "ENST00000238508.8|NM_005024.3" HGNC:14221 SERPINB11 serpin family B member 11 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 epipin "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11|serpin peptidase inhibitor, clade B (ovalbumin), member 11|serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)|serpin family B member 11 (gene/pseudogene)" Serpin peptidase inhibitors 739 2001-06-27 2020-05-01 2023-03-15 89778 ENSG00000206072 OTTHUMG00000060404 uc032hfq.2 NM_080475 CCDS77196 Q96P15 "17562709|24172014" MGI:1914207 RGD:1306497 615682 I04.956 HGNC:14221 "ENST00000544088.6|NM_001370475.1" -HGNC:14220 SERPINB12 serpin family B member 12 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 yukopin "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12|serpin peptidase inhibitor, clade B (ovalbumin), member 12" Serpin peptidase inhibitors 739 2001-06-27 2016-04-06 2023-01-20 89777 ENSG00000166634 OTTHUMG00000132789 uc010xen.2 AF411191 NM_080474 "CCDS11984|CCDS77194" Q96P63 24172014 MGI:1919119 RGD:1566382 615662 I04.016 HGNC:14220 "ENST00000382768.2|NM_001307928.2" +HGNC:14220 SERPINB12 serpin family B member 12 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 yukopin "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12|serpin peptidase inhibitor, clade B (ovalbumin), member 12" Serpin peptidase inhibitors 739 2001-06-27 2016-04-06 2023-01-20 89777 ENSG00000166634 OTTHUMG00000132789 uc010xen.2 AF411191 NM_080474 "CCDS77194|CCDS11984" Q96P63 24172014 MGI:1919119 RGD:1566382 615662 I04.016 HGNC:14220 "ENST00000382768.2|NM_001307928.2" HGNC:8944 SERPINB13 serpin family B member 13 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 HUR7 "hurpin|headpin" PI13 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13|serpin peptidase inhibitor, clade B (ovalbumin), member 13" Serpin peptidase inhibitors 739 1995-12-20 2016-04-06 2023-01-20 5275 ENSG00000197641 OTTHUMG00000060406 uc002ljc.4 "AF169949|BC101821" NM_012397 "CCDS77195|CCDS11985" Q9UIV8 "9297979|10512713|24172014" MGI:3042250 RGD:1304661 604445 I04.017 HGNC:8944 "ENST00000344731.10|NM_012397.4" HGNC:775 SERPINC1 serpin family C member 1 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "ATIII|MGC22579" "antithrombin III|signal peptide antithrombin part 1|coding sequence signal peptide antithrombin part 1|antithrombin (aa 375-432)" AT3 "serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1|serpin peptidase inhibitor, clade C (antithrombin), member 1" Serpin peptidase inhibitors 739 1986-01-01 2016-04-06 2023-01-20 462 ENSG00000117601 OTTHUMG00000037276 uc001gjt.4 X68793 NM_000488 CCDS1313 P01008 "3979120|24172014" MGI:88095 RGD:1307404 "Antithrombin III mutation database|http://www1.imperial.ac.uk/departmentofmedicine/divisions/experimentalmedicine/haematology/coag/antithrombin/|LRG_577|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_577.xml" 107300 118609 I04.018 objectId:2632 HGNC:775 "ENST00000367698.4|NM_000488.4" HGNC:775 HGNC:4838 SERPIND1 serpin family D member 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "HC-II|HLS2|HC2|D22S673" "heparin cofactor II|heparin cofactor 2" HCF2 "serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1|serpin peptidase inhibitor, clade D (heparin cofactor), member 1" Serpin peptidase inhibitors 739 1988-05-31 2016-04-06 2023-01-20 3053 ENSG00000099937 OTTHUMG00000150755 uc002ztb.2 M12849 NM_000185 CCDS13783 P05546 "1671335|24172014" MGI:96051 RGD:619854 LRG_594|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_594.xml 142360 I04.019 HGNC:4838 "ENST00000215727.10|NM_000185.4" HGNC:4838 HGNC:8583 SERPINE1 serpin family E member 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 PAI plasminogen activator inhibitor, type I "PLANH1|PAI1" serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 Serpin peptidase inhibitors 739 1986-01-01 2016-04-06 2023-03-15 5054 ENSG00000106366 OTTHUMG00000157107 uc003uxt.4 M16006 NM_000602 CCDS5711 P05121 "3097076|2891140|24172014" MGI:97608 RGD:3249 LRG_597|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_597.xml 173360 118613 I04.020 HGNC:8583 "ENST00000223095.5|NM_000602.5" HGNC:8583 -HGNC:8951 SERPINE2 serpin family E member 2 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "PN1|GDN|PNI|nexin" glial-derived nexin 1 PI7 "serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2|serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2" Serpin peptidase inhibitors 739 1994-09-01 2016-04-06 2023-01-20 5270 ENSG00000135919 OTTHUMG00000133163 uc002vnu.3 M17783 NM_006216 "CCDS46525|CCDS46526|CCDS2460" P07093 "7665170|24172014" MGI:101780 RGD:3748 LRG_645|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_645.xml 177010 471042 I04.021 HGNC:8951 "ENST00000409304.6|NM_001136528.2" -HGNC:24774 SERPINE3 serpin family E member 3 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 Serpin peptidase inhibitors 739 2008-09-05 2016-04-06 2023-01-20 647174 ENSG00000253309 OTTHUMG00000016943 uc058xdi.1 AX772926 NM_001101320 "CCDS91808|CCDS53870" A8MV23 24172014 MGI:2442020 RGD:1585042 I04.972 HGNC:24774 "ENST00000681248.1|NM_001386375.1" +HGNC:8951 SERPINE2 serpin family E member 2 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "PN1|GDN|PNI|nexin" glial-derived nexin 1 PI7 "serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2|serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2" Serpin peptidase inhibitors 739 1994-09-01 2016-04-06 2023-01-20 5270 ENSG00000135919 OTTHUMG00000133163 uc002vnu.3 M17783 NM_006216 "CCDS46525|CCDS2460|CCDS46526" P07093 "7665170|24172014" MGI:101780 RGD:3748 LRG_645|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_645.xml 177010 471042 I04.021 HGNC:8951 "ENST00000409304.6|NM_001136528.2" +HGNC:24774 SERPINE3 serpin family E member 3 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 Serpin peptidase inhibitors 739 2008-09-05 2016-04-06 2023-01-20 647174 ENSG00000253309 OTTHUMG00000016943 uc058xdi.1 AX772926 NM_001101320 "CCDS53870|CCDS91808" A8MV23 24172014 MGI:2442020 RGD:1585042 I04.972 HGNC:24774 "ENST00000681248.1|NM_001386375.1" HGNC:44400 SERPINE4P serpin family E member 4, pseudogene pseudogene pseudogene Approved 15q12 15q12 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 4 pseudogene 2014-02-14 2016-04-06 2016-04-06 101930745 ENSG00000258624 OTTHUMG00000171826 NG_033925 24172014 PGOHUM00000247016 HGNC:44400 HGNC:8824 SERPINF1 serpin family F member 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "EPC-1|PIG35" "alpha-2 antiplasmin|proliferation-inducing protein 35" PEDF "serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1|pigment epithelium-derived factor" Serpin peptidase inhibitors 739 1993-05-18 2016-04-12 2023-01-20 5176 ENSG00000132386 OTTHUMG00000090571 uc002ftl.4 M76979 NM_002615 CCDS11012 P36955 "8434014|24172014" MGI:108080 RGD:631369 SERPINF1 variant database|https://oi.gene.le.ac.uk/home.php?select_db=SERPINF1 172860 265490 I04.979 HGNC:8824 "ENST00000254722.9|NM_002615.7" HGNC:8824 HGNC:9075 SERPINF2 serpin family F member 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "API|ALPHA-2-PI|A2AP|AAP|alpha2AP" "alpha-2-plasmin inhibitor|alpha-2-antiplasmin" PLI "serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2|serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2" Serpin peptidase inhibitors 739 1989-04-14 2016-04-06 2023-01-20 5345 ENSG00000167711 OTTHUMG00000090552 uc002ftk.1 D00174 NM_000934 "CCDS11011|CCDS54064" P08697 "3416655|24172014" MGI:107173 RGD:1306692 LRG_885|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_885.xml 613168 201277 I04.023 HGNC:9075 "ENST00000453066.6|NM_000934.4" HGNC:9075 @@ -35023,27 +35026,27 @@ HGNC:32019 SERTAD4-AS1 SERTAD4 antisense RNA 1 non-coding RNA RNA, long non-codi HGNC:44296 SERTAD4BP SERTA domain containing 4B, pseudogene pseudogene pseudogene Approved 14q23.2 14q23.2 LINC00643 long intergenic non-protein coding RNA 643 2012-08-08 2022-06-17 2022-06-17 2022-06-28 646113 ENSG00000186369 OTTHUMG00000171566 uc059cgy.1 NR_015358 MGI:1921534 LINC00643 HGNC:44296 HGNC:33792 SERTM1 serine rich and transmembrane domain containing 1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 C13orf36 "chromosome 13 open reading frame 36|serine-rich and transmembrane domain containing 1" 2008-06-11 2011-08-09 2016-02-01 2023-01-20 400120 ENSG00000180440 OTTHUMG00000016735 uc001uvt.5 NM_203451 CCDS9358 A2A2V5 MGI:3607715 RGD:1597355 HGNC:33792 "ENST00000315190.4|NM_203451.3" HGNC:48576 SERTM2 serine rich and transmembrane domain containing 2 protein-coding gene gene with protein product Approved Xq23 Xq23 LINC00890 long intergenic non-protein coding RNA 890 2013-05-17 2017-08-16 2017-08-16 2023-01-20 401613 ENSG00000260802 OTTHUMG00000173027 NM_001354473 CCDS94655 A0A1B0GWG4 28587571 MGI:2442684 RGD:7673510 LINC00890 HGNC:48576 "ENST00000569275.2|NM_001354473.2" -HGNC:21595 SESN1 sestrin 1 protein-coding gene gene with protein product Approved 6q21 06q21 "SEST1|PA26" 2003-09-03 2023-01-20 27244 ENSG00000080546 OTTHUMG00000015338 uc003psu.4 AF033120 NM_014454 "CCDS56445|CCDS56444|CCDS5070" Q9Y6P5 "9926927|7938006" MGI:2155278 RGD:1307517 606103 471044 HGNC:21595 "ENST00000436639.7|NM_014454.3" +HGNC:21595 SESN1 sestrin 1 protein-coding gene gene with protein product Approved 6q21 06q21 "SEST1|PA26" 2003-09-03 2023-01-20 27244 ENSG00000080546 OTTHUMG00000015338 uc003psu.4 AF033120 NM_014454 "CCDS5070|CCDS56445|CCDS56444" Q9Y6P5 "9926927|7938006" MGI:2155278 RGD:1307517 606103 471044 HGNC:21595 "ENST00000436639.7|NM_014454.3" HGNC:20746 SESN2 sestrin 2 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "SES2|DKFZp761M0212|HI95|SEST2" 2003-09-03 2023-01-20 83667 ENSG00000130766 OTTHUMG00000003532 uc001bps.4 AY123223 NM_031459 CCDS321 P58004 "12607115|12203114" MGI:2651874 RGD:1566319 607767 HGNC:20746 "ENST00000253063.4|NM_031459.5" HGNC:23060 SESN3 sestrin 3 protein-coding gene gene with protein product Approved 11q21 11q21 "SEST3|MGC29667" 2003-09-03 2023-01-20 143686 ENSG00000149212 OTTHUMG00000167829 uc001pfj.6 AK096300 NM_144665 "CCDS60938|CCDS8303" P58005 12607115 MGI:1922997 RGD:1309470 607768 HGNC:23060 "ENST00000536441.7|NM_144665.4" HGNC:18379 SESTD1 SEC14 and spectrin domain containing 1 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "DKFZp434O0515|Solo" SEC14 and spectrin domains 1 2002-07-04 2015-11-18 2023-01-20 91404 ENSG00000187231 OTTHUMG00000154554 uc002uni.5 AK096232 NM_178123 CCDS33338 Q86VW0 12837271 MGI:1916262 RGD:1562244 471046 HGNC:18379 "ENST00000428443.8|NM_178123.5" -HGNC:10760 SET SET nuclear proto-oncogene protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "PHAPII|2PP2A|IPP2A2|TAF-IBETA|IGAAD|TAF-I" "protein phosphatase type 2A inhibitor|Template-Activating Factor-I|chromatin remodelling factor|HLA-DR-associated protein II|inhibitor of granzyme A-activated DNase" SET translocation (myeloid leukemia-associated) "INHAT complex|SET complex" "1658|1659" 1998-04-20 2014-06-25 2023-01-20 6418 ENSG00000119335 OTTHUMG00000020755 uc004bvu.5 M93651 NM_001122821 "CCDS59149|CCDS6907|CCDS59150|CCDS48037" Q01105 "1630450|8626647" MGI:1860267 RGD:41368318 SET 600960 HGNC:10760 "ENST00000322030.13|NM_003011.4" HGNC:10760 -HGNC:15573 SETBP1 SET binding protein 1 protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "SEB|KIAA0437" 2001-06-05 2023-01-20 26040 ENSG00000152217 OTTHUMG00000132613 uc010dni.3 AB022660 NM_001130110 "CCDS92452|CCDS11923|CCDS45859" Q9Y6X0 "11231286|23222956" MGI:1933199 RGD:1306229 LRG_1150|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1150.xml SETBP1 611060 231397 HGNC:15573 "ENST00000649279.2|NM_015559.3" HGNC:15573 +HGNC:10760 SET SET nuclear proto-oncogene protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "PHAPII|2PP2A|IPP2A2|TAF-IBETA|IGAAD|TAF-I" "protein phosphatase type 2A inhibitor|Template-Activating Factor-I|chromatin remodelling factor|HLA-DR-associated protein II|inhibitor of granzyme A-activated DNase" SET translocation (myeloid leukemia-associated) "INHAT complex|SET complex" "1658|1659" 1998-04-20 2014-06-25 2023-01-20 6418 ENSG00000119335 OTTHUMG00000020755 uc004bvu.5 M93651 NM_001122821 "CCDS6907|CCDS48037|CCDS59149|CCDS59150" Q01105 "1630450|8626647" MGI:1860267 RGD:41368318 SET 600960 HGNC:10760 "ENST00000322030.13|NM_003011.4" HGNC:10760 +HGNC:15573 SETBP1 SET binding protein 1 protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "SEB|KIAA0437" 2001-06-05 2023-01-20 26040 ENSG00000152217 OTTHUMG00000132613 uc010dni.3 AB022660 NM_001130110 "CCDS11923|CCDS92452|CCDS45859" Q9Y6X0 "11231286|23222956" MGI:1933199 RGD:1306229 LRG_1150|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1150.xml SETBP1 611060 231397 HGNC:15573 "ENST00000649279.2|NM_015559.3" HGNC:15573 HGNC:54819 SETBP1-DT SETBP1 divergent transcript non-coding RNA RNA, long non-coding Approved 18q12.3 18q12.3 Divergent transcripts 1990 2020-01-17 2020-07-16 101927943 ENSG00000267414 XR_007088368 32079618 HGNC:29010 SETD1A SET domain containing 1A, histone lysine methyltransferase protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "KIAA0339|Set1|KMT2F|SET1A" SET domain containing 1A "Lysine methyltransferases|RNA binding motif containing|SET domain containing" "487|725|1399" 2006-02-15 2018-12-21 2023-01-20 9739 ENSG00000099381 OTTHUMG00000150474 uc002ead.2 AB002337 NM_014712 CCDS32435 O15047 "9205841|12670868" MGI:2446244 RGD:1311624 611052 objectId:2700 HGNC:29010 "ENST00000262519.14|NM_014712.3" HGNC:29010 HGNC:29187 SETD1B SET domain containing 1B, histone lysine methyltransferase protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA1076|Set1B|KMT2G" SET domain containing 1B "Lysine methyltransferases|RNA binding motif containing|SET domain containing" "487|725|1399" 2006-02-15 2018-12-21 2023-03-15 23067 ENSG00000139718 OTTHUMG00000169080 uc058ujh.1 AB028999 NM_001353345 CCDS86338 Q9UPS6 "10470851|17355966" MGI:2652820 RGD:2323325 611055 objectId:2701 HGNC:29187 "ENST00000604567.6|NM_001353345.2" HGNC:29187 -HGNC:18420 SETD2 SET domain containing 2, histone lysine methyltransferase protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "HYPB|HIF-1|KIAA1732|FLJ23184|KMT3A" SET domain containing 2 "Lysine methyltransferases|SET domain containing" "487|1399" 2006-02-15 2018-12-21 2023-03-15 29072 ENSG00000181555 OTTHUMG00000133514 uc003cqs.4 AJ238403 NM_014159 "CCDS2749|CCDS93261" Q9BYW2 "16118227|11461154" MGI:1918177 RGD:1305576 LRG_775|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_775.xml SETD2 612778 412839 objectId:2702 HGNC:18420 "ENST00000409792.4|NM_014159.7" HGNC:18420 -HGNC:20493 SETD3 SET domain containing 3, actin N3(tau)-histidine methyltransferase protein-coding gene gene with protein product Approved 14q32.2 14q32.2 FLJ23027 C14orf154 "chromosome 14 open reading frame 154|SET domain containing 3|SET domain containing 3, actin histidine methyltransferase" SET domain containing 1399 2004-06-11 2006-02-15 2023-05-23 2023-05-23 84193 ENSG00000183576 OTTHUMG00000028970 uc001ygc.4 AK026680 NM_032233 "CCDS9951|CCDS9952" Q86TU7 "30526847|31911441|30626964" MGI:1289184 RGD:1309550 615671 HGNC:20493 "ENST00000331768.10|NM_032233.3" -HGNC:1258 SETD4 SET domain containing 4 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 "C21orf27|C21orf18" "chromosome 21 open reading frame 27|chromosome 21 open reading frame 18" SET domain containing 1399 2000-05-23 2006-02-15 2006-02-15 2023-01-20 54093 ENSG00000185917 OTTHUMG00000086483 uc021wiy.3 AK001660 NM_017438 "CCDS74791|CCDS13640|CCDS74792|CCDS42923" Q9NVD3 "24738023|28031330" MGI:2136890 RGD:619899 HGNC:1258 "ENST00000332131.9|NM_017438.5" +HGNC:18420 SETD2 SET domain containing 2, histone lysine methyltransferase protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "HYPB|HIF-1|KIAA1732|FLJ23184|KMT3A" SET domain containing 2 "Lysine methyltransferases|SET domain containing" "487|1399" 2006-02-15 2018-12-21 2023-03-15 29072 ENSG00000181555 OTTHUMG00000133514 uc003cqs.4 AJ238403 NM_014159 "CCDS93261|CCDS2749" Q9BYW2 "16118227|11461154" MGI:1918177 RGD:1305576 LRG_775|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_775.xml SETD2 612778 412839 objectId:2702 HGNC:18420 "ENST00000409792.4|NM_014159.7" HGNC:18420 +HGNC:20493 SETD3 SET domain containing 3, actin N3(tau)-histidine methyltransferase protein-coding gene gene with protein product Approved 14q32.2 14q32.2 FLJ23027 C14orf154 "chromosome 14 open reading frame 154|SET domain containing 3|SET domain containing 3, actin histidine methyltransferase" SET domain containing 1399 2004-06-11 2006-02-15 2023-05-23 2023-05-23 84193 ENSG00000183576 OTTHUMG00000028970 uc001ygc.4 AK026680 NM_032233 "CCDS9952|CCDS9951" Q86TU7 "30526847|31911441|30626964" MGI:1289184 RGD:1309550 615671 HGNC:20493 "ENST00000331768.10|NM_032233.3" +HGNC:1258 SETD4 SET domain containing 4 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 "C21orf27|C21orf18" "chromosome 21 open reading frame 27|chromosome 21 open reading frame 18" SET domain containing 1399 2000-05-23 2006-02-15 2006-02-15 2023-01-20 54093 ENSG00000185917 OTTHUMG00000086483 uc021wiy.3 AK001660 NM_017438 "CCDS13640|CCDS74791|CCDS42923|CCDS74792" Q9NVD3 "24738023|28031330" MGI:2136890 RGD:619899 HGNC:1258 "ENST00000332131.9|NM_017438.5" HGNC:40104 SETD4-AS1 SETD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 Antisense RNAs 1987 2020-03-19 2020-03-19 105369295 ENSG00000236677 OTTHUMG00000086615 HGNC:25566 SETD5 SET domain containing 5 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "FLJ10707|SETD5A" SET domain containing 1399 2006-02-15 2023-03-15 55209 ENSG00000168137 OTTHUMG00000150491 uc003brt.3 BC020956 NM_001080517 CCDS46741 Q9C0A6 "11214970|27864380" MGI:1920145 RGD:1310433 615743 406882 HGNC:25566 "ENST00000402198.7|NM_001080517.3" HGNC:25566 HGNC:26116 SETD6 SET domain containing 6, protein lysine methyltransferase protein-coding gene gene with protein product Approved 16q21 16q21 FLJ21148 SET domain containing 6 SET domain containing 1399 2006-02-15 2018-12-21 2023-01-20 79918 ENSG00000103037 OTTHUMG00000150276 uc002enr.4 AK024801 NM_024860 "CCDS54013|CCDS10798" Q8TBK2 21131967 MGI:1913333 RGD:1560538 616424 HGNC:26116 "ENST00000219315.9|NM_001160305.4" HGNC:26116 HGNC:51596 SETD6P1 SET domain containing 6 pseudogene 1 pseudogene pseudogene Approved 2q12.3 02q12.3 2015-03-12 2020-04-06 106481727 ENSG00000236877 OTTHUMG00000184506 NG_045049 PGOHUM00000298058 HGNC:51596 -HGNC:30412 SETD7 SET domain containing 7, histone lysine methyltransferase protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "KIAA1717|SET7|SET7/9|Set9|KMT7" SET domain containing lysine methyltransferase 7 "Lysine methyltransferases|SET domain containing" "487|1399" 2006-02-15 2018-12-21 2023-01-20 80854 ENSG00000145391 OTTHUMG00000133385 uc003ihw.4 AB051504 NM_030648 "CCDS82956|CCDS77961|CCDS3748" Q8WTS6 "11850410|11779497" MGI:1920501 RGD:1586346 606594 objectId:2703 HGNC:30412 "ENST00000274031.8|NM_030648.4" +HGNC:30412 SETD7 SET domain containing 7, histone lysine methyltransferase protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "KIAA1717|SET7|SET7/9|Set9|KMT7" SET domain containing lysine methyltransferase 7 "Lysine methyltransferases|SET domain containing" "487|1399" 2006-02-15 2018-12-21 2023-01-20 80854 ENSG00000145391 OTTHUMG00000133385 uc003ihw.4 AB051504 NM_030648 "CCDS77961|CCDS82956|CCDS3748" Q8WTS6 "11850410|11779497" MGI:1920501 RGD:1586346 606594 objectId:2703 HGNC:30412 "ENST00000274031.8|NM_030648.4" HGNC:28508 SETD9 SET domain containing 9 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 MGC33648 C5orf35 chromosome 5 open reading frame 35 SET domain containing 1399 2006-10-31 2012-02-23 2012-02-23 2023-01-20 133383 ENSG00000155542 OTTHUMG00000059485 uc003jqx.4 BC036528 NM_153706 "CCDS3972|CCDS93713" Q8NE22 20930037 RGD:2318781 HGNC:28508 "ENST00000285947.5|NM_153706.4" -HGNC:10761 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KG1T|KIAA0067|ESET|KMT1E|TDRD21" tudor domain containing 21 "SET domain, bifurcated 1|SET domain bifurcated 1" "Lysine methyltransferases|Tudor domain containing|Methyl-CpG binding domain containing|SET domain containing" "487|780|1025|1399" 1999-07-19 2018-12-21 2023-01-20 9869 ENSG00000143379 OTTHUMG00000035003 uc001evv.3 D31891 NM_001145415 "CCDS91050|CCDS972|CCDS91051|CCDS58026|CCDS44217" Q15047 10343109 MGI:1934229 RGD:1308370 604396 objectId:2705 HGNC:10761 "ENST00000692827.1|NM_001366418.1" -HGNC:20263 SETDB2 SET domain bifurcated histone lysine methyltransferase 2 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "CLLD8|CLLL8|KMT1F" C13orf4 "chromosome 13 open reading frame 4|SET domain, bifurcated 2|SET domain bifurcated 2" "Lysine methyltransferases|Methyl-CpG binding domain containing|SET domain containing" "487|1025|1399" 2003-01-16 2003-05-09 2018-12-21 2023-01-20 83852 ENSG00000136169 OTTHUMG00000016918 uc001vcz.4 AF334407 NM_031915 "CCDS9417|CCDS53868" Q96T68 11306461 MGI:2685139 RGD:2319564 607865 objectId:2706 HGNC:20263 "ENST00000611815.2|NM_001160308.3" -HGNC:10762 SETMAR SET domain and mariner transposase fusion gene protein-coding gene gene with protein product Approved 3p26.1 03p26.1 metnase "SET domain containing|DNA transposon derived genes" "1399|1415" 1997-11-20 2023-01-20 6419 ENSG00000170364 OTTHUMG00000090265 uc011asp.3 U80776 NM_006515 "CCDS63528|CCDS58814|CCDS2563" Q53H47 9461395 MGI:1921979 RGD:1565882 609834 HGNC:10762 "ENST00000358065.5|NM_006515.4" +HGNC:10761 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KG1T|KIAA0067|ESET|KMT1E|TDRD21" tudor domain containing 21 "SET domain, bifurcated 1|SET domain bifurcated 1" "Lysine methyltransferases|Tudor domain containing|Methyl-CpG binding domain containing|SET domain containing" "487|780|1025|1399" 1999-07-19 2018-12-21 2023-01-20 9869 ENSG00000143379 OTTHUMG00000035003 uc001evv.3 D31891 NM_001145415 "CCDS972|CCDS58026|CCDS91051|CCDS91050|CCDS44217" Q15047 10343109 MGI:1934229 RGD:1308370 604396 objectId:2705 HGNC:10761 "ENST00000692827.1|NM_001366418.1" +HGNC:20263 SETDB2 SET domain bifurcated histone lysine methyltransferase 2 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "CLLD8|CLLL8|KMT1F" C13orf4 "chromosome 13 open reading frame 4|SET domain, bifurcated 2|SET domain bifurcated 2" "Lysine methyltransferases|Methyl-CpG binding domain containing|SET domain containing" "487|1025|1399" 2003-01-16 2003-05-09 2018-12-21 2023-01-20 83852 ENSG00000136169 OTTHUMG00000016918 uc001vcz.4 AF334407 NM_031915 "CCDS53868|CCDS9417" Q96T68 11306461 MGI:2685139 RGD:2319564 607865 objectId:2706 HGNC:20263 "ENST00000611815.2|NM_001160308.3" +HGNC:10762 SETMAR SET domain and mariner transposase fusion gene protein-coding gene gene with protein product Approved 3p26.1 03p26.1 metnase "SET domain containing|DNA transposon derived genes" "1399|1415" 1997-11-20 2023-01-20 6419 ENSG00000170364 OTTHUMG00000090265 uc011asp.3 U80776 NM_006515 "CCDS63528|CCDS2563|CCDS58814" Q53H47 9461395 MGI:1921979 RGD:1565882 609834 HGNC:10762 "ENST00000358065.5|NM_006515.4" HGNC:19279 SETP1 SET pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 SETP SETP19 SET pseudogene 19 2005-09-23 2014-11-19 100133314 ENSG00000258863 OTTHUMG00000170988 NG_030238 PGOHUM00000247729 HGNC:19279 HGNC:20032 SETP2 SET pseudogene 2 pseudogene pseudogene Approved 14q22.1 14q22.1 2003-01-13 2014-11-19 326277 ENSG00000258893 OTTHUMG00000171075 NG_002537 PGOHUM00000248167 HGNC:20032 HGNC:31115 SETP3 SET pseudogene 3 pseudogene pseudogene Approved 17q22 17q22 SETP13 "SET translocation, pseudogene 3|SET pseudogene 13" 2005-09-23 2005-09-23 2014-11-18 619349 ENSG00000266648 OTTHUMG00000179241 NG_032022 HGNC:31115 @@ -35066,10 +35069,10 @@ HGNC:42941 SETP22 SET pseudogene 22 pseudogene pseudogene Approved 5q15 05q15 HGNC:42937 SETSIP SET like protein protein-coding gene gene with protein product Approved 1p22.1 01p22.1 SET similar protein SETP18 SET pseudogene 18 2011-09-06 2013-12-17 2019-02-13 2023-01-20 646817 ENSG00000230667 OTTHUMG00000010287 NM_001287737 P0DME0 22869753 MGI:1860267 RGD:1307467 HGNC:42937 "ENST00000596516.3|NM_001287737.2" HGNC:445 SETX senataxin protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "KIAA0625|AOA2|Sen1|STEX" "ALS4|SCAR1" "amyotrophic lateral sclerosis 4|spinocerebellar ataxia, recessive, non-Friedreich type 1" "UPF1 like RNA helicases|SSU processome" "1169|1484" 1996-10-26 2005-11-29 2005-11-29 2023-01-20 23064 ENSG00000107290 OTTHUMG00000020834 uc004cbk.4 AB014525 NM_015046 CCDS6947 Q7Z333 "9497266|11022012" MGI:2443480 RGD:1565575 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LOVD - Leiden Open Variation Database|http://www.geschwind.med.ucla.edu/LOVD/home.php?select_db=SETX|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_268|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_268.xml" 608465 118627 HGNC:445 "ENST00000224140.6|NM_015046.7" HGNC:445 HGNC:15955 SEZ6 seizure related 6 homolog protein-coding gene gene with protein product Approved 17q11.2 17q11.2 seizure related 6 homolog (mouse) Sushi domain containing 1179 2001-06-25 2016-04-19 2023-01-20 124925 ENSG00000063015 OTTHUMG00000168010 uc002hdp.3 AY038048 NM_001098635 "CCDS45638|CCDS45639" Q53EL9 17086543 MGI:104745 RGD:619780 616666 HGNC:15955 "ENST00000317338.17|NM_178860.5" -HGNC:10763 SEZ6L seizure related 6 homolog like protein-coding gene gene with protein product Approved 22q12.1 22q12.1 seizure related gene 6 (mouse)-like Sushi domain containing 1179 1999-10-12 2016-04-19 2023-01-20 23544 ENSG00000100095 OTTHUMG00000150870 uc003acb.4 AL050253 NM_001184773 "CCDS54509|CCDS54511|CCDS13833|CCDS54508|CCDS74837|CCDS54510" Q9BYH1 MGI:1935121 RGD:1563628 607021 HGNC:10763 "ENST00000248933.11|NM_021115.5" +HGNC:10763 SEZ6L seizure related 6 homolog like protein-coding gene gene with protein product Approved 22q12.1 22q12.1 seizure related gene 6 (mouse)-like Sushi domain containing 1179 1999-10-12 2016-04-19 2023-01-20 23544 ENSG00000100095 OTTHUMG00000150870 uc003acb.4 AL050253 NM_001184773 "CCDS54509|CCDS54508|CCDS13833|CCDS54510|CCDS54511|CCDS74837" Q9BYH1 MGI:1935121 RGD:1563628 607021 HGNC:10763 "ENST00000248933.11|NM_021115.5" HGNC:40521 SEZ6L-AS1 SEZ6L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Antisense RNAs 1987 2020-03-19 2020-03-19 105372974 ENSG00000224192 OTTHUMG00000151346 XR_001755470 -HGNC:30844 SEZ6L2 seizure related 6 homolog like 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "PSK-1|FLJ90517" type I transmembrane receptor (seizure related protein) seizure related 6 homolog (mouse)-like 2 Sushi domain containing 1179 2004-07-12 2016-04-19 2023-01-20 26470 ENSG00000174938 OTTHUMG00000132112 uc002dup.5 AY358404 NM_012410 "CCDS58447|CCDS10659|CCDS45458|CCDS73865|CCDS10658" Q6UXD5 "12975309|26698217" MGI:2385295 RGD:1565281 616667 HGNC:30844 "ENST00000617533.5|NM_001243332.2" -HGNC:12950 SF1 splicing factor 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ZFM1|ZCCHC25|BBP" branch point-binding protein ZNF162 zinc finger protein 162 "Zinc fingers CCHC-type|Spliceosomal A complex|Spliceosomal E complex" "74|1504|1522" 1994-09-27 2002-01-11 2001-12-19 2023-03-20 7536 ENSG00000168066 OTTHUMG00000066833 uc001obc.3 D26120 NM_004630 "CCDS53661|CCDS31599|CCDS8081|CCDS8080|CCDS53660|CCDS91502|CCDS44642" Q15637 "7912130|9573336" MGI:1095403 RGD:620645 LRG_617|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_617.xml 601516 471048 HGNC:12950 "ENST00000377390.8|NM_004630.4" +HGNC:30844 SEZ6L2 seizure related 6 homolog like 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "PSK-1|FLJ90517" type I transmembrane receptor (seizure related protein) seizure related 6 homolog (mouse)-like 2 Sushi domain containing 1179 2004-07-12 2016-04-19 2023-01-20 26470 ENSG00000174938 OTTHUMG00000132112 uc002dup.5 AY358404 NM_012410 "CCDS45458|CCDS10658|CCDS10659|CCDS58447|CCDS73865" Q6UXD5 "12975309|26698217" MGI:2385295 RGD:1565281 616667 HGNC:30844 "ENST00000617533.5|NM_001243332.2" +HGNC:12950 SF1 splicing factor 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ZFM1|ZCCHC25|BBP" branch point-binding protein ZNF162 zinc finger protein 162 "Zinc fingers CCHC-type|Spliceosomal A complex|Spliceosomal E complex" "74|1504|1522" 1994-09-27 2002-01-11 2001-12-19 2023-03-20 7536 ENSG00000168066 OTTHUMG00000066833 uc001obc.3 D26120 NM_004630 "CCDS44642|CCDS91502|CCDS8081|CCDS8080|CCDS31599|CCDS53661|CCDS53660" Q15637 "7912130|9573336" MGI:1095403 RGD:620645 LRG_617|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_617.xml 601516 471048 HGNC:12950 "ENST00000377390.8|NM_004630.4" HGNC:55278 SF1-DT SF1 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Divergent transcripts 1990 2020-10-06 2020-10-06 118827805 ENSG00000269038 HGNC:10765 SF3A1 splicing factor 3a subunit 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "SF3a120|SAP114|PRPF21|Prp21" "splicing factor 3a, subunit 1, 120kD|splicing factor 3a, subunit 1, 120kDa" "U2 small nuclear ribonucleoprotein |SF3a complex" "1501|1555" 2000-02-29 2015-11-09 2023-03-15 10291 ENSG00000099995 OTTHUMG00000151005 uc003ahl.4 X85237 NM_005877 CCDS13875 Q15459 7489498 MGI:1914715 RGD:1311477 LRG_622|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_622.xml 605595 HGNC:10765 "ENST00000215793.13|NM_005877.6" HGNC:10766 SF3A2 splicing factor 3a subunit 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SF3a66|SAP62|PRPF11|Prp11" "splicing factor 3a, subunit 2, 66kD|splicing factor 3a, subunit 2, 66kDa" "Zinc fingers matrin-type|U2 small nuclear ribonucleoprotein |SF3a complex" "84|1501|1555" 2000-02-29 2015-11-09 2023-01-20 8175 ENSG00000104897 OTTHUMG00000180414 uc002lvg.4 L21990 NM_007165 CCDS12084 Q15428 "8211113|8541848" MGI:104912 RGD:1308627 600796 HGNC:10766 "ENST00000221494.10|NM_007165.5" @@ -35077,14 +35080,14 @@ HGNC:56505 SF3A2P1 SF3A2 pseudogene 1 pseudogene pseudogene Approved 3q21.3 03q2 HGNC:10767 SF3A3 splicing factor 3a subunit 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "SF3a60|SAP61|PRP9|PRPF9" "splicing factor 3a, subunit 3, 60kD|splicing factor 3a, subunit 3, 60kDa" "U2 small nuclear ribonucleoprotein |SF3a complex" "1501|1555" 2000-02-29 2015-11-09 2023-01-20 10946 ENSG00000183431 OTTHUMG00000004438 uc001cci.4 U08815 NM_006802 CCDS428 Q12874 "7816610|8022796" MGI:1922312 RGD:1308726 605596 HGNC:10767 "ENST00000373019.5|NM_006802.4" HGNC:16576 SF3A3P1 splicing factor 3a, subunit 3 pseudogene 1 pseudogene pseudogene Approved 20p13 20p13 dJ581P3.1 SF3A3P splicing factor 3a, subunit 3 pseudogene 2001-09-17 2006-09-25 2006-09-25 2016-07-22 170548 ENSG00000230568 OTTHUMG00000031745 AL109805 NG_001054 PGOHUM00000296885 HGNC:16576 HGNC:23277 SF3A3P2 splicing factor 3a, subunit 3 pseudogene 2 pseudogene pseudogene Approved 11q24.1 11q24.1 2006-09-25 2017-10-26 449645 ENSG00000254449 OTTHUMG00000166005 NG_004710 PGOHUM00000290737 HGNC:23277 -HGNC:10768 SF3B1 splicing factor 3b subunit 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "SAP155|SF3b155|PRPF10|Prp10|Hsh155" "splicing factor 3b, subunit 1, 155kD|splicing factor 3b, subunit 1, 155kDa" "Armadillo like helical domain containing|SF3b complex|B-WICH chromatin-remodelling complex subunits" "1492|1517|1787" 2000-02-29 2015-11-09 2023-01-20 23451 ENSG00000115524 OTTHUMG00000154447 uc002uue.4 AF054284 NM_001005526 "CCDS33356|CCDS46479|CCDS82550" O75533 9585501 MGI:1932339 RGD:620148 LRG_624|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_624.xml SF3B1 605590 412551 HGNC:10768 "ENST00000335508.11|NM_012433.4" +HGNC:10768 SF3B1 splicing factor 3b subunit 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "SAP155|SF3b155|PRPF10|Prp10|Hsh155" "splicing factor 3b, subunit 1, 155kD|splicing factor 3b, subunit 1, 155kDa" "Armadillo like helical domain containing|SF3b complex|B-WICH chromatin-remodelling complex subunits" "1492|1517|1787" 2000-02-29 2015-11-09 2023-01-20 23451 ENSG00000115524 OTTHUMG00000154447 uc002uue.4 AF054284 NM_001005526 "CCDS46479|CCDS33356|CCDS82550" O75533 9585501 MGI:1932339 RGD:620148 LRG_624|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_624.xml SF3B1 605590 412551 HGNC:10768 "ENST00000335508.11|NM_012433.4" HGNC:10769 SF3B2 splicing factor 3b subunit 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "SAP145|SF3b1|Cus1|SF3b145" "splicing factor 3b, subunit 2, 145kD|splicing factor 3b, subunit 2, 145kDa" "Armadillo like helical domain containing|SF3b complex" "1492|1517" 2000-02-29 2015-11-09 2023-01-20 10992 ENSG00000087365 OTTHUMG00000166751 uc001ogy.2 U41371 NM_006842 CCDS31612 Q13435 8566756 MGI:2441856 RGD:1307159 605591 HGNC:10769 "ENST00000322535.11|NM_006842.3" HGNC:10770 SF3B3 splicing factor 3b subunit 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "SAP130|SF3b130|RSE1|KIAA0017" spliceosome-associated protein 130 "splicing factor 3b, subunit 3, 130kD|splicing factor 3b, subunit 3, 130kDa" "SF3b complex|Small nucleolar RNA protein coding host genes" "1517|1835" 2000-02-29 2015-11-09 2023-01-20 23450 ENSG00000189091 OTTHUMG00000137582 uc002ezf.3 AJ001443 NM_012426 CCDS10894 Q15393 10490618 MGI:1289341 RGD:1311636 605592 HGNC:10770 "ENST00000302516.10|NM_012426.5" HGNC:10771 SF3B4 splicing factor 3b subunit 4 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "SAP49|SF3b49|Hsh49" "splicing factor 3b, subunit 4, 49kD|splicing factor 3b, subunit 4, 49kDa" "RNA binding motif containing|SF3b complex" "725|1517" 2000-02-29 2015-11-09 2023-01-20 10262 ENSG00000143368 OTTHUMG00000012208 uc001etk.3 L35013 NM_005850 CCDS72900 Q15427 7958871 MGI:109580 RGD:1309667 605593 302925 HGNC:10771 "ENST00000271628.9|NM_005850.5" HGNC:10771 HGNC:19821 SF3B4P1 splicing factor 3b, subunit 4 pseudogene 1 pseudogene pseudogene Approved 14q23.3 14q23.3 SF3B4P splicing factor 3b, subunit 4, pseudogene 2003-01-13 2010-04-20 2010-04-20 2020-04-07 326276 ENSG00000258988 OTTHUMG00000171221 NG_002536 HGNC:19821 HGNC:21083 SF3B5 splicing factor 3b subunit 5 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "SF3b10|MGC3133|Ysf3" splicing factor 3b, subunit 5, 10kDa SF3b complex 1517 2003-05-28 2015-11-09 2023-01-20 83443 ENSG00000169976 OTTHUMG00000015737 uc003qkr.2 BC000198 NM_031287 CCDS5204 Q9BWJ5 12234937 MGI:1913375 RGD:1586993 617847 HGNC:21083 "ENST00000367569.4|NM_031287.3" HGNC:30096 SF3B6 splicing factor 3b subunit 6 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "P14|SF3B14a|Ht006|CGI-110|SAP14a" pre mRNA branch site protein p14 splicing factor 3b, subunit 6, 14kDa SF3b complex 1517 2014-02-14 2015-11-09 2023-01-20 51639 ENSG00000115128 OTTHUMG00000125499 NM_016047 CCDS1707 Q9Y3B4 "11500380|12738865" MGI:1913305 RGD:2318878 607835 HGNC:30096 "ENST00000233468.5|NM_016047.4" -HGNC:29064 SFI1 SFI1 centrin binding protein protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "KIAA0542|PISD|PPP1R139" protein phosphatase 1, regulatory subunit 139 Sfi1 homolog, spindle assembly associated (yeast) Protein phosphatase 1 regulatory subunits 694 2005-02-08 2015-06-29 2023-01-20 9814 ENSG00000198089 OTTHUMG00000030249 uc003ale.5 AB011114 NM_014775 "CCDS43004|CCDS43005|CCDS58804|CCDS58803" A8K8P3 "14504268|19857500" MGI:1926137 RGD:1560636 612765 HGNC:29064 "ENST00000400288.7|NM_001007467.3" +HGNC:29064 SFI1 SFI1 centrin binding protein protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "KIAA0542|PISD|PPP1R139" protein phosphatase 1, regulatory subunit 139 Sfi1 homolog, spindle assembly associated (yeast) Protein phosphatase 1 regulatory subunits 694 2005-02-08 2015-06-29 2023-01-20 9814 ENSG00000198089 OTTHUMG00000030249 uc003ale.5 AB011114 NM_014775 "CCDS58803|CCDS43004|CCDS58804|CCDS43005" A8K8P3 "14504268|19857500" MGI:1926137 RGD:1560636 612765 HGNC:29064 "ENST00000400288.7|NM_001007467.3" HGNC:20255 SFMBT1 Scm like with four mbt domains 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "RU1|DKFZp434L243|SFMBT" "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 2003-11-14 2017-07-18 2023-01-20 51460 ENSG00000163935 OTTHUMG00000159052 uc003dgh.4 AF168132 NM_016329 CCDS2867 Q9UHJ3 10661410 MGI:1859609 RGD:61999 607319 HGNC:20255 "ENST00000394752.8|NM_016329.4" HGNC:20256 SFMBT2 Scm like with four mbt domains 2 protein-coding gene gene with protein product Approved 10p14 10p14 KIAA1617 Scm-related gene containing four mbt domains 2 "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 2003-06-16 2017-07-18 2023-01-20 57713 ENSG00000198879 OTTHUMG00000017630 uc001ijn.2 AB046837 NM_001029880 CCDS31138 Q5VUG0 10997877 MGI:2447794 RGD:1305027 615392 HGNC:20256 "ENST00000397167.6|NM_001387889.1" HGNC:10773 SFN stratifin protein-coding gene gene with protein product Approved 1p36.11 01p36.11 YWHAS 14-3-3 sigma 14-3-3 phospho-serine/phospho-threonine binding proteins 1053 1994-09-15 2023-01-20 2810 ENSG00000175793 OTTHUMG00000004093 uc001bnc.2 BC023552 NM_006142 CCDS288 P31947 8515476 MGI:1891831 RGD:1304729 601290 HGNC:10773 "ENST00000339276.6|NM_006142.5" @@ -35108,7 +35111,7 @@ HGNC:10798 SFTPA1 surfactant protein A1 protein-coding gene gene with protein pr HGNC:10799 SFTPA2 surfactant protein A2 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "SP-A2|COLEC5" surfactant, pulmonary-associated protein A2A surfactant, pulmonary-associated protein A2 "Collectins|C-type lectin domain containing" "491|1298" 1997-04-16 2008-08-26 2023-01-20 729238 ENSG00000185303 OTTHUMG00000018566 uc001kal.5 NM_001098668 CCDS41540 Q8IWL1 MGI:109518 178642 269879 HGNC:10799 "ENST00000372325.7|NM_001098668.4" HGNC:10799 HGNC:10800 SFTPA3P surfactant protein A3, pseudogene pseudogene pseudogene Approved 10q22.3 10q22.3 COLEC6 "SFTPP1|SFTPAP1" "surfactant, pulmonary-associated protein A pseudogene 1|surfactant protein A pseudogene 1" Collectins 491 1992-09-28 2009-12-02 2009-12-02 2020-04-20 100288405 ENSG00000225827 OTTHUMG00000018568 NG_016155 1827027 HGNC:10800 HGNC:10801 SFTPB surfactant protein B protein-coding gene gene with protein product Approved 2p11.2 02p11.2 SP-B SFTP3 surfactant, pulmonary-associated protein B 1988-07-06 2008-08-26 2023-01-20 6439 ENSG00000168878 OTTHUMG00000130181 uc002sqh.4 J02761 NM_198843 CCDS1983 P07988 "2924687|1346779" MGI:109516 RGD:621700 178640 118639 HGNC:10801 "ENST00000519937.7|NM_000542.5" HGNC:10801 -HGNC:10802 SFTPC surfactant protein C protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "SP-C|PSP-C|SMDP2|BRICD6" BRICHOS domain containing 6 SFTP2 surfactant, pulmonary-associated protein C BRICHOS domain containing 457 1988-05-11 2008-08-26 2023-01-20 6440 ENSG00000168484 OTTHUMG00000163775 uc003xaz.4 NM_003018 "CCDS55209|CCDS83259|CCDS43722" P11686 "1859376|16709565" MGI:109517 RGD:3666 178620 118643 HGNC:10802 "ENST00000679463.1|NM_001317778.2" HGNC:10802 +HGNC:10802 SFTPC surfactant protein C protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "SP-C|PSP-C|SMDP2|BRICD6" BRICHOS domain containing 6 SFTP2 surfactant, pulmonary-associated protein C BRICHOS domain containing 457 1988-05-11 2008-08-26 2023-01-20 6440 ENSG00000168484 OTTHUMG00000163775 uc003xaz.4 NM_003018 "CCDS43722|CCDS55209|CCDS83259" P11686 "1859376|16709565" MGI:109517 RGD:3666 178620 118643 HGNC:10802 "ENST00000679463.1|NM_001317778.2" HGNC:10802 HGNC:10803 SFTPD surfactant protein D protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "SP-D|COLEC7" SFTP4 surfactant, pulmonary-associated protein D "Collectins|C-type lectin domain containing" "491|1298" 1992-06-26 2008-08-26 2023-01-20 6441 ENSG00000133661 OTTHUMG00000018590 uc001kbh.4 L05485 NM_003019 CCDS7362 P35247 "1898081|1339284" MGI:109515 RGD:3667 178635 HGNC:10803 "ENST00000372292.8|NM_003019.5" HGNC:51589 SFTPD-AS1 SFTPD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2015-03-11 2015-03-11 105419997 ENSG00000273372 OTTHUMG00000186448 AK124605 SFTPD-AS1 HGNC:16085 SFXN1 sideroflexin 1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "FLJ12876|SLC56A1" Solute carrier family 56, sideroflexins 746 2003-04-25 2023-03-14 94081 ENSG00000164466 OTTHUMG00000130555 uc003mda.3 AF327346 NM_022754 CCDS4394 Q9H9B4 MGI:2137677 RGD:1308482 615569 SLC56A1 objectId:3028 HGNC:16085 "ENST00000321442.10|NM_022754.7" @@ -35116,23 +35119,23 @@ HGNC:16086 SFXN2 sideroflexin 2 protein-coding gene gene with protein product Ap HGNC:16087 SFXN3 sideroflexin 3 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "SFX3|SLC56A3" Solute carrier family 56, sideroflexins 746 2004-11-24 2023-03-14 81855 ENSG00000107819 OTTHUMG00000018921 uc001ksp.4 AK074707 NM_030971 CCDS7508 Q9BWM7 MGI:2137679 RGD:620716 615571 SLC56A3 objectId:3030 HGNC:16087 "ENST00000393459.6|NM_030971.6" HGNC:16088 SFXN4 sideroflexin 4 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 SLC56A4 "Mitochondrial respiratory chain complex assembly factors|Solute carrier family 56, sideroflexins" "645|746" 2003-04-25 2023-04-12 119559 ENSG00000183605 OTTHUMG00000019147 uc001leb.4 NM_213649 CCDS7610 Q6P4A7 "14756423|35333655" MGI:2137680 RGD:1306088 615564 SLC56A4 392296 HGNC:16088 "ENST00000355697.7|NM_213649.2" HGNC:16088 HGNC:54574 SFXN4P1 SFXN4 pseudogene 1 pseudogene pseudogene Approved 2q22.2 02q22.2 2019-10-16 2023-03-14 100418906 ENSG00000270390 NG_023614 -HGNC:16073 SFXN5 sideroflexin 5 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "BBG-TCC|SLC56A5" Solute carrier family 56, sideroflexins 746 2001-07-27 2023-03-14 94097 ENSG00000144040 OTTHUMG00000129775 uc002siq.3 AY044437 NM_144579 "CCDS1922|CCDS82469" Q8TD22 "12039050|12150972" MGI:2137681 RGD:628706 615572 SLC56A5 objectId:3032 HGNC:16073 "ENST00000272433.7|NM_144579.3" -HGNC:10805 SGCA sarcoglycan alpha protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "SCARMD1|LGMD2D|adhalin|DMDA2|A2" "50kD DAG|adhalin|limb girdle muscular dystrophy 2D" ADL sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 1994-12-14 2015-11-13 2023-01-20 6442 ENSG00000108823 OTTHUMG00000162024 uc002iqi.4 L34355 NM_000023 "CCDS32679|CCDS45729" Q16586 7937874 MGI:894698 RGD:1308062 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCA|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCA|LRG_203|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_203.xml" 600119 118647 HGNC:10805 "ENST00000262018.8|NM_000023.4" HGNC:10805 +HGNC:16073 SFXN5 sideroflexin 5 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "BBG-TCC|SLC56A5" Solute carrier family 56, sideroflexins 746 2001-07-27 2023-03-14 94097 ENSG00000144040 OTTHUMG00000129775 uc002siq.3 AY044437 NM_144579 "CCDS82469|CCDS1922" Q8TD22 "12039050|12150972" MGI:2137681 RGD:628706 615572 SLC56A5 objectId:3032 HGNC:16073 "ENST00000272433.7|NM_144579.3" +HGNC:10805 SGCA sarcoglycan alpha protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "SCARMD1|LGMD2D|adhalin|DMDA2|A2" "50kD DAG|adhalin|limb girdle muscular dystrophy 2D" ADL sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 1994-12-14 2015-11-13 2023-01-20 6442 ENSG00000108823 OTTHUMG00000162024 uc002iqi.4 L34355 NM_000023 "CCDS45729|CCDS32679" Q16586 7937874 MGI:894698 RGD:1308062 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCA|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCA|LRG_203|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_203.xml" 600119 118647 HGNC:10805 "ENST00000262018.8|NM_000023.4" HGNC:10805 HGNC:10806 SGCB sarcoglycan beta protein-coding gene gene with protein product Approved 4q12 04q12 "SGC|A3b" LGMD2E sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 1995-01-24 2015-11-13 2023-01-20 6443 ENSG00000163069 OTTHUMG00000128697 uc003gzj.3 U29586 NM_000232 CCDS3488 Q16585 8968749 MGI:1346523 RGD:1594202 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCB|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCB|LRG_204|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_204.xml" 600900 118653 HGNC:10806 "ENST00000381431.10|NM_000232.5" HGNC:10806 -HGNC:10807 SGCD sarcoglycan delta protein-coding gene gene with protein product Approved 5q33.2-q33.3 05q33.2-q33.3 "DAGD|LGMD2F|CMD1L" sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 1997-07-22 2015-11-13 2023-01-20 6444 ENSG00000170624 OTTHUMG00000163445 uc003lwc.5 BX537948 NM_000337 "CCDS47325|CCDS47326|CCDS47327" Q92629 "8776597|8841194|10974018" MGI:1346525 RGD:1306638 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCD|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCD|LRG_205|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_205.xml" 601411 118658 HGNC:10807 "ENST00000337851.9|NM_000337.6" HGNC:10807 -HGNC:10808 SGCE sarcoglycan epsilon protein-coding gene gene with protein product Approved 7q21.3 07q21.3 DYT11 1999-01-11 2015-11-13 2023-01-20 8910 ENSG00000127990 OTTHUMG00000022828 uc003unl.3 AF036364 NM_001099400 "CCDS5637|CCDS47642|CCDS87520|CCDS47643|CCDS87519|CCDS87522|CCDS87523|CCDS75634" O43556 "9475163|9405466" MGI:1329042 RGD:1303201 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCE|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCE|LRG_206|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_206.xml" 604149 118663 HGNC:10808 "ENST00000648936.2|NM_003919.3" HGNC:10808 +HGNC:10807 SGCD sarcoglycan delta protein-coding gene gene with protein product Approved 5q33.2-q33.3 05q33.2-q33.3 "DAGD|LGMD2F|CMD1L" sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 1997-07-22 2015-11-13 2023-01-20 6444 ENSG00000170624 OTTHUMG00000163445 uc003lwc.5 BX537948 NM_000337 "CCDS47327|CCDS47326|CCDS47325" Q92629 "8776597|8841194|10974018" MGI:1346525 RGD:1306638 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCD|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCD|LRG_205|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_205.xml" 601411 118658 HGNC:10807 "ENST00000337851.9|NM_000337.6" HGNC:10807 +HGNC:10808 SGCE sarcoglycan epsilon protein-coding gene gene with protein product Approved 7q21.3 07q21.3 DYT11 1999-01-11 2015-11-13 2023-01-20 8910 ENSG00000127990 OTTHUMG00000022828 uc003unl.3 AF036364 NM_001099400 "CCDS47642|CCDS47643|CCDS87520|CCDS87519|CCDS87523|CCDS87522|CCDS75634|CCDS5637" O43556 "9475163|9405466" MGI:1329042 RGD:1303201 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCE|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCE|LRG_206|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_206.xml" 604149 118663 HGNC:10808 "ENST00000648936.2|NM_003919.3" HGNC:10808 HGNC:54675 SGCEP1 SGCE pseudogene 1 pseudogene pseudogene Approved 2q22.3 02q22.3 2019-11-27 2019-11-27 474174 ENSG00000235352 NG_004723 HGNC:10809 SGCG sarcoglycan gamma protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "SCARMD2|DAGA4|SCG3|DMDA|TYPE|A4|MGC130048" "Maghrebian myopathy (autosomal recessive)|35kD dystrophin-associated glycoprotein|limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)|gamma sarcoglycan" "DMDA1|MAM|LGMD2C" sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 1997-07-22 2015-11-13 2023-01-20 6445 ENSG00000102683 OTTHUMG00000016563 uc001uom.3 U34976 NM_000231 CCDS9299 Q13326 8968757 MGI:1346524 RGD:1359577 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCG|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCG|LRG_207|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_207.xml" 608896 118666 HGNC:10809 "ENST00000218867.4|NM_000231.3" HGNC:10809 HGNC:14075 SGCZ sarcoglycan zeta protein-coding gene gene with protein product Approved 8p22 08p22 ZSG1 "Zeta-sarcoglycan|Zeta-SG" MicroRNA protein coding host genes 1691 2002-09-09 2015-11-13 2023-01-20 137868 ENSG00000185053 OTTHUMG00000090827 uc003wwq.4 AY028700 NM_139167 CCDS5992 Q96LD1 12189167 MGI:2388820 RGD:1307788 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCZ|LRG_208|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_208.xml" 608113 HGNC:14075 "ENST00000382080.6|NM_139167.4" HGNC:25156 SGF29 SAGA complex associated factor 29 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ32446|TDRD29" SAGA-associated factor 29 homolog (yeast) CCDC101 coiled-coil domain containing 101 "Tudor domain containing|ATAC complex|SAGA complex" "780|1058|1059" 2006-04-03 2015-08-11 2015-08-11 2023-01-20 112869 ENSG00000176476 OTTHUMG00000131763 AK057008 NM_138414 CCDS10635 Q96ES7 "17334388|21685874" MGI:1922815 RGD:1310609 613374 HGNC:25156 "ENST00000317058.8|NM_138414.3" -HGNC:25412 SGIP1 SH3GL interacting endocytic adaptor 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 DKFZp761D221 SH3 domain GRB2 like endophilin interacting protein 1 MicroRNA protein coding host genes 1691 2004-06-01 2019-07-18 2023-01-20 84251 ENSG00000118473 OTTHUMG00000009161 uc001dcr.4 AL136561 NM_032291 "CCDS90972|CCDS90971|CCDS76171|CCDS90969|CCDS90970|CCDS30744|CCDS90973" Q9BQI5 11230166 MGI:1920344 RGD:1564957 611540 HGNC:25412 "ENST00000371037.9|NM_032291.4" -HGNC:10810 SGK1 serum/glucocorticoid regulated kinase 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 SGK serum/glucocorticoid regulated kinase 1997-06-12 2007-12-05 2007-12-05 2023-01-20 6446 ENSG00000118515 OTTHUMG00000015613 uc003qen.5 AJ000512 NM_001143676 "CCDS47476|CCDS78184|CCDS47478|CCDS5170|CCDS47477" O00141 "9114008|9722955" MGI:1340062 RGD:3668 602958 objectId:1534 HGNC:10810 "ENST00000367858.10|NM_001143676.3" +HGNC:25412 SGIP1 SH3GL interacting endocytic adaptor 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 DKFZp761D221 SH3 domain GRB2 like endophilin interacting protein 1 MicroRNA protein coding host genes 1691 2004-06-01 2019-07-18 2023-01-20 84251 ENSG00000118473 OTTHUMG00000009161 uc001dcr.4 AL136561 NM_032291 "CCDS76171|CCDS90973|CCDS90969|CCDS90970|CCDS90971|CCDS30744|CCDS90972" Q9BQI5 11230166 MGI:1920344 RGD:1564957 611540 HGNC:25412 "ENST00000371037.9|NM_032291.4" +HGNC:10810 SGK1 serum/glucocorticoid regulated kinase 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 SGK serum/glucocorticoid regulated kinase 1997-06-12 2007-12-05 2007-12-05 2023-01-20 6446 ENSG00000118515 OTTHUMG00000015613 uc003qen.5 AJ000512 NM_001143676 "CCDS47478|CCDS5170|CCDS47476|CCDS78184|CCDS47477" O00141 "9114008|9722955" MGI:1340062 RGD:3668 602958 objectId:1534 HGNC:10810 "ENST00000367858.10|NM_001143676.3" HGNC:13900 SGK2 serum/glucocorticoid regulated kinase 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "serum/glucocorticoid regulated kinase 2|SGK2, serine/threonine kinase 2" 2000-11-21 2019-01-28 2023-01-20 10110 ENSG00000101049 OTTHUMG00000033054 uc002xku.4 AF169034 NM_001199264 CCDS13321 Q9HBY8 "10548550|26740304|26392083|15134818" MGI:1351318 RGD:620232 LRG_1050|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1050.xml 607589 objectId:1535 2.7.11.1 HGNC:13900 "ENST00000373100.7|NM_170693.3" HGNC:10812 SGK3 serum/glucocorticoid regulated kinase family member 3 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "SGK2|SGKL" "serum/glucocorticoid regulated kinase-like|serum/glucocorticoid regulated kinase family, member 3" 1999-08-12 2005-09-13 2015-11-18 2023-03-15 23678 ENSG00000104205 OTTHUMG00000164561 uc003xwr.4 NM_001033578 CCDS6196 Q96BR1 "10585774|10548550" MGI:2182368 RGD:620242 607591 objectId:1536 HGNC:10812 "ENST00000521198.7|NM_001033578.3" HGNC:10812 HGNC:29799 SGMS1 sphingomyelin synthase 1 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "MOB|MGC17342|SMS1" phosphatidylcholine:ceramide cholinephosphotransferase 1 TMEM23 transmembrane protein 23 Sterile alpha motif domain containing 760 2004-03-23 2007-03-16 2007-03-16 2023-01-20 259230 ENSG00000198964 OTTHUMG00000018231 uc001jje.4 AY280959 NM_147156 CCDS7240 Q86VZ5 "11841947|14976195" MGI:2444110 RGD:727912 611573 objectId:2520 2.7.8.27 HGNC:29799 "ENST00000361781.7|NM_147156.4" HGNC:49683 SGMS1-AS1 SGMS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.23 10q11.23 Antisense RNAs 1987 2014-02-01 2016-08-17 104355295 ENSG00000226200 OTTHUMG00000018230 NR_126411 24495672 MGI:1914438 SGMS1-AS1 HGNC:49683 HGNC:28395 SGMS2 sphingomyelin synthase 2 protein-coding gene gene with protein product Approved 4q25 04q25 "MGC26963|SMS2" 2007-03-15 2023-01-20 166929 ENSG00000164023 OTTHUMG00000131811 uc003hyl.6 BC041369 NM_152621 CCDS3677 Q8NHU3 14685263 MGI:1921692 RGD:1305778 611574 objectId:2521 2.7.8.27 HGNC:28395 "ENST00000690982.1|NM_001375905.1" HGNC:28395 -HGNC:25088 SGO1 shugoshin 1 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 NY-BR-85 SGOL1 shugoshin-like 1 (S. pombe) 2004-04-05 2016-03-18 2016-03-18 2023-01-20 151648 ENSG00000129810 OTTHUMG00000130479 uc003cbw.4 BC001339 NM_138484 "CCDS56243|CCDS46772|CCDS46771|CCDS46773|CCDS2635|CCDS46774|CCDS33716" Q5FBB7 12747765 MGI:1919665 RGD:1593238 609168 444785 HGNC:25088 "ENST00000412997.6|NM_001199251.3" HGNC:25088 +HGNC:25088 SGO1 shugoshin 1 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 NY-BR-85 SGOL1 shugoshin-like 1 (S. pombe) 2004-04-05 2016-03-18 2016-03-18 2023-01-20 151648 ENSG00000129810 OTTHUMG00000130479 uc003cbw.4 BC001339 NM_138484 "CCDS46771|CCDS56243|CCDS46772|CCDS2635|CCDS33716|CCDS46773|CCDS46774" Q5FBB7 12747765 MGI:1919665 RGD:1593238 609168 444785 HGNC:25088 "ENST00000412997.6|NM_001199251.3" HGNC:25088 HGNC:41081 SGO1-AS1 SGO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 SGOL1-AS1 "SGOL1 antisense RNA 1 (non-protein coding)|SGOL1 antisense RNA 1" Antisense RNAs 1987 2011-07-28 2016-03-18 2016-03-18 2019-07-12 100874028 ENSG00000231304 OTTHUMG00000155532 uc284pts.1 NR_132785 31156154 SGO1-AS1 HGNC:41081 HGNC:50776 SGO1P1 shugoshin 1 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 SGOL1P1 shugoshin-like 1 (S. pombe) pseudogene 1 2014-06-18 2016-03-18 2016-03-18 2016-03-18 100533666 ENSG00000270615 OTTHUMG00000184292 NG_028827 PGOHUM00000244068 HGNC:50776 HGNC:50777 SGO1P2 shugoshin 1 pseudogene 2 pseudogene pseudogene Approved 7p12.1 07p12.1 SGOL1P2 shugoshin-like 1 (S. pombe) pseudogene 2 2014-06-18 2016-03-18 2016-03-18 2016-03-18 100533661 ENSG00000234304 OTTHUMG00000155992 NG_028667 PGOHUM00000232695 HGNC:50777 @@ -35141,58 +35144,58 @@ HGNC:10817 SGPL1 sphingosine-1-phosphate lyase 1 protein-coding gene gene with p HGNC:17720 SGPP1 sphingosine-1-phosphate phosphatase 1 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 Sphingosine-1-phosphate phosphatases 1070 2003-01-24 2023-01-20 81537 ENSG00000126821 OTTHUMG00000029080 uc001xgj.5 AJ293294 NM_030791 CCDS9760 Q9BX95 10859351 MGI:2135760 RGD:727829 612826 objectId:2523 HGNC:17720 "ENST00000247225.7|NM_030791.4" HGNC:19953 SGPP2 sphingosine-1-phosphate phosphatase 2 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "SPP2|FLJ39004" Sphingosine-1-phosphate phosphatases 1070 2003-02-12 2010-05-26 2023-01-20 130367 ENSG00000163082 OTTHUMG00000133156 uc010zlo.3 AF542512 NM_152386 CCDS2453 Q8IWX5 12411432 MGI:3589109 RGD:1565739 612827 objectId:2524 HGNC:19953 "ENST00000321276.8|NM_152386.4" HGNC:10818 SGSH N-sulfoglucosamine sulfohydrolase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "HSS|MPS3A|SFMD" "sulfamidase|mucopolysaccharidosis type IIIA" Sulfatases 410 1997-06-24 2008-07-31 2023-01-20 6448 ENSG00000181523 OTTHUMG00000177569 uc002jxz.5 BC047318 NM_000199 CCDS11770 P51688 7493035 MGI:1350341 RGD:1591134 605270 118674 3.10.1.1 HGNC:10818 "ENST00000326317.11|NM_000199.5" HGNC:10818 -HGNC:29410 SGSM1 small G protein signaling modulator 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 KIAA1941 RUTBC2 RUN and TBC1 domain containing 2 Small G protein signaling modulators 751 2004-02-27 2007-08-14 2007-08-14 2023-01-20 129049 ENSG00000167037 OTTHUMG00000150837 uc003abg.3 AB075821 NM_001039948 "CCDS46674|CCDS74834|CCDS46675" Q2NKQ1 "11853319|17509819|22637480" MGI:107320 RGD:1308178 611417 HGNC:29410 "ENST00000400358.9|NM_001098497.3" -HGNC:29026 SGSM2 small G protein signaling modulator 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 KIAA0397 RUTBC1 RUN and TBC1 domain containing 1 Small G protein signaling modulators 751 2004-02-27 2007-08-14 2007-08-14 2023-01-20 9905 ENSG00000141258 OTTHUMG00000177637 uc002fum.5 BC039204 NM_014853 "CCDS32526|CCDS45570|CCDS86557" O43147 "9455477|17509819|21808068" MGI:2144695 RGD:1306957 611418 HGNC:29026 "ENST00000268989.8|NM_014853.3" +HGNC:29410 SGSM1 small G protein signaling modulator 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 KIAA1941 RUTBC2 RUN and TBC1 domain containing 2 Small G protein signaling modulators 751 2004-02-27 2007-08-14 2007-08-14 2023-01-20 129049 ENSG00000167037 OTTHUMG00000150837 uc003abg.3 AB075821 NM_001039948 "CCDS46674|CCDS46675|CCDS74834" Q2NKQ1 "11853319|17509819|22637480" MGI:107320 RGD:1308178 611417 HGNC:29410 "ENST00000400358.9|NM_001098497.3" +HGNC:29026 SGSM2 small G protein signaling modulator 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 KIAA0397 RUTBC1 RUN and TBC1 domain containing 1 Small G protein signaling modulators 751 2004-02-27 2007-08-14 2007-08-14 2023-01-20 9905 ENSG00000141258 OTTHUMG00000177637 uc002fum.5 BC039204 NM_014853 "CCDS86557|CCDS32526|CCDS45570" O43147 "9455477|17509819|21808068" MGI:2144695 RGD:1306957 611418 HGNC:29026 "ENST00000268989.8|NM_014853.3" HGNC:56091 SGSM2-AS1 SGSM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 RP1-59D14.5 Antisense RNAs 1987 2021-12-20 2022-08-18 123706538 ENSG00000263345 HGNC:25228 SGSM3 small G protein signaling modulator 3 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "DJ1042K10.2|RUSC3|RabGAP-5|RABGAP5" RUN and SH3 containing 3 RUTBC3 RUN and TBC1 domain containing 3 Small G protein signaling modulators 751 2004-02-27 2007-08-14 2007-08-14 2023-01-20 27352 ENSG00000100359 OTTHUMG00000151141 uc003ayu.2 AL022238 NM_015705 CCDS14002 Q96HU1 "11214971|17509819" MGI:1916329 RGD:735113 610440 HGNC:25228 "ENST00000248929.14|NM_015705.6" HGNC:41088 SGSM3-AS1 SGSM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 Antisense RNAs 1987 2020-03-19 2020-03-19 107985538 ENSG00000229999 OTTHUMG00000151143 HGNC:10819 SGTA small glutamine rich tetratricopeptide repeat co-chaperone alpha protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "UBP|SGT1|Vpu|hSGT|alphaSGT" viral protein U-binding protein SGT "small glutamine-rich tetratricopeptide repeat (TPR)-containing|small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha|small glutamine rich tetratricopeptide repeat containing alpha" "Tetratricopeptide repeat domain containing|GET4-GET5 transmembrane domain recognition complex subunits" "769|1914" 1998-03-24 2003-11-26 2021-02-11 2023-01-20 6449 ENSG00000104969 OTTHUMG00000180474 uc002lwi.2 AJ223828 NM_003021 CCDS12094 O43765 "9740675|12735788|23818240" MGI:1098703 RGD:620815 603419 HGNC:10819 "ENST00000221566.7|NM_003021.4" HGNC:23567 SGTB small glutamine rich tetratricopeptide repeat co-chaperone beta protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "Sgt2|FLJ39002" "small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta|small glutamine rich tetratricopeptide repeat containing beta" Tetratricopeptide repeat domain containing 769 2003-11-24 2021-02-11 2023-01-20 54557 ENSG00000197860 OTTHUMG00000097801 uc003jud.4 AK096321 NM_019072 CCDS3988 Q96EQ0 "23820636|30639199" MGI:2444615 RGD:727976 HGNC:23567 "ENST00000381007.9|NM_019072.3" -HGNC:30417 SH2B1 SH2B adaptor protein 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ30542|SH2B" SH2-B homolog "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 2006-07-04 2023-01-20 25970 ENSG00000178188 OTTHUMG00000176590 uc002drm.4 AK055104 NM_015503 "CCDS53997|CCDS32424|CCDS53996|CCDS76851" Q9NRF2 "11827956|10594240" MGI:1201407 RGD:620132 608937 293315 HGNC:30417 "ENST00000684370.1|NM_001387430.1" HGNC:30417 +HGNC:30417 SH2B1 SH2B adaptor protein 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ30542|SH2B" SH2-B homolog "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 2006-07-04 2023-01-20 25970 ENSG00000178188 OTTHUMG00000176590 uc002drm.4 AK055104 NM_015503 "CCDS32424|CCDS53996|CCDS53997|CCDS76851" Q9NRF2 "11827956|10594240" MGI:1201407 RGD:620132 608937 293315 HGNC:30417 "ENST00000684370.1|NM_001387430.1" HGNC:30417 HGNC:17381 SH2B2 SH2B adaptor protein 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 APS adaptor protein with pleckstrin homology and src "Pleckstrin homology domain containing|SH2 domain containing|MicroRNA protein coding host genes" "682|741|1691" 2006-07-04 2023-01-20 10603 ENSG00000160999 OTTHUMG00000150652 uc033aba.2 AB000520 NM_020979 CCDS78264 O14492 9233773 MGI:1345171 RGD:69284 605300 HGNC:17381 "ENST00000444095.3|NM_001359228.2" -HGNC:29605 SH2B3 SH2B adaptor protein 3 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 "LNK|IDDM20" lymphocyte adaptor protein "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 2006-07-04 2023-01-20 10019 ENSG00000111252 OTTHUMG00000169550 uc001tse.3 AF055581 NM_005475 "CCDS76602|CCDS9153" Q9UQQ2 10799879 MGI:893598 RGD:68411 LRG_621|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_621.xml SH2B3 605093 394580 HGNC:29605 "ENST00000341259.7|NM_005475.3" HGNC:29605 -HGNC:10820 SH2D1A SH2 domain containing 1A protein-coding gene gene with protein product Approved Xq25 Xq25 "XLP|MTCP1|DSHP|XLPD|EBVS|SAP" Duncan's disease "IMD5|LYP" "lymphoproliferative syndrome|SH2 domain protein 1A" SH2 domain containing 741 1989-06-30 2010-04-21 2023-01-20 4068 ENSG00000183918 OTTHUMG00000022344 uc004euf.6 AL023657 NM_002351 "CCDS48162|CCDS14608" O60880 "9771704|9774102" MGI:1328352 RGD:1562408 "SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)|http://structure.bmc.lu.se/idbase/SH2D1Abase/|LRG_106|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_106.xml" 300490 118679 HGNC:10820 "ENST00000371139.9|NM_002351.5" HGNC:10820 +HGNC:29605 SH2B3 SH2B adaptor protein 3 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 "LNK|IDDM20" lymphocyte adaptor protein "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 2006-07-04 2023-01-20 10019 ENSG00000111252 OTTHUMG00000169550 uc001tse.3 AF055581 NM_005475 "CCDS9153|CCDS76602" Q9UQQ2 10799879 MGI:893598 RGD:68411 LRG_621|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_621.xml SH2B3 605093 394580 HGNC:29605 "ENST00000341259.7|NM_005475.3" HGNC:29605 +HGNC:10820 SH2D1A SH2 domain containing 1A protein-coding gene gene with protein product Approved Xq25 Xq25 "XLP|MTCP1|DSHP|XLPD|EBVS|SAP" Duncan's disease "IMD5|LYP" "lymphoproliferative syndrome|SH2 domain protein 1A" SH2 domain containing 741 1989-06-30 2010-04-21 2023-01-20 4068 ENSG00000183918 OTTHUMG00000022344 uc004euf.6 AL023657 NM_002351 "CCDS14608|CCDS48162" O60880 "9771704|9774102" MGI:1328352 RGD:1562408 "SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)|http://structure.bmc.lu.se/idbase/SH2D1Abase/|LRG_106|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_106.xml" 300490 118679 HGNC:10820 "ENST00000371139.9|NM_002351.5" HGNC:10820 HGNC:30416 SH2D1B SH2 domain containing 1B protein-coding gene gene with protein product Approved 1q23.3 01q23.3 EAT2 SH2 domain containing 741 2005-05-09 2023-01-20 117157 ENSG00000198574 OTTHUMG00000031377 uc001gbz.2 AF484964 NM_053282 CCDS30928 O14796 "9000139|11689425" "MGI:1349420|MGI:3622649" RGD:1563935 608510 HGNC:30416 "ENST00000367929.3|NM_053282.5" -HGNC:10821 SH2D2A SH2 domain containing 2A protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "TSAd|F2771" "T lymphocyte specific adaptor protein|T cell specific adapter protein TSAd|T cell specific adpater protein TSAd" SH2 domain protein 2A SH2 domain containing 741 1998-11-19 2010-04-21 2023-01-20 9047 ENSG00000027869 OTTHUMG00000041305 uc001fqd.3 AJ000553 NM_003975 "CCDS1159|CCDS53380|CCDS53381" Q9NP31 9468509 MGI:1351596 RGD:1303076 604514 HGNC:10821 "ENST00000368199.8|NM_003975.4" +HGNC:10821 SH2D2A SH2 domain containing 2A protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "TSAd|F2771" "T lymphocyte specific adaptor protein|T cell specific adapter protein TSAd|T cell specific adpater protein TSAd" SH2 domain protein 2A SH2 domain containing 741 1998-11-19 2010-04-21 2023-01-20 9047 ENSG00000027869 OTTHUMG00000041305 uc001fqd.3 AJ000553 NM_003975 "CCDS53380|CCDS53381|CCDS1159" Q9NP31 9468509 MGI:1351596 RGD:1303076 604514 HGNC:10821 "ENST00000368199.8|NM_003975.4" HGNC:16885 SH2D3A SH2 domain containing 3A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 NSP1 SH2 domain-containing 3A "SH2 domain containing|NSP adaptor proteins" "741|1562" 2001-11-19 2002-01-14 2023-01-20 10045 ENSG00000125731 OTTHUMG00000181868 uc002mft.4 AF124249 NM_005490 CCDS12173 Q9BRG2 10187783 RGD:2322080 604721 HGNC:16885 "ENST00000245908.11|NM_005490.3" -HGNC:16884 SH2D3C SH2 domain containing 3C protein-coding gene gene with protein product Approved 9q34.11 09q34.11 NSP3 SH2 domain-containing 3C "SH2 domain containing|NSP adaptor proteins" "741|1562" 2001-11-19 2002-01-14 2023-01-20 10044 ENSG00000095370 OTTHUMG00000020717 uc004bsc.4 AF124251 NM_005489 "CCDS6877|CCDS48026|CCDS6878|CCDS48027|CCDS48028|CCDS59145" Q8N5H7 10187783 MGI:1351631 RGD:1307287 604722 HGNC:16884 "ENST00000314830.13|NM_170600.3" +HGNC:16884 SH2D3C SH2 domain containing 3C protein-coding gene gene with protein product Approved 9q34.11 09q34.11 NSP3 SH2 domain-containing 3C "SH2 domain containing|NSP adaptor proteins" "741|1562" 2001-11-19 2002-01-14 2023-01-20 10044 ENSG00000095370 OTTHUMG00000020717 uc004bsc.4 AF124251 NM_005489 "CCDS59145|CCDS48028|CCDS6878|CCDS48027|CCDS48026|CCDS6877" Q8N5H7 10187783 MGI:1351631 RGD:1307287 604722 HGNC:16884 "ENST00000314830.13|NM_170600.3" HGNC:26102 SH2D4A SH2 domain containing 4A protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "FLJ20967|SH2A|PPP1R38" protein phosphatase 1, regulatory subunit 38 "Protein phosphatase 1 regulatory subunits|SH2 domain containing" "694|741" 2004-04-16 2023-01-20 63898 ENSG00000104611 OTTHUMG00000097005 uc003wzb.4 AY190323 NM_022071 "CCDS6009|CCDS55206" Q9H788 MGI:1919531 RGD:1307991 614968 HGNC:26102 "ENST00000265807.8|NM_022071.4" -HGNC:31440 SH2D4B SH2 domain containing 4B protein-coding gene gene with protein product Approved 10q23.1 10q23.1 SH2 domain containing 741 2004-04-16 2023-01-20 387694 ENSG00000178217 OTTHUMG00000018617 uc001kck.1 NM_001145719 "CCDS44449|CCDS7370|CCDS91286" Q5SQS7 MGI:1925182 RGD:1311591 HGNC:31440 "ENST00000646907.2|NM_001388272.1" -HGNC:28819 SH2D5 SH2 domain containing 5 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 2005-08-08 2023-01-20 400745 ENSG00000189410 OTTHUMG00000002620 uc009vpy.2 "AK124869|AK123236" NM_001103161 "CCDS41280|CCDS44080" Q6ZV89 25331951 MGI:2446215 RGD:1305952 HGNC:28819 "ENST00000444387.7|NM_001103161.2" +HGNC:31440 SH2D4B SH2 domain containing 4B protein-coding gene gene with protein product Approved 10q23.1 10q23.1 SH2 domain containing 741 2004-04-16 2023-01-20 387694 ENSG00000178217 OTTHUMG00000018617 uc001kck.1 NM_001145719 "CCDS44449|CCDS91286|CCDS7370" Q5SQS7 MGI:1925182 RGD:1311591 HGNC:31440 "ENST00000646907.2|NM_001388272.1" +HGNC:28819 SH2D5 SH2 domain containing 5 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 2005-08-08 2023-01-20 400745 ENSG00000189410 OTTHUMG00000002620 uc009vpy.2 "AK124869|AK123236" NM_001103161 "CCDS44080|CCDS41280" Q6ZV89 25331951 MGI:2446215 RGD:1305952 HGNC:28819 "ENST00000444387.7|NM_001103161.2" HGNC:30439 SH2D6 SH2 domain containing 6 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ35993|SLNK" SH2 linker protein related to BLNK SH2 domain containing 741 2006-08-24 2023-03-15 284948 ENSG00000152292 OTTHUMG00000130176 uc002spq.3 AF450483 NM_198482 CCDS92791 Q7Z4S9 16793553 MGI:1918380 RGD:1587427 HGNC:30439 "ENST00000469800.7|NM_001394463.1" HGNC:34549 SH2D7 SH2 domain containing 7 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 LOC646892 SH2 domain containing 741 2008-10-15 2023-01-20 646892 ENSG00000183476 OTTHUMG00000154271 uc010blb.2 NM_001101404 CCDS45315 A6NKC9 MGI:2441692 RGD:1309791 HGNC:34549 "ENST00000328828.6|NM_001101404.2" -HGNC:10822 SH3BGR SH3 domain binding glutamate rich protein protein-coding gene gene with protein product Approved 21q22.2 21q22.2 21-GARP 21-glutamic acid-rich protein "SH3 domain binding glutamic acid-rich protein|SH3 domain binding glutamate-rich protein" MicroRNA protein coding host genes 1691 1996-10-11 2016-01-29 2023-01-20 6450 ENSG00000185437 OTTHUMG00000074113 uc002yya.4 NM_007341 "CCDS13666|CCDS82675|CCDS33560" P55822 9050928 MGI:1354740 RGD:1563599 602230 HGNC:10822 "ENST00000333634.10|NM_007341.3" +HGNC:10822 SH3BGR SH3 domain binding glutamate rich protein protein-coding gene gene with protein product Approved 21q22.2 21q22.2 21-GARP 21-glutamic acid-rich protein "SH3 domain binding glutamic acid-rich protein|SH3 domain binding glutamate-rich protein" MicroRNA protein coding host genes 1691 1996-10-11 2016-01-29 2023-01-20 6450 ENSG00000185437 OTTHUMG00000074113 uc002yya.4 NM_007341 "CCDS82675|CCDS33560|CCDS13666" P55822 9050928 MGI:1354740 RGD:1563599 602230 HGNC:10822 "ENST00000333634.10|NM_007341.3" HGNC:10823 SH3BGRL SH3 domain binding glutamate rich protein like protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 MGC117402 SH3 domain binding glutamic acid-rich protein like 1998-01-21 2016-01-29 2023-01-20 6451 ENSG00000131171 OTTHUMG00000021910 uc004eef.4 AF042081 NM_003022 CCDS14449 O75368 9642120 MGI:1930849 RGD:1560520 300190 HGNC:10823 "ENST00000373212.6|NM_003022.3" HGNC:15567 SH3BGRL2 SH3 domain binding glutamate rich protein like 2 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 SH3 domain binding glutamic acid-rich protein like 2 2001-04-26 2016-01-29 2023-01-20 83699 ENSG00000198478 OTTHUMG00000015081 uc003piz.2 AJ297972 NM_031469 CCDS4991 Q9UJC5 12095696 MGI:1915350 RGD:1591931 615678 HGNC:15567 "ENST00000369838.6|NM_031469.4" HGNC:15568 SH3BGRL3 SH3 domain binding glutamate rich protein like 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SH3 domain binding glutamic acid-rich protein like 3 2001-04-26 2016-01-29 2023-01-20 83442 ENSG00000142669 OTTHUMG00000003381 uc001blu.4 AJ297915 NM_031286 CCDS278 Q9H299 MGI:1920973 RGD:1308118 615679 HGNC:15568 "ENST00000270792.10|NM_031286.4" HGNC:10824 SH3BP1 SH3 domain binding protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 ARHGAP43 "N-BAR domain containing|AH/BAR family Rho GTPase activating proteins" "1289|1923" 1999-10-19 2016-04-28 2023-01-20 23616 ENSG00000100092 OTTHUMG00000030996 uc003ati.4 NM_018957 CCDS13952 Q9Y3L3 "10591208|12029088" MGI:104603 RGD:1306275 LRG_1154|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1154.xml 617368 HGNC:10824 "ENST00000649765.2|NM_018957.6" -HGNC:10825 SH3BP2 SH3 domain binding protein 2 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "RES4-23|CRBM" Cherubism "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-08-01 2016-04-28 2023-01-20 6452 ENSG00000087266 OTTHUMG00000160801 uc003gfi.5 BC022996 NM_003023 "CCDS54715|CCDS33944|CCDS54716" P78314 "9299232|11381256" MGI:1346349 RGD:1310588 LRG_1334|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1334.xml 602104 118689 HGNC:10825 "ENST00000503393.8|NM_001122681.2" HGNC:10825 +HGNC:10825 SH3BP2 SH3 domain binding protein 2 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "RES4-23|CRBM" Cherubism "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-08-01 2016-04-28 2023-01-20 6452 ENSG00000087266 OTTHUMG00000160801 uc003gfi.5 BC022996 NM_003023 "CCDS33944|CCDS54716|CCDS54715" P78314 "9299232|11381256" MGI:1346349 RGD:1310588 LRG_1334|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1334.xml 602104 118689 HGNC:10825 "ENST00000503393.8|NM_001122681.2" HGNC:10825 HGNC:10826 SH3BP4 SH3 domain binding protein 4 protein-coding gene gene with protein product Approved 2q37.2 02q37.2 1999-08-26 2016-04-28 2023-01-20 23677 ENSG00000130147 OTTHUMG00000133292 uc002vvp.4 AF147747 NM_001371302 CCDS2513 Q9P0V3 10644451 MGI:2138297 RGD:620219 605611 HGNC:10826 "ENST00000392011.7|NM_014521.3" -HGNC:10827 SH3BP5 SH3 domain binding protein 5 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 Sab SH3 binding protein SH3-domain binding protein 5 (BTK-associated) 1999-09-07 2016-04-28 2023-01-20 9467 ENSG00000131370 OTTHUMG00000129859 uc003bzp.3 AB005047 NM_004844 "CCDS2625|CCDS43055" O60239 "9571151|10339589" MGI:1344391 RGD:620220 605612 HGNC:10827 "ENST00000383791.8|NM_004844.5" +HGNC:10827 SH3BP5 SH3 domain binding protein 5 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 Sab SH3 binding protein SH3-domain binding protein 5 (BTK-associated) 1999-09-07 2016-04-28 2023-01-20 9467 ENSG00000131370 OTTHUMG00000129859 uc003bzp.3 AB005047 NM_004844 "CCDS43055|CCDS2625" O60239 "9571151|10339589" MGI:1344391 RGD:620220 605612 HGNC:10827 "ENST00000383791.8|NM_004844.5" HGNC:44501 SH3BP5-AS1 SH3BP5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 Antisense RNAs 1987 2012-11-12 2012-11-12 100505696 ENSG00000224660 OTTHUMG00000155575 uc003bzo.3 NR_046084 SH3BP5-AS1 HGNC:44501 HGNC:29360 SH3BP5L SH3 binding domain protein 5 like protein-coding gene gene with protein product Approved 1q44 01q44 KIAA1720 2005-07-29 2016-04-28 2023-01-20 80851 ENSG00000175137 OTTHUMG00000040389 uc001iew.2 AB051507 NM_030645 CCDS31126 Q7L8J4 MGI:1933124 RGD:1590939 HGNC:29360 "ENST00000366472.6|NM_030645.3" -HGNC:30418 SH3D19 SH3 domain containing 19 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "DKFZp434D0215|EVE1|EBP|Kryn|SH3P19|Eve-1" EEN binding protein 2008-02-18 2009-03-05 2009-03-05 2023-01-20 152503 ENSG00000109686 OTTHUMG00000154051 uc010ipl.1 BX647422 NM_001009555 "CCDS34077|CCDS93652|CCDS93651|CCDS47143|CCDS47144" Q5HYK7 12615363 MGI:1350923 RGD:1304885 608674 HGNC:30418 "ENST00000604030.7|NM_001378122.1" +HGNC:30418 SH3D19 SH3 domain containing 19 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "DKFZp434D0215|EVE1|EBP|Kryn|SH3P19|Eve-1" EEN binding protein 2008-02-18 2009-03-05 2009-03-05 2023-01-20 152503 ENSG00000109686 OTTHUMG00000154051 uc010ipl.1 BX647422 NM_001009555 "CCDS34077|CCDS47143|CCDS93652|CCDS93651|CCDS47144" Q5HYK7 12615363 MGI:1350923 RGD:1304885 608674 HGNC:30418 "ENST00000604030.7|NM_001378122.1" HGNC:26236 SH3D21 SH3 domain containing 21 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ22938 C1orf113 chromosome 1 open reading frame 113 2005-06-08 2011-02-21 2011-02-21 2023-03-15 79729 ENSG00000214193 OTTHUMG00000007868 uc010oia.2 AK056459 NM_024676 CCDS30674 A4FU49 31844142 MGI:1914188 RGD:1305090 HGNC:26236 "ENST00000453908.8|NM_001162530.2" -HGNC:10830 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SH3P8|SH3D2B|CNSA1|EEN|MGC111371" "extra 11-19 leukemia fusion|fusion partner of MLL|SH3-containing Grb-2-like 1 protein|SH3-containing protein EEN|SH3 domain GRB2-like 1|endophilin A2" "SH3-domain GRB2-like 1|SH3 domain containing GRB2 like 1" N-BAR domain containing 1289 1996-10-26 2016-05-18 2023-01-20 6455 ENSG00000141985 OTTHUMG00000181918 uc002maj.4 NM_003025 "CCDS59335|CCDS32874|CCDS56076" Q99961 9169142 MGI:700010 RGD:708456 SH3GL1 601768 HGNC:10830 "ENST00000269886.7|NM_003025.4" +HGNC:10830 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SH3P8|SH3D2B|CNSA1|EEN|MGC111371" "extra 11-19 leukemia fusion|fusion partner of MLL|SH3-containing Grb-2-like 1 protein|SH3-containing protein EEN|SH3 domain GRB2-like 1|endophilin A2" "SH3-domain GRB2-like 1|SH3 domain containing GRB2 like 1" N-BAR domain containing 1289 1996-10-26 2016-05-18 2023-01-20 6455 ENSG00000141985 OTTHUMG00000181918 uc002maj.4 NM_003025 "CCDS32874|CCDS56076|CCDS59335" Q99961 9169142 MGI:700010 RGD:708456 SH3GL1 601768 HGNC:10830 "ENST00000269886.7|NM_003025.4" HGNC:10835 SH3GL1P1 SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 CNSA-P1 SH3GLP1 "SH3-domain GRB2-like pseudogene 1|SH3 domain containing GRB2 like 1 pseudogene 1" 1996-10-26 2009-12-03 2016-05-18 2017-10-26 6458 ENSG00000266777 OTTHUMG00000179459 X99658 NG_006135.2 9169142 PGOHUM00000294391 HGNC:10835 HGNC:10836 SH3GL1P2 SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 2 pseudogene pseudogene Approved 17q11.2 17q11.2 CNSA-P2 SH3GLP2 "SH3-domain GRB2-like pseudogene 2|SH3 domain containing GRB2 like 1 pseudogene 2" 1996-10-26 2009-12-03 2016-05-18 2016-05-18 6459 ENSG00000264943 OTTHUMG00000178988 X99661 NR_033420 9169142 PGOHUM00000237347 HGNC:10836 HGNC:10837 SH3GL1P3 SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 3 pseudogene pseudogene Approved 17q24.2 17q24.2 CNSA-P3 SH3GLP3 "SH3-domain GRB2-like pseudogene 3|SH3 domain containing GRB2 like 1 pseudogene 3" 1996-10-26 2009-12-03 2016-05-18 2017-10-26 727736 ENSG00000267352 OTTHUMG00000180161 X99662 NR_026577 9169142 PGOHUM00000294210 HGNC:10837 HGNC:10831 SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 protein-coding gene gene with protein product Approved 9p22.2 09p22.2 "SH3P4|SH3D2A|CNSA2|EEN-B1" endophilin-A1 SH3 domain containing GRB2 like 2 N-BAR domain containing 1289 1996-10-26 2016-06-13 2023-01-20 6456 ENSG00000107295 OTTHUMG00000019601 uc003zna.4 X99657 NM_003026 CCDS6483 Q99962 9169142 MGI:700009 RGD:620276 604465 HGNC:10831 "ENST00000380607.5|NM_003026.5" -HGNC:10832 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "SH3D2C|SH3P13|CNSA3|EEN-B2|HsT19371" endophilin A3 SH3 domain containing GRB2 like 3 N-BAR domain containing 1289 1996-10-26 2016-06-13 2023-01-20 6457 ENSG00000140600 OTTHUMG00000147361 uc002bjw.4 AF036271 NM_003027 "CCDS73772|CCDS10325" Q99963 9169142 MGI:700011 RGD:620578 603362 HGNC:10832 "ENST00000427482.7|NM_003027.5" -HGNC:10833 SH3GLB1 SH3 domain containing GRB2 like, endophilin B1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "CGI-61|KIAA0491|Bif-1|PPP1R70" protein phosphatase 1, regulatory subunit 70 SH3-domain, GRB2-like, endophilin B1 "Protein phosphatase 1 regulatory subunits|N-BAR domain containing" "694|1289" 2000-07-31 2017-02-21 2023-01-20 51100 ENSG00000097033 OTTHUMG00000010257 uc001dlw.4 AF263293 NM_016009 "CCDS55613|CCDS710|CCDS55612|CCDS90998|CCDS72819" Q9Y371 "11161816|11259440" MGI:1859730 RGD:1304859 609287 HGNC:10833 "ENST00000370558.8|NM_016009.5" -HGNC:10834 SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 KIAA1848 SH3-domain, GRB2-like, endophilin B2 N-BAR domain containing 1289 2000-07-31 2017-02-21 2023-01-20 56904 ENSG00000148341 OTTHUMG00000020769 uc004bwv.5 AF257319 NM_001287045 "CCDS6916|CCDS69680" Q9NR46 11161816 MGI:2385131 RGD:1305886 609288 HGNC:10834 "ENST00000372564.8|NM_020145.4" -HGNC:13867 SH3KBP1 SH3 domain containing kinase binding protein 1 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 CIN85 Cbl-interacting protein of 85 kDa 2000-12-14 2016-04-28 2023-05-25 30011 ENSG00000147010 OTTHUMG00000021227 uc004czm.4 AF230904 NM_031892 "CCDS94574|CCDS14193|CCDS94569|CCDS94571|CCDS94567|CCDS94566|CCDS94573|CCDS94572|CCDS94565|CCDS55383|CCDS35213|CCDS94568|CCDS94575" Q96B97 "8889549|7566098" MGI:1889583 RGD:620904 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SH3KBP1 300374 HGNC:13867 "ENST00000397821.8|NM_031892.3" HGNC:13867 +HGNC:10832 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "SH3D2C|SH3P13|CNSA3|EEN-B2|HsT19371" endophilin A3 SH3 domain containing GRB2 like 3 N-BAR domain containing 1289 1996-10-26 2016-06-13 2023-01-20 6457 ENSG00000140600 OTTHUMG00000147361 uc002bjw.4 AF036271 NM_003027 "CCDS10325|CCDS73772" Q99963 9169142 MGI:700011 RGD:620578 603362 HGNC:10832 "ENST00000427482.7|NM_003027.5" +HGNC:10833 SH3GLB1 SH3 domain containing GRB2 like, endophilin B1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "CGI-61|KIAA0491|Bif-1|PPP1R70" protein phosphatase 1, regulatory subunit 70 SH3-domain, GRB2-like, endophilin B1 "Protein phosphatase 1 regulatory subunits|N-BAR domain containing" "694|1289" 2000-07-31 2017-02-21 2023-01-20 51100 ENSG00000097033 OTTHUMG00000010257 uc001dlw.4 AF263293 NM_016009 "CCDS55612|CCDS55613|CCDS90998|CCDS72819|CCDS710" Q9Y371 "11161816|11259440" MGI:1859730 RGD:1304859 609287 HGNC:10833 "ENST00000370558.8|NM_016009.5" +HGNC:10834 SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 KIAA1848 SH3-domain, GRB2-like, endophilin B2 N-BAR domain containing 1289 2000-07-31 2017-02-21 2023-01-20 56904 ENSG00000148341 OTTHUMG00000020769 uc004bwv.5 AF257319 NM_001287045 "CCDS69680|CCDS6916" Q9NR46 11161816 MGI:2385131 RGD:1305886 609288 HGNC:10834 "ENST00000372564.8|NM_020145.4" +HGNC:13867 SH3KBP1 SH3 domain containing kinase binding protein 1 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 CIN85 Cbl-interacting protein of 85 kDa 2000-12-14 2016-04-28 2023-05-25 30011 ENSG00000147010 OTTHUMG00000021227 uc004czm.4 AF230904 NM_031892 "CCDS94566|CCDS14193|CCDS35213|CCDS94568|CCDS55383|CCDS94567|CCDS94575|CCDS94573|CCDS94569|CCDS94565|CCDS94574|CCDS94571|CCDS94572" Q96B97 "8889549|7566098" MGI:1889583 RGD:620904 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SH3KBP1 300374 HGNC:13867 "ENST00000397821.8|NM_031892.3" HGNC:13867 HGNC:23664 SH3PXD2A SH3 and PX domains 2A protein-coding gene gene with protein product Approved 10q24.33 10q24.33 "FISH|KIAA0418" five SH3 domains SH3MD1 SH3 multiple domains 1 2003-12-01 2006-02-13 2006-02-13 2023-01-20 9644 ENSG00000107957 OTTHUMG00000018997 uc001kxj.2 AB007878 NM_014631 "CCDS31278|CCDS91343" Q5TCZ1 9687503 MGI:1298393 RGD:1311185 619455 HGNC:23664 "ENST00000369774.9|NM_001394015.1" HGNC:45242 SH3PXD2A-AS1 SH3PXD2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.33 10q24.33 Antisense RNAs 1987 2013-03-11 2018-06-14 100505839 ENSG00000280693 OTTHUMG00000189516 uc057vto.1 AK056784 NR_038940 29734178 SH3PXD2A-AS1 HGNC:45242 -HGNC:29242 SH3PXD2B SH3 and PX domains 2B protein-coding gene gene with protein product Approved 5q35.1 05q35.1 FLJ20831 KIAA1295 KIAA1295 2004-04-16 2006-02-13 2006-02-13 2023-01-20 285590 ENSG00000174705 OTTHUMG00000163280 uc003mbr.3 AK095834 NM_017963 "CCDS34291|CCDS78084" A1X283 10718198 MGI:2442062 RGD:1309926 613293 225343 HGNC:29242 "ENST00000311601.6|NM_001017995.3" HGNC:29242 +HGNC:29242 SH3PXD2B SH3 and PX domains 2B protein-coding gene gene with protein product Approved 5q35.1 05q35.1 FLJ20831 KIAA1295 KIAA1295 2004-04-16 2006-02-13 2006-02-13 2023-01-20 285590 ENSG00000174705 OTTHUMG00000163280 uc003mbr.3 AK095834 NM_017963 "CCDS78084|CCDS34291" A1X283 10718198 MGI:2442062 RGD:1309926 613293 225343 HGNC:29242 "ENST00000311601.6|NM_001017995.3" HGNC:29242 HGNC:17650 SH3RF1 SH3 domain containing ring finger 1 protein-coding gene gene with protein product Approved 4q32.3-q33 04q32.3-q33 "POSH|RNF142|KIAA1494" plenty of SH3 domains SH3MD2 SH3 multiple domains 2 Ring finger proteins 58 2003-12-01 2006-02-13 2006-02-13 2023-01-20 57630 ENSG00000154447 OTTHUMG00000161010 uc003isa.2 BC033203 NM_020870 CCDS34099 Q7Z6J0 9482736 MGI:1913066 RGD:735154 618642 HGNC:17650 "ENST00000284637.14|NM_020870.4" HGNC:26299 SH3RF2 SH3 domain containing ring finger 2 protein-coding gene gene with protein product Approved 5q32 05q32 "FLJ23654|RNF158|Hepp1|POSHER" "heart protein phosphatase 1-binding protein|POSH-eliminating RING protein" PPP1R39 protein phosphatase 1, regulatory subunit 39 "Ring finger proteins|Protein phosphatase 1 regulatory subunits" "58|694" 2004-03-05 2011-11-04 2011-11-04 2023-01-20 153769 ENSG00000156463 OTTHUMG00000129685 uc011dbl.2 AL833297 NM_152550 CCDS4280 Q8TEC5 22128169 MGI:2444628 RGD:1308415 613377 HGNC:26299 "ENST00000359120.9|NM_152550.4" HGNC:24699 SH3RF3 SH3 domain containing ring finger 3 protein-coding gene gene with protein product Approved 2q13 02q13 "FLJ00204|POSH2" SH3MD4 SH3 multiple domains 4 Ring finger proteins 58 2004-03-05 2008-05-14 2008-05-14 2023-01-20 344558 ENSG00000172985 OTTHUMG00000153439 uc010ywt.2 AK074131 NM_001099289 CCDS74557 Q8TEJ3 16374509 MGI:2444637 RGD:1589772 618933 HGNC:24699 "ENST00000309415.8|NM_001099289.3" HGNC:44168 SH3RF3-AS1 SH3RF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q13 02q13 SH3RF3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2016-10-05 100287216 ENSG00000259863 OTTHUMG00000153437 uc061mta.1 NR_029193 SH3RF3-AS1 HGNC:44168 -HGNC:26009 SH3TC1 SH3 domain and tetratricopeptide repeats 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 FLJ20356 Tetratricopeptide repeat domain containing 769 2004-01-08 2023-01-20 54436 ENSG00000125089 OTTHUMG00000160934 uc003gkv.5 AK074093 NM_018986 "CCDS93476|CCDS3399|CCDS93475" Q8TE82 MGI:2678949 RGD:1305610 HGNC:26009 "ENST00000245105.8|NM_018986.5" +HGNC:26009 SH3TC1 SH3 domain and tetratricopeptide repeats 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 FLJ20356 Tetratricopeptide repeat domain containing 769 2004-01-08 2023-01-20 54436 ENSG00000125089 OTTHUMG00000160934 uc003gkv.5 AK074093 NM_018986 "CCDS93475|CCDS93476|CCDS3399" Q8TE82 MGI:2678949 RGD:1305610 HGNC:26009 "ENST00000245105.8|NM_018986.5" HGNC:29427 SH3TC2 SH3 domain and tetratricopeptide repeats 2 protein-coding gene gene with protein product Approved 5q32 05q32 "KIAA1985|CMT4C" "Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes" "769|1691" 2004-12-15 2023-01-20 79628 ENSG00000169247 OTTHUMG00000129930 uc003lpu.4 AK127248 NM_024577 CCDS4293 Q8TF17 14574644 MGI:2444417 RGD:1309038 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_269|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_269.xml" 608206 118693 HGNC:29427 "ENST00000515425.6|NM_024577.4" HGNC:29427 HGNC:52905 SH3TC2-DT SH3TC2 divergent transcript non-coding RNA RNA, long non-coding Approved 5q32 05q32 Divergent transcripts 1990 2017-08-03 2017-08-03 255187 ENSG00000250072 OTTHUMG00000163433 NR_122044 HGNC:52905 -HGNC:29546 SH3YL1 SH3 and SYLF domain containing 1 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "Ray|DKFZP586F1318" SH3 domain containing, Ysc84-like 1 (S. cerevisiae) 2004-01-05 2013-10-18 2023-01-20 26751 ENSG00000035115 OTTHUMG00000151359 uc061fxl.1 NM_015677 "CCDS54332|CCDS62842|CCDS62841|CCDS42646" Q96HL8 21624956 MGI:1346118 RGD:1306440 617314 HGNC:29546 "ENST00000356150.10|NM_015677.4" +HGNC:29546 SH3YL1 SH3 and SYLF domain containing 1 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "Ray|DKFZP586F1318" SH3 domain containing, Ysc84-like 1 (S. cerevisiae) 2004-01-05 2013-10-18 2023-01-20 26751 ENSG00000035115 OTTHUMG00000151359 uc061fxl.1 NM_015677 "CCDS62842|CCDS62841|CCDS54332|CCDS42646" Q96HL8 21624956 MGI:1346118 RGD:1306440 617314 HGNC:29546 "ENST00000356150.10|NM_015677.4" HGNC:15474 SHANK1 SH3 and multiple ankyrin repeat domains 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "SSTRIP|SPANK-1|synamon" somatostatin receptor-interacting protein "Ankyrin repeat domain containing|Sterile alpha motif domain containing|PDZ domain containing" "403|760|1220" 2002-02-22 2023-01-20 50944 ENSG00000161681 OTTHUMG00000137380 uc002psx.1 AF163302 NM_016148 CCDS12799 Q9Y566 10551867 MGI:3613677 RGD:621011 604999 471050 HGNC:15474 "ENST00000293441.6|NM_016148.5" HGNC:15474 HGNC:14295 SHANK2 SH3 and multiple ankyrin repeat domains 2 protein-coding gene gene with protein product Approved 11q13.3-q13.4 11q13.3-q13.4 "CTTNBP1|ProSAP1|SHANK|SPANK-3" CORTBP1 cortactin binding protein 1 "Ankyrin repeat domain containing|Sterile alpha motif domain containing|PDZ domain containing|MicroRNA protein coding host genes" "403|760|1220|1691" 2002-02-22 2023-03-15 22941 ENSG00000162105 OTTHUMG00000154615 uc058etp.1 AF141901 NM_012309 CCDS91527 Q9UPX8 10506216 MGI:2671987 RGD:628772 603290 391835 HGNC:14295 "ENST00000601538.6|NM_012309.5" HGNC:14295 HGNC:40014 SHANK2-AS1 SHANK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 SHANK2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-28 2012-08-15 2014-11-19 100874198 ENSG00000226627 OTTHUMG00000154610 uc001oqe.1 NR_046567 SHANK2-AS1 HGNC:40014 @@ -35201,8 +35204,8 @@ HGNC:25098 SHANK2-AS3 SHANK2 antisense RNA 3 non-coding RNA RNA, long non-coding HGNC:14294 SHANK3 SH3 and multiple ankyrin repeat domains 3 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "SPANK-2|prosap2|KIAA1650|PSAP2" "proline rich synapse associated protein 2|shank3 postsynaptic density protein" "Ankyrin repeat domain containing|Sterile alpha motif domain containing|PDZ domain containing" "403|760|1220" 2002-02-22 2023-03-15 85358 ENSG00000251322 OTTHUMG00000150169 uc062fon.2 AB051437 NM_001080420 Q9BYB0 "11258795|11431708|10806096|17173049" MGI:1930016 RGD:69264 606230 118697 HGNC:14294 HGNC:14294 HGNC:25321 SHARPIN SHANK associated RH domain interactor protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "DKFZP434N1923|SIPL1" "Zinc fingers RANBP2-type |Linear ubiquitin chain assembly complex " "89|1390" 2005-08-09 2015-11-20 2023-01-20 81858 ENSG00000179526 OTTHUMG00000165243 uc003zba.4 AL136816 NM_030974 CCDS43777 Q9H0F6 "11178875|12753155" MGI:1913331 RGD:631353 611885 471052 HGNC:25321 "ENST00000398712.7|NM_030974.4" HGNC:10838 SHB SH2 domain containing adaptor protein B protein-coding gene gene with protein product Approved 9p13.1 09p13.1 "SHB adaptor protein (a Src homology 2 protein)|SHB (Src homology 2 domain containing) adaptor protein B|Src homology 2 domain containing adaptor protein B" SH2 domain containing 741 1994-09-15 2016-04-11 2023-01-20 6461 ENSG00000107338 OTTHUMG00000019936 uc004aax.4 NM_003028 CCDS43806 Q15464 7713524 MGI:98294 RGD:1565350 600314 HGNC:10838 "ENST00000377707.4|NM_003028.3" -HGNC:10839 SHBG sex hormone binding globulin protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "ABP|TEBG|MGC126834|MGC138391" androgen binding protein sex hormone-binding globulin 1990-03-14 2016-04-04 2023-01-20 6462 ENSG00000129214 OTTHUMG00000108153 uc002gie.4 NM_001040 "CCDS58513|CCDS73962|CCDS11117|CCDS54082|CCDS54083|CCDS73961" P04278 2587256 MGI:98295 RGD:3671 182205 HGNC:10839 "ENST00000380450.9|NM_001040.5" -HGNC:10840 SHC1 SHC adaptor protein 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "p66|ShcA" SHC SHC (Src homology 2 domain-containing) transforming protein 1 SH2 domain containing 741 1993-02-17 2016-05-16 2023-01-20 6464 ENSG00000160691 OTTHUMG00000037295 uc001ffx.4 U73377 NM_183001 "CCDS1076|CCDS30881|CCDS44233|CCDS44234" P29353 1623525 MGI:98296 RGD:620446 600560 HGNC:10840 "ENST00000448116.7|NM_001130040.2" +HGNC:10839 SHBG sex hormone binding globulin protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "ABP|TEBG|MGC126834|MGC138391" androgen binding protein sex hormone-binding globulin 1990-03-14 2016-04-04 2023-01-20 6462 ENSG00000129214 OTTHUMG00000108153 uc002gie.4 NM_001040 "CCDS54083|CCDS58513|CCDS73961|CCDS11117|CCDS54082|CCDS73962" P04278 2587256 MGI:98295 RGD:3671 182205 HGNC:10839 "ENST00000380450.9|NM_001040.5" +HGNC:10840 SHC1 SHC adaptor protein 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "p66|ShcA" SHC SHC (Src homology 2 domain-containing) transforming protein 1 SH2 domain containing 741 1993-02-17 2016-05-16 2023-01-20 6464 ENSG00000160691 OTTHUMG00000037295 uc001ffx.4 U73377 NM_183001 "CCDS1076|CCDS44234|CCDS44233|CCDS30881" P29353 1623525 MGI:98296 RGD:620446 600560 HGNC:10840 "ENST00000448116.7|NM_001130040.2" HGNC:10841 SHC1P1 SHC adaptor protein 1 pseudogene 1 pseudogene pseudogene Approved Xq11.2 Xq11.2 SHC (Src homology 2 domain-containing) transforming protein 1 pseudogene 1 1997-05-09 2016-05-16 2016-10-05 6465 ENSG00000230889 OTTHUMG00000021706 Y09846 NG_001195 9192859 PGOHUM00000241811 HGNC:10841 HGNC:10842 SHC1P2 SHC adaptor protein 1 pseudogene 2 pseudogene pseudogene Approved 17q21.31 17q21.31 SHCL1 SHC (Src homology 2 domain-containing) transforming protein-like 1 1994-09-15 2010-10-27 2016-05-16 2017-10-26 6466 ENSG00000267691 OTTHUMG00000181814 NG_004765 7635484 600739 PGOHUM00000294124 HGNC:10842 HGNC:29869 SHC2 SHC adaptor protein 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SLI|SCK|SHCB" neuronal Shc adaptor homolog SHC (Src homology 2 domain containing) transforming protein 2 SH2 domain containing 741 2004-03-18 2016-05-16 2023-01-20 25759 ENSG00000129946 OTTHUMG00000180545 uc002loq.4 AB001451 NM_001387056 CCDS45891 P98077 "7527937|9507002" MGI:106180 RGD:1307137 605217 HGNC:29869 "ENST00000264554.11|NM_012435.3" @@ -35212,16 +35215,16 @@ HGNC:29547 SHCBP1 SHC binding and spindle associated 1 protein-coding gene gene HGNC:16788 SHCBP1L SHC binding and spindle associated 1 like protein-coding gene gene with protein product Approved 1q25.3 01q25.3 C1orf14 "chromosome 1 open reading frame 14|SHC SH2-domain binding protein 1-like" 2001-10-08 2011-01-24 2016-04-22 2023-01-20 81626 ENSG00000157060 OTTHUMG00000035419 uc001gpu.4 AF288397 NM_030933 CCDS30955 Q9BZQ2 "11318611|24557841" MGI:1919086 RGD:1305609 619514 HGNC:16788 "ENST00000367547.8|NM_030933.4" HGNC:30633 SHD Src homology 2 domain containing transforming protein D protein-coding gene gene with protein product Approved 19p13.3 19p13.3 SH2 domain containing 741 2005-05-24 2023-01-20 56961 ENSG00000105251 OTTHUMG00000181879 uc002lzw.3 BC007206 NM_020209 CCDS12125 Q96IW2 9315092 MGI:1099461 RGD:1590885 610481 HGNC:30633 "ENST00000543264.7|NM_020209.4" HGNC:27004 SHE Src homology 2 domain containing E protein-coding gene gene with protein product Approved 1q21.3 01q21.3 SH2 domain containing 741 2005-05-24 2023-01-20 126669 ENSG00000169291 OTTHUMG00000036072 uc001ffb.4 AK074067 NM_001010846 CCDS30877 Q5VZ18 9315092 MGI:1099462 RGD:1583215 610482 HGNC:27004 "ENST00000304760.3|NM_001010846.3" -HGNC:25116 SHF Src homology 2 domain containing F protein-coding gene gene with protein product Approved 15q21.1 15q21.1 SH2 domain containing 741 2005-05-24 2023-01-20 90525 ENSG00000138606 OTTHUMG00000131353 uc001zuy.3 BC007586 NM_138356 "CCDS10120|CCDS73721|CCDS91994|CCDS76750|CCDS76749|CCDS91993" Q7M4L6 11095946 MGI:3613669 RGD:1562705 617313 HGNC:25116 "ENST00000690270.1|NM_001394037.1" +HGNC:25116 SHF Src homology 2 domain containing F protein-coding gene gene with protein product Approved 15q21.1 15q21.1 SH2 domain containing 741 2005-05-24 2023-01-20 90525 ENSG00000138606 OTTHUMG00000131353 uc001zuy.3 BC007586 NM_138356 "CCDS76749|CCDS91993|CCDS91994|CCDS10120|CCDS76750|CCDS73721" Q7M4L6 11095946 MGI:3613669 RGD:1562705 617313 HGNC:25116 "ENST00000690270.1|NM_001394037.1" HGNC:25649 SHFL shiftless antiviral inhibitor of ribosomal frameshifting protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ11286|RyDEN|IRAV|SFL" "repressor of yield of Dengue virus|interferon-regulated antiviral gene|shiftless" C19orf66 chromosome 19 open reading frame 66 2008-06-12 2019-04-18 2019-04-18 2023-01-20 55337 ENSG00000130813 OTTHUMG00000180393 uc002mmu.5 NM_018381 "CCDS45957|CCDS77231" Q9NUL5 "26735137|27974568|30682371" MGI:2441788 RGD:1565995 616808 HGNC:25649 "ENST00000253110.16|NM_018381.4" HGNC:10848 SHH sonic hedgehog signaling molecule protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "HHG1|SMMCI|TPT|TPTPS|MCOPCB5" "HPE3|HLP3" sonic hedgehog (Drosophila) homolog Hedgehog signaling molecule family 1373 1995-03-10 2018-11-15 2023-01-20 6469 ENSG00000164690 OTTHUMG00000151349 uc003wmk.2 NM_000193 CCDS5942 Q15465 7590746 MGI:98297 RGD:3673 600725 118703 C46.002 HGNC:10848 "ENST00000297261.7|NM_000193.4" HGNC:10848 HGNC:20366 SHISA2 shisa family member 2 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "bA398O19.2|PRO28631|WGAR9166|hShisa" "C13orf13|TMEM46" "chromosome 13 open reading frame 13|transmembrane protein 46|shisa homolog 2 (Xenopus laevis)" Shisa family members 742 2004-04-16 2008-04-01 2013-07-31 2023-01-20 387914 ENSG00000180730 OTTHUMG00000016612 uc001uqm.2 NM_001007538 CCDS31951 Q6UWI4 MGI:2444716 RGD:1561256 617324 HGNC:20366 "ENST00000319420.4|NM_001007538.2" HGNC:25159 SHISA3 shisa family member 3 protein-coding gene gene with protein product Approved 4p13 04p13 hShisa3 shisa homolog 3 (Xenopus laevis) Shisa family members 742 2008-04-01 2013-07-31 2023-01-20 152573 ENSG00000178343 OTTHUMG00000161043 uc003gwp.3 BC012029 NM_001080505 CCDS33979 A0PJX4 MGI:3041225 RGD:1565710 617325 HGNC:25159 "ENST00000319234.5|NM_001080505.3" HGNC:27139 SHISA4 shisa family member 4 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 hShisa4 "C1orf40|TMEM58" "chromosome 1 open reading frame 40|transmembrane protein 58|shisa homolog 4 (Xenopus laevis)" Shisa family members 742 2004-01-09 2008-04-01 2013-07-31 2023-01-20 149345 ENSG00000198892 OTTHUMG00000035807 uc001gxa.4 AY358589 NM_198149 CCDS1416 Q96DD7 12975309 MGI:1924802 RGD:1312041 617326 HGNC:27139 "ENST00000362011.7|NM_198149.3" -HGNC:30376 SHISA5 shisa family member 5 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SCOTIN|hShisa5" shisa homolog 5 (Xenopus laevis) Shisa family members 742 2008-04-01 2013-07-31 2023-01-20 51246 ENSG00000164054 OTTHUMG00000133529 uc031rzr.2 AF520698 NM_016479 "CCDS63623|CCDS63622|CCDS2770|CCDS63621" Q8N114 "11042152|12135983" MGI:1915044 RGD:1359661 607290 HGNC:30376 "ENST00000296444.7|NM_016479.6" +HGNC:30376 SHISA5 shisa family member 5 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SCOTIN|hShisa5" shisa homolog 5 (Xenopus laevis) Shisa family members 742 2008-04-01 2013-07-31 2023-01-20 51246 ENSG00000164054 OTTHUMG00000133529 uc031rzr.2 AF520698 NM_016479 "CCDS63622|CCDS63623|CCDS63621|CCDS2770" Q8N114 "11042152|12135983" MGI:1915044 RGD:1359661 607290 HGNC:30376 "ENST00000296444.7|NM_016479.6" HGNC:54937 SHISA5P1 SHISA5 pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-30 2020-04-30 643043 ENSG00000226641 NG_046875 HGNC:54993 SHISA5P2 SHISA5 pseudogene 2 pseudogene pseudogene Approved Xq13.2 Xq13.2 2020-05-15 2020-05-15 101928425 ENSG00000203397 NG_046876 -HGNC:34491 SHISA6 shisa family member 6 protein-coding gene gene with protein product Approved 17p12 17p12 FLJ45455 shisa homolog 6 (Xenopus laevis) Shisa family members 742 2009-08-12 2013-07-31 2023-01-20 388336 ENSG00000188803 OTTHUMG00000154121 uc002gnc.3 "AK127379|AK128003" NM_207386 "CCDS54090|CCDS45615|CCDS54089" Q6ZSJ9 MGI:2685725 RGD:1564618 617327 HGNC:34491 "ENST00000441885.8|NM_207386.4" +HGNC:34491 SHISA6 shisa family member 6 protein-coding gene gene with protein product Approved 17p12 17p12 FLJ45455 shisa homolog 6 (Xenopus laevis) Shisa family members 742 2009-08-12 2013-07-31 2023-01-20 388336 ENSG00000188803 OTTHUMG00000154121 uc002gnc.3 "AK127379|AK128003" NM_207386 "CCDS45615|CCDS54090|CCDS54089" Q6ZSJ9 MGI:2685725 RGD:1564618 617327 HGNC:34491 "ENST00000441885.8|NM_207386.4" HGNC:35409 SHISA7 shisa family member 7 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 shisa homolog 7 (Xenopus laevis) Shisa family members 742 2009-09-30 2013-07-31 2023-01-20 729956 ENSG00000187902 OTTHUMG00000154240 uc002qkz.4 NM_001145176 CCDS46193 A6NL88 MGI:3605641 RGD:1583944 617328 HGNC:35409 "ENST00000376325.10|NM_001145176.2" HGNC:18351 SHISA8 shisa family member 8 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 Orf26 C22orf17 "chromosome 22 open reading frame 17|shisa homolog 8 (Xenopus laevis)" Shisa family members 742 2002-04-03 2009-09-30 2013-07-31 2023-01-20 440829 ENSG00000234965 OTTHUMG00000151273 uc021wqh.1 AI763350 NM_001207020 CCDS74872 B8ZZ34 MGI:2146080 RGD:1563996 617329 HGNC:18351 "ENST00000621082.2|NM_001207020.3" HGNC:37231 SHISA9 shisa family member 9 protein-coding gene gene with protein product Approved 16p13.12 16p13.12 shisa homolog 9 (Xenopus laevis) Shisa family members 742 2009-10-02 2013-07-31 2023-01-20 729993 ENSG00000237515 OTTHUMG00000154258 uc010uyy.3 NM_001145204 "CCDS45417|CCDS45418" B4DS77 MGI:1919805 RGD:2320726 613346 HGNC:37231 "ENST00000558583.3|NM_001145204.3" @@ -35229,52 +35232,52 @@ HGNC:29335 SHISAL1 shisa like 1 protein-coding gene gene with protein product Ap HGNC:28757 SHISAL2A shisa like 2A protein-coding gene gene with protein product Approved 1p32.3 01p32.3 MGC52498 FAM159A "family with sequence similarity 159, member A|family with sequence similarity 159 member A" 2008-06-05 2017-10-12 2017-10-12 2023-01-20 348378 ENSG00000182183 OTTHUMG00000008330 uc001cuf.4 NM_001042693 CCDS41336 Q6UWV7 22120523 MGI:3651644 RGD:1593542 620218 HGNC:28757 "ENST00000517870.2|NM_001042693.3" HGNC:34236 SHISAL2B shisa like 2B protein-coding gene gene with protein product Approved 5q12.3 05q12.3 FAM159B "family with sequence similarity 159, member B|family with sequence similarity 159 member B" 2008-06-05 2017-10-12 2017-10-12 2023-01-20 100132916 ENSG00000145642 OTTHUMG00000162292 uc021xzg.2 NM_001164442 CCDS47220 A6NKW6 22120523 MGI:1925053 RGD:1564672 620219 HGNC:34236 "ENST00000389074.6|NM_001164442.2" HGNC:19214 SHKBP1 SH3KBP1 binding protein 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PP203|Sb1" WD repeat domain containing 362 2005-01-12 2023-01-20 92799 ENSG00000160410 OTTHUMG00000182602 uc002oob.4 AF258553 NM_138392 CCDS12560 Q8TBC3 11152963 MGI:2385803 RGD:1309281 617322 HGNC:19214 "ENST00000291842.10|NM_138392.4" HGNC:19214 -HGNC:26318 SHLD1 shieldin complex subunit 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "FLJ25067|RINN3" C20orf196 chromosome 20 open reading frame 196 Shieldin complex 1656 2006-07-07 2018-04-23 2018-04-23 2023-01-20 149840 ENSG00000171984 OTTHUMG00000031813 uc002wmf.4 AK057796 NM_152504 "CCDS77565|CCDS13091" Q8IYI0 "29656893|30022119|30022158|30022168|30046110" MGI:1920997 RGD:1597982 618028 HGNC:26318 "ENST00000303142.11|NM_152504.4" +HGNC:26318 SHLD1 shieldin complex subunit 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "FLJ25067|RINN3" C20orf196 chromosome 20 open reading frame 196 Shieldin complex 1656 2006-07-07 2018-04-23 2018-04-23 2023-01-20 149840 ENSG00000171984 OTTHUMG00000031813 uc002wmf.4 AK057796 NM_152504 "CCDS13091|CCDS77565" Q8IYI0 "29656893|30022119|30022158|30022168|30046110" MGI:1920997 RGD:1597982 618028 HGNC:26318 "ENST00000303142.11|NM_152504.4" HGNC:28773 SHLD2 shieldin complex subunit 2 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "MGC5560|bA163M19.1|FAM35A1|RINN2" FAM35A "family with sequence similarity 35, member A|family with sequence similarity 35 member A" Shieldin complex 1656 2004-04-16 2018-04-23 2018-04-23 2023-01-20 54537 ENSG00000122376 OTTHUMG00000018669 uc001kei.5 BC051863 NM_019054 "CCDS81484|CCDS7383" Q86V20 "27899376|29656893|30022119|30022158|30022168|30046110" MGI:1922948 RGD:1565067 618029 HGNC:28773 "ENST00000298786.5|NM_001330112.2" HGNC:31425 SHLD2P1 shieldin complex subunit 2 pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 bA38L15.1 "FAM35B|FAM35EP|FAM35BP" "family with sequence similarity 35, member B|family with sequence similarity 35, member E, pseudogene|family with sequence similarity 35, member B, pseudogene|family with sequence similarity 35 member B, pseudogene" 2004-05-27 2018-07-19 2018-07-19 2018-07-19 414241 ENSG00000165874 OTTHUMG00000018104 NR_027632 PGOHUM00000263361 HGNC:31425 HGNC:31427 SHLD2P2 shieldin complex subunit 2 pseudogene 2 pseudogene pseudogene Approved 14q31.3 14q31.3 "FAM35AP|FAM35A2|FAM35CP" "family with sequence similarity 35, member A pseudogene|family with sequence similarity 35, member A2 (pseudogene)|family with sequence similarity 35, member C, pseudogene|family with sequence similarity 35 member C, pseudogene" 2004-04-16 2018-07-19 2018-07-19 2018-07-19 100128781 ENSG00000259096 OTTHUMG00000170727 NG_008816 PGOHUM00000267700 HGNC:31427 HGNC:34038 SHLD2P3 shieldin complex subunit 2 pseudogene 3 pseudogene pseudogene Approved 10q11.22 10q11.22 "FAM35B2|FAM35DP" "family with sequence similarity 35, member B2|family with sequence similarity 35, member B2 (pseudogene)|family with sequence similarity 35, member D, pseudogene|family with sequence similarity 35 member D, pseudogene" 2008-03-28 2018-07-19 2018-07-19 2018-07-19 439965 ENSG00000189014 OTTHUMG00000018121 NR_027634.1 PGOHUM00000238772 HGNC:34038 HGNC:53826 SHLD3 shieldin complex subunit 3 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "AC008560.1|FLJ26957|CTC-534A2.2|RINN1" Shieldin complex 1656 2018-04-23 2019-12-06 112441434 ENSG00000253251 OTTHUMG00000162694 NM_001365341 Q6ZNX1 "29656893|30022119|30022158|30022168|30046110" MGI:6194609 RGD:41350418 618030 HGNC:53826 "ENST00000510585.3|NM_001365341.2" -HGNC:10850 SHMT1 serine hydroxymethyltransferase 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "cSHMT|SHMT|MGC15229|MGC24556" "cytoplasmic serine hydroxymethyltransferase|14 kDa protein" serine hydroxymethyltransferase 1 (soluble) "MicroRNA protein coding host genes|Serine hydroxymethyltransferase family" "1691|2142" 1993-07-12 2016-04-04 2023-01-20 6470 ENSG00000176974 OTTHUMG00000059094 uc002gta.5 NM_004169 "CCDS62112|CCDS11197|CCDS11196" P34896 8505317 MGI:98299 RGD:1312011 182144 471054 2.1.2.1 HGNC:10850 "ENST00000316694.8|NM_004169.5" +HGNC:10850 SHMT1 serine hydroxymethyltransferase 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "cSHMT|SHMT|MGC15229|MGC24556" "cytoplasmic serine hydroxymethyltransferase|14 kDa protein" serine hydroxymethyltransferase 1 (soluble) "MicroRNA protein coding host genes|Serine hydroxymethyltransferase family" "1691|2142" 1993-07-12 2016-04-04 2023-01-20 6470 ENSG00000176974 OTTHUMG00000059094 uc002gta.5 NM_004169 "CCDS11197|CCDS11196|CCDS62112" P34896 8505317 MGI:98299 RGD:1312011 182144 471054 2.1.2.1 HGNC:10850 "ENST00000316694.8|NM_004169.5" HGNC:10851 SHMT1P1 SHMT1 pseudogene 1 pseudogene pseudogene Approved 1p34.1 01p34.1 SHMT-ps1 SHMT1P "serine hydroxymethyltransferase 1 (soluble) pseudogene|serine hydroxymethyltransferase 1 (soluble) pseudogene 1" 1997-07-01 2010-04-22 2022-06-13 2022-06-14 6471 ENSG00000224751 OTTHUMG00000007558 X85980 NG_002289 8786078 PGOHUM00000243989 HGNC:10851 -HGNC:10852 SHMT2 serine hydroxymethyltransferase 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 mSHMT mitochondrial serine hydroxymethyltransferase SHMT serine hydroxymethyltransferase 2 (mitochondrial) Serine hydroxymethyltransferase family 2142 1986-01-01 2016-03-11 2023-01-20 6472 ENSG00000182199 OTTHUMG00000171246 uc001snf.3 AK223555 NM_005412 "CCDS55837|CCDS53805|CCDS8934" P34897 "8999870|29452640" MGI:1277989 RGD:1308582 138450 2.1.2.1 HGNC:10852 "ENST00000328923.8|NM_005412.6" HGNC:10852 -HGNC:26535 SHOC1 shortage in chiasmata 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "FLJ32779|Zip2|MZIP2" C9orf84 chromosome 9 open reading frame 84 2004-01-29 2018-10-12 2018-10-12 2023-01-20 158401 ENSG00000165181 OTTHUMG00000020495 uc004bfr.5 AL833535 NM_173521 "CCDS94461|CCDS43863|CCDS6781|CCDS94459" Q5VXU9 "21771883|29742103" MGI:2140313 RGD:1586646 618038 HGNC:26535 "ENST00000682961.1|NM_001378211.1" HGNC:26535 +HGNC:10852 SHMT2 serine hydroxymethyltransferase 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 mSHMT mitochondrial serine hydroxymethyltransferase SHMT serine hydroxymethyltransferase 2 (mitochondrial) Serine hydroxymethyltransferase family 2142 1986-01-01 2016-03-11 2023-01-20 6472 ENSG00000182199 OTTHUMG00000171246 uc001snf.3 AK223555 NM_005412 "CCDS53805|CCDS55837|CCDS8934" P34897 "8999870|29452640" MGI:1277989 RGD:1308582 138450 2.1.2.1 HGNC:10852 "ENST00000328923.8|NM_005412.6" HGNC:10852 +HGNC:26535 SHOC1 shortage in chiasmata 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "FLJ32779|Zip2|MZIP2" C9orf84 chromosome 9 open reading frame 84 2004-01-29 2018-10-12 2018-10-12 2023-01-20 158401 ENSG00000165181 OTTHUMG00000020495 uc004bfr.5 AL833535 NM_173521 "CCDS6781|CCDS94459|CCDS94461|CCDS43863" Q5VXU9 "21771883|29742103" MGI:2140313 RGD:1586646 618038 HGNC:26535 "ENST00000682961.1|NM_001378211.1" HGNC:26535 HGNC:15454 SHOC2 SHOC2 leucine rich repeat scaffold protein protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "KIAA0862|SOC2|SUR-8|SOC-2|SUR8" "soc-2 (suppressor of clear, C.elegans) homolog|soc-2 suppressor of clear homolog (C. elegans)|SHOC2 leucine-rich repeat scaffold protein|SHOC2, leucine rich repeat scaffold protein" MicroRNA protein coding host genes 1691 2001-03-30 2019-01-22 2023-01-20 8036 ENSG00000108061 OTTHUMG00000019047 uc001kzl.5 AB020669 NM_007373 "CCDS7568|CCDS58095" Q9UQ13 "9618511|9674433|10783161" MGI:1927197 RGD:1308146 LRG_753|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_753.xml 602775 220877 HGNC:15454 "ENST00000369452.9|NM_007373.4" HGNC:15454 -HGNC:10853 SHOX SHOX homeobox protein-coding gene gene with protein product Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 "PHOG|GCFX|SS|SHOXY|SHOX1" pseudoautosomal homeobox-containing osteogenic gene short stature homeobox "PRD class homeoboxes and pseudogenes|Pseudoautosomal region 1" "521|715" 1998-06-05 2023-06-01 2023-06-01 6473 ENSG00000185960 OTTHUMG00000021053 uc004fou.1 U82668 NM_000451 "CCDS14107|CCDS14106" O15266 "9259282|9140395" RGD:1586239 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SHOX|University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=SHOX|LRG_710|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_710.xml" "312865|400020" 8626 118707 HGNC:10853 "ENST00000686671.1|NM_000451.4" HGNC:10853 -HGNC:10854 SHOX2 SHOX homeobox 2 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "SHOT|OG12X|OG12" SHOX homologous gene on chromosome 3 short stature homeobox 2 PRD class homeoboxes and pseudogenes 521 1998-06-05 2023-06-01 2023-06-01 6474 ENSG00000168779 OTTHUMG00000158755 uc003fbs.4 AJ002368 NM_001163678 "CCDS33884|CCDS43164|CCDS54664" O60902 "9482898|9466998" MGI:1201673 RGD:3674 602504 8510 471056 HGNC:10854 "ENST00000483851.7|NM_001163678.2" HGNC:10854 +HGNC:10853 SHOX SHOX homeobox protein-coding gene gene with protein product Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 "PHOG|GCFX|SS|SHOXY|SHOX1" pseudoautosomal homeobox-containing osteogenic gene short stature homeobox "PRD class homeoboxes and pseudogenes|Pseudoautosomal region 1" "521|715" 1998-06-05 2023-06-01 2023-06-01 6473 ENSG00000185960 OTTHUMG00000021053 uc004fou.1 U82668 NM_000451 "CCDS14106|CCDS14107" O15266 "9259282|9140395" RGD:1586239 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SHOX|University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=SHOX|LRG_710|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_710.xml" "312865|400020" 8626 118707 HGNC:10853 "ENST00000686671.1|NM_000451.4" HGNC:10853 +HGNC:10854 SHOX2 SHOX homeobox 2 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "SHOT|OG12X|OG12" SHOX homologous gene on chromosome 3 short stature homeobox 2 PRD class homeoboxes and pseudogenes 521 1998-06-05 2023-06-01 2023-06-01 6474 ENSG00000168779 OTTHUMG00000158755 uc003fbs.4 AJ002368 NM_001163678 "CCDS43164|CCDS54664|CCDS33884" O60902 "9482898|9466998" MGI:1201673 RGD:3674 602504 8510 471056 HGNC:10854 "ENST00000483851.7|NM_001163678.2" HGNC:10854 HGNC:1492 SHPK sedoheptulokinase protein-coding gene gene with protein product Approved 17p13.2 17p13.2 SHK CARKL carbohydrate kinase-like 1999-06-22 2008-02-08 2008-02-08 2023-01-20 23729 ENSG00000197417 OTTHUMG00000090694 uc002fvz.1 AF163573 NM_013276 CCDS11030 Q9UHJ6 "10673275|18186520" MGI:1921887 RGD:1308004 605060 444924 2.7.1.14 HGNC:1492 "ENST00000225519.5|NM_013276.4" HGNC:1492 HGNC:19336 SHPRH SNF2 histone linker PHD RING helicase protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "FLJ90837|KIAA2023|bA545I5.2" SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase "Ring finger proteins|PHD finger proteins" "58|88" 2002-11-26 2016-03-11 2023-01-20 257218 ENSG00000146414 OTTHUMG00000015750 uc063sbq.1 AB095943 NM_173082 "CCDS43513|CCDS47496" Q149N8 12837266 MGI:1917581 RGD:1310342 608048 HGNC:19336 "ENST00000275233.12|NM_001042683.3" HGNC:25543 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor protein-coding gene gene with protein product Approved 3p13 03p13 "FLJ10539|Shq1p" SHQ1 homolog (S. cerevisiae) 2005-02-08 2013-01-08 2023-01-20 55164 ENSG00000144736 OTTHUMG00000158814 uc003dpf.4 BC025270 NM_018130 CCDS33788 Q6PI26 "19383767|25553844" MGI:1919421 RGD:1310610 613663 HGNC:25543 "ENST00000325599.13|NM_018130.3" HGNC:45013 SHQ1P1 SHQ1, H/ACA ribonucleoprotein assembly factor pseudogene 1 pseudogene pseudogene Approved 10q11.23 10q11.23 2013-01-08 2016-08-17 644451 ENSG00000231588 OTTHUMG00000018229 NG_022146 PGOHUM00000289863 HGNC:45013 -HGNC:24084 SHROOM1 shroom family member 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "APXL2|KIAA1960" Shroom family 1971 2006-07-20 2023-01-20 134549 ENSG00000164403 OTTHUMG00000059835 uc003kxy.3 AF314142 NM_133456 "CCDS54902|CCDS4161|CCDS93780" Q2M3G4 "11853319|16615870" MGI:1919024 RGD:1308066 611179 HGNC:24084 "ENST00000378679.8|NM_001172700.2" +HGNC:24084 SHROOM1 shroom family member 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "APXL2|KIAA1960" Shroom family 1971 2006-07-20 2023-01-20 134549 ENSG00000164403 OTTHUMG00000059835 uc003kxy.3 AF314142 NM_133456 "CCDS4161|CCDS54902|CCDS93780" Q2M3G4 "11853319|16615870" MGI:1919024 RGD:1308066 611179 HGNC:24084 "ENST00000378679.8|NM_001172700.2" HGNC:630 SHROOM2 shroom family member 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 APXL "apical protein, Xenopus laevis-like|apical protein-like (Xenopus laevis)" "PDZ domain containing|Shroom family" "1220|1971" 1995-06-13 2006-07-20 2006-07-20 2023-01-20 357 ENSG00000146950 OTTHUMG00000021121 uc004csu.2 X83543 NM_001649 "CCDS83453|CCDS14135" Q13796 "7795590|16615870" MGI:107194 RGD:1565163 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SHROOM2 300103 HGNC:630 "ENST00000380913.8|NM_001649.4" HGNC:631 SHROOM2P1 shroom family member 2 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 APXLP "apical protein, Xenopus laevis-like, pseudogene|apical protein-like (Xenopus laevis) pseudogene" 1999-05-17 2010-05-05 2010-05-05 2016-10-05 10031 ENSG00000226863 OTTHUMG00000036466 AC004617 NG_002803 PGOHUM00000233957 HGNC:631 HGNC:30422 SHROOM3 shroom family member 3 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "ShrmL|SHRM|KIAA1481|APXL3" "PDZ domain containing|MicroRNA protein coding host genes|Shroom family" "1220|1691|1971" 2006-07-20 2023-01-20 57619 ENSG00000138771 OTTHUMG00000157075 uc011cbx.3 AB055660 NM_020859 CCDS3579 Q8TF72 "10589677|16615870" MGI:1351655 RGD:1310470 604570 471058 HGNC:30422 "ENST00000296043.7|NM_020859.4" HGNC:41265 SHROOM3-AS1 SHROOM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.1 04q21.1 Antisense RNAs 1987 2020-03-20 2020-03-20 105377289 ENSG00000233860 OTTHUMG00000157074 XR_938903 HGNC:29215 SHROOM4 shroom family member 4 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 KIAA1202 "PDZ domain containing|Shroom family" "1220|1971" 2006-07-20 2023-01-20 57477 ENSG00000158352 OTTHUMG00000021521 uc064zgo.1 AB033028 NM_020717 CCDS35277 Q9ULL8 "10574462|16615870" MGI:2685570 RGD:1563434 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SHROOM4 300579 118713 HGNC:29215 "ENST00000376020.9|NM_020717.5" HGNC:29215 -HGNC:29319 SHTN1 shootin 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "shootin1|shootin-1" KIAA1598 KIAA1598 2004-03-16 2015-05-22 2015-05-22 2023-01-20 57698 ENSG00000187164 OTTHUMG00000019114 BC022348 NM_018330 "CCDS73208|CCDS58097|CCDS44482|CCDS31293|CCDS73207" A0MZ66 "10997877|17030985" MGI:1918903 RGD:1311558 611171 HGNC:29319 "ENST00000355371.9|NM_001127211.3" +HGNC:29319 SHTN1 shootin 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "shootin1|shootin-1" KIAA1598 KIAA1598 2004-03-16 2015-05-22 2015-05-22 2023-01-20 57698 ENSG00000187164 OTTHUMG00000019114 BC022348 NM_018330 "CCDS44482|CCDS58097|CCDS31293|CCDS73208|CCDS73207" A0MZ66 "10997877|17030985" MGI:1918903 RGD:1311558 611171 HGNC:29319 "ENST00000355371.9|NM_001127211.3" HGNC:10856 SI sucrase-isomaltase protein-coding gene gene with protein product Approved 3q26.1 03q26.1 "Oligosaccharide alpha-1,6-glucosidase|Oligo-1,6-glucosidase|alpha-glucosidase|Alpha-methylglucosidase" sucrase-isomaltase (alpha-glucosidase) Glycoside hydrolase family 31 1413 1986-01-01 2016-04-05 2023-01-20 6476 ENSG00000090402 OTTHUMG00000158065 uc003fei.3 X63597 NM_001041 CCDS3196 P14410 "2962903|1353958" MGI:1917233 RGD:3675 609845 118716 "3.2.1.10|3.2.1.48" HGNC:10856 "ENST00000264382.8|NM_001041.4" HGNC:10856 HGNC:18187 SIAE sialic acid acetylesterase protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "CSE-C|MGC87009|LSE" sialic acid-specific acetylesterase II YSG2 Ysg2 homolog (mouse) 2005-09-13 2005-12-15 2005-12-15 2023-01-20 54414 ENSG00000110013 OTTHUMG00000165926 uc001qan.4 AF300796 NM_170601 "CCDS55795|CCDS8449" Q9HAT2 10464298 MGI:104803 RGD:1310431 610079 HGNC:18187 "ENST00000263593.8|NM_170601.5" HGNC:18187 -HGNC:10857 SIAH1 siah E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 hSIAH1 seven in absentia homolog 1 (Drosophila) Ring finger proteins 58 1997-09-12 2012-02-23 2023-01-20 6477 ENSG00000196470 OTTHUMG00000175417 uc002efo.3 U76247 NM_001006610 "CCDS10735|CCDS32444" Q8IUQ4 "9403064|9334332" MGI:108064 RGD:620449 602212 HGNC:10857 "ENST00000394725.3|NM_003031.4" HGNC:10857 +HGNC:10857 SIAH1 siah E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 hSIAH1 seven in absentia homolog 1 (Drosophila) Ring finger proteins 58 1997-09-12 2012-02-23 2023-01-20 6477 ENSG00000196470 OTTHUMG00000175417 uc002efo.3 U76247 NM_001006610 "CCDS32444|CCDS10735" Q8IUQ4 "9403064|9334332" MGI:108064 RGD:620449 602212 HGNC:10857 "ENST00000394725.3|NM_003031.4" HGNC:10857 HGNC:30966 SIAH1P1 siah E3 ubiquitin protein ligase 1 pseudogene 1 pseudogene pseudogene Approved Xp21.1 Xp21.1 SIAH1L "seven in absentia homolog 1-like (Drosophila)|seven in absentia homolog 1 (Drosophila)-like|seven in absentia homolog 1 (Drosophila) pseudogene 1" 2008-10-31 2010-12-20 2012-02-23 2020-04-02 340571 ENSG00000230227 OTTHUMG00000021347 NG_011405 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SIAH1L PGOHUM00000241698 HGNC:30966 HGNC:10858 SIAH2 siah E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "seven in absentia (Drosophila) homolog 2|seven in absentia homolog 2 (Drosophila)" Ring finger proteins 58 1997-09-12 2012-02-23 2023-01-20 6478 ENSG00000181788 OTTHUMG00000159847 uc003eyi.4 U76248 NM_005067 CCDS3152 O43255 9334332 MGI:108062 RGD:620778 602213 6.3.2.1 HGNC:10858 "ENST00000312960.4|NM_005067.7" HGNC:40526 SIAH2-AS1 SIAH2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 SIAH2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 105374155 ENSG00000244265 OTTHUMG00000159851 uc062pbb.1 XR_007096129 SIAH2-AS1 HGNC:30553 SIAH3 siah E3 ubiquitin protein ligase family member 3 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 FLJ39203 seven in absentia homolog 3 (Drosophila) 2008-12-05 2012-02-23 2023-01-20 283514 ENSG00000215475 OTTHUMG00000016862 uc001vap.4 NM_198849 CCDS41883 Q8IW03 28784114 MGI:2685758 RGD:1592168 615609 HGNC:30553 "ENST00000400405.4|NM_198849.3" -HGNC:25967 SIDT1 SID1 transmembrane family member 1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "FLJ20174|SID-1" SID1 transmembrane family, member 1 MicroRNA protein coding host genes 1691 2004-08-20 2015-11-18 2023-01-20 54847 ENSG00000072858 OTTHUMG00000159299 uc003eak.4 AK000181 NM_017699 "CCDS77790|CCDS2974" Q9NXL6 MGI:2443155 RGD:1559616 606816 HGNC:25967 "ENST00000264852.9|NM_017699.3" -HGNC:41126 SIDT1-AS1 SIDT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 SIDT1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874030 ENSG00000239453 OTTHUMG00000150326 uc062mob.1 SIDT1-AS1 +HGNC:25967 SIDT1 SID1 transmembrane family member 1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "FLJ20174|SID-1" SID1 transmembrane family, member 1 MicroRNA protein coding host genes 1691 2004-08-20 2015-11-18 2023-01-20 54847 ENSG00000072858 OTTHUMG00000159299 uc003eak.4 AK000181 NM_017699 "CCDS2974|CCDS77790" Q9NXL6 MGI:2443155 RGD:1559616 606816 HGNC:25967 "ENST00000264852.9|NM_017699.3" +HGNC:41126 SIDT1-AS1 SIDT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 SIDT1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874030 ENSG00000239453 OTTHUMG00000150326 uc062mob.1 NR_046729 SIDT1-AS1 HGNC:24272 SIDT2 SID1 transmembrane family member 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 CGI-40 SID1 transmembrane family, member 2 2004-08-20 2015-11-18 2023-01-20 51092 ENSG00000149577 OTTHUMG00000167065 uc001pqh.2 AF151799 NM_001040455 CCDS31682 Q8NBJ9 "10810093|12975309" MGI:2446134 RGD:1308311 617551 HGNC:24272 "ENST00000324225.9|NM_001040455.2" HGNC:30575 SIGIRR single Ig and TIR domain containing protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "TIR8|IL-1R8" single immunoglobulin domain IL1R1 related single immunoglobulin and toll-interleukin 1 receptor (TIR) domain "Immunoglobulin like domain containing|TIR domain containing" "594|1296" 2005-10-10 2016-06-17 2023-01-20 59307 ENSG00000185187 OTTHUMG00000165412 uc001lpe.1 NM_021805 CCDS31325 Q6IA17 10346978 MGI:1344402 RGD:1306732 605478 objectId:2969 HGNC:30575 "ENST00000431843.7|NM_001135054.2" HGNC:11127 SIGLEC1 sialic acid binding Ig like lectin 1 protein-coding gene gene with protein product Approved 20p13 20p13 "SIGLEC-1|CD169|FLJ00051|FLJ00055|FLJ00073|FLJ32150|dJ1009E24.1|sialoadhesin" SN "sialoadhesin|sialic acid binding Ig-like lectin 1, sialoadhesin" "CD molecules|V-set domain containing|C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "471|590|592|593|745" 1995-03-15 2006-01-19 2016-01-20 2023-01-20 6614 ENSG00000088827 OTTHUMG00000031757 uc002wja.3 AF230073 NM_023068 CCDS13060 Q9BZZ2 8530048 MGI:1921304 RGD:1311953 600751 CD169 HGNC:11127 "ENST00000344754.6|NM_023068.4" HGNC:10874 SIGLEC5 sialic acid binding Ig like lectin 5 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "OB-BP2|SIGLEC-5|CD170" CD33L2 sialic acid binding Ig-like lectin 5 "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 1998-12-16 2016-01-20 2023-01-20 8778 ENSG00000105501 OTTHUMG00000165510 uc061byd.1 U71383 NM_003830 CCDS33088 O15389 10343116 MGI:2681107 604200 471060 CD170 HGNC:10874 "ENST00000683636.1|NM_003830.4" -HGNC:10875 SIGLEC6 sialic acid binding Ig like lectin 6 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "OB-BP1|SIGLEC-6|CD327" "CD33L|CD33L1" sialic acid binding Ig-like lectin 6 "CD molecules|V-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "471|590|593|745" 1996-12-17 2016-01-20 2023-01-20 946 ENSG00000105492 OTTHUMG00000133571 uc002pwy.4 D86358 NM_001245 "CCDS12835|CCDS54308|CCDS12836|CCDS59417|CCDS12834|CCDS54307" O43699 9465907 MGI:99440 RGD:1305432 604405 CDw327 HGNC:10875 "ENST00000425629.8|NM_001245.7" -HGNC:10876 SIGLEC7 sialic acid binding Ig like lectin 7 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SIGLEC-7|p75/AIRM1|QA79|CD328" "SIGLEC19P|SIGLECP2" "sialic acid binding Ig-like lectin 19, pseudogene|sialic acid binding Ig-like lectin, pseudogene 2|sialic acid binding Ig-like lectin 7" "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 2000-01-26 2016-01-20 2023-01-20 27036 ENSG00000168995 OTTHUMG00000182895 uc002pvv.1 AF170485 NM_016543 "CCDS42601|CCDS12826|CCDS62771" Q9Y286 10567377 MGI:1932475 604410 CDw328 HGNC:10876 "ENST00000317643.10|NM_014385.4" -HGNC:10877 SIGLEC8 sialic acid binding Ig like lectin 8 protein-coding gene gene with protein product Approved 19q13.33-q13.41 19q13.33-q13.41 "SIGLEC-8|SAF2|SIGLEC8L|MGC59785" sialic acid binding Ig-like lectin 8 "V-set domain containing|Sialic acid binding Ig like lectins" "590|745" 2000-01-26 2016-01-20 2023-01-20 27181 ENSG00000105366 OTTHUMG00000182776 uc002pwt.3 AF195092 NM_014442 "CCDS33086|CCDS86797" Q9NYZ4 10625619 "MGI:1932475|MGI:2681107" RGD:1563073 605639 objectId:3012 HGNC:10877 "ENST00000321424.7|NM_014442.3" -HGNC:10878 SIGLEC9 sialic acid binding Ig like lectin 9 protein-coding gene gene with protein product Approved 19q13.3-q13.4 19q13.3-q13.4 CD329 sialic acid binding Ig-like lectin 9 "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 2000-03-29 2016-01-20 2023-01-20 27180 ENSG00000129450 OTTHUMG00000182894 uc002pvu.4 AF135027 NM_014441 "CCDS56100|CCDS12825" Q9Y336 10903842 MGI:1932475 605640 CDw329 HGNC:10878 "ENST00000250360.8|NM_014441.3" -HGNC:15620 SIGLEC10 sialic acid binding Ig like lectin 10 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SIGLEC-10|SLG2|PRO940|MGC126774" "sialic acid binding Ig-like lectin 10 Ig-like lectin 7|siglec-like gene 2" sialic acid binding Ig-like lectin 10 "V-set domain containing|C2-set domain containing|Sialic acid binding Ig like lectins" "590|592|745" 2001-06-29 2016-01-20 2023-03-15 89790 ENSG00000142512 OTTHUMG00000165521 uc002pwo.4 AF310233 NM_033130 "CCDS54305|CCDS54302|CCDS82384|CCDS54301|CCDS12832|CCDS54303|CCDS54304" Q96LC7 11284738 MGI:2443630 RGD:1307441 606091 objectId:3169 HGNC:15620 "ENST00000339313.10|NM_033130.5" +HGNC:10875 SIGLEC6 sialic acid binding Ig like lectin 6 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "OB-BP1|SIGLEC-6|CD327" "CD33L|CD33L1" sialic acid binding Ig-like lectin 6 "CD molecules|V-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "471|590|593|745" 1996-12-17 2016-01-20 2023-01-20 946 ENSG00000105492 OTTHUMG00000133571 uc002pwy.4 D86358 NM_001245 "CCDS54307|CCDS59417|CCDS12834|CCDS54308|CCDS12836|CCDS12835" O43699 9465907 MGI:99440 RGD:1305432 604405 CDw327 HGNC:10875 "ENST00000425629.8|NM_001245.7" +HGNC:10876 SIGLEC7 sialic acid binding Ig like lectin 7 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SIGLEC-7|p75/AIRM1|QA79|CD328" "SIGLEC19P|SIGLECP2" "sialic acid binding Ig-like lectin 19, pseudogene|sialic acid binding Ig-like lectin, pseudogene 2|sialic acid binding Ig-like lectin 7" "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 2000-01-26 2016-01-20 2023-01-20 27036 ENSG00000168995 OTTHUMG00000182895 uc002pvv.1 AF170485 NM_016543 "CCDS12826|CCDS42601|CCDS62771" Q9Y286 10567377 MGI:1932475 604410 CDw328 HGNC:10876 "ENST00000317643.10|NM_014385.4" +HGNC:10877 SIGLEC8 sialic acid binding Ig like lectin 8 protein-coding gene gene with protein product Approved 19q13.33-q13.41 19q13.33-q13.41 "SIGLEC-8|SAF2|SIGLEC8L|MGC59785" sialic acid binding Ig-like lectin 8 "V-set domain containing|Sialic acid binding Ig like lectins" "590|745" 2000-01-26 2016-01-20 2023-01-20 27181 ENSG00000105366 OTTHUMG00000182776 uc002pwt.3 AF195092 NM_014442 "CCDS86797|CCDS33086" Q9NYZ4 10625619 "MGI:1932475|MGI:2681107" RGD:1563073 605639 objectId:3012 HGNC:10877 "ENST00000321424.7|NM_014442.3" +HGNC:10878 SIGLEC9 sialic acid binding Ig like lectin 9 protein-coding gene gene with protein product Approved 19q13.3-q13.4 19q13.3-q13.4 CD329 sialic acid binding Ig-like lectin 9 "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 2000-03-29 2016-01-20 2023-01-20 27180 ENSG00000129450 OTTHUMG00000182894 uc002pvu.4 AF135027 NM_014441 "CCDS12825|CCDS56100" Q9Y336 10903842 MGI:1932475 605640 CDw329 HGNC:10878 "ENST00000250360.8|NM_014441.3" +HGNC:15620 SIGLEC10 sialic acid binding Ig like lectin 10 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SIGLEC-10|SLG2|PRO940|MGC126774" "sialic acid binding Ig-like lectin 10 Ig-like lectin 7|siglec-like gene 2" sialic acid binding Ig-like lectin 10 "V-set domain containing|C2-set domain containing|Sialic acid binding Ig like lectins" "590|592|745" 2001-06-29 2016-01-20 2023-03-15 89790 ENSG00000142512 OTTHUMG00000165521 uc002pwo.4 AF310233 NM_033130 "CCDS12832|CCDS54304|CCDS54303|CCDS82384|CCDS54301|CCDS54302|CCDS54305" Q96LC7 11284738 MGI:2443630 RGD:1307441 606091 objectId:3169 HGNC:15620 "ENST00000339313.10|NM_033130.5" HGNC:40719 SIGLEC10-AS1 SIGLEC10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2020-03-20 2020-03-20 100129083 ENSG00000255441 OTTHUMG00000165523 NR_164124 HGNC:40718 SIGLEC10-AS2 SIGLEC10 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 AC008750.1 Antisense RNAs 1987 2022-10-17 2022-10-17 127379722 ENSG00000254760 35964079 HGNC:15622 SIGLEC11 sialic acid binding Ig like lectin 11 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 sialic acid binding Ig-like lectin 11 "V-set domain containing|C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "590|592|593|745" 2001-08-28 2016-01-20 2023-01-20 114132 ENSG00000161640 OTTHUMG00000157077 uc010ybh.3 AF337818 NM_052884 "CCDS46150|CCDS12790" Q96RL6 11986327 MGI:2443630 607157 HGNC:15622 "ENST00000447370.6|NM_052884.3" -HGNC:15482 SIGLEC12 sialic acid binding Ig like lectin 12 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SLG|S2V|Siglec-XII|Siglec-12|Siglec-L1" SIGLECL1 "SIGLEC-like 1|sialic acid binding Ig-like lectin 12|sialic acid binding Ig-like lectin 12 (gene/pseudogene)|sialic acid binding Ig like lectin 12 (gene/pseudogene)" "V-set domain containing|C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "590|592|593|745" 2001-08-28 2004-10-20 2020-05-01 2023-01-20 89858 ENSG00000254521 OTTHUMG00000165524 uc002pwx.3 AF282256 NM_053003 "CCDS59416|CCDS12833" Q96PQ1 "11409877|11328818|21555517" MGI:1932475 606094 HGNC:15482 "ENST00000291707.8|NM_053003.4" +HGNC:15482 SIGLEC12 sialic acid binding Ig like lectin 12 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SLG|S2V|Siglec-XII|Siglec-12|Siglec-L1" SIGLECL1 "SIGLEC-like 1|sialic acid binding Ig-like lectin 12|sialic acid binding Ig-like lectin 12 (gene/pseudogene)|sialic acid binding Ig like lectin 12 (gene/pseudogene)" "V-set domain containing|C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "590|592|593|745" 2001-08-28 2004-10-20 2020-05-01 2023-01-20 89858 ENSG00000254521 OTTHUMG00000165524 uc002pwx.3 AF282256 NM_053003 "CCDS12833|CCDS59416" Q96PQ1 "11409877|11328818|21555517" MGI:1932475 606094 HGNC:15482 "ENST00000291707.8|NM_053003.4" HGNC:32926 SIGLEC14 sialic acid binding Ig like lectin 14 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 sialic acid binding Ig-like lectin 14 "V-set domain containing|Sialic acid binding Ig like lectins" "590|745" 2007-05-31 2016-01-20 2023-01-20 100049587 ENSG00000254415 OTTHUMG00000165511 uc002pxf.5 AY854038 NM_001098612 CCDS42604 Q08ET2 17012248 MGI:2681107 618132 HGNC:32926 "ENST00000360844.7|NM_001098612.3" HGNC:27596 SIGLEC15 sialic acid binding Ig like lectin 15 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 HsT1361 CD33L3 "CD33 antigen-like 3|CD33 molecule-like 3|sialic acid binding Ig-like lectin 15" "V-set domain containing|Sialic acid binding Ig like lectins" "590|745" 2004-01-16 2007-05-31 2016-01-20 2023-01-20 284266 ENSG00000197046 OTTHUMG00000170870 uc002lbl.2 AK095432 NM_213602 CCDS32819 Q6ZMC9 17483134 MGI:3646642 RGD:1565948 618105 HGNC:27596 "ENST00000389474.8|NM_213602.3" HGNC:24851 SIGLEC16 sialic acid binding Ig like lectin 16 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Siglec-P16 SIGLECP16 "sialic acid binding Ig-like lectin, pseudogene 16|sialic acid binding Ig-like lectin 16 (gene/pseudogene)|sialic acid binding Ig like lectin 16 (gene/pseudogene)" "V-set domain containing|C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "590|592|593|745" 2004-10-20 2008-08-04 2020-05-01 2021-10-06 400709 ENSG00000161643 OTTHUMG00000183074 BC030222 NM_001348364 A6NMB1 "11986327|18629938" MGI:2443630 PGOHUM00000263714 HGNC:24851 @@ -35291,47 +35294,47 @@ HGNC:15618 SIGLEC28P sialic acid binding Ig like lectin 28, pseudogene pseudogen HGNC:15619 SIGLEC29P sialic acid binding Ig like lectin 29, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP13 "sialic acid binding Ig-like lectin, pseudogene 13|sialic acid binding Ig-like lectin 29, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-07-26 114188 ENSG00000268267 OTTHUMG00000183514 NG_004732 11546777 PGOHUM00000295078 HGNC:15619 HGNC:15623 SIGLEC30P sialic acid binding Ig like lectin 30, pseudogene pseudogene pseudogene Approved 1q24.2 01q24.2 SIGLECP14 "sialic acid binding Ig-like lectin, pseudogene 14|sialic acid binding Ig-like lectin 30, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-01-20 114190 ENSG00000224896 OTTHUMG00000035957 AL162428 NG_004734 11546777 HGNC:15623 HGNC:16072 SIGLEC31P sialic acid binding Ig like lectin 31, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 SIGLECP15 "sialic acid binding Ig-like lectin, pseudogene 15|sialic acid binding Ig-like lectin 31, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-07-26 114189 ENSG00000268847 OTTHUMG00000182191 NG_004733 11546777 HGNC:16072 -HGNC:26856 SIGLECL1 SIGLEC family like 1 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ40235 "C19orf75|SIGLEC23P|SIGLECP7" "chromosome 19 open reading frame 75|sialic acid binding Ig-like lectin 23, pseudogene|sialic acid binding Ig-like lectin, pseudogene 7" Ig-like cell adhesion molecule family 1410 2009-07-20 2012-07-20 2012-07-20 2023-01-20 284369 ENSG00000179213 OTTHUMG00000182881 uc002pwb.2 AK097554 NM_173635 "CCDS77341|CCDS12827" Q8N7X8 MGI:1921304 RGD:2324488 HGNC:26856 "ENST00000601727.6|NM_001385465.1" -HGNC:8157 SIGMAR1 sigma non-opioid intracellular receptor 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 SR-BP1 OPRS1 opioid receptor, sigma 1 1993-03-11 2008-12-18 2008-12-18 2023-03-15 10280 ENSG00000147955 OTTHUMG00000019829 uc003zvb.5 BC004899 NM_005866 "CCDS94401|CCDS94402|CCDS94400|CCDS6563|CCDS94399|CCDS6562" Q99720 "8954936|9453537" MGI:1195268 RGD:68364 601978 291509 objectId:2552 HGNC:8157 "ENST00000277010.9|NM_005866.4" HGNC:8157 +HGNC:26856 SIGLECL1 SIGLEC family like 1 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ40235 "C19orf75|SIGLEC23P|SIGLECP7" "chromosome 19 open reading frame 75|sialic acid binding Ig-like lectin 23, pseudogene|sialic acid binding Ig-like lectin, pseudogene 7" Ig-like cell adhesion molecule family 1410 2009-07-20 2012-07-20 2012-07-20 2023-01-20 284369 ENSG00000179213 OTTHUMG00000182881 uc002pwb.2 AK097554 NM_173635 "CCDS12827|CCDS77341" Q8N7X8 MGI:1921304 RGD:2324488 HGNC:26856 "ENST00000601727.6|NM_001385465.1" +HGNC:8157 SIGMAR1 sigma non-opioid intracellular receptor 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 SR-BP1 OPRS1 opioid receptor, sigma 1 1993-03-11 2008-12-18 2008-12-18 2023-03-15 10280 ENSG00000147955 OTTHUMG00000019829 uc003zvb.5 BC004899 NM_005866 "CCDS94400|CCDS94399|CCDS94402|CCDS6563|CCDS6562|CCDS94401" Q99720 "8954936|9453537" MGI:1195268 RGD:68364 601978 291509 objectId:2552 HGNC:8157 "ENST00000277010.9|NM_005866.4" HGNC:8157 HGNC:11142 SIK1 salt inducible kinase 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 msk myocardial SNF1-like kinase SNF1LK SNF1-like kinase SIK family kinases 2131 2000-05-23 2008-12-23 2015-11-23 2023-01-20 150094 ENSG00000142178 OTTHUMG00000086874 uc002zdf.4 BC038504 NM_173354 CCDS33575 P57059 7893599 MGI:104754 RGD:69407 605705 426073 objectId:2197 HGNC:11142 "ENST00000270162.8|NM_173354.5" HGNC:11142 HGNC:21680 SIK2 salt inducible kinase 2 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "KIAA0781|QIK|DKFZp434K1115|LOH11CR1I" Qin-induced kinase SNF1LK2 SNF1-like kinase 2 SIK family kinases 2131 2005-01-21 2008-12-23 2015-11-23 2023-01-20 23235 ENSG00000170145 OTTHUMG00000150644 uc001plt.4 AB018324 NM_015191 CCDS8347 Q9H0K1 15067358 MGI:2445031 RGD:1559698 608973 objectId:2198 HGNC:21680 "ENST00000304987.4|NM_015191.3" -HGNC:29165 SIK3 SIK family kinase 3 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "FLJ12240|L19|KIAA0999|QSK" salt-inducible kinase 3 SIK family kinases 2131 2009-09-04 2023-01-20 23387 ENSG00000160584 OTTHUMG00000066628 uc001ppy.5 AB023216 NM_025164 "CCDS8379|CCDS60974|CCDS91600" Q9Y2K2 "10231032|8889548" MGI:2446296 RGD:1593938 614776 objectId:2199 HGNC:29165 "ENST00000445177.6|NM_001366686.3" -HGNC:26119 SIKE1 suppressor of IKBKE 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ21168|SIKE" suppressor of IKK epsilon STRIPAK complex 1371 2009-08-06 2023-01-20 80143 ENSG00000052723 OTTHUMG00000012061 uc001efo.5 AK024821 NM_025073 "CCDS878|CCDS41371" Q9BRV8 16281057 MGI:1913891 RGD:1311316 611656 HGNC:26119 "ENST00000060969.6|NM_025073.3" +HGNC:29165 SIK3 SIK family kinase 3 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "FLJ12240|L19|KIAA0999|QSK" salt-inducible kinase 3 SIK family kinases 2131 2009-09-04 2023-01-20 23387 ENSG00000160584 OTTHUMG00000066628 uc001ppy.5 AB023216 NM_025164 "CCDS91600|CCDS8379|CCDS60974" Q9Y2K2 "10231032|8889548" MGI:2446296 RGD:1593938 614776 objectId:2199 HGNC:29165 "ENST00000445177.6|NM_001366686.3" +HGNC:26119 SIKE1 suppressor of IKBKE 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ21168|SIKE" suppressor of IKK epsilon STRIPAK complex 1371 2009-08-06 2023-01-20 80143 ENSG00000052723 OTTHUMG00000012061 uc001efo.5 AK024821 NM_025073 "CCDS41371|CCDS878" Q9BRV8 16281057 MGI:1913891 RGD:1311316 611656 HGNC:26119 "ENST00000060969.6|NM_025073.3" HGNC:24624 SIL1 SIL1 nucleotide exchange factor protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "BAP|ULG5" MSS "Marinesco-Sjogren syndrome|SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)" Armadillo like helical domain containing 1492 2005-09-01 2013-08-21 2023-01-20 64374 ENSG00000120725 OTTHUMG00000129226 uc003ldp.4 AK075177 NM_022464 CCDS4209 Q9H173 "11101517|12356756|16282977" MGI:1932040 RGD:735103 608005 118718 HGNC:24624 "ENST00000394817.7|NM_022464.5" HGNC:24624 HGNC:26403 SILC1 sciatic injury induced lincRNA upregulator of SOX11 non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 "FLJ30594|LOC150622" LINC01105 long intergenic non-protein coding RNA 1105 Long non-coding RNAs with non-systematic symbols 1992 2013-10-10 2018-11-14 2018-11-14 2023-03-15 150622 ENSG00000232044 OTTHUMG00000151462 NR_026832 "25392693|27824082|30401432" MGI:3643118 RGD:2318102 LINC01105 HGNC:26403 HGNC:10882 SIM1 SIM bHLH transcription factor 1 protein-coding gene gene with protein product Approved 6q16.3 06q16.3 bHLHe14 "single-minded (Drosophila) homolog 1|single-minded homolog 1 (Drosophila)|single-minded family bHLH transcription factor 1" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1997-07-22 2018-04-20 2023-01-20 6492 ENSG00000112246 OTTHUMG00000015275 uc063qgu.1 U70212 NM_005068 CCDS5045 P81133 "9199934|11448938" MGI:98306 RGD:1309949 603128 158398 HGNC:10882 "ENST00000369208.8|NM_005068.3" HGNC:10882 HGNC:40530 SIM1-AS1 SIM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q16.3 06q16.3 Antisense RNAs 1987 2020-03-26 2020-03-26 102724406 ENSG00000228082 OTTHUMG00000015276 XR_942815 HGNC:10883 SIM2 SIM bHLH transcription factor 2 protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "MGC119447|bHLHe15" transcription factor SIM2 SIM "single-minded (Drosophila) homolog 2|single-minded homolog 2 (Drosophila)|single-minded family bHLH transcription factor 2" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1995-10-02 2018-04-20 2023-01-20 6493 ENSG00000159263 OTTHUMG00000086637 uc002yvr.3 NM_009586 CCDS13646 Q14190 7485157 MGI:98307 RGD:1308016 600892 HGNC:10883 "ENST00000290399.11|NM_005069.6" HGNC:53554 SIMALR suppressor of inflammatory macrophage apoptosis lncRNA non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 LINC02528 long intergenic non-protein coding RNA 2528 Long non-coding RNAs with non-systematic symbols 1992 2017-05-26 2023-01-05 2023-01-05 2023-01-05 105378020 ENSG00000226004 NR_149097 36546321 HGNC:53554 -HGNC:24779 SIMC1 SUMO interacting motifs containing 1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "FLJ44216|OOMA1|PLEIAD" "oocyte maturation associated 1|platform element for inhibition of autolytic degradation" C5orf25 "chromosome 5 open reading frame 25|SUMO-interacting motifs containing 1" 2006-04-10 2012-11-14 2016-01-28 2023-01-20 375484 ENSG00000170085 OTTHUMG00000130663 uc003mdr.4 BC037298 NM_198567 "CCDS78088|CCDS4398|CCDS78090|CCDS78089" Q8NDZ2 "23086935|23707407|36373674" MGI:2442599 RGD:2319689 618102 HGNC:24779 "ENST00000429602.7|NM_001308195.2" +HGNC:24779 SIMC1 SUMO interacting motifs containing 1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "FLJ44216|OOMA1|PLEIAD" "oocyte maturation associated 1|platform element for inhibition of autolytic degradation" C5orf25 "chromosome 5 open reading frame 25|SUMO-interacting motifs containing 1" 2006-04-10 2012-11-14 2016-01-28 2023-01-20 375484 ENSG00000170085 OTTHUMG00000130663 uc003mdr.4 BC037298 NM_198567 "CCDS78089|CCDS78090|CCDS4398|CCDS78088" Q8NDZ2 "23086935|23707407|36373674" MGI:2442599 RGD:2319689 618102 HGNC:24779 "ENST00000429602.7|NM_001308195.2" HGNC:56818 SIMC1P1 SIMC1 pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 2023-05-03 2023-05-03 202181 ENSG00000246596 NR_026921 10565538 HGNC:19353 SIN3A SIN3 transcription regulator family member A protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "KIAA0700|DKFZP434K2235" "SIN3 homolog A, transcription regulator (yeast)|SIN3 transcription regulator homolog A (yeast)" "EMSY complex|SIN3 histone deacetylase complex subunits" "1243|1306" 2002-10-09 2013-08-21 2023-01-20 25942 ENSG00000169375 OTTHUMG00000142834 uc010uml.3 AK027559 NM_015477 CCDS10279 Q96ST3 "10773092|7601471" MGI:107157 RGD:1311598 607776 471062 HGNC:19353 "ENST00000394947.8|NM_001145358.2" HGNC:19353 -HGNC:19354 SIN3B SIN3 transcription regulator family member B protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA0700 "SIN3 homolog B, transcription regulator (yeast)|SIN3 transcription regulator homolog B (yeast)" "EMSY complex|SIN3 histone deacetylase complex subunits" "1243|1306" 2002-10-09 2013-08-21 2023-01-20 23309 ENSG00000127511 OTTHUMG00000182642 uc002nez.3 AB014600 NM_015260 "CCDS74308|CCDS77254|CCDS32946" O75182 9734811 MGI:107158 RGD:1587989 607777 HGNC:19354 "ENST00000248054.10|NM_001297595.2" HGNC:19354 +HGNC:19354 SIN3B SIN3 transcription regulator family member B protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA0700 "SIN3 homolog B, transcription regulator (yeast)|SIN3 transcription regulator homolog B (yeast)" "EMSY complex|SIN3 histone deacetylase complex subunits" "1243|1306" 2002-10-09 2013-08-21 2023-01-20 23309 ENSG00000127511 OTTHUMG00000182642 uc002nez.3 AB014600 NM_015260 "CCDS32946|CCDS74308|CCDS77254" O75182 9734811 MGI:107158 RGD:1587989 607777 HGNC:19354 "ENST00000248054.10|NM_001297595.2" HGNC:19354 HGNC:30702 SINHCAF SIN3-HDAC complex associated factor protein-coding gene gene with protein product Approved 12p11.21 12p11.21 TERA "C12orf14|FAM60A" "chromosome 12 open reading frame 14|family with sequence similarity 60, member A" 2004-01-20 2017-07-14 2017-07-14 2023-01-20 58516 ENSG00000139146 OTTHUMG00000168586 uc001rke.4 AF212220 NM_021238 CCDS8723 Q9NP50 "11042152|22984288|22865885" MGI:1929091 RGD:1595037 615027 HGNC:30702 "ENST00000337682.9|NM_001135812.2" HGNC:19052 SINHCAFP1 SINHCAF pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 HsT2323 FAM60BP "family with sequence similarity 60, member B pseudogene|family with sequence similarity 60 member B, pseudogene" 2005-06-30 2018-02-20 2018-02-20 2020-04-20 100421588 ENSG00000263829 OTTHUMG00000179430 NG_026282 PGOHUM00000234904 HGNC:19052 HGNC:31737 SINHCAFP2 SINHCAF pseudogene 2 pseudogene pseudogene Approved 18q21.32 18q21.32 FAM60CP "family with sequence similarity 60, member C pseudogene|family with sequence similarity 60 member C, pseudogene" 2005-04-07 2018-02-20 2018-02-20 2018-02-20 728115 ENSG00000267742 OTTHUMG00000179954 NG_027872 PGOHUM00000294672 HGNC:31737 HGNC:19896 SINHCAFP3 SINHCAF pseudogene 3 pseudogene pseudogene Approved 8p21.2 08p21.2 FAM60DP "family with sequence similarity 60, member D pseudogene|family with sequence similarity 60 member D, pseudogene" 2005-04-07 2018-02-20 2018-02-20 2020-04-20 646721 ENSG00000253488 OTTHUMG00000163866 NG_022381 PGOHUM00000249270 HGNC:19896 HGNC:10885 SIPA1 signal-induced proliferation-associated 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 SPA1 "PDZ domain containing|MicroRNA protein coding host genes" "1220|1691" 1997-12-23 2008-09-12 2023-01-20 6494 ENSG00000213445 OTTHUMG00000166541 uc058dmg.1 "AH006363|BC010492|BM677738" NM_006747 CCDS8108 Q96FS4 9027487 MGI:107576 RGD:1303184 602180 HGNC:10885 "ENST00000534313.6|NM_006747.4" -HGNC:20284 SIPA1L1 signal induced proliferation associated 1 like 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "KIAA0440|E6TP1|SPAR1" spine‐associated RapGAP 1 signal-induced proliferation-associated 1 like 1 PDZ domain containing 1220 2003-12-11 2016-04-05 2023-01-20 26037 ENSG00000197555 OTTHUMG00000171282 uc001xms.5 AB007900 NM_015556 "CCDS61491|CCDS9807|CCDS61490" O43166 "9858596|20576033" MGI:2443679 RGD:708497 617504 HGNC:20284 "ENST00000381232.8|NM_001386936.1" +HGNC:20284 SIPA1L1 signal induced proliferation associated 1 like 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "KIAA0440|E6TP1|SPAR1" spine‐associated RapGAP 1 signal-induced proliferation-associated 1 like 1 PDZ domain containing 1220 2003-12-11 2016-04-05 2023-01-20 26037 ENSG00000197555 OTTHUMG00000171282 uc001xms.5 AB007900 NM_015556 "CCDS61491|CCDS61490|CCDS9807" O43166 "9858596|20576033" MGI:2443679 RGD:708497 617504 HGNC:20284 "ENST00000381232.8|NM_001386936.1" HGNC:55432 SIPA1L1-AS1 SIPA1L1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 Antisense RNAs 1987 2021-01-08 2021-01-08 102724015 ENSG00000259146 NR_184173 -HGNC:23800 SIPA1L2 signal induced proliferation associated 1 like 2 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "KIAA1389|SPAR2" spine‐associated RapGAP 2 signal-induced proliferation-associated 1 like 2 PDZ domain containing 1220 2003-12-11 2016-04-05 2023-01-20 57568 ENSG00000116991 OTTHUMG00000037820 uc001hvg.4 AB037810 NM_020808 "CCDS91174|CCDS41474" Q9P2F8 "29463568|20576033" MGI:2676970 RGD:1306269 611609 HGNC:23800 "ENST00000674635.1|NM_020808.5" +HGNC:23800 SIPA1L2 signal induced proliferation associated 1 like 2 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "KIAA1389|SPAR2" spine‐associated RapGAP 2 signal-induced proliferation-associated 1 like 2 PDZ domain containing 1220 2003-12-11 2016-04-05 2023-01-20 57568 ENSG00000116991 OTTHUMG00000037820 uc001hvg.4 AB037810 NM_020808 "CCDS41474|CCDS91174" Q9P2F8 "29463568|20576033" MGI:2676970 RGD:1306269 611609 HGNC:23800 "ENST00000674635.1|NM_020808.5" HGNC:23801 SIPA1L3 signal induced proliferation associated 1 like 3 protein-coding gene gene with protein product Approved 19q13.13-q13.2 19q13.13-q13.2 "KIAA0545|SPAR3" spine‐associated RapGAP 3 signal-induced proliferation-associated 1 like 3 PDZ domain containing 1220 2003-12-11 2016-04-05 2023-01-20 23094 ENSG00000105738 OTTHUMG00000073727 uc002ohk.4 AB011117 NM_015073 CCDS33007 O60292 20576033 MGI:1921456 RGD:1311432 616655 458270 HGNC:23801 "ENST00000222345.11|NM_015073.3" HGNC:23801 HGNC:53902 SIRLNT SIRT1 regulating lncRNA tumor promoter non-coding RNA RNA, long non-coding Approved 8p11.21 08p11.21 lncRNA-PRLB progression-associated lncRNA in breast cancer Long non-coding RNAs with non-systematic symbols 1992 2018-05-23 2018-05-23 112543493 ENSG00000253802 NR_156738 29752439 HGNC:53902 HGNC:9662 SIRPA signal regulatory protein alpha protein-coding gene gene with protein product Approved 20p13 20p13 "SHPS1|SIRP|MYD-1|BIT|P84|SHPS-1|SIRPalpha|CD172a|SIRPalpha2|MFR|SIRP-ALPHA-1" PTPNS1 "protein tyrosine phosphatase, non-receptor type substrate 1|signal-regulatory protein alpha" "CD molecules|V-set domain containing|C1-set domain containing|Signal regulatory proteins|Ig-like cell adhesion molecule family" "471|590|591|747|1410" 1999-03-19 2006-03-29 2016-01-20 2023-01-20 140885 ENSG00000198053 OTTHUMG00000031682 uc002wfq.3 D86043 NM_080792 "CCDS82593|CCDS13022" P78324 "9070220|9062191|16339511" MGI:108563 RGD:3449 602461 objectId:2942 CD172a HGNC:9662 "ENST00000358771.5|NM_001040023.2" HGNC:9663 SIRPAP1 signal regulatory protein alpha pseudogene 1 pseudogene pseudogene Approved 22q12.2 22q12.2 SIRPA2P PTPNS1L "protein tyrosine phosphatase, non-receptor type substrate 1-like|signal-regulatory protein alpha pseudogene 1" 1999-10-29 2010-10-25 2016-01-20 2016-01-20 23755 ENSG00000225774 OTTHUMG00000151257 NG_002457 "10591208|16339510" PGOHUM00000246563 HGNC:9663 -HGNC:15928 SIRPB1 signal regulatory protein beta 1 protein-coding gene gene with protein product Approved 20p13 20p13 "SIRP-BETA-1|CD172b" signal-regulatory protein beta 1 "CD molecules|V-set domain containing|C1-set domain containing|Signal regulatory proteins" "471|590|591|747" 2001-06-21 2016-01-20 2023-01-20 10326 ENSG00000101307 OTTHUMG00000031676 uc010gai.4 Y10376 NM_006065 "CCDS13019|CCDS82591|CCDS46571|CCDS42850" "O00241|Q5TFQ8" "9062191|16339511" "MGI:2444824|MGI:3779828|MGI:3807521" 603889 CD172b HGNC:15928 "ENST00000381605.9|NM_006065.5" -HGNC:16247 SIRPB2 signal regulatory protein beta 2 protein-coding gene gene with protein product Approved 20p13 20p13 dJ776F14.2 "PTPN1L|PTPNS1L3" "protein tyrosine phosphatase, non-receptor type 1-like|protein tyrosine phosphatase, non-receptor type substrate 1-like 3|signal-regulatory protein beta 2" "V-set domain containing|Signal regulatory proteins" "590|747" 2001-07-17 2006-02-03 2016-01-20 2023-01-20 284759 ENSG00000196209 OTTHUMG00000031670 uc002wfg.3 AL109658 NM_178459 "CCDS42849|CCDS46570" Q5JXA9 "16339511|16691243" HGNC:16247 "ENST00000359801.8|NM_001122962.2" +HGNC:15928 SIRPB1 signal regulatory protein beta 1 protein-coding gene gene with protein product Approved 20p13 20p13 "SIRP-BETA-1|CD172b" signal-regulatory protein beta 1 "CD molecules|V-set domain containing|C1-set domain containing|Signal regulatory proteins" "471|590|591|747" 2001-06-21 2016-01-20 2023-01-20 10326 ENSG00000101307 OTTHUMG00000031676 uc010gai.4 Y10376 NM_006065 "CCDS13019|CCDS42850|CCDS82591|CCDS46571" "O00241|Q5TFQ8" "9062191|16339511" "MGI:2444824|MGI:3779828|MGI:3807521" 603889 CD172b HGNC:15928 "ENST00000381605.9|NM_006065.5" +HGNC:16247 SIRPB2 signal regulatory protein beta 2 protein-coding gene gene with protein product Approved 20p13 20p13 dJ776F14.2 "PTPN1L|PTPNS1L3" "protein tyrosine phosphatase, non-receptor type 1-like|protein tyrosine phosphatase, non-receptor type substrate 1-like 3|signal-regulatory protein beta 2" "V-set domain containing|Signal regulatory proteins" "590|747" 2001-07-17 2006-02-03 2016-01-20 2023-01-20 284759 ENSG00000196209 OTTHUMG00000031670 uc002wfg.3 AL109658 NM_178459 "CCDS46570|CCDS42849" Q5JXA9 "16339511|16691243" HGNC:16247 "ENST00000359801.8|NM_001122962.2" HGNC:49209 SIRPB3P signal regulatory protein beta 3, pseudogene pseudogene pseudogene Approved 20p13 20p13 signal-regulatory protein beta 3, pseudogene Signal regulatory proteins 747 2013-10-08 2016-01-20 2020-04-20 105369219 ENSG00000223750 OTTHUMG00000031678 NR_164369 "16339510|16339511" RGD:1566226 HGNC:49209 -HGNC:16248 SIRPD signal regulatory protein delta protein-coding gene gene with protein product Approved 20p13 20p13 dJ576H24.4 PTPNS1L2 "protein tyrosine phosphatase, non-receptor type substrate 1-like 2|signal-regulatory protein delta" "V-set domain containing|Signal regulatory proteins" "590|747" 2001-07-17 2006-02-03 2016-01-20 2023-01-20 128646 ENSG00000125900 OTTHUMG00000031674 uc002wfi.4 AL049634 NM_178460 "CCDS13018|CCDS93001" Q9H106 16339511 MGI:3780136 HGNC:16248 "ENST00000381623.4|NM_178460.3" -HGNC:15757 SIRPG signal regulatory protein gamma protein-coding gene gene with protein product Approved 20p13 20p13 "bA77C3.1|SIRP-B2|SIRPgamma|CD172g" SIRPB2 "signal-regulatory protein beta 2|signal-regulatory protein gamma" "CD molecules|V-set domain containing|C1-set domain containing|Signal regulatory proteins|Ig-like cell adhesion molecule family" "471|590|591|747|1410" 2001-09-17 2006-02-03 2016-01-20 2023-01-20 55423 ENSG00000089012 OTTHUMG00000031680 uc002wfm.1 AB042624 NM_018556 "CCDS13021|CCDS33434|CCDS13020" Q9P1W8 "11185750|16339511" "MGI:2444824|MGI:3779828|MGI:3807521" 605466 CD172g HGNC:15757 "ENST00000303415.7|NM_018556.4" HGNC:15757 +HGNC:16248 SIRPD signal regulatory protein delta protein-coding gene gene with protein product Approved 20p13 20p13 dJ576H24.4 PTPNS1L2 "protein tyrosine phosphatase, non-receptor type substrate 1-like 2|signal-regulatory protein delta" "V-set domain containing|Signal regulatory proteins" "590|747" 2001-07-17 2006-02-03 2016-01-20 2023-01-20 128646 ENSG00000125900 OTTHUMG00000031674 uc002wfi.4 AL049634 NM_178460 "CCDS93001|CCDS13018" Q9H106 16339511 MGI:3780136 HGNC:16248 "ENST00000381623.4|NM_178460.3" +HGNC:15757 SIRPG signal regulatory protein gamma protein-coding gene gene with protein product Approved 20p13 20p13 "bA77C3.1|SIRP-B2|SIRPgamma|CD172g" SIRPB2 "signal-regulatory protein beta 2|signal-regulatory protein gamma" "CD molecules|V-set domain containing|C1-set domain containing|Signal regulatory proteins|Ig-like cell adhesion molecule family" "471|590|591|747|1410" 2001-09-17 2006-02-03 2016-01-20 2023-01-20 55423 ENSG00000089012 OTTHUMG00000031680 uc002wfm.1 AB042624 NM_018556 "CCDS13021|CCDS13020|CCDS33434" Q9P1W8 "11185750|16339511" "MGI:2444824|MGI:3779828|MGI:3807521" 605466 CD172g HGNC:15757 "ENST00000303415.7|NM_018556.4" HGNC:15757 HGNC:51229 SIRPG-AS1 SIRPG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 Antisense RNAs 1987 2014-08-08 2014-08-08 101929010 ENSG00000237914 OTTHUMG00000031675 AK093519 NR_110090 SIRPG-AS1 HGNC:51229 -HGNC:14929 SIRT1 sirtuin 1 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 SIR2L1 "sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1|sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)" "Sirtuins|eNoSC complex" "938|1477" 2001-03-20 2010-06-25 2023-01-20 23411 ENSG00000096717 OTTHUMG00000018340 uc001jnd.3 AF083106 NM_012238 "CCDS81469|CCDS7273|CCDS44412" Q96EB6 10381378 MGI:2135607 RGD:1308542 604479 471064 objectId:2707 HGNC:14929 "ENST00000212015.11|NM_012238.5" +HGNC:14929 SIRT1 sirtuin 1 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 SIR2L1 "sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1|sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)" "Sirtuins|eNoSC complex" "938|1477" 2001-03-20 2010-06-25 2023-01-20 23411 ENSG00000096717 OTTHUMG00000018340 uc001jnd.3 AF083106 NM_012238 "CCDS44412|CCDS81469|CCDS7273" Q96EB6 10381378 MGI:2135607 RGD:1308542 604479 471064 objectId:2707 HGNC:14929 "ENST00000212015.11|NM_012238.5" HGNC:51912 SIRT1-AS SIRT1 antisense RNA non-coding RNA RNA, long non-coding Approved 10q21.3 10q21.3 Antisense RNAs 1987 2015-09-23 2017-01-27 106633813 26324025 -HGNC:10886 SIRT2 sirtuin 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 SIR2L "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2|sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)" Sirtuins 938 1998-10-14 2010-06-25 2023-01-20 22933 ENSG00000068903 OTTHUMG00000150480 uc002ojt.3 AF083107 NM_001193286 "CCDS46069|CCDS74361|CCDS12523" Q8IXJ6 "10393250|10381378" MGI:1927664 RGD:621481 604480 objectId:2708 HGNC:10886 "ENST00000249396.12|NM_012237.4" -HGNC:14931 SIRT3 sirtuin 3 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 SIR2L3 "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3|sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2023-01-20 23410 ENSG00000142082 OTTHUMG00000119074 uc001lok.5 AF083108 NM_001017524 "CCDS91394|CCDS7691|CCDS91393|CCDS53590|CCDS91392" Q9NTG7 "10381378|18215119" MGI:1927665 RGD:1308374 604481 objectId:2709 HGNC:14931 "ENST00000382743.9|NM_012239.6" +HGNC:10886 SIRT2 sirtuin 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 SIR2L "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2|sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)" Sirtuins 938 1998-10-14 2010-06-25 2023-01-20 22933 ENSG00000068903 OTTHUMG00000150480 uc002ojt.3 AF083107 NM_001193286 "CCDS12523|CCDS46069|CCDS74361" Q8IXJ6 "10393250|10381378" MGI:1927664 RGD:621481 604480 objectId:2708 HGNC:10886 "ENST00000249396.12|NM_012237.4" +HGNC:14931 SIRT3 sirtuin 3 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 SIR2L3 "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3|sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2023-01-20 23410 ENSG00000142082 OTTHUMG00000119074 uc001lok.5 AF083108 NM_001017524 "CCDS91394|CCDS7691|CCDS91392|CCDS91393|CCDS53590" Q9NTG7 "10381378|18215119" MGI:1927665 RGD:1308374 604481 objectId:2709 HGNC:14931 "ENST00000382743.9|NM_012239.6" HGNC:14932 SIRT4 sirtuin 4 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 SIR2L4 "sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4|sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2023-01-20 23409 ENSG00000089163 OTTHUMG00000169028 uc001tyc.4 AF083109 NM_012240 CCDS9194 Q9Y6E7 10381378 MGI:1922637 RGD:1310413 604482 objectId:2710 HGNC:14932 "ENST00000202967.4|NM_012240.3" -HGNC:14933 SIRT5 sirtuin 5 protein-coding gene gene with protein product Approved 6p23 06p23 "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5|sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2023-03-15 23408 ENSG00000124523 OTTHUMG00000014278 uc003nay.4 AF083110 NM_001193267 "CCDS54966|CCDS93862|CCDS93861|CCDS4526|CCDS4527" Q9NXA8 10381378 MGI:1915596 RGD:1303285 604483 objectId:2711 HGNC:14933 "ENST00000606117.2|NM_012241.5" -HGNC:14934 SIRT6 sirtuin 6 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6|sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2023-01-20 51548 ENSG00000077463 OTTHUMG00000181847 uc002lzo.4 AF233396 NM_001193285 "CCDS54199|CCDS82275|CCDS82276|CCDS12122" Q8N6T7 10873683 MGI:1354161 RGD:1305216 606211 objectId:2712 HGNC:14934 "ENST00000337491.7|NM_016539.4" +HGNC:14933 SIRT5 sirtuin 5 protein-coding gene gene with protein product Approved 6p23 06p23 "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5|sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2023-03-15 23408 ENSG00000124523 OTTHUMG00000014278 uc003nay.4 AF083110 NM_001193267 "CCDS93862|CCDS4526|CCDS4527|CCDS93861|CCDS54966" Q9NXA8 10381378 MGI:1915596 RGD:1303285 604483 objectId:2711 HGNC:14933 "ENST00000606117.2|NM_012241.5" +HGNC:14934 SIRT6 sirtuin 6 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6|sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2023-01-20 51548 ENSG00000077463 OTTHUMG00000181847 uc002lzo.4 AF233396 NM_001193285 "CCDS82275|CCDS54199|CCDS82276|CCDS12122" Q8N6T7 10873683 MGI:1354161 RGD:1305216 606211 objectId:2712 HGNC:14934 "ENST00000337491.7|NM_016539.4" HGNC:14935 SIRT7 sirtuin 7 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7|sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2023-01-20 51547 ENSG00000187531 OTTHUMG00000177957 uc002kcj.3 AF233395 NM_016538 CCDS11792 Q9NRC8 "10873683|16618798" MGI:2385849 RGD:1305876 606212 objectId:2713 HGNC:14935 "ENST00000328666.11|NM_016538.3" HGNC:17710 SIT1 signaling threshold regulating transmembrane adaptor 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 SIT SHP2 interacting transmembrane adaptor suppression inducing transmembrane adaptor 1 2005-04-25 2005-04-26 2023-01-20 27240 ENSG00000137078 OTTHUMG00000019867 uc003zxe.3 NM_014450 CCDS6582 Q9Y3P8 "11491537|10209036" MGI:1889342 RGD:1559919 604964 HGNC:17710 "ENST00000259608.8|NM_014450.3" HGNC:17712 SIVA1 SIVA1 apoptosis inducing factor protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "SIVA|Siva-1|Siva-2|CD27BP" 2006-12-05 2016-02-09 2023-01-20 10572 ENSG00000184990 OTTHUMG00000170819 uc001yph.4 U82938 NM_006427 "CCDS9992|CCDS9993" O15304 9177220 MGI:1353606 RGD:1561872 605567 HGNC:17712 "ENST00000329967.11|NM_006427.4" @@ -35343,9 +35346,9 @@ HGNC:10890 SIX4 SIX homeobox 4 protein-coding gene gene with protein product App HGNC:10891 SIX5 SIX homeobox 5 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 DMAHP "sine oculis homeobox (Drosophila) homolog 5|sine oculis homeobox homolog 5 (Drosophila)" SINE class homeoboxes 525 1997-05-29 2007-07-13 2023-01-20 147912 ENSG00000177045 OTTHUMG00000172208 uc002pdb.4 L08835 NM_175875 CCDS12673 Q8N196 8595416 MGI:106220 RGD:1305040 600963 8515 138472 HGNC:10891 "ENST00000317578.7|NM_175875.5" HGNC:10891 HGNC:10892 SIX6 SIX homeobox 6 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 Six9 OPTX2 "sine oculis homeobox (Drosophila) homolog 6|sine oculis homeobox homolog 6 (Drosophila)" SINE class homeoboxes 525 1998-04-21 2007-07-13 2023-01-20 4990 ENSG00000184302 OTTHUMG00000152339 uc001xfa.5 AF141651 NM_007374 CCDS9747 O95475 10512683 MGI:1341840 RGD:1310497 606326 8516 118728 HGNC:10892 "ENST00000327720.6|NM_007374.3" HGNC:10892 HGNC:28109 SKA1 spindle and kinetochore associated complex subunit 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 MGC10200 C18orf24 chromosome 18 open reading frame 24 2004-05-19 2009-08-19 2009-08-19 2023-01-20 220134 ENSG00000154839 OTTHUMG00000132685 uc002let.4 BC015706 NM_145060 CCDS11946 Q96BD8 17093495 MGI:1913718 RGD:1310784 616673 HGNC:28109 "ENST00000285116.8|NM_145060.4" -HGNC:28006 SKA2 spindle and kinetochore associated complex subunit 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 FLJ12758 FAM33A family with sequence similarity 33, member A MicroRNA protein coding host genes 1691 2004-02-24 2009-08-19 2009-08-19 2023-01-20 348235 ENSG00000182628 OTTHUMG00000179361 uc002ixd.3 BC017873 NM_182620 "CCDS45748|CCDS82175|CCDS45747" Q8WVK7 "17093495|19289083|18583474" MGI:1913390 RGD:1307084 616674 HGNC:28006 "ENST00000330137.12|NM_182620.4" +HGNC:28006 SKA2 spindle and kinetochore associated complex subunit 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 FLJ12758 FAM33A family with sequence similarity 33, member A MicroRNA protein coding host genes 1691 2004-02-24 2009-08-19 2009-08-19 2023-01-20 348235 ENSG00000182628 OTTHUMG00000179361 uc002ixd.3 BC017873 NM_182620 "CCDS45748|CCDS45747|CCDS82175" Q8WVK7 "17093495|19289083|18583474" MGI:1913390 RGD:1307084 616674 HGNC:28006 "ENST00000330137.12|NM_182620.4" HGNC:23122 SKA2P1 spindle and kinetochore associated complex subunit 2 pseudogene 1 pseudogene pseudogene Approved 9q33.2 09q33.2 Em:AC006313.1 "FAM33B|SKA2L" "family with sequence similarity 33, member B|spindle and kinetochore associated complex subunit 2-like" 2004-06-02 2013-01-16 2013-01-16 2020-04-20 729012 ENSG00000232387 OTTHUMG00000020617 NG_027505 HGNC:23122 -HGNC:20262 SKA3 spindle and kinetochore associated complex subunit 3 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "MGC4832|RAMA1" C13orf3 chromosome 13 open reading frame 3 2003-01-16 2009-08-19 2009-08-19 2023-01-20 221150 ENSG00000165480 OTTHUMG00000016539 uc001unt.3 AF361358 NM_145061 "CCDS31946|CCDS53856" Q8IX90 "19387489|19289083|19646878|19360002" MGI:3041235 RGD:1307201 619247 HGNC:20262 "ENST00000314759.6|NM_145061.6" +HGNC:20262 SKA3 spindle and kinetochore associated complex subunit 3 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "MGC4832|RAMA1" C13orf3 chromosome 13 open reading frame 3 2003-01-16 2009-08-19 2009-08-19 2023-01-20 221150 ENSG00000165480 OTTHUMG00000016539 uc001unt.3 AF361358 NM_145061 "CCDS53856|CCDS31946" Q8IX90 "19387489|19289083|19646878|19360002" MGI:3041235 RGD:1307201 619247 HGNC:20262 "ENST00000314759.6|NM_145061.6" HGNC:15605 SKAP1 src kinase associated phosphoprotein 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 SKAP55 SCAP1 src family associated phosphoprotein 1 "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2001-06-21 2006-09-28 2006-09-28 2023-01-20 8631 ENSG00000141293 OTTHUMG00000178823 uc002ini.2 Y11215 NM_003726 CCDS32674 Q86WV1 9195899 MGI:1925723 RGD:708436 604969 HGNC:15605 "ENST00000336915.11|NM_003726.4" HGNC:53166 SKAP1-AS1 SKAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 RP11-456D7.1 Antisense RNAs 1987 2017-03-03 2017-03-03 110806289 ENSG00000263787 OTTHUMG00000178825 27663962 HGNC:55570 SKAP1-AS2 SKAP1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 BTR BT474 transcribed rearrangement Antisense RNAs 1987 2021-04-21 2021-04-21 105371807 ENSG00000235300 NR_131239 7511052 @@ -35355,39 +35358,39 @@ HGNC:10898 SKIC2 SKI2 subunit of superkiller complex protein-coding gene gene wi HGNC:23639 SKIC3 SKI3 subunit of superkiller complex protein-coding gene gene with protein product Approved 5q15 05q15 "THES|SKI3" "thespin|SKI complex component SKI3 (S. cerevisiae)" "KIAA0372|TTC37" "KIAA0372|tetratricopeptide repeat domain 37" "Tetratricopeptide repeat domain containing|SKI complex subunits" "769|2119" 2003-12-17 2022-06-09 2022-06-09 2023-01-20 9652 ENSG00000198677 OTTHUMG00000121165 uc003klb.4 AB002370 NM_014639 CCDS4072 Q6PGP7 "9205841|20176027" MGI:2679923 RGD:1306062 LRG_173|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_173.xml 614589 238544 HGNC:23639 "ENST00000358746.7|NM_014639.4" HGNC:23639 HGNC:30300 SKIC8 SKI8 subunit of superkiller complex protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "REC14|SKI8" "SKI complex component SKI8 (S. cerevisiae)|Ski complex subunit Rec14 (S. pombe)" WDR61 WD repeat domain 61 "WD repeat domain containing|Paf1/RNA polymerase II complex |SKI complex subunits" "362|1029|2119" 2005-04-26 2022-06-09 2022-06-09 2023-01-20 80349 ENSG00000140395 OTTHUMG00000143735 uc002bdn.4 NM_025234 "CCDS10300|CCDS76785" Q9GZS3 12477932 MGI:1917493 RGD:1308228 609540 HGNC:30300 "ENST00000267973.7|NM_025234.3" HGNC:32697 SKIDA1 SKI/DACH domain containing 1 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 FLJ45187 C10orf140 chromosome 10 open reading frame 140 2007-08-14 2012-06-13 2012-06-13 2023-01-20 387640 ENSG00000180592 OTTHUMG00000017797 uc009xkd.4 AK131456 NM_207371 CCDS44363 Q1XH10 MGI:1919918 RGD:1588196 HGNC:32697 "ENST00000449193.7|NM_207371.4" -HGNC:10897 SKIL SKI like proto-oncogene protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "SNO|SnoN|SnoA" SKI-like oncogene SKI transcriptional corepressors 748 1997-11-28 2016-08-09 2023-01-20 6498 ENSG00000136603 OTTHUMG00000158831 uc003fgw.4 X15217 NM_005414 "CCDS33890|CCDS46954|CCDS46953" P12757 2762147 MGI:106203 RGD:621399 165340 471066 HGNC:10897 "ENST00000259119.9|NM_005414.5" +HGNC:10897 SKIL SKI like proto-oncogene protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "SNO|SnoN|SnoA" SKI-like oncogene SKI transcriptional corepressors 748 1997-11-28 2016-08-09 2023-01-20 6498 ENSG00000136603 OTTHUMG00000158831 uc003fgw.4 X15217 NM_005414 "CCDS46954|CCDS46953|CCDS33890" P12757 2762147 MGI:106203 RGD:621399 165340 471066 HGNC:10897 "ENST00000259119.9|NM_005414.5" HGNC:33993 SKINT1L Skint1 like (pseudogene) pseudogene pseudogene Approved 1p33 01p33 BTN12 "SKINTP|SKINTL" Butyrophilins 458 2009-04-30 2016-01-06 2016-01-06 2016-01-06 391037 ENSG00000242267 OTTHUMG00000007955 NR_026749 "18408721|25830554" RGD:6490949 616392 HGNC:33993 HGNC:21326 SKOR1 SKI family transcriptional corepressor 1 protein-coding gene gene with protein product Approved 15q23 15q23 "CORL1|FUSSEL15" "transcriptional corepressor CORL1|functional smad suppressing element 15|corepressor for LBX1" LBXCOR1 Lbxcor1 homolog (mouse) SKI transcriptional corepressors 748 2005-05-08 2010-06-23 2010-06-23 2023-03-15 390598 ENSG00000188779 OTTHUMG00000170878 uc031qsn.2 NM_001031807 CCDS92030 P84550 15528197 MGI:2443473 RGD:1307687 611273 HGNC:21326 "ENST00000380035.3|NM_001365915.1" HGNC:56365 SKOR1-AS1 SKOR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 AC009292.1 Antisense RNAs 1987 2022-10-17 2022-10-17 101929076 ENSG00000245719 NR_120345 35964079 -HGNC:32695 SKOR2 SKI family transcriptional corepressor 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "CORL2|FUSSEL18|Fussel-18" functional smad suppressing element 18 SKI transcriptional corepressors 748 2010-06-23 2023-01-20 652991 ENSG00000215474 OTTHUMG00000180309 uc010dnt.2 AY669508 NM_001037802 "CCDS74222|CCDS62441" Q2VWA4 "16200078|18522874" MGI:3645984 RGD:1598071 617138 HGNC:32695 "ENST00000425639.3|NM_001278063.4" HGNC:32695 +HGNC:32695 SKOR2 SKI family transcriptional corepressor 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "CORL2|FUSSEL18|Fussel-18" functional smad suppressing element 18 SKI transcriptional corepressors 748 2010-06-23 2023-01-20 652991 ENSG00000215474 OTTHUMG00000180309 uc010dnt.2 AY669508 NM_001037802 "CCDS62441|CCDS74222" Q2VWA4 "16200078|18522874" MGI:3645984 RGD:1598071 617138 HGNC:32695 "ENST00000425639.3|NM_001278063.4" HGNC:32695 HGNC:10899 SKP1 S-phase kinase associated protein 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "EMC19|OCP2|TCEB1L|MGC34403|OCP-II|p19A" SKP1A S-phase kinase-associated protein 1A (p19A) SCF complex core subunits 2126 1995-12-18 2007-11-13 2016-09-09 2023-01-20 6500 ENSG00000113558 OTTHUMG00000129117 uc003kzc.5 U33760 NM_170679 "CCDS4171|CCDS4172" P63208 "7553852|8646875" MGI:103575 RGD:1359648 601434 HGNC:10899 "ENST00000353411.11|NM_170679.3" HGNC:33696 SKP1P1 S-phase kinase associated protein 1 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 EMC19 "OCP2|TCEB1L|TCEB1P" "transcription elongation factor B (SIII), polypeptide 1-like|transcription elongation factor B (SIII), polypeptide 1 pseudogene" 2007-11-13 2016-09-09 2020-04-20 6922 ENSG00000231234 OTTHUMG00000156598 NG_002399.3 PGOHUM00000232843 HGNC:33696 HGNC:10900 SKP1P2 S-phase kinase associated protein 1 pseudogene 2 pseudogene pseudogene Approved 12p12.3 12p12.3 p19B SKP1B S-phase kinase-associated protein 1B (p19B) 1995-12-18 2007-11-13 2016-09-09 2020-04-20 728622 ENSG00000256211 NR_036619 8646875 601435 HGNC:10900 HGNC:50370 SKP1P3 S-phase kinase associated protein 1 pseudogene 3 pseudogene pseudogene Approved 9p12 09p12 2014-04-24 2016-09-09 2016-09-09 100101119 ENSG00000229707 OTTHUMG00000013209 NG_006153 PGOHUM00000257226 HGNC:50370 -HGNC:10901 SKP2 S-phase kinase associated protein 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "FBXL1|FBL1|p45" "S-phase kinase-associated protein 2 (p45)|S-phase kinase-associated protein 2, E3 ubiquitin protein ligase" F-box and leucine rich repeat proteins 558 1995-12-18 2016-09-09 2023-03-15 6502 ENSG00000145604 OTTHUMG00000131106 uc003jkc.3 U33761 NM_005983 "CCDS3916|CCDS3915" Q13309 8646875 MGI:1351663 RGD:1562456 601436 HGNC:10901 "ENST00000274255.11|NM_005983.4" +HGNC:10901 SKP2 S-phase kinase associated protein 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "FBXL1|FBL1|p45" "S-phase kinase-associated protein 2 (p45)|S-phase kinase-associated protein 2, E3 ubiquitin protein ligase" F-box and leucine rich repeat proteins 558 1995-12-18 2016-09-09 2023-03-15 6502 ENSG00000145604 OTTHUMG00000131106 uc003jkc.3 U33761 NM_005983 "CCDS3915|CCDS3916" Q13309 8646875 MGI:1351663 RGD:1562456 601436 HGNC:10901 "ENST00000274255.11|NM_005983.4" HGNC:55027 SKP2P1 SKP2 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-28 2020-05-28 100130500 ENSG00000229693 NG_022681 -HGNC:10902 SLA Src like adaptor protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "SLA1|SLAP-1|hSLAP|SLAP" "Src-like-adapter|Src-like-adaptor" "SH2 domain containing|MicroRNA protein coding host genes" "741|1691" 1995-08-11 2016-12-12 2023-01-20 6503 ENSG00000155926 OTTHUMG00000164439 uc003ytz.4 NM_001045556 "CCDS64977|CCDS64978|CCDS47922|CCDS6370|CCDS47923" Q13239 "8825655|11179692|26339145" MGI:104295 RGD:631373 601099 HGNC:10902 "ENST00000338087.10|NM_001045556.3" -HGNC:17329 SLA2 Src like adaptor 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "FLJ21992|SLAP-2" C20orf156 Src-like-adaptor 2 SH2 domain containing 741 2001-12-19 2016-06-17 2023-01-20 84174 ENSG00000101082 OTTHUMG00000032393 uc002xfv.4 AF326353 NM_175077 "CCDS13282|CCDS13283" Q9H6Q3 "11696592|26339145" MGI:1925049 RGD:1562071 606577 HGNC:17329 "ENST00000262866.9|NM_032214.4" -HGNC:26387 SLAIN1 SLAIN motif family member 1 protein-coding gene gene with protein product Approved 13q22.3 13q22.3 FLJ30046 C13orf32 chromosome 13 open reading frame 32 2006-08-08 2006-09-12 2015-11-13 2023-01-20 122060 ENSG00000139737 OTTHUMG00000017110 uc001vkm.3 AK054608 NM_144595 "CCDS91821|CCDS73589|CCDS55901|CCDS73588|CCDS91820|CCDS31995|CCDS9460" Q8ND83 16546155 MGI:2145578 RGD:1308626 610491 HGNC:26387 "ENST00000418532.6|NM_001242868.2" +HGNC:10902 SLA Src like adaptor protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "SLA1|SLAP-1|hSLAP|SLAP" "Src-like-adapter|Src-like-adaptor" "SH2 domain containing|MicroRNA protein coding host genes" "741|1691" 1995-08-11 2016-12-12 2023-01-20 6503 ENSG00000155926 OTTHUMG00000164439 uc003ytz.4 NM_001045556 "CCDS64977|CCDS64978|CCDS47923|CCDS6370|CCDS47922" Q13239 "8825655|11179692|26339145" MGI:104295 RGD:631373 601099 HGNC:10902 "ENST00000338087.10|NM_001045556.3" +HGNC:17329 SLA2 Src like adaptor 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "FLJ21992|SLAP-2" C20orf156 Src-like-adaptor 2 SH2 domain containing 741 2001-12-19 2016-06-17 2023-01-20 84174 ENSG00000101082 OTTHUMG00000032393 uc002xfv.4 AF326353 NM_175077 "CCDS13283|CCDS13282" Q9H6Q3 "11696592|26339145" MGI:1925049 RGD:1562071 606577 HGNC:17329 "ENST00000262866.9|NM_032214.4" +HGNC:26387 SLAIN1 SLAIN motif family member 1 protein-coding gene gene with protein product Approved 13q22.3 13q22.3 FLJ30046 C13orf32 chromosome 13 open reading frame 32 2006-08-08 2006-09-12 2015-11-13 2023-01-20 122060 ENSG00000139737 OTTHUMG00000017110 uc001vkm.3 AK054608 NM_144595 "CCDS55901|CCDS9460|CCDS31995|CCDS91821|CCDS91820|CCDS73588|CCDS73589" Q8ND83 16546155 MGI:2145578 RGD:1308626 610491 HGNC:26387 "ENST00000418532.6|NM_001242868.2" HGNC:29282 SLAIN2 SLAIN motif family member 2 protein-coding gene gene with protein product Approved 4p11 04p11 FLJ21611 KIAA1458 KIAA1458 2006-08-08 2006-09-12 2015-11-13 2023-01-20 57606 ENSG00000109171 OTTHUMG00000161701 uc003gya.5 BC006139 NM_020846 CCDS47051 Q9P270 16546155 MGI:1923241 RGD:1311593 610492 HGNC:29282 "ENST00000264313.11|NM_020846.2" HGNC:10903 SLAMF1 signaling lymphocytic activation molecule family member 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 CD150 SLAM signaling lymphocytic activation molecule "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1998-08-06 2003-10-31 2003-10-29 2023-01-20 6504 ENSG00000117090 OTTHUMG00000024006 uc001fwl.6 U33017 NM_001330754 "CCDS81389|CCDS1207" Q13291 7617038 MGI:1351314 RGD:1560634 603492 CD150 HGNC:10903 "ENST00000302035.11|NM_003037.5" -HGNC:21392 SLAMF6 SLAM family member 6 protein-coding gene gene with protein product Approved 1q23.2-q23.3 01q23.2-q23.3 "KALI|NTBA|KALIb|Ly108|SF2000|NTB-A|CD352" "CD molecules|V-set domain containing|Ig-like cell adhesion molecule family" "471|590|1410" 2003-10-29 2023-01-20 114836 ENSG00000162739 OTTHUMG00000022729 uc001fwd.2 AL832854 NM_052931 "CCDS1205|CCDS53394|CCDS53393" Q96DU3 11489943 MGI:1353620 RGD:1561848 606446 HGNC:21392 "ENST00000368057.8|NM_001184714.2" +HGNC:21392 SLAMF6 SLAM family member 6 protein-coding gene gene with protein product Approved 1q23.2-q23.3 01q23.2-q23.3 "KALI|NTBA|KALIb|Ly108|SF2000|NTB-A|CD352" "CD molecules|V-set domain containing|Ig-like cell adhesion molecule family" "471|590|1410" 2003-10-29 2023-01-20 114836 ENSG00000162739 OTTHUMG00000022729 uc001fwd.2 AL832854 NM_052931 "CCDS53394|CCDS53393|CCDS1205" Q96DU3 11489943 MGI:1353620 RGD:1561848 606446 HGNC:21392 "ENST00000368057.8|NM_001184714.2" HGNC:32012 SLAMF6P1 SLAM family member 6 pseudogene 1 pseudogene pseudogene Approved 1q23.3 01q23.3 2011-08-11 2011-08-11 100862852 ENSG00000227243 OTTHUMG00000031372 NG_032142 PGOHUM00000245049 HGNC:32012 -HGNC:21394 SLAMF7 SLAM family member 7 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CRACC|19A|CS1|CD319" "CD molecules|V-set domain containing" "471|590" 2003-10-29 2023-01-20 57823 ENSG00000026751 OTTHUMG00000024008 uc001fwq.5 AB027233 NM_021181 "CCDS72957|CCDS60323|CCDS72956|CCDS60321|CCDS60322|CCDS60324|CCDS1209|CCDS60325" Q9NQ25 "11802771|11220635" MGI:1922595 RGD:1560190 606625 objectId:2850 CD319 HGNC:21394 "ENST00000368043.8|NM_021181.5" +HGNC:21394 SLAMF7 SLAM family member 7 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CRACC|19A|CS1|CD319" "CD molecules|V-set domain containing" "471|590" 2003-10-29 2023-01-20 57823 ENSG00000026751 OTTHUMG00000024008 uc001fwq.5 AB027233 NM_021181 "CCDS60323|CCDS60325|CCDS60321|CCDS60322|CCDS72956|CCDS60324|CCDS72957|CCDS1209" Q9NQ25 "11802771|11220635" MGI:1922595 RGD:1560190 606625 objectId:2850 CD319 HGNC:21394 "ENST00000368043.8|NM_021181.5" HGNC:21391 SLAMF8 SLAM family member 8 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "BLAME|SBBI42|CD353" "CD molecules|Immunoglobulin like domain containing" "471|594" 2003-10-29 2023-01-20 56833 ENSG00000158714 OTTHUMG00000035433 uc001fue.5 AF146761 NM_020125 "CCDS81387|CCDS1188" Q9P0V8 11313408 MGI:1921998 RGD:1306263 606620 HGNC:21391 "ENST00000289707.10|NM_020125.3" -HGNC:18430 SLAMF9 SLAM family member 9 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "CD2F-10|CD84-H1|SF2001" V-set domain containing 590 2003-10-29 2023-01-20 89886 ENSG00000162723 OTTHUMG00000024074 uc001fus.3 AY034613 NM_033438 "CCDS1191|CCDS53392" Q96A28 11685473 MGI:1923692 RGD:1305945 608589 HGNC:18430 "ENST00000368093.4|NM_033438.4" -HGNC:10904 SLBP stem-loop binding protein protein-coding gene gene with protein product Approved 4p16.3 04p16.3 HBP histone binding protein stem-loop (histone) binding protein 2000-06-15 2008-02-11 2023-01-20 7884 ENSG00000163950 OTTHUMG00000089349 uc003gdi.2 Z71188 NM_006527 "CCDS82903|CCDS77889|CCDS3350" Q14493 "9049306|1338771" MGI:108402 RGD:1584682 602422 HGNC:10904 "ENST00000489418.6|NM_006527.4" +HGNC:18430 SLAMF9 SLAM family member 9 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "CD2F-10|CD84-H1|SF2001" V-set domain containing 590 2003-10-29 2023-01-20 89886 ENSG00000162723 OTTHUMG00000024074 uc001fus.3 AY034613 NM_033438 "CCDS53392|CCDS1191" Q96A28 11685473 MGI:1923692 RGD:1305945 608589 HGNC:18430 "ENST00000368093.4|NM_033438.4" +HGNC:10904 SLBP stem-loop binding protein protein-coding gene gene with protein product Approved 4p16.3 04p16.3 HBP histone binding protein stem-loop (histone) binding protein 2000-06-15 2008-02-11 2023-01-20 7884 ENSG00000163950 OTTHUMG00000089349 uc003gdi.2 Z71188 NM_006527 "CCDS77889|CCDS3350|CCDS82903" Q14493 "9049306|1338771" MGI:108402 RGD:1584682 602422 HGNC:10904 "ENST00000489418.6|NM_006527.4" HGNC:54813 SLBP-DT SLBP divergent transcript non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 Divergent transcripts 1990 2020-07-12 2020-07-16 118568800 ENSG00000270195 32079618 HGNC:10939 SLC1A1 solute carrier family 1 member 1 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 "EAAC1|EAAT3|hEAAC1" "Excitatory amino acid transporter 3|excitatory amino acid carrier 1" solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 Solute carrier family 1 2154 1994-02-15 2016-02-17 2023-01-20 6505 ENSG00000106688 OTTHUMG00000019468 uc003zij.3 NM_004170 CCDS6452 P43005 "8020993|21123949" MGI:105083 RGD:3696 133550 SLC1A1 353548 objectId:870 HGNC:10939 "ENST00000262352.8|NM_004170.6" HGNC:10939 -HGNC:10940 SLC1A2 solute carrier family 1 member 2 protein-coding gene gene with protein product Approved 11p13 11p13 "GLT-1|GLT1|EAAT2|HBGT" "glutamate transporter-1|Excitatory amino acid transporter 2|human brain glutamate transporter" solute carrier family 1 (glial high affinity glutamate transporter), member 2 Solute carrier family 1 2154 1994-02-15 2016-02-17 2023-01-20 6506 ENSG00000110436 OTTHUMG00000044391 uc001mwd.4 AB209444 NM_004171 "CCDS31459|CCDS55756" P43004 "1448170|26690923|27476654" MGI:101931 RGD:3697 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 600300 SLC1A2 471072 objectId:869 HGNC:10940 "ENST00000278379.9|NM_004171.4" HGNC:10940 +HGNC:10940 SLC1A2 solute carrier family 1 member 2 protein-coding gene gene with protein product Approved 11p13 11p13 "GLT-1|GLT1|EAAT2|HBGT" "glutamate transporter-1|Excitatory amino acid transporter 2|human brain glutamate transporter" solute carrier family 1 (glial high affinity glutamate transporter), member 2 Solute carrier family 1 2154 1994-02-15 2016-02-17 2023-01-20 6506 ENSG00000110436 OTTHUMG00000044391 uc001mwd.4 AB209444 NM_004171 "CCDS55756|CCDS31459" P43004 "1448170|26690923|27476654" MGI:101931 RGD:3697 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 600300 SLC1A2 471072 objectId:869 HGNC:10940 "ENST00000278379.9|NM_004171.4" HGNC:10940 HGNC:40534 SLC1A2-AS1 SLC1A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p13 11p13 Antisense RNAs 1987 2020-03-26 2020-03-26 107984324 ENSG00000255004 OTTHUMG00000166308 XR_001748185 -HGNC:40535 SLC1A2-AS2 SLC1A2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11p13 11p13 AC090625.2 Antisense RNAs 1987 2023-01-16 2023-01-16 128385377 ENSG00000255542 33499129 -HGNC:10941 SLC1A3 solute carrier family 1 member 3 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "EAAT1|GLAST|EA6|GLAST1|GLAST-1" "excitatory amino acid transporter 1|glutamate/aspartate transporter 1" solute carrier family 1 (glial high affinity glutamate transporter), member 3 Solute carrier family 1 2154 1994-02-15 2016-02-17 2023-01-20 6507 ENSG00000079215 OTTHUMG00000090793 uc003jkj.4 NM_004172 "CCDS78003|CCDS93705|CCDS3919|CCDS78004|CCDS54844" P43003 "7521911|7698014|8647279|32741053" MGI:99917 RGD:3698 600111 SLC1A3 212892 objectId:868 HGNC:10941 "ENST00000265113.9|NM_004172.5" HGNC:10941 +HGNC:40535 SLC1A2-AS2 SLC1A2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11p13 11p13 AC090625.2 Antisense RNAs 1987 2023-01-16 2023-01-16 128385377 ENSG00000255542 NR_186310 33499129 +HGNC:10941 SLC1A3 solute carrier family 1 member 3 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "EAAT1|GLAST|EA6|GLAST1|GLAST-1" "excitatory amino acid transporter 1|glutamate/aspartate transporter 1" solute carrier family 1 (glial high affinity glutamate transporter), member 3 Solute carrier family 1 2154 1994-02-15 2016-02-17 2023-01-20 6507 ENSG00000079215 OTTHUMG00000090793 uc003jkj.4 NM_004172 "CCDS78004|CCDS3919|CCDS54844|CCDS78003|CCDS93705" P43003 "7521911|7698014|8647279|32741053" MGI:99917 RGD:3698 600111 SLC1A3 212892 objectId:868 HGNC:10941 "ENST00000265113.9|NM_004172.5" HGNC:10941 HGNC:56374 SLC1A3-AS1 SLC1A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 "AC008957.1|CTD-2353F22.1" Antisense RNAs 1987 2022-10-17 2022-11-14 107986412 ENSG00000250155 XR_001742638 36129033 -HGNC:10942 SLC1A4 solute carrier family 1 member 4 protein-coding gene gene with protein product Approved 2p14 02p14 "SATT|ASCT1|ASCT-1" "alanine/serine/cysteine/threonine transporter|neutral amino acid transporter A" solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 Solute carrier family 1 2154 1993-12-16 2016-02-17 2023-03-15 6509 ENSG00000115902 OTTHUMG00000129537 uc010yqa.3 NM_003038 "CCDS1879|CCDS54362" P43007 "7896285|8910405|26041762" MGI:2135601 RGD:735146 600229 SLC1A4 457197 objectId:873 HGNC:10942 "ENST00000234256.4|NM_003038.5" HGNC:10942 -HGNC:10943 SLC1A5 solute carrier family 1 member 5 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "AAAT|ASCT2" "RDRC|M7V1" solute carrier family 1 (neutral amino acid transporter), member 5 "Minor histocompatibility antigens|Solute carrier family 1" "870|2154" 1994-09-27 2016-02-17 2023-01-20 6510 ENSG00000105281 OTTHUMG00000183434 uc002pfs.4 U53347 NM_001145144 "CCDS46126|CCDS12692|CCDS46125" Q15758 "8702519|10051606" MGI:105305 RGD:708512 109190 SLC1A5 objectId:874 HGNC:10943 "ENST00000542575.6|NM_005628.3" -HGNC:10944 SLC1A6 solute carrier family 1 member 6 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 EAAT4 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 Solute carrier family 1 2154 1997-02-05 2016-02-17 2023-01-20 6511 ENSG00000105143 OTTHUMG00000183351 uc002naa.3 NM_005071 "CCDS12321|CCDS62578" P48664 7791878 MGI:1096331 RGD:620340 600637 SLC1A6 objectId:871 HGNC:10944 "ENST00000594383.2|NM_005071.3" -HGNC:10945 SLC1A7 solute carrier family 1 member 7 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 EAAT5 solute carrier family 1 (glutamate transporter), member 7 Solute carrier family 1 2154 1996-11-15 2016-02-17 2023-01-20 6512 ENSG00000162383 OTTHUMG00000008937 uc001cuy.5 U76362 NM_006671 "CCDS574|CCDS72797|CCDS72798|CCDS72796" O00341 9108121 MGI:2444087 RGD:1311928 604471 SLC1A7 objectId:872 HGNC:10945 "ENST00000371494.9|NM_006671.6" +HGNC:10942 SLC1A4 solute carrier family 1 member 4 protein-coding gene gene with protein product Approved 2p14 02p14 "SATT|ASCT1|ASCT-1" "alanine/serine/cysteine/threonine transporter|neutral amino acid transporter A" solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 Solute carrier family 1 2154 1993-12-16 2016-02-17 2023-03-15 6509 ENSG00000115902 OTTHUMG00000129537 uc010yqa.3 NM_003038 "CCDS54362|CCDS1879" P43007 "7896285|8910405|26041762" MGI:2135601 RGD:735146 600229 SLC1A4 457197 objectId:873 HGNC:10942 "ENST00000234256.4|NM_003038.5" HGNC:10942 +HGNC:10943 SLC1A5 solute carrier family 1 member 5 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "AAAT|ASCT2" "RDRC|M7V1" solute carrier family 1 (neutral amino acid transporter), member 5 "Minor histocompatibility antigens|Solute carrier family 1" "870|2154" 1994-09-27 2016-02-17 2023-01-20 6510 ENSG00000105281 OTTHUMG00000183434 uc002pfs.4 U53347 NM_001145144 "CCDS46125|CCDS46126|CCDS12692" Q15758 "8702519|10051606" MGI:105305 RGD:708512 109190 SLC1A5 objectId:874 HGNC:10943 "ENST00000542575.6|NM_005628.3" +HGNC:10944 SLC1A6 solute carrier family 1 member 6 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 EAAT4 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 Solute carrier family 1 2154 1997-02-05 2016-02-17 2023-01-20 6511 ENSG00000105143 OTTHUMG00000183351 uc002naa.3 NM_005071 "CCDS62578|CCDS12321" P48664 7791878 MGI:1096331 RGD:620340 600637 SLC1A6 objectId:871 HGNC:10944 "ENST00000594383.2|NM_005071.3" +HGNC:10945 SLC1A7 solute carrier family 1 member 7 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 EAAT5 solute carrier family 1 (glutamate transporter), member 7 Solute carrier family 1 2154 1996-11-15 2016-02-17 2023-01-20 6512 ENSG00000162383 OTTHUMG00000008937 uc001cuy.5 U76362 NM_006671 "CCDS72797|CCDS72798|CCDS574|CCDS72796" O00341 9108121 MGI:2444087 RGD:1311928 604471 SLC1A7 objectId:872 HGNC:10945 "ENST00000371494.9|NM_006671.6" HGNC:11005 SLC2A1 solute carrier family 2 member 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "DYT18|DYT9|GLUT-1" "dystonia gene 18|dystonia gene 9" "GLUT1|GLUT|HTLVR|CSE" "human T-cell leukemia virus (I and II) receptor|choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)|solute carrier family 2 (facilitated glucose transporter), member 1" Solute carrier family 2 2155 1994-11-18 2016-02-17 2023-01-20 6513 ENSG00000117394 OTTHUMG00000007657 uc001cik.3 K03195 NM_006516 CCDS477 P11166 "8839927|14622599|18451999|21832227|18577546" MGI:95755 RGD:3704 LRG_1132|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1132.xml 138140 SLC2A1 158410 objectId:875 HGNC:11005 "ENST00000426263.10|NM_006516.4" HGNC:11005 HGNC:44187 SLC2A1-DT SLC2A1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 SLC2A1-AS1 "SLC2A1 antisense RNA 1 (non-protein coding)|SLC2A1 antisense RNA 1" Divergent transcripts 1990 2012-06-30 2021-07-29 2021-07-29 2021-07-29 440584 ENSG00000227533 OTTHUMG00000007699 uc001cil.3 AK056786 NR_033967 SLC2A1-AS1 HGNC:44187 HGNC:11006 SLC2A2 solute carrier family 2 member 2 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 GLUT-2 GLUT2 solute carrier family 2 (facilitated glucose transporter), member 2 Solute carrier family 2 2155 1989-01-13 2016-02-17 2023-01-20 6514 ENSG00000163581 OTTHUMG00000158997 uc003fhe.2 J03810 NM_000340 CCDS3215 P11168 "1852621|34828390" MGI:1095438 RGD:3705 138160 SLC2A2 118828 objectId:876 HGNC:11006 "ENST00000314251.8|NM_000340.2" HGNC:11006 @@ -35397,36 +35400,36 @@ HGNC:31074 SLC2A3P2 solute carrier family 2 member 3 pseudogene 2 pseudogene pse HGNC:31076 SLC2A3P4 solute carrier family 2 member 3 pseudogene 4 pseudogene pseudogene Approved 8q21.3 08q21.3 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 4 2004-01-26 2016-02-17 2016-02-17 399495 ENSG00000254088 OTTHUMG00000163721 AC103817 NG_009577 SLC2A3P4 PGOHUM00000249736 HGNC:31076 HGNC:11009 SLC2A4 solute carrier family 2 member 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 GLUT4 solute carrier family 2 (facilitated glucose transporter), member 4 Solute carrier family 2 2155 1989-03-06 2016-02-17 2023-01-20 6517 ENSG00000181856 OTTHUMG00000102181 uc002gfp.4 M20747 NM_001042 CCDS11097 P14672 MGI:95758 RGD:2711 138190 SLC2A4 objectId:878 HGNC:11009 "ENST00000317370.13|NM_001042.3" HGNC:15930 SLC2A4RG SLC2A4 regulator protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "GEF|HDBP1|Si-1-2|Si-1-2-19" "GLUT4 enhancer factor|Huntington's disease gene regulatory region-binding protein 1" 2001-06-21 2023-01-20 56731 ENSG00000125520 OTTHUMG00000032997 uc002ygq.4 AF249267 NM_020062 CCDS13537 Q9NR83 10825161 RGD:41152591 609493 HGNC:15930 "ENST00000266077.5|NM_020062.4" -HGNC:11010 SLC2A5 solute carrier family 2 member 5 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 GLUT5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 Solute carrier family 2 2155 1994-05-25 2016-02-17 2023-01-20 6518 ENSG00000142583 OTTHUMG00000001771 uc001apo.4 BC001820 NM_003039 "CCDS99|CCDS44054" P22732 9691177 MGI:1928369 RGD:68328 138230 SLC2A5 471080 objectId:880 HGNC:11010 "ENST00000377424.9|NM_003039.3" +HGNC:11010 SLC2A5 solute carrier family 2 member 5 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 GLUT5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 Solute carrier family 2 2155 1994-05-25 2016-02-17 2023-01-20 6518 ENSG00000142583 OTTHUMG00000001771 uc001apo.4 BC001820 NM_003039 "CCDS44054|CCDS99" P22732 9691177 MGI:1928369 RGD:68328 138230 SLC2A5 471080 objectId:880 HGNC:11010 "ENST00000377424.9|NM_003039.3" HGNC:11011 SLC2A6 solute carrier family 2 member 6 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "GLUT9|GLUT6|HSA011372" solute carrier family 2 (facilitated glucose transporter), member 6 Solute carrier family 2 2155 1999-09-07 2016-02-17 2023-01-20 11182 ENSG00000160326 OTTHUMG00000020874 uc004cee.4 AJ011372 NM_017585 "CCDS48052|CCDS6975" Q9UGQ3 10970791 MGI:2443286 RGD:1309317 606813 SLC2A6 objectId:884 HGNC:11011 "ENST00000371899.9|NM_017585.4" HGNC:11011 HGNC:13445 SLC2A7 solute carrier family 2 member 7 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 GLUT7 intestinal facilitative glucose transporter 7 solute carrier family 2 (facilitated glucose transporter), member 7 Solute carrier family 2 2155 2001-11-02 2016-02-17 2023-01-20 155184 ENSG00000197241 OTTHUMG00000057499 uc009vmo.1 AL356306 NM_207420 CCDS98 Q6PXP3 11780753 MGI:3650865 RGD:1583902 610371 SLC2A7 objectId:881 HGNC:13445 "ENST00000400906.2|NM_207420.3" -HGNC:13812 SLC2A8 solute carrier family 2 member 8 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "GLUTX1|GLUT8" "solute carrier family 2 (facilitated glucose transporter) member 8|solute carrier family 2 (facilitated glucose transporter), member 8" Solute carrier family 2 2155 2000-11-09 2016-02-17 2023-01-20 29988 ENSG00000136856 OTTHUMG00000020702 uc004bqu.5 AJ245937 NM_014580 "CCDS75903|CCDS6870|CCDS65138" Q9NY64 "10671487|10821868" MGI:1860103 RGD:620611 605245 SLC2A8 objectId:885 HGNC:13812 "ENST00000373371.8|NM_014580.5" -HGNC:13446 SLC2A9 solute carrier family 2 member 9 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "Glut9|GLUTX|URATv1" urate voltage-driven efflux transporter 1 solute carrier family 2 (facilitated glucose transporter), member 9 Solute carrier family 2 2155 2000-09-28 2016-02-17 2023-01-20 56606 ENSG00000109667 OTTHUMG00000044263 uc003gmc.4 AF210317 NM_001001290 "CCDS3407|CCDS3406" Q9NRM0 "10860667|17710649" MGI:2152844 RGD:1597012 606142 SLC2A9 171045 objectId:882 HGNC:13446 "ENST00000264784.8|NM_020041.3" HGNC:13446 +HGNC:13812 SLC2A8 solute carrier family 2 member 8 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "GLUTX1|GLUT8" "solute carrier family 2 (facilitated glucose transporter) member 8|solute carrier family 2 (facilitated glucose transporter), member 8" Solute carrier family 2 2155 2000-11-09 2016-02-17 2023-01-20 29988 ENSG00000136856 OTTHUMG00000020702 uc004bqu.5 AJ245937 NM_014580 "CCDS65138|CCDS75903|CCDS6870" Q9NY64 "10671487|10821868" MGI:1860103 RGD:620611 605245 SLC2A8 objectId:885 HGNC:13812 "ENST00000373371.8|NM_014580.5" +HGNC:13446 SLC2A9 solute carrier family 2 member 9 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "Glut9|GLUTX|URATv1" urate voltage-driven efflux transporter 1 solute carrier family 2 (facilitated glucose transporter), member 9 Solute carrier family 2 2155 2000-09-28 2016-02-17 2023-01-20 56606 ENSG00000109667 OTTHUMG00000044263 uc003gmc.4 AF210317 NM_001001290 "CCDS3406|CCDS3407" Q9NRM0 "10860667|17710649" MGI:2152844 RGD:1597012 606142 SLC2A9 171045 objectId:882 HGNC:13446 "ENST00000264784.8|NM_020041.3" HGNC:13446 HGNC:40636 SLC2A9-AS1 SLC2A9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 Antisense RNAs 1987 2020-03-26 2020-03-26 105374476 ENSG00000250413 OTTHUMG00000160251 NR_183861 HGNC:13444 SLC2A10 solute carrier family 2 member 10 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "GLUT10|GLUT-10" facilitative glucose transporter GLUT10 solute carrier family 2 (facilitated glucose transporter), member 10 Solute carrier family 2 2155 2001-04-02 2016-02-17 2023-01-20 81031 ENSG00000197496 OTTHUMG00000032657 uc002xsl.4 AL137188 NM_030777 CCDS13402 O95528 "11247674|16550171|25373504" MGI:2156687 RGD:1306552 606145 SLC2A10 118825 objectId:886 HGNC:13444 "ENST00000359271.4|NM_030777.4" HGNC:13444 -HGNC:14239 SLC2A11 solute carrier family 2 member 11 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 GLUT11 solute carrier family 2 (facilitated glucose transporter), member 11 Solute carrier family 2 2155 2001-02-14 2016-02-17 2023-01-20 66035 ENSG00000133460 OTTHUMG00000166469 uc002zyn.6 AJ271290 NM_030807 "CCDS46673|CCDS13818|CCDS74828|CCDS33616" Q9BYW1 610367 SLC2A11 objectId:883 HGNC:14239 "ENST00000316185.9|NM_001024939.4" +HGNC:14239 SLC2A11 solute carrier family 2 member 11 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 GLUT11 solute carrier family 2 (facilitated glucose transporter), member 11 Solute carrier family 2 2155 2001-02-14 2016-02-17 2023-01-20 66035 ENSG00000133460 OTTHUMG00000166469 uc002zyn.6 AJ271290 NM_030807 "CCDS74828|CCDS13818|CCDS46673|CCDS33616" Q9BYW1 610367 SLC2A11 objectId:883 HGNC:14239 "ENST00000316185.9|NM_001024939.4" HGNC:18067 SLC2A12 solute carrier family 2 member 12 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "GLUT12|GLUT8" solute carrier family 2 (facilitated glucose transporter), member 12 Solute carrier family 2 2155 2002-01-24 2016-02-17 2023-01-20 154091 ENSG00000146411 OTTHUMG00000015611 uc003qem.2 AL035699 NM_145176 CCDS5169 Q8TD20 "11780753|11832379" MGI:3052471 RGD:1310175 610372 SLC2A12 objectId:887 HGNC:18067 "ENST00000275230.6|NM_145176.3" HGNC:15956 SLC2A13 solute carrier family 2 member 13 protein-coding gene gene with protein product Approved 12q12 12q12 HMIT H(+)-myo-inositol symporter solute carrier family 2 (facilitated glucose transporter), member 13 Solute carrier family 2 2155 2001-11-02 2016-02-17 2023-01-20 114134 ENSG00000151229 OTTHUMG00000059743 uc010skm.2 AJ315644 NM_052885 CCDS8736 Q96QE2 11500374 MGI:2146030 RGD:621814 611036 SLC2A13 objectId:888 HGNC:15956 "ENST00000280871.9|NM_052885.4" HGNC:48929 SLC2A13P1 SLC2A13 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 2013-07-15 2013-07-15 106480239 ENSG00000254954 OTTHUMG00000165324 NG_043800 PGOHUM00000249685 HGNC:48929 -HGNC:18301 SLC2A14 solute carrier family 2 member 14 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 GLUT14 SLC2A3P3 "solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3|solute carrier family 2 (facilitated glucose transporter), member 14" Solute carrier family 2 2155 2003-03-05 2016-02-17 2023-01-20 144195 ENSG00000173262 OTTHUMG00000168463 uc001qtk.5 AF481878 NM_153449 "CCDS66301|CCDS66300|CCDS66302|CCDS8585" Q8TDB8 12504846 MGI:95757 611039 SLC2A14 objectId:879 HGNC:18301 "ENST00000431042.7|NM_001286234.2" +HGNC:18301 SLC2A14 solute carrier family 2 member 14 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 GLUT14 SLC2A3P3 "solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3|solute carrier family 2 (facilitated glucose transporter), member 14" Solute carrier family 2 2155 2003-03-05 2016-02-17 2023-01-20 144195 ENSG00000173262 OTTHUMG00000168463 uc001qtk.5 AF481878 NM_153449 "CCDS66302|CCDS66300|CCDS8585|CCDS66301" Q8TDB8 12504846 MGI:95757 611039 SLC2A14 objectId:879 HGNC:18301 "ENST00000431042.7|NM_001286234.2" HGNC:31077 SLC2AXP1 solute carrier family 2 pseudogene 1 pseudogene pseudogene Approved 2q11.1 02q11.1 solute carrier family 2 (facilitated glucose transporter), pseudogene 1 2004-01-26 2016-02-17 2016-02-17 399496 ENSG00000275768 OTTHUMG00000187613 AC026626 NG_011411.1 11882521 SLC2AXP1 PGOHUM00000298016 HGNC:31077 HGNC:11025 SLC3A1 solute carrier family 3 member 1 protein-coding gene gene with protein product Approved 2p21 02p21 "CSNU1|D2H|RBAT|ATR1|NBAT" "neutral and basic amino acid transport protein rBAT|amino acid transporter 1" "solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1|solute carrier family 3 (amino acid transporter heavy chain), member 1" Solute carrier family 3 2156 1993-12-16 2016-02-17 2023-01-20 6519 ENSG00000138079 OTTHUMG00000128759 uc002ruc.5 NM_000341 CCDS1819 Q07837 "8486766|9186880" MGI:1195264 RGD:3709 104614 SLC3A1 123426 objectId:889 HGNC:11025 "ENST00000260649.11|NM_000341.4" HGNC:11025 -HGNC:11026 SLC3A2 solute carrier family 3 member 2 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "4T2HC|4F2|NACAE|CD98|CD98HC|4F2HC" "antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43|antigen defined by monoclonal antibody 4F2|heavy chain|4F2 heavy chain|CD98 heavy chain|monoclonal antibody 44D7|4F2 cell-surface antigen heavy chain|lymphocyte activation antigen 4F2 large subunit" MDU1 "solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2|solute carrier family 3 (amino acid transporter heavy chain), member 2" Solute carrier family 3 2156 1994-02-15 2016-02-17 2023-03-15 6520 ENSG00000168003 OTTHUMG00000074091 uc001nwf.4 NM_001012661 "CCDS8039|CCDS31590|CCDS31588|CCDS31589" P08195 3036867 MGI:96955 RGD:3073 158070 SLC3A2 471086 objectId:890 HGNC:11026 "ENST00000338663.12|NM_001013251.3" +HGNC:11026 SLC3A2 solute carrier family 3 member 2 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "4T2HC|4F2|NACAE|CD98|CD98HC|4F2HC" "antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43|antigen defined by monoclonal antibody 4F2|heavy chain|4F2 heavy chain|CD98 heavy chain|monoclonal antibody 44D7|4F2 cell-surface antigen heavy chain|lymphocyte activation antigen 4F2 large subunit" MDU1 "solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2|solute carrier family 3 (amino acid transporter heavy chain), member 2" Solute carrier family 3 2156 1994-02-15 2016-02-17 2023-03-15 6520 ENSG00000168003 OTTHUMG00000074091 uc001nwf.4 NM_001012661 "CCDS31590|CCDS31588|CCDS31589|CCDS8039" P08195 3036867 MGI:96955 RGD:3073 158070 SLC3A2 471086 objectId:890 HGNC:11026 "ENST00000338663.12|NM_001013251.3" HGNC:11027 SLC4A1 solute carrier family 4 member 1 (Diego blood group) protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RTA1A|CD233|FR|SW|WR|EMPB3" "Froese blood group|Swann blood group|Wright blood group|Band 3 anion transport protein" "EPB3|AE1|DI|WD" "Waldner blood group|erythrocyte membrane protein band 3|Diego blood group|solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)|solute carrier family 4 (anion exchanger), member 1|solute carrier family 4 (anion exchanger), member 1 (Diego blood group)" "Blood group antigens|CD molecules|Solute carrier family 4" "454|471|2157" 1988-04-20 2016-02-17 2023-01-20 6521 ENSG00000004939 OTTHUMG00000156843 uc002igf.5 NM_000342 CCDS11481 P02730 "3179308|27058983" MGI:109393 RGD:3710 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_803|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_803.xml" 109270 SLC4A1 119669 objectId:904 CD233 HGNC:11027 "ENST00000262418.12|NM_000342.4" HGNC:11027 HGNC:13813 SLC4A1AP solute carrier family 4 member 1 adaptor protein protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "kanadaptin|HLC3" lung cancer oncogene 3 "solute carrier family 4 (anion exchanger), member 1, adapter protein|solute carrier family 4 (anion exchanger), member 1, adaptor protein" 2000-11-09 2016-02-17 2023-01-20 22950 ENSG00000163798 OTTHUMG00000151944 uc061hrh.1 NM_018158 CCDS33166 Q9BWU0 9422766 MGI:1196608 RGD:1307080 602655 HGNC:13813 "ENST00000326019.11|NM_018158.3" HGNC:49811 SLC4A1APP1 solute carrier family 4 member 1 adaptor protein pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 solute carrier family 4 (anion exchanger), member 1, adaptor protein pseudogene 1 2014-03-06 2016-02-17 2016-02-17 100288436 ENSG00000232060 OTTHUMG00000019728 NG_021610 PGOHUM00000236000 HGNC:49811 HGNC:49812 SLC4A1APP2 solute carrier family 4 member 1 adaptor protein pseudogene 2 pseudogene pseudogene Approved 1q31.1 01q31.1 solute carrier family 4 (anion exchanger), member 1, adaptor protein pseudogene 2 2014-03-06 2016-02-17 2016-02-17 100422527 ENSG00000236401 OTTHUMG00000035625 NG_027181 PGOHUM00000245127 HGNC:49812 -HGNC:11028 SLC4A2 solute carrier family 4 member 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HKB3|BND3L|NBND3" "anion exchanger 2 type a|anion exchanger 2 type b1|anion exchanger 2 type b2" "EPB3L1|AE2" "erythrocyte membrane protein band 3-like 1|solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)|solute carrier family 4 (anion exchanger), member 2" Solute carrier family 4 2157 1986-01-01 2016-02-17 2023-01-20 6522 ENSG00000164889 OTTHUMG00000158443 uc022apz.2 NM_003040 "CCDS56521|CCDS5917|CCDS56520" P04920 8434259 MGI:109351 RGD:3711 109280 SLC4A2 471092 objectId:905 HGNC:11028 "ENST00000413384.7|NM_003040.4" +HGNC:11028 SLC4A2 solute carrier family 4 member 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HKB3|BND3L|NBND3" "anion exchanger 2 type a|anion exchanger 2 type b1|anion exchanger 2 type b2" "EPB3L1|AE2" "erythrocyte membrane protein band 3-like 1|solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)|solute carrier family 4 (anion exchanger), member 2" Solute carrier family 4 2157 1986-01-01 2016-02-17 2023-01-20 6522 ENSG00000164889 OTTHUMG00000158443 uc022apz.2 NM_003040 "CCDS5917|CCDS56520|CCDS56521" P04920 8434259 MGI:109351 RGD:3711 109280 SLC4A2 471092 objectId:905 HGNC:11028 "ENST00000413384.7|NM_003040.4" HGNC:11029 SLC4A3 solute carrier family 4 member 3 protein-coding gene gene with protein product Approved 2q35 02q35 "AE3|SLC2C" Anion exchanger 3, neuronal "solute carrier family 4, anion exchanger, member 3|solute carrier family 4 (anion exchanger), member 3" Solute carrier family 4 2157 1994-08-10 2016-02-17 2023-01-20 6508 ENSG00000114923 OTTHUMG00000059238 uc002vmo.5 NM_005070 "CCDS2445|CCDS2446" P48751 8001971 MGI:109350 RGD:3712 106195 SLC4A3 objectId:906 HGNC:11029 "ENST00000358055.8|NM_005070.4" HGNC:11029 -HGNC:11030 SLC4A4 solute carrier family 4 member 4 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "NBC1|HNBC1|NBC2|pNBC|hhNMC|kNBC1|KNBC|NBCe1" "Electrogenic sodium bicarbonate cotransporter 1|kidney type Na+/HCO3- cotransporter|pancreatic sodium bicarbonate cotransporter" SLC4A5 "solute carrier family 4, sodium bicarbonate cotransporter, member 4|solute carrier family 4 (sodium bicarbonate cotransporter), member 4" Solute carrier family 4 2157 1998-12-11 2016-02-17 2023-01-20 8671 ENSG00000080493 OTTHUMG00000129907 uc003hfy.4 AF007216 NM_003759 "CCDS43236|CCDS3549|CCDS47071" Q9Y6R1 "9235899|9651366" MGI:1927555 RGD:68936 603345 SLC4A4 119685 objectId:908 HGNC:11030 "ENST00000264485.11|NM_001098484.3" HGNC:11030 +HGNC:11030 SLC4A4 solute carrier family 4 member 4 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "NBC1|HNBC1|NBC2|pNBC|hhNMC|kNBC1|KNBC|NBCe1" "Electrogenic sodium bicarbonate cotransporter 1|kidney type Na+/HCO3- cotransporter|pancreatic sodium bicarbonate cotransporter" SLC4A5 "solute carrier family 4, sodium bicarbonate cotransporter, member 4|solute carrier family 4 (sodium bicarbonate cotransporter), member 4" Solute carrier family 4 2157 1998-12-11 2016-02-17 2023-01-20 8671 ENSG00000080493 OTTHUMG00000129907 uc003hfy.4 AF007216 NM_003759 "CCDS47071|CCDS3549|CCDS43236" Q9Y6R1 "9235899|9651366" MGI:1927555 RGD:68936 603345 SLC4A4 119685 objectId:908 HGNC:11030 "ENST00000264485.11|NM_001098484.3" HGNC:11030 HGNC:18168 SLC4A5 solute carrier family 4 member 5 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 NBC4 "solute carrier family 4, sodium bicarbonate cotransporter, member 5|solute carrier family 4 (sodium bicarbonate cotransporter), member 5" Solute carrier family 4 2157 2002-03-06 2016-02-17 2023-03-15 57835 ENSG00000188687 OTTHUMG00000090263 uc061ktd.1 AF243499 NM_001386136 "CCDS1936|CCDS1937" Q9BY07 "10978526|11087115" MGI:2443220 RGD:1303009 606757 SLC4A5 objectId:909 HGNC:18168 "ENST00000394019.7|NM_133478.3" -HGNC:11033 SLC4A7 solute carrier family 4 member 7 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 "NBC3|SBC2" SLC4A6 solute carrier family 4, sodium bicarbonate cotransporter, member 7 Solute carrier family 4 2157 1999-04-16 2016-02-17 2023-01-20 9497 ENSG00000033867 OTTHUMG00000155679 uc011axa.4 AB012130 NM_003615 "CCDS58820|CCDS33721|CCDS82748|CCDS82751|CCDS82749|CCDS82747|CCDS82750|CCDS58819" Q9Y6M7 "10198178|9610397" MGI:2443878 RGD:621208 603353 SLC4A7 objectId:910 HGNC:11033 "ENST00000454389.6|NM_001321103.2" HGNC:11033 -HGNC:11034 SLC4A8 solute carrier family 4 member 8 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 NBC3 solute carrier family 4, sodium bicarbonate cotransporter, member 8 Solute carrier family 4 2157 1999-04-16 2016-02-17 2023-03-15 9498 ENSG00000050438 OTTHUMG00000169489 uc001rys.3 AB018282 NM_004858 "CCDS44890|CCDS73470|CCDS58233|CCDS58232" Q2Y0W8 11133997 MGI:1928745 RGD:735164 605024 SLC4A8 objectId:912 HGNC:11034 "ENST00000453097.7|NM_001039960.3" HGNC:11034 +HGNC:11033 SLC4A7 solute carrier family 4 member 7 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 "NBC3|SBC2" SLC4A6 solute carrier family 4, sodium bicarbonate cotransporter, member 7 Solute carrier family 4 2157 1999-04-16 2016-02-17 2023-01-20 9497 ENSG00000033867 OTTHUMG00000155679 uc011axa.4 AB012130 NM_003615 "CCDS82750|CCDS82748|CCDS82749|CCDS33721|CCDS82751|CCDS58820|CCDS58819|CCDS82747" Q9Y6M7 "10198178|9610397" MGI:2443878 RGD:621208 603353 SLC4A7 objectId:910 HGNC:11033 "ENST00000454389.6|NM_001321103.2" HGNC:11033 +HGNC:11034 SLC4A8 solute carrier family 4 member 8 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 NBC3 solute carrier family 4, sodium bicarbonate cotransporter, member 8 Solute carrier family 4 2157 1999-04-16 2016-02-17 2023-03-15 9498 ENSG00000050438 OTTHUMG00000169489 uc001rys.3 AB018282 NM_004858 "CCDS44890|CCDS58232|CCDS73470|CCDS58233" Q2Y0W8 11133997 MGI:1928745 RGD:735164 605024 SLC4A8 objectId:912 HGNC:11034 "ENST00000453097.7|NM_001039960.3" HGNC:11034 HGNC:55259 SLC4A8-AS1 SLC4A8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Antisense RNAs 1987 2020-09-25 2020-09-25 107984508 ENSG00000271065 XR_001749147 -HGNC:11035 SLC4A9 solute carrier family 4 member 9 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 AE4 solute carrier family 4, sodium bicarbonate cotransporter, member 9 Solute carrier family 4 2157 1999-12-16 2016-02-17 2023-01-20 83697 ENSG00000113073 OTTHUMG00000163352 uc003lfl.3 AF313465 NM_031467 "CCDS58975|CCDS58974|CCDS47278|CCDS58973" Q96Q91 11305939 MGI:2443384 RGD:628811 610207 SLC4A9 objectId:907 HGNC:11035 "ENST00000506757.7|NM_031467.3" -HGNC:13811 SLC4A10 solute carrier family 4 member 10 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "NBCn2|NCBE" "solute carrier family 4, sodium bicarbonate transporter-like, member 10|solute carrier family 4, sodium bicarbonate transporter, member 10" Solute carrier family 4 2157 2000-11-09 2016-02-17 2023-01-20 57282 ENSG00000144290 OTTHUMG00000153938 uc002uby.5 NM_022058 "CCDS86888|CCDS46438|CCDS54411|CCDS54412" Q6U841 "10964153|18319254" MGI:2150150 RGD:631407 605556 SLC4A10 471090 objectId:911 HGNC:13811 "ENST00000446997.6|NM_001178015.2" -HGNC:16438 SLC4A11 solute carrier family 4 member 11 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ794I6.2|BTR1|NaBC1|FECD4" "bicarbonate transporter related protein 1|sodium-coupled borate cotransporter 1" "CHED2|CDPD1" "corneal endothelial dystrophy 2 (autosomal recessive)|solute carrier family 4, sodium bicarbonate transporter-like, member 11|corneal dystrophy and perceptive deafness 1|solute carrier family 4, sodium borate transporter, member 11" Solute carrier family 4 2157 2001-11-02 2016-02-17 2023-01-20 83959 ENSG00000088836 OTTHUMG00000031740 uc002wig.3 AF336127 NM_001174089 "CCDS13052|CCDS86932|CCDS54446|CCDS54445" Q8NBS3 "10843999|11302728|16767101" MGI:2138987 RGD:1310188 610206 SLC4A11 119680 objectId:913 HGNC:16438 "ENST00000642402.1|NM_001174089.2" HGNC:16438 -HGNC:11036 SLC5A1 solute carrier family 5 member 1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "D22S675|NAGT|SGLT-1" sodium/glucose cotransporter 1 SGLT1 solute carrier family 5 (sodium/glucose cotransporter), member 1 Solute carrier family 5 2158 1988-08-05 2016-02-17 2023-01-20 6523 ENSG00000100170 OTTHUMG00000030768 uc003amc.4 NM_000343 "CCDS13902|CCDS58805" P13866 "8195156|22843301" MGI:107678 RGD:3713 182380 SLC5A1 119693 objectId:915 HGNC:11036 "ENST00000266088.9|NM_000343.4" HGNC:11036 +HGNC:11035 SLC4A9 solute carrier family 4 member 9 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 AE4 solute carrier family 4, sodium bicarbonate cotransporter, member 9 Solute carrier family 4 2157 1999-12-16 2016-02-17 2023-01-20 83697 ENSG00000113073 OTTHUMG00000163352 uc003lfl.3 AF313465 NM_031467 "CCDS58973|CCDS58974|CCDS47278|CCDS58975" Q96Q91 11305939 MGI:2443384 RGD:628811 610207 SLC4A9 objectId:907 HGNC:11035 "ENST00000506757.7|NM_031467.3" +HGNC:13811 SLC4A10 solute carrier family 4 member 10 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "NBCn2|NCBE" "solute carrier family 4, sodium bicarbonate transporter-like, member 10|solute carrier family 4, sodium bicarbonate transporter, member 10" Solute carrier family 4 2157 2000-11-09 2016-02-17 2023-01-20 57282 ENSG00000144290 OTTHUMG00000153938 uc002uby.5 NM_022058 "CCDS54412|CCDS46438|CCDS54411|CCDS86888" Q6U841 "10964153|18319254" MGI:2150150 RGD:631407 605556 SLC4A10 471090 objectId:911 HGNC:13811 "ENST00000446997.6|NM_001178015.2" +HGNC:16438 SLC4A11 solute carrier family 4 member 11 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ794I6.2|BTR1|NaBC1|FECD4" "bicarbonate transporter related protein 1|sodium-coupled borate cotransporter 1" "CHED2|CDPD1" "corneal endothelial dystrophy 2 (autosomal recessive)|solute carrier family 4, sodium bicarbonate transporter-like, member 11|corneal dystrophy and perceptive deafness 1|solute carrier family 4, sodium borate transporter, member 11" Solute carrier family 4 2157 2001-11-02 2016-02-17 2023-01-20 83959 ENSG00000088836 OTTHUMG00000031740 uc002wig.3 AF336127 NM_001174089 "CCDS54445|CCDS13052|CCDS54446|CCDS86932" Q8NBS3 "10843999|11302728|16767101" MGI:2138987 RGD:1310188 610206 SLC4A11 119680 objectId:913 HGNC:16438 "ENST00000642402.1|NM_001174089.2" HGNC:16438 +HGNC:11036 SLC5A1 solute carrier family 5 member 1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "D22S675|NAGT|SGLT-1" sodium/glucose cotransporter 1 SGLT1 solute carrier family 5 (sodium/glucose cotransporter), member 1 Solute carrier family 5 2158 1988-08-05 2016-02-17 2023-01-20 6523 ENSG00000100170 OTTHUMG00000030768 uc003amc.4 NM_000343 "CCDS58805|CCDS13902" P13866 "8195156|22843301" MGI:107678 RGD:3713 182380 SLC5A1 119693 objectId:915 HGNC:11036 "ENST00000266088.9|NM_000343.4" HGNC:11036 HGNC:11037 SLC5A2 solute carrier family 5 member 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 SGLT2 solute carrier family 5 (sodium/glucose cotransporter), member 2 Solute carrier family 5 2158 1993-08-24 2016-02-17 2023-01-20 6524 ENSG00000140675 OTTHUMG00000176620 uc002ecf.5 NM_003041 CCDS10714 P31639 8244402 MGI:2181411 RGD:620217 182381 SLC5A2 119697 objectId:916 HGNC:11037 "ENST00000330498.4|NM_003041.4" HGNC:11037 HGNC:11038 SLC5A3 solute carrier family 5 member 3 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "SMIT|SMIT1" "solute carrier family 5 (inositol transporter), member 3|solute carrier family 5 (sodium/myo-inositol cotransporter), member 3" Solute carrier family 5 2158 1994-02-15 2016-02-17 2023-01-20 6526 ENSG00000198743 OTTHUMG00000065821 uc002yto.4 NM_006933 CCDS33549 P53794 7789985 MGI:1858226 RGD:621530 600444 SLC5A3 objectId:924 HGNC:11038 "ENST00000381151.5|NM_006933.7" HGNC:11039 SLC5A4 solute carrier family 5 member 4 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "SAAT1|SGLT3|DJ90G24.4" "solute carrier family 5 (low affinity glucose cotransporter), member 4|solute carrier family 5 (glucose activated ion channel), member 4" Solute carrier family 5 2158 1994-02-15 2016-02-17 2023-01-20 6527 ENSG00000100191 OTTHUMG00000150007 uc003ami.4 U41897 NM_014227 CCDS13903 Q9NY91 "9501190|12354616" MGI:1927848 RGD:1306923 618633 SLC5A4 objectId:917 HGNC:11039 "ENST00000266086.6|NM_014227.3" @@ -35436,21 +35439,21 @@ HGNC:11040 SLC5A5 solute carrier family 5 member 5 protein-coding gene gene with HGNC:11041 SLC5A6 solute carrier family 5 member 6 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 SMVT Sodium-dependent multivitamin transporter "solute carrier family 5 (sodium-dependent vitamin transporter), member 6|solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6" Solute carrier family 5 2158 1999-01-19 2016-02-17 2023-01-20 8884 ENSG00000138074 OTTHUMG00000097075 uc002rjd.4 AF069307 NM_021095 CCDS1740 Q9Y289 "9516450|10329687|31754459" MGI:2660847 RGD:69648 604024 SLC5A6 objectId:921 HGNC:11041 "ENST00000310574.8|NM_021095.4" HGNC:11041 HGNC:14025 SLC5A7 solute carrier family 5 member 7 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "hCHT|CHT1|ChT" High affinity choline transporter 1 "solute carrier family 5 (choline transporter), member 7|solute carrier family 5 (sodium/choline cotransporter), member 7" Solute carrier family 5 2158 2000-11-27 2016-02-17 2023-01-20 60482 ENSG00000115665 OTTHUMG00000130959 uc002tdv.4 AF276871 NM_001305005 CCDS2074 Q9GZV3 "11027560|27569547|33250374" MGI:1927126 RGD:69270 608761 SLC5A7 320785 objectId:914 HGNC:14025 "ENST00000264047.3|NM_021815.5" HGNC:14025 HGNC:19119 SLC5A8 solute carrier family 5 member 8 protein-coding gene gene with protein product Approved 12q23.1-q23.2 12q23.1-q23.2 AIT "solute carrier family 5 (iodide transporter), member 8|solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8" Solute carrier family 5 2158 2003-05-12 2016-02-17 2023-01-20 160728 ENSG00000256870 OTTHUMG00000170499 uc001thz.5 AY081220 NM_145913 CCDS9080 Q8N695 "12107270|12829793" MGI:2384916 RGD:1564146 608044 SLC5A8 471094 objectId:922 HGNC:19119 "ENST00000536262.3|NM_145913.5" -HGNC:22146 SLC5A9 solute carrier family 5 member 9 protein-coding gene gene with protein product Approved 1p33 01p33 SGLT4 "solute carrier family 5 (sodium/glucose cotransporter), member 9|solute carrier family 5 (sodium/sugar cotransporter), member 9" Solute carrier family 5 2158 2004-03-11 2016-02-17 2023-01-20 200010 ENSG00000117834 OTTHUMG00000007959 uc001crn.3 BX648549 NM_001135181 "CCDS30709|CCDS44136" Q2M3M2 MGI:2140201 RGD:1311383 620216 SLC5A9 objectId:918 HGNC:22146 "ENST00000438567.7|NM_001011547.3" -HGNC:23155 SLC5A10 solute carrier family 5 member 10 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 SGLT5 "solute carrier family 5 (sodium/glucose cotransporter), member 10|solute carrier family 5 (sodium/sugar cotransporter), member 10" Solute carrier family 5 2158 2004-01-28 2016-02-17 2023-01-20 125206 ENSG00000154025 OTTHUMG00000178143 uc002guu.3 NM_152351 "CCDS59277|CCDS42275|CCDS11201|CCDS74008|CCDS59278" A0PJK1 MGI:1926089 RGD:1305232 618636 SLC5A10 objectId:919 HGNC:23155 "ENST00000395645.4|NM_001042450.4" -HGNC:23091 SLC5A11 solute carrier family 5 member 11 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "KST1|SMIT2|SGLT6" "solute carrier family 5 (sodium/glucose cotransporter), member 11|solute carrier family 5 (sodium/inositol cotransporter), member 11" Solute carrier family 5 2158 2004-03-23 2016-02-17 2023-01-20 115584 ENSG00000158865 OTTHUMG00000097003 uc002dmu.5 AF292385 NM_052944 "CCDS58439|CCDS58440|CCDS10625|CCDS58437|CCDS58438" Q8WWX8 "12039040|12133831" MGI:1919316 RGD:621410 610238 SLC5A11 objectId:925 HGNC:23091 "ENST00000424767.7|NM_001352248.3" +HGNC:22146 SLC5A9 solute carrier family 5 member 9 protein-coding gene gene with protein product Approved 1p33 01p33 SGLT4 "solute carrier family 5 (sodium/glucose cotransporter), member 9|solute carrier family 5 (sodium/sugar cotransporter), member 9" Solute carrier family 5 2158 2004-03-11 2016-02-17 2023-01-20 200010 ENSG00000117834 OTTHUMG00000007959 uc001crn.3 BX648549 NM_001135181 "CCDS44136|CCDS30709" Q2M3M2 MGI:2140201 RGD:1311383 620216 SLC5A9 objectId:918 HGNC:22146 "ENST00000438567.7|NM_001011547.3" +HGNC:23155 SLC5A10 solute carrier family 5 member 10 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 SGLT5 "solute carrier family 5 (sodium/glucose cotransporter), member 10|solute carrier family 5 (sodium/sugar cotransporter), member 10" Solute carrier family 5 2158 2004-01-28 2016-02-17 2023-01-20 125206 ENSG00000154025 OTTHUMG00000178143 uc002guu.3 NM_152351 "CCDS74008|CCDS59277|CCDS59278|CCDS42275|CCDS11201" A0PJK1 MGI:1926089 RGD:1305232 618636 SLC5A10 objectId:919 HGNC:23155 "ENST00000395645.4|NM_001042450.4" +HGNC:23091 SLC5A11 solute carrier family 5 member 11 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "KST1|SMIT2|SGLT6" "solute carrier family 5 (sodium/glucose cotransporter), member 11|solute carrier family 5 (sodium/inositol cotransporter), member 11" Solute carrier family 5 2158 2004-03-23 2016-02-17 2023-01-20 115584 ENSG00000158865 OTTHUMG00000097003 uc002dmu.5 AF292385 NM_052944 "CCDS58438|CCDS58437|CCDS58440|CCDS58439|CCDS10625" Q8WWX8 "12039040|12133831" MGI:1919316 RGD:621410 610238 SLC5A11 objectId:925 HGNC:23091 "ENST00000424767.7|NM_001352248.3" HGNC:28750 SLC5A12 solute carrier family 5 member 12 protein-coding gene gene with protein product Approved 11p14.2 11p14.2 "MGC52019|SMCT2" "solute carrier family 5 (sodium/glucose cotransporter), member 12|solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12" Solute carrier family 5 2158 2004-09-01 2016-02-17 2023-01-20 159963 ENSG00000148942 OTTHUMG00000150706 uc001mra.3 BC049207 NM_178498 CCDS7860 Q1EHB4 17692818 MGI:2138890 RGD:1311652 612455 SLC5A12 objectId:923 HGNC:28750 "ENST00000396005.8|NM_178498.4" -HGNC:11042 SLC6A1 solute carrier family 6 member 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "GAT1|GABATR|GABATHG|GAT-1|hGAT-1" "GABA transporter 1|Sodium- and chloride-dependent GABA transporter 1" "solute carrier family 6 (neurotransmitter transporter, GABA), member 1|solute carrier family 6 (neurotransmitter transporter), member 1" Solute carrier family 6 2159 1994-02-16 2016-02-17 2023-01-20 6529 ENSG00000157103 OTTHUMG00000044208 uc010hdq.4 NM_003042 "CCDS2603|CCDS87044|CCDS87043" P30531 "8530094|33241211" MGI:95627 RGD:620533 137165 SLC6A1 431886 objectId:929 HGNC:11042 "ENST00000287766.10|NM_003042.4" HGNC:11042 +HGNC:11042 SLC6A1 solute carrier family 6 member 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "GAT1|GABATR|GABATHG|GAT-1|hGAT-1" "GABA transporter 1|Sodium- and chloride-dependent GABA transporter 1" "solute carrier family 6 (neurotransmitter transporter, GABA), member 1|solute carrier family 6 (neurotransmitter transporter), member 1" Solute carrier family 6 2159 1994-02-16 2016-02-17 2023-01-20 6529 ENSG00000157103 OTTHUMG00000044208 uc010hdq.4 NM_003042 "CCDS2603|CCDS87043|CCDS87044" P30531 "8530094|33241211" MGI:95627 RGD:620533 137165 SLC6A1 431886 objectId:929 HGNC:11042 "ENST00000287766.10|NM_003042.4" HGNC:11042 HGNC:40546 SLC6A1-AS1 SLC6A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SLC6A1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874090 ENSG00000232287 OTTHUMG00000155456 uc031ryk.1 NR_046647 SLC6A1-AS1 HGNC:40546 HGNC:11048 SLC6A2 solute carrier family 6 member 2 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 NET norepinephrine transporter "NET1|NAT1|SLC6A5" "solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2|solute carrier family 6 (neurotransmitter transporter), member 2" Solute carrier family 6 2159 1994-03-16 2016-02-17 2023-01-20 6530 ENSG00000103546 OTTHUMG00000133208 uc002eig.3 NM_001043 "CCDS58463|CCDS54011|CCDS10754" P23975 2008212 MGI:1270850 RGD:621822 163970 SLC6A2 449814 objectId:926 HGNC:11048 "ENST00000568943.6|NM_001172501.3" HGNC:11048 HGNC:11049 SLC6A3 solute carrier family 6 member 3 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 DAT "dopamine transporter|Sodium-dependent dopamine transporter" DAT1 "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3|dopamine transporter 1|solute carrier family 6 (neurotransmitter transporter), member 3" Solute carrier family 6 2159 1994-03-16 2016-02-17 2023-01-20 6531 ENSG00000142319 OTTHUMG00000131016 uc003jck.4 NM_001044 CCDS3863 Q01959 1406597 MGI:94862 RGD:3715 LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SLC6A3 126455 SLC6A3 244693 objectId:927 HGNC:11049 "ENST00000270349.12|NM_001044.5" HGNC:11049 HGNC:11050 SLC6A4 solute carrier family 6 member 4 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "5-HTT|SERT1" serotonin transporter 1 "HTT|OCD1" "solute carrier family 6 (neurotransmitter transporter, serotonin), member 4|5-hydroxytryptamine (serotonin) transporter|obsessive-compulsive disorder 1|solute carrier family 6 (neurotransmitter transporter), member 4" Solute carrier family 6 2159 1994-03-16 2016-02-17 2023-01-20 6532 ENSG00000108576 OTTHUMG00000132751 uc060dmn.1 L05568 NM_001045 CCDS11256 P31645 "7681602|19806148" MGI:96285 RGD:3714 182138 SLC6A4 471098 objectId:928 HGNC:11050 "ENST00000650711.1|NM_001045.6" HGNC:11050 HGNC:11051 SLC6A5 solute carrier family 6 member 5 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "GLYT2|GlyT-2" "glycine transporter 2|Sodium- and chloride-dependent glycine transporter 2" NET1 "solute carrier family 6 (neurotransmitter transporter, glycine), member 5|solute carrier family 6 (neurotransmitter transporter), member 5|norepinephrine transporter 1" Solute carrier family 6 2159 1997-12-05 2016-02-17 2023-01-20 9152 ENSG00000165970 OTTHUMG00000166024 uc001mqd.4 AF085412 NM_004211 CCDS7854 Q9Y345 "9845349|16751771" MGI:105090 RGD:621824 LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SLC6A5 604159 SLC6A5 158412 objectId:936 HGNC:11051 "ENST00000525748.6|NM_004211.5" HGNC:11051 -HGNC:11052 SLC6A6 solute carrier family 6 member 6 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 TAUT taurine transporter "solute carrier family 6 (neurotransmitter transporter, taurine), member 6|solute carrier family 6 (neurotransmitter transporter), member 6" Solute carrier family 6 2159 1994-05-25 2016-02-17 2023-01-20 6533 ENSG00000131389 OTTHUMG00000155525 uc032rfg.2 NM_003043 "CCDS46765|CCDS33705|CCDS77704" P31641 "8010975|8382624" MGI:98488 RGD:61912 186854 SLC6A6 objectId:933 HGNC:11052 "ENST00000622186.5|NM_003043.6" +HGNC:11052 SLC6A6 solute carrier family 6 member 6 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 TAUT taurine transporter "solute carrier family 6 (neurotransmitter transporter, taurine), member 6|solute carrier family 6 (neurotransmitter transporter), member 6" Solute carrier family 6 2159 1994-05-25 2016-02-17 2023-01-20 6533 ENSG00000131389 OTTHUMG00000155525 uc032rfg.2 NM_003043 "CCDS77704|CCDS33705|CCDS46765" P31641 "8010975|8382624" MGI:98488 RGD:61912 186854 SLC6A6 objectId:933 HGNC:11052 "ENST00000622186.5|NM_003043.6" HGNC:11053 SLC6A6P1 solute carrier family 6 member 6 pseudogene 1 pseudogene pseudogene Approved 21q21.1 21q21.1 SLC6A6P "solute carrier family 6, member 6 pseudogene|solute carrier family 6, member 6 pseudogene 1" 2000-05-23 2010-02-24 2015-12-04 2015-12-04 54019 ENSG00000226818 OTTHUMG00000074547 NG_000901 SLC6A6P1 PGOHUM00000239149 HGNC:11053 HGNC:11054 SLC6A7 solute carrier family 6 member 7 protein-coding gene gene with protein product Approved 5q32 05q32 PROT "brain-specific L-proline transporter|sodium-dependent proline transporter" "solute carrier family 6 (neurotransmitter transporter, L-proline), member 7|solute carrier family 6 (neurotransmitter transporter), member 7" Solute carrier family 6 2159 1994-03-16 2016-02-17 2023-01-20 6534 ENSG00000011083 OTTHUMG00000130046 uc003lrr.3 S80071 NM_014228 CCDS4305 Q99884 7651355 MGI:2147363 RGD:620928 606205 SLC6A7 objectId:938 HGNC:11054 "ENST00000230671.7|NM_014228.5" -HGNC:11055 SLC6A8 solute carrier family 6 member 8 protein-coding gene gene with protein product Approved Xq28 Xq28 "CRTR|CT1|CRT|CRT-1|CRT1" "creatine transporter|Sodium- and chloride-dependent creatine transporter 1" "solute carrier family 6 (neurotransmitter transporter, creatine), member 8|solute carrier family 6 (neurotransmitter transporter), member 8" Solute carrier family 6 2159 1994-12-19 2016-02-17 2023-01-20 6535 ENSG00000130821 OTTHUMG00000024208 uc004fib.4 NM_001142805 "CCDS14726|CCDS48190" P48029 "7774949|16086185" MGI:2147834 RGD:619711 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC6A8|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC6A8" 300036 SLC6A8 119705 objectId:934 HGNC:11055 "ENST00000253122.10|NM_005629.4" HGNC:11055 -HGNC:11056 SLC6A9 solute carrier family 6 member 9 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "GLYT1|GlyT-1" Sodium- and chloride-dependent glycine transporter 1 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 Solute carrier family 6 2159 1995-10-02 2016-02-17 2023-01-20 6536 ENSG00000196517 OTTHUMG00000008294 uc001cln.5 S70609 NM_201649 "CCDS30695|CCDS41317|CCDS85966|CCDS41316" P48067 "8183239|7587377" MGI:95760 RGD:621243 601019 SLC6A9 objectId:935 HGNC:11056 "ENST00000372310.8|NM_001024845.3" HGNC:11056 +HGNC:11055 SLC6A8 solute carrier family 6 member 8 protein-coding gene gene with protein product Approved Xq28 Xq28 "CRTR|CT1|CRT|CRT-1|CRT1" "creatine transporter|Sodium- and chloride-dependent creatine transporter 1" "solute carrier family 6 (neurotransmitter transporter, creatine), member 8|solute carrier family 6 (neurotransmitter transporter), member 8" Solute carrier family 6 2159 1994-12-19 2016-02-17 2023-01-20 6535 ENSG00000130821 OTTHUMG00000024208 uc004fib.4 NM_001142805 "CCDS48190|CCDS14726" P48029 "7774949|16086185" MGI:2147834 RGD:619711 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC6A8|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC6A8" 300036 SLC6A8 119705 objectId:934 HGNC:11055 "ENST00000253122.10|NM_005629.4" HGNC:11055 +HGNC:11056 SLC6A9 solute carrier family 6 member 9 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "GLYT1|GlyT-1" Sodium- and chloride-dependent glycine transporter 1 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 Solute carrier family 6 2159 1995-10-02 2016-02-17 2023-01-20 6536 ENSG00000196517 OTTHUMG00000008294 uc001cln.5 S70609 NM_201649 "CCDS30695|CCDS41316|CCDS41317|CCDS85966" P48067 "8183239|7587377" MGI:95760 RGD:621243 601019 SLC6A9 objectId:935 HGNC:11056 "ENST00000372310.8|NM_001024845.3" HGNC:11056 HGNC:11043 SLC6A10P solute carrier family 6 member 10, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 CT-2 creatine transporter-2 SLC6A10 "solute carrier family 6 (neurotransmitter transporter, creatine), member 10|solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene" Solute carrier family 6 2159 1996-03-14 2013-07-19 2016-02-17 2023-03-15 386757 ENSG00000214617 OTTHUMG00000132481 U41163 NR_003083 9154116 SLC6A10P PGOHUM00000262930 HGNC:11043 HGNC:11044 SLC6A11 solute carrier family 6 member 11 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 GAT3 GABA transporter 3 "solute carrier family 6 (neurotransmitter transporter, GABA), member 11|solute carrier family 6 (neurotransmitter transporter), member 11" Solute carrier family 6 2159 1997-12-05 2016-02-17 2023-01-20 6538 ENSG00000132164 OTTHUMG00000129718 uc003bvz.4 S75989 NM_014229 "CCDS82734|CCDS2602" P48066 7874447 MGI:95630 RGD:628737 607952 SLC6A11 objectId:931 HGNC:11044 "ENST00000254488.7|NM_014229.3" HGNC:11045 SLC6A12 solute carrier family 6 member 12 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 BGT-1 betaine/GABA transporter-1 "solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12|solute carrier family 6 (neurotransmitter transporter), member 12" Solute carrier family 6 2159 1997-12-09 2016-02-17 2023-01-20 6539 ENSG00000111181 OTTHUMG00000090309 uc001qia.3 L42300 NM_003044 CCDS8501 P48065 7589472 MGI:95628 RGD:620255 603080 SLC6A12 objectId:932 HGNC:11045 "ENST00000684302.1|NM_001122848.3" @@ -35460,16 +35463,16 @@ HGNC:11047 SLC6A14 solute carrier family 6 member 14 protein-coding gene gene wi HGNC:54529 SLC6A14P1 SLC6A14 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2019-10-11 2019-10-11 100422432 ENSG00000236077 NG_026753 HGNC:54529 HGNC:54530 SLC6A14P2 SLC6A14 pseudogene 2 pseudogene pseudogene Approved Xq23 Xq23 2019-10-11 2019-10-11 100462652 ENSG00000237860 NG_021283 HGNC:54530 HGNC:54531 SLC6A14P3 SLC6A14 pseudogene 3 pseudogene pseudogene Approved 2q14.3 02q14.3 2019-10-11 2019-10-11 100422417 ENSG00000236655 NG_023602 HGNC:54531 -HGNC:13621 SLC6A15 solute carrier family 6 member 15 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "hv7-3|NTT73|FLJ10316|V7-3|SBAT1" "homolog of rat orphan transporter v7-3|sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7" "solute carrier family 6 (neurotransmitter transporter), member 15|solute carrier family 6 (neutral amino acid transporter), member 15" Solute carrier family 6 2159 2000-09-27 2016-02-17 2023-01-20 55117 ENSG00000072041 OTTHUMG00000169742 uc001szv.5 AF265577 "NM_018057|NM_182767" "CCDS53816|CCDS9026|CCDS9027" Q9H2J7 "10471414|11112352|16185194" MGI:2143484 RGD:628664 607971 SLC6A15 objectId:940 HGNC:13621 "ENST00000266682.10|NM_182767.6" +HGNC:13621 SLC6A15 solute carrier family 6 member 15 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "hv7-3|NTT73|FLJ10316|V7-3|SBAT1" "homolog of rat orphan transporter v7-3|sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7" "solute carrier family 6 (neurotransmitter transporter), member 15|solute carrier family 6 (neutral amino acid transporter), member 15" Solute carrier family 6 2159 2000-09-27 2016-02-17 2023-01-20 55117 ENSG00000072041 OTTHUMG00000169742 uc001szv.5 AF265577 "NM_018057|NM_182767" "CCDS9027|CCDS53816|CCDS9026" Q9H2J7 "10471414|11112352|16185194" MGI:2143484 RGD:628664 607971 SLC6A15 objectId:940 HGNC:13621 "ENST00000266682.10|NM_182767.6" HGNC:13622 SLC6A16 solute carrier family 6 member 16 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 NTT5 NTT5 protein "solute carrier family 6 (neurotransmitter transporter), member 16|solute carrier family 6, member 16" "MicroRNA protein coding host genes|Solute carrier family 6" "1691|2159" 2000-09-27 2015-12-04 2023-01-20 28968 ENSG00000063127 OTTHUMG00000183179 uc002pmz.4 AF265578 NM_014037 CCDS42590 Q9GZN6 "10471414|11112352" MGI:2685930 RGD:1561338 607972 SLC6A16 objectId:942 HGNC:13622 "ENST00000335875.9|NM_014037.3" HGNC:31399 SLC6A17 solute carrier family 6 member 17 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 NTT4 "Sodium-dependent neutral amino acid transporter SLC6A17|neurotransmitter transporter 4" "solute carrier family 6 (neurotransmitter transporter), member 17|solute carrier family 6, member 17|solute carrier family 6 (neutral amino acid transporter), member 17" Solute carrier family 6 2159 2004-04-02 2016-02-17 2023-01-20 388662 ENSG00000197106 OTTHUMG00000011761 uc009wfq.4 NM_001010898 CCDS30799 Q9H1V8 "19147495|25704603" MGI:2442535 RGD:1587185 610299 SLC6A17 423450 objectId:943 HGNC:31399 "ENST00000331565.5|NM_001010898.4" HGNC:31399 HGNC:41279 SLC6A17-AS1 SLC6A17 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Antisense RNAs 1987 2020-03-26 2020-03-26 105378897 ENSG00000227091 OTTHUMG00000011762 NR_183667 HGNC:26441 SLC6A18 solute carrier family 6 member 18 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FLJ31236|Xtrp2" "solute carrier family 6 (neurotransmitter transporter), member 18|solute carrier family 6, member 18|solute carrier family 6 (neutral amino acid transporter), member 18" Solute carrier family 6 2159 2004-04-02 2016-02-17 2023-01-20 348932 ENSG00000164363 OTTHUMG00000090356 uc003jby.2 AK055798 NM_182632 CCDS3860 Q96N87 19478081 MGI:1336892 RGD:69352 610300 SLC6A18 173509 objectId:941 HGNC:26441 "ENST00000324642.4|NM_182632.3" HGNC:27960 SLC6A19 solute carrier family 6 member 19 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 B0AT1 "Hartnup disease|Sodium-dependent neutral amino acid transporter B(0)AT1|broad neutral amino acid transporter 1" solute carrier family 6 (neutral amino acid transporter), member 19 Solute carrier family 6 2159 2004-04-02 2016-02-17 2023-01-20 340024 ENSG00000174358 OTTHUMG00000161636 uc003jbw.5 AK096054 NM_001003841 CCDS34130 Q695T7 15286787 MGI:1921588 RGD:1594328 608893 SLC6A19 119703 objectId:939 HGNC:27960 "ENST00000304460.11|NM_001003841.3" HGNC:27960 -HGNC:30927 SLC6A20 solute carrier family 6 member 20 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "XT3|Xtrp3|SIT1|IMINO" sodium-dependent imino acid transporter 1 solute carrier family 6 (proline IMINO transporter), member 20 Solute carrier family 6 2159 2004-04-02 2016-02-17 2023-01-20 54716 ENSG00000163817 OTTHUMG00000133446 uc011bai.3 AF075260 NM_020208 "CCDS2730|CCDS43077|CCDS93258" Q9NP91 "9932288|11352561" "MGI:1336891|MGI:2143217" RGD:621651 605616 SLC6A20 173505 objectId:944 HGNC:30927 "ENST00000358525.9|NM_020208.4" HGNC:30927 +HGNC:30927 SLC6A20 solute carrier family 6 member 20 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "XT3|Xtrp3|SIT1|IMINO" sodium-dependent imino acid transporter 1 solute carrier family 6 (proline IMINO transporter), member 20 Solute carrier family 6 2159 2004-04-02 2016-02-17 2023-01-20 54716 ENSG00000163817 OTTHUMG00000133446 uc011bai.3 AF075260 NM_020208 "CCDS2730|CCDS93258|CCDS43077" Q9NP91 "9932288|11352561" "MGI:1336891|MGI:2143217" RGD:621651 605616 SLC6A20 173505 objectId:944 HGNC:30927 "ENST00000358525.9|NM_020208.4" HGNC:30927 HGNC:31400 SLC6A21P solute carrier family 6 member 21, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 SLC6A21 "solute carrier family 6 (neurotransmitter transporter), member 21|solute carrier family 6 (neurotransmitter transporter), member 21, pseudogene|solute carrier family 6, member 21, pseudogene" Solute carrier family 6 2159 2005-12-07 2006-05-10 2015-12-04 2016-07-25 652969 ENSG00000269009 OTTHUMG00000183204 AC008891.7 NG_009578 16125675 MGI:1923963 RGD:1562492 SLC6A21P PGOHUM00000295061 HGNC:31400 HGNC:11057 SLC7A1 solute carrier family 7 member 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "CAT-1|HCAT1|REC1L" "ecotropic retroviral receptor|amino acid transporter, cationic 1" "ERR|ATRC1" solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 Solute carrier family 7 2160 1994-02-16 2016-02-17 2023-01-20 6541 ENSG00000139514 OTTHUMG00000016658 uc001uso.4 AF078107 NM_003045 CCDS9333 P30825 1348489 MGI:88117 RGD:3716 104615 SLC7A1 471100 objectId:891 HGNC:11057 "ENST00000380752.10|NM_003045.5" -HGNC:11060 SLC7A2 solute carrier family 7 member 2 protein-coding gene gene with protein product Approved 8p22 08p22 "CAT-2|HCAT2" ATRC2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 Solute carrier family 7 2160 1996-11-15 2016-02-17 2023-01-20 6542 ENSG00000003989 OTTHUMG00000130819 uc064kns.1 D29990 NM_003046 "CCDS94262|CCDS55203|CCDS34852|CCDS6002" P52569 8954799 MGI:99828 RGD:68387 601872 SLC7A2 objectId:892 HGNC:11060 "ENST00000494857.6|NM_001370338.1" +HGNC:11060 SLC7A2 solute carrier family 7 member 2 protein-coding gene gene with protein product Approved 8p22 08p22 "CAT-2|HCAT2" ATRC2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 Solute carrier family 7 2160 1996-11-15 2016-02-17 2023-01-20 6542 ENSG00000003989 OTTHUMG00000130819 uc064kns.1 D29990 NM_003046 "CCDS94262|CCDS34852|CCDS55203|CCDS6002" P52569 8954799 MGI:99828 RGD:68387 601872 SLC7A2 objectId:892 HGNC:11060 "ENST00000494857.6|NM_001370338.1" HGNC:54925 SLC7A2-IT1 SLC7A2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 8p22 08p22 Intronic transcripts 1989 2020-04-29 2020-04-29 ENSG00000279903 AV720089 22411793 HGNC:11061 SLC7A3 solute carrier family 7 member 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "CAT-3|ATRC3|FLJ14541" solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 Solute carrier family 7 2160 1997-12-10 2016-02-17 2023-01-20 84889 ENSG00000165349 OTTHUMG00000021780 uc004dyo.4 AF320612 NM_032803 CCDS14404 Q8WY07 11591158 MGI:1100521 RGD:68342 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC7A3 300443 SLC7A3 objectId:893 HGNC:11061 "ENST00000374299.8|NM_032803.6" HGNC:11061 HGNC:11062 SLC7A4 solute carrier family 7 member 4 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "HCAT3|CAT-4" "solute carrier family 7 (cationic amino acid transporter, y+ system), member 4|solute carrier family 7 (orphan transporter), member 4|solute carrier family 7, member 4" Solute carrier family 7 2160 1997-12-09 2015-12-08 2023-04-12 6545 ENSG00000099960 OTTHUMG00000150896 uc002zud.3 AJ000730 NM_004173 CCDS33608 O43246 "9598310|11665818" MGI:2146512 RGD:1305905 603752 SLC7A4 objectId:894 HGNC:11062 "ENST00000382932.3|NM_004173.3" @@ -35479,7 +35482,7 @@ HGNC:24951 SLC7A5P2 solute carrier family 7 member 5 pseudogene 2 pseudogene pse HGNC:11064 SLC7A6 solute carrier family 7 member 6 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "y+LAT-2|KIAA0245|LAT3|LAT-2" solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 Solute carrier family 7 2160 1999-01-28 2016-02-17 2023-01-20 9057 ENSG00000103064 OTTHUMG00000176544 uc002evu.3 D87432 NM_003983 CCDS32470 Q92536 9878049 MGI:2142598 RGD:1309193 605641 SLC7A6 objectId:899 HGNC:11064 "ENST00000219343.11|NM_003983.6" HGNC:25807 SLC7A6OS solute carrier family 7 member 6 opposite strand protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ13291|Iwr1" solute carrier family 7, member 6 opposite strand 2005-09-01 2015-12-08 2023-01-20 84138 ENSG00000103061 OTTHUMG00000137558 uc002evw.3 NM_032178 CCDS10865 Q96CW6 25803583 MGI:1916951 RGD:708394 619192 HGNC:25807 "ENST00000263997.11|NM_032178.3" HGNC:25807 HGNC:11065 SLC7A7 solute carrier family 7 member 7 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "y+LAT-1|Y+LAT1" Y+L amino acid transporter 1 LPI "solute carrier family 7 (amino acid transporter light chain, y+L system), member 7|lysinuric protein intolerance (dibasicaminoaciduria II)" Solute carrier family 7 2160 1999-01-28 2016-02-17 2023-01-20 9056 ENSG00000155465 OTTHUMG00000028692 uc001wgu.5 AF092032 NM_003982 CCDS9574 Q9UM01 "9829974|17764084" MGI:1337120 RGD:619902 LRG_695|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_695.xml 603593 SLC7A7 119709 objectId:898 HGNC:11065 "ENST00000674313.1|NM_003982.4" HGNC:11065 -HGNC:11066 SLC7A8 solute carrier family 7 member 8 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "LPI-PC1|LAT2" solute carrier family 7 (amino acid transporter light chain, L system), member 8 Solute carrier family 7 2160 1999-10-05 2016-02-17 2023-01-20 23428 ENSG00000092068 OTTHUMG00000028720 uc001wiz.5 Y18483 NM_001267036 "CCDS9590|CCDS58304|CCDS41924|CCDS58305" Q9UHI5 "10080183|10391915" MGI:1355323 RGD:619904 604235 SLC7A8 objectId:897 HGNC:11066 "ENST00000316902.12|NM_012244.4" +HGNC:11066 SLC7A8 solute carrier family 7 member 8 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "LPI-PC1|LAT2" solute carrier family 7 (amino acid transporter light chain, L system), member 8 Solute carrier family 7 2160 1999-10-05 2016-02-17 2023-01-20 23428 ENSG00000092068 OTTHUMG00000028720 uc001wiz.5 Y18483 NM_001267036 "CCDS58304|CCDS58305|CCDS41924|CCDS9590" Q9UHI5 "10080183|10391915" MGI:1355323 RGD:619904 604235 SLC7A8 objectId:897 HGNC:11066 "ENST00000316902.12|NM_012244.4" HGNC:11067 SLC7A9 solute carrier family 7 member 9 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 BAT1 b(0,+)-type amino acid transporter 1 CSNU3 "solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9|cystinuria type 3" Solute carrier family 7 2160 1999-09-16 2016-02-17 2023-01-20 11136 ENSG00000021488 OTTHUMG00000180287 uc002ntu.6 AF141289 NM_001126335 CCDS12425 P82251 10471498 MGI:1353656 RGD:619905 604144 SLC7A9 119713 objectId:900 HGNC:11067 "ENST00000023064.9|NM_014270.5" HGNC:11067 HGNC:11058 SLC7A10 solute carrier family 7 member 10 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 asc-1 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 Solute carrier family 7 2160 2000-06-02 2016-02-17 2023-01-20 56301 ENSG00000130876 OTTHUMG00000180344 uc002num.2 AB037670 NM_019849 CCDS12431 Q9NS82 "10734121|10863037" MGI:1858261 RGD:621672 607959 SLC7A10 471102 objectId:901 HGNC:11058 "ENST00000253188.8|NM_019849.3" HGNC:11059 SLC7A11 solute carrier family 7 member 11 protein-coding gene gene with protein product Approved 4q28.3 04q28.3 xCT solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 Solute carrier family 7 2160 2000-06-02 2016-02-17 2023-01-20 23657 ENSG00000151012 OTTHUMG00000133396 uc062zqn.1 AB026891 NM_014331 CCDS3742 Q9UPY5 "10206947|12763038" MGI:1347355 RGD:1309275 607933 SLC7A11 objectId:902 HGNC:11059 "ENST00000280612.9|NM_014331.4" @@ -35488,14 +35491,14 @@ HGNC:23092 SLC7A13 solute carrier family 7 member 13 protein-coding gene gene wi HGNC:29326 SLC7A14 solute carrier family 7 member 14 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "KIAA1613|PPP1R142" protein phosphatase 1, regulatory subunit 142 solute carrier family 7, member 14 "Protein phosphatase 1 regulatory subunits|Solute carrier family 7" "694|2160" 2005-06-06 2015-12-08 2023-01-20 57709 ENSG00000013293 OTTHUMG00000158941 uc003fgz.3 BC022968 NM_020949 CCDS33892 Q8TBB6 MGI:3040688 RGD:1594375 615720 SLC7A14 401123 objectId:895 HGNC:29326 "ENST00000231706.6|NM_020949.3" HGNC:29326 HGNC:54092 SLC7A14-AS1 SLC7A14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.2 03q26.2 Antisense RNAs 1987 2018-11-04 2018-11-04 101928583 ENSG00000285051 NR_135555 HGNC:54092 HGNC:32724 SLC7A15P solute carrier family 7 member 15, pseudogene pseudogene pseudogene Approved 2p24.1 02p24.1 solute carrier family 7, member 15, pseudogene Solute carrier family 7 2160 2010-03-12 2015-12-08 2020-08-14 100289450 ENSG00000232800 OTTHUMG00000154621 NG_012112 20210993 MGI:3045351 SLC7A15P HGNC:32724 -HGNC:11068 SLC8A1 solute carrier family 8 member A1 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 Na+/Ca++ exchanger NCX1 solute carrier family 8 (sodium/calcium exchanger), member 1 Solute carrier family 8 2161 1991-10-04 2016-02-25 2023-01-20 6546 ENSG00000183023 OTTHUMG00000102183 uc061inr.1 NM_021097 "CCDS92742|CCDS92744|CCDS46265|CCDS92745|CCDS59430|CCDS46264|CCDS92743|CCDS92746|CCDS1806" P32418 1559714 MGI:107956 RGD:3717 182305 SLC8A1 471106 objectId:945 HGNC:11068 "ENST00000332839.9|NM_021097.5" +HGNC:11068 SLC8A1 solute carrier family 8 member A1 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 Na+/Ca++ exchanger NCX1 solute carrier family 8 (sodium/calcium exchanger), member 1 Solute carrier family 8 2161 1991-10-04 2016-02-25 2023-01-20 6546 ENSG00000183023 OTTHUMG00000102183 uc061inr.1 NM_021097 "CCDS92743|CCDS92745|CCDS59430|CCDS92744|CCDS1806|CCDS92746|CCDS46265|CCDS92742|CCDS46264" P32418 1559714 MGI:107956 RGD:3717 182305 SLC8A1 471106 objectId:945 HGNC:11068 "ENST00000332839.9|NM_021097.5" HGNC:44102 SLC8A1-AS1 SLC8A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p22.1 02p22.1 SLC8A1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2012-10-12 100128590 ENSG00000227028 OTTHUMG00000152308 uc061inb.1 NR_038441 SLC8A1-AS1 HGNC:44102 HGNC:11069 SLC8A2 solute carrier family 8 member A2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "NCX2|KIAA1087" solute carrier family 8 (sodium/calcium exchanger), member 2 Solute carrier family 8 2161 1994-12-09 2016-02-25 2023-01-20 6543 ENSG00000118160 OTTHUMG00000183529 uc002pgx.4 AB029010 NM_015063 CCDS33065 Q9UPR5 8021246 MGI:107996 RGD:620194 601901 SLC8A2 objectId:946 HGNC:11069 "ENST00000236877.11|NM_015063.3" -HGNC:11070 SLC8A3 solute carrier family 8 member A3 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 NCX3 solute carrier family 8 (sodium/calcium exchanger), member 3 Solute carrier family 8 2161 1997-12-09 2016-02-25 2023-03-15 6547 ENSG00000100678 OTTHUMG00000152342 uc001xlz.3 AJ304852 NM_001130417 "CCDS41967|CCDS9799|CCDS9800|CCDS35498|CCDS45131|CCDS53904" P57103 8798769 MGI:107976 RGD:620197 607991 SLC8A3 objectId:947 HGNC:11070 "ENST00000356921.7|NM_182932.3" +HGNC:11070 SLC8A3 solute carrier family 8 member A3 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 NCX3 solute carrier family 8 (sodium/calcium exchanger), member 3 Solute carrier family 8 2161 1997-12-09 2016-02-25 2023-03-15 6547 ENSG00000100678 OTTHUMG00000152342 uc001xlz.3 AJ304852 NM_001130417 "CCDS9799|CCDS35498|CCDS9800|CCDS53904|CCDS45131|CCDS41967" P57103 8798769 MGI:107976 RGD:620197 607991 SLC8A3 objectId:947 HGNC:11070 "ENST00000356921.7|NM_182932.3" HGNC:26175 SLC8B1 solute carrier family 8 member B1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "FLJ22233|NCKX6|NCLX" SLC24A6 "solute carrier family 24 (sodium/potassium/calcium exchanger), member 6|solute carrier family 24 (sodium/lithium/calcium exchanger), member 6|solute carrier family 8 (sodium/lithium/calcium exchanger), member B1" Solute carrier family 8 2161 2004-05-05 2013-07-19 2016-02-17 2023-03-13 80024 ENSG00000089060 OTTHUMG00000169566 AK025886 NM_024959 "CCDS81744|CCDS31909" Q6J4K2 "14625281|23506867" MGI:2180781 RGD:1565818 609841 SLC8B1 objectId:1050 HGNC:26175 "ENST00000680972.1|NM_001358345.2" HGNC:11071 SLC9A1 solute carrier family 9 member A1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 PPP1R143 "protein phosphatase 1, regulatory subunit 143|Sodium/hydrogen exchanger 1" "APNH|NHE1|NHE-1" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)|solute carrier family 9 (sodium/hydrogen exchanger), member 1|solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1" "Protein phosphatase 1 regulatory subunits|Solute carrier family 9" "694|2162" 1986-01-01 2016-02-25 2023-01-20 6548 ENSG00000090020 OTTHUMG00000004271 uc001bnm.5 M81768 NM_003047 CCDS295 P19634 "8283968|25205112" MGI:102462 RGD:3718 107310 SLC9A1 457065 objectId:948 HGNC:11071 "ENST00000263980.8|NM_003047.5" HGNC:11071 HGNC:11072 SLC9A2 solute carrier family 9 member A2 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 NHE2 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 2|solute carrier family 9 (sodium/hydrogen exchanger), member 2|solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2" Solute carrier family 9 2162 1992-06-12 2016-02-25 2023-01-20 6549 ENSG00000115616 OTTHUMG00000130778 uc002tca.4 NM_003048 CCDS2062 Q9UBY0 MGI:105075 RGD:3719 600530 SLC9A2 objectId:949 HGNC:11072 "ENST00000233969.3|NM_003048.6" -HGNC:11073 SLC9A3 solute carrier family 9 member A3 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 NHE-3 Sodium/hydrogen exchanger 3 NHE3 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3|solute carrier family 9 (sodium/hydrogen exchanger), member 3|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3" Solute carrier family 9 2162 1992-06-12 2016-02-25 2023-01-20 6550 ENSG00000066230 OTTHUMG00000090315 uc003jbe.3 NM_004174 "CCDS64116|CCDS3855" P48764 "8096830|31276831" MGI:105064 RGD:3720 182307 SLC9A3 456093 objectId:950 HGNC:11073 "ENST00000264938.8|NM_004174.4" HGNC:11073 +HGNC:11073 SLC9A3 solute carrier family 9 member A3 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 NHE-3 Sodium/hydrogen exchanger 3 NHE3 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3|solute carrier family 9 (sodium/hydrogen exchanger), member 3|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3" Solute carrier family 9 2162 1992-06-12 2016-02-25 2023-01-20 6550 ENSG00000066230 OTTHUMG00000090315 uc003jbe.3 NM_004174 "CCDS3855|CCDS64116" P48764 "8096830|31276831" MGI:105064 RGD:3720 182307 SLC9A3 456093 objectId:950 HGNC:11073 "ENST00000264938.8|NM_004174.4" HGNC:11073 HGNC:40550 SLC9A3-AS1 SLC9A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 UC011CLY.2 Antisense RNAs 1987 2017-02-16 2017-02-16 100288152 ENSG00000225138 OTTHUMG00000167373 NR_125375 28076325 HGNC:40550 HGNC:24524 SLC9A3-OT1 SLC9A3 3' UTR overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 PP7080 Overlapping transcripts 1988 2023-02-07 2023-02-07 25845 ENSG00000188242 OTTHUMG00000162206 NR_024158 33844396 HGNC:11074 SLC9A3P1 solute carrier family 9 member 3 pseudogene 1 pseudogene pseudogene Approved 10q11.23 10q11.23 "NHE3P|SLC9A3P|SLC9A3P4" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 pseudogene|solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene|solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 1|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 4|solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 4|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 1" 1996-03-13 2010-02-24 2016-02-17 2016-02-17 6551 ENSG00000233011 OTTHUMG00000018226 NG_006095 "8833252|8199403" SLC9A3P1 PGOHUM00000290157 HGNC:11074 @@ -35504,21 +35507,21 @@ HGNC:33492 SLC9A3P3 solute carrier family 9 member 3 pseudogene 3 pseudogene pse HGNC:55322 SLC9A3R1-AS1 SLC9A3R1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 Antisense RNAs 1987 2020-10-21 2020-10-21 105371893 ENSG00000266036 XR_934976 HGNC:11077 SLC9A4 solute carrier family 9 member A4 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 NHE4 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 4|solute carrier family 9 (sodium/hydrogen exchanger), member 4|solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4" Solute carrier family 9 2162 1994-05-25 2016-02-25 2023-01-20 389015 ENSG00000180251 OTTHUMG00000153093 uc002tbz.4 NM_001011552.3 CCDS33264 Q6AI14 8199403 MGI:105074 RGD:3721 600531 SLC9A4 objectId:951 HGNC:11077 "ENST00000295269.5|NM_001011552.4" HGNC:11078 SLC9A5 solute carrier family 9 member A5 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 NHE5 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 5|solute carrier family 9 (sodium/hydrogen exchanger), member 5|solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5" Solute carrier family 9 2162 1994-07-21 2016-02-25 2023-01-20 6553 ENSG00000135740 OTTHUMG00000172935 uc002esm.4 NM_001323971 CCDS42178 Q14940 "7759094|9933642" MGI:2685542 RGD:620473 600477 SLC9A5 objectId:952 HGNC:11078 "ENST00000299798.16|NM_004594.3" -HGNC:11079 SLC9A6 solute carrier family 9 member A6 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "NHE6|KIAA0267|NHE-6" Sodium/hydrogen exchanger 6 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 6|solute carrier family 9 (sodium/hydrogen exchanger), member 6|solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6" Solute carrier family 9 2162 1999-07-30 2016-02-25 2023-01-20 10479 ENSG00000198689 OTTHUMG00000022498 uc004ezk.4 AF030409 NM_006359 "CCDS14654|CCDS83492|CCDS94676|CCDS44003|CCDS55504" Q92581 "9507001|27142213" MGI:2443511 RGD:1563582 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC9A6 300231 SLC9A6 158415 objectId:953 HGNC:11079 "ENST00000630721.3|NM_001379110.1" HGNC:11079 -HGNC:17123 SLC9A7 solute carrier family 9 member A7 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "NHE7|NHE-7" Sodium/hydrogen exchanger 7 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 7|solute carrier family 9 (sodium/hydrogen exchanger), member 7|solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7" Solute carrier family 9 2162 2001-11-02 2016-02-25 2023-01-20 84679 ENSG00000065923 OTTHUMG00000021428 uc004dgu.3 AF298591 NM_032591 "CCDS75967|CCDS14269" Q96T83 "11279194|30335141" MGI:2444530 RGD:1561385 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC9A7 300368 SLC9A7 objectId:954 HGNC:17123 "ENST00000616978.5|NM_001257291.2" HGNC:17123 +HGNC:11079 SLC9A6 solute carrier family 9 member A6 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "NHE6|KIAA0267|NHE-6" Sodium/hydrogen exchanger 6 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 6|solute carrier family 9 (sodium/hydrogen exchanger), member 6|solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6" Solute carrier family 9 2162 1999-07-30 2016-02-25 2023-01-20 10479 ENSG00000198689 OTTHUMG00000022498 uc004ezk.4 AF030409 NM_006359 "CCDS55504|CCDS14654|CCDS83492|CCDS94676|CCDS44003" Q92581 "9507001|27142213" MGI:2443511 RGD:1563582 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC9A6 300231 SLC9A6 158415 objectId:953 HGNC:11079 "ENST00000630721.3|NM_001379110.1" HGNC:11079 +HGNC:17123 SLC9A7 solute carrier family 9 member A7 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "NHE7|NHE-7" Sodium/hydrogen exchanger 7 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 7|solute carrier family 9 (sodium/hydrogen exchanger), member 7|solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7" Solute carrier family 9 2162 2001-11-02 2016-02-25 2023-01-20 84679 ENSG00000065923 OTTHUMG00000021428 uc004dgu.3 AF298591 NM_032591 "CCDS14269|CCDS75967" Q96T83 "11279194|30335141" MGI:2444530 RGD:1561385 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC9A7 300368 SLC9A7 objectId:954 HGNC:17123 "ENST00000616978.5|NM_001257291.2" HGNC:17123 HGNC:32679 SLC9A7P1 solute carrier family 9 member 7 pseudogene 1 pseudogene pseudogene Approved 12q23.1 12q23.1 "solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1|solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1" 2011-07-15 2016-02-17 2016-02-17 121456 ENSG00000227825 OTTHUMG00000170629 NR_033801 SLC9A7P1 PGOHUM00000261838 HGNC:32679 HGNC:20728 SLC9A8 solute carrier family 9 member A8 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "KIAA0939|NHE8" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 8|solute carrier family 9 (sodium/hydrogen exchanger), member 8|solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8" Solute carrier family 9 2162 2003-03-28 2016-02-25 2023-01-20 23315 ENSG00000197818 OTTHUMG00000032710 uc002xuv.3 AB023156 NM_001260491 "CCDS58774|CCDS13421" Q9Y2E8 12409279 MGI:1924281 RGD:1308193 612730 SLC9A8 objectId:955 HGNC:20728 "ENST00000361573.3|NM_015266.3" HGNC:20653 SLC9A9 solute carrier family 9 member A9 protein-coding gene gene with protein product Approved 3q24 03q24 "FLJ35613|NHE9" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 9|solute carrier family 9 (sodium/hydrogen exchanger), member 9|solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9" Solute carrier family 9 2162 2003-03-28 2016-02-25 2023-01-20 285195 ENSG00000181804 OTTHUMG00000159373 uc003evn.3 AY254100 NM_173653 CCDS33872 Q8IVB4 14569117 MGI:2679732 RGD:1560736 608396 SLC9A9 318779 objectId:956 HGNC:20653 "ENST00000316549.11|NM_173653.4" HGNC:20653 HGNC:40928 SLC9A9-AS1 SLC9A9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q24 03q24 SLC9A9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100885796 ENSG00000240012 OTTHUMG00000159374 uc031sbu.1 NR_048544 SLC9A9-AS1 HGNC:40928 HGNC:40929 SLC9A9-AS2 SLC9A9 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q24 03q24 SLC9A9 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 106480356 ENSG00000244493 OTTHUMG00000159375 uc062orj.1 SLC9A9-AS2 -HGNC:24244 SLC9B1 solute carrier family 9 member B1 protein-coding gene gene with protein product Approved 4q24 04q24 NHA1 NHEDC1 "Na+/H+ exchanger domain containing 1|solute carrier family 9, subfamily B (cation proton antiporter 2), member 1|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1" Solute carrier family 9 2162 2007-05-15 2011-07-26 2016-02-17 2023-01-20 150159 ENSG00000164037 OTTHUMG00000161114 uc003hww.3 AF447585 NM_139173 "CCDS47119|CCDS34041" Q4ZJI4 16850186 MGI:1921696 RGD:1305087 611527 SLC9B1 objectId:2574 HGNC:24244 "ENST00000296422.12|NM_139173.4" +HGNC:24244 SLC9B1 solute carrier family 9 member B1 protein-coding gene gene with protein product Approved 4q24 04q24 NHA1 NHEDC1 "Na+/H+ exchanger domain containing 1|solute carrier family 9, subfamily B (cation proton antiporter 2), member 1|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1" Solute carrier family 9 2162 2007-05-15 2011-07-26 2016-02-17 2023-01-20 150159 ENSG00000164037 OTTHUMG00000161114 uc003hww.3 AF447585 NM_139173 "CCDS34041|CCDS47119" Q4ZJI4 16850186 MGI:1921696 RGD:1305087 611527 SLC9B1 objectId:2574 HGNC:24244 "ENST00000296422.12|NM_139173.4" HGNC:37492 SLC9B1P1 solute carrier family 9 member B1 pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 NHEDC1P1 "Na+/H+ exchanger domain containing 1 pseudogene 1|solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 1|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 1" 2009-10-28 2011-07-26 2016-02-17 2016-02-17 100128190 ENSG00000183704 NG_023008 A6NJY1 SLC9B1P1 PGOHUM00000263345 HGNC:37492 HGNC:37493 SLC9B1P2 solute carrier family 9 member B1 pseudogene 2 pseudogene pseudogene Approved 2p11.1 02p11.1 NHEDC1P2 "Na+/H+ exchanger domain containing 1 pseudogene 2|solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 2|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 2" 2009-10-28 2011-07-26 2016-02-17 2016-02-17 389000 ENSG00000214329 OTTHUMG00000155082 NG_009550 SLC9B1P2 PGOHUM00000259742 HGNC:37493 HGNC:43582 SLC9B1P3 solute carrier family 9 member B1 pseudogene 3 pseudogene pseudogene Approved 10p11.1 10p11.1 "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 3|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 3" 2011-11-15 2016-02-17 2016-02-17 100421008 ENSG00000233867 OTTHUMG00000018001 NG_025429 SLC9B1P3 PGOHUM00000238423 HGNC:43582 HGNC:43583 SLC9B1P4 solute carrier family 9 member B1 pseudogene 4 pseudogene pseudogene Approved 22q11.1 22q11.1 "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 4|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 4" 2011-11-15 2016-02-17 2016-02-17 644768 ENSG00000227367 OTTHUMG00000140399 NG_022866 SLC9B1P4 PGOHUM00000246197 HGNC:43583 HGNC:43584 SLC9B1P5 solute carrier family 9 member B1 pseudogene 5 pseudogene pseudogene Approved 16p11.2 16p11.2 "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 5|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 5" 2011-11-15 2016-02-17 2016-02-17 100533705 NG_028878 SLC9B1P5 PGOHUM00000249074 HGNC:43584 -HGNC:25143 SLC9B2 solute carrier family 9 member B2 protein-coding gene gene with protein product Approved 4q24 04q24 "FLJ23984|NHA2" NHEDC2 "Na+/H+ exchanger domain containing 2|solute carrier family 9, subfamily B (cation proton antiporter 2), member 2|solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2" Solute carrier family 9 2162 2007-05-15 2011-08-03 2016-02-17 2023-01-20 133308 ENSG00000164038 OTTHUMG00000131125 uc003hwx.5 AK172823 NM_178833 "CCDS75174|CCDS3662|CCDS75173" Q86UD5 18600791 MGI:2140077 RGD:1598112 611789 SLC9B2 objectId:2575 HGNC:25143 "ENST00000394785.9|NM_178833.7" -HGNC:31401 SLC9C1 solute carrier family 9 member C1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 NHE sperm-NHE SLC9A10 "solute carrier family 9, isoform 10|solute carrier family 9, member 10|solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1" Solute carrier family 9 2162 2004-12-23 2012-03-22 2016-02-17 2023-01-20 285335 ENSG00000172139 OTTHUMG00000159245 uc003dyu.4 AK128084 NM_183061 "CCDS82818|CCDS33817" Q4G0N8 12783626 MGI:2685456 RGD:1309075 612738 SLC9C1 objectId:957 HGNC:31401 "ENST00000305815.10|NM_183061.3" +HGNC:25143 SLC9B2 solute carrier family 9 member B2 protein-coding gene gene with protein product Approved 4q24 04q24 "FLJ23984|NHA2" NHEDC2 "Na+/H+ exchanger domain containing 2|solute carrier family 9, subfamily B (cation proton antiporter 2), member 2|solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2" Solute carrier family 9 2162 2007-05-15 2011-08-03 2016-02-17 2023-01-20 133308 ENSG00000164038 OTTHUMG00000131125 uc003hwx.5 AK172823 NM_178833 "CCDS3662|CCDS75174|CCDS75173" Q86UD5 18600791 MGI:2140077 RGD:1598112 611789 SLC9B2 objectId:2575 HGNC:25143 "ENST00000394785.9|NM_178833.7" +HGNC:31401 SLC9C1 solute carrier family 9 member C1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 NHE sperm-NHE SLC9A10 "solute carrier family 9, isoform 10|solute carrier family 9, member 10|solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1" Solute carrier family 9 2162 2004-12-23 2012-03-22 2016-02-17 2023-01-20 285335 ENSG00000172139 OTTHUMG00000159245 uc003dyu.4 AK128084 NM_183061 "CCDS33817|CCDS82818" Q4G0N8 12783626 MGI:2685456 RGD:1309075 612738 SLC9C1 objectId:957 HGNC:31401 "ENST00000305815.10|NM_183061.3" HGNC:28664 SLC9C2 solute carrier family 9 member C2 (putative) protein-coding gene gene with protein product Approved 1q25.1 01q25.1 MGC43026 SLC9A11 "solute carrier family 9, isoform 11|solute carrier family 9, member 11|solute carrier family 9, member C2" Solute carrier family 9 2162 2004-12-23 2012-03-22 2016-02-17 2023-01-20 284525 ENSG00000162753 OTTHUMG00000034800 uc001giz.3 AK128104 NM_178527 CCDS1308 Q5TAH2 24337822 RGD:1565820 620338 SLC9C2 objectId:958 HGNC:28664 "ENST00000367714.4|NM_178527.4" HGNC:10905 SLC10A1 solute carrier family 10 member 1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "NTCP|NTCP1" Na+/taurocholate cotransporting polypeptide solute carrier family 10 (sodium/bile acid cotransporter), member 1 Solute carrier family 10 2163 1994-02-16 2016-02-17 2023-01-20 6554 ENSG00000100652 OTTHUMG00000171236 uc001xlr.3 L21893 NM_003049 CCDS9797 Q14973 "8132774|14660639" MGI:97379 RGD:3681 182396 SLC10A1 objectId:959 HGNC:10905 "ENST00000216540.5|NM_003049.4" HGNC:10905 HGNC:10906 SLC10A2 solute carrier family 10 member 2 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 "NTCP2|IBAT" "ileal sodium-dependent bile acid transporter|apical sodium-dependent bile acid transporter|Na+/taurocholate cotransporting polypeptide 2|ileal bile acid transporter" "ASBT|ISBT" solute carrier family 10 (sodium/bile acid cotransporter), member 2 Solute carrier family 10 2163 1995-10-24 2016-02-17 2023-01-20 6555 ENSG00000125255 OTTHUMG00000017313 uc001vpy.4 U10417 NM_000452 CCDS9506 Q12908 "8661017|9109432" MGI:1201406 RGD:3682 601295 SLC10A2 457478 objectId:960 HGNC:10906 "ENST00000245312.5|NM_000452.3" HGNC:10906 @@ -35527,27 +35530,27 @@ HGNC:22980 SLC10A4 solute carrier family 10 member 4 protein-coding gene gene wi HGNC:22981 SLC10A5 solute carrier family 10 member 5 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "Sodium/bile acid cotransporter 5|Na(+)/bile acid cotransporter 5" solute carrier family 10, member 5 Solute carrier family 10 2163 2003-08-08 2015-12-04 2023-01-20 347051 ENSG00000253598 OTTHUMG00000164683 uc011lfs.3 NM_001010893 CCDS34915 Q5PT55 MGI:2685251 RGD:1306036 618582 SLC10A5 objectId:964 HGNC:22981 "ENST00000518568.3|NM_001010893.3" HGNC:48930 SLC10A5P1 SLC10A5 pseudogene 1 pseudogene pseudogene Approved 8q21.13 08q21.13 2013-07-15 2013-07-15 100631269 ENSG00000205184 OTTHUMG00000164681 NG_029285 PGOHUM00000249408 HGNC:48930 HGNC:30603 SLC10A6 solute carrier family 10 member 6 protein-coding gene gene with protein product Approved 4q21.3 04q21.3 SOAT solute carrier family 10 (sodium/bile acid cotransporter), member 6 Solute carrier family 10 2163 2005-06-14 2016-02-17 2023-01-20 345274 ENSG00000145283 OTTHUMG00000130596 uc003hqd.2 AJ583502 NM_197965 CCDS3614 Q3KNW5 "15020217|17491011" MGI:1923000 RGD:727800 613366 SLC10A6 objectId:961 HGNC:30603 "ENST00000273905.7|NM_197965.3" -HGNC:23088 SLC10A7 solute carrier family 10 member 7 protein-coding gene gene with protein product Approved 4q31.22 04q31.22 "MGC25043|DKFZp566M114|DKFZp313H0531|DKFZp779O2438" C4orf13 "chromosome 4 open reading frame 13|solute carrier family 10, member 7" Solute carrier family 10 2163 2003-09-25 2006-12-19 2015-12-04 2023-01-20 84068 ENSG00000120519 OTTHUMG00000161437 uc003ikr.3 AY346324 NM_032128 "CCDS34073|CCDS82962|CCDS3768|CCDS75198|CCDS82963|CCDS82964" Q0GE19 "15932064|7628207|29878199|30082715" MGI:1924025 RGD:1564388 611459 SLC10A7 objectId:965 HGNC:23088 "ENST00000335472.12|NM_001029998.6" HGNC:23088 +HGNC:23088 SLC10A7 solute carrier family 10 member 7 protein-coding gene gene with protein product Approved 4q31.22 04q31.22 "MGC25043|DKFZp566M114|DKFZp313H0531|DKFZp779O2438" C4orf13 "chromosome 4 open reading frame 13|solute carrier family 10, member 7" Solute carrier family 10 2163 2003-09-25 2006-12-19 2015-12-04 2023-01-20 84068 ENSG00000120519 OTTHUMG00000161437 uc003ikr.3 AY346324 NM_032128 "CCDS82962|CCDS3768|CCDS75198|CCDS82963|CCDS82964|CCDS34073" Q0GE19 "15932064|7628207|29878199|30082715" MGI:1924025 RGD:1564388 611459 SLC10A7 objectId:965 HGNC:23088 "ENST00000335472.12|NM_001029998.6" HGNC:23088 HGNC:10907 SLC11A1 solute carrier family 11 member 1 protein-coding gene gene with protein product Approved 2q35 02q35 "LSH|NRAMP|NRAMP1" "solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1|Leishmaniasis resistance|natural resistance-associated macrophage protein 1" Solute carrier family 11 2164 1994-07-21 2016-02-17 2023-01-20 6556 ENSG00000018280 OTTHUMG00000086747 uc002vhv.3 D38171 NM_000578 CCDS2415 P49279 "7964458|7980580|11736990" MGI:1345275 RGD:1601463 600266 SLC11A1 158401 objectId:966 HGNC:10907 "ENST00000233202.11|NM_000578.4" -HGNC:10908 SLC11A2 solute carrier family 11 member 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "DCT1|DMT1|DMT-1|FLJ37416" "Natural resistance-associated macrophage protein 2|divalent metal transporter 1|divalent cation transporter 1" NRAMP2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 Solute carrier family 11 2164 1995-12-19 2016-02-17 2023-01-20 4891 ENSG00000110911 OTTHUMG00000169493 uc001rxi.4 AB015355 NM_000617 "CCDS53793|CCDS53792|CCDS8805|CCDS91695|CCDS53791" P49281 "7613023|16584902" MGI:1345279 RGD:3684 LRG_1160|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1160.xml 600523 SLC11A2 118732 objectId:967 HGNC:10908 "ENST00000262052.9|NM_000617.3" HGNC:10908 -HGNC:10910 SLC12A1 solute carrier family 12 member 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "NKCC2|CCC2|BSC1|BSC|BSC-1" "Na-K-2Cl cotransporter 2|bumetanide-sensitive cotransporter type 1|Kidney-specific Na-K-Cl symporter" solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Solute carrier family 12 2152 1994-02-16 2016-02-17 2023-01-20 6557 ENSG00000074803 OTTHUMG00000131495 uc001zwn.5 NM_000338 "CCDS91995|CCDS53940|CCDS10129" Q13621 "8640224|17998760" MGI:103150 RGD:3685 600839 SLC12A1 118737 objectId:968 HGNC:10910 "ENST00000380993.8|NM_000338.3" HGNC:10910 +HGNC:10908 SLC11A2 solute carrier family 11 member 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "DCT1|DMT1|DMT-1|FLJ37416" "Natural resistance-associated macrophage protein 2|divalent metal transporter 1|divalent cation transporter 1" NRAMP2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 Solute carrier family 11 2164 1995-12-19 2016-02-17 2023-01-20 4891 ENSG00000110911 OTTHUMG00000169493 uc001rxi.4 AB015355 NM_000617 "CCDS53793|CCDS53792|CCDS53791|CCDS8805|CCDS91695" P49281 "7613023|16584902" MGI:1345279 RGD:3684 LRG_1160|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1160.xml 600523 SLC11A2 118732 objectId:967 HGNC:10908 "ENST00000262052.9|NM_000617.3" HGNC:10908 +HGNC:10910 SLC12A1 solute carrier family 12 member 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "NKCC2|CCC2|BSC1|BSC|BSC-1" "Na-K-2Cl cotransporter 2|bumetanide-sensitive cotransporter type 1|Kidney-specific Na-K-Cl symporter" solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Solute carrier family 12 2152 1994-02-16 2016-02-17 2023-01-20 6557 ENSG00000074803 OTTHUMG00000131495 uc001zwn.5 NM_000338 "CCDS10129|CCDS53940|CCDS91995" Q13621 "8640224|17998760" MGI:103150 RGD:3685 600839 SLC12A1 118737 objectId:968 HGNC:10910 "ENST00000380993.8|NM_000338.3" HGNC:10910 HGNC:10911 SLC12A2 solute carrier family 12 member 2 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 "NKCC1|BSC2|BSC-2|PPP1R141|CCC1" "basolateral Na-K-Cl symporter|protein phosphatase 1, regulatory subunit 141|bumetanide-sensitive cotransporter type 2" solute carrier family 12 (sodium/potassium/chloride transporter), member 2 "Protein phosphatase 1 regulatory subunits|Solute carrier family 12" "694|2152" 1994-02-16 2016-02-17 2023-01-20 6558 ENSG00000064651 OTTHUMG00000128983 uc003kus.4 NM_001046 "CCDS58965|CCDS4144" P55011 "7629105|32294086" MGI:101924 RGD:620809 600840 SLC12A2 objectId:969 HGNC:10911 "ENST00000262461.7|NM_001046.3" HGNC:10911 HGNC:49565 SLC12A2-DT SLC12A2 divergent transcript non-coding RNA RNA, long non-coding Approved 5q23.3 05q23.3 FLJ33630 LINC01184 long intergenic non-protein coding RNA 1184 Divergent transcripts 1990 2014-01-11 2021-09-13 2021-09-13 2021-09-13 644873 ENSG00000245937 OTTHUMG00000163312 BX648677 NR_015360 24036268 LINC01184 HGNC:49565 HGNC:10912 SLC12A3 solute carrier family 12 member 3 protein-coding gene gene with protein product Approved 16q13 16q13 "NCCT|NCC|TSC" "Na-Cl symporter|sodium-chloride co-transporter|Thiazide-sensitive sodium-chloride cotransporter" solute carrier family 12 (sodium/chloride transporter), member 3 "MicroRNA protein coding host genes|Solute carrier family 12" "1691|2152" 1995-10-02 2016-02-17 2023-01-20 6559 ENSG00000070915 OTTHUMG00000133284 uc002ekd.4 NM_000339 P55017 "8812482|8900229|35693921" MGI:108114 RGD:3686 600968 SLC12A3 118740 objectId:970 HGNC:10912 "ENST00000563236.6|NM_001126108.2" HGNC:10912 -HGNC:10913 SLC12A4 solute carrier family 12 member 4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 KCC1 solute carrier family 12 (potassium/chloride transporter), member 4 Solute carrier family 12 2152 1996-11-15 2016-02-17 2023-03-15 6560 ENSG00000124067 OTTHUMG00000137535 uc002euz.2 NM_005072 "CCDS54031|CCDS10855|CCDS54030" Q9UP95 8663127 MGI:1309465 RGD:3687 604119 SLC12A4 objectId:971 HGNC:10913 "ENST00000316341.8|NM_005072.5" -HGNC:13818 SLC12A5 solute carrier family 12 member 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "KIAA1176|KCC2|hKCC2" K-Cl cotransporter 2 solute carrier family 12 (potassium/chloride transporter), member 5 Solute carrier family 12 2152 2000-11-09 2016-02-17 2023-01-20 57468 ENSG00000124140 OTTHUMG00000032638 uc002xrb.3 AB033002 NM_001134771 "CCDS13391|CCDS46610" Q9H2X9 "11701957|12106695|27436767" MGI:1862037 RGD:620811 606726 SLC12A5 444948 objectId:972 HGNC:13818 "ENST00000243964.7|NM_020708.5" HGNC:13818 +HGNC:10913 SLC12A4 solute carrier family 12 member 4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 KCC1 solute carrier family 12 (potassium/chloride transporter), member 4 Solute carrier family 12 2152 1996-11-15 2016-02-17 2023-03-15 6560 ENSG00000124067 OTTHUMG00000137535 uc002euz.2 NM_005072 "CCDS54030|CCDS10855|CCDS54031" Q9UP95 8663127 MGI:1309465 RGD:3687 604119 SLC12A4 objectId:971 HGNC:10913 "ENST00000316341.8|NM_005072.5" +HGNC:13818 SLC12A5 solute carrier family 12 member 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "KIAA1176|KCC2|hKCC2" K-Cl cotransporter 2 solute carrier family 12 (potassium/chloride transporter), member 5 Solute carrier family 12 2152 2000-11-09 2016-02-17 2023-01-20 57468 ENSG00000124140 OTTHUMG00000032638 uc002xrb.3 AB033002 NM_001134771 "CCDS46610|CCDS13391" Q9H2X9 "11701957|12106695|27436767" MGI:1862037 RGD:620811 606726 SLC12A5 444948 objectId:972 HGNC:13818 "ENST00000243964.7|NM_020708.5" HGNC:13818 HGNC:53143 SLC12A5-AS1 SLC12A5 and MMP9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 RP11-465L10.10 Antisense RNAs 1987 2017-02-16 2017-02-16 109729184 ENSG00000204044 OTTHUMG00000032629 NR_147699 27816668 HGNC:53143 -HGNC:10914 SLC12A6 solute carrier family 12 member 6 protein-coding gene gene with protein product Approved 15q14 15q14 "KCC3A|KCC3B" K-Cl cotransporter 3 "KCC3|ACCPN" "agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)|solute carrier family 12 (potassium/chloride transporter), member 6" Solute carrier family 12 2152 1999-05-25 2016-02-17 2023-01-20 9990 ENSG00000140199 OTTHUMG00000129441 uc001zhv.4 AF108831 NM_005135 "CCDS58352|CCDS42011|CCDS10036|CCDS42010|CCDS42012" Q9UHW9 "10187864|10347194|34706912" MGI:2135960 RGD:1311335 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_270|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_270.xml" 604878 SLC12A6 118742 objectId:973 HGNC:10914 "ENST00000354181.8|NM_001365088.1" HGNC:10914 +HGNC:10914 SLC12A6 solute carrier family 12 member 6 protein-coding gene gene with protein product Approved 15q14 15q14 "KCC3A|KCC3B" K-Cl cotransporter 3 "KCC3|ACCPN" "agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)|solute carrier family 12 (potassium/chloride transporter), member 6" Solute carrier family 12 2152 1999-05-25 2016-02-17 2023-01-20 9990 ENSG00000140199 OTTHUMG00000129441 uc001zhv.4 AF108831 NM_005135 "CCDS58352|CCDS42011|CCDS42010|CCDS10036|CCDS42012" Q9UHW9 "10187864|10347194|34706912" MGI:2135960 RGD:1311335 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_270|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_270.xml" 604878 SLC12A6 118742 objectId:973 HGNC:10914 "ENST00000354181.8|NM_001365088.1" HGNC:10914 HGNC:10915 SLC12A7 solute carrier family 12 member 7 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "KCC4|DKFZP434F076" solute carrier family 12 (potassium/chloride transporter), member 7 "MicroRNA protein coding host genes|Solute carrier family 12" "1691|2152" 1999-07-30 2016-02-17 2023-01-20 10723 ENSG00000113504 OTTHUMG00000161931 uc003jbu.4 AF105365 NM_006598 CCDS34129 Q9Y666 10347194 MGI:1342283 RGD:1359672 604879 SLC12A7 objectId:974 HGNC:10915 "ENST00000264930.10|NM_006598.3" HGNC:15595 SLC12A8 solute carrier family 12 member 8 protein-coding gene gene with protein product Approved 3q21.2 03q21.2 CCC9 "solute carrier family 12 (sodium/potassium/chloride transporters), member 8|cation-chloride cotransporter 9" "MicroRNA protein coding host genes|Solute carrier family 12" "1691|2152" 2001-05-24 2016-02-17 2023-01-20 84561 ENSG00000221955 OTTHUMG00000159483 uc003ehv.5 NM_024628 CCDS43143 A0AV02 11863360 MGI:2443672 RGD:628730 611316 SLC12A8 objectId:975 HGNC:15595 "ENST00000469902.6|NM_024628.6" -HGNC:17435 SLC12A9 solute carrier family 12 member 9 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 CIP1 cation-chloride cotransporter-interacting protein Solute carrier family 12 2152 2003-07-25 2016-02-17 2023-01-20 56996 ENSG00000146828 OTTHUMG00000156045 uc003uwp.5 AF284422 NM_020246 "CCDS5707|CCDS59069|CCDS59068" Q9BXP2 "10871601|11239002" MGI:1933532 RGD:620747 616861 SLC12A9 objectId:976 HGNC:17435 "ENST00000354161.8|NM_020246.4" +HGNC:17435 SLC12A9 solute carrier family 12 member 9 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 CIP1 cation-chloride cotransporter-interacting protein Solute carrier family 12 2152 2003-07-25 2016-02-17 2023-01-20 56996 ENSG00000146828 OTTHUMG00000156045 uc003uwp.5 AF284422 NM_020246 "CCDS59068|CCDS5707|CCDS59069" Q9BXP2 "10871601|11239002" MGI:1933532 RGD:620747 616861 SLC12A9 objectId:976 HGNC:17435 "ENST00000354161.8|NM_020246.4" HGNC:40807 SLC12A9-AS1 SLC12A9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 RP11-126L15.4 Antisense RNAs 1987 2016-12-21 2016-12-21 105375430 ENSG00000236305 OTTHUMG00000157041 NR_146550 27980086 HGNC:40807 HGNC:10916 SLC13A1 solute carrier family 13 member 1 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "NaSi-1|NAS1" "solute carrier family 13 (sodium/sulphate symporters), member 1|solute carrier family 13 (sodium/sulfate symporter), member 1" Solute carrier family 13 2165 1994-02-16 2016-02-17 2023-01-20 6561 ENSG00000081800 OTTHUMG00000157087 uc003vkm.4 NM_022444 CCDS5786 Q9BZW2 11161786 MGI:1859937 RGD:61919 606193 SLC13A1 objectId:977 HGNC:10916 "ENST00000194130.7|NM_022444.4" -HGNC:10917 SLC13A2 solute carrier family 13 member 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 NaDC-1 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 Solute carrier family 13 2165 1999-01-26 2016-02-17 2023-03-15 9058 ENSG00000007216 OTTHUMG00000132523 uc002hbh.4 U26209 NM_003984 "CCDS54098|CCDS92282|CCDS11231" Q13183 "8967342|10343111" MGI:1276558 RGD:61920 604148 SLC13A2 objectId:978 HGNC:10917 "ENST00000314669.10|NM_003984.4" -HGNC:14430 SLC13A3 solute carrier family 13 member 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "NADC3|SDCT2" solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 Solute carrier family 13 2165 2001-06-13 2016-02-17 2023-01-20 64849 ENSG00000158296 OTTHUMG00000033042 uc002xsf.3 AF154121 NM_001011554 "CCDS54470|CCDS13400|CCDS54469|CCDS42886" Q8WWT9 "10794676|10992006" MGI:2149635 RGD:628786 606411 SLC13A3 objectId:979 HGNC:14430 "ENST00000279027.9|NM_022829.6" HGNC:14430 -HGNC:15827 SLC13A4 solute carrier family 13 member 4 protein-coding gene gene with protein product Approved 7q33 07q33 "SUT-1|SUT1" sulphate transporter 1 "solute carrier family 13 (sodium/sulphate symporters), member 4|solute carrier family 13 (sodium/sulfate symporter), member 4" Solute carrier family 13 2165 2001-06-13 2016-02-17 2023-01-20 26266 ENSG00000164707 OTTHUMG00000155539 uc003vta.4 AF169301 NM_012450 "CCDS94210|CCDS5840" Q9UKG4 10535998 MGI:2442367 RGD:1359715 604309 SLC13A4 objectId:980 HGNC:15827 "ENST00000682651.1|NM_001318192.2" -HGNC:23089 SLC13A5 solute carrier family 13 member 5 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "NACT|INDY|mINDY" "Na(+)/citrate cotransporter|mammalian INDY homolog (Drosophila)" solute carrier family 13 (sodium-dependent citrate transporter), member 5 Solute carrier family 13 2165 2003-09-09 2016-02-17 2023-01-20 284111 ENSG00000141485 OTTHUMG00000102052 uc002gdj.5 AJ489980 NM_177550 "CCDS67137|CCDS67136|CCDS45593|CCDS11079" Q86YT5 "12445824|32551328" MGI:3037150 RGD:631374 LRG_1020|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1020.xml 608305 SLC13A5 413976 objectId:981 HGNC:23089 "ENST00000433363.7|NM_177550.5" HGNC:23089 -HGNC:10918 SLC14A1 solute carrier family 14 member 1 (Kidd blood group) protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "HsT1341|RACH1|RACH2" JK "Kidd blood group|solute carrier family 14 (urea transporter), member 1|solute carrier family 14 (urea transporter), member 1 (Kidd blood group)" "Blood group antigens|Solute carrier family 14" "454|2166" 1994-02-15 2016-02-17 2023-01-20 6563 ENSG00000141469 OTTHUMG00000132617 uc002lbf.4 BC040128 NM_015865 "CCDS82252|CCDS77181|CCDS11925|CCDS45860" Q13336 7797558 MGI:1351654 RGD:3688 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_802|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_802.xml" 613868 SLC14A1 objectId:982 HGNC:10918 "ENST00000321925.9|NM_015865.7" +HGNC:10917 SLC13A2 solute carrier family 13 member 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 NaDC-1 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 Solute carrier family 13 2165 1999-01-26 2016-02-17 2023-03-15 9058 ENSG00000007216 OTTHUMG00000132523 uc002hbh.4 U26209 NM_003984 "CCDS92282|CCDS54098|CCDS11231" Q13183 "8967342|10343111" MGI:1276558 RGD:61920 604148 SLC13A2 objectId:978 HGNC:10917 "ENST00000314669.10|NM_003984.4" +HGNC:14430 SLC13A3 solute carrier family 13 member 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "NADC3|SDCT2" solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 Solute carrier family 13 2165 2001-06-13 2016-02-17 2023-01-20 64849 ENSG00000158296 OTTHUMG00000033042 uc002xsf.3 AF154121 NM_001011554 "CCDS42886|CCDS54470|CCDS13400|CCDS54469" Q8WWT9 "10794676|10992006" MGI:2149635 RGD:628786 606411 SLC13A3 objectId:979 HGNC:14430 "ENST00000279027.9|NM_022829.6" HGNC:14430 +HGNC:15827 SLC13A4 solute carrier family 13 member 4 protein-coding gene gene with protein product Approved 7q33 07q33 "SUT-1|SUT1" sulphate transporter 1 "solute carrier family 13 (sodium/sulphate symporters), member 4|solute carrier family 13 (sodium/sulfate symporter), member 4" Solute carrier family 13 2165 2001-06-13 2016-02-17 2023-01-20 26266 ENSG00000164707 OTTHUMG00000155539 uc003vta.4 AF169301 NM_012450 "CCDS5840|CCDS94210" Q9UKG4 10535998 MGI:2442367 RGD:1359715 604309 SLC13A4 objectId:980 HGNC:15827 "ENST00000682651.1|NM_001318192.2" +HGNC:23089 SLC13A5 solute carrier family 13 member 5 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "NACT|INDY|mINDY" "Na(+)/citrate cotransporter|mammalian INDY homolog (Drosophila)" solute carrier family 13 (sodium-dependent citrate transporter), member 5 Solute carrier family 13 2165 2003-09-09 2016-02-17 2023-01-20 284111 ENSG00000141485 OTTHUMG00000102052 uc002gdj.5 AJ489980 NM_177550 "CCDS11079|CCDS67136|CCDS45593|CCDS67137" Q86YT5 "12445824|32551328" MGI:3037150 RGD:631374 LRG_1020|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1020.xml 608305 SLC13A5 413976 objectId:981 HGNC:23089 "ENST00000433363.7|NM_177550.5" HGNC:23089 +HGNC:10918 SLC14A1 solute carrier family 14 member 1 (Kidd blood group) protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "HsT1341|RACH1|RACH2" JK "Kidd blood group|solute carrier family 14 (urea transporter), member 1|solute carrier family 14 (urea transporter), member 1 (Kidd blood group)" "Blood group antigens|Solute carrier family 14" "454|2166" 1994-02-15 2016-02-17 2023-01-20 6563 ENSG00000141469 OTTHUMG00000132617 uc002lbf.4 BC040128 NM_015865 "CCDS82252|CCDS77181|CCDS45860|CCDS11925" Q13336 7797558 MGI:1351654 RGD:3688 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_802|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_802.xml" 613868 SLC14A1 objectId:982 HGNC:10918 "ENST00000321925.9|NM_015865.7" HGNC:10919 SLC14A2 solute carrier family 14 member 2 protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "HUT2|UT2" solute carrier family 14 (urea transporter), member 2 Solute carrier family 14 2166 1998-09-22 2016-02-17 2023-01-20 8170 ENSG00000132874 OTTHUMG00000132616 uc010dnj.4 X96969 NM_001242692 CCDS11924 Q15849 8647271 MGI:1351653 RGD:3689 601611 SLC14A2 objectId:983 HGNC:10919 "ENST00000255226.11|NM_007163.4" HGNC:51125 SLC14A2-AS1 SLC14A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q12.3 18q12.3 Antisense RNAs 1987 2014-07-30 2014-07-30 101927980 ENSG00000267097 OTTHUMG00000179057 NR_110899 SLC14A2-AS1 HGNC:51125 HGNC:10920 SLC15A1 solute carrier family 15 member 1 protein-coding gene gene with protein product Approved 13q32.2-q32.3 13q32.2-q32.3 "PEPT1|HPECT1|HPEPT1" "peptide transporter HPEPT1|bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)|solute carrier family 15 oligopeptide transporter member 1" solute carrier family 15 (oligopeptide transporter), member 1 Solute carrier family 15 2167 1994-02-15 2016-02-17 2023-01-20 6564 ENSG00000088386 OTTHUMG00000017255 uc001vno.4 U13173 NM_005073 CCDS9489 P46059 7896779 MGI:1861376 RGD:621736 600544 SLC15A1 objectId:984 HGNC:10920 "ENST00000376503.10|NM_005073.4" @@ -35560,7 +35563,7 @@ HGNC:49445 SLC16A1-AS1 SLC16A1 antisense RNA 1 non-coding RNA RNA, long non-codi HGNC:48931 SLC16A1P1 SLC16A1 pseudogene 1 pseudogene pseudogene Approved 7q35 07q35 2013-07-15 2013-07-15 100422547 ENSG00000242280 OTTHUMG00000157772 NG_026644 PGOHUM00000260386 HGNC:48931 HGNC:10923 SLC16A2 solute carrier family 16 member 2 protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 "XPCT|MCT8|MCT7|DXS128E" "monocarboxylate transporter 8|X-linked PEST-containing transporter" "DXS128|AHDS|MRX22" "solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)|Allan-Herndon-Dudley syndrome|solute carrier family 16 (monocarboxylic acid transporters), member 2|mental retardation, X-linked 22|solute carrier family 16, member 2 (monocarboxylic acid transporter 8)|solute carrier family 16, member 2 (thyroid hormone transporter)" Solute carrier family 16 2168 1994-04-22 2016-02-17 2023-01-20 6567 ENSG00000147100 OTTHUMG00000021857 uc031tjy.2 NM_006517 CCDS14426 P36021 "7981683|12871948|15889350|20713192" MGI:1203732 RGD:628608 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC16A2 300095 SLC16A2 118746 objectId:992 HGNC:10923 "ENST00000587091.6|NM_006517.5" HGNC:10923 HGNC:10924 SLC16A3 solute carrier family 16 member 3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MCT3|MCT4" "solute carrier family 16 (monocarboxylic acid transporters), member 3|solute carrier family 16, member 3 (monocarboxylic acid transporter 4)|solute carrier family 16 (monocarboxylate transporter), member 3" "MicroRNA protein coding host genes|Solute carrier family 16" "1691|2168" 1999-02-10 2016-02-17 2023-01-20 9123 ENSG00000141526 OTTHUMG00000178832 uc021ufm.2 U81800 NM_004207 CCDS11804 O15427 9425115 MGI:1933438 RGD:620603 603877 SLC16A3 objectId:989 HGNC:10924 "ENST00000582743.6|NM_004207.4" -HGNC:10925 SLC16A4 solute carrier family 16 member 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "MCT4|MCT5" "solute carrier family 16 (monocarboxylic acid transporters), member 4|solute carrier family 16, member 4 (monocarboxylic acid transporter 5)|solute carrier family 16, member 4" Solute carrier family 16 2168 1999-02-10 2015-12-04 2023-01-20 9122 ENSG00000168679 OTTHUMG00000011285 uc001dzo.3 U59185 NM_004696 "CCDS55622|CCDS55624|CCDS823|CCDS55623|CCDS55621" O15374 9425115 MGI:2385183 RGD:1359655 603878 SLC16A4 objectId:994 HGNC:10925 "ENST00000369779.9|NM_004696.3" +HGNC:10925 SLC16A4 solute carrier family 16 member 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "MCT4|MCT5" "solute carrier family 16 (monocarboxylic acid transporters), member 4|solute carrier family 16, member 4 (monocarboxylic acid transporter 5)|solute carrier family 16, member 4" Solute carrier family 16 2168 1999-02-10 2015-12-04 2023-01-20 9122 ENSG00000168679 OTTHUMG00000011285 uc001dzo.3 U59185 NM_004696 "CCDS823|CCDS55623|CCDS55622|CCDS55621|CCDS55624" O15374 9425115 MGI:2385183 RGD:1359655 603878 SLC16A4 objectId:994 HGNC:10925 "ENST00000369779.9|NM_004696.3" HGNC:56051 SLC16A4-AS1 SLC16A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Antisense RNAs 1987 2021-12-09 2021-12-09 123706514 ENSG00000273373 HGNC:10926 SLC16A5 solute carrier family 16 member 5 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "MCT5|MCT6" "solute carrier family 16 (monocarboxylic acid transporters), member 5|solute carrier family 16, member 5 (monocarboxylic acid transporter 6)|solute carrier family 16 (monocarboxylate transporter), member 5" Solute carrier family 16 2168 1999-02-10 2016-02-17 2023-01-20 9121 ENSG00000170190 OTTHUMG00000179277 uc002jmr.5 U59299 NM_004695 CCDS11713 O15375 9425115 MGI:2443515 RGD:1582896 603879 SLC16A5 objectId:995 HGNC:10926 "ENST00000329783.9|NM_004695.4" HGNC:10927 SLC16A6 solute carrier family 16 member 6 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "MCT6|MCT7" "solute carrier family 16 (monocarboxylic acid transporters), member 6|solute carrier family 16, member 6 (monocarboxylic acid transporter 7)|solute carrier family 16, member 6" Solute carrier family 16 2168 1999-02-10 2015-12-04 2023-01-20 9120 ENSG00000108932 OTTHUMG00000179812 uc002jha.3 U79745 NM_004694 CCDS11675 O15403 9425115 MGI:2144585 RGD:735117 603880 SLC16A6 objectId:996 HGNC:10927 "ENST00000580666.6|NM_004694.5" @@ -35576,21 +35579,21 @@ HGNC:31037 SLC16A13 solute carrier family 16 member 13 protein-coding gene gene HGNC:26417 SLC16A14 solute carrier family 16 member 14 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "FLJ30794|MCT14" monocarboxylic acid transporter 14 "solute carrier family 16 (monocarboxylic acid transporters), member 14|solute carrier family 16, member 14" Solute carrier family 16 2168 2004-03-11 2015-12-04 2023-01-20 151473 ENSG00000163053 OTTHUMG00000133205 uc002vqd.2 BN000146 NM_152527 CCDS2473 Q7RTX9 MGI:1919031 RGD:1309675 SLC16A14 objectId:1001 HGNC:26417 "ENST00000295190.9|NM_152527.5" HGNC:43809 SLC16A14P1 solute carrier family 16 member 14 pseudogene 1 pseudogene pseudogene Approved 8q23.1 08q23.1 "solute carrier family 16, member 14 (monocarboxylic acid transporter 14) pseudogene 1|solute carrier family 16, member 14 pseudogene 1" 2012-03-12 2015-12-04 2015-12-04 100128685 ENSG00000213708 OTTHUMG00000160423 NG_022428 SLC16A14P1 PGOHUM00000249771 HGNC:43809 HGNC:10929 SLC17A1 solute carrier family 17 member 1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 NAPI-1 NPT1 "solute carrier family 17 (sodium phosphate), member 1|solute carrier family 17 (organic anion transporter), member 1" Solute carrier family 17 2169 1994-05-25 2016-02-17 2023-01-20 6568 ENSG00000124568 OTTHUMG00000016297 uc003nfh.5 NM_005074 CCDS4565 Q14916 8288239 MGI:103209 RGD:620099 182308 SLC17A1 objectId:1002 HGNC:10929 "ENST00000244527.10|NM_005074.5" -HGNC:10930 SLC17A2 solute carrier family 17 member 2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 NPT3 "solute carrier family 17 (sodium phosphate), member 2|solute carrier family 17, member 2" Solute carrier family 17 2169 1999-07-19 2016-02-17 2023-01-20 10246 ENSG00000112337 OTTHUMG00000014413 uc003nfl.5 U90544 NM_001286123 "CCDS4567|CCDS69060" O00624 9149941 MGI:2443098 RGD:1308821 611049 SLC17A2 objectId:1003 HGNC:10930 "ENST00000377850.8|NM_001286123.3" +HGNC:10930 SLC17A2 solute carrier family 17 member 2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 NPT3 "solute carrier family 17 (sodium phosphate), member 2|solute carrier family 17, member 2" Solute carrier family 17 2169 1999-07-19 2016-02-17 2023-01-20 10246 ENSG00000112337 OTTHUMG00000014413 uc003nfl.5 U90544 NM_001286123 "CCDS69060|CCDS4567" O00624 9149941 MGI:2443098 RGD:1308821 611049 SLC17A2 objectId:1003 HGNC:10930 "ENST00000377850.8|NM_001286123.3" HGNC:10931 SLC17A3 solute carrier family 17 member 3 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 NPT4 "solute carrier family 17 (sodium phosphate), member 3|solute carrier family 17 (organic anion transporter), member 3" Solute carrier family 17 2169 1999-07-19 2016-02-17 2023-01-20 10786 ENSG00000124564 OTTHUMG00000014412 uc063mfq.1 U90545 NM_001098486 "CCDS47385|CCDS4566" O00476 9149941 MGI:2389216 RGD:628815 611034 SLC17A3 objectId:1004 HGNC:10931 "ENST00000397060.8|NM_001098486.2" -HGNC:10932 SLC17A4 solute carrier family 17 member 4 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 KIAA2138 "solute carrier family 17 (sodium phosphate), member 4|solute carrier family 17, member 4" Solute carrier family 17 2169 1999-07-19 2016-02-17 2023-01-20 10050 ENSG00000146039 OTTHUMG00000014410 uc003nfe.4 AB020527 NM_001286121 "CCDS75411|CCDS4564" Q9Y2C5 10319585 MGI:2442850 RGD:1584758 604216 SLC17A4 objectId:1005 HGNC:10932 "ENST00000377905.9|NM_005495.3" +HGNC:10932 SLC17A4 solute carrier family 17 member 4 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 KIAA2138 "solute carrier family 17 (sodium phosphate), member 4|solute carrier family 17, member 4" Solute carrier family 17 2169 1999-07-19 2016-02-17 2023-01-20 10050 ENSG00000146039 OTTHUMG00000014410 uc003nfe.4 AB020527 NM_001286121 "CCDS4564|CCDS75411" Q9Y2C5 10319585 MGI:2442850 RGD:1584758 604216 SLC17A4 objectId:1005 HGNC:10932 "ENST00000377905.9|NM_005495.3" HGNC:10933 SLC17A5 solute carrier family 17 member 5 protein-coding gene gene with protein product Approved 6q13 06q13 "AST|SD|ISSD|NSD|SIALIN|SLD" "acidic sugar transporter|infantile sialic acid storage disorder|Salla disease" SIASD "sialic acid storage disease|solute carrier family 17 (anion/sugar transporter), member 5|solute carrier family 17 (acidic sugar transporter), member 5" Solute carrier family 17 2169 2000-01-06 2016-02-17 2023-01-20 26503 ENSG00000119899 OTTHUMG00000015039 uc003phn.5 AJ387747 NM_001382629 CCDS4981 Q9NRA2 "8198127|10947946|10581036|15510212" MGI:1924105 RGD:1311388 604322 SLC17A5 118753 objectId:1006 HGNC:10933 "ENST00000355773.6|NM_012434.5" HGNC:10933 HGNC:16703 SLC17A6 solute carrier family 17 member 6 protein-coding gene gene with protein product Approved 11p14.3 11p14.3 "DNPI|VGLUT2" "vesicular glutamate transporter 2|differentiation-associated Na-dependent inorganic phosphate cotransporter" "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6|solute carrier family 17 (vesicular glutamate transporter), member 6" Solute carrier family 17 2169 2001-09-27 2016-02-17 2023-01-20 57084 ENSG00000091664 OTTHUMG00000166063 uc001mqk.4 AB032435 NM_020346 CCDS7856 Q9P2U8 11306821 MGI:2156052 RGD:620531 607563 SLC17A6 objectId:1008 HGNC:16703 "ENST00000263160.4|NM_020346.3" HGNC:55514 SLC17A6-DT SLC17A6 divergent transcript non-coding RNA RNA, long non-coding Approved 11p14.3 11p14.3 Divergent transcripts 1990 2021-03-17 2021-03-17 120883619 ENSG00000254768 HGNC:16704 SLC17A7 solute carrier family 17 member 7 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "BNPI|VGLUT1" vesicular glutamate transporter 1 "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7|solute carrier family 17 (vesicular glutamate transporter), member 7" Solute carrier family 17 2169 2001-09-27 2016-02-17 2023-01-20 57030 ENSG00000104888 OTTHUMG00000183166 uc002pnp.4 AB032436 NM_020309 CCDS12764 Q9P2U7 "8632143|10820226" MGI:1920211 RGD:620101 605208 SLC17A7 objectId:1007 HGNC:16704 "ENST00000221485.8|NM_020309.4" HGNC:20151 SLC17A8 solute carrier family 17 member 8 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 VGLUT3 vesicular glutamate transporter 3 DFNA25 "deafness, autosomal dominant 25|solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8|solute carrier family 17 (vesicular glutamate transporter), member 8" Solute carrier family 17 2169 2003-06-10 2016-02-17 2023-03-09 246213 ENSG00000179520 OTTHUMG00000170358 uc010svi.2 AJ459241 NM_139319 "CCDS9077|CCDS44957" Q8NDX2 "12151341|26797701" MGI:3039629 RGD:628870 607557 SLC17A8 169896 objectId:1009 HGNC:20151 "ENST00000323346.10|NM_139319.3" HGNC:20151 -HGNC:16192 SLC17A9 solute carrier family 17 member 9 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ23412|VNUT" C20orf59 "chromosome 20 open reading frame 59|solute carrier family 17, member 9|solute carrier family 17 (vesicular nucleotide transporter), member 9" Solute carrier family 17 2169 2001-07-17 2009-01-22 2016-02-17 2023-01-20 63910 ENSG00000101194 OTTHUMG00000032951 uc002yea.5 AK027065 NM_022082 "CCDS77600|CCDS42901" Q9BYT1 18375752 MGI:1919107 RGD:1311940 612107 SLC17A9 413026 objectId:1010 HGNC:16192 "ENST00000370351.9|NM_022082.4" HGNC:16192 -HGNC:10934 SLC18A1 solute carrier family 18 member A1 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 CGAT "VMAT1|VAT1" solute carrier family 18 (vesicular monoamine transporter), member 1 Solute carrier family 18 2170 1994-05-25 2016-02-25 2023-01-20 6570 ENSG00000036565 OTTHUMG00000097017 uc003wzm.3 NM_001135691 "CCDS47814|CCDS47815|CCDS6013" P54219 MGI:106684 RGD:3693 193002 SLC18A1 objectId:1011 HGNC:10934 "ENST00000276373.10|NM_003053.4" +HGNC:16192 SLC17A9 solute carrier family 17 member 9 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ23412|VNUT" C20orf59 "chromosome 20 open reading frame 59|solute carrier family 17, member 9|solute carrier family 17 (vesicular nucleotide transporter), member 9" Solute carrier family 17 2169 2001-07-17 2009-01-22 2016-02-17 2023-01-20 63910 ENSG00000101194 OTTHUMG00000032951 uc002yea.5 AK027065 NM_022082 "CCDS42901|CCDS77600" Q9BYT1 18375752 MGI:1919107 RGD:1311940 612107 SLC17A9 413026 objectId:1010 HGNC:16192 "ENST00000370351.9|NM_022082.4" HGNC:16192 +HGNC:10934 SLC18A1 solute carrier family 18 member A1 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 CGAT "VMAT1|VAT1" solute carrier family 18 (vesicular monoamine transporter), member 1 Solute carrier family 18 2170 1994-05-25 2016-02-25 2023-01-20 6570 ENSG00000036565 OTTHUMG00000097017 uc003wzm.3 NM_001135691 "CCDS6013|CCDS47815|CCDS47814" P54219 MGI:106684 RGD:3693 193002 SLC18A1 objectId:1011 HGNC:10934 "ENST00000276373.10|NM_003053.4" HGNC:10935 SLC18A2 solute carrier family 18 member A2 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "SVMT|SVAT|VAT2" Synaptic vesicular amine transporter VMAT2 solute carrier family 18 (vesicular monoamine transporter), member 2 Solute carrier family 18 2170 1994-05-25 2016-02-25 2023-01-20 6571 ENSG00000165646 OTTHUMG00000019121 uc001ldd.3 L14269 NM_003054 CCDS7599 Q05940 "23363473|8643547" MGI:106677 RGD:3694 193001 SLC18A2 356164 objectId:1012 HGNC:10935 "ENST00000644641.2|NM_003054.6" HGNC:10935 HGNC:55843 SLC18A2-AS1 SLC18A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.3 10q25.3 Antisense RNAs 1987 2021-08-09 2021-08-09 105378500 ENSG00000225936 NR_184309 HGNC:10936 SLC18A3 solute carrier family 18 member A3 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 VACHT solute carrier family 18 (vesicular acetylcholine transporter), member 3 Solute carrier family 18 2170 1995-06-01 2016-02-25 2023-01-20 6572 ENSG00000187714 OTTHUMG00000018196 uc001jhw.3 BC007765 NM_003055 CCDS7231 Q16572 8071310 MGI:1101061 RGD:62072 600336 SLC18A3 471070 objectId:1013 HGNC:10936 "ENST00000374115.5|NM_003055.3" HGNC:10936 HGNC:21573 SLC18B1 solute carrier family 18 member B1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 dJ55C23.6 C6orf192 "chromosome 6 open reading frame 192|solute carrier family 18, subfamily B, member 1" Solute carrier family 18 2170 2003-11-26 2012-03-09 2016-02-17 2023-01-20 116843 ENSG00000146409 OTTHUMG00000015595 uc003qdw.2 AK124442 NM_052831 CCDS5163 Q6NT16 19697161 MGI:1923556 RGD:1306962 613361 SLC18B1 objectId:2556 HGNC:21573 "ENST00000275227.9|NM_052831.3" -HGNC:10937 SLC19A1 solute carrier family 19 member 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "FOLT|RFC1|IFC-1|RFC|hRFC|RFT-1" "reduced folate carrier 1|Folate transporter 1|intestinal folate carrier 1|Folate:anion antiporter SLC19A1" solute carrier family 19 (folate transporter), member 1 "Minor histocompatibility antigens|Solute carrier family 19" "870|2171" 1995-05-01 2016-02-17 2023-03-15 6573 ENSG00000173638 OTTHUMG00000090397 uc010gpy.1 U15939 NM_001205206 "CCDS13725|CCDS56218|CCDS56217" P41440 9570943 MGI:103182 RGD:3695 600424 SLC19A1 311352 objectId:1014 HGNC:10937 "ENST00000311124.9|NM_194255.4" +HGNC:10937 SLC19A1 solute carrier family 19 member 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "FOLT|RFC1|IFC-1|RFC|hRFC|RFT-1" "reduced folate carrier 1|Folate transporter 1|intestinal folate carrier 1|Folate:anion antiporter SLC19A1" solute carrier family 19 (folate transporter), member 1 "Minor histocompatibility antigens|Solute carrier family 19" "870|2171" 1995-05-01 2016-02-17 2023-03-15 6573 ENSG00000173638 OTTHUMG00000090397 uc010gpy.1 U15939 NM_001205206 "CCDS56218|CCDS13725|CCDS56217" P41440 9570943 MGI:103182 RGD:3695 600424 SLC19A1 311352 objectId:1014 HGNC:10937 "ENST00000311124.9|NM_194255.4" HGNC:10938 SLC19A2 solute carrier family 19 member 2 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "THTR1|ThT1" "thiamine-responsive megaloblastic anaemia|Thiamine transporter 1" TRMA solute carrier family 19 (thiamine transporter), member 2 Solute carrier family 19 2171 1999-04-09 2016-02-17 2023-01-20 10560 ENSG00000117479 OTTHUMG00000035452 uc001gge.5 AF135488 NM_006996 "CCDS81398|CCDS1280" O60779 "9399900|10391221" MGI:1928761 RGD:1308611 603941 SLC19A2 118762 objectId:1015 HGNC:10938 "ENST00000236137.10|NM_006996.3" HGNC:10938 HGNC:16266 SLC19A3 solute carrier family 19 member 3 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "THTR2|thTr-2|hTHTR2" thiamine transporter 2 "solute carrier family 19, member 3|solute carrier family 19 (thiamine transporter), member 3" Solute carrier family 19 2171 2001-07-19 2016-02-17 2023-01-20 80704 ENSG00000135917 OTTHUMG00000133185 uc002vpi.4 AF271633 NM_025243 CCDS2468 Q9BZV2 "11136550|15871139" MGI:1931307 RGD:1311413 606152 SLC19A3 118766 objectId:1016 HGNC:16266 "ENST00000644224.2|NM_025243.4" HGNC:16266 HGNC:10946 SLC20A1 solute carrier family 20 member 1 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "PiT-1|Glvr-1|PiT1" gibbon ape leukemia virus receptor 1 GLVR1 solute carrier family 20 (phosphate transporter), member 1 Solute carrier family 20 2172 1989-10-18 2016-02-17 2023-01-20 6574 ENSG00000144136 OTTHUMG00000131317 uc002tib.4 NM_005415 CCDS2099 Q8WUM9 "8041748|16790504" MGI:108392 RGD:621079 137570 SLC20A1 objectId:1017 HGNC:10946 "ENST00000272542.8|NM_005415.5" @@ -35603,35 +35606,35 @@ HGNC:10963 SLC22A1 solute carrier family 22 member 1 protein-coding gene gene wi HGNC:10966 SLC22A2 solute carrier family 22 member 2 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 OCT2 organic cation transporter 2 solute carrier family 22 (organic cation transporter), member 2 Solute carrier family 22 2173 1998-01-20 2016-02-17 2023-01-20 6582 ENSG00000112499 OTTHUMG00000015950 uc003qtf.4 X98333 NM_003058 CCDS5276 O15244 9605850 MGI:1335072 RGD:61936 602608 SLC22A2 471074 objectId:1020 HGNC:10966 "ENST00000366953.8|NM_003058.4" HGNC:10967 SLC22A3 solute carrier family 22 member 3 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "OCT3|EMT" "organic cation transporter 3|extraneuronal monoamine transporter" "solute carrier family 22 (extraneuronal monoamine transporter), member 3|solute carrier family 22 (organic cation transporter), member 3" Solute carrier family 22 2173 1998-07-16 2016-02-17 2023-01-20 6581 ENSG00000146477 OTTHUMG00000015953 uc003qti.5 AF078749 NM_021977 CCDS5277 O75751 "9632645|9933568" MGI:1333817 RGD:3701 604842 SLC22A3 objectId:1021 HGNC:10967 "ENST00000275300.3|NM_021977.4" HGNC:10968 SLC22A4 solute carrier family 22 member 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "OCTN1|MGC34546" DFNB60 "solute carrier family 22 (organic cation/ergothioneine transporter), member 4|solute carrier family 22 (organic cation/zwitterion transporter), member 4|deafness, autosomal recessive 60" Solute carrier family 22 2173 1998-07-16 2016-02-17 2023-01-20 6583 ENSG00000197208 OTTHUMG00000059648 uc003kwq.4 AB007448 NM_003059 CCDS4153 Q9H015 "9426230|15795384|27023905" MGI:1353479 RGD:621149 604190 SLC22A4 objectId:1022 HGNC:10968 "ENST00000200652.4|NM_003059.3" -HGNC:10969 SLC22A5 solute carrier family 22 member 5 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "OCTN2|SCD" "systemic carnitine deficiency|organic cation/carnitine transporter 2" CDSP "solute carrier family 22 (organic cation/carnitine transporter), member 5|carnitine deficiency, systemic primary" Solute carrier family 22 2173 1998-07-16 2016-02-17 2023-01-20 6584 ENSG00000197375 OTTHUMG00000059634 uc003kww.5 AF057164 NM_003060 "CCDS4154|CCDS78058" O76082 "9618255|9916797|9685390|9634512|16931768" MGI:1329012 RGD:3702 603377 SLC22A5 118781 objectId:1023 HGNC:10969 "ENST00000245407.8|NM_003060.4" HGNC:10969 -HGNC:10970 SLC22A6 solute carrier family 22 member 6 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "ROAT1|PAHT|OAT1" solute carrier family 22 (organic anion transporter), member 6 Solute carrier family 22 2173 1999-07-30 2016-02-17 2023-01-20 9356 ENSG00000197901 OTTHUMG00000167767 uc001nwj.4 AF057039 NM_004790 "CCDS8041|CCDS44632|CCDS44631|CCDS31591" Q4U2R8 "9762842|9950961" MGI:892001 RGD:69338 607582 SLC22A6 objectId:1025 HGNC:10970 "ENST00000360421.9|NM_153276.3" +HGNC:10969 SLC22A5 solute carrier family 22 member 5 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "OCTN2|SCD" "systemic carnitine deficiency|organic cation/carnitine transporter 2" CDSP "solute carrier family 22 (organic cation/carnitine transporter), member 5|carnitine deficiency, systemic primary" Solute carrier family 22 2173 1998-07-16 2016-02-17 2023-01-20 6584 ENSG00000197375 OTTHUMG00000059634 uc003kww.5 AF057164 NM_003060 "CCDS78058|CCDS4154" O76082 "9618255|9916797|9685390|9634512|16931768" MGI:1329012 RGD:3702 603377 SLC22A5 118781 objectId:1023 HGNC:10969 "ENST00000245407.8|NM_003060.4" HGNC:10969 +HGNC:10970 SLC22A6 solute carrier family 22 member 6 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "ROAT1|PAHT|OAT1" solute carrier family 22 (organic anion transporter), member 6 Solute carrier family 22 2173 1999-07-30 2016-02-17 2023-01-20 9356 ENSG00000197901 OTTHUMG00000167767 uc001nwj.4 AF057039 NM_004790 "CCDS31591|CCDS44632|CCDS8041|CCDS44631" Q4U2R8 "9762842|9950961" MGI:892001 RGD:69338 607582 SLC22A6 objectId:1025 HGNC:10970 "ENST00000360421.9|NM_153276.3" HGNC:10971 SLC22A7 solute carrier family 22 member 7 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "NLT|OAT2" solute carrier family 22 (organic anion transporter), member 7 Solute carrier family 22 2173 1999-07-30 2016-02-17 2023-01-20 10864 ENSG00000137204 OTTHUMG00000014726 uc063oqz.1 AF097518 NM_006672 "CCDS4893|CCDS4892" Q9Y694 "9650585|10773670" MGI:1859559 RGD:621699 604995 SLC22A7 objectId:1026 HGNC:10971 "ENST00000372585.10|NM_153320.2" -HGNC:10972 SLC22A8 solute carrier family 22 member 8 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 OAT3 solute carrier family 22 (organic anion transporter), member 8 Solute carrier family 22 2173 1999-07-30 2016-02-17 2023-01-20 9376 ENSG00000149452 OTTHUMG00000167768 uc001nwo.4 "AF097491|BC022387" NM_004254 "CCDS53643|CCDS8042|CCDS53644" Q8TCC7 10049739 MGI:1336187 RGD:632286 607581 SLC22A8 objectId:1027 HGNC:10972 "ENST00000336232.7|NM_004254.4" +HGNC:10972 SLC22A8 solute carrier family 22 member 8 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 OAT3 solute carrier family 22 (organic anion transporter), member 8 Solute carrier family 22 2173 1999-07-30 2016-02-17 2023-01-20 9376 ENSG00000149452 OTTHUMG00000167768 uc001nwo.4 "AF097491|BC022387" NM_004254 "CCDS53644|CCDS8042|CCDS53643" Q8TCC7 10049739 MGI:1336187 RGD:632286 607581 SLC22A8 objectId:1027 HGNC:10972 "ENST00000336232.7|NM_004254.4" HGNC:16261 SLC22A9 solute carrier family 22 member 9 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "OAT4|FLJ23666|UST3|OAT7" solute carrier family 22 (organic anion transporter), member 9 Solute carrier family 22 2173 2002-01-31 2016-02-17 2023-01-20 114571 ENSG00000149742 OTTHUMG00000167805 uc001nww.4 AP001880 NM_080866 CCDS8043 Q8IVM8 "11327718|17393504" "MGI:2442751|MGI:2385316|MGI:3042283|MGI:3645714|MGI:3605624|MGI:2442750" RGD:621104 607579 SLC22A9 objectId:1028 HGNC:16261 "ENST00000279178.4|NM_080866.3" HGNC:18057 SLC22A10 solute carrier family 22 member 10 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "OAT5|hOAT5" "solute carrier family 22 (organic anion/cation transporter), member 10|solute carrier family 22, member 10" Solute carrier family 22 2173 2002-01-30 2015-12-08 2023-01-20 387775 ENSG00000184999 OTTHUMG00000165197 uc009yor.4 AP003420 NM_001039752 CCDS41661 Q63ZE4 11327718 "MGI:2442750|MGI:2442751|MGI:3042283|MGI:3605624|MGI:3645714" RGD:1304605 607580 SLC22A10 objectId:1029 HGNC:18057 "ENST00000332793.11|NM_001039752.4" -HGNC:18120 SLC22A11 solute carrier family 22 member 11 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 OAT4 solute carrier family 22 (organic anion/urate transporter), member 11 Solute carrier family 22 2173 2002-01-31 2016-02-17 2023-01-20 55867 ENSG00000168065 OTTHUMG00000045142 uc001oai.4 AB026116 NM_018484 "CCDS8074|CCDS76425" Q9NSA0 "10660625|15576633|17229912" 607097 SLC22A11 objectId:1030 HGNC:18120 "ENST00000301891.9|NM_018484.4" -HGNC:17989 SLC22A12 solute carrier family 22 member 12 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "OAT4L|RST|URAT1|hURAT1|UAT" "renal-specific transporter|urate anion transporter 1" "solute carrier family 22 (organic anion/cation transporter), member 12|solute carrier family 22 (organic anion/urate transporter), member 12" Solute carrier family 22 2173 2002-07-31 2016-02-18 2023-03-15 116085 ENSG00000197891 OTTHUMG00000045213 uc001oam.3 AB071863 NM_144585 "CCDS60836|CCDS8075|CCDS60835" Q96S37 "12024214|15327384" MGI:1195269 RGD:621628 607096 SLC22A12 166795 objectId:1031 HGNC:17989 "ENST00000377574.6|NM_144585.4" HGNC:17989 +HGNC:18120 SLC22A11 solute carrier family 22 member 11 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 OAT4 solute carrier family 22 (organic anion/urate transporter), member 11 Solute carrier family 22 2173 2002-01-31 2016-02-17 2023-01-20 55867 ENSG00000168065 OTTHUMG00000045142 uc001oai.4 AB026116 NM_018484 "CCDS76425|CCDS8074" Q9NSA0 "10660625|15576633|17229912" 607097 SLC22A11 objectId:1030 HGNC:18120 "ENST00000301891.9|NM_018484.4" +HGNC:17989 SLC22A12 solute carrier family 22 member 12 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "OAT4L|RST|URAT1|hURAT1|UAT" "renal-specific transporter|urate anion transporter 1" "solute carrier family 22 (organic anion/cation transporter), member 12|solute carrier family 22 (organic anion/urate transporter), member 12" Solute carrier family 22 2173 2002-07-31 2016-02-18 2023-03-15 116085 ENSG00000197891 OTTHUMG00000045213 uc001oam.3 AB071863 NM_144585 "CCDS8075|CCDS60836|CCDS60835" Q96S37 "12024214|15327384" MGI:1195269 RGD:621628 607096 SLC22A12 166795 objectId:1031 HGNC:17989 "ENST00000377574.6|NM_144585.4" HGNC:17989 HGNC:8494 SLC22A13 solute carrier family 22 member 13 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "OCTL1|OCTL3|OAT10" ORCTL3 "organic cationic transporter-like 3|solute carrier family 22 (organic anion transporter), member 13|solute carrier family 22 (organic anion/urate transporter), member 13" Solute carrier family 22 2173 1999-03-31 2003-10-15 2016-02-18 2023-01-20 9390 ENSG00000172940 OTTHUMG00000131086 uc003chz.4 AB010438 NM_004256 CCDS2676 Q9Y226 "10072596|18411268" MGI:2143107 RGD:1583222 604047 SLC22A13 objectId:1032 HGNC:8494 "ENST00000311856.9|NM_004256.4" HGNC:8495 SLC22A14 solute carrier family 22 member 14 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 OCTL2 ORCTL4 "organic cationic transporter-like 4|solute carrier family 22 (organic cation transporter), member 14|solute carrier family 22, member 14" Solute carrier family 22 2173 1999-03-31 2003-10-15 2015-12-08 2023-01-20 9389 ENSG00000144671 OTTHUMG00000131082 uc010hhc.2 AB011082 NM_004803 CCDS2677 Q9Y267 10072596 MGI:2685974 RGD:1306470 604048 SLC22A14 objectId:1033 HGNC:8495 "ENST00000448498.6|NM_001320033.2" HGNC:20301 SLC22A15 solute carrier family 22 member 15 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 FLIPT1 "solute carrier family 22 (organic cation transporter), member 15|solute carrier family 22, member 15" Solute carrier family 22 2173 2003-10-08 2015-12-08 2023-01-20 55356 ENSG00000163393 OTTHUMG00000012008 uc001egb.4 AY145501 NM_018420 CCDS44198 Q8IZD6 12372408 MGI:3607704 RGD:1311184 608275 SLC22A15 objectId:1034 HGNC:20301 "ENST00000369503.9|NM_018420.3" HGNC:20302 SLC22A16 solute carrier family 22 member 16 protein-coding gene gene with protein product Approved 6q21 06q21 "FLIPT2|CT2|OKB1|OAT6" "solute carrier family 22 (organic cation transporter), member 16|solute carrier family 22 (organic cation/carnitine transporter), member 16" Solute carrier family 22 2173 2003-10-08 2016-02-18 2023-01-20 85413 ENSG00000004809 OTTHUMG00000016171 uc003puf.5 NM_033125 CCDS5084 Q86VW1 "12372408|12089149|17473959" MGI:1918090 RGD:1592810 608276 SLC22A16 objectId:1024 HGNC:20302 "ENST00000368919.8|NM_033125.4" HGNC:23095 SLC22A17 solute carrier family 22 member 17 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "BOCT|BOIT|NGALR" neutrophil gelatinase-associated lipocalin receptor solute carrier family 22, member 17 Solute carrier family 22 2173 2003-09-24 2015-12-08 2023-01-20 51310 ENSG00000092096 OTTHUMG00000028740 uc058zqw.1 AJ243653 NM_020372 CCDS9594 Q8WUG5 16377569 MGI:1926225 RGD:631405 611461 SLC22A17 objectId:1035 HGNC:23095 "ENST00000354772.10|NM_016609.7" -HGNC:10964 SLC22A18 solute carrier family 22 member 18 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "BWR1A|TSSC5|ITM" "organic cation transporter like 2|imprinted multi-membrane-spanning polyspecific transporter-like gene 1" "ORCTL2|BWSCR1A|IMPT1|SLC22A1L" "solute carrier family 22 (organic cation transporter), member 1-like|solute carrier family 22, member 18" Solute carrier family 22 2173 1998-06-05 2004-01-21 2015-12-08 2023-01-20 5002 ENSG00000110628 OTTHUMG00000010037 uc001lwx.3 AF028738 NM_183233 "CCDS81542|CCDS7740" Q96BI1 "9499412|9520460" MGI:1336884 RGD:1303323 LRG_1054|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1054.xml 602631 SLC22A18 437689 objectId:1036 HGNC:10964 "ENST00000649076.2|NM_002555.6" +HGNC:10964 SLC22A18 solute carrier family 22 member 18 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "BWR1A|TSSC5|ITM" "organic cation transporter like 2|imprinted multi-membrane-spanning polyspecific transporter-like gene 1" "ORCTL2|BWSCR1A|IMPT1|SLC22A1L" "solute carrier family 22 (organic cation transporter), member 1-like|solute carrier family 22, member 18" Solute carrier family 22 2173 1998-06-05 2004-01-21 2015-12-08 2023-01-20 5002 ENSG00000110628 OTTHUMG00000010037 uc001lwx.3 AF028738 NM_183233 "CCDS7740|CCDS81542" Q96BI1 "9499412|9520460" MGI:1336884 RGD:1303323 LRG_1054|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1054.xml 602631 SLC22A18 437689 objectId:1036 HGNC:10964 "ENST00000649076.2|NM_002555.6" HGNC:10965 SLC22A18AS SLC22A18 antisense RNA non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 "BWR1B|p27-BWR1B|SLC22A18-AS1" "BWSCR1B|ORCTL2S|SLC22A1LS" "solute carrier family 22 (organic cation transporter), member 1-like antisense|solute carrier family 22 (organic cation transporter), member 18 antisense|solute carrier family 22 member 18 antisense" Antisense RNAs 1987 1998-05-27 2005-08-23 2021-10-19 2023-03-15 5003 ENSG00000254827 OTTHUMG00000010038 uc057xyv.2 AF035407 NR_169305 Q8N1D0 "9570947|9520460|15175115" 603240 HGNC:10965 HGNC:29867 SLC22A20P solute carrier family 22 member 20, pseudogene pseudogene pseudogene Approved 11q13.1 11q13.1 "Oat6|FLJ16331" SLC22A20 "solute carrier family 22, member 20|solute carrier family 22 member 20" Solute carrier family 22 2173 2007-01-19 2017-09-28 2017-09-28 2020-06-15 440044 ENSG00000197847 OTTHUMG00000165615 DQ053017 NR_033396 A6NK97 "15369770|16478971" MGI:2685809 RGD:1311460 611696 SLC22A20 PGOHUM00000257893 objectId:1037 HGNC:29867 -HGNC:21106 SLC22A23 solute carrier family 22 member 23 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 FLJ22174 C6orf85 "chromosome 6 open reading frame 85|solute carrier family 22, member 23" Solute carrier family 22 2173 2003-05-20 2008-01-11 2015-12-08 2023-01-20 63027 ENSG00000137266 OTTHUMG00000014144 uc003mvm.5 AJ420525 NM_021945 "CCDS34331|CCDS47363|CCDS75389" A1A5C7 17714910 MGI:1920352 RGD:620302 611697 SLC22A23 objectId:1038 HGNC:21106 "ENST00000406686.8|NM_015482.2" -HGNC:28542 SLC22A24 solute carrier family 22 member 24 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "MGC34821|NET46" solute carrier family 22, member 24 Solute carrier family 22 2173 2008-01-11 2015-12-08 2023-01-20 283238 ENSG00000197658 OTTHUMG00000165372 uc021qkp.1 NM_173586 "CCDS76422|CCDS73308" Q8N4F4 17714910 MGI:2442751 RGD:628885 611698 SLC22A24 objectId:1039 HGNC:28542 "ENST00000612278.4|NM_001136506.2" +HGNC:21106 SLC22A23 solute carrier family 22 member 23 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 FLJ22174 C6orf85 "chromosome 6 open reading frame 85|solute carrier family 22, member 23" Solute carrier family 22 2173 2003-05-20 2008-01-11 2015-12-08 2023-01-20 63027 ENSG00000137266 OTTHUMG00000014144 uc003mvm.5 AJ420525 NM_021945 "CCDS34331|CCDS75389|CCDS47363" A1A5C7 17714910 MGI:1920352 RGD:620302 611697 SLC22A23 objectId:1038 HGNC:21106 "ENST00000406686.8|NM_015482.2" +HGNC:28542 SLC22A24 solute carrier family 22 member 24 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "MGC34821|NET46" solute carrier family 22, member 24 Solute carrier family 22 2173 2008-01-11 2015-12-08 2023-01-20 283238 ENSG00000197658 OTTHUMG00000165372 uc021qkp.1 NM_173586 "CCDS73308|CCDS76422" Q8N4F4 17714910 MGI:2442751 RGD:628885 611698 SLC22A24 objectId:1039 HGNC:28542 "ENST00000612278.4|NM_001136506.2" HGNC:32935 SLC22A25 solute carrier family 22 member 25 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "UST6|HIMTP|MGC120420" "MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750|solute carrier family 22, member 25" Solute carrier family 22 2173 2008-01-11 2015-12-08 2023-01-20 387601 ENSG00000196600 OTTHUMG00000165340 uc001nwr.2 AY437532 NM_199352 CCDS31592 Q6T423 17714910 "MGI:2442751|MGI:2385316|MGI:3042283|MGI:3645714|MGI:3605624|MGI:2442750" 610792 SLC22A25 objectId:1040 HGNC:32935 "ENST00000306494.11|NM_199352.6" -HGNC:27091 SLC22A31 solute carrier family 22 member 31 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 solute carrier family 22, member 31 Solute carrier family 22 2173 2011-07-12 2015-12-08 2023-01-20 146429 ENSG00000259803 OTTHUMG00000175615 uc021tmr.1 NM_001242757 "CCDS73927|CCDS92209" A6NKX4 SLC22A31 objectId:2557 HGNC:27091 "ENST00000682282.1|NM_001384763.1" -HGNC:10974 SLC23A1 solute carrier family 23 member 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "YSPL3|SVCT1" SLC23A2 "solute carrier family 23 (nucleobase transporters), member 2|solute carrier family 23 (ascorbic acid transporter), member 1" Solute carrier family 23 2174 1998-10-23 2003-03-21 2016-02-17 2023-01-20 9963 ENSG00000170482 OTTHUMG00000129228 uc003leg.4 AF058317 NM_152685 "CCDS4213|CCDS4212" Q9UHI7 "9804989|10331392" MGI:1341903 RGD:619875 603790 SLC23A1 objectId:1041 HGNC:10974 "ENST00000348729.8|NM_005847.5" +HGNC:27091 SLC22A31 solute carrier family 22 member 31 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 solute carrier family 22, member 31 Solute carrier family 22 2173 2011-07-12 2015-12-08 2023-01-20 146429 ENSG00000259803 OTTHUMG00000175615 uc021tmr.1 NM_001242757 "CCDS92209|CCDS73927" A6NKX4 SLC22A31 objectId:2557 HGNC:27091 "ENST00000682282.1|NM_001384763.1" +HGNC:10974 SLC23A1 solute carrier family 23 member 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "YSPL3|SVCT1" SLC23A2 "solute carrier family 23 (nucleobase transporters), member 2|solute carrier family 23 (ascorbic acid transporter), member 1" Solute carrier family 23 2174 1998-10-23 2003-03-21 2016-02-17 2023-01-20 9963 ENSG00000170482 OTTHUMG00000129228 uc003leg.4 AF058317 NM_152685 "CCDS4212|CCDS4213" Q9UHI7 "9804989|10331392" MGI:1341903 RGD:619875 603790 SLC23A1 objectId:1041 HGNC:10974 "ENST00000348729.8|NM_005847.5" HGNC:10973 SLC23A2 solute carrier family 23 member 2 protein-coding gene gene with protein product Approved 20p13 20p13 "SVCT2|KIAA0238|YSPL2" SLC23A1 "solute carrier family 23 (nucleobase transporters), member 1|solute carrier family 23 (ascorbic acid transporter), member 2" Solute carrier family 23 2174 1999-08-13 2003-03-21 2016-02-17 2023-01-20 9962 ENSG00000089057 OTTHUMG00000031793 uc002wlh.1 AF058319 NM_005116 CCDS13085 Q9UGH3 "9804989|10331392" MGI:1859682 RGD:619876 603791 SLC23A2 objectId:1042 HGNC:10973 "ENST00000338244.6|NM_005116.6" -HGNC:20601 SLC23A3 solute carrier family 23 member 3 protein-coding gene gene with protein product Approved 2q35 02q35 "SVCT3|FLJ31168|Yspl1" solute carrier family 23, member 3 Solute carrier family 23 2174 2003-03-17 2015-12-08 2023-01-20 151295 ENSG00000213901 OTTHUMG00000154616 uc010zkr.3 BC030243 NM_144712 "CCDS46517|CCDS46518|CCDS42819" Q6PIS1 MGI:104516 RGD:1307402 620339 SLC23A3 objectId:1043 HGNC:20601 "ENST00000409878.8|NM_001144889.2" +HGNC:20601 SLC23A3 solute carrier family 23 member 3 protein-coding gene gene with protein product Approved 2q35 02q35 "SVCT3|FLJ31168|Yspl1" solute carrier family 23, member 3 Solute carrier family 23 2174 2003-03-17 2015-12-08 2023-01-20 151295 ENSG00000213901 OTTHUMG00000154616 uc010zkr.3 BC030243 NM_144712 "CCDS42819|CCDS46518|CCDS46517" Q6PIS1 MGI:104516 RGD:1307402 620339 SLC23A3 objectId:1043 HGNC:20601 "ENST00000409878.8|NM_001144889.2" HGNC:20602 SLC23A4P solute carrier family 23 member 4, pseudogene pseudogene pseudogene Approved 7q33 07q33 SLC23A4 "solute carrier family 23 (nucleobase transporters), member 4|solute carrier family 23 (nucleobase transporters), member 4, pseudogene" Solute carrier family 23 2174 2003-03-24 2011-07-15 2016-02-17 2020-04-20 641842 ENSG00000276067 OTTHUMG00000187701 NG_006548 20042597 MGI:1917272 SLC23A4P PGOHUM00000263173 objectId:1044 HGNC:20602 -HGNC:10975 SLC24A1 solute carrier family 24 member 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "NCKX1|NCKX|RODX|KIAA0702|HsT17412|CSNB1D" "Na/Ca-K exchanger 1|retinal rod Na+/Ca+/K+ exchanger" solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 Solute carrier family 24 2175 1999-02-18 2016-02-17 2023-01-20 9187 ENSG00000074621 OTTHUMG00000167960 uc010ujf.2 AF062922 NM_004727 "CCDS92023|CCDS73743|CCDS73742|CCDS73744|CCDS45284" O60721 "9856482|26631410|26822852" MGI:2384871 RGD:620080 603617 SLC24A1 244378 objectId:1045 HGNC:10975 "ENST00000261892.11|NM_004727.3" HGNC:10975 +HGNC:10975 SLC24A1 solute carrier family 24 member 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "NCKX1|NCKX|RODX|KIAA0702|HsT17412|CSNB1D" "Na/Ca-K exchanger 1|retinal rod Na+/Ca+/K+ exchanger" solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 Solute carrier family 24 2175 1999-02-18 2016-02-17 2023-01-20 9187 ENSG00000074621 OTTHUMG00000167960 uc010ujf.2 AF062922 NM_004727 "CCDS73743|CCDS45284|CCDS73744|CCDS92023|CCDS73742" O60721 "9856482|26631410|26822852" MGI:2384871 RGD:620080 603617 SLC24A1 244378 objectId:1045 HGNC:10975 "ENST00000261892.11|NM_004727.3" HGNC:10975 HGNC:10976 SLC24A2 solute carrier family 24 member 2 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 NCKX2 Na/Ca-K exchanger 2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 Solute carrier family 24 2175 1999-02-18 2016-02-17 2023-01-20 25769 ENSG00000155886 OTTHUMG00000019646 uc003zoa.3 AF097366 NM_020344 "CCDS6493|CCDS55297" Q9UI40 10662833 MGI:1923626 RGD:628650 609838 SLC24A2 objectId:1046 HGNC:10976 "ENST00000341998.7|NM_020344.4" HGNC:10977 SLC24A3 solute carrier family 24 member 3 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 Solute carrier family 24 2175 2000-07-31 2016-02-17 2023-01-20 57419 ENSG00000185052 OTTHUMG00000031993 uc002wrl.4 AF169257 NM_020689 CCDS13140 Q9HC58 MGI:2137513 RGD:69256 609839 SLC24A3 objectId:1047 HGNC:10977 "ENST00000328041.11|NM_020689.4" HGNC:40540 SLC24A3-AS1 SLC24A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 Antisense RNAs 1987 2020-03-26 2020-03-26 2020-03-26 2020-03-26 100130264 ENSG00000179447 OTTHUMG00000031990 NR_024564 -HGNC:10978 SLC24A4 solute carrier family 24 member 4 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 NCKX4 Na/Ca-K exchanger 4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 Solute carrier family 24 2175 2000-09-01 2016-02-17 2023-01-20 123041 ENSG00000140090 OTTHUMG00000167589 uc001yak.4 AF520704 NM_153646 "CCDS45155|CCDS45156|CCDS9903" Q8NFF2 "12379639|26631410|23375655" MGI:2447362 RGD:1305926 609840 SLC24A4 328699 objectId:1048 HGNC:10978 "ENST00000532405.6|NM_153646.4" HGNC:10978 +HGNC:10978 SLC24A4 solute carrier family 24 member 4 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 NCKX4 Na/Ca-K exchanger 4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 Solute carrier family 24 2175 2000-09-01 2016-02-17 2023-01-20 123041 ENSG00000140090 OTTHUMG00000167589 uc001yak.4 AF520704 NM_153646 "CCDS9903|CCDS45156|CCDS45155" Q8NFF2 "12379639|26631410|23375655" MGI:2447362 RGD:1305926 609840 SLC24A4 328699 objectId:1048 HGNC:10978 "ENST00000532405.6|NM_153646.4" HGNC:10978 HGNC:20611 SLC24A5 solute carrier family 24 member 5 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "JSX|OCA6|NCKX5" "oculocutaneous albinism 6 (autosomal recessive)|Na/Ca-K exchanger 5" "solute carrier family 24, member 5|solute carrier family 24 (sodium/potassium/calcium exchanger), member 5" Solute carrier family 24 2175 2003-03-12 2016-02-17 2023-01-20 283652 ENSG00000188467 OTTHUMG00000131494 uc001zwe.4 AF348468 NM_205850 CCDS10128 Q71RS6 "23364476|18166528" MGI:2677271 RGD:1310565 609802 SLC24A5 371844 objectId:1049 HGNC:20611 "ENST00000341459.8|NM_205850.3" HGNC:20611 HGNC:10979 SLC25A1 solute carrier family 25 member 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "CTP|CIC" "Tricarboxylate transport protein, mitochondrial|citrate isocitrate carrier|citrate transport protein" SLC20A3 "solute carrier family 20 (mitochondrial citrate transporter), member 3|solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1" Solute carrier family 25 2176 1996-08-01 2016-02-18 2023-01-20 6576 ENSG00000100075 OTTHUMG00000150123 uc002zoz.6 U25147 NM_005984 "CCDS74817|CCDS13758" P53007 "8666394|9254007|26870663|29031613" MGI:1345283 RGD:3703 190315 SLC25A1 358443 objectId:1051 HGNC:10979 "ENST00000215882.10|NM_005984.5" HGNC:10979 HGNC:43845 SLC25A1P1 solute carrier family 25 member 1 pseudogene 1 pseudogene pseudogene Approved 11q14.2 11q14.2 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 1 2012-03-29 2016-02-18 2016-02-18 100131457 ENSG00000254479 OTTHUMG00000166980 NG_021826 SLC25A1P1 PGOHUM00000242831 HGNC:43845 @@ -35663,11 +35666,11 @@ HGNC:43852 SLC25A6P3 solute carrier family 25 member 6 pseudogene 3 pseudogene p HGNC:43853 SLC25A6P4 solute carrier family 25 member 6 pseudogene 4 pseudogene pseudogene Approved 18q23 18q23 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 4 2012-03-29 2016-02-18 2016-02-18 100422690 ENSG00000266909 OTTHUMG00000180378 NG_026343 SLC25A6P4 PGOHUM00000235103 HGNC:43853 HGNC:43854 SLC25A6P5 solute carrier family 25 member 6 pseudogene 5 pseudogene pseudogene Approved 9q31.2 09q31.2 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 5 2012-03-29 2016-02-18 2016-02-18 100129319 ENSG00000228948 OTTHUMG00000020431 NG_021673 SLC25A6P5 PGOHUM00000236747 HGNC:43854 HGNC:43855 SLC25A6P6 solute carrier family 25 member 6 pseudogene 6 pseudogene pseudogene Approved 6q13 06q13 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 6 2012-03-29 2016-02-18 2016-02-18 100128312 ENSG00000218870 OTTHUMG00000014994 NG_022309 SLC25A6P6 PGOHUM00000243242 HGNC:43855 -HGNC:10980 SLC25A10 solute carrier family 25 member 10 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 DIC solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 Solute carrier family 25 2176 1998-07-08 2016-02-18 2023-01-20 1468 ENSG00000183048 OTTHUMG00000178173 uc002kbi.5 NM_001270888 "CCDS59301|CCDS11786|CCDS74176" Q9UBX3 "9733776|10072589" MGI:1353497 RGD:621430 606794 SLC25A10 objectId:1052 HGNC:10980 "ENST00000350690.10|NM_012140.5" HGNC:10980 -HGNC:10981 SLC25A11 solute carrier family 25 member 11 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 OGC SLC20A4 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 Solute carrier family 25 2176 1998-09-18 2016-02-18 2023-01-20 8402 ENSG00000108528 OTTHUMG00000099395 uc002fzo.3 X66114 NM_003562 "CCDS54069|CCDS11059" Q02978 "10072597|1457818" MGI:1915113 RGD:708476 604165 SLC25A11 objectId:1053 HGNC:10981 "ENST00000225665.12|NM_003562.5" HGNC:10981 +HGNC:10980 SLC25A10 solute carrier family 25 member 10 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 DIC solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 Solute carrier family 25 2176 1998-07-08 2016-02-18 2023-01-20 1468 ENSG00000183048 OTTHUMG00000178173 uc002kbi.5 NM_001270888 "CCDS74176|CCDS11786|CCDS59301" Q9UBX3 "9733776|10072589" MGI:1353497 RGD:621430 606794 SLC25A10 objectId:1052 HGNC:10980 "ENST00000350690.10|NM_012140.5" HGNC:10980 +HGNC:10981 SLC25A11 solute carrier family 25 member 11 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 OGC SLC20A4 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 Solute carrier family 25 2176 1998-09-18 2016-02-18 2023-01-20 8402 ENSG00000108528 OTTHUMG00000099395 uc002fzo.3 X66114 NM_003562 "CCDS11059|CCDS54069" Q02978 "10072597|1457818" MGI:1915113 RGD:708476 604165 SLC25A11 objectId:1053 HGNC:10981 "ENST00000225665.12|NM_003562.5" HGNC:10981 HGNC:10982 SLC25A12 solute carrier family 25 member 12 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "Aralar|aralar1|AGC1" "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial|aspartate/glutamate carrier 1" "solute carrier family 25 (mitochondrial carrier, Aralar), member 12|solute carrier family 25 (aspartate/glutamate carrier), member 12" "EF-hand domain containing|Solute carrier family 25" "863|2176" 1999-01-28 2016-02-18 2023-01-20 8604 ENSG00000115840 OTTHUMG00000134290 uc002uhh.4 Y14494 NM_003705 CCDS33327 O75746 "9722566|10702666|11566871|20015484" MGI:1926080 RGD:1305181 603667 SLC25A12 356212 objectId:1054 HGNC:10982 "ENST00000422440.7|NM_003705.5" HGNC:10982 HGNC:10983 SLC25A13 solute carrier family 25 member 13 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "CITRIN|ARALAR2" "mitochondrial aspartate glutamate carrier 2|Calcium-binding mitochondrial carrier protein Aralar2|citrullinemia type II" CTLN2 "solute carrier family 25, member 13 (citrin)|solute carrier family 25 (aspartate/glutamate carrier), member 13" "EF-hand domain containing|MicroRNA protein coding host genes|Solute carrier family 25" "863|1691|2176" 1999-07-13 2016-02-18 2023-01-20 10165 ENSG00000004864 OTTHUMG00000023074 uc003uof.5 AF118838 NM_014251 "CCDS55130|CCDS5645" Q9UJS0 "10369257|11793471" MGI:1354721 RGD:1565889 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A13 603859 SLC25A13 118786 objectId:1055 HGNC:10983 "ENST00000265631.10|NM_014251.3" HGNC:10983 -HGNC:10984 SLC25A14 solute carrier family 25 member 14 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "BMCP1|UCP5" solute carrier family 25 (mitochondrial carrier, brain), member 14 Solute carrier family 25 2176 1999-02-09 2016-02-18 2023-01-20 9016 ENSG00000102078 OTTHUMG00000022394 uc033eva.1 AF078544 "NM_022810|NM_003951" "CCDS76021|CCDS76020|CCDS14624|CCDS14623" O95258 9852133 MGI:1330823 RGD:621433 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A14 300242 SLC25A14 objectId:1070 HGNC:10984 "ENST00000545805.6|NM_001282195.2" +HGNC:10984 SLC25A14 solute carrier family 25 member 14 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "BMCP1|UCP5" solute carrier family 25 (mitochondrial carrier, brain), member 14 Solute carrier family 25 2176 1999-02-09 2016-02-18 2023-01-20 9016 ENSG00000102078 OTTHUMG00000022394 uc033eva.1 AF078544 "NM_022810|NM_003951" "CCDS14623|CCDS14624|CCDS76021|CCDS76020" O95258 9852133 MGI:1330823 RGD:621433 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A14 300242 SLC25A14 objectId:1070 HGNC:10984 "ENST00000545805.6|NM_001282195.2" HGNC:43856 SLC25A14P1 solute carrier family 25 member 14 pseudogene 1 pseudogene pseudogene Approved 4q21.23 04q21.23 solute carrier family 25 (mitochondrial carrier, brain), member 14 pseudogene 1 2012-03-29 2016-02-18 2016-02-18 100288343 ENSG00000213608 OTTHUMG00000161154 NG_030222 SLC25A14P1 PGOHUM00000245987 HGNC:43856 HGNC:10985 SLC25A15 solute carrier family 25 member 15 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "ORC1|D13S327" "ornithine transporter 1|ornithine carrier 1|Mitochondrial ornithine transporter 1" "ORNT1|HHH" "solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15|hyperammonemia-hyperornithinemia-homocitrullinuria syndrome" "MicroRNA protein coding host genes|Solute carrier family 25" "1691|2176" 1999-06-28 2016-02-18 2023-01-20 10166 ENSG00000102743 OTTHUMG00000016776 uc001uxn.4 AF112968 NM_014252 CCDS9373 Q9Y619 "10369256|12807890|19242930" MGI:1342274 RGD:1311488 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A15 603861 SLC25A15 118789 objectId:1060 HGNC:10985 "ENST00000338625.9|NM_014252.4" HGNC:10985 HGNC:18497 SLC25A15P1 solute carrier family 25 member 15 pseudogene 1 pseudogene pseudogene Approved Yq11.23 Yq11.23 SLC25A15PY1 solute carrier family 25 member 15 pseudogene, Y-linked 1 SLC25A15P "solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 Y-linked pseudogene|solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 1" 2002-05-22 2010-02-24 2016-02-18 2016-10-05 100422624 ENSG00000227629 OTTHUMG00000036811 NG_024787 SLC25A15P1 PGOHUM00000233886 HGNC:18497 @@ -35682,21 +35685,21 @@ HGNC:43857 SLC25A18P1 solute carrier family 25 member 18 pseudogene 1 pseudogene HGNC:14409 SLC25A19 solute carrier family 25 member 19 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "DNC|MUP1|TPC" "Mitochondrial thiamine pyrophosphate carrier|Deoxynucleotide carrier|mitochondrial uncoupling protein 1" MCPHA "solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19|microcephaly, Amish|solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19" Solute carrier family 25 2176 2001-09-27 2016-02-18 2023-01-20 60386 ENSG00000125454 OTTHUMG00000179607 uc002jnt.5 NM_021734 CCDS11720 Q9HC21 "11474176|11226231|19798730" MGI:1914533 RGD:1359554 606521 SLC25A19 118794 objectId:1073 HGNC:14409 "ENST00000416858.7|NM_001126121.2" HGNC:14409 HGNC:1421 SLC25A20 solute carrier family 25 member 20 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 CAC "carnitine-acylcarnitine carrier|carnitine/acylcarnitine translocase|Mitochondrial carnitine/acylcarnitine carrier protein" CACT solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 Solute carrier family 25 2176 1997-08-18 2016-02-18 2023-01-20 788 ENSG00000178537 OTTHUMG00000133538 uc003cva.5 Y10319 NM_000387 CCDS2779 O43772 "9399886|9533014|15365988" MGI:1928738 RGD:621443 613698 SLC25A20 118799 objectId:1076 HGNC:1421 "ENST00000319017.5|NM_000387.6" HGNC:1421 HGNC:1422 SLC25A20P1 solute carrier family 25 member 20 pseudogene 1 pseudogene pseudogene Approved 6p12.2 06p12.2 "CACTP|SLC25A20P" "solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene|solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene 1" 1997-10-27 2010-02-24 2016-02-18 2016-10-05 789 ENSG00000218363 OTTHUMG00000014843 AJ000401 XM_167131 SLC25A20P1 PGOHUM00000243639 HGNC:1422 -HGNC:14411 SLC25A21 solute carrier family 25 member 21 protein-coding gene gene with protein product Approved 14q13.3 14q13.3 "ODC1|ODC" "solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21|solute carrier family 25 (mitochondrial oxoadipate carrier), member 21" "MicroRNA protein coding host genes|Solute carrier family 25" "1691|2176" 2001-01-18 2016-02-18 2023-01-20 89874 ENSG00000183032 OTTHUMG00000140250 uc001wtz.3 AJ278148 NM_030631 "CCDS9663|CCDS55913" Q9BQT8 11083877 MGI:2445059 RGD:621444 607571 SLC25A21 470814 objectId:1057 HGNC:14411 "ENST00000331299.6|NM_030631.4" HGNC:14411 +HGNC:14411 SLC25A21 solute carrier family 25 member 21 protein-coding gene gene with protein product Approved 14q13.3 14q13.3 "ODC1|ODC" "solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21|solute carrier family 25 (mitochondrial oxoadipate carrier), member 21" "MicroRNA protein coding host genes|Solute carrier family 25" "1691|2176" 2001-01-18 2016-02-18 2023-01-20 89874 ENSG00000183032 OTTHUMG00000140250 uc001wtz.3 AJ278148 NM_030631 "CCDS55913|CCDS9663" Q9BQT8 11083877 MGI:2445059 RGD:621444 607571 SLC25A21 470814 objectId:1057 HGNC:14411 "ENST00000331299.6|NM_030631.4" HGNC:14411 HGNC:44298 SLC25A21-AS1 SLC25A21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q13.3 14q13.3 Antisense RNAs 1987 2013-05-29 2016-09-26 100129794 ENSG00000258708 OTTHUMG00000170737 NR_033240 SLC25A21-AS1 HGNC:44298 HGNC:19954 SLC25A22 solute carrier family 25 member 22 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "GC1|FLJ13044|NET44|EIEE3|GC-1" Early infantile epileptic encephalopathy 3 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 Solute carrier family 25 2176 2002-12-10 2016-02-18 2023-01-20 79751 ENSG00000177542 OTTHUMG00000133310 uc001lrj.4 AJ428202 NM_001191060 CCDS7715 Q9H936 "11897791|33821742" MGI:1915517 RGD:1307826 609302 SLC25A22 118803 objectId:1058 HGNC:19954 "ENST00000628067.3|NM_001191061.2" HGNC:19954 HGNC:19375 SLC25A23 solute carrier family 25 member 23 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLJ30339|MGC2615|APC2" solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 "EF-hand domain containing|Solute carrier family 25" "863|2176" 2004-05-05 2016-02-18 2023-01-20 79085 ENSG00000125648 OTTHUMG00000180852 uc002mex.2 AJ619962 NM_024103 CCDS32882 Q9BV35 15123600 MGI:1914222 RGD:1588586 608746 SLC25A23 objectId:1078 HGNC:19375 "ENST00000301454.9|NM_024103.3" HGNC:20662 SLC25A24 solute carrier family 25 member 24 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "DKFZp586G0123|APC1|SCAMC1|SCAMC-1" "ATP-Mg/P(i) co-transporter 1|Calcium-binding mitochondrial carrier protein SCaMC-1|small calcium-binding mitochondrial carrier protein 1" solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 "EF-hand domain containing|Solute carrier family 25" "863|2176" 2004-05-05 2016-02-18 2023-01-20 29957 ENSG00000085491 OTTHUMG00000011013 uc001dvn.6 AJ619961 NM_013386 "CCDS41361|CCDS786" Q6NUK1 "15123600|29100093" MGI:1917160 RGD:1311982 608744 SLC25A24 objectId:1077 HGNC:20662 "ENST00000565488.6|NM_013386.5" HGNC:20662 HGNC:48933 SLC25A24P1 SLC25A24 pseudogene 1 pseudogene pseudogene Approved 1p13.3 01p13.3 2013-07-15 2013-07-15 727941 ENSG00000241361 OTTHUMG00000011320 NG_027806 PGOHUM00000244833 HGNC:48933 HGNC:48934 SLC25A24P2 SLC25A24 pseudogene 2 pseudogene pseudogene Approved 1p13.3 01p13.3 2013-07-15 2013-07-15 100422608 ENSG00000238118 OTTHUMG00000039831 NG_026966 PGOHUM00000244135 HGNC:48934 -HGNC:20663 SLC25A25 solute carrier family 25 member 25 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KIAA1896|PCSCL|MCSC" solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 "EF-hand domain containing|Solute carrier family 25" "863|2176" 2004-05-05 2016-02-18 2023-03-15 114789 ENSG00000148339 OTTHUMG00000020736 uc004bte.5 AJ619963 NM_052901 "CCDS35151|CCDS59146|CCDS48031|CCDS6890|CCDS83420" Q6KCM7 15123600 MGI:1915913 RGD:628666 608745 SLC25A25 objectId:1079 HGNC:20663 "ENST00000373069.10|NM_001330988.2" +HGNC:20663 SLC25A25 solute carrier family 25 member 25 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KIAA1896|PCSCL|MCSC" solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 "EF-hand domain containing|Solute carrier family 25" "863|2176" 2004-05-05 2016-02-18 2023-03-15 114789 ENSG00000148339 OTTHUMG00000020736 uc004bte.5 AJ619963 NM_052901 "CCDS48031|CCDS6890|CCDS59146|CCDS83420|CCDS35151" Q6KCM7 15123600 MGI:1915913 RGD:628666 608745 SLC25A25 objectId:1079 HGNC:20663 "ENST00000373069.10|NM_001330988.2" HGNC:27844 SLC25A25-AS1 SLC25A25 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 HRCEG HDAC1 regulated RNA affecting cell proliferation and EMT transition in gastric cancer Antisense RNAs 1987 2014-08-01 2020-01-30 100289019 ENSG00000234771 OTTHUMG00000020737 "AL833509|BU623777|CA447407" NR_033374 "27553025|31964588" SLC25A25-AS1 HGNC:27844 -HGNC:20661 SLC25A26 solute carrier family 25 member 26 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 SAMC S-adenosylmethionine mitochondrial carrier protein "solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26|solute carrier family 25 (S-adenosylmethionine carrier), member 26" Solute carrier family 25 2176 2003-12-22 2016-02-18 2023-01-20 115286 ENSG00000144741 OTTHUMG00000149917 uc011bfq.2 AJ580932 NM_173471 "CCDS54604|CCDS2905|CCDS93307|CCDS93306" Q70HW3 "14674884|34375635" MGI:1914832 RGD:1308811 611037 SLC25A26 476887 objectId:1074 HGNC:20661 "ENST00000354883.11|NM_001379210.1" HGNC:20661 +HGNC:20661 SLC25A26 solute carrier family 25 member 26 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 SAMC S-adenosylmethionine mitochondrial carrier protein "solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26|solute carrier family 25 (S-adenosylmethionine carrier), member 26" Solute carrier family 25 2176 2003-12-22 2016-02-18 2023-01-20 115286 ENSG00000144741 OTTHUMG00000149917 uc011bfq.2 AJ580932 NM_173471 "CCDS54604|CCDS93307|CCDS93306|CCDS2905" Q70HW3 "14674884|34375635" MGI:1914832 RGD:1308811 611037 SLC25A26 476887 objectId:1074 HGNC:20661 "ENST00000354883.11|NM_001379210.1" HGNC:20661 HGNC:21065 SLC25A27 solute carrier family 25 member 27 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "UCP4|FLJ33552" solute carrier family 25, member 27 Solute carrier family 25 2176 2003-10-08 2015-12-08 2023-01-20 9481 ENSG00000153291 OTTHUMG00000014786 uc003oyh.4 AK090871 NM_004277 "CCDS43470|CCDS56431" O95847 "10025957|10772343" MGI:1921261 RGD:620787 613725 SLC25A27 objectId:1069 HGNC:21065 "ENST00000371347.10|NM_004277.5" HGNC:23472 SLC25A28 solute carrier family 25 member 28 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "MRS3/4|MRS4L" mitoferrin 2 "solute carrier family 25, member 28|solute carrier family 25 (mitochondrial iron transporter), member 28" Solute carrier family 25 2176 2003-11-19 2016-02-18 2023-01-20 81894 ENSG00000155287 OTTHUMG00000018886 uc001kpx.3 AF327402 NM_031212 CCDS41559 Q96A46 11297739 MGI:2180509 RGD:1584155 609767 SLC25A28 objectId:1080 HGNC:23472 "ENST00000370495.6|NM_031212.4" HGNC:55979 SLC25A28-DT SLC25A28 divergent transcript non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 Divergent transcripts 1990 2021-11-12 2021-11-12 123466211 ENSG00000260475 HGNC:20116 SLC25A29 solute carrier family 25 member 29 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 FLJ38975 C14orf69 "chromosome 14 open reading frame 69|solute carrier family 25, member 29|solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29" Solute carrier family 25 2176 2002-12-18 2004-01-21 2016-02-18 2023-03-15 123096 ENSG00000197119 OTTHUMG00000171569 uc001yha.4 AK095532 NM_001039355 CCDS32156 Q8N8R3 MGI:2444911 RGD:1308104 615064 SLC25A29 objectId:1081 HGNC:20116 "ENST00000359232.8|NM_001039355.3" -HGNC:27371 SLC25A30 solute carrier family 25 member 30 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 solute carrier family 25, member 30 Solute carrier family 25 2176 2004-05-06 2015-12-08 2023-01-20 253512 ENSG00000174032 OTTHUMG00000016853 uc001vag.5 AK074457 NM_001010875 "CCDS31967|CCDS66539" Q5SVS4 MGI:1914804 RGD:1359702 610793 SLC25A30 objectId:1082 HGNC:27371 "ENST00000519676.6|NM_001010875.4" +HGNC:27371 SLC25A30 solute carrier family 25 member 30 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 solute carrier family 25, member 30 Solute carrier family 25 2176 2004-05-06 2015-12-08 2023-01-20 253512 ENSG00000174032 OTTHUMG00000016853 uc001vag.5 AK074457 NM_001010875 "CCDS66539|CCDS31967" Q5SVS4 MGI:1914804 RGD:1359702 610793 SLC25A30 objectId:1082 HGNC:27371 "ENST00000519676.6|NM_001010875.4" HGNC:42795 SLC25A30-AS1 SLC25A30 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.13 13q14.13 SLC25A30 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-16 2012-08-15 2014-11-19 100874259 ENSG00000251015 OTTHUMG00000163473 uc058wvj.1 NR_047031 SLC25A30-AS1 HGNC:42795 HGNC:25319 SLC25A31 solute carrier family 25 member 31 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "DKFZP434N1235|ANT4" solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 Solute carrier family 25 2176 2005-02-15 2016-02-18 2023-01-20 83447 ENSG00000151475 OTTHUMG00000133300 uc003ifl.4 AL136857 NM_031291 CCDS3733 Q9H0C2 15670820 MGI:1920583 RGD:1596195 610796 SLC25A31 objectId:1065 HGNC:25319 "ENST00000281154.6|NM_031291.4" HGNC:29683 SLC25A32 solute carrier family 25 member 32 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 MFTC "solute carrier family 25, member 32|solute carrier family 25 (mitochondrial folate carrier), member 32" Solute carrier family 25 2176 2005-10-03 2016-02-18 2023-01-20 81034 ENSG00000164933 OTTHUMG00000164790 uc003yll.5 AF283645 NM_030780 CCDS6300 Q9H2D1 10978331 MGI:1917156 RGD:1565789 138480 SLC25A32 471076 objectId:1083 HGNC:29683 "ENST00000297578.9|NM_030780.5" HGNC:29683 @@ -35704,7 +35707,7 @@ HGNC:29681 SLC25A33 solute carrier family 25 member 33 protein-coding gene gene HGNC:27653 SLC25A34 solute carrier family 25 member 34 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 DKFZp781A10161 solute carrier family 25, member 34 Solute carrier family 25 2176 2005-06-03 2015-12-08 2023-01-20 284723 ENSG00000162461 OTTHUMG00000003063 uc001axb.2 BC027998 NM_207348 CCDS162 Q6PIV7 MGI:2686215 RGD:1359157 610817 SLC25A34 objectId:1085 HGNC:27653 "ENST00000294454.6|NM_207348.3" HGNC:53623 SLC25A34-AS1 SLC25A34 and TMEM82 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 RP11-169K16.4 Antisense RNAs 1987 2017-07-26 2017-07-26 110806303 ENSG00000224459 OTTHUMG00000003078 NR_149050 28706138 HGNC:53623 HGNC:31921 SLC25A35 solute carrier family 25 member 35 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ40217 solute carrier family 25, member 35 Solute carrier family 25 2176 2005-06-03 2015-12-08 2023-01-20 399512 ENSG00000125434 OTTHUMG00000178480 uc002gla.5 AY498866 NM_201520 "CCDS82067|CCDS11138" Q3KQZ1 MGI:1919248 RGD:1598229 610818 SLC25A35 objectId:1086 HGNC:31921 "ENST00000577745.2|NM_001320870.2" -HGNC:25554 SLC25A36 solute carrier family 25 member 36 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ10618|PNC2" "solute carrier family 25, member 36|solute carrier family 25 (pyrimidine nucleotide carrier), member 36" Solute carrier family 25 2176 2005-06-03 2016-02-18 2023-01-20 55186 ENSG00000114120 OTTHUMG00000160260 uc003ets.3 AK001480 NM_018155 "CCDS3114|CCDS46927" Q96CQ1 MGI:1924909 RGD:1591928 616149 SLC25A36 objectId:1087 HGNC:25554 "ENST00000324194.12|NM_001104647.3" +HGNC:25554 SLC25A36 solute carrier family 25 member 36 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ10618|PNC2" "solute carrier family 25, member 36|solute carrier family 25 (pyrimidine nucleotide carrier), member 36" Solute carrier family 25 2176 2005-06-03 2016-02-18 2023-01-20 55186 ENSG00000114120 OTTHUMG00000160260 uc003ets.3 AK001480 NM_018155 "CCDS46927|CCDS3114" Q96CQ1 MGI:1924909 RGD:1591928 616149 SLC25A36 objectId:1087 HGNC:25554 "ENST00000324194.12|NM_001104647.3" HGNC:48935 SLC25A36P1 SLC25A36 pseudogene 1 pseudogene pseudogene Approved 19q13.43 19q13.43 2013-07-15 2013-07-15 106480240 ENSG00000267781 OTTHUMG00000182175 NG_043810 PGOHUM00000234803 HGNC:48935 HGNC:29786 SLC25A37 solute carrier family 25 member 37 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "MSCP|MFRN|MFRN1|HT015" "mitoferrin|Mitoferrin-1|Mitochondrial iron transporter 1|Mitochondrial solute carrier protein" "solute carrier family 25, member 37|solute carrier family 25 (mitochondrial iron transporter), member 37" Solute carrier family 25 2176 2005-06-03 2016-02-18 2023-01-20 51312 ENSG00000147454 OTTHUMG00000163865 uc003xds.4 AF495725 NM_016612 CCDS47828 Q9NYZ2 16511496 MGI:1914962 RGD:1359361 610387 SLC25A37 objectId:1088 HGNC:29786 "ENST00000519973.6|NM_016612.4" HGNC:26054 SLC25A38 solute carrier family 25 member 38 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ20551 Mitochondrial glycine transporter solute carrier family 25, member 38 Solute carrier family 25 2176 2006-09-21 2015-12-08 2023-01-20 54977 ENSG00000144659 OTTHUMG00000131289 uc003cjo.3 BC013194 NM_017875 CCDS2685 Q96DW6 "16949250|27476175|34298585" MGI:2384782 RGD:1311914 LRG_1133|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1133.xml 610819 SLC25A38 200717 objectId:1089 HGNC:26054 "ENST00000650617.1|NM_017875.4" HGNC:26054 @@ -35717,11 +35720,11 @@ HGNC:28533 SLC25A41 solute carrier family 25 member 41 protein-coding gene gene HGNC:28380 SLC25A42 solute carrier family 25 member 42 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MGC26694 Mitochondrial coenzyme A transporter solute carrier family 25, member 42 Solute carrier family 25 2176 2006-09-21 2015-12-08 2023-01-20 284439 ENSG00000181035 OTTHUMG00000183280 uc002nlf.5 NM_178526 CCDS32966 Q86VD7 "16949250|19429682|29327420" MGI:1920345 RGD:1592346 610823 SLC25A42 objectId:1075 HGNC:28380 "ENST00000318596.8|NM_178526.5" HGNC:28380 HGNC:30557 SLC25A43 solute carrier family 25 member 43 protein-coding gene gene with protein product Approved Xq24 Xq24 solute carrier family 25, member 43 Solute carrier family 25 2176 2006-09-21 2015-12-08 2023-01-20 203427 ENSG00000077713 OTTHUMG00000022272 uc004erd.4 BC019584 NM_145305 CCDS14577 Q8WUT9 16949250 MGI:2684854 RGD:1559928 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A43 300641 SLC25A43 objectId:1093 HGNC:30557 "ENST00000217909.8|NM_145305.3" HGNC:29036 SLC25A44 solute carrier family 25 member 44 protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ90431|KIAA0446" solute carrier family 25, member 44 Solute carrier family 25 2176 2006-09-21 2015-12-08 2023-01-20 9673 ENSG00000160785 OTTHUMG00000014816 uc001fnp.5 AB007915 NM_014655 "CCDS72943|CCDS1133" Q96H78 16949250 MGI:2444391 RGD:1307244 610824 SLC25A44 objectId:1094 HGNC:29036 "ENST00000359511.5|NM_014655.4" -HGNC:27442 SLC25A45 solute carrier family 25 member 45 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 solute carrier family 25, member 45 Solute carrier family 25 2176 2006-09-21 2015-12-08 2023-01-20 283130 ENSG00000162241 OTTHUMG00000166255 uc001odr.1 BC041100 NM_182556 "CCDS76431|CCDS41671|CCDS60850|CCDS41670" Q8N413 16949250 MGI:2147731 RGD:1589953 610825 SLC25A45 objectId:1095 HGNC:27442 "ENST00000398802.6|NM_182556.4" +HGNC:27442 SLC25A45 solute carrier family 25 member 45 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 solute carrier family 25, member 45 Solute carrier family 25 2176 2006-09-21 2015-12-08 2023-01-20 283130 ENSG00000162241 OTTHUMG00000166255 uc001odr.1 BC041100 NM_182556 "CCDS76431|CCDS60850|CCDS41670|CCDS41671" Q8N413 16949250 MGI:2147731 RGD:1589953 610825 SLC25A45 objectId:1095 HGNC:27442 "ENST00000398802.6|NM_182556.4" HGNC:25198 SLC25A46 solute carrier family 25 member 46 protein-coding gene gene with protein product Approved 5q22.1 05q22.1 Mitochondrial outer membrane protein solute carrier family 25, member 46 Solute carrier family 25 2176 2006-09-21 2015-12-08 2023-01-20 91137 ENSG00000164209 OTTHUMG00000128794 uc003koz.5 BC017169 NM_138773 "CCDS78045|CCDS4100" Q96AG3 "1651562|1651563|16949250|26168012" MGI:1914703 RGD:1305072 LRG_1091|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1091.xml 610826 SLC25A46 436878 objectId:1096 HGNC:25198 "ENST00000355943.8|NM_138773.4" HGNC:25198 HGNC:20115 SLC25A47 solute carrier family 25 member 47 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 HDCMP HCC down-regulated mitochondrial carrier protein C14orf68 "chromosome 14 open reading frame 68|solute carrier family 25, member 47" Solute carrier family 25 2176 2003-01-13 2010-07-19 2015-12-08 2023-01-20 283600 ENSG00000140107 OTTHUMG00000171571 uc001yhc.4 NM_001350877 "CCDS9959|CCDS86432" Q6Q0C1 "19303656|15322095" MGI:2144766 RGD:1303247 609911 SLC25A47 objectId:2558 HGNC:20115 "ENST00000361529.5|NM_207117.4" HGNC:43860 SLC25A47P1 solute carrier family 25 member 47 pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 2012-03-29 2016-02-18 2016-02-18 105369316 ENSG00000254799 OTTHUMG00000167415 NG_046696 SLC25A47P1 PGOHUM00000261833 HGNC:43860 -HGNC:30451 SLC25A48 solute carrier family 25 member 48 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ44862 solute carrier family 25, member 48 Solute carrier family 25 2176 2010-07-19 2015-12-08 2023-01-20 153328 ENSG00000145832 OTTHUMG00000157007 uc063hex.1 NM_145282 "CCDS87323|CCDS93786|CCDS43366" Q6ZT89 MGI:2145373 RGD:1563703 616150 SLC25A48 objectId:2559 HGNC:30451 "ENST00000681962.1|NM_001349336.2" +HGNC:30451 SLC25A48 solute carrier family 25 member 48 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ44862 solute carrier family 25, member 48 Solute carrier family 25 2176 2010-07-19 2015-12-08 2023-01-20 153328 ENSG00000145832 OTTHUMG00000157007 uc063hex.1 NM_145282 "CCDS93786|CCDS43366|CCDS87323" Q6ZT89 MGI:2145373 RGD:1563703 616150 SLC25A48 objectId:2559 HGNC:30451 "ENST00000681962.1|NM_001349336.2" HGNC:27965 SLC25A48-AS1 SLC25A48 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 LINC01959 long intergenic non-protein coding RNA 1959 Antisense RNAs 1987 2016-12-09 2019-05-17 2019-05-17 2019-05-17 340074 ENSG00000251045 OTTHUMG00000163111 NR_027127 12477932 HGNC:27965 HGNC:23323 SLC25A51 solute carrier family 25 member 51 protein-coding gene gene with protein product Approved 9p13.2-p13.1 09p13.2-p13.1 "MGC14836|CG7943" mitochondrial NAD+ transporter MCART1 "mitochondrial carrier triple repeat 1|solute carrier family 25, member 51" Solute carrier family 25 2176 2003-11-07 2012-03-29 2015-12-08 2023-01-20 92014 ENSG00000122696 OTTHUMG00000019935 uc064tdr.1 BC008500 NM_033412 CCDS6614 Q9H1U9 32906142 MGI:2684984 619153 SLC25A51 objectId:2560 HGNC:23323 "ENST00000242275.7|NM_033412.4" HGNC:23325 SLC25A51P1 SLC25A51 pseudogene 1 pseudogene pseudogene Approved 6q12 06q12 bA707M13.1 MCART3P "mitochondrial carrier triple repeat 3 pseudogene|solute carrier family 25 member 51 pseudogene 1" 2003-11-07 2012-03-29 2019-05-09 2020-04-20 442229 ENSG00000220483 OTTHUMG00000014975 NR_026540 SLC25A51P1 PGOHUM00000243661 HGNC:23325 @@ -35736,30 +35739,30 @@ HGNC:10994 SLC26A2 solute carrier family 26 member 2 protein-coding gene gene wi HGNC:3018 SLC26A3 solute carrier family 26 member 3 protein-coding gene gene with protein product Approved 7q22.3-q31.1 07q22.3-q31.1 Chloride anion exchanger "DRA|CLD" "congenital chloride diarrhea|solute carrier family 26, member 3|solute carrier family 26 (anion exchanger), member 3|down-regulated in adenoma" Solute carrier family 26 2177 1993-04-01 2016-02-17 2023-01-20 1811 ENSG00000091138 OTTHUMG00000154812 uc003ver.3 L02785 NM_000111 CCDS5748 P40879 "8020951|11087667|11524734" MGI:107181 RGD:620623 LRG_683|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_683.xml 126650 SLC26A3 118817 objectId:1099 HGNC:3018 "ENST00000340010.10|NM_000111.3" HGNC:3018 HGNC:8818 SLC26A4 solute carrier family 26 member 4 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 PDS "pendrin|Pendred syndrome" DFNB4 "solute carrier family 26, member 4|solute carrier family 26 (anion exchanger), member 4|deafness, autosomal recessive 4" Solute carrier family 26 2177 1997-10-27 2016-02-17 2023-01-20 5172 ENSG00000091137 OTTHUMG00000154807 uc003vep.4 AF030880 NM_000441 CCDS5746 O43511 "9500541|11087667|10192399" MGI:1346029 RGD:3293 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=SLC26A4" 605646 SLC26A4 118821 objectId:1100 HGNC:8818 "ENST00000644269.2|NM_000441.2" HGNC:8818 HGNC:22385 SLC26A4-AS1 SLC26A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 SLC26A4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-19 286002 ENSG00000233705 OTTHUMG00000154777 uc064gyw.1 BC037315 NR_028137 SLC26A4-AS1 HGNC:22385 -HGNC:9359 SLC26A5 solute carrier family 26 member 5 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 DFNB61 deafness, neurosensory, autosomal recessive, 61 PRES "prestin (motor protein)|solute carrier family 26 (anion exchanger), member 5" Solute carrier family 26 2177 2000-06-08 2005-09-13 2016-02-17 2023-01-20 375611 ENSG00000170615 OTTHUMG00000149911 uc003vbz.4 AC005064 NM_198999 "CCDS43630|CCDS5733|CCDS55150|CCDS43629|CCDS5732" P58743 10821263 MGI:1933154 RGD:69334 604943 SLC26A5 160337 objectId:1104 HGNC:9359 "ENST00000306312.8|NM_198999.3" HGNC:9359 +HGNC:9359 SLC26A5 solute carrier family 26 member 5 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 DFNB61 deafness, neurosensory, autosomal recessive, 61 PRES "prestin (motor protein)|solute carrier family 26 (anion exchanger), member 5" Solute carrier family 26 2177 2000-06-08 2005-09-13 2016-02-17 2023-01-20 375611 ENSG00000170615 OTTHUMG00000149911 uc003vbz.4 AC005064 NM_198999 "CCDS5733|CCDS43629|CCDS55150|CCDS5732|CCDS43630" P58743 10821263 MGI:1933154 RGD:69334 604943 SLC26A5 160337 objectId:1104 HGNC:9359 "ENST00000306312.8|NM_198999.3" HGNC:9359 HGNC:55680 SLC26A5-AS1 SLC26A5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 Antisense RNAs 1987 2021-07-01 2021-07-01 101927870 ENSG00000234715 NR_110141 -HGNC:14472 SLC26A6 solute carrier family 26 member 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 DKFZp586E1422 "pendrin-like protein 1|pendrin L1|sulfate anion transporter|anion transporter 1" "solute carrier family 26, member 6|solute carrier family 26 (anion exchanger), member 6" "MicroRNA protein coding host genes|Solute carrier family 26" "1691|2177" 2001-01-25 2016-02-17 2023-01-20 65010 ENSG00000225697 OTTHUMG00000186381 uc003cuh.4 AF279265 NM_022911 "CCDS46824|CCDS63628|CCDS43087|CCDS63627|CCDS46826|CCDS46825" Q9BXS9 "11087667|11247665" MGI:2159728 RGD:1310197 610068 SLC26A6 objectId:1101 HGNC:14472 "ENST00000395550.7|NM_022911.3" -HGNC:14467 SLC26A7 solute carrier family 26 member 7 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 SUT2 "Anion exchange transporter|sulfate anion transporter 2" "solute carrier family 26, member 7|solute carrier family 26 (anion exchanger), member 7" Solute carrier family 26 2177 2001-01-25 2016-02-17 2023-01-20 115111 ENSG00000147606 OTTHUMG00000164062 uc003yex.5 AF331521 NM_001282356 "CCDS75765|CCDS6255|CCDS6254" Q8TE54 "11834742|11829495|16524946" MGI:2384791 RGD:1310846 608479 SLC26A7 objectId:1102 HGNC:14467 "ENST00000276609.8|NM_052832.4" HGNC:14467 +HGNC:14472 SLC26A6 solute carrier family 26 member 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 DKFZp586E1422 "pendrin-like protein 1|pendrin L1|sulfate anion transporter|anion transporter 1" "solute carrier family 26, member 6|solute carrier family 26 (anion exchanger), member 6" "MicroRNA protein coding host genes|Solute carrier family 26" "1691|2177" 2001-01-25 2016-02-17 2023-01-20 65010 ENSG00000225697 OTTHUMG00000186381 uc003cuh.4 AF279265 NM_022911 "CCDS63628|CCDS46825|CCDS63627|CCDS46824|CCDS46826|CCDS43087" Q9BXS9 "11087667|11247665" MGI:2159728 RGD:1310197 610068 SLC26A6 objectId:1101 HGNC:14472 "ENST00000395550.7|NM_022911.3" +HGNC:14467 SLC26A7 solute carrier family 26 member 7 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 SUT2 "Anion exchange transporter|sulfate anion transporter 2" "solute carrier family 26, member 7|solute carrier family 26 (anion exchanger), member 7" Solute carrier family 26 2177 2001-01-25 2016-02-17 2023-01-20 115111 ENSG00000147606 OTTHUMG00000164062 uc003yex.5 AF331521 NM_001282356 "CCDS6254|CCDS6255|CCDS75765" Q8TE54 "11834742|11829495|16524946" MGI:2384791 RGD:1310846 608479 SLC26A7 objectId:1102 HGNC:14467 "ENST00000276609.8|NM_052832.4" HGNC:14467 HGNC:14468 SLC26A8 solute carrier family 26 member 8 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 TAT1 Testis anion transporter 1 "solute carrier family 26, member 8|solute carrier family 26 (anion exchanger), member 8" Solute carrier family 26 2177 2001-01-25 2016-02-17 2023-01-20 116369 ENSG00000112053 OTTHUMG00000014586 uc003oln.4 AF331522 NM_001193476 "CCDS4814|CCDS4813" Q96RN1 "11834742|11829495|11278976" MGI:2385046 RGD:1308898 608480 SLC26A8 408636 objectId:1105 HGNC:14468 "ENST00000490799.6|NM_052961.4" HGNC:14468 -HGNC:14469 SLC26A9 solute carrier family 26 member 9 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 anion transporter/exchanger-9 "solute carrier family 26, member 9|solute carrier family 26 (anion exchanger), member 9" Solute carrier family 26 2177 2001-01-25 2016-02-17 2023-03-15 115019 ENSG00000174502 OTTHUMG00000036001 uc001hdq.4 AF331525 NM_052934 "CCDS30990|CCDS30989" Q7LBE3 11834742 MGI:2444594 RGD:1310441 608481 SLC26A9 objectId:1103 HGNC:14469 "ENST00000367135.8|NM_052934.4" +HGNC:14469 SLC26A9 solute carrier family 26 member 9 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 anion transporter/exchanger-9 "solute carrier family 26, member 9|solute carrier family 26 (anion exchanger), member 9" Solute carrier family 26 2177 2001-01-25 2016-02-17 2023-03-15 115019 ENSG00000174502 OTTHUMG00000036001 uc001hdq.4 AF331525 NM_052934 "CCDS30989|CCDS30990" Q7LBE3 11834742 MGI:2444594 RGD:1310441 608481 SLC26A9 objectId:1103 HGNC:14469 "ENST00000367135.8|NM_052934.4" HGNC:40686 SLC26A9-AS1 SLC26A9 and RAB7B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2018-09-26 2018-09-26 103021296 NR_110983 HGNC:40686 HGNC:14470 SLC26A10P solute carrier family 26 member 10, pseudogene pseudogene pseudogene Approved 12q13.3 12q13.3 SLC26A10 "solute carrier family 26, member 10|solute carrier family 26 member 10" Solute carrier family 26 2177 2001-01-25 2022-05-26 2022-05-26 2023-03-15 65012 ENSG00000135502 OTTHUMG00000128505 uc001spe.4 NR_166678 Q8NG04 MGI:2143920 RGD:1564851 SLC26A10 objectId:1106 HGNC:14470 HGNC:14471 SLC26A11 solute carrier family 26 member 11 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "solute carrier family 26, member 11|solute carrier family 26 (anion exchanger), member 11" Solute carrier family 26 2177 2001-01-25 2016-02-17 2023-01-20 284129 ENSG00000181045 OTTHUMG00000133419 uc002jyc.3 NM_001166347 CCDS11771 Q86WA9 MGI:2444589 RGD:1306178 610117 SLC26A11 objectId:1107 HGNC:14471 "ENST00000361193.8|NM_001166347.2" HGNC:10995 SLC27A1 solute carrier family 27 member 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FATP1|FATP|MGC71751|FLJ00336|ACSVL5" solute carrier family 27 (fatty acid transporter), member 1 "Acyl-CoA synthetase family|Solute carrier family 27" "40|2178" 1999-08-20 2016-02-17 2023-01-20 376497 ENSG00000130304 OTTHUMG00000182878 uc002ngu.2 BC059399 NM_198580 CCDS32953 Q6PCB7 10873384 MGI:1347098 RGD:620927 600691 SLC27A1 objectId:1108 HGNC:10995 "ENST00000252595.12|NM_198580.3" -HGNC:10996 SLC27A2 solute carrier family 27 member 2 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "FATP2|hFACVL1|VLACS|VLCS|HsT17226|ACSVL1" FACVL1 solute carrier family 27 (fatty acid transporter), member 2 "Acyl-CoA synthetase family|Solute carrier family 27" "40|2178" 1999-08-20 2016-02-17 2023-01-20 11001 ENSG00000140284 OTTHUMG00000131643 uc001zxw.4 D88308 NM_003645 "CCDS53943|CCDS10133" O14975 9730624 MGI:1347099 RGD:71103 603247 SLC27A2 objectId:1109 HGNC:10996 "ENST00000267842.10|NM_003645.4" +HGNC:10996 SLC27A2 solute carrier family 27 member 2 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "FATP2|hFACVL1|VLACS|VLCS|HsT17226|ACSVL1" FACVL1 solute carrier family 27 (fatty acid transporter), member 2 "Acyl-CoA synthetase family|Solute carrier family 27" "40|2178" 1999-08-20 2016-02-17 2023-01-20 11001 ENSG00000140284 OTTHUMG00000131643 uc001zxw.4 D88308 NM_003645 "CCDS10133|CCDS53943" O14975 9730624 MGI:1347099 RGD:71103 603247 SLC27A2 objectId:1109 HGNC:10996 "ENST00000267842.10|NM_003645.4" HGNC:10997 SLC27A3 solute carrier family 27 member 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "FATP3|MGC4365|ACSVL3" solute carrier family 27 (fatty acid transporter), member 3 "Acyl-CoA synthetase family|Solute carrier family 27" "40|2178" 1999-08-20 2016-02-17 2023-01-20 11000 ENSG00000143554 OTTHUMG00000037155 uc001fcz.3 BC009916 NM_024330 CCDS1053 Q5K4L6 9671728 MGI:1347358 RGD:1310605 604193 SLC27A3 objectId:1110 HGNC:10997 "ENST00000624995.4|NM_024330.4" HGNC:10998 SLC27A4 solute carrier family 27 member 4 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "FATP4|ACSVL4|FATP-4" "Long-chain fatty acid transport protein 4|fatty acid transport protein 4|acyl-CoA synthetase very long chain family member 4" solute carrier family 27 (fatty acid transporter), member 4 "Acyl-CoA synthetase family|Solute carrier family 27" "40|2178" 1999-08-20 2016-02-17 2023-01-20 10999 ENSG00000167114 OTTHUMG00000020746 uc004but.4 AF055899 NM_005094 CCDS6899 Q6P1M0 "9878842|34720920" MGI:1347347 RGD:1307383 604194 SLC27A4 208329 objectId:1111 6.2.1.3 HGNC:10998 "ENST00000300456.5|NM_005094.4" HGNC:10998 HGNC:10999 SLC27A5 solute carrier family 27 member 5 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "FATP5|VLACSR|VLCS-H2|VLCSH2|FACVL3|FLJ22987|ACSVL6|ACSB" fatty-acid-Coenzyme A ligase, very long-chain 3 solute carrier family 27 (fatty acid transporter), member 5 "Acyl-CoA synthetase family|Solute carrier family 27" "40|2178" 1999-08-20 2016-02-17 2023-01-20 10998 ENSG00000083807 OTTHUMG00000183543 uc002qtc.3 AF064255 NM_012254 "CCDS82415|CCDS12983" Q9Y2P5 "10479480|10749848" MGI:1347100 RGD:708535 603314 SLC27A5 471078 objectId:1112 HGNC:10999 "ENST00000263093.7|NM_012254.3" HGNC:11000 SLC27A6 solute carrier family 27 member 6 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 "FATP6|VLCS-H1|FACVL2|ACSVL2" fatty-acid-Coenzyme A ligase, very long-chain 2 solute carrier family 27 (fatty acid transporter), member 6 "Acyl-CoA synthetase family|Solute carrier family 27" "40|2178" 1999-08-20 2016-02-17 2023-01-20 28965 ENSG00000113396 OTTHUMG00000128991 uc003kuz.4 AF064254 NM_014031 CCDS4145 Q9Y2P4 "12556534|10479480" MGI:3036230 RGD:1311977 604196 SLC27A6 objectId:1113 HGNC:11000 "ENST00000262462.9|NM_001017372.3" -HGNC:11001 SLC28A1 solute carrier family 28 member 1 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 CNT1 "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1|solute carrier family 28 (concentrative nucleoside transporter), member 1" Solute carrier family 28 2179 1999-02-09 2016-02-17 2023-01-20 9154 ENSG00000156222 OTTHUMG00000148668 uc002blg.4 U62967 NM_001287761 "CCDS10335|CCDS73777|CCDS10334" O00337 9124315 MGI:3605073 RGD:621223 606207 SLC28A1 objectId:1114 HGNC:11001 "ENST00000394573.6|NM_004213.5" +HGNC:11001 SLC28A1 solute carrier family 28 member 1 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 CNT1 "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1|solute carrier family 28 (concentrative nucleoside transporter), member 1" Solute carrier family 28 2179 1999-02-09 2016-02-17 2023-01-20 9154 ENSG00000156222 OTTHUMG00000148668 uc002blg.4 U62967 NM_001287761 "CCDS73777|CCDS10334|CCDS10335" O00337 9124315 MGI:3605073 RGD:621223 606207 SLC28A1 objectId:1114 HGNC:11001 "ENST00000394573.6|NM_004213.5" HGNC:11002 SLC28A2 solute carrier family 28 member 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "CNT2|SPNT1|HCNT2|HsT17153" "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2|solute carrier family 28 (concentrative nucleoside transporter), member 2" Solute carrier family 28 2179 1999-02-09 2016-02-17 2023-01-20 9153 ENSG00000137860 OTTHUMG00000131426 uc001zva.3 U84392 NM_004212 CCDS10121 O43868 9435697 "MGI:1913105|MGI:3702173" RGD:61840 606208 SLC28A2 objectId:1115 HGNC:11002 "ENST00000347644.8|NM_004212.4" HGNC:55417 SLC28A2-AS1 SLC28A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 AC051619.4 Antisense RNAs 1987 2021-01-06 2022-10-06 101928414 ENSG00000259520 NR_120335 HGNC:16484 SLC28A3 solute carrier family 28 member 3 protein-coding gene gene with protein product Approved 9q21.32-q21.33 09q21.32-q21.33 CNT3 "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3|solute carrier family 28 (concentrative nucleoside transporter), member 3" Solute carrier family 28 2179 2001-08-31 2016-02-17 2023-01-20 64078 ENSG00000197506 OTTHUMG00000020117 uc010mpz.4 AF305210 NM_022127 CCDS6670 Q9HAS3 11032837 MGI:2137361 RGD:621224 608269 SLC28A3 objectId:1116 HGNC:16484 "ENST00000376238.5|NM_001199633.2" HGNC:55460 SLC28A3-AS1 SLC28A3 regulatory antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.32 09q21.32 Antisense RNAs 1987 2022-04-12 2022-04-12 105376116 ENSG00000233262 XR_001746802 34874743 HGNC:11003 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) protein-coding gene gene with protein product Approved 6p21.1 06p21.1 ENT1 solute carrier family 29 (equilibrative nucleoside transporter), member 1 "Blood group antigens|Solute carrier family 29" "454|2180" 1997-05-29 2016-03-17 2023-01-20 2030 ENSG00000112759 OTTHUMG00000014759 uc003owv.1 U81375 NM_001078175 CCDS4908 Q99808 "8986748|9344680|25896650" MGI:1927073 RGD:61899 LRG_1027|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1027.xml 602193 SLC29A1 objectId:1117 HGNC:11003 "ENST00000371755.9|NM_001372327.1" -HGNC:11004 SLC29A2 solute carrier family 29 member 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 DER12 "ENT2|HNP36" solute carrier family 29 (equilibrative nucleoside transporter), member 2 Solute carrier family 29 2180 1997-03-19 2016-03-17 2023-01-20 3177 ENSG00000174669 OTTHUMG00000169056 uc058dwm.1 X86681 NM_001532 "CCDS8137|CCDS73326" Q14542 "9192854|9478986" MGI:1345278 RGD:69296 602110 SLC29A2 objectId:1118 HGNC:11004 "ENST00000357440.7|NM_001532.3" +HGNC:11004 SLC29A2 solute carrier family 29 member 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 DER12 "ENT2|HNP36" solute carrier family 29 (equilibrative nucleoside transporter), member 2 Solute carrier family 29 2180 1997-03-19 2016-03-17 2023-01-20 3177 ENSG00000174669 OTTHUMG00000169056 uc058dwm.1 X86681 NM_001532 "CCDS73326|CCDS8137" Q14542 "9192854|9478986" MGI:1345278 RGD:69296 602110 SLC29A2 objectId:1118 HGNC:11004 "ENST00000357440.7|NM_001532.3" HGNC:23096 SLC29A3 solute carrier family 29 member 3 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "ENT3|FLJ11160|hENT3" "solute carrier family 29 (nucleoside transporters), member 3|solute carrier family 29 (equilibrative nucleoside transporter), member 3" Solute carrier family 29 2180 2003-10-08 2016-02-17 2023-01-20 55315 ENSG00000198246 OTTHUMG00000018424 uc001jrr.5 AF326987 NM_018344 "CCDS86099|CCDS7310" Q9BZD2 "11396612|20140240" MGI:1918529 RGD:727811 "LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SLC29A3|LRG_1318|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1318.xml" 612373 SLC29A3 173057 objectId:1119 HGNC:23096 "ENST00000373189.6|NM_018344.6" HGNC:23096 -HGNC:23097 SLC29A4 solute carrier family 29 member 4 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "FLJ34923|ENT4" "solute carrier family 29 (nucleoside transporters), member 4|solute carrier family 29 (equilibrative nucleoside transporter), member 4" Solute carrier family 29 2180 2003-10-08 2016-02-17 2023-01-20 222962 ENSG00000164638 OTTHUMG00000023797 uc003sod.4 AK075422 NM_153247 "CCDS5340|CCDS75561" Q7RTT9 12838422 MGI:2385330 RGD:1310545 609149 SLC29A4 objectId:1120 HGNC:23097 "ENST00000396872.8|NM_153247.4" +HGNC:23097 SLC29A4 solute carrier family 29 member 4 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "FLJ34923|ENT4" "solute carrier family 29 (nucleoside transporters), member 4|solute carrier family 29 (equilibrative nucleoside transporter), member 4" Solute carrier family 29 2180 2003-10-08 2016-02-17 2023-01-20 222962 ENSG00000164638 OTTHUMG00000023797 uc003sod.4 AK075422 NM_153247 "CCDS75561|CCDS5340" Q7RTT9 12838422 MGI:2385330 RGD:1310545 609149 SLC29A4 objectId:1120 HGNC:23097 "ENST00000396872.8|NM_153247.4" HGNC:43783 SLC29A4P1 solute carrier family 29 member 4 pseudogene 1 pseudogene pseudogene Approved 7p11.2 07p11.2 solute carrier family 29 (nucleoside transporters), member 4 pseudogene 1 2012-03-02 2016-02-17 2016-02-17 402509 ENSG00000214668 OTTHUMG00000156099 NG_022537 SLC29A4P1 PGOHUM00000232753 HGNC:43783 HGNC:43782 SLC29A4P2 solute carrier family 29 member 4 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 solute carrier family 29 (nucleoside transporters), member 4 pseudogene 2 2012-03-02 2016-02-17 2016-02-17 100132308 ENSG00000214660 OTTHUMG00000156502 NG_022561 SLC29A4P2 PGOHUM00000233324 HGNC:43782 HGNC:11012 SLC30A1 solute carrier family 30 member 1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 ZRC1 zinc resistance conferring homolog (S. cerevisiae) ZNT1 solute carrier family 30 (zinc transporter), member 1 Solute carrier family 30 2181 1997-12-12 2016-02-17 2023-01-20 7779 ENSG00000170385 OTTHUMG00000036995 uc001hio.2 AF323590 NM_021194 CCDS1499 Q9Y6M5 MGI:1345281 RGD:61918 609521 SLC30A1 objectId:1121 HGNC:11012 "ENST00000367001.5|NM_021194.3" @@ -35768,35 +35771,35 @@ HGNC:11014 SLC30A3 solute carrier family 30 member 3 protein-coding gene gene wi HGNC:11015 SLC30A4 solute carrier family 30 member 4 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 ZNT4 solute carrier family 30 (zinc transporter), member 4 Solute carrier family 30 2181 1997-12-12 2016-02-17 2023-01-20 7782 ENSG00000104154 OTTHUMG00000131439 uc001zvj.5 NM_001321036 CCDS10125 O14863 MGI:1345282 RGD:619750 602095 SLC30A4 objectId:1124 HGNC:11015 "ENST00000261867.5|NM_013309.6" HGNC:56661 SLC30A4-AS1 SLC30A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 Antisense RNAs 1987 2022-12-07 2022-12-07 105376714 ENSG00000259354 XM_047433407 29290766 HGNC:19089 SLC30A5 solute carrier family 30 member 5 protein-coding gene gene with protein product Approved 5q13.1-q13.2 05q13.1-q13.2 "ZTL1|ZnT-5|FLJ12496|FLJ12756|ZNT5|MGC5499|ZNTL1" solute carrier family 30 (zinc transporter), member 5 Solute carrier family 30 2181 2003-02-12 2016-02-17 2023-01-20 64924 ENSG00000145740 OTTHUMG00000131253 uc003jvh.4 AF212235 NM_001251969 "CCDS58955|CCDS3996|CCDS34173" Q8TAD4 "11937503|11904301" MGI:1916298 RGD:1306931 607819 SLC30A5 objectId:1125 HGNC:19089 "ENST00000396591.8|NM_022902.5" -HGNC:19305 SLC30A6 solute carrier family 30 member 6 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "FLJ31101|ZNT6" solute carrier family 30 (zinc transporter), member 6 Solute carrier family 30 2181 2003-02-12 2016-02-17 2023-01-20 55676 ENSG00000152683 OTTHUMG00000128456 uc002roe.3 AK055663 NM_001193513 "CCDS1780|CCDS54341|CCDS54343|CCDS82434|CCDS54342" Q6NXT4 MGI:2386741 RGD:1309250 611148 SLC30A6 objectId:1126 HGNC:19305 "ENST00000282587.9|NM_017964.5" -HGNC:55203 SLC30A6-DT SLC30A6 divergent transcript non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 Divergent transcripts 1990 2020-08-21 2020-08-21 118568811 ENSG00000272716 +HGNC:19305 SLC30A6 solute carrier family 30 member 6 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "FLJ31101|ZNT6" solute carrier family 30 (zinc transporter), member 6 Solute carrier family 30 2181 2003-02-12 2016-02-17 2023-01-20 55676 ENSG00000152683 OTTHUMG00000128456 uc002roe.3 AK055663 NM_001193513 "CCDS54341|CCDS54342|CCDS1780|CCDS82434|CCDS54343" Q6NXT4 MGI:2386741 RGD:1309250 611148 SLC30A6 objectId:1126 HGNC:19305 "ENST00000282587.9|NM_017964.5" +HGNC:55203 SLC30A6-DT SLC30A6 divergent transcript non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 Divergent transcripts 1990 2020-08-21 2020-08-21 118568811 ENSG00000272716 NR_185886 HGNC:54646 SLC30A6P1 SLC30A6 pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 2019-11-06 2019-11-06 2019-11-06 100422091 ENSG00000232277 NG_023601 HGNC:19306 SLC30A7 solute carrier family 30 member 7 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "ZnTL2|ZNT7" solute carrier family 30 (zinc transporter), member 7 Solute carrier family 30 2181 2003-03-14 2016-02-17 2023-01-20 148867 ENSG00000162695 OTTHUMG00000011815 uc001dtn.3 AF233345 NM_133496 CCDS776 Q8NEW0 12446736 MGI:1913750 RGD:1307873 611149 SLC30A7 objectId:1127 HGNC:19306 "ENST00000357650.9|NM_133496.5" -HGNC:20303 SLC30A8 solute carrier family 30 member 8 protein-coding gene gene with protein product Approved 8q24.11 08q24.11 "ZnT-8|ZNT8" Zinc transporter 8 solute carrier family 30 (zinc transporter), member 8 Solute carrier family 30 2181 2003-03-14 2016-02-17 2023-01-20 169026 ENSG00000164756 OTTHUMG00000164962 uc064psc.1 NM_173851 "CCDS6322|CCDS55272" Q8IWU4 MGI:2442682 RGD:1308282 611145 SLC30A8 objectId:1128 HGNC:20303 "ENST00000456015.7|NM_173851.3" +HGNC:20303 SLC30A8 solute carrier family 30 member 8 protein-coding gene gene with protein product Approved 8q24.11 08q24.11 "ZnT-8|ZNT8" Zinc transporter 8 solute carrier family 30 (zinc transporter), member 8 Solute carrier family 30 2181 2003-03-14 2016-02-17 2023-01-20 169026 ENSG00000164756 OTTHUMG00000164962 uc064psc.1 NM_173851 "CCDS55272|CCDS6322" Q8IWU4 MGI:2442682 RGD:1308282 611145 SLC30A8 objectId:1128 HGNC:20303 "ENST00000456015.7|NM_173851.3" HGNC:1329 SLC30A9 solute carrier family 30 member 9 protein-coding gene gene with protein product Approved 4p13 04p13 "HUEL|ZNT9|GAC63" GRIP1-dependent nuclear receptor coactivator C4orf1 "chromosome 4 open reading frame 1|solute carrier family 30 (zinc transporter), member 9" Solute carrier family 30 2181 1998-12-03 2003-09-10 2016-02-17 2023-01-20 10463 ENSG00000014824 OTTHUMG00000099387 uc003gwl.4 AF006621 NM_006345 CCDS3465 Q6PML9 "10409434|11906820" MGI:1923690 RGD:1593180 604604 SLC30A9 objectId:1129 HGNC:1329 "ENST00000264451.12|NM_006345.4" HGNC:1329 -HGNC:25355 SLC30A10 solute carrier family 30 member 10 protein-coding gene gene with protein product Approved 1q41 01q41 "DKFZp547M236|ZnT-10|ZRC1|ZNT8|ZNT10" "zinc transporter 8|zinc transporter 10|zinc resistance conferring homolog (S. cerevisiae)" solute carrier family 30, member 10 Solute carrier family 30 2181 2005-09-06 2015-12-08 2023-01-20 55532 ENSG00000196660 OTTHUMG00000037434 uc001hlw.4 AY212919 NM_018713 "CCDS31026|CCDS91159" Q6XR72 "15154973|22341971" MGI:2685058 RGD:1305098 611146 SLC30A10 311032 objectId:1130 HGNC:25355 "ENST00000366926.4|NM_018713.3" HGNC:25355 +HGNC:25355 SLC30A10 solute carrier family 30 member 10 protein-coding gene gene with protein product Approved 1q41 01q41 "DKFZp547M236|ZnT-10|ZRC1|ZNT8|ZNT10" "zinc transporter 8|zinc transporter 10|zinc resistance conferring homolog (S. cerevisiae)" solute carrier family 30, member 10 Solute carrier family 30 2181 2005-09-06 2015-12-08 2023-01-20 55532 ENSG00000196660 OTTHUMG00000037434 uc001hlw.4 AY212919 NM_018713 "CCDS91159|CCDS31026" Q6XR72 "15154973|22341971" MGI:2685058 RGD:1305098 611146 SLC30A10 311032 objectId:1130 HGNC:25355 "ENST00000366926.4|NM_018713.3" HGNC:25355 HGNC:11016 SLC31A1 solute carrier family 31 member 1 protein-coding gene gene with protein product Approved 9q32 09q32 "hCTR1|CTR1" COPT1 solute carrier family 31 (copper transporter), member 1 Solute carrier family 31 2182 1997-10-16 2016-02-17 2023-01-20 1317 ENSG00000136868 OTTHUMG00000020519 uc004bgu.4 U83460 NM_001859 CCDS6789 O15431 9207117 MGI:1333843 RGD:620059 603085 SLC31A1 objectId:1131 HGNC:11016 "ENST00000374212.5|NM_001859.4" HGNC:17124 SLC31A1P1 solute carrier family 31 member 1 pseudogene 1 pseudogene pseudogene Approved 3q26.31 03q26.31 CTR1psi SLC31A1P "solute carrier family 31 (copper transporters), member 1 pseudogene|solute carrier family 31 (copper transporter), member 1 pseudogene 1" 2001-11-02 2010-02-24 2016-02-17 2016-02-17 117151 ENSG00000224426 OTTHUMG00000156918 AF238997 NG_009573 11054564 SLC31A1P1 PGOHUM00000237863 HGNC:17124 HGNC:11017 SLC31A2 solute carrier family 31 member 2 protein-coding gene gene with protein product Approved 9q32 09q32 "hCTR2|CTR2" copper transporter 2 COPT2 solute carrier family 31 (copper transporter), member 2 Solute carrier family 31 2182 1997-10-16 2016-02-17 2023-01-20 1318 ENSG00000136867 OTTHUMG00000021037 uc004bgq.4 NM_001860 CCDS6788 O15432 9207117 MGI:1333844 RGD:1307963 603088 SLC31A2 objectId:1132 HGNC:11017 "ENST00000259392.8|NM_001860.3" HGNC:11018 SLC32A1 solute carrier family 32 member 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "VGAT|bA122O1.1" VIAAT "vesicular inhibitory amino acid transporter|solute carrier family 32 (GABA vesicular transporter), member 1" Solute carrier family 32 2183 1999-08-20 2016-02-17 2023-01-20 140679 ENSG00000101438 OTTHUMG00000032457 uc002xjc.3 AL133519 NM_080552 CCDS13307 Q9H598 19843525 MGI:1194488 RGD:621402 616440 SLC32A1 objectId:1133 HGNC:11018 "ENST00000217420.2|NM_080552.3" -HGNC:95 SLC33A1 solute carrier family 33 member 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "AT-1|AT1" Acetyl-CoA transporter 1 "ACATN|SPG42" "acetyl-Coenzyme A transporter|spastic paraplegia 42 (autosomal dominant)|solute carrier family 33 (acetyl-CoA transporter), member 1" Solute carrier family 33 2184 1999-02-12 2002-12-06 2016-02-17 2023-01-20 9197 ENSG00000169359 OTTHUMG00000158481 uc003fao.4 D88152 NM_004733 "CCDS87159|CCDS3173" O00400 "9096318|19061983|20826464" MGI:1332247 RGD:620653 603690 SLC33A1 180215 objectId:1134 HGNC:95 "ENST00000643144.2|NM_004733.4" HGNC:95 -HGNC:11019 SLC34A1 solute carrier family 34 member 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "NAPI-3|NPTIIa|SLC11" "sodium/phosphate co-transporter|solute carrier family 17 (sodium phosphate), member 2|Na+-phosphate cotransporter type II" "NPT2|SLC17A2" "solute carrier family 34 (sodium phosphate), member 1|solute carrier family 34 (type II sodium/phosphate cotransporter), member 1" Solute carrier family 34 2185 1994-05-25 2016-02-17 2023-01-20 6569 ENSG00000131183 OTTHUMG00000130857 uc003mgk.5 L13258 NM_003052 "CCDS54953|CCDS4418" Q06495 "8327470|8693007" MGI:1345284 RGD:3708 182309 SLC34A1 227390 objectId:1135 HGNC:11019 "ENST00000324417.6|NM_003052.5" HGNC:11019 +HGNC:95 SLC33A1 solute carrier family 33 member 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "AT-1|AT1" Acetyl-CoA transporter 1 "ACATN|SPG42" "acetyl-Coenzyme A transporter|spastic paraplegia 42 (autosomal dominant)|solute carrier family 33 (acetyl-CoA transporter), member 1" Solute carrier family 33 2184 1999-02-12 2002-12-06 2016-02-17 2023-01-20 9197 ENSG00000169359 OTTHUMG00000158481 uc003fao.4 D88152 NM_004733 "CCDS3173|CCDS87159" O00400 "9096318|19061983|20826464" MGI:1332247 RGD:620653 603690 SLC33A1 180215 objectId:1134 HGNC:95 "ENST00000643144.2|NM_004733.4" HGNC:95 +HGNC:11019 SLC34A1 solute carrier family 34 member 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "NAPI-3|NPTIIa|SLC11" "sodium/phosphate co-transporter|solute carrier family 17 (sodium phosphate), member 2|Na+-phosphate cotransporter type II" "NPT2|SLC17A2" "solute carrier family 34 (sodium phosphate), member 1|solute carrier family 34 (type II sodium/phosphate cotransporter), member 1" Solute carrier family 34 2185 1994-05-25 2016-02-17 2023-01-20 6569 ENSG00000131183 OTTHUMG00000130857 uc003mgk.5 L13258 NM_003052 "CCDS4418|CCDS54953" Q06495 "8327470|8693007" MGI:1345284 RGD:3708 182309 SLC34A1 227390 objectId:1135 HGNC:11019 "ENST00000324417.6|NM_003052.5" HGNC:11019 HGNC:11020 SLC34A2 solute carrier family 34 member 2 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "NAPI-3B|NaPi-2b|NPTIIb|NaPi2b|NAPI-IIb" Sodium-dependent phosphate transport protein 2B "solute carrier family 34 (sodium phosphate), member 2|solute carrier family 34 (type II sodium/phosphate cotransporter), member 2" Solute carrier family 34 2185 1999-07-19 2016-02-17 2023-01-20 10568 ENSG00000157765 OTTHUMG00000097757 uc003grr.4 AF111856 NM_006424 "CCDS3435|CCDS54750" O95436 "10329428|10610722|16960801" MGI:1342284 RGD:620889 SLC34A2 604217 SLC34A2 118831 objectId:1136 HGNC:11020 "ENST00000382051.8|NM_006424.3" HGNC:11020 HGNC:20305 SLC34A3 solute carrier family 34 member 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NPTIIc|FLJ38680|NaPi-2c|NPT2C" Sodium-dependent phosphate transport protein 2C "solute carrier family 34 (sodium phosphate), member 3|solute carrier family 34 (type II sodium/phosphate cotransporter), member 3" Solute carrier family 34 2185 2003-08-08 2016-02-17 2023-01-20 142680 ENSG00000198569 OTTHUMG00000131780 uc011met.2 AB055000 NM_080877 CCDS7038 Q8N130 "11880379|16358215|16358214" MGI:2159410 RGD:708551 609826 SLC34A3 118834 objectId:1137 HGNC:20305 "ENST00000673835.1|NM_001177316.2" HGNC:20305 -HGNC:11021 SLC35A1 solute carrier family 35 member A1 protein-coding gene gene with protein product Approved 6q15 06q15 "CMPST|hCST|CMP-Sia-Tr" CMP-sialic acid transporter "solute carrier family 35 (UDP-galactose transporter), member 1|solute carrier family 35 (CMP-sialic acid transporter), member A1" Solute carrier family 35 2186 1999-10-05 2016-02-17 2023-01-20 10559 ENSG00000164414 OTTHUMG00000015177 uc011dzj.3 D87969 NM_001168398 "CCDS5010|CCDS55043" P78382 "9010752|9644260|33396746" MGI:1345622 RGD:1311359 605634 SLC35A1 139197 objectId:1138 HGNC:11021 "ENST00000369552.9|NM_006416.5" HGNC:11021 -HGNC:11022 SLC35A2 solute carrier family 35 member A2 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "UGAT|UGT|UGT1|UGT2|UGTL|UDP-Gal-Tr" UDP-galactose translocator UGALT "solute carrier family 35 (UDP-galactose transporter), member 2|solute carrier family 35 (UDP-galactose transporter), member A2" Solute carrier family 35 2186 1995-02-24 2016-02-17 2023-01-20 7355 ENSG00000102100 OTTHUMG00000024129 uc004dlo.4 D88146 NM_005660 "CCDS14311|CCDS65253|CCDS35247|CCDS75973|CCDS43937|CCDS65254|CCDS75975|CCDS75974" P78381 "8128316|3561849" MGI:1345297 RGD:2293497 314375 SLC35A2 358431 objectId:1139 HGNC:11022 "ENST00000247138.11|NM_005660.3" HGNC:11022 -HGNC:11023 SLC35A3 solute carrier family 35 member A3 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 UDP-N-acetylglucosamine transporter "solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3|solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3" Solute carrier family 35 2186 1999-10-05 2016-02-17 2023-01-20 23443 ENSG00000117620 OTTHUMG00000010805 uc001dsp.3 AB021981 NM_012243 "CCDS60205|CCDS762|CCDS60204" Q9Y2D2 "10393322|24031089" MGI:1917648 RGD:1308615 605632 SLC35A3 371162 objectId:1140 HGNC:11023 "ENST00000533028.8|NM_012243.3" HGNC:11023 -HGNC:20753 SLC35A4 solute carrier family 35 member A4 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 solute carrier family 35, member A4 Solute carrier family 35 2186 2003-03-31 2015-12-04 2023-01-20 113829 ENSG00000176087 OTTHUMG00000129495 uc063hwh.1 AJ420598 NM_080670 "CCDS4231|CCDS93794" "L0R6Q1|Q96G79" MGI:1915093 RGD:628792 620297 SLC35A4 objectId:1141 HGNC:20753 "ENST00000323146.8|NM_080670.4" -HGNC:20792 SLC35A5 solute carrier family 35 member A5 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ20730 solute carrier family 35, member A5 Solute carrier family 35 2186 2003-04-04 2015-12-04 2023-01-20 55032 ENSG00000138459 OTTHUMG00000159263 uc003dze.5 AK000737 NM_017945 "CCDS2967|CCDS87121" Q9BS91 MGI:1921352 RGD:1564361 620298 SLC35A5 objectId:1142 HGNC:20792 "ENST00000492406.6|NM_017945.5" +HGNC:11021 SLC35A1 solute carrier family 35 member A1 protein-coding gene gene with protein product Approved 6q15 06q15 "CMPST|hCST|CMP-Sia-Tr" CMP-sialic acid transporter "solute carrier family 35 (UDP-galactose transporter), member 1|solute carrier family 35 (CMP-sialic acid transporter), member A1" Solute carrier family 35 2186 1999-10-05 2016-02-17 2023-01-20 10559 ENSG00000164414 OTTHUMG00000015177 uc011dzj.3 D87969 NM_001168398 "CCDS55043|CCDS5010" P78382 "9010752|9644260|33396746" MGI:1345622 RGD:1311359 605634 SLC35A1 139197 objectId:1138 HGNC:11021 "ENST00000369552.9|NM_006416.5" HGNC:11021 +HGNC:11022 SLC35A2 solute carrier family 35 member A2 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "UGAT|UGT|UGT1|UGT2|UGTL|UDP-Gal-Tr" UDP-galactose translocator UGALT "solute carrier family 35 (UDP-galactose transporter), member 2|solute carrier family 35 (UDP-galactose transporter), member A2" Solute carrier family 35 2186 1995-02-24 2016-02-17 2023-01-20 7355 ENSG00000102100 OTTHUMG00000024129 uc004dlo.4 D88146 NM_005660 "CCDS75975|CCDS75974|CCDS65253|CCDS65254|CCDS14311|CCDS43937|CCDS75973|CCDS35247" P78381 "8128316|3561849" MGI:1345297 RGD:2293497 314375 SLC35A2 358431 objectId:1139 HGNC:11022 "ENST00000247138.11|NM_005660.3" HGNC:11022 +HGNC:11023 SLC35A3 solute carrier family 35 member A3 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 UDP-N-acetylglucosamine transporter "solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3|solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3" Solute carrier family 35 2186 1999-10-05 2016-02-17 2023-01-20 23443 ENSG00000117620 OTTHUMG00000010805 uc001dsp.3 AB021981 NM_012243 "CCDS60204|CCDS60205|CCDS762" Q9Y2D2 "10393322|24031089" MGI:1917648 RGD:1308615 605632 SLC35A3 371162 objectId:1140 HGNC:11023 "ENST00000533028.8|NM_012243.3" HGNC:11023 +HGNC:20753 SLC35A4 solute carrier family 35 member A4 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 solute carrier family 35, member A4 Solute carrier family 35 2186 2003-03-31 2015-12-04 2023-01-20 113829 ENSG00000176087 OTTHUMG00000129495 uc063hwh.1 AJ420598 NM_080670 "CCDS93794|CCDS4231" "L0R6Q1|Q96G79" MGI:1915093 RGD:628792 620297 SLC35A4 objectId:1141 HGNC:20753 "ENST00000323146.8|NM_080670.4" +HGNC:20792 SLC35A5 solute carrier family 35 member A5 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ20730 solute carrier family 35, member A5 Solute carrier family 35 2186 2003-04-04 2015-12-04 2023-01-20 55032 ENSG00000138459 OTTHUMG00000159263 uc003dze.5 AK000737 NM_017945 "CCDS87121|CCDS2967" Q9BS91 MGI:1921352 RGD:1564361 620298 SLC35A5 objectId:1142 HGNC:20792 "ENST00000492406.6|NM_017945.5" HGNC:20798 SLC35B1 solute carrier family 35 member B1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "UGTREL1|AXER" ATP/ADP exchanger in the ER membrane solute carrier family 35, member B1 Solute carrier family 35 2186 2003-04-07 2015-12-04 2023-01-20 10237 ENSG00000121073 OTTHUMG00000161638 uc002iph.3 D16978 NM_005827 CCDS11552 P78383 "9010752|30154480" MGI:1343133 RGD:727783 610790 SLC35B1 objectId:1143 HGNC:20798 "ENST00000240333.12|NM_005827.4" -HGNC:16872 SLC35B2 solute carrier family 35 member B2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 UGTrel4 "solute carrier family 35, member B2|solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2" "MicroRNA protein coding host genes|Solute carrier family 35" "1691|2186" 2003-04-10 2016-02-17 2023-01-20 347734 ENSG00000157593 OTTHUMG00000014760 uc011dvu.4 AK075456 NM_001286509 "CCDS75463|CCDS69127|CCDS34462|CCDS75462" Q8TB61 MGI:1921086 RGD:1565318 610788 SLC35B2 objectId:1144 HGNC:16872 "ENST00000393812.4|NM_178148.4" +HGNC:16872 SLC35B2 solute carrier family 35 member B2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 UGTrel4 "solute carrier family 35, member B2|solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2" "MicroRNA protein coding host genes|Solute carrier family 35" "1691|2186" 2003-04-10 2016-02-17 2023-01-20 347734 ENSG00000157593 OTTHUMG00000014760 uc011dvu.4 AK075456 NM_001286509 "CCDS75462|CCDS34462|CCDS69127|CCDS75463" Q8TB61 MGI:1921086 RGD:1565318 610788 SLC35B2 objectId:1144 HGNC:16872 "ENST00000393812.4|NM_178148.4" HGNC:21601 SLC35B3 solute carrier family 35 member B3 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "CGI-19|dJ453H5.1|PAPST2" 3' phosphoadenosine 5' phosphosulfate transporter 2 C6orf196 "chromosome 6 open reading frame 196|solute carrier family 35, member B3|solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3" Solute carrier family 35 2186 2003-06-25 2003-09-10 2016-02-17 2023-01-20 51000 ENSG00000124786 OTTHUMG00000014224 uc003myb.5 AF132953 NM_015948 "CCDS4508|CCDS93854" Q9H1N7 10810093 MGI:1913978 RGD:1307183 610845 SLC35B3 objectId:1145 HGNC:21601 "ENST00000644923.2|NM_001370476.2" HGNC:20584 SLC35B4 solute carrier family 35 member B4 protein-coding gene gene with protein product Approved 7q33 07q33 "FLJ14697|YEA4" "solute carrier family 35, member B4|solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4" Solute carrier family 35 2186 2003-09-09 2016-02-17 2023-01-20 84912 ENSG00000205060 OTTHUMG00000155321 uc003vrn.4 AB052892 NM_032826 CCDS34756 Q969S0 MGI:1931249 RGD:1308985 610923 SLC35B4 objectId:1146 HGNC:20584 "ENST00000378509.9|NM_032826.5" -HGNC:20197 SLC35C1 solute carrier family 35 member C1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FUCT1|FLJ11320" GDP-fucose transporter 1 "solute carrier family 35, member C1|solute carrier family 35 (GDP-fucose transporter), member C1" Solute carrier family 35 2186 2003-10-08 2016-02-17 2023-01-20 55343 ENSG00000181830 OTTHUMG00000166519 uc001nbp.4 NM_018389 "CCDS7914|CCDS44575" Q96A29 "11326279|11326280" MGI:2443301 RGD:1309463 "Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/|SLC35C1base: Mutation registry for Leucocyte adhesion deficiency I I (LAD-II) (previously known as FUCT1base)|http://structure.bmc.lu.se/idbase/SLC35C1base/|LRG_107|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_107.xml" 605881 SLC35C1 118838 objectId:1147 HGNC:20197 "ENST00000314134.4|NM_018389.5" HGNC:20197 -HGNC:17117 SLC35C2 solute carrier family 35 member C2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CGI-15|bA394O2.1" "C20orf5|OVCOV1" "ovarian cancer overexpressed 1|solute carrier family 35, member C2|solute carrier family 35 (GDP-fucose transporter), member C2" Solute carrier family 35 2186 2001-11-23 2003-10-10 2016-02-17 2023-01-20 51006 ENSG00000080189 OTTHUMG00000033050 uc002xrr.5 NM_015945 "CCDS63292|CCDS13397|CCDS13396" Q9NQQ7 "10810093|11549316" MGI:2385166 RGD:1311250 619530 SLC35C2 objectId:1148 HGNC:17117 "ENST00000372230.10|NM_015945.12" +HGNC:20197 SLC35C1 solute carrier family 35 member C1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FUCT1|FLJ11320" GDP-fucose transporter 1 "solute carrier family 35, member C1|solute carrier family 35 (GDP-fucose transporter), member C1" Solute carrier family 35 2186 2003-10-08 2016-02-17 2023-01-20 55343 ENSG00000181830 OTTHUMG00000166519 uc001nbp.4 NM_018389 "CCDS44575|CCDS7914" Q96A29 "11326279|11326280" MGI:2443301 RGD:1309463 "Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/|SLC35C1base: Mutation registry for Leucocyte adhesion deficiency I I (LAD-II) (previously known as FUCT1base)|http://structure.bmc.lu.se/idbase/SLC35C1base/|LRG_107|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_107.xml" 605881 SLC35C1 118838 objectId:1147 HGNC:20197 "ENST00000314134.4|NM_018389.5" HGNC:20197 +HGNC:17117 SLC35C2 solute carrier family 35 member C2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CGI-15|bA394O2.1" "C20orf5|OVCOV1" "ovarian cancer overexpressed 1|solute carrier family 35, member C2|solute carrier family 35 (GDP-fucose transporter), member C2" Solute carrier family 35 2186 2001-11-23 2003-10-10 2016-02-17 2023-01-20 51006 ENSG00000080189 OTTHUMG00000033050 uc002xrr.5 NM_015945 "CCDS13396|CCDS13397|CCDS63292" Q9NQQ7 "10810093|11549316" MGI:2385166 RGD:1311250 619530 SLC35C2 objectId:1148 HGNC:17117 "ENST00000372230.10|NM_015945.12" HGNC:54894 SLC35C2P1 SLC35C2 pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 2020-04-17 2020-04-17 100129483 ENSG00000223498 NG_022585 HGNC:20800 SLC35D1 solute carrier family 35 member D1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "UGTREL7|KIAA0260" UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter "solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1|solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1" Solute carrier family 35 2186 2003-04-09 2016-02-17 2023-01-20 23169 ENSG00000116704 OTTHUMG00000009360 uc001ddk.3 AB044343 NM_015139 CCDS636 Q9NTN3 "11322953|17952091" MGI:2140361 RGD:1309843 610804 SLC35D1 168079 objectId:1149 HGNC:20800 "ENST00000235345.6|NM_015139.3" HGNC:20800 -HGNC:20799 SLC35D2 solute carrier family 35 member D2 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "UGTrel8|SQV7L" "solute carrier family 35, member D2|solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2" Solute carrier family 35 2186 2003-10-07 2016-02-17 2023-01-20 11046 ENSG00000130958 OTTHUMG00000020293 uc004awc.4 AB122077 NM_001286990 "CCDS69625|CCDS6717" Q76EJ3 15607426 MGI:1917734 RGD:1309518 609182 SLC35D2 objectId:1150 HGNC:20799 "ENST00000253270.13|NM_007001.3" +HGNC:20799 SLC35D2 solute carrier family 35 member D2 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "UGTrel8|SQV7L" "solute carrier family 35, member D2|solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2" Solute carrier family 35 2186 2003-10-07 2016-02-17 2023-01-20 11046 ENSG00000130958 OTTHUMG00000020293 uc004awc.4 AB122077 NM_001286990 "CCDS6717|CCDS69625" Q76EJ3 15607426 MGI:1917734 RGD:1309518 609182 SLC35D2 objectId:1150 HGNC:20799 "ENST00000253270.13|NM_007001.3" HGNC:15621 SLC35D3 solute carrier family 35 member D3 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 FRCL1 solute carrier family 35, member D3 Solute carrier family 35 2186 2003-10-07 2015-12-04 2023-01-20 340146 ENSG00000182747 OTTHUMG00000015651 uc003qhe.4 NM_001008783 CCDS34544 Q5M8T2 MGI:1923407 RGD:1309428 612519 SLC35D3 objectId:1151 HGNC:15621 "ENST00000331858.5|NM_001008783.3" HGNC:20803 SLC35E1 solute carrier family 35 member E1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 FLJ14251 solute carrier family 35, member E1 Solute carrier family 35 2186 2003-04-09 2015-12-04 2023-01-20 79939 ENSG00000127526 OTTHUMG00000152575 uc010xph.3 AK024313 NM_024881 CCDS12346 Q96K37 MGI:2142403 RGD:1561342 620337 SLC35E1 objectId:1152 HGNC:20803 "ENST00000595753.6|NM_024881.5" HGNC:42046 SLC35E1P1 solute carrier family 35 member E1 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 solute carrier family 35, member E1 pseudogene 1 2011-06-01 2015-12-04 2015-12-04 727991 ENSG00000238286 OTTHUMG00000016518 NG_007300 SLC35E1P1 PGOHUM00000248512 HGNC:42046 @@ -35806,10 +35809,10 @@ HGNC:20864 SLC35E3 solute carrier family 35 member E3 protein-coding gene gene w HGNC:17058 SLC35E4 solute carrier family 35 member E4 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 solute carrier family 35, member E4 Solute carrier family 35 2186 2003-11-25 2015-12-04 2023-01-20 339665 ENSG00000100036 OTTHUMG00000151110 uc003ais.2 NM_001001479 "CCDS13882|CCDS82708" Q6ICL7 MGI:2144150 RGD:708484 SLC35E4 objectId:1155 HGNC:17058 "ENST00000343605.5|NM_001001479.4" HGNC:21483 SLC35F1 solute carrier family 35 member F1 protein-coding gene gene with protein product Approved 6q22.2-q22.31 06q22.2-q22.31 dJ230I3.1 C6orf169 "chromosome 6 open reading frame 169|solute carrier family 35, member F1" Solute carrier family 35 2186 2003-11-26 2015-12-04 2023-01-20 222553 ENSG00000196376 OTTHUMG00000015460 uc003pxx.4 BC028615 NM_001029858 CCDS34524 Q5T1Q4 MGI:2139810 RGD:1559576 620349 SLC35F1 objectId:1156 HGNC:21483 "ENST00000360388.9|NM_001029858.4" HGNC:23615 SLC35F2 solute carrier family 35 member F2 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 FLJ13018 solute carrier family 35, member F2 Solute carrier family 35 2186 2003-11-25 2015-12-04 2023-01-20 54733 ENSG00000110660 OTTHUMG00000166366 uc001pjq.3 NM_017515 CCDS41709 Q8IXU6 9119394 MGI:1919272 RGD:1311242 620350 SLC35F2 objectId:1157 HGNC:23615 "ENST00000525815.6|NM_017515.5" -HGNC:23616 SLC35F3 solute carrier family 35 member F3 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 FLJ37712 solute carrier family 35, member F3 "MicroRNA protein coding host genes|Solute carrier family 35" "1691|2186" 2003-11-25 2015-12-04 2023-01-20 148641 ENSG00000183780 OTTHUMG00000037929 uc001hvy.1 NM_173508 "CCDS73050|CCDS1600" Q8IY50 MGI:2444426 RGD:1589548 SLC35F3 objectId:1158 HGNC:23616 "ENST00000366618.8|NM_173508.4" +HGNC:23616 SLC35F3 solute carrier family 35 member F3 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 FLJ37712 solute carrier family 35, member F3 "MicroRNA protein coding host genes|Solute carrier family 35" "1691|2186" 2003-11-25 2015-12-04 2023-01-20 148641 ENSG00000183780 OTTHUMG00000037929 uc001hvy.1 NM_173508 "CCDS1600|CCDS73050" Q8IY50 MGI:2444426 RGD:1589548 SLC35F3 objectId:1158 HGNC:23616 "ENST00000366618.8|NM_173508.4" HGNC:41027 SLC35F3-AS1 SLC35F3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Antisense RNAs 1987 2020-03-26 2020-03-26 102724100 ENSG00000236244 OTTHUMG00000040085 NR_183711 HGNC:19845 SLC35F4 solute carrier family 35 member F4 protein-coding gene gene with protein product Approved 14q22.3-q23.1 14q22.3-q23.1 FLJ37712 C14orf36 "chromosome 14 open reading frame 36|solute carrier family 35, member F4" Solute carrier family 35 2186 2002-11-27 2003-11-28 2015-12-04 2023-03-15 341880 ENSG00000151812 OTTHUMG00000171317 uc059bxf.1 NM_001306087 "CCDS86392|CCDS76684" A4IF30 MGI:1922538 RGD:1561109 SLC35F4 objectId:1159 HGNC:19845 "ENST00000556826.6|NM_001306087.2" -HGNC:23617 SLC35F5 solute carrier family 35 member F5 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 FLJ22004 solute carrier family 35, member F5 "MicroRNA protein coding host genes|Solute carrier family 35" "1691|2186" 2003-11-25 2015-12-04 2023-01-20 80255 ENSG00000115084 OTTHUMG00000131361 uc002tku.2 AF529364 NM_025181 "CCDS86878|CCDS82503|CCDS2119" Q8WV83 MGI:1921400 RGD:1308125 619997 SLC35F5 objectId:1160 HGNC:23617 "ENST00000245680.7|NM_025181.5" HGNC:23617 +HGNC:23617 SLC35F5 solute carrier family 35 member F5 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 FLJ22004 solute carrier family 35, member F5 "MicroRNA protein coding host genes|Solute carrier family 35" "1691|2186" 2003-11-25 2015-12-04 2023-01-20 80255 ENSG00000115084 OTTHUMG00000131361 uc002tku.2 AF529364 NM_025181 "CCDS82503|CCDS86878|CCDS2119" Q8WV83 MGI:1921400 RGD:1308125 619997 SLC35F5 objectId:1160 HGNC:23617 "ENST00000245680.7|NM_025181.5" HGNC:23617 HGNC:26055 SLC35F6 solute carrier family 35 member F6 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ20555|ANT2BP|TANGO9" "ANT2-binding protein|transport and golgi organization 9 homolog (Drosophila)" C2orf18 "chromosome 2 open reading frame 18|solute carrier family 35, member F6" Solute carrier family 35 2186 2004-01-14 2012-12-07 2015-12-04 2023-03-15 54978 ENSG00000213699 OTTHUMG00000128407 uc002rhp.2 AK075164 NM_017877 CCDS1728 Q8N357 "15911612|19154410" MGI:1922169 RGD:1309228 619667 SLC35F6 objectId:2564 HGNC:26055 "ENST00000344420.10|NM_017877.4" HGNC:26607 SLC35G1 solute carrier family 35 member G1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "FLJ33990|C10orf60|POST" partner of STIM1 TMEM20 "transmembrane protein 20|solute carrier family 35, member G1" Solute carrier family 35 2186 2004-03-04 2011-08-03 2015-12-04 2023-01-20 159371 ENSG00000176273 OTTHUMG00000018779 uc001kjf.3 AK091309 NM_153226 "CCDS44459|CCDS7432" Q2M3R5 "21569384|22084111" MGI:2444789 RGD:1595908 617167 SLC35G1 objectId:2565 HGNC:26607 "ENST00000427197.2|NM_001134658.3" HGNC:28480 SLC35G2 solute carrier family 35 member G2 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "MGC3295|DKFZp564K2464" TMEM22 "transmembrane protein 22|solute carrier family 35, member G2" Solute carrier family 35 2186 2004-03-04 2012-03-09 2015-12-04 2023-01-20 80723 ENSG00000168917 OTTHUMG00000159787 uc003erg.4 BC022557 NM_025246 CCDS3091 Q8TBE7 11230166 MGI:2685365 RGD:1306109 617812 SLC35G2 objectId:2566 HGNC:28480 "ENST00000446465.3|NM_025246.3" HGNC:28480 @@ -35817,120 +35820,120 @@ HGNC:26848 SLC35G3 solute carrier family 35 member G3 protein-coding gene gene w HGNC:31043 SLC35G4 solute carrier family 35 member G4 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "AMAC1L1|SLC35G4P" "acyl-malonyl condensing enzyme 1-like 1|solute carrier family 35, member G4, pseudogene|solute carrier family 35, member G4" Solute carrier family 35 2186 2004-11-12 2014-10-01 2015-12-04 2023-01-20 646000 ENSG00000236396 OTTHUMG00000180598 NM_001282300 CCDS82241 P0C7Q5 17101974 MGI:1927128 SLC35G4 PGOHUM00000263439 objectId:2568 HGNC:31043 "ENST00000588001.2|NM_001282300.2" HGNC:15546 SLC35G5 solute carrier family 35 member G5 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "AMAC|AMAC1L2" "acyl-malonyl condensing enzyme 1-like 2|solute carrier family 35, member G5" Solute carrier family 35 2186 2001-04-25 2011-08-03 2015-12-04 2023-01-20 83650 ENSG00000177710 OTTHUMG00000090653 uc003wtp.2 AJ291677 NM_054028 CCDS5980 Q96KT7 MGI:1927128 615199 SLC35G5 objectId:2569 HGNC:15546 "ENST00000382435.5|NM_054028.2" HGNC:31351 SLC35G6 solute carrier family 35 member G6 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "TMEM21B|AMAC1L3" "transmembrane protein 21B|acyl-malonyl condensing enzyme 1-like 3|solute carrier family 35, member G6" Solute carrier family 35 2186 2004-03-04 2011-08-03 2015-12-04 2023-01-20 643664 ENSG00000259224 OTTHUMG00000187017 uc010cmj.2 NM_001102614 CCDS45603 P0C7Q6 MGI:1927128 RGD:1308025 SLC35G6 objectId:2570 HGNC:31351 "ENST00000412468.4|NM_001102614.2" -HGNC:18761 SLC36A1 solute carrier family 36 member 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "LYAAT-1|PAT1|TRAMD3" solute carrier family 36 (proton/amino acid symporter), member 1 Solute carrier family 36 2187 2002-10-11 2016-02-17 2023-01-20 206358 ENSG00000123643 OTTHUMG00000130125 uc063ivf.1 AK057340 NM_078483 "CCDS83035|CCDS78073|CCDS4316" Q7Z2H8 "11959859|11390972" MGI:2445299 RGD:619801 606561 SLC36A1 objectId:1161 HGNC:18761 "ENST00000243389.8|NM_078483.4" +HGNC:18761 SLC36A1 solute carrier family 36 member 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "LYAAT-1|PAT1|TRAMD3" solute carrier family 36 (proton/amino acid symporter), member 1 Solute carrier family 36 2187 2002-10-11 2016-02-17 2023-01-20 206358 ENSG00000123643 OTTHUMG00000130125 uc063ivf.1 AK057340 NM_078483 "CCDS4316|CCDS83035|CCDS78073" Q7Z2H8 "11959859|11390972" MGI:2445299 RGD:619801 606561 SLC36A1 objectId:1161 HGNC:18761 "ENST00000243389.8|NM_078483.4" HGNC:18762 SLC36A2 solute carrier family 36 member 2 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "PAT2|tramdorin|TRAMD1" solute carrier family 36 (proton/amino acid symporter), member 2 Solute carrier family 36 2187 2003-01-13 2016-02-17 2023-01-20 153201 ENSG00000186335 OTTHUMG00000130129 uc003lty.3 AY162214 NM_181776 CCDS4315 Q495M3 11959859 MGI:1891430 RGD:620492 608331 SLC36A2 173500 objectId:1162 HGNC:18762 "ENST00000335244.9|NM_181776.3" HGNC:18762 HGNC:19659 SLC36A3 solute carrier family 36 member 3 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "PAT3|TRAMD2|tramdorin2" solute carrier family 36, member 3 Solute carrier family 36 2187 2003-08-01 2015-12-08 2023-01-20 285641 ENSG00000186334 OTTHUMG00000130128 uc003ltw.3 AY162215 NM_181774 "CCDS4314|CCDS47316" Q495N2 12809675 MGI:2665001 RGD:1309092 608332 SLC36A3 objectId:1163 HGNC:19659 "ENST00000335230.8|NM_181774.4" -HGNC:19660 SLC36A4 solute carrier family 36 member 4 protein-coding gene gene with protein product Approved 11q21 11q21 "PAT4|FLJ38932" solute carrier family 36 (proton/amino acid symporter), member 4 Solute carrier family 36 2187 2003-08-08 2016-02-17 2023-01-20 120103 ENSG00000180773 OTTHUMG00000167368 uc001pdn.5 AY162216 NM_001286139 "CCDS66202|CCDS8291" Q6YBV0 MGI:2442595 RGD:1311528 613760 SLC36A4 objectId:1164 HGNC:19660 "ENST00000326402.9|NM_152313.4" +HGNC:19660 SLC36A4 solute carrier family 36 member 4 protein-coding gene gene with protein product Approved 11q21 11q21 "PAT4|FLJ38932" solute carrier family 36 (proton/amino acid symporter), member 4 Solute carrier family 36 2187 2003-08-08 2016-02-17 2023-01-20 120103 ENSG00000180773 OTTHUMG00000167368 uc001pdn.5 AY162216 NM_001286139 "CCDS8291|CCDS66202" Q6YBV0 MGI:2442595 RGD:1311528 613760 SLC36A4 objectId:1164 HGNC:19660 "ENST00000326402.9|NM_152313.4" HGNC:11024 SLC37A1 solute carrier family 37 member 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 SPX1 sugar-phosphate exchange protein 1 "solute carrier family 37 (glycerol-3-phosphate transporter), member 1|solute carrier family 37 (glucose-6-phosphate transporter), member 1" Solute carrier family 37 2189 2000-05-23 2016-02-17 2023-01-20 54020 ENSG00000160190 OTTHUMG00000086803 uc002zbi.3 AJ269529 NM_001320537 CCDS13689 P57057 11112347 MGI:2446181 RGD:1308587 608094 SLC37A1 objectId:1165 HGNC:11024 "ENST00000352133.3|NM_001320537.2" -HGNC:20644 SLC37A2 solute carrier family 37 member 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FLJ00171|SPX2" sugar-phosphate exchange protein 2 "solute carrier family 37 (glycerol-3-phosphate transporter), member 2|solute carrier family 37 (glucose-6-phosphate transporter), member 2" Solute carrier family 37 2189 2003-03-14 2016-02-17 2023-01-20 219855 ENSG00000134955 OTTHUMG00000165879 uc010sau.3 AK074100 NM_198277 "CCDS31714|CCDS44757" Q8TED4 MGI:1929693 RGD:1564160 619136 SLC37A2 objectId:1166 HGNC:20644 "ENST00000403796.7|NM_001145290.2" -HGNC:20651 SLC37A3 solute carrier family 37 member 3 protein-coding gene gene with protein product Approved 7q34 07q34 "DKFZp761N0624|SPX3" sugar-phosphate exchange protein 3 solute carrier family 37, member 3 Solute carrier family 37 2189 2003-03-14 2015-12-08 2023-01-20 84255 ENSG00000157800 OTTHUMG00000157343 uc003vvo.5 AK074823 NM_032295 "CCDS5859|CCDS5858|CCDS75669" Q8NCC5 MGI:1919394 RGD:1310346 619137 SLC37A3 objectId:1167 HGNC:20651 "ENST00000326232.14|NM_207113.3" +HGNC:20644 SLC37A2 solute carrier family 37 member 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FLJ00171|SPX2" sugar-phosphate exchange protein 2 "solute carrier family 37 (glycerol-3-phosphate transporter), member 2|solute carrier family 37 (glucose-6-phosphate transporter), member 2" Solute carrier family 37 2189 2003-03-14 2016-02-17 2023-01-20 219855 ENSG00000134955 OTTHUMG00000165879 uc010sau.3 AK074100 NM_198277 "CCDS44757|CCDS31714" Q8TED4 MGI:1929693 RGD:1564160 619136 SLC37A2 objectId:1166 HGNC:20644 "ENST00000403796.7|NM_001145290.2" +HGNC:20651 SLC37A3 solute carrier family 37 member 3 protein-coding gene gene with protein product Approved 7q34 07q34 "DKFZp761N0624|SPX3" sugar-phosphate exchange protein 3 solute carrier family 37, member 3 Solute carrier family 37 2189 2003-03-14 2015-12-08 2023-01-20 84255 ENSG00000157800 OTTHUMG00000157343 uc003vvo.5 AK074823 NM_032295 "CCDS75669|CCDS5858|CCDS5859" Q8NCC5 MGI:1919394 RGD:1310346 619137 SLC37A3 objectId:1167 HGNC:20651 "ENST00000326232.14|NM_207113.3" HGNC:4061 SLC37A4 solute carrier family 37 member 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "GSD1b|GSD1c|GSD1d|G6PT|SPX4" "Glucose-6-phosphate exchanger SLC37A4|glucose-6-phosphatase transporter|sugar-phosphate exchange protein 4" "G6PT1|G6PT2|G6PT3" "glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1|solute carrier family 37 (glucose-6-phosphate transporter), member 4" Solute carrier family 37 2189 1998-07-15 2003-09-10 2016-02-17 2022-08-03 2542 ENSG00000137700 OTTHUMG00000166352 uc058idd.1 Y15409 NM_001467 O43826 "9428641|9463334|10026167|24385852" MGI:1316650 RGD:62066 LRG_187|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_187.xml 602671 SLC37A4 119474 objectId:1168 HGNC:4061 HGNC:4061 HGNC:13447 SLC38A1 solute carrier family 38 member 1 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "ATA1|NAT2|SAT1|SNAT1" Sodium-coupled neutral amino acid transporter 1 solute carrier family 38, member 1 Solute carrier family 38 2188 2002-01-22 2015-12-08 2023-01-20 81539 ENSG00000111371 OTTHUMG00000169470 uc001rpb.5 AF271070 NM_001077484 "CCDS61106|CCDS41774" Q9H2H9 10891391 MGI:2145895 RGD:69645 608490 SLC38A1 objectId:1169 HGNC:13447 "ENST00000398637.10|NM_030674.4" -HGNC:13448 SLC38A2 solute carrier family 38 member 2 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "SAT2|ATA2|KIAA1382|SNAT2" Sodium-coupled neutral amino acid transporter 2 solute carrier family 38, member 2 Solute carrier family 38 2188 2002-01-25 2015-12-08 2023-01-20 54407 ENSG00000134294 OTTHUMG00000169471 uc001rpg.4 AB037803 NM_001307936 "CCDS8749|CCDS76551" Q96QD8 "10747860|17237199" MGI:1915010 RGD:69420 605180 SLC38A2 objectId:1170 HGNC:13448 "ENST00000256689.10|NM_018976.5" +HGNC:13448 SLC38A2 solute carrier family 38 member 2 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "SAT2|ATA2|KIAA1382|SNAT2" Sodium-coupled neutral amino acid transporter 2 solute carrier family 38, member 2 Solute carrier family 38 2188 2002-01-25 2015-12-08 2023-01-20 54407 ENSG00000134294 OTTHUMG00000169471 uc001rpg.4 AB037803 NM_001307936 "CCDS76551|CCDS8749" Q96QD8 "10747860|17237199" MGI:1915010 RGD:69420 605180 SLC38A2 objectId:1170 HGNC:13448 "ENST00000256689.10|NM_018976.5" HGNC:55454 SLC38A2-AS1 SLC38A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.11 12q13.11 Antisense RNAs 1987 2021-01-20 2021-01-20 102723757 ENSG00000258096 XR_001749103 HGNC:18044 SLC38A3 solute carrier family 38 member 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "G17|SN1|SNAT3" Sodium-coupled neutral amino acid transporter 3 solute carrier family 38, member 3 Solute carrier family 38 2188 2002-01-22 2015-12-08 2023-01-20 10991 ENSG00000188338 OTTHUMG00000156764 uc032rmu.2 U49082 NM_006841 CCDS74940 Q99624 "10619430|10823827" MGI:1923507 RGD:628620 604437 SLC38A3 objectId:1172 HGNC:18044 "ENST00000614032.5|NM_006841.6" HGNC:14679 SLC38A4 solute carrier family 38 member 4 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "PAAT|NAT3|ATA3|SNAT4" Sodium-coupled neutral amino acid transporter 4 solute carrier family 38, member 4 Solute carrier family 38 2188 2002-01-25 2015-12-08 2023-01-20 55089 ENSG00000139209 OTTHUMG00000169518 uc001rpj.2 AF193836 NM_001143824 CCDS8750 Q969I6 11414754 MGI:1916604 RGD:621836 608065 SLC38A4 objectId:1171 HGNC:14679 "ENST00000266579.9|NM_018018.5" HGNC:56178 SLC38A4-AS1 SLC38A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.11 12q13.11 Antisense RNAs 1987 2022-01-14 2022-01-14 100288798 ENSG00000257261 NR_125377 HGNC:18070 SLC38A5 solute carrier family 38 member 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "SN2|JM24|SNAT5" Sodium-coupled neutral amino acid transporter 5 solute carrier family 38, member 5 Solute carrier family 38 2188 2002-01-25 2015-12-08 2023-01-20 92745 ENSG00000017483 OTTHUMG00000024117 uc033ecm.1 AF276889 NM_033518 CCDS14293 Q8WUX1 11243884 MGI:2148066 RGD:620702 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC38A5 300649 SLC38A5 objectId:1173 HGNC:18070 "ENST00000620913.5|NM_033518.4" HGNC:19863 SLC38A6 solute carrier family 38 member 6 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "NAT-1|SNAT6" Sodium-coupled neutral amino acid transporter 6 solute carrier family 38, member 6 Solute carrier family 38 2188 2002-12-10 2015-12-08 2023-01-20 145389 ENSG00000139974 OTTHUMG00000140335 uc001xfg.3 AF070578 NM_001172702 "CCDS53900|CCDS9751" Q8IZM9 MGI:3648156 RGD:1310330 616518 SLC38A6 objectId:1174 HGNC:19863 "ENST00000267488.9|NM_153811.3" -HGNC:25582 SLC38A7 solute carrier family 38 member 7 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ10815|SNAT7" Sodium-coupled neutral amino acid transporter 7 solute carrier family 38, member 7 Solute carrier family 38 2188 2008-01-22 2015-12-08 2023-01-20 55238 ENSG00000103042 OTTHUMG00000133491 uc002eod.2 BC001961 NM_018231 "CCDS10800|CCDS76883" Q9NVC3 MGI:2679005 RGD:1303268 614236 SLC38A7 objectId:1175 HGNC:25582 "ENST00000219320.9|NM_018231.3" +HGNC:25582 SLC38A7 solute carrier family 38 member 7 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ10815|SNAT7" Sodium-coupled neutral amino acid transporter 7 solute carrier family 38, member 7 Solute carrier family 38 2188 2008-01-22 2015-12-08 2023-01-20 55238 ENSG00000103042 OTTHUMG00000133491 uc002eod.2 BC001961 NM_018231 "CCDS76883|CCDS10800" Q9NVC3 MGI:2679005 RGD:1303268 614236 SLC38A7 objectId:1175 HGNC:25582 "ENST00000219320.9|NM_018231.3" HGNC:32434 SLC38A8 solute carrier family 38 member 8 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 SNAT8 Putative sodium-coupled neutral amino acid transporter 8 solute carrier family 38, member 8 Solute carrier family 38 2188 2008-02-18 2015-12-08 2023-01-20 146167 ENSG00000166558 OTTHUMG00000176588 uc002fhg.1 NM_001080442 CCDS32495 A6NNN8 24290379 MGI:2685433 RGD:1560237 615585 SLC38A8 400638 objectId:1176 HGNC:32434 "ENST00000299709.8|NM_001080442.3" HGNC:32434 -HGNC:26907 SLC38A9 solute carrier family 38 member 9 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "FLJ90709|SNAT9" Sodium-coupled neutral amino acid transporter 9 solute carrier family 38, member 9 Solute carrier family 38 2188 2008-02-18 2015-12-08 2023-03-09 153129 ENSG00000177058 OTTHUMG00000131189 uc003jqf.3 NM_173514 "CCDS58948|CCDS3968|CCDS75243|CCDS58947" Q8NBW4 "25561175|25567906" MGI:1918839 RGD:1311881 616203 SLC38A9 objectId:1177 HGNC:26907 "ENST00000396865.7|NM_173514.4" HGNC:26907 +HGNC:26907 SLC38A9 solute carrier family 38 member 9 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "FLJ90709|SNAT9" Sodium-coupled neutral amino acid transporter 9 solute carrier family 38, member 9 Solute carrier family 38 2188 2008-02-18 2015-12-08 2023-03-09 153129 ENSG00000177058 OTTHUMG00000131189 uc003jqf.3 NM_173514 "CCDS58948|CCDS75243|CCDS3968|CCDS58947" Q8NBW4 "25561175|25567906" MGI:1918839 RGD:1311881 616203 SLC38A9 objectId:1177 HGNC:26907 "ENST00000396865.7|NM_173514.4" HGNC:26907 HGNC:28237 SLC38A10 solute carrier family 38 member 10 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC15523|PP1744|SNAT10" Sodium-coupled neutral amino acid transporter 10 solute carrier family 38, member 10 Solute carrier family 38 2188 2008-02-18 2015-12-08 2023-01-20 124565 ENSG00000157637 OTTHUMG00000168049 uc002kab.5 BC014642 NM_138570 "CCDS42397|CCDS11780" Q9HBR0 "18418736|28593130" MGI:1919305 RGD:1306356 616525 SLC38A10 objectId:1178 HGNC:28237 "ENST00000374759.8|NM_001037984.3" -HGNC:26836 SLC38A11 solute carrier family 38 member 11 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "FLJ39822|AVT2" solute carrier family 38, member 11 Solute carrier family 38 2188 2008-02-18 2015-12-08 2023-01-20 151258 ENSG00000169507 OTTHUMG00000132144 uc002ucu.3 NM_173512 "CCDS56142|CCDS92885|CCDS2224" Q08AI6 MGI:2443383 RGD:1306005 616526 SLC38A11 objectId:1179 HGNC:26836 "ENST00000685975.1|NM_001351537.2" -HGNC:12876 SLC39A1 solute carrier family 39 member 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 ZIP1 "zinc transporter 1|ZRT/IRT-like protein 1" ZIRTL "zinc/iron regulated transporter-like|solute carrier family 39 (zinc transporter), member 1" "MicroRNA protein coding host genes|Solute carrier family 39 " "1691|2153" 2000-02-07 2002-02-15 2016-02-17 2023-01-20 27173 ENSG00000143570 OTTHUMG00000037158 uc031ppi.1 BC007886 NM_014437 "CCDS72920|CCDS1055" Q9NY26 "10610721|10681536" MGI:1353474 RGD:1305241 604740 SLC39A1 objectId:1180 HGNC:12876 "ENST00000356205.9|NM_001271958.2" -HGNC:17127 SLC39A2 solute carrier family 39 member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 ZIP2 "zinc transporter 2|ZRT/IRT-like protein 2" solute carrier family 39 (zinc transporter), member 2 Solute carrier family 39 2153 2002-02-12 2016-02-17 2023-01-20 29986 ENSG00000165794 OTTHUMG00000029616 uc001vyr.4 AF186081 NM_014579 "CCDS9563|CCDS58303" Q9NP94 "10681536|7751801" MGI:2684326 RGD:1306291 612166 SLC39A2 objectId:1181 HGNC:17127 "ENST00000298681.5|NM_014579.4" +HGNC:26836 SLC38A11 solute carrier family 38 member 11 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "FLJ39822|AVT2" solute carrier family 38, member 11 Solute carrier family 38 2188 2008-02-18 2015-12-08 2023-01-20 151258 ENSG00000169507 OTTHUMG00000132144 uc002ucu.3 NM_173512 "CCDS92885|CCDS2224|CCDS56142" Q08AI6 MGI:2443383 RGD:1306005 616526 SLC38A11 objectId:1179 HGNC:26836 "ENST00000685975.1|NM_001351537.2" +HGNC:12876 SLC39A1 solute carrier family 39 member 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 ZIP1 "zinc transporter 1|ZRT/IRT-like protein 1" ZIRTL "zinc/iron regulated transporter-like|solute carrier family 39 (zinc transporter), member 1" "MicroRNA protein coding host genes|Solute carrier family 39 " "1691|2153" 2000-02-07 2002-02-15 2016-02-17 2023-01-20 27173 ENSG00000143570 OTTHUMG00000037158 uc031ppi.1 BC007886 NM_014437 "CCDS1055|CCDS72920" Q9NY26 "10610721|10681536" MGI:1353474 RGD:1305241 604740 SLC39A1 objectId:1180 HGNC:12876 "ENST00000356205.9|NM_001271958.2" +HGNC:17127 SLC39A2 solute carrier family 39 member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 ZIP2 "zinc transporter 2|ZRT/IRT-like protein 2" solute carrier family 39 (zinc transporter), member 2 Solute carrier family 39 2153 2002-02-12 2016-02-17 2023-01-20 29986 ENSG00000165794 OTTHUMG00000029616 uc001vyr.4 AF186081 NM_014579 "CCDS58303|CCDS9563" Q9NP94 "10681536|7751801" MGI:2684326 RGD:1306291 612166 SLC39A2 objectId:1181 HGNC:17127 "ENST00000298681.5|NM_014579.4" HGNC:17128 SLC39A3 solute carrier family 39 member 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ZIP3 "zinc transporter 3|ZRT/IRT-like protein 3" solute carrier family 39 (zinc transporter), member 3 Solute carrier family 39 2153 2002-02-12 2016-02-17 2023-01-20 29985 ENSG00000141873 OTTHUMG00000180440 uc002lwg.4 AF052125 NM_144564 "CCDS45909|CCDS12093" Q9BRY0 10681536 MGI:2147269 RGD:1310863 612168 SLC39A3 objectId:1182 HGNC:17128 "ENST00000269740.9|NM_144564.5" HGNC:17129 SLC39A4 solute carrier family 39 member 4 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "ZIP4|ZIP-4|AWMS2" "zinc transporter 4|ZRT/IRT-like protein 4|Zinc transporter ZIP4" AEZ "acrodermatitis enteropathica, zinc-deficiency type|solute carrier family 39 (zinc transporter), member 4" Solute carrier family 39 2153 2002-02-13 2016-02-17 2023-01-20 55630 ENSG00000147804 OTTHUMG00000165208 uc003zcq.4 AK025537 NM_001280557 "CCDS43782|CCDS6424" Q6P5W5 "12801924|12659941|14709598|12068297" MGI:1919277 RGD:1306701 607059 SLC39A4 119482 objectId:1183 HGNC:17129 "ENST00000301305.8|NM_130849.4" HGNC:17129 HGNC:20502 SLC39A5 solute carrier family 39 member 5 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 ZIP5 "zinc transporter 5|ZRT/IRT-like protein 5" "solute carrier family 39 (metal ion transporter), member 5|solute carrier family 39 (zinc transporter), member 5" Solute carrier family 39 2153 2003-10-08 2016-02-17 2023-01-20 283375 ENSG00000139540 OTTHUMG00000156962 uc010sqj.3 NM_173596 CCDS8912 Q6ZMH5 MGI:1919336 RGD:1310322 608730 SLC39A5 objectId:1184 HGNC:20502 "ENST00000454355.7|NM_173596.3" -HGNC:18607 SLC39A6 solute carrier family 39 member 6 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "LIV-1|ZIP6" "zinc transporter 6|ZRT/IRT-like protein 6" "solute carrier family 39 (metal ion transporter), member 6|solute carrier family 39 (zinc transporter), member 6" Solute carrier family 39 2153 2003-10-08 2016-02-17 2023-01-20 25800 ENSG00000141424 OTTHUMG00000178965 uc010dmy.4 U41060 NM_001099406 "CCDS42428|CCDS45854" Q13433 "12659941|12839489" MGI:2147279 RGD:1304664 608731 SLC39A6 objectId:1185 HGNC:18607 "ENST00000269187.10|NM_012319.4" -HGNC:4927 SLC39A7 solute carrier family 39 member 7 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "H2-KE4|D6S2244E|KE4|RING5|ZIP7" "zinc transporter 7|ZRT/IRT-like protein 7" HKE4 "HLA class II region expressed gene KE4|solute carrier family 39 (zinc transporter), member 7" Solute carrier family 39 2153 2000-07-25 2003-10-27 2016-02-17 2023-01-20 7922 ENSG00000112473 OTTHUMG00000031238 uc003odf.4 AF117221 NM_006979 CCDS43453 Q92504 "8812499|1855816|19246244|15705588" MGI:95909 RGD:1593280 601416 SLC39A7 objectId:1186 HGNC:4927 "ENST00000374677.8|NM_006979.3" HGNC:4927 +HGNC:18607 SLC39A6 solute carrier family 39 member 6 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "LIV-1|ZIP6" "zinc transporter 6|ZRT/IRT-like protein 6" "solute carrier family 39 (metal ion transporter), member 6|solute carrier family 39 (zinc transporter), member 6" Solute carrier family 39 2153 2003-10-08 2016-02-17 2023-01-20 25800 ENSG00000141424 OTTHUMG00000178965 uc010dmy.4 U41060 NM_001099406 "CCDS45854|CCDS42428" Q13433 "12659941|12839489" MGI:2147279 RGD:1304664 608731 SLC39A6 objectId:1185 HGNC:18607 "ENST00000269187.10|NM_012319.4" +HGNC:4927 SLC39A7 solute carrier family 39 member 7 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "H2-KE4|D6S2244E|KE4|RING5|ZIP7" "zinc transporter 7|ZRT/IRT-like protein 7" HKE4 "HLA class II region expressed gene KE4|solute carrier family 39 (zinc transporter), member 7" Solute carrier family 39 2153 2000-07-25 2003-10-27 2016-02-17 2023-06-15 7922 ENSG00000112473 OTTHUMG00000031238 uc003odf.4 AF117221 NM_006979 CCDS43453 Q92504 "8812499|1855816|19246244|15705588" MGI:95909 RGD:1593280 601416 SLC39A7 objectId:1186 HGNC:4927 "ENST00000374677.8|NM_006979.3" HGNC:4927 HGNC:20862 SLC39A8 solute carrier family 39 member 8 protein-coding gene gene with protein product Approved 4q24 04q24 "BIGM103|ZIP8|ZIP-8" "Metal cation symporter ZIP8|BCG-induced integral membrane protein in monocyte clone 103|ZRT/IRT-like protein 8|Zinc transporter ZIP8" "solute carrier family 39 (metal ion transporter), member 8|solute carrier family 39 (zinc transporter), member 8" Solute carrier family 39 2153 2003-10-08 2016-02-17 2023-03-15 64116 ENSG00000138821 OTTHUMG00000131120 uc011ceo.2 NM_022154 CCDS3656 Q9C0K1 "12504855|12659941|31521203" MGI:1914797 RGD:1308236 608732 SLC39A8 476906 objectId:1187 HGNC:20862 "ENST00000356736.5|NM_001135146.2" HGNC:20862 -HGNC:20182 SLC39A9 solute carrier family 39 member 9 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "FLJ11274|ZIP9" "zinc transporter 9|ZRT/IRT-like protein 9" solute carrier family 39, member 9 Solute carrier family 39 2153 2003-10-08 2015-12-08 2023-01-20 55334 ENSG00000029364 OTTHUMG00000171232 uc001xle.5 NM_018375 "CCDS81816|CCDS9795|CCDS58328|CCDS58327" Q9NUM3 MGI:1914820 RGD:1311236 619116 SLC39A9 objectId:1188 HGNC:20182 "ENST00000336643.10|NM_018375.5" +HGNC:20182 SLC39A9 solute carrier family 39 member 9 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "FLJ11274|ZIP9" "zinc transporter 9|ZRT/IRT-like protein 9" solute carrier family 39, member 9 Solute carrier family 39 2153 2003-10-08 2015-12-08 2023-01-20 55334 ENSG00000029364 OTTHUMG00000171232 uc001xle.5 NM_018375 "CCDS81816|CCDS58327|CCDS58328|CCDS9795" Q9NUM3 MGI:1914820 RGD:1311236 619116 SLC39A9 objectId:1188 HGNC:20182 "ENST00000336643.10|NM_018375.5" HGNC:20861 SLC39A10 solute carrier family 39 member 10 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "KIAA1265|FLJ90515|DKFZp564L2123|ZIP10" "zinc transporter 10|ZRT/IRT-like protein 10" "solute carrier family 39 (metal ion transporter), member 10|solute carrier family 39 (zinc transporter), member 10" Solute carrier family 39 2153 2003-10-08 2016-02-17 2023-01-20 57181 ENSG00000196950 OTTHUMG00000154380 uc002utg.5 NM_001127257 CCDS33353 Q9ULF5 12659941 MGI:1914515 RGD:1307321 608733 SLC39A10 objectId:1189 HGNC:20861 "ENST00000359634.10|NM_020342.3" HGNC:14463 SLC39A11 solute carrier family 39 member 11 protein-coding gene gene with protein product Approved 17q24.3-q25.1 17q24.3-q25.1 ZIP11 "zinc transporter 11|ZRT/IRT-like protein 11" C17orf26 "chromosome 17 open reading frame 26|solute carrier family 39, member 11" Solute carrier family 39 2153 2001-03-05 2003-10-24 2015-12-08 2023-01-20 201266 ENSG00000133195 OTTHUMG00000178306 uc002jja.4 AF331643 NM_001159770 "CCDS11690|CCDS54160" Q8N1S5 11707075 MGI:1917056 RGD:1311981 616508 SLC39A11 objectId:1190 HGNC:14463 "ENST00000255559.8|NM_139177.4" -HGNC:20860 SLC39A12 solute carrier family 39 member 12 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 "FLJ30499|ZIP12" "zinc transporter 12|ZRT/IRT-like protein 12" "solute carrier family 39 (metal ion transporter), member 12|solute carrier family 39 (zinc transporter), member 12" Solute carrier family 39 2153 2003-10-08 2016-02-17 2023-01-20 221074 ENSG00000148482 OTTHUMG00000017759 uc001ipo.2 NM_152725 "CCDS60494|CCDS7124|CCDS44362|CCDS60493" Q504Y0 12659941 MGI:2139274 RGD:1309305 608734 SLC39A12 471084 objectId:1191 HGNC:20860 "ENST00000377369.7|NM_001145195.2" +HGNC:20860 SLC39A12 solute carrier family 39 member 12 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 "FLJ30499|ZIP12" "zinc transporter 12|ZRT/IRT-like protein 12" "solute carrier family 39 (metal ion transporter), member 12|solute carrier family 39 (zinc transporter), member 12" Solute carrier family 39 2153 2003-10-08 2016-02-17 2023-01-20 221074 ENSG00000148482 OTTHUMG00000017759 uc001ipo.2 NM_152725 "CCDS44362|CCDS60493|CCDS7124|CCDS60494" Q504Y0 12659941 MGI:2139274 RGD:1309305 608734 SLC39A12 471084 objectId:1191 HGNC:20860 "ENST00000377369.7|NM_001145195.2" HGNC:44881 SLC39A12-AS1 SLC39A12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.33 10p12.33 Antisense RNAs 1987 2012-12-11 2018-03-15 100129213 ENSG00000226083 OTTHUMG00000017758 uc001ipq.1 NR_038419 SLC39A12-AS1 HGNC:44881 -HGNC:20859 SLC39A13 solute carrier family 39 member 13 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ25785|LZT-Hs9|ZIP13|ZIP-13" "Zinc transporter ZIP13|ZRT/IRT-like protein 13|LIV-1 subfamily of ZIP zinc transporters human member 9|zinc transporter 13" "solute carrier family 39 (metal ion transporter), member 13|solute carrier family 39 (zinc transporter), member 13" Solute carrier family 39 2153 2003-10-08 2016-02-17 2023-01-20 91252 ENSG00000165915 OTTHUMG00000166890 uc001nff.5 NM_152264 "CCDS7934|CCDS44592|CCDS81564" Q96H72 "12659941|18985159|21917916" MGI:1915677 RGD:1304695 608735 SLC39A13 159403 objectId:1192 HGNC:20859 "ENST00000362021.9|NM_001128225.3" HGNC:20859 +HGNC:20859 SLC39A13 solute carrier family 39 member 13 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ25785|LZT-Hs9|ZIP13|ZIP-13" "Zinc transporter ZIP13|ZRT/IRT-like protein 13|LIV-1 subfamily of ZIP zinc transporters human member 9|zinc transporter 13" "solute carrier family 39 (metal ion transporter), member 13|solute carrier family 39 (zinc transporter), member 13" Solute carrier family 39 2153 2003-10-08 2016-02-17 2023-01-20 91252 ENSG00000165915 OTTHUMG00000166890 uc001nff.5 NM_152264 "CCDS81564|CCDS44592|CCDS7934" Q96H72 "12659941|18985159|21917916" MGI:1915677 RGD:1304695 608735 SLC39A13 159403 objectId:1192 HGNC:20859 "ENST00000362021.9|NM_001128225.3" HGNC:20859 HGNC:56351 SLC39A13-AS1 SLC39A13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 AC090559.1 Antisense RNAs 1987 2022-10-06 2023-05-10 127138868 ENSG00000255197 NR_182304 35844445 -HGNC:20858 SLC39A14 solute carrier family 39 member 14 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "KIAA0062|NET34|ZIP14|ZIP-14" "zinc transporter 14|ZRT/IRT-like protein 14|Metal cation symporter ZIP14" "solute carrier family 39 (metal ion transporter), member 14|solute carrier family 39 (zinc transporter), member 14" Solute carrier family 39 2153 2003-10-23 2016-02-17 2023-01-20 23516 ENSG00000104635 OTTHUMG00000097791 uc003xbp.5 D31887 NM_001128431 "CCDS47823|CCDS47822|CCDS6030" Q15043 "12659941|28541650" MGI:2384851 RGD:1307026 608736 SLC39A14 objectId:1193 HGNC:20858 "ENST00000381237.6|NM_001128431.4" HGNC:20858 +HGNC:20858 SLC39A14 solute carrier family 39 member 14 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "KIAA0062|NET34|ZIP14|ZIP-14" "zinc transporter 14|ZRT/IRT-like protein 14|Metal cation symporter ZIP14" "solute carrier family 39 (metal ion transporter), member 14|solute carrier family 39 (zinc transporter), member 14" Solute carrier family 39 2153 2003-10-23 2016-02-17 2023-01-20 23516 ENSG00000104635 OTTHUMG00000097791 uc003xbp.5 D31887 NM_001128431 "CCDS6030|CCDS47823|CCDS47822" Q15043 "12659941|28541650" MGI:2384851 RGD:1307026 608736 SLC39A14 objectId:1193 HGNC:20858 "ENST00000381237.6|NM_001128431.4" HGNC:20858 HGNC:10909 SLC40A1 solute carrier family 40 member 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "MTP1|IREG1|FPN1|HFE4|FPN" "ferroportin 1|iron regulated gene 1|SLC40 iron transporter" SLC11A3 "solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3|solute carrier family 40 (iron-regulated transporter), member 1" Solute carrier family 40 2190 2000-01-04 2003-06-05 2016-02-17 2023-01-20 30061 ENSG00000138449 OTTHUMG00000132662 uc002uqp.5 AF215636 NM_014585 CCDS2299 Q9NP59 "10828623|15692071|28930842" MGI:1315204 RGD:620180 LRG_837|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_837.xml 604653 SLC40A1 119486 objectId:1194 HGNC:10909 "ENST00000261024.7|NM_014585.6" HGNC:10909 HGNC:19429 SLC41A1 solute carrier family 41 member 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 MgtE solute carrier family 41 (magnesium transporter), member 1 Solute carrier family 41 2191 2003-02-26 2016-02-17 2023-01-20 254428 ENSG00000133065 OTTHUMG00000036000 uc001hdh.2 AJ514402 NM_173854 CCDS30988 Q8IVJ1 "12810078|18367447" MGI:2444823 RGD:1311397 610801 SLC41A1 471088 objectId:1195 HGNC:19429 "ENST00000367137.4|NM_173854.6" HGNC:19429 HGNC:31045 SLC41A2 solute carrier family 41 member 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 DKFZP434K0427 "solute carrier family 41, member 2|solute carrier family 41 (magnesium transporter), member 2" Solute carrier family 41 2191 2004-03-11 2016-02-17 2023-01-20 84102 ENSG00000136052 OTTHUMG00000156965 uc001tla.4 BC036734 NM_032148 CCDS9100 Q96JW4 MGI:2442940 RGD:1307292 610802 SLC41A2 objectId:1196 HGNC:31045 "ENST00000258538.8|NM_001352171.3" -HGNC:31046 SLC41A3 solute carrier family 41 member 3 protein-coding gene gene with protein product Approved 3q21.2-q21.3 03q21.2-q21.3 FLJ20473 solute carrier family 41, member 3 Solute carrier family 41 2191 2004-01-26 2015-12-08 2023-01-20 54946 ENSG00000114544 OTTHUMG00000162678 uc062njm.1 NM_017836 "CCDS33842|CCDS43144|CCDS54635|CCDS33844|CCDS33843" Q96GZ6 MGI:1918949 RGD:1589573 610803 SLC41A3 objectId:1197 HGNC:31046 "ENST00000360370.9|NM_017836.4" +HGNC:31046 SLC41A3 solute carrier family 41 member 3 protein-coding gene gene with protein product Approved 3q21.2-q21.3 03q21.2-q21.3 FLJ20473 solute carrier family 41, member 3 Solute carrier family 41 2191 2004-01-26 2015-12-08 2023-01-20 54946 ENSG00000114544 OTTHUMG00000162678 uc062njm.1 NM_017836 "CCDS33844|CCDS43144|CCDS54635|CCDS33842|CCDS33843" Q96GZ6 MGI:1918949 RGD:1589573 610803 SLC41A3 objectId:1197 HGNC:31046 "ENST00000360370.9|NM_017836.4" HGNC:55559 SLC41A3-AS1 SLC41A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.2 03q21.2 Antisense RNAs 1987 2021-04-08 2021-04-08 112267887 ENSG00000250012 HGNC:9225 SLC43A1 solute carrier family 43 member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "R00504|PB39" POV1 "prostate cancer overexpressed gene 1|solute carrier family 43 (amino acid system L transporter), member 1" Solute carrier family 43 2193 1998-10-02 2003-09-12 2016-02-17 2023-01-20 8501 ENSG00000149150 OTTHUMG00000167030 uc001nkl.4 AF045584 NM_003627 CCDS7958 O75387 "9255310|9722952" MGI:1931352 RGD:1308229 603733 SLC43A1 objectId:1201 HGNC:9225 "ENST00000278426.8|NM_003627.6" -HGNC:23087 SLC43A2 solute carrier family 43 member 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 MGC34680 solute carrier family 43 (amino acid system L transporter), member 2 Solute carrier family 43 2193 2004-11-17 2016-02-17 2023-01-20 124935 ENSG00000167703 OTTHUMG00000090345 uc002fsv.5 BC027923 NM_152346 "CCDS67107|CCDS11006|CCDS67108" Q8N370 23268354 MGI:2442746 RGD:1305819 610791 SLC43A2 objectId:1202 HGNC:23087 "ENST00000301335.10|NM_152346.3" +HGNC:23087 SLC43A2 solute carrier family 43 member 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 MGC34680 solute carrier family 43 (amino acid system L transporter), member 2 Solute carrier family 43 2193 2004-11-17 2016-02-17 2023-01-20 124935 ENSG00000167703 OTTHUMG00000090345 uc002fsv.5 BC027923 NM_152346 "CCDS67108|CCDS11006|CCDS67107" Q8N370 23268354 MGI:2442746 RGD:1305819 610791 SLC43A2 objectId:1202 HGNC:23087 "ENST00000301335.10|NM_152346.3" HGNC:17466 SLC43A3 solute carrier family 43 member 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "SEEEG-1|Eeg1|DKFZp762A227|FOAP-13|PRO1659" likely ortholog of mouse embryonic epithelial gene 1 solute carrier family 43, member 3 Solute carrier family 43 2193 2004-02-16 2015-12-08 2023-01-20 29015 ENSG00000134802 OTTHUMG00000167113 uc001nki.4 AL157431 NM_017611 "CCDS60784|CCDS7956" Q8NBI5 "7531438|11704567" MGI:1931054 RGD:1312016 618034 SLC43A3 objectId:1203 HGNC:17466 "ENST00000395124.6|NM_199329.3" -HGNC:18798 SLC44A1 solute carrier family 44 member 1 protein-coding gene gene with protein product Approved 9q31.1-q31.2 09q31.1-q31.2 "CTL1|CHTL1|CD92" Choline transporter-like protein 1 CDW92 "CDW92 antigen|solute carrier family 44 (choline transporter), member 1" "CD molecules|Solute carrier family 44" "471|2194" 2004-02-06 2005-09-06 2016-02-17 2023-01-20 23446 ENSG00000070214 OTTHUMG00000020421 uc004bcn.5 AJ420812 NM_080546 "CCDS6763|CCDS83390|CCDS75868" Q8WWI5 "11698453|10677542|32333675" MGI:2140592 RGD:621426 606105 SLC44A1 objectId:1204 CDW92 HGNC:18798 "ENST00000374720.8|NM_080546.5" HGNC:18798 -HGNC:17292 SLC44A2 solute carrier family 44 member 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 CTL2 solute carrier family 44 (choline transporter), member 2 Solute carrier family 44 2194 2005-09-06 2016-02-17 2023-01-20 57153 ENSG00000129353 OTTHUMG00000180585 uc002mpf.4 AF070636 NM_001145056 "CCDS86700|CCDS12245|CCDS54216" Q8IWA5 "10677542|15715662" MGI:1915932 RGD:1309680 606106 SLC44A2 objectId:1205 HGNC:17292 "ENST00000335757.10|NM_020428.4" -HGNC:28689 SLC44A3 solute carrier family 44 member 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "MGC45474|CTL3" "solute carrier family, member 3|solute carrier family 44, member 3" Solute carrier family 44 2194 2005-09-06 2015-12-08 2023-01-20 126969 ENSG00000143036 OTTHUMG00000010700 uc001dqv.6 BC033858 NM_152369 "CCDS58011|CCDS58012|CCDS72827|CCDS44176|CCDS58013|CCDS751" Q8N4M1 "15715662|12975309" MGI:2384860 RGD:1305808 620328 SLC44A3 objectId:1206 HGNC:28689 "ENST00000271227.11|NM_001114106.3" +HGNC:18798 SLC44A1 solute carrier family 44 member 1 protein-coding gene gene with protein product Approved 9q31.1-q31.2 09q31.1-q31.2 "CTL1|CHTL1|CD92" Choline transporter-like protein 1 CDW92 "CDW92 antigen|solute carrier family 44 (choline transporter), member 1" "CD molecules|Solute carrier family 44" "471|2194" 2004-02-06 2005-09-06 2016-02-17 2023-01-20 23446 ENSG00000070214 OTTHUMG00000020421 uc004bcn.5 AJ420812 NM_080546 "CCDS83390|CCDS75868|CCDS6763" Q8WWI5 "11698453|10677542|32333675" MGI:2140592 RGD:621426 606105 SLC44A1 objectId:1204 CDW92 HGNC:18798 "ENST00000374720.8|NM_080546.5" HGNC:18798 +HGNC:17292 SLC44A2 solute carrier family 44 member 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 CTL2 solute carrier family 44 (choline transporter), member 2 Solute carrier family 44 2194 2005-09-06 2016-02-17 2023-01-20 57153 ENSG00000129353 OTTHUMG00000180585 uc002mpf.4 AF070636 NM_001145056 "CCDS86700|CCDS54216|CCDS12245" Q8IWA5 "10677542|15715662" MGI:1915932 RGD:1309680 606106 SLC44A2 objectId:1205 HGNC:17292 "ENST00000335757.10|NM_020428.4" +HGNC:28689 SLC44A3 solute carrier family 44 member 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "MGC45474|CTL3" "solute carrier family, member 3|solute carrier family 44, member 3" Solute carrier family 44 2194 2005-09-06 2015-12-08 2023-01-20 126969 ENSG00000143036 OTTHUMG00000010700 uc001dqv.6 BC033858 NM_152369 "CCDS58013|CCDS58012|CCDS72827|CCDS58011|CCDS44176|CCDS751" Q8N4M1 "15715662|12975309" MGI:2384860 RGD:1305808 620328 SLC44A3 objectId:1206 HGNC:28689 "ENST00000271227.11|NM_001114106.3" HGNC:49057 SLC44A3-AS1 SLC44A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 LINC01057 long intergenic non-protein coding RNA 1057 Antisense RNAs 1987 2013-08-19 2017-01-12 2017-01-12 2020-04-20 101928079 ENSG00000224081 OTTHUMG00000010701 BC030750 NR_104131 HGNC:49057 HGNC:54781 SLC44A3P1 SLC44A3 pseudogene 1 pseudogene pseudogene Approved 2q32.3 02q32.3 2020-01-08 2020-01-08 100420669 ENSG00000232658 NG_023755 -HGNC:13941 SLC44A4 solute carrier family 44 member 4 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "NG22|CTL4|FLJ14491|TPPT|DFNA72" C6orf29 "chromosome 6 open reading frame 29|solute carrier family 44, member 4" Solute carrier family 44 2194 2002-04-05 2005-09-06 2015-12-08 2023-01-20 80736 ENSG00000204385 OTTHUMG00000031133 uc063wub.1 AF134726 NM_001178044 "CCDS54989|CCDS4724|CCDS54990" Q53GD3 "10677542|15715662|24379411|28013291" MGI:1917379 RGD:1303167 606107 SLC44A4 objectId:1207 HGNC:13941 "ENST00000229729.11|NM_025257.3" HGNC:13941 -HGNC:28524 SLC44A5 solute carrier family 44 member 5 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "MGC34032|CTL5" solute carrier family 44, member 5 Solute carrier family 44 2194 2005-09-06 2015-12-08 2023-01-20 204962 ENSG00000137968 OTTHUMG00000009721 uc001dgu.4 BC034580 NM_152697 "CCDS44164|CCDS667" Q8NCS7 15715662 MGI:3035141 RGD:1564620 620329 SLC44A5 objectId:1208 HGNC:28524 "ENST00000370859.8|NM_001130058.2" +HGNC:13941 SLC44A4 solute carrier family 44 member 4 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "NG22|CTL4|FLJ14491|TPPT|DFNA72" C6orf29 "chromosome 6 open reading frame 29|solute carrier family 44, member 4" Solute carrier family 44 2194 2002-04-05 2005-09-06 2015-12-08 2023-01-20 80736 ENSG00000204385 OTTHUMG00000031133 uc063wub.1 AF134726 NM_001178044 "CCDS54990|CCDS54989|CCDS4724" Q53GD3 "10677542|15715662|24379411|28013291" MGI:1917379 RGD:1303167 606107 SLC44A4 objectId:1207 HGNC:13941 "ENST00000229729.11|NM_025257.3" HGNC:13941 +HGNC:28524 SLC44A5 solute carrier family 44 member 5 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "MGC34032|CTL5" solute carrier family 44, member 5 Solute carrier family 44 2194 2005-09-06 2015-12-08 2023-01-20 204962 ENSG00000137968 OTTHUMG00000009721 uc001dgu.4 BC034580 NM_152697 "CCDS667|CCDS44164" Q8NCS7 15715662 MGI:3035141 RGD:1564620 620329 SLC44A5 objectId:1208 HGNC:28524 "ENST00000370859.8|NM_001130058.2" HGNC:17939 SLC45A1 solute carrier family 45 member 1 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 H+/sugar symporter DNB5 "deleted in neuroblastoma 5|solute carrier family 45, member 1" Solute carrier family 45 2195 2003-03-06 2005-10-04 2015-12-08 2023-01-20 50651 ENSG00000162426 OTTHUMG00000000503 uc001apb.3 AF118274 NM_001080397 CCDS30577 Q9Y2W3 10729226 MGI:2653235 RGD:708502 605763 SLC45A1 objectId:1209 HGNC:17939 "ENST00000471889.7|NM_001080397.3" HGNC:17939 -HGNC:16472 SLC45A2 solute carrier family 45 member 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "AIM-1|OCA4" "oculocutaneous albinism type 4|antigen in melanoma 1" MATP "membrane associated transporter|solute carrier family 45, member 2" Solute carrier family 45 2195 2003-08-12 2005-10-06 2015-12-08 2023-01-20 51151 ENSG00000164175 OTTHUMG00000090719 uc003jid.4 AF172849 NM_016180 "CCDS3901|CCDS75232|CCDS43308" Q9UMX9 "11916009|11574907|22294196" MGI:2153040 RGD:1306690 "Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the Membrane-associated Transport Protein Gene (MATP)|http://www.retina-international.org/files/sci-news/matpmut.htm" 606202 SLC45A2 119665 objectId:1210 HGNC:16472 "ENST00000296589.9|NM_016180.5" HGNC:16472 +HGNC:16472 SLC45A2 solute carrier family 45 member 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "AIM-1|OCA4" "oculocutaneous albinism type 4|antigen in melanoma 1" MATP "membrane associated transporter|solute carrier family 45, member 2" Solute carrier family 45 2195 2003-08-12 2005-10-06 2015-12-08 2023-01-20 51151 ENSG00000164175 OTTHUMG00000090719 uc003jid.4 AF172849 NM_016180 "CCDS75232|CCDS3901|CCDS43308" Q9UMX9 "11916009|11574907|22294196" MGI:2153040 RGD:1306690 "Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the Membrane-associated Transport Protein Gene (MATP)|http://www.retina-international.org/files/sci-news/matpmut.htm" 606202 SLC45A2 119665 objectId:1210 HGNC:16472 "ENST00000296589.9|NM_016180.5" HGNC:16472 HGNC:8642 SLC45A3 solute carrier family 45 member 3 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "IPCA-6|prostein|IPCA-2|IPCA-8" "PCANAP6|PCANAP2|PCANAP8" "prostate cancer associated protein 6|prostate cancer associated protein 2|prostate cancer associated protein 8|solute carrier family 45, member 3" Solute carrier family 45 2195 2000-04-13 2005-10-04 2015-12-08 2023-01-20 85414 ENSG00000158715 OTTHUMG00000037223 uc001hda.2 AF109301 NM_033102 CCDS1458 Q96JT2 "10613842|11245466" MGI:1922082 RGD:1309764 SLC45A3 605097 SLC45A3 objectId:1211 HGNC:8642 "ENST00000367145.4|NM_033102.3" -HGNC:29196 SLC45A4 solute carrier family 45 member 4 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA1126 solute carrier family 45, member 4 Solute carrier family 45 2195 2005-10-04 2015-12-08 2023-01-20 57210 ENSG00000022567 OTTHUMG00000164393 uc003ywd.3 AB032952 NM_001286646 "CCDS69550|CCDS34948|CCDS75795" Q5BKX6 25164149 MGI:2146236 RGD:1309971 619581 SLC45A4 objectId:1212 HGNC:29196 "ENST00000517878.6|NM_001286646.2" +HGNC:29196 SLC45A4 solute carrier family 45 member 4 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA1126 solute carrier family 45, member 4 Solute carrier family 45 2195 2005-10-04 2015-12-08 2023-01-20 57210 ENSG00000022567 OTTHUMG00000164393 uc003ywd.3 AB032952 NM_001286646 "CCDS75795|CCDS69550|CCDS34948" Q5BKX6 25164149 MGI:2146236 RGD:1309971 619581 SLC45A4 objectId:1212 HGNC:29196 "ENST00000517878.6|NM_001286646.2" HGNC:56711 SLC45A4-AS1 SLC45A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 Antisense RNAs 1987 2023-01-23 2023-01-23 105375787 ENSG00000254019 NR_161376 -HGNC:30521 SLC46A1 solute carrier family 46 member 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "HCP1|MGC9564|PCFT|HsPCFT|hPCFT" "heme carrier protein 1|proton-coupled folate transporter" "solute carrier family 46, member 1|solute carrier family 46 (folate transporter), member 1" Solute carrier family 46 2196 2007-03-29 2016-02-17 2023-01-20 113235 ENSG00000076351 OTTHUMG00000179415 uc032ezi.2 AK054669 NM_080669 "CCDS74019|CCDS74020" Q96NT5 "16143108|17129779|27664775" MGI:1098733 RGD:1309472 LRG_183|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_183.xml 611672 SLC46A1 139193 objectId:1213 HGNC:30521 "ENST00000612814.5|NM_080669.6" HGNC:30521 +HGNC:30521 SLC46A1 solute carrier family 46 member 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "HCP1|MGC9564|PCFT|HsPCFT|hPCFT" "heme carrier protein 1|proton-coupled folate transporter" "solute carrier family 46, member 1|solute carrier family 46 (folate transporter), member 1" Solute carrier family 46 2196 2007-03-29 2016-02-17 2023-01-20 113235 ENSG00000076351 OTTHUMG00000179415 uc032ezi.2 AK054669 NM_080669 "CCDS74020|CCDS74019" Q96NT5 "16143108|17129779|27664775" MGI:1098733 RGD:1309472 LRG_183|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_183.xml 611672 SLC46A1 139193 objectId:1213 HGNC:30521 "ENST00000612814.5|NM_080669.6" HGNC:30521 HGNC:16055 SLC46A2 solute carrier family 46 member 2 protein-coding gene gene with protein product Approved 9q32 09q32 Ly110 TSCOT "thymic stromal co-transporter|solute carrier family 46, member 2" Solute carrier family 46 2196 2001-07-10 2007-03-29 2015-12-08 2023-01-20 57864 ENSG00000119457 OTTHUMG00000020513 uc004bgk.3 AF242557 NM_033051 CCDS6786 Q9BY10 "10978518|12826694" MGI:1353616 RGD:1310485 608956 SLC46A2 objectId:1214 HGNC:16055 "ENST00000374228.5|NM_033051.4" HGNC:56364 SLC46A2-AS1 SLC46A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q32 09q32 AL139041.1 Antisense RNAs 1987 2022-10-17 2022-10-17 127379751 ENSG00000271631 35964079 HGNC:27501 SLC46A3 solute carrier family 46 member 3 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "DKFZp686A1775|FLJ42613" solute carrier family 46, member 3 Solute carrier family 46 2196 2007-03-29 2015-12-08 2023-01-20 283537 ENSG00000139508 OTTHUMG00000016650 uc001ush.4 NM_181785 "CCDS9332|CCDS45021" Q7Z3Q1 MGI:1918956 RGD:1307594 616764 SLC46A3 objectId:1215 HGNC:27501 "ENST00000266943.11|NM_181785.4" HGNC:25588 SLC47A1 solute carrier family 47 member 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLJ10847|MATE1" multidrug and toxin extrusion 1 solute carrier family 47 (multidrug and toxin extrusion), member 1 "Small nucleolar RNA protein coding host genes|Solute carrier family 47" "1835|2197" 2007-05-03 2016-02-17 2023-01-20 55244 ENSG00000142494 OTTHUMG00000059466 uc002gvy.2 NM_018242 CCDS11209 Q96FL8 "16330770|16996621|16928787" "MGI:1914723|MGI:3588190" RGD:1311123 609832 SLC47A1 objectId:1216 HGNC:25588 "ENST00000270570.8|NM_018242.3" HGNC:51849 SLC47A1P1 SLC47A1 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 solute carrier family 47 (multidrug and toxin extrusion), member 1 pseudogene 1 2015-09-10 2018-05-01 2018-05-01 107075108 ENSG00000228983 OTTHUMG00000130722 NG_046556 PGOHUM00000294309 HGNC:51849 HGNC:53866 SLC47A1P2 SLC47A1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2018-05-01 2018-05-01 112451549 ENSG00000231625 OTTHUMG00000178204 NR_170227 PGOHUM00000294310 -HGNC:26439 SLC47A2 solute carrier family 47 member 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLJ31196|MATE2|MATE2-K" multidrug and toxin extrusion 2 solute carrier family 47 (multidrug and toxin extrusion), member 2 Solute carrier family 47 2197 2007-05-18 2016-02-17 2023-01-20 146802 ENSG00000180638 OTTHUMG00000059464 uc002gwe.5 AB250364 NM_152908 "CCDS11211|CCDS58530|CCDS92273" Q86VL8 "16996621|16807400" "MGI:1914723|MGI:3588190" RGD:1562382 609833 SLC47A2 objectId:1217 HGNC:26439 "ENST00000433844.4|NM_001099646.3" +HGNC:26439 SLC47A2 solute carrier family 47 member 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLJ31196|MATE2|MATE2-K" multidrug and toxin extrusion 2 solute carrier family 47 (multidrug and toxin extrusion), member 2 Solute carrier family 47 2197 2007-05-18 2016-02-17 2023-01-20 146802 ENSG00000180638 OTTHUMG00000059464 uc002gwe.5 AB250364 NM_152908 "CCDS58530|CCDS11211|CCDS92273" Q86VL8 "16996621|16807400" "MGI:1914723|MGI:3588190" RGD:1562382 609833 SLC47A2 objectId:1217 HGNC:26439 "ENST00000433844.4|NM_001099646.3" HGNC:26035 SLC48A1 solute carrier family 48 member 1 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "FLJ20489|hHRG-1|HRG1" solute carrier family 48 (heme transporter), member 1 Solute carrier family 48 2198 2008-10-17 2016-02-17 2023-01-20 55652 ENSG00000211584 OTTHUMG00000156983 uc001rqd.4 NM_017842 CCDS8755 Q6P1K1 18418376 MGI:1914989 RGD:1562880 612187 SLC48A1 objectId:1218 HGNC:26035 "ENST00000442218.3|NM_017842.3" -HGNC:26177 SLC49A3 solute carrier family 49 member 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ22269|LP2561" MFSD7 major facilitator superfamily domain containing 7 Solute carrier family 49 2199 2006-02-14 2017-11-24 2017-11-24 2023-01-20 84179 ENSG00000169026 OTTHUMG00000119001 uc003gax.4 AK025922 NM_032219 "CCDS77883|CCDS3338|CCDS75086|CCDS93459" Q6UXD7 "12975309|23506900" MGI:2442629 RGD:1304688 620318 SLC49A3 objectId:1912 HGNC:26177 "ENST00000322224.9|NM_032219.4" +HGNC:26177 SLC49A3 solute carrier family 49 member 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ22269|LP2561" MFSD7 major facilitator superfamily domain containing 7 Solute carrier family 49 2199 2006-02-14 2017-11-24 2017-11-24 2023-01-20 84179 ENSG00000169026 OTTHUMG00000119001 uc003gax.4 AK025922 NM_032219 "CCDS93459|CCDS75086|CCDS77883|CCDS3338" Q6UXD7 "12975309|23506900" MGI:2442629 RGD:1304688 620318 SLC49A3 objectId:1912 HGNC:26177 "ENST00000322224.9|NM_032219.4" HGNC:16628 SLC49A4 solute carrier family 49 member 4 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "FLJ14784|RCC4" "renal cell carcinoma 4|disrupted in renal cancer protein 2" DIRC2 disrupted in renal carcinoma 2 Solute carrier family 49 2199 2002-03-19 2018-10-18 2018-10-18 2023-01-20 84925 ENSG00000138463 OTTHUMG00000159553 uc003efw.5 AK027690 NM_032839 CCDS3018 Q96SL1 11912179 MGI:2387188 RGD:1310939 602773 SLC49A4 objectId:1913 HGNC:16628 "ENST00000261038.6|NM_032839.3" -HGNC:30657 SLC50A1 solute carrier family 50 member 1 protein-coding gene gene with protein product Approved 1q22 01q22 "SCP|RP11-540D14.5|slv|RZPDo834D038D|HsSWEET1|SWEET1" stromal cell protein RAG1AP1 "recombination activating gene 1 activating protein 1|solute carrier family 50 (sugar efflux transporter), member 1" Solute carrier family 50 2200 2005-10-11 2010-11-30 2016-02-17 2023-01-20 55974 ENSG00000169241 OTTHUMG00000035333 uc001fhj.5 "AF126023|AF126024" NM_018845 "CCDS72929|CCDS72930|CCDS44238|CCDS1093|CCDS44239" Q9BRV3 21107422 MGI:107417 RGD:1308478 613683 SLC50A1 objectId:1914 HGNC:30657 "ENST00000368404.9|NM_018845.4" +HGNC:30657 SLC50A1 solute carrier family 50 member 1 protein-coding gene gene with protein product Approved 1q22 01q22 "SCP|RP11-540D14.5|slv|RZPDo834D038D|HsSWEET1|SWEET1" stromal cell protein RAG1AP1 "recombination activating gene 1 activating protein 1|solute carrier family 50 (sugar efflux transporter), member 1" Solute carrier family 50 2200 2005-10-11 2010-11-30 2016-02-17 2023-01-20 55974 ENSG00000169241 OTTHUMG00000035333 uc001fhj.5 "AF126023|AF126024" NM_018845 "CCDS1093|CCDS44239|CCDS44238|CCDS72930|CCDS72929" Q9BRV3 21107422 MGI:107417 RGD:1308478 613683 SLC50A1 objectId:1914 HGNC:30657 "ENST00000368404.9|NM_018845.4" HGNC:29955 SLC51A solute carrier family 51 subunit alpha protein-coding gene gene with protein product Approved 3q29 03q29 OSTalpha organic solute transporter, alpha subunit Solute carrier family 51 subunits 2201 2012-08-03 2019-11-26 2023-01-20 200931 ENSG00000163959 OTTHUMG00000155684 uc003fwd.4 NM_152672 CCDS3314 Q86UW1 "12719432|20538072" MGI:2146634 RGD:1311100 612084 SLC51A objectId:1915 HGNC:29955 "ENST00000296327.10|NM_152672.6" HGNC:29956 SLC51B solute carrier family 51 subunit beta protein-coding gene gene with protein product Approved 15q22.31 15q22.31 OSTbeta organic solute transporter beta subunit Solute carrier family 51 subunits 2201 2012-08-03 2019-11-26 2023-01-20 123264 ENSG00000186198 OTTHUMG00000133116 uc002aog.3 NM_178859 CCDS10199 Q86UW2 "12719432|20538072" MGI:3582052 RGD:1565748 612085 SLC51B objectId:1916 HGNC:29956 "ENST00000334287.3|NM_178859.4" HGNC:30225 SLC52A1 solute carrier family 52 member 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FLJ10060|GPCR42|PAR2|hRFT1|RFVT1" riboflavin transporter 1 GPR172B "G protein-coupled receptor 172B|solute carrier family 52 (riboflavin transporter), member 1" Solute carrier family 52 2202 2004-07-19 2012-02-29 2016-02-17 2023-01-20 55065 ENSG00000132517 OTTHUMG00000099448 uc002gap.5 AY070775 NM_017986 CCDS11066 Q9NWF4 "12740431|18632736" MGI:1289288 607883 SLC52A1 321640 objectId:2571 HGNC:30225 "ENST00000254853.10|NM_017986.4" HGNC:30225 HGNC:30224 SLC52A2 solute carrier family 52 member 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FLJ11856|PAR1|GPCR41|D15Ertd747e|RFVT2|hRFT3|RFT3|HuPAR-1" "G-protein coupled receptor 41|human porcine endogenous retrovirus subgroup A receptor 1" GPR172A "G protein-coupled receptor 172A|solute carrier family 52 (riboflavin transporter), member 2" Solute carrier family 52 2202 2004-07-19 2012-02-29 2016-02-17 2023-01-20 79581 ENSG00000185803 OTTHUMG00000165168 uc003zcc.4 AY070774 NM_024531 "CCDS6423|CCDS94365|CCDS94364" Q9HAB3 "12740431|22864630" MGI:1289288 RGD:1560410 607882 SLC52A2 304678 objectId:2572 HGNC:30224 "ENST00000643944.2|NM_001363118.2" HGNC:30224 HGNC:16187 SLC52A3 solute carrier family 52 member 3 protein-coding gene gene with protein product Approved 20p13 20p13 "bA371L19.1|hRFT2|RFVT3|RFT2" hypothetical protein LOC113278 C20orf54 "chromosome 20 open reading frame 54|solute carrier family 52 (riboflavin transporter), member 3" Solute carrier family 52 2202 2001-07-17 2012-02-29 2016-02-17 2023-01-20 113278 ENSG00000101276 OTTHUMG00000031647 uc284pqm.1 AL118502 NM_033409 CCDS13007 Q9NQ40 "33325104|19122205" MGI:1916948 RGD:1304644 LRG_1394|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1394.xml 613350 SLC52A3 227053 objectId:2573 HGNC:16187 "ENST00000645534.1|NM_033409.4" HGNC:16187 -HGNC:26001 SLC66A1 solute carrier family 66 member 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "FLJ20320|LAAT-1|LAAT1" lysosomal amino acid transporter 1 homolog PQLC2 PQ loop repeat containing 2 Solute carrier family 66 2215 2004-01-14 2019-05-14 2019-05-14 2023-03-14 54896 ENSG00000040487 OTTHUMG00000002521 uc001bby.4 BC015324 NM_017765 "CCDS30618|CCDS195" Q6ZP29 23169667 MGI:2384837 RGD:1311627 614760 objectId:3160 HGNC:26001 "ENST00000375153.8|NM_001040125.2" +HGNC:26001 SLC66A1 solute carrier family 66 member 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "FLJ20320|LAAT-1|LAAT1" lysosomal amino acid transporter 1 homolog PQLC2 PQ loop repeat containing 2 Solute carrier family 66 2215 2004-01-14 2019-05-14 2019-05-14 2023-03-14 54896 ENSG00000040487 OTTHUMG00000002521 uc001bby.4 BC015324 NM_017765 "CCDS195|CCDS30618" Q6ZP29 23169667 MGI:2384837 RGD:1311627 614760 objectId:3160 HGNC:26001 "ENST00000375153.8|NM_001040125.2" HGNC:25146 SLC66A1L solute carrier family 66 member 1 like pseudogene pseudogene Approved 3q25.32 03q25.32 "C3orf55|PQLC2L" "chromosome 3 open reading frame 55|PQ loop repeat containing 2 like" Solute carrier family 66 2215 2006-02-01 2019-05-14 2019-05-14 2023-03-15 152078 ENSG00000174899 OTTHUMG00000158748 BC029129 NR_024016 A1A4F0 22363504 HGNC:25146 -HGNC:26188 SLC66A2 solute carrier family 66 member 2 protein-coding gene gene with protein product Approved 18q23 18q23 FLJ22378 PQLC1 PQ loop repeat containing 1 Solute carrier family 66 2215 2004-01-14 2019-05-14 2019-05-14 2023-03-14 80148 ENSG00000122490 OTTHUMG00000132921 uc002lnl.3 AK123870 NM_025078 "CCDS54193|CCDS54192|CCDS12020" Q8N2U9 12477932 MGI:1914193 RGD:1305223 objectId:3161 HGNC:26188 "ENST00000397778.7|NM_025078.5" +HGNC:26188 SLC66A2 solute carrier family 66 member 2 protein-coding gene gene with protein product Approved 18q23 18q23 FLJ22378 PQLC1 PQ loop repeat containing 1 Solute carrier family 66 2215 2004-01-14 2019-05-14 2019-05-14 2023-03-14 80148 ENSG00000122490 OTTHUMG00000132921 uc002lnl.3 AK123870 NM_025078 "CCDS54193|CCDS12020|CCDS54192" Q8N2U9 12477932 MGI:1914193 RGD:1305223 objectId:3161 HGNC:26188 "ENST00000397778.7|NM_025078.5" HGNC:43986 SLC66A2P1 SLC66A2 pseudogene 1 pseudogene pseudogene Approved 7q21.13 07q21.13 PQLC1P1 PQ loop repeat containing 1 pseudogene 1 2012-05-23 2021-03-24 2021-03-24 2021-03-24 106479032 ENSG00000231763 OTTHUMG00000154430 NG_044359 PGOHUM00000232913 HGNC:43986 HGNC:43987 SLC66A2P2 SLC66A2 pseudogene 2 pseudogene pseudogene Approved 4q21.22 04q21.22 PQLC1P2 PQ loop repeat containing 1 pseudogene 2 2012-05-23 2021-03-24 2021-03-24 2021-03-24 100127906 NG_011784 PGOHUM00000245983 HGNC:43987 HGNC:28503 SLC66A3 solute carrier family 66 member 3 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 MGC33602 "C2orf22|PQLC3" "chromosome 2 open reading frame 22|PQ loop repeat containing 3" Solute carrier family 66 2215 2004-02-05 2019-05-14 2019-05-14 2023-01-20 130814 ENSG00000162976 OTTHUMG00000119055 uc002rbc.5 BC027625 NM_152391 "CCDS1679|CCDS62856|CCDS62857" Q8N755 12477932 MGI:2444067 RGD:1306818 objectId:3162 HGNC:28503 "ENST00000295083.8|NM_152391.5" -HGNC:10956 SLCO1A2 solute carrier organic anion transporter family member 1A2 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "OATP|OATP1A2|OATP-A" SLC21A3 "solute carrier family 21 (organic anion transporter), member 3|solute carrier organic anion transporter family, member 1A2" Solute carrier organic anion transporter family 2216 1997-12-05 2003-11-26 2015-11-18 2023-03-15 6579 ENSG00000084453 OTTHUMG00000156259 uc001res.3 NM_021094 "CCDS8686|CCDS91662" P46721 9007731 "MGI:3647159|MGI:1351896|MGI:1351906|MGI:1351891|MGI:1351865|MGI:3643685" RGD:621389 602883 SLCO1A2 objectId:1219 HGNC:10956 "ENST00000683939.1|NM_001386879.1" +HGNC:10956 SLCO1A2 solute carrier organic anion transporter family member 1A2 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "OATP|OATP1A2|OATP-A" SLC21A3 "solute carrier family 21 (organic anion transporter), member 3|solute carrier organic anion transporter family, member 1A2" Solute carrier organic anion transporter family 2216 1997-12-05 2003-11-26 2015-11-18 2023-03-15 6579 ENSG00000084453 OTTHUMG00000156259 uc001res.3 NM_021094 "CCDS91662|CCDS8686" P46721 9007731 "MGI:3647159|MGI:1351896|MGI:1351906|MGI:1351891|MGI:1351865|MGI:3643685" RGD:621389 602883 SLCO1A2 objectId:1219 HGNC:10956 "ENST00000683939.1|NM_001386879.1" HGNC:10959 SLCO1B1 solute carrier organic anion transporter family member 1B1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "OATP-C|LST-1|OATP1B1" SLC21A6 "solute carrier family 21 (organic anion transporter), member 6|solute carrier organic anion transporter family, member 1B1" Solute carrier organic anion transporter family 2216 1999-11-26 2003-11-26 2015-11-18 2023-01-20 10599 ENSG00000134538 OTTHUMG00000169047 uc001req.5 NM_006446 CCDS8685 Q9Y6L6 10358072 MGI:1351899 LRG_1022|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1022.xml 604843 SLCO1B1 241999 objectId:1220 HGNC:10959 "ENST00000256958.3|NM_006446.5" HGNC:10959 HGNC:10961 SLCO1B3 solute carrier organic anion transporter family member 1B3 protein-coding gene gene with protein product Approved 12p12.2 12p12.2 "OATP8|OATP1B3" SLC21A8 "solute carrier family 21 (organic anion transporter), member 8|solute carrier organic anion transporter family, member 1B3" Solute carrier organic anion transporter family 2216 2000-02-02 2003-11-26 2015-11-18 2023-01-20 28234 ENSG00000111700 OTTHUMG00000169011 uc001rel.5 NM_019844 CCDS8684 Q9NPD5 MGI:1351899 RGD:69300 605495 SLCO1B3 292437 objectId:1221 HGNC:10961 "ENST00000381545.8|NM_019844.4" HGNC:10961 HGNC:54403 SLCO1B3-SLCO1B7 SLCO1B3-SLCO1B7 readthrough other readthrough Approved 12p12.2 12p12.2 "OATP1B3-1B7|LST-3TM12" 2019-06-28 2019-06-28 115072896 ENSG00000257046 AY257471 NM_001371097 F5H094 "29248594|31127008" HGNC:54403 HGNC:32934 SLCO1B7 solute carrier organic anion transporter family member 1B7 (putative) protein-coding gene gene with protein product Approved 12p12.2 12p12.2 "LST3|SLC21A21" "solute carrier organic anion transporter family, member 1B7 (non-functional)|solute carrier organic anion transporter family member 1B7 (non-functional)" Solute carrier organic anion transporter family 2216 2011-07-12 2016-01-29 2023-03-15 338821 ENSG00000205754 OTTHUMG00000169045 uc010sin.2 AF401642 NM_001009562 G3V0H7 MGI:1351899 619875 SLCO1B7 HGNC:32934 HGNC:32934 -HGNC:13819 SLCO1C1 solute carrier organic anion transporter family member 1C1 protein-coding gene gene with protein product Approved 12p12.2 12p12.2 "OATP-F|OATP1C1|OATP1" SLC21A14 "solute carrier family 21 (organic anion transporter), member 14|solute carrier organic anion transporter family, member 1C1" Solute carrier organic anion transporter family 2216 2000-11-09 2003-11-26 2015-11-18 2023-01-20 53919 ENSG00000139155 OTTHUMG00000168966 uc001rei.3 AF260704 NM_017435 "CCDS53757|CCDS53758|CCDS8683|CCDS53759" Q9NYB5 MGI:1889679 RGD:628660 613389 SLCO1C1 objectId:1222 HGNC:13819 "ENST00000266509.7|NM_017435.5" HGNC:13819 +HGNC:13819 SLCO1C1 solute carrier organic anion transporter family member 1C1 protein-coding gene gene with protein product Approved 12p12.2 12p12.2 "OATP-F|OATP1C1|OATP1" SLC21A14 "solute carrier family 21 (organic anion transporter), member 14|solute carrier organic anion transporter family, member 1C1" Solute carrier organic anion transporter family 2216 2000-11-09 2003-11-26 2015-11-18 2023-01-20 53919 ENSG00000139155 OTTHUMG00000168966 uc001rei.3 AF260704 NM_017435 "CCDS53758|CCDS53759|CCDS8683|CCDS53757" Q9NYB5 MGI:1889679 RGD:628660 613389 SLCO1C1 objectId:1222 HGNC:13819 "ENST00000266509.7|NM_017435.5" HGNC:13819 HGNC:10955 SLCO2A1 solute carrier organic anion transporter family member 2A1 protein-coding gene gene with protein product Approved 3q22.1-q22.2 03q22.1-q22.2 "PGT|OATP2A1" prostaglandin transporter "SLC21A2|MATR1" "solute carrier family 21 (prostaglandin transporter), member 2|matrin F/G 1|solute carrier organic anion transporter family, member 2A1" Solute carrier organic anion transporter family 2216 1996-11-15 2003-11-26 2015-11-18 2023-01-20 6578 ENSG00000174640 OTTHUMG00000159745 uc003eqa.4 NM_005630 CCDS3084 Q92959 "8787677|9618293|22197487" MGI:1346021 RGD:3051 LRG_841|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_841.xml 601460 SLCO2A1 291830 objectId:1223 HGNC:10955 "ENST00000310926.11|NM_005630.3" HGNC:10955 -HGNC:10962 SLCO2B1 solute carrier organic anion transporter family member 2B1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "OATP-B|OATP2B1" SLC21A9 "solute carrier family 21 (organic anion transporter), member 9|solute carrier organic anion transporter family, member 2B1" Solute carrier organic anion transporter family 2216 2000-02-01 2003-11-26 2015-11-18 2023-05-04 11309 ENSG00000137491 OTTHUMG00000165420 uc001owb.4 AB026256 NM_007256 "CCDS44683|CCDS53679|CCDS8235" O94956 35714613 MGI:1351872 RGD:621391 604988 SLCO2B1 objectId:1224 HGNC:10962 "ENST00000289575.10|NM_007256.5" +HGNC:10962 SLCO2B1 solute carrier organic anion transporter family member 2B1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "OATP-B|OATP2B1" SLC21A9 "solute carrier family 21 (organic anion transporter), member 9|solute carrier organic anion transporter family, member 2B1" Solute carrier organic anion transporter family 2216 2000-02-01 2003-11-26 2015-11-18 2023-05-04 11309 ENSG00000137491 OTTHUMG00000165420 uc001owb.4 AB026256 NM_007256 "CCDS53679|CCDS44683|CCDS8235" O94956 35714613 MGI:1351872 RGD:621391 604988 SLCO2B1 objectId:1224 HGNC:10962 "ENST00000289575.10|NM_007256.5" HGNC:10952 SLCO3A1 solute carrier organic anion transporter family member 3A1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "OATP-D|OATP3A1" SLC21A11 "solute carrier family 21 (organic anion transporter), member 11|solute carrier organic anion transporter family, member 3A1" Solute carrier organic anion transporter family 2216 2000-02-01 2003-11-26 2015-11-18 2023-01-20 28232 ENSG00000176463 OTTHUMG00000149846 uc002bqx.3 AB031050 NM_013272 "CCDS45354|CCDS10371" Q9UIG8 MGI:1351867 RGD:620227 612435 SLCO3A1 objectId:1225 HGNC:10952 "ENST00000318445.11|NM_013272.4" HGNC:10953 SLCO4A1 solute carrier organic anion transporter family member 4A1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "OATP-E|OATP4A1" SLC21A12 "solute carrier family 21 (organic anion transporter), member 12|solute carrier organic anion transporter family, member 4A1" Solute carrier organic anion transporter family 2216 2000-02-01 2003-11-26 2015-11-18 2023-01-20 28231 ENSG00000101187 OTTHUMG00000032923 uc002ydb.1 AB031051 NM_016354 CCDS13501 Q96BD0 10873595 MGI:1351866 RGD:620228 612436 SLCO4A1 I01.972 objectId:1226 HGNC:10953 "ENST00000217159.6|NM_016354.4" HGNC:40537 SLCO4A1-AS1 SLCO4A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2014-06-13 2019-07-17 100127888 ENSG00000232803 OTTHUMG00000032925 NR_024470 31308265 SLCO4A1-AS1 HGNC:40537 HGNC:56052 SLCO4A1-AS2 SLCO4A1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2021-12-09 2021-12-09 101928465 ENSG00000277496 NR_183964 HGNC:23612 SLCO4C1 solute carrier organic anion transporter family member 4C1 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "SLC21A20|OATP4C1|OATPX|OATP-H" solute carrier organic anion transporter family, member 4C1 Solute carrier organic anion transporter family 2216 2003-11-25 2015-11-18 2023-01-20 353189 ENSG00000173930 OTTHUMG00000162757 uc003knm.4 AY273896 NM_180991 CCDS34205 Q6ZQN7 MGI:2442784 RGD:1303048 609013 SLCO4C1 objectId:1227 HGNC:23612 "ENST00000310954.7|NM_180991.5" -HGNC:19046 SLCO5A1 solute carrier organic anion transporter family member 5A1 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "OATPRP4|OATP-J|OATP5A1" SLC21A15 "solute carrier family 21 (organic anion transporter), member 15|solute carrier organic anion transporter family, member 5A1" Solute carrier organic anion transporter family 2216 2003-03-31 2003-11-26 2015-11-18 2023-01-20 81796 ENSG00000137571 OTTHUMG00000165121 uc003xyl.4 AF205075 NM_030958 "CCDS55243|CCDS55242|CCDS6205" Q9H2Y9 12507753 MGI:2443431 RGD:1307132 613543 SLCO5A1 I01.972 objectId:1228 HGNC:19046 "ENST00000260126.9|NM_030958.3" +HGNC:19046 SLCO5A1 solute carrier organic anion transporter family member 5A1 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "OATPRP4|OATP-J|OATP5A1" SLC21A15 "solute carrier family 21 (organic anion transporter), member 15|solute carrier organic anion transporter family, member 5A1" Solute carrier organic anion transporter family 2216 2003-03-31 2003-11-26 2015-11-18 2023-01-20 81796 ENSG00000137571 OTTHUMG00000165121 uc003xyl.4 AF205075 NM_030958 "CCDS55242|CCDS55243|CCDS6205" Q9H2Y9 12507753 MGI:2443431 RGD:1307132 613543 SLCO5A1 I01.972 objectId:1228 HGNC:19046 "ENST00000260126.9|NM_030958.3" HGNC:55595 SLCO5A1-AS1 SLCO5A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q13.3 08q13.3 Antisense RNAs 1987 2021-04-29 2021-04-29 2021-04-29 2022-04-25 121233925 ENSG00000246528 XR_007060957 -HGNC:23613 SLCO6A1 solute carrier organic anion transporter family member 6A1 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "OATP6A1|OATPY|MGC26949|CT48" cancer/testis antigen 48 solute carrier organic anion transporter family, member 6A1 Solute carrier organic anion transporter family 2216 2003-11-25 2015-11-18 2023-01-20 133482 ENSG00000205359 OTTHUMG00000162759 uc003knp.4 AF505657 NM_173488 "CCDS75282|CCDS78042|CCDS34206" Q86UG4 "MGI:1921691|MGI:1918116" RGD:620278 613365 SLCO6A1 objectId:1229 HGNC:23613 "ENST00000506729.6|NM_173488.5" +HGNC:23613 SLCO6A1 solute carrier organic anion transporter family member 6A1 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "OATP6A1|OATPY|MGC26949|CT48" cancer/testis antigen 48 solute carrier organic anion transporter family, member 6A1 Solute carrier organic anion transporter family 2216 2003-11-25 2015-11-18 2023-01-20 133482 ENSG00000205359 OTTHUMG00000162759 uc003knp.4 AF505657 NM_173488 "CCDS78042|CCDS34206|CCDS75282" Q86UG4 "MGI:1921691|MGI:1918116" RGD:620278 613365 SLCO6A1 objectId:1229 HGNC:23613 "ENST00000506729.6|NM_173488.5" HGNC:25408 SLF1 SMC5-SMC6 complex localization factor 1 protein-coding gene gene with protein product Approved 5q15 05q15 "DKFZp761C121|DKFZp564C0469|BRCTx" "BRCTD1|ANKRD32" "BRCT domain containing 1|ankyrin repeat domain 32" Ankyrin repeat domain containing 403 2004-06-04 2015-07-10 2015-07-10 2023-01-20 84250 ENSG00000133302 OTTHUMG00000121133 AL136560 NM_032290 CCDS4071 Q9BQI6 "15632077|25931565" MGI:2145448 RGD:1304857 618467 HGNC:25408 "ENST00000265140.10|NM_032290.4" HGNC:17814 SLF2 SMC5-SMC6 complex localization factor 2 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FLJ10512|FLJ25012" "C10orf6|FAM178A" "chromosome 10 open reading frame 6|family with sequence similarity 178, member A" 2003-02-04 2015-07-10 2015-07-10 2023-01-20 55719 ENSG00000119906 OTTHUMG00000018919 AF460991 NM_001136123 Q8IX21 "12459258|25931565" MGI:1924968 RGD:1560300 610348 HGNC:17814 "ENST00000238961.9|NM_018121.4" -HGNC:28286 SLFN5 schlafen family member 5 protein-coding gene gene with protein product Approved 17q12 17q12 MGC19764 Schlafen family 1110 2006-04-05 2023-01-20 162394 ENSG00000166750 OTTHUMG00000179858 uc002hjf.5 BX647942 NM_144975 "CCDS82106|CCDS32619" Q08AF3 9846487 MGI:1329004 RGD:1312025 614952 HGNC:28286 "ENST00000299977.9|NM_144975.4" +HGNC:28286 SLFN5 schlafen family member 5 protein-coding gene gene with protein product Approved 17q12 17q12 MGC19764 Schlafen family 1110 2006-04-05 2023-01-20 162394 ENSG00000166750 OTTHUMG00000179858 uc002hjf.5 BX647942 NM_144975 "CCDS32619|CCDS82106" Q08AF3 9846487 MGI:1329004 RGD:1312025 614952 HGNC:28286 "ENST00000299977.9|NM_144975.4" HGNC:26633 SLFN11 schlafen family member 11 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ34922 Schlafen family 1110 2006-04-05 2023-01-20 91607 ENSG00000172716 OTTHUMG00000132948 uc002hjh.5 AK074184 NM_152270 CCDS11294 Q7Z7L1 23570387 "MGI:2445121|MGI:2672859" RGD:1359139 614953 HGNC:26633 "ENST00000685675.1|NM_001376007.1" HGNC:25500 SLFN12 schlafen family member 12 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ10260 Schlafen family 1110 2006-04-05 2023-01-20 55106 ENSG00000172123 OTTHUMG00000132952 uc010cts.5 AK001122 NM_018042 CCDS11295 Q8IYM2 "30045019|31026779" "MGI:1313258|MGI:1313259|MGI:1329005|MGI:1329010" RGD:620455 614955 HGNC:25500 "ENST00000304905.10|NM_018042.5" HGNC:33920 SLFN12L schlafen family member 12 like protein-coding gene gene with protein product Approved 17q12 17q12 schlafen family member 12-like Schlafen family 1110 2007-12-18 2016-04-04 2023-01-20 100506736 ENSG00000205045 OTTHUMG00000167707 uc021tuy.2 AK172761 NM_001195790 "CCDS56026|CCDS86591" Q6IEE8 9846487 "MGI:1313258|MGI:1313259|MGI:1329005|MGI:1329010" RGD:1308645 614956 HGNC:33920 "ENST00000628453.4|NM_001363830.2" HGNC:26481 SLFN13 schlafen family member 13 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ31952 Schlafen family 1110 2006-04-05 2023-01-20 146857 ENSG00000154760 OTTHUMG00000165108 uc002hjl.2 AL832726 NM_144682 CCDS32620 Q68D06 "9846487|29563550" "MGI:2445121|MGI:2672859" 614957 HGNC:26481 "ENST00000285013.11|NM_144682.6" HGNC:32689 SLFN14 schlafen family member 14 protein-coding gene gene with protein product Approved 17q12 17q12 Schlafen family 1110 2006-04-05 2023-01-20 342618 ENSG00000236320 OTTHUMG00000179912 uc010ctu.2 NM_001129820 CCDS45650 P0C7P3 "9846487|29678925" MGI:2684866 RGD:1561538 LRG_1114|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1114.xml 614958 471110 HGNC:32689 "ENST00000674182.1|NM_001129820.2" HGNC:32689 -HGNC:26313 SLFNL1 schlafen like 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ23878 schlafen-like 1 Schlafen family 1110 2006-04-05 2015-11-11 2023-01-20 200172 ENSG00000171790 OTTHUMG00000005719 uc057fhm.1 BC022037 NM_144990 "CCDS72766|CCDS460|CCDS90925" Q499Z3 MGI:3045330 RGD:1564075 HGNC:26313 "ENST00000302946.13|NM_144990.4" +HGNC:26313 SLFNL1 schlafen like 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ23878 schlafen-like 1 Schlafen family 1110 2006-04-05 2015-11-11 2023-01-20 200172 ENSG00000171790 OTTHUMG00000005719 uc057fhm.1 BC022037 NM_144990 "CCDS90925|CCDS72766|CCDS460" Q499Z3 MGI:3045330 RGD:1564075 HGNC:26313 "ENST00000302946.13|NM_144990.4" HGNC:44126 SLFNL1-AS1 SLFNL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 SLFNL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507178 ENSG00000281207 OTTHUMG00000189531 uc021omd.1 AL157461 NR_037868 SLFNL1-AS1 HGNC:44126 -HGNC:20495 SLIRP SRA stem-loop interacting RNA binding protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 DC50 C14orf156 chromosome 14 open reading frame 156 RNA binding motif containing 725 2004-06-11 2011-06-17 2011-06-17 2023-01-20 81892 ENSG00000119705 OTTHUMG00000171526 uc001xue.7 AF253980 NM_031210 "CCDS58331|CCDS9866|CCDS73668" Q9GZT3 16762838 MGI:1916394 RGD:1585290 610211 HGNC:20495 "ENST00000557342.6|NM_031210.6" +HGNC:20495 SLIRP SRA stem-loop interacting RNA binding protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 DC50 C14orf156 chromosome 14 open reading frame 156 RNA binding motif containing 725 2004-06-11 2011-06-17 2011-06-17 2023-01-20 81892 ENSG00000119705 OTTHUMG00000171526 uc001xue.7 AF253980 NM_031210 "CCDS73668|CCDS58331|CCDS9866" Q9GZT3 16762838 MGI:1916394 RGD:1585290 610211 HGNC:20495 "ENST00000557342.6|NM_031210.6" HGNC:55149 SLIRPP1 SLIRP. pseudogene 1 pseudogene pseudogene Approved Xq27.3 Xq27.3 2020-07-15 2020-07-15 100287757 ENSG00000227505 NG_030164 HGNC:55150 SLIRPP2 SLIRP. pseudogene 2 pseudogene pseudogene Approved 4p15.2 04p15.2 2020-07-15 2020-07-15 100913179 ENSG00000249277 NG_032809 HGNC:11085 SLIT1 slit guidance ligand 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "MEGF4|Slit-1|SLIT3" SLIL1 "slit (Drosophila) homolog 1|slit homolog 1 (Drosophila)" 1998-03-25 2015-06-26 2023-01-20 6585 ENSG00000187122 OTTHUMG00000018843 uc001kmw.3 AB011537 NM_003061 CCDS7453 O75093 "9693030|9813312" MGI:1315203 RGD:69307 603742 HGNC:11085 "ENST00000266058.9|NM_003061.3" HGNC:51198 SLIT1-AS1 SLIT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.1 10q24.1 Antisense RNAs 1987 2014-08-01 2014-08-01 100505540 ENSG00000234855 OTTHUMG00000018842 NR_038330 SLIT1-AS1 HGNC:51198 -HGNC:11086 SLIT2 slit guidance ligand 2 protein-coding gene gene with protein product Approved 4p15.31 04p15.31 Slit-2 SLIL3 "slit (Drosophila) homolog 2|slit homolog 2 (Drosophila)" MicroRNA protein coding host genes 1691 1999-06-11 2015-06-26 2023-01-20 9353 ENSG00000145147 OTTHUMG00000128551 uc003gpr.3 AF055585 NM_001289135 "CCDS75111|CCDS3426|CCDS75110" O94813 "9813312|18269211" MGI:1315205 RGD:69310 603746 HGNC:11086 "ENST00000504154.6|NM_004787.4" +HGNC:11086 SLIT2 slit guidance ligand 2 protein-coding gene gene with protein product Approved 4p15.31 04p15.31 Slit-2 SLIL3 "slit (Drosophila) homolog 2|slit homolog 2 (Drosophila)" MicroRNA protein coding host genes 1691 1999-06-11 2015-06-26 2023-01-20 9353 ENSG00000145147 OTTHUMG00000128551 uc003gpr.3 AF055585 NM_001289135 "CCDS3426|CCDS75110|CCDS75111" O94813 "9813312|18269211" MGI:1315205 RGD:69310 603746 HGNC:11086 "ENST00000504154.6|NM_004787.4" HGNC:41383 SLIT2-IT1 SLIT2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 4p15.31 04p15.31 SLIT2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-08-23 2015-02-25 2015-02-25 100505893 ENSG00000248228 OTTHUMG00000160239 uc003gpt.3 NR_037876 SLIT2-IT1 HGNC:41383 -HGNC:11087 SLIT3 slit guidance ligand 3 protein-coding gene gene with protein product Approved 5q34-q35.1 05q34-q35.1 "slit2|MEGF5|SLIT1|Slit-3" SLIL2 "slit (Drosophila) homolog 3|slit homolog 3 (Drosophila)" MicroRNA protein coding host genes 1691 1998-03-25 2015-06-26 2023-01-20 6586 ENSG00000184347 OTTHUMG00000130409 uc003mab.5 AB011538 NM_003062 "CCDS64311|CCDS4369" O75094 "9693030|9813312" MGI:1315202 RGD:69311 603745 HGNC:11087 "ENST00000519560.6|NM_003062.4" +HGNC:11087 SLIT3 slit guidance ligand 3 protein-coding gene gene with protein product Approved 5q34-q35.1 05q34-q35.1 "slit2|MEGF5|SLIT1|Slit-3" SLIL2 "slit (Drosophila) homolog 3|slit homolog 3 (Drosophila)" MicroRNA protein coding host genes 1691 1998-03-25 2015-06-26 2023-01-20 6586 ENSG00000184347 OTTHUMG00000130409 uc003mab.5 AB011538 NM_003062 "CCDS4369|CCDS64311" O75094 "9693030|9813312" MGI:1315202 RGD:69311 603745 HGNC:11087 "ENST00000519560.6|NM_003062.4" HGNC:40553 SLIT3-AS1 SLIT3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.1 05q35.1 Antisense RNAs 1987 2020-03-27 2020-03-27 728095 ENSG00000248222 OTTHUMG00000163054 NR_109897 HGNC:40551 SLIT3-AS2 SLIT3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Antisense RNAs 1987 2020-03-27 2020-03-27 101927969 ENSG00000254042 OTTHUMG00000163055 NR_130737 HGNC:20297 SLITRK1 SLIT and NTRK like family member 1 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 KIAA1910 LRRC12 "leucine rich repeat containing 12|SLIT and NTRK-like family, member 1" SLIT and NTRK like family 1828 2004-01-08 2015-11-18 2023-01-20 114798 ENSG00000178235 OTTHUMG00000017149 uc001vlk.4 AB067497 NM_052910 CCDS9464 Q96PX8 "14557068|12975309" MGI:2679446 RGD:1308858 609678 119716 HGNC:20297 "ENST00000674365.1|NM_001281503.2" HGNC:20297 @@ -35939,54 +35942,54 @@ HGNC:23501 SLITRK3 SLIT and NTRK like family member 3 protein-coding gene gene w HGNC:23502 SLITRK4 SLIT and NTRK like family member 4 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 DKFZp547M2010 SLIT and NTRK-like family, member 4 SLIT and NTRK like family 1828 2004-01-08 2015-11-18 2023-01-20 139065 ENSG00000179542 OTTHUMG00000022580 uc022cfm.2 BC040986 NM_173078 CCDS14679 Q8IW52 14557068 MGI:2442509 RGD:1588563 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLITRK4 300562 HGNC:23502 "ENST00000356928.2|NM_001184749.3" HGNC:20295 SLITRK5 SLIT and NTRK like family member 5 protein-coding gene gene with protein product Approved 13q31.2 13q31.2 "bA364G4.2|KIAA0918" LRRC11 "leucine rich repeat containing 11|SLIT and NTRK-like family, member 5" SLIT and NTRK like family 1828 2004-04-16 2015-11-18 2023-01-20 26050 ENSG00000165300 OTTHUMG00000017167 uc001vln.4 AB020725 NM_001384609 CCDS9465 O94991 "10048485|14557068" MGI:2679448 RGD:1310957 609680 HGNC:20295 "ENST00000683689.1|NM_001384609.1" HGNC:23503 SLITRK6 SLIT and NTRK like family member 6 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 FLJ22774 SLIT and NTRK-like family, member 6 SLIT and NTRK like family 1828 2004-01-08 2015-11-18 2023-01-20 84189 ENSG00000184564 OTTHUMG00000017157 uc001vll.2 AK026427 NM_032229 CCDS41903 Q9H5Y7 14557068 MGI:2443198 RGD:1306550 LRG_1357|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1357.xml 609681 353699 HGNC:23503 "ENST00000647374.2|NM_032229.3" HGNC:23503 -HGNC:11088 SLK STE20 like kinase protein-coding gene gene with protein product Approved 10q24.33-q25.1 10q24.33-q25.1 "STK2|se20-9|KIAA0204" "SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)|STE20-like kinase (yeast)|STE20-like kinase" 1992-04-16 2015-12-04 2023-01-20 9748 ENSG00000065613 OTTHUMG00000018999 uc001kxo.2 NM_014720 "CCDS7553|CCDS76334" Q9H2G2 3526554 MGI:103241 RGD:3780 616563 objectId:2200 HGNC:11088 "ENST00000369755.4|NM_014720.4" -HGNC:16643 SLMAP sarcolemma associated protein protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "SLAP|KIAA1601" Sarcolemmal-associated protein STRIPAK complex 1371 2001-12-03 2023-03-15 7871 ENSG00000163681 OTTHUMG00000133764 uc062kya.1 AF100750 NM_007159 "CCDS93301|CCDS93295|CCDS77758|CCDS93298|CCDS93299|CCDS93297|CCDS77757|CCDS33774|CCDS93300|CCDS93296" Q14BN4 "9405447|11042152" MGI:1933549 RGD:1307674 602701 408692 HGNC:16643 "ENST00000671191.1|NM_001377540.1" HGNC:16643 +HGNC:11088 SLK STE20 like kinase protein-coding gene gene with protein product Approved 10q24.33-q25.1 10q24.33-q25.1 "STK2|se20-9|KIAA0204" "SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)|STE20-like kinase (yeast)|STE20-like kinase" 1992-04-16 2015-12-04 2023-01-20 9748 ENSG00000065613 OTTHUMG00000018999 uc001kxo.2 NM_014720 "CCDS76334|CCDS7553" Q9H2G2 3526554 MGI:103241 RGD:3780 616563 objectId:2200 HGNC:11088 "ENST00000369755.4|NM_014720.4" +HGNC:16643 SLMAP sarcolemma associated protein protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "SLAP|KIAA1601" Sarcolemmal-associated protein STRIPAK complex 1371 2001-12-03 2023-03-15 7871 ENSG00000163681 OTTHUMG00000133764 uc062kya.1 AF100750 NM_007159 "CCDS93301|CCDS77757|CCDS33774|CCDS93298|CCDS93297|CCDS93296|CCDS77758|CCDS93299|CCDS93300|CCDS93295" Q14BN4 "9405447|11042152" MGI:1933549 RGD:1307674 602701 408692 HGNC:16643 "ENST00000671191.1|NM_001377540.1" HGNC:16643 HGNC:11089 SLN sarcolipin protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "MGC12301|MGC125854|MGC125855" 1997-07-22 2023-01-20 6588 ENSG00000170290 OTTHUMG00000166364 uc058hag.1 U96094 NM_003063 CCDS31667 O00631 9367679 MGI:1913652 RGD:1305224 602203 HGNC:11089 "ENST00000305991.3|NM_003063.3" HGNC:11092 SLPI secretory leukocyte peptidase inhibitor protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "HUSI-I|ALK1|ALP|BLPI|HUSI|WAP4|WFDC4" antileukoproteinase secretory leukocyte protease inhibitor (antileukoproteinase) WAP four-disulfide core domain containing 361 1998-04-24 2005-08-17 2023-01-20 6590 ENSG00000124107 OTTHUMG00000033075 uc002xnm.2 X04502 NM_003064 CCDS13347 P03973 "3640338|12206714" MGI:109297 RGD:621768 107285 LI17-001 HGNC:11092 "ENST00000338380.2|NM_003064.4" HGNC:20709 SLTM SAFB like transcription modulator protein-coding gene gene with protein product Approved 15q22.1 15q22.1 "Met|FLJ13213" RNA binding motif containing 725 2005-11-08 2016-01-13 2023-01-20 79811 ENSG00000137776 OTTHUMG00000074033 uc002afp.3 BC046119 NM_024755 CCDS10168 Q9NWH9 MGI:1913910 RGD:1307526 HGNC:20709 "ENST00000380516.7|NM_024755.4" HGNC:16939 SLU7 SLU7 homolog, splicing factor protein-coding gene gene with protein product Approved 5q33.3 05q33.3 9G8 SLU7 splicing factor homolog (S. cerevisiae) "NTC associated proteins|Spliceosomal C complex|Spliceosomal P complex|U11 small nuclear ribonucleoprotein" "1498|1510|1516|2045" 2006-11-27 2015-07-30 2023-01-20 10569 ENSG00000164609 OTTHUMG00000130324 uc003lyg.4 AF101074 NM_006425 CCDS4352 O95391 "10197984|15728250" MGI:2385598 RGD:631432 605974 HGNC:16939 "ENST00000297151.9|NM_006425.5" HGNC:18746 SLURP1 secreted LY6/PLAUR domain containing 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "ARS|ANUP|MDM|ArsB|LY6LS|LY6-MT" "lymphocyte antigen 6-like secreted|ARS component B" LY6/PLAUR domain containing 1226 2004-11-16 2023-01-20 57152 ENSG00000126233 OTTHUMG00000164685 uc003ywy.3 AY579080 NM_020427 CCDS6387 P55000 "11285253|10211827" MGI:1930923 RGD:1308768 606119 119720 HGNC:18746 "ENST00000246515.2|NM_020427.3" HGNC:18746 HGNC:25549 SLURP2 secreted LY6/PLAUR domain containing 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 LY6/PLAUR domain containing 1226 2016-03-29 2023-01-20 432355 ENSG00000283992 OTTHUMG00000164694 AB081838 NM_177458 CCDS34952 P0DP57 "12573258|26033490" MGI:1916712 RGD:1308195 HGNC:25549 "ENST00000317543.12|NM_177458.3" -HGNC:20922 SLX1A SLX1 homolog A, structure-specific endonuclease subunit protein-coding gene gene with protein product Approved 16p11.2 16p11.2 GIYD1 "GIY-YIG domain containing 1|SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae)" GIY-YIG endonuclease domain containing 2130 2005-05-05 2010-09-13 2015-07-31 2023-01-20 548593 ENSG00000132207 OTTHUMG00000176859 uc002dxg.4 NM_001014999 "CCDS32432|CCDS32431" Q9BQ83 "15358107|19595721" MGI:1915220 RGD:1311568 615822 HGNC:20922 "ENST00000251303.11|NM_001014999.3" +HGNC:20922 SLX1A SLX1 homolog A, structure-specific endonuclease subunit protein-coding gene gene with protein product Approved 16p11.2 16p11.2 GIYD1 "GIY-YIG domain containing 1|SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae)" GIY-YIG endonuclease domain containing 2130 2005-05-05 2010-09-13 2015-07-31 2023-01-20 548593 ENSG00000132207 OTTHUMG00000176859 uc002dxg.4 NM_001014999 "CCDS32431|CCDS32432" Q9BQ83 "15358107|19595721" MGI:1915220 RGD:1311568 615822 HGNC:20922 "ENST00000251303.11|NM_001014999.3" HGNC:44437 SLX1A-SULT1A3 SLX1A-SULT1A3 readthrough (NMD candidate) other readthrough Approved 16p11.2 16p11.2 SLX1A-SULT1A3 readthrough (non-protein coding) 2012-10-08 2013-05-09 2013-05-09 100526830 ENSG00000213599 OTTHUMG00000048084 uc059tcc.1 NR_037608 HGNC:44437 -HGNC:28748 SLX1B SLX1 homolog B, structure-specific endonuclease subunit protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC5178 GIYD2 "GIY-YIG domain containing 2|SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae)" GIY-YIG endonuclease domain containing 2130 2005-05-05 2010-09-13 2015-07-31 2023-01-20 79008 ENSG00000181625 OTTHUMG00000132110 uc002dsx.4 BC015990 NM_024044 "CCDS10649|CCDS10648" Q9BQ83 "15358107|19595721" MGI:1915220 615823 HGNC:28748 +HGNC:28748 SLX1B SLX1 homolog B, structure-specific endonuclease subunit protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC5178 GIYD2 "GIY-YIG domain containing 2|SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae)" GIY-YIG endonuclease domain containing 2130 2005-05-05 2010-09-13 2015-07-31 2023-01-20 79008 ENSG00000181625 OTTHUMG00000132110 uc002dsx.4 BC015990 NM_024044 "CCDS10648|CCDS10649" Q9BQ83 "15358107|19595721" MGI:1915220 615823 HGNC:28748 HGNC:48353 SLX1B-SULT1A4 SLX1B-SULT1A4 readthrough (NMD candidate) other readthrough Approved 16p11.2 16p11.2 2013-05-10 2013-05-10 100526831 ENSG00000260280 OTTHUMG00000176758 NR_037609 HGNC:48353 HGNC:23845 SLX4 SLX4 structure-specific endonuclease subunit protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA1784|KIAA1987|FANCP" Fanconi anemia, complementation group P BTBD12 "BTB (POZ) domain containing 12|SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)" "FA complementation groups|BTB domain containing" "548|861" 2003-12-15 2010-09-13 2013-06-05 2023-01-20 84464 ENSG00000188827 OTTHUMG00000074089 uc002cvp.3 AB058687 NM_032444 CCDS10506 Q8IY92 "11347906|19595721" MGI:106299 RGD:1566009 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_503|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_503.xml" 613278 259354 HGNC:23845 "ENST00000294008.4|NM_032444.4" HGNC:23845 HGNC:16225 SLX4IP SLX4 interacting protein protein-coding gene gene with protein product Approved 20p12.2 20p12.2 dJ1099D15.3 C20orf94 chromosome 20 open reading frame 94 2001-07-17 2012-10-30 2012-10-30 2023-01-20 128710 ENSG00000149346 OTTHUMG00000031873 uc010zre.3 AL035456 NM_001009608 CCDS33439 Q5VYV7 19596235 MGI:1921493 RGD:1563120 615958 HGNC:16225 "ENST00000334534.10|NM_001009608.3" -HGNC:15811 SLX9 SLX9 ribosome biogenesis factor protein-coding gene gene with protein product Approved 21q22.3 21q22.3 PRED56 "C21orf70|FAM207A" "chromosome 21 open reading frame 70|family with sequence similarity 207 member A" Ribosomal biogenesis factors 1729 2001-06-14 2021-05-21 2021-05-21 2023-01-20 85395 ENSG00000160256 OTTHUMG00000090293 uc002zgl.4 NM_058190 "CCDS82682|CCDS13718" Q9NSI2 MGI:1916334 RGD:1311257 HGNC:15811 "ENST00000291634.11|NM_058190.4" +HGNC:15811 SLX9 SLX9 ribosome biogenesis factor protein-coding gene gene with protein product Approved 21q22.3 21q22.3 PRED56 "C21orf70|FAM207A" "chromosome 21 open reading frame 70|family with sequence similarity 207 member A" Ribosomal biogenesis factors 1729 2001-06-14 2021-05-21 2021-05-21 2023-01-20 85395 ENSG00000160256 OTTHUMG00000090293 uc002zgl.4 NM_058190 "CCDS13718|CCDS82682" Q9NSI2 MGI:1916334 RGD:1311257 HGNC:15811 "ENST00000291634.11|NM_058190.4" HGNC:6767 SMAD1 SMAD family member 1 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "MADR1|JV4-1" MADH1 "MAD, mothers against decapentaplegic homolog 1 (Drosophila)|SMAD, mothers against DPP homolog 1 (Drosophila)" SMAD family 750 1996-11-15 2004-05-26 2006-11-06 2023-01-20 4086 ENSG00000170365 OTTHUMG00000161592 uc003ikc.4 U59423 NM_005900 CCDS3765 Q15797 "8653785|8673135" MGI:109452 RGD:3030 601595 HGNC:6767 "ENST00000302085.9|NM_005900.3" HGNC:6767 HGNC:49379 SMAD1-AS1 SMAD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 ENST00000513542 Antisense RNAs 1987 2013-10-22 2013-10-23 104326058 ENSG00000250902 OTTHUMG00000162186 AW087665 NR_126371 24147006 SMAD1-AS1 HGNC:49379 HGNC:49381 SMAD1-AS2 SMAD1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 Antisense RNAs 1987 2013-10-22 2013-10-22 101927659 ENSG00000250582 OTTHUMG00000162185 BC042377 NR_108077 SMAD1-AS2 HGNC:49381 HGNC:6768 SMAD2 SMAD family member 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "MADR2|JV18-1" MADH2 "MAD, mothers against decapentaplegic homolog 2 (Drosophila)|SMAD, mothers against DPP homolog 2 (Drosophila)" SMAD family 750 1996-11-15 2004-05-26 2006-11-06 2023-03-15 4087 ENSG00000175387 OTTHUMG00000132652 uc002lcy.5 U65019 NM_005901 CCDS11934 Q15796 "8752209|8673135" MGI:108051 RGD:3031 SMAD2 601366 471112 HGNC:6768 "ENST00000262160.11|NM_005901.6" HGNC:6768 -HGNC:6769 SMAD3 SMAD family member 3 protein-coding gene gene with protein product Approved 15q22.33 15q22.33 "JV15-2|HsT17436" MADH3 "MAD, mothers against decapentaplegic homolog 3 (Drosophila)|SMAD, mothers against DPP homolog 3 (Drosophila)" SMAD family 750 1996-11-15 2004-05-26 2006-11-06 2023-01-20 4088 ENSG00000166949 OTTHUMG00000133230 uc002aqj.4 BC050743 NM_005902 "CCDS53950|CCDS45288|CCDS10222|CCDS53951" P84022 "8774881|8673135" MGI:1201674 RGD:3032 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=SMAD3 SMAD3 603109 260331 HGNC:6769 "ENST00000327367.9|NM_005902.4" HGNC:6769 -HGNC:56692 SMAD3-AS1 SMAD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q22.33 15q22.33 AC012568.1 Antisense RNAs 1987 2023-01-11 2023-02-22 128266842 ENSG00000259202 36496537 +HGNC:6769 SMAD3 SMAD family member 3 protein-coding gene gene with protein product Approved 15q22.33 15q22.33 "JV15-2|HsT17436" MADH3 "MAD, mothers against decapentaplegic homolog 3 (Drosophila)|SMAD, mothers against DPP homolog 3 (Drosophila)" SMAD family 750 1996-11-15 2004-05-26 2006-11-06 2023-01-20 4088 ENSG00000166949 OTTHUMG00000133230 uc002aqj.4 BC050743 NM_005902 "CCDS10222|CCDS53950|CCDS53951|CCDS45288" P84022 "8774881|8673135" MGI:1201674 RGD:3032 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=SMAD3 SMAD3 603109 260331 HGNC:6769 "ENST00000327367.9|NM_005902.4" HGNC:6769 +HGNC:56692 SMAD3-AS1 SMAD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q22.33 15q22.33 AC012568.1 Antisense RNAs 1987 2023-01-11 2023-02-22 128266842 ENSG00000259202 NR_186224 36496537 HGNC:56759 SMAD3-DT SMAD3 divergent transcript non-coding RNA RNA, long non-coding Approved 15q22.33 15q22.33 Divergent transcripts 1990 2023-02-27 2023-02-27 102723493 ENSG00000259347 NR_135686 HGNC:6770 SMAD4 SMAD family member 4 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 DPC4 MADH4 "MAD, mothers against decapentaplegic homolog 4 (Drosophila)|SMAD, mothers against DPP homolog 4 (Drosophila)" SMAD family 750 1996-11-15 2004-05-26 2006-11-06 2023-01-20 4089 ENSG00000141646 OTTHUMG00000132696 uc060pfa.1 U44378 NM_005359 CCDS11950 Q13485 "8553070|8774881" MGI:894293 RGD:3033 LRG_318|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_318.xml SMAD4 600993 119727 HGNC:6770 "ENST00000342988.8|NM_005359.6" HGNC:6770 HGNC:6771 SMAD5 SMAD family member 5 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "Dwfc|JV5-1" MADH5 "MAD, mothers against decapentaplegic homolog 5 (Drosophila)|SMAD, mothers against DPP homolog 5 (Drosophila)" SMAD family 750 1997-07-01 2004-05-26 2006-11-06 2023-01-20 4090 ENSG00000113658 OTTHUMG00000163212 uc032vlx.1 U59913 NM_005903 CCDS75308 Q99717 8673135 MGI:1328787 RGD:620158 603110 HGNC:6771 "ENST00000545279.6|NM_005903.7" HGNC:30586 SMAD5-AS1 SMAD5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 DAMS SMAD5OS "SMAD family member 5 opposite strand|SMAD5 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2007-07-02 2011-04-13 2012-08-15 2014-11-18 9597 ENSG00000164621 OTTHUMG00000163216 uc003lbi.5 AF086556 NR_026763 Q9Y6J3 10049768 620035 SMAD5-AS1 HGNC:30586 HGNC:6772 SMAD6 SMAD family member 6 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 HsT17432 "MADH7|MADH6" "MAD, mothers against decapentaplegic homolog 6 (Drosophila)|SMAD, mothers against DPP homolog 6 (Drosophila)" SMAD family 750 1997-08-22 2004-05-26 2006-11-06 2023-03-15 4091 ENSG00000137834 OTTHUMG00000133218 uc002aqf.4 BC012986 NM_005585 CCDS10221 O43541 9256479 MGI:1336883 RGD:1305069 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=SMAD6 602931 310221 HGNC:6772 "ENST00000288840.10|NM_005585.5" HGNC:6772 -HGNC:6773 SMAD7 SMAD family member 7 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "MADH8|MADH7" "MAD, mothers against decapentaplegic homolog 7 (Drosophila)|SMAD, mothers against DPP homolog 7 (Drosophila)" SMAD family 750 1997-08-22 2004-05-26 2006-11-06 2023-01-20 4092 ENSG00000101665 OTTHUMG00000132655 uc002ldg.3 AF010193 NM_005904 "CCDS54186|CCDS59317|CCDS11936" O15105 "9256479|9730599" MGI:1100518 RGD:69314 602932 471114 HGNC:6773 "ENST00000262158.8|NM_005904.4" -HGNC:6774 SMAD9 SMAD family member 9 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "SMAD8|SMAD8/9" "MADH6|MADH9" "MAD, mothers against decapentaplegic homolog 9 (Drosophila)|SMAD, mothers against DPP homolog 9 (Drosophila)" SMAD family 750 1997-07-25 2004-05-26 2006-11-06 2023-01-20 4093 ENSG00000120693 OTTHUMG00000016740 uc001uvw.3 NM_005905 "CCDS45032|CCDS9360" O15198 9205116 MGI:1859993 RGD:71004 LRG_703|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_703.xml 603295 189338 HGNC:6774 "ENST00000379826.5|NM_001127217.3" HGNC:6774 +HGNC:6773 SMAD7 SMAD family member 7 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "MADH8|MADH7" "MAD, mothers against decapentaplegic homolog 7 (Drosophila)|SMAD, mothers against DPP homolog 7 (Drosophila)" SMAD family 750 1997-08-22 2004-05-26 2006-11-06 2023-01-20 4092 ENSG00000101665 OTTHUMG00000132655 uc002ldg.3 AF010193 NM_005904 "CCDS11936|CCDS54186|CCDS59317" O15105 "9256479|9730599" MGI:1100518 RGD:69314 602932 471114 HGNC:6773 "ENST00000262158.8|NM_005904.4" +HGNC:6774 SMAD9 SMAD family member 9 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "SMAD8|SMAD8/9" "MADH6|MADH9" "MAD, mothers against decapentaplegic homolog 9 (Drosophila)|SMAD, mothers against DPP homolog 9 (Drosophila)" SMAD family 750 1997-07-25 2004-05-26 2006-11-06 2023-01-20 4093 ENSG00000120693 OTTHUMG00000016740 uc001uvw.3 NM_005905 "CCDS9360|CCDS45032" O15198 9205116 MGI:1859993 RGD:71004 LRG_703|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_703.xml 603295 189338 HGNC:6774 "ENST00000379826.5|NM_001127217.3" HGNC:6774 HGNC:39963 SMAD9-IT1 SMAD9 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 SMAD9-AS1 "SMAD9 antisense RNA 1 (non-protein coding)|SMAD9 antisense RNA 1" Intronic transcripts 1989 2011-04-18 2014-05-12 2014-05-12 2014-11-19 100874072 ENSG00000236711 OTTHUMG00000016743 SMAD9-IT1 HGNC:26918 SMAGP small cell adhesion glycoprotein protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MGC149453|MGC149454|hSMAGP" small trans-membrane and glycosylated protein 2009-09-21 2023-03-15 57228 ENSG00000170545 OTTHUMG00000185196 uc001rye.2 NM_020467 CCDS44889 Q0VAQ4 15021913 MGI:2448476 RGD:727777 HGNC:26918 "ENST00000603798.6|NM_001031628.2" HGNC:54417 SMANTIS SMARCA4 interacting SWI/SNF chromatin remodeling complex scaffold lncRNA non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 "MANTIS|ANXA4-AS|n342419" Long non-coding RNAs with non-systematic symbols 1992 2022-07-20 2022-07-20 107985770 ENSG00000288869 NR_164153 "28351900|31222221|34081836" -HGNC:19651 SMAP1 small ArfGAP 1 protein-coding gene gene with protein product Approved 6q13 06q13 "FLJ13159|SMAP-1" "stromal membrane-associated protein 1|stromal membrane-associated GTPase-activating protein 1" ArfGAPs 395 2003-05-22 2008-09-05 2023-01-20 60682 ENSG00000112305 OTTHUMG00000014996 uc003pfs.5 AK023221 NM_001044305 "CCDS64459|CCDS4973|CCDS75478|CCDS43478" Q8IYB5 "9644265|12119110" MGI:2138261 RGD:1585595 611372 HGNC:19651 "ENST00000370455.8|NM_001044305.3" -HGNC:25082 SMAP2 small ArfGAP2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 SMAP1L "stromal membrane-associated protein 1-like|stromal membrane-associated GTPase-activating protein 2" ArfGAPs 395 2005-06-10 2008-01-09 2008-09-05 2023-01-20 64744 ENSG00000084070 OTTHUMG00000007301 uc001cfj.4 AL137764 NM_022733 "CCDS55593|CCDS55592|CCDS451|CCDS72763" Q8WU79 16571680 MGI:1917030 RGD:1308418 616916 HGNC:25082 "ENST00000372718.8|NM_022733.3" -HGNC:11097 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 protein-coding gene gene with protein product Approved Xq25-q26.1 Xq25-q26.1 "SNF2LB|NURF140|ISWI|SWI|hSNF2L" "SNF2L1|SNF2L" "Myb/SANT domain containing|NURF complex" "532|1363" 1992-11-30 2023-03-15 6594 ENSG00000102038 OTTHUMG00000022370 uc011mul.3 M88163 NM_003069 "CCDS76018|CCDS14612|CCDS76019" P28370 "1408766|14609955" MGI:1935127 RGD:1561046 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMARCA1 300012 HGNC:11097 "ENST00000371121.5|NM_001282874.2" HGNC:11097 -HGNC:11098 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "BAF190|hSNF2a|hBRM|Sth1p|SNF2LA|BRM|SNF2|SWI2" brahma homolog SNF2L2 "Bromodomain containing|BAF complex|GBAF complex" "1232|1604|1606" 1994-07-22 2006-11-09 2023-01-20 6595 ENSG00000080503 OTTHUMG00000019445 uc064rwa.2 D26155 NM_003070 "CCDS75807|CCDS83338|CCDS83339|CCDS75808|CCDS34978|CCDS34977" P51531 8012116 MGI:99603 RGD:1302988 LRG_882|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_882.xml 600014 292297 objectId:2739 HGNC:11098 "ENST00000349721.8|NM_003070.5" HGNC:11098 +HGNC:19651 SMAP1 small ArfGAP 1 protein-coding gene gene with protein product Approved 6q13 06q13 "FLJ13159|SMAP-1" "stromal membrane-associated protein 1|stromal membrane-associated GTPase-activating protein 1" ArfGAPs 395 2003-05-22 2008-09-05 2023-01-20 60682 ENSG00000112305 OTTHUMG00000014996 uc003pfs.5 AK023221 NM_001044305 "CCDS4973|CCDS43478|CCDS75478|CCDS64459" Q8IYB5 "9644265|12119110" MGI:2138261 RGD:1585595 611372 HGNC:19651 "ENST00000370455.8|NM_001044305.3" +HGNC:25082 SMAP2 small ArfGAP2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 SMAP1L "stromal membrane-associated protein 1-like|stromal membrane-associated GTPase-activating protein 2" ArfGAPs 395 2005-06-10 2008-01-09 2008-09-05 2023-01-20 64744 ENSG00000084070 OTTHUMG00000007301 uc001cfj.4 AL137764 NM_022733 "CCDS72763|CCDS55592|CCDS55593|CCDS451" Q8WU79 16571680 MGI:1917030 RGD:1308418 616916 HGNC:25082 "ENST00000372718.8|NM_022733.3" +HGNC:11097 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 protein-coding gene gene with protein product Approved Xq25-q26.1 Xq25-q26.1 "SNF2LB|NURF140|ISWI|SWI|hSNF2L" "SNF2L1|SNF2L" "Myb/SANT domain containing|NURF complex" "532|1363" 1992-11-30 2023-03-15 6594 ENSG00000102038 OTTHUMG00000022370 uc011mul.3 M88163 NM_003069 "CCDS14612|CCDS76018|CCDS76019" P28370 "1408766|14609955" MGI:1935127 RGD:1561046 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMARCA1 300012 HGNC:11097 "ENST00000371121.5|NM_001282874.2" HGNC:11097 +HGNC:11098 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "BAF190|hSNF2a|hBRM|Sth1p|SNF2LA|BRM|SNF2|SWI2" brahma homolog SNF2L2 "Bromodomain containing|BAF complex|GBAF complex" "1232|1604|1606" 1994-07-22 2006-11-09 2023-01-20 6595 ENSG00000080503 OTTHUMG00000019445 uc064rwa.2 D26155 NM_003070 "CCDS75808|CCDS34978|CCDS83339|CCDS83338|CCDS34977|CCDS75807" P51531 8012116 MGI:99603 RGD:1302988 LRG_882|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_882.xml 600014 292297 objectId:2739 HGNC:11098 "ENST00000349721.8|NM_003070.5" HGNC:11098 HGNC:56062 SMARCA2-AS1 SMARCA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 Antisense RNAs 1987 2021-12-10 2021-12-10 123706518 ENSG00000236199 -HGNC:11100 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "hSNF2b|BRG1|BAF190|SNF2|SWI2|SNF2-BETA|SNF2LB|FLJ39786" "SNF2-like 4|global transcription activator homologous sequence|sucrose nonfermenting-like 4|mitotic growth and transcription activator|BRM/SWI2-related gene 1|homeotic gene regulator|nuclear protein GRB1|brahma protein-like 1|ATP-dependent helicase SMARCA4" SNF2L4 "Bromodomain containing|BAF complex|PBAF complex|GBAF complex" "1232|1604|1605|1606" 1995-07-17 2006-11-09 2023-03-15 6597 ENSG00000127616 OTTHUMG00000169272 uc060tnr.1 D26156 NM_003072 "CCDS12253|CCDS45972|CCDS54217|CCDS54218|CCDS92517|CCDS45973" P51532 8208605 MGI:88192 RGD:621728 LRG_878|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_878.xml SMARCA4 603254 225351 objectId:2740 HGNC:11100 "ENST00000344626.10|NM_003072.5" HGNC:11100 +HGNC:11100 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "hSNF2b|BRG1|BAF190|SNF2|SWI2|SNF2-BETA|SNF2LB|FLJ39786" "SNF2-like 4|global transcription activator homologous sequence|sucrose nonfermenting-like 4|mitotic growth and transcription activator|BRM/SWI2-related gene 1|homeotic gene regulator|nuclear protein GRB1|brahma protein-like 1|ATP-dependent helicase SMARCA4" SNF2L4 "Bromodomain containing|BAF complex|PBAF complex|GBAF complex" "1232|1604|1605|1606" 1995-07-17 2006-11-09 2023-03-15 6597 ENSG00000127616 OTTHUMG00000169272 uc060tnr.1 D26156 NM_003072 "CCDS54217|CCDS92517|CCDS45972|CCDS45973|CCDS12253|CCDS54218" P51532 8208605 MGI:88192 RGD:621728 LRG_878|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_878.xml SMARCA4 603254 225351 objectId:2740 HGNC:11100 "ENST00000344626.10|NM_003072.5" HGNC:11100 HGNC:11101 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "hSNF2H|hISWI|ISWI" "Myb/SANT domain containing|Chromatin accessibility complex|B-WICH chromatin-remodelling complex subunits" "532|1633|1787" 1998-10-01 2023-01-20 8467 ENSG00000153147 OTTHUMG00000161474 uc003ijg.4 AB010882 NM_003601 CCDS3761 O60264 9730600 MGI:1935129 RGD:1308832 603375 376910 HGNC:11101 "ENST00000283131.4|NM_003601.4" HGNC:39982 SMARCA5-AS1 SMARCA5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 SMARCA5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100128055 ENSG00000245112 OTTHUMG00000161539 uc010iom.3 NR_104027 SMARCA5-AS1 HGNC:39982 -HGNC:18398 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 protein-coding gene gene with protein product Approved 4q22.3 04q22.3 "ETL1|DKFZP762K2015|KIAA1122|DKFZp762K2015" 2003-05-29 2023-01-20 56916 ENSG00000163104 OTTHUMG00000130971 uc003htc.5 AB032948 NM_020159 "CCDS58914|CCDS3639|CCDS47101" Q9H4L7 11031099 MGI:95453 RGD:1309640 612761 289472 HGNC:18398 "ENST00000354268.9|NM_020159.5" HGNC:18398 +HGNC:18398 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 protein-coding gene gene with protein product Approved 4q22.3 04q22.3 "ETL1|DKFZP762K2015|KIAA1122|DKFZp762K2015" 2003-05-29 2023-01-20 56916 ENSG00000163104 OTTHUMG00000130971 uc003htc.5 AB032948 NM_020159 "CCDS58914|CCDS47101|CCDS3639" Q9H4L7 11031099 MGI:95453 RGD:1309640 612761 289472 HGNC:18398 "ENST00000354268.9|NM_020159.5" HGNC:18398 HGNC:53364 SMARCAD1-DT SMARCAD1 divergent transcript non-coding RNA RNA, long non-coding Approved 4q22.2 04q22.2 Divergent transcripts 1990 2021-04-29 2021-04-29 101929210 ENSG00000246541 OTTHUMG00000161244 NR_125922 HGNC:11102 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 protein-coding gene gene with protein product Approved 2q35 02q35 "HHARP|HARP" "HepA-related protein|ATP-driven annealing helicase" 2000-02-18 2016-05-10 2023-01-20 50485 ENSG00000138375 OTTHUMG00000133055 uc002vgc.5 AF210833 NM_001127207 CCDS2403 Q9NZC9 "10713074|10857751|18974355" MGI:1859183 RGD:1306134 "SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia|http://structure.bmc.lu.se/idbase/SMARCAL1base/|LRG_108|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_108.xml" 606622 119731 HGNC:11102 "ENST00000357276.9|NM_014140.4" HGNC:11102 HGNC:40555 SMARCAL1-AS1 SMARCAL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2020-03-27 2020-03-27 107985985 ENSG00000235042 OTTHUMG00000154843 XR_001739881 -HGNC:11103 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "BAF47|Ini1|INI-1|Snr1|hSNFS|Sfh1p|RDT|PPP1R144|SNF5" "sucrose nonfermenting, yeast, homolog-like 1|integrase interactor 1|malignant rhabdoid tumor suppressor|protein phosphatase 1, regulatory subunit 144" SNF5L1 "Protein phosphatase 1 regulatory subunits|BAF complex|PBAF complex" "694|1604|1605" 1995-08-21 2023-01-20 6598 ENSG00000099956 OTTHUMG00000150737 uc002zyb.4 U04847 NM_003073 "CCDS13817|CCDS46671|CCDS82699" Q12824 "7801128|10319872|10365963" MGI:1328366 RGD:1308761 LRG_520|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_520.xml SMARCB1 601607 119735 HGNC:11103 "ENST00000644036.2|NM_003073.5" HGNC:11103 +HGNC:11103 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "BAF47|Ini1|INI-1|Snr1|hSNFS|Sfh1p|RDT|PPP1R144|SNF5" "sucrose nonfermenting, yeast, homolog-like 1|integrase interactor 1|malignant rhabdoid tumor suppressor|protein phosphatase 1, regulatory subunit 144" SNF5L1 "Protein phosphatase 1 regulatory subunits|BAF complex|PBAF complex" "694|1604|1605" 1995-08-21 2023-01-20 6598 ENSG00000099956 OTTHUMG00000150737 uc002zyb.4 U04847 NM_003073 "CCDS82699|CCDS46671|CCDS13817" Q12824 "7801128|10319872|10365963" MGI:1328366 RGD:1308761 LRG_520|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_520.xml SMARCB1 601607 119735 HGNC:11103 "ENST00000644036.2|NM_003073.5" HGNC:11103 HGNC:11104 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "BAF155|SRG3|Rsc8|CRACC1" SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 "Myb/SANT domain containing|BAF complex|PBAF complex|GBAF complex|Small nucleolar RNA protein coding host genes" "532|1604|1605|1606|1835" 1998-05-15 2016-04-04 2023-01-20 6599 ENSG00000173473 OTTHUMG00000133519 uc003crq.3 U66615 NM_003074 CCDS2758 Q92922 8804307 MGI:1203524 RGD:1304850 601732 HGNC:11104 "ENST00000254480.10|NM_003074.4" -HGNC:11105 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "BAF170|Rsc8|CRACC2" SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 "Myb/SANT domain containing|BAF complex|PBAF complex" "532|1604|1605" 1998-05-15 2016-04-04 2023-01-20 6601 ENSG00000139613 OTTHUMG00000170288 uc001skb.4 U66616 NM_001130420 "CCDS81698|CCDS8908|CCDS8907|CCDS55835" Q8TAQ2 "8804307|9693044" MGI:1915344 RGD:1597704 601734 471116 HGNC:11105 "ENST00000550164.6|NM_001330288.2" HGNC:11105 +HGNC:11105 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "BAF170|Rsc8|CRACC2" SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 "Myb/SANT domain containing|BAF complex|PBAF complex" "532|1604|1605" 1998-05-15 2016-04-04 2023-01-20 6601 ENSG00000139613 OTTHUMG00000170288 uc001skb.4 U66616 NM_001130420 "CCDS8907|CCDS55835|CCDS8908|CCDS81698" Q8TAQ2 "8804307|9693044" MGI:1915344 RGD:1597704 601734 471116 HGNC:11105 "ENST00000550164.6|NM_001330288.2" HGNC:11105 HGNC:11106 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "BAF60A|Rsc6p|CRACD1" "BAF complex|PBAF complex|GBAF complex" "1604|1605|1606" 1998-05-15 2023-01-20 6602 ENSG00000066117 OTTHUMG00000150194 uc001rvx.5 U66617 NM_003076 "CCDS8797|CCDS8798" Q96GM5 "8804307|9693044|12917342" MGI:1933623 RGD:1305406 601735 HGNC:11106 "ENST00000394963.9|NM_003076.5" HGNC:11106 -HGNC:11107 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "BAF60B|Rsc6p|CRACD2|PRO2451" "mammalian chromatin remodeling complex BRG1-associated factor 60B|Swp73-like protein|chromatin remodeling complex BAF60B subunit|SWI/SNF complex 60 kDa subunit B" "BAF complex|PBAF complex|GBAF complex" "1604|1605|1606" 1998-05-15 2023-01-20 6603 ENSG00000108604 OTTHUMG00000179045 uc010deb.2 U66618 NM_001098426 "CCDS45756|CCDS82187|CCDS82188" Q92925 "8804307|9693044" MGI:1933621 RGD:69289 601736 HGNC:11107 "ENST00000448276.7|NM_001098426.2" HGNC:11107 +HGNC:11107 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "BAF60B|Rsc6p|CRACD2|PRO2451" "mammalian chromatin remodeling complex BRG1-associated factor 60B|Swp73-like protein|chromatin remodeling complex BAF60B subunit|SWI/SNF complex 60 kDa subunit B" "BAF complex|PBAF complex|GBAF complex" "1604|1605|1606" 1998-05-15 2023-01-20 6603 ENSG00000108604 OTTHUMG00000179045 uc010deb.2 U66618 NM_001098426 "CCDS82188|CCDS82187|CCDS45756" Q92925 "8804307|9693044" MGI:1933621 RGD:69289 601736 HGNC:11107 "ENST00000448276.7|NM_001098426.2" HGNC:11107 HGNC:11108 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "BAF60C|Rsc6p|CRACD3" "mammalian chromatin remodeling complex BRG1-associated factor 60C|Swp73-like protein|SWI/SNF complex 60 kDa subunit C|60kDa BRG-1/Brm associated factor subunit c" "BAF complex|PBAF complex|GBAF complex" "1604|1605|1606" 1998-05-15 2023-01-20 6604 ENSG00000082014 OTTHUMG00000157431 uc003wjs.4 U66619 NM_001003801 "CCDS5924|CCDS34780" Q6STE5 "8804307|9693044" MGI:1914243 RGD:1311869 601737 HGNC:11108 "ENST00000262188.13|NM_001003801.2" HGNC:11109 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 BAF57 "BAF complex|PBAF complex" "1604|1605" 1998-05-15 2023-01-20 6605 ENSG00000073584 OTTHUMG00000133367 uc002hux.4 AF035262 NM_003079 CCDS11370 Q969G3 9435219 MGI:1927347 RGD:1304726 SMARCE1 603111 332111 HGNC:11109 "ENST00000348513.12|NM_003079.5" HGNC:11109 HGNC:39731 SMARCE1P1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 1 pseudogene pseudogene Approved 11q22.3 11q22.3 2011-03-24 2014-02-12 100271884 ENSG00000225215 OTTHUMG00000152976 NG_011597 HGNC:39731 @@ -35999,19 +36002,19 @@ HGNC:51208 SMARCE1P7 SWI/SNF related, matrix associated, actin dependent regulat HGNC:53072 SMASR SMAD3 associated long non-coding RNA non-coding RNA RNA, long non-coding Approved 15q22.32 15q22.32 Smad3-associated long non-coding RNA LINC02206 long intergenic non-protein coding RNA 2206 Long non-coding RNAs with non-systematic symbols 1992 2017-01-17 2023-02-27 2023-02-27 2023-03-03 102723481 ENSG00000259289 OTTHUMG00000172297 NR_135687 33931741 HGNC:53072 HGNC:53806 SMBD1P somatomedin B domain containing 1, pseudogene pseudogene pseudogene Approved 3q29 03q29 2018-01-05 2018-01-12 111674481 ENSG00000283426 OTTHUMG00000182568 NG_056137 MGI:2685779 HGNC:53806 HGNC:11111 SMC1A structural maintenance of chromosomes 1A protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DXS423E|KIAA0178|SB1.8|Smcb" SMC1L1 "SMC1 (structural maintenance of chromosomes 1, yeast)-like 1|SMC1 structural maintenance of chromosomes 1-like 1 (yeast)" "Structural maintenance of chromosomes proteins|Cohesin complex|MicroRNA protein coding host genes" "761|1060|1691" 2000-08-11 2006-07-06 2006-07-06 2023-01-20 8243 ENSG00000072501 OTTHUMG00000021614 uc004dsg.4 S78271 NM_006306 "CCDS75985|CCDS14352" Q14683 "7757074|17273969" MGI:1344345 RGD:61991 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMC1A|LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=SMC1A|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMC1A|LRG_773|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_773.xml" 300040 119743 HGNC:11111 "ENST00000322213.9|NM_006306.4" HGNC:11111 -HGNC:11112 SMC1B structural maintenance of chromosomes 1B protein-coding gene gene with protein product Approved 22q13.31 22q13.31 bK268H5 SMC1L2 "SMC1 (structural maintenance of chromosomes 1, yeast)-like 1|SMC1 structural maintenance of chromosomes 1-like 2 (yeast)" "Structural maintenance of chromosomes proteins|Cohesin complex" "761|1060" 2000-01-12 2006-07-06 2006-07-06 2023-01-20 27127 ENSG00000077935 OTTHUMG00000151334 uc003bgc.4 AJ504806 NM_148674 "CCDS74876|CCDS43027" Q8NDV3 "10591208|11564881" MGI:2154049 RGD:1308791 608685 HGNC:11112 "ENST00000357450.9|NM_148674.5" +HGNC:11112 SMC1B structural maintenance of chromosomes 1B protein-coding gene gene with protein product Approved 22q13.31 22q13.31 bK268H5 SMC1L2 "SMC1 (structural maintenance of chromosomes 1, yeast)-like 1|SMC1 structural maintenance of chromosomes 1-like 2 (yeast)" "Structural maintenance of chromosomes proteins|Cohesin complex" "761|1060" 2000-01-12 2006-07-06 2006-07-06 2023-01-20 27127 ENSG00000077935 OTTHUMG00000151334 uc003bgc.4 AJ504806 NM_148674 "CCDS43027|CCDS74876" Q8NDV3 "10591208|11564881" MGI:2154049 RGD:1308791 608685 HGNC:11112 "ENST00000357450.9|NM_148674.5" HGNC:14011 SMC2 structural maintenance of chromosomes 2 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "hCAP-E|CAP-E" SMC2L1 "SMC2 (structural maintenance of chromosomes 2, yeast)-like 1|SMC2 structural maintenance of chromosomes 2-like 1 (yeast)" "Structural maintenance of chromosomes proteins|Condensin I subunits|Condensin II subunits" "761|1452|1453" 2001-02-22 2006-07-06 2006-07-06 2023-01-20 10592 ENSG00000136824 OTTHUMG00000020401 uc011lvl.3 AF092563 NM_001042550 CCDS35086 O95347 9789013 MGI:106067 RGD:1305227 605576 HGNC:14011 "ENST00000374793.8|NM_006444.3" HGNC:50827 SMC2-DT SMC2 divergent transcript non-coding RNA RNA, long non-coding Approved 9q31.1 09q31.1 SMC2-AS1 SMC2 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-06-25 2020-09-29 2020-09-29 2020-09-29 101928550 ENSG00000270332 OTTHUMG00000185235 NR_121580 SMC2-AS1 HGNC:50827 HGNC:2468 SMC3 structural maintenance of chromosomes 3 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "HCAP|BAM|SMC3L1|bamacan" bamacan proteoglycan CSPG6 chondroitin sulfate proteoglycan 6 (bamacan) "Proteoglycans|Structural maintenance of chromosomes proteins|Cohesin complex" "570|761|1060" 1999-08-20 2006-07-06 2006-07-06 2023-01-20 9126 ENSG00000108055 OTTHUMG00000019042 uc001kze.4 AF020043 NM_005445 CCDS31285 Q9UQE7 "9506951|10358101|17273969" MGI:1339795 RGD:62006 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMC3|LRG_774|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_774.xml" 606062 138480 HGNC:2468 "ENST00000361804.5|NM_005445.4" HGNC:2468 HGNC:54642 SMC3P1 SMC3 pseudogene 1 pseudogene pseudogene Approved 2q11.2 02q11.2 2019-10-31 2019-10-31 550644 ENSG00000231822 NG_005084 -HGNC:14013 SMC4 structural maintenance of chromosomes 4 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "hCAP-C|CAP-C" SMC4L1 "SMC4 (structural maintenance of chromosomes 4, yeast)-like 1|SMC4 structural maintenance of chromosomes 4-like 1 (yeast)" "Structural maintenance of chromosomes proteins|Condensin I subunits|Condensin II subunits|MicroRNA protein coding host genes" "761|1452|1453|1691" 2001-02-22 2006-07-06 2006-07-06 2023-01-20 10051 ENSG00000113810 OTTHUMG00000159006 uc003fdh.5 AF092564 NM_001002800 "CCDS3189|CCDS75046" Q9NTJ3 "9789013|10319587" MGI:1917349 RGD:1306680 605575 HGNC:14013 "ENST00000357388.8|NM_001002800.3" +HGNC:14013 SMC4 structural maintenance of chromosomes 4 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "hCAP-C|CAP-C" SMC4L1 "SMC4 (structural maintenance of chromosomes 4, yeast)-like 1|SMC4 structural maintenance of chromosomes 4-like 1 (yeast)" "Structural maintenance of chromosomes proteins|Condensin I subunits|Condensin II subunits|MicroRNA protein coding host genes" "761|1452|1453|1691" 2001-02-22 2006-07-06 2006-07-06 2023-01-20 10051 ENSG00000113810 OTTHUMG00000159006 uc003fdh.5 AF092564 NM_001002800 "CCDS75046|CCDS3189" Q9NTJ3 "9789013|10319587" MGI:1917349 RGD:1306680 605575 HGNC:14013 "ENST00000357388.8|NM_001002800.3" HGNC:51919 SMC4P1 structural maintenance of chromosomes 4 pseudogene 1 pseudogene pseudogene Approved 2q22.1 02q22.1 2015-10-06 2015-10-06 100421125 ENSG00000229568 OTTHUMG00000153586 NG_023732 PGOHUM00000298738 HGNC:51919 HGNC:20465 SMC5 structural maintenance of chromosomes 5 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 KIAA0594 SMC5L1 SMC5 structural maintenance of chromosomes 5-like 1 (yeast) "Structural maintenance of chromosomes proteins|SMC5-6 protein complex" "761|1034" 2003-02-17 2006-07-06 2006-07-06 2023-01-20 23137 ENSG00000198887 OTTHUMG00000019992 uc004ahr.3 AB011166 NM_015110 CCDS6632 Q8IY18 9628581 MGI:2385088 RGD:1307492 609386 HGNC:20465 "ENST00000361138.7|NM_015110.4" HGNC:48718 SMC5-DT SMC5 divergent transcript non-coding RNA RNA, long non-coding Approved 9q21.12 09q21.12 MAMDC2-AS2 SMC5-AS1 SMC5 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-06-07 2020-10-09 2020-10-09 2020-10-09 100507299 ENSG00000268364 OTTHUMG00000182521 NR_039990 SMC5-AS1 HGNC:48718 HGNC:20466 SMC6 structural maintenance of chromosomes 6 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 FLJ22116 SMC6L1 SMC6 structural maintenance of chromosomes 6-like 1 (yeast) "Structural maintenance of chromosomes proteins|SMC5-6 protein complex" "761|1034" 2003-02-17 2006-07-06 2006-07-06 2023-01-20 79677 ENSG00000163029 OTTHUMG00000090675 uc010exo.4 AJ310551 NM_024624 CCDS1690 Q96SB8 11230166 MGI:1914491 RGD:1311214 609387 HGNC:20466 "ENST00000448223.7|NM_001142286.2" HGNC:29090 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "KIAA0650|FSHD2" 2005-03-22 2023-01-20 23347 ENSG00000101596 OTTHUMG00000178235 uc002klm.5 AB014550 NM_015295 CCDS45822 A6NHR9 "18425126|24075187" MGI:1921605 RGD:1307234 614982 320176 HGNC:29090 "ENST00000320876.11|NM_015295.3" HGNC:29090 HGNC:27407 SMCO1 single-pass membrane protein with coiled-coil domains 1 protein-coding gene gene with protein product Approved 3q29 03q29 "FLJ41923|DKFZp313B0440" C3orf43 chromosome 3 open reading frame 43 2006-01-12 2013-03-08 2016-02-05 2023-01-20 255798 ENSG00000214097 OTTHUMG00000155581 uc003fws.4 AK123917 NM_001320473 CCDS43192 Q147U7 MGI:1916826 RGD:1562500 HGNC:27407 "ENST00000397537.3|NM_001077657.3" -HGNC:34448 SMCO2 single-pass membrane protein with coiled-coil domains 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 LOC341346 C12orf70 chromosome 12 open reading frame 70 2008-07-25 2013-03-11 2016-02-05 2023-01-20 341346 ENSG00000165935 OTTHUMG00000169205 uc010sjq.2 NM_001145010 "CCDS91667|CCDS44852" A6NFE2 MGI:1916621 RGD:2320294 HGNC:34448 "ENST00000535986.2|NM_001395208.2" +HGNC:34448 SMCO2 single-pass membrane protein with coiled-coil domains 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 LOC341346 C12orf70 chromosome 12 open reading frame 70 2008-07-25 2013-03-11 2016-02-05 2023-01-20 341346 ENSG00000165935 OTTHUMG00000169205 uc010sjq.2 NM_001145010 "CCDS44852|CCDS91667" A6NFE2 MGI:1916621 RGD:2320294 HGNC:34448 "ENST00000535986.2|NM_001395208.2" HGNC:34401 SMCO3 single-pass membrane protein with coiled-coil domains 3 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 LOC440087 C12orf69 chromosome 12 open reading frame 69 2008-07-25 2013-03-11 2016-02-05 2023-01-20 440087 ENSG00000179256 OTTHUMG00000167474 uc001rck.1 NM_001013698 CCDS41759 A2RU48 MGI:2443451 RGD:1560652 HGNC:34401 "ENST00000316048.2|NM_001013698.2" HGNC:24810 SMCO4 single-pass membrane protein with coiled-coil domains 4 protein-coding gene gene with protein product Approved 11q21 11q21 FN5 C11orf75 chromosome 11 open reading frame 75 2006-03-16 2013-03-11 2016-02-05 2023-01-20 56935 ENSG00000166002 OTTHUMG00000167442 uc001pds.5 BC031564 NM_020179 CCDS8292 Q9NRQ5 10863097 MGI:3039636 RGD:1309410 609477 HGNC:24810 "ENST00000298966.7|NM_020179.3" HGNC:49559 SMCO4P1 single-pass membrane protein with coiled-coil domains 4 pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 2014-01-14 2016-02-05 2016-02-05 728675 ENSG00000267384 OTTHUMG00000181820 NG_029317 HGNC:49559 @@ -36030,9 +36033,9 @@ HGNC:49862 SMG1P5 SMG1 pseudogene 5 pseudogene pseudogene Approved 16p11.2 16p11 HGNC:49863 SMG1P6 SMG1 pseudogene 6 pseudogene pseudogene Approved 16p11.2 16p11.2 SMG1P6, nonsense mediated mRNA decay associated PI3K related kinasepseudogene 6 2014-03-18 2017-09-28 2020-04-20 100422558 ENSG00000254634 OTTHUMG00000166914 NR_135312 PGOHUM00000262284 HGNC:49863 HGNC:49864 SMG1P7 SMG1 pseudogene 7 pseudogene pseudogene Approved 16q22.1 16q22.1 SMG1P7, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 7 2014-03-18 2017-09-28 2017-09-28 100506060 ENSG00000261556 OTTHUMG00000177041 NR_033959 PGOHUM00000262300 HGNC:49864 HGNC:24644 SMG5 SMG5 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 1q22 01q22 "KIAA1089|LPTS-RP1|LPTSRP1|RP11-54H19.7|SMG-5|EST1B" EST1 telomerase component homolog B (S. cerevisiae) "smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG5, nonsense mediated mRNA decay factor" 2006-02-16 2019-01-25 2023-01-20 23381 ENSG00000198952 OTTHUMG00000017491 uc001foc.5 AB029012 NM_015327 CCDS1137 Q9UPR3 "12676087|12699629" MGI:2447364 RGD:1584731 610962 HGNC:24644 "ENST00000361813.5|NM_015327.3" -HGNC:17809 SMG6 SMG6 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "KIAA0732|SMG-6|EST1A" EST1 telomerase component homolog A (S. cerevisiae) C17orf31 "chromosome 17 open reading frame 31|smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG6 nonsense mediated mRNA decay factor|SMG6, nonsense mediated mRNA decay factor" Endoribonucleases 1687 2001-12-19 2006-02-16 2019-01-25 2023-03-15 23293 ENSG00000070366 OTTHUMG00000177578 uc002fub.2 AB018275 NM_001256827 "CCDS11016|CCDS58498" Q86US8 "12676087|12699629" MGI:2144117 RGD:1595918 610963 HGNC:17809 "ENST00000263073.11|NM_017575.5" +HGNC:17809 SMG6 SMG6 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "KIAA0732|SMG-6|EST1A" EST1 telomerase component homolog A (S. cerevisiae) C17orf31 "chromosome 17 open reading frame 31|smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG6 nonsense mediated mRNA decay factor|SMG6, nonsense mediated mRNA decay factor" Endoribonucleases 1687 2001-12-19 2006-02-16 2019-01-25 2023-03-15 23293 ENSG00000070366 OTTHUMG00000177578 uc002fub.2 AB018275 NM_001256827 "CCDS58498|CCDS11016" Q86US8 "12676087|12699629" MGI:2144117 RGD:1595918 610963 HGNC:17809 "ENST00000263073.11|NM_017575.5" HGNC:1220 SMG6-IT1 SMG6 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 C17orf6 "chromosome 17 open reading frame 6|SMG6 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2000-05-05 2012-08-15 2015-02-25 2016-11-11 53400 ENSG00000278941 OTTHUMG00000177860 uc002fuc.1 AJ276246 -HGNC:16792 SMG7 SMG7 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "KIAA0250|EST1C|SGA56M|SMG-7" EST1 telomerase component homolog C (S. cerevisiae) C1orf16 "chromosome 1 open reading frame 16|smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG7, nonsense mediated mRNA decay factor" 2001-10-08 2006-02-16 2019-01-25 2023-01-20 9887 ENSG00000116698 OTTHUMG00000035221 uc001gqg.4 D87437 NM_014837 "CCDS91123|CCDS1355|CCDS81410|CCDS41445|CCDS53445|CCDS53444|CCDS91124" Q92540 "14636577|15721257" MGI:2682334 RGD:1310761 610964 HGNC:16792 "ENST00000688051.1|NM_001375584.1" HGNC:16792 +HGNC:16792 SMG7 SMG7 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "KIAA0250|EST1C|SGA56M|SMG-7" EST1 telomerase component homolog C (S. cerevisiae) C1orf16 "chromosome 1 open reading frame 16|smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG7, nonsense mediated mRNA decay factor" 2001-10-08 2006-02-16 2019-01-25 2023-01-20 9887 ENSG00000116698 OTTHUMG00000035221 uc001gqg.4 D87437 NM_014837 "CCDS91123|CCDS1355|CCDS41445|CCDS53445|CCDS53444|CCDS91124|CCDS81410" Q92540 "14636577|15721257" MGI:2682334 RGD:1310761 610964 HGNC:16792 "ENST00000688051.1|NM_001375584.1" HGNC:16792 HGNC:24518 SMG7-AS1 SMG7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 DKFZP564C196 SMG7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-01 2012-08-15 2014-11-19 284649 ENSG00000232860 OTTHUMG00000035521 uc001gqe.4 BC032873 NR_040063 12477932 SMG7-AS1 HGNC:24518 HGNC:25551 SMG8 SMG8 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 17q22 17q22 "FLJ10587|FLJ23205" C17orf71 "chromosome 17 open reading frame 71|smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG8, nonsense mediated mRNA decay factor" SMG1 complex 1962 2005-12-19 2011-06-21 2019-01-25 2023-01-20 55181 ENSG00000167447 OTTHUMG00000179365 uc060ibx.1 AL834490 NM_018149 CCDS11615 Q8ND04 19417104 MGI:1921383 RGD:1306862 613175 HGNC:25551 "ENST00000300917.10|NM_018149.7" HGNC:25763 SMG9 SMG9 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ12886 C19orf61 "chromosome 19 open reading frame 61|smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG9, nonsense mediated mRNA decay factor" SMG1 complex 1962 2007-04-12 2011-06-21 2019-01-25 2023-01-20 56006 ENSG00000105771 OTTHUMG00000150337 uc002oxj.3 BC008869 NM_019108 CCDS33043 Q9H0W8 "11230166|19417104" MGI:1919247 RGD:1309888 613176 471118 HGNC:25763 "ENST00000270066.11|NM_019108.4" HGNC:25763 @@ -36044,9 +36047,9 @@ HGNC:41492 SMIM2-IT1 SMIM2 intronic transcript 1 non-coding RNA RNA, long non-co HGNC:30248 SMIM3 small integral membrane protein 3 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "MSTP150|NID67" C5orf62 chromosome 5 open reading frame 62 2009-10-02 2012-10-01 2012-10-01 2023-01-20 85027 ENSG00000256235 OTTHUMG00000163646 uc003lsw.4 AF313413 NM_032947 CCDS47312 Q9BZL3 11288140 MGI:1917088 RGD:628864 608324 HGNC:30248 "ENST00000526627.2|NM_032947.5" HGNC:40030 SMIM5 small integral membrane protein 5 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 C17orf109 chromosome 17 open reading frame 109 2011-05-13 2012-10-23 2012-10-23 2023-01-20 643008 ENSG00000204323 OTTHUMG00000167882 uc002jow.3 NM_001162995 CCDS54165 Q71RC9 24318988 MGI:1913778 RGD:1586374 HGNC:40030 "ENST00000375215.3|NM_001162995.3" HGNC:40032 SMIM6 small integral membrane protein 6 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 ELN endoregulin C17orf110 chromosome 17 open reading frame 110 2011-06-21 2012-10-23 2012-10-23 2023-01-20 100130933 ENSG00000259120 OTTHUMG00000179796 uc060kah.1 NM_001162997 CCDS54166 P0DI80 MGI:1915778 RGD:7720946 HGNC:40032 "ENST00000579469.2|NM_001162997.2" -HGNC:28419 SMIM7 small integral membrane protein 7 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MGC2747 C19orf42 chromosome 19 open reading frame 42 2006-04-04 2012-10-26 2012-10-26 2023-01-20 79086 ENSG00000214046 OTTHUMG00000149895 uc002ner.4 AK025602 NM_024104 "CCDS74307|CCDS12348" Q9BQ49 12477932 MGI:1914068 RGD:1588793 HGNC:28419 "ENST00000487416.7|NM_024104.4" +HGNC:28419 SMIM7 small integral membrane protein 7 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MGC2747 C19orf42 chromosome 19 open reading frame 42 2006-04-04 2012-10-26 2012-10-26 2023-01-20 79086 ENSG00000214046 OTTHUMG00000149895 uc002ner.4 AK025602 NM_024104 "CCDS12348|CCDS74307" Q9BQ49 12477932 MGI:1914068 RGD:1588793 HGNC:28419 "ENST00000487416.7|NM_024104.4" HGNC:54700 SMIM7P1 SMIM7 pseudogene 1 pseudogene pseudogene Approved 2p22.3 02p22.3 2019-11-28 2019-11-28 100130842 ENSG00000196085 NG_030137 -HGNC:21401 SMIM8 small integral membrane protein 8 protein-coding gene gene with protein product Approved 6q15 06q15 "DKFZP586E1923|dJ102H19.2" C6orf162 chromosome 6 open reading frame 162 2003-06-12 2012-11-20 2012-11-20 2023-01-20 57150 ENSG00000111850 OTTHUMG00000015168 uc003plp.2 AL050201 NM_020425 "CCDS75493|CCDS34496" Q96KF7 MGI:1913541 RGD:1305158 HGNC:21401 "ENST00000392863.6|NM_001042493.3" +HGNC:21401 SMIM8 small integral membrane protein 8 protein-coding gene gene with protein product Approved 6q15 06q15 "DKFZP586E1923|dJ102H19.2" C6orf162 chromosome 6 open reading frame 162 2003-06-12 2012-11-20 2012-11-20 2023-01-20 57150 ENSG00000111850 OTTHUMG00000015168 uc003plp.2 AL050201 NM_020425 "CCDS34496|CCDS75493" Q96KF7 MGI:1913541 RGD:1305158 HGNC:21401 "ENST00000392863.6|NM_001042493.3" HGNC:41915 SMIM9 small integral membrane protein 9 protein-coding gene gene with protein product Approved Xq28 Xq28 CXorf68 chromosome X open reading frame 68 2011-08-04 2012-11-29 2012-11-29 2023-01-20 100132963 ENSG00000203870 OTTHUMG00000024243 uc065cja.1 NM_001162936 CCDS55546 A6NGZ8 MGI:3588243 HGNC:41915 "ENST00000369529.2|NM_001162936.4" HGNC:41913 SMIM10 small integral membrane protein 10 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 CXorf69 chromosome X open reading frame 69 2011-08-15 2012-11-29 2012-11-29 2023-01-20 644538 ENSG00000184785 OTTHUMG00000187484 uc011mvs.2 NM_001163438 CCDS55502 Q96HG1 MGI:1914379 RGD:1585506 HGNC:41913 "ENST00000330288.6|NM_001163438.2" HGNC:49847 SMIM10L1 small integral membrane protein 10 like 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 2015-03-06 2015-03-06 2023-01-20 100129361 ENSG00000256537 OTTHUMG00000168565 NM_001271592 CCDS81667 P0DMW3 MGI:1914379 RGD:2322729 PGOHUM00000262876 HGNC:49847 "ENST00000622602.2|NM_001271592.2" @@ -36068,12 +36071,12 @@ HGNC:54941 SMIM15P2 SMIM15 pseudogene 2 pseudogene pseudogene Approved 6p22.1 06 HGNC:27114 SMIM17 small integral membrane protein 17 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 2012-12-11 2023-01-20 147670 ENSG00000268182 OTTHUMG00000177861 uc021vch.2 AK095199 NM_001193628 CCDS58683 P0DL12 MGI:4365374 RGD:1559613 HGNC:27114 "ENST00000598409.6|NM_001193628.2" HGNC:42973 SMIM18 small integral membrane protein 18 protein-coding gene gene with protein product Approved 8p12 08p12 2012-12-12 2023-01-20 100507341 ENSG00000253457 OTTHUMG00000163839 uc022atn.2 NM_001206847 CCDS56529 P0DKX4 MGI:1919882 RGD:6501537 HGNC:42973 "ENST00000517349.2|NM_001206847.2" HGNC:25166 SMIM19 small integral membrane protein 19 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 C8orf40 chromosome 8 open reading frame 40 2005-07-27 2013-03-08 2013-03-08 2023-01-20 114926 ENSG00000176209 OTTHUMG00000157060 uc011lcv.3 BC013035 NM_138436 CCDS6133 Q96E16 12477932 MGI:2142501 RGD:2318364 HGNC:25166 "ENST00000417410.7|NM_001135674.2" -HGNC:37260 SMIM20 small integral membrane protein 20 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "PNX|MITRAC7" phoenixin C4orf52 chromosome 4 open reading frame 52 Mitochondrial respiratory chain complex assembly factors 645 2009-09-15 2013-03-08 2013-03-08 2023-01-20 389203 ENSG00000250317 OTTHUMG00000160330 uc003grw.5 NM_001145432 "CCDS93489|CCDS47038" Q8N5G0 "28176660|26321642" MGI:1913528 RGD:1565192 617465 HGNC:37260 "ENST00000506197.3|NM_001145432.3" +HGNC:37260 SMIM20 small integral membrane protein 20 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "PNX|MITRAC7" phoenixin C4orf52 chromosome 4 open reading frame 52 Mitochondrial respiratory chain complex assembly factors 645 2009-09-15 2013-03-08 2013-03-08 2023-01-20 389203 ENSG00000250317 OTTHUMG00000160330 uc003grw.5 NM_001145432 "CCDS47038|CCDS93489" Q8N5G0 "28176660|26321642" MGI:1913528 RGD:1565192 617465 HGNC:37260 "ENST00000506197.3|NM_001145432.3" HGNC:27598 SMIM21 small integral membrane protein 21 protein-coding gene gene with protein product Approved 18q23 18q23 C18orf62 chromosome 18 open reading frame 62 2007-11-19 2013-03-11 2013-03-11 2023-01-20 284274 ENSG00000206026 OTTHUMG00000179126 uc002lma.2 NM_001037331 "CCDS32845|CCDS77200" Q3B7S5 HGNC:27598 "ENST00000579022.5|NM_001037331.3" HGNC:48329 SMIM22 small integral membrane protein 22 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 CASIMO1 cancer associated small integral membrane open reading frame 1 2013-06-21 2013-06-21 2023-01-20 440335 ENSG00000267795 OTTHUMG00000177849 NM_001253790 "CCDS59259|CCDS59258" K7EJ46 29765154 MGI:3643379 RGD:1563547 HGNC:48329 "ENST00000586005.6|NM_001253794.2" HGNC:34440 SMIM23 small integral membrane protein 23 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 LOC644994 C5orf50 chromosome 5 open reading frame 50 2008-07-14 2013-12-13 2013-12-13 2023-01-20 644994 ENSG00000185662 OTTHUMG00000163266 NM_001289970 CCDS87347 A6NLE4 23028347 MGI:1916601 RGD:1306625 HGNC:34440 "ENST00000523047.4|NM_001289970.2" HGNC:37244 SMIM24 small integral membrane protein 24 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 HSPC323 C19orf77 chromosome 19 open reading frame 77 2009-09-30 2014-02-21 2014-02-21 2023-01-20 284422 ENSG00000095932 OTTHUMG00000180761 AF161441 NM_001136503 CCDS45915 O75264 MGI:1919523 RGD:2324237 HGNC:37244 "ENST00000215531.6|NM_001136503.2" -HGNC:43430 SMIM26 small integral membrane protein 26 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 LOC388789 LINC00493 long intergenic non-protein coding RNA 493 2011-10-20 2017-02-24 2017-02-24 2023-01-20 388789 ENSG00000232388 OTTHUMG00000031978 uc002wrd.5 NM_001348957 "CCDS86936|CCDS86937" A0A096LP01 25392693 MGI:2685407 RGD:1566320 HGNC:43430 "ENST00000411646.2|NM_001348957.2" +HGNC:43430 SMIM26 small integral membrane protein 26 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 LOC388789 LINC00493 long intergenic non-protein coding RNA 493 2011-10-20 2017-02-24 2017-02-24 2023-01-20 388789 ENSG00000232388 OTTHUMG00000031978 uc002wrd.5 NM_001348957 "CCDS86937|CCDS86936" A0A096LP01 25392693 MGI:2685407 RGD:1566320 HGNC:43430 "ENST00000411646.2|NM_001348957.2" HGNC:31420 SMIM27 small integral membrane protein 27 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "C9orf133|TOPORS-AS1" "chromosome 9 open reading frame 133|TOPORS antisense RNA 1 (non-protein coding)|TOPORS antisense RNA 1" 2005-03-22 2017-03-10 2017-03-10 2023-03-14 100129250 ENSG00000235453 OTTHUMG00000019742 uc031tdl.2 NM_001349118 CCDS87647 A0A1B0GUW7 32139545 MGI:1913684 RGD:7573721 HGNC:31420 "ENST00000692500.1|NM_001387564.1" HGNC:53434 SMIM28 small integral membrane protein 28 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 2017-04-05 2017-04-05 110806279 ENSG00000262543 OTTHUMG00000172823 NM_001368163 A0A1B0GU29 HGNC:53434 "ENST00000573100.2|NM_001368163.3" HGNC:1340 SMIM29 small integral membrane protein 29 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "LBH|MGC57858" C6orf1 chromosome 6 open reading frame 1 1998-12-01 2017-04-07 2017-04-07 2023-03-15 221491 ENSG00000186577 OTTHUMG00000159754 uc003ojg.5 AY062936 NM_001008703 "CCDS93896|CCDS4790" Q86T20 10036196 MGI:2146839 RGD:1564450 611419 HGNC:1340 "ENST00000476320.6|NM_001008703.4" @@ -36096,40 +36099,40 @@ HGNC:56307 SMIM46 small integral membrane protein 46 protein-coding gene gene wi HGNC:53452 SMIM47 small integral membrane protein 47 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 2022-09-16 2023-01-20 105372440 ENSG00000261341 OTTHUMG00000176604 NM_001384597 CCDS92672 D0EPY3 RGD:9421087 HGNC:43561 SMKR1 small lysine rich protein 1 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 2012-12-11 2016-06-06 2023-01-20 100287482 ENSG00000240204 OTTHUMG00000157696 uc003voy.3 "BC035417|BC050400" NM_001195243 CCDS59077 H3BMG3 RGD:9298384 HGNC:43561 "ENST00000462322.3|NM_001195243.2" HGNC:44670 SMLR1 small leucine rich protein 1 protein-coding gene gene with protein product Approved 6q23.1 06q23.1 2012-12-12 2016-06-06 2023-01-20 100507203 ENSG00000256162 OTTHUMG00000176259 uc011ebx.3 AK091900 NM_001195597 CCDS59036 H3BR10 MGI:1922856 RGD:1586664 HGNC:44670 "ENST00000541421.2|NM_001195597.2" -HGNC:11117 SMN1 survival of motor neuron 1, telomeric protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "BCD541|SMNT|SMA1|SMA2|SMA3|GEMIN1|TDRD16A" "gemin-1|tudor domain containing 16A" "SMA@|SMA" spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease) "Tudor domain containing|SMN complex" "780|1500" 1996-12-12 2023-01-20 6606 ENSG00000172062 OTTHUMG00000099361 uc003kak.4 U18423 NM_000344 "CCDS34181|CCDS75256|CCDS34182" Q16637 7813012 MGI:109257 RGD:620755 "SMN1 - Spinal Muscular Atrophy (SMA)|http://www.LOVD.nl/SMN1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SMN1|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_676|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_676.xml" 600354 133452 HGNC:11117 "ENST00000380707.9|NM_000344.4" HGNC:11117 -HGNC:11118 SMN2 survival of motor neuron 2, centromeric protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "BCD541|SMNC|GEMIN1|TDRD16B" tudor domain containing 16B "Tudor domain containing|SMN complex" "780|1500" 1996-12-12 2023-01-20 6607 ENSG00000205571 OTTHUMG00000099389 uc003jyd.4 NM_017411 "CCDS4007|CCDS4008|CCDS54867" Q16637 7813012 MGI:109257 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_677|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_677.xml" 601627 119750 HGNC:11118 "ENST00000380743.9|NM_017411.4" +HGNC:11117 SMN1 survival of motor neuron 1, telomeric protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "BCD541|SMNT|SMA1|SMA2|SMA3|GEMIN1|TDRD16A" "gemin-1|tudor domain containing 16A" "SMA@|SMA" spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease) "Tudor domain containing|SMN complex" "780|1500" 1996-12-12 2023-01-20 6606 ENSG00000172062 OTTHUMG00000099361 uc003kak.4 U18423 NM_000344 "CCDS75256|CCDS34182|CCDS34181" Q16637 7813012 MGI:109257 RGD:620755 "SMN1 - Spinal Muscular Atrophy (SMA)|http://www.LOVD.nl/SMN1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SMN1|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_676|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_676.xml" 600354 133452 HGNC:11117 "ENST00000380707.9|NM_000344.4" HGNC:11117 +HGNC:11118 SMN2 survival of motor neuron 2, centromeric protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "BCD541|SMNC|GEMIN1|TDRD16B" tudor domain containing 16B "Tudor domain containing|SMN complex" "780|1500" 1996-12-12 2023-01-20 6607 ENSG00000205571 OTTHUMG00000099389 uc003jyd.4 NM_017411 "CCDS54867|CCDS4007|CCDS4008" Q16637 7813012 MGI:109257 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_677|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_677.xml" 601627 119750 HGNC:11118 "ENST00000380743.9|NM_017411.4" HGNC:16900 SMNDC1 survival motor neuron domain containing 1 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "SPF30|SMNR|TDRD16C" "splicing factor 30, survival of motor neuron-related|tudor domain containing 16C" "Tudor domain containing|Spliceosomal A complex" "780|1504" 2003-11-06 2023-01-20 10285 ENSG00000119953 OTTHUMG00000019036 uc001kzc.5 AF083385 NM_005871 CCDS7565 O75940 "9731529|9817934" MGI:1923729 RGD:1309151 603519 HGNC:16900 "ENST00000369603.10|NM_005871.4" HGNC:11119 SMO smoothened, frizzled class receptor protein-coding gene gene with protein product Approved 7q32.1 07q32.1 FZD11 frizzled family member 11 SMOH "smoothened (Drosophila) homolog|smoothened homolog (Drosophila)|smoothened, seven transmembrane spanning receptor|smoothened, frizzled family receptor" G protein-coupled receptors, Class F frizzled 286 1996-12-18 2003-01-17 2014-01-29 2023-01-20 6608 ENSG00000128602 OTTHUMG00000158421 uc003vor.4 U84401 NM_005631 CCDS5811 Q99835 9628830 MGI:108075 RGD:3726 LRG_1393|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1393.xml SMO 601500 461367 objectId:239 HGNC:11119 "ENST00000249373.8|NM_005631.5" HGNC:11119 -HGNC:20318 SMOC1 SPARC related modular calcium binding 1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 SPARC family 1278 2003-01-24 2023-01-20 64093 ENSG00000198732 OTTHUMG00000171237 uc001xls.3 AJ249900 NM_001034852 "CCDS32110|CCDS9798" Q9H4F8 12130637 MGI:1929878 RGD:1303126 608488 258631 HGNC:20318 "ENST00000361956.8|NM_001034852.3" HGNC:20318 -HGNC:20323 SMOC2 SPARC related modular calcium binding 2 protein-coding gene gene with protein product Approved 6q27 06q27 SMAP2 SPARC family 1278 2003-01-24 2023-01-20 64094 ENSG00000112562 OTTHUMG00000016050 uc003qwr.2 AB014730 NM_001166412 "CCDS5307|CCDS55076" Q9H3U7 12031507 MGI:1929881 RGD:1306681 607223 303024 HGNC:20323 "ENST00000356284.7|NM_001166412.2" HGNC:20323 -HGNC:15862 SMOX spermine oxidase protein-coding gene gene with protein product Approved 20p13 20p13 "FLJ20746|dJ779E11.1|PAO|PAOh1|MGC1010|SMO" C20orf16 chromosome 20 open reading frame 16 2001-06-21 2003-10-15 2003-10-15 2023-01-20 54498 ENSG00000088826 OTTHUMG00000031777 uc002wkm.2 AK000753 NM_175842 "CCDS13078|CCDS13075|CCDS13076|CCDS13077|CCDS74702" Q9NWM0 "11454677|12398765" MGI:2445356 RGD:1306049 615854 1.5.3.16 HGNC:15862 "ENST00000305958.9|NM_175839.3" -HGNC:11120 SMPD1 sphingomyelin phosphodiesterase 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 ASM "acid sphingomyelinase|Niemann-Pick type A/B" sphingomyelin phosphodiesterase 1, acid lysosomal 1986-01-01 2015-12-10 2023-01-20 6609 ENSG00000166311 OTTHUMG00000165453 uc009yew.4 AB209775 NM_000543 "CCDS31409|CCDS44531" P17405 1711683 MGI:98325 RGD:1549719 607608 119754 objectId:2514 3.1.4.12 HGNC:11120 "ENST00000342245.9|NM_000543.5" HGNC:11120 +HGNC:20318 SMOC1 SPARC related modular calcium binding 1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 SPARC family 1278 2003-01-24 2023-01-20 64093 ENSG00000198732 OTTHUMG00000171237 uc001xls.3 AJ249900 NM_001034852 "CCDS9798|CCDS32110" Q9H4F8 12130637 MGI:1929878 RGD:1303126 608488 258631 HGNC:20318 "ENST00000361956.8|NM_001034852.3" HGNC:20318 +HGNC:20323 SMOC2 SPARC related modular calcium binding 2 protein-coding gene gene with protein product Approved 6q27 06q27 SMAP2 SPARC family 1278 2003-01-24 2023-01-20 64094 ENSG00000112562 OTTHUMG00000016050 uc003qwr.2 AB014730 NM_001166412 "CCDS55076|CCDS5307" Q9H3U7 12031507 MGI:1929881 RGD:1306681 607223 303024 HGNC:20323 "ENST00000356284.7|NM_001166412.2" HGNC:20323 +HGNC:15862 SMOX spermine oxidase protein-coding gene gene with protein product Approved 20p13 20p13 "FLJ20746|dJ779E11.1|PAO|PAOh1|MGC1010|SMO" C20orf16 chromosome 20 open reading frame 16 2001-06-21 2003-10-15 2003-10-15 2023-01-20 54498 ENSG00000088826 OTTHUMG00000031777 uc002wkm.2 AK000753 NM_175842 "CCDS13078|CCDS13076|CCDS74702|CCDS13077|CCDS13075" Q9NWM0 "11454677|12398765" MGI:2445356 RGD:1306049 615854 1.5.3.16 HGNC:15862 "ENST00000305958.9|NM_175839.3" +HGNC:11120 SMPD1 sphingomyelin phosphodiesterase 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 ASM "acid sphingomyelinase|Niemann-Pick type A/B" sphingomyelin phosphodiesterase 1, acid lysosomal 1986-01-01 2015-12-10 2023-01-20 6609 ENSG00000166311 OTTHUMG00000165453 uc009yew.4 AB209775 NM_000543 "CCDS44531|CCDS31409" P17405 1711683 MGI:98325 RGD:1549719 607608 119754 objectId:2514 3.1.4.12 HGNC:11120 "ENST00000342245.9|NM_000543.5" HGNC:11120 HGNC:11121 SMPD2 sphingomyelin phosphodiesterase 2 protein-coding gene gene with protein product Approved 6q21 06q21 "nSMase|ISC1" neutral sphingomyelinase sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 1998-06-22 2015-12-10 2023-01-20 6610 ENSG00000135587 OTTHUMG00000015348 uc003pti.4 AJ222801 NM_003080 CCDS5075 O60906 9520418 MGI:1278330 RGD:619753 603498 objectId:2515 3.1.4.12 HGNC:11121 "ENST00000258052.8|NM_003080.3" HGNC:14240 SMPD3 sphingomyelin phosphodiesterase 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 NSMASE2 neutral sphingomyelinase II sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 2000-12-12 2015-12-10 2023-01-20 55512 ENSG00000103056 OTTHUMG00000137559 uc002ewa.4 AJ250460 NM_018667 CCDS10867 Q9NY59 10823942 MGI:1927578 RGD:619754 605777 objectId:2516 HGNC:14240 "ENST00000219334.10|NM_018667.4" -HGNC:32949 SMPD4 sphingomyelin phosphodiesterase 4 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "FLJ20297|FLJ20756|nSMase-3|KIAA1418|NSMASE3|NET13" neutral sphingomyelinase-3 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 2006-07-12 2015-12-10 2023-01-20 55627 ENSG00000136699 OTTHUMG00000131624 uc002tqq.3 AF052134 NM_017751 "CCDS42751|CCDS2156|CCDS54398" Q9NXE4 16517606 MGI:1924876 RGD:1310674 610457 objectId:2517 HGNC:32949 "ENST00000680298.1|NM_017951.5" HGNC:32949 +HGNC:32949 SMPD4 sphingomyelin phosphodiesterase 4 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "FLJ20297|FLJ20756|nSMase-3|KIAA1418|NSMASE3|NET13" neutral sphingomyelinase-3 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 2006-07-12 2015-12-10 2023-01-20 55627 ENSG00000136699 OTTHUMG00000131624 uc002tqq.3 AF052134 NM_017751 "CCDS42751|CCDS54398|CCDS2156" Q9NXE4 16517606 MGI:1924876 RGD:1310674 610457 objectId:2517 HGNC:32949 "ENST00000680298.1|NM_017951.5" HGNC:32949 HGNC:24761 SMPD4BP sphingomyelin phosphodiesterase 4B, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 2019-10-11 2019-10-11 150776 ENSG00000152117 NR_026922 HGNC:24761 HGNC:39673 SMPD4P1 sphingomyelin phosphodiesterase 4 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1 2011-03-22 2015-12-10 2019-10-11 645280 ENSG00000223553 OTTHUMG00000030245 NG_028286 PGOHUM00000246243 HGNC:39673 HGNC:39674 SMPD4P2 sphingomyelin phosphodiesterase 4 pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 2 2011-03-22 2015-12-10 2019-10-11 441654 ENSG00000229147 OTTHUMG00000016483 NG_011395 PGOHUM00000248303 HGNC:39674 HGNC:52275 SMPD5 sphingomyelin phosphodiesterase 5 (pseudogene) pseudogene pseudogene Approved 8q24.3 08q24.3 MA-nSMase mitochondria-associated nSMase "sphingomyelin phosphodiesterase 5|sphingomyelin phosphodiesterase 5, pseudogene" 2015-12-10 2020-06-15 2020-06-15 392275 ENSG00000204791 OTTHUMG00000165434 NR_158554 23579449 MGI:3709877 RGD:2323312 PGOHUM00000303698 HGNC:52275 -HGNC:17389 SMPDL3A sphingomyelin phosphodiesterase acid like 3A protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "FLJ20177|ASM3A|ASML3a|yR36GH4.1" acid sphingomyelinase-like phosphodiesterase 3a sphingomyelin phosphodiesterase acid-like 3A 2003-11-26 2016-01-25 2023-01-20 10924 ENSG00000172594 OTTHUMG00000015490 uc003pzg.5 AK000184 NM_006714 "CCDS69190|CCDS5128" Q92484 "12442002|25288789" MGI:1931437 RGD:1359277 610728 objectId:2518 HGNC:17389 "ENST00000368440.5|NM_006714.5" +HGNC:17389 SMPDL3A sphingomyelin phosphodiesterase acid like 3A protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "FLJ20177|ASM3A|ASML3a|yR36GH4.1" acid sphingomyelinase-like phosphodiesterase 3a sphingomyelin phosphodiesterase acid-like 3A 2003-11-26 2016-01-25 2023-01-20 10924 ENSG00000172594 OTTHUMG00000015490 uc003pzg.5 AK000184 NM_006714 "CCDS5128|CCDS69190" Q92484 "12442002|25288789" MGI:1931437 RGD:1359277 610728 objectId:2518 HGNC:17389 "ENST00000368440.5|NM_006714.5" HGNC:21416 SMPDL3B sphingomyelin phosphodiesterase acid like 3B protein-coding gene gene with protein product Approved 1p35.3 01p35.3 ASML3B "sphingomyelin phosphodiesterase, acid-like 3B|sphingomyelin phosphodiesterase acid-like 3B" 2004-04-20 2016-01-25 2023-01-20 27293 ENSG00000130768 OTTHUMG00000003910 uc001bpg.4 Y08134 NM_014474 "CCDS30656|CCDS30655" Q92485 26095358 MGI:1916022 RGD:1307458 617737 objectId:2519 HGNC:21416 "ENST00000373894.8|NM_014474.4" HGNC:11122 SMPX small muscle protein X-linked protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "DFNX4|Chisel|Csl" DFN6 deafness, X-linked 6, sensorineural 1999-03-18 2018-04-26 2023-01-20 23676 ENSG00000091482 OTTHUMG00000021235 uc004daa.4 NM_014332 CCDS14200 Q9UHP9 21893181 MGI:1913356 RGD:69233 LRG_1358|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1358.xml 300226 268803 HGNC:11122 "ENST00000379494.4|NM_014332.3" HGNC:11122 -HGNC:19216 SMR3A submaxillary gland androgen regulated protein 3A protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "PBI|PRL5" PROL5 "proline rich 5 (salivary)|submaxillary gland androgen regulated protein 3 homolog A (mouse)" 2002-09-12 2005-02-07 2008-02-27 2023-01-20 26952 ENSG00000109208 OTTHUMG00000160839 uc003hfg.2 D89501 NM_012390 CCDS34000 Q99954 "9354371|17512016" MGI:102763 RGD:1563299 618340 HGNC:19216 "ENST00000226460.5|NM_012390.4" -HGNC:17326 SMR3B submaxillary gland androgen regulated protein 3B protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "P-B|PRL3" PROL3 "proline rich 3|submaxillary gland androgen regulated protein 3 homolog B (mouse)" 2002-01-03 2005-02-07 2008-02-27 2023-01-20 10879 ENSG00000171201 OTTHUMG00000129396 uc062xco.1 D29833 NM_006685 CCDS3540 P02814 "7982889|479131" "MGI:102762|MGI:3646267" RGD:3953 611593 HGNC:17326 "ENST00000304915.8|NM_006685.4" +HGNC:19216 SMR3A submaxillary gland androgen regulated protein 3A protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "PBI|PRL5" PROL5 "proline rich 5 (salivary)|submaxillary gland androgen regulated protein 3 homolog A (mouse)" Secretory calcium-binding phosphoprotein family 2245 2002-09-12 2005-02-07 2008-02-27 2023-01-20 26952 ENSG00000109208 OTTHUMG00000160839 uc003hfg.2 D89501 NM_012390 CCDS34000 Q99954 "9354371|17512016" MGI:102763 RGD:1563299 618340 HGNC:19216 "ENST00000226460.5|NM_012390.4" +HGNC:17326 SMR3B submaxillary gland androgen regulated protein 3B protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "P-B|PRL3" PROL3 "proline rich 3|submaxillary gland androgen regulated protein 3 homolog B (mouse)" Secretory calcium-binding phosphoprotein family 2245 2002-01-03 2005-02-07 2008-02-27 2023-01-20 10879 ENSG00000171201 OTTHUMG00000129396 uc062xco.1 D29833 NM_006685 CCDS3540 P02814 "7982889|479131" "MGI:102762|MGI:3646267" RGD:3953 611593 HGNC:17326 "ENST00000304915.8|NM_006685.4" HGNC:11123 SMS spermine synthase protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "SPMSY|SpS|MRSR" SRS Snyder-Robinson X-linked mental retardation syndrome Seven-beta-strand methyltransferase motif containing 1400 1997-11-07 2023-01-20 6611 ENSG00000102172 OTTHUMG00000021239 uc004dag.5 AD001528 NM_004595 "CCDS14203|CCDS59161" P52788 "7546290|9299240|14508504" MGI:109490 RGD:1564826 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMS 300105 138543 HGNC:11123 "ENST00000404933.7|NM_004595.5" HGNC:11123 HGNC:54952 SMSP1 SMS pseudogene 1 pseudogene pseudogene Approved Xp11.23 Xp11.23 2020-05-01 2020-05-01 100419053 ENSG00000224656 NG_026691 -HGNC:11126 SMTN smoothelin protein-coding gene gene with protein product Approved 22q12.2 22q12.2 1997-02-03 2023-01-20 6525 ENSG00000183963 OTTHUMG00000151203 uc011ale.3 AY061972 NM_134270 "CCDS74846|CCDS13888|CCDS74845|CCDS13886|CCDS13887" P53814 "9244445|8707825" MGI:1354727 RGD:1310216 602127 HGNC:11126 "ENST00000333137.12|NM_134269.3" +HGNC:11126 SMTN smoothelin protein-coding gene gene with protein product Approved 22q12.2 22q12.2 1997-02-03 2023-01-20 6525 ENSG00000183963 OTTHUMG00000151203 uc011ale.3 AY061972 NM_134270 "CCDS13886|CCDS74845|CCDS74846|CCDS13887|CCDS13888" P53814 "9244445|8707825" MGI:1354727 RGD:1310216 602127 HGNC:11126 "ENST00000333137.12|NM_134269.3" HGNC:32394 SMTNL1 smoothelin like 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 CHASM calponin homology-associated smooth muscle protein 2006-02-02 2016-06-03 2023-01-20 219537 ENSG00000214872 OTTHUMG00000167046 uc021qjh.1 BX116227 NM_001105565 CCDS44599 A8MU46 15327999 MGI:1915928 RGD:1311701 613664 HGNC:32394 "ENST00000527972.6|NM_001105565.3" HGNC:24764 SMTNL2 smoothelin like 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 FLJ42461 smoothelin-like 2 2006-04-26 2016-04-04 2023-01-20 342527 ENSG00000188176 OTTHUMG00000132938 uc002fye.3 AK124452 NM_198501 "CCDS45583|CCDS11048" Q2TAL5 MGI:2442764 RGD:1585960 HGNC:24764 "ENST00000389313.9|NM_001114974.2" HGNC:18247 SMU1 SMU1 DNA replication regulator and spliceosomal factor protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "SMU-1|FLJ10805|BWD|fSAP57" functional spliceosome-associated protein 57 "smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)|DNA replication regulator and spliceosomal factor|SMU1, DNA replication regulator and spliceosomal factor" "WD repeat domain containing|Spliceosomal B complex" "362|1507" 2004-05-17 2019-01-25 2023-01-20 55234 ENSG00000122692 OTTHUMG00000019757 uc003zsf.2 AK001667 NM_018225 CCDS6534 Q2TAY7 "11438655|11410362" MGI:1915546 RGD:620694 617811 HGNC:18247 "ENST00000397149.4|NM_018225.3" HGNC:54527 SMU1P1 SMU1 pseudogene 1 pseudogene pseudogene Approved 1q23.1 01q23.1 2019-10-11 2019-10-11 246784 ENSG00000237842 NG_001588 HGNC:54527 -HGNC:17148 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "UNG3|FDG|HMUDG" DNA glycosylases 1024 2006-01-06 2023-01-20 23583 ENSG00000123415 OTTHUMG00000160068 uc009znf.3 AF125182 NM_014311 "CCDS86305|CCDS58239|CCDS8874" Q53HV7 "10074426|11526119" MGI:1918976 RGD:631403 607753 HGNC:17148 "ENST00000682136.1|NM_001243787.2" +HGNC:17148 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "UNG3|FDG|HMUDG" DNA glycosylases 1024 2006-01-06 2023-01-20 23583 ENSG00000123415 OTTHUMG00000160068 uc009znf.3 AF125182 NM_014311 "CCDS58239|CCDS8874|CCDS86305" Q53HV7 "10074426|11526119" MGI:1918976 RGD:631403 607753 HGNC:17148 "ENST00000682136.1|NM_001243787.2" HGNC:53307 SMUG1-AS1 SMUG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Antisense RNAs 1987 2017-03-22 2017-03-22 105369776 ENSG00000283073 OTTHUMG00000191576 XR_007063321 HGNC:53307 HGNC:49401 SMUG1P1 single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1 pseudogene pseudogene Approved 18q21.1 18q21.1 2013-10-28 2014-09-11 100129143 ENSG00000267444 OTTHUMG00000179820 NG_022491 PGOHUM00000235055 HGNC:49401 -HGNC:16807 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 KIAA1625 HECT domain containing 1959 2004-07-29 2023-01-20 57154 ENSG00000198742 OTTHUMG00000150272 uc003upv.3 AB046845 NM_020429 "CCDS34690|CCDS34689" Q9HCE7 10458166 MGI:1923038 RGD:1594738 605568 HGNC:16807 "ENST00000361368.7|NM_181349.3" +HGNC:16807 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 KIAA1625 HECT domain containing 1959 2004-07-29 2023-01-20 57154 ENSG00000198742 OTTHUMG00000150272 uc003upv.3 AB046845 NM_020429 "CCDS34689|CCDS34690" Q9HCE7 10458166 MGI:1923038 RGD:1594738 605568 HGNC:16807 "ENST00000361368.7|NM_181349.3" HGNC:16809 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 17q23.3-q24.1 17q23.3-q24.1 "C2 domain containing|HECT domain containing" "823|1959" 2004-07-29 2023-01-20 64750 ENSG00000108854 OTTHUMG00000179189 uc002jep.2 AF301463 NM_022739 CCDS32707 Q9HAU4 11016919 MGI:1913563 RGD:1310067 605532 HGNC:16809 "ENST00000262435.14|NM_022739.4" HGNC:44402 SMURF2P1 SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 2012-10-05 2014-10-06 107133516 ENSG00000248121 OTTHUMG00000132798 NG_046673 PGOHUM00000294381 HGNC:44402 -HGNC:20986 SMYD1 SET and MYND domain containing 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "BOP|ZMYND22|KMT3D" "Zinc fingers MYND-type|Lysine methyltransferases|SET domain containing" "87|487|1399" 2003-04-29 2023-01-20 150572 ENSG00000115593 OTTHUMG00000155045 uc002ssr.4 AF086123 NM_001330364 "CCDS82480|CCDS33240" Q8NB12 11923873 MGI:104790 RGD:1305105 606846 HGNC:20986 "ENST00000419482.7|NM_198274.4" HGNC:20986 +HGNC:20986 SMYD1 SET and MYND domain containing 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "BOP|ZMYND22|KMT3D" "Zinc fingers MYND-type|Lysine methyltransferases|SET domain containing" "87|487|1399" 2003-04-29 2023-01-20 150572 ENSG00000115593 OTTHUMG00000155045 uc002ssr.4 AF086123 NM_001330364 "CCDS33240|CCDS82480" Q8NB12 11923873 MGI:104790 RGD:1305105 606846 HGNC:20986 "ENST00000419482.7|NM_198274.4" HGNC:20986 HGNC:20982 SMYD2 SET and MYND domain containing 2 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "HSKM-B|ZMYND14|KMT3C" "Zinc fingers MYND-type|Lysine methyltransferases|SET domain containing" "87|487|1399" 2003-04-28 2023-01-20 56950 ENSG00000143499 OTTHUMG00000037066 uc057pjy.1 AF226053 NM_020197 CCDS31022 Q9NRG4 MGI:1915889 RGD:727785 610663 objectId:2714 HGNC:20982 "ENST00000366957.10|NM_020197.3" HGNC:15513 SMYD3 SET and MYND domain containing 3 protein-coding gene gene with protein product Approved 1q44 01q44 KMT3E "ZNFN3A1|ZMYND1" zinc finger, MYND domain containing 1 "Zinc fingers MYND-type|Lysine methyltransferases|SET domain containing" "87|487|1399" 2001-04-06 2003-05-16 2003-05-14 2023-01-20 64754 ENSG00000185420 OTTHUMG00000040508 uc001ibl.4 AK023594 NM_022743 "CCDS53486|CCDS31083" Q9H7B4 MGI:1916976 RGD:1562635 608783 HGNC:15513 "ENST00000490107.6|NM_001167740.2" HGNC:40708 SMYD3-AS1 SMYD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q44 01q44 Antisense RNAs 1987 2020-03-27 2020-03-27 101928089 ENSG00000226876 OTTHUMG00000040511 NR_183265 @@ -36143,17 +36146,17 @@ HGNC:18411 SNAI3 snail family transcriptional repressor 3 protein-coding gene ge HGNC:28327 SNAI3-AS1 SNAI3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 MGC23284 Antisense RNAs 1987 2012-11-06 2016-10-05 197187 ENSG00000260630 OTTHUMG00000173242 uc002fli.6 NR_024399 12477932 SNAI3-AS1 HGNC:28327 HGNC:11131 SNAP23 synaptosome associated protein 23 protein-coding gene gene with protein product Approved 15q15.1-q15.2 15q15.1-q15.2 "SNAP23A|SNAP23B|HsT17016" synaptosomal-associated protein, 23kDa SNAREs 1124 1998-12-17 2016-06-01 2023-01-20 8773 ENSG00000092531 OTTHUMG00000130625 uc001zpz.3 Y09567 NM_003825 "CCDS10087|CCDS10088" O00161 "9070898|8663154" MGI:109356 RGD:620221 602534 HGNC:11131 "ENST00000249647.8|NM_003825.4" HGNC:16561 SNAP23P1 synaptosome associated protein 23 pseudogene 1 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ155G6.3 SNAP23P synaptosomal-associated protein, 23kDa pseudogene 2001-09-17 2016-06-01 2016-06-01 2016-06-01 101290500 ENSG00000230758 OTTHUMG00000032689 AL121903 NG_033168 PGOHUM00000247557 HGNC:16561 -HGNC:11132 SNAP25 synaptosome associated protein 25 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "SNAP-25|RIC-4|RIC4|SEC9|bA416N4.2|dJ1068F16.2" resistance to inhibitors of cholinesterase 4 homolog SNAP synaptosomal-associated protein, 25kDa SNAREs 1124 1995-01-24 2016-06-01 2023-01-20 6616 ENSG00000132639 OTTHUMG00000031863 uc002wnr.3 NM_130811 "CCDS13110|CCDS13109" P60880 "8661740|10692432" MGI:98331 RGD:3728 600322 426049 HGNC:11132 "ENST00000254976.7|NM_130811.4" HGNC:11132 +HGNC:11132 SNAP25 synaptosome associated protein 25 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "SNAP-25|RIC-4|RIC4|SEC9|bA416N4.2|dJ1068F16.2" resistance to inhibitors of cholinesterase 4 homolog SNAP synaptosomal-associated protein, 25kDa SNAREs 1124 1995-01-24 2016-06-01 2023-01-20 6616 ENSG00000132639 OTTHUMG00000031863 uc002wnr.3 NM_130811 "CCDS13109|CCDS13110" P60880 "8661740|10692432" MGI:98331 RGD:3728 600322 426049 HGNC:11132 "ENST00000254976.7|NM_130811.4" HGNC:11132 HGNC:44312 SNAP25-AS1 SNAP25 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 SNAP25 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-09 2012-08-15 2012-10-12 100131208 ENSG00000227906 OTTHUMG00000031867 uc061vjg.1 "AK124961|BF244758|DA318406" NR_040710 SNAP25-AS1 HGNC:44312 HGNC:11133 SNAP29 synaptosome associated protein 29 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "SNAP-29|CEDNIK" "soluble 29 kDa NSF attachment protein|cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" synaptosomal-associated protein, 29kDa SNAREs 1124 1998-12-17 2016-06-01 2023-01-20 9342 ENSG00000099940 OTTHUMG00000150765 uc011ahw.3 AF115436 NM_004782 CCDS13784 O95721 "9852078|10591208" MGI:1914724 RGD:620225 604202 119761 HGNC:11133 "ENST00000215730.12|NM_004782.4" HGNC:11133 HGNC:30669 SNAP47 synaptosome associated protein 47 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "SVAP1|SNAP-47" C1orf142 "chromosome 1 open reading frame 142|synaptosomal-associated protein, 47kDa" 2005-07-08 2008-10-27 2016-06-01 2023-01-20 116841 ENSG00000143740 OTTHUMG00000037697 uc001hrf.2 AY090635 NM_053052 CCDS81429 Q5SQN1 16621800 MGI:1915076 RGD:735194 619659 HGNC:30669 "ENST00000617596.5|NM_053052.4" HGNC:41501 SNAP47-AS1 SNAP47 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 SNAP47-IT1 "SNAP47 intronic transcript 1 (non-protein coding)|SNAP47 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2011-08-10 2012-05-25 2012-08-15 2014-11-19 100885800 ENSG00000230005 OTTHUMG00000041233 uc057qas.1 AK057311 SNAP47-AS1 -HGNC:14986 SNAP91 synaptosome associated protein 91 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 "KIAA0656|AP180|CALM" synaptosomal-associated protein, 91 kDa (mouse) homolog 2001-03-27 2016-06-01 2023-01-20 9892 ENSG00000065609 OTTHUMG00000015114 uc063puv.1 AB014556 NM_001242792 "CCDS47455|CCDS87418|CCDS56437|CCDS56438" O60641 "9734811|12493563|10436022" MGI:109132 RGD:69276 607923 HGNC:14986 "ENST00000369694.7|NM_001242792.2" +HGNC:14986 SNAP91 synaptosome associated protein 91 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 "KIAA0656|AP180|CALM" synaptosomal-associated protein, 91 kDa (mouse) homolog 2001-03-27 2016-06-01 2023-01-20 9892 ENSG00000065609 OTTHUMG00000015114 uc063puv.1 AB014556 NM_001242792 "CCDS87418|CCDS47455|CCDS56437|CCDS56438" O60641 "9734811|12493563|10436022" MGI:109132 RGD:69276 607923 HGNC:14986 "ENST00000369694.7|NM_001242792.2" HGNC:11134 SNAPC1 small nuclear RNA activating complex polypeptide 1 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "SNAP43|PTFgamma" "small nuclear RNA activating complex, polypeptide 1, 43kD|small nuclear RNA activating complex, polypeptide 1, 43kDa" SNAP complex 952 1996-04-12 2015-11-09 2023-01-20 6617 ENSG00000023608 OTTHUMG00000140343 uc001xft.3 Z47542 NM_003082 CCDS9755 Q16533 9644240 MGI:1922877 RGD:1304671 600591 HGNC:11134 "ENST00000216294.5|NM_003082.4" HGNC:11135 SNAPC2 small nuclear RNA activating complex polypeptide 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "SNAP45|PTFdelta" "small nuclear RNA activating complex, polypeptide 2, 45kD|small nuclear RNA activating complex, polypeptide 2, 45kDa" SNAP complex 952 1996-04-12 2015-11-09 2023-01-20 6618 ENSG00000104976 OTTHUMG00000182456 uc002miw.3 U44898 NM_003083 CCDS12190 Q13487 8633057 MGI:1914861 RGD:1304589 605076 HGNC:11135 "ENST00000221573.11|NM_003083.4" HGNC:11136 SNAPC3 small nuclear RNA activating complex polypeptide 3 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 "SNAP50|PTFbeta|MGC33124|MGC132011" "small nuclear RNA activating complex, polypeptide 3, 50kD|small nuclear RNA activating complex, polypeptide 3, 50kDa" SNAP complex 952 1996-04-12 2015-11-09 2023-01-20 6619 ENSG00000164975 OTTHUMG00000019583 uc064sfa.1 U71300 NM_001039697 CCDS6478 Q92966 9003788 MGI:1916338 RGD:1305172 602348 HGNC:11136 "ENST00000380821.8|NM_001039697.2" HGNC:11137 SNAPC4 small nuclear RNA activating complex polypeptide 4 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "SNAP190|PTFalpha|FLJ13451" "small nuclear RNA activating complex, polypeptide 4, 190kD|small nuclear RNA activating complex, polypeptide 4, 190kDa" "Myb/SANT domain containing|SNAP complex " "532|952" 1998-02-17 2015-11-09 2023-01-20 6621 ENSG00000165684 OTTHUMG00000020929 uc004chh.4 AF032387 NM_003086 CCDS6998 Q5SXM2 9418884 MGI:2443935 RGD:1309048 602777 HGNC:11137 "ENST00000684778.1|NM_003086.4" -HGNC:15484 SNAPC5 small nuclear RNA activating complex polypeptide 5 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 SNAP19 "small nuclear RNA activating complex, polypeptide 5, 19kD|small nuclear RNA activating complex, polypeptide 5, 19kDa" "SNAP complex |MicroRNA protein coding host genes" "952|1691" 2001-04-04 2015-11-09 2023-01-20 10302 ENSG00000174446 OTTHUMG00000133195 uc002apu.2 AF093593 NM_001329613 "CCDS86469|CCDS10217" O75971 9732265 MGI:1914282 RGD:1582813 605979 HGNC:15484 "ENST00000316634.6|NM_001329615.2" +HGNC:15484 SNAPC5 small nuclear RNA activating complex polypeptide 5 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 SNAP19 "small nuclear RNA activating complex, polypeptide 5, 19kD|small nuclear RNA activating complex, polypeptide 5, 19kDa" "SNAP complex |MicroRNA protein coding host genes" "952|1691" 2001-04-04 2015-11-09 2023-01-20 10302 ENSG00000174446 OTTHUMG00000133195 uc002apu.2 AF093593 NM_001329613 "CCDS10217|CCDS86469" O75971 9732265 MGI:1914282 RGD:1582813 605979 HGNC:15484 "ENST00000316634.6|NM_001329615.2" HGNC:38667 SNAPC5P1 small nuclear RNA activating complex polypeptide 5 pseudogene 1 pseudogene pseudogene Approved 6p25.1 06p25.1 small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1 2010-07-08 2015-11-09 2015-11-09 100750245 ENSG00000241216 OTTHUMG00000014187 NG_030348 PGOHUM00000243051 HGNC:38667 HGNC:17145 SNAPIN SNAP associated protein protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "BLOC1S7|BORCS3" "snapin|SNAP-25-binding protein|biogenesis of lysosomal organelles complex-1, subunit 7|BLOC-1 related complex subunit 3" SNAPAP SNAP-associated protein "Biogenesis of lysosomal organelles complex 1 subunits|BLOC-1 related complex subunits" "452|1048" 2004-01-16 2007-11-14 2016-01-25 2023-01-20 23557 ENSG00000143553 OTTHUMG00000037086 uc001fcq.5 AF086837 NM_012437 CCDS1049 O95295 "10195194|12659861" MGI:1333745 RGD:1560377 607007 HGNC:17145 "ENST00000368685.6|NM_012437.6" HGNC:34304 SNAR-A1 small NF90 (ILF3) associated RNA A1 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 SNAR-A53113498 "small nuclear ILF3/NF90-associated RNA A1|small ILF3/NF90-associated RNA A1" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-24 100126798 EU071051 NR_004435 17855395 HGNC:34304 @@ -36184,17 +36187,17 @@ HGNC:34327 SNAR-G1 small NF90 (ILF3) associated RNA G1 non-coding RNA RNA, misc HGNC:34328 SNAR-G2 small NF90 (ILF3) associated RNA G2 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 small ILF3/NF90-associated RNA G2 Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170228 EU071075 NR_024244 17855395 HGNC:34328 HGNC:34329 SNAR-H small NF90 (ILF3) associated RNA H non-coding RNA RNA, misc Approved 2p12 02p12 snaR-2 small ILF3/NF90-associated RNA 2 small ILF3/NF90-associated RNA H Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170221 EU071076 NR_024342 17855395 HGNC:34329 HGNC:34330 SNAR-I small NF90 (ILF3) associated RNA I non-coding RNA RNA, misc Approved 3q28 03q28 snaR-3 small ILF3/NF90-associated RNA 3 small ILF3/NF90-associated RNA I Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170222 EU071077 NR_024343 17855395 HGNC:34330 -HGNC:11138 SNCA synuclein alpha protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "NACP|PD1" "non A4 component of amyloid precursor|alpha-synuclein|α-synuclein" "PARK1|PARK4" "Parkinson disease (autosomal dominant, Lewy body) 4|synuclein, alpha (non A4 component of amyloid precursor)" 1995-01-24 2015-11-13 2023-01-20 6622 ENSG00000145335 OTTHUMG00000130948 uc003hsr.4 L08850 NM_000345 "CCDS3634|CCDS43252" P37840 "8248242|14593171" MGI:1277151 RGD:3729 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SNCA 163890 119763 HGNC:11138 "ENST00000394991.8|NM_000345.4" HGNC:11138 +HGNC:11138 SNCA synuclein alpha protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "NACP|PD1" "non A4 component of amyloid precursor|alpha-synuclein|α-synuclein" "PARK1|PARK4" "Parkinson disease (autosomal dominant, Lewy body) 4|synuclein, alpha (non A4 component of amyloid precursor)" 1995-01-24 2015-11-13 2023-01-20 6622 ENSG00000145335 OTTHUMG00000130948 uc003hsr.4 L08850 NM_000345 "CCDS43252|CCDS3634" P37840 "8248242|14593171" MGI:1277151 RGD:3729 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SNCA 163890 119763 HGNC:11138 "ENST00000394991.8|NM_000345.4" HGNC:11138 HGNC:50600 SNCA-AS1 SNCA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q22.1 04q22.1 Antisense RNAs 1987 2014-05-22 2014-05-22 644248 ENSG00000247775 OTTHUMG00000161186 NR_045481 SNCA-AS1 HGNC:50600 -HGNC:11139 SNCAIP synuclein alpha interacting protein protein-coding gene gene with protein product Approved 5q23.2 05q23.2 SYPH1 synphilin Ankyrin repeat domain containing 403 1999-05-21 2015-11-13 2023-03-15 9627 ENSG00000064692 OTTHUMG00000128915 uc003ksw.2 AF167306 NM_001242935 "CCDS78054|CCDS4131" Q9Y6H5 10319874 MGI:1915097 RGD:1309283 603779 HGNC:11139 "ENST00000261368.13|NM_005460.4" -HGNC:11140 SNCB synuclein beta protein-coding gene gene with protein product Approved 5q35.2 05q35.2 β-synuclein MicroRNA protein coding host genes 1691 1995-03-03 2015-11-13 2023-01-20 6620 ENSG00000074317 OTTHUMG00000130661 uc003meq.4 AF053134 NM_001001502 "CCDS83048|CCDS4406" Q16143 "7558013|9806846" MGI:1889011 RGD:70992 602569 158439 HGNC:11140 "ENST00000393693.7|NM_003085.5" HGNC:11140 +HGNC:11139 SNCAIP synuclein alpha interacting protein protein-coding gene gene with protein product Approved 5q23.2 05q23.2 SYPH1 synphilin Ankyrin repeat domain containing 403 1999-05-21 2015-11-13 2023-03-15 9627 ENSG00000064692 OTTHUMG00000128915 uc003ksw.2 AF167306 NM_001242935 "CCDS4131|CCDS78054" Q9Y6H5 10319874 MGI:1915097 RGD:1309283 603779 HGNC:11139 "ENST00000261368.13|NM_005460.4" +HGNC:11140 SNCB synuclein beta protein-coding gene gene with protein product Approved 5q35.2 05q35.2 β-synuclein MicroRNA protein coding host genes 1691 1995-03-03 2015-11-13 2023-01-20 6620 ENSG00000074317 OTTHUMG00000130661 uc003meq.4 AF053134 NM_001001502 "CCDS4406|CCDS83048" Q16143 "7558013|9806846" MGI:1889011 RGD:70992 602569 158439 HGNC:11140 "ENST00000393693.7|NM_003085.5" HGNC:11140 HGNC:11141 SNCG synuclein gamma protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "BCSG1|SR|persyn" "synoretin|breast cancer-specific gene 1|ɣ-synuclein" 1998-04-07 2015-11-13 2023-01-20 6623 ENSG00000173267 OTTHUMG00000018656 uc001keb.3 AF044311 NM_001330120 "CCDS7380|CCDS81483" O76070 "9044857|9700196" MGI:1298397 RGD:70996 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602998 HGNC:11141 "ENST00000372017.4|NM_003087.3" HGNC:30646 SND1 staphylococcal nuclease and tudor domain containing 1 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "TDRD11|p100" "p100 EBNA2 co-activator|Tudor-SN" "Tudor domain containing|MicroRNA protein coding host genes" "780|1691" 2006-12-19 2023-01-20 27044 ENSG00000197157 OTTHUMG00000157560 uc003vmi.4 NM_014390 CCDS34747 Q7KZF4 "7651391|9003410|12819296" MGI:1929266 RGD:631340 SND1 602181 HGNC:30646 "ENST00000354725.8|NM_014390.4" HGNC:55639 SND1-DT SND1 divergent transcript non-coding RNA RNA, long non-coding Approved 7q32.1 07q32.1 Divergent transcripts 1990 2021-06-25 2021-06-25 121832805 ENSG00000240790 XR_007060514 HGNC:24158 SND1-IT1 SND1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 7q32.1 07q32.1 "NAG8|NSG-X" nasopharyngeal carcinoma associated gene protein-8 C7orf54 "chromosome 7 open reading frame 54|SND1 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2007-07-13 2011-11-25 2015-02-25 2023-03-15 27099 ENSG00000279078 OTTHUMG00000189460 uc003vmj.4 AF191492 NR_027330 Q9HBX3 34969359 SND1-IT1 HGNC:24158 HGNC:24696 SNED1 sushi, nidogen and EGF like domains 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ00133|SST3|Snep" sushi, nidogen and EGF-like domains 1 "Fibronectin type III domain containing|Sushi domain containing" "555|1179" 2004-10-18 2016-01-21 2023-01-20 25992 ENSG00000162804 OTTHUMG00000151803 uc002wah.2 AK074062 NM_001080437 CCDS46562 Q8TER0 15162516 MGI:3045960 RGD:1566079 616634 HGNC:24696 "ENST00000310397.13|NM_001080437.3" HGNC:41060 SNED1-AS1 SNED1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Antisense RNAs 1987 2020-03-27 2020-03-27 105373970 ENSG00000225521 OTTHUMG00000151792 XR_007088302 -HGNC:17028 SNF8 SNF8 subunit of ESCRT-II protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "EAP30|VPS22|Dot3" SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) ESCRT-II 1117 2005-08-02 2019-01-31 2023-01-20 11267 ENSG00000159210 OTTHUMG00000160569 uc002ioj.5 AF156102 NM_007241 "CCDS82156|CCDS11541" Q96H20 "10419521|15329733" MGI:1343161 RGD:1310144 610904 HGNC:17028 "ENST00000502492.6|NM_007241.4" +HGNC:17028 SNF8 SNF8 subunit of ESCRT-II protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "EAP30|VPS22|Dot3" SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) ESCRT-II 1117 2005-08-02 2019-01-31 2023-01-20 11267 ENSG00000159210 OTTHUMG00000160569 uc002ioj.5 AF156102 NM_007241 "CCDS11541|CCDS82156" Q96H20 "10419521|15329733" MGI:1343161 RGD:1310144 610904 HGNC:17028 "ENST00000502492.6|NM_007241.4" HGNC:54702 SNF8P1 SNF8 pseudogene 1 pseudogene pseudogene Approved 2q36.3 02q36.3 2019-11-29 2019-11-29 646794 ENSG00000203387 NG_021553 HGNC:32688 SNHG1 small nucleolar RNA host gene 1 non-coding RNA RNA, long non-coding Approved 11q12.3 11q12.3 "UHG|NCRNA00057|LINC00057|lncRNA16" "U22 snoRNA host gene|non-protein coding RNA 57|long intergenic non-protein coding RNA 57" small nucleolar RNA host gene 1 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2006-07-31 2015-02-20 2017-04-28 23642 ENSG00000255717 OTTHUMG00000167743 uc058cou.1 L36588 NR_003098 "8559254|23801869|26252651|27999202" 603222 snhg1 SNHG1 HGNC:32688 HGNC:10118 SNHG3 small nucleolar RNA host gene 3 non-coding RNA RNA, long non-coding Approved 1p35.3 01p35.3 "U17HG|U17HG-A|NCRNA00014" non-protein coding RNA 14 "RNU17D|RNU17C" "RNA, U17D small nucleolar|RNA, U17C small nucleolar|small nucleolar RNA host gene 3 (non-protein coding)" Small nucleolar RNA non-coding host genes 1839 1999-12-14 2006-07-31 2015-02-20 2018-08-09 8420 ENSG00000242125 OTTHUMG00000003657 uc031tvj.2 AJ006834 NR_002909.1 "9671460|30042166" MGI:2684817 603238 snhg3 SNHG3 HGNC:10118 @@ -36772,8 +36775,8 @@ HGNC:51884 SNORD170 small nucleolar RNA, C/D box 170 non-coding RNA RNA, small n HGNC:51886 SNORD172 small nucleolar RNA, C/D box 172 non-coding RNA RNA, small nucleolar Approved 10q22.2 10q22.2 Small nucleolar RNAs, C/D box 845 2015-09-18 2015-10-14 2017-01-27 109623471 NR_145812 27174936 HGNC:51886 HGNC:51887 SNORD173 small nucleolar RNA, C/D box 173 non-coding RNA RNA, small nucleolar Approved 8q22.3 08q22.3 Small nucleolar RNAs, C/D box 845 2015-09-18 2015-10-14 2017-01-27 109623480 NR_145795 27174936 HGNC:51887 HGNC:51889 SNORD175 small nucleolar RNA, C/D box 175 non-coding RNA RNA, small nucleolar Approved 19q13.2 19q13.2 SNORD small nucleolar RNA, C/D box 175 Small nucleolar RNAs, C/D box 845 2015-09-18 2015-10-14 2017-01-27 109623469 NR_145805 27174936 HGNC:51889 -HGNC:15931 SNPH syntaphilin protein-coding gene gene with protein product Approved 20p13 20p13 bA314N13.5 2001-06-21 2023-01-20 9751 ENSG00000101298 OTTHUMG00000031662 uc002wes.4 NM_014723 "CCDS82590|CCDS13012" O15079 10707983 MGI:2139270 RGD:1305867 604942 HGNC:15931 "ENST00000381867.6|NM_001318234.2" -HGNC:30598 SNRK SNF related kinase protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "FLJ20224|HSNFRK|KIAA0096" 2005-03-17 2023-01-20 54861 ENSG00000163788 OTTHUMG00000156491 uc003cmt.5 D43636 NM_017719 "CCDS82759|CCDS43075" Q9NRH2 "8654423|7788527" MGI:108104 RGD:69653 612760 objectId:2202 HGNC:30598 "ENST00000296088.12|NM_017719.5" +HGNC:15931 SNPH syntaphilin protein-coding gene gene with protein product Approved 20p13 20p13 bA314N13.5 2001-06-21 2023-01-20 9751 ENSG00000101298 OTTHUMG00000031662 uc002wes.4 NM_014723 "CCDS13012|CCDS82590" O15079 10707983 MGI:2139270 RGD:1305867 604942 HGNC:15931 "ENST00000381867.6|NM_001318234.2" +HGNC:30598 SNRK SNF related kinase protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "FLJ20224|HSNFRK|KIAA0096" 2005-03-17 2023-01-20 54861 ENSG00000163788 OTTHUMG00000156491 uc003cmt.5 D43636 NM_017719 "CCDS43075|CCDS82759" Q9NRH2 "8654423|7788527" MGI:108104 RGD:69653 612760 objectId:2202 HGNC:30598 "ENST00000296088.12|NM_017719.5" HGNC:41269 SNRK-AS1 SNRK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 SNRK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873954 ENSG00000234617 OTTHUMG00000156490 uc031rzb.2 NR_046757 SNRK-AS1 HGNC:41269 HGNC:14161 SNRNP25 small nuclear ribonucleoprotein U11/U12 subunit 25 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 U11/U12-25K U11/U12 snRNP 25K C16orf33 "chromosome 16 open reading frame 33|small nuclear ribonucleoprotein 25kDa (U11/U12)|small nuclear ribonucleoprotein, U11/U12 25kDa subunit" "U11/U12 di-snRNP|U11 small nuclear ribonucleoprotein" "1521|2045" 2000-12-21 2008-10-29 2016-03-11 2023-01-20 79622 ENSG00000161981 OTTHUMG00000060720 uc059ofp.1 BC001381 NM_024571 CCDS10396 Q9BV90 15146077 MGI:1925622 RGD:1310922 HGNC:14161 "ENST00000293861.8|NM_024571.4" HGNC:30240 SNRNP27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "RY1|U4/U6.U5-27K" "nucleic acid binding protein RY 1|U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein" "small nuclear ribonucleoprotein 27kDa (U4/U6.U5)|small nuclear ribonucleoprotein, U4/U6.U5 27kDa subunit" tri-snRP complex 1506 2008-10-29 2016-03-11 2023-01-20 11017 ENSG00000124380 OTTHUMG00000152689 uc002sfw.4 X76302 NM_006857 CCDS33219 Q8WVK2 "7931148|9085842" MGI:1913868 RGD:1310925 619629 HGNC:30240 "ENST00000244227.8|NM_006857.3" @@ -36781,7 +36784,7 @@ HGNC:30852 SNRNP35 small nuclear ribonucleoprotein U11/U12 subunit 35 protein-co HGNC:30857 SNRNP40 small nuclear ribonucleoprotein U5 subunit 40 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "PRP8BP|SPF38|PRPF8BP|HPRP8BP" WDR57 "WD repeat domain 57 (U5 snRNP specific)|small nuclear ribonucleoprotein 40kDa (U5)|small nuclear ribonucleoprotein, U5 40kDa subunit" "WD repeat domain containing|U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "362|1503|1508|1510|1516" 2005-04-28 2008-10-29 2016-03-11 2023-01-20 9410 ENSG00000060688 OTTHUMG00000003790 uc001bso.4 AF090988 NM_004814 CCDS340 Q96DI7 "9774689|9731529|10788320" MGI:1913835 RGD:1309198 607797 HGNC:30857 "ENST00000263694.9|NM_004814.3" HGNC:56562 SNRNP40P1 SNRNP40 pseudogene 1 pseudogene pseudogene Approved 3q25.31 03q25.31 2022-11-02 2022-11-02 751837 ENSG00000227709 NG_005750 PGOHUM00000299240 HGNC:21368 SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "FLJ32234|dJ512B11.2|dJ336K20B.1" "U11/U12 snRNP 48K|U11-48K" C6orf151 "chromosome 6 open reading frame 151|small nuclear ribonucleoprotein 48kDa (U11/U12)|small nuclear ribonucleoprotein, U11/U12 48KDa subunit" "U11/U12 di-snRNP|U11 small nuclear ribonucleoprotein" "1521|2045" 2003-06-11 2008-10-29 2016-03-11 2023-01-20 154007 ENSG00000168566 OTTHUMG00000014213 uc003mxr.3 AK056796 NM_152551 CCDS4502 Q6IEG0 15146077 MGI:1915047 RGD:1309020 HGNC:21368 "ENST00000342415.6|NM_152551.4" -HGNC:11150 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "U1-70K|Snp1" "RNPU1Z|RPU1|SNRP70" "small nuclear ribonucleoprotein 70kDa (RNP antigen)|small nuclear ribonucleoprotein 70kDa (U1)|small nuclear ribonucleoprotein, U1 70kDa subunit" "RNA binding motif containing|U1 small nuclear ribonucleoprotein" "725|1499" 1988-04-28 2008-10-29 2016-03-11 2023-01-20 6625 ENSG00000104852 OTTHUMG00000183344 uc002pmk.4 NM_003089 "CCDS12756|CCDS74417" P08621 MGI:98341 RGD:1307120 180740 471122 HGNC:11150 "ENST00000598441.6|NM_003089.6" +HGNC:11150 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "U1-70K|Snp1" "RNPU1Z|RPU1|SNRP70" "small nuclear ribonucleoprotein 70kDa (RNP antigen)|small nuclear ribonucleoprotein 70kDa (U1)|small nuclear ribonucleoprotein, U1 70kDa subunit" "RNA binding motif containing|U1 small nuclear ribonucleoprotein" "725|1499" 1988-04-28 2008-10-29 2016-03-11 2023-01-20 6625 ENSG00000104852 OTTHUMG00000183344 uc002pmk.4 NM_003089 "CCDS74417|CCDS12756" P08621 MGI:98341 RGD:1307120 180740 471122 HGNC:11150 "ENST00000598441.6|NM_003089.6" HGNC:30859 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "U5-200KD|HELIC2|KIAA0788|Brr2" "U5 snRNP specific protein, 200 KD|bad response to refrigeration 2 homolog (S. cerevisiae)" "ASCC3L1|RP33" "activating signal cointegrator 1 complex subunit 3-like 1|retinitis pigmentosa 33 (autosomal dominant)|small nuclear ribonucleoprotein 200kDa (U5)|small nuclear ribonucleoprotein, U5 200kDa subunit" "RNA helicases|U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1168|1503|1508|1510|1516" 2004-08-26 2008-10-29 2016-03-11 2023-03-20 23020 ENSG00000144028 OTTHUMG00000130455 uc002svu.4 AL831994 NM_014014 CCDS2020 O75643 "9872452|8670905|9774689|9539711|16612614|19878916" MGI:2444401 RGD:1561120 601664 221348 HGNC:30859 "ENST00000323853.10|NM_014014.5" HGNC:30859 HGNC:11151 SNRPA small nuclear ribonucleoprotein polypeptide A protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "U1A|U1-A|Mud1" "RNA binding motif containing|U1 small nuclear ribonucleoprotein" "725|1499" 1989-06-30 2023-01-20 6626 ENSG00000077312 OTTHUMG00000182689 uc002ooz.4 X06347 NM_004596 CCDS12565 P09012 1701111 MGI:1855690 RGD:1307416 182285 HGNC:11151 "ENST00000243563.8|NM_004596.5" HGNC:11151 HGNC:11152 SNRPA1 small nuclear ribonucleoprotein polypeptide A' protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "Lea1|U2A'" U2 small nuclear ribonucleoprotein 1501 1988-11-28 2023-01-20 6627 ENSG00000131876 OTTHUMG00000149871 uc002bww.4 AJ130971 NM_003090 CCDS10391 P09661 2928112 MGI:1916231 RGD:2320494 603521 HGNC:11152 "ENST00000254193.11|NM_003090.4" @@ -36813,7 +36816,7 @@ HGNC:49833 SNRPCP18 small nuclear ribonucleoprotein polypeptide C pseudogene 18 HGNC:49834 SNRPCP19 small nuclear ribonucleoprotein polypeptide C pseudogene 19 pseudogene pseudogene Approved 7p15.3 07p15.3 2014-03-06 2014-03-06 100310849 ENSG00000234999 OTTHUMG00000152583 NG_013312 HGNC:49834 HGNC:49835 SNRPCP20 small nuclear ribonucleoprotein polypeptide C pseudogene 20 pseudogene pseudogene Approved 16p13.3 16p13.3 2014-03-06 2014-03-06 106480292 ENSG00000267182 OTTHUMG00000177253 NG_044195 HGNC:49835 HGNC:11158 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "HsT2456|Sm-D1" SNRPD "small nuclear ribonucleoprotein D1 polypeptide (16kD)|small nuclear ribonucleoprotein D1 polypeptide 16kDa" Sm spliceosomal proteins 1255 1990-06-13 2015-11-09 2023-01-20 6632 ENSG00000167088 OTTHUMG00000178934 uc002ktj.2 L36188 NM_006938 CCDS32801 P62314 "7527560|1701240" MGI:98344 RGD:1306345 601063 HGNC:11158 "ENST00000300413.10|NM_006938.4" -HGNC:11159 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide protein-coding gene gene with protein product Approved 19q13.2-q13.3 19q13.2-q13.3 Sm-D2 snRNP core protein D2 SNRPD1 "small nuclear ribonucleoprotein D2 polypeptide (16.5kD)|small nuclear ribonucleoprotein D2 polypeptide 16.5kDa" Sm spliceosomal proteins 1255 1990-06-13 2015-11-09 2023-01-20 6633 ENSG00000125743 OTTHUMG00000182130 uc002pcw.4 NM_004597 "CCDS54281|CCDS92646|CCDS33053" P62316 "7527560|1701240" MGI:98345 RGD:1593018 601061 HGNC:11159 "ENST00000342669.8|NM_001384647.1" +HGNC:11159 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide protein-coding gene gene with protein product Approved 19q13.2-q13.3 19q13.2-q13.3 Sm-D2 snRNP core protein D2 SNRPD1 "small nuclear ribonucleoprotein D2 polypeptide (16.5kD)|small nuclear ribonucleoprotein D2 polypeptide 16.5kDa" Sm spliceosomal proteins 1255 1990-06-13 2015-11-09 2023-01-20 6633 ENSG00000125743 OTTHUMG00000182130 uc002pcw.4 NM_004597 "CCDS92646|CCDS33053|CCDS54281" P62316 "7527560|1701240" MGI:98345 RGD:1593018 601061 HGNC:11159 "ENST00000342669.8|NM_001384647.1" HGNC:31459 SNRPD2P1 small nuclear ribonucleoprotein D2 pseudogene 1 pseudogene pseudogene Approved 10q23.31 10q23.31 bA478K7.1 SNRPD2P small nuclear ribonucleoprotein D2 pseudogene 2004-05-27 2010-06-28 2010-06-28 2014-11-19 119358 ENSG00000228938 OTTHUMG00000018727 NG_023172 PGOHUM00000238885 HGNC:31459 HGNC:38598 SNRPD2P2 small nuclear ribonucleoprotein D2 pseudogene 2 pseudogene pseudogene Approved 1q42.2 01q42.2 2010-06-28 2014-11-19 645339 ENSG00000223982 OTTHUMG00000039489 NR_033826 PGOHUM00000244478 HGNC:38598 HGNC:11160 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "SMD3|Sm-D3" "small nuclear ribonucleoprotein D3 polypeptide (18kD)|small nuclear ribonucleoprotein D3 polypeptide 18kDa" Sm spliceosomal proteins 1255 1995-04-26 2015-11-09 2023-01-20 6634 ENSG00000100028 OTTHUMG00000150727 uc003aam.3 U15009 NM_004175 CCDS13828 P62318 "1701240|7527560" MGI:1914582 RGD:1597573 601062 HGNC:11160 "ENST00000215829.8|NM_004175.5" @@ -36835,7 +36838,7 @@ HGNC:16551 SNRPFP1 small nuclear ribonucleoprotein polypeptide F pseudogene 1 ps HGNC:39665 SNRPFP2 small nuclear ribonucleoprotein polypeptide F pseudogene 2 pseudogene pseudogene Approved 1p36.11 01p36.11 2011-03-22 2014-11-18 100874411 ENSG00000229786 OTTHUMG00000156992 NG_032338 PGOHUM00000244640 HGNC:39665 HGNC:39666 SNRPFP3 small nuclear ribonucleoprotein polypeptide F pseudogene 3 pseudogene pseudogene Approved 13q21.33 13q21.33 2011-03-22 2014-11-18 100874422 ENSG00000225501 OTTHUMG00000017051 NG_032339 PGOHUM00000248429 HGNC:39666 HGNC:39667 SNRPFP4 small nuclear ribonucleoprotein polypeptide F pseudogene 4 pseudogene pseudogene Approved 3p21.31 03p21.31 2011-03-22 2014-11-18 100874412 ENSG00000235627 OTTHUMG00000156827 NG_032340 PGOHUM00000238027 HGNC:39667 -HGNC:11163 SNRPG small nuclear ribonucleoprotein polypeptide G protein-coding gene gene with protein product Approved 2p13.3 02p13.3 Sm-G Sm spliceosomal proteins 1255 1990-06-13 2023-01-20 6637 ENSG00000143977 OTTHUMG00000129670 uc002sgp.4 X85373 NM_001317165 "CCDS1903|CCDS82463|CCDS82461|CCDS82462" P62308 7744013 MGI:1915261 RGD:1584713 603542 HGNC:11163 "ENST00000272348.7|NM_003096.4" +HGNC:11163 SNRPG small nuclear ribonucleoprotein polypeptide G protein-coding gene gene with protein product Approved 2p13.3 02p13.3 Sm-G Sm spliceosomal proteins 1255 1990-06-13 2023-01-20 6637 ENSG00000143977 OTTHUMG00000129670 uc002sgp.4 X85373 NM_001317165 "CCDS1903|CCDS82462|CCDS82461|CCDS82463" P62308 7744013 MGI:1915261 RGD:1584713 603542 HGNC:11163 "ENST00000272348.7|NM_003096.4" HGNC:20033 SNRPGP1 small nuclear ribonucleoprotein polypeptide G pseudogene 1 pseudogene pseudogene Approved 14q22.1 14q22.1 SNRPGP small nuclear ribonucleoprotein polypeptide G pseudogene 2003-01-13 2010-11-29 2010-11-29 2014-11-19 326272 ENSG00000258577 OTTHUMG00000170979 NG_009028 PGOHUM00000247798 HGNC:20033 HGNC:30999 SNRPGP2 small nuclear ribonucleoprotein polypeptide G pseudogene 2 pseudogene pseudogene Approved 18q21.2 18q21.2 HsT2742 2004-01-05 2020-04-20 100130003 ENSG00000264350 OTTHUMG00000179764 NG_027990 PGOHUM00000294668 HGNC:30999 HGNC:39322 SNRPGP3 small nuclear ribonucleoprotein polypeptide G pseudogene 3 pseudogene pseudogene Approved 7q32.1 07q32.1 2010-11-29 2010-11-29 100874407 ENSG00000239919 OTTHUMG00000157694 NG_032250 PGOHUM00000233568 HGNC:39322 @@ -36856,20 +36859,20 @@ HGNC:49372 SNRPGP17 small nuclear ribonucleoprotein polypeptide G pseudogene 17 HGNC:49374 SNRPGP18 small nuclear ribonucleoprotein polypeptide G pseudogene 18 pseudogene pseudogene Approved 12q24.21 12q24.21 2013-10-18 2013-10-18 2014-02-12 106480680 ENSG00000257979 OTTHUMG00000169455 NG_023366 PGOHUM00000239938 HGNC:49374 HGNC:49375 SNRPGP19 small nuclear ribonucleoprotein polypeptide G pseudogene 19 pseudogene pseudogene Approved 11q13.1 11q13.1 2013-10-18 2013-10-18 106481686 ENSG00000270526 OTTHUMG00000184809 NG_043091 PGOHUM00000242330 HGNC:49375 HGNC:49376 SNRPGP20 small nuclear ribonucleoprotein polypeptide G pseudogene 20 pseudogene pseudogene Approved 12q21.31 12q21.31 2013-10-18 2013-10-18 106480271 ENSG00000271496 OTTHUMG00000184774 NG_044031 PGOHUM00000239527 HGNC:49376 -HGNC:11164 SNRPN small nuclear ribonucleoprotein polypeptide N protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "SMN|SM-D|HCERN3|SNRNP-N|SNURF-SNRPN|RT-LI" "tissue-specific splicing protein|SM protein N|small nuclear ribonucleoprotein N" PWCR Prader-Willi syndrome chromosome region Sm spliceosomal proteins 1255 1992-08-24 2023-01-20 6638 ENSG00000128739 OTTHUMG00000129180 uc001ywp.1 L80005 NM_003097 "CCDS10017|CCDS91965" P63162 1533223 MGI:98347 RGD:621306 182279 119771 HGNC:11164 "ENST00000390687.9|NM_003097.6" +HGNC:11164 SNRPN small nuclear ribonucleoprotein polypeptide N protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "SMN|SM-D|HCERN3|SNRNP-N|SNURF-SNRPN|RT-LI" "tissue-specific splicing protein|SM protein N|small nuclear ribonucleoprotein N" PWCR Prader-Willi syndrome chromosome region Sm spliceosomal proteins 1255 1992-08-24 2023-01-20 6638 ENSG00000128739 OTTHUMG00000129180 uc001ywp.1 L80005 NM_003097 "CCDS91965|CCDS10017" P63162 1533223 MGI:98347 RGD:621306 182279 119771 HGNC:11164 "ENST00000390687.9|NM_003097.6" HGNC:11167 SNTA1 syntrophin alpha 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "TACIP1|LQT12" "pro-TGF-alpha cytoplasmic domain-interacting protein 1|dystrophin-associated protein A1, 59kDa, acidic component" SNT1 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component) PDZ domain containing 1220 1994-12-14 2016-01-14 2023-01-20 6640 ENSG00000101400 OTTHUMG00000032259 uc002wzd.2 U40571 NM_003098 CCDS13220 Q13424 "8576247|8612778" MGI:101772 RGD:1307068 "SNTA1 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=SNTA1|LRG_332|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_332.xml" 601017 218358 HGNC:11167 "ENST00000217381.3|NM_003098.3" HGNC:11167 HGNC:11168 SNTB1 syntrophin beta 1 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "59-DAP|A1B|BSYN2|TIP-43|SNT2" tax interaction protein 43 SNT2B1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) "Pleckstrin homology domain containing|PDZ domain containing" "682|1220" 1994-12-14 2016-01-14 2023-01-20 6641 ENSG00000172164 OTTHUMG00000165041 uc010mdg.4 AF028828 NM_021021 CCDS6334 Q13884 "8183929|9482110" MGI:101781 RGD:1307728 600026 HGNC:11168 "ENST00000517992.2|NM_021021.4" HGNC:11169 SNTB2 syntrophin beta 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "EST25263|SNT3" "SNT2B2|SNTL|D16S2531E" syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) PDZ domain containing 1220 1994-12-14 2016-01-14 2023-03-15 6645 ENSG00000168807 OTTHUMG00000137567 uc002ewu.4 U40572 NM_006750 CCDS10873 Q13425 "8576247|8183929" MGI:101771 RGD:1592340 600027 HGNC:11169 "ENST00000336278.9|NM_006750.4" -HGNC:13740 SNTG1 syntrophin gamma 1 protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "SYN4|G1SYN" Gamma-1-syntrophin PDZ domain containing 1220 2000-10-20 2016-01-14 2023-01-20 54212 ENSG00000147481 OTTHUMG00000164257 uc010lxy.3 AJ003030 NM_001287813 "CCDS87608|CCDS6147|CCDS75737" Q9NSN8 10747910 MGI:1918346 RGD:1560290 608714 HGNC:13740 "ENST00000642720.2|NM_018967.5" +HGNC:13740 SNTG1 syntrophin gamma 1 protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "SYN4|G1SYN" Gamma-1-syntrophin PDZ domain containing 1220 2000-10-20 2016-01-14 2023-01-20 54212 ENSG00000147481 OTTHUMG00000164257 uc010lxy.3 AJ003030 NM_001287813 "CCDS75737|CCDS87608|CCDS6147" Q9NSN8 10747910 MGI:1918346 RGD:1560290 608714 HGNC:13740 "ENST00000642720.2|NM_018967.5" HGNC:13741 SNTG2 syntrophin gamma 2 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "SYN5|G2SYN" PDZ domain containing 1220 2000-10-20 2016-01-14 2023-01-20 54221 ENSG00000172554 OTTHUMG00000151370 uc002qwq.4 AJ003029 NM_018968 CCDS46220 Q9NY99 10747910 MGI:1919541 RGD:1311276 608715 HGNC:13741 "ENST00000308624.10|NM_018968.4" HGNC:54058 SNTG2-AS1 SNTG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 Antisense RNAs 1987 2018-09-27 2018-09-27 2018-09-27 2018-09-27 101060391 ENSG00000235688 NR_136151 HGNC:54058 HGNC:33706 SNTN sentan, cilia apical structure protein protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "FLJ44379|S100AL" S100A-like protein 2009-03-10 2009-03-10 2023-01-20 132203 ENSG00000188817 OTTHUMG00000158766 uc003dlr.4 AK126350 NM_001080537 CCDS33779 A6NMZ2 18829862 MGI:3045373 RGD:1562356 617832 HGNC:33706 "ENST00000343837.8|NM_001080537.2" -HGNC:7819 SNU13 small nuclear ribonucleoprotein 13 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "FA-1|SPAG12|SNRNP15-5|15.5K" small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5) "SSFA1|NHP2L1" "non-histone chromosome protein 2 (S. cerevisiae)-like 1|sperm specific antigen 1|NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)|SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5)" "U3 small nucleolar ribonucleoprotein|U4/U6 small nuclear ribonucleoprotein particle" "1485|1502" 1995-06-14 2015-07-10 2017-03-13 2023-01-20 4809 ENSG00000100138 OTTHUMG00000151189 NM_001003796 "CCDS14022|CCDS33653" P55769 "8978773|17412961|17636026" MGI:893586 RGD:1303103 LRG_1102|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1102.xml 601304 HGNC:7819 "ENST00000401959.6|NM_001003796.2" +HGNC:7819 SNU13 small nuclear ribonucleoprotein 13 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "FA-1|SPAG12|SNRNP15-5|15.5K" small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5) "SSFA1|NHP2L1" "non-histone chromosome protein 2 (S. cerevisiae)-like 1|sperm specific antigen 1|NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)|SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5)" "U3 small nucleolar ribonucleoprotein|U4/U6 small nuclear ribonucleoprotein particle" "1485|1502" 1995-06-14 2015-07-10 2017-03-13 2023-01-20 4809 ENSG00000100138 OTTHUMG00000151189 NM_001003796 "CCDS33653|CCDS14022" P55769 "8978773|17412961|17636026" MGI:893586 RGD:1303103 LRG_1102|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1102.xml 601304 HGNC:7819 "ENST00000401959.6|NM_001003796.2" HGNC:14245 SNUPN snurportin 1 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "SNURPORTIN-1|Snurportin1" RNUT1 RNA, U transporter 1 2001-01-10 2006-07-14 2006-07-14 2023-01-20 10073 ENSG00000169371 OTTHUMG00000142833 uc002baq.4 AF039029 NM_005701 CCDS10281 O95149 9670026 MGI:1913319 RGD:1303191 607902 HGNC:14245 "ENST00000308588.10|NM_005701.4" HGNC:11171 SNURF SNRPN upstream open reading frame protein-coding gene gene with protein product Approved 15q11.2 15q11.2 SNRPN upstream reading frame 1999-01-07 2021-03-11 2023-03-08 8926 ENSG00000273173 OTTHUMG00000186421 uc001ywu.4 NM_005678 CCDS10016 Q9Y675 10318933 MGI:1891236 HGNC:11171 "ENST00000577949.6|NM_001394334.1" HGNC:29543 SNURFL SNRPN upstream open reading frame like (pseudogene) pseudogene pseudogene Approved Xq27.1 Xq27.1 CXorf19 "chromosome X open reading frame 19|SNRPN upstream reading frame-like|SNRPN upstream reading frame like (pseudogene)" 2006-06-30 2010-12-08 2021-03-11 2021-03-11 727686 ENSG00000173954 OTTHUMG00000022534 NG_005696 B1AK76 HGNC:29543 HGNC:16696 SNW1 SNW domain containing 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "NCoA-62|SKIP|Prp45|PRPF45|Bx42|SKIP1|FUN20" SKIIP SKI interacting protein "NTC associated proteins|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1498|1507|1508|1510|1516" 2004-05-25 2005-09-13 2005-09-13 2023-01-20 22938 ENSG00000100603 OTTHUMG00000171527 uc001xuf.4 AF045184 NM_012245 "CCDS81830|CCDS9867" Q13573 "8973337|9632709" MGI:1913604 RGD:1561926 603055 HGNC:16696 "ENST00000261531.12|NM_012245.3" -HGNC:11172 SNX1 sorting nexin 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "SNX1A|MGC8664|HsT17379|Vps5" "Sorting nexins|PX-BAR domain containing" "754|1290" 1996-07-17 2023-03-15 6642 ENSG00000028528 OTTHUMG00000172436 uc059keu.1 BC000357 NM_003099 "CCDS58371|CCDS32268|CCDS32266" Q13596 8638121 MGI:1928395 RGD:68935 601272 HGNC:11172 "ENST00000559844.6|NM_003099.5" +HGNC:11172 SNX1 sorting nexin 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "SNX1A|MGC8664|HsT17379|Vps5" "Sorting nexins|PX-BAR domain containing" "754|1290" 1996-07-17 2023-03-15 6642 ENSG00000028528 OTTHUMG00000172436 uc059keu.1 BC000357 NM_003099 "CCDS32268|CCDS58371|CCDS32266" Q13596 8638121 MGI:1928395 RGD:68935 601272 HGNC:11172 "ENST00000559844.6|NM_003099.5" HGNC:11173 SNX2 sorting nexin 2 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "Sorting nexins|PX-BAR domain containing" "754|1290" 1996-07-17 2023-01-20 6643 ENSG00000205302 OTTHUMG00000163020 uc003kte.5 AF043453 NM_003100 "CCDS34217|CCDS64234" O60749 9819414 MGI:1915054 RGD:1310291 605929 HGNC:11173 "ENST00000379516.7|NM_003100.4" HGNC:41514 SNX2P1 sorting nexin 2 pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 2011-05-03 2020-04-06 100418968 ENSG00000270585 OTTHUMG00000184471 NG_027207 PGOHUM00000245208 HGNC:41514 HGNC:41515 SNX2P2 sorting nexin 2 pseudogene 2 pseudogene pseudogene Approved 7p14.3 07p14.3 2011-05-03 2011-05-03 100873785 ENSG00000236460 OTTHUMG00000152897 NG_032371 PGOHUM00000250928 HGNC:41515 @@ -36882,20 +36885,20 @@ HGNC:41512 SNX5P1 sorting nexin 5 pseudogene 1 pseudogene pseudogene Approved 4q HGNC:41513 SNX5P2 sorting nexin 5 pseudogene 2 pseudogene pseudogene Approved 12q23.1 12q23.1 2011-05-03 2020-04-06 728467 ENSG00000258033 OTTHUMG00000170498 NG_009120 PGOHUM00000239905 HGNC:41513 HGNC:14970 SNX6 sorting nexin 6 protein-coding gene gene with protein product Approved 14q13.1 14q13.1 "Sorting nexins|PX-BAR domain containing" "754|1290" 2001-04-10 2023-01-20 58533 ENSG00000129515 OTTHUMG00000140213 uc001wsf.2 AF121856 NM_001366519 "CCDS41942|CCDS9648" Q9UNH7 11279102 MGI:1919433 RGD:1304647 606098 HGNC:14970 "ENST00000362031.10|NM_152233.4" HGNC:41511 SNX6P1 sorting nexin 6 pseudogene 1 pseudogene pseudogene Approved 19p12 19p12 2011-05-03 2016-07-25 126506 ENSG00000267920 OTTHUMG00000183229 NG_002348 PGOHUM00000294958 HGNC:41511 -HGNC:14971 SNX7 sorting nexin 7 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "Sorting nexins|PX-BAR domain containing" "754|1290" 2001-04-10 2023-01-20 51375 ENSG00000162627 OTTHUMG00000010723 uc010ouc.3 AF121857 NM_001364903 "CCDS755|CCDS756" Q9UNH6 MGI:1923811 RGD:1305480 614904 HGNC:14971 "ENST00000306121.8|NM_015976.5" +HGNC:14971 SNX7 sorting nexin 7 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "Sorting nexins|PX-BAR domain containing" "754|1290" 2001-04-10 2023-01-20 51375 ENSG00000162627 OTTHUMG00000010723 uc010ouc.3 AF121857 NM_001364903 "CCDS756|CCDS755" Q9UNH6 MGI:1923811 RGD:1305480 614904 HGNC:14971 "ENST00000306121.8|NM_015976.5" HGNC:14972 SNX8 sorting nexin 8 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 Mvp1 "Sorting nexins|PX-BAR domain containing|MicroRNA protein coding host genes" "754|1290|1691" 2001-04-10 2023-01-20 29886 ENSG00000106266 OTTHUMG00000151512 uc003slw.3 AF121858 NM_013321 CCDS5331 Q9Y5X2 MGI:2443816 RGD:1305791 614905 HGNC:14972 "ENST00000222990.8|NM_013321.4" HGNC:14973 SNX9 sorting nexin 9 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "SH3PX1|SDP1|SH3PXD3A" "Sorting nexins|PX-BAR domain containing" "754|1290" 2001-04-10 2023-01-20 51429 ENSG00000130340 OTTHUMG00000015903 uc063smv.1 AF121859 NM_016224 CCDS5253 Q9Y5X1 "10531379|17609109" MGI:1913866 RGD:1584466 605952 HGNC:14973 "ENST00000392185.8|NM_016224.5" HGNC:40699 SNX9-AS1 SNX9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 Antisense RNAs 1987 2020-03-27 2020-03-27 105378078 ENSG00000236324 OTTHUMG00000015900 NR_183542 HGNC:14974 SNX10 sorting nexin 10 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 Sorting nexins 754 2001-04-10 2023-01-20 29887 ENSG00000086300 OTTHUMG00000023650 uc010kuu.4 AF121860 NM_001199835 "CCDS56470|CCDS5399" Q9Y5X0 17012226 MGI:1919232 RGD:1305782 614780 299652 HGNC:14974 "ENST00000338523.9|NM_013322.3" HGNC:14974 HGNC:55845 SNX10-AS1 SNX10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 Antisense RNAs 1987 2021-08-12 2021-08-12 105375304 ENSG00000225792 NR_136270 -HGNC:14975 SNX11 sorting nexin 11 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 Sorting nexins 754 2001-04-10 2023-01-20 29916 ENSG00000002919 OTTHUMG00000178822 uc002inf.2 AF121861 NM_001330320 "CCDS82152|CCDS11526" Q9Y5W9 MGI:1921729 RGD:1307319 614906 HGNC:14975 "ENST00000359238.7|NM_013323.3" +HGNC:14975 SNX11 sorting nexin 11 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 Sorting nexins 754 2001-04-10 2023-01-20 29916 ENSG00000002919 OTTHUMG00000178822 uc002inf.2 AF121861 NM_001330320 "CCDS11526|CCDS82152" Q9Y5W9 MGI:1921729 RGD:1307319 614906 HGNC:14975 "ENST00000359238.7|NM_013323.3" HGNC:14976 SNX12 sorting nexin 12 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 Sorting nexins 754 2001-04-10 2023-01-20 29934 ENSG00000147164 OTTHUMG00000021786 uc031tjx.2 AF171229 NM_013346 "CCDS59169|CCDS14405" Q9UMY4 MGI:1919331 RGD:1565585 300883 HGNC:14976 "ENST00000374274.8|NM_013346.4" -HGNC:21335 SNX13 sorting nexin 13 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "RGS-PX1|KIAA0713" Sorting nexins 754 2003-09-04 2023-01-20 23161 ENSG00000071189 OTTHUMG00000152730 uc003stv.4 AF420470 NM_015132 "CCDS87483|CCDS47551" Q9Y5W8 "11485546|11729322" MGI:2661416 RGD:1309778 606589 HGNC:21335 "ENST00000428135.7|NM_015132.5" -HGNC:14977 SNX14 sorting nexin 14 protein-coding gene gene with protein product Approved 6q14.3 06q14.3 RGS-PX2 Sorting nexins 754 2003-09-04 2023-01-20 57231 ENSG00000135317 OTTHUMG00000015140 uc003pkr.4 AF121863 NM_153816 "CCDS93956|CCDS5004|CCDS5003|CCDS78163|CCDS75490|CCDS93961|CCDS93964|CCDS93960|CCDS93957|CCDS93958|CCDS93963|CCDS93959|CCDS93962|CCDS93955" Q9Y5W7 "11485546|11736640" MGI:2155664 RGD:1310921 616105 418210 HGNC:14977 "ENST00000314673.8|NM_153816.6" HGNC:14977 +HGNC:21335 SNX13 sorting nexin 13 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "RGS-PX1|KIAA0713" Sorting nexins 754 2003-09-04 2023-01-20 23161 ENSG00000071189 OTTHUMG00000152730 uc003stv.4 AF420470 NM_015132 "CCDS47551|CCDS87483" Q9Y5W8 "11485546|11729322" MGI:2661416 RGD:1309778 606589 HGNC:21335 "ENST00000428135.7|NM_015132.5" +HGNC:14977 SNX14 sorting nexin 14 protein-coding gene gene with protein product Approved 6q14.3 06q14.3 RGS-PX2 Sorting nexins 754 2003-09-04 2023-01-20 57231 ENSG00000135317 OTTHUMG00000015140 uc003pkr.4 AF121863 NM_153816 "CCDS78163|CCDS93955|CCDS5003|CCDS5004|CCDS93963|CCDS93957|CCDS75490|CCDS93960|CCDS93962|CCDS93956|CCDS93959|CCDS93961|CCDS93958|CCDS93964" Q9Y5W7 "11485546|11736640" MGI:2155664 RGD:1310921 616105 418210 HGNC:14977 "ENST00000314673.8|NM_153816.6" HGNC:14977 HGNC:14978 SNX15 sorting nexin 15 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 Sorting nexins 754 2001-04-10 2023-01-20 29907 ENSG00000110025 OTTHUMG00000037387 uc058dcd.1 AF175267 NM_013306 "CCDS8089|CCDS8090" Q9NRS6 11208079 MGI:1916274 RGD:1305803 605964 HGNC:14978 "ENST00000377244.8|NM_013306.5" -HGNC:14980 SNX16 sorting nexin 16 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 Sorting nexins 754 2003-09-05 2023-01-20 64089 ENSG00000104497 OTTHUMG00000164727 uc011lft.3 AF305779 NM_022133 "CCDS6235|CCDS6234" P57768 "12461558|12813048" MGI:1921968 RGD:620295 614903 HGNC:14980 "ENST00000345957.9|NM_152836.3" -HGNC:14979 SNX17 sorting nexin 17 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 KIAA0064 Sorting nexins 754 2001-04-10 2023-01-20 9784 ENSG00000115234 OTTHUMG00000097781 uc002rkg.3 D31764 NM_014748 "CCDS58704|CCDS1750" Q15036 "12169628|15769472" MGI:2387801 RGD:1306424 605963 471124 HGNC:14979 "ENST00000233575.7|NM_014748.4" -HGNC:19245 SNX18 sorting nexin 18 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "SH3PX2|SH3PXD3B" SNAG1 sorting nexin associated golgi protein 1 "Sorting nexins|PX-BAR domain containing" "754|1290" 2002-09-18 2008-03-11 2008-03-11 2023-01-20 112574 ENSG00000178996 OTTHUMG00000096994 uc003jpi.5 AF395536 NM_001102575 "CCDS3962|CCDS54851|CCDS43317" Q96RF0 "16782399|17761170" MGI:2137642 RGD:1310367 HGNC:19245 "ENST00000381410.5|NM_001102575.2" +HGNC:14980 SNX16 sorting nexin 16 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 Sorting nexins 754 2003-09-05 2023-01-20 64089 ENSG00000104497 OTTHUMG00000164727 uc011lft.3 AF305779 NM_022133 "CCDS6234|CCDS6235" P57768 "12461558|12813048" MGI:1921968 RGD:620295 614903 HGNC:14980 "ENST00000345957.9|NM_152836.3" +HGNC:14979 SNX17 sorting nexin 17 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 KIAA0064 Sorting nexins 754 2001-04-10 2023-01-20 9784 ENSG00000115234 OTTHUMG00000097781 uc002rkg.3 D31764 NM_014748 "CCDS1750|CCDS58704" Q15036 "12169628|15769472" MGI:2387801 RGD:1306424 605963 471124 HGNC:14979 "ENST00000233575.7|NM_014748.4" +HGNC:19245 SNX18 sorting nexin 18 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "SH3PX2|SH3PXD3B" SNAG1 sorting nexin associated golgi protein 1 "Sorting nexins|PX-BAR domain containing" "754|1290" 2002-09-18 2008-03-11 2008-03-11 2023-01-20 112574 ENSG00000178996 OTTHUMG00000096994 uc003jpi.5 AF395536 NM_001102575 "CCDS3962|CCDS43317|CCDS54851" Q96RF0 "16782399|17761170" MGI:2137642 RGD:1310367 HGNC:19245 "ENST00000381410.5|NM_001102575.2" HGNC:38442 SNX18P1Y sorting nexin 18 pseudogene 1, Y-linked pseudogene pseudogene Approved Yq11.21 Yq11.21 2011-03-17 2015-03-05 100418999 ENSG00000274162 OTTHUMG00000188067 NG_024792 PGOHUM00000305640 HGNC:38442 HGNC:39610 SNX18P2 sorting nexin 18 pseudogene 2 pseudogene pseudogene Approved 9q22.31 09q22.31 2011-03-17 2014-11-19 642952 ENSG00000232843 OTTHUMG00000020235 NG_005963 PGOHUM00000236266 HGNC:39610 HGNC:39611 SNX18P3 sorting nexin 18 pseudogene 3 pseudogene pseudogene Approved 9p13.1 09p13.1 2011-03-17 2014-11-19 100418975 ENSG00000225345 OTTHUMG00000019946 NG_023808 PGOHUM00000236039 HGNC:39611 @@ -36922,28 +36925,28 @@ HGNC:39632 SNX18P24 sorting nexin 18 pseudogene 24 pseudogene pseudogene Approve HGNC:39633 SNX18P25 sorting nexin 18 pseudogene 25 pseudogene pseudogene Approved 4p11 04p11 2011-03-17 2014-11-19 100419005 ENSG00000249337 OTTHUMG00000160593 NG_025209 PGOHUM00000245909 HGNC:39633 HGNC:39634 SNX18P26 sorting nexin 18 pseudogene 26 pseudogene pseudogene Approved 13q11 13q11 2011-03-17 2014-11-19 100419038 ENSG00000227568 OTTHUMG00000016467 NG_024826 PGOHUM00000248504 HGNC:39634 HGNC:39635 SNX18P27 sorting nexin 18 pseudogene 27 pseudogene pseudogene Approved 8p11.1 08p11.1 2011-03-17 2014-11-19 100873788 ENSG00000253418 OTTHUMG00000164115 NG_032330 PGOHUM00000249640 HGNC:39635 -HGNC:21532 SNX19 sorting nexin 19 protein-coding gene gene with protein product Approved 11q24.3-q25 11q24.3-q25 "KIAA0254|CHET8" Sorting nexins 754 2003-09-04 2023-01-20 399979 ENSG00000120451 OTTHUMG00000165663 uc001qgk.5 D87443 NM_014758 "CCDS86261|CCDS31721|CCDS86260|CCDS73416" Q92543 MGI:1921581 RGD:1309857 HGNC:21532 "ENST00000265909.9|NM_014758.3" +HGNC:21532 SNX19 sorting nexin 19 protein-coding gene gene with protein product Approved 11q24.3-q25 11q24.3-q25 "KIAA0254|CHET8" Sorting nexins 754 2003-09-04 2023-01-20 399979 ENSG00000120451 OTTHUMG00000165663 uc001qgk.5 D87443 NM_014758 "CCDS86260|CCDS31721|CCDS86261|CCDS73416" Q92543 MGI:1921581 RGD:1309857 HGNC:21532 "ENST00000265909.9|NM_014758.3" HGNC:16765 SNX19P1 sorting nexin 19 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 SNX19P sorting nexin 19 pseudogene 2003-10-01 2010-04-20 2010-04-20 2014-11-19 378810 ENSG00000228184 OTTHUMG00000074199 NG_006946 PGOHUM00000258118 HGNC:16765 HGNC:38115 SNX19P2 sorting nexin 19 pseudogene 2 pseudogene pseudogene Approved 13q11 13q11 2010-04-20 2014-11-19 400094 ENSG00000235500 OTTHUMG00000016471 NG_006945 PGOHUM00000257953 HGNC:38115 HGNC:38116 SNX19P3 sorting nexin 19 pseudogene 3 pseudogene pseudogene Approved 18p11.21 18p11.21 2010-04-20 2017-10-26 646442 ENSG00000264570 OTTHUMG00000178704 NG_006944 PGOHUM00000294610 HGNC:38116 HGNC:41510 SNX19P4 sorting nexin 19 pseudogene 4 pseudogene pseudogene Approved 10q22.1 10q22.1 2011-05-03 2020-04-06 100419047 ENSG00000276531 OTTHUMG00000187839 NG_033179 PGOHUM00000238835 HGNC:41510 -HGNC:30390 SNX20 sorting nexin 20 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "SLIC-1|SLIC1" selectin ligand interactor cytoplasmic 1 Sorting nexins 754 2008-03-11 2008-03-25 2023-01-20 124460 ENSG00000167208 OTTHUMG00000133173 uc002egk.3 AK055837 NM_153337 "CCDS10745|CCDS45481|CCDS10744" Q7Z614 "18196517|16782399" MGI:1918857 RGD:1307787 613281 HGNC:30390 "ENST00000330943.9|NM_182854.4" -HGNC:16154 SNX21 sorting nexin family member 21 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ337O18.4|SNX-L" C20orf161 chromosome 20 open reading frame 161 "Sorting nexins|Tetratricopeptide repeat domain containing" "754|769" 2001-07-17 2006-07-24 2006-07-24 2023-01-20 90203 ENSG00000124104 OTTHUMG00000032624 uc002xpv.2 AK095851 NM_033421 "CCDS42883|CCDS13376|CCDS13377" Q969T3 "12461558|12459172" MGI:1917729 RGD:2323753 619200 HGNC:16154 "ENST00000491381.6|NM_033421.4" +HGNC:30390 SNX20 sorting nexin 20 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "SLIC-1|SLIC1" selectin ligand interactor cytoplasmic 1 Sorting nexins 754 2008-03-11 2008-03-25 2023-01-20 124460 ENSG00000167208 OTTHUMG00000133173 uc002egk.3 AK055837 NM_153337 "CCDS10745|CCDS10744|CCDS45481" Q7Z614 "18196517|16782399" MGI:1918857 RGD:1307787 613281 HGNC:30390 "ENST00000330943.9|NM_182854.4" +HGNC:16154 SNX21 sorting nexin family member 21 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ337O18.4|SNX-L" C20orf161 chromosome 20 open reading frame 161 "Sorting nexins|Tetratricopeptide repeat domain containing" "754|769" 2001-07-17 2006-07-24 2006-07-24 2023-01-20 90203 ENSG00000124104 OTTHUMG00000032624 uc002xpv.2 AK095851 NM_033421 "CCDS13377|CCDS42883|CCDS13376" Q969T3 "12461558|12459172" MGI:1917729 RGD:2323753 619200 HGNC:16154 "ENST00000491381.6|NM_033421.4" HGNC:16315 SNX22 sorting nexin 22 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 FLJ13952 Sorting nexins 754 2003-09-04 2023-01-20 79856 ENSG00000157734 OTTHUMG00000132965 uc002anc.1 AK024014 NM_024798 CCDS10190 Q96L94 "12461558|17400918" MGI:2685966 RGD:1305042 HGNC:16315 "ENST00000325881.9|NM_024798.3" HGNC:21533 SNX24 sorting nexin 24 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 SBBI31 Sorting nexins 754 2003-09-04 2007-08-15 2023-01-20 28966 ENSG00000064652 OTTHUMG00000128913 uc011cwo.3 AF139461 NM_014035 CCDS4132 Q9Y343 12461558 MGI:1916476 RGD:1306864 HGNC:21533 "ENST00000261369.9|NM_014035.4" -HGNC:21883 SNX25 sorting nexin 25 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 SBBI31 Sorting nexins 754 2003-09-05 2023-01-20 83891 ENSG00000109762 OTTHUMG00000160475 uc063bjp.1 AF113223 NM_031953 "CCDS34116|CCDS93675" Q9H3E2 "12461558|34821359" MGI:2142610 RGD:1310150 HGNC:21883 "ENST00000652585.2|NM_001378034.2" +HGNC:21883 SNX25 sorting nexin 25 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 SBBI31 Sorting nexins 754 2003-09-05 2023-01-20 83891 ENSG00000109762 OTTHUMG00000160475 uc063bjp.1 AF113223 NM_031953 "CCDS93675|CCDS34116" Q9H3E2 "12461558|34821359" MGI:2142610 RGD:1310150 HGNC:21883 "ENST00000652585.2|NM_001378034.2" HGNC:41509 SNX25P1 sorting nexin 25 pseudogene 1 pseudogene pseudogene Approved 1q32.3 01q32.3 2011-05-03 2011-05-03 100419028 ENSG00000236809 OTTHUMG00000037000 NG_027204 PGOHUM00000245197 HGNC:41509 -HGNC:20073 SNX27 sorting nexin 27 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "MY014|KIAA0488|MGC20471" sorting nexin family member 27 "Sorting nexins|PDZ domain containing" "754|1220" 2003-09-05 2019-04-15 2023-01-20 81609 ENSG00000143376 OTTHUMG00000013052 uc001eyn.2 AB007957 NM_030918 "CCDS1001|CCDS81377" Q96L92 "12461558|29563155" MGI:1923992 RGD:628705 611541 471126 HGNC:20073 "ENST00000458013.7|NM_001330723.2" +HGNC:20073 SNX27 sorting nexin 27 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "MY014|KIAA0488|MGC20471" sorting nexin family member 27 "Sorting nexins|PDZ domain containing" "754|1220" 2003-09-05 2019-04-15 2023-01-20 81609 ENSG00000143376 OTTHUMG00000013052 uc001eyn.2 AB007957 NM_030918 "CCDS81377|CCDS1001" Q96L92 "12461558|29563155" MGI:1923992 RGD:628705 611541 471126 HGNC:20073 "ENST00000458013.7|NM_001330723.2" HGNC:30542 SNX29 sorting nexin 29 protein-coding gene gene with protein product Approved 16p13.13-p13.12 16p13.13-p13.12 FLJ12363 RUNDC2A RUN domain containing 2A Sorting nexins 754 2008-03-11 2023-03-15 92017 ENSG00000048471 OTTHUMG00000129827 uc002dby.6 AK074072 NM_001376490 CCDS10553 Q8TEQ0 16782399 MGI:1921728 RGD:1596162 HGNC:30542 "ENST00000566228.6|NM_032167.5" HGNC:31913 SNX29P1 sorting nexin 29 pseudogene 1 pseudogene pseudogene Approved 16p12.2 16p12.2 RUNDC2B RUN domain containing 2B 2005-02-08 2011-08-16 2011-08-16 2014-11-19 100652781 ENSG00000158482 OTTHUMG00000170414 BC041583 NR_045011 MGI:1921728 PGOHUM00000264445 HGNC:31913 HGNC:31914 SNX29P2 sorting nexin 29 pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 RUNDC2C RUN domain containing 2C 2005-02-08 2011-08-16 2011-08-16 2015-09-28 440352 ENSG00000271699 OTTHUMG00000184229 BX648280 NR_002939 Q8IUI4 MGI:1921728 PGOHUM00000293767 HGNC:31914 HGNC:23685 SNX30 sorting nexin family member 30 protein-coding gene gene with protein product Approved 9q32 09q32 ATG24A "Sorting nexins|Autophagy related|PX-BAR domain containing" "754|1022|1290" 2005-10-06 2023-01-20 401548 ENSG00000148158 OTTHUMG00000020512 uc004bgj.5 AK126644 NM_001012994 CCDS43865 Q5VWJ9 MGI:2443882 RGD:1311367 HGNC:23685 "ENST00000374232.8|NM_001012994.2" HGNC:55835 SNX30-DT SNX30 divergent transcript non-coding RNA RNA, long non-coding Approved 9q32 09q32 Divergent transcripts 1990 2021-08-02 2021-08-02 122455334 ENSG00000226609 -HGNC:28605 SNX31 sorting nexin 31 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 MGC39715 Sorting nexins 754 2008-03-11 2023-01-20 169166 ENSG00000174226 OTTHUMG00000164725 uc003yjr.4 NM_152628 "CCDS6288|CCDS87622" Q8N9S9 "16782399|24914955" MGI:1913946 RGD:1309483 619839 HGNC:28605 "ENST00000311812.7|NM_152628.4" HGNC:28605 +HGNC:28605 SNX31 sorting nexin 31 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 MGC39715 Sorting nexins 754 2008-03-11 2023-01-20 169166 ENSG00000174226 OTTHUMG00000164725 uc003yjr.4 NM_152628 "CCDS87622|CCDS6288" Q8N9S9 "16782399|24914955" MGI:1913946 RGD:1309483 619839 HGNC:28605 "ENST00000311812.7|NM_152628.4" HGNC:28605 HGNC:26423 SNX32 sorting nexin 32 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FLJ30934 SNX6B sorting nexin 6B "Sorting nexins|PX-BAR domain containing" "754|1290" 2008-02-25 2008-03-11 2008-03-11 2023-01-20 254122 ENSG00000172803 OTTHUMG00000128491 uc001ofr.4 AK055496 NM_152760 CCDS8113 Q86XE0 16782399 MGI:2444704 RGD:1560591 HGNC:26423 "ENST00000308342.7|NM_152760.3" HGNC:28468 SNX33 sorting nexin 33 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "MGC32065|SH3PXD3C|SNX30" SH3PX3 SH3 and PX domain containing 3 PX-BAR domain containing 1290 2005-07-20 2008-03-25 2008-03-25 2023-01-20 257364 ENSG00000173548 OTTHUMG00000142835 uc002bau.4 AK091291 NM_153271 CCDS10283 Q8WV41 "16374509|16782399|18353773" MGI:2443239 RGD:1307898 619107 HGNC:28468 "ENST00000308527.6|NM_153271.2" HGNC:48590 SNX33P1 sorting nexin 33 pseudogene 1 pseudogene pseudogene Approved 19p13.12 19p13.12 2013-05-21 2015-08-26 100533624 ENSG00000267609 OTTHUMG00000182271 NG_028694 PGOHUM00000294903 HGNC:48590 -HGNC:11177 SOAT1 sterol O-acyltransferase 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "ACAT|ACAT1" acyl-Coenzyme A: cholesterol acyltransferase "SOAT|STAT" sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 1998-11-04 2008-08-26 2023-01-20 6646 ENSG00000057252 OTTHUMG00000035253 uc001gml.4 L21934 NM_003101 "CCDS58048|CCDS58047|CCDS1330" P35610 8407899 MGI:104665 RGD:621641 102642 2.3.1.26 HGNC:11177 "ENST00000367619.8|NM_003101.6" +HGNC:11177 SOAT1 sterol O-acyltransferase 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "ACAT|ACAT1" acyl-Coenzyme A: cholesterol acyltransferase "SOAT|STAT" sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 1998-11-04 2008-08-26 2023-01-20 6646 ENSG00000057252 OTTHUMG00000035253 uc001gml.4 L21934 NM_003101 "CCDS58047|CCDS1330|CCDS58048" P35610 8407899 MGI:104665 RGD:621641 102642 2.3.1.26 HGNC:11177 "ENST00000367619.8|NM_003101.6" HGNC:11178 SOAT2 sterol O-acyltransferase 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 ACAT2 acyl-Coenzyme A: cholesterol acyltransferase 2 1998-10-29 2023-01-20 8435 ENSG00000167780 OTTHUMG00000169774 uc001sbv.4 AF059203 NM_003578 CCDS8847 O75908 "9756920|33412572" MGI:1332226 RGD:628865 601311 2.3.1.26 HGNC:11178 "ENST00000301466.8|NM_003578.4" HGNC:29256 SOBP sine oculis binding protein homolog protein-coding gene gene with protein product Approved 6q21 06q21 FLJ10159 sine oculis binding protein homolog (Drosophila) 2007-03-15 2015-07-02 2023-01-20 55084 ENSG00000112320 OTTHUMG00000015312 uc003prx.4 AK001021 NM_018013 CCDS43488 A7XYQ1 MGI:1924427 RGD:1560479 613667 471128 HGNC:29256 "ENST00000317357.10|NM_018013.4" HGNC:29256 HGNC:54421 SOCAR serous ovarian cancer associated RNA non-coding RNA RNA, long non-coding Approved 2q13 02q13 Long non-coding RNAs with non-systematic symbols 1992 2019-07-17 2019-07-17 105373557 ENSG00000240350 XR_001739635 31299360 HGNC:54421 @@ -36969,20 +36972,20 @@ HGNC:55683 SOD1-DT SOD1 divergent transcript non-coding RNA RNA, long non-coding HGNC:45134 SOD1P1 superoxide dismutase 1 pseudogene 1 pseudogene pseudogene Approved 6p12.1 06p12.1 superoxide dismutase 1, soluble pseudogene 1 2013-02-22 2017-01-11 2017-01-11 106479055 ENSG00000219074 OTTHUMG00000014872 NG_044539 PGOHUM00000243200 HGNC:45134 HGNC:45135 SOD1P2 superoxide dismutase 1 pseudogene 2 pseudogene pseudogene Approved 16q12.1 16q12.1 superoxide dismutase 1, soluble pseudogene 2 2013-02-22 2017-01-11 2017-01-11 100652974 ENSG00000261282 OTTHUMG00000173288 NG_032733 PGOHUM00000249130 HGNC:45135 HGNC:45136 SOD1P3 superoxide dismutase 1 pseudogene 3 pseudogene pseudogene Approved 8q24.13 08q24.13 superoxide dismutase 1, soluble pseudogene 3 2013-02-22 2017-01-11 2017-01-11 101060005 ENSG00000253651 OTTHUMG00000165026 PGOHUM00000249501 -HGNC:11180 SOD2 superoxide dismutase 2 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "GClnc1|MnSOD|IPOB|GC1" "gastric cancer–associated lncRNA 1|manganese superoxide dismutase" superoxide dismutase 2, mitochondrial Superoxide dismutases 1929 1986-01-01 2017-01-11 2023-01-20 6648 ENSG00000291237 OTTHUMG00000015940 uc003qsf.6 M36693 NM_000636 "CCDS83143|CCDS83142|CCDS5265|CCDS83141|CCDS34564" P04179 19265433 MGI:98352 RGD:3732 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 147460 471130 1.15.1.1 HGNC:11180 "ENST00000538183.7|NM_000636.4" HGNC:11180 +HGNC:11180 SOD2 superoxide dismutase 2 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "GClnc1|MnSOD|IPOB|GC1" "gastric cancer–associated lncRNA 1|manganese superoxide dismutase" superoxide dismutase 2, mitochondrial Superoxide dismutases 1929 1986-01-01 2017-01-11 2023-01-20 6648 ENSG00000291237 OTTHUMG00000015940 uc003qsf.6 M36693 NM_000636 "CCDS5265|CCDS83142|CCDS34564|CCDS83143|CCDS83141" P04179 19265433 MGI:98352 RGD:3732 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 147460 471130 1.15.1.1 HGNC:11180 "ENST00000538183.7|NM_000636.4" HGNC:11180 HGNC:53445 SOD2-OT1 SOD2 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 Overlapping transcripts 1988 2017-04-19 2018-08-03 100129518 ENSG00000285427 NR_037166 HGNC:53445 HGNC:45268 SOD2P1 superoxide dismutase 2 pseudogene 1 pseudogene pseudogene Approved 1p21.1 01p21.1 superoxide dismutase 2, mitochondrial pseudogene 1 2013-03-15 2017-01-11 2017-01-11 100421046 ENSG00000234257 OTTHUMG00000010923 NG_026965 PGOHUM00000244124 HGNC:45268 HGNC:11181 SOD3 superoxide dismutase 3 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 EC-SOD Extracellular superoxide dismutase [Cu-Zn] superoxide dismutase 3, extracellular Superoxide dismutases 1929 1988-05-08 2017-01-11 2023-01-20 6649 ENSG00000109610 OTTHUMG00000128565 uc003gqz.4 NM_003102 CCDS3430 P08294 12126755 MGI:103181 RGD:3733 185490 1.15.1.1 HGNC:11181 "ENST00000382120.4|NM_003102.4" -HGNC:16111 SOGA1 suppressor of glucose, autophagy associated 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "dJ132F21.1|FLJ44670|SOGA" "suppressor of glucose by autophagy|suppressor of glucose from autophagy" "C20orf117|KIAA0889" "chromosome 20 open reading frame 117|KIAA0889" 2001-07-17 2012-02-27 2012-02-27 2023-01-20 140710 ENSG00000149639 OTTHUMG00000032395 uc002xgd.2 AK126630 NM_199181 "CCDS54459|CCDS46598" O94964 "20813965|28550165" MGI:2444575 RGD:1563627 620225 HGNC:16111 "ENST00000237536.9|NM_080627.4" +HGNC:16111 SOGA1 suppressor of glucose, autophagy associated 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "dJ132F21.1|FLJ44670|SOGA" "suppressor of glucose by autophagy|suppressor of glucose from autophagy" "C20orf117|KIAA0889" "chromosome 20 open reading frame 117|KIAA0889" 2001-07-17 2012-02-27 2012-02-27 2023-01-20 140710 ENSG00000149639 OTTHUMG00000032395 uc002xgd.2 AK126630 NM_199181 "CCDS46598|CCDS54459" O94964 "20813965|28550165" MGI:2444575 RGD:1563627 620225 HGNC:16111 "ENST00000237536.9|NM_080627.4" HGNC:21494 SOGA3 SOGA family member 3 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 dJ403A15.3 C6orf174 chromosome 6 open reading frame 174 2003-11-26 2012-02-27 2012-02-27 2023-01-20 387104 ENSG00000214338 OTTHUMG00000166438 uc063rfs.1 AK096490 NM_001012279 Q5TF21 MGI:1914662 RGD:11479453 HGNC:21494 HGNC:27845 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NOHLH|TEB2|bA100C15.3|bHLHe80|SPATA27" spermatogenesis associated 27 C9orf157 chromosome 9 open reading frame 157 Basic helix-loop-helix proteins 420 2004-05-27 2006-03-16 2006-03-16 2023-01-20 402381 ENSG00000165643 OTTHUMG00000020915 uc004cgl.4 BC031861 NM_001012415 "CCDS48054|CCDS35174" Q5JUK2 "20506135|22056784" MGI:2684956 RGD:1564440 610224 304764 HGNC:27845 "ENST00000425225.2|NM_001101677.2" HGNC:27845 HGNC:26026 SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "FLJ20449|TEB1|bHLHe81|SPATA28" spermatogenesis associated 28 Basic helix-loop-helix proteins 420 2006-03-16 2023-01-20 54937 ENSG00000120669 OTTHUMG00000016728 uc001uvj.3 AK000456 NM_017826 "CCDS9355|CCDS61309" Q9NX45 "22056784|26153894" MGI:1921684 RGD:1589577 616066 471132 HGNC:26026 "ENST00000379881.8|NM_017826.3" -HGNC:11183 SON SON DNA and RNA binding protein protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "DBP-5|NREBP|KIAA1019|BASS1|FLJ21099|FLJ33914" "NRE-binding protein|negative regulatory element-binding protein|Bax antagonist selected in Saccharomyces 1" C21orf50 SON DNA binding protein "G-patch domain containing|Minor histocompatibility antigens|MicroRNA protein coding host genes" "579|870|1691" 1994-08-05 2020-01-28 2023-03-15 6651 ENSG00000159140 OTTHUMG00000065806 uc061zrh.1 AF380181 NM_138927 "CCDS77624|CCDS74784|CCDS13631|CCDS13629" P18583 "8318737|21551269" MGI:98353 RGD:1309013 182465 471134 HGNC:11183 "ENST00000356577.10|NM_138927.4" HGNC:11183 +HGNC:11183 SON SON DNA and RNA binding protein protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "DBP-5|NREBP|KIAA1019|BASS1|FLJ21099|FLJ33914" "NRE-binding protein|negative regulatory element-binding protein|Bax antagonist selected in Saccharomyces 1" C21orf50 SON DNA binding protein "G-patch domain containing|Minor histocompatibility antigens|MicroRNA protein coding host genes" "579|870|1691" 1994-08-05 2020-01-28 2023-03-15 6651 ENSG00000159140 OTTHUMG00000065806 uc061zrh.1 AF380181 NM_138927 "CCDS13629|CCDS74784|CCDS77624|CCDS13631" P18583 "8318737|21551269" MGI:98353 RGD:1309013 182465 471134 HGNC:11183 "ENST00000356577.10|NM_138927.4" HGNC:11183 HGNC:30608 SONP1 SON pseudogene 1 pseudogene pseudogene Approved 1q23.1 01q23.1 2006-09-21 2006-09-21 148300 X63754 NG_001549 8503959 HGNC:30608 -HGNC:14565 SORBS1 sorbin and SH3 domain containing 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "FLJ12406|CAP|sh3p12|ponsin|KIAA1296" c-Cbl-associated protein SH3D5 SH3-domain protein 5 (ponsin) 2001-03-05 2002-05-08 2023-01-20 10580 ENSG00000095637 OTTHUMG00000018812 uc001kkv.4 AF136381 NM_001034954 "CCDS76327|CCDS7442|CCDS73169|CCDS76326|CCDS31252|CCDS31254|CCDS31253|CCDS31255|CCDS31256" Q9BX66 "10085297|11001060" MGI:700014 RGD:1586598 605264 HGNC:14565 "ENST00000371247.7|NM_001034954.3" -HGNC:24098 SORBS2 sorbin and SH3 domain containing 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "ARGBP2|KIAA0777" Arg/Abl interacting protein 2005-09-28 2023-01-20 8470 ENSG00000154556 OTTHUMG00000157215 uc003iyi.5 NM_003603 "CCDS47173|CCDS47176|CCDS47175|CCDS59482|CCDS47174|CCDS3845|CCDS93677|CCDS54825|CCDS93679|CCDS93678|CCDS43289" O94875 "9211900|9872452" MGI:1924574 RGD:620061 616349 HGNC:24098 "ENST00000695409.1|NM_001395207.1" -HGNC:41039 SORBS2-AS1 SORBS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 "AC093797.1|RP11-301L8.2" Antisense RNAs 1987 2022-01-05 2022-01-05 125177376 ENSG00000233110 OTTHUMG00000157217 34925460 -HGNC:30907 SORBS3 sorbin and SH3 domain containing 3 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "SCAM-1|SH3D4|vinexin" 2005-09-28 2023-01-20 10174 ENSG00000120896 OTTHUMG00000131728 uc003xbv.4 NM_005775 "CCDS6031|CCDS47824" O60504 "9885244|12510380" MGI:700013 RGD:628900 610795 HGNC:30907 "ENST00000240123.12|NM_005775.5" +HGNC:14565 SORBS1 sorbin and SH3 domain containing 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "FLJ12406|CAP|sh3p12|ponsin|KIAA1296" c-Cbl-associated protein SH3D5 SH3-domain protein 5 (ponsin) 2001-03-05 2002-05-08 2023-01-20 10580 ENSG00000095637 OTTHUMG00000018812 uc001kkv.4 AF136381 NM_001034954 "CCDS31256|CCDS31252|CCDS7442|CCDS73169|CCDS76327|CCDS76326|CCDS31254|CCDS31255|CCDS31253" Q9BX66 "10085297|11001060" MGI:700014 RGD:1586598 605264 HGNC:14565 "ENST00000371247.7|NM_001034954.3" +HGNC:24098 SORBS2 sorbin and SH3 domain containing 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "ARGBP2|KIAA0777" Arg/Abl interacting protein 2005-09-28 2023-01-20 8470 ENSG00000154556 OTTHUMG00000157215 uc003iyi.5 NM_003603 "CCDS93677|CCDS47176|CCDS59482|CCDS43289|CCDS93678|CCDS93679|CCDS47173|CCDS54825|CCDS47175|CCDS3845|CCDS47174" O94875 "9211900|9872452" MGI:1924574 RGD:620061 616349 HGNC:24098 "ENST00000695409.1|NM_001395207.1" +HGNC:41039 SORBS2-AS1 SORBS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 "AC093797.1|RP11-301L8.2" Antisense RNAs 1987 2022-01-05 2022-01-05 125177376 ENSG00000233110 OTTHUMG00000157217 NR_186082 34925460 +HGNC:30907 SORBS3 sorbin and SH3 domain containing 3 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "SCAM-1|SH3D4|vinexin" 2005-09-28 2023-01-20 10174 ENSG00000120896 OTTHUMG00000131728 uc003xbv.4 NM_005775 "CCDS47824|CCDS6031" O60504 "9885244|12510380" MGI:700013 RGD:628900 610795 HGNC:30907 "ENST00000240123.12|NM_005775.5" HGNC:16697 SORCS1 sortilin related VPS10 domain containing receptor 1 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 sortilin-related VPS10 domain containing receptor 1 2004-04-20 2016-02-01 2023-01-20 114815 ENSG00000108018 OTTHUMG00000019018 uc001kym.4 AF284756 NM_052918 CCDS7559 Q8WY21 11499680 MGI:1929666 RGD:1305910 606283 HGNC:16697 "ENST00000263054.11|NM_052918.5" HGNC:16697 HGNC:16698 SORCS2 sortilin related VPS10 domain containing receptor 2 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 KIAA1329 sortilin-related VPS10 domain containing receptor 2 MicroRNA protein coding host genes 1691 2004-04-20 2016-02-01 2023-01-20 57537 ENSG00000184985 OTTHUMG00000159981 uc003gkb.5 AB037750 NM_020777 CCDS47008 Q96PQ0 11499680 MGI:1932289 RGD:1310621 606284 HGNC:16698 "ENST00000507866.6|NM_020777.3" HGNC:16699 SORCS3 sortilin related VPS10 domain containing receptor 3 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "KIAA1059|SORCS" sortilin-related VPS10 domain containing receptor 3 2004-04-20 2016-02-01 2023-01-20 22986 ENSG00000156395 OTTHUMG00000019011 uc001kyi.1 AB028982 NM_014978 CCDS7558 Q9UPU3 11499680 MGI:1913923 RGD:1310974 606285 HGNC:16699 "ENST00000369701.8|NM_014978.3" HGNC:16699 @@ -36992,9 +36995,9 @@ HGNC:49919 SORD2P sorbitol dehydrogenase 2, pseudogene pseudogene pseudogene App HGNC:11185 SORL1 sortilin related receptor 1 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 "gp250|LR11|LRP9|SorLA|SorLA-1" LDLR relative with 11 ligand-binding repeats C11orf32 "chromosome 11 open reading frame 32|sortilin-related receptor, L(DLR class) A repeats-containing" Fibronectin type III domain containing 555 1996-12-27 2016-06-21 2023-01-20 6653 ENSG00000137642 OTTHUMG00000166057 uc001pxx.4 Y08110 NM_003105 CCDS8436 Q92673 "9157966|8940146" MGI:1202296 RGD:619914 602005 306073 HGNC:11185 "ENST00000260197.12|NM_003105.6" HGNC:11185 HGNC:55594 SORL1-AS1 SORL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.1 11q24.1 51A Antisense RNAs 1987 2021-04-28 2023-01-06 105369536 ENSG00000246790 NR_183636 22996644 HGNC:11186 SORT1 sortilin 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "Gp95|NT3" 1996-05-14 2023-01-20 6272 ENSG00000134243 OTTHUMG00000011999 uc001dxm.3 BC023542 NM_002959 "CCDS798|CCDS55618" Q99523 MGI:1338015 RGD:619999 602458 HGNC:11186 "ENST00000256637.8|NM_002959.7" -HGNC:11187 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "HGF|GF1" GINGF "gingival fibromatosis, hereditary, 1|son of sevenless homolog 1 (Drosophila)" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1993-10-27 2015-11-10 2023-01-20 6654 ENSG00000115904 OTTHUMG00000102109 uc061ikm.1 L13857 NM_005633 "CCDS92739|CCDS1802" Q07889 "8276400|10995566" MGI:98354 RGD:1310949 LRG_754|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_754.xml 182530 119781 objectId:3096 HGNC:11187 "ENST00000402219.8|NM_005633.4" HGNC:11187 +HGNC:11187 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "HGF|GF1" GINGF "gingival fibromatosis, hereditary, 1|son of sevenless homolog 1 (Drosophila)" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1993-10-27 2015-11-10 2023-01-20 6654 ENSG00000115904 OTTHUMG00000102109 uc061ikm.1 L13857 NM_005633 "CCDS1802|CCDS92739" Q07889 "8276400|10995566" MGI:98354 RGD:1310949 LRG_754|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_754.xml 182530 119781 objectId:3096 HGNC:11187 "ENST00000402219.8|NM_005633.4" HGNC:11187 HGNC:41385 SOS1-IT1 SOS1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p22.1 02p22.1 SOS1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100505911 ENSG00000229692 OTTHUMG00000153569 uc061ikr.1 SOS1-IT1 -HGNC:11188 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "son of sevenless (Drosophilia) homolog 2|son of sevenless homolog 2 (Drosophila)" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1993-10-27 2015-11-10 2023-01-20 6655 ENSG00000100485 OTTHUMG00000140292 uc001wxs.5 L13858 NM_001411020 "CCDS9697|CCDS91874" Q07890 8276400 MGI:98355 RGD:620435 601247 434401 HGNC:11188 "ENST00000216373.10|NM_006939.4" HGNC:11188 +HGNC:11188 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "son of sevenless (Drosophilia) homolog 2|son of sevenless homolog 2 (Drosophila)" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1993-10-27 2015-11-10 2023-01-20 6655 ENSG00000100485 OTTHUMG00000140292 uc001wxs.5 L13858 NM_001411020 "CCDS91874|CCDS9697" Q07890 8276400 MGI:98355 RGD:620435 601247 434401 HGNC:11188 "ENST00000216373.10|NM_006939.4" HGNC:11188 HGNC:13771 SOST sclerostin protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "VBCH|DAND6" sclerosteosis DAN family 1246 2002-02-20 2010-04-28 2023-01-20 50964 ENSG00000167941 OTTHUMG00000180888 uc002iec.1 AF326736 NM_025237 CCDS11468 Q9BQB4 "11179006|11181578" MGI:1921749 RGD:69358 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SOST|LRG_852|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_852.xml" 605740 123431 ligandId:3704 HGNC:13771 "ENST00000301691.3|NM_025237.3" HGNC:13771 HGNC:21748 SOSTDC1 sclerostin domain containing 1 protein-coding gene gene with protein product Approved 7p21.2 07p21.2 "DKFZp564D206|USAG1|DAND7" "ectodin|wise" DAN family 1246 2003-07-22 2023-01-20 25928 ENSG00000171243 OTTHUMG00000090807 uc003stg.4 AB059270 NM_015464 CCDS5360 Q6X4U4 MGI:1913292 RGD:628877 609675 HGNC:21748 "ENST00000307068.5|NM_015464.3" HGNC:27033 SOWAHA sosondowah ankyrin repeat domain family member A protein-coding gene gene with protein product Approved 5q31.1 05q31.1 ANKRD43 ankyrin repeat domain 43 Ankyrin repeat domain containing 403 2005-05-29 2012-01-12 2012-01-12 2023-01-20 134548 ENSG00000198944 OTTHUMG00000059844 uc003kxw.4 AK090823 NM_175873 CCDS43361 Q2M3V2 22234889 MGI:2687280 RGD:1564616 HGNC:27033 "ENST00000378693.4|NM_175873.6" @@ -37012,10 +37015,10 @@ HGNC:11195 SOX2 SRY-box transcription factor 2 protein-coding gene gene with pro HGNC:20209 SOX2-OT SOX2 overlapping transcript non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 "DKFZp761J1324|NCRNA00043" non-protein coding RNA 43 SOX2OT SOX2 overlapping transcript (non-protein coding) Overlapping transcripts 1988 2003-07-01 2011-08-19 2014-06-02 2018-08-09 347689 ENSG00000242808 OTTHUMG00000158186 uc062qin.1 "AL157425|AK022826" NR_004053 "12612584|19767420|28960757" MGI:2444112 616338 sox2ot SOX2-OT HGNC:20209 HGNC:11199 SOX3 SRY-box transcription factor 3 protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 PHP "panhypopituitarism|SRY (sex determining region Y)-box 3|SRY-box 3" SRY-box transcription factors 757 1993-11-30 2019-06-13 2023-01-20 6658 ENSG00000134595 OTTHUMG00000022544 uc004fbd.2 NM_005634 CCDS14669 P41225 15800844 MGI:98365 RGD:1591839 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SOX3 313430 138386 HGNC:11199 "ENST00000370536.5|NM_005634.3" HGNC:11199 HGNC:11200 SOX4 SRY-box transcription factor 4 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "SRY (sex determining region Y)-box 4|SRY-box 4" SRY-box transcription factors 757 1993-11-30 2019-06-13 2023-01-20 6659 ENSG00000124766 OTTHUMG00000016101 uc003ndi.4 AF070669 NM_003107 CCDS4547 Q06945 "8268656|9730625" MGI:98366 RGD:1309488 184430 HGNC:11200 "ENST00000244745.4|NM_003107.3" HGNC:11200 -HGNC:11201 SOX5 SRY-box transcription factor 5 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "L-SOX5|MGC35153" "SRY (sex determining region Y)-box 5|SRY-box 5" SRY-box transcription factors 757 1997-07-07 2019-06-13 2023-03-15 6660 ENSG00000134532 OTTHUMG00000169026 uc058lyf.1 AB081589 NM_006940 "CCDS41761|CCDS8699|CCDS58216|CCDS81672|CCDS58217" P35711 8812465 MGI:98367 RGD:620471 604975 317704 HGNC:11201 "ENST00000451604.7|NM_006940.6" HGNC:11201 +HGNC:11201 SOX5 SRY-box transcription factor 5 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "L-SOX5|MGC35153" "SRY (sex determining region Y)-box 5|SRY-box 5" SRY-box transcription factors 757 1997-07-07 2019-06-13 2023-03-15 6660 ENSG00000134532 OTTHUMG00000169026 uc058lyf.1 AB081589 NM_006940 "CCDS58216|CCDS8699|CCDS58217|CCDS81672|CCDS41761" P35711 8812465 MGI:98367 RGD:620471 604975 317704 HGNC:11201 "ENST00000451604.7|NM_006940.6" HGNC:11201 HGNC:53311 SOX5-AS1 SOX5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Antisense RNAs 1987 2017-03-22 2019-06-14 101928471 ENSG00000256120 OTTHUMG00000169058 NR_120472 HGNC:53311 HGNC:11202 SOX5P1 SOX5 pseudogene 1 pseudogene pseudogene Approved 8q21.3 08q21.3 SOX29 SOX5P "SRY (sex determining region Y)-box 5 pseudogene|SRY-box 5 pseudogene 1" 1997-07-07 2015-11-06 2019-06-13 2019-06-13 6661 ENSG00000254376 OTTHUMG00000163766 AF032454 NG_002726 "8812465|12194848" PGOHUM00000303297 HGNC:11202 -HGNC:16421 SOX6 SRY-box transcription factor 6 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "SRY (sex determining region Y)-box 6|SRY-box 6" "SRY-box transcription factors|MicroRNA protein coding host genes" "757|1691" 2002-02-15 2019-06-13 2023-01-20 55553 ENSG00000110693 OTTHUMG00000165876 uc001mmg.3 AF309034 NM_033326 "CCDS91447|CCDS53604|CCDS7821" P35712 11255018 MGI:98368 RGD:1309000 607257 HGNC:16421 "ENST00000683767.1|NM_001367873.1" HGNC:16421 +HGNC:16421 SOX6 SRY-box transcription factor 6 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "SRY (sex determining region Y)-box 6|SRY-box 6" "SRY-box transcription factors|MicroRNA protein coding host genes" "757|1691" 2002-02-15 2019-06-13 2023-01-20 55553 ENSG00000110693 OTTHUMG00000165876 uc001mmg.3 AF309034 NM_033326 "CCDS53604|CCDS7821|CCDS91447" P35712 11255018 MGI:98368 RGD:1309000 607257 HGNC:16421 "ENST00000683767.1|NM_001367873.1" HGNC:16421 HGNC:18196 SOX7 SRY-box transcription factor 7 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "SRY (sex determining region Y)-box 7|SRY-box 7" SRY-box transcription factors 757 2002-02-15 2019-06-13 2023-01-20 83595 ENSG00000171056 OTTHUMG00000090585 uc003wtf.5 AJ409320 NM_031439 CCDS5977 Q9BT81 11691915 MGI:98369 RGD:1310038 612202 471136 HGNC:18196 "ENST00000304501.2|NM_031439.4" HGNC:11203 SOX8 SRY-box transcription factor 8 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SRY (sex determining region Y)-box 8|SRY-box 8" SRY-box transcription factors 757 2000-03-14 2019-06-13 2023-01-20 30812 ENSG00000005513 OTTHUMG00000122101 uc002ckn.3 AF164104 NM_014587 CCDS10428 P57073 "10662550|10684944" MGI:98370 RGD:1309072 605923 HGNC:11203 "ENST00000293894.4|NM_014587.5" HGNC:11204 SOX9 SRY-box transcription factor 9 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 SRA1 "CMD1|CMPD1" "campomelic dysplasia, autosomal sex-reversal|SRY (sex determining region Y)-box 9|SRY-box 9" SRY-box transcription factors 757 1992-09-25 2019-06-13 2023-01-20 6662 ENSG00000125398 OTTHUMG00000166300 uc002jiw.4 S74506 NM_000346 CCDS11689 P48436 8348155 MGI:98371 RGD:620474 608160 119792 HGNC:11204 "ENST00000245479.3|NM_000346.4" HGNC:11204 @@ -37032,22 +37035,22 @@ HGNC:11197 SOX21 SRY-box transcription factor 21 protein-coding gene gene with p HGNC:39807 SOX21-AS1 SOX21 antisense divergent transcript 1 non-coding RNA RNA, long non-coding Approved 13q32.1 13q32.1 "SOX21 antisense RNA 1 (non-protein coding)|SOX21 antisense RNA 1|SOX21 antisense RNA 1 (head to head)" 2011-03-29 2017-09-08 2018-08-09 100507533 ENSG00000227640 OTTHUMG00000017213 uc001vmb.3 NR_046514 "25959816|27933111|28873379" MGI:3782856 SOX21-AS1 HGNC:39807 HGNC:30635 SOX30 SRY-box transcription factor 30 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "SRY (sex determining region Y)-box 30|SRY-box 30" SRY-box transcription factors 757 2004-07-28 2019-06-13 2023-01-20 11063 ENSG00000039600 OTTHUMG00000130247 uc003lxb.1 AB022083 NM_007017 "CCDS4340|CCDS4339|CCDS78080" O94993 "15019997|11678506" MGI:1341157 RGD:1586382 606698 HGNC:30635 "ENST00000265007.11|NM_178424.2" HGNC:35122 SOX30P1 SOX30 pseudogene 1 pseudogene pseudogene Approved 5q33.3 05q33.3 "SRY (sex determining region Y)-box 30 pseudogene 1|SRY box 30 pseudogene 1|SRY-box 30 pseudogene 1" 2010-10-21 2019-06-13 2019-06-13 442142 NG_028192 PGOHUM00000235436 HGNC:35122 -HGNC:11205 SP1 Sp1 transcription factor protein-coding gene gene with protein product Approved 12q13.13 12q13.13 specificity protein 1 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 1991-06-04 2023-01-20 6667 ENSG00000185591 OTTHUMG00000170047 uc001scw.4 J03133 NM_001251825 "CCDS8857|CCDS44898" P08047 1662663 MGI:98372 RGD:3738 189906 HGNC:11205 "ENST00000327443.9|NM_138473.3" +HGNC:11205 SP1 Sp1 transcription factor protein-coding gene gene with protein product Approved 12q13.13 12q13.13 specificity protein 1 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 1991-06-04 2023-01-20 6667 ENSG00000185591 OTTHUMG00000170047 uc001scw.4 J03133 NM_001251825 "CCDS44898|CCDS8857" P08047 1662663 MGI:98372 RGD:3738 189906 HGNC:11205 "ENST00000327443.9|NM_138473.3" HGNC:11207 SP2 Sp2 transcription factor protein-coding gene gene with protein product Approved 17q21.32 17q21.32 KIAA0048 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 1993-02-10 2023-01-20 6668 ENSG00000167182 OTTHUMG00000150196 uc002imk.3 NM_003110 CCDS11521 Q02086 "1341900|9730617" MGI:1926162 RGD:1592078 601801 HGNC:11207 "ENST00000376741.5|NM_003110.6" HGNC:51341 SP2-AS1 SP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Antisense RNAs 1987 2014-10-10 2014-10-10 100506325 ENSG00000234494 OTTHUMG00000132519 "BC038442|BF673352|DA457977" NR_103856 SP2-AS1 HGNC:51341 HGNC:55330 SP2-DT SP2 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Divergent transcripts 1990 2020-10-21 2020-10-21 102724532 ENSG00000264920 NR_135480 HGNC:11208 SP3 Sp3 transcription factor protein-coding gene gene with protein product Approved 2q31.1 02q31.1 SPR-2 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 1993-02-10 2023-01-20 6670 ENSG00000172845 OTTHUMG00000132333 uc002uig.3 M97191 NM_003111 "CCDS46452|CCDS2254" Q02447 "1341900|1454515" MGI:1277166 RGD:1583765 601804 HGNC:11208 "ENST00000310015.12|NM_003111.5" HGNC:35430 SP3P Sp3 transcription factor pseudogene pseudogene pseudogene Approved 13q31.2 13q31.2 2008-12-19 2016-10-05 160824 ENSG00000225530 OTTHUMG00000017176 BC036697 NG_004748 15474306 PGOHUM00000248458 HGNC:35430 -HGNC:11209 SP4 Sp4 transcription factor protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "SPR-1|HF1B|MGC130008|MGC130009" "Zinc fingers C2H2-type|Sp transcription factors|MicroRNA protein coding host genes" "28|755|1691" 1993-09-28 2023-01-20 6671 ENSG00000105866 OTTHUMG00000094801 uc003sva.4 NM_003112 "CCDS94063|CCDS5373" Q02446 1454515 MGI:107595 RGD:3741 600540 HGNC:11209 "ENST00000222584.8|NM_003112.5" +HGNC:11209 SP4 Sp4 transcription factor protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "SPR-1|HF1B|MGC130008|MGC130009" "Zinc fingers C2H2-type|Sp transcription factors|MicroRNA protein coding host genes" "28|755|1691" 1993-09-28 2023-01-20 6671 ENSG00000105866 OTTHUMG00000094801 uc003sva.4 NM_003112 "CCDS5373|CCDS94063" Q02446 1454515 MGI:107595 RGD:3741 600540 HGNC:11209 "ENST00000222584.8|NM_003112.5" HGNC:14529 SP5 Sp5 transcription factor protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 2004-06-09 2023-01-20 389058 ENSG00000204335 OTTHUMG00000154053 uc002uge.4 NM_001003845 CCDS33322 Q6BEB4 MGI:1927715 RGD:1308499 609391 HGNC:14529 "ENST00000375281.4|NM_001003845.3" HGNC:14530 SP6 Sp6 transcription factor protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "KLF14|Epfn" epiprofin "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 2001-02-06 2023-01-20 80320 ENSG00000189120 OTTHUMG00000132067 uc002imh.2 NM_199262 CCDS11520 Q3SY56 "11087666|14551215" MGI:1932575 RGD:1306768 608613 HGNC:14530 "ENST00000536300.2|NM_001258248.2" HGNC:17321 SP7 Sp7 transcription factor protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "osterix|OSX" "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 2002-09-23 2023-01-20 121340 ENSG00000170374 OTTHUMG00000170031 uc001scv.4 AF477981 NM_001173467 "CCDS44897|CCDS73475" Q8TDD2 11792318 MGI:2153568 RGD:631377 SP7 variant database|https://oi.gene.le.ac.uk/home.php?select_db=SP7 606633 236638 HGNC:17321 "ENST00000536324.4|NM_001173467.3" HGNC:17321 HGNC:19196 SP8 Sp8 transcription factor protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 2002-09-23 2023-01-20 221833 ENSG00000164651 OTTHUMG00000094788 uc022aak.3 NM_182700 "CCDS43555|CCDS5372" Q8IXZ3 MGI:2443471 RGD:1307619 608306 471138 HGNC:19196 "ENST00000418710.3|NM_182700.6" HGNC:30690 SP9 Sp9 transcription factor protein-coding gene gene with protein product Approved 2q31.1 02q31.1 ZNF990 zinc finger protein 990 Sp9 transcription factor homolog (mouse) "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 2008-12-09 2012-12-07 2023-01-20 100131390 ENSG00000217236 OTTHUMG00000150371 uc010zem.2 NM_001145250 CCDS46453 P0CG40 MGI:3574660 RGD:1559457 HGNC:30690 "ENST00000394967.3|NM_001145250.2" -HGNC:11206 SP100 SP100 nuclear antigen protein-coding gene gene with protein product Approved 2q37.1 02q37.1 nuclear antigen Sp100 "PHD finger proteins|Bromodomain containing" "88|1232" 1994-11-25 2005-11-30 2023-01-20 6672 ENSG00000067066 OTTHUMG00000133203 uc002vqu.2 AF056322 NM_003113 "CCDS56171|CCDS56173|CCDS56170|CCDS42832|CCDS2477|CCDS56172" P23497 "2258622|8695863" MGI:109561 RGD:1359550 604585 objectId:2777 HGNC:11206 "ENST00000340126.9|NM_001080391.2" -HGNC:5401 SP110 SP110 nuclear body protein protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "IFI41|IFI75" interferon-induced protein 41, 30kD "PHD finger proteins|Minor histocompatibility antigens|Bromodomain containing" "88|870|1232" 1996-12-19 2001-12-20 2001-12-19 2023-01-20 3431 ENSG00000135899 OTTHUMG00000133204 uc002vqg.5 L22343 NM_080424 "CCDS2474|CCDS2475|CCDS54435|CCDS2476" Q9HB58 "7693701|10388521" MGI:1923364 RGD:1310173 "SP110base: Mutation registry for Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI)|http://structure.bmc.lu.se/idbase/SP110base/|LRG_109|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_109.xml" 604457 119797 objectId:2778 HGNC:5401 "ENST00000258381.11|NM_080424.4" HGNC:5401 -HGNC:17133 SP140 SP140 nuclear body protein protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "LYSP100-B|LYSP100-A" "PHD finger proteins|Bromodomain containing" "88|1232" 2001-11-07 2023-01-20 11262 ENSG00000079263 OTTHUMG00000153670 uc002vql.4 U63420 NM_007237 "CCDS63149|CCDS33392|CCDS42831|CCDS63150|CCDS63151" Q13342 "8695863|8910577|12368356" MGI:3702467 RGD:1306355 608602 objectId:2779 HGNC:17133 "ENST00000392045.8|NM_007237.5" -HGNC:25105 SP140L SP140 nuclear body protein like protein-coding gene gene with protein product Approved 2q37.1 02q37.1 SP140 nuclear body protein-like "PHD finger proteins|Bromodomain containing" "88|1232" 2008-08-15 2015-11-19 2023-01-20 93349 ENSG00000185404 OTTHUMG00000153730 uc010fxm.2 BC004921 NM_138402 "CCDS77537|CCDS46538|CCDS77536" Q9H930 26347895 MGI:3702467 617747 objectId:2780 HGNC:25105 "ENST00000415673.7|NM_138402.6" +HGNC:11206 SP100 SP100 nuclear antigen protein-coding gene gene with protein product Approved 2q37.1 02q37.1 nuclear antigen Sp100 "PHD finger proteins|Bromodomain containing" "88|1232" 1994-11-25 2005-11-30 2023-01-20 6672 ENSG00000067066 OTTHUMG00000133203 uc002vqu.2 AF056322 NM_003113 "CCDS56171|CCDS56170|CCDS42832|CCDS2477|CCDS56172|CCDS56173" P23497 "2258622|8695863" MGI:109561 RGD:1359550 604585 objectId:2777 HGNC:11206 "ENST00000340126.9|NM_001080391.2" +HGNC:5401 SP110 SP110 nuclear body protein protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "IFI41|IFI75" interferon-induced protein 41, 30kD "PHD finger proteins|Minor histocompatibility antigens|Bromodomain containing" "88|870|1232" 1996-12-19 2001-12-20 2001-12-19 2023-01-20 3431 ENSG00000135899 OTTHUMG00000133204 uc002vqg.5 L22343 NM_080424 "CCDS2476|CCDS54435|CCDS2475|CCDS2474" Q9HB58 "7693701|10388521" MGI:1923364 RGD:1310173 "SP110base: Mutation registry for Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI)|http://structure.bmc.lu.se/idbase/SP110base/|LRG_109|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_109.xml" 604457 119797 objectId:2778 HGNC:5401 "ENST00000258381.11|NM_080424.4" HGNC:5401 +HGNC:17133 SP140 SP140 nuclear body protein protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "LYSP100-B|LYSP100-A" "PHD finger proteins|Bromodomain containing" "88|1232" 2001-11-07 2023-01-20 11262 ENSG00000079263 OTTHUMG00000153670 uc002vql.4 U63420 NM_007237 "CCDS63149|CCDS42831|CCDS63151|CCDS33392|CCDS63150" Q13342 "8695863|8910577|12368356" MGI:3702467 RGD:1306355 608602 objectId:2779 HGNC:17133 "ENST00000392045.8|NM_007237.5" +HGNC:25105 SP140L SP140 nuclear body protein like protein-coding gene gene with protein product Approved 2q37.1 02q37.1 SP140 nuclear body protein-like "PHD finger proteins|Bromodomain containing" "88|1232" 2008-08-15 2015-11-19 2023-01-20 93349 ENSG00000185404 OTTHUMG00000153730 uc010fxm.2 BC004921 NM_138402 "CCDS46538|CCDS77537|CCDS77536" Q9H930 26347895 MGI:3702467 617747 objectId:2780 HGNC:25105 "ENST00000415673.7|NM_138402.6" HGNC:11210 SPA17 sperm autoantigenic protein 17 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "SP17|CT22" cancer/testis antigen 22 2000-05-02 2023-01-20 53340 ENSG00000064199 OTTHUMG00000165927 uc058ird.1 AF334735 NM_017425 CCDS8450 Q15506 8688458 MGI:1333778 RGD:620154 608621 HGNC:11210 "ENST00000227135.7|NM_017425.4" HGNC:23224 SPA17P1 sperm autoantigenic protein 17 pseudogene 1 pseudogene pseudogene Approved 10q22.2 10q22.2 Sp17-2 2003-10-20 2016-10-05 171424 ENSG00000236797 OTTHUMG00000018525 AF335424 NG_001328 12393185 PGOHUM00000238544 HGNC:23224 HGNC:27244 SPAAR small regulatory polypeptide of amino acid response protein-coding gene gene with protein product Approved 9p13.3 09p13.3 SPAR small regulatory polypeptide of amino acids response LINC00961 long intergenic non-protein coding RNA 961 2013-06-07 2017-01-11 2017-01-11 2023-01-20 158376 ENSG00000235387 OTTHUMG00000019887 NM_001348107 CCDS94407 A0A1B0GVQ0 "28024296|34946813" MGI:1918656 RGD:41374908 617627 HGNC:27244 "ENST00000443779.3|NM_001348107.3" @@ -37060,19 +37063,19 @@ HGNC:27113 SPACA6 sperm acrosome associated 6 protein-coding gene gene with prot HGNC:49383 SPACA6-AS1 SPACA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 "LINC01129|SPACA6P-AS" "long intergenic non-protein coding RNA 1129|SPACA6P antisense RNA" Antisense RNAs 1987 2013-10-18 2021-06-17 2021-06-17 2021-06-17 102238594 ENSG00000269959 OTTHUMG00000183887 AK125996 NR_108100 SPACA6P-AS HGNC:49383 HGNC:29575 SPACA7 sperm acrosome associated 7 protein-coding gene gene with protein product Approved 13q34 13q34 C13orf28 chromosome 13 open reading frame 28 2006-08-04 2011-03-15 2011-03-15 2023-01-20 122258 ENSG00000153498 OTTHUMG00000017365 uc001vsd.3 BC016750 NM_145248 CCDS9524 Q96KW9 22495889 MGI:1925884 RGD:1597409 HGNC:29575 "ENST00000283550.8|NM_145248.5" HGNC:55609 SPACA7BP SPACA7 family member B, pseudogene pseudogene pseudogene Approved 13q34 13q34 GC14 2021-06-17 2021-06-17 105370364 ENSG00000275989 MGI:1923663 -HGNC:1367 SPACA9 sperm acrosome associated 9 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 Mast C9orf9 chromosome 9 open reading frame 9 1999-08-23 2016-04-22 2016-04-22 2023-01-20 11092 ENSG00000165698 OTTHUMG00000020847 uc004cby.2 NM_018956 "CCDS83434|CCDS6955" Q96E40 24256100 MGI:1917237 RGD:727909 618552 HGNC:1367 "ENST00000356311.10|NM_001316897.2" +HGNC:1367 SPACA9 sperm acrosome associated 9 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 Mast C9orf9 chromosome 9 open reading frame 9 1999-08-23 2016-04-22 2016-04-22 2023-01-20 11092 ENSG00000165698 OTTHUMG00000020847 uc004cby.2 NM_018956 "CCDS6955|CCDS83434" Q96E40 24256100 MGI:1917237 RGD:727909 618552 HGNC:1367 "ENST00000356311.10|NM_001316897.2" HGNC:22135 SPACDR sperm acrosome developmental regulator protein-coding gene gene with protein product Approved 7q22.1 07q22.1 IMAGE:4839025 C7orf61 chromosome 7 open reading frame 61 2008-07-18 2022-02-04 2022-02-04 2023-01-20 402573 ENSG00000185955 OTTHUMG00000150234 uc003uuz.1 NM_001004323 CCDS47661 Q8IZ16 "31806366|33108537|31985809" MGI:1926079 RGD:11442159 619782 HGNC:22135 "ENST00000332375.4|NM_001004323.3" HGNC:55808 SPADH spermadhesin family member protein-coding gene gene with protein product Approved 10q26.13 10q26.13 2022-09-26 2023-01-20 112577516 ENSG00000286135 NM_001364461 CCDS91369 A0A494C103 15922517 HGNC:11212 SPAG1 sperm associated antigen 1 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "SP75|FLJ32920|HSD-3.8|TPIS|CT140|CILD28|DNAAF13" dynein axonemal assembly factor 13 "Tetratricopeptide repeat domain containing|Axonemal dynein assembly factors|R2SP complex" "769|1627|2007" 1997-09-12 2023-01-20 6674 ENSG00000104450 OTTHUMG00000164706 uc003yjh.3 AF311312 NM_172218 CCDS34930 Q07617 "16368546|24055112" MGI:1349387 RGD:1310702 603395 367631 HGNC:11212 "ENST00000388798.7|NM_003114.5" HGNC:11212 HGNC:11214 SPAG4 sperm associated antigen 4 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "SUN4|CT127" "acrosomal protein ACR55|Sad1 and UNC84 domain containing 4|cancer/testis antigen 127" SUN family 1968 1998-08-26 2023-01-20 6676 ENSG00000061656 OTTHUMG00000032352 uc002xdb.2 AF043344 NM_003116 "CCDS93032|CCDS13259" Q9NPE6 "9691178|10373309" MGI:2444120 RGD:620151 603038 HGNC:11214 "ENST00000374273.8|NM_003116.3" HGNC:13452 SPAG5 sperm associated antigen 5 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "DEEPEST|MAP126|hMAP126" "mitotic spindle coiled-coil related protein|astrin|mitotic spindle associated protein p126" 2002-10-08 2023-01-20 10615 ENSG00000076382 OTTHUMG00000166586 uc002hbq.4 AF063308 NM_006461 CCDS32594 Q96R06 11549262 MGI:1927470 RGD:620152 615562 HGNC:13452 "ENST00000321765.10|NM_006461.4" HGNC:41140 SPAG5-AS1 SPAG5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q11.2 17q11.2 SPAG5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-05 2012-08-15 2020-01-30 100506436 ENSG00000227543 OTTHUMG00000132827 uc060daj.1 NR_040012 31957155 SPAG5-AS1 HGNC:41140 -HGNC:11215 SPAG6 sperm associated antigen 6 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "Repro-SA-1|PF16|CT141|FAP194|CFAP194" axoneme central apparatus protein "Armadillo repeat containing|Cilia and flagella associated" "409|1491" 1999-04-23 2023-01-20 9576 ENSG00000077327 OTTHUMG00000017808 uc001iri.4 AF079363 NM_001253854 "CCDS7140|CCDS73072|CCDS7139|CCDS58071" O75602 "10493827|24071998" MGI:3040687 RGD:1305616 605730 HGNC:11215 "ENST00000376624.8|NM_012443.4" +HGNC:11215 SPAG6 sperm associated antigen 6 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "Repro-SA-1|PF16|CT141|FAP194|CFAP194" axoneme central apparatus protein "Armadillo repeat containing|Cilia and flagella associated" "409|1491" 1999-04-23 2023-01-20 9576 ENSG00000077327 OTTHUMG00000017808 uc001iri.4 AF079363 NM_001253854 "CCDS58071|CCDS7139|CCDS7140|CCDS73072" O75602 "10493827|24071998" MGI:3040687 RGD:1305616 605730 HGNC:11215 "ENST00000376624.8|NM_012443.4" HGNC:11216 SPAG7 sperm associated antigen 7 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FSA-1|ACRP|MGC20134" 1999-05-28 2023-01-20 9552 ENSG00000091640 OTTHUMG00000177733 uc002gae.4 AF047437 NM_004890 CCDS42240 O75391 9653160 MGI:107380 RGD:1305473 610056 HGNC:11216 "ENST00000206020.8|NM_004890.3" -HGNC:14105 SPAG8 sperm associated antigen 8 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "hSMP-1|HSD-1|BS-84|SPAG3|CT142" 2001-01-10 2023-03-15 26206 ENSG00000137098 OTTHUMG00000019875 uc003zye.4 U12978 NM_012436 "CCDS43798|CCDS6592" Q99932 "10500252|8788182" MGI:3056295 RGD:1307079 605731 HGNC:14105 "ENST00000396638.7|NM_001039592.2" -HGNC:14524 SPAG9 sperm associated antigen 9 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "HSS|SYD1|KIAA0516|MGC14967|MGC74461|MGC117291|JLP|PHET|HLC4|FLJ13450|FLJ14006|FLJ26141|FLJ34602|CT89|JIP4|JIP-4|PIG6" "sperm surface protein|JNK/SAPK-associated protein|JNK interacting protein|sperm specific protein|c-Jun NH2-terminal kinase-associated leucine zipper protein|Max-binding protein|JNK-associated leucine-zipper protein|HLC-4 protein|lung cancer oncogene 4|proliferation-inducing gene 6|cancer/testis antigen 89" 2001-02-09 2023-01-20 9043 ENSG00000008294 OTTHUMG00000162316 uc002itb.4 AB011088 NM_003971 "CCDS58577|CCDS58578|CCDS45740|CCDS11577" O60271 "9480848|11106729" MGI:1918084 RGD:1311289 605430 HGNC:14524 "ENST00000262013.12|NM_001130528.3" HGNC:14524 -HGNC:33342 SPAG11A sperm associated antigen 11A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "HE2|EDDM2A" epididymal protein 2A 2007-03-15 2007-03-15 2023-01-20 653423 ENSG00000178287 OTTHUMG00000162440 uc003wrw.4 NM_001081552 "CCDS87575|CCDS43700|CCDS94257" Q6PDA7 RGD:2324475 HGNC:33342 "ENST00000642566.2|NM_001395484.1" -HGNC:14534 SPAG11B sperm associated antigen 11B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "HE2|EP2|EP2C|EP2D|EDDM2B" epididymal protein 2B 2001-02-22 2007-03-15 2007-03-15 2023-03-15 10407 ENSG00000164871 OTTHUMG00000129219 uc003wrm.4 AF168616 "NM_058202|NM_058200|NM_058201|NM_016512|NM_058203|NM_058206|NM_058207" "CCDS5965|CCDS5966|CCDS5967|CCDS5964|CCDS47774" Q08648 "8167223|1693137" MGI:3647173 RGD:1562239 606560 ligandId:10542 HGNC:14534 "ENST00000398462.7|NM_058201.4" +HGNC:14105 SPAG8 sperm associated antigen 8 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "hSMP-1|HSD-1|BS-84|SPAG3|CT142" 2001-01-10 2023-03-15 26206 ENSG00000137098 OTTHUMG00000019875 uc003zye.4 U12978 NM_012436 "CCDS6592|CCDS43798" Q99932 "10500252|8788182" MGI:3056295 RGD:1307079 605731 HGNC:14105 "ENST00000396638.7|NM_001039592.2" +HGNC:14524 SPAG9 sperm associated antigen 9 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "HSS|SYD1|KIAA0516|MGC14967|MGC74461|MGC117291|JLP|PHET|HLC4|FLJ13450|FLJ14006|FLJ26141|FLJ34602|CT89|JIP4|JIP-4|PIG6" "sperm surface protein|JNK/SAPK-associated protein|JNK interacting protein|sperm specific protein|c-Jun NH2-terminal kinase-associated leucine zipper protein|Max-binding protein|JNK-associated leucine-zipper protein|HLC-4 protein|lung cancer oncogene 4|proliferation-inducing gene 6|cancer/testis antigen 89" 2001-02-09 2023-01-20 9043 ENSG00000008294 OTTHUMG00000162316 uc002itb.4 AB011088 NM_003971 "CCDS58578|CCDS58577|CCDS45740|CCDS11577" O60271 "9480848|11106729" MGI:1918084 RGD:1311289 605430 HGNC:14524 "ENST00000262013.12|NM_001130528.3" HGNC:14524 +HGNC:33342 SPAG11A sperm associated antigen 11A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "HE2|EDDM2A" epididymal protein 2A 2007-03-15 2007-03-15 2023-01-20 653423 ENSG00000178287 OTTHUMG00000162440 uc003wrw.4 NM_001081552 "CCDS94257|CCDS87575|CCDS43700" Q6PDA7 RGD:2324475 HGNC:33342 "ENST00000642566.2|NM_001395484.1" +HGNC:14534 SPAG11B sperm associated antigen 11B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "HE2|EP2|EP2C|EP2D|EDDM2B" epididymal protein 2B 2001-02-22 2007-03-15 2007-03-15 2023-03-15 10407 ENSG00000164871 OTTHUMG00000129219 uc003wrm.4 AF168616 "NM_058202|NM_058200|NM_058201|NM_016512|NM_058203|NM_058206|NM_058207" "CCDS5966|CCDS5967|CCDS5964|CCDS5965|CCDS47774" Q08648 "8167223|1693137" MGI:3647173 RGD:1562239 606560 ligandId:10542 HGNC:14534 "ENST00000398462.7|NM_058201.4" HGNC:23225 SPAG16 sperm associated antigen 16 protein-coding gene gene with protein product Approved 2q34 02q34 "PF20|FLJ22724|DKFZp666P1710|WDR29" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2004-10-13 2023-01-20 79582 ENSG00000144451 OTTHUMG00000133015 uc002veq.5 AF310672 NM_024532 "CCDS2396|CCDS46508" Q8N0X2 "12391165|11867345" MGI:1913972 RGD:1565062 612173 HGNC:23225 "ENST00000331683.10|NM_024532.5" HGNC:52674 SPAG16-DT SPAG16 divergent transcript non-coding RNA RNA, long non-coding Approved 2q34 02q34 Divergent transcripts 1990 2019-05-17 2019-05-17 100130451 ENSG00000196096 OTTHUMG00000154847 NR_144752 HGNC:52674 HGNC:26620 SPAG17 sperm associated antigen 17 protein-coding gene gene with protein product Approved 1p12 01p12 "FLJ34497|PF6|RP4-776P7.2|CT143" 2005-08-11 2023-01-20 200162 ENSG00000155761 OTTHUMG00000012198 uc001ehk.3 NM_206996 CCDS899 Q6Q759 MGI:1921612 RGD:1592218 616554 HGNC:26620 "ENST00000336338.10|NM_206996.4" HGNC:26620 @@ -37088,11 +37091,11 @@ HGNC:33175 SPANXN2 SPANX family member N2 protein-coding gene gene with protein HGNC:33176 SPANXN3 SPANX family member N3 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "SPANX-N3|CT11.8" cancer/testis antigen family 11, member 8 SPANX family, member N3 SPANX family 1834 2006-11-13 2015-11-18 2023-01-20 139067 ENSG00000189252 OTTHUMG00000022582 uc004fbw.4 NM_001009609 CCDS35418 Q5MJ09 "14973187|17012309" 300666 HGNC:33176 "ENST00000370503.2|NM_001009609.4" HGNC:33177 SPANXN4 SPANX family member N4 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "SPANX-N4|CT11.9" cancer/testis antigen family 11, member 9 SPANX family, member N4 SPANX family 1834 2006-11-13 2015-11-18 2023-01-20 441525 ENSG00000189326 OTTHUMG00000022575 uc004fbv.4 DQ336126 NM_001009613 CCDS48178 Q5MJ08 "14973187|17012309" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SPANXN4 300667 HGNC:33177 "ENST00000446864.2|NM_001009613.4" HGNC:33178 SPANXN5 SPANX family member N5 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "SPANX-N5|CT11.10" cancer/testis antigen family 11, member 10 SPANX family, member N5 SPANX family 1834 2006-11-13 2015-11-18 2023-01-20 494197 ENSG00000204363 OTTHUMG00000021590 uc004drc.2 NM_001009616 CCDS35295 Q5MJ07 "14973187|17012309" 300668 HGNC:33178 "ENST00000375511.4|NM_001009616.4" -HGNC:11219 SPARC secreted protein acidic and cysteine rich protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "ONT|BM-40" "cysteine-rich protein|secreted protein acidic and rich in cysteine" ON osteonectin SPARC family 1278 2001-06-22 2016-01-28 2023-01-20 6678 ENSG00000113140 OTTHUMG00000130122 uc003lui.5 NM_003118 CCDS4318 P09486 "2838412|3410046" MGI:98373 RGD:3742 182120 434708 HGNC:11219 "ENST00000231061.9|NM_003118.4" HGNC:11219 -HGNC:11220 SPARCL1 SPARC like 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 MAST9 hevin SPARC-like 1 (mast9, hevin) SPARC family 1278 1998-09-17 2015-11-13 2023-01-20 8404 ENSG00000152583 OTTHUMG00000130605 uc003hqs.5 X86693 NM_001128310 "CCDS3622|CCDS77939" Q14515 "8488563|7600298|16844696" MGI:108110 RGD:2531 606041 HGNC:11220 "ENST00000282470.11|NM_004684.6" +HGNC:11219 SPARC secreted protein acidic and cysteine rich protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "ONT|BM-40" "cysteine-rich protein|secreted protein acidic and rich in cysteine" ON osteonectin "SPARC family|Secretory calcium-binding phosphoprotein family" "1278|2245" 2001-06-22 2016-01-28 2023-01-20 6678 ENSG00000113140 OTTHUMG00000130122 uc003lui.5 NM_003118 CCDS4318 P09486 "2838412|3410046" MGI:98373 RGD:3742 182120 434708 HGNC:11219 "ENST00000231061.9|NM_003118.4" HGNC:11219 +HGNC:11220 SPARCL1 SPARC like 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 MAST9 hevin SPARC-like 1 (mast9, hevin) "SPARC family|Secretory calcium-binding phosphoprotein family" "1278|2245" 1998-09-17 2015-11-13 2023-01-20 8404 ENSG00000152583 OTTHUMG00000130605 uc003hqs.5 X86693 NM_001128310 "CCDS3622|CCDS77939" Q14515 "8488563|7600298|16844696" MGI:108110 RGD:2531 606041 HGNC:11220 "ENST00000282470.11|NM_004684.6" HGNC:18514 SPART spartin protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "KIAA0610|TAHCCP1" spartin SPG20 spastic paraplegia 20 (Troyer syndrome) 2003-01-20 2017-05-30 2017-05-30 2023-01-20 23111 ENSG00000133104 OTTHUMG00000016730 uc001uvq.4 AB011182 NM_001142294 CCDS9356 Q8N0X7 "6022528|12134148" MGI:2139806 RGD:1305900 607111 119811 HGNC:18514 "ENST00000438666.7|NM_015087.5" HGNC:18514 HGNC:39933 SPART-AS1 SPART antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 "C13orf43|SPG20OS|SPG20-AS1" "chromosome 13 open reading frame 43|SPG20 opposite strand|SPG20 antisense RNA 1" Antisense RNAs 1987 2011-04-12 2017-06-29 2017-06-29 2017-06-29 100507135 ENSG00000120664 OTTHUMG00000016732 NR_045180 P0CW21 SPG20-AS1 HGNC:39933 -HGNC:11233 SPAST spastin protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "FSP2|ADPSP|KIAA1083" SPG4 spastic paraplegia 4 (autosomal dominant; spastin) AAA ATPases 413 1993-10-28 2005-03-17 2005-03-15 2023-01-20 6683 ENSG00000021574 OTTHUMG00000128455 uc002roc.4 AJ246001 NM_199436 "CCDS86830|CCDS1779|CCDS92732|CCDS1778" Q9UBP0 "10493830|10610178" MGI:1858896 RGD:1308494 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_714|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_714.xml" 604277 119801 HGNC:11233 "ENST00000315285.9|NM_014946.4" HGNC:11233 +HGNC:11233 SPAST spastin protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "FSP2|ADPSP|KIAA1083" SPG4 spastic paraplegia 4 (autosomal dominant; spastin) AAA ATPases 413 1993-10-28 2005-03-17 2005-03-15 2023-01-20 6683 ENSG00000021574 OTTHUMG00000128455 uc002roc.4 AJ246001 NM_199436 "CCDS86830|CCDS1779|CCDS1778|CCDS92732" Q9UBP0 "10493830|10610178" MGI:1858896 RGD:1308494 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_714|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_714.xml" 604277 119801 HGNC:11233 "ENST00000315285.9|NM_014946.4" HGNC:11233 HGNC:14682 SPATA1 spermatogenesis associated 1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 SP-2 2001-03-01 2023-03-15 100505741 ENSG00000122432 OTTHUMG00000009924 AF306347 NM_022354 CCDS90993 Q5VX52 MGI:1918201 RGD:1359500 HGNC:14682 "ENST00000699524.1|NM_001397487.1" HGNC:14681 SPATA2 spermatogenesis associated 2 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "KIAA0757|PD1|tamo|PPP1R145" protein phosphatase 1, regulatory subunit 145 Protein phosphatase 1 regulatory subunits 694 2001-03-15 2023-01-20 9825 ENSG00000158480 OTTHUMG00000032704 uc002xuw.5 AB018300 NM_006038 CCDS13422 Q9UM82 MGI:2146885 RGD:620754 607662 471140 HGNC:14681 "ENST00000289431.10|NM_006038.4" HGNC:28393 SPATA2L spermatogenesis associated 2 like protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "MGC26885|tamo" C16orf76 chromosome 16 open reading frame 76 2006-07-04 2007-01-30 2016-01-14 2023-01-20 124044 ENSG00000158792 OTTHUMG00000138047 uc002foj.4 AF070574 NM_152339 CCDS10985 Q8IUW3 8619474 MGI:1926029 RGD:1560840 HGNC:28393 "ENST00000289805.10|NM_152339.4" @@ -37100,14 +37103,14 @@ HGNC:39446 SPATA2P1 spermatogenesis associated 2 pseudogene 1 pseudogene pseudog HGNC:17884 SPATA3 spermatogenesis associated 3 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 TSARG1 2002-01-25 2023-01-20 130560 ENSG00000173699 OTTHUMG00000133221 uc061tla.1 AY032925 NM_139073 CCDS2481 Q8NHX4 MGI:1917310 RGD:1308164 619857 HGNC:17884 "ENST00000433428.7|NM_139073.5" HGNC:17884 HGNC:28013 SPATA3-AS1 SPATA3 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 2q37.1 02q37.1 Antisense RNAs 1987 2013-10-14 2014-11-19 348761 ENSG00000238062 OTTHUMG00000154076 NR_033879 12477932 SPATA3-AS1 HGNC:28013 HGNC:17333 SPATA4 spermatogenesis associated 4 protein-coding gene gene with protein product Approved 4q34.2 04q34.2 "TSARG2|SPEF1B|FAP178|CFAP178" Cilia and flagella associated 1491 2002-01-25 2023-01-20 132851 ENSG00000150628 OTTHUMG00000160788 uc003iuo.2 AY040204 NM_144644 CCDS3826 Q8NEY3 23604077 MGI:1916531 RGD:1303065 609879 HGNC:17333 "ENST00000280191.7|NM_144644.4" -HGNC:18309 SPATA6 spermatogenesis associated 6 protein-coding gene gene with protein product Approved 1p33 01p33 "SRF1|FLJ10007|SRF-1" spermatogenesis-related factor-1 2002-02-28 2023-01-20 54558 ENSG00000132122 OTTHUMG00000007794 uc001crr.4 AK000869 NM_019073 "CCDS72787|CCDS551|CCDS65535" Q9NWH7 MGI:1915196 RGD:628657 613947 HGNC:18309 "ENST00000371847.8|NM_019073.4" +HGNC:18309 SPATA6 spermatogenesis associated 6 protein-coding gene gene with protein product Approved 1p33 01p33 "SRF1|FLJ10007|SRF-1" spermatogenesis-related factor-1 2002-02-28 2023-01-20 54558 ENSG00000132122 OTTHUMG00000007794 uc001crr.4 AK000869 NM_019073 "CCDS551|CCDS72787|CCDS65535" Q9NWH7 MGI:1915196 RGD:628657 613947 HGNC:18309 "ENST00000371847.8|NM_019073.4" HGNC:25472 SPATA6L spermatogenesis associated 6 like protein-coding gene gene with protein product Approved 9p24.2-p24.1 09p24.2-p24.1 FLJ10058 C9orf68 chromosome 9 open reading frame 68 2004-01-06 2012-03-15 2016-01-14 2023-01-20 55064 ENSG00000106686 OTTHUMG00000019469 uc011llz.3 AK000920 NM_017985 "CCDS6453|CCDS43785" Q8N4H0 MGI:1918036 RGD:1310039 HGNC:25472 "ENST00000682582.1|NM_001353486.2" -HGNC:20423 SPATA7 spermatogenesis associated 7 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 HSD3 LCA3 Leber congenital amaurosis 3 2003-03-07 2023-01-20 55812 ENSG00000042317 OTTHUMG00000170744 uc001xwq.5 AF144487 NM_001040428 "CCDS9883|CCDS32132" Q9P0W8 "9799089|19268277" MGI:2144877 RGD:621010 609868 178826 HGNC:20423 "ENST00000393545.9|NM_018418.5" HGNC:20423 +HGNC:20423 SPATA7 spermatogenesis associated 7 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 HSD3 LCA3 Leber congenital amaurosis 3 2003-03-07 2023-01-20 55812 ENSG00000042317 OTTHUMG00000170744 uc001xwq.5 AF144487 NM_001040428 "CCDS32132|CCDS9883" Q9P0W8 "9799089|19268277" MGI:2144877 RGD:621010 609868 178826 HGNC:20423 "ENST00000393545.9|NM_018418.5" HGNC:20423 HGNC:28676 SPATA8 spermatogenesis associated 8 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 "MGC44294|SRG8" spermatogenesis-related gene 8 Long non-coding RNAs with non-systematic symbols 1992 2005-01-10 2023-03-15 145946 ENSG00000185594 OTTHUMG00000149847 uc002bue.4 AY489187 NR_158223 Q6RVD6 16809841 613948 HGNC:28676 HGNC:48627 SPATA8-AS1 SPATA8 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 Antisense RNAs 1987 2013-05-29 2013-05-29 100652749 ENSG00000259282 OTTHUMG00000172033 NR_102753 SPATA8-AS1 HGNC:48627 HGNC:22988 SPATA9 spermatogenesis associated 9 protein-coding gene gene with protein product Approved 5q15 05q15 "NYD-SP16|FLJ35906" 2003-09-01 2023-01-20 83890 ENSG00000145757 OTTHUMG00000121169 uc003klj.2 AK093225 NM_031952 CCDS4076 Q9BWV2 12493713 MGI:1922821 RGD:1308291 608039 HGNC:22988 "ENST00000274432.13|NM_031952.4" HGNC:23221 SPATA12 spermatogenesis associated 12 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 2003-10-22 2023-01-20 353324 ENSG00000186451 OTTHUMG00000158862 uc003dij.1 AY221117 NM_181727 CCDS2879 Q7Z6I5 "22981541|17251597" 609869 HGNC:23221 "ENST00000334325.2|NM_181727.2" -HGNC:23222 SPATA13 spermatogenesis associated 13 protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "FLJ31208|ARHGEF29|ASEF2" APC stimulated guanine nucleotide exchange factor 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs|MicroRNA protein coding host genes" "682|722|1691" 2003-10-20 2023-01-20 221178 ENSG00000182957 OTTHUMG00000016578 uc001upg.4 AK055770 NM_153023 "CCDS53857|CCDS73553|CCDS9305|CCDS66518|CCDS66517" Q96N96 MGI:104838 RGD:1307364 613324 HGNC:23222 "ENST00000382108.8|NM_001166271.3" +HGNC:23222 SPATA13 spermatogenesis associated 13 protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "FLJ31208|ARHGEF29|ASEF2" APC stimulated guanine nucleotide exchange factor 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs|MicroRNA protein coding host genes" "682|722|1691" 2003-10-20 2023-01-20 221178 ENSG00000182957 OTTHUMG00000016578 uc001upg.4 AK055770 NM_153023 "CCDS66517|CCDS53857|CCDS9305|CCDS73553|CCDS66518" Q96N96 MGI:104838 RGD:1307364 613324 HGNC:23222 "ENST00000382108.8|NM_001166271.3" HGNC:39905 SPATA13-AS1 SPATA13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 SPATA13 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874231 ENSG00000227213 OTTHUMG00000016580 uc031qkt.1 NR_046531 SPATA13-AS1 HGNC:39905 HGNC:29935 SPATA16 spermatogenesis associated 16 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 NYD-SP12 2005-01-25 2023-01-20 83893 ENSG00000144962 OTTHUMG00000156865 uc003fin.5 AF345909 NM_031955 CCDS3221 Q9BXB7 "12529416|17847006" MGI:1918112 RGD:1563726 609856 181121 HGNC:29935 "ENST00000351008.4|NM_031955.6" HGNC:29935 HGNC:25184 SPATA17 spermatogenesis associated 17 protein-coding gene gene with protein product Approved 1q41 01q41 "IQCH|MOT17|FAP305|CFAP305" IQ motif containing H Cilia and flagella associated 1491 2006-03-24 2023-01-20 128153 ENSG00000162814 OTTHUMG00000037875 uc001hlh.2 AK098591 NM_138796 CCDS1519 Q96L03 16395525 MGI:1921967 RGD:1565282 611032 HGNC:25184 "ENST00000366933.5|NM_138796.4" @@ -37116,8 +37119,8 @@ HGNC:29579 SPATA18 spermatogenesis associated 18 protein-coding gene gene with p HGNC:30614 SPATA19 spermatogenesis associated 19 protein-coding gene gene with protein product Approved 11q25 11q25 "FLJ25851|spergen1|SPAS1|CT132" "spergen 1|cancer/testis antigen 132" 2005-05-24 2023-01-20 219938 ENSG00000166118 OTTHUMG00000167120 uc001qgv.2 AK098717 NM_174927 CCDS8493 Q7Z5L4 "12688595|26265198" MGI:1922719 RGD:620628 609805 HGNC:30614 "ENST00000299140.8|NM_174927.3" HGNC:26125 SPATA20 spermatogenesis associated 20 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ21347|SSP411|Tisp78" hypothetical protein FLJ21347 2005-05-25 2023-01-20 64847 ENSG00000006282 OTTHUMG00000162162 uc002ird.4 NM_022827 "CCDS58564|CCDS58563|CCDS11571" Q8TB22 23118872 MGI:2183449 RGD:735087 613939 HGNC:26125 "ENST00000006658.11|NM_022827.4" HGNC:39636 SPATA20P1 spermatogenesis associated 20 pseudogene 1 pseudogene pseudogene Approved 21q22.13 21q22.13 2011-03-17 2011-03-17 100874060 ENSG00000231123 OTTHUMG00000090612 NG_032331 PGOHUM00000239082 HGNC:39636 -HGNC:28026 SPATA21 spermatogenesis associated 21 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "spergen-2|spergen2" EF-hand domain containing 863 2005-07-13 2023-01-20 374955 ENSG00000187144 OTTHUMG00000002312 uc001ayn.3 NM_198546 "CCDS172|CCDS85935" Q7Z572 MGI:3607787 RGD:1302954 HGNC:28026 "ENST00000335496.5|NM_198546.1" -HGNC:30705 SPATA22 spermatogenesis associated 22 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 NYD-SP20 2005-12-19 2023-01-20 84690 ENSG00000141255 OTTHUMG00000177609 uc010vrg.4 AY035868 NM_032598 "CCDS54066|CCDS11027|CCDS54067|CCDS82036" Q8NHS9 28453612 MGI:2685728 RGD:1565378 617673 HGNC:30705 "ENST00000572969.6|NM_001170698.2" +HGNC:28026 SPATA21 spermatogenesis associated 21 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "spergen-2|spergen2" EF-hand domain containing 863 2005-07-13 2023-01-20 374955 ENSG00000187144 OTTHUMG00000002312 uc001ayn.3 NM_198546 "CCDS85935|CCDS172" Q7Z572 MGI:3607787 RGD:1302954 HGNC:28026 "ENST00000335496.5|NM_198546.1" +HGNC:30705 SPATA22 spermatogenesis associated 22 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 NYD-SP20 2005-12-19 2023-01-20 84690 ENSG00000141255 OTTHUMG00000177609 uc010vrg.4 AY035868 NM_032598 "CCDS11027|CCDS82036|CCDS54066|CCDS54067" Q8NHS9 28453612 MGI:2685728 RGD:1565378 617673 HGNC:30705 "ENST00000572969.6|NM_001170698.2" HGNC:27322 SPATA24 spermatogenesis associated 24 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "T6441|CCDC161" coiled-coil domain containing 161 2009-09-30 2009-09-30 2023-01-20 202051 ENSG00000170469 OTTHUMG00000163388 uc003lek.3 AK098740 NM_194296 CCDS47274 Q86W54 16146721 MGI:1918492 RGD:1311742 HGNC:27322 "ENST00000450845.7|NM_194296.2" HGNC:16158 SPATA25 spermatogenesis associated 25 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ337O18.8|TSG23" C20orf165 chromosome 20 open reading frame 165 2001-07-17 2011-11-24 2011-11-24 2023-01-20 128497 ENSG00000149634 OTTHUMG00000032628 uc002xqf.4 AL008726 NM_080608 CCDS13383 Q9BR10 19240080 MGI:1922892 RGD:1564523 618936 HGNC:16158 "ENST00000372519.4|NM_080608.4" HGNC:23394 SPATA31A1 SPATA31 subfamily A member 1 protein-coding gene gene with protein product Approved 9p12 09p12 "DKFZP434B204|C9orf36A" "C9orf36|FAM75A1|SPATA31A2|FAM75A2" "chromosome 9 open reading frame 36|family with sequence similarity 75, member A1|SPATA31 subfamily A, member 2|family with sequence similarity 75, member A2" 2003-11-14 2012-10-12 2016-06-07 2023-01-20 647060 ENSG00000204849 OTTHUMG00000013156 uc064tes.1 NM_001085452 CCDS43808 Q5TZJ5 20850414 MGI:1925374 HGNC:23394 "ENST00000377647.6|NM_001085452.4" @@ -37140,16 +37143,16 @@ HGNC:41911 SPATA31F1 SPATA31 subfamily F member 1 protein-coding gene gene with HGNC:24504 SPATA31F2P SPATA31 subfamily F member 2, pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 "DKFZp434J193|C9orf144A" "C9orf144|FAM205B|FAM205BP" "chromosome 9 open reading frame 144|family with sequence similarity 205, member B|family with sequence similarity 205, member B, pseudogene|family with sequence similarity 205 member B, pseudogene" 2006-06-30 2023-01-20 2023-01-20 2023-01-20 389715 ENSG00000257198 OTTHUMG00000019839 NR_024481 Q63HN1 "MGI:3651059|MGI:3701946|MGI:5434294|MGI:5434953" HGNC:24504 HGNC:42673 SPATA31F3 SPATA31 subfamily F member 3 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "FAM205CP|FAM205C" "family with sequence similarity 205, member C, pseudogene|family with sequence similarity 205, member C|family with sequence similarity 205 member C" 2011-08-15 2023-01-20 2023-01-20 2023-01-20 100129969 ENSG00000187791 OTTHUMG00000019841 NM_001309426 "CCDS83358|CCDS83359" A6NFA0 MGI:2679716 RGD:1561387 PGOHUM00000250492 HGNC:42673 "ENST00000340783.11|NM_001309427.2" HGNC:26349 SPATA32 spermatogenesis associated 32 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "FLJ25414|AEP2|VAD1.2" acrosome expressed 2 "C17orf46|TEX34" "chromosome 17 open reading frame 46|testis expressed 34" 2005-12-13 2012-10-08 2012-10-08 2023-01-20 124783 ENSG00000184361 OTTHUMG00000180363 uc002iis.1 AK058143 NM_152343 CCDS32669 Q96LK8 18621766 MGI:3045340 RGD:1359156 HGNC:26349 "ENST00000331780.5|NM_152343.3" -HGNC:26463 SPATA33 spermatogenesis associated 33 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 FLJ31606 C16orf55 chromosome 16 open reading frame 55 2005-04-12 2013-07-05 2013-07-05 2023-01-20 124045 ENSG00000167523 OTTHUMG00000138048 AK056168 NM_153025 "CCDS10983|CCDS73929|CCDS62012" Q96N06 23844118 MGI:2444920 RGD:1561507 615409 HGNC:26463 "ENST00000579310.6|NM_001271907.2" +HGNC:26463 SPATA33 spermatogenesis associated 33 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 FLJ31606 C16orf55 chromosome 16 open reading frame 55 2005-04-12 2013-07-05 2013-07-05 2023-01-20 124045 ENSG00000167523 OTTHUMG00000138048 AK056168 NM_153025 "CCDS73929|CCDS62012|CCDS10983" Q96N06 23844118 MGI:2444920 RGD:1561507 615409 HGNC:26463 "ENST00000579310.6|NM_001271907.2" HGNC:48613 SPATA41 spermatogenesis associated 41 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 "FLJ42289|HSD47" spermatogenesis associated 41 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-24 2018-05-16 2022-11-25 388182 ENSG00000189419 OTTHUMG00000172281 "AK057536|AK124283|BC028144|DB060272" NR_028139 36105081 SPATA41 HGNC:48613 HGNC:41198 SPATA42 spermatogenesis associated 42 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 "SRG7|AKNAD1-AS1" "spermatogenesis-related gene 7|AKNAD1 antisense RNA 1" spermatogenesis associated 42 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-06-03 2018-05-16 2022-12-05 642864 ENSG00000203897 OTTHUMG00000011731 NR_034168 32914196 SPATA42 HGNC:41198 HGNC:33709 SPATA45 spermatogenesis associated 45 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 LOC149643 C1orf227 chromosome 1 open reading frame 227 2009-03-12 2014-02-21 2014-02-21 2023-01-20 149643 ENSG00000185523 OTTHUMG00000036920 NM_001024601 CCDS31020 Q537H7 MGI:1922808 "RGD:1593182|RGD:1591344" HGNC:33709 "ENST00000332912.3|NM_001024601.3" HGNC:27648 SPATA46 spermatogenesis associated 46 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 TEKT2BP2 C1orf111 chromosome 1 open reading frame 111 2005-06-07 2016-11-17 2016-11-17 2023-01-20 284680 ENSG00000171722 OTTHUMG00000031375 uc001gbx.3 BC032957 NM_182581 CCDS1238 Q5T0L3 "24394471|27488028" MGI:1924175 RGD:1565283 617257 HGNC:27648 "ENST00000367935.10|NM_182581.4" -HGNC:30510 SPATC1 spermatogenesis and centriole associated 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "MGC61633|SPATA15|SPERIOLIN" 2005-01-11 2023-01-20 375686 ENSG00000186583 OTTHUMG00000156976 uc011lkw.3 BC053547 NM_198572 "CCDS6413|CCDS47937" Q76KD6 15280373 MGI:1921531 RGD:1565316 610874 HGNC:30510 "ENST00000377470.8|NM_198572.3" +HGNC:30510 SPATC1 spermatogenesis and centriole associated 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "MGC61633|SPATA15|SPERIOLIN" 2005-01-11 2023-01-20 375686 ENSG00000186583 OTTHUMG00000156976 uc011lkw.3 BC053547 NM_198572 "CCDS47937|CCDS6413" Q76KD6 15280373 MGI:1921531 RGD:1565316 610874 HGNC:30510 "ENST00000377470.8|NM_198572.3" HGNC:1298 SPATC1L spermatogenesis and centriole associated 1 like protein-coding gene gene with protein product Approved 21q22.3 21q22.3 speriolin-like protein C21orf56 "chromosome 21 open reading frame 56|spermatogenesis and centriole associated 1-like" 2000-05-23 2012-11-12 2017-01-11 2023-01-20 84221 ENSG00000160284 OTTHUMG00000090487 uc011afu.3 BC009497 NM_032261 "CCDS13732|CCDS46653" Q9H0A9 MGI:1923823 RGD:1562578 612412 HGNC:1298 "ENST00000291672.6|NM_001142854.2" HGNC:1298 HGNC:22957 SPATS1 spermatogenesis associated serine rich 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "SPATA8|FLJ25442|SRSP1" spermatogenesis associated, serine-rich 1 2003-08-08 2016-03-11 2023-01-20 221409 ENSG00000249481 OTTHUMG00000014764 uc021yzz.2 AK058171 NM_145026 CCDS4911 Q496A3 MGI:1918270 RGD:631367 HGNC:22957 "ENST00000674044.1|NM_001372081.1" HGNC:18650 SPATS2 spermatogenesis associated serine rich 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "SPATA10|SCR59|FLJ13117" spermatogenesis associated, serine-rich 2 2003-09-01 2016-03-11 2023-01-20 65244 ENSG00000123352 OTTHUMG00000169419 uc009zli.2 AK023179 NM_023071 CCDS31794 Q86XZ4 "11944913|17989879" MGI:1919822 RGD:1304780 611667 HGNC:18650 "ENST00000552918.6|NM_023071.4" -HGNC:24574 SPATS2L spermatogenesis associated serine rich 2 like protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "DNAPTP6|SGNP" "DNA polymerase transactivated protein 6|stress granule and nucleolar protein" spermatogenesis associated, serine-rich 2-like 2009-06-12 2016-03-11 2023-01-20 26010 ENSG00000196141 OTTHUMG00000154589 uc002uvn.5 AF193059 NM_015535 "CCDS46483|CCDS74621|CCDS46484|CCDS74622" Q9NUQ6 "19005571|22792082" MGI:1914448 RGD:1309930 613817 HGNC:24574 "ENST00000409140.8|NM_001100423.2" +HGNC:24574 SPATS2L spermatogenesis associated serine rich 2 like protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "DNAPTP6|SGNP" "DNA polymerase transactivated protein 6|stress granule and nucleolar protein" spermatogenesis associated, serine-rich 2-like 2009-06-12 2016-03-11 2023-01-20 26010 ENSG00000196141 OTTHUMG00000154589 uc002uvn.5 AF193059 NM_015535 "CCDS46483|CCDS46484|CCDS74622|CCDS74621" Q9NUQ6 "19005571|22792082" MGI:1914448 RGD:1309930 613817 HGNC:24574 "ENST00000409140.8|NM_001100423.2" HGNC:26913 SPC24 SPC24 component of NDC80 kinetochore complex protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ90806 SPBC24 "spindle pole body component 24 homolog (S. cerevisiae)|SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)|SPC24, NDC80 kinetochore complex component" NDC80 kinetochore complex 1573 2005-02-22 2007-03-02 2019-01-25 2023-01-20 147841 ENSG00000161888 OTTHUMG00000180798 uc002mql.3 AK075287 NM_182513 CCDS45974 Q8NBT2 MGI:1914879 RGD:1307631 609394 HGNC:26913 "ENST00000592540.6|NM_182513.4" HGNC:24031 SPC25 SPC25 component of NDC80 kinetochore complex protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "MGC22228|AD024" SPBC25 "spindle pole body component 25 homolog (S. cerevisiae)|SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)|SPC25, NDC80 kinetochore complex component" NDC80 kinetochore complex 1573 2005-02-22 2007-03-02 2019-01-25 2023-01-20 57405 ENSG00000152253 OTTHUMG00000132181 uc002uel.4 AF225416 NM_020675 CCDS2229 Q9HBM1 15961401 MGI:1913692 RGD:1307811 609395 HGNC:24031 "ENST00000282074.7|NM_020675.4" HGNC:23401 SPCS1 signal peptidase complex subunit 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "SPC12|HSPC033|YJR010C-A|SPC1" signal peptidase complex 12 kDa subunit signal peptidase complex subunit 1 homolog (S. cerevisiae) 2005-01-05 2015-07-23 2023-01-20 28972 ENSG00000114902 OTTHUMG00000154930 uc062kpj.1 AF092138 NM_014041 CCDS33769 Q9Y6A9 "8632014|24009510" MGI:1916269 RGD:1309125 610358 HGNC:23401 "ENST00000619898.5|NM_014041.5" @@ -37159,12 +37162,12 @@ HGNC:45235 SPCS2P2 signal peptidase complex subunit 2 pseudogene 2 pseudogene ps HGNC:45236 SPCS2P3 signal peptidase complex subunit 2 pseudogene 3 pseudogene pseudogene Approved 5p15.33 05p15.33 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 3 2013-03-11 2017-05-23 2017-05-23 100288739 ENSG00000247872 OTTHUMG00000161652 NG_021874 PGOHUM00000235497 HGNC:45236 HGNC:45237 SPCS2P4 signal peptidase complex subunit 2 pseudogene 4 pseudogene pseudogene Approved 1p35.3 01p35.3 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 4 2013-03-11 2017-05-23 2017-05-23 653566 ENSG00000228589 OTTHUMG00000003917 NG_006558 HGNC:45237 HGNC:26212 SPCS3 signal peptidase complex subunit 3 protein-coding gene gene with protein product Approved 4q34.2 04q34.2 "FLJ22649|SPC22/23|SPC3|YLR066W|PRO3567" signal peptidase complex subunit 3 homolog (S. cerevisiae) 2005-01-05 2015-07-23 2023-01-20 60559 ENSG00000129128 OTTHUMG00000160789 uc003iur.5 AK092634 NM_021928 CCDS54823 P61009 "8632014|24480542" MGI:1923937 RGD:1588184 618854 HGNC:26212 "ENST00000503362.2|NM_021928.4" -HGNC:54818 SPCS3-AS1 SPCS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q34.2 04q34.2 Antisense RNAs 1987 2020-01-17 2020-07-16 116435303 ENSG00000248980 32079618 +HGNC:54818 SPCS3-AS1 SPCS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q34.2 04q34.2 Antisense RNAs 1987 2020-01-17 2020-07-16 116435303 ENSG00000248980 NR_186171 32079618 HGNC:17257 SPDEF SAM pointed domain containing ETS transcription factor protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "PDEF|bA375E1.3" SAM pointed domain containing ets transcription factor ETS transcription factor family 534 2003-11-27 2013-08-07 2023-01-20 25803 ENSG00000124664 OTTHUMG00000014548 uc003ojq.3 AF071538 NM_012391 "CCDS4794|CCDS59013" O95238 "10625666|6857767" MGI:1353422 RGD:1594842 608144 HGNC:17257 "ENST00000374037.8|NM_012391.3" HGNC:26010 SPDL1 spindle apparatus coiled-coil protein 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "FLJ20364|hSpindly" spindly homolog (Drosophila) CCDC99 coiled-coil domain containing 99 2006-04-03 2012-09-27 2012-09-27 2023-01-20 54908 ENSG00000040275 OTTHUMG00000130438 uc003mae.5 BC012568 NM_017785 CCDS4370 Q96EA4 20427577 MGI:1917635 RGD:1306908 616401 HGNC:26010 "ENST00000265295.9|NM_017785.5" HGNC:26010 HGNC:30613 SPDYA speedy/RINGO cell cycle regulator family member A protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "SPY1|Ringo3" SPDY1 "speedy homolog 1 (Drosophila)|speedy homolog A (Xenopus laevis)" Speedy/RINGO cell cycle regulator family 756 2004-07-05 2006-03-31 2013-05-08 2023-03-15 245711 ENSG00000163806 OTTHUMG00000074041 uc002rmk.4 AA424209 NM_182756 CCDS1767 Q5MJ70 "11980914|12839962|15611625" MGI:1918141 RGD:621730 614029 HGNC:30613 "ENST00000334056.10|NM_182756.4" HGNC:32681 SPDYC speedy/RINGO cell cycle regulator family member C protein-coding gene gene with protein product Approved 11q13.1 11q13.1 Ringo2 speedy homolog C (Xenopus laevis) Speedy/RINGO cell cycle regulator family 756 2006-03-31 2013-05-08 2023-01-20 387778 ENSG00000204710 OTTHUMG00000165611 uc010rnz.3 AY820305 NM_001008778 Q5MJ68 15611625 614030 HGNC:32681 "ENST00000377185.3|NM_001008778.3" -HGNC:16408 SPDYE1 speedy/RINGO cell cycle regulator family member E1 protein-coding gene gene with protein product Approved 7p13 07p13 "Ringo1|SPDYE" Speedy E WBSCR19 "Williams Beuren syndrome chromosome region 19|speedy homolog E1 (Xenopus laevis)" Speedy/RINGO cell cycle regulator family 756 2001-08-24 2009-02-17 2013-05-08 2023-01-20 285955 ENSG00000136206 OTTHUMG00000128985 uc003tjf.4 AF412027 NM_175064 "CCDS5475|CCDS94090" Q8NFV5 12073013 "MGI:1921923|MGI:3612701" 617623 HGNC:16408 "ENST00000693451.1|NM_001378423.2" +HGNC:16408 SPDYE1 speedy/RINGO cell cycle regulator family member E1 protein-coding gene gene with protein product Approved 7p13 07p13 "Ringo1|SPDYE" Speedy E WBSCR19 "Williams Beuren syndrome chromosome region 19|speedy homolog E1 (Xenopus laevis)" Speedy/RINGO cell cycle regulator family 756 2001-08-24 2009-02-17 2013-05-08 2023-01-20 285955 ENSG00000136206 OTTHUMG00000128985 uc003tjf.4 AF412027 NM_175064 "CCDS94090|CCDS5475" Q8NFV5 12073013 "MGI:1921923|MGI:3612701" 617623 HGNC:16408 "ENST00000693451.1|NM_001378423.2" HGNC:33841 SPDYE2 speedy/RINGO cell cycle regulator family member E2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MGC119295 speedy homolog E2 (Xenopus laevis) Speedy/RINGO cell cycle regulator family 756 2009-02-17 2013-05-08 2023-01-20 441273 ENSG00000205238 OTTHUMG00000150385 uc011kkx.3 AK302217 NM_001031618 CCDS34716 Q495Y8 617624 HGNC:33841 "ENST00000691607.2|NM_001396242.1" HGNC:48334 SPDYE2B speedy/RINGO cell cycle regulator family member E2B protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Speedy/RINGO cell cycle regulator family 756 2013-05-08 2023-01-20 100310812 ENSG00000173678 OTTHUMG00000158393 NM_001166339 CCDS59507 A6NHP3 HGNC:48334 "ENST00000507450.6|NM_001166339.2" HGNC:35462 SPDYE3 speedy/RINGO cell cycle regulator family member E3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 speedy homolog E3 (Xenopus laevis) Speedy/RINGO cell cycle regulator family 756 2009-02-17 2013-05-08 2023-01-20 441272 ENSG00000214300 OTTHUMG00000155462 uc022aij.1 BC056606 NM_001004351 CCDS47658 A6NKU9 617625 HGNC:35462 "ENST00000332397.6|NM_001004351.5" @@ -37187,7 +37190,7 @@ HGNC:51515 SPDYE19P speedy/RINGO cell cycle regulator family member E19, pseudog HGNC:51516 SPDYE20P speedy/RINGO cell cycle regulator family member E20, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 Speedy/RINGO cell cycle regulator family 756 2015-01-21 2015-01-21 101060280 ENSG00000277327 OTTHUMG00000187660 NR_173149 PGOHUM00000302031 HGNC:51516 HGNC:51517 SPDYE21 speedy/RINGO cell cycle regulator family member E21 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 SPDYE21P speedy/RINGO cell cycle regulator family member E21, pseudogene Speedy/RINGO cell cycle regulator family 756 2015-01-21 2019-11-12 2019-11-12 2023-01-20 442572 ENSG00000230358 OTTHUMG00000156921 NM_001382715 CCDS94109 A0A494C086 "MGI:1921923|MGI:3612701" PGOHUM00000302783 HGNC:51517 "ENST00000424157.4|NM_001382715.2" HGNC:51518 SPDYE22P speedy/RINGO cell cycle regulator family member E22, pseudogene pseudogene pseudogene Approved 17q22 17q22 Speedy/RINGO cell cycle regulator family 756 2015-01-21 2015-01-21 100420854 ENSG00000266537 OTTHUMG00000179363 NG_026195 PGOHUM00000294162 HGNC:51518 -HGNC:30615 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "HCMOGT-1|FLJ36955|NSP" "sperm antigen HCMOGT 1|cytokinesis and spindle organization B" CYTSB cytospin B 2005-05-25 2010-09-17 2010-09-17 2023-01-20 92521 ENSG00000128487 OTTHUMG00000179808 uc002gwq.4 "AY816329|AB041533" NM_152904 "CCDS58531|CCDS92275|CCDS32590|CCDS92278|CCDS42281|CCDS92279|CCDS92277|CCDS42280|CCDS92274|CCDS92276|CCDS45628" Q5M775 "15602574|18763323|15087372" MGI:2442356 RGD:1309718 608793 HGNC:30615 "ENST00000395527.9|NM_001243439.2" +HGNC:30615 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "HCMOGT-1|FLJ36955|NSP" "sperm antigen HCMOGT 1|cytokinesis and spindle organization B" CYTSB cytospin B 2005-05-25 2010-09-17 2010-09-17 2023-01-20 92521 ENSG00000128487 OTTHUMG00000179808 uc002gwq.4 "AY816329|AB041533" NM_152904 "CCDS45628|CCDS92278|CCDS92277|CCDS58531|CCDS92276|CCDS92279|CCDS42281|CCDS42280|CCDS92275|CCDS92274|CCDS32590" Q5M775 "15602574|18763323|15087372" MGI:2442356 RGD:1309718 608793 HGNC:30615 "ENST00000395527.9|NM_001243439.2" HGNC:55376 SPECC1-DT SPECC1 divergent transcript non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Divergent transcripts 1990 2020-11-12 2020-11-12 119545627 ENSG00000261033 HGNC:29022 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like protein-coding gene gene with protein product Approved 22q11.23 22q11.23 KIAA0376 cytokinesis and spindle organization A CYTSA "SPECC1-like|cytospin A" 2006-10-19 2010-09-17 2016-06-07 2023-01-20 23384 ENSG00000100014 OTTHUMG00000171450 uc002zzv.6 AK025531 NM_015330 "CCDS58797|CCDS33619" Q69YQ0 9205841 MGI:1921642 RGD:1309570 614140 270468 HGNC:29022 "ENST00000314328.14|NM_015330.6" HGNC:29022 HGNC:49185 SPECC1L-ADORA2A SPECC1L-ADORA2A readthrough (NMD candidate) other readthrough Approved 22q11.23 22q11.23 2013-09-25 2013-09-25 101730217 ENSG00000258555 OTTHUMG00000150762 NR_103546 HGNC:49185 @@ -37195,7 +37198,7 @@ HGNC:53867 SPECC1P1 SPECC1 pseudogene 1 pseudogene pseudogene Approved 17p12 17p HGNC:53868 SPECC1P2 SPECC1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2018-05-01 2018-05-01 112488741 ENSG00000244456 OTTHUMG00000130761 NG_068479 HGNC:15874 SPEF1 sperm flagellar 1 protein-coding gene gene with protein product Approved 20p13 20p13 "DKFZP434I114|SPEF1A|CLAMP" CaLponin-homology And Microtubule-associated Protein C20orf28 chromosome 20 open reading frame 28 2001-06-21 2007-08-20 2007-08-20 2023-01-20 25876 ENSG00000101222 OTTHUMG00000031756 uc002wjj.4 AL080154 NM_015417 CCDS13063 Q9Y4P9 "15979255|25070955" MGI:3513546 RGD:1311267 610674 HGNC:15874 "ENST00000379756.3|NM_015417.5" HGNC:26293 SPEF2 sperm flagellar 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "KPL2|FLJ23577|CT122" cancer/testis antigen 122 2007-08-20 2023-01-20 79925 ENSG00000152582 OTTHUMG00000131111 uc003jjo.4 AB051557 NM_144722 "CCDS43309|CCDS3910" Q9C093 "11214970|16549801|17610085" MGI:2443727 RGD:620450 610172 HGNC:26293 "ENST00000356031.8|NM_024867.4" HGNC:26293 -HGNC:16901 SPEG striated muscle enriched protein kinase protein-coding gene gene with protein product Approved 2q35 02q35 "MGC12676|KIAA1297|SPEGalpha|SPEGbeta|BPEG|MYLK6" striated muscle preferentially expressed protein kinase APEG1 "aortic preferentially expressed gene 1|SPEG complex locus" "I-set domain containing|Myosin light chain kinase family" "593|1668" 2005-03-17 2006-04-27 2018-10-18 2023-01-20 10290 ENSG00000072195 OTTHUMG00000058925 uc010fwg.4 BC006346 NM_005876 "CCDS54432|CCDS42824" Q15772 "8663449|10973969|27729468" MGI:109282 RGD:2124 615950 410675 objectId:2203 HGNC:16901 "ENST00000312358.12|NM_005876.5" HGNC:16901 +HGNC:16901 SPEG striated muscle enriched protein kinase protein-coding gene gene with protein product Approved 2q35 02q35 "MGC12676|KIAA1297|SPEGalpha|SPEGbeta|BPEG|MYLK6" striated muscle preferentially expressed protein kinase APEG1 "aortic preferentially expressed gene 1|SPEG complex locus" "I-set domain containing|Myosin light chain kinase family" "593|1668" 2005-03-17 2006-04-27 2018-10-18 2023-01-20 10290 ENSG00000072195 OTTHUMG00000058925 uc010fwg.4 BC006346 NM_005876 "CCDS42824|CCDS54432" Q15772 "8663449|10973969|27729468" MGI:109282 RGD:2124 615950 410675 objectId:2203 HGNC:16901 "ENST00000312358.12|NM_005876.5" HGNC:16901 HGNC:51251 SPEGNB SPEG neighbor protein-coding gene gene with protein product Approved 2q35 02q35 2018-10-18 2023-03-15 100996693 ENSG00000286095 OTTHUMG00000058925 NM_001286811 A0A087WV53 HGNC:51251 "ENST00000651166.2|NM_001286811.2" HGNC:32429 SPEM1 spermatid maturation 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ40081 C17orf83 chromosome 17 open reading frame 83 2006-04-25 2008-02-04 2008-02-04 2023-01-20 374768 ENSG00000181323 OTTHUMG00000178189 uc002ggv.3 AK097400 NM_199339 CCDS42254 Q8N4L4 "17426145|20558241|21184802" MGI:1921538 RGD:1593311 615116 HGNC:32429 "ENST00000323675.4|NM_199339.3" HGNC:27315 SPEM2 SPEM family member 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 C17orf74 chromosome 17 open reading frame 74 2006-01-12 2017-07-27 2017-07-27 2023-01-20 201243 ENSG00000184560 OTTHUMG00000178190 uc002ggw.4 BC044816 NM_175734 CCDS42255 Q0P670 12477932 MGI:1918293 RGD:1565061 HGNC:27315 "ENST00000333870.8|NM_175734.5" @@ -37204,13 +37207,13 @@ HGNC:17575 SPEN spen family transcriptional repressor protein-coding gene gene w HGNC:55937 SPEN-AS1 SPEN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 FLJ37453 Antisense RNAs 1987 2021-11-10 2021-11-10 729614 ENSG00000179743 NR_024279 HGNC:15570 SPESP1 sperm equatorial segment protein 1 protein-coding gene gene with protein product Approved 15q23 15q23 SP-ESP 2001-04-24 2023-01-20 246777 ENSG00000258484 OTTHUMG00000133321 uc002arn.2 AF275321 NM_145658 CCDS10230 Q6UW49 12773409 MGI:1913962 RGD:1563468 609399 HGNC:15570 "ENST00000310673.4|NM_145658.4" HGNC:11237 SPG7 SPG7 matrix AAA peptidase subunit, paraplegin protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "CAR|SPG5C" paraplegin CMAR "cell matrix adhesion regulator|spastic paraplegia 7 (pure and complicated autosomal recessive)" AAA ATPases 413 1998-06-25 2019-01-28 2023-01-20 6687 ENSG00000197912 OTTHUMG00000138046 uc002fnj.4 Y16610 NM_003119 "CCDS10978|CCDS92212|CCDS10977" Q9UQ90 "9635427|9634528" MGI:2385906 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602783 119829 M41.006 HGNC:11237 "ENST00000645818.2|NM_003119.4" HGNC:11237 -HGNC:11226 SPG11 SPG11 vesicle trafficking associated, spatacsin protein-coding gene gene with protein product Approved 15q21.1 15q21.1 FLJ21439 spatacsin "KIAA1840|ALS5" "KIAA1840|spastic paraplegia 11 (autosomal recessive)|amyotrophic lateral sclerosis 5" 1999-10-08 2019-01-28 2023-01-20 80208 ENSG00000104133 OTTHUMG00000131199 uc001ztx.4 NM_001160227 "CCDS53939|CCDS10112|CCDS91991" Q96JI7 "10408536|17322883|26556829" MGI:2444989 RGD:1562529 610844 119807 HGNC:11226 "ENST00000261866.12|NM_025137.4" HGNC:11226 -HGNC:20373 SPG21 SPG21 abhydrolase domain containing, maspardin protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "ACP33|GL010|BM-019|MAST|ABHD21" "spastic paraplegia 21 (autosomal recessive, Mast syndrome)|SPG21, maspardin" Abhydrolase domain containing 4 2004-04-30 2019-01-28 2023-01-20 51324 ENSG00000090487 OTTHUMG00000133098 uc002aoe.5 AF208861 NM_016630 "CCDS10198|CCDS45279" Q9NZD8 "11113139|14564668" MGI:106403 RGD:1359141 608181 119815 HGNC:20373 "ENST00000204566.7|NM_016630.7" HGNC:20373 -HGNC:11240 SPHK1 sphingosine kinase 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 SPHK 1999-02-01 2023-01-20 8877 ENSG00000176170 OTTHUMG00000180177 uc002jrj.3 BC030553 "NM_182965|NM_021972" "CCDS11744|CCDS59297|CCDS45785" Q9NYA1 9726979 MGI:1316649 RGD:620048 603730 objectId:2204 HGNC:11240 "ENST00000592299.6|NM_001142601.2" -HGNC:18859 SPHK2 sphingosine kinase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 2002-07-05 2023-01-20 56848 ENSG00000063176 OTTHUMG00000183318 uc002pjr.4 AF245447 NM_001204158 "CCDS12727|CCDS59405|CCDS59404|CCDS74414" Q9NRA0 "10751414|17895250|19168031" MGI:1861380 RGD:1307757 607092 objectId:2205 HGNC:18859 "ENST00000245222.9|NM_020126.5" -HGNC:30619 SPHKAP SPHK1 interactor, AKAP domain containing protein-coding gene gene with protein product Approved 2q36.3 02q36.3 SKIP sphingosine kinase type 1-interacting protein A-kinase anchoring proteins 396 2007-12-06 2023-01-20 80309 ENSG00000153820 OTTHUMG00000153584 uc002vpp.3 NM_030623 "CCDS33389|CCDS46537" Q2M3C7 "12080051|11214970" MGI:1924879 RGD:1311951 611646 HGNC:30619 "ENST00000392056.8|NM_001142644.2" +HGNC:11226 SPG11 SPG11 vesicle trafficking associated, spatacsin protein-coding gene gene with protein product Approved 15q21.1 15q21.1 FLJ21439 spatacsin "KIAA1840|ALS5" "KIAA1840|spastic paraplegia 11 (autosomal recessive)|amyotrophic lateral sclerosis 5" 1999-10-08 2019-01-28 2023-01-20 80208 ENSG00000104133 OTTHUMG00000131199 uc001ztx.4 NM_001160227 "CCDS91991|CCDS53939|CCDS10112" Q96JI7 "10408536|17322883|26556829" MGI:2444989 RGD:1562529 610844 119807 HGNC:11226 "ENST00000261866.12|NM_025137.4" HGNC:11226 +HGNC:20373 SPG21 SPG21 abhydrolase domain containing, maspardin protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "ACP33|GL010|BM-019|MAST|ABHD21" "spastic paraplegia 21 (autosomal recessive, Mast syndrome)|SPG21, maspardin" Abhydrolase domain containing 4 2004-04-30 2019-01-28 2023-01-20 51324 ENSG00000090487 OTTHUMG00000133098 uc002aoe.5 AF208861 NM_016630 "CCDS45279|CCDS10198" Q9NZD8 "11113139|14564668" MGI:106403 RGD:1359141 608181 119815 HGNC:20373 "ENST00000204566.7|NM_016630.7" HGNC:20373 +HGNC:11240 SPHK1 sphingosine kinase 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 SPHK 1999-02-01 2023-01-20 8877 ENSG00000176170 OTTHUMG00000180177 uc002jrj.3 BC030553 "NM_182965|NM_021972" "CCDS59297|CCDS45785|CCDS11744" Q9NYA1 9726979 MGI:1316649 RGD:620048 603730 objectId:2204 HGNC:11240 "ENST00000592299.6|NM_001142601.2" +HGNC:18859 SPHK2 sphingosine kinase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 2002-07-05 2023-01-20 56848 ENSG00000063176 OTTHUMG00000183318 uc002pjr.4 AF245447 NM_001204158 "CCDS74414|CCDS59405|CCDS59404|CCDS12727" Q9NRA0 "10751414|17895250|19168031" MGI:1861380 RGD:1307757 607092 objectId:2205 HGNC:18859 "ENST00000245222.9|NM_020126.5" +HGNC:30619 SPHKAP SPHK1 interactor, AKAP domain containing protein-coding gene gene with protein product Approved 2q36.3 02q36.3 SKIP sphingosine kinase type 1-interacting protein A-kinase anchoring proteins 396 2007-12-06 2023-01-20 80309 ENSG00000153820 OTTHUMG00000153584 uc002vpp.3 NM_030623 "CCDS46537|CCDS33389" Q2M3C7 "12080051|11214970" MGI:1924879 RGD:1311951 611646 HGNC:30619 "ENST00000392056.8|NM_001142644.2" HGNC:11241 SPI1 Spi-1 proto-oncogene protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "PU.1|SPI-A|OF|SFPI1|SPI-1" "hematopoietic transcription factor PU.1|31 kDa transforming protein" spleen focus forming virus (SFFV) proviral integration oncogene ETS transcription factor family 534 1988-07-04 2014-06-25 2023-01-20 6688 ENSG00000066336 OTTHUMG00000150150 uc001nfc.2 X52056 NM_003120 "CCDS7933|CCDS44591" P17947 1693183 MGI:98282 RGD:1359607 165170 HGNC:11241 "ENST00000378538.8|NM_003120.3" HGNC:11241 -HGNC:11242 SPIB Spi-B transcription factor protein-coding gene gene with protein product Approved 19q13.33 19q13.33 SPI-B Spi-B transcription factor (Spi-1/PU.1 related) ETS transcription factor family 534 1994-12-15 2016-03-11 2023-01-20 6689 ENSG00000269404 OTTHUMG00000183039 uc002psd.4 NM_003121 "CCDS58674|CCDS33080|CCDS59412" Q01892 1406622 MGI:892986 RGD:1565899 606802 239862 HGNC:11242 "ENST00000595883.6|NM_003121.5" +HGNC:11242 SPIB Spi-B transcription factor protein-coding gene gene with protein product Approved 19q13.33 19q13.33 SPI-B Spi-B transcription factor (Spi-1/PU.1 related) ETS transcription factor family 534 1994-12-15 2016-03-11 2023-01-20 6689 ENSG00000269404 OTTHUMG00000183039 uc002psd.4 NM_003121 "CCDS33080|CCDS59412|CCDS58674" Q01892 1406622 MGI:892986 RGD:1565899 606802 239862 HGNC:11242 "ENST00000595883.6|NM_003121.5" HGNC:29549 SPIC Spi-C transcription factor protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "MGC40611|SPI-C" Spi-C transcription factor (Spi-1/PU.1 related) ETS transcription factor family 534 2004-03-18 2016-03-11 2023-01-20 121599 ENSG00000166211 OTTHUMG00000170273 uc001tid.3 AF518404 NM_152323 CCDS9082 Q8N5J4 12459275 MGI:1341168 RGD:1306272 612568 HGNC:29549 "ENST00000551346.2|NM_152323.3" HGNC:25083 SPICE1 spindle and centriole associated protein 1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 SPICE spindle and centriole protein CCDC52 coiled-coil domain containing 52 2006-01-02 2010-09-01 2010-09-01 2023-01-20 152185 ENSG00000163611 OTTHUMG00000159261 uc003eag.5 AY099107 NM_144718 CCDS2973 Q8N0Z3 20736305 MGI:1196252 613447 HGNC:25083 "ENST00000295872.8|NM_144718.4" HGNC:56809 SPICP1 Spi-C transcription factor pseudogene 1 pseudogene pseudogene Approved 11p13 11p13 2023-04-19 2023-04-19 646120 ENSG00000255161 NG_021780 PGOHUM00000290432 @@ -37218,32 +37221,32 @@ HGNC:56810 SPICP2 Spi-C transcription factor pseudogene 2 pseudogene pseudogene HGNC:56811 SPICP3 Spi-C transcription factor pseudogene 3 pseudogene pseudogene Approved 17p13.1 17p13.1 2023-04-19 2023-04-19 100128007 ENSG00000262503 NG_022442 PGOHUM00000293951 HGNC:56812 SPICP4 Spi-C transcription factor pseudogene 4 pseudogene pseudogene Approved 5p15.33 05p15.33 2023-04-19 2023-04-19 100128803 ENSG00000250020 NG_054915 PGOHUM00000300857 HGNC:56813 SPICP5 Spi-C transcription factor pseudogene 5 pseudogene pseudogene Approved 4p16.3 04p16.3 2023-04-19 2023-04-19 100421664 ENSG00000249077 NG_025191 PGOHUM00000300111 -HGNC:28971 SPIDR scaffold protein involved in DNA repair protein-coding gene gene with protein product Approved 8q11.21 08q11.21 KIAA0146 "KIAA0146|scaffolding protein involved in DNA repair" 2005-09-01 2013-07-02 2018-03-01 2023-01-20 23514 ENSG00000164808 OTTHUMG00000164176 AK055680 NM_001080394 "CCDS64891|CCDS87607|CCDS64890|CCDS43737" Q14159 "8590280|23509288" MGI:1924834 RGD:1566036 615384 HGNC:28971 "ENST00000297423.9|NM_001080394.4" HGNC:28971 +HGNC:28971 SPIDR scaffold protein involved in DNA repair protein-coding gene gene with protein product Approved 8q11.21 08q11.21 KIAA0146 "KIAA0146|scaffolding protein involved in DNA repair" 2005-09-01 2013-07-02 2018-03-01 2023-01-20 23514 ENSG00000164808 OTTHUMG00000164176 AK055680 NM_001080394 "CCDS87607|CCDS43737|CCDS64891|CCDS64890" Q14159 "8590280|23509288" MGI:1924834 RGD:1566036 615384 HGNC:28971 "ENST00000297423.9|NM_001080394.4" HGNC:28971 HGNC:11243 SPIN1 spindlin 1 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 TDRD24 SPIN spindlin "Tudor domain containing|Spindlin family" "780|1089" 1999-08-06 2007-01-03 2007-01-03 2023-01-20 10927 ENSG00000106723 OTTHUMG00000020168 uc004apy.4 AF317228 NM_006717 CCDS43843 Q9Y657 16098913 MGI:109242 RGD:1306210 609936 HGNC:11243 "ENST00000375859.4|NM_006717.3" HGNC:20694 SPIN2A spindlin family member 2A protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "DXF34|TDRD25" SPIN2 "spindlin family, member 2|spindlin family, member 2A" "Tudor domain containing|Spindlin family" "780|1089" 2004-01-26 2006-12-05 2015-11-18 2023-01-20 54466 ENSG00000147059 OTTHUMG00000022705 uc064zow.1 Y09858 NM_019003 CCDS35312 Q99865 9271673 "MGI:1922101|MGI:3605548|MGI:3645574|MGI:3645924|MGI:3647272|MGI:3650966|MGI:3705652|MGI:3781026|MGI:3781070|MGI:3781932|MGI:3805546|MGI:5434821|MGI:5434847|MGI:5434992" RGD:1560898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SPIN2A 300621 HGNC:20694 "ENST00000374906.4|NM_019003.5" -HGNC:33147 SPIN2B spindlin family member 2B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "SPIN-2|TDRD26" spindlin family, member 2B "Tudor domain containing|Spindlin family" "780|1089" 2006-12-05 2015-11-18 2023-01-20 474343 ENSG00000186787 OTTHUMG00000021680 uc004duz.5 AF356353 NM_001006681 "CCDS35311|CCDS65274" Q9BPZ2 12145692 "MGI:1922101|MGI:3605548|MGI:3645574|MGI:3645924|MGI:3647272|MGI:3650966|MGI:3705652|MGI:3781026|MGI:3781070|MGI:3781932|MGI:3805546|MGI:5434821|MGI:5434847|MGI:5434992" RGD:1584901 300517 HGNC:33147 "ENST00000434397.3|NM_001006681.2" +HGNC:33147 SPIN2B spindlin family member 2B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "SPIN-2|TDRD26" spindlin family, member 2B "Tudor domain containing|Spindlin family" "780|1089" 2006-12-05 2015-11-18 2023-01-20 474343 ENSG00000186787 OTTHUMG00000021680 uc004duz.5 AF356353 NM_001006681 "CCDS65274|CCDS35311" Q9BPZ2 12145692 "MGI:1922101|MGI:3605548|MGI:3645574|MGI:3645924|MGI:3647272|MGI:3650966|MGI:3705652|MGI:3781026|MGI:3781070|MGI:3781932|MGI:3805546|MGI:5434821|MGI:5434847|MGI:5434992" RGD:1584901 300517 HGNC:33147 "ENST00000434397.3|NM_001006681.2" HGNC:54967 SPIN2P1 SPIN2 family pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 2020-05-13 2020-05-13 100129997 ENSG00000237708 NG_022603 HGNC:27272 SPIN3 spindlin family member 3 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 TDRD27 spindlin family, member 3 "Tudor domain containing|Spindlin family" "780|1089" 2004-08-16 2015-11-18 2023-01-20 169981 ENSG00000204271 OTTHUMG00000021677 uc004dux.2 AL832091 NM_001010862 CCDS43963 Q5JUX0 HGNC:27272 "ENST00000374919.6|NM_001010862.3" HGNC:27040 SPIN4 spindlin family member 4 protein-coding gene gene with protein product Approved Xq11.1 Xq11.1 "FLJ44984|TDRD28" spindlin family, member 4 "Tudor domain containing|Spindlin family" "780|1089" 2007-07-24 2015-11-18 2023-01-20 139886 ENSG00000186767 OTTHUMG00000021696 uc004dvf.3 AK126931 NM_001012968 CCDS43964 Q56A73 33636084 MGI:2444925 RGD:1564004 HGNC:27040 "ENST00000374884.3|NM_001012968.3" HGNC:41177 SPIN4-AS1 SPIN4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq11.1 Xq11.1 SPIN4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874033 ENSG00000233661 OTTHUMG00000021697 uc064zpd.1 NR_046739 SPIN4-AS1 HGNC:25115 SPINDOC spindlin interactor and repressor of chromatin binding protein-coding gene gene with protein product Approved 11q13.1 11q13.1 SPIN-DOC C11orf84 chromosome 11 open reading frame 84 2008-07-18 2018-01-09 2018-01-09 2023-01-20 144097 ENSG00000168005 OTTHUMG00000167746 uc001nxt.4 BC007540 NM_138471 CCDS31594 Q9BUA3 29061846 MGI:2147611 RGD:1308106 HGNC:25115 "ENST00000294244.9|NM_138471.3" HGNC:11244 SPINK1 serine peptidase inhibitor Kazal type 1 protein-coding gene gene with protein product Approved 5q32 05q32 "Spink3|PCTT|PSTI|TATI" serine protease inhibitor, Kazal type 1 Serine peptidase inhibitors, Kazal type 740 1988-06-27 2019-10-01 2023-01-20 6690 ENSG00000164266 OTTHUMG00000129730 uc003los.3 NM_003122 CCDS4286 P00995 MGI:106202 RGD:3749 167790 119834 I01.011 HGNC:11244 "ENST00000296695.10|NM_001379610.1" HGNC:11244 -HGNC:11245 SPINK2 serine peptidase inhibitor Kazal type 2 protein-coding gene gene with protein product Approved 4q12 04q12 HUSI-II acrosin-trypsin inhibitor serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) Serine peptidase inhibitors, Kazal type 740 1993-12-01 2019-10-01 2023-01-20 6691 ENSG00000128040 OTTHUMG00000128769 uc003hcg.3 BC022514 NM_021114 "CCDS63972|CCDS75128|CCDS63971|CCDS3508" P20155 8428671 MGI:1917232 RGD:1302956 605753 I01.012 HGNC:11245 "ENST00000506738.6|NM_001271718.2" +HGNC:11245 SPINK2 serine peptidase inhibitor Kazal type 2 protein-coding gene gene with protein product Approved 4q12 04q12 HUSI-II acrosin-trypsin inhibitor serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) Serine peptidase inhibitors, Kazal type 740 1993-12-01 2019-10-01 2023-01-20 6691 ENSG00000128040 OTTHUMG00000128769 uc003hcg.3 BC022514 NM_021114 "CCDS63971|CCDS63972|CCDS3508|CCDS75128" P20155 8428671 MGI:1917232 RGD:1302956 605753 I01.012 HGNC:11245 "ENST00000506738.6|NM_001271718.2" HGNC:16646 SPINK4 serine peptidase inhibitor Kazal type 4 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "PEC-60|MGC133107" serine protease inhibitor, Kazal type 4 Serine peptidase inhibitors, Kazal type 740 2001-09-21 2019-10-01 2023-01-20 27290 ENSG00000122711 OTTHUMG00000019762 uc003zsh.4 AF048700 NM_014471 CCDS6536 O60575 "1400298|17333166" MGI:1341848 RGD:1303188 613929 I01.970 HGNC:16646 "ENST00000379721.4|NM_014471.3" -HGNC:15464 SPINK5 serine peptidase inhibitor Kazal type 5 protein-coding gene gene with protein product Approved 5q32 05q32 "VAKTI|LEKTI|LETKI|NETS|NS|FLJ21544|FLJ97536|FLJ97596|FLJ99794|DKFZp686K19184" lymphoepithelial Kazal-type-related inhibitor serine protease inhibitor, Kazal type 5 Serine peptidase inhibitors, Kazal type 740 2001-03-30 2019-10-01 2023-01-20 11005 ENSG00000133710 OTTHUMG00000134305 uc003lox.3 AJ228139 NM_001127698 "CCDS43382|CCDS47300|CCDS47301" Q9NQ38 10419450 MGI:1919682 RGD:1306540 "SPINK5base: Mutation registry for Netherton syndrome|http://structure.bmc.lu.se/idbase/SPINK5base/|LRG_110|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_110.xml" 605010 119840 LI01-004 HGNC:15464 "ENST00000256084.8|NM_006846.4" HGNC:15464 +HGNC:15464 SPINK5 serine peptidase inhibitor Kazal type 5 protein-coding gene gene with protein product Approved 5q32 05q32 "VAKTI|LEKTI|LETKI|NETS|NS|FLJ21544|FLJ97536|FLJ97596|FLJ99794|DKFZp686K19184" lymphoepithelial Kazal-type-related inhibitor serine protease inhibitor, Kazal type 5 Serine peptidase inhibitors, Kazal type 740 2001-03-30 2019-10-01 2023-01-20 11005 ENSG00000133710 OTTHUMG00000134305 uc003lox.3 AJ228139 NM_001127698 "CCDS47300|CCDS43382|CCDS47301" Q9NQ38 10419450 MGI:1919682 RGD:1306540 "SPINK5base: Mutation registry for Netherton syndrome|http://structure.bmc.lu.se/idbase/SPINK5base/|LRG_110|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_110.xml" 605010 119840 LI01-004 HGNC:15464 "ENST00000256084.8|NM_006846.4" HGNC:15464 HGNC:29486 SPINK6 serine peptidase inhibitor Kazal type 6 protein-coding gene gene with protein product Approved 5q32 05q32 "MGC21394|UNQ844|BUSI2" protease inhibitor H serine protease inhibitor, Kazal type 6 Serine peptidase inhibitors, Kazal type 740 2004-11-30 2019-10-01 2023-01-20 404203 ENSG00000178172 OTTHUMG00000163425 uc021yff.2 AY358716 NM_205841 CCDS34268 Q6UWN8 15060002 MGI:3648654 RGD:1303338 615868 I01.015 HGNC:29486 "ENST00000325630.3|NM_205841.4" HGNC:24643 SPINK7 serine peptidase inhibitor Kazal type 7 protein-coding gene gene with protein product Approved 5q32 05q32 "ECG2|ECRG2" esophagus cancer related gene 2 serine peptidase inhibitor Kazal type 7 (putative) Serine peptidase inhibitors, Kazal type 740 2006-02-20 2019-10-01 2023-01-20 84651 ENSG00000145879 OTTHUMG00000163522 uc003lpd.4 NM_032566 CCDS4289 P58062 "12646258|12970870|29875205" MGI:3644691 RGD:1303077 617288 I01.057 HGNC:24643 "ENST00000274565.5|NM_032566.3" HGNC:33160 SPINK8 serine peptidase inhibitor Kazal type 8 (putative) protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "Serine peptidase inhibitors, Kazal type|MicroRNA protein coding host genes" "740|1691" 2006-10-27 2019-10-01 2023-01-20 646424 ENSG00000229453 OTTHUMG00000156832 uc003csq.2 NM_001080525 CCDS46822 P0C7L1 16930550 MGI:1925959 RGD:1307150 HGNC:33160 "ENST00000434006.3|NM_001080525.3" HGNC:32951 SPINK9 serine peptidase inhibitor Kazal type 9 protein-coding gene gene with protein product Approved 5q32 05q32 Serine peptidase inhibitors, Kazal type 740 2006-11-06 2019-10-01 2023-01-20 643394 ENSG00000204909 OTTHUMG00000163431 uc003lpe.1 AY396740 NM_001040433 CCDS34269 Q5DT21 RGD:1596746 613511 I01.054 HGNC:32951 "ENST00000377906.2|NM_001040433.2" HGNC:27200 SPINK13 serine peptidase inhibitor Kazal type 13 protein-coding gene gene with protein product Approved 5q32 05q32 "SPINK5L3|LiESP6|HESPINTOR|MGC149260" serine peptidase inhibitor Kazal type 13 (putative) Serine peptidase inhibitors, Kazal type 740 2010-03-31 2019-10-01 2023-01-20 153218 ENSG00000214510 OTTHUMG00000163426 uc003lpc.4 NM_001040129.2 CCDS43383 Q1W4C9 "23430248|30862605" MGI:3642511 RGD:1591057 615205 I01.060 HGNC:27200 "ENST00000398450.5|NM_001040129.3" HGNC:33825 SPINK14 serine peptidase inhibitor Kazal type 14 (putative) protein-coding gene gene with protein product Approved 5q32 05q32 SPINK5L2 Serine peptidase inhibitors, Kazal type 740 2010-03-31 2019-10-01 2023-01-20 408187 ENSG00000196800 OTTHUMG00000129732 uc031sls.2 NM_001001325 CCDS4288 Q6IE38 MGI:3646952 RGD:1303288 I01.975 HGNC:33825 "ENST00000356972.2|NM_001001325.2" -HGNC:11246 SPINT1 serine peptidase inhibitor, Kunitz type 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "HAI|HAI-1|MANSC2" serine protease inhibitor, Kunitz type 1 1988-07-18 2005-08-17 2023-01-20 6692 ENSG00000166145 OTTHUMG00000130068 uc001zna.4 NM_003710 "CCDS45231|CCDS10067" O43278 MGI:1338033 RGD:1303138 605123 ligandId:5315 HGNC:11246 "ENST00000562057.6|NM_003710.4" +HGNC:11246 SPINT1 serine peptidase inhibitor, Kunitz type 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "HAI|HAI-1|MANSC2" serine protease inhibitor, Kunitz type 1 1988-07-18 2005-08-17 2023-01-20 6692 ENSG00000166145 OTTHUMG00000130068 uc001zna.4 NM_003710 "CCDS10067|CCDS45231" O43278 MGI:1338033 RGD:1303138 605123 ligandId:5315 HGNC:11246 "ENST00000562057.6|NM_003710.4" HGNC:53162 SPINT1-AS1 SPINT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 RP11-532F12.5 Antisense RNAs 1987 2017-03-03 2020-11-11 102724362 ENSG00000261183 OTTHUMG00000172899 NR_146466 28225791 HGNC:53162 HGNC:11247 SPINT2 serine peptidase inhibitor, Kunitz type 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "Kop|HAI-2|HAI2" "placental bikunin|hepatocyte growth factor activator inhibitor-2|HGF activator inhibitor 2|Kunitz domain containing protein overexpressed in pancreatic cancer" serine protease inhibitor, Kunitz type, 2 1999-07-23 2016-06-24 2023-01-20 10653 ENSG00000167642 OTTHUMG00000181891 uc002ohr.2 U78095 NM_001166103 "CCDS54261|CCDS12510" O43291 "9115294|9346890" MGI:1338031 RGD:735123 605124 178801 LI02-005 HGNC:11247 "ENST00000301244.12|NM_021102.4" HGNC:11247 HGNC:11248 SPINT3 serine peptidase inhibitor, Kunitz type 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 HKIB9 serine protease inhibitor, Kunitz type, 3 1999-07-23 2016-06-24 2023-01-20 10816 ENSG00000101446 OTTHUMG00000032585 uc010ghg.1 X77166 NM_006652 CCDS46608 P49223 21988899 MGI:3651470 RGD:1597746 613941 HGNC:11248 "ENST00000217428.7|NM_006652.2" HGNC:16130 SPINT4 serine peptidase inhibitor, Kunitz type 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ601O1.1 C20orf137 C20orf137 2001-07-17 2005-10-25 2005-10-18 2023-01-20 391253 ENSG00000149651 OTTHUMG00000130153 uc002xpe.2 AY372174 NM_178455 CCDS33477 Q6UDR6 21988899 MGI:1925489 RGD:2319289 619430 I02.975 HGNC:16130 "ENST00000279058.4|NM_178455.3" HGNC:16161 SPINT5P serine peptidase inhibitor, Kunitz type 5, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 dJ447F3.6 C20orf168 chromosome 20 open reading frame 168 2001-07-17 2012-08-22 2012-08-22 2014-03-12 140863 ENSG00000168630 OTTHUMG00000032611 AL050348 NG_033275 21988899 MGI:3651687 PGOHUM00000261993 HGNC:16161 -HGNC:30622 SPIRE1 spire type actin nucleation factor 1 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "spir-1|KIAA1135" "spire homolog 1 (Drosophila)|spire family actin nucleation factor 1|spire-type actin nucleation factor 1" 2004-04-28 2016-02-01 2023-01-20 56907 ENSG00000134278 OTTHUMG00000153940 uc010wzy.3 AL833817 NM_001128626 "CCDS92438|CCDS45829|CCDS32790|CCDS45830" Q08AE8 "10574461|11747823" MGI:1915416 RGD:1305892 609216 HGNC:30622 "ENST00000409402.9|NM_001128626.2" +HGNC:30622 SPIRE1 spire type actin nucleation factor 1 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "spir-1|KIAA1135" "spire homolog 1 (Drosophila)|spire family actin nucleation factor 1|spire-type actin nucleation factor 1" 2004-04-28 2016-02-01 2023-01-20 56907 ENSG00000134278 OTTHUMG00000153940 uc010wzy.3 AL833817 NM_001128626 "CCDS45829|CCDS32790|CCDS92438|CCDS45830" Q08AE8 "10574461|11747823" MGI:1915416 RGD:1305892 609216 HGNC:30622 "ENST00000409402.9|NM_001128626.2" HGNC:30623 SPIRE2 spire type actin nucleation factor 2 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "spir-2|KIAA1832" "spire homolog 2 (Drosophila)|spire family actin nucleation factor 2|spire-type actin nucleation factor 2" 2004-04-28 2016-02-01 2023-01-20 84501 ENSG00000204991 OTTHUMG00000173039 uc002foz.2 AL834408 NM_032451 CCDS32516 Q8WWL2 11347906 MGI:2446256 RGD:1305837 609217 HGNC:30623 "ENST00000378247.8|NM_032451.2" HGNC:34492 SPMAP1 sperm microtubule associated protein 1 protein-coding gene gene with protein product Approved 17q12 17q12 LOC388381 C17orf98 chromosome 17 open reading frame 98 2008-08-06 2023-04-27 2023-04-27 2023-04-27 388381 ENSG00000275489 OTTHUMG00000188506 uc002hqv.3 "AC006449|DY654789" NM_001080465 CCDS42310 A8MV24 16625196 MGI:1919465 RGD:1587402 HGNC:34492 "ENST00000614158.2|NM_001080465.3" HGNC:13706 SPMAP2 sperm microtubule associated protein 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CT56|THEG1" cancer/testis antigen 56 THEG "Theg homolog (mouse)|theg spermatid protein" 2002-11-08 2023-04-27 2023-04-27 2023-04-27 51298 ENSG00000105549 OTTHUMG00000165491 uc002lol.4 AF268610 NM_016585 "CCDS12026|CCDS12025" Q9P2T0 11173852 MGI:1338756 RGD:1309240 609503 HGNC:13706 "ENST00000342640.9|NM_016585.5" @@ -37254,22 +37257,22 @@ HGNC:30435 SPMIP3 sperm microtubule inner protein 3 protein-coding gene gene wit HGNC:56415 SPMIP3P1 SPMIP3 pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 C1orf100P1 C1orf100 pseudogene 1 2022-10-19 2023-04-27 2023-04-27 2023-04-27 127379741 ENSG00000276925 NG_115724 PGOHUM00000299427 HGNC:21722 SPMIP4 sperm microtubule inner protein 4 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 C7orf31 chromosome 7 open reading frame 31 2003-07-14 2023-04-27 2023-05-18 2023-05-18 136895 ENSG00000153790 OTTHUMG00000128497 uc064cdg.1 AK097248 NM_138811 CCDS5394 Q8N865 25074808 MGI:1918071 RGD:1563788 616071 HGNC:21722 "ENST00000283905.8|NM_138811.4" HGNC:28500 SPMIP5 sperm microtubule inner protein 5 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "MGC33547|Em:AC016825.4" C10orf82 chromosome 10 open reading frame 82 2004-02-18 2023-04-27 2023-05-18 2023-05-18 143379 ENSG00000165863 OTTHUMG00000019105 uc001lcr.3 BC021737 NM_144661 "CCDS81510|CCDS7596" Q8WW14 12477932 MGI:1914757 RGD:1584737 HGNC:28500 "ENST00000588184.2|NM_001350931.2" -HGNC:19919 SPMIP6 sperm microtubule inner protein 6 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA573M23.4|NYD-SP22|MGC32921|MGC33614|CBE1|SMRP1" "ciliated bronchial epithelium 1|spermatid-specific manchette-related protein 1" C9orf24 chromosome 9 open reading frame 24 2002-12-03 2023-04-27 2023-04-27 2023-04-27 84688 ENSG00000164972 OTTHUMG00000000437 uc003zuh.3 BC029484 NM_147169 "CCDS59121|CCDS94398|CCDS6553|CCDS6555|CCDS6554" Q8NCR6 "12029067|15242845|18163442" MGI:1920971 RGD:1561916 619502 HGNC:19919 "ENST00000297623.7|NM_032596.4" +HGNC:19919 SPMIP6 sperm microtubule inner protein 6 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA573M23.4|NYD-SP22|MGC32921|MGC33614|CBE1|SMRP1" "ciliated bronchial epithelium 1|spermatid-specific manchette-related protein 1" C9orf24 chromosome 9 open reading frame 24 2002-12-03 2023-04-27 2023-04-27 2023-04-27 84688 ENSG00000164972 OTTHUMG00000000437 uc003zuh.3 BC029484 NM_147169 "CCDS6553|CCDS6554|CCDS59121|CCDS6555|CCDS94398" Q8NCR6 "12029067|15242845|18163442" MGI:1920971 RGD:1561916 619502 HGNC:19919 "ENST00000297623.7|NM_032596.4" HGNC:22564 SPMIP7 sperm microtubule inner protein 7 protein-coding gene gene with protein product Approved 7p12.2 07p12.2 "C7orf72|SPATA48" "chromosome 7 open reading frame 72|spermatogenesis associated 48" 2009-10-14 2023-04-27 2023-04-27 2023-04-27 100130988 ENSG00000164500 OTTHUMG00000155883 uc011kcj.3 NM_001161834 CCDS47585 A4D263 "22110678|29700843" MGI:1921112 RGD:1309870 HGNC:22564 "ENST00000297001.7|NM_001161834.3" HGNC:33745 SPMIP8 sperm microtubule inner protein 8 protein-coding gene gene with protein product Approved 16q21 16q21 TEPP testis, prostate and placenta expressed 2009-04-20 2023-04-27 2023-04-27 2023-04-27 374739 ENSG00000159648 OTTHUMG00000133463 uc002emv.5 BC104458 NM_199456 "CCDS45496|CCDS10790" Q6URK8 "14652002|19548082" MGI:1920657 RGD:735198 610264 HGNC:33745 "ENST00000441824.4|NM_199456.3" HGNC:26341 SPMIP9 sperm microtubule inner protein 9 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ25369|TSC21" Testis-Specific Conserved gene 21kDa "C2orf51|TEX37" "chromosome 2 open reading frame 51|testis expressed 37" 2006-10-26 2023-04-27 2023-04-27 2023-04-27 200523 ENSG00000172073 OTTHUMG00000130332 uc002stb.3 AK058098 NM_152670 CCDS2003 Q96LM6 17091336 MGI:1921471 RGD:1562720 619676 HGNC:26341 "ENST00000303254.4|NM_152670.3" HGNC:33767 SPMIP10 sperm microtubule inner protein 10 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "MGC163367|MGC163369|FLJ27505|Tseg7" testis specific expressed gene 7 "C5orf48|TEX43" "chromosome 5 open reading frame 48|testis expressed 43|sperm associated microtubule inner protein 10" 2008-07-14 2023-04-27 2023-05-18 2023-05-18 389320 ENSG00000196900 OTTHUMG00000128944 NM_207408 CCDS4139 Q6ZNM6 MGI:1914593 RGD:1561039 HGNC:33767 "ENST00000357147.4|NM_207408.3" HGNC:48628 SPMIP11 sperm microtubule inner protein 11 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "LINC00935|TEX49" "long intergenic non-protein coding RNA 935|testis expressed 49" 2013-05-30 2023-04-27 2023-04-27 2023-04-27 255411 ENSG00000257987 OTTHUMG00000170394 "AK131005|BC054859" NM_001351123 CCDS86296 A0A1B0GTD5 MGI:1921113 RGD:1305928 HGNC:48628 "ENST00000548380.6|NM_001351123.2" HGNC:11249 SPN sialophorin protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "LSN|CD43|GPL115|LEU-22" leukosialin sialophorin (gpL115, leukosialin, CD43) CD molecules 471 1988-08-31 2008-07-31 2023-01-20 6693 ENSG00000197471 OTTHUMG00000097765 uc002dtn.5 J04536 NM_001030288 P16150 "2784859|2521952" MGI:98384 RGD:3750 182160 CD43 HGNC:11249 "ENST00000652691.1|NM_003123.6" -HGNC:30621 SPNS1 SPNS lysolipid transporter 1, lysophospholipid protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "HSpin1|nrs|SPINL|PP2030|SPIN1|LAT|SLC63A1" solute carrier family 63 member 1 "spinster homolog 1 (Drosophila)|sphingolipid transporter 1 (putative)" Solute carrier family 63, sphingosine phosphate transporters 2212 2007-04-12 2022-10-12 2023-03-14 83985 ENSG00000169682 OTTHUMG00000131762 uc002dsa.3 BC006156 NM_032038 "CCDS45452|CCDS45453|CCDS45454|CCDS10646" Q9H2V7 "11340170|12815463|36161949" MGI:1920908 RGD:1305613 612583 SLC63A1 objectId:3047 HGNC:30621 "ENST00000311008.16|NM_032038.3" +HGNC:30621 SPNS1 SPNS lysolipid transporter 1, lysophospholipid protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "HSpin1|nrs|SPINL|PP2030|SPIN1|LAT|SLC63A1" solute carrier family 63 member 1 "spinster homolog 1 (Drosophila)|sphingolipid transporter 1 (putative)" Solute carrier family 63, sphingosine phosphate transporters 2212 2007-04-12 2022-10-12 2023-03-14 83985 ENSG00000169682 OTTHUMG00000131762 uc002dsa.3 BC006156 NM_032038 "CCDS45454|CCDS10646|CCDS45453|CCDS45452" Q9H2V7 "11340170|12815463|36161949" MGI:1920908 RGD:1305613 612583 SLC63A1 objectId:3047 HGNC:30621 "ENST00000311008.16|NM_032038.3" HGNC:26992 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate protein-coding gene gene with protein product Approved 17p13.2 17p13.2 SLC63A2 solute carrier family 63 member 2 "spinster homolog 2 (Drosophila)|sphingolipid transporter 2" Solute carrier family 63, sphingosine phosphate transporters 2212 2007-04-12 2022-10-12 2023-03-14 124976 ENSG00000183018 OTTHUMG00000177739 uc002fxx.3 BC041772 NM_001124758 CCDS42237 Q8IVW8 "12815463|26324848" MGI:2384936 RGD:2303312 612584 SLC63A2 objectId:3048 HGNC:26992 "ENST00000329078.8|NM_001124758.3" HGNC:26992 HGNC:55787 SPNS2-AS1 SPNS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Antisense RNAs 1987 2021-07-28 2021-07-28 107985053 ENSG00000229782 XR_001752762 HGNC:28433 SPNS3 SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "MGC29671|SLC63A3" solute carrier family 63 member 3 "spinster homolog 3 (Drosophila)|sphingolipid transporter 3 (putative)" Solute carrier family 63, sphingosine phosphate transporters 2212 2007-04-12 2022-10-12 2023-03-14 201305 ENSG00000182557 OTTHUMG00000177737 uc002fxt.4 NM_182538 CCDS11045 Q6ZMD2 "17714910|34608834" MGI:1924827 RGD:1561884 611701 SLC63A3 objectId:3049 HGNC:28433 "ENST00000355530.7|NM_182538.5" HGNC:11250 SPO11 SPO11 initiator of meiotic double strand breaks protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "CT35|SPATA43|TOPVIA|TOPOVIA" "cancer/testis antigen 35|spermatogenesis associated 43" "SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like|SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)|SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)|SPO11 meiotic protein covalently bound to DSB|SPO11 initiator of meiotic double stranded breaks" 1999-12-02 2023-05-18 2023-05-18 23626 ENSG00000054796 OTTHUMG00000032817 uc002xye.4 AF169385 NM_012444 "CCDS13457|CCDS13456" Q9Y5K1 "10534401|26995551" MGI:1349669 RGD:1306454 605114 HGNC:11250 "ENST00000371263.8|NM_012444.3" -HGNC:26338 SPOCD1 SPOC domain containing 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "FLJ25348|PPP1R146" protein phosphatase 1, regulatory subunit 146 Protein phosphatase 1 regulatory subunits 694 2004-08-27 2023-01-20 90853 ENSG00000134668 OTTHUMG00000003879 uc001bts.3 AK058077 NM_144569 "CCDS72748|CCDS347|CCDS60066" Q6ZMY3 29257309 MGI:3652045 RGD:1560989 619038 HGNC:26338 "ENST00000360482.7|NM_144569.7" +HGNC:26338 SPOCD1 SPOC domain containing 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "FLJ25348|PPP1R146" protein phosphatase 1, regulatory subunit 146 Protein phosphatase 1 regulatory subunits 694 2004-08-27 2023-01-20 90853 ENSG00000134668 OTTHUMG00000003879 uc001bts.3 AK058077 NM_144569 "CCDS347|CCDS72748|CCDS60066" Q6ZMY3 29257309 MGI:3652045 RGD:1560989 619038 HGNC:26338 "ENST00000360482.7|NM_144569.7" HGNC:11251 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 testican-1 "TIC1|SPOCK" "sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)|SPARC/osteonectin, cwcv and kazal like domains proteoglycan 1" SPARC family 1278 1995-10-02 2005-11-04 2018-02-23 2023-01-20 6695 ENSG00000152377 OTTHUMG00000129157 uc003lbp.4 AF231124 NM_004598 CCDS4191 Q08629 9545645 MGI:105371 RGD:1311496 602264 471142 I31.006 HGNC:11251 "ENST00000394945.6|NM_004598.4" HGNC:13564 SPOCK2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "KIAA0275|testican-2" "sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2|SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2" SPARC family 1278 2003-01-24 2018-02-23 2023-01-20 9806 ENSG00000107742 OTTHUMG00000018430 uc001jsp.4 AJ001453 NM_001134434 "CCDS44431|CCDS7313" Q92563 10386950 MGI:1891351 RGD:1308568 607988 I31.954 HGNC:13564 "ENST00000373109.7|NM_001244950.2" -HGNC:13565 SPOCK3 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 testican-3 "sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3|SPARC/osteonectin, cwcv and kazal like domains proteoglycan 3" SPARC family 1278 2003-01-24 2018-02-23 2023-01-20 50859 ENSG00000196104 OTTHUMG00000161190 uc063auj.1 AJ001454 NM_001040159 "CCDS56344|CCDS58931|CCDS54817|CCDS34095|CCDS56346|CCDS56347|CCDS56343|CCDS75207" Q9BQ16 11751414 MGI:1920152 RGD:1305672 607989 I31.007 HGNC:13565 "ENST00000357545.9|NM_001040159.2" +HGNC:13565 SPOCK3 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 testican-3 "sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3|SPARC/osteonectin, cwcv and kazal like domains proteoglycan 3" SPARC family 1278 2003-01-24 2018-02-23 2023-01-20 50859 ENSG00000196104 OTTHUMG00000161190 uc063auj.1 AJ001454 NM_001040159 "CCDS54817|CCDS56343|CCDS56346|CCDS56344|CCDS56347|CCDS75207|CCDS58931|CCDS34095" Q9BQ16 11751414 MGI:1920152 RGD:1305672 607989 I31.007 HGNC:13565 "ENST00000357545.9|NM_001040159.2" HGNC:11252 SPON1 spondin 1 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "KIAA0762|f-spondin" spondin 1, (f-spondin) extracellular matrix protein 1999-06-18 2016-01-12 2023-01-20 10418 ENSG00000262655 OTTHUMG00000181576 uc031xfv.2 AB018305 NM_145584 CCDS73262 Q9HCB6 9872452 MGI:2385287 RGD:619918 604989 HGNC:11252 "ENST00000576479.4|NM_006108.4" HGNC:53117 SPON1-AS1 SPON1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.2 11p15.2 "RP11-21|L19.1" Antisense RNAs 1987 2017-02-10 2017-02-10 109729138 ENSG00000254418 OTTHUMG00000165755 28103885 HGNC:11253 SPON2 spondin 2 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 DIL1 "Mindin|M-spondin" spondin 2, extracellular matrix protein 1999-06-18 2016-01-12 2023-03-15 10417 ENSG00000159674 OTTHUMG00000089002 uc021xkj.2 AB027466 NM_001128325 Q9BUD6 "10512675|15094111" MGI:1923724 RGD:708584 605918 HGNC:11253 "ENST00000290902.10|NM_012445.4" @@ -37280,7 +37283,7 @@ HGNC:56791 SPOPLP1 SPOPL pseudogene 1 pseudogene pseudogene Approved 4q13.2 04q1 HGNC:56792 SPOPLP2 SPOPL pseudogene 2 pseudogene pseudogene Approved 4q13.2 04q13.2 2023-04-19 2023-04-19 642381 ENSG00000250277 NG_008367 PGOHUM00000299874 HGNC:56793 SPOPLP3 SPOPL pseudogene 3 pseudogene pseudogene Approved 4q13.2 04q13.2 2023-04-19 2023-04-19 100174950 ENSG00000248547 NG_008369 PGOHUM00000299869 HGNC:26933 SPOUT1 SPOUT domain containing methyltransferase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "HSPC109|CENP-32" centromere protein 32 C9orf114 chromosome 9 open reading frame 114 SPOUT methyltransferase domain containing 1294 2004-03-25 2016-06-30 2016-06-30 2023-01-20 51490 ENSG00000198917 OTTHUMG00000020762 uc004bwd.3 NM_016390 CCDS6913 Q5T280 "20813266|25657325" MGI:106544 RGD:1563514 617614 2.1.1.- HGNC:26933 "ENST00000361256.10|NM_016390.4" -HGNC:11255 SPP1 secreted phosphoprotein 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "BSPI|ETA-1|lnc-PKD2-2-3" early T-lymphocyte activation 1 "BNSP|OPN" "osteopontin|bone sialoprotein I" "Receptor ligands|SIBLING family" "542|1279" 1989-03-06 2008-07-31 2023-01-20 6696 ENSG00000118785 OTTHUMG00000130599 uc003hrc.4 NM_000582 "CCDS43250|CCDS93558|CCDS34027|CCDS3626" P10451 1575754 MGI:98389 RGD:3752 166490 369311 ligandId:6753 HGNC:11255 "ENST00000395080.8|NM_001040058.2" +HGNC:11255 SPP1 secreted phosphoprotein 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "BSPI|ETA-1|lnc-PKD2-2-3" early T-lymphocyte activation 1 "BNSP|OPN" "osteopontin|bone sialoprotein I" "Receptor ligands|SIBLING family" "542|1279" 1989-03-06 2008-07-31 2023-01-20 6696 ENSG00000118785 OTTHUMG00000130599 uc003hrc.4 NM_000582 "CCDS43250|CCDS34027|CCDS3626|CCDS93558" P10451 1575754 MGI:98389 RGD:3752 166490 369311 ligandId:6753 HGNC:11255 "ENST00000395080.8|NM_001040058.2" HGNC:11256 SPP2 secreted phosphoprotein 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 SPP24 "secreted phosphoprotein 2, 24kD|secreted phosphoprotein 2, 24kDa" 1996-08-21 2015-11-09 2023-01-20 6694 ENSG00000072080 OTTHUMG00000059208 uc061twv.1 NM_006944 CCDS2511 Q13103 9533032 MGI:1922646 RGD:708488 602637 HGNC:11256 "ENST00000168148.8|NM_006944.3" HGNC:11256 HGNC:30227 SPPL2A signal peptide peptidase like 2A protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "IMP3|PSL2" "intramembrane protease 3|presenilin-like protein 2" Peptidase family A22 2099 2012-02-21 2023-01-20 84888 ENSG00000138600 OTTHUMG00000131647 uc001zyv.4 NM_032802 CCDS10138 Q8TCT8 "12077416|12139484" MGI:1913802 RGD:1563001 608238 471144 HGNC:30227 "ENST00000261854.10|NM_032802.4" HGNC:30627 SPPL2B signal peptide peptidase like 2B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "IMP4|PSL1|KIAA1532" intramembrane protease 4 Peptidase family A22 2099 2012-02-21 2023-01-20 56928 ENSG00000005206 OTTHUMG00000180443 uc032hjo.2 NM_020172 "CCDS74252|CCDS74253" Q8TCT7 10819331 MGI:1920468 RGD:1308556 608239 HGNC:30627 "ENST00000613503.5|NM_152988.3" @@ -37288,7 +37291,7 @@ HGNC:28902 SPPL2C signal peptide peptidase like 2C protein-coding gene gene with HGNC:30424 SPPL3 signal peptide peptidase like 3 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "IMP2|PSL4|MGC90402|MGC126674|MGC126676|DKFZP586C1324" "intramembrane protease 2|presenilin-like protein 4" Peptidase family A22 2099 2012-02-21 2023-01-20 121665 ENSG00000157837 OTTHUMG00000169232 uc001tzd.4 NM_139015 CCDS9208 Q8TCT6 12139484 MGI:1891433 RGD:1562826 608240 HGNC:30424 "ENST00000353487.7|NM_139015.5" HGNC:11257 SPR sepiapterin reductase protein-coding gene gene with protein product Approved 2p13.2 02p13.2 SDR38C1 "short chain dehydrogenase/reductase family 38C, member 1|Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)" sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) Short chain dehydrogenase/reductase superfamily 743 1991-12-05 2017-08-04 2023-01-20 6697 ENSG00000116096 OTTHUMG00000129777 uc002sik.3 NM_003124 CCDS1920 P35270 "1883349|19027726" MGI:103078 RGD:3753 BIOMBD|http://www.biopku.org/home/biomdb.asp 182125 119844 objectId:3020 1.1.1.153 HGNC:11257 "ENST00000234454.6|NM_003124.5" HGNC:11257 HGNC:20249 SPRED1 sprouty related EVH1 domain containing 1 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ33903|PPP1R147" protein phosphatase 1, regulatory subunit 147 Protein phosphatase 1 regulatory subunits 694 2003-01-24 2016-04-28 2023-01-20 161742 ENSG00000166068 OTTHUMG00000172377 uc001zka.5 AK091222 NM_152594 CCDS32193 Q7Z699 MGI:2150016 RGD:1308735 609291 159367 HGNC:20249 "ENST00000299084.9|NM_152594.3" HGNC:20249 -HGNC:17722 SPRED2 sprouty related EVH1 domain containing 2 protein-coding gene gene with protein product Approved 2p14 02p14 "Spred-2|FLJ21897|FLJ31917" 2003-06-02 2016-04-28 2023-01-20 200734 ENSG00000198369 OTTHUMG00000152737 uc010fcw.4 AF052178 NM_001128210 "CCDS46308|CCDS33211" Q7Z698 MGI:2150019 RGD:1309304 609292 HGNC:17722 "ENST00000356388.9|NM_181784.3" +HGNC:17722 SPRED2 sprouty related EVH1 domain containing 2 protein-coding gene gene with protein product Approved 2p14 02p14 "Spred-2|FLJ21897|FLJ31917" 2003-06-02 2016-04-28 2023-01-20 200734 ENSG00000198369 OTTHUMG00000152737 uc010fcw.4 AF052178 NM_001128210 "CCDS33211|CCDS46308" Q7Z698 MGI:2150019 RGD:1309304 609292 HGNC:17722 "ENST00000356388.9|NM_181784.3" HGNC:31041 SPRED3 sprouty related EVH1 domain containing 3 protein-coding gene gene with protein product Approved 19q13 19q13 2004-01-22 2016-04-28 2023-03-15 399473 ENSG00000188766 OTTHUMG00000182082 uc002oim.5 NM_001042522 CCDS42560 Q2MJR0 14618415 MGI:2142186 RGD:1311713 609293 HGNC:31041 "ENST00000691638.1|NM_001394336.1" HGNC:26128 SPRING1 SREBF pathway regulator in golgi 1 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 "FLJ21415|SPRING|POST1|LUR1" "SREBP regulating gene|partner of site-1 protease" C12orf49 chromosome 12 open reading frame 49 2006-01-24 2020-04-29 2020-04-29 2023-01-20 79794 ENSG00000111412 OTTHUMG00000169392 uc001tvz.2 AK025068 NM_024738 CCDS9179 Q9H741 "32111832|32666500|32694731|32694732" MGI:1924042 RGD:1562310 HGNC:26128 "ENST00000261318.5|NM_024738.4" HGNC:44986 SPRING1P1 SPRING1 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 2020-04-29 2020-04-29 100132615 ENSG00000271173 OTTHUMG00000184663 NG_022172 PGOHUM00000290131 @@ -37304,11 +37307,11 @@ HGNC:11263 SPRR2C small proline rich protein 2C (pseudogene) pseudogene pseudoge HGNC:11264 SPRR2D small proline rich protein 2D protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2D Small proline rich proteins 1353 2004-10-28 2016-01-25 2023-01-20 6703 ENSG00000163216 OTTHUMG00000014396 uc057lar.1 AF333954 NM_001382248 CCDS30864 P22532 8325635 "MGI:1330309|MGI:1330346|MGI:1330347|MGI:1330348" RGD:7559659 617587 HGNC:11264 "ENST00000360379.4|NM_006945.5" HGNC:11265 SPRR2E small proline rich protein 2E protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2E Small proline rich proteins 1353 2004-10-28 2016-01-25 2023-01-20 6704 ENSG00000203785 OTTHUMG00000014397 uc057lav.1 AF333955 NM_001024209 CCDS30866 P22531 8325635 "MGI:1330309|MGI:1330346|MGI:1330347|MGI:1330348" RGD:11469006 617588 HGNC:11265 "ENST00000368750.8|NM_001024209.4" HGNC:11266 SPRR2F small proline rich protein 2F protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2F Small proline rich proteins 1353 2004-10-22 2016-01-25 2023-01-20 6705 ENSG00000244094 OTTHUMG00000014398 uc001fbi.4 AF333956 NM_001014450 CCDS30867 Q96RM1 "8325635|11279051" "MGI:1330309|MGI:1330346|MGI:1330347|MGI:1330348" RGD:7654558 617589 HGNC:11266 "ENST00000468739.2|NM_001014450.3" -HGNC:11267 SPRR2G small proline rich protein 2G protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2G Small proline rich proteins 1353 2004-10-22 2016-01-25 2023-01-20 6706 ENSG00000159516 OTTHUMG00000014399 uc009wod.3 AF333957 NM_001014291 CCDS30868 Q9BYE4 "8325635|11279051" RGD:7690861 617590 HGNC:11267 "ENST00000368748.5|NM_001014291.4" +HGNC:11267 SPRR2G small proline rich protein 2G protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2G Small proline rich proteins 1353 2004-10-22 2016-01-25 2023-01-20 6706 ENSG00000159516 OTTHUMG00000014399 uc009wod.3 AF333957 NM_001014291 CCDS30868 Q9BYE4 "8325635|11279051" 617590 HGNC:11267 "ENST00000368748.5|NM_001014291.4" HGNC:11268 SPRR3 small proline rich protein 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 3 Small proline rich proteins 1353 1993-01-20 2016-01-25 2023-01-20 6707 ENSG00000163209 OTTHUMG00000013872 uc001fax.5 AY118269 NM_005416 CCDS1033 Q9UBC9 8325635 MGI:1330237 RGD:1309589 182271 HGNC:11268 "ENST00000295367.5|NM_001097589.2" HGNC:23173 SPRR4 small proline rich protein 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 4 Small proline rich proteins 1353 2003-09-26 2016-01-25 2023-01-20 163778 ENSG00000184148 OTTHUMG00000012450 uc001fav.2 AF335109 NM_173080 CCDS1031 Q96PI1 "11719550|11279051" MGI:2654508 RGD:2324572 616363 HGNC:23173 "ENST00000328051.3|NM_173080.3" HGNC:53428 SPRR5 small proline rich protein 5 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Small proline rich proteins 1353 2017-03-31 2019-01-10 110806278 ENSG00000283227 OTTHUMG00000177850 NM_001395435 A0A1B0GTR4 30622217 MGI:1924218 "ENST00000636302.2|NM_001395435.1" -HGNC:25356 SPRTN SprT-like N-terminal domain protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "DKFZP547N043|Spartan|DVC1" "SprT-like domain at the N terminus|DNA damage-targeting VCP (p97) adaptor" C1orf124 chromosome 1 open reading frame 124 2005-06-23 2012-06-18 2012-06-18 2023-01-20 83932 ENSG00000010072 OTTHUMG00000038022 uc001hur.5 AL512744 NM_032018 "CCDS31054|CCDS58066|CCDS1594" Q9H040 "22681887|25496645" MGI:2685351 RGD:1559496 616086 444788 HGNC:25356 "ENST00000295050.12|NM_032018.7" HGNC:25356 +HGNC:25356 SPRTN SprT-like N-terminal domain protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "DKFZP547N043|Spartan|DVC1" "SprT-like domain at the N terminus|DNA damage-targeting VCP (p97) adaptor" C1orf124 chromosome 1 open reading frame 124 2005-06-23 2012-06-18 2012-06-18 2023-01-20 83932 ENSG00000010072 OTTHUMG00000038022 uc001hur.5 AL512744 NM_032018 "CCDS58066|CCDS31054|CCDS1594" Q9H040 "22681887|25496645" MGI:2685351 RGD:1559496 616086 444788 HGNC:25356 "ENST00000295050.12|NM_032018.7" HGNC:25356 HGNC:11269 SPRY1 sprouty RTK signaling antagonist 1 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 hSPRY1 "sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)|sprouty homolog 1, antagonist of FGF signaling (Drosophila)" 1998-11-09 2015-06-26 2023-01-20 10252 ENSG00000164056 OTTHUMG00000133071 uc031sgy.1 AF041037 NM_001258038 CCDS3731 O43609 "9458049|15962011" MGI:1345139 RGD:1309293 602465 HGNC:11269 "ENST00000651917.1|NM_001258038.2" HGNC:11270 SPRY2 sprouty RTK signaling antagonist 2 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 hSPRY2 "sprouty (Drosophila) homolog 2|sprouty homolog 2 (Drosophila)" 1998-11-09 2015-06-26 2023-01-20 10253 ENSG00000136158 OTTHUMG00000017140 uc001vlj.4 AF039843 NM_001318536 CCDS9463 O43597 9458049 MGI:1345138 RGD:1311472 602466 HGNC:11270 "ENST00000377104.4|NM_005842.4" HGNC:11270 HGNC:11271 SPRY3 sprouty RTK signaling antagonist 3 protein-coding gene gene with protein product Approved Xq28 and Yq12 Xq28 and Yq12 HSPRY3 antagonist of FGF signaling "sprouty (Drosophila) homolog 2|sprouty homolog 3 (Drosophila)" Pseudoautosomal region 2 716 1998-11-09 2015-06-26 2023-01-20 10251 ENSG00000168939 OTTHUMG00000022675 uc004fxi.2 AF041038 NM_005840 CCDS14769 O43610 9458049 MGI:1345188 RGD:1562172 300531 HGNC:11271 "ENST00000695325.1|NM_001304990.2" @@ -37317,19 +37320,19 @@ HGNC:53465 SPRY4-AS1 SPRY4 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:42394 SPRY4-IT1 SPRY4 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 SPRIGHTLY SPRY4 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-07-07 2015-02-25 2018-08-09 100642175 OTTHUMG00000189512 uc063iel.1 AK024556 NR_131221 "21558391|25344859|26829028" 617617 spry4-it1 HGNC:42394 HGNC:25920 SPRYD3 SPRY domain containing 3 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 FLJ14800 2006-01-25 2006-02-02 2023-01-20 84926 ENSG00000167778 OTTHUMG00000170101 uc001sbt.2 AK074694 NM_032840 CCDS8845 Q8NCJ5 14702039 MGI:2446175 RGD:1561500 HGNC:25920 "ENST00000301463.9|NM_032840.3" HGNC:27468 SPRYD4 SPRY domain containing 4 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 DKFZp686N0877 2006-03-01 2023-01-20 283377 ENSG00000176422 OTTHUMG00000187405 uc001sli.5 AL832247 NM_207344 CCDS8920 Q8WW59 MGI:1913951 RGD:1306649 HGNC:27468 "ENST00000338146.7|NM_207344.4" -HGNC:14297 SPRYD7 SPRY domain containing 7 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 CLLD6 C13orf1 chromosome 13 open reading frame 1 2001-01-26 2011-05-25 2011-05-25 2023-01-20 57213 ENSG00000123178 OTTHUMG00000016924 uc001vdl.3 AF055016 NM_020456 "CCDS9422|CCDS45046" Q5W111 "11306461|11771308" MGI:1913924 RGD:1306437 607866 HGNC:14297 "ENST00000361840.8|NM_020456.4" +HGNC:14297 SPRYD7 SPRY domain containing 7 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 CLLD6 C13orf1 chromosome 13 open reading frame 1 2001-01-26 2011-05-25 2011-05-25 2023-01-20 57213 ENSG00000123178 OTTHUMG00000016924 uc001vdl.3 AF055016 NM_020456 "CCDS45046|CCDS9422" Q5W111 "11306461|11771308" MGI:1913924 RGD:1306437 607866 HGNC:14297 "ENST00000361840.8|NM_020456.4" HGNC:52300 SPRYD7P1 SPRY domain containing 7 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2016-06-30 2016-06-30 100130843 ENSG00000234404 OTTHUMG00000013135 NG_022675 PGOHUM00000305164 HGNC:52300 HGNC:30628 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 SSB-1 2005-09-01 2023-01-20 80176 ENSG00000171621 OTTHUMG00000001279 uc010oae.3 NM_025106 CCDS102 Q96BD6 "15713673|12076535" MGI:1921896 RGD:1309319 611657 HGNC:30628 "ENST00000328089.11|NM_025106.4" HGNC:29522 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "GRCC9|SSB-2" 2005-09-01 2023-01-20 84727 ENSG00000111671 OTTHUMG00000156665 uc001qrm.4 AF403027 NM_032641 CCDS8567 Q99619 "8723724|12076535" MGI:1315199 RGD:1310854 611658 HGNC:29522 "ENST00000524270.6|NM_032641.4" HGNC:30629 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 SSB-3 C16orf31 chromosome 16 open reading frame 31 2005-09-01 2023-01-20 90864 ENSG00000162032 OTTHUMG00000176746 uc002cmu.4 NM_080861 CCDS32365 Q6PJ21 12076535 MGI:1891471 RGD:1310936 611659 HGNC:30629 "ENST00000566339.6|NM_080861.4" HGNC:30630 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 protein-coding gene gene with protein product Approved 3q23 03q23 SSB-4 2005-09-01 2023-01-20 92369 ENSG00000175093 OTTHUMG00000160223 uc003ett.4 NM_080862 CCDS3115 Q96A44 12076535 MGI:2183445 RGD:1562307 611660 HGNC:30630 "ENST00000310546.3|NM_080862.3" HGNC:11272 SPTA1 spectrin alpha, erythrocytic 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 EL2 elliptocytosis 2 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) "EF-hand domain containing|Spectrins" "863|1113" 2001-06-22 2016-01-12 2023-01-20 6708 ENSG00000163554 OTTHUMG00000019636 uc001fst.2 M61877 NM_003126 CCDS41423 P02549 MGI:98385 RGD:1305194 LRG_1131|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1131.xml 182860 119846 HGNC:11272 "ENST00000643759.2|NM_003126.4" HGNC:11272 -HGNC:11273 SPTAN1 spectrin alpha, non-erythrocytic 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 alpha-fodrin "EF-hand domain containing|Spectrins" "863|1113" 2001-06-22 2016-01-12 2023-01-20 6709 ENSG00000197694 OTTHUMG00000020754 uc004bvl.5 M19725 NM_003127 "CCDS75914|CCDS94500|CCDS6905|CCDS48036|CCDS94501|CCDS87695|CCDS87696" Q13813 3336352 MGI:98386 RGD:621714 182810 235187 HGNC:11273 "ENST00000372739.7|NM_001130438.3" HGNC:11273 -HGNC:11274 SPTB spectrin beta, erythrocytic protein-coding gene gene with protein product Approved 14q23.3 14q23.3 spherocytosis, clinical type I "Pleckstrin homology domain containing|Spectrins|MicroRNA protein coding host genes" "682|1113|1691" 2001-06-22 2016-01-12 2023-01-20 6710 ENSG00000070182 OTTHUMG00000171550 uc001xhs.3 NM_001024858 "CCDS32099|CCDS32100" P11277 2209094 MGI:98387 RGD:1303243 LRG_1130|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1130.xml 182870 119849 HGNC:11274 "ENST00000644917.1|NM_001355436.2" HGNC:11274 +HGNC:11273 SPTAN1 spectrin alpha, non-erythrocytic 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 alpha-fodrin "EF-hand domain containing|Spectrins" "863|1113" 2001-06-22 2016-01-12 2023-01-20 6709 ENSG00000197694 OTTHUMG00000020754 uc004bvl.5 M19725 NM_003127 "CCDS75914|CCDS87695|CCDS48036|CCDS94501|CCDS94500|CCDS6905|CCDS87696" Q13813 3336352 MGI:98386 RGD:621714 182810 235187 HGNC:11273 "ENST00000372739.7|NM_001130438.3" HGNC:11273 +HGNC:11274 SPTB spectrin beta, erythrocytic protein-coding gene gene with protein product Approved 14q23.3 14q23.3 spherocytosis, clinical type I "Pleckstrin homology domain containing|Spectrins|MicroRNA protein coding host genes" "682|1113|1691" 2001-06-22 2016-01-12 2023-01-20 6710 ENSG00000070182 OTTHUMG00000171550 uc001xhs.3 NM_001024858 "CCDS32100|CCDS32099" P11277 2209094 MGI:98387 RGD:1303243 LRG_1130|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1130.xml 182870 119849 HGNC:11274 "ENST00000644917.1|NM_001355436.2" HGNC:11274 HGNC:11275 SPTBN1 spectrin beta, non-erythrocytic 1 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 "Fodrin beta chain|Beta-II spectrin" "Pleckstrin homology domain containing|Spectrins" "682|1113" 1989-01-16 2016-01-12 2023-01-20 6711 ENSG00000115306 OTTHUMG00000133746 uc002rxu.4 NM_003128 "CCDS33198|CCDS33199" Q01082 MGI:98388 RGD:727922 182790 HGNC:11275 "ENST00000356805.9|NM_003128.3" -HGNC:40562 SPTBN1-AS1 SPTBN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p16.2 02p16.2 SPTBN1-AS2 SPTBN1 antisense RNA 2 Antisense RNAs 1987 2020-03-27 2020-03-27 2020-03-27 2020-03-27 105374640 ENSG00000228108 -HGNC:40563 SPTBN1-AS2 SPTBN1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2p16.2 02p16.2 Antisense RNAs 1987 2021-12-10 2021-12-10 123706536 ENSG00000238018 OTTHUMG00000152506 -HGNC:11276 SPTBN2 spectrin beta, non-erythrocytic 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 SCA5 spinocerebellar ataxia 5 "Pleckstrin homology domain containing|Spectrins" "682|1113" 1997-10-16 2016-01-12 2023-01-20 6712 ENSG00000173898 OTTHUMG00000167262 uc001ojd.4 "AB008567|AF026487|AF026488|AF079569" NM_006946 "CCDS91511|CCDS8150" O15020 "9826670|16429157" MGI:1313261 RGD:3751 604985 119851 HGNC:11276 "ENST00000533211.6|NM_006946.4" HGNC:11276 +HGNC:40562 SPTBN1-AS1 SPTBN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p16.2 02p16.2 SPTBN1-AS2 SPTBN1 antisense RNA 2 Antisense RNAs 1987 2020-03-27 2020-03-27 2020-03-27 2020-03-27 105374640 ENSG00000228108 NR_185881 +HGNC:40563 SPTBN1-AS2 SPTBN1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2p16.2 02p16.2 Antisense RNAs 1987 2021-12-10 2021-12-10 123706536 ENSG00000238018 OTTHUMG00000152506 NR_186176 +HGNC:11276 SPTBN2 spectrin beta, non-erythrocytic 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 SCA5 spinocerebellar ataxia 5 "Pleckstrin homology domain containing|Spectrins" "682|1113" 1997-10-16 2016-01-12 2023-01-20 6712 ENSG00000173898 OTTHUMG00000167262 uc001ojd.4 "AB008567|AF026487|AF026488|AF079569" NM_006946 "CCDS8150|CCDS91511" O15020 "9826670|16429157" MGI:1313261 RGD:3751 604985 119851 HGNC:11276 "ENST00000533211.6|NM_006946.4" HGNC:11276 HGNC:14896 SPTBN4 spectrin beta, non-erythrocytic 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "SPTBN3|KIAA1642" "Pleckstrin homology domain containing|Spectrins" "682|1113" 2001-05-09 2016-01-12 2023-01-20 57731 ENSG00000160460 OTTHUMG00000182592 uc002ony.4 AF082075 NM_020971 "CCDS12559|CCDS42569" Q9H254 11086001 MGI:1890574 RGD:1304682 606214 HGNC:14896 "ENST00000598249.6|NM_020971.3" HGNC:14896 HGNC:15680 SPTBN5 spectrin beta, non-erythrocytic 5 protein-coding gene gene with protein product Approved 15q21 15q21 "HUSPECV|BSPECV|HUBSPECV" beta V spectrin "Spectrins|MicroRNA protein coding host genes" "1113|1691" 2001-05-29 2016-01-12 2023-01-20 51332 ENSG00000137877 OTTHUMG00000172720 uc001zos.5 AF233523 NM_016642 CCDS61599 Q9NRC6 10764729 MGI:2685200 RGD:1311047 605916 HGNC:15680 "ENST00000320955.8|NM_016642.4" HGNC:11277 SPTLC1 serine palmitoyltransferase long chain base subunit 1 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "LCB1|SPTI|HSAN1|hLCB1" HSN1 hereditary sensory neuropathy, type 1 2000-07-31 2016-01-12 2023-01-20 10558 ENSG00000090054 OTTHUMG00000021047 uc004arl.3 Y08685 NM_006415 "CCDS6693|CCDS6692" O15269 9363775 MGI:1099431 RGD:1307140 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_272|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_272.xml" 605712 119854 objectId:2509 2.3.1.50 HGNC:11277 "ENST00000262554.7|NM_006415.4" HGNC:11277 @@ -37375,17 +37378,17 @@ HGNC:26333 SRFBP1 serum response factor binding protein 1 protein-coding gene ge HGNC:17382 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 "KIAA1304|ARHGAP13" "F-BAR domain containing |AH/BAR family Rho GTPase activating proteins" "1288|1923" 2002-12-09 2023-01-20 57522 ENSG00000196935 OTTHUMG00000168750 uc010ssp.2 AB037725 NM_001346201 "CCDS91718|CCDS8967" Q7Z6B7 11672528 MGI:2152936 RGD:1566260 606523 HGNC:17382 "ENST00000355086.8|NM_020762.4" HGNC:17382 HGNC:19751 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "KIAA0456|ARHGAP34|SRGAP2A" FNBP2 formin binding protein 2 "F-BAR domain containing |Small nucleolar RNA protein coding host genes|AH/BAR family Rho GTPase activating proteins" "1288|1835|1923" 2002-11-25 2004-11-12 2004-11-12 2023-01-20 23380 ENSG00000266028 OTTHUMG00000184381 uc031vli.2 AB007925 NM_015326 "CCDS76262|CCDS73017|CCDS76261" O75044 "15046868|11672528" MGI:109605 RGD:1566016 606524 HGNC:19751 "ENST00000573034.8|NM_015326.5" HGNC:40902 SRGAP2-AS1 SRGAP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p11.2 01p11.2 SRGAP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-22 2012-08-15 2016-10-11 100873165 ENSG00000230806 OTTHUMG00000013093 uc031uqc.1 AK127439 NR_104189 SRGAP2-AS1 HGNC:40902 -HGNC:35237 SRGAP2B SLIT-ROBO Rho GTPase activating protein 2B protein-coding gene gene with protein product Approved 1q21.1 01q21.1 SRGAP2P2 "SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2|SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)" "F-BAR domain containing |Small nucleolar RNA protein coding host genes" "1288|1835" 2008-10-27 2012-05-08 2013-02-13 2023-03-15 647135 ENSG00000196369 OTTHUMG00000041442 uc031urt.2 NM_001271870 "CCDS91032|CCDS72854" P0DMP2 "22559943|22559944" MGI:109605 614703 HGNC:35237 "ENST00000641863.3|NM_001271870.5" +HGNC:35237 SRGAP2B SLIT-ROBO Rho GTPase activating protein 2B protein-coding gene gene with protein product Approved 1q21.1 01q21.1 SRGAP2P2 "SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2|SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)" "F-BAR domain containing |Small nucleolar RNA protein coding host genes" "1288|1835" 2008-10-27 2012-05-08 2013-02-13 2023-03-15 647135 ENSG00000196369 OTTHUMG00000041442 uc031urt.2 NM_001271870 "CCDS72854|CCDS91032" P0DMP2 "22559943|22559944" MGI:109605 614703 HGNC:35237 "ENST00000641863.3|NM_001271870.5" HGNC:30584 SRGAP2C SLIT-ROBO Rho GTPase activating protein 2C protein-coding gene gene with protein product Approved 1p11.2 01p11.2 SRGAP2P1 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1 F-BAR domain containing 1288 2007-03-19 2012-05-08 2012-05-08 2023-01-20 653464 ENSG00000171943 OTTHUMG00000041445 uc057jxs.1 BC112927 NM_001271872 CCDS81364 P0DJJ0 "22559944|22559943" MGI:109605 614704 PGOHUM00000244882 HGNC:30584 "ENST00000367123.8|NM_001329984.2" HGNC:43932 SRGAP2D SLIT-ROBO Rho GTPase activating protein 2D (pseudogene) pseudogene pseudogene Approved 1q21.1 01q21.1 SLIT-ROBO Rho GTPase activating protein 2D 2013-02-13 2014-06-18 2014-07-10 100996712 ENSG00000270872 OTTHUMG00000188642 NR_120535 22559943 614705 HGNC:43932 -HGNC:19744 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "KIAA0411|MEGAP|WRP|ARHGAP14" SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 "F-BAR domain containing |AH/BAR family Rho GTPase activating proteins" "1288|1923" 2002-12-09 2004-11-12 2004-11-12 2023-01-20 9901 ENSG00000196220 OTTHUMG00000090589 uc003brf.4 AB007871 NM_001033117 "CCDS2572|CCDS33689" O43295 12195014 MGI:2152938 RGD:1563152 606525 363255 HGNC:19744 "ENST00000383836.8|NM_014850.4" +HGNC:19744 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "KIAA0411|MEGAP|WRP|ARHGAP14" SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 "F-BAR domain containing |AH/BAR family Rho GTPase activating proteins" "1288|1923" 2002-12-09 2004-11-12 2004-11-12 2023-01-20 9901 ENSG00000196220 OTTHUMG00000090589 uc003brf.4 AB007871 NM_001033117 "CCDS33689|CCDS2572" O43295 12195014 MGI:2152938 RGD:1563152 606525 363255 HGNC:19744 "ENST00000383836.8|NM_014850.4" HGNC:40898 SRGAP3-AS1 SRGAP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SRGAP3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874103 ENSG00000224808 OTTHUMG00000155031 uc062gih.1 "AI209215|BX111651" SRGAP3-AS1 HGNC:40899 SRGAP3-AS2 SRGAP3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SRGAP3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2020-04-20 101927416 ENSG00000228723 OTTHUMG00000155019 uc062gin.1 NR_121663 SRGAP3-AS2 HGNC:40899 HGNC:40900 SRGAP3-AS3 SRGAP3 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SRGAP3 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100288831 ENSG00000227929 OTTHUMG00000155028 uc062gip.2 NR_103443 SRGAP3-AS3 HGNC:40900 HGNC:42434 SRGAP3-AS4 SRGAP3 antisense RNA 4 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SRGAP3 antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 101927440 ENSG00000235830 OTTHUMG00000155030 uc062gir.1 NR_146969 SRGAP3-AS4 HGNC:42434 HGNC:9361 SRGN serglycin protein-coding gene gene with protein product Approved 10q22.1 10q22.1 PPG serglycin proteoglycan "PRG|PRG1" proteoglycan 1, secretory granule Proteoglycans 570 1988-07-22 2007-02-15 2007-02-15 2023-01-20 5552 ENSG00000122862 OTTHUMG00000018369 uc001joz.4 BC015516 NM_002727 CCDS7285 P10124 MGI:97756 RGD:619969 177040 HGNC:9361 "ENST00000242465.4|NM_002727.4" HGNC:49107 SRGNP1 serglycin pseudogene 1 pseudogene pseudogene Approved 13q22.3 13q22.3 2013-09-03 2013-09-03 106480246 ENSG00000271386 OTTHUMG00000184868 NG_045605 PGOHUM00000248638 HGNC:49107 -HGNC:11292 SRI sorcin protein-coding gene gene with protein product Approved 7q21.12 07q21.12 EF-hand domain containing 863 1989-03-09 2023-01-20 6717 ENSG00000075142 OTTHUMG00000157267 uc003ujq.3 M32886 NM_003130 "CCDS5612|CCDS47638|CCDS59063" P30626 2901906 MGI:98419 RGD:1584485 LRG_414|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_414.xml 182520 HGNC:11292 "ENST00000265729.7|NM_003130.4" HGNC:11292 +HGNC:11292 SRI sorcin protein-coding gene gene with protein product Approved 7q21.12 07q21.12 EF-hand domain containing 863 1989-03-09 2023-01-20 6717 ENSG00000075142 OTTHUMG00000157267 uc003ujq.3 M32886 NM_003130 "CCDS59063|CCDS5612|CCDS47638" P30626 2901906 MGI:98419 RGD:1584485 LRG_414|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_414.xml 182520 HGNC:11292 "ENST00000265729.7|NM_003130.4" HGNC:11292 HGNC:40564 SRI-AS1 SRI antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.12 07q21.12 Antisense RNAs 1987 2020-03-27 2020-03-27 102723885 ENSG00000254003 OTTHUMG00000164017 NR_120517 HGNC:11293 SRIP1 sorcin pseudogene 1 pseudogene pseudogene Approved 4q12 04q12 SRIL sorcin-like 1989-05-15 2010-07-29 2010-07-29 2014-11-19 6644 ENSG00000248660 OTTHUMG00000160660 NG_003017 PGOHUM00000245920 HGNC:11293 HGNC:38734 SRIP2 sorcin pseudogene 2 pseudogene pseudogene Approved Xq21.31 Xq21.31 2010-07-29 2014-11-19 100499485 ENSG00000224065 OTTHUMG00000021952 NG_027484 PGOHUM00000241436 HGNC:38734 @@ -37405,27 +37408,27 @@ HGNC:53768 SRP14P2 SRP14 pseudogene 2 pseudogene pseudogene Approved 11q21 11q21 HGNC:53769 SRP14P3 SRP14 pseudogene 3 pseudogene pseudogene Approved 17q21.33 17q21.33 signal recognition particle 14 pseudogene 3 2017-10-26 2022-11-02 2022-11-02 111644142 ENSG00000235183 OTTHUMG00000161831 NG_068477 PGOHUM00000294472 HGNC:53770 SRP14P4 SRP14 pseudogene 4 pseudogene pseudogene Approved 1q24.3 01q24.3 signal recognition particle 14 pseudogene 4 2017-10-26 2022-11-02 2022-11-02 111644147 ENSG00000268062 OTTHUMG00000035501 NG_065997 PGOHUM00000295951 HGNC:53770 HGNC:56569 SRP14P5 SRP14 pseudogene 5 pseudogene pseudogene Approved 3q26.1 03q26.1 2022-11-02 2022-11-02 127482536 ENSG00000271052 NG_047147 PGOHUM00000299252 -HGNC:11300 SRP19 signal recognition particle 19 protein-coding gene gene with protein product Approved 5q22.2 05q22.2 signal recognition particle 19kDa Signal recognition particle 1876 1991-12-05 2016-06-22 2023-01-20 6728 ENSG00000153037 OTTHUMG00000186064 uc003kqc.4 NM_003135 "CCDS4108|CCDS87319|CCDS56376|CCDS75286|CCDS56375" P09132 2460823 MGI:1913634 RGD:1308437 182175 HGNC:11300 "ENST00000505459.6|NM_003135.3" -HGNC:11301 SRP54 signal recognition particle 54 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 signal recognition particle 54kDa Signal recognition particle 1876 1991-12-05 2016-06-22 2023-03-15 6729 ENSG00000100883 OTTHUMG00000140214 uc001wso.4 X86373 NM_003136 "CCDS9652|CCDS91863" P61011 8722571 "MGI:1346087|MGI:3714357|MGI:3714359" RGD:621390 604857 HGNC:11301 "ENST00000216774.11|NM_003136.4" HGNC:11301 +HGNC:11300 SRP19 signal recognition particle 19 protein-coding gene gene with protein product Approved 5q22.2 05q22.2 signal recognition particle 19kDa Signal recognition particle 1876 1991-12-05 2016-06-22 2023-01-20 6728 ENSG00000153037 OTTHUMG00000186064 uc003kqc.4 NM_003135 "CCDS56376|CCDS56375|CCDS87319|CCDS75286|CCDS4108" P09132 2460823 MGI:1913634 RGD:1308437 182175 HGNC:11300 "ENST00000505459.6|NM_003135.3" +HGNC:11301 SRP54 signal recognition particle 54 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 signal recognition particle 54kDa Signal recognition particle 1876 1991-12-05 2016-06-22 2023-03-15 6729 ENSG00000100883 OTTHUMG00000140214 uc001wso.4 X86373 NM_003136 "CCDS91863|CCDS9652" P61011 8722571 "MGI:1346087|MGI:3714357|MGI:3714359" RGD:621390 604857 HGNC:11301 "ENST00000216774.11|NM_003136.4" HGNC:11301 HGNC:50643 SRP54-AS1 SRP54 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q13.2 14q13.2 SRP54 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-06-02 2021-01-14 2021-01-14 100506157 ENSG00000258704 OTTHUMG00000170821 NR_151701 SRP54-AS1 HGNC:50643 HGNC:11302 SRP68 signal recognition particle 68 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "signal recognition particle 68kD|signal recognition particle 68kDa" Signal recognition particle 1876 1991-12-05 2016-04-04 2023-01-20 6730 ENSG00000167881 OTTHUMG00000180054 uc002jqk.3 AF195951 NM_014230 "CCDS11738|CCDS58601|CCDS58600" Q9UHB9 10618370 MGI:1917447 RGD:1305376 604858 HGNC:11302 "ENST00000307877.7|NM_014230.4" HGNC:30427 SRP68P1 signal recognition particle 68 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 SRPSMCR "signal recognition particle, Smith Magenis syndrome chromosome region|signal recognition particle 68kDa pseudogene 1" 2010-04-30 2016-06-22 2016-06-22 252841 ENSG00000266129 OTTHUMG00000178995 NG_001591 11997339 PGOHUM00000293969 HGNC:30427 HGNC:30426 SRP68P2 signal recognition particle 68 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 SRPSMCR signal recognition particle 68kDa pseudogene 2 2010-04-30 2016-06-22 2016-06-22 252840 ENSG00000227689 OTTHUMG00000059407 NG_001590 11997339 PGOHUM00000294299 HGNC:30426 HGNC:30428 SRP68P3 signal recognition particle 68 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 SRPSMCR signal recognition particle 68kDa pseudogene 3 2010-04-30 2016-06-22 2016-06-22 347717 ENSG00000237911 OTTHUMG00000130729 NG_002720 11997339 PGOHUM00000293987 HGNC:30428 -HGNC:11303 SRP72 signal recognition particle 72 protein-coding gene gene with protein product Approved 4q12 04q12 signal recognition particle 72kDa "Tetratricopeptide repeat domain containing|Signal recognition particle" "769|1876" 1991-12-05 2016-06-22 2023-01-20 6731 ENSG00000174780 OTTHUMG00000128843 uc003hbv.4 AF069765 NM_001267722 "CCDS3506|CCDS58898" O76094 "9224693|9857079" MGI:1333795 RGD:1564787 LRG_1151|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1151.xml 602122 317739 HGNC:11303 "ENST00000642900.1|NM_006947.4" HGNC:11303 +HGNC:11303 SRP72 signal recognition particle 72 protein-coding gene gene with protein product Approved 4q12 04q12 signal recognition particle 72kDa "Tetratricopeptide repeat domain containing|Signal recognition particle" "769|1876" 1991-12-05 2016-06-22 2023-01-20 6731 ENSG00000174780 OTTHUMG00000128843 uc003hbv.4 AF069765 NM_001267722 "CCDS58898|CCDS3506" O76094 "9224693|9857079" MGI:1333795 RGD:1564787 LRG_1151|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1151.xml 602122 317739 HGNC:11303 "ENST00000642900.1|NM_006947.4" HGNC:11303 HGNC:31095 SRP72P1 signal recognition particle 72 pseudogene 1 pseudogene pseudogene Approved 18q21.1 18q21.1 signal recognition particle 72kDa pseudogene 1 2004-06-09 2016-06-22 2020-04-20 100420752 ENSG00000265182 OTTHUMG00000179681 NG_026292 PGOHUM00000294660 HGNC:31095 HGNC:31096 SRP72P2 signal recognition particle 72 pseudogene 2 pseudogene pseudogene Approved 6q25.3 06q25.3 dJ274L14.2 signal recognition particle 72kDa pseudogene 2 2004-06-09 2016-06-22 2020-04-20 153932 ENSG00000188451 OTTHUMG00000015907 NG_001558 PGOHUM00000243430 HGNC:31096 HGNC:11305 SRPK1 SRSF protein kinase 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 SFRSK1 "SR protein kinase 1|serine/arginine-rich splicing factor kinase 1" SFRS protein kinase 1 1998-03-02 2010-06-23 2023-01-20 6732 ENSG00000096063 OTTHUMG00000014583 uc003olj.4 U09564 NM_003137 CCDS47415 Q96SB4 "8208298|10198174" MGI:106908 RGD:1308272 601939 objectId:2208 HGNC:11305 "ENST00000373825.7|NM_003137.5" -HGNC:11306 SRPK2 SRSF protein kinase 2 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 SFRSK2 "SR protein kinase 2|serine/arginine-rich splicing factor kinase 2" SFRS protein kinase 2 1998-03-02 2010-06-23 2023-01-20 6733 ENSG00000135250 OTTHUMG00000157405 uc003vcu.5 U88666 NM_182691 "CCDS34724|CCDS94172|CCDS94171|CCDS5735" P78362 "8208298|9472028" MGI:1201408 RGD:1305107 602980 objectId:2209 HGNC:11306 "ENST00000393651.8|NM_182692.3" +HGNC:11306 SRPK2 SRSF protein kinase 2 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 SFRSK2 "SR protein kinase 2|serine/arginine-rich splicing factor kinase 2" SFRS protein kinase 2 1998-03-02 2010-06-23 2023-01-20 6733 ENSG00000135250 OTTHUMG00000157405 uc003vcu.5 U88666 NM_182691 "CCDS94172|CCDS94171|CCDS34724|CCDS5735" P78362 "8208298|9472028" MGI:1201408 RGD:1305107 602980 objectId:2209 HGNC:11306 "ENST00000393651.8|NM_182692.3" HGNC:30303 SRPK2P SRSF protein kinase 2 pseudogene pseudogene pseudogene Approved 8q12.3 08q12.3 SRPK2ps SFRS protein kinase 2 pseudogene 2005-03-17 2010-06-23 2014-11-19 100419416 ENSG00000253431 OTTHUMG00000164363 NG_026032 PGOHUM00000249362 HGNC:30303 -HGNC:11402 SRPK3 SRSF protein kinase 3 protein-coding gene gene with protein product Approved Xq28 Xq28 MSSK1 STK23 "serine/threonine kinase 23|SFRS protein kinase 3" 1999-12-01 2006-08-17 2010-06-23 2023-01-20 26576 ENSG00000184343 OTTHUMG00000024207 uc004fil.4 AF027406 NM_014370 "CCDS35441|CCDS55538|CCDS55537" Q9UPE1 16140986 MGI:1891338 RGD:727856 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SRPK3 301002 objectId:2210 HGNC:11402 "ENST00000370101.8|NM_014370.4" HGNC:11402 -HGNC:11307 SRPRA SRP receptor subunit alpha protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "SRP-alpha|Sralpha|SR-alpha" SRPR signal recognition particle receptor (docking protein) 2001-06-22 2015-11-20 2018-04-23 2023-01-20 6734 ENSG00000182934 OTTHUMG00000165826 uc001qdh.4 BC001162 NM_003139 "CCDS53722|CCDS31717" P08240 "3340536|1312991" MGI:1914648 RGD:1311504 182180 HGNC:11307 "ENST00000332118.11|NM_003139.4" HGNC:11307 +HGNC:11402 SRPK3 SRSF protein kinase 3 protein-coding gene gene with protein product Approved Xq28 Xq28 MSSK1 STK23 "serine/threonine kinase 23|SFRS protein kinase 3" 1999-12-01 2006-08-17 2010-06-23 2023-01-20 26576 ENSG00000184343 OTTHUMG00000024207 uc004fil.4 AF027406 NM_014370 "CCDS55538|CCDS35441|CCDS55537" Q9UPE1 16140986 MGI:1891338 RGD:727856 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SRPK3 301002 objectId:2210 HGNC:11402 "ENST00000370101.8|NM_014370.4" HGNC:11402 +HGNC:11307 SRPRA SRP receptor subunit alpha protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "SRP-alpha|Sralpha|SR-alpha" SRPR signal recognition particle receptor (docking protein) 2001-06-22 2015-11-20 2018-04-23 2023-01-20 6734 ENSG00000182934 OTTHUMG00000165826 uc001qdh.4 BC001162 NM_003139 "CCDS31717|CCDS53722" P08240 "3340536|1312991" MGI:1914648 RGD:1311504 182180 HGNC:11307 "ENST00000332118.11|NM_003139.4" HGNC:11307 HGNC:24085 SRPRB SRP receptor subunit beta protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "APMCF1|SR-beta" signal recognition particle receptor, B subunit 2004-01-29 2018-04-23 2023-01-20 58477 ENSG00000144867 OTTHUMG00000159753 uc003epx.2 AK075531 NM_001379313 CCDS3081 Q9Y5M8 "7844142|10859309" MGI:102964 RGD:1304698 616883 HGNC:24085 "ENST00000678299.1|NM_001379313.1" HGNC:11309 SRPX sushi repeat containing protein X-linked protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "ETX1|SRPX1" "sushi-repeat-containing protein, X chromosome|sushi-repeat-containing protein, X-linked" Sushi domain containing 1179 1998-09-14 2018-04-26 2023-01-20 8406 ENSG00000101955 OTTHUMG00000021362 uc004ddy.3 U78093 NM_006307 "CCDS55401|CCDS14245|CCDS55402|CCDS55400" P78539 "8634708|8634709" MGI:1858306 RGD:70950 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SRPX 300187 471150 HGNC:11309 "ENST00000378533.4|NM_006307.5" HGNC:30668 SRPX2 sushi repeat containing protein X-linked 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 SRPUL sushi-repeat-containing protein, X-linked 2 Sushi domain containing 1179 2004-06-25 2018-04-26 2023-01-20 27286 ENSG00000102359 OTTHUMG00000022003 uc004egb.4 AF393649 NM_014467 CCDS14471 O60687 9864177 MGI:1916042 RGD:1562444 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SRPX2 300642 119862 HGNC:30668 "ENST00000373004.5|NM_014467.3" HGNC:30668 HGNC:14398 SRR serine racemase protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "ILV1|ISO1" 2001-01-16 2023-01-20 63826 ENSG00000167720 OTTHUMG00000090583 uc002fue.2 AF169974 NM_021947 CCDS11017 Q9GZT4 "17067558|15953485|15193426|11054547" MGI:1351636 RGD:735094 606477 5.1.1.18 HGNC:14398 "ENST00000344595.10|NM_021947.3" HGNC:33910 SRRD SRR1 domain containing protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "HC/HCC|SRR1L" hepatocellular carcinoma complicating hemochromatosis 2007-12-05 2023-01-20 402055 ENSG00000100104 OTTHUMG00000150885 uc010gve.4 BC066962 NM_001013694 CCDS42995 Q9UH36 MGI:1917368 RGD:1562579 602254 HGNC:33910 "ENST00000215917.11|NM_001013694.3" -HGNC:16638 SRRM1 serine and arginine repetitive matrix 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SRM160|POP101|MGC39488" "Ser/Arg-related nuclear matrix protein|plenty of prolines 101-like" serine/arginine repetitive matrix 1 2001-09-24 2016-03-10 2023-01-20 10250 ENSG00000133226 OTTHUMG00000003320 uc001bjm.4 AF048977 NM_005839 "CCDS90884|CCDS90885|CCDS90883|CCDS90886|CCDS255" Q8IYB3 9531537 MGI:1858303 RGD:1311258 605975 HGNC:16638 "ENST00000323848.14|NM_005839.4" +HGNC:16638 SRRM1 serine and arginine repetitive matrix 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SRM160|POP101|MGC39488" "Ser/Arg-related nuclear matrix protein|plenty of prolines 101-like" serine/arginine repetitive matrix 1 2001-09-24 2016-03-10 2023-01-20 10250 ENSG00000133226 OTTHUMG00000003320 uc001bjm.4 AF048977 NM_005839 "CCDS90886|CCDS255|CCDS90885|CCDS90884|CCDS90883" Q8IYB3 9531537 MGI:1858303 RGD:1311258 605975 HGNC:16638 "ENST00000323848.14|NM_005839.4" HGNC:31861 SRRM1P1 serine/arginine repetitive matrix 1 pseudogene 1 pseudogene pseudogene Approved 8q24.21 08q24.21 "SRRM1L|SRRM1P" "serine/arginine repetitive matrix 1-like|serine/arginine repetitive matrix 1 pseudogene" 2004-12-01 2010-07-07 2010-07-07 2010-07-07 401475 NG_011412 HGNC:31861 HGNC:38163 SRRM1P2 serine/arginine repetitive matrix 1 pseudogene 2 pseudogene pseudogene Approved 3p12.1 03p12.1 2010-04-22 2014-11-19 100420834 ENSG00000242195 OTTHUMG00000158955 NG_022252 PGOHUM00000238089 HGNC:38163 HGNC:38164 SRRM1P3 serine/arginine repetitive matrix 1 pseudogene 3 pseudogene pseudogene Approved Xq26.3 Xq26.3 2010-04-22 2014-11-19 100130190 ENSG00000237307 OTTHUMG00000022520 NG_022643 PGOHUM00000241573 HGNC:38164 @@ -37434,8 +37437,8 @@ HGNC:44162 SRRM2-AS1 SRRM2 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:26729 SRRM3 serine/arginine repetitive matrix 3 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 FLJ37078 2009-09-21 2023-03-15 222183 ENSG00000177679 OTTHUMG00000130489 uc032ztw.2 AK092590 NM_001110199 A6NNA2 MGI:1920309 RGD:1587868 HGNC:26729 "ENST00000611745.2|NM_001110199.3" HGNC:29389 SRRM4 serine/arginine repetitive matrix 4 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 nSR100 neural-specific SR-related protein of 100 kDa KIAA1853 KIAA1853 2006-01-13 2009-09-21 2009-09-21 2023-01-20 84530 ENSG00000139767 OTTHUMG00000168928 uc001txa.2 AB058756 NM_194286 CCDS44994 A7MD48 19737518 MGI:1916205 RGD:1560213 613103 HGNC:29389 "ENST00000267260.5|NM_194286.4" HGNC:37248 SRRM5 serine/arginine repetitive matrix 5 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 2009-09-22 2023-01-20 100170229 ENSG00000226763 OTTHUMG00000165480 uc002oxb.5 AK297891 NM_001145641 CCDS46095 B3KS81 RGD:2323012 HGNC:37248 "ENST00000417606.3|NM_001145641.2" -HGNC:24101 SRRT serrate, RNA effector molecule protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "Asr2|serrate|ARS2" arsenite resistance protein serrate RNA effector molecule homolog (Arabidopsis) 2009-03-02 2014-04-14 2023-01-20 51593 ENSG00000087087 OTTHUMG00000157031 uc032zzv.2 NM_015908 "CCDS47666|CCDS47667|CCDS34709|CCDS47665" Q9BXP5 "11239002|11230166" MGI:1933527 RGD:1591241 614469 HGNC:24101 "ENST00000611405.5|NM_015908.6" -HGNC:10780 SRSF1 serine and arginine rich splicing factor 1 protein-coding gene gene with protein product Approved 17q22 17q22 "ASF|SF2|SRp30a|SF2p33|MGC5228" "splicing factor 2|pre-mRNA-splicing factor SF2, P33 subunit|alternate splicing factor|SR splicing factor 1" SFRS1 "splicing factor, arginine/serine-rich 1|serine/arginine-rich splicing factor 1" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2023-01-20 6426 ENSG00000136450 OTTHUMG00000178781 uc002ivi.4 NM_006924 "CCDS58580|CCDS11600" Q07955 "8530103|20516191" MGI:98283 RGD:1587490 600812 HGNC:10780 "ENST00000258962.5|NM_006924.5" +HGNC:24101 SRRT serrate, RNA effector molecule protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "Asr2|serrate|ARS2" arsenite resistance protein serrate RNA effector molecule homolog (Arabidopsis) 2009-03-02 2014-04-14 2023-01-20 51593 ENSG00000087087 OTTHUMG00000157031 uc032zzv.2 NM_015908 "CCDS47665|CCDS47666|CCDS47667|CCDS34709" Q9BXP5 "11239002|11230166" MGI:1933527 RGD:1591241 614469 HGNC:24101 "ENST00000611405.5|NM_015908.6" +HGNC:10780 SRSF1 serine and arginine rich splicing factor 1 protein-coding gene gene with protein product Approved 17q22 17q22 "ASF|SF2|SRp30a|SF2p33|MGC5228" "splicing factor 2|pre-mRNA-splicing factor SF2, P33 subunit|alternate splicing factor|SR splicing factor 1" SFRS1 "splicing factor, arginine/serine-rich 1|serine/arginine-rich splicing factor 1" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2023-01-20 6426 ENSG00000136450 OTTHUMG00000178781 uc002ivi.4 NM_006924 "CCDS11600|CCDS58580" Q07955 "8530103|20516191" MGI:98283 RGD:1587490 600812 HGNC:10780 "ENST00000258962.5|NM_006924.5" HGNC:39417 SRSF1P1 serine and arginine rich splicing factor 1 pseudogene 1 pseudogene pseudogene Approved 13q21.33 13q21.33 serine/arginine-rich splicing factor 1 pseudogene 1 2010-12-03 2016-06-06 2016-06-06 100128625 ENSG00000224640 OTTHUMG00000017054 NG_011455 HGNC:39417 HGNC:10783 SRSF2 serine and arginine rich splicing factor 2 protein-coding gene gene with protein product Approved 17q25.2 17q25.2 "SC-35|SC35|PR264|SFRS2A" SR splicing factor 2 SFRS2 "splicing factor, arginine/serine-rich 2|serine/arginine-rich splicing factor 2" "RNA binding motif containing|Serine and arginine rich splicing factors|MicroRNA protein coding host genes" "725|737|1691" 1993-09-17 2010-06-22 2016-06-06 2023-01-20 6427 ENSG00000161547 OTTHUMG00000177547 uc002jsy.5 M90104 NM_003016 CCDS11749 Q01130 "8530103|20516191" MGI:98284 RGD:1359422 LRG_640|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_640.xml SRSF2 600813 471152 HGNC:10783 "ENST00000359995.10|NM_001195427.2" HGNC:54922 SRSF2P1 SRSF2 pseudogene 1 pseudogene pseudogene Approved Xp21.1 Xp21.1 2020-04-24 2020-04-24 392439 ENSG00000236072 NG_022653 @@ -37446,25 +37449,25 @@ HGNC:54693 SRSF3P4 SRSF3 pseudogene 4 pseudogene pseudogene Approved 2q12.2 02q1 HGNC:54694 SRSF3P5 SRSF3 pseudogene 5 pseudogene pseudogene Approved 2q12.3 02q12.3 2019-11-28 2019-11-28 100128964 ENSG00000235325 HGNC:54695 SRSF3P6 SRSF3 pseudogene 6 pseudogene pseudogene Approved 2q13 02q13 2019-11-28 2019-11-28 107985790 ENSG00000233307 HGNC:10786 SRSF4 serine and arginine rich splicing factor 4 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 SRP75 SR splicing factor 4 SFRS4 "splicing factor, arginine/serine-rich 4|serine/arginine-rich splicing factor 4" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2023-01-20 6429 ENSG00000116350 OTTHUMG00000003663 uc001bro.4 BC002781 NM_005626 CCDS333 Q08170 "8321209|20516191" MGI:1890577 RGD:1561347 601940 HGNC:10786 "ENST00000373795.7|NM_005626.5" -HGNC:10787 SRSF5 serine and arginine rich splicing factor 5 protein-coding gene gene with protein product Approved 14q24 14q24 "SRP40|HRS" SR splicing factor 5 SFRS5 "splicing factor, arginine/serine-rich 5|serine/arginine-rich splicing factor 5" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2023-01-20 6430 ENSG00000100650 OTTHUMG00000171235 uc001xll.4 AF020307 NM_001039465 "CCDS91892|CCDS32109" Q13243 "7686911|20516191" MGI:98287 RGD:3664 600914 HGNC:10787 "ENST00000557154.6|NM_001320214.2" +HGNC:10787 SRSF5 serine and arginine rich splicing factor 5 protein-coding gene gene with protein product Approved 14q24 14q24 "SRP40|HRS" SR splicing factor 5 SFRS5 "splicing factor, arginine/serine-rich 5|serine/arginine-rich splicing factor 5" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2023-01-20 6430 ENSG00000100650 OTTHUMG00000171235 uc001xll.4 AF020307 NM_001039465 "CCDS32109|CCDS91892" Q13243 "7686911|20516191" MGI:98287 RGD:3664 600914 HGNC:10787 "ENST00000557154.6|NM_001320214.2" HGNC:10788 SRSF6 serine and arginine rich splicing factor 6 protein-coding gene gene with protein product Approved 20q13.11 20q13.11 "SRP55|B52" "pre-mRNA splicing factor SRP55|SR splicing factor 6" SFRS6 "splicing factor, arginine/serine-rich 6|serine/arginine-rich splicing factor 6" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2023-01-20 6431 ENSG00000124193 OTTHUMG00000032502 uc010zwg.3 U30883 NM_006275 CCDS13318 Q13247 "7556075|20516191" MGI:1915246 RGD:1359241 601944 HGNC:10788 "ENST00000244020.5|NM_006275.6" HGNC:54946 SRSF6P1 SRSF6 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-05-01 2020-05-01 100128442 ENSG00000215286 NG_022660 HGNC:54947 SRSF6P2 SRSF6 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2020-05-01 2020-05-01 644422 ENSG00000235554 NG_022444 -HGNC:10789 SRSF7 serine and arginine rich splicing factor 7 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "9G8|ZCRB2|HSSG1|AAG3|RBM37|ZCCHC20" SR splicing factor 7 SFRS7 "splicing factor, arginine/serine-rich 7 (35kD)|splicing factor, arginine/serine-rich 7, 35kDa|serine/arginine-rich splicing factor 7" "Zinc fingers CCHC-type|RNA binding motif containing|Serine and arginine rich splicing factors" "74|725|737" 1994-08-31 2010-06-22 2016-06-06 2023-03-15 6432 ENSG00000115875 OTTHUMG00000102076 uc002rqz.3 L41887 NM_001031684 "CCDS56115|CCDS86832|CCDS33183" Q16629 "8013463|20516191" MGI:1926232 RGD:1307425 600572 HGNC:10789 "ENST00000313117.11|NM_001031684.3" +HGNC:10789 SRSF7 serine and arginine rich splicing factor 7 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "9G8|ZCRB2|HSSG1|AAG3|RBM37|ZCCHC20" SR splicing factor 7 SFRS7 "splicing factor, arginine/serine-rich 7 (35kD)|splicing factor, arginine/serine-rich 7, 35kDa|serine/arginine-rich splicing factor 7" "Zinc fingers CCHC-type|RNA binding motif containing|Serine and arginine rich splicing factors" "74|725|737" 1994-08-31 2010-06-22 2016-06-06 2023-03-15 6432 ENSG00000115875 OTTHUMG00000102076 uc002rqz.3 L41887 NM_001031684 "CCDS86832|CCDS56115|CCDS33183" Q16629 "8013463|20516191" MGI:1926232 RGD:1307425 600572 HGNC:10789 "ENST00000313117.11|NM_001031684.3" HGNC:16988 SRSF8 serine and arginine rich splicing factor 8 protein-coding gene gene with protein product Approved 11q21 11q21 SRP46 SR splicing factor 8 SFRS2B "splicing factor, arginine/serine-rich 2B|serine/arginine-rich splicing factor 8" Serine and arginine rich splicing factors 737 2006-08-04 2010-06-22 2016-06-06 2023-01-20 10929 ENSG00000263465 OTTHUMG00000188534 uc031ybj.2 AF031166 NM_032102 CCDS73370 Q9BRL6 "9671500|20516191" MGI:3045300 603269 HGNC:16988 "ENST00000587424.3|NM_032102.4" HGNC:55910 SRSF8BP serine and arginine rich splicing factor 8B, pseudogene pseudogene pseudogene Approved 11q21 11q21 2021-10-07 2021-10-07 643118 ENSG00000256779 NG_030282 HGNC:55911 SRSF8CP serine and arginine rich splicing factor 8C, pseudogene pseudogene pseudogene Approved 7p12.3 07p12.3 2021-10-07 2021-10-07 2021-10-07 647145 ENSG00000214754 NG_006620 HGNC:10791 SRSF9 serine and arginine rich splicing factor 9 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 SRp30c SR splicing factor 9 SFRS9 "splicing factor, arginine/serine-rich 9|serine/arginine-rich splicing factor 9" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1998-11-19 2010-06-22 2016-06-06 2023-01-20 8683 ENSG00000111786 OTTHUMG00000047790 uc001tyi.4 U30825 NM_003769 CCDS9199 Q13242 "7556075|20516191" MGI:104896 RGD:1309495 601943 HGNC:10791 "ENST00000229390.8|NM_003769.3" HGNC:10792 SRSF9P1 serine and arginine rich splicing factor 9 pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 SFRS9P1 "splicing factor, arginine/serine-rich 9 pseudogene 1|serine/arginine-rich splicing factor 9 pseudogene 1" 2000-05-23 2010-06-23 2016-06-06 2016-06-06 54021 ENSG00000214867 OTTHUMG00000086621 NG_000902 PGOHUM00000239077 HGNC:10792 -HGNC:16713 SRSF10 serine and arginine rich splicing factor 10 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "TASR1|TASR2|SRp38|SRrp40|SFRS13|PPP1R149" "splicing factor, arginine/serine-rich 13|SR splicing factor 10|protein phosphatase 1, regulatory subunit 149" "FUSIP2|FUSIP1|SFRS13A" "FUS-interacting protein (serine-arginine rich) 2|FUS interacting protein (serine/arginine-rich) 1|splicing factor, arginine/serine-rich 13A|neural-salient SR protein|serine/arginine-rich splicing factor 10" "Protein phosphatase 1 regulatory subunits|RNA binding motif containing|Serine and arginine rich splicing factors" "694|725|737" 2001-10-19 2010-06-22 2016-06-06 2023-01-20 10772 ENSG00000188529 OTTHUMG00000013893 uc057dig.1 AF047448 NM_006625 "CCDS30629|CCDS53280|CCDS53281|CCDS30630|CCDS53282|CCDS72728|CCDS53283" O75494 "11891055|20516191" MGI:1333805 RGD:1311067 605221 HGNC:16713 "ENST00000492112.3|NM_054016.4" +HGNC:16713 SRSF10 serine and arginine rich splicing factor 10 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "TASR1|TASR2|SRp38|SRrp40|SFRS13|PPP1R149" "splicing factor, arginine/serine-rich 13|SR splicing factor 10|protein phosphatase 1, regulatory subunit 149" "FUSIP2|FUSIP1|SFRS13A" "FUS-interacting protein (serine-arginine rich) 2|FUS interacting protein (serine/arginine-rich) 1|splicing factor, arginine/serine-rich 13A|neural-salient SR protein|serine/arginine-rich splicing factor 10" "Protein phosphatase 1 regulatory subunits|RNA binding motif containing|Serine and arginine rich splicing factors" "694|725|737" 2001-10-19 2010-06-22 2016-06-06 2023-01-20 10772 ENSG00000188529 OTTHUMG00000013893 uc057dig.1 AF047448 NM_006625 "CCDS72728|CCDS53281|CCDS53282|CCDS30629|CCDS53280|CCDS53283|CCDS30630" O75494 "11891055|20516191" MGI:1333805 RGD:1311067 605221 HGNC:16713 "ENST00000492112.3|NM_054016.4" HGNC:31002 SRSF10P1 serine and arginine rich splicing factor 10 pseudogene 1 pseudogene pseudogene Approved 18q21.2 18q21.2 HsT2687 "FUSIP1P|SFRS13AP1" "FUS interacting protein (serine/arginine-rich) 1 pseudogene|splicing factor, arginine/serine-rich 13A 1 pseudogene|serine/arginine-rich splicing factor 10 pseudogene 1" 2004-01-05 2010-06-22 2016-06-06 2017-10-26 100130799 ENSG00000267717 OTTHUMG00000180041 NG_030046 PGOHUM00000294661 HGNC:31002 HGNC:24823 SRSF10P2 serine and arginine rich splicing factor 10 pseudogene 2 pseudogene pseudogene Approved 20p12.3 20p12.3 "FUSIP1P2|SFRS13AP2" "FUS interacting protein (serine/arginine-rich) 1 pseudogene 2|splicing factor, arginine/serine-rich 13A pseudogene 2|serine/arginine-rich splicing factor 10 pseudogene 2" 2007-07-31 2010-06-22 2016-06-06 2016-06-06 171472 NG_001017 HGNC:24823 -HGNC:10782 SRSF11 serine and arginine rich splicing factor 11 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "p54|NET2" SR splicing factor 11 SFRS11 "splicing factor, arginine/serine-rich 11|serine/arginine-rich splicing factor 11" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1999-03-09 2010-06-22 2016-06-06 2023-01-20 9295 ENSG00000116754 OTTHUMG00000009342 uc001des.4 M74002 NM_004768 "CCDS53332|CCDS647|CCDS90976" Q05519 "1896467|20516191" MGI:1916457 RGD:1559953 602010 HGNC:10782 "ENST00000370949.2|NM_001350605.2" +HGNC:10782 SRSF11 serine and arginine rich splicing factor 11 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "p54|NET2" SR splicing factor 11 SFRS11 "splicing factor, arginine/serine-rich 11|serine/arginine-rich splicing factor 11" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1999-03-09 2010-06-22 2016-06-06 2023-01-20 9295 ENSG00000116754 OTTHUMG00000009342 uc001des.4 M74002 NM_004768 "CCDS647|CCDS90976|CCDS53332" Q05519 "1896467|20516191" MGI:1916457 RGD:1559953 602010 HGNC:10782 "ENST00000370949.2|NM_001350605.2" HGNC:49884 SRSF11P1 serine and arginine rich splicing factor 11 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 serine/arginine-rich splicing factor 11 pseudogene 1 2014-03-18 2016-06-06 2016-06-06 100421296 NG_024068 PGOHUM00000239698 HGNC:49884 HGNC:21220 SRSF12 serine and arginine rich splicing factor 12 protein-coding gene gene with protein product Approved 6q15 06q15 "SRrp35|SFRS19" "splicing factor, arginine/serine-rich 19|SR splicing factor 12" SFRS13B "splicing factor, arginine/serine-rich 13B|serine/arginine-rich splicing factor 12" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 2009-09-09 2010-06-22 2016-06-06 2023-01-20 135295 ENSG00000154548 OTTHUMG00000015192 uc063qaq.1 AF449428 NM_080743 CCDS47459 Q8WXF0 "11684676|20516191" MGI:2661424 RGD:1561162 HGNC:21220 "ENST00000452027.3|NM_080743.5" HGNC:16132 SRXN1 sulfiredoxin 1 protein-coding gene gene with protein product Approved 20p13 20p13 "Npn3|SRX1|YKL086W|dJ850E9.2" C20orf139 "chromosome 20 open reading frame 139|sulfiredoxin 1 homolog (S. cerevisiae)" 2001-07-17 2005-05-10 2010-06-24 2023-01-20 140809 ENSG00000271303 OTTHUMG00000031644 uc002wea.5 AF075053 NM_080725 CCDS13005 Q9BYN0 MGI:104971 RGD:1307332 617583 HGNC:16132 "ENST00000381962.4|NM_080725.3" HGNC:11311 SRY sex determining region Y protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 TDF testis-determining factor SRY-box transcription factors 757 1990-09-10 2023-01-20 6736 ENSG00000184895 OTTHUMG00000036084 uc004fqg.3 NM_003140 CCDS14772 Q05066 18454134 MGI:98660 RGD:3759 480000 119865 HGNC:11311 "ENST00000383070.2|NM_003140.3" HGNC:11311 -HGNC:11340 SS18 SS18 subunit of BAF chromatin remodeling complex protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "SYT|SMARCL1" SSXT "synovial sarcoma translocation, chromosome 18|SS18, nBAF chromatin remodeling complex subunit" "BAF complex|GBAF complex" "1604|1606" 1995-03-06 2019-01-25 2023-01-20 6760 ENSG00000141380 OTTHUMG00000179425 uc002kvm.4 X79201 NM_001007559 "CCDS54183|CCDS77168|CCDS32807" Q15532 "8152806|7951320|16484776" MGI:107708 RGD:1311919 SS18 600192 119868 HGNC:11340 "ENST00000415083.7|NM_001007559.3" +HGNC:11340 SS18 SS18 subunit of BAF chromatin remodeling complex protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "SYT|SMARCL1" SSXT "synovial sarcoma translocation, chromosome 18|SS18, nBAF chromatin remodeling complex subunit" "BAF complex|GBAF complex" "1604|1606" 1995-03-06 2019-01-25 2023-01-20 6760 ENSG00000141380 OTTHUMG00000179425 uc002kvm.4 X79201 NM_001007559 "CCDS77168|CCDS32807|CCDS54183" Q15532 "8152806|7951320|16484776" MGI:107708 RGD:1311919 SS18 600192 119868 HGNC:11340 "ENST00000415083.7|NM_001007559.3" HGNC:15592 SS18L1 SS18L1 subunit of BAF chromatin remodeling complex protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "KIAA0693|CREST|SMARCL2" calcium-responsive transactivator "synovial sarcoma translocation gene on chromosome 18-like 1|SS18L1, nBAF chromatin remodeling complex subunit" BAF complex 1604 2001-04-26 2019-01-25 2023-01-20 26039 ENSG00000184402 OTTHUMG00000032902 uc002ycb.4 AB014593 NM_001301778 CCDS13491 O75177 MGI:2444061 RGD:621847 SS18L1 606472 HGNC:15592 "ENST00000331758.8|NM_198935.3" HGNC:15592 HGNC:15593 SS18L2 SS18 like 2 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 KIAA-iso SYT homolog 2 synovial sarcoma translocation gene on chromosome 18-like 2 2001-04-26 2016-04-29 2023-01-20 51188 ENSG00000008324 OTTHUMG00000131794 uc062iqb.1 AF201950 NM_016305 CCDS2701 Q9UHA2 11435705 MGI:1349474 RGD:1590139 606473 HGNC:15593 "ENST00000011691.6|NM_001370300.1" HGNC:44965 SS18L2P1 SS18 like 2 pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 1 2012-12-20 2016-04-29 2016-04-29 646213 ENSG00000232525 OTTHUMG00000017946 NG_005608 PGOHUM00000238720 HGNC:44965 @@ -37476,8 +37479,8 @@ HGNC:54985 SSBL4P small RNA binding exonuclease protection factor La like 4, pse HGNC:54986 SSBL5P small RNA binding exonuclease protection factor La like 5, pseudogene pseudogene pseudogene Approved 7p21.3 07p21.3 SSB like 5, pseudogene 2020-05-14 2021-03-25 2021-03-25 389465 ENSG00000236048 NG_008696 HGNC:56574 SSBL6P small RNA binding exonuclease protection factor La like 6, pseudogene pseudogene pseudogene Approved 3q26.1 03q26.1 2022-11-03 2022-11-03 127482546 ENSG00000244429 NG_148552 PGOHUM00000299650 HGNC:11317 SSBP1 single stranded DNA binding protein 1 protein-coding gene gene with protein product Approved 7q34 07q34 "SSBP|mtSSB" "single-stranded DNA-binding protein|single-stranded DNA binding protein 1|single-stranded DNA binding protein 1, mitochondrial" 1994-09-29 2016-03-18 2023-01-20 6742 ENSG00000106028 OTTHUMG00000157572 uc064iri.1 M94556 NM_003143 CCDS5866 Q04837 7789991 MGI:1920040 RGD:3760 600439 HGNC:11317 "ENST00000265304.11|NM_003143.3" HGNC:11317 -HGNC:15831 SSBP2 single stranded DNA binding protein 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 HSPC116 "single-stranded DNA-binding protein 2|single-stranded DNA binding protein 2" Wnt enhanceosome complex 1677 2001-06-14 2016-03-18 2023-01-20 23635 ENSG00000145687 OTTHUMG00000119039 uc003kho.5 AF077048 NM_012446 "CCDS58961|CCDS4056|CCDS75268|CCDS58960|CCDS58962|CCDS58963" P81877 "11230166|11042152" MGI:1914220 RGD:1562968 607389 HGNC:15831 "ENST00000615665.5|NM_001256732.3" -HGNC:15674 SSBP3 single stranded DNA binding protein 3 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "CSDP|SSDP|FLJ10355|SSDP1" single-stranded DNA-binding protein 3 Wnt enhanceosome complex 1677 2002-01-29 2001-11-28 2023-01-20 23648 ENSG00000157216 OTTHUMG00000008264 uc001cxe.5 NM_018070 "CCDS90961|CCDS590|CCDS591|CCDS30726" Q9BWW4 12079286 MGI:1919725 RGD:621502 607390 HGNC:15674 +HGNC:15831 SSBP2 single stranded DNA binding protein 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 HSPC116 "single-stranded DNA-binding protein 2|single-stranded DNA binding protein 2" Wnt enhanceosome complex 1677 2001-06-14 2016-03-18 2023-01-20 23635 ENSG00000145687 OTTHUMG00000119039 uc003kho.5 AF077048 NM_012446 "CCDS58962|CCDS58960|CCDS4056|CCDS58961|CCDS58963|CCDS75268" P81877 "11230166|11042152" MGI:1914220 RGD:1562968 607389 HGNC:15831 "ENST00000615665.5|NM_001256732.3" +HGNC:15674 SSBP3 single stranded DNA binding protein 3 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "CSDP|SSDP|FLJ10355|SSDP1" single-stranded DNA-binding protein 3 Wnt enhanceosome complex 1677 2002-01-29 2001-11-28 2023-01-20 23648 ENSG00000157216 OTTHUMG00000008264 uc001cxe.5 NM_018070 "CCDS590|CCDS90961|CCDS591|CCDS30726" Q9BWW4 12079286 MGI:1919725 RGD:621502 607390 HGNC:15674 HGNC:32328 SSBP3-AS1 SSBP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 MSTP128 C1orf191 chromosome 1 open reading frame 191 Antisense RNAs 1987 2005-10-11 2013-08-29 2013-08-29 2014-11-18 619518 ENSG00000198711 OTTHUMG00000008365 AF176918 NR_103541 Q7Z2R9 SSBP3-AS1 HGNC:32328 HGNC:54577 SSBP3P1 SSBP3 pseudogene 1 pseudogene pseudogene Approved 7p14.1 07p14.1 SSBL3P1 2019-10-16 2021-03-25 2021-03-25 100129321 ENSG00000233225 NG_022555 HGNC:54579 SSBP3P2 SSBP3 pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 2019-10-16 2019-10-16 401002 ENSG00000224425 NG_021521 @@ -37485,7 +37488,7 @@ HGNC:15676 SSBP4 single stranded DNA binding protein 4 protein-coding gene gene HGNC:14461 SSC4D scavenger receptor cysteine rich family member with 4 domains protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "SRCRB-S4D|S4D-SRCRB" scavenger receptor cysteine-rich protein SRCRB-S4D SRCRB4D "scavenger receptor cysteine rich domain containing, group B (4 domains)|scavenger receptor cysteine rich family, 4 domains" "Scavenger receptors|Scavenger receptor cysteine rich domain containing" "1253|1404" 2002-01-18 2014-07-09 2016-04-29 2023-01-20 136853 ENSG00000146700 OTTHUMG00000022864 NM_080744 CCDS5585 Q8WTU2 12466895 MGI:1924709 RGD:1306970 607639 HGNC:14461 "ENST00000275560.4|NM_080744.2" HGNC:26641 SSC5D scavenger receptor cysteine rich family member with 5 domains protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ35258|S5D-SRCRB" soluble scavenger with 5 domains scavenger receptor cysteine rich domain containing (5 domains) "Scavenger receptors|Scavenger receptor cysteine rich domain containing" "1253|1404" 2011-01-28 2016-04-29 2023-01-20 284297 ENSG00000179954 OTTHUMG00000180855 uc002qlg.5 NM_001144950 "CCDS59424|CCDS46196" A1L4H1 19535143 MGI:3606211 RGD:1565772 618194 HGNC:26641 "ENST00000389623.11|NM_001144950.2" HGNC:30579 SSH1 slingshot protein phosphatase 1 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "KIAA1298|SSH1L" slingshot homolog 1 (Drosophila) "Slingshot protein phosphatases|MicroRNA protein coding host genes" "898|1691" 2004-06-15 2013-03-05 2023-01-20 54434 ENSG00000084112 OTTHUMG00000169371 uc001tnm.4 BC062341 NM_018984 "CCDS9121|CCDS53825|CCDS55882" Q8WYL5 "10718198|11832213" MGI:2686240 RGD:1306038 606778 HGNC:30579 "ENST00000326495.10|NM_018984.4" -HGNC:30580 SSH2 slingshot protein phosphatase 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 KIAA1725 slingshot homolog 2 (Drosophila) Slingshot protein phosphatases 898 2004-06-15 2013-03-05 2023-01-20 85464 ENSG00000141298 OTTHUMG00000132752 uc002heo.3 AB072359 NM_033389 "CCDS11253|CCDS92286|CCDS74024" Q76I76 "11832213|11214970" MGI:2679255 RGD:1309389 606779 471154 HGNC:30580 "ENST00000540801.6|NM_001282129.2" +HGNC:30580 SSH2 slingshot protein phosphatase 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 KIAA1725 slingshot homolog 2 (Drosophila) Slingshot protein phosphatases 898 2004-06-15 2013-03-05 2023-01-20 85464 ENSG00000141298 OTTHUMG00000132752 uc002heo.3 AB072359 NM_033389 "CCDS74024|CCDS11253|CCDS92286" Q76I76 "11832213|11214970" MGI:2679255 RGD:1309389 606779 471154 HGNC:30580 "ENST00000540801.6|NM_001282129.2" HGNC:30581 SSH3 slingshot protein phosphatase 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "FLJ20515|FLJ10928" slingshot homolog 3 (Drosophila) Slingshot protein phosphatases 898 2004-06-15 2013-03-05 2023-01-20 54961 ENSG00000172830 OTTHUMG00000167105 uc001okj.4 AF085851 NM_018276 CCDS8157 Q8TE77 11832213 MGI:2683546 RGD:1308679 606780 HGNC:30581 "ENST00000308127.9|NM_017857.4" HGNC:29580 SSMEM1 serine rich single-pass membrane protein 1 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 FLJ40316 C7orf45 chromosome 7 open reading frame 45 2006-08-21 2013-03-08 2016-06-06 2023-01-20 136263 ENSG00000165120 OTTHUMG00000157844 uc003vpp.4 AK097635 NM_145268 CCDS5816 Q8WWF3 32301969 MGI:1922897 RGD:1559502 HGNC:29580 "ENST00000297819.4|NM_145268.4" HGNC:11321 SSNA1 SS nuclear autoantigen 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NA14|N14" "Sjogren's syndrome nuclear autoantigen 1|Sjogren syndrome nuclear autoantigen 1" 1999-12-08 2016-05-19 2023-01-20 8636 ENSG00000176101 OTTHUMG00000020982 uc004cls.3 Z96932 NM_003731 CCDS7034 O43805 9430706 MGI:1915725 RGD:1310259 610882 HGNC:11321 "ENST00000322310.10|NM_003731.3" @@ -37495,7 +37498,7 @@ HGNC:11323 SSR1 signal sequence receptor subunit 1 protein-coding gene gene with HGNC:39273 SSR1P1 signal sequence receptor subunit 1 pseudogene 1 pseudogene pseudogene Approved 6q25.1 06q25.1 signal sequence receptor, alpha pseudogene 1 2010-11-24 2016-05-05 2016-05-05 100420476 ENSG00000220598 OTTHUMG00000015819 NG_016007 PGOHUM00000243417 HGNC:39273 HGNC:39274 SSR1P2 signal sequence receptor subunit 1 pseudogene 2 pseudogene pseudogene Approved 13q22.2 13q22.2 signal sequence receptor, alpha pseudogene 2 2010-11-24 2016-05-05 2016-05-05 100131189 ENSG00000226665 OTTHUMG00000017084 NG_021969 PGOHUM00000248634 HGNC:39274 HGNC:11324 SSR2 signal sequence receptor subunit 2 protein-coding gene gene with protein product Approved 1q22 01q22 "TLAP|TRAPB" translocon-associated protein beta signal sequence receptor, beta (translocon-associated protein beta) 1995-01-17 2016-05-05 2023-01-20 6746 ENSG00000163479 OTTHUMG00000017456 uc001fmx.4 BC000341 NM_003145 CCDS1126 P43308 7789174 MGI:1913506 RGD:1308365 600867 HGNC:11324 "ENST00000295702.9|NM_003145.4" -HGNC:11325 SSR3 signal sequence receptor subunit 3 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 TRAPG translocon-associated protein gamma signal sequence receptor, gamma (translocon-associated protein gamma) 1997-11-04 2016-05-05 2023-01-20 6747 ENSG00000114850 OTTHUMG00000158632 uc003fau.3 BC017203 NM_007107 "CCDS3176|CCDS82865|CCDS77846" Q9UNL2 MGI:1914687 RGD:621630 606213 HGNC:11325 "ENST00000265044.7|NM_007107.5" +HGNC:11325 SSR3 signal sequence receptor subunit 3 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 TRAPG translocon-associated protein gamma signal sequence receptor, gamma (translocon-associated protein gamma) 1997-11-04 2016-05-05 2023-01-20 6747 ENSG00000114850 OTTHUMG00000158632 uc003fau.3 BC017203 NM_007107 "CCDS3176|CCDS77846|CCDS82865" Q9UNL2 MGI:1914687 RGD:621630 606213 HGNC:11325 "ENST00000265044.7|NM_007107.5" HGNC:11326 SSR4 signal sequence receptor subunit 4 protein-coding gene gene with protein product Approved Xq28 Xq28 TRAPD translocon-associated protein delta signal sequence receptor, delta 1997-11-04 2016-05-05 2023-01-20 6748 ENSG00000180879 OTTHUMG00000024212 uc065bwy.1 BC032351 NM_006280 CCDS14731 P51571 9286695 MGI:1099464 RGD:62034 300090 377052 HGNC:11326 "ENST00000370086.8|NM_006280.3" HGNC:11326 HGNC:23131 SSR4P1 signal sequence receptor subunit 4 pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 "PRED90|MGC10960|PRED57" C21orf122 "chromosome 21 open reading frame 122|signal sequence receptor, delta pseudogene 1" 2003-10-01 2011-08-31 2016-05-05 2020-04-20 728039 ENSG00000235374 OTTHUMG00000090297 BC004343 NR_027292 PGOHUM00000239095 HGNC:23131 HGNC:11327 SSRP1 structure specific recognition protein 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 FACT80 facilitates chromatin remodeling 80 kDa subunit 1994-07-21 2023-01-20 6749 ENSG00000149136 OTTHUMG00000167024 uc001njt.3 M86737 NM_003146 CCDS7952 Q08945 1372440 MGI:107912 RGD:621143 604328 HGNC:11327 "ENST00000278412.7|NM_003146.3" @@ -37518,12 +37521,12 @@ HGNC:43625 SSU72P6 SSU72 pseudogene 6 pseudogene pseudogene Approved 11p15.4 11p HGNC:24809 SSUH2 ssu-2 homolog protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "fls485|ssu-2" C3orf32 "chromosome 3 open reading frame 32|ssu-2 homolog (C. elegans)" 2005-12-30 2012-11-05 2019-03-26 2023-01-20 51066 ENSG00000125046 OTTHUMG00000122075 uc003bqy.5 AB024705 NM_015931 "CCDS2568|CCDS58815" Q9Y2M2 "20205943|27680507" MGI:2443733 RGD:1562010 617479 HGNC:24809 "ENST00000544814.7|NM_001256748.3" HGNC:24809 HGNC:11335 SSX1 SSX family member 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 CT5.1 cancer/testis antigen family 5, member 1 synovial sarcoma, X breakpoint 1 SSX family 1833 1995-07-06 2016-05-20 2023-01-20 6756 ENSG00000126752 OTTHUMG00000021488 uc004djb.2 BC001003 NM_005635 CCDS14290 Q16384 7655467 "MGI:1915235|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446775|MGI:2446777|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SSX1 SSX1 312820 119874 HGNC:11335 "ENST00000376919.4|NM_005635.4" HGNC:11336 SSX2 SSX family member 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "HOM-MEL-40|HD21|MGC3884|MGC15364|MGC119055|CT5.2a" "sarcoma, synovial, X-chromosome-related 2|synovial sarcoma, X breakpoint 2B|synovial sarcoma, X breakpoint 2, isoform b|cancer/testis antigen family 5, member 2a" SSX synovial sarcoma, X breakpoint 2 SSX family 1833 1995-03-06 2016-05-20 2023-01-20 6757 ENSG00000241476 OTTHUMG00000022697 uc004dqz.3 Z49105 NM_003147 "CCDS14344|CCDS14345" Q16385 8840996 "MGI:1915235|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" SSX2 300192 158446 HGNC:11336 "ENST00000337502.6|NM_175698.4" -HGNC:22263 SSX2B SSX family member 2B protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CT5.2b cancer/testis antigen family 5, member 2b synovial sarcoma, X breakpoint 2B SSX family 1833 2007-08-03 2016-05-20 2023-01-20 727837 ENSG00000268447 OTTHUMG00000021593 uc064zil.1 NM_001164417 "CCDS65267|CCDS48129" Q16385 "MGI:1915235|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" RGD:9097277 HGNC:22263 "ENST00000596480.6|NM_001164417.3" -HGNC:16509 SSX2IP SSX family member 2 interacting protein protein-coding gene gene with protein product Approved 1p22.3 01p22.3 hMsd1 synovial sarcoma, X breakpoint 2 interacting protein 2001-11-12 2016-05-20 2023-01-20 117178 ENSG00000117155 OTTHUMG00000009926 uc001dkj.4 NM_014021 "CCDS53337|CCDS699" Q9Y2D8 MGI:2139150 RGD:708490 608690 HGNC:16509 "ENST00000342203.8|NM_001166293.2" +HGNC:22263 SSX2B SSX family member 2B protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CT5.2b cancer/testis antigen family 5, member 2b synovial sarcoma, X breakpoint 2B SSX family 1833 2007-08-03 2016-05-20 2023-01-20 727837 ENSG00000268447 OTTHUMG00000021593 uc064zil.1 NM_001164417 "CCDS48129|CCDS65267" Q16385 "MGI:1915235|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" RGD:9097277 HGNC:22263 "ENST00000596480.6|NM_001164417.3" +HGNC:16509 SSX2IP SSX family member 2 interacting protein protein-coding gene gene with protein product Approved 1p22.3 01p22.3 hMsd1 synovial sarcoma, X breakpoint 2 interacting protein 2001-11-12 2016-05-20 2023-01-20 117178 ENSG00000117155 OTTHUMG00000009926 uc001dkj.4 NM_014021 "CCDS699|CCDS53337" Q9Y2D8 MGI:2139150 RGD:708490 608690 HGNC:16509 "ENST00000342203.8|NM_001166293.2" HGNC:56463 SSX2IPP1 SSX2IP pseudogene 1 pseudogene pseudogene Approved 3q13.11 03q13.11 2022-10-19 2022-10-19 644681 ENSG00000240107 NG_013117 PGOHUM00000299109 HGNC:11337 SSX3 SSX family member 3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 CT5.3 synovial sarcoma, X breakpoint 3 SSX family 1833 1999-06-10 2016-05-20 2023-03-15 10214 ENSG00000165584 OTTHUMG00000021489 uc004djd.3 U90840 NM_021014 CCDS14291 Q99909 "8697803|9378559" "MGI:1915235|MGI:2446772|MGI:2446773|MGI:2446775|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SSX3 300325 HGNC:11337 "ENST00000298396.7|NM_021014.4" HGNC:11338 SSX4 SSX family member 4 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 CT5.4 synovial sarcoma, X breakpoint 4 SSX family 1833 1996-03-12 2016-05-20 2023-01-20 6759 ENSG00000268009 OTTHUMG00000022698 uc004djf.3 NM_005636 "CCDS35240|CCDS43934" O60224 "MGI:1915235|MGI:2446771|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" SSX4 300326 HGNC:11338 "ENST00000595689.3|NM_005636.4" -HGNC:16880 SSX4B SSX family member 4B protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMT00000056510 synovial sarcoma, X breakpoint 4B SSX family 1833 2005-03-22 2016-05-20 2023-01-20 548313 ENSG00000269791 OTTHUMG00000021497 uc004djh.3 NM_001034832 "CCDS43935|CCDS35241" O60224 "MGI:1915235|MGI:2446771|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" HGNC:16880 "ENST00000595235.6|NM_001034832.5" +HGNC:16880 SSX4B SSX family member 4B protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMT00000056510 synovial sarcoma, X breakpoint 4B SSX family 1833 2005-03-22 2016-05-20 2023-01-20 548313 ENSG00000269791 OTTHUMG00000021497 uc004djh.3 NM_001034832 "CCDS35241|CCDS43935" O60224 "MGI:1915235|MGI:2446771|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" HGNC:16880 "ENST00000595235.6|NM_001034832.5" HGNC:11339 SSX5 SSX family member 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 synovial sarcoma, X breakpoint 5 SSX family 1833 1996-03-12 2016-05-20 2023-01-20 6758 ENSG00000165583 OTTHUMG00000021471 uc004diz.1 BC016640 NM_021015 "CCDS14288|CCDS14289" O60225 "MGI:1915235|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SSX5 300327 HGNC:11339 "ENST00000347757.6|NM_175723.2" HGNC:19652 SSX6P SSX family member 6, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 psiSSX2 "SSXP2|SSX6" "SSX family pseudogene 2|synovial sarcoma, X breakpoint 6|synovial sarcoma, X breakpoint 6 (pseudogene)" SSX family 1833 2002-11-19 2018-05-23 2016-05-20 2023-03-15 280657 ENSG00000171483 OTTHUMG00000021464 BK000686 NR_028366 Q7RTT6 12216073 "MGI:1915235|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446775|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SSX6 300541 HGNC:19652 HGNC:19653 SSX7 SSX family member 7 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 synovial sarcoma, X breakpoint 7 SSX family 1833 2002-11-19 2016-05-20 2023-01-20 280658 ENSG00000187754 OTTHUMG00000021572 uc004dqx.2 BK000687 NM_173358 CCDS14343 Q7RTT5 12216073 "MGI:1915235|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3642927|MGI:3647394|MGI:3650385" 300542 HGNC:19653 "ENST00000298181.6|NM_173358.2" @@ -37544,15 +37547,15 @@ HGNC:10862 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 protein-co HGNC:55372 ST3GAL1-DT ST3GAL1 divergent transcript non-coding RNA RNA, long non-coding Approved 8q24.22 08q24.22 Divergent transcripts 1990 2020-11-11 2020-11-11 119545630 ENSG00000261220 HGNC:45174 ST3GAL1P1 ST3GAL1 pseudogene 1 pseudogene pseudogene Approved 4q13.2 04q13.2 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 pseudogene 1 2013-03-01 2019-11-26 2019-11-26 100421804 ENSG00000250656 OTTHUMG00000160778 NG_025114 PGOHUM00000245551 HGNC:45174 HGNC:10863 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "ST3GALII|ST3GalA.2" SIAT4B sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase) Sialyltransferases 438 1994-09-12 2005-02-07 2003-01-14 2023-01-20 6483 ENSG00000157350 OTTHUMG00000137580 uc002eyx.2 U63090 NM_006927 CCDS10890 Q16842 "9266697|8920913" MGI:99427 RGD:68413 607188 2.4.99.4 HGNC:10863 "ENST00000342907.3|NM_006927.4" -HGNC:10866 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "ST3Gal III|N-acetyllactosaminide alpha-2,3-sialyltransferase" "SIAT6|MRT12" "sialyltransferase 6 (N-acetyllactosaminide alpha 2,3-sialyltransferase)|mental retardation, non-syndromic, autosomal recessive, 12" "Sialyltransferases|MicroRNA protein coding host genes" "438|1691" 1994-09-20 2005-02-07 2005-02-07 2023-01-20 6487 ENSG00000126091 OTTHUMG00000007561 uc001ckc.5 L23768 NM_174963 "CCDS499|CCDS57989|CCDS90936|CCDS53310|CCDS57990|CCDS57991|CCDS85961|CCDS85962|CCDS85964|CCDS57992|CCDS57993|CCDS500|CCDS492|CCDS85965|CCDS493|CCDS495|CCDS57994|CCDS494|CCDS496|CCDS497|CCDS498|CCDS57988" Q11203 "8333853|21907012" MGI:1316659 RGD:68414 606494 285223 2.4.99.6 HGNC:10866 "ENST00000347631.8|NM_006279.5" HGNC:10866 +HGNC:10866 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "ST3Gal III|N-acetyllactosaminide alpha-2,3-sialyltransferase" "SIAT6|MRT12" "sialyltransferase 6 (N-acetyllactosaminide alpha 2,3-sialyltransferase)|mental retardation, non-syndromic, autosomal recessive, 12" "Sialyltransferases|MicroRNA protein coding host genes" "438|1691" 1994-09-20 2005-02-07 2005-02-07 2023-01-20 6487 ENSG00000126091 OTTHUMG00000007561 uc001ckc.5 L23768 NM_174963 "CCDS493|CCDS57994|CCDS90936|CCDS496|CCDS57991|CCDS57988|CCDS57989|CCDS494|CCDS85961|CCDS497|CCDS57992|CCDS85965|CCDS57993|CCDS57990|CCDS53310|CCDS85962|CCDS498|CCDS495|CCDS85964|CCDS499|CCDS500|CCDS492" Q11203 "8333853|21907012" MGI:1316659 RGD:68414 606494 285223 2.4.99.6 HGNC:10866 "ENST00000347631.8|NM_006279.5" HGNC:10866 HGNC:40529 ST3GAL3-AS1 ST3GAL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.1 01p34.1 Antisense RNAs 1987 2020-03-27 2020-03-27 101929592 ENSG00000229444 OTTHUMG00000007703 NR_125986 -HGNC:10864 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "STZ|SAT3|FLJ11867" ST3Gal IV "CGS23|SIAT4|NANTA3|SIAT4C" sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase) Sialyltransferases 438 1988-05-11 2005-02-07 2003-01-14 2023-01-20 6484 ENSG00000110080 OTTHUMG00000165830 uc058izf.1 X74570 NM_006278 "CCDS91621|CCDS91622|CCDS58193|CCDS58194|CCDS8474" Q11206 "8557707|8288606" MGI:1316743 RGD:1303068 104240 2.4.99.4 HGNC:10864 "ENST00000444328.7|NM_001254757.2" -HGNC:10872 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "ST3GalV|SIATGM3S" "ganglioside GM3 synthase|lactosylceramide alpha-2,3-sialyltransferase" SIAT9 sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase) Sialyltransferases 438 1999-06-17 2005-02-07 2005-02-07 2023-01-20 8869 ENSG00000115525 OTTHUMG00000130171 uc002sqq.2 AB018356 NM_003896 "CCDS42705|CCDS86856|CCDS86857|CCDS1986" Q9UNP4 9822625 MGI:1339963 RGD:620875 604402 181124 2.4.99.9 HGNC:10872 "ENST00000638572.2|NM_003896.4" HGNC:10872 +HGNC:10864 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "STZ|SAT3|FLJ11867" ST3Gal IV "CGS23|SIAT4|NANTA3|SIAT4C" sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase) Sialyltransferases 438 1988-05-11 2005-02-07 2003-01-14 2023-01-20 6484 ENSG00000110080 OTTHUMG00000165830 uc058izf.1 X74570 NM_006278 "CCDS8474|CCDS58194|CCDS91622|CCDS58193|CCDS91621" Q11206 "8557707|8288606" MGI:1316743 RGD:1303068 104240 2.4.99.4 HGNC:10864 "ENST00000444328.7|NM_001254757.2" +HGNC:10872 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "ST3GalV|SIATGM3S" "ganglioside GM3 synthase|lactosylceramide alpha-2,3-sialyltransferase" SIAT9 sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase) Sialyltransferases 438 1999-06-17 2005-02-07 2005-02-07 2023-01-20 8869 ENSG00000115525 OTTHUMG00000130171 uc002sqq.2 AB018356 NM_003896 "CCDS42705|CCDS1986|CCDS86857|CCDS86856" Q9UNP4 9822625 MGI:1339963 RGD:620875 604402 181124 2.4.99.9 HGNC:10872 "ENST00000638572.2|NM_003896.4" HGNC:10872 HGNC:51129 ST3GAL5-AS1 ST3GAL5 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Antisense RNAs 1987 2014-07-30 2014-07-30 101928113 ENSG00000232504 OTTHUMG00000153169 NR_110569 ST3GAL5-AS1 HGNC:51129 HGNC:45175 ST3GAL5P1 ST3GAL5 pseudogene 1 pseudogene pseudogene Approved 5p13.3 05p13.3 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 pseudogene 1 2013-03-01 2019-11-26 2019-11-26 100421795 NG_024584 PGOHUM00000235182 HGNC:45175 HGNC:18080 ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 protein-coding gene gene with protein product Approved 3q12.1 03q12.1 ST3GALVI SIAT10 sialyltransferase 10 (alpha-2,3-sialyltransferase VI) Sialyltransferases 438 2003-12-05 2005-02-07 2005-02-07 2023-03-15 10402 ENSG00000064225 OTTHUMG00000159047 uc003dtc.4 AF119391 NM_006100 CCDS2933 Q9Y274 10206952 MGI:1888707 RGD:1303279 607156 2.4.99.- HGNC:18080 "ENST00000483910.6|NM_001323368.2" HGNC:40828 ST3GAL6-AS1 ST3GAL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q12.1 03q12.1 ST3GAL6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-06-25 100874207 ENSG00000239445 OTTHUMG00000159044 uc031sas.2 NR_046683 32218309 ST3GAL6-AS1 HGNC:40828 -HGNC:10860 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 CDw75 ST6Gal I SIAT1 "sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)|ST6 beta-galactosamide alpha-2,6-sialyltranferase 1|ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1" Sialyltransferases 438 1992-04-10 2005-02-07 2016-04-29 2023-01-20 6480 ENSG00000073849 OTTHUMG00000156500 uc003frb.4 X62822 NM_173216 "CCDS3285|CCDS46973" P15907 2408023 MGI:108470 RGD:3676 109675 2.4.99.1 HGNC:10860 "ENST00000169298.8|NM_173216.2" +HGNC:10860 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 CDw75 ST6Gal I SIAT1 "sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)|ST6 beta-galactosamide alpha-2,6-sialyltranferase 1|ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1" Sialyltransferases 438 1992-04-10 2005-02-07 2016-04-29 2023-01-20 6480 ENSG00000073849 OTTHUMG00000156500 uc003frb.4 X62822 NM_173216 "CCDS46973|CCDS3285" P15907 2408023 MGI:108470 RGD:3676 109675 2.4.99.1 HGNC:10860 "ENST00000169298.8|NM_173216.2" HGNC:10861 ST6GAL2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "KIAA1877|St6GalII" SIAT2 "sialyltransferase 2 (monosialoganglioside sialyltransferase)|ST6 beta-galactosamide alpha-2,6-sialyltranferase 2" Sialyltransferases 438 1994-09-20 2005-02-07 2016-04-29 2023-01-20 84620 ENSG00000144057 OTTHUMG00000130923 uc002tdr.3 AB059555 NM_032528 "CCDS46380|CCDS2073" Q96JF0 MGI:2445190 RGD:1559663 608472 2.4.99.2 HGNC:10861 "ENST00000409382.8|NM_001142351.2" HGNC:41380 ST6GAL2-IT1 ST6GAL2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q12.2 02q12.2 ST6GAL2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-08-23 2015-02-25 2015-02-25 100874354 ENSG00000238250 OTTHUMG00000153201 uc061mqq.1 ST6GAL2-IT1 HGNC:23614 ST6GALNAC1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 ST6GalNAcI SIAT7A "sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1|ST6 GalNAc alpha-2,6-sialyltransferase 1" Sialyltransferases 438 2003-12-05 2005-02-07 2016-04-29 2023-01-20 55808 ENSG00000070526 OTTHUMG00000180369 uc002jsh.5 Y11339 NM_018414 CCDS11748 Q9NSC7 MGI:1341826 RGD:1562048 610138 2.4.99.3 HGNC:23614 "ENST00000156626.12|NM_018414.5" @@ -37562,18 +37565,18 @@ HGNC:19343 ST6GALNAC3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 HGNC:17846 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "ST6GALNACIV|SIAT3C" SIAT7D "sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4|ST6 GalNAc alpha-2,6-sialyltransferase 4" Sialyltransferases 438 2001-12-19 2005-02-07 2016-04-29 2023-03-15 27090 ENSG00000136840 OTTHUMG00000020724 uc004bss.3 AB035172 NM_175040 CCDS6883 Q9H4F1 "10207017|11062056" MGI:1341894 RGD:1303005 606378 2.4.99.7 HGNC:17846 "ENST00000335791.10|NM_175039.4" HGNC:39660 ST6GALNAC4P1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 "ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 pseudogene 1|ST6 GalNAc alpha-2,6-sialyltransferase 4 pseudogene 1" 2011-03-18 2016-04-29 2016-04-29 100874524 ENSG00000233469 OTTHUMG00000016501 NG_032337 PGOHUM00000248313 HGNC:39660 HGNC:19342 ST6GALNAC5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "MGC3184|ST6GalNAcV" SIAT7E "sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5|ST6 GalNAc alpha-2,6-sialyltransferase 5" "Sialyltransferases|MicroRNA protein coding host genes" "438|1691" 2003-12-05 2005-02-07 2016-04-29 2023-01-20 81849 ENSG00000117069 OTTHUMG00000009687 uc001dhi.4 NM_030965 CCDS673 Q9BVH7 "10521438|10601645" MGI:1349471 RGD:1564252 610134 2.4.99.- HGNC:19342 "ENST00000477717.6|NM_030965.3" -HGNC:23364 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 ST6GALNACVI SIAT7F "sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6|ST6 GalNAc alpha-2,6-sialyltransferase 6" Sialyltransferases 438 2004-05-11 2005-02-07 2016-04-29 2023-01-20 30815 ENSG00000160408 OTTHUMG00000020718 uc004bso.3 BC006564 NM_013443 "CCDS75908|CCDS69668|CCDS6882|CCDS69669" Q969X2 12668675 MGI:1355316 RGD:1303196 610135 2.4.99.- HGNC:23364 "ENST00000373146.6|NM_013443.5" -HGNC:11351 ST7 suppression of tumorigenicity 7 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "TSG7|SEN4|ETS7q|HELG|RAY1|FAM4A" FAM4A1 MicroRNA protein coding host genes 1691 1999-05-07 2023-01-20 7982 ENSG00000004866 OTTHUMG00000023888 uc003vio.4 AJ277291 NM_021908 "CCDS94186|CCDS94184|CCDS94181|CCDS5769|CCDS94182|CCDS94183|CCDS5770|CCDS94185" Q9NRC1 "8105370|8938430|11279520" MGI:1927450 RGD:1303148 600833 HGNC:11351 "ENST00000323984.8|NM_001369598.1" HGNC:11351 +HGNC:23364 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 ST6GALNACVI SIAT7F "sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6|ST6 GalNAc alpha-2,6-sialyltransferase 6" Sialyltransferases 438 2004-05-11 2005-02-07 2016-04-29 2023-01-20 30815 ENSG00000160408 OTTHUMG00000020718 uc004bso.3 BC006564 NM_013443 "CCDS75908|CCDS6882|CCDS69668|CCDS69669" Q969X2 12668675 MGI:1355316 RGD:1303196 610135 2.4.99.- HGNC:23364 "ENST00000373146.6|NM_013443.5" +HGNC:11351 ST7 suppression of tumorigenicity 7 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "TSG7|SEN4|ETS7q|HELG|RAY1|FAM4A" FAM4A1 MicroRNA protein coding host genes 1691 1999-05-07 2023-01-20 7982 ENSG00000004866 OTTHUMG00000023888 uc003vio.4 AJ277291 NM_021908 "CCDS94181|CCDS94182|CCDS5769|CCDS94186|CCDS94183|CCDS5770|CCDS94185|CCDS94184" Q9NRC1 "8105370|8938430|11279520" MGI:1927450 RGD:1303148 600833 HGNC:11351 "ENST00000323984.8|NM_001369598.1" HGNC:11351 HGNC:16000 ST7-AS1 ST7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 ST7AS1 ST7 overlapping transcript antisense 1 ST7OT1 "ST7 overlapping transcript 1 (antisense non-coding RNA)|ST7 overlapping transcript 1 (non-protein coding)|ST7 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2001-07-13 2011-04-28 2012-08-15 2020-09-09 93653 ENSG00000227199 OTTHUMG00000039524 uc003vim.5 AF400039 NR_002330 "12213198|30853182" st7ot ST7-AS1 HGNC:16000 HGNC:16044 ST7-AS2 ST7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 ST7AS2 ST7 overlapping transcript antisense 2 ST7OT2 "ST7 overlapping transcript 2 (antisense non-coding RNA)|ST7 overlapping transcript 2 (non-protein coding)|ST7 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2001-07-13 2011-04-28 2012-08-15 2016-11-24 93654 ENSG00000226367 OTTHUMG00000039525 uc003viw.5 AF400043 NR_002331 12213198 st7ot ST7-AS2 HGNC:16044 HGNC:16045 ST7-OT3 ST7 overlapping transcript 3 non-coding RNA RNA, long non-coding Approved 7q31.3 07q31.3 NCRNA00026 non-protein coding RNA 26 ST7OT3 ST7 overlapping transcript 3 (non-protein coding) Overlapping transcripts 1988 2001-07-13 2011-08-19 2014-06-02 2016-11-24 93655 AF400044 NR_002332 12213198 st7ot ST7-OT3 HGNC:16045 HGNC:18835 ST7-OT4 ST7 overlapping transcript 4 non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 NCRNA00042 non-protein coding RNA 42 ST7OT4 ST7 overlapping transcript 4 (non-protein coding) Overlapping transcripts 1988 2003-02-25 2011-08-19 2013-03-06 2019-06-28 338069 ENSG00000214188 OTTHUMG00000063631 uc064hil.1 BM413623 NR_002329 12213198 st7ot HGNC:18835 -HGNC:18441 ST7L suppression of tumorigenicity 7 like protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ20284|STLR|ST7R|FAM4B" 2002-04-26 2023-03-15 54879 ENSG00000007341 OTTHUMG00000011753 uc001eci.4 AB081317 NM_001308264 "CCDS76189|CCDS848|CCDS850|CCDS849|CCDS852" Q8TDW4 12012006 MGI:2386964 RGD:1359336 617640 HGNC:18441 "ENST00000358039.9|NM_017744.5" +HGNC:18441 ST7L suppression of tumorigenicity 7 like protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ20284|STLR|ST7R|FAM4B" 2002-04-26 2023-03-15 54879 ENSG00000007341 OTTHUMG00000011753 uc001eci.4 AB081317 NM_001308264 "CCDS850|CCDS849|CCDS848|CCDS76189|CCDS852" Q8TDW4 12012006 MGI:2386964 RGD:1359336 617640 HGNC:18441 "ENST00000358039.9|NM_017744.5" HGNC:10869 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 ST8Sia I "SIAT8|SIAT8A" "sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A|ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 1" Sialyltransferases 438 1994-09-12 2005-02-07 2016-04-29 2023-01-20 6489 ENSG00000111728 OTTHUMG00000169098 uc001rfo.4 L32867 NM_003034 CCDS8697 Q92185 7901202 MGI:106011 RGD:3679 601123 2.4.99.8 HGNC:10869 "ENST00000396037.9|NM_003034.4" HGNC:10870 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "STX|ST8SIA-II|HsT19690" SIAT8B SIAT8B Sialyltransferases 438 1999-06-11 2005-02-07 2016-04-29 2023-01-20 8128 ENSG00000140557 OTTHUMG00000149843 uc002bra.4 U33551 NM_006011 "CCDS81919|CCDS10372" Q92186 7559389 MGI:106020 RGD:621843 602546 HGNC:10870 "ENST00000268164.8|NM_006011.4" HGNC:10870 HGNC:14269 ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 ST8Sia III SIAT8C SIAT8C Sialyltransferases 438 2000-12-19 2005-02-07 2016-04-29 2023-01-20 51046 ENSG00000177511 OTTHUMG00000180101 uc002lgn.4 AF004668 NM_015879 CCDS32834 O43173 MGI:106019 RGD:3680 609478 2.4.99.- HGNC:14269 "ENST00000324000.4|NM_015879.3" HGNC:10871 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "PST|PST1" ST8Sia IV SIAT8D "sialyltransferase 8 (alpha-2, 8-polysialytransferase) D|ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 4" "Sialyltransferases|MicroRNA protein coding host genes" "438|1691" 1999-06-11 2005-02-07 2016-04-29 2023-01-20 7903 ENSG00000113532 OTTHUMG00000128727 uc003knk.5 L41680 NM_005668 "CCDS47252|CCDS4091" Q92187 7624364 MGI:106018 RGD:621845 602547 2.4.99.- HGNC:10871 "ENST00000231461.10|NM_005668.6" -HGNC:17827 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 ST8Sia V SIAT8E SIAT8E Sialyltransferases 438 2002-01-29 2005-02-07 2016-04-29 2023-01-20 29906 ENSG00000101638 OTTHUMG00000132643 uc002lcj.2 U91641 NM_013305 "CCDS11930|CCDS77184|CCDS77183" O15466 9199191 MGI:109243 RGD:1302934 607162 2.4.99.- HGNC:17827 "ENST00000315087.12|NM_013305.6" +HGNC:17827 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 ST8Sia V SIAT8E SIAT8E Sialyltransferases 438 2002-01-29 2005-02-07 2016-04-29 2023-01-20 29906 ENSG00000101638 OTTHUMG00000132643 uc002lcj.2 U91641 NM_013305 "CCDS11930|CCDS77183|CCDS77184" O15466 9199191 MGI:109243 RGD:1302934 607162 2.4.99.- HGNC:17827 "ENST00000315087.12|NM_013305.6" HGNC:55267 ST8SIA5-DT ST8SIA5 divergent transcript non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 Divergent transcripts 1990 2020-10-01 2020-10-01 105372097 ENSG00000270112 XR_001753432 HGNC:23317 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 ST8Sia VI SIAT8F SIAT8F Sialyltransferases 438 2004-03-22 2005-02-07 2016-04-29 2023-01-20 338596 ENSG00000148488 OTTHUMG00000017748 uc001ipd.4 NM_001004470 CCDS31158 P61647 11980897 MGI:2386797 RGD:1303161 610139 2.4.99.- HGNC:23317 "ENST00000377602.5|NM_001004470.3" HGNC:44880 ST8SIA6-AS1 ST8SIA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.33 10p12.33 APAL Aurora A/PLK1 associated lncRNA Antisense RNAs 1987 2012-12-11 2019-07-11 100128098 ENSG00000204832 OTTHUMG00000017746 uc001ipf.2 NR_034129 31286138 ST8SIA6-AS1 HGNC:44880 @@ -37602,19 +37605,19 @@ HGNC:38864 ST13P21 ST13, Hsp70 interacting protein pseudogene 21 pseudogene pseu HGNC:38865 ST13P22 ST13, Hsp70 interacting protein pseudogene 22 pseudogene pseudogene Approved 12q23.2 12q23.2 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 22 2010-09-27 2017-03-01 2017-03-01 100874521 NG_021243 PGOHUM00000239567 HGNC:38865 HGNC:11344 ST14 ST14 transmembrane serine protease matriptase protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "SNC19|HAI|MT-SP1|TMPRSS14|CAP3" "epithin|matriptase|channel–activating protein 3" PRSS14 "suppression of tumorigenicity 14 (colon carcinoma)|suppression of tumorigenicity 14" Type II transmembrane serine proteases 2020 1998-05-05 2020-05-21 2023-01-20 6768 ENSG00000149418 OTTHUMG00000165768 uc001qfw.4 AF118224 NM_021978 CCDS8487 Q9Y5Y6 "9925927|10373424" MGI:1338881 RGD:69288 606797 179413 S01.302 objectId:2418 HGNC:11344 "ENST00000278742.6|NM_021978.4" HGNC:11344 HGNC:18695 ST18 ST18 C2H2C-type zinc finger transcription factor protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "KIAA0535|ZC2HC10|NZF3|NZF-3|ZC2H2C3" neural zinc finger transcription factor 3 ZNF387 "zinc finger protein 387|suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)|suppression of tumorigenicity 18, zinc finger|ST18, C2H2C-type zinc finger" Zinc fingers C2H2C-type 1261 2002-05-28 2002-12-13 2019-02-07 2023-01-20 9705 ENSG00000147488 OTTHUMG00000164233 uc003xra.3 AB011107 NM_001352826 CCDS6149 O60284 "15489893|9478997" MGI:2446700 RGD:708566 617155 HGNC:18695 "ENST00000689386.1|NM_001352837.2" -HGNC:33520 ST20 suppressor of tumorigenicity 20 non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 HCCS-1 human cervical cancer suppressor 1 2007-07-16 2023-03-15 400410 ENSG00000180953 OTTHUMG00000172078 uc059mie.1 AF249277 NR_037652 Q9HBF5 11857354 HGNC:33520 +HGNC:33520 ST20 suppressor of tumorigenicity 20 non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 HCCS-1 human cervical cancer suppressor 1 Long non-coding RNAs with non-systematic symbols 1992 2007-07-16 2023-03-15 400410 ENSG00000180953 OTTHUMG00000172078 uc059mie.1 AF249277 NR_037652 Q9HBF5 11857354 HGNC:33520 HGNC:27521 ST20-AS1 ST20 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 FLJ33788 C15orf37 chromosome 15 open reading frame 37 Antisense RNAs 1987 2005-10-24 2014-10-01 2014-10-01 2014-10-01 283687 ENSG00000259642 OTTHUMG00000172079 AK091107 NR_028330 Q8NBB2 ST20-AS1 HGNC:27521 HGNC:44655 ST20-MTHFS ST20-MTHFS readthrough other readthrough Approved 15q25.1 15q25.1 2012-12-12 2023-03-15 100528021 ENSG00000259332 OTTHUMG00000172077 uc059mhy.1 NM_001199760 HGNC:44655 HGNC:18628 STAB1 stabilin 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "KIAA0246|STAB-1|FEEL-1|CLEVER-1|FELE-1|FEX1|SCARH2" "MS-1 antigen|fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1|common lymphatic endothelial and vascular endothelial receptor-1" Scavenger receptors 1253 2002-09-11 2023-01-20 23166 ENSG00000010327 OTTHUMG00000158574 uc003dej.4 AJ275213 NM_015136 CCDS33768 Q9NY15 "11829752|12077138" MGI:2178742 RGD:2324745 608560 HGNC:18628 "ENST00000321725.10|NM_015136.3" HGNC:18629 STAB2 stabilin 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "DKFZP434E0321|FELL|STAB-2|HARE|FEEL-2|SCARH1" hyaluronic acid receptor for endocytosis Scavenger receptors 1253 2002-09-11 2023-01-20 55576 ENSG00000136011 OTTHUMG00000170056 uc001tjw.4 AF160476 NM_017564 CCDS31888 Q8WWQ8 "11829752|12077138" MGI:2178743 RGD:628822 608561 HGNC:18629 "ENST00000388887.7|NM_017564.10" -HGNC:11353 STAC SH3 and cysteine rich domain protein-coding gene gene with protein product Approved 3p22.3-p22.2 03p22.3-p22.2 STAC1 src homology three (SH3) and cysteine rich domain 1997-08-28 2023-01-20 6769 ENSG00000144681 OTTHUMG00000130798 uc003cgh.2 D86640 NM_003149 "CCDS77722|CCDS2662" Q99469 "8954993|10393425" MGI:1201400 RGD:1305745 602317 HGNC:11353 "ENST00000273183.8|NM_003149.3" +HGNC:11353 STAC SH3 and cysteine rich domain protein-coding gene gene with protein product Approved 3p22.3-p22.2 03p22.3-p22.2 STAC1 src homology three (SH3) and cysteine rich domain 1997-08-28 2023-01-20 6769 ENSG00000144681 OTTHUMG00000130798 uc003cgh.2 D86640 NM_003149 "CCDS2662|CCDS77722" Q99469 "8954993|10393425" MGI:1201400 RGD:1305745 602317 HGNC:11353 "ENST00000273183.8|NM_003149.3" HGNC:23990 STAC2 SH3 and cysteine rich domain 2 protein-coding gene gene with protein product Approved 17q12 17q12 24b2 2004-05-19 2023-01-20 342667 ENSG00000141750 OTTHUMG00000179039 uc002hrs.4 AJ608762 NM_198993 CCDS11335 Q6ZMT1 MGI:2144518 RGD:1305548 HGNC:23990 "ENST00000333461.6|NM_198993.5" -HGNC:28423 STAC3 SH3 and cysteine rich domain 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 MGC2793 2004-05-19 2023-01-20 246329 ENSG00000185482 OTTHUMG00000171271 uc001snp.4 AK057013 NM_145064 "CCDS8936|CCDS66405|CCDS66406" Q96MF2 23818578 MGI:3606571 RGD:1308964 615521 354117 HGNC:28423 "ENST00000332782.7|NM_145064.3" HGNC:28423 +HGNC:28423 STAC3 SH3 and cysteine rich domain 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 MGC2793 2004-05-19 2023-01-20 246329 ENSG00000185482 OTTHUMG00000171271 uc001snp.4 AK057013 NM_145064 "CCDS66406|CCDS8936|CCDS66405" Q96MF2 23818578 MGI:3606571 RGD:1308964 615521 354117 HGNC:28423 "ENST00000332782.7|NM_145064.3" HGNC:28423 HGNC:11354 STAG1 STAG1 cohesin complex component protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "SA-1|SCC3A|SA1" "cohesin subunit SA-1|sister chromatid cohesion 3 homolog (S. cerevisiae) A" stromal antigen 1 "Cohesin complex|Armadillo like helical domain containing|STAG family cohesin complex components" "1060|1492|2239" 1999-04-29 2023-04-20 2023-04-20 10274 ENSG00000118007 OTTHUMG00000159798 uc003era.2 Z75330 NM_005862 CCDS3090 Q8WVM7 9305759 MGI:1098658 RGD:1310744 604358 471156 HGNC:11354 "ENST00000383202.7|NM_005862.3" HGNC:11354 -HGNC:55350 STAG1-DT STAG1 divergent transcript non-coding RNA RNA, long non-coding Approved 3q22.3 03q22.3 Divergent transcripts 1990 2020-11-04 2020-11-04 119139906 ENSG00000261758 +HGNC:55350 STAG1-DT STAG1 divergent transcript non-coding RNA RNA, long non-coding Approved 3q22.3 03q22.3 Divergent transcripts 1990 2020-11-04 2020-11-04 119139906 ENSG00000261758 NR_185911 HGNC:11355 STAG2 STAG2 cohesin complex component protein-coding gene gene with protein product Approved Xq25 Xq25 "SA-2|SCC3B|SA2" "sister chromatid cohesion 3 homolog (S. cerevisiae) B|SA2 stromalin|Cohesin subunit SA-2" stromal antigen 2 "Cohesin complex|Armadillo like helical domain containing|STAG family cohesin complex components" "1060|1492|2239" 1999-04-29 2023-04-20 2023-04-20 10735 ENSG00000101972 OTTHUMG00000022725 uc004eub.5 Z75331 NM_006603 "CCDS14607|CCDS43990" Q8N3U4 "9305759|28296084" MGI:1098583 RGD:1562042 LRG_782|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_782.xml STAG2 300826 471160 HGNC:11355 "ENST00000371145.8|NM_001042750.2" HGNC:11355 HGNC:55727 STAG2-AS1 STAG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq25 Xq25 Antisense RNAs 1987 2021-07-16 2023-04-20 101928402 ENSG00000232412 NR_130770 -HGNC:11356 STAG3 STAG3 cohesin complex component protein-coding gene gene with protein product Approved 7q22.1 07q22.1 SA3 "Cohesin subunit SA-3|stromalin 3" stromal antigen 3 "Cohesin complex|Armadillo like helical domain containing|STAG family cohesin complex components" "1060|1492|2239" 1999-04-29 2023-04-20 2023-04-20 10734 ENSG00000066923 OTTHUMG00000155183 uc032zyz.2 AJ007798 NM_012447 "CCDS75642|CCDS34703|CCDS64730" Q9UJ98 10698974 MGI:1355311 RGD:621333 608489 400662 HGNC:11356 "ENST00000615138.5|NM_001282717.2" +HGNC:11356 STAG3 STAG3 cohesin complex component protein-coding gene gene with protein product Approved 7q22.1 07q22.1 SA3 "Cohesin subunit SA-3|stromalin 3" stromal antigen 3 "Cohesin complex|Armadillo like helical domain containing|STAG family cohesin complex components" "1060|1492|2239" 1999-04-29 2023-04-20 2023-04-20 10734 ENSG00000066923 OTTHUMG00000155183 uc032zyz.2 AJ007798 NM_012447 "CCDS34703|CCDS75642|CCDS64730" Q9UJ98 10698974 MGI:1355311 RGD:621333 608489 400662 HGNC:11356 "ENST00000615138.5|NM_001282717.2" HGNC:33852 STAG3L1 STAG3 cohesin complex component like 1 (pseudogene) pseudogene pseudogene Approved 7q11.23 07q11.23 "DKFZP434A0131|STAG3L1P" "stromal antigen 3-like 1|stromal antigen 3-like 1 (pseudogene)" Armadillo like helical domain containing 1492 2007-11-20 2023-04-20 2023-04-20 54441 ENSG00000205583 OTTHUMG00000155940 NR_040583 P0CL83 HGNC:33852 HGNC:33886 STAG3L2 STAG3 cohesin complex component like 2 (pseudogene) pseudogene pseudogene Approved 7q11.23 07q11.23 "MGC131759|STAG3L2P" "stromal antigen 3-like 2|stromal antigen 3-like 2 (pseudogene)" Armadillo like helical domain containing 1492 2007-11-20 2023-04-20 2023-04-20 442582 ENSG00000277072 OTTHUMG00000156216 NR_040584 P0CL84 HGNC:33886 HGNC:33845 STAG3L3 STAG3 cohesin complex component like 3 (pseudogene) pseudogene pseudogene Approved 7q11.23 07q11.23 STAG3L3P "stromal antigen 3-like 3|stromal antigen 3-like 3 (pseudogene)" Armadillo like helical domain containing 1492 2007-11-20 2023-05-02 2023-05-02 442578 ENSG00000174353 OTTHUMG00000157064 NR_040582 P0CL85 HGNC:33845 @@ -37624,7 +37627,7 @@ HGNC:48898 STAG3L5P-PVRIG2P-PILRB STAG3L5P-PVRIG2P-PILRB readthrough other readt HGNC:11357 STAM signal transducing adaptor molecule protein-coding gene gene with protein product Approved 10p12.33 10p12.33 STAM1 HSE1 homolog (S. cerevisiae) signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 ESCRT-0 1115 1998-10-14 2015-11-19 2023-01-20 8027 ENSG00000136738 OTTHUMG00000017749 uc001ipj.3 U43899 NM_003473 CCDS7122 Q92783 8780729 MGI:1329014 RGD:1564499 601899 HGNC:11357 "ENST00000377524.8|NM_003473.4" HGNC:49568 STAM-DT STAM divergent transcript non-coding RNA RNA, long non-coding Approved 10p12.33 10p12.33 locus3182 locus 3182 STAM-AS1 STAM antisense RNA 1 (head to head) Divergent transcripts 1990 2014-01-11 2020-12-17 2020-12-17 2020-12-17 102723166 ENSG00000260589 OTTHUMG00000176135 AK123677 NR_110370 23382218 STAM-AS1 HGNC:49568 HGNC:11358 STAM2 signal transducing adaptor molecule 2 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 Hbp HSE1 homolog (S. cerevisiae) signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 ESCRT-0 1115 1998-10-14 2015-11-19 2023-01-20 10254 ENSG00000115145 OTTHUMG00000131885 uc002tyc.4 AF042274 NM_005843 CCDS2196 O75886 "10899310|10993906" MGI:1929100 RGD:1311497 606244 HGNC:11358 "ENST00000263904.5|NM_005843.6" -HGNC:16950 STAMBP STAM binding protein protein-coding gene gene with protein product Approved 2p13.1 02p13.1 AMSH JAMM/MPN+ metallopeptidase family 999 2004-02-04 2023-01-20 10617 ENSG00000124356 OTTHUMG00000129817 uc061krg.1 BC007682 NM_006463 "CCDS1929|CCDS92779|CCDS92778" O95630 10383417 MGI:1917777 RGD:619963 606247 353369 M67.006 HGNC:16950 "ENST00000394070.7|NM_213622.4" HGNC:16950 +HGNC:16950 STAMBP STAM binding protein protein-coding gene gene with protein product Approved 2p13.1 02p13.1 AMSH JAMM/MPN+ metallopeptidase family 999 2004-02-04 2023-01-20 10617 ENSG00000124356 OTTHUMG00000129817 uc061krg.1 BC007682 NM_006463 "CCDS92778|CCDS92779|CCDS1929" O95630 10383417 MGI:1917777 RGD:619963 606247 353369 M67.006 HGNC:16950 "ENST00000394070.7|NM_213622.4" HGNC:16950 HGNC:24105 STAMBPL1 STAM binding protein like 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "AMSH-LP|KIAA1373|AMSH-FP|FLJ31524|ALMalpha|bA399O19.2" "associated molecule with the SH3 domain of STAM (AMSH) like protein|associated molecule with the SH3 domain of STAM (AMSH) - Family Protein" STAM binding protein-like 1 JAMM/MPN+ metallopeptidase family 999 2005-10-25 2015-12-04 2023-01-20 57559 ENSG00000138134 OTTHUMG00000018702 uc001kfk.5 AB037794 NM_020799 CCDS7391 Q96FJ0 "12810066|12943674" MGI:1923880 RGD:1583011 612352 M67.003 HGNC:24105 "ENST00000371926.8|NM_020799.4" HGNC:24133 STAP1 signal transducing adaptor family member 1 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 "STAP-1|BRDG1" BCR downstream signaling 1 SH2 domain containing 741 2007-08-09 2007-08-09 2023-01-20 26228 ENSG00000035720 OTTHUMG00000129304 uc003hdf.3 AB023483 NM_012108 CCDS3515 Q9ULZ2 "10518561|10679268" MGI:1926193 RGD:1311584 604298 471162 HGNC:24133 "ENST00000265404.7|NM_012108.4" HGNC:30430 STAP2 signal transducing adaptor family member 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "STAP-2|BKS" 2007-08-09 2007-08-09 2023-01-20 55620 ENSG00000178078 OTTHUMG00000181884 uc060rvu.1 AJ245719 NM_001013841 "CCDS12128|CCDS45926" Q9UGK3 "10980601|11441184" MGI:2147039 RGD:1566020 607881 HGNC:30430 "ENST00000594605.6|NM_001013841.2" @@ -37634,27 +37637,27 @@ HGNC:19169 STARD3NL STARD3 N-terminal like protein-coding gene gene with protein HGNC:18058 STARD4 StAR related lipid transfer domain containing 4 protein-coding gene gene with protein product Approved 5q22.1 05q22.1 START domain containing 4, sterol regulated StAR related lipid transfer domain containing 759 2002-01-24 2015-11-20 2023-01-20 134429 ENSG00000164211 OTTHUMG00000128793 uc003kph.2 AF480299 NM_139164 "CCDS78046|CCDS4104" Q96DR4 12011452 MGI:2156764 RGD:1309475 607049 HGNC:18058 "ENST00000296632.8|NM_139164.3" HGNC:44117 STARD4-AS1 STARD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q22.1 05q22.1 STARD4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2017-06-28 100505678 ENSG00000246859 OTTHUMG00000162858 uc021ych.1 CR749489 NR_040093 28621149 STARD4-AS1 HGNC:44117 HGNC:18065 STARD5 StAR related lipid transfer domain containing 5 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 MGC10327 START domain containing 5 StAR related lipid transfer domain containing 759 2002-01-24 2015-11-20 2023-01-20 80765 ENSG00000172345 OTTHUMG00000147342 uc002bgm.4 AF480304 NM_181900 CCDS10318 Q9NSY2 12011452 MGI:2156765 RGD:1561783 607050 HGNC:18065 "ENST00000302824.7|NM_181900.3" -HGNC:18066 STARD6 StAR related lipid transfer domain containing 6 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 START domain containing 6 StAR related lipid transfer domain containing 759 2002-01-24 2015-11-20 2023-01-20 147323 ENSG00000174448 OTTHUMG00000132702 uc060phn.1 AF480305 NM_139171 "CCDS92463|CCDS11955" P59095 12011452 MGI:2156774 RGD:1359639 607051 HGNC:18066 "ENST00000307844.4|NM_139171.2" +HGNC:18066 STARD6 StAR related lipid transfer domain containing 6 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 START domain containing 6 StAR related lipid transfer domain containing 759 2002-01-24 2015-11-20 2023-01-20 147323 ENSG00000174448 OTTHUMG00000132702 uc060phn.1 AF480305 NM_139171 "CCDS11955|CCDS92463" P59095 12011452 MGI:2156774 RGD:1359639 607051 HGNC:18066 "ENST00000307844.4|NM_139171.2" HGNC:18063 STARD7 StAR related lipid transfer domain containing 7 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 GTT1 START domain containing 7 StAR related lipid transfer domain containing 759 2002-01-24 2015-11-20 2023-01-20 56910 ENSG00000084090 OTTHUMG00000130457 uc002svm.6 AF270647 NM_001385622 CCDS2017 Q9NQZ5 MGI:2139090 RGD:1307613 616712 HGNC:18063 "ENST00000337288.10|NM_020151.4" HGNC:40827 STARD7-AS1 STARD7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 Antisense RNAs 1987 2013-10-14 2014-11-19 285033 ENSG00000204685 OTTHUMG00000155209 NR_046322 STARD7-AS1 HGNC:40827 HGNC:19161 STARD8 StAR related lipid transfer domain containing 8 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "KIAA0189|ARHGAP38" START domain containing 8 "Rho GTPase activating proteins|StAR related lipid transfer domain containing" "721|759" 2002-08-28 2015-11-20 2023-01-20 9754 ENSG00000130052 OTTHUMG00000021748 uc004dxb.4 D80011 NM_014725 "CCDS14390|CCDS48134" Q92502 8724849 MGI:2448556 RGD:1560770 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/STARD8 300689 HGNC:19161 "ENST00000374599.8|NM_001142503.3" HGNC:19162 STARD9 StAR related lipid transfer domain containing 9 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 "KIAA1300|KIF16A" START domain containing 9 "Kinesins|StAR related lipid transfer domain containing" "622|759" 2002-08-28 2015-11-20 2023-01-20 57519 ENSG00000159433 OTTHUMG00000175799 uc010udj.3 AB037721 NM_020759 CCDS53935 Q9P2P6 "10718198|16964419|22153075" MGI:3045258 RGD:1593360 614642 HGNC:19162 "ENST00000290607.12|NM_020759.3" HGNC:10666 STARD10 StAR related lipid transfer domain containing 10 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "NY-CO-28|CGI-52|PCTP2" SDCCAG28 "serologically defined colon cancer antigen 28|START domain containing 10" StAR related lipid transfer domain containing 759 1999-08-25 2003-02-07 2015-11-20 2023-01-20 10809 ENSG00000214530 OTTHUMG00000167954 uc001otb.4 AF039696 NM_006645 CCDS41688 Q9Y365 9610721 MGI:1860093 RGD:1306548 617382 HGNC:10666 "ENST00000334805.11|NM_006645.3" -HGNC:19164 STARD13 StAR related lipid transfer domain containing 13 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "GT650|DLC2|ARHGAP37" LINC00464 "START domain containing 13|long intergenic non-protein coding RNA 464" "Rho GTPase activating proteins|StAR related lipid transfer domain containing" "721|759" 2002-08-28 2015-11-20 2023-03-15 90627 ENSG00000133121 OTTHUMG00000016708 uc001uuw.4 AL049801 NM_001243466 "CCDS9349|CCDS9348|CCDS9350|CCDS91800" Q9Y3M8 8812419 MGI:2385331 RGD:1564816 609866 HGNC:19164 "ENST00000336934.10|NM_178006.4" HGNC:19164 +HGNC:19164 STARD13 StAR related lipid transfer domain containing 13 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "GT650|DLC2|ARHGAP37" LINC00464 "START domain containing 13|long intergenic non-protein coding RNA 464" "Rho GTPase activating proteins|StAR related lipid transfer domain containing" "721|759" 2002-08-28 2015-11-20 2023-03-15 90627 ENSG00000133121 OTTHUMG00000016708 uc001uuw.4 AL049801 NM_001243466 "CCDS91800|CCDS9348|CCDS9350|CCDS9349" Q9Y3M8 8812419 MGI:2385331 RGD:1564816 609866 HGNC:19164 "ENST00000336934.10|NM_178006.4" HGNC:19164 HGNC:40873 STARD13-AS STARD13 antisense RNA non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 STARD13-AS2 "STARD13 antisense RNA 2 (non-protein coding)|STARD13 antisense RNA 2" Antisense RNAs 1987 2011-05-18 2013-02-18 2013-02-18 2016-10-05 100874241 ENSG00000236581 OTTHUMG00000016710 uc058wiv.1 NR_046693 STARD13-AS HGNC:40873 HGNC:41453 STARD13-IT1 STARD13 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 STARD13 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-04 2015-02-25 2015-02-25 100874373 ENSG00000230300 OTTHUMG00000016706 uc058whh.1 STARD13-IT1 HGNC:11360 STARP1 steroidogenic acute regulatory protein pseudogene 1 pseudogene pseudogene Approved 13q21.32 13q21.32 STARD1P1 steroidogenic acute regulator pseudogene 1 1996-04-24 2007-08-16 2011-01-11 6771 ENSG00000214266 OTTHUMG00000017030 U29106 NG_002464 7761400 PGOHUM00000256723 HGNC:11360 HGNC:11362 STAT1 signal transducer and activator of transcription 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "STAT91|ISGF-3" transcription factor ISGF-3 components p91/p84 "signal transducer and activator of transcription 1, 91kD|signal transducer and activator of transcription 1, 91kDa" SH2 domain containing 741 1995-11-08 2015-11-09 2023-01-20 6772 ENSG00000115415 OTTHUMG00000132699 uc002usj.3 NM_007315 "CCDS42793|CCDS2309|CCDS92918|CCDS92917" P42224 7885841 MGI:103063 RGD:3771 "STAT1base: Mutation registry for STAT1 deficiency|http://structure.bmc.lu.se/idbase/STAT1base/|LRG_111|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_111.xml" 600555 119879 HGNC:11362 "ENST00000361099.8|NM_007315.4" HGNC:11362 -HGNC:11363 STAT2 signal transducer and activator of transcription 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 STAT113 "signal transducer and activator of transcription 2, 113kD|signal transducer and activator of transcription 2, 113kDa" SH2 domain containing 741 1995-11-08 2015-11-09 2023-01-20 6773 ENSG00000170581 OTTHUMG00000170760 uc001slc.4 BC051284 NM_005419 "CCDS91707|CCDS8917|CCDS55836" P52630 7885841 MGI:103039 RGD:1311649 LRG_1329|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1329.xml 600556 434238 HGNC:11363 "ENST00000314128.9|NM_005419.4" HGNC:11363 -HGNC:11364 STAT3 signal transducer and activator of transcription 3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 APRF signal transducer and activator of transcription 3 (acute-phase response factor) SH2 domain containing 741 1995-11-08 2016-04-04 2023-01-20 6774 ENSG00000168610 OTTHUMG00000150645 uc002hzl.2 BC014482 "NM_139276|NM_003150" "CCDS59288|CCDS92313|CCDS32657|CCDS92309|CCDS32656|CCDS92316|CCDS92311|CCDS92310|CCDS92312|CCDS92314|CCDS92315" P40763 7512451 MGI:103038 RGD:3772 "STAT3base: Mutation registry for Hyper-IgE syndrome|http://structure.bmc.lu.se/idbase/STAT3base/|LRG_112|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_112.xml" STAT3 102582 138523 objectId:2994 HGNC:11364 "ENST00000264657.10|NM_139276.3" HGNC:11364 +HGNC:11363 STAT2 signal transducer and activator of transcription 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 STAT113 "signal transducer and activator of transcription 2, 113kD|signal transducer and activator of transcription 2, 113kDa" SH2 domain containing 741 1995-11-08 2015-11-09 2023-01-20 6773 ENSG00000170581 OTTHUMG00000170760 uc001slc.4 BC051284 NM_005419 "CCDS55836|CCDS8917|CCDS91707" P52630 7885841 MGI:103039 RGD:1311649 LRG_1329|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1329.xml 600556 434238 HGNC:11363 "ENST00000314128.9|NM_005419.4" HGNC:11363 +HGNC:11364 STAT3 signal transducer and activator of transcription 3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 APRF signal transducer and activator of transcription 3 (acute-phase response factor) SH2 domain containing 741 1995-11-08 2016-04-04 2023-01-20 6774 ENSG00000168610 OTTHUMG00000150645 uc002hzl.2 BC014482 "NM_139276|NM_003150" "CCDS59288|CCDS92315|CCDS32657|CCDS32656|CCDS92316|CCDS92312|CCDS92314|CCDS92309|CCDS92311|CCDS92313|CCDS92310" P40763 7512451 MGI:103038 RGD:3772 "STAT3base: Mutation registry for Hyper-IgE syndrome|http://structure.bmc.lu.se/idbase/STAT3base/|LRG_112|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_112.xml" STAT3 102582 138523 objectId:2994 HGNC:11364 "ENST00000264657.10|NM_139276.3" HGNC:11364 HGNC:11365 STAT4 signal transducer and activator of transcription 4 protein-coding gene gene with protein product Approved 2q32.2-q32.3 02q32.2-q32.3 SH2 domain containing 741 1995-11-08 2023-01-20 6775 ENSG00000138378 OTTHUMG00000132700 uc002usn.3 NM_003151 CCDS2310 Q14765 "8007943|8700208" MGI:103062 RGD:1305747 600558 320815 HGNC:11365 "ENST00000392320.7|NM_003151.4" HGNC:55764 STAT4-AS1 STAT4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.2 02q32.2 Antisense RNAs 1987 2021-07-22 2021-07-22 2021-07-22 2021-07-22 105373805 ENSG00000231858 NR_136318 -HGNC:11366 STAT5A signal transducer and activator of transcription 5A protein-coding gene gene with protein product Approved 17q21.2 17q21.2 MGF STAT5 SH2 domain containing 741 1995-11-09 2023-01-20 6776 ENSG00000126561 OTTHUMG00000150725 uc002hzj.3 U43185 NM_003152 "CCDS11424|CCDS74066|CCDS74067|CCDS92308" P42229 "7719937|8631883" MGI:103036 RGD:3773 601511 objectId:3221 HGNC:11366 "ENST00000590949.6|NM_001288718.2" +HGNC:11366 STAT5A signal transducer and activator of transcription 5A protein-coding gene gene with protein product Approved 17q21.2 17q21.2 MGF STAT5 SH2 domain containing 741 1995-11-09 2023-01-20 6776 ENSG00000126561 OTTHUMG00000150725 uc002hzj.3 U43185 NM_003152 "CCDS74067|CCDS74066|CCDS92308|CCDS11424" P42229 "7719937|8631883" MGI:103036 RGD:3773 601511 objectId:3221 HGNC:11366 "ENST00000590949.6|NM_001288718.2" HGNC:11367 STAT5B signal transducer and activator of transcription 5B protein-coding gene gene with protein product Approved 17q21.2 17q21.2 SH2 domain containing 741 1997-01-28 2023-01-20 6777 ENSG00000173757 OTTHUMG00000150724 uc002hzh.4 BC065227 NM_012448 CCDS11423 P51692 8631883 MGI:103035 RGD:3774 "STAT5Bbase: Mutation registry for Growth hormone insensitivity with immunodeficiency|http://structure.bmc.lu.se/idbase/STAT5Bbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/STAT5B|LRG_192|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_192.xml" STAT5B 604260 119882 HGNC:11367 "ENST00000293328.8|NM_012448.4" HGNC:11367 -HGNC:11368 STAT6 signal transducer and activator of transcription 6 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "D12S1644|IL-4-STAT" signal transducer and activator of transcription 6, interleukin-4 induced SH2 domain containing 741 1995-11-09 2016-03-11 2023-01-20 6778 ENSG00000166888 OTTHUMG00000171194 uc058psk.1 "BC005823|BQ028928" NM_003153 "CCDS8931|CCDS53804" P42226 "9605853|8085155" MGI:103034 RGD:1309063 LRG_1369|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1369.xml STAT6 601512 326078 objectId:2993 HGNC:11368 "ENST00000300134.8|NM_003153.5" -HGNC:11369 STATH statherin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 STR Histatins and statherin 971 2001-06-22 2023-01-20 6779 ENSG00000126549 OTTHUMG00000129394 uc062xbr.1 NM_003154 "CCDS33998|CCDS3533" P02808 3502720 RGD:1589974 184470 HGNC:11369 "ENST00000246895.9|NM_003154.3" -HGNC:11370 STAU1 staufen double-stranded RNA binding protein 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 PPP1R150 protein phosphatase 1, regulatory subunit 150 STAU "staufen (Drosophila, RNA-binding protein)|staufen, RNA binding protein (Drosophila)|staufen, RNA binding protein, homolog 1 (Drosophila)" Protein phosphatase 1 regulatory subunits 694 1996-04-22 2005-11-04 2013-06-05 2023-01-20 6780 ENSG00000124214 OTTHUMG00000032691 uc002xud.3 NM_017453 "CCDS33481|CCDS13414|CCDS13415" O95793 "8884277|15680326" MGI:1338864 RGD:621778 601716 HGNC:11370 "ENST00000371856.7|NM_017453.4" -HGNC:11371 STAU2 staufen double-stranded RNA binding protein 2 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 39K2 "staufen (Drosophila, RNA-binding protein) homolog 2|staufen, RNA binding protein, homolog 2 (Drosophila)" 2000-01-07 2013-06-05 2023-01-20 27067 ENSG00000040341 OTTHUMG00000164499 uc003xzm.4 Y19062 NM_001164380 "CCDS55246|CCDS55245|CCDS55247|CCDS55244|CCDS6214|CCDS55248" Q9NUL3 10585778 MGI:1352508 RGD:621479 605920 HGNC:11371 "ENST00000524300.6|NM_001164380.2" +HGNC:11368 STAT6 signal transducer and activator of transcription 6 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "D12S1644|IL-4-STAT" signal transducer and activator of transcription 6, interleukin-4 induced SH2 domain containing 741 1995-11-09 2016-03-11 2023-01-20 6778 ENSG00000166888 OTTHUMG00000171194 uc058psk.1 "BC005823|BQ028928" NM_003153 "CCDS53804|CCDS8931" P42226 "9605853|8085155" MGI:103034 RGD:1309063 LRG_1369|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1369.xml STAT6 601512 326078 objectId:2993 HGNC:11368 "ENST00000300134.8|NM_003153.5" +HGNC:11369 STATH statherin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 STR "Histatins and statherin|Secretory calcium-binding phosphoprotein family" "971|2245" 2001-06-22 2023-01-20 6779 ENSG00000126549 OTTHUMG00000129394 uc062xbr.1 NM_003154 "CCDS33998|CCDS3533" P02808 3502720 RGD:1589974 184470 HGNC:11369 "ENST00000246895.9|NM_003154.3" +HGNC:11370 STAU1 staufen double-stranded RNA binding protein 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 PPP1R150 protein phosphatase 1, regulatory subunit 150 STAU "staufen (Drosophila, RNA-binding protein)|staufen, RNA binding protein (Drosophila)|staufen, RNA binding protein, homolog 1 (Drosophila)" Protein phosphatase 1 regulatory subunits 694 1996-04-22 2005-11-04 2013-06-05 2023-01-20 6780 ENSG00000124214 OTTHUMG00000032691 uc002xud.3 NM_017453 "CCDS13414|CCDS33481|CCDS13415" O95793 "8884277|15680326" MGI:1338864 RGD:621778 601716 HGNC:11370 "ENST00000371856.7|NM_017453.4" +HGNC:11371 STAU2 staufen double-stranded RNA binding protein 2 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 39K2 "staufen (Drosophila, RNA-binding protein) homolog 2|staufen, RNA binding protein, homolog 2 (Drosophila)" 2000-01-07 2013-06-05 2023-01-20 27067 ENSG00000040341 OTTHUMG00000164499 uc003xzm.4 Y19062 NM_001164380 "CCDS55248|CCDS55246|CCDS55245|CCDS55247|CCDS55244|CCDS6214" Q9NUL3 10585778 MGI:1352508 RGD:621479 605920 HGNC:11371 "ENST00000524300.6|NM_001164380.2" HGNC:44101 STAU2-AS1 STAU2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q21.11 08q21.11 STAU2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2012-10-12 100128126 ENSG00000253302 OTTHUMG00000164568 uc003xzl.4 AK056720 NR_038406 STAU2-AS1 HGNC:44101 HGNC:55011 STAU2P1 STAU2 pseudogene 1 pseudogene pseudogene Approved Xq21.31 Xq21.31 2020-05-21 2020-05-21 100130134 ENSG00000227581 NG_022618 HGNC:24854 STBD1 starch binding domain 1 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "FLJ41801|GENX-3414" genethonin 1 2007-07-17 2023-01-20 8987 ENSG00000118804 OTTHUMG00000130109 uc003hka.4 AF062534 NM_003943 CCDS3578 O95210 "9794794|8828038|27358407" MGI:1261768 RGD:1311800 607406 HGNC:24854 "ENST00000237642.7|NM_003943.5" @@ -37662,34 +37665,34 @@ HGNC:56805 STBD1P1 STBD1 pseudogene 1 pseudogene pseudogene Approved 12q13.11 12 HGNC:11373 STC1 stanniocalcin 1 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 STC 1999-01-07 2023-01-20 6781 ENSG00000159167 OTTHUMG00000097853 uc003xdw.2 NM_003155 CCDS6043 P52823 9480753 MGI:109131 RGD:621776 601185 HGNC:11373 "ENST00000290271.7|NM_003155.3" HGNC:11374 STC2 stanniocalcin 2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 STC-2 1999-01-07 2023-01-20 8614 ENSG00000113739 OTTHUMG00000130542 uc003mco.2 AB012664 NM_003714 CCDS4388 O76061 "9723890|9753616" MGI:1316731 RGD:621777 603665 HGNC:11374 "ENST00000265087.9|NM_003714.3" HGNC:11378 STEAP1 STEAP family member 1 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 PRSS24 STEAP "six transmembrane epithelial antigen of the prostate|six transmembrane epithelial antigen of the prostate 1|STEAP1 metalloreductase" "Serine proteases|STEAP family" "738|1324" 1999-12-10 2005-02-24 2016-07-27 2023-01-20 26872 ENSG00000164647 OTTHUMG00000023006 uc003ujx.3 AF186249 NM_012449 CCDS5614 Q9UHE8 MGI:1917608 RGD:1311543 604415 1.16.1.- HGNC:11378 "ENST00000297205.7|NM_012449.3" -HGNC:41907 STEAP1B STEAP family member 1B protein-coding gene gene with protein product Approved 7p15.3 07p15.3 STEAP family 1324 2011-05-19 2023-01-20 256227 ENSG00000105889 OTTHUMG00000152529 uc003svh.4 NM_001164460 "CCDS94065|CCDS55094|CCDS56469" Q6NZ63 MGI:1917608 HGNC:41907 "ENST00000678116.1|NM_001382447.1" +HGNC:41907 STEAP1B STEAP family member 1B protein-coding gene gene with protein product Approved 7p15.3 07p15.3 STEAP family 1324 2011-05-19 2023-01-20 256227 ENSG00000105889 OTTHUMG00000152529 uc003svh.4 NM_001164460 "CCDS94065|CCDS56469|CCDS55094" Q6NZ63 MGI:1917608 HGNC:41907 "ENST00000678116.1|NM_001382447.1" HGNC:56137 STEAP1B-AS1 STEAP1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p15.3 07p15.3 Antisense RNAs 1987 2022-01-12 2023-02-27 100506178 ENSG00000232759 NR_038393 32328347 -HGNC:17885 STEAP2 STEAP2 metalloreductase protein-coding gene gene with protein product Approved 7q21.13 07q21.13 "IPCA-1|STAMP1|STMP" PCANAP1 "prostate cancer associated protein 1|six transmembrane epithelial antigen of the prostate 2|STEAP family member 2, metalloreductase" STEAP family 1324 2002-09-12 2015-11-19 2023-01-20 261729 ENSG00000157214 OTTHUMG00000023341 uc010len.3 AF455138 NM_152999 "CCDS43612|CCDS59064|CCDS5615" Q8NFT2 "10613842|12095985" MGI:1921301 RGD:1307050 605094 1.16.1.- HGNC:17885 "ENST00000394621.7|NM_001244944.2" +HGNC:17885 STEAP2 STEAP2 metalloreductase protein-coding gene gene with protein product Approved 7q21.13 07q21.13 "IPCA-1|STAMP1|STMP" PCANAP1 "prostate cancer associated protein 1|six transmembrane epithelial antigen of the prostate 2|STEAP family member 2, metalloreductase" STEAP family 1324 2002-09-12 2015-11-19 2023-01-20 261729 ENSG00000157214 OTTHUMG00000023341 uc010len.3 AF455138 NM_152999 "CCDS59064|CCDS5615|CCDS43612" Q8NFT2 "10613842|12095985" MGI:1921301 RGD:1307050 605094 1.16.1.- HGNC:17885 "ENST00000394621.7|NM_001244944.2" HGNC:40820 STEAP2-AS1 STEAP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.13 07q21.13 STEAP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-30 2012-08-15 2021-07-29 100874100 ENSG00000227646 OTTHUMG00000065036 uc064fdm.1 NR_110029 STEAP2-AS1 HGNC:40820 -HGNC:24592 STEAP3 STEAP3 metalloreductase protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "TSAP6|dudlin-2|STMP3" STEAP family member 3, metalloreductase STEAP family 1324 2005-06-15 2015-11-19 2023-01-20 55240 ENSG00000115107 OTTHUMG00000131402 uc002tlp.4 AY029585 NM_018234 "CCDS82504|CCDS2125|CCDS42738" Q658P3 12606722 MGI:1915678 RGD:708552 609671 358321 1.16.1.- HGNC:24592 "ENST00000393110.7|NM_182915.3" HGNC:24592 +HGNC:24592 STEAP3 STEAP3 metalloreductase protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "TSAP6|dudlin-2|STMP3" STEAP family member 3, metalloreductase STEAP family 1324 2005-06-15 2015-11-19 2023-01-20 55240 ENSG00000115107 OTTHUMG00000131402 uc002tlp.4 AY029585 NM_018234 "CCDS2125|CCDS82504|CCDS42738" Q658P3 12606722 MGI:1915678 RGD:708552 609671 358321 1.16.1.- HGNC:24592 "ENST00000393110.7|NM_182915.3" HGNC:24592 HGNC:41053 STEAP3-AS1 STEAP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.2 02q14.2 STEAP3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-30 2012-08-15 2014-11-19 100874111 ENSG00000229867 OTTHUMG00000153297 uc061nhy.1 NR_046721 STEAP3-AS1 HGNC:41053 HGNC:21923 STEAP4 STEAP4 metalloreductase protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "FLJ23153|TIARP|STAMP2|SchLAH" seven chromosome locus associated with HCC TNFAIP9 "tumor necrosis factor, alpha-induced protein 9|STEAP family member 4" STEAP family 1324 2004-10-28 2005-06-15 2015-11-19 2023-01-20 79689 ENSG00000127954 OTTHUMG00000153853 uc003ujs.4 AK026806 NM_024636 "CCDS56494|CCDS43611" Q687X5 "11443137|15897894" MGI:1923560 RGD:1560331 611098 1.16.1.- HGNC:21923 "ENST00000380079.9|NM_024636.4" -HGNC:26239 STEEP1 STING1 ER exit protein 1 protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ22965 CXorf56 chromosome X open reading frame 56 "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2006-02-06 2020-12-03 2020-12-03 2023-03-15 63932 ENSG00000018610 OTTHUMG00000022276 uc011mtu.3 AK026618 NM_022101 "CCDS55485|CCDS94660|CCDS55484" Q9H5V9 "29374277|31198491|32690950" MGI:1924894 RGD:1564541 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf56 301012 HGNC:26239 "ENST00000644802.2|NM_022101.4" HGNC:26239 +HGNC:26239 STEEP1 STING1 ER exit protein 1 protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ22965 CXorf56 chromosome X open reading frame 56 "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2006-02-06 2020-12-03 2020-12-03 2023-03-15 63932 ENSG00000018610 OTTHUMG00000022276 uc011mtu.3 AK026618 NM_022101 "CCDS55485|CCDS55484|CCDS94660" Q9H5V9 "29374277|31198491|32690950" MGI:1924894 RGD:1564541 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf56 301012 HGNC:26239 "ENST00000644802.2|NM_022101.4" HGNC:26239 HGNC:18839 STH saitohin protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MAPTIT microtubule-associated protein tau (MAPT) intronic transcript 2008-01-22 2023-01-20 246744 ENSG00000256762 OTTHUMG00000168633 uc002ijy.2 AA325304 NM_001007532 CCDS54136 Q8IWL8 "12032355|16186110" 607067 HGNC:18839 "ENST00000537309.1|NM_001007532.3" -HGNC:10879 STIL STIL centriolar assembly protein protein-coding gene gene with protein product Approved 1p33 01p33 MCPH7 SIL "TAL1 (SCL) interrupting locus|SCL/TAL1 interrupting locus" 1997-11-05 2005-11-29 2019-01-21 2023-01-20 6491 ENSG00000123473 OTTHUMG00000007851 uc001cre.1 M74558 NM_003035 "CCDS72785|CCDS41329|CCDS548|CCDS90946|CCDS72786" Q15468 "1922059|2209547" MGI:107477 RGD:1304972 STIL 181590 171649 HGNC:10879 "ENST00000371877.8|NM_001048166.1" HGNC:10879 -HGNC:11386 STIM1 stromal interaction molecule 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "GOK|D11S4896E" "Sterile alpha motif domain containing|MicroRNA protein coding host genes" "760|1691" 1997-02-05 2023-01-20 6786 ENSG00000167323 OTTHUMG00000133360 uc001lyv.3 "BC021300|U52426" NM_003156 "CCDS91418|CCDS91420|CCDS7749|CCDS91419|CCDS60706|CCDS91417|CCDS73247|CCDS91421|CCDS91416" Q13586 "8921403|11463338|11983428" MGI:107476 RGD:1306831 LRG_164|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_164.xml 605921 201300 HGNC:11386 "ENST00000526596.2|NM_001382567.1" HGNC:11386 +HGNC:10879 STIL STIL centriolar assembly protein protein-coding gene gene with protein product Approved 1p33 01p33 MCPH7 SIL "TAL1 (SCL) interrupting locus|SCL/TAL1 interrupting locus" 1997-11-05 2005-11-29 2019-01-21 2023-01-20 6491 ENSG00000123473 OTTHUMG00000007851 uc001cre.1 M74558 NM_003035 "CCDS72786|CCDS90946|CCDS72785|CCDS548|CCDS41329" Q15468 "1922059|2209547" MGI:107477 RGD:1304972 STIL 181590 171649 HGNC:10879 "ENST00000371877.8|NM_001048166.1" HGNC:10879 +HGNC:11386 STIM1 stromal interaction molecule 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "GOK|D11S4896E" "Sterile alpha motif domain containing|MicroRNA protein coding host genes" "760|1691" 1997-02-05 2023-01-20 6786 ENSG00000167323 OTTHUMG00000133360 uc001lyv.3 "BC021300|U52426" NM_003156 "CCDS91421|CCDS73247|CCDS60706|CCDS91420|CCDS7749|CCDS91417|CCDS91419|CCDS91418|CCDS91416" Q13586 "8921403|11463338|11983428" MGI:107476 RGD:1306831 LRG_164|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_164.xml 605921 201300 HGNC:11386 "ENST00000526596.2|NM_001382567.1" HGNC:11386 HGNC:40568 STIM1-AS1 STIM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2020-03-27 2020-03-27 105376527 ENSG00000228661 OTTHUMG00000012285 NR_183662 -HGNC:19205 STIM2 stromal interaction molecule 2 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 Sterile alpha motif domain containing 760 2002-09-24 2023-01-20 57620 ENSG00000109689 OTTHUMG00000097805 uc003gsg.6 AB040915 NM_020860 "CCDS54752|CCDS54751|CCDS3440" Q9P246 11463338 MGI:2151156 RGD:1304641 610841 HGNC:19205 "ENST00000467087.7|NM_020860.4" +HGNC:19205 STIM2 stromal interaction molecule 2 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 Sterile alpha motif domain containing 760 2002-09-24 2023-01-20 57620 ENSG00000109689 OTTHUMG00000097805 uc003gsg.6 AB040915 NM_020860 "CCDS3440|CCDS54751|CCDS54752" Q9P246 11463338 MGI:2151156 RGD:1304641 610841 HGNC:19205 "ENST00000467087.7|NM_020860.4" HGNC:40879 STIM2-AS1 STIM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p15.2 04p15.2 Antisense RNAs 1987 2018-11-04 2018-11-04 105374546 ENSG00000240005 OTTHUMG00000159680 NR_134673 HGNC:40879 HGNC:30526 STIMATE STIM activating enhancer protein-coding gene gene with protein product Approved 3p21.1 03p21.1 MGC52022 TMEM110 transmembrane protein 110 MicroRNA protein coding host genes 1691 2005-12-22 2017-10-16 2017-10-16 2023-01-20 375346 ENSG00000213533 OTTHUMG00000150346 uc062kra.1 BC047015 NM_198563 CCDS2866 Q86TL2 26322679 MGI:1921500 617189 HGNC:30526 "ENST00000355083.11|NM_198563.5" HGNC:38834 STIMATE-MUSTN1 STIMATE-MUSTN1 readthrough other readthrough Approved 3p21.1 03p21.1 TMEM110-MUSTN1 TMEM110-MUSTN1 readthrough 2011-02-21 2019-01-04 2019-01-04 2023-03-15 100526772 ENSG00000248592 OTTHUMG00000160756 uc003dgc.5 NM_001198974 MGI:1921500 RGD:735152 HGNC:38834 -HGNC:27962 STING1 stimulator of interferon response cGAMP interactor 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "FLJ38577|NET23|ERIS|MPYS|STING|MITA" "stimulator of interferon genes|endoplasmic reticulum IFN stimulator" TMEM173 transmembrane protein 173 2006-08-24 2019-08-29 2019-08-29 2023-01-20 340061 ENSG00000184584 OTTHUMG00000129239 uc003lep.4 NM_198282 "CCDS93792|CCDS4215|CCDS93791" Q86WV6 21947006 MGI:1919762 RGD:1562552 LRG_1308|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1308.xml 612374 438066 objectId:2902 HGNC:27962 "ENST00000330794.9|NM_198282.4" HGNC:27962 -HGNC:11387 STIP1 stress induced phosphoprotein 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HOP|STI1" Hsp70/Hsp90-organizing protein stress-induced-phosphoprotein 1 Tetratricopeptide repeat domain containing 769 1999-08-25 2015-11-20 2023-01-20 10963 ENSG00000168439 OTTHUMG00000167789 uc001nyk.2 BC039299 NM_006819 "CCDS8058|CCDS60827|CCDS60828" P31948 1569099 MGI:109130 RGD:621599 605063 HGNC:11387 "ENST00000305218.9|NM_006819.3" +HGNC:27962 STING1 stimulator of interferon response cGAMP interactor 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "FLJ38577|NET23|ERIS|MPYS|STING|MITA" "stimulator of interferon genes|endoplasmic reticulum IFN stimulator" TMEM173 transmembrane protein 173 2006-08-24 2019-08-29 2019-08-29 2023-01-20 340061 ENSG00000184584 OTTHUMG00000129239 uc003lep.4 NM_198282 "CCDS93791|CCDS93792|CCDS4215" Q86WV6 21947006 MGI:1919762 RGD:1562552 LRG_1308|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1308.xml 612374 438066 objectId:2902 HGNC:27962 "ENST00000330794.9|NM_198282.4" HGNC:27962 +HGNC:11387 STIP1 stress induced phosphoprotein 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HOP|STI1" Hsp70/Hsp90-organizing protein stress-induced-phosphoprotein 1 Tetratricopeptide repeat domain containing 769 1999-08-25 2015-11-20 2023-01-20 10963 ENSG00000168439 OTTHUMG00000167789 uc001nyk.2 BC039299 NM_006819 "CCDS60827|CCDS60828|CCDS8058" P31948 1569099 MGI:109130 RGD:621599 605063 HGNC:11387 "ENST00000305218.9|NM_006819.3" HGNC:49552 STIP1P1 stress induced phosphoprotein 1 pseudogene 1 pseudogene pseudogene Approved 2q22.2 02q22.2 2014-01-13 2015-11-20 2015-11-20 100420434 NG_023254 PGOHUM00000259808 HGNC:49552 HGNC:49553 STIP1P2 stress induced phosphoprotein 1 pseudogene 2 pseudogene pseudogene Approved 2q36.3 02q36.3 2014-01-13 2015-11-20 2015-11-20 100420436 NG_033153 PGOHUM00000259812 HGNC:49553 HGNC:49554 STIP1P3 stress induced phosphoprotein 1 pseudogene 3 pseudogene pseudogene Approved Xq21.2 Xq21.2 2014-01-13 2015-11-20 2015-11-20 441505 ENSG00000225536 OTTHUMG00000021939 NG_022615 PGOHUM00000241423 HGNC:49554 -HGNC:11406 STK3 serine/threonine kinase 3 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "MST2|KRS1" hippo (Drosophila) homolog serine/threonine kinase 3 (Ste20, yeast homolog) 1997-10-09 2010-06-25 2023-01-20 6788 ENSG00000104375 OTTHUMG00000164651 uc003yip.5 BC010640 NM_006281 "CCDS47900|CCDS75774|CCDS59108" Q13188 8816758 MGI:1928487 RGD:68412 605030 objectId:2219 HGNC:11406 "ENST00000419617.7|NM_006281.4" +HGNC:11406 STK3 serine/threonine kinase 3 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "MST2|KRS1" hippo (Drosophila) homolog serine/threonine kinase 3 (Ste20, yeast homolog) 1997-10-09 2010-06-25 2023-01-20 6788 ENSG00000104375 OTTHUMG00000164651 uc003yip.5 BC010640 NM_006281 "CCDS47900|CCDS59108|CCDS75774" Q13188 8816758 MGI:1928487 RGD:68412 605030 objectId:2219 HGNC:11406 "ENST00000419617.7|NM_006281.4" HGNC:11408 STK4 serine/threonine kinase 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "MST1|KRS2|YSK3" "mammalian sterile 20-like 1|yeast Ste20-like|kinase responsive to stress 2|hippo (Drosophila) homolog" 1997-10-09 2023-01-20 6789 ENSG00000101109 OTTHUMG00000033059 uc002xnb.4 NM_006282 "CCDS13341|CCDS86957" Q13043 "8816758|9545236|11517310" MGI:1929004 RGD:1312035 LRG_535|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_535.xml 604965 317798 objectId:2225 2.7.11.1 HGNC:11408 "ENST00000372806.8|NM_006282.5" HGNC:11408 HGNC:43811 STK4-DT STK4 divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 STK4-AS1 "STK4 antisense RNA 1 (non-protein coding)|STK4 antisense RNA 1|STK4 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-03-09 2021-07-30 2021-07-30 2021-07-30 100505826 ENSG00000227477 OTTHUMG00000032555 uc002xna.3 NR_038341 STK4-AS1 HGNC:43811 HGNC:11388 STK10 serine/threonine kinase 10 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "LOK|PRO2729" lymphocyte-oriented kinase 1997-12-05 2023-01-20 6793 ENSG00000072786 OTTHUMG00000163265 uc003mbo.2 AB015718 NM_005990 CCDS34290 O94804 10199912 MGI:1099439 RGD:3779 603919 objectId:2211 HGNC:11388 "ENST00000176763.10|NM_005990.4" HGNC:11389 STK11 serine/threonine kinase 11 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PJS|LKB1" polarization-related protein LKB1 serine/threonine kinase 11 (Peutz-Jeghers syndrome) 1998-01-21 2005-12-13 2023-01-20 6794 ENSG00000118046 OTTHUMG00000180118 uc002lrl.2 U63333 NM_000455 CCDS45896 Q15831 9425897 MGI:1341870 RGD:1308653 LRG_319|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_319.xml STK11 602216 119884 objectId:2212 HGNC:11389 "ENST00000326873.12|NM_000455.5" HGNC:11389 HGNC:19184 STK11IP serine/threonine kinase 11 interacting protein protein-coding gene gene with protein product Approved 2q35 02q35 "LIP1|KIAA1898|LKB1IP|STK11IP1" LKB1 interacting protein 2002-09-12 2023-01-20 114790 ENSG00000144589 OTTHUMG00000059239 uc002vml.3 AF450267 NM_052902 CCDS46521 Q8N1F8 11741830 MGI:1918978 RGD:1305046 607172 HGNC:19184 "ENST00000456909.6|NM_052902.4" -HGNC:11394 STK16 serine/threonine kinase 16 protein-coding gene gene with protein product Approved 2q35 02q35 "PKL12|MPSK" 1999-05-25 2023-01-20 8576 ENSG00000115661 OTTHUMG00000154520 uc002vko.3 AF060798 NM_001008910 "CCDS86921|CCDS82573|CCDS42822" O75716 9712705 MGI:1313271 RGD:629474 604719 objectId:2213 HGNC:11394 "ENST00000396738.7|NM_001330213.2" +HGNC:11394 STK16 serine/threonine kinase 16 protein-coding gene gene with protein product Approved 2q35 02q35 "PKL12|MPSK" 1999-05-25 2023-01-20 8576 ENSG00000115661 OTTHUMG00000154520 uc002vko.3 AF060798 NM_001008910 "CCDS82573|CCDS42822|CCDS86921" O75716 9712705 MGI:1313271 RGD:629474 604719 objectId:2213 HGNC:11394 "ENST00000396738.7|NM_001330213.2" HGNC:19283 STK16P1 serine/threonine kinase 16 pseudogene 1 pseudogene pseudogene Approved 14q21.3 14q21.3 STK16P serine/threonine kinase 16 pseudogene 2003-01-13 2010-04-16 2010-04-16 2020-04-07 326107 ENSG00000259155 OTTHUMG00000170875 NG_002530 PGOHUM00000248162 HGNC:19283 HGNC:11395 STK17A serine/threonine kinase 17a protein-coding gene gene with protein product Approved 7p13 07p13 DRAK1 death-associated protein kinase-related 1 serine/threonine kinase 17a (apoptosis-inducing) Death associated protein kinases 1021 1999-05-21 2007-02-12 2023-01-20 9263 ENSG00000164543 OTTHUMG00000022825 uc003tih.4 AB011420 NM_004760 CCDS5470 Q9UEE5 9786912 604726 objectId:2214 HGNC:11395 "ENST00000319357.6|NM_004760.3" HGNC:11396 STK17B serine/threonine kinase 17b protein-coding gene gene with protein product Approved 2q32.3 02q32.3 DRAK2 death-associated protein kinase-related 2 serine/threonine kinase 17b (apoptosis-inducing) Death associated protein kinases 1021 1999-05-21 2007-02-12 2023-01-20 9262 ENSG00000081320 OTTHUMG00000132735 uc010fsh.4 AB011421 NM_004226 CCDS2315 O94768 9786912 MGI:2138162 RGD:620457 604727 objectId:2215 HGNC:11396 "ENST00000263955.9|NM_004226.4" @@ -37700,85 +37703,85 @@ HGNC:39935 STK24-AS1 STK24 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:50360 STK24P1 serine/threonine kinase 24 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 2014-04-23 2014-04-23 100421784 ENSG00000230079 OTTHUMG00000022506 NG_026770 PGOHUM00000241570 HGNC:50360 HGNC:11404 STK25 serine/threonine kinase 25 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "SOK1|YSK1" serine/threonine kinase 25 (Ste20, yeast homolog) STRIPAK complex 1371 2000-01-18 2010-06-25 2023-01-20 10494 ENSG00000115694 OTTHUMG00000133408 uc002wbn.5 D63780 NM_006374 "CCDS2549|CCDS63200|CCDS63199" O00506 "8887545|9160885|15037601" MGI:1891699 RGD:727809 602255 objectId:2218 HGNC:11404 "ENST00000316586.9|NM_001271977.2" HGNC:50361 STK25P1 serine/threonine kinase 25 pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 2014-04-23 2014-04-23 100533662 ENSG00000267570 OTTHUMG00000181907 NG_028709 PGOHUM00000235004 HGNC:50361 -HGNC:18174 STK26 serine/threonine kinase 26 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "MST4|MASK" STE20-like kinase 4 STRIPAK complex 1371 2014-09-15 2016-12-13 2023-01-20 51765 ENSG00000134602 OTTHUMG00000022420 AB040057 NM_016542 "CCDS48168|CCDS43995|CCDS14631" Q9P289 11306563 MGI:1917665 RGD:1563568 300547 objectId:2287 HGNC:18174 "ENST00000394334.7|NM_016542.4" +HGNC:18174 STK26 serine/threonine kinase 26 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "MST4|MASK" STE20-like kinase 4 STRIPAK complex 1371 2014-09-15 2016-12-13 2023-01-20 51765 ENSG00000134602 OTTHUMG00000022420 AB040057 NM_016542 "CCDS43995|CCDS48168|CCDS14631" Q9P289 11306563 MGI:1917665 RGD:1563568 300547 objectId:2287 HGNC:18174 "ENST00000394334.7|NM_016542.4" HGNC:11407 STK31 serine/threonine kinase 31 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "TDRD8|SgK396" Tudor domain containing 780 2000-06-16 2023-01-20 56164 ENSG00000196335 OTTHUMG00000023053 uc003sws.6 AF285599 NM_031414 "CCDS59049|CCDS5386|CCDS43556" Q9BXU1 11279525 MGI:1924735 RGD:1564384 605790 objectId:2220 HGNC:11407 "ENST00000355870.8|NM_031414.5" -HGNC:28317 STK32A serine/threonine kinase 32A protein-coding gene gene with protein product Approved 5q32 05q32 "MGC22688|YANK1" AGC family kinases 1625 2004-04-20 2023-01-20 202374 ENSG00000169302 OTTHUMG00000163411 uc010jgn.2 NM_145001 "CCDS47299|CCDS75351|CCDS54931" Q8WU08 32571328 MGI:2442403 RGD:1308338 objectId:1537 HGNC:28317 "ENST00000397936.8|NM_001112724.2" +HGNC:28317 STK32A serine/threonine kinase 32A protein-coding gene gene with protein product Approved 5q32 05q32 "MGC22688|YANK1" AGC family kinases 1625 2004-04-20 2023-01-20 202374 ENSG00000169302 OTTHUMG00000163411 uc010jgn.2 NM_145001 "CCDS75351|CCDS54931|CCDS47299" Q8WU08 32571328 MGI:2442403 RGD:1308338 objectId:1537 HGNC:28317 "ENST00000397936.8|NM_001112724.2" HGNC:53468 STK32A-AS1 STK32A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q32 05q32 CTC-255N20 Antisense RNAs 1987 2017-04-27 2017-04-27 105378217 ENSG00000250343 OTTHUMG00000163410 NR_147190 28415557 HGNC:53468 -HGNC:14217 STK32B serine/threonine kinase 32B protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "STKG6|YANK2|STK32|HSA250839" AGC family kinases 1625 2004-04-20 2023-01-20 55351 ENSG00000152953 OTTHUMG00000090423 uc003gih.2 AJ250839 NM_018401 "CCDS77895|CCDS3380" Q9NY57 10700184 MGI:1927552 RGD:1306173 objectId:1538 HGNC:14217 "ENST00000282908.10|NM_018401.3" -HGNC:21332 STK32C serine/threonine kinase 32C protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "PKE|MGC23665|YANK3" AGC family kinases 1625 2004-04-20 2023-01-20 282974 ENSG00000165752 OTTHUMG00000019285 uc001lle.2 AK057849 NM_173575 "CCDS7666|CCDS81525|CCDS81527|CCDS81526" Q86UX6 MGI:2385336 RGD:1305864 objectId:1539 HGNC:21332 "ENST00000298630.8|NM_173575.4" -HGNC:14568 STK33 serine/threonine kinase 33 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 2001-02-09 2023-01-20 65975 ENSG00000130413 OTTHUMG00000140275 uc001mgk.3 AJ303380 NM_030906 "CCDS73254|CCDS7789|CCDS73253" Q9BYT3 11738831 MGI:2152419 RGD:1590972 607670 objectId:2221 HGNC:14568 "ENST00000687296.1|NM_001352389.2" +HGNC:14217 STK32B serine/threonine kinase 32B protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "STKG6|YANK2|STK32|HSA250839" AGC family kinases 1625 2004-04-20 2023-01-20 55351 ENSG00000152953 OTTHUMG00000090423 uc003gih.2 AJ250839 NM_018401 "CCDS3380|CCDS77895" Q9NY57 10700184 MGI:1927552 RGD:1306173 objectId:1538 HGNC:14217 "ENST00000282908.10|NM_018401.3" +HGNC:21332 STK32C serine/threonine kinase 32C protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "PKE|MGC23665|YANK3" AGC family kinases 1625 2004-04-20 2023-01-20 282974 ENSG00000165752 OTTHUMG00000019285 uc001lle.2 AK057849 NM_173575 "CCDS7666|CCDS81526|CCDS81525|CCDS81527" Q86UX6 MGI:2385336 RGD:1305864 objectId:1539 HGNC:21332 "ENST00000298630.8|NM_173575.4" +HGNC:14568 STK33 serine/threonine kinase 33 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 2001-02-09 2023-01-20 65975 ENSG00000130413 OTTHUMG00000140275 uc001mgk.3 AJ303380 NM_030906 "CCDS7789|CCDS73253|CCDS73254" Q9BYT3 11738831 MGI:2152419 RGD:1590972 607670 objectId:2221 HGNC:14568 "ENST00000687296.1|NM_001352389.2" HGNC:26871 STK33P1 serine/threonine kinase 33 pseudogene 1 pseudogene pseudogene Approved 9q21.33 09q21.33 STK33ps STK33P serine/threonine kinase 33 pseudogene 2005-05-06 2010-03-10 2010-03-10 2014-11-19 553118 ENSG00000227412 OTTHUMG00000020122 AL451132 NG_009480 PGOHUM00000236668 HGNC:26871 HGNC:16254 STK35 serine/threonine kinase 35 protein-coding gene gene with protein product Approved 20p13 20p13 "bA550O8.2|CLIK1" CLP-36 interacting kinase 2001-07-17 2023-01-20 140901 ENSG00000125834 OTTHUMG00000031688 uc002wfw.5 AL359916 NM_080836 CCDS13024 Q8TDR2 11973348 MGI:1914583 RGD:1310247 609370 objectId:2222 2.7.11.1 HGNC:16254 "ENST00000381482.8|NM_080836.4" -HGNC:17209 STK36 serine/threonine kinase 36 protein-coding gene gene with protein product Approved 2q35 02q35 "KIAA1278|FU" fused homolog (Drosophila) serine/threonine kinase 36 (fused homolog, Drosophila) Armadillo like helical domain containing 1492 2001-11-22 2010-06-25 2023-01-20 27148 ENSG00000163482 OTTHUMG00000133079 uc002viu.4 AB033104 NM_001243313 "CCDS2421|CCDS58750" Q9NRP7 10806483 MGI:1920831 RGD:1307318 607652 objectId:2223 HGNC:17209 "ENST00000295709.8|NM_015690.5" HGNC:17209 +HGNC:17209 STK36 serine/threonine kinase 36 protein-coding gene gene with protein product Approved 2q35 02q35 "KIAA1278|FU" fused homolog (Drosophila) serine/threonine kinase 36 (fused homolog, Drosophila) Armadillo like helical domain containing 1492 2001-11-22 2010-06-25 2023-01-20 27148 ENSG00000163482 OTTHUMG00000133079 uc002viu.4 AB033104 NM_001243313 "CCDS58750|CCDS2421" Q9NRP7 10806483 MGI:1920831 RGD:1307318 607652 objectId:2223 HGNC:17209 "ENST00000295709.8|NM_015690.5" HGNC:17209 HGNC:17847 STK38 serine/threonine kinase 38 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "NDR|NDR1" nuclear Dbf2-related 1 AGC family kinases 1625 2001-12-19 2023-01-20 11329 ENSG00000112079 OTTHUMG00000014598 uc003omh.3 NM_007271 CCDS4822 Q15208 7761441 MGI:2442572 RGD:1309455 606964 objectId:1517 HGNC:17847 "ENST00000229812.8|NM_007271.4" HGNC:17848 STK38L serine/threonine kinase 38 like protein-coding gene gene with protein product Approved 12p11.23 12p11.23 "KIAA0965|NDR2" nuclear Dbf2-related 2 AGC family kinases 1625 2001-12-21 2023-01-20 23012 ENSG00000211455 OTTHUMG00000169284 uc001rhr.4 AB023182 NM_015000 CCDS31761 Q9Y2H1 16488889 MGI:1922250 RGD:1564793 615836 objectId:1518 HGNC:17848 "ENST00000389032.8|NM_015000.4" HGNC:17717 STK39 serine/threonine kinase 39 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "DCHT|SPAK" STE20/SPS1 homolog (yeast) serine threonine kinase 39 2002-01-14 2015-11-19 2023-01-20 27347 ENSG00000198648 OTTHUMG00000133745 uc002uea.4 AF099989 NM_013233 "CCDS92893|CCDS42770" Q9UEW8 10980603 MGI:1858416 RGD:621643 607648 objectId:2224 HGNC:17717 "ENST00000355999.5|NM_013233.3" -HGNC:21373 STK40 serine/threonine kinase 40 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "MGC4796|SgK495" 2005-05-03 2023-01-20 83931 ENSG00000196182 OTTHUMG00000008238 uc001cam.3 BC008344 NM_032017 "CCDS60089|CCDS407" Q8N2I9 MGI:1921428 RGD:727884 609437 objectId:2226 HGNC:21373 "ENST00000373132.4|NM_001282547.2" +HGNC:21373 STK40 serine/threonine kinase 40 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "MGC4796|SgK495" 2005-05-03 2023-01-20 83931 ENSG00000196182 OTTHUMG00000008238 uc001cam.3 BC008344 NM_032017 "CCDS407|CCDS60089" Q8N2I9 MGI:1921428 RGD:727884 609437 objectId:2226 HGNC:21373 "ENST00000373132.4|NM_001282547.2" HGNC:28669 STKLD1 serine/threonine kinase like domain containing 1 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "MGC43306|SGK071" C9orf96 chromosome 9 open reading frame 96 2004-03-11 2014-05-29 2016-06-15 2023-01-20 169436 ENSG00000198870 OTTHUMG00000020862 BC036504 NM_153710 CCDS35169 Q8NE28 30945277 MGI:2685557 RGD:1307355 618530 objectId:1951 HGNC:28669 "ENST00000371957.4|NM_153710.5" HGNC:28669 HGNC:6510 STMN1 stathmin 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SMN|OP18|PR22|PP19|PP17|Lag|FLJ32206" oncoprotein 18 "LAP18|C1orf215" "chromosome 1 open reading frame 215|stathmin 1/oncoprotein 18" "Stathmins|MicroRNA protein coding host genes" "1138|1691" 1990-12-17 2001-07-13 2009-04-28 2023-01-20 3925 ENSG00000117632 OTTHUMG00000007389 uc001blc.4 J04991 NM_005563 "CCDS44090|CCDS269" P16949 2917975 MGI:96739 RGD:2992 151442 HGNC:6510 "ENST00000455785.7|NM_005563.4" HGNC:44062 STMN1P1 stathmin 1 pseudogene 1 pseudogene pseudogene Approved 12p11.21 12p11.21 2012-05-30 2015-01-30 100506685 ENSG00000276058 OTTHUMG00000186659 NG_030122 PGOHUM00000291284 HGNC:44062 HGNC:44063 STMN1P2 stathmin 1 pseudogene 2 pseudogene pseudogene Approved 4q28.3 04q28.3 2012-05-30 2014-11-19 100289663 ENSG00000251440 OTTHUMG00000161277 NG_030216 PGOHUM00000245706 HGNC:44063 -HGNC:10577 STMN2 stathmin 2 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 SCG10 SCGN10 stathmin-like 2 Stathmins 1138 2000-03-29 2001-07-13 2014-04-01 2023-01-20 11075 ENSG00000104435 OTTHUMG00000164610 uc003ybj.3 NM_007029 "CCDS56542|CCDS43748" Q93045 "8622778|12140291" MGI:98241 RGD:68947 600621 HGNC:10577 "ENST00000220876.12|NM_007029.4" -HGNC:15926 STMN3 stathmin 3 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 SCLIP stathmin-like 3 Stathmins 1138 2001-08-01 2015-11-16 2023-01-20 50861 ENSG00000197457 OTTHUMG00000032985 uc002yfr.3 AF069709 NM_015894 "CCDS63330|CCDS13529" Q9NZ72 "9603203|10655513" MGI:1277137 RGD:3628 608362 HGNC:15926 "ENST00000370053.3|NM_015894.4" -HGNC:16078 STMN4 stathmin 4 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 RB3 stathmin-like 4 Stathmins 1138 2001-07-16 2015-11-16 2023-01-20 81551 ENSG00000015592 OTTHUMG00000099461 uc003xfk.5 NM_030795 "CCDS6055|CCDS64852|CCDS64854|CCDS64851" Q9H169 11230166 MGI:1931224 RGD:69349 HGNC:16078 "ENST00000350889.9|NM_030795.4" +HGNC:10577 STMN2 stathmin 2 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 SCG10 SCGN10 stathmin-like 2 Stathmins 1138 2000-03-29 2001-07-13 2014-04-01 2023-01-20 11075 ENSG00000104435 OTTHUMG00000164610 uc003ybj.3 NM_007029 "CCDS43748|CCDS56542" Q93045 "8622778|12140291" MGI:98241 RGD:68947 600621 HGNC:10577 "ENST00000220876.12|NM_007029.4" +HGNC:15926 STMN3 stathmin 3 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 SCLIP stathmin-like 3 Stathmins 1138 2001-08-01 2015-11-16 2023-01-20 50861 ENSG00000197457 OTTHUMG00000032985 uc002yfr.3 AF069709 NM_015894 "CCDS13529|CCDS63330" Q9NZ72 "9603203|10655513" MGI:1277137 RGD:3628 608362 HGNC:15926 "ENST00000370053.3|NM_015894.4" +HGNC:16078 STMN4 stathmin 4 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 RB3 stathmin-like 4 Stathmins 1138 2001-07-16 2015-11-16 2023-01-20 81551 ENSG00000015592 OTTHUMG00000099461 uc003xfk.5 NM_030795 "CCDS64851|CCDS6055|CCDS64854|CCDS64852" Q9H169 11230166 MGI:1931224 RGD:69349 HGNC:16078 "ENST00000350889.9|NM_030795.4" HGNC:44668 STMND1 stathmin domain containing 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 FLJ23152 2012-12-11 2023-01-20 401236 ENSG00000230873 OTTHUMG00000014304 uc021ymc.1 AK026805 NM_001190766 CCDS58997 H3BQB6 MGI:2686420 RGD:1564013 HGNC:44668 "ENST00000536551.6|NM_001190766.2" HGNC:41909 STMP1 short transmembrane mitochondrial protein 1 protein-coding gene gene with protein product Approved 7q33 07q33 "PL-5283|Mm47" C7orf73 chromosome 7 open reading frame 73 2011-08-04 2017-07-28 2017-07-28 2023-01-20 647087 ENSG00000243317 OTTHUMG00000155495 uc003vsy.4 NM_001130929 CCDS55168 E0CX11 "23073385|17720804" MGI:1914955 RGD:1591053 618755 HGNC:41909 "ENST00000507606.3|NM_001130929.2" HGNC:26200 STN1 STN1 subunit of CST complex protein-coding gene gene with protein product Approved 10q24.33 10q24.33 "FLJ22559|bA541N10.2" OBFC1 "oligonucleotide/oligosaccharide binding fold containing 1|STN1, CST complex subunit" CST complex 1343 2004-03-16 2016-10-04 2019-01-25 2023-01-20 79991 ENSG00000107960 OTTHUMG00000018996 uc001kxm.4 BC017400 NM_024928 CCDS7552 Q9H668 19648609 MGI:1915581 RGD:1305637 613128 353238 HGNC:26200 "ENST00000224950.8|NM_024928.5" HGNC:26200 -HGNC:3383 STOM stomatin protein-coding gene gene with protein product Approved 9q33.2 09q33.2 BND7 "EPB7|EPB72" erythrocyte membrane protein band 7.2 (stomatin) Stomatin family 1734 1992-09-14 2002-11-15 2002-11-11 2023-01-20 2040 ENSG00000148175 OTTHUMG00000020590 uc004blh.5 NM_004099 "CCDS6831|CCDS75892|CCDS6830" P27105 1883838 MGI:95403 RGD:1305109 133090 471166 HGNC:3383 "ENST00000286713.7|NM_004099.6" -HGNC:14560 STOML1 stomatin like 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "hUNC-24|SLP-1|STORP|FLJ36370" "stomatin-like 1|stomatin (EBP72)-like 1|EPB72-like 1" stomatin (EPB72)-like 1 Stomatin family 1734 2001-02-27 2015-12-01 2023-01-20 9399 ENSG00000067221 OTTHUMG00000137608 uc002awe.5 Y16522 NM_004809 "CCDS58384|CCDS58385|CCDS58383|CCDS58382|CCDS58381|CCDS10254" Q9UBI4 9931417 MGI:1916356 RGD:1559463 608326 HGNC:14560 "ENST00000541638.6|NM_004809.5" -HGNC:14559 STOML2 stomatin like 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "SLP-2|HSPC108" EPB72-like 2 stomatin (EPB72)-like 2 Stomatin family 1734 2001-02-05 2015-12-01 2023-01-20 30968 ENSG00000165283 OTTHUMG00000019851 uc003zwi.5 AF190167 NM_013442 "CCDS69588|CCDS6577|CCDS75830" Q9UJZ1 "10713127|17121834" MGI:1913842 RGD:1308285 608292 HGNC:14559 "ENST00000356493.10|NM_013442.3" +HGNC:3383 STOM stomatin protein-coding gene gene with protein product Approved 9q33.2 09q33.2 BND7 "EPB7|EPB72" erythrocyte membrane protein band 7.2 (stomatin) Stomatin family 1734 1992-09-14 2002-11-15 2002-11-11 2023-01-20 2040 ENSG00000148175 OTTHUMG00000020590 uc004blh.5 NM_004099 "CCDS75892|CCDS6831|CCDS6830" P27105 1883838 MGI:95403 RGD:1305109 133090 471166 HGNC:3383 "ENST00000286713.7|NM_004099.6" +HGNC:14560 STOML1 stomatin like 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "hUNC-24|SLP-1|STORP|FLJ36370" "stomatin-like 1|stomatin (EBP72)-like 1|EPB72-like 1" stomatin (EPB72)-like 1 Stomatin family 1734 2001-02-27 2015-12-01 2023-01-20 9399 ENSG00000067221 OTTHUMG00000137608 uc002awe.5 Y16522 NM_004809 "CCDS58382|CCDS58384|CCDS58385|CCDS10254|CCDS58383|CCDS58381" Q9UBI4 9931417 MGI:1916356 RGD:1559463 608326 HGNC:14560 "ENST00000541638.6|NM_004809.5" +HGNC:14559 STOML2 stomatin like 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "SLP-2|HSPC108" EPB72-like 2 stomatin (EPB72)-like 2 Stomatin family 1734 2001-02-05 2015-12-01 2023-01-20 30968 ENSG00000165283 OTTHUMG00000019851 uc003zwi.5 AF190167 NM_013442 "CCDS75830|CCDS6577|CCDS69588" Q9UJZ1 "10713127|17121834" MGI:1913842 RGD:1308285 608292 HGNC:14559 "ENST00000356493.10|NM_013442.3" HGNC:19420 STOML3 stomatin like 3 protein-coding gene gene with protein product Approved 13q13.2 13q13.2 "SRO|Epb7.2l" EPB72-like 3 stomatin (EPB72)-like 3 Stomatin family 1734 2002-11-11 2015-12-01 2023-01-20 161003 ENSG00000133115 OTTHUMG00000016763 uc001uwx.4 BC025760 NM_001144033 Q8TAV4 12122055 MGI:2388072 RGD:1311090 608327 HGNC:19420 "ENST00000379631.9|NM_145286.3" HGNC:17003 STON1 stonin 1 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "SBLF|stoned-b1" stoned B homolog 1 (Drosophila) 2006-02-10 2023-01-20 11037 ENSG00000243244 OTTHUMG00000129169 uc010fbm.4 AF026169 NM_006873 CCDS1841 Q9Y6Q2 "14504226|10364255" MGI:1924307 RGD:727878 605357 HGNC:17003 "ENST00000404752.6|NM_006873.4" HGNC:30651 STON1-GTF2A1L STON1-GTF2A1L readthrough other readthrough Approved 2p16.3 02p16.3 SALF stoned B/TFIIA alpha/beta like factor 2007-07-31 2023-03-15 286749 ENSG00000068781 OTTHUMG00000152037 uc061jag.1 AF026169 NM_001198593 "10364255|11159353" MGI:1924307 HGNC:30651 HGNC:30652 STON2 stonin 2 protein-coding gene gene with protein product Approved 14q31.1 14q31.1 "STNB2|STN2" stoned B homolog 2 (Drosophila) 2006-02-10 2023-03-15 85439 ENSG00000140022 OTTHUMG00000171416 uc059dyl.1 AB208948 NM_033104 "CCDS91915|CCDS58332|CCDS91914" Q8WXE9 "11381094|11454741" MGI:1918272 RGD:1311502 608467 HGNC:30652 "ENST00000614646.5|NM_001394390.1" -HGNC:23508 STOX1 storkhead box 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 FLJ25162 C10orf24 chromosome 10 open reading frame 24 2003-11-21 2005-04-04 2005-04-04 2023-03-15 219736 ENSG00000165730 OTTHUMG00000018367 uc001jos.3 AK057891 NM_152709 "CCDS44416|CCDS44417|CCDS41535" Q6ZVD7 MGI:2684909 RGD:1310622 609397 361372 HGNC:23508 "ENST00000298596.11|NM_152709.5" +HGNC:23508 STOX1 storkhead box 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 FLJ25162 C10orf24 chromosome 10 open reading frame 24 2003-11-21 2005-04-04 2005-04-04 2023-03-15 219736 ENSG00000165730 OTTHUMG00000018367 uc001jos.3 AK057891 NM_152709 "CCDS44417|CCDS41535|CCDS44416" Q6ZVD7 MGI:2684909 RGD:1310622 609397 361372 HGNC:23508 "ENST00000298596.11|NM_152709.5" HGNC:25450 STOX2 storkhead box 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 DKFZp762K222 2005-04-04 2023-01-20 56977 ENSG00000173320 OTTHUMG00000160618 uc003ivz.2 AB037813 NM_020225 CCDS47167 Q9P2F5 MGI:1918319 RGD:708477 617359 HGNC:25450 "ENST00000308497.9|NM_020225.3" -HGNC:28070 STPG1 sperm tail PG-rich repeat containing 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FLJ33340|MAPO2" O6-methylguanine-induced apoptosis 2 C1orf201 chromosome 1 open reading frame 201 2006-02-15 2012-07-30 2016-02-26 2023-01-20 90529 ENSG00000001460 OTTHUMG00000003297 uc001bja.4 BC047705 NM_178122 "CCDS55581|CCDS253" Q5TH74 23028632 MGI:1926056 RGD:1560169 615826 HGNC:28070 "ENST00000337248.9|NM_001199013.2" +HGNC:28070 STPG1 sperm tail PG-rich repeat containing 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FLJ33340|MAPO2" O6-methylguanine-induced apoptosis 2 C1orf201 chromosome 1 open reading frame 201 2006-02-15 2012-07-30 2016-02-26 2023-01-20 90529 ENSG00000001460 OTTHUMG00000003297 uc001bja.4 BC047705 NM_178122 "CCDS253|CCDS55581" Q5TH74 23028632 MGI:1926056 RGD:1560169 615826 HGNC:28070 "ENST00000337248.9|NM_001199013.2" HGNC:28712 STPG2 sperm tail PG-rich repeat containing 2 protein-coding gene gene with protein product Approved 4q22.3-q23 04q22.3-q23 MGC46496 C4orf37 chromosome 4 open reading frame 37 2007-06-14 2012-07-30 2016-02-26 2023-01-20 285555 ENSG00000163116 OTTHUMG00000131009 uc003htt.3 BC036870 NM_174952 CCDS3645 Q8N412 23031811 MGI:2685863 RGD:1591946 HGNC:28712 "ENST00000295268.4|NM_174952.3" HGNC:41209 STPG2-AS1 STPG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q22.3 04q22.3 STPG2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-07-30 2012-08-15 2014-11-19 101410545 ENSG00000251620 OTTHUMG00000161180 uc031sgo.1 DA719663 NR_102713 STPG2-AS1 HGNC:41209 -HGNC:37285 STPG3 sperm-tail PG-rich repeat containing 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FLJ40246 C9orf173 chromosome 9 open reading frame 173 2009-10-02 2016-04-22 2016-04-22 2023-01-20 441476 ENSG00000197768 OTTHUMG00000187404 uc004cmj.2 NM_001004353 "CCDS75941|CCDS59156|CCDS48065|CCDS75940" Q8N7X2 MGI:1921722 RGD:1561978 HGNC:37285 "ENST00000412566.6|NM_001004353.4" +HGNC:37285 STPG3 sperm-tail PG-rich repeat containing 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FLJ40246 C9orf173 chromosome 9 open reading frame 173 2009-10-02 2016-04-22 2016-04-22 2023-01-20 441476 ENSG00000197768 OTTHUMG00000187404 uc004cmj.2 NM_001004353 "CCDS48065|CCDS75940|CCDS59156|CCDS75941" Q8N7X2 MGI:1921722 RGD:1561978 HGNC:37285 "ENST00000412566.6|NM_001004353.4" HGNC:51176 STPG3-AS1 STPG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 C9orf173-AS1 C9orf173 antisense RNA 1 Antisense RNAs 1987 2014-07-31 2016-08-12 2016-08-12 2016-08-12 100129722 ENSG00000275549 OTTHUMG00000187409 AK097764 NR_038389 HGNC:51176 HGNC:26850 STPG4 sperm-tail PG-rich repeat containing 4 protein-coding gene gene with protein product Approved 2p21 02p21 FLJ40172 C2orf61 chromosome 2 open reading frame 61 2007-07-10 2017-03-17 2017-03-17 2023-01-20 285051 ENSG00000239605 OTTHUMG00000128851 uc002rvs.3 AK097491 NM_173649 "CCDS1831|CCDS54356" Q8N801 MGI:1922717 RGD:1591638 HGNC:26850 "ENST00000445927.7|NM_001163561.2" -HGNC:30650 STRA6 signaling receptor and transporter of retinol STRA6 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 FLJ12541 "retinol binding protein 4 receptor|RBP receptor" "stimulated by retinoic acid gene 6 homolog (mouse)|stimulated by retinoic acid 6" 2004-12-20 2019-10-09 2023-01-20 64220 ENSG00000137868 OTTHUMG00000138998 uc059lgy.1 AF352728 NM_001142617 "CCDS10261|CCDS45302|CCDS45301|CCDS55974|CCDS58387|CCDS55973" Q9BX79 "17255476|17273977|27563101" MGI:107742 RGD:1307551 LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=STRA6 610745 138526 HGNC:30650 "ENST00000395105.9|NM_022369.4" HGNC:30650 +HGNC:30650 STRA6 signaling receptor and transporter of retinol STRA6 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 FLJ12541 "retinol binding protein 4 receptor|RBP receptor" "stimulated by retinoic acid gene 6 homolog (mouse)|stimulated by retinoic acid 6" 2004-12-20 2019-10-09 2023-01-20 64220 ENSG00000137868 OTTHUMG00000138998 uc059lgy.1 AF352728 NM_001142617 "CCDS10261|CCDS55973|CCDS58387|CCDS45302|CCDS45301|CCDS55974" Q9BX79 "17255476|17273977|27563101" MGI:107742 RGD:1307551 LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=STRA6 610745 138526 HGNC:30650 "ENST00000395105.9|NM_022369.4" HGNC:30650 HGNC:53830 STRA6LP STRA6 like, pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 2018-03-28 2021-08-03 112272565 ENSG00000254633 OTTHUMG00000166999 NG_056705 MGI:1921402 RGD:1305807 HGNC:53830 HGNC:30653 STRA8 stimulated by retinoic acid 8 protein-coding gene gene with protein product Approved 7q33 07q33 "stimulated by retinoic acid gene 8 homolog (mouse)|stimulated by retinoic acid 8 homolog (mouse)" 2006-10-20 2012-12-07 2023-01-20 346673 ENSG00000146857 OTTHUMG00000155415 uc011kpx.2 AF513502 NM_182489 CCDS94209 Q7Z7C7 "12489526|27563101" MGI:107917 RGD:1562852 609987 HGNC:30653 "ENST00000662584.2|NM_001394401.1" HGNC:30653 -HGNC:30172 STRADA STE20 related adaptor alpha protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "NY-BR-96|LYK5|Stlk|STRAD" STE20-like pseudokinase STE20-related kinase adaptor alpha 2008-09-15 2018-11-09 2023-01-20 92335 ENSG00000266173 OTTHUMG00000178908 uc002jbm.4 AF308302 NM_001003786 "CCDS54156|CCDS92378|CCDS32703|CCDS92377|CCDS42367|CCDS86630|CCDS86626|CCDS86633|CCDS11642|CCDS92380|CCDS86625|CCDS58585|CCDS86632" Q7RTN6 "12805220|17921699" MGI:1919399 RGD:727905 608626 objectId:2227 HGNC:30172 "ENST00000336174.12|NM_001003787.4" HGNC:30172 +HGNC:30172 STRADA STE20 related adaptor alpha protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "NY-BR-96|LYK5|Stlk|STRAD" STE20-like pseudokinase STE20-related kinase adaptor alpha 2008-09-15 2018-11-09 2023-01-20 92335 ENSG00000266173 OTTHUMG00000178908 uc002jbm.4 AF308302 NM_001003786 "CCDS92380|CCDS86625|CCDS92378|CCDS92377|CCDS86626|CCDS86630|CCDS86632|CCDS58585|CCDS86633|CCDS11642|CCDS42367|CCDS32703|CCDS54156" Q7RTN6 "12805220|17921699" MGI:1919399 RGD:727905 608626 objectId:2227 HGNC:30172 "ENST00000336174.12|NM_001003787.4" HGNC:30172 HGNC:13205 STRADB STE20 related adaptor beta protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CALS-21|PAPK|ILPIPA|ILPIP" ALS2CR2 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2|STE20-related kinase adaptor beta" 2001-02-13 2008-09-15 2018-11-09 2023-01-20 55437 ENSG00000082146 OTTHUMG00000132831 uc002uyd.5 AB038950 NM_018571 "CCDS56161|CCDS2348" Q9C0K7 "11161814|14511394" MGI:2144047 RGD:1559449 607333 objectId:2228 HGNC:13205 "ENST00000194530.8|NM_018571.6" HGNC:22478 STRADBP1 STE20-related kinase adaptor beta pseudogene 1 pseudogene pseudogene Approved 7q36.1 07q36.1 "STLK6ps1|ALS2CR2P1" 2010-09-30 2010-09-30 389599 ENSG00000213205 OTTHUMG00000157619 AC092025 NG_005932 HGNC:22478 HGNC:30796 STRAP serine/threonine kinase receptor associated protein protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "UNRIP|pt-wd|MAWD" "Unr-interacting protein|mitogen-activated protein kinase activator with WD repeats|MAPK activator with WD repeats" "WD repeat domain containing|SMN complex" "362|1500" 2004-04-19 2023-01-20 11171 ENSG00000023734 OTTHUMG00000168791 uc001rdc.5 AB024327 NM_007178 CCDS8676 Q9Y3F4 MGI:1329037 RGD:1311114 605986 HGNC:30796 "ENST00000419869.7|NM_007178.4" HGNC:16462 STRBP spermatid perinuclear RNA binding protein protein-coding gene gene with protein product Approved 9q33.1-q33.3 09q33.1-q33.3 "FLJ11307|SPNR" ILF3L "spermatid perinuclear RNA-binding protein|interleukin enhancer binding factor 3-like" 2001-08-30 2001-11-28 2023-01-20 55342 ENSG00000165209 OTTHUMG00000020636 uc004bns.4 AK002169 NM_001171137 Q96SI9 MGI:104626 RGD:620673 611138 HGNC:16462 "ENST00000348403.10|NM_018387.5" HGNC:16035 STRC stereocilin protein-coding gene gene with protein product Approved 15q15.3 15q15.3 DFNB16 2001-10-03 2023-01-20 161497 ENSG00000242866 OTTHUMG00000059899 uc001zsf.4 BK000138 NM_153700 CCDS10098 Q7RTU9 "11687802|9429146" MGI:2153816 RGD:1593345 606440 159178 HGNC:16035 "ENST00000450892.7|NM_153700.2" HGNC:16035 HGNC:33915 STRCP1 stereocilin pseudogene 1 pseudogene pseudogene Approved 15q15.3 15q15.3 STRCP stereocilin pseudogene 2007-12-17 2010-02-26 2010-02-26 2014-11-19 554225 ENSG00000166763 OTTHUMG00000059934 NR_146078 A6NGW2 12825070 MGI:2153816 HGNC:33915 -HGNC:25916 STRIP1 striatin interacting protein 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ14743|KIAA1761|FAR11A" FAR11 factor arrest 11 homolog A (yeast) FAM40A family with sequence similarity 40, member A STRIPAK complex 1371 2004-05-20 2012-11-05 2012-11-05 2023-01-20 85369 ENSG00000143093 OTTHUMG00000170607 uc001dza.3 AK027649 NM_033088 "CCDS59197|CCDS30798" Q5VSL9 "11214970|12588993|22782902|22298706|18782753" MGI:2443884 RGD:1564249 617918 HGNC:25916 "ENST00000369795.8|NM_033088.4" -HGNC:22209 STRIP2 striatin interacting protein 2 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "KIAA1170|FAR11B" FAR11 factor arrest 11 homolog B (yeast) FAM40B family with sequence similarity 40, member B STRIPAK complex 1371 2004-05-20 2012-11-05 2012-11-05 2023-01-20 57464 ENSG00000128578 OTTHUMG00000157695 uc011koy.3 AB032996 NM_001134336 "CCDS47709|CCDS34752" Q9ULQ0 "22782902|22298706|18782753" MGI:2444363 RGD:1588437 617919 HGNC:22209 "ENST00000249344.7|NM_020704.3" HGNC:22209 +HGNC:25916 STRIP1 striatin interacting protein 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ14743|KIAA1761|FAR11A" FAR11 factor arrest 11 homolog A (yeast) FAM40A family with sequence similarity 40, member A STRIPAK complex 1371 2004-05-20 2012-11-05 2012-11-05 2023-01-20 85369 ENSG00000143093 OTTHUMG00000170607 uc001dza.3 AK027649 NM_033088 "CCDS30798|CCDS59197" Q5VSL9 "11214970|12588993|22782902|22298706|18782753" MGI:2443884 RGD:1564249 617918 HGNC:25916 "ENST00000369795.8|NM_033088.4" +HGNC:22209 STRIP2 striatin interacting protein 2 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "KIAA1170|FAR11B" FAR11 factor arrest 11 homolog B (yeast) FAM40B family with sequence similarity 40, member B STRIPAK complex 1371 2004-05-20 2012-11-05 2012-11-05 2023-01-20 57464 ENSG00000128578 OTTHUMG00000157695 uc011koy.3 AB032996 NM_001134336 "CCDS34752|CCDS47709" Q9ULQ0 "22782902|22298706|18782753" MGI:2444363 RGD:1588437 617919 HGNC:22209 "ENST00000249344.7|NM_020704.3" HGNC:22209 HGNC:52297 STRIT1 small transmembrane regulator of ion transport 1 protein-coding gene gene with protein product Approved 3q25.2 03q25.2 DWORF 2019-03-17 2023-01-20 100507537 ENSG00000240045 OTTHUMG00000158471 NM_001352129 CCDS87158 P0DN84 "26816378|28436536" MGI:5593461 RGD:7663730 616891 HGNC:52297 "ENST00000489090.2|NM_001352129.2" HGNC:11424 STRN striatin protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "PPP2R6A|STRN1" protein phosphatase 2 regulatory subunit B'''alpha striatin, calmodulin-binding protein "WD repeat domain containing|Protein phosphatase 2 regulatory subunits|STRIPAK complex" "362|696|1371" 1998-03-25 2015-11-23 2023-01-20 6801 ENSG00000115808 OTTHUMG00000100959 uc002rpn.4 AJ223814 NM_003162 CCDS1784 O43815 "9693043|8769426" MGI:1333757 RGD:3782 STRN 614765 HGNC:11424 "ENST00000263918.9|NM_003162.4" -HGNC:15720 STRN3 striatin 3 protein-coding gene gene with protein product Approved 14q12 14q12 "SG2NA|PPP2R6B|S/G2NA" "cell cycle S/G2 nuclear autoantigen|protein phosphatase 2 regulatory subunit B'''beta" striatin, calmodulin binding protein 3 "WD repeat domain containing|Protein phosphatase 2 regulatory subunits|STRIPAK complex|MicroRNA protein coding host genes" "362|696|1371|1691" 2002-07-22 2015-11-23 2023-01-20 29966 ENSG00000196792 OTTHUMG00000140201 uc001wqv.2 NM_014574 "CCDS9641|CCDS41938" Q13033 "7864889|10681496" MGI:2151064 RGD:621827 614766 HGNC:15720 "ENST00000357479.10|NM_001083893.2" +HGNC:15720 STRN3 striatin 3 protein-coding gene gene with protein product Approved 14q12 14q12 "SG2NA|PPP2R6B|S/G2NA" "cell cycle S/G2 nuclear autoantigen|protein phosphatase 2 regulatory subunit B'''beta" striatin, calmodulin binding protein 3 "WD repeat domain containing|Protein phosphatase 2 regulatory subunits|STRIPAK complex|MicroRNA protein coding host genes" "362|696|1371|1691" 2002-07-22 2015-11-23 2023-01-20 29966 ENSG00000196792 OTTHUMG00000140201 uc001wqv.2 NM_014574 "CCDS41938|CCDS9641" Q13033 "7864889|10681496" MGI:2151064 RGD:621827 614766 HGNC:15720 "ENST00000357479.10|NM_001083893.2" HGNC:15721 STRN4 striatin 4 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "ZIN|PPP2R6C" "protein phosphatase 2 regulatory subunit B'''gamma|zinedin" striatin, calmodulin binding protein 4 "WD repeat domain containing|Protein phosphatase 2 regulatory subunits|STRIPAK complex" "362|696|1371" 2002-12-04 2015-11-23 2023-01-20 29888 ENSG00000090372 OTTHUMG00000183432 uc002pfl.4 AF212940 NM_001039877 "CCDS12690|CCDS42581" Q9NRL3 10748158 MGI:2142346 RGD:1307030 614767 HGNC:15721 "ENST00000263280.11|NM_013403.3" HGNC:11425 STS steroid sulfatase protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 ARSC "arylsulfatase C|steryl-sulfatase" ARSC1 "steroid sulfatase (microsomal), arylsulfatase C, isozyme S|steroid sulfatase (microsomal), isozyme S" "Sulfatases|MicroRNA protein coding host genes" "410|1691" 1986-01-01 2017-01-18 2023-01-20 412 ENSG00000101846 OTTHUMG00000021102 uc004cry.5 M16505 NM_000351 CCDS14127 P08842 MGI:98438 RGD:3783 300747 119888 3.1.6.2 HGNC:11425 "ENST00000674429.1|NM_001320752.2" HGNC:11425 HGNC:11426 STSP1 steroid sulfatase (microsomal) pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 STS-Y STSP steroid sulfatase (microsomal) pseudogene 2001-06-22 2010-04-19 2010-04-19 2016-10-05 6803 ENSG00000227166 OTTHUMG00000036409 M23946 NG_001197 3203382 PGOHUM00000233967 HGNC:11426 -HGNC:6172 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "TMC|MGC9042|STT3-A" dolichyl-diphosphooligosaccharide protein glycotransferase ITM1 "integral membrane protein 1|STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)|STT3A, catalytic subunit of the oligosaccharyltransferase complex" "STT3 oligosaccharyltransferase catalytic subunits|Oligosaccharyltransferase complex subunits" "444|445" 1996-08-01 2006-02-07 2019-01-25 2023-01-20 3703 ENSG00000134910 OTTHUMG00000165852 uc001qcd.4 BC020965 NM_152713 "CCDS8458|CCDS60998" P46977 "8941377|8634329|10234787" MGI:105124 RGD:1565793 601134 377662 2.4.99.18 HGNC:6172 "ENST00000392708.9|NM_152713.5" HGNC:6172 +HGNC:6172 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "TMC|MGC9042|STT3-A" dolichyl-diphosphooligosaccharide protein glycotransferase ITM1 "integral membrane protein 1|STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)|STT3A, catalytic subunit of the oligosaccharyltransferase complex" "STT3 oligosaccharyltransferase catalytic subunits|Oligosaccharyltransferase complex subunits" "444|445" 1996-08-01 2006-02-07 2019-01-25 2023-01-20 3703 ENSG00000134910 OTTHUMG00000165852 uc001qcd.4 BC020965 NM_152713 "CCDS60998|CCDS8458" P46977 "8941377|8634329|10234787" MGI:105124 RGD:1565793 601134 377662 2.4.99.18 HGNC:6172 "ENST00000392708.9|NM_152713.5" HGNC:6172 HGNC:44585 STT3A-AS1 STT3A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 Antisense RNAs 1987 2012-11-19 2012-11-19 105369550 ENSG00000254671 OTTHUMG00000165869 uc058iva.1 "DB470444|DB453285" NR_132372 STT3A-AS1 HGNC:44585 HGNC:30611 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B protein-coding gene gene with protein product Approved 3p23 03p23 "SIMP|FLJ90106|STT3-B" "source of immunodominant MHC associated peptides|dolichyl-diphosphooligosaccharide protein glycotransferase|Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B" "STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)|STT3B, catalytic subunit of the oligosaccharyltransferase complex" "STT3 oligosaccharyltransferase catalytic subunits|Oligosaccharyltransferase complex subunits" "444|445" 2006-02-07 2019-01-25 2023-01-20 201595 ENSG00000163527 OTTHUMG00000130673 uc011axe.3 AK027789 NM_178862 CCDS2650 Q8TCJ2 "12887896|12439619" MGI:1915542 RGD:1311563 608605 377672 2.4.99.18 HGNC:30611 "ENST00000295770.4|NM_178862.3" HGNC:30611 -HGNC:11427 STUB1 STIP1 homology and U-box containing protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "UBOX1|CHIP|SDCCAG7|HSPABP2|NY-CO-7" "U-box domain containing|Tetratricopeptide repeat domain containing" "365|769" 1999-11-25 2016-03-23 2023-01-20 10273 ENSG00000103266 OTTHUMG00000121140 uc002cit.4 AF039689 NM_005861 "CCDS76797|CCDS10419" Q9UNE7 "10330192|9610721" MGI:1891731 RGD:1306167 607207 395106 objectId:3202 HGNC:11427 "ENST00000219548.9|NM_005861.4" HGNC:11427 +HGNC:11427 STUB1 STIP1 homology and U-box containing protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "UBOX1|CHIP|SDCCAG7|HSPABP2|NY-CO-7" "U-box domain containing|Tetratricopeptide repeat domain containing" "365|769" 1999-11-25 2016-03-23 2023-01-20 10273 ENSG00000103266 OTTHUMG00000121140 uc002cit.4 AF039689 NM_005861 "CCDS10419|CCDS76797" Q9UNE7 "10330192|9610721" MGI:1891731 RGD:1306167 607207 395106 objectId:3202 HGNC:11427 "ENST00000219548.9|NM_005861.4" HGNC:11427 HGNC:54519 STUB1-DT STUB1 divergent transcript non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 LA16c-313D11.9 LINC02867 long intergenic non-protein coding RNA 2867 Divergent transcripts 1990 2019-09-18 2020-12-21 2020-12-21 2020-12-21 105371184 ENSG00000260394 NR_136337 26807189 HGNC:54519 HGNC:54743 STUB1P1 STUB1 pseudogene 1 pseudogene pseudogene Approved 2q31.2 02q31.2 2019-12-19 2019-12-19 391465 ENSG00000226273 NG_021591 HGNC:30491 STUM stum, mechanosensory transduction mediator homolog protein-coding gene gene with protein product Approved 1q42.12 01q42.12 DKFZp761P211 stumble homolog (Drosophila) C1orf95 chromosome 1 open reading frame 95 2005-05-31 2016-05-17 2016-05-17 2023-01-20 375057 ENSG00000203685 OTTHUMG00000037583 uc057pyu.1 AF035308 NM_001003665 "CCDS91166|CCDS31044" Q69YW2 24626929 MGI:2138735 RGD:1592263 HGNC:30491 "ENST00000366788.8|NM_001003665.4" HGNC:11433 STX1A syntaxin 1A protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "HPC-1|p35-1" STX1 syntaxin 1A (brain) Syntaxins 818 1992-09-09 2015-11-26 2023-01-20 6804 ENSG00000106089 OTTHUMG00000137422 uc003tyx.4 NM_004603 "CCDS34655|CCDS55120" Q16623 1321498 MGI:109355 RGD:69430 186590 371333 HGNC:11433 "ENST00000222812.8|NM_004603.4" HGNC:18539 STX1B syntaxin 1B protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "STX1B1|STX1B2" "syntaxin 1B1|syntaxin 1B2" Syntaxins 818 2002-04-26 2007-06-20 2007-06-20 2023-01-20 112755 ENSG00000099365 OTTHUMG00000132391 uc010cad.3 AY028792 NM_052874 CCDS10699 P61266 MGI:1930705 RGD:3784 601485 419164 HGNC:18539 "ENST00000215095.11|NM_052874.5" HGNC:18539 -HGNC:3403 STX2 syntaxin 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 EPM "STX2B|STX2C|STX2A|EPIM" epimorphin Syntaxins 818 1994-07-04 2006-04-25 2006-04-25 2023-01-20 2054 ENSG00000111450 OTTHUMG00000168365 uc001uio.6 D14582 NM_194356 "CCDS91778|CCDS9270|CCDS9269" P32856 "8938452|15943887" MGI:108059 RGD:2558 132350 HGNC:3403 "ENST00000392373.7|NM_194356.4" HGNC:3403 -HGNC:11438 STX3 syntaxin 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 STX3A syntaxin 3A Syntaxins 818 1995-11-23 2006-04-25 2006-04-25 2023-01-20 6809 ENSG00000166900 OTTHUMG00000167353 uc001nog.4 AJ002076 NM_004177 "CCDS53637|CCDS7975" Q13277 "16598260|16339081" MGI:103077 RGD:621005 600876 406595 HGNC:11438 "ENST00000337979.9|NM_004177.5" HGNC:11438 -HGNC:11439 STX4 syntaxin 4 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 p35-2 STX4A syntaxin 4A (placental) Syntaxins 818 1995-11-23 2006-04-25 2006-04-25 2023-01-20 6810 ENSG00000103496 OTTHUMG00000132404 uc002eal.5 AF026007 NM_004604 "CCDS61916|CCDS10700" Q12846 "8206394|16339081" MGI:893577 RGD:621019 186591 HGNC:11439 "ENST00000313843.8|NM_004604.5" -HGNC:11440 STX5 syntaxin 5 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 SED5 STX5A syntaxin 5A Syntaxins 818 1995-11-23 2006-04-25 2006-04-25 2023-01-20 6811 ENSG00000162236 OTTHUMG00000143864 uc001nvh.4 U26648 NM_003164 "CCDS81578|CCDS8038|CCDS58140" Q13190 "9188044|11959998" MGI:1928483 RGD:68426 603189 HGNC:11440 "ENST00000294179.8|NM_003164.5" +HGNC:3403 STX2 syntaxin 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 EPM "STX2B|STX2C|STX2A|EPIM" epimorphin Syntaxins 818 1994-07-04 2006-04-25 2006-04-25 2023-01-20 2054 ENSG00000111450 OTTHUMG00000168365 uc001uio.6 D14582 NM_194356 "CCDS9270|CCDS91778|CCDS9269" P32856 "8938452|15943887" MGI:108059 RGD:2558 132350 HGNC:3403 "ENST00000392373.7|NM_194356.4" HGNC:3403 +HGNC:11438 STX3 syntaxin 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 STX3A syntaxin 3A Syntaxins 818 1995-11-23 2006-04-25 2006-04-25 2023-01-20 6809 ENSG00000166900 OTTHUMG00000167353 uc001nog.4 AJ002076 NM_004177 "CCDS7975|CCDS53637" Q13277 "16598260|16339081" MGI:103077 RGD:621005 600876 406595 HGNC:11438 "ENST00000337979.9|NM_004177.5" HGNC:11438 +HGNC:11439 STX4 syntaxin 4 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 p35-2 STX4A syntaxin 4A (placental) Syntaxins 818 1995-11-23 2006-04-25 2006-04-25 2023-01-20 6810 ENSG00000103496 OTTHUMG00000132404 uc002eal.5 AF026007 NM_004604 "CCDS10700|CCDS61916" Q12846 "8206394|16339081" MGI:893577 RGD:621019 186591 HGNC:11439 "ENST00000313843.8|NM_004604.5" +HGNC:11440 STX5 syntaxin 5 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 SED5 STX5A syntaxin 5A Syntaxins 818 1995-11-23 2006-04-25 2006-04-25 2023-01-20 6811 ENSG00000162236 OTTHUMG00000143864 uc001nvh.4 U26648 NM_003164 "CCDS8038|CCDS81578|CCDS58140" Q13190 "9188044|11959998" MGI:1928483 RGD:68426 603189 HGNC:11440 "ENST00000294179.8|NM_003164.5" HGNC:55488 STX5-DT STX5 divergent transcript non-coding RNA RNA, long non-coding Approved 11q12.3 11q12.3 Divergent transcripts 1990 2021-03-11 2021-03-11 105369332 ENSG00000256690 NR_135084 -HGNC:11441 STX6 syntaxin 6 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 Syntaxins 818 1998-11-30 2023-01-20 10228 ENSG00000135823 OTTHUMG00000035179 uc021pfr.3 AJ002078 NM_005819 "CCDS1341|CCDS65738" O43752 10080545 MGI:1926235 RGD:61915 603944 HGNC:11441 "ENST00000258301.6|NM_005819.6" +HGNC:11441 STX6 syntaxin 6 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 Syntaxins 818 1998-11-30 2023-01-20 10228 ENSG00000135823 OTTHUMG00000035179 uc021pfr.3 AJ002078 NM_005819 "CCDS65738|CCDS1341" O43752 10080545 MGI:1926235 RGD:61915 603944 HGNC:11441 "ENST00000258301.6|NM_005819.6" HGNC:11442 STX7 syntaxin 7 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 Syntaxins 818 1998-11-30 2023-01-20 8417 ENSG00000079950 OTTHUMG00000015577 uc003qdg.3 U77942 NM_001326578 "CCDS87441|CCDS5153" O15400 9358037 MGI:1858210 RGD:619747 603217 HGNC:11442 "ENST00000367941.7|NM_003569.3" HGNC:11443 STX8 syntaxin 8 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 CARB Syntaxins 818 1999-04-15 2023-01-20 9482 ENSG00000170310 OTTHUMG00000177844 uc002glx.4 AF115323 NM_004853 CCDS32565 Q9UNK0 "9852078|10198254" MGI:1890156 RGD:61917 604203 HGNC:11443 "ENST00000306357.9|NM_004853.3" HGNC:49855 STX8P1 syntaxin 8 pseudogene 1 pseudogene pseudogene Approved 12p13.1 12p13.1 2014-03-18 2014-03-18 100423046 ENSG00000270296 OTTHUMG00000184726 NG_021191 PGOHUM00000239354 HGNC:49855 -HGNC:11428 STX10 syntaxin 10 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "hsyn10|SYN10" Syntaxins 818 1998-11-30 2023-01-20 8677 ENSG00000104915 OTTHUMG00000180759 uc002mwo.5 AF035531 NM_003765 "CCDS62569|CCDS62571|CCDS62570|CCDS32922" O60499 9446797 603765 HGNC:11428 "ENST00000587230.6|NM_003765.3" +HGNC:11428 STX10 syntaxin 10 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "hsyn10|SYN10" Syntaxins 818 1998-11-30 2023-01-20 8677 ENSG00000104915 OTTHUMG00000180759 uc002mwo.5 AF035531 NM_003765 "CCDS62570|CCDS62569|CCDS62571|CCDS32922" O60499 9446797 603765 HGNC:11428 "ENST00000587230.6|NM_003765.3" HGNC:11429 STX11 syntaxin 11 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 Syntaxins 818 1998-11-30 2023-01-20 8676 ENSG00000135604 OTTHUMG00000015739 uc003qks.5 AF044309 NM_003764 CCDS5205 O75558 9553086 MGI:1921982 RGD:1304744 "STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)|http://structure.bmc.lu.se/idbase/STX11base/|LRG_113|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_113.xml" 605014 119892 HGNC:11429 "ENST00000367568.5|NM_003764.4" HGNC:11429 HGNC:11430 STX12 syntaxin 12 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "STX13|STX14" Syntaxins 818 1998-11-30 2023-01-20 23673 ENSG00000117758 OTTHUMG00000003730 uc001bou.4 BC046999 NM_177424 CCDS310 Q86Y82 9507000 MGI:1931027 RGD:620977 606892 HGNC:11430 "ENST00000373943.9|NM_177424.3" -HGNC:11431 STX16 syntaxin 16 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "hsyn16|SYN16|SYN-16" Syntaxins 818 1998-11-30 2023-03-15 8675 ENSG00000124222 OTTHUMG00000033084 uc002xzi.4 AF038897 NM_001001433 "CCDS13468|CCDS46620|CCDS56199|CCDS46619|CCDS13469" O14662 "9464276|9587053|15800843" MGI:1923396 RGD:1309423 603666 167897 HGNC:11431 "ENST00000371141.8|NM_001001433.3" HGNC:11431 +HGNC:11431 STX16 syntaxin 16 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "hsyn16|SYN16|SYN-16" Syntaxins 818 1998-11-30 2023-03-15 8675 ENSG00000124222 OTTHUMG00000033084 uc002xzi.4 AF038897 NM_001001433 "CCDS13469|CCDS56199|CCDS46619|CCDS46620|CCDS13468" O14662 "9464276|9587053|15800843" MGI:1923396 RGD:1309423 603666 167897 HGNC:11431 "ENST00000371141.8|NM_001001433.3" HGNC:11431 HGNC:41993 STX16-NPEPL1 STX16-NPEPL1 readthrough (NMD candidate) other readthrough Approved 20q13.32 20q13.32 2011-05-31 2013-05-09 2014-11-19 100534593 ENSG00000254995 OTTHUMG00000167390 uc061yan.1 NR_037945.1 HGNC:41993 HGNC:11432 STX17 syntaxin 17 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 FLJ20651 Syntaxins 818 1998-12-03 2023-01-20 55014 ENSG00000136874 OTTHUMG00000020359 uc004bal.5 AL834371 NM_017919 CCDS6745 P56962 "9852078|15956034" MGI:1914977 RGD:708499 604204 HGNC:11432 "ENST00000259400.11|NM_017919.3" HGNC:51174 STX17-DT STX17 divergent transcript non-coding RNA RNA, long non-coding Approved 9q31.1 09q31.1 STX17-AS1 STX17 antisense RNA 1 Divergent transcripts 1990 2014-07-31 2021-03-17 2021-03-17 2022-07-13 441461 ENSG00000255145 OTTHUMG00000166238 BC030123 NR_038853 35267457 STX17-AS1 HGNC:51174 @@ -37787,17 +37790,17 @@ HGNC:48877 STX18-AS1 STX18 antisense RNA 1 (head to head) non-coding RNA RNA, lo HGNC:41415 STX18-IT1 STX18 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 STX18 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 104472519 ENSG00000248221 OTTHUMG00000159966 uc062uwo.1 NR_126434 STX18-IT1 HGNC:41415 HGNC:43995 STX18P1 syntaxin 18 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 2012-05-25 2012-05-25 100418889 NG_026236 PGOHUM00000237342 HGNC:43995 HGNC:19300 STX19 syntaxin 19 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 MGC21382 Syntaxins 818 2005-12-30 2023-01-20 415117 ENSG00000178750 OTTHUMG00000159013 uc003drh.2 AF461456 NM_001001850 CCDS33793 Q8N4C7 20545907 MGI:1915409 RGD:1597703 HGNC:19300 "ENST00000315099.3|NM_001001850.3" -HGNC:11444 STXBP1 syntaxin binding protein 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "hUNC18|MUNC18-1|UNC18|rbSec1|nSec1" syntaxin-binding protein 1 1996-12-27 2023-01-20 6812 ENSG00000136854 OTTHUMG00000020713 uc004brl.3 AF004563 NM_003165 "CCDS94489|CCDS94487|CCDS35146|CCDS94488|CCDS6874|CCDS94486" P61764 9545644 MGI:107363 RGD:3785 602926 166683 HGNC:11444 "ENST00000373299.5|NM_001032221.6" HGNC:11444 -HGNC:11445 STXBP2 syntaxin binding protein 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "UNC18B|Hunc18b|Unc18-2|MUNC18-2" 1996-12-27 2023-01-20 6813 ENSG00000076944 OTTHUMG00000182396 uc002mha.6 U63533 NM_006949 "CCDS12181|CCDS45948|CCDS62522" Q15833 8921365 MGI:107370 RGD:619967 LRG_165|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_165.xml 601717 227102 HGNC:11445 "ENST00000221283.10|NM_006949.4" HGNC:11445 +HGNC:11444 STXBP1 syntaxin binding protein 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "hUNC18|MUNC18-1|UNC18|rbSec1|nSec1" syntaxin-binding protein 1 1996-12-27 2023-01-20 6812 ENSG00000136854 OTTHUMG00000020713 uc004brl.3 AF004563 NM_003165 "CCDS6874|CCDS35146|CCDS94489|CCDS94488|CCDS94486|CCDS94487" P61764 9545644 MGI:107363 RGD:3785 602926 166683 HGNC:11444 "ENST00000373299.5|NM_001032221.6" HGNC:11444 +HGNC:11445 STXBP2 syntaxin binding protein 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "UNC18B|Hunc18b|Unc18-2|MUNC18-2" 1996-12-27 2023-01-20 6813 ENSG00000076944 OTTHUMG00000182396 uc002mha.6 U63533 NM_006949 "CCDS12181|CCDS62522|CCDS45948" Q15833 8921365 MGI:107370 RGD:619967 LRG_165|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_165.xml 601717 227102 HGNC:11445 "ENST00000221283.10|NM_006949.4" HGNC:11445 HGNC:11446 STXBP3 syntaxin binding protein 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 UNC-18C 1996-12-27 2023-01-20 6814 ENSG00000116266 OTTHUMG00000011122 uc001dvy.4 D63506 NM_007269 CCDS790 O00186 10194441 MGI:107362 RGD:619968 608339 HGNC:11446 "ENST00000370008.4|NM_007269.4" -HGNC:19694 STXBP4 syntaxin binding protein 4 protein-coding gene gene with protein product Approved 17q22 17q22 "Synip|MGC50337" PDZ domain containing 1220 2004-01-15 2023-01-20 252983 ENSG00000166263 OTTHUMG00000074043 uc002iuf.2 BC041485 NM_178509 "CCDS11584|CCDS92360" Q6ZWJ1 12855681 MGI:1342296 RGD:1307903 610415 HGNC:19694 "ENST00000376352.6|NM_178509.6" +HGNC:19694 STXBP4 syntaxin binding protein 4 protein-coding gene gene with protein product Approved 17q22 17q22 "Synip|MGC50337" PDZ domain containing 1220 2004-01-15 2023-01-20 252983 ENSG00000166263 OTTHUMG00000074043 uc002iuf.2 BC041485 NM_178509 "CCDS92360|CCDS11584" Q6ZWJ1 12855681 MGI:1342296 RGD:1307903 610415 HGNC:19694 "ENST00000376352.6|NM_178509.6" HGNC:19665 STXBP5 syntaxin binding protein 5 protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "tomosyn|LLGL3|tomosyn-1" WD repeat domain containing 362 2002-11-12 2016-01-19 2023-01-20 134957 ENSG00000164506 OTTHUMG00000015766 uc010khz.3 AK055484 NM_001127715 Q5T5C0 "9620695|14767561" MGI:1926058 RGD:708517 604586 HGNC:19665 "ENST00000321680.11|NM_001127715.4" HGNC:44183 STXBP5-AS1 STXBP5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.3 06q24.3 STXBP5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2019-06-19 729178 ENSG00000233452 OTTHUMG00000015762 uc063scl.1 BC044307 NR_034115 31212131 STXBP5-AS1 HGNC:44183 -HGNC:30757 STXBP5L syntaxin binding protein 5L protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "KIAA1006|LLGL4|tomosyn-2" "syntaxin binding protein 5-like|syntaxin binding protein 5 like" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2004-03-05 2021-04-08 2023-01-20 9515 ENSG00000145087 OTTHUMG00000159426 uc003eec.5 AB023223 NM_001308330 "CCDS77799|CCDS43137" Q9Y2K9 "10231032|14767561" MGI:2443815 RGD:1311561 609381 471168 HGNC:30757 "ENST00000471454.6|NM_001308330.2" +HGNC:30757 STXBP5L syntaxin binding protein 5L protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "KIAA1006|LLGL4|tomosyn-2" "syntaxin binding protein 5-like|syntaxin binding protein 5 like" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2004-03-05 2021-04-08 2023-01-20 9515 ENSG00000145087 OTTHUMG00000159426 uc003eec.5 AB023223 NM_001308330 "CCDS43137|CCDS77799" Q9Y2K9 "10231032|14767561" MGI:2443815 RGD:1311561 609381 471168 HGNC:30757 "ENST00000471454.6|NM_001308330.2" HGNC:19666 STXBP6 syntaxin binding protein 6 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "amisyn|HSPC156" 2002-11-12 2016-01-19 2023-01-20 29091 ENSG00000168952 OTTHUMG00000140186 uc001wpw.5 AF161505 NM_001304476 Q8NFX7 12145319 MGI:2384963 RGD:1306117 607958 HGNC:19666 "ENST00000323944.10|NM_001394410.1" HGNC:18889 STYK1 serine/threonine/tyrosine kinase 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "SuRTK106|DKFZp761P1010|NOK" Receptor tyrosine kinases 321 2005-01-21 2023-01-20 55359 ENSG00000060140 OTTHUMG00000168408 uc001qys.2 AF251059 NM_018423 CCDS8629 Q6J9G0 12841579 MGI:2141396 RGD:1564211 611433 objectId:2229 2.7.10.2 HGNC:18889 "ENST00000075503.8|NM_018423.3" HGNC:11447 STYX serine/threonine/tyrosine interacting protein protein-coding gene gene with protein product Approved 14q22.1 14q22.1 serine/threonine/tyrosine-interacting protein Atypical dual specificity phosphatases 896 1998-08-05 2001-11-29 2023-01-20 6815 ENSG00000198252 OTTHUMG00000140306 uc001xaa.4 NM_145251 CCDS9711 Q8WUJ0 7592916 MGI:1891150 RGD:1594806 615814 HGNC:11447 "ENST00000354586.5|NM_145251.4" -HGNC:18165 STYXL1 serine/threonine/tyrosine interacting like 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 MK-STYX DUSP24 dual specificity phosphatase 24 (putative) MAP kinase phosphatases 895 2005-01-20 2005-09-22 2016-07-27 2023-01-20 51657 ENSG00000127952 OTTHUMG00000130459 uc003uel.4 AF069762 NM_016086 "CCDS83193|CCDS5580" Q9Y6J8 9757831 MGI:1923821 RGD:1305845 616695 471170 HGNC:18165 "ENST00000359697.8|NM_001317785.2" +HGNC:18165 STYXL1 serine/threonine/tyrosine interacting like 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 MK-STYX DUSP24 dual specificity phosphatase 24 (putative) MAP kinase phosphatases 895 2005-01-20 2005-09-22 2016-07-27 2023-01-20 51657 ENSG00000127952 OTTHUMG00000130459 uc003uel.4 AF069762 NM_016086 "CCDS5580|CCDS83193" Q9Y6J8 9757831 MGI:1923821 RGD:1305845 616695 471170 HGNC:18165 "ENST00000359697.8|NM_001317785.2" HGNC:25034 STYXL2 serine/threonine/tyrosine interacting like 2 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 DUSP27 "dual specificity phosphatase 27 (putative)|dual specificity phosphatase 27, atypical" 2005-07-29 2020-06-01 2020-06-01 2023-01-20 92235 ENSG00000198842 OTTHUMG00000034434 uc057nat.1 AF119045 NM_001080426 CCDS30932 Q5VZP5 26302245 MGI:2685055 RGD:1560598 HGNC:25034 "ENST00000361200.7|NM_001080426.3" HGNC:19985 SUB1 SUB1 regulator of transcription protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "PC4|p15|p14" positive cofactor 4 "SUB1 homolog (S. cerevisiae)|SUB1 homolog, transcriptional regulator" 2005-08-19 2019-05-10 2023-01-20 10923 ENSG00000113387 OTTHUMG00000131071 uc063ctm.1 X79805 NM_006713 CCDS3897 P53999 "8062392|8062391|28369605" MGI:104811 RGD:621582 600503 HGNC:19985 "ENST00000265073.9|NM_006713.4" HGNC:32300 SUB1P1 SUB1 pseudogene 1 pseudogene pseudogene Approved 8p23.1 08p23.1 "SUB1 homolog (S. cerevisiae) pseudogene 1|SUB1 pseudogene 1|SUB1 homolog, transcriptional regulator pseudogene 1" 2005-10-04 2019-05-10 2019-05-10 728938 ENSG00000227203 OTTHUMG00000165367 NG_007169 PGOHUM00000249564 HGNC:32300 @@ -37817,15 +37820,15 @@ HGNC:43997 SUCLG2P2 SUCLG2 pseudogene 2 pseudogene pseudogene Approved 12q22 12q HGNC:43998 SUCLG2P3 SUCLG2 pseudogene 3 pseudogene pseudogene Approved 11q22.3 11q22.3 succinate-CoA ligase GDP-forming beta subunit pseudogene 3 2012-05-25 2019-11-26 2019-11-26 100421712 NG_024413 PGOHUM00000242466 HGNC:43998 HGNC:43999 SUCLG2P4 SUCLG2 pseudogene 4 pseudogene pseudogene Approved 5p13.3 05p13.3 succinate-CoA ligase GDP-forming beta subunit pseudogene 4 2012-05-25 2019-11-26 2019-11-26 100130528 ENSG00000249226 OTTHUMG00000160376 NG_017131 PGOHUM00000235537 HGNC:43999 HGNC:4542 SUCNR1 succinate receptor 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 GPR91 G protein-coupled receptor 91 Succinate receptor 936 2000-07-31 2004-07-09 2004-07-08 2023-01-20 56670 ENSG00000198829 OTTHUMG00000159880 uc003ezf.3 AF348078 NM_033050 CCDS3162 Q9BXA5 "11273702|15141213|17192395" MGI:1934135 RGD:1303193 606381 objectId:166 HGNC:4542 "ENST00000362032.6|NM_033050.6" -HGNC:1240 SUCO SUN domain containing ossification factor protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "CH1|SLP1|OPT" "SUN-like protein 1|osteopotentia" C1orf9 chromosome 1 open reading frame 9 1999-09-29 2012-07-10 2012-07-10 2023-01-20 51430 ENSG00000094975 OTTHUMG00000034839 uc001giq.6 AF097535 NM_016227 "CCDS65726|CCDS1303|CCDS72984|CCDS65727" Q9UBS9 "10673381|20440000" MGI:2138346 RGD:735185 619434 HGNC:1240 "ENST00000263688.4|NM_014283.5" HGNC:1240 +HGNC:1240 SUCO SUN domain containing ossification factor protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "CH1|SLP1|OPT" "SUN-like protein 1|osteopotentia" C1orf9 chromosome 1 open reading frame 9 1999-09-29 2012-07-10 2012-07-10 2023-01-20 51430 ENSG00000094975 OTTHUMG00000034839 uc001giq.6 AF097535 NM_016227 "CCDS65727|CCDS65726|CCDS1303|CCDS72984" Q9UBS9 "10673381|20440000" MGI:2138346 RGD:735185 619434 HGNC:1240 "ENST00000263688.4|NM_014283.5" HGNC:1240 HGNC:29545 SUDS3 SDS3 homolog, SIN3A corepressor complex component protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "SDS3|FLJ00052|SAP45" sin3A-associated protein, 45kDa "suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)|suppressor of defective silencing 3 homolog (S. cerevisiae)" SIN3 histone deacetylase complex subunits 1306 2006-01-27 2015-09-24 2023-01-20 64426 ENSG00000111707 OTTHUMG00000168884 uc001twz.4 AK023801 NM_022491 CCDS44993 Q9H7L9 11909966 MGI:1919204 RGD:1305986 608250 HGNC:29545 "ENST00000543473.2|NM_022491.3" HGNC:44000 SUDS3P1 SDS3 homolog, SIN3A corepressor complex component pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 "suppressor of defective silencing 3 homolog (S. cerevisiae) pseudogene 1|SUDS3 pseudogene 1" 2012-05-25 2015-09-24 2015-09-24 285647 ENSG00000249129 OTTHUMG00000163458 NG_005309 PGOHUM00000235854 HGNC:44000 -HGNC:16466 SUFU SUFU negative regulator of hedgehog signaling protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "SUFUH|SUFUXL|PRO1280" suppressor of fused homolog (Drosophila) 2001-08-28 2016-01-15 2023-01-20 51684 ENSG00000107882 OTTHUMG00000018966 uc001kvy.3 AF175770 NM_016169 "CCDS53571|CCDS7537" Q9UMX1 15367681 MGI:1345643 RGD:1559462 LRG_521|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_521.xml SUFU 607035 119896 HGNC:16466 "ENST00000369902.8|NM_016169.4" HGNC:16466 -HGNC:16001 SUGCT succinyl-CoA:glutarate-CoA transferase protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "FLJ11808|ORF19|DERP13" "Russel-Silver syndrome candidate|dermal papilla derived protein 13|succinate-hydroxymethylglutarate CoA-transferase" C7orf10 chromosome 7 open reading frame 10 2002-02-13 2013-12-12 2014-04-29 2023-01-20 79783 ENSG00000175600 OTTHUMG00000155094 AK021870 NM_024728 "CCDS55105|CCDS55106|CCDS55104" Q9HAC7 "11829489|23893049" MGI:1923221 RGD:1308114 609187 169960 2.8.3.13 HGNC:16001 "ENST00000335693.9|NM_001193313.2" HGNC:16001 +HGNC:16466 SUFU SUFU negative regulator of hedgehog signaling protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "SUFUH|SUFUXL|PRO1280" suppressor of fused homolog (Drosophila) 2001-08-28 2016-01-15 2023-01-20 51684 ENSG00000107882 OTTHUMG00000018966 uc001kvy.3 AF175770 NM_016169 "CCDS7537|CCDS53571" Q9UMX1 15367681 MGI:1345643 RGD:1559462 LRG_521|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_521.xml SUFU 607035 119896 HGNC:16466 "ENST00000369902.8|NM_016169.4" HGNC:16466 +HGNC:16001 SUGCT succinyl-CoA:glutarate-CoA transferase protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "FLJ11808|ORF19|DERP13" "Russel-Silver syndrome candidate|dermal papilla derived protein 13|succinate-hydroxymethylglutarate CoA-transferase" C7orf10 chromosome 7 open reading frame 10 2002-02-13 2013-12-12 2014-04-29 2023-01-20 79783 ENSG00000175600 OTTHUMG00000155094 AK021870 NM_024728 "CCDS55106|CCDS55105|CCDS55104" Q9HAC7 "11829489|23893049" MGI:1923221 RGD:1308114 609187 169960 2.8.3.13 HGNC:16001 "ENST00000335693.9|NM_001193313.2" HGNC:16001 HGNC:40745 SUGCT-AS1 SUGCT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 Antisense RNAs 1987 2020-03-27 2020-03-27 101928716 ENSG00000203446 OTTHUMG00000155092 NR_183314 HGNC:18643 SUGP1 SURP and G-patch domain containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "F23858|DKFZp434E2216|RBP" SF4 splicing factor 4 "G-patch domain containing|Spliceosomal A complex" "579|1504" 2003-04-11 2010-08-10 2015-11-13 2023-03-15 57794 ENSG00000105705 OTTHUMG00000182223 uc002nmh.4 AF521128 NM_021164 CCDS12399 Q8IWZ8 12594045 MGI:1917866 RGD:1310496 607992 HGNC:18643 "ENST00000247001.10|NM_172231.4" -HGNC:18641 SUGP2 SURP and G-patch domain containing 2 protein-coding gene gene with protein product Approved 19p13 19p13 KIAA0365 SFRS14 splicing factor, arginine/serine-rich 14 G-patch domain containing 579 2003-04-09 2010-08-10 2015-11-13 2023-01-20 10147 ENSG00000064607 OTTHUMG00000182997 uc002nkx.3 AB002363 NM_001017392 "CCDS82322|CCDS12392" Q8IX01 12594045 MGI:2678085 RGD:1306042 607993 HGNC:18641 "ENST00000452918.7|NM_001017392.5" -HGNC:16987 SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone protein-coding gene gene with protein product Approved 13q14.3 13q14.3 SGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 2002-11-13 2015-09-24 2023-01-20 10910 ENSG00000165416 OTTHUMG00000016977 uc001vhb.3 AF068289 NM_001130912 "CCDS45050|CCDS9436" Q9Y2Z0 "10445024|20404110" MGI:1915205 RGD:1307550 604098 HGNC:16987 "ENST00000310528.9|NM_006704.5" +HGNC:18641 SUGP2 SURP and G-patch domain containing 2 protein-coding gene gene with protein product Approved 19p13 19p13 KIAA0365 SFRS14 splicing factor, arginine/serine-rich 14 G-patch domain containing 579 2003-04-09 2010-08-10 2015-11-13 2023-01-20 10147 ENSG00000064607 OTTHUMG00000182997 uc002nkx.3 AB002363 NM_001017392 "CCDS12392|CCDS82322" Q8IX01 12594045 MGI:2678085 RGD:1306042 607993 HGNC:18641 "ENST00000452918.7|NM_001017392.5" +HGNC:16987 SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone protein-coding gene gene with protein product Approved 13q14.3 13q14.3 SGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 2002-11-13 2015-09-24 2023-01-20 10910 ENSG00000165416 OTTHUMG00000016977 uc001vhb.3 AF068289 NM_001130912 "CCDS9436|CCDS45050" Q9Y2Z0 "10445024|20404110" MGI:1915205 RGD:1307550 604098 HGNC:16987 "ENST00000310528.9|NM_006704.5" HGNC:54809 SUGT1-DT SUGT1 divergent transcript non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 Divergent transcripts 1990 2020-01-17 2020-07-16 116435302 ENSG00000273723 NR_170300 32079618 HGNC:19384 SUGT1P1 SUGT1 pseudogene 1 pseudogene pseudogene Approved 9p13.3 09p13.3 "bA255A11.1|SGT1P|MGC15151" SUGT1P "suppressor of G2 allele of SKP1 pseudogene (S. cerevisiae)|suppressor of G2 allele of SKP1 pseudogene 1 (S. cerevisiae)|suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 1|SUGT1 pseudogene 1|SGT1 homolog, MIS12 kinetochore complex assembly cochaperone pseudogene 1" 2002-11-13 2010-01-12 2018-03-28 2020-04-20 441394 ENSG00000226823 OTTHUMG00000019782 AL139008 NR_003667 HGNC:19384 HGNC:31377 SUGT1P2 SUGT1 pseudogene 2 pseudogene pseudogene Approved 3p22.3 03p22.3 "suppressor of G2 allele of SKP1 pseudogene 2 (S. cerevisiae)|suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 2|SUGT1 pseudogene 2|SGT1 homolog, MIS12 kinetochore complex assembly cochaperone pseudogene 2" 2006-03-22 2018-03-28 2018-03-28 728706 ENSG00000213842 OTTHUMG00000155904 AC138972 NG_006446 PGOHUM00000299391 HGNC:31377 @@ -37834,16 +37837,16 @@ HGNC:53832 SUGT1P4 SUGT1 pseudogene 4 pseudogene pseudogene Approved 9q22.33 09q HGNC:53834 SUGT1P4-STRA6LP SUGT1P4-STRA6LP readthrough other readthrough Approved 9q22.33 09q22.33 2018-03-29 2018-03-29 100499484 ENSG00000254876 OTTHUMG00000166998 NR_036526 HGNC:53834 HGNC:53835 SUGT1P4-STRA6LP-CCDC180 SUGT1P4-STRA6LP-CCDC180 readthrough other readthrough Approved 9q22.33 09q22.33 2018-03-29 2020-08-17 57653 ENSG00000255036 NR_036527 HGNC:53835 HGNC:20391 SULF1 sulfatase 1 protein-coding gene gene with protein product Approved 8q13.2-q13.3 08q13.2-q13.3 "KIAA1077|SULF-1|hSulf-1" Extracellular sulfatase Sulf-1 Sulfatases 410 2004-01-26 2023-01-20 23213 ENSG00000137573 OTTHUMG00000164466 uc003xyd.3 AB029000 NM_015170 CCDS6204 Q8IWU6 12368295 MGI:2138563 RGD:708554 610012 HGNC:20391 "ENST00000402687.9|NM_001128205.2" -HGNC:20392 SULF2 sulfatase 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "KIAA1247|HSULF-2|SULF-2" Sulfatases 410 2004-01-26 2023-01-20 55959 ENSG00000196562 OTTHUMG00000032675 uc002xto.4 AY101176 NM_018837 "CCDS13409|CCDS13408" Q8IWU5 12368295 MGI:1919293 RGD:1305078 610013 HGNC:20392 "ENST00000688720.1|NM_001387048.1" +HGNC:20392 SULF2 sulfatase 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "KIAA1247|HSULF-2|SULF-2" Sulfatases 410 2004-01-26 2023-01-20 55959 ENSG00000196562 OTTHUMG00000032675 uc002xto.4 AY101176 NM_018837 "CCDS13408|CCDS13409" Q8IWU5 12368295 MGI:1919293 RGD:1305078 610013 HGNC:20392 "ENST00000688720.1|NM_001387048.1" HGNC:11453 SULT1A1 sulfotransferase family 1A member 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 P-PST "STP|STP1" sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 Sulfotransferases, cytosolic 762 1993-08-23 2015-11-06 2023-03-15 6817 ENSG00000196502 OTTHUMG00000131765 uc002dqp.4 U52852 NM_001055 CCDS32420 P50225 "8288252|8912648" MGI:102896 RGD:3767 171150 2.8.2.1 HGNC:11453 "ENST00000314752.12|NM_001055.4" -HGNC:11454 SULT1A2 sulfotransferase family 1A member 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 HAST4 STP2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 Sulfotransferases, cytosolic 762 1995-08-22 2015-11-06 2023-01-20 6799 ENSG00000197165 OTTHUMG00000048082 uc002dqh.3 U34804 NM_001054 "CCDS86513|CCDS10636" P50226 "8661000|8912648" MGI:102896 601292 2.8.2.1 HGNC:11454 "ENST00000335715.9|NM_001054.4" +HGNC:11454 SULT1A2 sulfotransferase family 1A member 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 HAST4 STP2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 Sulfotransferases, cytosolic 762 1995-08-22 2015-11-06 2023-01-20 6799 ENSG00000197165 OTTHUMG00000048082 uc002dqh.3 U34804 NM_001054 "CCDS10636|CCDS86513" P50226 "8661000|8912648" MGI:102896 601292 2.8.2.1 HGNC:11454 "ENST00000335715.9|NM_001054.4" HGNC:11455 SULT1A3 sulfotransferase family 1A member 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 TL-PST STM sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 Sulfotransferases, cytosolic 762 1994-05-18 2015-11-06 2023-01-20 6818 ENSG00000261052 OTTHUMG00000048083 uc002dxk.4 U20499 NM_003166 CCDS10674 P0DMM9 "8117269|7829089" MGI:102896 600641 2.8.2.1 HGNC:11455 "ENST00000338971.10|NM_177552.4" HGNC:30004 SULT1A4 sulfotransferase family 1A member 4 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4 Sulfotransferases, cytosolic 762 2005-05-05 2015-11-06 2023-01-20 445329 ENSG00000213648 OTTHUMG00000170468 uc002dtb.4 L34160 NM_001017389 CCDS32427 P0DMN0 "15358107|15752422" MGI:102896 615819 2.8.2.1 HGNC:30004 "ENST00000360423.12|NM_001017390.3" HGNC:17845 SULT1B1 sulfotransferase family 1B member 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 ST1B2 sulfotransferase family, cytosolic, 1B, member 1 Sulfotransferases, cytosolic 762 2002-01-10 2015-11-06 2023-01-20 27284 ENSG00000173597 OTTHUMG00000129407 uc003hen.4 D89479 NM_014465 CCDS3530 O43704 "11688987|9443824" MGI:2136282 RGD:708534 608436 2.8.2.1 HGNC:17845 "ENST00000310613.8|NM_014465.4" HGNC:17845 -HGNC:11456 SULT1C2 sulfotransferase family 1C member 2 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 ST1C1 SULT1C1 "sulfotransferase family, cytosolic, 1C, member 1|sulfotransferase family, cytosolic, 1C, member 2" Sulfotransferases, cytosolic 762 1997-01-10 2007-03-16 2015-11-06 2023-01-20 6819 ENSG00000198203 OTTHUMG00000153215 uc002tdy.3 "U66036|AF186255" NM_176825 "CCDS2075|CCDS2076" O00338 "9169148|10783263" MGI:1916333 RGD:1305885 602385 2.8.2.1 HGNC:11456 "ENST00000251481.11|NM_001056.4" +HGNC:11456 SULT1C2 sulfotransferase family 1C member 2 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 ST1C1 SULT1C1 "sulfotransferase family, cytosolic, 1C, member 1|sulfotransferase family, cytosolic, 1C, member 2" Sulfotransferases, cytosolic 762 1997-01-10 2007-03-16 2015-11-06 2023-01-20 6819 ENSG00000198203 OTTHUMG00000153215 uc002tdy.3 "U66036|AF186255" NM_176825 "CCDS2076|CCDS2075" O00338 "9169148|10783263" MGI:1916333 RGD:1305885 602385 2.8.2.1 HGNC:11456 "ENST00000251481.11|NM_001056.4" HGNC:51595 SULT1C2P2 sulfotransferase family, cytosolic, 1C, member 2 pseudogene 2 pseudogene pseudogene Approved 2q12.3 02q12.3 2015-03-12 2020-04-06 106480333 ENSG00000261209 OTTHUMG00000176329 NG_045175 PGOHUM00000298615 HGNC:51595 HGNC:33543 SULT1C3 sulfotransferase family 1C member 3 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 sulfotransferase family, cytosolic, 1C, member 3 Sulfotransferases, cytosolic 762 2007-07-26 2015-11-06 2023-01-20 442038 ENSG00000196228 OTTHUMG00000153227 uc010ywo.2 BC146362 NM_001008743 "CCDS92828|CCDS33267" Q6IMI6 "14676822|17425406" MGI:102928 RGD:3768 617151 2.8.2.1 HGNC:33543 "ENST00000681802.2|NM_001320878.2" -HGNC:11457 SULT1C4 sulfotransferase family 1C member 4 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 SULT1C SULT1C2 "sulfotransferase family, cytosolic, 1C, member 2|sulfotransferase family, cytosolic, 1C, member 4" Sulfotransferases, cytosolic 762 2000-01-21 2007-03-16 2015-11-06 2023-01-20 27233 ENSG00000198075 OTTHUMG00000130958 uc002tea.2 AF055584 NM_006588 "CCDS82492|CCDS2077" O75897 "10783263|9852044" MGI:102928 608357 2.8.2.1 HGNC:11457 "ENST00000272452.7|NM_006588.4" +HGNC:11457 SULT1C4 sulfotransferase family 1C member 4 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 SULT1C SULT1C2 "sulfotransferase family, cytosolic, 1C, member 2|sulfotransferase family, cytosolic, 1C, member 4" Sulfotransferases, cytosolic 762 2000-01-21 2007-03-16 2015-11-06 2023-01-20 27233 ENSG00000198075 OTTHUMG00000130958 uc002tea.2 AF055584 NM_006588 "CCDS2077|CCDS82492" O75897 "10783263|9852044" MGI:102928 608357 2.8.2.1 HGNC:11457 "ENST00000272452.7|NM_006588.4" HGNC:33545 SULT1C5P sulfotransferase family 1C member 5, pseudogene pseudogene pseudogene Approved 2q12.3 02q12.3 SULT1C1P SULT1C2P1 "sulfotransferase family, cytosolic, 1C, member 2 pseudogene 1|sulfotransferase family 1C member 2 pseudogene 1" Sulfotransferases, cytosolic 762 2010-09-30 2022-09-15 2022-09-15 2022-09-15 151234 ENSG00000237223 OTTHUMG00000153216 AK056906 NR_037191 "14676822|34370005" PGOHUM00000240839 HGNC:33545 HGNC:30659 SULT1D1P sulfotransferase family 1D member 1, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 SULT1D1 "tyrosine-ester sulfotransferase|amine N-sulfotransferase" sulfotransferase family, cytosolic, 1D, member 1, pseudogene Sulfotransferases, cytosolic 762 2007-03-12 2015-11-06 2020-08-14 133150 ENSG00000236959 OTTHUMG00000154682 BK001433 NG_002642 "11688987|14676822" MGI:1926341 HGNC:30659 HGNC:56583 SULT1D1P2 sulfotransferase family 1D member 1 pseudogene 2 pseudogene pseudogene Approved 3q22.3 03q22.3 2022-11-03 2022-11-03 127482547 ENSG00000242968 NG_148553 PGOHUM00000299189 @@ -37851,17 +37854,17 @@ HGNC:11377 SULT1E1 sulfotransferase family 1E member 1 protein-coding gene gene HGNC:11458 SULT2A1 sulfotransferase family 2A member 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 DHEA-ST STD sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 Sulfotransferases, cytosolic 762 1994-03-03 2015-11-06 2023-01-20 6822 ENSG00000105398 OTTHUMG00000162469 uc002phr.2 X70222 NM_003167 CCDS12707 Q06520 "1588921|7736787" "MGI:98430|MGI:107550|MGI:3645873|MGI:3645854|MGI:3648378|MGI:3648915|MGI:3645246|MGI:1924221" RGD:621337 125263 2.8.2.2 HGNC:11458 "ENST00000222002.4|NM_003167.4" HGNC:11459 SULT2B1 sulfotransferase family 2B member 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 HSST2 sulfotransferase family, cytosolic, 2B, member 1 Sulfotransferases, cytosolic 762 1998-08-18 2015-11-06 2023-01-20 6820 ENSG00000088002 OTTHUMG00000183314 uc002pjl.4 U92314 NM_004605 "CCDS12723|CCDS12724" O00204 9799594 MGI:1926342 RGD:1308882 604125 2.8.2.2 HGNC:11459 "ENST00000201586.7|NM_177973.2" HGNC:11459 HGNC:14903 SULT4A1 sulfotransferase family 4A member 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "SULTX3|hBR-STL-1" sulfotransferase family 4A, member 1 Sulfotransferases, cytosolic 762 2001-03-14 2015-11-06 2023-03-15 25830 ENSG00000130540 OTTHUMG00000141314 uc003bee.2 AF188698 NM_014351 CCDS14051 Q9BR01 10698717 MGI:1888971 RGD:69292 608359 2.8.2.1 HGNC:14903 "ENST00000330884.9|NM_014351.4" -HGNC:33433 SULT6B1 sulfotransferase family 6B member 1 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 sulfotransferase family, cytosolic, 6B, member 1 Sulfotransferases, cytosolic 762 2007-07-26 2015-11-06 2023-01-20 391365 ENSG00000138068 OTTHUMG00000152160 uc002rpu.4 "AY289770|AY289774" NM_001032377 "CCDS92738|CCDS33182" Q6IMI4 14676822 MGI:1920921 RGD:1598187 617152 2.8.2.2 HGNC:33433 "ENST00000535679.6|NM_001367551.1" +HGNC:33433 SULT6B1 sulfotransferase family 6B member 1 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 sulfotransferase family, cytosolic, 6B, member 1 Sulfotransferases, cytosolic 762 2007-07-26 2015-11-06 2023-01-20 391365 ENSG00000138068 OTTHUMG00000152160 uc002rpu.4 "AY289770|AY289774" NM_001032377 "CCDS33182|CCDS92738" Q6IMI4 14676822 MGI:1920921 RGD:1598187 617152 2.8.2.2 HGNC:33433 "ENST00000535679.6|NM_001367551.1" HGNC:53737 SULT6B2P sulfotransferase family 6B member 2, pseudogene pseudogene pseudogene Approved 12p12.1 12p12.1 2017-10-18 2017-10-18 107984497 ENSG00000283582 OTTHUMG00000191806 XR_001749042 MGI:2685612 RGD:1561551 HGNC:53737 HGNC:20376 SUMF1 sulfatase modifying factor 1 protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "FGE|UNQ3037" 2004-04-30 2023-01-20 285362 ENSG00000144455 OTTHUMG00000090269 uc003bpz.3 BC017005 NM_182760 "CCDS54548|CCDS2564|CCDS54549" Q8NBK3 "12757705|12757706" MGI:1889844 607939 119899 HGNC:20376 "ENST00000272902.10|NM_182760.4" HGNC:20376 -HGNC:20415 SUMF2 sulfatase modifying factor 2 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 DKFZp566I1024 2004-04-30 2023-03-15 25870 ENSG00000129103 OTTHUMG00000129373 uc011kcw.3 AK075477 NM_015411 "CCDS43589|CCDS43588|CCDS55111|CCDS47589|CCDS94107|CCDS5524" Q8NBJ7 12757706 MGI:1915152 RGD:1563253 607940 HGNC:20415 "ENST00000434526.8|NM_015411.4" -HGNC:12502 SUMO1 small ubiquitin like modifier 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "PIC1|GMP1|SMT3C|SUMO-1|SMT3H3|OFC10" UBL1 "ubiquitin-like 1 (sentrin)|SMT3 suppressor of mif two 3 homolog 1 (yeast)|SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)" 1996-06-04 2004-05-19 2019-02-18 2023-01-20 7341 ENSG00000116030 OTTHUMG00000132839 uc002uyz.2 U38784 NM_003352 "CCDS92929|CCDS92928|CCDS2352|CCDS46493" P63165 "8812453|8906799" MGI:1197010 RGD:1306919 601912 138689 HGNC:12502 "ENST00000392246.7|NM_003352.8" HGNC:12502 +HGNC:20415 SUMF2 sulfatase modifying factor 2 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 DKFZp566I1024 2004-04-30 2023-03-15 25870 ENSG00000129103 OTTHUMG00000129373 uc011kcw.3 AK075477 NM_015411 "CCDS43589|CCDS43588|CCDS5524|CCDS55111|CCDS94107|CCDS47589" Q8NBJ7 12757706 MGI:1915152 RGD:1563253 607940 HGNC:20415 "ENST00000434526.8|NM_015411.4" +HGNC:12502 SUMO1 small ubiquitin like modifier 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "PIC1|GMP1|SMT3C|SUMO-1|SMT3H3|OFC10" UBL1 "ubiquitin-like 1 (sentrin)|SMT3 suppressor of mif two 3 homolog 1 (yeast)|SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)" 1996-06-04 2004-05-19 2019-02-18 2023-01-20 7341 ENSG00000116030 OTTHUMG00000132839 uc002uyz.2 U38784 NM_003352 "CCDS92928|CCDS2352|CCDS46493|CCDS92929" P63165 "8812453|8906799" MGI:1197010 RGD:1306919 601912 138689 HGNC:12502 "ENST00000392246.7|NM_003352.8" HGNC:12502 HGNC:33148 SUMO1P1 SUMO1 pseudogene 1 pseudogene pseudogene Approved 20q13.2 20q13.2 PIC1L "UBL2|UBL6" "ubiquitin-like 2|ubiquitin-like 6" 2006-10-16 2014-11-19 391257 ENSG00000241721 OTTHUMG00000032770 NR_002189 G2XKQ0 "12383504|9465300" PGOHUM00000247564 HGNC:33148 HGNC:33149 SUMO1P2 SUMO1 pseudogene 2 pseudogene pseudogene Approved 1q24.2 01q24.2 2006-10-16 2014-11-19 474337 ENSG00000229612 OTTHUMG00000034587 NG_004725 "12383504|9465300" PGOHUM00000245077 HGNC:33149 HGNC:33150 SUMO1P3 SUMO1 pseudogene 3 pseudogene pseudogene Approved 1q23.2 01q23.2 SUMO1 pseudogene 3 (functional) 2006-10-16 2016-01-29 2016-01-29 474338 ENSG00000235082 OTTHUMG00000033120 NR_002190 "12383504|9465300|23996296" HGNC:33150 HGNC:33151 SUMO1P4 SUMO1 pseudogene 4 pseudogene pseudogene Approved 19q13.33 19q13.33 2006-10-16 2016-10-05 101290502 ENSG00000235555 OTTHUMG00000154914 NG_033172 "12383504|9465300" PGOHUM00000234734 HGNC:33151 HGNC:33152 SUMO1P5 SUMO1 pseudogene 5 pseudogene pseudogene Approved 5q23.2 05q23.2 2007-12-20 2007-12-20 474341 NG_021192 "12383504|9465300" HGNC:33152 -HGNC:11125 SUMO2 small ubiquitin like modifier 2 protein-coding gene gene with protein product Approved 17q25 17q25 SMT3B SMT3H2 "SMT3 (suppressor of mif two 3, yeast) homolog 2|SMT3 suppressor of mif two 3 homolog 2 (yeast)|SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)" 1997-01-29 2004-05-19 2019-02-18 2023-01-20 6613 ENSG00000188612 OTTHUMG00000179481 uc002jne.4 NM_006937 "CCDS45773|CCDS45774" P61956 8630065 MGI:2158813 RGD:621761 603042 HGNC:11125 "ENST00000420826.7|NM_006937.4" +HGNC:11125 SUMO2 small ubiquitin like modifier 2 protein-coding gene gene with protein product Approved 17q25 17q25 SMT3B SMT3H2 "SMT3 (suppressor of mif two 3, yeast) homolog 2|SMT3 suppressor of mif two 3 homolog 2 (yeast)|SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)" 1997-01-29 2004-05-19 2019-02-18 2023-06-07 6613 ENSG00000188612 OTTHUMG00000179481 uc002jne.4 NM_006937 "CCDS45774|CCDS45773" P61956 8630065 MGI:2158813 RGD:621761 603042 HGNC:11125 "ENST00000420826.7|NM_006937.4" HGNC:13985 SUMO2P1 SUMO2 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "SMT3Bp|dJ271M21" "SMT3H2P|SUMO2P" "SMT3 (suppressor of mif two 3, yeast) homolog 2 pseudogene|SMT3 suppressor of mif two 3 homolog 2 (yeast) pseudogene|SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene|SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 1" 2003-05-22 2010-07-07 2013-06-05 2014-11-19 285829 ENSG00000235238 OTTHUMG00000031140 NG_002750 PGOHUM00000243124 HGNC:13985 HGNC:39012 SUMO2P2 SUMO2 pseudogene 2 pseudogene pseudogene Approved 9p21.3 09p21.3 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 2 2010-09-21 2013-06-05 2014-11-19 100859924 ENSG00000227607 OTTHUMG00000019697 NG_031946 PGOHUM00000236414 HGNC:39012 HGNC:39013 SUMO2P3 SUMO2 pseudogene 3 pseudogene pseudogene Approved 7p11.2 07p11.2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 3 2010-09-21 2013-06-05 2013-06-05 652489 ENSG00000224971 OTTHUMG00000156130 NG_005815 PGOHUM00000233241 HGNC:39013 @@ -37884,9 +37887,9 @@ HGNC:49355 SUMO2P20 SUMO2 pseudogene 20 pseudogene pseudogene Approved 8q13.3 08 HGNC:55054 SUMO2P21 SUMO2 pseudogene 21 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 728825 ENSG00000228532 NG_005816 HGNC:11124 SUMO3 small ubiquitin like modifier 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 SMT3A SMT3H1 "SMT3 (suppressor of mif two 3, yeast) homolog 1|SMT3 suppressor of mif two 3 homolog 3 (yeast)|SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)" 1997-01-29 2004-05-19 2019-02-18 2023-01-20 6612 ENSG00000184900 OTTHUMG00000090256 uc002zfz.1 NM_001286416 "CCDS68220|CCDS33587" P55854 9119407 MGI:1336201 RGD:1561022 602231 HGNC:11124 "ENST00000332859.11|NM_006936.3" HGNC:21181 SUMO4 small ubiquitin like modifier 4 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 dJ281H8.4 "SMT3H4|IDDM5" "SMT3 suppressor of mif two 3 homolog 4 (yeast)|SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)|insulin-dependent diabetes mellitus 5" 2003-11-27 2004-05-19 2019-02-18 2023-01-20 387082 ENSG00000177688 OTTHUMG00000015785 uc003qml.4 NM_001002255 CCDS34549 Q6EEV6 15123604 RGD:41241227 608829 HGNC:21181 "ENST00000326669.6|NM_001002255.2" -HGNC:18587 SUN1 Sad1 and UNC84 domain containing 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "KIAA0810|FLJ12407" Sad1 unc-84 domain protein 1 UNC84A unc-84 homolog A (C. elegans) SUN family 1968 2002-09-13 2010-01-27 2010-01-27 2023-01-20 23353 ENSG00000164828 OTTHUMG00000151426 uc003sjf.4 AF202724 NM_025154 "CCDS55079|CCDS55080|CCDS47525|CCDS94043|CCDS55078|CCDS43533" O94901 11593002 MGI:1924303 RGD:1359142 607723 HGNC:18587 "ENST00000401592.6|NM_001130965.3" -HGNC:14210 SUN2 Sad1 and UNC84 domain containing 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 UNC84B unc-84 homolog B (C. elegans) SUN family 1968 2002-09-13 2010-01-27 2010-05-18 2023-01-20 25777 ENSG00000100242 OTTHUMG00000151031 uc010gxr.3 AF202723 NM_001199579 "CCDS93166|CCDS93165|CCDS13978|CCDS56231" Q9UH99 "10508607|10375507" MGI:2443011 RGD:1563141 613569 HGNC:14210 "ENST00000689035.1|NM_015374.3" -HGNC:22429 SUN3 Sad1 and UNC84 domain containing 3 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 MGC33329 SUNC1 Sad1 and UNC84 domain containing 1 SUN family 1968 2004-08-27 2010-01-27 2010-01-27 2023-01-20 256979 ENSG00000164744 OTTHUMG00000155646 uc064dof.1 AF429967 NM_152782 "CCDS34636|CCDS64647" Q8TAQ9 MGI:3041199 RGD:1591975 618984 HGNC:22429 "ENST00000297325.9|NM_001030019.2" +HGNC:18587 SUN1 Sad1 and UNC84 domain containing 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "KIAA0810|FLJ12407" Sad1 unc-84 domain protein 1 UNC84A unc-84 homolog A (C. elegans) SUN family 1968 2002-09-13 2010-01-27 2010-01-27 2023-01-20 23353 ENSG00000164828 OTTHUMG00000151426 uc003sjf.4 AF202724 NM_025154 "CCDS94043|CCDS47525|CCDS55079|CCDS55080|CCDS55078|CCDS43533" O94901 11593002 MGI:1924303 RGD:1359142 607723 HGNC:18587 "ENST00000401592.6|NM_001130965.3" +HGNC:14210 SUN2 Sad1 and UNC84 domain containing 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 UNC84B unc-84 homolog B (C. elegans) SUN family 1968 2002-09-13 2010-01-27 2010-05-18 2023-01-20 25777 ENSG00000100242 OTTHUMG00000151031 uc010gxr.3 AF202723 NM_001199579 "CCDS93165|CCDS56231|CCDS93166|CCDS13978" Q9UH99 "10508607|10375507" MGI:2443011 RGD:1563141 613569 HGNC:14210 "ENST00000689035.1|NM_015374.3" +HGNC:22429 SUN3 Sad1 and UNC84 domain containing 3 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 MGC33329 SUNC1 Sad1 and UNC84 domain containing 1 SUN family 1968 2004-08-27 2010-01-27 2010-01-27 2023-01-20 256979 ENSG00000164744 OTTHUMG00000155646 uc064dof.1 AF429967 NM_152782 "CCDS64647|CCDS34636" Q8TAQ9 MGI:3041199 RGD:1591975 618984 HGNC:22429 "ENST00000297325.9|NM_001030019.2" HGNC:16252 SUN5 Sad1 and UNC84 domain containing 5 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ726C3.1|TSARG4" testis and spermatogenesis related gene 4 SPAG4L sperm associated antigen 4-like SUN family 1968 2001-07-17 2010-01-27 2010-01-27 2023-01-20 140732 ENSG00000167098 OTTHUMG00000032239 uc002wyi.4 AL121756 NM_080675 CCDS13209 Q8TC36 "9691178|10373309" MGI:1923657 RGD:1306357 613942 HGNC:16252 "ENST00000356173.8|NM_080675.4" HGNC:16252 HGNC:55385 SUNO1 S-phase upregulated non-coding 1 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Long non-coding RNAs with non-systematic symbols 1992 2020-12-10 2020-12-10 119863868 ENSG00000277013 XR_007067231 33108271 HGNC:11460 SUOX sulfite oxidase protein-coding gene gene with protein product Approved 12q13.2 12q13.2 1997-03-21 2023-01-20 6821 ENSG00000139531 OTTHUMG00000128503 uc001siz.4 BC065193 NM_000456 CCDS8901 P51687 7599189 MGI:2446117 RGD:619994 606887 119902 1.8.3.1 HGNC:11460 "ENST00000266971.8|NM_001032386.2" HGNC:11460 @@ -37894,9 +37897,9 @@ HGNC:11466 SUPT3H SPT3 homolog, SAGA and STAGA complex component protein-coding HGNC:11467 SUPT4H1 SPT4 homolog, DSIF elongation factor subunit protein-coding gene gene with protein product Approved 17q22 17q22 "SPT4H|Spt4|Supt4a" SUPT4H "suppressor of Ty (S.cerevisiae) 4 homolog 1|suppressor of Ty 4 homolog 1 (S. cerevisiae)" 1995-11-30 2015-09-25 2023-01-20 6827 ENSG00000213246 OTTHUMG00000178926 uc002iwe.3 U38817 NM_003168 CCDS11606 P63272 "8786137|10075709" MGI:107416 RGD:1306372 603555 HGNC:11467 "ENST00000225504.8|NM_003168.3" HGNC:33981 SUPT4H1P1 SPT4 homolog, DSIF elongation factor subunit pseudogene pseudogene pseudogene Approved 2p12 02p12 SUPT4H1P SUPT4H1 pseudogene 2008-01-31 2015-09-25 2015-09-25 2015-09-25 100190947 ENSG00000226247 OTTHUMG00000152940 NG_008701 PGOHUM00000297921 HGNC:33981 HGNC:50823 SUPT4H1P2 SPT4 homolog, DSIF elongation factor subunit pseudogene 2 pseudogene pseudogene Approved 12p13.31 12p13.31 2015-09-25 2015-09-25 2015-09-25 100287625 ENSG00000246115 OTTHUMG00000168673 NG_030121 PGOHUM00000239323 HGNC:50823 -HGNC:11469 SUPT5H SPT5 homolog, DSIF elongation factor subunit protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "SPT5H|SPT5|FLJ34157" "suppressor of Ty (S.cerevisiae) 5 homolog|suppressor of Ty 5 homolog (S. cerevisiae)" 1995-12-04 2015-09-25 2023-01-20 6829 ENSG00000196235 OTTHUMG00000182973 uc002olo.5 U56402 NM_003169 "CCDS46072|CCDS12536" O00267 "8975720|10075709" MGI:1202400 RGD:1563807 602102 471174 HGNC:11469 "ENST00000432763.7|NM_001111020.3" +HGNC:11469 SUPT5H SPT5 homolog, DSIF elongation factor subunit protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "SPT5H|SPT5|FLJ34157" "suppressor of Ty (S.cerevisiae) 5 homolog|suppressor of Ty 5 homolog (S. cerevisiae)" 1995-12-04 2015-09-25 2023-01-20 6829 ENSG00000196235 OTTHUMG00000182973 uc002olo.5 U56402 NM_003169 "CCDS12536|CCDS46072" O00267 "8975720|10075709" MGI:1202400 RGD:1563807 602102 471174 HGNC:11469 "ENST00000432763.7|NM_001111020.3" HGNC:11470 SUPT6H SPT6 homolog, histone chaperone and transcription elongation factor protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA0162|SPT6H" "suppressor of Ty (S.cerevisiae) 6 homolog|suppressor of Ty 6 homolog (S. cerevisiae)|SPT6 homolog, histone chaperone" SH2 domain containing 741 1995-12-04 2019-02-01 2023-01-20 6830 ENSG00000109111 OTTHUMG00000179449 uc002hby.4 U38658 NM_003170 CCDS32596 Q7KZ85 "8786132|19141475|23503590" MGI:107726 RGD:1309290 601333 HGNC:11470 "ENST00000314616.11|NM_003170.5" -HGNC:30632 SUPT7L SPT7 like, STAGA complex subunit gamma protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "STAF65gamma|KIAA0764|SPT7L|STAF65" suppressor of Ty 7 (S. cerevisiae)-like SAGA complex 1059 2005-06-24 2019-11-26 2023-01-20 9913 ENSG00000119760 OTTHUMG00000151947 uc002rli.3 AF197954 NM_014860 "CCDS42667|CCDS62885|CCDS62886" O94864 "11564863|24852358" MGI:1919445 RGD:1562206 612762 HGNC:30632 "ENST00000337768.10|NM_014860.3" +HGNC:30632 SUPT7L SPT7 like, STAGA complex subunit gamma protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "STAF65gamma|KIAA0764|SPT7L|STAF65" suppressor of Ty 7 (S. cerevisiae)-like SAGA complex 1059 2005-06-24 2019-11-26 2023-01-20 9913 ENSG00000119760 OTTHUMG00000151947 uc002rli.3 AF197954 NM_014860 "CCDS62886|CCDS62885|CCDS42667" O94864 "11564863|24852358" MGI:1919445 RGD:1562206 612762 HGNC:30632 "ENST00000337768.10|NM_014860.3" HGNC:11465 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "FACT|FACTP140|SPT16/CDC68|FLJ14010|FLJ10857|CDC68" facilitates chromatin remodeling 140 kDa subunit "suppressor of Ty (S.cerevisiae) 16 homolog|suppressor of Ty 16 homolog (S. cerevisiae)" "M24 metallopeptidase family|Armadillo like helical domain containing" "1442|1492" 1996-08-21 2015-09-25 2023-01-20 11198 ENSG00000092201 OTTHUMG00000029685 uc001wao.2 AF152961 NM_007192 CCDS9569 Q9Y5B9 "9489704|11239457" MGI:1890948 RGD:1310032 605012 M24.974 HGNC:11465 "ENST00000216297.7|NM_007192.4" HGNC:11465 HGNC:31388 SUPT16HP1 SPT16 homolog, facilitates chromatin remodeling subunit pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 bcm670 SUPT16HP "suppressor of Ty 16 homolog (S. cerevisiae) pseudogene|suppressor of Ty 16 homolog (S. cerevisiae) pseudogene 1" 2008-01-31 2013-10-18 2015-09-25 2015-09-25 400011 ENSG00000256238 OTTHUMG00000168818 XR_016968 PGOHUM00000291253 HGNC:31388 HGNC:20596 SUPT20H SPT20 homolog, SAGA complex component protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "SPT20|bA421P11.4|P38IP" "p38 interacting protein|transcription factor (p38 interacting protein)" "C13orf19|FAM48A" "chromosome 13 open reading frame 19|family with sequence similarity 48, member A|suppressor of Ty 20 homolog (S. cerevisiae)" SAGA complex 1059 2004-04-16 2012-11-29 2015-09-25 2023-01-20 55578 ENSG00000102710 OTTHUMG00000016747 uc001uwj.4 AF093250 NM_017569 "CCDS61311|CCDS9362|CCDS31959" Q8NEM7 "12070015|16685401|19114550" MGI:1929651 RGD:1307812 613417 HGNC:20596 "ENST00000350612.11|NM_001014286.3" @@ -37905,42 +37908,42 @@ HGNC:31797 SUPT20HL2 SUPT20H like 2 protein-coding gene gene with protein produc HGNC:11471 SUPV3L1 Suv3 like RNA helicase protein-coding gene gene with protein product Approved 10q22.1 10q22.1 SUV3 "suppressor of var1 (S.cerevisiae) 3-like 1|suppressor of var1, 3-like 1 (S. cerevisiae)" RNA helicases 1168 1998-02-20 2016-01-08 2023-01-20 6832 ENSG00000156502 OTTHUMG00000018375 uc001jpe.2 AF042169 NM_003171 CCDS7287 Q8IYB8 "9925937|16176273|25446650" MGI:2441711 RGD:1305565 605122 HGNC:11471 "ENST00000359655.9|NM_003171.5" HGNC:11474 SURF1 SURF1 cytochrome c oxidase assembly factor protein-coding gene gene with protein product Approved 9q34.2 09q34.2 SHY1 surfeit locus protein 1 surfeit 1 Mitochondrial respiratory chain complex assembly factors 645 1989-11-29 2019-01-22 2023-01-20 6834 ENSG00000148290 OTTHUMG00000020866 uc004cdh.3 NM_003172 "CCDS6966|CCDS75928" Q15526 "8499913|9843204" MGI:98443 RGD:620527 185620 119904 HGNC:11474 "ENST00000371974.8|NM_003172.4" HGNC:11474 HGNC:11475 SURF2 surfeit 2 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 surfeit locus protein 2 1989-11-29 2023-01-20 6835 ENSG00000148291 OTTHUMG00000020867 uc004cdi.4 NM_017503 CCDS6967 Q15527 MGI:98444 RGD:1565817 185630 HGNC:11475 "ENST00000371964.5|NM_017503.5" -HGNC:11476 SURF4 surfeit 4 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "ERV29|FLJ22993|MGC102753" "surfeit locus protein 4|surface 4 integral membrane protein" 1989-11-29 2023-01-20 6836 ENSG00000148248 OTTHUMG00000020868 uc004cdj.5 NM_033161 "CCDS65178|CCDS65177|CCDS6968|CCDS75929" O15260 "8499913|7540914" MGI:98445 RGD:1561980 185660 HGNC:11476 "ENST00000371989.8|NM_033161.4" +HGNC:11476 SURF4 surfeit 4 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "ERV29|FLJ22993|MGC102753" "surfeit locus protein 4|surface 4 integral membrane protein" 1989-11-29 2023-01-20 6836 ENSG00000148248 OTTHUMG00000020868 uc004cdj.5 NM_033161 "CCDS75929|CCDS65178|CCDS6968|CCDS65177" O15260 "8499913|7540914" MGI:98445 RGD:1561980 185660 HGNC:11476 "ENST00000371989.8|NM_033161.4" HGNC:11478 SURF6 surfeit 6 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "FLJ30322|RRP14" surfeit locus protein 6 1998-03-20 2023-01-20 6838 ENSG00000148296 OTTHUMG00000020871 uc004cdb.6 AF186772 NM_006753 CCDS6962 O75683 "9740673|15629442|21063453" MGI:98447 RGD:1307382 185642 HGNC:11478 "ENST00000372022.6|NM_006753.6" HGNC:37722 SURF6P1 surfeit 6 pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 2010-02-05 2016-10-05 643470 ENSG00000228518 OTTHUMG00000036417 NG_016547 PGOHUM00000233969 HGNC:37722 -HGNC:25413 SUSD1 sushi domain containing 1 protein-coding gene gene with protein product Approved 9q31.3-q32 09q31.3-q32 DKFZP761E1824 Sushi domain containing 1179 2004-01-27 2023-01-20 64420 ENSG00000106868 OTTHUMG00000020499 uc004bfu.5 AL137432 NM_022486 "CCDS65106|CCDS65105|CCDS6783" Q6UWL2 12975309 MGI:3651543 RGD:1306966 HGNC:25413 "ENST00000374270.8|NM_022486.5" +HGNC:25413 SUSD1 sushi domain containing 1 protein-coding gene gene with protein product Approved 9q31.3-q32 09q31.3-q32 DKFZP761E1824 Sushi domain containing 1179 2004-01-27 2023-01-20 64420 ENSG00000106868 OTTHUMG00000020499 uc004bfu.5 AL137432 NM_022486 "CCDS65105|CCDS65106|CCDS6783" Q6UWL2 12975309 MGI:3651543 RGD:1306966 HGNC:25413 "ENST00000374270.8|NM_022486.5" HGNC:30667 SUSD2 sushi domain containing 2 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "BK65A6.2|FLJ22778|W5C5" Sushi domain containing 1179 2004-01-27 2023-01-20 56241 ENSG00000099994 OTTHUMG00000150792 uc002zzn.2 AK026431 NM_019601 CCDS13824 Q9UGT4 23406305 MGI:1918983 RGD:1308595 615825 HGNC:30667 "ENST00000358321.4|NM_019601.4" HGNC:33889 SUSD2P1 sushi domain containing 2 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 2007-11-21 2008-10-22 729568 NG_008830 HGNC:33889 HGNC:35197 SUSD2P2 sushi domain containing 2 pseudogene 2 pseudogene pseudogene Approved 22q11.21 22q11.21 2008-10-22 2017-01-17 729450 ENSG00000278110 OTTHUMG00000188356 XR_015550 PGOHUM00000297451 HGNC:35197 -HGNC:28391 SUSD3 sushi domain containing 3 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 MGC26847 Sushi domain containing 1179 2004-01-29 2023-01-20 203328 ENSG00000157303 OTTHUMG00000020241 uc033dbq.2 AK128289 NM_145006 "CCDS6701|CCDS75857|CCDS69620" Q96L08 12975309 MGI:1913579 RGD:1310933 616429 HGNC:28391 "ENST00000375472.8|NM_145006.4" -HGNC:25470 SUSD4 sushi domain containing 4 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ10052 Sushi domain containing 1179 2005-04-22 2023-01-20 55061 ENSG00000143502 OTTHUMG00000037936 uc001hny.5 AK096265 NM_017982 "CCDS31034|CCDS91160|CCDS41471" Q5VX71 23482636 MGI:2138351 RGD:1564043 615827 HGNC:25470 "ENST00000366878.9|NM_017982.4" +HGNC:28391 SUSD3 sushi domain containing 3 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 MGC26847 Sushi domain containing 1179 2004-01-29 2023-01-20 203328 ENSG00000157303 OTTHUMG00000020241 uc033dbq.2 AK128289 NM_145006 "CCDS6701|CCDS69620|CCDS75857" Q96L08 12975309 MGI:1913579 RGD:1310933 616429 HGNC:28391 "ENST00000375472.8|NM_145006.4" +HGNC:25470 SUSD4 sushi domain containing 4 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ10052 Sushi domain containing 1179 2005-04-22 2023-01-20 55061 ENSG00000143502 OTTHUMG00000037936 uc001hny.5 AK096265 NM_017982 "CCDS91160|CCDS41471|CCDS31034" Q5VX71 23482636 MGI:2138351 RGD:1564043 615827 HGNC:25470 "ENST00000366878.9|NM_017982.4" HGNC:29061 SUSD5 sushi domain containing 5 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 KIAA0527 Sushi domain containing 1179 2006-01-13 2006-01-13 2023-01-20 26032 ENSG00000173705 OTTHUMG00000155829 uc003cfo.2 AB011099 NM_015551 CCDS46787 O60279 MGI:2685972 RGD:1561132 619917 HGNC:29061 "ENST00000309558.8|NM_015551.2" HGNC:19956 SUSD6 sushi domain containing 6 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 KIAA0247 KIAA0247 Sushi domain containing 1179 2003-11-21 2014-12-08 2014-12-08 2023-01-20 9766 ENSG00000100647 OTTHUMG00000171234 D87434 NM_014734 CCDS9796 Q92537 9039502 MGI:2444661 RGD:1595528 616761 HGNC:19956 "ENST00000342745.5|NM_014734.4" -HGNC:11479 SUV39H1 SUV39H1 histone lysine methyltransferase protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 KMT1A SUV39H "suppressor of variegation 3-9 (Drosophila) homolog 1|suppressor of variegation 3-9 homolog 1 (Drosophila)|suppressor of variegation 3-9 homolog 1" "Lysine methyltransferases|SET domain containing|eNoSC complex" "487|1399|1477" 1996-04-12 2021-08-09 2023-01-20 6839 ENSG00000101945 OTTHUMG00000022701 uc004dkn.5 AF019968 NM_003173 "CCDS65252|CCDS14304" O43463 10202156 MGI:1099440 "RGD:1565028|RGD:1565692" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SUV39H1 300254 objectId:2715 HGNC:11479 "ENST00000376687.4|NM_003173.4" +HGNC:11479 SUV39H1 SUV39H1 histone lysine methyltransferase protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 KMT1A SUV39H "suppressor of variegation 3-9 (Drosophila) homolog 1|suppressor of variegation 3-9 homolog 1 (Drosophila)|suppressor of variegation 3-9 homolog 1" "Lysine methyltransferases|SET domain containing|eNoSC complex" "487|1399|1477" 1996-04-12 2021-08-09 2023-01-20 6839 ENSG00000101945 OTTHUMG00000022701 uc004dkn.5 AF019968 NM_003173 "CCDS14304|CCDS65252" O43463 10202156 MGI:1099440 "RGD:1565028|RGD:1565692" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SUV39H1 300254 objectId:2715 HGNC:11479 "ENST00000376687.4|NM_003173.4" HGNC:17287 SUV39H2 SUV39H2 histone lysine methyltransferase protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ23414|KMT1B" histone methyltransferase SUV39H2 "suppressor of variegation 3-9 homolog 2 (Drosophila)|suppressor of variegation 3-9 homolog 2" "Lysine methyltransferases|SET domain containing" "487|1399" 2003-11-11 2021-08-09 2023-01-20 79723 ENSG00000152455 OTTHUMG00000017718 uc021png.2 AK027067 NM_024670 "CCDS7104|CCDS53493|CCDS53494" Q9H5I1 11094092 MGI:1890396 RGD:1306969 606503 objectId:2716 HGNC:17287 "ENST00000354919.11|NM_001193424.2" HGNC:55188 SUV39H2-DT SUV39H2 divergent transcript non-coding RNA RNA, long non-coding Approved 10p13 10p13 Divergent transcripts 1990 2020-08-12 2020-08-12 118568810 ENSG00000272853 -HGNC:17101 SUZ12 SUZ12 polycomb repressive complex 2 subunit protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "JJAZ1|KIAA0160|CHET9" suppressor of zeste 12 homolog (Drosophila) "Zinc fingers C2H2-type|Polycomb repressive complex 2" "28|1347" 2004-12-14 2019-01-22 2023-01-20 23512 ENSG00000178691 OTTHUMG00000132813 uc002hgs.3 D63881 NM_015355 "CCDS11270|CCDS82101" Q15022 "8590280|11371647|18784248" MGI:1261758 RGD:1593621 SUZ12 606245 431087 HGNC:17101 "ENST00000322652.10|NM_015355.4" HGNC:17101 +HGNC:17101 SUZ12 SUZ12 polycomb repressive complex 2 subunit protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "JJAZ1|KIAA0160|CHET9" suppressor of zeste 12 homolog (Drosophila) "Zinc fingers C2H2-type|Polycomb repressive complex 2" "28|1347" 2004-12-14 2019-01-22 2023-01-20 23512 ENSG00000178691 OTTHUMG00000132813 uc002hgs.3 D63881 NM_015355 "CCDS82101|CCDS11270" Q15022 "8590280|11371647|18784248" MGI:1261758 RGD:1593621 SUZ12 606245 431087 HGNC:17101 "ENST00000322652.10|NM_015355.4" HGNC:17101 HGNC:32421 SUZ12P1 SUZ12 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 SUZ12P "suppressor of zeste 12 homolog pseudogene|suppressor of zeste 12 homolog pseudogene 1|SUZ12 polycomb repressive complex 2 subunit pseudogene 1" 2005-12-15 2012-04-04 2018-04-23 2018-04-23 440423 ENSG00000264538 OTTHUMG00000178989 BC047718 NG_005675 17999360 PGOHUM00000237350 HGNC:32421 HGNC:43872 SUZ12P2 SUZ12 pseudogene 2 pseudogene pseudogene Approved 14q11.2 14q11.2 "suppressor of zeste 12 homolog pseudogene 2|SUZ12 polycomb repressive complex 2 subunit pseudogene 2" 2012-04-04 2018-04-23 2018-04-23 100421539 NG_027340 PGOHUM00000248111 HGNC:43872 HGNC:20566 SV2A synaptic vesicle glycoprotein 2A protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "SV2|KIAA0736|SLC22B1" solute carrier family 22 member B1 Solute carrier family 22 2173 2003-02-24 2023-03-15 9900 ENSG00000159164 OTTHUMG00000012209 uc001etg.4 AB018279 NM_001278719 Q7L0J3 "7681585|10611374" MGI:1927139 RGD:619715 185860 SLC22B1 objectId:2634 HGNC:20566 "ENST00000369146.8|NM_014849.5" -HGNC:16874 SV2B synaptic vesicle glycoprotein 2B protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "KIAA0735|HsT19680|SLC22B2" solute carrier family 22 member B2 Solute carrier family 22 2173 2003-02-24 2023-03-15 9899 ENSG00000185518 OTTHUMG00000149833 uc059nkh.1 AB018278 NM_014848 "CCDS53972|CCDS10370" Q7L1I2 "9872452|7681585" MGI:1927338 RGD:619716 185861 SLC22B2 HGNC:16874 "ENST00000394232.6|NM_001323032.3" -HGNC:30670 SV2C synaptic vesicle glycoprotein 2C protein-coding gene gene with protein product Approved 5q13.3 05q13.3 SLC22B3 solute carrier family 22 member B3 Solute carrier family 22 2173 2004-04-01 2023-03-15 22987 ENSG00000122012 OTTHUMG00000162384 uc003kei.2 AB028977 NM_001297716 "CCDS43331|CCDS75261" Q496J9 "10470851|9801366" MGI:1922459 RGD:619718 610291 SLC22B3 HGNC:30670 "ENST00000502798.7|NM_014979.4" +HGNC:16874 SV2B synaptic vesicle glycoprotein 2B protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "KIAA0735|HsT19680|SLC22B2" solute carrier family 22 member B2 Solute carrier family 22 2173 2003-02-24 2023-03-15 9899 ENSG00000185518 OTTHUMG00000149833 uc059nkh.1 AB018278 NM_014848 "CCDS10370|CCDS53972" Q7L1I2 "9872452|7681585" MGI:1927338 RGD:619716 185861 SLC22B2 HGNC:16874 "ENST00000394232.6|NM_001323032.3" +HGNC:30670 SV2C synaptic vesicle glycoprotein 2C protein-coding gene gene with protein product Approved 5q13.3 05q13.3 SLC22B3 solute carrier family 22 member B3 Solute carrier family 22 2173 2004-04-01 2023-03-15 22987 ENSG00000122012 OTTHUMG00000162384 uc003kei.2 AB028977 NM_001297716 "CCDS75261|CCDS43331" Q496J9 "10470851|9801366" MGI:1922459 RGD:619718 610291 SLC22B3 HGNC:30670 "ENST00000502798.7|NM_014979.4" HGNC:55583 SV2C-AS1 SV2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 Antisense RNAs 1987 2021-04-23 2021-04-23 105379041 ENSG00000248127 NR_183290 HGNC:29204 SVBP small vasohibin binding protein protein-coding gene gene with protein product Approved 1p34.2 01p34.2 MGC45441 CCDC23 coiled-coil domain containing 23 2005-07-26 2015-06-15 2015-06-15 2023-01-20 374969 ENSG00000177868 OTTHUMG00000007566 "AL512353|CAH72714" NM_199342 CCDS474 Q8N300 20736312 MGI:1916466 RGD:1311232 617853 HGNC:29204 "ENST00000372521.9|NM_199342.4" HGNC:29204 HGNC:15985 SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "bA427L11.3|POLYDOM|FLJ13529" C9orf13 chromosome 9 open reading frame 13 Sushi domain containing 1179 2001-07-04 2005-03-17 2005-03-15 2023-01-20 79987 ENSG00000165124 OTTHUMG00000020482 uc010mtz.4 AK027870 NM_153366 CCDS48004 Q4LDE5 MGI:1928849 RGD:1588987 611691 ligandId:12044 HGNC:15985 "ENST00000374469.6|NM_153366.4" -HGNC:11480 SVIL supervillin protein-coding gene gene with protein product Approved 10p11.23 10p11.23 archvillin "Gelsolin/villins|MicroRNA protein coding host genes" "950|1691" 1998-05-07 2023-01-20 6840 ENSG00000197321 OTTHUMG00000017882 uc001iut.2 AF051851 NM_001323599 "CCDS91234|CCDS7163|CCDS7164" O95425 9382871 MGI:2147319 RGD:1306354 604126 HGNC:11480 "ENST00000355867.9|NM_021738.3" +HGNC:11480 SVIL supervillin protein-coding gene gene with protein product Approved 10p11.23 10p11.23 archvillin "Gelsolin/villins|MicroRNA protein coding host genes" "950|1691" 1998-05-07 2023-01-20 6840 ENSG00000197321 OTTHUMG00000017882 uc001iut.2 AF051851 NM_001323599 "CCDS7164|CCDS7163|CCDS91234" O95425 9382871 MGI:2147319 RGD:1306354 604126 HGNC:11480 "ENST00000355867.9|NM_021738.3" HGNC:51219 SVIL-AS1 SVIL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p11.23 10p11.23 RP11-534G20.3 Antisense RNAs 1987 2014-08-07 2016-12-21 102724316 ENSG00000224597 OTTHUMG00000017881 NR_110920 27716329 SVIL-AS1 HGNC:51219 HGNC:44959 SVIL2P supervillin family member 2, pseudogene pseudogene pseudogene Approved 10p11.23 10p11.23 SVILP1 supervillin pseudogene 1 2012-12-20 2018-05-25 2018-05-25 2018-05-25 645954 ENSG00000234814 OTTHUMG00000017900 NR_036438 PGOHUM00000261092 HGNC:44959 HGNC:25238 SVIP small VCP interacting protein protein-coding gene gene with protein product Approved 11p14.3 11p14.3 DKFZp313A2432 small VCP/p97-interacting protein 2009-03-10 2016-06-21 2023-01-20 258010 ENSG00000198168 OTTHUMG00000166072 uc001mqp.5 AF527534 NM_148893 CCDS41627 Q8NHG7 "18793143|17872946|12529442" MGI:1922994 RGD:1565432 HGNC:25238 "ENST00000354193.5|NM_148893.3" HGNC:25417 SVOP SV2 related protein protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "DKFZp761H039|SLC22B4" solute carrier family 22 member B4 SV2 related protein homolog (rat) Solute carrier family 22 2173 2006-01-04 2015-06-23 2023-03-15 55530 ENSG00000166111 OTTHUMG00000169432 uc031zmo.2 BC033587 NM_018711 CCDS73520 Q8N4V2 "9801366|19390693|21953179" MGI:1915916 RGD:620277 611699 SLC22B4 HGNC:25417 "ENST00000610966.5|NM_018711.5" -HGNC:27034 SVOPL SVOP like protein-coding gene gene with protein product Approved 7q34 07q34 "MGC46715|SLC22B5" solute carrier family 22 member B5 "SV2 related protein homolog (rat)-like|SVOP-like" Solute carrier family 22 2173 2007-01-24 2016-03-15 2023-03-15 136306 ENSG00000157703 OTTHUMG00000155870 uc011kqh.3 BC036796 NM_174959 "CCDS5848|CCDS47721" Q8N434 MGI:2444335 RGD:1566053 LRG_1103|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1103.xml 611700 SLC22B5 HGNC:27034 "ENST00000674285.1|NM_001139456.2" +HGNC:27034 SVOPL SVOP like protein-coding gene gene with protein product Approved 7q34 07q34 "MGC46715|SLC22B5" solute carrier family 22 member B5 "SV2 related protein homolog (rat)-like|SVOP-like" Solute carrier family 22 2173 2007-01-24 2016-03-15 2023-03-15 136306 ENSG00000157703 OTTHUMG00000155870 uc011kqh.3 BC036796 NM_174959 "CCDS47721|CCDS5848" Q8N434 MGI:2444335 RGD:1566053 LRG_1103|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1103.xml 611700 SLC22B5 HGNC:27034 "ENST00000674285.1|NM_001139456.2" HGNC:17070 SWAP70 switching B cell complex subunit SWAP70 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA0640|SWAP-70" switch-associated protein 70 "SWAP switching B-cell complex 70kDa subunit|SWAP switching B-cell complex subunit 70" "Pleckstrin homology domain containing|EF-hand domain containing|Minor histocompatibility antigens" "682|863|870" 2009-05-20 2017-12-06 2023-01-20 23075 ENSG00000133789 OTTHUMG00000165865 uc001mhw.4 AB014540 NM_015055 "CCDS73257|CCDS31426" Q9UH65 "9734811|10681448" MGI:1298390 RGD:1305579 604762 HGNC:17070 "ENST00000318950.11|NM_015055.4" -HGNC:31412 SWI5 SWI5 homologous recombination repair protein protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "bA395P17.9|SAE3" C9orf119 "chromosome 9 open reading frame 119|SWI5 recombination repair homolog (yeast)" 2004-04-14 2011-07-29 2015-06-30 2023-01-20 375757 ENSG00000175854 OTTHUMG00000020729 uc004bup.4 BC029911 NM_001040011 "CCDS43883|CCDS94496|CCDS83422" Q1ZZU3 "20976249|21252223" MGI:1920181 RGD:1559966 616528 HGNC:31412 "ENST00000418976.3|NM_001318089.2" +HGNC:31412 SWI5 SWI5 homologous recombination repair protein protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "bA395P17.9|SAE3" C9orf119 "chromosome 9 open reading frame 119|SWI5 recombination repair homolog (yeast)" 2004-04-14 2011-07-29 2015-06-30 2023-01-20 375757 ENSG00000175854 OTTHUMG00000020729 uc004bup.4 BC029911 NM_001040011 "CCDS83422|CCDS94496|CCDS43883" Q1ZZU3 "20976249|21252223" MGI:1920181 RGD:1559966 616528 HGNC:31412 "ENST00000418976.3|NM_001318089.2" HGNC:43709 SWINGN SWI/SNF complex interacting GAS6 enhancer non-coding RNA non-coding RNA RNA, long non-coding Approved 13q34 13q34 SWI/SNF Interacting GAS6 enhancer Noncoding RNA LINC00565 long intergenic non-protein coding RNA 565 Long non-coding RNAs with non-systematic symbols 1992 2012-01-31 2022-03-23 2022-03-23 2022-03-25 100861555 ENSG00000260910 OTTHUMG00000176086 uc031qnq.2 AK092053 NR_047495 32071317 HGNC:43709 HGNC:26638 SWSAP1 SWIM-type zinc finger 7 associated protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ35119|ZSWIM7AP1|SWS1AP1" "zinc finger, SWIM-type containing 7 associated protein 1|SWS1-associated protein 1" C19orf39 chromosome 19 open reading frame 39 CTLH complex 1561 2006-03-27 2011-11-24 2011-11-24 2023-01-20 126074 ENSG00000173928 OTTHUMG00000182025 uc002mrg.2 AK092438 NM_175871 CCDS12259 Q6NVH7 21965664 MGI:1914212 RGD:1308026 614536 HGNC:26638 "ENST00000674460.1|NM_175871.4" HGNC:16785 SWT1 SWT1 RNA endoribonuclease homolog protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "FLJ20121|HsSwt1" C1orf26 "chromosome 1 open reading frame 26|SWT1 RNA endoribonuclease homolog (S. cerevisiae)|SWT1, RNA endoribonuclease homolog" Endoribonucleases 1687 2001-10-08 2011-01-24 2019-01-25 2023-01-20 54823 ENSG00000116668 OTTHUMG00000035390 uc001grh.5 AF288392 NM_017673 CCDS1367 Q5T5J6 "11318611|19127978|23768067" MGI:1914125 RGD:1308695 619513 HGNC:16785 "ENST00000367500.9|NM_017673.7" HGNC:16273 SYAP1 synapse associated protein 1 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "FLJ14495|PRO3113" SAP47 homolog (Drosophila) 2001-07-24 2010-06-25 2023-01-20 94056 ENSG00000169895 OTTHUMG00000021192 uc004cxp.4 AF338728 NM_032796 CCDS14177 Q96A49 11483580 MGI:1914293 RGD:1303113 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYAP1 HGNC:16273 "ENST00000380155.4|NM_032796.4" -HGNC:26011 SYBU syntabulin protein-coding gene gene with protein product Approved 8q23.2 08q23.2 "FLJ20366|GOLSYN|KIAA1472|OCSYN|SNPHL" syntaphilin-like syntabulin (syntaxin-interacting) 2010-04-29 2015-11-09 2023-01-20 55638 ENSG00000147642 OTTHUMG00000165634 uc010mcv.4 AB040905 NM_017786 "CCDS43764|CCDS55271|CCDS83315|CCDS47912|CCDS43763" Q9NX95 "17611281|16750881|16157705|15656992|15459722" MGI:2442392 RGD:1564335 611568 HGNC:26011 "ENST00000276646.14|NM_001099754.2" +HGNC:26011 SYBU syntabulin protein-coding gene gene with protein product Approved 8q23.2 08q23.2 "FLJ20366|GOLSYN|KIAA1472|OCSYN|SNPHL" syntaphilin-like syntabulin (syntaxin-interacting) 2010-04-29 2015-11-09 2023-01-20 55638 ENSG00000147642 OTTHUMG00000165634 uc010mcv.4 AB040905 NM_017786 "CCDS55271|CCDS47912|CCDS43763|CCDS43764|CCDS83315" Q9NX95 "17611281|16750881|16157705|15656992|15459722" MGI:2442392 RGD:1564335 611568 HGNC:26011 "ENST00000276646.14|NM_001099754.2" HGNC:55741 SYBU-AS1 SYBU antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q23.2 08q23.2 AC079061.1 Antisense RNAs 1987 2021-07-20 2022-10-13 100132813 ENSG00000248050 NR_161375 36038907 HGNC:28852 SYCE1 synaptonemal complex central element protein 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "bA108K14.6|CT76" cancer/testis antigen 76 C10orf94 chromosome 10 open reading frame 94 2004-03-16 2005-09-27 2005-09-27 2023-03-15 93426 ENSG00000171772 OTTHUMG00000019321 uc057xak.1 AY027808 NM_201564 "CCDS44500|CCDS7687" Q8N0S2 11829491 MGI:1921325 RGD:1559853 611486 413863 HGNC:28852 "ENST00000343131.7|NM_001143764.3" HGNC:28852 HGNC:37236 SYCE1L synaptonemal complex central element protein 1 like protein-coding gene gene with protein product Approved 16q23.1 16q23.1 MRP2 meiosis-related protein synaptonemal complex central element protein 1-like 2009-10-06 2016-03-22 2023-01-20 100130958 ENSG00000205078 OTTHUMG00000176809 uc010vnh.2 NM_001129979 CCDS45533 A8MT33 16328886 MGI:1922247 RGD:2320134 619954 HGNC:37236 "ENST00000378644.5|NM_001129979.3" @@ -37951,35 +37954,35 @@ HGNC:11487 SYCP1 synaptonemal complex protein 1 protein-coding gene gene with pr HGNC:11490 SYCP2 synaptonemal complex protein 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 SCP2 1999-07-21 2023-01-20 10388 ENSG00000196074 OTTHUMG00000032872 uc002yaz.4 Y08982 NM_014258 CCDS13482 Q9BX26 "10341103|9592139" MGI:1933281 RGD:69429 604105 HGNC:11490 "ENST00000357552.8|NM_014258.4" HGNC:21537 SYCP2L synaptonemal complex protein 2 like protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "dJ62D2.1|NO145" C6orf177 "chromosome 6 open reading frame 177|synaptonemal complex protein 2-like" 2003-11-26 2007-07-02 2015-11-23 2023-01-20 221711 ENSG00000153157 OTTHUMG00000014250 uc003mzo.4 AK128130 NM_194299 CCDS43423 Q5T4T6 MGI:2685114 RGD:1564922 616799 HGNC:21537 "ENST00000283141.11|NM_001040274.3" HGNC:18130 SYCP3 synaptonemal complex protein 3 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 2002-02-05 2023-01-20 50511 ENSG00000139351 OTTHUMG00000150132 uc001tiq.4 "AF492003|AI075991" NM_153694 CCDS9087 Q8IZU3 "12213195|10854409" MGI:109542 RGD:3795 604759 448829 HGNC:18130 "ENST00000392924.2|NM_001177949.2" -HGNC:25824 SYDE1 synapse defective Rho GTPase homolog 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "7h3|FLJ13511|SYD1" synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 2005-05-31 2016-04-29 2023-01-20 85360 ENSG00000105137 OTTHUMG00000183207 uc002nah.2 BC029926 NM_033025 "CCDS74299|CCDS12324" Q6ZW31 23791195 MGI:1918959 RGD:1305857 617377 HGNC:25824 "ENST00000342784.7|NM_033025.6" +HGNC:25824 SYDE1 synapse defective Rho GTPase homolog 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "7h3|FLJ13511|SYD1" synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 2005-05-31 2016-04-29 2023-01-20 85360 ENSG00000105137 OTTHUMG00000183207 uc002nah.2 BC029926 NM_033025 "CCDS12324|CCDS74299" Q6ZW31 23791195 MGI:1918959 RGD:1305857 617377 HGNC:25824 "ENST00000342784.7|NM_033025.6" HGNC:25841 SYDE2 synapse defective Rho GTPase homolog 2 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 FLJ13815 synapse defective 1, Rho GTPase, homolog 2 (C. elegans) C2 domain containing 823 2005-05-31 2005-08-09 2016-04-29 2023-01-20 84144 ENSG00000097096 OTTHUMG00000009956 uc009wcm.4 AL834286 NM_032184 CCDS44169 Q5VT97 MGI:3036264 RGD:1564206 HGNC:25841 "ENST00000341460.6|NM_032184.2" HGNC:25841 -HGNC:19824 SYF2 SYF2 pre-mRNA splicing factor protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "p29|DKFZp564O2082|NTC31|fSAP29" functional spliceosome-associated protein 29 CBPIN "CCNDBP1 interactor|SYF2 homolog, RNA splicing factor (S. cerevisiae)" "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2005-05-06 2005-09-14 2016-03-11 2023-01-20 25949 ENSG00000117614 OTTHUMG00000043610 uc001bjt.2 AF273089 NM_015484 "CCDS258|CCDS259" O95926 11118353 MGI:1915842 RGD:621592 607090 HGNC:19824 "ENST00000236273.9|NM_015484.5" +HGNC:19824 SYF2 SYF2 pre-mRNA splicing factor protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "p29|DKFZp564O2082|NTC31|fSAP29" functional spliceosome-associated protein 29 CBPIN "CCNDBP1 interactor|SYF2 homolog, RNA splicing factor (S. cerevisiae)" "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2005-05-06 2005-09-14 2016-03-11 2023-01-20 25949 ENSG00000117614 OTTHUMG00000043610 uc001bjt.2 AF273089 NM_015484 "CCDS259|CCDS258" O95926 11118353 MGI:1915842 RGD:621592 607090 HGNC:19824 "ENST00000236273.9|NM_015484.5" HGNC:19925 SYF2P1 SYF2 pre-mRNA splicing factor pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 "CBPINP|SYF2P" "CCNDBP1 interactor pseudogene|SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene|SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene 1" 2003-01-13 2010-04-20 2016-03-11 2016-03-11 317778 ENSG00000258350 OTTHUMG00000170511 AL117355 NG_002474 PGOHUM00000292308 HGNC:19925 HGNC:38139 SYF2P2 SYF2 pre-mRNA splicing factor pseudogene 2 pseudogene pseudogene Approved 9p13.3 09p13.3 SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene 2 2010-04-20 2016-03-11 2016-10-05 100128275 ENSG00000233148 OTTHUMG00000019845 NG_021644 PGOHUM00000236447 HGNC:38139 -HGNC:11491 SYK spleen associated tyrosine kinase protein-coding gene gene with protein product Approved 9q22.2 09q22.2 spleen tyrosine kinase "SH2 domain containing|Syk family tyrosine kinases" "741|1464" 1994-12-13 2016-06-15 2023-01-20 6850 ENSG00000165025 OTTHUMG00000020200 uc004aqz.4 L28824 NM_001135052 "CCDS6688|CCDS47992" P43405 "8082894|1423621" MGI:99515 RGD:3796 SYK 600085 objectId:2230 HGNC:11491 "ENST00000375754.9|NM_003177.7" +HGNC:11491 SYK spleen associated tyrosine kinase protein-coding gene gene with protein product Approved 9q22.2 09q22.2 spleen tyrosine kinase "SH2 domain containing|Syk family tyrosine kinases" "741|1464" 1994-12-13 2016-06-15 2023-01-20 6850 ENSG00000165025 OTTHUMG00000020200 uc004aqz.4 L28824 NM_001135052 "CCDS47992|CCDS6688" P43405 "8082894|1423621" MGI:99515 RGD:3796 SYK 600085 objectId:2230 HGNC:11491 "ENST00000375754.9|NM_003177.7" HGNC:22935 SYMPK symplekin scaffold protein protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "SYM|SPK|Pta1" symplekin Armadillo like helical domain containing 1492 2003-07-24 2021-09-10 2023-01-20 8189 ENSG00000125755 OTTHUMG00000150151 uc002pdn.4 U49240 NM_004819 CCDS12676 Q92797 "8769423|9330635" MGI:1915438 RGD:1306735 602388 HGNC:22935 "ENST00000245934.12|NM_004819.3" -HGNC:11494 SYN1 synapsin I protein-coding gene gene with protein product Approved Xp11.3-p11.23 Xp11.3-p11.23 Synapsin-1 MRX50 mental retardation, X-linked 50 Synapsins 1325 2001-06-22 2023-01-20 6853 ENSG00000008056 OTTHUMG00000021454 uc004die.4 NM_006950 "CCDS14280|CCDS35233" P17600 28973667 MGI:98460 RGD:3797 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYN1 313440 119906 HGNC:11494 "ENST00000295987.13|NM_006950.3" HGNC:11494 -HGNC:11495 SYN2 synapsin II protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "SYNII|SYNIIa|SYNIIb" Synapsin-2 Synapsins 1325 1990-01-15 2023-01-20 6854 ENSG00000157152 OTTHUMG00000155335 uc032rek.2 NM_133625 "CCDS74900|CCDS74901" Q92777 8530057 MGI:103020 RGD:3798 600755 HGNC:11495 "ENST00000621198.5|NM_133625.6" +HGNC:11494 SYN1 synapsin I protein-coding gene gene with protein product Approved Xp11.3-p11.23 Xp11.3-p11.23 Synapsin-1 MRX50 mental retardation, X-linked 50 Synapsins 1325 2001-06-22 2023-01-20 6853 ENSG00000008056 OTTHUMG00000021454 uc004die.4 NM_006950 "CCDS35233|CCDS14280" P17600 28973667 MGI:98460 RGD:3797 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYN1 313440 119906 HGNC:11494 "ENST00000295987.13|NM_006950.3" HGNC:11494 +HGNC:11495 SYN2 synapsin II protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "SYNII|SYNIIa|SYNIIb" Synapsin-2 Synapsins 1325 1990-01-15 2023-01-20 6854 ENSG00000157152 OTTHUMG00000155335 uc032rek.2 NM_133625 "CCDS74901|CCDS74900" Q92777 8530057 MGI:103020 RGD:3798 600755 HGNC:11495 "ENST00000621198.5|NM_133625.6" HGNC:11496 SYN3 synapsin III protein-coding gene gene with protein product Approved 22q12.3 22q12.3 Synapsin-3 Synapsins 1325 1998-10-14 2023-03-15 8224 ENSG00000185666 OTTHUMG00000031004 uc003amx.4 AF046873 NM_001135774 CCDS13908 O14994 9539796 MGI:1351334 RGD:3799 602705 HGNC:11496 "ENST00000358763.7|NM_003490.4" HGNC:40569 SYN3-AS1 SYN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Antisense RNAs 1987 2020-03-27 2020-03-27 105373004 ENSG00000236054 OTTHUMG00000058269 XR_001755501 HGNC:28897 SYNC syncoilin, intermediate filament protein protein-coding gene gene with protein product Approved 1p35.1 01p35.1 SYNCOILIN SYNC1 syncoilin, intermediate filament 1 Intermediate filaments Type III 610 2005-02-09 2008-09-19 2008-09-19 2023-01-20 81493 ENSG00000162520 OTTHUMG00000008087 uc001bvt.3 AK024707 NM_030786 "CCDS53294|CCDS367" Q9H7C4 11053421 MGI:1916078 RGD:1307970 611750 HGNC:28897 "ENST00000409190.8|NM_030786.3" -HGNC:16918 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein protein-coding gene gene with protein product Approved 6q14.3 06q14.3 "NSAP1|GRY-RBP|dJ3J17.2|HNRPQ1|hnRNP-Q|HNRNPQ" heterogeneous nuclear ribonucleoprotein Q "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2003-11-27 2016-04-06 2023-01-20 10492 ENSG00000135316 OTTHUMG00000015141 uc003pla.3 AF037448 NM_006372 "CCDS5005|CCDS75491|CCDS93965|CCDS93966|CCDS93967|CCDS55041" O60506 "9847309|11352648" MGI:1891690 RGD:1305683 616686 471176 HGNC:16918 "ENST00000369622.8|NM_006372.5" -HGNC:15885 SYNDIG1 synapse differentiation inducing 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "FLJ14220|IFITMD5|DSPC2" "interferon induced transmembrane protein domain containing 5|synapse differentiation induced gene 1|dispanin subfamily C member 2" "C20orf39|TMEM90B" "chromosome 20 open reading frame 39|transmembrane protein 90B" interferon induced transmembrane protein domain containing 1600 2001-06-21 2011-06-30 2011-06-30 2023-01-20 79953 ENSG00000101463 OTTHUMG00000032104 uc002wtw.3 AK024282 NM_024893 CCDS13164 Q9H7V2 20152115 MGI:3702158 RGD:1310753 614311 HGNC:15885 "ENST00000376862.4|NM_024893.3" HGNC:15885 -HGNC:32388 SYNDIG1L synapse differentiation inducing 1 like protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "capucin|IFITMD4|DSPC1" "caudate-and putamen-enriched sequence|interferon induced transmembrane protein domain containing 4|dispanin subfamily C member 1" TMEM90A transmembrane protein 90A interferon induced transmembrane protein domain containing 1600 2006-03-20 2011-06-30 2016-01-19 2023-01-20 646658 ENSG00000183379 OTTHUMG00000171210 uc001xpx.2 NM_001105579 CCDS41970 A6NDD5 16359841 MGI:2685107 RGD:1589004 609999 HGNC:32388 "ENST00000331628.8|NM_001105579.2" +HGNC:16918 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein protein-coding gene gene with protein product Approved 6q14.3 06q14.3 "NSAP1|GRY-RBP|dJ3J17.2|HNRPQ1|hnRNP-Q|HNRNPQ" heterogeneous nuclear ribonucleoprotein Q "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2003-11-27 2016-04-06 2023-01-20 10492 ENSG00000135316 OTTHUMG00000015141 uc003pla.3 AF037448 NM_006372 "CCDS75491|CCDS93966|CCDS5005|CCDS55041|CCDS93965|CCDS93967" O60506 "9847309|11352648" MGI:1891690 RGD:1305683 616686 471176 HGNC:16918 "ENST00000369622.8|NM_006372.5" +HGNC:15885 SYNDIG1 synapse differentiation inducing 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "FLJ14220|IFITMD5|DSPC2" "interferon induced transmembrane protein domain containing 5|synapse differentiation induced gene 1|dispanin subfamily C member 2" "C20orf39|TMEM90B" "chromosome 20 open reading frame 39|transmembrane protein 90B" Dispanins 1600 2001-06-21 2011-06-30 2011-06-30 2023-01-20 79953 ENSG00000101463 OTTHUMG00000032104 uc002wtw.3 AK024282 NM_024893 CCDS13164 Q9H7V2 20152115 MGI:3702158 RGD:1310753 614311 HGNC:15885 "ENST00000376862.4|NM_024893.3" HGNC:15885 +HGNC:32388 SYNDIG1L synapse differentiation inducing 1 like protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "capucin|IFITMD4|DSPC1" "caudate-and putamen-enriched sequence|interferon induced transmembrane protein domain containing 4|dispanin subfamily C member 1" TMEM90A transmembrane protein 90A Dispanins 1600 2006-03-20 2011-06-30 2016-01-19 2023-01-20 646658 ENSG00000183379 OTTHUMG00000171210 uc001xpx.2 NM_001105579 CCDS41970 A6NDD5 16359841 MGI:2685107 RGD:1589004 609999 HGNC:32388 "ENST00000331628.8|NM_001105579.2" HGNC:17089 SYNE1 spectrin repeat containing nuclear envelope protein 1 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "SYNE-1B|KIAA0796|8B|Nesprin-1|enaptin|MYNE1|CPG2|dJ45H2.2|SCAR8|ARCA1|Nesp1" "myocyte nuclear envelope protein 1|nuclear envelope spectrin repeat-1" C6orf98 "chromosome 6 open reading frame 98|spectrin repeat containing, nuclear envelope 1" "Spectrin repeat containing nuclear envelope family|KASH domain containing" "1252|2010" 2003-02-19 2016-04-29 2023-03-15 23345 ENSG00000131018 OTTHUMG00000015841 uc003qou.4 AB018339 NM_182961 "CCDS87458|CCDS5236|CCDS94022" Q8NF91 "9872452|10878022" MGI:1927152 RGD:620546 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SYNE1|LRG_427|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_427.xml" 608441 159219 HGNC:17089 "ENST00000367255.10|NM_182961.4" HGNC:17089 HGNC:40793 SYNE1-AS1 SYNE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.2 06q25.2 SYNE1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-31 2012-08-15 2014-11-19 100505475 ENSG00000234577 OTTHUMG00000015843 uc063sin.1 "CK821189|BI962584|BX107936" NR_120501 SYNE1-AS1 HGNC:40793 -HGNC:17084 SYNE2 spectrin repeat containing nuclear envelope protein 2 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "SYNE-2|DKFZP434H2235|Nesprin-2|NUANCE|NUA|KIAA1011|Nesp2" "nuclear envelope spectrin repeat-2|nucleus and actin connecting element" spectrin repeat containing, nuclear envelope 2 "Spectrin repeat containing nuclear envelope family|KASH domain containing" "1252|2010" 2003-02-19 2016-04-29 2023-03-15 23224 ENSG00000054654 OTTHUMG00000140349 uc001xgl.5 AB023228 NM_182914 "CCDS45124|CCDS9761|CCDS41963" Q8WXH0 "10231032|10878022" MGI:2449316 RGD:1305248 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SYNE2|LRG_872|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_872.xml" 608442 209271 HGNC:17084 "ENST00000555002.6|NM_182914.3" HGNC:17084 -HGNC:19861 SYNE3 spectrin repeat containing nuclear envelope family member 3 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "FLJ25605|NET53|Nesprin-3|Nesp3" "C14orf49|LINC00341|C14orf139|NCRNA00341" "chromosome 14 open reading frame 49|long intergenic non-protein coding RNA 341|chromosome 14 open reading frame 139|non-protein coding RNA 341" "Spectrin repeat containing nuclear envelope family|KASH domain containing" "1252|2010" 2002-11-27 2012-05-31 2016-04-29 2023-01-20 161176 ENSG00000176438 OTTHUMG00000171632 uc001yei.4 AK098471 NM_152592 "CCDS9935|CCDS86430|CCDS91927" Q6ZMZ3 MGI:2442408 RGD:1304563 610861 HGNC:19861 "ENST00000682763.1|NM_152592.6" +HGNC:17084 SYNE2 spectrin repeat containing nuclear envelope protein 2 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "SYNE-2|DKFZP434H2235|Nesprin-2|NUANCE|NUA|KIAA1011|Nesp2" "nuclear envelope spectrin repeat-2|nucleus and actin connecting element" spectrin repeat containing, nuclear envelope 2 "Spectrin repeat containing nuclear envelope family|KASH domain containing" "1252|2010" 2003-02-19 2016-04-29 2023-03-15 23224 ENSG00000054654 OTTHUMG00000140349 uc001xgl.5 AB023228 NM_182914 "CCDS45124|CCDS41963|CCDS9761" Q8WXH0 "10231032|10878022" MGI:2449316 RGD:1305248 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SYNE2|LRG_872|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_872.xml" 608442 209271 HGNC:17084 "ENST00000555002.6|NM_182914.3" HGNC:17084 +HGNC:19861 SYNE3 spectrin repeat containing nuclear envelope family member 3 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "FLJ25605|NET53|Nesprin-3|Nesp3" "C14orf49|LINC00341|C14orf139|NCRNA00341" "chromosome 14 open reading frame 49|long intergenic non-protein coding RNA 341|chromosome 14 open reading frame 139|non-protein coding RNA 341" "Spectrin repeat containing nuclear envelope family|KASH domain containing" "1252|2010" 2002-11-27 2012-05-31 2016-04-29 2023-01-20 161176 ENSG00000176438 OTTHUMG00000171632 uc001yei.4 AK098471 NM_152592 "CCDS91927|CCDS9935|CCDS86430" Q6ZMZ3 MGI:2442408 RGD:1304563 610861 HGNC:19861 "ENST00000682763.1|NM_152592.6" HGNC:26703 SYNE4 spectrin repeat containing nuclear envelope family member 4 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ36445|Nesprin-4|Nesp4" "C19orf46|DFNB76" "chromosome 19 open reading frame 46|deafness, autosomal recessive 76" "Spectrin repeat containing nuclear envelope family|KASH domain containing" "1252|2010" 2006-07-12 2012-05-31 2016-04-29 2023-03-15 163183 ENSG00000181392 OTTHUMG00000048135 uc002ocq.2 BC038360 NM_001039876 "CCDS42553|CCDS77285" Q8N205 23348741 MGI:2141950 RGD:1304580 LRG_1385|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1385.xml 615535 328743 HGNC:26703 "ENST00000324444.9|NM_001039876.3" HGNC:26703 HGNC:11497 SYNGAP1 synaptic Ras GTPase activating protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "SYNGAP|RASA5|KIAA1938" synaptic Ras GTPase activating protein 1 homolog (rat) "C2 and RasGAP domain containing|MicroRNA protein coding host genes" "830|1691" 1999-12-08 2010-06-25 2023-01-20 8831 ENSG00000197283 OTTHUMG00000031096 uc011dri.3 AB067525 NM_006772 "CCDS93894|CCDS34434" Q96PV0 "9581761|18323856" MGI:3039785 RGD:621090 LRG_1193|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1193.xml 603384 188809 HGNC:11497 "ENST00000646630.1|NM_006772.3" HGNC:11497 HGNC:53831 SYNGAP1-AS1 SYNGAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 SYNGAP1-AS Antisense RNAs 1987 2018-03-28 2018-03-28 112390310 ENSG00000274259 NR_174954 24007600 -HGNC:11498 SYNGR1 synaptogyrin 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Synaptogyrins 1475 1999-03-19 2023-01-20 9145 ENSG00000100321 OTTHUMG00000030978 uc003axq.5 AJ002303 NM_004711 "CCDS13991|CCDS13989|CCDS13990" O43759 "9760194|10595519" MGI:1328323 RGD:3801 603925 HGNC:11498 "ENST00000328933.10|NM_004711.5" HGNC:11498 +HGNC:11498 SYNGR1 synaptogyrin 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Synaptogyrins 1475 1999-03-19 2023-01-20 9145 ENSG00000100321 OTTHUMG00000030978 uc003axq.5 AJ002303 NM_004711 "CCDS13990|CCDS13991|CCDS13989" O43759 "9760194|10595519" MGI:1328323 RGD:3801 603925 HGNC:11498 "ENST00000328933.10|NM_004711.5" HGNC:11498 HGNC:11499 SYNGR2 synaptogyrin 2 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 cellugyrin Synaptogyrins 1475 1999-03-19 2023-01-20 9144 ENSG00000108639 OTTHUMG00000177457 uc002juu.2 AJ002308 NM_001320523 "CCDS86641|CCDS11753" O43760 9760194 MGI:1328324 RGD:621334 603926 HGNC:11499 "ENST00000225777.8|NM_004710.7" HGNC:11500 SYNGR2P1 synaptogyrin 2 pseudogene 1 pseudogene pseudogene Approved 15q13.2 15q13.2 SYNGR2P synaptogyrin 2 pseudogene 1999-03-19 2008-01-23 2008-01-23 2020-04-06 283698 ENSG00000260174 OTTHUMG00000175634 AJ002313 NG_003218 9760194 PGOHUM00000293163 HGNC:11500 HGNC:33947 SYNGR2P2 synaptogyrin 2 pseudogene 2 pseudogene pseudogene Approved 9q21.2 09q21.2 2008-01-23 2008-01-23 138916 NG_001541 HGNC:33947 HGNC:11501 SYNGR3 synaptogyrin 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Synaptogyrins 1475 1999-03-19 2023-01-20 9143 ENSG00000127561 OTTHUMG00000128711 uc002cod.3 AJ002309 NM_004209 CCDS10456 O43761 9760194 MGI:1341881 RGD:1311801 603927 HGNC:11501 "ENST00000248121.7|NM_004209.6" HGNC:11502 SYNGR4 synaptogyrin 4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Synaptogyrins 1475 1999-11-26 2023-01-20 23546 ENSG00000105467 OTTHUMG00000183214 uc002piz.4 AJ011733 NM_012451 CCDS12717 O95473 MGI:1928903 RGD:1307737 608373 HGNC:11502 "ENST00000344846.7|NM_012451.4" -HGNC:11503 SYNJ1 synaptojanin 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "INPP5G|PARK20" "phosphoinositide 5-phosphatase|synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1|inositol polyphosphate-5-phosphatase G" Phosphoinositide phosphatases 1079 1999-10-14 2023-01-20 8867 ENSG00000159082 OTTHUMG00000064926 uc002yqh.3 AF009040 NM_003895 "CCDS54484|CCDS33539|CCDS33540|CCDS54483" O43426 "9428629|10773674|24609975|14704270" MGI:1354961 RGD:69434 604297 394615 objectId:1461 3.1.3.36 HGNC:11503 "ENST00000674351.1|NM_203446.3" HGNC:11503 +HGNC:11503 SYNJ1 synaptojanin 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "INPP5G|PARK20" "phosphoinositide 5-phosphatase|synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1|inositol polyphosphate-5-phosphatase G" Phosphoinositide phosphatases 1079 1999-10-14 2023-01-20 8867 ENSG00000159082 OTTHUMG00000064926 uc002yqh.3 AF009040 NM_003895 "CCDS54483|CCDS33539|CCDS33540|CCDS54484" O43426 "9428629|10773674|24609975|14704270" MGI:1354961 RGD:69434 604297 394615 objectId:1461 3.1.3.36 HGNC:11503 "ENST00000674351.1|NM_203446.3" HGNC:11503 HGNC:11504 SYNJ2 synaptojanin 2 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 INPP5H "synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2|phosphoinositide 5-phosphatase|inositol polyphosphate-5-phosphatase H" Phosphoinositide phosphatases 1079 1999-10-14 2023-01-20 8871 ENSG00000078269 OTTHUMG00000015904 uc003qqx.3 AB002346 NM_003898 "CCDS5254|CCDS94025|CCDS87462" O15056 23076136 MGI:1201671 RGD:69436 609410 objectId:1462 3.1.3.36 HGNC:11504 "ENST00000355585.9|NM_003898.4" HGNC:41387 SYNJ2-IT1 SYNJ2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 SYNJ2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 100874300 ENSG00000233496 OTTHUMG00000015901 uc031sqq.1 NR_046796 SYNJ2-IT1 HGNC:41387 HGNC:18955 SYNJ2BP synaptojanin 2 binding protein protein-coding gene gene with protein product Approved 14q24.2 14q24.2 Arip2 activin receptor interacting protein 5 PDZ domain containing 1220 2002-07-19 2023-01-20 55333 ENSG00000213463 OTTHUMG00000171240 uc001xmc.5 AK002133 NM_018373 CCDS9803 P57105 11882656 MGI:1344347 RGD:69400 609411 HGNC:18955 "ENST00000256366.6|NM_018373.3" @@ -37987,13 +37990,13 @@ HGNC:48350 SYNJ2BP-COX16 SYNJ2BP-COX16 readthrough other readthrough Approved 14 HGNC:24466 SYNM synemin protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "KIAA0353|SYN" "synemin alpha|synemin beta" DMN "desmuslin|synemin, intermediate filament protein" "A-kinase anchoring proteins|Intermediate filaments Type IV" "396|611" 2004-02-24 2008-09-19 2015-11-24 2023-01-20 23336 ENSG00000182253 OTTHUMG00000171887 uc032crv.2 AK026420 NM_145728 "CCDS73787|CCDS73786" O15061 "11737198|11454237" MGI:2661187 RGD:727872 LRG_415|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_415.xml 606087 HGNC:24466 "ENST00000336292.11|NM_145728.3" HGNC:55421 SYNM-AS1 SYNM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Antisense RNAs 1987 2021-01-07 2021-01-07 105371016 ENSG00000259475 XR_001751810 HGNC:56228 SYNM-AS2 SYNM antisense RNA 2 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 TP53LC11 Antisense RNAs 1987 2022-04-20 2023-02-22 125177379 ENSG00000261054 35609991 -HGNC:30672 SYNPO synaptopodin protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "KIAA1029|SYNPO1" 2004-01-12 2023-05-11 11346 ENSG00000171992 OTTHUMG00000130078 uc003lsp.4 AF499137 NM_007286 "CCDS4308|CCDS54937|CCDS54938" Q8N3V7 "9314539|10470851" MGI:1099446 RGD:620668 608155 HGNC:30672 "ENST00000307662.5|NM_007286.6" -HGNC:17732 SYNPO2 synaptopodin 2 protein-coding gene gene with protein product Approved 4q26 04q26 "MYOPODIN|SYISL" SYNPO2 intron sense-overlapping lncRNA PDZ domain containing 1220 2002-03-06 2023-01-20 171024 ENSG00000172403 OTTHUMG00000161165 uc010inb.3 AJ010482 NM_001128933 "CCDS75185|CCDS47128|CCDS93613|CCDS75186|CCDS34054|CCDS47129" Q9UMS6 "11673475|17828378" MGI:2153070 RGD:1564779 HGNC:17732 "ENST00000307142.9|NM_133477.3" -HGNC:23532 SYNPO2L synaptopodin 2 like protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ12921 synaptopodin 2-like PDZ domain containing 1220 2003-11-21 2016-02-01 2023-01-20 79933 ENSG00000166317 OTTHUMG00000018471 uc001jut.6 AK022983 NM_024875 "CCDS44438|CCDS7331" Q9H987 MGI:1916010 RGD:1565434 HGNC:23532 "ENST00000394810.3|NM_001114133.3" +HGNC:30672 SYNPO synaptopodin protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "KIAA1029|SYNPO1" 2004-01-12 2023-05-11 11346 ENSG00000171992 OTTHUMG00000130078 uc003lsp.4 AF499137 NM_007286 "CCDS54938|CCDS54937|CCDS4308" Q8N3V7 "9314539|10470851" MGI:1099446 RGD:620668 608155 HGNC:30672 "ENST00000307662.5|NM_007286.6" +HGNC:17732 SYNPO2 synaptopodin 2 protein-coding gene gene with protein product Approved 4q26 04q26 "MYOPODIN|SYISL" SYNPO2 intron sense-overlapping lncRNA PDZ domain containing 1220 2002-03-06 2023-01-20 171024 ENSG00000172403 OTTHUMG00000161165 uc010inb.3 AJ010482 NM_001128933 "CCDS75186|CCDS47128|CCDS93613|CCDS47129|CCDS75185|CCDS34054" Q9UMS6 "11673475|17828378" MGI:2153070 RGD:1564779 HGNC:17732 "ENST00000307142.9|NM_133477.3" +HGNC:23532 SYNPO2L synaptopodin 2 like protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ12921 synaptopodin 2-like PDZ domain containing 1220 2003-11-21 2016-02-01 2023-01-20 79933 ENSG00000166317 OTTHUMG00000018471 uc001jut.6 AK022983 NM_024875 "CCDS7331|CCDS44438" Q9H987 MGI:1916010 RGD:1565434 HGNC:23532 "ENST00000394810.3|NM_001114133.3" HGNC:55242 SYNPO2L-AS1 SYNPO2L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 Antisense RNAs 1987 2020-09-17 2020-09-17 105378360 ENSG00000271848 XR_946063 HGNC:16507 SYNPR synaptoporin protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "MGC26651|SPO" "Synaptophysins|MARVEL domain containing" "1476|1626" 2001-09-10 2023-01-20 132204 ENSG00000163630 OTTHUMG00000158699 uc003dlp.4 AF411860 NM_001130003 "CCDS46860|CCDS46859" Q8TBG9 "8034131|12974474" MGI:1919253 RGD:708366 HGNC:16507 "ENST00000478300.6|NM_001130003.2" HGNC:40774 SYNPR-AS1 SYNPR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.2 03p14.2 SYNPR antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874016 ENSG00000241359 OTTHUMG00000158700 uc031sai.1 NR_046677 SYNPR-AS1 HGNC:40774 -HGNC:557 SYNRG synergin gamma protein-coding gene gene with protein product Approved 17q12 17q12 "SYNG|MGC104959" "gamma-synergin|adaptor-related protein complex 1 gamma subunit-binding protein 1" AP1GBP1 AP1 gamma subunit binding protein 1 2000-03-24 2009-07-20 2016-08-09 2023-01-20 11276 ENSG00000275066 OTTHUMG00000188473 uc032gic.3 AF169548 NM_007247 "CCDS11321|CCDS59284|CCDS54113|CCDS54114|CCDS59285|CCDS11322" Q9UMZ2 10477754 MGI:1354742 RGD:620684 607291 HGNC:557 "ENST00000612223.5|NM_007247.6" +HGNC:557 SYNRG synergin gamma protein-coding gene gene with protein product Approved 17q12 17q12 "SYNG|MGC104959" "gamma-synergin|adaptor-related protein complex 1 gamma subunit-binding protein 1" AP1GBP1 AP1 gamma subunit binding protein 1 2000-03-24 2009-07-20 2016-08-09 2023-01-20 11276 ENSG00000275066 OTTHUMG00000188473 uc032gic.3 AF169548 NM_007247 "CCDS54113|CCDS11321|CCDS11322|CCDS59284|CCDS59285|CCDS54114" Q9UMZ2 10477754 MGI:1354742 RGD:620684 607291 HGNC:557 "ENST00000612223.5|NM_007247.6" HGNC:11506 SYP synaptophysin protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 MRX96 "Synaptophysins|MARVEL domain containing" "1476|1626" 1990-01-15 2023-01-20 6855 ENSG00000102003 OTTHUMG00000034557 uc004dmz.2 X06389 NM_003179 CCDS14321 P08247 "3120152|19377476" MGI:98467 RGD:3802 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYP 313475 226044 HGNC:11506 "ENST00000263233.9|NM_003179.3" HGNC:11506 HGNC:40571 SYP-AS1 SYP antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 SYP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873921 ENSG00000237341 OTTHUMG00000024133 uc033edc.2 NR_046649 SYP-AS1 HGNC:40571 HGNC:11507 SYPL1 synaptophysin like 1 protein-coding gene gene with protein product Approved 7q22.2 07q22.2 pantophysin SYPL "synaptophysin-like protein|synaptophysin-like 1" "Synaptophysins|MARVEL domain containing" "1476|1626" 1994-04-28 2005-05-24 2016-03-15 2023-01-20 6856 ENSG00000008282 OTTHUMG00000157587 uc003vdp.5 NM_001381910 Q16563 MGI:108081 RGD:1359569 616665 HGNC:11507 "ENST00000455385.7|NM_182715.4" @@ -38002,33 +38005,33 @@ HGNC:53547 SYPL1P2 synaptophysin like 1 pseudogene 2 pseudogene pseudogene Appro HGNC:27638 SYPL2 synaptophysin like 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 Mg29 mitsugumin-29 synaptophysin-like 2 "Synaptophysins|MARVEL domain containing" "1476|1626" 2005-06-06 2016-03-15 2023-01-20 284612 ENSG00000143028 OTTHUMG00000010969 uc001dxp.4 AK131459 NM_001006603 CCDS41365 Q5VXT5 12975309 MGI:1328311 RGD:1309907 HGNC:27638 "ENST00000369872.4|NM_001040709.2" HGNC:16162 SYS1 SYS1 golgi trafficking protein protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ453C12.4 C20orf169 "chromosome 20 open reading frame 169|SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)|Sys1 golgi trafficking protein" 2001-07-17 2006-11-06 2019-01-21 2023-01-20 90196 ENSG00000204070 OTTHUMG00000032579 uc002xnv.4 AL021578 NM_033542 "CCDS13351|CCDS56192" Q8N2H4 15077113 MGI:1913710 RGD:1583224 612979 HGNC:16162 "ENST00000243918.10|NM_033542.4" HGNC:33535 SYS1-DBNDD2 SYS1-DBNDD2 readthrough (NMD candidate) other readthrough Approved 20q13.12 20q13.12 SYS1-DBNDD2 readthrough (non-protein coding) 2011-05-31 2013-05-09 2014-11-19 767557 ENSG00000254806 OTTHUMG00000166214 uc061xhp.1 BC023562 NR_003189 HGNC:33535 -HGNC:11509 SYT1 synaptotagmin 1 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 P65 "SYT|SVP65" synaptotagmin I "Synaptotagmins|MicroRNA protein coding host genes" "765|1691" 1990-03-14 2015-11-20 2023-01-20 6857 ENSG00000067715 OTTHUMG00000134326 uc001syt.4 NM_005639 "CCDS9017|CCDS76582" P21579 1840599 MGI:99667 RGD:3803 185605 471178 HGNC:11509 "ENST00000261205.9|NM_005639.3" HGNC:11509 +HGNC:11509 SYT1 synaptotagmin 1 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 P65 "SYT|SVP65" synaptotagmin I "Synaptotagmins|MicroRNA protein coding host genes" "765|1691" 1990-03-14 2015-11-20 2023-01-20 6857 ENSG00000067715 OTTHUMG00000134326 uc001syt.4 NM_005639 "CCDS76582|CCDS9017" P21579 1840599 MGI:99667 RGD:3803 185605 471178 HGNC:11509 "ENST00000261205.9|NM_005639.3" HGNC:11509 HGNC:11510 SYT2 synaptotagmin 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 synaptotagmin II Synaptotagmins 765 1995-09-27 2015-11-20 2023-01-20 127833 ENSG00000143858 OTTHUMG00000041388 uc010pqb.3 AK090672 NM_177402 CCDS1427 Q8N9I0 7749232 MGI:99666 RGD:3804 600104 444681 HGNC:11510 "ENST00000367268.5|NM_177402.5" HGNC:11510 HGNC:40572 SYT2-AS1 SYT2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 RP11-569A11.1 Antisense RNAs 1987 2023-02-24 2023-02-24 129810494 ENSG00000226862 OTTHUMG00000041394 33942366 HGNC:11511 SYT3 synaptotagmin 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 synaptotagmin III Synaptotagmins 765 1995-09-27 2015-11-20 2023-01-20 84258 ENSG00000213023 OTTHUMG00000183064 uc061brv.1 AL136594 NM_032298 CCDS12798 Q9BQG1 7749232 MGI:99665 RGD:3805 600327 HGNC:11511 "ENST00000600079.6|NM_001160329.2" HGNC:11512 SYT4 synaptotagmin 4 protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "KIAA1342|HsT1192" synaptotagmin IV Synaptotagmins 765 1995-09-27 2015-11-20 2023-01-20 6860 ENSG00000132872 OTTHUMG00000132610 uc002law.4 BC036538 NM_020783 CCDS11922 Q9H2B2 8058779 MGI:101759 RGD:68397 600103 HGNC:11512 "ENST00000255224.8|NM_020783.4" HGNC:11513 SYT5 synaptotagmin 5 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 synaptotagmin V Synaptotagmins 765 1995-09-27 2015-11-20 2023-01-20 6861 ENSG00000129990 OTTHUMG00000180669 uc002qjn.2 X96783 NM_003180 "CCDS74455|CCDS12919" O00445 9177789 MGI:1926368 RGD:3806 600782 HGNC:11513 "ENST00000354308.8|NM_003180.3" -HGNC:18638 SYT6 synaptotagmin 6 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 synaptotagmin VI Synaptotagmins 765 2002-05-14 2015-11-20 2023-01-20 148281 ENSG00000134207 OTTHUMG00000011755 uc057jph.1 NM_205848 "CCDS91026|CCDS91027|CCDS871" Q5T7P8 11543631 MGI:1859544 RGD:62012 607718 HGNC:18638 "ENST00000610222.3|NM_001253772.2" -HGNC:11514 SYT7 synaptotagmin 7 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "IPCA-7|SYT-VII|MGC150517" PCANAP7 "prostate cancer associated protein 7|synaptotagmin VII" Synaptotagmins 765 1999-07-14 2015-11-20 2023-01-20 9066 ENSG00000011347 OTTHUMG00000168199 uc001nrv.4 AF038535 NM_004200 "CCDS31577|CCDS73298|CCDS58139|CCDS91486|CCDS91487" O43581 9615227 MGI:1859545 RGD:62013 604146 HGNC:11514 "ENST00000539008.6|NM_001365809.2" -HGNC:19264 SYT8 synaptotagmin 8 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 DKFZp434K0322 synaptotagmin VIII Synaptotagmins 765 2002-11-12 2015-11-20 2023-01-20 90019 ENSG00000149043 OTTHUMG00000009026 uc001lue.2 AL137708 NM_001290332 "CCDS7726|CCDS91401" Q8NBV8 7791877 MGI:1859867 RGD:68399 607719 HGNC:19264 "ENST00000341958.4|NM_001394072.1" +HGNC:18638 SYT6 synaptotagmin 6 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 synaptotagmin VI Synaptotagmins 765 2002-05-14 2015-11-20 2023-01-20 148281 ENSG00000134207 OTTHUMG00000011755 uc057jph.1 NM_205848 "CCDS91027|CCDS871|CCDS91026" Q5T7P8 11543631 MGI:1859544 RGD:62012 607718 HGNC:18638 "ENST00000610222.3|NM_001253772.2" +HGNC:11514 SYT7 synaptotagmin 7 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "IPCA-7|SYT-VII|MGC150517" PCANAP7 "prostate cancer associated protein 7|synaptotagmin VII" Synaptotagmins 765 1999-07-14 2015-11-20 2023-01-20 9066 ENSG00000011347 OTTHUMG00000168199 uc001nrv.4 AF038535 NM_004200 "CCDS91487|CCDS91486|CCDS58139|CCDS31577|CCDS73298" O43581 9615227 MGI:1859545 RGD:62013 604146 HGNC:11514 "ENST00000539008.6|NM_001365809.2" +HGNC:19264 SYT8 synaptotagmin 8 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 DKFZp434K0322 synaptotagmin VIII Synaptotagmins 765 2002-11-12 2015-11-20 2023-01-20 90019 ENSG00000149043 OTTHUMG00000009026 uc001lue.2 AL137708 NM_001290332 "CCDS91401|CCDS7726" Q8NBV8 7791877 MGI:1859867 RGD:68399 607719 HGNC:19264 "ENST00000341958.4|NM_001394072.1" HGNC:19265 SYT9 synaptotagmin 9 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 synaptotagmin IX Synaptotagmins 765 2004-10-20 2015-11-20 2023-01-20 143425 ENSG00000170743 OTTHUMG00000165499 uc001mfe.4 AK055003 NM_175733 CCDS7778 Q86SS6 11543631 MGI:1926373 RGD:621169 613528 HGNC:19265 "ENST00000318881.11|NM_175733.4" HGNC:56173 SYT9-AS1 SYT9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2022-01-14 2022-01-14 100506258 ENSG00000251364 NR_103855 HGNC:19266 SYT10 synaptotagmin 10 protein-coding gene gene with protein product Approved 12p11.1 12p11.1 synaptotagmin X Synaptotagmins 765 2004-01-12 2015-11-20 2023-01-20 341359 ENSG00000110975 OTTHUMG00000169269 uc001rll.2 AY198413 NM_198992 CCDS8732 Q6XYQ8 MGI:1859546 RGD:62041 HGNC:19266 "ENST00000228567.7|NM_198992.4" HGNC:19239 SYT11 synaptotagmin 11 protein-coding gene gene with protein product Approved 1q22 01q22 "KIAA0080|MGC10881|MGC17226|DKFZp781D015" synaptotagmin XI Synaptotagmins 765 2002-09-20 2015-11-20 2023-01-20 23208 ENSG00000132718 OTTHUMG00000014105 uc001fmg.4 D38522 NM_152280 CCDS1122 Q9BT88 11543631 MGI:1859547 RGD:62042 608741 HGNC:19239 "ENST00000368324.5|NM_152280.5" HGNC:18381 SYT12 synaptotagmin 12 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 SRG1 synaptotagmin XII "Synaptotagmins|MicroRNA protein coding host genes" "765|1691" 2002-03-17 2015-11-20 2023-01-20 91683 ENSG00000173227 OTTHUMG00000167101 uc058ech.1 AK024280 NM_177963 CCDS8154 Q8IV01 8987811 MGI:2159601 RGD:621876 606436 HGNC:18381 "ENST00000527043.6|NM_177963.4" HGNC:14962 SYT13 synaptotagmin 13 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 KIAA1427 synaptotagmin XIII Synaptotagmins 765 2001-03-26 2015-11-20 2023-01-20 57586 ENSG00000019505 OTTHUMG00000166504 uc001myq.3 AB037848 NM_020826 CCDS31470 Q7L8C5 11171101 MGI:1933945 RGD:621877 607716 HGNC:14962 "ENST00000020926.8|NM_020826.3" -HGNC:23143 SYT14 synaptotagmin 14 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "sytXIV|FLJ34198" synaptotagmin XIV Synaptotagmins 765 2003-09-17 2015-11-20 2023-03-15 255928 ENSG00000143469 OTTHUMG00000036652 uc009xcv.5 AK091517 NM_153262 "CCDS31014|CCDS53470|CCDS58058|CCDS91157" Q8NB59 "12801916|17304550" MGI:2444490 RGD:1592654 610949 284278 HGNC:23143 "ENST00000367019.6|NM_001146262.4" HGNC:23143 +HGNC:23143 SYT14 synaptotagmin 14 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "sytXIV|FLJ34198" synaptotagmin XIV Synaptotagmins 765 2003-09-17 2015-11-20 2023-03-15 255928 ENSG00000143469 OTTHUMG00000036652 uc009xcv.5 AK091517 NM_153262 "CCDS53470|CCDS91157|CCDS31014|CCDS58058" Q8NB59 "12801916|17304550" MGI:2444490 RGD:1592654 610949 284278 HGNC:23143 "ENST00000367019.6|NM_001146262.4" HGNC:23143 HGNC:33429 SYT14P1 synaptotagmin 14 pseudogene 1 pseudogene pseudogene Approved 4q13.2 04q13.2 "SYTDEP|CHR415SYT" SYT14L "synaptotagmin XIV-like|synaptotagmin XIV pseudogene 1" 2007-03-29 2014-07-02 2015-11-20 2023-03-15 401135 ENSG00000215127 OTTHUMG00000157371 AJ303368 NR_027094 Q58G82 16376304 610892 PGOHUM00000250714 HGNC:33429 HGNC:17167 SYT15 synaptotagmin 15 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 CHR10SYT synaptotagmin XV Synaptotagmins 765 2003-06-05 2015-11-20 2023-01-20 83849 ENSG00000204176 OTTHUMG00000018103 uc001jea.4 AJ303363 NM_031912 "CCDS73103|CCDS73104" Q9BQS2 11543631 MGI:2442166 RGD:727964 608081 HGNC:17167 "ENST00000374321.9|NM_031912.5" HGNC:56167 SYT15-AS1 SYT15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.22 10q11.22 Antisense RNAs 1987 2022-01-14 2022-01-14 101927699 ENSG00000231187 NR_155739 HGNC:51487 SYT15B synaptotagmin 15B protein-coding gene gene with protein product Approved 10q11.22 10q11.22 2022-01-14 2023-01-20 102724488 ENSG00000277758 OTTHUMG00000189287 NM_001370182 "CCDS91239|CCDS91240" X6R8R1 "ENST00000615923.4|NM_001370184.1" HGNC:23142 SYT16 synaptotagmin 16 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "yt14r|CHR14SYT|Strep14" "synaptotagmin XIV-related|chr14 synaptotagmin" SYT14L "synaptotagmin XIV-like|synaptotagmin XVI" Synaptotagmins 765 2003-09-18 2005-07-15 2015-11-20 2023-01-20 83851 ENSG00000139973 OTTHUMG00000171106 uc001xfu.2 BC040924 NM_031914 CCDS45121 Q17RD7 11543631 MGI:2673872 RGD:1564654 610950 HGNC:23142 "ENST00000683842.1|NM_001367656.1" -HGNC:24119 SYT17 synaptotagmin 17 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 Syt-17 B/K protein synaptotagmin XVII Synaptotagmins 765 2005-07-15 2015-11-20 2023-01-20 51760 ENSG00000103528 OTTHUMG00000131461 uc002dfw.4 NM_016524 "CCDS10575|CCDS92119|CCDS81952|CCDS76835" Q9BSW7 "10493829|31387992" MGI:104966 RGD:708576 HGNC:24119 "ENST00000355377.7|NM_016524.4" +HGNC:24119 SYT17 synaptotagmin 17 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 Syt-17 B/K protein synaptotagmin XVII Synaptotagmins 765 2005-07-15 2015-11-20 2023-01-20 51760 ENSG00000103528 OTTHUMG00000131461 uc002dfw.4 NM_016524 "CCDS10575|CCDS81952|CCDS76835|CCDS92119" Q9BSW7 "10493829|31387992" MGI:104966 RGD:708576 HGNC:24119 "ENST00000355377.7|NM_016524.4" HGNC:15584 SYTL1 synaptotagmin like 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SLP1|JFC1|FLJ14996|exophilin-7" synaptotagmin-like 1 Synaptotagmin like tandem C2 proteins 822 2004-05-10 2015-11-11 2023-01-20 84958 ENSG00000142765 OTTHUMG00000005770 uc001bnv.3 AK027902 NM_032872 "CCDS298|CCDS53286" Q8IYJ3 12137562 MGI:1933365 RGD:1310715 608042 HGNC:15584 "ENST00000616558.5|NM_001193308.2" -HGNC:15585 SYTL2 synaptotagmin like 2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "FLJ20163|FLJ21219|KIAA1597|exophilin-4|CHR11SYT|SLP2|SGA72M|MGC102768|PPP1R151" "chromosome 11 synaptotagmin|breast cancer-associated antigen SGA-72M|protein phosphatase 1, regulatory subunit 151" "Protein phosphatase 1 regulatory subunits|Synaptotagmin like tandem C2 proteins" "694|822" 2001-06-25 2015-11-18 2023-03-15 54843 ENSG00000137501 OTTHUMG00000166977 uc010rti.4 AJ303364 NM_206927 "CCDS53687|CCDS31649|CCDS31652|CCDS76461|CCDS41698|CCDS91568|CCDS91569|CCDS53688|CCDS53689" Q9HCH5 10997877 MGI:1933366 RGD:1307647 612880 HGNC:15585 "ENST00000359152.10|NM_206927.4" -HGNC:15587 SYTL3 synaptotagmin like 3 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "SLP3|exophilin-6" Synaptotagmin like tandem C2 proteins 822 2001-07-31 2015-11-18 2023-01-20 94120 ENSG00000164674 OTTHUMG00000015916 uc003qrs.3 AK055750 NM_001009991 "CCDS56458|CCDS34563" Q4VX76 11773082 MGI:1933367 RGD:1561992 HGNC:15587 "ENST00000611299.5|NM_001242394.2" +HGNC:15585 SYTL2 synaptotagmin like 2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "FLJ20163|FLJ21219|KIAA1597|exophilin-4|CHR11SYT|SLP2|SGA72M|MGC102768|PPP1R151" "chromosome 11 synaptotagmin|breast cancer-associated antigen SGA-72M|protein phosphatase 1, regulatory subunit 151" "Protein phosphatase 1 regulatory subunits|Synaptotagmin like tandem C2 proteins" "694|822" 2001-06-25 2015-11-18 2023-03-15 54843 ENSG00000137501 OTTHUMG00000166977 uc010rti.4 AJ303364 NM_206927 "CCDS41698|CCDS31649|CCDS91569|CCDS91568|CCDS53688|CCDS76461|CCDS53687|CCDS53689|CCDS31652" Q9HCH5 10997877 MGI:1933366 RGD:1307647 612880 HGNC:15585 "ENST00000359152.10|NM_206927.4" +HGNC:15587 SYTL3 synaptotagmin like 3 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "SLP3|exophilin-6" Synaptotagmin like tandem C2 proteins 822 2001-07-31 2015-11-18 2023-01-20 94120 ENSG00000164674 OTTHUMG00000015916 uc003qrs.3 AK055750 NM_001009991 "CCDS34563|CCDS56458" Q4VX76 11773082 MGI:1933367 RGD:1561992 HGNC:15587 "ENST00000611299.5|NM_001242394.2" HGNC:15588 SYTL4 synaptotagmin like 4 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "granuphilin-a|exophilin-2" Synaptotagmin like tandem C2 proteins 822 2001-07-31 2015-11-18 2023-01-20 94121 ENSG00000102362 OTTHUMG00000022004 uc010nnc.5 NM_080737 CCDS14472 Q96C24 MGI:1351606 RGD:620204 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYTL4 300723 HGNC:15588 "ENST00000372989.6|NM_001370165.1" HGNC:15588 -HGNC:15589 SYTL5 synaptotagmin like 5 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 exophilin 9 synaptotagmin-like 5 Synaptotagmin like tandem C2 proteins 822 2001-07-31 2015-11-18 2023-01-20 94122 ENSG00000147041 OTTHUMG00000033176 uc004ddx.4 NM_138780 "CCDS55399|CCDS14244" Q8TDW5 MGI:2668451 RGD:631342 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYTL5 HGNC:15589 "ENST00000297875.7|NM_138780.3" +HGNC:15589 SYTL5 synaptotagmin like 5 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 exophilin 9 synaptotagmin-like 5 Synaptotagmin like tandem C2 proteins 822 2001-07-31 2015-11-18 2023-01-20 94122 ENSG00000147041 OTTHUMG00000033176 uc004ddx.4 NM_138780 "CCDS14244|CCDS55399" Q8TDW5 MGI:2668451 RGD:631342 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYTL5 HGNC:15589 "ENST00000297875.7|NM_138780.3" HGNC:20738 SYVN1 synoviolin 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HRD1|DER3" HMG-coA reductase degradation 1 homolog (S. cerevisiae) synovial apoptosis inhibitor 1, synoviolin "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2004-07-28 2015-11-20 2023-01-20 84447 ENSG00000162298 OTTHUMG00000165607 uc001odc.3 AB085847 NM_032431 "CCDS31605|CCDS8097" Q86TM6 12975321 MGI:1921376 RGD:1310488 608046 HGNC:20738 "ENST00000377190.8|NM_172230.3" HGNC:20738 HGNC:30232 SZRD1 SUZ RNA binding domain containing 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 DKFZp566C0424 C1orf144 chromosome 1 open reading frame 144 2005-07-08 2012-07-23 2012-07-23 2023-03-15 26099 ENSG00000055070 OTTHUMG00000002217 uc001aym.6 BC010631 NM_001114600 "CCDS44065|CCDS60000" Q7Z422 12761501 MGI:1098672 RGD:1560286 HGNC:30232 "ENST00000401088.9|NM_001114600.3" HGNC:56315 SZRD1P1 SZRD1 pseudogene 1 pseudogene pseudogene Approved 12q15 12q15 2022-09-12 2022-09-12 100130075 ENSG00000256678 NR_073494 PGOHUM00000291398 @@ -38046,16 +38049,16 @@ HGNC:20977 TAAR9 trace amine associated receptor 9 protein-coding gene gene with HGNC:18157 TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "TAK1-binding protein 1|mitogen-activated protein kinase kinase kinase 7 interacting protein 1" MAP3K7IP1 "mitogen-activated protein kinase kinase kinase 7 interacting protein 1|TGF-beta activated kinase 1/MAP3K7 binding protein 1" 2002-02-22 2010-02-05 2016-07-20 2023-01-20 10454 ENSG00000100324 OTTHUMG00000151102 uc003axt.4 U49928 NM_153497 "CCDS13993|CCDS13992" Q15750 "8638164|10187861" MGI:1913763 RGD:1306216 602615 HGNC:18157 "ENST00000216160.11|NM_006116.3" HGNC:17075 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 KIAA0733 TAK1 binding protein 2 MAP3K7IP2 "mitogen-activated protein kinase kinase kinase 7 interacting protein 2|TGF-beta activated kinase 1/MAP3K7 binding protein 2" Zinc fingers RANBP2-type 89 2002-02-22 2010-02-05 2018-02-12 2023-03-15 23118 ENSG00000055208 OTTHUMG00000015783 uc063sdy.1 AF241230 NM_001292034 CCDS5214 Q9NYJ8 "9872452|10882101" MGI:1915902 RGD:1309527 605101 471180 HGNC:17075 "ENST00000637181.2|NM_001292034.3" HGNC:17075 HGNC:53508 TAB2-AS1 TAB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.1 06q25.1 Antisense RNAs 1987 2017-05-12 2017-05-12 105378049 ENSG00000225924 OTTHUMG00000191683 NR_149096 HGNC:53508 -HGNC:30681 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 TAK1 binding protein 3 MAP3K7IP3 "mitogen-activated protein kinase kinase kinase 7 interacting protein 3|TGF-beta activated kinase 1/MAP3K7 binding protein 3|TGF-beta activated kinase 1 and MAP3K7 binding protein 3" Zinc fingers RANBP2-type 89 2006-06-26 2010-02-05 2018-02-12 2023-01-20 257397 ENSG00000157625 OTTHUMG00000021329 uc004dck.3 AY331591 NM_152787 "CCDS94584|CCDS14226" Q8N5C8 "14633987|14670075" MGI:1913974 RGD:1594527 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP3K7IP3 300480 HGNC:30681 "ENST00000288422.4|NM_152787.5" +HGNC:30681 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 TAK1 binding protein 3 MAP3K7IP3 "mitogen-activated protein kinase kinase kinase 7 interacting protein 3|TGF-beta activated kinase 1/MAP3K7 binding protein 3|TGF-beta activated kinase 1 and MAP3K7 binding protein 3" Zinc fingers RANBP2-type 89 2006-06-26 2010-02-05 2018-02-12 2023-01-20 257397 ENSG00000157625 OTTHUMG00000021329 uc004dck.3 AY331591 NM_152787 "CCDS14226|CCDS94584" Q8N5C8 "14633987|14670075" MGI:1913974 RGD:1594527 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP3K7IP3 300480 HGNC:30681 "ENST00000288422.4|NM_152787.5" HGNC:20176 TAB3-AS1 TAB3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp21.2 Xp21.2 OTTHUMG00000021331 CXorf29 "chromosome X open reading frame 29|TAB3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2006-06-30 2011-04-28 2012-08-15 2014-11-19 727682 ENSG00000231542 OTTHUMG00000021331 uc064ylp.1 NR_145449 TAB3-AS1 HGNC:20176 HGNC:40013 TAB3-AS2 TAB3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved Xp21.2 Xp21.2 TAB3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-28 2012-08-15 2014-11-19 100873926 ENSG00000235512 OTTHUMG00000021330 uc064ylr.1 BI002962 TAB3-AS2 HGNC:37723 TAB3P1 TGF-beta activated kinase 1/MAP3K7 binding protein 3 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 2010-02-05 2014-11-19 643199 ENSG00000235462 OTTHUMG00000036321 NG_005581 HGNC:37723 -HGNC:11517 TAC1 tachykinin precursor 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 NPK "substance K|substance P|neurokinin 1|neurokinin 2|neuromedin L|neurokinin alpha|neuropeptide K|neuropeptide gamma|preprotachykinin|protachykinin" "TAC2|NKNA" tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma) Tachykinin precursors 1901 1991-12-11 2015-11-26 2023-01-20 6863 ENSG00000006128 OTTHUMG00000154069 uc003uop.5 M68907 NM_003182 "CCDS5649|CCDS5651|CCDS5650" P20366 1708336 MGI:98474 RGD:3807 162320 ligandId:2091 HGNC:11517 "ENST00000319273.10|NM_003182.3" +HGNC:11517 TAC1 tachykinin precursor 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 NPK "substance K|substance P|neurokinin 1|neurokinin 2|neuromedin L|neurokinin alpha|neuropeptide K|neuropeptide gamma|preprotachykinin|protachykinin" "TAC2|NKNA" tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma) Tachykinin precursors 1901 1991-12-11 2015-11-26 2023-01-20 6863 ENSG00000006128 OTTHUMG00000154069 uc003uop.5 M68907 NM_003182 "CCDS5650|CCDS5651|CCDS5649" P20366 1708336 MGI:98474 RGD:3807 162320 ligandId:2091 HGNC:11517 "ENST00000319273.10|NM_003182.3" HGNC:11521 TAC3 tachykinin precursor 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "ZNEUROK1|NKB|NK3|LncZBTB39-1:2|LncZBTB39" preprotachykinin-B NKNB "neuromedin K|neurokinin beta|tachykinin 3" Tachykinin precursors 1901 1986-01-01 2019-07-04 2023-03-15 6866 ENSG00000166863 OTTHUMG00000156958 uc058prt.1 AF186112 NM_001006667 "CCDS8928|CCDS53803" Q9UHF0 "3479225|10866201" MGI:98476 RGD:3809 162330 178814 ligandId:2090 HGNC:11521 "ENST00000458521.7|NM_013251.4" HGNC:11521 -HGNC:16641 TAC4 tachykinin precursor 4 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "HK-1|Pptc|PPT-C" hemokinin tachykinin 4 Tachykinin precursors 1901 2004-10-20 2019-07-04 2023-01-20 255061 ENSG00000176358 OTTHUMG00000161830 uc002ipo.1 AF521560 NM_170685 "CCDS42358|CCDS42357|CCDS45727|CCDS42359|CCDS42360" Q86UU9 "11062498|12383518" MGI:1931130 RGD:628842 607833 HGNC:16641 "ENST00000436235.6|NM_001077506.2" -HGNC:11522 TACC1 transforming acidic coiled-coil containing protein 1 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 transforming, acidic coiled-coil containing protein 1 TACC family 1943 1998-07-10 2016-02-01 2023-01-20 6867 ENSG00000147526 OTTHUMG00000164018 uc010lwp.3 AF049910 NM_006283 "CCDS83284|CCDS87602|CCDS6109|CCDS55224|CCDS87601|CCDS94286|CCDS47845" O75410 10435627 MGI:2443510 RGD:1303120 605301 311455 HGNC:11522 "ENST00000317827.9|NM_006283.3" +HGNC:16641 TAC4 tachykinin precursor 4 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "HK-1|Pptc|PPT-C" hemokinin tachykinin 4 Tachykinin precursors 1901 2004-10-20 2019-07-04 2023-01-20 255061 ENSG00000176358 OTTHUMG00000161830 uc002ipo.1 AF521560 NM_170685 "CCDS45727|CCDS42360|CCDS42359|CCDS42358|CCDS42357" Q86UU9 "11062498|12383518" MGI:1931130 RGD:628842 607833 HGNC:16641 "ENST00000436235.6|NM_001077506.2" +HGNC:11522 TACC1 transforming acidic coiled-coil containing protein 1 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 transforming, acidic coiled-coil containing protein 1 TACC family 1943 1998-07-10 2016-02-01 2023-01-20 6867 ENSG00000147526 OTTHUMG00000164018 uc010lwp.3 AF049910 NM_006283 "CCDS47845|CCDS94286|CCDS87601|CCDS87602|CCDS55224|CCDS6109|CCDS83284" O75410 10435627 MGI:2443510 RGD:1303120 605301 311455 HGNC:11522 "ENST00000317827.9|NM_006283.3" HGNC:44974 TACC1P1 transforming acidic coiled-coil containing protein 1 pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 transforming, acidic coiled-coil containing protein 1 pseudogene 1 2012-12-20 2016-02-01 2016-02-01 219752 ENSG00000224920 OTTHUMG00000017974 NG_022170 PGOHUM00000238728 HGNC:44974 -HGNC:11523 TACC2 transforming acidic coiled-coil containing protein 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "AZU-1|ECTACC" transforming, acidic coiled-coil containing protein 2 TACC family 1943 1998-10-12 2016-02-01 2023-01-20 10579 ENSG00000138162 OTTHUMG00000019181 uc001lfv.4 AF095791 NM_001291876 "CCDS7626|CCDS7628|CCDS76348|CCDS76349|CCDS76351|CCDS7627|CCDS76352|CCDS7625" O95359 "11161455|14767476" MGI:1928899 RGD:1303004 605302 HGNC:11523 "ENST00000369005.6|NM_206862.4" +HGNC:11523 TACC2 transforming acidic coiled-coil containing protein 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "AZU-1|ECTACC" transforming, acidic coiled-coil containing protein 2 TACC family 1943 1998-10-12 2016-02-01 2023-01-20 10579 ENSG00000138162 OTTHUMG00000019181 uc001lfv.4 AF095791 NM_001291876 "CCDS7626|CCDS7625|CCDS76348|CCDS76349|CCDS7627|CCDS76352|CCDS7628|CCDS76351" O95359 "11161455|14767476" MGI:1928899 RGD:1303004 605302 HGNC:11523 "ENST00000369005.6|NM_206862.4" HGNC:11524 TACC3 transforming acidic coiled-coil containing protein 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "ERIC1|ERIC-1|maskin|Tacc4" transforming, acidic coiled-coil containing protein 3 TACC family 1943 1998-10-12 2016-02-01 2023-01-20 10460 ENSG00000013810 OTTHUMG00000089535 uc003gdo.4 AF093543 NM_001410699 "CCDS3352|CCDS93465" Q9Y6A5 "10366448|17675670" MGI:1341163 RGD:1302948 LRG_1367|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1367.xml 605303 311452 HGNC:11524 "ENST00000313288.9|NM_006342.3" HGNC:24316 TACO1 translational activator of cytochrome c oxidase I protein-coding gene gene with protein product Approved 17q23.3 17q23.3 translational activator of COX I CCDC44 "coiled-coil domain containing 44|translational activator of mitochondrially encoded cytochrome c oxidase I" Mitochondrial respiratory chain complex assembly factors 645 2005-12-16 2009-06-26 2016-04-11 2023-01-20 51204 ENSG00000136463 OTTHUMG00000178904 uc002jbd.3 BC005049 NM_016360 CCDS11640 Q9BSH4 19503089 MGI:1917457 RGD:1306784 612958 201567 HGNC:24316 "ENST00000258975.7|NM_016360.4" HGNC:24316 HGNC:11526 TACR1 tachykinin receptor 1 protein-coding gene gene with protein product Approved 2p12 02p12 "SPR|NK1R|NKIR" "substance-P receptor|neurokinin receptor 1" TAC1R Tachykinin receptors 258 1991-12-11 2023-01-20 6869 ENSG00000115353 OTTHUMG00000129973 uc002sng.3 M76675 NM_001058 "CCDS46345|CCDS1958" P25103 1657150 MGI:98475 RGD:3811 162323 objectId:360 HGNC:11526 "ENST00000305249.10|NM_001058.4" @@ -38066,26 +38069,26 @@ HGNC:11530 TACSTD2 tumor associated calcium signal transducer 2 protein-coding g HGNC:30631 TADA1 transcriptional adaptor 1 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 "STAF42|ADA1|hADA1|HFI1" TADA1L "transcriptional adaptor 1 (HFI1 homolog, yeast)-like|transcriptional adaptor 1 (HFI1 homolog, yeast)" SAGA complex 1059 2005-06-10 2009-10-02 2009-10-02 2023-01-20 117143 ENSG00000152382 OTTHUMG00000034321 uc001gdw.4 BC015401 NM_053053 CCDS1255 Q96BN2 11564863 MGI:1196415 RGD:1306774 612763 HGNC:30631 "ENST00000367874.5|NM_053053.4" HGNC:11531 TADA2A transcriptional adaptor 2A protein-coding gene gene with protein product Approved 17q12 17q12 "ADA2|hADA2|ADA2A" TADA2L transcriptional adaptor 2 (ADA2 homolog, yeast)-like "Myb/SANT domain containing|ATAC complex" "532|1058" 1996-12-17 2009-10-02 2009-10-02 2023-01-20 6871 ENSG00000276234 OTTHUMG00000188469 uc002hnt.4 AK022767 NM_001488 "CCDS45656|CCDS11319" O75478 8552087 MGI:2144471 RGD:1309959 602276 471182 HGNC:11531 "ENST00000615182.5|NM_001166105.3" HGNC:30781 TADA2B transcriptional adaptor 2B protein-coding gene gene with protein product Approved 4p16.1 04p16.1 MGC21874 "Zinc fingers ZZ-type|Myb/SANT domain containing|SAGA complex" "91|532|1059" 2009-10-02 2023-01-20 93624 ENSG00000173011 OTTHUMG00000159983 uc003gjw.5 AK026299 NM_152293 CCDS47007 Q86TJ2 "12972612|18936164" MGI:3035274 RGD:1561605 608790 HGNC:30781 "ENST00000310074.8|NM_152293.3" -HGNC:19422 TADA3 transcriptional adaptor 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "FLJ20221|FLJ21329|ADA3|hADA3|NGG1" alteration/deficiency in activation 3 TADA3L transcriptional adaptor 3 (NGG1 homolog, yeast)-like "ATAC complex|SAGA complex" "1058|1059" 2003-02-13 2009-10-02 2009-10-02 2023-01-20 10474 ENSG00000171148 OTTHUMG00000128440 uc003bsx.3 AF069733 NM_001278270 "CCDS2584|CCDS2583" O75528 "9674425|11707411" MGI:1915724 RGD:1564009 602945 HGNC:19422 "ENST00000301964.7|NM_006354.5" -HGNC:11535 TAF1 TATA-box binding protein associated factor 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "NSCL2|TAFII250|KAT4|DYT3/TAF1" "TAF2A|BA2R|CCG1|CCGS|DYT3" "TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD|dystonia 3 (with Parkinsonism)|TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa" "Lysine acetyltransferases|Bromodomain containing|General transcription factor IID complex subunits " "486|1232|1878" 1986-01-01 2001-12-07 2015-11-20 2023-03-15 6872 ENSG00000147133 OTTHUMG00000022723 uc004dzt.6 NM_004606 "CCDS14412|CCDS35325" P21675 "3556424|12928496|17952504" MGI:1336878 RGD:1562050 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TAF1 313650 139199 objectId:2231 HGNC:11535 "ENST00000423759.6|NM_004606.5" HGNC:11535 +HGNC:19422 TADA3 transcriptional adaptor 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "FLJ20221|FLJ21329|ADA3|hADA3|NGG1" alteration/deficiency in activation 3 TADA3L transcriptional adaptor 3 (NGG1 homolog, yeast)-like "ATAC complex|SAGA complex" "1058|1059" 2003-02-13 2009-10-02 2009-10-02 2023-01-20 10474 ENSG00000171148 OTTHUMG00000128440 uc003bsx.3 AF069733 NM_001278270 "CCDS2583|CCDS2584" O75528 "9674425|11707411" MGI:1915724 RGD:1564009 602945 HGNC:19422 "ENST00000301964.7|NM_006354.5" +HGNC:11535 TAF1 TATA-box binding protein associated factor 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "NSCL2|TAFII250|KAT4|DYT3/TAF1" "TAF2A|BA2R|CCG1|CCGS|DYT3" "TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD|dystonia 3 (with Parkinsonism)|TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa" "Lysine acetyltransferases|Bromodomain containing|General transcription factor IID complex subunits " "486|1232|1878" 1986-01-01 2001-12-07 2015-11-20 2023-03-15 6872 ENSG00000147133 OTTHUMG00000022723 uc004dzt.6 NM_004606 "CCDS35325|CCDS14412" P21675 "3556424|12928496|17952504" MGI:1336878 RGD:1562050 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TAF1 313650 139199 objectId:2231 HGNC:11535 "ENST00000423759.6|NM_004606.5" HGNC:11535 HGNC:11532 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A protein-coding gene gene with protein product Approved 1q41 01q41 "TAFI48|SL1" "TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD|TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa" 1999-01-18 2016-03-01 2023-01-20 9015 ENSG00000143498 OTTHUMG00000037544 uc009xdz.2 L39060 NM_005681 "CCDS1531|CCDS1532" Q15573 7801123 MGI:109578 RGD:1305698 604903 HGNC:11532 "ENST00000352967.9|NM_005681.4" HGNC:11532 HGNC:40573 TAF1A-AS1 TAF1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2014-05-21 2014-11-19 100506161 ENSG00000225265 OTTHUMG00000037542 NR_110613 TAF1A-AS1 HGNC:40573 HGNC:11533 TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "TAFI63|SL1|RAF1B|RAFI63" "TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD|TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa" 1999-01-18 2016-03-01 2023-01-20 9014 ENSG00000115750 OTTHUMG00000151673 uc002qzz.4 L39061 NM_005680 CCDS33143 Q53T94 7801123 MGI:109577 RGD:1596058 604904 HGNC:11533 "ENST00000263663.10|NM_005680.3" -HGNC:11534 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "TAFI110|TAFI95|SL1|MGC:39976" "TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD|TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa" 1999-01-18 2016-03-01 2023-01-20 9013 ENSG00000103168 OTTHUMG00000176665 uc002fhn.4 L39059 NM_139353 "CCDS45535|CCDS58489|CCDS32496|CCDS58488" Q15572 7801123 MGI:109576 RGD:1305658 604905 HGNC:11534 "ENST00000566732.6|NM_001243156.2" HGNC:11534 +HGNC:11534 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "TAFI110|TAFI95|SL1|MGC:39976" "TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD|TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa" 1999-01-18 2016-03-01 2023-01-20 9013 ENSG00000103168 OTTHUMG00000176665 uc002fhn.4 L39059 NM_139353 "CCDS58489|CCDS32496|CCDS58488|CCDS45535" Q15572 7801123 MGI:109576 RGD:1305658 604905 HGNC:11534 "ENST00000566732.6|NM_001243156.2" HGNC:11534 HGNC:28759 TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D protein-coding gene gene with protein product Approved 11q21 11q21 "MGC5306|TAF(I)41" JOSD3 "Josephin domain containing 3|TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa" Small nucleolar RNA protein coding host genes 1835 2005-11-10 2008-09-30 2016-03-01 2023-01-20 79101 ENSG00000166012 OTTHUMG00000167451 uc001ped.5 NM_024116 CCDS8293 Q9H5J8 "15520167|17318177" MGI:1922566 RGD:1309627 612823 HGNC:28759 "ENST00000448108.7|NM_024116.4" HGNC:18056 TAF1L TATA-box binding protein associated factor 1 like protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa|TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like" Bromodomain containing 1232 2002-11-13 2015-11-20 2023-01-20 138474 ENSG00000122728 OTTHUMG00000019747 uc003zrg.1 AF390562 NM_153809 CCDS35003 Q8IZX4 12217962 MGI:1336878 607798 objectId:2232 HGNC:18056 "ENST00000242310.4|NM_153809.2" HGNC:11536 TAF2 TATA-box binding protein associated factor 2 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "TAFII150|CIF150" TAF2B "TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD|TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa" "M1 metallopeptidases|General transcription factor IID complex subunits " "1437|1878" 1995-07-07 2001-12-07 2015-11-20 2023-01-20 6873 ENSG00000064313 OTTHUMG00000165009 uc003you.4 AF040701 NM_003184 CCDS34937 Q6P1X5 "9774672|9418870" MGI:2443028 RGD:621487 604912 401879 M01.972 HGNC:11536 "ENST00000378164.7|NM_003184.4" HGNC:11536 HGNC:17303 TAF3 TATA-box binding protein associated factor 3 protein-coding gene gene with protein product Approved 10p14 10p14 "TAF140|TAFII140" "TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD|TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa" "PHD finger proteins|Armadillo like helical domain containing|General transcription factor IID complex subunits " "88|1492|1878" 2001-12-03 2015-11-20 2023-01-20 83860 ENSG00000165632 OTTHUMG00000017643 uc010qbd.4 AJ292190 NM_031923 CCDS41487 Q5VWG9 "11438666|18549481" MGI:2388097 RGD:2324594 606576 HGNC:17303 "ENST00000344293.6|NM_031923.4" HGNC:11537 TAF4 TATA-box binding protein associated factor 4 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "TAFII130|TAFII135" "TAF4A|TAF2C1|TAF2C" "TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD|TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa" General transcription factor IID complex subunits 1878 1995-07-07 2002-01-18 2015-11-20 2023-01-20 6874 ENSG00000130699 OTTHUMG00000032893 uc002ybs.3 Y11354 NM_003185 CCDS33500 O00268 "8942982|9192867" MGI:2152346 RGD:1588072 601796 HGNC:11537 "ENST00000252996.9|NM_003185.4" -HGNC:11538 TAF4B TATA-box binding protein associated factor 4b protein-coding gene gene with protein product Approved 18q11.2 18q11.2 TAFII105 TATA box binding protein (TBP)-associated factor 4B TAF2C2 "TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD|TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa" 1997-05-09 2001-12-07 2015-11-20 2023-01-20 6875 ENSG00000141384 OTTHUMG00000179429 uc002kvu.5 Y09321 NM_005640 "CCDS77170|CCDS42421" Q92750 "8858156|10849440" MGI:2152345 RGD:1562997 601689 401597 HGNC:11538 "ENST00000269142.10|NM_005640.3" HGNC:11538 +HGNC:11538 TAF4B TATA-box binding protein associated factor 4b protein-coding gene gene with protein product Approved 18q11.2 18q11.2 TAFII105 TATA box binding protein (TBP)-associated factor 4B TAF2C2 "TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD|TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa" 1997-05-09 2001-12-07 2015-11-20 2023-01-20 6875 ENSG00000141384 OTTHUMG00000179429 uc002kvu.5 Y09321 NM_005640 "CCDS42421|CCDS77170" Q92750 "8858156|10849440" MGI:2152345 RGD:1562997 601689 401597 HGNC:11538 "ENST00000269142.10|NM_005640.3" HGNC:11538 HGNC:11539 TAF5 TATA-box binding protein associated factor 5 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 TAFII100 TAF2D "TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD|TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa" "WD repeat domain containing|General transcription factor IID complex subunits " "362|1878" 1995-07-07 2001-12-07 2015-11-20 2023-01-20 6877 ENSG00000148835 OTTHUMG00000018985 uc001kwv.5 X95525 NM_006951 "CCDS91341|CCDS7547" Q15542 "8884287|8942982" MGI:2442144 RGD:1311332 601787 HGNC:11539 "ENST00000369839.4|NM_006951.5" HGNC:17304 TAF5L TATA-box binding protein associated factor 5 like protein-coding gene gene with protein product Approved 1q42.13 01q42.13 PAF65B PCAF associated factor 65 beta "TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD|TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa" WD repeat domain containing 362 2001-12-04 2015-11-20 2023-01-20 27097 ENSG00000135801 OTTHUMG00000039463 uc001htq.5 AF069736 NM_014409 "CCDS31051|CCDS1581" O75529 "9674425|11124703" MGI:1919039 RGD:1310215 HGNC:17304 "ENST00000258281.7|NM_014409.4" HGNC:24115 TAF5LP1 TATA-box binding protein associated factor 5 like pseudogene 1 pseudogene pseudogene Approved 17q12 17q12 HsT33855 TAF5LP "TAF5-like RNA polymerase II pseudogene|TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa pseudogene 1" 2005-12-20 2010-09-21 2016-06-22 2020-04-20 645744 ENSG00000267369 OTTHUMG00000179903 NG_022466 PGOHUM00000237366 HGNC:24115 -HGNC:11540 TAF6 TATA-box binding protein associated factor 6 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "TAFII70|TAFII80|MGC:8964|TAFII85" "TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD|transcription initiation factor TFIID 70 kD subunit" TAF2E "TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD|TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa" "Armadillo like helical domain containing|General transcription factor IID complex subunits " "1492|1878" 1995-07-07 2001-12-07 2015-11-20 2023-03-15 6878 ENSG00000106290 OTTHUMG00000154771 uc003utk.3 NM_005641 "CCDS94153|CCDS5686|CCDS55135" P49848 826207 MGI:109129 RGD:1311608 602955 471184 HGNC:11540 "ENST00000453269.7|NM_139315.3" +HGNC:11540 TAF6 TATA-box binding protein associated factor 6 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "TAFII70|TAFII80|MGC:8964|TAFII85" "TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD|transcription initiation factor TFIID 70 kD subunit" TAF2E "TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD|TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa" "Armadillo like helical domain containing|General transcription factor IID complex subunits " "1492|1878" 1995-07-07 2001-12-07 2015-11-20 2023-03-15 6878 ENSG00000106290 OTTHUMG00000154771 uc003utk.3 NM_005641 "CCDS94153|CCDS55135|CCDS5686" P49848 826207 MGI:109129 RGD:1311608 602955 471184 HGNC:11540 "ENST00000453269.7|NM_139315.3" HGNC:17305 TAF6L TATA-box binding protein associated factor 6 like protein-coding gene gene with protein product Approved 11q12.3 11q12.3 PAF65A "TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD|TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa" SAGA complex 1059 2001-12-03 2015-11-20 2023-01-20 10629 ENSG00000162227 OTTHUMG00000167610 uc001nvc.4 BC008785 NM_006473 CCDS8035 Q9Y6J9 9674425 MGI:2444957 RGD:1310123 602946 HGNC:17305 "ENST00000294168.8|NM_006473.4" HGNC:11541 TAF7 TATA-box binding protein associated factor 7 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 TAFII55 TAF2F "TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD|TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa" General transcription factor IID complex subunits 1878 1995-07-07 2001-12-07 2015-11-20 2023-01-20 6879 ENSG00000178913 OTTHUMG00000129628 uc003ljg.4 AF349038 NM_005642 CCDS4259 Q15545 7824954 MGI:1346348 RGD:1309935 600573 HGNC:11541 "ENST00000313368.8|NM_005642.3" -HGNC:11548 TAF7L TATA-box binding protein associated factor 7 like protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 CT40 cancer/testis antigen 40 TAF2Q "TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q|TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa" 2000-06-29 2001-12-07 2015-11-20 2023-01-20 54457 ENSG00000102387 OTTHUMG00000022021 uc004ehb.4 AF285595 NM_001168474 "CCDS94640|CCDS35347|CCDS55466" Q5H9L4 11279525 MGI:1921719 RGD:1564898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TAF7L 300314 HGNC:11548 "ENST00000356784.2|NM_001168474.2" -HGNC:17300 TAF8 TATA-box binding protein associated factor 8 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "FLJ32821|TAF(II)43" TBN "TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa|taube nuss homolog (mouse)|TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa" General transcription factor IID complex subunits 1878 2001-12-03 2007-07-30 2015-11-20 2023-01-20 129685 ENSG00000137413 OTTHUMG00000014692 uc003ors.4 AK057383 NM_138572 "CCDS43462|CCDS93919|CCDS93918" Q7Z7C8 MGI:1926879 RGD:1308423 609514 HGNC:17300 "ENST00000372977.8|NM_138572.3" +HGNC:11548 TAF7L TATA-box binding protein associated factor 7 like protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 CT40 cancer/testis antigen 40 TAF2Q "TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q|TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa" 2000-06-29 2001-12-07 2015-11-20 2023-01-20 54457 ENSG00000102387 OTTHUMG00000022021 uc004ehb.4 AF285595 NM_001168474 "CCDS55466|CCDS94640|CCDS35347" Q5H9L4 11279525 MGI:1921719 RGD:1564898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TAF7L 300314 HGNC:11548 "ENST00000356784.2|NM_001168474.2" +HGNC:17300 TAF8 TATA-box binding protein associated factor 8 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "FLJ32821|TAF(II)43" TBN "TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa|taube nuss homolog (mouse)|TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa" General transcription factor IID complex subunits 1878 2001-12-03 2007-07-30 2015-11-20 2023-01-20 129685 ENSG00000137413 OTTHUMG00000014692 uc003ors.4 AK057383 NM_138572 "CCDS93919|CCDS93918|CCDS43462" Q7Z7C8 MGI:1926879 RGD:1308423 609514 HGNC:17300 "ENST00000372977.8|NM_138572.3" HGNC:11542 TAF9 TATA-box binding protein associated factor 9 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "TAFII31|TAFII32|TAFIID32|MGC5067|CGI-137|MGC1603|MGC3647|AD-004" TAF2G "TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD|TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa" General transcription factor IID complex subunits 1878 1995-07-13 2001-12-07 2015-11-20 2023-01-20 6880 ENSG00000273841 OTTHUMG00000099359 uc003jwf.2 U21858 NM_001015892 CCDS4002 Q16594 "10191103|15630091|16079131" MGI:1888697 RGD:727861 600822 HGNC:11542 "ENST00000217893.10|NM_003187.5" HGNC:11542 HGNC:17306 TAF9B TATA-box binding protein associated factor 9b protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "TAFII31L|DN-7|DN7|TFIID-31" TAF9L "TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa|TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa" 2001-12-03 2006-01-04 2015-11-20 2023-01-20 51616 ENSG00000187325 OTTHUMG00000021887 uc004eda.4 AF220509 NM_015975 CCDS35340 Q9HBM6 15899866 MGI:3039562 RGD:621116 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TAF9B 300754 HGNC:17306 "ENST00000341864.6|NM_015975.5" HGNC:30687 TAF9BP1 TATA-box binding protein associated factor 9b pseudogene 1 pseudogene pseudogene Approved 3p24.2 03p24.2 TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 1 2010-08-16 2015-11-20 2015-11-20 246135 ENSG00000213871 OTTHUMG00000155604 NG_001574 PGOHUM00000237966 HGNC:30687 @@ -38114,17 +38117,17 @@ HGNC:52502 TAF12-DT TAF12 divergent transcript non-coding RNA RNA, long non-codi HGNC:11546 TAF13 TATA-box binding protein associated factor 13 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 TAFII18 Transcription initiation factor TFIID subunit 13 TAF2K "TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD|TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa" General transcription factor IID complex subunits 1878 1995-07-13 2001-12-07 2015-11-20 2023-01-20 6884 ENSG00000197780 OTTHUMG00000042363 uc001dwm.2 XM_496381 NM_005645 CCDS30788 Q15543 7729427 MGI:1913500 RGD:1305398 600774 HGNC:11546 "ENST00000338366.6|NM_005645.4" HGNC:11546 HGNC:18699 TAF13P1 TATA-box binding protein associated factor 13 pseudogene 1 pseudogene pseudogene Approved 6q14.3-q15 06q14.3-q15 TAF13P "TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, pseudogene|TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor pseudogene 1" 2002-05-29 2010-04-22 2015-11-20 2015-11-20 246112 AL049697 NG_001573 PGOHUM00000243285 HGNC:18699 HGNC:38161 TAF13P2 TATA-box binding protein associated factor 13 pseudogene 2 pseudogene pseudogene Approved 2p13.1 02p13.1 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa pseudogene 2 2010-04-22 2015-11-20 2015-11-20 100462886 ENSG00000225658 OTTHUMG00000152793 NG_021566 PGOHUM00000240691 HGNC:38161 -HGNC:11547 TAF15 TATA-box binding protein associated factor 15 protein-coding gene gene with protein product Approved 17q12 17q12 "hTAFII68|RBP56|Npl3" TAF2N "TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)|TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa" "Zinc fingers RANBP2-type |RNA binding motif containing" "89|725" 1999-03-08 2001-12-07 2015-11-20 2023-01-20 8148 ENSG00000270647 OTTHUMG00000188384 uc002hkd.4 U51334 NM_139215 "CCDS32623|CCDS59279" Q92804 "8954779|9795213" MGI:1917689 RGD:1309595 TAF15 601574 361085 HGNC:11547 "ENST00000605844.6|NM_139215.3" HGNC:11547 +HGNC:11547 TAF15 TATA-box binding protein associated factor 15 protein-coding gene gene with protein product Approved 17q12 17q12 "hTAFII68|RBP56|Npl3" TAF2N "TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)|TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa" "Zinc fingers RANBP2-type |RNA binding motif containing" "89|725" 1999-03-08 2001-12-07 2015-11-20 2023-01-20 8148 ENSG00000270647 OTTHUMG00000188384 uc002hkd.4 U51334 NM_139215 "CCDS59279|CCDS32623" Q92804 "8954779|9795213" MGI:1917689 RGD:1309595 TAF15 601574 361085 HGNC:11547 "ENST00000605844.6|NM_139215.3" HGNC:11547 HGNC:21587 TAFA1 TAFA chemokine like family member 1 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 TAFA-1 FAM19A1 family with sequence similarity 19 member A1, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2023-01-20 407738 ENSG00000183662 OTTHUMG00000158745 uc003dne.4 AY325114 NM_213609 CCDS54606 Q7Z5A9 15028294 MGI:2443695 RGD:1563030 617495 HGNC:21587 "ENST00000478136.6|NM_213609.4" HGNC:21589 TAFA2 TAFA chemokine like family member 2 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 TAFA-2 FAM19A2 family with sequence similarity 19 member A2, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2023-01-20 338811 ENSG00000198673 OTTHUMG00000170207 uc001sqx.4 AY325115 NM_178539 CCDS8962 Q8N3H0 15028294 MGI:2143691 RGD:1589429 617496 HGNC:21589 "ENST00000416284.8|NM_178539.5" HGNC:21590 TAFA3 TAFA chemokine like family member 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 TAFA-3 FAM19A3 family with sequence similarity 19 member A3, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2023-01-20 284467 ENSG00000184599 OTTHUMG00000012020 uc001ecv.4 AY325119 NM_182759 "CCDS856|CCDS30806" Q7Z5A8 "15028294|25595455" MGI:3046463 RGD:1587462 617497 HGNC:21590 "ENST00000361886.4|NM_182759.3" HGNC:21591 TAFA4 TAFA chemokine like family member 4 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 TAFA-4 FAM19A4 family with sequence similarity 19 member A4, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2023-01-20 151647 ENSG00000163377 OTTHUMG00000158744 uc021xag.2 AY325117 NM_182522 CCDS2907 Q96LR4 "15028294|25109685" MGI:2444563 RGD:1597443 617498 HGNC:21591 "ENST00000295569.12|NM_182522.5" -HGNC:21592 TAFA5 TAFA chemokine like family member 5 protein-coding gene gene with protein product Approved 22q13.32 22q13.32 TAFA-5 FAM19A5 family with sequence similarity 19 member A5, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2023-01-20 25817 ENSG00000219438 OTTHUMG00000150308 uc003bio.6 AY325118 NM_015381 "CCDS46728|CCDS46729" Q7Z5A7 "15028294|18275939" MGI:2146182 RGD:1562115 617499 HGNC:21592 "ENST00000402357.6|NM_001082967.3" -HGNC:11577 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase protein-coding gene gene with protein product Approved Xq28 Xq28 "BTHS|G4.5|TAZ1" Barth syndrome "CMD3A|EFE2|EFE|TAZ" "endocardial fibroelastosis 2|cardiomyopathy, dilated 3A (X-linked)|tafazzin" 1989-05-29 2021-03-12 2021-03-12 2023-01-20 6901 ENSG00000102125 OTTHUMG00000033190 uc033fbp.2 X92762 NM_000116 "CCDS94701|CCDS14748|CCDS14750|CCDS94702|CCDS35450|CCDS14749" Q16635 8042670 MGI:109626 RGD:1588532 "TAZbase: Mutation registry for Barth syndrome|http://structure.bmc.lu.se/idbase/TAZbase/|LRG_131|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_131.xml" 300394 119930 HGNC:11577 "ENST00000601016.6|NM_000116.5" HGNC:11577 -HGNC:15669 TAGAP T cell activation RhoGTPase activating protein protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ32631|IDDM21|ARHGAP47" "T-cell activation GTPase activating protein|T-cell activation RhoGTPase activating protein" Rho GTPase activating proteins 721 2001-07-20 2017-12-06 2023-01-20 117289 ENSG00000164691 OTTHUMG00000015923 uc003qrz.5 AF385429 NM_054114 "CCDS5261|CCDS5263|CCDS5262" Q8N103 "16375659|18311140|18356936" MGI:1919786 RGD:1308618 609667 HGNC:15669 "ENST00000367066.8|NM_054114.5" +HGNC:21592 TAFA5 TAFA chemokine like family member 5 protein-coding gene gene with protein product Approved 22q13.32 22q13.32 TAFA-5 FAM19A5 family with sequence similarity 19 member A5, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2023-01-20 25817 ENSG00000219438 OTTHUMG00000150308 uc003bio.6 AY325118 NM_015381 "CCDS46729|CCDS46728" Q7Z5A7 "15028294|18275939" MGI:2146182 RGD:1562115 617499 HGNC:21592 "ENST00000402357.6|NM_001082967.3" +HGNC:11577 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase protein-coding gene gene with protein product Approved Xq28 Xq28 "BTHS|G4.5|TAZ1" Barth syndrome "CMD3A|EFE2|EFE|TAZ" "endocardial fibroelastosis 2|cardiomyopathy, dilated 3A (X-linked)|tafazzin" 1989-05-29 2021-03-12 2021-03-12 2023-01-20 6901 ENSG00000102125 OTTHUMG00000033190 uc033fbp.2 X92762 NM_000116 "CCDS14748|CCDS35450|CCDS14750|CCDS94702|CCDS14749|CCDS94701" Q16635 8042670 MGI:109626 RGD:1588532 "TAZbase: Mutation registry for Barth syndrome|http://structure.bmc.lu.se/idbase/TAZbase/|LRG_131|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_131.xml" 300394 119930 HGNC:11577 "ENST00000601016.6|NM_000116.5" HGNC:11577 +HGNC:15669 TAGAP T cell activation RhoGTPase activating protein protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ32631|IDDM21|ARHGAP47" "T-cell activation GTPase activating protein|T-cell activation RhoGTPase activating protein" Rho GTPase activating proteins 721 2001-07-20 2017-12-06 2023-01-20 117289 ENSG00000164691 OTTHUMG00000015923 uc003qrz.5 AF385429 NM_054114 "CCDS5263|CCDS5262|CCDS5261" Q8N103 "16375659|18311140|18356936" MGI:1919786 RGD:1308618 609667 HGNC:15669 "ENST00000367066.8|NM_054114.5" HGNC:55239 TAGAP-AS1 TAGAP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 Antisense RNAs 1987 2020-09-16 2020-09-16 105378083 ENSG00000271913 NR_183545 HGNC:11553 TAGLN transgelin protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "SM22|WS3-10|TAGLN1|SMCC|DKFZp686P11128|TGLN" SM22-alpha 1998-01-16 2023-05-22 6876 ENSG00000149591 OTTHUMG00000167067 uc001pqn.4 M95787 NM_001001522 CCDS8381 Q01995 "8117285|1520290" MGI:106012 RGD:3723 600818 HGNC:11553 "ENST00000392951.9|NM_003186.5" -HGNC:11554 TAGLN2 transgelin 2 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "KIAA0120|HA1756" SM22-alpha homolog 1998-09-03 2023-01-20 8407 ENSG00000158710 OTTHUMG00000022793 uc001fun.3 D21261 NM_003564 "CCDS60314|CCDS1189" P37802 9693045 MGI:1312985 RGD:1310840 604634 HGNC:11554 "ENST00000368097.9|NM_003564.3" +HGNC:11554 TAGLN2 transgelin 2 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "KIAA0120|HA1756" SM22-alpha homolog 1998-09-03 2023-01-20 8407 ENSG00000158710 OTTHUMG00000022793 uc001fun.3 D21261 NM_003564 "CCDS1189|CCDS60314" P37802 9693045 MGI:1312985 RGD:1310840 604634 HGNC:11554 "ENST00000368097.9|NM_003564.3" HGNC:21739 TAGLN2P1 transgelin 2 pseudogene 1 pseudogene pseudogene Approved 8q23.1 08q23.1 2004-11-16 2014-11-19 100418887 ENSG00000253676 OTTHUMG00000164808 NG_026067 PGOHUM00000249475 HGNC:21739 HGNC:31039 TAGLN2P2 transgelin 2 pseudogene 2 pseudogene pseudogene Approved 8p12 08p12 2004-11-16 2014-11-19 642319 NG_022383 HGNC:31039 HGNC:29868 TAGLN3 transgelin 3 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "NP25|NP22" 2004-11-16 2023-01-20 29114 ENSG00000144834 OTTHUMG00000159281 uc003dyl.4 AF303058 NM_013259 CCDS33816 Q9UI15 "8015377|11238712" MGI:1926784 RGD:69301 607953 HGNC:29868 "ENST00000478951.6|NM_001008272.2" @@ -38136,18 +38139,18 @@ HGNC:11560 TALDO1P1 transaldolase 1 pseudogene 1 pseudogene pseudogene Approved HGNC:18707 TAMALIN trafficking regulator and scaffold protein tamalin protein-coding gene gene with protein product Approved 12q13.13 12q13.13 GRASP "GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein|general receptor for phosphoinositides 1 associated scaffold protein" PDZ domain containing 1220 2002-05-30 2020-02-14 2020-02-14 2023-01-20 160622 ENSG00000161835 OTTHUMG00000169595 uc001rzo.3 AC019244 NM_001271856 "CCDS8817|CCDS61124" Q7Z6J2 10828067 MGI:1860303 RGD:70554 612027 HGNC:18707 "ENST00000293662.9|NM_181711.4" HGNC:32680 TAMALIN-AS1 TAMALIN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 "GRASPOS|GRASP-AS1" "GRP1-associated scaffold protein opposite strand|GRASP antisense RNA 1" Antisense RNAs 1987 2006-03-31 2020-02-14 2020-02-14 2020-02-14 692159 BC028005 NR_146770 HGNC:32680 HGNC:25187 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "MGC16471|DKFZp434E0519" phosphatidate cytidylyltransferase, mitochondrial C3orf31 "chromosome 3 open reading frame 31|TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)" 2005-12-22 2011-08-09 2015-09-25 2023-01-20 132001 ENSG00000144559 OTTHUMG00000129741 uc003bwh.4 NM_138807 "CCDS2607|CCDS68345|CCDS93211" Q96BW9 "16943180|19237595|29253589" MGI:1916221 RGD:1586150 614948 HGNC:25187 "ENST00000455809.6|NM_001284401.2" -HGNC:56695 TANAR TWIST1 associated long noncoding RNA regulated by androgen receptor non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Twist1 Associated Long Noncoding RNA regulated by AR Long non-coding RNAs with non-systematic symbols 1992 2023-01-13 2023-01-13 128266846 ENSG00000223991 33510354 +HGNC:56695 TANAR TWIST1 associated long noncoding RNA regulated by androgen receptor non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Twist1 Associated Long Noncoding RNA regulated by AR Long non-coding RNAs with non-systematic symbols 1992 2023-01-13 2023-01-13 128266846 ENSG00000223991 NR_186276 33510354 HGNC:29364 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "KIAA1728|ROLSB" rolling pebbles homolog B (Drosophila) "Ankyrin repeat domain containing|Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes" "403|769|1691" 2005-11-18 2023-01-20 85461 ENSG00000115183 OTTHUMG00000153945 uc002uag.4 AB051515 NM_001145909 CCDS42766 Q9C0D5 "15673434|22182840" MGI:1914110 RGD:1302949 611397 HGNC:29364 "ENST00000263635.8|NM_033394.3" -HGNC:30212 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 protein-coding gene gene with protein product Approved 17q23.2-q23.3 17q23.2-q23.3 "DKFZP564D166|FLJ10215|FLJ11824|KIAA1148|KIAA1636|rols|ROLSA" rolling pebbles homolog B (Drosophila) "Ankyrin repeat domain containing|Tetratricopeptide repeat domain containing" "403|769" 2005-11-18 2023-01-20 26115 ENSG00000170921 OTTHUMG00000179103 uc002jal.5 AB032974 NM_001394998 "CCDS92376|CCDS92375|CCDS45754" Q9HCD6 21068316 MGI:2444121 RGD:1309285 615047 HGNC:30212 "ENST00000689528.1|NM_001394998.1" HGNC:30212 -HGNC:25439 TANGO2 transport and golgi organization 2 homolog protein-coding gene gene with protein product Approved 22q11.21 22q11.21 DKFZp761P1121 C22orf25 "chromosome 22 open reading frame 25|transport and golgi organization 2 homolog (Drosophila)" MicroRNA protein coding host genes 1691 2006-02-17 2012-12-13 2015-07-03 2023-01-20 128989 ENSG00000183597 OTTHUMG00000150510 uc002zrc.3 NM_152906 "CCDS74821|CCDS13772|CCDS74822|CCDS63407|CCDS63406|CCDS63405|CCDS63404" Q6ICL3 "26805781|26805782|32909282" MGI:101825 RGD:1310348 616830 HGNC:25439 "ENST00000327374.9|NM_152906.7" HGNC:25439 +HGNC:30212 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 protein-coding gene gene with protein product Approved 17q23.2-q23.3 17q23.2-q23.3 "DKFZP564D166|FLJ10215|FLJ11824|KIAA1148|KIAA1636|rols|ROLSA" rolling pebbles homolog B (Drosophila) "Ankyrin repeat domain containing|Tetratricopeptide repeat domain containing" "403|769" 2005-11-18 2023-01-20 26115 ENSG00000170921 OTTHUMG00000179103 uc002jal.5 AB032974 NM_001394998 "CCDS45754|CCDS92376|CCDS92375" Q9HCD6 21068316 MGI:2444121 RGD:1309285 615047 HGNC:30212 "ENST00000689528.1|NM_001394998.1" HGNC:30212 +HGNC:25439 TANGO2 transport and golgi organization 2 homolog protein-coding gene gene with protein product Approved 22q11.21 22q11.21 DKFZp761P1121 C22orf25 "chromosome 22 open reading frame 25|transport and golgi organization 2 homolog (Drosophila)" MicroRNA protein coding host genes 1691 2006-02-17 2012-12-13 2015-07-03 2023-01-20 128989 ENSG00000183597 OTTHUMG00000150510 uc002zrc.3 NM_152906 "CCDS63405|CCDS63407|CCDS13772|CCDS74822|CCDS63406|CCDS63404|CCDS74821" Q6ICL3 "26805781|26805782|32909282" MGI:101825 RGD:1310348 616830 HGNC:25439 "ENST00000327374.9|NM_152906.7" HGNC:25439 HGNC:25749 TANGO6 transport and golgi organization 6 homolog protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ12688|KIAA1746" TMCO7 "transmembrane and coiled-coil domains 7|transport and golgi organization 6 homolog (Drosophila)" Armadillo like helical domain containing 1492 2006-11-17 2012-12-13 2015-07-03 2023-01-20 79613 ENSG00000103047 OTTHUMG00000176743 uc002ewi.5 NM_024562 CCDS45516 Q9C0B7 11214970 MGI:2142786 RGD:1559841 620188 HGNC:25749 "ENST00000261778.2|NM_024562.2" HGNC:11562 TANK TRAF family member associated NFKB activator protein-coding gene gene with protein product Approved 2q24.2 02q24.2 I-TRAF TRAF2 TRAF family member-associated NFKB activator 1997-06-12 2015-11-19 2023-01-20 10010 ENSG00000136560 OTTHUMG00000132037 uc002ubr.3 U59863 NM_133484 "CCDS2215|CCDS46436" Q92844 "8710854|8855313" MGI:107676 RGD:628859 603893 HGNC:11562 "ENST00000392749.7|NM_001199135.3" HGNC:40575 TANK-AS1 TANK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Antisense RNAs 1987 2020-03-27 2020-03-27 105373719 ENSG00000224467 OTTHUMG00000151886 XR_923527 HGNC:29259 TAOK1 TAO kinase 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA1361|MARKK|PSK2|MAP3K16|FLJ14314|TAO1|hTAOK1|hKFC-B" "prostate-derived sterile 20-like kinase 2|MARK kinase|thousand and one amino acid protein kinase 1" Mitogen-activated protein kinase kinase kinases 654 2004-10-20 2023-01-20 57551 ENSG00000160551 OTTHUMG00000179718 uc002hdz.3 AB037782 NM_020791 "CCDS56024|CCDS32601" Q7L7X3 "10718198|14517247" MGI:1914490 RGD:708455 610266 objectId:2233 2.7.11.1 HGNC:29259 "ENST00000261716.8|NM_020791.4" HGNC:29259 -HGNC:16835 TAOK2 TAO kinase 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "TAO1|KIAA0881|PSK|PSK1|TAO2|MAP3K17|hKFC-C|PSK-1|PSK1-BETA|Tao2beta" "Serine/threonine-protein kinase TAO2|Thousand and one amino acid protein kinase 2|Kinase from chicken homolog C|Prostate-derived sterile 20-like kinase 1" Mitogen-activated protein kinase kinase kinases 654 2004-10-20 2023-01-20 9344 ENSG00000149930 OTTHUMG00000132111 uc002dva.3 AB020688 NM_016151 "CCDS10662|CCDS58448|CCDS10663" Q9UL54 "10048485|9786855|22683681" MGI:1915919 RGD:621590 613199 471186 objectId:2234 2.7.11.1 HGNC:16835 "ENST00000308893.9|NM_016151.4" HGNC:16835 -HGNC:18133 TAOK3 TAO kinase 3 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "JIK|DPK|MAP3K18" Mitogen-activated protein kinase kinase kinases 654 2004-10-20 2023-01-20 51347 ENSG00000135090 OTTHUMG00000168875 uc001twy.4 AF135158 NM_016281 "CCDS9188|CCDS86334" Q9H2K8 "10559204|10924369" MGI:3041177 RGD:1562861 616711 objectId:2235 2.7.11.1 HGNC:18133 "ENST00000392533.8|NM_016281.4" +HGNC:16835 TAOK2 TAO kinase 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "TAO1|KIAA0881|PSK|PSK1|TAO2|MAP3K17|hKFC-C|PSK-1|PSK1-BETA|Tao2beta" "Serine/threonine-protein kinase TAO2|Thousand and one amino acid protein kinase 2|Kinase from chicken homolog C|Prostate-derived sterile 20-like kinase 1" Mitogen-activated protein kinase kinase kinases 654 2004-10-20 2023-01-20 9344 ENSG00000149930 OTTHUMG00000132111 uc002dva.3 AB020688 NM_016151 "CCDS10663|CCDS10662|CCDS58448" Q9UL54 "10048485|9786855|22683681" MGI:1915919 RGD:621590 613199 471186 objectId:2234 2.7.11.1 HGNC:16835 "ENST00000308893.9|NM_016151.4" HGNC:16835 +HGNC:18133 TAOK3 TAO kinase 3 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "JIK|DPK|MAP3K18" Mitogen-activated protein kinase kinase kinases 654 2004-10-20 2023-01-20 51347 ENSG00000135090 OTTHUMG00000168875 uc001twy.4 AF135158 NM_016281 "CCDS86334|CCDS9188" Q9H2K8 "10559204|10924369" MGI:3041177 RGD:1562861 616711 objectId:2235 2.7.11.1 HGNC:18133 "ENST00000392533.8|NM_016281.4" HGNC:43 TAP1 transporter 1, ATP binding cassette subfamily B member protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "PSF1|RING4|D6S114E" ABCB2 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ATP binding cassette subfamily B 806 1992-06-25 2016-06-21 2023-01-20 6890 ENSG00000168394 OTTHUMG00000031067 uc003ocg.4 NM_000593 CCDS4758 Q03518 "1529427|1946428" MGI:98483 RGD:3817 "TAP1base: Mutation registry for TAP1 deficiency|http://structure.bmc.lu.se/idbase/TAP1base/|IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/|LRG_166|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_166.xml" 170260 123369 objectId:769 HGNC:43 "ENST00000354258.5|NM_000593.6" HGNC:43 -HGNC:44 TAP2 transporter 2, ATP binding cassette subfamily B member protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "PSF2|RING11|D6S217E" ABCB3 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ATP binding cassette subfamily B 806 1992-06-25 2016-06-21 2023-01-20 6891 ENSG00000204267 OTTHUMG00000031068 uc063nrw.1 M74447 NM_000544 "CCDS4755|CCDS78129" Q03519 "1529427|1946428|16395595" MGI:98484 RGD:3818 "TAP2base: Mutation registry for TAP2 deficiency|http://structure.bmc.lu.se/idbase/TAP2base/|IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/|LRG_167|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_167.xml" 170261 119922 objectId:770 HGNC:44 "ENST00000374897.4|NM_001290043.2" HGNC:44 +HGNC:44 TAP2 transporter 2, ATP binding cassette subfamily B member protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "PSF2|RING11|D6S217E" ABCB3 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ATP binding cassette subfamily B 806 1992-06-25 2016-06-21 2023-01-20 6891 ENSG00000204267 OTTHUMG00000031068 uc063nrw.1 M74447 NM_000544 "CCDS78129|CCDS4755" Q03519 "1529427|1946428|16395595" MGI:98484 RGD:3818 "TAP2base: Mutation registry for TAP2 deficiency|http://structure.bmc.lu.se/idbase/TAP2base/|IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/|LRG_167|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_167.xml" 170261 119922 objectId:770 HGNC:44 "ENST00000374897.4|NM_001290043.2" HGNC:44 HGNC:11566 TAPBP TAP binding protein protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "TAPA|TPN|TPSN|NGS17" tapasin TAP binding protein (tapasin) C1-set domain containing 591 1997-12-17 2016-08-10 2023-05-23 6892 ENSG00000231925 OTTHUMG00000031090 uc063uwb.1 Y13582 NM_001410875 "CCDS34428|CCDS93889|CCDS34426|CCDS34427" O15533 9238042 MGI:1201689 RGD:3819 "TAPBPbase: Mutation registry for Tapasin deficiency|http://structure.bmc.lu.se/idbase/TAPBPbase/|LRG_114|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_114.xml" 601962 123371 HGNC:11566 "ENST00000434618.7|NM_003190.5" HGNC:11566 HGNC:30683 TAPBPL TAP binding protein like protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "TAPBP-R|FLJ10143|TAPBPR" TAP binding protein-like C1-set domain containing 591 2004-05-12 2016-03-11 2023-01-20 55080 ENSG00000139192 OTTHUMG00000168317 uc001qog.5 AK001005 NM_018009 CCDS8546 Q9BX59 11920573 MGI:2384853 RGD:1307893 607081 HGNC:30683 "ENST00000266556.8|NM_018009.5" HGNC:26887 TAPT1 transmembrane anterior posterior transformation 1 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 FLJ90013 2007-02-02 2023-01-20 202018 ENSG00000169762 OTTHUMG00000160177 uc010ied.2 AK074494 NM_153365 CCDS47030 Q6NXT6 17151244 MGI:2683537 RGD:1309656 612758 460737 HGNC:26887 "ENST00000405303.7|NM_153365.3" HGNC:26887 @@ -38163,9 +38166,9 @@ HGNC:55123 TARDBPP4 TARDBP pseudogene 4 pseudogene pseudogene Approved 8q12.3 08 HGNC:55124 TARDBPP5 TARDBP pseudogene 5 pseudogene pseudogene Approved 6q16.3 06q16.3 2020-06-30 2020-06-30 100996860 PGOHUM00000301491 HGNC:50506 TARID TCF21 antisense RNA inducing promoter demethylation non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 EYA4-AS1 EYA4 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2014-05-13 2014-08-20 2014-08-20 2018-09-12 100507308 ENSG00000227954 OTTHUMG00000015607 NR_109982 25087872 616058 TARID HGNC:50506 HGNC:37250 TARM1 T cell-interacting, activating receptor on myeloid cells 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Immunoglobulin like domain containing 594 2009-12-14 2017-12-06 2023-01-20 441864 ENSG00000248385 OTTHUMG00000064912 uc010yei.1 NM_001135686 "CCDS46173|CCDS82395" B6A8C7 MGI:2442280 RGD:1564272 616802 HGNC:37250 "ENST00000432826.2|NM_001135686.3" -HGNC:11572 TARS1 threonyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 threonine tRNA ligase 1, cytoplasmic TARS threonyl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 2001-06-22 2019-07-15 2019-07-15 2023-01-20 6897 ENSG00000113407 OTTHUMG00000090683 uc003jhy.5 AK095852 NM_152295 "CCDS3899|CCDS58943" P26639 MGI:106314 RGD:1359527 187790 6.1.1.3 HGNC:11572 "ENST00000265112.8|NM_152295.5" HGNC:11572 +HGNC:11572 TARS1 threonyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 threonine tRNA ligase 1, cytoplasmic TARS threonyl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 2001-06-22 2019-07-15 2019-07-15 2023-01-20 6897 ENSG00000113407 OTTHUMG00000090683 uc003jhy.5 AK095852 NM_152295 "CCDS58943|CCDS3899" P26639 MGI:106314 RGD:1359527 187790 6.1.1.3 HGNC:11572 "ENST00000265112.8|NM_152295.5" HGNC:11572 HGNC:55565 TARS1-DT TARS1 divergent transcript non-coding RNA RNA, long non-coding Approved 5p13.3 05p13.3 Divergent transcripts 1990 2021-04-14 2021-04-14 107986411 ENSG00000249572 XR_001742630 -HGNC:30740 TARS2 threonyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1q21.2 01q21.2 FLJ12528 threonine tRNA ligase 2, mitochondrial TARSL1 threonyl-tRNA synthetase-like 1 "Aminoacyl tRNA synthetases, Class II|MicroRNA protein coding host genes" "132|1691" 2004-11-10 2007-02-23 2017-12-12 2023-01-20 80222 ENSG00000143374 OTTHUMG00000012809 uc001euq.5 BC007824 NM_025150 "CCDS60252|CCDS60251|CCDS952" Q9BW92 26811336 MGI:1919057 RGD:1308283 612805 432060 6.1.1.3 HGNC:30740 "ENST00000369064.8|NM_025150.5" HGNC:30740 +HGNC:30740 TARS2 threonyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1q21.2 01q21.2 FLJ12528 threonine tRNA ligase 2, mitochondrial TARSL1 threonyl-tRNA synthetase-like 1 "Aminoacyl tRNA synthetases, Class II|MicroRNA protein coding host genes" "132|1691" 2004-11-10 2007-02-23 2017-12-12 2023-01-20 80222 ENSG00000143374 OTTHUMG00000012809 uc001euq.5 BC007824 NM_025150 "CCDS952|CCDS60251|CCDS60252" Q9BW92 26811336 MGI:1919057 RGD:1308283 612805 432060 6.1.1.3 HGNC:30740 "ENST00000369064.8|NM_025150.5" HGNC:30740 HGNC:43712 TARS2P1 TARS2 pseudogene 1 pseudogene pseudogene Approved 4q28.3 04q28.3 "threonyl-tRNA synthetase 2, mitochondrial pseudogene|threonyl-tRNA synthetase 2, mitochondrial (putative) pseudogene 1" 2012-02-02 2018-07-18 2018-07-18 100533844 ENSG00000248104 OTTHUMG00000161214 NG_028840 PGOHUM00000245702 HGNC:43712 HGNC:24728 TARS3 threonyl-tRNA synthetase 3 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "FLJ25005|ThrRS-L" TARSL2 threonyl-tRNA synthetase like 2 2004-11-10 2019-08-08 2019-08-08 2023-01-20 123283 ENSG00000185418 OTTHUMG00000149869 uc002bxm.4 AL833188 NM_152334 CCDS10394 A2RTX5 "24312579|31287872|29579307" MGI:2444486 RGD:1311308 HGNC:24728 "ENST00000335968.8|NM_152334.3" HGNC:14448 TAS1R1 taste 1 receptor member 1 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "T1R1|TR1" GPR70 "G protein-coupled receptor 70|taste receptor, type 1, member 1" Taste 1 receptors 1161 2001-03-21 2015-12-16 2023-03-15 80835 ENSG00000173662 OTTHUMG00000001441 uc001ant.4 NM_138697 "CCDS82|CCDS81" Q7RTX1 "12856281|11894099" MGI:1927505 RGD:61891 606225 objectId:656 HGNC:14448 "ENST00000333172.11|NM_138697.4" @@ -38211,25 +38214,25 @@ HGNC:20642 TAS2R64P taste 2 receptor member 64 pseudogene pseudogene pseudogene HGNC:43898 TAS2R67P taste 2 receptor member 67 pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 taste receptor, type 2, member 67 pseudogene Taste 2 receptors 1162 2012-04-27 2015-12-16 2015-12-16 448991 NG_004701 PGOHUM00000291239 HGNC:43898 HGNC:43905 TAS2R68P taste 2 receptor member 68 pseudogene pseudogene pseudogene Approved 12 alternate reference locus 12 alternate reference locus "T2R68P|PS7" taste receptor, type 2, member 68 pseudogene Taste 2 receptors 1162 2012-05-01 2015-12-16 2020-04-20 100653053 "AB199304|BK001064|AY724934" NG_004699 "15744053|15496549|12679530" HGNC:25667 TASL TLR adaptor interacting with endolysosomal SLC15A4 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 FLJ11577 TLR adaptor interacting with SLC15A4 on the lysosome CXorf21 chromosome X open reading frame 21 2004-06-02 2020-07-02 2020-07-02 2023-01-20 80231 ENSG00000120280 OTTHUMG00000021325 uc004dcg.3 BC020611 NM_025159 CCDS14224 Q9HAI6 "31001245|31092820|32433612" MGI:1918648 RGD:1565785 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf21 301049 HGNC:25667 "ENST00000378962.4|NM_025159.3" -HGNC:30314 TASOR transcription activation suppressor protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "se89-1|RAP140|KIAA1105|TASOR1" transgene activation suppressor "C3orf63|FAM208A" "chromosome 3 open reading frame 63|family with sequence similarity 208, member A|family with sequence similarity 208 member A" 2006-02-10 2018-12-20 2018-12-20 2023-01-20 23272 ENSG00000163946 OTTHUMG00000158827 uc003dic.5 AF180425 NM_015224 "CCDS2877|CCDS93292|CCDS46853|CCDS87094" Q9UK61 "26022416|26853531|33009411" MGI:1921694 RGD:1595469 616493 HGNC:30314 "ENST00000683822.1|NM_001365635.2" -HGNC:23484 TASOR2 transcription activation suppressor family member 2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "FLJ20360|bA318E3.2|KIAA2006" "C10orf18|FAM208B" "chromosome 10 open reading frame 18|family with sequence similarity 208, member B|family with sequence similarity 208 member B" 2004-05-27 2018-12-20 2018-12-20 2023-01-20 54906 ENSG00000108021 OTTHUMG00000017605 uc001iij.3 BX649177 NM_017782 "CCDS91208|CCDS91209|CCDS41485" Q5VWN6 12477932 MGI:2145274 RGD:1564456 HGNC:23484 "ENST00000695737.1|NM_001321783.2" +HGNC:30314 TASOR transcription activation suppressor protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "se89-1|RAP140|KIAA1105|TASOR1" transgene activation suppressor "C3orf63|FAM208A" "chromosome 3 open reading frame 63|family with sequence similarity 208, member A|family with sequence similarity 208 member A" 2006-02-10 2018-12-20 2018-12-20 2023-01-20 23272 ENSG00000163946 OTTHUMG00000158827 uc003dic.5 AF180425 NM_015224 "CCDS93292|CCDS46853|CCDS2877|CCDS87094" Q9UK61 "26022416|26853531|33009411" MGI:1921694 RGD:1595469 616493 HGNC:30314 "ENST00000683822.1|NM_001365635.2" +HGNC:23484 TASOR2 transcription activation suppressor family member 2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "FLJ20360|bA318E3.2|KIAA2006" "C10orf18|FAM208B" "chromosome 10 open reading frame 18|family with sequence similarity 208, member B|family with sequence similarity 208 member B" 2004-05-27 2018-12-20 2018-12-20 2023-01-20 54906 ENSG00000108021 OTTHUMG00000017605 uc001iij.3 BX649177 NM_017782 "CCDS41485|CCDS91208|CCDS91209" Q5VWN6 12477932 MGI:2145274 RGD:1564456 HGNC:23484 "ENST00000695737.1|NM_001321783.2" HGNC:15859 TASP1 taspase 1 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "FLJ20212|dJ585I14.2" threonine aspartase C20orf13 chromosome 20 open reading frame 13 2001-06-21 2005-10-15 2015-11-13 2023-01-20 55617 ENSG00000089123 OTTHUMG00000031904 uc002woi.4 AK000219 NM_017714 CCDS13116 Q9H6P5 "14636557|27308523" MGI:1923062 RGD:1308591 608270 T02.004 objectId:2419 3.4.25.- HGNC:15859 "ENST00000337743.9|NM_017714.3" HGNC:15859 HGNC:11573 TAT tyrosine aminotransferase protein-coding gene gene with protein product Approved 16q22.2 16q22.2 2001-06-22 2023-01-20 6898 ENSG00000198650 OTTHUMG00000137590 uc002fap.3 NM_000353 CCDS10903 P17735 MGI:98487 RGD:3820 613018 119928 objectId:2527 2.6.1.5 HGNC:11573 "ENST00000355962.5|NM_000353.3" HGNC:11573 HGNC:51369 TAT-AS1 TAT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q22.2 16q22.2 Antisense RNAs 1987 2014-10-16 2014-10-16 100132529 ENSG00000260886 OTTHUMG00000176800 "HY017421|BU568247|BM853033" NR_103851 TAT-AS1 HGNC:51369 -HGNC:24220 TATDN1 TatD DNase domain containing 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 CDA11 MicroRNA protein coding host genes 1691 2004-06-07 2023-01-20 83940 ENSG00000147687 OTTHUMG00000165068 uc003yrd.4 AF212250 NM_032026 "CCDS6351|CCDS55273|CCDS83323" Q6P1N9 23187801 MGI:1916944 RGD:1585145 619364 HGNC:24220 "ENST00000276692.11|NM_032026.4" +HGNC:24220 TATDN1 TatD DNase domain containing 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 CDA11 MicroRNA protein coding host genes 1691 2004-06-07 2023-01-20 83940 ENSG00000147687 OTTHUMG00000165068 uc003yrd.4 AF212250 NM_032026 "CCDS55273|CCDS83323|CCDS6351" Q6P1N9 23187801 MGI:1916944 RGD:1585145 619364 HGNC:24220 "ENST00000276692.11|NM_032026.4" HGNC:45058 TATDN1P1 TatD DNase domain containing 1 pseudogene 1 pseudogene pseudogene Approved 10q21.3 10q21.3 2013-02-07 2013-02-07 728737 ENSG00000234369 OTTHUMG00000018312 NG_011726 PGOHUM00000238810 HGNC:45058 HGNC:28988 TATDN2 TatD DNase domain containing 2 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 KIAA0218 2004-06-07 2023-01-20 9797 ENSG00000157014 OTTHUMG00000155361 uc011atr.3 D86972 NM_014760 CCDS33698 Q93075 9039502 MGI:3576210 RGD:1586017 619330 HGNC:28988 "ENST00000448281.7|NM_014760.4" HGNC:39254 TATDN2P1 TatD DNase domain containing 2 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2010-11-24 2010-11-24 100131103 ENSG00000198414 OTTHUMG00000021392 NG_011742 PGOHUM00000241726 HGNC:39254 HGNC:39255 TATDN2P2 TatD DNase domain containing 2 pseudogene 2 pseudogene pseudogene Approved 6q25.3 06q25.3 2010-11-24 2010-11-24 100272205 ENSG00000218226 OTTHUMG00000015912 NG_011739 PGOHUM00000243432 HGNC:39255 HGNC:39256 TATDN2P3 TatD DNase domain containing 2 pseudogene 3 pseudogene pseudogene Approved 13q12.12 13q12.12 2010-11-24 2010-11-24 100420458 ENSG00000235205 OTTHUMG00000016560 NG_024898 PGOHUM00000248529 HGNC:39256 -HGNC:27010 TATDN3 TatD DNase domain containing 3 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 2005-07-14 2023-01-20 128387 ENSG00000203705 OTTHUMG00000036805 uc001hjo.3 AL832248 NM_001042552 "CCDS53475|CCDS53476|CCDS86050|CCDS31019|CCDS41465|CCDS53477" Q17R31 MGI:1916222 RGD:1589779 HGNC:27010 "ENST00000366974.9|NM_001042552.3" +HGNC:27010 TATDN3 TatD DNase domain containing 3 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 2005-07-14 2023-01-20 128387 ENSG00000203705 OTTHUMG00000036805 uc001hjo.3 AL832248 NM_001042552 "CCDS53477|CCDS53476|CCDS86050|CCDS41465|CCDS53475|CCDS31019" Q17R31 MGI:1916222 RGD:1589779 HGNC:27010 "ENST00000366974.9|NM_001042552.3" HGNC:11575 TAX1BP1 Tax1 binding protein 1 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "TXBP151|CALCOCO3" Tax1 (human T-cell leukemia virus type I) binding protein 1 1999-06-10 2016-03-15 2023-01-20 8887 ENSG00000106052 OTTHUMG00000023377 uc003szl.4 U33821 NM_006024 "CCDS43561|CCDS56471|CCDS5415" Q86VP1 10435631 MGI:1289308 RGD:708579 605326 HGNC:11575 "ENST00000396319.7|NM_006024.7" HGNC:40576 TAX1BP1-AS1 TAX1BP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 Antisense RNAs 1987 2020-03-27 2020-03-27 105375210 ENSG00000229893 OTTHUMG00000152710 XR_927138 HGNC:30684 TAX1BP3 Tax1 binding protein 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 TIP-1 Tax interaction protein 1 Tax1 (human T-cell leukemia virus type I) binding protein 3 PDZ domain containing 1220 2004-06-15 2016-02-17 2023-01-20 30851 ENSG00000213977 OTTHUMG00000090701 uc002fwc.4 AF028823 NM_014604 "CCDS11032|CCDS73940" O14907 "8619474|10673275" MGI:1923531 RGD:1308924 616484 HGNC:30684 "ENST00000225525.4|NM_014604.4" HGNC:23511 TBATA thymus, brain and testes associated protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "FLJ32820|spatial" C10orf27 chromosome 10 open reading frame 27 2003-11-21 2012-05-23 2012-05-23 2023-01-20 219793 ENSG00000166220 OTTHUMG00000018413 uc001jrj.1 AK057382 NM_152710 "CCDS7308|CCDS81471|CCDS91256" Q96M53 20937703 MGI:1923820 RGD:1561665 612640 HGNC:23511 "ENST00000456372.4|NM_001318241.2" -HGNC:11578 TBC1D1 TBC1 domain family member 1 protein-coding gene gene with protein product Approved 4p14 04p14 "TBC|TBC1|KIAA1108" "TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1|TBC1 domain family, member 1" 2000-03-06 2015-11-18 2023-01-20 23216 ENSG00000065882 OTTHUMG00000150302 uc003gtb.4 AB029031 NM_015173 "CCDS58897|CCDS93491|CCDS33972" Q86TI0 "10965142|18258599" MGI:1889508 RGD:1304562 609850 HGNC:11578 "ENST00000698857.1|NM_001396959.1" -HGNC:18026 TBC1D2 TBC1 domain family member 2 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "PARIS1|TBC1D2A|Armus" prostate antigen recognized and identified by SEREX TBC1 domain family, member 2 MicroRNA protein coding host genes 1691 2002-02-15 2015-11-18 2023-01-20 55357 ENSG00000095383 OTTHUMG00000020343 uc011lvb.3 AY026527 NM_018421 "CCDS35080|CCDS75865|CCDS59137|CCDS94445" Q9BYX2 MGI:2652885 RGD:1306860 609871 HGNC:18026 "ENST00000465784.7|NM_001267571.2" -HGNC:29183 TBC1D2B TBC1 domain family member 2B protein-coding gene gene with protein product Approved 15q24.3-q25.1 15q24.3-q25.1 KIAA1055 TBC1 domain family, member 2B 2005-11-29 2015-11-18 2023-01-20 23102 ENSG00000167202 OTTHUMG00000152885 uc010bla.4 AB028978 NM_015079 "CCDS32301|CCDS45314" Q9UPU7 10470851 MGI:1914266 RGD:1307436 619152 HGNC:29183 "ENST00000300584.8|NM_144572.2" +HGNC:11578 TBC1D1 TBC1 domain family member 1 protein-coding gene gene with protein product Approved 4p14 04p14 "TBC|TBC1|KIAA1108" "TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1|TBC1 domain family, member 1" 2000-03-06 2015-11-18 2023-01-20 23216 ENSG00000065882 OTTHUMG00000150302 uc003gtb.4 AB029031 NM_015173 "CCDS93491|CCDS58897|CCDS33972" Q86TI0 "10965142|18258599" MGI:1889508 RGD:1304562 609850 HGNC:11578 "ENST00000698857.1|NM_001396959.1" +HGNC:18026 TBC1D2 TBC1 domain family member 2 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "PARIS1|TBC1D2A|Armus" prostate antigen recognized and identified by SEREX TBC1 domain family, member 2 MicroRNA protein coding host genes 1691 2002-02-15 2015-11-18 2023-01-20 55357 ENSG00000095383 OTTHUMG00000020343 uc011lvb.3 AY026527 NM_018421 "CCDS59137|CCDS94445|CCDS75865|CCDS35080" Q9BYX2 MGI:2652885 RGD:1306860 609871 HGNC:18026 "ENST00000465784.7|NM_001267571.2" +HGNC:29183 TBC1D2B TBC1 domain family member 2B protein-coding gene gene with protein product Approved 15q24.3-q25.1 15q24.3-q25.1 KIAA1055 TBC1 domain family, member 2B 2005-11-29 2015-11-18 2023-01-20 23102 ENSG00000167202 OTTHUMG00000152885 uc010bla.4 AB028978 NM_015079 "CCDS45314|CCDS32301" Q9UPU7 10470851 MGI:1914266 RGD:1307436 619152 HGNC:29183 "ENST00000300584.8|NM_144572.2" HGNC:19031 TBC1D3 TBC1 domain family member 3 protein-coding gene gene with protein product Approved 17q12 17q12 "TBC1D3A|DKFZp434P2235|PRC17" prostate cancer gene 17 TBC1 domain family, member 3 2003-05-29 2015-11-18 2023-01-20 729873 ENSG00000274611 OTTHUMG00000188487 uc032fha.2 NM_001123391 CCDS45658 Q8IZP1 "12604796|12359748|16863688" 607741 HGNC:19031 "ENST00000620215.3|NM_001123391.4" HGNC:27011 TBC1D3B TBC1 domain family member 3B protein-coding gene gene with protein product Approved 17q12 17q12 PRC17 TBC1D3I "TBC1 domain family, member 3I|TBC1 domain family, member 3B" 2005-04-28 2015-11-18 2023-01-20 414059 ENSG00000274808 OTTHUMG00000188417 uc060efr.1 AF540953 NM_001001417 CCDS42300 A6NDS4 "12359748|16863688" 610144 HGNC:27011 "ENST00000611257.5|NM_001001417.7" HGNC:24889 TBC1D3C TBC1 domain family member 3C protein-coding gene gene with protein product Approved 17q12 17q12 MGC44903 TBC1 domain family, member 3C 2005-04-28 2015-11-18 2023-01-20 414060 ENSG00000278299 OTTHUMG00000188484 uc032ffp.2 BC033670 NM_001001418 CCDS74045 Q6IPX1 "12359748|16863688" 610806 HGNC:24889 "ENST00000622206.2|NM_001001418.6" @@ -38250,27 +38253,27 @@ HGNC:32409 TBC1D3P4 TBC1 domain family member 3 pseudogene 4 pseudogene pseudoge HGNC:43567 TBC1D3P5 TBC1 domain family member 3 pseudogene 5 pseudogene pseudogene Approved 17q11.2 17q11.2 TBC1 domain family, member 3 pseudogene 5 2011-11-08 2015-11-18 2016-10-05 440419 ENSG00000266433 OTTHUMG00000179156 NR_033892 HGNC:43567 HGNC:43568 TBC1D3P6 TBC1 domain family member 3 pseudogene 6 pseudogene pseudogene Approved 1p36.13 01p36.13 TBC1 domain family, member 3 pseudogene 6 2011-11-08 2015-11-18 2015-11-18 101928566 ENSG00000224966 OTTHUMG00000009379 PGOHUM00000296229 HGNC:43568 HGNC:43569 TBC1D3P7 TBC1 domain family member 3 pseudogene 7 pseudogene pseudogene Approved 17q21.2 17q21.2 TBC1 domain family, member 3 pseudogene 7 2011-11-08 2015-11-18 2015-11-18 106480773 ENSG00000233014 OTTHUMG00000133669 NG_045655 HGNC:43569 -HGNC:19165 TBC1D4 TBC1 domain family member 4 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 "KIAA0603|AS160|DKFZp779C0666" Akt substrate of 160 kDa TBC1 domain family, member 4 2002-08-29 2015-11-18 2023-01-20 9882 ENSG00000136111 OTTHUMG00000017088 uc001vjl.3 AB011175 NM_014832 "CCDS66563|CCDS66564|CCDS41901" O60343 "11829485|11994271|15304337" MGI:2429660 RGD:1561609 612465 478194 HGNC:19165 "ENST00000377636.8|NM_014832.5" +HGNC:19165 TBC1D4 TBC1 domain family member 4 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 "KIAA0603|AS160|DKFZp779C0666" Akt substrate of 160 kDa TBC1 domain family, member 4 2002-08-29 2015-11-18 2023-01-20 9882 ENSG00000136111 OTTHUMG00000017088 uc001vjl.3 AB011175 NM_014832 "CCDS41901|CCDS66563|CCDS66564" O60343 "11829485|11994271|15304337" MGI:2429660 RGD:1561609 612465 478194 HGNC:19165 "ENST00000377636.8|NM_014832.5" HGNC:19166 TBC1D5 TBC1 domain family member 5 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 KIAA0210 TBC1 domain family, member 5 2002-08-29 2015-11-18 2023-01-20 9779 ENSG00000131374 OTTHUMG00000155488 uc003cbf.3 D86965 NM_014744 "CCDS33714|CCDS46770" Q92609 19531583 MGI:1919488 RGD:1561626 615740 HGNC:19166 "ENST00000696125.1|NM_001349074.2" -HGNC:21066 TBC1D7 TBC1 domain family member 7 protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "dJ257A7.3|FLJ32666|TBC7" "TS complex subunit 3|Tre2-Bub2-Cdc16 Domain Family Member 7|TBC domain family 7" TBC1 domain family, member 7 TSC complex 1497 2003-05-14 2015-11-18 2023-03-15 51256 ENSG00000145979 OTTHUMG00000014272 uc063lxp.1 AF151073 NM_016495 "CCDS83062|CCDS58995|CCDS47376" Q9P0N9 "11042152|17646400|24515783|26893383" MGI:1914296 612655 371601 HGNC:21066 "ENST00000379300.8|NM_016495.6" HGNC:21066 -HGNC:17791 TBC1D8 TBC1 domain family member 8 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "HBLP1|VRP|AD3|GRAMD8" "BUB2-like protein 1|vascular Rab-GAP/TBC-containing protein" TBC1 domain family, member 8 (with GRAM domain) GRAM domain containing 1146 2003-05-19 2015-11-17 2023-01-20 11138 ENSG00000204634 OTTHUMG00000153040 uc010fiv.4 AB024057 NM_007063 "CCDS46375|CCDS82486" O95759 10373574 MGI:1927225 RGD:1595491 HGNC:17791 "ENST00000409318.2|NM_001330348.2" +HGNC:21066 TBC1D7 TBC1 domain family member 7 protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "dJ257A7.3|FLJ32666|TBC7" "TS complex subunit 3|Tre2-Bub2-Cdc16 Domain Family Member 7|TBC domain family 7" TBC1 domain family, member 7 TSC complex 1497 2003-05-14 2015-11-18 2023-03-15 51256 ENSG00000145979 OTTHUMG00000014272 uc063lxp.1 AF151073 NM_016495 "CCDS47376|CCDS58995|CCDS83062" Q9P0N9 "11042152|17646400|24515783|26893383" MGI:1914296 612655 371601 HGNC:21066 "ENST00000379300.8|NM_016495.6" HGNC:21066 +HGNC:17791 TBC1D8 TBC1 domain family member 8 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "HBLP1|VRP|AD3|GRAMD8" "BUB2-like protein 1|vascular Rab-GAP/TBC-containing protein" TBC1 domain family, member 8 (with GRAM domain) GRAM domain containing 1146 2003-05-19 2015-11-17 2023-01-20 11138 ENSG00000204634 OTTHUMG00000153040 uc010fiv.4 AB024057 NM_007063 "CCDS82486|CCDS46375" O95759 10373574 MGI:1927225 RGD:1595491 HGNC:17791 "ENST00000409318.2|NM_001330348.2" HGNC:52782 TBC1D8-AS1 TBC1D8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 TBC1 domain family member 8 antisense RNA 1 Antisense RNAs 1987 2016-12-09 2019-12-13 2019-12-13 100506286 ENSG00000272902 OTTHUMG00000186030 NR_135594 HGNC:52782 HGNC:24715 TBC1D8B TBC1 domain family member 8B protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "FLJ20298|RP11-321G1.1|GRAMD8B" TBC1 domain family, member 8B (with GRAM domain) "EF-hand domain containing|GRAM domain containing" "863|1146" 2006-07-12 2015-11-17 2023-01-20 54885 ENSG00000133138 OTTHUMG00000022152 uc004emo.4 AK123957 NM_017752 "CCDS14522|CCDS14523" Q0IIM8 8889548 MGI:1918101 RGD:1563084 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TBC1D8B 301027 HGNC:24715 "ENST00000357242.10|NM_017752.3" HGNC:24715 HGNC:21710 TBC1D9 TBC1 domain family member 9 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "KIAA0882|MDR1|GRAMD9" TBC1 domain family, member 9 (with GRAM domain) "EF-hand domain containing|GRAM domain containing" "863|1146" 2006-01-17 2015-11-17 2023-01-20 23158 ENSG00000109436 OTTHUMG00000161405 uc010ioj.4 AB020689 NM_015130 CCDS47136 Q6ZT07 12970790 MGI:1918560 RGD:1308221 618035 HGNC:21710 "ENST00000442267.3|NM_015130.3" -HGNC:29097 TBC1D9B TBC1 domain family member 9B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "KIAA0676|GRAMD9B" TBC1 domain family, member 9B (with GRAM domain) "EF-hand domain containing|GRAM domain containing" "863|1146" 2006-07-12 2015-11-17 2023-01-20 23061 ENSG00000197226 OTTHUMG00000130911 uc003mli.4 AB014576 NM_015043 "CCDS4450|CCDS43408" Q66K14 9734811 MGI:1924045 RGD:1310147 618039 HGNC:29097 "ENST00000355235.8|NM_015043.4" +HGNC:29097 TBC1D9B TBC1 domain family member 9B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "KIAA0676|GRAMD9B" TBC1 domain family, member 9B (with GRAM domain) "EF-hand domain containing|GRAM domain containing" "863|1146" 2006-07-12 2015-11-17 2023-01-20 23061 ENSG00000197226 OTTHUMG00000130911 uc003mli.4 AB014576 NM_015043 "CCDS43408|CCDS4450" Q66K14 9734811 MGI:1924045 RGD:1310147 618039 HGNC:29097 "ENST00000355235.8|NM_015043.4" HGNC:23609 TBC1D10A TBC1 domain family member 10A protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "EPI64|AC004997.C22.2" EBP50-PDZ interactor of 64 kD TBC1D10 "TBC1 domain family, member 10|TBC1 domain family, member 10A" 2004-01-05 2005-03-10 2015-11-18 2023-01-20 83874 ENSG00000099992 OTTHUMG00000150924 uc003ahk.5 AF331038 NM_031937 "CCDS13874|CCDS56227" Q9BXI6 "11285285|20404108" MGI:2144164 RGD:1311641 610020 HGNC:23609 "ENST00000215790.12|NM_031937.3" HGNC:24510 TBC1D10B TBC1 domain family member 10B protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "DKFZP434P1750|Rab27A-GAPbeta|FLJ13130|EPI64B" TBC1 domain family, member 10B 2005-03-10 2015-11-18 2023-01-20 26000 ENSG00000169221 OTTHUMG00000132396 uc002dxu.3 BC063112 NM_015527 CCDS10676 Q4KMP7 20404108 MGI:1915699 RGD:1309191 613620 HGNC:24510 "ENST00000409939.8|NM_015527.4" -HGNC:24702 TBC1D10C TBC1 domain family member 10C protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "FLJ00332|Carabin|EPI64C" TBC1 domain family, member 10C 2005-03-10 2015-11-18 2023-01-20 374403 ENSG00000175463 OTTHUMG00000167139 uc058eft.1 BC035630 NM_198517 "CCDS8162|CCDS58150" Q8IV04 "17230191|20404108" MGI:1922072 RGD:1311490 610831 HGNC:24702 "ENST00000542590.2|NM_001369496.1" +HGNC:24702 TBC1D10C TBC1 domain family member 10C protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "FLJ00332|Carabin|EPI64C" TBC1 domain family, member 10C 2005-03-10 2015-11-18 2023-01-20 374403 ENSG00000175463 OTTHUMG00000167139 uc058eft.1 BC035630 NM_198517 "CCDS58150|CCDS8162" Q8IV04 "17230191|20404108" MGI:1922072 RGD:1311490 610831 HGNC:24702 "ENST00000542590.2|NM_001369496.1" HGNC:29082 TBC1D12 TBC1 domain family member 12 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 KIAA0608 TBC1 domain family, member 12 2004-05-27 2015-11-18 2023-01-20 23232 ENSG00000108239 OTTHUMG00000018794 uc001kjr.3 AB011180 NM_015188 CCDS41553 O60347 9628581 MGI:2384803 RGD:9377071 620003 HGNC:29082 "ENST00000225235.5|NM_015188.2" HGNC:25571 TBC1D13 TBC1 domain family member 13 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 FLJ10743 TBC1 domain family, member 13 2004-01-06 2015-11-18 2023-01-20 54662 ENSG00000107021 OTTHUMG00000020760 uc010myj.5 AK001605 NM_018201 "CCDS6911|CCDS69677" Q9NVG8 22762500 MGI:2385326 RGD:1591937 616218 HGNC:25571 "ENST00000372648.10|NM_018201.5" -HGNC:29246 TBC1D14 TBC1 domain family member 14 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 KIAA1322 TBC1 domain family, member 14 2004-01-30 2015-11-18 2023-01-20 57533 ENSG00000132405 OTTHUMG00000090493 uc011bwg.2 AL833868 NM_020773 "CCDS3394|CCDS47006|CCDS75104|CCDS82909" Q9P2M4 "10718198|26711178" MGI:1098708 RGD:1309993 614855 HGNC:29246 "ENST00000409757.9|NM_020773.3" +HGNC:29246 TBC1D14 TBC1 domain family member 14 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 KIAA1322 TBC1 domain family, member 14 2004-01-30 2015-11-18 2023-01-20 57533 ENSG00000132405 OTTHUMG00000090493 uc011bwg.2 AL833868 NM_020773 "CCDS3394|CCDS82909|CCDS75104|CCDS47006" Q9P2M4 "10718198|26711178" MGI:1098708 RGD:1309993 614855 HGNC:29246 "ENST00000409757.9|NM_020773.3" HGNC:25694 TBC1D15 TBC1 domain family member 15 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "FLJ12085|DKFZp761D0223" TBC1 domain family, member 15 2004-02-04 2015-11-18 2023-03-15 64786 ENSG00000121749 OTTHUMG00000158553 uc001swv.4 AL157464 NM_022771 "CCDS31858|CCDS53814" Q8TC07 16055087 MGI:1913937 RGD:1307920 612662 HGNC:25694 "ENST00000485960.7|NM_001146213.3" -HGNC:28356 TBC1D16 TBC1 domain family member 16 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC25062|FLJ20748" TBC1 domain family, member 16 2004-02-04 2015-11-18 2023-01-20 125058 ENSG00000167291 OTTHUMG00000177489 uc002jxj.5 AL157485 NM_019020 "CCDS11766|CCDS62352|CCDS62353|CCDS62351" Q8TBP0 23019362 MGI:2652878 RGD:1588560 616637 HGNC:28356 "ENST00000310924.7|NM_019020.4" +HGNC:28356 TBC1D16 TBC1 domain family member 16 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC25062|FLJ20748" TBC1 domain family, member 16 2004-02-04 2015-11-18 2023-01-20 125058 ENSG00000167291 OTTHUMG00000177489 uc002jxj.5 AL157485 NM_019020 "CCDS62353|CCDS11766|CCDS62351|CCDS62352" Q8TBP0 23019362 MGI:2652878 RGD:1588560 616637 HGNC:28356 "ENST00000310924.7|NM_019020.4" HGNC:25699 TBC1D17 TBC1 domain family member 17 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FLJ12168 TBC1 domain family, member 17 MicroRNA protein coding host genes 1691 2004-02-04 2015-11-18 2023-01-20 79735 ENSG00000104946 OTTHUMG00000183376 uc002pqo.4 AK090606 NM_024682 "CCDS54294|CCDS12785" Q9HA65 22854040 MGI:2449973 RGD:1309686 616659 HGNC:25699 "ENST00000221543.10|NM_024682.3" -HGNC:25624 TBC1D19 TBC1 domain family member 19 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 FLJ11082 TBC1 domain family, member 19 2005-01-05 2015-11-18 2023-01-20 55296 ENSG00000109680 OTTHUMG00000097797 uc003gsf.5 AK001944 NM_018317 "CCDS3439|CCDS75115" Q8N5T2 MGI:1914499 RGD:1304958 HGNC:25624 "ENST00000264866.9|NM_018317.4" +HGNC:25624 TBC1D19 TBC1 domain family member 19 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 FLJ11082 TBC1 domain family, member 19 2005-01-05 2015-11-18 2023-01-20 55296 ENSG00000109680 OTTHUMG00000097797 uc003gsf.5 AK001944 NM_018317 "CCDS75115|CCDS3439" Q8N5T2 MGI:1914499 RGD:1304958 HGNC:25624 "ENST00000264866.9|NM_018317.4" HGNC:16133 TBC1D20 TBC1 domain family member 20 protein-coding gene gene with protein product Approved 20p13 20p13 dJ852M4.2 C20orf140 "chromosome 20 open reading frame 140|TBC1 domain family, member 20" 2001-07-17 2005-01-05 2015-11-18 2023-01-20 128637 ENSG00000125875 OTTHUMG00000031637 uc002wds.4 AK055573 NM_144628 CCDS13002 Q96BZ9 "17901050|24239381" MGI:1914481 RGD:1303293 611663 376959 HGNC:16133 "ENST00000354200.5|NM_144628.4" HGNC:16133 -HGNC:28536 TBC1D21 TBC1 domain family member 21 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "MGC34741|MgcRabGAP" male germ cell-specific expressed, containing a RabGAP domain TBC1 domain family, member 21 2005-01-05 2015-11-18 2023-01-20 161514 ENSG00000167139 OTTHUMG00000137594 uc002avz.5 BC033516 NM_153356 "CCDS10252|CCDS66822" Q8IYX1 21128978 MGI:1921536 RGD:1310243 620387 HGNC:28536 "ENST00000300504.7|NM_153356.3" -HGNC:1309 TBC1D22A TBC1 domain family member 22A protein-coding gene gene with protein product Approved 22q13.31 22q13.31 C22orf4 "chromosome 22 open reading frame 4|TBC1 domain family, member 22A" 2000-03-29 2005-01-05 2015-11-18 2023-01-20 25771 ENSG00000054611 OTTHUMG00000150332 uc003bib.5 AK125705 NM_014346 "CCDS74877|CCDS14078|CCDS63512|CCDS93180|CCDS63511" Q8WUA7 MGI:1289265 RGD:1306588 616879 HGNC:1309 "ENST00000337137.9|NM_014346.5" +HGNC:28536 TBC1D21 TBC1 domain family member 21 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "MGC34741|MgcRabGAP" male germ cell-specific expressed, containing a RabGAP domain TBC1 domain family, member 21 2005-01-05 2015-11-18 2023-01-20 161514 ENSG00000167139 OTTHUMG00000137594 uc002avz.5 BC033516 NM_153356 "CCDS66822|CCDS10252" Q8IYX1 21128978 MGI:1921536 RGD:1310243 620387 HGNC:28536 "ENST00000300504.7|NM_153356.3" +HGNC:1309 TBC1D22A TBC1 domain family member 22A protein-coding gene gene with protein product Approved 22q13.31 22q13.31 C22orf4 "chromosome 22 open reading frame 4|TBC1 domain family, member 22A" 2000-03-29 2005-01-05 2015-11-18 2023-01-20 25771 ENSG00000054611 OTTHUMG00000150332 uc003bib.5 AK125705 NM_014346 "CCDS74877|CCDS93180|CCDS63512|CCDS14078|CCDS63511" Q8WUA7 MGI:1289265 RGD:1306588 616879 HGNC:1309 "ENST00000337137.9|NM_014346.5" HGNC:51221 TBC1D22A-AS1 TBC1D22A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Antisense RNAs 1987 2014-08-08 2014-08-08 642757 ENSG00000280080 AK057318 NR_122047 TBC1D22A-AS1 HGNC:51221 HGNC:55388 TBC1D22A-DT TBC1D22A divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Divergent transcripts 1990 2020-12-10 2020-12-10 119863861 ENSG00000260708 HGNC:21602 TBC1D22B TBC1 domain family member 22B protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "FLJ20337|dJ744I24.2" C6orf197 "chromosome 6 open reading frame 197|TBC1 domain family, member 22B" 2003-06-25 2005-01-05 2015-11-18 2023-01-20 55633 ENSG00000065491 OTTHUMG00000014619 uc003onn.3 AK096340 NM_017772 CCDS4832 Q9NU19 MGI:2681867 RGD:1564987 616880 HGNC:21602 "ENST00000373491.3|NM_017772.4" @@ -38282,49 +38285,49 @@ HGNC:41211 TBC1D26-AS1 TBC1D26 antisense RNA 1 non-coding RNA RNA, long non-codi HGNC:28104 TBC1D27P TBC1 domain family member 27, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 TBC1D27 TBC1 domain family member 27 2008-01-22 2017-09-28 2017-09-28 2020-06-15 96597 ENSG00000128438 OTTHUMG00000059260 AK024458 NR_147084 HGNC:28104 HGNC:26858 TBC1D28 TBC1 domain family member 28 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 FLJ40244 TBC1 domain family, member 28 2008-01-22 2015-11-18 2023-01-20 254272 ENSG00000189375 OTTHUMG00000059054 uc002gud.2 NM_001039397 CCDS42273 Q2M2D7 HGNC:26858 "ENST00000405044.7|NM_001039397.3" HGNC:24509 TBC1D29P TBC1 domain family member 29, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 DKFZP434O047 TBC1D29 "TBC1 domain family, member 29|TBC1 domain family member 29" 2008-01-22 2018-08-09 2018-08-09 2023-03-15 26083 ENSG00000266733 OTTHUMG00000178857 uc002hfh.4 BC096718 NR_172920 Q9UFV1 12618308 HGNC:24509 -HGNC:29164 TBC1D30 TBC1 domain family member 30 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 KIAA0984 TBC1 domain family, member 30 2008-01-22 2015-11-18 2023-01-20 23329 ENSG00000111490 OTTHUMG00000168824 uc010sst.3 AB023201 NM_015279 "CCDS53813|CCDS81708" Q9Y2I9 "12618308|17646400" MGI:1921944 RGD:1305255 615077 HGNC:29164 "ENST00000539867.6|NM_015279.2" -HGNC:30888 TBC1D31 TBC1 domain family member 31 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MGC21654|Gm85" WDR67 "WD repeat domain 67|TBC1 domain family, member 31" WD repeat domain containing 362 2005-05-26 2013-07-10 2015-11-18 2023-01-20 93594 ENSG00000156787 OTTHUMG00000165081 AK094612 NM_145647 "CCDS83320|CCDS47916|CCDS6338" Q96DN5 33934390 MGI:2684931 RGD:1587370 HGNC:30888 "ENST00000287380.6|NM_145647.4" -HGNC:21485 TBC1D32 TBC1 domain family member 32 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "FLJ30899|dJ310J6.1|FLJ34235|bA57L9.1|BROMI" broad-minded homolog "C6orf171|C6orf170" "chromosome 6 open reading frame 171|chromosome 6 open reading frame 170|TBC1 domain family, member 32" Armadillo like helical domain containing 1492 2003-06-17 2013-07-10 2015-11-18 2023-01-20 221322 ENSG00000146350 OTTHUMG00000015474 AK055461 NM_152730 "CCDS43501|CCDS93996" Q96NH3 "20159594|24285566|35609210" MGI:2442827 RGD:2323599 615867 471190 HGNC:21485 "ENST00000398212.7|NM_152730.6" HGNC:21485 -HGNC:11579 TBCA tubulin folding cofactor A protein-coding gene gene with protein product Approved 5q14.1 05q14.1 tubulin-specific chaperone a 1998-07-31 2006-11-21 2023-01-20 6902 ENSG00000171530 OTTHUMG00000102173 uc003kfh.2 AF038952 NM_004607 "CCDS75263|CCDS78024|CCDS4040" O75347 "9653160|8706133" MGI:107549 RGD:1311538 610058 HGNC:11579 "ENST00000380377.9|NM_004607.3" +HGNC:29164 TBC1D30 TBC1 domain family member 30 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 KIAA0984 TBC1 domain family, member 30 2008-01-22 2015-11-18 2023-01-20 23329 ENSG00000111490 OTTHUMG00000168824 uc010sst.3 AB023201 NM_015279 "CCDS81708|CCDS53813" Q9Y2I9 "12618308|17646400" MGI:1921944 RGD:1305255 615077 HGNC:29164 "ENST00000539867.6|NM_015279.2" +HGNC:30888 TBC1D31 TBC1 domain family member 31 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MGC21654|Gm85" WDR67 "WD repeat domain 67|TBC1 domain family, member 31" WD repeat domain containing 362 2005-05-26 2013-07-10 2015-11-18 2023-01-20 93594 ENSG00000156787 OTTHUMG00000165081 AK094612 NM_145647 "CCDS6338|CCDS83320|CCDS47916" Q96DN5 33934390 MGI:2684931 RGD:1587370 HGNC:30888 "ENST00000287380.6|NM_145647.4" +HGNC:21485 TBC1D32 TBC1 domain family member 32 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "FLJ30899|dJ310J6.1|FLJ34235|bA57L9.1|BROMI" broad-minded homolog "C6orf171|C6orf170" "chromosome 6 open reading frame 171|chromosome 6 open reading frame 170|TBC1 domain family, member 32" Armadillo like helical domain containing 1492 2003-06-17 2013-07-10 2015-11-18 2023-06-16 221322 ENSG00000146350 OTTHUMG00000015474 AK055461 NM_152730 "CCDS43501|CCDS93996" Q96NH3 "20159594|24285566|35609210" MGI:2442827 RGD:2323599 615867 471190 HGNC:21485 "ENST00000398212.7|NM_152730.6" HGNC:21485 +HGNC:11579 TBCA tubulin folding cofactor A protein-coding gene gene with protein product Approved 5q14.1 05q14.1 tubulin-specific chaperone a 1998-07-31 2006-11-21 2023-01-20 6902 ENSG00000171530 OTTHUMG00000102173 uc003kfh.2 AF038952 NM_004607 "CCDS4040|CCDS75263|CCDS78024" O75347 "9653160|8706133" MGI:107549 RGD:1311538 610058 HGNC:11579 "ENST00000380377.9|NM_004607.3" HGNC:42630 TBCAP1 tubulin folding cofactor A pseudogene 1 pseudogene pseudogene Approved Xp21.1 Xp21.1 2011-08-10 2011-08-10 494540 ENSG00000226781 OTTHUMG00000021335 NG_004790 PGOHUM00000241692 HGNC:42630 HGNC:42631 TBCAP2 tubulin folding cofactor A pseudogene 2 pseudogene pseudogene Approved 1p36.21 01p36.21 2011-08-10 2011-08-10 494541 ENSG00000235829 OTTHUMG00000037853 NG_004791 PGOHUM00000256861 HGNC:42631 HGNC:42632 TBCAP3 tubulin folding cofactor A pseudogene 3 pseudogene pseudogene Approved 4q23 04q23 2011-08-10 2014-11-18 101290501 ENSG00000249055 OTTHUMG00000161088 NG_033171 HGNC:42632 -HGNC:1989 TBCB tubulin folding cofactor B protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "CG22|CKAPI" CKAP1 "cytoskeleton-associated protein 1|cytoskeleton associated protein 1" 1995-09-15 2006-11-22 2006-11-22 2023-01-20 1155 ENSG00000105254 OTTHUMG00000048143 uc002odg.2 AF013488 NM_001281 "CCDS12488|CCDS74344" Q99426 8978778 MGI:1913661 RGD:1309965 601303 HGNC:1989 "ENST00000221855.8|NM_001281.3" +HGNC:1989 TBCB tubulin folding cofactor B protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "CG22|CKAPI" CKAP1 "cytoskeleton-associated protein 1|cytoskeleton associated protein 1" 1995-09-15 2006-11-22 2006-11-22 2023-01-20 1155 ENSG00000105254 OTTHUMG00000048143 uc002odg.2 AF013488 NM_001281 "CCDS74344|CCDS12488" Q99426 8978778 MGI:1913661 RGD:1309965 601303 HGNC:1989 "ENST00000221855.8|NM_001281.3" HGNC:11580 TBCC tubulin folding cofactor C protein-coding gene gene with protein product Approved 6p21.1 06p21.1 CFC tubulin-specific chaperone c 1998-07-31 2006-11-21 2023-01-20 6903 ENSG00000124659 OTTHUMG00000014704 uc003osl.4 U61234 NM_003192 CCDS4872 Q15814 "8706133|11847227" MGI:1919976 RGD:1306756 602971 HGNC:11580 "ENST00000372876.2|NM_003192.3" -HGNC:25546 TBCCD1 TBCC domain containing 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 FLJ10560 2006-03-02 2023-01-20 55171 ENSG00000113838 OTTHUMG00000156613 uc011bry.3 BC025748 NM_018138 "CCDS75061|CCDS3276" Q9NVR7 20168327 MGI:1917823 RGD:1309604 619848 HGNC:25546 "ENST00000338733.10|NM_018138.5" HGNC:25546 -HGNC:11581 TBCD tubulin folding cofactor D protein-coding gene gene with protein product Approved 17q25.3 17q25.3 tubulin-specific chaperone d Armadillo like helical domain containing 1492 1998-07-31 2006-11-21 2023-01-20 6904 ENSG00000141556 OTTHUMG00000177878 uc002kfz.4 BC003094 NM_005993 "CCDS92423|CCDS45818|CCDS92421" Q9BTW9 MGI:1919686 RGD:2320148 604649 471192 HGNC:11581 "ENST00000355528.9|NM_005993.5" HGNC:11581 -HGNC:11582 TBCE tubulin folding cofactor E protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "KCS1|pac2" "KCS|HRD" "tubulin-specific chaperone e|Kenny-Caffey syndrome|hypoparathyroidism, growth and mental retardation, and dysmorphism" 1998-07-31 2006-11-21 2023-01-20 6905 ENSG00000284770 OTTHUMG00000039987 uc001hwz.2 U61232 NM_003193 "CCDS86060|CCDS1605|CCDS73052" Q15813 "8706133|9806825|12389028" MGI:1917680 RGD:1305533 604934 119938 HGNC:11582 "ENST00000642610.2|NM_003193.5" HGNC:11582 +HGNC:25546 TBCCD1 TBCC domain containing 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 FLJ10560 2006-03-02 2023-01-20 55171 ENSG00000113838 OTTHUMG00000156613 uc011bry.3 BC025748 NM_018138 "CCDS3276|CCDS75061" Q9NVR7 20168327 MGI:1917823 RGD:1309604 619848 HGNC:25546 "ENST00000338733.10|NM_018138.5" HGNC:25546 +HGNC:11581 TBCD tubulin folding cofactor D protein-coding gene gene with protein product Approved 17q25.3 17q25.3 tubulin-specific chaperone d Armadillo like helical domain containing 1492 1998-07-31 2006-11-21 2023-01-20 6904 ENSG00000141556 OTTHUMG00000177878 uc002kfz.4 BC003094 NM_005993 "CCDS92421|CCDS45818|CCDS92423" Q9BTW9 MGI:1919686 RGD:2320148 604649 471192 HGNC:11581 "ENST00000355528.9|NM_005993.5" HGNC:11581 +HGNC:11582 TBCE tubulin folding cofactor E protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "KCS1|pac2" "KCS|HRD" "tubulin-specific chaperone e|Kenny-Caffey syndrome|hypoparathyroidism, growth and mental retardation, and dysmorphism" 1998-07-31 2006-11-21 2023-01-20 6905 ENSG00000284770 OTTHUMG00000039987 uc001hwz.2 U61232 NM_003193 "CCDS1605|CCDS86060|CCDS73052" Q15813 "8706133|9806825|12389028" MGI:1917680 RGD:1305533 604934 119938 HGNC:11582 "ENST00000642610.2|NM_003193.5" HGNC:11582 HGNC:28115 TBCEL tubulin folding cofactor E like protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC10233 LRRC35 "leucine rich repeat containing 35|tubulin-specific chaperone e-like" 2005-03-13 2006-11-21 2016-06-17 2023-01-20 219899 ENSG00000154114 OTTHUMG00000166061 uc001pxo.4 BC020501 NM_152715 CCDS31692 Q5QJ74 "15728251|24098140" MGI:1925543 RGD:1308880 610451 HGNC:28115 "ENST00000683345.1|NM_001363644.2" HGNC:54857 TBCEL-TECTA TBCEL-TECTA readthrough other readthrough Approved 11q23.3 11q23.3 2020-03-09 2020-03-09 116804918 ENSG00000285509 NM_001378761 -HGNC:28261 TBCK TBC1 domain containing kinase protein-coding gene gene with protein product Approved 4q24 04q24 "MGC16169|HSPC302" 2009-08-26 2023-01-20 93627 ENSG00000145348 OTTHUMG00000131214 uc062yuq.1 NM_033115 "CCDS54789|CCDS54788|CCDS3673" Q8TEA7 12471243 MGI:2445052 RGD:1307816 LRG_836|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_836.xml 616899 objectId:2236 HGNC:28261 "ENST00000394708.7|NM_001163435.3" HGNC:28261 +HGNC:28261 TBCK TBC1 domain containing kinase protein-coding gene gene with protein product Approved 4q24 04q24 "MGC16169|HSPC302" FERRY complex subunits 2246 2009-08-26 2023-01-20 93627 ENSG00000145348 OTTHUMG00000131214 uc062yuq.1 NM_033115 "CCDS54789|CCDS3673|CCDS54788" Q8TEA7 12471243 MGI:2445052 RGD:1307816 LRG_836|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_836.xml 616899 objectId:2236 HGNC:28261 "ENST00000394708.7|NM_001163435.3" HGNC:28261 HGNC:53943 TBILA TGF-beta induced lncRNA non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 Long non-coding RNAs with non-systematic symbols 1992 2018-06-20 2018-06-20 112806053 ENSG00000261488 OTTHUMG00000175748 NR_157393 29908210 HGNC:53943 HGNC:11584 TBK1 TANK binding kinase 1 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 NAK TANK-binding kinase 1 I kappa B kinases 1802 2000-06-08 2016-03-14 2023-01-20 29110 ENSG00000183735 OTTHUMG00000168796 uc001ssc.3 AF191838 NM_013254 CCDS8968 Q9UHD2 "10581243|10783893" MGI:1929658 RGD:1588588 LRG_1306|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1306.xml 604834 318865 objectId:2237 HGNC:11584 "ENST00000331710.10|NM_013254.4" HGNC:11584 HGNC:30140 TBKBP1 TBK1 binding protein 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "ProSAPiP2|KIAA0775" 2005-12-13 2023-01-20 9755 ENSG00000198933 OTTHUMG00000178286 uc002ilu.4 AB018318 NM_014726 CCDS45722 A7MCY6 "14743216|19481056" MGI:1920424 RGD:631328 608476 HGNC:30140 "ENST00000578982.6|NM_001394755.1" -HGNC:11585 TBL1X transducin beta like 1 X-linked protein-coding gene gene with protein product Approved Xp22.31-p22.2 Xp22.31-p22.2 EBI TBL1 "transducin (beta)-like 1|transducin (beta)-like 1X-linked" "WD repeat domain containing|NCoR/SMRT transcriptional repression complex subunits" "362|1875" 1997-06-09 2002-05-24 2017-10-10 2023-01-20 6907 ENSG00000101849 OTTHUMG00000021117 uc010ndr.3 Y12781 NM_005647 "CCDS14133|CCDS48078" O60907 10330347 MGI:1336172 RGD:1563868 300196 HGNC:11585 "ENST00000645353.2|NM_005647.4" -HGNC:29529 TBL1XR1 TBL1X/Y related 1 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "IRA1|FLJ12894|TBLR1|C21|DC42" "F-box-like/WD repeat-containing protein TBL1XR1|TBL1-related protein" "transducin (beta)-like 1X-linked receptor 1|transducin beta like 1 X-linked receptor 1|TBL1X receptor 1" "WD repeat domain containing|NCoR/SMRT transcriptional repression complex subunits" "362|1875" 2004-08-09 2022-04-14 2023-01-20 79718 ENSG00000177565 OTTHUMG00000157140 uc003fiw.5 AK022956 NM_024665 "CCDS93428|CCDS46961" Q9BZK7 "11063877|11931768" MGI:2441730 RGD:1560053 TBL1XR1 608628 410642 HGNC:29529 "ENST00000457928.7|NM_024665.7" HGNC:29529 +HGNC:11585 TBL1X transducin beta like 1 X-linked protein-coding gene gene with protein product Approved Xp22.31-p22.2 Xp22.31-p22.2 EBI TBL1 "transducin (beta)-like 1|transducin (beta)-like 1X-linked" "WD repeat domain containing|NCoR/SMRT transcriptional repression complex subunits" "362|1875" 1997-06-09 2002-05-24 2017-10-10 2023-01-20 6907 ENSG00000101849 OTTHUMG00000021117 uc010ndr.3 Y12781 NM_005647 "CCDS48078|CCDS14133" O60907 10330347 MGI:1336172 RGD:1563868 300196 HGNC:11585 "ENST00000645353.2|NM_005647.4" +HGNC:29529 TBL1XR1 TBL1X/Y related 1 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "IRA1|FLJ12894|TBLR1|C21|DC42" "F-box-like/WD repeat-containing protein TBL1XR1|TBL1-related protein" "transducin (beta)-like 1X-linked receptor 1|transducin beta like 1 X-linked receptor 1|TBL1X receptor 1" "WD repeat domain containing|NCoR/SMRT transcriptional repression complex subunits" "362|1875" 2004-08-09 2022-04-14 2023-01-20 79718 ENSG00000177565 OTTHUMG00000157140 uc003fiw.5 AK022956 NM_024665 "CCDS46961|CCDS93428" Q9BZK7 "11063877|11931768" MGI:2441730 RGD:1560053 TBL1XR1 608628 410642 HGNC:29529 "ENST00000457928.7|NM_024665.7" HGNC:29529 HGNC:41243 TBL1XR1-AS1 TBL1XR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 TBL1XR1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874217 ENSG00000231310 OTTHUMG00000157220 uc062qbv.1 NR_174966 TBL1XR1-AS1 HGNC:18502 TBL1Y transducin beta like 1 Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 TBL1 transducin (beta)-like 1, Y-linked WD repeat domain containing 362 2002-05-22 2017-10-10 2023-01-20 90665 ENSG00000092377 OTTHUMG00000035299 uc004frb.3 AF332220 NM_033284 CCDS14779 Q9BQ87 MGI:1336172 400033 HGNC:18502 "ENST00000383032.6|NM_033284.2" HGNC:18502 HGNC:23979 TBL1YP1 transducin beta like 1 Y-linked pseudogene 1 pseudogene pseudogene Approved Yq11.223 Yq11.223 transducin (beta)-like 1, Y-linked pseudogene 1 2009-12-17 2017-10-10 2017-10-10 286555 ENSG00000225624 OTTHUMG00000036543 NG_002819 12815422 PGOHUM00000234006 HGNC:23979 HGNC:11586 TBL2 transducin beta like 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WS-betaTRP|WBSCR13|DKFZP43N024" Williams-Beuren syndrome chromosome region 13 transducin (beta)-like 2 WD repeat domain containing 362 1999-12-14 2016-07-27 2023-03-15 26608 ENSG00000106638 OTTHUMG00000023427 uc003tyh.5 AF056183 NM_012453 CCDS5551 Q9Y4P3 "9860302|10575226" MGI:1351652 RGD:1595038 605842 119944 HGNC:11586 "ENST00000305632.11|NM_012453.4" HGNC:11587 TBL3 transducin beta like 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SAZD|UTP13" transducin (beta)-like 3 "WD repeat domain containing|UTPb subcomplex" "362|1225" 1999-12-14 2016-03-22 2023-01-20 10607 ENSG00000183751 OTTHUMG00000128710 uc002cnu.2 U02609 NM_006453 CCDS10453 Q12788 8307582 MGI:2384863 RGD:1305142 605915 HGNC:11587 "ENST00000568546.6|NM_006453.3" -HGNC:11588 TBP TATA-box binding protein protein-coding gene gene with protein product Approved 6q27 06q27 "TFIID|TBP1" Spinocerebellar ataxia 17 "GTF2D1|SCA17" "General transcription factors|General transcription factor IID complex subunits |General transcription factor IIIB complex subunits " "565|1878|1879" 1993-05-26 2015-11-20 2023-01-20 6908 ENSG00000112592 OTTHUMG00000016084 uc011ehf.3 M55654 NM_003194 "CCDS5315|CCDS55077" P20226 "2194289|11448935" MGI:101838 RGD:67398 600075 119948 HGNC:11588 "ENST00000392092.7|NM_003194.5" HGNC:11588 +HGNC:11588 TBP TATA-box binding protein protein-coding gene gene with protein product Approved 6q27 06q27 "TFIID|TBP1" Spinocerebellar ataxia 17 "GTF2D1|SCA17" "General transcription factors|General transcription factor IID complex subunits |General transcription factor IIIB complex subunits " "565|1878|1879" 1993-05-26 2015-11-20 2023-01-20 6908 ENSG00000112592 OTTHUMG00000016084 uc011ehf.3 M55654 NM_003194 "CCDS55077|CCDS5315" P20226 "2194289|11448935" MGI:101838 RGD:67398 600075 119948 HGNC:11588 "ENST00000392092.7|NM_003194.5" HGNC:11588 HGNC:11589 TBPL1 TATA-box binding protein like 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "TLP|STUD|TRF2|TLF" TBP-like factor TBP-like 1 1999-08-20 2015-11-23 2023-01-20 9519 ENSG00000028839 OTTHUMG00000015609 uc003qel.4 AB020881 NM_001253676 CCDS5168 P62380 "10082669|10220372|15767669" MGI:1339946 RGD:1597456 605521 HGNC:11589 "ENST00000237264.9|NM_004865.4" HGNC:56577 TBPL1P1 TBPL1 pseudogene 1 pseudogene pseudogene Approved 3q26.31 03q26.31 2022-11-03 2022-11-03 100856791 ENSG00000224611 NG_031800 PGOHUM00000299668 HGNC:19841 TBPL2 TATA-box binding protein like 2 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "TRF3|TBP2" 2003-01-13 2015-11-20 2023-01-20 387332 ENSG00000182521 OTTHUMG00000140313 uc001xby.5 AY457923 NM_199047 Q6SJ96 14634207 MGI:2684058 RGD:1596837 608964 HGNC:19841 "ENST00000247219.6|NM_199047.3" HGNC:11590 TBR1 T-box brain transcription factor 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "T-box, brain, 1|T-box, brain 1" T-box transcription factors 766 1999-12-14 2019-06-06 2023-01-20 10716 ENSG00000136535 OTTHUMG00000153888 uc002ubw.2 U49250 NM_006593 CCDS33310 Q16650 7619531 MGI:107404 RGD:1591773 604616 471194 HGNC:11590 "ENST00000389554.8|NM_006593.4" HGNC:11590 HGNC:29551 TBRG1 transforming growth factor beta regulator 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FLJ14621|TB-5|NIAM" nuclear interactor of ARF and MDM2 2004-02-23 2023-01-20 84897 ENSG00000154144 OTTHUMG00000153024 uc001qak.5 AK074140 NM_032811 CCDS8448 Q3YBR2 "7654366|17110379" MGI:1100877 RGD:1305123 610614 HGNC:29551 "ENST00000441174.8|NM_032811.3" -HGNC:17443 TBRG4 transforming growth factor beta regulator 4 protein-coding gene gene with protein product Approved 7p13 07p13 "Cpr2|KIAA0948|H_TD2522F11.8|FASTKD4" "FAST kinase domains 4|cell cycle progression 2 protein" "FASTK mitochondrial RNA binding family|Small nucleolar RNA protein coding host genes" "1538|1835" 2004-02-23 2023-01-20 9238 ENSG00000136270 OTTHUMG00000129247 uc003tmv.5 AB023165 NM_030900 "CCDS5501|CCDS5502" Q969Z0 9383053 MGI:1100868 RGD:1309737 611325 HGNC:17443 "ENST00000258770.8|NM_004749.4" -HGNC:11592 TBX1 T-box transcription factor 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 CATCH22 VCF "velocardiofacial syndrome|T-box 1" T-box transcription factors 766 1997-05-15 2019-06-06 2023-01-20 6899 ENSG00000184058 OTTHUMG00000150421 uc002zqa.2 AF012131 NM_080647 "CCDS13765|CCDS13767|CCDS13766|CCDS93119" O43435 "9268629|23000736" MGI:98493 RGD:1307734 LRG_226|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_226.xml 602054 119953 HGNC:11592 "ENST00000649276.2|NM_001379200.1" HGNC:11592 +HGNC:17443 TBRG4 transforming growth factor beta regulator 4 protein-coding gene gene with protein product Approved 7p13 07p13 "Cpr2|KIAA0948|H_TD2522F11.8|FASTKD4" "FAST kinase domains 4|cell cycle progression 2 protein" "FASTK mitochondrial RNA binding family|Small nucleolar RNA protein coding host genes" "1538|1835" 2004-02-23 2023-01-20 9238 ENSG00000136270 OTTHUMG00000129247 uc003tmv.5 AB023165 NM_030900 "CCDS5502|CCDS5501" Q969Z0 9383053 MGI:1100868 RGD:1309737 611325 HGNC:17443 "ENST00000258770.8|NM_004749.4" +HGNC:11592 TBX1 T-box transcription factor 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 CATCH22 VCF "velocardiofacial syndrome|T-box 1" T-box transcription factors 766 1997-05-15 2019-06-06 2023-01-20 6899 ENSG00000184058 OTTHUMG00000150421 uc002zqa.2 AF012131 NM_080647 "CCDS93119|CCDS13765|CCDS13766|CCDS13767" O43435 "9268629|23000736" MGI:98493 RGD:1307734 LRG_226|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_226.xml 602054 119953 HGNC:11592 "ENST00000649276.2|NM_001379200.1" HGNC:11592 HGNC:11597 TBX2 T-box transcription factor 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 T-box 2 T-box transcription factors 766 1995-05-08 2019-06-06 2023-01-20 6909 ENSG00000121068 OTTHUMG00000156986 uc010wox.3 AB209378 NM_005994 CCDS11627 Q13207 8530034 MGI:98494 RGD:1311014 600747 269925 HGNC:11597 "ENST00000240328.4|NM_005994.4" HGNC:11597 HGNC:50355 TBX2-AS1 TBX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q23.2 17q23.2 Antisense RNAs 1987 2014-04-17 2020-10-15 103689912 ENSG00000267280 OTTHUMG00000180076 AI927936 NR_125749 TBX2-AS1 HGNC:50355 HGNC:11602 TBX3 T-box transcription factor 3 protein-coding gene gene with protein product Approved 12q24.21 12q24.21 "TBX3-ISO|XHL" UMS "ulnar mammary syndrome|T-box 3" T-box transcription factors 766 1997-06-18 2019-06-06 2023-01-20 6926 ENSG00000135111 OTTHUMG00000169586 uc001tvt.2 BC025258 "NM_016569|NM_005996" "CCDS9175|CCDS9176" O15119 8988164 MGI:98495 RGD:735203 TBX3 601621 119961 HGNC:11602 "ENST00000349155.7|NM_005996.4" HGNC:11602 HGNC:55471 TBX3-AS1 TBX3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.21 12q24.21 Antisense RNAs 1987 2021-03-10 2021-03-10 105370000 ENSG00000257817 XR_007063471 -HGNC:11603 TBX4 T-box transcription factor 4 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 T-box 4 T-box transcription factors 766 1999-04-16 2019-06-06 2023-01-20 9496 ENSG00000121075 OTTHUMG00000180078 uc002izi.3 AF188703 NM_018488 "CCDS82180|CCDS11629" P57082 10945475 MGI:102556 RGD:1309057 LRG_1206|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1206.xml 601719 119966 HGNC:11603 "ENST00000644296.1|NM_001321120.2" HGNC:11603 +HGNC:11603 TBX4 T-box transcription factor 4 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 T-box 4 T-box transcription factors 766 1999-04-16 2019-06-06 2023-01-20 9496 ENSG00000121075 OTTHUMG00000180078 uc002izi.3 AF188703 NM_018488 "CCDS11629|CCDS82180" P57082 10945475 MGI:102556 RGD:1309057 LRG_1206|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1206.xml 601719 119966 HGNC:11603 "ENST00000644296.1|NM_001321120.2" HGNC:11603 HGNC:11604 TBX5 T-box transcription factor 5 protein-coding gene gene with protein product Approved 12q24.21 12q24.21 HOS T-box 5 T-box transcription factors 766 1997-05-22 2019-06-06 2023-03-15 6910 ENSG00000089225 OTTHUMG00000166191 uc001tvp.4 U89353 NM_080717 "CCDS9173|CCDS9174" Q99593 "8988165|8054982" MGI:102541 RGD:1305702 LRG_670|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_670.xml 601620 119968 HGNC:11604 "ENST00000405440.7|NM_181486.4" HGNC:11604 HGNC:27402 TBX5-AS1 TBX5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.21 12q24.21 TBX5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 255480 ENSG00000255399 OTTHUMG00000166190 uc058tqv.1 NR_038440 TBX5-AS1 HGNC:27402 HGNC:11605 TBX6 T-box transcription factor 6 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 T-box 6 T-box transcription factors 766 1998-08-10 2019-06-06 2023-01-20 6911 ENSG00000149922 OTTHUMG00000132115 uc010veh.3 AJ007989 "NM_004608|NM_080758" CCDS10670 O95947 "9888994|9933572" MGI:102539 RGD:1307716 602427 332034 HGNC:11605 "ENST00000395224.7|NM_004608.4" HGNC:11605 HGNC:11593 TBX10 T-box transcription factor 10 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 TBX13 TBX7 "T-box 7|T-box 10" T-box transcription factors 766 1997-10-24 2019-06-06 2023-01-20 347853 ENSG00000167800 OTTHUMG00000167291 uc001omp.3 AH006177 NM_005995 CCDS31621 O75333 9545502 MGI:1261436 RGD:1584144 604648 HGNC:11593 "ENST00000335385.4|NM_005995.5" -HGNC:11594 TBX15 T-box transcription factor 15 protein-coding gene gene with protein product Approved 1p12 01p12 TBX14 "T-box 14|T-box 15" T-box transcription factors 766 1998-08-26 2019-06-06 2023-01-20 6913 ENSG00000092607 OTTHUMG00000012263 uc001ehl.2 AK127536 NM_152380 "CCDS30816|CCDS81360" Q96SF7 9693034 MGI:1277234 RGD:1308094 604127 169905 HGNC:11594 "ENST00000369429.5|NM_001330677.2" HGNC:11594 +HGNC:11594 TBX15 T-box transcription factor 15 protein-coding gene gene with protein product Approved 1p12 01p12 TBX14 "T-box 14|T-box 15" T-box transcription factors 766 1998-08-26 2019-06-06 2023-01-20 6913 ENSG00000092607 OTTHUMG00000012263 uc001ehl.2 AK127536 NM_152380 "CCDS81360|CCDS30816" Q96SF7 9693034 MGI:1277234 RGD:1308094 604127 169905 HGNC:11594 "ENST00000369429.5|NM_001330677.2" HGNC:11594 HGNC:11595 TBX18 T-box transcription factor 18 protein-coding gene gene with protein product Approved 6q14.3 06q14.3 T-box 18 T-box transcription factors 766 1999-02-01 2019-06-06 2023-01-20 9096 ENSG00000112837 OTTHUMG00000015129 uc003pkl.4 AJ010278 NM_001080508 CCDS34495 O95935 "9888994|16688725|23242162" MGI:1923615 RGD:1309856 604613 437168 HGNC:11595 "ENST00000369663.10|NM_001080508.3" HGNC:11595 HGNC:52256 TBX18-AS1 TBX18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q14.3 06q14.3 Antisense RNAs 1987 2015-10-30 2015-10-30 102724201 ENSG00000228290 OTTHUMG00000015128 NR_125875 TBX18-AS1 HGNC:52256 HGNC:11596 TBX19 T-box transcription factor 19 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "dj747L4.1|TPIT" TBS 19 T-box 19 T-box transcription factors 766 1999-02-01 2019-06-06 2023-01-20 9095 ENSG00000143178 OTTHUMG00000034648 uc001gfl.5 AJ010277 NM_005149 CCDS1272 O60806 9888994 MGI:1891158 RGD:1310145 604614 119955 HGNC:11596 "ENST00000367821.8|NM_005149.3" HGNC:11596 @@ -38333,16 +38336,16 @@ HGNC:11599 TBX21 T-box transcription factor 21 protein-coding gene gene with pro HGNC:11600 TBX22 T-box transcription factor 22 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "CPX|CLPA" "cleft palate and/or ankyloglossia|T-box 22" T-box transcription factors 766 2000-05-05 2019-06-06 2023-03-15 50945 ENSG00000122145 OTTHUMG00000021901 uc010nmg.1 AL031000 NM_016954 CCDS14445 Q9Y458 "11559848|14729838" MGI:2389465 RGD:1589764 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TBX22 300307 119959 HGNC:11600 "ENST00000373296.8|NM_001109878.2" HGNC:11600 HGNC:11601 TBX23P T-box transcription factor 23, pseudogene pseudogene pseudogene Approved 1q25 01q25 TBX23 "T-box 23|T-box 23, pseudogene" T-box transcription factors 766 2000-08-31 2005-10-11 2019-06-06 2019-06-06 57160 AL157899 HGNC:11607 TBXA1R thromboxane A1 receptor other unknown Approved reserved reserved 1993-12-08 2019-06-28 6914 -HGNC:11608 TBXA2R thromboxane A2 receptor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Prostaglandin receptors 207 1991-08-08 2023-01-20 6915 ENSG00000006638 OTTHUMG00000180806 uc002lyg.3 NM_001060 "CCDS42467|CCDS54198" P21731 1825698 MGI:98496 RGD:3825 LRG_578|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_578.xml 188070 293114 objectId:346 HGNC:11608 "ENST00000375190.10|NM_001060.6" HGNC:11608 -HGNC:11609 TBXAS1 thromboxane A synthase 1 protein-coding gene gene with protein product Approved 7q34 07q34 "CYP5|CYP5A1|THAS|TXS|TXAS|TS" cytochrome P450, family 5, subfamily A, polypeptide 1 "thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)|thromboxane A synthase 1 (platelet)" Cytochrome P450 family 5 1004 1992-10-07 2015-11-26 2023-01-20 6916 ENSG00000059377 OTTHUMG00000157302 uc003vvh.4 L36085 NM_001061 "CCDS55174|CCDS55175|CCDS5855|CCDS5856|CCDS94215" P24557 "1714723|8964509" MGI:98497 RGD:3826 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/TBXAS1|LRG_579|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_579.xml" 274180 137959 objectId:1353 5.3.99.5 HGNC:11609 "ENST00000448866.7|NM_001061.7" HGNC:11609 -HGNC:11515 TBXT T-box transcription factor T protein-coding gene gene with protein product Approved 6q27 06q27 T "T, brachyury homolog (mouse)|T brachyury transcription factor" T-box transcription factors 766 1996-04-12 2017-12-12 2017-12-12 2023-01-20 6862 ENSG00000164458 OTTHUMG00000015991 uc003quu.4 AJ001699 NM_003181 "CCDS94030|CCDS5290|CCDS59045" O15178 8963900 MGI:98472 RGD:1310141 601397 119908 HGNC:11515 "ENST00000366876.7|NM_001366285.2" HGNC:11515 -HGNC:19859 TC2N tandem C2 domains, nuclear protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "FLJ36557|Tac2-N|C2CD1" C2 calcium-dependent domain containing 1 "C14orf47|MTAC2D1" "chromosome 14 open reading frame 47|membrane targeting (tandem) C2 domain containing 1" Synaptotagmin like tandem C2 proteins 822 2002-11-27 2007-08-17 2007-08-17 2023-01-20 123036 ENSG00000165929 OTTHUMG00000171121 uc001xzv.6 AA243837 NM_152332 "CCDS9897|CCDS73679" Q8N9U0 11526914 MGI:1921663 RGD:1563876 619305 HGNC:19859 "ENST00000435962.7|NM_001128596.3" -HGNC:22201 TCAF1 TRPM8 channel associated factor 1 protein-coding gene gene with protein product Approved 7q35 07q35 "KIAA0738|GATD9A" FAM115A "family with sequence similarity 115, member A|TRPM8 channel-associated factor 1" Glutamine amidotransferase class 1 domain containing 1408 2007-08-16 2015-01-07 2016-03-15 2023-01-20 9747 ENSG00000198420 OTTHUMG00000157773 AB018281 NM_014719 "CCDS5886|CCDS56514" Q9Y4C2 "9872452|25559186" MGI:1914665 RGD:1565474 616251 HGNC:22201 "ENST00000479870.6|NM_014719.3" +HGNC:11608 TBXA2R thromboxane A2 receptor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Prostaglandin receptors 207 1991-08-08 2023-01-20 6915 ENSG00000006638 OTTHUMG00000180806 uc002lyg.3 NM_001060 "CCDS54198|CCDS42467" P21731 1825698 MGI:98496 RGD:3825 LRG_578|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_578.xml 188070 293114 objectId:346 HGNC:11608 "ENST00000375190.10|NM_001060.6" HGNC:11608 +HGNC:11609 TBXAS1 thromboxane A synthase 1 protein-coding gene gene with protein product Approved 7q34 07q34 "CYP5|CYP5A1|THAS|TXS|TXAS|TS" cytochrome P450, family 5, subfamily A, polypeptide 1 "thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)|thromboxane A synthase 1 (platelet)" Cytochrome P450 family 5 1004 1992-10-07 2015-11-26 2023-01-20 6916 ENSG00000059377 OTTHUMG00000157302 uc003vvh.4 L36085 NM_001061 "CCDS5855|CCDS55175|CCDS94215|CCDS55174|CCDS5856" P24557 "1714723|8964509" MGI:98497 RGD:3826 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/TBXAS1|LRG_579|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_579.xml" 274180 137959 objectId:1353 5.3.99.5 HGNC:11609 "ENST00000448866.7|NM_001061.7" HGNC:11609 +HGNC:11515 TBXT T-box transcription factor T protein-coding gene gene with protein product Approved 6q27 06q27 T "T, brachyury homolog (mouse)|T brachyury transcription factor" T-box transcription factors 766 1996-04-12 2017-12-12 2017-12-12 2023-01-20 6862 ENSG00000164458 OTTHUMG00000015991 uc003quu.4 AJ001699 NM_003181 "CCDS5290|CCDS59045|CCDS94030" O15178 8963900 MGI:98472 RGD:1310141 601397 119908 HGNC:11515 "ENST00000366876.7|NM_001366285.2" HGNC:11515 +HGNC:19859 TC2N tandem C2 domains, nuclear protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "FLJ36557|Tac2-N|C2CD1" C2 calcium-dependent domain containing 1 "C14orf47|MTAC2D1" "chromosome 14 open reading frame 47|membrane targeting (tandem) C2 domain containing 1" Synaptotagmin like tandem C2 proteins 822 2002-11-27 2007-08-17 2007-08-17 2023-01-20 123036 ENSG00000165929 OTTHUMG00000171121 uc001xzv.6 AA243837 NM_152332 "CCDS73679|CCDS9897" Q8N9U0 11526914 MGI:1921663 RGD:1563876 619305 HGNC:19859 "ENST00000435962.7|NM_001128596.3" +HGNC:22201 TCAF1 TRPM8 channel associated factor 1 protein-coding gene gene with protein product Approved 7q35 07q35 "KIAA0738|GATD9A" FAM115A "family with sequence similarity 115, member A|TRPM8 channel-associated factor 1" Glutamine amidotransferase class 1 domain containing 1408 2007-08-16 2015-01-07 2016-03-15 2023-01-20 9747 ENSG00000198420 OTTHUMG00000157773 AB018281 NM_014719 "CCDS56514|CCDS5886" Q9Y4C2 "9872452|25559186" MGI:1914665 RGD:1565474 616251 HGNC:22201 "ENST00000479870.6|NM_014719.3" HGNC:33604 TCAF1P1 TRPM8 channel associated factor 1 pseudogene 1 pseudogene pseudogene Approved 7q35 07q35 FAM115B "family with sequence similarity 115, member B|family with sequence similarity 115, member B (pseudogene)|TRPM8 channel-associated factor 1 pseudogene 1" 2007-08-16 2015-01-07 2016-03-15 2017-08-10 653199 ENSG00000223459 OTTHUMG00000022870 NG_008224 PGOHUM00000302990 HGNC:33604 -HGNC:26878 TCAF2 TRPM8 channel associated factor 2 protein-coding gene gene with protein product Approved 7q35 07q35 "FLJ40722|GATD9B" "FAM139A|FAM115C" "family with sequence similarity 139, member A|family with sequence similarity 115, member C|TRPM8 channel-associated factor 2" Glutamine amidotransferase class 1 domain containing 1408 2007-08-16 2015-01-07 2016-03-15 2023-01-20 285966 ENSG00000170379 OTTHUMG00000153232 AY167570 NM_173678 "CCDS87559|CCDS34769|CCDS94223|CCDS47735" A6NFQ2 25559186 MGI:2385258 RGD:6487302 616252 HGNC:26878 "ENST00000684770.1|NM_001363538.2" +HGNC:26878 TCAF2 TRPM8 channel associated factor 2 protein-coding gene gene with protein product Approved 7q35 07q35 "FLJ40722|GATD9B" "FAM139A|FAM115C" "family with sequence similarity 139, member A|family with sequence similarity 115, member C|TRPM8 channel-associated factor 2" Glutamine amidotransferase class 1 domain containing 1408 2007-08-16 2015-01-07 2016-03-15 2023-01-20 285966 ENSG00000170379 OTTHUMG00000153232 AY167570 NM_173678 "CCDS47735|CCDS87559|CCDS94223|CCDS34769" A6NFQ2 25559186 MGI:2385258 RGD:6487302 616252 HGNC:26878 "ENST00000684770.1|NM_001363538.2" HGNC:53641 TCAF2C TRPM8 channel associated factor 2C other unknown Approved 7q35 07q35 2017-11-29 2019-06-28 100533814 ENSG00000283528 OTTHUMG00000191659 NG_028894 "MGI:2385258|MGI:3042585" PGOHUM00000302464 HGNC:53641 HGNC:33603 TCAF2P1 TRPM8 channel associated factor 2 pseudogene 1 pseudogene pseudogene Approved 7q35 07q35 "FLJ40722-like|TCAF2BP" "FAM139B|FAM115D" "family with sequence similarity 139, member B|family with sequence similarity 115, member D (pseudogene)|TRPM8 channel-associated factor 2 pseudogene 1" 2007-08-16 2015-01-07 2016-03-15 2017-08-10 653691 ENSG00000159860 OTTHUMG00000153235 NR_110549 PGOHUM00000302994 HGNC:33603 -HGNC:25241 TCAIM T cell activation inhibitor, mitochondrial protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "DKFZp313N0621|TOAG-1" tolerance associated gene-1 C3orf23 C3orf23 2005-05-05 2012-08-22 2017-12-06 2023-01-20 285343 ENSG00000179152 OTTHUMG00000133049 uc003cnd.5 NM_173826 "CCDS2712|CCDS43076" Q8N3R3 25363083 MGI:1196217 RGD:1560717 HGNC:25241 "ENST00000342649.9|NM_173826.4" +HGNC:25241 TCAIM T cell activation inhibitor, mitochondrial protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "DKFZp313N0621|TOAG-1" tolerance associated gene-1 C3orf23 C3orf23 2005-05-05 2012-08-22 2017-12-06 2023-01-20 285343 ENSG00000179152 OTTHUMG00000133049 uc003cnd.5 NM_173826 "CCDS43076|CCDS2712" Q8N3R3 25363083 MGI:1196217 RGD:1560717 HGNC:25241 "ENST00000342649.9|NM_173826.4" HGNC:30707 TCAM1P testicular cell adhesion molecule 1, pseudogene pseudogene pseudogene Approved 17q23.3 17q23.3 TCAM1 "testicular cell adhesion molecule 1 homolog (mouse)|testicular cell adhesion molecule 1 homolog (mouse), pseudogene" 2005-07-26 2010-03-12 2012-12-07 2015-05-06 146771 ENSG00000240280 OTTHUMG00000154404 AB026156 NR_002947 "11195349|2744760|19766163" MGI:1923120 612756 HGNC:30707 HGNC:11610 TCAP titin-cap protein-coding gene gene with protein product Approved 17q12 17q12 "T-cap|TELE|telethonin|CMD1N" "19 kDa sarcomeric protein|teneurin C-terminal associated peptide" LGMD2G "limb girdle muscular dystrophy 2G (autosomal recessive)|titin-cap (telethonin)" 2000-02-16 2012-09-20 2023-01-20 8557 ENSG00000173991 OTTHUMG00000133215 uc002hsh.4 AJ000491 NM_003673 CCDS11342 O15273 "9350988|9817758" MGI:1330233 RGD:1592387 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/TCAP|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TCAP|LRG_210|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_210.xml" 604488 119971 HGNC:11610 "ENST00000309889.3|NM_003673.4" HGNC:11610 HGNC:11612 TCEA1 transcription elongation factor A1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "SII|TF2S|TFIIS" transcription factor IIS "TCEA|GTF2S" transcription elongation factor A (SII), 1 General transcription factors 565 1994-08-03 2016-02-15 2023-01-20 6917 ENSG00000187735 OTTHUMG00000164262 uc003xru.5 X62585 NM_006756 "CCDS47858|CCDS47857" P23193 "8812434|8112616" MGI:1196624 RGD:1309880 TCEA1 601425 HGNC:11612 "ENST00000521604.7|NM_006756.4" @@ -38350,13 +38353,13 @@ HGNC:11613 TCEA1P1 transcription elongation factor A1 pseudogene 1 pseudogene ps HGNC:29891 TCEA1P2 transcription elongation factor A1 pseudogene 2 pseudogene pseudogene Approved 3p22 03p22 TCEA1 transcription elongation factor A (SII), 1 pseudogene 2 2004-02-03 2016-02-15 2016-02-15 399511 ENSG00000230409 NG_003186 HGNC:29891 HGNC:30569 TCEA1P3 transcription elongation factor A1 pseudogene 3 pseudogene pseudogene Approved 9p13.1 09p13.1 transcription elongation factor A (SII), 1 pseudogene 3 2004-02-03 2016-02-15 2016-10-05 340501 ENSG00000215165 OTTHUMG00000019941 NG_021646 PGOHUM00000236460 HGNC:30569 HGNC:31091 TCEA1P4 transcription elongation factor A1 pseudogene 4 pseudogene pseudogene Approved 9p21.1 09p21.1 transcription elongation factor A (SII), 1 pseudogene 4 2004-02-03 2016-02-15 2020-04-20 100421350 ENSG00000236184 OTTHUMG00000019756 NG_012821 PGOHUM00000236010 HGNC:31091 -HGNC:11614 TCEA2 transcription elongation factor A2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 TFIIS transcription elongation factor A (SII), 2 1996-12-27 2016-02-15 2023-01-20 6919 ENSG00000171703 OTTHUMG00000033026 uc061yqu.1 U86749 NM_198723 "CCDS13553|CCDS13554" Q15560 "9441762|8566795" MGI:107368 RGD:61825 604784 HGNC:11614 "ENST00000343484.10|NM_003195.6" +HGNC:11614 TCEA2 transcription elongation factor A2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 TFIIS transcription elongation factor A (SII), 2 1996-12-27 2016-02-15 2023-01-20 6919 ENSG00000171703 OTTHUMG00000033026 uc061yqu.1 U86749 NM_198723 "CCDS13554|CCDS13553" Q15560 "9441762|8566795" MGI:107368 RGD:61825 604784 HGNC:11614 "ENST00000343484.10|NM_003195.6" HGNC:11615 TCEA3 transcription elongation factor A3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 TFIIS.H transcription elongation factor A (SII), 3 1998-05-01 2016-02-15 2023-01-20 6920 ENSG00000204219 OTTHUMG00000003233 uc057dfl.1 AJ223473 NM_003196 CCDS44086 O75764 9790746 MGI:1196908 RGD:1311369 604128 HGNC:11615 "ENST00000450454.7|NM_003196.3" HGNC:11616 TCEAL1 transcription elongation factor A like 1 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "p21|pp21|SIIR|P21|WEX9" transcription elongation factor A (SII)-like 1 Transcription elongation factor A like family 1216 1998-09-21 2016-02-15 2023-01-20 9338 ENSG00000172465 OTTHUMG00000022699 uc004ekt.4 M99701 NM_004780 CCDS35358 Q15170 "8206389|7971997|16221301" MGI:2385317 RGD:1549724 300237 HGNC:11616 "ENST00000372625.8|NM_004780.3" HGNC:29818 TCEAL2 transcription elongation factor A like 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "my048|MY0876G05|WEX1" transcription elongation factor A (SII)-like 2 Transcription elongation factor A like family 1216 2004-08-16 2016-02-15 2023-01-20 140597 ENSG00000184905 OTTHUMG00000022048 uc004eip.4 AF325115 NM_080390 CCDS14496 Q9H3H9 16221301 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCEAL2 HGNC:29818 "ENST00000372780.6|NM_080390.4" HGNC:28247 TCEAL3 transcription elongation factor A like 3 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "MGC15737|WEX8" transcription elongation factor A (SII)-like 3 Transcription elongation factor A like family 1216 2004-08-16 2016-02-15 2023-01-20 85012 ENSG00000196507 OTTHUMG00000022106 uc065aln.1 BC008703 NM_032926 CCDS14511 Q969E4 16221301 MGI:1913354 RGD:1562504 HGNC:28247 "ENST00000372627.10|NM_032926.3" HGNC:41191 TCEAL3-AS1 TCEAL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.2 Xq22.2 TCEAL3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100874119 ENSG00000224031 OTTHUMG00000022105 uc065alp.1 AV651489 TCEAL3-AS1 -HGNC:26121 TCEAL4 transcription elongation factor A like 4 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "FLJ21174|WEX7" transcription elongation factor A (SII)-like 4 Transcription elongation factor A like family 1216 2004-08-16 2016-02-15 2023-01-20 79921 ENSG00000133142 OTTHUMG00000022103 uc004ekm.4 AF314542 NM_024863 "CCDS76004|CCDS14510" Q96EI5 "14702039|16221301" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCEAL4 HGNC:26121 "ENST00000472484.6|NM_001006935.3" +HGNC:26121 TCEAL4 transcription elongation factor A like 4 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "FLJ21174|WEX7" transcription elongation factor A (SII)-like 4 Transcription elongation factor A like family 1216 2004-08-16 2016-02-15 2023-01-20 79921 ENSG00000133142 OTTHUMG00000022103 uc004ekm.4 AF314542 NM_024863 "CCDS14510|CCDS76004" Q96EI5 "14702039|16221301" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCEAL4 HGNC:26121 "ENST00000472484.6|NM_001006935.3" HGNC:39582 TCEAL4P1 transcription elongation factor A like 4 pseudogene 1 pseudogene pseudogene Approved 13q13.3 13q13.3 transcription elongation factor A (SII)-like 4 pseudogene 1 2011-03-15 2016-02-15 2016-02-15 100874432 ENSG00000223543 OTTHUMG00000016737 NG_032322 PGOHUM00000248362 HGNC:39582 HGNC:22282 TCEAL5 transcription elongation factor A like 5 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 WEX4 transcription elongation factor A (SII)-like 5 Transcription elongation factor A like family 1216 2004-08-16 2016-02-15 2023-01-20 340543 ENSG00000204065 OTTHUMG00000022092 uc004ejz.3 NM_001012979 CCDS35356 Q5H9L2 16221301 MGI:3036236 RGD:1594149 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCEAL5 HGNC:22282 "ENST00000372680.2|NM_001012979.3" HGNC:24553 TCEAL6 transcription elongation factor A like 6 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 WEX2 transcription elongation factor A (SII)-like 6 Transcription elongation factor A like family 1216 2005-10-13 2016-02-15 2023-03-15 158931 ENSG00000204071 OTTHUMG00000022050 uc065ajd.1 BC071675 NM_001006938 Q6IPX3 16221301 MGI:1923939 HGNC:24553 @@ -38371,16 +38374,16 @@ HGNC:23533 TCERG1L transcription elongation regulator 1 like protein-coding gene HGNC:49532 TCERG1L-AS1 TCERG1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Antisense RNAs 1987 2014-01-08 2014-01-08 101927489 ENSG00000230098 OTTHUMG00000019275 "BQ007413|BQ011025|BQ011765" XR_242764 TCERG1L-AS1 HGNC:49532 HGNC:55056 TCERG1P1 TCERG1 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 100420957 ENSG00000224314 NG_026877 HGNC:55057 TCERG1P2 TCERG1 pseudogene 2 pseudogene pseudogene Approved 16p12.3 16p12.3 2020-06-04 2020-06-04 100421029 ENSG00000260675 NG_026350 PGOHUM00000293448 -HGNC:11633 TCF3 transcription factor 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "E2A|ITF1|MGC129647|MGC129648|bHLHb21|VDIR|E47|p75" "transcription factor E2-alpha|immunoglobulin transcription factor 1|kappa-E2-binding factor|E2A immunoglobulin enhancer-binding factor E12/E47|VDR interacting repressor" Basic helix-loop-helix proteins 420 1990-07-26 2013-02-26 2023-01-20 6929 ENSG00000071564 OTTHUMG00000180031 uc002ltr.3 M65214 NM_003200 "CCDS45899|CCDS12074" P15923 "2308859|1967983" MGI:98510 RGD:620914 LRG_1325|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1325.xml TCF3 147141 171640 HGNC:11633 "ENST00000262965.12|NM_003200.5" HGNC:11633 +HGNC:11633 TCF3 transcription factor 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "E2A|ITF1|MGC129647|MGC129648|bHLHb21|VDIR|E47|p75" "transcription factor E2-alpha|immunoglobulin transcription factor 1|kappa-E2-binding factor|E2A immunoglobulin enhancer-binding factor E12/E47|VDR interacting repressor" Basic helix-loop-helix proteins 420 1990-07-26 2013-02-26 2023-01-20 6929 ENSG00000071564 OTTHUMG00000180031 uc002ltr.3 M65214 NM_003200 "CCDS12074|CCDS45899" P15923 "2308859|1967983" MGI:98510 RGD:620914 LRG_1325|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1325.xml TCF3 147141 171640 HGNC:11633 "ENST00000262965.12|NM_003200.5" HGNC:11633 HGNC:49742 TCF3P1 transcription factor 3 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 2014-02-13 2014-02-13 100129107 ENSG00000236567 OTTHUMG00000019487 NG_009760 PGOHUM00000263534 HGNC:49742 -HGNC:11634 TCF4 transcription factor 4 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "SEF2-1B|ITF2|bHLHb19|E2-2" "SL3-3 enhancer factor 2|class B basic helix-loop-helix protein 19|immunoglobulin transcription factor 2" Basic helix-loop-helix proteins 420 1990-10-16 2023-03-15 6925 ENSG00000196628 OTTHUMG00000132713 uc002lfz.3 M74719 NM_003199 "CCDS77192|CCDS58628|CCDS58629|CCDS58627|CCDS58625|CCDS58623|CCDS58631|CCDS58624|CCDS86672|CCDS58626|CCDS58630|CCDS59321|CCDS11960|CCDS77191|CCDS82255|CCDS42438|CCDS86671" P15884 "9302263|2308860" MGI:98506 RGD:69271 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCF4 602272 158595 HGNC:11634 "ENST00000354452.8|NM_001083962.2" HGNC:11634 +HGNC:11634 TCF4 transcription factor 4 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "SEF2-1B|ITF2|bHLHb19|E2-2" "SL3-3 enhancer factor 2|class B basic helix-loop-helix protein 19|immunoglobulin transcription factor 2" Basic helix-loop-helix proteins 420 1990-10-16 2023-03-15 6925 ENSG00000196628 OTTHUMG00000132713 uc002lfz.3 M74719 NM_003199 "CCDS86671|CCDS11960|CCDS42438|CCDS77192|CCDS77191|CCDS58623|CCDS58624|CCDS58630|CCDS58628|CCDS58625|CCDS58631|CCDS58629|CCDS58627|CCDS58626|CCDS82255|CCDS86672|CCDS59321" P15884 "9302263|2308860" MGI:98506 RGD:69271 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCF4 602272 158595 HGNC:11634 "ENST00000354452.8|NM_001083962.2" HGNC:11634 HGNC:51642 TCF4-AS1 TCF4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 MIR4529HG MIR4529 host gene Antisense RNAs 1987 2015-04-09 2015-04-09 105372127 ENSG00000267028 OTTHUMG00000179868 NR_132985 TCF4-AS1 HGNC:51642 HGNC:51643 TCF4-AS2 TCF4 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 Antisense RNAs 1987 2015-04-09 2015-04-09 106480339 ENSG00000267402 OTTHUMG00000179869 TCF4-AS2 -HGNC:11639 TCF7 transcription factor 7 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 TCF-1 T-cell-factor-7 transcription factor 7 (T-cell specific, HMG-box) "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1991-08-18 2017-05-12 2023-01-20 6932 ENSG00000081059 OTTHUMG00000129124 uc003kyt.4 Z47362 NM_201634 "CCDS43362|CCDS4169|CCDS47263|CCDS4170" P36402 MGI:98507 RGD:1305894 189908 HGNC:11639 "ENST00000342854.10|NM_003202.5" +HGNC:11639 TCF7 transcription factor 7 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 TCF-1 T-cell-factor-7 transcription factor 7 (T-cell specific, HMG-box) "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1991-08-18 2017-05-12 2023-01-20 6932 ENSG00000081059 OTTHUMG00000129124 uc003kyt.4 Z47362 NM_201634 "CCDS43362|CCDS4169|CCDS4170|CCDS47263" P36402 MGI:98507 RGD:1305894 189908 HGNC:11639 "ENST00000342854.10|NM_003202.5" HGNC:11640 TCF7L1 transcription factor 7 like 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 TCF3 transcription factor 7-like 1 (T-cell specific, HMG-box) "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1998-01-20 2016-02-01 2023-01-20 83439 ENSG00000152284 OTTHUMG00000130026 uc002soy.4 X62870 NM_031283 CCDS1971 Q9HCS4 "1741298|11085512" MGI:1202876 RGD:1311671 604652 HGNC:11640 "ENST00000282111.4|NM_031283.3" HGNC:41388 TCF7L1-IT1 TCF7L1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 TCF7L1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874334 ENSG00000231134 OTTHUMG00000153211 uc061ley.1 NR_046797 TCF7L1-IT1 HGNC:41388 -HGNC:11641 TCF7L2 transcription factor 7 like 2 protein-coding gene gene with protein product Approved 10q25.2-q25.3 10q25.2-q25.3 TCF-4 TCF4 transcription factor 7-like 2 (T-cell specific, HMG-box) "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1998-01-20 2016-02-01 2023-01-20 6934 ENSG00000148737 OTTHUMG00000019070 uc001lac.5 X62871 NM_030756 "CCDS53577|CCDS55729|CCDS73196|CCDS86148|CCDS91348|CCDS53578|CCDS81504|CCDS73197|CCDS7576|CCDS73198|CCDS91349|CCDS91350" Q9NQB0 1741298 MGI:1202879 RGD:1583621 TCF7L2 602228 471198 HGNC:11641 "ENST00000355995.9|NM_001367943.1" HGNC:11641 -HGNC:11623 TCF12 transcription factor 12 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "HEB|HTF4|HsT17266|bHLHb20|p64" helix-loop-helix transcription factor 4 Basic helix-loop-helix proteins 420 1994-06-17 2008-07-31 2023-01-20 6938 ENSG00000140262 OTTHUMG00000132047 uc002aea.4 BC050556 NM_003205 "CCDS10160|CCDS76761|CCDS76760|CCDS10159|CCDS42042" Q99081 1886779 MGI:101877 RGD:3829 TCF12 600480 330703 HGNC:11623 "ENST00000333725.10|NM_207037.2" HGNC:11623 +HGNC:11641 TCF7L2 transcription factor 7 like 2 protein-coding gene gene with protein product Approved 10q25.2-q25.3 10q25.2-q25.3 TCF-4 TCF4 transcription factor 7-like 2 (T-cell specific, HMG-box) "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1998-01-20 2016-02-01 2023-01-20 6934 ENSG00000148737 OTTHUMG00000019070 uc001lac.5 X62871 NM_030756 "CCDS53577|CCDS91348|CCDS73196|CCDS91349|CCDS55729|CCDS73198|CCDS91350|CCDS81504|CCDS53578|CCDS86148|CCDS73197|CCDS7576" Q9NQB0 1741298 MGI:1202879 RGD:1583621 TCF7L2 602228 471198 HGNC:11641 "ENST00000355995.9|NM_001367943.1" HGNC:11641 +HGNC:11623 TCF12 transcription factor 12 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "HEB|HTF4|HsT17266|bHLHb20|p64" helix-loop-helix transcription factor 4 Basic helix-loop-helix proteins 420 1994-06-17 2008-07-31 2023-01-20 6938 ENSG00000140262 OTTHUMG00000132047 uc002aea.4 BC050556 NM_003205 "CCDS42042|CCDS76761|CCDS10160|CCDS76760|CCDS10159" Q99081 1886779 MGI:101877 RGD:3829 TCF12 600480 330703 HGNC:11623 "ENST00000333725.10|NM_207037.2" HGNC:11623 HGNC:27078 TCF12-DT TCF12 divergent transcript non-coding RNA RNA, long non-coding Approved 15q21.3 15q21.3 Divergent transcripts 1990 2022-10-17 2022-10-17 145783 ENSG00000285331 NR_015419 HGNC:11627 TCF15 transcription factor 15 protein-coding gene gene with protein product Approved 20p13 20p13 "EC2|PARAXIS|bHLHa40" transcription factor 15 (basic helix-loop-helix) Basic helix-loop-helix proteins 420 1995-02-21 2017-02-27 2023-01-20 6939 ENSG00000125878 OTTHUMG00000031640 uc002wdz.4 NM_004609 CCDS33432 Q12870 "8825648|8041747" MGI:104664 RGD:1308464 601010 HGNC:11627 "ENST00000246080.4|NM_004609.4" HGNC:11629 TCF19 transcription factor 19 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 SC1 PHD finger proteins 88 1995-08-14 2009-02-05 2023-01-20 6941 ENSG00000137310 OTTHUMG00000031274 uc063mzg.1 U25826 NM_007109 CCDS43446 Q9Y242 "1868030|8595903" MGI:103180 RGD:1302974 600912 HGNC:11629 "ENST00000376257.8|NM_007109.3" @@ -38394,13 +38397,13 @@ HGNC:11791 TCHH trichohyalin protein-coding gene gene with protein product Appro HGNC:31796 TCHHL1 trichohyalin like 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "S100A17|THHL1" "S100 calcium binding protein A17|trichohyalin-like 1" S100 fused type protein family 1350 2004-08-11 2006-01-27 2015-11-11 2023-01-20 126637 ENSG00000182898 OTTHUMG00000013058 uc001ezo.1 NM_001008536 CCDS30857 Q5QJ38 MGI:1918575 RGD:1308305 HGNC:31796 "ENST00000368806.2|NM_001008536.2" HGNC:28135 TCHP trichoplein keratin filament binding protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "MGC10854|TpMs" mitostatin trichoplein, keratin filament binding 2006-01-27 2016-03-14 2023-01-20 84260 ENSG00000139437 OTTHUMG00000169281 uc001tpn.4 AK092736 NM_032300 CCDS9137 Q9BT92 "15731013|20930847" MGI:1925082 RGD:1310813 612654 HGNC:28135 "ENST00000405876.9|NM_001143852.2" HGNC:1357 TCIM transcriptional and immune response regulator protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "TC-1|hTC-1|TC1" human thyroid cancer 1 C8orf4 chromosome 8 open reading frame 4 2000-07-12 2017-08-09 2017-08-09 2023-01-20 56892 ENSG00000176907 OTTHUMG00000164045 uc003xnq.3 AF268037 NM_020130 CCDS6115 Q9NR00 "11056052|24937306" MGI:1916318 RGD:6499724 607702 HGNC:1357 "ENST00000315792.5|NM_020130.5" -HGNC:11647 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "TIRC7|OC-116|OC116|ATP6N1C|Atp6i|a3|ATP6V0A3" "T-cell immune response cDNA 7|V-ATPase subunit a3" "T-cell, immune regulator 1|T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3|T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3|T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3" "V-type ATPase subunits|MicroRNA protein coding host genes" "415|1691" 1999-02-15 2017-12-06 2023-01-20 10312 ENSG00000110719 OTTHUMG00000167358 uc001one.4 AF025374 NM_006019 "CCDS8177|CCDS53670" Q13488 "8579597|9806637" MGI:1350931 RGD:735136 "TCIRG1base: Mutation registry for autosomal recessive osteopetrosis|http://structure.bmc.lu.se/idbase/TCIRG1base/|LRG_115|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_115.xml" 604592 119990 objectId:825 HGNC:11647 "ENST00000265686.8|NM_006019.4" HGNC:11647 +HGNC:11647 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "TIRC7|OC-116|OC116|ATP6N1C|Atp6i|a3|ATP6V0A3" "T-cell immune response cDNA 7|V-ATPase subunit a3" "T-cell, immune regulator 1|T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3|T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3|T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3" "V-type ATPase subunits|MicroRNA protein coding host genes" "415|1691" 1999-02-15 2017-12-06 2023-01-20 10312 ENSG00000110719 OTTHUMG00000167358 uc001one.4 AF025374 NM_006019 "CCDS53670|CCDS8177" Q13488 "8579597|9806637" MGI:1350931 RGD:735136 "TCIRG1base: Mutation registry for autosomal recessive osteopetrosis|http://structure.bmc.lu.se/idbase/TCIRG1base/|LRG_115|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_115.xml" 604592 119990 objectId:825 HGNC:11647 "ENST00000265686.8|NM_006019.4" HGNC:11647 HGNC:11648 TCL1A TCL1 family AKT coactivator A protein-coding gene gene with protein product Approved 14q32.13 14q32.13 TCL1 T cell leukemia/lymphoma 1A 1998-12-03 2020-04-30 2023-01-20 8115 ENSG00000100721 OTTHUMG00000171390 uc001yfc.4 X82240 NM_001098725 CCDS9941 P56279 "2783489|7809072" MGI:1097166 RGD:1594686 TCL1A 186960 330909 HGNC:11648 "ENST00000402399.6|NM_021966.3" HGNC:11649 TCL1B TCL1 family AKT coactivator B protein-coding gene gene with protein product Approved 14q32.13 14q32.13 TML1 TCL1/MTCP1-like 1 T cell leukemia/lymphoma 1B 1998-12-03 2020-04-30 2023-01-20 9623 ENSG00000213231 OTTHUMG00000028912 uc001yez.3 AB018563 NM_004918 CCDS32151 O95988 "10077617|10344735" "MGI:1351600|MGI:1351601|MGI:1351604|MGI:1351609|MGI:1351635" 603769 HGNC:11649 "ENST00000340722.8|NM_004918.4" HGNC:13463 TCL6 T cell leukemia/lymphoma 6 non-coding RNA RNA, long non-coding Approved 14q32.13 14q32.13 "TCL6e1|TNG2|TNG1" "T-cell leukemia/lymphoma 6|T-cell leukemia/lymphoma 6 (non-protein coding)|T cell leukemia/lymphoma 6 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-02-07 2018-05-16 2023-03-15 27004 ENSG00000187621 OTTHUMG00000149979 uc001yeu.3 AB035338 NR_028288 "10588720|10851082" 604412 TCL6 HGNC:13463 HGNC:11652 TCN1 transcobalamin 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "TCI|TC1" "haptocorin|haptocorrin" "transcobalamin I (vitamin B12 binding protein, R binder family)|transcobalamin I" 1990-06-11 2015-12-08 2023-01-20 6947 ENSG00000134827 OTTHUMG00000167400 uc001noj.3 J05068 NM_001062 CCDS7978 P20061 189905 471200 HGNC:11652 "ENST00000257264.4|NM_001062.4" -HGNC:11653 TCN2 transcobalamin 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "D22S676|D22S750|TC2" macrocytic anemia "transcobalamin II; macrocytic anemia|transcobalamin II" 2001-06-22 2015-12-08 2023-01-20 6948 ENSG00000185339 OTTHUMG00000151095 uc003aip.3 NM_000355 "CCDS54519|CCDS13881" P20062 "1708393|7742531" MGI:98534 RGD:620681 "TCN2base: Mutation registry for Transcobalamin II deficiency|http://structure.bmc.lu.se/idbase/TCN2base/|LRG_116|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_116.xml" 613441 119999 HGNC:11653 "ENST00000215838.8|NM_000355.4" HGNC:11653 -HGNC:11654 TCOF1 treacle ribosome biogenesis factor 1 protein-coding gene gene with protein product Approved 5q32-q33.1 05q32-q33.1 "treacle|TCS" Treacher Collins-Franceschetti syndrome 1 Ribosomal biogenesis factors 1729 1991-05-21 2016-02-17 2023-01-20 6949 ENSG00000070814 OTTHUMG00000130081 uc003lry.4 NM_001008656 "CCDS43388|CCDS93805|CCDS47307|CCDS54936|CCDS47306|CCDS4306|CCDS47305" Q13428 1765376 MGI:892003 RGD:1309850 LOVD TCOF1 mutation database|http://databases.lovd.nl/my_genome/genes/TCOF1 606847 120003 HGNC:11654 "ENST00000643257.2|NM_001371623.1" HGNC:11654 +HGNC:11653 TCN2 transcobalamin 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "D22S676|D22S750|TC2" macrocytic anemia "transcobalamin II; macrocytic anemia|transcobalamin II" 2001-06-22 2015-12-08 2023-01-20 6948 ENSG00000185339 OTTHUMG00000151095 uc003aip.3 NM_000355 "CCDS13881|CCDS54519" P20062 "1708393|7742531" MGI:98534 RGD:620681 "TCN2base: Mutation registry for Transcobalamin II deficiency|http://structure.bmc.lu.se/idbase/TCN2base/|LRG_116|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_116.xml" 613441 119999 HGNC:11653 "ENST00000215838.8|NM_000355.4" HGNC:11653 +HGNC:11654 TCOF1 treacle ribosome biogenesis factor 1 protein-coding gene gene with protein product Approved 5q32-q33.1 05q32-q33.1 "treacle|TCS" Treacher Collins-Franceschetti syndrome 1 Ribosomal biogenesis factors 1729 1991-05-21 2016-02-17 2023-01-20 6949 ENSG00000070814 OTTHUMG00000130081 uc003lry.4 NM_001008656 "CCDS47305|CCDS47307|CCDS43388|CCDS4306|CCDS47306|CCDS93805|CCDS54936" Q13428 1765376 MGI:892003 RGD:1309850 LOVD TCOF1 mutation database|http://databases.lovd.nl/my_genome/genes/TCOF1 606847 120003 HGNC:11654 "ENST00000643257.2|NM_001371623.1" HGNC:11654 HGNC:11655 TCP1 t-complex 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "D6S230E|CCT1|Ccta" "Chaperonins|Small nucleolar RNA protein coding host genes" "587|1835" 2001-06-22 2023-01-20 6950 ENSG00000120438 OTTHUMG00000015937 uc003qsr.4 X52882 NM_030752 "CCDS5269|CCDS43522" P17987 "3476253|3653076" MGI:98535 RGD:3832 186980 HGNC:11655 "ENST00000321394.12|NM_030752.3" HGNC:11659 TCP1P1 t-complex 1 pseudogene 1 pseudogene pseudogene Approved 7p14.1 07p14.1 TCP1L1 t-complex 1-like 1 2001-06-22 2008-09-22 2008-09-22 2014-11-19 647047 ENSG00000229161 OTTHUMG00000155181 NG_006549 PGOHUM00000233205 HGNC:11659 HGNC:11660 TCP1P2 t-complex 1 pseudogene 2 pseudogene pseudogene Approved 5p13.1 05p13.1 TCP1L2 t-complex 1-like 2 2001-06-22 2008-09-22 2008-09-22 2014-11-19 6952 NG_003036 HGNC:11660 @@ -38408,7 +38411,7 @@ HGNC:21630 TCP1P3 t-complex 1 pseudogene 3 pseudogene pseudogene Approved 12p12. HGNC:11657 TCP10L t-complex 10 like protein-coding gene gene with protein product Approved 21q22.11 21q22.11 PRED77 "t-complex 10 (a murine tcp homolog)-like|t-complex 10 (mouse)-like" 2000-05-23 2017-02-21 2023-01-20 140290 ENSG00000242220 OTTHUMG00000064901 uc002ypw.5 AF115967 NM_144659 CCDS13616 Q8TDR4 10830953 "MGI:98541|MGI:98542|MGI:98543" 608365 471202 HGNC:11657 "ENST00000300258.8|NM_144659.7" HGNC:21254 TCP10L2 t-complex 10 like 2, pseudogene pseudogene pseudogene Approved 6q27 06q27 bA517H2.3 "t-complex 10-like 2 (mouse)|t-complex 10-like 2|t-complex 10 like 2" 2003-11-27 2020-03-20 2023-03-15 401285 ENSG00000166984 OTTHUMG00000016014 uc010kkp.3 XR_001743415 RGD:1307454 HGNC:21254 HGNC:11656 TCP10L3 t-complex 10 like 3, pseudogene pseudogene pseudogene Approved 6q27 06q27 TCP10 "t-complex 10 (a murine tcp homolog)|t-complex 10 (mouse)|t-complex 10 homolog (mouse)|t-complex 10" 1989-06-30 2020-03-20 2020-03-20 2023-03-15 6953 ENSG00000203690 OTTHUMG00000016026 uc003qvv.2 U03399 NR_163193 8111376 187020 HGNC:11656 -HGNC:11658 TCP11 t-complex 11 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "KIAA0229|FPPR" fertilization-promoting peptide receptor D6S230E "t-complex 11 (a murine tcp homolog)|t-complex 11 homolog (mouse)|t-complex 11, testis-specific" 1992-11-25 2016-03-14 2023-01-20 6954 ENSG00000124678 OTTHUMG00000014560 uc003oka.4 NM_001093728 "CCDS47413|CCDS59017|CCDS59016|CCDS4799|CCDS59015|CCDS59018" Q8WWU5 "1427894|11756566|21597245" MGI:98544 RGD:1359387 186982 HGNC:11658 "ENST00000311875.11|NM_001370687.1" +HGNC:11658 TCP11 t-complex 11 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "KIAA0229|FPPR" fertilization-promoting peptide receptor D6S230E "t-complex 11 (a murine tcp homolog)|t-complex 11 homolog (mouse)|t-complex 11, testis-specific" 1992-11-25 2016-03-14 2023-01-20 6954 ENSG00000124678 OTTHUMG00000014560 uc003oka.4 NM_001093728 "CCDS59017|CCDS47413|CCDS59018|CCDS4799|CCDS59015|CCDS59016" Q8WWU5 "1427894|11756566|21597245" MGI:98544 RGD:1359387 186982 HGNC:11658 "ENST00000311875.11|NM_001370687.1" HGNC:25655 TCP11L1 t-complex 11 like 1 protein-coding gene gene with protein product Approved 11p13 11p13 FLJ11336 "t-complex 11 (mouse) like 1|t-complex 11, testis-specific-like 1" 2005-10-04 2016-03-14 2023-01-20 55346 ENSG00000176148 OTTHUMG00000165303 uc001mud.3 BC041696 NM_018393 CCDS7882 Q9NUJ3 MGI:2444263 RGD:1562313 HGNC:25655 "ENST00000334274.9|NM_018393.4" HGNC:28627 TCP11L2 t-complex 11 like 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 MGC40368 "t-complex 11 (mouse) like 2|t-complex 11 (mouse)-like 2|t-complex 11, testis-specific-like 2" 2005-10-04 2016-03-14 2023-01-20 255394 ENSG00000166046 OTTHUMG00000170087 uc001tln.5 BC033617 NM_152772 "CCDS9104|CCDS66456" Q8N4U5 MGI:2444679 RGD:1307494 619889 HGNC:28627 "ENST00000299045.8|NM_152772.3" HGNC:28627 HGNC:48369 TCP11X1 t-complex 11 family, X-linked 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 2013-05-14 2017-02-10 100996631 ENSG00000268235 OTTHUMG00000022051 NM_001368158 B4DZS4 MGI:1919091 PGOHUM00000306176 HGNC:48369 @@ -38416,9 +38419,9 @@ HGNC:48335 TCP11X2 t-complex 11 family, X-linked 2 protein-coding gene gene with HGNC:48370 TCP11X3P t-complex 11 family, X-linked 3, pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 2013-05-14 2015-02-10 106481605 ENSG00000251525 OTTHUMG00000189498 NG_044465 PGOHUM00000241915 HGNC:48370 HGNC:11692 TCTA T cell leukemia translocation altered protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "T-cell leukemia translocation altered gene|T-cell leukemia translocation altered" 1995-08-11 2017-12-06 2023-01-20 6988 ENSG00000145022 OTTHUMG00000156846 uc003cwv.5 NM_022171 CCDS2796 P57738 7728759 MGI:1918829 RGD:1359333 600690 HGNC:11692 "ENST00000273590.4|NM_022171.3" HGNC:11693 TCTE1 t-complex-associated-testis-expressed 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "D6S46|MGC33600|FAP155|DRC5" Dynein regulatory complex 981 1990-10-25 2023-01-20 202500 ENSG00000146221 OTTHUMG00000014763 uc003oxi.3 BC035022 NM_182539 CCDS4910 Q5JU00 "2568335|8646886" MGI:98640 RGD:1305744 186975 HGNC:11693 "ENST00000371505.5|NM_182539.4" -HGNC:26113 TCTN1 tectonic family member 1 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "FLJ21127|TECT1|JBTS13" "Tectonic proteins|MKS complex" "767|1545" 2007-08-20 2023-01-20 79600 ENSG00000204852 OTTHUMG00000150051 uc001trn.6 AK055891 NM_024549 "CCDS41834|CCDS41835|CCDS91749|CCDS41833" Q2MV58 16357211 MGI:3603820 RGD:1566266 609863 274226 HGNC:26113 "ENST00000397659.9|NM_001082538.3" HGNC:26113 -HGNC:25774 TCTN2 tectonic family member 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ12975|TECT2|MKS8|JBTS24" Meckel syndrome, type 8 C12orf38 chromosome 12 open reading frame 38 "Tectonic proteins|MKS complex" "767|1545" 2006-01-23 2007-08-20 2007-08-20 2023-01-20 79867 ENSG00000168778 OTTHUMG00000168700 uc001ufp.3 AK056924 NM_024809 "CCDS45007|CCDS91766|CCDS9253" Q96GX1 21462283 MGI:1915228 RGD:1591895 613846 260361 HGNC:25774 "ENST00000303372.7|NM_024809.5" HGNC:25774 -HGNC:24519 TCTN3 tectonic family member 3 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "DKFZP564D116|TECT3|JBTS18" C10orf61 chromosome 10 open reading frame 61 Tectonic proteins 767 2004-05-27 2007-08-20 2007-08-20 2023-01-20 26123 ENSG00000119977 OTTHUMG00000018814 uc001klb.4 AK098295 NM_015631 "CCDS31258|CCDS44461|CCDS91309" Q6NUS6 12975309 MGI:1914840 RGD:1305166 613847 310043 HGNC:24519 "ENST00000371217.10|NM_015631.6" HGNC:24519 +HGNC:26113 TCTN1 tectonic family member 1 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "FLJ21127|TECT1|JBTS13" "Tectonic proteins|MKS complex" "767|1545" 2007-08-20 2023-01-20 79600 ENSG00000204852 OTTHUMG00000150051 uc001trn.6 AK055891 NM_024549 "CCDS91749|CCDS41833|CCDS41835|CCDS41834" Q2MV58 16357211 MGI:3603820 RGD:1566266 609863 274226 HGNC:26113 "ENST00000397659.9|NM_001082538.3" HGNC:26113 +HGNC:25774 TCTN2 tectonic family member 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ12975|TECT2|MKS8|JBTS24" Meckel syndrome, type 8 C12orf38 chromosome 12 open reading frame 38 "Tectonic proteins|MKS complex" "767|1545" 2006-01-23 2007-08-20 2007-08-20 2023-01-20 79867 ENSG00000168778 OTTHUMG00000168700 uc001ufp.3 AK056924 NM_024809 "CCDS91766|CCDS45007|CCDS9253" Q96GX1 21462283 MGI:1915228 RGD:1591895 613846 260361 HGNC:25774 "ENST00000303372.7|NM_024809.5" HGNC:25774 +HGNC:24519 TCTN3 tectonic family member 3 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "DKFZP564D116|TECT3|JBTS18" C10orf61 chromosome 10 open reading frame 61 Tectonic proteins 767 2004-05-27 2007-08-20 2007-08-20 2023-01-20 26123 ENSG00000119977 OTTHUMG00000018814 uc001klb.4 AK098295 NM_015631 "CCDS44461|CCDS31258|CCDS91309" Q6NUS6 12975309 MGI:1914840 RGD:1305166 613847 310043 HGNC:24519 "ENST00000371217.10|NM_015631.6" HGNC:24519 HGNC:11700 TDG thymine DNA glycosylase protein-coding gene gene with protein product Approved 12q23.3 12q23.3 G/T mismatch-specific thymine DNA glycosylase DNA glycosylases 1024 1997-04-25 2015-06-23 2023-01-20 6996 ENSG00000139372 OTTHUMG00000168418 uc001tkg.4 U51166 NM_001363612 "CCDS9095|CCDS86330" Q13569 "8662714|9299239" MGI:108247 RGD:620959 601423 3.2.2.29 HGNC:11700 "ENST00000392872.8|NM_003211.6" HGNC:49891 TDGP1 thymine-DNA glycosylase pseudogene 1 pseudogene pseudogene Approved 12p12.1 12p12.1 2014-03-18 2017-03-23 645233 ENSG00000255725 OTTHUMG00000169086 NR_024382 PGOHUM00000291588 HGNC:49891 HGNC:15547 TDH L-threonine dehydrogenase (pseudogene) pseudogene pseudogene Approved 8p23.1 08p23.1 "FLJ25033|SDR14E1P" short chain dehydrogenase/reductase family 14E, member 1 (pseudogene) L-threonine dehydrogenase Short chain dehydrogenase/reductase superfamily 743 2001-04-25 2013-09-26 2020-04-20 157739 ENSG00000154316 OTTHUMG00000165365 AJ301562 NR_001578 Q8IZJ6 "11896452|12361482|19027726" MGI:1926231 RGD:1310214 615174 HGNC:15547 @@ -38426,42 +38429,42 @@ HGNC:55510 TDH-AS1 TDH antisense RNA 1 non-coding RNA RNA, long non-coding Appro HGNC:11708 TDO2 tryptophan 2,3-dioxygenase protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "TDO|TPH2" 1989-05-29 2023-01-20 6999 ENSG00000151790 OTTHUMG00000161838 uc003ipf.3 NM_005651 CCDS34086 P48775 MGI:1928486 RGD:68370 191070 471250 objectId:2887 1.13.11.11 HGNC:11708 "ENST00000536354.3|NM_005651.4" HGNC:11708 HGNC:18884 TDP1 tyrosyl-DNA phosphodiesterase 1 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "FLJ11090|SCAN1" 2002-07-13 2023-01-20 55775 ENSG00000042088 OTTHUMG00000171016 uc001xxy.4 AF182002 NM_018319 "CCDS81836|CCDS9888" Q9NUW8 "11839309|12244316" MGI:1920036 RGD:1309618 607198 120006 HGNC:18884 "ENST00000335725.9|NM_018319.4" HGNC:18884 HGNC:17768 TDP2 tyrosyl-DNA phosphodiesterase 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 TTRAP TRAF and TNF receptor associated protein 2003-05-02 2010-05-07 2010-05-07 2023-01-20 51567 ENSG00000111802 OTTHUMG00000014360 uc003nej.4 AJ269473 NM_016614 CCDS4557 O95551 11478795 MGI:1860486 RGD:1560342 605764 406901 3.1.4.- HGNC:17768 "ENST00000378198.9|NM_016614.3" HGNC:17768 -HGNC:11712 TDRD1 tudor domain containing 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 CT41.1 cancer/testis antigen 41.1 "Zinc fingers MYND-type|Tudor domain containing" "87|780" 2000-06-16 2023-01-20 56165 ENSG00000095627 OTTHUMG00000019083 uc001lbg.1 AF285606 NM_001365891 "CCDS7588|CCDS91353|CCDS91354|CCDS91352" Q9BXT4 11279525 MGI:1933218 RGD:1306140 605796 HGNC:11712 "ENST00000695399.1|NM_001395205.1" -HGNC:20612 TDRD3 tudor domain containing 3 protein-coding gene gene with protein product Approved 13q21.2 13q21.2 FLJ21007 Tudor domain containing 780 2003-03-05 2023-01-20 81550 ENSG00000083544 OTTHUMG00000017007 uc001vhz.5 AK023578 NM_030794 "CCDS53872|CCDS9441" Q9H7E2 MGI:2444023 RGD:1310126 614392 HGNC:20612 "ENST00000377881.8|NM_001146070.2" -HGNC:20614 TDRD5 tudor domain containing 5 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "FLJ34823|TUDOR3" Tudor domain containing 780 2003-03-05 2023-01-20 163589 ENSG00000162782 OTTHUMG00000035259 uc021pfm.3 AK092142 NM_173533 "CCDS55663|CCDS1332" Q8NAT2 MGI:2684949 RGD:1307078 617748 HGNC:20614 "ENST00000444136.6|NM_001199085.3" +HGNC:11712 TDRD1 tudor domain containing 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 CT41.1 cancer/testis antigen 41.1 "Zinc fingers MYND-type|Tudor domain containing" "87|780" 2000-06-16 2023-01-20 56165 ENSG00000095627 OTTHUMG00000019083 uc001lbg.1 AF285606 NM_001365891 "CCDS91353|CCDS91354|CCDS91352|CCDS7588" Q9BXT4 11279525 MGI:1933218 RGD:1306140 605796 HGNC:11712 "ENST00000695399.1|NM_001395205.1" +HGNC:20612 TDRD3 tudor domain containing 3 protein-coding gene gene with protein product Approved 13q21.2 13q21.2 FLJ21007 Tudor domain containing 780 2003-03-05 2023-01-20 81550 ENSG00000083544 OTTHUMG00000017007 uc001vhz.5 AK023578 NM_030794 "CCDS9441|CCDS53872" Q9H7E2 MGI:2444023 RGD:1310126 614392 HGNC:20612 "ENST00000377881.8|NM_001146070.2" +HGNC:20614 TDRD5 tudor domain containing 5 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "FLJ34823|TUDOR3" Tudor domain containing 780 2003-03-05 2023-01-20 163589 ENSG00000162782 OTTHUMG00000035259 uc021pfm.3 AK092142 NM_173533 "CCDS1332|CCDS55663" Q8NAT2 MGI:2684949 RGD:1307078 617748 HGNC:20614 "ENST00000444136.6|NM_001199085.3" HGNC:21339 TDRD6 tudor domain containing 6 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "NY-CO-45|bA446F17.4|CT41.2|SPATA36" "cancer/testis antigen 41.2|spermatogenesis associated 36" Tudor domain containing 780 2003-11-27 2023-01-20 221400 ENSG00000180113 OTTHUMG00000014788 uc010jze.3 AF039442 NM_001010870 "CCDS34470|CCDS55017" O60522 9610721 MGI:2679727 RGD:1305956 611200 HGNC:21339 "ENST00000316081.11|NM_001010870.3" HGNC:21339 HGNC:56119 TDRD6-AS1 TDRD6 and SLC25A27 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.3 06p12.3 Antisense RNAs 1987 2022-01-07 2022-01-07 101926934 ENSG00000242973 NR_134642 HGNC:30831 TDRD7 tudor domain containing 7 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 PCTAIRE2BP Tudor domain containing 780 2004-04-01 2023-01-20 23424 ENSG00000196116 OTTHUMG00000020326 uc004axj.4 AB025254 NM_014290 CCDS6725 Q8NHU6 21436445 MGI:2140279 RGD:619724 611258 471208 HGNC:30831 "ENST00000355295.5|NM_014290.3" HGNC:30831 HGNC:20122 TDRD9 tudor domain containing 9 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "DKFZp434N0820|FLJ36164|NET54" C14orf75 chromosome 14 open reading frame 75 Tudor domain containing 780 2002-12-18 2004-04-02 2004-04-01 2023-01-20 122402 ENSG00000156414 OTTHUMG00000152876 uc001yom.5 AK093483 NM_153046 CCDS9987 Q8NDG6 MGI:1921941 RGD:1306942 617963 HGNC:20122 "ENST00000409874.9|NM_153046.3" HGNC:20122 HGNC:25316 TDRD10 tudor domain containing 10 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 DKFZp434M202 "RNA binding motif containing|Tudor domain containing" "725|780" 2005-05-31 2023-01-20 126668 ENSG00000163239 OTTHUMG00000037264 uc001ffd.3 AL713777 NM_182499 "CCDS30878|CCDS41406" Q5VZ19 12975309 HGNC:25316 "ENST00000368482.8|NM_182499.4" -HGNC:25044 TDRD12 tudor domain containing 12 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "ECAT8|FLJ13072" Tudor domain containing 780 2007-11-15 2023-01-20 91646 ENSG00000173809 OTTHUMG00000177230 uc002ntq.3 AK023134 NM_001015890 "CCDS92580|CCDS46038" Q587J7 11441184 MGI:1919231 RGD:1562792 471206 HGNC:25044 "ENST00000639142.2|NM_001366102.1" +HGNC:25044 TDRD12 tudor domain containing 12 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "ECAT8|FLJ13072" Tudor domain containing 780 2007-11-15 2023-01-20 91646 ENSG00000173809 OTTHUMG00000177230 uc002ntq.3 AK023134 NM_001015890 "CCDS46038|CCDS92580" Q587J7 11441184 MGI:1919231 RGD:1562792 471206 HGNC:25044 "ENST00000639142.2|NM_001366102.1" HGNC:45037 TDRD15 tudor domain containing 15 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 Tudor domain containing 780 2013-01-22 2013-01-23 2013-01-23 2023-01-20 100129278 ENSG00000218819 OTTHUMG00000151795 uc061gzs.1 NM_001306137 CCDS77385 B5MCY1 RGD:7716193 HGNC:45037 "ENST00000405799.3|NM_001306137.2" HGNC:43642 TDRG1 testis development related 1 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 "LINC00532|lincRNA-NR_024015" "long intergenic non-protein coding RNA 532|testis development related gene 1" testis development related 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2011-12-13 2018-01-05 2022-03-23 732253 ENSG00000204091 OTTHUMG00000014660 uc063oiu.1 DQ168992 NR_160958 "19403381|22123530|24595048" 615676 TDRG1 HGNC:43642 -HGNC:11713 TDRKH tudor and KH domain containing protein-coding gene gene with protein product Approved 1q21.3 01q21.3 TDRD2 Tudor domain containing 780 1999-01-22 2003-11-07 2023-01-20 11022 ENSG00000182134 OTTHUMG00000013062 uc009wnb.2 AF227192 NM_006862 "CCDS41395|CCDS41394" Q9Y2W6 10767542 MGI:1919884 RGD:1311196 609501 HGNC:11713 "ENST00000368824.8|NM_001083965.2" +HGNC:11713 TDRKH tudor and KH domain containing protein-coding gene gene with protein product Approved 1q21.3 01q21.3 TDRD2 Tudor domain containing 780 1999-01-22 2003-11-07 2023-01-20 11022 ENSG00000182134 OTTHUMG00000013062 uc009wnb.2 AF227192 NM_006862 "CCDS41394|CCDS41395" Q9Y2W6 10767542 MGI:1919884 RGD:1311196 609501 HGNC:11713 "ENST00000368824.8|NM_001083965.2" HGNC:40578 TDRKH-AS1 TDRKH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 RP11-98D18.9 Antisense RNAs 1987 2016-12-09 2021-10-08 109729141 ENSG00000203288 OTTHUMG00000013060 NR_146292 27835578 HGNC:40578 HGNC:26951 TDRP testis development related protein protein-coding gene gene with protein product Approved 8p23.3 08p23.3 "INM01|TDRP1|TDRP2" C8orf42 chromosome 8 open reading frame 42 2005-07-28 2013-06-03 2013-06-03 2023-01-20 157695 ENSG00000180190 OTTHUMG00000163593 AY194292 NM_175075 "CCDS47759|CCDS59090" Q86YL5 20170638 MGI:1919398 RGD:1559733 619049 HGNC:26951 "ENST00000324079.11|NM_001384899.1" HGNC:11714 TEAD1 TEA domain transcription factor 1 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 TEF-1 transcriptional enhancer factor 1 "TCF13|AA" "atrophia areata, peripapillary chorioretinal degeneration|TEA domain family member 1 (SV40 transcriptional enhancer factor)" TEA domain transcription factors 1183 1994-09-22 2016-01-15 2023-01-20 7003 ENSG00000187079 OTTHUMG00000165878 uc021qdx.2 X84839 NM_021961 CCDS7810 P28347 "1851669|9889009|15016762" MGI:101876 RGD:1549742 189967 120010 HGNC:11714 "ENST00000527636.7|NM_021961.6" HGNC:11714 -HGNC:11715 TEAD2 TEA domain transcription factor 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "TEF-4|ETF|TEF4" TEA domain family member 2 TEA domain transcription factors 1183 1998-10-09 2016-01-15 2023-01-20 8463 ENSG00000074219 OTTHUMG00000183174 uc002pnj.5 X94440 NM_003598 "CCDS59406|CCDS58670|CCDS58671|CCDS12761" Q15562 "9889009|8702974" MGI:104904 RGD:1593252 601729 HGNC:11715 "ENST00000593945.6|NM_001256660.2" -HGNC:11716 TEAD3 TEA domain transcription factor 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "TEF-5|ETFR-1" TEAD5 TEA domain family member 3 TEA domain transcription factors 1183 1998-08-10 2016-01-15 2023-01-20 7005 ENSG00000007866 OTTHUMG00000014571 uc063obu.1 X94439 NM_001395214 "CCDS93900|CCDS47414" Q99594 "9889009|9148898" MGI:109241 RGD:1311583 603170 HGNC:11716 "ENST00000338863.13|NM_003214.4" -HGNC:11717 TEAD4 TEA domain transcription factor 4 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "TEF-3|TEFR-1|EFTR-2|RTEF-1" transcriptional enhancer factor 3 TCF13L1 TEA domain family member 4 TEA domain transcription factors 1183 1996-08-02 2016-01-15 2023-01-20 7004 ENSG00000197905 OTTHUMG00000168153 uc058jww.1 X94438 NM_003213 "CCDS31730|CCDS41737|CCDS31729" Q15561 "9889009|8921372" MGI:106907 RGD:1585671 601714 HGNC:11717 "ENST00000359864.8|NM_003213.4" +HGNC:11715 TEAD2 TEA domain transcription factor 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "TEF-4|ETF|TEF4" TEA domain family member 2 TEA domain transcription factors 1183 1998-10-09 2016-01-15 2023-01-20 8463 ENSG00000074219 OTTHUMG00000183174 uc002pnj.5 X94440 NM_003598 "CCDS58670|CCDS58671|CCDS59406|CCDS12761" Q15562 "9889009|8702974" MGI:104904 RGD:1593252 601729 HGNC:11715 "ENST00000593945.6|NM_001256660.2" +HGNC:11716 TEAD3 TEA domain transcription factor 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "TEF-5|ETFR-1" TEAD5 TEA domain family member 3 TEA domain transcription factors 1183 1998-08-10 2016-01-15 2023-01-20 7005 ENSG00000007866 OTTHUMG00000014571 uc063obu.1 X94439 NM_001395214 "CCDS47414|CCDS93900" Q99594 "9889009|9148898" MGI:109241 RGD:1311583 603170 HGNC:11716 "ENST00000338863.13|NM_003214.4" +HGNC:11717 TEAD4 TEA domain transcription factor 4 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "TEF-3|TEFR-1|EFTR-2|RTEF-1" transcriptional enhancer factor 3 TCF13L1 TEA domain family member 4 TEA domain transcription factors 1183 1996-08-02 2016-01-15 2023-01-20 7004 ENSG00000197905 OTTHUMG00000168153 uc058jww.1 X94438 NM_003213 "CCDS41737|CCDS31729|CCDS31730" Q15561 "9889009|8921372" MGI:106907 RGD:1585671 601714 HGNC:11717 "ENST00000359864.8|NM_003213.4" HGNC:11719 TEC tec protein tyrosine kinase protein-coding gene gene with protein product Approved 4p12-p11 04p12-p11 PSCTK4 "Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases" "682|741|1457" 1994-12-15 2023-01-20 7006 ENSG00000135605 OTTHUMG00000128623 uc003gxz.4 D29767 NM_003215 CCDS3481 P42680 7934162 MGI:98662 RGD:620973 600583 objectId:2238 HGNC:11719 "ENST00000381501.8|NM_003215.3" HGNC:22214 TECPR1 tectonin beta-propeller repeat containing 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "DKFZP434B0335|FLJ23419|FLJ90593|KIAA1358" 2009-01-30 2023-01-20 25851 ENSG00000205356 OTTHUMG00000154273 uc003upg.5 NM_015395 CCDS47648 Q7Z6L1 MGI:1917631 RGD:1306873 614781 HGNC:22214 "ENST00000447648.7|NM_015395.3" -HGNC:19957 TECPR2 tectonin beta-propeller repeat containing 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 KIAA0329 KIAA0329 2003-11-21 2009-02-27 2009-02-27 2023-01-20 9895 ENSG00000196663 OTTHUMG00000171776 uc001ylw.2 AB019441 NM_014844 "CCDS58337|CCDS32162" O15040 "9205841|26431026" MGI:2144865 RGD:1307503 615000 321589 HGNC:19957 "ENST00000359520.12|NM_014844.5" HGNC:19957 +HGNC:19957 TECPR2 tectonin beta-propeller repeat containing 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 KIAA0329 KIAA0329 2003-11-21 2009-02-27 2009-02-27 2023-01-20 9895 ENSG00000196663 OTTHUMG00000171776 uc001ylw.2 AB019441 NM_014844 "CCDS32162|CCDS58337" O15040 "9205841|26431026" MGI:2144865 RGD:1307503 615000 321589 HGNC:19957 "ENST00000359520.12|NM_014844.5" HGNC:19957 HGNC:4551 TECR trans-2,3-enoyl-CoA reductase protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "TER|MRT14" very-long-chain enoyl-CoA reductase "SC2|GPSN2" glycoprotein, synaptic 2 "MicroRNA protein coding host genes|Steroid 5-alpha reductase family" "1691|1967" 1999-07-22 2009-07-21 2009-07-21 2023-01-20 9524 ENSG00000099797 OTTHUMG00000183290 uc002mza.4 AK001416 NM_138501 CCDS12313 Q9NZ01 "9653160|12482854" MGI:1915408 RGD:620376 610057 265497 1.3.1.93 HGNC:4551 "ENST00000215567.10|NM_138501.6" HGNC:4551 HGNC:27365 TECRL trans-2,3-enoyl-CoA reductase like protein-coding gene gene with protein product Approved 4q13.1 04q13.1 "GPSN2L|SRD5A2L2|DKFZp313D0829|DKFZp313B2333|TERL" glycoprotein, synaptic 2-like Steroid 5-alpha reductase family 1967 2009-07-21 2017-02-20 2023-01-20 253017 ENSG00000205678 OTTHUMG00000160680 uc003hcv.4 AL833108 NM_001010874 "CCDS87229|CCDS33990" Q5HYJ1 27861123 MGI:2444966 RGD:1304608 617242 478126 HGNC:27365 "ENST00000381210.8|NM_001010874.5" HGNC:27365 HGNC:44050 TECRP1 trans-2,3-enoyl-CoA reductase pseudogene 1 pseudogene pseudogene Approved 4q21.3 04q21.3 2012-05-30 2014-11-19 442777 ENSG00000235043 OTTHUMG00000160969 NG_005327 HGNC:44050 HGNC:44051 TECRP2 trans-2,3-enoyl-CoA reductase pseudogene 2 pseudogene pseudogene Approved 4q28.1 04q28.1 2012-05-30 2014-11-19 391696 ENSG00000248565 OTTHUMG00000161388 NG_005322 PGOHUM00000245691 HGNC:44051 HGNC:11720 TECTA tectorin alpha protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "DFNA12|DFNA8|DFNB21" 1997-08-22 2023-01-20 7007 ENSG00000109927 OTTHUMG00000149908 uc058imn.1 AF055136 NM_005422 CCDS8434 O75443 "9503015|9590290" MGI:109575 RGD:1309824 Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org 602574 120015 HGNC:11720 "ENST00000392793.6|NM_005422.4" HGNC:11720 HGNC:11721 TECTB tectorin beta protein-coding gene gene with protein product Approved 10q25.2 10q25.2 MicroRNA protein coding host genes 1691 1997-08-22 2023-01-20 6975 ENSG00000119913 OTTHUMG00000019056 uc001kzr.3 AF312827 NM_058222 CCDS7571 Q96PL2 9079715 MGI:109574 RGD:1305835 602653 HGNC:11721 "ENST00000646139.2|NM_058222.3" -HGNC:20127 TEDC1 tubulin epsilon and delta complex 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 C14orf80 chromosome 14 open reading frame 80 2003-01-13 2017-07-13 2017-07-13 2023-03-15 283643 ENSG00000185347 OTTHUMG00000170426 uc001yrn.4 NM_001134875 "CCDS45180|CCDS91958|CCDS45181|CCDS55955|CCDS45182" Q86SX3 "28796488|29459677" MGI:2144738 RGD:1596085 HGNC:20127 "ENST00000392523.9|NM_001367178.1" +HGNC:20127 TEDC1 tubulin epsilon and delta complex 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 C14orf80 chromosome 14 open reading frame 80 2003-01-13 2017-07-13 2017-07-13 2023-03-15 283643 ENSG00000185347 OTTHUMG00000170426 uc001yrn.4 NM_001134875 "CCDS45182|CCDS45180|CCDS91958|CCDS55955|CCDS45181" Q86SX3 "28796488|29459677" MGI:2144738 RGD:1596085 HGNC:20127 "ENST00000392523.9|NM_001367178.1" HGNC:25849 TEDC2 tubulin epsilon and delta complex 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ13909 C16orf59 chromosome 16 open reading frame 59 MicroRNA protein coding host genes 1691 2006-02-17 2017-07-13 2017-07-13 2023-01-20 80178 ENSG00000162062 OTTHUMG00000128859 uc002cqh.4 AK023971 NM_025108 CCDS10468 Q7L2K0 29459677 MGI:1919266 RGD:2293499 HGNC:25849 "ENST00000361837.9|NM_025108.3" HGNC:55403 TEDC2-AS1 TEDC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2021-01-06 2021-01-06 729652 ENSG00000259895 NR_135198 HGNC:30233 TEDDM1 transmembrane epididymal protein 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "HE9|Epdd1|TMEM45C|EDDM9" "putative membrane protein HE9|transmembrane protein 45C|epididymal protein 9" 2005-06-03 2005-08-09 2023-01-20 127670 ENSG00000203730 OTTHUMG00000037398 uc001gpe.3 AJ515384 NM_172000 CCDS30953 Q5T9Z0 "MGI:2668439|MGI:3646829" RGD:1586783 620288 HGNC:30233 "ENST00000367565.2|NM_172000.4" HGNC:42447 TEDDM2P transmembrane epididymal protein 2, pseudogene pseudogene pseudogene Approved 1q25.3 01q25.3 TEDDM1P1 transmembrane epididymal protein 1 pseudogene 1 2011-07-28 2014-06-30 2014-06-30 2017-03-15 127671 ENSG00000233537 OTTHUMG00000037405 NG_030210 MGI:1923273 PGOHUM00000245115 HGNC:42447 HGNC:56610 TEDDM3P transmembrane epididymal protein 3, pseudogene pseudogene pseudogene Approved 3q27.1 03q27.1 2022-11-04 2022-11-04 391600 ENSG00000283625 NG_022233 MGI:1913811 PGOHUM00000299301 -HGNC:11722 TEF TEF transcription factor, PAR bZIP family member protein-coding gene gene with protein product Approved 22q13.2 22q13.2 KIAA1655 thyrotroph embryonic factor "thyrotrophic embryonic factor|TEF, PAR bZIP transcription factor" PAR bZIP family 1248 1994-07-04 2019-01-25 2023-01-20 7008 ENSG00000167074 OTTHUMG00000150968 uc003azy.5 NM_003216 "CCDS14014|CCDS46716" Q10587 "7835883|15665112" MGI:98663 RGD:3841 188595 HGNC:11722 "ENST00000266304.9|NM_003216.4" +HGNC:11722 TEF TEF transcription factor, PAR bZIP family member protein-coding gene gene with protein product Approved 22q13.2 22q13.2 KIAA1655 thyrotroph embryonic factor "thyrotrophic embryonic factor|TEF, PAR bZIP transcription factor" PAR bZIP family 1248 1994-07-04 2019-01-25 2023-01-20 7008 ENSG00000167074 OTTHUMG00000150968 uc003azy.5 NM_003216 "CCDS46716|CCDS14014" Q10587 "7835883|15665112" MGI:98663 RGD:3841 188595 HGNC:11722 "ENST00000266304.9|NM_003216.4" HGNC:26223 TEFM transcription elongation factor, mitochondrial protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FLJ22729 C17orf42 chromosome 17 open reading frame 42 2005-05-24 2011-12-12 2011-12-12 2023-01-20 79736 ENSG00000172171 OTTHUMG00000179029 uc002hfu.3 NM_024683 CCDS42291 Q96QE5 "11468690|10843809|21278163|25690892" MGI:1915800 RGD:1306595 616422 HGNC:26223 "ENST00000581216.6|NM_024683.4" -HGNC:11724 TEK TEK receptor tyrosine kinase protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "TIE2|TIE-2|VMCM1|CD202b" angiopoietin-1 receptor VMCM "venous malformations, multiple cutaneous and mucosal|TEK tyrosine kinase, endothelial" "Receptor tyrosine kinases|CD molecules|Fibronectin type III domain containing|Immunoglobulin like domain containing" "321|471|555|594" 1994-05-24 2016-01-20 2023-01-20 7010 ENSG00000120156 OTTHUMG00000019712 uc003zqi.5 L06139 NM_000459 "CCDS75825|CCDS6519|CCDS78389" Q02763 "1312667|7833915" MGI:98664 RGD:620980 600221 120020 objectId:1842 CD202b HGNC:11724 "ENST00000380036.10|NM_000459.5" HGNC:11724 +HGNC:11724 TEK TEK receptor tyrosine kinase protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "TIE2|TIE-2|VMCM1|CD202b" angiopoietin-1 receptor VMCM "venous malformations, multiple cutaneous and mucosal|TEK tyrosine kinase, endothelial" "Receptor tyrosine kinases|CD molecules|Fibronectin type III domain containing|Immunoglobulin like domain containing" "321|471|555|594" 1994-05-24 2016-01-20 2023-01-20 7010 ENSG00000120156 OTTHUMG00000019712 uc003zqi.5 L06139 NM_000459 "CCDS75825|CCDS78389|CCDS6519" Q02763 "1312667|7833915" MGI:98664 RGD:620980 600221 120020 objectId:1842 CD202b HGNC:11724 "ENST00000380036.10|NM_000459.5" HGNC:11724 HGNC:15534 TEKT1 tektin 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 Tektins 949 2001-04-25 2023-01-20 83659 ENSG00000167858 OTTHUMG00000102063 uc002gdt.4 NM_053285 CCDS11083 Q969V4 11606253 MGI:1333819 RGD:619913 609002 HGNC:15534 "ENST00000338694.7|NM_053285.2" HGNC:11725 TEKT2 tektin 2 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 TEKTB1 tektin 2 (testicular) Tektins 949 2000-02-16 2016-01-25 2023-01-20 27285 ENSG00000092850 OTTHUMG00000007629 uc001bzr.3 AB033823 NM_014466 CCDS401 Q9UIF3 "12029069|11751288" MGI:1346335 RGD:1311065 608953 HGNC:11725 "ENST00000207457.8|NM_014466.3" HGNC:14293 TEKT3 tektin 3 protein-coding gene gene with protein product Approved 17p12 17p12 FLJ32828 Tektins 949 2000-12-22 2023-01-20 64518 ENSG00000125409 OTTHUMG00000058965 uc002gon.4 AF334676 NM_031898 CCDS11169 Q9BXF9 "11381029|14735490" MGI:1918312 RGD:1310582 612683 HGNC:14293 "ENST00000395930.6|NM_031898.3" @@ -38477,21 +38480,21 @@ HGNC:53456 TEMN3-AS1 TENM3 antisense transcript 1 non-coding RNA RNA, long non-c HGNC:37242 TEN1 TEN1 subunit of CST complex protein-coding gene gene with protein product Approved 17q25.1 17q25.1 FLJ39785 C17orf106 "chromosome 17 open reading frame 106|TEN1 telomerase capping complex subunit homolog (S. cerevisiae)|TEN1 CST complex subunit|TEN1, CST complex subunit" CST complex 1343 2009-09-10 2011-06-14 2019-01-25 2023-01-20 100134934 ENSG00000257949 OTTHUMG00000132686 uc060kgd.1 NM_001113324 CCDS45780 Q86WV5 19854130 MGI:1916785 RGD:1311078 613130 HGNC:37242 "ENST00000397640.6|NM_001113324.3" HGNC:44420 TEN1-CDK3 TEN1-CDK3 readthrough (NMD candidate) other readthrough Approved 17q25.1 17q25.1 TEN1-CDK3 readthrough (non-protein coding) 2012-10-08 2013-05-09 2013-05-09 100529145 ENSG00000261408 OTTHUMG00000170136 uc010dgt.3 NR_037709 HGNC:44420 HGNC:8117 TENM1 teneurin transmembrane protein 1 protein-coding gene gene with protein product Approved Xq25 Xq25 "TEN-M1|TEN1" "ODZ3|TNM|ODZ1" "tenascin M|odz, odd Oz/ten-m homolog 1 (Drosophila)" Teneurin transmembrane protein family 2150 1999-06-21 2012-10-02 2012-10-02 2023-03-15 10178 ENSG00000009694 OTTHUMG00000022721 uc004euj.4 AF100772 NM_014253 CCDS14609 Q9UKZ4 "10331952|10341219" MGI:1345185 RGD:1561678 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ODZ1 300588 HGNC:8117 HGNC:8117 -HGNC:29943 TENM2 teneurin transmembrane protein 2 protein-coding gene gene with protein product Approved 5q34 05q34 "KIAA1127|Ten-M2|TEN2" ODZ2 odz, odd Oz/ten-m homolog 2 (Drosophila) Teneurin transmembrane protein family 2150 2004-06-24 2012-10-02 2012-10-02 2023-01-20 57451 ENSG00000145934 OTTHUMG00000162928 uc031slx.2 AB032953 NM_001122679 "CCDS93818|CCDS93819|CCDS83040" Q9NT68 10625539 MGI:1345184 RGD:727907 610119 HGNC:29943 "ENST00000518659.6|NM_001395460.1" +HGNC:29943 TENM2 teneurin transmembrane protein 2 protein-coding gene gene with protein product Approved 5q34 05q34 "KIAA1127|Ten-M2|TEN2" ODZ2 odz, odd Oz/ten-m homolog 2 (Drosophila) Teneurin transmembrane protein family 2150 2004-06-24 2012-10-02 2012-10-02 2023-01-20 57451 ENSG00000145934 OTTHUMG00000162928 uc031slx.2 AB032953 NM_001122679 "CCDS93818|CCDS83040|CCDS93819" Q9NT68 10625539 MGI:1345184 RGD:727907 610119 HGNC:29943 "ENST00000518659.6|NM_001395460.1" HGNC:56066 TENM2-AS1 TENM2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Antisense RNAs 1987 2021-12-13 2021-12-13 101927862 ENSG00000253978 NR_109894 HGNC:29944 TENM3 teneurin transmembrane protein 3 protein-coding gene gene with protein product Approved 4q34.3-q35.1 04q34.3-q35.1 "Ten-M3|KIAA1455|TEN3" ODZ3 odz, odd Oz/ten-m homolog 3 (Drosophila) "MicroRNA protein coding host genes|Teneurin transmembrane protein family" "1691|2150" 2004-06-24 2012-10-02 2012-10-02 2023-01-20 55714 ENSG00000218336 OTTHUMG00000160682 uc003ivd.2 AF195420 NM_001080477 CCDS47165 Q9P273 "10331952|10625539|27103084" MGI:1345183 RGD:1306641 610083 308222 HGNC:29944 "ENST00000511685.6|NM_001080477.4" HGNC:29944 HGNC:28076 TENM3-AS1 TENM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 Antisense RNAs 1987 2018-09-28 2023-03-15 90768 ENSG00000177822 OTTHUMG00000133641 NR_125905 12477932 HGNC:28076 HGNC:29945 TENM4 teneurin transmembrane protein 4 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "KIAA1302|Ten-M4|TEN4|DOC4" downstream of CHOP 4 ODZ4 odz, odd Oz/ten-m homolog 4 (Drosophila) "MicroRNA protein coding host genes|Teneurin transmembrane protein family" "1691|2150" 2004-06-24 2012-10-02 2012-10-02 2023-01-20 26011 ENSG00000149256 OTTHUMG00000166770 uc001ozl.5 AB037723 NM_001098816 CCDS44688 Q6N022 "12000766|10625539" MGI:2447063 RGD:1304658 610084 448840 HGNC:29945 "ENST00000278550.12|NM_001098816.3" HGNC:29945 -HGNC:26776 TENT2 terminal nucleotidyltransferase 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "FLJ38499|GLD2|TUT2" TUTase2 PAPD4 "PAP associated domain containing 4|poly(A) RNA polymerase D4, non-canonical" "Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "1318|1619" 2004-04-07 2018-04-20 2018-04-20 2023-01-20 167153 ENSG00000164329 OTTHUMG00000108163 uc010jaf.1 AL833136 NM_173797 "CCDS75265|CCDS75266|CCDS4048" Q6PIY7 "21813625|26926106" MGI:2140950 RGD:1306438 614121 2.7.7.19 HGNC:26776 "ENST00000453514.6|NM_001114394.3" +HGNC:26776 TENT2 terminal nucleotidyltransferase 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "FLJ38499|GLD2|TUT2" TUTase2 PAPD4 "PAP associated domain containing 4|poly(A) RNA polymerase D4, non-canonical" "Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "1318|1619" 2004-04-07 2018-04-20 2018-04-20 2023-01-20 167153 ENSG00000164329 OTTHUMG00000108163 uc010jaf.1 AL833136 NM_173797 "CCDS4048|CCDS75266|CCDS75265" Q6PIY7 "21813625|26926106" MGI:2140950 RGD:1306438 614121 2.7.7.19 HGNC:26776 "ENST00000453514.6|NM_001114394.3" HGNC:16705 TENT4A terminal nucleotidyltransferase 4A protein-coding gene gene with protein product Approved 5p15.31 05p15.31 "POLK|TRF4|LAK-1|TRF4-1" "topoisomerase-related function protein 4-1|polymerase (DNA-directed) sigma|DNA polymerase kappa|TUTase5" "POLS|PAPD7" "polymerase (DNA directed) sigma|PAP associated domain containing 7|poly(A) RNA polymerase D7, non-canonical" "Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "1318|1619" 2001-09-27 2018-04-20 2018-04-20 2023-01-20 11044 ENSG00000112941 OTTHUMG00000090457 uc003jdx.2 AF089896 NM_006999 CCDS3871 Q5XG87 "10066793|10926539|23376078" MGI:2682295 RGD:1307356 605198 2.7.7.19 HGNC:16705 "ENST00000230859.8|NM_006999.6" -HGNC:30758 TENT4B terminal nucleotidyltransferase 4B protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "TRF4-2|TUT3" TUTase3 PAPD5 "PAP associated domain containing 5|poly(A) RNA polymerase D5, non-canonical" "Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "1318|1619" 2004-04-07 2018-04-20 2018-04-20 2023-01-20 64282 ENSG00000121274 OTTHUMG00000173452 uc010vgo.3 AF089897 NM_022447 "CCDS54006|CCDS92158" Q8NDF8 "10066793|21788334" MGI:1917820 RGD:1309587 605540 2.7.7.19 HGNC:30758 "ENST00000561678.7|NM_001365324.3" +HGNC:30758 TENT4B terminal nucleotidyltransferase 4B protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "TRF4-2|TUT3" TUTase3 PAPD5 "PAP associated domain containing 5|poly(A) RNA polymerase D5, non-canonical" "Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "1318|1619" 2004-04-07 2018-04-20 2018-04-20 2023-01-20 64282 ENSG00000121274 OTTHUMG00000173452 uc010vgo.3 AF089897 NM_022447 "CCDS92158|CCDS54006" Q8NDF8 "10066793|21788334" MGI:1917820 RGD:1309587 605540 2.7.7.19 HGNC:30758 "ENST00000561678.7|NM_001365324.3" HGNC:18345 TENT5A terminal nucleotidyltransferase 5A protein-coding gene gene with protein product Approved 6q14.1 06q14.1 FLJ20037 "C6orf37|FAM46A" "chromosome 6 open reading frame 37|family with sequence similarity 46 member A" Terminal nucleotidyltransferases 1619 2002-07-08 2018-04-20 2018-04-20 2023-01-20 55603 ENSG00000112773 OTTHUMG00000015097 uc003pjg.4 AF350451 NM_017633 CCDS34489 Q96IP4 "12054608|17803723|27060136" MGI:2670964 RGD:1311381 611357 HGNC:18345 "ENST00000320172.11|NM_017633.3" HGNC:18345 HGNC:28273 TENT5B terminal nucleotidyltransferase 5B protein-coding gene gene with protein product Approved 1p36.11 01p36.11 MGC16491 FAM46B "family with sequence similarity 46, member B|family with sequence similarity 46 member B" Terminal nucleotidyltransferases 1619 2004-08-18 2018-04-20 2018-04-20 2023-01-20 115572 ENSG00000158246 OTTHUMG00000004278 uc010ofj.3 AK122816 NM_052943 CCDS294 Q96A09 30057901 MGI:2140500 RGD:1308967 619069 HGNC:28273 "ENST00000289166.6|NM_052943.4" HGNC:24712 TENT5C terminal nucleotidyltransferase 5C protein-coding gene gene with protein product Approved 1p12 01p12 FLJ20202 FAM46C "family with sequence similarity 46, member C|family with sequence similarity 46 member C" Terminal nucleotidyltransferases 1619 2004-08-18 2018-04-20 2018-04-20 2023-01-20 54855 ENSG00000183508 OTTHUMG00000013703 uc001ehe.4 BC036516 NM_017709 CCDS896 Q5VWP2 30057901 MGI:1921895 RGD:1359446 TENT5C 613952 HGNC:24712 "ENST00000369448.4|NM_017709.4" HGNC:55656 TENT5C-DT TENT5C divergent transcript non-coding RNA RNA, long non-coding Approved 1p12 01p12 Divergent transcripts 1990 2021-06-30 2021-06-30 100996263 ENSG00000236866 NR_121626 HGNC:28399 TENT5D terminal nucleotidyltransferase 5D protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "MGC26999|CT1.26|CT112" cancer/testis antigen 112 FAM46D "family with sequence similarity 46, member D|family with sequence similarity 46 member D" Terminal nucleotidyltransferases 1619 2004-08-18 2018-04-20 2018-04-20 2023-01-20 169966 ENSG00000174016 OTTHUMG00000021902 uc004edl.1 BX537938 NM_152630 CCDS14446 Q8NEK8 30057901 MGI:2685223 RGD:1559589 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM46D 300976 HGNC:28399 "ENST00000308293.6|NM_152630.5" -HGNC:11726 TEP1 telomerase associated protein 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "TP1|TLP1|VAULT2|p240|TROVE1" TROVE domain family, member 1 WD repeat domain containing 362 1997-09-05 2016-01-19 2023-01-20 7011 ENSG00000129566 OTTHUMG00000029515 uc001vxe.4 NM_007110 "CCDS9548|CCDS81789" Q99973 9403057 MGI:109573 RGD:3869 601686 HGNC:11726 "ENST00000262715.10|NM_007110.5" -HGNC:26458 TEPSIN TEPSIN adaptor related protein complex 4 accessory protein protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ31528 AP-4 accessory protein "C17orf56|ENTHD2" "chromosome 17 open reading frame 56|ENTH domain containing 2" 2005-12-15 2016-06-07 2019-01-22 2023-01-20 146705 ENSG00000167302 OTTHUMG00000177866 uc002jzu.2 AK056090 NM_144679 "CCDS86648|CCDS11779" Q96N21 22472443 MGI:1926027 RGD:1307410 HGNC:26458 "ENST00000637944.2|NM_001363764.2" +HGNC:11726 TEP1 telomerase associated protein 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "TP1|TLP1|VAULT2|p240|TROVE1" TROVE domain family, member 1 WD repeat domain containing 362 1997-09-05 2016-01-19 2023-01-20 7011 ENSG00000129566 OTTHUMG00000029515 uc001vxe.4 NM_007110 "CCDS81789|CCDS9548" Q99973 9403057 MGI:109573 RGD:3869 601686 HGNC:11726 "ENST00000262715.10|NM_007110.5" +HGNC:26458 TEPSIN TEPSIN adaptor related protein complex 4 accessory protein protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ31528 AP-4 accessory protein "C17orf56|ENTHD2" "chromosome 17 open reading frame 56|ENTH domain containing 2" 2005-12-15 2016-06-07 2019-01-22 2023-01-20 146705 ENSG00000167302 OTTHUMG00000177866 uc002jzu.2 AK056090 NM_144679 "CCDS11779|CCDS86648" Q96N21 22472443 MGI:1926027 RGD:1307410 HGNC:26458 "ENST00000637944.2|NM_001363764.2" HGNC:26675 TERB1 telomere repeat binding bouquet formation protein 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ35894 CCDC79 coiled-coil domain containing 79 "Myb/SANT domain containing|Armadillo like helical domain containing" "532|1492" 2006-08-22 2016-05-17 2016-05-17 2023-03-15 283847 ENSG00000249961 OTTHUMG00000133562 uc010viv.2 AK093213 NM_001136505 Q8NA31 24413433 MGI:2443187 RGD:1310400 617332 HGNC:26675 "ENST00000433154.6|NM_001136505.2" HGNC:28520 TERB2 telomere repeat binding bouquet formation protein 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 MGC33951 C15orf43 chromosome 15 open reading frame 43 2006-01-17 2016-05-17 2016-05-17 2023-01-20 145645 ENSG00000167014 OTTHUMG00000131264 uc001zuk.5 BC029537 NM_152448 CCDS10115 Q8NHR7 26548954 MGI:1921651 RGD:1593334 617131 HGNC:28520 "ENST00000340827.4|NM_152448.3" HGNC:11727 TERC telomerase RNA component non-coding RNA RNA, long non-coding Approved 3q26.2 03q26.2 "TR|hTR|TRC3|SCARNA19|TER" small Cajal body-specific RNA 19 1997-07-25 2023-05-26 7012 ENSG00000270141 OTTHUMG00000184024 uc003ffr.2 "U86046|AF221907" NR_001566 "7544491|16319170" RGD:727802 LRG_347|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_347.xml 602322 SR0000311 138457 HGNC:11727 HGNC:11727 @@ -38515,13 +38518,13 @@ HGNC:52740 TESHL testicular germ cell expressed HSF2 interacting lncRNA non-codi HGNC:11731 TESK1 testis associated actin remodelling kinase 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 testis specific kinase-1 testis-specific kinase 1 "LIMK/TESK kinase family|MicroRNA protein coding host genes" "1617|1691" 1997-08-28 2018-03-08 2023-01-20 7016 ENSG00000107140 OTTHUMG00000019863 uc064swy.1 D50863 NM_006285 CCDS6580 Q15569 "8537404|11294912" MGI:1201675 RGD:62059 601782 objectId:2239 2.7.12.1 HGNC:11731 "ENST00000336395.6|NM_006285.3" HGNC:11732 TESK2 testis associated actin remodelling kinase 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 testis-specific kinase 2 LIMK/TESK kinase family 1617 1999-06-18 2018-03-08 2023-01-20 10420 ENSG00000070759 OTTHUMG00000007680 uc001cns.2 AJ132545 NM_007170 CCDS41323 Q96S53 "10512679|11418599" MGI:2385204 RGD:619984 604746 objectId:2240 2.7.12.1 HGNC:11732 "ENST00000372086.4|NM_007170.3" HGNC:7446 TESMIN testis expressed metallothionein like protein protein-coding gene gene with protein product Approved 11q13.3 11q13.3 CXCDC2 CXC domain containing 2 MTL5 metallothionein-like 5, testis-specific (tesmin) 1999-02-08 2016-04-29 2016-04-29 2023-01-20 9633 ENSG00000132749 OTTHUMG00000167891 uc001ooc.4 U86074 NM_004923 "CCDS44661|CCDS8184" Q9Y4I5 1091092 MGI:1340029 RGD:1309788 604374 HGNC:7446 "ENST00000255087.10|NM_004923.3" -HGNC:29109 TESPA1 thymocyte expressed, positive selection associated 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 ITPRID3 KIAA0748 KIAA0748 2006-01-24 2012-03-21 2012-03-21 2023-01-20 9840 ENSG00000135426 OTTHUMG00000165407 uc010spd.3 AB018291 NM_001098815 "CCDS58240|CCDS44913" A2RU30 9872452 MGI:1914846 615664 HGNC:29109 "ENST00000449076.6|NM_001136030.3" +HGNC:29109 TESPA1 thymocyte expressed, positive selection associated 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 ITPRID3 KIAA0748 KIAA0748 2006-01-24 2012-03-21 2012-03-21 2023-01-20 9840 ENSG00000135426 OTTHUMG00000165407 uc010spd.3 AB018291 NM_001098815 "CCDS44913|CCDS58240" A2RU30 9872452 MGI:1914846 615664 HGNC:29109 "ENST00000449076.6|NM_001136030.3" HGNC:29484 TET1 tet methylcytosine dioxygenase 1 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "LCX|KIAA1676|bA119F7.1" "leukemia-associated protein with a CXXC domain|ten-eleven translocation 1" CXXC6 "CXXC zinc finger 6|tet oncogene 1" "Zinc fingers CXXC-type|Tet methylcytosine dioxygenase family" "136|2049" 2004-02-18 2008-03-12 2011-09-30 2023-01-20 80312 ENSG00000138336 OTTHUMG00000018359 uc001jok.5 AF430147 NM_030625 CCDS7281 Q8NFU7 "12124344|12646957" MGI:1098693 RGD:1310993 TET1 607790 1.14.11.n2 HGNC:29484 "ENST00000373644.5|NM_030625.3" HGNC:33586 TET1P1 tet methylcytosine dioxygenase 1 pseudogene 1 pseudogene pseudogene Approved 13q31.2 13q31.2 CXXC6P1 "CXXC zinc finger 6 pseudogene 1|tet oncogene 1 pseudogene 1" 2007-08-08 2009-12-17 2011-09-30 2011-12-01 441662 ENSG00000232204 OTTHUMG00000017168 NG_006594 PGOHUM00000248454 HGNC:33586 -HGNC:25941 TET2 tet methylcytosine dioxygenase 2 protein-coding gene gene with protein product Approved 4q24 04q24 FLJ20032 ten-eleven translocation 2 KIAA1546 "KIAA1546|tet oncogene family member 2" Tet methylcytosine dioxygenase family 2049 2006-06-20 2008-03-12 2011-09-30 2023-01-20 54790 ENSG00000168769 OTTHUMG00000131213 uc021xqk.1 AB046766 NM_017628 "CCDS3666|CCDS47120" Q6N021 "10997877|12646957" MGI:2443298 RGD:1311625 LRG_626|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_626.xml TET2 612839 268325 1.14.11.n2 HGNC:25941 "ENST00000380013.9|NM_001127208.3" HGNC:25941 +HGNC:25941 TET2 tet methylcytosine dioxygenase 2 protein-coding gene gene with protein product Approved 4q24 04q24 FLJ20032 ten-eleven translocation 2 KIAA1546 "KIAA1546|tet oncogene family member 2" Tet methylcytosine dioxygenase family 2049 2006-06-20 2008-03-12 2011-09-30 2023-01-20 54790 ENSG00000168769 OTTHUMG00000131213 uc021xqk.1 AB046766 NM_017628 "CCDS47120|CCDS3666" Q6N021 "10997877|12646957" MGI:2443298 RGD:1311625 LRG_626|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_626.xml TET2 612839 268325 1.14.11.n2 HGNC:25941 "ENST00000380013.9|NM_001127208.3" HGNC:25941 HGNC:41125 TET2-AS1 TET2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 TET2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-30 2012-08-15 2014-11-19 104384744 ENSG00000251586 OTTHUMG00000160996 uc062ysg.1 NR_126420 TET2-AS1 HGNC:41125 -HGNC:28313 TET3 tet methylcytosine dioxygenase 3 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "MGC22014|hCG_40738" ten-eleven translocation 3 tet oncogene family member 3 "Zinc fingers CXXC-type|Tet methylcytosine dioxygenase family" "136|2049" 2008-03-12 2011-09-30 2023-01-20 200424 ENSG00000187605 OTTHUMG00000152823 uc002skb.6 NM_001287491 "CCDS92780|CCDS46339" O43151 "9455477|23697932" MGI:2446229 RGD:1590584 613555 1.14.11.n2 HGNC:28313 "ENST00000409262.8|NM_001287491.2" HGNC:28313 -HGNC:30884 TEX2 testis expressed 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "HT008|TMEM96|KIAA1738" transmembrane protein 96 testis expressed sequence 2 2005-12-15 2007-03-13 2023-01-20 55852 ENSG00000136478 OTTHUMG00000178881 uc002jed.5 AB051525 NM_018469 "CCDS74131|CCDS11658" Q8IWB9 "16449791|27489577|31186485" MGI:102465 RGD:1305112 619929 HGNC:30884 "ENST00000584379.6|NM_001288732.2" +HGNC:28313 TET3 tet methylcytosine dioxygenase 3 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "MGC22014|hCG_40738" ten-eleven translocation 3 tet oncogene family member 3 "Zinc fingers CXXC-type|Tet methylcytosine dioxygenase family" "136|2049" 2008-03-12 2011-09-30 2023-01-20 200424 ENSG00000187605 OTTHUMG00000152823 uc002skb.6 NM_001287491 "CCDS46339|CCDS92780" O43151 "9455477|23697932" MGI:2446229 RGD:1590584 613555 1.14.11.n2 HGNC:28313 "ENST00000409262.8|NM_001287491.2" HGNC:28313 +HGNC:30884 TEX2 testis expressed 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "HT008|TMEM96|KIAA1738" transmembrane protein 96 testis expressed sequence 2 2005-12-15 2007-03-13 2023-01-20 55852 ENSG00000136478 OTTHUMG00000178881 uc002jed.5 AB051525 NM_018469 "CCDS11658|CCDS74131" Q8IWB9 "16449791|27489577|31186485" MGI:102465 RGD:1305112 619929 HGNC:30884 "ENST00000584379.6|NM_001288732.2" HGNC:29585 TEX9 testis expressed 9 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 testis expressed sequence 9 2005-07-21 2007-03-13 2023-01-20 374618 ENSG00000151575 OTTHUMG00000132035 uc002adp.5 BC028119 NM_198524 "CCDS66776|CCDS10157" Q8N6V9 MGI:1201610 RGD:1304772 HGNC:29585 "ENST00000696102.1|NM_001395496.1" HGNC:25988 TEX10 testis expressed 10 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "FLJ20287|bA208F1.2|Ipi1" "testis expressed gene 10|testis expressed sequence 10" "Large ribosomal subunit biogenesis complex|Armadillo like helical domain containing" "1301|1492" 2004-02-13 2007-03-13 2023-01-20 54881 ENSG00000136891 OTTHUMG00000020366 uc004bas.4 AB060968 NM_017746 "CCDS6748|CCDS55330" Q9NXF1 21326211 MGI:1344413 RGD:1312045 616717 HGNC:25988 "ENST00000374902.9|NM_017746.4" HGNC:11733 TEX11 testis expressed 11 protein-coding gene gene with protein product Approved Xp11 Xp11 "TSGA3|TGC1|ZIP4|ZIP4H|MZIP4|Spo22" ZIP4 homolog (S. cerevisiae) testis expressed sequence 11 2000-06-16 2007-03-13 2023-01-20 56159 ENSG00000120498 OTTHUMG00000021782 uc004dyl.4 AF285594 NM_001003811 Q8IYF3 11279525 MGI:1933237 RGD:1560239 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TEX11 300311 431878 HGNC:11733 "ENST00000374333.7|NM_031276.3" HGNC:11733 @@ -38530,8 +38533,8 @@ HGNC:11735 TEX13A testis expressed 13A protein-coding gene gene with protein pro HGNC:11736 TEX13B testis expressed 13B protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "TSGA5|TGC3B" testis expressed sequence 13B 2000-06-16 2007-03-13 2023-01-20 56156 ENSG00000170925 OTTHUMG00000022174 uc004enn.1 AF285598 NM_031273 CCDS14534 Q9BXU2 11279525 MGI:1890544 RGD:1587018 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TEX13B 300313 HGNC:11736 "ENST00000302917.1|NM_031273.2" HGNC:52277 TEX13C TEX13 family member C protein-coding gene gene with protein product Approved Xq25 Xq25 2015-12-14 2023-01-20 100129520 ENSG00000282815 OTTHUMG00000191426 NM_001195272 CCDS83488 A0A0J9YWL9 MGI:2685208 RGD:1563975 HGNC:52277 "ENST00000695840.1|NM_001195272.2" HGNC:52278 TEX13D TEX13 family member D protein-coding gene gene with protein product Approved Xq25 Xq25 2015-12-14 2023-01-20 100132015 ENSG00000282419 OTTHUMG00000190648 NM_001355534 CCDS87773 A0A0J9YY54 27250503 "MGI:3037654|MGI:3780650" HGNC:52278 "ENST00000632372.3|NM_001355534.2" -HGNC:11737 TEX14 testis expressed 14, intercellular bridge forming factor protein-coding gene gene with protein product Approved 17q22 17q22 CT113 cancer/testis antigen 113 "testis expressed sequence 14|testis expressed 14" Ankyrin repeat domain containing 403 2000-06-16 2016-05-06 2023-01-20 56155 ENSG00000121101 OTTHUMG00000179245 uc010dcz.3 AF285601 NM_001201457 "CCDS32692|CCDS32693|CCDS56042" Q8IWB6 "11279525|12711554|26392564" MGI:1933227 RGD:1305437 605792 objectId:2241 HGNC:11737 "ENST00000349033.10|NM_031272.5" HGNC:11737 -HGNC:51268 TEX14BP testis expressed 14B, pseudogene pseudogene pseudogene Approved 19q13.12 19q13.12 LINC01529 long intergenic non-protein coding RNA 1529 2014-08-15 2022-08-01 2022-08-01 2022-08-01 644050 ENSG00000225872 OTTHUMG00000048120 AK055260 NR_104176 MGI:2685928 LINC01529 HGNC:51268 +HGNC:11737 TEX14 testis expressed 14, intercellular bridge forming factor protein-coding gene gene with protein product Approved 17q22 17q22 "CT113|SgK307" "cancer/testis antigen 113|Inactive serine/threonine-protein kinase TEX14" "testis expressed sequence 14|testis expressed 14" Ankyrin repeat domain containing 403 2000-06-16 2016-05-06 2023-06-13 56155 ENSG00000121101 OTTHUMG00000179245 uc010dcz.3 AF285601 NM_001201457 "CCDS56042|CCDS32693|CCDS32692" Q8IWB6 "11279525|12711554|26392564" MGI:1933227 RGD:1305437 605792 objectId:2241 HGNC:11737 "ENST00000349033.10|NM_031272.5" HGNC:11737 +HGNC:51268 TEX14BP testis expressed 14B, pseudogene pseudogene pseudogene Approved 19q13.12 19q13.12 LNCGM1082 LINC01529 long intergenic non-protein coding RNA 1529 2014-08-15 2022-08-01 2022-08-01 2023-06-07 644050 ENSG00000225872 OTTHUMG00000048120 AK055260 NR_104176 36941318 MGI:2685928 LINC01529 HGNC:51268 HGNC:11738 TEX15 testis expressed 15, meiosis and synapsis associated protein-coding gene gene with protein product Approved 8p12 08p12 CT42 cancer/testis antigen 42 "testis expressed sequence 15|testis expressed 15" 2000-06-16 2016-12-13 2023-03-15 56154 ENSG00000133863 OTTHUMG00000163881 uc003xil.4 AF285605 NM_001350162 CCDS87593 Q9BXT5 "11279525|26199321|18283110" MGI:1934816 RGD:1311266 605795 HGNC:11738 "ENST00000643185.2|NM_001350162.2" HGNC:11738 HGNC:37957 TEX16P testis expressed 16, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 2010-03-12 2014-11-19 100499435 NG_023465 20210993 MGI:1890545 RGD:1559987 HGNC:37957 HGNC:33802 TEX19 testis expressed 19 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ35767 2009-04-14 2023-01-20 400629 ENSG00000182459 OTTHUMG00000132857 uc002keq.3 BC016939 NM_207459 CCDS11809 Q8NA77 "23674551|18096721" "MGI:1918206|MGI:1920929" RGD:1588608 615647 HGNC:33802 "ENST00000333437.5|NM_207459.4" @@ -38544,11 +38547,11 @@ HGNC:33356 TEX28P1 TEX28 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 p HGNC:33357 TEX28P2 TEX28 pseudogene 2 pseudogene pseudogene Approved Xq28 Xq28 "pTEX|CXorf2B" testis expressed 28 pseudogene 2 2007-03-13 2021-10-15 2021-10-15 653363 ENSG00000277008 OTTHUMG00000022713 XM_927078 O15482 "15378397|16382448" MGI:2686384 PGOHUM00000304911 HGNC:33357 HGNC:55924 TEX28P3 TEX28 pseudogene 3 pseudogene pseudogene Approved Xq28 Xq28 2021-10-15 2021-10-15 102030688 ENSG00000277009 NG_033788 PGOHUM00000304913 HGNC:20370 TEX29 testis expressed 29 protein-coding gene gene with protein product Approved 13q34 13q34 "bA474D23.1|MGC35169" C13orf16 chromosome 13 open reading frame 16 2004-04-16 2012-02-07 2012-02-07 2023-01-20 121793 ENSG00000153495 OTTHUMG00000017358 uc001vsa.3 BC029889 NM_152324 CCDS9522 Q8N6K0 MGI:1922778 RGD:1565377 HGNC:20370 "ENST00000283547.2|NM_152324.3" -HGNC:25188 TEX30 testis expressed 30 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 C13orf27 chromosome 13 open reading frame 27 2006-08-04 2012-02-09 2012-02-09 2023-01-20 93081 ENSG00000151287 OTTHUMG00000017306 uc001vpo.5 AF070559 NM_138779 "CCDS9503|CCDS66577|CCDS66578" Q5JUR7 MGI:1922873 RGD:1309095 S09.027 HGNC:25188 "ENST00000376032.9|NM_138779.5" -HGNC:25366 TEX35 testis expressed 35 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "DKFZP564J047|TSC24" Testis-Specific Conserved gene 24kDa C1orf49 chromosome 1 open reading frame 49 2005-01-31 2012-06-29 2012-06-29 2023-01-20 84066 ENSG00000240021 OTTHUMG00000035023 uc001glt.3 AL136694 NM_032126 "CCDS1323|CCDS53434|CCDS53433" Q5T0J7 "11230166|17077512" MGI:1920685 RGD:1595460 HGNC:25366 "ENST00000319416.7|NM_032126.5" +HGNC:25188 TEX30 testis expressed 30 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 C13orf27 chromosome 13 open reading frame 27 2006-08-04 2012-02-09 2012-02-09 2023-01-20 93081 ENSG00000151287 OTTHUMG00000017306 uc001vpo.5 AF070559 NM_138779 "CCDS9503|CCDS66578|CCDS66577" Q5JUR7 MGI:1922873 RGD:1309095 S09.027 HGNC:25188 "ENST00000376032.9|NM_138779.5" +HGNC:25366 TEX35 testis expressed 35 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "DKFZP564J047|TSC24" Testis-Specific Conserved gene 24kDa C1orf49 chromosome 1 open reading frame 49 2005-01-31 2012-06-29 2012-06-29 2023-01-20 84066 ENSG00000240021 OTTHUMG00000035023 uc001glt.3 AL136694 NM_032126 "CCDS53434|CCDS53433|CCDS1323" Q5T0J7 "11230166|17077512" MGI:1920685 RGD:1595460 HGNC:25366 "ENST00000319416.7|NM_032126.5" HGNC:31653 TEX36 testis expressed 36 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 bA383C5.1 C10orf122 chromosome 10 open reading frame 122 2004-05-27 2012-08-13 2012-08-13 2023-01-20 387718 ENSG00000175018 OTTHUMG00000019229 uc001lik.4 NM_001128202 "CCDS81521|CCDS44493" Q5VZQ5 MGI:1921058 RGD:1566410 HGNC:31653 "ENST00000368821.4|NM_001128202.3" HGNC:49500 TEX36-AS1 TEX36 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.13 10q26.13 Antisense RNAs 1987 2013-12-20 2013-12-20 100169752 ENSG00000237675 OTTHUMG00000019227 NR_023362 TEX36-AS1 HGNC:49500 -HGNC:29589 TEX38 testis expressed 38 protein-coding gene gene with protein product Approved 1p33 01p33 "LOC374973|THEG4" testis highly expressed protein 4 "C1orf223|ATPAF1-AS1" "chromosome 1 open reading frame 223|ATPAF1 antisense RNA 1 (non-protein coding)|ATPAF1 antisense RNA 1" 2008-07-18 2012-10-12 2012-10-12 2023-01-20 374973 ENSG00000186118 OTTHUMG00000007991 uc001cqj.4 NM_001145474 "CCDS72780|CCDS72781|CCDS57999" Q6PEX7 12477932 MGI:1922423 RGD:1585134 HGNC:29589 "ENST00000334122.5|NM_001145474.4" +HGNC:29589 TEX38 testis expressed 38 protein-coding gene gene with protein product Approved 1p33 01p33 "LOC374973|THEG4" testis highly expressed protein 4 "C1orf223|ATPAF1-AS1" "chromosome 1 open reading frame 223|ATPAF1 antisense RNA 1 (non-protein coding)|ATPAF1 antisense RNA 1" 2008-07-18 2012-10-12 2012-10-12 2023-01-20 374973 ENSG00000186118 OTTHUMG00000007991 uc001cqj.4 NM_001145474 "CCDS72780|CCDS57999|CCDS72781" Q6PEX7 12477932 MGI:1922423 RGD:1585134 HGNC:29589 "ENST00000334122.5|NM_001145474.4" HGNC:48667 TEX41 testis expressed 41 non-coding RNA RNA, long non-coding Approved 2q22.3 02q22.3 "DKFZp686O1327|LINC00953" long intergenic non-protein coding RNA 953 testis expressed 41 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-06-04 2018-05-16 2018-05-16 401014 ENSG00000226674 OTTHUMG00000153701 BC043549 NR_033870 TEX41 HGNC:48667 HGNC:28563 TEX44 testis expressed 44 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 MGC35154 C2orf57 chromosome 2 open reading frame 57 2007-06-14 2016-11-03 2016-11-03 2023-01-20 165100 ENSG00000177673 OTTHUMG00000133226 uc002vrz.4 BC034405 NM_152614 CCDS2487 Q53QW1 26168773 MGI:1919113 RGD:1564629 HGNC:28563 "ENST00000313965.4|NM_152614.3" HGNC:44651 TEX46 testis expressed 46 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 C1orf234 chromosome 1 open reading frame 234 2013-06-14 2017-03-17 2017-03-17 2023-01-20 729059 ENSG00000227868 OTTHUMG00000003226 NM_001242521 CCDS57978 H3BTG2 MGI:1914913 RGD:7515741 HGNC:44651 "ENST00000566855.4|NM_001242521.2" @@ -38561,12 +38564,12 @@ HGNC:53655 TEX53 testis expressed 53 protein-coding gene gene with protein produ HGNC:53729 TEX54 testis expressed 54 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 2017-09-15 2017-09-15 111216277 ENSG00000283268 OTTHUMG00000191674 NM_001395459 A0A1B0GVG6 MGI:1921557 RGD:41086944 HGNC:26553 TEX55 testis expressed 55 protein-coding gene gene with protein product Approved 3q13.32 03q13.32 "FLJ32859|TSCPA" Testis-specific conserved, cAMP-dependent type II PK anchoring protein C3orf30 chromosome 3 open reading frame 30 2005-12-22 2018-12-12 2018-12-12 2023-01-20 152405 ENSG00000163424 OTTHUMG00000159349 uc003ecb.1 AK057421 NM_152539 CCDS2984 Q96M34 "19821082|33458765" MGI:1921913 RGD:1306995 HGNC:26553 "ENST00000295622.6|NM_152539.3" HGNC:21620 TEX56P testis expressed 56, pseudogene pseudogene pseudogene Approved 6p25.2 06p25.2 dJ1013A10.5 C6orf201 chromosome 6 open reading frame 201 2003-11-26 2022-08-01 2022-08-01 2023-03-15 404220 ENSG00000185689 OTTHUMG00000014160 uc003mwa.5 NR_104463 MGI:1914011 RGD:1307537 HGNC:21620 -HGNC:30722 TEX101 testis expressed 101 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "MGC4766|SGRG|CT131|SPATA44|TES101RP" "cancer/testis antigen 131|spermatogenesis associated 44|TES101-reactive protein" testis expressed sequence 101 LY6/PLAUR domain containing 1226 2004-11-03 2007-03-13 2023-01-20 83639 ENSG00000131126 OTTHUMG00000182695 uc060zlc.1 AF241268 NM_031451 "CCDS59393|CCDS12619" Q9BY14 "16388701|16516155" MGI:1930791 RGD:621373 612665 HGNC:30722 "ENST00000598265.2|NM_001130011.3" +HGNC:30722 TEX101 testis expressed 101 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "MGC4766|SGRG|CT131|SPATA44|TES101RP" "cancer/testis antigen 131|spermatogenesis associated 44|TES101-reactive protein" testis expressed sequence 101 LY6/PLAUR domain containing 1226 2004-11-03 2007-03-13 2023-01-20 83639 ENSG00000131126 OTTHUMG00000182695 uc060zlc.1 AF241268 NM_031451 "CCDS12619|CCDS59393" Q9BY14 "16388701|16516155" MGI:1930791 RGD:621373 612665 HGNC:30722 "ENST00000598265.2|NM_001130011.3" HGNC:55030 TEX101P1 TEX101 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-05-28 2020-05-28 117981793 ENSG00000270308 NG_070709 HGNC:30712 TEX261 testis expressed 261 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "MGC32043|TEG-261" testis expressed sequence 261 2004-08-02 2007-03-13 2023-01-20 113419 ENSG00000144043 OTTHUMG00000170601 uc002shn.4 AL832385 NM_144582 CCDS1914 Q6UWH6 9464256 MGI:1096575 RGD:1305851 618562 HGNC:30712 "ENST00000272438.9|NM_144582.3" -HGNC:30247 TEX264 testis expressed 264, ER-phagy receptor protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "ZSIG11|FLJ13935" testis expressed gene 264 2004-07-12 2019-05-10 2023-01-20 51368 ENSG00000164081 OTTHUMG00000156901 uc031saa.2 AF072733 NM_015926 "CCDS74945|CCDS2833" Q9Y6I9 "12975309|31006537|31006538" MGI:1096570 RGD:1359353 HGNC:30247 "ENST00000341333.10|NM_015926.6" +HGNC:30247 TEX264 testis expressed 264, ER-phagy receptor protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "ZSIG11|FLJ13935" testis expressed gene 264 2004-07-12 2019-05-10 2023-01-20 51368 ENSG00000164081 OTTHUMG00000156901 uc031saa.2 AF072733 NM_015926 "CCDS2833|CCDS74945" Q9Y6I9 "12975309|31006537|31006538" MGI:1096570 RGD:1359353 HGNC:30247 "ENST00000341333.10|NM_015926.6" HGNC:11740 TF transferrin protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "PRO1557|PRO2086" serotransferrin Transferrins 908 2001-06-22 2023-01-20 7018 ENSG00000091513 OTTHUMG00000150356 uc003epv.2 NM_001063 CCDS3080 P02787 6585826 MGI:98821 RGD:3845 190000 120027 HGNC:11740 "ENST00000402696.9|NM_001063.4" HGNC:11740 -HGNC:11741 TFAM transcription factor A, mitochondrial protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "TCF6|TCF6L2" 1991-09-13 2023-01-20 7019 ENSG00000108064 OTTHUMG00000018270 uc001jkf.5 BC018628 NM_003201 "CCDS59217|CCDS7253" Q00059 7789991 MGI:107810 RGD:620682 600438 HGNC:11741 "ENST00000487519.6|NM_003201.3" HGNC:11741 +HGNC:11741 TFAM transcription factor A, mitochondrial protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "TCF6|TCF6L2" 1991-09-13 2023-01-20 7019 ENSG00000108064 OTTHUMG00000018270 uc001jkf.5 BC018628 NM_003201 "CCDS7253|CCDS59217" Q00059 7789991 MGI:107810 RGD:620682 600438 HGNC:11741 "ENST00000487519.6|NM_003201.3" HGNC:11741 HGNC:11636 TFAMP1 transcription factor A, mitochondrial pseudogene 1 pseudogene pseudogene Approved 7p22.3 07p22.3 MTTF1 TCF6L1 transcription factor 6-like 1 (mitochondrial transcription factor 1-like) 1991-09-13 2008-01-31 2008-01-31 2010-09-24 260341 ENSG00000230444 OTTHUMG00000151494 NR_001288 PGOHUM00000233097 HGNC:11636 HGNC:11638 TFAMP2 transcription factor A, mitochondrial pseudogene 2 pseudogene pseudogene Approved 11q22.3 11q22.3 MTTF1 TCF6L3 transcription factor 6-like 3 (mitochondrial transcription factor 1-like) 1991-09-13 2008-01-31 2008-01-31 2017-10-26 260340 ENSG00000254798 OTTHUMG00000166570 NR_001287 PGOHUM00000290697 HGNC:11638 HGNC:11742 TFAP2A transcription factor AP-2 alpha protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "AP-2|AP-2alpha" "TFAP2|AP2TF" "transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)|transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)" Transcription factor AP-2 family 2048 1991-09-12 2016-04-06 2023-01-20 7020 ENSG00000137203 OTTHUMG00000014235 uc063ltd.1 X52611 NM_003220 "CCDS34337|CCDS4510|CCDS43422" P05549 "1916817|3063603" MGI:104671 RGD:1310267 107580 159950 HGNC:11742 "ENST00000379613.10|NM_001372066.1" HGNC:11742 @@ -38580,17 +38583,17 @@ HGNC:41274 TFAP2E-AS1 TFAP2E antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:11745 TFAP4 transcription factor AP-4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "AP-4|bHLHc41" transcription factor AP-4 (activating enhancer-binding protein 4) Basic helix-loop-helix proteins 420 1995-03-01 2016-07-19 2023-01-20 7023 ENSG00000090447 OTTHUMG00000129435 uc010uxg.3 X57435 NM_003223 CCDS10510 Q01664 2123466 MGI:103239 RGD:1308357 600743 HGNC:11745 "ENST00000204517.11|NM_003223.3" HGNC:17037 TFB1M transcription factor B1, mitochondrial protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "mtTFB|CGI-75" dimethyladenosine transferase 1, mitochondrial 7BS N6-adenosine DNA/RNA methyltransferases 2061 2002-04-26 2023-01-20 51106 ENSG00000029639 OTTHUMG00000015881 uc003qqj.5 AF151833 NM_001350501 CCDS5248 Q8WVM0 "10810093|11809803" MGI:2146851 RGD:727795 607033 120032 HGNC:17037 "ENST00000367166.5|NM_016020.4" HGNC:18559 TFB2M transcription factor B2, mitochondrial protein-coding gene gene with protein product Approved 1q44 01q44 "FLJ23182|FLJ22661|Hkp1" 7BS N6-adenosine DNA/RNA methyltransferases 2061 2002-04-26 2023-01-20 64216 ENSG00000162851 OTTHUMG00000040091 uc001ibn.4 AK026835 NM_022366 CCDS1627 Q9H5Q4 MGI:107937 RGD:1307091 607055 HGNC:18559 "ENST00000366514.5|NM_022366.3" -HGNC:11748 TFCP2 transcription factor CP2 protein-coding gene gene with protein product Approved 12q13.12-q13.13 12q13.12-q13.13 "CP2|LSF|LBP-1C|TFCP2C" 1994-12-15 2023-01-20 7024 ENSG00000135457 OTTHUMG00000169621 uc001rxw.4 U03494 NM_005653 "CCDS55827|CCDS8808" Q12800 8157699 MGI:98509 RGD:1306738 189889 HGNC:11748 "ENST00000257915.10|NM_005653.5" +HGNC:11748 TFCP2 transcription factor CP2 protein-coding gene gene with protein product Approved 12q13.12-q13.13 12q13.12-q13.13 "CP2|LSF|LBP-1C|TFCP2C" 1994-12-15 2023-01-20 7024 ENSG00000135457 OTTHUMG00000169621 uc001rxw.4 U03494 NM_005653 "CCDS8808|CCDS55827" Q12800 8157699 MGI:98509 RGD:1306738 189889 HGNC:11748 "ENST00000257915.10|NM_005653.5" HGNC:17925 TFCP2L1 transcription factor CP2 like 1 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "LBP-9|CRTR1" transcription factor CP2-like 1 2004-01-05 2016-08-25 2023-01-20 29842 ENSG00000115112 OTTHUMG00000131443 uc002tmx.4 AF198488 NM_014553 CCDS2134 Q9NZI6 "10644752|11073954" MGI:2444691 RGD:1305456 609785 HGNC:17925 "ENST00000263707.6|NM_014553.3" HGNC:11749 TFDP1 transcription factor Dp-1 protein-coding gene gene with protein product Approved 13q34 13q34 "Dp-1|DRTF1|DP1|DILC" down-regulated in liver cancer stem cells Transcription factor Dp family 987 1995-02-02 2023-01-20 7027 ENSG00000198176 OTTHUMG00000017388 uc001vtw.4 BC011685 NM_007111 CCDS9538 Q14186 "8413592|9027491" MGI:101934 RGD:1560344 189902 HGNC:11749 "ENST00000375370.10|NM_007111.5" HGNC:11750 TFDP1P1 TFDP1 pseudogene 1 pseudogene pseudogene Approved 1q32.3 01q32.3 TFDP1P "transcription factor Dp-1 pseudogene|transcription factor Dp-1 pseudogene 1" 1996-05-15 2020-04-29 2020-04-29 2020-04-29 391158 ENSG00000224540 U58192 NG_009284 9027491 HGNC:11750 HGNC:54930 TFDP1P2 TFDP1 pseudogene 2 pseudogene pseudogene Approved Xp21.1 Xp21.1 2020-04-29 2020-04-29 441488 ENSG00000223723 NG_006953 HGNC:54931 TFDP1P3 TFDP1 pseudogene 3 pseudogene pseudogene Approved 15q25.1 15q25.1 2020-04-29 2020-04-29 390617 ENSG00000259493 NG_009287 -HGNC:11751 TFDP2 transcription factor Dp-2 protein-coding gene gene with protein product Approved 3q23 03q23 Dp-2 E2F dimerization partner 2 transcription factor Dp-2 (E2F dimerization partner 2) Transcription factor Dp family 987 1995-12-15 2016-04-04 2023-01-20 7029 ENSG00000114126 OTTHUMG00000164975 uc003eum.5 U18422 NM_006286 "CCDS93401|CCDS54650|CCDS43159|CCDS54648|CCDS54647|CCDS54649" Q14188 "7784053|9027491" MGI:107167 RGD:1305814 602160 HGNC:11751 "ENST00000489671.6|NM_001178139.2" +HGNC:11751 TFDP2 transcription factor Dp-2 protein-coding gene gene with protein product Approved 3q23 03q23 Dp-2 E2F dimerization partner 2 transcription factor Dp-2 (E2F dimerization partner 2) Transcription factor Dp family 987 1995-12-15 2016-04-04 2023-01-20 7029 ENSG00000114126 OTTHUMG00000164975 uc003eum.5 U18422 NM_006286 "CCDS54649|CCDS54647|CCDS54648|CCDS93401|CCDS43159|CCDS54650" Q14188 "7784053|9027491" MGI:107167 RGD:1305814 602160 HGNC:11751 "ENST00000489671.6|NM_001178139.2" HGNC:24603 TFDP3 transcription factor Dp family member 3 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "HCA661|E2F-like|CT30" "E2F-like protein|cancer/testis antigen 30" transcription factor Dp family, member 3 Transcription factor Dp family 987 2004-07-15 2015-11-18 2023-01-20 51270 ENSG00000183434 OTTHUMG00000022433 uc004exb.1 AF219119 NM_016521 CCDS14636 Q5H9I0 12097419 MGI:101934 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TFDP3 300772 HGNC:24603 "ENST00000310125.5|NM_016521.3" HGNC:11752 TFE3 transcription factor binding to IGHM enhancer 3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "TFEA|bHLHe33" Basic helix-loop-helix proteins 420 1990-10-16 2023-01-20 7030 ENSG00000068323 OTTHUMG00000022690 uc004dmb.5 X96717 NM_006521 CCDS14315 P19532 "1672758|1685140" MGI:98511 RGD:1559642 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TFE3 TFE3 314310 120036 HGNC:11752 "ENST00000315869.8|NM_006521.6" HGNC:11752 -HGNC:11753 TFEB transcription factor EB protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TCFEB|bHLHe35" Basic helix-loop-helix proteins 420 1999-09-20 2023-01-20 7942 ENSG00000112561 OTTHUMG00000014684 uc003oqt.3 M33782 NM_001167827 "CCDS4858|CCDS64424|CCDS64425" P19484 2115126 MGI:103270 RGD:1309583 TFEB 600744 326706 HGNC:11753 "ENST00000373033.6|NM_001271944.2" -HGNC:11754 TFEC transcription factor EC protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "TCFEC|TFECL|bHLHe34" Basic helix-loop-helix proteins 420 1999-09-20 2023-01-20 22797 ENSG00000105967 OTTHUMG00000023518 uc003vhj.3 D43945 NM_012252 "CCDS59076|CCDS5762|CCDS34738" O14948 9256061 MGI:1333760 RGD:3846 604732 HGNC:11754 "ENST00000265440.12|NM_012252.4" +HGNC:11753 TFEB transcription factor EB protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TCFEB|bHLHe35" Basic helix-loop-helix proteins 420 1999-09-20 2023-01-20 7942 ENSG00000112561 OTTHUMG00000014684 uc003oqt.3 M33782 NM_001167827 "CCDS4858|CCDS64425|CCDS64424" P19484 2115126 MGI:103270 RGD:1309583 TFEB 600744 326706 HGNC:11753 "ENST00000373033.6|NM_001271944.2" +HGNC:11754 TFEC transcription factor EC protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "TCFEC|TFECL|bHLHe34" Basic helix-loop-helix proteins 420 1999-09-20 2023-01-20 22797 ENSG00000105967 OTTHUMG00000023518 uc003vhj.3 D43945 NM_012252 "CCDS5762|CCDS34738|CCDS59076" O14948 9256061 MGI:1333760 RGD:3846 604732 HGNC:11754 "ENST00000265440.12|NM_012252.4" HGNC:11755 TFF1 trefoil factor 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "D21S21|HPS2|pS2|pNR-2|HP1.A" BCEI breast cancer, estrogen-inducible sequence expressed in 2001-06-22 2007-01-29 2023-01-20 7031 ENSG00000160182 OTTHUMG00000086799 uc002zax.2 BC032811 NM_003225 CCDS13685 P04155 9043862 MGI:88135 RGD:620707 113710 HGNC:11755 "ENST00000291527.3|NM_003225.3" HGNC:11756 TFF2 trefoil factor 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 SML1 spasmolytic protein 1 1991-12-13 2008-07-28 2023-01-20 7032 ENSG00000160181 OTTHUMG00000086797 uc002zaw.4 NM_005423 CCDS13684 Q03403 "1505966|9043862" MGI:1306805 RGD:620709 182590 HGNC:11756 "ENST00000291526.5|NM_005423.5" HGNC:11757 TFF3 trefoil factor 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "HITF|ITF" trefoil factor 3 (intestinal) 1995-11-22 2015-11-10 2023-01-20 7033 ENSG00000160180 OTTHUMG00000086798 uc002zav.4 AF432265 NM_003226 CCDS33565 Q07654 "7718582|9043862" MGI:104638 RGD:3847 600633 HGNC:11757 "ENST00000518498.3|NM_003226.4" @@ -38601,27 +38604,27 @@ HGNC:55374 TFIP11-DT TFIP11 divergent transcript non-coding RNA RNA, long non-co HGNC:11760 TFPI tissue factor pathway inhibitor protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "EPI|TFI|TFPI1" extrinsic pathway inhibitor LACI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 1991-06-03 2015-11-19 2023-01-20 7035 ENSG00000003436 OTTHUMG00000132634 uc002upy.4 NM_006287 "CCDS33349|CCDS2294" P10646 1993173 MGI:1095418 RGD:61914 LRG_604|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_604.xml 152310 471212 LI02-002 ligandId:11181 HGNC:11760 "ENST00000233156.9|NM_006287.6" HGNC:11761 TFPI2 tissue factor pathway inhibitor 2 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "PP5|TFPI-2|REF1" 1999-07-14 2023-01-20 7980 ENSG00000105825 OTTHUMG00000022963 uc003umy.2 L27624 NM_006528 CCDS5632 P48307 "7896752|8945635" MGI:108543 RGD:628629 LRG_647|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_647.xml 600033 LI02-003 HGNC:11761 "ENST00000222543.11|NM_006528.4" HGNC:40581 TFPI2-DT TFPI2 divergent transcript non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 Divergent transcripts 1990 2020-03-27 2020-03-27 105375401 ENSG00000234695 OTTHUMG00000155770 NR_134235 -HGNC:13630 TFPT TCF3 fusion partner protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FB1|amida|INO80F" "amida, partner of the E2A|INO80 complex subunit F" TCF3 (E2A) fusion partner (in childhood Leukemia) INO80 complex 595 2000-09-27 2016-06-30 2023-01-20 29844 ENSG00000105619 OTTHUMG00000065906 uc010yej.1 AF052052 NM_013342 "CCDS82396|CCDS12878" P0C1Z6 "10644725|16230350" MGI:1916964 RGD:620839 609519 HGNC:13630 "ENST00000391759.6|NM_013342.4" +HGNC:13630 TFPT TCF3 fusion partner protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FB1|amida|INO80F" "amida, partner of the E2A|INO80 complex subunit F" TCF3 (E2A) fusion partner (in childhood Leukemia) INO80 complex 595 2000-09-27 2016-06-30 2023-01-20 29844 ENSG00000105619 OTTHUMG00000065906 uc010yej.1 AF052052 NM_013342 "CCDS12878|CCDS82396" P0C1Z6 "10644725|16230350" MGI:1916964 RGD:620839 609519 HGNC:13630 "ENST00000391759.6|NM_013342.4" HGNC:11762 TFR2 transferrin receptor 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "HFE3|TFRC2" M28 metallopeptidases 1444 1998-06-03 2023-01-20 7036 ENSG00000106327 OTTHUMG00000159598 uc064ggh.1 AF053356 NM_003227 CCDS34707 Q9UP52 "9799793|12130528|25767952" MGI:1354956 RGD:1310152 604720 120043 M28.973 HGNC:11762 "ENST00000223051.8|NM_003227.4" HGNC:11762 -HGNC:11763 TFRC transferrin receptor protein-coding gene gene with protein product Approved 3q29 03q29 "CD71|TFR1|p90" transferrin receptor (p90, CD71) "CD molecules|M28 metallopeptidases" "471|1444" 2001-06-22 2013-09-19 2023-01-20 7037 ENSG00000072274 OTTHUMG00000155714 uc003fwa.5 X01060 NM_001128148 "CCDS93444|CCDS3312|CCDS82891" P02786 MGI:98822 RGD:70488 190010 471214 M28.972 objectId:3196 CD71 HGNC:11763 "ENST00000360110.9|NM_001128148.3" HGNC:11763 +HGNC:11763 TFRC transferrin receptor protein-coding gene gene with protein product Approved 3q29 03q29 "CD71|TFR1|p90" transferrin receptor (p90, CD71) "CD molecules|M28 metallopeptidases" "471|1444" 2001-06-22 2013-09-19 2023-01-20 7037 ENSG00000072274 OTTHUMG00000155714 uc003fwa.5 X01060 NM_001128148 "CCDS3312|CCDS93444|CCDS82891" P02786 MGI:98822 RGD:70488 190010 471214 M28.972 objectId:3196 CD71 HGNC:11763 "ENST00000360110.9|NM_001128148.3" HGNC:11763 HGNC:11764 TG thyroglobulin protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "TGN|AITD3" 2001-06-22 2023-01-20 7038 ENSG00000042832 OTTHUMG00000164649 uc003ytw.4 AU141420 NM_003235 CCDS34944 P01266 MGI:98733 RGD:3848 188450 168347 HGNC:11764 "ENST00000220616.9|NM_003235.5" HGNC:11764 HGNC:20324 TGDS TDP-glucose 4,6-dehydratase protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "TDPGD|SDR2E1" short chain dehydrogenase/reductase family 2E, member 1 Short chain dehydrogenase/reductase superfamily 743 2003-04-10 2016-07-06 2023-01-20 23483 ENSG00000088451 OTTHUMG00000046308 uc001vlw.4 AF048686 NM_014305 CCDS9471 O95455 19027726 MGI:1923605 RGD:1306544 616146 419174 4.2.1.46 HGNC:20324 "ENST00000261296.7|NM_014305.4" HGNC:20324 -HGNC:11765 TGFA transforming growth factor alpha protein-coding gene gene with protein product Approved 2p13.3 02p13.3 transforming growth factor, alpha 2001-06-22 2015-11-05 2023-01-20 7039 ENSG00000163235 OTTHUMG00000129669 uc002sgs.4 NM_001099691 "CCDS1905|CCDS46316|CCDS77420|CCDS77419" P01135 "3459638|10552925" MGI:98724 RGD:3849 190170 159040 ligandId:5059 HGNC:11765 "ENST00000295400.11|NM_003236.4" HGNC:11765 +HGNC:11765 TGFA transforming growth factor alpha protein-coding gene gene with protein product Approved 2p13.3 02p13.3 transforming growth factor, alpha 2001-06-22 2015-11-05 2023-01-20 7039 ENSG00000163235 OTTHUMG00000129669 uc002sgs.4 NM_001099691 "CCDS46316|CCDS77420|CCDS77419|CCDS1905" P01135 "3459638|10552925" MGI:98724 RGD:3849 190170 159040 ligandId:5059 HGNC:11765 "ENST00000295400.11|NM_003236.4" HGNC:11765 HGNC:41389 TGFA-IT1 TGFA intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 TGFA intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874273 ENSG00000224606 OTTHUMG00000153490 uc061kjm.1 NR_046798 TGFA-IT1 HGNC:41389 HGNC:11766 TGFB1 transforming growth factor beta 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "CED|TGFbeta" "Camurati-Engelmann disease|prepro-transforming growth factor beta-1|Diaphyseal dysplasia 1, progressive" "TGFB|DPD1" transforming growth factor, beta 1 Transforming growth factor beta family 1664 2001-06-22 2015-11-05 2023-01-20 7040 ENSG00000105329 OTTHUMG00000182760 uc002oqh.4 X02812 NM_000660 CCDS33031 P01137 "10631145|10843814" MGI:98725 RGD:69051 190180 120047 ligandId:5060 HGNC:11766 "ENST00000221930.6|NM_000660.7" HGNC:11766 HGNC:11767 TGFB1I1 transforming growth factor beta 1 induced transcript 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "Hic-5|TSC-5|ARA55|HIC-5" hydrogen peroxide-inducible clone-5 LIM domain containing 1218 1998-03-23 2023-01-20 7041 ENSG00000140682 OTTHUMG00000132467 uc021tgx.1 AB007836 NM_001042454 "CCDS42156|CCDS10713" O43294 "9422762|10075738" MGI:102784 RGD:620173 602353 HGNC:11767 "ENST00000394863.8|NM_001042454.3" -HGNC:11768 TGFB2 transforming growth factor beta 2 protein-coding gene gene with protein product Approved 1q41 01q41 prepro-transforming growth factor beta-2 transforming growth factor, beta 2 Transforming growth factor beta family 1664 1989-05-10 2015-11-05 2023-01-20 7042 ENSG00000092969 OTTHUMG00000039521 uc001hlm.4 M19154 NM_003238 "CCDS44318|CCDS1521" P61812 MGI:98726 RGD:70491 190220 120052 ligandId:5061 HGNC:11768 "ENST00000366930.9|NM_003238.6" HGNC:11768 +HGNC:11768 TGFB2 transforming growth factor beta 2 protein-coding gene gene with protein product Approved 1q41 01q41 prepro-transforming growth factor beta-2 transforming growth factor, beta 2 Transforming growth factor beta family 1664 1989-05-10 2015-11-05 2023-01-20 7042 ENSG00000092969 OTTHUMG00000039521 uc001hlm.4 M19154 NM_003238 "CCDS1521|CCDS44318" P61812 MGI:98726 RGD:70491 190220 120052 ligandId:5061 HGNC:11768 "ENST00000366930.9|NM_003238.6" HGNC:11768 HGNC:50628 TGFB2-AS1 TGFB2 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 1q41 01q41 NR_046268 Antisense RNAs 1987 2014-05-30 2017-02-16 728463 ENSG00000232480 OTTHUMG00000039520 BX099841 NR_046268 27816668 TGFB2-AS1 HGNC:50628 HGNC:50629 TGFB2-OT1 TGFB2 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 FLJ11812 Overlapping transcripts 1988 2014-05-30 2015-08-26 103611157 ENSG00000281453 OTTHUMG00000189749 AK021874 NR_125715 "24879147|25437332" TGFB2-OT1 HGNC:50629 HGNC:11769 TGFB3 transforming growth factor beta 3 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 prepro-transforming growth factor beta-3 "ARVD1|ARVD" "arrhythmogenic right ventricular dysplasia 1|transforming growth factor, beta 3" Transforming growth factor beta family 1664 1989-05-10 2015-11-05 2023-01-20 7043 ENSG00000119699 OTTHUMG00000171489 uc001xsc.3 NM_003239 "CCDS86415|CCDS9846" P10600 "16549496|15639475" MGI:98727 RGD:3851 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TGFB3|LRG_399|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_399.xml" 190230 120054 ligandId:5062 HGNC:11769 "ENST00000238682.8|NM_003239.5" HGNC:11769 HGNC:53144 TGFB3-AS1 TGFB3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 ENST00000553732 Antisense RNAs 1987 2017-02-16 2017-02-16 109729179 ENSG00000258876 OTTHUMG00000171614 27816668 HGNC:11771 TGFBI transforming growth factor beta induced protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "BIGH3|CDB1|CDGG1" "CSD3|LCD1|CSD1|CSD2" "transforming growth factor, beta-induced, 68kD|transforming growth factor, beta-induced, 68kDa" 1995-07-18 2015-11-16 2023-01-20 7045 ENSG00000120708 OTTHUMG00000163213 uc003lbf.5 M77349 NM_000358 CCDS47266 Q15582 9463327 MGI:99959 RGD:620017 601692 120056 HGNC:11771 "ENST00000442011.7|NM_000358.3" HGNC:11771 -HGNC:11772 TGFBR1 transforming growth factor beta receptor 1 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "ALK-5|ACVRLK4|ALK5|TBRI|TBR-i" activin A receptor type II-like kinase, 53kDa "MSSE|ESS1" "multiple self-healing squamous epithelioma|transforming growth factor beta receptor I" Type 1 receptor serine/threonine kinases 345 1993-09-30 2016-04-27 2023-01-20 7046 ENSG00000106799 OTTHUMG00000020353 uc004azc.4 NM_001130916 "CCDS94447|CCDS78413|CCDS6738|CCDS47998" P36897 "1319842|8530052|21358634" MGI:98728 RGD:3852 LOVD - Center for Medical Genetics, Ghent, Belgium|http://medgen.ugent.be/LOVD2/home.php?select_db=TGFBR1 190181 120065 objectId:1788 HGNC:11772 "ENST00000374994.9|NM_004612.4" HGNC:11772 -HGNC:11773 TGFBR2 transforming growth factor beta receptor 2 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 "TBRII|TBR-ii" MFS2 "transforming growth factor, beta receptor II (70/80kDa)|transforming growth factor beta receptor II" Type 2 receptor serine/threonine kinases 346 1993-09-30 2016-04-27 2023-01-20 7048 ENSG00000163513 OTTHUMG00000130569 uc003ceo.4 NM_001024847 "CCDS2648|CCDS33727" P37173 "1319842|15235604" MGI:98729 RGD:69651 "LOVD - Center for Medical Genetics, Ghent, Belgium|http://medgen.ugent.be/LOVD2/home.php?select_db=TGFBR2|The TGFBR2 mutations database|http://www.umd.be/TGFBR2/|LRG_779|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_779.xml" TGFBR2 190182 120069 objectId:1795 HGNC:11773 "ENST00000295754.10|NM_003242.6" HGNC:11773 +HGNC:11772 TGFBR1 transforming growth factor beta receptor 1 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "ALK-5|ACVRLK4|ALK5|TBRI|TBR-i" activin A receptor type II-like kinase, 53kDa "MSSE|ESS1" "multiple self-healing squamous epithelioma|transforming growth factor beta receptor I" Type 1 receptor serine/threonine kinases 345 1993-09-30 2016-04-27 2023-01-20 7046 ENSG00000106799 OTTHUMG00000020353 uc004azc.4 NM_001130916 "CCDS94447|CCDS47998|CCDS78413|CCDS6738" P36897 "1319842|8530052|21358634" MGI:98728 RGD:3852 LOVD - Center for Medical Genetics, Ghent, Belgium|http://medgen.ugent.be/LOVD2/home.php?select_db=TGFBR1 190181 120065 objectId:1788 HGNC:11772 "ENST00000374994.9|NM_004612.4" HGNC:11772 +HGNC:11773 TGFBR2 transforming growth factor beta receptor 2 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 "TBRII|TBR-ii" MFS2 "transforming growth factor, beta receptor II (70/80kDa)|transforming growth factor beta receptor II" Type 2 receptor serine/threonine kinases 346 1993-09-30 2016-04-27 2023-01-20 7048 ENSG00000163513 OTTHUMG00000130569 uc003ceo.4 NM_001024847 "CCDS33727|CCDS2648" P37173 "1319842|15235604" MGI:98729 RGD:69651 "LOVD - Center for Medical Genetics, Ghent, Belgium|http://medgen.ugent.be/LOVD2/home.php?select_db=TGFBR2|The TGFBR2 mutations database|http://www.umd.be/TGFBR2/|LRG_779|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_779.xml" TGFBR2 190182 120069 objectId:1795 HGNC:11773 "ENST00000295754.10|NM_003242.6" HGNC:11773 HGNC:11774 TGFBR3 transforming growth factor beta receptor 3 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "betaglycan|BGCAN" betaglycan proteoglycan "transforming growth factor, beta receptor III|transforming growth factor beta receptor III" Proteoglycans 570 1993-09-30 2016-04-27 2023-01-20 7049 ENSG00000069702 OTTHUMG00000010097 uc001doh.4 L07594 NM_003243 "CCDS55614|CCDS30770" Q03167 "1333192|1319842" MGI:104637 RGD:61821 600742 375701 objectId:1796 HGNC:11774 "ENST00000212355.9|NM_003243.5" HGNC:44152 TGFBR3L transforming growth factor beta receptor 3 like protein-coding gene gene with protein product Approved 19p13.2 19p13.2 GEMP gonadotroph enriched membrane protein transforming growth factor, beta receptor III-like 2012-07-02 2016-04-27 2023-01-20 100507588 ENSG00000260001 OTTHUMG00000175717 uc021uoa.2 NM_001195259 CCDS58648 H3BV60 "26468016|33396509" MGI:3833469 RGD:1586419 HGNC:44152 "ENST00000565886.2|NM_001195259.2" HGNC:16836 TGFBRAP1 transforming growth factor beta receptor associated protein 1 protein-coding gene gene with protein product Approved 2q12.1-q12.2 02q12.1-q12.2 "TRAP-1|TRAP1|VPS3" VPS3 CORVET complex subunit transforming growth factor, beta receptor associated protein 1 CORVET complex 1532 2003-02-11 2015-11-05 2023-01-20 9392 ENSG00000135966 OTTHUMG00000130809 uc002tcq.5 AF022795 NM_004257 CCDS2067 Q8WUH2 "9545258|11278302|26463206" MGI:2447427 RGD:1310772 606237 HGNC:16836 "ENST00000393359.7|NM_004257.6" -HGNC:11776 TGIF1 TGFB induced factor homeobox 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "HPE4|TGIF" "TGFB-induced factor (TALE family homeobox)|TGFB-induced factor homeobox 1" TALE class homeoboxes and pseudogenes 526 1998-01-09 2007-01-30 2016-02-02 2023-01-20 7050 ENSG00000177426 OTTHUMG00000131511 uc060mxy.1 X89750 NM_170695 "CCDS11833|CCDS11835|CCDS11832" Q15583 "8537382|10835638" MGI:1194497 RGD:1310517 602630 8625 120072 HGNC:11776 "ENST00000343820.10|NM_003244.4" HGNC:11776 +HGNC:11776 TGIF1 TGFB induced factor homeobox 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "HPE4|TGIF" "TGFB-induced factor (TALE family homeobox)|TGFB-induced factor homeobox 1" TALE class homeoboxes and pseudogenes 526 1998-01-09 2007-01-30 2016-02-02 2023-01-20 7050 ENSG00000177426 OTTHUMG00000131511 uc060mxy.1 X89750 NM_170695 "CCDS11835|CCDS11832|CCDS11833" Q15583 "8537382|10835638" MGI:1194497 RGD:1310517 602630 8625 120072 HGNC:11776 "ENST00000343820.10|NM_003244.4" HGNC:11776 HGNC:30730 TGIF1P1 TGFB induced factor homeobox 1 pseudogene 1 pseudogene pseudogene Approved 19q13.32 19q13.32 TGFB-induced factor homeobox 1 pseudogene 1 TALE class homeoboxes and pseudogenes 526 2007-02-07 2016-02-02 2016-07-25 126052 ENSG00000259339 OTTHUMG00000158208 NG_002440 8595 PGOHUM00000295050 HGNC:30730 HGNC:15764 TGIF2 TGFB induced factor homeobox 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "TGFB-induced factor 2 (TALE family homeobox)|TGFB-induced factor homeobox 2" TALE class homeoboxes and pseudogenes 526 2001-05-31 2016-02-02 2023-01-20 60436 ENSG00000118707 OTTHUMG00000172332 uc021wcv.2 AB042646 NM_021809 CCDS13278 Q9GZN2 11006116 MGI:1915299 RGD:1560115 607294 8517 HGNC:15764 "ENST00000373872.9|NM_021809.7" HGNC:44664 TGIF2-RAB5IF TGIF2-RAB5IF readthrough other readthrough Approved 20q11.23 20q11.23 TGIF2-C20orf24 TGIF2-C20orf24 readthrough 2012-12-12 2018-03-16 2018-03-16 2023-03-15 100527943 ENSG00000259399 OTTHUMG00000032382 uc002xfo.4 NM_001199535 HGNC:44664 @@ -38635,17 +38638,17 @@ HGNC:11780 TGM4 transglutaminase 4 protein-coding gene gene with protein product HGNC:11781 TGM5 transglutaminase 5 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 "TGX|TGMX" protein-glutamine gamma-glutamyltransferase 5 Transglutaminases 773 1999-03-19 2023-01-20 9333 ENSG00000104055 OTTHUMG00000176488 uc001zrd.2 AF035960 NM_004245 "CCDS32212|CCDS32211" O43548 "9452468|11390390" MGI:1921426 RGD:1593350 603805 120083 2.3.2.13 HGNC:11781 "ENST00000220420.10|NM_201631.4" HGNC:11781 HGNC:16255 TGM6 transglutaminase 6 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ734P14.3|TGY|SCA35" "spinocerebellar ataxia 35|protein-glutamine gamma-glutamyltransferase 6" TGM3L transglutaminase 3-like Transglutaminases 773 2001-07-17 2004-07-07 2004-07-05 2023-01-20 343641 ENSG00000166948 OTTHUMG00000031692 uc002wfy.1 AF540970 NM_198994 "CCDS58761|CCDS13025" O95932 "11390390|21106500" MGI:3044321 RGD:1565348 613900 279644 2.3.2.13 HGNC:16255 "ENST00000202625.7|NM_198994.3" HGNC:16255 HGNC:30790 TGM7 transglutaminase 7 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 TGMZ transglutaminase Z Transglutaminases 773 2004-07-01 2023-01-20 116179 ENSG00000159495 OTTHUMG00000176547 uc001zrf.2 AF363393 NM_052955 CCDS32213 Q96PF1 11390390 MGI:2151164 RGD:7615199 606776 HGNC:30790 "ENST00000452443.3|NM_052955.3" -HGNC:15450 TGOLN2 trans-golgi network protein 2 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "TGN51|TGN46|TGN48|TGN38|TTGN2" trans-Golgi network protein (46, 48, 51kD isoforms) 2001-08-07 2023-01-20 10618 ENSG00000152291 OTTHUMG00000153017 uc002soz.4 AF027515 NM_006464 "CCDS46351|CCDS56126|CCDS92789|CCDS56127" O43493 "9422759|21994457" MGI:105079 RGD:620445 603062 HGNC:15450 "ENST00000377386.8|NM_006464.4" +HGNC:15450 TGOLN2 trans-golgi network protein 2 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "TGN51|TGN46|TGN48|TGN38|TTGN2" trans-Golgi network protein (46, 48, 51kD isoforms) 2001-08-07 2023-01-20 10618 ENSG00000152291 OTTHUMG00000153017 uc002soz.4 AF027515 NM_006464 "CCDS56127|CCDS92789|CCDS56126|CCDS46351" O43493 "9422759|21994457" MGI:105079 RGD:620445 603062 HGNC:15450 "ENST00000377386.8|NM_006464.4" HGNC:17843 TGS1 trimethylguanosine synthase 1 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 PIMT NCOA6IP "nuclear receptor coactivator 6 interacting protein|trimethylguanosine synthase homolog (S. cerevisiae)" 7BS DNA/RNA methyltransferases 2059 2001-12-19 2006-11-27 2010-06-25 2023-01-20 96764 ENSG00000137574 OTTHUMG00000164294 uc003xsj.5 AY028423 NM_024831 CCDS34894 Q96RS0 "11517327|11983179|19307714" MGI:2151797 RGD:1309953 606461 2.1.1.- HGNC:17843 "ENST00000260129.6|NM_024831.8" -HGNC:11782 TH tyrosine hydroxylase protein-coding gene gene with protein product Approved 11p15.5 11p15.5 DYT5b tyrosine 3-monooxygenase 1986-01-01 2023-01-20 7054 ENSG00000180176 OTTHUMG00000009559 uc001lvr.4 X05290 NM_000360 "CCDS7730|CCDS31338|CCDS7731" P07101 MGI:98735 RGD:3853 BIOMBD|http://www.biopku.org/home/biomdb.asp 191290 120086 objectId:1243 1.14.16.2 HGNC:11782 "ENST00000352909.8|NM_000360.4" HGNC:11782 +HGNC:11782 TH tyrosine hydroxylase protein-coding gene gene with protein product Approved 11p15.5 11p15.5 DYT5b tyrosine 3-monooxygenase 1986-01-01 2023-01-20 7054 ENSG00000180176 OTTHUMG00000009559 uc001lvr.4 X05290 NM_000360 "CCDS7731|CCDS31338|CCDS7730" P07101 MGI:98735 RGD:3853 BIOMBD|http://www.biopku.org/home/biomdb.asp 191290 120086 objectId:1243 1.14.16.2 HGNC:11782 "ENST00000352909.8|NM_000360.4" HGNC:11782 HGNC:40495 TH2LCRR T helper type 2 locus control region associated RNA non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 TH2-LCR Long non-coding RNAs with non-systematic symbols 1992 2015-05-01 2015-08-07 101927761 ENSG00000223442 OTTHUMG00000059612 NR_132124 25903499 TH2LCRR HGNC:40495 HGNC:18004 THA1P threonine aldolase 1, pseudogene pseudogene pseudogene Approved 17q25.3 17q25.3 GLY1 2005-06-16 2009-12-08 2020-08-14 390816 ENSG00000267676 OTTHUMG00000132125 XM_372682 15757516 MGI:1919026 RGD:1591140 HGNC:18004 -HGNC:19217 THADA THADA armadillo repeat containing protein-coding gene gene with protein product Approved 2p21 02p21 "FLJ21877|KIAA1767|GITA|ARMC13|Trm732" Trm732 homolog (S. cerevisiae) "thyroid adenoma associated|THADA, armadillo repeat containing" Armadillo repeat containing 409 2004-01-05 2019-01-25 2023-01-20 63892 ENSG00000115970 OTTHUMG00000152398 uc002rsx.4 AY149629 NM_022065 "CCDS62902|CCDS46268|CCDS62901" Q6YHU6 "12063398|25404562" MGI:3039623 RGD:1560519 611800 HGNC:19217 "ENST00000405975.7|NM_022065.5" +HGNC:19217 THADA THADA armadillo repeat containing protein-coding gene gene with protein product Approved 2p21 02p21 "FLJ21877|KIAA1767|GITA|ARMC13|Trm732" Trm732 homolog (S. cerevisiae) "thyroid adenoma associated|THADA, armadillo repeat containing" Armadillo repeat containing 409 2004-01-05 2019-01-25 2023-01-20 63892 ENSG00000115970 OTTHUMG00000152398 uc002rsx.4 AY149629 NM_022065 "CCDS62901|CCDS62902|CCDS46268" Q6YHU6 "12063398|25404562" MGI:3039623 RGD:1560519 611800 HGNC:19217 "ENST00000405975.7|NM_022065.5" HGNC:20856 THAP1 THAP domain containing 1 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "FLJ10477|4833431A01Rik" DYT6 "dystonia 6, torsion (autosomal dominant)|THAP domain containing, apoptosis associated protein 1" THAP domain containing 65 2003-07-21 2016-05-23 2023-01-20 55145 ENSG00000131931 OTTHUMG00000165276 uc003xpk.4 BC021721 NM_018105 "CCDS6136|CCDS6137" Q9NVV9 "12575992|12717420|19182804" MGI:1921004 RGD:1307589 609520 178822 HGNC:20856 "ENST00000254250.7|NM_018105.3" HGNC:20856 HGNC:20854 THAP2 THAP domain containing 2 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 DKFZP564I0422 THAP domain containing, apoptosis associated protein 2 THAP domain containing 65 2003-07-21 2016-05-23 2023-01-20 83591 ENSG00000173451 OTTHUMG00000169556 uc001swq.4 BC008358 NM_031435 CCDS9001 Q9H0W7 12575992 MGI:1914066 RGD:1593643 612531 HGNC:20854 "ENST00000308086.3|NM_031435.4" -HGNC:20855 THAP3 THAP domain containing 3 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 THAP domain containing, apoptosis associated protein 3 THAP domain containing 65 2003-07-21 2016-05-16 2023-01-20 90326 ENSG00000041988 OTTHUMG00000001440 uc001aoe.3 BC022081 NM_138350 "CCDS55572|CCDS55573|CCDS86" Q8WTV1 12575992 MGI:1917126 RGD:1308109 612532 HGNC:20855 "ENST00000054650.9|NM_001195753.2" +HGNC:20855 THAP3 THAP domain containing 3 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 THAP domain containing, apoptosis associated protein 3 THAP domain containing 65 2003-07-21 2016-05-16 2023-01-20 90326 ENSG00000041988 OTTHUMG00000001440 uc001aoe.3 BC022081 NM_138350 "CCDS55572|CCDS86|CCDS55573" Q8WTV1 12575992 MGI:1917126 RGD:1308109 612532 HGNC:20855 "ENST00000054650.9|NM_001195753.2" HGNC:23187 THAP4 THAP domain containing 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "CGI-36|Nb(III)" nitrobindin THAP domain containing 65 2003-10-08 2023-01-20 51078 ENSG00000176946 OTTHUMG00000133410 uc002wbt.4 AF258556 NM_015963 "CCDS2551|CCDS54440" Q8WY91 "12575992|10810093|30524950" MGI:1914276 RGD:1359473 612533 HGNC:23187 "ENST00000407315.6|NM_015963.6" -HGNC:23188 THAP5 THAP domain containing 5 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 DKFZp313O1132 THAP domain containing 65 2003-10-08 2023-01-20 168451 ENSG00000177683 OTTHUMG00000154951 uc064hbq.1 AL833137 NM_182529 "CCDS47687|CCDS34734" Q7Z6K1 12575992 612534 HGNC:23188 "ENST00000415914.4|NM_001130475.3" +HGNC:23188 THAP5 THAP domain containing 5 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 DKFZp313O1132 THAP domain containing 65 2003-10-08 2023-01-20 168451 ENSG00000177683 OTTHUMG00000154951 uc064hbq.1 AL833137 NM_182529 "CCDS34734|CCDS47687" Q7Z6K1 12575992 612534 HGNC:23188 "ENST00000415914.4|NM_001130475.3" HGNC:22340 THAP5P1 THAP domain containing 5 pseudogene 1 pseudogene pseudogene Approved 7q36.3 07q36.3 2012-11-13 2012-11-13 285872 ENSG00000224324 OTTHUMG00000153022 NG_005177 PGOHUM00000233094 HGNC:22340 HGNC:44502 THAP5P2 THAP domain containing 5 pseudogene 2 pseudogene pseudogene Approved 3p25.1 03p25.1 2012-11-13 2022-10-18 100129618 ENSG00000270739 NG_028903 PGOHUM00000257057 HGNC:44502 HGNC:23189 THAP6 THAP domain containing 6 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 MGC30052 THAP domain containing 65 2003-10-08 2023-01-20 152815 ENSG00000174796 OTTHUMG00000130108 uc003him.4 BC022989 NM_144721 "CCDS3568|CCDS82932" Q8TBB0 12575992 RGD:1310094 612535 HGNC:23189 "ENST00000311638.7|NM_144721.6" @@ -38671,9 +38674,9 @@ HGNC:11784 THBD thrombomodulin protein-coding gene gene with protein product App HGNC:11785 THBS1 thrombospondin 1 protein-coding gene gene with protein product Approved 15q14 15q14 "TSP1|THBS|TSP|THBS-1|TSP-1" thrombospondin-1p180 Thrombospondin family 2231 1989-10-10 2023-01-20 7057 ENSG00000137801 OTTHUMG00000133665 uc001zkh.4 NM_003246 CCDS32194 P07996 "2341158|2335352" MGI:98737 RGD:1588455 188060 HGNC:11785 "ENST00000260356.6|NM_003246.4" HGNC:55224 THBS1-AS1 THBS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q14 15q14 Antisense RNAs 1987 2020-09-16 2020-09-16 118597840 ENSG00000278621 HGNC:55225 THBS1-IT1 THBS1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 15q14 15q14 Intronic transcripts 1989 2020-09-16 2020-09-16 118597829 ENSG00000276107 -HGNC:11786 THBS2 thrombospondin 2 protein-coding gene gene with protein product Approved 6q27 06q27 TSP2 Thrombospondin family 2231 1991-11-21 2023-01-20 7058 ENSG00000186340 OTTHUMG00000045408 uc003qwt.5 NM_003247 "CCDS94038|CCDS34574" P35442 18455130 MGI:98738 RGD:1310979 188061 HGNC:11786 "ENST00000617924.6|NM_003247.5" +HGNC:11786 THBS2 thrombospondin 2 protein-coding gene gene with protein product Approved 6q27 06q27 TSP2 Thrombospondin family 2231 1991-11-21 2023-01-20 7058 ENSG00000186340 OTTHUMG00000045408 uc003qwt.5 NM_003247 "CCDS34574|CCDS94038" P35442 18455130 MGI:98738 RGD:1310979 188061 HGNC:11786 "ENST00000617924.6|NM_003247.5" HGNC:56059 THBS2-AS1 THBS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q27 06q27 Antisense RNAs 1987 2021-12-09 2022-01-17 101929523 ENSG00000226445 NR_134621 -HGNC:11787 THBS3 thrombospondin 3 protein-coding gene gene with protein product Approved 1q22 01q22 Thrombospondin family 2231 1994-11-18 2023-01-20 7059 ENSG00000169231 OTTHUMG00000035710 uc001fix.4 L38969 NM_007112 "CCDS1099|CCDS72937|CCDS58034" P49746 1601886 MGI:98739 RGD:1596780 188062 HGNC:11787 "ENST00000368378.7|NM_007112.5" HGNC:11787 +HGNC:11787 THBS3 thrombospondin 3 protein-coding gene gene with protein product Approved 1q22 01q22 Thrombospondin family 2231 1994-11-18 2023-01-20 7059 ENSG00000169231 OTTHUMG00000035710 uc001fix.4 L38969 NM_007112 "CCDS72937|CCDS58034|CCDS1099" P49746 1601886 MGI:98739 RGD:1596780 188062 HGNC:11787 "ENST00000368378.7|NM_007112.5" HGNC:11787 HGNC:40582 THBS3-AS1 THBS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q22 01q22 Antisense RNAs 1987 2020-03-30 2020-03-30 105371450 ENSG00000231064 OTTHUMG00000035709 NR_183234 HGNC:11788 THBS4 thrombospondin 4 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 Thrombospondin family 2231 1995-05-17 2023-01-20 7060 ENSG00000113296 OTTHUMG00000108173 uc021yaw.2 NM_001306212 "CCDS4049|CCDS78027" P35443 7852353 MGI:1101779 RGD:62046 600715 HGNC:11788 "ENST00000350881.6|NM_003248.6" HGNC:40583 THBS4-AS1 THBS4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 Antisense RNAs 1987 2020-03-30 2020-03-30 101929215 ENSG00000249825 OTTHUMG00000162569 NR_109930 @@ -38682,8 +38685,8 @@ HGNC:32692 THEM4P1 thioesterase superfamily member 4 pseudogene 1 pseudogene pse HGNC:26755 THEM5 thioesterase superfamily member 5 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ37964 Thioesterase superfamily 1832 2005-09-12 2023-01-20 284486 ENSG00000196407 OTTHUMG00000013070 uc021oyw.2 AK095283 NM_182578 CCDS1005 Q8N1Q8 MGI:1913448 RGD:1562059 615653 HGNC:26755 "ENST00000368817.10|NM_182578.4" HGNC:29656 THEM6 thioesterase superfamily member 6 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 DSCD75 C8orf55 chromosome 8 open reading frame 55 Thioesterase superfamily 1832 2005-08-26 2012-04-13 2012-04-13 2023-01-20 51337 ENSG00000130193 OTTHUMG00000164673 uc003yww.2 BC001311 NM_016647 CCDS6386 Q8WUY1 12477932 MGI:1925301 RGD:1359378 HGNC:29656 "ENST00000336138.4|NM_016647.3" HGNC:50386 THEM7P thioesterase superfamily member 7, pseudogene pseudogene pseudogene Approved 11p13 11p13 RP1-65P5.1 Thioesterase superfamily 1832 2014-04-21 2014-04-25 106480297 ENSG00000227160 OTTHUMG00000154120 NG_044232 MGI:1921338 RGD:1588621 HGNC:50386 -HGNC:21569 THEMIS thymocyte selection associated protein-coding gene gene with protein product Approved 6q22.33 06q22.33 "bA325O24.4|FLJ40584|bA325O24.3|THEMIS1" thymocyte expressed molecule involved in selection "C6orf207|C6orf190|TSEPA" "chromosome 6 open reading frame 207|chromosome 6 open reading frame 190|thymocyte selection pathway associated" 2003-11-25 2009-06-25 2009-06-25 2023-05-22 387357 ENSG00000172673 OTTHUMG00000015534 uc063rfx.1 AK094863 NM_001010923 "CCDS55055|CCDS55056|CCDS34534" Q8N1K5 "19597499|19597498|19597497" MGI:2443552 RGD:1560849 613607 HGNC:21569 "ENST00000368248.5|NM_001010923.3" -HGNC:16839 THEMIS2 thymocyte selection associated family member 2 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "ICB-1|Icb-1" induced by contact to basement membrane 1 C1orf38 chromosome 1 open reading frame 38 2003-01-16 2012-07-10 2012-07-10 2023-01-20 9473 ENSG00000130775 OTTHUMG00000003735 uc001bpc.6 AF044896 NM_004848 "CCDS30654|CCDS65461|CCDS30653|CCDS41290" Q5TEJ8 16219472 MGI:2446213 RGD:1561016 617856 HGNC:16839 "ENST00000373921.8|NM_001105556.3" +HGNC:21569 THEMIS thymocyte selection associated protein-coding gene gene with protein product Approved 6q22.33 06q22.33 "bA325O24.4|FLJ40584|bA325O24.3|THEMIS1" thymocyte expressed molecule involved in selection "C6orf207|C6orf190|TSEPA" "chromosome 6 open reading frame 207|chromosome 6 open reading frame 190|thymocyte selection pathway associated" 2003-11-25 2009-06-25 2009-06-25 2023-05-22 387357 ENSG00000172673 OTTHUMG00000015534 uc063rfx.1 AK094863 NM_001010923 "CCDS55056|CCDS34534|CCDS55055" Q8N1K5 "19597499|19597498|19597497" MGI:2443552 RGD:1560849 613607 HGNC:21569 "ENST00000368248.5|NM_001010923.3" +HGNC:16839 THEMIS2 thymocyte selection associated family member 2 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "ICB-1|Icb-1" induced by contact to basement membrane 1 C1orf38 chromosome 1 open reading frame 38 2003-01-16 2012-07-10 2012-07-10 2023-01-20 9473 ENSG00000130775 OTTHUMG00000003735 uc001bpc.6 AF044896 NM_004848 "CCDS41290|CCDS30654|CCDS30653|CCDS65461" Q5TEJ8 16219472 MGI:2446213 RGD:1561016 617856 HGNC:16839 "ENST00000373921.8|NM_001105556.3" HGNC:49196 THEMIS3P thymocyte selection associated family member 3, pseudogene pseudogene pseudogene Approved 18p11.22 18p11.22 2013-09-26 2019-12-17 100420484 ENSG00000229442 OTTHUMG00000154734 NG_026308 MGI:1921806 RGD:1591029 PGOHUM00000234982 HGNC:49196 HGNC:26053 THG1L tRNA-histidine guanylyltransferase 1 like protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "ICF45|FLJ11601|FLJ20546|IHG-1|hTHG1" "interphase cytoplasmic foci protein 45|induced by high glucose-1" "tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)|tRNA-histidine guanylyltransferase 1-like" 2006-09-01 2016-01-28 2023-01-20 54974 ENSG00000113272 OTTHUMG00000130254 uc003lxd.4 AK223119 NM_017872 CCDS4341 Q9NWX6 11230166 MGI:1913878 RGD:1359513 618802 HGNC:26053 "ENST00000231198.12|NM_017872.5" HGNC:26053 HGNC:26160 THNSL1 threonine synthase like 1 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "FLJ22002|TSH1" "threonine synthase-like 1 (bacterial)|threonine synthase-like 1 (S. cerevisiae)|threonine synthase-like 1" 2004-05-27 2015-12-04 2023-01-20 79896 ENSG00000185875 OTTHUMG00000017828 uc057shy.1 AK025655 NM_024838 CCDS7147 Q8IYQ7 17034760 MGI:2139347 RGD:1564213 611260 HGNC:26160 "ENST00000376356.5|NM_024838.5" @@ -38691,16 +38694,16 @@ HGNC:25602 THNSL2 threonine synthase like 2 protein-coding gene gene with protei HGNC:19070 THOC1 THO complex subunit 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "P84|HPR1" THO complex 1 THO complex 770 2002-12-09 2022-08-22 2023-01-20 9984 ENSG00000079134 OTTHUMG00000178051 uc002kkj.5 AK055354 NM_005131 CCDS45820 Q96FV9 "11979277|15998806" MGI:1919668 RGD:1308657 606930 HGNC:19070 "ENST00000261600.11|NM_005131.3" HGNC:19070 HGNC:55334 THOC1-DT THOC1 divergent transcript non-coding RNA RNA, long non-coding Approved 18p11.32 18p11.32 Divergent transcripts 1990 2020-10-21 2020-10-21 119139900 ENSG00000263884 HGNC:19073 THOC2 THO complex subunit 2 protein-coding gene gene with protein product Approved Xq25 Xq25 "THO2|dJ506G2.1" "CXorf3|MRX12|MRX35" "chromosome X open reading frame 3|mental retardation, X-linked 12|mental retardation, X-linked 35|THO complex 2" THO complex 770 2002-12-09 2022-08-22 2023-03-15 57187 ENSG00000125676 OTTHUMG00000022334 uc004etu.4 AF441770 NM_001081550 CCDS43988 Q8NI27 "11979277|15998806|26166480" MGI:2442413 RGD:1561623 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/THOC2 300395 460700 HGNC:19073 "ENST00000245838.13|NM_001081550.2" HGNC:19073 -HGNC:19072 THOC3 THO complex subunit 3 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "TEX1|MGC5469" THO complex 3 "WD repeat domain containing|THO complex" "362|770" 2002-12-09 2022-08-22 2023-01-20 84321 ENSG00000051596 OTTHUMG00000130658 uc003mdg.6 BC006849 NM_001376902 "CCDS4397|CCDS93829" Q96J01 "11979277|15998806" MGI:1920916 RGD:1311669 606929 HGNC:19072 "ENST00000265097.9|NM_032361.4" +HGNC:19072 THOC3 THO complex subunit 3 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "TEX1|MGC5469" THO complex 3 "WD repeat domain containing|THO complex" "362|770" 2002-12-09 2022-08-22 2023-01-20 84321 ENSG00000051596 OTTHUMG00000130658 uc003mdg.6 BC006849 NM_001376902 "CCDS93829|CCDS4397" Q96J01 "11979277|15998806" MGI:1920916 RGD:1311669 606929 HGNC:19072 "ENST00000265097.9|NM_032361.4" HGNC:40866 THOC3-AS1 THOC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 Antisense RNAs 1987 2020-03-30 2020-03-30 105377745 ENSG00000250801 OTTHUMG00000163180 NR_183278 HGNC:19074 THOC5 THO complex subunit 5 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "PK1.3|KIAA0983|Fmip|fSAP79" functional spliceosome-associated protein 79 C22orf19 "chromosome 22 open reading frame 19|THO complex 5" THO complex 770 2002-12-09 2022-08-22 2023-01-20 8563 ENSG00000100296 OTTHUMG00000151291 uc003afu.4 AB023200 NM_003678 CCDS13859 Q13769 "11979277|8242058|10231032|19015024|18373705|15998806" MGI:1351333 RGD:1304991 612733 HGNC:19074 "ENST00000490103.6|NM_003678.5" -HGNC:28369 THOC6 THO complex subunit 6 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MGC2655|fSAP35" functional spliceosome-associated protein 35 WDR58 "WD repeat domain 58|THO complex 6 homolog (Drosophila)|THO complex 6" "WD repeat domain containing|THO complex" "362|770" 2005-04-07 2006-03-02 2022-08-22 2023-01-20 79228 ENSG00000131652 OTTHUMG00000177451 uc002ctb.3 BC050674 NM_024339 "CCDS86500|CCDS10491|CCDS45392" Q86W42 15998806 MGI:2677480 RGD:708553 615403 364390 HGNC:28369 "ENST00000326266.13|NM_024339.5" HGNC:28369 +HGNC:28369 THOC6 THO complex subunit 6 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MGC2655|fSAP35" functional spliceosome-associated protein 35 WDR58 "WD repeat domain 58|THO complex 6 homolog (Drosophila)|THO complex 6" "WD repeat domain containing|THO complex" "362|770" 2005-04-07 2006-03-02 2022-08-22 2023-01-20 79228 ENSG00000131652 OTTHUMG00000177451 uc002ctb.3 BC050674 NM_024339 "CCDS86500|CCDS45392|CCDS10491" Q86W42 15998806 MGI:2677480 RGD:708553 615403 364390 HGNC:28369 "ENST00000326266.13|NM_024339.5" HGNC:28369 HGNC:29874 THOC7 THO complex subunit 7 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "NIF3L1BP1|FLJ23445|fSAP24" "Ngg1 interacting factor 3 like 1 binding protein 1|functional spliceosome-associated protein 24" "THO complex 7 homolog (Drosophila)|THO complex 7" THO complex 770 2006-03-16 2022-08-22 2023-01-20 80145 ENSG00000163634 OTTHUMG00000158767 uc003dlt.6 BC020599 NM_025075 "CCDS74957|CCDS2900" Q6I9Y2 "12951069|15998806" MGI:1913481 RGD:1305475 611965 HGNC:29874 "ENST00000295899.10|NM_025075.4" HGNC:41249 THOC7-AS1 THOC7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 THOC7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874039 ENSG00000240549 OTTHUMG00000158760 uc032rpy.1 NR_104326 THOC7-AS1 HGNC:41249 HGNC:11793 THOP1 thimet oligopeptidase 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 M3 metallopeptidase family 1438 1995-07-06 2023-01-20 7064 ENSG00000172009 OTTHUMG00000180492 uc002lwj.4 NM_003249 CCDS12095 P52888 "9790774|32847123" MGI:1354165 RGD:68330 601117 M03.001 3.4.24.15 HGNC:11793 "ENST00000307741.11|NM_003249.5" HGNC:53788 THORLNC testis associated oncogenic lncRNA non-coding RNA RNA, long non-coding Approved 2q14.2 02q14.2 THOR testis-associated highly-conserved oncogenic long non-coding RNA Long non-coding RNAs with non-systematic symbols 1992 2018-07-04 2018-07-04 100506797 ENSG00000226856 OTTHUMG00000153418 NR_144530 "29245011|29626476|29752937|29753746" 619296 HGNC:53788 -HGNC:11795 THPO thrombopoietin protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "TPO|MPLLG" "prepro-thrombopoietin|megakaryocyte stimulating factor|myeloproliferative leukemia virus oncogene ligand|megakaryocyte growth and development factor|MPL ligand|megakaryocyte colony-stimulating factor|c-mpl ligand|thrombopoietin nirs" MGDF Receptor ligands 542 1994-11-04 2008-07-31 2023-01-20 7066 ENSG00000090534 OTTHUMG00000156745 uc003fol.2 NM_000460 "CCDS93432|CCDS3265|CCDS93431|CCDS77867|CCDS54693" P40225 8202154 MGI:101875 RGD:621438 LRG_580|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_580.xml 600044 120091 ligandId:5063 HGNC:11795 "ENST00000647395.1|NM_000460.4" HGNC:11795 -HGNC:11796 THRA thyroid hormone receptor alpha protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "EAR-7.1/EAR-7.2|THRA3|AR7|ERBA|NR1A1|TRalpha|TRalpha1|TRalpha2|c-ERBA-1|c-erbA|THRalpha|THRalpha1|THRalpha2" "c-erbA protooncogene|nuclear receptor subfamily 1 group A member 1" "THRA1|THRA2|ERBA1" "thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)|thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)" Thyroid hormone receptors 2070 2001-06-22 2018-01-29 2023-01-20 7067 ENSG00000126351 OTTHUMG00000133332 uc002htv.4 J03239 NM_001190918 "CCDS11360|CCDS58546|CCDS42316" P10827 "6323162|6589608|25670821" MGI:98742 RGD:3857 190120 292134 objectId:588 HGNC:11796 "ENST00000450525.7|NM_199334.5" HGNC:11796 +HGNC:11795 THPO thrombopoietin protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "TPO|MPLLG" "prepro-thrombopoietin|megakaryocyte stimulating factor|myeloproliferative leukemia virus oncogene ligand|megakaryocyte growth and development factor|MPL ligand|megakaryocyte colony-stimulating factor|c-mpl ligand|thrombopoietin nirs" MGDF Receptor ligands 542 1994-11-04 2008-07-31 2023-01-20 7066 ENSG00000090534 OTTHUMG00000156745 uc003fol.2 NM_000460 "CCDS93431|CCDS93432|CCDS54693|CCDS3265|CCDS77867" P40225 8202154 MGI:101875 RGD:621438 LRG_580|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_580.xml 600044 120091 ligandId:5063 HGNC:11795 "ENST00000647395.1|NM_000460.4" HGNC:11795 +HGNC:11796 THRA thyroid hormone receptor alpha protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "EAR-7.1/EAR-7.2|THRA3|AR7|ERBA|NR1A1|TRalpha|TRalpha1|TRalpha2|c-ERBA-1|c-erbA|THRalpha|THRalpha1|THRalpha2" "c-erbA protooncogene|nuclear receptor subfamily 1 group A member 1" "THRA1|THRA2|ERBA1" "thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)|thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)" Thyroid hormone receptors 2070 2001-06-22 2018-01-29 2023-01-20 7067 ENSG00000126351 OTTHUMG00000133332 uc002htv.4 J03239 NM_001190918 "CCDS42316|CCDS58546|CCDS11360" P10827 "6323162|6589608|25670821" MGI:98742 RGD:3857 190120 292134 objectId:588 HGNC:11796 "ENST00000450525.7|NM_199334.5" HGNC:11796 HGNC:22964 THRAP3 thyroid hormone receptor associated protein 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "TRAP150|BCLAF2" "TR-associated protein, 150-kDa|BCLAF1 and THRAP3 family member 2" "WTAP complex|Spliceosomal A complex" "1420|1504" 2004-01-30 2023-01-20 9967 ENSG00000054118 OTTHUMG00000007866 uc001cae.5 AF117756 NM_005119 CCDS405 Q9Y2W1 MGI:2442637 RGD:1306129 603809 HGNC:22964 "ENST00000354618.10|NM_005119.4" HGNC:32386 THRAP3P1 THRAP3 pseudogene 1 pseudogene pseudogene Approved 3p23 03p23 THRAP3L "thyroid hormone receptor associated protein 3-like|thyroid hormone receptor associated protein 3 pseudogene 1" 2005-11-15 2010-01-14 2020-01-22 2020-04-20 391524 ENSG00000227339 OTTHUMG00000155810 NG_021114 HGNC:32386 HGNC:54830 THRAP3P2 THRAP3 pseudogene 2 pseudogene pseudogene Approved 15q26.1 15q26.1 2020-01-22 2020-01-22 100421632 ENSG00000259057 OTTHUMG00000171697 NG_025351 PGOHUM00000293077 @@ -38711,29 +38714,29 @@ HGNC:54854 THRB-AS2 THRB antisense RNA 2 non-coding RNA RNA, long non-coding App HGNC:41390 THRB-IT1 THRB intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p24.2 03p24.2 THRB intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874274 ENSG00000224822 OTTHUMG00000155680 uc062hny.1 THRB-IT1 HGNC:49503 THRIL TNF and HNRNPL related immunoregulatory long non-coding RNA non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 "Linc1992|TCONS_00020260|BRI3BP-AS1" "TNFalpha and hnRNPL related immunoregulatory LincRNA|BRI3BP antisense RNA 1" Long non-coding RNAs with non-systematic symbols 1992 2014-01-01 2016-11-24 102659353 ENSG00000280634 OTTHUMG00000189748 AK025766 NR_110375 24371310 615622 thril THRIL HGNC:49503 HGNC:11800 THRSP thyroid hormone responsive protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "SPOT14|Lpgp|S14|THRP" SPOT14 homolog (rat) LPGP1 "thyroid hormone responsive SPOT14 (rat) homolog|lipogenic protein 1" 1996-12-30 2010-06-25 2023-01-20 7069 ENSG00000151365 OTTHUMG00000166632 uc001oyx.4 Y08409 NM_003251 CCDS8256 Q92748 9003802 MGI:109126 RGD:3859 601926 HGNC:11800 "ENST00000281030.2|NM_003251.4" -HGNC:17754 THSD1 thrombospondin type 1 domain containing 1 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 TMTSP thrombospondin, type I, domain 1 2003-01-24 2015-11-09 2023-01-20 55901 ENSG00000136114 OTTHUMG00000016963 uc001vgo.4 AK096289 NM_018676 "CCDS9433|CCDS9432" Q9NS62 MGI:1929096 RGD:1306998 616821 HGNC:17754 "ENST00000258613.5|NM_018676.4" HGNC:17754 +HGNC:17754 THSD1 thrombospondin type 1 domain containing 1 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 TMTSP thrombospondin, type I, domain 1 2003-01-24 2015-11-09 2023-01-20 55901 ENSG00000136114 OTTHUMG00000016963 uc001vgo.4 AK096289 NM_018676 "CCDS9432|CCDS9433" Q9NS62 MGI:1929096 RGD:1306998 616821 HGNC:17754 "ENST00000258613.5|NM_018676.4" HGNC:17754 HGNC:31375 THSD1P1 thrombospondin type 1 domain containing 1 pseudogene 1 pseudogene pseudogene Approved 13q14.3 13q14.3 THSD1P thrombospondin, type I, domain containing 1 pseudogene 2004-03-17 2010-04-20 2015-11-09 2020-04-03 374500 ENSG00000285160 AK027536 NG_032770 PGOHUM00000248403 HGNC:31375 -HGNC:25835 THSD4 thrombospondin type 1 domain containing 4 protein-coding gene gene with protein product Approved 15q23 15q23 "FVSY9334|PRO34005|FLJ13710|ADAMTSL6" ADAMTS like 947 2006-02-08 2015-11-09 2023-01-20 79875 ENSG00000187720 OTTHUMG00000133389 uc002atb.2 AK023772 NM_024817 "CCDS10238|CCDS66817" Q6ZMP0 19734141 MGI:2672033 RGD:1566296 614476 HGNC:25835 "ENST00000261862.8|NM_024817.3" HGNC:25835 +HGNC:25835 THSD4 thrombospondin type 1 domain containing 4 protein-coding gene gene with protein product Approved 15q23 15q23 "FVSY9334|PRO34005|FLJ13710|ADAMTSL6" ADAMTS like 947 2006-02-08 2015-11-09 2023-01-20 79875 ENSG00000187720 OTTHUMG00000133389 uc002atb.2 AK023772 NM_024817 "CCDS66817|CCDS10238" Q6ZMP0 19734141 MGI:2672033 RGD:1566296 614476 HGNC:25835 "ENST00000261862.8|NM_024817.3" HGNC:25835 HGNC:51420 THSD4-AS1 THSD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 Antisense RNAs 1987 2014-11-21 2014-11-21 101929196 ENSG00000259964 OTTHUMG00000172838 "DA243226|DA296094" NR_120348 THSD4-AS1 HGNC:51420 HGNC:51421 THSD4-AS2 THSD4 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 15q23 15q23 Antisense RNAs 1987 2014-11-21 2014-11-21 101929173 AK055527 NR_120346 THSD4-AS2 HGNC:51421 HGNC:22207 THSD7A thrombospondin type 1 domain containing 7A protein-coding gene gene with protein product Approved 7p21.3 07p21.3 KIAA0960 2006-10-16 2015-11-09 2023-01-20 221981 ENSG00000005108 OTTHUMG00000152346 uc064bok.1 NM_015204 CCDS47543 Q9UPZ6 MGI:2685683 RGD:1566201 612249 HGNC:22207 "ENST00000423059.9|NM_015204.3" HGNC:29348 THSD7B thrombospondin type 1 domain containing 7B protein-coding gene gene with protein product Approved 2q22.1 02q22.1 KIAA1679 2006-10-16 2015-11-09 2023-01-20 80731 ENSG00000144229 OTTHUMG00000153590 uc061ock.1 NM_001316349 CCDS82515 Q9C0I4 11214970 MGI:2443925 RGD:1306938 HGNC:29348 "ENST00000409968.6|NM_001316349.2" HGNC:53785 THSD8 thrombospondin type 1 domain containing 8 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 2017-11-30 2017-11-30 111644133 ENSG00000284491 OTTHUMG00000191900 NM_001386800 A0A1W2PP97 RGD:41288257 "ENST00000639810.3|NM_001386800.1" -HGNC:18987 THTPA thiamine triphosphatase protein-coding gene gene with protein product Approved 14q11.2 14q11.2 THTPASE 2002-07-25 2023-01-20 79178 ENSG00000259431 OTTHUMG00000172558 uc001wkg.7 AF432862 NM_024328 "CCDS58307|CCDS58306|CCDS32053" Q9BU02 11827967 MGI:2446078 RGD:727917 611612 3.6.1.28 HGNC:18987 "ENST00000288014.7|NM_024328.6" +HGNC:18987 THTPA thiamine triphosphatase protein-coding gene gene with protein product Approved 14q11.2 14q11.2 THTPASE 2002-07-25 2023-01-20 79178 ENSG00000259431 OTTHUMG00000172558 uc001wkg.7 AF432862 NM_024328 "CCDS58306|CCDS58307|CCDS32053" Q9BU02 11827967 MGI:2446078 RGD:727917 611612 3.6.1.28 HGNC:18987 "ENST00000288014.7|NM_024328.6" HGNC:23807 THUMPD1 THUMP domain containing 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "FLJ20274|Tan1" 2004-06-04 2023-01-20 55623 ENSG00000066654 OTTHUMG00000131558 uc002dhp.5 BC000448 NM_017736 CCDS10588 Q9NXG2 25653167 MGI:2444479 RGD:1308854 616662 HGNC:23807 "ENST00000396083.7|NM_017736.5" HGNC:23808 THUMPD1P1 THUMP domain containing 1 pseudogene 1 pseudogene pseudogene Approved 21q21.3 21q21.3 2010-06-17 2014-11-19 391276 ENSG00000215317 OTTHUMG00000078749 NG_021991 PGOHUM00000239059 HGNC:23808 HGNC:14890 THUMPD2 THUMP domain containing 2 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 MGC2454 C2orf8 chromosome 2 open reading frame 8 7BS DNA/RNA methyltransferases 2059 2003-07-04 2004-06-04 2004-06-04 2023-01-20 80745 ENSG00000138050 OTTHUMG00000102149 uc002rru.3 AF380576 NM_025264 CCDS1805 Q9BTF0 12063391 MGI:1919417 RGD:1306878 611751 HGNC:14890 "ENST00000505747.6|NM_025264.5" HGNC:24493 THUMPD3 THUMP domain containing 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 DKFZP434F091 7BS DNA/RNA methyltransferases 2059 2004-06-04 2023-01-20 25917 ENSG00000134077 OTTHUMG00000097031 uc003brn.5 AL117483 NM_015453 CCDS2573 Q9BV44 34669960 MGI:1277973 RGD:1560852 HGNC:24493 "ENST00000452837.7|NM_001114092.2" HGNC:44478 THUMPD3-AS1 THUMPD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SETD5-AS1 SETD5 antisense RNA 1 Antisense RNAs 1987 2012-11-05 2014-01-14 2014-01-14 2021-10-11 440944 ENSG00000206573 OTTHUMG00000164357 BC052961 NR_027007 "30280788|34588321" MGI:104735 RGD:6491660 THUMPD3-AS1 HGNC:44478 HGNC:50793 THUMPD3P1 THUMP domain containing 3 pseudogene 1 pseudogene pseudogene Approved 7p14.1 07p14.1 2014-06-18 2014-06-18 100419989 ENSG00000248711 OTTHUMG00000155106 NG_023422 PGOHUM00000233203 HGNC:50793 -HGNC:11801 THY1 Thy-1 cell surface antigen protein-coding gene gene with protein product Approved 11q23.3 11q23.3 CD90 "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 2001-06-22 2023-01-20 7070 ENSG00000154096 OTTHUMG00000166202 uc001pwr.4 M11749 NM_006288 "CCDS8424|CCDS91612" P04216 2864690 MGI:98747 RGD:3860 188230 CD90 HGNC:11801 "ENST00000284240.10|NM_006288.5" +HGNC:11801 THY1 Thy-1 cell surface antigen protein-coding gene gene with protein product Approved 11q23.3 11q23.3 CD90 "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 2001-06-22 2023-01-20 7070 ENSG00000154096 OTTHUMG00000166202 uc001pwr.4 M11749 NM_006288 "CCDS91612|CCDS8424" P04216 2864690 MGI:98747 RGD:3860 188230 CD90 HGNC:11801 "ENST00000284240.10|NM_006288.5" HGNC:54852 THY1-AS1 THY1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 RP11-334E6.12 Antisense RNAs 1987 2020-02-28 2020-11-11 117134602 ENSG00000263873 32104091 HGNC:29560 THYN1 thymocyte nuclear protein 1 protein-coding gene gene with protein product Approved 11q25 11q25 THY28 2005-11-10 2023-01-20 29087 ENSG00000151500 OTTHUMG00000167176 uc001qhf.4 BC006978 NM_014174 "CCDS8497|CCDS8496" Q9P016 "14601557|12384300" MGI:1925112 RGD:1359525 613739 HGNC:29560 "ENST00000341541.8|NM_014174.3" -HGNC:11802 TIA1 TIA1 cytotoxic granule associated RNA binding protein protein-coding gene gene with protein product Approved 2p13.3 02p13.3 TIA-1 "T-cell-restricted intracellular antigen-1|nucleolysin TIA-1 isoform p40" TIA1 cytotoxic granule-associated RNA-binding protein RNA binding motif containing 725 1995-11-01 2016-08-11 2023-01-20 7072 ENSG00000116001 OTTHUMG00000129644 uc002sgk.5 NM_022037 "CCDS1900|CCDS86848|CCDS86847|CCDS1901|CCDS86846" P31483 "8176212|12486009" MGI:107914 RGD:1305742 603518 327795 HGNC:11802 "ENST00000433529.7|NM_022173.4" HGNC:11802 +HGNC:11802 TIA1 TIA1 cytotoxic granule associated RNA binding protein protein-coding gene gene with protein product Approved 2p13.3 02p13.3 TIA-1 "T-cell-restricted intracellular antigen-1|nucleolysin TIA-1 isoform p40" TIA1 cytotoxic granule-associated RNA-binding protein RNA binding motif containing 725 1995-11-01 2016-08-11 2023-01-20 7072 ENSG00000116001 OTTHUMG00000129644 uc002sgk.5 NM_022037 "CCDS1901|CCDS86846|CCDS86847|CCDS86848|CCDS1900" P31483 "8176212|12486009" MGI:107914 RGD:1305742 603518 327795 HGNC:11802 "ENST00000433529.7|NM_022173.4" HGNC:11802 HGNC:11804 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 TIAR TIA1 related TIA1 cytotoxic granule-associated RNA-binding protein-like 1 RNA binding motif containing 725 1995-11-01 2016-08-11 2023-03-15 7073 ENSG00000151923 OTTHUMG00000019156 uc001lei.2 AL833106 "NM_022333|NM_003252" "CCDS31295|CCDS7613" Q01085 1326761 MGI:107913 RGD:1595845 603413 HGNC:11804 "ENST00000436547.7|NM_003252.4" -HGNC:11805 TIAM1 TIAM Rac1 associated GEF 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 T-cell lymphoma invasion and metastasis 1 "Pleckstrin homology domain containing|Dbl family Rho GEFs|PDZ domain containing" "682|722|1220" 1994-04-22 2019-09-06 2023-01-20 7074 ENSG00000156299 OTTHUMG00000084869 uc002yow.2 NM_003253 "CCDS13609|CCDS86983" Q13009 "8595894|15340013|19893486" MGI:103306 RGD:1307455 600687 HGNC:11805 "ENST00000541036.6|NM_001353694.2" +HGNC:11805 TIAM1 TIAM Rac1 associated GEF 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 T-cell lymphoma invasion and metastasis 1 "Pleckstrin homology domain containing|Dbl family Rho GEFs|PDZ domain containing" "682|722|1220" 1994-04-22 2019-09-06 2023-01-20 7074 ENSG00000156299 OTTHUMG00000084869 uc002yow.2 NM_003253 "CCDS86983|CCDS13609" Q13009 "8595894|15340013|19893486" MGI:103306 RGD:1307455 600687 HGNC:11805 "ENST00000541036.6|NM_001353694.2" HGNC:54361 TIAM1-AS1 TIAM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 Antisense RNAs 1987 2021-06-28 2021-06-28 150051 ENSG00000237594 NR_171013 -HGNC:11806 TIAM2 TIAM Rac1 associated GEF 2 protein-coding gene gene with protein product Approved 6q25.2-q25.3 06q25.2-q25.3 STEF Sif and Tiam1-like exchange factor T-cell lymphoma invasion and metastasis 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs|PDZ domain containing" "682|722|1220" 1999-12-02 2019-09-06 2023-01-20 26230 ENSG00000146426 OTTHUMG00000015880 uc003qqb.3 NM_012454 "CCDS34558|CCDS34559" Q8IVF5 "10512681|19893486" MGI:1344338 RGD:2324148 604709 HGNC:11806 "ENST00000682666.1|NM_012454.4" +HGNC:11806 TIAM2 TIAM Rac1 associated GEF 2 protein-coding gene gene with protein product Approved 6q25.2-q25.3 06q25.2-q25.3 STEF Sif and Tiam1-like exchange factor T-cell lymphoma invasion and metastasis 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs|PDZ domain containing" "682|722|1220" 1999-12-02 2019-09-06 2023-01-20 26230 ENSG00000146426 OTTHUMG00000015880 uc003qqb.3 NM_012454 "CCDS34559|CCDS34558" Q8IVF5 "10512681|19893486" MGI:1344338 RGD:2324148 604709 HGNC:11806 "ENST00000682666.1|NM_012454.4" HGNC:18348 TICAM1 TIR domain containing adaptor molecule 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "TRIF|TICAM-1|MGC35334|PRVTIRB" "TIR domain-containing adaptor-inducing interferon-beta|proline-rich, vinculin and TIR domain-containing protein B" "toll-like receptor adaptor molecule 1|toll like receptor adaptor molecule 1" TIR domain containing 1296 2005-06-27 2022-04-28 2023-01-20 148022 ENSG00000127666 OTTHUMG00000180248 uc002mbi.5 AB086380 NM_014261 CCDS12136 Q8IUC6 "12539043|12471095" MGI:2147032 RGD:1590868 LRG_358|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_358.xml 607601 292419 HGNC:18348 "ENST00000248244.6|NM_182919.4" HGNC:18348 HGNC:21354 TICAM2 TIR domain containing adaptor molecule 2 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "TRAM|TICAM-2|TIRP" Trif-related adapter molecule "toll-like receptor adaptor molecule 2|toll like receptor adaptor molecule 2" TIR domain containing 1296 2004-07-02 2022-04-28 2023-01-20 353376 ENSG00000243414 OTTHUMG00000162905 uc003krc.4 AY232653 NM_021649 CCDS4119 Q86XR7 14519765 MGI:3040056 RGD:1308258 608321 HGNC:21354 "ENST00000427199.3|NM_021649.7" HGNC:55575 TICAM2-AS1 TICAM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q22.3 05q22.3 Antisense RNAs 1987 2021-04-22 2021-04-22 101927100 ENSG00000249249 NR_109874 @@ -38750,15 +38753,15 @@ HGNC:18336 TIGD5 tigger transposable element derived 5 protein-coding gene gene HGNC:18332 TIGD6 tigger transposable element derived 6 protein-coding gene gene with protein product Approved 5q32 05q32 DKFZp761E2110 "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 2002-07-22 2023-01-20 81789 ENSG00000164296 OTTHUMG00000130045 uc003lrj.4 AK056604 NM_030953 CCDS4301 Q17RP2 11230166 HGNC:18332 "ENST00000296736.4|NM_030953.4" HGNC:18331 TIGD7 tigger transposable element derived 7 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Sancho "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 2002-07-22 2023-01-20 91151 ENSG00000140993 OTTHUMG00000129325 uc002cus.4 AF251050 NM_033208 CCDS10500 Q6NT04 612969 HGNC:18331 "ENST00000396862.2|NM_033208.4" HGNC:26838 TIGIT T cell immunoreceptor with Ig and ITIM domains protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "FLJ39873|DKFZp667A205" "VSIG9|VSTM3" VSIG9, VSTM3 V-set domain containing 590 2006-02-07 2008-10-13 2017-12-06 2023-01-20 201633 ENSG00000181847 OTTHUMG00000159331 uc062mqn.1 AK097192 NM_173799 CCDS2980 Q495A1 19011627 MGI:3642260 RGD:1563191 612859 objectId:2941 HGNC:26838 "ENST00000383671.8|NM_173799.4" -HGNC:53077 TILRLS TCL1A interacting lncRNA, retroperitoneal liposarcoma associated non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 PILRLS proliferation interacting lncRNA in retroperitoneal liposarcoma Long non-coding RNAs with non-systematic symbols 1992 2021-11-18 2021-11-18 123706549 ENSG00000251206 OTTHUMG00000162351 28129655 -HGNC:25132 TIMD4 T cell immunoglobulin and mucin domain containing 4 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 TIM4 T-cell immunoglobulin and mucin domain containing 4 V-set domain containing 590 2004-07-22 2017-12-06 2023-01-20 91937 ENSG00000145850 OTTHUMG00000130244 uc003lwh.2 BC008988 NM_138379 "CCDS54943|CCDS4332" Q96H15 18082433 MGI:2445125 RGD:1564516 610096 HGNC:25132 "ENST00000274532.7|NM_138379.3" -HGNC:11813 TIMELESS timeless circadian regulator protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "hTIM|TIM|TIM1" "Tof1 homolog (S. cerevisiae)|timeless circadian clock 1" "timeless (Drosophila) homolog|timeless homolog (Drosophila)" 1999-01-08 2017-10-02 2023-01-20 8914 ENSG00000111602 OTTHUMG00000170600 uc001slf.3 AF098162 NM_003920 "CCDS8918|CCDS81699" Q9UNS1 9856465 MGI:1321393 RGD:620939 603887 HGNC:11813 "ENST00000553532.6|NM_003920.5" +HGNC:53077 TILRLS TCL1A interacting lncRNA, retroperitoneal liposarcoma associated non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 PILRLS proliferation interacting lncRNA in retroperitoneal liposarcoma Long non-coding RNAs with non-systematic symbols 1992 2021-11-18 2021-11-18 123706549 ENSG00000251206 OTTHUMG00000162351 NR_186086 28129655 +HGNC:25132 TIMD4 T cell immunoglobulin and mucin domain containing 4 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 TIM4 T-cell immunoglobulin and mucin domain containing 4 V-set domain containing 590 2004-07-22 2017-12-06 2023-01-20 91937 ENSG00000145850 OTTHUMG00000130244 uc003lwh.2 BC008988 NM_138379 "CCDS4332|CCDS54943" Q96H15 18082433 MGI:2445125 RGD:1564516 610096 HGNC:25132 "ENST00000274532.7|NM_138379.3" +HGNC:11813 TIMELESS timeless circadian regulator protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "hTIM|TIM|TIM1" "Tof1 homolog (S. cerevisiae)|timeless circadian clock 1" "timeless (Drosophila) homolog|timeless homolog (Drosophila)" 1999-01-08 2017-10-02 2023-01-20 8914 ENSG00000111602 OTTHUMG00000170600 uc001slf.3 AF098162 NM_003920 "CCDS81699|CCDS8918" Q9UNS1 9856465 MGI:1321393 RGD:620939 603887 HGNC:11813 "ENST00000553532.6|NM_003920.5" HGNC:11817 TIMM8A translocase of inner mitochondrial membrane 8A protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "DDP|MTS" DFN1 "translocase of inner mitochondrial membrane 8 (yeast) homolog A|translocase of inner mitochondrial membrane 8 homolog A (yeast)" 1999-12-01 2017-01-18 2023-01-20 1678 ENSG00000126953 OTTHUMG00000022028 uc004ehd.3 U66035 NM_004085 "CCDS87768|CCDS14481" O60220 "10552927|8841189" MGI:1353433 RGD:621801 300356 120107 HGNC:11817 "ENST00000372902.4|NM_004085.4" HGNC:11817 HGNC:17802 TIMM8AP1 translocase of inner mitochondrial membrane 8A pseudogene 1 pseudogene pseudogene Approved 2q24.2 02q24.2 DDPP deafness dystonia pseudogene TIMM8AP "translocase of inner mitochondrial membrane 8 homolog A (yeast) pseudogene|translocase of inner mitochondrial membrane 8 homolog A (yeast) pseudogene 1" 2007-07-26 2010-02-24 2017-01-18 2018-01-12 399520 ENSG00000231445 OTTHUMG00000154346 U66034 NG_003187.2 8841189 PGOHUM00000240411 HGNC:17802 HGNC:11818 TIMM8B translocase of inner mitochondrial membrane 8 homolog B protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "TIM8B|DDP2|FLJ21744|MGC102866|MGC117373" mitochondrial import inner membrane translocase subunit Tim8 B translocase of inner mitochondrial membrane 8 homolog B (yeast) 1999-12-01 2017-01-18 2023-01-20 26521 ENSG00000150779 OTTHUMG00000162261 uc058hho.1 AF150087 NM_012459 CCDS8357 Q9Y5J9 10552927 MGI:1353424 RGD:619840 606659 HGNC:11818 "ENST00000504148.3|NM_012459.4" HGNC:39211 TIMM8BP1 translocase of inner mitochondrial membrane 8B pseudogene 1 pseudogene pseudogene Approved 13q12.3 13q12.3 2010-11-23 2010-11-23 100874425 ENSG00000236258 OTTHUMG00000016660 NG_032236 PGOHUM00000248350 HGNC:39211 HGNC:39212 TIMM8BP2 translocase of inner mitochondrial membrane 8B pseudogene 2 pseudogene pseudogene Approved Xq26.2 Xq26.2 2010-11-23 2010-11-23 100874417 ENSG00000224908 OTTHUMG00000022449 NG_032237 PGOHUM00000250087 HGNC:39212 -HGNC:11819 TIMM9 translocase of inner mitochondrial membrane 9 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 TIM9A "translocase of inner mitochondrial membrane 9 (yeast) homolog|translocase of inner mitochondrial membrane 9 homolog (yeast)" TIM22 complex 1337 1999-12-01 2016-02-29 2023-01-20 26520 ENSG00000100575 OTTHUMG00000140322 uc001xds.4 AF150100 NM_001304485 "CCDS86394|CCDS86393|CCDS76685|CCDS9735" Q9Y5J7 "10552927|14726512" MGI:1353436 RGD:621656 607384 HGNC:11819 "ENST00000395159.7|NM_012460.4" +HGNC:11819 TIMM9 translocase of inner mitochondrial membrane 9 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 TIM9A "translocase of inner mitochondrial membrane 9 (yeast) homolog|translocase of inner mitochondrial membrane 9 homolog (yeast)" TIM22 complex 1337 1999-12-01 2016-02-29 2023-01-20 26520 ENSG00000100575 OTTHUMG00000140322 uc001xds.4 AF150100 NM_001304485 "CCDS76685|CCDS9735|CCDS86394|CCDS86393" Q9Y5J7 "10552927|14726512" MGI:1353436 RGD:621656 607384 HGNC:11819 "ENST00000395159.7|NM_012460.4" HGNC:39928 TIMM9P1 TIMM9 pseudogene 1 pseudogene pseudogene Approved 10q22.2 10q22.2 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 1 2011-04-12 2014-12-17 2014-12-17 100862726 ENSG00000236900 OTTHUMG00000018503 NG_030484 PGOHUM00000238535 HGNC:39928 HGNC:39929 TIMM9P2 TIMM9 pseudogene 2 pseudogene pseudogene Approved 21q22.2 21q22.2 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 2 2011-04-12 2014-12-17 2014-12-17 100862727 ENSG00000232608 OTTHUMG00000066153 NG_029919 PGOHUM00000239177 HGNC:39929 HGNC:39930 TIMM9P3 TIMM9 pseudogene 3 pseudogene pseudogene Approved 13q14.13 13q14.13 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 3 2011-04-12 2014-12-17 2014-12-17 100862725 ENSG00000232786 OTTHUMG00000016857 NG_032132 PGOHUM00000248390 HGNC:39930 @@ -38766,12 +38769,12 @@ HGNC:11814 TIMM10 translocase of inner mitochondrial membrane 10 protein-coding HGNC:4022 TIMM10B translocase of inner mitochondrial membrane 10B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "Tim9b|TIM10B" FXC1 "fracture callus 1 (rat) homolog|fracture callus 1 homolog (rat)|translocase of inner mitochondrial membrane 10 homolog B (yeast)" TIM22 complex 1337 1999-12-01 2012-12-07 2016-09-30 2023-01-20 26515 ENSG00000132286 OTTHUMG00000179826 uc001mdn.5 AF150105 NM_012192 CCDS7766 Q9Y5J6 10552927 MGI:1315196 RGD:71097 607388 HGNC:4022 "ENST00000254616.11|NM_012192.4" HGNC:11816 TIMM13 translocase of inner mitochondrial membrane 13 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Tim13 TIMM13B "translocase of inner mitochondrial membrane 13 (yeast) homolog B|translocase of inner mitochondrial membrane 13 homolog (yeast)" 1999-12-01 2002-03-17 2016-02-29 2023-01-20 26517 ENSG00000099800 OTTHUMG00000180432 uc002lvx.3 AF152352 NM_012458 CCDS12089 Q9Y5L4 "10552927|17329230" MGI:1353432 RGD:628845 607383 HGNC:11816 "ENST00000215570.8|NM_012458.4" HGNC:17315 TIMM17A translocase of inner mitochondrial membrane 17A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "TIM17|TIM17A" translocase of inner mitochondrial membrane 17 homolog A (yeast) "TIM23 complex|Tim17 family" "1552|1857" 2002-01-15 2017-01-18 2023-01-20 10440 ENSG00000134375 OTTHUMG00000035806 uc001gxc.3 AF106622 NM_006335 CCDS1417 Q99595 "8893850|10339406" MGI:1343131 RGD:3862 605057 HGNC:17315 "ENST00000367287.5|NM_006335.3" -HGNC:17310 TIMM17B translocase of inner mitochondrial membrane 17B protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "DXS9822|JM3" translocase of inner mitochondrial membrane 17 homolog B (yeast) "TIM23 complex|Tim17 family" "1552|1857" 2002-01-15 2017-01-18 2023-01-20 10245 ENSG00000126768 OTTHUMG00000034498 uc004dlc.2 AF034790 NM_005834 "CCDS55411|CCDS14308" O60830 10339406 MGI:1343176 RGD:1561744 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TIMM17B 300249 HGNC:17310 "ENST00000696123.1|NM_001395498.1" +HGNC:17310 TIMM17B translocase of inner mitochondrial membrane 17B protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "DXS9822|JM3" translocase of inner mitochondrial membrane 17 homolog B (yeast) "TIM23 complex|Tim17 family" "1552|1857" 2002-01-15 2017-01-18 2023-01-20 10245 ENSG00000126768 OTTHUMG00000034498 uc004dlc.2 AF034790 NM_005834 "CCDS14308|CCDS55411" O60830 10339406 MGI:1343176 RGD:1561744 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TIMM17B 300249 HGNC:17310 "ENST00000696123.1|NM_001395498.1" HGNC:49865 TIMM17BP1 translocase of inner mitochondrial membrane 17B pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 translocase of inner mitochondrial membrane 17 homolog B (yeast) pseudogene 1 2014-03-18 2017-01-18 2017-01-18 390298 ENSG00000256756 OTTHUMG00000168807 NG_030132 PGOHUM00000239693 HGNC:49865 HGNC:25010 TIMM21 translocase of inner mitochondrial membrane 21 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "HSPC154|TIM21" C18orf55 "chromosome 18 open reading frame 55|translocase of inner mitochondrial membrane 21 homolog (yeast)" TIM23 complex 1552 2005-01-06 2011-11-25 2016-03-07 2023-01-20 29090 ENSG00000075336 OTTHUMG00000132844 uc010dqr.2 BC000892 NM_014177 CCDS12003 Q9BVV7 "11042152|23260140" MGI:1920595 RGD:1307279 615180 HGNC:25010 "ENST00000169551.11|NM_014177.3" HGNC:17317 TIMM22 translocase of inner mitochondrial membrane 22 protein-coding gene gene with protein product Approved 17p13 17p13 TIM22 TEX4 "testis-expressed sequence 4|translocase of inner mitochondrial membrane 22 homolog (yeast)" "TIM22 complex|Tim17 family" "1337|1857" 2002-01-15 2016-09-30 2023-01-20 29928 ENSG00000177370 OTTHUMG00000180175 uc002fsc.4 AF155330 NM_013337 CCDS32521 Q9Y584 "10611480|14726512" MGI:1929742 RGD:68406 607251 HGNC:17317 "ENST00000327158.5|NM_013337.4" HGNC:17317 HGNC:17312 TIMM23 translocase of inner mitochondrial membrane 23 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 TIM23 translocase of inner mitochondrial membrane 23 homolog (yeast) "TIM23 complex|Small nucleolar RNA protein coding host genes|Tim17 family" "1552|1835|1857" 2002-01-15 2016-03-07 2023-01-20 100287932 ENSG00000265354 OTTHUMG00000188299 uc001jiu.5 AF030162 NM_006327.2 CCDS73091 O14925 "10339406|23260140" MGI:1858317 605034 HGNC:17312 "ENST00000580018.4|NM_006327.4" -HGNC:23581 TIMM23B translocase of inner mitochondrial membrane 23 homolog B protein-coding gene gene with protein product Approved 10q11.23 10q11.23 bA592B15.7 translocase of inner mitochondrial membrane 23 homolog B (yeast) "TIM23 complex|Small nucleolar RNA protein coding host genes" "1552|1835" 2004-05-28 2017-01-18 2023-01-20 100652748 ENSG00000204152 OTTHUMG00000018213 uc031wgt.2 NM_001290117 "CCDS73131|CCDS76301" Q5SRD1 MGI:1858317 HGNC:23581 "ENST00000651259.3|NM_001290117.2" +HGNC:23581 TIMM23B translocase of inner mitochondrial membrane 23 homolog B protein-coding gene gene with protein product Approved 10q11.23 10q11.23 bA592B15.7 translocase of inner mitochondrial membrane 23 homolog B (yeast) "TIM23 complex|Small nucleolar RNA protein coding host genes" "1552|1835" 2004-05-28 2017-01-18 2023-01-20 100652748 ENSG00000204152 OTTHUMG00000018213 uc031wgt.2 NM_001290117 "CCDS76301|CCDS73131" Q5SRD1 MGI:1858317 HGNC:23581 "ENST00000651259.3|NM_001290117.2" HGNC:45009 TIMM23B-AGAP6 TIMM23B-AGAP6 readthrough (NMD candidate) other readthrough Approved 10q11.23 10q11.23 LINC00843 long intergenic non-protein coding RNA 843 2013-01-07 2019-06-20 2019-12-20 2019-12-20 113218477 ENSG00000178440 OTTHUMG00000018218 uc057tfo.1 BC035067 NR_158656 LINC00843 HGNC:45009 HGNC:25152 TIMM29 translocase of inner mitochondrial membrane 29 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 TIM29 C19orf52 chromosome 19 open reading frame 52 TIM22 complex 1337 2006-08-08 2016-09-30 2016-09-30 2023-01-20 90580 ENSG00000142444 OTTHUMG00000180700 uc002mqd.3 BC011833 NM_138358 CCDS12252 Q9BSF4 27554484 MGI:1917023 RGD:1309188 617380 HGNC:25152 "ENST00000270502.7|NM_138358.4" HGNC:17316 TIMM44 translocase of inner mitochondrial membrane 44 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 TIM44 translocase of inner mitochondrial membrane 44 homolog (yeast) TIM23 complex 1552 2002-01-15 2016-03-07 2023-01-20 10469 ENSG00000104980 OTTHUMG00000182478 uc002miz.4 AF026030 NM_006351 CCDS12192 O43615 "10848612|10339406" MGI:1343262 RGD:3864 605058 HGNC:17316 "ENST00000270538.8|NM_006351.4" HGNC:17316 @@ -38784,52 +38787,52 @@ HGNC:11822 TIMP3 TIMP metallopeptidase inhibitor 3 protein-coding gene gene with HGNC:11823 TIMP4 TIMP metallopeptidase inhibitor 4 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 tissue inhibitor of metalloproteinase 4 Tissue inhibitor of metallopeptidases 892 1997-07-07 2005-08-08 2023-01-20 7079 ENSG00000157150 OTTHUMG00000129763 uc003bwo.4 U76456 NM_003256 CCDS2608 Q99727 "8939999|9693046" MGI:109125 RGD:69077 601915 I35.004 ligandId:5312 HGNC:11823 "ENST00000287814.5|NM_003256.4" HGNC:14599 TINAG tubulointerstitial nephritis antigen protein-coding gene gene with protein product Approved 6p12.1 06p12.1 Peptidase family C1 2109 2001-04-05 2023-01-20 27283 ENSG00000137251 OTTHUMG00000014893 uc003pcj.3 AB022277 NM_014464 CCDS4955 Q9UJW2 10652240 MGI:1349477 RGD:1359482 606749 C01.973 HGNC:14599 "ENST00000259782.9|NM_014464.4" HGNC:40691 TINAG-AS1 TINAG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 Antisense RNAs 1987 2020-03-30 2020-03-30 107986605 ENSG00000228231 OTTHUMG00000014892 XR_001744174 -HGNC:19168 TINAGL1 tubulointerstitial nephritis antigen like 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "P3ECSL|LIECG3|ARG1|TINAGRP" androgen regulated gene 1 LCN7 "lipocalin 7|TINAG-like 1" Peptidase family C1 2109 2002-08-29 2005-08-18 2016-03-11 2023-01-20 64129 ENSG00000142910 OTTHUMG00000003884 uc001bta.4 AB050716 NM_022164 "CCDS55586|CCDS343|CCDS72745" Q9GZM7 "11170462|11377975" MGI:2137617 RGD:70956 616064 C01.975 HGNC:19168 "ENST00000271064.12|NM_022164.3" +HGNC:19168 TINAGL1 tubulointerstitial nephritis antigen like 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "P3ECSL|LIECG3|ARG1|TINAGRP" androgen regulated gene 1 LCN7 "lipocalin 7|TINAG-like 1" Peptidase family C1 2109 2002-08-29 2005-08-18 2016-03-11 2023-01-20 64129 ENSG00000142910 OTTHUMG00000003884 uc001bta.4 AB050716 NM_022164 "CCDS72745|CCDS343|CCDS55586" Q9GZM7 "11170462|11377975" MGI:2137617 RGD:70956 616064 C01.975 HGNC:19168 "ENST00000271064.12|NM_022164.3" HGNC:14607 TINCR TINCR ubiquitin domain containing protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLJ90734|NCRNA00036|LINC00036|onco-lncRNA-16|TUBL" "non-protein coding RNA 36|long intergenic non-protein coding RNA 36|terminal differentiation-induced ncRNA|TINCR-encoded ubiquitin-like protein" PLAC2 "placenta-specific 2|placenta-specific 2 (non-protein coding)|tissue differentiation-inducing non-protein coding RNA" 2002-04-03 2012-12-05 2017-07-20 2023-03-15 257000 ENSG00000223573 OTTHUMG00000150390 uc002mcc.7 BG354568 NM_001396408 "CCDS92495|CCDS92496" A0A2R8Y7D0 "23201690|24019000|32012357" MGI:5012404 RGD:9685200 615241 tincr TINCR HGNC:14607 -HGNC:11824 TINF2 TERF1 interacting nuclear factor 2 protein-coding gene gene with protein product Approved 14q12 14q12 TIN2 TERF1 (TRF1)-interacting nuclear factor 2 Shelterin complex 1334 1999-11-19 2016-05-04 2023-01-20 26277 ENSG00000092330 OTTHUMG00000171849 uc001woa.5 AF195512 NM_001099274 "CCDS41937|CCDS86378|CCDS41936" Q9BSI4 "10581025|18252230" MGI:107246 RGD:1359192 LRG_342|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_342.xml 604319 140050 HGNC:11824 "ENST00000267415.12|NM_001099274.3" HGNC:11824 +HGNC:11824 TINF2 TERF1 interacting nuclear factor 2 protein-coding gene gene with protein product Approved 14q12 14q12 TIN2 TERF1 (TRF1)-interacting nuclear factor 2 Shelterin complex 1334 1999-11-19 2016-05-04 2023-01-20 26277 ENSG00000092330 OTTHUMG00000171849 uc001woa.5 AF195512 NM_001099274 "CCDS41937|CCDS41936|CCDS86378" Q9BSI4 "10581025|18252230" MGI:107246 RGD:1359192 LRG_342|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_342.xml 604319 140050 HGNC:11824 "ENST00000267415.12|NM_001099274.3" HGNC:11824 HGNC:23696 TIPARP TCDD inducible poly(ADP-ribose) polymerase protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "DKFZP434J214|DKFZp686N0351|DDF1|PARP7|PARP-7|PARP-1|pART14|RM1|ARTD14" TCDD-inducible poly(ADP-ribose) polymerase Poly(ADP-ribose) polymerases 684 2003-12-02 2016-04-04 2023-01-20 25976 ENSG00000163659 OTTHUMG00000158646 uc003fav.4 BX537965 NM_015508 CCDS3177 Q7Z3E1 12851707 MGI:2159210 RGD:1306171 612480 HGNC:23696 "ENST00000295924.12|NM_015508.5" HGNC:41028 TIPARP-AS1 TIPARP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 TIPARP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100287227 ENSG00000243926 OTTHUMG00000158643 uc062pgr.1 NR_027954 TIPARP-AS1 HGNC:41028 HGNC:30750 TIPIN TIMELESS interacting protein protein-coding gene gene with protein product Approved 15q22.31 15q22.31 FLJ20516 CSM3 homolog (S. cerevisiae) Small nucleolar RNA protein coding host genes 1835 2006-08-08 2006-08-08 2023-01-20 54962 ENSG00000075131 OTTHUMG00000133188 uc002apr.3 BK001386 NM_017858 CCDS10215 Q9BVW5 "12875843|17102137" MGI:1921571 RGD:1564084 610716 HGNC:30750 "ENST00000261881.9|NM_017858.3" HGNC:54963 TIPINP1 TIPIN pseudogene 1 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 100125392 ENSG00000235416 NG_006903 HGNC:56789 TIPINP2 TIPIN pseudogene 2 pseudogene pseudogene Approved 16q21 16q21 2023-04-18 2023-04-18 100125393 ENSG00000261151 NG_006904 PGOHUM00000293617 -HGNC:30231 TIPRL TOR signaling pathway regulator protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "MGC3794|dJ69E11.3|TIP41|TIPRL1" TIP41, TOR signaling pathway regulator-like (S. cerevisiae) Protein phosphatase 2 modulatory subunits 1265 2005-05-27 2014-03-07 2023-01-20 261726 ENSG00000143155 OTTHUMG00000034646 uc001gfg.5 AB097034 NM_152902 "CCDS1270|CCDS30935" O75663 12761501 MGI:1915087 RGD:1310442 611807 HGNC:30231 "ENST00000367833.7|NM_152902.5" -HGNC:17192 TIRAP TIR domain containing adaptor protein protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "Mal|wyatt" MyD88 adapter-like Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein TIR domain containing 1296 2003-06-05 2016-06-17 2023-01-20 114609 ENSG00000150455 OTTHUMG00000140373 uc001qdo.1 AF378129 NM_148910 "CCDS8472|CCDS41731" P58753 "11526399|11544529" MGI:2152213 RGD:1595496 606252 HGNC:17192 "ENST00000392679.6|NM_001318777.2" +HGNC:30231 TIPRL TOR signaling pathway regulator protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "MGC3794|dJ69E11.3|TIP41|TIPRL1" TIP41, TOR signaling pathway regulator-like (S. cerevisiae) Protein phosphatase 2 modulatory subunits 1265 2005-05-27 2014-03-07 2023-01-20 261726 ENSG00000143155 OTTHUMG00000034646 uc001gfg.5 AB097034 NM_152902 "CCDS30935|CCDS1270" O75663 12761501 MGI:1915087 RGD:1310442 611807 HGNC:30231 "ENST00000367833.7|NM_152902.5" +HGNC:17192 TIRAP TIR domain containing adaptor protein protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "Mal|wyatt" MyD88 adapter-like Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein TIR domain containing 1296 2003-06-05 2016-06-17 2023-01-20 114609 ENSG00000150455 OTTHUMG00000140373 uc001qdo.1 AF378129 NM_148910 "CCDS41731|CCDS8472" P58753 "11526399|11544529" MGI:2152213 RGD:1595496 606252 HGNC:17192 "ENST00000392679.6|NM_001318777.2" HGNC:56069 TIRAP-AS1 TIRAP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 Antisense RNAs 1987 2021-12-13 2021-12-13 105369557 ENSG00000255062 XR_948146 HGNC:17949 TJAP1 tight junction associated protein 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 PILT TJP4 "tight junction protein 4 (peripheral)|tight junction associated protein 1 (peripheral)" 2002-01-10 2005-07-05 2016-03-11 2023-01-20 93643 ENSG00000137221 OTTHUMG00000014736 uc011dvh.1 AK024269 NM_080604 "CCDS55004|CCDS4898" Q5JTD0 11602598 MGI:1921344 RGD:1308708 612658 HGNC:17949 "ENST00000372449.6|NM_001350562.2" HGNC:55129 TJAP1P1 TJAP1 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2020-07-02 2020-07-02 392539 ENSG00000234592 NG_011687 -HGNC:11827 TJP1 tight junction protein 1 protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "ZO-1|MGC133289|DKFZp686M05161" "zona occludens 1|tight junction protein ZO-1" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-04-26 2012-07-12 2023-01-20 7082 ENSG00000104067 OTTHUMG00000137397 uc001zcr.4 NM_003257 "CCDS91971|CCDS73702|CCDS91970|CCDS81858|CCDS42007|CCDS45199" Q07157 8825647 MGI:98759 RGD:1306305 601009 HGNC:11827 "ENST00000614355.5|NM_001330239.4" HGNC:11827 +HGNC:11827 TJP1 tight junction protein 1 protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "ZO-1|MGC133289|DKFZp686M05161" "zona occludens 1|tight junction protein ZO-1" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-04-26 2012-07-12 2023-01-20 7082 ENSG00000104067 OTTHUMG00000137397 uc001zcr.4 NM_003257 "CCDS91971|CCDS45199|CCDS73702|CCDS42007|CCDS91970|CCDS81858" Q07157 8825647 MGI:98759 RGD:1306305 601009 HGNC:11827 "ENST00000614355.5|NM_001330239.4" HGNC:11827 HGNC:14167 TJP1P1 tight junction protein 1 pseudogene 1 pseudogene pseudogene Approved 16p13.3 16p13.3 TJP1P tight junction protein 1 pseudogene 2000-12-21 2016-02-17 2016-02-17 2016-02-17 64730 NG_033129 HGNC:14167 -HGNC:11828 TJP2 tight junction protein 2 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "ZO-2|X104|ZO2" "Friedreich ataxia region gene X104 (tight junction protein ZO-2)|zona occludens 2" DFNA51 deafness, autosomal dominant 51 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1999-07-01 2012-07-12 2023-03-15 9414 ENSG00000119139 OTTHUMG00000019978 uc011lrv.2 L27476 NM_201629 "CCDS6627|CCDS94416|CCDS55316|CCDS6628|CCDS55315" Q9UDY2 "7951235|20602916" MGI:1341872 RGD:619807 LRG_1201|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1201.xml 607709 242924 HGNC:11828 "ENST00000377245.9|NM_004817.4" HGNC:11828 +HGNC:11828 TJP2 tight junction protein 2 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "ZO-2|X104|ZO2" "Friedreich ataxia region gene X104 (tight junction protein ZO-2)|zona occludens 2" DFNA51 deafness, autosomal dominant 51 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1999-07-01 2012-07-12 2023-03-15 9414 ENSG00000119139 OTTHUMG00000019978 uc011lrv.2 L27476 NM_201629 "CCDS6627|CCDS55316|CCDS55315|CCDS94416|CCDS6628" Q9UDY2 "7951235|20602916" MGI:1341872 RGD:619807 LRG_1201|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1201.xml 607709 242924 HGNC:11828 "ENST00000377245.9|NM_004817.4" HGNC:11828 HGNC:11829 TJP3 tight junction protein 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ZO-3 zona occludens 3 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 2000-02-16 2012-07-12 2023-01-20 27134 ENSG00000105289 OTTHUMG00000180872 uc010xhs.4 AC005954 NM_001267560 "CCDS32873|CCDS59332" O95049 MGI:1351650 RGD:1309247 612689 HGNC:11829 "ENST00000541714.7|NM_001267560.2" -HGNC:11830 TK1 thymidine kinase 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 cytosolic thymidine kinase thymidine kinase 1, soluble Deoxyribonucleoside kinases 1699 2001-06-22 2016-04-05 2023-01-20 7083 ENSG00000167900 OTTHUMG00000150674 uc002juw.3 NM_003258 "CCDS11754|CCDS86642|CCDS86643" P04183 MGI:98763 RGD:621014 188300 2.7.1.21 HGNC:11830 "ENST00000301634.12|NM_003258.5" -HGNC:11831 TK2 thymidine kinase 2 protein-coding gene gene with protein product Approved 16q21 16q21 SCA31 mitochondrial thymidine kinase thymidine kinase 2, mitochondrial Deoxyribonucleoside kinases 1699 2001-06-22 2019-01-15 2023-01-20 7084 ENSG00000166548 OTTHUMG00000137499 uc002eos.3 NM_001172643 "CCDS54016|CCDS61955|CCDS54017|CCDS54018|CCDS92169|CCDS10805" O00142 MGI:1913266 RGD:1309279 188250 120120 2.7.1.21 HGNC:11831 "ENST00000544898.6|NM_004614.5" HGNC:11831 +HGNC:11830 TK1 thymidine kinase 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 cytosolic thymidine kinase thymidine kinase 1, soluble Deoxyribonucleoside kinases 1699 2001-06-22 2016-04-05 2023-01-20 7083 ENSG00000167900 OTTHUMG00000150674 uc002juw.3 NM_003258 "CCDS86643|CCDS11754|CCDS86642" P04183 MGI:98763 RGD:621014 188300 2.7.1.21 HGNC:11830 "ENST00000301634.12|NM_003258.5" +HGNC:11831 TK2 thymidine kinase 2 protein-coding gene gene with protein product Approved 16q21 16q21 SCA31 mitochondrial thymidine kinase thymidine kinase 2, mitochondrial Deoxyribonucleoside kinases 1699 2001-06-22 2019-01-15 2023-01-20 7084 ENSG00000166548 OTTHUMG00000137499 uc002eos.3 NM_001172643 "CCDS54016|CCDS92169|CCDS61955|CCDS10805|CCDS54017|CCDS54018" O00142 MGI:1913266 RGD:1309279 188250 120120 2.7.1.21 HGNC:11831 "ENST00000544898.6|NM_004614.5" HGNC:11831 HGNC:24552 TKFC triokinase and FMN cyclase protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "DKFZP586B1621|NET45" FAD-AMP lyase (cyclizing) DAK "dihydroxyacetone kinase 2 homolog (yeast)|dihydroxyacetone kinase 2 homolog (S. cerevisiae)|triokinase/FMN cyclase" 2005-10-07 2015-03-20 2016-01-18 2023-01-20 26007 ENSG00000149476 OTTHUMG00000168076 NM_015533 CCDS8003 Q3LXA3 24569995 MGI:2385084 RGD:1311026 615844 "2.7.1.28|4.6.1.15" HGNC:24552 "ENST00000394900.8|NM_015533.4" HGNC:24552 HGNC:11834 TKT transketolase protein-coding gene gene with protein product Approved 3p21.1 03p21.1 Wernicke-Korsakoff syndrome 1992-06-10 2008-07-31 2023-01-20 7086 ENSG00000163931 OTTHUMG00000158192 uc003dgq.5 NM_001064 "CCDS58834|CCDS2871" P29401 1567394 MGI:105992 RGD:621036 606781 2.2.1.1 HGNC:11834 "ENST00000462138.6|NM_001064.4" HGNC:11834 HGNC:11835 TKTL1 transketolase like 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "TKR|TKT2" 1998-09-25 2016-06-03 2023-01-20 8277 ENSG00000007350 OTTHUMG00000022707 uc004fkg.4 X91817 NM_012253 "CCDS55541|CCDS35448" P51854 8838793 MGI:1933244 RGD:1593490 300044 HGNC:11835 "ENST00000369915.8|NM_012253.4" HGNC:25313 TKTL2 transketolase like 2 protein-coding gene gene with protein product Approved 4q32.2 04q32.2 "FLJ32975|DKFZP434L1717" similar to transketolase 2005-04-08 2016-06-03 2023-01-20 84076 ENSG00000151005 OTTHUMG00000161527 uc003iqp.5 BC028707 NM_032136 CCDS3805 Q9H0I9 11230166 MGI:1921669 RGD:1304767 HGNC:25313 "ENST00000280605.5|NM_032136.5" HGNC:25177 TLCD1 TLC domain containing 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 calfacilitin TLC domain containing 1374 2005-12-20 2023-01-20 116238 ENSG00000160606 OTTHUMG00000132683 uc002hco.4 BC014072 NM_138463 "CCDS11242|CCDS54102" Q96CP7 "12151215|23673622" MGI:1915572 RGD:1359195 HGNC:25177 "ENST00000292090.8|NM_138463.4" HGNC:33522 TLCD2 TLC domain containing 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 TLC domain containing 1374 2008-03-14 2023-01-20 727910 ENSG00000185561 OTTHUMG00000132477 uc021tnh.2 NM_001164407 CCDS45567 A6NGC4 16793762 MGI:1917141 RGD:1562631 HGNC:33522 "ENST00000330676.8|NM_001164407.2" -HGNC:29646 TLCD3A TLC domain containing 3A protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ22282|CT120" FAM57A family with sequence similarity 57 member A TLC domain containing 1374 2005-03-15 2019-05-02 2019-05-02 2023-01-20 79850 ENSG00000167695 OTTHUMG00000177491 uc002frp.4 AK025935 NM_024792 "CCDS10996|CCDS82031|CCDS82032" Q8TBR7 12270127 MGI:2151840 RGD:1307493 611627 HGNC:29646 "ENST00000308278.13|NM_024792.3" -HGNC:25295 TLCD3B TLC domain containing 3B protein-coding gene gene with protein product Approved 16p11.2 16p11.2 DKFZP434I2117 FAM57B "family with sequence similarity 57 member B|TLC domain ceramide synthase 3B|TLC domain 3B" TLC domain containing 1374 2005-03-15 2019-05-02 2019-06-13 2023-01-20 83723 ENSG00000149926 OTTHUMG00000132105 uc002dvt.4 AF370365 NM_031478 "CCDS81967|CCDS10667" Q71RH2 "11230166|23275342" MGI:1916202 RGD:1308215 615175 HGNC:25295 "ENST00000380495.9|NM_031478.6" HGNC:25295 +HGNC:29646 TLCD3A TLC domain containing 3A protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ22282|CT120" FAM57A family with sequence similarity 57 member A TLC domain containing 1374 2005-03-15 2019-05-02 2019-05-02 2023-01-20 79850 ENSG00000167695 OTTHUMG00000177491 uc002frp.4 AK025935 NM_024792 "CCDS10996|CCDS82032|CCDS82031" Q8TBR7 12270127 MGI:2151840 RGD:1307493 611627 HGNC:29646 "ENST00000308278.13|NM_024792.3" +HGNC:25295 TLCD3B TLC domain containing 3B protein-coding gene gene with protein product Approved 16p11.2 16p11.2 DKFZP434I2117 FAM57B "family with sequence similarity 57 member B|TLC domain ceramide synthase 3B|TLC domain 3B" TLC domain containing 1374 2005-03-15 2019-05-02 2019-06-13 2023-01-20 83723 ENSG00000149926 OTTHUMG00000132105 uc002dvt.4 AF370365 NM_031478 "CCDS10667|CCDS81967" Q71RH2 "11230166|23275342" MGI:1916202 RGD:1308215 615175 HGNC:25295 "ENST00000380495.9|NM_031478.6" HGNC:25295 HGNC:26477 TLCD4 TLC domain containing 4 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 FLJ31842 TMEM56 transmembrane protein 56 TLC domain containing 1374 2005-07-19 2019-05-02 2019-05-02 2023-01-20 148534 ENSG00000152078 OTTHUMG00000010847 uc001drb.4 NM_152487 CCDS753 Q96MV1 MGI:1923195 RGD:1563041 HGNC:26477 "ENST00000370203.9|NM_152487.3" HGNC:49388 TLCD4-RWDD3 TLCD4-RWDD3 readthrough other readthrough Approved 1p21.3 01p21.3 TMEM56-RWDD3 TMEM56-RWDD3 readthrough 2013-11-05 2019-05-02 2019-05-02 2023-03-15 100527978 ENSG00000271092 OTTHUMG00000184628 NM_001199691 HGNC:49388 -HGNC:28280 TLCD5 TLC domain containing 5 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC17839 TMEM136 transmembrane protein 136 TLC domain containing 1374 2006-03-10 2019-05-02 2019-05-02 2023-01-20 219902 ENSG00000181264 OTTHUMG00000166142 uc001pxh.2 BC015232 NM_174926 "CCDS55792|CCDS8432|CCDS55793" Q6ZRR5 28553957 MGI:2685030 RGD:1565079 HGNC:28280 "ENST00000375095.3|NM_001198671.2" +HGNC:28280 TLCD5 TLC domain containing 5 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC17839 TMEM136 transmembrane protein 136 TLC domain containing 1374 2006-03-10 2019-05-02 2019-05-02 2023-01-20 219902 ENSG00000181264 OTTHUMG00000166142 uc001pxh.2 BC015232 NM_174926 "CCDS55793|CCDS55792|CCDS8432" Q6ZRR5 28553957 MGI:2685030 RGD:1565079 HGNC:28280 "ENST00000375095.3|NM_001198671.2" HGNC:16112 TLDC2 TBC/LysM-associated domain containing 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ132F21.2 "hypothetical protein LOC140711|TLD domain containing 2" C20orf118 chromosome 20 open reading frame 118 TLDc domain containing 2055 2001-07-17 2013-03-14 2013-03-14 2023-01-20 140711 ENSG00000101342 OTTHUMG00000032400 uc002xgg.2 AL079335 NM_080628 CCDS33465 A0PJX2 MGI:2686178 RGD:1561343 HGNC:16112 "ENST00000217320.8|NM_080628.3" HGNC:11837 TLE1 TLE family member 1, transcriptional corepressor protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "ESG1|GRG1|ESG|TLE-1" enhancer of split groucho 1 "transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 1" "WD repeat domain containing|Wnt enhanceosome complex|TLE family" "362|1677|1680" 1993-12-13 2018-11-15 2023-01-20 7088 ENSG00000196781 OTTHUMG00000021008 uc004aly.4 NM_005077 CCDS6661 Q04724 "8365415|8808280" MGI:104636 RGD:1309237 600189 HGNC:11837 "ENST00000376499.8|NM_005077.5" HGNC:11837 HGNC:55701 TLE1-DT TLE1 divergent transcript non-coding RNA RNA, long non-coding Approved 9q21.32 09q21.32 Divergent transcripts 1990 2021-07-05 2021-07-05 101927502 ENSG00000233926 NR_109772 HGNC:39438 TLE1P1 TLE family member 1 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 transducin like enhancer of split 1 pseudogene 1 2011-01-04 2018-11-15 2018-11-15 645381 ENSG00000228158 OTTHUMG00000021718 NG_022665 PGOHUM00000241815 HGNC:39438 -HGNC:11838 TLE2 TLE family member 2, transcriptional corepressor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ESG2|GRG2|ESG|FLJ41188" enhancer of split groucho 2 "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 2" "WD repeat domain containing|Wnt enhanceosome complex|TLE family" "362|1677|1680" 1993-12-20 2018-11-15 2023-01-20 7089 ENSG00000065717 OTTHUMG00000180613 uc002lww.3 M99436 NM_003260 "CCDS74255|CCDS45912|CCDS45913|CCDS45911" Q04725 8808280 MGI:104635 RGD:1306665 601041 HGNC:11838 "ENST00000262953.11|NM_003260.5" -HGNC:11839 TLE3 TLE family member 3, transcriptional corepressor protein-coding gene gene with protein product Approved 15q23 15q23 "ESG|ESG3|KIAA1547|HsT18976|GRG3" "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 3" "WD repeat domain containing|Wnt enhanceosome complex|TLE family|MicroRNA protein coding host genes" "362|1677|1680|1691" 1993-12-13 2018-11-15 2023-03-15 7090 ENSG00000140332 OTTHUMG00000172121 uc002asm.4 M99438 NM_005078 "CCDS58375|CCDS61689|CCDS45293|CCDS45294|CCDS61691|CCDS61692" Q04726 8365415 MGI:104634 RGD:620292 600190 HGNC:11839 "ENST00000451782.7|NM_001105192.3" -HGNC:11840 TLE4 TLE family member 4, transcriptional corepressor protein-coding gene gene with protein product Approved 9q21.31 09q21.31 "E(spl)|ESG|GRG4" "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 4" "WD repeat domain containing|Wnt enhanceosome complex|TLE family" "362|1677|1680" 1993-12-20 2018-11-15 2023-01-20 7091 ENSG00000106829 OTTHUMG00000020072 uc004alc.5 M99439 NM_001282748 "CCDS65069|CCDS43837|CCDS94424|CCDS75851|CCDS65070" Q04727 8365415 MGI:104633 RGD:3868 605132 HGNC:11840 "ENST00000376552.8|NM_007005.6" +HGNC:11838 TLE2 TLE family member 2, transcriptional corepressor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ESG2|GRG2|ESG|FLJ41188" enhancer of split groucho 2 "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 2" "WD repeat domain containing|Wnt enhanceosome complex|TLE family" "362|1677|1680" 1993-12-20 2018-11-15 2023-01-20 7089 ENSG00000065717 OTTHUMG00000180613 uc002lww.3 M99436 NM_003260 "CCDS74255|CCDS45912|CCDS45911|CCDS45913" Q04725 8808280 MGI:104635 RGD:1306665 601041 HGNC:11838 "ENST00000262953.11|NM_003260.5" +HGNC:11839 TLE3 TLE family member 3, transcriptional corepressor protein-coding gene gene with protein product Approved 15q23 15q23 "ESG|ESG3|KIAA1547|HsT18976|GRG3" "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 3" "WD repeat domain containing|Wnt enhanceosome complex|TLE family|MicroRNA protein coding host genes" "362|1677|1680|1691" 1993-12-13 2018-11-15 2023-03-15 7090 ENSG00000140332 OTTHUMG00000172121 uc002asm.4 M99438 NM_005078 "CCDS45293|CCDS58375|CCDS61692|CCDS61691|CCDS45294|CCDS61689" Q04726 8365415 MGI:104634 RGD:620292 600190 HGNC:11839 "ENST00000451782.7|NM_001105192.3" +HGNC:11840 TLE4 TLE family member 4, transcriptional corepressor protein-coding gene gene with protein product Approved 9q21.31 09q21.31 "E(spl)|ESG|GRG4" "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 4" "WD repeat domain containing|Wnt enhanceosome complex|TLE family" "362|1677|1680" 1993-12-20 2018-11-15 2023-01-20 7091 ENSG00000106829 OTTHUMG00000020072 uc004alc.5 M99439 NM_001282748 "CCDS75851|CCDS65070|CCDS65069|CCDS94424|CCDS43837" Q04727 8365415 MGI:104633 RGD:3868 605132 HGNC:11840 "ENST00000376552.8|NM_007005.6" HGNC:307 TLE5 TLE family member 5, transcriptional modulator protein-coding gene gene with protein product Approved 19p13.3 19p13.3 GRG5 AES amino-terminal enhancer of split TLE family 1680 1993-12-13 2019-02-18 2019-02-18 2023-01-20 166 ENSG00000104964 OTTHUMG00000180567 uc002lwy.2 AK094591 NM_198969 "CCDS12102|CCDS12101" Q08117 8365415 MGI:95806 RGD:2731 600188 HGNC:307 "ENST00000327141.9|NM_001130.6" HGNC:30788 TLE6 TLE family member 6, subcortical maternal complex member protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLJ14009|GRG6" "transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 6" "WD repeat domain containing|TLE family|Subcortical maternal complex" "362|1680|1684" 2005-01-11 2018-11-15 2023-01-20 79816 ENSG00000104953 OTTHUMG00000156793 uc002lwu.3 AK024071 NM_024760 "CCDS45910|CCDS12100" Q9H808 "11486032|26537248" MGI:2149593 RGD:1561530 612399 HGNC:30788 "ENST00000246112.9|NM_001143986.2" HGNC:30788 HGNC:53648 TLE7 TLE family member 7 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 transducin like enhancer of split family member 7 "WD repeat domain containing|TLE family" "362|1680" 2017-08-11 2018-11-15 2023-01-20 102723796 ENSG00000260734 OTTHUMG00000176796 NM_001367365 CCDS92193 A0A1W2PR48 MGI:5439433 RGD:6498598 HGNC:53648 "ENST00000561754.4|NM_001367365.2" -HGNC:11841 TLK1 tousled like kinase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "KIAA0137|PKU-BETA" tousled-like kinase 1 2000-01-07 2015-11-19 2023-01-20 9874 ENSG00000198586 OTTHUMG00000132243 uc002ugn.3 AB004885 NM_012290 "CCDS2241|CCDS46448|CCDS46447" Q9UKI8 "9427565|12660173" MGI:2441683 RGD:1310370 608438 objectId:2242 HGNC:11841 "ENST00000431350.7|NM_012290.5" +HGNC:11841 TLK1 tousled like kinase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "KIAA0137|PKU-BETA" tousled-like kinase 1 2000-01-07 2015-11-19 2023-01-20 9874 ENSG00000198586 OTTHUMG00000132243 uc002ugn.3 AB004885 NM_012290 "CCDS46447|CCDS46448|CCDS2241" Q9UKI8 "9427565|12660173" MGI:2441683 RGD:1310370 608438 objectId:2242 HGNC:11841 "ENST00000431350.7|NM_012290.5" HGNC:28608 TLK1P1 tousled like kinase 1 pseudogene 1 pseudogene pseudogene Approved 9q33.2 09q33.2 TLK1ps TLK1P "tousled-like kinase 1 pseudogene|tousled-like kinase 1 pseudogene 1" 2005-05-06 2010-04-19 2015-11-19 2020-04-20 100129793 ENSG00000226783 OTTHUMG00000020623 NG_021465 PGOHUM00000236766 HGNC:28608 -HGNC:11842 TLK2 tousled like kinase 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "PKU-ALPHA|MGC44450" tousled-like kinase 2 2000-01-07 2015-11-19 2023-01-20 11011 ENSG00000146872 OTTHUMG00000179176 uc002izz.5 AB004884 NM_006852 "CCDS92374|CCDS11633|CCDS45753|CCDS62283|CCDS82182" Q86UE8 "9427565|10523312" MGI:1346023 RGD:1310907 608439 471226 objectId:2243 2.7.11.1 HGNC:11842 "ENST00000346027.10|NM_006852.6" HGNC:11842 +HGNC:11842 TLK2 tousled like kinase 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "PKU-ALPHA|MGC44450" tousled-like kinase 2 2000-01-07 2015-11-19 2023-01-20 11011 ENSG00000146872 OTTHUMG00000179176 uc002izz.5 AB004884 NM_006852 "CCDS11633|CCDS82182|CCDS62283|CCDS45753|CCDS92374" Q86UE8 "9427565|10523312" MGI:1346023 RGD:1310907 608439 471226 objectId:2243 2.7.11.1 HGNC:11842 "ENST00000346027.10|NM_006852.6" HGNC:11842 HGNC:18048 TLK2P1 tousled like kinase 2 pseudogene 1 pseudogene pseudogene Approved 17q12 17q12 TLK2ps1 tousled-like kinase 2 pseudogene 1 2005-05-06 2015-11-19 2017-10-25 646202 ENSG00000226049 OTTHUMG00000166422 NG_006102 PGOHUM00000294061 HGNC:18048 HGNC:22227 TLK2P2 tousled like kinase 2 pseudogene 2 pseudogene pseudogene Approved 10p11.21 10p11.21 TLK2ps2 tousled-like kinase 2 pseudogene 2 2005-05-06 2015-11-19 2016-08-16 553121 ENSG00000228828 OTTHUMG00000017977 NG_006100 PGOHUM00000289798 HGNC:22227 -HGNC:11843 TLL1 tolloid like 1 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 Astacins 894 1997-10-16 2015-11-13 2023-01-20 7092 ENSG00000038295 OTTHUMG00000161112 uc003irh.3 AF282732 NM_001204760 "CCDS56342|CCDS3811" O43897 10516436 MGI:106923 RGD:1306120 606742 237464 M12.016 HGNC:11843 "ENST00000061240.7|NM_012464.5" HGNC:11843 +HGNC:11843 TLL1 tolloid like 1 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 Astacins 894 1997-10-16 2015-11-13 2023-01-20 7092 ENSG00000038295 OTTHUMG00000161112 uc003irh.3 AF282732 NM_001204760 "CCDS3811|CCDS56342" O43897 10516436 MGI:106923 RGD:1306120 606742 237464 M12.016 HGNC:11843 "ENST00000061240.7|NM_012464.5" HGNC:11843 HGNC:11844 TLL2 tolloid like 2 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 Astacins 894 1997-10-16 2015-11-13 2023-01-20 7093 ENSG00000095587 OTTHUMG00000018833 uc001kml.3 AF059516 NM_012465 CCDS7449 Q9Y6L7 10516436 MGI:1346044 RGD:1559756 606743 M12.018 HGNC:11844 "ENST00000357947.4|NM_012465.4" HGNC:11845 TLN1 talin 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 ILWEQ TLN "FERM domain containing|MicroRNA protein coding host genes" "1293|1691" 1996-10-31 2023-03-20 7094 ENSG00000137076 OTTHUMG00000019874 uc003zxt.3 AB028950 NM_006289 CCDS35009 Q9Y490 "7635475|10610730|36880935" MGI:1099832 RGD:1306247 186745 471228 HGNC:11845 "ENST00000314888.10|NM_006289.4" HGNC:15447 TLN2 talin 2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "KIAA0320|ILWEQ" "FERM domain containing|MicroRNA protein coding host genes" "1293|1691" 2001-04-25 2023-01-20 83660 ENSG00000171914 OTTHUMG00000133679 uc002alb.5 AB002318 NM_001394547 CCDS32261 Q9Y4G6 "9205841|11527381" MGI:1917799 RGD:1565416 607349 HGNC:15447 "ENST00000636159.2|NM_015059.3" HGNC:15447 @@ -38851,19 +38854,19 @@ HGNC:37183 TLX1NB TLX1 neighbor non-coding RNA RNA, long non-coding Approved 10q HGNC:5057 TLX2 T cell leukemia homeobox 2 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "Enx|NCX" HOX11L1 "homeo box 11-like 1|T-cell leukemia, homeobox 2|T-cell leukemia homeobox 2" NKL subclass homeoboxes and pseudogenes 519 1998-08-04 2002-05-31 2017-12-06 2023-03-15 3196 ENSG00000115297 OTTHUMG00000129960 uc002smb.3 AJ002607 NM_016170 CCDS1947 O43763 10343123 MGI:1350935 RGD:1595506 604240 8521 HGNC:5057 "ENST00000233638.8|NM_016170.5" HGNC:13532 TLX3 T cell leukemia homeobox 3 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 RNX HOX11L2 "homeo box 11-like 2|T-cell leukemia, homeobox 3|T-cell leukemia homeobox 3" NKL subclass homeoboxes and pseudogenes 519 2001-12-17 2002-05-31 2017-12-06 2023-01-20 30012 ENSG00000164438 OTTHUMG00000163207 uc003mbf.3 AJ223798 NM_021025 CCDS34288 O43711 "11435718|11435716" MGI:1351209 RGD:1564190 TLX3 604640 8522 330918 HGNC:13532 "ENST00000296921.6|NM_021025.4" HGNC:24142 TM2D1 TM2 domain containing 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 BBP Beta-amyloid peptide binding protein 2005-05-19 2023-01-20 83941 ENSG00000162604 OTTHUMG00000008466 uc057hca.1 AF353990 NM_032027 CCDS65554 Q9BX74 11278849 MGI:2137022 RGD:1305442 610080 HGNC:24142 "ENST00000606498.5|NM_032027.3" -HGNC:24127 TM2D2 TM2 domain containing 2 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 BLP1 2005-05-19 2023-01-20 83877 ENSG00000169490 OTTHUMG00000164098 uc003xmk.4 AF353991 NM_031940 "CCDS43733|CCDS6111" Q9BX73 11278849 MGI:1916992 RGD:1306769 610081 471230 HGNC:24127 "ENST00000456397.7|NM_078473.3" -HGNC:24128 TM2D3 TM2 domain containing 3 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "BLP2|FLJ22604" almondex homolog 2005-05-19 2023-01-20 80213 ENSG00000184277 OTTHUMG00000149872 uc002bxi.4 AK094955 NM_078474 "CCDS76796|CCDS76795|CCDS10392|CCDS10393" Q9BRN9 27764101 MGI:1915884 RGD:1564929 610014 HGNC:24128 "ENST00000333202.8|NM_078474.3" -HGNC:11853 TM4SF1 transmembrane 4 L six family member 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 L6 M3S1 transmembrane 4 superfamily member 1 1993-12-08 2005-03-21 2023-01-20 4071 ENSG00000169908 OTTHUMG00000159597 uc003exb.2 M90657 NM_001410837 "CCDS3143|CCDS93404" P30408 1565644 MGI:104678 RGD:1309652 191155 HGNC:11853 "ENST00000305366.8|NM_014220.3" +HGNC:24127 TM2D2 TM2 domain containing 2 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 BLP1 2005-05-19 2023-01-20 83877 ENSG00000169490 OTTHUMG00000164098 uc003xmk.4 AF353991 NM_031940 "CCDS6111|CCDS43733" Q9BX73 11278849 MGI:1916992 RGD:1306769 610081 471230 HGNC:24127 "ENST00000456397.7|NM_078473.3" +HGNC:24128 TM2D3 TM2 domain containing 3 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "BLP2|FLJ22604" almondex homolog 2005-05-19 2023-01-20 80213 ENSG00000184277 OTTHUMG00000149872 uc002bxi.4 AK094955 NM_078474 "CCDS10393|CCDS76795|CCDS76796|CCDS10392" Q9BRN9 27764101 MGI:1915884 RGD:1564929 610014 HGNC:24128 "ENST00000333202.8|NM_078474.3" +HGNC:11853 TM4SF1 transmembrane 4 L six family member 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 L6 M3S1 transmembrane 4 superfamily member 1 1993-12-08 2005-03-21 2023-01-20 4071 ENSG00000169908 OTTHUMG00000159597 uc003exb.2 M90657 NM_001410837 "CCDS93404|CCDS3143" P30408 1565644 MGI:104678 RGD:1309652 191155 HGNC:11853 "ENST00000305366.8|NM_014220.3" HGNC:40587 TM4SF1-AS1 TM4SF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 TM4SF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2016-12-13 100874091 ENSG00000240541 OTTHUMG00000159596 uc032sfs.2 NR_046650 TM4SF1-AS1 HGNC:40587 HGNC:11856 TM4SF4 transmembrane 4 L six family member 4 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 il-TMP transmembrane 4 superfamily member 4 1997-10-16 2005-03-21 2023-01-20 7104 ENSG00000169903 OTTHUMG00000159619 uc003exd.3 NM_004617 CCDS46932 P48230 7665614 MGI:2385173 RGD:621784 606567 HGNC:11856 "ENST00000305354.5|NM_004617.4" HGNC:11857 TM4SF5 transmembrane 4 L six family member 5 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 transmembrane 4 superfamily member 5 1999-01-21 2005-03-21 2023-01-20 9032 ENSG00000142484 OTTHUMG00000090776 uc002fyw.1 AF027204 NM_003963 CCDS11054 O14894 "9479038|26404468" MGI:1922854 RGD:1308709 604657 HGNC:11857 "ENST00000270560.4|NM_003963.3" HGNC:25181 TM4SF18 transmembrane 4 L six family member 18 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 L6D 2005-03-21 2023-01-20 116441 ENSG00000163762 OTTHUMG00000159582 uc003exa.3 BC014339 NM_138786 CCDS3142 Q96CE8 10975581 HGNC:25181 "ENST00000296059.7|NM_138786.4" -HGNC:56678 TM4SF18-AS1 TM4SF18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 AC093001.1 Antisense RNAs 1987 2022-12-23 2022-12-23 128193290 ENSG00000244468 36338996 -HGNC:25167 TM4SF19 transmembrane 4 L six family member 19 protein-coding gene gene with protein product Approved 3q29 03q29 2005-03-21 2023-01-20 116211 ENSG00000145107 OTTHUMG00000155675 uc003fwl.3 BC013113 NM_138461 "CCDS56299|CCDS3316" Q96DZ7 33059922 MGI:3645933 RGD:1560486 HGNC:25167 "ENST00000273695.4|NM_138461.4" +HGNC:56678 TM4SF18-AS1 TM4SF18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 AC093001.1 Antisense RNAs 1987 2022-12-23 2022-12-23 128193290 ENSG00000244468 NR_186251 36338996 +HGNC:25167 TM4SF19 transmembrane 4 L six family member 19 protein-coding gene gene with protein product Approved 3q29 03q29 2005-03-21 2023-01-20 116211 ENSG00000145107 OTTHUMG00000155675 uc003fwl.3 BC013113 NM_138461 "CCDS3316|CCDS56299" Q96DZ7 33059922 MGI:3645933 RGD:1560486 HGNC:25167 "ENST00000273695.4|NM_138461.4" HGNC:41085 TM4SF19-AS1 TM4SF19 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 TM4SF19 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2022-10-13 100874214 ENSG00000235897 OTTHUMG00000155669 uc003fwk.2 NR_046724 35987447 TM4SF19-AS1 HGNC:41085 HGNC:49190 TM4SF19-DYNLT2B TM4SF19-DYNLT2B readthrough (NMD candidate) other readthrough Approved 3q29 03q29 TM4SF19-TCTEX1D2 TM4SF19-TCTEX1D2 readthrough (NMD candidate) 2013-09-25 2020-08-27 2020-08-27 2020-08-27 100534611 ENSG00000273331 OTTHUMG00000186464 NR_037950 HGNC:49190 HGNC:26230 TM4SF20 transmembrane 4 L six family member 20 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "FLJ22800|TCCE518" 2005-03-21 2023-01-20 79853 ENSG00000168955 OTTHUMG00000133187 uc002vpb.3 AK026453 NM_024795 CCDS2466 Q53R12 12975309 MGI:1913511 RGD:1588633 615404 HGNC:26230 "ENST00000304568.4|NM_024795.4" HGNC:26230 -HGNC:11860 TM6SF1 transmembrane 6 superfamily member 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 2000-05-02 2023-01-20 53346 ENSG00000136404 OTTHUMG00000147365 uc002bjp.4 AF255922 NM_023003 "CCDS45338|CCDS10323|CCDS81915" Q9BZW5 11124529 MGI:1933209 RGD:1307978 606562 HGNC:11860 "ENST00000322019.14|NM_023003.5" +HGNC:11860 TM6SF1 transmembrane 6 superfamily member 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 2000-05-02 2023-01-20 53346 ENSG00000136404 OTTHUMG00000147365 uc002bjp.4 AF255922 NM_023003 "CCDS10323|CCDS81915|CCDS45338" Q9BZW5 11124529 MGI:1933209 RGD:1307978 606562 HGNC:11860 "ENST00000322019.14|NM_023003.5" HGNC:11861 TM6SF2 transmembrane 6 superfamily member 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 Lpr4 2000-05-02 2023-01-20 53345 ENSG00000213996 OTTHUMG00000182222 uc002nmd.2 AF255923 NM_203510 CCDS42528 Q9BZW4 11124529 MGI:1933210 RGD:1597457 606563 HGNC:11861 "ENST00000389363.5|NM_001001524.3" HGNC:11863 TM7SF2 transmembrane 7 superfamily member 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ANG1|DHCR14A|NET47" delta(14)-sterol reductase 1997-11-05 2023-01-20 7108 ENSG00000149809 OTTHUMG00000165603 uc001oct.5 BC012857 NM_003273 "CCDS60846|CCDS41669" O76062 "9615229|9286704" MGI:1920416 RGD:1311205 603414 1.3.1.70 HGNC:11863 "ENST00000279263.14|NM_003273.6" HGNC:23049 TM7SF3 transmembrane 7 superfamily member 3 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 2003-08-27 2023-01-20 51768 ENSG00000064115 OTTHUMG00000169243 uc010sjl.4 AB032470 NM_016551 CCDS8710 Q9NS93 10828615 MGI:1914873 RGD:1306752 605181 HGNC:23049 "ENST00000343028.9|NM_016551.3" @@ -38878,40 +38881,40 @@ HGNC:25638 TMA16 translation machinery associated 16 homolog protein-coding gene HGNC:43780 TMA16P1 translation machinery associated 16 homolog pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 2012-03-02 2012-03-02 100101405 ENSG00000255265 OTTHUMG00000167431 NG_006426 PGOHUM00000242305 HGNC:43780 HGNC:43781 TMA16P2 translation machinery associated 16 homolog pseudogene 2 pseudogene pseudogene Approved 1p34.1 01p34.1 2012-03-02 2012-03-02 100101407 ENSG00000232467 OTTHUMG00000008005 NG_006427 PGOHUM00000244004 HGNC:43781 HGNC:23410 TMBIM1 transmembrane BAX inhibitor motif containing 1 protein-coding gene gene with protein product Approved 2q35 02q35 "PP1201|RECS1|LFG3" Transmembrane BAX inhibitor motif containing 1215 2005-08-22 2023-01-20 64114 ENSG00000135926 OTTHUMG00000133105 uc002vhp.2 BN000408 NM_022152 CCDS2412 Q969X1 28481357 MGI:1916910 RGD:1359409 610364 HGNC:23410 "ENST00000258412.8|NM_022152.6" -HGNC:24257 TMBIM4 transmembrane BAX inhibitor motif containing 4 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "CGI-119|S1R|ZPRO|LFG4|GAAP" Transmembrane BAX inhibitor motif containing 1215 2005-08-22 2023-03-15 51643 ENSG00000155957 OTTHUMG00000168973 uc001stc.5 AF113127 NM_016056 "CCDS41805|CCDS61187|CCDS81710" Q9HC24 "11042152|10810093" MGI:1915462 RGD:735173 616874 HGNC:24257 "ENST00000358230.8|NM_016056.4" -HGNC:11723 TMBIM6 transmembrane BAX inhibitor motif containing 6 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "BI-1|BAXI1" BAX inhibitor 1 TEGT testis enhanced gene transcript Transmembrane BAX inhibitor motif containing 1215 1994-08-30 2008-09-17 2008-09-17 2023-01-20 7009 ENSG00000139644 OTTHUMG00000169652 uc001rux.3 X75861 NM_003217 "CCDS44875|CCDS31797" P55061 "8530040|9660918" MGI:99682 RGD:3842 600748 HGNC:11723 "ENST00000267115.10|NM_003217.3" +HGNC:24257 TMBIM4 transmembrane BAX inhibitor motif containing 4 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "CGI-119|S1R|ZPRO|LFG4|GAAP" Transmembrane BAX inhibitor motif containing 1215 2005-08-22 2023-03-15 51643 ENSG00000155957 OTTHUMG00000168973 uc001stc.5 AF113127 NM_016056 "CCDS81710|CCDS41805|CCDS61187" Q9HC24 "11042152|10810093" MGI:1915462 RGD:735173 616874 HGNC:24257 "ENST00000358230.8|NM_016056.4" +HGNC:11723 TMBIM6 transmembrane BAX inhibitor motif containing 6 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "BI-1|BAXI1" BAX inhibitor 1 TEGT testis enhanced gene transcript Transmembrane BAX inhibitor motif containing 1215 1994-08-30 2008-09-17 2008-09-17 2023-01-20 7009 ENSG00000139644 OTTHUMG00000169652 uc001rux.3 X75861 NM_003217 "CCDS31797|CCDS44875" P55061 "8530040|9660918" MGI:99682 RGD:3842 600748 HGNC:11723 "ENST00000267115.10|NM_003217.3" HGNC:49212 TMBIM7P transmembrane BAX inhibitor motif containing 7, pseudogene pseudogene pseudogene Approved 7q21.2 07q21.2 Transmembrane BAX inhibitor motif containing 1215 2013-10-09 2020-04-20 105375396 ENSG00000230927 OTTHUMG00000155903 NR_145992 MGI:1922305 RGD:1306626 HGNC:49212 HGNC:16513 TMC1 transmembrane channel like 1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "DFNA36|DFNB7|DFNB11" transmembrane, cochlear expressed, 1 Transmembrane channel like family 1135 2001-10-08 2015-11-12 2023-01-20 117531 ENSG00000165091 OTTHUMG00000020014 uc004aiz.1 AF417578 NM_138691 CCDS6643 Q8TDI8 "11850618|11850623" MGI:2151016 RGD:1308682 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=TMC1" 606706 120130 HGNC:16513 "ENST00000297784.10|NM_138691.3" HGNC:16513 HGNC:16527 TMC2 transmembrane channel like 2 protein-coding gene gene with protein product Approved 20p13 20p13 dJ686C3.3 C20orf145 transmembrane, cochlear expressed, 2 Transmembrane channel like family 1135 2001-10-08 2015-11-12 2023-01-20 117532 ENSG00000149488 OTTHUMG00000031698 uc002wgf.1 AF417580 NM_080751 CCDS13029 Q8TDI7 "11850618|12906855" MGI:2151017 RGD:1310073 606707 HGNC:16527 "ENST00000358864.2|NM_080751.3" HGNC:22995 TMC3 transmembrane channel like 3 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 Transmembrane channel like family 1135 2003-08-14 2015-11-12 2023-01-20 342125 ENSG00000188869 OTTHUMG00000172314 uc059mlt.1 AY263163 NM_181841 CCDS45324 Q7Z5M5 "12906855|12812529" MGI:2669033 RGD:1308063 617196 HGNC:22995 "ENST00000359440.6|NM_001080532.3" HGNC:51424 TMC3-AS1 TMC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 Antisense RNAs 1987 2014-11-21 2014-11-21 101929655 ENSG00000259343 OTTHUMG00000172313 "HY112626|CB134362" NR_120365 TMC3-AS1 HGNC:51424 HGNC:22998 TMC4 transmembrane channel like 4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Transmembrane channel like family 1135 2003-08-14 2015-11-12 2023-01-20 147798 ENSG00000167608 OTTHUMG00000066485 uc032icl.2 AY236492 NM_001145303 "CCDS12882|CCDS46174" Q7Z404 "12812529|12906855" MGI:2669035 RGD:1304811 617181 HGNC:22998 "ENST00000619895.5|NM_144686.4" -HGNC:22999 TMC5 transmembrane channel like 5 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 FLJ13593 Transmembrane channel like family 1135 2003-08-14 2015-11-12 2023-01-20 79838 ENSG00000103534 OTTHUMG00000131458 uc002dge.5 AY263164 NM_024780 "CCDS45431|CCDS76837|CCDS10577|CCDS42126" Q6UXY8 "12812529|12906855" MGI:1921674 RGD:1307037 617197 HGNC:22999 "ENST00000542583.7|NM_001261841.2" +HGNC:22999 TMC5 transmembrane channel like 5 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 FLJ13593 Transmembrane channel like family 1135 2003-08-14 2015-11-12 2023-01-20 79838 ENSG00000103534 OTTHUMG00000131458 uc002dge.5 AY263164 NM_024780 "CCDS10577|CCDS76837|CCDS45431|CCDS42126" Q6UXY8 "12812529|12906855" MGI:1921674 RGD:1307037 617197 HGNC:22999 "ENST00000542583.7|NM_001261841.2" HGNC:18021 TMC6 transmembrane channel like 6 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "LAK-4P|EVIN1" "EVER1|TNRC6C-AS1" "epidermodysplasia verruciformis 1|TNRC6C antisense RNA 1" Transmembrane channel like family 1135 2003-02-17 2005-11-10 2015-11-12 2023-01-20 11322 ENSG00000141524 OTTHUMG00000177466 uc002jul.2 AY057379 NM_001127198 "CCDS32748|CCDS92404" Q7Z403 12426567 MGI:1098686 RGD:1591146 "TMC6base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER1base)|http://structure.bmc.lu.se/idbase/TMC6base/|LRG_118|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_118.xml" 605828 159303 HGNC:18021 "ENST00000590602.6|NM_001127198.5" HGNC:18021 -HGNC:23000 TMC7 transmembrane channel like 7 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 FLJ21240 Transmembrane channel like family 1135 2003-08-14 2015-11-12 2023-01-20 79905 ENSG00000170537 OTTHUMG00000131456 uc002dfq.4 AY263165 NM_024847 "CCDS10573|CCDS53992|CCDS73837" Q7Z402 "12812529|12906855" MGI:2443317 RGD:1564267 617198 HGNC:23000 "ENST00000304381.10|NM_024847.4" +HGNC:23000 TMC7 transmembrane channel like 7 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 FLJ21240 Transmembrane channel like family 1135 2003-08-14 2015-11-12 2023-01-20 79905 ENSG00000170537 OTTHUMG00000131456 uc002dfq.4 AY263165 NM_024847 "CCDS73837|CCDS10573|CCDS53992" Q7Z402 "12812529|12906855" MGI:2443317 RGD:1564267 617198 HGNC:23000 "ENST00000304381.10|NM_024847.4" HGNC:20474 TMC8 transmembrane channel like 8 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 EVIN2 EVER2 epidermodysplasia verruciformis 2 Transmembrane channel like family 1135 2003-02-17 2005-11-10 2015-11-12 2023-01-20 147138 ENSG00000167895 OTTHUMG00000177436 uc002jup.3 AY057380 NM_152468 CCDS32749 Q8IU68 12426567 MGI:2669037 RGD:1591150 "TMC8base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER2base)|http://structure.bmc.lu.se/idbase/TMC8base/|LRG_119|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_119.xml" 605829 159387 HGNC:20474 "ENST00000318430.10|NM_152468.5" HGNC:20474 -HGNC:29116 TMCC1 transmembrane and coiled-coil domain family 1 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 KIAA0779 transmembrane and coiled-coil domains 1 Transmembrane and coiled-coil domain containing 774 2005-01-21 2005-07-13 2023-03-15 23023 ENSG00000172765 OTTHUMG00000159579 uc021xdy.2 AB018322 NM_015008 "CCDS93383|CCDS33855|CCDS93382" O94876 9872452 MGI:2442368 RGD:1311909 616242 HGNC:29116 "ENST00000393238.8|NM_001017395.5" +HGNC:29116 TMCC1 transmembrane and coiled-coil domain family 1 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 KIAA0779 transmembrane and coiled-coil domains 1 Transmembrane and coiled-coil domain containing 774 2005-01-21 2005-07-13 2023-03-15 23023 ENSG00000172765 OTTHUMG00000159579 uc021xdy.2 AB018322 NM_015008 "CCDS33855|CCDS93382|CCDS93383" O94876 9872452 MGI:2442368 RGD:1311909 616242 HGNC:29116 "ENST00000393238.8|NM_001017395.5" HGNC:49060 TMCC1-DT TMCC1 divergent transcript non-coding RNA RNA, long non-coding Approved 3q22.1 03q22.1 TMCC1-AS1 TMCC1 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-08-20 2020-09-25 2020-09-25 2020-09-25 100507032 ENSG00000271270 OTTHUMG00000185164 NR_037893 TMCC1-AS1 HGNC:49060 HGNC:31901 TMCC1P1 transmembrane and coiled-coil domain family 1 pseudogene 1 pseudogene pseudogene Approved 8q23.1 08q23.1 TMCC1P "transmembrane and coiled-coil domains 1 pseudogene|transmembrane and coiled-coil domain family 1 pseudogene" 2005-01-21 2010-04-19 2010-04-19 2014-11-18 100128132 ENSG00000253318 OTTHUMG00000164817 NG_016605 PGOHUM00000249471 HGNC:31901 -HGNC:24239 TMCC2 transmembrane and coiled-coil domain family 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "HUCEP11|FLJ38497" transmembrane and coiled-coil domains 2 Transmembrane and coiled-coil domain containing 774 2005-01-21 2005-07-13 2023-01-20 9911 ENSG00000133069 OTTHUMG00000037195 uc021pia.2 AB001596 NM_014858 "CCDS73010|CCDS81418|CCDS76257|CCDS30984|CCDS55676" O75069 9455484 MGI:1916125 RGD:1311960 619429 HGNC:24239 "ENST00000358024.8|NM_014858.4" +HGNC:24239 TMCC2 transmembrane and coiled-coil domain family 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "HUCEP11|FLJ38497" transmembrane and coiled-coil domains 2 Transmembrane and coiled-coil domain containing 774 2005-01-21 2005-07-13 2023-01-20 9911 ENSG00000133069 OTTHUMG00000037195 uc021pia.2 AB001596 NM_014858 "CCDS73010|CCDS55676|CCDS76257|CCDS81418|CCDS30984" O75069 9455484 MGI:1916125 RGD:1311960 619429 HGNC:24239 "ENST00000358024.8|NM_014858.4" HGNC:41042 TMCC2-AS1 TMCC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2020-03-30 2020-03-30 101929459 ENSG00000225063 OTTHUMG00000040690 NR_183258 HGNC:29199 TMCC3 transmembrane and coiled-coil domain family 3 protein-coding gene gene with protein product Approved 12q22 12q22 KIAA1145 transmembrane and coiled-coil domains 3 "Transmembrane and coiled-coil domain containing|MicroRNA protein coding host genes" "774|1691" 2005-01-21 2005-07-13 2023-01-20 57458 ENSG00000057704 OTTHUMG00000170225 uc001tdj.3 AB032971 NM_020698 "CCDS31877|CCDS73506" Q9ULS5 10574461 MGI:2442900 RGD:1307241 617459 HGNC:29199 "ENST00000261226.9|NM_020698.4" HGNC:18188 TMCO1 transmembrane and coiled-coil domains 1 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 HP10122 Ca(2+) load-activated Ca(2+) channel TMCC4 transmembrane and coiled-coil domains 4 2005-05-19 2005-07-13 2005-07-13 2023-01-20 54499 ENSG00000143183 OTTHUMG00000034672 uc057mzb.1 AB020980 NM_019026 CCDS1251 Q9UM00 "8619474|9110174|27212239" MGI:1921173 RGD:1359178 614123 232228 HGNC:18188 "ENST00000367881.11|NM_019026.6" HGNC:18188 HGNC:54046 TMCO1-AS1 TMCO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q24.1 01q24.1 Antisense RNAs 1987 2018-09-26 2018-09-26 100147773 ENSG00000224358 OTTHUMG00000034703 NR_125374 HGNC:54046 HGNC:23312 TMCO2 transmembrane and coiled-coil domains 2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 dJ39G22.2 2005-07-13 2023-01-20 127391 ENSG00000188800 OTTHUMG00000005764 uc001cfe.3 AL050341 NM_001008740 CCDS30684 Q7Z6W1 MGI:1916719 RGD:2321463 HGNC:23312 "ENST00000372766.4|NM_001008740.4" -HGNC:20329 TMCO3 transmembrane and coiled-coil domains 3 protein-coding gene gene with protein product Approved 13q34 13q34 FLJ20623 C13orf11 chromosome 13 open reading frame 11 2003-01-29 2005-07-22 2005-07-22 2023-01-20 55002 ENSG00000150403 OTTHUMG00000017389 uc001vtu.5 BC012564 NM_017905 "CCDS9537|CCDS86365" Q6UWJ1 MGI:2444946 RGD:1306586 617134 HGNC:20329 "ENST00000434316.7|NM_017905.6" HGNC:20329 +HGNC:20329 TMCO3 transmembrane and coiled-coil domains 3 protein-coding gene gene with protein product Approved 13q34 13q34 FLJ20623 C13orf11 chromosome 13 open reading frame 11 2003-01-29 2005-07-22 2005-07-22 2023-01-20 55002 ENSG00000150403 OTTHUMG00000017389 uc001vtu.5 BC012564 NM_017905 "CCDS86365|CCDS9537" Q6UWJ1 MGI:2444946 RGD:1306586 617134 HGNC:20329 "ENST00000434316.7|NM_017905.6" HGNC:20329 HGNC:27393 TMCO4 transmembrane and coiled-coil domains 4 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 DKFZp686C23231 2005-08-09 2023-01-20 255104 ENSG00000162542 OTTHUMG00000002697 uc001bcn.3 NM_181719 CCDS198 Q5TGY1 MGI:1924306 RGD:1566357 HGNC:27393 "ENST00000294543.11|NM_181719.7" -HGNC:28558 TMCO5A transmembrane and coiled-coil domains 5A protein-coding gene gene with protein product Approved 15q14 15q14 MGC35118 TMCO5 transmembrane and coiled-coil domains 5 2005-10-25 2008-06-10 2008-06-10 2023-01-20 145942 ENSG00000166069 OTTHUMG00000129787 uc001zjw.4 BC029221 NM_152453 "CCDS81862|CCDS10046" Q8N6Q1 30632224 MGI:1914606 RGD:1565206 HGNC:28558 "ENST00000319669.5|NM_152453.4" +HGNC:28558 TMCO5A transmembrane and coiled-coil domains 5A protein-coding gene gene with protein product Approved 15q14 15q14 MGC35118 TMCO5 transmembrane and coiled-coil domains 5 2005-10-25 2008-06-10 2008-06-10 2023-01-20 145942 ENSG00000166069 OTTHUMG00000129787 uc001zjw.4 BC029221 NM_152453 "CCDS10046|CCDS81862" Q8N6Q1 30632224 MGI:1914606 RGD:1565206 HGNC:28558 "ENST00000319669.5|NM_152453.4" HGNC:34243 TMCO5B transmembrane and coiled-coil domains 5B (pseudogene) pseudogene pseudogene Approved 15q13.3 15q13.3 transmembrane and coiled-coil domains 5B 2008-06-10 2016-01-06 2020-04-20 100652857 ENSG00000215296 OTTHUMG00000167569 NR_046005 A8MYB1 MGI:1922525 RGD:1561237 HGNC:34243 -HGNC:28814 TMCO6 transmembrane and coiled-coil domains 6 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "FLJ39769|PRO1580" Armadillo like helical domain containing 1492 2006-08-21 2023-01-20 55374 ENSG00000113119 OTTHUMG00000129497 uc003lgl.4 BC001910 NM_018502 "CCDS4233|CCDS75320" Q96DC7 12477932 MGI:1919233 RGD:1309263 HGNC:28814 "ENST00000394671.8|NM_018502.5" +HGNC:28814 TMCO6 transmembrane and coiled-coil domains 6 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "FLJ39769|PRO1580" Armadillo like helical domain containing 1492 2006-08-21 2023-01-20 55374 ENSG00000113119 OTTHUMG00000129497 uc003lgl.4 BC001910 NM_018502 "CCDS75320|CCDS4233" Q96DC7 12477932 MGI:1919233 RGD:1309263 HGNC:28814 "ENST00000394671.8|NM_018502.5" HGNC:53646 TMDD1 transmembrane and death domain 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 hCG1648055 C12orf81 chromosome 12 open reading frame 81 2017-08-11 2019-07-17 2019-07-17 2019-07-17 112163659 ENSG00000284730 OTTHUMG00000192217 NM_001386737 P0DPE3 MGI:6097044 RGD:41006567 "ENST00000642069.2|NM_001386737.1" HGNC:17291 TMED1 transmembrane p24 trafficking protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "ST2L|MGC1270|IL1RL1LG|Il1rl1l|p24gamma1|p24g1" "transmembrane emp24 domain containing 1|transmembrane emp24 protein transport domain containing 1" Transmembrane p24 trafficking proteins 1064 2005-01-07 2015-08-11 2023-01-20 11018 ENSG00000099203 OTTHUMG00000180696 uc002mpy.5 U41804 NM_006858 CCDS12249 Q13445 "11466339|8621446" MGI:106201 RGD:1311679 605395 HGNC:17291 "ENST00000214869.7|NM_006858.4" HGNC:16996 TMED2 transmembrane p24 trafficking protein 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "RNP24|P24A|p24beta1|p24b1" transmembrane emp24 domain trafficking protein 2 Transmembrane p24 trafficking proteins 1064 2005-08-26 2015-08-11 2023-01-20 10959 ENSG00000086598 OTTHUMG00000168694 uc001ufg.4 X92098 NM_006815 CCDS9250 Q15363 8663407 MGI:1929269 RGD:69243 619642 HGNC:16996 "ENST00000262225.8|NM_006815.4" HGNC:53346 TMED2-DT TMED2 divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Divergent transcripts 1990 2019-05-15 2019-05-15 101927415 ENSG00000247373 OTTHUMG00000168693 NR_110049 HGNC:53346 HGNC:56425 TMED2P1 TMED2 pseudogene 1 pseudogene pseudogene Approved 3p14.2 03p14.2 2022-10-19 2022-10-19 100421730 ENSG00000225673 NG_025585 PGOHUM00000299045 -HGNC:28889 TMED3 transmembrane p24 trafficking protein 3 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "p24B|p24gamma4|p24g4" C15orf22 "chromosome 15 open reading frame 22|transmembrane emp24 domain containing 3|transmembrane emp24 protein transport domain containing 3" Transmembrane p24 trafficking proteins 1064 2004-06-25 2005-01-07 2015-08-11 2023-01-20 23423 ENSG00000166557 OTTHUMG00000144170 uc002beu.4 BC022232 NM_007364 "CCDS73768|CCDS81914|CCDS86480|CCDS10310" Q9Y3Q3 12975309 MGI:1913361 RGD:1303327 HGNC:28889 "ENST00000299705.10|NM_007364.4" -HGNC:22301 TMED4 transmembrane p24 trafficking protein 4 protein-coding gene gene with protein product Approved 7p13 07p13 "HNLF|p24alpha3|p24a3" transmembrane emp24 protein transport domain containing 4 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2023-01-20 222068 ENSG00000158604 OTTHUMG00000129210 uc003tli.4 BC035467 NM_182547 "CCDS78227|CCDS78226|CCDS5493" Q7Z7H5 12761501 MGI:1915070 RGD:1306319 612038 HGNC:22301 "ENST00000457408.7|NM_182547.4" -HGNC:24251 TMED5 transmembrane p24 trafficking protein 5 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "CGI-100|p24g2|p24gamma2" transmembrane emp24 protein transport domain containing 5 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2023-01-20 50999 ENSG00000117500 OTTHUMG00000010162 uc001dpn.4 BC070051 NM_016040 "CCDS91003|CCDS53342|CCDS743" Q9Y3A6 10810093 MGI:1921586 RGD:1359437 616876 HGNC:24251 "ENST00000370282.8|NM_016040.5" +HGNC:28889 TMED3 transmembrane p24 trafficking protein 3 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "p24B|p24gamma4|p24g4" C15orf22 "chromosome 15 open reading frame 22|transmembrane emp24 domain containing 3|transmembrane emp24 protein transport domain containing 3" Transmembrane p24 trafficking proteins 1064 2004-06-25 2005-01-07 2015-08-11 2023-01-20 23423 ENSG00000166557 OTTHUMG00000144170 uc002beu.4 BC022232 NM_007364 "CCDS81914|CCDS10310|CCDS73768|CCDS86480" Q9Y3Q3 12975309 MGI:1913361 RGD:1303327 HGNC:28889 "ENST00000299705.10|NM_007364.4" +HGNC:22301 TMED4 transmembrane p24 trafficking protein 4 protein-coding gene gene with protein product Approved 7p13 07p13 "HNLF|p24alpha3|p24a3" transmembrane emp24 protein transport domain containing 4 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2023-01-20 222068 ENSG00000158604 OTTHUMG00000129210 uc003tli.4 BC035467 NM_182547 "CCDS78226|CCDS5493|CCDS78227" Q7Z7H5 12761501 MGI:1915070 RGD:1306319 612038 HGNC:22301 "ENST00000457408.7|NM_182547.4" +HGNC:24251 TMED5 transmembrane p24 trafficking protein 5 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "CGI-100|p24g2|p24gamma2" transmembrane emp24 protein transport domain containing 5 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2023-01-20 50999 ENSG00000117500 OTTHUMG00000010162 uc001dpn.4 BC070051 NM_016040 "CCDS743|CCDS91003|CCDS53342" Q9Y3A6 10810093 MGI:1921586 RGD:1359437 616876 HGNC:24251 "ENST00000370282.8|NM_016040.5" HGNC:28331 TMED6 transmembrane p24 trafficking protein 6 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "MGC23911|p24gamma5|p24g5" transmembrane emp24 protein transport domain containing 6 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2023-01-20 146456 ENSG00000157315 OTTHUMG00000137571 uc002exc.3 BC020827 NM_144676 CCDS10878 Q8WW62 22129529 MGI:1913519 RGD:1305260 HGNC:28331 "ENST00000288025.4|NM_144676.4" HGNC:24253 TMED7 transmembrane p24 trafficking protein 7 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "CGI-109|FLJ90481|p24gamma3|p24g3" transmembrane emp24 protein transport domain containing 7 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2023-01-20 51014 ENSG00000134970 OTTHUMG00000132013 uc003krf.4 AK074962 NM_181836 CCDS4120 Q9Y3B3 10810093 MGI:1913926 RGD:727954 619990 HGNC:24253 "ENST00000456936.4|NM_181836.6" HGNC:24253 HGNC:33945 TMED7-TICAM2 TMED7-TICAM2 readthrough other readthrough Approved 5q22.3 05q22.3 2009-11-05 2009-11-05 2023-03-15 100302736 ENSG00000251201 OTTHUMG00000162911 uc003kre.4 NM_001164468 MGI:1913926 HGNC:33945 @@ -38922,24 +38925,24 @@ HGNC:30754 TMED10P1 transmembrane p24 trafficking protein 10 pseudogene 1 pseudo HGNC:38105 TMED10P2 transmembrane p24 trafficking protein 10 pseudogene 2 pseudogene pseudogene Approved 3q21.3 03q21.3 transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 2 2010-04-19 2016-01-28 2016-10-05 100129727 ENSG00000239405 OTTHUMG00000159692 NG_023009 PGOHUM00000238175 HGNC:38105 HGNC:35401 TMED11P transmembrane p24 trafficking protein 11, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 "p24alpha1|p24a1" transmembrane emp24 protein transport domain containing 11, pseudogene Transmembrane p24 trafficking proteins 1064 2009-01-06 2015-08-11 2015-08-11 100379220 ENSG00000215367 OTTHUMG00000154635 NR_033768 MGI:1914616 HGNC:35401 HGNC:11866 TMEFF1 transmembrane protein with EGF like and two follistatin like domains 1 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "H7365|CT120.1" "tomoregulin-1|cancer/testis antigen family 120, member 1" C9orf2 transmembrane protein with EGF-like and two follistatin-like domains 1 1998-08-06 2016-01-21 2023-01-20 8577 ENSG00000241697 OTTHUMG00000020367 uc004baz.3 U19878 NM_003692 CCDS6750 Q8IYR6 9730596 MGI:1926810 RGD:62005 603421 HGNC:11866 "ENST00000374879.5|NM_003692.5" -HGNC:11867 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "TENB2|HPP1|TR|TPEF|CT120.2" "transmembrane protein TENB2|tomoregulin|cancer/testis antigen family 120, member 2" transmembrane protein with EGF-like and two follistatin-like domains 2 1998-10-02 2016-01-21 2023-01-20 23671 ENSG00000144339 OTTHUMG00000132723 uc002utc.4 AB017269 NM_016192 "CCDS82547|CCDS82548|CCDS2314" Q9UIK5 10903839 MGI:1861735 RGD:1308839 605734 HGNC:11867 "ENST00000272771.10|NM_016192.4" +HGNC:11867 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "TENB2|HPP1|TR|TPEF|CT120.2" "transmembrane protein TENB2|tomoregulin|cancer/testis antigen family 120, member 2" transmembrane protein with EGF-like and two follistatin-like domains 2 1998-10-02 2016-01-21 2023-01-20 23671 ENSG00000144339 OTTHUMG00000132723 uc002utc.4 AB017269 NM_016192 "CCDS2314|CCDS82547|CCDS82548" Q9UIK5 10903839 MGI:1861735 RGD:1308839 605734 HGNC:11867 "ENST00000272771.10|NM_016192.4" HGNC:21427 TMEM8B transmembrane protein 8B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "NAG-5|NGX6|NGX6a|FP588" nasopharyngeal carcinoma expressed 6 "C9orf127|LINC00950" "chromosome 9 open reading frame 127|long intergenic non-protein coding RNA 950" TMEM8 family 1957 2004-04-16 2009-06-12 2009-06-12 2023-01-20 51754 ENSG00000137103 OTTHUMG00000019885 uc003zym.5 BC043384 NM_016446 "CCDS6595|CCDS43800|CCDS94406" A6NDV4 "12918109|8619474" MGI:2441680 RGD:1310012 616888 HGNC:21427 "ENST00000643932.2|NM_001042590.4" -HGNC:18823 TMEM9 transmembrane protein 9 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 TMEM9A 2002-07-12 2023-01-20 252839 ENSG00000116857 OTTHUMG00000035831 uc001gwa.5 NM_016456 "CCDS73001|CCDS1408" Q9P0T7 "18541524|30119033|30374053" MGI:1913491 RGD:1307922 616877 HGNC:18823 "ENST00000367330.6|NM_001288565.2" -HGNC:1168 TMEM9B TMEM9 domain family member B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 C11orf15 "chromosome 11 open reading frame 15|TMEM9 domain family, member B" 2000-07-31 2005-10-06 2015-11-18 2023-03-27 56674 ENSG00000175348 OTTHUMG00000165676 uc001mhe.3 AJ400877 NM_001286094 "CCDS66021|CCDS7796" Q9NQ34 "11528127|18541524" MGI:1915254 RGD:1310775 620293 HGNC:1168 "ENST00000534025.6|NM_020644.3" +HGNC:18823 TMEM9 transmembrane protein 9 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 TMEM9A 2002-07-12 2023-01-20 252839 ENSG00000116857 OTTHUMG00000035831 uc001gwa.5 NM_016456 "CCDS1408|CCDS73001" Q9P0T7 "18541524|30119033|30374053" MGI:1913491 RGD:1307922 616877 HGNC:18823 "ENST00000367330.6|NM_001288565.2" +HGNC:1168 TMEM9B TMEM9 domain family member B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 C11orf15 "chromosome 11 open reading frame 15|TMEM9 domain family, member B" 2000-07-31 2005-10-06 2015-11-18 2023-03-27 56674 ENSG00000175348 OTTHUMG00000165676 uc001mhe.3 AJ400877 NM_001286094 "CCDS7796|CCDS66021" Q9NQ34 "11528127|18541524" MGI:1915254 RGD:1310775 620293 HGNC:1168 "ENST00000534025.6|NM_020644.3" HGNC:19230 TMEM9B-AS1 TMEM9B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 C11orf18 "chromosome 11 open reading frame 18|TMEM9B antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-11-30 2011-11-25 2012-08-15 2021-03-17 493900 ENSG00000254860 OTTHUMG00000165677 uc031pyy.1 AJ400877 NR_073431 11528127 TMEM9B-AS1 HGNC:19230 HGNC:16823 TMEM11 transmembrane protein 11 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "PMI|PM1" C17orf35 chromosome 17 open reading frame 35 2003-01-14 2005-09-08 2005-09-08 2023-03-27 8834 ENSG00000178307 OTTHUMG00000178971 uc002gyp.3 BC002819 NM_003876 CCDS11216 P17152 "2110658|21274005|36795401" MGI:2144726 RGD:1309817 618817 HGNC:16823 "ENST00000317635.6|NM_003876.3" HGNC:55671 TMEM11-DT TMEM11 divergent transcript non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Divergent transcripts 1990 2021-06-30 2021-06-30 107984969 ENSG00000235530 NR_184102 HGNC:21076 TMEM14A transmembrane protein 14A protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "PTD011|C6orf73" Transmembrane protein 14 family 2219 2003-06-11 2023-01-20 28978 ENSG00000096092 OTTHUMG00000014856 uc003pax.4 AF239771 NM_014051 CCDS4943 Q9Y6G1 21723035 MGI:1922962 RGD:1307710 616870 HGNC:21076 "ENST00000211314.5|NM_014051.4" -HGNC:21384 TMEM14B transmembrane protein 14B protein-coding gene gene with protein product Approved 6p24.2 06p24.2 MGC1223 Transmembrane protein 14 family 2219 2003-06-11 2023-01-20 81853 ENSG00000137210 OTTHUMG00000014246 uc003mzk.5 AL024498 NM_030969 "CCDS4515|CCDS47372|CCDS75395|CCDS75397|CCDS75396" Q9NUH8 29033352 MGI:1913404 619865 HGNC:21384 "ENST00000379542.10|NM_030969.5" +HGNC:21384 TMEM14B transmembrane protein 14B protein-coding gene gene with protein product Approved 6p24.2 06p24.2 MGC1223 Transmembrane protein 14 family 2219 2003-06-11 2023-01-20 81853 ENSG00000137210 OTTHUMG00000014246 uc003mzk.5 AL024498 NM_030969 "CCDS75395|CCDS47372|CCDS75397|CCDS75396|CCDS4515" Q9NUH8 29033352 MGI:1913404 619865 HGNC:21384 "ENST00000379542.10|NM_030969.5" HGNC:55230 TMEM14B-DT TMEM14B divergent transcript non-coding RNA RNA, long non-coding Approved 6p24.2 06p24.2 Divergent transcripts 1990 2020-09-16 2020-09-16 118597831 ENSG00000272097 XR_007059443 HGNC:20952 TMEM14C transmembrane protein 14C protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "HSPC194|bA421M1.6|NET26" C6orf53 chromosome 6 open reading frame 53 Transmembrane protein 14 family 2219 2003-04-24 2004-04-21 2004-04-16 2023-03-27 51522 ENSG00000111843 OTTHUMG00000014242 uc021ylj.2 AF151028 NM_016462 CCDS4514 Q9P0S9 "11042152|12958361|25157825" MGI:1913404 RGD:621692 615318 HGNC:20952 "ENST00000229563.6|NM_016462.4" HGNC:15660 TMEM14DP transmembrane protein 14D, pseudogene pseudogene pseudogene Approved 10q21.3 10q21.3 bA524O24.3 TMEM14D transmembrane protein 14D Transmembrane protein 14 family 2219 2004-05-27 2015-09-24 2015-09-24 2015-09-24 645203 ENSG00000214881 OTTHUMG00000018356 NG_023183 A8MWL7 MGI:1913404 HGNC:15660 HGNC:34386 TMEM14EP transmembrane protein 14E, pseudogene pseudogene pseudogene Approved 3q25.2 03q25.2 TMEM14E transmembrane protein 14E Transmembrane protein 14 family 2219 2008-07-04 2015-09-24 2015-09-24 2023-03-15 645843 ENSG00000221962 OTTHUMG00000159652 NR_132656 Q6UXP3 RGD:2319087 HGNC:34386 HGNC:26623 TMEM17 transmembrane protein 17 protein-coding gene gene with protein product Approved 2p15 02p15 FLJ34583 2004-01-14 2023-03-27 200728 ENSG00000186889 OTTHUMG00000129455 uc002sbt.3 NM_198276 CCDS1871 Q86X19 "26982032|29050311" MGI:2144205 RGD:1310566 614950 HGNC:26623 "ENST00000335390.6|NM_198276.3" -HGNC:25257 TMEM18 transmembrane protein 18 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "DKFZp434C1714|lncND" 2004-02-05 2023-03-27 129787 ENSG00000151353 OTTHUMG00000151381 uc002qwl.4 AL137269 NM_152834 "CCDS86816|CCDS33141|CCDS86815" Q96B42 "27029472|21980424" MGI:2387176 RGD:1359389 613220 HGNC:25257 "ENST00000281017.8|NM_152834.4" +HGNC:25257 TMEM18 transmembrane protein 18 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "DKFZp434C1714|lncND" 2004-02-05 2023-03-27 129787 ENSG00000151353 OTTHUMG00000151381 uc002qwl.4 AL137269 NM_152834 "CCDS86816|CCDS86815|CCDS33141" Q96B42 "27029472|21980424" MGI:2387176 RGD:1359389 613220 HGNC:25257 "ENST00000281017.8|NM_152834.4" HGNC:54481 TMEM18-DT TMEM18 divergent transcript non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 AC092159.2 Divergent transcripts 1990 2019-08-08 2019-08-08 105373354 ENSG00000233296 NR_183416 31361511 HGNC:54481 HGNC:25605 TMEM19 transmembrane protein 19 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 FLJ10936 2004-03-04 2023-01-20 55266 ENSG00000139291 OTTHUMG00000169558 uc001sws.4 BC008596 NM_018279 CCDS9002 Q96HH6 12477932 MGI:1914476 RGD:735209 HGNC:25605 "ENST00000266673.10|NM_018279.4" -HGNC:25890 TMEM25 transmembrane protein 25 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 FLJ14399 C2-set domain containing 592 2004-04-14 2023-03-27 84866 ENSG00000149582 OTTHUMG00000166339 uc010rye.3 AK075437 NM_032780 "CCDS44748|CCDS44746|CCDS44745|CCDS44747|CCDS8398|CCDS81630" Q86YD3 "15254712|12975309|31424425" MGI:1918937 RGD:1596132 613934 HGNC:25890 "ENST00000313236.10|NM_032780.4" +HGNC:25890 TMEM25 transmembrane protein 25 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 FLJ14399 C2-set domain containing 592 2004-04-14 2023-03-27 84866 ENSG00000149582 OTTHUMG00000166339 uc010rye.3 AK075437 NM_032780 "CCDS44745|CCDS44746|CCDS8398|CCDS44748|CCDS81630|CCDS44747" Q86YD3 "15254712|12975309|31424425" MGI:1918937 RGD:1596132 613934 HGNC:25890 "ENST00000313236.10|NM_032780.4" HGNC:28550 TMEM26 transmembrane protein 26 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "MGC35010|Em:AC068892.1" 2004-04-16 2023-01-20 219623 ENSG00000196932 OTTHUMG00000018293 uc001jlo.3 BC042872 NM_178505 CCDS41530 Q6ZUK4 "21980401|23663743|30089732" MGI:2143537 RGD:1309273 617803 HGNC:28550 "ENST00000399298.8|NM_178505.8" HGNC:51209 TMEM26-AS1 TMEM26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q21.2 10q21.2 Antisense RNAs 1987 2014-08-07 2014-08-07 101928781 ENSG00000237233 OTTHUMG00000018294 BC041470 NR_120643 TMEM26-AS1 HGNC:51209 HGNC:16667 TMEM30A transmembrane protein 30A protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "FLJ10856|CDC50A" C6orf67 chromosome 6 open reading frame 67 2003-05-09 2004-06-18 2004-06-17 2023-03-27 55754 ENSG00000112697 OTTHUMG00000015050 uc003phw.3 AK001718 NM_018247 "CCDS4983|CCDS47453" Q9NV96 "15375526|21289302|28839191" MGI:106402 RGD:1303315 611028 objectId:3154 HGNC:16667 "ENST00000230461.11|NM_018247.4" @@ -38957,15 +38960,15 @@ HGNC:25535 TMEM38B transmembrane protein 38B protein-coding gene gene with prote HGNC:56587 TMEM38BP1 TMEM38B pseudogene 1 pseudogene pseudogene Approved 3q26.32 03q26.32 2022-11-03 2022-11-03 100131216 ENSG00000238026 NG_022228 PGOHUM00000299279 HGNC:25600 TMEM39A transmembrane protein 39A protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "FLJ10902|SUSR2" suppressor of SQST-1 aggregates in rpl-43 mutants 2005-01-10 2023-03-27 55254 ENSG00000176142 OTTHUMG00000159361 uc003eck.3 BC021277 NM_018266 CCDS2987 Q9NV64 "28744351|31806350|33531362" MGI:1915096 RGD:1306421 HGNC:25600 "ENST00000319172.10|NM_018266.3" HGNC:25510 TMEM39B transmembrane protein 39B protein-coding gene gene with protein product Approved 1p35.2 01p35.2 FLJ10315 MicroRNA protein coding host genes 1691 2005-01-10 2023-01-20 55116 ENSG00000121775 OTTHUMG00000004020 uc010ogv.3 AL136695 NM_018056 CCDS351 Q9GZU3 12477932 MGI:2682939 RGD:1359450 HGNC:25510 "ENST00000336294.10|NM_018056.4" -HGNC:25620 TMEM40 transmembrane protein 40 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 FLJ11036 2005-01-10 2023-01-20 55287 ENSG00000088726 OTTHUMG00000129801 uc062gwh.1 BC020658 NM_018306 "CCDS2613|CCDS68347|CCDS68348" Q8WWA1 29351801 MGI:2137870 RGD:1587025 HGNC:25620 "ENST00000314124.12|NM_018306.4" +HGNC:25620 TMEM40 transmembrane protein 40 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 FLJ11036 2005-01-10 2023-01-20 55287 ENSG00000088726 OTTHUMG00000129801 uc062gwh.1 BC020658 NM_018306 "CCDS68347|CCDS2613|CCDS68348" Q8WWA1 29351801 MGI:2137870 RGD:1587025 HGNC:25620 "ENST00000314124.12|NM_018306.4" HGNC:30544 TMEM41A transmembrane protein 41A protein-coding gene gene with protein product Approved 3q27.2 03q27.2 MGC15397 2005-01-19 2023-01-20 90407 ENSG00000163900 OTTHUMG00000156660 uc003fpj.2 BC019884 NM_080652 CCDS3271 Q96HV5 33520197 MGI:1913914 RGD:1591692 HGNC:30544 "ENST00000421852.6|NM_080652.4" -HGNC:28948 TMEM41B transmembrane protein 41B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 KIAA0033 stasimon 2005-01-19 2023-03-27 440026 ENSG00000166471 OTTHUMG00000165719 uc001mhn.4 D26067 NM_001165030 "CCDS53600|CCDS31424" Q5BJD5 "30093494|30126924|30352685|36604140" MGI:1289225 RGD:1310870 620271 HGNC:28948 "ENST00000528080.6|NM_015012.4" +HGNC:28948 TMEM41B transmembrane protein 41B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 KIAA0033 stasimon 2005-01-19 2023-03-27 440026 ENSG00000166471 OTTHUMG00000165719 uc001mhn.4 D26067 NM_001165030 "CCDS31424|CCDS53600" Q5BJD5 "30093494|30126924|30352685|36604140" MGI:1289225 RGD:1310870 620271 HGNC:28948 "ENST00000528080.6|NM_015012.4" HGNC:28444 TMEM42 transmembrane protein 42 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC29956 MicroRNA protein coding host genes 1691 2005-01-19 2023-01-20 131616 ENSG00000169964 OTTHUMG00000133092 uc003cnz.4 AL834253 NM_144638 CCDS2722 Q69YG0 12477932 MGI:1277176 RGD:1307118 HGNC:28444 "ENST00000302392.5|NM_144638.3" HGNC:28472 TMEM43 transmembrane protein 43 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "MGC3222|DKFZp586G1919|LUMA" ARVD5 arrhythmogenic right ventricular dysplasia 5 2005-01-24 2023-03-27 79188 ENSG00000170876 OTTHUMG00000129802 uc003byk.3 BC008054 NM_024334 CCDS2618 Q9BTV4 "18313022|27991920|34050020" MGI:1921372 RGD:1549711 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TMEM43|LRG_435|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_435.xml" 612048 159517 HGNC:28472 "ENST00000306077.5|NM_024334.3" HGNC:28472 -HGNC:25120 TMEM44 transmembrane protein 44 protein-coding gene gene with protein product Approved 3q29 03q29 DKFZp686O18124 2005-01-25 2023-03-27 93109 ENSG00000145014 OTTHUMG00000156023 uc011bsv.3 AL833026 NM_138399 "CCDS33921|CCDS54699|CCDS54698|CCDS3308" Q2T9K0 19997627 MGI:1924489 RGD:1563737 HGNC:25120 "ENST00000347147.9|NM_001011655.3" +HGNC:25120 TMEM44 transmembrane protein 44 protein-coding gene gene with protein product Approved 3q29 03q29 DKFZp686O18124 2005-01-25 2023-03-27 93109 ENSG00000145014 OTTHUMG00000156023 uc011bsv.3 AL833026 NM_138399 "CCDS54698|CCDS54699|CCDS3308|CCDS33921" Q2T9K0 19997627 MGI:1924489 RGD:1563737 HGNC:25120 "ENST00000347147.9|NM_001011655.3" HGNC:44272 TMEM44-AS1 TMEM44 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 TMEM44 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-03 2012-08-15 2014-02-12 100507297 ENSG00000231770 OTTHUMG00000156027 uc031scw.2 "BE071707|BI088778|BM717338|BU741601" NR_047573 TMEM44-AS1 HGNC:44272 -HGNC:41082 TMEM44-AS2 TMEM44 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Antisense RNAs 1987 2021-07-28 2021-07-28 122152323 ENSG00000229334 OTTHUMG00000156018 -HGNC:25480 TMEM45A transmembrane protein 45A protein-coding gene gene with protein product Approved 3q12.2 03q12.2 "FLJ10134|DERP7" 2005-02-04 2023-01-20 55076 ENSG00000181458 OTTHUMG00000150327 uc003dtz.2 AK000996 NM_018004 "CCDS2937|CCDS87113" Q9NWC5 26785122 MGI:1913122 RGD:6495353 616928 HGNC:25480 "ENST00000323523.8|NM_018004.3" +HGNC:41082 TMEM44-AS2 TMEM44 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Antisense RNAs 1987 2021-07-28 2021-07-28 122152323 ENSG00000229334 OTTHUMG00000156018 NR_186047 +HGNC:25480 TMEM45A transmembrane protein 45A protein-coding gene gene with protein product Approved 3q12.2 03q12.2 "FLJ10134|DERP7" 2005-02-04 2023-01-20 55076 ENSG00000181458 OTTHUMG00000150327 uc003dtz.2 AK000996 NM_018004 "CCDS87113|CCDS2937" Q9NWC5 26785122 MGI:1913122 RGD:6495353 616928 HGNC:25480 "ENST00000323523.8|NM_018004.3" HGNC:25194 TMEM45B transmembrane protein 45B protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "BC016153|FLJ40787" 2005-02-04 2023-03-27 120224 ENSG00000151715 OTTHUMG00000165760 uc001qfe.2 AK098106 NM_138788 CCDS8482 Q96B21 "21277373|28244852|36322717" MGI:2384574 RGD:1305586 HGNC:25194 "ENST00000281441.8|NM_138788.5" HGNC:18515 TMEM47 transmembrane protein 47 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 "BCMP1|DKFZP761J17121|DKFZp564E153|VAB-9" TM4SF10 transmembrane 4 superfamily member 10 2003-07-10 2005-03-21 2005-03-21 2023-01-20 83604 ENSG00000147027 OTTHUMG00000021343 uc004ddh.3 AK090917 NM_031442 CCDS14235 Q9BQJ4 "11472633|26990309" MGI:2177570 RGD:1564799 300698 HGNC:18515 "ENST00000275954.4|NM_031442.4" HGNC:30590 TMEM50A transmembrane protein 50A protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SMP1 small membrane protein 1 2005-06-02 2023-03-27 23585 ENSG00000183726 OTTHUMG00000007651 uc001bke.4 AY071927 NM_014313 CCDS264 O95807 "10938938|10845894|33899290" MGI:1919067 RGD:1305638 605348 HGNC:30590 "ENST00000374358.5|NM_014313.4" @@ -38974,10 +38977,10 @@ HGNC:25488 TMEM51 transmembrane protein 51 protein-coding gene gene with protein HGNC:26301 TMEM51-AS1 TMEM51 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 FLJ23703 C1orf126 chromosome 1 open reading frame 126 Antisense RNAs 1987 2005-06-23 2013-12-05 2013-12-05 2023-03-15 200197 ENSG00000175147 OTTHUMG00000002043 uc009voh.3 AK074283 NR_027136 TMEM51-AS1 HGNC:26301 HGNC:32332 TMEM51-AS2 TMEM51 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 C1orf195 chromosome 1 open reading frame 195 Antisense RNAs 1987 2006-06-30 2021-01-25 2021-01-25 2023-03-15 727684 ENSG00000204464 OTTHUMG00000037852 uc057cmh.2 NR_167930 HGNC:32332 HGNC:27916 TMEM52 transmembrane protein 52 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 2005-07-15 2023-03-27 339456 ENSG00000178821 OTTHUMG00000000944 uc001aij.3 AJ278736 NM_178545 CCDS35 Q8NDY8 30263043 MGI:1916921 RGD:2318502 HGNC:27916 "ENST00000310991.8|NM_178545.4" -HGNC:26438 TMEM52B transmembrane protein 52B protein-coding gene gene with protein product Approved 12p13.2 12p13.2 FLJ31166 C12orf59 chromosome 12 open reading frame 59 2006-02-09 2012-08-15 2012-08-15 2023-03-27 120939 ENSG00000165685 OTTHUMG00000168410 uc031yuk.2 AY358845 NM_153022 "CCDS66314|CCDS8619" Q4KMG9 "12975309|33641663" MGI:2442838 RGD:1586337 HGNC:26438 "ENST00000543484.2|NM_001384896.1" -HGNC:26186 TMEM53 transmembrane protein 53 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLJ22353|NET4" 2005-06-07 2023-03-27 79639 ENSG00000126106 OTTHUMG00000007833 uc001cmc.4 NM_024587 "CCDS72773|CCDS511" Q6P2H8 "12958361|33824347" MGI:1916027 RGD:1307066 619722 HGNC:26186 "ENST00000372237.8|NM_024587.4" +HGNC:26438 TMEM52B transmembrane protein 52B protein-coding gene gene with protein product Approved 12p13.2 12p13.2 FLJ31166 C12orf59 chromosome 12 open reading frame 59 2006-02-09 2012-08-15 2012-08-15 2023-03-27 120939 ENSG00000165685 OTTHUMG00000168410 uc031yuk.2 AY358845 NM_153022 "CCDS8619|CCDS66314" Q4KMG9 "12975309|33641663" MGI:2442838 RGD:1586337 HGNC:26438 "ENST00000543484.2|NM_001384896.1" +HGNC:26186 TMEM53 transmembrane protein 53 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLJ22353|NET4" 2005-06-07 2023-03-27 79639 ENSG00000126106 OTTHUMG00000007833 uc001cmc.4 NM_024587 "CCDS511|CCDS72773" Q6P2H8 "12958361|33824347" MGI:1916027 RGD:1307066 619722 HGNC:26186 "ENST00000372237.8|NM_024587.4" HGNC:24143 TMEM54 transmembrane protein 54 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "CAC-1|BCLP" "cervical adenocarcinoma cell line 1 cDNA|beta-casein-like protein" 2005-06-28 2023-01-20 113452 ENSG00000121900 OTTHUMG00000004016 uc001bwi.2 NM_033504 "CCDS85954|CCDS371" Q969K7 9500206 MGI:1913510 RGD:1304886 HGNC:24143 "ENST00000373463.8|NM_033504.4" -HGNC:1239 TMEM59 transmembrane protein 59 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 HSPC001 C1orf8 chromosome 1 open reading frame 8 1999-07-22 2005-07-22 2005-07-22 2023-01-20 9528 ENSG00000116209 OTTHUMG00000008437 uc001cwp.4 AF047439 NM_004872 "CCDS81330|CCDS81329|CCDS586" Q9BXS4 "9653160|23376921" MGI:1929278 RGD:1310313 617084 HGNC:1239 "ENST00000234831.10|NM_004872.5" +HGNC:1239 TMEM59 transmembrane protein 59 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 HSPC001 C1orf8 chromosome 1 open reading frame 8 1999-07-22 2005-07-22 2005-07-22 2023-01-20 9528 ENSG00000116209 OTTHUMG00000008437 uc001cwp.4 AF047439 NM_004872 "CCDS81329|CCDS81330|CCDS586" Q9BXS4 "9653160|23376921" MGI:1929278 RGD:1310313 617084 HGNC:1239 "ENST00000234831.10|NM_004872.5" HGNC:13237 TMEM59L transmembrane protein 59 like protein-coding gene gene with protein product Approved 19p13.11 19p13.11 BSMAP C19orf4 chromosome 19 open reading frame 4 2002-09-13 2007-03-14 2015-11-23 2023-01-20 25789 ENSG00000105696 OTTHUMG00000183113 uc002njy.5 AF186264 NM_012109 CCDS12383 Q9UK28 "10527841|27324899" MGI:1915187 RGD:1305557 617096 HGNC:13237 "ENST00000262817.8|NM_012109.3" HGNC:21754 TMEM60 transmembrane protein 60 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 DC32 C7orf35 chromosome 7 open reading frame 35 2003-07-22 2005-07-25 2005-07-25 2023-03-27 85025 ENSG00000135211 OTTHUMG00000130689 uc003ugn.4 AF260336 NM_032936 CCDS5593 Q9H2L4 36744183 MGI:2673965 RGD:1308939 HGNC:21754 "ENST00000257663.4|NM_032936.4" HGNC:27296 TMEM61 transmembrane protein 61 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 2005-07-25 2023-01-20 199964 ENSG00000143001 OTTHUMG00000009991 uc001cyd.3 BC029775 NM_182532 CCDS601 Q8N0U2 12477932 MGI:3041156 RGD:1584102 HGNC:27296 "ENST00000371268.4|NM_182532.3" @@ -38988,32 +38991,32 @@ HGNC:23787 TMEM63C transmembrane protein 63C protein-coding gene gene with prote HGNC:25441 TMEM64 transmembrane protein 64 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 DKFZp762C1112 2005-07-29 2023-03-27 169200 ENSG00000180694 OTTHUMG00000157185 uc003yen.3 AL834364 NM_001008495 "CCDS55260|CCDS34920" Q6YI46 23395171 MGI:2140359 RGD:1596128 HGNC:25441 "ENST00000458549.7|NM_001008495.4" HGNC:25203 TMEM65 transmembrane protein 65 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 2005-07-29 2023-03-27 157378 ENSG00000164983 OTTHUMG00000165021 uc010mdl.4 BC032396 NM_194291 CCDS6348 Q6PI78 "24765583|26403541" MGI:1922118 RGD:1563224 616609 HGNC:25203 "ENST00000297632.8|NM_194291.3" HGNC:28396 TMEM67 transmembrane protein 67 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "MGC26979|JBTS6|NPHP11" Meckelin MKS3 Meckel syndrome, type 3 MKS complex 1545 2005-08-04 2023-03-15 91147 ENSG00000164953 OTTHUMG00000153119 uc011lgk.3 BX648768 NM_153704 CCDS6258 Q5HYA8 "12384791|16415887|19508969" MGI:1923928 RGD:1586167 LRG_688|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_688.xml 609884 120140 HGNC:28396 "ENST00000453321.8|NM_153704.6" HGNC:28396 -HGNC:26510 TMEM68 transmembrane protein 68 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 FLJ32370 2005-08-04 2023-03-27 137695 ENSG00000167904 OTTHUMG00000164293 uc003xsh.3 AK056932 NM_152417 "CCDS75740|CCDS75742|CCDS6161|CCDS75741" Q96MH6 "28472192|36768334" MGI:1919348 RGD:1309006 HGNC:26510 "ENST00000434581.7|NM_001286657.2" +HGNC:26510 TMEM68 transmembrane protein 68 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 FLJ32370 2005-08-04 2023-03-27 137695 ENSG00000167904 OTTHUMG00000164293 uc003xsh.3 AK056932 NM_152417 "CCDS75741|CCDS6161|CCDS75742|CCDS75740" Q96MH6 "28472192|36768334" MGI:1919348 RGD:1309006 HGNC:26510 "ENST00000434581.7|NM_001286657.2" HGNC:28035 TMEM69 transmembrane protein 69 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 FLJ21029 C1orf154 chromosome 1 open reading frame 154 2005-07-14 2005-08-17 2005-08-17 2023-01-20 51249 ENSG00000159596 OTTHUMG00000040993 uc001cor.2 "BC040289|BC013608" NM_016486 CCDS41325 Q5SWH9 MGI:3045357 RGD:1561569 HGNC:28035 "ENST00000372025.5|NM_016486.4" HGNC:56807 TMEM69P1 TMEM69 pseudogene 1 pseudogene pseudogene Approved 8q22.1 08q22.1 2023-04-19 2023-04-19 100127982 ENSG00000270861 NG_022398 PGOHUM00000303315 HGNC:56808 TMEM69P2 TMEM69 pseudogene 2 pseudogene pseudogene Approved 5q35.3 05q35.3 2023-04-19 2023-04-19 100419853 ENSG00000248761 NG_024753 PGOHUM00000301217 -HGNC:26050 TMEM70 transmembrane protein 70 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 FLJ20533 Mitochondrial respiratory chain complex assembly factors 645 2005-08-26 2023-01-20 54968 ENSG00000175606 OTTHUMG00000164502 uc003yab.4 BC002748 NM_017866 "CCDS6215|CCDS47876" Q9BUB7 "21945727|22986587|27580883" MGI:1915068 RGD:1566224 612418 169415 HGNC:26050 "ENST00000312184.6|NM_017866.6" HGNC:26050 -HGNC:26572 TMEM71 transmembrane protein 71 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 FLJ33069 2005-09-02 2023-01-20 137835 ENSG00000165071 OTTHUMG00000164647 uc003ytn.4 AK057631 NM_144649 "CCDS94342|CCDS94343|CCDS6366|CCDS47921" Q6P5X7 20676127 MGI:2146049 RGD:1593414 620287 HGNC:26572 "ENST00000677595.1|NM_001382403.1" +HGNC:26050 TMEM70 transmembrane protein 70 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 FLJ20533 Mitochondrial respiratory chain complex assembly factors 645 2005-08-26 2023-01-20 54968 ENSG00000175606 OTTHUMG00000164502 uc003yab.4 BC002748 NM_017866 "CCDS47876|CCDS6215" Q9BUB7 "21945727|22986587|27580883" MGI:1915068 RGD:1566224 612418 169415 HGNC:26050 "ENST00000312184.6|NM_017866.6" HGNC:26050 +HGNC:26572 TMEM71 transmembrane protein 71 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 FLJ33069 2005-09-02 2023-01-20 137835 ENSG00000165071 OTTHUMG00000164647 uc003ytn.4 AK057631 NM_144649 "CCDS94343|CCDS94342|CCDS6366|CCDS47921" Q6P5X7 20676127 MGI:2146049 RGD:1593414 620287 HGNC:26572 "ENST00000677595.1|NM_001382403.1" HGNC:31658 TMEM72 transmembrane protein 72 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "bA285G1.3|KSP37" C10orf127 chromosome 10 open reading frame 127 2004-04-28 2008-08-21 2008-08-21 2023-03-28 643236 ENSG00000187783 OTTHUMG00000018067 uc001jbn.3 AB235418 NM_001123376 "CCDS86085|CCDS41504" A0PK05 36478074 MGI:2442707 RGD:1308850 HGNC:31658 "ENST00000389583.5|NM_001123376.3" HGNC:27349 TMEM72-AS1 TMEM72 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 TMEM72 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-10-20 2012-08-15 2014-11-19 220980 ENSG00000224812 OTTHUMG00000018062 uc001jbk.1 NR_033842 TMEM72-AS1 HGNC:27349 HGNC:26409 TMEM74 transmembrane protein 74 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "FLJ30668|NET36" 2005-09-22 2023-01-20 157753 ENSG00000164841 OTTHUMG00000164881 uc003ymy.2 AK055230 NM_153015 CCDS6310 Q96NL1 "18294959|28412412" MGI:2443417 RGD:1566279 613935 HGNC:26409 "ENST00000297459.4|NM_153015.3" HGNC:15893 TMEM74B transmembrane protein 74B protein-coding gene gene with protein product Approved 20p13 20p13 FLJ11190 C20orf46 chromosome 20 open reading frame 46 2001-06-21 2011-11-23 2011-11-23 2023-01-20 55321 ENSG00000125895 OTTHUMG00000031655 uc002weq.2 AK002052 NM_018354 CCDS13011 Q9NUR3 MGI:1918629 RGD:1564048 HGNC:15893 "ENST00000429036.2|NM_001304748.2" HGNC:32307 TMEM78 transmembrane protein 78 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 FLJ40168 2005-09-27 2014-11-19 677790 ENSG00000177800 OTTHUMG00000037629 uc057qfo.1 AK097487 NR_172940 Q5T7P6 HGNC:28196 TMEM79 transmembrane protein 79 protein-coding gene gene with protein product Approved 1q22 01q22 "MGC13102|FLJ16057|FLJ32254|MATT" mattrin 2006-02-15 2023-01-20 84283 ENSG00000163472 OTTHUMG00000019788 uc010phi.3 BC005094 NM_032323 CCDS1138 Q9BSE2 "24084074|30463955" MGI:1919163 RGD:1309886 615531 HGNC:28196 "ENST00000405535.3|NM_032323.3" -HGNC:27453 TMEM80 transmembrane protein 80 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 FLJ38216 2005-10-18 2023-01-20 283232 ENSG00000177042 OTTHUMG00000133307 uc001lqr.6 NM_174940 "CCDS7711|CCDS41587|CCDS73231|CCDS91399" Q96HE8 "22936720|26982032" MGI:1918698 RGD:1308399 620248 HGNC:27453 "ENST00000397510.9|NM_001042463.3" +HGNC:27453 TMEM80 transmembrane protein 80 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 FLJ38216 2005-10-18 2023-01-20 283232 ENSG00000177042 OTTHUMG00000133307 uc001lqr.6 NM_174940 "CCDS91399|CCDS73231|CCDS7711|CCDS41587" Q96HE8 "22936720|26982032" MGI:1918698 RGD:1308399 620248 HGNC:27453 "ENST00000397510.9|NM_001042463.3" HGNC:32349 TMEM81 transmembrane protein 81 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "UNQ2788|MGC75217|HC3107|KVLA2788" Immunoglobulin like domain containing 594 2006-02-15 2023-01-20 388730 ENSG00000174529 OTTHUMG00000037103 uc001hbt.3 BC061592 NM_203376 CCDS1450 Q6P7N7 MGI:1921876 RGD:1561544 HGNC:32349 "ENST00000367167.4|NM_203376.2" HGNC:32350 TMEM82 transmembrane protein 82 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 2007-08-02 2023-01-20 388595 ENSG00000162460 OTTHUMG00000003065 uc001axc.5 NM_001013641 CCDS30608 A0PJX8 MGI:2384869 RGD:1566169 HGNC:32350 "ENST00000375782.2|NM_001013641.3" HGNC:26890 TMEM86A transmembrane protein 86A protein-coding gene gene with protein product Approved 11p15.1 11p15.1 FLJ90119 2005-10-28 2023-03-28 144110 ENSG00000151117 OTTHUMG00000167680 uc001moz.2 BC035692 NM_153347 CCDS7844 Q8N2M4 35835749 MGI:1915143 RGD:1305749 HGNC:26890 "ENST00000280734.3|NM_153347.3" HGNC:28448 TMEM86B transmembrane protein 86B protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC30208 "alkenylglycerophosphocholine hydrolase|alkenylglycerophosphoethanolamine hydrolase" 2005-10-28 2023-01-20 255043 ENSG00000180089 OTTHUMG00000187285 uc002qju.4 BC023000 NM_173804 CCDS12920 Q8N661 21515882 MGI:1915505 RGD:1593455 617806 3.3.2.2 HGNC:28448 "ENST00000327042.5|NM_173804.5" -HGNC:24522 TMEM87A transmembrane protein 87A protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "DKFZP564G2022|ELKIN1" 7TM uncharacterized proteins 310 2005-10-30 2023-03-15 25963 ENSG00000103978 OTTHUMG00000172783 uc059icp.1 AF132733 NM_015497 "CCDS45243|CCDS32205" Q8NBN3 "26157166|32228863|36373655" MGI:2441844 RGD:1309417 HGNC:24522 "ENST00000389834.9|NM_015497.5" +HGNC:24522 TMEM87A transmembrane protein 87A protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "DKFZP564G2022|ELKIN1" 7TM uncharacterized proteins 310 2005-10-30 2023-03-15 25963 ENSG00000103978 OTTHUMG00000172783 uc059icp.1 AF132733 NM_015497 "CCDS32205|CCDS45243" Q8NBN3 "26157166|32228863|36373655" MGI:2441844 RGD:1309417 HGNC:24522 "ENST00000389834.9|NM_015497.5" HGNC:25913 TMEM87B transmembrane protein 87B protein-coding gene gene with protein product Approved 2q13 02q13 FLJ14681 7TM uncharacterized proteins 310 2005-10-30 2023-03-28 84910 ENSG00000153214 OTTHUMG00000153266 uc002thm.2 AC092645 NM_032824 "CCDS33275|CCDS92843" Q96K49 36373655 MGI:1919727 RGD:1307907 617203 471236 HGNC:25913 "ENST00000283206.9|NM_032824.3" -HGNC:32371 TMEM88 transmembrane protein 88 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC71744|FLJ20025" 2005-12-13 2023-03-28 92162 ENSG00000167874 OTTHUMG00000178022 uc002giy.4 BC057812 NM_203411 "CCDS11121|CCDS82058" Q6PEY1 21044957 MGI:1914270 RGD:1561781 617813 HGNC:32371 "ENST00000301599.7|NM_203411.2" +HGNC:32371 TMEM88 transmembrane protein 88 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC71744|FLJ20025" 2005-12-13 2023-03-28 92162 ENSG00000167874 OTTHUMG00000178022 uc002giy.4 BC057812 NM_203411 "CCDS82058|CCDS11121" Q6PEY1 21044957 MGI:1914270 RGD:1561781 617813 HGNC:32371 "ENST00000301599.7|NM_203411.2" HGNC:37099 TMEM88B transmembrane protein 88B protein-coding gene gene with protein product Approved 1p36.33 01p36.33 2010-01-14 2023-01-20 643965 ENSG00000205116 OTTHUMG00000153395 uc010nyp.2 NM_001146685 CCDS57964 A6NKF7 MGI:2444329 RGD:1588243 HGNC:37099 "ENST00000378821.4|NM_001146685.2" HGNC:32372 TMEM89 transmembrane protein 89 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 2005-11-02 2023-01-20 440955 ENSG00000183396 OTTHUMG00000156647 uc011bbo.3 AX657016 NM_001008269 CCDS33751 A2RUT3 MGI:1916634 RGD:1564575 HGNC:32372 "ENST00000330862.4|NM_001008269.3" -HGNC:32393 TMEM91 transmembrane protein 91 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ27310|IFITMD6|DSPC3" "interferon induced transmembrane protein domain containing 6|dispanin subfamily C member 3" interferon induced transmembrane protein domain containing 1600 2005-11-25 2023-01-20 641649 ENSG00000142046 OTTHUMG00000168127 uc002oqk.5 "AK130820|BC063705" NM_001042595 "CCDS42571|CCDS42572|CCDS46082|CCDS46084|CCDS46083" Q6ZNR0 12477932 MGI:2443589 RGD:2323264 618294 HGNC:32393 "ENST00000392002.7|NM_001098821.2" +HGNC:32393 TMEM91 transmembrane protein 91 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ27310|IFITMD6|DSPC3" "interferon induced transmembrane protein domain containing 6|dispanin subfamily C member 3" Dispanins 1600 2005-11-25 2023-01-20 641649 ENSG00000142046 OTTHUMG00000168127 uc002oqk.5 "AK130820|BC063705" NM_001042595 "CCDS46084|CCDS42572|CCDS46083|CCDS46082|CCDS42571" Q6ZNR0 12477932 MGI:2443589 RGD:2323264 618294 HGNC:32393 "ENST00000392002.7|NM_001098821.2" HGNC:26579 TMEM92 transmembrane protein 92 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 FLJ33318 2005-12-13 2023-01-20 162461 ENSG00000167105 OTTHUMG00000162060 uc002iqn.2 NM_153229 CCDS11562 Q6UXU6 "12975309|22120523" MGI:3034723 RGD:1593405 619604 HGNC:26579 "ENST00000507382.2|NM_153229.3" HGNC:26579 HGNC:50442 TMEM92-AS1 TMEM92 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 "RP11-893F2.9|lncRNA-508851|TCONS_00025237" Antisense RNAs 1987 2014-04-25 2014-04-29 2014-04-29 2014-04-29 103752589 ENSG00000251179 OTTHUMG00000162058 BU687974 NR_125805 24768205 TMEM92-AS1 HGNC:50442 -HGNC:28983 TMEM94 transmembrane protein 94 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA0195 KIAA0195 MicroRNA protein coding host genes 1691 2005-12-15 2015-10-07 2015-10-07 2023-03-28 9772 ENSG00000177728 OTTHUMG00000179611 NM_014738 "CCDS32732|CCDS92392|CCDS92394|CCDS82204" Q12767 "8724849|30526868" MGI:1919197 RGD:7685108 618163 HGNC:28983 "ENST00000314256.12|NM_014738.6" HGNC:28983 +HGNC:28983 TMEM94 transmembrane protein 94 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA0195 KIAA0195 MicroRNA protein coding host genes 1691 2005-12-15 2015-10-07 2015-10-07 2023-03-28 9772 ENSG00000177728 OTTHUMG00000179611 NM_014738 "CCDS92392|CCDS32732|CCDS82204|CCDS92394" Q12767 "8724849|30526868" MGI:1919197 RGD:7685108 618163 HGNC:28983 "ENST00000314256.12|NM_014738.6" HGNC:28983 HGNC:27898 TMEM95 transmembrane protein 95 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC129793|UNQ9390" 2005-12-15 2023-03-28 339168 ENSG00000182896 OTTHUMG00000132899 uc002ggf.1 NM_198154 "CCDS32546|CCDS82052|CCDS82051" Q3KNT9 "32484434|36161911" MGI:3779488 RGD:1593310 617814 HGNC:27898 "ENST00000576060.6|NM_001320436.2" HGNC:28106 TMEM97 transmembrane protein 97 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "MAC30|σ2R" sigma2 receptor 2006-02-10 2023-01-20 27346 ENSG00000109084 OTTHUMG00000132497 uc002hat.3 BC091504 NM_014573 CCDS11226 Q5BJF2 "7694637|15375745|19583955|27378690|28559337" MGI:1916321 RGD:1307423 612912 objectId:2553 HGNC:28106 "ENST00000226230.8|NM_014573.3" HGNC:39640 TMEM97P1 transmembrane protein 97 pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 2011-03-17 2011-03-17 100873880 ENSG00000234030 OTTHUMG00000154997 NG_032333 PGOHUM00000239183 HGNC:39640 @@ -39022,57 +39025,57 @@ HGNC:24529 TMEM98 transmembrane protein 98 protein-coding gene gene with protein HGNC:25607 TMEM100 transmembrane protein 100 protein-coding gene gene with protein product Approved 17q22 17q22 "FLJ10970|FLJ37856" 2005-12-16 2023-01-20 55273 ENSG00000166292 OTTHUMG00000177858 uc002iuk.5 AK001832 NM_018286 CCDS11587 Q9NV29 25640077 MGI:1915138 RGD:1560541 616334 HGNC:25607 "ENST00000424486.3|NM_018286.3" HGNC:28653 TMEM101 transmembrane protein 101 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MGC4251|FLJ23987" 2005-12-16 2023-01-20 84336 ENSG00000091947 OTTHUMG00000181803 uc002ieu.4 AK172826 NM_032376 CCDS11474 Q96IK0 12761501 MGI:1923797 RGD:1306490 HGNC:28653 "ENST00000206380.8|NM_032376.4" HGNC:26722 TMEM102 transmembrane protein 102 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ36878|CBAP" common beta-chain-associated protein 2005-12-16 2023-01-20 284114 ENSG00000181284 OTTHUMG00000132901 uc002ggx.1 AK094197 NM_178518 CCDS11104 Q8N9M5 23620790 MGI:1921591 RGD:1559450 613936 HGNC:26722 "ENST00000323206.2|NM_178518.3" -HGNC:25984 TMEM104 transmembrane protein 104 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ20255|FLJ00021" 2005-12-19 2023-01-20 54868 ENSG00000109066 OTTHUMG00000179025 uc002jls.5 AK074029 NM_017728 "CCDS32723|CCDS82201" Q8NE00 MGI:2444222 RGD:1307953 HGNC:25984 "ENST00000335464.10|NM_017728.4" +HGNC:25984 TMEM104 transmembrane protein 104 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ20255|FLJ00021" 2005-12-19 2023-01-20 54868 ENSG00000109066 OTTHUMG00000179025 uc002jls.5 AK074029 NM_017728 "CCDS82201|CCDS32723" Q8NE00 MGI:2444222 RGD:1307953 HGNC:25984 "ENST00000335464.10|NM_017728.4" HGNC:26794 TMEM105 TMEM105 long non-coding RNA non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 FLJ38792 transmembrane protein 105 Long non-coding RNAs with non-systematic symbols 1992 2005-12-19 2008-04-21 2018-08-09 2023-03-15 284186 ENSG00000185332 OTTHUMG00000177905 uc002kad.4 AK096111 NR_165247 Q8N8V8 HGNC:26794 -HGNC:28288 TMEM106A transmembrane protein 106A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MGC20235 2005-12-19 2023-03-28 113277 ENSG00000184988 OTTHUMG00000180879 uc002idn.2 AK056132 NM_145041 "CCDS11462|CCDS74073|CCDS77039" Q96A25 "24975047|35198896" MGI:1922056 RGD:1309043 HGNC:28288 "ENST00000612339.4|NM_145041.4" +HGNC:28288 TMEM106A transmembrane protein 106A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MGC20235 2005-12-19 2023-03-28 113277 ENSG00000184988 OTTHUMG00000180879 uc002idn.2 AK056132 NM_145041 "CCDS11462|CCDS77039|CCDS74073" Q96A25 "24975047|35198896" MGI:1922056 RGD:1309043 HGNC:28288 "ENST00000612339.4|NM_145041.4" HGNC:22407 TMEM106B transmembrane protein 106B protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "MGC33727|FLJ11273" 2005-12-19 2023-01-20 54664 ENSG00000106460 OTTHUMG00000125537 uc011jxk.3 BC033901 NM_018374 CCDS5358 Q9NUM4 "20154673|22511793|30332472|35344985" MGI:1919150 RGD:1303037 613413 HGNC:22407 "ENST00000396668.8|NM_001134232.2" HGNC:22407 HGNC:28775 TMEM106C transmembrane protein 106C protein-coding gene gene with protein product Approved 12q13.11 12q13.11 MGC5576 2005-12-19 2023-01-20 79022 ENSG00000134291 OTTHUMG00000169892 uc001rqr.4 BC000854 NM_024056 "CCDS8758|CCDS44867" Q9BVX2 MGI:1196384 RGD:1311532 HGNC:28775 "ENST00000429772.7|NM_001143842.2" -HGNC:28128 TMEM107 transmembrane protein 107 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC10744|JBTS29|MKS13" 2005-12-19 2023-01-20 84314 ENSG00000179029 OTTHUMG00000166276 uc002gkg.5 AF311338 NM_032354 "CCDS11132|CCDS86572|CCDS45607|CCDS86571" Q6UX40 "22698544|26123494|26518474" MGI:1914160 RGD:1595972 616183 471232 HGNC:28128 "ENST00000437139.7|NM_183065.4" HGNC:28128 +HGNC:28128 TMEM107 transmembrane protein 107 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC10744|JBTS29|MKS13" 2005-12-19 2023-01-20 84314 ENSG00000179029 OTTHUMG00000166276 uc002gkg.5 AF311338 NM_032354 "CCDS86571|CCDS45607|CCDS86572|CCDS11132" Q6UX40 "22698544|26123494|26518474" MGI:1914160 RGD:1595972 616183 471232 HGNC:28128 "ENST00000437139.7|NM_183065.4" HGNC:28128 HGNC:28451 TMEM108 transmembrane protein 108 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "MGC3040|CT124" cancer/testis antigen 124 2005-12-22 2023-03-28 66000 ENSG00000144868 OTTHUMG00000159685 uc003eph.5 AL136578 NM_023943 "CCDS75012|CCDS33858" Q6UXF1 "11214970|34690937" MGI:1932411 RGD:1311530 617361 HGNC:28451 "ENST00000321871.11|NM_023943.4" HGNC:50307 TMEM108-AS1 TMEM108 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q22.1 03q22.1 Antisense RNAs 1987 2014-04-07 2014-04-07 101927455 ENSG00000251011 OTTHUMG00000159722 NR_110812 TMEM108-AS1 HGNC:50307 HGNC:28771 TMEM109 transmembrane protein 109 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "MGC5508|SND3" 2005-12-22 2023-03-28 79073 ENSG00000110108 OTTHUMG00000167801 uc001nqg.4 NM_024092 CCDS7996 Q9BVC6 "8619474|9110174|36139500" MGI:1915789 RGD:1359538 619168 HGNC:28771 "ENST00000227525.8|NM_024092.3" HGNC:55487 TMEM109-DT TMEM109 divergent transcript non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 Divergent transcripts 1990 2021-03-11 2021-03-11 105369323 ENSG00000256944 -HGNC:33227 TMEM114 transmembrane protein 114 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 2007-08-01 2023-01-20 283953 ENSG00000232258 OTTHUMG00000172868 uc032dql.1 BC150511 NM_001146336 "CCDS73825|CCDS76819|CCDS76820" B3SHH9 "17492639|21689651" MGI:1921970 RGD:1560593 611579 HGNC:33227 "ENST00000620492.5|NM_001146336.2" +HGNC:33227 TMEM114 transmembrane protein 114 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 2007-08-01 2023-01-20 283953 ENSG00000232258 OTTHUMG00000172868 uc032dql.1 BC150511 NM_001146336 "CCDS76819|CCDS73825|CCDS76820" B3SHH9 "17492639|21689651" MGI:1921970 RGD:1560593 611579 HGNC:33227 "ENST00000620492.5|NM_001146336.2" HGNC:30055 TMEM115 transmembrane protein 115 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 PL6 placental protein 6 Rhomboid family 926 2006-01-13 2023-03-28 11070 ENSG00000126062 OTTHUMG00000044212 uc003dan.2 BC011948 NM_007024 CCDS2828 Q12893 "11085536|24806965" MGI:1930765 RGD:1310540 607069 HGNC:30055 "ENST00000266025.4|NM_007024.5" -HGNC:25084 TMEM116 transmembrane protein 116 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 FLJ90167 2006-01-20 2023-01-20 89894 ENSG00000198270 OTTHUMG00000169606 uc001ttf.3 AK074648 NM_138341 "CCDS55886|CCDS55887|CCDS9157" Q8NCL8 34789718 MGI:1924712 RGD:1596066 HGNC:25084 "ENST00000552374.7|NM_001193531.2" -HGNC:25308 TMEM117 transmembrane protein 117 protein-coding gene gene with protein product Approved 12q12 12q12 DKFZp434K2435 2006-01-20 2023-03-28 84216 ENSG00000139173 OTTHUMG00000169427 uc001rod.5 BC060798 NM_032256 "CCDS73462|CCDS8745" Q9H0C3 "11230166|28285135" MGI:2444580 RGD:1562562 HGNC:25308 "ENST00000266534.8|NM_032256.3" +HGNC:25084 TMEM116 transmembrane protein 116 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 FLJ90167 2006-01-20 2023-01-20 89894 ENSG00000198270 OTTHUMG00000169606 uc001ttf.3 AK074648 NM_138341 "CCDS9157|CCDS55887|CCDS55886" Q8NCL8 34789718 MGI:1924712 RGD:1596066 HGNC:25084 "ENST00000552374.7|NM_001193531.2" +HGNC:25308 TMEM117 transmembrane protein 117 protein-coding gene gene with protein product Approved 12q12 12q12 DKFZp434K2435 2006-01-20 2023-03-28 84216 ENSG00000139173 OTTHUMG00000169427 uc001rod.5 BC060798 NM_032256 "CCDS8745|CCDS73462" Q9H0C3 "11230166|28285135" MGI:2444580 RGD:1562562 HGNC:25308 "ENST00000266534.8|NM_032256.3" HGNC:27884 TMEM119 transmembrane protein 119 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 OBIF osteoblast induction factor 2006-01-24 2023-03-28 338773 ENSG00000183160 OTTHUMG00000169410 uc001tng.4 AK075501 NM_181724 CCDS9119 Q4V9L6 "12975309|20025746|21239498|22416756" MGI:2385228 RGD:1307573 618989 HGNC:27884 "ENST00000392806.4|NM_181724.3" -HGNC:21697 TMEM120A transmembrane protein 120A protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "TMPIT|NET29|TACAN" 2007-08-01 2023-03-28 83862 ENSG00000189077 OTTHUMG00000156620 uc032ztu.2 AF327923 NM_031925 "CCDS83192|CCDS64688" Q9BXJ8 "26024229|32084332|34465718" MGI:2686991 RGD:1311474 616550 HGNC:21697 "ENST00000493111.7|NM_031925.3" +HGNC:21697 TMEM120A transmembrane protein 120A protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "TMPIT|NET29|TACAN" 2007-08-01 2023-03-28 83862 ENSG00000189077 OTTHUMG00000156620 uc032ztu.2 AF327923 NM_031925 "CCDS64688|CCDS83192" Q9BXJ8 "26024229|32084332|34465718" MGI:2686991 RGD:1311474 616550 HGNC:21697 "ENST00000493111.7|NM_031925.3" HGNC:32008 TMEM120B transmembrane protein 120B protein-coding gene gene with protein product Approved 12q24.31 12q24.31 2007-08-01 2023-03-28 144404 ENSG00000188735 OTTHUMG00000169076 uc001ubc.5 BC127768 NM_001080825 CCDS41852 A0PK00 "26024229|34465718" MGI:3603158 RGD:1584031 616551 HGNC:32008 "ENST00000449592.7|NM_001080825.2" HGNC:20511 TMEM121 transmembrane protein 121 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "MGC4659|hole|hhole|TMEM121A" transmembrane protein 121A 2006-02-15 2023-03-28 80757 ENSG00000184986 OTTHUMG00000029912 uc001yrp.2 NM_025268 CCDS10006 Q9BTD3 "12204283|15950185" MGI:1916445 RGD:1597216 HGNC:20511 "ENST00000392519.7|NM_025268.4" HGNC:1844 TMEM121B transmembrane protein 121B protein-coding gene gene with protein product Approved 22q11.1 22q11.1 CECR6 cat eye syndrome chromosome region, candidate 6 2000-01-31 2017-06-23 2017-06-23 2023-01-20 27439 ENSG00000183307 OTTHUMG00000030471 uc002zmb.3 AF307451 NM_031890 "CCDS54494|CCDS13740" Q9BXQ6 11381032 MGI:2136977 RGD:1565302 HGNC:1844 "ENST00000331437.4|NM_031890.4" HGNC:30138 TMEM123 transmembrane protein 123 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 "PORIMIN|KCT3" pro oncosis receptor inducing membrane injury gene 2006-02-03 2023-03-28 114908 ENSG00000152558 OTTHUMG00000167326 uc001pha.4 AL050161 NM_052932 CCDS41702 Q8N131 "11481458|24318988|34064525" MGI:1919179 RGD:1305625 606356 HGNC:30138 "ENST00000398136.7|NM_052932.3" HGNC:55502 TMEM123-DT TMEM123 divergent transcript non-coding RNA RNA, long non-coding Approved 11q22.2 11q22.2 Divergent transcripts 1990 2021-03-17 2021-03-17 101928424 ENSG00000255337 NR_135053 HGNC:28275 TMEM125 transmembrane protein 125 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 MGC17299 2006-02-13 2023-01-20 128218 ENSG00000179178 OTTHUMG00000007288 uc021oml.1 BC016858 NM_144626 CCDS480 Q96AQ2 MGI:1923409 RGD:1311937 HGNC:28275 "ENST00000439858.6|NM_144626.3" -HGNC:25382 TMEM126A transmembrane protein 126A protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "DKFZp586C1924|OPA7" Mitochondrial respiratory chain complex assembly factors 645 2006-02-13 2023-01-20 84233 ENSG00000171202 OTTHUMG00000166975 uc001par.4 NM_032273 "CCDS58165|CCDS8268" Q9H061 "11230166|23500070|33879611|33882309" MGI:1913521 RGD:1305677 612988 232171 HGNC:25382 "ENST00000304511.7|NM_032273.4" HGNC:25382 +HGNC:25382 TMEM126A transmembrane protein 126A protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "DKFZp586C1924|OPA7" Mitochondrial respiratory chain complex assembly factors 645 2006-02-13 2023-01-20 84233 ENSG00000171202 OTTHUMG00000166975 uc001par.4 NM_032273 "CCDS8268|CCDS58165" Q9H061 "11230166|23500070|33879611|33882309" MGI:1913521 RGD:1305677 612988 232171 HGNC:25382 "ENST00000304511.7|NM_032273.4" HGNC:25382 HGNC:30883 TMEM126B transmembrane protein 126B protein-coding gene gene with protein product Approved 11q14.1 11q14.1 HT007 Mitochondrial complex I assembly complex 1387 2006-02-13 2023-03-28 55863 ENSG00000171204 OTTHUMG00000166974 uc001pap.5 NM_018480 "CCDS53686|CCDS8267" Q8IUX1 "22982022|36482121" MGI:1915722 RGD:1308371 615533 465924 HGNC:30883 "ENST00000358867.11|NM_018480.7" HGNC:30883 -HGNC:26038 TMEM127 transmembrane protein 127 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "FLJ20507|FLJ22257" 2006-02-13 2023-01-20 55654 ENSG00000135956 OTTHUMG00000130454 uc002svq.4 AK000514 NM_017849 "CCDS2018|CCDS92812" O75204 "10493829|32526160" MGI:1916720 RGD:1309744 LRG_528|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_528.xml TMEM127 613403 227079 HGNC:26038 "ENST00000258439.8|NM_017849.4" HGNC:26038 +HGNC:26038 TMEM127 transmembrane protein 127 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "FLJ20507|FLJ22257" 2006-02-13 2023-01-20 55654 ENSG00000135956 OTTHUMG00000130454 uc002svq.4 AK000514 NM_017849 "CCDS92812|CCDS2018" O75204 "10493829|32526160" MGI:1916720 RGD:1309744 LRG_528|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_528.xml TMEM127 613403 227079 HGNC:26038 "ENST00000258439.8|NM_017849.4" HGNC:26038 HGNC:28201 TMEM128 transmembrane protein 128 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 MGC13159 2006-02-14 2023-01-20 85013 ENSG00000132406 OTTHUMG00000125475 uc003ghr.2 BC007729 NM_032927 "CCDS3373|CCDS75099" Q5BJH2 MGI:1913559 RGD:1310481 HGNC:28201 "ENST00000382753.5|NM_001297551.2" -HGNC:25137 TMEM129 transmembrane protein 129, E3 ubiquitin ligase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 D4S2561E transmembrane protein 129 2006-02-14 2020-03-09 2023-01-20 92305 ENSG00000168936 OTTHUMG00000121150 uc003gdn.4 BC009331 NM_138385 "CCDS46998|CCDS3351" A0AVI4 "24807418|25030448|27854284" MGI:1915616 RGD:1310828 615975 HGNC:25137 "ENST00000382936.8|NM_001127266.2" -HGNC:25429 TMEM130 transmembrane protein 130 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DKFZp761L1417|FLJ42643" 2006-02-20 2023-03-28 222865 ENSG00000166448 OTTHUMG00000154419 uc011kir.3 NM_152913 "CCDS5658|CCDS47649|CCDS47650" Q8N3G9 "12975309|34207849" MGI:3607706 RGD:1563248 HGNC:25429 "ENST00000339375.9|NM_152913.3" +HGNC:25137 TMEM129 transmembrane protein 129, E3 ubiquitin ligase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 D4S2561E transmembrane protein 129 2006-02-14 2020-03-09 2023-01-20 92305 ENSG00000168936 OTTHUMG00000121150 uc003gdn.4 BC009331 NM_138385 "CCDS3351|CCDS46998" A0AVI4 "24807418|25030448|27854284" MGI:1915616 RGD:1310828 615975 HGNC:25137 "ENST00000382936.8|NM_001127266.2" +HGNC:25429 TMEM130 transmembrane protein 130 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DKFZp761L1417|FLJ42643" 2006-02-20 2023-03-28 222865 ENSG00000166448 OTTHUMG00000154419 uc011kir.3 NM_152913 "CCDS47649|CCDS5658|CCDS47650" Q8N3G9 "12975309|34207849" MGI:3607706 RGD:1563248 HGNC:25429 "ENST00000339375.9|NM_152913.3" HGNC:30366 TMEM131 transmembrane protein 131 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "CC28|YR-23|RW1|KIAA0257|PRO1048" 2006-02-24 2023-03-29 23505 ENSG00000075568 OTTHUMG00000153061 uc002syh.5 AK025852 NM_015348 CCDS46368 Q92545 "10996388|32095531" MGI:1927110 RGD:1309266 615659 HGNC:30366 "ENST00000186436.10|NM_015348.2" -HGNC:29146 TMEM131L transmembrane 131 like protein-coding gene gene with protein product Approved 4q31.3 04q31.3 DKFZp586H1322 KIAA0922 KIAA0922 2006-02-24 2017-04-28 2017-04-28 2023-01-20 23240 ENSG00000121210 OTTHUMG00000153244 uc003inm.5 AK096538 NM_015196 "CCDS3783|CCDS47148" A2VDJ0 "23690469|28347816" MGI:2443399 RGD:1583677 616243 HGNC:29146 "ENST00000409959.8|NM_001131007.2" -HGNC:31092 TMEM132A transmembrane protein 132A protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "GBP|FLJ20539" HSPA5BP1 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1 2004-02-04 2006-03-02 2006-03-02 2023-01-20 54972 ENSG00000006118 OTTHUMG00000167803 uc001nqi.4 AK000546 NM_017870 "CCDS44618|CCDS7997" Q24JP5 "12514190|29088312" MGI:2147810 RGD:727936 617363 HGNC:31092 "ENST00000453848.7|NM_178031.3" -HGNC:29397 TMEM132B transmembrane protein 132B protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA1906|KIAA1786" 2006-03-02 2023-01-20 114795 ENSG00000139364 OTTHUMG00000168520 uc001uhe.3 AB067493 NM_052907 "CCDS66501|CCDS91772|CCDS41859" Q14DG7 "11572484|29088312" MGI:3609245 RGD:1566191 620260 HGNC:29397 "ENST00000682704.1|NM_001366854.1" +HGNC:29146 TMEM131L transmembrane 131 like protein-coding gene gene with protein product Approved 4q31.3 04q31.3 DKFZp586H1322 KIAA0922 KIAA0922 2006-02-24 2017-04-28 2017-04-28 2023-01-20 23240 ENSG00000121210 OTTHUMG00000153244 uc003inm.5 AK096538 NM_015196 "CCDS47148|CCDS3783" A2VDJ0 "23690469|28347816" MGI:2443399 RGD:1583677 616243 HGNC:29146 "ENST00000409959.8|NM_001131007.2" +HGNC:31092 TMEM132A transmembrane protein 132A protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "GBP|FLJ20539" HSPA5BP1 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1 2004-02-04 2006-03-02 2006-03-02 2023-01-20 54972 ENSG00000006118 OTTHUMG00000167803 uc001nqi.4 AK000546 NM_017870 "CCDS7997|CCDS44618" Q24JP5 "12514190|29088312" MGI:2147810 RGD:727936 617363 HGNC:31092 "ENST00000453848.7|NM_178031.3" +HGNC:29397 TMEM132B transmembrane protein 132B protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA1906|KIAA1786" 2006-03-02 2023-01-20 114795 ENSG00000139364 OTTHUMG00000168520 uc001uhe.3 AB067493 NM_052907 "CCDS41859|CCDS66501|CCDS91772" Q14DG7 "11572484|29088312" MGI:3609245 RGD:1566191 620260 HGNC:29397 "ENST00000682704.1|NM_001366854.1" HGNC:25436 TMEM132C transmembrane protein 132C protein-coding gene gene with protein product Approved 12q24.32 12q24.32 "DKFZp761O2018|PPP1R152" protein phosphatase 1, regulatory subunit 152 "Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "694|1691" 2006-03-02 2023-01-20 92293 ENSG00000181234 OTTHUMG00000163736 uc021rgn.1 AK126715 NM_001136103 CCDS45009 Q8N3T6 29088312 MGI:2443061 RGD:1583824 HGNC:25436 "ENST00000435159.3|NM_001136103.3" HGNC:29411 TMEM132D transmembrane protein 132D protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "KIAA1944|MOLT|PPP1R153" protein phosphatase 1, regulatory subunit 153 Protein phosphatase 1 regulatory subunits 694 2006-03-02 2023-01-20 121256 ENSG00000151952 OTTHUMG00000168400 uc009zyl.2 AB061814 NM_133448 CCDS9266 Q14C87 "12966072|29088312|29317594" MGI:3044963 RGD:735062 611257 HGNC:29411 "ENST00000422113.7|NM_133448.3" HGNC:29411 HGNC:27466 TMEM132D-AS1 TMEM132D antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 "LOC283352|RP11-669N7.2" Antisense RNAs 1987 2017-03-10 2019-08-08 283352 ENSG00000249196 OTTHUMG00000168401 NR_104172 "28265570|31368349" HGNC:27466 HGNC:53324 TMEM132D-AS2 TMEM132D antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Antisense RNAs 1987 2017-03-22 2017-03-22 101927735 ENSG00000256699 OTTHUMG00000168402 NR_110058 HGNC:53324 HGNC:26991 TMEM132E transmembrane protein 132E protein-coding gene gene with protein product Approved 17q12 17q12 DFNB99 2006-03-02 2023-01-20 124842 ENSG00000181291 OTTHUMG00000132927 uc284oib.1 BN000149 NM_207313 CCDS11283 Q6IEE7 "25331638|29088312" MGI:2685490 RGD:1565522 616178 476287 HGNC:26991 "ENST00000631683.2|NM_001304438.2" HGNC:26991 HGNC:34412 TMEM132E-DT TMEM132E divergent transcript non-coding RNA RNA, long non-coding Approved 17q12 17q12 FLJ44815 C17orf102 chromosome 17 open reading frame 102 Divergent transcripts 1990 2009-01-30 2021-02-22 2021-02-22 2023-03-15 400591 ENSG00000197322 OTTHUMG00000156883 uc002hie.2 NR_160787 A2RUQ5 RGD:9084586 HGNC:34412 -HGNC:26142 TMEM134 transmembrane protein 134 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ21749 2006-03-09 2023-03-29 80194 ENSG00000172663 OTTHUMG00000168034 uc001olq.3 AK025402 NM_025124 "CCDS41678|CCDS8167" Q9H6X4 "22855487|27899274" MGI:1914240 RGD:1305824 HGNC:26142 "ENST00000308022.7|NM_025124.4" -HGNC:26167 TMEM135 transmembrane protein 135 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 FLJ22104 Tim17 family 1857 2006-03-09 2023-03-29 65084 ENSG00000166575 OTTHUMG00000167248 uc001pch.4 BX648678 NM_022918 "CCDS53692|CCDS8280" Q86UB9 "21151927|27760563|32157776" MGI:1920009 RGD:1309948 616360 HGNC:26167 "ENST00000305494.6|NM_022918.4" -HGNC:26944 TMEM138 transmembrane protein 138 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "HSPC196|JBTS16" 2006-03-15 2023-03-28 51524 ENSG00000149483 OTTHUMG00000168145 uc001nrl.3 AF151030 NM_016464 "CCDS91482|CCDS81569|CCDS8005|CCDS91484|CCDS91483" Q9NPI0 "22936720|26982032|35394880" MGI:1920232 RGD:735168 614459 292990 HGNC:26944 "ENST00000278826.11|NM_016464.5" HGNC:26944 +HGNC:26142 TMEM134 transmembrane protein 134 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ21749 2006-03-09 2023-03-29 80194 ENSG00000172663 OTTHUMG00000168034 uc001olq.3 AK025402 NM_025124 "CCDS8167|CCDS41678" Q9H6X4 "22855487|27899274" MGI:1914240 RGD:1305824 HGNC:26142 "ENST00000308022.7|NM_025124.4" +HGNC:26167 TMEM135 transmembrane protein 135 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 FLJ22104 Tim17 family 1857 2006-03-09 2023-03-29 65084 ENSG00000166575 OTTHUMG00000167248 uc001pch.4 BX648678 NM_022918 "CCDS8280|CCDS53692" Q86UB9 "21151927|27760563|32157776" MGI:1920009 RGD:1309948 616360 HGNC:26167 "ENST00000305494.6|NM_022918.4" +HGNC:26944 TMEM138 transmembrane protein 138 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "HSPC196|JBTS16" 2006-03-15 2023-03-28 51524 ENSG00000149483 OTTHUMG00000168145 uc001nrl.3 AF151030 NM_016464 "CCDS81569|CCDS91483|CCDS91484|CCDS91482|CCDS8005" Q9NPI0 "22936720|26982032|35394880" MGI:1920232 RGD:735168 614459 292990 HGNC:26944 "ENST00000278826.11|NM_016464.5" HGNC:26944 HGNC:22058 TMEM139 transmembrane protein 139 protein-coding gene gene with protein product Approved 7q34 07q34 FLJ90586 2006-03-17 2023-03-29 135932 ENSG00000178826 OTTHUMG00000152652 uc064iuz.1 AK075067 NM_153345 CCDS5878 Q8IV31 26049106 MGI:1924444 RGD:1594187 616524 HGNC:22058 "ENST00000359333.8|NM_001282876.2" HGNC:40988 TMEM139-AS1 TMEM139 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q34 07q34 Antisense RNAs 1987 2020-03-30 2020-03-30 105375545 ENSG00000231840 OTTHUMG00000152673 NR_133932 HGNC:21870 TMEM140 transmembrane protein 140 protein-coding gene gene with protein product Approved 7q33 07q33 FLJ11000 2006-03-17 2023-03-29 55281 ENSG00000146859 OTTHUMG00000155413 uc003vsi.4 AK001862 NM_018295 CCDS5837 Q9NV12 25036476 MGI:1915737 RGD:1549759 HGNC:21870 "ENST00000275767.3|NM_018295.5" HGNC:28211 TMEM141 transmembrane protein 141 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC14141 2006-03-21 2023-01-20 85014 ENSG00000244187 OTTHUMG00000020945 uc004cje.5 BC007834 NM_032928 CCDS7007 Q96I45 MGI:1098773 RGD:1561492 HGNC:28211 "ENST00000290079.9|NM_032928.4" -HGNC:25603 TMEM143 transmembrane protein 143 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ10922 2006-03-24 2023-01-20 55260 ENSG00000161558 OTTHUMG00000183197 uc002pix.2 AK129801 NM_018273 "CCDS77325|CCDS77326|CCDS12716" Q96AN5 12975309 MGI:1917459 RGD:1305013 HGNC:25603 "ENST00000293261.8|NM_018273.4" +HGNC:25603 TMEM143 transmembrane protein 143 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ10922 2006-03-24 2023-01-20 55260 ENSG00000161558 OTTHUMG00000183197 uc002pix.2 AK129801 NM_018273 "CCDS77326|CCDS77325|CCDS12716" Q96AN5 12975309 MGI:1917459 RGD:1305013 HGNC:25603 "ENST00000293261.8|NM_018273.4" HGNC:25633 TMEM144 transmembrane protein 144 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "FLJ11155|SLC35G7" 2006-03-24 2023-03-27 55314 ENSG00000164124 OTTHUMG00000162013 uc003ipx.4 AK002017 NM_018342 CCDS3799 Q7Z5S9 21527035 MGI:1917902 RGD:1565845 620325 HGNC:25633 "ENST00000296529.11|NM_018342.5" HGNC:26912 TMEM145 transmembrane protein 145 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ90805 2006-03-24 2023-03-30 284339 ENSG00000167619 OTTHUMG00000177694 uc002otk.2 AK075286 NM_173633 "CCDS92635|CCDS12603" Q8NBT3 36373655 MGI:3607779 RGD:1595911 HGNC:26912 "ENST00000301204.8|NM_173633.3" -HGNC:30414 TMEM147 transmembrane protein 147 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "NIFIE14|MGC1936" 2006-03-31 2023-01-20 10430 ENSG00000105677 OTTHUMG00000048105 uc002oaj.3 BC001118 NM_032635 "CCDS56091|CCDS12466" Q9BVK8 "20538592|34638576" MGI:1915011 RGD:1304706 613585 HGNC:30414 "ENST00000222284.10|NM_032635.4" HGNC:30414 +HGNC:30414 TMEM147 transmembrane protein 147 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "NIFIE14|MGC1936" 2006-03-31 2023-01-20 10430 ENSG00000105677 OTTHUMG00000048105 uc002oaj.3 BC001118 NM_032635 "CCDS12466|CCDS56091" Q9BVK8 "20538592|34638576" MGI:1915011 RGD:1304706 613585 HGNC:30414 "ENST00000222284.10|NM_032635.4" HGNC:30414 HGNC:51273 TMEM147-AS1 TMEM147 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Antisense RNAs 1987 2014-08-22 2014-08-22 100506469 ENSG00000236144 OTTHUMG00000048104 CR627053 NR_038396 TMEM147-AS1 HGNC:51273 -HGNC:24677 TMEM150A transmembrane protein 150A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "TM6P1|FLJ90024|TTN1" tentonin 1 TMEM150 transmembrane protein 150 2006-05-08 2009-06-12 2009-06-12 2023-01-20 129303 ENSG00000168890 OTTHUMG00000130168 uc002spy.3 AK098152 NM_153342 "CCDS33233|CCDS1982" Q86TG1 "10858565|27321926" MGI:2385244 RGD:619998 616757 HGNC:24677 "ENST00000334462.10|NM_001031738.3" +HGNC:24677 TMEM150A transmembrane protein 150A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "TM6P1|FLJ90024|TTN1" tentonin 1 TMEM150 transmembrane protein 150 2006-05-08 2009-06-12 2009-06-12 2023-01-20 129303 ENSG00000168890 OTTHUMG00000130168 uc002spy.3 AK098152 NM_153342 "CCDS1982|CCDS33233" Q86TG1 "10858565|27321926" MGI:2385244 RGD:619998 616757 HGNC:24677 "ENST00000334462.10|NM_001031738.3" HGNC:34415 TMEM150B transmembrane protein 150B protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "TTN2|DRAM3" "tentonin 2|DRAM-Related/Associated Member 3" TMEM224 transmembrane protein 224 2009-02-24 2009-06-12 2009-06-12 2023-01-20 284417 ENSG00000180061 OTTHUMG00000180709 uc010yfu.3 BC020862 NM_001085488 CCDS42629 A6NC51 "27321926|27046253" MGI:2679718 RGD:1306181 617291 HGNC:34415 "ENST00000326652.9|NM_001282011.2" HGNC:37263 TMEM150C transmembrane protein 150C protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "FLJ12993|TTN3" tentonin 3 2009-09-09 2023-01-20 441027 ENSG00000249242 OTTHUMG00000161083 uc011ccj.2 BC147027 NM_001080506 CCDS47087 B9EJG8 27321926 MGI:3041258 RGD:1306105 617292 HGNC:37263 "ENST00000449862.7|NM_001080506.3" HGNC:28497 TMEM151A transmembrane protein 151A protein-coding gene gene with protein product Approved 11q13.2 11q13.2 MGC33486 TMEM151 transmembrane protein 151 2006-05-10 2007-10-25 2007-10-25 2023-01-20 256472 ENSG00000179292 OTTHUMG00000166920 uc001ohl.4 BC033898 NM_153266 CCDS8133 Q8N4L1 "34518509|34820915" MGI:2147713 RGD:1310680 620108 HGNC:28497 "ENST00000327259.5|NM_153266.4" @@ -39081,12 +39084,12 @@ HGNC:26489 TMEM154 transmembrane protein 154 protein-coding gene gene with prote HGNC:26260 TMEM156 transmembrane protein 156 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ23235 2006-05-22 2023-03-30 80008 ENSG00000121895 OTTHUMG00000128582 uc003gto.4 AK026888 NM_024943 CCDS3448 Q8N614 33853401 MGI:2685292 RGD:1562424 HGNC:26260 "ENST00000381938.4|NM_024943.3" HGNC:30293 TMEM158 transmembrane protein 158 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "RIS1|p40BBp" Ras induced senescence 1 transmembrane protein 158 (gene/pseudogene) 2006-07-11 2020-05-01 2023-03-30 25907 ENSG00000249992 OTTHUMG00000160317 uc011baf.3 AF438313 NM_015444 CCDS54573 Q8WZ71 "11399754|11822868|33428142" MGI:1919559 RGD:708473 620257 HGNC:30293 "ENST00000503771.2|NM_015444.3" HGNC:26042 TMEM160 transmembrane protein 160 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ20512 2006-06-19 2023-03-30 54958 ENSG00000130748 OTTHUMG00000183441 uc002pfz.4 AK000519 NM_017854 CCDS12695 Q9NX00 36217717 MGI:1916344 RGD:1564549 620258 HGNC:26042 "ENST00000253047.7|NM_017854.2" -HGNC:26020 TMEM161A transmembrane protein 161A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ39645|FLJ20422" 2006-06-21 2023-01-20 54929 ENSG00000064545 OTTHUMG00000182217 uc002nlg.5 BC005210 NM_017814 "CCDS92570|CCDS12393|CCDS58656" Q9NX61 12975309 MGI:2384577 RGD:1307703 618966 HGNC:26020 "ENST00000162044.14|NM_017814.3" -HGNC:28483 TMEM161B transmembrane protein 161B protein-coding gene gene with protein product Approved 5q14.3 05q14.3 MGC33214 2006-06-21 2023-03-27 153396 ENSG00000164180 OTTHUMG00000131323 uc003kjc.5 BC037287 NM_153354 "CCDS75269|CCDS4065|CCDS75270" Q8NDZ6 "33597309|36669109" MGI:1919995 RGD:1309660 HGNC:28483 "ENST00000296595.11|NM_153354.5" +HGNC:26020 TMEM161A transmembrane protein 161A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ39645|FLJ20422" 2006-06-21 2023-01-20 54929 ENSG00000064545 OTTHUMG00000182217 uc002nlg.5 BC005210 NM_017814 "CCDS58656|CCDS12393|CCDS92570" Q9NX61 12975309 MGI:2384577 RGD:1307703 618966 HGNC:26020 "ENST00000162044.14|NM_017814.3" +HGNC:28483 TMEM161B transmembrane protein 161B protein-coding gene gene with protein product Approved 5q14.3 05q14.3 MGC33214 2006-06-21 2023-03-27 153396 ENSG00000164180 OTTHUMG00000131323 uc003kjc.5 BC037287 NM_153354 "CCDS4065|CCDS75269|CCDS75270" Q8NDZ6 "33597309|36669109" MGI:1919995 RGD:1309660 HGNC:28483 "ENST00000296595.11|NM_153354.5" HGNC:43839 TMEM161B-DT TMEM161B divergent transcript non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 linc-POLR3G-8 TMEM161B-AS1 "TMEM161B antisense RNA 1 (non-protein coding)|TMEM161B antisense RNA 1" Divergent transcripts 1990 2012-03-26 2021-04-26 2021-04-26 2021-04-26 100505894 ENSG00000247828 OTTHUMG00000162704 uc003kje.5 AK082072 NR_039993 21890647 AK082072 TMEM161B-AS1 HGNC:43839 HGNC:44973 TMEM161BP1 transmembrane protein 161B pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 2012-12-20 2012-12-20 646360 ENSG00000237970 OTTHUMG00000017972 NG_022901 PGOHUM00000251264 HGNC:44973 HGNC:25380 TMEM163 transmembrane protein 163 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "DKFZP566N034|SV31" 2006-07-04 2023-03-27 81615 ENSG00000152128 OTTHUMG00000131713 uc002ttx.4 NM_030923 CCDS2172 Q8TC26 "17623043|28199205|36204728" MGI:1919410 RGD:1306212 618978 HGNC:25380 "ENST00000281924.6|NM_030923.5" -HGNC:26217 TMEM164 transmembrane protein 164 protein-coding gene gene with protein product Approved Xq23 Xq23 "FLJ22679|RP13-360B22.2" MicroRNA protein coding host genes 1691 2006-07-11 2023-03-27 84187 ENSG00000157600 OTTHUMG00000022192 uc065arn.1 AK094127 NM_032227 "CCDS94649|CCDS14550|CCDS55475" Q5U3C3 "30737907|36782012" MGI:2148020 RGD:1563286 HGNC:26217 "ENST00000372068.7|NM_032227.4" +HGNC:26217 TMEM164 transmembrane protein 164 protein-coding gene gene with protein product Approved Xq23 Xq23 "FLJ22679|RP13-360B22.2" MicroRNA protein coding host genes 1691 2006-07-11 2023-03-27 84187 ENSG00000157600 OTTHUMG00000022192 uc065arn.1 AK094127 NM_032227 "CCDS14550|CCDS55475|CCDS94649" Q5U3C3 "30737907|36782012" MGI:2148020 RGD:1563286 HGNC:26217 "ENST00000372068.7|NM_032227.4" HGNC:30760 TMEM165 transmembrane protein 165 protein-coding gene gene with protein product Approved 4q12 04q12 "TMPT27|TPARL|GDT1|SLC64A1" TPA regulated locus Solute carrier family 64 2213 2006-07-17 2023-03-14 55858 ENSG00000134851 OTTHUMG00000128735 uc003hax.4 AF183409 NM_018475 CCDS3499 Q9HC07 "3202867|22683087|23575229" MGI:894407 RGD:1306983 614726 SLC64A1 317781 objectId:3050 HGNC:30760 "ENST00000381334.10|NM_018475.5" HGNC:30760 HGNC:28330 TMEM167A transmembrane protein 167A protein-coding gene gene with protein product Approved 5q14.2 05q14.2 "FLJ30508|MGC23909|kish" TMEM167 transmembrane protein 167 2006-08-07 2008-06-06 2008-06-06 2023-03-30 153339 ENSG00000174695 OTTHUMG00000162570 uc003khx.5 "BC107575|AK055070" NM_174909 CCDS34198 Q8TBQ9 30506943 MGI:1913324 RGD:2323318 620000 HGNC:28330 "ENST00000502346.2|NM_174909.5" HGNC:28330 HGNC:23956 TMEM167AP1 transmembrane protein 167A pseudogene 1 pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-02-11 2016-10-05 360028 ENSG00000226504 OTTHUMG00000036541 NG_002949 12815422 PGOHUM00000233792 HGNC:23956 @@ -39095,11 +39098,11 @@ HGNC:30187 TMEM167B transmembrane protein 167B protein-coding gene gene with pro HGNC:55076 TMEM167B-DT TMEM167B divergent transcript non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Divergent transcripts 1990 2020-06-12 2020-06-12 105378892 ENSG00000273382 XR_007066295 HGNC:25826 TMEM168 transmembrane protein 168 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "DKFZp564C012|FLJ13576" 2006-08-08 2023-01-20 64418 ENSG00000146802 OTTHUMG00000155188 uc003vgn.5 NM_022484 CCDS5757 Q9H0V1 "30940290|32175648" MGI:1921794 RGD:1307778 HGNC:25826 "ENST00000312814.11|NM_022484.6" HGNC:25130 TMEM169 transmembrane protein 169 protein-coding gene gene with protein product Approved 2q35 02q35 FLJ34263 2006-08-15 2023-01-20 92691 ENSG00000163449 OTTHUMG00000133053 uc010zjr.3 AK091582 NM_138390 CCDS2401 Q96HH4 12477932 MGI:2442781 RGD:1582820 HGNC:25130 "ENST00000437356.7|NM_001142311.2" -HGNC:29577 TMEM170A transmembrane protein 170A protein-coding gene gene with protein product Approved 16q23.1 16q23.1 FLJ37611 TMEM170 transmembrane protein 170 2006-08-17 2008-06-10 2008-06-10 2023-01-20 124491 ENSG00000166822 OTTHUMG00000137614 uc002fee.2 BX648484 NM_145254 "CCDS76901|CCDS76900|CCDS10917|CCDS76899" Q8WVE7 26906412 MGI:106426 RGD:1559505 HGNC:29577 "ENST00000561878.2|NM_145254.3" +HGNC:29577 TMEM170A transmembrane protein 170A protein-coding gene gene with protein product Approved 16q23.1 16q23.1 FLJ37611 TMEM170 transmembrane protein 170 2006-08-17 2008-06-10 2008-06-10 2023-01-20 124491 ENSG00000166822 OTTHUMG00000137614 uc002fee.2 BX648484 NM_145254 "CCDS10917|CCDS76899|CCDS76901|CCDS76900" Q8WVE7 26906412 MGI:106426 RGD:1559505 HGNC:29577 "ENST00000561878.2|NM_145254.3" HGNC:34244 TMEM170B transmembrane protein 170B protein-coding gene gene with protein product Approved 6p24.2 06p24.2 2008-06-10 2023-03-30 100113407 ENSG00000205269 OTTHUMG00000014259 uc010jpa.5 NM_001100829 CCDS43425 Q5T4T1 29367600 MGI:3647046 RGD:1561506 HGNC:34244 "ENST00000379426.2|NM_001100829.3" -HGNC:27031 TMEM171 transmembrane protein 171 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 PRP2 2006-08-18 2023-01-20 134285 ENSG00000157111 OTTHUMG00000131269 uc003kcm.3 BC018083 NM_173490 "CCDS54869|CCDS4017" Q8WVE6 12477932 MGI:2685751 RGD:1359492 HGNC:27031 "ENST00000454765.7|NM_173490.8" +HGNC:27031 TMEM171 transmembrane protein 171 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 PRP2 2006-08-18 2023-01-20 134285 ENSG00000157111 OTTHUMG00000131269 uc003kcm.3 BC018083 NM_173490 "CCDS4017|CCDS54869" Q8WVE6 12477932 MGI:2685751 RGD:1359492 HGNC:27031 "ENST00000454765.7|NM_173490.8" HGNC:28187 TMEM174 transmembrane protein 174 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "MGC13034|FLJ31268" 2006-08-25 2023-01-20 134288 ENSG00000164325 OTTHUMG00000131268 uc010izc.4 BC019346 NM_153217 CCDS4018 Q8WUU8 "20331980|35428804" MGI:1915594 RGD:1561129 614909 HGNC:28187 "ENST00000296776.6|NM_153217.3" -HGNC:28709 TMEM175 transmembrane protein 175 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 MGC4618 2006-08-29 2023-01-20 84286 ENSG00000127419 OTTHUMG00000118996 uc003gbq.4 BC005158 NM_032326 "CCDS75087|CCDS75088|CCDS3341" Q9BSA9 "26317472|28723891" MGI:1919642 RGD:1309712 616660 HGNC:28709 "ENST00000264771.9|NM_032326.4" +HGNC:28709 TMEM175 transmembrane protein 175 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 MGC4618 2006-08-29 2023-01-20 84286 ENSG00000127419 OTTHUMG00000118996 uc003gbq.4 BC005158 NM_032326 "CCDS75087|CCDS3341|CCDS75088" Q9BSA9 "26317472|28723891" MGI:1919642 RGD:1309712 616660 HGNC:28709 "ENST00000264771.9|NM_032326.4" HGNC:24930 TMEM176A transmembrane protein 176A protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HCA112|MS4B1" Membrane spanning 4-domains 958 2006-09-04 2023-03-27 55365 ENSG00000002933 OTTHUMG00000158114 uc064jeh.1 AF258340 NM_018487 CCDS5909 Q96HP8 "12097419|8889548|27009467|31354034" MGI:1913308 RGD:1310725 610334 HGNC:24930 "ENST00000004103.8|NM_018487.3" HGNC:29596 TMEM176B transmembrane protein 176B protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "LR8|MS4B2" Membrane spanning 4-domains 958 2006-09-04 2023-03-27 28959 ENSG00000106565 OTTHUMG00000157577 uc003whw.5 AF115384 NM_014020 "CCDS5908|CCDS47746" Q3YBM2 "9922225|27009467|36340035" MGI:1916348 RGD:708403 610385 HGNC:29596 "ENST00000326442.10|NM_001101312.2" HGNC:28143 TMEM177 transmembrane protein 177 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 MGC10993 Mitochondrial respiratory chain complex assembly factors 645 2006-09-08 2023-01-20 80775 ENSG00000144120 OTTHUMG00000153312 uc010flg.1 BC004404 NM_030577 CCDS2128 Q53S58 29154948 MGI:1913593 RGD:1310320 HGNC:28143 "ENST00000272521.7|NM_030577.3" @@ -39108,7 +39111,7 @@ HGNC:44112 TMEM178B transmembrane protein 178B protein-coding gene gene with pro HGNC:20137 TMEM179 transmembrane protein 179 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "FLJ42486|TMEM179A" C14orf90 chromosome 14 open reading frame 90 2002-12-18 2006-10-16 2006-10-16 2023-03-30 388021 ENSG00000258986 OTTHUMG00000170829 uc032bmk.2 AK124477 NM_207379 "CCDS66723|CCDS73688" Q6ZVK1 34332247 MGI:2144891 RGD:1310269 HGNC:20137 "ENST00000556573.6|NM_001286389.2" HGNC:33744 TMEM179B transmembrane protein 179B protein-coding gene gene with protein product Approved 11q12.3 11q12.3 MicroRNA protein coding host genes 1691 2007-11-26 2023-01-20 374395 ENSG00000185475 OTTHUMG00000167611 uc001nvd.5 BC051355 NM_199337 "CCDS8036|CCDS91494" Q7Z7N9 MGI:1914956 RGD:1582850 HGNC:33744 "ENST00000333449.9|NM_199337.3" HGNC:20958 TMEM181 transmembrane protein 181 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "KIAA1423|GPR178" "G protein-coupled receptor 178|KIAA1423" MicroRNA protein coding host genes 1691 2003-11-21 2006-10-19 2006-10-19 2023-03-30 57583 ENSG00000146433 OTTHUMG00000015913 uc003qrm.5 AB037844 NM_020823 "CCDS94026|CCDS43520" Q9P2C4 "16452613|35577237|36373655" MGI:1924356 RGD:1566403 613209 HGNC:20958 "ENST00000684151.1|NM_001376852.1" -HGNC:26391 TMEM182 transmembrane protein 182 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 FLJ30294 2006-10-26 2023-03-30 130827 ENSG00000170417 OTTHUMG00000130779 uc002tcc.5 AK054856 NM_144632 "CCDS92825|CCDS82490|CCDS82489|CCDS2064" Q6ZP80 "18803820|30893332" MGI:1923725 RGD:1563696 HGNC:26391 "ENST00000412401.3|NM_144632.5" +HGNC:26391 TMEM182 transmembrane protein 182 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 FLJ30294 2006-10-26 2023-03-30 130827 ENSG00000170417 OTTHUMG00000130779 uc002tcc.5 AK054856 NM_144632 "CCDS82490|CCDS92825|CCDS82489|CCDS2064" Q6ZP80 "18803820|30893332" MGI:1923725 RGD:1563696 HGNC:26391 "ENST00000412401.3|NM_144632.5" HGNC:20173 TMEM183A transmembrane protein 183A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 C1orf37 chromosome 1 open reading frame 37 2002-12-19 2006-12-18 2006-12-18 2023-01-20 92703 ENSG00000163444 OTTHUMG00000042051 uc001gyu.2 BC013073 NM_138391 CCDS1432 Q8IXX5 MGI:1914729 RGD:1309892 HGNC:20173 "ENST00000367242.4|NM_138391.6" HGNC:33458 TMEM183AP1 TMEM183A pseudogene 1 pseudogene pseudogene Approved 6p21.3 06p21.3 "BPG126D10.10|OTTHUMG00000086663" transmembrane protein 183A pseudogene 1 2007-05-01 2022-10-19 2022-10-19 100048909 ENSG00000227609 OTTHUMG00000086663 NG_031894 HGNC:33458 HGNC:56453 TMEM183AP2 TMEM183A pseudogene 2 pseudogene pseudogene Approved 5p13.3 05p13.3 2022-10-19 2022-10-19 646616 ENSG00000249142 NG_005564 PGOHUM00000300915 @@ -39123,7 +39126,7 @@ HGNC:56716 TMEM184B-AS1 TMEM184B antisense RNA 1 non-coding RNA RNA, long non-co HGNC:25587 TMEM184C transmembrane protein 184C protein-coding gene gene with protein product Approved 4q31.23 04q31.23 FLJ10846 TMEM34 transmembrane protein 34 2004-07-28 2008-06-05 2008-06-05 2023-01-20 55751 ENSG00000164168 OTTHUMG00000161358 uc003ila.5 AF305823 NM_018241 CCDS3770 Q9NVA4 MGI:2384562 RGD:727852 613937 HGNC:25587 "ENST00000296582.8|NM_018241.3" HGNC:55544 TMEM184C-DT TMEM184C divergent transcript non-coding RNA RNA, long non-coding Approved 4q31.23 04q31.23 loc105377478 Divergent transcripts 1990 2021-03-24 2023-01-20 121009648 ENSG00000251298 XR_007058316 33396129 HGNC:55010 TMEM184CP1 TMEM184C pseudogene 1 pseudogene pseudogene Approved Xq21.31 Xq21.31 2020-05-21 2020-05-21 100129133 ENSG00000230706 NG_022617 -HGNC:17125 TMEM185A transmembrane protein 185A protein-coding gene gene with protein product Approved Xq28 Xq28 "CXorf13|FAM11A|FRAXF" "chromosome X open reading frame 13|family with sequence similarity 11, member A|fragile site, folic acid type, rare, fra(X)(q28) F" 2001-11-20 2007-02-05 2007-02-05 2023-01-20 84548 ENSG00000269556 OTTHUMG00000022625 uc033ezr.1 AF353675 NM_032508 "CCDS76041|CCDS55523|CCDS14689" Q8NFB2 12404111 MGI:2448555 RGD:1563037 300031 172996 HGNC:17125 "ENST00000600449.8|NM_032508.4" +HGNC:17125 TMEM185A transmembrane protein 185A protein-coding gene gene with protein product Approved Xq28 Xq28 "CXorf13|FAM11A|FRAXF" "chromosome X open reading frame 13|family with sequence similarity 11, member A|fragile site, folic acid type, rare, fra(X)(q28) F" 2001-11-20 2007-02-05 2007-02-05 2023-01-20 84548 ENSG00000269556 OTTHUMG00000022625 uc033ezr.1 AF353675 NM_032508 "CCDS76041|CCDS14689|CCDS55523" Q8NFB2 12404111 MGI:2448555 RGD:1563037 300031 172996 HGNC:17125 "ENST00000600449.8|NM_032508.4" HGNC:31717 TMEM185AP1 transmembrane protein 185A pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 TMEM185AL "family with sequence similarity 11, member C|transmembrane protein 185A-like" 2005-03-22 2012-04-20 2012-04-20 2020-04-20 100506205 ENSG00000235254 OTTHUMG00000022629 NG_029343 PGOHUM00000257277 HGNC:31717 HGNC:18896 TMEM185B transmembrane protein 185B protein-coding gene gene with protein product Approved 2q14.2 02q14.2 FLJ20979 FAM11B "family with sequence similarity 11, member B|transmembrane protein 185B (pseudogene)" 2004-01-06 2007-02-05 2011-05-27 2023-01-20 79134 ENSG00000226479 OTTHUMG00000154402 uc002tmj.3 AK024632 NM_024121.2 CCDS58722 Q9H7F4 12404111 MGI:1917634 RGD:1309602 HGNC:18896 "ENST00000426077.3|NM_024121.3" HGNC:24530 TMEM186 transmembrane protein 186 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 DKFZP564K2062 C16orf51 chromosome 16 open reading frame 51 "Mitochondrial respiratory chain complex assembly factors|Mitochondrial complex I assembly complex" "645|1387" 2005-03-10 2007-02-08 2007-02-08 2023-01-20 25880 ENSG00000184857 OTTHUMG00000129696 uc002cze.3 BC015912 NM_015421 CCDS10535 Q96B77 32320651 MGI:1913940 RGD:1561167 HGNC:24530 "ENST00000333050.7|NM_015421.4" @@ -39131,16 +39134,16 @@ HGNC:13705 TMEM187 transmembrane protein 187 protein-coding gene gene with prote HGNC:29632 TMEM190 transmembrane protein 190 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MDAC1 2007-07-31 2023-01-20 147744 ENSG00000160472 OTTHUMG00000180794 uc002qkt.1 AF442729 NM_139172 CCDS33113 Q8WZ59 21273369 MGI:1925302 RGD:1583927 HGNC:29632 "ENST00000291934.4|NM_139172.3" HGNC:25317 TMEM191A transmembrane protein 191A (pseudogene) pseudogene pseudogene Approved 22q11.21 22q11.21 "DKFZp434N035|TMEM191AP" transmembrane protein 191A 2007-08-14 2012-04-20 2023-03-15 84222 ENSG00000226287 OTTHUMG00000150164 uc002zsx.2 AL136879 NR_026815 Q9H0A3 11230166 HGNC:25317 HGNC:33600 TMEM191B transmembrane protein 191B protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2007-08-14 2023-01-20 728229 ENSG00000278558 OTTHUMG00000188353 uc021wlv.2 NM_001242313 CCDS74816 P0C7N4 MGI:107238 HGNC:33600 "ENST00000612978.5|NM_001242313.1" -HGNC:33601 TMEM191C transmembrane protein 191C protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2007-08-14 2023-01-20 645426 ENSG00000206140 OTTHUMG00000150780 uc002zuu.3 NM_001207052 "CCDS82695|CCDS93125" A6NGB0 MGI:107238 RGD:1587016 HGNC:33601 "ENST00000536718.3|NM_001388354.1" +HGNC:33601 TMEM191C transmembrane protein 191C protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2007-08-14 2023-01-20 645426 ENSG00000206140 OTTHUMG00000150780 uc002zuu.3 NM_001207052 "CCDS93125|CCDS82695" A6NGB0 MGI:107238 RGD:1587016 HGNC:33601 "ENST00000536718.3|NM_001388354.1" HGNC:26775 TMEM192 transmembrane protein 192 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 FLJ38482 2007-10-25 2023-01-20 201931 ENSG00000170088 OTTHUMG00000161254 uc003iqz.5 BC036301 NM_152681 CCDS43279 Q8IY95 "20370317|21143193" MGI:1920317 RGD:1309341 HGNC:26775 "ENST00000306480.11|NM_001100389.2" -HGNC:22431 TMEM196 transmembrane protein 196 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 MGC42090 2007-11-21 2023-03-30 256130 ENSG00000173452 OTTHUMG00000152504 uc011jyg.3 NM_152774 "CCDS34607|CCDS94061|CCDS94060|CCDS87484" Q5HYL7 36355209 MGI:2685374 RGD:1562527 HGNC:22431 "ENST00000405844.6|NM_001363562.2" +HGNC:22431 TMEM196 transmembrane protein 196 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 MGC42090 2007-11-21 2023-03-30 256130 ENSG00000173452 OTTHUMG00000152504 uc011jyg.3 NM_152774 "CCDS94061|CCDS94060|CCDS34607|CCDS87484" Q5HYL7 36355209 MGI:2685374 RGD:1562527 HGNC:22431 "ENST00000405844.6|NM_001363562.2" HGNC:33704 TMEM198 transmembrane protein 198 protein-coding gene gene with protein product Approved 2q35 02q35 "MGC99813|TMEM198A" 2007-12-17 2023-03-30 130612 ENSG00000188760 OTTHUMG00000059156 uc002vme.5 BC068567 NM_001005209 CCDS33385 Q66K66 21536646 MGI:2443133 RGD:2319152 HGNC:33704 "ENST00000373883.4|NM_001005209.3" HGNC:43629 TMEM198B transmembrane protein 198B (pseudogene) pseudogene pseudogene Approved 12q13.2 12q13.2 transmembrane protein 198, pseudogene 2011-12-06 2016-01-06 2016-01-06 440104 ENSG00000182796 OTTHUMG00000154568 NR_036476 MGI:1921077 HGNC:43629 HGNC:18085 TMEM199 transmembrane protein 199 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "MGC45714|VPH2|VMA12" C17orf32 chromosome 17 open reading frame 32 MicroRNA protein coding host genes 1691 2002-01-30 2007-12-17 2007-12-17 2023-03-30 147007 ENSG00000244045 OTTHUMG00000132498 uc002hba.4 AY074907 NM_152464 CCDS11228 Q8N511 "26833330|28296633|34626841" MGI:2144113 RGD:1566425 616815 471234 HGNC:18085 "ENST00000292114.8|NM_152464.3" HGNC:18085 HGNC:21075 TMEM200A transmembrane protein 200A protein-coding gene gene with protein product Approved 6q23.1 06q23.1 TTMC KIAA1913 KIAA1913 2003-11-21 2007-12-18 2007-12-18 2023-03-30 114801 ENSG00000164484 OTTHUMG00000015557 uc003qca.5 AB067500 NM_052913 CCDS5140 Q86VY9 "15722956|36741965" MGI:1924470 RGD:1564024 HGNC:21075 "ENST00000296978.4|NM_001258277.2" HGNC:33785 TMEM200B transmembrane protein 200B protein-coding gene gene with protein product Approved 1p35.3 01p35.3 TTMB 2007-12-18 2023-01-20 399474 ENSG00000253304 OTTHUMG00000003658 uc001brn.3 NM_001003682 CCDS30658 Q69YZ2 15722956 MGI:3646343 RGD:1585251 HGNC:33785 "ENST00000521452.2|NM_001003682.4" HGNC:37208 TMEM200C transmembrane protein 200C protein-coding gene gene with protein product Approved 18p11.31 18p11.31 TTMA 2009-09-08 2023-01-20 645369 ENSG00000206432 OTTHUMG00000178423 uc060nbn.1 NM_001080209 CCDS45825 A6NKL6 15722956 MGI:3646281 RGD:1561734 HGNC:37208 "ENST00000383490.3|NM_001395400.1" -HGNC:33719 TMEM201 transmembrane protein 201 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "RP13-15M17.2|NET5|Ima1|SAMP1" spindle associated membrane protein 1 2007-12-18 2023-03-30 199953 ENSG00000188807 OTTHUMG00000057457 uc021ofy.2 NM_001010866 "CCDS44055|CCDS30579" Q5SNT2 "19494128|21327071|29514856" MGI:1196277 RGD:1583947 HGNC:33719 "ENST00000340381.11|NM_001130924.3" +HGNC:33719 TMEM201 transmembrane protein 201 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "RP13-15M17.2|NET5|Ima1|SAMP1" spindle associated membrane protein 1 2007-12-18 2023-03-30 199953 ENSG00000188807 OTTHUMG00000057457 uc021ofy.2 NM_001010866 "CCDS30579|CCDS44055" Q5SNT2 "19494128|21327071|29514856" MGI:1196277 RGD:1583947 HGNC:33719 "ENST00000340381.11|NM_001130924.3" HGNC:33733 TMEM202 transmembrane protein 202 protein-coding gene gene with protein product Approved 15q23-q24.1 15q23-q24.1 FLJ27523 2007-12-18 2023-01-20 338949 ENSG00000187806 OTTHUMG00000172716 uc002auq.4 NM_001080462 CCDS32287 A6NGA9 MGI:1921143 RGD:1585107 HGNC:33733 "ENST00000341689.4|NM_001080462.3" HGNC:53265 TMEM202-AS1 TMEM202 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 Antisense RNAs 1987 2017-03-22 2017-03-22 105370888 ENSG00000261423 OTTHUMG00000173055 NR_135678 HGNC:53265 HGNC:28217 TMEM203 transmembrane protein 203 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MGC14327|HBEBP1" HBeAg-binding protein 1 2007-12-18 2023-03-30 94107 ENSG00000187713 OTTHUMG00000020985 uc004clv.4 BC009283 NM_053045 CCDS35185 Q969S6 "25996873|31346090" MGI:2443597 RGD:1306304 616499 HGNC:28217 "ENST00000343666.6|NM_053045.2" @@ -39148,20 +39151,20 @@ HGNC:14158 TMEM204 transmembrane protein 204 protein-coding gene gene with prote HGNC:29631 TMEM205 transmembrane protein 205 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "UNQ501|MBC3205" 2008-01-09 2023-03-30 374882 ENSG00000105518 OTTHUMG00000182021 uc060tql.1 AK127147 NM_198536 CCDS32909 Q6UW68 "12975309|36476493" MGI:3045495 RGD:1563250 613771 HGNC:29631 "ENST00000354882.10|NM_198536.3" HGNC:33705 TMEM207 transmembrane protein 207 protein-coding gene gene with protein product Approved 3q28 03q28 2008-02-18 2023-03-30 131920 ENSG00000198398 OTTHUMG00000156213 uc003fsj.4 BC071780 NM_207316 CCDS3297 Q6UWW9 22226915 MGI:2685386 RGD:2322856 614786 HGNC:33705 "ENST00000354905.3|NM_207316.3" HGNC:25015 TMEM208 transmembrane protein 208 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "HSPC171|hSND2" SRP-independent targeting 2 homolog 2008-02-22 2023-01-20 29100 ENSG00000168701 OTTHUMG00000173064 uc002esi.3 NM_014187 "CCDS81996|CCDS45511" Q9BTX3 "23691174|28862756|32002553" MGI:1913570 RGD:1560953 HGNC:25015 "ENST00000304800.14|NM_014187.4" -HGNC:21898 TMEM209 transmembrane protein 209 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "FLJ14803|NET31" 2008-02-26 2023-03-30 84928 ENSG00000146842 OTTHUMG00000157653 uc003vpn.2 NM_032842 "CCDS75661|CCDS87547|CCDS47712" Q96SK2 "12958361|22719065" MGI:1919899 RGD:1309682 HGNC:21898 "ENST00000397622.7|NM_032842.4" +HGNC:21898 TMEM209 transmembrane protein 209 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "FLJ14803|NET31" 2008-02-26 2023-03-30 84928 ENSG00000146842 OTTHUMG00000157653 uc003vpn.2 NM_032842 "CCDS47712|CCDS75661|CCDS87547" Q96SK2 "12958361|22719065" MGI:1919899 RGD:1309682 HGNC:21898 "ENST00000397622.7|NM_032842.4" HGNC:34059 TMEM210 transmembrane protein 210 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 2008-04-04 2023-01-20 100505993 ENSG00000185863 OTTHUMG00000020981 uc033dlm.2 NM_001282477 CCDS65197 A6NLX4 MGI:1925467 RGD:2318321 HGNC:34059 "ENST00000413619.3|NM_001282477.2" HGNC:34295 TMEM212 transmembrane protein 212 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 FLJ23172 2008-06-10 2023-01-20 389177 ENSG00000186329 OTTHUMG00000156839 uc003fhw.2 NM_001164436 CCDS46958 A6NML5 MGI:2685410 RGD:1563109 HGNC:34295 "ENST00000334567.9|NM_001164436.2" HGNC:41939 TMEM212-AS1 TMEM212 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.31 03q26.31 TMEM212 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100874219 ENSG00000234717 OTTHUMG00000156879 uc062pzb.1 NR_046852 TMEM212-AS1 HGNC:41939 -HGNC:41505 TMEM212-IT1 TMEM212 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3q26.31 03q26.31 TMEM212 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874359 ENSG00000235943 OTTHUMG00000156878 uc062pzc.1 TMEM212-IT1 +HGNC:41505 TMEM212-IT1 TMEM212 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3q26.31 03q26.31 TMEM212 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2023-06-07 100874359 ENSG00000235943 OTTHUMG00000156878 uc062pzc.1 TMEM212-IT1 HGNC:27220 TMEM213 transmembrane protein 213 protein-coding gene gene with protein product Approved 7q34 07q34 2008-06-10 2023-01-20 155006 ENSG00000214128 OTTHUMG00000157182 uc010lna.5 NM_001085429 CCDS47722 A2RRL7 MGI:1924772 RGD:1588740 HGNC:27220 "ENST00000442682.7|NM_001085429.2" -HGNC:25983 TMEM214 transmembrane protein 214 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 FLJ20254 2008-06-10 2023-01-20 54867 ENSG00000119777 OTTHUMG00000151999 uc002ria.5 NM_017727 "CCDS46242|CCDS42664" Q6NUQ4 23661706 MGI:1916046 RGD:1311324 615301 HGNC:25983 "ENST00000238788.14|NM_017727.5" +HGNC:25983 TMEM214 transmembrane protein 214 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 FLJ20254 2008-06-10 2023-01-20 54867 ENSG00000119777 OTTHUMG00000151999 uc002ria.5 NM_017727 "CCDS42664|CCDS46242" Q6NUQ4 23661706 MGI:1916046 RGD:1311324 615301 HGNC:25983 "ENST00000238788.14|NM_017727.5" HGNC:33816 TMEM215 transmembrane protein 215 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 2008-06-10 2023-03-30 401498 ENSG00000188133 OTTHUMG00000129521 uc003zri.5 NM_212558 CCDS6530 Q68D42 30370660 MGI:2444167 RGD:1589861 HGNC:33816 "ENST00000342743.6|NM_212558.3" -HGNC:25018 TMEM216 transmembrane protein 216 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "MGC13379|HSPC244|JBTS2" "CORS2|MKS2" "cerebello-oculo-renal syndrome 2|Meckel syndrome, type 2" 2008-06-10 2023-04-12 51259 ENSG00000187049 OTTHUMG00000168146 uc010rlj.3 NM_016499 "CCDS81570|CCDS86205|CCDS53640" Q9P0N5 "20036350|20512146|22936720|33882309" MGI:1920020 RGD:1304607 LRG_698|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_698.xml 613277 221342 HGNC:25018 "ENST00000515837.7|NM_001173990.3" HGNC:25018 -HGNC:21238 TMEM217 transmembrane protein 217 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 dJ355M6.2 C6orf128 chromosome 6 open reading frame 128 2003-05-29 2008-07-07 2008-07-07 2023-01-20 221468 ENSG00000172738 OTTHUMG00000014618 uc010jwr.5 NM_145316 "CCDS93909|CCDS69102|CCDS93910|CCDS4831|CCDS93908" Q8N7C4 MGI:3646280 RGD:1585322 HGNC:21238 "ENST00000651039.2|NM_001286401.2" +HGNC:25018 TMEM216 transmembrane protein 216 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "MGC13379|HSPC244|JBTS2" "CORS2|MKS2" "cerebello-oculo-renal syndrome 2|Meckel syndrome, type 2" 2008-06-10 2023-04-12 51259 ENSG00000187049 OTTHUMG00000168146 uc010rlj.3 NM_016499 "CCDS81570|CCDS53640|CCDS86205" Q9P0N5 "20036350|20512146|22936720|33882309" MGI:1920020 RGD:1304607 LRG_698|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_698.xml 613277 221342 HGNC:25018 "ENST00000515837.7|NM_001173990.3" HGNC:25018 +HGNC:21238 TMEM217 transmembrane protein 217 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 dJ355M6.2 C6orf128 chromosome 6 open reading frame 128 2003-05-29 2008-07-07 2008-07-07 2023-01-20 221468 ENSG00000172738 OTTHUMG00000014618 uc010jwr.5 NM_145316 "CCDS93909|CCDS93908|CCDS93910|CCDS69102|CCDS4831" Q8N7C4 MGI:3646280 RGD:1585322 HGNC:21238 "ENST00000651039.2|NM_001286401.2" HGNC:55922 TMEM217B transmembrane protein 217B protein-coding gene gene with protein product Approved 6p21.2 06p21.2 2021-10-15 2021-10-15 121725057 ENSG00000286105 NM_001395377 A0A494BZU4 MGI:4937291 -HGNC:27344 TMEM218 transmembrane protein 218 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 2008-06-10 2023-03-30 219854 ENSG00000150433 OTTHUMG00000165880 uc058itc.1 NM_001080546 "CCDS91617|CCDS31715" A2RU14 "26982032|33791682|35137054" MGI:1913529 RGD:1311364 619285 HGNC:27344 "ENST00000682305.1|NM_001258244.2" +HGNC:27344 TMEM218 transmembrane protein 218 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 2008-06-10 2023-03-30 219854 ENSG00000150433 OTTHUMG00000165880 uc058itc.1 NM_001080546 "CCDS31715|CCDS91617" A2RU14 "26982032|33791682|35137054" MGI:1913529 RGD:1311364 619285 HGNC:27344 "ENST00000682305.1|NM_001258244.2" HGNC:25201 TMEM219 transmembrane protein 219 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 IGFBP-3R 2008-06-10 2023-03-30 124446 ENSG00000149932 OTTHUMG00000177105 uc002duw.3 NM_001083613 CCDS42145 Q86XT9 "20353938|23700234" MGI:1915992 RGD:1560566 620290 HGNC:25201 "ENST00000279396.11|NM_001083613.2" -HGNC:33757 TMEM220 transmembrane protein 220 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 2008-06-10 2023-01-20 388335 ENSG00000187824 OTTHUMG00000178043 uc002gmx.4 NM_001004313 "CCDS32567|CCDS82075|CCDS82074" Q6QAJ8 MGI:2443691 RGD:1309576 HGNC:33757 "ENST00000341871.8|NM_001004313.3" +HGNC:33757 TMEM220 transmembrane protein 220 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 2008-06-10 2023-01-20 388335 ENSG00000187824 OTTHUMG00000178043 uc002gmx.4 NM_001004313 "CCDS82074|CCDS32567|CCDS82075" Q6QAJ8 MGI:2443691 RGD:1309576 HGNC:33757 "ENST00000341871.8|NM_001004313.3" HGNC:44357 TMEM220-AS1 TMEM220 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.1-p12 17p13.1-p12 Antisense RNAs 1987 2012-08-17 2018-02-13 101101775 ENSG00000263400 OTTHUMG00000178046 uc031qza.2 DA190285 NR_073455 TMEM220-AS1 HGNC:44357 HGNC:21943 TMEM221 transmembrane protein 221 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 Jiraiya 2008-06-11 2023-03-30 100130519 ENSG00000188051 OTTHUMG00000182858 uc021uqh.1 NM_001190844 CCDS54230 A6NGB7 20951346 MGI:3525074 RGD:2319149 HGNC:21943 "ENST00000341130.6|NM_001190844.2" HGNC:25363 TMEM222 transmembrane protein 222 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DKFZP564D0478 C1orf160 chromosome 1 open reading frame 160 2005-07-15 2008-07-07 2008-07-07 2023-03-30 84065 ENSG00000186501 OTTHUMG00000004410 uc001bnr.5 AL136683 NM_032125 CCDS297 Q9H0R3 "11230166|33824500" MGI:1098568 RGD:1304793 619469 HGNC:25363 "ENST00000374076.9|NM_032125.3" @@ -39171,25 +39174,25 @@ HGNC:53075 TMEM225B transmembrane protein 225B protein-coding gene gene with pro HGNC:37279 TMEM229A transmembrane protein 229A protein-coding gene gene with protein product Approved 7q31.32 07q31.32 2009-09-22 2023-01-20 730130 ENSG00000234224 OTTHUMG00000154762 uc011kob.3 BC157828 NM_001136002 CCDS47694 B2RXF0 MGI:2442812 RGD:1590212 HGNC:37279 "ENST00000455783.3|NM_001136002.2" HGNC:20130 TMEM229B transmembrane protein 229B protein-coding gene gene with protein product Approved 14q24.1 14q24.1 FLJ33387 C14orf83 chromosome 14 open reading frame 83 2002-12-18 2009-09-22 2009-09-22 2023-01-20 161145 ENSG00000198133 OTTHUMG00000171270 uc059cpm.1 AK090706 NM_182526 CCDS9783 Q8NBD8 MGI:2444389 RGD:1562622 619022 HGNC:20130 "ENST00000554480.6|NM_001348543.2" HGNC:56580 TMEM229BP1 TMEM229B pseudogene 1 pseudogene pseudogene Approved 3q26.31 03q26.31 2022-11-03 2022-11-03 127482539 ENSG00000237645 PGOHUM00000299670 -HGNC:15876 TMEM230 transmembrane protein 230 protein-coding gene gene with protein product Approved 20p13-p12.3 20p13-p12.3 HSPC274 C20orf30 chromosome 20 open reading frame 30 2001-06-21 2012-03-16 2012-03-16 2023-03-30 29058 ENSG00000089063 OTTHUMG00000031796 uc002wlm.4 AF161392 NM_001009923 "CCDS33438|CCDS82597|CCDS13086" Q96A57 "27270108|28115417|34002226" MGI:1917862 RGD:1307399 617019 HGNC:15876 "ENST00000342308.10|NM_001009923.2" HGNC:15876 +HGNC:15876 TMEM230 transmembrane protein 230 protein-coding gene gene with protein product Approved 20p13-p12.3 20p13-p12.3 HSPC274 C20orf30 chromosome 20 open reading frame 30 2001-06-21 2012-03-16 2012-03-16 2023-03-30 29058 ENSG00000089063 OTTHUMG00000031796 uc002wlm.4 AF161392 NM_001009923 "CCDS13086|CCDS33438|CCDS82597" Q96A57 "27270108|28115417|34002226" MGI:1917862 RGD:1307399 617019 HGNC:15876 "ENST00000342308.10|NM_001009923.2" HGNC:15876 HGNC:55043 TMEM230P1 TMEM230 pseudogene 1 pseudogene pseudogene Approved Xq22.3 Xq22.3 2020-06-03 2020-06-11 2020-06-11 117981795 ENSG00000225728 NG_070710 HGNC:55044 TMEM230P2 TMEM230 pseudogene 2 pseudogene pseudogene Approved 11q12.1 11q12.1 2020-06-03 2020-06-11 2020-06-11 642975 ENSG00000238041 NG_030174 HGNC:37234 TMEM231 transmembrane protein 231 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "FLJ22167|ALYE870|PRO1886|JBTS20|MKS11" MKS complex 1545 2009-10-02 2023-03-30 79583 ENSG00000205084 OTTHUMG00000177132 uc002fem.5 NM_001077416 CCDS45530 Q9H6L2 "23012439|23349226|25869670|26595381" MGI:2685024 RGD:1306153 614949 321364 HGNC:37234 "ENST00000258173.11|NM_001077418.3" HGNC:37234 HGNC:53870 TMEM231P1 TMEM231 pseudogene 1 pseudogene pseudogene Approved 16q23.1 16q23.1 2018-05-01 2018-05-01 100420067 ENSG00000262583 OTTHUMG00000177130 NG_026383 PGOHUM00000293663 HGNC:53870 HGNC:37270 TMEM232 transmembrane protein 232 protein-coding gene gene with protein product Approved 5q22.1 05q22.1 FLJ43080 MicroRNA protein coding host genes 1691 2009-10-02 2009-10-02 2023-03-30 642987 ENSG00000186952 OTTHUMG00000163297 uc011cvh.4 AK125070 NM_001039763 CCDS47253 C9JQI7 36928730 MGI:2685786 RGD:1559548 620143 HGNC:37270 "ENST00000455884.7|NM_001039763.4" -HGNC:37219 TMEM233 transmembrane protein 233 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "IFITMD2|DSPB2" "interferon induced transmembrane protein domain containing 2|dispanin subfamily B member 2" interferon induced transmembrane protein domain containing 1600 2009-10-16 2023-01-20 387890 ENSG00000224982 OTTHUMG00000168944 uc010szd.2 NM_001136534 CCDS44995 B4DJY2 MGI:3651514 RGD:1597489 618296 HGNC:37219 "ENST00000426426.3|NM_001136534.3" +HGNC:37219 TMEM233 transmembrane protein 233 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "IFITMD2|DSPB2" "interferon induced transmembrane protein domain containing 2|dispanin subfamily B member 2" Dispanins 1600 2009-10-16 2023-01-20 387890 ENSG00000224982 OTTHUMG00000168944 uc010szd.2 NM_001136534 CCDS44995 B4DJY2 MGI:3651514 RGD:1597489 618296 HGNC:37219 "ENST00000426426.3|NM_001136534.3" HGNC:28837 TMEM234 transmembrane protein 234 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "RP4-622L5|dJ622L5.7|FLJ90779" C1orf91 chromosome 1 open reading frame 91 2005-05-27 2011-02-14 2011-02-14 2023-01-20 56063 ENSG00000160055 OTTHUMG00000005742 uc001buq.4 AY358586 NM_019118 "CCDS356|CCDS90906" Q8WY98 26377798 MGI:1924049 RGD:1583487 620289 HGNC:28837 "ENST00000309777.11|NM_019118.5" -HGNC:27563 TMEM235 transmembrane protein 235 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 2011-01-31 2011-02-18 2011-02-18 2023-03-15 283999 ENSG00000204278 OTTHUMG00000170345 uc021ued.2 BC042066 NM_001204211 "CCDS92405|CCDS56047|CCDS56046|CCDS56048" A6NFC5 21689651 MGI:3651706 RGD:1591141 620272 HGNC:27563 "ENST00000421688.7|NM_001395503.1" +HGNC:27563 TMEM235 transmembrane protein 235 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 2011-01-31 2011-02-18 2011-02-18 2023-03-15 283999 ENSG00000204278 OTTHUMG00000170345 uc021ued.2 BC042066 NM_001204211 "CCDS56047|CCDS56048|CCDS56046|CCDS92405" A6NFC5 21689651 MGI:3651706 RGD:1591141 620272 HGNC:27563 "ENST00000421688.7|NM_001395503.1" HGNC:23473 TMEM236 transmembrane protein 236 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 "bA16O1.2|bA162I21.2" "FAM23B|FAM23A" "family with sequence similarity 23, member B|family with sequence similarity 23, member A" 2004-05-27 2011-04-19 2011-04-19 2023-03-30 653567 ENSG00000148483 OTTHUMG00000017753 uc009xjx.5 NM_001098844 CCDS41492 Q5W0B7 34253750 MGI:1919309 RGD:1590637 HGNC:23473 "ENST00000377495.2|NM_001098844.3" -HGNC:14432 TMEM237 transmembrane protein 237 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 JBTS14 ALS2CR4 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4 2001-01-26 2011-05-20 2011-05-20 2023-03-30 65062 ENSG00000155755 OTTHUMG00000154526 uc061rky.1 AB053301 NM_152388 "CCDS46490|CCDS46489" Q96Q45 "11586298|22152675|33933680" MGI:2138365 RGD:1306705 614423 286631 HGNC:14432 "ENST00000409883.7|NM_001044385.3" HGNC:14432 +HGNC:14432 TMEM237 transmembrane protein 237 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 JBTS14 ALS2CR4 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4 2001-01-26 2011-05-20 2011-05-20 2023-03-30 65062 ENSG00000155755 OTTHUMG00000154526 uc061rky.1 AB053301 NM_152388 "CCDS46489|CCDS46490" Q96Q45 "11586298|22152675|33933680" MGI:2138365 RGD:1306705 614423 286631 HGNC:14432 "ENST00000409883.7|NM_001044385.3" HGNC:14432 HGNC:40042 TMEM238 transmembrane protein 238 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 2011-08-15 2023-01-20 388564 ENSG00000233493 OTTHUMG00000180795 uc002qku.4 NM_001190764 CCDS54323 C9JI98 MGI:1922935 RGD:1565210 HGNC:40042 "ENST00000444469.4|NM_001190764.2" HGNC:44356 TMEM238L transmembrane protein 238 like protein-coding gene gene with protein product Approved 17p13.1-p12 17p13.1-p12 FORCP FOXA1-Regulated Conserved Small Protein LINC00675 long intergenic non-protein coding RNA 675 2012-08-17 2017-08-11 2017-08-11 2023-01-20 100289255 ENSG00000263429 OTTHUMG00000132847 uc002gmz.3 BC015790 NM_001388428 CCDS92258 A6NJY4 "33112233|35274990" MGI:1918826 RGD:7617190 LINC00675 HGNC:44356 "ENST00000581851.2|NM_001388428.1" -HGNC:40044 TMEM239 transmembrane protein 239 protein-coding gene gene with protein product Approved 20p13 20p13 2011-08-15 2023-01-20 100288797 ENSG00000198326 OTTHUMG00000031713 uc002wgx.3 NM_001167670 "CCDS54444|CCDS82595" Q8WW34 MGI:1914016 HGNC:40044 "ENST00000380585.2|NM_001167670.3" +HGNC:40044 TMEM239 transmembrane protein 239 protein-coding gene gene with protein product Approved 20p13 20p13 2011-08-15 2023-01-20 100288797 ENSG00000198326 OTTHUMG00000031713 uc002wgx.3 NM_001167670 "CCDS82595|CCDS54444" Q8WW34 MGI:1914016 HGNC:40044 "ENST00000380585.2|NM_001167670.3" HGNC:25186 TMEM240 transmembrane protein 240 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "C1orf70|SCA21" "chromosome 1 open reading frame 70|spinocerebellar ataxia 21" 2005-05-18 2011-11-25 2011-11-25 2023-03-30 339453 ENSG00000205090 OTTHUMG00000042193 uc057bfw.1 NM_001114748 CCDS44040 Q5SV17 "12402269|25070513|32535204" MGI:3648074 RGD:2318117 616101 412653 HGNC:25186 "ENST00000378733.9|NM_001114748.2" HGNC:25186 HGNC:31723 TMEM241 transmembrane protein 241 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "MGC11386|FLJ44259|SLC35D4" solute carrier family 35 member D4 C18orf45 chromosome 18 open reading frame 45 Solute carrier family 35 2186 2005-01-11 2011-11-25 2011-11-25 2023-03-15 85019 ENSG00000134490 OTTHUMG00000131771 uc002kuf.4 BC082984 NM_032933 CCDS11876 Q24JQ0 27199446 MGI:2442435 RGD:1590602 615430 SLC35D4 HGNC:31723 "ENST00000383233.8|NM_032933.6" HGNC:17206 TMEM242 transmembrane protein 242 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 BM033 C6orf35 chromosome 6 open reading frame 35 Mitochondrial respiratory chain complex assembly factors 645 2001-11-20 2011-11-25 2011-11-25 2023-01-20 729515 ENSG00000215712 OTTHUMG00000015893 uc003sih.5 AF217510 NM_018452 CCDS43519 Q9NWH2 33753518 MGI:1917794 RGD:1307262 HGNC:17206 "ENST00000400788.9|NM_018452.6" HGNC:55260 TMEM242-DT TMEM242 divergent transcript non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 Divergent transcripts 1990 2020-09-25 2020-09-25 118732303 ENSG00000271040 -HGNC:21707 TMEM243 transmembrane protein 243 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "MGC4175|MM-TRAG" MDR1 and mitochondrial taxol resistance associated gene C7orf23 "chromosome 7 open reading frame 23|transmembrane protein 243, mitochondrial" 2003-07-14 2012-12-03 2015-11-26 2023-01-20 79161 ENSG00000135185 OTTHUMG00000130823 uc064fad.1 NM_024315 "CCDS5602|CCDS94136" Q9BU79 MGI:3606159 RGD:1562351 616993 HGNC:21707 "ENST00000257637.8|NM_024315.4" +HGNC:21707 TMEM243 transmembrane protein 243 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "MGC4175|MM-TRAG" MDR1 and mitochondrial taxol resistance associated gene C7orf23 "chromosome 7 open reading frame 23|transmembrane protein 243, mitochondrial" 2003-07-14 2012-12-03 2015-11-26 2023-01-20 79161 ENSG00000135185 OTTHUMG00000130823 uc064fad.1 NM_024315 "CCDS94136|CCDS5602" Q9BU79 MGI:3606159 RGD:1562351 616993 HGNC:21707 "ENST00000257637.8|NM_024315.4" HGNC:21571 TMEM244 transmembrane protein 244 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 bA174C7.4 C6orf191 chromosome 6 open reading frame 191 2003-11-26 2012-02-21 2012-02-21 2023-05-24 253582 ENSG00000203756 OTTHUMG00000015553 uc063rhh.1 NM_001010876 CCDS34536 Q5VVB8 HGNC:21571 "ENST00000368143.6|NM_001010876.2" HGNC:1363 TMEM245 transmembrane protein 245 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 CG-2 C9orf5 chromosome 9 open reading frame 5 MicroRNA protein coding host genes 1691 1999-06-02 2012-03-06 2012-03-06 2023-03-15 23731 ENSG00000106771 OTTHUMG00000020469 uc004bdt.5 AF153415 NM_032012 CCDS43858 Q9H330 10564813 MGI:2445107 RGD:1308958 620252 HGNC:1363 "ENST00000374586.8|NM_032012.4" HGNC:51191 TMEM246-AS1 TMEM246 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q31.1 09q31.1 Antisense RNAs 1987 2014-08-01 2014-08-01 101928470 ENSG00000225376 OTTHUMG00000020380 NR_121573 TMEM246-AS1 HGNC:51191 @@ -39201,9 +39204,9 @@ HGNC:31009 TMEM250 transmembrane protein 250 protein-coding gene gene with prote HGNC:28537 TMEM252 transmembrane protein 252 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 MGC34760 C9orf71 chromosome 9 open reading frame 71 2004-01-05 2012-07-19 2012-07-19 2023-01-20 169693 ENSG00000181778 OTTHUMG00000019967 uc004agt.4 BC029780 NM_153237 CCDS35040 Q8N6L7 12477932 MGI:3583948 RGD:1359349 HGNC:28537 "ENST00000377311.4|NM_153237.2" HGNC:54377 TMEM252-DT TMEM252 divergent transcript non-coding RNA RNA, long non-coding Approved 9q21.11 09q21.11 Divergent transcripts 1990 2019-05-17 2019-05-17 105376072 ENSG00000226337 XR_001746701 HGNC:54377 HGNC:32545 TMEM253 transmembrane protein 253 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "NCRNA00220|C14orf95|C14orf176" "non-protein coding RNA 220|chromosome 14 open reading frame 95|chromosome 14 open reading frame 176" 2006-03-09 2012-10-24 2012-10-24 2023-01-20 643382 ENSG00000232070 OTTHUMG00000171361 uc010tlo.2 NM_001146683 CCDS53884 P0C7T8 MGI:3588246 RGD:1597322 HGNC:32545 "ENST00000556585.3|NM_001395467.1" -HGNC:25804 TMEM254 transmembrane protein 254 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "FLJ13263|bA369J21.6" C10orf57 chromosome 10 open reading frame 57 2004-05-04 2012-11-06 2012-11-06 2023-01-20 80195 ENSG00000133678 OTTHUMG00000018602 uc001kbl.5 BC022252 NM_025125 "CCDS58087|CCDS7363|CCDS58086|CCDS73157" Q8TBM7 14702039 "MGI:1196450|MGI:3710397|MGI:3711260" RGD:1305689 HGNC:25804 "ENST00000372281.8|NM_025125.4" +HGNC:25804 TMEM254 transmembrane protein 254 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "FLJ13263|bA369J21.6" C10orf57 chromosome 10 open reading frame 57 2004-05-04 2012-11-06 2012-11-06 2023-01-20 80195 ENSG00000133678 OTTHUMG00000018602 uc001kbl.5 BC022252 NM_025125 "CCDS73157|CCDS58086|CCDS7363|CCDS58087" Q8TBM7 14702039 "MGI:1196450|MGI:3710397|MGI:3711260" RGD:1305689 HGNC:25804 "ENST00000372281.8|NM_025125.4" HGNC:27340 TMEM254-AS1 TMEM254 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 CPHX Antisense RNAs 1987 2012-11-06 2021-10-14 219347 ENSG00000230091 OTTHUMG00000018601 uc001kbi.5 NR_027428 21110847 TMEM254-AS1 HGNC:27340 -HGNC:26086 TMEM255A transmembrane protein 255A protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ20716 FAM70A family with sequence similarity 70, member A 2005-08-05 2012-11-30 2012-11-30 2023-01-20 55026 ENSG00000125355 OTTHUMG00000022298 uc010nqo.4 BC047054 NM_017938 "CCDS43986|CCDS48157|CCDS14597" Q5JRV8 12477932 MGI:3045722 RGD:727788 HGNC:26086 "ENST00000371369.9|NM_001104544.3" +HGNC:26086 TMEM255A transmembrane protein 255A protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ20716 FAM70A family with sequence similarity 70, member A 2005-08-05 2012-11-30 2012-11-30 2023-01-20 55026 ENSG00000125355 OTTHUMG00000022298 uc010nqo.4 BC047054 NM_017938 "CCDS48157|CCDS43986|CCDS14597" Q5JRV8 12477932 MGI:3045722 RGD:727788 HGNC:26086 "ENST00000371369.9|NM_001104544.3" HGNC:28297 TMEM255B transmembrane protein 255B protein-coding gene gene with protein product Approved 13q34 13q34 MGC20579 FAM70B family with sequence similarity 70, member B 2005-08-05 2012-11-30 2012-11-30 2023-01-20 348013 ENSG00000184497 OTTHUMG00000017398 uc001vuh.4 BC018995 NM_182614 CCDS45071 Q8WV15 12477932 MGI:2685533 RGD:1566042 HGNC:28297 "ENST00000375353.5|NM_182614.4" HGNC:28618 TMEM256 transmembrane protein 256 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 MGC40107 C17orf61 chromosome 17 open reading frame 61 2005-12-16 2012-12-03 2012-12-03 2023-01-20 254863 ENSG00000205544 OTTHUMG00000132900 uc002ggs.4 BC030270 NM_152766 CCDS11102 Q8N2U0 12477932 MGI:1916436 RGD:1563438 617779 HGNC:28618 "ENST00000302422.4|NM_152766.5" HGNC:49186 TMEM256-PLSCR3 TMEM256-PLSCR3 readthrough (NMD candidate) other readthrough Approved 17p13.1 17p13.1 2013-09-25 2016-11-10 100529211 ENSG00000262481 OTTHUMG00000178150 NR_037719 HGNC:49186 @@ -39216,7 +39219,7 @@ HGNC:17039 TMEM259 transmembrane protein 259 protein-coding gene gene with prote HGNC:20185 TMEM260 transmembrane protein 260 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 FLJ20392 C14orf101 chromosome 14 open reading frame 101 2002-12-20 2013-03-08 2013-03-08 2023-03-31 54916 ENSG00000070269 OTTHUMG00000152337 uc001xcm.4 AK000399 NM_017799 CCDS9727 Q9NX78 "28318500|34612517" MGI:2443219 RGD:1562018 617449 HGNC:20185 "ENST00000261556.11|NM_017799.4" HGNC:20185 HGNC:49389 TMEM262 transmembrane protein 262 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 2013-11-07 2023-01-20 100130348 ENSG00000187066 OTTHUMG00000165598 NM_001282448 CCDS60845 E9PQX1 MGI:3690536 RGD:2318452 HGNC:49389 "ENST00000530719.6|NM_001282448.2" HGNC:28281 TMEM263 transmembrane protein 263 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 MGC17943 C12orf23 chromosome 12 open reading frame 23 2005-12-22 2014-03-19 2014-03-19 2023-03-31 90488 ENSG00000151135 OTTHUMG00000170014 NM_152261 CCDS9110 Q8WUH6 "29930570|34238371" MGI:2143652 RGD:1563325 HGNC:28281 "ENST00000280756.9|NM_152261.4" -HGNC:55395 TMEM263-DT TMEM263 divergent transcript non-coding RNA RNA, long non-coding Approved 12q23.3 12q23.3 Divergent transcripts 1990 2020-12-21 2020-12-21 119863870 ENSG00000260329 +HGNC:55395 TMEM263-DT TMEM263 divergent transcript non-coding RNA RNA, long non-coding Approved 12q23.3 12q23.3 Divergent transcripts 1990 2020-12-21 2020-12-21 119863870 ENSG00000260329 NR_185933 HGNC:51241 TMEM265 transmembrane protein 265 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2015-01-20 2023-01-20 100862671 ENSG00000281991 OTTHUMG00000191414 NM_001256829 CCDS73870 A0A087WTH1 MGI:5613213 RGD:7523242 HGNC:51241 "ENST00000615541.3|NM_001256829.2" HGNC:26763 TMEM266 transmembrane protein 266 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 FLJ38190 C15orf27 chromosome 15 open reading frame 27 2004-06-29 2015-10-06 2015-10-06 2023-03-31 123591 ENSG00000169758 OTTHUMG00000142918 AK095509 NM_152335 CCDS10289 Q2M3C6 "14702039|22020278|35574701" MGI:2142980 RGD:1562084 618691 HGNC:26763 "ENST00000388942.8|NM_152335.3" HGNC:26139 TMEM267 transmembrane protein 267 protein-coding gene gene with protein product Approved 5p12 05p12 FLJ21657 C5orf28 chromosome 5 open reading frame 28 2006-08-11 2016-05-17 2016-05-17 2023-01-20 64417 ENSG00000151881 OTTHUMG00000131150 uc003jnx.4 AK025310 NM_022483 CCDS3945 Q0VDI3 12477932 MGI:3648543 RGD:1562550 HGNC:26139 "ENST00000397080.8|NM_022483.5" @@ -39232,12 +39235,12 @@ HGNC:53938 TMEM275 transmembrane protein 275 protein-coding gene gene with prote HGNC:56235 TMEM276 transmembrane protein 276 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 2022-05-13 2023-01-20 84773 ENSG00000291317 NM_001129888 CCDS6426 P0DTL5 HGNC:56752 TMEM276-ZFTRAF1 TMEM276-ZFTRAF1 readthrough other readthrough Approved 8q24.3 08q24.3 2023-02-21 2023-02-21 157542 ENSG00000291316 NM_001408008 HGNC:25050 TMEM277P transmembrane protein 277, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 MGC45922 LINC01869 long intergenic non-protein coding RNA 1869 2016-12-02 2022-06-22 2022-06-22 2022-06-22 284365 ENSG00000180279 OTTHUMG00000182877 NR_038359 12477932 HGNC:25050 -HGNC:11870 TMF1 TATA element modulatory factor 1 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "ARA160|TMF" "Golgins|MicroRNA protein coding host genes" "1084|1691" 1992-11-25 2023-01-20 7110 ENSG00000144747 OTTHUMG00000158771 uc003dnn.4 NM_007114 "CCDS87105|CCDS43105" P82094 1409643 MGI:2684999 RGD:620551 601126 HGNC:11870 "ENST00000398559.7|NM_007114.3" +HGNC:11870 TMF1 TATA element modulatory factor 1 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "ARA160|TMF" "Golgins|MicroRNA protein coding host genes" "1084|1691" 1992-11-25 2023-01-20 7110 ENSG00000144747 OTTHUMG00000158771 uc003dnn.4 NM_007114 "CCDS43105|CCDS87105" P82094 1409643 MGI:2684999 RGD:620551 601126 HGNC:11870 "ENST00000398559.7|NM_007114.3" HGNC:51353 TMF1P1 TATA element modulatory factor 1 pseudogene 1 pseudogene pseudogene Approved 16p13.12 16p13.12 2014-10-14 2017-01-03 106480320 ENSG00000262235 OTTHUMG00000177336 NG_044428 PGOHUM00000293708 HGNC:51353 HGNC:30800 TMIE transmembrane inner ear protein-coding gene gene with protein product Approved 3p21.31 03p21.31 DFNB6 deafness, autosomal recessive 6 2004-05-19 2004-05-19 2023-01-20 259236 ENSG00000181585 OTTHUMG00000149909 uc010hjk.2 AY081842 NM_147196 "CCDS93259|CCDS43081" Q8NEW7 "12140191|12145746" MGI:2159400 RGD:1562523 CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=TMIE 607237 120145 HGNC:30800 "ENST00000643606.3|NM_147196.3" HGNC:30800 HGNC:32431 TMIGD1 transmembrane and immunoglobulin domain containing 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 UNQ9372 TMIGD I-set domain containing 593 2005-12-19 2006-07-05 2006-07-05 2023-01-20 388364 ENSG00000182271 OTTHUMG00000179757 uc002hfa.1 AY358153 NM_206832 "CCDS82099|CCDS32605" Q6UXZ0 "12975309|26342724" MGI:1913851 RGD:1307444 HGNC:32431 "ENST00000328886.5|NM_206832.3" -HGNC:28324 TMIGD2 transmembrane and immunoglobulin domain containing 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC23244|CD28H|IGPR-1" "CD28 homologue|immunoglobulin-containing and proline-rich receptor-1" Immunoglobulin like domain containing 594 2006-07-05 2006-07-05 2023-01-20 126259 ENSG00000167664 OTTHUMG00000181880 uc002lzx.3 BC015655 NM_144615 "CCDS59334|CCDS12126|CCDS77217" Q96BF3 "22419821|23784006" 614715 HGNC:28324 "ENST00000595645.6|NM_001169126.2" -HGNC:51375 TMIGD3 transmembrane and immunoglobulin domain containing 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 AD026 2014-11-06 2023-01-20 57413 ENSG00000121933 OTTHUMG00000190810 NM_001081976 "CCDS838|CCDS41369" P0DMS9 MGI:5604098 RGD:2324712 HGNC:51375 "ENST00000369716.9|NM_020683.7" +HGNC:28324 TMIGD2 transmembrane and immunoglobulin domain containing 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC23244|CD28H|IGPR-1" "CD28 homologue|immunoglobulin-containing and proline-rich receptor-1" Immunoglobulin like domain containing 594 2006-07-05 2006-07-05 2023-01-20 126259 ENSG00000167664 OTTHUMG00000181880 uc002lzx.3 BC015655 NM_144615 "CCDS77217|CCDS12126|CCDS59334" Q96BF3 "22419821|23784006" 614715 HGNC:28324 "ENST00000595645.6|NM_001169126.2" +HGNC:51375 TMIGD3 transmembrane and immunoglobulin domain containing 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 AD026 2014-11-06 2023-01-20 57413 ENSG00000121933 OTTHUMG00000190810 NM_001081976 "CCDS41369|CCDS838" P0DMS9 MGI:5604098 RGD:2324712 HGNC:51375 "ENST00000369716.9|NM_020683.7" HGNC:18308 TMLHE trimethyllysine hydroxylase, epsilon protein-coding gene gene with protein product Approved Xq28 Xq28 "TMLH|FLJ10727|BBOX2|XAP130" butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2 2002-04-26 2023-01-20 55217 ENSG00000185973 OTTHUMG00000022674 uc004fnn.5 "AF373407|X97513" NM_018196 "CCDS55547|CCDS14768" Q9NVH6 "8908511|11431483" MGI:2180203 RGD:620629 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TMLHE 300777 471238 HGNC:18308 "ENST00000334398.8|NM_018196.4" HGNC:18308 HGNC:44261 TMLHE-AS1 TMLHE antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 TMLHE antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-01 2012-08-15 2012-10-12 100507404 ENSG00000224533 OTTHUMG00000022672 uc004fnl.3 BC042086 NR_039991 TMLHE-AS1 HGNC:44261 HGNC:55622 TMLHEP1 TMLHE pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2021-06-22 2021-06-22 553939 ENSG00000230578 NG_029356 PGOHUM00000305408 @@ -39245,19 +39248,19 @@ HGNC:11871 TMOD1 tropomodulin 1 protein-coding gene gene with protein product Ap HGNC:11872 TMOD2 tropomodulin 2 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 NTMOD neuronal tropomodulin Tropomodulins 1140 2000-02-16 2015-11-16 2023-01-20 29767 ENSG00000128872 OTTHUMG00000131805 uc002abk.4 AF177169 NM_001142885 "CCDS45260|CCDS10144" Q9NZR1 10662549 MGI:1355335 RGD:61948 602928 HGNC:11872 "ENST00000249700.9|NM_014548.4" HGNC:11873 TMOD3 tropomodulin 3 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 UTMOD ubiquitous tropomodulin Tropomodulins 1140 2000-02-16 2015-11-16 2023-01-20 29766 ENSG00000138594 OTTHUMG00000131803 uc002abn.4 AF177171 NM_014547 CCDS10145 Q9NYL9 10662549 MGI:1355315 RGD:1311030 605112 471242 HGNC:11873 "ENST00000308580.12|NM_014547.5" HGNC:11874 TMOD4 tropomodulin 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Sk-Tmod "actin-capping protein|skeletal tropomodulin" tropomodulin 4 (muscle) Tropomodulins 1140 2000-02-16 2015-11-16 2023-01-20 29765 ENSG00000163157 OTTHUMG00000012350 uc001exc.5 AF177173 NM_013353 CCDS988 Q9NZQ9 "10662549|10497209" MGI:1355285 RGD:1308940 605834 HGNC:11874 "ENST00000295314.9|NM_013353.3" -HGNC:11875 TMPO thymopoietin protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "TP|LAP2|LEMD4" LEM domain containing 4 LEM domain containing 1087 1994-11-08 2023-01-20 7112 ENSG00000120802 OTTHUMG00000170210 uc001tfh.3 NM_003276 "CCDS76589|CCDS31879|CCDS9064|CCDS31880" "P42166|P42167" 7517549 MGI:106920 RGD:3875 LRG_443|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_443.xml 188380 159042 HGNC:11875 "ENST00000556029.6|NM_001032283.3" HGNC:11875 +HGNC:11875 TMPO thymopoietin protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "TP|LAP2|LEMD4" LEM domain containing 4 LEM domain containing 1087 1994-11-08 2023-01-20 7112 ENSG00000120802 OTTHUMG00000170210 uc001tfh.3 NM_003276 "CCDS31879|CCDS31880|CCDS9064|CCDS76589" "P42166|P42167" 7517549 MGI:106920 RGD:3875 LRG_443|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_443.xml 188380 159042 HGNC:11875 "ENST00000556029.6|NM_001032283.3" HGNC:11875 HGNC:44158 TMPO-AS1 TMPO antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q23.1 12q23.1 TMPO antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2022-12-21 100128191 ENSG00000257167 OTTHUMG00000170209 uc001tfg.4 NR_027157 "31230752|31501276" TMPO-AS1 HGNC:44158 HGNC:21364 TMPOP1 thymopoietin pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 Em:AB014080.3 TMPOL1 thymopoietin-like 1 2003-11-27 2004-03-22 2004-03-22 2014-11-19 100129772 ENSG00000229068 OTTHUMG00000031218 NG_027533 PGOHUM00000243574 HGNC:21364 HGNC:50860 TMPOP2 thymopoietin pseudogene 2 pseudogene pseudogene Approved 16q23.1 16q23.1 lncRNA-EBIC EZH2-binding lncRNA in cervical cancer thymopoietin pseudogene 2 (functional) 2014-07-06 2016-01-29 2016-01-29 100533619 ENSG00000262904 OTTHUMG00000177355 NG_028880 25007342 PGOHUM00000249173 HGNC:50860 HGNC:33865 TMPPE transmembrane protein with metallophosphoesterase domain protein-coding gene gene with protein product Approved 3p22.3 03p22.3 FLJ45032 2009-02-24 2009-02-24 2023-01-20 643853 ENSG00000188167 OTTHUMG00000155779 uc003cfk.3 AK126979 NM_001039770 "CCDS46786|CCDS33732" Q6ZT21 MGI:5317335 RGD:7696429 HGNC:33865 "ENST00000342462.5|NM_001039770.3" HGNC:11876 TMPRSS2 transmembrane serine protease 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 PRSS10 transmembrane protease, serine 2 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 1997-05-09 2018-01-19 2023-01-20 7113 ENSG00000184012 OTTHUMG00000086762 uc002yzj.4 U75329 NM_001135099 O15393 9325052 MGI:1354381 LRG_1368|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1368.xml TMPRSS2 602060 S01.247 objectId:2421 HGNC:11876 "ENST00000332149.10|NM_005656.4" -HGNC:11877 TMPRSS3 transmembrane serine protease 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "DFNB10|DFNB8" transmembrane protease, serine 3 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2000-05-17 2018-01-19 2023-01-20 64699 ENSG00000160183 OTTHUMG00000086796 uc062akz.1 AF201380 NM_001256317 "CCDS13686|CCDS58790|CCDS42939" P57727 "11462234|11907649" MGI:2155445 RGD:1310135 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=TMPRSS3" 605511 120148 S01.079 HGNC:11877 "ENST00000644384.2|NM_001256317.3" HGNC:11877 -HGNC:11878 TMPRSS4 transmembrane serine protease 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TMPRSS3|MT-SP2|CAP2" "transmembrane serine protease 3|membrane-type serine protease 2|type II membrane serine protease|channel-activating serine protease 2" transmembrane protease, serine 4 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2000-08-11 2018-01-19 2023-01-20 56649 ENSG00000137648 OTTHUMG00000164122 uc058hvt.1 AF179224 NM_019894 "CCDS53716|CCDS53717|CCDS76482|CCDS44743|CCDS31684" Q9NRS4 "10825129|25203520" MGI:2384877 RGD:1305033 606565 364667 S01.034 HGNC:11878 "ENST00000437212.8|NM_019894.4" HGNC:11878 -HGNC:14908 TMPRSS5 transmembrane serine protease 5 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "MGC141886|MGC148044" spinesin transmembrane protease, serine 5 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2001-04-05 2018-01-19 2023-01-20 80975 ENSG00000166682 OTTHUMG00000168186 uc001poc.6 AB028140 NM_030770 "CCDS73393|CCDS73390|CCDS44735|CCDS73392|CCDS73391" Q9H3S3 MGI:1933407 RGD:628625 606751 S01.313 HGNC:14908 "ENST00000299882.11|NM_030770.4" HGNC:14908 -HGNC:16517 TMPRSS6 transmembrane serine protease 6 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "FLJ30744|MT2" matriptase-2 transmembrane protease, serine 6 Type II transmembrane serine proteases 2020 2003-12-17 2018-01-19 2023-01-20 164656 ENSG00000187045 OTTHUMG00000150541 uc003aqs.3 AY055383 NM_153609 "CCDS74857|CCDS74856" Q8IU80 MGI:1919003 RGD:1307138 LRG_1128|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1128.xml 609862 139780 S01.308 objectId:2422 HGNC:16517 "ENST00000676104.1|NM_001374504.1" HGNC:16517 +HGNC:11877 TMPRSS3 transmembrane serine protease 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "DFNB10|DFNB8" transmembrane protease, serine 3 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2000-05-17 2018-01-19 2023-01-20 64699 ENSG00000160183 OTTHUMG00000086796 uc062akz.1 AF201380 NM_001256317 "CCDS42939|CCDS58790|CCDS13686" P57727 "11462234|11907649" MGI:2155445 RGD:1310135 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=TMPRSS3" 605511 120148 S01.079 HGNC:11877 "ENST00000644384.2|NM_001256317.3" HGNC:11877 +HGNC:11878 TMPRSS4 transmembrane serine protease 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TMPRSS3|MT-SP2|CAP2" "transmembrane serine protease 3|membrane-type serine protease 2|type II membrane serine protease|channel-activating serine protease 2" transmembrane protease, serine 4 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2000-08-11 2018-01-19 2023-01-20 56649 ENSG00000137648 OTTHUMG00000164122 uc058hvt.1 AF179224 NM_019894 "CCDS53717|CCDS31684|CCDS53716|CCDS76482|CCDS44743" Q9NRS4 "10825129|25203520" MGI:2384877 RGD:1305033 606565 364667 S01.034 HGNC:11878 "ENST00000437212.8|NM_019894.4" HGNC:11878 +HGNC:14908 TMPRSS5 transmembrane serine protease 5 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "MGC141886|MGC148044" spinesin transmembrane protease, serine 5 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2001-04-05 2018-01-19 2023-01-20 80975 ENSG00000166682 OTTHUMG00000168186 uc001poc.6 AB028140 NM_030770 "CCDS73393|CCDS73392|CCDS73390|CCDS44735|CCDS73391" Q9H3S3 MGI:1933407 RGD:628625 606751 S01.313 HGNC:14908 "ENST00000299882.11|NM_030770.4" HGNC:14908 +HGNC:16517 TMPRSS6 transmembrane serine protease 6 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "FLJ30744|MT2" matriptase-2 transmembrane protease, serine 6 Type II transmembrane serine proteases 2020 2003-12-17 2018-01-19 2023-01-20 164656 ENSG00000187045 OTTHUMG00000150541 uc003aqs.3 AY055383 NM_153609 "CCDS74856|CCDS74857" Q8IU80 MGI:1919003 RGD:1307138 LRG_1128|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1128.xml 609862 139780 S01.308 objectId:2422 HGNC:16517 "ENST00000676104.1|NM_001374504.1" HGNC:16517 HGNC:30846 TMPRSS7 transmembrane serine protease 7 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 matriptase-3 "type II transmembrane serine protease 7|transmembrane protease, serine 7" Type II transmembrane serine proteases 2020 2003-12-17 2018-01-19 2023-01-20 344805 ENSG00000176040 OTTHUMG00000157148 uc010hqb.3 BN000125 NM_001042575 "CCDS93340|CCDS43129" Q7RTY8 12838346 MGI:2686594 RGD:1304655 S01.072 HGNC:30846 "ENST00000452346.7|NM_001395507.1" -HGNC:30079 TMPRSS9 transmembrane serine protease 9 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 polyserase 1 transmembrane protease, serine 9 Type II transmembrane serine proteases 2020 2004-04-07 2018-01-19 2023-01-20 360200 ENSG00000178297 OTTHUMG00000180431 uc010xgx.3 AJ488946 NM_182973 "CCDS12088|CCDS92484" Q7Z410 12886014 MGI:3612246 RGD:1309581 610477 S01.969 HGNC:30079 "ENST00000696167.1|NM_001395513.1" -HGNC:27954 TMPRSS11A transmembrane serine protease 11A protein-coding gene gene with protein product Approved 4q13.2 04q13.2 "ECRG1|HATL1|HESP" airway trypsin-like protease 1 transmembrane protease, serine 11A Type II transmembrane serine proteases 2020 2005-03-11 2018-01-19 2023-01-20 339967 ENSG00000187054 OTTHUMG00000129303 uc003hdr.2 AF071882 NM_182606 "CCDS3519|CCDS47065" Q6ZMR5 15328353 MGI:2684853 RGD:1596322 611704 S01.292 HGNC:27954 "ENST00000508048.6|NM_001114387.2" +HGNC:30079 TMPRSS9 transmembrane serine protease 9 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 polyserase 1 transmembrane protease, serine 9 Type II transmembrane serine proteases 2020 2004-04-07 2018-01-19 2023-01-20 360200 ENSG00000178297 OTTHUMG00000180431 uc010xgx.3 AJ488946 NM_182973 "CCDS92484|CCDS12088" Q7Z410 12886014 MGI:3612246 RGD:1309581 610477 S01.969 HGNC:30079 "ENST00000696167.1|NM_001395513.1" +HGNC:27954 TMPRSS11A transmembrane serine protease 11A protein-coding gene gene with protein product Approved 4q13.2 04q13.2 "ECRG1|HATL1|HESP" airway trypsin-like protease 1 transmembrane protease, serine 11A Type II transmembrane serine proteases 2020 2005-03-11 2018-01-19 2023-01-20 339967 ENSG00000187054 OTTHUMG00000129303 uc003hdr.2 AF071882 NM_182606 "CCDS47065|CCDS3519" Q6ZMR5 15328353 MGI:2684853 RGD:1596322 611704 S01.292 HGNC:27954 "ENST00000508048.6|NM_001114387.2" HGNC:25398 TMPRSS11B transmembrane serine protease 11B protein-coding gene gene with protein product Approved 4q13.2 04q13.2 HATL5 airway trypsin-like protease 5 transmembrane protease, serine 11B Type II transmembrane serine proteases 2020 2005-03-11 2018-01-19 2023-01-20 132724 ENSG00000185873 OTTHUMG00000129301 uc003hdw.5 BX537945 NM_182502 CCDS3521 Q86T26 MGI:2442893 RGD:1303278 S01.365 HGNC:25398 "ENST00000332644.6|NM_182502.3" HGNC:37262 TMPRSS11BNL TMPRSS11B N-terminal like, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 FLJ41562 "TMPRSS11B N terminal-like|TMPRSS11B N-terminal like" 2010-01-19 2014-05-08 2023-03-15 401136 ENSG00000250026 OTTHUMG00000160802 NR_104048 HGNC:37262 HGNC:31934 TMPRSS11CP transmembrane serine protease 11C, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 transmembrane protease, serine 11C, pseudogene 2010-03-12 2018-01-19 2018-01-19 100381178 ENSG00000232398 OTTHUMG00000154681 NG_016735 "15328353|18215125" MGI:3521861 RGD:1302967 HGNC:31934 @@ -39266,7 +39269,7 @@ HGNC:24465 TMPRSS11E transmembrane serine protease 11E protein-coding gene gene HGNC:29994 TMPRSS11F transmembrane serine protease 11F protein-coding gene gene with protein product Approved 4q13.2 04q13.2 "FLJ16046|HATL4" airway trypsin-like protease 4 transmembrane protease, serine 11F Type II transmembrane serine proteases 2020 2005-03-11 2018-01-19 2023-01-20 389208 ENSG00000198092 OTTHUMG00000129307 uc003hdt.2 AK122625 NM_207407 CCDS3520 Q6ZWK6 MGI:2442348 RGD:1560675 S01.321 HGNC:29994 "ENST00000356291.3|NM_207407.2" HGNC:42983 TMPRSS11GP transmembrane serine protease 11G, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 transmembrane protease, serine 11G, pseudogene 2011-09-13 2018-01-19 2018-01-19 644759 ENSG00000229009 OTTHUMG00000154737 NR_033737 MGI:2444058 PGOHUM00000245555 HGNC:42983 HGNC:28779 TMPRSS12 transmembrane serine protease 12 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "MGC57341|CT151" transmembrane protease, serine 12 Type II transmembrane serine proteases 2020 2005-02-24 2018-01-19 2023-01-20 283471 ENSG00000186452 OTTHUMG00000169483 uc001rwx.5 BC048112 NM_182559 CCDS44881 Q86WS5 MGI:1922252 RGD:2323781 S01.291 HGNC:28779 "ENST00000398458.4|NM_182559.3" -HGNC:29808 TMPRSS13 transmembrane serine protease 13 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "MSPL|MSPS" Membrane-type mosaic serine protease TMPRSS11 "transmembrane protease, serine 11|transmembrane protease, serine 13" "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2005-02-24 2005-03-12 2018-01-19 2023-01-20 84000 ENSG00000137747 OTTHUMG00000166992 uc001prs.3 AB048796 NM_032046 "CCDS55788|CCDS41721|CCDS55789|CCDS58185" Q9BYE2 11267681 MGI:2682935 RGD:1310872 610050 S01.087 HGNC:29808 "ENST00000524993.6|NM_001077263.3" +HGNC:29808 TMPRSS13 transmembrane serine protease 13 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "MSPL|MSPS" Membrane-type mosaic serine protease TMPRSS11 "transmembrane protease, serine 11|transmembrane protease, serine 13" "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2005-02-24 2005-03-12 2018-01-19 2023-01-20 84000 ENSG00000137747 OTTHUMG00000166992 uc001prs.3 AB048796 NM_032046 "CCDS58185|CCDS55789|CCDS41721|CCDS55788" Q9BYE2 11267681 MGI:2682935 RGD:1310872 610050 S01.087 HGNC:29808 "ENST00000524993.6|NM_001077263.3" HGNC:9490 TMPRSS15 transmembrane serine protease 15 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "ENTK|MGC133046" "proenterokinase|enteropeptidase" PRSS7 "protease, serine, 7 (enterokinase)|transmembrane protease, serine 15" "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 1995-08-14 2010-04-21 2018-01-19 2023-01-20 5651 ENSG00000154646 OTTHUMG00000074518 uc002ykw.4 NM_002772 CCDS13571 P98073 8052624 MGI:1197523 RGD:1311046 606635 173222 S01.156 objectId:3189 HGNC:9490 "ENST00000284885.8|NM_002772.3" HGNC:9490 HGNC:11881 TMSB4X thymosin beta 4 X-linked protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 TB4X TMSB4 thymosin, beta 4, X chromosome 1994-09-06 2018-04-26 2023-01-20 7114 ENSG00000205542 OTTHUMG00000021144 uc004cvf.4 NM_021109 CCDS35202 P62328 "2677145|9381176" MGI:99510 RGD:621622 300159 HGNC:11881 "ENST00000451311.7|NM_021109.4" HGNC:11883 TMSB4XP1 TMSB4X pseudogene 1 pseudogene pseudogene Approved 1p34.2 01p34.2 TMSL1 "thymosin-like 1|thymosin-like 1 (pseudogene)|thymosin beta 4, X-linked pseudogene 1" 1990-06-18 2010-06-23 2018-04-26 2018-04-26 7115 ENSG00000236876 OTTHUMG00000007433 BC101199 NG_004714 HGNC:11883 @@ -39288,12 +39291,12 @@ HGNC:55173 TMSB15C thymosin beta 15C protein-coding gene gene with protein produ HGNC:24550 TMT1A thiol methyltransferase 1A protein-coding gene gene with protein product Approved 12q13.12 12q13.12 DKFZP586A0522 METTL7A methyltransferase like 7A 7BS small molecule methyltransferases 2063 2006-02-09 2023-01-18 2023-01-18 2023-01-20 25840 ENSG00000185432 OTTHUMG00000169484 uc058nys.1 NM_014033 CCDS8804 Q9H8H3 12975309 "MGI:1916523|MGI:3026615|MGI:3710670" RGD:1308407 618338 2.1.1.- HGNC:24550 "ENST00000332160.5|NM_014033.4" HGNC:48874 TMT1AP1 thiol methyltransferase 1A pseudogene 1 pseudogene pseudogene Approved 12q13.13 12q13.13 METTL7AP1 methyltransferase like 7A pseudogene 1 2013-06-20 2023-01-18 2023-01-18 2023-01-18 100996686 ENSG00000257649 OTTHUMG00000169628 PGOHUM00000261131 HGNC:48874 HGNC:28276 TMT1B thiol methyltransferase 1B protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "MGC17301|ALDI" associated with lipid droplets 1 METTL7B methyltransferase like 7B 7BS small molecule methyltransferases 2063 2006-02-09 2023-01-18 2023-01-18 2023-01-20 196410 ENSG00000170439 OTTHUMG00000152665 uc010spr.3 NM_152637 CCDS8887 Q6UX53 17004324 MGI:1918914 RGD:1305205 HGNC:28276 "ENST00000394252.4|NM_152637.3" -HGNC:24099 TMTC1 transmembrane O-mannosyltransferase targeting cadherins 1 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "ARG99|OLF|FLJ31400|FLJ41625" transmembrane and tetratricopeptide repeat containing 1 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2023-01-20 83857 ENSG00000133687 OTTHUMG00000169324 uc001rjb.4 NM_031920 "CCDS91670|CCDS53772|CCDS8718" Q8IUR5 24764305 MGI:3039590 RGD:1564868 615855 HGNC:24099 "ENST00000539277.6|NM_001193451.2" -HGNC:25440 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 DKFZp762A217 transmembrane and tetratricopeptide repeat containing 2 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2023-01-20 160335 ENSG00000179104 OTTHUMG00000169736 uc001szt.5 AK074634 NM_152588 "CCDS81717|CCDS9025" Q8N394 24764305 MGI:1914057 RGD:1309848 615856 HGNC:25440 "ENST00000321196.8|NM_152588.3" HGNC:25440 +HGNC:24099 TMTC1 transmembrane O-mannosyltransferase targeting cadherins 1 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "ARG99|OLF|FLJ31400|FLJ41625" transmembrane and tetratricopeptide repeat containing 1 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2023-01-20 83857 ENSG00000133687 OTTHUMG00000169324 uc001rjb.4 NM_031920 "CCDS8718|CCDS91670|CCDS53772" Q8IUR5 24764305 MGI:3039590 RGD:1564868 615855 HGNC:24099 "ENST00000539277.6|NM_001193451.2" +HGNC:25440 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 DKFZp762A217 transmembrane and tetratricopeptide repeat containing 2 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2023-01-20 160335 ENSG00000179104 OTTHUMG00000169736 uc001szt.5 AK074634 NM_152588 "CCDS9025|CCDS81717" Q8N394 24764305 MGI:1914057 RGD:1309848 615856 HGNC:25440 "ENST00000321196.8|NM_152588.3" HGNC:25440 HGNC:26899 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 protein-coding gene gene with protein product Approved 12q21.32 12q21.32 "FLJ90492|SMILE" transmembrane and tetratricopeptide repeat containing 3 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2023-01-20 160418 ENSG00000139324 OTTHUMG00000169887 uc001tau.3 NM_181783 CCDS9032 Q6ZXV5 MGI:3036255 RGD:1306351 617218 HGNC:26899 "ENST00000266712.11|NM_181783.4" HGNC:26899 -HGNC:25904 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 "FLJ14624|FLJ22153" transmembrane and tetratricopeptide repeat containing 4 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2023-01-20 84899 ENSG00000125247 OTTHUMG00000017289 uc001vou.5 NM_032813 "CCDS41904|CCDS9497|CCDS66575" Q5T4D3 MGI:1921050 RGD:1560183 618203 HGNC:25904 "ENST00000342624.10|NM_032813.5" +HGNC:25904 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 "FLJ14624|FLJ22153" transmembrane and tetratricopeptide repeat containing 4 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2023-01-20 84899 ENSG00000125247 OTTHUMG00000017289 uc001vou.5 NM_032813 "CCDS66575|CCDS41904|CCDS9497" Q5T4D3 MGI:1921050 RGD:1560183 618203 HGNC:25904 "ENST00000342624.10|NM_032813.5" HGNC:21709 TMUB1 transmembrane and ubiquitin like domain containing 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "SB144|HOPS" hepatocyte odd protein shuttling C7orf21 "chromosome 7 open reading frame 21|transmembrane and ubiquitin-like domain containing 1" 2003-07-14 2006-06-27 2016-03-15 2023-01-20 83590 ENSG00000164897 OTTHUMG00000158621 uc003wjd.4 BC000936 NM_031434 CCDS5920 Q9BVT8 "16014383|31827061|31867855" MGI:1923764 RGD:735120 614792 HGNC:21709 "ENST00000297533.9|NM_001136044.2" -HGNC:28459 TMUB2 transmembrane and ubiquitin like domain containing 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MGC3123 transmembrane and ubiquitin-like domain containing 2 2006-06-27 2016-03-15 2023-01-20 79089 ENSG00000168591 OTTHUMG00000181811 uc002ifp.4 NM_177441 "CCDS82137|CCDS54134|CCDS11479" Q71RG4 "8619474|9110174" MGI:1919303 RGD:1304758 HGNC:28459 "ENST00000538716.7|NM_001076674.3" +HGNC:28459 TMUB2 transmembrane and ubiquitin like domain containing 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MGC3123 transmembrane and ubiquitin-like domain containing 2 2006-06-27 2016-03-15 2023-01-20 79089 ENSG00000168591 OTTHUMG00000181811 uc002ifp.4 NM_177441 "CCDS54134|CCDS82137|CCDS11479" Q71RG4 "8619474|9110174" MGI:1919303 RGD:1304758 HGNC:28459 "ENST00000538716.7|NM_001076674.3" HGNC:15487 TMX1 thioredoxin related transmembrane protein 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "TMX|PDIA11" "thioredoxin-related transmembrane protein|protein disulfide isomerase family A, member 11" "TXNDC|TXNDC1" "thioredoxin domain-containing|thioredoxin domain containing|thioredoxin domain containing 1|thioredoxin-related transmembrane protein 1" "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2001-04-23 2009-02-23 2016-02-01 2023-01-20 81542 ENSG00000139921 OTTHUMG00000171003 uc001wza.5 AB048246 NM_030755 CCDS41953 Q9H3N1 11152479 MGI:1919986 RGD:1308455 610527 HGNC:15487 "ENST00000457354.7|NM_030755.5" HGNC:56777 TMX1P1 TMX1 pseudogene 1 pseudogene pseudogene Approved 7p14.1 07p14.1 2023-04-18 2023-04-18 100101126 ENSG00000236015 NG_006154 HGNC:56778 TMX1P2 TMX1 pseudogene 2 pseudogene pseudogene Approved 8q13.3 08q13.3 2023-04-18 2023-04-18 100101127 ENSG00000271113 NG_006155 @@ -39309,23 +39312,23 @@ HGNC:11894 TNFAIP1 TNF alpha induced protein 1 protein-coding gene gene with pro HGNC:11895 TNFAIP2 TNF alpha induced protein 2 protein-coding gene gene with protein product Approved 14q32.32 14q32.32 "B94|EXOC3L3" exocyst complex component 3-like 3 tumor necrosis factor, alpha-induced protein 2 1992-09-29 2015-11-23 2023-01-20 7127 ENSG00000185215 OTTHUMG00000171890 uc059fpb.1 NM_006291 CCDS9979 Q03169 1374453 MGI:104960 RGD:1594556 603300 HGNC:11895 "ENST00000560869.6|NM_006291.4" HGNC:11896 TNFAIP3 TNF alpha induced protein 3 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "A20|OTUD7C" tumor necrosis factor, alpha-induced protein 3 OTU domain containing 669 1992-10-20 2015-11-23 2023-01-20 7128 ENSG00000118503 OTTHUMG00000015664 uc031spv.2 M59465 NM_001270507 CCDS5187 P21580 2118515 MGI:1196377 RGD:1589275 TNFAIP3 191163 369146 C64.003 HGNC:11896 "ENST00000612899.5|NM_001270508.2" HGNC:11896 HGNC:11898 TNFAIP6 TNF alpha induced protein 6 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 "TSG6|TSG-6" tumor necrosis factor, alpha-induced protein 6 MicroRNA protein coding host genes 1691 1992-10-20 2015-11-23 2023-01-20 7130 ENSG00000123610 OTTHUMG00000131884 uc002txk.3 NM_007115 CCDS2193 P98066 "1730767|8568267|15060082" MGI:1195266 RGD:621359 600410 HGNC:11898 "ENST00000243347.5|NM_007115.4" -HGNC:17260 TNFAIP8 TNF alpha induced protein 8 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "GG2-1|MDC-3.13|SCC-S2" tumor necrosis factor, alpha-induced protein 8 2004-02-11 2015-11-23 2023-01-20 25816 ENSG00000145779 OTTHUMG00000162949 uc003ksg.5 AF070671 NM_014350 "CCDS47258|CCDS68933|CCDS47257" O95379 "10233894|10644768" MGI:2147191 RGD:1305908 612111 HGNC:17260 "ENST00000504771.3|NM_014350.4" +HGNC:17260 TNFAIP8 TNF alpha induced protein 8 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "GG2-1|MDC-3.13|SCC-S2" tumor necrosis factor, alpha-induced protein 8 2004-02-11 2015-11-23 2023-01-20 25816 ENSG00000145779 OTTHUMG00000162949 uc003ksg.5 AF070671 NM_014350 "CCDS68933|CCDS47258|CCDS47257" O95379 "10233894|10644768" MGI:2147191 RGD:1305908 612111 HGNC:17260 "ENST00000504771.3|NM_014350.4" HGNC:28279 TNFAIP8L1 TNF alpha induced protein 8 like 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC17791 tumor necrosis factor, alpha-induced protein 8-like 1 2005-05-16 2015-11-23 2023-01-20 126282 ENSG00000185361 OTTHUMG00000182013 uc002max.4 BC017672 NM_152362 CCDS12132 Q8WVP5 21924498 MGI:1913693 RGD:1588574 615869 HGNC:28279 "ENST00000327473.9|NM_152362.3" HGNC:26277 TNFAIP8L2 TNF alpha induced protein 8 like 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ23467 tumor necrosis factor, alpha-induced protein 8-like 2 2005-05-16 2015-11-23 2023-01-20 79626 ENSG00000163154 OTTHUMG00000012259 uc001ewx.2 BC063014 NM_024575 CCDS985 Q6P589 21924498 MGI:1917019 RGD:1310519 612112 HGNC:26277 "ENST00000368910.4|NM_024575.5" HGNC:20620 TNFAIP8L3 TNF alpha induced protein 8 like 3 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 FLJ41287 tumor necrosis factor, alpha-induced protein 8-like 3 2005-05-16 2015-11-23 2023-01-20 388121 ENSG00000183578 OTTHUMG00000172460 uc001zyy.5 AK123281 NM_207381 "CCDS81881|CCDS32241" Q5GJ75 21924498 MGI:2685363 RGD:1311533 616438 HGNC:20620 "ENST00000637513.2|NM_001311175.2" HGNC:11916 TNFRSF1A TNF receptor superfamily member 1A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "TNF-R|TNFAR|TNFR60|TNF-R-I|CD120a|TNF-R55" TNFR1 tumor necrosis factor receptor superfamily, member 1A "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1991-01-15 2016-06-28 2023-01-20 7132 ENSG00000067182 OTTHUMG00000168267 uc001qnu.4 M75866 NM_001065 CCDS8542 P19438 "1655358|2158863" MGI:1314884 RGD:621237 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_193|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_193.xml" 191190 120173 objectId:1870 CD120a HGNC:11916 "ENST00000162749.7|NM_001065.4" HGNC:11916 HGNC:11917 TNFRSF1B TNF receptor superfamily member 1B protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "TNFBR|TNFR80|TNF-R75|TNF-R-II|p75|CD120b" TNFR2 tumor necrosis factor receptor superfamily, member 1B "CD molecules|Tumor necrosis factor receptor superfamily|MicroRNA protein coding host genes" "471|782|1691" 1991-01-15 2016-06-28 2023-01-20 7133 ENSG00000028137 OTTHUMG00000001829 uc001att.4 M32315 NM_001066 CCDS145 P20333 "2158863|8702885" MGI:1314883 RGD:621238 191191 448527 objectId:1871 CD120b HGNC:11917 "ENST00000376259.7|NM_001066.3" -HGNC:11918 TNFRSF4 TNF receptor superfamily member 4 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "ACT35|OX40|CD134" TXGP1L tumor necrosis factor receptor superfamily, member 4 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1994-12-15 2016-06-28 2023-01-20 7293 ENSG00000186827 OTTHUMG00000001415 uc001ade.4 X75962 NM_001410709 "CCDS11|CCDS90838" P43489 "7510240|2828930" MGI:104512 RGD:3920 LRG_1319|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1319.xml 600315 434205 objectId:1873 CD134 HGNC:11918 "ENST00000379236.4|NM_003327.4" HGNC:11918 +HGNC:11918 TNFRSF4 TNF receptor superfamily member 4 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "ACT35|OX40|CD134" TXGP1L tumor necrosis factor receptor superfamily, member 4 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1994-12-15 2016-06-28 2023-01-20 7293 ENSG00000186827 OTTHUMG00000001415 uc001ade.4 X75962 NM_001410709 "CCDS90838|CCDS11" P43489 "7510240|2828930" MGI:104512 RGD:3920 LRG_1319|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1319.xml 600315 434205 objectId:1873 CD134 HGNC:11918 "ENST00000379236.4|NM_003327.4" HGNC:11918 HGNC:11921 TNFRSF6B TNF receptor superfamily member 6b protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "DcR3|DCR3|TR6|M68" tumor necrosis factor receptor superfamily, member 6b, decoy Tumor necrosis factor receptor superfamily 782 1999-01-07 2016-06-28 2023-01-20 8771 ENSG00000243509 OTTHUMG00000143724 uc002yfz.4 AF104419 NM_003823 CCDS13532 O95407 "9872321|10318773" 603361 objectId:2322 HGNC:11921 "ENST00000369996.3|NM_003823.4" HGNC:11923 TNFRSF8 TNF receptor superfamily member 8 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 KI-1 "CD30|D1S166E" tumor necrosis factor receptor superfamily, member 8 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1992-01-10 2016-06-28 2023-03-15 943 ENSG00000120949 OTTHUMG00000001827 uc001atq.3 M83554 NM_001243 "CCDS59989|CCDS144" P28908 "1330892|1310894" MGI:99908 RGD:3879 153243 objectId:1877 CD30 HGNC:11923 "ENST00000263932.7|NM_001243.5" HGNC:11924 TNFRSF9 TNF receptor superfamily member 9 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "CD137|4-1BB" ILA tumor necrosis factor receptor superfamily, member 9 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1996-06-12 2016-06-28 2023-01-20 3604 ENSG00000049249 OTTHUMG00000001223 uc001aot.4 L12964 NM_001561 CCDS92 Q07011 "8262389|8639902" MGI:1101059 RGD:1598208 602250 471244 objectId:1878 CD137 HGNC:11924 "ENST00000377507.8|NM_001561.6" HGNC:11904 TNFRSF10A TNF receptor superfamily member 10a protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DR4|Apo2|TRAILR-1|CD261|TRAILR1" tumor necrosis factor receptor superfamily, member 10a "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2023-01-20 8797 ENSG00000104689 OTTHUMG00000097843 uc003xda.4 U90875 NM_003844 CCDS6039 O00220 "9311998|9082980" MGI:1341090 RGD:1308041 603611 objectId:1879 CD261 HGNC:11904 "ENST00000221132.8|NM_003844.4" HGNC:53164 TNFRSF10A-AS1 TNFRSF10A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 RP11-1149O23.2 Antisense RNAs 1987 2017-03-03 2017-03-03 110806274 ENSG00000253930 OTTHUMG00000163783 27727196 HGNC:52647 TNFRSF10A-DT TNFRSF10A divergent transcript non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 "LOC389641|PLACT1" pancreatic cancer associated transcript 1 Divergent transcripts 1990 2021-04-29 2023-03-08 389641 ENSG00000246582 NR_033928 "26708505|32085715" -HGNC:11905 TNFRSF10B TNF receptor superfamily member 10b protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DR5|KILLER|TRICK2A|TRAIL-R2|TRICKB|CD262|TRAILR2" tumor necrosis factor receptor superfamily, member 10b "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2023-01-20 8795 ENSG00000120889 OTTHUMG00000097826 uc003xcu.4 AF012628 NM_147187 "CCDS6035|CCDS6036" O14763 "9285725|9311998" MGI:1341090 603612 objectId:1880 CD262 HGNC:11905 "ENST00000276431.9|NM_003842.5" HGNC:11905 +HGNC:11905 TNFRSF10B TNF receptor superfamily member 10b protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DR5|KILLER|TRICK2A|TRAIL-R2|TRICKB|CD262|TRAILR2" tumor necrosis factor receptor superfamily, member 10b "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2023-01-20 8795 ENSG00000120889 OTTHUMG00000097826 uc003xcu.4 AF012628 NM_147187 "CCDS6036|CCDS6035" O14763 "9285725|9311998" MGI:1341090 603612 objectId:1880 CD262 HGNC:11905 "ENST00000276431.9|NM_003842.5" HGNC:11905 HGNC:11906 TNFRSF10C TNF receptor superfamily member 10c protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DcR1|TRAILR3|LIT|TRID|CD263" tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2023-01-20 8794 ENSG00000173535 OTTHUMG00000097844 uc003xcy.4 AF012536 NM_003841 CCDS6037 O14798 "9314565|9325248" MGI:1341090 RGD:1586688 603613 objectId:2323 CD263 HGNC:11906 "ENST00000356864.4|NM_003841.5" HGNC:11907 TNFRSF10D TNF receptor superfamily member 10d protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DcR2|TRUNDD|TRAILR4|CD264" tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2023-01-20 8793 ENSG00000173530 OTTHUMG00000097845 uc003xcz.4 AF029761 NM_003840 CCDS6038 Q9UBN6 "9382840|9537512" MGI:1341090 603614 objectId:2324 CD264 HGNC:11907 "ENST00000312584.4|NM_003840.5" -HGNC:11908 TNFRSF11A TNF receptor superfamily member 11a protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "RANK|CD265|FEO|ODFR|TRANCE-R" "osteoclast differentiation factor receptor|receptor activator of nuclear factor kappa B|familial expansile osteolysis|TRANCE receptor" "PDB2|LOH18CR1" "tumor necrosis factor receptor superfamily, member 11a, activator of NFKB|Paget disease of bone 2|loss of heterozygosity, 18, chromosomal region 1|tumor necrosis factor receptor superfamily, member 11a, NFKB activator" "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2023-03-15 8792 ENSG00000141655 OTTHUMG00000132779 uc002lin.5 AF018253 NM_001270949 "CCDS59324|CCDS11980" Q9Y6Q6 "9367155|10615125" MGI:1314891 RGD:1563614 LRG_194|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_194.xml 603499 120160 objectId:1881 CD265 HGNC:11908 "ENST00000586569.3|NM_003839.4" HGNC:11908 +HGNC:11908 TNFRSF11A TNF receptor superfamily member 11a protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "RANK|CD265|FEO|ODFR|TRANCE-R" "osteoclast differentiation factor receptor|receptor activator of nuclear factor kappa B|familial expansile osteolysis|TRANCE receptor" "PDB2|LOH18CR1" "tumor necrosis factor receptor superfamily, member 11a, activator of NFKB|Paget disease of bone 2|loss of heterozygosity, 18, chromosomal region 1|tumor necrosis factor receptor superfamily, member 11a, NFKB activator" "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2023-03-15 8792 ENSG00000141655 OTTHUMG00000132779 uc002lin.5 AF018253 NM_001270949 "CCDS11980|CCDS59324" Q9Y6Q6 "9367155|10615125" MGI:1314891 RGD:1563614 LRG_194|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_194.xml 603499 120160 objectId:1881 CD265 HGNC:11908 "ENST00000586569.3|NM_003839.4" HGNC:11908 HGNC:11909 TNFRSF11B TNF receptor superfamily member 11b protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "OCIF|TR1" osteoclastogenesis inhibitory factor OPG "osteoprotegerin|tumor necrosis factor receptor superfamily, member 11b" Tumor necrosis factor receptor superfamily 782 1997-09-05 2016-06-28 2023-01-20 4982 ENSG00000164761 OTTHUMG00000164969 uc003yon.5 U94332 NM_002546 CCDS6326 O00300 9108485 MGI:109587 RGD:619802 602643 120164 objectId:1882 HGNC:11909 "ENST00000297350.9|NM_002546.4" HGNC:11909 HGNC:18152 TNFRSF12A TNF receptor superfamily member 12A protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FN14|TweakR|CD266" tumor necrosis factor receptor superfamily, member 12A "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 2002-12-20 2016-06-28 2023-01-20 51330 ENSG00000006327 OTTHUMG00000129001 uc002csv.5 AB035480 NM_016639 Q9NP84 "10751351|10551889" MGI:1351484 RGD:631329 605914 objectId:1884 CD266 HGNC:18152 "ENST00000326577.9|NM_016639.3" HGNC:18153 TNFRSF13B TNF receptor superfamily member 13B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "TACI|CD267|IGAD2" tumor necrosis factor receptor superfamily, member 13B "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 2002-05-22 2016-06-28 2023-01-20 23495 ENSG00000240505 OTTHUMG00000059262 uc002gqs.2 AF023614 NM_012452 CCDS11181 O14836 9311921 MGI:1889411 RGD:1595998 "TNFRSF13Bbase: Mutation registry for TACI deficiency|http://structure.bmc.lu.se/idbase/TNFRSF13Bbase/|LRG_120|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_120.xml" 604907 120169 objectId:1885 CD267 HGNC:18153 "ENST00000261652.7|NM_012452.3" HGNC:18153 @@ -39333,28 +39336,28 @@ HGNC:17755 TNFRSF13C TNF receptor superfamily member 13C protein-coding gene gen HGNC:11912 TNFRSF14 TNF receptor superfamily member 14 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "HVEM|ATAR|TR2|LIGHTR|HVEA|CD270" herpesvirus entry mediator "tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)|tumor necrosis factor receptor superfamily, member 14" "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2023-01-20 8764 ENSG00000157873 OTTHUMG00000000792 uc001ajr.4 U70321 NM_001297605 CCDS44046 Q92956 "8898196|9162061" MGI:2675303 RGD:1310115 TNFRSF14 602746 objectId:1887 CD270 HGNC:11912 "ENST00000355716.5|NM_003820.4" HGNC:26966 TNFRSF14-AS1 TNFRSF14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 ENST00000416860.2 Antisense RNAs 1987 2017-04-27 2017-04-27 115110 ENSG00000238164 OTTHUMG00000000818 NR_037844 28418905 HGNC:26966 HGNC:11913 TNFRSF17 TNF receptor superfamily member 17 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "BCM|CD269|TNFRSF13A" BCMA tumor necrosis factor receptor superfamily, member 17 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1992-11-20 2016-06-28 2023-01-20 608 ENSG00000048462 OTTHUMG00000129826 uc002dbv.3 Z29574 NM_001192 CCDS10552 Q02223 "1396583|8165126" MGI:1343050 RGD:1304703 TNFRSF17 109545 objectId:1889 CD269 HGNC:11913 "ENST00000053243.6|NM_001192.3" -HGNC:11914 TNFRSF18 TNF receptor superfamily member 18 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "AITR|GITR|CD357" tumor necrosis factor receptor superfamily, member 18 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2023-01-20 8784 ENSG00000186891 OTTHUMG00000001414 uc001add.4 AF125304 NM_004195 "CCDS10|CCDS9|CCDS30552" Q9Y5U5 "9177197|10037686" MGI:894675 RGD:1565872 603905 objectId:1890 HGNC:11914 "ENST00000379268.7|NM_004195.3" -HGNC:11915 TNFRSF19 TNF receptor superfamily member 19 protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "TAJ-alpha|TROY|TAJ|TRADE" toxicity and JNK inducer tumor necrosis factor receptor superfamily, member 19 Tumor necrosis factor receptor superfamily 782 2000-01-11 2016-06-28 2023-01-20 55504 ENSG00000127863 OTTHUMG00000016568 uc001uov.2 AB040434 NM_018647 "CCDS9301|CCDS9302|CCDS55893" Q9NS68 "10764796|10809768" MGI:1352474 RGD:1564996 606122 objectId:1891 HGNC:11915 "ENST00000248484.9|NM_148957.4" +HGNC:11914 TNFRSF18 TNF receptor superfamily member 18 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "AITR|GITR|CD357" tumor necrosis factor receptor superfamily, member 18 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2023-01-20 8784 ENSG00000186891 OTTHUMG00000001414 uc001add.4 AF125304 NM_004195 "CCDS30552|CCDS10|CCDS9" Q9Y5U5 "9177197|10037686" MGI:894675 RGD:1565872 603905 objectId:1890 HGNC:11914 "ENST00000379268.7|NM_004195.3" +HGNC:11915 TNFRSF19 TNF receptor superfamily member 19 protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "TAJ-alpha|TROY|TAJ|TRADE" toxicity and JNK inducer tumor necrosis factor receptor superfamily, member 19 Tumor necrosis factor receptor superfamily 782 2000-01-11 2016-06-28 2023-01-20 55504 ENSG00000127863 OTTHUMG00000016568 uc001uov.2 AB040434 NM_018647 "CCDS55893|CCDS9301|CCDS9302" Q9NS68 "10764796|10809768" MGI:1352474 RGD:1564996 606122 objectId:1891 HGNC:11915 "ENST00000248484.9|NM_148957.4" HGNC:13469 TNFRSF21 TNF receptor superfamily member 21 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "DR6|CD358" death receptor 6 tumor necrosis factor receptor superfamily, member 21 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 2001-07-27 2016-06-28 2023-01-20 27242 ENSG00000146072 OTTHUMG00000014796 uc003oyv.5 AF068868 NM_014452 CCDS4921 O75509 9714541 MGI:2151075 RGD:1307308 605732 objectId:1893 HGNC:13469 "ENST00000296861.2|NM_014452.5" -HGNC:11910 TNFRSF25 TNF receptor superfamily member 25 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "DR3|TRAMP|WSL-1|LARD|WSL-LR|DDR3|TR3|APO-3" TNFRSF12 "tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)|tumor necrosis factor receptor superfamily, member 25" Tumor necrosis factor receptor superfamily 782 1998-12-04 2002-12-20 2016-06-28 2023-03-15 8718 ENSG00000215788 OTTHUMG00000000831 uc001anh.4 U72763 NM_148965 "CCDS75|CCDS74|CCDS71|CCDS72|CCDS73" Q93038 "9052839|8934525" MGI:1934667 RGD:1598206 603366 objectId:1883 HGNC:11910 "ENST00000356876.8|NM_003790.3" -HGNC:11934 TNFSF4 TNF superfamily member 4 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "OX-40L|gp34|CD252" TXGP1 "tax-transcriptionally activated glycoprotein 1, 34kD|tumor necrosis factor (ligand) superfamily, member 4" "CD molecules|Tumor necrosis factor superfamily" "471|781" 1993-12-15 2017-03-02 2023-01-20 7292 ENSG00000117586 OTTHUMG00000034838 uc001giw.4 D90224 NM_001297562 "CCDS72985|CCDS1306" P23510 "1996093|8076595" MGI:104511 RGD:619816 603594 369265 ligandId:5076 CD252 HGNC:11934 "ENST00000281834.4|NM_003326.5" +HGNC:11910 TNFRSF25 TNF receptor superfamily member 25 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "DR3|TRAMP|WSL-1|LARD|WSL-LR|DDR3|TR3|APO-3" TNFRSF12 "tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)|tumor necrosis factor receptor superfamily, member 25" Tumor necrosis factor receptor superfamily 782 1998-12-04 2002-12-20 2016-06-28 2023-03-15 8718 ENSG00000215788 OTTHUMG00000000831 uc001anh.4 U72763 NM_148965 "CCDS75|CCDS72|CCDS74|CCDS73|CCDS71" Q93038 "9052839|8934525" MGI:1934667 RGD:1598206 603366 objectId:1883 HGNC:11910 "ENST00000356876.8|NM_003790.3" +HGNC:11934 TNFSF4 TNF superfamily member 4 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "OX-40L|gp34|CD252" TXGP1 "tax-transcriptionally activated glycoprotein 1, 34kD|tumor necrosis factor (ligand) superfamily, member 4" "CD molecules|Tumor necrosis factor superfamily" "471|781" 1993-12-15 2017-03-02 2023-01-20 7292 ENSG00000117586 OTTHUMG00000034838 uc001giw.4 D90224 NM_001297562 "CCDS1306|CCDS72985" P23510 "1996093|8076595" MGI:104511 RGD:619816 603594 369265 ligandId:5076 CD252 HGNC:11934 "ENST00000281834.4|NM_003326.5" HGNC:11938 TNFSF8 TNF superfamily member 8 protein-coding gene gene with protein product Approved 9q32-q33.1 09q32-q33.1 CD153 CD30LG tumor necrosis factor (ligand) superfamily, member 8 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1993-11-08 2017-03-02 2023-01-20 944 ENSG00000106952 OTTHUMG00000021025 uc004bji.3 L09753 NM_001244 "CCDS75884|CCDS6810" P32971 "8391931|9349718" MGI:88328 RGD:1590403 603875 ligandId:5080 CD153 HGNC:11938 "ENST00000223795.3|NM_001244.4" HGNC:11939 TNFSF9 TNF superfamily member 9 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "4-1BB-L|4-1BBL|CD137L" "receptor 4-1BB ligand|homolog of mouse 4-1BB-L|CD137 ligand" tumor necrosis factor (ligand) superfamily, member 9 Tumor necrosis factor superfamily 781 1998-12-04 2017-03-02 2023-01-20 8744 ENSG00000125657 OTTHUMG00000181831 uc002mfh.2 U03398 NM_003811 CCDS12169 P41273 "8405064|8088337" MGI:1101058 RGD:727974 606182 ligandId:5081 HGNC:11939 "ENST00000245817.5|NM_003811.4" HGNC:11925 TNFSF10 TNF superfamily member 10 protein-coding gene gene with protein product Approved 3q26 03q26 "TRAIL|Apo-2L|TL2|CD253|TANCR" tumor necrosis factor (ligand) superfamily, member 10 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1998-12-04 2017-03-02 2023-01-25 8743 ENSG00000121858 OTTHUMG00000156917 uc003fid.3 U37518 NM_001190942 P50591 "8777713|8663110" MGI:107414 RGD:628734 603598 ligandId:5065 CD253 HGNC:11925 "ENST00000241261.7|NM_003810.4" HGNC:11926 TNFSF11 TNF superfamily member 11 protein-coding gene gene with protein product Approved 13q14 13q14 "TRANCE|RANKL|OPGL|ODF|CD254" tumor necrosis factor (ligand) superfamily, member 11 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1998-12-04 2017-03-02 2023-01-20 8600 ENSG00000120659 OTTHUMG00000016807 uc001uyu.3 AF013171 NM_003701 O14788 "9312132|9367155" MGI:1100089 RGD:620784 602642 159048 ligandId:5066 CD254 HGNC:11926 "ENST00000398795.7|NM_003701.4" HGNC:11926 HGNC:11927 TNFSF12 TNF superfamily member 12 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "TWEAK|DR3LG|APO3L" tumor necrosis factor (ligand) superfamily, member 12 Tumor necrosis factor superfamily 781 1998-12-04 2017-03-02 2023-03-15 8742 ENSG00000239697 OTTHUMG00000108148 uc002ghg.4 AF030099 NM_003809 CCDS11109 O43508 "9405449|9560343" MGI:1196259 RGD:1359620 LRG_1320|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1320.xml 602695 332459 ligandId:5067 HGNC:11927 "ENST00000293825.11|NM_003809.3" HGNC:11927 HGNC:33537 TNFSF12-TNFSF13 TNFSF12-TNFSF13 readthrough other readthrough Approved 17p13.1 17p13.1 TWE-PRIL 2007-07-31 2023-03-15 407977 ENSG00000248871 OTTHUMG00000161573 uc002ghi.2 AY081051 NM_172089 12411489 "MGI:1196259|MGI:3845075" HGNC:33537 -HGNC:11928 TNFSF13 TNF superfamily member 13 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "APRIL|CD256" tumor necrosis factor (ligand) superfamily, member 13 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1998-12-04 2017-03-02 2023-01-20 8741 ENSG00000161955 OTTHUMG00000108145 uc002ghk.3 AF046888 NM_003808 "CCDS56018|CCDS73957|CCDS11111|CCDS11112|CCDS56019|CCDS42256" O75888 9743536 MGI:1916833 RGD:1305871 604472 ligandId:5068 CD256 HGNC:11928 "ENST00000338784.9|NM_003808.4" HGNC:11928 +HGNC:11928 TNFSF13 TNF superfamily member 13 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "APRIL|CD256" tumor necrosis factor (ligand) superfamily, member 13 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1998-12-04 2017-03-02 2023-01-20 8741 ENSG00000161955 OTTHUMG00000108145 uc002ghk.3 AF046888 NM_003808 "CCDS56019|CCDS73957|CCDS11111|CCDS11112|CCDS42256|CCDS56018" O75888 9743536 MGI:1916833 RGD:1305871 604472 ligandId:5068 CD256 HGNC:11928 "ENST00000338784.9|NM_003808.4" HGNC:11928 HGNC:11929 TNFSF13B TNF superfamily member 13b protein-coding gene gene with protein product Approved 13q33.3 13q33.3 "BAFF|THANK|BLYS|TALL-1|TALL1|CD257" "B-cell-activating factor|TNF and ApoL-related leukocyte expressed ligand 1|TNF homolog that activates apoptosis|B-lymphocyte stimulator" TNFSF20 tumor necrosis factor (ligand) superfamily, member 13b "CD molecules|Tumor necrosis factor superfamily" "471|781" 1999-07-19 2017-03-02 2023-01-20 10673 ENSG00000102524 OTTHUMG00000017329 uc001vqr.4 AF136293 NM_006573 "CCDS45067|CCDS9509" Q9Y275 "10331498|10359578" MGI:1344376 RGD:1561519 603969 ligandId:5069 CD257 HGNC:11929 "ENST00000375887.9|NM_006573.5" -HGNC:11930 TNFSF14 TNF superfamily member 14 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "LIGHT|LTg|HVEM-L|CD258" tumor necrosis factor (ligand) superfamily, member 14 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1998-12-04 2017-03-02 2023-01-20 8740 ENSG00000125735 OTTHUMG00000181835 uc002mfk.3 AF036581 NM_001376887 "CCDS45939|CCDS12171" O43557 9462508 MGI:1355317 RGD:1588572 604520 ligandId:5070 CD258 HGNC:11930 "ENST00000675206.1|NM_001376887.1" +HGNC:11930 TNFSF14 TNF superfamily member 14 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "LIGHT|LTg|HVEM-L|CD258" tumor necrosis factor (ligand) superfamily, member 14 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1998-12-04 2017-03-02 2023-01-20 8740 ENSG00000125735 OTTHUMG00000181835 uc002mfk.3 AF036581 NM_001376887 "CCDS12171|CCDS45939" O43557 9462508 MGI:1355317 RGD:1588572 604520 ligandId:5070 CD258 HGNC:11930 "ENST00000675206.1|NM_001376887.1" HGNC:11931 TNFSF15 TNF superfamily member 15 protein-coding gene gene with protein product Approved 9q32 09q32 "TL1|VEGI|TL1A|VEGI192A|MGC129934|MGC129935" "vascular endothelial cell growth inhibitor|TNF superfamily ligand TL1A|TNF ligand-related molecule 1|vascular endothelial growth inhibitor-192A" tumor necrosis factor (ligand) superfamily, member 15 Tumor necrosis factor superfamily 781 1998-12-04 2017-03-02 2023-01-20 9966 ENSG00000181634 OTTHUMG00000021011 uc004bjh.4 AF039390 NM_005118 CCDS6809 O95150 9434163 MGI:2180140 RGD:628735 604052 317398 ligandId:5071 HGNC:11931 "ENST00000374045.5|NM_005118.4" HGNC:11932 TNFSF18 TNF superfamily member 18 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "AITRL|TL6|hGITRL" tumor necrosis factor (ligand) superfamily, member 18 Tumor necrosis factor superfamily 781 1999-01-15 2017-03-02 2023-01-20 8995 ENSG00000120337 OTTHUMG00000034835 uc001giu.3 AF117713 NM_005092 CCDS1305 Q9UNG2 "10037686|10074428" MGI:2673064 RGD:1305066 603898 ligandId:5072 HGNC:11932 "ENST00000404377.5|NM_005092.4" -HGNC:30765 TNIK TRAF2 and NCK interacting kinase protein-coding gene gene with protein product Approved 3q26.2-q26.31 03q26.2-q26.31 KIAA0551 MicroRNA protein coding host genes 1691 2004-02-26 2023-01-20 23043 ENSG00000154310 OTTHUMG00000159036 uc003fhh.3 AF172264 NM_015028 "CCDS54674|CCDS46956|CCDS54676|CCDS54675|CCDS54673|CCDS54678|CCDS54677|CCDS54679" Q9UKE5 "9628581|10521462" MGI:1916264 RGD:1561817 610005 461336 objectId:2244 HGNC:30765 "ENST00000436636.7|NM_015028.4" HGNC:30765 -HGNC:16903 TNIP1 TNFAIP3 interacting protein 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "NAF1|KIAA0113|ABIN-1|VAN" "virion-associated nuclear-shuttling protein|Nef-associated factor 1 SNP" 2002-10-03 2023-01-20 10318 ENSG00000145901 OTTHUMG00000163722 uc003ltj.4 AJ011895 NM_006058 "CCDS58983|CCDS58985|CCDS58982|CCDS75359|CCDS58984|CCDS34280" Q15025 "9923610|11090181" MGI:1926194 RGD:1309380 607714 369132 HGNC:16903 "ENST00000521591.6|NM_006058.5" +HGNC:30765 TNIK TRAF2 and NCK interacting kinase protein-coding gene gene with protein product Approved 3q26.2-q26.31 03q26.2-q26.31 KIAA0551 MicroRNA protein coding host genes 1691 2004-02-26 2023-01-20 23043 ENSG00000154310 OTTHUMG00000159036 uc003fhh.3 AF172264 NM_015028 "CCDS54676|CCDS54674|CCDS54679|CCDS54678|CCDS46956|CCDS54677|CCDS54673|CCDS54675" Q9UKE5 "9628581|10521462" MGI:1916264 RGD:1561817 610005 461336 objectId:2244 HGNC:30765 "ENST00000436636.7|NM_015028.4" HGNC:30765 +HGNC:16903 TNIP1 TNFAIP3 interacting protein 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "NAF1|KIAA0113|ABIN-1|VAN" "virion-associated nuclear-shuttling protein|Nef-associated factor 1 SNP" 2002-10-03 2023-01-20 10318 ENSG00000145901 OTTHUMG00000163722 uc003ltj.4 AJ011895 NM_006058 "CCDS58985|CCDS58983|CCDS75359|CCDS34280|CCDS58984|CCDS58982" Q15025 "9923610|11090181" MGI:1926194 RGD:1309380 607714 369132 HGNC:16903 "ENST00000521591.6|NM_006058.5" HGNC:19118 TNIP2 TNFAIP3 interacting protein 2 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "ABIN-2|MGC4289|KLIP|FLIP1" 2002-10-03 2023-01-20 79155 ENSG00000168884 OTTHUMG00000090267 uc003gfg.2 BC002740 NM_024309 "CCDS3362|CCDS75093|CCDS54714" Q8NFZ5 "11390377|12933576" MGI:2386643 RGD:1307717 610669 HGNC:19118 "ENST00000315423.12|NM_024309.4" HGNC:54936 TNIP2P1 TNIP2 pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-29 2020-04-29 100132831 ENSG00000237661 NR_027761 -HGNC:19315 TNIP3 TNFAIP3 interacting protein 3 protein-coding gene gene with protein product Approved 4q27 04q27 "LIND|FLJ21162|ABIN-3" 2002-11-28 2023-01-20 79931 ENSG00000050730 OTTHUMG00000132969 uc010ing.4 AJ320534 NM_024873 "CCDS58926|CCDS58925|CCDS3718" Q96KP6 11345586 MGI:3041165 RGD:1588732 608019 HGNC:19315 "ENST00000057513.8|NM_024873.6" -HGNC:11940 TNK1 tyrosine kinase non receptor 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KOS1 tyrosine kinase, non-receptor, 1 TNK family tyrosine kinases 1643 1998-12-03 2016-04-28 2023-01-20 8711 ENSG00000174292 OTTHUMG00000178174 uc002ggj.5 U43408 NM_003985 "CCDS45602|CCDS58510" Q13470 8632913 MGI:1930958 RGD:1310113 608076 objectId:2245 HGNC:11940 "ENST00000688331.1|NM_003985.6" +HGNC:19315 TNIP3 TNFAIP3 interacting protein 3 protein-coding gene gene with protein product Approved 4q27 04q27 "LIND|FLJ21162|ABIN-3" 2002-11-28 2023-01-20 79931 ENSG00000050730 OTTHUMG00000132969 uc010ing.4 AJ320534 NM_024873 "CCDS3718|CCDS58926|CCDS58925" Q96KP6 11345586 MGI:3041165 RGD:1588732 608019 HGNC:19315 "ENST00000057513.8|NM_024873.6" +HGNC:11940 TNK1 tyrosine kinase non receptor 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KOS1 tyrosine kinase, non-receptor, 1 TNK family tyrosine kinases 1643 1998-12-03 2016-04-28 2023-01-20 8711 ENSG00000174292 OTTHUMG00000178174 uc002ggj.5 U43408 NM_003985 "CCDS58510|CCDS45602" Q13470 8632913 MGI:1930958 RGD:1310113 608076 objectId:2245 HGNC:11940 "ENST00000688331.1|NM_003985.6" HGNC:19297 TNK2 tyrosine kinase non receptor 2 protein-coding gene gene with protein product Approved 3q29 03q29 "p21cdc42Hs|ACK|ACK1" activated Cdc42-associated kinase 1 tyrosine kinase, non-receptor, 2 "TNK family tyrosine kinases|MicroRNA protein coding host genes" "1643|1691" 2005-01-19 2016-04-28 2023-01-20 10188 ENSG00000061938 OTTHUMG00000155737 uc003fvu.2 L13738 NM_005781 "CCDS93442|CCDS77875|CCDS33927|CCDS93443|CCDS33928|CCDS93440|CCDS93441" Q07912 "8497321|14506255" MGI:1858308 RGD:1305957 606994 392281 objectId:2246 HGNC:19297 "ENST00000672887.2|NM_001382273.1" HGNC:19297 HGNC:49093 TNK2-AS1 TNK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Antisense RNAs 1987 2013-09-02 2021-09-22 100128262 ENSG00000224614 OTTHUMG00000155738 AK127609 NR_145450 34494305 TNK2-AS1 HGNC:49093 HGNC:11941 TNKS tankyrase protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "TIN1|TINF1|TNKS1|PARP-5a|PARP5A|pART5|ARTD5" TRF1-interacting ankyrin-related ADP-ribose polymerase 1 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase "Ankyrin repeat domain containing|Poly(ADP-ribose) polymerases|Sterile alpha motif domain containing|MicroRNA protein coding host genes" "403|684|760|1691" 1999-01-08 2016-03-01 2023-01-20 8658 ENSG00000173273 OTTHUMG00000090481 uc003wss.4 AF082556 NM_003747 CCDS5974 O95271 "9822378|10198177" MGI:1341087 RGD:1308784 603303 objectId:3108 HGNC:11941 "ENST00000310430.11|NM_003747.3" @@ -39369,35 +39372,35 @@ HGNC:11945 TNNI1 troponin I1, slow skeletal type protein-coding gene gene with p HGNC:11946 TNNI2 troponin I2, fast skeletal type protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FSSV|DA2B|fsTnI" "troponin I, fast-twitch skeletal muscle isoform|troponin I fast twitch 2" AMCD2B "troponin I, skeletal, fast|arthrogryposis multiplex congenita, distal, type 2B|troponin I type 2 (skeletal, fast)" Troponin complex subunits 1219 1989-12-11 2016-02-16 2023-01-20 7136 ENSG00000130598 OTTHUMG00000012253 uc057xue.1 L21715 NM_003282 "CCDS53594|CCDS31333" P48788 "9016781|12592607" MGI:105070 RGD:62050 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TNNI2|LRG_851|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_851.xml" 191043 120182 HGNC:11946 "ENST00000381911.6|NM_003282.4" HGNC:11946 HGNC:11947 TNNI3 troponin I3, cardiac type protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "TNNC1|CMH7|cTNI" CMD2A "cardiomyopathy, dilated 2A (autosomal recessive)|troponin I type 3 (cardiac)|troponin I type 3" Troponin complex subunits 1219 1989-12-11 2016-02-16 2023-01-20 7137 ENSG00000129991 OTTHUMG00000180589 uc002qjg.5 M64247 NM_000363 CCDS42628 P19429 "9605869|9241277|10806205" MGI:98783 RGD:62052 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_432|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_432.xml" 191044 120184 HGNC:11947 "ENST00000344887.10|NM_000363.5" HGNC:11947 HGNC:19661 TNNI3K TNNI3 interacting kinase protein-coding gene gene with protein product Approved 1p31.1 01p31.1 CARK Ankyrin repeat domain containing 403 2004-01-19 2023-01-20 51086 ENSG00000116783 OTTHUMG00000171318 uc001dgf.3 AF116826 NM_015978 CCDS664 Q59H18 12721663 MGI:2443276 RGD:727908 LRG_678|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_678.xml 613932 444714 objectId:2247 HGNC:19661 "ENST00000326637.8|NM_015978.3" HGNC:19661 -HGNC:11948 TNNT1 troponin T1, slow skeletal type protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ANM|STNT|TNT|TNTS|FLJ98147|MGC104241|NEM5" "slow skeletal muscle troponin T|troponin T1, skeletal, slow|nemaline myopathy type 5" troponin T type 1 (skeletal, slow) Troponin complex subunits 1219 1990-09-10 2016-02-16 2023-01-20 7138 ENSG00000105048 OTTHUMG00000180542 uc002qjb.5 NM_003283 "CCDS12917|CCDS59421|CCDS46185" P13805 1505979 MGI:1333868 RGD:621852 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TNNT1|LRG_679|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_679.xml" 191041 120188 HGNC:11948 "ENST00000588981.6|NM_003283.6" HGNC:11948 -HGNC:11949 TNNT2 troponin T2, cardiac type protein-coding gene gene with protein product Approved 1q32.1 01q32.1 CMPD2 "CMH2|CMD1D" "cardiomyopathy, hypertrophic 2|cardiomyopathy, dilated 1D (autosomal dominant)|troponin T type 2 (cardiac)" Troponin complex subunits 1219 1993-09-27 2016-02-16 2023-03-15 7139 ENSG00000118194 OTTHUMG00000035733 uc057ohe.1 X74819 NM_000364 "CCDS73003|CCDS30968|CCDS30969|CCDS73002|CCDS60390" P45379 "8088824|8205619|9482583" MGI:104597 RGD:3882 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_431|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_431.xml" 191045 120190 HGNC:11949 "ENST00000656932.1|NM_001276345.2" HGNC:11949 -HGNC:11950 TNNT3 troponin T3, fast skeletal type protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "AMCD2B|DA2B|FSSV|DKFZp779M2348" troponin-T3, skeletal, fast "troponin T3, skeletal, fast|troponin T type 3 (skeletal, fast)" Troponin complex subunits 1219 1994-07-25 2016-02-16 2023-01-20 7140 ENSG00000130595 OTTHUMG00000012475 uc001luu.5 M21984 NM_006757 "CCDS41595|CCDS41594|CCDS91406|CCDS7727|CCDS91403|CCDS86164|CCDS41596" P45378 8172653 MGI:109550 RGD:3883 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TNNT3|LRG_850|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_850.xml" 600692 120192 HGNC:11950 "ENST00000278317.11|NM_006757.4" HGNC:11950 +HGNC:11948 TNNT1 troponin T1, slow skeletal type protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ANM|STNT|TNT|TNTS|FLJ98147|MGC104241|NEM5" "slow skeletal muscle troponin T|troponin T1, skeletal, slow|nemaline myopathy type 5" troponin T type 1 (skeletal, slow) Troponin complex subunits 1219 1990-09-10 2016-02-16 2023-01-20 7138 ENSG00000105048 OTTHUMG00000180542 uc002qjb.5 NM_003283 "CCDS46185|CCDS59421|CCDS12917" P13805 1505979 MGI:1333868 RGD:621852 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TNNT1|LRG_679|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_679.xml" 191041 120188 HGNC:11948 "ENST00000588981.6|NM_003283.6" HGNC:11948 +HGNC:11949 TNNT2 troponin T2, cardiac type protein-coding gene gene with protein product Approved 1q32.1 01q32.1 CMPD2 "CMH2|CMD1D" "cardiomyopathy, hypertrophic 2|cardiomyopathy, dilated 1D (autosomal dominant)|troponin T type 2 (cardiac)" Troponin complex subunits 1219 1993-09-27 2016-02-16 2023-03-15 7139 ENSG00000118194 OTTHUMG00000035733 uc057ohe.1 X74819 NM_000364 "CCDS30969|CCDS30968|CCDS73002|CCDS60390|CCDS73003" P45379 "8088824|8205619|9482583" MGI:104597 RGD:3882 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_431|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_431.xml" 191045 120190 HGNC:11949 "ENST00000656932.1|NM_001276345.2" HGNC:11949 +HGNC:11950 TNNT3 troponin T3, fast skeletal type protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "AMCD2B|DA2B|FSSV|DKFZp779M2348" troponin-T3, skeletal, fast "troponin T3, skeletal, fast|troponin T type 3 (skeletal, fast)" Troponin complex subunits 1219 1994-07-25 2016-02-16 2023-01-20 7140 ENSG00000130595 OTTHUMG00000012475 uc001luu.5 M21984 NM_006757 "CCDS41595|CCDS86164|CCDS91406|CCDS7727|CCDS91403|CCDS41596|CCDS41594" P45378 8172653 MGI:109550 RGD:3883 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TNNT3|LRG_850|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_850.xml" 600692 120192 HGNC:11950 "ENST00000278317.11|NM_006757.4" HGNC:11950 HGNC:11951 TNP1 transition protein 1 protein-coding gene gene with protein product Approved 2q35 02q35 spermatid nuclear transition protein 1 transition protein 1 (during histone to protamine replacement) 1990-03-14 2015-11-19 2023-01-20 7141 ENSG00000118245 OTTHUMG00000133057 uc002vgk.4 NM_003284 CCDS2406 P09430 2249851 MGI:98784 RGD:3884 190231 HGNC:11951 "ENST00000236979.2|NM_003284.4" HGNC:11952 TNP2 transition protein 2 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 TP2 transition protein 2 (during histone to protamine replacement) 1990-03-14 2016-07-19 2023-01-20 7142 ENSG00000178279 OTTHUMG00000172315 uc002das.4 NM_005425 CCDS45410 Q05952 "1395729|2250010" MGI:98785 RGD:3885 190232 HGNC:11952 "ENST00000312693.4|NM_005425.5" -HGNC:6401 TNPO1 transportin 1 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "MIP|TRN|IPO2|MIP1" importin 2 KPNB2 karyopherin (importin) beta 2 "Importins|Armadillo like helical domain containing|MicroRNA protein coding host genes" "596|1492|1691" 1997-04-21 2004-01-30 2004-01-29 2023-01-20 3842 ENSG00000083312 OTTHUMG00000100967 uc003kci.5 U70322 NM_002270 "CCDS93733|CCDS43329|CCDS4016|CCDS93732" Q92973 "8808633|9144189" MGI:2681523 RGD:1308372 602901 HGNC:6401 "ENST00000337273.10|NM_002270.4" HGNC:6401 +HGNC:6401 TNPO1 transportin 1 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "MIP|TRN|IPO2|MIP1" importin 2 KPNB2 karyopherin (importin) beta 2 "Importins|Armadillo like helical domain containing|MicroRNA protein coding host genes" "596|1492|1691" 1997-04-21 2004-01-30 2004-01-29 2023-01-20 3842 ENSG00000083312 OTTHUMG00000100967 uc003kci.5 U70322 NM_002270 "CCDS93732|CCDS43329|CCDS4016|CCDS93733" Q92973 "8808633|9144189" MGI:2681523 RGD:1308372 602901 HGNC:6401 "ENST00000337273.10|NM_002270.4" HGNC:6401 HGNC:40328 TNPO1-DT TNPO1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 Divergent transcripts 1990 2021-04-23 2021-04-23 121232377 ENSG00000249085 OTTHUMG00000162494 XR_007058815 HGNC:45120 TNPO1P1 transportin 1 pseudogene 1 pseudogene pseudogene Approved 10q23.1 10q23.1 2013-02-15 2013-02-15 100418919 ENSG00000225423 OTTHUMG00000018640 NG_025528 PGOHUM00000238863 HGNC:45120 HGNC:45121 TNPO1P2 transportin 1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2013-02-15 2013-05-20 252968 ENSG00000230662 OTTHUMG00000059250 NG_001592 PGOHUM00000237258 HGNC:45121 HGNC:50718 TNPO1P3 transportin 1 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-06-12 2014-06-12 339257 ENSG00000229586 OTTHUMG00000178885 NG_002721 PGOHUM00000264449 HGNC:50718 -HGNC:19998 TNPO2 transportin 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "IPO3|KPNB2B|FLJ12155|TRN2" "importin 3|karyopherin beta 2b" "Importins|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes" "596|1492|1835" 2003-12-09 2009-01-12 2023-01-20 30000 ENSG00000105576 OTTHUMG00000180333 uc002muq.4 AF019039 NM_013433 "CCDS45991|CCDS45992" O14787 "9298975|12384575" MGI:2384849 RGD:1310356 603002 HGNC:19998 "ENST00000425528.6|NM_001382241.1" -HGNC:17103 TNPO3 transportin 3 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "TRN-SR|MTR10A|TRN-SR2|IPO12" importin 12 LGMD1F limb girdle muscular dystrophy 1F (autosomal dominant) "Importins|Armadillo like helical domain containing" "596|1492" 2003-12-09 2023-01-20 23534 ENSG00000064419 OTTHUMG00000158409 uc003vol.3 AF145029 NM_012470 "CCDS94196|CCDS5809|CCDS55162" Q9Y5L0 "10366588|10713112|23543484|23667635" MGI:1196412 RGD:1308938 610032 239874 HGNC:17103 "ENST00000265388.10|NM_012470.4" HGNC:17103 +HGNC:19998 TNPO2 transportin 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "IPO3|KPNB2B|FLJ12155|TRN2" "importin 3|karyopherin beta 2b" "Importins|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes" "596|1492|1835" 2003-12-09 2009-01-12 2023-01-20 30000 ENSG00000105576 OTTHUMG00000180333 uc002muq.4 AF019039 NM_013433 "CCDS45992|CCDS45991" O14787 "9298975|12384575" MGI:2384849 RGD:1310356 603002 HGNC:19998 "ENST00000425528.6|NM_001382241.1" +HGNC:17103 TNPO3 transportin 3 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "TRN-SR|MTR10A|TRN-SR2|IPO12" importin 12 LGMD1F limb girdle muscular dystrophy 1F (autosomal dominant) "Importins|Armadillo like helical domain containing" "596|1492" 2003-12-09 2023-01-20 23534 ENSG00000064419 OTTHUMG00000158409 uc003vol.3 AF145029 NM_012470 "CCDS55162|CCDS94196|CCDS5809" Q9Y5L0 "10366588|10713112|23543484|23667635" MGI:1196412 RGD:1308938 610032 239874 HGNC:17103 "ENST00000265388.10|NM_012470.4" HGNC:17103 HGNC:55053 TNPO3P1 TNPO3 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 100131029 ENSG00000271686 NG_022629 HGNC:11953 TNR tenascin R protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "restrictin|janusin" Tenascins 1983 1995-10-24 2012-07-12 2023-01-20 7143 ENSG00000116147 OTTHUMG00000034876 uc009wwu.2 X98085 NM_003285 CCDS1318 Q92752 "8626505|8940128" MGI:99516 RGD:3886 601995 HGNC:11953 "ENST00000367674.7|NM_003285.3" HGNC:41391 TNR-IT1 TNR intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 TNR intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874256 ENSG00000235628 OTTHUMG00000034946 uc057nmr.1 TNR-IT1 -HGNC:11969 TNRC6A trinucleotide repeat containing adaptor 6A protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "CAGH26|KIAA1460|GW182" TNRC6 "trinucleotide repeat containing 6|trinucleotide repeat containing 6A" TNRC6 adaptor family 2051 2000-01-27 2004-12-17 2019-01-11 2023-01-20 27327 ENSG00000090905 OTTHUMG00000096999 uc002dmm.4 U80739 NM_020847 "CCDS81959|CCDS10624" Q8NDV7 "9225980|23150874" MGI:2385292 RGD:1307268 610739 HGNC:11969 "ENST00000395799.8|NM_014494.4" -HGNC:29190 TNRC6B trinucleotide repeat containing adaptor 6B protein-coding gene gene with protein product Approved 22q13.1 22q13.1 KIAA1093 trinucleotide repeat containing 6B "Armadillo like helical domain containing|TNRC6 adaptor family" "1492|2051" 2004-12-17 2019-01-11 2023-01-20 23112 ENSG00000100354 OTTHUMG00000151114 uc011aor.3 AB029016 NM_001024843 "CCDS54533|CCDS46712|CCDS46713" Q9UPQ9 29791863 MGI:2443730 RGD:621428 610740 HGNC:29190 "ENST00000454349.7|NM_001162501.2" HGNC:29190 +HGNC:11969 TNRC6A trinucleotide repeat containing adaptor 6A protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "CAGH26|KIAA1460|GW182" TNRC6 "trinucleotide repeat containing 6|trinucleotide repeat containing 6A" TNRC6 adaptor family 2051 2000-01-27 2004-12-17 2019-01-11 2023-01-20 27327 ENSG00000090905 OTTHUMG00000096999 uc002dmm.4 U80739 NM_020847 "CCDS10624|CCDS81959" Q8NDV7 "9225980|23150874" MGI:2385292 RGD:1307268 610739 HGNC:11969 "ENST00000395799.8|NM_014494.4" +HGNC:29190 TNRC6B trinucleotide repeat containing adaptor 6B protein-coding gene gene with protein product Approved 22q13.1 22q13.1 KIAA1093 trinucleotide repeat containing 6B "Armadillo like helical domain containing|TNRC6 adaptor family" "1492|2051" 2004-12-17 2019-01-11 2023-01-20 23112 ENSG00000100354 OTTHUMG00000151114 uc011aor.3 AB029016 NM_001024843 "CCDS54533|CCDS46713|CCDS46712" Q9UPQ9 29791863 MGI:2443730 RGD:621428 610740 HGNC:29190 "ENST00000454349.7|NM_001162501.2" HGNC:29190 HGNC:55373 TNRC6B-DT TNRC6B divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 Divergent transcripts 1990 2020-11-11 2020-11-11 114841040 ENSG00000261202 NR_163486 -HGNC:29318 TNRC6C trinucleotide repeat containing adaptor 6C protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1582|FLJ20015" trinucleotide repeat containing 6C TNRC6 adaptor family 2051 2004-12-17 2019-01-11 2023-03-15 57690 ENSG00000078687 OTTHUMG00000132642 uc060krg.1 AL834429 NM_018996 "CCDS45799|CCDS92403" Q9HCJ0 "19470757|26106978" MGI:2443265 RGD:1310027 610741 HGNC:29318 "ENST00000696270.1|NM_001142640.2" +HGNC:29318 TNRC6C trinucleotide repeat containing adaptor 6C protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1582|FLJ20015" trinucleotide repeat containing 6C TNRC6 adaptor family 2051 2004-12-17 2019-01-11 2023-03-15 57690 ENSG00000078687 OTTHUMG00000132642 uc060krg.1 AL834429 NM_018996 "CCDS92403|CCDS45799" Q9HCJ0 "19470757|26106978" MGI:2443265 RGD:1310027 610741 HGNC:29318 "ENST00000696270.1|NM_001142640.2" HGNC:11961 TNRC17 trinucleotide repeat containing 17 non-coding RNA RNA, long non-coding Approved 2q21.3 02q21.3 CAGL234 Long non-coding RNAs with non-systematic symbols 1992 2000-01-27 2019-06-28 27321 U80752 NR_146582 9225980 HGNC:11961 HGNC:11962 TNRC18 trinucleotide repeat containing 18 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "CAGL79|TNRC18A|KIAA1856" 2000-01-27 2023-01-20 84629 ENSG00000182095 OTTHUMG00000151831 uc003soi.5 U80753 NM_001080495 CCDS47534 O15417 9225980 MGI:3648294 RGD:1307540 HGNC:11962 "ENST00000430969.6|NM_001080495.3" HGNC:43881 TNRC18P1 trinucleotide repeat containing 18 pseudogene 1 pseudogene pseudogene Approved 4q31.21 04q31.21 2012-04-17 2015-02-27 2015-02-27 644962 ENSG00000249661 OTTHUMG00000161424 NR_077215 PGOHUM00000245713 HGNC:43881 HGNC:34014 TNRC18P2 trinucleotide repeat containing 18 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 TNRC18B trinucleotide repeat containing 18B 2008-12-10 2012-04-17 2012-04-17 2012-04-17 27320 ENSG00000223566 OTTHUMG00000156501 NG_009899 PGOHUM00000232790 HGNC:34014 HGNC:34015 TNRC18P3 trinucleotide repeat containing 18 pseudogene 3 pseudogene pseudogene Approved 7p11.2 07p11.2 TNRC18C trinucleotide repeat containing 18C (pseudogene) 2008-12-10 2012-04-17 2012-04-17 2014-11-19 340221 ENSG00000189166 OTTHUMG00000156098 NG_009812 PGOHUM00000233275 HGNC:34015 -HGNC:11973 TNS1 tensin 1 protein-coding gene gene with protein product Approved 2q35 02q35 "DKFZp586K0617|PPP1R155" protein phosphatase 1, regulatory subunit 155 "TNS|MXRA6" "tensin|matrix-remodelling associated 6" "Protein phosphatase 1 regulatory subunits|SH2 domain containing|C2 tensin-type domain containing|PTEN protein phosphatases|MicroRNA protein coding host genes" "694|741|837|902|1691" 1995-03-30 2005-05-13 2005-05-13 2023-01-20 7145 ENSG00000079308 OTTHUMG00000133056 uc002vgt.3 AB209238 NM_022648 "CCDS2407|CCDS92941|CCDS77528|CCDS77529" Q9HBL0 MGI:104552 RGD:68427 600076 HGNC:11973 "ENST00000682258.1|NM_001387777.1" +HGNC:11973 TNS1 tensin 1 protein-coding gene gene with protein product Approved 2q35 02q35 "DKFZp586K0617|PPP1R155" protein phosphatase 1, regulatory subunit 155 "TNS|MXRA6" "tensin|matrix-remodelling associated 6" "Protein phosphatase 1 regulatory subunits|SH2 domain containing|C2 tensin-type domain containing|PTEN protein phosphatases|MicroRNA protein coding host genes" "694|741|837|902|1691" 1995-03-30 2005-05-13 2005-05-13 2023-01-20 7145 ENSG00000079308 OTTHUMG00000133056 uc002vgt.3 AB209238 NM_022648 "CCDS92941|CCDS77529|CCDS77528|CCDS2407" Q9HBL0 MGI:104552 RGD:68427 600076 HGNC:11973 "ENST00000682258.1|NM_001387777.1" HGNC:40589 TNS1-AS1 TNS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2020-04-01 2020-04-01 105373878 ENSG00000223923 OTTHUMG00000155260 NR_135524 HGNC:19737 TNS2 tensin 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "KIAA1075|C1-TEN" TENC1 "tensin like C1 domain-containing phosphatase|tensin like C1 domain containing phosphatase (tensin 2)" "SH2 domain containing|C2 tensin-type domain containing|PTEN protein phosphatases|MicroRNA protein coding host genes" "741|837|902|1691" 2002-12-09 2015-01-09 2015-01-09 2023-01-20 23371 ENSG00000111077 OTTHUMG00000169730 AF518729 NM_170754 "CCDS8843|CCDS8844" Q63HR2 MGI:2387586 RGD:1310917 607717 HGNC:19737 "ENST00000314250.11|NM_170754.4" HGNC:27464 TNS2-AS1 TNS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 RP11-983P16.4 Antisense RNAs 1987 2021-12-06 2021-12-06 283335 ENSG00000257337 NR_033854 -HGNC:21616 TNS3 tensin 3 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "TEM6|H_NH0549I23.2|FLJ13732" tumor endothelial marker 6 TENS1 tensin-like SH2 domain-containing 1 "SH2 domain containing|C2 tensin-type domain containing" "741|837" 2003-08-27 2005-05-13 2005-05-13 2023-01-20 64759 ENSG00000136205 OTTHUMG00000074075 uc003tnw.3 AF378756 NM_022748 "CCDS5506|CCDS94100|CCDS94098" Q68CZ2 11559528 MGI:2443012 RGD:1564174 606825 HGNC:21616 "ENST00000311160.14|NM_022748.12" +HGNC:21616 TNS3 tensin 3 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "TEM6|H_NH0549I23.2|FLJ13732" tumor endothelial marker 6 TENS1 tensin-like SH2 domain-containing 1 "SH2 domain containing|C2 tensin-type domain containing" "741|837" 2003-08-27 2005-05-13 2005-05-13 2023-01-20 64759 ENSG00000136205 OTTHUMG00000074075 uc003tnw.3 AF378756 NM_022748 "CCDS94098|CCDS94100|CCDS5506" Q68CZ2 11559528 MGI:2443012 RGD:1564174 606825 HGNC:21616 "ENST00000311160.14|NM_022748.12" HGNC:24352 TNS4 tensin 4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 CTEN C terminal tensin like SH2 domain containing 741 2005-05-13 2023-01-20 84951 ENSG00000131746 OTTHUMG00000133330 uc010cxb.4 AF417488 NM_032865 CCDS11368 Q8IZW8 "12154022|12711115" MGI:2144377 RGD:1310402 608385 HGNC:24352 "ENST00000254051.11|NM_032865.6" HGNC:11975 TNXA tenascin XA (pseudogene) pseudogene pseudogene Approved 6p21.33 06p21.33 "XA|D6S103E|HXBL" TNX tenascin XA 1995-05-08 2011-04-15 2016-10-05 7146 ENSG00000248290 OTTHUMG00000031024 AF077974 NR_001284 Q16473 "2475872|1988494" RGD:3887 PGOHUM00000260124 HGNC:11975 HGNC:11976 TNXB tenascin XB protein-coding gene gene with protein product Approved 6p21.33-p21.32 06p21.33-p21.32 "TNXBS|XBS|XB|HXBL|TN-X|TNX" "Hexabrachion-like protein|tenascin-X" "TNXB1|TNXB2" Tenascins 1983 2000-07-25 2023-03-15 7148 ENSG00000168477 OTTHUMG00000031088 uc063nnw.1 X71923 NM_019105 "CCDS93886|CCDS4736" P22105 8530023 MGI:1932137 RGD:1594402 600985 120194 HGNC:11976 "ENST00000644971.2|NM_001365276.2" HGNC:11976 @@ -39405,16 +39408,16 @@ HGNC:11979 TOB1 transducer of ERBB2, 1 protein-coding gene gene with protein pro HGNC:44340 TOB1-AS1 TOB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 TOB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-14 2012-08-15 2022-10-13 400604 ENSG00000229980 OTTHUMG00000132428 uc060hnf.1 "BC039664|BP421960|BQ222352|BU600024" NR_038458 36002674 TOB1-AS1 HGNC:44340 HGNC:11980 TOB2 transducer of ERBB2, 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "TOBL|TOB4|bK223H9|APRO5" TROB2 BTG/Tob family 1309 2000-06-01 2023-01-20 10766 ENSG00000183864 OTTHUMG00000150970 uc003azz.2 D64109 NM_016272 CCDS14015 Q14106 "10602502|10591208" MGI:1888525 RGD:1359722 607396 HGNC:11980 "ENST00000327492.4|NM_016272.4" HGNC:13986 TOB2P1 transducer of ERBB2, 2 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "TOB4p|p373c6.3" TOB2P transducer of ERBB2, 2 pseudogene 2003-11-27 2010-02-26 2010-02-26 2014-11-19 222699 ENSG00000176933 OTTHUMG00000014512 BC050562 NR_002936 12477932 PGOHUM00000243100 HGNC:13986 -HGNC:56636 TODL transcript overexpressed in dedifferentiated liposarcoma non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long non-coding RNAs with non-systematic symbols 1992 2022-11-11 2022-11-11 107984471 XR_001749099 +HGNC:56636 TODL transcript overexpressed in dedifferentiated liposarcoma non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long non-coding RNAs with non-systematic symbols 1992 2022-11-11 2023-06-16 107984471 XR_001749099 36167276 HGNC:15954 TOE1 target of EGR1, exonuclease protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "hCaf1z|TOE-1" target of EGR1, member 1 (nuclear) PARN exonuclease family 2052 2001-08-24 2017-09-21 2023-01-20 114034 ENSG00000132773 OTTHUMG00000007678 uc009vxq.4 NM_025077 CCDS521 Q96GM8 12562764 MGI:1915526 RGD:1309094 613931 HGNC:15954 "ENST00000372090.6|NM_025077.4" HGNC:15954 -HGNC:19959 TOGARAM1 TOG array regulator of axonemal microtubules 1 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 "Crescerin-1|crescerin" crescerin "KIAA0423|FAM179B" "KIAA0423|family with sequence similarity 179, member B|family with sequence similarity 179 member B" TOG domain containing 1495 2003-11-21 2017-01-13 2017-01-13 2023-01-20 23116 ENSG00000198718 OTTHUMG00000140264 uc001wvv.4 AB007883 NM_001308120 "CCDS9681|CCDS76676" Q9Y4F4 26378256 MGI:2684313 RGD:1310474 617618 HGNC:19959 "ENST00000361462.7|NM_001308120.2" HGNC:19959 +HGNC:19959 TOGARAM1 TOG array regulator of axonemal microtubules 1 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 "Crescerin-1|crescerin" crescerin "KIAA0423|FAM179B" "KIAA0423|family with sequence similarity 179, member B|family with sequence similarity 179 member B" TOG domain containing 1495 2003-11-21 2017-01-13 2017-01-13 2023-01-20 23116 ENSG00000198718 OTTHUMG00000140264 uc001wvv.4 AB007883 NM_001308120 "CCDS76676|CCDS9681" Q9Y4F4 26378256 MGI:2684313 RGD:1310474 617618 HGNC:19959 "ENST00000361462.7|NM_001308120.2" HGNC:19959 HGNC:33715 TOGARAM2 TOG array regulator of axonemal microtubules 2 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "FLJ43249|LOC165186|Crescerin-2" crescerin 2 FAM179A "family with sequence similarity 179, member A|family with sequence similarity 179 member A" TOG domain containing 1495 2008-07-21 2017-01-13 2017-01-13 2023-01-20 165186 ENSG00000189350 OTTHUMG00000128432 uc010ezl.4 "AK125239|AK125744" NM_199280 CCDS1769 Q6ZUX3 "16344560|26378256" MGI:2443498 RGD:1310677 HGNC:33715 "ENST00000379558.5|NM_199280.4" -HGNC:16476 TOLLIP toll interacting protein protein-coding gene gene with protein product Approved 11p15.5 11p15.5 IL-1RAcPIP C2 domain containing 823 2003-03-13 2023-01-20 54472 ENSG00000078902 OTTHUMG00000133333 uc001lte.4 AJ242972 NM_019009 "CCDS7723|CCDS81532|CCDS81533|CCDS81534" Q9H0E2 "9426216|10854325" MGI:1891808 RGD:1304676 606277 HGNC:16476 "ENST00000317204.11|NM_019009.4" +HGNC:16476 TOLLIP toll interacting protein protein-coding gene gene with protein product Approved 11p15.5 11p15.5 IL-1RAcPIP C2 domain containing 823 2003-03-13 2023-01-20 54472 ENSG00000078902 OTTHUMG00000133333 uc001lte.4 AJ242972 NM_019009 "CCDS81534|CCDS81533|CCDS7723|CCDS81532" Q9H0E2 "9426216|10854325" MGI:1891808 RGD:1304676 606277 HGNC:16476 "ENST00000317204.11|NM_019009.4" HGNC:27403 TOLLIP-DT TOLLIP divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 TOLLIP-AS1 TOLLIP antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-31 2021-03-17 2021-03-17 2021-03-17 255512 ENSG00000255153 OTTHUMG00000166230 NR_029409 12477932 TOLLIP-AS1 HGNC:27403 -HGNC:11982 TOM1 target of myb1 membrane trafficking protein protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "target of myb1 (chicken) homolog|target of myb1 (chicken)" MicroRNA protein coding host genes 1691 1998-10-14 2015-06-18 2023-01-20 10043 ENSG00000100284 OTTHUMG00000150958 uc003ann.3 AJ006973 NM_005488 "CCDS46697|CCDS13913|CCDS46698|CCDS46696" O60784 "10329004|15047686|20604899" MGI:1338026 RGD:1308024 604700 HGNC:11982 "ENST00000449058.7|NM_005488.3" HGNC:11982 -HGNC:11983 TOM1L1 target of myb1 like 1 membrane trafficking protein protein-coding gene gene with protein product Approved 17q22 17q22 SRCASM "target of myb1 (chicken) homolog-like 1|target of myb1 (chicken)-like 1" 1998-10-14 2015-06-18 2023-01-20 10040 ENSG00000141198 OTTHUMG00000177816 uc002iud.3 AJ010071 NM_005486 "CCDS82161|CCDS82160|CCDS11582" O75674 "10329004|15611048|17977829" MGI:1919193 RGD:1562626 604701 HGNC:11983 "ENST00000575882.6|NM_005486.3" -HGNC:11984 TOM1L2 target of myb1 like 2 membrane trafficking protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "target of myb1 (chicken) homolog-like 1|target of myb1-like 2 (chicken)" 1999-04-16 2015-06-18 2023-01-20 146691 ENSG00000175662 OTTHUMG00000059353 uc002grz.5 AJ230803 NM_001033551 "CCDS74000|CCDS32584|CCDS74003|CCDS74002|CCDS42270|CCDS74001" Q6ZVM7 10036180 MGI:2443306 RGD:1306728 615519 HGNC:11984 "ENST00000379504.8|NM_001082968.2" -HGNC:31369 TOMM5 translocase of outer mitochondrial membrane 5 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "bA613M10.3|Tom5" C9orf105 "chromosome 9 open reading frame 105|translocase of outer mitochondrial membrane 5 homolog (yeast)" Translocase of outer mitochondrial membrane complex 1229 2004-06-02 2008-08-21 2016-02-26 2023-01-20 401505 ENSG00000175768 OTTHUMG00000019923 uc010mlx.4 BC029423 NM_001001790 "CCDS47968|CCDS47967|CCDS43803" Q8N4H5 18331822 MGI:1915762 RGD:1596808 616169 HGNC:31369 "ENST00000321301.7|NM_001001790.3" +HGNC:11982 TOM1 target of myb1 membrane trafficking protein protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "target of myb1 (chicken) homolog|target of myb1 (chicken)" MicroRNA protein coding host genes 1691 1998-10-14 2015-06-18 2023-01-20 10043 ENSG00000100284 OTTHUMG00000150958 uc003ann.3 AJ006973 NM_005488 "CCDS13913|CCDS46698|CCDS46696|CCDS46697" O60784 "10329004|15047686|20604899" MGI:1338026 RGD:1308024 604700 HGNC:11982 "ENST00000449058.7|NM_005488.3" HGNC:11982 +HGNC:11983 TOM1L1 target of myb1 like 1 membrane trafficking protein protein-coding gene gene with protein product Approved 17q22 17q22 SRCASM "target of myb1 (chicken) homolog-like 1|target of myb1 (chicken)-like 1" 1998-10-14 2015-06-18 2023-01-20 10040 ENSG00000141198 OTTHUMG00000177816 uc002iud.3 AJ010071 NM_005486 "CCDS11582|CCDS82161|CCDS82160" O75674 "10329004|15611048|17977829" MGI:1919193 RGD:1562626 604701 HGNC:11983 "ENST00000575882.6|NM_005486.3" +HGNC:11984 TOM1L2 target of myb1 like 2 membrane trafficking protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "target of myb1 (chicken) homolog-like 1|target of myb1-like 2 (chicken)" 1999-04-16 2015-06-18 2023-01-20 146691 ENSG00000175662 OTTHUMG00000059353 uc002grz.5 AJ230803 NM_001033551 "CCDS32584|CCDS74001|CCDS74000|CCDS74002|CCDS74003|CCDS42270" Q6ZVM7 10036180 MGI:2443306 RGD:1306728 615519 HGNC:11984 "ENST00000379504.8|NM_001082968.2" +HGNC:31369 TOMM5 translocase of outer mitochondrial membrane 5 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "bA613M10.3|Tom5" C9orf105 "chromosome 9 open reading frame 105|translocase of outer mitochondrial membrane 5 homolog (yeast)" Translocase of outer mitochondrial membrane complex 1229 2004-06-02 2008-08-21 2016-02-26 2023-01-20 401505 ENSG00000175768 OTTHUMG00000019923 uc010mlx.4 BC029423 NM_001001790 "CCDS47967|CCDS47968|CCDS43803" Q8N4H5 18331822 MGI:1915762 RGD:1596808 616169 HGNC:31369 "ENST00000321301.7|NM_001001790.3" HGNC:34528 TOMM6 translocase of outer mitochondrial membrane 6 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "OBTP|Tom6" over-expressed breast tumor protein translocase of outer mitochondrial membrane 6 homolog (yeast) Translocase of outer mitochondrial membrane complex 1229 2008-08-21 2016-02-26 2023-01-20 100188893 ENSG00000214736 OTTHUMG00000137505 uc011dug.2 AF216754 NM_001134493 CCDS47424 Q96B49 18331822 MGI:1913369 RGD:1583567 616168 HGNC:34528 "ENST00000398881.4|NM_001382294.1" HGNC:21648 TOMM7 translocase of outer mitochondrial membrane 7 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 Tom7 translocase of outer mitochondrial membrane 7 homolog (yeast) Translocase of outer mitochondrial membrane complex 1229 2003-07-21 2016-02-26 2023-01-20 54543 ENSG00000196683 OTTHUMG00000094805 uc003svk.6 AF150733 NM_019059 CCDS5376 Q9P0U1 "10647823|12198123" MGI:1913419 RGD:1591393 607980 HGNC:21648 "ENST00000358435.9|NM_019059.5" HGNC:20947 TOMM20 translocase of outer mitochondrial membrane 20 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "KIAA0016|TOM20|MOM19|MAS20" translocase of outer mitochondrial membrane 20 homolog type II translocase of outer mitochondrial membrane 20 homolog (yeast) "Translocase of outer mitochondrial membrane complex|Small nucleolar RNA protein coding host genes" "1229|1835" 2003-10-13 2016-02-26 2023-01-20 9804 ENSG00000173726 OTTHUMG00000039619 uc001hwl.4 NM_014765 CCDS1603 Q15388 "7498524|7589431|15733919" MGI:1915202 RGD:708467 601848 HGNC:20947 "ENST00000366607.5|NM_014765.3" @@ -39448,7 +39451,7 @@ HGNC:29787 TOP1MT DNA topoisomerase I mitochondrial protein-coding gene gene wit HGNC:11987 TOP1P1 DNA topoisomerase I pseudogene 1 pseudogene pseudogene Approved 1q24.3 01q24.3 1990-09-10 2017-08-04 2020-04-03 7151 ENSG00000285665 OTTHUMG00000035501 M55632 NR_002719 PGOHUM00000296655 HGNC:11987 HGNC:11988 TOP1P2 DNA topoisomerase I pseudogene 2 pseudogene pseudogene Approved 22q11.23 22q11.23 topoisomerase (DNA) I pseudogene 2 1990-09-10 2017-08-04 2017-08-04 7152 M55630 NR_001283 HGNC:11988 HGNC:11989 TOP2A DNA topoisomerase II alpha protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "TOP2alpha|TOPIIA" TOP2 topoisomerase (DNA) II alpha 170kDa Topoisomerases 1050 1989-03-23 2017-08-04 2023-01-20 7153 ENSG00000131747 OTTHUMG00000155008 uc002huq.4 NM_001067 CCDS45672 P11388 MGI:98790 RGD:62048 126430 353516 objectId:2637 5.99.1.2 HGNC:11989 "ENST00000423485.6|NM_001067.4" -HGNC:11990 TOP2B DNA topoisomerase II beta protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "top2beta|TOPIIB" topoisomerase (DNA) II beta 180kDa Topoisomerases 1050 1992-03-20 2017-08-04 2023-01-20 7155 ENSG00000077097 OTTHUMG00000155596 uc003cdj.4 X68060 NM_001068 "CCDS82746|CCDS46776" Q02880 "1309226|1333583" MGI:98791 RGD:1586156 126431 5.99.1.3 HGNC:11990 "ENST00000264331.9|NM_001330700.2" HGNC:11990 +HGNC:11990 TOP2B DNA topoisomerase II beta protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "top2beta|TOPIIB" topoisomerase (DNA) II beta 180kDa Topoisomerases 1050 1992-03-20 2017-08-04 2023-01-20 7155 ENSG00000077097 OTTHUMG00000155596 uc003cdj.4 X68060 NM_001068 "CCDS46776|CCDS82746" Q02880 "1309226|1333583" MGI:98791 RGD:1586156 126431 5.99.1.3 HGNC:11990 "ENST00000264331.9|NM_001330700.2" HGNC:11990 HGNC:11992 TOP3A DNA topoisomerase III alpha protein-coding gene gene with protein product Approved 17p11.2 17p11.2 ZGRF7 zinc finger, GRF-type containing 7 TOP3 topoisomerase (DNA) III alpha "Zinc fingers GRF-type|Topoisomerases" "135|1050" 1999-03-18 2017-08-04 2023-01-20 7156 ENSG00000177302 OTTHUMG00000059391 uc002gsx.1 U43431 NM_001320759 CCDS11194 Q13472 9450867 MGI:1197527 RGD:1309320 601243 5.99.1.2 HGNC:11992 "ENST00000321105.10|NM_004618.5" HGNC:11992 HGNC:11993 TOP3B DNA topoisomerase III beta protein-coding gene gene with protein product Approved 22q11.22 22q11.22 Topoisomerases 1050 1999-03-18 2017-08-04 2023-01-20 8940 ENSG00000100038 OTTHUMG00000167438 uc002zvt.6 AF017146 NM_003935 CCDS13797 O95985 "9786842|9074928" MGI:1333803 RGD:1309468 603582 HGNC:11993 "ENST00000357179.10|NM_001282112.2" HGNC:11994 TOP3BP1 DNA topoisomerase III beta pseudogene 1 pseudogene pseudogene Approved 22q11.22 22q11.22 TOP3B2 topoisomerase (DNA) III beta, 2 1999-10-29 2012-01-13 2017-08-04 2017-08-04 23751 ENSG00000228050 OTTHUMG00000151044 NG_000002 10591208 PGOHUM00000246269 HGNC:11994 @@ -39459,28 +39462,28 @@ HGNC:21653 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase HGNC:50276 TOPORSLP topoisomerase I binding, arginine and serine rich like, pseudogene pseudogene pseudogene Approved 9q31.1 09q31.1 TOPORSLP1 "topoisomerase I binding, arginine/serine-rich like, pseudogene 1|topoisomerase I binding, arginine and serine rich like, pseudogene 1" 2014-03-25 2018-01-12 2018-01-12 2020-08-14 347281 ENSG00000242111 OTTHUMG00000020402 NG_021672 MGI:1915524 RGD:1309291 PGOHUM00000304426 HGNC:50276 HGNC:3098 TOR1A torsin family 1 member A protein-coding gene gene with protein product Approved 9q34.11 09q34.11 DQ2 "torsin A|torsin-1A|torsinA" DYT1 "dystonia 1, torsion (autosomal dominant; torsin A)|torsin family 1, member A (torsin A)" Torsins 1831 1987-09-11 2004-11-26 2016-01-25 2023-01-20 1861 ENSG00000136827 OTTHUMG00000020794 uc004byl.4 AF007871 NM_000113 CCDS6930 O14656 "10644435|20169475" MGI:1353568 RGD:628863 LRG_1029|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1029.xml 605204 120201 HGNC:3098 "ENST00000351698.5|NM_000113.3" HGNC:3098 HGNC:29456 TOR1AIP1 torsin 1A interacting protein 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "LAP1B|FLJ13142|LAP1|LAP1C" lamina associated polypeptide 1B torsin A interacting protein 1 2005-06-07 2016-01-26 2023-01-20 26092 ENSG00000143337 OTTHUMG00000035257 uc001gnq.5 NM_015602 "CCDS1335|CCDS65737" Q5JTV8 "12061773|15767459" MGI:3582693 RGD:628851 614512 432014 HGNC:29456 "ENST00000606911.7|NM_015602.4" HGNC:29456 -HGNC:24055 TOR1AIP2 torsin 1A interacting protein 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "LULL1|NET9|IFRG15" torsin A interacting protein 2 2005-06-07 2016-01-26 2023-01-20 163590 ENSG00000169905 OTTHUMG00000035265 uc001gnn.4 NM_145034 "CCDS1334|CCDS53439" "Q8NFQ8|Q9H496" 15767459 MGI:3582695 RGD:735059 614513 HGNC:24055 "ENST00000609928.6|NM_001199260.2" +HGNC:24055 TOR1AIP2 torsin 1A interacting protein 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "LULL1|NET9|IFRG15" torsin A interacting protein 2 2005-06-07 2016-01-26 2023-01-20 163590 ENSG00000169905 OTTHUMG00000035265 uc001gnn.4 NM_145034 "CCDS53439|CCDS1334" "Q8NFQ8|Q9H496" 15767459 MGI:3582695 RGD:735059 614513 HGNC:24055 "ENST00000609928.6|NM_001199260.2" HGNC:11995 TOR1B torsin family 1 member B protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "DQ1|MGC4386" torsin B torsin family 1, member B (torsin B) Torsins 1831 2000-02-17 2016-01-25 2023-01-20 27348 ENSG00000136816 OTTHUMG00000020795 uc004byk.1 AF007872 NM_014506 CCDS6929 O14657 "9288096|10644435" MGI:1353605 RGD:1308431 608050 HGNC:11995 "ENST00000259339.7|NM_014506.3" HGNC:54599 TOR1BP1 TOR1B pseudogene 1 pseudogene pseudogene Approved 2p13.1 02p13.1 2019-10-16 2019-10-16 100420888 ENSG00000233872 NG_023570 -HGNC:11996 TOR2A torsin family 2 member A protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "FLJ14771|TORP1" torsin family 2, member A Torsins 1831 2000-02-17 2016-01-25 2023-01-20 27433 ENSG00000160404 OTTHUMG00000020706 uc004brs.5 AA873275 NM_130459 "CCDS48024|CCDS43879|CCDS6876|CCDS48025" "Q5JU69|Q8N2E6" 10644435 MGI:1353596 RGD:1359111 608052 HGNC:11996 "ENST00000373284.10|NM_001085347.3" +HGNC:11996 TOR2A torsin family 2 member A protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "FLJ14771|TORP1" torsin family 2, member A Torsins 1831 2000-02-17 2016-01-25 2023-01-20 27433 ENSG00000160404 OTTHUMG00000020706 uc004brs.5 AA873275 NM_130459 "CCDS43879|CCDS48024|CCDS48025|CCDS6876" "Q5JU69|Q8N2E6" 10644435 MGI:1353596 RGD:1359111 608052 HGNC:11996 "ENST00000373284.10|NM_001085347.3" HGNC:11997 TOR3A torsin family 3 member A protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "FLJ22345|ADIR2" ADIR "ATP-dependant interferon responsive|torsin family 3, member A" "Minor histocompatibility antigens|Torsins" "870|1831" 2000-02-17 2016-01-25 2023-01-20 64222 ENSG00000186283 OTTHUMG00000035077 uc001gmd.4 BC001085 NM_022371 CCDS1329 Q9H497 10644435 MGI:1353652 RGD:1310101 607555 HGNC:11997 "ENST00000367627.8|NM_022371.4" HGNC:25981 TOR4A torsin family 4 member A protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FLJ20245 C9orf167 "chromosome 9 open reading frame 167|torsin family 4, member A" Torsins 1831 2007-02-08 2012-04-03 2016-01-25 2023-01-20 54863 ENSG00000198113 OTTHUMG00000131779 uc004cmn.4 AK023361 NM_017723 CCDS7041 Q9NXH8 MGI:2442720 RGD:1308019 HGNC:25981 "ENST00000357503.3|NM_017723.3" HGNC:18988 TOX thymocyte selection associated high mobility group box protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "KIAA0808|TOX1" thymocyte selection associated high mobility group box family 2151 2007-03-20 2015-11-16 2023-01-20 9760 ENSG00000198846 OTTHUMG00000164331 uc003xtw.1 NM_014729 CCDS34897 O94900 "9872452|11850626" MGI:2181659 RGD:1310455 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=TOX 606863 HGNC:18988 "ENST00000361421.2|NM_014729.3" HGNC:55935 TOX-DT TOX divergent transcript non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 Divergent transcripts 1990 2021-11-08 2021-11-08 100505501 ENSG00000167912 NR_149030 -HGNC:16095 TOX2 TOX high mobility group box family member 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ1108D11.2|GCX-1" granulosa cell HMG box 1 C20orf100 chromosome 20 open reading frame 100 thymocyte selection associated high mobility group box family 2151 2001-07-17 2007-03-20 2007-03-20 2023-01-20 84969 ENSG00000124191 OTTHUMG00000032517 uc010ggo.4 BC007636 NM_001098796 "CCDS46603|CCDS42875|CCDS13324" Q96NM4 14764631 MGI:3611233 RGD:735184 611163 HGNC:16095 "ENST00000341197.9|NM_001098797.2" +HGNC:16095 TOX2 TOX high mobility group box family member 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ1108D11.2|GCX-1" granulosa cell HMG box 1 C20orf100 chromosome 20 open reading frame 100 thymocyte selection associated high mobility group box family 2151 2001-07-17 2007-03-20 2007-03-20 2023-01-20 84969 ENSG00000124191 OTTHUMG00000032517 uc010ggo.4 BC007636 NM_001098796 "CCDS42875|CCDS13324|CCDS46603" Q96NM4 14764631 MGI:3611233 RGD:735184 611163 HGNC:16095 "ENST00000341197.9|NM_001098797.2" HGNC:11972 TOX3 TOX high mobility group box family member 3 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 CAGF9 TNRC9 trinucleotide repeat containing 9 thymocyte selection associated high mobility group box family 2151 2000-01-27 2007-03-20 2007-03-20 2023-01-20 27324 ENSG00000103460 OTTHUMG00000173222 uc002egw.3 U80736 NM_001080430 "CCDS54008|CCDS54009" O15405 9225980 MGI:3039593 RGD:1311529 611416 HGNC:11972 "ENST00000219746.14|NM_001080430.4" HGNC:20161 TOX4 TOX high mobility group box family member 4 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 LCP1 "C14orf92|KIAA0737" "chromosome 14 open reading frame 92|KIAA0737" thymocyte selection associated high mobility group box family 2151 2002-12-19 2007-03-20 2007-03-20 2023-01-20 9878 ENSG00000092203 OTTHUMG00000150278 uc058zcl.1 AB018280 NM_014828 CCDS32043 O94842 MGI:1915389 RGD:708449 614032 HGNC:20161 "ENST00000448790.7|NM_014828.4" HGNC:44009 TOX4P1 TOX high mobility group box family member 4 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 2012-05-28 2012-05-28 285412 ENSG00000248697 OTTHUMG00000161064 NG_022072 PGOHUM00000246033 HGNC:44009 -HGNC:11998 TP53 tumor protein p53 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "p53|LFS1" Li-Fraumeni syndrome 1986-01-01 2008-01-16 2023-01-20 7157 ENSG00000141510 OTTHUMG00000162125 uc060aur.1 AF307851 NM_000546 "CCDS73971|CCDS73963|CCDS73964|CCDS73965|CCDS45606|CCDS73966|CCDS45605|CCDS11118|CCDS73969|CCDS73970|CCDS73967|CCDS73968" P04637 "6396087|3456488|2047879" MGI:98834 RGD:3889 "IARC TP53 Mutation Database|http://www-p53.iarc.fr/|p53 UMD TP53 mutation database|http://p53.fr/|Database of Germline p53 Mutations|http://www.lf2.cuni.cz/projects/germline_mut_p53.htm|MUTP53LOAD, Mutant p53 Loss Of Activity Database|http://www.umd.be:2072/|LRG_321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_321.xml" TP53 191170 120204 HGNC:11998 "ENST00000269305.9|NM_000546.6" HGNC:11998 -HGNC:29984 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 p53AIP1 2009-03-09 2009-03-09 2023-01-20 63970 ENSG00000120471 OTTHUMG00000165797 uc001qey.5 AB045831 NM_022112 "CCDS8480|CCDS55797|CCDS58195|CCDS55798" Q9HCN2 "11030628|12019168" 605426 HGNC:29984 "ENST00000531399.6|NM_022112.3" -HGNC:11999 TP53BP1 tumor protein p53 binding protein 1 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "53BP1|p202|TDRD30" tumor protein p53-binding protein, 1 Tudor domain containing 780 2000-06-24 2007-08-02 2023-01-20 7158 ENSG00000067369 OTTHUMG00000059757 uc001zrs.4 U09477 NM_001141979 "CCDS45251|CCDS91987|CCDS45250|CCDS10096" Q12888 "8016121|9748285" MGI:1351320 RGD:1308039 605230 HGNC:11999 "ENST00000382044.9|NM_001141980.3" -HGNC:12000 TP53BP2 tumor protein p53 binding protein 2 protein-coding gene gene with protein product Approved 1q41 01q41 "PPP1R13A|ASPP2|53BP2" tumor protein p53-binding protein, 2 "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits" "403|694" 1997-06-24 2014-06-24 2023-01-20 7159 ENSG00000143514 OTTHUMG00000037379 uc010pvb.3 U09582 "NM_001031685|NM_005426" "CCDS1538|CCDS44319" Q13625 "8668206|8016121" MGI:2138319 RGD:1305461 602143 HGNC:12000 "ENST00000343537.12|NM_001031685.3" HGNC:12000 +HGNC:11998 TP53 tumor protein p53 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "p53|LFS1" Li-Fraumeni syndrome 1986-01-01 2008-01-16 2023-01-20 7157 ENSG00000141510 OTTHUMG00000162125 uc060aur.1 AF307851 NM_000546 "CCDS73963|CCDS11118|CCDS73968|CCDS73966|CCDS45605|CCDS73969|CCDS45606|CCDS73964|CCDS73967|CCDS73965|CCDS73971|CCDS73970" P04637 "6396087|3456488|2047879" MGI:98834 RGD:3889 "IARC TP53 Mutation Database|http://www-p53.iarc.fr/|p53 UMD TP53 mutation database|http://p53.fr/|Database of Germline p53 Mutations|http://www.lf2.cuni.cz/projects/germline_mut_p53.htm|MUTP53LOAD, Mutant p53 Loss Of Activity Database|http://www.umd.be:2072/|LRG_321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_321.xml" TP53 191170 120204 HGNC:11998 "ENST00000269305.9|NM_000546.6" HGNC:11998 +HGNC:29984 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 p53AIP1 2009-03-09 2009-03-09 2023-01-20 63970 ENSG00000120471 OTTHUMG00000165797 uc001qey.5 AB045831 NM_022112 "CCDS58195|CCDS8480|CCDS55797|CCDS55798" Q9HCN2 "11030628|12019168" 605426 HGNC:29984 "ENST00000531399.6|NM_022112.3" +HGNC:11999 TP53BP1 tumor protein p53 binding protein 1 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "53BP1|p202|TDRD30" tumor protein p53-binding protein, 1 Tudor domain containing 780 2000-06-24 2007-08-02 2023-01-20 7158 ENSG00000067369 OTTHUMG00000059757 uc001zrs.4 U09477 NM_001141979 "CCDS45251|CCDS10096|CCDS45250|CCDS91987" Q12888 "8016121|9748285" MGI:1351320 RGD:1308039 605230 HGNC:11999 "ENST00000382044.9|NM_001141980.3" +HGNC:12000 TP53BP2 tumor protein p53 binding protein 2 protein-coding gene gene with protein product Approved 1q41 01q41 "PPP1R13A|ASPP2|53BP2" tumor protein p53-binding protein, 2 "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits" "403|694" 1997-06-24 2014-06-24 2023-01-20 7159 ENSG00000143514 OTTHUMG00000037379 uc010pvb.3 U09582 "NM_001031685|NM_005426" "CCDS44319|CCDS1538" Q13625 "8668206|8016121" MGI:2138319 RGD:1305461 602143 HGNC:12000 "ENST00000343537.12|NM_001031685.3" HGNC:12000 HGNC:16328 TP53BP2P1 tumor protein p53 binding protein 2 pseudogene 1 pseudogene pseudogene Approved 8p21.3 08p21.3 PPP1R13AP protein phosphatase 1, regulatory (inhibitor) subunit 13A pseudogene 2001-08-08 2011-10-04 2015-03-17 2021-07-13 94299 11948623 HGNC:43652 TP53COR1 tumor protein p53 pathway corepressor 1 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 "linc-p21|lincRNA-p21|Trp53cor1" tumor protein p53 pathway corepressor 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2015-03-25 2018-05-16 2018-05-16 102800311 CD515754 "20673990|22841487|24381249" MGI:3801771 616343 lincRNA-p21 HGNC:19373 TP53I3 tumor protein p53 inducible protein 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 PIG3 2003-03-20 2023-01-20 9540 ENSG00000115129 OTTHUMG00000090817 uc002rey.2 AF010309 NM_004881 "CCDS1708|CCDS56112" Q53FA7 "11919562|10840161|19349281" RGD:41235940 605171 HGNC:19373 "ENST00000238721.9|NM_004881.5" HGNC:16842 TP53I11 tumor protein p53 inducible protein 11 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 PIG11 2003-03-20 2023-01-20 9537 ENSG00000175274 OTTHUMG00000165714 uc031pzy.1 AF010315 NM_006034 CCDS7911 O14683 9305847 MGI:2670995 RGD:1308395 617867 HGNC:16842 "ENST00000525680.6|NM_006034.5" HGNC:25102 TP53I13 tumor protein p53 inducible protein 13 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 DSCP1 2006-01-16 2023-01-20 90313 ENSG00000167543 OTTHUMG00000179723 uc002hee.4 AK075341 NM_138349 CCDS42289 Q8NBR0 14767535 MGI:1915125 RGD:1559818 HGNC:25102 "ENST00000301057.8|NM_138349.4" -HGNC:18022 TP53INP1 tumor protein p53 inducible nuclear protein 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "DKFZp434M1317|FLJ22139|P53DINP1|SIP|TP53INP1A|TP53INP1B|Teap" 2002-01-21 2023-01-20 94241 ENSG00000164938 OTTHUMG00000164697 uc003yhg.4 AF409115 NM_001135733 "CCDS47899|CCDS6265" Q96A56 "11511362|12438758" MGI:1926609 RGD:631423 606185 HGNC:18022 "ENST00000342697.5|NM_033285.4" +HGNC:18022 TP53INP1 tumor protein p53 inducible nuclear protein 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "DKFZp434M1317|FLJ22139|P53DINP1|SIP|TP53INP1A|TP53INP1B|Teap" 2002-01-21 2023-01-20 94241 ENSG00000164938 OTTHUMG00000164697 uc003yhg.4 AF409115 NM_001135733 "CCDS6265|CCDS47899" Q96A56 "11511362|12438758" MGI:1926609 RGD:631423 606185 HGNC:18022 "ENST00000342697.5|NM_033285.4" HGNC:16104 TP53INP2 tumor protein p53 inducible nuclear protein 2 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "FLJ21759|FLJ23500|DKFZp434B2411|DKFZp434O0827|dJ1181N3.1|PINH|DOR" diabetes and obesity regulated C20orf110 chromosome 20 open reading frame 110 2001-07-17 2004-06-18 2004-06-18 2023-01-20 58476 ENSG00000078804 OTTHUMG00000032310 uc002xau.2 AL109824 NM_021202 CCDS13240 Q8IXH6 "15628030|27172002" MGI:1915978 RGD:735085 617549 HGNC:16104 "ENST00000374810.8|NM_021202.3" HGNC:16197 TP53RK TP53 regulating kinase protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ101A2.2|prpk|Nori-2p|BUD32|TPRKB" p53-related protein kinase C20orf64 chromosome 20 open reading frame 64 KEOPS complex 1313 2001-07-17 2004-05-12 2004-05-10 2023-01-20 112858 ENSG00000172315 OTTHUMG00000085887 uc002xsk.4 NM_033550 CCDS13401 Q96S44 "11546806|12914926" MGI:1918294 RGD:1591394 608679 objectId:2248 HGNC:16197 "ENST00000372114.4|NM_033550.4" HGNC:16197 HGNC:55243 TP53RK-DT TP53RK divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 Divergent transcripts 1990 2020-09-17 2020-09-17 118597844 ENSG00000271784 @@ -39494,21 +39497,21 @@ HGNC:51817 TP53TG3F TP53 target 3 family member F protein-coding gene gene with HGNC:51818 TP53TG3GP TP53 target 3 family member G, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 2015-06-12 2016-11-09 106660619 ENSG00000261274 OTTHUMG00000176240 NG_044941 PGOHUM00000293569 HGNC:51818 HGNC:51819 TP53TG3HP TP53 target 3 family member H, pseudogene pseudogene pseudogene Approved 16p11.1 16p11.1 2015-06-12 2016-11-15 100130700 ENSG00000269622 OTTHUMG00000176011 NR_034018 PGOHUM00000293585 HGNC:51819 HGNC:15856 TP53TG5 TP53 target 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CLG01|dJ453C12.5" C20orf10 chromosome 20 open reading frame 10 2001-06-21 2008-09-18 2008-09-18 2023-01-20 27296 ENSG00000124251 OTTHUMG00000032582 uc002xny.4 AB017802 NM_014477 CCDS13352 Q9Y2B4 MGI:1920853 RGD:1561934 617316 HGNC:15856 "ENST00000372726.5|NM_014477.3" HGNC:15856 -HGNC:15979 TP63 tumor protein p63 protein-coding gene gene with protein product Approved 3q28 03q28 "p51|SHFM4|EEC3|p63|p73L|OFC8|KET|p73H|NBP|p53CP|p40" "TP73L|TP53L|TP53CP" "tumor protein p73-like|tumor protein p53-like|tumor protein p53-competing protein" MicroRNA protein coding host genes 1691 2002-04-18 2023-01-20 8626 ENSG00000073282 OTTHUMG00000156313 uc003fsc.3 AB010153 NM_003722 "CCDS87180|CCDS87181|CCDS87179|CCDS82887|CCDS3293|CCDS46976|CCDS46980|CCDS46977|CCDS46978|CCDS46979" Q9H3D4 "9774969|9662378|11181441|11181451" MGI:1330810 RGD:620863 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TP63|LRG_428|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_428.xml" TP63 603273 120207 HGNC:15979 "ENST00000264731.8|NM_003722.5" HGNC:15979 -HGNC:12003 TP73 tumor protein p73 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 P73 1997-11-12 2023-01-20 7161 ENSG00000078900 OTTHUMG00000000610 uc001akp.4 AB055065 NM_005427 "CCDS55569|CCDS44049|CCDS44050|CCDS55566|CCDS59965|CCDS44051|CCDS55567|CCDS55568|CCDS49" O15350 "9296498|9288759" MGI:1336991 RGD:1307083 601990 440324 HGNC:12003 "ENST00000378295.9|NM_005427.4" -HGNC:40591 TP73-AS2 TP73 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 RP5-1092A11.2 Antisense RNAs 1987 2020-02-13 2020-02-13 117134600 ENSG00000235131 32043367 +HGNC:15979 TP63 tumor protein p63 protein-coding gene gene with protein product Approved 3q28 03q28 "p51|SHFM4|EEC3|p63|p73L|OFC8|KET|p73H|NBP|p53CP|p40" "TP73L|TP53L|TP53CP" "tumor protein p73-like|tumor protein p53-like|tumor protein p53-competing protein" MicroRNA protein coding host genes 1691 2002-04-18 2023-01-20 8626 ENSG00000073282 OTTHUMG00000156313 uc003fsc.3 AB010153 NM_003722 "CCDS87181|CCDS46977|CCDS46978|CCDS87180|CCDS3293|CCDS82887|CCDS87179|CCDS46980|CCDS46976|CCDS46979" Q9H3D4 "9774969|9662378|11181441|11181451" MGI:1330810 RGD:620863 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TP63|LRG_428|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_428.xml" TP63 603273 120207 HGNC:15979 "ENST00000264731.8|NM_003722.5" HGNC:15979 +HGNC:12003 TP73 tumor protein p73 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 P73 1997-11-12 2023-01-20 7161 ENSG00000078900 OTTHUMG00000000610 uc001akp.4 AB055065 NM_005427 "CCDS44050|CCDS55569|CCDS49|CCDS59965|CCDS55566|CCDS55568|CCDS44051|CCDS44049|CCDS55567" O15350 "9296498|9288759" MGI:1336991 RGD:1307083 601990 440324 HGNC:12003 "ENST00000378295.9|NM_005427.4" +HGNC:40591 TP73-AS2 TP73 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 RP5-1092A11.2 Antisense RNAs 1987 2020-02-13 2020-02-13 117134600 ENSG00000235131 NR_185884 32043367 HGNC:40590 TP73-AS3 TP73 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Antisense RNAs 1987 2020-04-01 2020-04-01 105378610 ENSG00000227589 OTTHUMG00000041605 XR_946888 HGNC:12004 TPBG trophoblast glycoprotein protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "5T4-AG|5T4" 1990-10-16 2023-01-20 7162 ENSG00000146242 OTTHUMG00000015103 uc063ptt.1 AJ012159 NM_001166392 CCDS4995 Q13641 8132670 MGI:1341264 RGD:621453 190920 objectId:3009 HGNC:12004 "ENST00000369750.4|NM_001376922.1" HGNC:44159 TPBGL trophoblast glycoprotein like protein-coding gene gene with protein product Approved 11q13.4 11q13.4 2012-07-02 2017-02-21 2023-01-20 100507050 ENSG00000261594 OTTHUMG00000165441 uc021qnk.2 BC007804 NM_001195528 CCDS60895 P0DKB5 MGI:3646425 RGD:1596774 HGNC:44159 "ENST00000562197.3|NM_001195528.2" HGNC:55506 TPBGL-AS1 TPBGL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2021-03-17 2021-03-17 120883615 ENSG00000255136 -HGNC:18182 TPCN1 two pore segment channel 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "KIAA1169|FLJ20612|TPC1" "Two pore segment channels|MicroRNA protein coding host genes" "247|1691" 2003-04-10 2023-01-20 53373 ENSG00000186815 OTTHUMG00000169625 uc001tuw.4 AB032995 NM_017901 "CCDS44985|CCDS31908|CCDS76605" Q9ULQ1 "10753632|16382101" MGI:2182472 RGD:708494 609666 objectId:392 HGNC:18182 "ENST00000335509.11|NM_017901.6" +HGNC:18182 TPCN1 two pore segment channel 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "KIAA1169|FLJ20612|TPC1" "Two pore segment channels|MicroRNA protein coding host genes" "247|1691" 2003-04-10 2023-01-20 53373 ENSG00000186815 OTTHUMG00000169625 uc001tuw.4 AB032995 NM_017901 "CCDS31908|CCDS44985|CCDS76605" Q9ULQ1 "10753632|16382101" MGI:2182472 RGD:708494 609666 objectId:392 HGNC:18182 "ENST00000335509.11|NM_017901.6" HGNC:20820 TPCN2 two pore segment channel 2 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 TPC2 "Two pore segment channels|MicroRNA protein coding host genes" "247|1691" 2003-04-10 2023-01-20 219931 ENSG00000162341 OTTHUMG00000167898 uc001oos.3 AK023366 NM_139075 CCDS8189 Q8NHX9 16382101 MGI:2385297 RGD:1311779 612163 objectId:393 HGNC:20820 "ENST00000294309.8|NM_139075.4" -HGNC:12005 TPD52 tumor protein D52 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "D52|hD52|N8L" 1996-04-30 2023-01-20 7163 ENSG00000076554 OTTHUMG00000164565 uc003ybr.3 U18914 NM_005079 "CCDS55249|CCDS47879|CCDS75757|CCDS75758|CCDS75759|CCDS34912" P55327 7796418 MGI:107749 RGD:1306767 604068 HGNC:12005 "ENST00000518937.6|NM_001025253.3" +HGNC:12005 TPD52 tumor protein D52 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "D52|hD52|N8L" 1996-04-30 2023-01-20 7163 ENSG00000076554 OTTHUMG00000164565 uc003ybr.3 U18914 NM_005079 "CCDS47879|CCDS75759|CCDS34912|CCDS75758|CCDS75757|CCDS55249" P55327 7796418 MGI:107749 RGD:1306767 604068 HGNC:12005 "ENST00000518937.6|NM_001025253.3" HGNC:12006 TPD52L1 TPD52 like 1 protein-coding gene gene with protein product Approved 6q22-q23 06q22-q23 "D53|hD53|TPD53" tumor protein D52 like 1 1996-04-30 2018-08-09 2023-01-20 7164 ENSG00000111907 OTTHUMG00000015505 uc003pzu.2 U44427 NM_001003395 Q16890 "8812487|16112108" MGI:1298386 RGD:1594796 604069 HGNC:12006 "ENST00000534000.6|NM_003287.4" -HGNC:12007 TPD52L2 TPD52 like 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "D54|hD54|TPD54" "tumor protein D52-like 2|tumor protein D52 like 2" 1998-04-02 2018-08-09 2023-01-20 7165 ENSG00000101150 OTTHUMG00000033009 uc002ygz.4 AF004430 NM_001243891 "CCDS13545|CCDS74753|CCDS13541|CCDS58785|CCDS13540|CCDS13542|CCDS13543|CCDS13544|CCDS74752" O43399 9484778 MGI:1913564 RGD:735167 603747 HGNC:12007 "ENST00000346249.9|NM_003288.4" -HGNC:23382 TPD52L3 TPD52 like 3 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "NYD-SP25|D55|TPD55" "tumor protein D52-like 3|tumor protein D52 like 3" 2005-11-22 2018-08-09 2023-01-20 89882 ENSG00000170777 OTTHUMG00000019518 uc003zjw.4 AY032877 NM_033516 "CCDS34986|CCDS34985|CCDS34984" Q96J77 MGI:1913995 RGD:1309391 617567 HGNC:23382 "ENST00000314556.4|NM_001001874.3" +HGNC:12007 TPD52L2 TPD52 like 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "D54|hD54|TPD54" "tumor protein D52-like 2|tumor protein D52 like 2" 1998-04-02 2018-08-09 2023-01-20 7165 ENSG00000101150 OTTHUMG00000033009 uc002ygz.4 AF004430 NM_001243891 "CCDS13544|CCDS74753|CCDS13543|CCDS13542|CCDS58785|CCDS13545|CCDS13541|CCDS13540|CCDS74752" O43399 9484778 MGI:1913564 RGD:735167 603747 HGNC:12007 "ENST00000346249.9|NM_003288.4" +HGNC:23382 TPD52L3 TPD52 like 3 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "NYD-SP25|D55|TPD55" "tumor protein D52-like 3|tumor protein D52 like 3" 2005-11-22 2018-08-09 2023-01-20 89882 ENSG00000170777 OTTHUMG00000019518 uc003zjw.4 AY032877 NM_033516 "CCDS34985|CCDS34984|CCDS34986" Q96J77 MGI:1913995 RGD:1309391 617567 HGNC:23382 "ENST00000314556.4|NM_001001874.3" HGNC:25058 TPGS1 tubulin polyglutamylase complex subunit 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "GTRGEO22|PGs1" polyglutamylase subunit 1 C19orf20 chromosome 19 open reading frame 20 Tubulin polyglutamylase complex subunits 2117 2004-03-16 2011-11-23 2011-11-23 2023-01-20 91978 ENSG00000141933 OTTHUMG00000180557 uc002lou.5 BC009520 NM_033513 CCDS42454 Q6ZTW0 "11441184|12972506" MGI:106618 RGD:1588613 HGNC:25058 "ENST00000359315.6|NM_033513.3" -HGNC:24561 TPGS2 tubulin polyglutamylase complex subunit 2 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "DKFZP586M1523|HsT3006|PGs2" polyglutamylase subunit 2 C18orf10 chromosome 18 open reading frame 10 Tubulin polyglutamylase complex subunits 2117 2004-01-08 2011-11-25 2011-11-25 2023-01-20 25941 ENSG00000134779 OTTHUMG00000178075 uc002kzw.3 BC015178 NM_015476 "CCDS74215|CCDS62424|CCDS74214|CCDS32817|CCDS62422|CCDS62423|CCDS82248|CCDS62421" Q68CL5 15890843 MGI:1913898 RGD:1310571 HGNC:24561 "ENST00000334295.9|NM_015476.4" +HGNC:24561 TPGS2 tubulin polyglutamylase complex subunit 2 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "DKFZP586M1523|HsT3006|PGs2" polyglutamylase subunit 2 C18orf10 chromosome 18 open reading frame 10 Tubulin polyglutamylase complex subunits 2117 2004-01-08 2011-11-25 2011-11-25 2023-01-20 25941 ENSG00000134779 OTTHUMG00000178075 uc002kzw.3 BC015178 NM_015476 "CCDS82248|CCDS74215|CCDS32817|CCDS74214|CCDS62422|CCDS62423|CCDS62421|CCDS62424" Q68CL5 15890843 MGI:1913898 RGD:1310571 HGNC:24561 "ENST00000334295.9|NM_015476.4" HGNC:12008 TPH1 tryptophan hydroxylase 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 tryptophan 5-monooxygenase "TPRH|TPH" tryptophan hydroxylase (tryptophan 5-monooxygenase) 2001-06-22 2003-04-04 2008-07-31 2023-01-20 7166 ENSG00000129167 OTTHUMG00000166421 uc001mnp.3 X52836 NM_004179 CCDS7829 P17752 1463016 MGI:98796 RGD:3895 191060 471246 objectId:1241 1.14.16.4 HGNC:12008 "ENST00000682019.1|NM_004179.3" HGNC:20692 TPH2 tryptophan hydroxylase 2 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "NTPH|FLJ37295" tryptophan 5-monooxygenase 2003-04-03 2023-01-20 121278 ENSG00000139287 OTTHUMG00000169677 uc009zrw.1 AY098914 NM_173353 CCDS31859 Q8IWU9 12511643 MGI:2651811 RGD:631332 607478 471248 objectId:1242 1.14.16.4 HGNC:20692 "ENST00000333850.4|NM_173353.4" HGNC:12009 TPI1 triosephosphate isomerase 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 2001-06-22 2023-01-20 7167 ENSG00000111669 OTTHUMG00000133767 uc058kmn.1 NM_000365 "CCDS53740|CCDS8566|CCDS58206" P60174 MGI:98797 RGD:3896 LRG_1126|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1126.xml 190450 120218 5.3.1.1 HGNC:12009 "ENST00000396705.10|NM_000365.6" HGNC:12009 @@ -39516,12 +39519,12 @@ HGNC:35449 TPI1P1 triosephosphate isomerase 1 pseudogene 1 pseudogene pseudogene HGNC:38069 TPI1P2 triosephosphate isomerase 1 pseudogene 2 pseudogene pseudogene Approved 7q32.1 07q32.1 2010-04-08 2014-11-19 286016 ENSG00000230359 OTTHUMG00000158411 NR_002187.2 PGOHUM00000233566 HGNC:38069 HGNC:38070 TPI1P3 triosephosphate isomerase 1 pseudogene 3 pseudogene pseudogene Approved 6q22.1 06q22.1 2010-04-08 2014-11-19 728402 ENSG00000186743 OTTHUMG00000015423 NR_027338.1 PGOHUM00000243749 HGNC:38070 HGNC:38071 TPI1P4 triosephosphate isomerase 1 pseudogene 4 pseudogene pseudogene Approved 4p11 04p11 2010-04-08 2015-01-28 728629 ENSG00000225455 OTTHUMG00000160137 NG_011550 PGOHUM00000257074 HGNC:38071 -HGNC:17358 TPK1 thiamin pyrophosphokinase 1 protein-coding gene gene with protein product Approved 7q35 07q35 "HTPK1|PP20" "placental protein 20|thiamine pyrophosphokinase 1|thiamine kinase|thiamine diphosphokinase" 2001-12-13 2023-01-20 27010 ENSG00000196511 OTTHUMG00000152774 uc003weq.3 AB028138 NM_022445 "CCDS5888|CCDS55178" Q9H3S4 11342111 MGI:1352500 RGD:1589408 606370 299186 HGNC:17358 "ENST00000360057.7|NM_022445.4" HGNC:17358 -HGNC:12010 TPM1 tropomyosin 1 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "C15orf13|CMH3" "chromosome 15 open reading frame 13|cardiomyopathy, hypertrophic 3|tropomyosin 1 (alpha)" Tropomyosins 777 1991-07-18 2017-05-24 2023-01-20 7168 ENSG00000140416 OTTHUMG00000132803 uc002alh.4 AB209041 NM_001018004 "CCDS32264|CCDS86459|CCDS32263|CCDS58368|CCDS58369|CCDS32262|CCDS92009|CCDS10181|CCDS92013|CCDS45273|CCDS92012|CCDS81894|CCDS92011|CCDS81892|CCDS81891|CCDS92010" P09493 "10343096|8205619|25369766" MGI:98809 RGD:3898 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_387|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_387.xml" 191010 120220 HGNC:12010 "ENST00000403994.9|NM_001018005.2" HGNC:12010 +HGNC:17358 TPK1 thiamin pyrophosphokinase 1 protein-coding gene gene with protein product Approved 7q35 07q35 "HTPK1|PP20" "placental protein 20|thiamine pyrophosphokinase 1|thiamine kinase|thiamine diphosphokinase" 2001-12-13 2023-01-20 27010 ENSG00000196511 OTTHUMG00000152774 uc003weq.3 AB028138 NM_022445 "CCDS55178|CCDS5888" Q9H3S4 11342111 MGI:1352500 RGD:1589408 606370 299186 HGNC:17358 "ENST00000360057.7|NM_022445.4" HGNC:17358 +HGNC:12010 TPM1 tropomyosin 1 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "C15orf13|CMH3" "chromosome 15 open reading frame 13|cardiomyopathy, hypertrophic 3|tropomyosin 1 (alpha)" Tropomyosins 777 1991-07-18 2017-05-24 2023-01-20 7168 ENSG00000140416 OTTHUMG00000132803 uc002alh.4 AB209041 NM_001018004 "CCDS58369|CCDS92011|CCDS86459|CCDS32263|CCDS32264|CCDS10181|CCDS81894|CCDS92012|CCDS58368|CCDS92009|CCDS45273|CCDS32262|CCDS92013|CCDS81892|CCDS81891|CCDS92010" P09493 "10343096|8205619|25369766" MGI:98809 RGD:3898 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_387|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_387.xml" 191010 120220 HGNC:12010 "ENST00000403994.9|NM_001018005.2" HGNC:12010 HGNC:53635 TPM1-AS TPM1 antisense RNA non-coding RNA RNA, long non-coding Approved 15q22.2 15q22.2 TPM1-AS1 TPM1 antisense RNA 1 Antisense RNAs 1987 2017-08-09 2018-09-12 111064646 ENSG00000259498 OTTHUMG00000172299 NR_147233 28754317 HGNC:53635 -HGNC:12011 TPM2 tropomyosin 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "DA1|NEM4" nemaline myopathy type 4 AMCD1 "arthrogryposis multiplex congenital, distal, type 1|tropomyosin 2 (beta)" Tropomyosins 777 1991-07-18 2017-05-24 2023-01-20 7169 ENSG00000198467 OTTHUMG00000019878 uc064syd.1 NM_003289 "CCDS6586|CCDS87651|CCDS78394|CCDS6587" P07951 "7606936|25369766" MGI:98810 RGD:1559479 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TPM2|LRG_680|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_680.xml" 190990 120223 HGNC:12011 "ENST00000645482.3|NM_003289.4" HGNC:12011 +HGNC:12011 TPM2 tropomyosin 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "DA1|NEM4" nemaline myopathy type 4 AMCD1 "arthrogryposis multiplex congenital, distal, type 1|tropomyosin 2 (beta)" Tropomyosins 777 1991-07-18 2017-05-24 2023-01-20 7169 ENSG00000198467 OTTHUMG00000019878 uc064syd.1 NM_003289 "CCDS6587|CCDS87651|CCDS78394|CCDS6586" P07951 "7606936|25369766" MGI:98810 RGD:1559479 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TPM2|LRG_680|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_680.xml" 190990 120223 HGNC:12011 "ENST00000645482.3|NM_003289.4" HGNC:12011 HGNC:55137 TPM2P1 TPM2 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 2020-07-08 2020-07-08 100130620 ENSG00000235975 NG_026892 -HGNC:12012 TPM3 tropomyosin 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 TRK NEM1 Tropomyosins 777 1991-07-18 2023-01-20 7170 ENSG00000143549 OTTHUMG00000035853 uc001fec.3 BC008425 NM_152263 "CCDS41400|CCDS1060|CCDS91061|CCDS41403|CCDS91060|CCDS41402|CCDS41401|CCDS60275|CCDS60274|CCDS72922" P06753 "1829807|25369766" MGI:1890149 RGD:621546 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TPM3|LRG_681|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_681.xml" TPM3 191030 120227 HGNC:12012 "ENST00000651641.1|NM_152263.4" HGNC:12012 +HGNC:12012 TPM3 tropomyosin 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 TRK NEM1 Tropomyosins 777 1991-07-18 2023-01-20 7170 ENSG00000143549 OTTHUMG00000035853 uc001fec.3 BC008425 NM_152263 "CCDS72922|CCDS91061|CCDS1060|CCDS60275|CCDS41402|CCDS41400|CCDS60274|CCDS41403|CCDS41401|CCDS91060" P06753 "1829807|25369766" MGI:1890149 RGD:621546 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TPM3|LRG_681|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_681.xml" TPM3 191030 120227 HGNC:12012 "ENST00000651641.1|NM_152263.4" HGNC:12012 HGNC:16350 TPM3P1 tropomyosin 3 pseudogene 1 pseudogene pseudogene Approved 7q31.2 07q31.2 TPM3L2 "tropomyosin 3-like 2|tropomyosin 3-like 2 pseudogene" 2002-07-22 2010-10-27 2010-10-27 2016-10-05 252956 ENSG00000213050 OTTHUMG00000033986 AF458661 NG_005722 3024106 PGOHUM00000232970 HGNC:16350 HGNC:16556 TPM3P2 tropomyosin 3 pseudogene 2 pseudogene pseudogene Approved 20q11.22 20q11.22 dJ1125A11.2 TPM5P tropomyosin 5, pseudogene 2001-09-17 2010-10-27 2010-10-27 2010-10-27 170555 ENSG00000214200 OTTHUMG00000032281 AL034549 NG_001060 PGOHUM00000247515 HGNC:16556 HGNC:39166 TPM3P3 tropomyosin 3 pseudogene 3 pseudogene pseudogene Approved 8q21 08q21 2010-10-27 2010-10-27 106478937 ENSG00000254195 OTTHUMG00000164614 NG_043632 PGOHUM00000249728 HGNC:39166 @@ -39531,7 +39534,7 @@ HGNC:39169 TPM3P6 tropomyosin 3 pseudogene 6 pseudogene pseudogene Approved 19q1 HGNC:39170 TPM3P7 tropomyosin 3 pseudogene 7 pseudogene pseudogene Approved 2p23.3 02p23.3 2010-10-27 2010-10-27 751599 ENSG00000187536 OTTHUMG00000152172 NG_005721 PGOHUM00000239993 HGNC:39170 HGNC:39171 TPM3P8 tropomyosin 3 pseudogene 8 pseudogene pseudogene Approved 2q37.1 02q37.1 2010-10-27 2010-10-27 646839 ENSG00000183022 OTTHUMG00000153766 NG_005720 PGOHUM00000240545 HGNC:39171 HGNC:44142 TPM3P9 tropomyosin 3 pseudogene 9 pseudogene pseudogene Approved 19q13.42 19q13.42 2012-06-30 2012-07-04 147804 ENSG00000241015 OTTHUMG00000157312 NR_003148 HGNC:44142 -HGNC:12013 TPM4 tropomyosin 4 protein-coding gene gene with protein product Approved 19p13.12-p13.11 19p13.12-p13.11 Tropomyosins 777 1991-07-18 2023-01-20 7171 ENSG00000167460 OTTHUMG00000182134 uc002ndi.3 NM_003290 "CCDS46007|CCDS92548|CCDS92549|CCDS12338" P67936 "8641132|25369766" MGI:2449202 RGD:3899 LRG_1339|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1339.xml TPM4 600317 357453 HGNC:12013 "ENST00000643579.2|NM_003290.3" HGNC:12013 +HGNC:12013 TPM4 tropomyosin 4 protein-coding gene gene with protein product Approved 19p13.12-p13.11 19p13.12-p13.11 Tropomyosins 777 1991-07-18 2023-01-20 7171 ENSG00000167460 OTTHUMG00000182134 uc002ndi.3 NM_003290 "CCDS46007|CCDS12338|CCDS92549|CCDS92548" P67936 "8641132|25369766" MGI:2449202 RGD:3899 LRG_1339|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1339.xml TPM4 600317 357453 HGNC:12013 "ENST00000643579.2|NM_003290.3" HGNC:12013 HGNC:45234 TPM4P1 TPM4 pseudogene 1 pseudogene pseudogene Approved 10q24.31 10q24.31 tropomyosin 4 pseudogene 1 2013-03-11 2022-10-18 2022-10-18 644566 ENSG00000232230 OTTHUMG00000018905 NG_022157 PGOHUM00000238610 HGNC:45234 HGNC:56401 TPM4P2 TPM4 pseudogene 2 pseudogene pseudogene Approved 3p24.1 03p24.1 2022-10-18 2022-10-18 643634 ENSG00000271943 NG_030109 HGNC:56402 TPM4P3 TPM4 pseudogene 3 pseudogene pseudogene Approved 8q13.2 08q13.2 2022-10-18 2022-10-18 100129096 ENSG00000254332 NG_022423 PGOHUM00000303584 @@ -39540,9 +39543,9 @@ HGNC:17490 TPMTP1 thiopurine S-methyltransferase pseudogene 1 pseudogene pseudog HGNC:44565 TPMTP2 thiopurine S-methyltransferase pseudogene 2 pseudogene pseudogene Approved 3p22.1 03p22.1 2012-11-15 2012-11-15 100420393 ENSG00000234562 OTTHUMG00000156196 NG_025569 PGOHUM00000237600 HGNC:44565 HGNC:44566 TPMTP3 thiopurine S-methyltransferase pseudogene 3 pseudogene pseudogene Approved Xp11.22 Xp11.22 2012-11-15 2012-11-15 100129277 ENSG00000232562 OTTHUMG00000021544 NG_022601 PGOHUM00000241300 HGNC:44566 HGNC:44567 TPMTP4 thiopurine S-methyltransferase pseudogene 4 pseudogene pseudogene Approved Xq21.2 Xq21.2 2012-11-15 2012-11-15 100129298 ENSG00000223574 OTTHUMG00000021940 NG_022616 PGOHUM00000241424 HGNC:44567 -HGNC:12015 TPO thyroid peroxidase protein-coding gene gene with protein product Approved 2p25.3 02p25.3 TPX Sushi domain containing 1179 1986-01-01 2023-03-15 7173 ENSG00000115705 OTTHUMG00000090271 uc002qww.4 NM_000547 "CCDS1644|CCDS1643|CCDS1646" P07202 MGI:98813 RGD:3900 606765 120233 objectId:2526 1.11.1.7 HGNC:12015 "ENST00000329066.9|NM_001206744.2" HGNC:12015 +HGNC:12015 TPO thyroid peroxidase protein-coding gene gene with protein product Approved 2p25.3 02p25.3 TPX Sushi domain containing 1179 1986-01-01 2023-03-15 7173 ENSG00000115705 OTTHUMG00000090271 uc002qww.4 NM_000547 "CCDS1643|CCDS1644|CCDS1646" P07202 MGI:98813 RGD:3900 606765 120233 objectId:2526 1.11.1.7 HGNC:12015 "ENST00000329066.9|NM_001206744.2" HGNC:12015 HGNC:2073 TPP1 tripeptidyl peptidase 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "LPIC|TPP-1" "TPP I|lysosomal pepstatin-insensitive carboxypeptidase" "CLN2|SCAR7" "ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)|spinocerebellar ataxia, autosomal recessive 7|tripeptidyl peptidase I" 1990-01-30 2004-12-10 2016-04-05 2023-01-20 1200 ENSG00000166340 OTTHUMG00000133404 uc001mel.2 AF017456 NM_000391 CCDS7770 O14773 "9653647|23418007" MGI:1336194 RGD:621296 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_830|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_830.xml" 607998 120236 S53.003 HGNC:2073 "ENST00000299427.12|NM_000391.4" HGNC:2073 -HGNC:12016 TPP2 tripeptidyl peptidase 2 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 TPPII tripeptidyl peptidase II 1993-02-23 2016-04-05 2023-01-20 7174 ENSG00000134900 OTTHUMG00000017305 uc001vpi.5 M55169 NM_001330588 "CCDS81777|CCDS9502" P29144 1670990 MGI:102724 RGD:621584 LRG_1341|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1341.xml 190470 448714 S08.A56 objectId:2423 3.4.14.10 HGNC:12016 "ENST00000376052.5|NM_001330588.2" HGNC:12016 +HGNC:12016 TPP2 tripeptidyl peptidase 2 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 TPPII tripeptidyl peptidase II 1993-02-23 2016-04-05 2023-01-20 7174 ENSG00000134900 OTTHUMG00000017305 uc001vpi.5 M55169 NM_001330588 "CCDS9502|CCDS81777" P29144 1670990 MGI:102724 RGD:621584 LRG_1341|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1341.xml 190470 448714 S08.A56 objectId:2423 3.4.14.10 HGNC:12016 "ENST00000376052.5|NM_001330588.2" HGNC:12016 HGNC:24164 TPPP tubulin polymerization promoting protein protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "p25alpha|TPPP1|p25|TPPP/p25" brain specific protein p25 alpha Tubulin polymerization promoting proteins 1240 2007-05-02 2023-01-20 11076 ENSG00000171368 OTTHUMG00000131011 uc003jbh.4 AB017016 NM_007030 CCDS3856 O94811 "10083737|12093283|15590652|17105200" MGI:1920198 RGD:1310121 608773 HGNC:24164 "ENST00000360578.7|NM_007030.3" HGNC:19293 TPPP2 tubulin polymerization promoting protein family member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "p25beta|p18|CT152" C14orf8 chromosome 14 open reading frame 8 Tubulin polymerization promoting proteins 1240 2003-10-02 2007-05-02 2016-03-24 2023-01-20 122664 ENSG00000179636 OTTHUMG00000171071 uc001vzh.4 AY072034 NM_173846 CCDS9566 P59282 "15590652|17105200" MGI:2684923 RGD:1566185 616956 HGNC:19293 "ENST00000321760.11|NM_173846.5" HGNC:24162 TPPP3 tubulin polymerization promoting protein family member 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CGI-38|p25gamma|p20" Tubulin polymerization promoting proteins 1240 2007-05-02 2016-03-24 2023-01-20 51673 ENSG00000159713 OTTHUMG00000137516 uc002etb.5 BC000691 NM_015964 CCDS10835 Q9BW30 "15590652|17105200" MGI:1915221 RGD:1305061 616957 HGNC:24162 "ENST00000393957.7|NM_015964.4" @@ -39553,7 +39556,7 @@ HGNC:42391 TPRG1-AS1 TPRG1 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:41062 TPRG1-AS2 TPRG1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q28 03q28 TPRG1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874027 ENSG00000230115 OTTHUMG00000156323 uc031scu.1 NR_046722 TPRG1-AS2 HGNC:41062 HGNC:27007 TPRG1L tumor protein p63 regulated 1 like protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "RP11-46F15.3|FLJ21811|TPRGL|SVAP30|h-Mover" Mossy fiber terminal-associated vertebrate-specific presynaptic protein FAM79A family with sequence similarity 79, member A 2005-07-21 2008-01-16 2016-07-27 2023-01-20 127262 ENSG00000158109 OTTHUMG00000000609 uc001akm.4 BC019034 NM_182752 CCDS47 Q5T0D9 "17869247|18256694|26212709" MGI:1915058 RGD:1590079 611460 HGNC:27007 "ENST00000378344.7|NM_182752.4" HGNC:52353 TPRG1LP1 tumor protein p63 regulated 1 like pseudogene 1 pseudogene pseudogene Approved 19q13.43 19q13.43 2016-07-28 2016-07-28 100130490 ENSG00000269097 OTTHUMG00000183473 NG_021767 PGOHUM00000295488 HGNC:52353 -HGNC:24259 TPRKB TP53RK binding protein protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "CGI-121|CGI121" KEOPS complex 1313 2006-02-02 2023-01-20 51002 ENSG00000144034 OTTHUMG00000129815 uc002sjn.3 AY157986 NM_016058 "CCDS82471|CCDS1927" Q9Y3C4 "10810093|12659830" MGI:1917036 RGD:1309786 608680 HGNC:24259 "ENST00000272424.11|NM_016058.5" HGNC:24259 +HGNC:24259 TPRKB TP53RK binding protein protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "CGI-121|CGI121" KEOPS complex 1313 2006-02-02 2023-01-20 51002 ENSG00000144034 OTTHUMG00000129815 uc002sjn.3 AY157986 NM_016058 "CCDS1927|CCDS82471" Q9Y3C4 "10810093|12659830" MGI:1917036 RGD:1309786 608680 HGNC:24259 "ENST00000272424.11|NM_016058.5" HGNC:24259 HGNC:44943 TPRKBP1 TP53RK binding protein pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 2012-12-19 2014-02-12 101060176 ENSG00000231911 OTTHUMG00000017873 NG_051485 PGOHUM00000238706 HGNC:44943 HGNC:44944 TPRKBP2 TP53RK binding protein pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 2012-12-19 2012-12-19 106480804 ENSG00000260452 OTTHUMG00000176815 NG_045755 PGOHUM00000248771 HGNC:44944 HGNC:26894 TPRN taperin protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FLJ90254 "C9orf75|DFNB79" "chromosome 9 open reading frame 75|deafness, autosomal recessive 79" 2004-01-06 2010-03-24 2010-03-24 2023-03-15 286262 ENSG00000176058 OTTHUMG00000020984 uc004clu.4 AK074735 NM_173691 CCDS56594 Q4KMQ1 "20170898|20170899" MGI:2139535 RGD:1562935 LRG_1360|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1360.xml 613354 227071 HGNC:26894 "ENST00000409012.6|NM_001128228.3" HGNC:26894 @@ -39570,7 +39573,7 @@ HGNC:14136 TPSP2 tryptase pseudogene 2 pseudogene pseudogene Approved 16p13.3 16 HGNC:12020 TPST1 tyrosylprotein sulfotransferase 1 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 TANGO13A transport and golgi organization 13 homolog A (Drosophila) Sulfotransferases, membrane bound 763 1998-10-14 2023-01-20 8460 ENSG00000169902 OTTHUMG00000023871 uc003tuw.4 AF038009 NM_003596 CCDS5533 O60507 9501187 MGI:1298231 RGD:1308473 603125 2.8.2.20 HGNC:12020 "ENST00000304842.6|NM_003596.4" HGNC:12021 TPST2 tyrosylprotein sulfotransferase 2 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 TANGO13B "transport and golgi organization 13 homolog B (Drosophila)|protein-tyrosine sulfotransferase 2" "Sulfotransferases, membrane bound|MicroRNA protein coding host genes" "763|1691" 1998-10-14 2023-01-20 8459 ENSG00000128294 OTTHUMG00000150987 uc062cqc.1 AF049891 NM_003595 CCDS13839 O60704 "9736702|9733778" MGI:1309516 RGD:1305331 603126 471252 2.8.2.20 HGNC:12021 "ENST00000338754.9|NM_003595.5" HGNC:44425 TPST2P1 tyrosylprotein sulfotransferase 2 pseudogene 1 pseudogene pseudogene Approved 15q14 15q14 2012-10-08 2015-08-19 100420710 ENSG00000260582 OTTHUMG00000172662 NG_025297 PGOHUM00000292910 HGNC:44425 -HGNC:12022 TPT1 tumor protein, translationally-controlled 1 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "TCTP|fortilin" Small nucleolar RNA protein coding host genes 1835 1992-09-17 2023-01-20 7178 ENSG00000133112 OTTHUMG00000016845 uc001uzy.3 X16064 NM_001286272 "CCDS66538|CCDS73566|CCDS9397" P13693 "2813067|10343127" MGI:104890 RGD:621623 600763 HGNC:12022 "ENST00000530705.6|NM_003295.4" +HGNC:12022 TPT1 tumor protein, translationally-controlled 1 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "TCTP|fortilin" Small nucleolar RNA protein coding host genes 1835 1992-09-17 2023-01-20 7178 ENSG00000133112 OTTHUMG00000016845 uc001uzy.3 X16064 NM_001286272 "CCDS9397|CCDS66538|CCDS73566" P13693 "2813067|10343127" MGI:104890 RGD:621623 600763 HGNC:12022 "ENST00000530705.6|NM_003295.4" HGNC:43686 TPT1-AS1 TPT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.13 13q14.13 TPT1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-30 2012-08-15 2016-12-16 100190939 ENSG00000170919 OTTHUMG00000016851 uc058wui.1 AF318337 NR_024458 27764782 TPT1-AS1 HGNC:43686 HGNC:16742 TPT1P1 TPT1 pseudogene 1 pseudogene pseudogene Approved 21q22.11 21q22.11 TPT1P "tumor protein, translationally-controlled 1 pseudogene|tumor protein, translationally-controlled 1 pseudogene 1" 2003-10-01 2010-08-18 2021-09-29 2021-09-29 100131268 ENSG00000234107 OTTHUMG00000084902 NG_021999 PGOHUM00000258122 HGNC:16742 HGNC:49294 TPT1P2 TPT1 pseudogene 2 pseudogene pseudogene Approved 2q34 02q34 tumor protein, translationally-controlled 1 pseudogene 2 2013-10-15 2021-09-29 2021-09-29 100128483 ENSG00000228111 OTTHUMG00000154803 PGOHUM00000258137 HGNC:49294 @@ -39587,8 +39590,8 @@ HGNC:49303 TPT1P12 TPT1 pseudogene 12 pseudogene pseudogene Approved 12p13.31 12 HGNC:49304 TPT1P13 TPT1 pseudogene 13 pseudogene pseudogene Approved Xq25 Xq25 tumor protein, translationally-controlled 1 pseudogene 13 2013-10-15 2021-09-29 2021-09-29 643421 ENSG00000213498 OTTHUMG00000022323 NG_023285 PGOHUM00000241525 HGNC:49304 HGNC:49305 TPT1P14 TPT1 pseudogene 14 pseudogene pseudogene Approved Xp22.2 Xp22.2 tumor protein, translationally-controlled 1 pseudogene 14 2013-10-15 2021-09-29 2021-09-29 100128521 ENSG00000235929 OTTHUMG00000021169 NG_022583 PGOHUM00000241195 HGNC:49305 HGNC:55881 TPT1P15 TPT1 pseudogene 15 pseudogene pseudogene Approved Xq13.1 Xq13.1 2021-09-29 2021-09-29 122965329 ENSG00000225471 PGOHUM00000305139 -HGNC:12023 TPTE transmembrane phosphatase with tensin homology protein-coding gene gene with protein product Approved 21p11.2 21p11.2 "PTEN2|CT44|TPTE1" "PTEN-related tyrosine phosphatase|cancer/testis antigen 44" "C2 tensin-type domain containing|PTEN protein phosphatases" "837|902" 1998-03-10 2023-05-24 7179 ENSG00000274391 OTTHUMG00000074127 uc002yip.2 AF007118 NM_199261 "CCDS77617|CCDS74771|CCDS74773|CCDS74772" P56180 "14659893|11810268" MGI:2446460 604336 HGNC:12023 "ENST00000618007.5|NM_199261.4" -HGNC:17299 TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 TPIP "C2 tensin-type domain containing|PTEN protein phosphatases" "837|902" 2004-04-16 2023-03-15 93492 ENSG00000132958 OTTHUMG00000016493 uc001ume.4 AJ421032 NM_199254 "CCDS9285|CCDS45014|CCDS45013" Q6XPS3 "11716755|12717346|15057823" MGI:2446460 RGD:1305825 606791 HGNC:17299 "ENST00000697147.1|NM_001395978.1" +HGNC:12023 TPTE transmembrane phosphatase with tensin homology protein-coding gene gene with protein product Approved 21p11.2 21p11.2 "PTEN2|CT44|TPTE1" "PTEN-related tyrosine phosphatase|cancer/testis antigen 44" "C2 tensin-type domain containing|PTEN protein phosphatases" "837|902" 1998-03-10 2023-05-24 7179 ENSG00000274391 OTTHUMG00000074127 uc002yip.2 AF007118 NM_199261 "CCDS74771|CCDS77617|CCDS74772|CCDS74773" P56180 "14659893|11810268" MGI:2446460 604336 HGNC:12023 "ENST00000618007.5|NM_199261.4" +HGNC:17299 TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 TPIP "C2 tensin-type domain containing|PTEN protein phosphatases" "837|902" 2004-04-16 2023-03-15 93492 ENSG00000132958 OTTHUMG00000016493 uc001ume.4 AJ421032 NM_199254 "CCDS45013|CCDS9285|CCDS45014" Q6XPS3 "11716755|12717346|15057823" MGI:2446460 RGD:1305825 606791 HGNC:17299 "ENST00000697147.1|NM_001395978.1" HGNC:42668 TPTE2-AS1 TPTE2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 LINC00350 long intergenic non-protein coding RNA 350 Antisense RNAs 1987 2011-08-15 2023-02-09 2023-02-09 2023-02-09 100874136 ENSG00000225316 OTTHUMG00000016497 uc058vst.1 NR_172899 LINC00350 HGNC:42668 HGNC:35196 TPTE2P1 TPTE2 pseudogene 1 pseudogene pseudogene Approved 13q12.13 13q12.13 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1 2008-10-21 2022-10-19 2022-10-19 646405 ENSG00000253771 OTTHUMG00000016596 NR_026730 Q5T6R2 PGOHUM00000291897 HGNC:35196 HGNC:38076 TPTE2P2 TPTE2 pseudogene 2 pseudogene pseudogene Approved 13q14.3 13q14.3 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 2 2010-04-09 2022-10-19 2022-10-19 644623 ENSG00000272281 OTTHUMG00000016961 XR_007063808 PGOHUM00000291965 HGNC:38076 @@ -39651,21 +39654,21 @@ HGNC:12098 TRA-TGC7-1 tRNA-Ala (anticodon TGC) 7-1 non-coding RNA RNA, transfer HGNC:34819 TRA-TGC8-1 tRNA-Ala (TGC) 8-1 non-coding RNA RNA, transfer Approved 11p11.12 11p11.12 tRNA-Ala-TGC-8-1 TRNAA25 "transfer RNA alanine 25 (anticodon UGC)|transfer RNA-Ala (TGC) 8-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189256 HG983591 tRNA-Ala-TGC-8-1 HGNC:35106 TRA-TGC9-1 tRNA-Ala (anticodon TGC) 9-1 pseudogene pseudogene Approved 6p22.1 06p22.1 tRNA-Ala-TGC-9-1 TRNAA46P "transfer RNA alanine 46 (anticodon UGC) pseudogene|transfer RNA-Ala (TGC) 9-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189529 HG983592 NG_008587 tRNA-Ala-TGC-9-1 HGNC:35106 HGNC:35041 TRA-TGC10-1 tRNA-Ala (TGC) 10-1 non-coding RNA RNA, transfer Approved 11q12.2 11q12.2 tRNA-Ala-TGC-10-1 TRNAA45P "transfer RNA alanine 45 (anticodon UGC) pseudogene|transfer RNA-Ala (TGC) 10-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189469 HG983593 NG_008527 tRNA-Ala-TGC-10-1 HGNC:35041 -HGNC:16645 TRA2A transformer 2 alpha homolog protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "htra-2-alpha|AWMS1" transformer 2 alpha homolog (Drosophila) RNA binding motif containing 725 2009-02-27 2016-04-11 2023-01-20 29896 ENSG00000164548 OTTHUMG00000128459 uc003swi.5 U53209 NM_013293 "CCDS5383|CCDS75569|CCDS64609" Q13595 "8799144|9546399" MGI:1933972 RGD:1562563 602718 HGNC:16645 "ENST00000297071.9|NM_013293.5" -HGNC:10781 TRA2B transformer 2 beta homolog protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "Htra2-beta|PPP1R156" protein phosphatase 1, regulatory subunit 156 SFRS10 "splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)|transformer 2 beta homolog (Drosophila)" "Protein phosphatase 1 regulatory subunits|RNA binding motif containing" "694|725" 1998-04-27 2009-02-27 2017-04-06 2023-01-20 6434 ENSG00000136527 OTTHUMG00000156641 uc003fpv.4 AF057159 NM_004593 "CCDS58872|CCDS33905" P62995 9790768 MGI:106016 RGD:619886 602719 HGNC:10781 "ENST00000453386.7|NM_004593.3" -HGNC:28805 TRABD TraB domain containing protein-coding gene gene with protein product Approved 22q13.33 22q13.33 PP2447 2006-07-06 2023-01-20 80305 ENSG00000170638 OTTHUMG00000044644 uc003bjs.2 AL449244 NM_025204 "CCDS82724|CCDS14086" Q9H4I3 33618253 MGI:1915226 RGD:1310875 HGNC:28805 "ENST00000380909.9|NM_001320485.2" +HGNC:16645 TRA2A transformer 2 alpha homolog protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "htra-2-alpha|AWMS1" transformer 2 alpha homolog (Drosophila) RNA binding motif containing 725 2009-02-27 2016-04-11 2023-01-20 29896 ENSG00000164548 OTTHUMG00000128459 uc003swi.5 U53209 NM_013293 "CCDS64609|CCDS75569|CCDS5383" Q13595 "8799144|9546399" MGI:1933972 RGD:1562563 602718 HGNC:16645 "ENST00000297071.9|NM_013293.5" +HGNC:10781 TRA2B transformer 2 beta homolog protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "Htra2-beta|PPP1R156" protein phosphatase 1, regulatory subunit 156 SFRS10 "splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)|transformer 2 beta homolog (Drosophila)" "Protein phosphatase 1 regulatory subunits|RNA binding motif containing" "694|725" 1998-04-27 2009-02-27 2017-04-06 2023-01-20 6434 ENSG00000136527 OTTHUMG00000156641 uc003fpv.4 AF057159 NM_004593 "CCDS33905|CCDS58872" P62995 9790768 MGI:106016 RGD:619886 602719 HGNC:10781 "ENST00000453386.7|NM_004593.3" +HGNC:28805 TRABD TraB domain containing protein-coding gene gene with protein product Approved 22q13.33 22q13.33 PP2447 2006-07-06 2023-01-20 80305 ENSG00000170638 OTTHUMG00000044644 uc003bjs.2 AL449244 NM_025204 "CCDS14086|CCDS82724" Q9H4I3 33618253 MGI:1915226 RGD:1310875 HGNC:28805 "ENST00000380909.9|NM_001320485.2" HGNC:56049 TRABD-AS1 TRABD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.33 22q13.33 Antisense RNAs 1987 2021-12-09 2021-12-09 123706513 ENSG00000273253 -HGNC:27013 TRABD2A TraB domain containing 2A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 TIKI1 C2orf89 chromosome 2 open reading frame 89 2009-09-30 2012-07-04 2012-07-04 2023-01-20 129293 ENSG00000186854 OTTHUMG00000152922 uc002sou.6 BC049209 NM_001080824 "CCDS62946|CCDS77428|CCDS46349" Q86V40 "22726442|25354456" 614912 M96.001 HGNC:27013 "ENST00000409520.7|NM_001277053.2" +HGNC:27013 TRABD2A TraB domain containing 2A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 TIKI1 C2orf89 chromosome 2 open reading frame 89 2009-09-30 2012-07-04 2012-07-04 2023-01-20 129293 ENSG00000186854 OTTHUMG00000152922 uc002sou.6 BC049209 NM_001080824 "CCDS46349|CCDS77428|CCDS62946" Q86V40 "22726442|25354456" 614912 M96.001 HGNC:27013 "ENST00000409520.7|NM_001277053.2" HGNC:44200 TRABD2B TraB domain containing 2B protein-coding gene gene with protein product Approved 1p33 01p33 TIKI2 2012-07-04 2023-01-20 388630 ENSG00000269113 OTTHUMG00000007960 uc021ong.2 NM_001194986 CCDS58000 A6NFA1 25354456 MGI:3650152 RGD:1586386 614913 HGNC:44200 "ENST00000606738.3|NM_001194986.2" HGNC:12029 TRAC T cell receptor alpha constant other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28755 ENSG00000277734 OTTHUMG00000028683 uc032auu.2 X02592 NG_001332 P01848 "3875483|8188290" MGI:4439838 186880 401908 TRAC HGNC:12029 HGNC:12029 HGNC:12030 TRADD TNFRSF1A associated via death domain protein-coding gene gene with protein product Approved 16q22.1 16q22.1 Hs.89862 TNFRSF1A-associated via death domain 1999-05-07 2016-04-20 2023-03-15 8717 ENSG00000102871 OTTHUMG00000137519 uc002eri.2 L41690 NM_001323552 CCDS10829 Q15628 "7758105|22333735" MGI:109200 RGD:621313 603500 HGNC:12030 "ENST00000345057.9|NM_003789.4" -HGNC:12031 TRAF1 TNF receptor associated factor 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 EBI6 TNF receptor associated factors 1056 1997-06-12 2015-11-20 2023-01-20 7185 ENSG00000056558 OTTHUMG00000020578 uc010mvl.2 AK090468 NM_005658 "CCDS6825|CCDS55335" Q13077 8069916 MGI:101836 RGD:1596290 601711 HGNC:12031 "ENST00000373887.8|NM_005658.5" +HGNC:12031 TRAF1 TNF receptor associated factor 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 EBI6 TNF receptor associated factors 1056 1997-06-12 2015-11-20 2023-01-20 7185 ENSG00000056558 OTTHUMG00000020578 uc010mvl.2 AK090468 NM_005658 "CCDS55335|CCDS6825" Q13077 8069916 MGI:101836 RGD:1596290 601711 HGNC:12031 "ENST00000373887.8|NM_005658.5" HGNC:12032 TRAF2 TNF receptor associated factor 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "TRAP3|RNF117" "Ring finger proteins|TNF receptor associated factors|MicroRNA protein coding host genes|Zinc fingers TRAF-type" "58|1056|1691|2139" 1999-04-28 2015-11-20 2023-01-20 7186 ENSG00000127191 OTTHUMG00000020952 uc004cjv.4 U12597 NM_021138 CCDS7013 Q12933 7639698 MGI:101835 RGD:1310457 601895 HGNC:12032 "ENST00000247668.7|NM_021138.4" -HGNC:12033 TRAF3 TNF receptor associated factor 3 protein-coding gene gene with protein product Approved 14q32.32 14q32.32 "CAP-1|CD40bp|CRAF1|LAP1|RNF118" "Ring finger proteins|TNF receptor associated factors|Zinc fingers TRAF-type" "58|1056|2139" 1998-05-05 2015-11-20 2023-01-20 7187 ENSG00000131323 OTTHUMG00000171902 uc001ymd.3 U21092 NM_145725 "CCDS9976|CCDS55946|CCDS9975" Q13114 "7530216|7859281" MGI:108041 RGD:1304633 LRG_229|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_229.xml 601896 292425 HGNC:12033 "ENST00000392745.8|NM_145725.3" -HGNC:17861 TRAF3IP1 TRAF3 interacting protein 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "MIP-T3|DKFZP434F124|MIPT3|IFT54|FAP116|CFAP116" microtubule interacting protein that associates with TRAF3 TNF receptor-associated factor 3 interacting protein 1 IFT-B2 complex 1981 2004-03-12 2015-11-20 2023-01-20 26146 ENSG00000204104 OTTHUMG00000152872 uc002vye.4 AF230877 NM_015650 "CCDS46557|CCDS33415" Q8TDR0 "10791955|12935900|28154159" MGI:1921269 RGD:1309252 607380 444522 HGNC:17861 "ENST00000373327.5|NM_015650.4" HGNC:17861 -HGNC:1343 TRAF3IP2 TRAF3 interacting protein 2 protein-coding gene gene with protein product Approved 6q21 06q21 "DKFZP586G0522|ACT1|CIKS" "C6orf4|C6orf5|C6orf6|C6orf2" "chromosome 6 open reading frame 5|chromosome 6 open reading frame 2" 1999-04-15 2005-04-13 2002-06-20 2023-01-20 10758 ENSG00000056972 OTTHUMG00000015379 uc003pvf.5 AF136405 NM_001164281 "CCDS5092|CCDS5093|CCDS55050|CCDS55049" O43734 "10962033|10962024" MGI:2143599 RGD:1593240 LRG_1337|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1337.xml 607043 370364 HGNC:1343 "ENST00000368761.11|NM_147686.4" HGNC:1343 +HGNC:12033 TRAF3 TNF receptor associated factor 3 protein-coding gene gene with protein product Approved 14q32.32 14q32.32 "CAP-1|CD40bp|CRAF1|LAP1|RNF118" "Ring finger proteins|TNF receptor associated factors|Zinc fingers TRAF-type" "58|1056|2139" 1998-05-05 2015-11-20 2023-01-20 7187 ENSG00000131323 OTTHUMG00000171902 uc001ymd.3 U21092 NM_145725 "CCDS9975|CCDS55946|CCDS9976" Q13114 "7530216|7859281" MGI:108041 RGD:1304633 LRG_229|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_229.xml 601896 292425 HGNC:12033 "ENST00000392745.8|NM_145725.3" +HGNC:17861 TRAF3IP1 TRAF3 interacting protein 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "MIP-T3|DKFZP434F124|MIPT3|IFT54|FAP116|CFAP116" microtubule interacting protein that associates with TRAF3 TNF receptor-associated factor 3 interacting protein 1 IFT-B2 complex 1981 2004-03-12 2015-11-20 2023-01-20 26146 ENSG00000204104 OTTHUMG00000152872 uc002vye.4 AF230877 NM_015650 "CCDS33415|CCDS46557" Q8TDR0 "10791955|12935900|28154159" MGI:1921269 RGD:1309252 607380 444522 HGNC:17861 "ENST00000373327.5|NM_015650.4" HGNC:17861 +HGNC:1343 TRAF3IP2 TRAF3 interacting protein 2 protein-coding gene gene with protein product Approved 6q21 06q21 "DKFZP586G0522|ACT1|CIKS" "C6orf4|C6orf5|C6orf6|C6orf2" "chromosome 6 open reading frame 5|chromosome 6 open reading frame 2" 1999-04-15 2005-04-13 2002-06-20 2023-01-20 10758 ENSG00000056972 OTTHUMG00000015379 uc003pvf.5 AF136405 NM_001164281 "CCDS5093|CCDS55049|CCDS5092|CCDS55050" O43734 "10962033|10962024" MGI:2143599 RGD:1593240 LRG_1337|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1337.xml 607043 370364 HGNC:1343 "ENST00000368761.11|NM_147686.4" HGNC:1343 HGNC:40005 TRAF3IP2-AS1 TRAF3IP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 "C6UAS|BetaFAAR" Beta-cell function and apoptosis regulator "TRAF3IP2-AS2|C6orf3|NCRNA00248" "TRAF3IP2 antisense RNA 2 (non-protein coding)|chromosome 6 open reading frame 3|non-protein coding RNA 248|TRAF3IP2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2011-04-28 2012-08-15 2023-02-13 643749 ENSG00000231889 OTTHUMG00000015378 uc063qri.1 NR_034108 "33941656|34183666" MGI:3036287 TRAF3IP2-AS1 HGNC:40005 -HGNC:30766 TRAF3IP3 TRAF3 interacting protein 3 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 T3JAM TRAF3 interacting Jun N terminal kinase (JNK) activating modulator 2005-06-02 2023-01-20 80342 ENSG00000009790 OTTHUMG00000036480 uc001hho.5 NM_001287754 "CCDS1490|CCDS73023|CCDS81422" Q9Y228 14572659 MGI:2441706 RGD:1304848 608255 HGNC:30766 "ENST00000367025.8|NM_025228.4" +HGNC:30766 TRAF3IP3 TRAF3 interacting protein 3 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 T3JAM TRAF3 interacting Jun N terminal kinase (JNK) activating modulator 2005-06-02 2023-01-20 80342 ENSG00000009790 OTTHUMG00000036480 uc001hho.5 NM_001287754 "CCDS81422|CCDS1490|CCDS73023" Q9Y228 14572659 MGI:2441706 RGD:1304848 608255 HGNC:30766 "ENST00000367025.8|NM_025228.4" HGNC:12034 TRAF4 TNF receptor associated factor 4 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "CART1|MLN62|RNF83" "Ring finger proteins|TNF receptor associated factors|Zinc fingers TRAF-type" "58|1056|2139" 1999-05-07 2015-11-20 2023-01-20 9618 ENSG00000076604 OTTHUMG00000132677 uc002hcs.4 X80200 NM_145751 CCDS11243 Q9BUZ4 "7592751|7490069" MGI:1202880 RGD:1306708 602464 HGNC:12034 "ENST00000262395.10|NM_004295.4" HGNC:12035 TRAF5 TNF receptor associated factor 5 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 RNF84 "Ring finger proteins|TNF receptor associated factors|Zinc fingers TRAF-type" "58|1056|2139" 1997-02-03 2015-11-20 2023-01-20 7188 ENSG00000082512 OTTHUMG00000036997 uc001hih.4 AB000509 NM_004619 CCDS1497 O00463 9126477 MGI:107548 RGD:1593883 602356 HGNC:12035 "ENST00000261464.10|NM_001033910.3" HGNC:12036 TRAF6 TNF receptor associated factor 6 protein-coding gene gene with protein product Approved 11p12 11p12 RNF85 RING finger protein 85 TNF receptor-associated factor 6, E3 ubiquitin protein ligase "Ring finger proteins|TNF receptor associated factors|Zinc fingers TRAF-type" "58|1056|2139" 1997-06-12 2015-11-20 2023-01-20 7189 ENSG00000175104 OTTHUMG00000166391 uc001mws.3 NM_145803 CCDS7901 Q9Y4K3 8837778 MGI:108072 RGD:1306853 602355 325281 HGNC:12036 "ENST00000526995.6|NM_004620.4" HGNC:12036 @@ -39734,18 +39737,18 @@ HGNC:12090 TRAJ58 T cell receptor alpha joining 58 (non-functional) other T cell HGNC:12091 TRAJ59 T cell receptor alpha joining 59 (non-functional) other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28696 ENSG00000211832 OTTHUMG00000170908 uc058zfl.1 M94081 NG_001332 8188290 TRAJ59 HGNC:12091 HGNC:12093 TRAJ60 T cell receptor alpha joining 60 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28695 ENSG00000249446 OTTHUMG00000170907 M94081 NG_001332 8188290 TRAJ60 HGNC:12093 HGNC:12094 TRAJ61 T cell receptor alpha joining 61 (non-functional) other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28694 ENSG00000211831 OTTHUMG00000170906 uc058zfk.1 M94081 NG_001332 8188290 TRAJ61 HGNC:12094 -HGNC:29947 TRAK1 trafficking kinesin protein 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "OIP106|KIAA1042|MILT1" "OGT(O Glc NAc transferase) interacting protein 106 KDa|O-linked N-acetylglucosamine transferase interacting protein 106|milton homolog 1 (Drosophila)" trafficking protein, kinesin binding 1 2005-12-13 2016-05-16 2023-01-20 22906 ENSG00000182606 OTTHUMG00000131795 uc003cky.5 NM_014965 "CCDS74922|CCDS2695|CCDS58826|CCDS93249|CCDS43072" Q9UPV9 "10470851|12435728|16380713|20230862" MGI:1914345 RGD:1307844 608112 HGNC:29947 "ENST00000327628.10|NM_001042646.3" HGNC:29947 +HGNC:29947 TRAK1 trafficking kinesin protein 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "OIP106|KIAA1042|MILT1" "OGT(O Glc NAc transferase) interacting protein 106 KDa|O-linked N-acetylglucosamine transferase interacting protein 106|milton homolog 1 (Drosophila)" trafficking protein, kinesin binding 1 2005-12-13 2016-05-16 2023-01-20 22906 ENSG00000182606 OTTHUMG00000131795 uc003cky.5 NM_014965 "CCDS2695|CCDS58826|CCDS74922|CCDS93249|CCDS43072" Q9UPV9 "10470851|12435728|16380713|20230862" MGI:1914345 RGD:1307844 608112 HGNC:29947 "ENST00000327628.10|NM_001042646.3" HGNC:29947 HGNC:13206 TRAK2 trafficking kinesin protein 2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CALS-C|KIAA0549|GRIF-1|OIP98|MILT2" "gamma-aminobutyric acid(A) receptor-interacting factor|milton homolog 2 (Drosophila)|O-linked N-acetylglucosamine transferase interacting protein 98" ALS2CR3 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3|trafficking protein, kinesin binding 2" 2001-02-13 2005-12-13 2016-05-16 2023-01-20 66008 ENSG00000115993 OTTHUMG00000132822 uc002uyb.5 AB038951 NM_015049 CCDS2347 O60296 "11161814|16380713|20230862" MGI:1918077 RGD:620915 607334 HGNC:13206 "ENST00000332624.8|NM_015049.3" -HGNC:20568 TRAM1 translocation associated membrane protein 1 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "TRAM|TRAMP" TLC domain containing 1374 2003-04-03 2023-01-20 23471 ENSG00000067167 OTTHUMG00000164428 uc003xyo.3 X63679 NM_014294 "CCDS6207|CCDS83300" Q15629 1315422 MGI:1919515 RGD:1359100 605190 HGNC:20568 "ENST00000262213.7|NM_014294.6" +HGNC:20568 TRAM1 translocation associated membrane protein 1 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "TRAM|TRAMP" TLC domain containing 1374 2003-04-03 2023-01-20 23471 ENSG00000067167 OTTHUMG00000164428 uc003xyo.3 X63679 NM_014294 "CCDS83300|CCDS6207" Q15629 1315422 MGI:1919515 RGD:1359100 605190 HGNC:20568 "ENST00000262213.7|NM_014294.6" HGNC:28371 TRAM1L1 translocation associated membrane protein 1 like 1 protein-coding gene gene with protein product Approved 4q26 04q26 MGC26568 TLC domain containing 1374 2004-02-06 2017-12-12 2023-01-20 133022 ENSG00000174599 OTTHUMG00000132956 uc003ibv.5 AK074617 NM_152402 CCDS3707 Q8N609 12477932 MGI:2443503 RGD:1306398 617505 HGNC:28371 "ENST00000310754.5|NM_152402.3" HGNC:16855 TRAM2 translocation associated membrane protein 2 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 KIAA0057 TLC domain containing 1374 2003-04-03 2023-01-20 9697 ENSG00000065308 OTTHUMG00000014850 uc003paq.4 D31762 NM_012288 CCDS34477 Q15035 "7584044|10594243" MGI:1924817 RGD:1589151 608485 HGNC:16855 "ENST00000182527.4|NM_012288.4" HGNC:48663 TRAM2-AS1 TRAM2 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 6p12.2 06p12.2 Antisense RNAs 1987 2013-06-04 2013-06-04 2016-12-21 401264 ENSG00000225791 OTTHUMG00000014849 NR_103446 27980086 TRAM2-AS1 HGNC:48663 -HGNC:29011 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "LBA1|KIAA0342" "lupus brain antigen 1|KIAA0342" "Ankyrin repeat domain containing|Tetratricopeptide repeat domain containing" "403|769" 2009-09-25 2023-01-20 9881 ENSG00000168016 OTTHUMG00000155848 uc003cgj.4 AK096678 NM_014831 "CCDS87061|CCDS46789" O15050 9205841 MGI:1341834 RGD:1563130 619316 HGNC:29011 "ENST00000645898.2|NM_001329998.2" +HGNC:29011 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "LBA1|KIAA0342" "lupus brain antigen 1|KIAA0342" "Ankyrin repeat domain containing|Tetratricopeptide repeat domain containing" "403|769" 2009-09-25 2023-01-20 9881 ENSG00000168016 OTTHUMG00000155848 uc003cgj.4 AK096678 NM_014831 "CCDS46789|CCDS87061" O15050 9205841 MGI:1341834 RGD:1563130 619316 HGNC:29011 "ENST00000645898.2|NM_001329998.2" HGNC:16264 TRAP1 TNF receptor associated protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HSP75|HSP90L" TNF receptor-associated protein 1 Heat shock 90kDa proteins 586 2004-07-02 2016-03-29 2023-01-20 10131 ENSG00000126602 OTTHUMG00000129427 uc002cvt.4 AF154108 NM_016292 "CCDS61824|CCDS10508" Q12931 "10652318|7876093" MGI:1915265 RGD:1359733 606219 objectId:2909 HGNC:16264 "ENST00000246957.10|NM_016292.3" HGNC:19894 TRAPPC1 trafficking protein particle complex subunit 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MUM2|BET5" trafficking protein particle complex 1 Trafficking protein particle complex subunits 772 2003-08-29 2021-02-09 2023-01-20 58485 ENSG00000170043 OTTHUMG00000108171 uc021tpl.1 AF129332 NM_021210 CCDS11125 Q9Y5R8 10582700 MGI:1098727 RGD:1311365 610969 HGNC:19894 "ENST00000303731.9|NM_021210.5" -HGNC:23068 TRAPPC2 trafficking protein particle complex subunit 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "TRS20|SEDT|MIP-2A|ZNF547L|hYP38334" SEDL "spondyloepiphyseal dysplasia, late|trafficking protein particle complex 2" Trafficking protein particle complex subunits 772 2005-01-26 2021-02-09 2023-01-20 6399 ENSG00000196459 OTTHUMG00000021157 uc064yat.1 AF157061 NM_014563 "CCDS48083|CCDS48082" P0DI81 14597397 MGI:1913476 RGD:1306925 300202 120241 HGNC:23068 "ENST00000380579.6|NM_001011658.4" HGNC:23068 +HGNC:23068 TRAPPC2 trafficking protein particle complex subunit 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "TRS20|SEDT|MIP-2A|ZNF547L|hYP38334" SEDL "spondyloepiphyseal dysplasia, late|trafficking protein particle complex 2" Trafficking protein particle complex subunits 772 2005-01-26 2021-02-09 2023-01-20 6399 ENSG00000196459 OTTHUMG00000021157 uc064yat.1 AF157061 NM_014563 "CCDS48082|CCDS48083" P0DI81 14597397 MGI:1913476 RGD:1306925 300202 120241 HGNC:23068 "ENST00000380579.6|NM_001011658.4" HGNC:23068 HGNC:10710 TRAPPC2B trafficking protein particle complex subunit 2B protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "SEDLP1|MIP-2A" "SEDLP|TRAPPC2P1" "spondyloepiphyseal dysplasia, late, pseudogene|trafficking protein particle complex 2 pseudogene 1|trafficking protein particle complex 2B" 2000-01-20 2014-10-15 2021-02-09 2023-01-20 10597 ENSG00000256060 OTTHUMG00000183279 uc002qok.2 NM_001355204 CCDS86812 P0DI82 "11134351|24098805" MGI:1913300 HGNC:10710 "ENST00000543226.2|NM_001355204.2" -HGNC:30887 TRAPPC2L trafficking protein particle complex subunit 2L protein-coding gene gene with protein product Approved 16q24.3 16q24.3 HSPC176 "trafficking protein particle complex 2-like|trafficking protein particle complex 2 like" Trafficking protein particle complex subunits 772 2006-06-15 2021-02-09 2023-01-20 51693 ENSG00000167515 OTTHUMG00000137861 uc002fmg.4 BC011369 NM_016209 "CCDS82028|CCDS92207|CCDS82027|CCDS10971|CCDS82029" Q9UL33 "11042152|21525244" MGI:1916295 RGD:1304906 610970 HGNC:30887 "ENST00000696289.1|NM_001318525.2" HGNC:30887 +HGNC:30887 TRAPPC2L trafficking protein particle complex subunit 2L protein-coding gene gene with protein product Approved 16q24.3 16q24.3 HSPC176 "trafficking protein particle complex 2-like|trafficking protein particle complex 2 like" Trafficking protein particle complex subunits 772 2006-06-15 2021-02-09 2023-01-20 51693 ENSG00000167515 OTTHUMG00000137861 uc002fmg.4 BC011369 NM_016209 "CCDS82027|CCDS10971|CCDS92207|CCDS82028|CCDS82029" Q9UL33 "11042152|21525244" MGI:1916295 RGD:1304906 610970 HGNC:30887 "ENST00000696289.1|NM_001318525.2" HGNC:30887 HGNC:54982 TRAPPC2LP1 TRAPPC2L pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-14 2020-05-14 100421462 ENSG00000231053 NG_026716 HGNC:10711 TRAPPC2P2 trafficking protein particle complex 2 pseudogene 2 pseudogene pseudogene Approved 8q13.3 08q13.3 SEDLP2 spondyloepiphyseal dysplasia, late, pseudogene 2 2000-01-20 2009-03-02 2009-03-02 2014-11-19 27196 ENSG00000253124 OTTHUMG00000164467 NG_005354 11031107 PGOHUM00000257191 HGNC:10711 HGNC:10712 TRAPPC2P3 trafficking protein particle complex 2 pseudogene 3 pseudogene pseudogene Approved Yq11.222 Yq11.222 SEDLP3 spondyloepiphyseal dysplasia, late, pseudogene 3 2000-01-20 2009-03-02 2009-03-02 2014-11-19 27195 ENSG00000224964 OTTHUMG00000041665 AC007742 NG_004636.1 11031107 PGOHUM00000262152 HGNC:10712 @@ -39756,23 +39759,23 @@ HGNC:10716 TRAPPC2P7 trafficking protein particle complex 2 pseudogene 7 pseudog HGNC:37731 TRAPPC2P8 trafficking protein particle complex 2 pseudogene 8 pseudogene pseudogene Approved Yq11.222 Yq11.222 TRAPPC2P3B 2010-02-09 2010-02-09 2016-10-05 414751 ENSG00000225895 OTTHUMG00000041951 NG_083987 PGOHUM00000262159 HGNC:37731 HGNC:37733 TRAPPC2P9 trafficking protein particle complex 2 pseudogene 9 pseudogene pseudogene Approved Yq11.223 Yq11.223 TRAPPC2P4B 2010-02-09 2010-02-09 2014-11-19 414753 ENSG00000232845 OTTHUMG00000044986 NG_004755 PGOHUM00000233830 HGNC:37733 HGNC:37732 TRAPPC2P10 trafficking protein particle complex 2 pseudogene 10 pseudogene pseudogene Approved Yq11.23 Yq11.23 TRAPPC2P5B 2010-02-09 2010-02-09 2016-10-05 414752 ENSG00000228465 OTTHUMG00000044992 NG_004755 PGOHUM00000233835 HGNC:37732 -HGNC:19942 TRAPPC3 trafficking protein particle complex subunit 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 BET3 trafficking protein particle complex 3 Trafficking protein particle complex subunits 772 2003-08-29 2021-02-09 2023-01-20 27095 ENSG00000054116 OTTHUMG00000007664 uc001bzx.5 AF041432 NM_014408 "CCDS59194|CCDS72757|CCDS404|CCDS72758" O43617 8619474 MGI:1351486 RGD:1309135 610955 HGNC:19942 "ENST00000373166.8|NM_014408.5" +HGNC:19942 TRAPPC3 trafficking protein particle complex subunit 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 BET3 trafficking protein particle complex 3 Trafficking protein particle complex subunits 772 2003-08-29 2021-02-09 2023-01-20 27095 ENSG00000054116 OTTHUMG00000007664 uc001bzx.5 AF041432 NM_014408 "CCDS59194|CCDS404|CCDS72757|CCDS72758" O43617 8619474 MGI:1351486 RGD:1309135 610955 HGNC:19942 "ENST00000373166.8|NM_014408.5" HGNC:21090 TRAPPC3L trafficking protein particle complex subunit 3L protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "bA259P20.2|FLJ11180" BET3L "BET3 like (S. cerevisiae)|trafficking protein particle complex 3-like|trafficking protein particle complex 3 like|trafficking protein particle complex subunit 3 like" Trafficking protein particle complex subunits 772 2003-11-26 2013-05-01 2021-02-09 2023-01-20 100128327 ENSG00000173626 OTTHUMG00000015440 AK002042 NM_001139444 CCDS47468 Q5T215 21525244 MGI:3642034 RGD:2318506 614137 HGNC:21090 "ENST00000368602.4|NM_001139444.3" -HGNC:19943 TRAPPC4 trafficking protein particle complex subunit 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TRS23|SBDN|PTD009" trafficking protein particle complex 4 "Trafficking protein particle complex subunits|MicroRNA protein coding host genes" "772|1691" 2003-08-29 2021-02-09 2023-01-20 51399 ENSG00000196655 OTTHUMG00000166351 uc010ryo.4 AF078862 NM_016146 "CCDS8407|CCDS81635|CCDS81633|CCDS81634|CCDS81632" Q9Y296 10810093 MGI:1926211 RGD:1302991 610971 HGNC:19943 "ENST00000533632.6|NM_016146.6" HGNC:19943 +HGNC:19943 TRAPPC4 trafficking protein particle complex subunit 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TRS23|SBDN|PTD009" trafficking protein particle complex 4 "Trafficking protein particle complex subunits|MicroRNA protein coding host genes" "772|1691" 2003-08-29 2021-02-09 2023-01-20 51399 ENSG00000196655 OTTHUMG00000166351 uc010ryo.4 AF078862 NM_016146 "CCDS81635|CCDS8407|CCDS81632|CCDS81634|CCDS81633" Q9Y296 10810093 MGI:1926211 RGD:1302991 610971 HGNC:19943 "ENST00000533632.6|NM_016146.6" HGNC:19943 HGNC:23067 TRAPPC5 trafficking protein particle complex subunit 5 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC52424|TRS31" trafficking protein particle complex 5 Trafficking protein particle complex subunits 772 2003-09-01 2021-02-09 2023-01-20 126003 ENSG00000181029 OTTHUMG00000182589 uc002mhi.2 BC042161 NM_174894 CCDS42490 Q8IUR0 MGI:1913932 RGD:1563971 HGNC:23067 "ENST00000596148.3|NM_001042462.2" -HGNC:23069 TRAPPC6A trafficking protein particle complex subunit 6A protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "TRS33|MGC2650|HSPC289" trafficking protein particle complex 6A Trafficking protein particle complex subunits 772 2003-09-03 2021-02-09 2023-01-20 79090 ENSG00000007255 OTTHUMG00000181775 uc002paw.5 AF161407 NM_024108 "CCDS12655|CCDS59397|CCDS59396|CCDS59395" O75865 MGI:1914341 RGD:1591735 610396 HGNC:23069 "ENST00000585934.1|NM_001270891.2" HGNC:23069 +HGNC:23069 TRAPPC6A trafficking protein particle complex subunit 6A protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "TRS33|MGC2650|HSPC289" trafficking protein particle complex 6A Trafficking protein particle complex subunits 772 2003-09-03 2021-02-09 2023-01-20 79090 ENSG00000007255 OTTHUMG00000181775 uc002paw.5 AF161407 NM_024108 "CCDS59395|CCDS12655|CCDS59396|CCDS59397" O75865 MGI:1914341 RGD:1591735 610396 HGNC:23069 "ENST00000585934.1|NM_001270891.2" HGNC:23069 HGNC:23066 TRAPPC6B trafficking protein particle complex subunit 6B protein-coding gene gene with protein product Approved 14q21.1 14q21.1 trafficking protein particle complex 6B Trafficking protein particle complex subunits 772 2003-09-01 2021-02-09 2023-01-20 122553 ENSG00000182400 OTTHUMG00000140259 uc001wut.2 AK025437 NM_177452 "CCDS9670|CCDS41947" Q86SZ2 MGI:1925482 RGD:1309325 610397 HGNC:23066 "ENST00000330149.10|NM_001079537.2" HGNC:23066 HGNC:29169 TRAPPC8 trafficking protein particle complex subunit 8 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "HsT2706|TRS85|GSG1" general sporulation gene 1 homolog (S. cerevisiae) KIAA1012 "KIAA1012|trafficking protein particle complex 8" Trafficking protein particle complex subunits 772 2004-01-04 2010-06-29 2021-02-09 2023-01-20 22878 ENSG00000153339 OTTHUMG00000132267 uc002kxc.5 AB023229 NM_014939 CCDS11901 Q9Y2L5 "10231032|11230166" MGI:2443008 RGD:1309102 614136 HGNC:29169 "ENST00000283351.10|NM_014939.5" HGNC:30832 TRAPPC9 trafficking protein particle complex subunit 9 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "IKBKBBP|NIBP|KIAA1882|T1|TRS120|MRT13" "TRAPP 120 kDa subunit|tularik gene 1" trafficking protein particle complex 9 Trafficking protein particle complex subunits 772 2008-05-07 2021-02-09 2023-01-20 83696 ENSG00000167632 OTTHUMG00000164187 uc003yvj.3 BC006206 NM_031466 CCDS55278 Q96Q05 11572484 MGI:1923760 RGD:1309461 LRG_1041|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1041.xml 611966 218049 HGNC:30832 "ENST00000438773.4|NM_001160372.4" HGNC:30832 HGNC:11868 TRAPPC10 trafficking protein particle complex subunit 10 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "EHOC-1|TRS130" "trafficking protein particle complex subunit 130|TRAPP 130 kDa subunit" TMEM1 "transmembrane protein 1|trafficking protein particle complex 10" Trafficking protein particle complex subunits 772 1996-06-21 2008-05-07 2021-02-09 2023-03-15 7109 ENSG00000160218 OTTHUMG00000086894 uc002zea.4 U19252 NM_003274 CCDS13704 P48553 7633421 MGI:1336209 RGD:1311263 602103 HGNC:11868 "ENST00000291574.9|NM_003274.5" -HGNC:25751 TRAPPC11 trafficking protein particle complex subunit 11 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "FLJ12716|gry|foigr" "gryzun homolog (Drosophila)|foie gras homolog (zebrafish)" C4orf41 "chromosome 4 open reading frame 41|trafficking protein particle complex 11" Trafficking protein particle complex subunits 772 2007-12-13 2011-12-12 2021-02-09 2023-01-20 60684 ENSG00000168538 OTTHUMG00000160673 uc003ivx.4 NM_021942 "CCDS47166|CCDS34112" Q7Z392 "19942856|21525244" MGI:2444585 RGD:1309765 614138 376401 HGNC:25751 "ENST00000334690.11|NM_021942.6" HGNC:25751 +HGNC:25751 TRAPPC11 trafficking protein particle complex subunit 11 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "FLJ12716|gry|foigr" "gryzun homolog (Drosophila)|foie gras homolog (zebrafish)" C4orf41 "chromosome 4 open reading frame 41|trafficking protein particle complex 11" Trafficking protein particle complex subunits 772 2007-12-13 2011-12-12 2021-02-09 2023-01-20 60684 ENSG00000168538 OTTHUMG00000160673 uc003ivx.4 NM_021942 "CCDS34112|CCDS47166" Q7Z392 "19942856|21525244" MGI:2444585 RGD:1309765 614138 376401 HGNC:25751 "ENST00000334690.11|NM_021942.6" HGNC:25751 HGNC:24284 TRAPPC12 trafficking protein particle complex subunit 12 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "CGI-87|TTC-15" TTC15 "tetratricopeptide repeat domain 15|trafficking protein particle complex 12" "Tetratricopeptide repeat domain containing|Trafficking protein particle complex subunits" "769|772" 2003-12-22 2011-12-12 2021-02-09 2023-01-20 51112 ENSG00000171853 OTTHUMG00000090328 uc002qxn.2 BC017475 NM_016030 CCDS1652 Q8WVT3 "10810093|21525244|20562859" MGI:2445089 RGD:1566054 614139 HGNC:24284 "ENST00000324266.10|NM_016030.6" HGNC:24284 HGNC:41046 TRAPPC12-AS1 TRAPPC12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 TRAPPC12 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-12 2012-08-15 2014-11-19 100861515 ENSG00000225234 OTTHUMG00000151434 uc061gep.1 BG683264 NR_046720 TRAPPC12-AS1 -HGNC:25828 TRAPPC13 trafficking protein particle complex subunit 13 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "FLJ13611|MGC48585" Trs65-related C5orf44 "chromosome 5 open reading frame 44|trafficking protein particle complex 13" Trafficking protein particle complex subunits 772 2008-06-19 2013-01-24 2021-02-09 2023-01-20 80006 ENSG00000113597 OTTHUMG00000163649 uc003jua.5 NM_024941 "CCDS47221|CCDS47222|CCDS58950|CCDS47223" A5PLN9 23394947 MGI:1914225 RGD:1306583 HGNC:25828 "ENST00000399438.8|NM_024941.4" +HGNC:25828 TRAPPC13 trafficking protein particle complex subunit 13 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "FLJ13611|MGC48585" Trs65-related C5orf44 "chromosome 5 open reading frame 44|trafficking protein particle complex 13" Trafficking protein particle complex subunits 772 2008-06-19 2013-01-24 2021-02-09 2023-01-20 80006 ENSG00000113597 OTTHUMG00000163649 uc003jua.5 NM_024941 "CCDS58950|CCDS47223|CCDS47221|CCDS47222" A5PLN9 23394947 MGI:1914225 RGD:1306583 HGNC:25828 "ENST00000399438.8|NM_024941.4" HGNC:50347 TRAPPC13P1 trafficking protein particle complex 13 pseudogene 1 pseudogene pseudogene Approved Xq13.3 Xq13.3 2014-04-15 2014-04-15 646193 ENSG00000235447 OTTHUMG00000021880 NG_022906 PGOHUM00000241406 HGNC:50347 HGNC:25604 TRAPPC14 trafficking protein particle complex subunit 14 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ10925 "C7orf43|MAP11" "chromosome 7 open reading frame 43|microtubule associated protein 11|trafficking protein particle complex 14" "Trafficking protein particle complex subunits|MicroRNA protein coding host genes" "772|1691" 2006-08-08 2020-09-16 2021-02-09 2023-01-20 55262 ENSG00000146826 OTTHUMG00000154862 uc003utr.4 NM_018275 "CCDS5687|CCDS78261" Q8WVR3 "30715179|31467083" MGI:2385896 RGD:1305455 618350 HGNC:25604 "ENST00000316937.8|NM_018275.5" HGNC:25604 -HGNC:29592 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "LOST1|IFITMD3|BEC-1|DSPB1" "located at seventeen p thirteen point three 1|interferon induced transmembrane protein domain containing 3|dispanin subfamily B member 1|brain endothelial cell derived gene-1" TUSC5 tumor suppressor candidate 5 interferon induced transmembrane protein domain containing 1600 2004-05-24 2018-03-22 2018-03-22 2023-01-20 286753 ENSG00000184811 OTTHUMG00000132196 uc002fsi.1 AB090231 NM_172367 CCDS42225 Q8IXB3 "12660825|26629404|29787242" MGI:3029307 RGD:1307639 612211 HGNC:29592 "ENST00000333813.4|NM_172367.3" -HGNC:30698 TRAT1 T cell receptor associated transmembrane adaptor 1 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "HSPC062|TRIM" TCRIM TCRIM 2004-11-03 2005-05-04 2017-12-06 2023-01-20 50852 ENSG00000163519 OTTHUMG00000159198 uc003dxi.2 AJ240084 NM_016388 "CCDS82814|CCDS33813" Q6PIZ9 "10663578|9687533" MGI:1924897 RGD:1563011 604962 HGNC:30698 "ENST00000295756.11|NM_016388.4" +HGNC:29592 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "LOST1|IFITMD3|BEC-1|DSPB1" "located at seventeen p thirteen point three 1|interferon induced transmembrane protein domain containing 3|dispanin subfamily B member 1|brain endothelial cell derived gene-1" TUSC5 tumor suppressor candidate 5 Dispanins 1600 2004-05-24 2018-03-22 2018-03-22 2023-01-20 286753 ENSG00000184811 OTTHUMG00000132196 uc002fsi.1 AB090231 NM_172367 CCDS42225 Q8IXB3 "12660825|26629404|29787242" MGI:3029307 RGD:1307639 612211 HGNC:29592 "ENST00000333813.4|NM_172367.3" +HGNC:30698 TRAT1 T cell receptor associated transmembrane adaptor 1 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "HSPC062|TRIM" TCRIM TCRIM 2004-11-03 2005-05-04 2017-12-06 2023-01-20 50852 ENSG00000163519 OTTHUMG00000159198 uc003dxi.2 AJ240084 NM_016388 "CCDS33813|CCDS82814" Q6PIZ9 "10663578|9687533" MGI:1924897 RGD:1563011 604962 HGNC:30698 "ENST00000295756.11|NM_016388.4" HGNC:12101 TRAV1-1 T cell receptor alpha variable 1-1 other T cell receptor gene Approved 14q11.2 14q11.2 "TRAV11|TCRAV1S1|TCRAV7S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28693 ENSG00000255569 OTTHUMG00000168977 uc058zdj.1 AE000658 NG_001332 A0A0B4J248 8188290 MGI:3651476 TRAV1-1 HGNC:12101 HGNC:12102 TRAV1-2 T cell receptor alpha variable 1-2 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28692 ENSG00000256553 OTTHUMG00000168978 uc058zdk.1 AE000658 NG_001332 A0A0B4J238 8188290 MGI:3651476 TRAV1-2 HGNC:12102 HGNC:12116 TRAV2 T cell receptor alpha variable 2 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28691 ENSG00000211776 OTTHUMG00000168980 uc021roz.2 AE000658 NG_001332 A0A0B4J234 8188290 RGD:6495277 TRAV2 HGNC:12116 @@ -39986,7 +39989,7 @@ HGNC:12258 TRDJ2 T cell receptor delta joining 2 other T cell receptor gene Appr HGNC:12259 TRDJ3 T cell receptor delta joining 3 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28520 ENSG00000211828 OTTHUMG00000170904 uc058zfh.1 M21508 NG_001332 3186718 MGI:4887422 TRDJ3 HGNC:12259 HGNC:12260 TRDJ4 T cell receptor delta joining 4 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28519 ENSG00000211826 OTTHUMG00000170902 uc058zff.1 NG_001332 8207230 TRDJ4 HGNC:12260 HGNC:2977 TRDMT1 tRNA aspartic acid methyltransferase 1 protein-coding gene gene with protein product Approved 10p13 10p13 RNMT1 tRNA (cytosine(38)-C(5))-methyltransferase DNMT2 DNA (cytosine-5-)-methyltransferase 2 7BS C5-cytosine DNA/RNA methyltransferases 2060 1998-05-07 2006-10-23 2006-10-23 2023-03-15 1787 ENSG00000107614 OTTHUMG00000017745 uc001iop.4 AJ223333 NM_004412 CCDS7114 O14717 "9425235|9763678|16424344" MGI:1274787 RGD:1306292 602478 2.1.1.204 HGNC:2977 "ENST00000377799.8|NM_004412.7" -HGNC:12261 TRDN triadin protein-coding gene gene with protein product Approved 6q22.31 06q22.31 TRISK triadin in skeletal muscle 1999-12-17 2023-01-20 10345 ENSG00000186439 OTTHUMG00000015497 uc003pzj.2 U18985 NM_001251987 "CCDS75511|CCDS93997|CCDS55053|CCDS59035|CCDS59034" Q13061 7588753 MGI:1924007 RGD:619856 603283 304242 HGNC:12261 "ENST00000334268.9|NM_006073.4" HGNC:12261 +HGNC:12261 TRDN triadin protein-coding gene gene with protein product Approved 6q22.31 06q22.31 TRISK triadin in skeletal muscle 1999-12-17 2023-01-20 10345 ENSG00000186439 OTTHUMG00000015497 uc003pzj.2 U18985 NM_001251987 "CCDS93997|CCDS55053|CCDS75511|CCDS59035|CCDS59034" Q13061 7588753 MGI:1924007 RGD:619856 603283 304242 HGNC:12261 "ENST00000334268.9|NM_006073.4" HGNC:12261 HGNC:40592 TRDN-AS1 TRDN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22.31 06q22.31 HRAT13 heart tissue-associated transcript 13 Antisense RNAs 1987 2017-08-30 2017-08-30 101927990 ENSG00000235535 OTTHUMG00000015496 NR_110844 28839111 HGNC:40592 HGNC:12262 TRDV1 T cell receptor delta variable 1 other T cell receptor gene Approved 14q11.2 14q11.2 hDV101S1 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28518 ENSG00000211804 OTTHUMG00000170651 uc058zee.1 M22198 NG_001332 A0A1B0GX56 3186718 "MGI:3649172|MGI:3651288|MGI:3702147|MGI:3800299|MGI:4439369|MGI:4439864" TRDV1 HGNC:12262 HGNC:12263 TRDV2 T cell receptor delta variable 2 other T cell receptor gene Approved 14q11.2 14q11.2 "hDV102S1|MGC117421" T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28517 ENSG00000211821 OTTHUMG00000170843 uc001wdu.3 X15207 NG_001332 A0JD36 2526321 MGI:4887419 TRDV2 HGNC:12263 @@ -40035,16 +40038,16 @@ HGNC:34613 TRE-TTC13-1 tRNA-Glu (anticodon TTC) 13-1 pseudogene pseudogene Appro HGNC:35058 TRE-TTC14-1 tRNA-Glu (anticodon TTC) 14-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Glu-TTC-14-1 TRNAE34P "transfer RNA glutamic acid 34 (anticodon UUC) pseudogene|transfer RNA-Glu (TTC) 14-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189485 HG983793 NG_008543 tRNA-Glu-TTC-14-1 HGNC:35058 HGNC:35057 TRE-TTC15-1 tRNA-Glu (TTC) 15-1 non-coding RNA RNA, transfer Approved 6q26 06q26 tRNA-Glu-TTC-15-1 TRNAE33P "transfer RNA glutamic acid 33 (anticodon UUC) pseudogene|transfer RNA-Glu (TTC) 15-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189484 HG983794 NG_008542 tRNA-Glu-TTC-15-1 HGNC:35057 HGNC:34773 TRE-TTC16-1 tRNA-Glu (TTC) 16-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Glu-TTC-16-1 TRNAE16 "transfer RNA glutamic acid 16 (anticodon UUC)|transfer RNA-Glu (TTC) 16-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189210 HG983795 tRNA-Glu-TTC-16-1 -HGNC:12266 TREH trehalase protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TRE|TREA|MGC129621" "alpha,alpha-trehalase|alpha,alpha-trehalose glucohydrolase" trehalase (brush-border membrane glycoprotein) Glycoside hydrolases 1650 1999-09-07 2015-11-09 2023-01-20 11181 ENSG00000118094 OTTHUMG00000166409 uc031ygn.2 AB000824 NM_007180 "CCDS73402|CCDS73401" O43280 9427547 MGI:1926230 RGD:61831 275360 158077 3.2.1.28 HGNC:12266 "ENST00000264029.9|NM_007180.3" HGNC:12266 +HGNC:12266 TREH trehalase protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TRE|TREA|MGC129621" "alpha,alpha-trehalase|alpha,alpha-trehalose glucohydrolase" trehalase (brush-border membrane glycoprotein) Glycoside hydrolases 1650 1999-09-07 2015-11-09 2023-01-20 11181 ENSG00000118094 OTTHUMG00000166409 uc031ygn.2 AB000824 NM_007180 "CCDS73401|CCDS73402" O43280 9427547 MGI:1926230 RGD:61831 275360 158077 3.2.1.28 HGNC:12266 "ENST00000264029.9|NM_007180.3" HGNC:12266 HGNC:51907 TREHP1 trehalase pseudogene 1 pseudogene pseudogene Approved 11q23.3 11q23.3 2015-09-21 2015-09-21 768086 ENSG00000255239 OTTHUMG00000166410 NG_005770 PGOHUM00000290720 HGNC:51907 -HGNC:17760 TREM1 triggering receptor expressed on myeloid cells 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TREM-1|CD354" "CD molecules|V-set domain containing" "471|590" 2002-08-09 2023-01-20 54210 ENSG00000124731 OTTHUMG00000014674 uc003oqf.3 AF196329 NM_018643 "CCDS56427|CCDS4854|CCDS59499" Q9NP99 "11922939|10799849" MGI:1930005 RGD:1309467 605085 HGNC:17760 "ENST00000244709.9|NM_018643.5" +HGNC:17760 TREM1 triggering receptor expressed on myeloid cells 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TREM-1|CD354" "CD molecules|V-set domain containing" "471|590" 2002-08-09 2023-01-20 54210 ENSG00000124731 OTTHUMG00000014674 uc003oqf.3 AF196329 NM_018643 "CCDS4854|CCDS56427|CCDS59499" Q9NP99 "11922939|10799849" MGI:1930005 RGD:1309467 605085 HGNC:17760 "ENST00000244709.9|NM_018643.5" HGNC:17761 TREM2 triggering receptor expressed on myeloid cells 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TREM-2|Trem2a|Trem2b|Trem2c" triggering receptor expressed on myeloid cells 2a V-set domain containing 590 2002-08-09 2002-08-15 2023-01-20 54209 ENSG00000095970 OTTHUMG00000014671 uc003opy.4 AF213457 NM_018965 "CCDS4852|CCDS64422" Q9NZC2 "10799849|12080485" MGI:1913150 RGD:1309841 LRG_631|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_631.xml 605086 120249 HGNC:17761 "ENST00000373113.8|NM_018965.4" HGNC:17761 -HGNC:20434 TREML1 triggering receptor expressed on myeloid cells like 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TLT1|dJ238O23.3" TREM-like transcript 1 triggering receptor expressed on myeloid cells-like 1 V-set domain containing 590 2003-07-08 2015-11-23 2023-01-20 340205 ENSG00000161911 OTTHUMG00000016231 uc011duc.4 AF534822 NM_178174 "CCDS4851|CCDS64420|CCDS64421" Q86YW5 "12393607|12645956" MGI:1918576 RGD:1565175 609714 HGNC:20434 "ENST00000426005.7|NM_178174.4" +HGNC:20434 TREML1 triggering receptor expressed on myeloid cells like 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TLT1|dJ238O23.3" TREM-like transcript 1 triggering receptor expressed on myeloid cells-like 1 V-set domain containing 590 2003-07-08 2015-11-23 2023-01-20 340205 ENSG00000161911 OTTHUMG00000016231 uc011duc.4 AF534822 NM_178174 "CCDS64421|CCDS64420|CCDS4851" Q86YW5 "12393607|12645956" MGI:1918576 RGD:1565175 609714 HGNC:20434 "ENST00000426005.7|NM_178174.4" HGNC:21092 TREML2 triggering receptor expressed on myeloid cells like 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "FLJ13693|TLT2|dJ238O23.1" TREM-like transcript 2 C6orf76 "chromosome 6 open reading frame 76|triggering receptor expressed on myeloid cells-like 2" V-set domain containing 590 2003-05-19 2004-04-16 2015-11-23 2023-01-20 79865 ENSG00000112195 OTTHUMG00000016349 uc010jxm.3 AK023755 NM_024807 CCDS4853 Q5T2D2 12645956 MGI:2147038 RGD:1587039 609715 HGNC:21092 "ENST00000483722.2|NM_024807.4" HGNC:30806 TREML3P triggering receptor expressed on myeloid cells like 3, pseudogene pseudogene pseudogene Approved 6p21.1 06p21.1 TLT3 TREM like transcript 3 TREML3 "triggering receptor expressed on myeloid cells-like 3|triggering receptor expressed on myeloid cells-like 3, pseudogene" 2004-04-14 2012-04-20 2015-11-23 2015-11-23 340206 ENSG00000184106 OTTHUMG00000177313 AF534825 NR_027256 12645956 609716 PGOHUM00000243171 HGNC:30806 HGNC:30807 TREML4 triggering receptor expressed on myeloid cells like 4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 TLT4 TREM like transcript 4 triggering receptor expressed on myeloid cells-like 4 V-set domain containing 590 2004-07-26 2015-11-23 2023-01-20 285852 ENSG00000188056 OTTHUMG00000016408 uc003oqc.3 AF534826 NM_198153 CCDS34446 Q6UXN2 12645956 MGI:1923239 RGD:1587021 614664 HGNC:30807 "ENST00000341495.7|NM_198153.3" HGNC:30808 TREML5P triggering receptor expressed on myeloid cells like 5, pseudogene pseudogene pseudogene Approved 6p21.1 06p21.1 TLT5 TREM like transcript 5 "TREML2P|TREML2P1" "triggering receptor expressed on myeloid cells-like 2 pseudogene|triggering receptor expressed on myeloid cells-like 2 pseudogene 1|triggering receptor expressed on myeloid cells-like 5, pseudogene" 2004-04-14 2012-04-20 2015-11-23 2015-11-23 221438 ENSG00000225690 OTTHUMG00000154701 AF534827 NR_002794 12645956 PGOHUM00000243619 HGNC:30808 -HGNC:18273 TRERF1 transcriptional regulating factor 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TReP-132|HSA277276|RAPA|dJ139D8.5" BCAR2 breast cancer anti-estrogen resistance 2 Myb/SANT domain containing 532 2003-11-26 2023-03-15 55809 ENSG00000124496 OTTHUMG00000014698 uc003osd.3 AF297872 NM_033502 "CCDS75455|CCDS4867|CCDS93925|CCDS93924" Q96PN7 11349124 MGI:2442086 RGD:1307167 610322 HGNC:18273 "ENST00000695948.1|NM_001395490.1" HGNC:18273 +HGNC:18273 TRERF1 transcriptional regulating factor 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TReP-132|HSA277276|RAPA|dJ139D8.5" BCAR2 breast cancer anti-estrogen resistance 2 Myb/SANT domain containing 532 2003-11-26 2023-03-15 55809 ENSG00000124496 OTTHUMG00000014698 uc003osd.3 AF297872 NM_033502 "CCDS93924|CCDS75455|CCDS93925|CCDS4867" Q96PN7 11349124 MGI:2442086 RGD:1307167 610322 HGNC:18273 "ENST00000695948.1|NM_001395490.1" HGNC:18273 HGNC:44307 TRERNA1 translation regulatory long non-coding RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 "ncRNA-a7|treRNA" translational regulatory long non-coding RNA LINC00651 long intergenic non-protein coding RNA 651 Long non-coding RNAs with non-systematic symbols 1992 2012-08-09 2013-08-28 2013-08-28 2014-10-22 100887755 ENSG00000231265 OTTHUMG00000032711 "AI968488|BX118093" NR_051976 "20887892|23974796" LOC100887755 TRERNA1 HGNC:44307 HGNC:12269 TREX1 three prime repair exonuclease 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 DRN3 AGS1 Aicardi-Goutieres syndrome 1 "Exonucleases|SET complex" "544|1659" 2000-05-17 2023-03-15 11277 ENSG00000213689 OTTHUMG00000156205 uc062jhw.1 AF151105 NM_033629 "CCDS2769|CCDS59451" Q9NSU2 "10391904|10393201|16845398" MGI:1328317 RGD:1311998 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TREX1|LRG_282|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_282.xml" 606609 120255 HGNC:12269 "ENST00000625293.3|NM_033629.6" HGNC:12269 HGNC:12270 TREX2 three prime repair exonuclease 2 protein-coding gene gene with protein product Approved Xq28 Xq28 Exonucleases 544 2000-05-17 2023-01-20 11219 ENSG00000183479 OTTHUMG00000159319 uc065bsy.1 AF151107 NM_080701 CCDS35437 Q9BQ50 10391904 MGI:1346343 RGD:1562245 300370 HGNC:12270 "ENST00000370231.3|NM_080701.4" @@ -40166,62 +40169,62 @@ HGNC:34693 TRI-TAT2-3 tRNA-Ile (anticodon TAT) 2-3 non-coding RNA RNA, transfer HGNC:34916 TRI-TAT3-1 tRNA-Ile (anticodon TAT) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ile-TAT-3-1 TRNAI21 "transfer RNA isoleucine 21 (anticodon UAU)|transfer RNA-Ile (TAT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189348 HG983867 tRNA-Ile-TAT-3-1 HGNC:34916 HGNC:26937 TRIAP1 TP53 regulated inhibitor of apoptosis 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "P53CSV|WF-1|HSPC132|p53CSV|MDM35" "p53-inducible cell-survival factor|mitochondrial distribution and morphology 35 homolog (S. cerevisiae)" 2006-02-24 2023-01-20 51499 ENSG00000170855 OTTHUMG00000047787 uc001tyg.3 NM_016399 CCDS9198 O43715 "11042152|15735003" MGI:1916326 RGD:1586233 614943 HGNC:26937 "ENST00000546954.2|NM_016399.3" HGNC:31659 TRIAP1P1 TP53 regulated inhibitor of apoptosis 1 pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 bA748L13.4 C10orf135 chromosome 10 open reading frame 135 2004-05-27 2012-04-17 2012-04-17 2020-04-20 100289619 ENSG00000237956 OTTHUMG00000017859 NG_027980 PGOHUM00000238381 HGNC:31659 -HGNC:16891 TRIB1 tribbles pseudokinase 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "C8FW|GIG2|TRB1" tribbles homolog 1 (Drosophila) 2004-05-10 2013-10-03 2023-01-20 10221 ENSG00000173334 OTTHUMG00000165007 uc003yrx.4 AF205437 NM_025195 "CCDS64971|CCDS6357" Q96RU8 "9342215|16715410" MGI:2443397 RGD:621596 609461 objectId:2249 HGNC:16891 "ENST00000311922.4|NM_025195.4" +HGNC:16891 TRIB1 tribbles pseudokinase 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "C8FW|GIG2|TRB1" tribbles homolog 1 (Drosophila) 2004-05-10 2013-10-03 2023-01-20 10221 ENSG00000173334 OTTHUMG00000165007 uc003yrx.4 AF205437 NM_025195 "CCDS6357|CCDS64971" Q96RU8 "9342215|16715410" MGI:2443397 RGD:621596 609461 objectId:2249 HGNC:16891 "ENST00000311922.4|NM_025195.4" HGNC:56762 TRIB1AL TRIB1 associated lncRNA non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 TRIBAL TRIB1-associated locus Long non-coding RNAs with non-systematic symbols 1992 2023-05-11 2023-05-11 130406855 ENSG00000253111 24895164 HGNC:30809 TRIB2 tribbles pseudokinase 2 protein-coding gene gene with protein product Approved 2p24.3 02p24.3 "TRB2|GS3955" tribbles homolog 2 (Drosophila) MicroRNA protein coding host genes 1691 2004-04-30 2013-10-03 2023-01-20 28951 ENSG00000071575 OTTHUMG00000090575 uc002rbv.5 AY245544 NM_021643 CCDS1683 Q92519 "12736262|17097562|16715410" MGI:2145021 RGD:1564451 609462 objectId:2250 HGNC:30809 "ENST00000155926.9|NM_021643.4" HGNC:16228 TRIB3 tribbles pseudokinase 3 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ1103G7.3|TRB3" C20orf97 "chromosome 20 open reading frame 97|tribbles homolog 3 (Drosophila)" 2001-07-17 2004-05-04 2013-10-03 2023-01-20 57761 ENSG00000101255 OTTHUMG00000031627 uc002wdm.4 AF250311 NM_021158 "CCDS12997|CCDS77554" Q96RU7 "12791994|16715410" MGI:1345675 RGD:708432 607898 objectId:2251 HGNC:16228 "ENST00000217233.9|NM_021158.5" HGNC:16228 HGNC:22200 TRIL TLR4 interactor with leucine rich repeats protein-coding gene gene with protein product Approved 7p14.3 07p14.3 KIAA0644 2010-09-17 2016-06-06 2023-01-20 9865 ENSG00000255690 OTTHUMG00000152829 uc032zip.2 NM_014817 CCDS75573 Q7L0X0 19710467 MGI:1914123 RGD:1310827 613356 HGNC:22200 "ENST00000539664.3|NM_014817.4" -HGNC:15974 TRIM2 tripartite motif containing 2 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "KIAA0517|RNF86|CMT2R" "RING finger protein 86|Charcot-Marie-Tooth disease, type 2R" tripartite motif-containing 2 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-18 2011-01-25 2023-01-20 23321 ENSG00000109654 OTTHUMG00000155991 uc003ing.3 AF220018 NM_001130067 "CCDS93654|CCDS3781|CCDS93656|CCDS93655|CCDS93653|CCDS47147|CCDS93657" Q9C040 "9628581|11331580|25893792" MGI:1933163 RGD:1310981 614141 401930 2.3.2.27 HGNC:15974 "ENST00000338700.10|NM_015271.5" HGNC:15974 +HGNC:15974 TRIM2 tripartite motif containing 2 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "KIAA0517|RNF86|CMT2R" "RING finger protein 86|Charcot-Marie-Tooth disease, type 2R" tripartite motif-containing 2 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-18 2011-01-25 2023-01-20 23321 ENSG00000109654 OTTHUMG00000155991 uc003ing.3 AF220018 NM_001130067 "CCDS93657|CCDS93654|CCDS47147|CCDS3781|CCDS93656|CCDS93655|CCDS93653" Q9C040 "9628581|11331580|25893792" MGI:1933163 RGD:1310981 614141 401930 2.3.2.27 HGNC:15974 "ENST00000338700.10|NM_015271.5" HGNC:15974 HGNC:10064 TRIM3 tripartite motif containing 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "HAC1|BERP|RNF97" "ring finger protein 22|brain expressed ring finger|tripartite motif protein TRIM3" RNF22 tripartite motif-containing 3 "Ring finger proteins|Tripartite motif family" "58|59" 2000-07-31 2001-11-23 2011-01-25 2023-01-20 10612 ENSG00000110171 OTTHUMG00000133405 uc009yfd.4 AF045239 NM_006458 "CCDS7764|CCDS58115" O75382 10391919 MGI:1860040 RGD:70074 605493 HGNC:10064 "ENST00000345851.8|NM_033278.4" HGNC:16275 TRIM4 tripartite motif containing 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 RNF87 "tripartite motif protein TRIM4|tripartite motif protein 4" tripartite motif-containing 4 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-19 2011-01-25 2023-01-20 89122 ENSG00000146833 OTTHUMG00000156648 uc003usd.4 AF220023 NM_033017 "CCDS5678|CCDS5679" Q9C037 11331580 HGNC:16275 "ENST00000349062.7|NM_033091.3" -HGNC:16276 TRIM5 tripartite motif containing 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "RNF88|TRIM5alpha" "tripartite motif protein TRIM5|tripartite motif protein TRIM" tripartite motif-containing 5 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-20 2011-01-25 2023-01-20 85363 ENSG00000132256 OTTHUMG00000066893 uc001mbm.3 AF220025 NM_033034 "CCDS31393|CCDS91425|CCDS31392|CCDS31394" Q9C035 11331580 MGI:3646853 RGD:1304579 608487 HGNC:16276 "ENST00000380034.8|NM_033034.3" -HGNC:16277 TRIM6 tripartite motif containing 6 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 RNF89 tripartite motif-containing 6 "Ring finger proteins|Tripartite motif family" "58|59" 2001-11-21 2011-01-25 2023-01-20 117854 ENSG00000121236 OTTHUMG00000150029 uc001mbc.3 AF220030 NM_001003818 "CCDS55738|CCDS31389|CCDS31390" Q9C030 11331580 MGI:2137352 RGD:1310896 607564 HGNC:16277 "ENST00000380097.8|NM_001003818.3" +HGNC:16276 TRIM5 tripartite motif containing 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "RNF88|TRIM5alpha" "tripartite motif protein TRIM5|tripartite motif protein TRIM" tripartite motif-containing 5 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-20 2011-01-25 2023-01-20 85363 ENSG00000132256 OTTHUMG00000066893 uc001mbm.3 AF220025 NM_033034 "CCDS31392|CCDS31393|CCDS91425|CCDS31394" Q9C035 11331580 MGI:3646853 RGD:1304579 608487 HGNC:16276 "ENST00000380034.8|NM_033034.3" +HGNC:16277 TRIM6 tripartite motif containing 6 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 RNF89 tripartite motif-containing 6 "Ring finger proteins|Tripartite motif family" "58|59" 2001-11-21 2011-01-25 2023-01-20 117854 ENSG00000121236 OTTHUMG00000150029 uc001mbc.3 AF220030 NM_001003818 "CCDS31390|CCDS31389|CCDS55738" Q9C030 11331580 MGI:2137352 RGD:1310896 607564 HGNC:16277 "ENST00000380097.8|NM_001003818.3" HGNC:33440 TRIM6-TRIM34 TRIM6-TRIM34 readthrough other readthrough Approved 11p15.4 11p15.4 2007-07-31 2011-01-25 2023-03-15 445372 ENSG00000258588 OTTHUMG00000066899 uc001mbf.4 AB039903 NM_001003819 "MGI:2137359|MGI:4821264" HGNC:33440 -HGNC:16278 TRIM7 tripartite motif containing 7 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "RNF90|GNIP" "glycogenin-interacting protein|tripartite motif protein TRIM7" tripartite motif-containing 7 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-31 2011-01-25 2023-01-20 81786 ENSG00000146054 OTTHUMG00000130963 uc003mmz.3 AF220032 NM_203296 "CCDS4464|CCDS43414|CCDS4463|CCDS4462" Q9C029 11331580 MGI:2137353 RGD:1307328 609315 HGNC:16278 "ENST00000274773.12|NM_203293.3" +HGNC:16278 TRIM7 tripartite motif containing 7 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "RNF90|GNIP" "glycogenin-interacting protein|tripartite motif protein TRIM7" tripartite motif-containing 7 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-31 2011-01-25 2023-01-20 81786 ENSG00000146054 OTTHUMG00000130963 uc003mmz.3 AF220032 NM_203296 "CCDS4462|CCDS4464|CCDS4463|CCDS43414" Q9C029 11331580 MGI:2137353 RGD:1307328 609315 HGNC:16278 "ENST00000274773.12|NM_203293.3" HGNC:40764 TRIM7-AS1 TRIM7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Antisense RNAs 1987 2020-04-01 2020-04-01 107986496 ENSG00000250900 OTTHUMG00000163005 XR_001743050 HGNC:56031 TRIM7-AS2 TRIM7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 CTC-338M12.5 Antisense RNAs 1987 2021-12-03 2021-12-03 105377769 ENSG00000250222 NR_183280 HGNC:15579 TRIM8 tripartite motif containing 8 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 GERP "glioblastoma expressed ring finger protein|E3 ubiquitin-protein ligase TRIM8" RNF27 "ring finger protein 27|tripartite motif-containing 8" "Ring finger proteins|Tripartite motif family" "58|59" 2001-04-26 2002-06-14 2011-01-25 2023-01-20 81603 ENSG00000171206 OTTHUMG00000018964 uc001kvz.3 AF281046 NM_030912 CCDS31274 Q9BZR9 "11118312|12163497|27346735" MGI:1933302 RGD:1585223 606125 2.3.2.27 HGNC:15579 "ENST00000643721.2|NM_030912.3" HGNC:15579 HGNC:55573 TRIM8-DT TRIM8 divergent transcript non-coding RNA RNA, long non-coding Approved 10q24.32 10q24.32 Divergent transcripts 1990 2021-04-21 2021-04-21 121232369 ENSG00000272933 -HGNC:16288 TRIM9 tripartite motif containing 9 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "SPRING|RNF91" SNAP-25-interacting RING finger protein tripartite motif-containing 9 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 2001-08-24 2011-01-25 2023-01-20 114088 ENSG00000100505 OTTHUMG00000140291 uc001wyx.5 AF220036 NM_015163 "CCDS45105|CCDS91879|CCDS9703" Q9C026 "11331580|11524423" MGI:2137354 RGD:621540 606555 HGNC:16288 "ENST00000684578.1|NM_001387360.1" +HGNC:16288 TRIM9 tripartite motif containing 9 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "SPRING|RNF91" SNAP-25-interacting RING finger protein tripartite motif-containing 9 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 2001-08-24 2011-01-25 2023-01-20 114088 ENSG00000100505 OTTHUMG00000140291 uc001wyx.5 AF220036 NM_015163 "CCDS91879|CCDS9703|CCDS45105" Q9C026 "11331580|11524423" MGI:2137354 RGD:621540 606555 HGNC:16288 "ENST00000684578.1|NM_001387360.1" HGNC:10072 TRIM10 tripartite motif containing 10 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "RFB30|HERF1" RNF9 tripartite motif-containing 10 "Ring finger proteins|Tripartite motif family" "58|59" 1999-06-18 2001-11-23 2011-01-25 2023-01-20 10107 ENSG00000204613 OTTHUMG00000031295 uc011ihw.3 Y07829 NM_006778 "CCDS34375|CCDS4676" Q9UDY6 "9271628|10207104" MGI:1338757 RGD:1359438 605701 HGNC:10072 "ENST00000449742.7|NM_006778.4" HGNC:16281 TRIM11 tripartite motif containing 11 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "RNF92|BIA1" tripartite motif-containing 11 "Ring finger proteins|Tripartite motif family|MicroRNA protein coding host genes" "58|59|1691" 2001-08-07 2011-01-25 2023-01-20 81559 ENSG00000154370 OTTHUMG00000039773 uc001hss.4 AF220125 NM_145214 CCDS31048 Q96F44 11331580 MGI:2137355 RGD:1305448 607868 HGNC:16281 "ENST00000284551.11|NM_145214.3" HGNC:9976 TRIM13 tripartite motif containing 13 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "Leu5|RNF77|DLEU5" RFP2 "ret finger protein 2|tripartite motif-containing 13" "Ring finger proteins|Tripartite motif family" "58|59" 1999-12-01 2006-09-26 2011-01-25 2023-01-20 10206 ENSG00000204977 OTTHUMG00000016926 uc001vds.2 AF220127 NM_001007278 "CCDS41888|CCDS9423" O60858 9599022 MGI:1913847 RGD:1307609 605661 HGNC:9976 "ENST00000378182.4|NM_213590.3" HGNC:16283 TRIM14 tripartite motif containing 14 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 KIAA0129 tripartite motif-containing 14 Tripartite motif family 59 2001-07-31 2011-01-25 2023-03-15 9830 ENSG00000106785 OTTHUMG00000020339 uc064urn.1 AF220130 NM_014788 CCDS6734 Q14142 11331580 MGI:1921985 RGD:1311514 606556 HGNC:16283 "ENST00000341469.7|NM_014788.4" HGNC:16284 TRIM15 tripartite motif containing 15 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZNFB7|RNF93" ZNF178 "zinc finger protein 178|tripartite motif-containing 15" "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-31 2011-01-25 2023-01-20 89870 ENSG00000204610 OTTHUMG00000031031 uc063ylb.1 "AF220132|U34249" NM_033229 CCDS4677 Q9C019 "11331580|8304341|8812418" MGI:1916347 RGD:6496746 HGNC:16284 "ENST00000376694.9|NM_033229.3" -HGNC:17241 TRIM16 tripartite motif containing 16 protein-coding gene gene with protein product Approved 17p12 17p12 EBBP estrogen-responsive B box protein tripartite motif-containing 16 Tripartite motif family 59 2001-11-22 2011-01-25 2023-01-20 10626 ENSG00000221926 OTTHUMG00000059067 uc002gox.4 AF096870 NM_006470 "CCDS86578|CCDS86579|CCDS11171" O95361 11331580 MGI:2137356 RGD:1309749 609505 HGNC:17241 "ENST00000649191.2|NM_001348119.1" +HGNC:17241 TRIM16 tripartite motif containing 16 protein-coding gene gene with protein product Approved 17p12 17p12 EBBP estrogen-responsive B box protein tripartite motif-containing 16 Tripartite motif family 59 2001-11-22 2011-01-25 2023-01-20 10626 ENSG00000221926 OTTHUMG00000059067 uc002gox.4 AF096870 NM_006470 "CCDS86579|CCDS86578|CCDS11171" O95361 11331580 MGI:2137356 RGD:1309749 609505 HGNC:17241 "ENST00000649191.2|NM_001348119.1" HGNC:32670 TRIM16L tripartite motif containing 16 like (pseudogene) pseudogene pseudogene Approved 17p11.2 17p11.2 TRIM70 "tripartite motif-containing 16-like|tripartite motif containing 16 like" 2006-03-29 2023-05-15 2023-05-15 147166 ENSG00000108448 OTTHUMG00000059050 uc010cqg.2 DQ232882 NR_172633 Q309B1 MGI:2137356 HGNC:32670 HGNC:13430 TRIM17 tripartite motif containing 17 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "terf|RBCC" "ring finger protein 16|RING finger protein terf|testis RING finger protein" RNF16 tripartite motif-containing 17 "Ring finger proteins|Tripartite motif family" "58|59" 2000-03-15 2001-11-30 2011-01-25 2023-03-15 51127 ENSG00000162931 OTTHUMG00000039974 uc001hsv.4 AF156271 NM_016102 "CCDS1571|CCDS44327" Q9Y577 "9792805|10894938" MGI:1861440 RGD:69290 606123 HGNC:13430 "ENST00000366698.7|NM_016102.4" HGNC:11312 TRIM21 tripartite motif containing 21 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "RNF81|RO52" "Ro/SSA 52kDa|E3 ubiquitin-protein ligase TRIM21" SSA1 "Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)|tripartite motif-containing 21" "Ring finger proteins|Tripartite motif family" "58|59" 1994-01-06 2004-11-26 2011-01-25 2023-01-20 6737 ENSG00000132109 OTTHUMG00000165701 uc001lyy.2 AF391283 NM_003141 CCDS44525 P19474 8094596 MGI:106657 RGD:1305795 109092 objectId:2967 2.3.2.27 HGNC:11312 "ENST00000254436.8|NM_003141.4" HGNC:16379 TRIM22 tripartite motif containing 22 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "STAF50|GPSTAF50|RNF94" tripartite motif-containing 22 "Ring finger proteins|Tripartite motif family|Minor histocompatibility antigens" "58|59|870" 2001-08-10 2011-01-25 2023-01-20 10346 ENSG00000132274 OTTHUMG00000066904 uc001mbr.4 X82200 NM_006074 CCDS41612 Q8IYM9 "11331580|11096452" 606559 471254 HGNC:16379 "ENST00000379965.8|NM_006074.5" HGNC:16379 -HGNC:660 TRIM23 tripartite motif containing 23 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "ARD1|RNF46" ARFD1 "ADP-ribosylation factor domain protein 1, 64kDa|tripartite motif-containing 23" "Ring finger proteins|Tripartite motif family|ARF GTPase family" "58|59|357" 1994-06-23 2004-06-04 2011-01-25 2023-01-20 373 ENSG00000113595 OTTHUMG00000097802 uc003jty.4 L04510 NM_001656 "CCDS3986|CCDS43322|CCDS3987" P36406 8473324 MGI:1933161 RGD:621587 601747 HGNC:660 "ENST00000231524.14|NM_001656.4" HGNC:660 +HGNC:660 TRIM23 tripartite motif containing 23 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "ARD1|RNF46" ARFD1 "ADP-ribosylation factor domain protein 1, 64kDa|tripartite motif-containing 23" "Ring finger proteins|Tripartite motif family|ARF GTPase family" "58|59|357" 1994-06-23 2004-06-04 2011-01-25 2023-01-20 373 ENSG00000113595 OTTHUMG00000097802 uc003jty.4 L04510 NM_001656 "CCDS43322|CCDS3987|CCDS3986" P36406 8473324 MGI:1933161 RGD:621587 601747 HGNC:660 "ENST00000231524.14|NM_001656.4" HGNC:660 HGNC:11812 TRIM24 tripartite motif containing 24 protein-coding gene gene with protein product Approved 7q33-q34 07q33-q34 "hTIF1|Tif1a|RNF82|TIF1A" TIF1 "transcriptional intermediary factor 1|tripartite motif-containing 24" "Ring finger proteins|Tripartite motif family|PHD finger proteins|Bromodomain containing" "58|59|88|1232" 1998-12-18 2005-06-02 2011-01-25 2023-01-20 8805 ENSG00000122779 OTTHUMG00000155820 uc003vuc.4 AF009353 NM_015905 "CCDS47720|CCDS5847" O15164 "9115274|9191165" MGI:109275 RGD:1560596 TRIM24 603406 120263 objectId:2252 HGNC:11812 "ENST00000343526.9|NM_015905.3" HGNC:12932 TRIM25 tripartite motif containing 25 protein-coding gene gene with protein product Approved 17q22 17q22 "EFP|RNF147" ZNF147 "zinc finger protein 147 (estrogen-responsive finger protein)|tripartite motif-containing 25" "Ring finger proteins|Tripartite motif family|MicroRNA protein coding host genes" "58|59|1691" 1994-03-16 2004-03-30 2011-01-25 2023-01-20 7706 ENSG00000121060 OTTHUMG00000178124 uc002iut.4 D21205 NM_005082 CCDS11591 Q14258 7789997 MGI:102749 RGD:1594396 600453 HGNC:12932 "ENST00000316881.9|NM_005082.5" HGNC:12962 TRIM26 tripartite motif containing 26 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 RNF95 ZNF173 tripartite motif-containing 26 "Ring finger proteins|Tripartite motif family" "58|59" 1995-07-11 2001-11-23 2011-01-25 2023-01-20 7726 ENSG00000234127 OTTHUMG00000031041 uc011iib.3 AB088090 NM_003449 CCDS4678 Q12899 8530076 MGI:1337056 RGD:1359126 600830 HGNC:12962 "ENST00000454678.7|NM_003449.5" HGNC:31338 TRIM26BP tripartite motif containing 26B, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "Em:AB023053.1|TRIM26P1" tripartite motif containing 26 pseudogene 1 TRIM26P tripartite motif-containing 26 pseudogene Tripartite motif family 59 2004-03-02 2012-05-21 2012-05-21 2016-10-05 404024 ENSG00000236475 OTTHUMG00000031283 NG_023052 PGOHUM00000243569 HGNC:31338 HGNC:9975 TRIM27 tripartite motif containing 27 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 RNF76 RFP "ret finger protein|tripartite motif-containing 27" "Ring finger proteins|Tripartite motif family" "58|59" 1995-05-09 2006-09-26 2011-01-25 2023-03-15 5987 ENSG00000204713 OTTHUMG00000031215 uc003nlr.4 Z58939 NM_030950 CCDS4654 P14373 8114113 MGI:97904 RGD:1310105 TRIM27 602165 120269 HGNC:9975 "ENST00000377199.4|NM_006510.5" HGNC:16384 TRIM28 tripartite motif containing 28 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "TIF1B|KAP1|TF1B|RNF96|PPP1R157|KAP-1|TIF1-beta|TIF1beta" "protein phosphatase 1, regulatory subunit 157|Transcription intermediary factor 1-beta|RING finger protein 96|KRAB-associated protein 1" tripartite motif-containing 28 "Ring finger proteins|Tripartite motif family|PHD finger proteins|Protein phosphatase 1 regulatory subunits|Bromodomain containing|MicroRNA protein coding host genes" "58|59|88|694|1232|1691" 2001-08-10 2011-01-25 2023-01-20 10155 ENSG00000130726 OTTHUMG00000183546 uc002qtg.2 NM_005762 CCDS12985 Q13263 "11331580|11226167|25882849" MGI:109274 RGD:620289 601742 objectId:2253 2.3.2.27 HGNC:16384 "ENST00000253024.10|NM_005762.3" HGNC:16384 -HGNC:17274 TRIM29 tripartite motif containing 29 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "ATDC|FLJ36085" "tripartite motif protein TRIM29|ataxia-telangiectasia group D-associated protein" tripartite motif-containing 29 Tripartite motif family 59 2001-11-28 2011-01-25 2023-03-15 23650 ENSG00000137699 OTTHUMG00000140377 uc001pwz.4 AF230388 NM_012101 "CCDS81637|CCDS8428" Q14134 11331580 MGI:1919419 RGD:1307858 610658 HGNC:17274 "ENST00000341846.10|NM_012101.4" +HGNC:17274 TRIM29 tripartite motif containing 29 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "ATDC|FLJ36085" "tripartite motif protein TRIM29|ataxia-telangiectasia group D-associated protein" tripartite motif-containing 29 Tripartite motif family 59 2001-11-28 2011-01-25 2023-03-15 23650 ENSG00000137699 OTTHUMG00000140377 uc001pwz.4 AF230388 NM_012101 "CCDS8428|CCDS81637" Q14134 11331580 MGI:1919419 RGD:1307858 610658 HGNC:17274 "ENST00000341846.10|NM_012101.4" HGNC:16289 TRIM31 tripartite motif containing 31 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "RNF|HCGI|C6orf13|HCG1" tripartite motif-containing 31 "Ring finger proteins|Tripartite motif family" "58|59" 2001-08-16 2011-01-25 2023-01-20 11074 ENSG00000204616 OTTHUMG00000031064 uc011ihp.3 AF230386 NM_007028 CCDS34374 Q9BZY9 11331580 MGI:2385051 RGD:1308607 609316 HGNC:16289 "ENST00000376734.4|NM_007028.5" HGNC:39761 TRIM31-AS1 TRIM31 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 TRIM31 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-08 2012-08-15 2012-10-12 104533120 ENSG00000231226 OTTHUMG00000130787 uc063xfr.1 NR_126470 TRIM31-AS1 HGNC:39761 HGNC:16380 TRIM32 tripartite motif containing 32 protein-coding gene gene with protein product Approved 9q33.1 09q33.1 "HT2A|TATIP|BBS11" LGMD2H "limb girdle muscular dystrophy 2H (autosomal recessive)|tripartite motif-containing 32|E3 ubiquitin-protein ligase TRIM32" "Ring finger proteins|Tripartite motif family" "58|59" 2001-08-10 2011-01-25 2023-01-20 22954 ENSG00000119401 OTTHUMG00000021026 uc004bjw.3 U18543 NM_012210 CCDS6817 Q13049 "11331580|7778269|16606853|19349376" MGI:1917057 RGD:1305238 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/TRIM32|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TRIM32|LRG_211|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_211.xml" 602290 120273 2.3.2.27 HGNC:16380 "ENST00000450136.2|NM_012210.4" HGNC:16380 HGNC:16290 TRIM33 tripartite motif containing 33 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "TIF1GAMMA|FLJ11429|KIAA1113|TIFGAMMA|RFG7|TF1G|TIF1G|PTC7" "transcriptional intermediary factor 1 gamma|ret-fused gene 7" tripartite motif-containing 33 "Ring finger proteins|Tripartite motif family|PHD finger proteins|Bromodomain containing" "58|59|88|1232" 2001-08-10 2011-01-25 2023-01-20 51592 ENSG00000197323 OTTHUMG00000011891 uc001eew.3 AF220136 NM_015906 "CCDS872|CCDS873" Q9UPN9 "11331580|10022127" MGI:2137357 RGD:1307339 TRIM33 605769 120279 objectId:2254 HGNC:16290 "ENST00000358465.7|NM_015906.4" HGNC:10063 TRIM34 tripartite motif containing 34 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 RNF21 tripartite motif-containing 34 "Ring finger proteins|Tripartite motif family" "58|59" 2000-05-23 2001-11-23 2011-01-25 2023-03-15 53840 ENSG00000258659 OTTHUMG00000066892 uc001mbh.4 AB039902 NM_001003827 CCDS31391 Q9BYJ4 "MGI:2137359|MGI:4821264" RGD:7240857 605684 HGNC:10063 "ENST00000429814.3|NM_021616.6" HGNC:16285 TRIM35 tripartite motif containing 35 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "KIAA1098|MAIR|HLS5" tripartite motif-containing 35 "Ring finger proteins|Tripartite motif family" "58|59" 2001-11-21 2011-01-25 2023-01-20 23087 ENSG00000104228 OTTHUMG00000102047 uc003xfl.2 AB029021 NM_171982 "CCDS6056|CCDS78322" Q9UPQ4 "11331580|14662771|12692137" MGI:1914104 RGD:1564642 617007 HGNC:16285 "ENST00000305364.9|NM_171982.5" -HGNC:16280 TRIM36 tripartite motif containing 36 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "RBCC728|RNF98|HAPRIN" "zinc-binding protein Rbcc728|tripartite motif protein 36|RING finger protein 98" tripartite motif-containing 36 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 2001-11-21 2011-01-25 2023-01-20 55521 ENSG00000152503 OTTHUMG00000128892 uc003kqs.4 AJ272269 NM_018700 "CCDS75287|CCDS4115|CCDS34211|CCDS78047|CCDS34212" Q9NQ86 11331580 MGI:106264 RGD:1308714 609317 HGNC:16280 "ENST00000513154.6|NM_001300759.2" +HGNC:16280 TRIM36 tripartite motif containing 36 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "RBCC728|RNF98|HAPRIN" "zinc-binding protein Rbcc728|tripartite motif protein 36|RING finger protein 98" tripartite motif-containing 36 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 2001-11-21 2011-01-25 2023-01-20 55521 ENSG00000152503 OTTHUMG00000128892 uc003kqs.4 AJ272269 NM_018700 "CCDS78047|CCDS4115|CCDS75287|CCDS34212|CCDS34211" Q9NQ86 11331580 MGI:106264 RGD:1308714 609317 HGNC:16280 "ENST00000513154.6|NM_001300759.2" HGNC:41422 TRIM36-IT1 TRIM36 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q22.3 05q22.3 TRIM36 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874338 ENSG00000250472 OTTHUMG00000163154 uc063gct.1 TRIM36-IT1 -HGNC:7523 TRIM37 tripartite motif containing 37 protein-coding gene gene with protein product Approved 17q22 17q22 "KIAA0898|POB1|TEF3" "RING-B-box-coiled-coil protein|E3 ubiquitin-protein ligase TRIM37" MUL "tripartite motif-containing 37|Mulibrey nanism" "Ring finger proteins|Tripartite motif family" "58|59" 1995-09-08 2001-11-30 2011-01-25 2023-01-20 4591 ENSG00000108395 OTTHUMG00000179360 uc002iwy.5 AB020705 NM_015294 "CCDS82174|CCDS45746|CCDS32694" O94972 "9106536|10888877" MGI:2153072 RGD:1308349 605073 120289 2.3.2.27 HGNC:7523 "ENST00000262294.12|NM_015294.6" HGNC:7523 +HGNC:7523 TRIM37 tripartite motif containing 37 protein-coding gene gene with protein product Approved 17q22 17q22 "KIAA0898|POB1|TEF3" "RING-B-box-coiled-coil protein|E3 ubiquitin-protein ligase TRIM37" MUL "tripartite motif-containing 37|Mulibrey nanism" "Ring finger proteins|Tripartite motif family" "58|59" 1995-09-08 2001-11-30 2011-01-25 2023-01-20 4591 ENSG00000108395 OTTHUMG00000179360 uc002iwy.5 AB020705 NM_015294 "CCDS45746|CCDS32694|CCDS82174" O94972 "9106536|10888877" MGI:2153072 RGD:1308349 605073 120289 2.3.2.27 HGNC:7523 "ENST00000262294.12|NM_015294.6" HGNC:7523 HGNC:10059 TRIM38 tripartite motif containing 38 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 RORET RNF15 "ring finger protein 15|tripartite motif-containing 38" "Ring finger proteins|Tripartite motif family" "58|59" 2000-03-06 2002-06-07 2011-01-25 2023-01-20 10475 ENSG00000112343 OTTHUMG00000014414 uc003nfm.5 U90547 NM_006355 CCDS4568 O00635 MGI:2684869 RGD:1596868 objectId:2984 HGNC:10059 "ENST00000357085.5|NM_006355.5" -HGNC:10065 TRIM39 tripartite motif containing 39 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 RNF23 "ring finger protein 23|tripartite motif-containing 39" "Ring finger proteins|Tripartite motif family" "58|59" 2000-07-31 2002-06-07 2011-01-25 2023-01-20 56658 ENSG00000204599 OTTHUMG00000031066 uc010jrz.4 BC034985 NM_172016 "CCDS34378|CCDS34377" Q9HCM9 11006080 MGI:1890659 RGD:1303115 605700 HGNC:10065 "ENST00000396551.9|NM_001369521.2" +HGNC:10065 TRIM39 tripartite motif containing 39 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 RNF23 "ring finger protein 23|tripartite motif-containing 39" "Ring finger proteins|Tripartite motif family" "58|59" 2000-07-31 2002-06-07 2011-01-25 2023-01-20 56658 ENSG00000204599 OTTHUMG00000031066 uc010jrz.4 BC034985 NM_172016 "CCDS34377|CCDS34378" Q9HCM9 11006080 MGI:1890659 RGD:1303115 605700 HGNC:10065 "ENST00000396551.9|NM_001369521.2" HGNC:38845 TRIM39-RPP21 TRIM39-RPP21 readthrough other readthrough Approved 6p22.1 06p22.1 2011-02-21 2023-03-15 202658 ENSG00000248167 OTTHUMG00000161144 uc063mrm.1 NM_001199119.1 HGNC:38845 -HGNC:18736 TRIM40 tripartite motif containing 40 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 RNF35 tripartite motif-containing 40 "Ring finger proteins|Tripartite motif family" "58|59" 2002-06-11 2011-01-25 2023-01-20 135644 ENSG00000204614 OTTHUMG00000031083 uc011ihs.1 AF489517 NM_001286633 "CCDS4675|CCDS69069" Q6P9F5 MGI:2684881 RGD:1359645 616976 HGNC:18736 "ENST00000396581.6|NM_001286633.2" +HGNC:18736 TRIM40 tripartite motif containing 40 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 RNF35 tripartite motif-containing 40 "Ring finger proteins|Tripartite motif family" "58|59" 2002-06-11 2011-01-25 2023-01-20 135644 ENSG00000204614 OTTHUMG00000031083 uc011ihs.1 AF489517 NM_001286633 "CCDS69069|CCDS4675" Q6P9F5 MGI:2684881 RGD:1359645 616976 HGNC:18736 "ENST00000396581.6|NM_001286633.2" HGNC:19013 TRIM41 tripartite motif containing 41 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "MGC1127|RINCK" RING-finger protein that interacts with C kinase tripartite motif-containing 41 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 90933 ENSG00000146063 OTTHUMG00000130965 uc003mne.3 AF258579 NM_201627 "CCDS4465|CCDS4466" Q8WV44 16022281 MGI:2384814 RGD:1308885 610530 HGNC:19013 "ENST00000315073.10|NM_033549.5" HGNC:19014 TRIM42 tripartite motif containing 42 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ40097|PPP1R40|T4A1" protein phosphatase 1, regulatory subunit 40 tripartite motif-containing 42 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing|Protein phosphatase 1 regulatory subunits|Minor histocompatibility antigens" "58|59|555|694|870" 2003-01-03 2011-01-25 2023-01-20 287015 ENSG00000155890 OTTHUMG00000160170 uc003eto.3 AF521868 NM_152616 CCDS3113 Q8IWZ5 MGI:1926161 RGD:1359699 620334 HGNC:19014 "ENST00000286349.4|NM_152616.5" HGNC:19015 TRIM43 tripartite motif containing 43 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 TRIM43A tripartite motif-containing 43 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 129868 ENSG00000144015 OTTHUMG00000130401 uc002suv.4 BK000505 NM_138800 CCDS2015 Q96BQ3 "MGI:3645218|MGI:3647365|MGI:3648996" RGD:1561074 HGNC:19015 "ENST00000272395.3|NM_138800.3" HGNC:37146 TRIM43B tripartite motif containing 43B protein-coding gene gene with protein product Approved 2q11.1 02q11.1 tripartite motif-containing 43B "Ring finger proteins|Tripartite motif family" "58|59" 2009-07-24 2011-01-25 2023-01-20 653192 ENSG00000144010 OTTHUMG00000155170 NM_001164464 CCDS92808 A6NCK2 "MGI:3645218|MGI:3647365|MGI:3648996" HGNC:37146 "ENST00000639673.3|NM_001164464.2" HGNC:43981 TRIM43CP tripartite motif containing 43C, pseudogene pseudogene pseudogene Approved 2q11.2 02q11.2 Tripartite motif family 59 2012-05-21 2012-11-02 643445 ENSG00000144188 OTTHUMG00000155327 NG_028773 PGOHUM00000240216 HGNC:43981 HGNC:19016 TRIM44 tripartite motif containing 44 protein-coding gene gene with protein product Approved 11p13 11p13 "DIPB|MC7" tripartite motif-containing 44 Tripartite motif family 59 2003-01-03 2011-01-25 2023-01-20 54765 ENSG00000166326 OTTHUMG00000166312 uc001mwi.3 BC024031 NM_017583 CCDS31461 Q96DX7 "19358823|34382902" MGI:1931835 RGD:1304877 612298 445573 HGNC:19016 "ENST00000299413.7|NM_017583.6" HGNC:19016 -HGNC:19018 TRIM45 tripartite motif containing 45 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "FLJ13181|RNF99" tripartite motif-containing 45 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 80263 ENSG00000134253 OTTHUMG00000012119 uc001egz.3 NM_025188 "CCDS893|CCDS44200" Q9H8W5 15351693 MGI:1918187 RGD:1309168 609318 HGNC:19018 "ENST00000256649.9|NM_025188.4" -HGNC:19019 TRIM46 tripartite motif containing 46 protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ23229|TRIFIC" tripartite motif-containing 46 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 80128 ENSG00000163462 OTTHUMG00000035680 uc001fhs.3 NM_025058 "CCDS1097|CCDS72931|CCDS58033|CCDS72932|CCDS60285" Q7Z4K8 MGI:2673000 RGD:1305993 600986 HGNC:19019 "ENST00000334634.9|NM_025058.5" +HGNC:19018 TRIM45 tripartite motif containing 45 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "FLJ13181|RNF99" tripartite motif-containing 45 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 80263 ENSG00000134253 OTTHUMG00000012119 uc001egz.3 NM_025188 "CCDS44200|CCDS893" Q9H8W5 15351693 MGI:1918187 RGD:1309168 609318 HGNC:19018 "ENST00000256649.9|NM_025188.4" +HGNC:19019 TRIM46 tripartite motif containing 46 protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ23229|TRIFIC" tripartite motif-containing 46 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 80128 ENSG00000163462 OTTHUMG00000035680 uc001fhs.3 NM_025058 "CCDS60285|CCDS1097|CCDS72931|CCDS72932|CCDS58033" Q7Z4K8 MGI:2673000 RGD:1305993 600986 HGNC:19019 "ENST00000334634.9|NM_025058.5" HGNC:19020 TRIM47 tripartite motif containing 47 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "GOA|RNF100" tripartite motif-containing 47 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 91107 ENSG00000132481 OTTHUMG00000179916 uc002jpw.4 AY026763 NM_033452 CCDS32737 Q96LD4 MGI:1917374 RGD:1597317 611041 HGNC:19020 "ENST00000254816.6|NM_033452.3" HGNC:19021 TRIM48 tripartite motif containing 48 protein-coding gene gene with protein product Approved 11q11 11q11 RNF101 tripartite motif-containing 48 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 79097 ENSG00000150244 OTTHUMG00000157011 uc010rid.2 AF521869 NM_024114 CCDS7947 Q8IWZ4 HGNC:19021 "ENST00000417545.5|NM_024114.5" HGNC:13431 TRIM49 tripartite motif containing 49 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 TRIM49A RNF18 "ring finger protein 18|tripartite motif-containing 49" "Ring finger proteins|Tripartite motif family" "58|59" 2000-12-21 2004-11-17 2011-01-25 2023-01-20 57093 ENSG00000168930 OTTHUMG00000167634 uc001pdb.3 AB037682 NM_020358 CCDS8287 P0CI25 11018261 "MGI:3645218|MGI:3647365|MGI:3648996" 606124 HGNC:13431 "ENST00000329758.5|NM_020358.2" @@ -40239,13 +40242,13 @@ HGNC:43966 TRIM51FP tripartite motif-containing 51F, pseudogene pseudogene pseud HGNC:43972 TRIM51G tripartite motif-containing 51G protein-coding gene gene with protein product Approved 11p11.12 11p11.12 TRIM51GP tripartite motif-containing 51G, pseudogene Tripartite motif family 59 2012-05-21 2021-09-29 2021-09-29 2023-01-20 120824 ENSG00000220948 OTTHUMG00000165215 NM_001396075 CCDS91472 A0A3B3IT33 "MGI:3645218|MGI:3647365|MGI:3648996" PGOHUM00000257809 HGNC:43972 "ENST00000534741.3|NM_001396075.1" HGNC:43977 TRIM51HP tripartite motif-containing 51H, pseudogene pseudogene pseudogene Approved 11q11 11q11 Tripartite motif family 59 2012-05-21 2012-11-02 440041 ENSG00000166007 OTTHUMG00000166775 NR_038174 PGOHUM00000257821 HGNC:43977 HGNC:43978 TRIM51JP tripartite motif-containing 51J, pseudogene pseudogene pseudogene Approved 2q11.1 02q11.1 Tripartite motif family 59 2012-05-21 2012-11-02 643126 ENSG00000232717 OTTHUMG00000155155 NG_028919 PGOHUM00000258144 HGNC:43978 -HGNC:19024 TRIM52 tripartite motif containing 52 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 RNF102 tripartite motif-containing 52 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 84851 ENSG00000183718 OTTHUMG00000130964 uc003mnp.4 NM_032765 "CCDS4467|CCDS93846|CCDS93844|CCDS93843|CCDS93845" Q96A61 MGI:3045276 RGD:1565615 619265 HGNC:19024 "ENST00000688015.1|NM_001346048.2" +HGNC:19024 TRIM52 tripartite motif containing 52 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 RNF102 tripartite motif-containing 52 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 84851 ENSG00000183718 OTTHUMG00000130964 uc003mnp.4 NM_032765 "CCDS93845|CCDS93843|CCDS4467|CCDS93846|CCDS93844" Q96A61 MGI:3045276 RGD:1565615 619265 HGNC:19024 "ENST00000688015.1|NM_001346048.2" HGNC:49006 TRIM52-AS1 TRIM52 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Antisense RNAs 1987 2013-07-30 2013-07-30 2016-11-18 100507602 ENSG00000248275 OTTHUMG00000163002 NR_102759 26934858 619266 TRIM52-AS1 HGNC:49006 HGNC:19025 TRIM53AP tripartite motif containing 53A, pseudogene pseudogene pseudogene Approved 11q14.3 11q14.3 "TRIM53|TRIM53P" "tripartite motif-containing 53|tripartite motif containing 53|tripartite motif containing 53, pseudogene" Tripartite motif family 59 2004-11-17 2012-05-21 2012-05-21 2012-11-02 642569 ENSG00000225581 OTTHUMG00000167651 AP004607 NR_028346 PGOHUM00000257854 HGNC:19025 HGNC:37144 TRIM53BP tripartite motif containing 53B, pseudogene pseudogene pseudogene Approved 11q14.3 11q14.3 "TRIM53L|TRIM53B|TRIM80P" "tripartite motif-containing 53-like|tripartite motif containing 53B|tripartite motif containing 80, pseudogene" Tripartite motif family 59 2009-07-24 2012-05-21 2012-05-21 2021-10-07 642425 ENSG00000166013 OTTHUMG00000160564 NG_012754 PGOHUM00000257908 HGNC:37144 HGNC:43979 TRIM53CP tripartite motif containing 53C, pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 Tripartite motif family 59 2012-05-21 2012-11-02 340970 ENSG00000254764 OTTHUMG00000166638 NG_021782 PGOHUM00000242232 HGNC:43979 -HGNC:16008 TRIM54 tripartite motif containing 54 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "MURF|MURF-3" RNF30 "ring finger protein 30|tripartite motif-containing 54" "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-02 2004-11-17 2011-01-25 2023-01-20 57159 ENSG00000138100 OTTHUMG00000097078 uc002rjo.4 AJ291714 NM_187841 "CCDS1745|CCDS1746" Q9BYV2 11243782 MGI:1889623 RGD:1306453 606474 471256 HGNC:16008 "ENST00000380075.7|NM_187841.3" -HGNC:14215 TRIM55 tripartite motif containing 55 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 MURF-2 RNF29 "ring finger protein 29|tripartite motif-containing 55" "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-02 2004-11-17 2011-01-25 2023-01-20 84675 ENSG00000147573 OTTHUMG00000164473 uc003xvv.4 AJ291712 NM_184085 "CCDS6186|CCDS6184|CCDS6187|CCDS6185" Q9BYV6 11243782 MGI:3036269 RGD:1306943 606469 HGNC:14215 "ENST00000315962.9|NM_184085.2" +HGNC:16008 TRIM54 tripartite motif containing 54 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "MURF|MURF-3" RNF30 "ring finger protein 30|tripartite motif-containing 54" "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-02 2004-11-17 2011-01-25 2023-01-20 57159 ENSG00000138100 OTTHUMG00000097078 uc002rjo.4 AJ291714 NM_187841 "CCDS1746|CCDS1745" Q9BYV2 11243782 MGI:1889623 RGD:1306453 606474 471256 HGNC:16008 "ENST00000380075.7|NM_187841.3" +HGNC:14215 TRIM55 tripartite motif containing 55 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 MURF-2 RNF29 "ring finger protein 29|tripartite motif-containing 55" "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-02 2004-11-17 2011-01-25 2023-01-20 84675 ENSG00000147573 OTTHUMG00000164473 uc003xvv.4 AJ291712 NM_184085 "CCDS6187|CCDS6186|CCDS6185|CCDS6184" Q9BYV6 11243782 MGI:3036269 RGD:1306943 606469 HGNC:14215 "ENST00000315962.9|NM_184085.2" HGNC:19028 TRIM56 tripartite motif containing 56 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 RNF109 tripartite motif-containing 56 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2023-01-20 81844 ENSG00000169871 OTTHUMG00000157032 uc003uxq.4 BK000511 NM_030961 CCDS43625 Q9BRZ2 MGI:2685298 RGD:40958426 616996 HGNC:19028 "ENST00000306085.11|NM_030961.3" HGNC:24150 TRIM58 tripartite motif containing 58 protein-coding gene gene with protein product Approved 1q44 01q44 BIA2 tripartite motif-containing 58 "Ring finger proteins|Tripartite motif family" "58|59" 2004-11-17 2011-01-25 2023-01-20 25893 ENSG00000162722 OTTHUMG00000040203 uc001ido.4 AF327057 NM_015431 CCDS1636 Q8NG06 MGI:2684862 RGD:1566174 HGNC:24150 "ENST00000366481.4|NM_015431.4" HGNC:30834 TRIM59 tripartite motif containing 59 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "TSBF1|Mrf1|RNF104" TRIM57 "tripartite motif-containing 57|tripartite motif-containing 59" "Ring finger proteins|Tripartite motif family" "58|59" 2004-07-12 2011-01-25 2023-01-20 286827 ENSG00000213186 OTTHUMG00000159034 uc003fdm.4 AY159379 NM_173084 CCDS3190 Q8IWR1 12095697 MGI:1914199 RGD:1311956 616148 HGNC:30834 "ENST00000309784.9|NM_173084.3" @@ -40280,8 +40283,8 @@ HGNC:43974 TRIM64DP tripartite motif containing 64D, pseudogene pseudogene pseud HGNC:43975 TRIM64EP tripartite motif containing 64E, pseudogene pseudogene pseudogene Approved 11q14.3 11q14.3 Tripartite motif family 59 2012-05-21 2012-11-02 440061 ENSG00000223709 OTTHUMG00000167656 NG_028917 PGOHUM00000257857 HGNC:43975 HGNC:43976 TRIM64FP tripartite motif containing 64F, pseudogene pseudogene pseudogene Approved 2q11.1 02q11.1 Tripartite motif family 59 2012-05-21 2012-11-02 390233 ENSG00000226185 OTTHUMG00000155177 NG_028781 PGOHUM00000240791 HGNC:43976 HGNC:27316 TRIM65 tripartite motif containing 65 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 tripartite motif-containing 65 "Ring finger proteins|Tripartite motif family" "58|59" 2004-11-19 2011-01-25 2023-01-20 201292 ENSG00000141569 OTTHUMG00000132127 uc002jpx.4 BC006138 NM_173547 CCDS11732 Q6PJ69 "24778252|27012201" MGI:2442815 RGD:1559497 619408 HGNC:27316 "ENST00000269383.8|NM_173547.4" -HGNC:29005 TRIM66 tripartite motif containing 66 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA0298|TIF1D" C11orf29 "chromosome 11 open reading frame 29|tripartite motif-containing 66" "Tripartite motif family|PHD finger proteins|Bromodomain containing" "59|88|1232" 2004-11-19 2011-01-25 2023-03-15 9866 ENSG00000166436 OTTHUMG00000150481 uc057ysc.1 AB002296 NM_014818 "CCDS91432|CCDS91433" O15016 9205841 MGI:2152406 RGD:1595847 612000 objectId:2783 HGNC:29005 "ENST00000646038.2|NM_001388022.1" -HGNC:31859 TRIM67 tripartite motif containing 67 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 TNL tripartite motif-containing 67 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 2004-11-19 2011-01-25 2023-01-20 440730 ENSG00000119283 OTTHUMG00000037958 uc009xfn.2 AK126782 NM_001004342 "CCDS73048|CCDS44333|CCDS91173" Q6ZTA4 MGI:3045323 RGD:1560667 610584 HGNC:31859 "ENST00000366653.6|NM_001004342.5" +HGNC:29005 TRIM66 tripartite motif containing 66 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA0298|TIF1D" C11orf29 "chromosome 11 open reading frame 29|tripartite motif-containing 66" "Tripartite motif family|PHD finger proteins|Bromodomain containing" "59|88|1232" 2004-11-19 2011-01-25 2023-03-15 9866 ENSG00000166436 OTTHUMG00000150481 uc057ysc.1 AB002296 NM_014818 "CCDS91433|CCDS91432" O15016 9205841 MGI:2152406 RGD:1595847 612000 objectId:2783 HGNC:29005 "ENST00000646038.2|NM_001388022.1" +HGNC:31859 TRIM67 tripartite motif containing 67 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 TNL tripartite motif-containing 67 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 2004-11-19 2011-01-25 2023-01-20 440730 ENSG00000119283 OTTHUMG00000037958 uc009xfn.2 AK126782 NM_001004342 "CCDS44333|CCDS91173|CCDS73048" Q6ZTA4 MGI:3045323 RGD:1560667 610584 HGNC:31859 "ENST00000366653.6|NM_001004342.5" HGNC:41282 TRIM67-AS1 TRIM67 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Antisense RNAs 1987 2020-04-01 2023-03-15 149373 ENSG00000235710 OTTHUMG00000037959 NR_166514 HGNC:21161 TRIM68 tripartite motif containing 68 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "SS-56|FLJ10369" RNF137 "ring finger protein 137|tripartite motif-containing 68" "Ring finger proteins|Tripartite motif family" "58|59" 2003-05-21 2004-11-17 2011-01-25 2023-01-20 55128 ENSG00000167333 OTTHUMG00000165723 uc001lzf.2 AF360739 NM_018073 CCDS31356 Q6AZZ1 11597395 MGI:2142077 RGD:1593867 613184 HGNC:21161 "ENST00000300747.10|NM_018073.8" HGNC:17857 TRIM69 tripartite motif containing 69 protein-coding gene gene with protein product Approved 15q15-q21 15q15-q21 "Trif|TRIMLESS" RNF36 "ring finger protein 36|tripartite motif-containing 69" "Ring finger proteins|Tripartite motif family" "58|59" 2002-01-10 2006-09-26 2011-01-25 2023-01-20 140691 ENSG00000185880 OTTHUMG00000131246 uc001zuf.3 AF302088 NM_001301144 Q86WT6 MGI:1918178 RGD:1305074 616017 HGNC:17857 "ENST00000329464.9|NM_182985.5" @@ -40299,13 +40302,13 @@ HGNC:12303 TRIO trio Rho guanine nucleotide exchange factor protein-coding gene HGNC:17009 TRIOBP TRIO and F-actin binding protein protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "HRIHFB2122|KIAA1662|Tara|TAP68" DFNB28 Pleckstrin homology domain containing 682 2005-10-04 2023-01-20 11078 ENSG00000100106 OTTHUMG00000150657 uc003atv.4 AB051449 NM_001039141 "CCDS43016|CCDS43015|CCDS33644" Q9H2D6 "11148140|16385457|16385458" MGI:1349410 RGD:1308485 609761 159213 HGNC:17009 "ENST00000644935.1|NM_001039141.3" HGNC:17009 HGNC:12310 TRIP4 thyroid hormone receptor interactor 4 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "HsT17391|ZC2HC5|ASC-1" "zinc finger, C2HC5-type|Activating Signal Cointegrator-1" "Zinc fingers|Activating signal cointegrator 1 complex" "26|1916" 1999-03-19 2023-01-20 9325 ENSG00000103671 OTTHUMG00000133033 uc002anm.3 L40371 NM_016213 CCDS10194 Q15650 "7776974|12077347" MGI:1928469 RGD:1306838 604501 471264 HGNC:12310 "ENST00000261884.8|NM_016213.5" HGNC:12310 HGNC:12311 TRIP6 thyroid hormone receptor interactor 6 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "ZRP-1|OIP1|MGC10556|MGC10558|MGC29959|MGC3837|MGC4423" "Zyxin family|MicroRNA protein coding host genes" "1402|1691" 1997-10-16 2023-01-20 7205 ENSG00000087077 OTTHUMG00000157029 uc003uww.4 "L40374|AF000974" NM_003302 CCDS5708 Q15654 "9598321|7776974" MGI:1343458 RGD:1583180 602933 HGNC:12311 "ENST00000200457.9|NM_003302.3" -HGNC:12304 TRIP10 thyroid hormone receptor interactor 10 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "STP|HSTP|CIP4" Cdc42-interacting protein STOT salt tolerator "Minor histocompatibility antigens|F-BAR domain containing " "870|1288" 1999-06-14 2023-01-20 9322 ENSG00000125733 OTTHUMG00000150255 uc002mfr.5 AB072596 NM_001288962 "CCDS74271|CCDS12172|CCDS74272" Q15642 "7776974|9210375|11294612" MGI:2146901 RGD:621145 604504 HGNC:12304 "ENST00000313244.14|NM_001288962.2" +HGNC:12304 TRIP10 thyroid hormone receptor interactor 10 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "STP|HSTP|CIP4" Cdc42-interacting protein STOT salt tolerator "Minor histocompatibility antigens|F-BAR domain containing " "870|1288" 1999-06-14 2023-01-20 9322 ENSG00000125733 OTTHUMG00000150255 uc002mfr.5 AB072596 NM_001288962 "CCDS12172|CCDS74272|CCDS74271" Q15642 "7776974|9210375|11294612" MGI:2146901 RGD:621145 604504 HGNC:12304 "ENST00000313244.14|NM_001288962.2" HGNC:12305 TRIP11 thyroid hormone receptor interactor 11 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "CEV14|Trip230|GMAP-210|GMAP210" golgi-microtubule-associated-protein of 210 kDa Golgins 1084 1999-03-19 2023-01-20 9321 ENSG00000100815 OTTHUMG00000171128 uc001xzy.4 L40380 NM_001321851 CCDS9899 Q15643 "7776974|9373237" MGI:1924393 RGD:1586166 TRIP11 604505 225372 HGNC:12305 "ENST00000267622.8|NM_004239.4" HGNC:12305 -HGNC:12306 TRIP12 thyroid hormone receptor interactor 12 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "KIAA0045|ULF|TRIPC" E3 ubiquitin-protein ligase for Arf "Armadillo like helical domain containing|HECT domain containing" "1492|1959" 1999-03-19 2023-01-20 9320 ENSG00000153827 OTTHUMG00000153623 uc002vpw.3 L40383 NM_004238 "CCDS92964|CCDS92961|CCDS92966|CCDS92965|CCDS33391|CCDS92963|CCDS92962|CCDS63145|CCDS63146" Q14669 "7776974|27800609|28251352" MGI:1309481 RGD:1306607 604506 471262 HGNC:12306 "ENST00000675903.1|NM_001348323.3" HGNC:12306 +HGNC:12306 TRIP12 thyroid hormone receptor interactor 12 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "KIAA0045|ULF|TRIPC" E3 ubiquitin-protein ligase for Arf "Armadillo like helical domain containing|HECT domain containing" "1492|1959" 1999-03-19 2023-01-20 9320 ENSG00000153827 OTTHUMG00000153623 uc002vpw.3 L40383 NM_004238 "CCDS63145|CCDS92961|CCDS92965|CCDS63146|CCDS33391|CCDS92962|CCDS92964|CCDS92963|CCDS92966" Q14669 "7776974|27800609|28251352" MGI:1309481 RGD:1306607 604506 471262 HGNC:12306 "ENST00000675903.1|NM_001348323.3" HGNC:12306 HGNC:12307 TRIP13 thyroid hormone receptor interactor 13 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 16E1BP thyroid receptor interacting protein 13 AAA ATPases 413 2000-01-04 2023-01-20 9319 ENSG00000071539 OTTHUMG00000090349 uc003jbr.4 L40384 NM_004237 CCDS3858 Q15645 7776974 MGI:1916966 RGD:1308516 604507 HGNC:12307 "ENST00000166345.8|NM_004237.4" HGNC:12307 HGNC:27828 TRIQK triple QxxK/R motif containing protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "DKFZp779L1068|PRO0845|LOC286144" C8orf83 chromosome 8 open reading frame 83 2008-08-12 2012-04-18 2012-04-18 2023-01-20 286144 ENSG00000205133 OTTHUMG00000164162 uc064omt.1 "AK096398|BC110326|BC031029|BC065838" NM_001171795 CCDS55261 Q629K1 18828657 MGI:3650048 RGD:1561260 HGNC:27828 "ENST00000521988.6|NM_001171797.2" -HGNC:28424 TRIR telomerase RNA component interacting RNase protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "MGC2803|fSAP18|TERCIR" functional spliceosome-associated protein 18 C19orf43 chromosome 19 open reading frame 43 2006-04-04 2017-05-23 2017-05-23 2023-01-20 79002 ENSG00000123144 OTTHUMG00000180347 uc002muu.4 AK027588 NM_024038 "CCDS86709|CCDS86710|CCDS12279" Q9BQ61 28322335 MGI:1922833 RGD:1564093 HGNC:28424 "ENST00000242784.5|NM_024038.4" -HGNC:20286 TRIT1 tRNA isopentenyltransferase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FLJ20061|IPT" "IPP transferase|tRNA dimethylallyltransferase" Zinc fingers matrin-type 84 2004-01-15 2023-01-20 54802 ENSG00000043514 OTTHUMG00000009245 uc057fcv.1 AF074918 NM_017646 "CCDS81302|CCDS81303|CCDS30681" Q9H3H1 "11111046|15870694" MGI:1914216 RGD:1304781 617840 471266 2.5.1.75 HGNC:20286 "ENST00000316891.10|NM_017646.6" HGNC:20286 +HGNC:28424 TRIR telomerase RNA component interacting RNase protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "MGC2803|fSAP18|TERCIR" functional spliceosome-associated protein 18 C19orf43 chromosome 19 open reading frame 43 2006-04-04 2017-05-23 2017-05-23 2023-01-20 79002 ENSG00000123144 OTTHUMG00000180347 uc002muu.4 AK027588 NM_024038 "CCDS12279|CCDS86710|CCDS86709" Q9BQ61 28322335 MGI:1922833 RGD:1564093 HGNC:28424 "ENST00000242784.5|NM_024038.4" +HGNC:20286 TRIT1 tRNA isopentenyltransferase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FLJ20061|IPT" "IPP transferase|tRNA dimethylallyltransferase" Zinc fingers matrin-type 84 2004-01-15 2023-01-20 54802 ENSG00000043514 OTTHUMG00000009245 uc057fcv.1 AF074918 NM_017646 "CCDS81302|CCDS30681|CCDS81303" Q9H3H1 "11111046|15870694" MGI:1914216 RGD:1304781 617840 471266 2.5.1.75 HGNC:20286 "ENST00000316891.10|NM_017646.6" HGNC:20286 HGNC:34668 TRK-CTT1-1 tRNA-Lys (anticodon CTT) 1-1 non-coding RNA RNA, transfer Approved 14q23.1 14q23.1 tRNA-Lys-CTT-1-1 TRNAK13 "transfer RNA lysine 13 (anticodon CUU)|transfer RNA-Lys (CTT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189107 HG983908 tRNA-Lys-CTT-1-1 HGNC:34668 HGNC:34572 TRK-CTT1-2 tRNA-Lys (anticodon CTT) 1-2 non-coding RNA RNA, transfer Approved 15q25.1 15q25.1 tRNA-Lys-CTT-1-2 TRNAK6 "transfer RNA lysine 6 (anticodon CUU)|transfer RNA-Lys (CTT) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189013 HG983909 tRNA-Lys-CTT-1-2 HGNC:34572 HGNC:34761 TRK-CTT2-1 tRNA-Lys (anticodon CTT) 2-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Lys-CTT-2-1 TRNAK20 "transfer RNA lysine 20 (anticodon CUU)|transfer RNA-Lys (CTT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189198 HG983910 tRNA-Lys-CTT-2-1 HGNC:34761 @@ -40399,18 +40402,18 @@ HGNC:34869 TRM-CAT5-1 tRNA-Met (anticodon CAT) 5-1 non-coding RNA RNA, transfer HGNC:54713 TRM-CAT5-2 tRNA-Met (anticodon CAT) 5-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Met-CAT-5-2 Cytoplasmic transfer RNAs 842 2019-12-06 2020-02-13 107986680 HGNC:34789 TRM-CAT6-1 tRNA-Met (anticodon CAT) 6-1 non-coding RNA RNA, transfer Approved 16q24.2 16q24.2 tRNA-Met-CAT-6-1 TRNAM13 "transfer RNA methionine 13 (anticodon CAU)|transfer RNA-Met (CAT) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189226 HG983958 tRNA-Met-CAT-6-1 HGNC:34789 HGNC:34645 TRM-CAT7-1 tRNA-Met (anticodon CAT) 7-1 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Met-CAT-7-1 TRNAM5 "transfer RNA methionine 5 (anticodon CAU)|transfer RNA-Met (CAT) 7-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189085 HG983959 tRNA-Met-CAT-7-1 HGNC:34645 -HGNC:30967 TRMO tRNA methyltransferase O protein-coding gene gene with protein product Approved 9q22.33 09q22.33 HSPC219 C9orf156 chromosome 9 open reading frame 156 Methyltransferase families 1398 2004-05-17 2015-10-16 2015-10-16 2023-01-20 51531 ENSG00000136932 OTTHUMG00000021007 AK023069 NM_016481 "CCDS6730|CCDS83387" Q9BU70 25063302 MGI:1922003 RGD:1305420 HGNC:30967 "ENST00000375119.8|NM_016481.5" +HGNC:30967 TRMO tRNA methyltransferase O protein-coding gene gene with protein product Approved 9q22.33 09q22.33 HSPC219 C9orf156 chromosome 9 open reading frame 156 Methyltransferase families 1398 2004-05-17 2015-10-16 2015-10-16 2023-01-20 51531 ENSG00000136932 OTTHUMG00000021007 AK023069 NM_016481 "CCDS83387|CCDS6730" Q9BU70 25063302 MGI:1922003 RGD:1305420 HGNC:30967 "ENST00000375119.8|NM_016481.5" HGNC:25980 TRMT1 tRNA methyltransferase 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "FLJ20244|TRM1" tRNA methyltransferase 1 homolog (S. cerevisiae) 7BS DNA/RNA methyltransferases 2059 2005-08-11 2015-09-25 2023-01-20 55621 ENSG00000104907 OTTHUMG00000180730 uc060ugy.1 AF196479 NM_017722 "CCDS45997|CCDS12293" Q9NXH9 10982862 MGI:1289155 RGD:1305992 611669 2.1.1.216 HGNC:25980 "ENST00000357720.9|NM_001136035.4" HGNC:25980 HGNC:16782 TRMT1L tRNA methyltransferase 1 like protein-coding gene gene with protein product Approved 1q25.3 01q25.3 TRM1-like C1orf25 "chromosome 1 open reading frame 25|TRM1 tRNA methyltransferase 1-like|tRNA methyltransferase 1 homolog (S. cerevisiae)-like|tRNA methyltransferase 1-like" 7BS DNA/RNA methyltransferases 2059 2001-10-05 2011-01-24 2015-11-11 2023-01-20 81627 ENSG00000121486 OTTHUMG00000035389 uc001grf.5 AF288399 NM_030934 CCDS1366 Q7Z2T5 "11318611|17198746" MGI:1916185 RGD:1307890 611673 HGNC:16782 "ENST00000367506.10|NM_030934.5" HGNC:55145 TRMT1P1 TRMT1 pseudogene 1 pseudogene pseudogene Approved Xq27.3 Xq27.3 2020-07-15 2020-07-15 347422 ENSG00000231093 NG_022710 -HGNC:24974 TRMT2A tRNA methyltransferase 2 homolog A protein-coding gene gene with protein product Approved 22q11.21 22q11.21 HTF9C HpaII tiny fragments locus 9C tRNA methyltransferase 2 homolog A (S. cerevisiae) "MicroRNA protein coding host genes|7BS DNA/RNA methyltransferases" "1691|2059" 2008-09-17 2015-09-25 2023-01-20 27037 ENSG00000099899 OTTHUMG00000150454 uc002zrk.3 BC017184 NM_022727 "CCDS13774|CCDS82693|CCDS58793" Q8IZ69 "9417108|18075473|30502085" MGI:96270 RGD:1310418 611151 HGNC:24974 "ENST00000252136.12|NM_022727.6" +HGNC:24974 TRMT2A tRNA methyltransferase 2 homolog A protein-coding gene gene with protein product Approved 22q11.21 22q11.21 HTF9C HpaII tiny fragments locus 9C tRNA methyltransferase 2 homolog A (S. cerevisiae) "MicroRNA protein coding host genes|7BS DNA/RNA methyltransferases" "1691|2059" 2008-09-17 2015-09-25 2023-01-20 27037 ENSG00000099899 OTTHUMG00000150454 uc002zrk.3 BC017184 NM_022727 "CCDS58793|CCDS82693|CCDS13774" Q8IZ69 "9417108|18075473|30502085" MGI:96270 RGD:1310418 611151 HGNC:24974 "ENST00000252136.12|NM_022727.6" HGNC:25748 TRMT2B tRNA methyltransferase 2 homolog B protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 FLJ12687 CXorf34 "chromosome X open reading frame 34|tRNA methyltransferase 2 homolog B (S. cerevisiae)" 7BS DNA/RNA methyltransferases 2059 2004-08-16 2008-09-17 2015-09-25 2023-01-20 79979 ENSG00000188917 OTTHUMG00000022017 uc004egq.4 BC020116 NM_024917 "CCDS14477|CCDS55464" Q96GJ1 14702039 MGI:2442530 RGD:1565132 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TRMT2B HGNC:25748 "ENST00000372936.4|NM_024917.6" HGNC:41116 TRMT2B-AS1 TRMT2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.1 Xq22.1 TRMT2B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 106481789 ENSG00000225839 OTTHUMG00000022015 uc065age.1 TRMT2B-AS1 HGNC:23141 TRMT5 tRNA methyltransferase 5 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 TRM5 tRNA (guanine(37)-N1)-methyltransferase KIAA1393 "KIAA1393|tRNA methyltransferase 5 homolog (S. cerevisiae)" 7BS DNA/RNA methyltransferases 2059 2003-11-20 2005-08-11 2013-06-05 2023-01-20 57570 ENSG00000126814 OTTHUMG00000171294 uc001xff.5 AB037814 NM_020810 CCDS32092 Q32P41 15248782 MGI:1923607 RGD:1306567 611023 2.1.1.228 HGNC:23141 "ENST00000261249.7|NM_020810.3" HGNC:23141 -HGNC:20900 TRMT6 tRNA methyltransferase 6 non-catalytic subunit protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "GCD10|MGC5029|Gcd10p|CGI-09" "tRNA methyltransferase 6 homolog (S. cerevisiae)|tRNA methyltransferase 6" 2007-07-31 2021-05-13 2023-01-20 51605 ENSG00000089195 OTTHUMG00000031816 uc002wmh.3 AK000613 NM_001281467 "CCDS13093|CCDS63225" Q9UJA5 16043508 MGI:1914176 RGD:1308877 HGNC:20900 "ENST00000203001.7|NM_015939.5" +HGNC:20900 TRMT6 tRNA methyltransferase 6 non-catalytic subunit protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "GCD10|MGC5029|Gcd10p|CGI-09" "tRNA methyltransferase 6 homolog (S. cerevisiae)|tRNA methyltransferase 6" 2007-07-31 2021-05-13 2023-01-20 51605 ENSG00000089195 OTTHUMG00000031816 uc002wmh.3 AK000613 NM_001281467 "CCDS63225|CCDS13093" Q9UJA5 16043508 MGI:1914176 RGD:1308877 HGNC:20900 "ENST00000203001.7|NM_015939.5" HGNC:26725 TRMT9B tRNA methyltransferase 9B (putative) protein-coding gene gene with protein product Approved 8p22 08p22 "FLJ36980|TRM9L|hTRM9L" "C8orf79|KIAA1456" "chromosome 8 open reading frame 79|KIAA1456" 7BS DNA/RNA methyltransferases 2059 2006-02-14 2017-12-15 2017-12-15 2023-01-20 57604 ENSG00000250305 OTTHUMG00000165477 uc010lsq.4 BC035082 NM_001099677 CCDS47808 Q9P272 23381944 MGI:2442328 RGD:1304810 615666 HGNC:26725 "ENST00000524591.7|NM_020844.3" HGNC:28403 TRMT10A tRNA methyltransferase 10A protein-coding gene gene with protein product Approved 4q23 04q23 "MGC27034|TRM10" RG9MTD2 "RNA (guanine-9-) methyltransferase domain containing 2|tRNA methyltransferase 10 homolog A (S. cerevisiae)" SPOUT methyltransferase domain containing 1294 2004-03-04 2012-06-28 2015-09-25 2023-01-20 93587 ENSG00000145331 OTTHUMG00000131025 uc003hva.5 BC028373 NM_152292 CCDS3650 Q8TBZ6 "24204302|23042678|32392304" MGI:1920421 RGD:1594565 616013 394606 HGNC:28403 "ENST00000394876.7|NM_001134665.3" HGNC:28403 -HGNC:26454 TRMT10B tRNA methyltransferase 10B protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "FLJ31455|bA3J10.9" RG9MTD3 "RNA (guanine-9-) methyltransferase domain containing 3|tRNA methyltransferase 10 homolog B (S. cerevisiae)" SPOUT methyltransferase domain containing 1294 2004-03-04 2012-06-28 2015-09-25 2023-01-20 158234 ENSG00000165275 OTTHUMG00000019933 uc004aai.5 BC057774 NM_144964 "CCDS69601|CCDS69600|CCDS69598|CCDS43804" Q6PF06 "14702039|23042678|32392304" MGI:1917184 RGD:1310735 HGNC:26454 "ENST00000297994.4|NM_144964.4" +HGNC:26454 TRMT10B tRNA methyltransferase 10B protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "FLJ31455|bA3J10.9" RG9MTD3 "RNA (guanine-9-) methyltransferase domain containing 3|tRNA methyltransferase 10 homolog B (S. cerevisiae)" SPOUT methyltransferase domain containing 1294 2004-03-04 2012-06-28 2015-09-25 2023-01-20 158234 ENSG00000165275 OTTHUMG00000019933 uc004aai.5 BC057774 NM_144964 "CCDS43804|CCDS69600|CCDS69601|CCDS69598" Q6PF06 "14702039|23042678|32392304" MGI:1917184 RGD:1310735 HGNC:26454 "ENST00000297994.4|NM_144964.4" HGNC:52409 TRMT10BP1 tRNA methyltransferase 10B pseudogene 1 pseudogene pseudogene Approved 8q23.1 08q23.1 2016-11-01 2020-01-22 ENSG00000253580 OTTHUMG00000164882 PGOHUM00000303657 HGNC:26022 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "FLJ20432|MRPP1" mitochondrial RNase P subunit 1 RG9MTD1 "RNA (guanine-9-) methyltransferase domain containing 1|tRNA methyltransferase 10 homolog C (S. cerevisiae)" "SPOUT methyltransferase domain containing|Mitochondrial RNase P complex" "1294|1534" 2004-03-04 2012-06-28 2015-09-25 2023-01-20 54931 ENSG00000174173 OTTHUMG00000159114 uc003duz.5 AK000439 NM_017819 CCDS43122 Q7L0Y3 18984158 MGI:1196261 RGD:1306333 615423 HGNC:26022 "ENST00000309922.7|NM_017819.4" HGNC:26022 HGNC:21080 TRMT11 tRNA methyltransferase 11 homolog protein-coding gene gene with protein product Approved 6q22.32 06q22.32 "MDS024|dJ187J11.2|TRM11|TRMT11-1" C6orf75 "chromosome 6 open reading frame 75|tRNA methyltransferase 11 homolog (S. cerevisiae)" 7BS DNA/RNA methyltransferases 2059 2003-11-26 2006-11-28 2015-10-02 2023-03-15 60487 ENSG00000066651 OTTHUMG00000015515 uc003qam.4 AF182423 NM_021820 CCDS35496 Q7Z4G4 MGI:1920931 RGD:727798 HGNC:21080 "ENST00000334379.11|NM_001031712.3" @@ -40428,7 +40431,7 @@ HGNC:44023 TRMT112P4 tRNA methyltransferase subunit 11-2 pseudogene 4 pseudogene HGNC:44024 TRMT112P5 tRNA methyltransferase subunit 11-2 pseudogene 5 pseudogene pseudogene Approved 3q23 03q23 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 5 2012-05-28 2017-05-26 2017-05-26 106480784 ENSG00000250161 OTTHUMG00000159950 NG_044040 PGOHUM00000299198 HGNC:44024 HGNC:44025 TRMT112P6 tRNA methyltransferase subunit 11-2 pseudogene 6 pseudogene pseudogene Approved 2p23.3 02p23.3 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 6 2012-05-28 2017-05-26 2017-05-26 391358 ENSG00000268412 OTTHUMG00000187085 NG_027521 HGNC:44025 HGNC:44026 TRMT112P7 tRNA methyltransferase subunit 11-2 pseudogene 7 pseudogene pseudogene Approved 8q11.23 08q11.23 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 7 2012-05-28 2017-05-26 2017-05-26 100287567 ENSG00000270275 OTTHUMG00000184845 NG_027525 PGOHUM00000249345 HGNC:44026 -HGNC:25481 TRMU tRNA mitochondrial 2-thiouridylase protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "FLJ10140|MTO2|MTU1" mitochondrial tRNA-specific 2-thiouridylase 1 TRMT "tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase|tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase" 2004-03-08 2005-08-11 2020-07-23 2023-01-20 55687 ENSG00000100416 OTTHUMG00000150424 uc003bhp.4 AY062123 NM_018006 "CCDS63510|CCDS14075" O75648 "14746906|15509579" MGI:1919276 RGD:1311229 610230 120293 2.8.1.14 HGNC:25481 "ENST00000645190.1|NM_018006.5" HGNC:25481 +HGNC:25481 TRMU tRNA mitochondrial 2-thiouridylase protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "FLJ10140|MTO2|MTU1" mitochondrial tRNA-specific 2-thiouridylase 1 TRMT "tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase|tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase" 2004-03-08 2005-08-11 2020-07-23 2023-01-20 55687 ENSG00000100416 OTTHUMG00000150424 uc003bhp.4 AY062123 NM_018006 "CCDS14075|CCDS63510" O75648 "14746906|15509579" MGI:1919276 RGD:1311229 610230 120293 2.8.1.14 HGNC:25481 "ENST00000645190.1|NM_018006.5" HGNC:25481 HGNC:34887 TRN-ATT1-1 tRNA-Asn (ATT) 1-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-ATT-1-1 TRNAN26 "transfer RNA asparagine 26 (anticodon AUU)|transfer RNA-Asn (ATT) 1-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-21 2018-11-21 100189320 HG983627 tRNA-Asn-ATT-1-1 HGNC:50812 TRN-ATT1-2 tRNA-Asn (ATT) 1-2 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-ATT-1-2 transfer RNA-Asn (ATT) 1-2 Low confidence cytoplasmic transfer RNAs 1877 2014-07-07 2018-11-21 2018-11-21 103581030 HG983628 tRNA-Asn-ATT-1-2 HGNC:34688 TRN-GTT1-1 tRNA-Asn (anticodon GTT) 1-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asn-GTT-1-1 TRNAN14 "transfer RNA asparagine 14 (anticodon GUU)|transfer RNA-Asn (GTT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189126 HG983629 tRNA-Asn-GTT-1-1 HGNC:34688 @@ -40476,11 +40479,11 @@ HGNC:54718 TRN-GTT26-1 tRNA-Asn (anticodon GTT) 26-1 non-coding RNA RNA, transfe HGNC:54719 TRN-GTT27-1 tRNA-Asn (anticodon GTT) 27-1 non-coding RNA RNA, transfer Approved 1p11.2 01p11.2 tRNA-Asn-GTT-27-1 Cytoplasmic transfer RNAs 842 2019-12-06 2019-12-06 107985750 HGNC:30813 TRNAU1AP tRNA selenocysteine 1 associated protein 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "SECP43|FLJ20503" TRSPAP1 tRNA selenocysteine associated protein 1 RNA binding motif containing 725 2005-11-28 2008-09-05 2008-09-05 2023-01-20 54952 ENSG00000180098 OTTHUMG00000003653 uc001bqi.4 NM_017846 CCDS324 Q9NX07 "10606267|16230358" MGI:1919037 RGD:619995 619597 HGNC:30813 "ENST00000373830.4|NM_017846.5" HGNC:34348 TRNP1 TMF1 regulated nuclear protein 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 TRNP C1orf225 chromosome 1 open reading frame 225 2008-09-16 2009-02-19 2019-02-14 2023-01-20 388610 ENSG00000253368 OTTHUMG00000004277 uc001bnj.5 "AI366714|AL356390|BC069216|CH471059" NM_001013642 CCDS41289 Q6NT89 "23622239|16792503" MGI:1916789 RGD:1582917 616824 HGNC:34348 "ENST00000522111.3|NM_001013642.3" -HGNC:17341 TRNT1 tRNA nucleotidyl transferase 1 protein-coding gene gene with protein product Approved 3p26.2 03p26.2 "MtCCA|CGI-47|CCA1" "ATP(CTP):tRNA nucleotidyltransferase|CCA-adding enzyme" "tRNA nucleotidyl transferase, CCA-adding, 1|tRNA CCA nucleotidyl transferase 1" 2002-05-30 2016-05-16 2023-01-20 51095 ENSG00000072756 OTTHUMG00000090259 uc003bpp.5 AF151805 NM_001302946 "CCDS77691|CCDS2561" Q96Q11 "10810093|11504732" MGI:1917297 RGD:1308857 LRG_1314|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1314.xml 612907 413615 2.7.7.72 HGNC:17341 "ENST00000251607.11|NM_182916.3" HGNC:17341 +HGNC:17341 TRNT1 tRNA nucleotidyl transferase 1 protein-coding gene gene with protein product Approved 3p26.2 03p26.2 "MtCCA|CGI-47|CCA1" "ATP(CTP):tRNA nucleotidyltransferase|CCA-adding enzyme" "tRNA nucleotidyl transferase, CCA-adding, 1|tRNA CCA nucleotidyl transferase 1" 2002-05-30 2016-05-16 2023-01-20 51095 ENSG00000072756 OTTHUMG00000090259 uc003bpp.5 AF151805 NM_001302946 "CCDS2561|CCDS77691" Q96Q11 "10810093|11504732" MGI:1917297 RGD:1308857 LRG_1314|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1314.xml 612907 413615 2.7.7.72 HGNC:17341 "ENST00000251607.11|NM_182916.3" HGNC:17341 HGNC:56781 TRNT1P1 TRNT1 pseudogene 1 pseudogene pseudogene Approved 1q23.3 01q23.3 2023-04-18 2023-04-18 100113374 ENSG00000225755 NG_027731 PGOHUM00000296622 HGNC:56782 TRNT1P2 TRNT1 pseudogene 2 pseudogene pseudogene Approved 22q13.31 22q13.31 2023-04-18 2023-04-18 100113375 ENSG00000235347 NG_016212 PGOHUM00000297556 -HGNC:12326 TRO trophinin protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "MAGE-D3|KIAA1114|MAGED3" "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 1997-10-30 2023-03-15 7216 ENSG00000067445 OTTHUMG00000021640 uc004dtq.6 U04811 NM_016157 "CCDS59527|CCDS59528|CCDS59529|CCDS43959|CCDS43958" Q12816 "9533028|11454705" MGI:1928994 RGD:6488256 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TRO 300132 HGNC:12326 "ENST00000173898.12|NM_001039705.3" -HGNC:12327 TROAP trophinin associated protein protein-coding gene gene with protein product Approved 12q13.12 12q13.12 TASTIN tastin 2000-04-13 2012-10-17 2023-01-20 10024 ENSG00000135451 OTTHUMG00000169486 uc001rtx.5 U04810 NM_005480 "CCDS61117|CCDS8784|CCDS91693|CCDS41779" Q12815 7758945 MGI:1925983 RGD:1306870 603872 HGNC:12327 "ENST00000257909.8|NM_005480.4" +HGNC:12326 TRO trophinin protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "MAGE-D3|KIAA1114|MAGED3" "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 1997-10-30 2023-03-15 7216 ENSG00000067445 OTTHUMG00000021640 uc004dtq.6 U04811 NM_016157 "CCDS59529|CCDS43958|CCDS59527|CCDS43959|CCDS59528" Q12816 "9533028|11454705" MGI:1928994 RGD:6488256 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TRO 300132 HGNC:12326 "ENST00000173898.12|NM_001039705.3" +HGNC:12327 TROAP trophinin associated protein protein-coding gene gene with protein product Approved 12q13.12 12q13.12 TASTIN tastin 2000-04-13 2012-10-17 2023-01-20 10024 ENSG00000135451 OTTHUMG00000169486 uc001rtx.5 U04810 NM_005480 "CCDS61117|CCDS8784|CCDS41779|CCDS91693" Q12815 7758945 MGI:1925983 RGD:1306870 603872 HGNC:12327 "ENST00000257909.8|NM_005480.4" HGNC:55453 TROAP-AS1 TROAP and PRPH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 Antisense RNAs 1987 2021-01-20 2021-01-20 2021-01-20 101927267 ENSG00000258334 NR_120449 HGNC:34579 TRP-AGG1-1 tRNA-Pro (anticodon AGG) 1-1 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Pro-AGG-1-1 TRNAP5 "transfer RNA proline 5 (anticodon AGG)|transfer RNA-Pro (AGG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189020 HG983977 tRNA-Pro-AGG-1-1 HGNC:34579 HGNC:34578 TRP-AGG2-1 tRNA-Pro (anticodon AGG) 2-1 non-coding RNA RNA, transfer Approved 1q24.2 01q24.2 tRNA-Pro-AGG-2-1 TRNAP4 "transfer RNA proline 4 (anticodon AGG)|transfer RNA-Pro (AGG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189019 HG983978 tRNA-Pro-AGG-2-1 HGNC:34578 @@ -40513,8 +40516,8 @@ HGNC:497 TRPA1 transient receptor potential cation channel subfamily A member 1 HGNC:12333 TRPC1 transient receptor potential cation channel subfamily C member 1 protein-coding gene gene with protein product Approved 3q23 03q23 HTRP-1 transient receptor potential cation channel, subfamily C, member 1 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 1995-09-01 2016-01-28 2023-01-20 7220 ENSG00000144935 OTTHUMG00000159301 uc003evb.4 X89066 NM_003304 "CCDS58856|CCDS3126" P48995 "7568191|16382100" MGI:109528 RGD:619783 602343 objectId:486 HGNC:12333 "ENST00000476941.6|NM_001251845.2" HGNC:12334 TRPC2 transient receptor potential cation channel subfamily C member 2 (pseudogene) pseudogene pseudogene Approved 11p15.4 11p15.4 "transient receptor potential cation channel, subfamily C, member 2|transient receptor potential cation channel, subfamily C, member 2, pseudogene" Transient receptor potential cation channels 249 1995-09-01 2018-01-12 2018-01-12 7221 ENSG00000182048 OTTHUMG00000011712 X89067 NR_002720 "7568191|16382100|17217050" MGI:109527 RGD:628819 objectId:487 HGNC:12334 HGNC:12335 TRPC3 transient receptor potential cation channel subfamily C member 3 protein-coding gene gene with protein product Approved 4q27 04q27 transient receptor potential cation channel, subfamily C, member 3 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 1995-09-01 2016-01-28 2023-01-20 7222 ENSG00000138741 OTTHUMG00000133069 uc003ief.3 Y13758 NM_003305 "CCDS3725|CCDS47130" Q13507 "8646775|16382100" MGI:109526 RGD:61973 602345 460869 objectId:488 HGNC:12335 "ENST00000379645.8|NM_001130698.2" HGNC:12335 -HGNC:12336 TRPC4 transient receptor potential cation channel subfamily C member 4 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "HTRP4|TRP4" transient receptor potential cation channel, subfamily C, member 4 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 1996-03-12 2016-01-28 2023-01-20 7223 ENSG00000133107 OTTHUMG00000016752 uc001uws.4 U40983 NM_003306 "CCDS45038|CCDS45036|CCDS45035|CCDS45039|CCDS9365|CCDS45037" Q9UBN4 "8646775|16382100" MGI:109525 RGD:621276 603651 objectId:489 HGNC:12336 "ENST00000379705.8|NM_016179.4" -HGNC:16181 TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "DKFZP727M231|DKFZp586C1223|dJ756N5.2|TRRP4AP|PPP1R158" protein phosphatase 1, regulatory subunit 158 C20orf188 "chromosome 20 open reading frame 188|transient receptor potential cation channel, subfamily C, member 4 associated protein" "Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing" "694|1492" 2001-07-17 2003-10-08 2016-01-28 2023-01-20 26133 ENSG00000100991 OTTHUMG00000032319 uc002xbk.4 AF055022 NM_015638 "CCDS46591|CCDS13246" Q8TEL6 MGI:1930751 RGD:1309914 608430 HGNC:16181 "ENST00000252015.3|NM_015638.3" HGNC:16181 +HGNC:12336 TRPC4 transient receptor potential cation channel subfamily C member 4 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "HTRP4|TRP4" transient receptor potential cation channel, subfamily C, member 4 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 1996-03-12 2016-01-28 2023-01-20 7223 ENSG00000133107 OTTHUMG00000016752 uc001uws.4 U40983 NM_003306 "CCDS45037|CCDS45039|CCDS45035|CCDS45038|CCDS9365|CCDS45036" Q9UBN4 "8646775|16382100" MGI:109525 RGD:621276 603651 objectId:489 HGNC:12336 "ENST00000379705.8|NM_016179.4" +HGNC:16181 TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "DKFZP727M231|DKFZp586C1223|dJ756N5.2|TRRP4AP|PPP1R158" protein phosphatase 1, regulatory subunit 158 C20orf188 "chromosome 20 open reading frame 188|transient receptor potential cation channel, subfamily C, member 4 associated protein" "Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing" "694|1492" 2001-07-17 2003-10-08 2016-01-28 2023-01-20 26133 ENSG00000100991 OTTHUMG00000032319 uc002xbk.4 AF055022 NM_015638 "CCDS13246|CCDS46591" Q8TEL6 MGI:1930751 RGD:1309914 608430 HGNC:16181 "ENST00000252015.3|NM_015638.3" HGNC:16181 HGNC:12337 TRPC5 transient receptor potential cation channel subfamily C member 5 protein-coding gene gene with protein product Approved Xq23 Xq23 PPP1R159 protein phosphatase 1, regulatory subunit 159 transient receptor potential cation channel, subfamily C, member 5 "Transient receptor potential cation channels|Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits" "249|403|694" 1996-03-12 2016-01-28 2023-01-20 7224 ENSG00000072315 OTTHUMG00000022212 uc004epl.2 AF054568 NM_012471 CCDS14561 Q9UL62 "10493832|16382100" MGI:109524 RGD:619787 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TRPC5 300334 471268 objectId:490 HGNC:12337 "ENST00000262839.3|NM_012471.3" HGNC:40593 TRPC5OS TRPC5 opposite strand protein-coding gene gene with protein product Approved Xq23 Xq23 TRPC5-AS1 TRPC5 antisense RNA 1 (non-protein coding) 2011-07-29 2012-06-25 2012-06-25 2023-01-20 100329135 ENSG00000204025 OTTHUMG00000022211 uc065atp.1 NM_001195576 CCDS83485 A6NMA1 MGI:3641805 RGD:6503255 HGNC:40593 "ENST00000635763.2|NM_001195578.2" HGNC:12338 TRPC6 transient receptor potential cation channel subfamily C member 6 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 TRP6 FSGS2 "focal segmental glomerulosclerosis 2|transient receptor potential cation channel, subfamily C, member 6" "Transient receptor potential cation channels|Ankyrin repeat domain containing|MicroRNA protein coding host genes" "249|403|1691" 1998-08-05 2016-01-28 2023-01-20 7225 ENSG00000137672 OTTHUMG00000167483 uc001pgk.4 AJ006276 NM_004621 CCDS8311 Q9Y210 "9925922|16382100|15879175" MGI:109523 RGD:619788 603652 120298 objectId:491 HGNC:12338 "ENST00000344327.8|NM_004621.6" HGNC:12338 @@ -40528,25 +40531,25 @@ HGNC:55948 TRPC6P7 TRPC6 pseudogene 7 pseudogene pseudogene Approved 4q35.1 04q3 HGNC:55949 TRPC6P8 TRPC6 pseudogene 8 pseudogene pseudogene Approved 7q33 07q33 2021-11-10 2021-11-10 123464512 ENSG00000236503 NG_084041 PGOHUM00000302439 HGNC:55950 TRPC6P9 TRPC6 pseudogene 9 pseudogene pseudogene Approved 5p14.2 05p14.2 2021-11-10 2021-11-10 123464513 ENSG00000249607 NG_084042 PGOHUM00000300897 HGNC:55951 TRPC6P10 TRPC6 pseudogene 10 pseudogene pseudogene Approved 7p14.3 07p14.3 2021-11-10 2021-11-10 123464518 ENSG00000226874 NG_084043 PGOHUM00000302568 -HGNC:20754 TRPC7 transient receptor potential cation channel subfamily C member 7 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 transient receptor potential cation channel, subfamily C, member 7 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2003-03-31 2016-01-28 2023-01-20 57113 ENSG00000069018 OTTHUMG00000189265 uc003lbn.3 AJ272034 NM_020389 "CCDS54905|CCDS93787|CCDS54906|CCDS47267" Q9HCX4 "11805119|16382100" MGI:1349470 RGD:628820 objectId:492 HGNC:20754 "ENST00000513104.6|NM_020389.3" +HGNC:20754 TRPC7 transient receptor potential cation channel subfamily C member 7 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 transient receptor potential cation channel, subfamily C, member 7 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2003-03-31 2016-01-28 2023-01-20 57113 ENSG00000069018 OTTHUMG00000189265 uc003lbn.3 AJ272034 NM_020389 "CCDS54906|CCDS47267|CCDS93787|CCDS54905" Q9HCX4 "11805119|16382100" MGI:1349470 RGD:628820 objectId:492 HGNC:20754 "ENST00000513104.6|NM_020389.3" HGNC:40936 TRPC7-AS1 TRPC7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 TRPC7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2021-02-05 100874024 ENSG00000248211 OTTHUMG00000162034 uc063hgv.1 NR_046708 TRPC7-AS1 HGNC:40937 TRPC7-AS2 TRPC7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 TRPC7 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2021-02-05 106478968 ENSG00000250947 OTTHUMG00000162036 uc063hgw.1 NR_133682 TRPC7-AS2 HGNC:40937 -HGNC:7146 TRPM1 transient receptor potential cation channel subfamily M member 1 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "LTRPC1|CSNB1C" MLSN1 "melastatin 1|transient receptor potential cation channel, subfamily M, member 1" "Transient receptor potential cation channels|MicroRNA protein coding host genes" "249|1691" 1998-05-26 2002-01-18 2016-01-28 2023-01-20 4308 ENSG00000134160 OTTHUMG00000129267 uc001zfm.4 AF071787 NM_002420 "CCDS10024|CCDS58345|CCDS58347|CCDS58346" Q7Z4N2 "9806836|9537257|16382100" MGI:1330305 RGD:1597140 603576 225280 objectId:493 HGNC:7146 "ENST00000256552.11|NM_001252024.2" HGNC:7146 -HGNC:12339 TRPM2 transient receptor potential cation channel subfamily M member 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KNP3|LTRPC2|NUDT9L1|NUDT9H|EREG1" TRPC7 transient receptor potential cation channel, subfamily M, member 2 "Transient receptor potential cation channels|Nudix hydrolase family" "249|667" 1998-03-23 2002-01-18 2016-01-28 2023-01-20 7226 ENSG00000142185 OTTHUMG00000040840 uc002zet.1 AB001535 NM_003307 "CCDS82681|CCDS13710" O94759 "9806837|11385575|16382100" MGI:1351901 RGD:1311889 603749 objectId:494 HGNC:12339 "ENST00000397928.6|NM_003307.4" +HGNC:7146 TRPM1 transient receptor potential cation channel subfamily M member 1 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "LTRPC1|CSNB1C" MLSN1 "melastatin 1|transient receptor potential cation channel, subfamily M, member 1" "Transient receptor potential cation channels|MicroRNA protein coding host genes" "249|1691" 1998-05-26 2002-01-18 2016-01-28 2023-01-20 4308 ENSG00000134160 OTTHUMG00000129267 uc001zfm.4 AF071787 NM_002420 "CCDS58347|CCDS58345|CCDS10024|CCDS58346" Q7Z4N2 "9806836|9537257|16382100" MGI:1330305 RGD:1597140 603576 225280 objectId:493 HGNC:7146 "ENST00000256552.11|NM_001252024.2" HGNC:7146 +HGNC:12339 TRPM2 transient receptor potential cation channel subfamily M member 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KNP3|LTRPC2|NUDT9L1|NUDT9H|EREG1" TRPC7 transient receptor potential cation channel, subfamily M, member 2 "Transient receptor potential cation channels|Nudix hydrolase family" "249|667" 1998-03-23 2002-01-18 2016-01-28 2023-01-20 7226 ENSG00000142185 OTTHUMG00000040840 uc002zet.1 AB001535 NM_003307 "CCDS13710|CCDS82681" O94759 "9806837|11385575|16382100" MGI:1351901 RGD:1311889 603749 objectId:494 HGNC:12339 "ENST00000397928.6|NM_003307.4" HGNC:50758 TRPM2-AS TRPM2 antisense RNA non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 TRPM2-AS1 Antisense RNAs 1987 2014-06-01 2017-07-14 101928607 ENSG00000230061 OTTHUMG00000040845 AK057275 NR_109964 "18957938|24931166|28678322" TRPM2-AS HGNC:50758 -HGNC:17992 TRPM3 transient receptor potential cation channel subfamily M member 3 protein-coding gene gene with protein product Approved 9q21.12-q21.13 09q21.12-q21.13 "KIAA1616|LTRPC3|GON-2" melastatin 2 transient receptor potential cation channel, subfamily M, member 3 "Transient receptor potential cation channels|MicroRNA protein coding host genes" "249|1691" 2002-01-11 2016-01-28 2023-01-20 80036 ENSG00000083067 OTTHUMG00000019997 uc004aid.5 AB046836 NM_206945 "CCDS94418|CCDS65064|CCDS94419|CCDS6635|CCDS6634|CCDS6636|CCDS43835|CCDS94420|CCDS6637" Q9HCF6 16382100 MGI:2443101 RGD:1304888 608961 objectId:495 HGNC:17992 "ENST00000677713.2|NM_001366145.2" HGNC:17992 +HGNC:17992 TRPM3 transient receptor potential cation channel subfamily M member 3 protein-coding gene gene with protein product Approved 9q21.12-q21.13 09q21.12-q21.13 "KIAA1616|LTRPC3|GON-2" melastatin 2 transient receptor potential cation channel, subfamily M, member 3 "Transient receptor potential cation channels|MicroRNA protein coding host genes" "249|1691" 2002-01-11 2016-01-28 2023-01-20 80036 ENSG00000083067 OTTHUMG00000019997 uc004aid.5 AB046836 NM_206945 "CCDS6634|CCDS94420|CCDS6635|CCDS6636|CCDS6637|CCDS43835|CCDS65064|CCDS94419|CCDS94418" Q9HCF6 16382100 MGI:2443101 RGD:1304888 608961 objectId:495 HGNC:17992 "ENST00000677713.2|NM_001366145.2" HGNC:17992 HGNC:17993 TRPM4 transient receptor potential cation channel subfamily M member 4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FLJ20041 transient receptor potential cation channel, subfamily M, member 4 Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2023-01-20 54795 ENSG00000130529 OTTHUMG00000183184 uc002pmw.4 AK000048 NM_017636 "CCDS56098|CCDS33073" Q8TD43 "11535825|16382100" MGI:1915917 RGD:620244 606936 209301 objectId:496 HGNC:17993 "ENST00000252826.10|NM_017636.4" HGNC:17993 HGNC:14323 TRPM5 transient receptor potential cation channel subfamily M member 5 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "LTRPC5|MTR1" transient receptor potential cation channel, subfamily M, member 5 Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2023-01-20 29850 ENSG00000070985 OTTHUMG00000009896 uc001lwm.5 AF177473 NM_014555 CCDS31340 Q9NZQ8 "10607831|16382100" MGI:1861718 RGD:1310620 604600 objectId:497 HGNC:14323 "ENST00000696290.1|NM_014555.4" -HGNC:17995 TRPM6 transient receptor potential cation channel subfamily M member 6 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "CHAK2|FLJ22628" "HOMG|HSH" "hypomagnesemia, secondary hypocalcemia|transient receptor potential cation channel, subfamily M, member 6" Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2023-01-20 140803 ENSG00000119121 OTTHUMG00000020027 uc004ajl.1 AK026281 NM_017662 "CCDS6647|CCDS55318|CCDS55319" Q9BX84 "10021370|12032570|16382100" MGI:2675603 RGD:1309942 607009 120301 objectId:498 HGNC:17995 "ENST00000360774.6|NM_017662.5" HGNC:17995 -HGNC:17994 TRPM7 transient receptor potential cation channel subfamily M member 7 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "CHAK1|LTRPC7|TRP-PLIK" transient receptor potential cation channel, subfamily M, member 7 Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2023-01-20 54822 ENSG00000092439 OTTHUMG00000172449 uc001zyt.5 AF346629 NM_017672 "CCDS73725|CCDS42035" Q96QT4 "11161216|11385574|16382100" MGI:1929996 RGD:620053 LRG_1192|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1192.xml 605692 159298 objectId:499 HGNC:17994 "ENST00000646667.1|NM_017672.6" HGNC:17994 -HGNC:17961 TRPM8 transient receptor potential cation channel subfamily M member 8 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 transient receptor potential cation channel, subfamily M, member 8 Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2023-01-20 79054 ENSG00000144481 OTTHUMG00000059129 uc002vvh.3 AC005538 NM_024080 "CCDS92975|CCDS33407|CCDS92976" Q7Z2W7 16382100 MGI:2181435 RGD:620762 606678 objectId:500 HGNC:17961 "ENST00000324695.9|NM_024080.5" -HGNC:12340 TRPS1 transcriptional repressor GATA binding 1 protein-coding gene gene with protein product Approved 8q23.3 08q23.3 "LGCR|GC79" trichorhinophalangeal syndrome I "Zinc fingers C2H2-type|GATA zinc finger domain containing" "28|82" 1995-07-06 2016-02-15 2023-01-20 7227 ENSG00000104447 OTTHUMG00000142829 uc003yny.5 AF183810 NM_014112 "CCDS83316|CCDS6318|CCDS64957" Q9UHF7 "8530105|10615131|10647898" MGI:1927616 RGD:1311883 604386 120307 HGNC:12340 "ENST00000395715.8|NM_014112.5" HGNC:12340 +HGNC:17995 TRPM6 transient receptor potential cation channel subfamily M member 6 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "CHAK2|FLJ22628" "HOMG|HSH" "hypomagnesemia, secondary hypocalcemia|transient receptor potential cation channel, subfamily M, member 6" Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2023-01-20 140803 ENSG00000119121 OTTHUMG00000020027 uc004ajl.1 AK026281 NM_017662 "CCDS55319|CCDS6647|CCDS55318" Q9BX84 "10021370|12032570|16382100" MGI:2675603 RGD:1309942 607009 120301 objectId:498 HGNC:17995 "ENST00000360774.6|NM_017662.5" HGNC:17995 +HGNC:17994 TRPM7 transient receptor potential cation channel subfamily M member 7 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "CHAK1|LTRPC7|TRP-PLIK" transient receptor potential cation channel, subfamily M, member 7 Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2023-01-20 54822 ENSG00000092439 OTTHUMG00000172449 uc001zyt.5 AF346629 NM_017672 "CCDS42035|CCDS73725" Q96QT4 "11161216|11385574|16382100" MGI:1929996 RGD:620053 LRG_1192|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1192.xml 605692 159298 objectId:499 HGNC:17994 "ENST00000646667.1|NM_017672.6" HGNC:17994 +HGNC:17961 TRPM8 transient receptor potential cation channel subfamily M member 8 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 transient receptor potential cation channel, subfamily M, member 8 Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2023-01-20 79054 ENSG00000144481 OTTHUMG00000059129 uc002vvh.3 AC005538 NM_024080 "CCDS92976|CCDS92975|CCDS33407" Q7Z2W7 16382100 MGI:2181435 RGD:620762 606678 objectId:500 HGNC:17961 "ENST00000324695.9|NM_024080.5" +HGNC:12340 TRPS1 transcriptional repressor GATA binding 1 protein-coding gene gene with protein product Approved 8q23.3 08q23.3 "LGCR|GC79" trichorhinophalangeal syndrome I "Zinc fingers C2H2-type|GATA zinc finger domain containing" "28|82" 1995-07-06 2016-02-15 2023-01-20 7227 ENSG00000104447 OTTHUMG00000142829 uc003yny.5 AF183810 NM_014112 "CCDS83316|CCDS64957|CCDS6318" Q9UHF7 "8530105|10615131|10647898" MGI:1927616 RGD:1311883 604386 120307 HGNC:12340 "ENST00000395715.8|NM_014112.5" HGNC:12340 HGNC:56224 TRPS1-AS1 TRPS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q23.3 08q23.3 AF178030.2 Antisense RNAs 1987 2022-04-13 2022-04-13 125177374 ENSG00000227170 35399640 -HGNC:20316 TRPT1 tRNA phosphotransferase 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 MGC11134 tRNA splicing 2' phosphotransferase 1 2003-05-22 2023-01-20 83707 ENSG00000149743 OTTHUMG00000167844 uc001nyo.4 NM_031472 "CCDS81579|CCDS53652|CCDS53653|CCDS44639|CCDS31595" Q86TN4 14504659 MGI:1333115 RGD:1310831 610470 HGNC:20316 "ENST00000317459.11|NM_001033678.4" +HGNC:20316 TRPT1 tRNA phosphotransferase 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 MGC11134 tRNA splicing 2' phosphotransferase 1 2003-05-22 2023-01-20 83707 ENSG00000149743 OTTHUMG00000167844 uc001nyo.4 NM_031472 "CCDS31595|CCDS44639|CCDS53653|CCDS81579|CCDS53652" Q86TN4 14504659 MGI:1333115 RGD:1310831 610470 HGNC:20316 "ENST00000317459.11|NM_001033678.4" HGNC:12716 TRPV1 transient receptor potential cation channel subfamily V member 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 VR1 "vanilloid receptor subtype 1|transient receptor potential cation channel, subfamily V, member 1" "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 1997-12-05 2002-02-01 2016-01-28 2023-01-20 7442 ENSG00000196689 OTTHUMG00000177649 uc010vru.3 AJ272063 NM_018727 CCDS45576 Q8NER1 "9349813|11549313|16382100" MGI:1341787 RGD:628841 602076 objectId:507 HGNC:12716 "ENST00000572705.2|NM_080704.4" HGNC:18082 TRPV2 transient receptor potential cation channel subfamily V member 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "VRL|VRL-1|VRL1" transient receptor potential cation channel, subfamily V, member 2 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2002-01-29 2016-01-28 2023-01-20 51393 ENSG00000187688 OTTHUMG00000058989 uc002gpy.3 AF129112 NM_016113 CCDS32576 Q9Y5S1 "10201375|16382100" MGI:1341836 RGD:3965 606676 objectId:508 HGNC:18082 "ENST00000338560.12|NM_016113.5" -HGNC:18084 TRPV3 transient receptor potential cation channel subfamily V member 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 VRL3 transient receptor potential cation channel, subfamily V, member 3 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2002-07-05 2016-01-28 2023-01-20 162514 ENSG00000167723 OTTHUMG00000090695 uc002fvt.3 AF514998 NM_145068 "CCDS11029|CCDS58500" Q8NET8 "12016205|12077606|16382100" MGI:2181407 RGD:1564531 607066 294456 objectId:509 HGNC:18084 "ENST00000576742.6|NM_145068.4" HGNC:18084 -HGNC:18083 TRPV4 transient receptor potential cation channel subfamily V member 4 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "OTRPC4|TRP12|VROAC|VRL-2|VR-OAC|CMT2C" osmosensitive transient receptor potential channel 4 transient receptor potential cation channel, subfamily V, member 4 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2002-01-29 2016-01-28 2023-01-20 59341 ENSG00000111199 OTTHUMG00000169277 uc001tpk.3 AF263523 NM_021625 "CCDS9135|CCDS53828|CCDS53829|CCDS53827|CCDS9134" Q9HBA0 "11025659|11081638|16382100|20037587" MGI:1926945 RGD:69337 LRG_372|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_372.xml 605427 171081 objectId:510 HGNC:18083 "ENST00000261740.7|NM_021625.5" HGNC:18083 +HGNC:18084 TRPV3 transient receptor potential cation channel subfamily V member 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 VRL3 transient receptor potential cation channel, subfamily V, member 3 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2002-07-05 2016-01-28 2023-01-20 162514 ENSG00000167723 OTTHUMG00000090695 uc002fvt.3 AF514998 NM_145068 "CCDS58500|CCDS11029" Q8NET8 "12016205|12077606|16382100" MGI:2181407 RGD:1564531 607066 294456 objectId:509 HGNC:18084 "ENST00000576742.6|NM_145068.4" HGNC:18084 +HGNC:18083 TRPV4 transient receptor potential cation channel subfamily V member 4 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "OTRPC4|TRP12|VROAC|VRL-2|VR-OAC|CMT2C" osmosensitive transient receptor potential channel 4 transient receptor potential cation channel, subfamily V, member 4 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2002-01-29 2016-01-28 2023-01-20 59341 ENSG00000111199 OTTHUMG00000169277 uc001tpk.3 AF263523 NM_021625 "CCDS9135|CCDS9134|CCDS53828|CCDS53829|CCDS53827" Q9HBA0 "11025659|11081638|16382100|20037587" MGI:1926945 RGD:69337 LRG_372|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_372.xml 605427 171081 objectId:510 HGNC:18083 "ENST00000261740.7|NM_021625.5" HGNC:18083 HGNC:3145 TRPV5 transient receptor potential cation channel subfamily V member 5 protein-coding gene gene with protein product Approved 7q34 07q34 CaT2 ECAC1 "epithelial calcium channel 1|transient receptor potential cation channel, subfamily V, member 5" "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2000-05-05 2002-02-01 2016-01-28 2023-01-20 56302 ENSG00000127412 OTTHUMG00000157157 uc003wby.2 AJ271207 NM_019841 CCDS5875 Q9NQA5 "10944439|10945469|16382100" MGI:2429764 RGD:620636 606679 objectId:511 HGNC:3145 "ENST00000265310.6|NM_019841.7" HGNC:14006 TRPV6 transient receptor potential cation channel subfamily V member 6 protein-coding gene gene with protein product Approved 7q34 07q34 CaT1 ECAC2 "epithelial calcium channel 2|transient receptor potential cation channel, subfamily V, member 6" "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2000-11-24 2002-02-01 2016-01-28 2023-01-20 55503 ENSG00000165125 OTTHUMG00000157158 uc003wbx.5 AJ277909 NM_014274 CCDS5874 Q9H1D0 "11097838|11549322|16382100|16717058" MGI:1927259 RGD:69335 606680 objectId:512 HGNC:14006 "ENST00000359396.9|NM_018646.6" HGNC:14006 HGNC:34853 TRQ-CTG1-1 tRNA-Gln (anticodon CTG) 1-1 non-coding RNA RNA, transfer Approved 6p22.3 06p22.3 tRNA-Gln-CTG-1-1 "TRNAQ22|TRQ-CTG1-3" "transfer RNA glutamine 22 (anticodon CUG)|transfer RNA-Gln (CTG) 1-3|transfer RNA-Gln (CTG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189287 HG983718 tRNA-Gln-CTG-1-1 HGNC:34853 @@ -40620,7 +40623,7 @@ HGNC:34670 TRR-TCT3-1 tRNA-Arg (anticodon TCT) 3-1 non-coding RNA RNA, transfer HGNC:34677 TRR-TCT3-2 tRNA-Arg (anticodon TCT) 3-2 non-coding RNA RNA, transfer Approved 11q12.1 11q12.1 tRNA-Arg-TCT-3-2 "TRNAR14|TRR-TCT3-1" "transfer RNA arginine 14 (anticodon UCU)|transfer RNA-Arg (TCT) 3-1|transfer RNA-Arg (TCT) 3-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189115 HG983623 tRNA-Arg-TCT-3-2 HGNC:34677 HGNC:34728 TRR-TCT4-1 tRNA-Arg (anticodon TCT) 4-1 non-coding RNA RNA, transfer Approved 1q23.2 01q23.2 tRNA-Arg-TCT-4-1 TRNAR16 "transfer RNA arginine 16 (anticodon UCU)|transfer RNA-Arg (TCT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189166 HG983625 tRNA-Arg-TCT-4-1 HGNC:34728 HGNC:34571 TRR-TCT5-1 tRNA-Arg (anticodon TCT) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Arg-TCT-5-1 TRNAR5 "transfer RNA arginine 5 (anticodon UCU)|transfer RNA-Arg (TCT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189012 HG983626 tRNA-Arg-TCT-5-1 HGNC:34571 -HGNC:12347 TRRAP transformation/transcription domain associated protein protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "TR-AP|PAF400|Tra1" transformation/transcription domain-associated protein "SAGA complex|Armadillo like helical domain containing|Tip60/Nua4 histone acetyltransferase complex subunits|MicroRNA protein coding host genes" "1059|1492|1634|1691" 1998-10-06 2016-03-15 2023-01-20 8295 ENSG00000196367 OTTHUMG00000150403 uc011kis.2 AF076974 NM_003496 "CCDS94151|CCDS5659|CCDS59066" Q9Y4A5 "9708738|9885574" MGI:2153272 RGD:1305446 TRRAP 603015 objectId:2256 HGNC:12347 "ENST00000456197.2|NM_001375524.1" HGNC:12347 +HGNC:12347 TRRAP transformation/transcription domain associated protein protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "TR-AP|PAF400|Tra1" transformation/transcription domain-associated protein "SAGA complex|Armadillo like helical domain containing|Tip60/Nua4 histone acetyltransferase complex subunits|MicroRNA protein coding host genes" "1059|1492|1634|1691" 1998-10-06 2016-03-15 2023-01-20 8295 ENSG00000196367 OTTHUMG00000150403 uc011kis.2 AF076974 NM_003496 "CCDS59066|CCDS94151|CCDS5659" Q9Y4A5 "9708738|9885574" MGI:2153272 RGD:1305446 TRRAP 603015 objectId:2256 HGNC:12347 "ENST00000456197.2|NM_001375524.1" HGNC:12347 HGNC:35102 TRS-ACT1-1 tRNA-Ser (anticodon ACT) 1-1 pseudogene pseudogene Approved 6p22.1 06p22.1 tRNA-Ser-ACT-1-1 TRNAS32P "transfer RNA serine 32 (anticodon ACU) pseudogene|transfer RNA-Ser (ACT) 1-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189526 HG984007 NG_008584 tRNA-Ser-ACT-1-1 HGNC:35102 HGNC:34920 TRS-AGA1-1 tRNA-Ser (anticodon AGA) 1-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-AGA-1-1 TRNAS24 "transfer RNA serine 24 (anticodon AGA)|transfer RNA-Ser (AGA) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189352 HG984008 tRNA-Ser-AGA-1-1 HGNC:34920 HGNC:34950 TRS-AGA2-1 tRNA-Ser (anticodon AGA) 2-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ser-AGA-2-1 "TRNAS25|TRS-AGA2-2" "transfer RNA serine 25 (anticodon AGA)|transfer RNA-Ser (AGA) 2-2|transfer RNA-Ser (AGA) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189382 HG984010 tRNA-Ser-AGA-2-1 HGNC:34950 @@ -40765,32 +40768,32 @@ HGNC:34616 TRY-GTA9-1 tRNA-Tyr (anticodon GTA) 9-1 non-coding RNA RNA, transfer HGNC:34842 TRY-GTA10-1 tRNA-Tyr (GTA) 10-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Tyr-GTA-10-1 TRNAY11 "transfer RNA tyrosine 11 (anticodon GUA)|transfer RNA-Tyr (GTA) 10-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189278 HG984087 tRNA-Tyr-GTA-10-1 HGNC:35082 TRY-GTA11-1 tRNA-Tyr (anticodon GTA) 11-1 pseudogene pseudogene Approved 7q36.1 07q36.1 tRNA-Tyr-GTA-11-1 TRNAY17P "transfer RNA tyrosine 17 (anticodon GUA) pseudogene|transfer RNA-Tyr (GTA) 11-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189507 HG984088 NG_008565 tRNA-Tyr-GTA-11-1 HGNC:35082 HGNC:35071 TRY-GTA12-1 tRNA-Tyr (anticodon GTA) 12-1 pseudogene pseudogene Approved 15q26.1 15q26.1 tRNA-Tyr-GTA-12-1 TRNAY16P "transfer RNA tyrosine 16 (anticodon GUA) pseudogene|transfer RNA-Tyr (GTA) 12-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-12-06 100189496 HG984089 NG_008554 tRNA-Tyr-GTA-12-1 HGNC:35071 -HGNC:30636 TSACC TSSK6 activating cochaperone protein-coding gene gene with protein product Approved 1q22 01q22 "SSTK-IP|SIP" SSTK-interacting protein C1orf182 chromosome 1 open reading frame 182 2005-08-01 2012-08-16 2016-05-24 2023-01-20 128229 ENSG00000163467 OTTHUMG00000024060 uc001foo.4 AY048672 NM_144627 "CCDS1141|CCDS76223" Q96A04 20829357 MGI:1924177 RGD:1304953 619679 HGNC:30636 "ENST00000368254.6|NM_001304817.2" +HGNC:30636 TSACC TSSK6 activating cochaperone protein-coding gene gene with protein product Approved 1q22 01q22 "SSTK-IP|SIP" SSTK-interacting protein C1orf182 chromosome 1 open reading frame 182 2005-08-01 2012-08-16 2016-05-24 2023-01-20 128229 ENSG00000163467 OTTHUMG00000024060 uc001foo.4 AY048672 NM_144627 "CCDS76223|CCDS1141" Q96A04 20829357 MGI:1924177 RGD:1304953 619679 HGNC:30636 "ENST00000368254.6|NM_001304817.2" HGNC:13922 TSBP1 testis expressed basic protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 TSBP testis specific basic protein C6orf10 chromosome 6 open reading frame 10 2001-04-06 2018-08-22 2018-08-22 2023-01-20 10665 ENSG00000204296 OTTHUMG00000031107 uc021yvt.3 U60665 NM_006781 "CCDS34422|CCDS69082|CCDS75430" Q5SRN2 10803852 MGI:3039565 RGD:1597063 618151 HGNC:13922 "ENST00000533191.6|NM_001286474.2" HGNC:39756 TSBP1-AS1 TSBP1 and BTNL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 XXbac-BPG154L12.4 Antisense RNAs 1987 2018-08-22 2018-08-22 101929163 ENSG00000225914 OTTHUMG00000150222 NR_136245 HGNC:39756 HGNC:12362 TSC1 TSC complex subunit 1 protein-coding gene gene with protein product Approved 9q34 09q34 "KIAA0243|LAM|hamartin" hamartin TSC tuberous sclerosis 1 "Armadillo like helical domain containing|TSC complex" "1492|1497" 1986-01-01 2017-06-29 2023-01-20 7248 ENSG00000165699 OTTHUMG00000020844 uc004cca.3 AF013168 NM_000368 Q92574 "9242607|10806479" MGI:1929183 RGD:620124 "TSC Mutation Database|http://www.LOVD.nl/TSC1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TSC1|LRG_486|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_486.xml" TSC1 605284 120309 HGNC:12362 "ENST00000298552.9|NM_000368.5" HGNC:12362 -HGNC:12363 TSC2 TSC complex subunit 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "tuberin|LAM|PPP1R160" protein phosphatase 1, regulatory subunit 160 TSC4 tuberous sclerosis 2 "Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing|TSC complex" "694|1492|1497" 1989-05-25 2017-06-29 2023-01-20 7249 ENSG00000103197 OTTHUMG00000128745 uc002con.4 AB014460 NM_000548 "CCDS92086|CCDS92085|CCDS10459|CCDS81932|CCDS81934|CCDS81933|CCDS10458|CCDS58408|CCDS45384|CCDS92084" P49815 "1303246|7558029" MGI:102548 RGD:3908 "TSC2 Mutation Database|http://www.LOVD.nl/TSC2|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TSC2|LRG_487|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_487.xml" TSC2 191092 120315 HGNC:12363 "ENST00000219476.9|NM_000548.5" HGNC:12363 +HGNC:12363 TSC2 TSC complex subunit 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "tuberin|LAM|PPP1R160" protein phosphatase 1, regulatory subunit 160 TSC4 tuberous sclerosis 2 "Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing|TSC complex" "694|1492|1497" 1989-05-25 2017-06-29 2023-01-20 7249 ENSG00000103197 OTTHUMG00000128745 uc002con.4 AB014460 NM_000548 "CCDS10458|CCDS81932|CCDS81933|CCDS81934|CCDS10459|CCDS92085|CCDS58408|CCDS92084|CCDS92086|CCDS45384" P49815 "1303246|7558029" MGI:102548 RGD:3908 "TSC2 Mutation Database|http://www.LOVD.nl/TSC2|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TSC2|LRG_487|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_487.xml" TSC2 191092 120315 HGNC:12363 "ENST00000219476.9|NM_000548.5" HGNC:12363 HGNC:16826 TSC22D1 TSC22 domain family member 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "TSC22|MGC17597" TGFB1I4 "transforming growth factor beta 1 induced transcript 4|TSC22 domain family, member 1" 2004-04-16 2005-03-03 2015-11-18 2023-01-20 8848 ENSG00000102804 OTTHUMG00000016838 uc001uzm.5 AJ222700 NM_006022 "CCDS58291|CCDS31966|CCDS9392|CCDS73565" Q15714 "8651929|9022669" MGI:109127 RGD:3850 607715 HGNC:16826 "ENST00000458659.3|NM_183422.4" HGNC:43684 TSC22D1-AS1 TSC22D1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 TSC22D1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-30 2012-08-15 2012-10-12 641467 ENSG00000278156 OTTHUMG00000187411 uc021rjb.2 BC040675 NR_038381 TSC22D1-AS1 HGNC:43684 HGNC:29095 TSC22D2 TSC22 domain family member 2 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "KIAA0669|TILZ4a|TILZ4b|TILZ4c" TSC22 domain family, member 2 2005-03-01 2015-11-18 2023-01-20 9819 ENSG00000196428 OTTHUMG00000159744 uc003exv.4 AB014569 NM_014779 "CCDS93406|CCDS3149" O75157 9734811 MGI:1919283 RGD:1593169 617724 HGNC:29095 "ENST00000688009.1|NM_001303264.2" -HGNC:3051 TSC22D3 TSC22 domain family member 3 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "DIP|GILZ|TSC-22R|hDIP" glucocorticoid-induced leucine zipper DSIPI "delta sleep inducing peptide, immunoreactor|TSC22 domain family, member 3" 1997-06-24 2005-03-03 2015-11-18 2023-01-20 1831 ENSG00000157514 OTTHUMG00000022168 uc004eng.4 Z50781 NM_198057 "CCDS14531|CCDS35365|CCDS14530" Q99576 8982256 MGI:1196284 RGD:621654 300506 HGNC:3051 "ENST00000372383.9|NM_198057.3" +HGNC:3051 TSC22D3 TSC22 domain family member 3 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "DIP|GILZ|TSC-22R|hDIP" glucocorticoid-induced leucine zipper DSIPI "delta sleep inducing peptide, immunoreactor|TSC22 domain family, member 3" 1997-06-24 2005-03-03 2015-11-18 2023-01-20 1831 ENSG00000157514 OTTHUMG00000022168 uc004eng.4 Z50781 NM_198057 "CCDS14530|CCDS35365|CCDS14531" Q99576 8982256 MGI:1196284 RGD:621654 300506 HGNC:3051 "ENST00000372383.9|NM_198057.3" HGNC:21696 TSC22D4 TSC22 domain family member 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "THG-1|TILZ2" TSC22 domain family, member 4 2005-03-01 2015-11-18 2023-01-20 81628 ENSG00000166925 OTTHUMG00000150233 uc003uva.3 BC010406 NM_030935 CCDS5695 Q9Y3Q8 MGI:1926079 RGD:1584380 611914 HGNC:21696 "ENST00000300181.7|NM_030935.5" -HGNC:28422 TSEN2 tRNA splicing endonuclease subunit 2 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "SEN2|SEN2L|MGC2776" "tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)|tRNA splicing endonuclease 2 homolog (S. cerevisiae)|TSEN2 tRNA splicing endonuclease subunit" tRNA-splicing endonuclease subunits 776 2005-03-07 2015-11-27 2023-03-15 80746 ENSG00000154743 OTTHUMG00000129765 uc003bxb.4 BC019582 NM_025265 "CCDS93216|CCDS46757|CCDS46758|CCDS2611" Q8NCE0 15109492 MGI:2141599 RGD:1309946 608753 169410 HGNC:28422 "ENST00000284995.11|NM_025265.4" HGNC:28422 +HGNC:28422 TSEN2 tRNA splicing endonuclease subunit 2 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "SEN2|SEN2L|MGC2776" "tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)|tRNA splicing endonuclease 2 homolog (S. cerevisiae)|TSEN2 tRNA splicing endonuclease subunit" tRNA-splicing endonuclease subunits 776 2005-03-07 2015-11-27 2023-03-15 80746 ENSG00000154743 OTTHUMG00000129765 uc003bxb.4 BC019582 NM_025265 "CCDS93216|CCDS2611|CCDS46757|CCDS46758" Q8NCE0 15109492 MGI:2141599 RGD:1309946 608753 169410 HGNC:28422 "ENST00000284995.11|NM_025265.4" HGNC:28422 HGNC:43965 TSEN2P1 tRNA splicing endonuclease subunit 2 pseudogene 1 pseudogene pseudogene Approved 4q34.2 04q34.2 "tRNA splicing endonuclease 2 homolog (S. cerevisiae) pseudogene 1|TSEN2 tRNA splicing endonuclease subunit pseudogene 1" 2012-05-17 2015-11-27 2015-11-27 391718 ENSG00000251174 OTTHUMG00000160763 NG_009835 PGOHUM00000246144 HGNC:43965 -HGNC:16791 TSEN15 tRNA splicing endonuclease subunit 15 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 C1orf19 "chromosome 1 open reading frame 19|tRNA splicing endonuclease 15 homolog (S. cerevisiae)|TSEN15 tRNA splicing endonuclease subunit" tRNA-splicing endonuclease subunits 776 2001-10-08 2008-06-12 2015-11-27 2023-01-20 116461 ENSG00000198860 OTTHUMG00000035461 uc001gqt.5 AF288394 NM_001127394 "CCDS44286|CCDS1361|CCDS86038|CCDS72993|CCDS91127" Q8WW01 "11318611|17166513" MGI:1913887 RGD:1308584 608756 461308 HGNC:16791 "ENST00000645668.2|NM_052965.4" HGNC:16791 +HGNC:16791 TSEN15 tRNA splicing endonuclease subunit 15 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 C1orf19 "chromosome 1 open reading frame 19|tRNA splicing endonuclease 15 homolog (S. cerevisiae)|TSEN15 tRNA splicing endonuclease subunit" tRNA-splicing endonuclease subunits 776 2001-10-08 2008-06-12 2015-11-27 2023-01-20 116461 ENSG00000198860 OTTHUMG00000035461 uc001gqt.5 AF288394 NM_001127394 "CCDS1361|CCDS72993|CCDS44286|CCDS91127|CCDS86038" Q8WW01 "11318611|17166513" MGI:1913887 RGD:1308584 608756 461308 HGNC:16791 "ENST00000645668.2|NM_052965.4" HGNC:16791 HGNC:43962 TSEN15P1 tRNA splicing endonuclease subunit 15 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 "tRNA splicing endonuclease 15 homolog (S. cerevisiae) pseudogene 1|TSEN15 tRNA splicing endonuclease subunit pseudogene 1" 2012-05-17 2015-11-27 2015-11-27 100288179 ENSG00000230865 OTTHUMG00000059289 NG_030099 PGOHUM00000237247 HGNC:43962 HGNC:43963 TSEN15P2 tRNA splicing endonuclease subunit 15 pseudogene 2 pseudogene pseudogene Approved 1p32.3 01p32.3 "tRNA splicing endonuclease 15 homolog (S. cerevisiae) pseudogene 2|TSEN15 tRNA splicing endonuclease subunit pseudogene 2" 2012-05-17 2015-11-27 2015-11-27 106480781 ENSG00000230604 OTTHUMG00000008626 NG_029171 PGOHUM00000244717 HGNC:43963 HGNC:43964 TSEN15P3 tRNA splicing endonuclease subunit 15 pseudogene 3 pseudogene pseudogene Approved 7p15.3 07p15.3 "tRNA splicing endonuclease 15 homolog (S. cerevisiae) pseudogene 3|TSEN15 tRNA splicing endonuclease subunit pseudogene 3" 2012-05-17 2015-11-27 2015-11-27 105375192 ENSG00000234922 OTTHUMG00000152597 NG_046697 PGOHUM00000232622 HGNC:43964 HGNC:15506 TSEN34 tRNA splicing endonuclease subunit 34 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "SEN34|SEN34L" LENG5 "leukocyte receptor cluster (LRC) member 5|tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)|tRNA splicing endonuclease 34 homolog (S. cerevisiae)|TSEN34 tRNA splicing endonuclease subunit" tRNA-splicing endonuclease subunits 776 2004-01-28 2005-03-12 2015-11-27 2023-01-20 79042 ENSG00000170892 OTTHUMG00000066515 uc032icq.1 AF211970 NM_024075 "CCDS42609|CCDS74446" Q9BSV6 "10941842|15109492" MGI:1913328 RGD:1359564 608754 169405 HGNC:15506 "ENST00000396388.3|NM_001077446.4" HGNC:15506 HGNC:27561 TSEN54 tRNA splicing endonuclease subunit 54 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "SEN54|SEN54L" "tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)|tRNA splicing endonuclease 54 homolog (S. cerevisiae)|TSEN54 tRNA splicing endonuclease subunit" tRNA-splicing endonuclease subunits 776 2005-03-11 2015-11-27 2023-01-20 283989 ENSG00000182173 OTTHUMG00000179684 uc002jof.2 AK097583 NM_207346 CCDS11724 Q7Z6J9 15109492 MGI:1923515 RGD:1597379 608755 168268 HGNC:27561 "ENST00000333213.11|NM_207346.3" HGNC:27561 -HGNC:12367 TSFM Ts translation elongation factor, mitochondrial protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "EF-Tsmt|EF-TS" 1999-05-25 2023-01-20 10102 ENSG00000123297 OTTHUMG00000153042 uc001sqi.4 L37936 NM_005726 "CCDS53810|CCDS53811|CCDS53809|CCDS8958" P43897 7615523 MGI:1913649 RGD:1593058 604723 173154 HGNC:12367 "ENST00000652027.2|NM_005726.6" HGNC:12367 +HGNC:12367 TSFM Ts translation elongation factor, mitochondrial protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "EF-Tsmt|EF-TS" 1999-05-25 2023-01-20 10102 ENSG00000123297 OTTHUMG00000153042 uc001sqi.4 L37936 NM_005726 "CCDS53810|CCDS53809|CCDS53811|CCDS8958" P43897 7615523 MGI:1913649 RGD:1593058 604723 173154 HGNC:12367 "ENST00000652027.2|NM_005726.6" HGNC:12367 HGNC:15971 TSG101 tumor susceptibility 101 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 VPS23 TSG10 "tumor susceptibility gene 10|tumor susceptibility gene 101" ESCRT-I 1116 2001-07-20 2013-08-22 2023-01-20 7251 ENSG00000074319 OTTHUMG00000167725 uc001mor.4 U82130 NM_006292 CCDS7842 Q99816 "9019400|9241264" MGI:106581 RGD:3909 601387 HGNC:15971 "ENST00000251968.4|NM_006292.4" HGNC:14927 TSGA10 testis specific 10 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "CEP4L|CT79" cancer/testis antigen 79 2001-03-20 2015-11-12 2023-01-20 80705 ENSG00000135951 OTTHUMG00000130637 uc002szi.5 AF254756 NM_182911 CCDS2037 Q9BZW7 11179690 MGI:2685063 RGD:621142 607166 HGNC:14927 "ENST00000393483.8|NM_025244.4" HGNC:26555 TSGA10IP testis specific 10 interacting protein protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FLJ32880|FAM161C" 2004-06-29 2015-11-12 2023-01-20 254187 ENSG00000175513 OTTHUMG00000166753 uc031xsf.2 AK057442 NM_152762 CCDS66138 Q3SY00 14702039 MGI:1925556 RGD:1302964 HGNC:26555 "ENST00000532620.6|NM_152762.3" HGNC:12369 TSGA13 testis specific 13 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 2000-08-11 2015-11-12 2023-01-20 114960 ENSG00000213265 OTTHUMG00000154999 uc003vqj.4 AK093329 NM_052933 CCDS5824 Q96PP4 MGI:1891413 RGD:1584118 HGNC:12369 "ENST00000356588.8|NM_052933.4" HGNC:12372 TSHB thyroid stimulating hormone subunit beta protein-coding gene gene with protein product Approved 1p13.2 01p13.2 thyrotropin subunit beta thyroid stimulating hormone beta "Receptor ligands|Glycoprotein hormone subunits" "542|1896" 2001-06-22 2019-05-09 2023-01-20 7252 ENSG00000134200 OTTHUMG00000011881 uc001efs.2 BC069298 NM_000549 CCDS880 P01222 "2457586|3243440" MGI:98848 RGD:3910 188540 166731 ligandId:3734 HGNC:12372 "ENST00000256592.3|NM_000549.5" HGNC:12372 HGNC:12373 TSHR thyroid stimulating hormone receptor protein-coding gene gene with protein product Approved 14q24-q31 14q24-q31 LGR3 Glycoprotein hormone receptors 199 1990-03-05 2023-01-20 7253 ENSG00000165409 OTTHUMG00000171429 uc059dxz.1 AY429111 NM_000369 "CCDS32131|CCDS55935|CCDS9872" P16473 "2558651|2610690" MGI:98849 RGD:3911 "TSH Receptor mutation database|http://endokrinologie.uniklinikum-leipzig.de/tsh/|LRG_523|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_523.xml" TSHR 603372 120320 objectId:255 HGNC:12373 "ENST00000298171.7|NM_000369.5" HGNC:12373 -HGNC:10669 TSHZ1 teashirt zinc finger homeobox 1 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "NY-CO-33|TSH1" SDCCAG33 "serologically defined colon cancer antigen 33|teashirt zinc finger 1|teashirt family zinc finger 1" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1999-07-23 2006-03-14 2007-07-16 2023-01-20 10194 ENSG00000179981 OTTHUMG00000132859 uc002lly.4 AF039698 NM_005786 "CCDS12009|CCDS77199" Q6ZSZ6 17586487 MGI:1346031 RGD:1311684 614427 8614 292088 HGNC:10669 "ENST00000580243.3|NM_001308210.2" HGNC:10669 +HGNC:10669 TSHZ1 teashirt zinc finger homeobox 1 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "NY-CO-33|TSH1" SDCCAG33 "serologically defined colon cancer antigen 33|teashirt zinc finger 1|teashirt family zinc finger 1" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1999-07-23 2006-03-14 2007-07-16 2023-01-20 10194 ENSG00000179981 OTTHUMG00000132859 uc002lly.4 AF039698 NM_005786 "CCDS77199|CCDS12009" Q6ZSZ6 17586487 MGI:1346031 RGD:1311684 614427 8614 292088 HGNC:10669 "ENST00000580243.3|NM_001308210.2" HGNC:10669 HGNC:13010 TSHZ2 teashirt zinc finger homeobox 2 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "ZABC2|OVC10-2|TSH2" "C20orf17|ZNF218" "chromosome 20 open reading frame 17|zinc finger protein 218|teashirt family zinc finger 2" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1998-08-13 2006-03-14 2007-07-16 2023-01-20 128553 ENSG00000182463 OTTHUMG00000033058 uc002xwo.3 AF230201 NM_173485 "CCDS33490|CCDS54474" Q9NRE2 9671742 MGI:2153084 RGD:6490867 614118 8615 HGNC:13010 "ENST00000371497.10|NM_173485.6" HGNC:30700 TSHZ3 teashirt zinc finger homeobox 3 protein-coding gene gene with protein product Approved 19q12 19q12 "KIAA1474|TSH3" teashirt 3 ZNF537 "zinc finger protein 537|teashirt family zinc finger 3" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 2004-02-10 2006-03-14 2007-07-16 2023-01-20 57616 ENSG00000121297 OTTHUMG00000150184 uc002nsy.5 AL136805 NM_020856 CCDS12421 Q63HK5 MGI:2442819 RGD:1306322 614119 8616 HGNC:30700 "ENST00000240587.5|NM_020856.4" HGNC:30700 HGNC:55288 TSHZ3-AS1 TSHZ3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q12 19q12 Antisense RNAs 1987 2020-10-14 2020-10-14 107985311 ENSG00000267662 XR_001753896 @@ -40799,14 +40802,14 @@ HGNC:30719 TSKS testis specific serine kinase substrate protein-coding gene gene HGNC:28850 TSKU tsukushi, small leucine rich proteoglycan protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "E2IG4|TSK" LRRC54 "leucine rich repeat containing 54|tsukushin|tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)" 2005-09-13 2006-11-21 2012-12-05 2023-01-20 25987 ENSG00000182704 OTTHUMG00000165238 uc031qcw.2 AK075476 NM_015516 CCDS8246 Q8WUA8 "11085516|19710929|22880013" MGI:2443855 RGD:1359311 608015 HGNC:28850 "ENST00000333090.5|NM_015516.4" HGNC:55509 TSKU-AS1 TSKU antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.5 11q13.5 Antisense RNAs 1987 2021-03-17 2021-03-17 101928837 ENSG00000255100 NR_120561 HGNC:30743 TSLP thymic stromal lymphopoietin protein-coding gene gene with protein product Approved 5q22.1 05q22.1 2007-08-24 2023-03-15 85480 ENSG00000145777 OTTHUMG00000128791 uc003kpb.3 BC040592 NM_033035 CCDS4101 Q969D9 "11418668|11480573" MGI:1855696 RGD:1586479 607003 ligandId:5083 HGNC:30743 "ENST00000344895.4|NM_033035.5" -HGNC:12379 TSN translin protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "TRSLN|BCLF-1|REHF-1" recombination hotspot associated factor 1997-05-15 2023-01-20 7247 ENSG00000211460 OTTHUMG00000153334 uc002tnl.4 X78627 NM_004622 "CCDS58723|CCDS33284" Q15631 "7947454|9244443" MGI:109263 RGD:621107 600575 HGNC:12379 "ENST00000389682.8|NM_004622.3" -HGNC:26437 TSNARE1 t-SNARE domain containing 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ31164 2005-08-18 2023-01-20 203062 ENSG00000171045 OTTHUMG00000164867 uc003ywk.4 NM_145003 "CCDS87630|CCDS6384|CCDS78369" Q96NA8 14702039 RGD:9421138 HGNC:26437 "ENST00000524325.6|NM_145003.5" +HGNC:12379 TSN translin protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "TRSLN|BCLF-1|REHF-1" recombination hotspot associated factor 1997-05-15 2023-01-20 7247 ENSG00000211460 OTTHUMG00000153334 uc002tnl.4 X78627 NM_004622 "CCDS33284|CCDS58723" Q15631 "7947454|9244443" MGI:109263 RGD:621107 600575 HGNC:12379 "ENST00000389682.8|NM_004622.3" +HGNC:26437 TSNARE1 t-SNARE domain containing 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ31164 2005-08-18 2023-01-20 203062 ENSG00000171045 OTTHUMG00000164867 uc003ywk.4 NM_145003 "CCDS87630|CCDS78369|CCDS6384" Q96NA8 14702039 RGD:9421138 HGNC:26437 "ENST00000524325.6|NM_145003.5" HGNC:12380 TSNAX translin associated factor X protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "TRAX|C3PO" Endoribonucleases 1687 1997-05-15 2016-05-31 2023-01-20 7257 ENSG00000116918 OTTHUMG00000039486 uc001huw.4 X95073 NM_005999 CCDS1596 Q99598 9013868 MGI:1855672 RGD:621574 602964 HGNC:12380 "ENST00000366639.9|NM_005999.3" HGNC:49177 TSNAX-DISC1 TSNAX-DISC1 readthrough (NMD candidate) other readthrough Approved 1q42.2 01q42.2 2013-09-24 2013-09-24 100303453 ENSG00000270106 OTTHUMG00000183905 NR_028393 HGNC:49177 -HGNC:18586 TSNAXIP1 translin associated factor X interacting protein 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 TXI1 translin-associated factor X interacting protein 1 TSNAXIP1 domain containing 2229 2003-03-12 2016-03-29 2023-01-20 55815 ENSG00000102904 OTTHUMG00000137545 uc002euj.5 AF132730 NM_018430 "CCDS73903|CCDS73904|CCDS10846" Q2TAA8 12036294 MGI:1919486 RGD:1565341 607720 HGNC:18586 "ENST00000561639.6|NM_001288990.3" +HGNC:18586 TSNAXIP1 translin associated factor X interacting protein 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 TXI1 translin-associated factor X interacting protein 1 TSNAXIP1 domain containing 2229 2003-03-12 2016-03-29 2023-01-20 55815 ENSG00000102904 OTTHUMG00000137545 uc002euj.5 AF132730 NM_018430 "CCDS10846|CCDS73904|CCDS73903" Q2TAA8 12036294 MGI:1919486 RGD:1565341 607720 HGNC:18586 "ENST00000561639.6|NM_001288990.3" HGNC:20657 TSPAN1 tetraspanin 1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "TSPAN-1|NET-1" Tetraspanins 768 2005-01-06 2023-01-20 10103 ENSG00000117472 OTTHUMG00000007602 uc001cpd.4 BC013404 NM_005727 CCDS530 O60635 "9714763|10719184" MGI:1914055 RGD:1303308 613170 HGNC:20657 "ENST00000372003.6|NM_005727.4" -HGNC:20659 TSPAN2 tetraspanin 2 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "TSPAN-2|TSN2|FLJ12082" Tetraspanins 768 2005-01-06 2023-01-20 10100 ENSG00000134198 OTTHUMG00000011878 uc001eft.5 AF054839 NM_005725 "CCDS76193|CCDS881" O60636 "9714763|11739647" MGI:1917997 RGD:620982 613133 HGNC:20659 "ENST00000369516.7|NM_005725.6" -HGNC:17752 TSPAN3 tetraspanin 3 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "TM4-A|TSPAN-3" TM4SF8 transmembrane 4 superfamily member 8 Tetraspanins 768 2003-07-21 2005-03-21 2005-03-21 2023-01-20 10099 ENSG00000140391 OTTHUMG00000143728 uc002bcj.4 NM_005724 "CCDS53963|CCDS10292|CCDS10293" O60637 MGI:1928098 RGD:1359444 613134 HGNC:17752 "ENST00000267970.9|NM_005724.6" +HGNC:20659 TSPAN2 tetraspanin 2 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "TSPAN-2|TSN2|FLJ12082" Tetraspanins 768 2005-01-06 2023-01-20 10100 ENSG00000134198 OTTHUMG00000011878 uc001eft.5 AF054839 NM_005725 "CCDS881|CCDS76193" O60636 "9714763|11739647" MGI:1917997 RGD:620982 613133 HGNC:20659 "ENST00000369516.7|NM_005725.6" +HGNC:17752 TSPAN3 tetraspanin 3 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "TM4-A|TSPAN-3" TM4SF8 transmembrane 4 superfamily member 8 Tetraspanins 768 2003-07-21 2005-03-21 2005-03-21 2023-01-20 10099 ENSG00000140391 OTTHUMG00000143728 uc002bcj.4 NM_005724 "CCDS10293|CCDS53963|CCDS10292" O60637 MGI:1928098 RGD:1359444 613134 HGNC:17752 "ENST00000267970.9|NM_005724.6" HGNC:11859 TSPAN4 tetraspanin 4 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "NAG-2|TSPAN-4|TETRASPAN" TM4SF7 transmembrane 4 superfamily member 7 Tetraspanins 768 1998-06-10 2005-03-21 2005-03-21 2023-01-20 7106 ENSG00000214063 OTTHUMG00000133305 uc001lsd.2 AF022813 NM_001025234 O14817 9360996 MGI:1928097 RGD:1305810 602644 HGNC:11859 "ENST00000397397.7|NM_003271.5" HGNC:17753 TSPAN5 tetraspanin 5 protein-coding gene gene with protein product Approved 4q23 04q23 "Tspan-5|NET-4" TM4SF9 transmembrane 4 superfamily member 9 Tetraspanins 768 2003-07-21 2005-03-21 2005-03-21 2023-01-20 10098 ENSG00000168785 OTTHUMG00000131008 uc003hub.4 NM_005723 CCDS3646 P62079 MGI:1928096 RGD:1303176 613136 HGNC:17753 "ENST00000305798.8|NM_005723.4" HGNC:55389 TSPAN5-DT TSPAN5 divergent transcript non-coding RNA RNA, long non-coding Approved 4q23 04q23 Divergent transcripts 1990 2020-12-17 2020-12-17 105377342 ENSG00000260641 NR_148380 @@ -40814,17 +40817,17 @@ HGNC:11858 TSPAN6 tetraspanin 6 protein-coding gene gene with protein product Ap HGNC:11854 TSPAN7 tetraspanin 7 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "DXS1692E|TALLA-1|A15|CD231" "MXS1|TM4SF2|MRX58" "transmembrane 4 superfamily member 2|mental retardation, X-linked 58" "CD molecules|Tetraspanins" "471|768" 1993-12-08 2005-03-21 2005-03-21 2023-01-20 7102 ENSG00000156298 OTTHUMG00000024090 uc004deg.5 D29808 NM_004615 CCDS14248 P41732 12070254 MGI:1298407 RGD:1589725 300096 168155 CD231 HGNC:11854 "ENST00000378482.7|NM_004615.4" HGNC:11854 HGNC:11855 TSPAN8 tetraspanin 8 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 CO-029 TM4SF3 transmembrane 4 superfamily member 3 Tetraspanins 768 1997-10-16 2005-03-21 2005-03-21 2023-01-20 7103 ENSG00000127324 OTTHUMG00000169542 uc001swk.2 M35252 NM_004616 CCDS8999 P19075 2395876 MGI:2384918 RGD:621783 600769 HGNC:11855 "ENST00000247829.8|NM_004616.3" HGNC:21640 TSPAN9 tetraspanin 9 protein-coding gene gene with protein product Approved 12p13.33-p13.32 12p13.33-p13.32 NET-5 Tetraspanins 768 2005-03-21 2023-01-20 10867 ENSG00000011105 OTTHUMG00000150333 uc021qtd.1 AF089749 NM_006675 CCDS8520 O75954 "10719184|11739647" MGI:1924558 RGD:1304740 613137 HGNC:21640 "ENST00000011898.10|NM_006675.5" -HGNC:41462 TSPAN9-IT1 TSPAN9 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 TSPAN9 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874356 ENSG00000256197 OTTHUMG00000168180 uc058jxh.1 TSPAN9-IT1 +HGNC:41462 TSPAN9-IT1 TSPAN9 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 TSPAN9 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874356 ENSG00000256197 OTTHUMG00000168180 uc058jxh.1 NR_046833 TSPAN9-IT1 HGNC:29942 TSPAN10 tetraspanin 10 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 OCSP oculospanin Tetraspanins 768 2005-03-21 2023-01-20 83882 ENSG00000182612 OTTHUMG00000178037 uc021ufc.3 BC032802 NM_031945 CCDS58608 Q9H1Z9 12107410 MGI:2384781 RGD:1590062 HGNC:29942 "ENST00000611590.2|NM_001290212.2" HGNC:30795 TSPAN11 tetraspanin 11 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 Tetraspanins 768 2005-03-21 2023-01-20 441631 ENSG00000110900 OTTHUMG00000168484 uc001rjp.4 NM_001080509 CCDS31765 A1L157 MGI:1915748 RGD:1305424 HGNC:30795 "ENST00000546076.6|NM_001370302.1" HGNC:56687 TSPAN11-AS1 TSPAN11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 Antisense RNAs 1987 2023-01-09 2023-01-09 124902910 ENSG00000290531 XR_007063261 HGNC:21641 TSPAN12 tetraspanin 12 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 NET-2 TM4SF12 transmembrane 4 superfamily member 12 Tetraspanins 768 2003-07-21 2005-03-21 2005-03-21 2023-01-20 23554 ENSG00000106025 OTTHUMG00000156980 uc003vjk.4 AF124522 NM_012338 CCDS5777 O95859 MGI:1889818 RGD:1311102 613138 225339 HGNC:21641 "ENST00000222747.8|NM_012338.4" HGNC:21641 HGNC:21643 TSPAN13 tetraspanin 13 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 NET-6 TM4SF13 transmembrane 4 superfamily member 13 Tetraspanins 768 2003-07-21 2005-03-21 2005-03-21 2023-01-20 27075 ENSG00000106537 OTTHUMG00000022968 uc003stq.4 AF100759 NM_014399 CCDS5363 O95857 MGI:1913359 RGD:1311788 613139 HGNC:21643 "ENST00000262067.5|NM_014399.4" -HGNC:23303 TSPAN14 tetraspanin 14 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "DC-TM4F2|MGC11352" TM4SF14 transmembrane 4 superfamily member 14 Tetraspanins 768 2004-10-19 2005-03-21 2005-03-21 2023-01-20 81619 ENSG00000108219 OTTHUMG00000018615 uc001kcj.5 AF311903 NM_030927 "CCDS44448|CCDS7369" Q8NG11 11230166 MGI:1196325 RGD:1305714 HGNC:23303 "ENST00000429989.8|NM_030927.4" +HGNC:23303 TSPAN14 tetraspanin 14 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "DC-TM4F2|MGC11352" TM4SF14 transmembrane 4 superfamily member 14 Tetraspanins 768 2004-10-19 2005-03-21 2005-03-21 2023-01-20 81619 ENSG00000108219 OTTHUMG00000018615 uc001kcj.5 AF311903 NM_030927 "CCDS7369|CCDS44448" Q8NG11 11230166 MGI:1196325 RGD:1305714 HGNC:23303 "ENST00000429989.8|NM_030927.4" HGNC:55833 TSPAN14-AS1 TSPAN14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 Antisense RNAs 1987 2021-08-02 2021-08-02 101929574 ENSG00000226659 NR_120661 HGNC:23298 TSPAN15 tetraspanin 15 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 NET-7 TM4SF15 transmembrane 4 superfamily member 15 Tetraspanins 768 2004-10-19 2005-03-21 2005-03-21 2023-01-20 23555 ENSG00000099282 OTTHUMG00000018381 uc001jpo.2 AY358934 NM_012339 CCDS7294 O95858 "11739647|10719184" MGI:1917673 RGD:1588304 613140 HGNC:23298 "ENST00000373290.7|NM_012339.5" -HGNC:30725 TSPAN16 tetraspanin 16 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TM4-B|TM-8" TM4SF16 transmembrane 4 superfamily member 16 Tetraspanins 768 2004-10-19 2005-03-21 2005-03-21 2023-01-20 26526 ENSG00000130167 OTTHUMG00000180833 uc032hmt.2 BC029908 NM_012466 "CCDS62550|CCDS62549|CCDS12256" Q9UKR8 10500248 617580 HGNC:30725 "ENST00000590327.6|NM_001282509.2" -HGNC:13594 TSPAN17 tetraspanin 17 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 FBX23 "FBXO23|TM4SF17" F-box only protein 23, transmembrane 4 superfamily member 17 Tetraspanins 768 2000-09-27 2005-03-21 2005-03-21 2023-01-20 26262 ENSG00000048140 OTTHUMG00000163230 uc003meu.4 AF174603 NM_001006616 "CCDS54952|CCDS47346|CCDS34298" Q96FV3 "10531035|10531037" MGI:1921507 RGD:1311167 HGNC:13594 "ENST00000508164.6|NM_130465.5" +HGNC:30725 TSPAN16 tetraspanin 16 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TM4-B|TM-8" TM4SF16 transmembrane 4 superfamily member 16 Tetraspanins 768 2004-10-19 2005-03-21 2005-03-21 2023-01-20 26526 ENSG00000130167 OTTHUMG00000180833 uc032hmt.2 BC029908 NM_012466 "CCDS62549|CCDS62550|CCDS12256" Q9UKR8 10500248 617580 HGNC:30725 "ENST00000590327.6|NM_001282509.2" +HGNC:13594 TSPAN17 tetraspanin 17 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 FBX23 "FBXO23|TM4SF17" F-box only protein 23, transmembrane 4 superfamily member 17 Tetraspanins 768 2000-09-27 2005-03-21 2005-03-21 2023-01-20 26262 ENSG00000048140 OTTHUMG00000163230 uc003meu.4 AF174603 NM_001006616 "CCDS34298|CCDS54952|CCDS47346" Q96FV3 "10531035|10531037" MGI:1921507 RGD:1311167 HGNC:13594 "ENST00000508164.6|NM_130465.5" HGNC:20660 TSPAN18 tetraspanin 18 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 TSPAN Tetraspanins 768 2005-03-21 2023-03-15 90139 ENSG00000157570 OTTHUMG00000163883 uc058ark.1 AY358087 NM_130783 CCDS7910 Q96SJ8 11756464 MGI:1917186 RGD:1560411 619399 HGNC:20660 "ENST00000520358.7|NM_130783.5" HGNC:20660 HGNC:54221 TSPAN18-AS1 TSPAN18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Antisense RNAs 1987 2019-04-10 2019-04-10 115253419 ENSG00000255032 HGNC:31886 TSPAN19 tetraspanin 19 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 Tetraspanins 768 2005-03-21 2023-01-20 144448 ENSG00000231738 OTTHUMG00000166181 uc009zsj.4 NM_001100917 CCDS44949 P0C672 HGNC:31886 "ENST00000532498.7|NM_001100917.2" @@ -40838,7 +40841,7 @@ HGNC:1158 TSPO translocator protein protein-coding gene gene with protein produc HGNC:21256 TSPO2 translocator protein 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 dJ34B21.2 similar to RIKEN cDNA 2510027D20 BZRPL1 benzodiazapine receptor (peripheral)-like 1 2003-11-26 2009-09-04 2009-09-04 2023-01-20 222642 ENSG00000112212 OTTHUMG00000014666 uc003opj.4 NM_001010873.2 CCDS34444 Q5TGU0 "19729679|31989647" MGI:1917276 RGD:1594018 619409 HGNC:21256 "ENST00000373161.6|NM_001010873.3" HGNC:16831 TSPOAP1 TSPO associated protein 1 protein-coding gene gene with protein product Approved 17q22 17q22 "PRAX-1|KIAA0612|RIM-BP1|RIMBP1" BZRAP1 benzodiazepine receptor (peripheral) associated protein 1 Fibronectin type III domain containing 555 2003-03-10 2016-03-24 2016-03-24 2023-01-20 9256 ENSG00000005379 OTTHUMG00000178923 uc002ivx.6 AB014512 NM_004758 "CCDS11605|CCDS45742" O95153 "9734811|9915832" MGI:2450877 RGD:708563 610764 HGNC:16831 "ENST00000343736.9|NM_004758.4" HGNC:16831 HGNC:44148 TSPOAP1-AS1 TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q22 17q22 BZRAP1-AS1 "BZRAP1 antisense RNA 1 (non-protein coding)|TSPOAP1 antisense RNA 1" Antisense RNAs 1987 2012-06-30 2016-06-07 2018-06-15 2018-06-15 100506779 ENSG00000265148 OTTHUMG00000178924 uc021uan.2 AK090885 NR_038410 29707762 HGNC:44148 -HGNC:12381 TSPY1 testis specific protein Y-linked 1 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 CT78 cancer/testis antigen 78 TSPY testis specific protein, Y-linked 1989-06-30 2004-04-07 2018-04-30 2023-01-20 7258 ENSG00000258992 OTTHUMG00000171452 uc065cqy.1 NM_003308 "CCDS48205|CCDS76071" Q01534 RGD:3912 480100 285739 HGNC:12381 "ENST00000451548.6|NM_003308.4" +HGNC:12381 TSPY1 testis specific protein Y-linked 1 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 CT78 cancer/testis antigen 78 TSPY testis specific protein, Y-linked 1989-06-30 2004-04-07 2018-04-30 2023-01-20 7258 ENSG00000258992 OTTHUMG00000171452 uc065cqy.1 NM_003308 "CCDS76071|CCDS48205" Q01534 RGD:3912 480100 285739 HGNC:12381 "ENST00000451548.6|NM_003308.4" HGNC:23924 TSPY2 testis specific protein Y-linked 2 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 TSPYQ1 2004-04-05 2018-04-30 2023-01-20 64591 ENSG00000168757 OTTHUMG00000040957 uc004fqr.2 AF106331 NM_022573 CCDS35465 A6NKD2 10773691 HGNC:23924 "ENST00000320701.9|NM_022573.4" HGNC:33876 TSPY3 testis specific protein Y-linked 3 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 CT78 2009-01-27 2018-04-30 2023-01-20 728137 ENSG00000228927 OTTHUMG00000041535 uc033feo.1 BC075016 NM_001077697 CCDS48204 P0CV98 HGNC:33876 "ENST00000457222.6|NM_001077697.2" HGNC:37287 TSPY4 testis specific protein Y-linked 4 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 2009-09-23 2018-04-30 2023-01-20 728395 ENSG00000233803 OTTHUMG00000041529 uc022cja.3 AK093413 NM_001164471 CCDS48202 P0CV99 HGNC:37287 "ENST00000426950.6|NM_001164471.2" @@ -40873,12 +40876,12 @@ HGNC:25542 TSR1 TSR1 ribosome maturation factor protein-coding gene gene with pr HGNC:25455 TSR2 TSR2 ribosome maturation factor protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DT1P1A10|RP1-112K5.2|WGG1" "WGG motif containing 1|escortin" "TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)|TSR2, ribosome maturation factor" Ribosomal biogenesis factors 1729 2006-07-03 2019-01-25 2023-01-20 90121 ENSG00000158526 OTTHUMG00000021628 uc004dte.5 BC007699 NM_058163 CCDS14358 Q969E8 9417904 MGI:1916749 RGD:1562416 300945 412855 HGNC:25455 "ENST00000375151.5|NM_058163.3" HGNC:25455 HGNC:14175 TSR3 TSR3 ribosome maturation factor protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC24381 C16orf42 "chromosome 16 open reading frame 42|TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)|TSR3, acp transferase ribosome maturation factor" Ribosomal biogenesis factors 1729 2000-12-21 2012-06-06 2019-02-01 2023-01-20 115939 ENSG00000007520 OTTHUMG00000047834 uc002cll.4 BC013943 NM_001001410 CCDS10435 Q9UJK0 27084949 MGI:1915577 RGD:1565744 617058 HGNC:14175 "ENST00000007390.3|NM_001001410.3" HGNC:12384 TSSC2 tumor suppressing subtransferable candidate 2 (pseudogene) pseudogene pseudogene Approved 11p15.4 11p15.4 "tumor-supressing STF cDNA 2|asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene" "tumor suppressing subtransferable candidate 2|tumor suppressing subtransferable candidate 2 pseudogene" 1998-06-22 2020-02-11 2020-04-20 650368 ENSG00000223756 OTTHUMG00000011705 NR_024248 9403053 608999 HGNC:12384 -HGNC:12386 TSSC4 tumor suppressing subtransferable candidate 4 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 2000-04-13 2023-01-20 10078 ENSG00000184281 OTTHUMG00000009895 uc001lwk.4 AF125568 NM_005706 "CCDS73241|CCDS7735" Q9Y5U2 "10072438|34131137|35188580" MGI:1861712 RGD:1307043 603852 HGNC:12386 "ENST00000333256.11|NM_005706.4" +HGNC:12386 TSSC4 tumor suppressing subtransferable candidate 4 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 2000-04-13 2023-01-20 10078 ENSG00000184281 OTTHUMG00000009895 uc001lwk.4 AF125568 NM_005706 "CCDS7735|CCDS73241" Q9Y5U2 "10072438|34131137|35188580" MGI:1861712 RGD:1307043 603852 HGNC:12386 "ENST00000333256.11|NM_005706.4" HGNC:11400 TSSK1A testis specific serine kinase 1A (pseudogene) pseudogene pseudogene Approved 22q11.21 22q11.21 "TSSK1|SPOGA1|TSSK1AP" "STK22A|TSSK7P" "serine/threonine kinase 22A (spermiogenesis associated)|testis-specific serine kinase 7 pseudogene|testis specific serine kinase 1A, pseudogene" 1999-10-29 2007-01-30 2020-02-11 2022-05-27 23752 ENSG00000231086 OTTHUMG00000150125 L77570 NG_004670 "10591208|23258646" MGI:1347557 PGOHUM00000246404 HGNC:11400 HGNC:14968 TSSK1B testis specific serine kinase 1B protein-coding gene gene with protein product Approved 5q22.2 05q22.2 "SPOGA4|FKSG81" "STK22D|TSSK1" "serine/threonine kinase 22D (spermiogenesis associated)|testis-specific serine kinase 1" 2001-04-05 2007-01-30 2016-01-26 2023-01-20 83942 ENSG00000212122 OTTHUMG00000128835 uc003kqm.2 AF348076 NM_032028 CCDS4112 Q9BXA7 15044604 MGI:1347557 RGD:1307352 610709 objectId:2257 HGNC:14968 "ENST00000390666.4|NM_032028.4" HGNC:11401 TSSK2 testis specific serine kinase 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "SPOGA2|FLJ38613" STK22B serine/threonine kinase 22B (spermiogenesis associated) 1999-10-19 2005-03-12 2016-01-26 2023-01-20 23617 ENSG00000206203 OTTHUMG00000150118 uc002zow.2 AF362953 NM_053006 CCDS13755 Q96PF2 10591208 MGI:1347559 RGD:1304951 610710 objectId:2258 HGNC:11401 "ENST00000399635.4|NM_053006.5" HGNC:15473 TSSK3 testis specific serine kinase 3 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 SPOGA3 STK22C serine/threonine kinase 22C (spermiogenesis associated) 2001-04-02 2005-03-12 2016-01-26 2023-01-20 81629 ENSG00000162526 OTTHUMG00000007585 uc001bvf.4 AF296450 NM_052841 CCDS362 Q96PN8 "11597141|16336268" MGI:1929914 RGD:1359231 607660 objectId:2259 HGNC:15473 "ENST00000373534.4|NM_052841.4" -HGNC:19825 TSSK4 testis specific serine kinase 4 protein-coding gene gene with protein product Approved 14q12 14q12 chromosome 14 open reading frame 20 "C14orf20|STK22E" serine/threonine kinase 22E 2002-11-27 2005-03-12 2016-01-26 2023-01-20 283629 ENSG00000139908 OTTHUMG00000029323 uc001wng.4 AF542390 NM_174944 "CCDS9618|CCDS53890|CCDS76662" Q6SA08 MGI:1918349 RGD:1560814 610711 objectId:2260 HGNC:19825 "ENST00000339917.10|NM_001184739.2" +HGNC:19825 TSSK4 testis specific serine kinase 4 protein-coding gene gene with protein product Approved 14q12 14q12 chromosome 14 open reading frame 20 "C14orf20|STK22E" serine/threonine kinase 22E 2002-11-27 2005-03-12 2016-01-26 2023-01-20 283629 ENSG00000139908 OTTHUMG00000029323 uc001wng.4 AF542390 NM_174944 "CCDS53890|CCDS76662|CCDS9618" Q6SA08 MGI:1918349 RGD:1560814 610711 objectId:2260 HGNC:19825 "ENST00000339917.10|NM_001184739.2" HGNC:31931 TSSK5P testis specific serine kinase 5, pseudogene pseudogene pseudogene Approved 8q24.3 08q24.3 TSSKps1 "TSSK5P2|TSSK5P1" "testis-specific serine kinase 5 pseudogene 2|testis-specific serine kinase 5 pseudogene 1" 2005-03-10 2014-06-19 2016-01-26 2020-04-20 648630 ENSG00000227473 OTTHUMG00000154993 NG_017084 MGI:1920792 HGNC:31931 HGNC:30410 TSSK6 testis specific serine kinase 6 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "SSTK|FLJ24002|CT72" cancer/testis antigen 72 2005-03-10 2016-01-26 2023-01-20 83983 ENSG00000178093 OTTHUMG00000182146 uc002nmr.4 AK172841 NM_032037 CCDS12403 Q9BXA6 15044604 MGI:2148775 RGD:1559764 610712 objectId:2261 HGNC:30410 "ENST00000585580.4|NM_032037.4" HGNC:12388 TST thiosulfate sulfurtransferase protein-coding gene gene with protein product Approved 22q12.3 22q12.3 RDS rhodanese thiosulfate sulfurtransferase (rhodanese) 1992-08-25 2016-01-18 2023-01-20 7263 ENSG00000128311 OTTHUMG00000150533 uc031rxn.1 Z73420 NM_001270483 CCDS13938 Q16762 1953758 MGI:98852 RGD:3913 180370 2.8.1.1 HGNC:12388 "ENST00000249042.8|NM_003312.6" @@ -40887,37 +40890,37 @@ HGNC:30087 TSTD2 thiosulfate sulfurtransferase like domain containing 2 protein- HGNC:40910 TSTD3 thiosulfate sulfurtransferase like domain containing 3 protein-coding gene gene with protein product Approved 6q16.2 06q16.2 thiosulfate sulfurtransferase (rhodanese)-like domain containing 3 2012-07-04 2018-07-12 2023-01-20 100130890 ENSG00000279170 OTTHUMG00000015265 uc063qfw.1 NM_001195131 CCDS83109 H0UI37 MGI:1924282 RGD:1563572 HGNC:40910 "ENST00000452647.3|NM_001195131.2" HGNC:19140 TTBK1 tau tubulin kinase 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 KIAA1855 Armadillo like helical domain containing 1492 2003-05-28 2023-01-20 84630 ENSG00000146216 OTTHUMG00000014725 uc003ouq.2 AB058758 NM_032538 CCDS34455 Q5TCY1 11347906 MGI:2147036 RGD:1559518 619415 objectId:2262 HGNC:19140 "ENST00000259750.9|NM_032538.3" HGNC:19141 TTBK2 tau tubulin kinase 2 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 KIAA0847 SCA11 spinocerebellar ataxia 11 2003-05-28 2023-01-20 146057 ENSG00000128881 OTTHUMG00000175802 uc001zqo.4 AB020654 NM_173500 CCDS42029 Q6IQ55 10048485 MGI:2155779 RGD:1311661 611695 159341 objectId:2263 HGNC:19141 "ENST00000267890.11|NM_173500.4" HGNC:19141 -HGNC:55598 TTBK2-AS1 TTBK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.2 15q15.2 Antisense RNAs 1987 2021-04-30 2021-04-30 121676926 ENSG00000246283 +HGNC:55598 TTBK2-AS1 TTBK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.2 15q15.2 Antisense RNAs 1987 2021-04-30 2021-04-30 121676926 ENSG00000246283 NR_186317 HGNC:12391 TTC1 tetratricopeptide repeat domain 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 TPR1 Tetratricopeptide repeat domain containing 769 1997-12-12 2023-01-20 7265 ENSG00000113312 OTTHUMG00000130326 uc003lxu.5 U46570 NM_003314 CCDS4348 Q99614 8836031 MGI:1914077 RGD:1359604 601963 HGNC:12391 "ENST00000231238.10|NM_003314.3" -HGNC:12393 TTC3 tetratricopeptide repeat domain 3 protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "TPRD|TPRDI|DCRR1|TPRDII|TPRDIII|RNF105" "Ring finger proteins|Tetratricopeptide repeat domain containing" "58|769" 1998-02-11 2023-01-20 7267 ENSG00000182670 OTTHUMG00000086654 uc002yvz.4 D84296 NM_001320703 "CCDS93095|CCDS93096|CCDS13651" P53804 8947847 MGI:1276539 RGD:1308654 602259 HGNC:12393 "ENST00000418766.6|NM_001330683.2" +HGNC:12393 TTC3 tetratricopeptide repeat domain 3 protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "TPRD|TPRDI|DCRR1|TPRDII|TPRDIII|RNF105" "Ring finger proteins|Tetratricopeptide repeat domain containing" "58|769" 1998-02-11 2023-01-20 7267 ENSG00000182670 OTTHUMG00000086654 uc002yvz.4 D84296 NM_001320703 "CCDS93096|CCDS93095|CCDS13651" P53804 8947847 MGI:1276539 RGD:1308654 602259 HGNC:12393 "ENST00000418766.6|NM_001330683.2" HGNC:40595 TTC3-AS1 TTC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 TTC3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100874006 ENSG00000228677 OTTHUMG00000086658 uc062aaf.1 BF979681 NR_046651 TTC3-AS1 HGNC:40595 HGNC:23318 TTC3P1 tetratricopeptide repeat domain 3 pseudogene 1 pseudogene pseudogene Approved Xq13.3 Xq13.3 RNF105L TTC3L tetratricopeptide repeat domain 3-like 2005-04-07 2010-10-15 2010-10-15 2016-10-05 286495 ENSG00000215105 OTTHUMG00000021869 XR_017027 PGOHUM00000241403 HGNC:23318 HGNC:12394 TTC4 tetratricopeptide repeat domain 4 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "MGC5097|FLJ41930|CNS1" Tetratricopeptide repeat domain containing 769 1998-08-26 2023-01-20 7268 ENSG00000243725 OTTHUMG00000009914 uc001cxx.5 NM_004623 CCDS596 O95801 9933562 MGI:1919604 RGD:1308529 606753 HGNC:12394 "ENST00000371281.4|NM_004623.5" HGNC:12395 TTC4P1 tetratricopeptide repeat domain 4 pseudogene 1 pseudogene pseudogene Approved 7p12.3 07p12.3 TTC4P tetratricopeptide repeat domain 4, pseudogene 1999-10-19 2010-04-19 2010-04-19 2020-04-20 222052 ENSG00000221971 OTTHUMG00000154753 NG_021385 PGOHUM00000232681 HGNC:12395 HGNC:19274 TTC5 tetratricopeptide repeat domain 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 Strap Stress-responsive activator of p300 Tetratricopeptide repeat domain containing 769 2003-11-25 2023-01-20 91875 ENSG00000136319 OTTHUMG00000029506 uc001vwt.5 BC008647 NM_138376 CCDS9546 Q8N0Z6 "11511361|32439809|31727855|35670379" MGI:2683584 RGD:1311284 619014 HGNC:19274 "ENST00000258821.8|NM_138376.3" HGNC:19274 -HGNC:19739 TTC6 tetratricopeptide repeat domain 6 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 "NCRNA00291|C14orf25" "non-protein coding RNA 291|chromosome 14 open reading frame 25" Tetratricopeptide repeat domain containing 769 2002-11-20 2023-01-20 319089 ENSG00000139865 OTTHUMG00000157369 uc001wuj.4 BC014342 NM_001310135 "CCDS91870|CCDS91871" Q86TZ1 MGI:1918096 RGD:1560556 HGNC:19739 "ENST00000553443.6|NM_001310135.5" +HGNC:19739 TTC6 tetratricopeptide repeat domain 6 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 "NCRNA00291|C14orf25" "non-protein coding RNA 291|chromosome 14 open reading frame 25" Tetratricopeptide repeat domain containing 769 2002-11-20 2023-01-20 319089 ENSG00000139865 OTTHUMG00000157369 uc001wuj.4 BC014342 NM_001310135 "CCDS91871|CCDS91870" Q86TZ1 MGI:1918096 RGD:1560556 HGNC:19739 "ENST00000553443.6|NM_001310135.5" HGNC:19750 TTC7A tetratricopeptide repeat domain 7A protein-coding gene gene with protein product Approved 2p21 02p21 KIAA1140 TTC7 tetratricopeptide repeat domain 7 "Tetratricopeptide repeat domain containing|PI4KA lipid kinase complex" "769|1588" 2002-11-25 2004-06-02 2004-06-02 2023-01-20 57217 ENSG00000068724 OTTHUMG00000153121 uc002rvo.4 AB032966 NM_001288951 "CCDS74510|CCDS74511|CCDS33193" Q9ULT0 "10574461|23423984|30553809" MGI:1920999 RGD:1306211 LRG_1323|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1323.xml 609332 353460 HGNC:19750 "ENST00000319190.11|NM_020458.4" HGNC:19750 HGNC:19858 TTC7B tetratricopeptide repeat domain 7B protein-coding gene gene with protein product Approved 14q32.11 14q32.11 TTC7L1 tetratricopeptide repeat domain 7 like 1 "Tetratricopeptide repeat domain containing|PI4KA lipid kinase complex" "769|1588" 2002-11-27 2004-06-04 2004-06-02 2023-01-20 145567 ENSG00000165914 OTTHUMG00000171047 uc001xyp.4 BC035865 NM_001010854 CCDS32140 Q86TV6 MGI:2144724 RGD:1305920 620060 HGNC:19858 "ENST00000328459.11|NM_001010854.2" HGNC:56196 TTC7B-AS1 TTC7B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 Antisense RNAs 1987 2022-01-31 2022-01-31 101928909 ENSG00000259163 NR_110134 -HGNC:20087 TTC8 tetratricopeptide repeat domain 8 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "BBS8|RP51" "Tetratricopeptide repeat domain containing|BBSome" "769|1122" 2002-12-17 2023-03-15 123016 ENSG00000165533 OTTHUMG00000170884 uc059edo.1 AK093891 NM_144596 "CCDS9886|CCDS9885|CCDS32137|CCDS73674" Q8TAM2 "14520415|20451172" MGI:1923510 RGD:1307769 608132 120323 HGNC:20087 "ENST00000380656.7|NM_144596.4" HGNC:20087 +HGNC:20087 TTC8 tetratricopeptide repeat domain 8 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "BBS8|RP51" "Tetratricopeptide repeat domain containing|BBSome" "769|1122" 2002-12-17 2023-03-15 123016 ENSG00000165533 OTTHUMG00000170884 uc059edo.1 AK093891 NM_144596 "CCDS9886|CCDS32137|CCDS9885|CCDS73674" Q8TAM2 "14520415|20451172" MGI:1923510 RGD:1307769 608132 120323 HGNC:20087 "ENST00000380656.7|NM_144596.4" HGNC:20087 HGNC:20267 TTC9 tetratricopeptide repeat domain 9 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "KIAA0227|TTC9A" Tetratricopeptide repeat domain containing 769 2003-11-25 2023-01-20 23508 ENSG00000133985 OTTHUMG00000172133 uc001xmi.2 D86980 NM_015351 CCDS45132 Q92623 MGI:1916730 RGD:1565985 610488 HGNC:20267 "ENST00000256367.3|NM_015351.2" HGNC:53243 TTC9-DT TTC9 divergent transcript non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 Divergent transcripts 1990 2021-01-08 2021-01-08 101928075 ENSG00000245466 OTTHUMG00000171332 NR_110071 HGNC:26395 TTC9B tetratricopeptide repeat domain 9B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ30373 Tetratricopeptide repeat domain containing 769 2005-10-07 2023-01-20 148014 ENSG00000174521 OTTHUMG00000182600 uc002onc.3 BC029539 NM_152479 CCDS12550 Q8N6N2 MGI:1920282 RGD:1306256 HGNC:26395 "ENST00000311308.7|NM_152479.6" HGNC:28432 TTC9C tetratricopeptide repeat domain 9C protein-coding gene gene with protein product Approved 11q12.3 11q12.3 MGC29649 Tetratricopeptide repeat domain containing 769 2005-10-07 2023-01-20 283237 ENSG00000162222 OTTHUMG00000167607 uc001nuy.4 BC032123 NM_173810 CCDS8033 Q8N5M4 MGI:1917637 RGD:1359253 HGNC:28432 "ENST00000316461.9|NM_173810.4" HGNC:23700 TTC12 tetratricopeptide repeat domain 12 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "FLJ13859|FLJ20535|TPARM" tetratricopeptide repeat and armadillo repeat protein "Tetratricopeptide repeat domain containing|Armadillo like helical domain containing" "769|1492" 2003-12-02 2023-01-20 54970 ENSG00000149292 OTTHUMG00000142832 uc001pnu.3 AK000542 NM_017868 "CCDS81627|CCDS8360" Q9H892 "12964006|31978331" MGI:2444588 RGD:1303264 610732 HGNC:23700 "ENST00000529221.6|NM_017868.4" HGNC:23700 HGNC:55508 TTC12-DT TTC12 divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.2 11q23.2 Divergent transcripts 1990 2021-03-17 2021-03-17 120883617 ENSG00000255129 -HGNC:26204 TTC13 tetratricopeptide repeat domain 13 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 FLJ22584 Tetratricopeptide repeat domain containing 769 2003-12-22 2023-01-20 79573 ENSG00000143643 OTTHUMG00000037788 uc001huf.5 NM_024525 "CCDS1588|CCDS44332" Q8NBP0 MGI:2384573 RGD:1310186 HGNC:26204 "ENST00000366661.9|NM_024525.5" +HGNC:26204 TTC13 tetratricopeptide repeat domain 13 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 FLJ22584 Tetratricopeptide repeat domain containing 769 2003-12-22 2023-01-20 79573 ENSG00000143643 OTTHUMG00000037788 uc001huf.5 NM_024525 "CCDS44332|CCDS1588" Q8NBP0 MGI:2384573 RGD:1310186 HGNC:26204 "ENST00000366661.9|NM_024525.5" HGNC:24697 TTC14 tetratricopeptide repeat domain 14 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "FLJ00166|KIAA1980" Tetratricopeptide repeat domain containing 769 2003-12-22 2023-01-20 151613 ENSG00000163728 OTTHUMG00000157859 uc003fkk.4 AB075860 NM_133462 "CCDS46963|CCDS3237|CCDS75055" Q96N46 11853319 MGI:1914370 RGD:1310045 HGNC:24697 "ENST00000296015.9|NM_133462.4" HGNC:52912 TTC14-DT TTC14 divergent transcript non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 Divergent transcripts 1990 2021-06-25 2021-06-25 101928856 ENSG00000239774 OTTHUMG00000157861 NR_183700 HGNC:26536 TTC16 tetratricopeptide repeat domain 16 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 FLJ32780 Tetratricopeptide repeat domain containing 769 2004-01-06 2023-01-20 158248 ENSG00000167094 OTTHUMG00000020711 uc004brq.2 AK057342 NM_144965 CCDS6875 Q8NEE8 12477932 MGI:2443048 RGD:2318922 HGNC:26536 "ENST00000373289.4|NM_144965.3" -HGNC:25596 TTC17 tetratricopeptide repeat domain 17 protein-coding gene gene with protein product Approved 11p12-p11.2 11p12-p11.2 FLJ10890 Tetratricopeptide repeat domain containing 769 2004-01-08 2023-01-20 55761 ENSG00000052841 OTTHUMG00000166398 uc001mxi.4 AK001540 NM_018259 "CCDS31466|CCDS91461|CCDS76396" Q96AE7 "24475127|31488582" MGI:1921819 RGD:1305410 619388 HGNC:25596 "ENST00000039989.9|NM_018259.6" +HGNC:25596 TTC17 tetratricopeptide repeat domain 17 protein-coding gene gene with protein product Approved 11p12-p11.2 11p12-p11.2 FLJ10890 Tetratricopeptide repeat domain containing 769 2004-01-08 2023-01-20 55761 ENSG00000052841 OTTHUMG00000166398 uc001mxi.4 AK001540 NM_018259 "CCDS76396|CCDS31466|CCDS91461" Q96AE7 "24475127|31488582" MGI:1921819 RGD:1305410 619388 HGNC:25596 "ENST00000039989.9|NM_018259.6" HGNC:26006 TTC19 tetratricopeptide repeat domain 19 protein-coding gene gene with protein product Approved 17p12 17p12 "FLJ20343|MGC19520" Tetratricopeptide repeat protein 19, mitochondrial "Mitochondrial respiratory chain complex assembly factors|Tetratricopeptide repeat domain containing" "645|769" 2004-08-27 2023-01-20 54902 ENSG00000011295 OTTHUMG00000059306 uc002gph.4 AK094819 NM_017775 CCDS11174 Q6DKK2 "21278747|24368687" MGI:1920045 RGD:1582808 613814 260358 HGNC:26006 "ENST00000261647.10|NM_017775.4" HGNC:26006 -HGNC:30761 TTC21A tetratricopeptide repeat domain 21A protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "STI2|IFT139A|Thm2" Stress-inducible protein 2 "Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes|IFT-A complex" "769|1691|1978" 2005-01-26 2023-01-20 199223 ENSG00000168026 OTTHUMG00000155973 uc003cjc.3 AJ487015 NM_145755 "CCDS46800|CCDS43068|CCDS93247" Q8NDW8 "32167205|12543795|30929735" MGI:1921302 RGD:1308806 611430 HGNC:30761 "ENST00000683103.1|NM_001366900.1" HGNC:30761 +HGNC:30761 TTC21A tetratricopeptide repeat domain 21A protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "STI2|IFT139A|Thm2" Stress-inducible protein 2 "Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes|IFT-A complex" "769|1691|1978" 2005-01-26 2023-01-20 199223 ENSG00000168026 OTTHUMG00000155973 uc003cjc.3 AJ487015 NM_145755 "CCDS93247|CCDS43068|CCDS46800" Q8NDW8 "32167205|12543795|30929735" MGI:1921302 RGD:1308806 611430 HGNC:30761 "ENST00000683103.1|NM_001366900.1" HGNC:30761 HGNC:25660 TTC21B tetratricopeptide repeat domain 21B protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "FLJ11457|JBTS11|NPHP12|IFT139B|THM1|FAP60|FLA17|IFT139|CFAP60" "intraflagellar transport 139 homolog|tetratricopeptide repeat-containing hedgehog modulator-1|Nephronophthisis type12" "Tetratricopeptide repeat domain containing|IFT-A complex" "769|1978" 2005-01-26 2023-01-20 79809 ENSG00000123607 OTTHUMG00000154083 uc002udk.4 AB082523 NM_024753 CCDS33315 Q7Z4L5 "12056414|21258341" MGI:1920918 RGD:1565122 612014 260351 HGNC:25660 "ENST00000243344.8|NM_024753.5" HGNC:25660 HGNC:41115 TTC21B-AS1 TTC21B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.3 02q24.3 Antisense RNAs 1987 2013-10-15 2014-11-19 100506134 ENSG00000224490 OTTHUMG00000154082 NR_038983 TTC21B-AS1 HGNC:41115 -HGNC:26067 TTC22 tetratricopeptide repeat domain 22 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ20619 Tetratricopeptide repeat domain containing 769 2005-08-12 2023-01-20 55001 ENSG00000006555 OTTHUMG00000009916 uc001cxz.5 AK000626 NM_017904 "CCDS598|CCDS44152" Q5TAA0 MGI:3045307 RGD:1561518 HGNC:26067 "ENST00000371276.9|NM_001114108.2" +HGNC:26067 TTC22 tetratricopeptide repeat domain 22 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ20619 Tetratricopeptide repeat domain containing 769 2005-08-12 2023-01-20 55001 ENSG00000006555 OTTHUMG00000009916 uc001cxz.5 AK000626 NM_017904 "CCDS44152|CCDS598" Q5TAA0 MGI:3045307 RGD:1561518 HGNC:26067 "ENST00000371276.9|NM_001114108.2" HGNC:25730 TTC23 tetratricopeptide repeat domain 23 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "FLJ12572|HCC-8" Tetratricopeptide repeat domain containing 769 2005-08-12 2023-01-20 64927 ENSG00000103852 OTTHUMG00000147344 uc010bor.5 NM_022905 CCDS10379 Q5W5X9 32055034 MGI:1914259 RGD:1310409 HGNC:25730 "ENST00000394132.7|NM_001288615.3" -HGNC:56675 TTC23-AS1 TTC23 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 AC036108.3 Antisense RNAs 1987 2022-12-23 2022-12-23 128193289 ENSG00000261616 +HGNC:56675 TTC23-AS1 TTC23 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 AC036108.3 Antisense RNAs 1987 2022-12-23 2022-12-23 128193289 ENSG00000261616 NR_186223 HGNC:26355 TTC23L tetratricopeptide repeat domain 23 like protein-coding gene gene with protein product Approved 5p13.2 05p13.2 FLJ25439 tetratricopeptide repeat domain 23-like 2008-07-14 2016-01-29 2023-01-20 153657 ENSG00000205838 OTTHUMG00000162020 uc003jiu.4 NM_144725 CCDS54840 Q6PF05 25751302 MGI:1923027 RGD:1564928 616344 HGNC:26355 "ENST00000505624.6|NM_144725.4" HGNC:55215 TTC23L-AS1 TTC23L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 Antisense RNAs 1987 2020-08-21 2020-08-21 101929704 ENSG00000272323 NR_183259 HGNC:32348 TTC24 tetratricopeptide repeat domain 24 protein-coding gene gene with protein product Approved 1q22 01q22 Tetratricopeptide repeat domain containing 769 2005-12-14 2023-01-20 164118 ENSG00000187862 OTTHUMG00000033202 uc021pbf.1 NM_001105669 CCDS53379 A2A3L6 MGI:2443841 RGD:2319887 HGNC:32348 "ENST00000368236.8|NM_001105669.4" @@ -40933,10 +40936,10 @@ HGNC:34297 TTC34 tetratricopeptide repeat domain 34 protein-coding gene gene wit HGNC:33708 TTC36 tetratricopeptide repeat domain 36 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 HBP21 HSP70 binding protein 21 Tetratricopeptide repeat domain containing 769 2008-04-15 2023-01-20 143941 ENSG00000172425 OTTHUMG00000166338 uc001ptg.2 EU489483 NM_001080441 CCDS31687 A6NLP5 MGI:2384760 RGD:1359544 HGNC:33708 "ENST00000302783.10|NM_001080441.4" HGNC:55495 TTC36-AS1 TTC36 and KMT2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Antisense RNAs 1987 2021-03-15 2021-03-15 101929089 ENSG00000255435 NR_120572 HGNC:26082 TTC38 tetratricopeptide repeat domain 38 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 FLJ20699 Tetratricopeptide repeat domain containing 769 2008-06-11 2023-01-20 55020 ENSG00000075234 OTTHUMG00000150494 uc003bhi.3 NM_017931 CCDS43030 Q5R3I4 MGI:2146198 RGD:1306041 HGNC:26082 "ENST00000381031.8|NM_017931.4" -HGNC:18657 TTC39A tetratricopeptide repeat domain 39A protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "KIAA0452|DEME-6" C1orf34 chromosome 1 open reading frame 34 Tetratricopeptide repeat domain containing 769 2002-05-29 2008-06-23 2008-06-23 2023-01-20 22996 ENSG00000085831 OTTHUMG00000008193 uc001csl.4 AB007921 NM_001080494 "CCDS90954|CCDS72790|CCDS72789|CCDS90953|CCDS44143|CCDS76162|CCDS76163|CCDS44144" Q5SRH9 "9455484|9461476" MGI:2444350 RGD:1311126 619885 HGNC:18657 "ENST00000680483.1|NM_001297663.2" +HGNC:18657 TTC39A tetratricopeptide repeat domain 39A protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "KIAA0452|DEME-6" C1orf34 chromosome 1 open reading frame 34 Tetratricopeptide repeat domain containing 769 2002-05-29 2008-06-23 2008-06-23 2023-01-20 22996 ENSG00000085831 OTTHUMG00000008193 uc001csl.4 AB007921 NM_001080494 "CCDS44143|CCDS90953|CCDS72790|CCDS44144|CCDS72789|CCDS90954|CCDS76162|CCDS76163" Q5SRH9 "9455484|9461476" MGI:2444350 RGD:1311126 619885 HGNC:18657 "ENST00000680483.1|NM_001297663.2" HGNC:40851 TTC39A-AS1 TTC39A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Antisense RNAs 1987 2014-02-02 2014-11-19 102724097 ENSG00000261664 OTTHUMG00000008189 CB128747 NR_123731 TTC39A-AS1 HGNC:40851 HGNC:23704 TTC39B tetratricopeptide repeat domain 39B protein-coding gene gene with protein product Approved 9p22.3 09p22.3 FLJ33868 C9orf52 chromosome 9 open reading frame 52 Tetratricopeptide repeat domain containing 769 2003-12-02 2008-06-23 2008-06-23 2023-01-20 158219 ENSG00000155158 OTTHUMG00000019581 uc003zlr.3 AK091187 NM_152574 "CCDS55294|CCDS6477" Q5VTQ0 MGI:1917113 RGD:1305797 613574 HGNC:23704 "ENST00000512701.7|NM_152574.3" -HGNC:26595 TTC39C tetratricopeptide repeat domain 39C protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "FLJ33761|HsT2697" C18orf17 chromosome 18 open reading frame 17 Tetratricopeptide repeat domain containing 769 2004-05-04 2008-06-23 2008-06-23 2023-01-20 125488 ENSG00000168234 OTTHUMG00000179403 uc002kuu.4 AK091080 NM_153211 "CCDS58616|CCDS77165|CCDS45839|CCDS32804" Q8N584 14702039 MGI:1919997 RGD:1585423 HGNC:26595 "ENST00000317571.8|NM_001135993.2" +HGNC:26595 TTC39C tetratricopeptide repeat domain 39C protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "FLJ33761|HsT2697" C18orf17 chromosome 18 open reading frame 17 Tetratricopeptide repeat domain containing 769 2004-05-04 2008-06-23 2008-06-23 2023-01-20 125488 ENSG00000168234 OTTHUMG00000179403 uc002kuu.4 AK091080 NM_153211 "CCDS32804|CCDS45839|CCDS58616|CCDS77165" Q8N584 14702039 MGI:1919997 RGD:1585423 HGNC:26595 "ENST00000317571.8|NM_001135993.2" HGNC:51321 TTC39C-AS1 TTC39C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 Antisense RNAs 1987 2014-10-02 2014-10-02 102724246 ENSG00000264745 OTTHUMG00000179404 "DB448536|DB513641|BX102499" NR_110796 TTC39C-AS1 HGNC:51321 HGNC:44019 TTC39CP1 tetratricopeptide repeat domain 39C pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 2012-05-28 2012-05-28 100288825 ENSG00000250627 OTTHUMG00000161074 NG_022030 PGOHUM00000245667 HGNC:44019 HGNC:35451 TTC39DP tetratricopeptide repeat domain 39D, pseudogene pseudogene pseudogene Approved 2p22.1 02p22.1 2010-08-19 2020-08-14 646640 ENSG00000227238 OTTHUMG00000153484 NG_021561 MGI:1914987 PGOHUM00000240625 HGNC:35451 @@ -40944,26 +40947,26 @@ HGNC:49210 TTC41P tetratricopeptide repeat domain 41, pseudogene pseudogene pseu HGNC:12397 TTF1 transcription termination factor 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 transcription termination factor, RNA polymerase I Myb/SANT domain containing 532 1996-05-13 2016-05-24 2023-01-20 7270 ENSG00000125482 OTTHUMG00000020836 uc004cbl.5 BC050734 NM_007344 "CCDS6948|CCDS75925" Q15361 7597036 MGI:105044 RGD:1565673 600777 HGNC:12397 "ENST00000334270.3|NM_007344.4" HGNC:12398 TTF2 transcription termination factor 2 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "HuF2|ZGRF6" "zinc finger, GRF-type containing 6|transcription release factor 2" transcription termination factor, RNA polymerase II "Zinc fingers GRF-type|MicroRNA protein coding host genes" "135|1691" 1998-10-14 2016-05-24 2023-01-20 8458 ENSG00000116830 OTTHUMG00000012030 uc001egy.4 AF073771 NM_003594 CCDS892 Q9UNY4 "9748214|10455150" MGI:1921294 RGD:1309145 604718 HGNC:12398 "ENST00000369466.9|NM_003594.4" HGNC:29029 TTI1 TELO2 interacting protein 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 smg-10 smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans) KIAA0406 "KIAA0406|Tel2 interacting protein 1 homolog (S. pombe)" "TTT complex|Armadillo like helical domain containing" "1320|1492" 2006-05-19 2010-06-22 2011-11-10 2023-01-20 9675 ENSG00000101407 OTTHUMG00000032433 uc002xhm.4 BC013121 NM_014657 CCDS13300 O43156 "9455477|20427287|20371770" MGI:1922675 RGD:1562582 614425 HGNC:29029 "ENST00000373447.8|NM_001303457.2" HGNC:29029 -HGNC:26262 TTI2 TELO2 interacting protein 2 protein-coding gene gene with protein product Approved 8p12 08p12 FLJ23263 C8orf41 "chromosome 8 open reading frame 41|Tel2 interacting protein 2 homolog (S. pombe)" "TTT complex|Armadillo like helical domain containing" "1320|1492" 2005-07-28 2011-09-22 2011-11-10 2023-01-20 80185 ENSG00000129696 OTTHUMG00000163956 uc003xjn.2 AK026916 NM_025115 "CCDS6090|CCDS83276" Q6NXR4 "20801936|20810650" MGI:2384576 RGD:1310414 614426 392264 HGNC:26262 "ENST00000431156.7|NM_001102401.4" HGNC:26262 -HGNC:12401 TTK TTK protein kinase protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "MPS1|MPS1L1|CT96|MPH1" "cancer/testis antigen 96|monopolar spindle 1 kinase" 1995-07-11 2023-01-20 7272 ENSG00000112742 OTTHUMG00000015088 uc003pjb.5 NM_001166691 "CCDS55040|CCDS4993" P33981 1639825 MGI:1194921 RGD:1305558 604092 objectId:2264 HGNC:12401 "ENST00000369798.7|NM_003318.5" +HGNC:26262 TTI2 TELO2 interacting protein 2 protein-coding gene gene with protein product Approved 8p12 08p12 FLJ23263 C8orf41 "chromosome 8 open reading frame 41|Tel2 interacting protein 2 homolog (S. pombe)" "TTT complex|Armadillo like helical domain containing" "1320|1492" 2005-07-28 2011-09-22 2011-11-10 2023-01-20 80185 ENSG00000129696 OTTHUMG00000163956 uc003xjn.2 AK026916 NM_025115 "CCDS83276|CCDS6090" Q6NXR4 "20801936|20810650" MGI:2384576 RGD:1310414 614426 392264 HGNC:26262 "ENST00000431156.7|NM_001102401.4" HGNC:26262 +HGNC:12401 TTK TTK protein kinase protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "MPS1|MPS1L1|CT96|MPH1" "cancer/testis antigen 96|monopolar spindle 1 kinase" 1995-07-11 2023-01-20 7272 ENSG00000112742 OTTHUMG00000015088 uc003pjb.5 NM_001166691 "CCDS4993|CCDS55040" P33981 1639825 MGI:1194921 RGD:1305558 604092 objectId:2264 HGNC:12401 "ENST00000369798.7|NM_003318.5" HGNC:21586 TTL tubulin tyrosine ligase protein-coding gene gene with protein product Approved 2q14.1 02q14.1 MGC46235 Tubulin tyrosine ligase family 779 2004-01-13 2023-01-20 150465 ENSG00000114999 OTTHUMG00000131316 uc002thu.4 NM_153712 CCDS2096 Q8NG68 11431336 MGI:1916987 RGD:621113 608291 6.3.2.25 HGNC:21586 "ENST00000233336.7|NM_153712.5" HGNC:1312 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "PGs3|TPGS3" polyglutamylase subunit 3 C22orf7 "tubulin tyrosine ligase-like 1|tubulin tyrosine ligase-like family member 1|tubulin tyrosine ligase like 1" "Tubulin tyrosine ligase family|Tubulin polyglutamylase complex subunits" "779|2117" 2000-03-29 2021-12-09 2023-03-15 25809 ENSG00000100271 OTTHUMG00000150699 uc003bdi.5 AL096886 NM_012263 CCDS14043 O95922 "10591208|11054573|15890843" MGI:2443047 RGD:1309124 608955 HGNC:1312 "ENST00000266254.12|NM_012263.5" HGNC:40111 TTLL1-AS1 TTLL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Antisense RNAs 1987 2020-04-01 2020-04-01 100506679 ENSG00000230319 OTTHUMG00000150695 NR_125362 -HGNC:21211 TTLL2 tubulin tyrosine ligase like 2 protein-coding gene gene with protein product Approved 6q27 06q27 "NYD-TSPG|dJ366N23.3" C6orf104 "chromosome 6 open reading frame 104|tubulin tyrosine ligase-like family member 2" Tubulin tyrosine ligase family 779 2003-11-25 2004-01-14 2015-11-19 2023-01-20 83887 ENSG00000120440 OTTHUMG00000016023 uc003qvs.2 AK093039 NM_031949 "CCDS94032|CCDS5301" Q9BWV7 11054573 MGI:3644030 RGD:1305200 HGNC:21211 "ENST00000239587.10|NM_031949.5" -HGNC:24483 TTLL3 tubulin tyrosine ligase like 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "DKFZP434B103|HOTTL" tubulin tyrosine ligase-like family member 3 Tubulin tyrosine ligase family 779 2004-01-13 2015-11-19 2023-03-15 26140 ENSG00000214021 OTTHUMG00000128439 uc003btg.5 NM_001025930.2 "CCDS93200|CCDS93199" Q9Y4R7 11054573 MGI:2141418 RGD:1311255 619195 HGNC:24483 "ENST00000685419.1|NM_001387446.1" +HGNC:21211 TTLL2 tubulin tyrosine ligase like 2 protein-coding gene gene with protein product Approved 6q27 06q27 "NYD-TSPG|dJ366N23.3" C6orf104 "chromosome 6 open reading frame 104|tubulin tyrosine ligase-like family member 2" Tubulin tyrosine ligase family 779 2003-11-25 2004-01-14 2015-11-19 2023-01-20 83887 ENSG00000120440 OTTHUMG00000016023 uc003qvs.2 AK093039 NM_031949 "CCDS5301|CCDS94032" Q9BWV7 11054573 MGI:3644030 RGD:1305200 HGNC:21211 "ENST00000239587.10|NM_031949.5" +HGNC:24483 TTLL3 tubulin tyrosine ligase like 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "DKFZP434B103|HOTTL" tubulin tyrosine ligase-like family member 3 Tubulin tyrosine ligase family 779 2004-01-13 2015-11-19 2023-03-15 26140 ENSG00000214021 OTTHUMG00000128439 uc003btg.5 NM_001025930.2 "CCDS93199|CCDS93200" Q9Y4R7 11054573 MGI:2141418 RGD:1311255 619195 HGNC:24483 "ENST00000685419.1|NM_001387446.1" HGNC:28976 TTLL4 tubulin tyrosine ligase like 4 protein-coding gene gene with protein product Approved 2q35 02q35 KIAA0173 tubulin tyrosine ligase-like family member 4 Tubulin tyrosine ligase family 779 2004-03-11 2015-11-19 2023-01-20 9654 ENSG00000135912 OTTHUMG00000133081 uc002viy.4 NM_014640 CCDS2422 Q14679 "11054573|18045879|20442285|32792670" MGI:1914784 RGD:1594742 618738 HGNC:28976 "ENST00000392102.6|NM_014640.5" HGNC:19963 TTLL5 tubulin tyrosine ligase like 5 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 STAMP "tubulin polyglutamylase TTLL5|SRC1 and TIF2-associated modulatory protein" KIAA0998 "KIAA0998|tubulin tyrosine ligase-like family member 5" Tubulin tyrosine ligase family 779 2003-11-21 2005-07-29 2015-11-19 2023-01-20 23093 ENSG00000119685 OTTHUMG00000171611 uc001xrx.4 AF107885 NM_015072 CCDS32124 Q6EMB2 "15890843|27162334" MGI:2443657 RGD:1563583 612268 442634 HGNC:19963 "ENST00000298832.14|NM_015072.5" HGNC:19963 -HGNC:26664 TTLL6 tubulin tyrosine ligase like 6 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 FLJ35808 tubulin tyrosine ligase-like family member 6 Tubulin tyrosine ligase family 779 2006-01-24 2015-11-19 2023-01-20 284076 ENSG00000170703 OTTHUMG00000156978 uc060gxc.1 AK093127 NM_173623 "CCDS45724|CCDS11537" Q8N841 15890843 MGI:2683461 RGD:1311922 610849 HGNC:26664 "ENST00000393382.8|NM_001130918.3" +HGNC:26664 TTLL6 tubulin tyrosine ligase like 6 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 FLJ35808 tubulin tyrosine ligase-like family member 6 Tubulin tyrosine ligase family 779 2006-01-24 2015-11-19 2023-01-20 284076 ENSG00000170703 OTTHUMG00000156978 uc060gxc.1 AK093127 NM_173623 "CCDS11537|CCDS45724" Q8N841 15890843 MGI:2683461 RGD:1311922 610849 HGNC:26664 "ENST00000393382.8|NM_001130918.3" HGNC:26242 TTLL7 tubulin tyrosine ligase like 7 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FLJ23033 tubulin tyrosine ligase-like family member 7 Tubulin tyrosine ligase family 779 2005-07-28 2015-11-19 2023-01-20 79739 ENSG00000137941 OTTHUMG00000009932 uc001djc.4 AY170843 NM_024686 CCDS690 Q6ZT98 15890843 MGI:1918142 RGD:1566117 618813 HGNC:26242 "ENST00000260505.13|NM_024686.6" HGNC:41486 TTLL7-IT1 TTLL7 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 TTLL7 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874314 ENSG00000233061 OTTHUMG00000009973 uc057hyj.1 NR_046841 TTLL7-IT1 HGNC:34000 TTLL8 tubulin tyrosine ligase like 8 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 tubulin tyrosine ligase-like family member 8 Tubulin tyrosine ligase family 779 2008-02-21 2015-11-19 2023-03-15 164714 ENSG00000138892 OTTHUMG00000150241 uc062fiw.1 NM_001080447 CCDS93183 A6PVC2 15890843 MGI:1922902 RGD:1306462 619193 HGNC:34000 HGNC:16118 TTLL9 tubulin tyrosine ligase like 9 protein-coding gene gene with protein product Approved 20q11 20q11 dJ310O13.1 C20orf125 "chromosome 20 open reading frame 125|tubulin tyrosine ligase-like family member 9" Tubulin tyrosine ligase family 779 2001-07-17 2005-07-28 2015-11-19 2023-01-20 164395 ENSG00000131044 OTTHUMG00000186843 uc002wwy.2 AL031658 NM_001008409 "CCDS93027|CCDS42863" Q3SXZ7 "15890843|24196831" MGI:1913589 RGD:1359622 619838 HGNC:16118 "ENST00000535842.6|NM_001008409.5" HGNC:16118 HGNC:26693 TTLL10 tubulin tyrosine ligase like 10 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ36119 TTLL5 "tubulin tyrosine ligase-like family, member 5|tubulin tyrosine ligase-like family member 10" Tubulin tyrosine ligase family 779 2005-07-13 2005-07-29 2015-11-19 2023-01-20 254173 ENSG00000162571 OTTHUMG00000000851 uc010nyg.2 AK093438 NM_153254 "CCDS44036|CCDS8" Q6ZVT0 15890843 MGI:1921855 RGD:1560839 HGNC:26693 "ENST00000379289.6|NM_001130045.2" HGNC:41159 TTLL10-AS1 TTLL10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 TTLL10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100506376 ENSG00000205231 OTTHUMG00000000850 uc001acx.2 AK128833 NR_173246 TTLL10-AS1 HGNC:41159 -HGNC:18113 TTLL11 tubulin tyrosine ligase like 11 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 bA244O19.1 "C9orf20|TTLL11-IT1|C9orf148" "chromosome 9 open reading frame 20|tubulin tyrosine ligase-like family member 11|TTLL11 intronic transcript 1|chromosome 9 open reading frame 148|TTLL11 intronic transcript 1 (non-protein coding)" Tubulin tyrosine ligase family 779 2002-01-31 2005-07-28 2016-04-19 2023-01-20 158135 ENSG00000175764 OTTHUMG00000020597 uc011lyl.3 AF521886 NM_001139442 "CCDS48012|CCDS6834" Q8NHH1 15890843 MGI:1921660 RGD:1588742 HGNC:18113 "ENST00000321582.11|NM_001139442.2" +HGNC:18113 TTLL11 tubulin tyrosine ligase like 11 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 bA244O19.1 "C9orf20|TTLL11-IT1|C9orf148" "chromosome 9 open reading frame 20|tubulin tyrosine ligase-like family member 11|TTLL11 intronic transcript 1|chromosome 9 open reading frame 148|TTLL11 intronic transcript 1 (non-protein coding)" Tubulin tyrosine ligase family 779 2002-01-31 2005-07-28 2016-04-19 2023-01-20 158135 ENSG00000175764 OTTHUMG00000020597 uc011lyl.3 AF521886 NM_001139442 "CCDS6834|CCDS48012" Q8NHH1 15890843 MGI:1921660 RGD:1588742 HGNC:18113 "ENST00000321582.11|NM_001139442.2" HGNC:28974 TTLL12 tubulin tyrosine ligase like 12 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 KIAA0153 tubulin tyrosine ligase-like family member 12 Tubulin tyrosine ligase family 779 2006-02-02 2015-11-19 2023-01-20 23170 ENSG00000100304 OTTHUMG00000150682 uc003bdq.4 D63487 NM_015140 CCDS14047 Q14166 15890843 MGI:3039573 RGD:1305319 619410 HGNC:28974 "ENST00000216129.7|NM_015140.4" HGNC:32484 TTLL13 tubulin tyrosine ligase like 13 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "FLJ46079|MGC33417" TTLL13P "tubulin tyrosine ligase-like family, member 13|tubulin tyrosine ligase-like family member 13, pseudogene|tubulin tyrosine ligase like 13, pseudogene" Tubulin tyrosine ligase family 779 2006-02-02 2021-09-29 2021-09-29 2023-03-15 440307 ENSG00000213471 OTTHUMG00000177210 BC036668 NM_001396017 CCDS92063 A6NNM8 15890843 MGI:1920845 RGD:1310399 HGNC:32484 "ENST00000641754.2|NM_001396017.1" -HGNC:12403 TTN titin protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "CMPD4|FLJ32040|TMD|CMH9|LGMD2J|MYLK5" CMD1G cardiomyopathy, dilated 1G (autosomal dominant) "Fibronectin type III domain containing|I-set domain containing|Myosin light chain kinase family" "555|593|1668" 1991-06-07 2004-02-13 2023-03-15 7273 ENSG00000155657 OTTHUMG00000154448 uc031rqc.3 X90568 NM_133378 "CCDS54421|CCDS54424|CCDS54422|CCDS59435|CCDS33337|CCDS54423" Q8WZ42 "2129545|10051295" MGI:98864 RGD:621114 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|TTN @ LOVD|http://www.LOVD.nl/TTN|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TTN|LRG_391|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_391.xml" 188840 120326 objectId:2265 HGNC:12403 "ENST00000589042.5|NM_001267550.2" HGNC:12403 +HGNC:12403 TTN titin protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "CMPD4|FLJ32040|TMD|CMH9|LGMD2J|MYLK5" CMD1G cardiomyopathy, dilated 1G (autosomal dominant) "Fibronectin type III domain containing|I-set domain containing|Myosin light chain kinase family" "555|593|1668" 1991-06-07 2004-02-13 2023-03-15 7273 ENSG00000155657 OTTHUMG00000154448 uc031rqc.3 X90568 NM_133378 "CCDS54422|CCDS33337|CCDS54424|CCDS59435|CCDS54423|CCDS54421" Q8WZ42 "2129545|10051295" MGI:98864 RGD:621114 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|TTN @ LOVD|http://www.LOVD.nl/TTN|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TTN|LRG_391|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_391.xml" 188840 120326 objectId:2265 HGNC:12403 "ENST00000589042.5|NM_001267550.2" HGNC:12403 HGNC:44124 TTN-AS1 TTN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.2 02q31.2 TTN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2019-07-12 100506866 ENSG00000237298 OTTHUMG00000133536 uc061qcw.1 BC041357 NR_038272 "29101304|31173403" TTN-AS1 HGNC:44124 HGNC:12404 TTPA alpha tocopherol transfer protein protein-coding gene gene with protein product Approved 8q12.3 08q12.3 AVED "ataxia (Friedreich-like) with vitamin E deficiency|tocopherol (alpha) transfer protein" 1993-07-06 2016-05-23 2023-01-20 7274 ENSG00000137561 OTTHUMG00000164367 uc003xux.3 BC058000 NM_000370 CCDS6178 P49638 "7719340|7887897" MGI:1354168 RGD:3915 600415 120334 HGNC:12404 "ENST00000260116.5|NM_000370.3" HGNC:12404 HGNC:16114 TTPAL alpha tocopherol transfer protein like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ179M20.3 C20orf121 "chromosome 20 open reading frame 121|tocopherol (alpha) transfer protein-like" 2001-07-17 2008-06-23 2016-05-23 2023-01-20 79183 ENSG00000124120 OTTHUMG00000032536 uc002xmd.2 BC003071 NM_024331 CCDS13332 Q9BTX7 MGI:1923330 RGD:1305754 HGNC:16114 "ENST00000262605.9|NM_001039199.3" @@ -41015,20 +41018,20 @@ HGNC:38547 TTTY29P testis-specific transcript, Y-linked 29, pseudogene pseudogen HGNC:38604 TTTY30P testis-specific transcript, Y-linked 30, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-06-29 2010-06-29 2014-11-18 100287844 NG_032208 HGNC:38604 HGNC:38711 TTTY31P testis-specific transcript, Y-linked 31, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-07-22 2014-11-19 100287905 NG_032210 HGNC:38711 HGNC:13476 TTYH1 tweety family member 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "tweety (Drosophila) homolog 1|tweety homolog 1 (Drosophila)" Tweety family 1830 2000-09-28 2013-09-02 2023-01-20 57348 ENSG00000167614 OTTHUMG00000065544 uc002qft.4 AF177909 NM_001005367 "CCDS56102|CCDS33106|CCDS12893" Q9H313 10950931 MGI:1889007 RGD:1310103 605784 HGNC:13476 "ENST00000376530.8|NM_020659.4" -HGNC:13877 TTYH2 tweety family member 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 C17orf29 "tweety (Drosophila) homolog 2|tweety homolog 2 (Drosophila)" Tweety family 1830 2000-11-27 2013-09-02 2023-01-20 94015 ENSG00000141540 OTTHUMG00000166018 uc002jkc.4 NM_001330453 "CCDS45770|CCDS82195|CCDS32717" Q9BSA4 "11597145|18577513" MGI:2157091 RGD:1562969 608855 HGNC:13877 "ENST00000269346.9|NM_032646.6" +HGNC:13877 TTYH2 tweety family member 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 C17orf29 "tweety (Drosophila) homolog 2|tweety homolog 2 (Drosophila)" Tweety family 1830 2000-11-27 2013-09-02 2023-01-20 94015 ENSG00000141540 OTTHUMG00000166018 uc002jkc.4 NM_001330453 "CCDS32717|CCDS45770|CCDS82195" Q9BSA4 "11597145|18577513" MGI:2157091 RGD:1562969 608855 HGNC:13877 "ENST00000269346.9|NM_032646.6" HGNC:22222 TTYH3 tweety family member 3 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 KIAA1691 tweety homolog 3 (Drosophila) Tweety family 1830 2003-12-10 2013-09-02 2023-01-20 80727 ENSG00000136295 OTTHUMG00000152050 uc003smp.4 NM_025250 CCDS34588 Q9C0H2 MGI:1925589 RGD:1309549 608919 HGNC:22222 "ENST00000258796.12|NM_025250.3" -HGNC:12406 TUB TUB bipartite transcription factor protein-coding gene gene with protein product Approved 11p15.4 11p15.4 rd5 "tubby (mouse) homolog|tubby homolog (mouse)|tubby bipartite transcription factor" 1996-10-11 2019-04-11 2023-01-20 7275 ENSG00000166402 OTTHUMG00000165690 uc001mga.4 U54644 NM_003320 "CCDS7787|CCDS7786" P50607 "8612280|28154160" MGI:2651573 RGD:3918 601197 400463 HGNC:12406 "ENST00000299506.3|NM_177972.3" HGNC:12406 +HGNC:12406 TUB TUB bipartite transcription factor protein-coding gene gene with protein product Approved 11p15.4 11p15.4 rd5 "tubby (mouse) homolog|tubby homolog (mouse)|tubby bipartite transcription factor" 1996-10-11 2019-04-11 2023-01-20 7275 ENSG00000166402 OTTHUMG00000165690 uc001mga.4 U54644 NM_003320 "CCDS7786|CCDS7787" P50607 "8612280|28154160" MGI:2651573 RGD:3918 601197 400463 HGNC:12406 "ENST00000299506.3|NM_177972.3" HGNC:12406 HGNC:51120 TUB-AS1 TUB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2014-07-30 2014-07-30 101927917 ENSG00000248332 OTTHUMG00000165692 NR_120537 TUB-AS1 HGNC:51120 HGNC:20766 TUBA1A tubulin alpha 1a protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "TUBA3|B-ALPHA-1|FLJ25113" tubulin, alpha, brain-specific Tubulins 778 2007-01-30 2015-12-11 2023-01-20 7846 ENSG00000167552 OTTHUMG00000169511 uc001rtp.5 AF141347 NM_006009 "CCDS58227|CCDS8781|CCDS58226" Q71U36 "11504633|3839072" MGI:98869 RGD:619717 602529 159394 objectId:2638 HGNC:20766 "ENST00000301071.12|NM_006009.4" HGNC:20766 HGNC:18809 TUBA1B tubulin alpha 1b protein-coding gene gene with protein product Approved 12q13.12 12q13.12 K-ALPHA-1 tubulin, alpha, ubiquitous Tubulins 778 2007-02-12 2015-12-11 2023-01-20 10376 ENSG00000123416 OTTHUMG00000170410 uc001rtm.4 AF081484 NM_006082 CCDS31792 P68363 "12054644|6646120" MGI:107804 RGD:1565476 602530 HGNC:18809 "ENST00000336023.9|NM_006082.3" HGNC:56356 TUBA1B-AS1 TUBA1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 RP11-386G11.10 Antisense RNAs 1987 2022-10-10 2022-10-10 105369760 ENSG00000258017 NR_183484 35798238 -HGNC:20768 TUBA1C tubulin alpha 1c protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "MGC14580|MGC10851|bcm948" TUBA6 tubulin, alpha 6 Tubulins 778 2005-11-02 2007-02-12 2015-12-11 2023-01-20 84790 ENSG00000167553 OTTHUMG00000169497 uc001rtt.2 BC004949 NM_032704 "CCDS8782|CCDS76556" Q9BQE3 7821789 MGI:1095409 RGD:1307226 HGNC:20768 "ENST00000301072.11|NM_032704.5" +HGNC:20768 TUBA1C tubulin alpha 1c protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "MGC14580|MGC10851|bcm948" TUBA6 tubulin, alpha 6 Tubulins 778 2005-11-02 2007-02-12 2015-12-11 2023-01-20 84790 ENSG00000167553 OTTHUMG00000169497 uc001rtt.2 BC004949 NM_032704 "CCDS76556|CCDS8782" Q9BQE3 7821789 MGI:1095409 RGD:1307226 HGNC:20768 "ENST00000301072.11|NM_032704.5" HGNC:12408 TUBA3C tubulin alpha 3c protein-coding gene gene with protein product Approved 13q12.11 13q12.11 bA408E5.3 TUBA2 tubulin, alpha 2 Tubulins 778 1992-09-17 2007-02-12 2015-12-11 2023-01-20 7278 ENSG00000198033 OTTHUMG00000016481 uc009zzj.3 AF005392 NM_006001 CCDS9284 P0DPH7 9465305 "MGI:1095406|MGI:1095408" 602528 HGNC:12408 "ENST00000400113.8|NM_006001.3" HGNC:24071 TUBA3D tubulin alpha 3d protein-coding gene gene with protein product Approved 2q21.1 02q21.1 H2-ALPHA alpha-tubulin isotype H2-alpha Tubulins 778 2007-02-12 2015-12-11 2023-01-20 113457 ENSG00000075886 OTTHUMG00000153600 uc002tsu.5 K03460 NM_080386 CCDS33290 P0DPH8 3785200 "MGI:1095406|MGI:1095408" RGD:1565155 617878 HGNC:24071 "ENST00000321253.7|NM_080386.4" HGNC:20765 TUBA3E tubulin alpha 3e protein-coding gene gene with protein product Approved 2q21.1 02q21.1 Tubulins 778 2007-02-12 2015-12-11 2023-01-20 112714 ENSG00000152086 OTTHUMG00000131626 uc002tqv.4 BC057811 NM_207312 CCDS2158 Q6PEY2 "MGI:1095406|MGI:1095408" RGD:1565719 619918 HGNC:20765 "ENST00000312988.9|NM_207312.3" HGNC:20765 HGNC:24067 TUBA3FP tubulin alpha 3f pseudogene other unknown Approved 22q11.21 22q11.21 Tubulins 778 2012-06-22 2015-12-17 2022-11-23 113691 ENSG00000284130 OTTHUMG00000150876 NR_003608 12477932 PGOHUM00000246251 HGNC:24067 HGNC:44096 TUBA3GP tubulin alpha 3g pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 Tubulins 778 2012-06-28 2015-12-17 2015-12-17 645348 ENSG00000249680 OTTHUMG00000150926 NG_006439 PGOHUM00000246419 HGNC:44096 -HGNC:12407 TUBA4A tubulin alpha 4a protein-coding gene gene with protein product Approved 2q35 02q35 "FLJ30169|H2-ALPHA" TUBA1 "tubulin, alpha 1 (testis specific)|tubulin, alpha 1" Tubulins 778 2001-06-22 2007-02-12 2015-12-11 2023-01-20 7277 ENSG00000127824 OTTHUMG00000133126 uc002vkt.3 AK054731 NM_006000 "CCDS2438|CCDS63131" P68366 3785200 MGI:1095410 RGD:1359623 191110 471270 objectId:2639 HGNC:12407 "ENST00000248437.9|NM_006000.3" HGNC:12407 +HGNC:12407 TUBA4A tubulin alpha 4a protein-coding gene gene with protein product Approved 2q35 02q35 "FLJ30169|H2-ALPHA" TUBA1 "tubulin, alpha 1 (testis specific)|tubulin, alpha 1" Tubulins 778 2001-06-22 2007-02-12 2015-12-11 2023-01-20 7277 ENSG00000127824 OTTHUMG00000133126 uc002vkt.3 AK054731 NM_006000 "CCDS63131|CCDS2438" P68366 3785200 MGI:1095410 RGD:1359623 191110 471270 objectId:2639 HGNC:12407 "ENST00000248437.9|NM_006000.3" HGNC:12407 HGNC:18637 TUBA4B tubulin alpha 4b protein-coding gene gene with protein product Approved 2q35 02q35 FLJ13940 TUBA4 "tubulin, alpha 4|tubulin, alpha 4b (pseudogene)" Tubulins 778 2002-05-14 2007-02-12 2015-12-17 2023-01-20 80086 ENSG00000243910 OTTHUMG00000154516 uc284pqj.1 AK024002 NM_001355221 CCDS86922 Q9H853 "3785200|22360420" HGNC:18637 "ENST00000490341.3|NM_001355221.1" HGNC:54799 TUBA5P tubulin alpha 5, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 RP11-480I12.5 TUBAP5 tubulin alpha pseudogene 5 2020-01-10 2020-04-02 2020-04-02 2020-04-02 730222 ENSG00000214796 NG_022750 31897160 HGNC:12410 TUBA8 tubulin alpha 8 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 TUBAL2 Tubulins 778 1999-10-29 2015-12-11 2023-01-20 51807 ENSG00000183785 OTTHUMG00000150097 uc002znv.3 AJ245922 NM_018943 "CCDS54495|CCDS13751" Q9NY65 "10772959|10591208" MGI:1858225 RGD:1566041 605742 260889 HGNC:12410 "ENST00000330423.8|NM_018943.3" HGNC:12410 @@ -41047,14 +41050,14 @@ HGNC:54879 TUBAP12 tubulin alpha pseudogene 12 pseudogene pseudogene Approved 15 HGNC:54880 TUBAP13 tubulin alpha pseudogene 13 pseudogene pseudogene Approved 2q23.3 02q23.3 2020-04-03 2020-04-03 642635 ENSG00000242575 OTTHUMG00000153825 NG_021528 PGOHUM00000298192 HGNC:54881 TUBAP14 tubulin alpha pseudogene 14 pseudogene pseudogene Approved 5p12 05p12 2020-04-03 2020-04-03 100419036 ENSG00000247763 OTTHUMG00000162228 NG_024593 PGOHUM00000300574 HGNC:54882 TUBAP15 tubulin alpha pseudogene 15 pseudogene pseudogene Approved 5q23.1 05q23.1 2020-04-03 2020-04-03 117751739 ENSG00000250895 OTTHUMG00000162945 NG_084016 PGOHUM00000300730 -HGNC:20778 TUBB tubulin beta class I protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "OK/SW-cl.56|MGC16435|M40|Tubb5" "class I beta-tubulin|beta1-tubulin" "tubulin, beta polypeptide|tubulin, beta|tubulin, beta class I" Tubulins 778 2004-11-22 2015-12-17 2023-01-20 203068 ENSG00000196230 OTTHUMG00000031059 uc063yon.1 AB062393 NM_178014 "CCDS4687|CCDS78124" P07437 "11504633|8270253" MGI:107812 RGD:628596 191130 448353 objectId:2640 HGNC:20778 "ENST00000327892.13|NM_178014.4" HGNC:20778 +HGNC:20778 TUBB tubulin beta class I protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "OK/SW-cl.56|MGC16435|M40|Tubb5" "class I beta-tubulin|beta1-tubulin" "tubulin, beta polypeptide|tubulin, beta|tubulin, beta class I" Tubulins 778 2004-11-22 2015-12-17 2023-01-20 203068 ENSG00000196230 OTTHUMG00000031059 uc063yon.1 AB062393 NM_178014 "CCDS78124|CCDS4687" P07437 "11504633|8270253" MGI:107812 RGD:628596 191130 448353 objectId:2640 HGNC:20778 "ENST00000327892.13|NM_178014.4" HGNC:20778 HGNC:16257 TUBB1 tubulin beta 1 class VI protein-coding gene gene with protein product Approved 20q13.32 20q13.32 dJ543J19.4 class VI beta-tubulin tubulin, beta 1 Tubulins 778 2001-07-17 2015-12-17 2023-01-20 81027 ENSG00000101162 OTTHUMG00000032860 uc002yak.3 AJ292757 NM_030773 CCDS13475 Q9H4B7 MGI:107814 RGD:1589557 LRG_581|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_581.xml 612901 280099 HGNC:16257 "ENST00000217133.2|NM_030773.4" HGNC:16257 HGNC:23982 TUBB1P1 tubulin beta 1 class VI pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 "tubulin, beta 1 pseudogene 1|tubulin, beta 1 class VI pseudogene 1" 2010-02-17 2015-12-17 2015-12-17 349448 ENSG00000249726 OTTHUMG00000041971 NG_002948 "11731935|12815422" PGOHUM00000305687 HGNC:23982 HGNC:23981 TUBB1P2 tubulin beta 1 class VI pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 "tubulin, beta 1 pseudogene 2|tubulin, beta 1 class VI pseudogene 2" 2010-02-17 2015-12-17 2016-10-05 140004 ENSG00000228578 OTTHUMG00000036414 NG_002947 12815422 PGOHUM00000305489 HGNC:23981 HGNC:12412 TUBB2A tubulin beta 2A class IIa protein-coding gene gene with protein product Approved 6p25.2 06p25.2 dJ40E16.7 class IIa beta-tubulin "TUBB|TUBB2" "tubulin, beta polypeptide|tubulin, beta 2|tubulin, beta 2A" Tubulins 778 2001-06-22 2005-11-03 2015-12-17 2023-01-20 7280 ENSG00000137267 OTTHUMG00000014135 uc003mvc.5 AY159127 NM_001069 CCDS4484 Q13885 14574404 MGI:107861 RGD:1588452 615101 471272 HGNC:12412 "ENST00000333628.4|NM_001069.3" HGNC:12412 HGNC:30829 TUBB2B tubulin beta 2B class IIb protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "MGC8685|DKFZp566F223|bA506K6.1" class IIb beta-tubulin tubulin, beta 2B Tubulins 778 2005-11-03 2015-12-17 2023-01-20 347733 ENSG00000137285 OTTHUMG00000014143 uc003mvg.4 BC001352 NM_178012 CCDS4485 Q9BVA1 "8619474|9110174" MGI:1920960 RGD:1309427 612850 201538 HGNC:30829 "ENST00000259818.8|NM_178012.5" HGNC:30829 HGNC:42332 TUBB2BP1 tubulin beta 2B class IIb pseudogene 1 pseudogene pseudogene Approved 6p25.2 06p25.2 2013-01-23 2015-12-17 2015-12-17 100132153 ENSG00000216819 OTTHUMG00000014136 NG_022291 PGOHUM00000243043 HGNC:42332 -HGNC:20772 TUBB3 tubulin beta 3 class III protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "beta-4|CFEOM3|CFEOM3A" class III beta-tubulin FEOM3 "tubulin, beta 3|fibrosis of extraocular muscles, congenital, 3" Tubulins 778 2004-11-22 2015-12-17 2023-01-20 10381 ENSG00000258947 OTTHUMG00000138985 uc002fph.2 BC000748 NM_006086 "CCDS10988|CCDS56012" Q13509 "9473684|8098743|20074521" MGI:107813 RGD:628595 602661 226013 objectId:2752 HGNC:20772 "ENST00000315491.12|NM_006086.4" HGNC:20772 +HGNC:20772 TUBB3 tubulin beta 3 class III protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "beta-4|CFEOM3|CFEOM3A" class III beta-tubulin FEOM3 "tubulin, beta 3|fibrosis of extraocular muscles, congenital, 3" Tubulins 778 2004-11-22 2015-12-17 2023-01-20 10381 ENSG00000258947 OTTHUMG00000138985 uc002fph.2 BC000748 NM_006086 "CCDS56012|CCDS10988" Q13509 "9473684|8098743|20074521" MGI:107813 RGD:628595 602661 226013 objectId:2752 HGNC:20772 "ENST00000315491.12|NM_006086.4" HGNC:20772 HGNC:42339 TUBB3P1 tubulin beta 3 class III pseudogene 1 pseudogene pseudogene Approved 6q15 06q15 2013-01-23 2015-12-17 2015-12-17 100288513 ENSG00000220418 OTTHUMG00000015197 NG_022360 PGOHUM00000260185 HGNC:42339 HGNC:42181 TUBB3P2 tubulin beta 3 class III pseudogene 2 pseudogene pseudogene Approved 7q33 07q33 tubulin, beta 3 class III pseudogene 2 2013-01-23 2015-12-17 2015-12-17 100130187 ENSG00000230101 OTTHUMG00000155458 NG_032092 PGOHUM00000233003 HGNC:42181 HGNC:20774 TUBB4A tubulin beta 4A class IVa protein-coding gene gene with protein product Approved 19p13.3 19p13.3 beta-5 class IVa beta-tubulin "TUBB4|DYT4" "tubulin, beta 4|tubulin, beta 4 class IVa|dystonia 4, torsion (autosomal dominant)" Tubulins 778 2004-11-22 2011-10-10 2015-12-17 2023-01-20 10382 ENSG00000104833 OTTHUMG00000181829 uc002mfg.2 AK075307 NM_006087 CCDS12168 P04350 "6865944|6462917|23595291" MGI:107848 RGD:619730 602662 306172 HGNC:20774 "ENST00000264071.7|NM_006087.4" HGNC:20774 @@ -41068,7 +41071,7 @@ HGNC:42335 TUBB4BP5 TUBB4B pseudogene 5 pseudogene pseudogene Approved 4q27 04q2 HGNC:42336 TUBB4BP6 TUBB4B pseudogene 6 pseudogene pseudogene Approved 9q33.1 09q33.1 "tubulin, beta 4B class IVb pseudogene 6|tubulin beta 4B class IVb pseudogene 6" 2013-01-23 2013-01-28 2020-05-22 2020-05-22 100996306 ENSG00000231166 OTTHUMG00000020568 PGOHUM00000236762 HGNC:42337 TUBB4BP7 TUBB4B pseudogene 7 pseudogene pseudogene Approved 6q25.2 06q25.2 "tubulin, beta 4B class IVb pseudogene 7|tubulin beta 4B class IVb pseudogene 7" 2013-01-23 2020-05-22 2020-05-22 442271 ENSG00000217372 OTTHUMG00000015853 NG_022377 PGOHUM00000243825 HGNC:42337 HGNC:55021 TUBB4BP8 TUBB4B pseudogene 8 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-22 2020-05-22 643371 ENSG00000227521 NG_023207 -HGNC:20776 TUBB6 tubulin beta 6 class V protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "MGC4083|HsT1601" "tubulin beta MGC4083|class V beta-tubulin" "tubulin, beta 6|tubulin, beta 6 class V" Tubulins 778 2004-11-22 2015-12-17 2023-01-20 84617 ENSG00000176014 OTTHUMG00000131692 uc060nnc.1 AK001295 NM_032525 "CCDS11858|CCDS77153" Q9BUF5 29016863 MGI:1915201 RGD:1305887 615103 HGNC:20776 "ENST00000317702.10|NM_032525.3" +HGNC:20776 TUBB6 tubulin beta 6 class V protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "MGC4083|HsT1601" "tubulin beta MGC4083|class V beta-tubulin" "tubulin, beta 6|tubulin, beta 6 class V" Tubulins 778 2004-11-22 2015-12-17 2023-01-20 84617 ENSG00000176014 OTTHUMG00000131692 uc060nnc.1 AK001295 NM_032525 "CCDS77153|CCDS11858" Q9BUF5 29016863 MGI:1915201 RGD:1305887 615103 HGNC:20776 "ENST00000317702.10|NM_032525.3" HGNC:42342 TUBB6P1 tubulin beta 6 class V pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 tubulin, beta 6 class V pseudogene 1 2013-01-23 2015-12-17 2015-12-17 100418964 NG_026927 PGOHUM00000243972 HGNC:42342 HGNC:12413 TUBB7P tubulin beta 7 pseudogene pseudogene pseudogene Approved 4q35.2 04q35.2 TUBB4Q "tubulin, beta polypeptide 4, member Q|tubulin, beta polypeptide 4, member Q, pseudogene|tubulin, beta 7, pseudogene" Tubulins 778 2000-08-24 2011-10-10 2015-12-17 2023-03-15 56604 ENSG00000251297 OTTHUMG00000161002 U83110 NG_029424 10828619 PGOHUM00000306576 HGNC:12413 HGNC:20773 TUBB8 tubulin beta 8 class VIII protein-coding gene gene with protein product Approved 10p15.3 10p15.3 bA631M21.2 class VIII beta-tubulin tubulin, beta 8 class VIII Tubulins 778 2011-10-10 2015-12-17 2023-01-20 347688 ENSG00000261456 OTTHUMG00000174803 uc001ifi.3 AF355127 NM_177987 CCDS7051 Q3ZCM7 616768 objectId:2753 HGNC:20773 "ENST00000568584.6|NM_177987.3" HGNC:20773 @@ -41095,36 +41098,36 @@ HGNC:42179 TUBBP8 tubulin beta class I pseudogene 8 pseudogene pseudogene Approv HGNC:42178 TUBBP9 tubulin beta class I pseudogene 9 pseudogene pseudogene Approved 6p21.2 06p21.2 tubulin, beta class I pseudogene 9 2013-01-23 2015-12-17 2015-12-17 442210 ENSG00000220586 OTTHUMG00000014655 NG_028263 HGNC:42178 HGNC:42344 TUBBP10 tubulin beta class I pseudogene 10 pseudogene pseudogene Approved 1p32.3 01p32.3 tubulin, beta class I pseudogene 10 2013-01-23 2015-12-17 2015-12-17 100418902 ENSG00000226147 OTTHUMG00000008919 NG_027095 HGNC:42344 HGNC:42184 TUBBP11 tubulin beta class I pseudogene 11 pseudogene pseudogene Approved 3q13.11 03q13.11 tubulin, beta class I pseudogene 11 2013-01-23 2015-12-17 2015-12-17 106480745 ENSG00000243195 OTTHUMG00000159180 NG_043757 PGOHUM00000238121 HGNC:42184 -HGNC:16811 TUBD1 tubulin delta 1 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "FLJ12709|TUBD" tubulin, delta 1 Tubulins 778 2004-04-20 2015-12-17 2023-01-20 51174 ENSG00000108423 OTTHUMG00000179885 uc002ixw.3 AF201333 NM_016261 "CCDS54152|CCDS54153|CCDS54154|CCDS54151|CCDS11620" Q9UJT1 10620804 MGI:1891826 RGD:1311967 607344 HGNC:16811 "ENST00000325752.8|NM_016261.4" +HGNC:16811 TUBD1 tubulin delta 1 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "FLJ12709|TUBD" tubulin, delta 1 Tubulins 778 2004-04-20 2015-12-17 2023-01-20 51174 ENSG00000108423 OTTHUMG00000179885 uc002ixw.3 AF201333 NM_016261 "CCDS54153|CCDS54152|CCDS54151|CCDS11620|CCDS54154" Q9UJT1 10620804 MGI:1891826 RGD:1311967 607344 HGNC:16811 "ENST00000325752.8|NM_016261.4" HGNC:20775 TUBE1 tubulin epsilon 1 protein-coding gene gene with protein product Approved 6q21 06q21 "dJ142L7.2|FLJ22589|TUBE" tubulin, epsilon 1 Tubulins 778 2003-05-22 2015-12-17 2023-01-20 51175 ENSG00000074935 OTTHUMG00000015382 uc003pvq.4 AF201334 NM_016262 CCDS5100 Q9UJT0 10620804 MGI:1919174 RGD:1306048 607345 471274 HGNC:20775 "ENST00000368662.10|NM_016262.5" HGNC:12417 TUBG1 tubulin gamma 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 TUBGCP1 TUBG "tubulin, gamma polypeptide|tubulin, gamma 1" Tubulins 778 2000-01-20 2015-12-17 2023-01-20 7283 ENSG00000131462 OTTHUMG00000180277 uc002ian.4 BC000619 NM_001070 CCDS11433 P23258 1904010 MGI:101834 RGD:628606 191135 471276 HGNC:12417 "ENST00000251413.8|NM_001070.5" HGNC:12417 HGNC:12418 TUBG1P tubulin gamma 1 pseudogene pseudogene pseudogene Approved 7p13 07p13 tubulin, gamma 1 pseudogene 2000-01-20 2015-12-17 2015-12-17 442673 ENSG00000237972 OTTHUMG00000155247 AC004985 NG_009488 10903841 HGNC:12418 HGNC:12419 TUBG2 tubulin gamma 2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 tubulin, gamma 2 Tubulins 778 2000-01-20 2015-12-17 2023-01-20 27175 ENSG00000037042 OTTHUMG00000180640 uc010wgr.3 AF225971 NM_016437 CCDS32658 Q9NRH3 MGI:2144208 RGD:1585798 605785 HGNC:12419 "ENST00000251412.8|NM_016437.3" -HGNC:18599 TUBGCP2 tubulin gamma complex associated protein 2 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "GCP2|Spc97p|SPBC97|hGCP2|ALP4" tubulin, gamma complex associated protein 2 Tubulin gamma complex associated protein family 2224 2002-08-14 2015-12-17 2023-01-20 10844 ENSG00000130640 OTTHUMG00000019319 uc001lmg.2 AF042379 NM_001256617 "CCDS7676|CCDS58105|CCDS58104" Q9BSJ2 "9566967|31630790" MGI:1921487 RGD:1309597 617817 HGNC:18599 "ENST00000252936.8|NM_006659.4" HGNC:18599 -HGNC:18598 TUBGCP3 tubulin gamma complex associated protein 3 protein-coding gene gene with protein product Approved 13q34 13q34 "GCP3|Spc98p|SPBC98" spindle pole body protein tubulin, gamma complex associated protein 3 Tubulin gamma complex associated protein family 2224 2002-08-14 2015-12-17 2023-01-20 10426 ENSG00000126216 OTTHUMG00000017367 uc001vse.3 AF042378 NM_006322 "CCDS73599|CCDS66584|CCDS9525" Q96CW5 "9566967|9566969" MGI:2183752 RGD:1305726 617818 HGNC:18598 "ENST00000261965.8|NM_006322.6" -HGNC:16691 TUBGCP4 tubulin gamma complex associated protein 4 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "76P|FLJ14797" tubulin, gamma complex associated protein 4 Tubulin gamma complex associated protein family 2224 2007-08-20 2015-12-17 2023-01-20 27229 ENSG00000137822 OTTHUMG00000176647 uc001zrn.5 AJ249677 NM_014444 "CCDS42030|CCDS66745" Q9UGJ1 10562286 MGI:1196293 RGD:1306924 609610 426086 HGNC:16691 "ENST00000564079.6|NM_014444.5" HGNC:16691 -HGNC:18600 TUBGCP5 tubulin gamma complex associated protein 5 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "GCP5|KIAA1899" gamma-tubulin complex component GCP5 tubulin, gamma complex associated protein 5 Tubulin gamma complex associated protein family 2224 2002-08-14 2015-12-17 2023-01-20 114791 ENSG00000275835 OTTHUMG00000188371 uc001yur.5 AB067486 NM_052903 "CCDS73697|CCDS73698" Q96RT8 11694571 MGI:2178836 RGD:1304689 608147 HGNC:18600 "ENST00000615383.5|NM_052903.6" -HGNC:18127 TUBGCP6 tubulin gamma complex associated protein 6 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "GCP6|KIAA1669|DJ402G11.6" gamma-tubulin complex component 6 tubulin, gamma complex associated protein 6 Tubulin gamma complex associated protein family 2224 2002-08-14 2015-12-17 2023-01-20 85378 ENSG00000128159 OTTHUMG00000030150 uc003bkb.2 AB051456 NM_020461 CCDS14087 Q96RT7 "11694571|11258795" MGI:2146071 RGD:1307743 610053 304005 HGNC:18127 "ENST00000248846.10|NM_020461.4" HGNC:18127 +HGNC:18599 TUBGCP2 tubulin gamma complex component 2 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "GCP2|Spc97p|SPBC97|hGCP2|ALP4" spindle pole body protein Spc97 homolog "tubulin, gamma complex associated protein 2|tubulin gamma complex associated protein 2" Tubulin gamma complex component family 2224 2002-08-14 2023-06-15 2023-06-16 10844 ENSG00000130640 OTTHUMG00000019319 uc001lmg.2 AF042379 NM_001256617 "CCDS58105|CCDS58104|CCDS7676" Q9BSJ2 "9566967|31630790" MGI:1921487 RGD:1309597 617817 HGNC:18599 "ENST00000252936.8|NM_006659.4" HGNC:18599 +HGNC:18598 TUBGCP3 tubulin gamma complex component 3 protein-coding gene gene with protein product Approved 13q34 13q34 "GCP3|Spc98p|SPBC98" spindle pole body protein "tubulin, gamma complex associated protein 3|tubulin gamma complex associated protein 3" Tubulin gamma complex component family 2224 2002-08-14 2023-06-15 2023-06-15 10426 ENSG00000126216 OTTHUMG00000017367 uc001vse.3 AF042378 NM_006322 "CCDS73599|CCDS66584|CCDS9525" Q96CW5 "9566967|9566969" MGI:2183752 RGD:1305726 617818 HGNC:18598 "ENST00000261965.8|NM_006322.6" +HGNC:16691 TUBGCP4 tubulin gamma complex component 4 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "76P|FLJ14797|GCP4" "gamma-tubulin complex protein 4|gamma-ring complex protein 76 kDa" "tubulin, gamma complex associated protein 4|tubulin gamma complex associated protein 4" Tubulin gamma complex component family 2224 2007-08-20 2023-06-15 2023-06-15 27229 ENSG00000137822 OTTHUMG00000176647 uc001zrn.5 AJ249677 NM_014444 "CCDS42030|CCDS66745" Q9UGJ1 "10562286|25817018" MGI:1196293 RGD:1306924 609610 426086 HGNC:16691 "ENST00000564079.6|NM_014444.5" HGNC:16691 +HGNC:18600 TUBGCP5 tubulin gamma complex component 5 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "GCP5|KIAA1899" gamma-tubulin complex component GCP5 "tubulin, gamma complex associated protein 5|tubulin gamma complex associated protein 5" Tubulin gamma complex component family 2224 2002-08-14 2023-06-15 2023-06-15 114791 ENSG00000275835 OTTHUMG00000188371 uc001yur.5 AB067486 NM_052903 "CCDS73697|CCDS73698" Q96RT8 11694571 MGI:2178836 RGD:1304689 608147 HGNC:18600 "ENST00000615383.5|NM_052903.6" +HGNC:18127 TUBGCP6 tubulin gamma complex component 6 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "GCP6|KIAA1669|DJ402G11.6" gamma-tubulin complex component 6 "tubulin, gamma complex associated protein 6|tubulin gamma complex associated protein 6" Tubulin gamma complex component family 2224 2002-08-14 2023-06-15 2023-06-15 85378 ENSG00000128159 OTTHUMG00000030150 uc003bkb.2 AB051456 NM_020461 CCDS14087 Q96RT7 "11694571|11258795" MGI:2146071 RGD:1307743 610053 304005 HGNC:18127 "ENST00000248846.10|NM_020461.4" HGNC:18127 HGNC:12420 TUFM Tu translation elongation factor, mitochondrial protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "EFTu|EF-TuMT|EFTU" MicroRNA protein coding host genes 1691 1997-04-10 2023-01-20 7284 ENSG00000178952 OTTHUMG00000097039 uc002drh.2 L38995 NM_003321 CCDS10642 P49411 "9332382|9545647" MGI:1923686 RGD:1305501 602389 267235 HGNC:12420 "ENST00000313511.8|NM_003321.5" HGNC:12420 HGNC:12421 TUFMP1 Tu translation elongation factor, mitochondrial pseudogene 1 pseudogene pseudogene Approved 17q11.1 17q11.1 TUFML Tu translation elongation factor, mitochondrial-like 1997-04-10 2010-10-26 2010-10-26 2017-10-25 645668 ENSG00000265646 OTTHUMG00000179167 Y11796 NG_006578 9545647 PGOHUM00000294022 HGNC:12421 HGNC:12422 TUFT1 tuftelin 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MicroRNA protein coding host genes 1691 1993-08-24 2023-01-20 7286 ENSG00000143367 OTTHUMG00000012536 uc001eyl.3 AF254260 NM_020127 "CCDS1000|CCDS44223" Q9NNX1 7919663 MGI:109572 RGD:1310373 600087 HGNC:12422 "ENST00000368849.8|NM_020127.3" HGNC:26066 TUG1 taurine up-regulated 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "FLJ20618|NCRNA00080|LINC00080" "non-protein coding RNA 80|long intergenic non-protein coding RNA 80" "taurine upregulated 1 (non-protein coding)|taurine up-regulated 1 (non-protein coding)" 2008-09-02 2018-05-16 2023-03-15 55000 ENSG00000253352 OTTHUMG00000030444 uc003ajh.4 AK057695 NM_001396518 CCDS93148 A0A6I8PU40 "15797018|32894169" MGI:2144114 RGD:9685395 614971 tug1 TUG1 HGNC:26066 -HGNC:12423 TULP1 TUB like protein 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "TUBL1|LCA15" RP14 tubby like protein 1 1998-01-06 2019-04-11 2023-01-20 7287 ENSG00000112041 OTTHUMG00000014575 uc003okv.6 U82468 NM_001289395 "CCDS4807|CCDS75436" O00294 "9096357|9521870" MGI:109571 RGD:1311062 Mutations of the Tubby-like Protein 1 Gene|http://www.retina-international.org/files/sci-news/tulpmut.htm 602280 120341 HGNC:12423 "ENST00000229771.11|NM_003322.6" HGNC:12423 +HGNC:12423 TULP1 TUB like protein 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "TUBL1|LCA15" RP14 tubby like protein 1 1998-01-06 2019-04-11 2023-01-20 7287 ENSG00000112041 OTTHUMG00000014575 uc003okv.6 U82468 NM_001289395 "CCDS75436|CCDS4807" O00294 "9096357|9521870" MGI:109571 RGD:1311062 Mutations of the Tubby-like Protein 1 Gene|http://www.retina-international.org/files/sci-news/tulpmut.htm 602280 120341 HGNC:12423 "ENST00000229771.11|NM_003322.6" HGNC:12423 HGNC:12424 TULP2 TUB like protein 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "TUBL2|CT65" cancer/testis antigen 65 tubby like protein 2 1998-01-06 2019-04-11 2023-01-20 7288 ENSG00000104804 OTTHUMG00000164406 uc002pkz.3 U82469 NM_003323 CCDS12739 O00295 9096357 MGI:1861600 RGD:1310551 602309 HGNC:12424 "ENST00000221399.8|NM_003323.3" HGNC:12425 TULP3 TUB like protein 3 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 TUBL3 tubby like protein 3 1998-05-11 2019-04-11 2023-01-20 7289 ENSG00000078246 OTTHUMG00000168152 uc010seh.2 AF045583 NM_003324 "CCDS53737|CCDS8519" O75386 9828123 MGI:1329045 RGD:1585259 604730 471278 HGNC:12425 "ENST00000448120.7|NM_003324.5" HGNC:12425 HGNC:39262 TULP3P1 TUB like protein 3 pseudogene 1 pseudogene pseudogene Approved 13q32.1 13q32.1 tubby like protein 3 pseudogene 1 2010-11-24 2019-04-11 2019-04-11 100128017 ENSG00000234267 OTTHUMG00000017234 NG_011427 PGOHUM00000292034 HGNC:39262 -HGNC:15530 TULP4 TUB like protein 4 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "TUSP|KIAA1397" tubby like protein 4 WD repeat domain containing 362 2003-05-28 2019-04-11 2023-01-20 56995 ENSG00000130338 OTTHUMG00000015910 uc003qrf.4 NM_020245 "CCDS34562|CCDS34561" Q9NRJ4 11595174 MGI:1916092 RGD:1564487 619442 HGNC:15530 "ENST00000367097.8|NM_020245.5" +HGNC:15530 TULP4 TUB like protein 4 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "TUSP|KIAA1397" tubby like protein 4 WD repeat domain containing 362 2003-05-28 2019-04-11 2023-01-20 56995 ENSG00000130338 OTTHUMG00000015910 uc003qrf.4 NM_020245 "CCDS34561|CCDS34562" Q9NRJ4 11595174 MGI:1916092 RGD:1564487 619442 HGNC:15530 "ENST00000367097.8|NM_020245.5" HGNC:44088 TUNAR TCL1 upstream neural differentiation-associated RNA non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 "TUNA|HI-LNC78|BNLN" "Tcl1 upstream neuron-associated lincRNA|Human Islet Long Non Coding RNA 78|beta cell- and neural cell-regulin" LINC00617 "long intergenic non-protein coding RNA 617|TCL1A upstream neural differentiation-associated RNA" Long non-coding RNAs with non-systematic symbols 1992 2012-06-20 2014-02-18 2014-03-04 2022-12-23 100507043 ENSG00000250366 OTTHUMG00000171392 AK023027 NR_038861 A0A1B0GTB2 "24530304|22196729|23040067|34513312|35036403" MGI:1917202 615719 TUNAR HGNC:44088 HGNC:31010 TUSC1 tumor suppressor candidate 1 protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "TSG-9|CCDC89B" 2004-08-25 2023-01-20 286319 ENSG00000198680 OTTHUMG00000159591 uc003zpx.4 AY168647 NM_001004125 CCDS34999 Q2TAM9 15208665 MGI:2684283 RGD:41074883 610529 HGNC:31010 "ENST00000358022.6|NM_001004125.3" HGNC:17034 TUSC2 tumor suppressor 2, mitochondrial calcium regulator protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FUS1|PAP|C3orf11" PDAP2 "PDGFA associated protein 2|tumor suppressor candidate 2" 2003-09-25 2004-01-21 2018-02-23 2023-01-20 11334 ENSG00000114383 OTTHUMG00000156877 uc003czy.2 AF055479 NM_007275 CCDS2819 O75896 "8780057|11593436" MGI:1931086 RGD:1561664 607052 HGNC:17034 "ENST00000232496.5|NM_007275.3" HGNC:23963 TUSC2P1 TUSC2 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 TUSC2P "tumor suppressor candidate 2 pseudogene|tumor suppressor candidate 2 pseudogene 1" 2009-10-22 2010-02-26 2018-02-23 2018-11-05 359794 ENSG00000285470 OTTHUMG00000192471 NG_002812 "12815422|24394498" HGNC:23963 HGNC:53818 TUSC2P2 TUSC2 pseudogene 2 pseudogene pseudogene Approved Xq21.32 Xq21.32 2018-02-23 2018-10-03 112552163 ENSG00000285445 OTTHUMG00000192470 NG_059297 HGNC:53818 -HGNC:30242 TUSC3 tumor suppressor candidate 3 protein-coding gene gene with protein product Approved 8p22 08p22 "MGC13453|N33|OST3A|MRT7|MagT2|SLC58A2" "oligosaccharyltransferase 3 homolog A (S. cerevisiae)|Magnesium uptake/transporter TUSC3" MRT22 mental retardation, non-syndromic, autosomal recessive, 22 "Oligosaccharyltransferase complex subunits|Solute carrier family 58" "445|2207" 2004-01-20 2023-03-14 7991 ENSG00000104723 OTTHUMG00000094803 uc003wwt.4 AK026149 NM_006765 "CCDS5994|CCDS5993" Q13454 "8661104|10097140" MGI:1933134 RGD:1303318 601385 SLC58A2 159945 objectId:3040 HGNC:30242 "ENST00000503731.6|NM_006765.4" HGNC:30242 +HGNC:30242 TUSC3 tumor suppressor candidate 3 protein-coding gene gene with protein product Approved 8p22 08p22 "MGC13453|N33|OST3A|MRT7|MagT2|SLC58A2" "oligosaccharyltransferase 3 homolog A (S. cerevisiae)|Magnesium uptake/transporter TUSC3" MRT22 mental retardation, non-syndromic, autosomal recessive, 22 "Oligosaccharyltransferase complex subunits|Solute carrier family 58" "445|2207" 2004-01-20 2023-03-14 7991 ENSG00000104723 OTTHUMG00000094803 uc003wwt.4 AK026149 NM_006765 "CCDS5993|CCDS5994" Q13454 "8661104|10097140" MGI:1933134 RGD:1303318 601385 SLC58A2 159945 objectId:3040 HGNC:30242 "ENST00000503731.6|NM_006765.4" HGNC:30242 HGNC:27701 TUSC7 tumor suppressor candidate 7 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 "LINC00902|LOC285194" "NCRNA00295|LSAMP-AS3" "non-protein coding RNA 295|LSAMP antisense RNA 3|tumor suppressor candidate 7 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2010-11-18 2013-05-21 2018-05-16 2018-05-16 285194 ENSG00000243197 OTTHUMG00000159329 BC035185 NR_015391 "20048075|23680400|28214867" 616057 tusc7 TUSC7 HGNC:27701 HGNC:49111 TUSC8 tumor suppressor candidate 8 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 XLOC_010588 LINC01071 "long intergenic non-protein coding RNA 1071|tumor suppressor candidate 8 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-09-05 2014-03-31 2018-05-16 2018-05-16 400128 ENSG00000237361 OTTHUMG00000016834 BC025370 NR_104174 24667250 TUSC8 HGNC:49111 HGNC:26184 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FLJ22347|FLJ22267|FLJ21850|PAPD2|TUTase|TENT1" "RNA uridylyltransferase|U6 TUTase|TUTase 6" RBM21 RNA binding motif protein 21 "RNA binding motif containing|Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "725|1318|1619" 2004-04-07 2006-10-06 2006-10-06 2023-01-20 64852 ENSG00000149016 OTTHUMG00000158564 uc001nto.2 BC005013 NM_022830 CCDS8021 Q9H6E5 16790842 MGI:1917294 RGD:1561043 610641 "2.7.7.52|2.7.7.19" HGNC:26184 "ENST00000476907.6|NM_022830.3" HGNC:28981 TUT4 terminal uridylyl transferase 4 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "KIAA0191|PAPD3|TENT3A" TUTase4 ZCCHC11 zinc finger CCHC-type containing 11 "Zinc fingers CCHC-type|Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "74|1318|1619" 2004-04-07 2018-04-20 2018-04-20 2023-03-15 23318 ENSG00000134744 OTTHUMG00000008200 uc001cty.3 D83776 NM_001009881 "CCDS30716|CCDS30715" Q5TAX3 "8724849|12239557" MGI:2445126 RGD:1310138 613692 HGNC:28981 "ENST00000257177.9|NM_001009881.3" -HGNC:25817 TUT7 terminal uridylyl transferase 7 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "KIAA1711|FLJ13409|PAPD6|TENT3B" TUTase7 ZCCHC6 zinc finger CCHC-type containing 6 "Zinc fingers CCHC-type|Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "74|1318|1619" 2004-01-05 2018-04-20 2018-04-20 2023-01-20 79670 ENSG00000083223 OTTHUMG00000020137 uc004aoq.4 AL832026 NM_024617 "CCDS55323|CCDS35057|CCDS83383" Q5VYS8 11214970 MGI:2387179 RGD:1586015 613467 HGNC:25817 "ENST00000375963.8|NM_024617.4" +HGNC:25817 TUT7 terminal uridylyl transferase 7 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "KIAA1711|FLJ13409|PAPD6|TENT3B" TUTase7 ZCCHC6 zinc finger CCHC-type containing 6 "Zinc fingers CCHC-type|Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "74|1318|1619" 2004-01-05 2018-04-20 2018-04-20 2023-01-20 79670 ENSG00000083223 OTTHUMG00000020137 uc004aoq.4 AL832026 NM_024617 "CCDS35057|CCDS55323|CCDS83383" Q5VYS8 11214970 MGI:2387179 RGD:1586015 613467 HGNC:25817 "ENST00000375963.8|NM_024617.4" HGNC:20398 TVP23A trans-golgi network vesicle protein 23 homolog A protein-coding gene gene with protein product Approved 16p13.13 16p13.13 YDR084C FAM18A "family with sequence similarity 18, member A|trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)" 2003-04-03 2012-11-29 2016-03-31 2023-01-20 780776 ENSG00000166676 OTTHUMG00000177389 uc059qtc.1 NM_001079512 CCDS45408 A6NH52 MGI:3665441 RGD:1566405 HGNC:20398 "ENST00000299866.13|NM_001079512.4" HGNC:20399 TVP23B trans-golgi network vesicle protein 23 homolog B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "CGI-148|YDR084C" "FAM18B|FAM18B1" "family with sequence similarity 18, member B|family with sequence similarity 18, member B1|trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)" 2003-04-03 2012-11-29 2016-09-29 2023-01-20 51030 ENSG00000171928 OTTHUMG00000059052 uc002gum.3 AF151906 NM_016078 "CCDS42274|CCDS82084" Q9NYZ1 10810093 MGI:1914760 RGD:1586539 HGNC:20399 "ENST00000307767.13|NM_016078.6" HGNC:31127 TVP23BP1 TVP23B pseudogene 1 pseudogene pseudogene Approved 15q12 15q12 FAM18B3P "family with sequence similarity 18, member B3, pseudogene|trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) pseudogene 1" 2010-08-18 2012-11-29 2013-10-18 2016-07-25 100129124 ENSG00000259122 OTTHUMG00000171825 NG_022121 PGOHUM00000293145 HGNC:31127 @@ -41134,14 +41137,14 @@ HGNC:42961 TVP23C-CDRT4 TVP23C-CDRT4 readthrough other readthrough Approved 17p1 HGNC:44646 TVP23CP1 TVP23C pseudogene 1 pseudogene pseudogene Approved 7q21.13 07q21.13 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) pseudogene 1 2012-11-29 2013-10-18 2013-10-18 100421599 ENSG00000223584 OTTHUMG00000033493 NG_026605 PGOHUM00000233467 HGNC:44646 HGNC:44647 TVP23CP2 TVP23C pseudogene 2 pseudogene pseudogene Approved 16p13.12 16p13.12 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) pseudogene 2 2012-11-29 2013-10-18 2013-10-18 261735 ENSG00000262470 OTTHUMG00000177382 NG_002361 PGOHUM00000248988 HGNC:44647 HGNC:56608 TVP23CP3 TVP23C pseudogene 3 pseudogene pseudogene Approved 3q27.1 03q27.1 2022-11-04 2022-11-04 127525792 ENSG00000271682 NG_148561 PGOHUM00000299298 -HGNC:9620 TWF1 twinfilin actin binding protein 1 protein-coding gene gene with protein product Approved 12q12 12q12 A6 PTK9 "protein tyrosine kinase 9|PTK9 protein tyrosine kinase 9|twinfilin, actin-binding protein, homolog 1 (Drosophila)" 1997-12-17 2006-11-13 2015-04-29 2023-01-20 5756 ENSG00000151239 OTTHUMG00000169426 uc001roa.4 U02680 NM_002822 "CCDS55818|CCDS31780" Q12792 7507208 MGI:1100520 RGD:1311872 610932 objectId:2266 HGNC:9620 "ENST00000395510.7|NM_002822.5" +HGNC:9620 TWF1 twinfilin actin binding protein 1 protein-coding gene gene with protein product Approved 12q12 12q12 A6 PTK9 "protein tyrosine kinase 9|PTK9 protein tyrosine kinase 9|twinfilin, actin-binding protein, homolog 1 (Drosophila)" 1997-12-17 2006-11-13 2015-04-29 2023-01-20 5756 ENSG00000151239 OTTHUMG00000169426 uc001roa.4 U02680 NM_002822 "CCDS31780|CCDS55818" Q12792 7507208 MGI:1100520 RGD:1311872 610932 objectId:2266 HGNC:9620 "ENST00000395510.7|NM_002822.5" HGNC:21736 TWF1P1 twinfilin 1 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 A6ps1 PTK9P1 protein tyrosine kinase 9 pseudogene 1 2005-01-19 2007-12-18 2007-12-18 2017-10-25 619519 ENSG00000178082 OTTHUMG00000179542 NG_005328 PGOHUM00000294044 HGNC:21736 HGNC:21737 TWF1P2 twinfilin 1 pseudogene 2 pseudogene pseudogene Approved Xq28 Xq28 A6ps2 PTK9P2 protein tyrosine kinase 9 pseudogene 2 2005-01-19 2007-12-18 2007-12-18 2020-07-17 494555 ENSG00000225008 NG_027797 HGNC:21737 HGNC:9621 TWF2 twinfilin actin binding protein 2 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "A6RP|A6r" PTK9L "protein tyrosine kinase 9-like (A6-related protein)|PTK9L protein tyrosine kinase 9-like (A6-related protein)|twinfilin, actin-binding protein, homolog 2 (Drosophila)" 1999-09-28 2006-11-13 2015-04-29 2023-01-20 11344 ENSG00000247596 OTTHUMG00000158105 uc003ddd.4 Y17169 NM_007284 CCDS2849 Q6IBS0 "10406962|12807912" MGI:1346078 RGD:1591460 607433 objectId:2267 HGNC:9621 "ENST00000305533.10|NM_007284.4" HGNC:55619 TWF2-DT TWF2 divergent transcript non-coding RNA RNA, long non-coding Approved 3p21.2 03p21.2 Divergent transcripts 1990 2021-06-21 2021-06-21 101929054 ENSG00000243224 NR_135307 HGNC:12428 TWIST1 twist family bHLH transcription factor 1 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "SCS|H-twist|BPES2|bHLHa38|CRS1" Saethre-Chotzen syndrome "ACS3|BPES3|TWIST|CRS" "blepharophimosis, epicanthus inversus and ptosis 3|acrocephalosyndactyly 3|twist homolog 1 (Drosophila)|twist basic helix-loop-helix transcription factor 1|craniosynostosis" Basic helix-loop-helix proteins 420 1997-07-01 2003-03-28 2013-10-17 2023-01-20 7291 ENSG00000122691 OTTHUMG00000090821 uc003sum.3 U80998 NM_000474 CCDS5367 Q15672 "8995765|11474656|17343269" MGI:98872 RGD:621455 601622 120345 HGNC:12428 "ENST00000242261.6|NM_000474.4" HGNC:12428 HGNC:20670 TWIST2 twist family bHLH transcription factor 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "DERMO1|Dermo-1|bHLHa39" "twist homolog 2 (Drosophila)|twist basic helix-loop-helix transcription factor 2" Basic helix-loop-helix proteins 420 2003-03-25 2013-10-17 2023-01-20 117581 ENSG00000233608 OTTHUMG00000152836 uc032owz.2 BC017907 NM_001271893 CCDS46558 Q8WVJ9 "7589808|9061034" MGI:104685 RGD:621286 607556 239021 HGNC:20670 "ENST00000612363.2|NM_001271893.4" HGNC:20670 -HGNC:1160 TWNK twinkle mtDNA helicase protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "PEO|PEO1|TWINKLE|FLJ21832|TWINL" T7 helicase-related protein with intramitochondrial nucleoid localization "IOSCA|C10orf2" "infantile onset spinocerebellar ataxia (autosomal recessive)|chromosome 10 open reading frame 2" DNA helicases 1167 2000-08-11 2016-10-11 2016-10-11 2023-01-20 56652 ENSG00000107815 OTTHUMG00000018917 uc001ksf.3 AF292004 NM_021830 "CCDS86137|CCDS86136|CCDS7506|CCDS53570" Q96RR1 "11431692|10645945|16135556" MGI:2137410 RGD:1307884 606075 159897 HGNC:1160 "ENST00000311916.8|NM_021830.5" HGNC:1160 +HGNC:1160 TWNK twinkle mtDNA helicase protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "PEO|PEO1|TWINKLE|FLJ21832|TWINL" T7 helicase-related protein with intramitochondrial nucleoid localization "IOSCA|C10orf2" "infantile onset spinocerebellar ataxia (autosomal recessive)|chromosome 10 open reading frame 2" DNA helicases 1167 2000-08-11 2016-10-11 2016-10-11 2023-01-20 56652 ENSG00000107815 OTTHUMG00000018917 uc001ksf.3 AF292004 NM_021830 "CCDS86137|CCDS7506|CCDS86136|CCDS53570" Q96RR1 "11431692|10645945|16135556" MGI:2137410 RGD:1307884 606075 159897 HGNC:1160 "ENST00000311916.8|NM_021830.5" HGNC:1160 HGNC:12429 TWSG1 twisted gastrulation BMP signaling modulator 1 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 TSG twisted gastrulation homolog 1 (Drosophila) 2000-02-16 2013-10-03 2023-01-20 57045 ENSG00000128791 OTTHUMG00000131597 uc002knz.3 AA486291 NM_020648 CCDS11844 Q9GZX9 11260715 MGI:2137520 RGD:1311215 605049 471280 HGNC:12429 "ENST00000262120.10|NM_020648.6" HGNC:55329 TWSG1-DT TWSG1 divergent transcript non-coding RNA RNA, long non-coding Approved 18p11.22 18p11.22 Divergent transcripts 1990 2020-10-21 2020-10-21 102724397 ENSG00000264964 NR_183519 HGNC:12434 TXK TXK tyrosine kinase protein-coding gene gene with protein product Approved 4p12 04p12 "TKL|PSCTK5|BTKL|RLK" PTK4 PTK4 protein tyrosine kinase 4 "SH2 domain containing|Tec family tyrosine kinases" "741|1457" 1994-12-08 2003-04-01 2023-01-20 7294 ENSG00000074966 OTTHUMG00000102065 uc003gxx.4 L27071 NM_003328 CCDS3480 P42681 "7951233|7528718" MGI:102960 RGD:1306481 600058 objectId:2268 2.7.10.1 HGNC:12434 "ENST00000264316.9|NM_003328.3" @@ -41152,21 +41155,21 @@ HGNC:18473 TXLNGY taxilin gamma pseudogene, Y-linked pseudogene pseudogene Appro HGNC:12435 TXN thioredoxin protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "TRX|Trx80|TXN1" 1990-02-05 2023-05-24 7295 ENSG00000136810 OTTHUMG00000020480 uc004bep.3 X77584 NM_001244938 "CCDS59139|CCDS35103" P10599 MGI:98874 RGD:621157 187700 HGNC:12435 "ENST00000374517.6|NM_003329.4" HGNC:17772 TXN2 thioredoxin 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 MT-TRX 2002-02-13 2023-01-20 25828 ENSG00000100348 OTTHUMG00000150596 uc003apk.2 U78678 NM_012473 CCDS13928 Q99757 "9006939|17220299" MGI:1929468 RGD:71040 609063 HGNC:17772 "ENST00000216185.7|NM_012473.4" HGNC:17772 HGNC:54554 TXN2P1 TXN2 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 2019-10-14 2019-10-14 100505690 ENSG00000213540 NG_029705 -HGNC:16470 TXNDC2 thioredoxin domain containing 2 protein-coding gene gene with protein product Approved 18p11.31-p11.2 18p11.31-p11.2 SPTRX1 sperm-specific thioredoxin 1 thioredoxin domain containing 2 (spermatozoa) Thioredoxin domain containing 1883 2001-08-30 2007-08-16 2016-03-31 2023-01-20 84203 ENSG00000168454 OTTHUMG00000131602 uc002koh.5 AF080095 NM_032243 "CCDS11846|CCDS42414" Q86VQ3 "11230166|11399755" MGI:2389312 RGD:1359251 617790 HGNC:16470 "ENST00000357775.6|NM_032243.6" +HGNC:16470 TXNDC2 thioredoxin domain containing 2 protein-coding gene gene with protein product Approved 18p11.31-p11.2 18p11.31-p11.2 SPTRX1 sperm-specific thioredoxin 1 thioredoxin domain containing 2 (spermatozoa) Thioredoxin domain containing 1883 2001-08-30 2007-08-16 2016-03-31 2023-01-20 84203 ENSG00000168454 OTTHUMG00000131602 uc002koh.5 AF080095 NM_032243 "CCDS42414|CCDS11846" Q86VQ3 "11230166|11399755" MGI:2389312 RGD:1359251 617790 HGNC:16470 "ENST00000357775.6|NM_032243.6" HGNC:21073 TXNDC5 thioredoxin domain containing 5 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "MGC3178|FLJ21353|FLJ90810|EndoPDI|Hcc-2|ERp46|PDIA15" protein disulfide isomerase family A, member 15 "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2003-05-15 2016-03-31 2023-03-15 81567 ENSG00000239264 OTTHUMG00000014216 uc003mxv.4 AK025006 NM_030810 "CCDS4505|CCDS47369" Q8NBS9 MGI:2145316 RGD:2323973 616412 HGNC:21073 "ENST00000379757.9|NM_030810.5" -HGNC:31454 TXNDC8 thioredoxin domain containing 8 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "bA427L11.2|TRX6|SPTRX-3" sperm-specific thioredoxin 3 thioredoxin domain containing 8 (spermatozoa) Thioredoxin domain containing 1883 2004-05-27 2007-08-16 2016-03-31 2023-01-20 255220 ENSG00000204193 OTTHUMG00000020481 uc004bes.5 BC035743 NM_001003936 "CCDS35104|CCDS69639|CCDS75872" Q6A555 MGI:1914652 RGD:1303121 617789 HGNC:31454 "ENST00000423740.7|NM_001286946.2" +HGNC:31454 TXNDC8 thioredoxin domain containing 8 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "bA427L11.2|TRX6|SPTRX-3" sperm-specific thioredoxin 3 thioredoxin domain containing 8 (spermatozoa) Thioredoxin domain containing 1883 2004-05-27 2007-08-16 2016-03-31 2023-01-20 255220 ENSG00000204193 OTTHUMG00000020481 uc004bes.5 BC035743 NM_001003936 "CCDS35104|CCDS75872|CCDS69639" Q6A555 MGI:1914652 RGD:1303121 617789 HGNC:31454 "ENST00000423740.7|NM_001286946.2" HGNC:24110 TXNDC9 thioredoxin domain containing 9 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 APACD Thioredoxin domain containing 1883 2004-05-12 2023-01-20 10190 ENSG00000115514 OTTHUMG00000130641 uc002szz.4 BC005968 NM_005783 CCDS2044 O14530 23210642 MGI:2138153 RGD:708355 612564 HGNC:24110 "ENST00000264255.8|NM_005783.4" -HGNC:28030 TXNDC11 thioredoxin domain containing 11 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 EFP1 EF-hand binding protein 1 Thioredoxin domain containing 1883 2005-01-07 2023-01-20 51061 ENSG00000153066 OTTHUMG00000177467 uc002dbg.2 BC013727 NM_015914 "CCDS76822|CCDS32387" Q6PKC3 "8619474|9110174" MGI:1923620 RGD:1307538 617792 HGNC:28030 "ENST00000283033.10|NM_015914.7" +HGNC:28030 TXNDC11 thioredoxin domain containing 11 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 EFP1 EF-hand binding protein 1 Thioredoxin domain containing 1883 2005-01-07 2023-01-20 51061 ENSG00000153066 OTTHUMG00000177467 uc002dbg.2 BC013727 NM_015914 "CCDS32387|CCDS76822" Q6PKC3 "8619474|9110174" MGI:1923620 RGD:1307538 617792 HGNC:28030 "ENST00000283033.10|NM_015914.7" HGNC:56375 TXNDC11-AS1 TXNDC11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.13 16p13.13 AC007613.1 Antisense RNAs 1987 2022-10-17 2022-10-17 127379753 ENSG00000262420 HGNC:24626 TXNDC12 thioredoxin domain containing 12 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "TLP19|ERP18|ERP19|hAG-1|AGR1|PDIA16" "endoplasmic reticulum thioredoxin superfamily member, 18 kDa|anterior gradient homolog 1 (Xenopus laevis)|protein disulfide isomerase family A, member 16" thioredoxin domain containing 12 (endoplasmic reticulum) "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2005-06-06 2016-03-31 2023-01-20 51060 ENSG00000117862 OTTHUMG00000008629 uc001cti.5 AF131758 NM_015913 CCDS561 O95881 "8619474|9110174" MGI:1913323 RGD:1305960 609448 HGNC:24626 "ENST00000371626.9|NM_015913.4" HGNC:30008 TXNDC12-AS1 TXNDC12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Antisense RNAs 1987 2013-09-05 2014-11-19 104355143 ENSG00000228369 OTTHUMG00000008632 AI221303 NR_126385 TXNDC12-AS1 HGNC:30008 HGNC:20652 TXNDC15 thioredoxin domain containing 15 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "2310047H23Rik|FLJ22625" C5orf14 chromosome 5 open reading frame 14 Thioredoxin domain containing 1883 2004-04-27 2007-08-16 2007-08-16 2023-01-20 79770 ENSG00000113621 OTTHUMG00000129115 uc003lac.2 AK026278 NM_024715 CCDS4180 Q96J42 27894351 MGI:1916922 RGD:1304696 617778 HGNC:20652 "ENST00000358387.9|NM_024715.4" HGNC:20652 HGNC:19965 TXNDC16 thioredoxin domain containing 16 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 KIAA1344 KIAA1344 Thioredoxin domain containing 1883 2003-11-21 2007-08-16 2007-08-16 2023-01-20 57544 ENSG00000087301 OTTHUMG00000171103 uc001wzs.4 AB037765 NM_020784 CCDS32083 Q9P2K2 MGI:1917811 RGD:1306755 616179 HGNC:19965 "ENST00000281741.9|NM_020784.3" HGNC:28218 TXNDC17 thioredoxin domain containing 17 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC14353|TRP14" thioredoxin (Trx)-related protein, 14 kDa TXNL5 thioredoxin-like 5 Thioredoxin domain containing 1883 2004-03-05 2007-08-16 2007-08-16 2023-01-20 84817 ENSG00000129235 OTTHUMG00000102053 uc002gdf.5 BC006405 NM_032731 CCDS11077 Q9BRA2 "14607844|14607843|24778250" MGI:1289248 RGD:1308868 616967 HGNC:28218 "ENST00000250101.10|NM_032731.4" -HGNC:16952 TXNIP thioredoxin interacting protein protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "VDUP1|EST01027|HHCPA78|THIF|ARRDC6" "upregulated by 1,25-dihydroxyvitamin D-3|thioredoxin binding protein 2" Alpha arrestins 1311 2001-12-12 2023-01-20 10628 ENSG00000265972 OTTHUMG00000013755 uc031utr.2 S73591 NM_006472 "CCDS81368|CCDS72876" Q9H3M7 8086474 MGI:1889549 RGD:620886 606599 HGNC:16952 "ENST00000582401.6|NM_006472.6" +HGNC:16952 TXNIP thioredoxin interacting protein protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "VDUP1|EST01027|HHCPA78|THIF|ARRDC6" "upregulated by 1,25-dihydroxyvitamin D-3|thioredoxin binding protein 2" Alpha arrestins 1311 2001-12-12 2023-01-20 10628 ENSG00000265972 OTTHUMG00000013755 uc031utr.2 S73591 NM_006472 "CCDS72876|CCDS81368" Q9H3M7 8086474 MGI:1889549 RGD:620886 606599 HGNC:16952 "ENST00000582401.6|NM_006472.6" HGNC:12436 TXNL1 thioredoxin like 1 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 "Txl|TRP32" thioredoxin-like, 32kD TXNL "thioredoxin-like, 32kDa|thioredoxin-like 1" 1998-11-26 2004-05-07 2015-12-01 2023-01-20 9352 ENSG00000091164 OTTHUMG00000132722 uc002lgi.4 AF003938 NM_004786 CCDS11961 O43396 "9473519|9668102" MGI:1860078 RGD:621717 603049 HGNC:12436 "ENST00000217515.11|NM_004786.3" HGNC:39459 TXNL1P1 thioredoxin like 1 pseudogene 1 pseudogene pseudogene Approved 13q31.1 13q31.1 thioredoxin-like 1 pseudogene 1 2011-01-17 2015-12-01 2015-12-01 100419095 ENSG00000231879 OTTHUMG00000017161 NG_024942 PGOHUM00000248656 HGNC:39459 -HGNC:30551 TXNL4A thioredoxin like 4A protein-coding gene gene with protein product Approved 18q23 18q23 "U5-15kD|DIM1|HsT161|DIB1|SNRNP15" similar to S. pombe dim1+ TXNL4 "thioredoxin-like 4|thioredoxin-like 4A" U5 small nuclear ribonucleoprotein 1503 2004-01-08 2004-08-12 2015-12-01 2023-01-20 10907 ENSG00000141759 OTTHUMG00000180376 uc002lnp.4 AF023612 NM_006701 "CCDS82260|CCDS32852" P83876 11015569 MGI:1351613 RGD:6492735 611595 419132 HGNC:30551 "ENST00000269601.10|NM_006701.5" HGNC:30551 +HGNC:30551 TXNL4A thioredoxin like 4A protein-coding gene gene with protein product Approved 18q23 18q23 "U5-15kD|DIM1|HsT161|DIB1|SNRNP15" similar to S. pombe dim1+ TXNL4 "thioredoxin-like 4|thioredoxin-like 4A" U5 small nuclear ribonucleoprotein 1503 2004-01-08 2004-08-12 2015-12-01 2023-01-20 10907 ENSG00000141759 OTTHUMG00000180376 uc002lnp.4 AF023612 NM_006701 "CCDS32852|CCDS82260" P83876 11015569 MGI:1351613 RGD:6492735 611595 419132 HGNC:30551 "ENST00000269601.10|NM_006701.5" HGNC:30551 HGNC:54569 TXNL4AP1 TXNL4A pseudogene 1 pseudogene pseudogene Approved 2q31.3 02q31.3 2019-10-16 2019-10-16 100131482 ENSG00000213126 NG_023335 HGNC:26041 TXNL4B thioredoxin like 4B protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "FLJ20511|DLP|Dim2" thioredoxin-like 4B 2004-08-11 2015-12-01 2023-01-20 54957 ENSG00000140830 OTTHUMG00000173453 uc010vmn.3 BC009646 NM_017853 CCDS10906 Q9NX01 15161931 MGI:2443724 RGD:1305127 617722 HGNC:26041 "ENST00000268483.8|NM_017853.3" HGNC:49481 TXNP1 thioredoxin pseudogene 1 pseudogene pseudogene Approved 10q26.11 10q26.11 2013-12-20 2013-12-20 93202 ENSG00000232823 OTTHUMG00000019154 NG_001297 PGOHUM00000238638 HGNC:49481 @@ -41176,39 +41179,39 @@ HGNC:49484 TXNP4 thioredoxin pseudogene 4 pseudogene pseudogene Approved 17p13.2 HGNC:49485 TXNP5 thioredoxin pseudogene 5 pseudogene pseudogene Approved 2q23.2 02q23.2 2013-12-20 2013-12-20 151276 ENSG00000228236 OTTHUMG00000153761 NG_001309 PGOHUM00000240383 HGNC:49485 HGNC:49486 TXNP6 thioredoxin pseudogene 6 pseudogene pseudogene Approved 4q21.1 04q21.1 2013-12-20 2013-12-20 171560 ENSG00000234036 OTTHUMG00000160877 NG_001330 PGOHUM00000245597 HGNC:49486 HGNC:49487 TXNP7 thioredoxin pseudogene 7 pseudogene pseudogene Approved 6q13 06q13 2013-12-20 2013-12-20 106480275 ENSG00000217268 OTTHUMG00000015041 NG_062459 PGOHUM00000243250 HGNC:49487 -HGNC:12437 TXNRD1 thioredoxin reductase 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "TXNR|GRIM-12|Trxr1" selenoprotein TXNRD1 "Selenoproteins|Glutaredoxin domain containing" "890|1468" 1996-12-30 2023-01-20 7296 ENSG00000198431 OTTHUMG00000166481 uc021rcx.3 NM_003330 "CCDS53821|CCDS53820|CCDS53823|CCDS58274" Q16881 7589432 MGI:1354175 RGD:61959 601112 471282 HGNC:12437 "ENST00000525566.6|NM_001093771.3" -HGNC:18155 TXNRD2 thioredoxin reductase 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "TR|TRXR2|TR3|SELZ" "thioredoxin reductase beta|selenoprotein Z" Selenoproteins 890 2002-02-22 2023-01-20 10587 ENSG00000184470 OTTHUMG00000149975 uc021wlj.4 AF106697 NM_006440 "CCDS87000|CCDS87001|CCDS86999|CCDS63402|CCDS86998|CCDS42981" Q9NNW7 "9923614|10215850|11012661" MGI:1347023 RGD:61960 LRG_417|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_417.xml 606448 286619 HGNC:18155 "ENST00000400521.7|NM_006440.5" HGNC:18155 -HGNC:20667 TXNRD3 thioredoxin reductase 3 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "TR2|TRXR3|TGR|TR2IT1|TXNRD3NT1" "thioredoxin glutathione reductase|selenoprotein TXNRD3" "TXNRD3NB|TXNRD3IT1" "thioredoxin reductase 3 neighbor|thioredoxin reductase 3 intronic transcript 1" "Selenoproteins|Glutaredoxin domain containing" "890|1468" 2003-09-11 2023-01-20 114112 ENSG00000197763 OTTHUMG00000162733 uc003ejd.3 AF133519 NM_052883 "CCDS77811|CCDS77810" Q86VQ6 "10455115|12530083" MGI:2386711 RGD:1308363 606235 HGNC:20667 "ENST00000524230.9|NM_052883.3" -HGNC:12440 TYK2 tyrosine kinase 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 JTK1 "FERM domain containing|Jak family tyrosine kinases" "1293|1459" 1990-09-10 2023-01-20 7297 ENSG00000105397 OTTHUMG00000166373 uc002moc.5 NM_001385197 "CCDS92513|CCDS12236" P29597 2156206 MGI:1929470 RGD:2320469 "TYK2base: Mutation registry for TYK2 deficiency|http://structure.bmc.lu.se/idbase/TYK2base/|LRG_121|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_121.xml" 176941 159075 objectId:2269 2.7.10.1 HGNC:12440 "ENST00000525621.6|NM_003331.5" HGNC:12440 -HGNC:3148 TYMP thymidine phosphorylase protein-coding gene gene with protein product Approved 22q13.33 22q13.33 gliostatin "MNGIE|ECGF1" endothelial cell growth factor 1 (platelet-derived) Minor histocompatibility antigens 870 1991-06-27 2008-01-21 2008-01-21 2023-01-20 1890 ENSG00000025708 OTTHUMG00000150249 uc003bmc.7 M63193 NM_001953 "CCDS58811|CCDS14096" P19971 "1590793|11733540" MGI:1920212 RGD:1305756 LRG_727|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_727.xml 131222 159550 2.4.2.4 HGNC:3148 "ENST00000252029.8|NM_001953.5" HGNC:3148 -HGNC:12441 TYMS thymidylate synthetase protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "Tsase|TMS|HsT422" TS 1990-09-10 2023-01-20 7298 ENSG00000176890 OTTHUMG00000131473 uc010dka.2 X02308 NM_001071 "CCDS86658|CCDS86659|CCDS11821" P04818 MGI:98878 RGD:3921 LRG_783|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_783.xml 188350 241969 objectId:2642 2.1.1.45 HGNC:12441 "ENST00000323274.15|NM_001071.4" +HGNC:12437 TXNRD1 thioredoxin reductase 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "TXNR|GRIM-12|Trxr1" selenoprotein TXNRD1 "Selenoproteins|Glutaredoxin domain containing" "890|1468" 1996-12-30 2023-01-20 7296 ENSG00000198431 OTTHUMG00000166481 uc021rcx.3 NM_003330 "CCDS53820|CCDS58274|CCDS53823|CCDS53821" Q16881 7589432 MGI:1354175 RGD:61959 601112 471282 HGNC:12437 "ENST00000525566.6|NM_001093771.3" +HGNC:18155 TXNRD2 thioredoxin reductase 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "TR|TRXR2|TR3|SELZ" "thioredoxin reductase beta|selenoprotein Z" Selenoproteins 890 2002-02-22 2023-01-20 10587 ENSG00000184470 OTTHUMG00000149975 uc021wlj.4 AF106697 NM_006440 "CCDS87001|CCDS86998|CCDS87000|CCDS86999|CCDS42981|CCDS63402" Q9NNW7 "9923614|10215850|11012661" MGI:1347023 RGD:61960 LRG_417|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_417.xml 606448 286619 HGNC:18155 "ENST00000400521.7|NM_006440.5" HGNC:18155 +HGNC:20667 TXNRD3 thioredoxin reductase 3 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "TR2|TRXR3|TGR|TR2IT1|TXNRD3NT1" "thioredoxin glutathione reductase|selenoprotein TXNRD3" "TXNRD3NB|TXNRD3IT1" "thioredoxin reductase 3 neighbor|thioredoxin reductase 3 intronic transcript 1" "Selenoproteins|Glutaredoxin domain containing" "890|1468" 2003-09-11 2023-01-20 114112 ENSG00000197763 OTTHUMG00000162733 uc003ejd.3 AF133519 NM_052883 "CCDS77810|CCDS77811" Q86VQ6 "10455115|12530083" MGI:2386711 RGD:1308363 606235 HGNC:20667 "ENST00000524230.9|NM_052883.3" +HGNC:12440 TYK2 tyrosine kinase 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 JTK1 "FERM domain containing|Jak family tyrosine kinases" "1293|1459" 1990-09-10 2023-01-20 7297 ENSG00000105397 OTTHUMG00000166373 uc002moc.5 NM_001385197 "CCDS12236|CCDS92513" P29597 2156206 MGI:1929470 RGD:2320469 "TYK2base: Mutation registry for TYK2 deficiency|http://structure.bmc.lu.se/idbase/TYK2base/|LRG_121|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_121.xml" 176941 159075 objectId:2269 2.7.10.1 HGNC:12440 "ENST00000525621.6|NM_003331.5" HGNC:12440 +HGNC:3148 TYMP thymidine phosphorylase protein-coding gene gene with protein product Approved 22q13.33 22q13.33 gliostatin "MNGIE|ECGF1" endothelial cell growth factor 1 (platelet-derived) Minor histocompatibility antigens 870 1991-06-27 2008-01-21 2008-01-21 2023-01-20 1890 ENSG00000025708 OTTHUMG00000150249 uc003bmc.7 M63193 NM_001953 "CCDS14096|CCDS58811" P19971 "1590793|11733540" MGI:1920212 RGD:1305756 LRG_727|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_727.xml 131222 159550 2.4.2.4 HGNC:3148 "ENST00000252029.8|NM_001953.5" HGNC:3148 +HGNC:12441 TYMS thymidylate synthetase protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "Tsase|TMS|HsT422" TS 1990-09-10 2023-01-20 7298 ENSG00000176890 OTTHUMG00000131473 uc010dka.2 X02308 NM_001071 "CCDS11821|CCDS86658|CCDS86659" P04818 MGI:98878 RGD:3921 LRG_783|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_783.xml 188350 241969 objectId:2642 2.1.1.45 HGNC:12441 "ENST00000323274.15|NM_001071.4" HGNC:29553 TYMSOS TYMS opposite strand RNA non-coding RNA RNA, long non-coding Approved 18p11.32 18p11.32 C18orf56 "chromosome 18 open reading frame 56|TYMS opposite strand" Long non-coding RNAs with non-systematic symbols 1992 2005-01-12 2014-05-21 2021-02-11 2023-03-15 494514 ENSG00000176912 OTTHUMG00000178257 BC028301 NR_171001 Q8TAI1 33847425 HGNC:29553 HGNC:52351 TYMSP1 thymidylate synthetase pseudogene 1 pseudogene pseudogene Approved 6q16.1 06q16.1 2016-07-28 2016-07-28 100419610 ENSG00000219139 OTTHUMG00000015241 NG_025965 PGOHUM00000301892 HGNC:52351 HGNC:52352 TYMSP2 thymidylate synthetase pseudogene 2 pseudogene pseudogene Approved 19q13.12 19q13.12 2016-07-28 2020-04-06 109729122 ENSG00000267190 OTTHUMG00000182260 NG_052943 PGOHUM00000294986 HGNC:52352 HGNC:12442 TYR tyrosinase protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "OCAIA|OCA1A|OCA1" oculocutaneous albinism IA 1988-08-16 2012-09-28 2023-01-20 7299 ENSG00000077498 OTTHUMG00000167294 uc001pcs.4 M27160 NM_000372 CCDS8284 P14679 MGI:98880 RGD:1589755 "Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the Tyrosinase Gene|http://www.retina-international.org/files/sci-news/tyrmut.htm" 606933 120353 objectId:2643 1.14.18.1 HGNC:12442 "ENST00000263321.6|NM_000372.5" HGNC:12442 HGNC:12443 TYRL tyrosinase like (pseudogene) pseudogene pseudogene Approved 11p11.12 11p11.12 tyrosinase-like 1988-08-16 2019-02-18 2019-02-18 7300 ENSG00000123447 OTTHUMG00000166674 M63240 NG_001529 "1903356|8234203|17355913" 191270 PGOHUM00000257815 HGNC:12443 -HGNC:12446 TYRO3 TYRO3 protein tyrosine kinase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "Dtk|Brt|Tif|Sky|Etk-2|Rek" RSE "Receptor tyrosine kinases|Fibronectin type III domain containing|I-set domain containing" "321|555|593" 1992-10-02 2023-01-20 7301 ENSG00000092445 OTTHUMG00000130341 uc001zof.3 D50479 NM_001330264 "CCDS10080|CCDS81866" Q06418 7851890 MGI:104294 RGD:3923 600341 objectId:1836 2.7.10.1 HGNC:12446 "ENST00000263798.8|NM_006293.4" +HGNC:12446 TYRO3 TYRO3 protein tyrosine kinase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "Dtk|Brt|Tif|Sky|Etk-2|Rek" RSE "Receptor tyrosine kinases|Fibronectin type III domain containing|I-set domain containing" "321|555|593" 1992-10-02 2023-01-20 7301 ENSG00000092445 OTTHUMG00000130341 uc001zof.3 D50479 NM_001330264 "CCDS81866|CCDS10080" Q06418 7851890 MGI:104294 RGD:3923 600341 objectId:1836 2.7.10.1 HGNC:12446 "ENST00000263798.8|NM_006293.4" HGNC:12447 TYRO3P TYRO3P protein tyrosine kinase pseudogene pseudogene pseudogene Approved 15q24.2 15q24.2 1992-10-02 2012-04-04 7302 ENSG00000259581 OTTHUMG00000172619 X72887 NR_028510 7851890 PGOHUM00000262065 HGNC:12447 -HGNC:12449 TYROBP transmembrane immune signaling adaptor TYROBP protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "DAP12|PLO-SL|KARAP" "killer activating receptor associated protein|DNAX-activation protein 12|DNAX adaptor protein 12" PLOSL "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|TYRO protein tyrosine kinase binding protein" 1998-06-25 2019-10-03 2023-01-20 7305 ENSG00000011600 OTTHUMG00000181739 uc002ocm.4 AF019563 NM_001173514 "CCDS54255|CCDS59378|CCDS46058|CCDS12482" O43914 "9490415|10888890" MGI:1277211 RGD:1303081 LRG_607|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_607.xml 604142 120356 HGNC:12449 "ENST00000262629.9|NM_003332.4" HGNC:12449 +HGNC:12449 TYROBP transmembrane immune signaling adaptor TYROBP protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "DAP12|PLO-SL|KARAP" "killer activating receptor associated protein|DNAX-activation protein 12|DNAX adaptor protein 12" PLOSL "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|TYRO protein tyrosine kinase binding protein" 1998-06-25 2019-10-03 2023-01-20 7305 ENSG00000011600 OTTHUMG00000181739 uc002ocm.4 AF019563 NM_001173514 "CCDS59378|CCDS12482|CCDS46058|CCDS54255" O43914 "9490415|10888890" MGI:1277211 RGD:1303081 LRG_607|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_607.xml 604142 120356 HGNC:12449 "ENST00000262629.9|NM_003332.4" HGNC:12449 HGNC:12450 TYRP1 tyrosinase related protein 1 protein-coding gene gene with protein product Approved 9p23 09p23 "GP75|CATB|TRP|b-PROTEIN|OCA3" "TYRP|CAS2" 1991-09-04 2016-04-19 2023-01-20 7306 ENSG00000107165 OTTHUMG00000021034 uc003zkv.5 L33830 NM_000550 CCDS34990 P17643 9434945 MGI:98881 RGD:1593266 "Mutations of the Tyrosinase-related Protein 1 Gene|http://www.retina-international.org/files/sci-news/trp1mut.htm|Albinism Database|http://albinismdb.med.umn.edu/" 115501 120361 HGNC:12450 "ENST00000388918.10|NM_000550.3" HGNC:12450 -HGNC:28531 TYSND1 trypsin like peroxisomal matrix peptidase 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "MGC34695|NET41" "peroxisomal cysteine endopeptidase|peroxisome leader peptide-processing protease|peroxisomal matrix protein–processing protease" trypsin domain containing 1 2004-05-27 2006-09-21 2020-07-31 2023-01-20 219743 ENSG00000156521 OTTHUMG00000018397 uc001jqr.5 BC016840 NM_173555 "CCDS31214|CCDS31213" Q2T9J0 17255948 MGI:1919017 RGD:1307354 611017 S01.286 HGNC:28531 "ENST00000287078.7|NM_173555.4" +HGNC:28531 TYSND1 trypsin like peroxisomal matrix peptidase 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "MGC34695|NET41" "peroxisomal cysteine endopeptidase|peroxisome leader peptide-processing protease|peroxisomal matrix protein–processing protease" trypsin domain containing 1 2004-05-27 2006-09-21 2020-07-31 2023-01-20 219743 ENSG00000156521 OTTHUMG00000018397 uc001jqr.5 BC016840 NM_173555 "CCDS31213|CCDS31214" Q2T9J0 17255948 MGI:1919017 RGD:1307354 611017 S01.286 HGNC:28531 "ENST00000287078.7|NM_173555.4" HGNC:25598 TYW1 tRNA-yW synthesizing protein 1 homolog protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "FLJ10900|MGC23001|MGC60291|YPL207W|TYW1A" tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae) RSAFD1 "radical S-adenosyl methionine and flavodoxin domains 1|tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)" Radical S-adenosylmethionine domain containing 2036 2004-11-08 2007-11-29 2015-11-19 2023-01-20 55253 ENSG00000198874 OTTHUMG00000129723 uc003tvn.5 AK001762 NM_018264 CCDS5538 Q9NV66 "16162496|17150819" MGI:2141161 RGD:1310420 611243 HGNC:25598 "ENST00000359626.10|NM_018264.4" HGNC:33908 TYW1B tRNA-yW synthesizing protein 1 homolog B protein-coding gene gene with protein product Approved 7q11.22-q11.23 07q11.22-q11.23 "RSAFD2|MGC87315|NCRNA00069|LINC00069" "radical S-adenosyl methionine and flavodoxin domains 1|non-protein coding RNA 69|long intergenic non-protein coding RNA 69" "tRNA-yW synthesizing protein 1 homolog B (non-protein coding)|tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)" Radical S-adenosylmethionine domain containing 2036 2007-11-29 2015-11-19 2023-01-20 441250 ENSG00000277149 OTTHUMG00000157067 uc032zqb.2 BC068520 NM_001145440 CCDS69309 Q6NUM6 MGI:2141161 HGNC:33908 "ENST00000620995.5|NM_001145440.3" HGNC:41905 TYW1P1 tRNA-yW synthesizing protein 1 homolog pseudogene 1 pseudogene pseudogene Approved 2p22.3 02p22.3 2011-05-09 2011-05-09 100533847 NG_028887 HGNC:41905 -HGNC:24757 TYW3 tRNA-yW synthesizing protein 3 homolog protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FLJ40918 C1orf171 "chromosome 1 open reading frame 171|tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)" 2005-07-20 2006-05-25 2015-11-19 2023-01-20 127253 ENSG00000162623 OTTHUMG00000009641 uc001dgn.4 BX647591 NM_138467 "CCDS666|CCDS53334" Q6IPR3 17150819 MGI:2445040 RGD:1559623 611245 HGNC:24757 "ENST00000370867.8|NM_138467.3" +HGNC:24757 TYW3 tRNA-yW synthesizing protein 3 homolog protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FLJ40918 C1orf171 "chromosome 1 open reading frame 171|tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)" 2005-07-20 2006-05-25 2015-11-19 2023-01-20 127253 ENSG00000162623 OTTHUMG00000009641 uc001dgn.4 BX647591 NM_138467 "CCDS53334|CCDS666" Q6IPR3 17150819 MGI:2445040 RGD:1559623 611245 HGNC:24757 "ENST00000370867.8|NM_138467.3" HGNC:26754 TYW5 tRNA-yW synthesizing protein 5 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ37953 C2orf60 chromosome 2 open reading frame 60 JmjC hydroxylases 1346 2007-07-10 2011-05-09 2011-05-09 2023-03-15 129450 ENSG00000162971 OTTHUMG00000132770 uc002uvi.5 AK095272 NM_001039693 CCDS42795 A2RUC4 20739293 MGI:1915986 RGD:1311269 619882 HGNC:26754 "ENST00000354611.9|NM_001039693.3" -HGNC:12453 U2AF1 U2 small nuclear RNA auxiliary factor 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "U2AF35|RNU2AF1|RN" U2AFBP "U2(RNU2) small nuclear RNA auxiliary factor binding protein|U2(RNU2) small nuclear RNA auxiliary factor 1" "RNA binding motif containing|Spliceosomal A complex|Spliceosomal E complex" "725|1504|1522" 1994-11-10 2006-04-11 2023-01-20 7307 ENSG00000160201 OTTHUMG00000086836 uc002zdb.2 BC001177 NM_006758 "CCDS13694|CCDS33574|CCDS42948" Q01081 "8660980|7956352" MGI:98884 RGD:1584190 LRG_615|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_615.xml U2AF1 191317 471284 HGNC:12453 "ENST00000291552.9|NM_006758.3" -HGNC:23020 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "MGC33901|U2af26" U2AF1L3 U2(RNU2) small nuclear RNA auxiliary factor 1-like 3 RNA binding motif containing 725 2003-09-24 2006-04-12 2016-07-11 2023-01-20 199746 ENSG00000161265 OTTHUMG00000182066 uc060xho.1 "BC021186|AY569437" NM_144987 "CCDS12473|CCDS42551" Q8WU68 "8586425|11739736" MGI:2678374 RGD:1305600 601080 HGNC:23020 "ENST00000378975.8|NM_001040425.3" +HGNC:12453 U2AF1 U2 small nuclear RNA auxiliary factor 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "U2AF35|RNU2AF1|RN" U2AFBP "U2(RNU2) small nuclear RNA auxiliary factor binding protein|U2(RNU2) small nuclear RNA auxiliary factor 1" "RNA binding motif containing|Spliceosomal A complex|Spliceosomal E complex" "725|1504|1522" 1994-11-10 2006-04-11 2023-01-20 7307 ENSG00000160201 OTTHUMG00000086836 uc002zdb.2 BC001177 NM_006758 "CCDS42948|CCDS13694|CCDS33574" Q01081 "8660980|7956352" MGI:98884 RGD:1584190 LRG_615|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_615.xml U2AF1 191317 471284 HGNC:12453 "ENST00000291552.9|NM_006758.3" +HGNC:23020 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "MGC33901|U2af26" U2AF1L3 U2(RNU2) small nuclear RNA auxiliary factor 1-like 3 RNA binding motif containing 725 2003-09-24 2006-04-12 2016-07-11 2023-01-20 199746 ENSG00000161265 OTTHUMG00000182066 uc060xho.1 "BC021186|AY569437" NM_144987 "CCDS42551|CCDS12473" Q8WU68 "8586425|11739736" MGI:2678374 RGD:1305600 601080 HGNC:23020 "ENST00000378975.8|NM_001040425.3" HGNC:23156 U2AF2 U2 small nuclear RNA auxiliary factor 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 U2AF65 "U2 small nuclear ribonucleoprotein auxiliary factor (65kD)|splicing factor U2AF 65 kD subunit|U2 snRNP auxiliary factor large subunit" U2 (RNU2) small nuclear RNA auxiliary factor 2 "RNA binding motif containing|Spliceosomal A complex|Spliceosomal E complex" "725|1504|1522" 2003-10-28 2006-04-11 2023-01-20 11338 ENSG00000063244 OTTHUMG00000180908 uc002qlu.4 BC008740 NM_007279 "CCDS12933|CCDS46197" P26368 1538748 MGI:98886 RGD:1310690 LRG_623|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_623.xml 191318 HGNC:23156 "ENST00000308924.9|NM_007279.3" HGNC:30855 U2SURP U2 snRNP associated SURP domain containing protein-coding gene gene with protein product Approved 3q23 03q23 "fSAPa|SR140" "functional spliceosome-associated protein a|Ser/Arg-rich domain protein, 140 kDa|U2 associated SR140 protein" U2 snRNP-associated SURP domain containing "RNA binding motif containing|Spliceosomal A complex" "725|1504" 2011-02-07 2016-04-04 2023-01-20 23350 ENSG00000163714 OTTHUMG00000159323 uc003evh.2 BK000564 NM_001080415 CCDS46928 O15042 "9205841|12234937" MGI:1915208 RGD:1307882 617849 HGNC:30855 "ENST00000473835.7|NM_001080415.2" HGNC:56431 U2SURPP1 U2SURP pseudogene 1 pseudogene pseudogene Approved 3p13 03p13 2022-10-19 2022-10-19 124906201 ENSG00000241537 PGOHUM00000306572 HGNC:15947 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ10128|KIAA1561" nucling Ankyrin repeat domain containing 403 2001-06-29 2023-01-20 55075 ENSG00000137831 OTTHUMG00000133363 uc002asr.4 AF322916 NM_001008224 "CCDS10235|CCDS32280" Q9BZF9 "11162650|10997877" MGI:1919815 RGD:1560011 612516 HGNC:15947 "ENST00000322954.11|NM_018003.4" -HGNC:12457 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "AGX1|AgX" "UDP-N-acetylglucosamine diphosphorylase 1|UDP-N-acetylhexosamine pyrophosphorylase 1" SPAG2 1998-11-26 2014-07-31 2023-03-15 6675 ENSG00000117143 OTTHUMG00000034419 uc001gce.5 AB011004 NM_003115 "CCDS1240|CCDS81393" Q16222 "9603950|8025165" MGI:1334459 RGD:1561967 602862 2.7.7.23 HGNC:12457 "ENST00000367925.6|NM_001324116.5" +HGNC:12457 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "AGX1|AgX" "UDP-N-acetylglucosamine diphosphorylase 1|UDP-N-acetylhexosamine pyrophosphorylase 1" SPAG2 1998-11-26 2014-07-31 2023-03-15 6675 ENSG00000117143 OTTHUMG00000034419 uc001gce.5 AB011004 NM_003115 "CCDS81393|CCDS1240" Q16222 "9603950|8025165" MGI:1334459 RGD:1561967 602862 2.7.7.23 HGNC:12457 "ENST00000367925.6|NM_001324116.5" HGNC:55410 UAP1-DT UAP1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Divergent transcripts 1990 2021-01-06 2021-01-06 102724358 ENSG00000259788 XR_426859 HGNC:28082 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 2004-01-29 2014-07-31 2023-01-20 91373 ENSG00000197355 OTTHUMG00000020962 uc010ncb.3 AK022632 NM_207309 CCDS7028 Q3KQV9 MGI:2443318 RGD:1310630 HGNC:28082 "ENST00000409858.8|NM_207309.3" HGNC:12469 UBA1 ubiquitin like modifier activating enzyme 1 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "UBE1X|POC20|CFAP124" "UBA1, ubiquitin-activating enzyme E1 homolog (yeast)|POC20 centriolar protein homolog (Chlamydomonas)" "A1S9T|GXP1|UBE1" "ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)|ubiquitin-activating enzyme E1|ubiquitin-like modifier activating enzyme 1" "Ubiquitin like modifier activating enzymes|Cilia and flagella associated" "100|1491" 1991-07-11 2007-11-30 2016-01-27 2023-01-20 7317 ENSG00000130985 OTTHUMG00000021436 uc004dhj.5 AF258566 NM_003334 CCDS14275 P22314 "1845793|33108101" MGI:98890 RGD:1359327 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UBA1 314370 140036 6.2.1.45 HGNC:12469 "ENST00000335972.11|NM_003334.4" HGNC:12469 -HGNC:30661 UBA2 ubiquitin like modifier activating enzyme 2 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "FLJ13058|HRIHFB2115" UBA2, ubiquitin-activating enzyme E1 homolog (yeast) SAE2 "SUMO1 activating enzyme subunit 2|ubiquitin-like modifier activating enzyme 2" Ubiquitin like modifier activating enzymes 100 2006-10-31 2007-11-30 2016-01-27 2023-01-20 10054 ENSG00000126261 OTTHUMG00000182090 uc002nvk.4 BC003153 NM_005499 "CCDS12439|CCDS92583" Q9UBT2 "10187858|9920803" MGI:1858313 RGD:1312023 613295 HGNC:30661 "ENST00000246548.9|NM_005499.3" HGNC:30661 -HGNC:12470 UBA3 ubiquitin like modifier activating enzyme 3 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "hUba3|NAE2" "NEDD8-activating enzyme E1 catalytic subunit|NEDD8-activating enzyme E1 subunit 2" UBE1C "ubiquitin-activating enzyme E1C (homologous to yeast UBA3)|ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)|ubiquitin-like modifier activating enzyme 3" Ubiquitin like modifier activating enzymes 100 1999-01-22 2007-11-30 2016-01-27 2023-03-15 9039 ENSG00000144744 OTTHUMG00000154325 uc003dno.4 AB012190 NM_198195 "CCDS2909|CCDS87106|CCDS2910" Q8TBC4 9694792 MGI:1341217 RGD:621084 603172 HGNC:12470 "ENST00000361055.9|NM_003968.4" +HGNC:30661 UBA2 ubiquitin like modifier activating enzyme 2 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "FLJ13058|HRIHFB2115" UBA2, ubiquitin-activating enzyme E1 homolog (yeast) SAE2 "SUMO1 activating enzyme subunit 2|ubiquitin-like modifier activating enzyme 2" Ubiquitin like modifier activating enzymes 100 2006-10-31 2007-11-30 2016-01-27 2023-01-20 10054 ENSG00000126261 OTTHUMG00000182090 uc002nvk.4 BC003153 NM_005499 "CCDS92583|CCDS12439" Q9UBT2 "10187858|9920803" MGI:1858313 RGD:1312023 613295 HGNC:30661 "ENST00000246548.9|NM_005499.3" HGNC:30661 +HGNC:12470 UBA3 ubiquitin like modifier activating enzyme 3 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "hUba3|NAE2" "NEDD8-activating enzyme E1 catalytic subunit|NEDD8-activating enzyme E1 subunit 2" UBE1C "ubiquitin-activating enzyme E1C (homologous to yeast UBA3)|ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)|ubiquitin-like modifier activating enzyme 3" Ubiquitin like modifier activating enzymes 100 1999-01-22 2007-11-30 2016-01-27 2023-03-15 9039 ENSG00000144744 OTTHUMG00000154325 uc003dno.4 AB012190 NM_198195 "CCDS87106|CCDS2909|CCDS2910" Q8TBC4 9694792 MGI:1341217 RGD:621084 603172 HGNC:12470 "ENST00000361055.9|NM_003968.4" HGNC:23230 UBA5 ubiquitin like modifier activating enzyme 5 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 FLJ23251 UBA5, ubiquitin-activating enzyme E1 homolog (yeast) UBE1DC1 "ubiquitin-activating enzyme E1-domain containing 1|ubiquitin-like modifier activating enzyme 5" Ubiquitin like modifier activating enzymes 100 2003-10-28 2007-11-30 2016-01-27 2023-01-20 79876 ENSG00000081307 OTTHUMG00000159759 uc003epa.5 AY253672 NM_024818 "CCDS3076|CCDS3077" Q9GZZ9 "11230166|15071506" MGI:1913913 RGD:1311702 610552 469050 HGNC:23230 "ENST00000356232.10|NM_024818.6" HGNC:23230 HGNC:56790 UBA5P1 UBA5 pseudogene 1 pseudogene pseudogene Approved 1q42.13 01q42.13 2023-04-19 2023-04-19 100126822 ENSG00000236636 NG_007136 PGOHUM00000296077 HGNC:25581 UBA6 ubiquitin like modifier activating enzyme 6 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 FLJ10808 UBA6, ubiquitin-activating enzyme E1 UBE1L2 "ubiquitin-activating enzyme E1-like 2|ubiquitin-like modifier activating enzyme 6" Ubiquitin like modifier activating enzymes 100 2006-02-14 2007-11-30 2016-01-27 2023-01-20 55236 ENSG00000033178 OTTHUMG00000129299 uc003hdg.5 AK094164 NM_018227 CCDS3516 A0AVT1 17580310 MGI:1913894 RGD:1308324 611361 HGNC:25581 "ENST00000322244.10|NM_018227.6" HGNC:25581 @@ -41227,13 +41230,13 @@ HGNC:36169 UBA52P9 ubiquitin A-52 residue ribosomal protein fusion product 1 pse HGNC:30221 UBAC1 UBA domain containing 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "GBDR1|KPC2" Kip1 ubiquitination-promoting complex subunit 2 UBADC1 ubiquitin associated domain containing 1 2004-01-27 2007-04-20 2007-04-20 2023-01-20 10422 ENSG00000130560 OTTHUMG00000020920 uc004cgt.3 AF176796 NM_016172 CCDS35177 Q9BSL1 "10857748|8619474|15531880" MGI:1920995 RGD:1359542 608129 HGNC:30221 "ENST00000371756.4|NM_016172.3" HGNC:20486 UBAC2 UBA domain containing 2 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 "FLJ30548|RP11-178C10.1" PHGDHL1 phosphoglycerate dehydrogenase like 1 "Rhomboid family|MicroRNA protein coding host genes" "926|1691" 2003-02-28 2007-04-20 2007-04-20 2023-01-20 337867 ENSG00000134882 OTTHUMG00000017267 uc001voa.5 AK055110 NM_177967 "CCDS45064|CCDS9490" Q8NBM4 MGI:1916139 RGD:1311689 285499 HGNC:20486 "ENST00000403766.8|NM_001144072.2" HGNC:42502 UBAC2-AS1 UBAC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 UBAC2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-02 2012-08-15 2014-11-19 100289373 ENSG00000228889 OTTHUMG00000017261 uc001vny.3 NR_036531 UBAC2-AS1 HGNC:42502 -HGNC:29576 UBALD1 UBA like domain containing 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FAM100A "family with sequence similarity 100, member A|UBA-like domain containing 1" 2005-11-14 2012-11-30 2016-01-27 2023-01-20 124402 ENSG00000153443 OTTHUMG00000129472 uc002cwx.2 BC025327 NM_145253 "CCDS81944|CCDS92096|CCDS10518" Q8TB05 MGI:1916255 RGD:1359443 HGNC:29576 "ENST00000283474.12|NM_145253.3" +HGNC:29576 UBALD1 UBA like domain containing 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FAM100A "family with sequence similarity 100, member A|UBA-like domain containing 1" 2005-11-14 2012-11-30 2016-01-27 2023-01-20 124402 ENSG00000153443 OTTHUMG00000129472 uc002cwx.2 BC025327 NM_145253 "CCDS92096|CCDS10518|CCDS81944" Q8TB05 MGI:1916255 RGD:1359443 HGNC:29576 "ENST00000283474.12|NM_145253.3" HGNC:28438 UBALD2 UBA like domain containing 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 MGC29814 FAM100B "family with sequence similarity 100, member B|UBA-like domain containing 2" 2005-11-14 2012-11-30 2016-01-27 2023-01-20 283991 ENSG00000185262 OTTHUMG00000132666 uc010wsy.2 NM_182565 CCDS11742 Q8IYN6 MGI:1914635 RGD:1311298 HGNC:28438 "ENST00000327490.8|NM_182565.4" -HGNC:12461 UBAP1 ubiquitin associated protein 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 UBAP ubiquitin associated protein ESCRT-I 1116 2000-06-08 2002-08-30 2002-08-27 2023-01-20 51271 ENSG00000165006 OTTHUMG00000000430 uc003ztx.4 AF222043 NM_001171201 "CCDS55303|CCDS6550" Q9NZ09 21757351 MGI:2149543 RGD:1305186 609787 HGNC:12461 "ENST00000297661.9|NM_016525.5" HGNC:12461 +HGNC:12461 UBAP1 ubiquitin associated protein 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 UBAP ubiquitin associated protein ESCRT-I 1116 2000-06-08 2002-08-30 2002-08-27 2023-01-20 51271 ENSG00000165006 OTTHUMG00000000430 uc003ztx.4 AF222043 NM_001171201 "CCDS6550|CCDS55303" Q9NZ09 21757351 MGI:2149543 RGD:1305186 609787 HGNC:12461 "ENST00000297661.9|NM_016525.5" HGNC:12461 HGNC:40028 UBAP1L ubiquitin associated protein 1 like protein-coding gene gene with protein product Approved 15q22.31 15q22.31 2011-08-15 2015-11-16 2023-01-20 390595 ENSG00000246922 OTTHUMG00000172425 uc002aok.4 NM_001163692 CCDS53948 F5GYI3 MGI:2685360 RGD:1582742 HGNC:40028 "ENST00000559089.6|NM_001163692.2" HGNC:14185 UBAP2 ubiquitin associated protein 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "KIAA1491|bA176F3.5|FLJ22435" Small nucleolar RNA protein coding host genes 1835 2002-09-11 2023-03-15 55833 ENSG00000137073 OTTHUMG00000000427 uc003ztq.1 AB040924 NM_018449 "CCDS6547|CCDS6548" Q5T6F2 8871400 MGI:1916176 RGD:1311717 HGNC:14185 "ENST00000379238.7|NM_001370062.2" -HGNC:29877 UBAP2L ubiquitin associated protein 2 like protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "NICE-4|KIAA0144" ubiquitin associated protein 2-like Small nucleolar RNA protein coding host genes 1835 2004-09-14 2015-11-11 2023-01-20 9898 ENSG00000143569 OTTHUMG00000035983 uc001fep.5 BC003170 NM_014847 "CCDS44229|CCDS81381|CCDS1063|CCDS72925" Q14157 "8590280|11230159" MGI:1921633 RGD:1308707 616472 HGNC:29877 "ENST00000428931.6|NM_014847.4" -HGNC:12462 UBASH3A ubiquitin associated and SH3 domain containing A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "STS-2|TULA|CLIP4" T-cell ubiquitin ligand protein 2000-05-02 2010-04-28 2023-01-20 53347 ENSG00000160185 OTTHUMG00000086805 uc002zbe.4 AJ277750 NM_001001895 "CCDS13687|CCDS58791|CCDS33566" P57075 11281453 MGI:1926074 RGD:1310305 605736 HGNC:12462 "ENST00000319294.11|NM_018961.4" +HGNC:29877 UBAP2L ubiquitin associated protein 2 like protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "NICE-4|KIAA0144" ubiquitin associated protein 2-like Small nucleolar RNA protein coding host genes 1835 2004-09-14 2015-11-11 2023-01-20 9898 ENSG00000143569 OTTHUMG00000035983 uc001fep.5 BC003170 NM_014847 "CCDS1063|CCDS72925|CCDS44229|CCDS81381" Q14157 "8590280|11230159" MGI:1921633 RGD:1308707 616472 HGNC:29877 "ENST00000428931.6|NM_014847.4" +HGNC:12462 UBASH3A ubiquitin associated and SH3 domain containing A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "STS-2|TULA|CLIP4" T-cell ubiquitin ligand protein 2000-05-02 2010-04-28 2023-01-20 53347 ENSG00000160185 OTTHUMG00000086805 uc002zbe.4 AJ277750 NM_001001895 "CCDS58791|CCDS13687|CCDS33566" P57075 11281453 MGI:1926074 RGD:1310305 605736 HGNC:12462 "ENST00000319294.11|NM_018961.4" HGNC:29884 UBASH3B ubiquitin associated and SH3 domain containing B protein-coding gene gene with protein product Approved 11q24.1 11q24.1 "KIAA1959|STS-1|TULA2|TULA-2" "SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate|T-cell ubiquitin ligand 2" Protein phosphatases 703 2007-12-07 2010-04-28 2023-01-20 84959 ENSG00000154127 OTTHUMG00000166025 uc001pyi.5 AB075839 NM_032873 CCDS31694 Q8TF42 "11853319|12370296|23784775" MGI:1920078 RGD:1310357 609201 HGNC:29884 "ENST00000284273.6|NM_032873.5" HGNC:12463 UBB ubiquitin B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "MGC8385|FLJ25987" polyubiquitin B 1990-03-06 2023-01-20 7314 ENSG00000170315 OTTHUMG00000058987 uc002gpx.5 NM_018955 CCDS11177 P0CG47 2154095 MGI:98888 RGD:621562 191339 477022 HGNC:12463 "ENST00000302182.8|NM_018955.4" HGNC:12463 HGNC:12464 UBBP1 ubiquitin B pseudogene 1 pseudogene pseudogene Approved 2q22.1 02q22.1 1990-03-12 2011-08-10 7315 ENSG00000230037 OTTHUMG00000153582 X04801 NG_002284 PGOHUM00000259767 HGNC:12464 @@ -41244,17 +41247,17 @@ HGNC:42645 UBBP5 ubiquitin B pseudogene 5 pseudogene pseudogene Approved 13q31.2 HGNC:12468 UBC ubiquitin C protein-coding gene gene with protein product Approved 12q24.3 12q24.3 polyubiquitin-C 1991-10-23 2023-01-20 7316 ENSG00000150991 OTTHUMG00000044421 uc031zre.2 NM_021009 CCDS9260 P0CG48 "1315303|11872750" MGI:98889 RGD:621244 191340 HGNC:12468 "ENST00000339647.6|NM_021009.7" HGNC:18795 UBD ubiquitin D protein-coding gene gene with protein product Approved 6p22.1 06p22.1 FAT10 2002-06-19 2023-01-20 10537 ENSG00000213886 OTTHUMG00000031289 uc011hhy.2 Y12653 NM_006398 CCDS4662 O15205 "9368598|8662070" MGI:1344410 RGD:69418 606050 HGNC:18795 "ENST00000377050.5|NM_006398.4" HGNC:18796 UBDP1 ubiquitin D pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 dJ994E9.3 2003-11-27 2020-04-20 100286971 ENSG00000225797 OTTHUMG00000031258 NG_027532 PGOHUM00000301304 HGNC:18796 -HGNC:12472 UBE2A ubiquitin conjugating enzyme E2 A protein-coding gene gene with protein product Approved Xq24 Xq24 "UBC2|HHR6A|RAD6A|HR6A" "ubiquitin-conjugating enzyme E2A (RAD6 homolog)|ubiquitin-conjugating enzyme E2A" Ubiquitin conjugating enzymes E2 102 1992-12-02 2016-03-14 2023-03-15 7319 ENSG00000077721 OTTHUMG00000022275 uc004erl.5 AK223045 NM_003336 "CCDS78500|CCDS14580|CCDS14581" P49459 1559696 MGI:102959 RGD:1359534 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UBE2A 312180 159080 HGNC:12472 "ENST00000371558.7|NM_003336.4" HGNC:12472 +HGNC:12472 UBE2A ubiquitin conjugating enzyme E2 A protein-coding gene gene with protein product Approved Xq24 Xq24 "UBC2|HHR6A|RAD6A|HR6A" "ubiquitin-conjugating enzyme E2A (RAD6 homolog)|ubiquitin-conjugating enzyme E2A" Ubiquitin conjugating enzymes E2 102 1992-12-02 2016-03-14 2023-03-15 7319 ENSG00000077721 OTTHUMG00000022275 uc004erl.5 AK223045 NM_003336 "CCDS14580|CCDS78500|CCDS14581" P49459 1559696 MGI:102959 RGD:1359534 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UBE2A 312180 159080 HGNC:12472 "ENST00000371558.7|NM_003336.4" HGNC:12472 HGNC:12473 UBE2B ubiquitin conjugating enzyme E2 B protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "UBC2|HHR6B|RAD6B" "ubiquitin-conjugating enzyme E2B (RAD6 homolog)|ubiquitin-conjugating enzyme E2B" Ubiquitin conjugating enzymes E2 102 1992-12-02 2016-03-14 2023-01-20 7320 ENSG00000119048 OTTHUMG00000129120 uc003kzh.4 M74525 NM_003337 CCDS4174 P63146 1559696 MGI:102944 RGD:708345 179095 471286 HGNC:12473 "ENST00000265339.7|NM_003337.4" -HGNC:15937 UBE2C ubiquitin conjugating enzyme E2 C protein-coding gene gene with protein product Approved 20q13.12 20q13.12 UBCH10 ubiquitin-conjugating enzyme E2C Ubiquitin conjugating enzymes E2 102 2001-07-31 2016-03-14 2023-03-15 11065 ENSG00000175063 OTTHUMG00000033038 uc002xpm.4 U73379 NM_007019 "CCDS13374|CCDS74734|CCDS13370|CCDS13371|CCDS13372|CCDS74733" O00762 9122200 MGI:1915862 RGD:1305382 605574 HGNC:15937 "ENST00000356455.9|NM_007019.4" +HGNC:15937 UBE2C ubiquitin conjugating enzyme E2 C protein-coding gene gene with protein product Approved 20q13.12 20q13.12 UBCH10 ubiquitin-conjugating enzyme E2C Ubiquitin conjugating enzymes E2 102 2001-07-31 2016-03-14 2023-03-15 11065 ENSG00000175063 OTTHUMG00000033038 uc002xpm.4 U73379 NM_007019 "CCDS74733|CCDS13372|CCDS13370|CCDS74734|CCDS13371|CCDS13374" O00762 9122200 MGI:1915862 RGD:1305382 605574 HGNC:15937 "ENST00000356455.9|NM_007019.4" HGNC:19670 UBE2CP1 ubiquitin conjugating enzyme E2 C pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 ubiquitin-conjugating enzyme E2C pseudogene 1 2003-01-13 2016-03-14 2016-03-14 326105 ENSG00000258648 OTTHUMG00000170581 NG_002528 PGOHUM00000247755 HGNC:19670 HGNC:43551 UBE2CP2 ubiquitin conjugating enzyme E2 C pseudogene 2 pseudogene pseudogene Approved 18q11.2 18q11.2 ubiquitin-conjugating enzyme E2C pseudogene 2 2011-11-07 2016-03-14 2017-10-25 646595 ENSG00000265939 OTTHUMG00000179444 NG_022483 PGOHUM00000294624 HGNC:43551 HGNC:43552 UBE2CP3 ubiquitin conjugating enzyme E2 C pseudogene 3 pseudogene pseudogene Approved 4q12 04q12 ubiquitin-conjugating enzyme E2C pseudogene 3 2011-11-07 2016-03-14 2016-03-14 100129983 ENSG00000250384 OTTHUMG00000160776 NG_022057 PGOHUM00000245919 HGNC:43552 HGNC:43553 UBE2CP4 ubiquitin conjugating enzyme E2 C pseudogene 4 pseudogene pseudogene Approved 15q13.3 15q13.3 ubiquitin-conjugating enzyme E2C pseudogene 4 2011-11-07 2016-03-14 2016-11-09 283711 ENSG00000259179 OTTHUMG00000129269 NG_023395 PGOHUM00000293189 HGNC:43553 HGNC:43554 UBE2CP5 ubiquitin conjugating enzyme E2 C pseudogene 5 pseudogene pseudogene Approved 19q13.43 19q13.43 ubiquitin-conjugating enzyme E2C pseudogene 5 2011-11-07 2016-03-14 2022-08-19 100874260 ENSG00000270804 NR_144562 PGOHUM00000250630 HGNC:43554 -HGNC:12474 UBE2D1 ubiquitin conjugating enzyme E2 D1 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "UbcH5A|UBCH5|UBC4/5|E2(17)KB1" SFT "stimulator of Fe transport|ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2D 1" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2023-01-20 7321 ENSG00000072401 OTTHUMG00000018269 uc001jke.3 BC015997 NM_003338 "CCDS7252|CCDS73139" P51668 "10072594|8530467" MGI:2384911 RGD:1307886 602961 objectId:3228 HGNC:12474 "ENST00000373910.9|NM_003338.5" -HGNC:12475 UBE2D2 ubiquitin conjugating enzyme E2 D2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "UbcH5B|UBC4" "ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2D 2" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2023-01-20 7322 ENSG00000131508 OTTHUMG00000163282 uc003ler.3 L40146 NM_181838 "CCDS43369|CCDS47275" P62837 8530467 MGI:1930715 RGD:1591897 602962 objectId:3229 HGNC:12475 "ENST00000398733.8|NM_003339.3" -HGNC:12476 UBE2D3 ubiquitin conjugating enzyme E2 D3 protein-coding gene gene with protein product Approved 4q24 04q24 UbcH5C "ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2D 3" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2023-01-20 7323 ENSG00000109332 OTTHUMG00000131119 uc003hwi.5 U39318 NM_181893 "CCDS3659|CCDS75172|CCDS3661|CCDS3660" P61077 8530467 MGI:1913355 RGD:619912 602963 HGNC:12476 "ENST00000453744.7|NM_181891.3" +HGNC:12474 UBE2D1 ubiquitin conjugating enzyme E2 D1 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "UbcH5A|UBCH5|UBC4/5|E2(17)KB1" SFT "stimulator of Fe transport|ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2D 1" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2023-01-20 7321 ENSG00000072401 OTTHUMG00000018269 uc001jke.3 BC015997 NM_003338 "CCDS73139|CCDS7252" P51668 "10072594|8530467" MGI:2384911 RGD:1307886 602961 objectId:3228 HGNC:12474 "ENST00000373910.9|NM_003338.5" +HGNC:12475 UBE2D2 ubiquitin conjugating enzyme E2 D2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "UbcH5B|UBC4" "ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2D 2" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2023-01-20 7322 ENSG00000131508 OTTHUMG00000163282 uc003ler.3 L40146 NM_181838 "CCDS47275|CCDS43369" P62837 8530467 MGI:1930715 RGD:1591897 602962 objectId:3229 HGNC:12475 "ENST00000398733.8|NM_003339.3" +HGNC:12476 UBE2D3 ubiquitin conjugating enzyme E2 D3 protein-coding gene gene with protein product Approved 4q24 04q24 UbcH5C "ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2D 3" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2023-01-20 7323 ENSG00000109332 OTTHUMG00000131119 uc003hwi.5 U39318 NM_181893 "CCDS3660|CCDS3659|CCDS75172|CCDS3661" P61077 8530467 MGI:1913355 RGD:619912 602963 HGNC:12476 "ENST00000453744.7|NM_181891.3" HGNC:54095 UBE2D3-AS1 UBE2D3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Antisense RNAs 1987 2018-11-04 2018-11-04 105377348 ENSG00000246560 NR_131185 HGNC:54095 HGNC:33349 UBE2D3P1 ubiquitin conjugating enzyme E2 D3 pseudogene 1 pseudogene pseudogene Approved 20p12.3 20p12.3 RP4-680N4 "UBE2D5P|UBE2D3P" "ubiquitin-conjugating enzyme E2D 5 pseudogene|ubiquitin-conjugating enzyme E2D 3 pseudogene|ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) pseudogene 1|ubiquitin-conjugating enzyme E2D 3 pseudogene 1" 2007-02-19 2010-09-21 2016-03-14 2016-03-14 100037280 ENSG00000225022 OTTHUMG00000031799 AL121755 XM_001723611 HGNC:33349 HGNC:39010 UBE2D3P2 ubiquitin conjugating enzyme E2 D3 pseudogene 2 pseudogene pseudogene Approved 3p22.2 03p22.2 "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) pseudogene 2|ubiquitin-conjugating enzyme E2D 3 pseudogene 2" 2010-09-21 2016-03-14 2016-03-14 100130139 ENSG00000225558 OTTHUMG00000155909 NG_053016 PGOHUM00000237994 HGNC:39010 @@ -41269,26 +41272,26 @@ HGNC:44512 UBE2E2-DT UBE2E2 divergent transcript non-coding RNA RNA, long non-co HGNC:12479 UBE2E3 ubiquitin conjugating enzyme E2 E3 protein-coding gene gene with protein product Approved 2q31.3 02q31.3 UbcH9 "ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2E 3" Ubiquitin conjugating enzymes E2 102 1998-12-01 2016-03-14 2023-01-20 10477 ENSG00000170035 OTTHUMG00000132585 uc032oln.2 AB017644 NM_006357 CCDS2282 Q969T4 10343118 MGI:107412 RGD:1308894 604151 HGNC:12479 "ENST00000410062.9|NM_006357.4" HGNC:40599 UBE2E3-DT UBE2E3 divergent transcript non-coding RNA RNA, long non-coding Approved 2q31.3 02q31.3 Divergent transcripts 1990 2021-06-30 2021-06-30 105373772 ENSG00000236153 OTTHUMG00000154204 XR_923639 HGNC:32199 UBE2E4P ubiquitin conjugating enzyme E2 E4 pseudogene pseudogene pseudogene Approved Xp22.2 Xp22.2 UbcM2 ubiquitin-conjugating enzyme E2E 4 pseudogene Ubiquitin conjugating enzymes E2 102 2005-08-10 2016-03-14 2020-04-17 286480 ENSG00000233247 AF136176 NG_004721 HGNC:32199 -HGNC:12480 UBE2F ubiquitin conjugating enzyme E2 F (putative) protein-coding gene gene with protein product Approved 2q37.3 02q37.3 NCE2 NEDD8 conjugating enzyme ubiquitin-conjugating enzyme E2F (putative) Ubiquitin conjugating enzymes E2 102 1999-03-02 2016-03-14 2023-01-20 140739 ENSG00000184182 OTTHUMG00000133341 uc002vxk.4 BC010549 NM_080678 "CCDS63177|CCDS2523|CCDS63176|CCDS63175" Q969M7 "19250909|23201271" MGI:1915171 RGD:1307608 617700 6.3.2.- HGNC:12480 "ENST00000272930.9|NM_080678.3" +HGNC:12480 UBE2F ubiquitin conjugating enzyme E2 F (putative) protein-coding gene gene with protein product Approved 2q37.3 02q37.3 NCE2 NEDD8 conjugating enzyme ubiquitin-conjugating enzyme E2F (putative) Ubiquitin conjugating enzymes E2 102 1999-03-02 2016-03-14 2023-01-20 140739 ENSG00000184182 OTTHUMG00000133341 uc002vxk.4 BC010549 NM_080678 "CCDS2523|CCDS63176|CCDS63175|CCDS63177" Q969M7 "19250909|23201271" MGI:1915171 RGD:1307608 617700 6.3.2.- HGNC:12480 "ENST00000272930.9|NM_080678.3" HGNC:48339 UBE2F-SCLY UBE2F-SCLY readthrough (NMD candidate) other readthrough Approved 2q37.3 02q37.3 2013-05-09 2013-05-09 100533179 ENSG00000258984 OTTHUMG00000170602 NR_037904 HGNC:48339 HGNC:44535 UBE2FP1 UBE2F pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 ubiquitin conjugating enzyme E2 F (putative) pseudogene 1 2012-11-15 2018-07-18 2018-07-18 100421436 ENSG00000224080 OTTHUMG00000155910 NR_168330 PGOHUM00000237587 HGNC:44535 HGNC:44536 UBE2FP2 UBE2F pseudogene 2 pseudogene pseudogene Approved 16q21 16q21 ubiquitin conjugating enzyme E2 F (putative) pseudogene 2 2012-11-15 2018-07-18 2018-07-18 101060189 ENSG00000261199 OTTHUMG00000177029 NG_033246 PGOHUM00000248909 HGNC:44536 HGNC:44537 UBE2FP3 UBE2F pseudogene 3 pseudogene pseudogene Approved 1p13.2 01p13.2 ubiquitin conjugating enzyme E2 F (putative) pseudogene 3 2012-11-15 2018-07-18 2018-07-18 106480360 ENSG00000233337 OTTHUMG00000011747 NG_044745 PGOHUM00000244849 HGNC:44537 HGNC:12482 UBE2G1 ubiquitin conjugating enzyme E2 G1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 UBC7 UBE2G "ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)|ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)|ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)|ubiquitin-conjugating enzyme E2G 1" Ubiquitin conjugating enzymes E2 102 1996-05-15 2016-03-14 2023-01-20 7326 ENSG00000132388 OTTHUMG00000177826 uc002fxs.4 BC026288 NM_003342 CCDS32532 P62253 8893823 MGI:1914378 RGD:620392 601569 HGNC:12482 "ENST00000396981.7|NM_003342.5" -HGNC:12483 UBE2G2 ubiquitin conjugating enzyme E2 G2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 UBC7 "ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)|ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)|ubiquitin-conjugating enzyme E2G 2" Ubiquitin conjugating enzymes E2 102 1997-11-20 2016-03-14 2023-01-20 7327 ENSG00000184787 OTTHUMG00000089179 uc002zfy.4 BC008351 NM_182688 "CCDS13714|CCDS33586" P60604 "9693041|9925943" MGI:1343188 RGD:1304860 603124 HGNC:12483 "ENST00000345496.7|NM_003343.6" -HGNC:12484 UBE2H ubiquitin conjugating enzyme E2 H protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "UBCH|UBC8|GID3" GID complex subunit 3, UBC8 homolog (S. cerevisiae) ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) Ubiquitin conjugating enzymes E2 102 1995-07-12 2016-03-14 2023-01-20 7328 ENSG00000186591 OTTHUMG00000157650 uc003vpf.3 BC006277 NM_003344 "CCDS5814|CCDS47710|CCDS94197" P62256 8132613 MGI:104632 RGD:2319288 601082 "2.3.2.23|2.3.2.24" HGNC:12484 "ENST00000355621.8|NM_003344.4" +HGNC:12483 UBE2G2 ubiquitin conjugating enzyme E2 G2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 UBC7 "ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)|ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)|ubiquitin-conjugating enzyme E2G 2" Ubiquitin conjugating enzymes E2 102 1997-11-20 2016-03-14 2023-01-20 7327 ENSG00000184787 OTTHUMG00000089179 uc002zfy.4 BC008351 NM_182688 "CCDS33586|CCDS13714" P60604 "9693041|9925943" MGI:1343188 RGD:1304860 603124 HGNC:12483 "ENST00000345496.7|NM_003343.6" +HGNC:12484 UBE2H ubiquitin conjugating enzyme E2 H protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "UBCH|UBC8|GID3" GID complex subunit 3, UBC8 homolog (S. cerevisiae) ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) Ubiquitin conjugating enzymes E2 102 1995-07-12 2016-03-14 2023-01-20 7328 ENSG00000186591 OTTHUMG00000157650 uc003vpf.3 BC006277 NM_003344 "CCDS94197|CCDS47710|CCDS5814" P62256 8132613 MGI:104632 RGD:2319288 601082 "2.3.2.23|2.3.2.24" HGNC:12484 "ENST00000355621.8|NM_003344.4" HGNC:55615 UBE2H-DT UBE2H divergent transcript non-coding RNA RNA, long non-coding Approved 7q32.2 07q32.2 Divergent transcripts 1990 2021-06-14 2021-06-14 121832803 ENSG00000244036 XR_007060520 HGNC:31079 UBE2HP1 ubiquitin conjugating enzyme E2 H pseudogene 1 pseudogene pseudogene Approved 8q21.13 08q21.13 UBE2HP "ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) pseudogene|ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) pseudogene 1|ubiquitin-conjugating enzyme E2H pseudogene 1" 2004-01-26 2010-07-07 2016-03-14 2020-04-20 646463 ENSG00000253677 OTTHUMG00000164597 NG_008822 PGOHUM00000249724 HGNC:31079 HGNC:12485 UBE2I ubiquitin conjugating enzyme E2 I protein-coding gene gene with protein product Approved 16p13.3 16p13.3 UBC9 "ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)|ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)|ubiquitin-conjugating enzyme E2I" Ubiquitin conjugating enzymes E2 102 1995-07-11 2016-03-14 2023-01-20 7329 ENSG00000103275 OTTHUMG00000186701 uc002cld.3 D45050 NM_003345 CCDS10433 P63279 8565643 MGI:107365 RGD:3926 601661 2.3.2.- HGNC:12485 "ENST00000397514.8|NM_003345.5" HGNC:17598 UBE2J1 ubiquitin conjugating enzyme E2 J1 protein-coding gene gene with protein product Approved 6q15 06q15 "HSPC153|CGI-76|NCUBE1|UBC6" "ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)|ubiquitin-conjugating enzyme E2, J1" Ubiquitin conjugating enzymes E2 102 2002-11-26 2016-03-14 2023-01-20 51465 ENSG00000198833 OTTHUMG00000016337 uc003pnc.4 AJ245898 NM_016021 CCDS5021 Q9Y385 10708578 MGI:1926245 RGD:1305067 616175 HGNC:17598 "ENST00000435041.3|NM_016021.3" -HGNC:19268 UBE2J2 ubiquitin conjugating enzyme E2 J2 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "Ubc6p|NCUBE2" "ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)|ubiquitin-conjugating enzyme E2, J2" Ubiquitin conjugating enzymes E2 102 2002-11-26 2016-03-14 2023-03-15 118424 ENSG00000160087 OTTHUMG00000001911 uc001adp.4 AF296658 NM_058167 "CCDS15|CCDS14|CCDS16" Q8N2K1 11278356 MGI:2153608 RGD:1359523 619756 HGNC:19268 "ENST00000349431.11|NM_058167.3" -HGNC:4914 UBE2K ubiquitin conjugating enzyme E2 K protein-coding gene gene with protein product Approved 4p14 04p14 "HYPG|UBC1" HIP2 "huntingtin interacting protein 2|ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)|ubiquitin-conjugating enzyme E2K" Ubiquitin conjugating enzymes E2 102 1997-08-28 2007-12-04 2016-03-14 2023-01-20 3093 ENSG00000078140 OTTHUMG00000160543 uc003guu.5 U58522 NM_005339 "CCDS47043|CCDS33976|CCDS47044" P61086 "8702625|17873885" MGI:1858216 RGD:1311626 602846 HGNC:4914 "ENST00000261427.10|NM_005339.5" +HGNC:19268 UBE2J2 ubiquitin conjugating enzyme E2 J2 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "Ubc6p|NCUBE2" "ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)|ubiquitin-conjugating enzyme E2, J2" Ubiquitin conjugating enzymes E2 102 2002-11-26 2016-03-14 2023-03-15 118424 ENSG00000160087 OTTHUMG00000001911 uc001adp.4 AF296658 NM_058167 "CCDS16|CCDS15|CCDS14" Q8N2K1 11278356 MGI:2153608 RGD:1359523 619756 HGNC:19268 "ENST00000349431.11|NM_058167.3" +HGNC:4914 UBE2K ubiquitin conjugating enzyme E2 K protein-coding gene gene with protein product Approved 4p14 04p14 "HYPG|UBC1" HIP2 "huntingtin interacting protein 2|ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)|ubiquitin-conjugating enzyme E2K" Ubiquitin conjugating enzymes E2 102 1997-08-28 2007-12-04 2016-03-14 2023-01-20 3093 ENSG00000078140 OTTHUMG00000160543 uc003guu.5 U58522 NM_005339 "CCDS47044|CCDS47043|CCDS33976" P61086 "8702625|17873885" MGI:1858216 RGD:1311626 602846 HGNC:4914 "ENST00000261427.10|NM_005339.5" HGNC:12486 UBE2L1 ubiquitin conjugating enzyme E2 L1 (pseudogene) pseudogene pseudogene Approved 14q22.3 14q22.3 "UBEL1|L-UBC|UBCH7N3" "UBE2L7P|UBE2L7" "ubiquitin-conjugating enzyme E2L 7 pseudogene|ubiquitin-conjugating enzyme E2L 1|ubiquitin-conjugating enzyme E2L 1 pseudogene|ubiquitin-conjugating enzyme E2L 1 (pseudogene)" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2016-03-14 283556 NG_002490 "8563171|10760570" 600012 HGNC:12486 HGNC:12487 UBE2L2 ubiquitin conjugating enzyme E2 L2 (pseudogene) pseudogene pseudogene Approved 12p12.2 12p12.2 "ubiquitin-conjugating enzyme E2L 2|ubiquitin-conjugating enzyme E2L 2 (pseudogene)" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2020-04-20 100506424 ENSG00000131982 OTTHUMG00000168963 NG_029060 8672131 PGOHUM00000239368 HGNC:12487 HGNC:12488 UBE2L3 ubiquitin conjugating enzyme E2 L3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 UBCH7 ubiquitin-conjugating enzyme E2L 3 Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2023-01-20 7332 ENSG00000185651 OTTHUMG00000150823 uc002zva.2 AJ000519 NM_198157 "CCDS58796|CCDS13790|CCDS58795" P68036 "8672131|9693040" MGI:109240 RGD:1308361 603721 369255 HGNC:12488 "ENST00000342192.9|NM_003347.4" HGNC:12489 UBE2L4 ubiquitin conjugating enzyme E2 L4 (pseudogene) pseudogene pseudogene Approved 19p13.2 19p13.2 "ubiquitin-conjugating enzyme E2L 4|ubiquitin-conjugating enzyme E2L 4 (pseudogene)" Ubiquitin conjugating enzymes E2 102 1997-04-16 2016-03-14 2016-10-05 7333 ENSG00000267741 OTTHUMG00000180210 Y09515 NG_001209 9605847 PGOHUM00000295189 HGNC:12489 HGNC:13477 UBE2L5 ubiquitin conjugating enzyme E2 L5 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 UBE2L5P "ubiquitin conjugating enzyme E2L 5 (pseudogene)|ubiquitin conjugating enzyme E2 L5, pseudogene" Ubiquitin conjugating enzymes E2 102 2005-08-10 2017-09-28 2017-09-28 2023-01-20 171222 ENSG00000236444 OTTHUMG00000016669 AL161893 NM_001355247 CCDS86346 A0A1B0GUS4 HGNC:13477 "ENST00000635918.2|NM_001355247.2" -HGNC:12490 UBE2L6 ubiquitin conjugating enzyme E2 L6 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 UBCH8 ubiquitin-conjugating enzyme E2L 6 Ubiquitin conjugating enzymes E2 102 1999-02-26 2016-03-14 2023-01-20 9246 ENSG00000156587 OTTHUMG00000167047 uc001nkn.3 "AF031141|AK093462|BC032491" NM_004223 "CCDS7961|CCDS7960" O14933 9153201 MGI:1914500 RGD:1307960 603890 HGNC:12490 "ENST00000287156.9|NM_004223.5" +HGNC:12490 UBE2L6 ubiquitin conjugating enzyme E2 L6 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 UBCH8 ubiquitin-conjugating enzyme E2L 6 Ubiquitin conjugating enzymes E2 102 1999-02-26 2016-03-14 2023-01-20 9246 ENSG00000156587 OTTHUMG00000167047 uc001nkn.3 "AF031141|AK093462|BC032491" NM_004223 "CCDS7960|CCDS7961" O14933 9153201 MGI:1914500 RGD:1307960 603890 HGNC:12490 "ENST00000287156.9|NM_004223.5" HGNC:12491 UBE2M ubiquitin conjugating enzyme E2 M protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "hUbc12|UBC12" "ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)|ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)|ubiquitin-conjugating enzyme E2M" Ubiquitin conjugating enzymes E2 102 1999-01-22 2016-03-14 2023-01-20 9040 ENSG00000130725 OTTHUMG00000183548 uc002qtl.5 AB012191 NM_003969 CCDS12987 P61081 9694792 MGI:108278 RGD:1307614 603173 HGNC:12491 "ENST00000253023.8|NM_003969.4" HGNC:32195 UBE2MP1 ubiquitin conjugating enzyme E2 M pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 ubiquitin-conjugating enzyme E2M pseudogene 1 2005-08-10 2016-03-14 2016-03-14 606551 ENSG00000261461 OTTHUMG00000176235 CR599143 NR_002837 HGNC:32195 HGNC:12492 UBE2N ubiquitin conjugating enzyme E2 N protein-coding gene gene with protein product Approved 12q22 12q22 "UbcH-ben|UBC13|MGC8489" "ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)|ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)|ubiquitin-conjugating enzyme E2N" Ubiquitin conjugating enzymes E2 102 1997-04-16 2016-03-14 2023-01-20 7334 ENSG00000177889 OTTHUMG00000170156 uc001tcp.4 D83004 NM_003348 CCDS31875 P61088 8902611 MGI:1934835 RGD:621096 603679 2.3.2.23 HGNC:12492 "ENST00000318066.7|NM_003348.4" @@ -41297,7 +41300,7 @@ HGNC:20337 UBE2NP1 ubiquitin conjugating enzyme E2 N pseudogene 1 pseudogene pse HGNC:29554 UBE2O ubiquitin conjugating enzyme E2 O protein-coding gene gene with protein product Approved 17q25.1 17q25.1 E2-230K ubiquitin-conjugating enzyme E2O 2005-12-15 2016-03-14 2023-01-20 63893 ENSG00000175931 OTTHUMG00000180178 uc002jrm.5 AB051521 NM_022066 CCDS32742 Q9C0C9 "11311559|11214970" MGI:2444266 RGD:1310297 617649 HGNC:29554 "ENST00000319380.12|NM_022066.4" HGNC:15698 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PRO3094|NICE-5" UBE2Q "ubiquitin-conjugating enzyme E2Q (putative)|ubiquitin-conjugating enzyme E2Q family member 1" Ubiquitin conjugating enzymes E2 102 2001-05-17 2005-08-05 2016-03-14 2023-01-20 55585 ENSG00000160714 OTTHUMG00000037265 uc001fff.2 AJ243666 NM_017582 CCDS1069 Q7Z7E8 MGI:1917343 RGD:1305305 617429 HGNC:15698 "ENST00000292211.5|NM_017582.7" HGNC:40722 UBE2Q1-AS1 UBE2Q1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 UBE2Q1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2014-11-19 100874097 ENSG00000229780 OTTHUMG00000037263 uc057lip.1 AW070285 NR_046668 UBE2Q1-AS1 HGNC:40722 -HGNC:19248 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 DKFZp762C143 "ubiquitin-conjugating enzyme E2Q (putative) 2|ubiquitin-conjugating enzyme E2Q family member 2" Ubiquitin conjugating enzymes E2 102 2005-10-04 2016-03-14 2023-01-20 92912 ENSG00000140367 OTTHUMG00000142839 uc002bbg.4 BC017708 NM_173469 "CCDS10286|CCDS45309|CCDS66839" Q8WVN8 16300736 MGI:2388672 RGD:1307680 612501 HGNC:19248 "ENST00000267938.9|NM_173469.4" +HGNC:19248 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 DKFZp762C143 "ubiquitin-conjugating enzyme E2Q (putative) 2|ubiquitin-conjugating enzyme E2Q family member 2" Ubiquitin conjugating enzymes E2 102 2005-10-04 2016-03-14 2023-01-20 92912 ENSG00000140367 OTTHUMG00000142839 uc002bbg.4 BC017708 NM_173469 "CCDS10286|CCDS66839|CCDS45309" Q8WVN8 16300736 MGI:2388672 RGD:1307680 612501 HGNC:19248 "ENST00000267938.9|NM_173469.4" HGNC:37439 UBE2Q2P1 UBE2Q2 pseudogene 1 pseudogene pseudogene Approved 15q25.2 15q25.2 FLJ43276 UBE2QP1 "ubiquitin-conjugating enzyme E2Q family pseudogene 1|ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1|ubiquitin conjugating enzyme E2 Q2 pseudogene 1" 2009-09-28 2009-12-17 2021-12-15 2023-03-15 388165 ENSG00000189136 OTTHUMG00000148662 NR_003661 PGOHUM00000262233 HGNC:37439 HGNC:37440 UBE2Q2P2 UBE2Q2 pseudogene 2 pseudogene pseudogene Approved 15q25.2 15q25.2 "UBE2QP2|UBE2Q2P3" "ubiquitin-conjugating enzyme E2Q family pseudogene 2|ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 3|ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 2|ubiquitin conjugating enzyme E2 Q2 pseudogene 2" 2009-09-28 2009-12-17 2021-12-15 2021-12-15 100134869 ENSG00000259429 OTTHUMG00000172604 BC066934 NR_004847 PGOHUM00000262260 HGNC:37440 HGNC:38429 UBE2Q2P4Y UBE2Q2 pseudogene 4, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 UBE2Q2PY1 "ubiquitin-conjugating enzyme E2Q family member 2 pseudogene, Y-linked 1|ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 4, Y-linked|ubiquitin conjugating enzyme E2 Q2 pseudogene 4, Y-linked" 2010-05-12 2010-06-28 2021-12-15 2021-12-15 100421716 ENSG00000225491 OTTHUMG00000045075 NG_021926 PGOHUM00000262155 HGNC:38429 @@ -41319,7 +41322,7 @@ HGNC:30864 UBE2SP1 ubiquitin conjugating enzyme E2 S pseudogene 1 pseudogene pse HGNC:32196 UBE2SP2 ubiquitin conjugating enzyme E2 S pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 ubiquitin-conjugating enzyme E2S pseudogene 2 2005-08-10 2016-03-14 2017-10-25 440406 ENSG00000224126 OTTHUMG00000059055 NG_031882 PGOHUM00000294303 HGNC:32196 HGNC:25009 UBE2T ubiquitin conjugating enzyme E2 T protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "HSPC150|FANCT" ubiquitin-conjugating enzyme E2T "Ubiquitin conjugating enzymes E2|FA complementation groups" "102|548" 2005-03-21 2016-03-14 2023-01-20 29089 ENSG00000077152 OTTHUMG00000041392 uc001gxx.5 AF161499 NM_014176 CCDS1425 Q9NPD8 "11042152|16916645|26046368" MGI:1914446 RGD:1310816 LRG_1169|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1169.xml 610538 432157 HGNC:25009 "ENST00000646651.1|NM_014176.4" HGNC:25009 HGNC:28559 UBE2U ubiquitin conjugating enzyme E2 U protein-coding gene gene with protein product Approved 1p31.3 01p31.3 MGC35130 ubiquitin-conjugating enzyme E2U (putative) Ubiquitin conjugating enzymes E2 102 2005-03-21 2018-03-15 2023-01-20 148581 ENSG00000177414 OTTHUMG00000009023 uc001dbn.1 BC029895 NM_152489 "CCDS90966|CCDS627" Q5VVX9 "22496338|27903633" MGI:3588216 RGD:1565480 HGNC:28559 "ENST00000371077.10|NM_001366232.2" -HGNC:12494 UBE2V1 ubiquitin conjugating enzyme E2 V1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "UEV-1|CROC-1|UEV1A|CROC1" UBE2V ubiquitin-conjugating enzyme E2 variant 1 Ubiquitin conjugating enzymes E2 102 1998-03-20 2016-03-14 2023-01-20 7335 ENSG00000244687 OTTHUMG00000152626 uc002xva.5 U39360 NM_021988 "CCDS13427|CCDS33483|CCDS13426|CCDS74740|CCDS58775" Q13404 "9418904|9305758" MGI:1913839 RGD:1305503 602995 HGNC:12494 "ENST00000371674.8|NM_001032288.3" +HGNC:12494 UBE2V1 ubiquitin conjugating enzyme E2 V1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "UEV-1|CROC-1|UEV1A|CROC1" UBE2V ubiquitin-conjugating enzyme E2 variant 1 Ubiquitin conjugating enzymes E2 102 1998-03-20 2016-03-14 2023-01-20 7335 ENSG00000244687 OTTHUMG00000152626 uc002xva.5 U39360 NM_021988 "CCDS13427|CCDS58775|CCDS74740|CCDS33483|CCDS13426" Q13404 "9418904|9305758" MGI:1913839 RGD:1305503 602995 HGNC:12494 "ENST00000371674.8|NM_001032288.3" HGNC:16581 UBE2V1P1 UBE2V1 pseudogene 1 pseudogene pseudogene Approved 20p13 20p13 dJ687F11.3 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1|ubiquitin conjugating enzyme E2 V1 pseudogene 1" 2001-09-17 2020-06-19 2020-06-19 170556 ENSG00000226632 OTTHUMG00000031743 AL117334 NG_001061 PGOHUM00000296883 HGNC:16581 HGNC:32648 UBE2V1P2 UBE2V1 pseudogene 2 pseudogene pseudogene Approved 3q26.31 03q26.31 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 2|ubiquitin conjugating enzyme E2 V1 pseudogene 2" 2008-08-07 2020-06-19 2020-06-19 730052 ENSG00000214192 OTTHUMG00000157118 NG_008616 PGOHUM00000299276 HGNC:32648 HGNC:23983 UBE2V1P3 UBE2V1 pseudogene 3 pseudogene pseudogene Approved Yp11.2 Yp11.2 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 3|ubiquitin conjugating enzyme E2 V1 pseudogene 3" 2009-12-17 2020-06-19 2020-06-19 359798 ENSG00000229518 OTTHUMG00000036182 NG_002821 12815422 PGOHUM00000233669 HGNC:23983 @@ -41342,20 +41345,20 @@ HGNC:44885 UBE2V2P1 ubiquitin conjugating enzyme E2 V2 pseudogene 1 pseudogene p HGNC:44887 UBE2V2P2 ubiquitin conjugating enzyme E2 V2 pseudogene 2 pseudogene pseudogene Approved 17q25.3 17q25.3 ubiquitin-conjugating enzyme E2 variant 2 pseudogene 2 2012-12-11 2016-03-14 2016-03-14 104548970 ENSG00000267463 OTTHUMG00000177677 NG_041787 PGOHUM00000294225 HGNC:44887 HGNC:44891 UBE2V2P3 ubiquitin conjugating enzyme E2 V2 pseudogene 3 pseudogene pseudogene Approved 1p36.22 01p36.22 ubiquitin-conjugating enzyme E2 variant 2 pseudogene 3 2012-12-11 2016-03-14 2016-03-14 100421341 ENSG00000238199 OTTHUMG00000002077 NG_026910 PGOHUM00000243890 HGNC:44891 HGNC:44892 UBE2V2P4 ubiquitin conjugating enzyme E2 V2 pseudogene 4 pseudogene pseudogene Approved 1p34.3 01p34.3 ubiquitin-conjugating enzyme E2 variant 2 pseudogene 4 2012-12-11 2016-03-14 2016-11-02 106480802 ENSG00000231849 OTTHUMG00000007715 NG_044185 PGOHUM00000295624 HGNC:44892 -HGNC:25616 UBE2W ubiquitin conjugating enzyme E2 W protein-coding gene gene with protein product Approved 8q21.11 08q21.11 "FLJ11011|UBC-16" "E2 ubiquitin-conjugating enzyme W|N-terminal E2 ubiquitin-conjugating enzyme|N-terminus-conjugating E2|Ubiquitin carrier protein W|Ubiquitin-conjugating enzyme 16|Ubiquitin-protein ligase W" "ubiquitin-conjugating enzyme E2W (putative)|ubiquitin conjugating enzyme E2 W (putative)" Ubiquitin conjugating enzymes E2 102 2005-10-06 2016-12-16 2023-01-20 55284 ENSG00000104343 OTTHUMG00000164517 uc064nta.1 AK001873 NM_001001481 "CCDS47874|CCDS47875" Q96B02 "16368532|21229326|26601958" MGI:1914049 RGD:6503620 614277 HGNC:25616 "ENST00000602593.6|NM_018299.6" +HGNC:25616 UBE2W ubiquitin conjugating enzyme E2 W protein-coding gene gene with protein product Approved 8q21.11 08q21.11 "FLJ11011|UBC-16" "E2 ubiquitin-conjugating enzyme W|N-terminal E2 ubiquitin-conjugating enzyme|N-terminus-conjugating E2|Ubiquitin carrier protein W|Ubiquitin-conjugating enzyme 16|Ubiquitin-protein ligase W" "ubiquitin-conjugating enzyme E2W (putative)|ubiquitin conjugating enzyme E2 W (putative)" Ubiquitin conjugating enzymes E2 102 2005-10-06 2016-12-16 2023-01-20 55284 ENSG00000104343 OTTHUMG00000164517 uc064nta.1 AK001873 NM_001001481 "CCDS47875|CCDS47874" Q96B02 "16368532|21229326|26601958" MGI:1914049 RGD:6503620 614277 HGNC:25616 "ENST00000602593.6|NM_018299.6" HGNC:32198 UBE2WP1 ubiquitin conjugating enzyme E2 W pseudogene 1 pseudogene pseudogene Approved 1p21.3 01p21.3 UBE2WP "ubiquitin-conjugating enzyme E2W pseudogene|ubiquitin-conjugating enzyme E2W pseudogene 1" 2005-10-06 2010-07-07 2016-03-14 2016-03-14 619457 ENSG00000234422 OTTHUMG00000010709 AC092393 NG_028833 HGNC:32198 HGNC:25847 UBE2Z ubiquitin conjugating enzyme E2 Z protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "FLJ13855|USE1" UBA6-specific enzyme E2 ubiquitin-conjugating enzyme E2Z Ubiquitin conjugating enzymes E2 102 2005-12-15 2016-03-14 2023-01-20 65264 ENSG00000159202 OTTHUMG00000150521 uc002ioi.4 BC015890 NM_023079 CCDS11540 Q9H832 17597759 MGI:1343160 RGD:1308347 611362 HGNC:25847 "ENST00000360943.10|NM_023079.5" -HGNC:12496 UBE3A ubiquitin protein ligase E3A protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "AS|ANCR|E6-AP|FLJ26981" Angelman syndrome "EPVE6AP|HPVE6A" human papilloma virus E6-associated protein HECT domain containing 1959 1993-10-21 2008-07-31 2023-01-20 7337 ENSG00000114062 OTTHUMG00000171548 uc059gvn.1 AF002224 NM_000462 "CCDS45191|CCDS86436|CCDS91966|CCDS32177|CCDS45192" Q05086 8221889 MGI:105098 RGD:1306361 "NGRL, Manchester LOVD|http://ngrl.manchester.ac.uk/LOVDv.2.0/home.php?select_db=UBE3A|LRG_15|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_15.xml" 601623 120365 2.3.2.26 HGNC:12496 "ENST00000648336.2|NM_130839.5" HGNC:12496 +HGNC:12496 UBE3A ubiquitin protein ligase E3A protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "AS|ANCR|E6-AP|FLJ26981" Angelman syndrome "EPVE6AP|HPVE6A" human papilloma virus E6-associated protein HECT domain containing 1959 1993-10-21 2008-07-31 2023-01-20 7337 ENSG00000114062 OTTHUMG00000171548 uc059gvn.1 AF002224 NM_000462 "CCDS86436|CCDS45191|CCDS45192|CCDS32177|CCDS91966" Q05086 8221889 MGI:105098 RGD:1306361 "NGRL, Manchester LOVD|http://ngrl.manchester.ac.uk/LOVDv.2.0/home.php?select_db=UBE3A|LRG_15|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_15.xml" 601623 120365 2.3.2.26 HGNC:12496 "ENST00000648336.2|NM_130839.5" HGNC:12496 HGNC:12497 UBE3AP1 ubiquitin protein ligase E3A pseudogene 1 pseudogene pseudogene Approved 2q11.1 02q11.1 1997-06-20 2012-02-29 7338 AF010598 NG_002381 9465301 HGNC:12497 HGNC:12498 UBE3AP2 ubiquitin protein ligase E3A pseudogene 2 pseudogene pseudogene Approved 21q22.11 21q22.11 1997-06-20 2016-10-05 7339 ENSG00000228941 OTTHUMG00000084863 AF010599 NG_001210 9465301 PGOHUM00000239064 HGNC:12498 -HGNC:13478 UBE3B ubiquitin protein ligase E3B protein-coding gene gene with protein product Approved 12q24.11 12q24.11 HECT domain containing 1959 2004-03-02 2023-03-15 89910 ENSG00000151148 OTTHUMG00000169254 uc001toq.5 BC032301 NM_183415 "CCDS9129|CCDS58277" Q7Z3V4 MGI:1891295 RGD:1583074 608047 331716 HGNC:13478 "ENST00000342494.8|NM_130466.4" HGNC:13478 +HGNC:13478 UBE3B ubiquitin protein ligase E3B protein-coding gene gene with protein product Approved 12q24.11 12q24.11 HECT domain containing 1959 2004-03-02 2023-03-15 89910 ENSG00000151148 OTTHUMG00000169254 uc001toq.5 BC032301 NM_183415 "CCDS58277|CCDS9129" Q7Z3V4 MGI:1891295 RGD:1583074 608047 331716 HGNC:13478 "ENST00000342494.8|NM_130466.4" HGNC:13478 HGNC:16803 UBE3C ubiquitin protein ligase E3C protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "KIAA0010|KIAA10" HECT domain containing 1959 2004-05-04 2023-01-20 9690 ENSG00000009335 OTTHUMG00000157239 uc010lqs.4 AK127280 NM_014671 CCDS34789 Q15386 "7584026|11278995" MGI:2140998 RGD:1559986 614454 HGNC:16803 "ENST00000348165.10|NM_014671.3" -HGNC:21381 UBE3D ubiquitin protein ligase E3D protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "DKFZp434A1520|H10BH|YJR141W" UBCH10 binding protein with a hect-like domain "C6orf157|UBE2CBP" "chromosome 6 open reading frame 157|ubiquitin-conjugating enzyme E2C binding protein" 2003-06-11 2012-02-24 2012-02-24 2023-01-20 90025 ENSG00000118420 OTTHUMG00000015108 uc003pjp.4 AL137544 NM_198920 "CCDS93953|CCDS34491" Q7Z6J8 15749827 MGI:1917598 RGD:1306773 612495 HGNC:21381 "ENST00000369747.8|NM_198920.3" +HGNC:21381 UBE3D ubiquitin protein ligase E3D protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "DKFZp434A1520|H10BH|YJR141W" UBCH10 binding protein with a hect-like domain "C6orf157|UBE2CBP" "chromosome 6 open reading frame 157|ubiquitin-conjugating enzyme E2C binding protein" 2003-06-11 2012-02-24 2012-02-24 2023-01-20 90025 ENSG00000118420 OTTHUMG00000015108 uc003pjp.4 AL137544 NM_198920 "CCDS34491|CCDS93953" Q7Z6J8 15749827 MGI:1917598 RGD:1306773 612495 HGNC:21381 "ENST00000369747.8|NM_198920.3" HGNC:12499 UBE4A ubiquitination factor E4A protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "UBOX2|UFD2|KIAA0126|E4" "ubiquitination factor E4A (homologous to yeast UFD2)|ubiquitination factor E4A (UFD2 homolog, yeast)" "U-box domain containing|Armadillo like helical domain containing" "365|1492" 2000-01-28 2011-05-19 2023-01-20 9354 ENSG00000110344 OTTHUMG00000168100 uc001psv.4 D50916 NM_004788 "CCDS8396|CCDS55790" Q14139 10089879 MGI:2154580 RGD:1303173 603753 HGNC:12499 "ENST00000252108.8|NM_001204077.2" HGNC:12499 HGNC:12500 UBE4B ubiquitination factor E4B protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "UBOX3|E4|UFD2|KIAA0684" "ubiquitination factor E4B (homologous to yeast UFD2)|ubiquitination factor E4B (UFD2 homolog, yeast)" U-box domain containing 365 2000-01-28 2011-05-19 2023-01-20 10277 ENSG00000130939 OTTHUMG00000001797 uc001aqr.5 AF091093 NM_006048 "CCDS90857|CCDS41245|CCDS110" O95155 "9734811|10089879" MGI:1927086 RGD:1304738 613565 HGNC:12500 "ENST00000343090.11|NM_001105562.3" HGNC:30565 UBFD1 ubiquitin family domain containing 1 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "FLJ42145|FLJ38870|UBPH" ubiquitin-binding protein homolog 2007-03-02 2023-01-20 56061 ENSG00000103353 OTTHUMG00000128855 uc002dlv.4 AK124139 NM_019116 CCDS10613 O14562 10493829 MGI:107301 RGD:1306614 HGNC:30565 "ENST00000395878.8|NM_019116.3" HGNC:42389 UBFD1P1 ubiquitin family domain containing 1 pseudogene 1 pseudogene pseudogene Approved 3q11.2 03q11.2 2011-07-05 2014-11-19 100130484 ENSG00000244653 OTTHUMG00000159797 NG_022258 PGOHUM00000238111 HGNC:42389 -HGNC:30791 UBIAD1 UbiA prenyltransferase domain containing 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 TERE1 transitional epithelia response protein SCCD Schnyder crystalline corneal dystrophy 2005-07-26 2023-01-20 29914 ENSG00000120942 OTTHUMG00000002075 uc001asg.4 NM_013319 "CCDS129|CCDS81260" Q9Y5Z9 "20953171|11314041|17668063|8894705" MGI:1918957 RGD:1309588 611632 159547 2.5.1.- HGNC:30791 "ENST00000376810.6|NM_013319.3" HGNC:30791 +HGNC:30791 UBIAD1 UbiA prenyltransferase domain containing 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 TERE1 transitional epithelia response protein SCCD Schnyder crystalline corneal dystrophy 2005-07-26 2023-01-20 29914 ENSG00000120942 OTTHUMG00000002075 uc001asg.4 NM_013319 "CCDS81260|CCDS129" Q9Y5Z9 "20953171|11314041|17668063|8894705" MGI:1918957 RGD:1309588 611632 159547 2.5.1.- HGNC:30791 "ENST00000376810.6|NM_013319.3" HGNC:30791 HGNC:12504 UBL3 ubiquitin like 3 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "HCG-1|DKFZP434K151|FLJ32018" PNSC1 ubiquitin-like 3 1998-01-30 2015-12-01 2023-01-20 5412 ENSG00000122042 OTTHUMG00000016661 uc001usp.4 AF044221 NM_007106 CCDS9334 O95164 10375635 MGI:1344373 RGD:1305431 604711 HGNC:12504 "ENST00000380680.5|NM_007106.4" HGNC:12505 UBL4A ubiquitin like 4A protein-coding gene gene with protein product Approved Xq28 Xq28 "GDX|DXS254E|GET5|MDY2|TMA24" UBL4 "ubiquitin-like 4|ubiquitin-like 4A" "BAG6 complex|GET4-GET5 transmembrane domain recognition complex subunits" "1891|1914" 2000-02-21 2005-09-27 2015-12-01 2023-01-20 8266 ENSG00000102178 OTTHUMG00000013370 uc004flo.4 J03589 NM_014235 CCDS14754 P11441 "2829204|16872915" MGI:95049 RGD:1563983 312070 HGNC:12505 "ENST00000369660.9|NM_014235.5" HGNC:32309 UBL4B ubiquitin like 4B protein-coding gene gene with protein product Approved 1p13.3 01p13.3 FLJ25690 ubiquitin-like 4B 2005-09-27 2015-12-01 2023-01-20 164153 ENSG00000186150 OTTHUMG00000166989 uc001dzc.4 NM_203412 CCDS820 Q8N7F7 16872915 MGI:1914841 RGD:1589125 611127 HGNC:32309 "ENST00000334179.5|NM_203412.2" @@ -41367,11 +41370,11 @@ HGNC:44642 UBL5P4 ubiquitin like 5 pseudogene 4 pseudogene pseudogene Approved 1 HGNC:28221 UBL7 ubiquitin like 7 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "BMSC-UbP|MGC14421" "bone marrow stromal cell-derived ubiquitin-like|ubiquitin-like protein SB132" "ubiquitin-like 7 (bone marrow stromal cell-derived)|ubiquitin-like 7" 2005-04-20 2015-12-01 2023-01-20 84993 ENSG00000138629 OTTHUMG00000139001 uc002axy.2 BC007913 "NM_032907|NM_201265" CCDS10263 Q96S82 12644319 MGI:1916709 RGD:1303055 609748 HGNC:28221 "ENST00000395081.7|NM_032907.5" HGNC:48614 UBL7-DT UBL7 divergent transcript non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 UBL7-AS1 UBL7 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-24 2021-04-28 2021-04-28 2021-04-28 440288 ENSG00000247240 OTTHUMG00000172644 NR_038448 UBL7-AS1 HGNC:48614 HGNC:28110 UBLCP1 ubiquitin like domain containing CTD phosphatase 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "MGC10067|CPUB1" CTD phosphatase-like with ubiquitin domain 1 ubiquitin-like domain containing CTD phosphatase 1 CTD family phosphatases 1041 2005-07-20 2015-12-01 2023-01-20 134510 ENSG00000164332 OTTHUMG00000130305 uc003lxq.2 AK057996 NM_145049 CCDS4345 Q8WVY7 15883030 MGI:1933105 RGD:1310386 609867 3.1.3.16 HGNC:28110 "ENST00000296786.8|NM_145049.5" -HGNC:12506 UBN1 ubinuclein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Protein phosphatase 1 regulatory subunits|HIRA histone chaperone complex subunits" "694|1997" 2000-02-25 2023-01-20 29855 ENSG00000118900 OTTHUMG00000129531 uc002cyb.5 AF108460 NM_016936 "CCDS10525|CCDS73822" Q9NPG3 10725330 MGI:1891307 RGD:1311582 609771 HGNC:12506 "ENST00000262376.11|NM_001079514.3" +HGNC:12506 UBN1 ubinuclein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Protein phosphatase 1 regulatory subunits|HIRA histone chaperone complex subunits" "694|1997" 2000-02-25 2023-01-20 29855 ENSG00000118900 OTTHUMG00000129531 uc002cyb.5 AF108460 NM_016936 "CCDS73822|CCDS10525" Q9NPG3 10725330 MGI:1891307 RGD:1311582 609771 HGNC:12506 "ENST00000262376.11|NM_001079514.3" HGNC:21931 UBN2 ubinuclein 2 protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ25778|KIAA2030" 2008-12-08 2023-01-20 254048 ENSG00000157741 OTTHUMG00000157623 uc011kqr.2 AK098644 NM_173569 CCDS43655 Q6ZU65 19029251 MGI:2444236 RGD:1310722 613841 HGNC:21931 "ENST00000473989.8|NM_173569.4" -HGNC:17777 UBOX5 U-box domain containing 5 protein-coding gene gene with protein product Approved 20p13 20p13 "UIP5|KIAA0860|Ubce7ip5|RNF37" "Ring finger proteins|U-box domain containing" "58|365" 2005-01-10 2023-01-20 22888 ENSG00000185019 OTTHUMG00000031731 uc002whw.5 AB020667 NM_014948 "CCDS13047|CCDS13046" O94941 11274149 MGI:2154658 RGD:1305440 619675 HGNC:17777 "ENST00000217173.7|NM_014948.4" +HGNC:17777 UBOX5 U-box domain containing 5 protein-coding gene gene with protein product Approved 20p13 20p13 "UIP5|KIAA0860|Ubce7ip5|RNF37" "Ring finger proteins|U-box domain containing" "58|365" 2005-01-10 2023-01-20 22888 ENSG00000185019 OTTHUMG00000031731 uc002whw.5 AB020667 NM_014948 "CCDS13046|CCDS13047" O94941 11274149 MGI:2154658 RGD:1305440 619675 HGNC:17777 "ENST00000217173.7|NM_014948.4" HGNC:44111 UBOX5-AS1 UBOX5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 UBOX5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100134015 ENSG00000235958 OTTHUMG00000031730 uc002whv.2 AK097516 NR_038395 UBOX5-AS1 HGNC:44111 -HGNC:12507 UBP1 upstream binding protein 1 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 LBP-1a 1996-05-13 2017-08-04 2023-01-20 7342 ENSG00000153560 OTTHUMG00000130749 uc003cfq.5 AF198487 NM_014517 "CCDS2659|CCDS46788" Q9NZI7 8114710 MGI:104889 RGD:1564700 609784 HGNC:12507 "ENST00000283629.8|NM_014517.5" +HGNC:12507 UBP1 upstream binding protein 1 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 LBP-1a 1996-05-13 2017-08-04 2023-01-20 7342 ENSG00000153560 OTTHUMG00000130749 uc003cfq.5 AF198487 NM_014517 "CCDS46788|CCDS2659" Q9NZI7 8114710 MGI:104889 RGD:1564700 609784 HGNC:12507 "ENST00000283629.8|NM_014517.5" HGNC:12508 UBQLN1 ubiquilin 1 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "DSK2|PLIC-1|XDRP1|DA41" Protein linking IAP with cytoskeleton 1 Ubiquilin family 783 2000-02-18 2023-01-20 29979 ENSG00000135018 OTTHUMG00000020104 uc004amv.4 AF176069 NM_013438 "CCDS6663|CCDS6664" Q9UMX0 "9303440|10807547" MGI:1860276 RGD:620745 605046 HGNC:12508 "ENST00000376395.9|NM_013438.5" HGNC:12508 HGNC:55518 UBQLN1-AS1 UBQLN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.32 09q21.32 Antisense RNAs 1987 2021-03-17 2021-03-17 105376114 ENSG00000254473 NR_135840 HGNC:21633 UBQLN1P1 ubiquilin 1 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 UBQLN1P ubiquilin 1 pseudogene 2003-11-27 2010-07-07 2010-07-07 2014-11-19 387117 ENSG00000236405 OTTHUMG00000031134 NG_011407 PGOHUM00000243136 HGNC:21633 @@ -41382,7 +41385,7 @@ HGNC:31133 UBQLN4P1 ubiquilin 4 pseudogene 1 pseudogene pseudogene Approved 3q24 HGNC:38662 UBQLN4P2 ubiquilin 4 pseudogene 2 pseudogene pseudogene Approved 2q23.3 02q23.3 2010-07-07 2014-11-19 100131393 ENSG00000226213 OTTHUMG00000154034 NG_028784 PGOHUM00000240987 HGNC:38662 HGNC:28294 UBQLNL ubiquilin like protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "MGC20470|MGC26958" Ubiquilin family 783 2006-11-06 2017-06-13 2023-01-20 143630 ENSG00000175518 OTTHUMG00000066903 uc001maz.5 AK127987 NM_145053 CCDS31385 Q8IYU4 24674348 MGI:2685336 RGD:1307202 HGNC:28294 "ENST00000380184.2|NM_145053.5" HGNC:16808 UBR1 ubiquitin protein ligase E3 component n-recognin 1 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 Ubiquitin protein ligase E3 component n-recognins 785 2002-01-25 2023-01-20 197131 ENSG00000159459 OTTHUMG00000130702 uc001zqq.4 NM_174916 CCDS10091 Q8IWV7 9653112 MGI:1277977 RGD:1562326 605981 120373 HGNC:16808 "ENST00000290650.9|NM_174916.3" HGNC:16808 -HGNC:21289 UBR2 ubiquitin protein ligase E3 component n-recognin 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "bA49A4.1|dJ392M17.3|KIAA0349" C6orf133 chromosome 6 open reading frame 133 Ubiquitin protein ligase E3 component n-recognins 785 2003-11-26 2005-01-12 2005-01-10 2023-01-20 23304 ENSG00000024048 OTTHUMG00000014703 uc011dur.3 BC024217 NM_015255 "CCDS87404|CCDS4870|CCDS55001" Q8IWV8 MGI:1861099 RGD:1593237 609134 HGNC:21289 "ENST00000372901.2|NM_001363705.2" +HGNC:21289 UBR2 ubiquitin protein ligase E3 component n-recognin 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "bA49A4.1|dJ392M17.3|KIAA0349" C6orf133 chromosome 6 open reading frame 133 Ubiquitin protein ligase E3 component n-recognins 785 2003-11-26 2005-01-12 2005-01-10 2023-01-20 23304 ENSG00000024048 OTTHUMG00000014703 uc011dur.3 BC024217 NM_015255 "CCDS55001|CCDS87404|CCDS4870" Q8IWV8 MGI:1861099 RGD:1593237 609134 HGNC:21289 "ENST00000372901.2|NM_001363705.2" HGNC:30467 UBR3 ubiquitin protein ligase E3 component n-recognin 3 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "KIAA2024|DKFZp434P117|FLJ37422" ZNF650 "zinc finger protein 650|ubiquitin protein ligase E3 component n-recognin 3 (putative)" Ubiquitin protein ligase E3 component n-recognins 785 2004-12-13 2007-11-29 2018-06-08 2023-01-20 130507 ENSG00000144357 OTTHUMG00000132229 uc061pjp.1 AL834144 NM_172070 CCDS2238 Q6ZT12 "17462990|21933813" MGI:1861100 RGD:1565257 613831 HGNC:30467 "ENST00000272793.11|NM_172070.4" HGNC:30313 UBR4 ubiquitin protein ligase E3 component n-recognin 4 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "KIAA1307|KIAA0462|RBAF600|p600" ZUBR1 zinc finger, UBR1 type 1 "Ubiquitin protein ligase E3 component n-recognins|Armadillo like helical domain containing" "785|1492" 2004-11-05 2007-06-19 2007-06-19 2023-01-20 23352 ENSG00000127481 OTTHUMG00000002498 uc001bbi.4 AF348492 NM_020765 CCDS189 Q5T4S7 "14702039|10718198|16055722" MGI:1916366 RGD:1563121 609890 HGNC:30313 "ENST00000375254.8|NM_020765.3" HGNC:16806 UBR5 ubiquitin protein ligase E3 component n-recognin 5 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "DD5|HYD|EDD|KIAA0896" EDD1 E3 ubiquitin protein ligase, HECT domain containing, 1 "Ubiquitin protein ligase E3 component n-recognins|HECT domain containing" "785|1959" 2005-07-08 2007-06-19 2007-06-19 2023-01-20 51366 ENSG00000104517 OTTHUMG00000164755 uc003ykr.3 AF006010 NM_015902 "CCDS34933|CCDS64946" O95071 "10030672|16055722" MGI:1918040 RGD:621236 UBR5 608413 HGNC:16806 "ENST00000520539.6|NM_015902.6" @@ -41391,7 +41394,7 @@ HGNC:20344 UBR7 ubiquitin protein ligase E3 component n-recognin 7 protein-codin HGNC:25683 UBTD1 ubiquitin domain containing 1 protein-coding gene gene with protein product Approved 10q24.1-q24.2 10q24.1-q24.2 FLJ11807 2004-05-27 2023-01-20 80019 ENSG00000165886 OTTHUMG00000018856 uc001knv.2 BC007331 NM_024954 CCDS7465 Q9HAC8 24211586 MGI:2385092 RGD:1308172 616388 HGNC:25683 "ENST00000370664.4|NM_024954.5" HGNC:24463 UBTD2 ubiquitin domain containing 2 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "DC-UbP|MGC30022" dendritic cell derived ubiquitin like protein 2006-11-06 2023-01-20 92181 ENSG00000168246 OTTHUMG00000130519 uc003mbp.2 AF251700 NM_152277 CCDS4379 Q8WUN7 12507522 MGI:2444752 RGD:1305506 610174 HGNC:24463 "ENST00000393792.3|NM_152277.3" HGNC:56554 UBTD2P1 UBTD2 pseudogene 1 pseudogene pseudogene Approved 3q24 03q24 2022-10-31 2022-10-31 100128739 ENSG00000248374 NG_022278 PGOHUM00000299620 -HGNC:12511 UBTF upstream binding transcription factor protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "UBF|NOR-90|UBF1|UBF2" upstream binding transcription factor, RNA polymerase I MicroRNA protein coding host genes 1691 1993-11-25 2018-02-02 2023-01-20 7343 ENSG00000108312 OTTHUMG00000167585 uc010czt.3 BC042297 NM_014233 "CCDS11480|CCDS42346" P17480 "9126496|29300972" MGI:98512 RGD:3927 600673 HGNC:12511 "ENST00000436088.6|NM_014233.4" HGNC:12511 +HGNC:12511 UBTF upstream binding transcription factor protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "UBF|NOR-90|UBF1|UBF2" upstream binding transcription factor, RNA polymerase I MicroRNA protein coding host genes 1691 1993-11-25 2018-02-02 2023-01-20 7343 ENSG00000108312 OTTHUMG00000167585 uc010czt.3 BC042297 NM_014233 "CCDS42346|CCDS11480" P17480 "9126496|29300972" MGI:98512 RGD:3927 600673 HGNC:12511 "ENST00000436088.6|NM_014233.4" HGNC:12511 HGNC:14533 UBTFL1 upstream binding transcription factor like 1 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 C11orf27 "chromosome 11 open reading frame 27|upstream binding transcription factor, RNA polymerase I-like 1" 2001-02-28 2008-11-20 2018-02-02 2023-01-20 642623 ENSG00000255009 OTTHUMG00000155291 uc010rub.2 NM_001143975 CCDS44704 P0CB47 19915186 MGI:3588290 613696 PGOHUM00000257917 HGNC:14533 "ENST00000530464.2|NM_001143975.1" HGNC:35169 UBTFL2 UBTF like 2 (pseudogene) pseudogene pseudogene Approved 11q14.3 11q14.3 "upstream binding transcription factor, RNA polymerase I-like 2|upstream binding transcription factor, RNA polymerase I-like 2 (pseudogene)" 2008-11-20 2018-02-02 2018-02-02 120126 ENSG00000234376 OTTHUMG00000167627 NG_012230 19915186 RGD:41128381 PGOHUM00000257847 HGNC:35169 HGNC:35402 UBTFL3 UBTF like 3 (pseudogene) pseudogene pseudogene Approved 2q11.1 02q11.1 "upstream binding transcription factor, RNA polymerase I-like 3|upstream binding transcription factor, RNA polymerase I-like 3 (pseudogene)" 2008-11-20 2018-02-02 2018-02-02 129870 ENSG00000204699 OTTHUMG00000155161 NG_023214 PGOHUM00000258145 HGNC:35402 @@ -41402,24 +41405,24 @@ HGNC:44476 UBTFL8 UBTF like 8 (pseudogene) pseudogene pseudogene Approved 3p26.1 HGNC:50286 UBTFL9 UBTF like 9 (pseudogene) pseudogene pseudogene Approved 11p11.12 11p11.12 upstream binding transcription factor, RNA polymerase I-like 9 (pseudogene) 2014-03-31 2018-02-02 2018-02-02 100128427 ENSG00000254567 OTTHUMG00000166642 NG_008910 PGOHUM00000257814 HGNC:50286 HGNC:50287 UBTFL10 UBTF like 10 (pseudogene) pseudogene pseudogene Approved 11q14.3 11q14.3 upstream binding transcription factor, RNA polymerase I-like 10 (pseudogene) 2014-03-31 2018-02-02 2018-02-02 106480293 ENSG00000255385 OTTHUMG00000167622 NG_044200 PGOHUM00000257901 HGNC:50287 HGNC:50288 UBTFL11 UBTF like 11 (pseudogene) pseudogene pseudogene Approved Xp11.4 Xp11.4 upstream binding transcription factor, RNA polymerase I-like 11 (pseudogene) 2014-03-31 2018-02-02 2018-02-02 442446 ENSG00000233007 OTTHUMG00000024088 NG_008905 PGOHUM00000241239 HGNC:50288 -HGNC:18402 UBXN1 UBX domain protein 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "LOC51035|2B28|UBXD10|SAKS1" SAPK substrate protein 1 UBX domain containing 364 2008-07-25 2008-07-25 2023-01-20 51035 ENSG00000162191 OTTHUMG00000167580 uc001nul.4 NM_015853 "CCDS73307|CCDS66105|CCDS8029" Q04323 "12838346|20351172" MGI:1289301 RGD:1309471 616378 HGNC:18402 "ENST00000301935.10|NM_001286077.2" +HGNC:18402 UBXN1 UBX domain protein 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "LOC51035|2B28|UBXD10|SAKS1" SAPK substrate protein 1 UBX domain containing 364 2008-07-25 2008-07-25 2023-01-20 51035 ENSG00000162191 OTTHUMG00000167580 uc001nul.4 NM_015853 "CCDS8029|CCDS66105|CCDS73307" Q04323 "12838346|20351172" MGI:1289301 RGD:1309471 616378 HGNC:18402 "ENST00000301935.10|NM_001286077.2" HGNC:27265 UBXN2A UBX domain protein 2A protein-coding gene gene with protein product Approved 2p23.3 02p23.3 UBXD4 UBX domain containing 4 UBX domain containing 364 2004-01-09 2008-07-25 2008-07-25 2023-01-20 165324 ENSG00000173960 OTTHUMG00000125497 uc010exy.4 BC037901 NM_181713 CCDS1704 P68543 "24625977|26634371" MGI:2442310 RGD:1589027 HGNC:27265 "ENST00000309033.5|NM_181713.4" -HGNC:27035 UBXN2B UBX domain protein 2B protein-coding gene gene with protein product Approved 8q12.1 08q12.1 p37 UBX domain containing 364 2008-07-25 2023-01-20 137886 ENSG00000215114 OTTHUMG00000164300 uc003xtl.3 AK054658 NM_001077619 "CCDS83297|CCDS43741" Q14CS0 "8619474|9110174" MGI:1915303 RGD:1308557 610686 HGNC:27035 "ENST00000399598.7|NM_001077619.2" +HGNC:27035 UBXN2B UBX domain protein 2B protein-coding gene gene with protein product Approved 8q12.1 08q12.1 p37 UBX domain containing 364 2008-07-25 2023-01-20 137886 ENSG00000215114 OTTHUMG00000164300 uc003xtl.3 AK054658 NM_001077619 "CCDS43741|CCDS83297" Q14CS0 "8619474|9110174" MGI:1915303 RGD:1308557 610686 HGNC:27035 "ENST00000399598.7|NM_001077619.2" HGNC:14860 UBXN4 UBX domain protein 4 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 KIAA0242 erasin "UBXDC1|UBXD2" "UBX domain-containing 2|UBX domain containing 2" UBX domain containing 364 2001-02-28 2008-07-25 2008-07-25 2023-01-20 23190 ENSG00000144224 OTTHUMG00000153577 uc002tur.4 D87684 NM_014607 CCDS42761 Q92575 16968747 MGI:1915062 RGD:1307451 611216 HGNC:14860 "ENST00000272638.14|NM_014607.4" HGNC:14928 UBXN6 UBX domain protein 6 protein-coding gene gene with protein product Approved 19p13 19p13 UBXDC2 UBXD1 "UBX domain-containing 1|UBX domain containing 1" UBX domain containing 364 2001-10-04 2008-07-25 2008-07-25 2023-01-20 80700 ENSG00000167671 OTTHUMG00000181954 uc002man.3 AF272893 NM_025241 "CCDS12129|CCDS54201" Q9BZV1 11342112 MGI:1913780 RGD:1590866 611946 HGNC:14928 "ENST00000301281.11|NM_025241.3" HGNC:29119 UBXN7 UBX domain protein 7 protein-coding gene gene with protein product Approved 3q29 03q29 KIAA0794 UBXD7 UBX domain containing 7 UBX domain containing 364 2006-01-06 2008-07-25 2008-07-25 2023-01-20 26043 ENSG00000163960 OTTHUMG00000155639 uc003fwm.5 AB018337 NM_015562 CCDS43191 O94888 "9872452|22537386" MGI:2146388 RGD:1306346 616379 HGNC:29119 "ENST00000296328.9|NM_015562.2" HGNC:41227 UBXN7-AS1 UBXN7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 UBXN7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-18 100874034 ENSG00000225822 OTTHUMG00000155674 uc062sbo.1 NR_046745 UBXN7-AS1 HGNC:41227 -HGNC:30307 UBXN8 UBX domain protein 8 protein-coding gene gene with protein product Approved 8p12 08p12 "D8S2298E|REP8" UBXD6 UBX domain containing 6 UBX domain containing 364 2005-08-11 2008-07-25 2008-07-25 2023-01-20 7993 ENSG00000104691 OTTHUMG00000163851 uc033bgh.2 D83767 NM_005671 "CCDS75724|CCDS75723|CCDS75725" O00124 "9027507|21949850" MGI:1337129 RGD:1306023 602155 HGNC:30307 "ENST00000265616.10|NM_005671.4" +HGNC:30307 UBXN8 UBX domain protein 8 protein-coding gene gene with protein product Approved 8p12 08p12 "D8S2298E|REP8" UBXD6 UBX domain containing 6 UBX domain containing 364 2005-08-11 2008-07-25 2008-07-25 2023-01-20 7993 ENSG00000104691 OTTHUMG00000163851 uc033bgh.2 D83767 NM_005671 "CCDS75723|CCDS75725|CCDS75724" O00124 "9027507|21949850" MGI:1337129 RGD:1306023 602155 HGNC:30307 "ENST00000265616.10|NM_005671.4" HGNC:26354 UBXN10 UBX domain protein 10 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 FLJ25429 UBXD3 UBX domain containing 3 UBX domain containing 364 2004-01-09 2008-07-25 2008-07-25 2023-01-20 127733 ENSG00000162543 OTTHUMG00000002708 uc001bdb.4 AK058158 NM_152376 CCDS205 Q96LJ8 26389662 MGI:2443123 RGD:1308335 616783 HGNC:26354 "ENST00000375099.4|NM_152376.5" HGNC:30600 UBXN11 UBX domain protein 11 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SOC|SOCI" socius UBXD5 UBX domain containing 5 UBX domain containing 364 2005-07-27 2008-07-25 2008-07-25 2023-01-20 91544 ENSG00000158062 OTTHUMG00000003382 uc057dqd.1 AF521017 NM_145345 "CCDS41286|CCDS41287|CCDS41288" Q5T124 11940653 MGI:1914836 RGD:620769 609151 HGNC:30600 "ENST00000374222.6|NM_001389556.1" HGNC:37126 UCA1 urothelial cancer associated 1 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 "LINC00178|CUDR|UCAT1|onco-lncRNA-36" "long intergenic non-protein coding RNA 178|cancer up-regulated drug resistant" urothelial cancer associated 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2009-07-15 2018-05-16 2018-05-16 652995 ENSG00000214049 OTTHUMG00000182287 uc002nbr.5 BC005351 NR_015379 "18501714|17416635|23801869|27854515" 617500 uca1 UCA1 HGNC:37126 HGNC:12513 UCHL1 ubiquitin C-terminal hydrolase L1 protein-coding gene gene with protein product Approved 4p13 04p13 "PGP9.5|Uch-L1|UCHL-1" ubiquitin thiolesterase PARK5 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) Ubiquitin C-terminal hydrolases 998 1991-07-15 2015-11-13 2023-01-20 7345 ENSG00000154277 OTTHUMG00000099377 uc003gvo.4 BC000332 NM_004181 CCDS3462 P09936 1840236 MGI:103149 RGD:3928 191342 120375 C12.001 objectId:2426 3.4.19.12 HGNC:12513 "ENST00000284440.9|NM_004181.5" HGNC:12513 HGNC:40600 UCHL1-DT UCHL1 divergent transcript non-coding RNA RNA, long non-coding Approved 4p13 04p13 UCHL1-AS1 UCHL1 antisense RNA 1 (head to head) Divergent transcripts 1990 2012-12-01 2021-03-24 2021-03-24 2021-03-24 101410542 ENSG00000251173 OTTHUMG00000160405 uc031sec.1 "DB169394|CN277289" NR_102709 UCHL1-AS1 HGNC:40600 -HGNC:12515 UCHL3 ubiquitin C-terminal hydrolase L3 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 ubiquitin thiolesterase ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) Ubiquitin C-terminal hydrolases 998 1991-07-15 2015-11-13 2023-01-20 7347 ENSG00000118939 OTTHUMG00000017090 uc001vjq.5 M30496 NM_006002 "CCDS73586|CCDS9453" P15374 2530630 MGI:1355274 RGD:1561196 603090 C12.003 objectId:2427 3.2.1.15 HGNC:12515 "ENST00000377595.8|NM_006002.5" -HGNC:19678 UCHL5 ubiquitin C-terminal hydrolase L5 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "UCH37|CGI-70|INO80R" INO80 complex subunit R ubiquitin carboxyl-terminal hydrolase L5 "INO80 complex |Ubiquitin C-terminal hydrolases" "595|998" 2002-11-11 2015-11-13 2023-01-20 51377 ENSG00000116750 OTTHUMG00000035561 uc001gsm.4 NM_015984 "CCDS55669|CCDS55670|CCDS86041|CCDS1378|CCDS55668" Q9Y5K5 "10810093|16027725" MGI:1914848 RGD:1305414 610667 C12.005 HGNC:19678 "ENST00000367454.6|NM_001199261.3" -HGNC:14859 UCK1 uridine-cytidine kinase 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "URK1|FLJ12255" 2004-05-28 2023-01-20 83549 ENSG00000130717 OTTHUMG00000020823 uc004cay.4 AF237290 NM_031432 "CCDS6944|CCDS59151|CCDS48046|CCDS59152" Q9HA47 11306702 MGI:98904 RGD:1308313 609328 2.7.1.48 HGNC:14859 "ENST00000372215.5|NM_031432.5" -HGNC:12562 UCK2 uridine-cytidine kinase 2 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 UMPK uridine monophosphate kinase MicroRNA protein coding host genes 1691 2001-06-22 2004-07-14 2004-07-13 2023-01-20 7371 ENSG00000143179 OTTHUMG00000040117 uc021pec.2 AF236637 NM_012474 "CCDS86027|CCDS1252" Q9BZX2 MGI:1931744 RGD:620742 609329 2.7.1.48 HGNC:12562 "ENST00000367879.9|NM_012474.5" -HGNC:15938 UCKL1 uridine-cytidine kinase 1 like 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 FLJ20517 URKL1 "uridine kinase-like 1|uridine-cytidine kinase 1-like 1" MicroRNA protein coding host genes 1691 2001-06-21 2004-07-13 2016-04-06 2023-01-20 54963 ENSG00000198276 OTTHUMG00000033003 uc011abm.3 AK000524 NM_017859 "CCDS13547|CCDS54479" Q9NWZ5 MGI:1915806 RGD:1565465 610866 HGNC:15938 "ENST00000354216.11|NM_017859.4" +HGNC:12515 UCHL3 ubiquitin C-terminal hydrolase L3 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 ubiquitin thiolesterase ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) Ubiquitin C-terminal hydrolases 998 1991-07-15 2015-11-13 2023-01-20 7347 ENSG00000118939 OTTHUMG00000017090 uc001vjq.5 M30496 NM_006002 "CCDS9453|CCDS73586" P15374 2530630 MGI:1355274 RGD:1561196 603090 C12.003 objectId:2427 3.2.1.15 HGNC:12515 "ENST00000377595.8|NM_006002.5" +HGNC:19678 UCHL5 ubiquitin C-terminal hydrolase L5 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "UCH37|CGI-70|INO80R" INO80 complex subunit R ubiquitin carboxyl-terminal hydrolase L5 "INO80 complex |Ubiquitin C-terminal hydrolases" "595|998" 2002-11-11 2015-11-13 2023-01-20 51377 ENSG00000116750 OTTHUMG00000035561 uc001gsm.4 NM_015984 "CCDS55669|CCDS86041|CCDS55670|CCDS1378|CCDS55668" Q9Y5K5 "10810093|16027725" MGI:1914848 RGD:1305414 610667 C12.005 HGNC:19678 "ENST00000367454.6|NM_001199261.3" +HGNC:14859 UCK1 uridine-cytidine kinase 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "URK1|FLJ12255" 2004-05-28 2023-01-20 83549 ENSG00000130717 OTTHUMG00000020823 uc004cay.4 AF237290 NM_031432 "CCDS59152|CCDS6944|CCDS48046|CCDS59151" Q9HA47 11306702 MGI:98904 RGD:1308313 609328 2.7.1.48 HGNC:14859 "ENST00000372215.5|NM_031432.5" +HGNC:12562 UCK2 uridine-cytidine kinase 2 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 UMPK uridine monophosphate kinase MicroRNA protein coding host genes 1691 2001-06-22 2004-07-14 2004-07-13 2023-01-20 7371 ENSG00000143179 OTTHUMG00000040117 uc021pec.2 AF236637 NM_012474 "CCDS1252|CCDS86027" Q9BZX2 MGI:1931744 RGD:620742 609329 2.7.1.48 HGNC:12562 "ENST00000367879.9|NM_012474.5" +HGNC:15938 UCKL1 uridine-cytidine kinase 1 like 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 FLJ20517 URKL1 "uridine kinase-like 1|uridine-cytidine kinase 1-like 1" MicroRNA protein coding host genes 1691 2001-06-21 2004-07-13 2016-04-06 2023-01-20 54963 ENSG00000198276 OTTHUMG00000033003 uc011abm.3 AK000524 NM_017859 "CCDS54479|CCDS13547" Q9NWZ5 MGI:1915806 RGD:1565465 610866 HGNC:15938 "ENST00000354216.11|NM_017859.4" HGNC:31967 UCKL1-AS1 UCKL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 FLJ46647 "UCKL1OS|UCKL1AS|UCKL1-AS" "uridine-cytidine kinase 1-like 1 opposite strand|UCKL1 antisense RNA (non-protein coding)|UCKL1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2007-07-25 2010-11-25 2012-08-15 2012-10-12 100113386 ENSG00000280213 OTTHUMG00000187354 uc061yql.1 AK128497 NR_027287 UCKL1-AS1 HGNC:31967 HGNC:25205 UCMA upper zone of growth plate and cartilage matrix associated protein-coding gene gene with protein product Approved 10p13 10p13 GRP Gla-rich protein C10orf49 chromosome 10 open reading frame 49 2004-05-27 2009-03-25 2009-03-25 2023-01-20 221044 ENSG00000165623 OTTHUMG00000017692 uc057rts.1 BC018068 NM_145314 CCDS31147 Q8WVF2 "18156182|19819238" MGI:1915777 RGD:1308977 HGNC:25205 "ENST00000378681.8|NM_145314.3" HGNC:12516 UCN urocortin protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "UROC|UI|UCN1" prepro-urocortin Neuropeptides 1902 1998-01-21 2023-01-20 7349 ENSG00000163794 OTTHUMG00000097068 uc002rjp.2 AF038633 NM_003353 CCDS1747 P55089 "9628819|861256" MGI:1276123 RGD:3929 600945 ligandId:919 HGNC:12516 "ENST00000296099.2|NM_003353.4" @@ -41428,7 +41431,7 @@ HGNC:17781 UCN3 urocortin 3 protein-coding gene gene with protein product Approv HGNC:12517 UCP1 uncoupling protein 1 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 SLC25A7 UCP uncoupling protein 1 (mitochondrial, proton carrier) Solute carrier family 25 2176 1991-08-19 2016-04-28 2023-01-20 7350 ENSG00000109424 OTTHUMG00000133415 uc011chj.3 X51955 NM_021833 CCDS3753 P25874 2380264 MGI:98894 RGD:3931 113730 SLC25A7 objectId:1066 HGNC:12517 "ENST00000262999.4|NM_021833.5" HGNC:12518 UCP2 uncoupling protein 2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 SLC25A8 BMIQ4 "body mass index QTL 4|body mass index quantitative trait 4|uncoupling protein 2 (mitochondrial, proton carrier)" Solute carrier family 25 2176 1997-07-11 2016-04-28 2023-01-20 7351 ENSG00000175567 OTTHUMG00000168095 uc001oup.2 U76367 NM_003355 CCDS8228 P55851 "9196039|11381268" MGI:109354 RGD:3932 601693 SLC25A8 298784 objectId:1067 HGNC:12518 "ENST00000663595.2|NM_003355.3" HGNC:12518 HGNC:12519 UCP3 uncoupling protein 3 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 SLC25A9 uncoupling protein 3 (mitochondrial, proton carrier) Solute carrier family 25 2176 1997-07-11 2016-04-28 2023-01-20 7352 ENSG00000175564 OTTHUMG00000168109 uc001our.4 AF001787 NM_003356 "CCDS8229|CCDS44677" P55916 "9480760|9196039" MGI:1099787 RGD:3933 602044 SLC25A9 objectId:1068 HGNC:12519 "ENST00000314032.9|NM_003356.4" -HGNC:30866 UEVLD UEV and lactate/malate dehyrogenase domains protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "Attp|UEV3" 2006-07-14 2023-01-20 55293 ENSG00000151116 OTTHUMG00000167729 uc001mot.5 AF503350 NM_018314 "CCDS58125|CCDS7843|CCDS58122|CCDS58124|CCDS41624|CCDS58123|CCDS73266" Q8IX04 12427560 MGI:1860490 RGD:1587416 610985 HGNC:30866 "ENST00000396197.8|NM_001040697.4" +HGNC:30866 UEVLD UEV and lactate/malate dehyrogenase domains protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "Attp|UEV3" 2006-07-14 2023-01-20 55293 ENSG00000151116 OTTHUMG00000167729 uc001mot.5 AF503350 NM_018314 "CCDS58122|CCDS58123|CCDS58124|CCDS41624|CCDS58125|CCDS73266|CCDS7843" Q8IX04 12427560 MGI:1860490 RGD:1587416 610985 HGNC:30866 "ENST00000396197.8|NM_001040697.4" HGNC:26941 UFC1 ubiquitin-fold modifier conjugating enzyme 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 HSPC155 2005-05-27 2023-01-20 51506 ENSG00000143222 OTTHUMG00000033155 uc001fyd.5 AF161504 NM_016406 CCDS1220 Q9Y3C8 "15071506|11042152" MGI:1913405 RGD:1303313 610554 HGNC:26941 "ENST00000368003.6|NM_016406.4" HGNC:26941 HGNC:56788 UFC1P1 UFC1 pseudogene 1 pseudogene pseudogene Approved 7q21.11 07q21.11 2023-04-18 2023-04-18 100124402 ENSG00000226230 NG_011487 PGOHUM00000302828 HGNC:12520 UFD1 ubiquitin recognition factor in ER associated degradation 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 UFD1L "ubiquitin fusion degradation 1-like|ubiquitin fusion degradation 1 like (yeast)" 1997-05-09 2017-02-21 2017-02-21 2023-01-20 7353 ENSG00000070010 OTTHUMG00000150130 uc002zpm.3 AJ239058 NM_001035247 "CCDS33600|CCDS13761" Q92890 9063746 MGI:109353 RGD:619822 601754 159084 HGNC:12520 "ENST00000263202.15|NM_005659.7" @@ -41442,32 +41445,32 @@ HGNC:55148 UFM1P3 UFM1 pseudogene 3 pseudogene pseudogene Approved 8q22.2 08q22. HGNC:33821 UFSP1 UFM1 specific peptidase 1 (inactive) protein-coding gene gene with protein product Approved 7q22.1 07q22.1 UFSP UFM1-specific peptidase 1 (non-functional) 2008-03-25 2016-07-04 2023-01-20 402682 ENSG00000176125 OTTHUMG00000159662 uc003uxc.4 AF312032 NM_001015072 CCDS34710 Q6NVU6 "17182609|18321862" MGI:1917490 RGD:7536909 611481 C78.001 HGNC:33821 "ENST00000388761.4|NM_001015072.4" HGNC:25640 UFSP2 UFM1 specific peptidase 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 FLJ11200 C4orf20 chromosome 4 open reading frame 20 2006-03-24 2008-03-25 2016-07-04 2023-01-20 55325 ENSG00000109775 OTTHUMG00000160441 uc003ixo.3 AK002062 NM_018359 CCDS3842 Q9NUQ7 17182609 MGI:1913679 RGD:1311161 611482 436858 HGNC:25640 "ENST00000264689.11|NM_018359.5" HGNC:25640 HGNC:12524 UGCG UDP-glucose ceramide glucosyltransferase protein-coding gene gene with protein product Approved 9q31.3 09q31.3 GCS "glucosylceramide synthase|ceramide glucosyltransferase" "UDP-glucose ceramide glucosyltransferases|MicroRNA protein coding host genes" "450|1691" 1997-08-28 2023-01-20 7357 ENSG00000148154 OTTHUMG00000020498 uc004bft.4 D50840 NM_003358 CCDS6782 Q16739 "8643456|9605861" MGI:1332243 RGD:621870 602874 objectId:2528 2.4.1.80 HGNC:12524 "ENST00000374279.4|NM_003358.3" HGNC:12524 -HGNC:12525 UGDH UDP-glucose 6-dehydrogenase protein-coding gene gene with protein product Approved 4p14 04p14 "GDH|UDPGDH|UDP-GlcDH|UGD" uridine-diphospho glucose dehydrogenase UDP-glucose dehydrogenase 1997-12-01 2010-04-28 2023-01-20 7358 ENSG00000109814 OTTHUMG00000099371 uc003guk.3 AF061016 NM_003359 "CCDS54758|CCDS3455|CCDS54757" O60701 "9737970|10575217" MGI:1306785 RGD:621879 603370 1.1.1.22 HGNC:12525 "ENST00000316423.11|NM_003359.4" HGNC:12525 +HGNC:12525 UGDH UDP-glucose 6-dehydrogenase protein-coding gene gene with protein product Approved 4p14 04p14 "GDH|UDPGDH|UDP-GlcDH|UGD" uridine-diphospho glucose dehydrogenase UDP-glucose dehydrogenase 1997-12-01 2010-04-28 2023-01-20 7358 ENSG00000109814 OTTHUMG00000099371 uc003guk.3 AF061016 NM_003359 "CCDS3455|CCDS54758|CCDS54757" O60701 "9737970|10575217" MGI:1306785 RGD:621879 603370 1.1.1.22 HGNC:12525 "ENST00000316423.11|NM_003359.4" HGNC:12525 HGNC:40601 UGDH-AS1 UGDH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p14 04p14 UGDH antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-07 2012-08-15 2018-06-15 100885776 ENSG00000249348 OTTHUMG00000160540 uc003gum.3 NR_047679 29901136 UGDH-AS1 HGNC:40601 HGNC:15663 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 HUGT1 UGCGL1 UDP-glucose ceramide glucosyltransferase-like 1 UDP-glucose glycoprotein glucosyltransferases 440 2001-06-05 2009-07-23 2009-07-23 2023-03-15 56886 ENSG00000136731 OTTHUMG00000131570 uc002tps.4 AF227905 NM_020120 CCDS2154 Q9NYU2 10694380 MGI:2443162 RGD:619710 605897 HGNC:15663 "ENST00000259253.11|NM_020120.4" HGNC:15664 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "FLJ11485|HUGT2|FLJ10873|MGC150689|MGC87276|MGC117360" UDP-glucose:glycoprotein glucosyltransferase 2 UGCGL2 UDP-glucose ceramide glucosyltransferase-like 2 UDP-glucose glycoprotein glucosyltransferases 440 2001-06-05 2009-07-23 2009-07-23 2023-01-20 55757 ENSG00000102595 OTTHUMG00000017230 uc001vmt.5 AF227906 NM_020121 CCDS9480 Q9NYU1 10694380 MGI:1913685 RGD:1563520 605898 HGNC:15664 "ENST00000376747.8|NM_020121.4" -HGNC:12527 UGP2 UDP-glucose pyrophosphorylase 2 protein-coding gene gene with protein product Approved 2p15 02p15 "UGPP1|SVUGP2" UTP--glucose-1-phosphate uridylyltransferase UGP1 UDP-glucose pyrophosphorylase 1 2001-06-22 2023-01-20 7360 ENSG00000169764 OTTHUMG00000129513 uc002scm.4 NM_006759 "CCDS1875|CCDS42690" Q16851 MGI:2183447 RGD:1310210 191760 2.7.7.9 HGNC:12527 "ENST00000337130.10|NM_006759.4" HGNC:12527 +HGNC:12527 UGP2 UDP-glucose pyrophosphorylase 2 protein-coding gene gene with protein product Approved 2p15 02p15 "UGPP1|SVUGP2" UTP--glucose-1-phosphate uridylyltransferase UGP1 UDP-glucose pyrophosphorylase 1 2001-06-22 2023-01-20 7360 ENSG00000169764 OTTHUMG00000129513 uc002scm.4 NM_006759 "CCDS42690|CCDS1875" Q16851 MGI:2183447 RGD:1310210 191760 2.7.7.9 HGNC:12527 "ENST00000337130.10|NM_006759.4" HGNC:12527 HGNC:12529 UGT1A UDP glucuronosyltransferase family 1 member A complex locus protein-coding gene gene with protein product Approved 2q37 02q37 UGT UGT1A@ "UDP glycosyltransferase 1 family, polypeptide A cluster|UDP glucuronosyltransferase 1 family, polypeptide A cluster|UDP glucuronosyltransferase 1 family, polypeptide A complex locus" UDP glucuronosyltransferases 363 1997-09-05 2010-03-05 2016-03-01 2016-03-01 7361 NG_002601 HGNC:12529 HGNC:12530 UGT1A1 UDP glucuronosyltransferase family 1 member A1 other complex locus constituent Approved 2q37.1 02q37.1 UGT1A "UGT1|GNT1" UDP glycosyltransferase 1 family, polypeptide A1 UDP glucuronosyltransferases 363 1989-02-13 2016-03-01 2023-01-20 54658 ENSG00000241635 OTTHUMG00000059117 uc002vvb.4 M57899 NM_000463 CCDS2510 P22309 "9295054|9535849" MGI:98898 RGD:3935 LRG_733|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_733.xml 191740 120380 objectId:2990 2.4.1.17 HGNC:12530 "ENST00000305208.10|NM_000463.3" HGNC:12530 HGNC:12534 UGT1A2P UDP glucuronosyltransferase family 1 member A2, pseudogene other complex locus constituent Approved 2q37.1 02q37.1 UGT1BP UDP glycosyltransferase 1 family, polypeptide A2 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54580 ENSG00000228445 OTTHUMG00000059035 M84126 NG_002601 "9295054|1339448" PGOHUM00000298916 HGNC:12534 HGNC:12535 UGT1A3 UDP glucuronosyltransferase family 1 member A3 other complex locus constituent Approved 2q37.1 02q37.1 UGT1C UDP glycosyltransferase 1 family, polypeptide A3 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2023-01-20 54659 ENSG00000288702 OTTHUMG00000059118 uc002vuy.4 M84127 NM_019093 CCDS2509 P35503 "9295054|1339448|11434514" MGI:3576049 RGD:1549741 606428 HGNC:12535 "ENST00000482026.6|NM_019093.4" HGNC:12536 UGT1A4 UDP glucuronosyltransferase family 1 member A4 other complex locus constituent Approved 2q37.1 02q37.1 "HUG-BR2|UGT1D" UDP glycosyltransferase 1 family, polypeptide A4 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2023-01-20 54657 ENSG00000244474 OTTHUMG00000059119 uc002vux.4 M84128 NM_007120 CCDS33405 P22310 "9295054|1339448" MGI:3032634 RGD:1583689 606429 471290 HGNC:12536 "ENST00000373409.8|NM_007120.3" HGNC:12537 UGT1A5 UDP glucuronosyltransferase family 1 member A5 other complex locus constituent Approved 2q37.1 02q37.1 UGT1E UDP glycosyltransferase 1 family, polypeptide A5 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2023-01-20 54579 ENSG00000288705 OTTHUMG00000059120 uc002vuw.4 M84129 NM_019078 CCDS33404 P35504 "9295054|1339448" "MGI:3032634|MGI:3576049" RGD:1549728 606430 HGNC:12537 "ENST00000373414.4|NM_019078.2" -HGNC:12538 UGT1A6 UDP glucuronosyltransferase family 1 member A6 other complex locus constituent Approved 2q37.1 02q37.1 "HLUGP|GNT1|UGT1F" UDP glycosyltransferase 1 family, polypeptide A6 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2023-01-20 54578 ENSG00000167165 OTTHUMG00000059122 uc002vuv.5 M84130 NM_205862 "CCDS2508|CCDS2507" P19224 "9295054|1339448" "MGI:2137698|MGI:3580629" RGD:620949 606431 HGNC:12538 "ENST00000305139.11|NM_001072.4" +HGNC:12538 UGT1A6 UDP glucuronosyltransferase family 1 member A6 other complex locus constituent Approved 2q37.1 02q37.1 "HLUGP|GNT1|UGT1F" UDP glycosyltransferase 1 family, polypeptide A6 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2023-01-20 54578 ENSG00000167165 OTTHUMG00000059122 uc002vuv.5 M84130 NM_205862 "CCDS2507|CCDS2508" P19224 "9295054|1339448" "MGI:2137698|MGI:3580629" RGD:620949 606431 HGNC:12538 "ENST00000305139.11|NM_001072.4" HGNC:12539 UGT1A7 UDP glucuronosyltransferase family 1 member A7 other complex locus constituent Approved 2q37.1 02q37.1 UGT1G UDP glycosyltransferase 1 family, polypeptide A7 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2023-01-20 54577 ENSG00000244122 OTTHUMG00000059004 uc002vut.4 U39570 NM_019077 CCDS2506 Q9HAW7 "9295054|11434514" "MGI:3032636|MGI:3576090|MGI:3576092|MGI:3580642" 606432 471292 HGNC:12539 "ENST00000373426.4|NM_019077.3" -HGNC:12540 UGT1A8 UDP glucuronosyltransferase family 1 member A8 other complex locus constituent Approved 2q37.1 02q37.1 UGT1H UDP glycosyltransferase 1 family, polypeptide A8 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2023-01-20 54576 ENSG00000242366 OTTHUMG00000059123 uc002vup.4 U42604 NM_019076 CCDS33402 Q9HAW9 "9295054|12042666" "MGI:3032636|MGI:3576090|MGI:3576092|MGI:3580642" 606433 HGNC:12540 "ENST00000373450.5|NM_019076.5" +HGNC:12540 UGT1A8 UDP glucuronosyltransferase family 1 member A8 other complex locus constituent Approved 2q37.1 02q37.1 UGT1H UDP glycosyltransferase 1 family, polypeptide A8 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2023-01-20 54576 ENSG00000242366 OTTHUMG00000059123 uc002vup.4 U42604 NM_019076 CCDS33402 Q9HAW9 "9295054|12042666" "MGI:3032636|MGI:3576090|MGI:3576092|MGI:3580642" RGD:708474 606433 HGNC:12540 "ENST00000373450.5|NM_019076.5" HGNC:12541 UGT1A9 UDP glucuronosyltransferase family 1 member A9 other complex locus constituent Approved 2q37.1 02q37.1 "HLUGP4|LUGP4|UGT1AI" UDP glycosyltransferase 1 family, polypeptide A9 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2023-01-20 54600 ENSG00000241119 OTTHUMG00000059124 uc002vus.4 AF056188 NM_021027 CCDS2505 O60656 "9295054|1910331" "MGI:3032636|MGI:3576090|MGI:3576092|MGI:3580642" RGD:1549771 606434 HGNC:12541 "ENST00000354728.5|NM_021027.3" HGNC:12531 UGT1A10 UDP glucuronosyltransferase family 1 member A10 other complex locus constituent Approved 2q37.1 02q37.1 UGT1J UDP glycosyltransferase 1 family, polypeptide A10 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2023-01-20 54575 ENSG00000242515 OTTHUMG00000059121 uc002vur.4 U39550 NM_019075 CCDS33403 Q9HAW8 "9295054|9325166" "MGI:3032636|MGI:3576090|MGI:3576092|MGI:3580642" 606435 HGNC:12531 "ENST00000344644.10|NM_019075.4" HGNC:12532 UGT1A11P UDP glucuronosyltransferase family 1 member A11, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 UGT1K UDP glycosyltransferase 1 family, polypeptide A11 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-10-05 54574 ENSG00000227846 OTTHUMG00000059006 U39551 NG_001284 9295054 PGOHUM00000298914 HGNC:12532 HGNC:12533 UGT1A12P UDP glucuronosyltransferase family 1 member A12, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 UGT1L UDP glycosyltransferase 1 family, polypeptide A12 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54573 ENSG00000228949 OTTHUMG00000059116 U39552 NG_002601 9295054 PGOHUM00000298913 HGNC:12533 HGNC:32191 UGT1A13P UDP glucuronosyltransferase family 1 member A13, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 UDP glucuronosyltransferase 1 family, polypeptide A13 pseudogene UDP glucuronosyltransferases 363 2005-08-09 2016-03-01 2016-03-01 404204 ENSG00000234143 OTTHUMG00000059007 AF297093 NG_023770 11434514 PGOHUM00000298915 HGNC:32191 -HGNC:12542 UGT2A1 UDP glucuronosyltransferase family 2 member A1 complex locus protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "UDP glycosyltransferase 2 family, polypeptide A1|UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus" UDP glucuronosyltransferases 363 1999-08-12 2016-03-01 2023-01-20 10941 ENSG00000173610 OTTHUMG00000184942 uc062xbf.1 AJ006054 NM_006798 "CCDS58902|CCDS58901|CCDS77925|CCDS3529" P0DTE4 10359671 MGI:2149905 RGD:69432 604716 HGNC:12542 "ENST00000286604.9|NM_001252275.3" -HGNC:28183 UGT2A2 UDP glucuronosyltransferase family 2 member A2 other complex locus constituent Approved 4q13.3 04q13.3 UDP glucuronosyltransferase 2 family, polypeptide A2 UDP glucuronosyltransferases 363 2005-07-20 2016-03-01 2023-01-20 574537 ENSG00000271271 OTTHUMG00000129398 uc010ihs.4 NM_001105677 "CCDS77924|CCDS56331" P0DTE5 MGI:3576095 RGD:1303291 619809 HGNC:28183 "ENST00000604629.6|NM_001105677.2" +HGNC:12542 UGT2A1 UDP glucuronosyltransferase family 2 member A1 complex locus protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "UDP glycosyltransferase 2 family, polypeptide A1|UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus" UDP glucuronosyltransferases 363 1999-08-12 2016-03-01 2023-01-20 10941 ENSG00000173610 OTTHUMG00000184942 uc062xbf.1 AJ006054 NM_006798 "CCDS3529|CCDS58902|CCDS77925|CCDS58901" P0DTE4 10359671 MGI:2149905 RGD:69432 604716 HGNC:12542 "ENST00000286604.9|NM_001252275.3" +HGNC:28183 UGT2A2 UDP glucuronosyltransferase family 2 member A2 other complex locus constituent Approved 4q13.3 04q13.3 UDP glucuronosyltransferase 2 family, polypeptide A2 UDP glucuronosyltransferases 363 2005-07-20 2016-03-01 2023-01-20 574537 ENSG00000271271 OTTHUMG00000129398 uc010ihs.4 NM_001105677 "CCDS56331|CCDS77924" P0DTE5 MGI:3576095 RGD:1303291 619809 HGNC:28183 "ENST00000604629.6|NM_001105677.2" HGNC:28528 UGT2A3 UDP glucuronosyltransferase family 2 member A3 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 FLJ21934 UDP glucuronosyltransferase 2 family, polypeptide A3 UDP glucuronosyltransferases 363 2005-07-20 2016-03-01 2023-01-20 79799 ENSG00000135220 OTTHUMG00000129408 uc003hef.3 NM_024743 CCDS3525 Q6UWM9 MGI:1919344 RGD:1308444 616382 HGNC:28528 "ENST00000251566.9|NM_024743.4" HGNC:39429 UGT2A3P7 UDP glucuronosyltransferase family 2 member A3 pseudogene 7 pseudogene pseudogene Approved 4q13.3 04q13.3 UDP glucuronosyltransferase 2 family, polypeptide A3 pseudogene 7 2010-12-14 2016-03-01 2016-03-01 100422023 ENSG00000248886 OTTHUMG00000161619 NG_025126 PGOHUM00000299879 HGNC:39429 HGNC:12553 UGT2B4 UDP glucuronosyltransferase family 2 member B4 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 UGT2B11 UDP glycosyltransferase 2 family, polypeptide B4 UDP glucuronosyltransferases 363 1997-07-01 2016-03-01 2023-01-20 7363 ENSG00000156096 OTTHUMG00000058891 uc003hek.4 BC026264 NM_021139 "CCDS43234|CCDS75137" P06133 "3109396|7835904" MGI:1919023 600067 HGNC:12553 "ENST00000305107.7|NM_021139.3" -HGNC:12554 UGT2B7 UDP glucuronosyltransferase family 2 member B7 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UGT2B9 UDP glycosyltransferase 2 family, polypeptide B7 UDP glucuronosyltransferases 363 1997-07-01 2016-03-01 2023-01-20 7364 ENSG00000171234 OTTHUMG00000129404 uc003heg.4 BC030974 NM_001074 "CCDS3526|CCDS82930" P16662 "2159463|7835904" "MGI:1919023|MGI:3576100|MGI:3576103" RGD:708417 600068 HGNC:12554 "ENST00000305231.12|NM_001074.4" -HGNC:12544 UGT2B10 UDP glucuronosyltransferase family 2 member B10 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B10 UDP glucuronosyltransferases 363 1997-07-01 2016-03-01 2023-01-20 7365 ENSG00000109181 OTTHUMG00000161505 uc003hee.4 X63359 NM_001075 "CCDS75136|CCDS75135" P36537 8333863 "MGI:1919023|MGI:2140962" 600070 HGNC:12544 "ENST00000265403.12|NM_001075.6" +HGNC:12554 UGT2B7 UDP glucuronosyltransferase family 2 member B7 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UGT2B9 UDP glycosyltransferase 2 family, polypeptide B7 UDP glucuronosyltransferases 363 1997-07-01 2016-03-01 2023-01-20 7364 ENSG00000171234 OTTHUMG00000129404 uc003heg.4 BC030974 NM_001074 "CCDS82930|CCDS3526" P16662 "2159463|7835904" "MGI:1919023|MGI:3576100|MGI:3576103" RGD:708417 600068 HGNC:12554 "ENST00000305231.12|NM_001074.4" +HGNC:12544 UGT2B10 UDP glucuronosyltransferase family 2 member B10 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B10 UDP glucuronosyltransferases 363 1997-07-01 2016-03-01 2023-01-20 7365 ENSG00000109181 OTTHUMG00000161505 uc003hee.4 X63359 NM_001075 "CCDS75135|CCDS75136" P36537 8333863 "MGI:1919023|MGI:2140962" 600070 HGNC:12544 "ENST00000265403.12|NM_001075.6" HGNC:12545 UGT2B11 UDP glucuronosyltransferase family 2 member B11 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B11 UDP glucuronosyltransferases 363 1998-09-29 2016-03-01 2023-01-20 10720 ENSG00000213759 OTTHUMG00000129395 uc062xas.1 AF016492 NM_001073 CCDS3527 O75310 9675083 MGI:1919023 603064 HGNC:12545 "ENST00000446444.2|NM_001073.3" HGNC:12546 UGT2B15 UDP glucuronosyltransferase family 2 member B15 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UGT2B8 UDP glycosyltransferase 2 family, polypeptide B15 UDP glucuronosyltransferases 363 1997-07-01 2016-03-01 2023-01-20 7366 ENSG00000196620 OTTHUMG00000161507 uc062xap.1 AF180322 NM_001076 CCDS3524 P54855 7835904 MGI:1919023 600069 HGNC:12546 "ENST00000338206.6|NM_001076.4" HGNC:12547 UGT2B17 UDP glucuronosyltransferase family 2 member B17 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B17 "UDP glucuronosyltransferases|Minor histocompatibility antigens" "363|870" 1997-07-01 2016-03-01 2023-01-20 7367 ENSG00000197888 OTTHUMG00000129305 uc021xov.2 U59209 NM_001077 CCDS3523 O75795 8798464 MGI:1919023 RGD:708541 601903 HGNC:12547 "ENST00000317746.3|NM_001077.4" @@ -41475,13 +41478,13 @@ HGNC:12548 UGT2B24P UDP glucuronosyltransferase family 2 member B24, pseudogene HGNC:12549 UGT2B25P UDP glucuronosyltransferase family 2 member B25, pseudogene pseudogene pseudogene Approved 4q13.2-q13.3 04q13.2-q13.3 "UDP glycosyltransferase 2 family, polypeptide B25 pseudogene|UDP glucuronosyltransferase 2 family, polypeptide B25 pseudogene" UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2018-02-13 54571 ENSG00000215110 OTTHUMG00000161617 AF179877 NG_001281 10623541 PGOHUM00000300253 HGNC:12549 HGNC:12550 UGT2B26P UDP glucuronosyltransferase family 2 member B26, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B26 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54570 ENSG00000250919 OTTHUMG00000161514 AF179878 NG_001280 10623541 PGOHUM00000300242 HGNC:12550 HGNC:12551 UGT2B27P UDP glucuronosyltransferase family 2 member B27, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B27 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54569 ENSG00000251685 OTTHUMG00000161513 AF179879 NG_001279 10623541 PGOHUM00000299875 HGNC:12551 -HGNC:13479 UGT2B28 UDP glucuronosyltransferase family 2 member B28 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B28 UDP glucuronosyltransferases 363 2001-06-25 2016-03-01 2023-01-20 54490 ENSG00000135226 OTTHUMG00000129401 uc003hej.3 AF177272 NM_053039 "CCDS3528|CCDS56330" Q9BY64 11300766 "MGI:98900|MGI:1919023|MGI:2140794|MGI:2148239" RGD:1559459 606497 HGNC:13479 "ENST00000335568.10|NM_053039.2" +HGNC:13479 UGT2B28 UDP glucuronosyltransferase family 2 member B28 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B28 UDP glucuronosyltransferases 363 2001-06-25 2016-03-01 2023-01-20 54490 ENSG00000135226 OTTHUMG00000129401 uc003hej.3 AF177272 NM_053039 "CCDS56330|CCDS3528" Q9BY64 11300766 "MGI:98900|MGI:1919023|MGI:2140794|MGI:2148239" RGD:1559459 606497 HGNC:13479 "ENST00000335568.10|NM_053039.2" HGNC:12552 UGT2B29P UDP glucuronosyltransferase family 2 member B29, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B28 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54568 ENSG00000250566 OTTHUMG00000160743 AF179880 NG_001278 10623541 PGOHUM00000299862 HGNC:12552 HGNC:26625 UGT3A1 UDP glycosyltransferase family 3 member A1 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 FLJ34658 UDP glycosyltransferase 3 family, polypeptide A1 UDP glucuronosyltransferases 363 2005-07-20 2016-03-01 2023-01-20 133688 ENSG00000145626 OTTHUMG00000131107 uc003jjv.3 NM_152404 "CCDS3913|CCDS54841" Q6NUS8 "MGI:2146055|MGI:2145969" RGD:1564365 616383 HGNC:26625 "ENST00000274278.8|NM_152404.4" HGNC:27266 UGT3A2 UDP glycosyltransferase family 3 member A2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 UDP glycosyltransferase 3 family, polypeptide A2 UDP glucuronosyltransferases 363 2005-07-20 2016-03-01 2023-01-20 167127 ENSG00000168671 OTTHUMG00000131108 uc003jjz.3 NM_174914 "CCDS54842|CCDS3914" Q3SY77 12975309 "MGI:2146055|MGI:2145969" 616384 HGNC:27266 "ENST00000282507.8|NM_174914.4" HGNC:12555 UGT8 UDP glycosyltransferase 8 protein-coding gene gene with protein product Approved 4q26 04q26 2-hydroxyacylsphingosine 1-beta-galactosyltransferase CGT UDP-galactose ceramide galactosyltransferase "UDP glucuronosyltransferases|MicroRNA protein coding host genes" "363|1691" 1996-10-02 2005-07-20 2008-07-31 2023-01-20 7368 ENSG00000174607 OTTHUMG00000132915 uc003ibs.3 AK127970 NM_003360 CCDS3705 Q16880 8661025 MGI:109522 RGD:3938 601291 2.4.1.47 HGNC:12555 "ENST00000310836.11|NM_001128174.3" -HGNC:19683 UHMK1 U2AF homology motif kinase 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "KIS|Kist" U2AF homology motif (UHM) kinase 1 RNA binding motif containing 725 2004-12-09 2016-08-10 2023-01-20 127933 ENSG00000152332 OTTHUMG00000031373 uc001gcc.3 BC026046 NM_175866 "CCDS53424|CCDS1239|CCDS53423" Q8TAS1 "12093740|12782393" MGI:1341908 RGD:2968 608849 objectId:2270 HGNC:19683 "ENST00000489294.2|NM_175866.5" -HGNC:12556 UHRF1 ubiquitin like with PHD and ring finger domains 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ICBP90|Np95|FLJ21925|RNF106|TDRD22" inverted CCAAT box binding protein 90 "Ring finger proteins|PHD finger proteins|Tudor domain containing|MicroRNA protein coding host genes" "58|88|780|1691" 2000-03-15 2016-03-02 2023-01-20 29128 ENSG00000276043 OTTHUMG00000180251 uc060rzz.1 AF129507 NM_001048201 "CCDS74262|CCDS74263" Q96T88 "10646863|28100769" MGI:1338889 RGD:1595855 607990 HGNC:12556 "ENST00000650932.1|NM_001048201.3" +HGNC:19683 UHMK1 U2AF homology motif kinase 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "KIS|Kist" U2AF homology motif (UHM) kinase 1 RNA binding motif containing 725 2004-12-09 2016-08-10 2023-01-20 127933 ENSG00000152332 OTTHUMG00000031373 uc001gcc.3 BC026046 NM_175866 "CCDS53423|CCDS53424|CCDS1239" Q8TAS1 "12093740|12782393" MGI:1341908 RGD:2968 608849 objectId:2270 HGNC:19683 "ENST00000489294.2|NM_175866.5" +HGNC:12556 UHRF1 ubiquitin like with PHD and ring finger domains 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ICBP90|Np95|FLJ21925|RNF106|TDRD22" inverted CCAAT box binding protein 90 "Ring finger proteins|PHD finger proteins|Tudor domain containing|MicroRNA protein coding host genes" "58|88|780|1691" 2000-03-15 2016-03-02 2023-01-20 29128 ENSG00000276043 OTTHUMG00000180251 uc060rzz.1 AF129507 NM_001048201 "CCDS74263|CCDS74262" Q96T88 "10646863|28100769" MGI:1338889 RGD:1595855 607990 HGNC:12556 "ENST00000650932.1|NM_001048201.3" HGNC:12557 UHRF2 ubiquitin like with PHD and ring finger domains 2 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "RNF107|NIRF|URF2|MGC33463|TDRD23" Np95-like ring finger protein ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase "Ring finger proteins|PHD finger proteins|Tudor domain containing" "58|88|780" 2000-03-15 2016-03-02 2023-03-15 115426 ENSG00000147854 OTTHUMG00000019521 uc003zjy.4 AF274049 NM_152306 CCDS6469 Q96PU4 "12176013|28115522" MGI:1923718 RGD:1309990 615211 HGNC:12557 "ENST00000276893.10|NM_152896.3" HGNC:39565 UHRF2P1 ubiquitin like with PHD and ring finger domains 2 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 2011-03-09 2016-03-02 2016-03-02 260337 ENSG00000223650 OTTHUMG00000021844 NG_002342 PGOHUM00000258439 HGNC:39565 HGNC:54869 UICLM up-regulated in colorectal cancer liver metastasis non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 CROCC2-AS1 CROCC2 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2020-04-01 2020-04-01 200772 ENSG00000233392 NR_033841 29187907 @@ -41491,7 +41494,7 @@ HGNC:14894 ULBP2 UL16 binding protein 2 protein-coding gene gene with protein pr HGNC:14895 ULBP3 UL16 binding protein 3 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 RAET1N 2001-04-27 2023-01-20 79465 ENSG00000131019 OTTHUMG00000015811 uc063sfx.1 AF304379 NM_024518 CCDS5225 Q9BZM4 "11239445|11827464" MGI:3588256 605699 HGNC:14895 "ENST00000367339.7|NM_024518.3" HGNC:12558 ULK1 unc-51 like autophagy activating kinase 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "ATG1|ATG1A" ATG1 autophagy related 1 homolog (S. cerevisiae) "unc-51 (C. elegans)-like kinase 1|unc-51-like kinase 1 (C. elegans)" Autophagy related 1022 1998-09-03 2013-07-02 2023-01-20 8408 ENSG00000177169 OTTHUMG00000168052 uc001uje.4 AF045458 NM_003565 CCDS9274 O75385 9693035 MGI:1270126 RGD:1589743 603168 objectId:2271 HGNC:12558 "ENST00000321867.6|NM_003565.4" HGNC:13480 ULK2 unc-51 like autophagy activating kinase 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "KIAA0623|Unc51.2|ATG1B" "unc-51 (C. elegans)-like kinase 2|unc-51-like kinase 2 (C. elegans)" Autophagy related 1022 2001-11-23 2013-07-02 2023-01-20 9706 ENSG00000083290 OTTHUMG00000059511 uc002gwm.5 AB014523 NM_014683 CCDS11213 Q8IYT8 10557072 MGI:1352758 RGD:1310181 608650 objectId:2272 2.7.11.1 HGNC:13480 "ENST00000395544.9|NM_014683.4" -HGNC:19703 ULK3 unc-51 like kinase 3 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "DKFZP434C131|FLJ90566" unc-51-like kinase 3 (C. elegans) MicroRNA protein coding host genes 1691 2005-01-19 2013-07-02 2023-01-20 25989 ENSG00000140474 OTTHUMG00000173020 uc059llp.1 BC048289 NM_015518 "CCDS45305|CCDS76779|CCDS92044" Q6PHR2 MGI:1918992 RGD:1587417 613472 objectId:2273 HGNC:19703 "ENST00000440863.7|NM_001099436.4" +HGNC:19703 ULK3 unc-51 like kinase 3 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "DKFZP434C131|FLJ90566" unc-51-like kinase 3 (C. elegans) MicroRNA protein coding host genes 1691 2005-01-19 2013-07-02 2023-01-20 25989 ENSG00000140474 OTTHUMG00000173020 uc059llp.1 BC048289 NM_015518 "CCDS76779|CCDS45305|CCDS92044" Q6PHR2 MGI:1918992 RGD:1587417 613472 objectId:2273 HGNC:19703 "ENST00000440863.7|NM_001099436.4" HGNC:15784 ULK4 unc-51 like kinase 4 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "FLJ20574|REC01035|FAM7C1" unc-51-like kinase 4 (C. elegans) Armadillo like helical domain containing 1492 2005-01-19 2013-07-02 2023-01-20 54986 ENSG00000168038 OTTHUMG00000156210 uc003ckv.5 AK000581 NM_017886 CCDS43071 Q96C45 27569546 MGI:1921622 RGD:1565726 617010 objectId:2274 HGNC:15784 "ENST00000301831.9|NM_017886.4" HGNC:15784 HGNC:15775 ULK4P1 ULK4 pseudogene 1 pseudogene pseudogene Approved 15q13.3 15q13.3 D-X FAM7A1 "family with sequence similarity 7, member A1|family with sequence similarity 7, member A1 (non-protein coding)|unc-51-like kinase 4 (C. elegans) pseudogene 1" 2001-06-29 2011-11-25 2013-09-12 2014-11-19 89838 ENSG00000261279 OTTHUMG00000162940 BC070492 XR_041690 11829490 PGOHUM00000246727 HGNC:15775 HGNC:15776 ULK4P2 ULK4 pseudogene 2 pseudogene pseudogene Approved 15q13.2 15q13.2 D-X FAM7A2 "family with sequence similarity 7, member A2|unc-51-like kinase 4 (C. elegans) pseudogene 2" 2001-06-29 2011-11-25 2013-09-12 2020-04-20 100288380 ENSG00000260128 OTTHUMG00000175653 NR_027470 11829490 PGOHUM00000262914 HGNC:15776 @@ -41499,7 +41502,7 @@ HGNC:15777 ULK4P3 ULK4 pseudogene 3 pseudogene pseudogene Approved 15q13.2 15q13 HGNC:48955 UMAD1 UBAP1-MVB12-associated (UMA) domain containing 1 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "RPA3-AS1|RPA3OS" "RPA3 antisense RNA 1|RPA3 opposite strand" 2013-07-23 2014-10-10 2014-10-10 2023-01-20 729852 ENSG00000219545 OTTHUMG00000152007 AK027125 NM_001302348 CCDS83158 C9J7I0 20448139 MGI:3840148 HGNC:48955 "ENST00000682710.1|NM_001302348.2" HGNC:51824 UMLILO upstream master lncRNA of the inflammatory chemokine locus non-coding RNA RNA, long non-coding Approved 4q13.3 04q13.3 Long non-coding RNAs with non-systematic symbols 1992 2018-12-11 2018-12-12 114515515 ENSG00000228277 OTTHUMG00000151319 30531872 HGNC:12559 UMOD uromodulin protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "Tamm-Horsfall glycoprotein|uromucoid" uromodulin (uromucoid, Tamm-Horsfall glycoprotein) 1992-07-27 2008-06-23 2023-01-20 7369 ENSG00000169344 OTTHUMG00000131488 uc059rpt.1 M17778 NM_001008389 "CCDS10583|CCDS61876" P07911 8382593 MGI:102674 RGD:3940 191845 120412 HGNC:12559 "ENST00000396138.9|NM_003361.4" HGNC:12559 -HGNC:12560 UMODL1 uromodulin like 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 olfactorin 2000-05-17 2015-11-23 2023-01-20 89766 ENSG00000177398 OTTHUMG00000086788 uc002zag.1 NM_001004416 "CCDS56215|CCDS56214|CCDS42935|CCDS42936" Q5DID0 16026467 MGI:1929785 RGD:1566039 613859 471294 HGNC:12560 "ENST00000408910.7|NM_001004416.3" +HGNC:12560 UMODL1 uromodulin like 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 olfactorin 2000-05-17 2015-11-23 2023-01-20 89766 ENSG00000177398 OTTHUMG00000086788 uc002zag.1 NM_001004416 "CCDS56214|CCDS42936|CCDS42935|CCDS56215" Q5DID0 16026467 MGI:1929785 RGD:1566039 613859 471294 HGNC:12560 "ENST00000408910.7|NM_001004416.3" HGNC:23821 UMODL1-AS1 UMODL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 FLJ33471 C21orf128 chromosome 21 open reading frame 128 Antisense RNAs 1987 2003-12-15 2014-10-01 2014-10-01 2023-03-15 150147 ENSG00000184385 OTTHUMG00000086790 NR_027243 Q8N2C9 UMODL1-AS1 HGNC:23821 HGNC:12563 UMPS uridine monophosphate synthetase protein-coding gene gene with protein product Approved 3q21.2 03q21.2 orotate phosphoribosyl transferase and orotidine-5'-decarboxylase MicroRNA protein coding host genes 1691 1986-01-01 2008-02-04 2023-01-20 7372 ENSG00000114491 OTTHUMG00000159431 uc003ehl.5 NM_000373 CCDS3029 P11172 2767686 MGI:1298388 RGD:1311908 613891 120414 "2.4.2.10|4.1.1.23" HGNC:12563 "ENST00000232607.7|NM_000373.4" HGNC:12563 HGNC:12567 UNC5A unc-5 netrin receptor A protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "KIAA1976|UNC5H1" "unc5 (C.elegans homolog) a|unc-5 homolog A (C. elegans)" "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 1998-12-09 2015-06-19 2023-01-20 90249 ENSG00000113763 OTTHUMG00000163225 uc003mey.4 AB075856 NM_133369 CCDS34299 Q6ZN44 "12655055|20372800" MGI:894682 RGD:621755 607869 HGNC:12567 "ENST00000329542.9|NM_133369.3" @@ -41510,15 +41513,15 @@ HGNC:55246 UNC5C-AS1 UNC5C antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:21203 UNC5CL unc-5 family C-terminal like protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "MGC34763|ZUD" ZU5 and death domain containing unc-5 homolog C (C. elegans)-like 2003-05-28 2015-06-19 2023-01-20 222643 ENSG00000124602 OTTHUMG00000014665 uc003opi.4 BC035284 NM_173561 CCDS4847 Q8IV45 14769797 MGI:1923839 RGD:1587368 617464 HGNC:21203 "ENST00000244565.8|NM_173561.3" HGNC:18634 UNC5D unc-5 netrin receptor D protein-coding gene gene with protein product Approved 8p12 08p12 "KIAA1777|Unc5h4" "Netrin receptor UNC5D|Protein unc-5 homolog 4|Protein unc-5 homolog D" unc-5 homolog D (C. elegans) "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 2002-05-13 2015-06-19 2023-01-20 137970 ENSG00000156687 OTTHUMG00000157145 uc003xjr.3 AB055056 NM_001322818 "CCDS83279|CCDS6093|CCDS94280" Q6UXZ4 18402767 MGI:2389364 RGD:1309245 616466 HGNC:18634 "ENST00000404895.7|NM_080872.4" HGNC:23150 UNC13A unc-13 homolog A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KIAA1032|Munc13-1" unc-13 homolog A (C. elegans) UNC13 homologs 836 2003-10-16 2016-06-24 2023-01-20 23025 ENSG00000130477 OTTHUMG00000163877 uc060vkq.1 AB028955 NM_001080421 "CCDS92557|CCDS46013" Q9UPW8 MGI:3051532 RGD:619722 609894 406692 HGNC:23150 "ENST00000519716.7|NM_001080421.3" HGNC:23150 -HGNC:12566 UNC13B unc-13 homolog B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "hmunc13|Unc13h2|Munc13-2" UNC13 "unc-13-like (C. elegans)|unc-13 homolog B (C. elegans)" UNC13 homologs 836 1998-10-30 2003-10-17 2016-06-24 2023-01-20 10497 ENSG00000198722 OTTHUMG00000019856 uc003zwq.4 AF020202 NM_006377 "CCDS94405|CCDS6579|CCDS83361|CCDS94404" O14795 9607201 MGI:1342278 RGD:619723 605836 HGNC:12566 "ENST00000635942.2|NM_001371189.2" -HGNC:23149 UNC13C unc-13 homolog C protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "Munc13-3|DKFZp547H074" unc-13 homolog C (C. elegans) UNC13 homologs 836 2003-10-16 2016-06-24 2023-01-20 440279 ENSG00000137766 OTTHUMG00000172542 uc059jkr.1 AK091491 NM_173166 "CCDS45264|CCDS92002" Q8NB66 MGI:2149021 RGD:628592 614568 HGNC:23149 "ENST00000260323.16|NM_001080534.3" +HGNC:12566 UNC13B unc-13 homolog B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "hmunc13|Unc13h2|Munc13-2" UNC13 "unc-13-like (C. elegans)|unc-13 homolog B (C. elegans)" UNC13 homologs 836 1998-10-30 2003-10-17 2016-06-24 2023-01-20 10497 ENSG00000198722 OTTHUMG00000019856 uc003zwq.4 AF020202 NM_006377 "CCDS94404|CCDS94405|CCDS83361|CCDS6579" O14795 9607201 MGI:1342278 RGD:619723 605836 HGNC:12566 "ENST00000635942.2|NM_001371189.2" +HGNC:23149 UNC13C unc-13 homolog C protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "Munc13-3|DKFZp547H074" unc-13 homolog C (C. elegans) UNC13 homologs 836 2003-10-16 2016-06-24 2023-01-20 440279 ENSG00000137766 OTTHUMG00000172542 uc059jkr.1 AK091491 NM_173166 "CCDS92002|CCDS45264" Q8NB66 MGI:2149021 RGD:628592 614568 HGNC:23149 "ENST00000260323.16|NM_001080534.3" HGNC:23147 UNC13D unc-13 homolog D protein-coding gene gene with protein product Approved 17q25.3 17q25.3 Munc13-4 unc-13 homolog D (C. elegans) UNC13 homologs 836 2003-10-16 2016-04-05 2023-01-20 201294 ENSG00000092929 OTTHUMG00000179895 uc002jpp.5 AK024474 NM_199242 CCDS11730 Q70J99 MGI:1917700 RGD:628593 "UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3|http://structure.bmc.lu.se/idbase/UNC13Dbase/|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=UNC13D|LRG_122|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_122.xml" 608897 120416 HGNC:23147 "ENST00000207549.9|NM_199242.3" HGNC:23147 HGNC:30594 UNC45A unc-45 myosin chaperone A protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SMAP-1|GC-UNC45" smooth muscle cell associated protein-1 unc-45 homolog A (C. elegans) Armadillo like helical domain containing 1492 2005-11-17 2015-06-19 2023-03-15 55898 ENSG00000140553 OTTHUMG00000141261 uc002bqg.4 NM_018671 "CCDS42082|CCDS10367" Q9H3U1 "25444911|25487020" MGI:2142246 RGD:1305357 611219 HGNC:30594 "ENST00000418476.2|NM_018671.5" -HGNC:14304 UNC45B unc-45 myosin chaperone B protein-coding gene gene with protein product Approved 17q12 17q12 UNC45 CMYA4 "cardiomyopathy associated 4|unc-45 homolog B (C. elegans)" Armadillo like helical domain containing 1492 2002-04-03 2005-11-17 2015-06-19 2023-01-20 146862 ENSG00000141161 OTTHUMG00000132931 uc002hja.3 AW755253 NM_173167 "CCDS11292|CCDS76993|CCDS45648" Q8IWX7 "24549050|25487020" MGI:2443377 RGD:1305666 611220 405637 HGNC:14304 "ENST00000394570.7|NM_001267052.2" HGNC:14304 -HGNC:16046 UNC50 unc-50 inner nuclear membrane RNA binding protein protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "URP|UNCL|GMH1" unc-50 homolog (C. elegans) 2004-01-21 2016-04-29 2023-01-20 25972 ENSG00000115446 OTTHUMG00000130562 uc002szc.5 NM_014044 "CCDS2035|CCDS82485" Q53HI1 10980252 MGI:1914637 RGD:621749 617826 HGNC:16046 "ENST00000357765.7|NM_014044.7" -HGNC:19966 UNC79 unc-79 homolog, NALCN channel complex subunit protein-coding gene gene with protein product Approved 14q32.12 14q32.12 KIAA1409 "KIAA1409|unc-79 homolog (C. elegans)" Armadillo like helical domain containing 1492 2003-11-21 2011-08-18 2017-05-23 2023-01-20 57578 ENSG00000133958 OTTHUMG00000029783 uc001ybs.2 AB037830 NM_020818 "CCDS91920|CCDS9911|CCDS91921" Q9P2D8 "20714347|21040849" MGI:2684729 RGD:1311117 616884 HGNC:19966 "ENST00000695012.1|NM_001395159.1" -HGNC:26582 UNC80 unc-80 homolog, NALCN channel complex subunit protein-coding gene gene with protein product Approved 2q34 02q34 "FLJ33496|KIAA1843|UNC-80" C2orf21 "chromosome 2 open reading frame 21|unc-80 homolog (C. elegans)" 2004-01-20 2009-08-17 2017-05-23 2023-01-20 285175 ENSG00000144406 OTTHUMG00000132963 uc021vvx.2 AK090815 NM_182587 "CCDS2387|CCDS46504|CCDS92937" Q8N2C7 "19092807|19535918|26708753" MGI:2652882 RGD:1309976 612636 463796 HGNC:26582 "ENST00000673920.1|NM_001371986.1" HGNC:26582 -HGNC:12570 UNC93A unc-93 homolog A protein-coding gene gene with protein product Approved 6q27 06q27 "dJ366N23.2|dJ366N23.1" "unc93 (C.elegans) homolog A|unc-93 homolog A (C. elegans)" 2000-06-15 2017-08-04 2023-01-20 54346 ENSG00000112494 OTTHUMG00000016021 uc003qvq.4 AJ508812 NM_018974 "CCDS47515|CCDS5300" Q86WB7 12381271 MGI:3712668 RGD:1583290 607995 HGNC:12570 "ENST00000230256.8|NM_018974.4" +HGNC:14304 UNC45B unc-45 myosin chaperone B protein-coding gene gene with protein product Approved 17q12 17q12 UNC45 CMYA4 "cardiomyopathy associated 4|unc-45 homolog B (C. elegans)" Armadillo like helical domain containing 1492 2002-04-03 2005-11-17 2015-06-19 2023-01-20 146862 ENSG00000141161 OTTHUMG00000132931 uc002hja.3 AW755253 NM_173167 "CCDS76993|CCDS11292|CCDS45648" Q8IWX7 "24549050|25487020" MGI:2443377 RGD:1305666 611220 405637 HGNC:14304 "ENST00000394570.7|NM_001267052.2" HGNC:14304 +HGNC:16046 UNC50 unc-50 inner nuclear membrane RNA binding protein protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "URP|UNCL|GMH1" unc-50 homolog (C. elegans) 2004-01-21 2016-04-29 2023-01-20 25972 ENSG00000115446 OTTHUMG00000130562 uc002szc.5 NM_014044 "CCDS82485|CCDS2035" Q53HI1 10980252 MGI:1914637 RGD:621749 617826 HGNC:16046 "ENST00000357765.7|NM_014044.7" +HGNC:19966 UNC79 unc-79 homolog, NALCN channel complex subunit protein-coding gene gene with protein product Approved 14q32.12 14q32.12 KIAA1409 "KIAA1409|unc-79 homolog (C. elegans)" Armadillo like helical domain containing 1492 2003-11-21 2011-08-18 2017-05-23 2023-01-20 57578 ENSG00000133958 OTTHUMG00000029783 uc001ybs.2 AB037830 NM_020818 "CCDS91921|CCDS91920|CCDS9911" Q9P2D8 "20714347|21040849" MGI:2684729 RGD:1311117 616884 HGNC:19966 "ENST00000695012.1|NM_001395159.1" +HGNC:26582 UNC80 unc-80 homolog, NALCN channel complex subunit protein-coding gene gene with protein product Approved 2q34 02q34 "FLJ33496|KIAA1843|UNC-80" C2orf21 "chromosome 2 open reading frame 21|unc-80 homolog (C. elegans)" 2004-01-20 2009-08-17 2017-05-23 2023-01-20 285175 ENSG00000144406 OTTHUMG00000132963 uc021vvx.2 AK090815 NM_182587 "CCDS46504|CCDS92937|CCDS2387" Q8N2C7 "19092807|19535918|26708753" MGI:2652882 RGD:1309976 612636 463796 HGNC:26582 "ENST00000673920.1|NM_001371986.1" HGNC:26582 +HGNC:12570 UNC93A unc-93 homolog A protein-coding gene gene with protein product Approved 6q27 06q27 "dJ366N23.2|dJ366N23.1" "unc93 (C.elegans) homolog A|unc-93 homolog A (C. elegans)" 2000-06-15 2017-08-04 2023-01-20 54346 ENSG00000112494 OTTHUMG00000016021 uc003qvq.4 AJ508812 NM_018974 "CCDS5300|CCDS47515" Q86WB7 12381271 MGI:3712668 RGD:1583290 607995 HGNC:12570 "ENST00000230256.8|NM_018974.4" HGNC:13481 UNC93B1 unc-93 homolog B1, TLR signaling regulator protein-coding gene gene with protein product Approved 11q13.2 11q13.2 UNC93 "unc93 (C. elegans) homolog B1|unc-93 homolog B1 (C. elegans)" 2002-01-22 2017-08-04 2023-01-20 81622 ENSG00000110057 OTTHUMG00000167472 uc031xth.1 AJ271326 NM_030930 CCDS73334 Q9H1C4 11867227 MGI:1859307 RGD:1311984 "UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)|http://structure.bmc.lu.se/idbase/UNC93B1base/|LRG_123|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_123.xml" 608204 120419 HGNC:13481 "ENST00000227471.7|NM_030930.4" HGNC:13482 UNC93B2 unc-93 homolog B2 (pseudogene) pseudogene pseudogene Approved 7p22.1 07p22.1 UNC93B2P "unc-93 homolog B2 pseudogene (C. elegans)|unc-93 homolog B2, pseudogene" 2008-02-28 2020-02-11 2020-02-11 641922 ENSG00000155070 OTTHUMG00000151911 NG_013106 11867227 HGNC:13482 HGNC:13483 UNC93B3 unc-93 homolog B3 (pseudogene) pseudogene pseudogene Approved 3p12.3 03p12.3 UNC93B3P "unc-93 homolog B3 pseudogene (C. elegans)|unc-93 homolog B3, pseudogene" 2008-02-28 2020-02-11 2020-02-11 285296 ENSG00000172971 OTTHUMG00000158960 XR_016294 11867227 PGOHUM00000250288 HGNC:13483 @@ -41535,12 +41538,12 @@ HGNC:18579 UNGP1 uracil-DNA glycosylase pseudogene 1 pseudogene pseudogene Appro HGNC:18580 UNGP2 uracil-DNA glycosylase pseudogene 2 pseudogene pseudogene Approved 14q12-q21 14q12-q21 2002-04-26 2008-05-14 57005 X92986 NG_001288 8694824 HGNC:18580 HGNC:20036 UNGP3 uracil-DNA glycosylase pseudogene 3 pseudogene pseudogene Approved 14q31.1 14q31.1 2003-01-13 2014-11-19 319122 ENSG00000270343 OTTHUMG00000184395 NG_002503 PGOHUM00000247873 HGNC:20036 HGNC:29369 UNK unk zinc finger protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA1753 "ZC3HDC5|ZC3H5" "zinc finger CCCH-type domain containing 5|zinc finger CCCH-type containing 5|unkempt homolog (Drosophila)|unk family zinc finger" Zinc fingers CCCH-type 73 2004-02-27 2007-02-06 2018-11-09 2023-01-20 85451 ENSG00000132478 OTTHUMG00000179892 uc021udd.3 AB051540 NM_001080419 CCDS45778 Q9C0B0 26641712 MGI:2442456 RGD:1309224 616375 HGNC:29369 "ENST00000589666.6|NM_001080419.3" -HGNC:14184 UNKL unk like zinc finger protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ZC3HDC5L|ZC3H5L|FLJ23360" C16orf28 "chromosome 16 open reading frame 28|unkempt homolog (Drosophila)-like|unkempt family like zinc finger" "Ring finger proteins|Zinc fingers CCCH-type" "58|73" 2000-12-21 2018-11-09 2023-03-15 64718 ENSG00000059145 OTTHUMG00000128553 uc059owu.1 BC011924 NM_001037125 "CCDS61787|CCDS92080|CCDS53980|CCDS32359" Q9H9P5 20148946 MGI:1921404 RGD:1565247 617463 HGNC:14184 "ENST00000389221.9|NM_001372107.1" HGNC:14184 +HGNC:14184 UNKL unk like zinc finger protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ZC3HDC5L|ZC3H5L|FLJ23360" C16orf28 "chromosome 16 open reading frame 28|unkempt homolog (Drosophila)-like|unkempt family like zinc finger" "Ring finger proteins|Zinc fingers CCCH-type" "58|73" 2000-12-21 2018-11-09 2023-03-15 64718 ENSG00000059145 OTTHUMG00000128553 uc059owu.1 BC011924 NM_001037125 "CCDS53980|CCDS61787|CCDS92080|CCDS32359" Q9H9P5 20148946 MGI:1921404 RGD:1565247 617463 HGNC:14184 "ENST00000389221.9|NM_001372107.1" HGNC:14184 HGNC:12575 UOX urate oxidase (pseudogene) pseudogene pseudogene Approved 1p31.1 01p31.1 UOXP urate oxidase 1991-06-06 2016-01-06 2020-08-14 391051 ENSG00000240520 OTTHUMG00000009861 AB074093 NR_003927 "1395718|1556746" MGI:98907 191540 HGNC:12575 HGNC:16297 UPB1 beta-ureidopropionase 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 BUP1 ureidopropionase, beta 2001-10-03 2016-05-16 2023-01-20 51733 ENSG00000100024 OTTHUMG00000150749 uc003aaf.4 AB013885 NM_016327 CCDS13827 Q9UBR1 10542323 MGI:2143535 RGD:620091 606673 120426 HGNC:16297 "ENST00000326010.10|NM_016327.3" HGNC:16297 -HGNC:9962 UPF1 UPF1 RNA helicase and ATPase protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "HUPF1|KIAA0221|NORF1|pNORF1|smg-2" "UP Frameshift 1|smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)" RENT1 "regulator of nonsense transcripts 1|UPF1 regulator of nonsense transcripts homolog (yeast)|UPF1, RNA helicase and ATPase" "UPF1 like RNA helicases|SURF complex|DECID complex" "1169|1963|1964" 1997-02-11 2006-02-07 2019-01-25 2023-01-20 5976 ENSG00000005007 OTTHUMG00000183025 uc002nkf.4 AF074016 NM_002911 "CCDS12386|CCDS74315" Q92900 "8855285|9064659" MGI:107995 RGD:1589127 601430 HGNC:9962 "ENST00000262803.10|NM_002911.4" +HGNC:9962 UPF1 UPF1 RNA helicase and ATPase protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "HUPF1|KIAA0221|NORF1|pNORF1|smg-2" "UP Frameshift 1|smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)" RENT1 "regulator of nonsense transcripts 1|UPF1 regulator of nonsense transcripts homolog (yeast)|UPF1, RNA helicase and ATPase" "UPF1 like RNA helicases|SURF complex|DECID complex" "1169|1963|1964" 1997-02-11 2006-02-07 2019-01-25 2023-01-20 5976 ENSG00000005007 OTTHUMG00000183025 uc002nkf.4 AF074016 NM_002911 "CCDS74315|CCDS12386" Q92900 "8855285|9064659" MGI:107995 RGD:1589127 601430 HGNC:9962 "ENST00000262803.10|NM_002911.4" HGNC:17854 UPF2 UPF2 regulator of nonsense mediated mRNA decay protein-coding gene gene with protein product Approved 10p14 10p14 "RENT2|DKFZP434D222|KIAA1408|smg-3" smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans) "UPF2 regulator of nonsense transcripts homolog (yeast)|UPF2, regulator of nonsense mediated mRNA decay" "DECID complex|MIF4G domain containing proteins" "1964|2128" 2003-02-07 2019-01-25 2023-01-20 26019 ENSG00000151461 OTTHUMG00000017678 uc001ilc.4 AB037829 NM_015542 CCDS7086 Q9HAU5 "11073994|11113196" MGI:2449307 RGD:1309178 605529 HGNC:17854 "ENST00000357604.10|NM_015542.4" -HGNC:20332 UPF3A UPF3A regulator of nonsense mediated mRNA decay protein-coding gene gene with protein product Approved 13q34 13q34 "RENT3A|UPF3|HUPF3A" "UPF3 regulator of nonsense transcripts homolog A (yeast)|UPF3A, regulator of nonsense mediated mRNA decay" 2003-02-07 2019-01-25 2023-01-20 65110 ENSG00000169062 OTTHUMG00000017403 uc001vup.4 AF318575 NM_001353644 "CCDS9544|CCDS9543" Q9H1J1 "11113196|11163187" MGI:1914281 RGD:1308778 605530 HGNC:20332 "ENST00000375299.8|NM_023011.4" +HGNC:20332 UPF3A UPF3A regulator of nonsense mediated mRNA decay protein-coding gene gene with protein product Approved 13q34 13q34 "RENT3A|UPF3|HUPF3A" "UPF3 regulator of nonsense transcripts homolog A (yeast)|UPF3A, regulator of nonsense mediated mRNA decay" 2003-02-07 2019-01-25 2023-01-20 65110 ENSG00000169062 OTTHUMG00000017403 uc001vup.4 AF318575 NM_001353644 "CCDS9543|CCDS9544" Q9H1J1 "11113196|11163187" MGI:1914281 RGD:1308778 605530 HGNC:20332 "ENST00000375299.8|NM_023011.4" HGNC:30568 UPF3AP1 UPF3A pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 1 2010-04-30 2013-09-13 2015-03-06 147226 ENSG00000226478 OTTHUMG00000059169 NG_001548 11997339 PGOHUM00000293968 HGNC:30568 HGNC:30567 UPF3AP2 UPF3A pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2 2010-04-30 2013-09-13 2015-03-06 147150 ENSG00000214832 OTTHUMG00000059514 NG_001546 11997339 PGOHUM00000293986 HGNC:30567 HGNC:38395 UPF3AP3 UPF3A pseudogene 3 pseudogene pseudogene Approved 9q31.1 09q31.1 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 3 2010-04-30 2013-09-13 2015-03-06 100422343 ENSG00000234709 OTTHUMG00000020360 NG_021629 PGOHUM00000304006 HGNC:38395 @@ -41549,26 +41552,25 @@ HGNC:12577 UPK1A uroplakin 1A protein-coding gene gene with protein product Appr HGNC:40603 UPK1A-AS1 UPK1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 UPK1A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2021-08-02 100862728 ENSG00000226510 OTTHUMG00000048113 uc002oax.2 BC007817 NR_046420 UPK1A-AS1 HGNC:40603 HGNC:12578 UPK1B uroplakin 1B protein-coding gene gene with protein product Approved 3q13.32 03q13.32 TSPAN20 UPK1 Tetraspanins 768 1992-07-31 2023-01-20 7348 ENSG00000114638 OTTHUMG00000159354 uc003ecc.4 AF082888 NM_006952 CCDS2985 O75841 "9935153|9846985" MGI:98912 RGD:1307806 602380 HGNC:12578 "ENST00000264234.8|NM_006952.4" HGNC:12579 UPK2 uroplakin 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "UP2|UPII|MGC138598" "uroplakin II|uroplakin-2" 1992-07-31 2023-01-20 7379 ENSG00000110375 OTTHUMG00000166346 uc001puh.4 Y13645 NM_006760 CCDS8404 O00526 "9515818|9846985" MGI:98913 RGD:1597393 611558 HGNC:12579 "ENST00000264031.3|NM_006760.4" -HGNC:12580 UPK3A uroplakin 3A protein-coding gene gene with protein product Approved 22q13.31 22q13.31 UPK3 uroplakin 3 1992-07-31 2003-07-30 2003-07-29 2023-01-20 7380 ENSG00000100373 OTTHUMG00000151339 uc003bfy.4 AB010637 NM_006953 "CCDS14064|CCDS54539" O75631 9818021 MGI:98914 RGD:1310633 611559 268073 HGNC:12580 "ENST00000216211.9|NM_006953.4" HGNC:12580 +HGNC:12580 UPK3A uroplakin 3A protein-coding gene gene with protein product Approved 22q13.31 22q13.31 UPK3 uroplakin 3 1992-07-31 2003-07-30 2003-07-29 2023-01-20 7380 ENSG00000100373 OTTHUMG00000151339 uc003bfy.4 AB010637 NM_006953 "CCDS54539|CCDS14064" O75631 9818021 MGI:98914 RGD:1310633 611559 268073 HGNC:12580 "ENST00000216211.9|NM_006953.4" HGNC:12580 HGNC:21444 UPK3B uroplakin 3B protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "MGC10902|p35|UPIIIb|FLJ32198" uroplakin IIIb 2003-07-29 2023-01-20 105375355 ENSG00000243566 OTTHUMG00000149929 uc064eqa.1 BC004304 NM_030570 CCDS87512 Q9BT76 12446744 MGI:2140882 RGD:1309615 611887 HGNC:21444 "ENST00000334348.8|NM_001347684.2" HGNC:37278 UPK3BL1 uroplakin 3B like 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 UPLP uroplakin-like protein UPK3BL uroplakin 3B like 2010-03-03 2017-04-13 2017-04-13 2023-01-20 100134938 ENSG00000267368 OTTHUMG00000165036 uc010lij.3 EU341824 NM_001114403 CCDS47675 B0FP48 MGI:1916915 RGD:1598237 HGNC:37278 "ENST00000340457.8|NM_001114403.3" HGNC:53444 UPK3BL2 uroplakin 3B like 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 2017-04-13 2023-01-20 107983993 ENSG00000284981 NM_001363506 CCDS87532 E5RIL1 MGI:1916915 HGNC:53444 "ENST00000644544.2|NM_001363506.2" HGNC:55757 UPK3BL3P uroplakin 3B like 3, pseudogene pseudogene pseudogene Approved 7p13 07p13 2021-07-21 2021-07-21 122149306 ENSG00000239556 PGOHUM00000302114 HGNC:42353 UPK3BP1 uroplakin 3B pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 2011-06-29 2011-07-04 107080637 ENSG00000242435 OTTHUMG00000155728 NG_046687 PGOHUM00000250954 HGNC:42353 HGNC:12576 UPP1 uridine phosphorylase 1 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "UPASE|UPP|UDRPASE" UP uridine phosphorylase 2001-06-22 2003-08-29 2003-08-28 2023-01-20 7378 ENSG00000183696 OTTHUMG00000129253 uc003tok.5 AK096167 NM_003364 CCDS5507 Q16831 "752472|11807789" MGI:1097668 RGD:1305566 191730 2.4.2.3 HGNC:12576 "ENST00000395564.9|NM_003364.4" -HGNC:23061 UPP2 uridine phosphorylase 2 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "UPASE2|UP2|UDRPASE2" 2003-09-01 2023-01-20 151531 ENSG00000007001 OTTHUMG00000131969 uc002tzp.4 AY225131 NM_173355 "CCDS46435|CCDS2207" O95045 12849978 MGI:1923904 RGD:1308188 617340 2.4.2.3 HGNC:23061 "ENST00000005756.5|NM_173355.4" -HGNC:41467 UPP2-IT1 UPP2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q24.1 02q24.1 UPP2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874283 ENSG00000237327 OTTHUMG00000153915 uc061ouf.1 UPP2-IT1 -HGNC:28334 UPRT uracil phosphoribosyltransferase homolog protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "DKFZp781E1243|MGC23937|FUR1|RP11-311P8.3" uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 2006-12-07 2015-11-18 2023-01-20 139596 ENSG00000094841 OTTHUMG00000021864 uc004ecb.3 BC015116 NM_145052 "CCDS87767|CCDS78494|CCDS14429" Q96BW1 26271729 MGI:2685620 RGD:1564806 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UPRT 300656 HGNC:28334 "ENST00000373383.9|NM_145052.4" -HGNC:15891 UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "FLJ10850|CBP3|BFZB" "Basic FGF-repressed Zic-binding protein|cytochrome B protein synthesis 3 homolog (S. cerevisiae)" "C20orf44|UQCC" "chromosome 20 open reading frame 44|ubiquinol-cytochrome c reductase complex chaperone" Mitochondrial respiratory chain complex assembly factors 645 2001-06-21 2013-09-20 2013-09-20 2023-01-20 55245 ENSG00000101019 OTTHUMG00000032335 AK001712 NM_018244 "CCDS13253|CCDS13252|CCDS54458" Q9NVA1 24385928 MGI:1929472 RGD:1585681 611797 HGNC:15891 "ENST00000374385.10|NM_018244.5" +HGNC:23061 UPP2 uridine phosphorylase 2 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "UPASE2|UP2|UDRPASE2" 2003-09-01 2023-01-20 151531 ENSG00000007001 OTTHUMG00000131969 uc002tzp.4 AY225131 NM_173355 "CCDS2207|CCDS46435" O95045 12849978 MGI:1923904 RGD:1308188 617340 2.4.2.3 HGNC:23061 "ENST00000005756.5|NM_173355.4" +HGNC:28334 UPRT uracil phosphoribosyltransferase homolog protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "DKFZp781E1243|MGC23937|FUR1|RP11-311P8.3" uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 2006-12-07 2015-11-18 2023-01-20 139596 ENSG00000094841 OTTHUMG00000021864 uc004ecb.3 BC015116 NM_145052 "CCDS78494|CCDS14429|CCDS87767" Q96BW1 26271729 MGI:2685620 RGD:1564806 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UPRT 300656 HGNC:28334 "ENST00000373383.9|NM_145052.4" +HGNC:15891 UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "FLJ10850|CBP3|BFZB" "Basic FGF-repressed Zic-binding protein|cytochrome B protein synthesis 3 homolog (S. cerevisiae)" "C20orf44|UQCC" "chromosome 20 open reading frame 44|ubiquinol-cytochrome c reductase complex chaperone" Mitochondrial respiratory chain complex assembly factors 645 2001-06-21 2013-09-20 2013-09-20 2023-01-20 55245 ENSG00000101019 OTTHUMG00000032335 AK001712 NM_018244 "CCDS13252|CCDS13253|CCDS54458" Q9NVA1 24385928 MGI:1929472 RGD:1585681 611797 HGNC:15891 "ENST00000374385.10|NM_018244.5" HGNC:21237 UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "MGC14833|bA6B20.2|M19|Cbp6" cytochrome B protein synthesis 6 homolog (S. cerevisiae) "C6orf125|MNF1" "chromosome 6 open reading frame 125|mitochondrial nucleoid factor 1" Mitochondrial respiratory chain complex assembly factors 645 2003-05-29 2013-09-20 2013-09-20 2023-01-20 84300 ENSG00000137288 OTTHUMG00000014534 NM_032340 CCDS4784 Q9BRT2 19643811 MGI:1914517 RGD:1306917 614461 394920 HGNC:21237 "ENST00000607484.6|NM_032340.4" HGNC:21237 HGNC:34399 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 UNQ655 C11orf83 chromosome 11 open reading frame 83 Mitochondrial respiratory chain complex assembly factors 645 2008-07-18 2014-07-24 2014-07-24 2023-01-20 790955 ENSG00000204922 OTTHUMG00000167546 "AY358935|BC090057" NM_001085372 CCDS41658 Q6UW78 "12975309|25008109|25605331" MGI:2147553 RGD:1597344 616097 414565 HGNC:34399 "ENST00000377953.4|NM_001085372.3" HGNC:34399 HGNC:27558 UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "gs103|CCSMST1|URLC5" cattle cerebrum and skeletal muscle-specific protein 1 family member C16orf91 chromosome 16 open reading frame 91 2009-02-23 2022-09-22 2022-09-22 2023-03-15 283951 ENSG00000174109 OTTHUMG00000176551 uc002clr.4 BC023590 NM_001010878 CCDS61789 Q4G0I0 35977508 MGI:2670966 RGD:1565784 HGNC:27558 "ENST00000442039.3|NM_001272051.2" HGNC:37257 UQCC5 ubiquinol-cytochrome c reductase complex assembly factor 5 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "C3orf78|SMIM4" "chromosome 3 open reading frame 78|small integral membrane protein 4" 2010-06-04 2022-10-10 2022-10-10 2023-01-20 440957 ENSG00000168273 OTTHUMG00000158726 uc003dep.3 AK095910 NM_001124767 CCDS46844 Q8WVI0 "34969438|35977508" MGI:1913737 RGD:1307583 HGNC:37257 "ENST00000477703.6|NM_001124767.2" HGNC:34450 UQCC6 ubiquinol-cytochrome c reductase complex assembly factor 6 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ13975|DKFZp547P055|BR" brawnin C12orf73 chromosome 12 open reading frame 73 2008-10-01 2022-10-10 2022-10-10 2023-01-20 728568 ENSG00000204954 OTTHUMG00000170119 uc058smq.1 AK024037 NM_001135570 CCDS44964 Q69YU5 "32161263|34969438" MGI:3698433 RGD:1593359 618812 HGNC:34450 "ENST00000378090.9|NM_001135570.3" -HGNC:30863 UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "HSPC051|UCRC|QCR9|UCCR7.2" "ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa|complex III subunit 9" Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 2010-01-26 2023-01-20 29796 ENSG00000184076 OTTHUMG00000151283 uc003agq.1 AB028598 NM_013387 "CCDS46681|CCDS46680" Q9UDW1 11042152 MGI:1913402 RGD:1595126 610843 471296 HGNC:30863 "ENST00000330029.6|NM_013387.4" +HGNC:30863 UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "HSPC051|UCRC|QCR9|UCCR7.2" "ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa|complex III subunit 9" Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 2010-01-26 2023-01-20 29796 ENSG00000184076 OTTHUMG00000151283 uc003agq.1 AB028598 NM_013387 "CCDS46680|CCDS46681" Q9UDW1 11042152 MGI:1913402 RGD:1595126 610843 471296 HGNC:30863 "ENST00000330029.6|NM_013387.4" HGNC:54960 UQCR10P1 UQCR10 pseudogene 1 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 644310 ENSG00000237528 NG_027713 HGNC:30862 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI protein-coding gene gene with protein product Approved 19p13.3 19p13.3 QCR10 complex III subunit 10 UQCR ubiquinol-cytochrome c reductase, 6.4kDa subunit Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 2005-01-10 2010-01-26 2010-01-26 2023-01-20 10975 ENSG00000127540 OTTHUMG00000180084 uc002ltm.4 D55636 NM_006830 CCDS12073 O14957 9161705 MGI:1913844 RGD:1590985 609711 471298 HGNC:30862 "ENST00000591899.8|NM_006830.4" -HGNC:12582 UQCRB ubiquinol-cytochrome c reductase binding protein protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "QP-C|QCR7|UQCR6" "ubiquinol-cytochrome c reductase, complex III subunit VI|cytochrome b-c1 complex subunit 7" UQBP Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 1991-08-20 2023-01-20 7381 ENSG00000156467 OTTHUMG00000164711 uc003yhq.5 X13585 NM_006294 "CCDS6269|CCDS59107" P14927 "2167087|2543413|3056408" MGI:1914780 RGD:1311971 191330 166726 HGNC:12582 "ENST00000287022.10|NM_006294.5" HGNC:12582 +HGNC:12582 UQCRB ubiquinol-cytochrome c reductase binding protein protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "QP-C|QCR7|UQCR6" "ubiquinol-cytochrome c reductase, complex III subunit VI|cytochrome b-c1 complex subunit 7" UQBP Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 1991-08-20 2023-01-20 7381 ENSG00000156467 OTTHUMG00000164711 uc003yhq.5 X13585 NM_006294 "CCDS59107|CCDS6269" P14927 "2167087|2543413|3056408" MGI:1914780 RGD:1311971 191330 166726 HGNC:12582 "ENST00000287022.10|NM_006294.5" HGNC:12582 HGNC:55521 UQCRB-AS1 UQCRB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 Antisense RNAs 1987 2021-03-18 2021-03-18 101927039 ENSG00000254224 NR_183272 HGNC:12583 UQCRBP1 ubiquinol-cytochrome c reductase binding protein pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 1993-07-16 2020-04-20 442454 ENSG00000237748 OTTHUMG00000021675 NR_002308 2543413 PGOHUM00000241342 HGNC:12583 HGNC:12584 UQCRBP2 ubiquinol-cytochrome c reductase binding protein pseudogene 2 pseudogene pseudogene Approved 1q23.3 01q23.3 1993-07-16 2020-04-20 100130719 ENSG00000227941 OTTHUMG00000034418 NG_027838 2543413 PGOHUM00000256868 HGNC:12584 @@ -41593,42 +41595,42 @@ HGNC:43695 URAHP urate (hydroxyiso-) hydrolase, pseudogene pseudogene pseudogene HGNC:17344 URB1 URB1 ribosome biogenesis homolog protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "KIAA0539|NPA1" C21orf108 "chromosome 21 open reading frame 108|URB1 ribosome biogenesis 1 homolog (S. cerevisiae)" "Armadillo like helical domain containing|Ribosomal biogenesis factors|Small nucleolar RNA protein coding host genes" "1492|1729|1835" 2001-12-11 2006-11-28 2018-08-08 2023-01-20 9875 ENSG00000142207 OTTHUMG00000064919 uc002ypn.3 AB011111 NM_014825 CCDS46645 O60287 29246861 MGI:2146468 RGD:1304621 608865 HGNC:17344 "ENST00000382751.4|NM_014825.3" HGNC:23128 URB1-AS1 URB1 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 "PRED84|MGC14136" C21orf119 chromosome 21 open reading frame 119 Antisense RNAs 1987 2003-10-01 2014-10-01 2014-10-01 2023-03-15 84996 ENSG00000256073 OTTHUMG00000064921 BC007928 NR_026845 Q96HZ7 URB1-AS1 HGNC:23128 HGNC:28967 URB2 URB2 ribosome biogenesis homolog protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "NPA2|NET10" nucleolar preribosomal-associated protein 2 KIAA0133 "KIAA0133|URB2 ribosome biogenesis 2 homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2004-11-08 2008-10-01 2018-08-08 2023-01-20 9816 ENSG00000135763 OTTHUMG00000039464 uc001hts.1 D50923 NM_014777 CCDS31052 Q14146 8590280 MGI:2681124 RGD:1307980 619372 HGNC:28967 "ENST00000258243.7|NM_014777.4" -HGNC:30890 URGCP upregulator of cell proliferation protein-coding gene gene with protein product Approved 7p13 07p13 "URG4|KIAA1507|FLJ20654|DKFZp666G166|DKFZp686O0457" up-regulated gene 4 2009-12-15 2023-01-20 55665 ENSG00000106608 OTTHUMG00000155245 uc003tiy.4 NM_001077664 "CCDS47577|CCDS47578|CCDS43572" Q8TCY9 "10819331|12082552" MGI:1919296 RGD:1564681 610337 HGNC:30890 "ENST00000453200.6|NM_001077663.3" +HGNC:30890 URGCP upregulator of cell proliferation protein-coding gene gene with protein product Approved 7p13 07p13 "URG4|KIAA1507|FLJ20654|DKFZp666G166|DKFZp686O0457" up-regulated gene 4 2009-12-15 2023-01-20 55665 ENSG00000106608 OTTHUMG00000155245 uc003tiy.4 NM_001077664 "CCDS43572|CCDS47577|CCDS47578" Q8TCY9 "10819331|12082552" MGI:1919296 RGD:1564681 610337 HGNC:30890 "ENST00000453200.6|NM_001077663.3" HGNC:49188 URGCP-MRPS24 URGCP-MRPS24 readthrough other readthrough Approved 7p13 07p13 2013-09-25 2023-03-15 100534592 ENSG00000270617 OTTHUMG00000185136 NM_001204871 HGNC:49188 -HGNC:13236 URI1 URI1 prefoldin like chaperone protein-coding gene gene with protein product Approved 19q12 19q12 "RMP|NNX3|FLJ10575|URI|PPP1R19" "unconventional prefoldin RPB5 interactor|RPB5-mediating protein|protein phosphatase 1, regulatory subunit 19" C19orf2 chromosome 19 open reading frame 2 "Protein phosphatase 1 regulatory subunits|Prefoldin subunits" "694|956" 2002-09-13 2011-11-21 2019-01-21 2023-03-15 8725 ENSG00000105176 OTTHUMG00000177923 uc002nsr.4 AF091095 NM_134447 "CCDS58658|CCDS12420" O94763 "9878255|9819440" MGI:1342294 RGD:1310358 603494 HGNC:13236 "ENST00000392271.6|NM_003796.3" -HGNC:28378 URM1 ubiquitin related modifier 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 MGC2668 C9orf74 "chromosome 9 open reading frame 74|ubiquitin related modifier 1 homolog (S. cerevisiae)" 2004-01-06 2006-11-28 2010-06-24 2023-01-20 81605 ENSG00000167118 OTTHUMG00000020742 uc004buv.3 AK097029 NM_030914 "CCDS6900|CCDS59148|CCDS48035" Q9BTM9 "16046629|16864801|25747390" MGI:1915455 RGD:1306599 612693 HGNC:28378 "ENST00000372853.9|NM_030914.4" +HGNC:13236 URI1 URI1 prefoldin like chaperone protein-coding gene gene with protein product Approved 19q12 19q12 "RMP|NNX3|FLJ10575|URI|PPP1R19" "unconventional prefoldin RPB5 interactor|RPB5-mediating protein|protein phosphatase 1, regulatory subunit 19" C19orf2 chromosome 19 open reading frame 2 "Protein phosphatase 1 regulatory subunits|Prefoldin subunits" "694|956" 2002-09-13 2011-11-21 2019-01-21 2023-03-15 8725 ENSG00000105176 OTTHUMG00000177923 uc002nsr.4 AF091095 NM_134447 "CCDS12420|CCDS58658" O94763 "9878255|9819440" MGI:1342294 RGD:1310358 603494 HGNC:13236 "ENST00000392271.6|NM_003796.3" +HGNC:28378 URM1 ubiquitin related modifier 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 MGC2668 C9orf74 "chromosome 9 open reading frame 74|ubiquitin related modifier 1 homolog (S. cerevisiae)" 2004-01-06 2006-11-28 2010-06-24 2023-01-20 81605 ENSG00000167118 OTTHUMG00000020742 uc004buv.3 AK097029 NM_030914 "CCDS48035|CCDS59148|CCDS6900" Q9BTM9 "16046629|16864801|25747390" MGI:1915455 RGD:1306599 612693 HGNC:28378 "ENST00000372853.9|NM_030914.4" HGNC:26444 UROC1 urocanate hydratase 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "FLJ31300|HMFN0320" urocanase 1 urocanase domain containing 1 2005-02-07 2012-08-21 2023-01-20 131669 ENSG00000159650 OTTHUMG00000162753 uc003eiz.3 AK055862 NM_144639 "CCDS54636|CCDS3038" Q96N76 19304569 MGI:2385332 RGD:1587777 613012 212917 4.2.1.49 HGNC:26444 "ENST00000290868.7|NM_144639.3" HGNC:26444 HGNC:12591 UROD uroporphyrinogen decarboxylase protein-coding gene gene with protein product Approved 1p34.1 01p34.1 2001-06-22 2023-01-20 7389 ENSG00000126088 OTTHUMG00000008949 uc001cna.3 BC001778 NM_000374 CCDS518 P06132 "3015909|3460962" MGI:98916 RGD:3946 LRG_1079|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1079.xml 613521 120429 4.1.1.37 HGNC:12591 "ENST00000246337.9|NM_000374.5" HGNC:12591 -HGNC:12592 UROS uroporphyrinogen III synthase protein-coding gene gene with protein product Approved 10q26.2 10q26.2 congenital erythropoietic porphyria 1991-09-13 2008-07-31 2023-01-20 7390 ENSG00000188690 OTTHUMG00000019236 uc001lix.5 J03824 NM_000375 "CCDS91372|CCDS91371|CCDS81522|CCDS7648" P10746 2037278 MGI:98917 RGD:1310396 LRG_1081|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1081.xml 606938 120431 4.2.1.75 HGNC:12592 "ENST00000368797.10|NM_000375.3" HGNC:12592 -HGNC:25792 USB1 U6 snRNA biogenesis phosphodiesterase 1 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ13154|HVSL1|Mpn1" "HVSL motif containing 1|poikiloderma with neutropenia|U six biogenesis 1|mutated in poikiloderma with neutropenia protein 1" C16orf57 "chromosome 16 open reading frame 57|U6 snRNA biogenesis 1" 2006-02-17 2012-08-21 2016-03-31 2023-01-20 79650 ENSG00000103005 OTTHUMG00000133456 uc002emz.4 AK023216 NM_024598 "CCDS81990|CCDS55998|CCDS55997|CCDS10791|CCDS81991" Q9BQ65 "20004881|20503306|22899009|23022480" MGI:2142454 RGD:1305215 LRG_352|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_352.xml 613276 225243 3.1.4.- HGNC:25792 "ENST00000219281.8|NM_024598.4" HGNC:25792 +HGNC:12592 UROS uroporphyrinogen III synthase protein-coding gene gene with protein product Approved 10q26.2 10q26.2 congenital erythropoietic porphyria 1991-09-13 2008-07-31 2023-01-20 7390 ENSG00000188690 OTTHUMG00000019236 uc001lix.5 J03824 NM_000375 "CCDS81522|CCDS91372|CCDS91371|CCDS7648" P10746 2037278 MGI:98917 RGD:1310396 LRG_1081|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1081.xml 606938 120431 4.2.1.75 HGNC:12592 "ENST00000368797.10|NM_000375.3" HGNC:12592 +HGNC:25792 USB1 U6 snRNA biogenesis phosphodiesterase 1 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ13154|HVSL1|Mpn1" "HVSL motif containing 1|poikiloderma with neutropenia|U six biogenesis 1|mutated in poikiloderma with neutropenia protein 1" C16orf57 "chromosome 16 open reading frame 57|U6 snRNA biogenesis 1" 2006-02-17 2012-08-21 2016-03-31 2023-01-20 79650 ENSG00000103005 OTTHUMG00000133456 uc002emz.4 AK023216 NM_024598 "CCDS55998|CCDS81991|CCDS81990|CCDS10791|CCDS55997" Q9BQ65 "20004881|20503306|22899009|23022480" MGI:2142454 RGD:1305215 LRG_352|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_352.xml 613276 225243 3.1.4.- HGNC:25792 "ENST00000219281.8|NM_024598.4" HGNC:25792 HGNC:30882 USE1 unconventional SNARE in the ER 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "p31|SLT1|MDS032|D12" "Q-SNARE|SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)" unconventional SNARE in the ER 1 homolog (S. cerevisiae) SNAREs 1124 2007-08-20 2016-03-14 2023-01-20 55850 ENSG00000053501 OTTHUMG00000182723 uc002nfo.3 AF220052 NM_018467 CCDS46011 Q9NZ43 "16354670|15029241" MGI:1914273 RGD:1306660 610675 HGNC:30882 "ENST00000263897.10|NM_018467.4" HGNC:12593 USF1 upstream transcription factor 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "UEF|MLTFI|bHLHb11" Basic helix-loop-helix proteins 420 1992-12-10 2023-03-15 7391 ENSG00000158773 OTTHUMG00000031472 uc001fxi.5 BC035505 NM_007122 CCDS1214 P22415 8486371 MGI:99542 RGD:620974 191523 HGNC:12593 "ENST00000368021.7|NM_007122.5" HGNC:23773 USF1P1 upstream transcription factor 1 pseudogene 1 pseudogene pseudogene Approved 21q22.11 21q22.11 USF1P upstream transcription factor 1 pseudogene 2008-01-31 2010-02-26 2010-02-26 2014-11-19 100151645 ENSG00000226501 OTTHUMG00000065124 NG_007657 PGOHUM00000239166 HGNC:23773 -HGNC:12594 USF2 upstream transcription factor 2, c-fos interacting protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FIP|bHLHb12" Basic helix-loop-helix proteins 420 1994-10-25 2023-01-20 7392 ENSG00000105698 OTTHUMG00000183182 uc002nyq.2 AY007087 NM_003367 "CCDS12453|CCDS12452|CCDS82329" Q15853 8954795 MGI:99961 RGD:620975 600390 HGNC:12594 "ENST00000222305.8|NM_003367.4" +HGNC:12594 USF2 upstream transcription factor 2, c-fos interacting protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FIP|bHLHb12" Basic helix-loop-helix proteins 420 1994-10-25 2023-01-20 7392 ENSG00000105698 OTTHUMG00000183182 uc002nyq.2 AY007087 NM_003367 "CCDS82329|CCDS12453|CCDS12452" Q15853 8954795 MGI:99961 RGD:620975 600390 HGNC:12594 "ENST00000222305.8|NM_003367.4" HGNC:30494 USF3 upstream transcription factor family member 3 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 KIAA2018 KIAA2018 2005-03-02 2015-10-08 2015-10-08 2023-01-20 205717 ENSG00000176542 OTTHUMG00000159322 AB095938 NM_001009899 CCDS43133 Q68DE3 MGI:2685454 RGD:1560175 617568 HGNC:30494 "ENST00000316407.9|NM_001009899.4" HGNC:30494 -HGNC:12597 USH1C USH1 protein network component harmonin protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "PDZ73|harmonin|NY-CO-37|NY-CO-38|PDZ-73|AIE-75|PDZD7C" harmonin DFNB18 "deafness, autosomal recessive 18|Usher syndrome 1C (autosomal recessive, severe)|Usher syndrome 1C" PDZ domain containing 1220 1992-06-08 2016-02-16 2023-01-20 10083 ENSG00000006611 OTTHUMG00000166323 uc001mne.4 AB006955 NM_005709 "CCDS73265|CCDS31438|CCDS7825" Q9Y6N9 "10973247|12107438" MGI:1919338 RGD:1303329 "Mutations of the Harmonin Gene|http://www.retina-international.org/files/sci-news/ush1cmut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH1C" 605242 120433 HGNC:12597 "ENST00000005226.12|NM_153676.4" HGNC:12597 +HGNC:12597 USH1C USH1 protein network component harmonin protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "PDZ73|harmonin|NY-CO-37|NY-CO-38|PDZ-73|AIE-75|PDZD7C" harmonin DFNB18 "deafness, autosomal recessive 18|Usher syndrome 1C (autosomal recessive, severe)|Usher syndrome 1C" PDZ domain containing 1220 1992-06-08 2016-02-16 2023-01-20 10083 ENSG00000006611 OTTHUMG00000166323 uc001mne.4 AB006955 NM_005709 "CCDS73265|CCDS7825|CCDS31438" Q9Y6N9 "10973247|12107438" MGI:1919338 RGD:1303329 "Mutations of the Harmonin Gene|http://www.retina-international.org/files/sci-news/ush1cmut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH1C" 605242 120433 HGNC:12597 "ENST00000005226.12|NM_153676.4" HGNC:12597 HGNC:16356 USH1G USH1 protein network component sans protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "Sans|FLJ33924|ANKS4A" Usher syndrome 1G (autosomal recessive) "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2001-12-07 2016-02-17 2023-01-20 124590 ENSG00000182040 OTTHUMG00000178864 uc032fra.2 AK091243 NM_173477 CCDS32725 Q495M9 12588794 MGI:2450757 RGD:1304551 "CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH1G|LRG_1416|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1416.xml" 607696 120442 HGNC:16356 "ENST00000614341.5|NM_173477.5" HGNC:16356 -HGNC:12601 USH2A usherin protein-coding gene gene with protein product Approved 1q41 01q41 RP39 USH2 Usher syndrome 2A (autosomal recessive, mild) "Fibronectin type III domain containing|USH2 complex " "555|1244" 1990-03-06 2016-05-25 2023-01-20 7399 ENSG00000042781 OTTHUMG00000037079 uc001hku.1 AF055580 NM_007123 "CCDS1516|CCDS31025" O75445 "9624053|10729113" MGI:1341292 RGD:628777 "Mutations of the USH2a Gene|http://www.retina-international.org/files/sci-news/ush2amut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH2A" 608400 120447 HGNC:12601 "ENST00000307340.8|NM_206933.4" HGNC:12601 +HGNC:12601 USH2A usherin protein-coding gene gene with protein product Approved 1q41 01q41 RP39 USH2 Usher syndrome 2A (autosomal recessive, mild) "Fibronectin type III domain containing|USH2 complex " "555|1244" 1990-03-06 2016-05-25 2023-01-20 7399 ENSG00000042781 OTTHUMG00000037079 uc001hku.1 AF055580 NM_007123 "CCDS31025|CCDS1516" O75445 "9624053|10729113" MGI:1341292 RGD:628777 "Mutations of the USH2a Gene|http://www.retina-international.org/files/sci-news/ush2amut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH2A" 608400 120447 HGNC:12601 "ENST00000307340.8|NM_206933.4" HGNC:12601 HGNC:40606 USH2A-AS1 USH2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2020-04-16 2020-04-16 105372918 ENSG00000236292 OTTHUMG00000037078 XR_922595 HGNC:40605 USH2A-AS2 USH2A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2020-04-16 2020-04-16 102723833 ENSG00000233620 OTTHUMG00000037062 NR_125992 HGNC:24058 USHBP1 USH1 protein network component harmonin binding protein 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MCC2|AIEBP|FLJ38709" Usher syndrome 1C binding protein 1 2004-03-17 2016-03-14 2023-01-20 83878 ENSG00000130307 OTTHUMG00000182730 uc002nfs.2 AK096028 NM_031941 "CCDS12353|CCDS77256" Q8N6Y0 11311560 MGI:1922920 RGD:1310859 611810 HGNC:24058 "ENST00000252597.8|NM_031941.4" -HGNC:30904 USO1 USO1 vesicle transport factor protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "TAP|VDP|p115" "vesicle docking protein|transcytosis associated protein" "USO1 homolog, vesicle docking protein (yeast)|USO1 vesicle docking protein homolog (yeast)" Armadillo like helical domain containing 1492 2007-08-20 2012-12-10 2023-01-20 8615 ENSG00000138768 OTTHUMG00000160952 uc032tmk.2 AL832010 NM_003715 "CCDS77929|CCDS75144" O60763 "9478999|9150144|12077354|15979508|14736916" MGI:1929095 RGD:621604 603344 HGNC:30904 "ENST00000514213.7|NM_003715.4" +HGNC:30904 USO1 USO1 vesicle transport factor protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "TAP|VDP|p115" "vesicle docking protein|transcytosis associated protein" "USO1 homolog, vesicle docking protein (yeast)|USO1 vesicle docking protein homolog (yeast)" Armadillo like helical domain containing 1492 2007-08-20 2012-12-10 2023-01-20 8615 ENSG00000138768 OTTHUMG00000160952 uc032tmk.2 AL832010 NM_003715 "CCDS75144|CCDS77929" O60763 "9478999|9150144|12077354|15979508|14736916" MGI:1929095 RGD:621604 603344 HGNC:30904 "ENST00000514213.7|NM_003715.4" HGNC:12607 USP1 ubiquitin specific peptidase 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 Ubiquitinyl hydrolase 1, Ubiquitin carboxyl-terminal hydrolase 1, ubiquitin thiolesterase 1 ubiquitin specific protease 1 Ubiquitin specific peptidases 366 1998-06-08 2005-08-08 2023-01-20 7398 ENSG00000162607 OTTHUMG00000008972 uc001daj.3 NM_001017415 CCDS621 O94782 12838346 MGI:2385198 RGD:1306461 603478 C19.019 objectId:2428 3.4.19.12 HGNC:12607 "ENST00000339950.5|NM_003368.5" HGNC:12607 HGNC:12618 USP2 ubiquitin specific peptidase 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 UBP41 ubiquitin specific protease 2 Ubiquitin specific peptidases 366 1999-07-09 2005-08-08 2023-01-20 9099 ENSG00000036672 OTTHUMG00000166200 uc001pwm.5 AF079564 NM_171997 "CCDS8423|CCDS58189|CCDS8422" O75604 12838346 MGI:1858178 RGD:621073 604725 C19.013 objectId:2430 HGNC:12618 "ENST00000260187.7|NM_004205.5" HGNC:12618 HGNC:48673 USP2-AS1 USP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 "THY1-AS1|gLINC" glycoLINC USP2 antisense RNA 1 (head to head) Antisense RNAs 1987 2013-06-06 2022-04-29 2022-04-29 100499227 ENSG00000245248 OTTHUMG00000166173 NR_034160 "34707111|35081364" USP2-AS1 HGNC:48673 -HGNC:12626 USP3 ubiquitin specific peptidase 3 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 ubiquitin specific protease 3 Ubiquitin specific peptidases 366 1999-07-09 2005-08-08 2023-01-20 9960 ENSG00000140455 OTTHUMG00000172309 uc002amf.5 AF073344 NM_001256702 "CCDS32265|CCDS58370" Q9Y6I4 12838346 MGI:2152450 RGD:1308852 604728 C19.026 HGNC:12626 "ENST00000380324.8|NM_006537.4" +HGNC:12626 USP3 ubiquitin specific peptidase 3 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 ubiquitin specific protease 3 Ubiquitin specific peptidases 366 1999-07-09 2005-08-08 2023-01-20 9960 ENSG00000140455 OTTHUMG00000172309 uc002amf.5 AF073344 NM_001256702 "CCDS58370|CCDS32265" Q9Y6I4 12838346 MGI:2152450 RGD:1308852 604728 C19.026 HGNC:12626 "ENST00000380324.8|NM_006537.4" HGNC:44140 USP3-AS1 USP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q22.31 15q22.31 Antisense RNAs 1987 2013-05-24 2013-05-24 100130855 ENSG00000259248 OTTHUMG00000172432 AK093077 NR_034080 USP3-AS1 HGNC:44140 -HGNC:12627 USP4 ubiquitin specific peptidase 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Unph UNP ubiquitin specific peptidase 4 (proto-oncogene) Ubiquitin specific peptidases 366 1998-05-29 2016-04-06 2023-01-20 7375 ENSG00000114316 OTTHUMG00000156825 uc003cwq.3 U20657 NM_199443 "CCDS2794|CCDS2793|CCDS58832" Q13107 "12838346|9464533" MGI:98905 RGD:1587387 603486 C19.010 HGNC:12627 "ENST00000265560.9|NM_003363.4" +HGNC:12627 USP4 ubiquitin specific peptidase 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Unph UNP ubiquitin specific peptidase 4 (proto-oncogene) Ubiquitin specific peptidases 366 1998-05-29 2016-04-06 2023-01-20 7375 ENSG00000114316 OTTHUMG00000156825 uc003cwq.3 U20657 NM_199443 "CCDS2793|CCDS58832|CCDS2794" Q13107 "12838346|9464533" MGI:98905 RGD:1587387 603486 C19.010 HGNC:12627 "ENST00000265560.9|NM_003363.4" HGNC:12628 USP5 ubiquitin specific peptidase 5 protein-coding gene gene with protein product Approved 12p13 12p13 IsoT isopeptidase T ubiquitin specific peptidase 5 (isopeptidase T) Ubiquitin specific peptidases 366 1999-02-01 2016-04-06 2023-01-20 8078 ENSG00000111667 OTTHUMG00000169233 uc001qrh.5 U35116 NM_001098536 P45974 "12838346|8723724" MGI:1347343 RGD:1308438 601447 C19.001 objectId:2431 HGNC:12628 "ENST00000229268.13|NM_001098536.2" HGNC:12629 USP6 ubiquitin specific peptidase 6 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "Tre-2|TRE17|Tre2" "ubiquitin carboxyl-terminal hydrolase 6|TBC1D3 and USP32 fusion|Tre-2 oncogene" "HRP1|TRESMCR" "ubiquitin specific protease 6 (Tre-2 oncogene)|TRE oncogene, Smith Magenis syndrome chromosome region|ubiquitin specific peptidase 6 (Tre-2 oncogene)" Ubiquitin specific peptidases 366 1999-02-01 2014-06-12 2023-01-20 9098 ENSG00000129204 OTTHUMG00000099449 uc002gau.2 X63547 NM_004505 CCDS11069 P35125 "12838346|1349106" USP6 604334 C19.009 3.4.19.12 HGNC:12629 "ENST00000574788.6|NM_001304284.2" -HGNC:16858 USP6NL USP6 N-terminal like protein-coding gene gene with protein product Approved 10p14 10p14 "RNTRE|KIAA0019|TRE2NL|RN-tre" related to the N terminus of tre USP6NL-IT1 USP6NL intronic transcript 1 (non-protein coding) 2003-11-06 2023-01-20 9712 ENSG00000148429 OTTHUMG00000017672 uc001iks.1 BC010351 NM_014688 "CCDS91212|CCDS53492|CCDS44357" Q92738 "8700515|8700527|12399475" MGI:2138893 RGD:1311786 605405 HGNC:16858 "ENST00000609104.6|NM_014688.5" +HGNC:16858 USP6NL USP6 N-terminal like protein-coding gene gene with protein product Approved 10p14 10p14 "RNTRE|KIAA0019|TRE2NL|RN-tre" related to the N terminus of tre USP6NL-IT1 USP6NL intronic transcript 1 (non-protein coding) 2003-11-06 2023-01-20 9712 ENSG00000148429 OTTHUMG00000017672 uc001iks.1 BC010351 NM_014688 "CCDS44357|CCDS91212|CCDS53492" Q92738 "8700515|8700527|12399475" MGI:2138893 RGD:1311786 605405 HGNC:16858 "ENST00000609104.6|NM_014688.5" HGNC:55251 USP6NL-AS1 USP6NL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Antisense RNAs 1987 2020-09-24 2020-09-24 107984208 ENSG00000271360 NR_160647 HGNC:12630 USP7 ubiquitin specific peptidase 7 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 HAUSP ubiquitin specific peptidase 7 (herpes virus-associated) Ubiquitin specific peptidases 366 1998-10-12 2016-07-19 2023-01-20 7874 ENSG00000187555 OTTHUMG00000176903 uc002czl.2 Z72499 NM_001286457 "CCDS66941|CCDS32385" Q93009 "12838346|9925944" MGI:2182061 RGD:1306915 602519 471312 C19.016 HGNC:12630 "ENST00000344836.9|NM_003470.3" HGNC:12630 HGNC:55379 USP7-AS1 USP7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.2 16p13.2 Antisense RNAs 1987 2020-11-12 2020-11-12 105371074 ENSG00000260979 NR_184341 -HGNC:12631 USP8 ubiquitin specific peptidase 8 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "HumORF8|KIAA0055|UBPY|SPG59" "Ubiquitin carboxyl-terminal hydrolase 8|Ubiquitin isopeptidase Y" ubiquitin specific protease 8 Ubiquitin specific peptidases 366 1999-02-01 2005-08-08 2023-01-20 9101 ENSG00000138592 OTTHUMG00000131645 uc001zyn.6 D29956 NM_005154 "CCDS10137|CCDS61632" P40818 "12838346|9582025|24482476|17035239" MGI:1934029 RGD:1304979 USP8 603158 403334 C19.011 objectId:3209 3.4.19.12 HGNC:12631 "ENST00000307179.9|NM_005154.5" HGNC:12631 +HGNC:12631 USP8 ubiquitin specific peptidase 8 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "HumORF8|KIAA0055|UBPY|SPG59" "Ubiquitin carboxyl-terminal hydrolase 8|Ubiquitin isopeptidase Y" ubiquitin specific protease 8 Ubiquitin specific peptidases 366 1999-02-01 2005-08-08 2023-01-20 9101 ENSG00000138592 OTTHUMG00000131645 uc001zyn.6 D29956 NM_005154 "CCDS61632|CCDS10137" P40818 "12838346|9582025|24482476|17035239" MGI:1934029 RGD:1304979 USP8 603158 403334 C19.011 objectId:3209 3.4.19.12 HGNC:12631 "ENST00000307179.9|NM_005154.5" HGNC:12631 HGNC:13987 USP8P1 USP8 pseudogene 1 pseudogene pseudogene Approved 6p21.33 06p21.33 "KIAA0055-hom|D84394.7" USP8P "ubiquitin specific protease 8 pseudogene|ubiquitin specific peptidase 8 pseudogene|ubiquitin specific peptidase 8 pseudogene 1" 2004-01-12 2010-06-02 2019-10-16 2019-10-16 100287272 ENSG00000214892 OTTHUMG00000031047 NG_028817 PGOHUM00000262007 C19.P05 HGNC:13987 HGNC:54601 USP8P2 USP8 pseudogene 2 pseudogene pseudogene Approved 2q23.1 02q23.1 2019-10-16 2019-10-16 100420351 ENSG00000226340 NG_023618 -HGNC:12632 USP9X ubiquitin specific peptidase 9 X-linked protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "DFFRX|FAF|MRX99" "ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)|ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)|ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)" "Ubiquitin specific peptidases|Armadillo like helical domain containing" "366|1492" 1999-02-01 2018-04-26 2023-01-20 8239 ENSG00000124486 OTTHUMG00000021367 uc004dfb.3 X98296 NM_004652 "CCDS55403|CCDS43930|CCDS94594|CCDS94593" Q93008 8922996 MGI:894681 RGD:1560056 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/USP9X 300072 401212 C19.017 HGNC:12632 "ENST00000378308.7|NM_001039591.3" HGNC:12632 +HGNC:12632 USP9X ubiquitin specific peptidase 9 X-linked protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "DFFRX|FAF|MRX99" "ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)|ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)|ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)" "Ubiquitin specific peptidases|Armadillo like helical domain containing" "366|1492" 1999-02-01 2018-04-26 2023-01-20 8239 ENSG00000124486 OTTHUMG00000021367 uc004dfb.3 X98296 NM_004652 "CCDS43930|CCDS94593|CCDS94594|CCDS55403" Q93008 8922996 MGI:894681 RGD:1560056 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/USP9X 300072 401212 C19.017 HGNC:12632 "ENST00000378308.7|NM_001039591.3" HGNC:12632 HGNC:12633 USP9Y ubiquitin specific peptidase 9 Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 "DFFRY|AZFA" "fat facets-like homolog (Drosophila)|azoospermia factor A" ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila) "Ubiquitin specific peptidases|Minor histocompatibility antigens|Armadillo like helical domain containing" "366|870|1492" 1999-02-01 2018-04-26 2023-01-20 8287 ENSG00000114374 OTTHUMG00000036469 uc004fst.2 Y13618 NM_004654 CCDS14781 O00507 "8922996|9384609|19246359" MGI:1313274 RGD:9087771 400005 120450 C19.028 HGNC:12633 "ENST00000338981.7|NM_004654.4" HGNC:31741 USP9YP1 USP9Y pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 "USP9Y pseudogene 1|ubiquitin specific peptidase 9, Y-linked pseudogene 1" 2004-06-24 2018-04-26 2018-04-26 387362 ENSG00000250951 OTTHUMG00000041979 NG_003171 12815422 PGOHUM00000233993 HGNC:31741 HGNC:31742 USP9YP2 USP9Y pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 "USP9Y pseudogene 2|ubiquitin specific peptidase 9, Y-linked pseudogene 2" 2004-06-24 2018-04-26 2018-04-26 387363 ENSG00000249501 OTTHUMG00000041954 NG_003172 12815422 PGOHUM00000233779 HGNC:31742 @@ -41713,7 +41715,7 @@ HGNC:44456 USP17L28 ubiquitin specific peptidase 17 like family member 28 protei HGNC:44457 USP17L29 ubiquitin specific peptidase 17 like family member 29 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2023-01-20 728405 ENSG00000231637 OTTHUMG00000160183 uc021xlr.1 NM_001242332 CCDS59470 Q0WX57 "MGI:107697|MGI:107698|MGI:107699|MGI:3051372|MGI:3051498" HGNC:44457 "ENST00000511681.1|NM_001242332.1" HGNC:44458 USP17L30 ubiquitin specific peptidase 17 like family member 30 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2023-01-20 728419 ENSG00000228856 OTTHUMG00000160199 uc031sdr.1 NM_001256867 CCDS59471 Q0WX57 "MGI:107697|MGI:107698|MGI:107699|MGI:3051372|MGI:3051498" HGNC:44458 "ENST00000504104.1|NM_001256867.1" HGNC:12616 USP18 ubiquitin specific peptidase 18 protein-coding gene gene with protein product Approved 22q11.2 22q11.2 Ubl carboxyl-terminal hydrolase 18 ubiquitin specific protease 18 Ubiquitin specific peptidases 366 1999-11-16 2005-08-08 2023-01-20 11274 ENSG00000184979 OTTHUMG00000150104 uc002zny.4 AJ243526 NM_017414 Q9UMW8 12838346 MGI:1344364 RGD:1359153 607057 C19.030 HGNC:12616 "ENST00000215794.8|NM_017414.4" HGNC:12616 -HGNC:12617 USP19 ubiquitin specific peptidase 19 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "KIAA0891|ZMYND9" ubiquitin specific protease 19 "Zinc fingers MYND-type|Ubiquitin specific peptidases" "87|366" 1999-09-16 2005-08-08 2023-01-20 10869 ENSG00000172046 OTTHUMG00000133611 uc003cwd.3 AB020698 NM_006677 "CCDS56254|CCDS93274|CCDS93271|CCDS93270|CCDS93272|CCDS56256|CCDS56255|CCDS43090|CCDS93273" O94966 12838346 MGI:1918722 RGD:1303276 614471 C19.024 HGNC:12617 "ENST00000417901.6|NM_001199161.2" +HGNC:12617 USP19 ubiquitin specific peptidase 19 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "KIAA0891|ZMYND9" ubiquitin specific protease 19 "Zinc fingers MYND-type|Ubiquitin specific peptidases" "87|366" 1999-09-16 2005-08-08 2023-01-20 10869 ENSG00000172046 OTTHUMG00000133611 uc003cwd.3 AB020698 NM_006677 "CCDS93271|CCDS43090|CCDS56255|CCDS93274|CCDS93272|CCDS56254|CCDS93270|CCDS56256|CCDS93273" O94966 12838346 MGI:1918722 RGD:1303276 614471 C19.024 HGNC:12617 "ENST00000417901.6|NM_001199161.2" HGNC:12619 USP20 ubiquitin specific peptidase 20 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 KIAA1003 ubiquitin specific protease 20 "Ubiquitin specific peptidases|MicroRNA protein coding host genes" "366|1691" 1999-09-16 2005-08-08 2023-01-20 10868 ENSG00000136878 OTTHUMG00000020793 uc004bys.4 AB023220 NM_001008563 Q9Y2K6 12838346 MGI:1921520 RGD:1305621 LRG_711|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_711.xml 615143 471306 C19.025 HGNC:12619 "ENST00000372429.8|NM_001110303.4" HGNC:12620 USP21 ubiquitin specific peptidase 21 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 USP16 USP23 ubiquitin specific protease 21 Ubiquitin specific peptidases 366 2000-06-08 2005-08-08 2023-01-20 27005 ENSG00000143258 OTTHUMG00000033154 uc031vci.2 AF177758 NM_001014443 "CCDS81392|CCDS30920" Q9UK80 "12838346|10799498" MGI:1353665 RGD:1588822 604729 C19.034 objectId:3223 HGNC:12620 "ENST00000368002.8|NM_001014443.3" HGNC:54618 USP21P1 USP21 pseudogene 1 pseudogene pseudogene Approved 2q36.1 02q36.1 2019-10-17 2019-10-17 100420435 ENSG00000224826 NG_023765 @@ -41721,11 +41723,11 @@ HGNC:54650 USP21P2 USP21 pseudogene 2 pseudogene pseudogene Approved 2p12 02p12 HGNC:12621 USP22 ubiquitin specific peptidase 22 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 KIAA1063 USP3L "ubiquitin specific protease 22|ubiquitin specific peptidase 3-like" "Ubiquitin specific peptidases|SAGA complex" "366|1059" 1999-12-20 2005-08-08 2023-01-20 23326 ENSG00000124422 OTTHUMG00000133621 uc002gym.4 AB028986 NM_015276 CCDS42285 Q9UPT9 12838346 MGI:2144157 RGD:1310354 612116 C19.035 HGNC:12621 "ENST00000261497.9|NM_015276.2" HGNC:12623 USP24 ubiquitin specific peptidase 24 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 KIAA1057 ubiquitin specific protease 24 Ubiquitin specific peptidases 366 1999-12-20 2005-08-08 2023-01-20 23358 ENSG00000162402 OTTHUMG00000008135 uc021onw.2 AB028980 NM_015306 CCDS44154 Q9UPU5 12838346 MGI:1919936 RGD:1306799 610569 C19.047 HGNC:12623 "ENST00000294383.7|NM_015306.3" HGNC:42014 USP24P1 ubiquitin specific peptidase 24 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-06-01 2014-11-18 100874248 ENSG00000229375 OTTHUMG00000016474 NG_032390 HGNC:42014 -HGNC:12624 USP25 ubiquitin specific peptidase 25 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 USP21 ubiquitin specific protease 25 Ubiquitin specific peptidases 366 2000-02-10 2005-08-08 2023-01-20 29761 ENSG00000155313 OTTHUMG00000074343 uc002yjy.3 AF170562 NM_001283041 "CCDS63337|CCDS33515|CCDS63336" Q9UHP3 "12838346|10612803" MGI:1353655 RGD:1309003 604736 C19.041 3.4.19.12 HGNC:12624 "ENST00000400183.7|NM_001283041.3" +HGNC:12624 USP25 ubiquitin specific peptidase 25 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 USP21 ubiquitin specific protease 25 Ubiquitin specific peptidases 366 2000-02-10 2005-08-08 2023-01-20 29761 ENSG00000155313 OTTHUMG00000074343 uc002yjy.3 AF170562 NM_001283041 "CCDS63336|CCDS33515|CCDS63337" Q9UHP3 "12838346|10612803" MGI:1353655 RGD:1309003 604736 C19.041 3.4.19.12 HGNC:12624 "ENST00000400183.7|NM_001283041.3" HGNC:13485 USP26 ubiquitin specific peptidase 26 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 ubiquitin specific protease 26 Ubiquitin specific peptidases 366 2001-04-26 2005-08-08 2023-01-20 83844 ENSG00000134588 OTTHUMG00000022429 uc010nrm.1 AF285593 NM_031907 CCDS14635 Q9BXU7 12838346 MGI:1933247 RGD:1563443 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/USP26 300309 C19.046 3.4.19.12 HGNC:13485 "ENST00000511190.6|NM_031907.3" HGNC:13486 USP27X ubiquitin specific peptidase 27 X-linked protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 USP27 "ubiquitin specific protease 27, X chromosome|ubiquitin specific protease 27, X-linked" Ubiquitin specific peptidases 366 2003-09-04 2018-04-26 2023-01-20 389856 ENSG00000273820 OTTHUMG00000189037 uc033edm.2 AW851065 NM_001145073 CCDS65260 A6NNY8 12838346 MGI:1859645 RGD:1564628 300975 468841 3.4.19.12 HGNC:13486 "ENST00000621775.2|NM_001145073.3" HGNC:13486 HGNC:27249 USP27X-DT USP27X divergent transcript non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 USP27X-AS1 USP27X antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-17 2020-09-29 2020-09-29 2020-09-29 158572 ENSG00000234390 OTTHUMG00000024154 NR_026742 USP27X-AS1 HGNC:27249 -HGNC:12625 USP28 ubiquitin specific peptidase 28 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 KIAA1515 ubiquitin specific protease 28 Ubiquitin specific peptidases 366 2000-05-26 2005-08-08 2023-01-20 57646 ENSG00000048028 OTTHUMG00000168205 uc001poh.4 AB040948 NM_001301029 "CCDS86248|CCDS31680|CCDS91596|CCDS73394" Q96RU2 "12838346|11597335" MGI:2442293 RGD:1311555 610748 C19.054 HGNC:12625 "ENST00000696973.1|NM_001346252.4" +HGNC:12625 USP28 ubiquitin specific peptidase 28 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 KIAA1515 ubiquitin specific protease 28 Ubiquitin specific peptidases 366 2000-05-26 2005-08-08 2023-01-20 57646 ENSG00000048028 OTTHUMG00000168205 uc001poh.4 AB040948 NM_001301029 "CCDS86248|CCDS73394|CCDS31680|CCDS91596" Q96RU2 "12838346|11597335" MGI:2442293 RGD:1311555 610748 C19.054 HGNC:12625 "ENST00000696973.1|NM_001346252.4" HGNC:18563 USP29 ubiquitin specific peptidase 29 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ubiquitin specific protease 29 Ubiquitin specific peptidases 366 2002-04-30 2005-08-08 2023-01-20 57663 ENSG00000131864 OTTHUMG00000183101 uc002qny.4 NM_001389643 CCDS33124 Q9HBJ7 12838346 MGI:1888998 RGD:1306648 609546 C19.040 HGNC:18563 "ENST00000254181.9|NM_020903.3" HGNC:20065 USP30 ubiquitin specific peptidase 30 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "MGC10702|FLJ40511" ubiquitin specific protease 30 Ubiquitin specific peptidases 366 2003-09-30 2005-08-08 2023-01-20 84749 ENSG00000135093 OTTHUMG00000133613 uc010sxi.3 BC022094 NM_032663 "CCDS76599|CCDS9123" Q70CQ3 12838346 MGI:2140991 RGD:1307949 612492 C19.060 HGNC:20065 "ENST00000257548.10|NM_032663.5" HGNC:40909 USP30-AS1 USP30 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.11 12q24.11 USP30 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-18 100131733 ENSG00000256262 OTTHUMG00000169245 uc021rdn.2 NR_038996 USP30-AS1 HGNC:40909 @@ -41735,32 +41737,32 @@ HGNC:43570 USP32P1 ubiquitin specific peptidase 32 pseudogene 1 pseudogene pseud HGNC:30751 USP32P2 ubiquitin specific peptidase 32 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 TL132 2011-11-10 2014-03-20 220594 ENSG00000233327 OTTHUMG00000186369 NR_003554 11997339 PGOHUM00000250808 HGNC:30751 HGNC:43576 USP32P3 ubiquitin specific peptidase 32 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2011-11-10 2013-02-15 347716 ENSG00000189423 OTTHUMG00000179809 NG_002719 PGOHUM00000250833 HGNC:43576 HGNC:43577 USP32P4 ubiquitin specific peptidase 32 pseudogene 4 pseudogene pseudogene Approved 17q23.2 17q23.2 2011-11-10 2021-07-02 100874252 ENSG00000263887 NG_032561 PGOHUM00000259193 HGNC:43577 -HGNC:20059 USP33 ubiquitin specific peptidase 33 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KIAA1097|VDU1" ubiquitin specific protease 33 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 23032 ENSG00000077254 OTTHUMG00000009651 uc001dhu.5 AF383173 NM_015017 "CCDS679|CCDS678|CCDS680" Q8TEY7 12838346 MGI:2159711 RGD:1307848 615146 C19.037 HGNC:20059 "ENST00000370794.7|NM_201624.3" +HGNC:20059 USP33 ubiquitin specific peptidase 33 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KIAA1097|VDU1" ubiquitin specific protease 33 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 23032 ENSG00000077254 OTTHUMG00000009651 uc001dhu.5 AF383173 NM_015017 "CCDS680|CCDS679|CCDS678" Q8TEY7 12838346 MGI:2159711 RGD:1307848 615146 C19.037 HGNC:20059 "ENST00000370794.7|NM_201624.3" HGNC:20066 USP34 ubiquitin specific peptidase 34 protein-coding gene gene with protein product Approved 2p15 02p15 "KIAA0570|KIAA0729" ubiquitin specific protease 34 "Ubiquitin specific peptidases|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes" "366|1492|1835" 2003-09-04 2005-08-08 2023-01-20 9736 ENSG00000115464 OTTHUMG00000152265 uc002sbe.4 AB011142 NM_014709 CCDS42686 Q70CQ2 12838346 MGI:109473 RGD:1565181 615295 471308 C19.067 HGNC:20066 "ENST00000398571.7|NM_014709.4" -HGNC:55262 USP34-DT USP34 divergent transcript non-coding RNA RNA, long non-coding Approved 2p15 02p15 Divergent transcripts 1990 2020-09-27 2020-09-27 105377633 ENSG00000270820 +HGNC:55262 USP34-DT USP34 divergent transcript non-coding RNA RNA, long non-coding Approved 2p15 02p15 Divergent transcripts 1990 2020-09-27 2020-09-27 105377633 ENSG00000270820 NR_185882 HGNC:20061 USP35 ubiquitin specific peptidase 35 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 KIAA1372 ubiquitin specific protease 35 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 57558 ENSG00000118369 OTTHUMG00000166492 uc021qny.2 AB037793 NM_020798 CCDS41693 Q9P2H5 12838346 MGI:2685339 RGD:1565984 C19.059 HGNC:20061 "ENST00000529308.6|NM_020798.4" HGNC:20062 USP36 ubiquitin specific peptidase 36 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1453|FLJ12851" ubiquitin specific protease 36 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 57602 ENSG00000055483 OTTHUMG00000177542 uc002jwa.2 AB040886 NM_025090 CCDS32755 Q9P275 12838346 MGI:1919594 RGD:1309937 612543 C19.042 HGNC:20062 "ENST00000449938.7|NM_001385174.1" HGNC:20063 USP37 ubiquitin specific peptidase 37 protein-coding gene gene with protein product Approved 2q35 02q35 KIAA1594 ubiquitin specific protease 37 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 57695 ENSG00000135913 OTTHUMG00000133113 uc010fvs.1 AB046814 NM_020935 CCDS2418 Q86T82 12838346 MGI:2442483 RGD:2319715 620226 C19.053 HGNC:20063 "ENST00000258399.8|NM_020935.3" HGNC:55020 USP37P1 USP37 pseudogene 1 pseudogene pseudogene Approved Xq21.32 Xq21.32 2020-05-22 2020-05-22 117981792 ENSG00000270826 NG_070708 -HGNC:20067 USP38 ubiquitin specific peptidase 38 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "KIAA1891|HP43.8KD" ubiquitin specific protease 38 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 84640 ENSG00000170185 OTTHUMG00000161420 uc003ijb.4 AF211481 NM_032557 "CCDS77964|CCDS3758|CCDS93639" Q8NB14 12838346 MGI:1922091 RGD:1311974 618322 C19.056 HGNC:20067 "ENST00000307017.9|NM_032557.6" -HGNC:55554 USP38-DT USP38 divergent transcript non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 Divergent transcripts 1990 2021-03-26 2021-03-26 121009650 ENSG00000250326 -HGNC:20071 USP39 ubiquitin specific peptidase 39 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "SAD1|CGI-21|SNRNP65" "snRNP assembly defective 1 homolog (S. cerevisiae)|small nuclear ribonucleoprotein 65kDa (U4/U6.U5)" ubiquitin specific protease 39 "Ubiquitin specific peptidases|tri-snRP complex" "366|1506" 2003-09-04 2005-08-08 2023-01-20 10713 ENSG00000168883 OTTHUMG00000153090 uc002sqe.5 AF132955 NM_006590 "CCDS58716|CCDS33234|CCDS74534|CCDS58717" Q53GS9 12838346 MGI:107622 RGD:1308103 611594 HGNC:20071 "ENST00000323701.11|NM_006590.4" -HGNC:20069 USP40 ubiquitin specific peptidase 40 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 FLJ10785 ubiquitin specific protease 40 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 55230 ENSG00000085982 OTTHUMG00000153199 uc010zmr.3 AK001647 NM_018218 "CCDS92973|CCDS46547|CCDS92972" Q9NVE5 12838346 MGI:2443184 RGD:1309613 610570 C19.069 HGNC:20069 "ENST00000678225.2|NM_001365479.2" +HGNC:20067 USP38 ubiquitin specific peptidase 38 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "KIAA1891|HP43.8KD" ubiquitin specific protease 38 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 84640 ENSG00000170185 OTTHUMG00000161420 uc003ijb.4 AF211481 NM_032557 "CCDS3758|CCDS77964|CCDS93639" Q8NB14 12838346 MGI:1922091 RGD:1311974 618322 C19.056 HGNC:20067 "ENST00000307017.9|NM_032557.6" +HGNC:55554 USP38-DT USP38 divergent transcript non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 Divergent transcripts 1990 2021-03-26 2023-06-09 105377623 ENSG00000250326 NR_185979.1 +HGNC:20071 USP39 ubiquitin specific peptidase 39 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "SAD1|CGI-21|SNRNP65" "snRNP assembly defective 1 homolog (S. cerevisiae)|small nuclear ribonucleoprotein 65kDa (U4/U6.U5)" ubiquitin specific protease 39 "Ubiquitin specific peptidases|tri-snRP complex" "366|1506" 2003-09-04 2005-08-08 2023-01-20 10713 ENSG00000168883 OTTHUMG00000153090 uc002sqe.5 AF132955 NM_006590 "CCDS33234|CCDS74534|CCDS58717|CCDS58716" Q53GS9 12838346 MGI:107622 RGD:1308103 611594 HGNC:20071 "ENST00000323701.11|NM_006590.4" +HGNC:20069 USP40 ubiquitin specific peptidase 40 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 FLJ10785 ubiquitin specific protease 40 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 55230 ENSG00000085982 OTTHUMG00000153199 uc010zmr.3 AK001647 NM_018218 "CCDS92972|CCDS46547|CCDS92973" Q9NVE5 12838346 MGI:2443184 RGD:1309613 610570 C19.069 HGNC:20069 "ENST00000678225.2|NM_001365479.2" HGNC:20070 USP41P ubiquitin specific peptidase 41, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 USP18B USP41 "ubiquitin specific protease 41|ubiquitin specific peptidase 41" Ubiquitin specific peptidases 366 2003-09-04 2023-05-19 2023-05-19 2023-05-19 373856 ENSG00000161133 OTTHUMG00000151317 uc062bsg.1 AJ586979 NG_081804 Q3LFD5 12838346 MGI:1344364 C19.070 HGNC:20070 HGNC:20068 USP42 ubiquitin specific peptidase 42 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 FLJ12697 ubiquitin specific protease 42 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 84132 ENSG00000106346 OTTHUMG00000151888 uc011jwp.3 AK022759 NM_032172 CCDS47535 Q9H9J4 12838346 MGI:1924050 RGD:1305231 C19.048 HGNC:20068 "ENST00000306177.10|NM_032172.3" -HGNC:20072 USP43 ubiquitin specific peptidase 43 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ30626 ubiquitin specific protease 43 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 124739 ENSG00000154914 OTTHUMG00000177942 uc010cod.5 AK055188 NM_153210 "CCDS58516|CCDS45610" Q70EL4 12838346 MGI:2444541 RGD:2303824 C19.976 HGNC:20072 "ENST00000285199.12|NM_153210.5" +HGNC:20072 USP43 ubiquitin specific peptidase 43 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ30626 ubiquitin specific protease 43 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 124739 ENSG00000154914 OTTHUMG00000177942 uc010cod.5 AK055188 NM_153210 "CCDS45610|CCDS58516" Q70EL4 12838346 MGI:2444541 RGD:2303824 C19.976 HGNC:20072 "ENST00000285199.12|NM_153210.5" HGNC:20064 USP44 ubiquitin specific peptidase 44 protein-coding gene gene with protein product Approved 12q22 12q22 FLJ14528 ubiquitin specific protease 44 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 84101 ENSG00000136014 OTTHUMG00000170281 uc001teh.5 AK027434 NM_032147 CCDS9053 Q9H0E7 12838346 MGI:3045318 RGD:1308216 610993 471310 C19.057 HGNC:20064 "ENST00000258499.8|NM_032147.5" -HGNC:20080 USP45 ubiquitin specific peptidase 45 protein-coding gene gene with protein product Approved 6q16.2 06q16.2 MGC14793 ubiquitin specific protease 45 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 85015 ENSG00000123552 OTTHUMG00000015267 uc063qfl.1 AL832030 NM_032929 "CCDS87419|CCDS34501" Q70EL2 12838346 MGI:101850 RGD:1310976 618439 C19.064 HGNC:20080 "ENST00000500704.7|NM_001346022.3" HGNC:20080 +HGNC:20080 USP45 ubiquitin specific peptidase 45 protein-coding gene gene with protein product Approved 6q16.2 06q16.2 MGC14793 ubiquitin specific protease 45 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 85015 ENSG00000123552 OTTHUMG00000015267 uc063qfl.1 AL832030 NM_032929 "CCDS34501|CCDS87419" Q70EL2 12838346 MGI:101850 RGD:1310976 618439 C19.064 HGNC:20080 "ENST00000500704.7|NM_001346022.3" HGNC:20080 HGNC:20075 USP46 ubiquitin specific peptidase 46 protein-coding gene gene with protein product Approved 4q12 04q12 FLJ12552 ubiquitin specific protease 46 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 64854 ENSG00000109189 OTTHUMG00000160640 uc003gzn.4 AK022614 NM_022832 "CCDS47053|CCDS47054" P62068 12838346 MGI:1916977 RGD:1564808 612849 C19.052 HGNC:20075 "ENST00000441222.8|NM_022832.4" HGNC:43991 USP46-DT USP46 divergent transcript non-coding RNA RNA, long non-coding Approved 4q12 04q12 USP46-AS1 "USP46 antisense RNA 1 (non-protein coding)|USP46 antisense RNA 1" Divergent transcripts 1990 2012-05-25 2020-01-16 2020-01-16 2020-01-16 643783 ENSG00000248866 OTTHUMG00000160639 uc062wov.1 "BX354350|CN313378" NR_125363 USP46-AS1 HGNC:43991 -HGNC:20076 USP47 ubiquitin specific peptidase 47 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)|ubiquitin specific protease 47" Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 55031 ENSG00000170242 OTTHUMG00000165685 uc001mjr.4 AK027362 NM_017944 "CCDS60725|CCDS81554|CCDS41619" Q96K76 12838346 MGI:1922246 RGD:1310411 614460 C19.055 HGNC:20076 "ENST00000527733.7|NM_001282659.2" -HGNC:18533 USP48 ubiquitin specific peptidase 48 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "FLJ23277|FLJ11328|FLJ20103|FLJ23054|MGC14879" USP31 "ubiquitin specific protease 31|ubiquitin specific protease 48" Ubiquitin specific peptidases 366 2003-05-29 2004-04-07 2005-08-08 2023-03-17 84196 ENSG00000090686 OTTHUMG00000007798 uc001bfb.4 AF502942 NM_032236 "CCDS30623|CCDS81277|CCDS44084" Q86UV5 "12838346|15354349" MGI:2158502 RGD:735213 617445 C19.068 HGNC:18533 "ENST00000308271.14|NM_032236.8" HGNC:18533 -HGNC:20078 USP49 ubiquitin specific peptidase 49 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MGC20741 ubiquitin specific protease 49 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 25862 ENSG00000164663 OTTHUMG00000014688 uc003orh.3 AJ586139 NM_018561 "CCDS69111|CCDS4861" Q70CQ1 14715245 MGI:2685391 RGD:1310513 C19.073 HGNC:20078 "ENST00000682992.1|NM_001286554.2" +HGNC:20076 USP47 ubiquitin specific peptidase 47 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)|ubiquitin specific protease 47" Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 55031 ENSG00000170242 OTTHUMG00000165685 uc001mjr.4 AK027362 NM_017944 "CCDS60725|CCDS41619|CCDS81554" Q96K76 12838346 MGI:1922246 RGD:1310411 614460 C19.055 HGNC:20076 "ENST00000527733.7|NM_001282659.2" +HGNC:18533 USP48 ubiquitin specific peptidase 48 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "FLJ23277|FLJ11328|FLJ20103|FLJ23054|MGC14879" USP31 "ubiquitin specific protease 31|ubiquitin specific protease 48" Ubiquitin specific peptidases 366 2003-05-29 2004-04-07 2005-08-08 2023-03-17 84196 ENSG00000090686 OTTHUMG00000007798 uc001bfb.4 AF502942 NM_032236 "CCDS44084|CCDS81277|CCDS30623" Q86UV5 "12838346|15354349" MGI:2158502 RGD:735213 617445 C19.068 HGNC:18533 "ENST00000308271.14|NM_032236.8" HGNC:18533 +HGNC:20078 USP49 ubiquitin specific peptidase 49 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MGC20741 ubiquitin specific protease 49 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 25862 ENSG00000164663 OTTHUMG00000014688 uc003orh.3 AJ586139 NM_018561 "CCDS4861|CCDS69111" Q70CQ1 14715245 MGI:2685391 RGD:1310513 C19.073 HGNC:20078 "ENST00000682992.1|NM_001286554.2" HGNC:20079 USP50 ubiquitin specific peptidase 50 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 ubiquitin specific protease 50 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 373509 ENSG00000170236 OTTHUMG00000167591 uc021sky.2 AI990110 NM_203494 CCDS53944 Q70EL3 12838346 MGI:1922333 RGD:1564751 C19.058 HGNC:20079 "ENST00000532404.6|NM_203494.5" HGNC:23086 USP51 ubiquitin specific peptidase 51 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 ubiquitin specific protease 51 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2023-01-20 158880 ENSG00000247746 OTTHUMG00000021656 uc004dun.3 BF741256 NM_201286 CCDS14370 Q70EK9 12838346 MGI:3588217 RGD:1562211 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/USP51 C19.065 HGNC:23086 "ENST00000500968.4|NM_201286.4" HGNC:29255 USP53 ubiquitin specific peptidase 53 protein-coding gene gene with protein product Approved 4q26 04q26 KIAA1350 ubiquitin specific protease 53 Ubiquitin specific peptidases 366 2004-01-28 2005-08-08 2023-01-20 54532 ENSG00000145390 OTTHUMG00000161331 uc003icr.5 BC017382 NM_019050 "CCDS43265|CCDS93614" Q70EK8 "10718198|14715245" MGI:2139607 RGD:1306615 617431 C19.081 HGNC:29255 "ENST00000692078.1|NM_001371395.1" HGNC:29255 HGNC:23513 USP54 ubiquitin specific peptidase 54 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "FLJ37318|bA137L10.3|bA137L10.4" C10orf29 "chromosome 10 open reading frame 29|ubiquitin specific protease 54" Ubiquitin specific peptidases 366 2003-11-21 2004-01-30 2005-08-08 2023-01-20 159195 ENSG00000166348 OTTHUMG00000018469 uc001juo.4 AJ583820 NM_152586 "CCDS7329|CCDS91265" Q70EL1 14715245 MGI:1926037 RGD:1303206 C19.080 HGNC:23513 "ENST00000687698.1|NM_001391956.1" -HGNC:20294 USPL1 ubiquitin specific peptidase like 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "bA121O19.1|D13S106E" C13orf22 chromosome 13 open reading frame 22 "Ubiquitin specific peptidases|Ubiquitin specific peptidase like " "366|988" 2004-04-16 2005-11-24 2005-11-24 2023-01-20 10208 ENSG00000132952 OTTHUMG00000016675 uc001utc.3 X59131 NM_005800 "CCDS9336|CCDS81760" Q5W0Q7 22878415 MGI:2442342 RGD:1310835 617470 HGNC:20294 "ENST00000255304.9|NM_005800.5" +HGNC:20294 USPL1 ubiquitin specific peptidase like 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "bA121O19.1|D13S106E" C13orf22 chromosome 13 open reading frame 22 "Ubiquitin specific peptidases|Ubiquitin specific peptidase like " "366|988" 2004-04-16 2005-11-24 2005-11-24 2023-01-20 10208 ENSG00000132952 OTTHUMG00000016675 uc001utc.3 X59131 NM_005800 "CCDS81760|CCDS9336" Q5W0Q7 22878415 MGI:2442342 RGD:1310835 617470 HGNC:20294 "ENST00000255304.9|NM_005800.5" HGNC:17223 UST uronyl 2-sulfotransferase protein-coding gene gene with protein product Approved 6q25.1 06q25.1 2OST Sulfotransferases, membrane bound 763 2001-12-07 2016-03-14 2023-01-20 10090 ENSG00000111962 OTTHUMG00000016135 uc003qmg.4 AB020316 NM_005715 CCDS5213 Q9Y2C2 10187838 MGI:2442406 RGD:1304743 610752 HGNC:17223 "ENST00000367463.5|NM_005715.3" HGNC:40802 UST-AS1 UST antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.1 06q25.1 Antisense RNAs 1987 2015-10-15 2015-10-15 100128176 ENSG00000227660 OTTHUMG00000015777 NR_038408 UST-AS1 HGNC:40802 HGNC:40803 UST-AS2 UST antisense RNA 2 non-coding RNA RNA, long non-coding Approved 6q25.1 06q25.1 Antisense RNAs 1987 2020-04-16 2020-04-16 105378047 ENSG00000236591 OTTHUMG00000015778 NR_134599 @@ -41769,58 +41771,58 @@ HGNC:24477 UTP3 UTP3 small subunit processome component protein-coding gene gene HGNC:1983 UTP4 UTP4 small subunit processome component protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "NAIC|FLJ14728|KIAA1988|TEX292|CIRHIN" UTP4, small subunit (SSU) processome component, homolog (yeast) CIRH1A cirrhosis, autosomal recessive 1A (cirhin) "WD repeat domain containing|UTPa subcomplex" "362|1483" 2000-03-15 2015-11-03 2019-01-22 2023-01-20 84916 ENSG00000141076 OTTHUMG00000137570 uc002ews.5 AB075868 NM_032830 CCDS10872 Q969X6 "10820129|20385600" MGI:1096573 RGD:1311341 607456 173184 HGNC:1983 "ENST00000314423.12|NM_032830.3" HGNC:1983 HGNC:18279 UTP6 UTP6 small subunit processome component protein-coding gene gene with protein product Approved 17q11.2 17q11.2 HCA66 hepatocellular carcinoma associated antigen 66 C17orf40 "chromosome 17 open reading frame 40|UTP6, small subunit (SSU) processome component, homolog (yeast)" UTPb subcomplex 1225 2005-05-24 2006-05-16 2019-01-22 2023-01-20 55813 ENSG00000108651 OTTHUMG00000132815 uc002hgr.4 AF116631 NM_018428 CCDS11269 Q9NYH9 "10843809|16138909|22434888" MGI:2445193 RGD:1311017 HGNC:18279 "ENST00000261708.9|NM_018428.3" HGNC:24329 UTP11 UTP11 small subunit processome component protein-coding gene gene with protein product Approved 1p34.3 01p34.3 CGI-94 UTP11L UTP11-like, U3 small nucleolar ribonucleoprotein (yeast) SSU processome 1484 2005-06-22 2016-02-25 2019-01-22 2023-01-20 51118 ENSG00000183520 OTTHUMG00000004435 uc001ccn.5 AF151852 NM_016037 CCDS429 Q9Y3A2 "11860508|10810093" MGI:1914455 RGD:621412 609440 HGNC:24329 "ENST00000373014.5|NM_016037.4" -HGNC:10665 UTP14A UTP14A small subunit processome component protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "NY-CO-16|Utp14" SDCCAG16 "serologically defined colon cancer antigen 16|UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)" SSU processome 1484 1999-08-25 2004-06-01 2019-01-22 2023-01-20 10813 ENSG00000156697 OTTHUMG00000022378 uc004euz.4 AF039694 NM_006649 "CCDS14615|CCDS55489" Q9BVJ6 "9610721|16354793|21078665" MGI:1919804 RGD:1359313 300508 HGNC:10665 "ENST00000394422.8|NM_006649.4" +HGNC:10665 UTP14A UTP14A small subunit processome component protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "NY-CO-16|Utp14" SDCCAG16 "serologically defined colon cancer antigen 16|UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)" SSU processome 1484 1999-08-25 2004-06-01 2019-01-22 2023-01-20 10813 ENSG00000156697 OTTHUMG00000022378 uc004euz.4 AF039694 NM_006649 "CCDS55489|CCDS14615" Q9BVJ6 "9610721|16354793|21078665" MGI:1919804 RGD:1359313 300508 HGNC:10665 "ENST00000394422.8|NM_006649.4" HGNC:20321 UTP14C UTP14C small subunit processome component protein-coding gene gene with protein product Approved 13q14.3 13q14.3 2700066J21Rik KIAA0266 "KIAA0266|UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)" SSU processome 1484 2003-11-21 2004-06-16 2019-01-22 2023-01-20 9724 ENSG00000253797 OTTHUMG00000164353 uc058xgb.1 D87455 NM_021645 CCDS31978 Q5TAP6 "9039502|16354793" "MGI:1919804|MGI:2445092" 608969 HGNC:20321 "ENST00000521776.2|NM_021645.6" -HGNC:25758 UTP15 UTP15 small subunit processome component protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "FLJ12787|NET21|FLJ23637" "UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)|UTP15 SSU processome component" "WD repeat domain containing|UTPa subcomplex" "362|1483" 2005-08-08 2019-01-22 2023-01-20 84135 ENSG00000164338 OTTHUMG00000162453 uc003kcw.3 AL831972 NM_032175 "CCDS68894|CCDS68893|CCDS34186" Q8TED0 "24219289|24754225" MGI:2145443 RGD:1310992 616194 HGNC:25758 "ENST00000296792.9|NM_032175.4" +HGNC:25758 UTP15 UTP15 small subunit processome component protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "FLJ12787|NET21|FLJ23637" "UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)|UTP15 SSU processome component" "WD repeat domain containing|UTPa subcomplex" "362|1483" 2005-08-08 2019-01-22 2023-01-20 84135 ENSG00000164338 OTTHUMG00000162453 uc003kcw.3 AL831972 NM_032175 "CCDS68893|CCDS34186|CCDS68894" Q8TED0 "24219289|24754225" MGI:2145443 RGD:1310992 616194 HGNC:25758 "ENST00000296792.9|NM_032175.4" HGNC:24274 UTP18 UTP18 small subunit processome component protein-coding gene gene with protein product Approved 17q21.33 17q21.33 CGI-48 WDR50 "WD repeat domain 50|UTP18 small subunit (SSU) processome component homolog (yeast)" "WD repeat domain containing|UTPb subcomplex" "362|1225" 2005-02-01 2006-05-16 2019-01-22 2023-01-20 51096 ENSG00000011260 OTTHUMG00000162370 uc002its.4 AF151806 NM_016001 CCDS42362 Q9Y5J1 "10810093|8619474|15590835" MGI:1923402 RGD:1309957 612816 HGNC:24274 "ENST00000225298.12|NM_016001.3" HGNC:17897 UTP20 UTP20 small subunit processome component protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "DRIM|1A6/DRIM" down regulated in metastasis UTP20, small subunit (SSU) processome component, homolog (yeast) "SSU processome|Armadillo like helical domain containing" "1484|1492" 2006-02-10 2019-01-22 2023-01-20 27340 ENSG00000120800 OTTHUMG00000170270 uc001tia.2 AJ006778 NM_014503 CCDS9081 O75691 "9673349|15590835|17498821" MGI:1917933 RGD:1560606 612822 HGNC:17897 "ENST00000261637.5|NM_014503.3" HGNC:28224 UTP23 UTP23 small subunit processome component protein-coding gene gene with protein product Approved 8q24.11 08q24.11 MGC14595 C8orf53 "chromosome 8 open reading frame 53|UTP23, small subunit (SSU) processome component, homolog (yeast)" SSU processome 1484 2005-08-16 2008-06-12 2019-01-22 2023-01-20 84294 ENSG00000147679 OTTHUMG00000164958 uc003yoc.4 NM_032334 CCDS6320 Q9BRU9 "16769905|22180534" MGI:1925831 RGD:1307179 HGNC:28224 "ENST00000309822.7|NM_032334.3" HGNC:28440 UTP25 UTP25 small subunit processome component protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "MGC29875|DEF" "C1orf107|DIEXF" "chromosome 1 open reading frame 107|digestive organ expansion factor homolog (zebrafish)|UTP25, small subunit processor component|UTP25 small subunit processor component" SSU processome 1484 2005-06-03 2018-04-11 2022-03-04 2023-01-20 27042 ENSG00000117597 OTTHUMG00000036654 uc001hhr.3 BC022964 NM_014388 CCDS1493 Q68CQ4 16322560 MGI:2138080 RGD:1359148 619663 HGNC:28440 "ENST00000491415.7|NM_014388.7" -HGNC:12635 UTRN utrophin protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "DRP|DRP1" DMDL utrophin (homologous to dystrophin) Zinc fingers ZZ-type 91 1989-06-30 2006-12-13 2023-01-20 7402 ENSG00000152818 OTTHUMG00000015746 uc003qkt.4 AK023675 NM_001375323 "CCDS34547|CCDS94016" P46939 1426262 MGI:104631 RGD:3947 128240 HGNC:12635 "ENST00000367545.8|NM_007124.3" HGNC:12635 +HGNC:12635 UTRN utrophin protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "DRP|DRP1" DMDL utrophin (homologous to dystrophin) Zinc fingers ZZ-type 91 1989-06-30 2006-12-13 2023-01-20 7402 ENSG00000152818 OTTHUMG00000015746 uc003qkt.4 AK023675 NM_001375323 "CCDS94016|CCDS34547" P46939 1426262 MGI:104631 RGD:3947 128240 HGNC:12635 "ENST00000367545.8|NM_007124.3" HGNC:12635 HGNC:12636 UTS2 urotensin 2 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "UII|U-II|UCN2|PRO1068" prepro U-II "Receptor ligands|Neuropeptides" "542|1902" 2000-03-22 2023-01-20 10911 ENSG00000049247 OTTHUMG00000001218 uc001aos.4 AF104118 NM_006786 "CCDS90|CCDS91" O95399 "9861051|10499587" MGI:1346329 RGD:3930 604097 ligandId:2153 HGNC:12636 "ENST00000361696.10|NM_006786.4" HGNC:30894 UTS2B urotensin 2B protein-coding gene gene with protein product Approved 3q28 03q28 "URP|U2B" prepro-URP UTS2D urotensin 2 domain containing Receptor ligands 542 2005-02-25 2013-02-28 2013-02-28 2023-01-20 257313 ENSG00000188958 OTTHUMG00000156192 uc003fsu.4 AB116021 NM_198152 CCDS3300 Q765I0 14550283 MGI:2677064 RGD:727977 618134 ligandId:2156 HGNC:30894 "ENST00000340524.10|NM_198152.5" HGNC:4468 UTS2R urotensin 2 receptor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 GPR14 G protein-coupled receptor 14 Peptide receptors 220 1995-08-10 2004-07-13 2004-07-13 2023-01-20 2837 ENSG00000181408 OTTHUMG00000178835 uc010wvl.3 AF140631 NM_018949 CCDS11810 Q9UKP6 "8666380|10499587" MGI:2183450 RGD:621884 600896 objectId:365 HGNC:4468 "ENST00000313135.5|NM_018949.3" -HGNC:12638 UTY ubiquitously transcribed tetratricopeptide repeat containing, Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 "KDM6AL|KDM6C" "ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome|ubiquitously transcribed tetratricopeptide repeat gene, Y-linked" "Lysine demethylases|Tetratricopeptide repeat domain containing|Minor histocompatibility antigens" "485|769|870" 1998-08-05 2012-11-15 2023-01-20 7404 ENSG00000183878 OTTHUMG00000036319 uc004fsx.3 AF000994 NM_182660 "CCDS59185|CCDS14783|CCDS14784|CCDS76074|CCDS76073|CCDS76079|CCDS76076|CCDS14785|CCDS76075|CCDS76078|CCDS76077|CCDS59184|CCDS94713" O14607 "8944031|9499428" MGI:894810 RGD:1565481 400009 HGNC:12638 "ENST00000545955.6|NM_001258249.2" +HGNC:12638 UTY ubiquitously transcribed tetratricopeptide repeat containing, Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 "KDM6AL|KDM6C" "ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome|ubiquitously transcribed tetratricopeptide repeat gene, Y-linked" "Lysine demethylases|Tetratricopeptide repeat domain containing|Minor histocompatibility antigens" "485|769|870" 1998-08-05 2012-11-15 2023-01-20 7404 ENSG00000183878 OTTHUMG00000036319 uc004fsx.3 AF000994 NM_182660 "CCDS14783|CCDS76076|CCDS94713|CCDS76075|CCDS59184|CCDS76077|CCDS76079|CCDS14785|CCDS14784|CCDS76073|CCDS76078|CCDS59185|CCDS76074" O14607 "8944031|9499428" MGI:894810 RGD:1565481 400009 HGNC:12638 "ENST00000545955.6|NM_001258249.2" HGNC:12640 UVRAG UV radiation resistance associated protein-coding gene gene with protein product Approved 11q13.5 11q13.5 VPS38 beclin 1 binding protein UV radiation resistance associated gene "C2 domain containing|PIK3C3 complex subunits" "823|1596" 1997-01-10 2012-11-15 2023-01-20 7405 ENSG00000198382 OTTHUMG00000165319 uc001oxc.4 "X99050|AB012958" NM_003369 CCDS8241 Q9P2Y5 "9169138|16799551|18843052" MGI:1925860 RGD:1589754 602493 HGNC:12640 "ENST00000356136.8|NM_003369.4" HGNC:53952 UVRAG-DT UVRAG divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.5 11q13.5 LOC100506113 Divergent transcripts 1990 2018-06-20 2018-06-20 100506113 ENSG00000255507 OTTHUMG00000165318 NR_144531 29568943 HGNC:53952 HGNC:29304 UVSSA UV stimulated scaffold protein A protein-coding gene gene with protein product Approved 4p16.3 04p16.3 KIAA1530 KIAA1530 2007-12-12 2012-04-27 2015-11-13 2023-01-20 57654 ENSG00000163945 OTTHUMG00000160167 uc003gde.5 BC021930 NM_020894 CCDS33938 Q2YD98 "10819331|22466610|22466611|22466612" MGI:1918351 RGD:1306371 614632 302946 HGNC:29304 "ENST00000389851.10|NM_020894.4" HGNC:29304 HGNC:17729 UXS1 UDP-glucuronate decarboxylase 1 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 "FLJ23591|UGD|SDR6E1" short chain dehydrogenase/reductase family 6E, member 12 Short chain dehydrogenase/reductase superfamily 743 2002-05-01 2023-01-20 80146 ENSG00000115652 OTTHUMG00000153150 uc002tdm.4 AK027244 NM_025076.3 "CCDS46378|CCDS58720|CCDS58721" Q8NBZ7 19027726 MGI:1915133 RGD:628680 609749 4.1.1.35 HGNC:17729 "ENST00000283148.12|NM_001253875.2" -HGNC:12641 UXT ubiquitously expressed prefoldin like chaperone protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "ART-27|STAP1|SKP2" "androgen receptor trapped clone 27|SKP2-associated alpha PFD 1" "ubiquitously-expressed transcript|ubiquitously-expressed, prefoldin-like chaperone" Prefoldin subunits 956 1998-09-03 2015-11-10 2023-02-07 8409 ENSG00000126756 OTTHUMG00000021453 uc004din.4 AF092737 NM_153477 "CCDS14284|CCDS14285" Q9UBK9 "10087202|16221885" MGI:1277988 RGD:1359326 300234 471164 HGNC:12641 "ENST00000335890.3|NM_153477.3" +HGNC:12641 UXT ubiquitously expressed prefoldin like chaperone protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "ART-27|STAP1|SKP2" "androgen receptor trapped clone 27|SKP2-associated alpha PFD 1" "ubiquitously-expressed transcript|ubiquitously-expressed, prefoldin-like chaperone" Prefoldin subunits 956 1998-09-03 2015-11-10 2023-02-07 8409 ENSG00000126756 OTTHUMG00000021453 uc004din.4 AF092737 NM_153477 "CCDS14285|CCDS14284" Q9UBK9 "10087202|16221885" MGI:1277988 RGD:1359326 300234 471164 HGNC:12641 "ENST00000335890.3|NM_153477.3" HGNC:49239 UXT-AS1 UXT antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 Antisense RNAs 1987 2013-10-11 2013-10-11 100133957 ENSG00000267064 OTTHUMG00000180159 NR_028119 UXT-AS1 HGNC:49239 HGNC:25507 VAC14 VAC14 component of PIKFYVE complex protein-coding gene gene with protein product Approved 16q22.1-q22.2 16q22.1-q22.2 "FLJ10305|ArPIKfyve" TAX1BP2 "Tax1 (human T-cell leukemia virus type I) binding protein 2|Vac14 homolog (S. cerevisiae)|Vac14, PIKFYVE complex component" Armadillo like helical domain containing 1492 2005-02-09 2019-04-15 2023-01-20 55697 ENSG00000103043 OTTHUMG00000137583 uc002ezm.4 AK056433 NM_018052 CCDS10896 Q08AM6 "15542851|12719380" MGI:2157980 RGD:631410 604632 HGNC:25507 "ENST00000261776.10|NM_018052.5" HGNC:25507 HGNC:48605 VAC14-AS1 VAC14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 Antisense RNAs 1987 2013-05-24 2016-10-05 100130894 ENSG00000214353 OTTHUMG00000177027 "AK095020|DB487352" NR_034083 VAC14-AS1 HGNC:48605 -HGNC:12642 VAMP1 vesicle associated membrane protein 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 VAMP-1 SYB1 synaptobrevin 1 Vesicle associated membrane proteins 12 1990-03-14 2015-11-05 2023-01-20 6843 ENSG00000139190 OTTHUMG00000168269 uc001qok.4 NM_001297438 "CCDS31731|CCDS44809|CCDS73422|CCDS41740" P23763 1976629 MGI:1313276 RGD:3948 185880 314894 HGNC:12642 "ENST00000396308.4|NM_014231.5" HGNC:12642 +HGNC:12642 VAMP1 vesicle associated membrane protein 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 VAMP-1 SYB1 synaptobrevin 1 Vesicle associated membrane proteins 12 1990-03-14 2015-11-05 2023-01-20 6843 ENSG00000139190 OTTHUMG00000168269 uc001qok.4 NM_001297438 "CCDS31731|CCDS41740|CCDS44809|CCDS73422" P23763 1976629 MGI:1313276 RGD:3948 185880 314894 HGNC:12642 "ENST00000396308.4|NM_014231.5" HGNC:12642 HGNC:56361 VAMP1-AS1 VAMP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 Antisense RNAs 1987 2022-10-14 2022-10-14 127379716 ENSG00000276718 35985476 HGNC:12643 VAMP2 vesicle associated membrane protein 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 VAMP-2 SYB2 synaptobrevin 2 Vesicle associated membrane proteins 12 1990-03-14 2015-11-05 2023-01-20 6844 ENSG00000220205 OTTHUMG00000150254 uc010cnt.2 NM_001330125 "CCDS82064|CCDS32561" P63027 1976629 MGI:1313277 RGD:3949 185881 HGNC:12643 "ENST00000316509.11|NM_014232.3" HGNC:12643 HGNC:12644 VAMP3 vesicle associated membrane protein 3 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 CEB cellubrevin Vesicle associated membrane proteins 12 1999-07-22 2015-11-05 2023-01-20 9341 ENSG00000049245 OTTHUMG00000001225 uc001aol.3 BC003570 NM_004781 CCDS88 Q15836 9885218 MGI:1321389 RGD:61880 603657 HGNC:12644 "ENST00000054666.11|NM_004781.4" -HGNC:12645 VAMP4 vesicle associated membrane protein 4 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 Vesicle associated membrane proteins 12 1998-11-30 2015-11-05 2023-01-20 8674 ENSG00000117533 OTTHUMG00000034788 uc001ghx.3 AF044310 NM_003762 "CCDS1298|CCDS53430" O75379 9553086 MGI:1858730 RGD:1309753 606909 HGNC:12645 "ENST00000236192.12|NM_003762.5" +HGNC:12645 VAMP4 vesicle associated membrane protein 4 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 Vesicle associated membrane proteins 12 1998-11-30 2015-11-05 2023-01-20 8674 ENSG00000117533 OTTHUMG00000034788 uc001ghx.3 AF044310 NM_003762 "CCDS53430|CCDS1298" O75379 9553086 MGI:1858730 RGD:1309753 606909 HGNC:12645 "ENST00000236192.12|NM_003762.5" HGNC:12646 VAMP5 vesicle associated membrane protein 5 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 myobrevin Vesicle associated membrane proteins 12 1999-07-22 2015-11-05 2023-01-20 10791 ENSG00000168899 OTTHUMG00000130169 uc002spu.2 AF054825 NM_006634 CCDS1980 O95183 9725904 MGI:1858622 RGD:620419 607029 HGNC:12646 "ENST00000306384.5|NM_006634.3" -HGNC:11486 VAMP7 vesicle associated membrane protein 7 protein-coding gene gene with protein product Approved Xq28 and Yq12 Xq28 and Yq12 "VAMP-7|TI-VAMP" SYBL1 synaptobrevin-like 1 "Vesicle associated membrane proteins|Pseudoautosomal region 2" "12|716" 1996-06-21 2007-12-05 2015-11-05 2023-01-20 6845 ENSG00000124333 OTTHUMG00000022679 uc004fxj.4 AJ295938 NM_005638 "CCDS55548|CCDS14770|CCDS48199" P51809 "8640232|11440841" MGI:1096399 RGD:621558 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VAMP7 300053 410540 HGNC:11486 "ENST00000286448.12|NM_005638.6" +HGNC:11486 VAMP7 vesicle associated membrane protein 7 protein-coding gene gene with protein product Approved Xq28 and Yq12 Xq28 and Yq12 "VAMP-7|TI-VAMP" SYBL1 synaptobrevin-like 1 "Vesicle associated membrane proteins|Pseudoautosomal region 2" "12|716" 1996-06-21 2007-12-05 2015-11-05 2023-01-20 6845 ENSG00000124333 OTTHUMG00000022679 uc004fxj.4 AJ295938 NM_005638 "CCDS14770|CCDS48199|CCDS55548" P51809 "8640232|11440841" MGI:1096399 RGD:621558 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VAMP7 300053 410540 HGNC:11486 "ENST00000286448.12|NM_005638.6" HGNC:12647 VAMP8 vesicle associated membrane protein 8 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "EDB|VAMP-8" endobrevin Vesicle associated membrane proteins 12 1998-11-30 2015-11-05 2023-01-20 8673 ENSG00000118640 OTTHUMG00000130180 uc002spt.5 AF053233 NM_003761 CCDS1979 Q9BV40 "9878266|9614193" MGI:1336882 RGD:620421 603177 HGNC:12647 "ENST00000263864.10|NM_003761.5" HGNC:53817 VAMP9P vesicle associated membrane protein 9, pseudogene pseudogene pseudogene Approved 4q21.22 04q21.22 TCONS_00008138 Vesicle associated membrane proteins 12 2018-02-27 2018-04-23 105377307 ENSG00000284516 OTTHUMG00000191884 XR_938934 25210130 MGI:5595070 -HGNC:15512 VANGL1 VANGL planar cell polarity protein 1 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 STB2 "vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)|vang-like 1 (van gogh, Drosophila)" 2001-04-06 2013-03-05 2023-01-20 81839 ENSG00000173218 OTTHUMG00000011971 uc001efv.1 AB075805 NM_001172411 "CCDS53350|CCDS883" Q8TAA9 "11956595|12011995" MGI:2159344 RGD:1597324 610132 138557 HGNC:15512 "ENST00000355485.7|NM_138959.3" HGNC:15512 +HGNC:15512 VANGL1 VANGL planar cell polarity protein 1 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 STB2 "vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)|vang-like 1 (van gogh, Drosophila)" 2001-04-06 2013-03-05 2023-01-20 81839 ENSG00000173218 OTTHUMG00000011971 uc001efv.1 AB075805 NM_001172411 "CCDS883|CCDS53350" Q8TAA9 "11956595|12011995" MGI:2159344 RGD:1597324 610132 138557 HGNC:15512 "ENST00000355485.7|NM_138959.3" HGNC:15512 HGNC:15511 VANGL2 VANGL planar cell polarity protein 2 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "KIAA1215|LTAP|LPP1|STBM|STB1|STBM1|MGC119403|MGC119404" "vang, van gogh-like 2|loop-tail-associated protein|strabismus" "vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)|vang-like 2 (van gogh, Drosophila)" 2001-04-06 2013-03-05 2023-01-20 57216 ENSG00000162738 OTTHUMG00000033122 uc001fwc.3 AB033041 NM_020335 CCDS30915 Q9ULK5 11431695 MGI:2135272 RGD:1309442 600533 283988 HGNC:15511 "ENST00000368061.3|NM_020335.3" HGNC:15511 -HGNC:12648 VAPA VAMP associated protein A protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "hVAP-33|VAP-A" "VAMP (vesicle-associated membrane protein)-associated protein A (33kD)|VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa" 1999-03-19 2015-11-09 2023-01-20 9218 ENSG00000101558 OTTHUMG00000131603 uc002kok.4 NM_003574 "CCDS11847|CCDS11848" Q9P0L0 "9920726|9657962" MGI:1353561 RGD:61803 605703 HGNC:12648 "ENST00000400000.7|NM_194434.3" +HGNC:12648 VAPA VAMP associated protein A protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "hVAP-33|VAP-A" "VAMP (vesicle-associated membrane protein)-associated protein A (33kD)|VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa" 1999-03-19 2015-11-09 2023-01-20 9218 ENSG00000101558 OTTHUMG00000131603 uc002kok.4 NM_003574 "CCDS11848|CCDS11847" Q9P0L0 "9920726|9657962" MGI:1353561 RGD:61803 605703 HGNC:12648 "ENST00000400000.7|NM_194434.3" HGNC:12649 VAPB VAMP associated protein B and C protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "VAP-B|VAP-C|ALS8" VAMP (vesicle-associated membrane protein)-associated protein B and C 1999-03-19 2016-06-17 2023-01-20 9217 ENSG00000124164 OTTHUMG00000032840 uc002xza.4 AF086628 NM_001195677 "CCDS33498|CCDS56198" O95292 9920726 MGI:1928744 RGD:68326 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_656|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_656.xml" 605704 120453 HGNC:12649 "ENST00000475243.6|NM_004738.5" HGNC:12649 HGNC:12651 VARS1 valyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 valine tRNA ligase 1, cytoplasmic "VARS2|VARS" "valyl-tRNA synthetase 2|valyl-tRNA synthetase" Aminoacyl tRNA synthetases, Class I 131 1991-08-18 2019-07-15 2019-07-15 2023-01-20 7407 ENSG00000204394 OTTHUMG00000031286 uc011gfl.3 BC012808 NM_006295 CCDS34412 P26640 15779907 MGI:90675 RGD:3950 192150 6.1.1.9 HGNC:12651 "ENST00000375663.8|NM_006295.3" HGNC:12651 -HGNC:21642 VARS2 valyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "DKFZP434L1435|KIAA1885|G7a" valine tRNA ligase 2, mitochondrial "VARS2L|VARSL" "valyl-tRNA synthetase 2-like|valyl-tRNA synthetase like|valyl-tRNA synthetase 2, mitochondrial (putative)" Aminoacyl tRNA synthetases, Class I 131 2003-07-02 2007-02-23 2012-10-26 2023-03-15 57176 ENSG00000137411 OTTHUMG00000031263 uc003nsc.3 AB067472 NM_020442 "CCDS34387|CCDS54981" Q5ST30 "1898367|11572484|18400783" MGI:1916165 RGD:1303122 612802 432047 6.1.1.9 HGNC:21642 "ENST00000676266.1|NM_020442.6" HGNC:21642 +HGNC:21642 VARS2 valyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "DKFZP434L1435|KIAA1885|G7a" valine tRNA ligase 2, mitochondrial "VARS2L|VARSL" "valyl-tRNA synthetase 2-like|valyl-tRNA synthetase like|valyl-tRNA synthetase 2, mitochondrial (putative)" Aminoacyl tRNA synthetases, Class I 131 2003-07-02 2007-02-23 2012-10-26 2023-03-15 57176 ENSG00000137411 OTTHUMG00000031263 uc003nsc.3 AB067472 NM_020442 "CCDS54981|CCDS34387" Q5ST30 "1898367|11572484|18400783" MGI:1916165 RGD:1303122 612802 432047 6.1.1.9 HGNC:21642 "ENST00000676266.1|NM_020442.6" HGNC:21642 HGNC:19964 VASH1 vasohibin 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 KIAA1036 KIAA1036 2003-11-21 2005-08-16 2005-08-16 2023-01-20 22846 ENSG00000071246 OTTHUMG00000171493 uc001xst.3 AB028959 NM_014909 CCDS9851 Q7L8A9 MGI:2442543 RGD:1564082 609011 HGNC:19964 "ENST00000167106.9|NM_014909.5" HGNC:53215 VASH1-AS1 VASH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Antisense RNAs 1987 2017-03-21 2017-03-21 100506603 ENSG00000258301 OTTHUMG00000171623 NR_104184 HGNC:53215 HGNC:55446 VASH1-DT VASH1 divergent transcript non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Divergent transcripts 1990 2021-01-14 2021-01-14 120766139 ENSG00000258569 -HGNC:25723 VASH2 vasohibin 2 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 FLJ12505 2006-07-04 2023-01-20 79805 ENSG00000143494 OTTHUMG00000036925 uc001hjw.4 AK022567 NM_024749 "CCDS44316|CCDS73026|CCDS1511|CCDS44315" Q86V25 16528006 MGI:2444826 RGD:1564105 610471 HGNC:25723 "ENST00000517399.3|NM_001301056.2" +HGNC:25723 VASH2 vasohibin 2 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 FLJ12505 2006-07-04 2023-01-20 79805 ENSG00000143494 OTTHUMG00000036925 uc001hjw.4 AK022567 NM_024749 "CCDS73026|CCDS44315|CCDS1511|CCDS44316" Q86V25 16528006 MGI:2444826 RGD:1564105 610471 HGNC:25723 "ENST00000517399.3|NM_001301056.2" HGNC:18517 VASN vasorin protein-coding gene gene with protein product Approved 16p13.3 16p13.3 SLITL2 slit-like 2 (Drosophila) 2005-01-26 2006-03-30 2006-03-30 2023-01-20 114990 ENSG00000168140 OTTHUMG00000129469 uc002cwj.1 AY358299 NM_138440 CCDS10514 Q6EMK4 15247411 MGI:2177651 RGD:1598149 608843 HGNC:18517 "ENST00000304735.4|NM_138440.3" HGNC:12652 VASP vasodilator stimulated phosphoprotein protein-coding gene gene with protein product Approved 19q13.32 19q13.32 vasodilator-stimulated phosphoprotein ENAH/VASPs 946 1996-06-07 2017-06-13 2023-01-20 7408 ENSG00000125753 OTTHUMG00000182124 uc002pcg.4 NM_003370 CCDS33051 P50552 8812448 MGI:109268 RGD:1311542 601703 HGNC:12652 "ENST00000245932.11|NM_003370.4" HGNC:16919 VAT1 vesicle amine transport 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "VATI|FLJ20230" vesicle amine transport protein 1 homolog (T. californica) 2002-08-15 2013-08-23 2023-01-20 10493 ENSG00000108828 OTTHUMG00000180816 uc002icm.2 U18009 NM_006373 CCDS11451 Q99536 "7774926|8938427" MGI:1349450 RGD:1308943 604631 HGNC:16919 "ENST00000355653.8|NM_006373.4" HGNC:29315 VAT1L vesicle amine transport 1 like protein-coding gene gene with protein product Approved 16q23.1 16q23.1 KIAA1576 "vesicle amine transport protein 1 homolog (T. californica)-like|vesicle amine transport 1-like" 2008-09-15 2016-07-19 2023-01-20 57687 ENSG00000171724 OTTHUMG00000176845 uc002ffg.2 AB046796 NM_020927 CCDS32492 Q9HCJ6 10997877 MGI:2142534 RGD:1598315 620202 HGNC:29315 "ENST00000302536.3|NM_020927.3" -HGNC:12657 VAV1 vav guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 VAV "vav 1 oncogene|vav 1 guanine nucleotide exchange factor" "Pleckstrin homology domain containing|Dbl family Rho GEFs|SH2 domain containing" "682|722|741" 1991-03-04 2015-11-27 2023-01-20 7409 ENSG00000141968 OTTHUMG00000181965 uc010xjh.3 NM_001258206 "CCDS59341|CCDS12174|CCDS59342" P15498 9438848 MGI:98923 RGD:3951 164875 HGNC:12657 "ENST00000602142.6|NM_005428.4" -HGNC:12658 VAV2 vav guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "vav 2 oncogene|vav 2 guanine nucleotide exchange factor" "Pleckstrin homology domain containing|Dbl family Rho GEFs|SH2 domain containing" "682|722|741" 1994-07-15 2015-11-27 2023-01-20 7410 ENSG00000160293 OTTHUMG00000020882 uc004cer.4 NM_001134398 "CCDS48053|CCDS6979|CCDS94524" P52735 7762982 MGI:102718 RGD:1306285 600428 HGNC:12658 "ENST00000371850.8|NM_001134398.2" -HGNC:12659 VAV3 vav guanine nucleotide exchange factor 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "vav 3 oncogene|vav 3 guanine nucleotide exchange factor" "Pleckstrin homology domain containing|Dbl family Rho GEFs|SH2 domain containing|MicroRNA protein coding host genes" "682|722|741|1691" 1999-07-07 2015-11-27 2023-01-20 10451 ENSG00000134215 OTTHUMG00000010995 uc001dvk.2 AF118886 NM_006113 "CCDS44181|CCDS785" Q9UKW4 MGI:1888518 RGD:1565941 605541 HGNC:12659 "ENST00000370056.9|NM_006113.5" +HGNC:12657 VAV1 vav guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 VAV "vav 1 oncogene|vav 1 guanine nucleotide exchange factor" "Pleckstrin homology domain containing|Dbl family Rho GEFs|SH2 domain containing" "682|722|741" 1991-03-04 2015-11-27 2023-01-20 7409 ENSG00000141968 OTTHUMG00000181965 uc010xjh.3 NM_001258206 "CCDS59342|CCDS59341|CCDS12174" P15498 9438848 MGI:98923 RGD:3951 164875 HGNC:12657 "ENST00000602142.6|NM_005428.4" +HGNC:12658 VAV2 vav guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "vav 2 oncogene|vav 2 guanine nucleotide exchange factor" "Pleckstrin homology domain containing|Dbl family Rho GEFs|SH2 domain containing" "682|722|741" 1994-07-15 2015-11-27 2023-01-20 7410 ENSG00000160293 OTTHUMG00000020882 uc004cer.4 NM_001134398 "CCDS6979|CCDS48053|CCDS94524" P52735 7762982 MGI:102718 RGD:1306285 600428 HGNC:12658 "ENST00000371850.8|NM_001134398.2" +HGNC:12659 VAV3 vav guanine nucleotide exchange factor 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "vav 3 oncogene|vav 3 guanine nucleotide exchange factor" "Pleckstrin homology domain containing|Dbl family Rho GEFs|SH2 domain containing|MicroRNA protein coding host genes" "682|722|741|1691" 1999-07-07 2015-11-27 2023-01-20 10451 ENSG00000134215 OTTHUMG00000010995 uc001dvk.2 AF118886 NM_006113 "CCDS785|CCDS44181" Q9UKW4 MGI:1888518 RGD:1565941 605541 HGNC:12659 "ENST00000370056.9|NM_006113.5" HGNC:40608 VAV3-AS1 VAV3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 VAV3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-24 2012-08-15 2021-07-23 100873946 ENSG00000230489 OTTHUMG00000010994 uc031pnj.1 "AA425131|BG193383" NR_046653 VAV3-AS1 HGNC:40608 HGNC:12660 VAX1 ventral anterior homeobox 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 NKL subclass homeoboxes and pseudogenes 519 1999-08-27 2023-01-20 11023 ENSG00000148704 OTTHUMG00000019117 uc009xyx.4 AK127095 NM_001112704 "CCDS7597|CCDS44483" Q5SQQ9 "9636075|10485894" MGI:1277163 RGD:621132 604294 8523 471314 HGNC:12660 "ENST00000369206.6|NM_001112704.2" HGNC:12660 HGNC:12661 VAX2 ventral anterior homeobox 2 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 DRES93 NKL subclass homeoboxes and pseudogenes 519 1999-11-16 2023-01-20 25806 ENSG00000116035 OTTHUMG00000129714 uc002shh.4 Y17791 NM_012476 CCDS1911 Q9UIW0 10485894 MGI:1346018 RGD:621133 604295 8524 HGNC:12661 "ENST00000234392.3|NM_012476.3" -HGNC:12662 VBP1 VHL binding protein 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "PFD3|PFDN3" prefoldin 3 von Hippel-Lindau binding protein 1 Prefoldin subunits 956 1997-07-25 2016-05-20 2023-01-20 7411 ENSG00000155959 OTTHUMG00000022666 uc004fnc.4 U56833 NM_001303543 "CCDS78525|CCDS14765" P61758 "8674032|9339366" MGI:1333804 RGD:1590535 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VBP1 300133 HGNC:12662 "ENST00000286428.7|NM_003372.7" -HGNC:12663 VCAM1 vascular cell adhesion molecule 1 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 CD106 "CD molecules|Receptor ligands|C2-set domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "471|542|592|593|1410" 1991-07-10 2023-01-20 7412 ENSG00000162692 OTTHUMG00000010982 uc001dti.5 M60335 NM_001078 "CCDS773|CCDS55617|CCDS774" P19320 MGI:98926 RGD:3952 192225 ligandId:6758 CD106 HGNC:12663 "ENST00000294728.7|NM_001078.4" -HGNC:2464 VCAN versican protein-coding gene gene with protein product Approved 5q14.2-q14.3 05q14.2-q14.3 PG-M versican proteoglycan CSPG2 chondroitin sulfate proteoglycan 2 "Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing" "574|590|1179|1298" 1991-07-18 2007-02-15 2007-02-15 2023-01-20 1462 ENSG00000038427 OTTHUMG00000131321 uc003kii.4 X15998 NM_004385 "CCDS4060|CCDS47242|CCDS54875|CCDS54876" P13611 "1478664|21063030" MGI:102889 RGD:619940 118661 120457 HGNC:2464 "ENST00000265077.8|NM_004385.5" HGNC:2464 +HGNC:12662 VBP1 VHL binding protein 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "PFD3|PFDN3" prefoldin 3 von Hippel-Lindau binding protein 1 Prefoldin subunits 956 1997-07-25 2016-05-20 2023-01-20 7411 ENSG00000155959 OTTHUMG00000022666 uc004fnc.4 U56833 NM_001303543 "CCDS14765|CCDS78525" P61758 "8674032|9339366" MGI:1333804 RGD:1590535 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VBP1 300133 HGNC:12662 "ENST00000286428.7|NM_003372.7" +HGNC:12663 VCAM1 vascular cell adhesion molecule 1 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 CD106 "CD molecules|Receptor ligands|C2-set domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "471|542|592|593|1410" 1991-07-10 2023-01-20 7412 ENSG00000162692 OTTHUMG00000010982 uc001dti.5 M60335 NM_001078 "CCDS55617|CCDS773|CCDS774" P19320 MGI:98926 RGD:3952 192225 ligandId:6758 CD106 HGNC:12663 "ENST00000294728.7|NM_001078.4" +HGNC:2464 VCAN versican protein-coding gene gene with protein product Approved 5q14.2-q14.3 05q14.2-q14.3 PG-M versican proteoglycan CSPG2 chondroitin sulfate proteoglycan 2 "Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing" "574|590|1179|1298" 1991-07-18 2007-02-15 2007-02-15 2023-01-20 1462 ENSG00000038427 OTTHUMG00000131321 uc003kii.4 X15998 NM_004385 "CCDS54876|CCDS4060|CCDS54875|CCDS47242" P13611 "1478664|21063030" MGI:102889 RGD:619940 118661 120457 HGNC:2464 "ENST00000265077.8|NM_004385.5" HGNC:2464 HGNC:40163 VCAN-AS1 VCAN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 VCAN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-23 2012-08-15 2020-04-20 105379054 ENSG00000249835 OTTHUMG00000162571 uc063fbx.1 NR_136215 HGNC:40163 HGNC:12665 VCL vinculin protein-coding gene gene with protein product Approved 10q22.2 10q22.2 metavinculin 1990-09-10 2023-01-20 7414 ENSG00000035403 OTTHUMG00000018498 uc001jwd.4 M33308 "NM_003373|NM_014000" "CCDS7340|CCDS7341" P18206 1339348 MGI:98927 RGD:1311217 LRG_383|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_383.xml 193065 159087 HGNC:12665 "ENST00000211998.10|NM_014000.3" HGNC:12665 HGNC:12666 VCP valosin containing protein protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "IBMPFD|p97|CDC48|TERA" transitional endoplasmic reticulum ATPase valosin-containing protein AAA ATPases 413 1996-08-22 2011-01-25 2023-01-20 7415 ENSG00000165280 OTTHUMG00000019855 uc003zvy.3 AC004472 NM_007126 "CCDS6573|CCDS94403" P55072 "8595912|7553851|23652004" MGI:99919 RGD:621595 LRG_657|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_657.xml 601023 120461 HGNC:12666 "ENST00000358901.11|NM_007126.5" HGNC:12666 @@ -41846,16 +41848,16 @@ HGNC:37479 VDAC1P10 voltage dependent anion channel 1 pseudogene 10 pseudogene p HGNC:37480 VDAC1P11 voltage dependent anion channel 1 pseudogene 11 pseudogene pseudogene Approved 9q22.32 09q22.32 2009-10-23 2016-01-14 2016-01-14 100310841 ENSG00000237679 OTTHUMG00000020261 NG_013294 PGOHUM00000236268 HGNC:37480 HGNC:39680 VDAC1P12 voltage dependent anion channel 1 pseudogene 12 pseudogene pseudogene Approved 13q13.2 13q13.2 2011-03-22 2016-01-14 2016-01-14 100874289 ENSG00000227254 OTTHUMG00000016717 NG_032346 PGOHUM00000248358 HGNC:39680 HGNC:50515 VDAC1P13 voltage dependent anion channel 1 pseudogene 13 pseudogene pseudogene Approved 2p21 02p21 2014-05-16 2016-01-14 2016-01-14 100420568 ENSG00000232526 OTTHUMG00000152314 NG_023558 PGOHUM00000240022 HGNC:50515 -HGNC:12672 VDAC2 voltage dependent anion channel 2 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 Voltage dependent anion channels 306 1993-11-02 2016-01-14 2023-01-20 7417 ENSG00000165637 OTTHUMG00000018517 uc021ptp.3 BC000165 NM_003375 "CCDS7348|CCDS53544" P45880 "7517385|10049775" MGI:106915 RGD:621576 193245 HGNC:12672 "ENST00000332211.11|NM_001391963.1" +HGNC:12672 VDAC2 voltage dependent anion channel 2 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 Voltage dependent anion channels 306 1993-11-02 2016-01-14 2023-01-20 7417 ENSG00000165637 OTTHUMG00000018517 uc021ptp.3 BC000165 NM_003375 "CCDS53544|CCDS7348" P45880 "7517385|10049775" MGI:106915 RGD:621576 193245 HGNC:12672 "ENST00000332211.11|NM_001391963.1" HGNC:12673 VDAC2P1 VDAC2 pseudogene 1 pseudogene pseudogene Approved 21q21.1 21q21.1 VDAC2P "voltage-dependent anion channel 2 pseudogene|voltage dependent anion channel 2 pseudogene 1" 2000-05-23 2009-10-23 2020-01-08 2020-01-08 54015 ENSG00000214976 OTTHUMG00000074376 NG_000899 PGOHUM00000297222 HGNC:12673 HGNC:32693 VDAC2P2 VDAC2 pseudogene 2 pseudogene pseudogene Approved 12p13.31 12p13.31 voltage dependent anion channel 2 pseudogene 2 2006-04-11 2020-01-08 2020-04-20 643996 ENSG00000255776 OTTHUMG00000168287 NG_021271 PGOHUM00000291534 HGNC:32693 HGNC:51931 VDAC2P3 VDAC2 pseudogene 3 pseudogene pseudogene Approved 1p12 01p12 voltage dependent anion channel 2 pseudogene 3 2015-10-06 2020-01-08 2020-01-08 401959 ENSG00000213262 OTTHUMG00000013704 NG_021270 PGOHUM00000295805 HGNC:51931 HGNC:51932 VDAC2P4 VDAC2 pseudogene 4 pseudogene pseudogene Approved 2q21.3 02q21.3 voltage dependent anion channel 2 pseudogene 4 2015-10-06 2020-01-08 2020-01-08 100420574 ENSG00000234682 OTTHUMG00000153732 NG_023731 PGOHUM00000298736 HGNC:51932 HGNC:54753 VDAC2P5 VDAC2 pseudogene 5 pseudogene pseudogene Approved 2p14 02p14 2020-01-08 2020-01-08 729317 ENSG00000172974 NG_016635 -HGNC:12674 VDAC3 voltage dependent anion channel 3 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 HD-VDAC3 Voltage dependent anion channels 306 1999-05-28 2016-01-14 2023-01-20 7419 ENSG00000078668 OTTHUMG00000164168 uc003xpc.4 AF038962 NM_001135694 "CCDS6131|CCDS47850" Q9Y277 "9653160|9781040" MGI:106922 RGD:621577 610029 HGNC:12674 "ENST00000022615.9|NM_005662.7" +HGNC:12674 VDAC3 voltage dependent anion channel 3 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 HD-VDAC3 Voltage dependent anion channels 306 1999-05-28 2016-01-14 2023-01-20 7419 ENSG00000078668 OTTHUMG00000164168 uc003xpc.4 AF038962 NM_001135694 "CCDS47850|CCDS6131" Q9Y277 "9653160|9781040" MGI:106922 RGD:621577 610029 HGNC:12674 "ENST00000022615.9|NM_005662.7" HGNC:20722 VDAC3P1 voltage dependent anion channel 3 pseudogene 1 pseudogene pseudogene Approved 14q32.2 14q32.2 VDAC3P voltage-dependent anion channel 3 pseudogene 2003-03-24 2009-10-23 2016-01-14 2020-04-20 341965 ENSG00000271198 OTTHUMG00000184603 NG_022864 PGOHUM00000248265 HGNC:20722 -HGNC:12679 VDR vitamin D receptor protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "NR1I1|PPP1R163" "protein phosphatase 1, regulatory subunit 163|1,25- dihydroxyvitamin D3 receptor" vitamin D (1,25- dihydroxyvitamin D3) receptor "Protein phosphatase 1 regulatory subunits|Nuclear receptor subfamily 1 group I" "694|2084" 1989-06-30 2017-05-04 2023-01-20 7421 ENSG00000111424 OTTHUMG00000169890 uc058ndj.1 J03258 NM_000376 "CCDS8757|CCDS91689|CCDS55820" P11473 1662663 MGI:103076 RGD:3959 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 601769 120464 objectId:605 HGNC:12679 "ENST00000549336.6|NM_000376.3" HGNC:12679 -HGNC:12680 VEGFA vascular endothelial growth factor A protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "VEGF-A|VPF" VEGF vascular endothelial growth factor VEGF family 1267 1994-01-10 2006-10-31 2006-10-31 2023-01-20 7422 ENSG00000112715 OTTHUMG00000014745 uc063oun.1 AB021221 NM_001025366 "CCDS34458|CCDS47433|CCDS47432|CCDS47434|CCDS4907|CCDS55010|CCDS55007|CCDS55011|CCDS34457|CCDS55008|CCDS55009|CCDS55012|CCDS55013|CCDS69125|CCDS55014|CCDS55015|CCDS47435" P15692 8786112 MGI:103178 RGD:619991 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 192240 471316 ligandId:5085 HGNC:12680 "ENST00000672860.3|NM_003376.6" +HGNC:12679 VDR vitamin D receptor protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "NR1I1|PPP1R163" "protein phosphatase 1, regulatory subunit 163|1,25- dihydroxyvitamin D3 receptor" vitamin D (1,25- dihydroxyvitamin D3) receptor "Protein phosphatase 1 regulatory subunits|Nuclear receptor subfamily 1 group I" "694|2084" 1989-06-30 2017-05-04 2023-01-20 7421 ENSG00000111424 OTTHUMG00000169890 uc058ndj.1 J03258 NM_000376 "CCDS55820|CCDS91689|CCDS8757" P11473 1662663 MGI:103076 RGD:3959 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 601769 120464 objectId:605 HGNC:12679 "ENST00000549336.6|NM_000376.3" HGNC:12679 +HGNC:12680 VEGFA vascular endothelial growth factor A protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "VEGF-A|VPF" VEGF vascular endothelial growth factor VEGF family 1267 1994-01-10 2006-10-31 2006-10-31 2023-01-20 7422 ENSG00000112715 OTTHUMG00000014745 uc063oun.1 AB021221 NM_001025366 "CCDS34458|CCDS47433|CCDS55015|CCDS47432|CCDS55014|CCDS69125|CCDS47434|CCDS47435|CCDS4907|CCDS55013|CCDS55008|CCDS55009|CCDS55007|CCDS55010|CCDS55011|CCDS55012|CCDS34457" P15692 8786112 MGI:103178 RGD:619991 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 192240 471316 ligandId:5085 HGNC:12680 "ENST00000672860.3|NM_003376.6" HGNC:12681 VEGFB vascular endothelial growth factor B protein-coding gene gene with protein product Approved 11q13.1 11q13.1 VEGFL VRF VEGF family 1267 1996-10-26 2023-01-20 7423 ENSG00000173511 OTTHUMG00000167813 uc001nyx.4 BC008818 NM_003377 "CCDS58144|CCDS8062" P49765 "8637916|8919691" MGI:106199 RGD:619799 601398 ligandId:5086 HGNC:12681 "ENST00000309422.7|NM_003377.5" HGNC:12682 VEGFC vascular endothelial growth factor C protein-coding gene gene with protein product Approved 4q34.3 04q34.3 "VRP|VEGF-C" vascular endothelial growth factor-related protein VEGF family 1267 1996-10-26 2023-01-20 7424 ENSG00000150630 OTTHUMG00000160734 uc032ufc.2 BC035212 NM_005429 CCDS43285 P49767 8617204 MGI:109124 RGD:619800 601528 376917 ligandId:5087 HGNC:12682 "ENST00000618562.2|NM_005429.5" HGNC:12682 HGNC:3708 VEGFD vascular endothelial growth factor D protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 VEGF-D FIGF c-fos induced growth factor (vascular endothelial growth factor D) VEGF family 1267 1997-03-27 2016-05-23 2016-05-23 2023-01-20 2277 ENSG00000165197 OTTHUMG00000021175 uc004cwt.3 AJ000185 NM_004469 CCDS14166 O43915 9479493 MGI:108037 RGD:620695 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FIGF 300091 ligandId:5088 HGNC:3708 "ENST00000297904.4|NM_004469.5" @@ -41868,7 +41870,7 @@ HGNC:32214 VENTXP5 VENT homeobox pseudogene 5 pseudogene pseudogene Approved 8p1 HGNC:32216 VENTXP6 VENT homeobox pseudogene 6 pseudogene pseudogene Approved 8q21.11 08q21.11 VENT homeobox (Xenopus laevis) pseudogene 6 NKL subclass homeoboxes and pseudogenes 519 2005-09-27 2011-06-01 2011-06-20 552879 ENSG00000254105 OTTHUMG00000164572 NG_005090 8407 PGOHUM00000249712 HGNC:32216 HGNC:13638 VENTXP7 VENT homeobox pseudogene 7 pseudogene pseudogene Approved 3p24.3 03p24.3 HPX42 VENTX1 "VENT-like homeobox 1|VENT homeobox (Xenopus laevis) pseudogene 7" NKL subclass homeoboxes and pseudogenes 519 2004-11-26 2005-09-27 2011-06-01 2014-11-18 391518 ENSG00000236380 OTTHUMG00000155442 X74864 NR_002311 11549314 8408 PGOHUM00000237957 HGNC:13638 HGNC:54910 VENTXP8 VENTX pseudogene 8 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-04-24 100421110 ENSG00000230265 NG_026809 -HGNC:25735 VEPH1 ventricular zone expressed PH domain containing 1 protein-coding gene gene with protein product Approved 3q25.31-q25.32 03q25.31-q25.32 "FLJ12604|KIAA1692" ventricular zone expressed PH domain homolog 1 (zebrafish) "Pleckstrin homology domain containing|Armadillo like helical domain containing" "682|1492" 2005-01-24 2015-11-11 2023-01-20 79674 ENSG00000197415 OTTHUMG00000158711 uc003fbk.3 AL713656 NM_024621 "CCDS3179|CCDS54661|CCDS54663|CCDS54662" Q14D04 "11214970|15388229" MGI:1920039 RGD:1308217 609594 HGNC:25735 "ENST00000362010.7|NM_001167912.2" +HGNC:25735 VEPH1 ventricular zone expressed PH domain containing 1 protein-coding gene gene with protein product Approved 3q25.31-q25.32 03q25.31-q25.32 "FLJ12604|KIAA1692" ventricular zone expressed PH domain homolog 1 (zebrafish) "Pleckstrin homology domain containing|Armadillo like helical domain containing" "682|1492" 2005-01-24 2015-11-11 2023-01-20 79674 ENSG00000197415 OTTHUMG00000158711 uc003fbk.3 AL713656 NM_024621 "CCDS54663|CCDS54662|CCDS3179|CCDS54661" Q14D04 "11214970|15388229" MGI:1920039 RGD:1308217 609594 HGNC:25735 "ENST00000362010.7|NM_001167912.2" HGNC:12949 VEZF1 vascular endothelial zinc finger 1 protein-coding gene gene with protein product Approved 17q22 17q22 DB1 ZNF161 zinc finger protein 161 Zinc fingers C2H2-type 28 1994-09-28 2006-08-16 2006-08-16 2023-01-20 7716 ENSG00000136451 OTTHUMG00000178777 uc002ivf.2 D28118 NM_001330393 "CCDS82169|CCDS32687" Q14119 8035792 MGI:1313291 RGD:1308058 606747 HGNC:12949 "ENST00000581208.2|NM_007146.3" HGNC:12949 HGNC:32320 VEZF1P1 vascular endothelial zinc finger 1 pseudogene 1 pseudogene pseudogene Approved 3q29 03q29 "ZNF161L1|VEZF1L1" "zinc finger protein 161-like 1|vascular endothelial zinc finger 1-like 1" 2005-10-04 2011-07-07 2011-07-07 2020-04-20 647319 ENSG00000236229 OTTHUMG00000156103 NG_006550 PGOHUM00000237903 HGNC:32320 HGNC:18258 VEZT vezatin, adherens junctions transmembrane protein protein-coding gene gene with protein product Approved 12q22 12q22 DKFZP761C241 2006-01-27 2023-01-20 55591 ENSG00000028203 OTTHUMG00000170182 uc001tdz.2 AF216644 NM_017599 CCDS44954 Q9HBM0 "11080149|16199027|21156161" MGI:2143698 RGD:1359117 619749 HGNC:18258 "ENST00000436874.6|NM_017599.4" @@ -41877,7 +41879,7 @@ HGNC:12684 VGF VGF nerve growth factor inducible protein-coding gene gene with p HGNC:20985 VGLL1 vestigial like family member 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "TONDU|TDU" "vestigial like 1 (Drosophila)|vestigial-like family member 1" "Vestigial like family|MicroRNA protein coding host genes" "367|1691" 2003-04-30 2015-11-23 2023-01-20 51442 ENSG00000102243 OTTHUMG00000022509 uc004ezy.3 AF137387 NM_016267 CCDS14658 Q99990 10518497 MGI:2655768 RGD:1564038 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VGLL1 300583 HGNC:20985 "ENST00000370634.8|NM_016267.4" HGNC:20232 VGLL2 vestigial like family member 2 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "vestigial like 2 (Drosophila)|vestigial-like family member 2" Vestigial like family 367 2003-04-30 2015-11-23 2023-01-20 245806 ENSG00000170162 OTTHUMG00000015451 uc003pxn.4 AY056583 NM_153453 "CCDS5115|CCDS5114" Q8N8G2 12376544 MGI:2447460 RGD:1311903 609979 HGNC:20232 "ENST00000326274.6|NM_182645.3" HGNC:24327 VGLL3 vestigial like family member 3 protein-coding gene gene with protein product Approved 3p12.1 03p12.1 VGL-3 "vestigial like 3 (Drosophila)|vestigial-like family member 3" Vestigial like family 367 2005-12-30 2015-11-23 2023-01-20 389136 ENSG00000206538 OTTHUMG00000158984 uc003dqn.4 AF099505 NM_016206 "CCDS82807|CCDS43110" A8MV65 12376544 MGI:1920819 RGD:1560030 609980 HGNC:24327 "ENST00000398399.7|NM_016206.4" -HGNC:28966 VGLL4 vestigial like family member 4 protein-coding gene gene with protein product Approved 3p25.3-p25.2 03p25.3-p25.2 KIAA0121 "vestigial like 4 (Drosophila)|vestigial-like family member 4" Vestigial like family 367 2004-06-03 2015-11-23 2023-01-20 9686 ENSG00000144560 OTTHUMG00000129739 uc010hdx.3 D50911 NM_014667 "CCDS68343|CCDS68342|CCDS46754|CCDS2606|CCDS46755|CCDS46756" Q14135 "8590280|15140898" MGI:2652840 RGD:1311653 618692 HGNC:28966 "ENST00000430365.7|NM_001128219.3" +HGNC:28966 VGLL4 vestigial like family member 4 protein-coding gene gene with protein product Approved 3p25.3-p25.2 03p25.3-p25.2 KIAA0121 "vestigial like 4 (Drosophila)|vestigial-like family member 4" Vestigial like family 367 2004-06-03 2015-11-23 2023-01-20 9686 ENSG00000144560 OTTHUMG00000129739 uc010hdx.3 D50911 NM_014667 "CCDS2606|CCDS68342|CCDS46755|CCDS46754|CCDS46756|CCDS68343" Q14135 "8590280|15140898" MGI:2652840 RGD:1311653 618692 HGNC:28966 "ENST00000430365.7|NM_001128219.3" HGNC:12687 VHL von Hippel-Lindau tumor suppressor protein-coding gene gene with protein product Approved 3p25.3 03p25.3 VHL1 "von Hippel-Lindau syndrome|von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase" 1986-01-01 2016-03-02 2023-01-20 7428 ENSG00000134086 OTTHUMG00000128668 uc003bvc.4 L15409 NM_000551 "CCDS2598|CCDS93209|CCDS2597" P40337 9671762 MGI:103223 RGD:3960 "UMD Locus Specific Databases|http://www.umd.be/|LRG_322|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_322.xml" VHL 608537 120467 objectId:3204 HGNC:12687 "ENST00000256474.3|NM_000551.4" HGNC:12687 HGNC:30666 VHLL VHL like protein-coding gene gene with protein product Approved 1q22 01q22 VLP VHLP "VHL pseudogene|von Hippel-Lindau tumor suppressor like" 2004-09-02 2017-02-28 2023-03-15 391104 ENSG00000189030 OTTHUMG00000024058 uc001fok.4 NM_001004319 Q6RSH7 14757845 MGI:103223 619650 471318 HGNC:30666 "ENST00000339922.5|NM_001004319.3" HGNC:12690 VIL1 villin 1 protein-coding gene gene with protein product Approved 2q35 02q35 D2S1471 VIL Gelsolin/villins 950 2001-06-22 2023-01-20 7429 ENSG00000127831 OTTHUMG00000133112 uc002via.4 X12901 NM_007127 CCDS2417 P09327 2846586 MGI:98930 RGD:1307048 193040 HGNC:12690 "ENST00000248444.10|NM_007127.3" @@ -41887,23 +41889,23 @@ HGNC:44879 VIM-AS1 VIM antisense RNA 1 non-coding RNA RNA, long non-coding Appro HGNC:43891 VIM2P vimentin 2, pseudogene pseudogene pseudogene Approved 6q22.32 06q22.32 "lncRNA-CIR|RP11-162L10.1|VIM2|CIR" long non-coding RNA, cartilage injury-related VIMP1 "vimentin pseudogene 1|vimentin 2, pseudogene (functional)" 2012-04-23 2014-06-27 2016-01-29 2023-02-01 100130535 ENSG00000220548 OTTHUMG00000015519 NG_022326 "24757148|30292414" PGOHUM00000243352 lncrna-cir HGNC:43891 HGNC:53736 VINAC1P vinculin/alpha-catenin family member 1, pseudogene pseudogene pseudogene Approved 2q14.1 02q14.1 2018-11-23 2018-11-23 114515517 ENSG00000283698 OTTHUMG00000191782 MGI:3649276 RGD:1561442 HGNC:12693 VIP vasoactive intestinal peptide protein-coding gene gene with protein product Approved 6q25.2 06q25.2 prepro-VIP Neuropeptides 1902 2001-06-22 2023-01-20 7432 ENSG00000146469 OTTHUMG00000015851 uc003qpe.6 NM_003381 "CCDS5241|CCDS5240" P01282 MGI:98933 RGD:621647 192320 ligandId:3706 HGNC:12693 "ENST00000367244.8|NM_003381.4" -HGNC:20347 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "VIPAR|VPS16B|SPE-39|SPE39|hSPE-39" "VPS33B interacting protein, apical-basolateral polarity regulator|Spermatogenesis-defective protein 39 homolog" C14orf133 chromosome 14 open reading frame 133 2003-01-28 2012-07-24 2012-07-24 2023-01-20 63894 ENSG00000151445 OTTHUMG00000171538 uc001xtu.3 AK022925 NM_022067 "CCDS53905|CCDS9862" Q9H9C1 "20190753|19109425|22753090|22677173|23002115|23918659" MGI:2144805 RGD:1589291 LRG_1019|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1019.xml 613401 227089 HGNC:20347 "ENST00000557658.6|NM_001193315.2" HGNC:20347 -HGNC:12694 VIPR1 vasoactive intestinal peptide receptor 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "VPAC1|RDC1|HVR1|VPAC1R" VIP and PACAP receptor 1 Vasoactive intestinal peptide family receptors 264 1991-09-13 2023-01-20 7433 ENSG00000114812 OTTHUMG00000131792 uc003clf.3 AH005329 NM_004624 "CCDS58829|CCDS58827|CCDS2698|CCDS58828" P32241 7708752 MGI:109272 RGD:3961 192321 objectId:371 HGNC:12694 "ENST00000325123.5|NM_004624.4" +HGNC:20347 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "VIPAR|VPS16B|SPE-39|SPE39|hSPE-39" "VPS33B interacting protein, apical-basolateral polarity regulator|Spermatogenesis-defective protein 39 homolog" C14orf133 chromosome 14 open reading frame 133 2003-01-28 2012-07-24 2012-07-24 2023-01-20 63894 ENSG00000151445 OTTHUMG00000171538 uc001xtu.3 AK022925 NM_022067 "CCDS9862|CCDS53905" Q9H9C1 "20190753|19109425|22753090|22677173|23002115|23918659" MGI:2144805 RGD:1589291 LRG_1019|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1019.xml 613401 227089 HGNC:20347 "ENST00000557658.6|NM_001193315.2" HGNC:20347 +HGNC:12694 VIPR1 vasoactive intestinal peptide receptor 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "VPAC1|RDC1|HVR1|VPAC1R" VIP and PACAP receptor 1 Vasoactive intestinal peptide family receptors 264 1991-09-13 2023-01-20 7433 ENSG00000114812 OTTHUMG00000131792 uc003clf.3 AH005329 NM_004624 "CCDS58829|CCDS2698|CCDS58827|CCDS58828" P32241 7708752 MGI:109272 RGD:3961 192321 objectId:371 HGNC:12694 "ENST00000325123.5|NM_004624.4" HGNC:40610 VIPR1-AS1 VIPR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 VIPR1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874007 ENSG00000232354 OTTHUMG00000156181 uc062iol.1 NR_046654 VIPR1-AS1 HGNC:40610 -HGNC:12695 VIPR2 vasoactive intestinal peptide receptor 2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "VPAC2|VPAC2R" VIP and PACAP receptor 2 Vasoactive intestinal peptide family receptors 264 1994-04-28 2023-01-20 7434 ENSG00000106018 OTTHUMG00000151446 uc003woh.3 "CA449700|X95097" NM_003382 "CCDS5950|CCDS78295" P41587 7811244 MGI:107166 RGD:3962 601970 objectId:372 HGNC:12695 "ENST00000262178.7|NM_003382.5" +HGNC:12695 VIPR2 vasoactive intestinal peptide receptor 2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "VPAC2|VPAC2R" VIP and PACAP receptor 2 Vasoactive intestinal peptide family receptors 264 1994-04-28 2023-01-20 7434 ENSG00000106018 OTTHUMG00000151446 uc003woh.3 "CA449700|X95097" NM_003382 "CCDS78295|CCDS5950" P41587 7811244 MGI:107166 RGD:3962 601970 objectId:372 HGNC:12695 "ENST00000262178.7|NM_003382.5" HGNC:24500 VIRMA vir like m6A methyltransferase associated protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "DKFZP434I116|fSAP121" "functional spliceosome-associated protein 121|virilizer homolog" KIAA1429 KIAA1429 "m6A methyltransferase complex|WTAP complex|Armadillo like helical domain containing" "1419|1420|1492" 2005-09-01 2017-05-18 2017-05-18 2023-01-20 25962 ENSG00000164944 OTTHUMG00000164426 uc003ygo.3 AB037850 NM_015496 "CCDS47894|CCDS34923" Q69YN4 "10718198|24100041|24981863" MGI:1913435 RGD:1559904 616447 HGNC:24500 "ENST00000297591.10|NM_015496.5" HGNC:55531 VIRMA-DT VIRMA divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 Divergent transcripts 1990 2021-03-22 2021-03-22 101926977 ENSG00000253704 NR_183266 HGNC:12696 VIS1 viral integration site 1 other virus integration site Approved 2q14-q21 02q14-q21 "HIS1|HIS-1" 1992-11-25 2013-12-11 7435 uc021vqo.1 U56440 1682866 164755 -HGNC:12697 VIT vitrin protein-coding gene gene with protein product Approved 2p22.2 02p22.2 1998-04-02 2023-01-20 5212 ENSG00000205221 OTTHUMG00000152149 uc002rpl.4 AF063833 NM_001177969 "CCDS33180|CCDS54350|CCDS54348|CCDS54347|CCDS54349" Q6UXI7 MGI:1921449 RGD:1564128 617693 HGNC:12697 "ENST00000379242.8|NM_053276.4" +HGNC:12697 VIT vitrin protein-coding gene gene with protein product Approved 2p22.2 02p22.2 1998-04-02 2023-01-20 5212 ENSG00000205221 OTTHUMG00000152149 uc002rpl.4 AF063833 NM_001177969 "CCDS54348|CCDS54347|CCDS33180|CCDS54350|CCDS54349" Q6UXI7 MGI:1921449 RGD:1564128 617693 HGNC:12697 "ENST00000379242.8|NM_053276.4" HGNC:23663 VKORC1 vitamin K epoxide reductase complex subunit 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 VKCFD2 vitamin K dependent clotting factors deficiency 2 2004-02-04 2015-11-09 2023-01-20 79001 ENSG00000167397 OTTHUMG00000047408 uc002eas.4 NM_024006 "CCDS10704|CCDS10703" Q9BQB6 14765194 MGI:106442 RGD:1303107 LRG_582|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_582.xml 608547 159472 objectId:2645 HGNC:23663 "ENST00000394975.3|NM_024006.6" HGNC:23663 -HGNC:21492 VKORC1L1 vitamin K epoxide reductase complex subunit 1 like 1 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 2004-02-04 2015-11-09 2023-01-20 154807 ENSG00000196715 OTTHUMG00000129449 uc003tum.3 NM_173517 "CCDS5529|CCDS64663" Q8N0U8 23928358 MGI:1916818 RGD:1303249 608838 HGNC:21492 "ENST00000360768.5|NM_173517.6" +HGNC:21492 VKORC1L1 vitamin K epoxide reductase complex subunit 1 like 1 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 2004-02-04 2015-11-09 2023-01-20 154807 ENSG00000196715 OTTHUMG00000129449 uc003tum.3 NM_173517 "CCDS64663|CCDS5529" Q8N0U8 23928358 MGI:1916818 RGD:1303249 608838 HGNC:21492 "ENST00000360768.5|NM_173517.6" HGNC:33182 VKORC1P1 VKORC1 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2006-11-20 2020-04-24 414355 ENSG00000233243 NG_004115 HGNC:33182 HGNC:33183 VKORC1P2 VKORC1 pseudogene 2 pseudogene pseudogene Approved 1p32 01p32 2006-11-20 2006-11-20 414357 NG_004116 HGNC:33183 -HGNC:12698 VLDLR very low density lipoprotein receptor protein-coding gene gene with protein product Approved 9p24.2 09p24.2 "CARMQ1|CHRMQ1|VLDLRCH" Low density lipoprotein receptors 634 1993-09-24 2023-01-20 7436 ENSG00000147852 OTTHUMG00000019447 uc003zhk.2 NM_003383 "CCDS6446|CCDS94377|CCDS94376|CCDS34979" P98155 8294473 MGI:98935 RGD:3963 192977 120470 HGNC:12698 "ENST00000382100.8|NM_003383.5" HGNC:12698 +HGNC:12698 VLDLR very low density lipoprotein receptor protein-coding gene gene with protein product Approved 9p24.2 09p24.2 "CARMQ1|CHRMQ1|VLDLRCH" Low density lipoprotein receptors 634 1993-09-24 2023-01-20 7436 ENSG00000147852 OTTHUMG00000019447 uc003zhk.2 NM_003383 "CCDS94376|CCDS6446|CCDS34979|CCDS94377" P98155 8294473 MGI:98935 RGD:3963 192977 120470 HGNC:12698 "ENST00000382100.8|NM_003383.5" HGNC:12698 HGNC:49621 VLDLR-AS1 VLDLR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.2 09p24.2 lincRNA-VLDLR Antisense RNAs 1987 2014-01-24 2016-11-25 401491 ENSG00000236404 OTTHUMG00000019448 "AK092343|BC004474" NR_015375 "21057500|24874432" lincrna-vldlr VLDLR-AS1 HGNC:49621 HGNC:22082 VMA21 vacuolar ATPase assembly factor VMA21 protein-coding gene gene with protein product Approved Xq28 Xq28 XMEA MEAX "myopathy with excessive autophagy|VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)" 2009-01-10 2019-01-21 2023-01-20 203547 ENSG00000160131 OTTHUMG00000024168 uc004feu.4 AK096835 NM_001017980 "CCDS35430|CCDS87789" Q3ZAQ7 "2892402|10757644|19379691" MGI:1914298 RGD:1566155 LRG_860|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_860.xml 300913 189325 HGNC:22082 "ENST00000330374.7|NM_001017980.4" HGNC:22082 HGNC:33803 VMAC vimentin type intermediate filament associated coiled-coil protein protein-coding gene gene with protein product Approved 19p13.3 19p13.3 2009-06-12 2017-06-13 2023-01-20 400673 ENSG00000187650 OTTHUMG00000180618 uc002mds.5 BC110802 NM_001017921 CCDS32881 Q2NL98 14985129 MGI:2146912 RGD:1303340 617204 HGNC:33803 "ENST00000339485.4|NM_001017921.4" -HGNC:30387 VMO1 vitelline membrane outer layer 1 homolog protein-coding gene gene with protein product Approved 17p13.2 17p13.2 vitelline membrane outer layer 1 homolog (chicken) 2005-11-14 2016-04-05 2023-01-20 284013 ENSG00000182853 OTTHUMG00000177898 uc002fyx.4 AF521892 NM_182566 "CCDS45587|CCDS45586|CCDS45585|CCDS11055" Q7Z5L0 22025569 MGI:2685587 RGD:1559861 HGNC:30387 "ENST00000328739.6|NM_182566.3" +HGNC:30387 VMO1 vitelline membrane outer layer 1 homolog protein-coding gene gene with protein product Approved 17p13.2 17p13.2 vitelline membrane outer layer 1 homolog (chicken) 2005-11-14 2016-04-05 2023-01-20 284013 ENSG00000182853 OTTHUMG00000177898 uc002fyx.4 AF521892 NM_182566 "CCDS45586|CCDS45587|CCDS11055|CCDS45585" Q7Z5L0 22025569 MGI:2685587 RGD:1559861 HGNC:30387 "ENST00000328739.6|NM_182566.3" HGNC:29559 VMP1 vacuole membrane protein 1 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "EPG3|TANGO5" "ectopic P-granules autophagy protein 3 homolog (C. elegans)|transport and golgi organization 5 homolog (Drosophila)" TMEM49 transmembrane protein 49 MicroRNA protein coding host genes 1691 2005-04-28 2011-03-02 2011-03-02 2023-01-20 81671 ENSG00000062716 OTTHUMG00000179882 uc002ixu.5 NM_030938 CCDS11619 Q96GC9 "11230166|11785947" MGI:1923159 RGD:70367 611753 HGNC:29559 "ENST00000262291.9|NM_030938.5" HGNC:13548 VN1R1 vomeronasal 1 receptor 1 protein-coding gene gene with protein product Approved 19q13.4 19q13.4 "V1RL1|ZVNR1|ZVNH1" VNR19I1 vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1 Vomeronasal receptors 291 2003-01-15 2003-01-15 2023-01-20 57191 ENSG00000178201 OTTHUMG00000183400 uc002qos.3 AF255342 NM_020633 CCDS12951 Q9GZP7 10973240 RGD:1359291 605234 HGNC:13548 "ENST00000321039.5|NM_020633.4" HGNC:19872 VN1R2 vomeronasal 1 receptor 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 V1RL2 Vomeronasal receptors 291 2003-01-15 2023-01-20 317701 ENSG00000196131 OTTHUMG00000182906 uc002qbi.2 AF370359 NM_173856 CCDS12862 Q8NFZ6 12123587 "MGI:2159615|MGI:2159616|MGI:2159624|MGI:2159625|MGI:2159626|MGI:2159632|MGI:2159633|MGI:2159634|MGI:2182253|MGI:3645524|MGI:3648262" RGD:1359612 HGNC:19872 "ENST00000341702.3|NM_173856.2" @@ -42035,54 +42037,54 @@ HGNC:33225 VN2R19P vomeronasal 2 receptor 19, pseudogene pseudogene pseudogene A HGNC:33226 VN2R20P vomeronasal 2 receptor 20 pseudogene pseudogene pseudogene Approved 21q21.2 21q21.2 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033408 NG_006065 HGNC:33226 HGNC:33938 VN2R21P vomeronasal 2 receptor 21 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 Vomeronasal receptors 291 2008-01-16 2012-06-19 100127050 NG_007174 HGNC:33938 HGNC:12705 VNN1 vanin 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 Tiff66 "pantetheine hydrolase|pantetheinase" Vanin family 10 1998-11-13 2023-01-20 8876 ENSG00000112299 OTTHUMG00000015587 uc003qdo.4 AJ132099 NM_004666 CCDS5159 O95497 9790769 MGI:108395 RGD:1310075 603570 objectId:3063 3.5.1.92 HGNC:12705 "ENST00000367928.5|NM_004666.3" -HGNC:12706 VNN2 vanin 2 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "FOAP-4|GPI-80" pantetheinase Vanin family 10 1998-11-13 2023-01-20 8875 ENSG00000112303 OTTHUMG00000015588 uc003qdt.4 AB026705 NM_001242350 "CCDS5161|CCDS5162|CCDS56451" O95498 "9790769|11491533" 603571 3.5.1.92 HGNC:12706 "ENST00000326499.11|NM_004665.6" +HGNC:12706 VNN2 vanin 2 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "FOAP-4|GPI-80" pantetheinase Vanin family 10 1998-11-13 2023-01-20 8875 ENSG00000112303 OTTHUMG00000015588 uc003qdt.4 AB026705 NM_001242350 "CCDS5162|CCDS56451|CCDS5161" O95498 "9790769|11491533" 603571 3.5.1.92 HGNC:12706 "ENST00000326499.11|NM_004665.6" HGNC:16431 VNN3P vanin 3, pseudogene pseudogene pseudogene Approved 6q23.2 06q23.2 HSA238982 VNN3 vanin 3 Vanin family 10 2001-08-28 2021-07-12 2021-07-12 2023-03-15 55350 ENSG00000093134 OTTHUMG00000015589 uc063rkw.1 AJ238982 NR_028290 "10501839|19932582|19322213" MGI:1347055 RGD:1560609 606592 3.5.1.92 HGNC:16431 -HGNC:34518 VOPP1 VOPP1 WW domain binding protein protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "ECop|GASP|FLJ20532|DKFZp564K0822|WBP1L2" "Glioblastoma-amplified secreted protein|EGFR-coamplified and overexpressed protein" "vesicular, overexpressed in cancer, prosurvival protein 1|VOPP1, WBP1/VOPP1 family member" WBP1/VOPP1 family 1564 2009-07-30 2019-01-31 2023-01-20 81552 ENSG00000154978 OTTHUMG00000156124 uc003tqs.5 NM_030796 "CCDS83187|CCDS47588|CCDS64655|CCDS64656|CCDS64654|CCDS83186" Q96AW1 "15735698|22120523" MGI:2141658 RGD:1306494 611915 HGNC:34518 "ENST00000285279.10|NM_030796.5" +HGNC:34518 VOPP1 VOPP1 WW domain binding protein protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "ECop|GASP|FLJ20532|DKFZp564K0822|WBP1L2" "Glioblastoma-amplified secreted protein|EGFR-coamplified and overexpressed protein" "vesicular, overexpressed in cancer, prosurvival protein 1|VOPP1, WBP1/VOPP1 family member" WBP1/VOPP1 family 1564 2009-07-30 2019-01-31 2023-01-20 81552 ENSG00000154978 OTTHUMG00000156124 uc003tqs.5 NM_030796 "CCDS64656|CCDS47588|CCDS83186|CCDS83187|CCDS64655|CCDS64654" Q96AW1 "15735698|22120523" MGI:2141658 RGD:1306494 611915 HGNC:34518 "ENST00000285279.10|NM_030796.5" HGNC:55874 VOPP1-DT VOPP1 divergent transcript non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Divergent transcripts 1990 2021-09-08 2021-09-08 105375287 ENSG00000223475 XR_007060330 HGNC:12709 VPREB1 V-set pre-B cell surrogate light chain 1 protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "VpreB|CD179A" pre-B lymphocyte 1 "CD molecules|V-set domain containing" "471|590" 1988-08-31 2017-03-13 2023-01-20 7441 ENSG00000169575 OTTHUMG00000151042 uc002zvx.2 M34927 NM_001303509 "CCDS77657|CCDS13798" P12018 3139558 MGI:98936 RGD:1588558 605141 CD179a HGNC:12709 "ENST00000403807.4|NM_007128.4" HGNC:12710 VPREB3 V-set pre-B cell surrogate light chain 3 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 8HS20 pre-B lymphocyte 3 V-set domain containing 590 1999-09-09 2017-03-13 2023-01-20 29802 ENSG00000128218 OTTHUMG00000150738 uc002zxt.4 NM_013378 CCDS13813 Q9UKI3 "10702669|14670953" MGI:98938 RGD:1306807 605017 HGNC:12710 "ENST00000248948.4|NM_013378.3" HGNC:13488 VPS4A vacuolar protein sorting 4 homolog A protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "VPS4|VPS4-1|FLJ22197|SKD2|SKD1|SKD1A" "vacuolar protein sorting 4A (yeast homolog)|vacuolar protein sorting 4A (yeast)|vacuolar protein sorting 4 homolog A (S. cerevisiae)" "AAA ATPases|ESCRT-IV" "413|1120" 2002-06-12 2016-04-05 2023-01-20 27183 ENSG00000132612 OTTHUMG00000175589 uc002eww.4 AF112215 NM_013245 CCDS45517 Q9UN37 "10637304|11563910" MGI:1890520 RGD:628810 609982 HGNC:13488 "ENST00000254950.13|NM_013245.3" HGNC:13488 HGNC:10895 VPS4B vacuolar protein sorting 4 homolog B protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "VPS4-2|SKD1B" SKD1 "suppressor of K+ transport defect 1|vacuolar protein sorting 4B (yeast)|vacuolar protein sorting 4 homolog B (S. cerevisiae)" "AAA ATPases|ESCRT-IV" "413|1120" 1999-07-22 2002-06-14 2016-04-05 2023-01-20 9525 ENSG00000119541 OTTHUMG00000132790 uc002lix.4 AF038960 NM_004869 CCDS11983 O75351 11563910 MGI:1100499 RGD:1305969 609983 HGNC:10895 "ENST00000238497.10|NM_004869.4" HGNC:10895 -HGNC:29122 VPS8 VPS8 subunit of CORVET complex protein-coding gene gene with protein product Approved 3q27.2 03q27.2 FLJ32099 KIAA0804 "KIAA0804|vacuolar protein sorting 8 homolog (S. cerevisiae)|VPS8, CORVET complex subunit" "Ring finger proteins|CORVET complex" "58|1532" 2005-02-25 2006-07-07 2019-01-25 2023-01-20 23355 ENSG00000156931 OTTHUMG00000156707 uc062qxe.1 AK056661 NM_015303 "CCDS46972|CCDS46971" Q8N3P4 "9872452|28931724" MGI:2146407 RGD:1309443 618366 HGNC:29122 "ENST00000625842.3|NM_001009921.3" HGNC:29122 +HGNC:29122 VPS8 VPS8 subunit of CORVET complex protein-coding gene gene with protein product Approved 3q27.2 03q27.2 FLJ32099 KIAA0804 "KIAA0804|vacuolar protein sorting 8 homolog (S. cerevisiae)|VPS8, CORVET complex subunit" "Ring finger proteins|CORVET complex" "58|1532" 2005-02-25 2006-07-07 2019-01-25 2023-01-20 23355 ENSG00000156931 OTTHUMG00000156707 uc062qxe.1 AK056661 NM_015303 "CCDS46971|CCDS46972" Q8N3P4 "9872452|28931724" MGI:2146407 RGD:1309443 618366 HGNC:29122 "ENST00000625842.3|NM_001009921.3" HGNC:29122 HGNC:13526 VPS9D1 VPS9 domain containing 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 ATP-BL C16orf7 chromosome 16 open reading frame 7 VPS9 domain containing 928 2000-09-20 2012-10-09 2012-10-09 2023-01-20 9605 ENSG00000075399 OTTHUMG00000173219 uc002fom.2 AB018551 NM_004913 CCDS42220 Q9Y2B5 10231027 MGI:1914143 RGD:1565149 619292 HGNC:13526 "ENST00000389386.8|NM_004913.3" HGNC:48915 VPS9D1-AS1 VPS9D1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 MYU c-Myc-upregulated lncRNA Antisense RNAs 1987 2013-07-01 2023-05-04 100128881 ENSG00000261373 OTTHUMG00000173220 NR_036480 "27568568|35140744" VPS9D1-AS1 HGNC:48915 -HGNC:14583 VPS11 VPS11 core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "RNF108|PEP5" "vacuolar protein sorting 11 (yeast homolog)|vacuolar protein sorting 11 homolog (S. cerevisiae)|VPS11, CORVET/HOPS core subunit" "Ring finger proteins|HOPS complex|CORVET complex" "58|1531|1532" 2001-02-08 2019-01-25 2023-01-20 55823 ENSG00000160695 OTTHUMG00000166355 uc058iep.1 AB027508 NM_021729 "CCDS73404|CCDS76485" Q9H270 26463206 MGI:1918982 RGD:1308038 608549 476835 HGNC:14583 "ENST00000621676.5|NM_021729.6" HGNC:14583 +HGNC:14583 VPS11 VPS11 core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "RNF108|PEP5" "vacuolar protein sorting 11 (yeast homolog)|vacuolar protein sorting 11 homolog (S. cerevisiae)|VPS11, CORVET/HOPS core subunit" "Ring finger proteins|HOPS complex|CORVET complex" "58|1531|1532" 2001-02-08 2019-01-25 2023-01-20 55823 ENSG00000160695 OTTHUMG00000166355 uc058iep.1 AB027508 NM_021729 "CCDS76485|CCDS73404" Q9H270 26463206 MGI:1918982 RGD:1308038 608549 476835 HGNC:14583 "ENST00000621676.5|NM_021729.6" HGNC:14583 HGNC:55227 VPS11-DT VPS11 divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 TCONS_00019777 Divergent transcripts 1990 2020-09-15 2020-09-15 118597841 ENSG00000272186 -HGNC:1908 VPS13A vacuolar protein sorting 13 homolog A protein-coding gene gene with protein product Approved 9q21.2 09q21.2 "KIAA0986|BLTP5A" "chorein|bridge-like lipid transfer protein family member 5A" CHAC "chorea acanthocytosis|vacuolar protein sorting 13A (yeast)|vacuolar protein sorting 13 homolog A (S. cerevisiae)" bridge-like lipid transfer protein family 2141 1997-06-12 2004-02-11 2016-04-05 2023-01-20 23230 ENSG00000197969 OTTHUMG00000020055 uc004akr.4 AB023203 NM_015186 "CCDS6655|CCDS55321|CCDS47983|CCDS6656" Q96RL7 "9382101|11381253" MGI:2444304 RGD:1311340 605978 120472 HGNC:1908 "ENST00000360280.8|NM_033305.3" HGNC:1908 +HGNC:1908 VPS13A vacuolar protein sorting 13 homolog A protein-coding gene gene with protein product Approved 9q21.2 09q21.2 "KIAA0986|BLTP5A" "chorein|bridge-like lipid transfer protein family member 5A" CHAC "chorea acanthocytosis|vacuolar protein sorting 13A (yeast)|vacuolar protein sorting 13 homolog A (S. cerevisiae)" bridge-like lipid transfer protein family 2141 1997-06-12 2004-02-11 2016-04-05 2023-01-20 23230 ENSG00000197969 OTTHUMG00000020055 uc004akr.4 AB023203 NM_015186 "CCDS6655|CCDS47983|CCDS6656|CCDS55321" Q96RL7 "9382101|11381253" MGI:2444304 RGD:1311340 605978 120472 HGNC:1908 "ENST00000360280.8|NM_033305.3" HGNC:1908 HGNC:44167 VPS13A-AS1 VPS13A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.2 09q21.2 VPS13A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100286938 ENSG00000232998 OTTHUMG00000020054 uc022bij.2 "AA954471|DB509755" NR_026668 VPS13A-AS1 HGNC:44167 -HGNC:2183 VPS13B vacuolar protein sorting 13 homolog B protein-coding gene gene with protein product Approved 8q22.2 08q22.2 BLTP5B bridge-like lipid transfer protein family member 5B "CHS1|COH1" "Cohen syndrome 1|vacuolar protein sorting 13 homolog B (yeast)" bridge-like lipid transfer protein family 2141 1993-12-15 2005-04-08 2016-05-04 2023-03-15 157680 ENSG00000132549 OTTHUMG00000140383 uc003yiv.5 AJ608772 NM_017890 "CCDS6280|CCDS47903|CCDS6281" Q7Z7G8 "7920642|15498460" MGI:1916380 RGD:1311183 LRG_351|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_351.xml 607817 120476 HGNC:2183 "ENST00000357162.7|NM_152564.5" HGNC:2183 +HGNC:2183 VPS13B vacuolar protein sorting 13 homolog B protein-coding gene gene with protein product Approved 8q22.2 08q22.2 BLTP5B bridge-like lipid transfer protein family member 5B "CHS1|COH1" "Cohen syndrome 1|vacuolar protein sorting 13 homolog B (yeast)" bridge-like lipid transfer protein family 2141 1993-12-15 2005-04-08 2016-05-04 2023-03-15 157680 ENSG00000132549 OTTHUMG00000140383 uc003yiv.5 AJ608772 NM_017890 "CCDS47903|CCDS6281|CCDS6280" Q7Z7G8 "7920642|15498460" MGI:1916380 RGD:1311183 LRG_351|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_351.xml 607817 120476 HGNC:2183 "ENST00000357162.7|NM_152564.5" HGNC:2183 HGNC:54375 VPS13B-DT VPS13B divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.2 08q22.2 OLC8 oncogenic long non‐coding RNA on chromosome 8 Divergent transcripts 1990 2019-05-17 2019-07-11 105375666 ENSG00000253948 XR_007061025 31273847 HGNC:54375 -HGNC:23594 VPS13C vacuolar protein sorting 13 homolog C protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "FLJ20136|FLJ10381|KIAA1421|BLTP5C" bridge-like lipid transfer protein family member 5C "vacuolar protein sorting 13C (yeast)|vacuolar protein sorting 13 homolog C (S. cerevisiae)" bridge-like lipid transfer protein family 2141 2004-02-10 2016-04-05 2023-01-20 54832 ENSG00000129003 OTTHUMG00000132801 uc002aha.4 AJ608770 NM_017684 "CCDS32257|CCDS45272|CCDS10180|CCDS58367" Q709C8 MGI:2444207 RGD:1560364 608879 456083 HGNC:23594 "ENST00000644861.2|NM_020821.3" HGNC:23594 +HGNC:23594 VPS13C vacuolar protein sorting 13 homolog C protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "FLJ20136|FLJ10381|KIAA1421|BLTP5C" bridge-like lipid transfer protein family member 5C "vacuolar protein sorting 13C (yeast)|vacuolar protein sorting 13 homolog C (S. cerevisiae)" bridge-like lipid transfer protein family 2141 2004-02-10 2016-04-05 2023-01-20 54832 ENSG00000129003 OTTHUMG00000132801 uc002aha.4 AJ608770 NM_017684 "CCDS10180|CCDS45272|CCDS58367|CCDS32257" Q709C8 MGI:2444207 RGD:1560364 608879 456083 HGNC:23594 "ENST00000644861.2|NM_020821.3" HGNC:23594 HGNC:55425 VPS13C-DT VPS13C divergent transcript non-coding RNA RNA, long non-coding Approved 15q22.2 15q22.2 Divergent transcripts 1990 2021-01-07 2021-01-07 101928907 ENSG00000259251 NR_135690 -HGNC:23595 VPS13D vacuolar protein sorting 13 homolog D protein-coding gene gene with protein product Approved 1p36.22-p36.21 01p36.22-p36.21 "FLJ10619|KIAA0453|BLTP5D" bridge-like lipid transfer protein family member 5D "vacuolar protein sorting 13D (yeast)|vacuolar protein sorting 13 homolog D (S. cerevisiae)" "Small nucleolar RNA protein coding host genes|bridge-like lipid transfer protein family" "1835|2141" 2004-02-10 2016-04-05 2023-01-20 55187 ENSG00000048707 OTTHUMG00000013155 uc031tou.2 AJ608774 NM_015378 "CCDS30588|CCDS30589" Q5THJ4 MGI:2448530 RGD:1308403 LRG_1213|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1213.xml 608877 HGNC:23595 "ENST00000620676.6|NM_015378.4" HGNC:23595 -HGNC:14584 VPS16 VPS16 core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 20p13 20p13 "vacuolar protein sorting 16 homolog (S. cerevisiae)|VPS16, CORVET/HOPS core subunit" "HOPS complex|CORVET complex" "1531|1532" 2001-02-08 2009-07-07 2019-01-25 2023-01-20 64601 ENSG00000215305 OTTHUMG00000031714 uc002whe.5 AF308801 NM_022575 "CCDS13037|CCDS13036" Q9H269 "26463206|25783203" MGI:2136772 RGD:1359414 608550 HGNC:14584 "ENST00000380445.8|NM_022575.4" HGNC:14584 +HGNC:23595 VPS13D vacuolar protein sorting 13 homolog D protein-coding gene gene with protein product Approved 1p36.22-p36.21 01p36.22-p36.21 "FLJ10619|KIAA0453|BLTP5D" bridge-like lipid transfer protein family member 5D "vacuolar protein sorting 13D (yeast)|vacuolar protein sorting 13 homolog D (S. cerevisiae)" "Small nucleolar RNA protein coding host genes|bridge-like lipid transfer protein family" "1835|2141" 2004-02-10 2016-04-05 2023-01-20 55187 ENSG00000048707 OTTHUMG00000013155 uc031tou.2 AJ608774 NM_015378 "CCDS30589|CCDS30588" Q5THJ4 MGI:2448530 RGD:1308403 LRG_1213|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1213.xml 608877 HGNC:23595 "ENST00000620676.6|NM_015378.4" HGNC:23595 +HGNC:14584 VPS16 VPS16 core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 20p13 20p13 "vacuolar protein sorting 16 homolog (S. cerevisiae)|VPS16, CORVET/HOPS core subunit" "HOPS complex|CORVET complex" "1531|1532" 2001-02-08 2009-07-07 2019-01-25 2023-01-20 64601 ENSG00000215305 OTTHUMG00000031714 uc002whe.5 AF308801 NM_022575 "CCDS13036|CCDS13037" Q9H269 "26463206|25783203" MGI:2136772 RGD:1359414 608550 HGNC:14584 "ENST00000380445.8|NM_022575.4" HGNC:14584 HGNC:15972 VPS18 VPS18 core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "KIAA1475|PEP3" "vacuolar protein sorting protein 18|vacuolar protein sorting 18 homolog (S. cerevisiae)|VPS18, CORVET/HOPS core subunit" "HOPS complex|CORVET complex" "1531|1532" 2001-06-25 2019-01-25 2023-01-20 57617 ENSG00000104142 OTTHUMG00000130135 uc001zne.3 AF308802 NM_020857 CCDS10069 Q9P253 "11250079|16203730|26463206" MGI:2443626 RGD:1311556 608551 HGNC:15972 "ENST00000220509.10|NM_020857.3" HGNC:15972 HGNC:28122 VPS25 vacuolar protein sorting 25 homolog protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MGC10540|EAP20|DERP9" "vacuolar protein sorting 25 (yeast)|vacuolar protein sorting 25 homolog (S. cerevisiae)" ESCRT-II 1117 2005-08-02 2016-04-05 2023-01-20 84313 ENSG00000131475 OTTHUMG00000180649 uc002ibi.5 AB014763 NM_032353 CCDS11438 Q9BRG1 15511219 MGI:106354 RGD:1584685 610907 HGNC:28122 "ENST00000253794.7|NM_032353.4" HGNC:44250 VPS25P1 VPS25 pseudogene 1 pseudogene pseudogene Approved 1p12 01p12 vacuolar protein sorting 25 homolog (S. cerevisiae) pseudogene 1 2012-07-25 2013-09-13 2013-09-13 441899 ENSG00000226755 OTTHUMG00000012148 NG_022801 PGOHUM00000244868 HGNC:44250 -HGNC:12711 VPS26A VPS26 retromer complex component A protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "Hbeta58|PEP8A" VPS26 "vacuolar protein sorting 26 (yeast homolog)|vacuolar protein sorting 26 homolog A (S. pombe)|VPS26, retromer complex component A" 2000-03-15 2005-10-11 2022-05-26 2023-01-20 9559 ENSG00000122958 OTTHUMG00000018376 uc001jpb.4 AF054179 NM_004896 "CCDS41536|CCDS7286" O75436 "1638986|9653160|16732284" MGI:1353654 RGD:1359254 605506 HGNC:12711 "ENST00000263559.11|NM_004896.5" +HGNC:12711 VPS26A VPS26 retromer complex component A protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "Hbeta58|PEP8A" VPS26 "vacuolar protein sorting 26 (yeast homolog)|vacuolar protein sorting 26 homolog A (S. pombe)|VPS26, retromer complex component A" 2000-03-15 2005-10-11 2022-05-26 2023-01-20 9559 ENSG00000122958 OTTHUMG00000018376 uc001jpb.4 AF054179 NM_004896 "CCDS7286|CCDS41536" O75436 "1638986|9653160|16732284" MGI:1353654 RGD:1359254 605506 HGNC:12711 "ENST00000263559.11|NM_004896.5" HGNC:44611 VPS26AP1 VPS26A pseudogene 1 pseudogene pseudogene Approved 3q13.31 03q13.31 vacuolar protein sorting 26 homolog A (S. pombe) pseudogene 1 2012-11-19 2013-09-13 2013-09-13 100421731 ENSG00000240375 OTTHUMG00000159341 NG_025727 PGOHUM00000238136 HGNC:44611 HGNC:28119 VPS26B VPS26 retromer complex component B protein-coding gene gene with protein product Approved 11q25 11q25 "MGC10485|Pep8b" "vacuolar protein sorting 26 homolog B (S. pombe)|VPS26, retromer complex component B" 2005-10-11 2022-05-26 2023-01-20 112936 ENSG00000151502 OTTHUMG00000167175 uc001qhe.4 NM_052875 CCDS8495 Q4G0F5 "16190980|21920005" MGI:1917656 RGD:1597170 610027 HGNC:28119 "ENST00000281187.10|NM_052875.5" HGNC:44612 VPS26BP1 VPS26B pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 vacuolar protein sorting 26 homolog B (S. pombe) pseudogene 1 2012-11-19 2013-09-13 2013-09-13 100421729 ENSG00000224895 OTTHUMG00000156831 NG_025575 PGOHUM00000237617 HGNC:44612 -HGNC:3044 VPS26C VPS26 endosomal protein sorting factor C protein-coding gene gene with protein product Approved 21q22.13 21q22.13 DCRA DSCR3 "Down syndrome critical region 3|DSCR3 arrestin fold containing" Retriever complex 1556 2000-03-06 2018-01-16 2018-01-16 2023-01-20 10311 ENSG00000157538 OTTHUMG00000086659 uc002ywf.2 D87343 NM_001331018 "CCDS82672|CCDS82673|CCDS33553|CCDS82671" O14972 "9399594|19794886|21502137|28892079" MGI:1206040 RGD:1306879 605298 HGNC:3044 "ENST00000309117.11|NM_006052.2" +HGNC:3044 VPS26C VPS26 endosomal protein sorting factor C protein-coding gene gene with protein product Approved 21q22.13 21q22.13 DCRA DSCR3 "Down syndrome critical region 3|DSCR3 arrestin fold containing" Retriever complex 1556 2000-03-06 2018-01-16 2018-01-16 2023-01-20 10311 ENSG00000157538 OTTHUMG00000086659 uc002ywf.2 D87343 NM_001331018 "CCDS82671|CCDS33553|CCDS82673|CCDS82672" O14972 "9399594|19794886|21502137|28892079" MGI:1206040 RGD:1306879 605298 HGNC:3044 "ENST00000309117.11|NM_006052.2" HGNC:54684 VPS26CP1 VPS26C pseudogene 1 pseudogene pseudogene Approved 2q33.3 02q33.3 2019-11-27 2019-11-27 100420893 ENSG00000213083 NG_023655 HGNC:18178 VPS28 VPS28 subunit of ESCRT-I protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "vacuolar protein sorting 28 (yeast)|vacuolar protein sorting 28 homolog (S. cerevisiae)|VPS28, ESCRT-I subunit" ESCRT-I 1116 2002-02-13 2019-01-31 2023-01-20 51160 ENSG00000160948 OTTHUMG00000165209 uc003zcs.2 AF316887 NM_016208 "CCDS34967|CCDS6425" Q9UK41 MGI:1914164 RGD:1306537 611952 HGNC:18178 "ENST00000292510.6|NM_016208.4" -HGNC:14340 VPS29 VPS29 retromer complex component protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "PEP11|DC7|DC15" "vacuolar protein sorting 29 homolog (S. cerevisiae)|VPS29, retromer complex component" Retriever complex 1556 2001-01-04 2019-01-25 2023-01-20 51699 ENSG00000111237 OTTHUMG00000169527 uc001tqy.5 AF193795 NM_001282150 "CCDS53832|CCDS41832|CCDS73525" Q9UBQ0 "11062004|21629666" MGI:1928344 RGD:1308332 606932 HGNC:14340 "ENST00000549578.6|NM_016226.5" -HGNC:18179 VPS33A VPS33A core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "vacuolar protein sorting 33A (yeast)|vacuolar protein sorting 33 homolog A (S. cerevisiae)|VPS33A, CORVET/HOPS core subunit" "HOPS complex|CORVET complex" "1531|1532" 2002-02-13 2019-01-25 2023-01-20 65082 ENSG00000139719 OTTHUMG00000168920 uc001ucd.4 AK026048 NM_001351018 "CCDS86339|CCDS9231" Q96AX1 "11250079|26463206" MGI:1924823 RGD:620643 610034 HGNC:18179 "ENST00000267199.9|NM_022916.6" HGNC:18179 -HGNC:12712 VPS33B VPS33B late endosome and lysosome associated protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FLJ14848 "vacuolar protein sorting 33B (yeast homolog)|vacuolar protein sorting 33 homolog B (yeast)|VPS33B, late endosome and lysosome associated" 1999-11-19 2019-01-25 2023-01-20 26276 ENSG00000184056 OTTHUMG00000149835 uc002bqp.3 AF201694 NM_018668 "CCDS73783|CCDS10369" Q9H267 "8996080|26403612" MGI:2446237 RGD:620644 LRG_884|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_884.xml 608552 120480 HGNC:12712 "ENST00000333371.8|NM_018668.5" HGNC:12712 +HGNC:14340 VPS29 VPS29 retromer complex component protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "PEP11|DC7|DC15" "vacuolar protein sorting 29 homolog (S. cerevisiae)|VPS29, retromer complex component" Retriever complex 1556 2001-01-04 2019-01-25 2023-01-20 51699 ENSG00000111237 OTTHUMG00000169527 uc001tqy.5 AF193795 NM_001282150 "CCDS41832|CCDS53832|CCDS73525" Q9UBQ0 "11062004|21629666" MGI:1928344 RGD:1308332 606932 HGNC:14340 "ENST00000549578.6|NM_016226.5" +HGNC:18179 VPS33A VPS33A core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "vacuolar protein sorting 33A (yeast)|vacuolar protein sorting 33 homolog A (S. cerevisiae)|VPS33A, CORVET/HOPS core subunit" "HOPS complex|CORVET complex" "1531|1532" 2002-02-13 2019-01-25 2023-01-20 65082 ENSG00000139719 OTTHUMG00000168920 uc001ucd.4 AK026048 NM_001351018 "CCDS9231|CCDS86339" Q96AX1 "11250079|26463206" MGI:1924823 RGD:620643 610034 HGNC:18179 "ENST00000267199.9|NM_022916.6" HGNC:18179 +HGNC:12712 VPS33B VPS33B late endosome and lysosome associated protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FLJ14848 "vacuolar protein sorting 33B (yeast homolog)|vacuolar protein sorting 33 homolog B (yeast)|VPS33B, late endosome and lysosome associated" 1999-11-19 2019-01-25 2023-01-20 26276 ENSG00000184056 OTTHUMG00000149835 uc002bqp.3 AF201694 NM_018668 "CCDS10369|CCDS73783" Q9H267 "8996080|26403612" MGI:2446237 RGD:620644 LRG_884|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_884.xml 608552 120480 HGNC:12712 "ENST00000333371.8|NM_018668.5" HGNC:12712 HGNC:51413 VPS33B-DT VPS33B divergent transcript non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Divergent transcripts 1990 2017-08-03 2017-08-03 101926911 ENSG00000214432 OTTHUMG00000171687 AK055351 NR_110104 27716329 HGNC:51413 HGNC:13487 VPS35 VPS35 retromer complex component protein-coding gene gene with protein product Approved 16q11.2 16q11.2 "FLJ10752|MEM3|PARK17" "vacuolar protein sorting 35 homolog (S. cerevisiae)|VPS35, retromer complex component" Armadillo like helical domain containing 1492 2001-06-25 2019-01-25 2023-01-20 55737 ENSG00000069329 OTTHUMG00000132542 uc002eef.5 AF175265 NM_018206 CCDS10721 Q96QK1 "11112353|21763482" MGI:1890467 RGD:1589784 601501 285081 HGNC:13487 "ENST00000299138.12|NM_018206.6" HGNC:13487 HGNC:24641 VPS35L VPS35 endosomal protein sorting factor like protein-coding gene gene with protein product Approved 16p12.3 16p12.3 MGC16824 C16orf62 chromosome 16 open reading frame 62 Retriever complex 1556 2007-10-22 2018-01-16 2018-01-16 2023-01-20 57020 ENSG00000103544 OTTHUMG00000167925 uc059rnn.1 NM_020314 CCDS32397 Q7Z3J2 "10493829|25355947|28892079" MGI:1918767 RGD:1564485 618981 HGNC:24641 "ENST00000417362.7|NM_020314.7" HGNC:24641 HGNC:51805 VPS35P1 VPS35 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 "vacuolar protein sorting 35 homolog (S. cerevisiae) pseudogene 1|VPS35, retromer complex component pseudogene 1" 2015-06-09 2019-01-25 2019-01-25 100422055 ENSG00000260809 OTTHUMG00000176657 NG_026414 PGOHUM00000293829 HGNC:51805 HGNC:20312 VPS36 vacuolar protein sorting 36 homolog protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "CGI-145|Eap45" C13orf9 "chromosome 13 open reading frame 9|vacuolar protein sorting 36 homolog (yeast)|vacuolar protein sorting 36 homolog (S. cerevisiae)" ESCRT-II 1117 2003-01-24 2005-08-02 2016-04-05 2023-01-20 51028 ENSG00000136100 OTTHUMG00000016964 uc001vgs.5 AF151903 NM_001282168 "CCDS9434|CCDS73577" Q86VN1 "11278625|15755741" MGI:1917410 RGD:1309754 610903 HGNC:20312 "ENST00000378060.9|NM_016075.4" -HGNC:24928 VPS37A VPS37A subunit of ESCRT-I protein-coding gene gene with protein product Approved 8p22 08p22 "FLJ32642|HCRP1|SPG53" hepatocellular carcinoma related protein 1 PQBP2 "vacuolar protein sorting 37A (yeast)|polyglutamine binding protein 2|vacuolar protein sorting 37 homolog A (S. cerevisiae)" ESCRT-I 1116 2005-09-08 2019-01-31 2023-01-20 137492 ENSG00000155975 OTTHUMG00000130785 uc003wxj.4 NM_152415 "CCDS6001|CCDS47811" Q8NEZ2 "15240819|15218037|22717650" MGI:1261835 RGD:1560016 609927 324251 HGNC:24928 "ENST00000324849.9|NM_152415.3" HGNC:24928 +HGNC:24928 VPS37A VPS37A subunit of ESCRT-I protein-coding gene gene with protein product Approved 8p22 08p22 "FLJ32642|HCRP1|SPG53" hepatocellular carcinoma related protein 1 PQBP2 "vacuolar protein sorting 37A (yeast)|polyglutamine binding protein 2|vacuolar protein sorting 37 homolog A (S. cerevisiae)" ESCRT-I 1116 2005-09-08 2019-01-31 2023-01-20 137492 ENSG00000155975 OTTHUMG00000130785 uc003wxj.4 NM_152415 "CCDS47811|CCDS6001" Q8NEZ2 "15240819|15218037|22717650" MGI:1261835 RGD:1560016 609927 324251 HGNC:24928 "ENST00000324849.9|NM_152415.3" HGNC:24928 HGNC:25754 VPS37B VPS37B subunit of ESCRT-I protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ12750 "vacuolar protein sorting 37B (yeast)|vacuolar protein sorting 37 homolog B (S. cerevisiae)" ESCRT-I 1116 2005-08-17 2019-01-31 2023-01-20 79720 ENSG00000139722 OTTHUMG00000168767 uc001udl.4 AK022812 NM_024667 CCDS9239 Q9H9H4 15218037 MGI:1916724 RGD:1304576 610037 HGNC:25754 "ENST00000267202.7|NM_024667.3" HGNC:26097 VPS37C VPS37C subunit of ESCRT-I protein-coding gene gene with protein product Approved 11q12.2 11q12.2 FLJ20847 "vacuolar protein sorting 37C (yeast)|vacuolar protein sorting 37 homolog C (S. cerevisiae)" ESCRT-I 1116 2005-08-17 2019-01-31 2023-01-20 55048 ENSG00000167987 OTTHUMG00000167826 uc001nqv.2 AK097326 NM_017966 CCDS31573 A5D8V6 15509564 MGI:2147661 RGD:11384366 610038 HGNC:26097 "ENST00000301765.10|NM_017966.5" HGNC:18287 VPS37D VPS37D subunit of ESCRT-I protein-coding gene gene with protein product Approved 7q11.23 07q11.23 MGC35352 WBSCR24 "Williams Beuren syndrome chromosome region 24|vacuolar protein sorting 37D (yeast)|vacuolar protein sorting 37 homolog D (S. cerevisiae)" ESCRT-I 1116 2002-03-05 2005-08-18 2019-01-31 2023-01-20 155382 ENSG00000176428 OTTHUMG00000157227 uc003tyr.4 AY081952 NM_152560 CCDS43596 Q86XT2 15218037 MGI:2159402 RGD:1587769 610039 HGNC:18287 "ENST00000324941.5|NM_001077621.2" -HGNC:20593 VPS39 VPS39 subunit of HOPS complex protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "KIAA0770|VAM6" "vacuolar protein sorting 39 (yeast)|vacuolar protein sorting 39 homolog (S. cerevisiae)|VPS39, HOPS complex subunit" "HOPS complex|MicroRNA protein coding host genes" "1531|1691" 2003-09-04 2019-01-25 2023-01-20 23339 ENSG00000166887 OTTHUMG00000130467 uc001zpc.4 AF280814 NM_015289 "CCDS10083|CCDS73710" Q96JC1 "11448994|26463206" MGI:2443189 RGD:1304858 612188 HGNC:20593 "ENST00000318006.10|NM_015289.5" +HGNC:20593 VPS39 VPS39 subunit of HOPS complex protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "KIAA0770|VAM6" "vacuolar protein sorting 39 (yeast)|vacuolar protein sorting 39 homolog (S. cerevisiae)|VPS39, HOPS complex subunit" "HOPS complex|MicroRNA protein coding host genes" "1531|1691" 2003-09-04 2019-01-25 2023-01-20 23339 ENSG00000166887 OTTHUMG00000130467 uc001zpc.4 AF280814 NM_015289 "CCDS73710|CCDS10083" Q96JC1 "11448994|26463206" MGI:2443189 RGD:1304858 612188 HGNC:20593 "ENST00000318006.10|NM_015289.5" HGNC:55378 VPS39-DT VPS39 divergent transcript non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 Divergent transcripts 1990 2020-11-12 2020-11-12 105370795 ENSG00000261002 XR_932179 -HGNC:12713 VPS41 VPS41 subunit of HOPS complex protein-coding gene gene with protein product Approved 7p14.1 07p14.1 HVSP41 "vacuolar protein sorting 41 (yeast homolog)|vacuolar protein sorting 41 (yeast)|vacuolar protein sorting 41 homolog (S. cerevisiae)|VPS41, HOPS complex subunit" "Ring finger proteins|HOPS complex" "58|1531" 2000-01-31 2019-01-25 2023-01-20 27072 ENSG00000006715 OTTHUMG00000023629 uc003tgy.4 U87309 NM_014396 "CCDS5458|CCDS5457" P49754 "9159129|26463206|11412045" MGI:1929215 RGD:1560511 605485 HGNC:12713 "ENST00000310301.9|NM_014396.4" HGNC:12713 -HGNC:14579 VPS45 vacuolar protein sorting 45 homolog protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "h-vps45|H1" "VPS45B|VPS45A" "vacuolar protein sorting 45A (yeast homolog)|vacuolar protein sorting 45A (yeast)|vacuolar protein sorting 45 homolog (S. cerevisiae)" 2001-02-08 2006-12-19 2016-04-05 2023-03-15 11311 ENSG00000136631 OTTHUMG00000012511 uc001etp.5 U35246 NM_007259 "CCDS944|CCDS60244|CCDS86017" Q9NRW7 8996080 MGI:891965 RGD:621267 LRG_1170|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1170.xml 610035 376411 HGNC:14579 "ENST00000644510.2|NM_007259.5" HGNC:14579 -HGNC:25956 VPS50 VPS50 subunit of EARP/GARPII complex protein-coding gene gene with protein product Approved 7q21.2-q21.3 07q21.2-q21.3 "KIAA1861|FLJ20097|DKFZp313I2429|VPS54L" syndetin CCDC132 "coiled-coil domain containing 132|VPS50, EARP/GARPII complex subunit" Endosome-associated recycling protein (EARP) complex 1423 2006-09-01 2015-06-29 2019-01-25 2023-01-20 55610 ENSG00000004766 OTTHUMG00000131733 "AL833112|AK055965|AL832393" NM_017667 "CCDS43617|CCDS5630|CCDS59065" Q96JG6 "11347906|25453831|25799061" MGI:1920538 RGD:1304751 616465 HGNC:25956 "ENST00000305866.10|NM_017667.4" +HGNC:12713 VPS41 VPS41 subunit of HOPS complex protein-coding gene gene with protein product Approved 7p14.1 07p14.1 HVSP41 "vacuolar protein sorting 41 (yeast homolog)|vacuolar protein sorting 41 (yeast)|vacuolar protein sorting 41 homolog (S. cerevisiae)|VPS41, HOPS complex subunit" "Ring finger proteins|HOPS complex" "58|1531" 2000-01-31 2019-01-25 2023-01-20 27072 ENSG00000006715 OTTHUMG00000023629 uc003tgy.4 U87309 NM_014396 "CCDS5457|CCDS5458" P49754 "9159129|26463206|11412045" MGI:1929215 RGD:1560511 605485 HGNC:12713 "ENST00000310301.9|NM_014396.4" HGNC:12713 +HGNC:14579 VPS45 vacuolar protein sorting 45 homolog protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "h-vps45|H1" "VPS45B|VPS45A" "vacuolar protein sorting 45A (yeast homolog)|vacuolar protein sorting 45A (yeast)|vacuolar protein sorting 45 homolog (S. cerevisiae)" 2001-02-08 2006-12-19 2016-04-05 2023-03-15 11311 ENSG00000136631 OTTHUMG00000012511 uc001etp.5 U35246 NM_007259 "CCDS86017|CCDS944|CCDS60244" Q9NRW7 8996080 MGI:891965 RGD:621267 LRG_1170|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1170.xml 610035 376411 HGNC:14579 "ENST00000644510.2|NM_007259.5" HGNC:14579 +HGNC:25956 VPS50 VPS50 subunit of EARP/GARPII complex protein-coding gene gene with protein product Approved 7q21.2-q21.3 07q21.2-q21.3 "KIAA1861|FLJ20097|DKFZp313I2429|VPS54L" syndetin CCDC132 "coiled-coil domain containing 132|VPS50, EARP/GARPII complex subunit" Endosome-associated recycling protein (EARP) complex 1423 2006-09-01 2015-06-29 2019-01-25 2023-01-20 55610 ENSG00000004766 OTTHUMG00000131733 "AL833112|AK055965|AL832393" NM_017667 "CCDS59065|CCDS5630|CCDS43617" Q96JG6 "11347906|25453831|25799061" MGI:1920538 RGD:1304751 616465 HGNC:25956 "ENST00000305866.10|NM_017667.4" HGNC:1172 VPS51 VPS51 subunit of GARP complex protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ANG2|ANG3|FFR" fat-free homolog (zebrafish) "C11orf3|C11orf2" "chromosome 11 open reading frame 3|chromosome 11 open reading frame 2|vacuolar protein sorting 51 homolog (S. cerevisiae)|VPS51, GARP complex subunit" "Endosome-associated recycling protein (EARP) complex|Golgi associated retrograde protein (GARP) complex" "1423|1424" 1998-08-06 2012-07-19 2019-01-25 2023-01-20 738 ENSG00000149823 OTTHUMG00000165600 uc001ocr.3 AF024631 NM_013265 CCDS8093 Q9UID3 "9286704|20685960" MGI:1915755 RGD:2319165 615738 HGNC:1172 "ENST00000279281.8|NM_013265.4" HGNC:1172 HGNC:56433 VPS51P1 VPS51 pseudogene 1 pseudogene pseudogene Approved 16p13.3 16p13.3 2022-10-19 2022-10-19 127379701 ENSG00000260431 NG_115701 PGOHUM00000293697 HGNC:56434 VPS51P2 VPS51 pseudogene 2 pseudogene pseudogene Approved 7q21.3 07q21.3 2022-10-19 2022-10-19 127379702 ENSG00000232097 PGOHUM00000302353 @@ -42104,38 +42106,38 @@ HGNC:56449 VPS51P17 VPS51 pseudogene 17 pseudogene pseudogene Approved 11q13.2 1 HGNC:56450 VPS51P18 VPS51 pseudogene 18 pseudogene pseudogene Approved 4p16.1 04p16.1 2022-10-19 2022-10-19 127379732 ENSG00000249443 NG_115718 PGOHUM00000300142 HGNC:56451 VPS51P19 VPS51 pseudogene 19 pseudogene pseudogene Approved 8p23.1 08p23.1 2022-10-19 2022-10-19 127379711 ENSG00000254581 NG_115708 PGOHUM00000303109 HGNC:10518 VPS52 VPS52 subunit of GARP complex protein-coding gene gene with protein product Approved 6p21.32 06p21.32 ARE1 SACM2L "SAC2 suppressor of actin mutations 2-like (yeast)|vacuolar protein sorting 52 (yeast)|vacuolar protein sorting 52 homolog (S. cerevisiae)|VPS52, GARP complex subunit" "Endosome-associated recycling protein (EARP) complex|Golgi associated retrograde protein (GARP) complex" "1423|1424" 1998-03-25 2003-09-05 2019-01-25 2023-01-20 6293 ENSG00000223501 OTTHUMG00000031276 uc011izy.4 AJ223319 NM_022553 CCDS4770 Q8N1B4 "9790748|15878329" MGI:1330304 RGD:3618 603443 HGNC:10518 "ENST00000445902.3|NM_022553.6" -HGNC:25608 VPS53 VPS53 subunit of GARP complex protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ10979|HCCS1" hepatocellular carcinoma suppressor 1 "vacuolar protein sorting 53 (yeast)|vacuolar protein sorting 53 homolog (S. cerevisiae)|VPS53, GARP complex subunit" "Endosome-associated recycling protein (EARP) complex|Golgi associated retrograde protein (GARP) complex" "1423|1424" 2005-11-29 2019-01-25 2023-01-20 55275 ENSG00000141252 OTTHUMG00000177441 uc002frm.3 NM_018289 "CCDS92214|CCDS10995|CCDS45558" Q5VIR6 15878329 MGI:1915549 RGD:1311391 615850 401564 HGNC:25608 "ENST00000437048.7|NM_001128159.3" HGNC:25608 -HGNC:18652 VPS54 VPS54 subunit of GARP complex protein-coding gene gene with protein product Approved 2p15-p14 02p15-p14 "HCC8|PPP1R164" protein phosphatase 1, regulatory subunit 164 "vacuolar protein sorting 54 (yeast)|vacuolar protein sorting 54 homolog (S. cerevisiae)|VPS54, GARP complex subunit" "Protein phosphatase 1 regulatory subunits|Golgi associated retrograde protein (GARP) complex" "694|1424" 2003-09-04 2019-01-25 2023-01-20 51542 ENSG00000143952 OTTHUMG00000152627 uc002scq.4 AF102177 NM_016516 "CCDS33208|CCDS46302" Q9P1Q0 "12039048|15878329" MGI:2178798 RGD:628718 614633 HGNC:18652 "ENST00000272322.9|NM_016516.3" +HGNC:25608 VPS53 VPS53 subunit of GARP complex protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ10979|HCCS1" hepatocellular carcinoma suppressor 1 "vacuolar protein sorting 53 (yeast)|vacuolar protein sorting 53 homolog (S. cerevisiae)|VPS53, GARP complex subunit" "Endosome-associated recycling protein (EARP) complex|Golgi associated retrograde protein (GARP) complex" "1423|1424" 2005-11-29 2019-01-25 2023-01-20 55275 ENSG00000141252 OTTHUMG00000177441 uc002frm.3 NM_018289 "CCDS10995|CCDS92214|CCDS45558" Q5VIR6 15878329 MGI:1915549 RGD:1311391 615850 401564 HGNC:25608 "ENST00000437048.7|NM_001128159.3" HGNC:25608 +HGNC:18652 VPS54 VPS54 subunit of GARP complex protein-coding gene gene with protein product Approved 2p15-p14 02p15-p14 "HCC8|PPP1R164" protein phosphatase 1, regulatory subunit 164 "vacuolar protein sorting 54 (yeast)|vacuolar protein sorting 54 homolog (S. cerevisiae)|VPS54, GARP complex subunit" "Protein phosphatase 1 regulatory subunits|Golgi associated retrograde protein (GARP) complex" "694|1424" 2003-09-04 2019-01-25 2023-01-20 51542 ENSG00000143952 OTTHUMG00000152627 uc002scq.4 AF102177 NM_016516 "CCDS46302|CCDS33208" Q9P1Q0 "12039048|15878329" MGI:2178798 RGD:628718 614633 HGNC:18652 "ENST00000272322.9|NM_016516.3" HGNC:11644 VPS72 vacuolar protein sorting 72 homolog protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "YL-1|YL1|Swc2" TCFL1 "transcription factor-like 1|vacuolar protein sorting 72 (yeast)|vacuolar protein sorting 72 homolog (S. cerevisiae)" "SRCAP complex|Tip60/Nua4 histone acetyltransferase complex subunits" "1329|1634" 1995-12-08 2005-09-08 2016-04-05 2023-01-20 6944 ENSG00000163159 OTTHUMG00000012345 uc001exe.3 D43642 NM_005997 "CCDS989|CCDS59201" Q15906 7702631 MGI:1202305 RGD:1306121 600607 HGNC:11644 "ENST00000368892.9|NM_005997.3" -HGNC:12718 VRK1 VRK serine/threonine kinase 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 vaccinia related kinase 1 1997-06-12 2018-08-16 2023-01-20 7443 ENSG00000100749 OTTHUMG00000171459 uc001yft.4 AB000449 NM_003384 "CCDS91929|CCDS91928|CCDS9947" Q99986 9344656 MGI:1261847 RGD:1306069 602168 208345 objectId:2275 HGNC:12718 "ENST00000216639.8|NM_003384.3" HGNC:12718 -HGNC:12719 VRK2 VRK serine/threonine kinase 2 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 vaccinia related kinase 2 1997-06-12 2018-08-16 2023-01-20 7444 ENSG00000028116 OTTHUMG00000129348 uc002rzo.3 AK058199 NM_006296 "CCDS1859|CCDS46292|CCDS46293|CCDS46291" Q86Y07 MGI:1917172 RGD:1311585 602169 objectId:2276 HGNC:12719 "ENST00000340157.9|NM_006296.7" -HGNC:18996 VRK3 VRK serine/threonine kinase 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 vaccinia related kinase 3 2003-08-18 2018-08-16 2023-01-20 51231 ENSG00000105053 OTTHUMG00000183053 uc002prg.3 AB031052 NM_016440 "CCDS12791|CCDS77334|CCDS33076" Q8IV63 "19141289|25899223" MGI:2182465 RGD:1549692 619771 objectId:2277 HGNC:18996 "ENST00000316763.8|NM_016440.4" +HGNC:12718 VRK1 VRK serine/threonine kinase 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 vaccinia related kinase 1 1997-06-12 2018-08-16 2023-01-20 7443 ENSG00000100749 OTTHUMG00000171459 uc001yft.4 AB000449 NM_003384 "CCDS91928|CCDS91929|CCDS9947" Q99986 9344656 MGI:1261847 RGD:1306069 602168 208345 objectId:2275 HGNC:12718 "ENST00000216639.8|NM_003384.3" HGNC:12718 +HGNC:12719 VRK2 VRK serine/threonine kinase 2 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 vaccinia related kinase 2 1997-06-12 2018-08-16 2023-01-20 7444 ENSG00000028116 OTTHUMG00000129348 uc002rzo.3 AK058199 NM_006296 "CCDS1859|CCDS46293|CCDS46291|CCDS46292" Q86Y07 MGI:1917172 RGD:1311585 602169 objectId:2276 HGNC:12719 "ENST00000340157.9|NM_006296.7" +HGNC:18996 VRK3 VRK serine/threonine kinase 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 vaccinia related kinase 3 2003-08-18 2018-08-16 2023-01-20 51231 ENSG00000105053 OTTHUMG00000183053 uc002prg.3 AB031052 NM_016440 "CCDS12791|CCDS33076|CCDS77334" Q8IV63 "19141289|25899223" MGI:2182465 RGD:1549692 619771 objectId:2277 HGNC:18996 "ENST00000316763.8|NM_016440.4" HGNC:20223 VRTN vertebrae development associated protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ10811|vertnin" C14orf115 "chromosome 14 open reading frame 115|vertebrae development homolog (pig)" 2003-01-15 2010-10-20 2012-12-07 2023-01-20 55237 ENSG00000133980 OTTHUMG00000171208 uc001xpw.5 AK001673 NM_018228 CCDS9830 Q9H8Y1 21232157 MGI:3588197 RGD:1587174 HGNC:20223 "ENST00000256362.5|NM_018228.3" -HGNC:28675 VSIG1 V-set and immunoglobulin domain containing 1 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "MGC44287|GPA34" glycoprotein A34 "V-set domain containing|IgCAM CXADR-related subfamily" "590|1414" 2004-09-02 2023-01-20 340547 ENSG00000101842 OTTHUMG00000022175 uc004eno.4 BX648658 NM_182607 "CCDS14535|CCDS55474" Q86XK7 "20957455|28603843" MGI:1926039 RGD:1565570 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VSIG1 300620 HGNC:28675 "ENST00000217957.10|NM_182607.5" -HGNC:17149 VSIG2 V-set and immunoglobulin domain containing 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "CTXL|CTH" "V-set domain containing|I-set domain containing|IgCAM CXADR-related subfamily" "590|593|1414" 2004-09-02 2023-01-20 23584 ENSG00000019102 OTTHUMG00000150357 uc001qas.4 AF061022 NM_014312 "CCDS86258|CCDS8452" Q96IQ7 9862345 MGI:1928009 RGD:1561274 606011 HGNC:17149 "ENST00000326621.10|NM_014312.5" -HGNC:17032 VSIG4 V-set and immunoglobulin domain containing 4 protein-coding gene gene with protein product Approved Xq12 Xq12 "Z39IG|CRIg" complement receptor of the immunoglobulin superfamily "V-set domain containing|Complement system regulators and receptors" "590|1639" 2004-09-10 2023-01-20 11326 ENSG00000155659 OTTHUMG00000021727 uc004dwh.3 AJ132502 NM_007268 "CCDS55435|CCDS14383|CCDS48132" Q9Y279 "11004523|17016555|17016562" MGI:2679720 RGD:1564659 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VSIG4 300353 HGNC:17032 "ENST00000374737.9|NM_007268.3" +HGNC:28675 VSIG1 V-set and immunoglobulin domain containing 1 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "MGC44287|GPA34" glycoprotein A34 "V-set domain containing|IgCAM CXADR-related subfamily" "590|1414" 2004-09-02 2023-01-20 340547 ENSG00000101842 OTTHUMG00000022175 uc004eno.4 BX648658 NM_182607 "CCDS55474|CCDS14535" Q86XK7 "20957455|28603843" MGI:1926039 RGD:1565570 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VSIG1 300620 HGNC:28675 "ENST00000217957.10|NM_182607.5" +HGNC:17149 VSIG2 V-set and immunoglobulin domain containing 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "CTXL|CTH" "V-set domain containing|I-set domain containing|IgCAM CXADR-related subfamily" "590|593|1414" 2004-09-02 2023-01-20 23584 ENSG00000019102 OTTHUMG00000150357 uc001qas.4 AF061022 NM_014312 "CCDS8452|CCDS86258" Q96IQ7 9862345 MGI:1928009 RGD:1561274 606011 HGNC:17149 "ENST00000326621.10|NM_014312.5" +HGNC:17032 VSIG4 V-set and immunoglobulin domain containing 4 protein-coding gene gene with protein product Approved Xq12 Xq12 "Z39IG|CRIg" complement receptor of the immunoglobulin superfamily "V-set domain containing|Complement system regulators and receptors" "590|1639" 2004-09-10 2023-01-20 11326 ENSG00000155659 OTTHUMG00000021727 uc004dwh.3 AJ132502 NM_007268 "CCDS48132|CCDS14383|CCDS55435" Q9Y279 "11004523|17016555|17016562" MGI:2679720 RGD:1564659 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VSIG4 300353 HGNC:17032 "ENST00000374737.9|NM_007268.3" HGNC:32063 VSIG8 V-set and immunoglobulin domain containing 8 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "V-set domain containing|IgCAM CXADR-related subfamily" "590|1414" 2005-12-01 2023-01-20 391123 ENSG00000243284 OTTHUMG00000168834 uc001fuh.3 NM_001013661 CCDS30913 P0DPA2 MGI:3642995 RGD:1562464 HGNC:32063 "ENST00000368100.1|NM_001013661.1" HGNC:26078 VSIG10 V-set and immunoglobulin domain containing 10 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "V-set domain containing|I-set domain containing" "590|593" 2009-09-09 2023-01-20 54621 ENSG00000176834 OTTHUMG00000168835 uc001tws.4 NM_019086 CCDS44992 Q8N0Z9 26458842 MGI:2448533 RGD:1565800 HGNC:26078 "ENST00000359236.10|NM_019086.6" HGNC:27111 VSIG10L V-set and immunoglobulin domain containing 10 like protein-coding gene gene with protein product Approved 19q13.41 19q13.41 Immunoglobulin like domain containing 594 2009-09-09 2023-01-20 147645 ENSG00000186806 OTTHUMG00000182975 uc002pwf.4 NM_001163922 CCDS54300 Q86VR7 27467440 MGI:1922940 RGD:1564982 617740 HGNC:27111 "ENST00000335624.5|NM_001163922.3" -HGNC:55282 VSIG10L-AS1 VSIG10L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2020-10-09 2020-10-09 118827807 ENSG00000267905 +HGNC:55282 VSIG10L-AS1 VSIG10L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2020-10-09 2020-10-09 118827807 ENSG00000267905 NR_186316 HGNC:27879 VSIG10L2 V-set and immunoglobulin domain containing 10 like 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 2017-03-31 2023-01-20 338667 ENSG00000283703 OTTHUMG00000165861 NM_001365077 CCDS91619 P0DP72 12477932 MGI:2685959 RGD:11474175 HGNC:27879 "ENST00000686984.1|NM_001365077.2" HGNC:30085 VSIR V-set immunoregulatory receptor protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "SISP1|GI24|B7-H5|B7H5|VISTA|PD-1H|Dies1" "stress induced secreted protein 1|V-domain Ig suppressor of T cell activation|PDCD1 homolog" C10orf54 chromosome 10 open reading frame 54 "V-set domain containing|B7 family" "590|1824" 2005-10-06 2016-11-24 2016-11-24 2023-01-20 64115 ENSG00000107738 OTTHUMG00000018426 uc001jsd.5 AF193048 NM_022153 CCDS31218 Q9H7M9 "12975309|24691993|25279955" MGI:1921298 RGD:1590938 615608 objectId:2956 HGNC:30085 "ENST00000394957.8|NM_022153.2" HGNC:12722 VSNL1 visinin like 1 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 "VILIP|HPCAL3|HUVISL1|HLP3|VILIP-1" hippocalcin-like protein 3 EF-hand domain containing 863 1994-11-02 2015-11-12 2023-01-20 7447 ENSG00000163032 OTTHUMG00000090645 uc061gwj.1 NM_003385 CCDS1689 P62760 "8530085|2202488" MGI:1349453 RGD:3966 600817 HGNC:12722 "ENST00000295156.9|NM_003385.5" -HGNC:29455 VSTM1 V-set and transmembrane domain containing 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 UNQ3033 Immunoglobulin like domain containing 594 2006-08-02 2023-01-20 284415 ENSG00000189068 OTTHUMG00000064906 uc002qcw.5 AY358542 NM_198481 "CCDS74442|CCDS12872|CCDS74441" Q6UX27 12975309 RGD:2322891 616804 HGNC:29455 "ENST00000338372.7|NM_198481.4" -HGNC:28499 VSTM2A V-set and transmembrane domain containing 2A protein-coding gene gene with protein product Approved 7p11.2 07p11.2 MGC33530 VSTM2 V-set and transmembrane domain containing 2 V-set domain containing 590 2006-09-12 2007-08-10 2007-08-10 2023-01-20 222008 ENSG00000170419 OTTHUMG00000129271 uc010kzf.4 BC028404 NM_182546 "CCDS75604|CCDS83185|CCDS5512" Q8TAG5 28052263 MGI:2384826 RGD:1596197 HGNC:28499 "ENST00000402613.4|NM_001301009.2" +HGNC:29455 VSTM1 V-set and transmembrane domain containing 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 UNQ3033 Immunoglobulin like domain containing 594 2006-08-02 2023-01-20 284415 ENSG00000189068 OTTHUMG00000064906 uc002qcw.5 AY358542 NM_198481 "CCDS74442|CCDS74441|CCDS12872" Q6UX27 12975309 RGD:2322891 616804 HGNC:29455 "ENST00000338372.7|NM_198481.4" +HGNC:28499 VSTM2A V-set and transmembrane domain containing 2A protein-coding gene gene with protein product Approved 7p11.2 07p11.2 MGC33530 VSTM2 V-set and transmembrane domain containing 2 V-set domain containing 590 2006-09-12 2007-08-10 2007-08-10 2023-01-20 222008 ENSG00000170419 OTTHUMG00000129271 uc010kzf.4 BC028404 NM_182546 "CCDS75604|CCDS5512|CCDS83185" Q8TAG5 28052263 MGI:2384826 RGD:1596197 HGNC:28499 "ENST00000402613.4|NM_001301009.2" HGNC:50770 VSTM2A-OT1 VSTM2A overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Overlapping transcripts 1988 2014-06-18 2014-06-18 285878 ENSG00000224223 OTTHUMG00000156070 NR_038994 VSTM2A-OT1 HGNC:50770 HGNC:33595 VSTM2B V-set and transmembrane domain containing 2B protein-coding gene gene with protein product Approved 19q12 19q12 V-set domain containing 590 2007-08-10 2023-01-20 342865 ENSG00000187135 OTTHUMG00000182002 uc010xrl.2 NM_001146339 CCDS46034 A6NLU5 MGI:1914525 RGD:1306235 HGNC:33595 "ENST00000335523.8|NM_001146339.2" HGNC:27615 VSTM2B-DT VSTM2B divergent transcript non-coding RNA RNA, long non-coding Approved 19q12 19q12 Divergent transcripts 1990 2020-10-21 2020-10-21 2020-10-21 284395 ENSG00000264515 NR_040029 HGNC:16096 VSTM2L V-set and transmembrane domain containing 2 like protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ1118M15.2 C20orf102 chromosome 20 open reading frame 102 V-set domain containing 590 2001-07-17 2007-08-10 2007-08-10 2023-01-20 128434 ENSG00000132821 OTTHUMG00000032430 uc002xhk.5 AL109964 NM_080607 CCDS13299 Q96N03 MGI:2685537 RGD:1305725 616537 HGNC:16096 "ENST00000373461.9|NM_080607.3" -HGNC:26470 VSTM4 V-set and transmembrane domain containing 4 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 FLJ31737 C10orf72 chromosome 10 open reading frame 72 V-set domain containing 590 2004-02-05 2011-07-01 2011-07-01 2023-01-20 196740 ENSG00000165633 OTTHUMG00000018184 uc001jhf.4 BC041414 NM_144984 "CCDS7228|CCDS31198" Q8IW00 MGI:2444633 RGD:1310423 HGNC:26470 "ENST00000332853.9|NM_001031746.5" +HGNC:26470 VSTM4 V-set and transmembrane domain containing 4 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 FLJ31737 C10orf72 chromosome 10 open reading frame 72 V-set domain containing 590 2004-02-05 2011-07-01 2011-07-01 2023-01-20 196740 ENSG00000165633 OTTHUMG00000018184 uc001jhf.4 BC041414 NM_144984 "CCDS31198|CCDS7228" Q8IW00 MGI:2444633 RGD:1310423 HGNC:26470 "ENST00000332853.9|NM_001031746.5" HGNC:34443 VSTM5 V-set and transmembrane domain containing 5 protein-coding gene gene with protein product Approved 11q21 11q21 LOC387804 C11orf90 chromosome 11 open reading frame 90 V-set domain containing 590 2008-09-16 2011-07-01 2011-07-01 2023-01-20 387804 ENSG00000214376 OTTHUMG00000154159 uc010ruc.2 NM_001144871 CCDS44709 A8MXK1 16554811 MGI:1916387 RGD:1563328 HGNC:34443 "ENST00000409977.2|NM_001144871.2" -HGNC:12723 VSX1 visual system homeobox 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "PPD|PPCD1" PPCD "posterior polymorphous corneal dystrophy|visual system homeobox 1 homolog, CHX10-like (zebrafish)" PRD class homeoboxes and pseudogenes 521 2000-03-14 2007-07-12 2023-01-20 30813 ENSG00000100987 OTTHUMG00000032111 uc002wuf.5 AF176797 NM_001256271 "CCDS13168|CCDS58766|CCDS58767|CCDS13169" Q9NZR4 10673340 MGI:1890816 RGD:1305667 605020 8525 120483 HGNC:12723 "ENST00000376709.9|NM_014588.6" HGNC:12723 +HGNC:12723 VSX1 visual system homeobox 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "PPD|PPCD1" PPCD "posterior polymorphous corneal dystrophy|visual system homeobox 1 homolog, CHX10-like (zebrafish)" PRD class homeoboxes and pseudogenes 521 2000-03-14 2007-07-12 2023-01-20 30813 ENSG00000100987 OTTHUMG00000032111 uc002wuf.5 AF176797 NM_001256271 "CCDS13169|CCDS58766|CCDS58767|CCDS13168" Q9NZR4 10673340 MGI:1890816 RGD:1305667 605020 8525 120483 HGNC:12723 "ENST00000376709.9|NM_014588.6" HGNC:12723 HGNC:1975 VSX2 visual system homeobox 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 RET1 "HOX10|CHX10" "C elegans ceh-10 homeo domain-containing homolog|ceh-10 homeo domain containing homolog (C. elegans)|ceh-10 homeodomain containing homolog (C. elegans)" PRD class homeoboxes and pseudogenes 521 1990-01-17 2007-08-21 2007-08-21 2023-01-20 338917 ENSG00000119614 OTTHUMG00000171206 uc001xpq.3 AC005519 NM_182894 CCDS9827 P58304 1973146 MGI:88401 RGD:621215 142993 8559 159362 HGNC:1975 "ENST00000261980.3|NM_182894.3" HGNC:1975 -HGNC:20954 VTA1 vesicle trafficking 1 protein-coding gene gene with protein product Approved 6q24.1-q24.2 06q24.1-q24.2 "HSPC228|My012" C6orf55 "chromosome 6 open reading frame 55|Vps20-associated 1 homolog (S. cerevisiae)|vesicle (multivesicular body) trafficking 1" ESCRT-IV 1120 2003-04-24 2007-04-03 2016-04-04 2023-01-20 51534 ENSG00000009844 OTTHUMG00000015707 uc003qiw.5 AF060225 NM_016485 "CCDS5197|CCDS75531|CCDS69214" Q9NP79 "11489251|15644320" MGI:1913451 RGD:1305031 610902 HGNC:20954 "ENST00000367630.9|NM_016485.5" +HGNC:20954 VTA1 vesicle trafficking 1 protein-coding gene gene with protein product Approved 6q24.1-q24.2 06q24.1-q24.2 "HSPC228|My012" C6orf55 "chromosome 6 open reading frame 55|Vps20-associated 1 homolog (S. cerevisiae)|vesicle (multivesicular body) trafficking 1" ESCRT-IV 1120 2003-04-24 2007-04-03 2016-04-04 2023-01-20 51534 ENSG00000009844 OTTHUMG00000015707 uc003qiw.5 AF060225 NM_016485 "CCDS75531|CCDS69214|CCDS5197" Q9NP79 "11489251|15644320" MGI:1913451 RGD:1305031 610902 HGNC:20954 "ENST00000367630.9|NM_016485.5" HGNC:50483 VTA1P1 vesicle trafficking 1 pseudogene 1 pseudogene pseudogene Approved 6q27 06q27 vesicle (multivesicular body) trafficking 1 pseudogene 1 2014-05-06 2016-12-14 2016-12-14 106481708 ENSG00000224999 OTTHUMG00000045407 NG_043284 PGOHUM00000243461 HGNC:50483 HGNC:50484 VTA1P2 vesicle trafficking 1 pseudogene 2 pseudogene pseudogene Approved 8q21.3 08q21.3 vesicle (multivesicular body) trafficking 1 pseudogene 2 2014-05-06 2016-12-14 2016-12-14 100128412 ENSG00000253401 OTTHUMG00000163765 NG_022395 PGOHUM00000249422 HGNC:50484 -HGNC:28873 VTCN1 V-set domain containing T cell activation inhibitor 1 protein-coding gene gene with protein product Approved 1p13.1-p12 01p13.1-p12 "B7-H4|FLJ22418|B7S1|B7x|B7H4" "B7 family member, H4|B7 superfamily member 1" "V-set domain containing|B7 family" "590|1824" 2005-02-25 2017-12-06 2023-01-20 79679 ENSG00000134258 OTTHUMG00000012118 uc001ehb.4 BX648021 NM_024626 "CCDS58019|CCDS58020|CCDS894" Q7Z7D3 "12818165|12818166" MGI:3039619 RGD:1311204 608162 HGNC:28873 "ENST00000369458.8|NM_024626.4" -HGNC:17792 VTI1A vesicle transport through interaction with t-SNAREs 1A protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "MVti1|Vti1-rp2" vesicle transport through interaction with t-SNAREs homolog 1A (yeast) "SNAREs|MicroRNA protein coding host genes" "1124|1691" 2002-11-22 2012-12-10 2023-01-20 143187 ENSG00000151532 OTTHUMG00000019063 uc001kzz.5 BC017052 NM_001318203 "CCDS91347|CCDS7575|CCDS91346" Q96AJ9 9446565 MGI:1855699 RGD:621490 614316 HGNC:17792 "ENST00000393077.3|NM_145206.4" +HGNC:28873 VTCN1 V-set domain containing T cell activation inhibitor 1 protein-coding gene gene with protein product Approved 1p13.1-p12 01p13.1-p12 "B7-H4|FLJ22418|B7S1|B7x|B7H4" "B7 family member, H4|B7 superfamily member 1" "V-set domain containing|B7 family" "590|1824" 2005-02-25 2017-12-06 2023-01-20 79679 ENSG00000134258 OTTHUMG00000012118 uc001ehb.4 BX648021 NM_024626 "CCDS894|CCDS58019|CCDS58020" Q7Z7D3 "12818165|12818166" MGI:3039619 RGD:1311204 608162 HGNC:28873 "ENST00000369458.8|NM_024626.4" +HGNC:17792 VTI1A vesicle transport through interaction with t-SNAREs 1A protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "MVti1|Vti1-rp2" vesicle transport through interaction with t-SNAREs homolog 1A (yeast) "SNAREs|MicroRNA protein coding host genes" "1124|1691" 2002-11-22 2012-12-10 2023-01-20 143187 ENSG00000151532 OTTHUMG00000019063 uc001kzz.5 BC017052 NM_001318203 "CCDS91346|CCDS91347|CCDS7575" Q96AJ9 9446565 MGI:1855699 RGD:621490 614316 HGNC:17792 "ENST00000393077.3|NM_145206.4" HGNC:17793 VTI1B vesicle transport through interaction with t-SNAREs 1B protein-coding gene gene with protein product Approved 14q24.1 14q24.1 VTI2 vesicle transport through interaction with t-SNAREs homolog 1B (yeast) SNAREs 1124 2002-11-22 2012-12-10 2023-01-20 10490 ENSG00000100568 OTTHUMG00000171251 uc001xjt.4 AF060902 NM_006370 CCDS9786 Q9UEU0 "9636656|9446565" MGI:1855688 RGD:2323682 603207 HGNC:17793 "ENST00000554659.6|NM_006370.3" HGNC:43727 VTI1BP1 vesicle transport through interaction with t-SNAREs 1B pseudogene 1 pseudogene pseudogene Approved 3q12.1 03q12.1 vesicle transport through interaction with t-SNAREs homolog 1B (yeast) pseudogene 1 2012-02-10 2012-12-10 2012-12-10 391559 ENSG00000243974 OTTHUMG00000159057 NG_022260 PGOHUM00000238116 HGNC:43727 HGNC:43728 VTI1BP2 vesicle transport through interaction with t-SNAREs 1B pseudogene 2 pseudogene pseudogene Approved 4q35.1 04q35.1 vesicle transport through interaction with t-SNAREs homolog 1B (yeast) pseudogene 2 2012-02-10 2012-12-10 2012-12-10 389246 ENSG00000213434 OTTHUMG00000160629 NG_005181 PGOHUM00000246153 HGNC:43728 @@ -42154,13 +42156,13 @@ HGNC:27088 VWA3A von Willebrand factor A domain containing 3A protein-coding gen HGNC:28385 VWA3B von Willebrand factor A domain containing 3B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "DKFZp686F2227|MGC26733" 2007-08-14 2023-01-20 200403 ENSG00000168658 OTTHUMG00000153104 uc002syo.4 AL832761 NM_144992 CCDS42718 Q502W6 26157035 MGI:1918103 RGD:1562560 614884 HGNC:28385 "ENST00000477737.6|NM_144992.5" HGNC:28385 HGNC:6658 VWA5A von Willebrand factor A domain containing 5A protein-coding gene gene with protein product Approved 11q24.2 11q24.2 BCSC-1 LOH11CR2A loss of heterozygosity, 11, chromosomal region 2, gene A 1997-08-28 2008-07-25 2008-07-25 2023-01-20 4013 ENSG00000110002 OTTHUMG00000165971 uc001pzu.4 AF002672 NM_014622 "CCDS8445|CCDS8444" O00534 "9417908|14504409" MGI:1915026 RGD:735145 602929 HGNC:6658 "ENST00000456829.7|NM_001130142.2" HGNC:26538 VWA5B1 von Willebrand factor A domain containing 5B1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 FLJ32784 2008-07-25 2023-03-15 127731 ENSG00000158816 OTTHUMG00000002835 uc057cyt.1 "AK125833|AK057346" NM_001039500 Q5TIE3 MGI:1922968 RGD:1308559 HGNC:26538 "ENST00000289815.13|NM_001039500.3" -HGNC:25144 VWA5B2 von Willebrand factor A domain containing 5B2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "DKFZp761K032|LOC90113" MicroRNA protein coding host genes 1691 2008-07-25 2008-07-25 2023-01-20 90113 ENSG00000145198 OTTHUMG00000156820 uc011bra.3 NM_138345 "CCDS82881|CCDS54686" Q8N398 15231747 MGI:2681859 RGD:1564491 HGNC:25144 "ENST00000691901.1|NM_001390846.1" +HGNC:25144 VWA5B2 von Willebrand factor A domain containing 5B2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "DKFZp761K032|LOC90113" MicroRNA protein coding host genes 1691 2008-07-25 2008-07-25 2023-01-20 90113 ENSG00000145198 OTTHUMG00000156820 uc011bra.3 NM_138345 "CCDS54686|CCDS82881" Q8N398 15231747 MGI:2681859 RGD:1564491 HGNC:25144 "ENST00000691901.1|NM_001390846.1" HGNC:13939 VWA7 von Willebrand factor A domain containing 7 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G7c|NG37" C6orf27 chromosome 6 open reading frame 27 2002-04-05 2011-12-13 2011-12-13 2023-01-20 80737 ENSG00000204396 OTTHUMG00000031132 uc011dog.3 NM_025258 CCDS4721 Q9Y334 MGI:1306798 RGD:1303137 609693 HGNC:13939 "ENST00000375688.5|NM_025258.3" -HGNC:29071 VWA8 von Willebrand factor A domain containing 8 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 P7BP2 Pex7p-binding protein 2 KIAA0564 KIAA0564 MicroRNA protein coding host genes 1691 2007-12-06 2012-08-02 2012-08-02 2023-01-20 23078 ENSG00000102763 OTTHUMG00000016799 uc001uyk.4 AB011136 NM_015058 "CCDS31963|CCDS41881" A3KMH1 "9628581|30204880" MGI:1919008 RGD:1308772 617509 HGNC:29071 "ENST00000379310.8|NM_015058.2" +HGNC:29071 VWA8 von Willebrand factor A domain containing 8 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 P7BP2 Pex7p-binding protein 2 KIAA0564 KIAA0564 MicroRNA protein coding host genes 1691 2007-12-06 2012-08-02 2012-08-02 2023-01-20 23078 ENSG00000102763 OTTHUMG00000016799 uc001uyk.4 AB011136 NM_015058 "CCDS41881|CCDS31963" A3KMH1 "9628581|30204880" MGI:1919008 RGD:1308772 617509 HGNC:29071 "ENST00000379310.8|NM_015058.2" HGNC:44270 VWA8-AS1 VWA8 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 "VWA8 antisense RNA 1 (non-protein coding)|VWA8 antisense RNA 1" Antisense RNAs 1987 2012-08-02 2012-08-16 2012-10-12 100507240 ENSG00000278338 OTTHUMG00000187366 uc021rix.1 "AK092199|CA310831" NR_039974 VWA8-AS1 HGNC:44270 HGNC:44271 VWA8P1 von Willebrand factor A domain containing 8 pseudogene 1 pseudogene pseudogene Approved 5q13.1 05q13.1 2012-08-02 2012-08-02 106480787 ENSG00000250289 OTTHUMG00000162334 NG_044066 PGOHUM00000235248 HGNC:44271 HGNC:30200 VWC2 von Willebrand factor C domain containing 2 protein-coding gene gene with protein product Approved 7p12.2 07p12.2 "PSST739|UNQ739" "brorin|brain-specific chordin-like" Chordin family 1661 2006-08-04 2023-01-20 375567 ENSG00000188730 OTTHUMG00000129265 uc003tot.2 AY358393 NM_198570 CCDS5508 Q2TAL6 17400546 MGI:2442987 RGD:1589624 611108 HGNC:30200 "ENST00000340652.5|NM_198570.5" -HGNC:37203 VWC2L von Willebrand factor C domain containing 2 like protein-coding gene gene with protein product Approved 2q34-q35 02q34-q35 brorin-like von Willebrand factor C domain-containing protein 2-like Chordin family 1661 2009-09-22 2018-08-09 2023-01-20 402117 ENSG00000174453 OTTHUMG00000154811 uc002vet.3 AB374231 NM_001080500 "CCDS86917|CCDS46509" B2RUY7 22209847 MGI:2444069 RGD:1565501 619794 HGNC:37203 "ENST00000312504.10|NM_001080500.4" +HGNC:37203 VWC2L von Willebrand factor C domain containing 2 like protein-coding gene gene with protein product Approved 2q34-q35 02q34-q35 brorin-like von Willebrand factor C domain-containing protein 2-like Chordin family 1661 2009-09-22 2018-08-09 2023-01-20 402117 ENSG00000174453 OTTHUMG00000154811 uc002vet.3 AB374231 NM_001080500 "CCDS46509|CCDS86917" B2RUY7 22209847 MGI:2444069 RGD:1565501 619794 HGNC:37203 "ENST00000312504.10|NM_001080500.4" HGNC:41508 VWC2L-IT1 VWC2L intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 VWC2L intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100885780 ENSG00000224257 OTTHUMG00000154819 uc031rrf.2 NR_047698 VWC2L-IT1 HGNC:41508 HGNC:26487 VWCE von Willebrand factor C and EGF domains protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "URG11|FLJ32009|VWC1" Cysteine rich transmembrane BMP regulators 1660 2006-01-24 2023-01-20 220001 ENSG00000167992 OTTHUMG00000168208 uc001nra.4 AK056571 NM_152718 CCDS8002 Q96DN2 12869306 MGI:1919018 RGD:1309910 611115 HGNC:26487 "ENST00000335613.10|NM_152718.2" HGNC:21897 VWDE von Willebrand factor D and EGF domains protein-coding gene gene with protein product Approved 7p21.3 07p21.3 FLJ14712 2008-08-11 2023-01-20 221806 ENSG00000146530 OTTHUMG00000152315 uc003ssj.3 NM_001135924 CCDS47544 Q8N2E2 "14702039|16303743" MGI:2685313 RGD:1561223 HGNC:21897 "ENST00000275358.8|NM_001135924.3" @@ -42175,14 +42177,14 @@ HGNC:23293 WAPL WAPL cohesin release factor protein-coding gene gene with protei HGNC:55805 WAPL-DT WAPL divergent transcript non-coding RNA RNA, long non-coding Approved 10q23.2 10q23.2 Divergent transcripts 1990 2021-07-29 2021-07-29 122152326 ENSG00000227896 HGNC:12729 WARS1 tryptophanyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 IFP53 tryptophan tRNA ligase 1, cytoplasmic "IFI53|WARS" tryptophanyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 2001-06-22 2019-07-15 2019-07-15 2023-01-20 7453 ENSG00000140105 OTTHUMG00000171572 uc001yhl.2 M61715 NM_004184 "CCDS9961|CCDS9960" P23381 "1537332|1763065" MGI:104630 RGD:1308278 191050 6.1.1.2 HGNC:12729 "ENST00000392882.7|NM_004184.4" HGNC:12729 HGNC:50482 WARS1P1 tryptophanyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 WARSP1 tryptophanyl-tRNA synthetase pseudogene 1 2014-05-06 2019-07-15 2019-07-15 2019-07-15 341112 ENSG00000225802 OTTHUMG00000167476 NG_050634 PGOHUM00000261835 HGNC:50482 -HGNC:12730 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1p12 01p12 mtTrpRS tryptophan tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 1999-06-11 2007-02-23 2023-01-20 10352 ENSG00000116874 OTTHUMG00000012335 uc001ehn.4 BC021722 NM_015836 "CCDS30817|CCDS900" Q9UGM6 "10072595|10828066" MGI:1917810 RGD:1593417 604733 471324 6.1.1.2 HGNC:12730 "ENST00000235521.5|NM_015836.4" HGNC:12730 +HGNC:12730 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1p12 01p12 mtTrpRS tryptophan tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 1999-06-11 2007-02-23 2023-01-20 10352 ENSG00000116874 OTTHUMG00000012335 uc001ehn.4 BC021722 NM_015836 "CCDS900|CCDS30817" Q9UGM6 "10072595|10828066" MGI:1917810 RGD:1593417 604733 471324 6.1.1.2 HGNC:12730 "ENST00000235521.5|NM_015836.4" HGNC:12730 HGNC:40612 WARS2-AS1 WARS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p12 01p12 Antisense RNAs 1987 2018-09-26 2018-09-26 101929147 ENSG00000231365 OTTHUMG00000012342 NR_125974 HGNC:40612 HGNC:41393 WARS2-IT1 WARS2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p12 01p12 WARS2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 104472716 ENSG00000224238 OTTHUMG00000012341 uc057juy.1 NR_126447 WARS2-IT1 HGNC:41393 HGNC:45116 WARS2P1 tryptophanyl tRNA synthetase 2 pseudogene 1 pseudogene pseudogene Approved 10q23.1 10q23.1 2013-02-15 2013-02-15 100421633 ENSG00000227209 OTTHUMG00000018622 NG_025451 PGOHUM00000258497 HGNC:45116 HGNC:12731 WAS WASP actin nucleation promoting factor protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "WASP|WASPA" eczema-thrombocytopenia "IMD2|THC" "thrombocytopenia 1 (X-linked)|Wiskott-Aldrich syndrome (eczema-thrombocytopenia)|Wiskott-Aldrich syndrome" Wiskott-Aldrich Syndrome protein family 14 2001-06-22 2019-02-15 2023-01-20 7454 ENSG00000015285 OTTHUMG00000034483 uc004dkm.5 AF115548 NM_000377 CCDS14303 P42768 "7795648|23527602" MGI:105059 RGD:1563567 "WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS)|http://structure.bmc.lu.se/idbase/WASbase/|LRG_125|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_125.xml" WAS 300392 120490 HGNC:12731 "ENST00000376701.5|NM_000377.3" HGNC:12731 HGNC:12732 WASF1 WASP family member 1 protein-coding gene gene with protein product Approved 6q21 06q21 "WAVE1|SCAR1|KIAA0269|WAVE" "WAS protein family, member 1|WAS protein family member 1" "Wiskott-Aldrich Syndrome protein family|A-kinase anchoring proteins|SCAR/WAVE complex" "14|396|1793" 1999-09-21 2019-02-15 2023-01-20 8936 ENSG00000112290 OTTHUMG00000015357 uc003ptv.1 D87459 NM_003931 CCDS5080 Q92558 "9843499|9889097" MGI:1890563 RGD:1561954 605035 HGNC:12732 "ENST00000392589.6|NM_003931.3" HGNC:12732 HGNC:51533 WASF1P1 WASF1 pseudogene 1 pseudogene pseudogene Approved 2q12.3 02q12.3 2015-02-20 2015-02-20 100131624 ENSG00000227597 OTTHUMG00000153228 NG_021575 PGOHUM00000298614 HGNC:51533 -HGNC:12733 WASF2 WASP family member 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "WAVE2|SCAR2" "WAS protein family, member 2|WAS protein family member 2" Wiskott-Aldrich Syndrome protein family 14 1999-09-21 2019-02-15 2023-01-20 10163 ENSG00000158195 OTTHUMG00000003393 uc057dvq.1 AB026542 NM_006990 "CCDS304|CCDS55582" Q9Y6W5 10381382 MGI:1098641 RGD:1307299 605875 HGNC:12733 "ENST00000618852.5|NM_006990.5" +HGNC:12733 WASF2 WASP family member 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "WAVE2|SCAR2" "WAS protein family, member 2|WAS protein family member 2" Wiskott-Aldrich Syndrome protein family 14 1999-09-21 2019-02-15 2023-01-20 10163 ENSG00000158195 OTTHUMG00000003393 uc057dvq.1 AB026542 NM_006990 "CCDS55582|CCDS304" Q9Y6W5 10381382 MGI:1098641 RGD:1307299 605875 HGNC:12733 "ENST00000618852.5|NM_006990.5" HGNC:12734 WASF3 WASP family member 3 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "WAVE3|SCAR3|KIAA0900" "WAS protein family, member 3|WAS protein family member 3" Wiskott-Aldrich Syndrome protein family 14 1999-09-21 2019-02-15 2023-01-20 10810 ENSG00000132970 OTTHUMG00000016621 uc001uqv.5 AB020707 NM_001291965 "CCDS9318|CCDS76626" Q9UPY6 10381382 MGI:2658986 RGD:1592807 605068 HGNC:12734 "ENST00000335327.6|NM_006646.6" HGNC:39841 WASF3-AS1 WASF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.13 13q12.13 WASF3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-30 2012-08-15 2014-11-19 100874061 ENSG00000237001 OTTHUMG00000016619 uc058vzt.1 WASF3-AS1 HGNC:20801 WASF4P WASP family member 4, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 WASF4 "WAS protein family, member 4|WAS protein family, member 4, pseudogene|WAS protein family member 4, pseudogene" Wiskott-Aldrich Syndrome protein family 14 2007-07-31 2011-05-10 2019-02-15 2023-03-15 644739 ENSG00000188459 OTTHUMG00000021456 AJ509090 NG_007616 PGOHUM00000241739 HGNC:20801 @@ -42197,10 +42199,10 @@ HGNC:53913 WASH8P WAS protein family homolog 8, pseudogene pseudogene pseudogene HGNC:53981 WASH9P WAS protein family homolog 9, pseudogene pseudogene pseudogene Approved 1p36.33 01p36.33 2018-08-03 2018-08-03 102723897 ENSG00000279457 OTTHUMG00000191963 HGNC:53981 HGNC:24361 WASHC1 WASH complex subunit 1 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 FLJ00038 "FAM39E|WASH1" "family with sequence similarity 39, member E|WAS protein family homolog 1" "Wiskott-Aldrich Syndrome protein family|WASH complex|SSU processome" "14|1331|1484" 2007-08-02 2016-10-14 2016-10-14 2023-01-20 100287171 ENSG00000181404 OTTHUMG00000019420 uc010mgm.2 AY341937 NM_182905 CCDS78375 A8K0Z3 "15233989|18159949" MGI:1916017 RGD:1310196 613632 HGNC:24361 "ENST00000696149.1|NM_001378090.1" HGNC:23416 WASHC2A WASH complex subunit 2A protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "bA56A21.1|bA98I6.1|FLJ10824" "FAM21B|FAM21A" "family with sequence similarity 21, member B|family with sequence similarity 21, member A|family with sequence similarity 21 member A" WASH complex 1331 2004-05-27 2016-10-14 2016-10-14 2023-01-20 387680 ENSG00000099290 OTTHUMG00000018225 uc001jjb.4 BC082258 NM_001005751 "CCDS81463|CCDS76303|CCDS41527" Q641Q2 MGI:106463 HGNC:23416 "ENST00000282633.10|NM_001005751.3" -HGNC:23414 WASHC2C WASH complex subunit 2C protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "Em:AC012044.3|KIAA0592" FAM21C family with sequence similarity 21 member C WASH complex 1331 2004-05-27 2016-10-14 2016-10-14 2023-01-20 253725 ENSG00000172661 OTTHUMG00000018089 uc001jcu.4 NM_001169106 "CCDS53529|CCDS81453|CCDS53528|CCDS44374" Q9Y4E1 "20357771|20498093" MGI:106463 RGD:735230 613631 HGNC:23414 "ENST00000623400.4|NM_001330074.2" +HGNC:23414 WASHC2C WASH complex subunit 2C protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "Em:AC012044.3|KIAA0592" FAM21C family with sequence similarity 21 member C WASH complex 1331 2004-05-27 2016-10-14 2016-10-14 2023-01-20 253725 ENSG00000172661 OTTHUMG00000018089 uc001jcu.4 NM_001169106 "CCDS53528|CCDS81453|CCDS53529|CCDS44374" Q9Y4E1 "20357771|20498093" MGI:106463 RGD:735230 613631 HGNC:23414 "ENST00000623400.4|NM_001330074.2" HGNC:24256 WASHC3 WASH complex subunit 3 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 CGI-116 CCDC53 coiled-coil domain containing 53 WASH complex 1331 2006-01-04 2016-10-14 2016-10-14 2023-01-20 51019 ENSG00000120860 OTTHUMG00000168187 uc010svw.3 AF151874 NM_016053 "CCDS44959|CCDS73512" Q9Y3C0 "10810093|20498093" MGI:1914532 RGD:1563761 619925 HGNC:24256 "ENST00000240079.11|NM_016053.4" HGNC:54983 WASHC3P1 WASHC3 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-14 2020-05-14 100131069 ENSG00000213747 NG_022670 -HGNC:29174 WASHC4 WASH complex subunit 4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 SWIP strumpellin and WASH-interacting protein KIAA1033 KIAA1033 WASH complex 1331 2005-03-01 2016-10-14 2016-10-14 2023-01-20 23325 ENSG00000136051 OTTHUMG00000169838 uc001tld.4 AB028956 NM_015275 "CCDS41826|CCDS73514" Q2M389 "20376207|20498093|21498477" MGI:2441787 RGD:1309995 615748 270389 HGNC:29174 "ENST00000332180.10|NM_015275.3" HGNC:29174 +HGNC:29174 WASHC4 WASH complex subunit 4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 SWIP strumpellin and WASH-interacting protein KIAA1033 KIAA1033 WASH complex 1331 2005-03-01 2016-10-14 2016-10-14 2023-01-20 23325 ENSG00000136051 OTTHUMG00000169838 uc001tld.4 AB028956 NM_015275 "CCDS73514|CCDS41826" Q2M389 "20376207|20498093|21498477" MGI:2441787 RGD:1309995 615748 270389 HGNC:29174 "ENST00000332180.10|NM_015275.3" HGNC:29174 HGNC:28984 WASHC5 WASH complex subunit 5 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 strumpellin "SPG8|KIAA0196" "spastic paraplegia 8 (autosomal dominant)|KIAA0196" WASH complex 1331 2005-07-19 2016-10-14 2016-10-14 2023-01-20 9897 ENSG00000164961 OTTHUMG00000164991 uc003yrt.4 NM_014846 "CCDS6355|CCDS83325" Q12768 "9973294|17160902|23085491" MGI:2146110 RGD:1564420 610657 122831 HGNC:28984 "ENST00000318410.12|NM_014846.4" HGNC:28984 HGNC:43440 WASHC5-AS1 WASHC5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 KIAA0196-AS1 "KIAA0196 antisense RNA 1 (non-protein coding)|KIAA0196 antisense RNA 1" Antisense RNAs 1987 2011-10-28 2016-11-21 2016-11-21 2016-11-21 106479020 ENSG00000253167 OTTHUMG00000164992 uc064qbo.1 NR_170219 HGNC:38513 WASIR1 WASH and IL9R antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 and Yq12 Xq28 and Yq12 NCRNA00286B "non-protein coding RNA 286B|WASH and IL9R antisense RNA 1 (non-protein coding)" "Pseudoautosomal region 2|Long non-coding RNAs with non-systematic symbols" "716|1992" 2010-08-24 2011-04-28 2012-08-15 2020-04-20 100128260 ENSG00000185203 OTTHUMG00000022676 uc065cww.1 AJ271736 NR_138048 WASIR1 HGNC:38513 @@ -42208,7 +42210,7 @@ HGNC:38609 WASIR2 WASH and IL9R antisense RNA 2 non-coding RNA RNA, long non-cod HGNC:12735 WASL WASP like actin nucleation promoting factor protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "N-WASP|NWASP|WASPB" "Wiskott-Aldrich syndrome-like|Wiskott-Aldrich syndrome like" Wiskott-Aldrich Syndrome protein family 14 1998-10-14 2019-02-15 2023-01-20 8976 ENSG00000106299 OTTHUMG00000157346 uc003vkz.5 D88460 NM_003941 CCDS34743 O00401 "9422512|9322739|23527602" MGI:1920428 RGD:735144 605056 HGNC:12735 "ENST00000223023.5|NM_003941.4" HGNC:54820 WASL-DT WASL divergent transcript non-coding RNA RNA, long non-coding Approved 7q31.32 07q31.32 Divergent transcripts 1990 2020-01-17 2020-07-16 116435299 ENSG00000272686 NR_170281 32079618 HGNC:12737 WBP1 WW domain binding protein 1 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 WBP-1 WBP1/VOPP1 family 1564 1999-11-26 2023-01-20 23559 ENSG00000239779 OTTHUMG00000129958 uc002slj.3 U79457 NM_012477 CCDS1943 Q96G27 7644498 MGI:104710 RGD:1304961 606961 HGNC:12737 "ENST00000233615.7|NM_012477.4" -HGNC:23510 WBP1L WW domain binding protein 1 like protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "FLJ20154|OPAL1" outcome predictor in acute leukemia 1 C10orf26 chromosome 10 open reading frame 26 WBP1/VOPP1 family 1564 2003-11-21 2012-05-02 2017-02-20 2023-01-20 54838 ENSG00000166272 OTTHUMG00000018968 uc001kwe.5 AK056285 NM_017787 "CCDS44473|CCDS7540" Q9NX94 MGI:107577 RGD:1305793 611129 HGNC:23510 "ENST00000448841.7|NM_001083913.2" +HGNC:23510 WBP1L WW domain binding protein 1 like protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "FLJ20154|OPAL1" outcome predictor in acute leukemia 1 C10orf26 chromosome 10 open reading frame 26 WBP1/VOPP1 family 1564 2003-11-21 2012-05-02 2017-02-20 2023-01-20 54838 ENSG00000166272 OTTHUMG00000018968 uc001kwe.5 AK056285 NM_017787 "CCDS7540|CCDS44473" Q9NX94 MGI:107577 RGD:1305793 611129 HGNC:23510 "ENST00000448841.7|NM_001083913.2" HGNC:43948 WBP1LP1 WBP1L pseudogene 1 pseudogene pseudogene Approved 7q34 07q34 WW domain binding protein 1-like pseudogene 1 2012-05-16 2019-02-18 2019-02-18 106479029 ENSG00000243661 OTTHUMG00000158902 NG_044331 PGOHUM00000302458 HGNC:43948 HGNC:43949 WBP1LP2 WBP1L pseudogene 2 pseudogene pseudogene Approved 7q22.3 07q22.3 WW domain binding protein 1-like pseudogene 2 2012-05-16 2019-02-18 2019-02-18 100506330 ENSG00000250474 OTTHUMG00000154776 NG_029261 PGOHUM00000302890 HGNC:43949 HGNC:43958 WBP1LP3 WBP1L pseudogene 3 pseudogene pseudogene Approved 8p23.3 08p23.3 WW domain binding protein 1-like pseudogene 3 2012-05-16 2019-02-18 2019-02-18 106479031 ENSG00000253612 OTTHUMG00000163907 NG_044349 PGOHUM00000303398 HGNC:43958 @@ -42238,9 +42240,9 @@ HGNC:20482 WDFY2 WD repeat and FYVE domain containing 2 protein-coding gene gene HGNC:20751 WDFY3 WD repeat and FYVE domain containing 3 protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "KIAA0993|ALFY|ZFYVE25" "Zinc fingers FYVE-type|WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "81|362|1230|1492" 2003-03-28 2023-03-15 23001 ENSG00000163625 OTTHUMG00000130424 uc003hpd.4 AB023210 NM_014991 CCDS3609 Q8IZQ1 10231032 MGI:1096875 RGD:1307097 617485 HGNC:20751 "ENST00000295888.9|NM_014991.6" HGNC:20751 HGNC:40935 WDFY3-AS1 WDFY3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.23 04q21.23 WDFY3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-11 2012-08-15 2014-11-19 100874023 ENSG00000251260 OTTHUMG00000160941 uc062xxl.1 NR_046707 WDFY3-AS1 HGNC:21603 WDFY3-AS2 WDFY3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 4q21.23 04q21.23 FBI4 "C4orf12|NCRNA00247" "chromosome 4 open reading frame 12|non-protein coding RNA 247|WDFY3 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2005-06-30 2013-12-05 2013-12-05 2023-03-15 404201 ENSG00000180769 OTTHUMG00000141281 uc003hpg.3 AY250185 NR_015359 "15580561|31347170" WDFY3-AS2 HGNC:21603 -HGNC:29323 WDFY4 WDFY family member 4 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "KIAA1607|Em:AC060234.3|FLJ45748" C10orf64 chromosome 10 open reading frame 64 "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 2004-02-05 2023-01-20 57705 ENSG00000128815 OTTHUMG00000018180 uc057tdq.1 AK074085 NM_020945 "CCDS44385|CCDS91241" Q6ZS81 10997877 MGI:3584510 RGD:1564142 613316 HGNC:29323 "ENST00000325239.12|NM_001394531.1" -HGNC:23170 WDHD1 WD repeat and HMG-box DNA binding protein 1 protein-coding gene gene with protein product Approved 14q22.2-q22.3 14q22.2-q22.3 "AND-1|CTF4|CHTF4" CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae) WD repeat domain containing 362 2003-11-13 2023-01-20 11169 ENSG00000198554 OTTHUMG00000140304 uc001xbm.3 AJ006266 NM_007086 "CCDS9721|CCDS41955" O75717 "9175701|20028748" MGI:2443514 RGD:1310200 608126 HGNC:23170 "ENST00000360586.8|NM_007086.4" -HGNC:28027 WDPCP WD repeat containing planar cell polarity effector protein-coding gene gene with protein product Approved 2p15 02p15 "hFrtz|fritz|BBS15|CPLANE5" ciliogenesis and planar polarity effector complex subunit 5 C2orf86 chromosome 2 open reading frame 86 Ciliogenesis and planar polarity effector complex subunits 1610 2009-02-25 2011-02-01 2011-02-01 2023-01-20 51057 ENSG00000143951 OTTHUMG00000152566 uc002sch.4 NM_015910 "CCDS42688|CCDS46301" O95876 "15654087|20671153" MGI:2144467 RGD:1309501 613580 247155 HGNC:28027 "ENST00000272321.12|NM_015910.7" HGNC:28027 +HGNC:29323 WDFY4 WDFY family member 4 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "KIAA1607|Em:AC060234.3|FLJ45748" C10orf64 chromosome 10 open reading frame 64 "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 2004-02-05 2023-01-20 57705 ENSG00000128815 OTTHUMG00000018180 uc057tdq.1 AK074085 NM_020945 "CCDS91241|CCDS44385" Q6ZS81 10997877 MGI:3584510 RGD:1564142 613316 HGNC:29323 "ENST00000325239.12|NM_001394531.1" +HGNC:23170 WDHD1 WD repeat and HMG-box DNA binding protein 1 protein-coding gene gene with protein product Approved 14q22.2-q22.3 14q22.2-q22.3 "AND-1|CTF4|CHTF4" CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae) WD repeat domain containing 362 2003-11-13 2023-01-20 11169 ENSG00000198554 OTTHUMG00000140304 uc001xbm.3 AJ006266 NM_007086 "CCDS41955|CCDS9721" O75717 "9175701|20028748" MGI:2443514 RGD:1310200 608126 HGNC:23170 "ENST00000360586.8|NM_007086.4" +HGNC:28027 WDPCP WD repeat containing planar cell polarity effector protein-coding gene gene with protein product Approved 2p15 02p15 "hFrtz|fritz|BBS15|CPLANE5" ciliogenesis and planar polarity effector complex subunit 5 C2orf86 chromosome 2 open reading frame 86 Ciliogenesis and planar polarity effector complex subunits 1610 2009-02-25 2011-02-01 2011-02-01 2023-01-20 51057 ENSG00000143951 OTTHUMG00000152566 uc002sch.4 NM_015910 "CCDS46301|CCDS42688" O95876 "15654087|20671153" MGI:2144467 RGD:1309501 613580 247155 HGNC:28027 "ENST00000272321.12|NM_015910.7" HGNC:28027 HGNC:12754 WDR1 WD repeat domain 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 AIP1 actin-interacting protein 1 "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 1999-04-23 2023-01-20 9948 ENSG00000071127 OTTHUMG00000160253 uc032tce.2 AF020260 NM_005112 "CCDS54739|CCDS54740" O75083 10036186 MGI:1337100 RGD:1305789 604734 HGNC:12754 "ENST00000499869.7|NM_017491.5" HGNC:12755 WDR3 WD repeat domain 3 protein-coding gene gene with protein product Approved 1p12 01p12 "FLJ12796|UTP12|DIP2" "WD repeat domain containing|UTPb subcomplex" "362|1225" 1998-11-30 2023-01-20 10885 ENSG00000065183 OTTHUMG00000012197 uc010oxe.2 AF083217 NM_006784 CCDS898 Q9UNX4 10395803 MGI:2443143 RGD:1307480 604737 HGNC:12755 "ENST00000349139.6|NM_006784.3" HGNC:12756 WDR4 WD repeat domain 4 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "TRM82|TRMT82|Wuho" TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae) WD repeat domain containing 362 1999-07-19 2023-01-20 10785 ENSG00000160193 OTTHUMG00000086826 uc002zci.5 AJ243912 NM_001260474 CCDS13691 P57081 12403464 MGI:1889002 RGD:1585179 605924 471328 HGNC:12756 "ENST00000398208.3|NM_018669.6" HGNC:12756 @@ -42250,76 +42252,76 @@ HGNC:12757 WDR5 WD repeat domain 5 protein-coding gene gene with protein product HGNC:55141 WDR5-DT WDR5 divergent transcript non-coding RNA RNA, long non-coding Approved 9q34.2 09q34.2 Divergent transcripts 1990 2020-07-10 2020-07-10 118568806 ENSG00000273249 HGNC:17826 WDR5B WD repeat domain 5B protein-coding gene gene with protein product Approved 3q21.1 03q21.1 FLJ11287 WD repeat domain containing 362 2002-01-29 2023-01-20 54554 ENSG00000196981 OTTHUMG00000159489 uc003efa.2 AK002149 NM_019069 CCDS3012 Q86VZ2 10369878 MGI:1916794 RGD:1308567 HGNC:17826 "ENST00000330689.6|NM_019069.4" HGNC:55192 WDR5B-DT WDR5B divergent transcript non-coding RNA RNA, long non-coding Approved 3q21.1 03q21.1 Divergent transcripts 1990 2020-08-13 2020-08-13 102723582 ENSG00000272758 NR_125405 -HGNC:12758 WDR6 WD repeat domain 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Trm734 Trm734 homolog (S. cerevisiae) WD repeat domain containing 362 1999-09-07 2023-01-20 11180 ENSG00000178252 OTTHUMG00000133546 uc062jnu.1 AF099100 NM_001320546 "CCDS2782|CCDS82772" Q9NNW5 "25404562|32558197" MGI:1930140 RGD:1307649 606031 HGNC:12758 "ENST00000608424.6|NM_018031.6" +HGNC:12758 WDR6 WD repeat domain 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Trm734 Trm734 homolog (S. cerevisiae) WD repeat domain containing 362 1999-09-07 2023-01-20 11180 ENSG00000178252 OTTHUMG00000133546 uc062jnu.1 AF099100 NM_001320546 "CCDS82772|CCDS2782" Q9NNW5 "25404562|32558197" MGI:1930140 RGD:1307649 606031 HGNC:12758 "ENST00000608424.6|NM_018031.6" HGNC:13490 WDR7 WD repeat domain 7 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 "KIAA0541|TRAG" "WD repeat domain containing|Armadillo like helical domain containing" "362|1492" 2000-09-19 2023-01-20 23335 ENSG00000091157 OTTHUMG00000132721 uc002lgk.2 AB011113 NM_001382485 "CCDS11963|CCDS11962" Q9Y4E6 10828621 MGI:1860197 RGD:619836 613473 HGNC:13490 "ENST00000254442.8|NM_015285.3" HGNC:45131 WDR7-OT1 WDR7 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 18q21.31 18q21.31 "WDR7-UA1|WDR7-UT1" "WDR7 3'UTR-associated RNA 1|WDR7 overlapping transcript 1 (non-protein coding)" Overlapping transcripts 1988 2013-02-21 2013-10-31 2014-06-02 2014-06-02 107985140 ENSG00000267225 OTTHUMG00000180085 DA634713 XR_001753461 WDR7-OT1 HGNC:45131 HGNC:13831 WDR11 WD repeat domain 11 protein-coding gene gene with protein product Approved 10q26.12 10q26.12 "KIAA1351|FLJ10506|WDR15|HH14|DR11|SRI1" sensitization to ricin complex subunit 1 BRWD2 bromodomain and WD repeat domain containing 2 WD repeat domain containing 362 2000-11-20 2010-01-06 2010-01-06 2023-01-20 55717 ENSG00000120008 OTTHUMG00000019171 uc021pzt.2 AF320223 NM_018117 CCDS7619 Q9BZH6 "10718198|11536051|23394947" MGI:1920230 RGD:1587347 606417 244406 HGNC:13831 "ENST00000263461.11|NM_018117.12" HGNC:13831 HGNC:27437 WDR11-DT WDR11 divergent transcript non-coding RNA RNA, long non-coding Approved 10q26.12 10q26.12 WDR11-AS1 "WDR11 antisense RNA 1 (non-protein coding)|WDR11 antisense RNA 1" Divergent transcripts 1990 2012-06-30 2021-07-30 2021-07-30 2021-07-30 283089 ENSG00000227165 OTTHUMG00000019169 uc057wjr.1 AK094649 NR_033850 WDR11-AS1 HGNC:27437 HGNC:14098 WDR12 WD repeat domain 12 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "YTM1|FLJ10881" "WD repeat domain containing|PeBoW complex" "362|1732" 2001-07-09 2023-01-20 55759 ENSG00000138442 OTTHUMG00000132855 uc002uzl.4 AF242546 NM_018256 CCDS2356 Q9GZL7 "16043514|17353269" MGI:1927241 RGD:735072 616620 HGNC:14098 "ENST00000261015.5|NM_018256.4" HGNC:14352 WDR13 WD repeat domain 13 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 WD repeat domain containing 362 2001-01-11 2023-01-20 64743 ENSG00000101940 OTTHUMG00000024119 uc064yzh.1 AF329819 NM_001166426 CCDS14302 Q9H1Z4 MGI:1914661 RGD:1560982 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/WDR13 300512 471326 HGNC:14352 "ENST00000376729.10|NM_001347217.2" HGNC:14352 -HGNC:16661 WDR17 WD repeat domain 17 protein-coding gene gene with protein product Approved 4q34.2 04q34.2 WD repeat domain containing 362 2001-10-26 2023-01-20 116966 ENSG00000150627 OTTHUMG00000160791 uc003iuj.4 AF492460 NM_001350727 "CCDS3825|CCDS43284" Q8IZU2 12401215 MGI:1924662 RGD:1590843 609005 HGNC:16661 "ENST00000508596.6|NM_181265.4" +HGNC:16661 WDR17 WD repeat domain 17 protein-coding gene gene with protein product Approved 4q34.2 04q34.2 WD repeat domain containing 362 2001-10-26 2023-01-20 116966 ENSG00000150627 OTTHUMG00000160791 uc003iuj.4 AF492460 NM_001350727 "CCDS43284|CCDS3825" Q8IZU2 12401215 MGI:1924662 RGD:1590843 609005 HGNC:16661 "ENST00000508596.6|NM_181265.4" HGNC:17956 WDR18 WD repeat domain 18 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Ipi3 Involved in Processing ITS2 3 homolog (S. cerevisiae) "WD repeat domain containing|Large ribosomal subunit biogenesis complex" "362|1301" 2002-01-10 2023-01-20 57418 ENSG00000065268 OTTHUMG00000181903 uc002lqm.2 NM_001372085 CCDS12051 Q9BV38 22190735 MGI:2158400 RGD:1310646 620291 HGNC:17956 "ENST00000585809.6|NM_024100.4" HGNC:18340 WDR19 WD repeat domain 19 protein-coding gene gene with protein product Approved 4p14 04p14 "Pwdmp|KIAA1638|FLJ23127|ORF26|DYF-2|Oseg6|IFT144|NPHP13|FAP66|CFAP66" intraflagellar transport 144 homolog (Chlamydomonas) "WD repeat domain containing|IFT-A complex" "362|1978" 2002-04-26 2023-01-20 57728 ENSG00000157796 OTTHUMG00000160466 uc003gtv.3 "AB046858|AY029257" NM_001317924 CCDS47042 Q8NEZ3 "12906858|22019273" MGI:2443231 RGD:1306997 608151 285468 HGNC:18340 "ENST00000399820.8|NM_025132.4" HGNC:18340 -HGNC:19667 WDR20 WD repeat domain 20 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "DMR|MGC33177|FLJ33659|Bun107" WD repeat domain containing 362 2002-11-13 2023-03-15 91833 ENSG00000140153 OTTHUMG00000171753 uc001ykz.4 BC028387 NM_181291 "CCDS9968|CCDS55945|CCDS9969|CCDS55943|CCDS55944|CCDS55942|CCDS9970|CCDS81853" Q8TBZ3 24356955 MGI:1916891 RGD:1306499 617741 HGNC:19667 "ENST00000342702.8|NM_144574.4" +HGNC:19667 WDR20 WD repeat domain 20 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "DMR|MGC33177|FLJ33659|Bun107" WD repeat domain containing 362 2002-11-13 2023-03-15 91833 ENSG00000140153 OTTHUMG00000171753 uc001ykz.4 BC028387 NM_181291 "CCDS9970|CCDS55945|CCDS9968|CCDS55942|CCDS81853|CCDS55944|CCDS55943|CCDS9969" Q8TBZ3 24356955 MGI:1916891 RGD:1306499 617741 HGNC:19667 "ENST00000342702.8|NM_144574.4" HGNC:20852 WDR24 WD repeat domain 24 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "DKFZp434F054|JFP7" C16orf21 chromosome 16 open reading frame 21 "WD repeat domain containing|GATOR2 subcomplex" "362|1395" 2003-05-08 2023-01-20 84219 ENSG00000127580 OTTHUMG00000090421 uc002ciz.2 AL136863 NM_032259 CCDS10420 Q96S15 11230166 MGI:2446285 RGD:1304803 620307 HGNC:20852 "ENST00000293883.9|NM_032259.4" HGNC:21064 WDR25 WD repeat domain 25 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 MGC4645 C14orf67 chromosome 14 open reading frame 67 WD repeat domain containing 362 2005-10-04 2023-01-20 79446 ENSG00000176473 OTTHUMG00000171585 uc010avx.4 BC007953 NM_024515 CCDS32157 Q64LD2 15587985 MGI:3045255 RGD:1562505 618059 HGNC:21064 "ENST00000402312.8|NM_001161476.3" HGNC:21208 WDR26 WD repeat domain 26 protein-coding gene gene with protein product Approved 1q42.11-q42.12 01q42.11-q42.12 "FLJ21016|GID7" GID complex subunit 7 homolog (S. cerevisiae) "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2003-07-14 2023-01-20 80232 ENSG00000162923 OTTHUMG00000037636 uc001hop.4 AK024669 NM_025160 "CCDS91162|CCDS31037" Q9H7D7 MGI:1923825 RGD:1565589 617424 HGNC:21208 "ENST00000414423.9|NM_001379403.1" HGNC:21208 -HGNC:21248 WDR27 WD repeat domain 27 protein-coding gene gene with protein product Approved 6q27 06q27 MGC43690 WD repeat domain containing 362 2004-01-15 2003-06-18 2023-01-20 253769 ENSG00000184465 OTTHUMG00000016061 uc003qwx.4 AK131435 NM_182552 "CCDS47520|CCDS94039|CCDS56459" A2RRH5 MGI:1918932 RGD:1309633 LRG_1071|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1071.xml HGNC:21248 "ENST00000448612.6|NM_182552.5" -HGNC:21421 WDR31 WD repeat domain 31 protein-coding gene gene with protein product Approved 9q32 09q32 FLJ35921 similar to spermatid WD-repeat protein WD repeat domain containing 362 2003-11-25 2023-03-15 114987 ENSG00000148225 OTTHUMG00000020525 uc064vdu.1 BC012352 NM_145241 "CCDS35110|CCDS6792" Q8NA23 MGI:1918604 RGD:1309367 HGNC:21421 "ENST00000374193.9|NM_001012361.4" -HGNC:25651 WDR33 WD repeat domain 33 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "FLJ11294|WDC146|NET14" "WD repeat domain containing|Cleavage and polyadenylation specific factor subunits" "362|1450" 2004-02-16 2023-01-20 55339 ENSG00000136709 OTTHUMG00000131534 uc002tpg.3 NM_018383 "CCDS46407|CCDS42746|CCDS2150" Q9C0J8 "11162572|19217410|25301780|25301781" MGI:1921570 RGD:1309230 618082 HGNC:25651 "ENST00000322313.9|NM_018383.5" +HGNC:21248 WDR27 WD repeat domain 27 protein-coding gene gene with protein product Approved 6q27 06q27 MGC43690 WD repeat domain containing 362 2004-01-15 2003-06-18 2023-01-20 253769 ENSG00000184465 OTTHUMG00000016061 uc003qwx.4 AK131435 NM_182552 "CCDS56459|CCDS94039|CCDS47520" A2RRH5 MGI:1918932 RGD:1309633 LRG_1071|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1071.xml HGNC:21248 "ENST00000448612.6|NM_182552.5" +HGNC:21421 WDR31 WD repeat domain 31 protein-coding gene gene with protein product Approved 9q32 09q32 FLJ35921 similar to spermatid WD-repeat protein WD repeat domain containing 362 2003-11-25 2023-03-15 114987 ENSG00000148225 OTTHUMG00000020525 uc064vdu.1 BC012352 NM_145241 "CCDS6792|CCDS35110" Q8NA23 MGI:1918604 RGD:1309367 HGNC:21421 "ENST00000374193.9|NM_001012361.4" +HGNC:25651 WDR33 WD repeat domain 33 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "FLJ11294|WDC146|NET14" "WD repeat domain containing|Cleavage and polyadenylation specific factor subunits" "362|1450" 2004-02-16 2023-01-20 55339 ENSG00000136709 OTTHUMG00000131534 uc002tpg.3 NM_018383 "CCDS42746|CCDS46407|CCDS2150" Q9C0J8 "11162572|19217410|25301780|25301781" MGI:1921570 RGD:1309230 618082 HGNC:25651 "ENST00000322313.9|NM_018383.5" HGNC:29250 WDR35 WD repeat domain 35 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "MGC33196|KIAA1336|IFT121|IFTA1|FAP118|CFAP118" "WD repeat domain containing|IFT-A complex" "362|1978" 2004-03-02 2023-01-20 57539 ENSG00000118965 OTTHUMG00000090737 uc002rdj.5 AB037757 NM_020779 "CCDS33152|CCDS1695" Q9P2L0 10718198 MGI:1921932 RGD:1564116 613602 239955 HGNC:29250 "ENST00000281405.9|NM_020779.4" HGNC:29250 HGNC:55818 WDR35-DT WDR35 divergent transcript non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 Divergent transcripts 1990 2021-07-30 2021-07-30 101928222 ENSG00000227210 NR_110235 HGNC:30696 WDR36 WD repeat domain 36 protein-coding gene gene with protein product Approved 5q22.1 05q22.1 "TA-WDRP|UTP21" GLC1G glaucoma 1, open angle, G "WD repeat domain containing|UTPb subcomplex" "362|1225" 2004-03-16 2023-01-20 134430 ENSG00000134987 OTTHUMG00000128790 uc063fxy.1 AF385437 NM_139281 CCDS4102 Q8NI36 "15590835|15677485" MGI:1917819 RGD:1586463 609669 120509 HGNC:30696 "ENST00000513710.4|NM_139281.3" HGNC:30696 HGNC:31406 WDR37 WD repeat domain 37 protein-coding gene gene with protein product Approved 10p15.3 10p15.3 KIAA0982 WD repeat domain containing 362 2004-04-06 2023-01-20 22884 ENSG00000047056 OTTHUMG00000017540 uc031ptc.1 AB023199 NM_014023 CCDS7057 Q9Y2I8 "10231032|11230166" MGI:1920393 RGD:1306189 618586 HGNC:31406 "ENST00000263150.9|NM_014023.4" HGNC:31406 -HGNC:23745 WDR38 WD repeat domain 38 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 WD repeat domain containing 362 2007-05-31 2023-01-20 401551 ENSG00000136918 OTTHUMG00000020664 uc004box.5 NM_001045476 "CCDS43876|CCDS75898|CCDS75899" Q5JTN6 MGI:1923896 RGD:1562587 HGNC:23745 "ENST00000373574.2|NM_001045476.3" +HGNC:23745 WDR38 WD repeat domain 38 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 WD repeat domain containing 362 2007-05-31 2023-01-20 401551 ENSG00000136918 OTTHUMG00000020664 uc004box.5 NM_001045476 "CCDS75899|CCDS75898|CCDS43876" Q5JTN6 MGI:1923896 RGD:1562587 HGNC:23745 "ENST00000373574.2|NM_001045476.3" HGNC:25601 WDR41 WD repeat domain 41 protein-coding gene gene with protein product Approved 5q13.3-q14.1 05q13.3-q14.1 FLJ10904 "WD repeat domain containing|SWC tripartite complex" "362|1695" 2004-06-24 2023-01-20 55255 ENSG00000164253 OTTHUMG00000102169 uc003kff.2 AF115511 NM_018268 CCDS4038 Q9HAD4 29995611 MGI:2445123 RGD:1306363 617502 HGNC:25601 "ENST00000296679.9|NM_018268.4" HGNC:28945 WDR43 WD repeat domain 43 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "KIAA0007|NET12|UTP5" UTP5, small subunit (SSU) processome component, homolog (yeast) "WD repeat domain containing|UTPa subcomplex|Small nucleolar RNA protein coding host genes" "362|1483|1835" 2004-09-01 2023-01-20 23160 ENSG00000163811 OTTHUMG00000152015 uc002rmo.3 D87716 NM_015131 CCDS46251 Q15061 "7584026|7584028|17699751" MGI:1919765 RGD:1565005 616195 HGNC:28945 "ENST00000407426.8|NM_015131.3" -HGNC:30512 WDR44 WD repeat domain 44 protein-coding gene gene with protein product Approved Xq24 Xq24 "DKFZp686L20145|RPH11|RAB11BP|SYM-4" rabphilin-11 "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2004-09-02 2023-01-20 54521 ENSG00000131725 OTTHUMG00000022254 uc004eqn.4 AK001978 NM_019045 "CCDS14572|CCDS55483|CCDS55482" Q5JSH3 "10077598|10464283|31204173" MGI:1919654 RGD:727965 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/WDR44 301070 HGNC:30512 "ENST00000254029.8|NM_019045.5" -HGNC:28912 WDR45 WD repeat domain 45 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "JM5|WIPI4|NBIA5" neurodegeneration with brain iron accumulation 5 WDRX1 WD repeat domain, X-linked 1 "WD repeat domain containing|WIPI family" "362|1568" 2004-06-02 2004-09-03 2004-09-02 2023-01-20 11152 ENSG00000196998 OTTHUMG00000034500 uc004dmp.2 BC003037 NM_007075 "CCDS14318|CCDS35250" Q9Y484 "23176820|23435086|33636118" MGI:1859606 RGD:1359718 300526 331721 HGNC:28912 "ENST00000376372.9|NM_001029896.2" HGNC:28912 +HGNC:30512 WDR44 WD repeat domain 44 protein-coding gene gene with protein product Approved Xq24 Xq24 "DKFZp686L20145|RPH11|RAB11BP|SYM-4" rabphilin-11 "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2004-09-02 2023-01-20 54521 ENSG00000131725 OTTHUMG00000022254 uc004eqn.4 AK001978 NM_019045 "CCDS55482|CCDS14572|CCDS55483" Q5JSH3 "10077598|10464283|31204173" MGI:1919654 RGD:727965 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/WDR44 301070 HGNC:30512 "ENST00000254029.8|NM_019045.5" +HGNC:28912 WDR45 WD repeat domain 45 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "JM5|WIPI4|NBIA5" neurodegeneration with brain iron accumulation 5 WDRX1 WD repeat domain, X-linked 1 "WD repeat domain containing|WIPI family" "362|1568" 2004-06-02 2004-09-03 2004-09-02 2023-01-20 11152 ENSG00000196998 OTTHUMG00000034500 uc004dmp.2 BC003037 NM_007075 "CCDS35250|CCDS14318" Q9Y484 "23176820|23435086|33636118" MGI:1859606 RGD:1359718 300526 331721 HGNC:28912 "ENST00000376372.9|NM_001029896.2" HGNC:28912 HGNC:25072 WDR45B WD repeat domain 45B protein-coding gene gene with protein product Approved 17q25.3 17q25.3 WIPI3 WDR45L WDR45-like "WD repeat domain containing|WIPI family" "362|1568" 2004-09-02 2013-01-11 2013-01-11 2023-01-20 56270 ENSG00000141580 OTTHUMG00000150146 uc002kfq.3 AF091083 NM_019613 CCDS11815 Q5MNZ6 33636118 MGI:1914090 RGD:1305141 609226 471330 HGNC:25072 "ENST00000392325.9|NM_019613.4" HGNC:25072 HGNC:26605 WDR45BP1 WD repeat domain 45B pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 WDR45LP1 WDR45-like pseudogene 1 2004-09-03 2013-01-11 2013-01-11 2020-04-20 646086 ENSG00000265574 OTTHUMG00000179563 NG_005857 PGOHUM00000237024 HGNC:26605 HGNC:52406 WDR45P1 WD repeat domain 45 pseudogene 1 pseudogene pseudogene Approved 4q31.3 04q31.3 2016-10-25 2016-10-25 594841 ENSG00000248208 OTTHUMG00000161524 NG_005192 PGOHUM00000307832 HGNC:52406 HGNC:13923 WDR46 WD repeat domain 46 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "BING4|UTP7" C6orf11 chromosome 6 open reading frame 11 "WD repeat domain containing|SSU processome|MicroRNA protein coding host genes" "362|1484|1691" 2001-04-06 2005-05-31 2005-05-31 2023-01-20 9277 ENSG00000227057 OTTHUMG00000031192 uc011fqu.3 Z97184 NM_005452 CCDS4772 O15213 "9545376|9521053|24754225" MGI:1931871 RGD:2209 611440 HGNC:13923 "ENST00000374617.9|NM_005452.6" -HGNC:29141 WDR47 WD repeat domain 47 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 KIAA0893 nemitin WD repeat domain containing 362 2004-11-12 2023-01-20 22911 ENSG00000085433 OTTHUMG00000011734 uc001dwi.4 AB020700 NM_014969 "CCDS30787|CCDS44186|CCDS44187" O94967 "10048485|22523538" MGI:2139593 RGD:1309181 615734 HGNC:29141 "ENST00000369962.8|NM_001142551.2" +HGNC:29141 WDR47 WD repeat domain 47 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 KIAA0893 nemitin WD repeat domain containing 362 2004-11-12 2023-01-20 22911 ENSG00000085433 OTTHUMG00000011734 uc001dwi.4 AB020700 NM_014969 "CCDS44186|CCDS44187|CCDS30787" O94967 "10048485|22523538" MGI:2139593 RGD:1309181 615734 HGNC:29141 "ENST00000369962.8|NM_001142551.2" HGNC:30914 WDR48 WD repeat domain 48 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "KIAA1449|P80|SPG60|Bun62" WD repeat domain containing 362 2005-01-10 2023-01-20 57599 ENSG00000114742 OTTHUMG00000155972 uc003cit.4 AF468833 NM_020839 CCDS33738 Q8TAF3 "12196293|32587090" MGI:1914811 RGD:1309702 612167 403350 HGNC:30914 "ENST00000302313.10|NM_020839.4" HGNC:30914 -HGNC:26587 WDR49 WD repeat domain 49 protein-coding gene gene with protein product Approved 3q26.1 03q26.1 FLJ33620 WD repeat domain containing 362 2005-01-31 2023-01-20 151790 ENSG00000174776 OTTHUMG00000158290 uc003fev.2 AK097556 NM_178824 "CCDS93421|CCDS3201|CCDS93422" Q8IV35 12477932 MGI:3645287 RGD:1564622 HGNC:26587 "ENST00000682715.1|NM_001366157.1" -HGNC:28786 WDR53 WD repeat domain 53 protein-coding gene gene with protein product Approved 3q29 03q29 "MGC64882|MGC12928" WD repeat domain containing 362 2005-02-01 2023-01-20 348793 ENSG00000185798 OTTHUMG00000155572 uc003fwt.4 BC054030 NM_182627 "CCDS87187|CCDS87186|CCDS3318" Q7Z5U6 12477932 MGI:1916230 RGD:1559546 615110 HGNC:28786 "ENST00000332629.7|NM_182627.3" +HGNC:26587 WDR49 WD repeat domain 49 protein-coding gene gene with protein product Approved 3q26.1 03q26.1 FLJ33620 WD repeat domain containing 362 2005-01-31 2023-01-20 151790 ENSG00000174776 OTTHUMG00000158290 uc003fev.2 AK097556 NM_178824 "CCDS3201|CCDS93422|CCDS93421" Q8IV35 12477932 MGI:3645287 RGD:1564622 HGNC:26587 "ENST00000682715.1|NM_001366157.1" +HGNC:28786 WDR53 WD repeat domain 53 protein-coding gene gene with protein product Approved 3q29 03q29 "MGC64882|MGC12928" WD repeat domain containing 362 2005-02-01 2023-01-20 348793 ENSG00000185798 OTTHUMG00000155572 uc003fwt.4 BC054030 NM_182627 "CCDS3318|CCDS87187|CCDS87186" Q7Z5U6 12477932 MGI:1916230 RGD:1559546 615110 HGNC:28786 "ENST00000332629.7|NM_182627.3" HGNC:56422 WDR53P1 WDR53 pseudogene 1 pseudogene pseudogene Approved 3p14.3 03p14.3 2022-10-19 2022-10-19 127379699 ENSG00000275607 NG_115700 PGOHUM00000299043 -HGNC:25770 WDR54 WD repeat domain 54 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 FLJ12953 WD repeat domain containing 362 2005-02-08 2023-01-20 84058 ENSG00000005448 OTTHUMG00000129951 uc002slb.4 AK023015 NM_032118 "CCDS1940|CCDS82473" Q9H977 30458214 MGI:1922909 RGD:1561494 HGNC:25770 "ENST00000348227.4|NM_032118.4" +HGNC:25770 WDR54 WD repeat domain 54 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 FLJ12953 WD repeat domain containing 362 2005-02-08 2023-01-20 84058 ENSG00000005448 OTTHUMG00000129951 uc002slb.4 AK023015 NM_032118 "CCDS82473|CCDS1940" Q9H977 30458214 MGI:1922909 RGD:1561494 HGNC:25770 "ENST00000348227.4|NM_032118.4" HGNC:25971 WDR55 WD repeat domain 55 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "FLJ20195|FLJ21702" WD repeat domain containing 362 2005-02-24 2023-01-20 54853 ENSG00000120314 OTTHUMG00000129506 uc003lgr.5 AK000202 NM_017706 CCDS4235 Q9H6Y2 18769712 MGI:1915186 HGNC:25971 "ENST00000358337.10|NM_017706.5" HGNC:25706 WDR59 WD repeat domain 59 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 FLJ12270 "WD repeat domain containing|GATOR2 subcomplex" "362|1395" 2005-04-12 2023-01-20 79726 ENSG00000103091 OTTHUMG00000170831 uc002fdh.2 AB067510 NM_030581 "CCDS82011|CCDS32488" Q6PJI9 11572484 MGI:2442115 RGD:1592213 617418 HGNC:25706 "ENST00000262144.11|NM_030581.4" -HGNC:24502 WDR62 WD repeat domain 62 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "DKFZP434J046|FLJ33298" "C19orf14|MCPH2" "chromosome 19 open reading frame 14|microcephaly, primary autosomal recessive 2" WD repeat domain containing 362 2004-02-11 2005-05-09 2005-05-09 2023-01-20 284403 ENSG00000075702 OTTHUMG00000048139 uc002odc.3 BX647726 NM_015671 "CCDS33001|CCDS46059|CCDS92604|CCDS92602|CCDS92603" O43379 "19910486|20729831|20890278|34137788|34137789" MGI:1923696 RGD:1306714 613583 239949 HGNC:24502 "ENST00000401500.7|NM_001083961.2" HGNC:24502 +HGNC:24502 WDR62 WD repeat domain 62 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "DKFZP434J046|FLJ33298" "C19orf14|MCPH2" "chromosome 19 open reading frame 14|microcephaly, primary autosomal recessive 2" WD repeat domain containing 362 2004-02-11 2005-05-09 2005-05-09 2023-01-20 284403 ENSG00000075702 OTTHUMG00000048139 uc002odc.3 BX647726 NM_015671 "CCDS46059|CCDS92604|CCDS92603|CCDS92602|CCDS33001" O43379 "19910486|20729831|20890278|34137788|34137789" MGI:1923696 RGD:1306714 613583 239949 HGNC:24502 "ENST00000401500.7|NM_001083961.2" HGNC:24502 HGNC:26570 WDR64 WD repeat domain 64 protein-coding gene gene with protein product Approved 1q43 01q43 FLJ32978 WD repeat domain containing 362 2005-05-13 2023-03-15 128025 ENSG00000162843 OTTHUMG00000039705 uc001hzg.3 AK057540 NM_144625 CCDS91185 B1ANS9 MGI:1923070 RGD:1591103 HGNC:26570 "ENST00000437684.7|NM_001367482.1" HGNC:25495 WDR70 WD repeat domain 70 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 FLJ10233 WD repeat domain containing 362 2005-05-26 2023-01-20 55100 ENSG00000082068 OTTHUMG00000162263 uc003jkv.4 BC009648 NM_018034 CCDS34147 Q9NW82 28591950 MGI:1921020 RGD:1309487 617233 HGNC:25495 "ENST00000265107.9|NM_018034.4" HGNC:56557 WDR70P1 WDR70 pseudogene 1 pseudogene pseudogene Approved 3q25.1 03q25.1 2022-11-02 2022-11-02 124906251 ENSG00000241929 PGOHUM00000299223 -HGNC:26790 WDR72 WD repeat domain 72 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 FLJ38736 WD repeat domain containing 362 2005-05-26 2023-01-20 256764 ENSG00000166415 OTTHUMG00000131939 uc031qse.1 BX537884 NM_182758 "CCDS10151|CCDS73730" Q3MJ13 "19853237|25008349" MGI:3583957 RGD:1563550 613214 225293 HGNC:26790 "ENST00000360509.10|NM_182758.4" HGNC:26790 +HGNC:26790 WDR72 WD repeat domain 72 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 FLJ38736 WD repeat domain containing 362 2005-05-26 2023-01-20 256764 ENSG00000166415 OTTHUMG00000131939 uc031qse.1 BX537884 NM_182758 "CCDS73730|CCDS10151" Q3MJ13 "19853237|25008349" MGI:3583957 RGD:1563550 613214 225293 HGNC:26790 "ENST00000360509.10|NM_182758.4" HGNC:26790 HGNC:25928 WDR73 WD repeat domain 73 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ14888|HSPC264" WD repeat domain containing 362 2005-05-26 2023-01-20 84942 ENSG00000177082 OTTHUMG00000172375 uc002bkw.3 AK027200 NM_032856 CCDS45339 Q6P4I2 25466283 MGI:1919218 RGD:1306429 616144 420151 HGNC:25928 "ENST00000434634.7|NM_032856.5" HGNC:25928 HGNC:25529 WDR74 WD repeat domain 74 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FLJ10439|Nsa1" WD repeat domain containing 362 2005-05-27 2023-01-20 54663 ENSG00000133316 OTTHUMG00000167695 uc009yoi.3 NM_018093 "CCDS44630|CCDS76421" Q6RFH5 "26456651|28416111" MGI:2147427 RGD:1582881 617947 HGNC:25529 "ENST00000278856.9|NM_001369450.1" HGNC:25725 WDR75 WD repeat domain 75 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "FLJ12519|NET16|UTP17" UTP17, small subunit (SSU) processome component, homolog (yeast) "WD repeat domain containing|UTPa subcomplex" "362|1483" 2005-05-27 2023-01-20 84128 ENSG00000115368 OTTHUMG00000132660 uc002uql.2 AK091546 NM_032168 CCDS2298 Q8IWA0 17699751 MGI:1920924 RGD:1564869 620341 HGNC:25725 "ENST00000314761.9|NM_032168.3" HGNC:25773 WDR76 WD repeat domain 76 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "FLJ12973|Cmr1" WD repeat domain containing 362 2005-05-27 2023-06-05 79968 ENSG00000092470 OTTHUMG00000060143 uc001zti.3 AK023035 NM_024908 "CCDS53938|CCDS10106" Q9H967 "12860291|25817432|30655611" MGI:1926186 RGD:1309616 620302 HGNC:25773 "ENST00000263795.11|NM_024908.4" HGNC:29652 WDR77 WD repeat domain 77 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "MEP50|p44" methylosome protein 50 WD repeat domain containing 362 2005-06-27 2005-08-09 2023-01-20 79084 ENSG00000116455 OTTHUMG00000011748 uc001ebb.4 BC016946 NM_024102 CCDS835 Q9BQA1 "11756452|8619474" MGI:1917715 RGD:1310479 611734 HGNC:29652 "ENST00000235090.10|NM_024102.4" HGNC:56815 WDR77P1 WDR77 pseudogene 1 pseudogene pseudogene Approved 4q31.3 04q31.3 2023-04-19 2023-04-19 100128050 ENSG00000250609 NG_022086 PGOHUM00000300405 -HGNC:26600 WDR81 WD repeat domain 81 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ33817|PPP1R166|CAMRQ2|SORF-2" protein phosphatase 1, regulatory subunit 166 "WD repeat domain containing|Protein phosphatase 1 regulatory subunits|BEACH domain containing |Armadillo like helical domain containing" "362|694|1230|1492" 2005-12-16 2023-03-15 124997 ENSG00000167716 OTTHUMG00000153941 uc010vqp.1 AK074111 NM_152348 "CCDS54063|CCDS54062|CCDS54061" Q562E7 "21885617|26783301|27126989" MGI:2681828 RGD:1311334 614218 327288 HGNC:26600 "ENST00000409644.6|NM_001163809.2" HGNC:26600 +HGNC:26600 WDR81 WD repeat domain 81 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ33817|PPP1R166|CAMRQ2|SORF-2" protein phosphatase 1, regulatory subunit 166 "WD repeat domain containing|Protein phosphatase 1 regulatory subunits|BEACH domain containing |Armadillo like helical domain containing" "362|694|1230|1492" 2005-12-16 2023-03-15 124997 ENSG00000167716 OTTHUMG00000153941 uc010vqp.1 AK074111 NM_152348 "CCDS54061|CCDS54063|CCDS54062" Q562E7 "21885617|26783301|27126989" MGI:2681828 RGD:1311334 614218 327288 HGNC:26600 "ENST00000409644.6|NM_001163809.2" HGNC:26600 HGNC:28826 WDR82 WD repeat domain 82 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "PRO2730|MST107|MSTP107|PRO34047|WDR82A|SWD2" TMEM113 transmembrane protein 113 "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2006-01-06 2007-07-04 2007-07-04 2023-01-20 80335 ENSG00000164091 OTTHUMG00000150391 uc003ddl.3 AF132207 NM_025222 CCDS2851 Q6UXN9 17355966 MGI:1924555 RGD:1584269 611059 HGNC:28826 "ENST00000296490.8|NM_025222.4" HGNC:32447 WDR82P1 WD repeat domain 82 pseudogene 1 pseudogene pseudogene Approved 3q11.2 03q11.2 "SW2|hCG26824|WDR82B" WDR82 WD repeat domain 82 2006-01-06 2007-07-04 2007-07-04 2020-04-20 728505 ENSG00000234629 OTTHUMG00000159020 XM_001127580 PGOHUM00000237686 HGNC:32447 HGNC:33513 WDR82P2 WD repeat domain 82 pseudogene 2 pseudogene pseudogene Approved 1p22.1 01p22.1 WDR82C 2007-07-04 2007-07-04 2014-11-25 441891 ENSG00000241318 OTTHUMG00000010094 NG_006032 PGOHUM00000295744 HGNC:33513 HGNC:32672 WDR83 WD repeat domain 83 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 MORG1 MAPK organizer 1 "WD repeat domain containing|Spliceosomal C complex|Spliceosomal P complex" "362|1510|1516" 2010-01-25 2023-01-20 84292 ENSG00000123154 OTTHUMG00000169356 uc002mue.5 AK074525 NM_032332 CCDS12275 Q9BRX9 "15118098|16407229" MGI:1915086 RGD:1306947 616850 HGNC:32672 "ENST00000418543.8|NM_001099737.3" HGNC:30203 WDR83OS WD repeat domain 83 opposite strand protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "PTD008|Asterix" C19orf56 chromosome 19 open reading frame 56 2006-08-21 2011-11-24 2011-11-24 2023-01-20 51398 ENSG00000105583 OTTHUMG00000182617 uc002mud.3 AF151898 NM_016145 CCDS12274 Q9Y284 "10810093|31266804" MGI:3041257 RGD:1564058 618474 HGNC:30203 "ENST00000596731.7|NM_016145.4" -HGNC:28020 WDR86 WD repeat domain 86 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 WD repeat domain containing 362 2006-07-06 2023-01-20 349136 ENSG00000187260 OTTHUMG00000150764 uc003wkb.3 AK125347 NM_198285 "CCDS64805|CCDS5925|CCDS75680|CCDS64806" Q86TI4 12477932 MGI:1915466 RGD:1566180 HGNC:28020 "ENST00000334493.11|NM_198285.3" +HGNC:28020 WDR86 WD repeat domain 86 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 WD repeat domain containing 362 2006-07-06 2023-01-20 349136 ENSG00000187260 OTTHUMG00000150764 uc003wkb.3 AK125347 NM_198285 "CCDS64806|CCDS64805|CCDS5925|CCDS75680" Q86TI4 12477932 MGI:1915466 RGD:1566180 HGNC:28020 "ENST00000334493.11|NM_198285.3" HGNC:41186 WDR86-AS1 WDR86 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 WDR86 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-19 100131176 ENSG00000243836 OTTHUMG00000157360 uc033apx.2 AK095986 NR_034012 WDR86-AS1 HGNC:41186 -HGNC:29934 WDR87 WD repeat domain 87 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 NYD-SP11 "WD repeat domain containing|Armadillo like helical domain containing" "362|1492" 2006-07-06 2023-01-20 83889 ENSG00000171804 OTTHUMG00000048187 uc010efu.3 AK128826 NM_031951 "CCDS74356|CCDS46063" Q6ZQQ6 MGI:2149781 "RGD:9407641|RGD:1585333" 620274 HGNC:29934 "ENST00000447313.7|NM_001291088.2" +HGNC:29934 WDR87 WD repeat domain 87 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 NYD-SP11 "WD repeat domain containing|Armadillo like helical domain containing" "362|1492" 2006-07-06 2023-01-20 83889 ENSG00000171804 OTTHUMG00000048187 uc010efu.3 AK128826 NM_031951 "CCDS46063|CCDS74356" Q6ZQQ6 MGI:2149781 "RGD:9407641|RGD:1585333" 620274 HGNC:29934 "ENST00000447313.7|NM_001291088.2" HGNC:55125 WDR87BP WD repeat domain 87B, pseudogene pseudogene pseudogene Approved 19q13.13 19q13.13 2020-07-02 2020-07-02 100631378 ENSG00000225868 NR_040015 PGOHUM00000294997 HGNC:26999 WDR88 WD repeat domain 88 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 PQWD PQQ repeat and WD repeat domain containing WD repeat domain containing 362 2006-07-06 2007-04-04 2007-04-04 2023-01-20 126248 ENSG00000166359 OTTHUMG00000180342 uc002nui.4 BC031227 NM_173479 CCDS12429 Q6ZMY6 12477932 MGI:2686275 RGD:1560122 HGNC:26999 "ENST00000355868.4|NM_173479.4" HGNC:20489 WDR89 WD repeat domain 89 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 MGC9907 C14orf150 WD repeat domain containing 362 2004-06-11 2006-07-07 2023-01-20 112840 ENSG00000140006 OTTHUMG00000140340 uc059chs.1 AF115513 NM_080666 CCDS9759 Q96FK6 MGI:1919588 RGD:1307393 HGNC:20489 "ENST00000620954.2|NM_080666.4" HGNC:26960 WDR90 WD repeat domain 90 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ36483|KIAA1924|POC16" "C16orf17|C16orf15|C16orf16|C16orf19|C16orf18" "chromosome 16 open reading frame 17|chromosome 16 open reading frame 15|chromosome 16 open reading frame 16|chromosome 16 open reading frame 19|chromosome 16 open reading frame 18" WD repeat domain containing 362 2006-07-07 2023-01-20 197335 ENSG00000161996 OTTHUMG00000048040 uc002cii.2 AB067511 NM_145294 CCDS42092 Q96KV7 "11572484|11157797|28781053" MGI:1921267 RGD:7520481 618290 HGNC:26960 "ENST00000293879.9|NM_145294.5" HGNC:24997 WDR91 WD repeat domain 91 protein-coding gene gene with protein product Approved 7q33 07q33 "HSPC049|SORF-1" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2007-06-18 2023-01-20 29062 ENSG00000105875 OTTHUMG00000155414 uc003vsp.3 AF161534 NM_014149 CCDS34758 A4D1P6 26783301 MGI:2141558 RGD:1306697 616303 HGNC:24997 "ENST00000354475.5|NM_014149.4" -HGNC:26924 WDR93 WD repeat domain 93 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "FAP297|C1d-87|CFAP297" "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2007-11-19 2023-01-20 56964 ENSG00000140527 OTTHUMG00000172007 uc002boj.3 NM_020212 "CCDS66862|CCDS32326|CCDS73779" Q6P2C0 22573824 MGI:3646885 RGD:1559862 619891 HGNC:26924 "ENST00000268130.12|NM_020212.2" HGNC:26924 +HGNC:26924 WDR93 WD repeat domain 93 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "FAP297|C1d-87|CFAP297" "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2007-11-19 2023-01-20 56964 ENSG00000140527 OTTHUMG00000172007 uc002boj.3 NM_020212 "CCDS73779|CCDS66862|CCDS32326" Q6P2C0 22573824 MGI:3646885 RGD:1559862 619891 HGNC:26924 "ENST00000268130.12|NM_020212.2" HGNC:26924 HGNC:42637 WDR95P WD repeat domain 95, pseudogene pseudogene pseudogene Approved 13q12.3 13q12.3 WD40 repeat domain 95, pseudogene WD repeat domain containing 362 2011-08-10 2014-04-14 2020-08-13 100873795 ENSG00000231894 OTTHUMG00000016687 NG_032519 HGNC:42637 HGNC:26959 WDR97 WD repeat domain 97 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA1875 KIAA1875 WD repeat domain containing 362 2005-09-23 2015-10-09 2015-10-09 2023-01-20 340390 ENSG00000179698 OTTHUMG00000165245 AB058778 NM_001316309 CCDS83334 A6NE52 11347906 MGI:5594498 RGD:1562063 HGNC:26959 "ENST00000323662.9|NM_001316309.2" -HGNC:26697 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "UBOX6|FLJ36175" WDSAM1 "WD repeat and SAM domain containing 1|WD repeat, SAM and U-box domain containing 1" "WD repeat domain containing|U-box domain containing|Sterile alpha motif domain containing" "362|365|760" 2004-07-15 2005-03-25 2006-02-17 2023-01-20 151525 ENSG00000196151 OTTHUMG00000132028 uc002ual.5 AK093494 NM_152528 "CCDS77477|CCDS82525|CCDS2208" Q8N9V3 20979629 MGI:1919387 RGD:1359296 HGNC:26697 "ENST00000359774.9|NM_001128212.3" -HGNC:29175 WDTC1 WD and tetratricopeptide repeats 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "KIAA1037|ADP|DCAF9" "adipose homolog (Drosophila)|DDB1 and CUL4 associated factor 9" "WD repeat domain containing|DDB1 and CUL4 associated factors|Tetratricopeptide repeat domain containing" "362|498|769" 2003-12-22 2023-01-20 23038 ENSG00000142784 OTTHUMG00000004273 uc001bno.5 AK023778 NM_015023 "CCDS90895|CCDS60044|CCDS296" Q8N5D0 "12717455|19238144" MGI:2685541 RGD:1310362 619763 HGNC:29175 "ENST00000319394.8|NM_001276252.2" +HGNC:26697 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "UBOX6|FLJ36175" WDSAM1 "WD repeat and SAM domain containing 1|WD repeat, SAM and U-box domain containing 1" "WD repeat domain containing|U-box domain containing|Sterile alpha motif domain containing" "362|365|760" 2004-07-15 2005-03-25 2006-02-17 2023-01-20 151525 ENSG00000196151 OTTHUMG00000132028 uc002ual.5 AK093494 NM_152528 "CCDS2208|CCDS82525|CCDS77477" Q8N9V3 20979629 MGI:1919387 RGD:1359296 HGNC:26697 "ENST00000359774.9|NM_001128212.3" +HGNC:29175 WDTC1 WD and tetratricopeptide repeats 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "KIAA1037|ADP|DCAF9" "adipose homolog (Drosophila)|DDB1 and CUL4 associated factor 9" "WD repeat domain containing|DDB1 and CUL4 associated factors|Tetratricopeptide repeat domain containing" "362|498|769" 2003-12-22 2023-01-20 23038 ENSG00000142784 OTTHUMG00000004273 uc001bno.5 AK023778 NM_015023 "CCDS296|CCDS90895|CCDS60044" Q8N5D0 "12717455|19238144" MGI:2685541 RGD:1310362 619763 HGNC:29175 "ENST00000319394.8|NM_001276252.2" HGNC:55858 WDTC1-DT WDTC1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Divergent transcripts 1990 2021-09-03 2021-09-03 105376890 ENSG00000224311 XR_007065560 -HGNC:12761 WEE1 WEE1 G2 checkpoint kinase protein-coding gene gene with protein product Approved 11p15.4 11p15.4 WEE1A "wee1+ (S. pombe) homolog|WEE1 homolog (S. pombe)" 1992-08-06 2013-10-21 2023-01-20 7465 ENSG00000166483 OTTHUMG00000165863 uc001mhs.4 X62048 NM_003390 "CCDS44536|CCDS7800" P30291 1840647 MGI:103075 RGD:1307895 193525 objectId:2278 2.7.10.2 HGNC:12761 "ENST00000450114.7|NM_003390.4" +HGNC:12761 WEE1 WEE1 G2 checkpoint kinase protein-coding gene gene with protein product Approved 11p15.4 11p15.4 WEE1A "wee1+ (S. pombe) homolog|WEE1 homolog (S. pombe)" 1992-08-06 2013-10-21 2023-01-20 7465 ENSG00000166483 OTTHUMG00000165863 uc001mhs.4 X62048 NM_003390 "CCDS7800|CCDS44536" P30291 1840647 MGI:103075 RGD:1307895 193525 objectId:2278 2.7.10.2 HGNC:12761 "ENST00000450114.7|NM_003390.4" HGNC:56216 WEE1P1 WEE1 pseudogene 1 pseudogene pseudogene Approved 4p16.3 04p16.3 2022-03-23 2022-03-23 100129037 ENSG00000250238 NG_022001 PGOHUM00000299723 HGNC:56217 WEE1P2 WEE1 pseudogene 2 pseudogene pseudogene Approved 17p11.1 17p11.1 2022-03-23 2022-03-23 100129683 ENSG00000264970 NG_022464 HGNC:19684 WEE2 WEE2 oocyte meiosis inhibiting kinase protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ16107|WEE1B" "WEE1 homolog 2 (S. pombe)|WEE1 homolog 2" 2005-01-21 2019-09-16 2023-01-20 494551 ENSG00000214102 OTTHUMG00000157536 uc003vwn.2 AK131218 NM_001105558 CCDS43660 P0C1S8 "28792760|23616086" MGI:3027899 RGD:1587197 614084 objectId:2279 2.7.10.2 HGNC:19684 "ENST00000397541.6|NM_001105558.1" HGNC:19684 @@ -42333,50 +42335,50 @@ HGNC:16164 WFDC6 WAP four-disulfide core domain 6 protein-coding gene gene with HGNC:16163 WFDC8 WAP four-disulfide core domain 8 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ461P17.1|WAP8" C20orf170 chromosome 20 open reading frame 170 WAP four-disulfide core domain containing 361 2001-07-17 2003-02-21 2003-02-21 2023-01-20 90199 ENSG00000158901 OTTHUMG00000046342 uc002xow.4 AL031663 NM_130896 CCDS13361 Q8IUA0 12206714 MGI:2685552 RGD:1597713 I02.971 HGNC:16163 "ENST00000289953.3|NM_130896.3" HGNC:20380 WFDC9 WAP four-disulfide core domain 9 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "WAP9|dJ688G8.2" WAP four-disulfide core domain containing 361 2003-02-21 2023-01-20 259240 ENSG00000180205 OTTHUMG00000046332 uc002xoy.3 AL031671 NM_147198 CCDS13362 Q8NEX5 12206714 MGI:3652032 RGD:1303087 HGNC:20380 "ENST00000326000.2|NM_147198.4" HGNC:16139 WFDC10A WAP four-disulfide core domain 10A protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ688G8.3|WAP10" C20orf146 chromosome 20 open reading frame 146 WAP four-disulfide core domain containing 361 2001-07-17 2003-02-21 2003-02-21 2023-01-20 140832 ENSG00000180305 OTTHUMG00000046331 uc002xoz.4 AL031671 NM_080753 CCDS13363 Q9H1F0 12206714 MGI:3616889 RGD:1596480 HGNC:16139 "ENST00000372643.4|NM_080753.3" -HGNC:20479 WFDC10B WAP four-disulfide core domain 10B protein-coding gene gene with protein product Approved 20q13.12 20q13.12 WAP12 WAP four-disulfide core domain containing 361 2003-02-21 2023-01-20 280664 ENSG00000182931 OTTHUMG00000130227 uc002xpc.4 AF454506 NM_172006 "CCDS13365|CCDS13366" Q8IUB3 12206714 MGI:3616889 HGNC:20479 "ENST00000330523.10|NM_172006.2" +HGNC:20479 WFDC10B WAP four-disulfide core domain 10B protein-coding gene gene with protein product Approved 20q13.12 20q13.12 WAP12 WAP four-disulfide core domain containing 361 2003-02-21 2023-01-20 280664 ENSG00000182931 OTTHUMG00000130227 uc002xpc.4 AF454506 NM_172006 "CCDS13366|CCDS13365" Q8IUB3 12206714 MGI:3616889 HGNC:20479 "ENST00000330523.10|NM_172006.2" HGNC:20478 WFDC11 WAP four-disulfide core domain 11 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 WAP11 WAP four-disulfide core domain containing 361 2003-02-21 2023-01-20 259239 ENSG00000180083 OTTHUMG00000046330 uc061xin.1 AY047609 NM_147197 CCDS13364 Q8NEX6 12206714 MGI:3651686 RGD:1596469 HGNC:20478 "ENST00000324384.4|NM_147197.2" HGNC:16115 WFDC12 WAP four-disulfide core domain 12 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ211D12.4|WAP2" C20orf122 chromosome 20 open reading frame 122 WAP four-disulfide core domain containing 361 2001-07-17 2003-02-21 2003-02-21 2023-01-20 128488 ENSG00000168703 OTTHUMG00000046412 uc002xnf.2 Z93016 NM_080869 CCDS13343 Q8WWY7 "11779191|12206714" MGI:2183434 RGD:1303229 609872 I17.003 HGNC:16115 "ENST00000372785.3|NM_080869.2" HGNC:16131 WFDC13 WAP four-disulfide core domain 13 protein-coding gene gene with protein product Approved 20q13.11 20q13.11 "dJ601O1.3|WAP13" C20orf138 chromosome 20 open reading frame 138 WAP four-disulfide core domain containing 361 2001-07-17 2003-02-21 2003-02-21 2023-01-20 164237 ENSG00000168634 OTTHUMG00000046333 uc002xpd.3 AF454505 NM_172005 Q8IUB5 12206714 MGI:3582777 RGD:2319575 HGNC:16131 "ENST00000305479.3|NM_172005.2" HGNC:50357 WFDC21P WAP four-disulfide core domain 21, pseudogene pseudogene pseudogene Approved 17q23.1 17q23.1 "LOC645638|lnc-DC|LNCDC" "long non-coding RNA, dendritic cell differentiation|WDNM1-like, pseudogene|lnc-dendritic cell lncRNA" 2014-06-16 2017-06-01 645638 ENSG00000261040 OTTHUMG00000176074 NR_030732 "24744378|26158411" MGI:1913357 615772 lnc-dc HGNC:50357 HGNC:30912 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "RJD2|WFIKKN|WFDC20A" WAP four-disulfide core domain 20A C16orf12 chromosome 16 open reading frame 12 "WAP four-disulfide core domain containing|I-set domain containing" "361|593" 2004-08-24 2023-01-20 117166 ENSG00000127578 OTTHUMG00000090359 uc002cht.2 AK075356 NM_053284 CCDS10414 Q96NZ8 "11274388|11928817" MGI:2670967 RGD:1565835 608021 LI90-001 HGNC:30912 "ENST00000319070.3|NM_053284.3" -HGNC:30916 WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "WFIKKNRP|WFDC20B" WAP four-disulfide core domain 20B "WAP four-disulfide core domain containing|I-set domain containing" "361|593" 2004-08-24 2023-01-20 124857 ENSG00000173714 OTTHUMG00000162274 uc002isv.5 AY358142 NM_175575 "CCDS82159|CCDS11575" Q8TEU8 "11928817|12709070" MGI:2669209 RGD:1305361 610895 LI90-002 HGNC:30916 "ENST00000311378.5|NM_175575.6" +HGNC:30916 WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "WFIKKNRP|WFDC20B" WAP four-disulfide core domain 20B "WAP four-disulfide core domain containing|I-set domain containing" "361|593" 2004-08-24 2023-01-20 124857 ENSG00000173714 OTTHUMG00000162274 uc002isv.5 AY358142 NM_175575 "CCDS11575|CCDS82159" Q8TEU8 "11928817|12709070" MGI:2669209 RGD:1305361 610895 LI90-002 HGNC:30916 "ENST00000311378.5|NM_175575.6" HGNC:12762 WFS1 wolframin ER transmembrane glycoprotein protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "DIDMOAD|WFS" "DFNA6|DFNA14|DFNA38" Wolfram syndrome 1 (wolframin) 1995-01-30 2016-02-17 2023-01-20 7466 ENSG00000109501 OTTHUMG00000090431 uc003gix.3 AF084481 NM_001145853 CCDS3386 O76024 "7987399|9771706" MGI:1328355 RGD:68954 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_1417|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1417.xml" 606201 120514 HGNC:12762 "ENST00000226760.5|NM_006005.3" HGNC:12762 HGNC:30493 WHAMM WASP homolog associated with actin, golgi membranes and microtubules protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "KIAA1971|WHAMM1" WHDC1 "WAS protein homology region 2 domain containing 1|WAS protein homolog associated with actin, golgi membranes and microtubules" Wiskott-Aldrich Syndrome protein family 14 2005-10-25 2009-02-18 2019-02-15 2023-01-20 123720 ENSG00000156232 OTTHUMG00000172422 uc002bje.5 AK126887 NM_001080435 CCDS45333 Q8TF30 "11853319|18226259|18614018|18812086" MGI:2142282 RGD:1563506 612393 HGNC:30493 "ENST00000286760.5|NM_001080435.3" HGNC:32361 WHAMMP1 WHAMM pseudogene 1 pseudogene pseudogene Approved 15q13.3 15q13.3 WHDC1P1 "WAS protein homology region 2 domain containing 1 pseudogene 1|WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 1" 2005-10-25 2009-02-18 2021-07-05 2021-07-05 100288615 ENSG00000223509 AC009673 NR_036650 PGOHUM00000292898 HGNC:32361 HGNC:32360 WHAMMP2 WHAMM pseudogene 2 pseudogene pseudogene Approved 15q13.1 15q13.1 "WHDC1L2|WHAMML2" "WAS protein homology region 2 domain containing 1-like 2 (pseudogene)|WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)|WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2" 2005-10-25 2011-06-24 2021-07-05 2021-07-05 440253 ENSG00000248334 OTTHUMG00000176340 BC035099 NR_026589 PGOHUM00000247031 HGNC:32360 HGNC:27892 WHAMMP3 WHAMM pseudogene 3 pseudogene pseudogene Approved 15q11.2 15q11.2 "WHDC1L1|WHAMML1" "WAS protein homology region 2 domain containing 1-like 1|WAS protein homolog associated with actin, golgi membranes and microtubules-like 1|WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)|WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3" 2005-10-25 2011-06-24 2021-07-05 2021-07-05 339005 ENSG00000276141 OTTHUMG00000188382 BC048987 NR_003521 Q1A5X7 18226259 PGOHUM00000293128 HGNC:27892 HGNC:55700 WHAMMP4 WHAMM pseudogene 4 pseudogene pseudogene Approved 15q13.2 15q13.2 2021-07-05 2021-07-05 100288203 ENSG00000215302 NR_146103 PGOHUM00000293171 -HGNC:16361 WHRN whirlin protein-coding gene gene with protein product Approved 9q32 09q32 "CIP98|USH2D|PDZD7B" DFNB31 deafness, autosomal recessive 31 "PDZ domain containing|USH2 complex " "1220|1244" 2001-08-14 2016-05-17 2016-05-17 2023-03-15 25861 ENSG00000095397 OTTHUMG00000020539 uc004biz.5 AK056190 NM_015404 "CCDS43870|CCDS6806" Q9P202 "12833159|17171570" MGI:2682003 RGD:631330 "CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=DFNB31|LRG_1094|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1094.xml" 607928 139217 HGNC:16361 "ENST00000362057.4|NM_015404.4" HGNC:16361 +HGNC:16361 WHRN whirlin protein-coding gene gene with protein product Approved 9q32 09q32 "CIP98|USH2D|PDZD7B" DFNB31 deafness, autosomal recessive 31 "PDZ domain containing|USH2 complex " "1220|1244" 2001-08-14 2016-05-17 2016-05-17 2023-03-15 25861 ENSG00000095397 OTTHUMG00000020539 uc004biz.5 AK056190 NM_015404 "CCDS6806|CCDS43870" Q9P202 "12833159|17171570" MGI:2682003 RGD:631330 "CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=DFNB31|LRG_1094|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1094.xml" 607928 139217 HGNC:16361 "ENST00000362057.4|NM_015404.4" HGNC:16361 HGNC:14647 WHSC1L2P Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 "NSD4P|HsT36289" WHSC1L1P Wolf-Hirschhorn syndrome candidate 1-like 1 pseudogene 2001-04-25 2011-04-15 2019-02-19 100128016 ENSG00000267253 OTTHUMG00000180887 NG_008078 11549311 PGOHUM00000294120 HGNC:14647 HGNC:18081 WIF1 WNT inhibitory factor 1 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 Receptor ligands 542 2002-01-29 2023-01-20 11197 ENSG00000156076 OTTHUMG00000168832 uc001ssk.4 AF122922 NM_007191 CCDS8971 Q9Y5W5 10201374 MGI:1344332 RGD:619774 WIF1 605186 ligandId:5372 HGNC:18081 "ENST00000286574.9|NM_007191.5" -HGNC:12736 WIPF1 WAS/WASL interacting protein family member 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 WIP WASPIP "Wiskott-Aldrich syndrome protein interacting protein|WAS/WASL interacting protein family, member 1" 1998-03-02 2006-10-12 2015-11-18 2023-01-20 7456 ENSG00000115935 OTTHUMG00000132334 uc002uja.4 AF031588 NM_003387 "CCDS2260|CCDS92901|CCDS92900" O43516 9405671 MGI:2178801 RGD:620887 LRG_374|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_374.xml 602357 292448 HGNC:12736 "ENST00000679041.1|NM_001375834.1" HGNC:12736 +HGNC:12736 WIPF1 WAS/WASL interacting protein family member 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 WIP WASPIP "Wiskott-Aldrich syndrome protein interacting protein|WAS/WASL interacting protein family, member 1" 1998-03-02 2006-10-12 2015-11-18 2023-01-20 7456 ENSG00000115935 OTTHUMG00000132334 uc002uja.4 AF031588 NM_003387 "CCDS2260|CCDS92900|CCDS92901" O43516 9405671 MGI:2178801 RGD:620887 LRG_374|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_374.xml 602357 292448 HGNC:12736 "ENST00000679041.1|NM_001375834.1" HGNC:12736 HGNC:30923 WIPF2 WAS/WASL interacting protein family member 2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "WICH|WIRE" WAS/WASL interacting protein family, member 2 2006-10-12 2015-11-18 2023-01-20 147179 ENSG00000171475 OTTHUMG00000133331 uc002hug.2 BC025965 NM_133264 CCDS11364 Q8TF74 "12213210|11829459" MGI:1924462 RGD:1561080 609692 HGNC:30923 "ENST00000323571.9|NM_133264.5" -HGNC:22004 WIPF3 WAS/WASL interacting protein family member 3 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "CR16|FLJ36931" WAS/WASL interacting protein family, member 3 2006-10-12 2015-11-18 2023-03-08 644150 ENSG00000122574 OTTHUMG00000152761 uc022aaz.1 AK094250 NM_001080529 "CCDS94074|CCDS56472" A6NGB9 36649229 MGI:3044681 RGD:708559 612432 HGNC:22004 "ENST00000242140.10|NM_001080529.3" +HGNC:22004 WIPF3 WAS/WASL interacting protein family member 3 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "CR16|FLJ36931" WAS/WASL interacting protein family, member 3 2006-10-12 2015-11-18 2023-03-08 644150 ENSG00000122574 OTTHUMG00000152761 uc022aaz.1 AK094250 NM_001080529 "CCDS56472|CCDS94074" A6NGB9 36649229 MGI:3044681 RGD:708559 612432 HGNC:22004 "ENST00000242140.10|NM_001080529.3" HGNC:25471 WIPI1 WD repeat domain, phosphoinositide interacting 1 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "FLJ10055|WIPI49|ATG18|ATG18A" "WD repeat domain containing|Autophagy related|WIPI family" "362|1022|1568" 2005-11-15 2023-01-20 55062 ENSG00000070540 OTTHUMG00000179873 uc010dey.4 NM_017983 "CCDS82193|CCDS11677" Q5MNZ9 "15020712|15602573" MGI:1261864 RGD:1307754 609224 HGNC:25471 "ENST00000262139.10|NM_017983.7" -HGNC:32225 WIPI2 WD repeat domain, phosphoinositide interacting 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "ATG21|CGI-50|FLJ12979|FLJ14217|FLJ42984|DKFZP434J154|DKFZp686P02188|ATG18B" "WD repeat domain containing|Autophagy related|WIPI family" "362|1022|1568" 2005-11-15 2023-01-20 26100 ENSG00000157954 OTTHUMG00000121179 uc003snx.4 NM_015610 "CCDS5339|CCDS47531|CCDS47533|CCDS47532|CCDS34593" Q9Y4P8 15602573 MGI:1923831 RGD:1359154 609225 HGNC:32225 "ENST00000288828.9|NM_015610.4" HGNC:32225 -HGNC:30917 WIZ WIZ zinc finger protein-coding gene gene with protein product Approved 19p13.12 19p13.12 ZNF803 widely interspaced zinc finger motifs Zinc fingers C2H2-type 28 2006-10-17 2018-11-22 2023-01-20 58525 ENSG00000011451 OTTHUMG00000182448 uc002nbb.5 AK091183 NM_021241 "CCDS82308|CCDS92545|CCDS92547|CCDS92546|CCDS42516" O95785 "9795207|12226707|27410475" MGI:1332638 RGD:1307771 619715 HGNC:30917 "ENST00000673675.1|NM_001371589.1" +HGNC:32225 WIPI2 WD repeat domain, phosphoinositide interacting 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "ATG21|CGI-50|FLJ12979|FLJ14217|FLJ42984|DKFZP434J154|DKFZp686P02188|ATG18B" "WD repeat domain containing|Autophagy related|WIPI family" "362|1022|1568" 2005-11-15 2023-01-20 26100 ENSG00000157954 OTTHUMG00000121179 uc003snx.4 NM_015610 "CCDS34593|CCDS47532|CCDS47533|CCDS47531|CCDS5339" Q9Y4P8 15602573 MGI:1923831 RGD:1359154 609225 HGNC:32225 "ENST00000288828.9|NM_015610.4" HGNC:32225 +HGNC:30917 WIZ WIZ zinc finger protein-coding gene gene with protein product Approved 19p13.12 19p13.12 ZNF803 widely interspaced zinc finger motifs Zinc fingers C2H2-type 28 2006-10-17 2018-11-22 2023-01-20 58525 ENSG00000011451 OTTHUMG00000182448 uc002nbb.5 AK091183 NM_021241 "CCDS92546|CCDS42516|CCDS92545|CCDS92547|CCDS82308" O95785 "9795207|12226707|27410475" MGI:1332638 RGD:1307771 619715 HGNC:30917 "ENST00000673675.1|NM_001371589.1" HGNC:51696 WIZP1 WIZ pseudogene 1 pseudogene pseudogene Approved 11p14.3 11p14.3 widely interspaced zinc finger motifs pseudogene 1 2015-05-07 2018-11-22 2018-11-22 645598 ENSG00000255293 OTTHUMG00000166083 NG_021812 PGOHUM00000290845 HGNC:51696 HGNC:30238 WLS Wnt ligand secretion mediator protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "FLJ23091|MRP|EVI|mig-14" wntless homolog "C1orf139|GPR177" "chromosome 1 open reading frame 139|G protein-coupled receptor 177|wntless homolog (Drosophila)|wntless Wnt ligand secretion mediator" MicroRNA protein coding host genes 1691 2005-07-08 2010-03-02 2018-11-09 2023-01-20 79971 ENSG00000116729 OTTHUMG00000009153 uc001def.3 BX538320 NM_024911 "CCDS53331|CCDS30750|CCDS642" Q5T9L3 "20652957|30113308" MGI:1915401 RGD:735139 611514 HGNC:30238 "ENST00000262348.9|NM_024911.7" -HGNC:14540 WNK1 WNK lysine deficient protein kinase 1 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "HSAN2|PPP1R167" protein phosphatase 1, regulatory subunit 167 "PRKWNK1|HSN2" "protein kinase, lysine deficient 1|hereditary sensory neuropathy, type II" "Protein phosphatase 1 regulatory subunits|Minor histocompatibility antigens|WNK lysine deficient protein kinases" "694|870|1899" 2001-02-06 2005-01-21 2005-01-19 2023-03-15 65125 ENSG00000060237 OTTHUMG00000090321 uc001qio.4 AJ296290 NM_018979 "CCDS8506|CCDS53731|CCDS73419" Q9H4A3 MGI:2442092 RGD:621141 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_247|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_247.xml" 605232 120531 objectId:2280 HGNC:14540 "ENST00000315939.11|NM_018979.4" HGNC:14540 +HGNC:14540 WNK1 WNK lysine deficient protein kinase 1 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "HSAN2|PPP1R167" protein phosphatase 1, regulatory subunit 167 "PRKWNK1|HSN2" "protein kinase, lysine deficient 1|hereditary sensory neuropathy, type II" "Protein phosphatase 1 regulatory subunits|Minor histocompatibility antigens|WNK lysine deficient protein kinases" "694|870|1899" 2001-02-06 2005-01-21 2005-01-19 2023-03-15 65125 ENSG00000060237 OTTHUMG00000090321 uc001qio.4 AJ296290 NM_018979 "CCDS53731|CCDS8506|CCDS73419" Q9H4A3 MGI:2442092 RGD:621141 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_247|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_247.xml" 605232 120531 objectId:2280 HGNC:14540 "ENST00000315939.11|NM_018979.4" HGNC:14540 HGNC:14542 WNK2 WNK lysine deficient protein kinase 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "NY-CO-43|KIAA1760" "SDCCAG43|PRKWNK2" serologically defined colon cancer antigen 43 WNK lysine deficient protein kinases 1899 2001-02-07 2005-01-22 2003-06-23 2023-03-15 65268 ENSG00000165238 OTTHUMG00000020247 uc004ati.3 AJ242724 NM_006648 CCDS75858 Q9Y3S1 "9610721|11571656" MGI:1922857 RGD:1307284 606249 objectId:2281 HGNC:14542 "ENST00000427277.7|NM_006648.4" HGNC:14543 WNK3 WNK lysine deficient protein kinase 3 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 PRKWNK3 protein kinase, lysine deficient 3 WNK lysine deficient protein kinases 1899 2001-02-07 2005-01-22 2005-01-19 2023-01-20 65267 ENSG00000196632 OTTHUMG00000021626 uc004dtc.3 AJ409088 NM_020922 "CCDS14357|CCDS35302" Q9BYP7 MGI:2652875 RGD:1563131 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/WNK3 300358 471336 objectId:2282 HGNC:14543 HGNC:14544 WNK4 WNK lysine deficient protein kinase 4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 PRKWNK4 protein kinase, lysine deficient 4 WNK lysine deficient protein kinases 1899 2001-02-07 2005-01-19 2005-01-19 2023-01-20 65266 ENSG00000126562 OTTHUMG00000180650 uc002ibj.4 AJ309861 NM_001321299 CCDS11439 Q96J92 MGI:1917097 RGD:631401 601844 120534 objectId:2283 HGNC:14544 "ENST00000246914.10|NM_032387.5" HGNC:14544 HGNC:12774 WNT1 Wnt family member 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 INT1 wingless-type MMTV integration site family, member 1 Wnt family 360 2001-06-22 2016-03-18 2023-01-20 7471 ENSG00000125084 OTTHUMG00000170403 uc001rsu.4 X03072 NM_005430 CCDS8776 P04628 "2998762|3281802" MGI:98953 RGD:1597195 164820 331934 ligandId:3672 HGNC:12774 "ENST00000293549.4|NM_005430.4" HGNC:12774 HGNC:12780 WNT2 Wnt family member 2 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 IRP secreted growth factor INT1L1 wingless-type MMTV integration site family member 2 Wnt family 360 1988-08-05 2016-03-18 2023-01-20 7472 ENSG00000105989 OTTHUMG00000023428 uc003viz.4 X07876 NM_003391 CCDS5771 P09544 2971536 MGI:98954 RGD:621346 147870 ligandId:3673 HGNC:12780 "ENST00000265441.8|NM_003391.3" -HGNC:12781 WNT2B Wnt family member 2B protein-coding gene gene with protein product Approved 1p13.2 01p13.2 XWNT2 "XWNT2, Xenopus, homolog of|wingless-type MMTV integration site family, member 13" WNT13 wingless-type MMTV integration site family, member 2B Wnt family 360 1997-09-05 2016-03-18 2023-01-20 7482 ENSG00000134245 OTTHUMG00000011157 uc001ecb.4 AB045116 NM_004185 "CCDS847|CCDS76188|CCDS846" Q93097 "8761309|10944466" MGI:1261834 RGD:69346 601968 ligandId:3674 HGNC:12781 "ENST00000369684.5|NM_024494.3" HGNC:12781 +HGNC:12781 WNT2B Wnt family member 2B protein-coding gene gene with protein product Approved 1p13.2 01p13.2 XWNT2 "XWNT2, Xenopus, homolog of|wingless-type MMTV integration site family, member 13" WNT13 wingless-type MMTV integration site family, member 2B Wnt family 360 1997-09-05 2016-03-18 2023-01-20 7482 ENSG00000134245 OTTHUMG00000011157 uc001ecb.4 AB045116 NM_004185 "CCDS846|CCDS76188|CCDS847" Q93097 "8761309|10944466" MGI:1261834 RGD:69346 601968 ligandId:3674 HGNC:12781 "ENST00000369684.5|NM_024494.3" HGNC:12781 HGNC:12782 WNT3 Wnt family member 3 protein-coding gene gene with protein product Approved 17q21.31-q21.32 17q21.31-q21.32 "MGC131950|MGC138321|MGC138323" WNT-3 proto-oncogene protein INT4 wingless-type MMTV integration site family, member 3 Wnt family 360 1989-05-30 2016-03-18 2023-01-20 7473 ENSG00000108379 OTTHUMG00000178076 uc002ikv.3 AY009397 NM_030753 CCDS11505 P56703 8244403 MGI:98955 RGD:3972 165330 120537 ligandId:3675 HGNC:12782 "ENST00000225512.6|NM_030753.5" HGNC:12782 HGNC:15983 WNT3A Wnt family member 3A protein-coding gene gene with protein product Approved 1q42.13 01q42.13 wingless-type MMTV integration site family, member 3A Wnt family 360 2001-06-29 2016-03-18 2023-01-20 89780 ENSG00000154342 OTTHUMG00000037593 uc001hrq.3 AB060284 NM_033131 CCDS1564 P56704 11414706 MGI:98956 RGD:1308057 606359 310103 ligandId:3549 HGNC:15983 "ENST00000284523.2|NM_033131.4" HGNC:12783 WNT4 Wnt family member 4 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 WNT-4 wingless-type MMTV integration site family, member 4 Wnt family 360 2000-07-31 2016-03-18 2023-01-20 54361 ENSG00000162552 OTTHUMG00000002894 uc001bfs.5 AL031281 NM_030761 CCDS223 P56705 8168088 MGI:98957 RGD:621348 603490 120540 ligandId:3547 HGNC:12783 "ENST00000290167.11|NM_030761.5" HGNC:12783 HGNC:12784 WNT5A Wnt family member 5A protein-coding gene gene with protein product Approved 3p14.3 03p14.3 hWNT5A WNT-5A protein wingless-type MMTV integration site family, member 5A Wnt family 360 1993-07-06 2016-03-18 2023-01-20 7474 ENSG00000114251 OTTHUMG00000158361 uc062ktw.1 L20861 NM_003392 "CCDS58835|CCDS46850" P41221 8288227 MGI:98958 RGD:69250 164975 231387 ligandId:3548 HGNC:12784 "ENST00000264634.9|NM_003392.7" HGNC:12784 -HGNC:40616 WNT5A-AS1 WNT5A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 WNT5A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874008 ENSG00000244586 OTTHUMG00000158382 uc062kub.1 WNT5A-AS1 +HGNC:40616 WNT5A-AS1 WNT5A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 WNT5A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874008 ENSG00000244586 OTTHUMG00000158382 uc062kub.1 NR_046656 WNT5A-AS1 HGNC:16265 WNT5B Wnt family member 5B protein-coding gene gene with protein product Approved 12p13.33 12p13.33 wingless-type MMTV integration site family, member 5B Wnt family 360 2001-07-18 2016-03-18 2023-01-20 81029 ENSG00000111186 OTTHUMG00000090375 uc009zdq.4 AB060966 NM_030775 CCDS8510 Q9H1J7 11445850 MGI:98959 RGD:628850 606361 ligandId:3676 HGNC:16265 "ENST00000397196.7|NM_032642.3" HGNC:12785 WNT6 Wnt family member 6 protein-coding gene gene with protein product Approved 2q35 02q35 wingless-type MMTV integration site family, member 6 Wnt family 360 1998-07-10 2016-03-18 2023-01-20 7475 ENSG00000115596 OTTHUMG00000133082 uc002vjc.2 AF079522 NM_006522 CCDS2425 Q9Y6F9 "10343101|11350055" MGI:98960 RGD:1304559 604663 ligandId:3678 HGNC:12785 "ENST00000233948.4|NM_006522.4" HGNC:12786 WNT7A Wnt family member 7A protein-coding gene gene with protein product Approved 3p25.1 03p25.1 Wnt-7a proto-oncogene Wnt7a protein wingless-type MMTV integration site family, member 7A Wnt family 360 1996-03-12 2016-03-18 2023-01-20 7476 ENSG00000154764 OTTHUMG00000129803 uc003bye.2 D83175 NM_004625 CCDS2616 O00755 "8893824|9161407" MGI:98961 RGD:69079 601570 120543 ligandId:3679 HGNC:12786 "ENST00000285018.5|NM_004625.4" HGNC:12786 HGNC:12787 WNT7B Wnt family member 7B protein-coding gene gene with protein product Approved 22q13.31 22q13.31 wingless-type MMTV integration site family, member 7B Wnt family 360 1997-04-21 2016-03-18 2023-01-20 7477 ENSG00000188064 OTTHUMG00000154636 uc003bgo.4 AF416743 NM_058238 "CCDS93177|CCDS33667" P56706 "8168088|9284940|11562755" MGI:98962 RGD:1311441 601967 ligandId:3681 HGNC:12787 "ENST00000339464.9|NM_058238.3" HGNC:12787 -HGNC:12788 WNT8A Wnt family member 8A protein-coding gene gene with protein product Approved 5q31.2 05q31.2 WNT8D wingless-type MMTV integration site family, member 8A Wnt family 360 1995-11-01 2016-03-18 2023-03-15 7478 ENSG00000061492 OTTHUMG00000129196 uc003lcd.1 AB057725 NM_058244 "CCDS43368|CCDS75311" Q9H1J5 11408932 MGI:107924 RGD:1306312 606360 ligandId:3682 HGNC:12788 "ENST00000506684.6|NM_001300939.2" +HGNC:12788 WNT8A Wnt family member 8A protein-coding gene gene with protein product Approved 5q31.2 05q31.2 WNT8D wingless-type MMTV integration site family, member 8A Wnt family 360 1995-11-01 2016-03-18 2023-03-15 7478 ENSG00000061492 OTTHUMG00000129196 uc003lcd.1 AB057725 NM_058244 "CCDS75311|CCDS43368" Q9H1J5 11408932 MGI:107924 RGD:1306312 606360 ligandId:3682 HGNC:12788 "ENST00000506684.6|NM_001300939.2" HGNC:12789 WNT8B Wnt family member 8B protein-coding gene gene with protein product Approved 10q24.31 10q24.31 wingless-type MMTV integration site family, member 8B Wnt family 360 1995-11-01 2016-03-18 2023-01-20 7479 ENSG00000075290 OTTHUMG00000018912 uc001krb.4 X91940 NM_003393 CCDS7494 Q93098 8661156 MGI:109485 RGD:1307644 601396 471338 ligandId:3683 HGNC:12789 "ENST00000343737.6|NM_003393.4" HGNC:12778 WNT9A Wnt family member 9A protein-coding gene gene with protein product Approved 1q42.13 01q42.13 WNT14 "wingless-type MMTV integration site family, member 14|wingless-type MMTV integration site family, member 9A" "Wnt family|MicroRNA protein coding host genes" "360|1691" 1997-09-12 2003-03-14 2016-03-18 2023-01-20 7483 ENSG00000143816 OTTHUMG00000037592 uc001hri.3 AB060283 NM_003395 CCDS31045 O14904 9441749 MGI:2446084 RGD:1305018 602863 ligandId:3684 HGNC:12778 "ENST00000272164.6|NM_003395.4" -HGNC:12779 WNT9B Wnt family member 9B protein-coding gene gene with protein product Approved 17q21.32 17q21.32 WNT14B WNT15 "wingless-type MMTV integration site family, member 15|wingless-type MMTV integration site family, member 9B" Wnt family 360 1997-09-12 2003-03-14 2016-03-18 2023-01-20 7484 ENSG00000158955 OTTHUMG00000178077 uc002ikw.2 AF028703 NM_003396 "CCDS82147|CCDS11506" O14905 "9441749|11713592" MGI:1197020 RGD:1309574 602864 ligandId:3686 HGNC:12779 "ENST00000290015.7|NM_003396.3" +HGNC:12779 WNT9B Wnt family member 9B protein-coding gene gene with protein product Approved 17q21.32 17q21.32 WNT14B WNT15 "wingless-type MMTV integration site family, member 15|wingless-type MMTV integration site family, member 9B" Wnt family 360 1997-09-12 2003-03-14 2016-03-18 2023-01-20 7484 ENSG00000158955 OTTHUMG00000178077 uc002ikw.2 AF028703 NM_003396 "CCDS11506|CCDS82147" O14905 "9441749|11713592" MGI:1197020 RGD:1309574 602864 ligandId:3686 HGNC:12779 "ENST00000290015.7|NM_003396.3" HGNC:13829 WNT10A Wnt family member 10A protein-coding gene gene with protein product Approved 2q35 02q35 wingless-type MMTV integration site family, member 10A Wnt family 360 2001-07-13 2016-03-18 2023-01-20 80326 ENSG00000135925 OTTHUMG00000133085 uc002vjd.2 AB059569 NM_025216 CCDS2426 Q9GZT5 "11350055|17847007" MGI:108071 RGD:1307015 606268 123345 ligandId:3687 HGNC:13829 "ENST00000258411.8|NM_025216.3" HGNC:13829 HGNC:12775 WNT10B Wnt family member 10B protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "WNT-12|SHFM6" wingless-type MMTV integration site family, member 10B Wnt family 360 1997-09-05 2016-03-18 2023-01-20 7480 ENSG00000169884 OTTHUMG00000150734 uc001rss.4 X97057 NM_003394 CCDS8775 O00744 "9121776|9284937|18515319" MGI:108061 RGD:1304988 601906 183933 ligandId:3688 HGNC:12775 "ENST00000301061.9|NM_003394.4" HGNC:12775 HGNC:12776 WNT11 Wnt family member 11 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 wingless-type MMTV integration site family, member 11 Wnt family 360 1998-08-06 2016-03-18 2023-01-20 7481 ENSG00000085741 OTTHUMG00000165264 uc001oxe.4 Y12692 NM_004626 CCDS8242 O96014 9757009 MGI:101948 RGD:621463 603699 ligandId:3689 HGNC:12776 "ENST00000322563.8|NM_004626.3" @@ -42384,15 +42386,15 @@ HGNC:16267 WNT16 Wnt family member 16 protein-coding gene gene with protein prod HGNC:25522 WRAP53 WD repeat containing antisense to TP53 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ10385|TCAB1" "telomerase cajal body protein 1|WD-encoding RNA antisense to p53" WDR79 "WD repeat domain 79|WD repeat containing, antisense to TP53" WD repeat domain containing 362 2005-08-12 2009-02-16 2016-04-25 2023-01-20 55135 ENSG00000141499 OTTHUMG00000134323 uc010vuh.2 "AK001247|DQ431240" NM_018081 CCDS11119 Q9BUR4 "19179534|19250907|19571673|19342896|20494116|21441950" MGI:2384933 RGD:1359624 LRG_375|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_375.xml 612661 266162 HGNC:25522 "ENST00000396463.7|NM_001143992.2" HGNC:25522 HGNC:12759 WRAP73 WD repeat containing, antisense to TP73 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 WDR8 WD repeat domain 8 WD repeat domain containing 362 2000-03-15 2011-04-13 2011-04-13 2023-01-20 49856 ENSG00000116213 OTTHUMG00000000612 uc001ako.4 "AB034912|EF494669" NM_017818 CCDS48 Q9P2S5 MGI:1891749 RGD:1359137 606040 HGNC:12759 "ENST00000270708.12|NM_017818.4" HGNC:12791 WRN WRN RecQ like helicase protein-coding gene gene with protein product Approved 8p12 08p12 "RECQL2|RECQ3" "Werner syndrome|Werner syndrome RecQ like helicase" "Exonucleases|RecQ like helicases" "544|1049" 1991-08-21 2019-04-15 2023-01-20 7486 ENSG00000165392 OTTHUMG00000163894 uc003xio.5 NM_000553 CCDS6082 Q14191 9288107 MGI:109635 RGD:1564788 "Database of WS-associated WRN mutations|http://www.pathology.washington.edu/werner/ws_wrn.html|LRG_524|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_524.xml" WRN 604611 120545 HGNC:12791 "ENST00000298139.7|NM_000553.6" HGNC:12791 -HGNC:20876 WRNIP1 WRN helicase interacting protein 1 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "WHIP|FLJ22526|bA420G6.2|FAP93|CFAP93" Werner helicase interacting protein 1 "AAA ATPases|Cilia and flagella associated" "413|1491" 2003-06-13 2019-04-11 2023-01-20 56897 ENSG00000124535 OTTHUMG00000014126 uc003mtz.4 AB056152 NM_130395 "CCDS4475|CCDS4476" Q96S55 11301316 MGI:1926153 RGD:628836 608196 HGNC:20876 "ENST00000380773.9|NM_020135.3" +HGNC:20876 WRNIP1 WRN helicase interacting protein 1 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "WHIP|FLJ22526|bA420G6.2|FAP93|CFAP93" Werner helicase interacting protein 1 "AAA ATPases|Cilia and flagella associated" "413|1491" 2003-06-13 2019-04-11 2023-01-20 56897 ENSG00000124535 OTTHUMG00000014126 uc003mtz.4 AB056152 NM_130395 "CCDS4476|CCDS4475" Q96S55 11301316 MGI:1926153 RGD:628836 608196 HGNC:20876 "ENST00000380773.9|NM_020135.3" HGNC:19221 WSB1 WD repeat and SOCS box containing 1 protein-coding gene gene with protein product Approved 17q11.1 17q11.1 "DKFZp564A122|DKFZp564B0482|SWIP1" WD repeat and SOCS box-containing 1 WD repeat domain containing 362 2004-02-20 2011-01-25 2023-01-20 26118 ENSG00000109046 OTTHUMG00000132293 uc002gzd.2 AF069313 NM_015626 "CCDS11220|CCDS11221" Q9Y6I7 "10354473|12076535" MGI:1926139 RGD:1307835 610091 HGNC:19221 "ENST00000262394.7|NM_015626.10" -HGNC:19222 WSB2 WD repeat and SOCS box containing 2 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "SBA2|MGC10210" WD repeat and SOCS box-containing 2 WD repeat domain containing 362 2004-02-20 2011-01-25 2023-01-20 55884 ENSG00000176871 OTTHUMG00000168885 uc001twr.4 AF038187 NM_018639 "CCDS61252|CCDS61251|CCDS9186" Q9NYS7 12076535 MGI:2144041 RGD:1359599 HGNC:19222 "ENST00000315436.8|NM_018639.5" +HGNC:19222 WSB2 WD repeat and SOCS box containing 2 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "SBA2|MGC10210" WD repeat and SOCS box-containing 2 WD repeat domain containing 362 2004-02-20 2011-01-25 2023-01-20 55884 ENSG00000176871 OTTHUMG00000168885 uc001twr.4 AF038187 NM_018639 "CCDS9186|CCDS61252|CCDS61251" Q9NYS7 12076535 MGI:2144041 RGD:1359599 HGNC:19222 "ENST00000315436.8|NM_018639.5" HGNC:29060 WSCD1 WSC domain containing 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 KIAA0523 2007-03-27 2023-01-20 23302 ENSG00000179314 OTTHUMG00000177794 uc010cli.4 NM_015253 CCDS32538 Q658N2 MGI:2448493 RGD:1308212 619584 HGNC:29060 "ENST00000317744.10|NM_015253.2" HGNC:29117 WSCD2 WSC domain containing 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 KIAA0789 2007-03-27 2023-01-20 9671 ENSG00000075035 OTTHUMG00000169579 uc001tms.4 NM_014653 CCDS41828 Q2TBF2 MGI:2445030 RGD:1589744 619253 HGNC:29117 "ENST00000547525.6|NM_014653.4" HGNC:51639 WSPAR WNT signaling pathway activating non-coding RNA non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 "TCONS_00009511-XLOC_004555|lncTCF7" Long non-coding RNAs with non-systematic symbols 1992 2015-04-09 2017-01-06 105664404 ENSG00000249073 OTTHUMG00000163048 BE270324 NR_131252 "25842979|27766570" 616333 WSPAR HGNC:51639 -HGNC:12796 WT1 WT1 transcription factor protein-coding gene gene with protein product Approved 11p13 11p13 "WAGR|WIT-2|AWT1|NPHS4|WT-1" GUD Wilms tumor 1 Zinc fingers C2H2-type 28 1989-04-13 2019-02-15 2023-03-15 7490 ENSG00000184937 OTTHUMG00000039556 uc001mtn.4 NM_000378 "CCDS55750|CCDS44561|CCDS44562|CCDS55751|CCDS7878" P19544 "14681303|9810227" MGI:98968 RGD:3974 LRG_525|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_525.xml WT1 607102 120549 HGNC:12796 "ENST00000452863.10|NM_024426.6" HGNC:12796 +HGNC:12796 WT1 WT1 transcription factor protein-coding gene gene with protein product Approved 11p13 11p13 "WAGR|WIT-2|AWT1|NPHS4|WT-1" GUD Wilms tumor 1 Zinc fingers C2H2-type 28 1989-04-13 2019-02-15 2023-03-15 7490 ENSG00000184937 OTTHUMG00000039556 uc001mtn.4 NM_000378 "CCDS44561|CCDS55751|CCDS7878|CCDS44562|CCDS55750" P19544 "14681303|9810227" MGI:98968 RGD:3974 LRG_525|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_525.xml WT1 607102 120549 HGNC:12796 "ENST00000452863.10|NM_024426.6" HGNC:12796 HGNC:18135 WT1-AS WT1 antisense RNA non-coding RNA RNA, long non-coding Approved 11p13 11p13 "WIT-1|WT1AS|WT1-AS1" Wilms tumor associated protein WIT1 "Wilms tumor upstream neighbor 1|WT1 antisense RNA (non-protein coding)" Antisense RNAs 1987 2005-10-28 2012-01-25 2012-08-15 2023-03-15 51352 ENSG00000183242 OTTHUMG00000039557 uc058adn.1 BC002734 NR_023920 Q06250 "2173145|8406502|17210670" MGI:2138884 607899 wt1-as WT1-AS HGNC:18135 -HGNC:16846 WTAP WT1 associated protein protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "KIAA0105|MGC3925|Mum2" Wilms tumor 1 associated protein "m6A methyltransferase complex|WTAP complex" "1419|1420" 2003-05-19 2017-02-28 2023-01-20 9589 ENSG00000146457 OTTHUMG00000015933 uc003qsl.6 AJ276706 NM_152857 "CCDS75542|CCDS5266|CCDS5267" Q15007 "7788527|11001926|24407421" MGI:1926395 RGD:1563824 605442 HGNC:16846 "ENST00000621533.5|NM_001270531.2" +HGNC:16846 WTAP WT1 associated protein protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "KIAA0105|MGC3925|Mum2" Wilms tumor 1 associated protein "m6A methyltransferase complex|WTAP complex" "1419|1420" 2003-05-19 2017-02-28 2023-01-20 9589 ENSG00000146457 OTTHUMG00000015933 uc003qsl.6 AJ276706 NM_152857 "CCDS5267|CCDS75542|CCDS5266" Q15007 "7788527|11001926|24407421" MGI:1926395 RGD:1563824 605442 HGNC:16846 "ENST00000621533.5|NM_001270531.2" HGNC:44115 WTAPP1 Wilms tumor 1 associated protein pseudogene 1 pseudogene pseudogene Approved 11q22.2 11q22.2 2012-06-23 2020-06-03 100288077 ENSG00000255282 OTTHUMG00000165847 NR_038390 32473628 HGNC:44115 HGNC:20964 WTIP WT1 interacting protein protein-coding gene gene with protein product Approved 19q13.11 19q13.11 WT1-interacting protein Wilms tumor 1 interacting protein Ajuba family 1403 2005-02-11 2017-02-28 2023-01-20 126374 ENSG00000142279 OTTHUMG00000182099 uc002nvm.4 AK130059 NM_001080436 CCDS59375 A6NIX2 14736876 MGI:2141920 RGD:1306411 614790 HGNC:20964 "ENST00000590071.7|NM_001080436.2" HGNC:29435 WWC1 WW and C2 domain containing 1 protein-coding gene gene with protein product Approved 5q34 05q34 "KIBRA|KIAA0869|PPP1R168" protein phosphatase 1, regulatory subunit 168 WW, C2 and coiled-coil domain containing 1 "WWC family|Protein phosphatase 1 regulatory subunits|C2 and WW domain containing" "158|694|838" 2006-02-22 2006-11-09 2023-01-20 23286 ENSG00000113645 OTTHUMG00000130408 uc003lzu.4 AF506799 NM_015238 "CCDS54945|CCDS4366" Q8IX03 "10048485|12559952" MGI:2388637 RGD:1308329 610533 HGNC:29435 "ENST00000265293.9|NM_015238.3" @@ -42406,15 +42408,15 @@ HGNC:53169 WWOX-AS1 WWOX antisense RNA 1 non-coding RNA RNA, long non-coding App HGNC:17004 WWP1 WW domain containing E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "AIP5|DKFZP434D2111" "C2 and WW domain containing|HECT domain containing" "838|1959" 2004-07-07 2023-01-20 11059 ENSG00000123124 OTTHUMG00000163690 uc003ydt.4 AY043361 NM_007013 CCDS6242 Q9H0M0 "9169421|9647693" MGI:1861728 RGD:1311734 602307 HGNC:17004 "ENST00000517970.6|NM_007013.4" HGNC:55520 WWP1-AS1 WWP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q21.3 08q21.3 AC103760.1 Antisense RNAs 1987 2021-03-18 2022-11-10 105375624 ENSG00000254231 XR_001745987 35965795 HGNC:48944 WWP1P1 WW domain containing E3 ubiquitin protein ligase 1 pseudogene 1 pseudogene pseudogene Approved 3q12.1 03q12.1 2013-07-22 2016-08-16 339843 ENSG00000244153 OTTHUMG00000159795 NG_022259 PGOHUM00000299513 HGNC:48944 -HGNC:16804 WWP2 WW domain containing E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 AIP2 atrophin-1-interacting protein 2 "C2 and WW domain containing|MicroRNA protein coding host genes|HECT domain containing" "838|1691|1959" 2004-07-07 2023-01-20 11060 ENSG00000198373 OTTHUMG00000137573 uc002exv.3 BC013645 NM_007014 "CCDS10885|CCDS58475|CCDS58476|CCDS58477" O00308 "9169421|12167593" MGI:1914144 RGD:1310091 602308 HGNC:16804 "ENST00000359154.7|NM_001270454.2" +HGNC:16804 WWP2 WW domain containing E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 AIP2 atrophin-1-interacting protein 2 "C2 and WW domain containing|MicroRNA protein coding host genes|HECT domain containing" "838|1691|1959" 2004-07-07 2023-01-20 11060 ENSG00000198373 OTTHUMG00000137573 uc002exv.3 BC013645 NM_007014 "CCDS10885|CCDS58477|CCDS58476|CCDS58475" O00308 "9169421|12167593" MGI:1914144 RGD:1310091 602308 HGNC:16804 "ENST00000359154.7|NM_001270454.2" HGNC:24042 WWTR1 WW domain containing transcription regulator 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "TAZ|DKFZp586I1419" transcriptional coactivator with PDZ-binding motif 2004-12-03 2023-01-20 25937 ENSG00000018408 OTTHUMG00000159614 uc003exh.4 AK022036 NM_015472 CCDS3144 Q9GZV5 "11118213|15096513" MGI:1917649 RGD:1559609 WWTR1 607392 431102 HGNC:24042 "ENST00000360632.8|NM_015472.6" HGNC:41035 WWTR1-AS1 WWTR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 WWTR1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2019-07-12 100128025 ENSG00000241313 OTTHUMG00000159618 uc003exi.3 NR_040250 31172583 WWTR1-AS1 HGNC:41035 HGNC:41469 WWTR1-IT1 WWTR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 WWTR1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 106478977 ENSG00000241985 OTTHUMG00000159620 uc062oxk.1 NR_174973 WWTR1-IT1 HGNC:14089 XAB2 XPA binding protein 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HCNP|HCRN|SYF1|NTC90" "SYF1 homolog, RNA splicing factor (S. cerevisiae)|SYF1 pre-mRNA-splicing factor" "Nucleotide excision repair|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1269|1507|1508|1510|1516" 2003-10-14 2023-01-20 56949 ENSG00000076924 OTTHUMG00000182404 uc002mgx.4 AB026111 NM_020196 CCDS32892 Q9HCS7 10944529 MGI:1914689 RGD:621217 610850 HGNC:14089 "ENST00000358368.5|NM_020196.3" HGNC:45056 XACT X active specific transcript non-coding RNA RNA, long non-coding Approved Xq23 Xq23 X active coating transcript X active specific transcript (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-02-04 2018-05-16 2018-05-16 105463123 ENSG00000241743 OTTHUMG00000022220 uc065atz.1 BQ010753 NR_131204 "23334669|25921272" 300901 xact XACT HGNC:45056 HGNC:30932 XAF1 XIAP associated factor 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "BIRC4BP|XIAPAF1|HSXIAPAF1" Zinc fingers TRAF-type 2139 2008-03-04 2023-01-20 54739 ENSG00000132530 OTTHUMG00000177908 uc002gdn.4 X99699 NM_017523 "CCDS11081|CCDS11080" Q6GPH4 "12029096|11175744" MGI:3772572 RGD:1585988 606717 HGNC:30932 "ENST00000361842.8|NM_017523.5" -HGNC:4111 XAGE1A X antigen family member 1A protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "XAGE-1|CT12.1a" cancer/testis antigen family 12, member 1a "GAGED2|XAGE1" "G antigen, family D, 2|X antigen family, member 1|X antigen family, member 1A" XAGE family 1844 1999-04-15 2008-05-19 2015-11-18 2023-03-15 653220 ENSG00000204379 OTTHUMG00000021557 uc004dqf.4 NM_001097594 "CCDS75982|CCDS75983" Q9HD64 10197611 300742 HGNC:4111 "ENST00000375602.2|NM_001097594.3" -HGNC:25400 XAGE1B X antigen family member 1B protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "CT12.1b|CT12.1c|CT12.1d" cancer/testis antigen family 12, member 1b "XAGE1C|XAGE1D|XAGE1E" "X antigen family, member 1B|X antigen family member 1C|X antigen family, member 1C|X antigen family member 1D|X antigen family, member 1D|X antigen family member 1E|X antigen family, member 1E" XAGE family 1844 2006-06-30 2015-11-18 2023-03-15 653067 ENSG00000204382 OTTHUMG00000163577 uc064zig.1 NM_001097604 "CCDS48128|CCDS48126" Q9HD64 300289 HGNC:25400 "ENST00000375616.6|NM_001097604.3" +HGNC:4111 XAGE1A X antigen family member 1A protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "XAGE-1|CT12.1a" cancer/testis antigen family 12, member 1a "GAGED2|XAGE1" "G antigen, family D, 2|X antigen family, member 1|X antigen family, member 1A" XAGE family 1844 1999-04-15 2008-05-19 2015-11-18 2023-03-15 653220 ENSG00000204379 OTTHUMG00000021557 uc004dqf.4 NM_001097594 "CCDS75983|CCDS75982" Q9HD64 10197611 300742 HGNC:4111 "ENST00000375602.2|NM_001097594.3" +HGNC:25400 XAGE1B X antigen family member 1B protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "CT12.1b|CT12.1c|CT12.1d" cancer/testis antigen family 12, member 1b "XAGE1C|XAGE1D|XAGE1E" "X antigen family, member 1B|X antigen family member 1C|X antigen family, member 1C|X antigen family member 1D|X antigen family, member 1D|X antigen family member 1E|X antigen family, member 1E" XAGE family 1844 2006-06-30 2015-11-18 2023-03-15 653067 ENSG00000204382 OTTHUMG00000163577 uc064zig.1 NM_001097604 "CCDS48126|CCDS48128" Q9HD64 300289 HGNC:25400 "ENST00000375616.6|NM_001097604.3" HGNC:4112 XAGE2 X antigen family member 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "XAGE-2|CT12.2" cancer/testis antigen family 12, member 2 "GAGED3|XAGE2B" "G antigen, family D, 3|X antigen family, member 2B|X antigen family, member 2" XAGE family 1844 1999-04-15 2005-01-27 2015-11-18 2023-01-20 9502 ENSG00000155622 OTTHUMG00000021549 uc004dqe.4 NM_130777 CCDS59525 Q96GT9 10197611 300416 HGNC:4112 "ENST00000286049.3|NM_130777.3" HGNC:14618 XAGE3 X antigen family member 3 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "XAGE-3|pp9012|CT12.3a|CT12.3b" "cancer/testis antigen family 12, member 3a|cancer/testis antigen family 12, member 3b" "PLAC6|GAGED4" "placenta-specific 6; G antigen, family D, 4|X antigen family, member 3" XAGE family 1844 2002-04-03 2005-01-27 2015-11-18 2023-01-20 170626 ENSG00000171402 OTTHUMG00000021587 uc004drf.4 BG354572 NM_133179 CCDS14347 Q8WTP9 300740 HGNC:14618 "ENST00000346279.4|NM_133179.3" HGNC:30930 XAGE5 X antigen family member 5 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "XAGE-5|CT12.5" cancer/testis antigen family 12, member 5 GAGED5 "G antigen, family D, 5|X antigen family, member 5" XAGE family 1844 2004-08-16 2005-01-27 2015-11-18 2023-01-20 170627 ENSG00000171405 OTTHUMG00000021589 uc064zio.1 BC069129 NM_130775 CCDS14346 Q8WWM1 12477932 301063 HGNC:30930 "ENST00000375501.2|NM_001386970.1" @@ -42434,8 +42436,8 @@ HGNC:52375 XIAPP1 X-linked inhibitor of apoptosis pseudogene 1 pseudogene pseudo HGNC:52376 XIAPP2 X-linked inhibitor of apoptosis pseudogene 2 pseudogene pseudogene Approved 11q14.2 11q14.2 2016-08-19 2016-08-19 100420509 ENSG00000254843 OTTHUMG00000167235 NG_024396 PGOHUM00000290621 HGNC:52376 HGNC:52377 XIAPP3 X-linked inhibitor of apoptosis pseudogene 3 pseudogene pseudogene Approved 2q14.1 02q14.1 2016-08-19 2016-08-19 100128413 ENSG00000180152 OTTHUMG00000153319 NG_021579 PGOHUM00000298646 HGNC:52377 HGNC:12809 XIC X chromosome inactivation center other region Approved Xq12-q13 Xq12-q13 X-inactivation center 1989-06-02 2019-10-10 7502 "6198418|1985270|12045143" -HGNC:14301 XIRP1 xin actin binding repeat containing 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "DKFZp451D042|Xin" CMYA1 cardiomyopathy associated 1 2002-04-03 2007-06-27 2015-04-29 2023-01-20 165904 ENSG00000168334 OTTHUMG00000131297 uc003cjk.3 AW755250 NM_194293 "CCDS56245|CCDS2683|CCDS87065" Q702N8 "12203715|15454575" MGI:1333878 RGD:1304776 609777 HGNC:14301 "ENST00000340369.4|NM_194293.4" -HGNC:14303 XIRP2 xin actin binding repeat containing 2 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 myomaxin CMYA3 cardiomyopathy associated 3 LIM domain containing 1218 2002-04-03 2007-06-27 2015-04-29 2023-01-20 129446 ENSG00000163092 OTTHUMG00000154027 uc002udx.4 AK056582 NM_152381 "CCDS42768|CCDS56145|CCDS56144|CCDS42769|CCDS56143" A4UGR9 "17046827|12203715|15454575" MGI:2685198 RGD:1302980 609778 HGNC:14303 "ENST00000409195.6|NM_152381.6" +HGNC:14301 XIRP1 xin actin binding repeat containing 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "DKFZp451D042|Xin" CMYA1 cardiomyopathy associated 1 2002-04-03 2007-06-27 2015-04-29 2023-01-20 165904 ENSG00000168334 OTTHUMG00000131297 uc003cjk.3 AW755250 NM_194293 "CCDS87065|CCDS2683|CCDS56245" Q702N8 "12203715|15454575" MGI:1333878 RGD:1304776 609777 HGNC:14301 "ENST00000340369.4|NM_194293.4" +HGNC:14303 XIRP2 xin actin binding repeat containing 2 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 myomaxin CMYA3 cardiomyopathy associated 3 LIM domain containing 1218 2002-04-03 2007-06-27 2015-04-29 2023-01-20 129446 ENSG00000163092 OTTHUMG00000154027 uc002udx.4 AK056582 NM_152381 "CCDS56144|CCDS42769|CCDS56143|CCDS42768|CCDS56145" A4UGR9 "17046827|12203715|15454575" MGI:2685198 RGD:1302980 609778 HGNC:14303 "ENST00000409195.6|NM_152381.6" HGNC:40679 XIRP2-AS1 XIRP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.3 02q24.3 XIRP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2019-08-16 100874011 ENSG00000254552 OTTHUMG00000165270 uc032oir.2 NR_046665 31410022 XIRP2-AS1 HGNC:40679 HGNC:12810 XIST X inactive specific transcript non-coding RNA RNA, long non-coding Approved Xq13.2 Xq13.2 "NCRNA00001|DXS1089|swd66|LINC00001" long intergenic non-protein coding RNA 1 DXS399E "X (inactive)-specific transcript|X (inactive)-specific transcript (non-protein coding)|X inactive specific transcript (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 1991-02-04 2018-05-16 2022-04-21 7503 ENSG00000229807 OTTHUMG00000021839 uc004ebm.3 M97168 NR_001564 "1985261|2034279|16778056" MGI:98974 RGD:6492187 314670 xist XIST HGNC:12810 HGNC:12811 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 "XKR1|Kx|X1k" "Kx antigen|McLeod syndrome" "NA|NAC" "Kell blood group precursor (McLeod phenotype)|XK, Kell blood group complex subunit (McLeod syndrome)|neuroacanthocytosis|neurocanthocytosis|X-linked Kx blood group" "Blood group antigens|XK related family" "454|955" 2001-06-22 2022-07-15 2023-01-20 7504 ENSG00000047597 OTTHUMG00000033171 uc004ddq.4 Z32684 NM_021083 CCDS14241 P51811 "8004674|11761473|32845802" MGI:103569 RGD:1359650 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/XK|LRG_812|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_812.xml" 314850 120562 HGNC:12811 "ENST00000378616.5|NM_021083.4" HGNC:12811 @@ -42462,48 +42464,48 @@ HGNC:55871 XNDC1N-ZNF705EP-ALG1L9P XNDC1N-ZNF705EP-ALG1L9P readthrough other rea HGNC:12814 XPA XPA, DNA damage recognition and repair factor protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "XPAC|XP1" xeroderma pigmentosum, complementation group A Xeroderma pigmentosum complementation groups 1125 1990-09-10 2016-05-23 2023-01-20 7507 ENSG00000136936 OTTHUMG00000020330 uc004axr.5 D14533 NM_000380 CCDS6729 P23025 MGI:99135 RGD:1308769 LRG_471|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_471.xml XPA 611153 120567 HGNC:12814 "ENST00000375128.5|NM_000380.4" HGNC:12814 HGNC:12816 XPC XPC complex subunit, DNA damage recognition and repair factor protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "XPCC|RAD4" xeroderma pigmentosum group C protein xeroderma pigmentosum, complementation group C Xeroderma pigmentosum complementation groups 1125 1992-10-05 2016-05-23 2023-03-15 7508 ENSG00000154767 OTTHUMG00000155526 uc011ave.3 NM_004628 CCDS46763 Q01831 1522891 MGI:103557 RGD:1305760 LRG_472|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_472.xml XPC 613208 120571 HGNC:12816 "ENST00000285021.12|NM_004628.5" HGNC:12816 HGNC:55014 XPC-AS1 XPC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 Antisense RNAs 1987 2020-05-21 2020-05-21 107986063 ENSG00000228242 XR_001740603 -HGNC:12822 XPNPEP1 X-prolyl aminopeptidase 1 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 Xaa-Pro aminopeptidase 1 "XPNPEP|XPNPEPL1|XPNPEPL" "X-prolyl aminopeptidase (aminopeptidase P)-like|X-prolyl aminopeptidase (aminopeptidase P) 1, soluble" "Aminopeptidases|M24 metallopeptidase family" "104|1442" 1993-04-15 2016-07-04 2023-01-20 7511 ENSG00000108039 OTTHUMG00000019029 uc001kyp.2 NM_001167604 "CCDS7560|CCDS81498|CCDS53576" Q9NQW7 "10871044|18515364" MGI:2180003 RGD:621274 602443 M24.009 objectId:1578 3.4.11.9 HGNC:12822 "ENST00000502935.6|NM_020383.4" +HGNC:12822 XPNPEP1 X-prolyl aminopeptidase 1 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 Xaa-Pro aminopeptidase 1 "XPNPEP|XPNPEPL1|XPNPEPL" "X-prolyl aminopeptidase (aminopeptidase P)-like|X-prolyl aminopeptidase (aminopeptidase P) 1, soluble" "Aminopeptidases|M24 metallopeptidase family" "104|1442" 1993-04-15 2016-07-04 2023-01-20 7511 ENSG00000108039 OTTHUMG00000019029 uc001kyp.2 NM_001167604 "CCDS53576|CCDS81498|CCDS7560" Q9NQW7 "10871044|18515364" MGI:2180003 RGD:621274 602443 M24.009 objectId:1578 3.4.11.9 HGNC:12822 "ENST00000502935.6|NM_020383.4" HGNC:12823 XPNPEP2 X-prolyl aminopeptidase 2 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound|Xaa-Pro aminopeptidase 2" "Aminopeptidases|M24 metallopeptidase family" "104|1442" 1998-02-18 2016-07-04 2023-01-20 7512 ENSG00000122121 OTTHUMG00000022373 uc004eut.2 U90724 NM_003399 CCDS14613 O43895 "9375790|9628831" MGI:2180001 RGD:621277 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/XPNPEP2 300145 281864 objectId:1579 3.4.11.9 HGNC:12823 "ENST00000371106.4|NM_003399.6" HGNC:28052 XPNPEP3 X-prolyl aminopeptidase 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "APP3|NPHPL1|ICP55" Intermediate Cleaving Peptidase 55 "X-prolyl aminopeptidase (aminopeptidase P) 3, putative|X-prolyl aminopeptidase 3, mitochondrial" "Aminopeptidases|M24 metallopeptidase family" "104|1442" 2006-08-02 2016-07-04 2023-01-20 63929 ENSG00000196236 OTTHUMG00000151312 uc003azh.4 NM_022098 "CCDS74869|CCDS14007" Q9NQH7 "15708373|20179356|24116217|28476889" MGI:2445217 RGD:1589063 613553 227083 M24.026 objectId:1580 HGNC:28052 "ENST00000357137.9|NM_022098.4" HGNC:28052 -HGNC:12825 XPO1 exportin 1 protein-coding gene gene with protein product Approved 2p15 02p15 "CRM1|CRM-1|emb" chromosome region maintenance 1 homolog (yeast) "exportin 1 (CRM1, yeast, homolog)|exportin 1 (CRM1 homolog, yeast)" Exportins 547 1998-05-12 2014-02-19 2023-01-20 7514 ENSG00000082898 OTTHUMG00000152316 uc002sbj.4 Y08614 NM_003400 "CCDS92765|CCDS33205" O14980 "9205132|9368044" MGI:2144013 RGD:620517 XPO1 602559 471340 objectId:3014 HGNC:12825 "ENST00000401558.7|NM_003400.4" +HGNC:12825 XPO1 exportin 1 protein-coding gene gene with protein product Approved 2p15 02p15 "CRM1|CRM-1|emb" chromosome region maintenance 1 homolog (yeast) "exportin 1 (CRM1, yeast, homolog)|exportin 1 (CRM1 homolog, yeast)" Exportins 547 1998-05-12 2014-02-19 2023-01-20 7514 ENSG00000082898 OTTHUMG00000152316 uc002sbj.4 Y08614 NM_003400 "CCDS33205|CCDS92765" O14980 "9205132|9368044" MGI:2144013 RGD:620517 XPO1 602559 471340 objectId:3014 HGNC:12825 "ENST00000401558.7|NM_003400.4" HGNC:17796 XPO4 exportin 4 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "FLJ13046|KIAA1721" Exportins 547 2003-03-10 2023-01-20 64328 ENSG00000132953 OTTHUMG00000016528 uc001unq.5 AB051508 NM_022459 CCDS41872 Q9C0E2 "11214970|10944119" MGI:1888526 RGD:1312015 611449 HGNC:17796 "ENST00000255305.11|NM_022459.5" HGNC:17675 XPO5 exportin 5 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 KIAA1291 Exportins 547 2003-03-10 2023-01-20 57510 ENSG00000124571 OTTHUMG00000014742 uc003ovp.3 AB033117 NM_020750 CCDS47430 Q9HAV4 "11777942|12426392" MGI:1913789 RGD:1311522 607845 HGNC:17675 "ENST00000265351.12|NM_020750.3" HGNC:19733 XPO6 exportin 6 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "KIAA0370|FLJ22519" RANBP20 RAN binding protein 20 Exportins 547 2002-12-03 2003-03-14 2003-03-11 2023-01-20 23214 ENSG00000169180 OTTHUMG00000176782 uc002dpa.4 AY026388 NM_001270940 "CCDS59266|CCDS42135" Q96QU8 14592989 MGI:2429950 RGD:1311491 608411 HGNC:19733 "ENST00000304658.10|NM_015171.4" HGNC:14108 XPO7 exportin 7 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "KIAA0745|EXP7" RANBP16 RAN binding protein 16 Exportins 547 2001-01-22 2003-03-14 2003-03-11 2023-03-15 23039 ENSG00000130227 OTTHUMG00000163789 uc003xaa.5 AF064729 NM_015024 CCDS47818 Q9UIA9 "11024021|15282546|29748336" MGI:1929705 RGD:1310928 606140 HGNC:14108 "ENST00000252512.14|NM_015024.5" HGNC:14108 HGNC:12826 XPOT exportin for tRNA protein-coding gene gene with protein product Approved 12q14.2 12q14.2 XPO3 "exportin, tRNA (nuclear export receptor for tRNAs)|exportin, tRNA" Exportins 547 1999-09-28 2016-03-14 2023-01-20 11260 ENSG00000184575 OTTHUMG00000168794 uc001ssb.4 AF039022 NM_007235 CCDS31852 O43592 "9660920|9512417" MGI:1920442 RGD:1305562 603180 HGNC:12826 "ENST00000332707.10|NM_007235.6" HGNC:16586 XPOTP1 exportin for tRNA pseudogene 1 pseudogene pseudogene Approved 20q11.22 20q11.22 "dJ785G19.1|XPO3P1" "exportin, tRNA (nuclear export receptor for tRNAs) pseudogene 1|exportin, tRNA pseudogene 1" 2001-09-17 2016-03-14 2016-07-22 170559 ENSG00000214185 OTTHUMG00000032292 AL035458 NG_001062 PGOHUM00000296978 HGNC:16586 -HGNC:12827 XPR1 xenotropic and polytropic retrovirus receptor 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "SYG1|X3|SLC53A1" solute carrier family 53 (phosphate exporter), member 1 xenotropic and polytropic retrovirus receptor Solute carrier family 53 2203 1999-02-19 2010-04-23 2023-03-14 9213 ENSG00000143324 OTTHUMG00000035116 uc001goi.4 AF099082 NM_004736 "CCDS1340|CCDS44284" Q9UBH6 "9990033|23791524" MGI:97932 RGD:1306554 605237 SLC53A1 431657 objectId:3021 HGNC:12827 "ENST00000367590.9|NM_004736.4" HGNC:12827 +HGNC:12827 XPR1 xenotropic and polytropic retrovirus receptor 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "SYG1|X3|SLC53A1" solute carrier family 53 (phosphate exporter), member 1 xenotropic and polytropic retrovirus receptor Solute carrier family 53 2203 1999-02-19 2010-04-23 2023-03-14 9213 ENSG00000143324 OTTHUMG00000035116 uc001goi.4 AF099082 NM_004736 "CCDS44284|CCDS1340" Q9UBH6 "9990033|23791524" MGI:97932 RGD:1306554 605237 SLC53A1 431657 objectId:3021 HGNC:12827 "ENST00000367590.9|NM_004736.4" HGNC:12827 HGNC:12828 XRCC1 X-ray repair cross complementing 1 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 RCC X-ray repair complementing defective repair in Chinese hamster cells 1 2001-06-22 2016-06-02 2023-01-20 7515 ENSG00000073050 OTTHUMG00000182699 uc002owt.3 M36089 NM_006297 CCDS12624 P18887 2247054 MGI:99137 RGD:619823 LRG_784|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_784.xml 194360 HGNC:12828 "ENST00000262887.10|NM_006297.3" HGNC:12828 HGNC:12829 XRCC2 X-ray repair cross complementing 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 FANCU RAD51-like X-ray repair complementing defective repair in Chinese hamster cells 2 FA complementation groups 548 1995-02-07 2016-06-02 2023-01-20 7516 ENSG00000196584 OTTHUMG00000151470 uc003wld.4 Y08837 NM_005431 CCDS5933 O43543 "7607692|10422536|27208205" MGI:1927345 RGD:1564823 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_323|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_323.xml" 600375 299649 HGNC:12829 "ENST00000359321.2|NM_005431.2" HGNC:12829 HGNC:12830 XRCC3 X-ray repair cross complementing 3 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 RAD51-like X-ray repair complementing defective repair in Chinese hamster cells 3 1995-08-11 2016-06-02 2023-01-20 7517 ENSG00000126215 OTTHUMG00000169228 uc001ynz.5 AF035586 NM_005432 CCDS9984 O43542 7603995 MGI:1921585 RGD:1306849 600675 HGNC:12830 "ENST00000555055.6|NM_005432.4" HGNC:12831 XRCC4 X-ray repair cross complementing 4 protein-coding gene gene with protein product Approved 5q14.2 05q14.2 "X-ray repair, complementing defective, repair in Chinese hamster|DNA repair protein XRCC4" X-ray repair complementing defective repair in Chinese hamster cells 4 1990-10-16 2016-06-02 2023-01-20 7518 ENSG00000152422 OTTHUMG00000131319 uc003kie.4 AB017445 NM_022550 "CCDS4058|CCDS4059" Q13426 "1697445|7665175" MGI:1333799 RGD:1359573 194363 460650 HGNC:12831 "ENST00000396027.9|NM_003401.5" HGNC:12831 HGNC:12833 XRCC5 X-ray repair cross complementing 5 protein-coding gene gene with protein product Approved 2q35 02q35 "KU80|KARP-1|Ku86|KUB2" Ku autoantigen, 80kDa X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD) 1992-01-22 2016-06-02 2023-01-20 7520 ENSG00000079246 OTTHUMG00000133059 uc002vfy.4 AF039597 NM_021141 CCDS2402 P13010 "9636207|9214634" MGI:104517 RGD:3976 194364 471342 3.6.4.- HGNC:12833 "ENST00000392132.7|NM_021141.4" -HGNC:4055 XRCC6 X-ray repair cross complementing 6 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "D22S731|D22S671|KU70|ML8" Ku autoantigen, 70kDa G22P1 "thyroid autoantigen 70kD (Ku antigen)|thyroid autoantigen 70kDa (Ku antigen)|X-ray repair complementing defective repair in Chinese hamster cells 6" DNA helicases 1167 1988-05-11 2005-05-06 2016-06-02 2023-01-20 2547 ENSG00000196419 OTTHUMG00000151190 uc003bao.3 J04607 NM_001469 "CCDS14021|CCDS74871|CCDS74870" P12956 "9200330|9223317" MGI:95606 RGD:2643 152690 HGNC:4055 "ENST00000360079.8|NM_001469.5" HGNC:4055 +HGNC:4055 XRCC6 X-ray repair cross complementing 6 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "D22S731|D22S671|KU70|ML8" Ku autoantigen, 70kDa G22P1 "thyroid autoantigen 70kD (Ku antigen)|thyroid autoantigen 70kDa (Ku antigen)|X-ray repair complementing defective repair in Chinese hamster cells 6" DNA helicases 1167 1988-05-11 2005-05-06 2016-06-02 2023-01-20 2547 ENSG00000196419 OTTHUMG00000151190 uc003bao.3 J04607 NM_001469 "CCDS74871|CCDS14021|CCDS74870" P12956 "9200330|9223317" MGI:95606 RGD:2643 152690 HGNC:4055 "ENST00000360079.8|NM_001469.5" HGNC:4055 HGNC:45183 XRCC6P1 X-ray repair cross complementing 6 pseudogene 1 pseudogene pseudogene Approved 10q23.33 10q23.33 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 1 2013-03-04 2016-06-02 2016-06-02 387703 ENSG00000237417 OTTHUMG00000018770 NG_028753 PGOHUM00000238588 HGNC:45183 HGNC:45184 XRCC6P2 X-ray repair cross complementing 6 pseudogene 2 pseudogene pseudogene Approved Xq28 Xq28 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 2 2013-03-04 2016-06-02 2016-06-02 389901 ENSG00000234825 OTTHUMG00000022637 PGOHUM00000241596 HGNC:45184 HGNC:45185 XRCC6P3 X-ray repair cross complementing 6 pseudogene 3 pseudogene pseudogene Approved 1q41 01q41 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 3 2013-03-04 2016-06-02 2016-06-02 127086 ENSG00000230318 OTTHUMG00000037093 NG_022752 PGOHUM00000244427 HGNC:45185 HGNC:45186 XRCC6P4 X-ray repair cross complementing 6 pseudogene 4 pseudogene pseudogene Approved 8q12.3 08q12.3 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 4 2013-03-04 2016-06-02 2016-06-02 100422546 ENSG00000253517 OTTHUMG00000164362 NG_026031 PGOHUM00000260407 HGNC:45186 HGNC:45187 XRCC6P5 X-ray repair cross complementing 6 pseudogene 5 pseudogene pseudogene Approved Xq22.1 Xq22.1 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 5 2013-03-04 2016-06-02 2016-06-02 442459 ENSG00000215070 OTTHUMG00000021996 NR_024608 PGOHUM00000263904 HGNC:45187 -HGNC:30654 XRN1 5'-3' exoribonuclease 1 protein-coding gene gene with protein product Approved 3q23 03q23 SEP1 2004-07-12 2023-01-20 54464 ENSG00000114127 OTTHUMG00000159251 uc003eus.4 AY137776 NM_019001 "CCDS63801|CCDS3123|CCDS75028" Q8IZH2 12515382 MGI:891964 RGD:1309713 607994 HGNC:30654 "ENST00000392981.7|NM_001282857.2" +HGNC:30654 XRN1 5'-3' exoribonuclease 1 protein-coding gene gene with protein product Approved 3q23 03q23 SEP1 2004-07-12 2023-01-20 54464 ENSG00000114127 OTTHUMG00000159251 uc003eus.4 AY137776 NM_019001 "CCDS63801|CCDS75028|CCDS3123" Q8IZH2 12515382 MGI:891964 RGD:1309713 607994 HGNC:30654 "ENST00000392981.7|NM_001282857.2" HGNC:12836 XRN2 5'-3' exoribonuclease 2 protein-coding gene gene with protein product Approved 20p11.22 20p11.22 1999-08-19 2023-01-20 22803 ENSG00000088930 OTTHUMG00000032025 uc002wsf.2 AF064257 NM_012255 CCDS13144 Q9H0D6 10409438 MGI:894687 RGD:1310218 608851 3.1.13.- HGNC:12836 "ENST00000377191.5|NM_012255.5" -HGNC:18868 XRRA1 X-ray radiation resistance associated 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FLJ00225 2003-08-13 2023-01-20 143570 ENSG00000166435 OTTHUMG00000165515 uc009yub.4 AK074152 NM_182969 "CCDS91535|CCDS44680|CCDS58159|CCDS58160" Q6P2D8 "12908878|17295261" MGI:2181647 RGD:1305502 609788 HGNC:18868 "ENST00000684022.1|NM_001378157.1" -HGNC:26639 XXYLT1 xyloside xylosyltransferase 1 protein-coding gene gene with protein product Approved 3q29 03q29 FLJ35155 C3orf21 chromosome 3 open reading frame 21 "Glycosyltransferase family 8|MicroRNA protein coding host genes" "436|1691" 2005-02-07 2011-10-19 2011-10-19 2023-01-20 152002 ENSG00000173950 OTTHUMG00000155915 uc003fum.5 AK075551 NM_152531 "CCDS93439|CCDS77874|CCDS43188" Q8NBI6 22117070 MGI:2146443 RGD:1308154 614552 2.4.2.n3 HGNC:26639 "ENST00000310380.11|NM_152531.5" +HGNC:18868 XRRA1 X-ray radiation resistance associated 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FLJ00225 2003-08-13 2023-01-20 143570 ENSG00000166435 OTTHUMG00000165515 uc009yub.4 AK074152 NM_182969 "CCDS58159|CCDS58160|CCDS44680|CCDS91535" Q6P2D8 "12908878|17295261" MGI:2181647 RGD:1305502 609788 HGNC:18868 "ENST00000684022.1|NM_001378157.1" +HGNC:26639 XXYLT1 xyloside xylosyltransferase 1 protein-coding gene gene with protein product Approved 3q29 03q29 FLJ35155 C3orf21 chromosome 3 open reading frame 21 "Glycosyltransferase family 8|MicroRNA protein coding host genes" "436|1691" 2005-02-07 2011-10-19 2011-10-19 2023-01-20 152002 ENSG00000173950 OTTHUMG00000155915 uc003fum.5 AK075551 NM_152531 "CCDS77874|CCDS93439|CCDS43188" Q8NBI6 22117070 MGI:2146443 RGD:1308154 614552 2.4.2.n3 HGNC:26639 "ENST00000310380.11|NM_152531.5" HGNC:41153 XXYLT1-AS1 XXYLT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 XXYLT1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2014-11-19 100874528 ENSG00000233303 OTTHUMG00000155917 uc032sny.1 BF509707 NR_104188 XXYLT1-AS1 HGNC:41153 HGNC:41154 XXYLT1-AS2 XXYLT1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q29 03q29 XXYLT1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2021-11-29 101410543 ENSG00000230266 OTTHUMG00000155916 uc031scz.2 "R83154|AW963078" NR_102710 32171981 XXYLT1-AS2 HGNC:41154 HGNC:12839 XYLB xylulokinase protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "FLJ10343|FLJ12539" "D-xylulokinase|xylulose kinase" xylulokinase homolog (H. influenzae) 1998-12-02 2016-06-30 2023-01-20 9942 ENSG00000093217 OTTHUMG00000131294 uc003cic.3 AB015046 NM_005108 "CCDS87062|CCDS2678" O75191 "23179721|9763671" MGI:2142985 RGD:1307372 604049 HGNC:12839 "ENST00000207870.8|NM_005108.4" HGNC:15516 XYLT1 xylosyltransferase 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "XT-I|PXYLT1" protein xylosyltransferase 1 xylosyltransferase I Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 2001-04-06 2016-04-05 2023-01-20 64131 ENSG00000103489 OTTHUMG00000129975 uc002dfa.4 AJ277441 NM_022166 CCDS10569 Q86Y38 "11099377|23982343" MGI:2451073 RGD:620093 608124 376942 2.4.2.26 HGNC:15516 "ENST00000261381.7|NM_022166.4" HGNC:15516 HGNC:15517 XYLT2 xylosyltransferase 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "XT-II|PXYLT2" protein xylosyltransferase 2 xylosyltransferase II Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 2001-04-06 2016-04-05 2023-01-20 64132 ENSG00000015532 OTTHUMG00000162057 uc002iqo.5 AJ277442 NM_022167 CCDS11563 Q9H1B5 11099377 MGI:2444797 RGD:619765 608125 434703 2.4.2.26 HGNC:15517 "ENST00000017003.7|NM_022167.4" HGNC:15517 -HGNC:24857 YAE1 YAE1 maturation factor of ABCE1 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "GK003|CIAB2" "C7orf36|YAE1D1" "chromosome 7 open reading frame 36|Yae1 domain containing 1|YAE1, ABCE1 maturation factor" 2004-02-02 2018-05-17 2019-01-31 2023-01-20 57002 ENSG00000241127 OTTHUMG00000128689 uc003thc.5 AF226046 NM_020192 "CCDS5459|CCDS64630" Q9NRH1 26182403 MGI:1914258 RGD:1306613 HGNC:24857 "ENST00000223273.7|NM_020192.5" +HGNC:24857 YAE1 YAE1 maturation factor of ABCE1 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "GK003|CIAB2" "C7orf36|YAE1D1" "chromosome 7 open reading frame 36|Yae1 domain containing 1|YAE1, ABCE1 maturation factor" 2004-02-02 2018-05-17 2019-01-31 2023-01-20 57002 ENSG00000241127 OTTHUMG00000128689 uc003thc.5 AF226046 NM_020192 "CCDS64630|CCDS5459" Q9NRH1 26182403 MGI:1914258 RGD:1306613 HGNC:24857 "ENST00000223273.7|NM_020192.5" HGNC:55820 YAE1-DT YAE1 divergent transcript non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 Divergent transcripts 1990 2021-07-30 2021-07-30 105375240 ENSG00000227172 XR_927188 HGNC:17363 YAF2 YY1 associated factor 2 protein-coding gene gene with protein product Approved 12q12 12q12 Zinc fingers RANBP2-type 89 2001-12-13 2023-01-20 10138 ENSG00000015153 OTTHUMG00000169380 uc001rmv.4 U72209 NM_001190977 "CCDS53780|CCDS53779|CCDS53778|CCDS31775" Q8IY57 9016636 MGI:1914307 RGD:1582851 607534 HGNC:17363 "ENST00000534854.7|NM_005748.6" HGNC:49034 YAM1 YY1-associated myogenesis RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Yam-1 YY1-associated muscle lncRNA 1 YY1-associated myogenesis 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-08-16 2013-12-06 2019-09-18 107161157 23942234 yam-1 -HGNC:16262 YAP1 Yes1 associated transcriptional regulator protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "YAP65|YAP-1" "Yes-associated protein 1, 65kDa|Yes associated protein 1" 2001-07-17 2019-12-18 2023-01-20 10413 ENSG00000137693 OTTHUMG00000167322 uc001pgt.3 NM_006106 "CCDS60945|CCDS44716|CCDS73374|CCDS60944|CCDS53700|CCDS53699|CCDS8314|CCDS73373" P46937 "7782338|18280240|10228168|25843714" MGI:103262 RGD:1306035 606608 395071 HGNC:16262 "ENST00000282441.10|NM_001130145.3" HGNC:16262 +HGNC:16262 YAP1 Yes1 associated transcriptional regulator protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "YAP65|YAP-1" "Yes-associated protein 1, 65kDa|Yes associated protein 1" 2001-07-17 2019-12-18 2023-01-20 10413 ENSG00000137693 OTTHUMG00000167322 uc001pgt.3 NM_006106 "CCDS60944|CCDS8314|CCDS53699|CCDS44716|CCDS73373|CCDS53700|CCDS60945|CCDS73374" P46937 "7782338|18280240|10228168|25843714" MGI:103262 RGD:1306035 606608 395071 HGNC:16262 "ENST00000282441.10|NM_001130145.3" HGNC:16262 HGNC:38016 YAP1P1 YAP1 pseudogene 1 pseudogene pseudogene Approved 6q24.3 06q24.3 Yes associated protein 1 pseudogene 1 2010-03-19 2021-04-12 2021-04-12 442266 ENSG00000220494 OTTHUMG00000015765 NG_022376 PGOHUM00000243810 HGNC:38016 HGNC:38017 YAP1P2 YAP1 pseudogene 2 pseudogene pseudogene Approved Xq23 Xq23 Yes associated protein 1 pseudogene 2 2010-03-19 2021-04-12 2021-04-12 100419909 ENSG00000236080 OTTHUMG00000022228 NG_022692 PGOHUM00000241958 HGNC:38017 HGNC:43890 YAP1P3 YAP1 pseudogene 3 pseudogene pseudogene Approved 6q22.32 06q22.32 Yes associated protein 1 pseudogene 3 2012-04-23 2021-04-12 2021-04-12 100419883 ENSG00000275953 NG_025861 PGOHUM00000243353 HGNC:43890 HGNC:12840 YARS1 tyrosyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "YTS|YRS|tyrRS" tyrosine tRNA ligase 1, cytoplasmic YARS tyrosyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 1999-01-29 2019-07-15 2019-07-15 2023-01-20 8565 ENSG00000134684 OTTHUMG00000003933 uc001bvy.2 U89436 NM_003680 CCDS368 P54577 "8552597|9162081" MGI:2147627 RGD:1307616 LRG_273|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_273.xml 603623 139906 ligandId:3729 6.1.1.1 HGNC:12840 "ENST00000373477.9|NM_003680.4" HGNC:12840 HGNC:24249 YARS2 tyrosyl-tRNA synthetase 2 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "FLJ13995|CGI-04|mt-TyrRS" tyrosine tRNA ligase 2, mitochondrial tyrosyl-tRNA synthetase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 2005-06-28 2015-12-04 2023-01-20 51067 ENSG00000139131 OTTHUMG00000169454 uc001rli.4 AF132939 NM_015936 CCDS31770 Q9Y2Z4 "15779907|15840810" MGI:1917370 RGD:1311696 610957 240658 6.1.1.1 HGNC:24249 "ENST00000324868.13|NM_001040436.3" HGNC:24249 -HGNC:1299 YBEY ybeY metalloendoribonuclease protein-coding gene gene with protein product Approved 21q22.3 21q22.3 C21orf57 "chromosome 21 open reading frame 57|ybeY metallopeptidase (putative)" 2000-05-23 2010-12-08 2018-04-19 2023-01-20 54059 ENSG00000182362 OTTHUMG00000090632 uc002zix.4 AK294975 NM_058181 "CCDS82687|CCDS82686|CCDS82685|CCDS33591" P58557 28153719 MGI:2656825 RGD:1308722 617461 HGNC:1299 "ENST00000397701.9|NM_001314025.2" +HGNC:1299 YBEY ybeY metalloendoribonuclease protein-coding gene gene with protein product Approved 21q22.3 21q22.3 C21orf57 "chromosome 21 open reading frame 57|ybeY metallopeptidase (putative)" 2000-05-23 2010-12-08 2018-04-19 2023-01-20 54059 ENSG00000182362 OTTHUMG00000090632 uc002zix.4 AK294975 NM_058181 "CCDS82687|CCDS82685|CCDS82686|CCDS33591" P58557 28153719 MGI:2656825 RGD:1308722 617461 HGNC:1299 "ENST00000397701.9|NM_001314025.2" HGNC:8014 YBX1 Y-box binding protein 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "YB-1|YB1|DBPB|NSEP-1|MDR-NF1|BP-8|CSDB|CSDA2" NSEP1 nuclease sensitive element binding protein 1 "Y-box binding proteins|U11/U12 di-snRNP|U11 small nuclear ribonucleoprotein" "106|1521|2045" 1993-10-20 2005-08-11 2015-11-19 2023-01-20 4904 ENSG00000065978 OTTHUMG00000007523 uc001chs.4 BC013838 NM_004559 CCDS470 P67809 "1891370|3174636|29478751" MGI:99146 RGD:61843 154030 HGNC:8014 "ENST00000321358.12|NM_004559.5" HGNC:8015 YBX1P1 Y-box binding protein 1 pseudogene 1 pseudogene pseudogene Approved 14q23.3 14q23.3 PSDBPB1 NSEP1P nuclease sensitive element binding protein 1 pseudogene 2000-04-03 2005-08-11 2015-11-19 2016-10-05 50631 ENSG00000224861 OTTHUMG00000171177 L37516 NG_001276 2977358 HGNC:8015 HGNC:22635 YBX1P2 Y-box binding protein 1 pseudogene 2 pseudogene pseudogene Approved 7q22.3 07q22.3 TCAG_1818537 2007-07-24 2015-11-19 2015-11-19 646531 ENSG00000231167 OTTHUMG00000157401 CR601484 NG_006863 PGOHUM00000250901 HGNC:22635 @@ -42518,29 +42520,29 @@ HGNC:42432 YBX1P10 Y-box binding protein 1 pseudogene 10 pseudogene pseudogene A HGNC:17948 YBX2 Y-box binding protein 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MSY2|CSDA3|Contrin" Y-box binding proteins 106 2005-08-11 2015-11-19 2023-01-20 51087 ENSG00000006047 OTTHUMG00000177992 uc002gfq.3 AF096834 NM_015982 CCDS11098 Q9Y2T7 "10100484|9780336" MGI:1096372 RGD:1305068 611447 HGNC:17948 "ENST00000007699.10|NM_015982.4" HGNC:49498 YBX2P1 YBX2 pseudogene 1 pseudogene pseudogene Approved 10q26.13 10q26.13 Y-box binding protein 2 pseudogene 1 2013-12-20 2019-12-10 2019-12-10 100124332 ENSG00000213438 OTTHUMG00000019210 NG_006652 PGOHUM00000238962 HGNC:49498 HGNC:54721 YBX2P2 YBX2 pseudogene 2 pseudogene pseudogene Approved 15q26.1 15q26.1 2019-12-10 2019-12-10 100124334 ENSG00000258611 OTTHUMG00000171782 NG_006654 PGOHUM00000293079 -HGNC:2428 YBX3 Y-box binding protein 3 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "dbpA|ZONAB|CSDA1" cold-shock domain containing A1 CSDA cold shock domain protein A Y-box binding proteins 106 1998-10-23 2013-03-13 2015-11-19 2023-01-20 8531 ENSG00000060138 OTTHUMG00000168409 uc001qyt.4 L29064 NM_003651 "CCDS8630|CCDS44831" P16989 "2977358|8710501" MGI:2137670 RGD:621056 603437 HGNC:2428 "ENST00000228251.9|NM_003651.5" +HGNC:2428 YBX3 Y-box binding protein 3 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "dbpA|ZONAB|CSDA1" cold-shock domain containing A1 CSDA cold shock domain protein A Y-box binding proteins 106 1998-10-23 2013-03-13 2015-11-19 2023-01-20 8531 ENSG00000060138 OTTHUMG00000168409 uc001qyt.4 L29064 NM_003651 "CCDS44831|CCDS8630" P16989 "2977358|8710501" MGI:2137670 RGD:621056 603437 HGNC:2428 "ENST00000228251.9|NM_003651.5" HGNC:2429 YBX3P1 Y-box binding protein 3 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 CSDAP1 cold shock domain protein A pseudogene 1 1999-07-13 2013-03-13 2015-11-19 2017-10-25 440359 ENSG00000261614 OTTHUMG00000176626 Y17508 NR_027011 10343102 PGOHUM00000293514 HGNC:2429 -HGNC:27158 YDJC YdjC chitooligosaccharide deacetylase homolog protein-coding gene gene with protein product Approved 22q11.21 22q11.21 YdjC homolog (bacterial) 2008-02-26 2017-03-30 2023-01-20 150223 ENSG00000161179 OTTHUMG00000150822 uc002zvb.4 NM_001017964 "CCDS33613|CCDS93126" A8MPS7 18177738 MGI:1916351 RGD:1359227 619770 HGNC:27158 "ENST00000292778.11|NM_001017964.2" +HGNC:27158 YDJC YdjC chitooligosaccharide deacetylase homolog protein-coding gene gene with protein product Approved 22q11.21 22q11.21 YdjC homolog (bacterial) 2008-02-26 2017-03-30 2023-01-20 150223 ENSG00000161179 OTTHUMG00000150822 uc002zvb.4 NM_001017964 "CCDS93126|CCDS33613" A8MPS7 18177738 MGI:1916351 RGD:1359227 619770 HGNC:27158 "ENST00000292778.11|NM_001017964.2" HGNC:25489 YEATS2 YEATS domain containing 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "FLJ10201|FLJ12841|FLJ13308|KIAA1197" "ATAC complex|YEATS domain containing" "1058|1283" 2004-08-18 2023-01-20 55689 ENSG00000163872 OTTHUMG00000156898 uc003fly.2 AB033023 NM_018023 CCDS43175 Q9ULM3 10574462 MGI:2447762 RGD:1566176 613373 HGNC:25489 "ENST00000305135.10|NM_018023.5" HGNC:25489 HGNC:41101 YEATS2-AS1 YEATS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 YEATS2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874113 ENSG00000233885 OTTHUMG00000156899 uc062qpn.1 NR_046727 YEATS2-AS1 HGNC:41101 -HGNC:24859 YEATS4 YEATS domain containing 4 protein-coding gene gene with protein product Approved 12q15 12q15 "NuBI-1|GAS41|YAF9" "YEATS domain containing|SRCAP complex|Tip60/Nua4 histone acetyltransferase complex subunits" "1283|1329|1634" 2004-08-18 2023-01-20 8089 ENSG00000127337 OTTHUMG00000169358 uc001sux.4 AJ245746 NM_006530 "CCDS8990|CCDS73495" O95619 "9302258|11903063" MGI:1927224 RGD:1305741 602116 HGNC:24859 "ENST00000247843.7|NM_006530.4" +HGNC:24859 YEATS4 YEATS domain containing 4 protein-coding gene gene with protein product Approved 12q15 12q15 "NuBI-1|GAS41|YAF9" "YEATS domain containing|SRCAP complex|Tip60/Nua4 histone acetyltransferase complex subunits" "1283|1329|1634" 2004-08-18 2023-01-20 8089 ENSG00000127337 OTTHUMG00000169358 uc001sux.4 AJ245746 NM_006530 "CCDS73495|CCDS8990" O95619 "9302258|11903063" MGI:1927224 RGD:1305741 602116 HGNC:24859 "ENST00000247843.7|NM_006530.4" HGNC:12841 YES1 YES proto-oncogene 1, Src family tyrosine kinase protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "Yes|c-yes|HsT441" v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1986-01-01 2014-06-26 2023-01-20 7525 ENSG00000176105 OTTHUMG00000131472 uc002kkz.4 M15990 NM_005433 CCDS11824 P07947 2983418 MGI:99147 RGD:3977 164880 objectId:2284 HGNC:12841 "ENST00000314574.5|NM_005433.4" HGNC:12842 YES1P1 YES1 pseudogene 1 pseudogene pseudogene Approved 22q12.1 22q12.1 D22S670 "SYR|YES2|YESP" v-yes-1 Yamaguchi sarcoma viral oncogene homolog pseudogene 1988-08-31 2014-06-25 2014-06-25 2014-06-25 7526 ENSG00000224003 OTTHUMG00000150872 NG_001213 PGOHUM00000246552 HGNC:12842 HGNC:16688 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "YIF1P|54TM|FinGER7" YIF1 Yip1 interacting factor homolog (S. cerevisiae) YIP family 1144 2003-05-28 2005-06-07 2016-01-18 2023-01-20 10897 ENSG00000174851 OTTHUMG00000102079 uc001ohk.5 AF004876 NM_020470 "CCDS8132|CCDS73325" O95070 "8824393|10970842|18718466" MGI:1915340 RGD:628749 611484 HGNC:16688 "ENST00000376901.9|NM_020470.3" -HGNC:30511 YIF1B Yip1 interacting factor homolog B, membrane trafficking protein protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FinGER8 Yip1 interacting factor homolog B (S. cerevisiae) YIP family 1144 2005-03-14 2016-01-18 2023-01-20 90522 ENSG00000167645 OTTHUMG00000182324 uc002ohz.3 AL833382 NM_033557 "CCDS12512|CCDS46067|CCDS46066|CCDS33010" Q5BJH7 12975309 MGI:1924504 RGD:735199 619109 HGNC:30511 "ENST00000339413.11|NM_001039672.3" HGNC:30511 +HGNC:30511 YIF1B Yip1 interacting factor homolog B, membrane trafficking protein protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FinGER8 Yip1 interacting factor homolog B (S. cerevisiae) YIP family 1144 2005-03-14 2016-01-18 2023-01-20 90522 ENSG00000167645 OTTHUMG00000182324 uc002ohz.3 AL833382 NM_033557 "CCDS33010|CCDS12512|CCDS46066|CCDS46067" Q5BJH7 12975309 MGI:1924504 RGD:735199 619109 HGNC:30511 "ENST00000339413.11|NM_001039672.3" HGNC:30511 HGNC:25231 YIPF1 Yip1 domain family member 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "DJ167A19.1|FinGER1" Yip1 domain family, member 1 Yip1 domain containing 105 2005-07-04 2015-11-11 2023-01-20 54432 ENSG00000058799 OTTHUMG00000008074 uc001cvu.4 BC009674 NM_018982 CCDS584 Q9Y548 28286305 MGI:1915532 RGD:735206 617521 HGNC:25231 "ENST00000072644.7|NM_018982.5" HGNC:28476 YIPF2 Yip1 domain family member 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC3262|FinGER2" Yip1 domain family, member 2 Yip1 domain containing 105 2005-07-04 2015-11-11 2023-01-20 78992 ENSG00000130733 OTTHUMG00000180796 uc002mqc.4 BC013014 NM_024029 "CCDS12251|CCDS82293" Q9BWQ6 28286305 MGI:1922016 RGD:1307512 617522 HGNC:28476 "ENST00000586748.6|NM_001321439.2" HGNC:21023 YIPF3 Yip1 domain family member 3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "DKFZp566C243|KLIP1|dJ337H4.3|FinGER3" C6orf109 "chromosome 6 open reading frame 109|Yip1 domain family, member 3" Yip1 domain containing 105 2003-11-25 2005-07-04 2015-11-11 2023-01-20 25844 ENSG00000137207 OTTHUMG00000014738 uc003ovl.2 AK000946 NM_015388 CCDS4899 Q9GZM5 MGI:106280 RGD:1308185 609775 HGNC:21023 "ENST00000372422.7|NM_015388.4" HGNC:28145 YIPF4 Yip1 domain family member 4 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "MGC11061|FinGER4" Yip1 domain family, member 4 Yip1 domain containing 105 2005-07-04 2015-11-11 2023-01-20 84272 ENSG00000119820 OTTHUMG00000128452 uc002rok.4 AK098486 NM_032312 CCDS1781 Q9BSR8 "21757827|26235900" MGI:1915114 RGD:1310157 617534 HGNC:28145 "ENST00000238831.9|NM_032312.4" HGNC:24877 YIPF5 Yip1 domain family member 5 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "SMAP-5|FinGER5" Yip1 domain family, member 5 Yip1 domain containing 105 2005-07-04 2015-11-11 2023-01-20 81555 ENSG00000145817 OTTHUMG00000129679 uc003lnl.6 AF318329 NM_030799 "CCDS64277|CCDS4279" Q969M3 "12975309|18718466" MGI:1914430 RGD:1359165 611483 HGNC:24877 "ENST00000274496.10|NM_030799.9" HGNC:24877 -HGNC:28304 YIPF6 Yip1 domain family member 6 protein-coding gene gene with protein product Approved Xq12-q13.1 Xq12-q13.1 "MGC21416|FinGER6" Yip1 domain family, member 6 Yip1 domain containing 105 2005-07-04 2015-11-11 2023-01-20 286451 ENSG00000181704 OTTHUMG00000021745 uc004dwz.4 BC012469 NM_173834 "CCDS56604|CCDS14389" Q96EC8 28286305 MGI:1925179 RGD:1566154 300996 HGNC:28304 "ENST00000462683.6|NM_173834.4" +HGNC:28304 YIPF6 Yip1 domain family member 6 protein-coding gene gene with protein product Approved Xq12-q13.1 Xq12-q13.1 "MGC21416|FinGER6" Yip1 domain family, member 6 Yip1 domain containing 105 2005-07-04 2015-11-11 2023-01-20 286451 ENSG00000181704 OTTHUMG00000021745 uc004dwz.4 BC012469 NM_173834 "CCDS14389|CCDS56604" Q96EC8 28286305 MGI:1925179 RGD:1566154 300996 HGNC:28304 "ENST00000462683.6|NM_173834.4" HGNC:26825 YIPF7 Yip1 domain family member 7 protein-coding gene gene with protein product Approved 4p12 04p12 "FLJ39576|FinGER9" Yip1 domain family, member 7 Yip1 domain containing 105 2005-07-04 2015-11-11 2023-01-20 285525 ENSG00000177752 OTTHUMG00000160467 uc062whs.1 AK096895 NM_182592 CCDS54766 Q8N8F6 MGI:1922831 RGD:1310766 619754 HGNC:26825 "ENST00000415895.9|NM_182592.3" -HGNC:24785 YJEFN3 YjeF N-terminal domain containing 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "hYjeF_N3-19p13.11|FLJ44968" 2008-08-19 2023-01-20 374887 ENSG00000250067 OTTHUMG00000162251 uc010ecf.3 NM_198537 "CCDS42530|CCDS54236" A6XGL0 17533573 MGI:2681845 RGD:1563236 618607 HGNC:24785 "ENST00000514277.6|NM_198537.4" +HGNC:24785 YJEFN3 YjeF N-terminal domain containing 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "hYjeF_N3-19p13.11|FLJ44968" 2008-08-19 2023-01-20 374887 ENSG00000250067 OTTHUMG00000162251 uc010ecf.3 NM_198537 "CCDS54236|CCDS42530" A6XGL0 17533573 MGI:2681845 RGD:1563236 618607 HGNC:24785 "ENST00000514277.6|NM_198537.4" HGNC:25518 YJU2 YJU2 splicing factor homolog protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ10374 CCDC94 coiled-coil domain containing 94 2006-03-24 2018-02-23 2018-02-23 2023-01-20 55702 ENSG00000105248 OTTHUMG00000181867 uc002lzv.5 AK001236 NM_018074 CCDS12124 Q9BW85 22952453 MGI:1920136 RGD:1589601 HGNC:25518 "ENST00000262962.12|NM_018074.6" HGNC:28118 YJU2B YJU2 splicing factor homolog B protein-coding gene gene with protein product Approved 19p13.13 19p13.13 MGC10471 CCDC130 coiled-coil domain containing 130 NTC associated proteins 1498 2006-08-22 2021-03-26 2021-03-26 2023-01-20 81576 ENSG00000104957 OTTHUMG00000180837 uc060uit.1 AF250306 NM_030818 CCDS12296 P13994 3203696 MGI:1914986 RGD:1307598 HGNC:28118 "ENST00000221554.13|NM_030818.4" -HGNC:16959 YKT6 YKT6 v-SNARE homolog protein-coding gene gene with protein product Approved 7p13 07p13 R-SNARE YKT6 v-SNARE homolog (S. cerevisiae) SNAREs 1124 2006-04-21 2017-03-08 2023-01-20 10652 ENSG00000106636 OTTHUMG00000129089 uc003tkm.4 BC007319 NM_006555 "CCDS87497|CCDS5482|CCDS94093" O15498 "15479160|15544955" MGI:1927550 RGD:70897 606209 HGNC:16959 "ENST00000223369.3|NM_006555.4" -HGNC:17798 YLPM1 YLP motif containing 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "ZAP|PPP1R169" protein phosphatase 1, regulatory subunit 169 C14orf170 chromosome 14 open reading frame 170 Protein phosphatase 1 regulatory subunits 694 2003-11-21 2004-07-15 2004-07-15 2023-01-20 56252 ENSG00000119596 OTTHUMG00000172503 uc001xqj.5 AK090435 NM_019589 "CCDS91906|CCDS45135" P49750 7596406 MGI:1926195 RGD:1564946 619766 HGNC:17798 "ENST00000325680.12|NM_019589.3" -HGNC:12843 YME1L1 YME1 like 1 ATPase protein-coding gene gene with protein product Approved 10p12.1 10p12.1 YME1L "YME1 (S.cerevisiae)-like 1|YME1-like 1 (S. cerevisiae)|YME1-like 1 ATPase" AAA ATPases 413 1999-04-15 2015-12-04 2023-01-20 10730 ENSG00000136758 OTTHUMG00000017853 uc001itj.4 AJ132637 NM_139312 "CCDS7152|CCDS7151|CCDS58072" Q96TA2 22262461 MGI:1351651 RGD:620764 607472 M41.026 HGNC:12843 "ENST00000376016.8|NM_014263.4" HGNC:12843 +HGNC:16959 YKT6 YKT6 v-SNARE homolog protein-coding gene gene with protein product Approved 7p13 07p13 R-SNARE YKT6 v-SNARE homolog (S. cerevisiae) SNAREs 1124 2006-04-21 2017-03-08 2023-01-20 10652 ENSG00000106636 OTTHUMG00000129089 uc003tkm.4 BC007319 NM_006555 "CCDS87497|CCDS94093|CCDS5482" O15498 "15479160|15544955" MGI:1927550 RGD:70897 606209 HGNC:16959 "ENST00000223369.3|NM_006555.4" +HGNC:17798 YLPM1 YLP motif containing 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "ZAP|PPP1R169" protein phosphatase 1, regulatory subunit 169 C14orf170 chromosome 14 open reading frame 170 Protein phosphatase 1 regulatory subunits 694 2003-11-21 2004-07-15 2004-07-15 2023-01-20 56252 ENSG00000119596 OTTHUMG00000172503 uc001xqj.5 AK090435 NM_019589 "CCDS45135|CCDS91906" P49750 7596406 MGI:1926195 RGD:1564946 619766 HGNC:17798 "ENST00000325680.12|NM_019589.3" +HGNC:12843 YME1L1 YME1 like 1 ATPase protein-coding gene gene with protein product Approved 10p12.1 10p12.1 YME1L "YME1 (S.cerevisiae)-like 1|YME1-like 1 (S. cerevisiae)|YME1-like 1 ATPase" AAA ATPases 413 1999-04-15 2015-12-04 2023-01-20 10730 ENSG00000136758 OTTHUMG00000017853 uc001itj.4 AJ132637 NM_139312 "CCDS58072|CCDS7151|CCDS7152" Q96TA2 22262461 MGI:1351651 RGD:620764 607472 M41.026 HGNC:12843 "ENST00000376016.8|NM_014263.4" HGNC:12843 HGNC:12844 YME1L1P1 YME1L1 pseudogene 1 pseudogene pseudogene Approved 22q11.1 22q11.1 YME1L2 "YME1 (S.cerevisiae)-like 2|YME1-like 2 (S. cerevisiae)|YME1-like 1 (S. cerevisiae) pseudogene 1" 1999-10-28 2010-10-15 2013-06-10 2020-09-09 23749 ENSG00000236831 OTTHUMG00000140356 NG_002636 10591208 PGOHUM00000246193 HGNC:12844 HGNC:25035 YOD1 YOD1 deubiquitinase protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZp451J1719|OTUD2|DUBA8" "YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)|YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)" OTU domain containing 669 2005-05-26 2013-06-04 2023-01-20 55432 ENSG00000180667 OTTHUMG00000036032 uc001hfe.1 NM_018566 "CCDS31002|CCDS60402" Q5VVQ6 MGI:2442596 RGD:1359726 612023 HGNC:25035 "ENST00000315927.9|NM_018566.4" HGNC:12845 YPEL1 yippee like 1 protein-coding gene gene with protein product Approved 22q11.21-q11.22 22q11.21-q11.22 "yippee (Drosophila) homolog-like 1|yippee-like 1 (Drosophila)" Yippee like family 1130 2000-05-05 2015-11-05 2023-01-20 29799 ENSG00000100027 OTTHUMG00000150830 uc002zvl.4 AF060862 NM_013313 CCDS13794 O60688 "11473580|15556292" MGI:1913303 RGD:2321291 608082 HGNC:12845 "ENST00000339468.8|NM_013313.5" @@ -42562,7 +42564,7 @@ HGNC:15867 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 protein-coding g HGNC:31681 YTHDF1P1 YTH domain family member 1 pseudogene 1 pseudogene pseudogene Approved 5q15 05q15 YTHDF1P "YTH domain family 1 pseudogene|YTH domain family, member 1 pseudogene|YTH domain family, member 1 pseudogene 1" 2004-06-01 2010-09-24 2015-11-18 2015-11-18 402220 ENSG00000251389 OTTHUMG00000162697 NG_004396 PGOHUM00000258202 HGNC:31681 HGNC:31675 YTHDF2 YTH N6-methyladenosine RNA binding protein F2 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "HGRG8|NY-REN-2|CAHL" "YTH domain family 2|YTH domain family, member 2|YTH N(6)-methyladenosine RNA binding protein 2|YTH N6-methyladenosine RNA binding protein 2" YTH domain containing N6-methyladenosine readers 2230 2004-06-01 2023-01-26 2023-01-26 51441 ENSG00000198492 OTTHUMG00000003648 uc021okf.2 AF155095 NM_016258 "CCDS53287|CCDS41296" Q9Y5A9 "10508479|22575960" MGI:2444233 RGD:1311321 610640 HGNC:31675 "ENST00000373812.8|NM_016258.3" HGNC:19865 YTHDF2P1 YTH domain family member 2 pseudogene 1 pseudogene pseudogene Approved 14q21.1 14q21.1 "HGRG8|NY-REN-2" YTHDF2P "YTH domain family, member 2 pseudogene|YTH domain family, member 2 pseudogene 1" 2004-06-01 2010-09-24 2015-11-18 2015-11-18 400209 ENSG00000270503 OTTHUMG00000184431 NG_004109 10508479 PGOHUM00000292637 HGNC:19865 -HGNC:26465 YTHDF3 YTH N6-methyladenosine RNA binding protein F3 protein-coding gene gene with protein product Approved 8q12.3 08q12.3 FLJ31657 "YTH domain family 3|YTH domain family, member 3|YTH N(6)-methyladenosine RNA binding protein 3|YTH N6-methyladenosine RNA binding protein 3" YTH domain containing N6-methyladenosine readers 2230 2004-06-01 2023-01-26 2023-01-26 253943 ENSG00000185728 OTTHUMG00000164369 uc033bnj.2 BC052970 NM_152758 "CCDS75748|CCDS75749|CCDS75747" Q7Z739 22575960 MGI:1918850 RGD:1305234 618669 HGNC:26465 "ENST00000539294.6|NM_152758.6" +HGNC:26465 YTHDF3 YTH N6-methyladenosine RNA binding protein F3 protein-coding gene gene with protein product Approved 8q12.3 08q12.3 FLJ31657 "YTH domain family 3|YTH domain family, member 3|YTH N(6)-methyladenosine RNA binding protein 3|YTH N6-methyladenosine RNA binding protein 3" YTH domain containing N6-methyladenosine readers 2230 2004-06-01 2023-01-26 2023-01-26 253943 ENSG00000185728 OTTHUMG00000164369 uc033bnj.2 BC052970 NM_152758 "CCDS75749|CCDS75748|CCDS75747" Q7Z739 22575960 MGI:1918850 RGD:1305234 618669 HGNC:26465 "ENST00000539294.6|NM_152758.6" HGNC:48728 YTHDF3-DT YTHDF3 divergent transcript non-coding RNA RNA, long non-coding Approved 8q12.3 08q12.3 YTHDF3-AS1 YTHDF3 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-06-07 2020-09-27 2020-09-27 2020-09-27 101410533 ENSG00000270673 OTTHUMG00000185282 "BM681776|BM967225|BQ631682" NR_102684 YTHDF3-AS1 HGNC:48728 HGNC:56498 YTHDF3P1 YTHDF3 pseudogene 1 pseudogene pseudogene Approved 3q21.2 03q21.2 2022-10-20 2022-10-20 127379726 ENSG00000243072 NG_115714 HGNC:12849 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "14-3-3 beta|14-3-3 alpha" YWHAA "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide" 14-3-3 phospho-serine/phospho-threonine binding proteins 1053 1993-09-20 2016-02-29 2023-01-20 7529 ENSG00000166913 OTTHUMG00000032549 uc002xmu.5 X57346 NM_003404 CCDS13339 P31946 "8617504|7890696" MGI:1891917 RGD:61998 601289 HGNC:12849 "ENST00000353703.9|NM_139323.4" @@ -42602,7 +42604,7 @@ HGNC:39029 YWHAZP8 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activatio HGNC:39030 YWHAZP9 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 9 pseudogene pseudogene Approved 11q12.1 11q12.1 2010-09-24 2016-03-01 2016-03-01 441609 NG_005491 HGNC:39030 HGNC:54939 YWHAZP10 YWHAZ pseudogene 10 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-30 2020-04-30 158781 ENSG00000217624 NG_001562 HGNC:12856 YY1 YY1 transcription factor protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "NF-E1|DELTA|UCRBP|YIN-YANG-1|INO80S" "INO80 complex subunit S|Yin and Yang 1 protein" "Zinc fingers C2H2-type|INO80 complex " "28|595" 1993-09-17 2023-01-20 7528 ENSG00000100811 OTTHUMG00000150479 uc001ygy.3 BC020324 NM_003403 CCDS9957 P25490 "1655281|7912122" MGI:99150 RGD:3982 600013 471344 HGNC:12856 "ENST00000262238.10|NM_003403.5" HGNC:12856 -HGNC:30935 YY1AP1 YY1 associated protein 1 protein-coding gene gene with protein product Approved 1q22 01q22 "YY1AP|HCCA2|YAP" 2005-02-09 2023-03-15 55249 ENSG00000163374 OTTHUMG00000035437 uc010pgi.3 BC008766 NM_139118 "CCDS55644|CCDS55643|CCDS55645|CCDS1116|CCDS1115" Q9H869 11710830 MGI:1917579 607860 HGNC:30935 "ENST00000355499.9|NM_139119.3" HGNC:30935 +HGNC:30935 YY1AP1 YY1 associated protein 1 protein-coding gene gene with protein product Approved 1q22 01q22 "YY1AP|HCCA2|YAP" 2005-02-09 2023-03-15 55249 ENSG00000163374 OTTHUMG00000035437 uc010pgi.3 BC008766 NM_139118 "CCDS55643|CCDS1116|CCDS55644|CCDS55645|CCDS1115" Q9H869 11710830 MGI:1917579 607860 HGNC:30935 "ENST00000355499.9|NM_139119.3" HGNC:30935 HGNC:45094 YY1P1 YY1 transcription factor pseudogene 1 pseudogene pseudogene Approved 10q22.1 10q22.1 2013-02-14 2013-02-14 100419963 ENSG00000230661 OTTHUMG00000018405 NG_025445 PGOHUM00000238524 HGNC:45094 HGNC:45095 YY1P2 YY1 transcription factor pseudogene 2 pseudogene pseudogene Approved 2q22.1 02q22.1 2013-02-14 2013-02-14 647012 ENSG00000229104 OTTHUMG00000153634 NR_033658 PGOHUM00000240965 HGNC:45095 HGNC:31684 YY2 YY2 transcription factor protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 ZNF631 transcription factor yin yang 2 Zinc fingers C2H2-type 28 2004-05-27 2023-01-20 404281 ENSG00000230797 OTTHUMG00000021236 uc011mjp.2 AK091850 NM_206923 CCDS14202 O15391 14702039 MGI:3837947 RGD:2324567 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/YY2 300570 HGNC:31684 "ENST00000429584.3|NM_206923.4" @@ -42612,7 +42614,7 @@ HGNC:12857 ZAN zonadhesin protein-coding gene gene with protein product Approved HGNC:12858 ZAP70 zeta chain of T cell receptor associated protein kinase 70 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "ZAP-70|STD" tyrosine-protein kinase ZAP-70 SRK SRK "SH2 domain containing|Syk family tyrosine kinases" "741|1464" 1995-05-16 2017-12-06 2023-01-20 7535 ENSG00000115085 OTTHUMG00000153060 uc002syd.2 L05148 NM_001079 "CCDS33254|CCDS33255" P43403 1423621 MGI:99613 RGD:3983 "ZAP70base: Mutation registry for autosomal recessive ZAP70 immunodeficiency|http://structure.bmc.lu.se/idbase/ZAP70base/index2.html|LRG_126|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_126.xml" 176947 120579 objectId:2285 HGNC:12858 "ENST00000264972.10|NM_001079.4" HGNC:12858 HGNC:20436 ZAR1 zygote arrest 1 protein-coding gene gene with protein product Approved 4p11 04p11 Z3CXXC6 zinc finger, 3CxxC-type 6 Zinc fingers 3CxxC-type 137 2003-02-07 2023-01-20 326340 ENSG00000182223 OTTHUMG00000102093 uc003gyd.4 AY193890 NM_175619 CCDS3483 Q86SH2 12539046 MGI:2180337 RGD:727972 607520 HGNC:20436 "ENST00000327939.4|NM_175619.3" HGNC:37116 ZAR1L zygote arrest 1 like protein-coding gene gene with protein product Approved 13q13.1 13q13.1 Z3CXXC7 zinc finger, 3CxxC-type 7 Zinc fingers 3CxxC-type 137 2009-06-23 2017-02-20 2023-01-20 646799 ENSG00000189167 OTTHUMG00000016694 uc058wfs.1 NM_001136571 CCDS45023 A6NP61 18442940 MGI:3690051 RGD:1591034 HGNC:37116 "ENST00000533490.7|NM_001136571.2" -HGNC:26245 ZBBX zinc finger B-box domain containing protein-coding gene gene with protein product Approved 3q26.1 03q26.1 FLJ23049 2008-02-18 2016-02-12 2023-01-20 79740 ENSG00000169064 OTTHUMG00000133560 uc003fep.4 AK026702 NM_024687 "CCDS3199|CCDS56296|CCDS56295" A8MT70 12477932 MGI:2674085 RGD:1308632 HGNC:26245 "ENST00000675490.1|NM_001199201.2" +HGNC:26245 ZBBX zinc finger B-box domain containing protein-coding gene gene with protein product Approved 3q26.1 03q26.1 FLJ23049 2008-02-18 2016-02-12 2023-01-20 79740 ENSG00000169064 OTTHUMG00000133560 uc003fep.4 AK026702 NM_024687 "CCDS3199|CCDS56295|CCDS56296" A8MT70 12477932 MGI:2674085 RGD:1308632 HGNC:26245 "ENST00000675490.1|NM_001199201.2" HGNC:447 ZBED1 zinc finger BED-type containing 1 protein-coding gene gene with protein product Approved Xp22.33 and Yp11 Xp22.33 and Yp11 "TRAMP|KIAA0785|DREF|hDREF" ALTE Ac-like transposable element "Zinc fingers BED-type|Pseudoautosomal region 1" "64|715" 2000-05-11 2004-01-16 2016-02-12 2023-01-20 9189 ENSG00000214717 OTTHUMG00000021069 uc022ciu.2 AB018328 NM_004729 CCDS14118 O96006 "9872452|9887332|23533661" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZBED1 300178 HGNC:447 "ENST00000652001.1|NM_001171136.2" HGNC:44004 ZBED1P1 zinc finger BED-type containing 1 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 2012-05-28 2016-02-12 2016-02-12 645145 ENSG00000250304 OTTHUMG00000161111 NG_008326 PGOHUM00000246025 HGNC:44004 HGNC:20710 ZBED2 zinc finger BED-type containing 2 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 MGC10796 Zinc fingers BED-type 64 2003-03-21 2016-02-12 2023-01-20 79413 ENSG00000177494 OTTHUMG00000074061 uc003dxy.4 BC003536 NM_024508 CCDS2960 Q9BTP6 23533661 615246 HGNC:20710 "ENST00000317012.5|NM_024508.5" @@ -42624,7 +42626,7 @@ HGNC:48646 ZBED5-AS1 ZBED5 antisense RNA 1 non-coding RNA RNA, long non-coding A HGNC:33273 ZBED6 zinc finger BED-type containing 6 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Zinc fingers BED-type|DNA transposon derived genes" "64|1415" 2010-06-28 2016-02-12 2023-01-20 100381270 ENSG00000257315 OTTHUMG00000170422 uc021phs.2 NM_001174108 CCDS55673 P86452 "20016685|20375320|23533661" MGI:3828086 RGD:9238526 613512 HGNC:33273 "ENST00000550078.3|NM_001395895.1" HGNC:55596 ZBED9-AS1 ZBED9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Antisense RNAs 1987 2021-04-30 2021-04-30 121676925 ENSG00000246350 HGNC:21720 ZBED10P zinc finger BED-type containing 10, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 "C7orf29|ZBED6CL" "chromosome 7 open reading frame 29|ZBED6 C-terminal like" 2003-07-14 2021-09-28 2021-09-28 2023-03-15 113763 ENSG00000188707 OTTHUMG00000158328 BC011406 NR_173326 Q96FA7 23533661 615252 HGNC:21720 -HGNC:16176 ZBP1 Z-DNA binding protein 1 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "dJ718J7.3|DLM1|DLM-1|DAI" DNA-dependent activator of IRFs C20orf183 chromosome 20 open reading frame 183 2001-07-17 2002-07-26 2002-07-25 2023-01-20 81030 ENSG00000124256 OTTHUMG00000032824 uc002xyo.4 AJ300575 NM_030776 "CCDS54478|CCDS13461|CCDS54477" Q9H171 11842111 MGI:1927449 RGD:619956 606750 HGNC:16176 "ENST00000371173.8|NM_030776.3" +HGNC:16176 ZBP1 Z-DNA binding protein 1 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "dJ718J7.3|DLM1|DLM-1|DAI" DNA-dependent activator of IRFs C20orf183 chromosome 20 open reading frame 183 2001-07-17 2002-07-26 2002-07-25 2023-01-20 81030 ENSG00000124256 OTTHUMG00000032824 uc002xyo.4 AJ300575 NM_030776 "CCDS54478|CCDS54477|CCDS13461" Q9H171 11842111 MGI:1927449 RGD:619956 606750 HGNC:16176 "ENST00000371173.8|NM_030776.3" HGNC:20259 ZBTB1 zinc finger and BTB domain containing 1 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "KIAA0997|ZNF909" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-01-15 2023-01-20 22890 ENSG00000126804 OTTHUMG00000171147 uc001xhh.5 AB023214 NM_001123329 "CCDS45126|CCDS32097" Q9Y2K1 10231032 MGI:2442326 RGD:1303095 616578 HGNC:20259 "ENST00000683701.1|NM_001123329.2" HGNC:20868 ZBTB2 zinc finger and BTB domain containing 2 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "KIAA1483|ZNF437|bA351K16.2" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-04-16 2023-01-20 57621 ENSG00000181472 OTTHUMG00000015834 uc003qoh.4 BC020172 NM_020861 CCDS5231 Q8N680 10819331 MGI:2685949 RGD:1306621 616595 HGNC:20868 "ENST00000325144.5|NM_020861.3" HGNC:54544 ZBTB2P1 ZBTB2 pseudogene 1 pseudogene pseudogene Approved 1p36.21 01p36.21 2019-10-11 2019-10-11 100421184 ENSG00000278480 NG_027066 HGNC:54544 @@ -42633,24 +42635,24 @@ HGNC:23847 ZBTB4 zinc finger and BTB domain containing 4 protein-coding gene gen HGNC:23836 ZBTB5 zinc finger and BTB domain containing 5 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 KIAA0354 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-15 2023-01-20 9925 ENSG00000168795 OTTHUMG00000019918 uc003zzx.4 AB002352 NM_014872 CCDS6610 O15062 9205841 MGI:1924601 RGD:1307367 616590 HGNC:23836 "ENST00000307750.5|NM_014872.3" HGNC:16764 ZBTB6 zinc finger and BTB domain containing 6 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 ZID ZNF482 zinc finger protein 482 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-15 2006-04-10 2006-04-10 2023-01-20 10773 ENSG00000186130 OTTHUMG00000020628 uc004bnh.5 X82018 NM_006626 CCDS6846 Q15916 7958847 MGI:2442998 RGD:1306007 605976 HGNC:16764 "ENST00000373659.4|NM_006626.6" HGNC:18078 ZBTB7A zinc finger and BTB domain containing 7A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FBI-1|LRF|DKFZp547O146|pokemon|ZNF857A" "zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein|lymphoma related factor|POK erythroid myeloid ontogenic factor" ZBTB7 zinc finger and BTB domain containing 7 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-01-16 2005-04-07 2023-01-20 51341 ENSG00000178951 OTTHUMG00000181792 uc002lzi.4 AF000561 NM_015898 CCDS12119 O95365 "9973611|9927193" MGI:1335091 RGD:620946 605878 HGNC:18078 "ENST00000322357.9|NM_015898.4" HGNC:18078 -HGNC:18668 ZBTB7B zinc finger and BTB domain containing 7B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "ZBTB15|c-Krox|hcKrox|ZNF857B|vGAF|ThPOK" zinc finger and BTB domain containing 15 ZFP67 zinc finger protein 67 homolog (mouse) "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2002-05-23 2005-04-07 2023-05-25 51043 ENSG00000160685 OTTHUMG00000037414 uc031ppr.2 AF007833 NM_015872 "CCDS1081|CCDS58030" O15156 "9370309|7937772|20471984" MGI:102755 RGD:1305963 607646 HGNC:18668 "ENST00000535420.6|NM_001256455.2" +HGNC:18668 ZBTB7B zinc finger and BTB domain containing 7B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "ZBTB15|c-Krox|hcKrox|ZNF857B|vGAF|ThPOK" zinc finger and BTB domain containing 15 ZFP67 zinc finger protein 67 homolog (mouse) "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2002-05-23 2005-04-07 2023-05-25 51043 ENSG00000160685 OTTHUMG00000037414 uc031ppr.2 AF007833 NM_015872 "CCDS58030|CCDS1081" O15156 "9370309|7937772|20471984" MGI:102755 RGD:1305963 607646 HGNC:18668 "ENST00000535420.6|NM_001256455.2" HGNC:31700 ZBTB7C zinc finger and BTB domain containing 7C protein-coding gene gene with protein product Approved 18q21.1 18q21.1 ZNF857C ZBTB36 zinc finger and BTB domain containing 36 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-01-07 2005-04-07 2023-01-20 201501 ENSG00000184828 OTTHUMG00000180322 uc010dnw.4 Y14591 NM_001039360 CCDS32830 A1YPR0 MGI:2443302 RGD:1591841 616591 HGNC:31700 "ENST00000590800.6|NM_001318841.2" HGNC:55846 ZBTB7C-AS1 ZBTB7C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 Antisense RNAs 1987 2021-08-13 2021-08-13 105372104 ENSG00000286583 XR_001753437 HGNC:24918 ZBTB7C-AS2 ZBTB7C antisense RNA 2 non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 "HEIL1|HsT2508" C18orf12 chromosome 18 open reading frame 12 Antisense RNAs 1987 2004-01-21 2021-08-13 2021-08-13 2021-08-13 84322 ENSG00000280197 OTTHUMG00000180217 uc060ozi.1 AB027121 NR_172886 HGNC:24918 -HGNC:24172 ZBTB8A zinc finger and BTB domain containing 8A protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "BOZF1|FLJ90065|ZNF916A" ZBTB8 zinc finger and BTB domain containing 8 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-16 2009-03-25 2009-03-25 2023-01-20 653121 ENSG00000160062 OTTHUMG00000007855 uc001bvn.4 AF548353 NM_144621 "CCDS76133|CCDS30664" Q96BR9 23329847 MGI:1920930 RGD:1308756 618742 HGNC:24172 "ENST00000373510.9|NM_001040441.3" +HGNC:24172 ZBTB8A zinc finger and BTB domain containing 8A protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "BOZF1|FLJ90065|ZNF916A" ZBTB8 zinc finger and BTB domain containing 8 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-16 2009-03-25 2009-03-25 2023-01-20 653121 ENSG00000160062 OTTHUMG00000007855 uc001bvn.4 AF548353 NM_144621 "CCDS30664|CCDS76133" Q96BR9 23329847 MGI:1920930 RGD:1308756 618742 HGNC:24172 "ENST00000373510.9|NM_001040441.3" HGNC:37057 ZBTB8B zinc finger and BTB domain containing 8B protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "RP1-27O5.1|DKFZp547H154|ZNF916B" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2009-03-25 2023-01-20 728116 ENSG00000273274 OTTHUMG00000167087 uc001bvl.5 AL442095 NM_001145720 CCDS44104 Q8NAP8 MGI:2387181 RGD:1562327 HGNC:37057 "ENST00000609129.2|NM_001145720.2" -HGNC:24094 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand protein-coding gene gene with protein product Approved 1p35.1 01p35.1 ARCH archease tRNA splicing ligase complex 1345 2005-04-08 2023-01-20 339487 ENSG00000176261 OTTHUMG00000007856 uc001bvp.4 AY151084 NM_178547 "CCDS81292|CCDS76134|CCDS365" Q8IWT0 24870230 MGI:1914356 RGD:1562249 615891 HGNC:24094 "ENST00000468695.6|NM_178547.5" +HGNC:24094 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand protein-coding gene gene with protein product Approved 1p35.1 01p35.1 ARCH archease tRNA splicing ligase complex 1345 2005-04-08 2023-01-20 339487 ENSG00000176261 OTTHUMG00000007856 uc001bvp.4 AY151084 NM_178547 "CCDS81292|CCDS365|CCDS76134" Q8IWT0 24870230 MGI:1914356 RGD:1562249 615891 HGNC:24094 "ENST00000468695.6|NM_178547.5" HGNC:19043 ZBTB8OSP1 zinc finger and BTB domain containing 8 opposite strand pseudogene 1 pseudogene pseudogene Approved 4q31.3 04q31.3 2010-09-30 2014-11-19 729566 ENSG00000183432 OTTHUMG00000161446 NG_032855 PGOHUM00000250797 HGNC:19043 HGNC:30326 ZBTB8OSP2 zinc finger and BTB domain containing 8 opposite strand pseudogene 2 pseudogene pseudogene Approved 2q37.1 02q37.1 2010-09-30 2014-11-19 729898 ENSG00000172799 OTTHUMG00000153872 NG_028934 PGOHUM00000240548 HGNC:30326 HGNC:28323 ZBTB9 zinc finger and BTB domain containing 9 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "MGC23166|ZNF919" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-01-23 2023-01-20 221504 ENSG00000213588 OTTHUMG00000140180 uc003oeq.4 AK122644 NM_152735 CCDS4780 Q96C00 12477932 MGI:1918022 RGD:1303050 HGNC:28323 "ENST00000395064.3|NM_152735.4" -HGNC:30953 ZBTB10 zinc finger and BTB domain containing 10 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "RINZF|FLJ12752" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-01-23 2023-03-15 65986 ENSG00000205189 OTTHUMG00000155016 uc064nyh.1 AK022814 NM_023929 "CCDS47880|CCDS64920" Q96DT7 "21156786|30629181" MGI:2139883 RGD:708377 618576 HGNC:30953 "ENST00000455036.8|NM_001105539.3" +HGNC:30953 ZBTB10 zinc finger and BTB domain containing 10 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "RINZF|FLJ12752" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-01-23 2023-03-15 65986 ENSG00000205189 OTTHUMG00000155016 uc064nyh.1 AK022814 NM_023929 "CCDS64920|CCDS47880" Q96DT7 "21156786|30629181" MGI:2139883 RGD:708377 618576 HGNC:30953 "ENST00000455036.8|NM_001105539.3" HGNC:16740 ZBTB11 zinc finger and BTB domain containing 11 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "ZNF-U69274|ZNF913" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-04-15 2023-01-20 27107 ENSG00000066422 OTTHUMG00000159133 uc003dve.5 U69274 NM_014415 CCDS2943 O95625 MGI:2443876 RGD:1308275 618181 HGNC:16740 "ENST00000312938.5|NM_014415.4" HGNC:16740 HGNC:48573 ZBTB11-AS1 ZBTB11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q12.3 03q12.3 Antisense RNAs 1987 2013-05-17 2019-11-27 100009676 ENSG00000256628 OTTHUMG00000159176 NR_024407 ZBTB11-AS1 HGNC:48573 HGNC:19066 ZBTB12 zinc finger and BTB domain containing 12 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G10|NG35|D6S59E" C6orf46 chromosome 6 open reading frame 46 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2002-08-13 2004-04-16 2004-04-15 2023-01-20 221527 ENSG00000204366 OTTHUMG00000031169 uc003nyd.2 BC043609 NM_181842 CCDS4727 Q9Y330 9545376 MGI:88133 RGD:1302958 HGNC:19066 "ENST00000375527.3|NM_181842.3" HGNC:37702 ZBTB12BP zinc finger and BTB domain containing 12B, pseudogene pseudogene pseudogene Approved 4p14 04p14 ZNF920 "ZBTB12B|ZBTB12P1" "zinc finger and BTB domain containing 12B|zinc finger and BTB domain containing 12 pseudogene 1" 2010-01-26 2015-10-30 2015-10-30 2021-04-27 100499252 ENSG00000180610 OTTHUMG00000160580 NG_023432 PGOHUM00000250704 HGNC:37702 HGNC:12860 ZBTB14 zinc finger and BTB domain containing 14 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 ZNF478 ZFP161 "zinc finger protein 161 homolog (mouse)|zinc finger protein 161|ZFP161 zinc finger protein" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1996-12-20 2013-01-08 2013-01-08 2023-01-20 7541 ENSG00000198081 OTTHUMG00000131563 uc021ugn.2 D89859 NM_003409 CCDS11837 O43829 9244432 MGI:1195345 RGD:628712 602126 HGNC:12860 "ENST00000651870.1|NM_001243702.2" HGNC:12930 ZBTB16 zinc finger and BTB domain containing 16 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 PLZF promyelocytic leukaemia zinc finger ZNF145 zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia) "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1993-11-01 2004-07-16 2004-07-16 2023-01-20 7704 ENSG00000109906 OTTHUMG00000168243 uc001pop.4 Z19002 NM_006006 "CCDS8367|CCDS91597" Q05516 MGI:103222 RGD:727921 ZBTB16 176797 391986 HGNC:12930 "ENST00000335953.9|NM_006006.6" HGNC:12930 -HGNC:12936 ZBTB17 zinc finger and BTB domain containing 17 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "MIZ1|pHZ-67" "ZNF151|ZNF60" "zinc finger protein 151 (pHZ-67)|zinc finger protein 60" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1994-03-16 2004-07-16 2004-07-16 2023-01-20 7709 ENSG00000116809 OTTHUMG00000009377 uc001axl.5 U20647 NM_003443 "CCDS165|CCDS55576|CCDS72712" Q13105 MGI:107410 RGD:1307143 604084 HGNC:12936 "ENST00000375743.9|NM_003443.3" +HGNC:12936 ZBTB17 zinc finger and BTB domain containing 17 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "MIZ1|pHZ-67" "ZNF151|ZNF60" "zinc finger protein 151 (pHZ-67)|zinc finger protein 60" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1994-03-16 2004-07-16 2004-07-16 2023-01-20 7709 ENSG00000116809 OTTHUMG00000009377 uc001axl.5 U20647 NM_003443 "CCDS55576|CCDS165|CCDS72712" Q13105 MGI:107410 RGD:1307143 604084 HGNC:12936 "ENST00000375743.9|NM_003443.3" HGNC:13030 ZBTB18 zinc finger and BTB domain containing 18 protein-coding gene gene with protein product Approved 1q44 01q44 "C2H2-171|TAZ-1|RP58" ZNF238 zinc finger protein 238 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1998-11-19 2013-01-09 2013-01-09 2023-03-15 10472 ENSG00000179456 OTTHUMG00000040013 uc001iad.6 U38896 NM_205768 CCDS1622 Q99592 "9568537|9013868" MGI:1353609 RGD:621548 608433 370418 HGNC:13030 "ENST00000358704.4|NM_205768.3" HGNC:13030 HGNC:13503 ZBTB20 zinc finger and BTB domain containing 20 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "ODA-8S|DKFZp566F123|DPZF" ZNF288 zinc finger protein 288 "Zinc fingers C2H2-type|BTB domain containing|MicroRNA protein coding host genes" "28|861|1691" 2001-06-25 2004-07-16 2004-07-16 2023-01-20 26137 ENSG00000181722 OTTHUMG00000159366 uc003ebn.5 AF139460 NM_015642 "CCDS2981|CCDS54626" Q9HC78 "10965110|11352661" MGI:1929213 RGD:1560387 606025 410685 HGNC:13503 "ENST00000675478.1|NM_001348800.3" HGNC:13503 HGNC:40640 ZBTB20-AS1 ZBTB20 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 ZBTB20 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100131117 ENSG00000241560 OTTHUMG00000159368 uc003ebo.3 NR_038993 ZBTB20-AS1 HGNC:40640 @@ -42662,20 +42664,20 @@ HGNC:13083 ZBTB21 zinc finger and BTB domain containing 21 protein-coding gene g HGNC:13085 ZBTB22 zinc finger and BTB domain containing 22 protein-coding gene gene with protein product Approved 6p21.3 06p21.3 "BING1|ZNF297A|fruitless|fru|ZBTB22A" ZNF297 zinc finger protein 297 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2000-07-25 2006-04-12 2006-04-12 2023-01-20 9278 ENSG00000236104 OTTHUMG00000031110 uc011jax.3 Z97183 NM_001145338 O15209 MGI:1931870 RGD:1359627 611439 HGNC:13085 "ENST00000431845.3|NM_005453.5" HGNC:21143 ZBTB24 zinc finger and BTB domain containing 24 protein-coding gene gene with protein product Approved 6q21 06q21 "KIAA0441|BIF1|PATZ2" POZ (BTB) and AT hook containing zinc finger 2 ZNF450 zinc finger protein 450 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-05-20 2004-04-16 2004-04-15 2023-01-20 9841 ENSG00000112365 OTTHUMG00000015349 uc003ptl.2 AB007901 NM_014797 CCDS34509 O43167 9455477 MGI:3039618 RGD:1306951 LRG_326|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_326.xml 614064 268103 HGNC:21143 "ENST00000230122.4|NM_014797.3" HGNC:21143 HGNC:55872 ZBTB24-DT ZBTB24 divergent transcript non-coding RNA RNA, long non-coding Approved 6q21 06q21 Divergent transcripts 1990 2021-09-08 2021-09-08 105377935 ENSG00000223537 XR_942855 -HGNC:13112 ZBTB25 zinc finger and BTB domain containing 25 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 KUP "ZNF46|C14orf51" "zinc finger protein 46 (KUP)|chromosome 14 open reading frame 51" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1991-07-12 2005-05-22 2005-05-22 2023-01-20 7597 ENSG00000089775 OTTHUMG00000141310 uc001xhf.4 X16576 NM_006977 "CCDS76689|CCDS9765" P24278 MGI:99197 RGD:735076 194541 HGNC:13112 "ENST00000608382.6|NM_006977.5" +HGNC:13112 ZBTB25 zinc finger and BTB domain containing 25 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 KUP "ZNF46|C14orf51" "zinc finger protein 46 (KUP)|chromosome 14 open reading frame 51" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1991-07-12 2005-05-22 2005-05-22 2023-01-20 7597 ENSG00000089775 OTTHUMG00000141310 uc001xhf.4 X16576 NM_006977 "CCDS9765|CCDS76689" P24278 MGI:99197 RGD:735076 194541 HGNC:13112 "ENST00000608382.6|NM_006977.5" HGNC:23383 ZBTB26 zinc finger and BTB domain containing 26 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 ZNF481 zinc finger protein 481 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-11-14 2004-04-16 2004-04-15 2023-01-20 57684 ENSG00000171448 OTTHUMG00000020627 uc004bnk.4 AB046792 NM_020924 CCDS6847 Q9HCK0 MGI:2444402 RGD:1308561 620164 HGNC:23383 "ENST00000373656.4|NM_020924.4" HGNC:16763 ZBTB32 zinc finger and BTB domain containing 32 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "TZFP|FAZF|FAXF|Rog|ZNF538|mynn" "repressor of GATA|myoneurin" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-09-23 2023-05-15 27033 ENSG00000011590 OTTHUMG00000048118 uc060xgt.1 AF130255 NM_014383 CCDS12471 Q9Y2Y4 10572087 MGI:1891838 RGD:1584121 605859 HGNC:16763 "ENST00000392197.7|NM_014383.3" HGNC:16682 ZBTB33 zinc finger and BTB domain containing 33 protein-coding gene gene with protein product Approved Xq24 Xq24 "ZNF-kaiso|kaiso|WUGSC:H_DJ525N14.1|KAISO|ZNF348" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-04-15 2023-01-20 10009 ENSG00000177485 OTTHUMG00000171159 uc004esn.2 BC042753 NM_006777 CCDS14596 Q86T24 MGI:1927290 RGD:1566309 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZBTB33 300329 HGNC:16682 "ENST00000557385.2|NM_001184742.2" HGNC:31446 ZBTB34 zinc finger and BTB domain containing 34 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "KIAA1993|MGC24652|ZNF918" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-05-27 2023-01-20 403341 ENSG00000177125 OTTHUMG00000020694 uc064vtp.1 DQ227306 NM_001099270 CCDS94483 Q8NCN2 16718364 MGI:2685195 RGD:1596130 611692 HGNC:31446 "ENST00000319119.5|NM_001099270.4" -HGNC:28365 ZBTB37 zinc finger and BTB domain containing 37 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "MGC2629|ZNF908" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-08-25 2023-01-20 84614 ENSG00000185278 OTTHUMG00000037274 uc021pfb.2 AK057310 NM_032522 "CCDS1312|CCDS86033|CCDS44278" Q5TC79 12477932 MGI:2444467 RGD:1308731 HGNC:28365 "ENST00000367701.10|NM_001122770.3" +HGNC:28365 ZBTB37 zinc finger and BTB domain containing 37 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "MGC2629|ZNF908" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-08-25 2023-01-20 84614 ENSG00000185278 OTTHUMG00000037274 uc021pfb.2 AK057310 NM_032522 "CCDS44278|CCDS1312|CCDS86033" Q5TC79 12477932 MGI:2444467 RGD:1308731 HGNC:28365 "ENST00000367701.10|NM_001122770.3" HGNC:26636 ZBTB38 zinc finger and BTB domain containing 38 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ35036|CIBZ|ZNF921|PPP1R171" protein phosphatase 1, regulatory subunit 171 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-04-12 2023-01-20 253461 ENSG00000177311 OTTHUMG00000160128 uc062olr.1 BC015444 NM_001080412 CCDS43157 Q8NAP3 "18375381|21188497|24726359" MGI:2442866 RGD:1310136 612218 HGNC:26636 "ENST00000321464.7|NM_001376113.1" HGNC:29014 ZBTB39 zinc finger and BTB domain containing 39 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "KIAA0352|ZNF922" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-05-09 2023-01-20 9880 ENSG00000166860 OTTHUMG00000171007 uc001sml.3 AB002350 NM_014830 CCDS31839 O15060 9205841 MGI:2443316 RGD:1306532 619384 HGNC:29014 "ENST00000300101.3|NM_014830.3" -HGNC:29045 ZBTB40 zinc finger and BTB domain containing 40 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA0478|ZNF923" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-05-09 2023-01-20 9923 ENSG00000184677 OTTHUMG00000002897 uc001bft.2 AB007947 NM_014870 "CCDS81278|CCDS224" Q9NUA8 MGI:2682254 RGD:1309866 612106 HGNC:29045 "ENST00000375647.5|NM_014870.4" +HGNC:29045 ZBTB40 zinc finger and BTB domain containing 40 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA0478|ZNF923" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-05-09 2023-01-20 9923 ENSG00000184677 OTTHUMG00000002897 uc001bft.2 AB007947 NM_014870 "CCDS224|CCDS81278" Q9NUA8 MGI:2682254 RGD:1309866 612106 HGNC:29045 "ENST00000375647.5|NM_014870.4" HGNC:41493 ZBTB40-IT1 ZBTB40 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 ZBTB40 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874345 ENSG00000237200 OTTHUMG00000040025 uc057ddu.1 618485 ZBTB40-IT1 HGNC:24819 ZBTB41 zinc finger and BTB domain containing 41 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "FRBZ1|FLJ36199|DKFZp686C06120|ZNF924" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-05-12 2023-01-20 360023 ENSG00000177888 OTTHUMG00000036275 uc001gtx.2 NM_194314 CCDS30960 Q5SVQ8 MGI:2444487 RGD:1560834 HGNC:24819 "ENST00000367405.5|NM_194314.3" HGNC:32550 ZBTB42 zinc finger and BTB domain containing 42 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 ZNF925 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2006-03-15 2023-01-20 100128927 ENSG00000179627 OTTHUMG00000170790 uc021sem.3 AX721091 NM_001137601 CCDS45174 B2RXF5 MGI:3644133 RGD:1582758 613915 471346 HGNC:32550 "ENST00000342537.8|NM_001137601.3" HGNC:32550 HGNC:17908 ZBTB43 zinc finger and BTB domain containing 43 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "KIAA0414|ZNF-X|FLJ22470|ZBTB22B" ZNF297B zinc finger protein 297B "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2002-01-29 2006-04-12 2006-04-12 2023-01-20 23099 ENSG00000169155 OTTHUMG00000020693 uc010mxf.4 AF049907 NM_001135776 CCDS6867 O43298 MGI:1919084 RGD:1310287 618676 HGNC:17908 "ENST00000373464.5|NM_014007.4" -HGNC:25001 ZBTB44 zinc finger and BTB domain containing 44 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "HSPC063|ZNF851" BTBD15 BTB (POZ) domain containing 15 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-03-13 2006-09-19 2006-09-19 2023-01-20 29068 ENSG00000196323 OTTHUMG00000165769 uc001qgb.5 AK024659 NM_014155 "CCDS44776|CCDS73414|CCDS91625|CCDS73415" Q8NCP5 11042152 MGI:1925123 RGD:1308984 HGNC:25001 "ENST00000357899.9|NM_001301098.2" +HGNC:25001 ZBTB44 zinc finger and BTB domain containing 44 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "HSPC063|ZNF851" BTBD15 BTB (POZ) domain containing 15 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-03-13 2006-09-19 2006-09-19 2023-01-20 29068 ENSG00000196323 OTTHUMG00000165769 uc001qgb.5 AK024659 NM_014155 "CCDS73414|CCDS73415|CCDS44776|CCDS91625" Q8NCP5 11042152 MGI:1925123 RGD:1308984 HGNC:25001 "ENST00000357899.9|NM_001301098.2" HGNC:54265 ZBTB44-DT ZBTB44 divergent transcript non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 Divergent transcripts 1990 2019-04-24 2019-04-24 646383 ENSG00000175773 NR_148980 HGNC:54265 HGNC:23715 ZBTB45 zinc finger and BTB domain containing 45 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ14486 ZNF499 zinc finger protein 499 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-03 2006-09-19 2006-09-19 2023-01-20 84878 ENSG00000119574 OTTHUMG00000183545 uc002qtf.4 AK027392 NM_032792 CCDS12984 Q96K62 MGI:2685003 RGD:1310920 HGNC:23715 "ENST00000594051.6|NM_001316979.2" HGNC:49227 ZBTB45P1 zinc finger and BTB domain containing 45 pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 2013-10-10 2013-10-10 645129 ENSG00000225108 OTTHUMG00000154978 NG_011684 PGOHUM00000240247 HGNC:49227 @@ -42683,13 +42685,13 @@ HGNC:49228 ZBTB45P2 zinc finger and BTB domain containing 45 pseudogene 2 pseudo HGNC:16094 ZBTB46 zinc finger and BTB domain containing 46 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ13502|RINZF|BZEL" BTB-ZF protein expressed in effector lymphocytes "ZNF340|BTBD4" BTB (POZ) domain containing 4 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2001-07-17 2006-09-19 2006-09-19 2023-01-20 140685 ENSG00000130584 OTTHUMG00000033001 uc061ypq.1 AK131482 NM_025224 CCDS13538 Q86UZ6 MGI:1919397 RGD:1307408 614639 HGNC:16094 "ENST00000245663.9|NM_001369741.1" HGNC:40753 ZBTB46-AS1 ZBTB46 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2014-06-13 2014-11-19 101928604 ENSG00000231208 OTTHUMG00000032990 NR_110081 ZBTB46-AS1 HGNC:40753 HGNC:40752 ZBTB46-AS2 ZBTB46 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2021-07-28 2021-07-28 122152329 ENSG00000229299 OTTHUMG00000032989 -HGNC:26955 ZBTB47 zinc finger and BTB domain containing 47 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "KIAA1190|DKFZp434N0615" ZNF651 zinc finger protein 651 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-01-07 2006-09-19 2006-09-19 2023-01-20 92999 ENSG00000114853 OTTHUMG00000156207 uc003clu.3 AB033016 NM_145166 "CCDS93251|CCDS46805" Q9UFB7 10574461 MGI:2670992 RGD:1562434 619969 HGNC:26955 "ENST00000232974.11|NM_145166.4" HGNC:26955 +HGNC:26955 ZBTB47 zinc finger and BTB domain containing 47 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "KIAA1190|DKFZp434N0615" ZNF651 zinc finger protein 651 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-01-07 2006-09-19 2006-09-19 2023-01-20 92999 ENSG00000114853 OTTHUMG00000156207 uc003clu.3 AB033016 NM_145166 "CCDS46805|CCDS93251" Q9UFB7 10574461 MGI:2670992 RGD:1562434 619969 HGNC:26955 "ENST00000232974.11|NM_145166.4" HGNC:26955 HGNC:41174 ZBTB47-AS1 ZBTB47 and NKTR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 Antisense RNAs 1987 2021-07-23 2021-07-23 101928323 ENSG00000230084 OTTHUMG00000156209 NR_125400 HGNC:4930 ZBTB48 zinc finger and BTB domain containing 48 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "ZNF855|TZAP" telomeric zinc finger-associated protein HKR3 GLI-Kruppel family member HKR3 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1989-05-29 2006-09-20 2006-09-20 2023-01-20 3104 ENSG00000204859 OTTHUMG00000001438 uc001anx.5 BC013573 NM_005341 CCDS84 P10074 "2850480|8661141|28082411" MGI:2140248 RGD:1311581 165270 HGNC:4930 "ENST00000377674.9|NM_005341.4" HGNC:19883 ZBTB49 zinc finger and BTB domain containing 49 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ38559 ZNF509 zinc finger protein 509 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-15 2010-01-26 2010-01-26 2023-01-20 166793 ENSG00000168826 OTTHUMG00000090325 uc003ghu.4 AK095878 NM_145291 CCDS3375 Q6ZSB9 25245946 MGI:1922329 RGD:1306733 616238 HGNC:19883 "ENST00000337872.9|NM_145291.4" -HGNC:24277 ZC2HC1A zinc finger C2HC-type containing 1A protein-coding gene gene with protein product Approved 8q21.13 08q21.13 CGI-62 "C8orf70|FAM164A" "chromosome 8 open reading frame 70|family with sequence similarity 164, member A" Zinc fingers C2HC-type 66 2005-09-22 2012-02-03 2016-02-12 2023-01-20 51101 ENSG00000104427 OTTHUMG00000164619 uc003ybd.4 NM_016010 "CCDS6223|CCDS94321" Q96GY0 10810093 MGI:1914556 RGD:1311970 HGNC:24277 "ENST00000263849.9|NM_016010.3" +HGNC:24277 ZC2HC1A zinc finger C2HC-type containing 1A protein-coding gene gene with protein product Approved 8q21.13 08q21.13 CGI-62 "C8orf70|FAM164A" "chromosome 8 open reading frame 70|family with sequence similarity 164, member A" Zinc fingers C2HC-type 66 2005-09-22 2012-02-03 2016-02-12 2023-01-20 51101 ENSG00000104427 OTTHUMG00000164619 uc003ybd.4 NM_016010 "CCDS94321|CCDS6223" Q96GY0 10810093 MGI:1914556 RGD:1311970 HGNC:24277 "ENST00000263849.9|NM_016010.3" HGNC:21174 ZC2HC1B zinc finger C2HC-type containing 1B protein-coding gene gene with protein product Approved 6q24.2 06q24.2 dJ468K18.5 "FAM164B|C6orf94" "family with sequence similarity 164, member B|chromosome 6 open reading frame 94" Zinc fingers C2HC-type 66 2003-11-26 2012-02-03 2016-02-12 2023-01-20 153918 ENSG00000118491 OTTHUMG00000015734 uc010khk.4 BC146950 NM_001013623 CCDS47495 Q5TFG8 MGI:1922372 RGD:2319701 HGNC:21174 "ENST00000237275.9|NM_001013623.3" -HGNC:20354 ZC2HC1C zinc finger C2HC-type containing 1C protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "C14orf140|FAM164C" "chromosome 14 open reading frame 140|family with sequence similarity 164, member C" Zinc fingers C2HC-type 66 2003-01-28 2012-02-03 2016-02-12 2023-01-20 79696 ENSG00000119703 OTTHUMG00000167439 uc001xrh.5 AK026746 NM_001042430 "CCDS81829|CCDS41972|CCDS45138" Q53FD0 MGI:1919600 RGD:1307122 HGNC:20354 "ENST00000524913.3|NM_024643.4" +HGNC:20354 ZC2HC1C zinc finger C2HC-type containing 1C protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "C14orf140|FAM164C" "chromosome 14 open reading frame 140|family with sequence similarity 164, member C" Zinc fingers C2HC-type 66 2003-01-28 2012-02-03 2016-02-12 2023-01-20 79696 ENSG00000119703 OTTHUMG00000167439 uc001xrh.5 AK026746 NM_001042430 "CCDS41972|CCDS81829|CCDS45138" Q53FD0 MGI:1919600 RGD:1307122 HGNC:20354 "ENST00000524913.3|NM_024643.4" HGNC:28972 ZC3H3 zinc finger CCCH-type containing 3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA0150 ZC3HDC3 zinc finger CCCH-type domain containing 3 Zinc fingers CCCH-type 73 2004-01-30 2005-06-02 2005-06-02 2023-01-20 23144 ENSG00000014164 OTTHUMG00000165127 uc003yyd.3 D63484 NM_015117 CCDS6402 Q8IXZ2 8590280 MGI:2663721 RGD:1307276 618640 HGNC:28972 "ENST00000262577.6|NM_015117.3" HGNC:17808 ZC3H4 zinc finger CCCH-type containing 4 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 KIAA1064 C19orf7 chromosome 19 open reading frame 7 "Zinc fingers CCCH-type|Armadillo like helical domain containing" "73|1492" 2001-12-14 2007-10-18 2007-10-18 2023-01-20 23211 ENSG00000130749 OTTHUMG00000183442 uc002pga.5 AB028987 NM_015168 CCDS42582 Q9UPT8 MGI:2682314 RGD:1596943 619498 HGNC:17808 "ENST00000253048.10|NM_015168.2" HGNC:24762 ZC3H6 zinc finger CCCH-type containing 6 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FLJ41410|FLJ45877|KIAA2035" ZC3HDC6 zinc finger CCCH-type domain containing 6 Zinc fingers CCCH-type 73 2004-03-19 2005-06-02 2005-06-02 2023-01-20 376940 ENSG00000188177 OTTHUMG00000153286 uc002thq.2 AK123404 NM_198581 CCDS46393 P61129 MGI:1926001 RGD:1311061 HGNC:24762 "ENST00000409871.6|NM_198581.3" @@ -42702,62 +42704,62 @@ HGNC:25659 ZC3H11B zinc finger CCCH-type containing 11B protein-coding gene gene HGNC:56304 ZC3H11C zinc finger CCCH-type containing 11C protein-coding gene gene with protein product Approved 6q12 06q12 2022-08-24 2023-01-20 441155 ENSG00000214558 NM_001271675 CCDS93939 P0DQW0 HGNC:26259 ZC3H12A zinc finger CCCH-type containing 12A protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ23231|MCPIP1|Regnase-1" MCP induced protein 1 "Zinc fingers CCCH-type|MicroRNA protein coding host genes" "73|1691" 2005-06-03 2023-01-20 80149 ENSG00000163874 OTTHUMG00000004221 uc001cbb.5 NM_025079 CCDS417 Q5D1E8 "18178554|22055188|30988100" MGI:2385891 RGD:1306776 610562 HGNC:26259 "ENST00000373087.7|NM_025079.3" HGNC:17407 ZC3H12B zinc finger CCCH-type containing 12B protein-coding gene gene with protein product Approved Xq11.2-q12 Xq11.2-q12 MCPIP2 MCP induced protein 2 CXorf32 chromosome X open reading frame 32 Zinc fingers CCCH-type 73 2004-08-16 2005-06-14 2005-06-14 2023-01-20 340554 ENSG00000102053 OTTHUMG00000021719 uc010nko.3 BX647241 NM_001010888 CCDS48131 Q5HYM0 18178554 MGI:2442133 RGD:1560891 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZC3H12B 300889 HGNC:17407 "ENST00000338957.5|NM_001010888.4" HGNC:17407 -HGNC:29362 ZC3H12C zinc finger CCCH-type containing 12C protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "KIAA1726|MCPIP3" MCP induced protein 3 Zinc fingers CCCH-type 73 2005-06-14 2023-01-20 85463 ENSG00000149289 OTTHUMG00000166572 uc010rwd.3 NM_033390 "CCDS91583|CCDS44727" Q9C0D7 "11214970|18178554" MGI:3026959 RGD:1565078 615001 HGNC:29362 "ENST00000278590.8|NM_033390.2" +HGNC:29362 ZC3H12C zinc finger CCCH-type containing 12C protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "KIAA1726|MCPIP3" MCP induced protein 3 Zinc fingers CCCH-type 73 2005-06-14 2023-01-20 85463 ENSG00000149289 OTTHUMG00000166572 uc010rwd.3 NM_033390 "CCDS44727|CCDS91583" Q9C0D7 "11214970|18178554" MGI:3026959 RGD:1565078 615001 HGNC:29362 "ENST00000278590.8|NM_033390.2" HGNC:21175 ZC3H12D zinc finger CCCH-type containing 12D protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "dJ281H8.1|MCPIP4" MCP induced protein 4 C6orf95 chromosome 6 open reading frame 95 Zinc fingers CCCH-type 73 2003-11-26 2005-06-30 2005-06-30 2023-01-20 340152 ENSG00000178199 OTTHUMG00000015786 uc010kid.4 NM_207360 CCDS47500 A2A288 18178554 MGI:3045313 RGD:1597152 611106 HGNC:21175 "ENST00000409806.8|NM_207360.3" -HGNC:20368 ZC3H13 zinc finger CCCH-type containing 13 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "DKFZp434D1812|Xio" KIAA0853 KIAA0853 "Zinc fingers CCCH-type|WTAP complex" "73|1420" 2003-11-21 2006-05-15 2006-05-15 2023-01-20 23091 ENSG00000123200 OTTHUMG00000016863 uc001vas.3 AB020660 NM_015070 "CCDS9400|CCDS91804|CCDS81766" Q5T200 10048485 MGI:1914552 RGD:1307729 616453 HGNC:20368 "ENST00000679008.1|NM_001330564.2" -HGNC:20509 ZC3H14 zinc finger CCCH-type containing 14 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "FLJ11806|UKp68|NY-REN-37" Zinc fingers CCCH-type 73 2006-05-15 2023-01-20 79882 ENSG00000100722 OTTHUMG00000170803 uc001xww.4 AF155107 NM_024824 "CCDS55938|CCDS32136|CCDS32134|CCDS32135|CCDS32133|CCDS86417|CCDS86418" Q6PJT7 10508479 MGI:1919824 RGD:621850 613279 285406 HGNC:20509 "ENST00000251038.10|NM_024824.5" HGNC:20509 +HGNC:20368 ZC3H13 zinc finger CCCH-type containing 13 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "DKFZp434D1812|Xio" KIAA0853 KIAA0853 "Zinc fingers CCCH-type|WTAP complex" "73|1420" 2003-11-21 2006-05-15 2006-05-15 2023-01-20 23091 ENSG00000123200 OTTHUMG00000016863 uc001vas.3 AB020660 NM_015070 "CCDS91804|CCDS9400|CCDS81766" Q5T200 10048485 MGI:1914552 RGD:1307729 616453 HGNC:20368 "ENST00000679008.1|NM_001330564.2" +HGNC:20509 ZC3H14 zinc finger CCCH-type containing 14 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "FLJ11806|UKp68|NY-REN-37" Zinc fingers CCCH-type 73 2006-05-15 2023-01-20 79882 ENSG00000100722 OTTHUMG00000170803 uc001xww.4 AF155107 NM_024824 "CCDS86417|CCDS32133|CCDS55938|CCDS32135|CCDS32134|CCDS32136|CCDS86418" Q6PJT7 10508479 MGI:1919824 RGD:621850 613279 285406 HGNC:20509 "ENST00000251038.10|NM_024824.5" HGNC:20509 HGNC:29528 ZC3H15 zinc finger CCCH-type containing 15 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 LEREPO4 likely ortholog of mouse immediate early response, erythropoietin 4 Zinc fingers CCCH-type 73 2006-11-06 2023-01-20 55854 ENSG00000065548 OTTHUMG00000154251 uc002upo.4 NM_018471 CCDS42791 Q8WU90 10880228 MGI:1919747 RGD:1359234 619704 HGNC:29528 "ENST00000337859.11|NM_018471.3" -HGNC:25091 ZC3H18 zinc finger CCCH-type containing 18 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 NHN1 Zinc fingers CCCH-type 73 2007-11-13 2023-01-20 124245 ENSG00000158545 OTTHUMG00000137679 uc002fky.4 BC001584 NM_144604 "CCDS10967|CCDS73924" Q86VM9 17579712 MGI:1923264 RGD:1303257 HGNC:25091 "ENST00000301011.10|NM_144604.4" +HGNC:25091 ZC3H18 zinc finger CCCH-type containing 18 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 NHN1 Zinc fingers CCCH-type 73 2007-11-13 2023-01-20 124245 ENSG00000158545 OTTHUMG00000137679 uc002fky.4 BC001584 NM_144604 "CCDS73924|CCDS10967" Q86VM9 17579712 MGI:1923264 RGD:1303257 HGNC:25091 "ENST00000301011.10|NM_144604.4" HGNC:33799 ZC3H18-AS1 ZC3H18 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 FLJ45530 "C16orf85|LINC00859" "chromosome 16 open reading frame 85|long intergenic non-protein coding RNA 859" Antisense RNAs 1987 2007-12-14 2013-10-15 2013-10-15 2023-03-15 400555 AK127438 NR_146877 HGNC:33799 -HGNC:23721 ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 protein-coding gene gene with protein product Approved 7q34 07q34 "ZAP|FLB6421|FLJ13288|MGC48898|ZC3HDC2|ZC3H2|PARP13|ARTD13" "zinc finger antiviral protein|CCCH-type zinc finger antiviral protein" "Zinc fingers CCCH-type|Poly(ADP-ribose) polymerases" "73|684" 2003-12-11 2016-02-12 2023-01-20 56829 ENSG00000105939 OTTHUMG00000157471 uc003vun.4 BX571742 NM_020119 "CCDS5851|CCDS55171|CCDS94214" Q7Z2W4 "12215647|12851707|25635049" MGI:1926031 RGD:628694 607312 HGNC:23721 "ENST00000242351.10|NM_020119.4" +HGNC:23721 ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 protein-coding gene gene with protein product Approved 7q34 07q34 "ZAP|FLB6421|FLJ13288|MGC48898|ZC3HDC2|ZC3H2|PARP13|ARTD13" "zinc finger antiviral protein|CCCH-type zinc finger antiviral protein" "Zinc fingers CCCH-type|Poly(ADP-ribose) polymerases" "73|684" 2003-12-11 2016-02-12 2023-01-20 56829 ENSG00000105939 OTTHUMG00000157471 uc003vun.4 BX571742 NM_020119 "CCDS55171|CCDS94214|CCDS5851" Q7Z2W4 "12215647|12851707|25635049" MGI:1926031 RGD:628694 607312 HGNC:23721 "ENST00000242351.10|NM_020119.4" HGNC:22423 ZC3HAV1L zinc finger CCCH-type containing, antiviral 1 like protein-coding gene gene with protein product Approved 7q34 07q34 MGC14289 C7orf39 chromosome 7 open reading frame 39 2006-07-03 2016-02-12 2023-01-20 92092 ENSG00000146858 OTTHUMG00000157229 uc003vum.1 BC008842 NM_080660 CCDS5850 Q96H79 MGI:2443387 RGD:1309236 HGNC:22423 "ENST00000275766.2|NM_080660.4" -HGNC:29913 ZC3HC1 zinc finger C3HC-type containing 1 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 NIPA nuclear interaction partner of ALK Zinc fingers 26 2004-11-19 2016-02-12 2023-01-20 51530 ENSG00000091732 OTTHUMG00000157648 uc003vpi.4 AF151050 NM_016478 "CCDS34753|CCDS64767|CCDS75659|CCDS87546" Q86WB0 11042152 MGI:1916023 RGD:1561099 619746 HGNC:29913 "ENST00000358303.9|NM_016478.5" -HGNC:24931 ZC4H2 zinc finger C4H2-type containing protein-coding gene gene with protein product Approved Xq11.2 Xq11.2 HCA127 "KIAA1166|WWS|MCS|MRXS4" "KIAA1166|Wieacker-Wolff syndrome|zinc finger, C4H2 domain containing|Miles-Carpenter X-linked mental retardation syndrome" Zinc fingers 26 2004-08-09 2008-10-01 2016-02-10 2023-01-20 55906 ENSG00000126970 OTTHUMG00000021712 uc004dvu.4 AF270491 NM_018684 "CCDS55432|CCDS55431|CCDS14380" Q9NQZ6 "10574461|12097419|23623388|26056227" MGI:2679294 RGD:1561708 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZC4H2 300897 353728 HGNC:24931 "ENST00000374839.8|NM_018684.4" HGNC:24931 +HGNC:29913 ZC3HC1 zinc finger C3HC-type containing 1 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 NIPA nuclear interaction partner of ALK Zinc fingers 26 2004-11-19 2016-02-12 2023-01-20 51530 ENSG00000091732 OTTHUMG00000157648 uc003vpi.4 AF151050 NM_016478 "CCDS75659|CCDS87546|CCDS34753|CCDS64767" Q86WB0 11042152 MGI:1916023 RGD:1561099 619746 HGNC:29913 "ENST00000358303.9|NM_016478.5" +HGNC:24931 ZC4H2 zinc finger C4H2-type containing protein-coding gene gene with protein product Approved Xq11.2 Xq11.2 HCA127 "KIAA1166|WWS|MCS|MRXS4" "KIAA1166|Wieacker-Wolff syndrome|zinc finger, C4H2 domain containing|Miles-Carpenter X-linked mental retardation syndrome" Zinc fingers 26 2004-08-09 2008-10-01 2016-02-10 2023-01-20 55906 ENSG00000126970 OTTHUMG00000021712 uc004dvu.4 AF270491 NM_018684 "CCDS14380|CCDS55432|CCDS55431" Q9NQZ6 "10574461|12097419|23623388|26056227" MGI:2679294 RGD:1561708 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZC4H2 300897 353728 HGNC:24931 "ENST00000374839.8|NM_018684.4" HGNC:24931 HGNC:22916 ZCCHC2 zinc finger CCHC-type containing 2 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "FLJ20281|KIAA1744|FLJ20222" C18orf49 chromosome 18 open reading frame 49 Zinc fingers CCHC-type 74 2003-07-23 2016-02-12 2023-01-20 54877 ENSG00000141664 OTTHUMG00000180165 uc002lip.5 AB051531 NM_017742 CCDS45880 Q9C0B9 11214970 MGI:2444114 RGD:1310626 620095 HGNC:22916 "ENST00000269499.10|NM_017742.6" HGNC:16230 ZCCHC3 zinc finger CCHC-type containing 3 protein-coding gene gene with protein product Approved 20p13 20p13 dJ1103G7.7 C20orf99 chromosome 20 open reading frame 99 Zinc fingers CCHC-type 74 2001-07-17 2004-07-14 2016-02-12 2023-01-20 85364 ENSG00000247315 OTTHUMG00000188280 uc032oxz.2 AL034548 NM_033089 CCDS42844 Q9NUD5 MGI:1915167 RGD:1585203 618326 HGNC:16230 "ENST00000500893.4|NM_033089.7" HGNC:22917 ZCCHC4 zinc finger CCHC-type containing 4 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "HSPC052|FLJ23024|ZGRF4" "zinc finger, GRF-type containing 4|rRNA N6-adenosine-methyltransferase ZCCHC4" "Zinc fingers CCHC-type|Zinc fingers GRF-type|7BS N6-adenosine DNA/RNA methyltransferases" "74|135|2061" 2003-08-14 2016-02-12 2023-01-20 29063 ENSG00000168228 OTTHUMG00000160563 uc003grl.5 AF161537 NM_001318148 CCDS43218 Q9H5U6 "31328227|31695039" MGI:1926046 RGD:1311414 611792 HGNC:22917 "ENST00000302874.9|NM_024936.3" HGNC:26209 ZCCHC7 zinc finger CCHC-type containing 7 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "FLJ22611|AIR1" Zinc fingers CCHC-type 74 2004-02-09 2016-02-12 2023-01-20 84186 ENSG00000147905 OTTHUMG00000019915 uc003zzq.4 AK026264 NM_032226 CCDS6608 Q8N3Z6 MGI:2442912 RGD:1310467 HGNC:26209 "ENST00000336755.10|NM_032226.3" -HGNC:25265 ZCCHC8 zinc finger CCHC-type containing 8 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 DKFZp434E2220 "Zinc fingers CCHC-type|Nuclear exosome targeting complex" "74|1316" 2004-02-17 2016-02-12 2023-01-20 55596 ENSG00000033030 OTTHUMG00000168878 uc284ngs.1 BC017704 NM_017612 "CCDS91763|CCDS86340" Q6NZY4 "16263084|21855801" MGI:1917900 RGD:1309774 616381 HGNC:25265 "ENST00000633063.3|NM_017612.5" HGNC:25265 +HGNC:25265 ZCCHC8 zinc finger CCHC-type containing 8 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 DKFZp434E2220 "Zinc fingers CCHC-type|Nuclear exosome targeting complex" "74|1316" 2004-02-17 2016-02-12 2023-01-20 55596 ENSG00000033030 OTTHUMG00000168878 uc284ngs.1 BC017704 NM_017612 "CCDS86340|CCDS91763" Q6NZY4 "16263084|21855801" MGI:1917900 RGD:1309774 616381 HGNC:25265 "ENST00000633063.3|NM_017612.5" HGNC:25265 HGNC:25424 ZCCHC9 zinc finger CCHC-type containing 9 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "DKFZp761J139|PPP1R41" protein phosphatase 1, regulatory subunit 41 "Zinc fingers CCHC-type|Protein phosphatase 1 regulatory subunits" "74|694" 2004-02-17 2016-02-12 2023-01-20 84240 ENSG00000131732 OTTHUMG00000119014 uc063ezn.1 BC014841 NM_032280 CCDS4054 Q8N567 18721783 MGI:1916335 RGD:1307450 620382 HGNC:25424 "ENST00000407610.8|NM_001131035.2" -HGNC:25954 ZCCHC10 zinc finger CCHC-type containing 10 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ20094 Zinc fingers CCHC-type 74 2004-02-17 2016-02-12 2023-01-20 54819 ENSG00000155329 OTTHUMG00000129013 uc003kyg.4 BC005211 NM_017665 "CCDS75302|CCDS4165|CCDS75301|CCDS75300|CCDS78059|CCDS78060" Q8TBK6 12477932 MGI:1196228 RGD:1308149 HGNC:25954 "ENST00000509437.6|NM_001300816.3" +HGNC:25954 ZCCHC10 zinc finger CCHC-type containing 10 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ20094 Zinc fingers CCHC-type 74 2004-02-17 2016-02-12 2023-01-20 54819 ENSG00000155329 OTTHUMG00000129013 uc003kyg.4 BC005211 NM_017665 "CCDS75301|CCDS75300|CCDS78059|CCDS78060|CCDS4165|CCDS75302" Q8TBK6 12477932 MGI:1196228 RGD:1308149 HGNC:25954 "ENST00000509437.6|NM_001300816.3" HGNC:56594 ZCCHC10P1 ZCCHC10 pseudogene 1 pseudogene pseudogene Approved 3q26.33 03q26.33 2022-11-03 2022-11-03 101929598 ENSG00000213155 PGOHUM00000299293 HGNC:56595 ZCCHC10P2 ZCCHC10 pseudogene 2 pseudogene pseudogene Approved 5p13.3 05p13.3 2022-11-03 2022-11-03 100421071 ENSG00000249744 NG_024581 PGOHUM00000300540 HGNC:27273 ZCCHC12 zinc finger CCHC-type containing 12 protein-coding gene gene with protein product Approved Xq24 Xq24 "FLJ16123|SIZN|SIZN1|PNMA7A" paraneoplastic Ma antigen family member 7A "Zinc fingers CCHC-type|Paraneoplastic Ma antigens" "74|671" 2004-07-14 2016-02-12 2023-01-20 170261 ENSG00000174460 OTTHUMG00000022261 uc004equ.4 AK122676 NM_173798 CCDS14574 Q6PEW1 "21739307|19578717" MGI:1919943 RGD:1359439 300701 471348 HGNC:27273 "ENST00000310164.3|NM_173798.4" HGNC:31749 ZCCHC13 zinc finger CCHC-type containing 13 protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 "4930513O09RIK|Cnbp2|ZNF9L" Zinc fingers CCHC-type 74 2004-08-19 2016-02-12 2023-01-20 389874 ENSG00000187969 OTTHUMG00000021851 uc004ebs.5 BC021176 NM_203303 CCDS14425 Q8WW36 MGI:1922314 RGD:1589760 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZCCHC13 HGNC:31749 "ENST00000339534.4|NM_203303.3" HGNC:24134 ZCCHC14 zinc finger CCHC-type containing 14 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "BDG29|MGC14139" "Zinc fingers CCHC-type|Sterile alpha motif domain containing" "74|760" 2004-07-14 2016-02-12 2023-01-20 23174 ENSG00000140948 OTTHUMG00000137655 uc002fjz.2 AB011151 NM_015144 CCDS10961 Q8WYQ9 9628581 MGI:2159407 RGD:1309494 HGNC:24134 "ENST00000671377.2|NM_015144.3" HGNC:52996 ZCCHC14-DT ZCCHC14 divergent transcript non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 Divergent transcripts 1990 2020-12-10 2020-12-10 101928737 ENSG00000288568 NR_110943 -HGNC:30246 ZCCHC17 zinc finger CCHC-type containing 17 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "PS1D|HSPC251|pNO40" Zinc fingers CCHC-type 74 2005-12-01 2016-02-12 2023-01-20 51538 ENSG00000121766 OTTHUMG00000003791 uc001bsp.3 AF151085 NM_016505 "CCDS60062|CCDS72744|CCDS72743|CCDS72742|CCDS72741|CCDS60061|CCDS341" Q9NP64 "12202495|12893261" MGI:1919955 RGD:1565267 619744 HGNC:30246 "ENST00000344147.10|NM_016505.4" +HGNC:30246 ZCCHC17 zinc finger CCHC-type containing 17 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "PS1D|HSPC251|pNO40" Zinc fingers CCHC-type 74 2005-12-01 2016-02-12 2023-01-20 51538 ENSG00000121766 OTTHUMG00000003791 uc001bsp.3 AF151085 NM_016505 "CCDS60062|CCDS341|CCDS72744|CCDS60061|CCDS72742|CCDS72743|CCDS72741" Q9NP64 "12202495|12893261" MGI:1919955 RGD:1565267 619744 HGNC:30246 "ENST00000344147.10|NM_016505.4" HGNC:32459 ZCCHC18 zinc finger CCHC-type containing 18 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "SIZN2|PNMA7B" paraneoplastic Ma antigen family member 7B zinc finger, CCHC domain containing 12 pseudogene 1 "Zinc fingers CCHC-type|Paraneoplastic Ma antigens" "74|671" 2008-03-06 2016-02-12 2023-01-20 644353 ENSG00000166707 OTTHUMG00000022123 uc011msh.4 AF086548 NM_001143978 CCDS65304 P0CG32 MGI:1914245 HGNC:32459 "ENST00000650639.1|NM_001143978.3" HGNC:26911 ZCCHC24 zinc finger CCHC-type containing 24 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "FLJ90798|Z3CXXC8" zinc finger, 3CxxC-type 8 C10orf56 chromosome 10 open reading frame 56 "Zinc fingers CCHC-type|Zinc fingers 3CxxC-type" "74|137" 2004-05-27 2008-06-23 2016-02-12 2023-01-20 219654 ENSG00000165424 OTTHUMG00000018561 uc001kak.4 AK075279 NM_153367 CCDS7359 Q8N2G6 12477932 MGI:1919168 RGD:1306164 HGNC:26911 "ENST00000372336.4|NM_153367.4" HGNC:29620 ZCRB1 zinc finger CCHC-type and RNA binding motif containing 1 protein-coding gene gene with protein product Approved 12q12 12q12 "MADP-1|MADP1|RBM36|ZCCHC19|SNRNP31" U11/U12 snRNP 31K "Zinc fingers CCHC-type|RNA binding motif containing|U11/U12 di-snRNP|MicroRNA protein coding host genes" "74|725|1521|1691" 2006-01-25 2016-02-12 2023-01-20 85437 ENSG00000139168 OTTHUMG00000169382 uc001rmz.4 BC022543 NM_033114 CCDS8740 Q8TBF4 "15146077|16959469" MGI:1914447 RGD:1309851 610750 HGNC:29620 "ENST00000266529.8|NM_033114.4" HGNC:54987 ZCRB1P1 ZCRB1 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-15 2020-05-15 100131556 ENSG00000224208 NG_022609 -HGNC:23486 ZCWPW1 zinc finger CW-type and PWWP domain containing 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FLJ10057|DKFZp434N0510|ZCW1" zinc finger, CW-type with PWWP domain 1 "Zinc fingers CW-type|PWWP domain containing" "96|1147" 2003-11-24 2016-02-12 2023-01-20 55063 ENSG00000078487 OTTHUMG00000159537 uc003uut.5 AK000919 NM_017984 "CCDS94155|CCDS43623|CCDS59067" Q9H0M4 "14607086|20826339" MGI:2685899 RGD:1305405 618900 HGNC:23486 "ENST00000684423.1|NM_001386010.1" +HGNC:23486 ZCWPW1 zinc finger CW-type and PWWP domain containing 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FLJ10057|DKFZp434N0510|ZCW1" zinc finger, CW-type with PWWP domain 1 "Zinc fingers CW-type|PWWP domain containing" "96|1147" 2003-11-24 2016-02-12 2023-01-20 55063 ENSG00000078487 OTTHUMG00000159537 uc003uut.5 AK000919 NM_017984 "CCDS43623|CCDS59067|CCDS94155" Q9H0M4 "14607086|20826339" MGI:2685899 RGD:1305405 618900 HGNC:23486 "ENST00000684423.1|NM_001386010.1" HGNC:23574 ZCWPW2 zinc finger CW-type and PWWP domain containing 2 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 ZCW2 zinc finger, CW type with PWWP domain 2 "Zinc fingers CW-type|PWWP domain containing" "96|1147" 2004-11-03 2016-02-12 2023-01-20 152098 ENSG00000206559 OTTHUMG00000155705 uc003ceh.4 BC065764 NM_001040432 CCDS33723 Q504Y3 14607086 MGI:1921888 RGD:1596709 HGNC:23574 "ENST00000383768.7|NM_001040432.4" HGNC:29313 ZDBF2 zinc finger DBF-type containing 2 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "FLJ45338|KIAA1571" Zinc fingers DBF-type 75 2007-03-27 2016-02-12 2023-03-15 57683 ENSG00000204186 OTTHUMG00000154648 uc002vbp.4 AB046791 NM_020923 CCDS46501 Q9HCK1 10997877 MGI:1921134 RGD:1560005 LRG_1065|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1065.xml 617059 HGNC:29313 "ENST00000374423.9|NM_020923.3" HGNC:29313 -HGNC:17916 ZDHHC1 zinc finger DHHC-type containing 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "HSU90653|ZNF377" C16orf1 chromosome 16 open reading frame 1 Zinc fingers DHHC-type 76 2002-04-04 2016-02-12 2023-01-20 29800 ENSG00000159714 OTTHUMG00000137522 uc010vjm.3 U90653 NM_013304 "CCDS92175|CCDS10836" Q8WTX9 "10395086|23687301" MGI:1918046 RGD:1589775 HGNC:17916 "ENST00000565726.3|NM_001323627.2" +HGNC:17916 ZDHHC1 zinc finger DHHC-type containing 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "HSU90653|ZNF377" C16orf1 chromosome 16 open reading frame 1 Zinc fingers DHHC-type 76 2002-04-04 2016-02-12 2023-01-20 29800 ENSG00000159714 OTTHUMG00000137522 uc010vjm.3 U90653 NM_013304 "CCDS10836|CCDS92175" Q8WTX9 "10395086|23687301" MGI:1918046 RGD:1589775 HGNC:17916 "ENST00000565726.3|NM_001323627.2" HGNC:56630 ZDHHC1P1 ZDHHC1 pseudogene 1 pseudogene pseudogene Approved 3q29 03q29 2022-11-09 2022-11-09 127566426 ENSG00000226345 NG_148570 PGOHUM00000299711 HGNC:18469 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 protein-coding gene gene with protein product Approved 8p22 08p22 "ZNF372|DHHC2" zinc finger DHHC-type containing 2 Zinc fingers DHHC-type 76 2002-04-04 2019-08-28 2023-01-20 51201 ENSG00000104219 OTTHUMG00000163860 uc003wxe.4 AB023584 NM_016353 CCDS47810 Q9UIJ5 "20519516|10918388" MGI:1923452 RGD:628681 618621 HGNC:18469 "ENST00000262096.13|NM_016353.5" -HGNC:18470 ZDHHC3 zinc finger DHHC-type palmitoyltransferase 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "ZNF373|GODZ|DHHC3" golgi-specific DHHC Zinc Finger Protein zinc finger DHHC-type containing 3 Zinc fingers DHHC-type 76 2002-04-04 2019-10-16 2023-01-20 51304 ENSG00000163812 OTTHUMG00000133093 uc003cog.4 AF247703 NM_016598 "CCDS2724|CCDS46811|CCDS46810|CCDS87071|CCDS93256" Q9NYG2 "19001095|19955568" MGI:1926134 RGD:1309041 617150 HGNC:18470 "ENST00000424952.7|NM_001135179.2" +HGNC:18470 ZDHHC3 zinc finger DHHC-type palmitoyltransferase 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "ZNF373|GODZ|DHHC3" golgi-specific DHHC Zinc Finger Protein zinc finger DHHC-type containing 3 Zinc fingers DHHC-type 76 2002-04-04 2019-10-16 2023-01-20 51304 ENSG00000163812 OTTHUMG00000133093 uc003cog.4 AF247703 NM_016598 "CCDS46811|CCDS93256|CCDS87071|CCDS2724|CCDS46810" Q9NYG2 "19001095|19955568" MGI:1926134 RGD:1309041 617150 HGNC:18470 "ENST00000424952.7|NM_001135179.2" HGNC:18471 ZDHHC4 zinc finger DHHC-type palmitoyltransferase 4 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "FLJ10479|ZNF374" zinc finger DHHC-type containing 4 Zinc fingers DHHC-type 76 2002-04-04 2019-10-17 2023-01-20 55146 ENSG00000136247 OTTHUMG00000023579 uc064bil.1 AF201931 NM_018106 CCDS5352 Q9NPG8 "30605677|26535572" MGI:1920131 RGD:1308389 HGNC:18471 "ENST00000335965.11|NM_001134389.2" HGNC:39443 ZDHHC4P1 zinc finger DHHC-type containing 4 pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-01-11 2016-02-15 2016-02-15 100420920 ENSG00000238025 OTTHUMG00000016812 NG_024919 PGOHUM00000248576 HGNC:39443 HGNC:18472 ZDHHC5 zinc finger DHHC-type palmitoyltransferase 5 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "KIAA1748|ZNF375|DHHC5" Zinc finger protein 375 zinc finger DHHC-type containing 5 Zinc fingers DHHC-type 76 2002-04-04 2019-10-17 2023-01-20 25921 ENSG00000156599 OTTHUMG00000167198 uc001nkx.2 AB051535 NM_015457 CCDS7965 Q9C0B5 "30605677|22081607|29185452|11214970|21820437" MGI:1923573 RGD:1589737 614586 2.3.1.225 HGNC:18472 "ENST00000287169.8|NM_015457.3" HGNC:18472 -HGNC:19160 ZDHHC6 zinc finger DHHC-type palmitoyltransferase 6 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "ZNF376|FLJ21952" zinc finger DHHC-type containing 6 Zinc fingers DHHC-type 76 2002-08-28 2019-10-17 2023-01-20 64429 ENSG00000023041 OTTHUMG00000019062 uc001kzv.3 AK025605 NM_022494 "CCDS7574|CCDS76335|CCDS86144|CCDS91345" Q9H6R6 "31427815|31187393|28826475" MGI:1914230 RGD:1304657 618715 objectId:3188 HGNC:19160 "ENST00000369405.7|NM_022494.3" +HGNC:19160 ZDHHC6 zinc finger DHHC-type palmitoyltransferase 6 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "ZNF376|FLJ21952" zinc finger DHHC-type containing 6 Zinc fingers DHHC-type 76 2002-08-28 2019-10-17 2023-01-20 64429 ENSG00000023041 OTTHUMG00000019062 uc001kzv.3 AK025605 NM_022494 "CCDS76335|CCDS7574|CCDS91345|CCDS86144" Q9H6R6 "31427815|31187393|28826475" MGI:1914230 RGD:1304657 618715 objectId:3188 HGNC:19160 "ENST00000369405.7|NM_022494.3" HGNC:18459 ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "FLJ10792|ZNF370|FLJ20279|SERZ-B|SERZ1|DHHC7" Sertoli cell gene with zinc finger domain-β zinc finger DHHC-type containing 7 Zinc fingers DHHC-type 76 2002-04-04 2019-10-17 2023-01-20 55625 ENSG00000153786 OTTHUMG00000137645 uc002fiq.3 AK000286 NM_017740 "CCDS45538|CCDS10950" Q9NXF8 "30158247|28196865|27380321" MGI:2142662 RGD:620205 614604 HGNC:18459 "ENST00000313732.9|NM_017740.3" -HGNC:18474 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "ZNF378|KIAA1292|DHHC8" Zinc finger protein 378 zinc finger DHHC-type containing 8 Zinc fingers DHHC-type 76 2002-04-05 2003-02-28 2019-10-17 2023-01-20 29801 ENSG00000099904 OTTHUMG00000150499 uc002zrq.4 AB033118 NM_013373 "CCDS13776|CCDS54502" Q9ULC8 "27365300|24068808|10574462|15184899" MGI:1338012 RGD:1308875 608784 2.3.1.225 HGNC:18474 "ENST00000334554.12|NM_013373.4" +HGNC:18474 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "ZNF378|KIAA1292|DHHC8" Zinc finger protein 378 zinc finger DHHC-type containing 8 Zinc fingers DHHC-type 76 2002-04-05 2003-02-28 2019-10-17 2023-01-20 29801 ENSG00000099904 OTTHUMG00000150499 uc002zrq.4 AB033118 NM_013373 "CCDS54502|CCDS13776" Q9ULC8 "27365300|24068808|10574462|15184899" MGI:1338012 RGD:1308875 608784 2.3.1.225 HGNC:18474 "ENST00000334554.12|NM_013373.4" HGNC:26461 ZDHHC8BP ZDHHC8B, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 FLJ31568 "ZDHHC8P|ZDHHC8P1" ZDHHC8 pseudogene 1 2008-02-21 2022-08-24 2022-08-24 2023-03-15 150244 ENSG00000133519 OTTHUMG00000150650 NR_003950 PGOHUM00000246279 HGNC:26461 HGNC:18475 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "ZNF379|CGI-89|ZNF380|DHHC9" "Zinc finger protein 379|Zinc finger protein 380" "ZDHHC10|CXorf11" "zinc finger, DHHC-type containing 10|chromosome X open reading frame 11|zinc finger DHHC-type containing 9" Zinc fingers DHHC-type 76 2002-04-05 2019-10-17 2023-01-20 51114 ENSG00000188706 OTTHUMG00000022375 uc004euw.4 AF151847 NM_016032 CCDS35395 Q9Y397 "18827284|16000296|10810093|17436253|27481942" MGI:2444393 RGD:1561389 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZDHHC9 300646 159313 2.3.1.225 HGNC:18475 "ENST00000357166.11|NM_016032.4" HGNC:18475 HGNC:19158 ZDHHC11 zinc finger DHHC-type containing 11 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "ZNF399|FLJ13153" Zinc fingers DHHC-type 76 2002-08-28 2016-02-15 2023-01-20 79844 ENSG00000188818 OTTHUMG00000090319 uc011cma.2 AK023215 NM_024786 CCDS3857 Q9H8X9 23687301 MGI:1918414 RGD:1564281 HGNC:19158 "ENST00000283441.13|NM_024786.3" HGNC:32962 ZDHHC11B zinc finger DHHC-type containing 11B protein-coding gene gene with protein product Approved 5p15.33 05p15.33 Zinc fingers DHHC-type 76 2006-07-14 2016-02-15 2023-01-20 653082 ENSG00000206077 OTTHUMG00000162148 uc063bxb.1 NM_001351303 CCDS87287 P0C7U3 MGI:1918414 HGNC:32962 "ENST00000508859.8|NM_001351303.2" HGNC:19159 ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "ZNF400|FLJ14524" zinc finger DHHC-type containing 12 Zinc fingers DHHC-type 76 2002-08-28 2019-10-17 2023-01-20 84885 ENSG00000160446 OTTHUMG00000020756 uc004bvy.4 AK027430 NM_032799 CCDS6909 Q96GR4 25025157 MGI:1913470 RGD:1306593 HGNC:19159 "ENST00000372663.9|NM_032799.5" HGNC:55873 ZDHHC12-DT ZDHHC12 divergent transcript non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Divergent transcripts 1990 2021-09-08 2021-09-08 100506100 ENSG00000223478 NR_046240 -HGNC:18413 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "FLJ10852|FLJ10941|HIP14L" zinc finger DHHC-type containing 13 "Zinc fingers DHHC-type|Ankyrin repeat domain containing" "76|403" 2004-05-07 2019-10-17 2023-01-20 54503 ENSG00000177054 OTTHUMG00000166099 uc001mpi.4 AB024495 NM_019028 "CCDS44551|CCDS44550" Q8IUH4 "19299482|20548961|18794299" MGI:1919227 RGD:1309736 612815 HGNC:18413 "ENST00000446113.7|NM_019028.3" -HGNC:20341 ZDHHC14 zinc finger DHHC-type palmitoyltransferase 14 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ20984|NEW1CP" zinc finger DHHC-type containing 14 "Zinc fingers DHHC-type|MicroRNA protein coding host genes" "76|1691" 2003-01-27 2019-10-17 2023-01-20 79683 ENSG00000175048 OTTHUMG00000015896 uc003qqt.4 AF542388 NM_153746 "CCDS5252|CCDS47510" Q8IZN3 27481942 MGI:2653229 RGD:1565877 619295 HGNC:20341 "ENST00000359775.10|NM_024630.3" -HGNC:20342 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "FLJ31812|MRX91|DHHC15" Mental retardation, X-linked 91 zinc finger DHHC-type containing 15 Zinc fingers DHHC-type 76 2003-01-28 2019-10-17 2023-01-20 158866 ENSG00000102383 OTTHUMG00000021866 uc004ecg.4 AK056374 NM_144969 "CCDS14430|CCDS55454" Q96MV8 "18596047|19956733|28167757" MGI:1915336 RGD:1562075 300576 471350 2.3.1.225 HGNC:20342 "ENST00000373367.8|NM_144969.3" HGNC:20342 -HGNC:20714 ZDHHC16 zinc finger DHHC-type palmitoyltransferase 16 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 APH2 zinc finger DHHC-type containing 16 Zinc fingers DHHC-type 76 2003-03-21 2019-10-17 2023-01-20 84287 ENSG00000171307 OTTHUMG00000018847 uc001knj.5 AF258563 NM_032327 "CCDS7461|CCDS7460|CCDS7463|CCDS73176|CCDS7462" Q969W1 "26644582|12021275|28826475" MGI:1921418 RGD:1591893 616750 HGNC:20714 "ENST00000393760.6|NM_198046.3" +HGNC:18413 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "FLJ10852|FLJ10941|HIP14L" zinc finger DHHC-type containing 13 "Zinc fingers DHHC-type|Ankyrin repeat domain containing" "76|403" 2004-05-07 2019-10-17 2023-01-20 54503 ENSG00000177054 OTTHUMG00000166099 uc001mpi.4 AB024495 NM_019028 "CCDS44550|CCDS44551" Q8IUH4 "19299482|20548961|18794299" MGI:1919227 RGD:1309736 612815 HGNC:18413 "ENST00000446113.7|NM_019028.3" +HGNC:20341 ZDHHC14 zinc finger DHHC-type palmitoyltransferase 14 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ20984|NEW1CP" zinc finger DHHC-type containing 14 "Zinc fingers DHHC-type|MicroRNA protein coding host genes" "76|1691" 2003-01-27 2019-10-17 2023-01-20 79683 ENSG00000175048 OTTHUMG00000015896 uc003qqt.4 AF542388 NM_153746 "CCDS47510|CCDS5252" Q8IZN3 27481942 MGI:2653229 RGD:1565877 619295 HGNC:20341 "ENST00000359775.10|NM_024630.3" +HGNC:20342 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "FLJ31812|MRX91|DHHC15" Mental retardation, X-linked 91 zinc finger DHHC-type containing 15 Zinc fingers DHHC-type 76 2003-01-28 2019-10-17 2023-01-20 158866 ENSG00000102383 OTTHUMG00000021866 uc004ecg.4 AK056374 NM_144969 "CCDS55454|CCDS14430" Q96MV8 "18596047|19956733|28167757" MGI:1915336 RGD:1562075 300576 471350 2.3.1.225 HGNC:20342 "ENST00000373367.8|NM_144969.3" HGNC:20342 +HGNC:20714 ZDHHC16 zinc finger DHHC-type palmitoyltransferase 16 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 APH2 zinc finger DHHC-type containing 16 Zinc fingers DHHC-type 76 2003-03-21 2019-10-17 2023-01-20 84287 ENSG00000171307 OTTHUMG00000018847 uc001knj.5 AF258563 NM_032327 "CCDS7460|CCDS7462|CCDS73176|CCDS7463|CCDS7461" Q969W1 "26644582|12021275|28826475" MGI:1921418 RGD:1591893 616750 HGNC:20714 "ENST00000393760.6|NM_198046.3" HGNC:18412 ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "HIP14|HYPH|KIAA0946" zinc finger DHHC-type containing 17 "Zinc fingers DHHC-type|Ankyrin repeat domain containing" "76|403" 2004-07-14 2019-10-17 2023-01-20 23390 ENSG00000186908 OTTHUMG00000169917 uc001syk.2 AB023163 NM_015336 CCDS44946 Q8IUH5 "15603740|15489887|19139280|28757145|9700202|18794299" MGI:2445110 RGD:1595790 607799 HGNC:18412 "ENST00000426126.7|NM_015336.4" HGNC:20712 ZDHHC18 zinc finger DHHC-type palmitoyltransferase 18 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DKFZp667O2416 zinc finger DHHC-type containing 18 Zinc fingers DHHC-type 76 2003-03-21 2019-10-17 2023-01-20 84243 ENSG00000204160 OTTHUMG00000004092 uc001bnb.4 AK056427 NM_032283 CCDS30650 Q9NUE0 "15603741|27481942" MGI:3527792 RGD:1309334 HGNC:20712 "ENST00000374142.9|NM_032283.3" HGNC:20713 ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 protein-coding gene gene with protein product Approved 3q29 03q29 MGC33345 zinc finger DHHC-type containing 19 Zinc fingers DHHC-type 76 2003-03-21 2019-10-17 2023-03-15 131540 ENSG00000163958 OTTHUMG00000133642 uc003fwc.4 BC022078 NM_144637 CCDS43190 Q8WVZ1 "20074548|30404808" MGI:2682948 RGD:1309014 618671 HGNC:20713 "ENST00000296326.8|NM_001039617.2" -HGNC:20749 ZDHHC20 zinc finger DHHC-type palmitoyltransferase 20 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "FLJ25952|DHHC20" zinc finger DHHC-type containing 20 Zinc fingers DHHC-type 76 2005-03-08 2019-10-17 2023-01-20 253832 ENSG00000180776 OTTHUMG00000017410 uc001uoa.4 AK090979 NM_153251 "CCDS81758|CCDS45017|CCDS73551" Q5W0Z9 "27153536|29079573" MGI:1923215 RGD:1305755 617972 2.3.1.225 HGNC:20749 "ENST00000400590.8|NM_001330059.2" +HGNC:20749 ZDHHC20 zinc finger DHHC-type palmitoyltransferase 20 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "FLJ25952|DHHC20" zinc finger DHHC-type containing 20 Zinc fingers DHHC-type 76 2005-03-08 2019-10-17 2023-01-20 253832 ENSG00000180776 OTTHUMG00000017410 uc001uoa.4 AK090979 NM_153251 "CCDS45017|CCDS73551|CCDS81758" Q5W0Z9 "27153536|29079573" MGI:1923215 RGD:1305755 617972 2.3.1.225 HGNC:20749 "ENST00000400590.8|NM_001330059.2" HGNC:39900 ZDHHC20-IT1 ZDHHC20 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 ZDHHC20 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-04-08 2015-02-25 2015-02-25 100874367 ENSG00000236953 OTTHUMG00000046192 uc058vvu.1 ZDHHC20-IT1 HGNC:33456 ZDHHC20P1 zinc finger DHHC-type containing 20 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 OTTHUMG00000086707 2007-05-01 2016-02-15 2016-10-05 100048907 ENSG00000233916 OTTHUMG00000086707 NG_029279 PGOHUM00000243125 HGNC:33456 HGNC:33457 ZDHHC20P2 zinc finger DHHC-type containing 20 pseudogene 2 pseudogene pseudogene Approved 6p21.33 06p21.33 OTTHUMG00000133740 2007-05-01 2016-02-15 2016-10-05 100048908 ENSG00000223702 OTTHUMG00000133740 NG_029280 PGOHUM00000243583 HGNC:33457 @@ -42765,16 +42767,16 @@ HGNC:39775 ZDHHC20P3 zinc finger DHHC-type containing 20 pseudogene 3 pseudogene HGNC:39776 ZDHHC20P4 zinc finger DHHC-type containing 20 pseudogene 4 pseudogene pseudogene Approved 13q21.33 13q21.33 2011-03-29 2016-02-15 2016-02-15 730239 ENSG00000232380 OTTHUMG00000017050 NG_011414 PGOHUM00000248624 HGNC:39776 HGNC:20750 ZDHHC21 zinc finger DHHC-type palmitoyltransferase 21 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 "HSPC097|DNZ1|DHHC21" zinc finger DHHC-type containing 21 Zinc fingers DHHC-type 76 2004-02-06 2019-10-17 2023-01-20 340481 ENSG00000175893 OTTHUMG00000019573 uc003zlh.3 AF161360 NM_178566 CCDS6475 Q8IVQ6 "19956733|22031296|26715683|27653213" MGI:1915518 RGD:1305750 614605 HGNC:20750 "ENST00000380916.9|NM_178566.6" HGNC:20106 ZDHHC22 zinc finger DHHC-type palmitoyltransferase 22 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 C14orf59 "chromosome 14 open reading frame 59|zinc finger DHHC-type containing 22" Zinc fingers DHHC-type 76 2003-01-13 2004-03-10 2019-10-17 2023-01-20 283576 ENSG00000177108 OTTHUMG00000171575 uc010asp.3 AK095612 NM_174976 CCDS45140 Q8N966 22399288 MGI:2685108 RGD:1308446 HGNC:20106 "ENST00000319374.4|NM_174976.2" -HGNC:28654 ZDHHC23 zinc finger DHHC-type palmitoyltransferase 23 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 MGC42530 zinc finger DHHC-type containing 23 Zinc fingers DHHC-type 76 2004-03-05 2019-10-17 2023-01-20 254887 ENSG00000184307 OTTHUMG00000159335 uc003eau.4 AK127025 NM_173570 "CCDS33827|CCDS93341|CCDS87122" Q8IYP9 22399288 MGI:2685625 RGD:1303254 617334 HGNC:28654 "ENST00000638807.2|NM_001320466.2" -HGNC:27387 ZDHHC24 zinc finger DHHC-type containing 24 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 Zinc fingers DHHC-type 76 2005-03-14 2016-02-15 2023-01-20 254359 ENSG00000174165 OTTHUMG00000167096 uc001oin.2 BC005015 NM_207340 "CCDS8143|CCDS86218" Q6UX98 MGI:1917855 RGD:1565630 HGNC:27387 "ENST00000310442.5|NM_207340.3" -HGNC:11642 ZEB1 zinc finger E-box binding homeobox 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "BZP|ZEB|AREB6|NIL-2-A|Zfhep|Zfhx1a|FECD6" "TCF8|PPCD3" "transcription factor 8 (represses interleukin 2 expression)|posterior polymorphous corneal dystrophy 3" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1991-12-17 2007-02-15 2007-02-15 2023-01-20 6935 ENSG00000148516 OTTHUMG00000017907 uc001ivs.5 AK091478 NM_030751 "CCDS7169|CCDS53507|CCDS53505|CCDS44370|CCDS53506" P37275 "1427828|1840704|15384081|16252232" MGI:1344313 RGD:3831 189909 8618 120584 HGNC:11642 "ENST00000424869.6|NM_001174096.2" HGNC:11642 -HGNC:42354 ZEB1-AS1 ZEB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 ZEB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-30 2012-08-15 2020-04-20 220930 ENSG00000237036 OTTHUMG00000017905 uc057soa.1 NR_024284 "26617942|28075045|27829995" MGI:3642044 616915 ZEB1-AS1 HGNC:42354 +HGNC:28654 ZDHHC23 zinc finger DHHC-type palmitoyltransferase 23 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 MGC42530 zinc finger DHHC-type containing 23 Zinc fingers DHHC-type 76 2004-03-05 2019-10-17 2023-01-20 254887 ENSG00000184307 OTTHUMG00000159335 uc003eau.4 AK127025 NM_173570 "CCDS33827|CCDS87122|CCDS93341" Q8IYP9 22399288 MGI:2685625 RGD:1303254 617334 HGNC:28654 "ENST00000638807.2|NM_001320466.2" +HGNC:27387 ZDHHC24 zinc finger DHHC-type containing 24 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 Zinc fingers DHHC-type 76 2005-03-14 2016-02-15 2023-01-20 254359 ENSG00000174165 OTTHUMG00000167096 uc001oin.2 BC005015 NM_207340 "CCDS86218|CCDS8143" Q6UX98 MGI:1917855 RGD:1565630 HGNC:27387 "ENST00000310442.5|NM_207340.3" +HGNC:11642 ZEB1 zinc finger E-box binding homeobox 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "BZP|ZEB|AREB6|NIL-2-A|Zfhep|Zfhx1a|FECD6" "TCF8|PPCD3" "transcription factor 8 (represses interleukin 2 expression)|posterior polymorphous corneal dystrophy 3" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1991-12-17 2007-02-15 2007-02-15 2023-01-20 6935 ENSG00000148516 OTTHUMG00000017907 uc001ivs.5 AK091478 NM_030751 "CCDS44370|CCDS53507|CCDS53505|CCDS7169|CCDS53506" P37275 "1427828|1840704|15384081|16252232" MGI:1344313 RGD:3831 189909 8618 120584 HGNC:11642 "ENST00000424869.6|NM_001174096.2" HGNC:11642 +HGNC:42354 ZEB1-AS1 ZEB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 ZEB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-30 2012-08-15 2020-04-20 220930 ENSG00000237036 OTTHUMG00000017905 uc057soa.1 NR_024284 "26617942|28075045|27829995" MGI:3642044 ZEB1-AS1 HGNC:42354 HGNC:14881 ZEB2 zinc finger E-box binding homeobox 2 protein-coding gene gene with protein product Approved 2q22.3 02q22.3 "KIAA0569|SIP-1|SIP1" SMAD interacting protein 1 ZFHX1B zinc finger homeobox 1b "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 2001-03-14 2007-02-15 2007-02-15 2023-01-20 9839 ENSG00000169554 OTTHUMG00000187624 uc002tvu.4 AB011141 NM_014795 "CCDS54403|CCDS2186" O60315 MGI:1344407 RGD:1307272 605802 8619 120593 HGNC:14881 "ENST00000627532.3|NM_014795.4" HGNC:14881 HGNC:37149 ZEB2-AS1 ZEB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q22.3 02q22.3 ZEB2NAT ZEB2 natural antisense transcript "ZEB2AS|ZEB2-AS" "ZEB2 antisense RNA (non-protein coding)|ZEB2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-08-30 2010-11-25 2012-08-15 2016-12-16 100303491 ENSG00000238057 OTTHUMG00000153879 uc061ohe.1 NR_040248 "18347095|26152796" RGD:9273023 zeb2nat ZEB2-AS1 HGNC:37149 HGNC:33346 ZEB2P1 zinc finger E-box binding homeobox 2 pseudogene 1 pseudogene pseudogene Approved 4p15.32 04p15.32 ZEB1P1 ZF class homeoboxes and pseudogenes 529 2007-02-15 2007-03-08 2007-03-08 2020-04-20 100420926 ENSG00000249506 OTTHUMG00000160179 NG_025087 8572 PGOHUM00000245474 HGNC:33346 HGNC:53967 ZEBTR ZEB1 transcriptional regulator RNA non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 LncRNA-BX111 Long non-coding RNAs with non-systematic symbols 1992 2019-01-16 2019-01-16 113391337 BX111887 29970904 HGNC:30960 ZER1 zyg-11 related cell cycle regulator protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "ZYG|Hzyg" "C9orf60|ZYG11BL" "chromosome 9 open reading frame 60|zyg-11 homolog B (C. elegans)-like|zer-1 homolog (C. elegans)" "ZYG11 cell cycle regulator family|Armadillo like helical domain containing" "6|1492" 2004-01-06 2007-01-04 2016-04-19 2023-01-20 10444 ENSG00000160445 OTTHUMG00000020759 uc004bwa.3 X99802 NM_006336 CCDS6910 Q7Z7L7 11719588 MGI:2442511 RGD:1310284 617764 HGNC:30960 "ENST00000291900.7|NM_006336.4" -HGNC:25858 ZFAND1 zinc finger AN1-type containing 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 FLJ14007 zinc finger, AN1-type domain 1 Zinc fingers AN1-type 63 2005-03-18 2016-02-12 2023-01-20 79752 ENSG00000104231 OTTHUMG00000164684 uc003ycj.3 NM_024699 "CCDS55251|CCDS55250|CCDS6232" Q8TCF1 24121501 MGI:1913611 RGD:1309519 HGNC:25858 "ENST00000220669.10|NM_024699.3" +HGNC:25858 ZFAND1 zinc finger AN1-type containing 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 FLJ14007 zinc finger, AN1-type domain 1 Zinc fingers AN1-type 63 2005-03-18 2016-02-12 2023-01-20 79752 ENSG00000104231 OTTHUMG00000164684 uc003ycj.3 NM_024699 "CCDS55250|CCDS6232|CCDS55251" Q8TCF1 24121501 MGI:1913611 RGD:1309519 HGNC:25858 "ENST00000220669.10|NM_024699.3" HGNC:28073 ZFAND2A zinc finger AN1-type containing 2A protein-coding gene gene with protein product Approved 7p22.3 07p22.3 AIRAP arsenite inducible RNA associated protein zinc finger, AN1-type domain 2A Zinc fingers AN1-type 63 2005-08-22 2016-02-12 2023-01-20 90637 ENSG00000178381 OTTHUMG00000119019 uc003skc.4 BC029558 NM_182491 "CCDS94044|CCDS5323" Q8N6M9 20185824 MGI:2140729 RGD:1310991 610699 HGNC:28073 "ENST00000316495.8|NM_182491.4" HGNC:41187 ZFAND2A-DT ZFAND2A divergent transcript non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Divergent transcripts 1990 2020-04-16 2020-04-16 101927021 ENSG00000229043 OTTHUMG00000151480 NR_110065 HGNC:56472 ZFAND2AP1 ZFAND2A pseudogene 1 pseudogene pseudogene Approved 3q13.13 03q13.13 2022-10-20 2022-10-20 127379714 ENSG00000243945 NG_115711 PGOHUM00000299127 @@ -42782,12 +42784,12 @@ HGNC:56473 ZFAND2AP2 ZFAND2A pseudogene 2 pseudogene pseudogene Approved 14q12 1 HGNC:25206 ZFAND2B zinc finger AN1-type containing 2B protein-coding gene gene with protein product Approved 2q35 02q35 AIRAPL arsenite inducible RNA associated protein-like "zinc finger, AN1-type 2B|zinc finger, AN1-type domain 2B" Zinc fingers AN1-type 63 2005-08-22 2016-02-12 2023-01-20 130617 ENSG00000158552 OTTHUMG00000133135 uc031rri.1 AK074571 NM_138802 "CCDS74656|CCDS2435" Q8WV99 18467495 MGI:1916068 RGD:1306260 613474 HGNC:25206 "ENST00000289528.10|NM_138802.3" HGNC:18019 ZFAND3 zinc finger AN1-type containing 3 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 FLJ13222 TEX27 "testis expressed sequence 27|zinc finger, AN1-type domain 3" Zinc fingers AN1-type 63 2002-01-18 2005-12-15 2016-02-12 2023-01-20 60685 ENSG00000156639 OTTHUMG00000014629 uc003onx.4 AK023284 NM_021943 "CCDS4836|CCDS93913" Q9H8U3 MGI:1096572 RGD:1307113 607455 HGNC:18019 "ENST00000287218.9|NM_021943.3" HGNC:55841 ZFAND3-DT ZFAND3 divergent transcript non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 Divergent transcripts 1990 2021-08-02 2021-08-02 107986593 ENSG00000225945 XR_001744107 -HGNC:23504 ZFAND4 zinc finger AN1-type containing 4 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 FLJ40185 ANUBL1 "AN1, ubiquitin-like, homolog (Xenopus laevis)|zinc finger, AN1-type domain 4" Zinc fingers AN1-type 63 2003-11-21 2011-11-10 2016-02-12 2023-01-20 93550 ENSG00000172671 OTTHUMG00000018085 uc001jcm.6 AF311324 NM_174890 "CCDS7214|CCDS60520" Q86XD8 MGI:1914742 RGD:628707 HGNC:23504 "ENST00000344646.10|NM_174890.4" +HGNC:23504 ZFAND4 zinc finger AN1-type containing 4 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 FLJ40185 ANUBL1 "AN1, ubiquitin-like, homolog (Xenopus laevis)|zinc finger, AN1-type domain 4" Zinc fingers AN1-type 63 2003-11-21 2011-11-10 2016-02-12 2023-01-20 93550 ENSG00000172671 OTTHUMG00000018085 uc001jcm.6 AF311324 NM_174890 "CCDS60520|CCDS7214" Q86XD8 MGI:1914742 RGD:628707 HGNC:23504 "ENST00000344646.10|NM_174890.4" HGNC:13008 ZFAND5 zinc finger AN1-type containing 5 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 ZFAND5A "ZNF216|ZA20D2" "zinc finger protein 216|zinc finger, A20 domain containing 2|zinc finger, AN1-type domain 5" Zinc fingers AN1-type 63 1998-04-20 2006-07-07 2016-02-12 2023-01-20 7763 ENSG00000107372 OTTHUMG00000020008 uc031ted.1 AF062072 NM_001102420 CCDS6642 O76080 9758550 MGI:1278334 RGD:1310776 604761 HGNC:13008 "ENST00000376962.10|NM_001102420.3" -HGNC:30164 ZFAND6 zinc finger AN1-type containing 6 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "ZFAND5B|AWP1" protein associated with PRK1 ZA20D3 "zinc finger, A20 domain containing 3|zinc finger, AN1-type domain 6" Zinc fingers AN1-type 63 2004-09-10 2006-07-07 2016-02-12 2023-01-20 54469 ENSG00000086666 OTTHUMG00000144169 uc002bfe.2 BC005283 NM_019006 "CCDS58395|CCDS10313" Q6FIF0 11054541 MGI:1929510 RGD:1359317 610183 HGNC:30164 "ENST00000261749.11|NM_019006.4" +HGNC:30164 ZFAND6 zinc finger AN1-type containing 6 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "ZFAND5B|AWP1" protein associated with PRK1 ZA20D3 "zinc finger, A20 domain containing 3|zinc finger, AN1-type domain 6" Zinc fingers AN1-type 63 2004-09-10 2006-07-07 2016-02-12 2023-01-20 54469 ENSG00000086666 OTTHUMG00000144169 uc002bfe.2 BC005283 NM_019006 "CCDS10313|CCDS58395" Q6FIF0 11054541 MGI:1929510 RGD:1359317 610183 HGNC:30164 "ENST00000261749.11|NM_019006.4" HGNC:42978 ZFAND6P1 zinc finger AN1-type containing 6 pseudogene 1 pseudogene pseudogene Approved 9p13.3 09p13.3 zinc finger, AN1-type domain 6 pseudogene 1 2011-09-12 2016-02-12 2016-02-12 100631382 ENSG00000244213 OTTHUMG00000019859 NG_029329 PGOHUM00000261990 HGNC:42978 HGNC:33101 ZFAS1 ZNFX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 "HSUP1|HSUP2" "C20orf199|NCRNA00275|ZNFX1-AS1" "chromosome 20 open reading frame 199|non-protein coding RNA 275|ZNFX1 antisense RNA 1 (non-protein coding)" "Small nucleolar RNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1839|1992" 2006-08-07 2013-02-06 2012-08-15 2014-11-19 441951 ENSG00000177410 OTTHUMG00000032698 uc061xqc.1 "AY513722|AY513723" NR_003604 21460236 MGI:1916199 zfas1 ZFAS1 HGNC:33101 -HGNC:19899 ZFAT zinc finger and AT-hook domain containing protein-coding gene gene with protein product Approved 8q24.22 08q24.22 KIAA1485 "ZNF406|ZFAT1" "zinc finger protein 406|zinc finger and AT hook domain containing" Zinc fingers C2H2-type 28 2002-11-29 2008-01-25 2015-11-23 2023-01-20 57623 ENSG00000066827 OTTHUMG00000164321 uc003yup.4 BC025423 NM_001029939 "CCDS43768|CCDS55276|CCDS55275|CCDS47924" Q9P243 "10819331|18329245" MGI:2681865 RGD:1310886 610931 HGNC:19899 "ENST00000377838.8|NM_020863.4" +HGNC:19899 ZFAT zinc finger and AT-hook domain containing protein-coding gene gene with protein product Approved 8q24.22 08q24.22 KIAA1485 "ZNF406|ZFAT1" "zinc finger protein 406|zinc finger and AT hook domain containing" Zinc fingers C2H2-type 28 2002-11-29 2008-01-25 2015-11-23 2023-01-20 57623 ENSG00000066827 OTTHUMG00000164321 uc003yup.4 BC025423 NM_001029939 "CCDS55276|CCDS43768|CCDS47924|CCDS55275" Q9P243 "10819331|18329245" MGI:2681865 RGD:1310886 610931 HGNC:19899 "ENST00000377838.8|NM_020863.4" HGNC:33992 ZFAT-AS1 ZFAT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.22 08q24.22 "SAS-ZFAT|NCRNA00070" non-protein coding RNA 70 "ZFATAS|ZFAT-AS" "ZFAT antisense RNA (non-protein coding)|ZFAT antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-02-12 2010-11-25 2012-08-15 2012-10-12 594840 ENSG00000248492 OTTHUMG00000164323 uc003yus.1 AB167742 NR_002438 "15294872|22894909" ZFAT-AS1 HGNC:33992 HGNC:28328 ZFC3H1 zinc finger C3H1-type containing protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "MGC23401|KIAA0546|CSRC2" "PSRC2|CCDC131" "proline/serine-rich coiled-coil 2|coiled-coil domain containing 131" Zinc fingers 26 2005-12-01 2008-10-01 2016-02-12 2023-01-20 196441 ENSG00000133858 OTTHUMG00000169545 uc001swo.4 AB011118 NM_144982 CCDS41813 O60293 9628581 MGI:2446143 RGD:1306287 HGNC:28328 "ENST00000378743.9|NM_144982.5" HGNC:20152 ZFHX2 zinc finger homeobox 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA1762|KIAA1056|ZFH-5" ZNF409 zinc finger protein 409 "Zinc fingers C2H2-type|Zinc fingers matrin-type|ZF class homeoboxes and pseudogenes" "28|84|529" 2002-12-18 2023-01-20 85446 ENSG00000136367 OTTHUMG00000156894 uc010tno.2 AB051549 NM_014894 CCDS55907 Q9C0A1 "11214970|10470851" MGI:2686934 RGD:735143 617828 8620 HGNC:20152 "ENST00000419474.5|NM_033400.3" HGNC:20152 @@ -42796,7 +42798,7 @@ HGNC:777 ZFHX3 zinc finger homeobox 3 protein-coding gene gene with protein prod HGNC:56033 ZFHX3-AS1 ZFHX3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q22.2 16q22.2 Antisense RNAs 1987 2021-12-06 2021-12-06 101927978 ENSG00000259768 NR_171702 HGNC:30939 ZFHX4 zinc finger homeobox 4 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "ZFH4|FLJ20980" zinc finger homeodomain 4 "Zinc fingers C2H2-type|Zinc fingers matrin-type|ZF class homeoboxes and pseudogenes" "28|84|529" 2004-07-22 2007-07-16 2023-01-20 79776 ENSG00000091656 OTTHUMG00000164557 uc003yau.3 NM_024721 "CCDS47878|CCDS94320" Q86UP3 "10873665|11935336" MGI:2137668 RGD:1563022 606940 8622 471352 HGNC:30939 "ENST00000651372.2|NM_024721.5" HGNC:30939 HGNC:44165 ZFHX4-AS1 ZFHX4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 ZFHX4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2016-10-05 100192378 ENSG00000253661 OTTHUMG00000164554 uc003yas.5 BC037827 NR_024360 ZFHX4-AS1 HGNC:44165 -HGNC:23328 ZFP1 ZFP1 zinc finger protein protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "FLJ34243|ZNF475" "zinc finger protein 1 homolog (mouse)|zinc finger protein 1" Zinc fingers C2H2-type 28 2003-11-07 2012-11-27 2023-01-20 162239 ENSG00000184517 OTTHUMG00000137602 uc002fdq.4 AK094761 NM_153688 "CCDS82012|CCDS82013|CCDS10914" Q6P2D0 2574853 MGI:99154 RGD:1565049 617230 HGNC:23328 "ENST00000570010.6|NM_153688.4" +HGNC:23328 ZFP1 ZFP1 zinc finger protein protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "FLJ34243|ZNF475" "zinc finger protein 1 homolog (mouse)|zinc finger protein 1" Zinc fingers C2H2-type 28 2003-11-07 2012-11-27 2023-01-20 162239 ENSG00000184517 OTTHUMG00000137602 uc002fdq.4 AK094761 NM_153688 "CCDS10914|CCDS82012|CCDS82013" Q6P2D0 2574853 MGI:99154 RGD:1565049 617230 HGNC:23328 "ENST00000570010.6|NM_153688.4" HGNC:26138 ZFP2 ZFP2 zinc finger protein protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ21628|ZNF751" zinc finger protein 2 homolog (mouse) Zinc fingers C2H2-type 28 2005-05-09 2012-11-27 2023-01-20 80108 ENSG00000198939 OTTHUMG00000130885 uc003mjn.2 AK025281 NM_030613 CCDS4440 Q6ZN57 MGI:99167 RGD:1562610 HGNC:26138 "ENST00000361362.7|NM_030613.4" HGNC:12861 ZFP3 ZFP3 zinc finger protein protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FLJ30726|ZNF752" "zinc finger protein homologous to Zfp-3 in mouse|zinc finger protein 3 homolog (mouse)" Zinc fingers C2H2-type 28 2001-06-22 2012-11-27 2023-01-20 124961 ENSG00000180787 OTTHUMG00000177799 uc002gaq.4 BX647638 NM_153018 CCDS11067 Q96NJ6 MGI:99177 RGD:1565881 194480 HGNC:12861 "ENST00000318833.4|NM_153018.3" HGNC:55340 ZFP3-DT ZFP3 divergent transcript non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Divergent transcripts 1990 2020-10-21 2020-10-21 119139902 ENSG00000262693 @@ -42807,17 +42809,17 @@ HGNC:29555 ZFP30 ZFP30 zinc finger protein protein-coding gene gene with protein HGNC:12862 ZFP36 ZFP36 ring finger protein protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "RNF162A|TIS11|G0S24|TTP|NUP475" tristetraprolin zinc finger protein 36, C3H type, homolog (mouse) Zinc fingers CCCH-type 73 1991-04-30 2012-11-27 2023-01-20 7538 ENSG00000128016 OTTHUMG00000182970 uc002olh.3 M63625 NM_003407 CCDS12534 P26651 1699942 MGI:99180 RGD:620722 190700 HGNC:12862 "ENST00000597629.3|NM_003407.5" HGNC:1107 ZFP36L1 ZFP36 ring finger protein like 1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "RNF162B|Berg36|ERF1|TIS11B|cMG1" BRF1 "zinc finger protein, C3H type, 36-like 1|zinc finger protein 36, C3H type-like 1" Zinc fingers CCCH-type 73 1995-05-09 2001-11-23 2016-06-30 2023-01-20 677 ENSG00000185650 OTTHUMG00000171385 uc001xki.3 X79066 NM_001244698 CCDS9791 Q07352 8024689 MGI:107946 RGD:62009 601064 471354 HGNC:1107 "ENST00000439696.3|NM_004926.4" HGNC:1108 ZFP36L2 ZFP36 ring finger protein like 2 protein-coding gene gene with protein product Approved 2p21 02p21 "ERF2|RNF162C|TIS11D" BRF2 "butyrate response factor 2 (EGF-response factor 2)|zinc finger protein 36, C3H type-like 2" Zinc fingers CCCH-type 73 1995-05-09 2001-11-23 2016-06-30 2023-01-20 678 ENSG00000152518 OTTHUMG00000128642 uc002rsv.5 X78992 NM_006887 CCDS1811 P47974 "7835719|8545129|14981510|17172869" MGI:107945 RGD:1308913 612053 HGNC:1108 "ENST00000282388.4|NM_006887.5" -HGNC:12863 ZFP37 ZFP37 zinc finger protein protein-coding gene gene with protein product Approved 9q32 09q32 ZNF906 "zinc finger protein homologous to Zfp37 in mouse|zinc finger protein 37 homolog (mouse)" Zinc fingers C2H2-type 28 1997-03-19 2012-11-27 2023-01-20 7539 ENSG00000136866 OTTHUMG00000021019 uc011lwz.3 AF022158 NM_003408 "CCDS65109|CCDS6787|CCDS65110" Q9Y6Q3 MGI:99181 RGD:620723 602951 HGNC:12863 "ENST00000374227.8|NM_003408.3" +HGNC:12863 ZFP37 ZFP37 zinc finger protein protein-coding gene gene with protein product Approved 9q32 09q32 ZNF906 "zinc finger protein homologous to Zfp37 in mouse|zinc finger protein 37 homolog (mouse)" Zinc fingers C2H2-type 28 1997-03-19 2012-11-27 2023-01-20 7539 ENSG00000136866 OTTHUMG00000021019 uc011lwz.3 AF022158 NM_003408 "CCDS65109|CCDS65110|CCDS6787" Q9Y6Q3 MGI:99181 RGD:620723 602951 HGNC:12863 "ENST00000374227.8|NM_003408.3" HGNC:26786 ZFP41 ZFP41 zinc finger protein protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FLJ38705|FLJ00028|ZNF753" zinc finger protein 41 homolog (mouse) Zinc fingers C2H2-type 28 2005-10-06 2012-11-27 2023-01-20 286128 ENSG00000181638 OTTHUMG00000164951 uc064qwy.1 NM_173832 CCDS6397 Q8N8Y5 11214971 MGI:99186 RGD:1307587 HGNC:26786 "ENST00000330701.7|NM_173832.6" HGNC:30949 ZFP42 ZFP42 zinc finger protein protein-coding gene gene with protein product Approved 4q35.2 04q35.2 "REX1|ZNF754" "zinc finger protein 42 homolog (mouse)|zinc finger protein 42" Zinc fingers C2H2-type 28 2005-05-09 2012-11-27 2023-01-20 132625 ENSG00000179059 OTTHUMG00000160235 uc003izh.2 AK056719 NM_174900 CCDS3849 Q96MM3 12110702 MGI:99187 RGD:2319133 614572 HGNC:30949 "ENST00000326866.5|NM_174900.5" HGNC:18791 ZFP57 ZFP57 zinc finger protein protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZNF698|bA145L22|bA145L22.2" C6orf40 "chromosome 6 open reading frame 40|zinc finger protein 57 homolog (mouse)" Zinc fingers C2H2-type 28 2003-11-26 2005-07-20 2012-11-27 2023-01-20 346171 ENSG00000204644 OTTHUMG00000031158 uc011dlw.2 AL050328 NM_001109809 "CCDS43436|CCDS93878" Q9NU63 MGI:99204 RGD:1302981 612192 206724 HGNC:18791 "ENST00000376883.2|NM_001109809.5" HGNC:18791 HGNC:23241 ZFP62 ZFP62 zinc finger protein protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ34231|ZET|ZNF755" "zinc finger protein 62 homolog (mouse)|zinc finger protein 62" Zinc fingers C2H2-type 28 2003-10-28 2012-11-27 2023-01-20 643836 ENSG00000196670 OTTHUMG00000162273 uc011dhe.3 AK002206 NM_152283 "CCDS47357|CCDS54955" Q8NB50 8808410 MGI:99662 RGD:1560191 610281 HGNC:23241 "ENST00000502412.2|NM_001172638.2" -HGNC:15940 ZFP64 ZFP64 zinc finger protein protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "FLJ10734|dJ831D17.1|FLJ12628|dJ548G19.1" ZNF338 "zinc finger protein 338|zinc finger protein 64 homolog (mouse)|zinc finger protein 64" Zinc fingers C2H2-type 28 2001-06-21 2012-11-27 2023-01-20 55734 ENSG00000020256 OTTHUMG00000032756 uc002xwk.4 AK001596 NM_018197 "CCDS82630|CCDS13440|CCDS13439|CCDS13442|CCDS13441" Q9NTW7 9034307 MGI:107342 RGD:1307948 618111 HGNC:15940 "ENST00000216923.5|NM_018197.3" +HGNC:15940 ZFP64 ZFP64 zinc finger protein protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "FLJ10734|dJ831D17.1|FLJ12628|dJ548G19.1" ZNF338 "zinc finger protein 338|zinc finger protein 64 homolog (mouse)|zinc finger protein 64" Zinc fingers C2H2-type 28 2001-06-21 2012-11-27 2023-01-20 55734 ENSG00000020256 OTTHUMG00000032756 uc002xwk.4 AK001596 NM_018197 "CCDS13439|CCDS82630|CCDS13442|CCDS13440|CCDS13441" Q9NTW7 9034307 MGI:107342 RGD:1307948 618111 HGNC:15940 "ENST00000216923.5|NM_018197.3" HGNC:19820 ZFP64P1 ZFP64 zinc finger protein pseudogene 1 pseudogene pseudogene Approved 14q22.1 14q22.1 ZNF405P "zinc finger protein 405 pseudogene|zinc finger protein 405 (pseudogene)|zinc finger protein 405, pseudogene|zinc finger protein 64 homolog (mouse) pseudogene 1" 2003-01-13 2011-02-25 2012-11-27 2017-10-25 319123 ENSG00000258491 OTTHUMG00000170900 NG_002504 PGOHUM00000292351 HGNC:19820 HGNC:24708 ZFP69 ZFP69 zinc finger protein protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "ZKSCAN23A|FLJ16030|ZFP69A|ZSCAN54A" ZFP69 zinc finger protein A ZNF642 zinc finger protein 642 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2004-11-03 2012-11-27 2012-11-27 2023-01-20 339559 ENSG00000187815 OTTHUMG00000007303 uc009vwb.4 AK122618 NM_198494 CCDS30686 Q49AA0 MGI:107794 RGD:2322990 617939 HGNC:24708 "ENST00000372706.6|NM_001320179.2" HGNC:28053 ZFP69B ZFP69 zinc finger protein B protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "ZKSCAN23B|FLJ34293|ZSCAN54B" ZNF643 zinc finger protein 643 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2004-11-03 2012-11-27 2012-11-27 2023-01-20 65243 ENSG00000187801 OTTHUMG00000007302 uc001cfn.3 BC017498 NM_023070 CCDS452 Q9UJL9 HGNC:28053 "ENST00000361584.5|NM_023070.3" HGNC:28682 ZFP82 ZFP82 zinc finger protein protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "MGC45380|KIAA1948" ZNF545 "zinc finger protein 545|zinc finger protein 82 homolog (mouse)|zinc finger protein 82" Zinc fingers C2H2-type 28 2004-02-13 2008-07-01 2012-11-27 2023-01-20 284406 ENSG00000181007 OTTHUMG00000048146 uc002ody.2 AL834267 NM_133466 CCDS12493 Q8N141 11853319 MGI:1890753 RGD:6499485 HGNC:28682 "ENST00000392161.4|NM_133466.4" -HGNC:23329 ZFP90 ZFP90 zinc finger protein protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "KIAA1954|NK10|ZNF756" zinc finger protein 90 homolog (mouse) Zinc fingers C2H2-type 28 2003-11-07 2012-11-27 2023-01-20 146198 ENSG00000184939 OTTHUMG00000177312 uc010cff.4 AK074332 NM_133458 "CCDS42183|CCDS82003|CCDS76892" Q8TF47 7576184 MGI:104786 RGD:1563077 609451 HGNC:23329 "ENST00000563169.7|NM_001305203.2" +HGNC:23329 ZFP90 ZFP90 zinc finger protein protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "KIAA1954|NK10|ZNF756" zinc finger protein 90 homolog (mouse) Zinc fingers C2H2-type 28 2003-11-07 2012-11-27 2023-01-20 146198 ENSG00000184939 OTTHUMG00000177312 uc010cff.4 AK074332 NM_133458 "CCDS76892|CCDS42183|CCDS82003" Q8TF47 7576184 MGI:104786 RGD:1563077 609451 HGNC:23329 "ENST00000563169.7|NM_001305203.2" HGNC:14983 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "PZF|ZNF757" "zinc finger protein homologous to Zfp91 in mouse|zinc finger protein 91 homolog (mouse)" Zinc fingers C2H2-type 28 2001-03-27 2020-03-09 2023-01-20 80829 ENSG00000186660 OTTHUMG00000137391 uc001nmx.5 AB056107 NM_053023 CCDS31553 Q96JP5 "12738986|20682767" MGI:104854 RGD:628736 619289 HGNC:14983 "ENST00000316059.7|NM_053023.5" HGNC:33441 ZFP91-CNTF ZFP91-CNTF readthrough (NMD candidate) other readthrough Approved 11q12.1 11q12.1 2011-05-31 2013-05-09 2023-03-15 386607 ENSG00000255073 OTTHUMG00000166280 uc058bpo.1 AB057443 NR_024091 12738986 HGNC:33441 HGNC:54652 ZFP91P1 ZFP91 pseudogene 1 pseudogene pseudogene Approved 2q14.3 02q14.3 2019-11-08 2019-11-08 100131832 ENSG00000274010 NG_008366 @@ -42825,7 +42827,7 @@ HGNC:12865 ZFP92 ZFP92 zinc finger protein protein-coding gene gene with protein HGNC:12868 ZFPL1 zinc finger protein like 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "D11S750|MCG4" zinc-finger protein in MEN1 region 1997-10-30 2016-02-12 2023-01-20 7542 ENSG00000162300 OTTHUMG00000165597 uc001ocq.2 NM_006782 CCDS8092 O95159 9653652 MGI:1891017 RGD:1586738 619397 HGNC:12868 "ENST00000294258.8|NM_006782.4" HGNC:19762 ZFPM1 zinc finger protein, FOG family member 1 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "FOG1|FOG|ZNF89A|ZC2HC11A" zinc finger protein, multitype 1 "Zinc fingers C2H2-type|Zinc fingers C2HC-type|PR/SET domain family|SET domain containing|MicroRNA protein coding host genes" "28|66|1197|1399|1691" 2002-11-26 2012-11-27 2023-01-20 161882 ENSG00000179588 OTTHUMG00000173152 uc002fkv.4 AF488691 NM_153813 CCDS32502 Q8IX07 MGI:1095400 RGD:1582810 601950 HGNC:19762 "ENST00000319555.8|NM_153813.3" HGNC:55351 ZFPM1-AS1 ZFPM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 Antisense RNAs 1987 2020-11-05 2020-11-05 100128882 ENSG00000261744 NR_148997 -HGNC:16700 ZFPM2 zinc finger protein, FOG family member 2 protein-coding gene gene with protein product Approved 8q23 08q23 "FOG2|hFOG-2|ZNF89B|ZC2HC11B" zinc finger protein, multitype 2 "Zinc fingers C2H2-type|Zinc fingers C2HC-type|PR/SET domain family|SET domain containing" "28|66|1197|1399" 2002-11-26 2012-11-27 2023-01-20 23414 ENSG00000169946 OTTHUMG00000164818 uc003ymd.4 AF119334 NM_001362836 "CCDS94333|CCDS47908" Q8WW38 "9927675|10438528" MGI:1334444 RGD:1306021 603693 120598 HGNC:16700 "ENST00000407775.7|NM_012082.4" HGNC:16700 +HGNC:16700 ZFPM2 zinc finger protein, FOG family member 2 protein-coding gene gene with protein product Approved 8q23 08q23 "FOG2|hFOG-2|ZNF89B|ZC2HC11B" zinc finger protein, multitype 2 "Zinc fingers C2H2-type|Zinc fingers C2HC-type|PR/SET domain family|SET domain containing" "28|66|1197|1399" 2002-11-26 2012-11-27 2023-01-20 23414 ENSG00000169946 OTTHUMG00000164818 uc003ymd.4 AF119334 NM_001362836 "CCDS47908|CCDS94333" Q8WW38 "9927675|10438528" MGI:1334444 RGD:1306021 603693 120598 HGNC:16700 "ENST00000407775.7|NM_012082.4" HGNC:16700 HGNC:50698 ZFPM2-AS1 ZFPM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q23.1 08q23.1 SCAT3 S-phase cancer-associated transcript 3 Antisense RNAs 1987 2014-06-09 2018-08-03 102723356 ENSG00000251003 OTTHUMG00000164861 BF244158 NR_125796 "29491376|29985481" ZFPM2-AS1 HGNC:50698 HGNC:17277 ZFR zinc finger RNA binding protein protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "ZFR1|SPG71" "Zinc fingers matrin-type|MicroRNA protein coding host genes" "84|1691" 2001-12-07 2023-01-20 51663 ENSG00000056097 OTTHUMG00000161979 uc003jhr.2 AF100742 NM_016107 CCDS34139 Q96KR1 "11574164|24482476" MGI:1341890 RGD:1311890 615635 403392 HGNC:17277 "ENST00000265069.13|NM_016107.5" HGNC:17277 HGNC:29189 ZFR2 zinc finger RNA binding protein 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 KIAA1086 KIAA1086 Zinc fingers matrin-type 84 2004-02-10 2008-03-25 2008-03-25 2023-01-20 23217 ENSG00000105278 OTTHUMG00000180918 uc002lyw.3 AB029009 NM_015174 "CCDS45922|CCDS45921" Q9UPR6 10470851 MGI:2143792 RGD:1304737 619284 HGNC:29189 "ENST00000262961.9|NM_015174.2" @@ -42834,22 +42836,22 @@ HGNC:28449 ZFTA zinc finger translocation associated protein-coding gene gene wi HGNC:17806 ZFTRAF1 zinc finger TRAF-type containing 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "CHRP|KIAA0496|MGC13010" CYHR1 "cysteine/histidine-rich 1|cysteine and histidine rich 1" "Ring finger proteins|Zinc fingers TRAF-type" "58|2139" 2001-12-17 2022-05-13 2022-05-13 2023-01-20 50626 ENSG00000187954 OTTHUMG00000165171 uc003zcv.3 NM_032687 CCDS83335 P0DTL6 10745073 MGI:1859320 RGD:11425062 616635 HGNC:17806 "ENST00000530374.6|NM_001330618.2" HGNC:12869 ZFX zinc finger protein X-linked protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 ZNF926 Zinc fingers C2H2-type 28 1988-07-06 2018-04-26 2023-01-20 7543 ENSG00000005889 OTTHUMG00000021264 uc004dbd.3 NM_003410 "CCDS14211|CCDS83461|CCDS55390" P17010 MGI:99211 RGD:1562664 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZFX 314980 HGNC:12869 "ENST00000304543.10|NM_003410.4" HGNC:40617 ZFX-AS1 ZFX antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.11 Xp22.11 ZFX antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2021-07-05 100873922 ENSG00000234230 OTTHUMG00000021263 uc031thb.1 NR_046657 ZFX-AS1 HGNC:40617 -HGNC:12870 ZFY zinc finger protein Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 ZNF911 Zinc fingers C2H2-type 28 1988-07-06 2018-04-30 2023-01-20 7544 ENSG00000067646 OTTHUMG00000036159 uc065cpg.1 L10393 NM_003411 "CCDS48201|CCDS48200|CCDS14774" P08048 2497060 MGI:99153 490000 HGNC:12870 "ENST00000155093.8|NM_003411.4" +HGNC:12870 ZFY zinc finger protein Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 ZNF911 Zinc fingers C2H2-type 28 1988-07-06 2018-04-30 2023-01-20 7544 ENSG00000067646 OTTHUMG00000036159 uc065cpg.1 L10393 NM_003411 "CCDS14774|CCDS48201|CCDS48200" P08048 2497060 MGI:99153 490000 HGNC:12870 "ENST00000155093.8|NM_003411.4" HGNC:38798 ZFY-AS1 ZFY antisense RNA 1 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 "ZFYAS|ZFY-AS" "ZFY antisense RNA (non-protein coding)|ZFY antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-08-05 2010-11-25 2012-08-15 2020-04-20 107987337 ENSG00000233070 OTTHUMG00000036156 uc065cpj.1 NR_144458 ZFY-AS1 HGNC:38798 -HGNC:13180 ZFYVE1 zinc finger FYVE-type containing 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "DFCP1|KIAA1589|TAFF1|PPP1R172" protein phosphatase 1, regulatory subunit 172 ZNFN2A1 "zinc finger protein, subfamily 2A (FYVE domain containing), 1|zinc finger, FYVE domain containing 1" Zinc fingers FYVE-type 81 2000-05-02 2003-03-07 2016-02-15 2023-01-20 53349 ENSG00000165861 OTTHUMG00000171365 uc001xnm.5 AF251025 NM_021260 "CCDS61498|CCDS9811|CCDS41969" Q9HBF4 "11024279|11256955" MGI:3026685 RGD:1307795 605471 HGNC:13180 "ENST00000556143.6|NM_021260.4" +HGNC:13180 ZFYVE1 zinc finger FYVE-type containing 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "DFCP1|KIAA1589|TAFF1|PPP1R172" protein phosphatase 1, regulatory subunit 172 ZNFN2A1 "zinc finger protein, subfamily 2A (FYVE domain containing), 1|zinc finger, FYVE domain containing 1" Zinc fingers FYVE-type 81 2000-05-02 2003-03-07 2016-02-15 2023-01-20 53349 ENSG00000165861 OTTHUMG00000171365 uc001xnm.5 AF251025 NM_021260 "CCDS41969|CCDS61498|CCDS9811" Q9HBF4 "11024279|11256955" MGI:3026685 RGD:1307795 605471 HGNC:13180 "ENST00000556143.6|NM_021260.4" HGNC:6775 ZFYVE9 zinc finger FYVE-type containing 9 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "SMADIP|SARA|PPP1R173" protein phosphatase 1, regulatory subunit 173 MADHIP "MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor|zinc finger, FYVE domain containing 9" Zinc fingers FYVE-type 81 2000-06-08 2004-05-26 2016-02-15 2023-03-15 9372 ENSG00000157077 OTTHUMG00000008061 uc001cto.5 AF104304 NM_007324 "CCDS563|CCDS564" O95405 9865696 MGI:2652838 RGD:1310856 603755 HGNC:6775 "ENST00000287727.8|NM_004799.4" HGNC:33359 ZFYVE9P1 zinc finger FYVE-type containing 9 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 zinc finger, FYVE domain containing 9 pseudogene 1 2010-09-28 2016-02-15 2020-04-20 100289259 ENSG00000229562 OTTHUMG00000022526 NG_022707 PGOHUM00000242043 HGNC:33359 HGNC:39046 ZFYVE9P2 zinc finger FYVE-type containing 9 pseudogene 2 pseudogene pseudogene Approved 2p24.2 02p24.2 zinc finger, FYVE domain containing 9 pseudogene 2 2010-09-28 2016-02-15 2016-02-15 100420972 ENSG00000214843 OTTHUMG00000151762 NG_023679 PGOHUM00000240587 HGNC:39046 HGNC:20756 ZFYVE16 zinc finger FYVE-type containing 16 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "KIAA0305|PPP1R69" "endofin|protein phosphatase 1, regulatory subunit 69" zinc finger, FYVE domain containing 16 "Zinc fingers FYVE-type|Protein phosphatase 1 regulatory subunits" "81|694" 2003-04-01 2016-02-15 2023-01-20 9765 ENSG00000039319 OTTHUMG00000108178 uc003kgq.6 AB002303 NM_014733 CCDS4050 Q7Z3T8 11546807 MGI:2145181 RGD:1564784 608880 HGNC:20756 "ENST00000505560.5|NM_001284236.3" -HGNC:20758 ZFYVE19 zinc finger FYVE-type containing 19 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "FLJ14840|ANCHR|MPFYVE" "abscission/nocut checkpoint regulator|MLL partner containing FYVE domain" zinc finger, FYVE domain containing 19 Zinc fingers FYVE-type 81 2003-04-01 2016-02-15 2023-01-20 84936 ENSG00000166140 OTTHUMG00000172537 uc001zmt.2 AK027746 NM_032850 "CCDS58355|CCDS58353|CCDS42025|CCDS58354" Q96K21 24814515 MGI:1919258 RGD:1561576 619635 HGNC:20758 "ENST00000355341.8|NM_001077268.2" -HGNC:20760 ZFYVE21 zinc finger FYVE-type containing 21 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "MGC2550|ZF21" zinc finger, FYVE domain containing 21 Zinc fingers FYVE-type 81 2003-04-01 2016-02-15 2023-01-20 79038 ENSG00000100711 OTTHUMG00000171651 uc001yoc.4 AK057816 NM_024071 "CCDS9985|CCDS55948" Q9BQ24 21768110 MGI:1915770 RGD:1311036 613504 HGNC:20760 "ENST00000311141.7|NM_024071.4" +HGNC:20758 ZFYVE19 zinc finger FYVE-type containing 19 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "FLJ14840|ANCHR|MPFYVE" "abscission/nocut checkpoint regulator|MLL partner containing FYVE domain" zinc finger, FYVE domain containing 19 Zinc fingers FYVE-type 81 2003-04-01 2016-02-15 2023-01-20 84936 ENSG00000166140 OTTHUMG00000172537 uc001zmt.2 AK027746 NM_032850 "CCDS58355|CCDS42025|CCDS58354|CCDS58353" Q96K21 24814515 MGI:1919258 RGD:1561576 619635 HGNC:20758 "ENST00000355341.8|NM_001077268.2" +HGNC:20760 ZFYVE21 zinc finger FYVE-type containing 21 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "MGC2550|ZF21" zinc finger, FYVE domain containing 21 Zinc fingers FYVE-type 81 2003-04-01 2016-02-15 2023-01-20 79038 ENSG00000100711 OTTHUMG00000171651 uc001yoc.4 AK057816 NM_024071 "CCDS55948|CCDS9985" Q9BQ24 21768110 MGI:1915770 RGD:1311036 613504 HGNC:20760 "ENST00000311141.7|NM_024071.4" HGNC:20761 ZFYVE26 zinc finger FYVE-type containing 26 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 KIAA0321 "spastizin|FYVE-CENT" SPG15 "spastic paraplegia 15 (complicated, autosomal recessive)|zinc finger, FYVE domain containing 26" Zinc fingers FYVE-type 81 2003-04-01 2016-02-15 2023-01-20 23503 ENSG00000072121 OTTHUMG00000171274 uc001xka.2 AB002319 NM_015346 CCDS9788 Q68DK2 "9205841|18394578" MGI:1924767 RGD:1307820 612012 159390 HGNC:20761 "ENST00000347230.9|NM_015346.4" HGNC:20761 -HGNC:26559 ZFYVE27 zinc finger FYVE-type containing 27 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "FLJ32919|SPG33" protrudin zinc finger, FYVE domain containing 27 Zinc fingers FYVE-type 81 2004-03-05 2016-02-15 2023-01-20 118813 ENSG00000155256 OTTHUMG00000018867 uc001kom.3 BC030621 NM_144588 "CCDS53563|CCDS53562|CCDS53565|CCDS31262|CCDS31263|CCDS31264|CCDS53564" Q5T4F4 14702039 MGI:1919602 RGD:735177 610243 471356 HGNC:26559 "ENST00000684270.1|NM_001385875.1" HGNC:26559 -HGNC:29334 ZFYVE28 zinc finger FYVE-type containing 28 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "KIAA1643|lst-2" lateral signaling target-2 homolog zinc finger, FYVE domain containing 28 Zinc fingers FYVE-type 81 2004-03-05 2016-02-15 2023-01-20 57732 ENSG00000159733 OTTHUMG00000160292 uc003gex.3 AK126692 NM_001172659 "CCDS54708|CCDS54712|CCDS54709|CCDS54710|CCDS54711|CCDS33942" Q9HCC9 "10997877|29549365" MGI:2684992 RGD:1310151 614176 HGNC:29334 "ENST00000290974.7|NM_020972.3" +HGNC:26559 ZFYVE27 zinc finger FYVE-type containing 27 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "FLJ32919|SPG33" protrudin zinc finger, FYVE domain containing 27 Zinc fingers FYVE-type 81 2004-03-05 2016-02-15 2023-01-20 118813 ENSG00000155256 OTTHUMG00000018867 uc001kom.3 BC030621 NM_144588 "CCDS31264|CCDS31263|CCDS31262|CCDS53562|CCDS53565|CCDS53564|CCDS53563" Q5T4F4 14702039 MGI:1919602 RGD:735177 610243 471356 HGNC:26559 "ENST00000684270.1|NM_001385875.1" HGNC:26559 +HGNC:29334 ZFYVE28 zinc finger FYVE-type containing 28 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "KIAA1643|lst-2" lateral signaling target-2 homolog zinc finger, FYVE domain containing 28 Zinc fingers FYVE-type 81 2004-03-05 2016-02-15 2023-01-20 57732 ENSG00000159733 OTTHUMG00000160292 uc003gex.3 AK126692 NM_001172659 "CCDS54708|CCDS54709|CCDS33942|CCDS54712|CCDS54711|CCDS54710" Q9HCC9 "10997877|29549365" MGI:2684992 RGD:1310151 614176 HGNC:29334 "ENST00000290974.7|NM_020972.3" HGNC:30961 ZG16 zymogen granule protein 16 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "hZG16|JCLN1|ZG16A" JCLN "jacalin-like lectin domain containing|zymogen granule protein 16 homolog (rat)" 2009-01-05 2009-03-11 2012-12-07 2023-01-20 653808 ENSG00000174992 OTTHUMG00000177139 uc002dtr.5 AK125559 NM_152338 CCDS54000 O60844 21110947 MGI:1916286 RGD:620346 617311 HGNC:30961 "ENST00000400752.6|NM_152338.4" HGNC:30456 ZG16B zymogen granule protein 16B protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HRPE773|PRO1567|JCLN2" jacalin-like lectin domain containing 2 zymogen granule protein 16 homolog B (rat) 2009-03-11 2012-12-07 2023-01-20 124220 ENSG00000162078 OTTHUMG00000128933 uc002cru.4 BC009722 NM_145252 CCDS10479 Q96DA0 21110947 "MGI:106021|MGI:3694550" RGD:1562673 HGNC:30456 "ENST00000382280.8|NM_145252.3" HGNC:37245 ZGLP1 zinc finger GATA like protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "GLP1|GLP-1|GATAD3" "GATA like protein 1|GATA zinc finger domain containing 3" GATA zinc finger domain containing 82 2009-10-02 2019-01-18 2023-01-20 100125288 ENSG00000220201 OTTHUMG00000152114 uc002mnw.5 AK096830 NM_001103167 CCDS45959 P0C6A0 16982049 MGI:3696042 RGD:2322460 611639 HGNC:37245 -HGNC:15948 ZGPAT zinc finger CCCH-type and G-patch domain containing protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "dJ583P15.3|MGC44880|FLJ14972|ZC3HDC9|ZC3H9|GPATC6|GPATCH6|ZIP" KIAA1847 "KIAA1847|zinc finger CCCH-type with G-patch domain" "Zinc fingers CCCH-type|G-patch domain containing" "73|579" 2003-11-21 2004-12-01 2016-02-12 2023-01-20 84619 ENSG00000197114 OTTHUMG00000032998 uc002ygi.3 AK027878 NM_181484 "CCDS56203|CCDS13534|CCDS13535" Q8N5A5 16952911 MGI:2449939 RGD:1310801 619577 HGNC:15948 "ENST00000355969.11|NM_181485.3" +HGNC:15948 ZGPAT zinc finger CCCH-type and G-patch domain containing protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "dJ583P15.3|MGC44880|FLJ14972|ZC3HDC9|ZC3H9|GPATC6|GPATCH6|ZIP" KIAA1847 "KIAA1847|zinc finger CCCH-type with G-patch domain" "Zinc fingers CCCH-type|G-patch domain containing" "73|579" 2003-11-21 2004-12-01 2016-02-12 2023-01-20 84619 ENSG00000197114 OTTHUMG00000032998 uc002ygi.3 AK027878 NM_181484 "CCDS13534|CCDS56203|CCDS13535" Q8N5A5 16952911 MGI:2449939 RGD:1310801 619577 HGNC:15948 "ENST00000355969.11|NM_181485.3" HGNC:25654 ZGRF1 zinc finger GRF-type containing 1 protein-coding gene gene with protein product Approved 4q25 04q25 FLJ11331 C4orf21 chromosome 4 open reading frame 21 "Zinc fingers GRF-type|UPF1 like RNA helicases" "135|1169" 2006-03-24 2014-02-18 2016-02-12 2023-01-20 55345 ENSG00000138658 OTTHUMG00000132908 BC044799 NM_018392 CCDS3700 Q86YA3 12477932 MGI:1918893 RGD:1305834 HGNC:25654 "ENST00000505019.6|NM_018392.5" HGNC:12871 ZHX1 zinc fingers and homeoboxes 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 zinc-fingers and homeoboxes 1 "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1999-08-19 2004-01-23 2023-01-20 11244 ENSG00000165156 OTTHUMG00000165088 uc003yqe.4 AF106862 NM_001017926 CCDS6342 Q9UKY1 10441475 MGI:109271 RGD:620010 604764 8596 HGNC:12871 "ENST00000395571.8|NM_007222.5" HGNC:42975 ZHX1-C8orf76 ZHX1-C8orf76 readthrough other readthrough Approved 8q24.13 08q24.13 2011-09-28 2014-03-20 2014-03-20 2023-03-15 100533106 ENSG00000259305 OTTHUMG00000165087 uc064pxh.1 NM_001204180 Q96EF9 MGI:1923008 HGNC:42975 @@ -42858,54 +42860,54 @@ HGNC:15935 ZHX3 zinc fingers and homeoboxes 3 protein-coding gene gene with prot HGNC:12872 ZIC1 Zic family member 1 protein-coding gene gene with protein product Approved 3q24 03q24 "ZIC|ZNF201" "Zic family member 1 (odd-paired Drosophila homolog)|Zic family member 1 (odd-paired homolog, Drosophila)" Zinc fingers C2H2-type 28 1997-10-09 2011-05-19 2023-01-20 7545 ENSG00000152977 OTTHUMG00000159456 uc003ewe.4 D76435 NM_003412 CCDS3136 Q15915 8542595 MGI:106683 RGD:620110 600470 120606 HGNC:12872 "ENST00000282928.5|NM_003412.4" HGNC:12872 HGNC:12873 ZIC2 Zic family member 2 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 HPE5 Zinc finger protein of the cerebellum 2 "Zic family member 2 (odd-paired Drosophila homolog)|Zic family member 2 (odd-paired homolog, Drosophila)" Zinc fingers C2H2-type 28 1998-04-27 2011-05-19 2023-01-20 7546 ENSG00000043355 OTTHUMG00000017279 uc001von.4 AF104902 NM_007129 CCDS9495 O95409 9771712 MGI:106679 RGD:1311174 LRG_1157|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1157.xml 603073 120610 HGNC:12873 "ENST00000376335.8|NM_007129.5" HGNC:12873 HGNC:12874 ZIC3 Zic family member 3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "HTX|ZNF203" HTX1 "heterotaxy 1|Zic family member 3 (odd-paired homolog, Drosophila)" Zinc fingers C2H2-type 28 1993-11-16 2011-05-19 2023-01-20 7547 ENSG00000156925 OTTHUMG00000022525 uc004fak.4 AF028706 NM_001330661 "CCDS83494|CCDS14663" O60481 "8298651|7747776" MGI:106676 RGD:1561261 300265 120613 HGNC:12874 "ENST00000287538.10|NM_003413.4" HGNC:12874 -HGNC:20393 ZIC4 Zic family member 4 protein-coding gene gene with protein product Approved 3q24 03q24 zinc finger protein of the cerebellum 4 Zinc fingers C2H2-type 28 2003-02-03 2003-02-21 2023-01-20 84107 ENSG00000174963 OTTHUMG00000037281 uc003ewd.3 AF332509 NM_001168378 "CCDS58857|CCDS54652|CCDS43160|CCDS54653" Q8N9L1 MGI:107201 RGD:1307298 608948 120618 HGNC:20393 "ENST00000383075.8|NM_032153.6" +HGNC:20393 ZIC4 Zic family member 4 protein-coding gene gene with protein product Approved 3q24 03q24 zinc finger protein of the cerebellum 4 Zinc fingers C2H2-type 28 2003-02-03 2003-02-21 2023-01-20 84107 ENSG00000174963 OTTHUMG00000037281 uc003ewd.3 AF332509 NM_001168378 "CCDS54652|CCDS43160|CCDS58857|CCDS54653" Q8N9L1 MGI:107201 RGD:1307298 608948 120618 HGNC:20393 "ENST00000383075.8|NM_032153.6" HGNC:40920 ZIC4-AS1 ZIC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q24 03q24 ZIC4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100873950 ENSG00000241202 OTTHUMG00000159453 uc062ott.1 NR_046703 ZIC4-AS1 HGNC:20322 ZIC5 Zic family member 5 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 Zic family member 5 (odd-paired homolog, Drosophila) Zinc fingers C2H2-type 28 2003-01-30 2011-05-19 2023-01-20 85416 ENSG00000139800 OTTHUMG00000017280 uc001vom.2 AF378304 NM_033132 CCDS9494 Q96T25 MGI:1929518 RGD:1310160 617896 HGNC:20322 "ENST00000267294.5|NM_033132.5" -HGNC:33104 ZIK1 zinc finger protein interacting with K protein 1 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZNF762 zinc finger protein interacting with K protein 1 homolog (mouse) Zinc fingers C2H2-type 28 2006-08-11 2012-12-07 2023-01-20 284307 ENSG00000171649 OTTHUMG00000183468 uc002qpg.4 AK092538 NM_001010879 "CCDS33135|CCDS82408|CCDS82407" Q3SY52 MGI:108070 RGD:1590949 HGNC:33104 "ENST00000597850.2|NM_001010879.4" +HGNC:33104 ZIK1 zinc finger protein interacting with K protein 1 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZNF762 zinc finger protein interacting with K protein 1 homolog (mouse) Zinc fingers C2H2-type 28 2006-08-11 2012-12-07 2023-01-20 284307 ENSG00000171649 OTTHUMG00000183468 uc002qpg.4 AK092538 NM_001010879 "CCDS82407|CCDS33135|CCDS82408" Q3SY52 MGI:108070 RGD:1590949 HGNC:33104 "ENST00000597850.2|NM_001010879.4" HGNC:38031 ZIK1P1 zinc finger protein interacting with K protein 1 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 zinc finger protein interacting with K protein 1 homolog (mouse) pseudogene 1 2010-03-23 2012-12-07 2014-11-19 100131493 ENSG00000237426 OTTHUMG00000022340 NG_033796 PGOHUM00000241528 HGNC:38031 -HGNC:12875 ZIM2 zinc finger imprinted 2 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZNF656 Zinc fingers C2H2-type 28 1999-10-20 2016-03-07 2023-01-20 23619 ENSG00000269699 OTTHUMG00000171953 uc010etp.4 AF166122 NM_001146326 "CCDS92697|CCDS33123" Q9NZV7 HGNC:12875 "ENST00000629319.3|NM_001387356.1" +HGNC:12875 ZIM2 zinc finger imprinted 2 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZNF656 Zinc fingers C2H2-type 28 1999-10-20 2016-03-07 2023-01-20 23619 ENSG00000269699 OTTHUMG00000171953 uc010etp.4 AF166122 NM_001146326 "CCDS33123|CCDS92697" Q9NZV7 HGNC:12875 "ENST00000629319.3|NM_001387356.1" HGNC:51304 ZIM2-AS1 ZIM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 ZIM2as Antisense RNAs 1987 2014-09-26 2014-09-26 101929059 ENSG00000269793 OTTHUMG00000182160 NR_110744 19539734 ZIM2-AS1 HGNC:51304 HGNC:16366 ZIM3 zinc finger imprinted 3 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZNF657 Zinc fingers C2H2-type 28 2001-08-23 2016-03-07 2023-01-20 114026 ENSG00000141946 OTTHUMG00000183102 uc002qnz.1 AF365931 NM_052882 CCDS33125 Q96PE6 RGD:6499280 HGNC:16366 "ENST00000269834.1|NM_052882.1" -HGNC:13101 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "KOX18|PHZ-37|ZSCAN33" "ZNF139|ZNF36" zinc finger protein 36 (KOX 18) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-09-30 2004-11-17 2004-11-16 2023-01-20 7586 ENSG00000106261 OTTHUMG00000156534 uc003usk.3 X52349 NM_003439 "CCDS34698|CCDS75640|CCDS69349" P17029 MGI:1921820 RGD:1560616 601260 HGNC:13101 "ENST00000324306.11|NM_003439.4" +HGNC:13101 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "KOX18|PHZ-37|ZSCAN33" "ZNF139|ZNF36" zinc finger protein 36 (KOX 18) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-09-30 2004-11-17 2004-11-16 2023-01-20 7586 ENSG00000106261 OTTHUMG00000156534 uc003usk.3 X52349 NM_003439 "CCDS69349|CCDS34698|CCDS75640" P17029 MGI:1921820 RGD:1560616 601260 HGNC:13101 "ENST00000324306.11|NM_003439.4" HGNC:25677 ZKSCAN2 zinc finger with KRAB and SCAN domains 2 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "FLJ23199|ZSCAN34" ZNF694 zinc finger protein 694 "Zinc fingers C2H2-type|SCAN domain containing|Myb/SANT domain containing" "28|42|532" 2005-05-13 2007-02-20 2007-02-20 2023-01-20 342357 ENSG00000155592 OTTHUMG00000177180 uc002dod.5 AK026852 NM_001012981 CCDS32410 Q63HK3 MGI:2444060 RGD:1359568 HGNC:25677 "ENST00000328086.12|NM_001012981.5" HGNC:53912 ZKSCAN2-DT ZKSCAN2 divergent transcript non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 CTD-2547G23.4 Divergent transcripts 1990 2018-05-24 2018-06-07 112577464 ENSG00000274925 OTTHUMG00000186827 NR_170220 29780284 -HGNC:13853 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "Zfp47|ZF47|ZSCAN35" "ZNF306|ZNF309" "zinc finger protein 306|zinc finger protein 309" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2001-09-20 2007-02-20 2007-02-20 2023-01-20 80317 ENSG00000189298 OTTHUMG00000014521 uc003nle.4 U71601 NM_024493 "CCDS4650|CCDS56408" Q9BRR0 "10520746|22531714" MGI:1919989 RGD:1305753 612791 HGNC:13853 "ENST00000252211.7|NM_024493.4" +HGNC:13853 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "Zfp47|ZF47|ZSCAN35" "ZNF306|ZNF309" "zinc finger protein 306|zinc finger protein 309" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2001-09-20 2007-02-20 2007-02-20 2023-01-20 80317 ENSG00000189298 OTTHUMG00000014521 uc003nle.4 U71601 NM_024493 "CCDS56408|CCDS4650" Q9BRR0 "10520746|22531714" MGI:1919989 RGD:1305753 612791 HGNC:13853 "ENST00000252211.7|NM_024493.4" HGNC:13854 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "p373c6.1|P1P373C6|FLJ32136|ZSCAN36" "ZNF307|ZNF427" "zinc finger protein 307|zinc finger protein 427" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-11-27 2007-02-20 2007-02-20 2023-01-20 387032 ENSG00000187626 OTTHUMG00000014511 uc003nks.2 AK056698 NM_019110 CCDS4647 Q969J2 19008334 MGI:3649412 RGD:1309004 611643 HGNC:13854 "ENST00000377294.3|NM_019110.5" HGNC:12867 ZKSCAN5 zinc finger with KRAB and SCAN domains 5 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "ZNF914|ZSCAN37" ZFP95 "zinc finger protein homologous to Zfp95 in mouse|zinc finger protein 95 homolog (mouse)" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-08-23 2007-02-20 2007-02-20 2023-01-20 23660 ENSG00000196652 OTTHUMG00000156749 uc003uqv.4 AF170025 NM_014569 CCDS5667 Q9Y2L8 10585779 MGI:107533 RGD:1311175 611272 HGNC:12867 "ENST00000326775.10|NM_145102.4" -HGNC:12955 ZKSCAN7 zinc finger with KRAB and SCAN domains 7 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ12738|ZSCAN39" "ZNF64|ZNF448|ZNF167" "zinc finger protein 64|zinc finger protein 448|zinc finger protein 167" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1995-06-01 2013-01-09 2013-01-09 2023-01-20 55888 ENSG00000196345 OTTHUMG00000186378 uc003cnj.5 "L32164|AY280798" NM_018651 "CCDS74924|CCDS2714|CCDS2715" Q9P0L1 "7814019|1505991" MGI:3040678 RGD:1305242 HGNC:12955 "ENST00000426540.6|NM_001288590.2" +HGNC:12955 ZKSCAN7 zinc finger with KRAB and SCAN domains 7 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ12738|ZSCAN39" "ZNF64|ZNF448|ZNF167" "zinc finger protein 64|zinc finger protein 448|zinc finger protein 167" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1995-06-01 2013-01-09 2013-01-09 2023-01-20 55888 ENSG00000196345 OTTHUMG00000186378 uc003cnj.5 "L32164|AY280798" NM_018651 "CCDS74924|CCDS2715|CCDS2714" Q9P0L1 "7814019|1505991" MGI:3040678 RGD:1305242 HGNC:12955 "ENST00000426540.6|NM_001288590.2" HGNC:53964 ZKSCAN7-AS1 ZKSCAN7 ZNF cluster antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 RP11-944L7.4 Antisense RNAs 1987 2018-07-04 2018-07-04 112840933 ENSG00000236869 OTTHUMG00000156455 NR_157564 29959764 HGNC:53964 HGNC:49867 ZKSCAN7P1 zinc finger with KRAB and SCAN domains 7 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 2014-03-18 2014-03-18 100419827 ENSG00000256138 OTTHUMG00000168843 NG_050635 PGOHUM00000239695 HGNC:49867 HGNC:12983 ZKSCAN8 zinc finger with KRAB and SCAN domains 8 protein-coding gene gene with protein product Approved 6p21 06p21 "LD5-1|ZSCAN40" ZNF192 zinc finger protein 192 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1997-02-14 2013-01-09 2013-01-09 2023-01-20 7745 ENSG00000198315 OTTHUMG00000014510 uc003nkn.3 NM_001278119 Q15776 MGI:1913815 RGD:1308983 602240 HGNC:12983 "ENST00000330236.7|NM_006298.4" HGNC:18777 ZKSCAN8P1 ZKSCAN8 pseudogene 1 other unknown Approved 6p22.1 06p22.1 "dJ265C24.4|ZNF389P" zinc finger protein 389, pseudogene "ZNF389|ZNF192P1" "zinc finger protein 389|zinc finger protein 192 pseudogene 1" 2004-01-16 2021-03-24 2021-03-24 2022-09-16 651302 ENSG00000226314 OTTHUMG00000014513 NR_103448 HGNC:18777 HGNC:42862 ZKSCAN8P2 ZKSCAN8 pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 ZNF192P2 zinc finger protein 192 pseudogene 2 2011-08-31 2021-03-24 2021-03-24 2021-03-24 222701 ENSG00000218016 OTTHUMG00000014514 NG_006136 PGOHUM00000243544 HGNC:42862 -HGNC:29377 ZMAT1 zinc finger matrin-type 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 KIAA1789 Zinc fingers matrin-type 84 2004-09-06 2016-02-12 2023-03-15 84460 ENSG00000166432 OTTHUMG00000022044 uc011mrl.3 Z69304 NM_001011657 "CCDS94643|CCDS35348" Q5H9K5 MGI:2442284 RGD:1565344 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZMAT1 301007 HGNC:29377 "ENST00000651725.2|NM_001394560.1" +HGNC:29377 ZMAT1 zinc finger matrin-type 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 KIAA1789 Zinc fingers matrin-type 84 2004-09-06 2016-02-12 2023-03-15 84460 ENSG00000166432 OTTHUMG00000022044 uc011mrl.3 Z69304 NM_001011657 "CCDS35348|CCDS94643" Q5H9K5 MGI:2442284 RGD:1565344 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZMAT1 301007 HGNC:29377 "ENST00000651725.2|NM_001394560.1" HGNC:26433 ZMAT2 zinc finger matrin-type 2 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "FLJ31121|hSNU23|Snu23" "Zinc fingers matrin-type|Spliceosomal B complex" "84|1507" 2004-09-06 2016-02-12 2023-01-20 153527 ENSG00000146007 OTTHUMG00000129503 uc003lgy.2 AK055683 NM_144723 CCDS4239 Q96NC0 30380419 MGI:1913742 RGD:1583592 619930 HGNC:26433 "ENST00000274712.8|NM_144723.3" HGNC:26433 -HGNC:29983 ZMAT3 zinc finger matrin-type 3 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "WIG1|MGC10613|FLJ12296|WIG-1|PAG608" Zinc fingers matrin-type 84 2006-06-30 2016-02-12 2023-01-20 64393 ENSG00000172667 OTTHUMG00000157290 uc003fjg.5 AK122768 NM_152240 "CCDS3224|CCDS46962" Q9HA38 "9400996|11689294" MGI:1195270 RGD:620134 606452 HGNC:29983 "ENST00000311417.7|NM_022470.4" -HGNC:25844 ZMAT4 zinc finger matrin-type 4 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 FLJ13842 Zinc fingers matrin-type 84 2005-03-22 2016-02-12 2023-01-20 79698 ENSG00000165061 OTTHUMG00000164049 uc003xnr.5 AK023904 NM_024645 "CCDS34885|CCDS47848" Q9H898 21269563 MGI:2443497 RGD:1584398 HGNC:25844 "ENST00000297737.11|NM_024645.3" +HGNC:29983 ZMAT3 zinc finger matrin-type 3 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "WIG1|MGC10613|FLJ12296|WIG-1|PAG608" Zinc fingers matrin-type 84 2006-06-30 2016-02-12 2023-01-20 64393 ENSG00000172667 OTTHUMG00000157290 uc003fjg.5 AK122768 NM_152240 "CCDS46962|CCDS3224" Q9HA38 "9400996|11689294" MGI:1195270 RGD:620134 606452 HGNC:29983 "ENST00000311417.7|NM_022470.4" +HGNC:25844 ZMAT4 zinc finger matrin-type 4 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 FLJ13842 Zinc fingers matrin-type 84 2005-03-22 2016-02-12 2023-01-20 79698 ENSG00000165061 OTTHUMG00000164049 uc003xnr.5 AK023904 NM_024645 "CCDS47848|CCDS34885" Q9H898 21269563 MGI:2443497 RGD:1584398 HGNC:25844 "ENST00000297737.11|NM_024645.3" HGNC:28046 ZMAT5 zinc finger matrin-type 5 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 SNRNP20 "U11/U12 snRNP 20K|zinc finger CCCH-type containing 19" ZC3H19 zinc finger CCCH-type containing 19 "Zinc fingers CCCH-type|Zinc fingers matrin-type|U11/U12 di-snRNP" "73|84|1521" 2005-05-12 2015-07-06 2016-02-12 2023-01-20 55954 ENSG00000100319 OTTHUMG00000151292 uc003agn.4 NM_019103 CCDS13868 Q9UDW3 9847074 MGI:1914428 RGD:1559774 619741 HGNC:28046 "ENST00000344318.4|NM_001003692.2" HGNC:16493 ZMIZ1 zinc finger MIZ-type containing 1 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "RP11-519K18.1|KIAA1224|FLJ13541|hZIMP10|Zimp10|MIZ" RAI17 retinoic acid induced 17 Zinc fingers MIZ-type 85 2001-12-07 2006-10-24 2016-02-12 2023-01-20 57178 ENSG00000108175 OTTHUMG00000018560 uc001kaf.3 AB033050 NM_020338 CCDS7357 Q9ULJ6 15626329 MGI:3040693 RGD:1311620 607159 HGNC:16493 "ENST00000334512.10|NM_020338.4" HGNC:16493 HGNC:27433 ZMIZ1-AS1 ZMIZ1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2013-02-15 2014-11-19 283050 ENSG00000224596 OTTHUMG00000018559 uc001jzz.4 NR_024431 ZMIZ1-AS1 HGNC:27433 -HGNC:22229 ZMIZ2 zinc finger MIZ-type containing 2 protein-coding gene gene with protein product Approved 7p13 07p13 "KIAA1886|hZIMP7|ZIMP7|DKFZp761I2123|NET27" Zinc fingers MIZ-type 85 2006-10-24 2016-02-12 2023-01-20 83637 ENSG00000122515 OTTHUMG00000155817 uc003tlr.4 AK090415 NM_031449 "CCDS43577|CCDS75591|CCDS43576" Q8NF64 MGI:106374 RGD:1309256 611196 HGNC:22229 "ENST00000309315.9|NM_031449.4" +HGNC:22229 ZMIZ2 zinc finger MIZ-type containing 2 protein-coding gene gene with protein product Approved 7p13 07p13 "KIAA1886|hZIMP7|ZIMP7|DKFZp761I2123|NET27" Zinc fingers MIZ-type 85 2006-10-24 2016-02-12 2023-01-20 83637 ENSG00000122515 OTTHUMG00000155817 uc003tlr.4 AK090415 NM_031449 "CCDS75591|CCDS43577|CCDS43576" Q8NF64 MGI:106374 RGD:1309256 611196 HGNC:22229 "ENST00000309315.9|NM_031449.4" HGNC:12877 ZMPSTE24 zinc metallopeptidase STE24 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FACE-1|Ste24p|STE24|HGPS|PRO1" "Hutchinson-Gilford progeria syndrome|CAAX prenyl protease 1 homolog" "zinc metalloproteinase (STE24 homolog, yeast)|zinc metallopeptidase (STE24 homolog, yeast)|zinc metallopeptidase STE24 homolog (S. cerevisiae)" M48 metallopeptidase family 2105 1999-09-17 2012-12-10 2023-01-20 10269 ENSG00000084073 OTTHUMG00000005762 uc001cfg.5 Y13834 NM_005857 CCDS449 O75844 "10373325|9700155|16671095" MGI:1890508 RGD:1305570 "ZMPSTE24 @ LOVD|http://www.LOVD.nl/ZMPSTE24|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=ZMPSTE24|LRG_212|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_212.xml" 606480 120620 M48.003 3.4.24.84 HGNC:12877 "ENST00000372759.4|NM_005857.5" HGNC:12877 HGNC:55402 ZMPSTE24-DT ZMPSTE24 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-01-06 2021-01-06 120017338 ENSG00000259943 HGNC:26253 ZMYM1 zinc finger MYM-type containing 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ23151|MYM" zinc finger, MYM domain containing 1 Zinc fingers MYM-type 86 2004-03-29 2016-02-15 2023-01-20 79830 ENSG00000197056 OTTHUMG00000004374 uc031txc.2 AK096206 NM_024772 CCDS41302 Q5SVZ6 12477932 MGI:1915560 RGD:1307027 HGNC:26253 "ENST00000359858.9|NM_024772.5" HGNC:12989 ZMYM2 zinc finger MYM-type containing 2 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "RAMP|FIM|MYM" ZNF198 zinc finger protein 198 Zinc fingers MYM-type 86 1997-07-22 2006-07-13 2016-02-15 2023-01-20 7750 ENSG00000121741 OTTHUMG00000016507 uc031zxu.1 AF012126 NM_003453 CCDS45016 Q9UBW7 "9499416|9425908" MGI:1923257 RGD:1593255 ZMYM2 602221 HGNC:12989 "ENST00000610343.5|NM_197968.4" HGNC:12989 -HGNC:13054 ZMYM3 zinc finger MYM-type containing 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "ZNF198L2|DXS6673E|KIAA0385|MYM" zinc finger, myeloproliferative, and mental retardation-type 3 ZNF261 zinc finger protein 261 Zinc fingers MYM-type 86 1999-02-15 2005-12-19 2016-02-15 2023-01-20 9203 ENSG00000147130 OTTHUMG00000021799 uc004dzh.3 AB002383 NM_201599 "CCDS55444|CCDS14409|CCDS55443" Q14202 "10486218|28242625" MGI:1927231 RGD:1564967 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZMYM3 300061 471358 HGNC:13054 "ENST00000314425.9|NM_201599.3" HGNC:13054 +HGNC:13054 ZMYM3 zinc finger MYM-type containing 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "ZNF198L2|DXS6673E|KIAA0385|MYM" zinc finger, myeloproliferative, and mental retardation-type 3 ZNF261 zinc finger protein 261 Zinc fingers MYM-type 86 1999-02-15 2005-12-19 2016-02-15 2023-01-20 9203 ENSG00000147130 OTTHUMG00000021799 uc004dzh.3 AB002383 NM_201599 "CCDS14409|CCDS55444|CCDS55443" Q14202 "10486218|28242625" MGI:1927231 RGD:1564967 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZMYM3 300061 471358 HGNC:13054 "ENST00000314425.9|NM_201599.3" HGNC:13054 HGNC:13055 ZMYM4 zinc finger MYM-type containing 4 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "KIAA0425|ZNF198L3|MYM" ZNF262 zinc finger protein 262 Zinc fingers MYM-type 86 1999-02-15 2005-12-19 2016-02-15 2023-01-20 9202 ENSG00000146463 OTTHUMG00000004241 uc001byt.3 AB007885 NM_005095 CCDS389 Q5VZL5 10449923 MGI:1915035 RGD:1309545 613568 HGNC:13055 "ENST00000314607.11|NM_005095.3" HGNC:40624 ZMYM4-AS1 ZMYM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 ZMYM4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2014-11-19 100861513 ENSG00000227409 OTTHUMG00000004369 uc057eru.1 "BG187713|BG208679" NR_046659 ZMYM4-AS1 HGNC:40624 -HGNC:13029 ZMYM5 zinc finger MYM-type containing 5 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "ZNF198L1|MYM" Zinc finger protein 198-like 1 ZNF237 zinc finger protein 237 Zinc fingers MYM-type 86 1998-10-30 2005-09-12 2016-02-15 2023-03-15 9205 ENSG00000132950 OTTHUMG00000016504 uc010tcn.1 AF161535 NM_014242 "CCDS31943|CCDS31942" Q9UJ78 10894931 MGI:3041170 RGD:1306353 616443 HGNC:13029 "ENST00000337963.9|NM_001142684.2" HGNC:13029 +HGNC:13029 ZMYM5 zinc finger MYM-type containing 5 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "ZNF198L1|MYM" Zinc finger protein 198-like 1 ZNF237 zinc finger protein 237 Zinc fingers MYM-type 86 1998-10-30 2005-09-12 2016-02-15 2023-03-15 9205 ENSG00000132950 OTTHUMG00000016504 uc010tcn.1 AF161535 NM_014242 "CCDS31942|CCDS31943" Q9UJ78 10894931 MGI:3041170 RGD:1306353 616443 HGNC:13029 "ENST00000337963.9|NM_001142684.2" HGNC:13029 HGNC:13050 ZMYM6 zinc finger MYM-type containing 6 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "ZNF198L4|MYM|Buster2|ZBED7|KIAA1353" zinc finger, BED-type containing 7 ZNF258 zinc finger protein 258 Zinc fingers MYM-type 86 1999-02-15 2005-09-12 2016-02-15 2023-01-20 9204 ENSG00000163867 OTTHUMG00000004163 uc001byh.4 AF055470 NM_007167 CCDS387 O95789 "10486218|23533661" MGI:106505 RGD:1561833 613567 HGNC:13050 "ENST00000357182.9|NM_007167.4" HGNC:13050 -HGNC:9397 ZMYND8 zinc finger MYND-type containing 8 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "RACK7|KIAA1125" RACK like clone 7 PRKCBP1 protein kinase C binding protein 1 "Zinc fingers MYND-type|PHD finger proteins|PWWP domain containing|Bromodomain containing" "87|88|1147|1232" 1999-10-19 2007-01-29 2016-02-15 2023-01-20 23613 ENSG00000101040 OTTHUMG00000032667 uc061xnt.1 U48251 NM_183047 "CCDS63303|CCDS63305|CCDS63300|CCDS63304|CCDS74738|CCDS86962|CCDS86961|CCDS13404|CCDS63306|CCDS63301|CCDS46613|CCDS13405" Q9ULU4 "11003709|27477906" MGI:1918025 RGD:1309544 615713 objectId:2781 HGNC:9397 "ENST00000471951.7|NM_001281775.3" HGNC:9397 +HGNC:9397 ZMYND8 zinc finger MYND-type containing 8 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "RACK7|KIAA1125" RACK like clone 7 PRKCBP1 protein kinase C binding protein 1 "Zinc fingers MYND-type|PHD finger proteins|PWWP domain containing|Bromodomain containing" "87|88|1147|1232" 1999-10-19 2007-01-29 2016-02-15 2023-01-20 23613 ENSG00000101040 OTTHUMG00000032667 uc061xnt.1 U48251 NM_183047 "CCDS86961|CCDS86962|CCDS63306|CCDS46613|CCDS74738|CCDS63301|CCDS63305|CCDS63300|CCDS63304|CCDS13405|CCDS13404|CCDS63303" Q9ULU4 "11003709|27477906" MGI:1918025 RGD:1309544 615713 objectId:2781 HGNC:9397 "ENST00000471951.7|NM_001281775.3" HGNC:9397 HGNC:19412 ZMYND10 zinc finger MYND-type containing 10 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "BLU|CILD22|DNAAF7" "dynein axonemal assembly factor 7|Ciliary dyskinesia, primary, 22|tumor suppressor BLU" "Zinc fingers MYND-type|Axonemal dynein assembly factors" "87|1627" 2003-05-01 2016-02-15 2023-01-20 51364 ENSG00000004838 OTTHUMG00000156874 uc003dag.2 U70824 NM_015896 "CCDS2825|CCDS77747" O75800 "12629521|23891469" MGI:2387863 RGD:1303250 607070 360500 HGNC:19412 "ENST00000231749.8|NM_015896.4" HGNC:19412 HGNC:40890 ZMYND10-AS1 ZMYND10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 ZMYND10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874210 ENSG00000235058 OTTHUMG00000156875 uc062kef.1 ZMYND10-AS1 -HGNC:16966 ZMYND11 zinc finger MYND-type containing 11 protein-coding gene gene with protein product Approved 10p15.3 10p15.3 "BS69|BRAM1" "Zinc fingers MYND-type|PHD finger proteins|PWWP domain containing|Bromodomain containing" "87|88|1147|1232" 2004-04-20 2016-02-15 2023-03-15 10771 ENSG00000015171 OTTHUMG00000017526 uc010pzu.3 X86098 NM_006624 "CCDS55697|CCDS7053|CCDS73060|CCDS91196|CCDS91199|CCDS91198|CCDS7052|CCDS55696|CCDS91197|CCDS91194|CCDS91195" Q15326 "7621829|10734313|24590075" MGI:1913755 RGD:1303252 608668 444761 objectId:2782 HGNC:16966 "ENST00000381604.9|NM_001370100.5" HGNC:16966 +HGNC:16966 ZMYND11 zinc finger MYND-type containing 11 protein-coding gene gene with protein product Approved 10p15.3 10p15.3 "BS69|BRAM1" "Zinc fingers MYND-type|PHD finger proteins|PWWP domain containing|Bromodomain containing" "87|88|1147|1232" 2004-04-20 2016-02-15 2023-03-15 10771 ENSG00000015171 OTTHUMG00000017526 uc010pzu.3 X86098 NM_006624 "CCDS91198|CCDS91199|CCDS55696|CCDS91195|CCDS91194|CCDS73060|CCDS91197|CCDS91196|CCDS7052|CCDS7053|CCDS55697" Q15326 "7621829|10734313|24590075" MGI:1913755 RGD:1303252 608668 444761 objectId:2782 HGNC:16966 "ENST00000381604.9|NM_001370100.5" HGNC:16966 HGNC:21192 ZMYND12 zinc finger MYND-type containing 12 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 DKFZp434N2435 Zinc fingers MYND-type 87 2003-05-23 2016-02-15 2023-03-15 84217 ENSG00000066185 OTTHUMG00000007333 uc001chj.4 AK057384 NM_032257 CCDS467 Q9H0C1 11230166 MGI:2140259 RGD:1307175 HGNC:21192 "ENST00000372565.8|NM_032257.5" HGNC:20997 ZMYND15 zinc finger MYND-type containing 15 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 DKFZp434N127 Zinc fingers MYND-type 87 2003-05-01 2016-02-15 2023-01-20 84225 ENSG00000141497 OTTHUMG00000090760 uc002fyv.4 AL136893 NM_032265 "CCDS11053|CCDS58506|CCDS45584" Q9H091 "11230166|20675388" MGI:3603821 RGD:1309845 614312 401603 HGNC:20997 "ENST00000433935.6|NM_001136046.3" HGNC:20997 HGNC:21146 ZMYND19 zinc finger MYND-type containing 19 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MIZIP Zinc fingers MYND-type 87 2003-05-20 2016-02-15 2023-01-20 116225 ENSG00000165724 OTTHUMG00000020992 uc004cno.2 BC012948 NM_138462 CCDS7048 Q96E35 MGI:1914437 RGD:735079 611424 HGNC:21146 "ENST00000298585.3|NM_138462.3" HGNC:44540 ZMYND19P1 zinc finger MYND-type containing 19 pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 2012-11-15 2016-02-15 2016-02-15 100421055 ENSG00000258917 OTTHUMG00000171543 NG_027392 PGOHUM00000248238 HGNC:44540 -HGNC:12991 ZNF2 zinc finger protein 2 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 "A1-5|ZNF661|Zfp661" zinc finger protein 2 (A1-5) Zinc fingers C2H2-type 28 1989-05-31 2005-02-07 2023-01-20 7549 ENSG00000275111 OTTHUMG00000155150 uc032nuy.2 X60152 NM_021088 "CCDS77434|CCDS77435|CCDS62957|CCDS42712|CCDS42713" Q9BSG1 "8183940|1945843" MGI:1919430 RGD:6500748 194500 HGNC:12991 "ENST00000614034.5|NM_021088.4" +HGNC:12991 ZNF2 zinc finger protein 2 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 "A1-5|ZNF661|Zfp661" zinc finger protein 2 (A1-5) Zinc fingers C2H2-type 28 1989-05-31 2005-02-07 2023-01-20 7549 ENSG00000275111 OTTHUMG00000155150 uc032nuy.2 X60152 NM_021088 "CCDS77434|CCDS42713|CCDS62957|CCDS42712|CCDS77435" Q9BSG1 "8183940|1945843" MGI:1919430 RGD:6500748 194500 HGNC:12991 "ENST00000614034.5|NM_021088.4" HGNC:13089 ZNF3 zinc finger protein 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "A8-51|KOX25|PP838|FLJ20216|HF.12|Zfp113" zinc finger protein 3 (A8-51) Zinc fingers C2H2-type 28 1989-05-31 2006-05-05 2023-01-20 7551 ENSG00000166526 OTTHUMG00000154596 uc031syk.2 AF027136 NM_017715 "CCDS43619|CCDS43618|CCDS94152" P17036 MGI:1929116 RGD:6489147 194510 HGNC:13089 "ENST00000299667.9|NM_032924.5" -HGNC:13139 ZNF7 zinc finger protein 7 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KOX4|HF.16" zinc finger protein 7 (KOX 4, clone HF.16) Zinc fingers C2H2-type 28 1989-09-08 2006-05-09 2023-01-20 7553 ENSG00000147789 OTTHUMG00000165200 uc003zeh.4 AB209619 NM_003416 "CCDS83336|CCDS6435|CCDS94368|CCDS64998|CCDS64999|CCDS64996" P17097 "2106481|1946370" MGI:99208 RGD:1310636 194531 HGNC:13139 "ENST00000532777.6|NM_003416.4" +HGNC:13139 ZNF7 zinc finger protein 7 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KOX4|HF.16" zinc finger protein 7 (KOX 4, clone HF.16) Zinc fingers C2H2-type 28 1989-09-08 2006-05-09 2023-01-20 7553 ENSG00000147789 OTTHUMG00000165200 uc003zeh.4 AB209619 NM_003416 "CCDS94368|CCDS6435|CCDS64999|CCDS83336|CCDS64996|CCDS64998" P17097 "2106481|1946370" MGI:99208 RGD:1310636 194531 HGNC:13139 "ENST00000532777.6|NM_003416.4" HGNC:13154 ZNF8 zinc finger protein 8 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "HF.18|Zfp128" zinc finger protein 8 (clone HF.18) Zinc fingers C2H2-type 28 1989-09-08 2006-05-09 2023-01-20 7554 ENSG00000278129 OTTHUMG00000182073 uc002qry.2 M29581 NM_021089 CCDS12974 P17098 2106481 MGI:2389445 RGD:41193534 194532 HGNC:13154 "ENST00000621650.2|NM_021089.3" HGNC:55280 ZNF8-DT ZNF8 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Divergent transcripts 1990 2020-10-09 2020-10-09 105372482 ENSG00000268516 XR_007089286 HGNC:56757 ZNF8-ERVK3-1 ZNF8-ERVK3-1 readthrough (NMD candidate) other readthrough Approved 19q13.43 19q13.43 2023-02-22 2023-02-22 108903150 ENSG00000267216 NR_144447 @@ -42913,43 +42915,43 @@ HGNC:12879 ZNF10 zinc finger protein 10 protein-coding gene gene with protein pr HGNC:12902 ZNF12 zinc finger protein 12 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "KOX3|GIOT-3" ZNF325 zinc finger protein 325 Zinc fingers C2H2-type 28 1990-06-13 2005-06-09 2023-01-20 7559 ENSG00000164631 OTTHUMG00000151910 uc003sqt.3 "X52334|AB021643" NM_016265 "CCDS47538|CCDS47539" P17014 MGI:99157 RGD:1564396 194536 HGNC:12902 "ENST00000405858.6|NM_016265.4" HGNC:12924 ZNF14 zinc finger protein 14 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KOX6|GIOT-4" zinc finger protein 14 (KOX 6) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-01-20 7561 ENSG00000105708 OTTHUMG00000182362 uc002nnk.2 AA286756 NM_021030 CCDS12409 P17017 "MGI:3036263|MGI:3648690" RGD:620185 194556 HGNC:12924 "ENST00000344099.4|NM_021030.3" HGNC:12947 ZNF16 zinc finger protein 16 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KOX9 zinc finger protein 16 (KOX 9) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-01-20 7564 ENSG00000170631 OTTHUMG00000165253 uc003zet.3 X52340 NM_006958 CCDS6437 P17020 RGD:7613843 601262 HGNC:12947 "ENST00000394909.7|NM_006958.3" -HGNC:12958 ZNF17 zinc finger protein 17 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "HPF3|KOX10|KIAA1947|FLJ40864|FLJ46058|FLJ46615" zinc finger protein 17 (HPF3, KOX 10) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-01-20 7565 ENSG00000186272 OTTHUMG00000183371 uc002qoo.2 X52341 NM_006959 "CCDS82405|CCDS42636" P17021 "2115127|2014798" "MGI:1916754|MGI:3709324|MGI:3709333|MGI:3779623" 619254 HGNC:12958 "ENST00000307658.12|NM_001330617.2" +HGNC:12958 ZNF17 zinc finger protein 17 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "HPF3|KOX10|KIAA1947|FLJ40864|FLJ46058|FLJ46615" zinc finger protein 17 (HPF3, KOX 10) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-01-20 7565 ENSG00000186272 OTTHUMG00000183371 uc002qoo.2 X52341 NM_006959 "CCDS42636|CCDS82405" P17021 "2115127|2014798" "MGI:1916754|MGI:3709324|MGI:3709333|MGI:3779623" 619254 HGNC:12958 "ENST00000307658.12|NM_001330617.2" HGNC:12969 ZNF18 zinc finger protein 18 protein-coding gene gene with protein product Approved 17p12 17p12 "ZKSCAN6|KOX11|HDSG1|Zfp535|ZNF535|ZSCAN38" zinc finger protein 18 (KOX 11) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-06-13 2006-05-10 2023-01-20 7566 ENSG00000154957 OTTHUMG00000178307 uc002gnh.2 X52342 NM_001303282 "CCDS76957|CCDS32568" P17022 15702252 MGI:1289293 RGD:1305130 194524 HGNC:12969 "ENST00000580306.7|NM_001303281.2" HGNC:12981 ZNF19 zinc finger protein 19 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "KOX12|MGC51021" zinc finger protein 19 (KOX 12) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-01-20 7567 ENSG00000157429 OTTHUMG00000137593 uc002fam.2 X52343 NM_006961 CCDS10901 P17023 "1505991|1946370" 194525 HGNC:12981 "ENST00000288177.10|NM_006961.4" HGNC:12992 ZNF20 zinc finger protein 20 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 KOX13 zinc finger protein 20 (KOX 13) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-01-20 7568 ENSG00000132010 OTTHUMG00000156409 uc002mtf.3 X52344 NM_021143 CCDS45986 P17024 "MGI:3702412|MGI:3702417|MGI:3702875|MGI:3779223|MGI:3780177|MGI:3780195|MGI:3782813|MGI:3782904|MGI:3782921" 194557 HGNC:12992 "ENST00000334213.10|NM_021143.4" HGNC:13012 ZNF22 zinc finger protein 22 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "KOX15|HKR-T1|ZNF422|Zfp422" Zinc fingers C2H2-type 28 1990-06-13 2012-07-12 2023-01-20 7570 ENSG00000165512 OTTHUMG00000018064 uc001jbw.4 BC041139 NM_006963 CCDS7211 P17026 MGI:1914505 RGD:620229 194529 HGNC:13012 "ENST00000298299.4|NM_006963.5" HGNC:23509 ZNF22-AS1 ZNF22 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 FLJ30567 C10orf25 chromosome 10 open reading frame 25 Antisense RNAs 1987 2003-11-21 2019-10-04 2019-10-04 2023-03-15 220979 ENSG00000165511 OTTHUMG00000018066 uc057syf.1 AK055129 NR_126421 Q5T742 HGNC:23509 -HGNC:13023 ZNF23 zinc finger protein 23 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "KOX16|Zfp612|ZNF612" ZNF359 zinc finger protein 359 Zinc fingers C2H2-type 28 1990-06-13 2012-07-12 2023-01-20 7571 ENSG00000167377 OTTHUMG00000176797 uc002fah.4 X52347 NM_145911 "CCDS76895|CCDS10900|CCDS92194" P17027 MGI:2443465 RGD:1307197 194527 HGNC:13023 "ENST00000647773.2|NM_001381984.1" HGNC:13023 -HGNC:13032 ZNF24 zinc finger protein 24 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "ZSCAN3|Zfp191|KOX17" ZNF191 zinc finger protein 24 (KOX 17) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-06-13 2006-05-10 2023-01-20 7572 ENSG00000172466 OTTHUMG00000132565 uc002kys.3 AF016052 NM_006965 "CCDS77175|CCDS11912" P17028 MGI:1929704 RGD:727963 194534 HGNC:13032 "ENST00000261332.11|NM_006965.4" +HGNC:13023 ZNF23 zinc finger protein 23 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "KOX16|Zfp612|ZNF612" ZNF359 zinc finger protein 359 Zinc fingers C2H2-type 28 1990-06-13 2012-07-12 2023-01-20 7571 ENSG00000167377 OTTHUMG00000176797 uc002fah.4 X52347 NM_145911 "CCDS10900|CCDS76895|CCDS92194" P17027 MGI:2443465 RGD:1307197 194527 HGNC:13023 "ENST00000647773.2|NM_001381984.1" HGNC:13023 +HGNC:13032 ZNF24 zinc finger protein 24 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "ZSCAN3|Zfp191|KOX17" ZNF191 zinc finger protein 24 (KOX 17) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-06-13 2006-05-10 2023-01-20 7572 ENSG00000172466 OTTHUMG00000132565 uc002kys.3 AF016052 NM_006965 "CCDS11912|CCDS77175" P17028 MGI:1929704 RGD:727963 194534 HGNC:13032 "ENST00000261332.11|NM_006965.4" HGNC:55876 ZNF24TR ZNF24 transcription regulator non-coding RNA RNA, long non-coding Approved 18q12.2 18q12.2 ZNFTR Long non-coding RNAs with non-systematic symbols 1992 2021-10-07 2021-10-07 122965328 ENSG00000267583 XR_007066339 34480024 HGNC:13043 ZNF25 zinc finger protein 25 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "KOX19|FLJ31890|Zfp9" zinc finger protein 25 (KOX 19) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-01-20 219749 ENSG00000175395 OTTHUMG00000019344 uc001ize.2 AK056452 "NM_145011|NM_006966" CCDS7195 P17030 "1639412|8464732" MGI:99210 RGD:2293498 194528 HGNC:13043 "ENST00000302609.8|NM_145011.4" HGNC:54109 ZNF25-DT ZNF25 divergent transcript non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 Divergent transcripts 1990 2018-11-29 2018-11-29 105376499 ENSG00000226447 XR_001747428 HGNC:54109 HGNC:13053 ZNF26 zinc finger protein 26 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "KOX20|FLJ20755" zinc finger protein 26 (KOX 20) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-03-15 7574 ENSG00000198393 OTTHUMG00000167936 uc001ull.3 X52351 NM_019591 CCDS31939 P17031 194537 HGNC:13053 "ENST00000328654.10|NM_019591.4" HGNC:13073 ZNF28 zinc finger protein 28 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "KOX24|DKFZp781D0275" zinc finger protein 28 (KOX 24) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-01-20 7576 ENSG00000198538 OTTHUMG00000154564 uc002qad.4 X52355 NM_006969 "CCDS33093|CCDS92676|CCDS92677" P17035 "MGI:107768|MGI:1920860|MGI:1924450|MGI:1925501|MGI:2652824|MGI:3036263|MGI:3040674|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:13073 "ENST00000457749.7|NM_006969.5" HGNC:13080 ZNF29P zinc finger protein 29, pseudogene pseudogene pseudogene Approved 17p12 17p12 KOX26 ZNF29 "zinc finger protein 29 (KOX 26)|zinc finger protein 29 pseudogene|zinc finger protein 29 (pseudogene)" 1990-06-13 2009-11-20 2010-08-03 2021-04-27 7577 ENSG00000108452 OTTHUMG00000059142 X52357 NG_007542 2288909 194535 HGNC:13080 -HGNC:13090 ZNF30 zinc finger protein 30 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 "KOX28|DKFZp686N19164|FLJ20562" zinc finger protein 30 (KOX 28) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-01-20 90075 ENSG00000168661 OTTHUMG00000182960 uc010edr.2 X52359 NM_194325 "CCDS46044|CCDS46045" P17039 HGNC:13090 "ENST00000601142.2|NM_194325.3" +HGNC:13090 ZNF30 zinc finger protein 30 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 "KOX28|DKFZp686N19164|FLJ20562" zinc finger protein 30 (KOX 28) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2023-01-20 90075 ENSG00000168661 OTTHUMG00000182960 uc010edr.2 X52359 NM_194325 "CCDS46045|CCDS46044" P17039 HGNC:13090 "ENST00000601142.2|NM_194325.3" HGNC:51179 ZNF30-AS1 ZNF30 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Antisense RNAs 1987 2014-08-01 2014-08-01 102723513 ENSG00000270876 OTTHUMG00000184607 NR_110749 ZNF30-AS1 HGNC:51179 HGNC:13095 ZNF32 zinc finger protein 32 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "KOX30|ZNF637|Zfp637" zinc finger protein 32 (KOX 30) Zinc fingers C2H2-type 28 1990-06-13 2006-05-11 2023-01-20 7580 ENSG00000169740 OTTHUMG00000018043 uc001jbc.4 U69645 NM_006973 CCDS7206 P17041 MGI:2448537 RGD:1559850 194539 HGNC:13095 "ENST00000374433.7|NM_006973.3" HGNC:23577 ZNF32-AS1 ZNF32 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 bA402L1.8 ZNF32OS1 "zinc finger protein 32 opposite strand 1|ZNF32 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-09-02 2012-08-15 2016-11-24 414197 ENSG00000226245 OTTHUMG00000018036 uc031puq.1 NR_047557 ZNF32-AS1 HGNC:23577 HGNC:23593 ZNF32-AS2 ZNF32 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 b402L1.7 ZNF32OS2 "zinc finger protein 32 opposite strand 2|ZNF32 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-09-02 2012-08-15 2016-11-24 414208 ENSG00000230565 OTTHUMG00000018039 uc031pur.1 NR_047558 ZNF32-AS2 HGNC:23593 HGNC:23583 ZNF32-AS3 ZNF32 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 bA402L1.3 C10orf44 "chromosome 10 open reading frame 44|ZNF32 antisense RNA 3 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-09-16 2012-08-15 2014-11-19 414201 ENSG00000223910 OTTHUMG00000018037 uc001jba.3 BC033403 NR_038867 ZNF32-AS3 HGNC:23583 -HGNC:13096 ZNF33A zinc finger protein 33A protein-coding gene gene with protein product Approved 10p11.1 10p11.1 "KOX5|KOX31|KIAA0065|FLJ23404|ZZAPK" zinc finger and ZAK associated protein with KRAB domain "ZNF33|ZNF11A" "zinc finger protein 33a (KOX 31)|zinc finger protein 11A" Zinc fingers C2H2-type 28 1990-06-13 2005-03-18 2023-01-20 7581 ENSG00000189180 OTTHUMG00000017983 uc001izh.4 D31763 NM_006974 "CCDS44372|CCDS60514|CCDS31182|CCDS73088|CCDS73089" Q06730 "2014798|8464732" 194521 HGNC:13096 "ENST00000432900.7|NM_006954.2" +HGNC:13096 ZNF33A zinc finger protein 33A protein-coding gene gene with protein product Approved 10p11.1 10p11.1 "KOX5|KOX31|KIAA0065|FLJ23404|ZZAPK" zinc finger and ZAK associated protein with KRAB domain "ZNF33|ZNF11A" "zinc finger protein 33a (KOX 31)|zinc finger protein 11A" Zinc fingers C2H2-type 28 1990-06-13 2005-03-18 2023-01-20 7581 ENSG00000189180 OTTHUMG00000017983 uc001izh.4 D31763 NM_006974 "CCDS73089|CCDS44372|CCDS60514|CCDS73088|CCDS31182" Q06730 "2014798|8464732" 194521 HGNC:13096 "ENST00000432900.7|NM_006954.2" HGNC:13097 ZNF33B zinc finger protein 33B protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "KOX31|KOX2" ZNF11B "zinc finger protein 33b (KOX 31)|zinc finger protein 11B" Zinc fingers C2H2-type 28 1991-09-13 2005-03-18 2023-01-20 7582 ENSG00000196693 OTTHUMG00000018014 uc001jaf.1 "X68688|AJ491697" NM_006955 CCDS7198 Q06732 2014798 194522 HGNC:13097 "ENST00000359467.8|NM_006955.3" HGNC:44975 ZNF33BP1 zinc finger protein 33B pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 2012-12-20 2021-04-27 100419868 ENSG00000225192 OTTHUMG00000017978 NR_051997 PGOHUM00000238410 HGNC:44975 HGNC:30957 ZNF33CP zinc finger protein 33C, pseudogene pseudogene pseudogene Approved 10p11.2 10p11.2 BA393J16.4 ZNF33AP1 zinc finger protein 33A pseudogene 1 2010-04-14 2015-10-30 2015-10-30 2021-04-27 79231 ENSG00000235197 OTTHUMG00000017982 NG_002659 HGNC:30957 -HGNC:13098 ZNF34 zinc finger protein 34 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KOX32 zinc finger protein 34 (KOX 32) Zinc fingers C2H2-type 28 1990-06-13 2006-05-11 2023-01-20 80778 ENSG00000196378 OTTHUMG00000165248 uc003zdy.6 BC028136 NM_030580 "CCDS69562|CCDS47945" Q8IZ26 "8104631|2014798" RGD:2319680 194526 HGNC:13098 "ENST00000429371.7|NM_001286769.2" +HGNC:13098 ZNF34 zinc finger protein 34 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KOX32 zinc finger protein 34 (KOX 32) Zinc fingers C2H2-type 28 1990-06-13 2006-05-11 2023-01-20 80778 ENSG00000196378 OTTHUMG00000165248 uc003zdy.6 BC028136 NM_030580 "CCDS47945|CCDS69562" Q8IZ26 "8104631|2014798" RGD:2319680 194526 HGNC:13098 "ENST00000429371.7|NM_001286769.2" HGNC:13099 ZNF35 zinc finger protein 35 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "HF.10|HF10|Zfp105" zinc finger protein 35 (clone HF.10) Zinc fingers C2H2-type 28 1990-06-11 2006-05-11 2023-01-20 7584 ENSG00000169981 OTTHUMG00000133091 uc003cnq.4 X07289 NM_003420 CCDS2718 P13682 "2108922|1572646" MGI:1277119 RGD:1309905 194533 HGNC:13099 "ENST00000396056.7|NM_003420.4" HGNC:13102 ZNF37A zinc finger protein 37A protein-coding gene gene with protein product Approved 10p11.1 10p11.1 "KOX21|ZNF37" zinc finger protein 37a (KOX 21) Zinc fingers C2H2-type 28 1990-09-30 2006-05-11 2023-01-20 7587 ENSG00000075407 OTTHUMG00000191777 uc001izl.4 X69115 NM_003421 "CCDS81451|CCDS31183" P17032 "2014798|8464732" RGD:40977068 616085 HGNC:13102 "ENST00000685332.1|NM_001324250.3" HGNC:13102 HGNC:13103 ZNF37BP zinc finger protein 37B, pseudogene pseudogene pseudogene Approved 10q11.21 10q11.21 "KOX21|FLJ23327" ZNF37B "zinc finger protein 37b (KOX 21)|zinc finger protein 37B|zinc finger protein 37B (pseudogene)" Zinc fingers C2H2-type 28 1991-09-13 2010-08-03 2010-08-03 2021-04-27 100129482 ENSG00000234420 OTTHUMG00000018011 AK026980 NR_026777 "2014798|8464732" HGNC:13103 HGNC:29445 ZNF37CP zinc finger protein 37C, pseudogene pseudogene pseudogene Approved 10p11.21 10p11.21 ZNF37C zinc finger protein 37C (pseudogene) Zinc fingers C2H2-type 28 2009-06-12 2015-05-20 2012-09-17 2021-04-27 79232 ENSG00000151963 OTTHUMG00000017981 NG_002660 PGOHUM00000290104 HGNC:29445 HGNC:13107 ZNF41 zinc finger protein 41 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "MGC8941|MRX89" Zinc fingers C2H2-type 28 1990-10-23 2023-01-20 7592 ENSG00000147124 OTTHUMG00000021448 uc004dhy.5 X60155 NM_153380 CCDS14279 P51814 2037297 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF41 314995 159118 HGNC:13107 "ENST00000684689.1|NM_001324144.2" HGNC:13107 -HGNC:13109 ZNF43 zinc finger protein 43 protein-coding gene gene with protein product Approved 19p12 19p12 "HTF6|KOX27" ZNF39L1 "zinc finger protein 39-like 1 (KOX 27)|zinc finger protein 43 (HTF6)" Zinc fingers C2H2-type 28 1991-02-04 2006-05-11 2023-01-20 7594 ENSG00000198521 OTTHUMG00000128543 uc002nqj.5 X59244 NM_003423 "CCDS74321|CCDS12413|CCDS59367" P17038 1711675 MGI:3040691 RGD:1559684 603972 HGNC:13109 "ENST00000354959.9|NM_003423.4" -HGNC:13110 ZNF44 zinc finger protein 44 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "KOX7|ZNF504" "ZNF58|ZNF55" "zinc finger protein 58|zinc finger protein 44 (KOX 7)|zinc finger protein 55" Zinc fingers C2H2-type 28 1991-06-06 2006-05-11 2023-01-20 51710 ENSG00000197857 OTTHUMG00000156424 uc010dys.4 X52338 NM_016264 "CCDS54223|CCDS45988" P15621 "1946370|1505991" 194542 HGNC:13110 "ENST00000355684.6|NM_016264.4" +HGNC:13109 ZNF43 zinc finger protein 43 protein-coding gene gene with protein product Approved 19p12 19p12 "HTF6|KOX27" ZNF39L1 "zinc finger protein 39-like 1 (KOX 27)|zinc finger protein 43 (HTF6)" Zinc fingers C2H2-type 28 1991-02-04 2006-05-11 2023-01-20 7594 ENSG00000198521 OTTHUMG00000128543 uc002nqj.5 X59244 NM_003423 "CCDS74321|CCDS59367|CCDS12413" P17038 1711675 MGI:3040691 RGD:1559684 603972 HGNC:13109 "ENST00000354959.9|NM_003423.4" +HGNC:13110 ZNF44 zinc finger protein 44 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "KOX7|ZNF504" "ZNF58|ZNF55" "zinc finger protein 58|zinc finger protein 44 (KOX 7)|zinc finger protein 55" Zinc fingers C2H2-type 28 1991-06-06 2006-05-11 2023-01-20 51710 ENSG00000197857 OTTHUMG00000156424 uc010dys.4 X52338 NM_016264 "CCDS45988|CCDS54223" P15621 "1946370|1505991" 194542 HGNC:13110 "ENST00000355684.6|NM_016264.4" HGNC:13111 ZNF45 zinc finger protein 45 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 ZNF13 "zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)|zinc finger protein 13" Zinc fingers C2H2-type 28 1991-06-06 2005-01-11 2023-01-20 7596 ENSG00000124459 OTTHUMG00000182189 uc002oxw.3 M67509 NM_003425 CCDS12632 Q02386 9067431 MGI:107610 RGD:1560430 194554 HGNC:13111 "ENST00000269973.10|NM_003425.4" HGNC:55308 ZNF45-AS1 ZNF45 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.31 19q13.31 Antisense RNAs 1987 2020-10-16 2020-11-11 118827818 ENSG00000267191 NR_184050 HGNC:13114 ZNF48 zinc finger protein 48 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "DKFZp762K013|FLJ31751|MGC43952" ZNF553 zinc finger protein 553 Zinc fingers C2H2-type 28 1991-10-07 2023-01-20 197407 ENSG00000180035 OTTHUMG00000048195 uc021tgi.2 "M88358|AK056313" NM_152652 "CCDS73868|CCDS10679" Q96MX3 1505991 MGI:2384725 RGD:9115869 HGNC:13114 "ENST00000613509.2|NM_001214909.2" HGNC:13124 ZNF56P zinc finger protein 56, pseudogene pseudogene pseudogene Approved 19p13.1 19p13.1 "ZNF742|ZNF56" "zinc finger protein 742|zinc finger protein 56" Zinc fingers C2H2-type 28 1991-10-07 2021-03-08 2021-03-08 2021-04-27 7608 ENSG00000267419 M88366 NR_171023 1505991 MGI:99205 PGOHUM00000261271 HGNC:13124 -HGNC:13125 ZNF57 zinc finger protein 57 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ZNF424 zinc finger protein 424 Zinc fingers C2H2-type 28 1991-10-07 2023-01-20 126295 ENSG00000171970 OTTHUMG00000164485 uc002lwr.3 M88368 NM_173480 "CCDS12098|CCDS82274" Q68EA5 1505991 HGNC:13125 "ENST00000306908.10|NM_173480.3" +HGNC:13125 ZNF57 zinc finger protein 57 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ZNF424 zinc finger protein 424 Zinc fingers C2H2-type 28 1991-10-07 2023-01-20 126295 ENSG00000171970 OTTHUMG00000164485 uc002lwr.3 M88368 NM_173480 "CCDS82274|CCDS12098" Q68EA5 1505991 HGNC:13125 "ENST00000306908.10|NM_173480.3" HGNC:13135 ZNF66 zinc finger protein 66 protein-coding gene gene with protein product Approved 19p12 19p12 FLJ16537 ZNF66P zinc finger protein 66, pseudogene Zinc fingers C2H2-type 28 1991-10-08 2013-03-06 2013-03-06 2023-01-20 7617 ENSG00000160229 OTTHUMG00000167735 uc060wfa.1 M88375 NM_001355197 CCDS92572 Q6ZN08 1505991 HGNC:13135 "ENST00000344519.10|NM_001355197.2" HGNC:13138 ZNF69 zinc finger protein 69 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Cos5 zinc finger protein 69 (Cos5) Zinc fingers C2H2-type 28 1991-11-28 2006-05-12 2023-01-20 7620 ENSG00000198429 OTTHUMG00000156526 uc060tvz.1 X60076 NM_021915 "CCDS32914|CCDS92521" Q9UC07 1639391 RGD:7547607 194543 HGNC:13138 "ENST00000429654.7|NM_001364730.1" HGNC:13140 ZNF70 zinc finger protein 70 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "Cos17|MGC48959" zinc finger protein 70 (Cos17) Zinc fingers C2H2-type 28 1991-11-28 2006-05-12 2023-01-20 7621 ENSG00000187792 OTTHUMG00000150739 uc002zxs.4 X60077 NM_021916 CCDS13812 Q9UC06 1639391 194544 HGNC:13140 "ENST00000341976.5|NM_021916.4" @@ -42959,11 +42961,11 @@ HGNC:54974 ZNF72AP zinc finger protein 72A, pseudogene pseudogene pseudogene App HGNC:13142 ZNF72BP zinc finger protein 72B, pseudogene pseudogene pseudogene Approved 22q11.1 22q11.1 "ZNF72|ZNF72P" "zinc finger protein 72 (Cos8)|zinc finger protein 72|zinc finger protein 72, pseudogene" 1991-11-28 2022-10-18 2022-10-18 2022-10-18 100533637 ENSG00000184624 OTTHUMG00000140359 NG_028855 194546 HGNC:13142 HGNC:13143 ZNF73P zinc finger protein 73, pseudogene pseudogene pseudogene Approved 22p11.2 22p11.2 "hZNF2|Cos12" "ZNF186|ZNF73" "zinc finger protein 73 (Cos12)|zinc finger protein 73" Zinc fingers C2H2-type 28 1991-11-28 2019-06-28 2019-06-28 2023-03-20 105379427 ENSG00000288262 NG_053100 1639391 194547 PGOHUM00000297577 HGNC:13143 HGNC:13144 ZNF74 zinc finger protein 74 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "Cos52|Zfp520|ZNF520" zinc finger protein 74 (Cos52) Zinc fingers C2H2-type 28 1991-11-28 2006-05-12 2023-01-20 7625 ENSG00000185252 OTTHUMG00000150687 uc010gsm.5 X71623 NM_003426 "CCDS42982|CCDS58794" Q16587 "1639391|10591208" RGD:1310930 194548 HGNC:13144 "ENST00000400451.7|NM_003426.4" -HGNC:13146 ZNF75A zinc finger protein 75A protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ31529 Zinc fingers C2H2-type 28 1997-07-07 2023-03-17 2023-03-17 7627 ENSG00000162086 OTTHUMG00000129356 uc002cut.5 X91826 NM_153028 "CCDS92095|CCDS10501" Q96N20 8661144 601473 HGNC:13146 "ENST00000669516.2|NM_001302109.2" +HGNC:13146 ZNF75A zinc finger protein 75A protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ31529 Zinc fingers C2H2-type 28 1997-07-07 2023-03-17 2023-03-17 7627 ENSG00000162086 OTTHUMG00000129356 uc002cut.5 X91826 NM_153028 "CCDS10501|CCDS92095" Q96N20 8661144 601473 HGNC:13146 "ENST00000669516.2|NM_001302109.2" HGNC:13147 ZNF75BP zinc finger protein 75B, pseudogene pseudogene pseudogene Approved 12q12 12q12 ZNF75B "zinc finger protein 75B|zinc finger protein 75B (pseudogene)" Zinc fingers C2H2-type 28 1997-07-07 2010-08-03 2010-08-03 2021-04-27 7628 ENSG00000258212 OTTHUMG00000169428 X91827 NG_001214 8661144 PGOHUM00000291314 HGNC:13147 HGNC:13148 ZNF75CP zinc finger protein 75C, pseudogene pseudogene pseudogene Approved 11q14.1 11q14.1 ZNF75C "zinc finger protein 75c|zinc finger protein 75C (pseudogene)" Zinc fingers C2H2-type 28 1997-07-07 2010-08-03 2010-08-03 2021-09-29 729944 ENSG00000288393 X91828 NG_016171 Q92670 8661144 PGOHUM00000250413 HGNC:13148 HGNC:13145 ZNF75D zinc finger protein 75D protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "ZKSCAN24|D8C6|ZSCAN28" "ZNF82|ZNF75" zinc finger protein 75 (D8C6) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1992-03-25 2008-06-11 2008-06-11 2023-01-20 7626 ENSG00000186376 OTTHUMG00000022482 uc033evx.2 S43109 NM_007131 "CCDS14648|CCDS55503" P51815 1505955 RGD:1584423 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF75D 314997 HGNC:13145 "ENST00000370766.8|NM_007131.5" -HGNC:13149 ZNF76 zinc finger protein 76 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "Zfp523|ZNF523" D6S229E zinc finger protein 76 (expressed in testis) Zinc fingers C2H2-type 28 1992-03-30 2011-02-25 2023-01-20 7629 ENSG00000065029 OTTHUMG00000014564 uc003oki.2 M91592 NM_003427 "CCDS4801|CCDS75435" P36508 1427894 MGI:2687278 RGD:1306239 194549 HGNC:13149 "ENST00000373953.8|NM_003427.5" +HGNC:13149 ZNF76 zinc finger protein 76 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "Zfp523|ZNF523" D6S229E zinc finger protein 76 (expressed in testis) Zinc fingers C2H2-type 28 1992-03-30 2011-02-25 2023-01-20 7629 ENSG00000065029 OTTHUMG00000014564 uc003oki.2 M91592 NM_003427 "CCDS75435|CCDS4801" P36508 1427894 MGI:2687278 RGD:1306239 194549 HGNC:13149 "ENST00000373953.8|NM_003427.5" HGNC:13150 ZNF77 zinc finger protein 77 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 pT1 zinc finger protein 77 (pT1) Zinc fingers C2H2-type 28 1992-04-07 2006-05-12 2023-01-20 58492 ENSG00000175691 OTTHUMG00000180566 uc002lws.5 X65230 NM_021217 CCDS12099 Q15935 8478004 RGD:6497573 194551 HGNC:13150 "ENST00000314531.5|NM_021217.3" HGNC:13153 ZNF79 zinc finger protein 79 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 pT7 zinc finger protein 79 (pT7) Zinc fingers C2H2-type 28 1992-04-07 2006-05-12 2023-01-20 7633 ENSG00000196152 OTTHUMG00000020703 uc004bqw.5 X65232 NM_007135 "CCDS69664|CCDS75904|CCDS6871" Q15937 8478004 RGD:1312031 194552 471372 HGNC:13153 "ENST00000342483.5|NM_007135.3" HGNC:13155 ZNF80 zinc finger protein 80 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 pT17 zinc finger protein 80 (pT17) Zinc fingers C2H2-type 28 1992-04-07 2006-05-12 2023-01-20 7634 ENSG00000174255 OTTHUMG00000159332 uc062mqj.1 X65233 NM_007136 CCDS2979 P51504 8478004 RGD:7570552 194553 HGNC:13155 "ENST00000482457.4|NM_007136.4" @@ -42976,19 +42978,19 @@ HGNC:13165 ZNF90 zinc finger protein 90 protein-coding gene gene with protein pr HGNC:12888 ZNF90P1 zinc finger protein 90 pseudogene 1 pseudogene pseudogene Approved 3q12.3 03q12.3 "ZNF108|ZNF108P" "zinc finger protein 108 (Y9)|zinc finger protein 108, pseudogene" 1992-04-28 2011-04-07 2011-04-07 2021-04-27 7661 ENSG00000241738 OTTHUMG00000159123 NG_009580 8467795 PGOHUM00000262435 HGNC:12888 HGNC:21687 ZNF90P2 zinc finger protein 90 pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 dJ111M5.3 ZNF463P "zinc finger protein 463 pseudogene|zinc finger protein 463, pseudogene" 2003-11-27 2011-04-07 2011-04-07 2021-04-27 100419606 ENSG00000233366 OTTHUMG00000031240 NG_025795 PGOHUM00000243108 HGNC:21687 HGNC:39882 ZNF90P3 zinc finger protein 90 pseudogene 3 pseudogene pseudogene Approved 7q11.21 07q11.21 2011-04-07 2014-11-18 100873799 ENSG00000233782 OTTHUMG00000156264 NG_032367 HGNC:39882 -HGNC:13166 ZNF91 zinc finger protein 91 protein-coding gene gene with protein product Approved 19p12 19p12 "HPF7|HTF10" zinc finger protein 91 (HPF7, HTF10) Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2023-01-20 7644 ENSG00000167232 OTTHUMG00000183268 uc002nre.4 M61871 NM_003430 "CCDS74322|CCDS42541" Q05481 "2023909|2505992" "MGI:1914119|MGI:3036250" 603971 HGNC:13166 "ENST00000300619.12|NM_003430.4" -HGNC:13168 ZNF92 zinc finger protein 92 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "HPF12|TF12" zinc finger protein 92 (HTF12) Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2023-01-20 168374 ENSG00000146757 OTTHUMG00000156557 uc003ttz.5 M61872 NM_152626 "CCDS47596|CCDS34646|CCDS75608|CCDS75609" Q03936 8467795 603974 HGNC:13168 "ENST00000328747.12|NM_152626.4" +HGNC:13166 ZNF91 zinc finger protein 91 protein-coding gene gene with protein product Approved 19p12 19p12 "HPF7|HTF10" zinc finger protein 91 (HPF7, HTF10) Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2023-01-20 7644 ENSG00000167232 OTTHUMG00000183268 uc002nre.4 M61871 NM_003430 "CCDS42541|CCDS74322" Q05481 "2023909|2505992" "MGI:1914119|MGI:3036250" 603971 HGNC:13166 "ENST00000300619.12|NM_003430.4" +HGNC:13168 ZNF92 zinc finger protein 92 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "HPF12|TF12" zinc finger protein 92 (HTF12) Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2023-01-20 168374 ENSG00000146757 OTTHUMG00000156557 uc003ttz.5 M61872 NM_152626 "CCDS47596|CCDS75608|CCDS75609|CCDS34646" Q03936 8467795 603974 HGNC:13168 "ENST00000328747.12|NM_152626.4" HGNC:39553 ZNF92P1Y zinc finger protein 92 pseudogene 1, Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 2011-02-25 2021-04-27 100419554 ENSG00000215603 OTTHUMG00000041017 NG_024760 PGOHUM00000233685 HGNC:39553 HGNC:39554 ZNF92P2 zinc finger protein 92 pseudogene 2 pseudogene pseudogene Approved 19p12 19p12 2011-02-25 2021-04-27 100419705 ENSG00000269505 OTTHUMG00000182929 NG_024170 PGOHUM00000294945 HGNC:39554 HGNC:13169 ZNF93 zinc finger protein 93 protein-coding gene gene with protein product Approved 19p12 19p12 "HPF34|TF34|FLJ12488" ZNF505 "zinc finger protein 505|zinc finger protein 93 (HTF34)" Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2023-01-20 81931 ENSG00000184635 OTTHUMG00000182371 uc002non.4 M61873 NM_031218 CCDS32973 P35789 "8467795|2023909" "MGI:1920860|MGI:1924450|MGI:2652824|MGI:2664334|MGI:3036263|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" 603975 HGNC:13169 "ENST00000343769.6|NM_031218.4" HGNC:13174 ZNF98 zinc finger protein 98 protein-coding gene gene with protein product Approved 19p12 19p12 "ZNF739|F7175" zinc finger protein 739 Zinc fingers C2H2-type 28 1992-04-28 2008-06-12 2010-04-20 2023-01-20 148198 ENSG00000197360 OTTHUMG00000182940 uc002nqt.3 NM_001098626 CCDS46031 A6NK75 RGD:7718701 603980 HGNC:13174 "ENST00000357774.9|NM_001098626.2" HGNC:13175 ZNF99 zinc finger protein 99 protein-coding gene gene with protein product Approved 19p12 19p12 MGC24986 C19orf9 "zinc finger protein 99 (F8281)|chromosome 19 open reading frame 9" Zinc fingers C2H2-type 28 1992-04-28 2006-01-17 2023-01-20 7652 ENSG00000213973 OTTHUMG00000182992 uc060wjg.1 BC021822 NM_001080409 CCDS59369 A8MXY4 MGI:3036250 603981 HGNC:13175 "ENST00000596209.4|NM_001080409.3" HGNC:12880 ZNF100 zinc finger protein 100 protein-coding gene gene with protein product Approved 19p13.1 19p13.1 zinc finger protein 100 (Y1) Zinc fingers C2H2-type 28 1992-04-28 2003-12-19 2023-01-20 163227 ENSG00000197020 OTTHUMG00000182872 uc002nqi.4 BC035579 NM_173531 CCDS42538 Q8IYN0 12477932 603982 HGNC:12880 "ENST00000358296.11|NM_173531.4" -HGNC:12881 ZNF101 zinc finger protein 101 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "HZF12|DKFZp570I0164" zinc finger protein 101 (Y2) Zinc fingers C2H2-type 28 1992-04-28 2004-02-10 2023-01-20 94039 ENSG00000181896 OTTHUMG00000167736 uc060wcj.1 AK097169 NM_033204 "CCDS77271|CCDS32971" Q8IZC7 11441184 603983 HGNC:12881 "ENST00000592502.2|NM_033204.4" +HGNC:12881 ZNF101 zinc finger protein 101 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "HZF12|DKFZp570I0164" zinc finger protein 101 (Y2) Zinc fingers C2H2-type 28 1992-04-28 2004-02-10 2023-01-20 94039 ENSG00000181896 OTTHUMG00000167736 uc060wcj.1 AK097169 NM_033204 "CCDS32971|CCDS77271" Q8IZC7 11441184 603983 HGNC:12881 "ENST00000592502.2|NM_033204.4" HGNC:44940 ZNF101P1 zinc finger protein 101 pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 2012-12-19 2021-04-27 100419867 ENSG00000237746 OTTHUMG00000017869 NG_025421 PGOHUM00000238382 HGNC:44940 HGNC:44942 ZNF101P2 zinc finger protein 101 pseudogene 2 pseudogene pseudogene Approved 1q31.2 01q31.2 2012-12-19 2012-12-19 730190 ENSG00000234473 OTTHUMG00000035560 NG_022749 PGOHUM00000244381 HGNC:44942 -HGNC:12886 ZNF106 zinc finger protein 106 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "ZNF474|SH3BP3" SH3-domain binding protein 3 ZFP106 zinc finger protein 106 homolog (mouse) "Zinc fingers C2H2-type|WD repeat domain containing" "28|362" 1992-04-28 2012-11-27 2023-01-20 64397 ENSG00000103994 OTTHUMG00000173244 uc001zpw.5 AF205632 NM_022473 "CCDS91986|CCDS61603|CCDS61602|CCDS32208" Q9H2Y7 MGI:1270153 RGD:1593644 HGNC:12886 "ENST00000564754.7|NM_001366845.3" -HGNC:12887 ZNF107 zinc finger protein 107 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "ZFD25|smap-7" ZNF588 "zinc finger protein 588|zinc finger protein 107 (Y8)" "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 1992-04-28 2007-06-26 2023-01-20 51427 ENSG00000196247 OTTHUMG00000129433 uc032zog.1 AB027251 NM_016220 "CCDS75606|CCDS5527|CCDS75605" Q9UII5 8467795 MGI:3036250 603989 HGNC:12887 "ENST00000620827.6|NM_001282359.2" +HGNC:12886 ZNF106 zinc finger protein 106 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "ZNF474|SH3BP3" SH3-domain binding protein 3 ZFP106 zinc finger protein 106 homolog (mouse) "Zinc fingers C2H2-type|WD repeat domain containing" "28|362" 1992-04-28 2012-11-27 2023-01-20 64397 ENSG00000103994 OTTHUMG00000173244 uc001zpw.5 AF205632 NM_022473 "CCDS61602|CCDS91986|CCDS61603|CCDS32208" Q9H2Y7 MGI:1270153 RGD:1593644 HGNC:12886 "ENST00000564754.7|NM_001366845.3" +HGNC:12887 ZNF107 zinc finger protein 107 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "ZFD25|smap-7" ZNF588 "zinc finger protein 588|zinc finger protein 107 (Y8)" "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 1992-04-28 2007-06-26 2023-01-20 51427 ENSG00000196247 OTTHUMG00000129433 uc032zog.1 AB027251 NM_016220 "CCDS5527|CCDS75606|CCDS75605" Q9UII5 8467795 MGI:3036250 603989 HGNC:12887 "ENST00000620827.6|NM_001282359.2" HGNC:12892 ZNF112 zinc finger protein 112 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "ZFP112|ZNF228" "zinc finger protein 112 homolog (mouse)|zinc finger protein 228" Zinc fingers C2H2-type 28 1992-04-28 2012-11-27 2023-01-20 7771 ENSG00000062370 OTTHUMG00000182357 uc002ozc.5 AF198358 NM_013380 "CCDS54276|CCDS12637" Q9UJU3 MGI:1929115 RGD:1305757 603994 HGNC:12892 "ENST00000354340.9|NM_013380.4" HGNC:12892 HGNC:12894 ZNF114 zinc finger protein 114 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 MGC17986 Zinc fingers C2H2-type 28 1992-04-28 2023-03-15 163071 ENSG00000178150 OTTHUMG00000183191 uc002pil.2 BC014935 NM_153608 CCDS12713 Q8NC26 603996 HGNC:12894 "ENST00000595607.6|NM_153608.4" HGNC:53930 ZNF114-AS1 ZNF114 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 AC008392.1 Antisense RNAs 1987 2018-06-13 2023-01-09 105372429 ENSG00000268186 OTTHUMG00000183195 XR_936008 29881308 HGNC:53930 @@ -42996,38 +42998,38 @@ HGNC:23771 ZNF114P1 zinc finger protein 114 pseudogene 1 pseudogene pseudogene A HGNC:12897 ZNF117 zinc finger protein 117 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "HPF9|H-plk" zinc finger protein 117 (HPF9) Zinc fingers C2H2-type 28 1992-05-19 2006-06-12 2023-03-15 51351 ENSG00000152926 OTTHUMG00000156631 uc003ttr.3 M27879 NM_024498 Q03924 1427907 "MGI:1919389|MGI:1924053|MGI:2385298|MGI:2675306|MGI:3642994|MGI:3644409|MGI:3644476|MGI:3652325|MGI:3809656" 194624 HGNC:12897 HGNC:12904 ZNF121 zinc finger protein 121 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "ZHC32|ZNF20" D19S204 zinc finger protein 121 (clone ZHC32) Zinc fingers C2H2-type 28 1992-08-24 2006-08-22 2023-01-20 7675 ENSG00000197961 OTTHUMG00000180134 uc010dwt.3 M99593 NM_001008727 "CCDS77228|CCDS32902" P58317 8468057 RGD:2323078 194628 HGNC:12904 "ENST00000320451.7|NM_001008727.5" HGNC:12906 ZNF123P zinc finger protein 123, pseudogene pseudogene pseudogene Approved 11q24.3 11q24.3 HZF-1 ZNF123 "zinc finger protein 123 (HZF-1)|zinc finger protein 123|zinc finger protein 123 pseudogene|zinc finger protein 123 (pseudogene)" 1992-09-24 2008-06-13 2010-08-03 2021-04-27 100188891 ENSG00000255259 OTTHUMG00000165775 S52506 NG_008436 1339395 194630 PGOHUM00000242536 HGNC:12906 -HGNC:12907 ZNF124 zinc finger protein 124 protein-coding gene gene with protein product Approved 1q44 01q44 "HZF16|HZF-16" zinc finger protein 124 (HZF-16) Zinc fingers C2H2-type 28 1992-09-24 2006-06-13 2023-01-20 7678 ENSG00000196418 OTTHUMG00000041112 uc001ick.4 S54641 NM_003431 "CCDS58067|CCDS73057|CCDS76278|CCDS31089" Q15973 7916577 "MGI:107547|MGI:1890752|MGI:2384299|MGI:2441928|MGI:3652185|MGI:5142006" 194631 HGNC:12907 "ENST00000543802.3|NM_001297568.2" +HGNC:12907 ZNF124 zinc finger protein 124 protein-coding gene gene with protein product Approved 1q44 01q44 "HZF16|HZF-16" zinc finger protein 124 (HZF-16) Zinc fingers C2H2-type 28 1992-09-24 2006-06-13 2023-01-20 7678 ENSG00000196418 OTTHUMG00000041112 uc001ick.4 S54641 NM_003431 "CCDS76278|CCDS31089|CCDS73057|CCDS58067" Q15973 7916577 "MGI:107547|MGI:1890752|MGI:2384299|MGI:2441928|MGI:3652185|MGI:5142006" 194631 HGNC:12907 "ENST00000543802.3|NM_001297568.2" HGNC:12915 ZNF131 zinc finger protein 131 protein-coding gene gene with protein product Approved 5p12 05p12 "ZBTB35|pHZ-10" zinc finger and BTB domain containing 35 zinc finger protein 131 (clone pHZ-10) "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1993-02-11 2006-06-13 2023-01-20 7690 ENSG00000172262 OTTHUMG00000162223 uc063dij.1 U09410 NM_003432 "CCDS78005|CCDS43313" P52739 MGI:1919715 RGD:1307638 604073 HGNC:12915 "ENST00000682664.1|NM_001330707.2" HGNC:12916 ZNF132 zinc finger protein 132 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 pHZ-12 zinc finger protein 132 (clone pHZ-12) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2023-01-20 7691 ENSG00000131849 OTTHUMG00000183537 uc002qst.4 U09411 NM_003433 CCDS12980 P52740 7557990 604074 HGNC:12916 "ENST00000254166.4|NM_003433.4" -HGNC:55273 ZNF132-DT ZNF132 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Divergent transcripts 1990 2020-10-02 2020-10-02 118827803 ENSG00000269473 -HGNC:12917 ZNF133 zinc finger protein 133 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "pHZ-13|pHZ-66" ZNF150 "zinc finger protein 150 (pHZ-66)|zinc finger protein 133 (clone pHZ-13)" Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2023-03-15 7692 ENSG00000125846 OTTHUMG00000031965 uc032pck.2 AK123005 NM_003434 "CCDS13134|CCDS74703|CCDS63233|CCDS63234" P52736 "7557990|7649249" RGD:1566283 604075 HGNC:12917 "ENST00000425686.3|NM_001352452.2" +HGNC:55273 ZNF132-DT ZNF132 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Divergent transcripts 1990 2020-10-02 2020-10-02 118827803 ENSG00000269473 NR_186311 +HGNC:12917 ZNF133 zinc finger protein 133 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "pHZ-13|pHZ-66" ZNF150 "zinc finger protein 150 (pHZ-66)|zinc finger protein 133 (clone pHZ-13)" Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2023-03-15 7692 ENSG00000125846 OTTHUMG00000031965 uc032pck.2 AK123005 NM_003434 "CCDS13134|CCDS63233|CCDS63234|CCDS74703" P52736 "7557990|7649249" RGD:1566283 604075 HGNC:12917 "ENST00000425686.3|NM_001352452.2" HGNC:40618 ZNF133-AS1 ZNF133 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 Antisense RNAs 1987 2020-04-16 2020-04-16 105372550 ENSG00000237259 OTTHUMG00000031966 XR_007067543 HGNC:12918 ZNF134 zinc finger protein 134 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 pHZ-15 zinc finger protein 134 (clone pHZ-15) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2023-01-20 7693 ENSG00000213762 OTTHUMG00000183471 uc002qpn.3 U09412 NM_003435 CCDS42638 P52741 7557990 604076 HGNC:12918 "ENST00000396161.10|NM_003435.5" -HGNC:12919 ZNF135 zinc finger protein 135 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 pHZ-17 "ZNF61|ZNF78L1" "zinc finger protein 61|zinc finger protein 135 (clone pHZ-17)" Zinc fingers C2H2-type 28 1993-02-11 2006-05-12 2023-01-20 7694 ENSG00000176293 OTTHUMG00000160719 uc002qrd.3 U09413 NM_003436 "CCDS12970|CCDS74472|CCDS54329|CCDS74471|CCDS54330" P52742 "7557990|1505991" 604077 HGNC:12919 "ENST00000313434.10|NM_001289401.2" +HGNC:12919 ZNF135 zinc finger protein 135 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 pHZ-17 "ZNF61|ZNF78L1" "zinc finger protein 61|zinc finger protein 135 (clone pHZ-17)" Zinc fingers C2H2-type 28 1993-02-11 2006-05-12 2023-01-20 7694 ENSG00000176293 OTTHUMG00000160719 uc002qrd.3 U09413 NM_003436 "CCDS74471|CCDS74472|CCDS54330|CCDS12970|CCDS54329" P52742 "7557990|1505991" 604077 HGNC:12919 "ENST00000313434.10|NM_001289401.2" HGNC:12920 ZNF136 zinc finger protein 136 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 pHZ-20 zinc finger protein 136 (clone pHZ-20) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2023-01-20 7695 ENSG00000196646 OTTHUMG00000156429 uc002mti.4 U09367 NM_003437 "CCDS92526|CCDS32916" P52737 7557990 MGI:2681848 RGD:7531244 604078 HGNC:12920 "ENST00000343979.6|NM_003437.5" HGNC:12921 ZNF137P zinc finger protein 137, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 pHZ-30 ZNF137 "zinc finger protein 137 (clone pHZ-30)|zinc finger protein 137|zinc finger protein 137 (pseudogene)" 1993-02-11 2010-08-03 2010-08-03 2023-03-15 7696 ENSG00000123870 OTTHUMG00000154335 U09414 NR_023311 P52743 7557990 604079 HGNC:12921 -HGNC:12922 ZNF138 zinc finger protein 138 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 pHZ-32 zinc finger protein 138 (clone pHZ-32) Zinc fingers C2H2-type 28 1993-02-11 2005-07-11 2023-01-20 7697 ENSG00000197008 OTTHUMG00000156603 uc003ttg.5 U09847 NM_006524 "CCDS34645|CCDS75607|CCDS64661|CCDS55115|CCDS64659|CCDS64660" P52744 604080 HGNC:12922 "ENST00000307355.12|NM_001271639.2" -HGNC:12925 ZNF140 zinc finger protein 140 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 pHZ-39 zinc finger protein 140 (clone pHZ-39) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2023-01-20 7699 ENSG00000196387 OTTHUMG00000167942 uc001ulo.4 U09368 NM_003440 "CCDS9282|CCDS73550" P52738 7557990 604082 HGNC:12925 "ENST00000355557.7|NM_003440.4" -HGNC:12926 ZNF141 zinc finger protein 141 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 pHZ-44 D4S90 zinc finger protein 141 (clone pHZ-44) "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 1993-02-11 2006-06-13 2023-01-20 7700 ENSG00000131127 OTTHUMG00000159852 uc003gaa.3 L15309 NM_003441 "CCDS33931|CCDS87195" Q15928 8268908 194648 323464 HGNC:12926 "ENST00000240499.8|NM_003441.4" HGNC:12926 -HGNC:12927 ZNF142 zinc finger protein 142 protein-coding gene gene with protein product Approved 2q35 02q35 "KIAA0236|pHZ-49" zinc finger protein 142 (clone pHZ-49) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2023-03-15 7701 ENSG00000115568 OTTHUMG00000154736 uc061smv.1 U09849 NM_005081 "CCDS42817|CCDS92944" P52746 MGI:1924514 RGD:1309648 604083 HGNC:12927 "ENST00000411696.7|NM_001379659.1" HGNC:12927 -HGNC:12928 ZNF143 zinc finger protein 143 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "SBF|pHZ-1|STAF" zinc finger protein 143 (clone pHZ-1) Zinc fingers C2H2-type 28 1993-06-07 2006-06-13 2023-01-20 7702 ENSG00000166478 OTTHUMG00000149922 uc001mhr.3 U09850 NM_003442 "CCDS7799|CCDS60721|CCDS60720" P52747 MGI:1277969 RGD:1305662 603433 HGNC:12928 "ENST00000396602.7|NM_003442.6" +HGNC:12922 ZNF138 zinc finger protein 138 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 pHZ-32 zinc finger protein 138 (clone pHZ-32) Zinc fingers C2H2-type 28 1993-02-11 2005-07-11 2023-01-20 7697 ENSG00000197008 OTTHUMG00000156603 uc003ttg.5 U09847 NM_006524 "CCDS64659|CCDS64660|CCDS34645|CCDS64661|CCDS75607|CCDS55115" P52744 604080 HGNC:12922 "ENST00000307355.12|NM_001271639.2" +HGNC:12925 ZNF140 zinc finger protein 140 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 pHZ-39 zinc finger protein 140 (clone pHZ-39) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2023-01-20 7699 ENSG00000196387 OTTHUMG00000167942 uc001ulo.4 U09368 NM_003440 "CCDS73550|CCDS9282" P52738 7557990 604082 HGNC:12925 "ENST00000355557.7|NM_003440.4" +HGNC:12926 ZNF141 zinc finger protein 141 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 pHZ-44 D4S90 zinc finger protein 141 (clone pHZ-44) "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 1993-02-11 2006-06-13 2023-01-20 7700 ENSG00000131127 OTTHUMG00000159852 uc003gaa.3 L15309 NM_003441 "CCDS87195|CCDS33931" Q15928 8268908 194648 323464 HGNC:12926 "ENST00000240499.8|NM_003441.4" HGNC:12926 +HGNC:12927 ZNF142 zinc finger protein 142 protein-coding gene gene with protein product Approved 2q35 02q35 "KIAA0236|pHZ-49" zinc finger protein 142 (clone pHZ-49) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2023-03-15 7701 ENSG00000115568 OTTHUMG00000154736 uc061smv.1 U09849 NM_005081 "CCDS92944|CCDS42817" P52746 MGI:1924514 RGD:1309648 604083 HGNC:12927 "ENST00000411696.7|NM_001379659.1" HGNC:12927 +HGNC:12928 ZNF143 zinc finger protein 143 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "SBF|pHZ-1|STAF" zinc finger protein 143 (clone pHZ-1) Zinc fingers C2H2-type 28 1993-06-07 2006-06-13 2023-01-20 7702 ENSG00000166478 OTTHUMG00000149922 uc001mhr.3 U09850 NM_003442 "CCDS60720|CCDS60721|CCDS7799" P52747 MGI:1277969 RGD:1305662 603433 HGNC:12928 "ENST00000396602.7|NM_003442.6" HGNC:12931 ZNF146 zinc finger protein 146 protein-coding gene gene with protein product Approved 19q13.1 19q13.1 OZF Zinc fingers C2H2-type 28 1993-11-01 2023-01-20 7705 ENSG00000167635 OTTHUMG00000180511 uc010eeu.4 X70394 NM_007145 CCDS12492 Q15072 "10449921|8641144" MGI:1347092 RGD:7630088 601505 HGNC:12931 "ENST00000443387.3|NM_007145.3" HGNC:12933 ZNF148 zinc finger protein 148 protein-coding gene gene with protein product Approved 3q21.2 03q21.2 "BERF-1|ZBP-89|BFCOL1|HT-BETA|ZFP148|pHZ-52" zinc finger protein 148 (pHZ-52) Zinc fingers C2H2-type 28 1994-03-16 2006-06-13 2023-01-20 7707 ENSG00000163848 OTTHUMG00000159448 uc003ehx.5 U09851 NM_021964 CCDS3031 Q9UQR1 "7557990|9925940" MGI:1332234 RGD:62063 601897 HGNC:12933 "ENST00000360647.9|NM_021964.3" HGNC:12933 HGNC:12939 ZNF154 zinc finger protein 154 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 pHZ-92 zinc finger protein 154 (pHZ-92) Zinc fingers C2H2-type 28 1994-03-16 2006-08-22 2023-03-15 7710 ENSG00000179909 OTTHUMG00000140375 uc061dmm.1 U20648 NM_001085384 CCDS42639 Q13106 7557990 604085 HGNC:12939 "ENST00000684351.1|NM_001085384.3" HGNC:12940 ZNF155 zinc finger protein 155 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 pHZ-96 zinc finger protein 155 (pHZ-96) Zinc fingers C2H2-type 28 1994-03-16 2006-08-22 2023-01-20 7711 ENSG00000204920 OTTHUMG00000182215 uc031rlg.1 U09852 NM_003445 "CCDS58668|CCDS12634" Q12901 7557990 604086 HGNC:12940 "ENST00000270014.7|NM_198089.3" HGNC:12942 ZNF157 zinc finger protein 157 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 HZF22 zinc finger protein 157 (HZF22) "Zinc fingers C2H2-type|Small nucleolar RNA protein coding host genes" "28|1835" 1994-04-14 2006-08-22 2023-01-20 7712 ENSG00000147117 OTTHUMG00000021443 uc004dhr.2 U28687 NM_003446 CCDS14278 P51786 8586441 MGI:3652251 RGD:1359435 300024 HGNC:12942 "ENST00000377073.4|NM_003446.4" -HGNC:12948 ZNF160 zinc finger protein 160 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "HZF5|F11|KR18|HKr18|FLJ00032|KIAA1611" Zinc fingers C2H2-type 28 1994-07-04 2023-01-20 90338 ENSG00000170949 OTTHUMG00000182854 uc010eqk.3 X78928 NM_033288 "CCDS82391|CCDS82392|CCDS12859" Q9HCG1 "7774943|7865130" MGI:108187 600398 HGNC:12948 "ENST00000683776.1|NM_001322131.2" +HGNC:12948 ZNF160 zinc finger protein 160 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "HZF5|F11|KR18|HKr18|FLJ00032|KIAA1611" Zinc fingers C2H2-type 28 1994-07-04 2023-01-20 90338 ENSG00000170949 OTTHUMG00000182854 uc010eqk.3 X78928 NM_033288 "CCDS82392|CCDS12859|CCDS82391" Q9HCG1 "7774943|7865130" MGI:108187 600398 HGNC:12948 "ENST00000683776.1|NM_001322131.2" HGNC:12953 ZNF165 zinc finger protein 165 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZSCAN7|CT53" cancer/testis antigen 53 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1995-02-17 2023-01-20 7718 ENSG00000197279 OTTHUMG00000014505 uc021yro.2 U78722 NM_003447 CCDS4643 P49910 7490084 600834 HGNC:12953 "ENST00000683778.1|NM_001376491.1" HGNC:12957 ZNF169 zinc finger protein 169 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 MGC51961 Zinc fingers C2H2-type 28 1995-04-24 2023-01-20 169841 ENSG00000175787 OTTHUMG00000020264 uc004aum.2 U28322 NM_194320 CCDS6709 Q14929 "9186526|9071574" MGI:1915161 RGD:1304631 603404 HGNC:12957 "ENST00000395395.7|NM_194320.4" -HGNC:12963 ZNF174 zinc finger protein 174 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 ZSCAN8 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1995-07-11 2023-01-20 7727 ENSG00000103343 OTTHUMG00000129358 uc002cvc.5 U31248 NM_003450 "CCDS32380|CCDS10504|CCDS86501" Q15697 MGI:2686600 RGD:7498198 603900 HGNC:12963 "ENST00000268655.5|NM_003450.3" +HGNC:12963 ZNF174 zinc finger protein 174 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 ZSCAN8 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1995-07-11 2023-01-20 7727 ENSG00000103343 OTTHUMG00000129358 uc002cvc.5 U31248 NM_003450 "CCDS32380|CCDS86501|CCDS10504" Q15697 MGI:2686600 RGD:7498198 603900 HGNC:12963 "ENST00000268655.5|NM_003450.3" HGNC:12964 ZNF175 zinc finger protein 175 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 OTK18 Zinc fingers C2H2-type 28 1995-12-12 2023-01-20 7728 ENSG00000105497 OTTHUMG00000167771 uc002pxb.4 D50419 NM_007147 CCDS12837 Q9Y473 8838321 "MGI:1917180|MGI:1921650|MGI:2652821" RGD:7510716 601139 HGNC:12964 "ENST00000262259.7|NM_007147.4" HGNC:12966 ZNF177 zinc finger protein 177 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zinc fingers C2H2-type 28 1995-09-11 2023-03-15 7730 ENSG00000188629 OTTHUMG00000179943 uc002mlk.4 "U37263|BC012012" NM_003451 CCDS54214 Q13360 RGD:7747897 601276 HGNC:12966 "ENST00000683217.1|NM_001172651.2" -HGNC:12970 ZNF180 zinc finger protein 180 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 HHZ168 zinc finger protein 180 (HHZ168) Zinc fingers C2H2-type 28 1995-11-22 2006-08-22 2023-01-20 7733 ENSG00000167384 OTTHUMG00000180495 uc002ozf.6 AF192913 NM_013256 "CCDS62707|CCDS12639|CCDS62708" Q9UJW8 MGI:1923701 RGD:631380 606740 HGNC:12970 "ENST00000592529.6|NM_001278509.3" +HGNC:12970 ZNF180 zinc finger protein 180 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 HHZ168 zinc finger protein 180 (HHZ168) Zinc fingers C2H2-type 28 1995-11-22 2006-08-22 2023-01-20 7733 ENSG00000167384 OTTHUMG00000180495 uc002ozf.6 AF192913 NM_013256 "CCDS62708|CCDS62707|CCDS12639" Q9UJW8 MGI:1923701 RGD:631380 606740 HGNC:12970 "ENST00000592529.6|NM_001278509.3" HGNC:12971 ZNF181 zinc finger protein 181 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "HHZ181|MGC44316" zinc finger protein 181 (HHZ181) Zinc fingers C2H2-type 28 1995-11-22 2006-04-27 2023-01-20 339318 ENSG00000197841 OTTHUMG00000157508 uc002nvu.4 "BC104759|H54888" NM_001029997 "CCDS46043|CCDS32990" Q2M3W8 606741 HGNC:12971 "ENST00000492450.3|NM_001029997.4" HGNC:13001 ZNF182 zinc finger protein 182 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "KOX14|HHZ150|Zfp182" ZNF21 "zinc finger protein 182 (HHZ150)|zinc finger protein 21 (KOX 14)" Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2006-05-10 2023-01-20 7569 ENSG00000147118 OTTHUMG00000021460 uc004dit.4 "AK122874|R98366" NM_006962 "CCDS35235|CCDS35236" P17025 "8088786|2014798|8914609" MGI:2442220 RGD:6490591 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF182 314993 HGNC:13001 "ENST00000376943.8|NM_001007088.2" HGNC:12975 ZNF184 zinc finger protein 184 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 zinc finger protein 184 (Kruppel-like) Zinc fingers C2H2-type 28 1996-11-15 2006-06-28 2023-01-20 7738 ENSG00000096654 OTTHUMG00000014478 uc003nji.4 U66561 NM_007149 CCDS4624 Q99676 MGI:1922244 RGD:1304798 602277 HGNC:12975 "ENST00000683788.1|NM_001318891.2" -HGNC:12976 ZNF185 zinc finger protein 185 with LIM domain protein-coding gene gene with protein product Approved Xq28 Xq28 SCELL sciellin like zinc finger protein 185 (LIM domain) LIM domain containing 1218 1996-12-12 2017-02-28 2023-01-20 7739 ENSG00000147394 OTTHUMG00000024187 uc010ntv.3 AK056517 NM_007150 "CCDS94691|CCDS48184|CCDS55530|CCDS55531|CCDS55529|CCDS69832|CCDS55532|CCDS55528" O15231 9268636 MGI:108095 RGD:1586351 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF185 300381 HGNC:12976 "ENST00000695776.1|NM_001395254.1" -HGNC:12980 ZNF189 zinc finger protein 189 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 Zinc fingers C2H2-type 28 1996-12-12 2023-01-20 7743 ENSG00000136870 OTTHUMG00000020383 uc004bbh.3 AF025770 NM_003452 "CCDS65096|CCDS6755|CCDS6754|CCDS75867" O75820 9653648 MGI:2444707 RGD:1306510 603132 HGNC:12980 "ENST00000339664.7|NM_003452.4" +HGNC:12976 ZNF185 zinc finger protein 185 with LIM domain protein-coding gene gene with protein product Approved Xq28 Xq28 SCELL sciellin like zinc finger protein 185 (LIM domain) LIM domain containing 1218 1996-12-12 2017-02-28 2023-01-20 7739 ENSG00000147394 OTTHUMG00000024187 uc010ntv.3 AK056517 NM_007150 "CCDS94691|CCDS48184|CCDS55528|CCDS55529|CCDS55532|CCDS55530|CCDS69832|CCDS55531" O15231 9268636 MGI:108095 RGD:1586351 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF185 300381 HGNC:12976 "ENST00000695776.1|NM_001395254.1" +HGNC:12980 ZNF189 zinc finger protein 189 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 Zinc fingers C2H2-type 28 1996-12-12 2023-01-20 7743 ENSG00000136870 OTTHUMG00000020383 uc004bbh.3 AF025770 NM_003452 "CCDS6755|CCDS75867|CCDS6754|CCDS65096" O75820 9653648 MGI:2444707 RGD:1306510 603132 HGNC:12980 "ENST00000339664.7|NM_003452.4" HGNC:12986 ZNF195 zinc finger protein 195 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 Zinc fingers C2H2-type 28 1997-07-22 2023-01-20 7748 ENSG00000005801 OTTHUMG00000011694 uc001lxs.4 NM_001130519 O14628 9344677 602187 HGNC:12986 "ENST00000399602.9|NM_001130520.3" HGNC:12988 ZNF197 zinc finger protein 197 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "P18|D3S1363E|ZKSCAN9|ZSCAN41" ZNF166 zinc finger protein 166 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-09-29 2003-10-07 2023-03-15 10168 ENSG00000186448 OTTHUMG00000133089 uc003cnm.4 AF011573 NM_006991 O14709 "9380504|8353497" 618359 HGNC:12988 "ENST00000344387.9|NM_006991.5" HGNC:40620 ZNF197-AS1 ZNF197 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 ZNF197 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2016-11-24 100874094 ENSG00000233509 OTTHUMG00000156308 uc062ivj.1 NR_046658 ZNF197-AS1 HGNC:40620 @@ -43036,7 +43038,7 @@ HGNC:12994 ZNF202 zinc finger protein 202 protein-coding gene gene with protein HGNC:12995 ZNF204P zinc finger protein 204, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "b24o18.1|ZNF184-Lp" "ZNF204|ZNF315P" "zinc finger protein 204|zinc finger protein 204 (pseudogene)|zinc finger protein 315, pseudogene|zinc finger protein 315 pseudogene|zinc finger protein 315 (pseudogene)" 1997-11-20 2009-11-20 2010-08-03 2021-04-27 7754 ENSG00000204789 OTTHUMG00000016415 AF033199 NR_002722 9628832 603282 HGNC:12995 HGNC:12996 ZNF205 zinc finger protein 205 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Zfp13 ZNF210 Zinc fingers C2H2-type 28 1998-01-16 2023-01-20 7755 ENSG00000122386 OTTHUMG00000148676 uc002cua.4 AF060865 NM_003456 CCDS10494 O95201 9787081 MGI:99159 RGD:1304577 603436 HGNC:12996 "ENST00000219091.9|NM_001042428.2" HGNC:28586 ZNF205-AS1 ZNF205 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 MGC3771 Antisense RNAs 1987 2012-11-06 2017-02-17 81854 NR_024166 12477932 HGNC:28586 -HGNC:12998 ZNF207 zinc finger protein 207 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 BuGZ "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 1998-02-09 2023-01-20 7756 ENSG00000010244 OTTHUMG00000132810 uc002hhh.5 AF046001 NM_001032293 "CCDS32614|CCDS42294|CCDS11271" O43670 "9799612|24462186" MGI:1340045 RGD:1308121 603428 HGNC:12998 "ENST00000394670.9|NM_001098507.2" +HGNC:12998 ZNF207 zinc finger protein 207 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 BuGZ "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 1998-02-09 2023-01-20 7756 ENSG00000010244 OTTHUMG00000132810 uc002hhh.5 AF046001 NM_001032293 "CCDS42294|CCDS11271|CCDS32614" O43670 "9799612|24462186" MGI:1340045 RGD:1308121 603428 HGNC:12998 "ENST00000394670.9|NM_001098507.2" HGNC:12999 ZNF208 zinc finger protein 208 protein-coding gene gene with protein product Approved 19p12 19p12 "PMIDP|ZNF95" zinc finger protein 95 Zinc fingers C2H2-type 28 1998-03-10 2023-01-20 7757 ENSG00000160321 OTTHUMG00000182913 uc060wic.1 BC038199 NM_007153 "CCDS86734|CCDS54240" O43345 9724325 "MGI:1917477|MGI:3036250" 603977 HGNC:12999 "ENST00000397126.9|NM_007153.3" HGNC:13000 ZNF209P zinc finger protein 209, pseudogene pseudogene pseudogene Approved 19p12 19p12 ZNF209 zinc finger protein 209 (pseudogene) 1998-03-16 2009-11-20 2010-08-03 2021-04-27 441843 ENSG00000269138 OTTHUMG00000182979 NG_021760 9724325 PGOHUM00000295294 HGNC:13000 HGNC:13003 ZNF211 zinc finger protein 211 protein-coding gene gene with protein product Approved 19q13.4 19q13.4 "ZNF-25|CH2H2-25" Zinc fingers C2H2-type 28 1999-09-29 2023-01-20 10520 ENSG00000121417 OTTHUMG00000168012 uc031rng.2 U38904 NM_001265597 Q13398 "7633419|9096115" 601856 HGNC:13003 "ENST00000240731.5|NM_006385.5" @@ -43044,7 +43046,7 @@ HGNC:13004 ZNF212 zinc finger protein 212 protein-coding gene gene with protein HGNC:13005 ZNF213 zinc finger protein 213 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CR53|ZKSCAN21|ZSCAN53" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1998-03-23 2007-02-20 2007-02-20 2023-01-20 7760 ENSG00000085644 OTTHUMG00000177519 uc059pvx.1 AF017433 NM_004220 CCDS10495 O14771 "9653642|10023065" MGI:3053094 RGD:1305919 608387 HGNC:13005 "ENST00000396878.8|NM_004220.3" HGNC:50505 ZNF213-AS1 ZNF213 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2014-05-13 2014-05-13 2021-03-08 100507458 ENSG00000263072 OTTHUMG00000177518 NR_110900 32718982 HGNC:50505 HGNC:13006 ZNF214 zinc finger protein 214 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Zinc fingers C2H2-type 28 1998-03-23 2023-01-20 7761 ENSG00000149050 OTTHUMG00000165618 uc001mfa.3 AF056617 NM_001354830 CCDS31418 Q9UL59 605015 HGNC:13006 "ENST00000278314.5|NM_013249.4" -HGNC:13007 ZNF215 zinc finger protein 215 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "ZKSCAN11|ZSCAN43" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1998-03-23 2023-01-20 7762 ENSG00000149054 OTTHUMG00000165507 uc001mey.4 AF056618 NM_001354853 "CCDS7775|CCDS86177" Q9UL58 605016 HGNC:13007 "ENST00000278319.10|NM_013250.4" HGNC:13007 +HGNC:13007 ZNF215 zinc finger protein 215 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "ZKSCAN11|ZSCAN43" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1998-03-23 2023-01-20 7762 ENSG00000149054 OTTHUMG00000165507 uc001mey.4 AF056618 NM_001354853 "CCDS86177|CCDS7775" Q9UL58 605016 HGNC:13007 "ENST00000278319.10|NM_013250.4" HGNC:13007 HGNC:13009 ZNF217 zinc finger protein 217 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 ZABC1 Zinc fingers C2H2-type 28 1998-08-13 2023-01-20 7764 ENSG00000171940 OTTHUMG00000032764 uc002xwq.5 AF041259 NM_006526 CCDS13443 O75362 9671742 MGI:2685408 RGD:1308451 602967 HGNC:13009 "ENST00000371471.7|NM_006526.3" HGNC:56842 ZNF217-AS1 ZNF217 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.2 20q13.2 Antisense RNAs 1987 2023-05-17 2023-05-17 2023-05-17 101927770 ENSG00000197670 NR_110051 HGNC:13011 ZNF219 zinc finger protein 219 protein-coding gene gene with protein product Approved 14q11 14q11 Zinc fingers C2H2-type 28 2000-07-31 2023-01-20 51222 ENSG00000165804 OTTHUMG00000029647 uc010aik.2 AB015427 NM_001101672 Q9P2Y4 10819330 MGI:1917140 RGD:1359259 605036 HGNC:13011 "ENST00000360947.8|NM_016423.3" HGNC:13011 @@ -43055,38 +43057,38 @@ HGNC:13016 ZNF223 zinc finger protein 223 protein-coding gene gene with protein HGNC:13017 ZNF224 zinc finger protein 224 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "BMZF-2|KOX22" "ZNF255|ZNF27" "zinc finger protein 255|zinc finger protein 27" Zinc fingers C2H2-type 28 1998-08-13 2004-02-13 2023-01-20 7767 ENSG00000267680 OTTHUMG00000182313 uc002oyh.3 AF187990 NM_013398 CCDS33046 Q9NZL3 194555 HGNC:13017 "ENST00000693561.1|NM_001321645.3" HGNC:13018 ZNF225 zinc finger protein 225 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2023-01-20 7768 ENSG00000256294 OTTHUMG00000182336 uc002oyj.2 AF187991 NM_001321685 CCDS46100 Q9UK10 HGNC:13018 "ENST00000262894.11|NM_013362.4" HGNC:55916 ZNF225-AS1 ZNF225 and ZNF224 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.31 19q13.31 ZNF225 antisense RNA 1 Antisense RNAs 1987 2021-10-11 2021-10-11 2021-10-11 100379224 ENSG00000186019 NR_033341 -HGNC:13019 ZNF226 zinc finger protein 226 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2012-09-11 2012-09-11 2023-01-20 7769 ENSG00000167380 OTTHUMG00000182351 uc002oyp.4 AF024707 NM_001032372 "CCDS46102|CCDS46103" Q9NYT6 "MGI:99663|MGI:1929114" RGD:620595 HGNC:13019 "ENST00000337433.10|NM_001032373.2" -HGNC:13020 ZNF227 zinc finger protein 227 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2023-01-20 7770 ENSG00000131115 OTTHUMG00000182352 uc002oyv.5 AK092253 NM_182490 "CCDS12636|CCDS74388" Q86WZ6 HGNC:13020 "ENST00000313040.12|NM_182490.3" +HGNC:13019 ZNF226 zinc finger protein 226 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2012-09-11 2012-09-11 2023-01-20 7769 ENSG00000167380 OTTHUMG00000182351 uc002oyp.4 AF024707 NM_001032372 "CCDS46103|CCDS46102" Q9NYT6 "MGI:99663|MGI:1929114" RGD:620595 HGNC:13019 "ENST00000337433.10|NM_001032373.2" +HGNC:13020 ZNF227 zinc finger protein 227 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2023-01-20 7770 ENSG00000131115 OTTHUMG00000182352 uc002oyv.5 AK092253 NM_182490 "CCDS74388|CCDS12636" Q86WZ6 HGNC:13020 "ENST00000313040.12|NM_182490.3" HGNC:13022 ZNF229 zinc finger protein 229 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2023-01-20 7772 ENSG00000278318 OTTHUMG00000182377 uc032hzj.2 AF192979 NM_014518 "CCDS62706|CCDS42574" Q9UJW7 HGNC:13022 "ENST00000614049.5|NM_014518.4" HGNC:13022 HGNC:13024 ZNF230 zinc finger protein 230 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FDZF2 Zinc fingers C2H2-type 28 1998-08-13 2023-01-20 7773 ENSG00000159882 OTTHUMG00000182307 uc002oyb.2 U95044 NM_006300 CCDS33044 Q9UIE0 HGNC:13024 "ENST00000429154.7|NM_006300.4" HGNC:55316 ZNF230-DT ZNF230 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.31 19q13.31 Divergent transcripts 1990 2020-10-19 2020-10-19 101928063 ENSG00000266921 NR_110727 -HGNC:13026 ZNF232 zinc finger protein 232 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 ZSCAN11 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1998-08-06 2023-01-20 7775 ENSG00000167840 OTTHUMG00000099450 uc002gat.4 AF080169 NM_014519 "CCDS11068|CCDS92233|CCDS82043" Q9UNY5 11311944 616463 HGNC:13026 "ENST00000250076.8|NM_014519.6" +HGNC:13026 ZNF232 zinc finger protein 232 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 ZSCAN11 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1998-08-06 2023-01-20 7775 ENSG00000167840 OTTHUMG00000099450 uc002gat.4 AF080169 NM_014519 "CCDS82043|CCDS11068|CCDS92233" Q9UNY5 11311944 616463 HGNC:13026 "ENST00000250076.8|NM_014519.6" HGNC:40623 ZNF232-AS1 ZNF232 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Antisense RNAs 1987 2020-04-16 2020-04-16 101928000 ENSG00000234327 OTTHUMG00000132913 NR_135657 -HGNC:30946 ZNF233 zinc finger protein 233 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ38032 Zinc fingers C2H2-type 28 2005-01-07 2023-01-20 353355 ENSG00000159915 OTTHUMG00000182354 uc002oyz.3 AY166792 NM_181756 "CCDS82363|CCDS33047" A6NK53 12743021 RGD:7498933 HGNC:30946 "ENST00000683810.1|NM_001207005.2" +HGNC:30946 ZNF233 zinc finger protein 233 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ38032 Zinc fingers C2H2-type 28 2005-01-07 2023-01-20 353355 ENSG00000159915 OTTHUMG00000182354 uc002oyz.3 AY166792 NM_181756 "CCDS33047|CCDS82363" A6NK53 12743021 RGD:7498933 HGNC:30946 "ENST00000683810.1|NM_001207005.2" HGNC:13027 ZNF234 zinc finger protein 234 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 HZF4 ZNF269 Zinc fingers C2H2-type 28 1999-07-29 2023-01-20 10780 ENSG00000263002 OTTHUMG00000182337 uc002oym.4 X78927 NM_001144824 CCDS46101 Q14588 7865130 "MGI:1920860|MGI:1924450|MGI:2652824|MGI:3036263|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" 604750 HGNC:13027 "ENST00000426739.7|NM_006630.3" -HGNC:12866 ZNF235 zinc finger protein 235 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "HZF6|ANF270" "ZNF270|ZFP93" zinc finger protein homologous to Zfp93 in mouse Zinc fingers C2H2-type 28 1999-07-19 2002-11-08 2002-11-04 2023-01-20 9310 ENSG00000159917 OTTHUMG00000182353 uc002oza.5 X78929 NM_001411071 "CCDS33048|CCDS92638" Q14590 "7865130|9570955" MGI:1929117 604749 HGNC:12866 "ENST00000291182.9|NM_004234.4" -HGNC:13028 ZNF236 zinc finger protein 236 protein-coding gene gene with protein product Approved 18q23 18q23 Zinc fingers C2H2-type 28 1998-08-26 2023-01-20 7776 ENSG00000130856 OTTHUMG00000179331 uc002lmi.4 AF085243 NM_001306089 "CCDS42447|CCDS77201" Q9UL36 10458916 MGI:1926950 RGD:1309670 604760 HGNC:13028 "ENST00000320610.14|NM_001306089.2" +HGNC:12866 ZNF235 zinc finger protein 235 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "HZF6|ANF270" "ZNF270|ZFP93" zinc finger protein homologous to Zfp93 in mouse Zinc fingers C2H2-type 28 1999-07-19 2002-11-08 2002-11-04 2023-01-20 9310 ENSG00000159917 OTTHUMG00000182353 uc002oza.5 X78929 NM_001411071 "CCDS92638|CCDS33048" Q14590 "7865130|9570955" MGI:1929117 604749 HGNC:12866 "ENST00000291182.9|NM_004234.4" +HGNC:13028 ZNF236 zinc finger protein 236 protein-coding gene gene with protein product Approved 18q23 18q23 Zinc fingers C2H2-type 28 1998-08-26 2023-01-20 7776 ENSG00000130856 OTTHUMG00000179331 uc002lmi.4 AF085243 NM_001306089 "CCDS77201|CCDS42447" Q9UL36 10458916 MGI:1926950 RGD:1309670 604760 HGNC:13028 "ENST00000320610.14|NM_001306089.2" HGNC:53779 ZNF236-DT ZNF236 divergent transcript non-coding RNA RNA, long non-coding Approved 18q23 18q23 Divergent transcripts 1990 2017-11-17 2017-11-17 100131655 ENSG00000264278 OTTHUMG00000179330 NR_040024 HGNC:53779 HGNC:13031 ZNF239 zinc finger protein 239 protein-coding gene gene with protein product Approved 10q11.22-q11.23 10q11.22-q11.23 "MOK2|HOK-2" Zinc fingers C2H2-type 28 1998-11-06 2023-01-20 8187 ENSG00000196793 OTTHUMG00000018033 uc009xmk.4 X82125 NM_001099282 Q16600 "8903737|8587123" MGI:1306812 RGD:6502210 601069 HGNC:13031 "ENST00000374446.7|NM_001099282.2" -HGNC:13041 ZNF248 zinc finger protein 248 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 bA162G10.3 Zinc fingers C2H2-type 28 1998-11-30 2023-01-20 57209 ENSG00000198105 OTTHUMG00000017980 uc010qeu.2 AJ491695 NM_021045 "CCDS73087|CCDS58077|CCDS7194|CCDS86083" Q8NDW4 12566394 MGI:1919970 RGD:1561270 HGNC:13041 "ENST00000395867.8|NM_021045.3" +HGNC:13041 ZNF248 zinc finger protein 248 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 bA162G10.3 Zinc fingers C2H2-type 28 1998-11-30 2023-01-20 57209 ENSG00000198105 OTTHUMG00000017980 uc010qeu.2 AJ491695 NM_021045 "CCDS86083|CCDS58077|CCDS73087|CCDS7194" Q8NDW4 12566394 MGI:1919970 RGD:1561270 HGNC:13041 "ENST00000395867.8|NM_021045.3" HGNC:56681 ZNF248-AS1 ZNF248 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 RP11-162G10.5 Antisense RNAs 1987 2023-01-06 2023-01-06 128266837 ENSG00000236514 36576700 -HGNC:13044 ZNF250 zinc finger protein 250 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "MGC9718|ZFP647" ZNF647 zinc finger protein 647 Zinc fingers C2H2-type 28 1998-11-30 2004-11-08 2023-01-20 58500 ENSG00000196150 OTTHUMG00000165252 uc003zeq.4 AK095705 NM_021061 "CCDS55282|CCDS34972" P15622 20346131 MGI:3052806 RGD:1308203 HGNC:13044 "ENST00000417550.7|NM_001109689.4" +HGNC:13044 ZNF250 zinc finger protein 250 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "MGC9718|ZFP647" ZNF647 zinc finger protein 647 Zinc fingers C2H2-type 28 1998-11-30 2004-11-08 2023-01-20 58500 ENSG00000196150 OTTHUMG00000165252 uc003zeq.4 AK095705 NM_021061 "CCDS34972|CCDS55282" P15622 20346131 MGI:3052806 RGD:1308203 HGNC:13044 "ENST00000417550.7|NM_001109689.4" HGNC:13045 ZNF251 zinc finger protein 251 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 Zinc fingers C2H2-type 28 1998-11-30 2023-01-20 90987 ENSG00000198169 OTTHUMG00000165189 uc003zdv.5 AK000435 NM_138367 CCDS47944 Q9BRH9 MGI:1918841 RGD:1311138 HGNC:13045 "ENST00000292562.12|NM_138367.2" HGNC:13046 ZNF252P zinc finger protein 252, pseudogene pseudogene pseudogene Approved 8q24.3 08q24.3 ZNF252 zinc finger protein 252 1998-11-30 2012-04-19 2012-04-19 2021-04-27 286101 ENSG00000196922 OTTHUMG00000165201 BC019922 NR_023392 HGNC:13046 HGNC:27821 ZNF252P-AS1 ZNF252P antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 C8orf77 "chromosome 8 open reading frame 77|ZNF252P antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-10-06 2012-05-01 2012-08-15 2012-10-12 286103 ENSG00000255559 OTTHUMG00000165204 uc003zfb.5 AK092777 NR_026974 Q0IIN9 12477932 ZNF252P-AS1 HGNC:27821 HGNC:13497 ZNF253 zinc finger protein 253 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "BMZF-1|FLJ90391" ZNF411 zinc finger protein 411 Zinc fingers C2H2-type 28 2001-08-23 2003-12-17 2023-01-20 56242 ENSG00000256771 OTTHUMG00000182369 uc002noj.4 AF038951 NM_021047 "CCDS86729|CCDS42532" O75346 10585455 MGI:107769 606954 HGNC:13497 "ENST00000589717.2|NM_021047.3" -HGNC:13047 ZNF254 zinc finger protein 254 protein-coding gene gene with protein product Approved 19p13 19p13 "HD-ZNF1|BMZF-5" "ZNF91L|ZNF539" zinc finger protein 539 Zinc fingers C2H2-type 28 1999-05-28 2023-01-20 9534 ENSG00000213096 OTTHUMG00000183394 uc002nru.5 AF054180 NM_004876 "CCDS62623|CCDS32983|CCDS74323|CCDS62622|CCDS74324" O75437 9653160 "MGI:1920860|MGI:1924450|MGI:2652824|MGI:3036263|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" 604768 HGNC:13047 "ENST00000357002.5|NM_203282.4" +HGNC:13047 ZNF254 zinc finger protein 254 protein-coding gene gene with protein product Approved 19p13 19p13 "HD-ZNF1|BMZF-5" "ZNF91L|ZNF539" zinc finger protein 539 Zinc fingers C2H2-type 28 1999-05-28 2023-01-20 9534 ENSG00000213096 OTTHUMG00000183394 uc002nru.5 AF054180 NM_004876 "CCDS32983|CCDS62622|CCDS74324|CCDS62623|CCDS74323" O75437 9653160 "MGI:1920860|MGI:1924450|MGI:2652824|MGI:3036263|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" 604768 HGNC:13047 "ENST00000357002.5|NM_203282.4" HGNC:13049 ZNF256 zinc finger protein 256 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 BMZF-3 Zinc fingers C2H2-type 28 1999-07-30 2023-01-20 10172 ENSG00000152454 OTTHUMG00000183449 uc002qqu.4 AF067165 NM_001375403 CCDS12966 Q9Y2P7 606956 HGNC:13049 "ENST00000282308.4|NM_005773.3" HGNC:13498 ZNF257 zinc finger protein 257 protein-coding gene gene with protein product Approved 19p12 19p12 BMZF-4 Zinc fingers C2H2-type 28 2001-08-23 2023-01-20 113835 ENSG00000197134 OTTHUMG00000182927 uc010ecx.4 AF070651 NM_001316996 CCDS46030 Q9Y2Q1 10585455 606957 HGNC:13498 "ENST00000594947.6|NM_033468.4" HGNC:13499 ZNF260 zinc finger protein 260 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "ozrf1|Zfp260" Zinc fingers C2H2-type 28 2006-06-30 2023-01-20 339324 ENSG00000254004 OTTHUMG00000048155 uc002oef.3 AK122854 NM_001012756 CCDS33003 Q3ZCT1 MGI:1347071 RGD:621205 613749 HGNC:13499 "ENST00000523638.6|NM_001166037.2" -HGNC:13056 ZNF263 zinc finger protein 263 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FPM315|ZKSCAN12|ZSCAN44" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-06-11 2023-01-20 10127 ENSG00000006194 OTTHUMG00000129323 uc002cuq.4 AC004232 NM_001411015 "CCDS92094|CCDS10499" O14978 9256059 MGI:1921370 RGD:1307301 604191 HGNC:13056 "ENST00000219069.6|NM_005741.5" +HGNC:13056 ZNF263 zinc finger protein 263 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FPM315|ZKSCAN12|ZSCAN44" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-06-11 2023-01-20 10127 ENSG00000006194 OTTHUMG00000129323 uc002cuq.4 AC004232 NM_001411015 "CCDS10499|CCDS92094" O14978 9256059 MGI:1921370 RGD:1307301 604191 HGNC:13056 "ENST00000219069.6|NM_005741.5" HGNC:13057 ZNF264 zinc finger protein 264 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 KIAA0412 Zinc fingers C2H2-type 28 1999-06-11 2023-01-20 9422 ENSG00000083844 OTTHUMG00000183104 uc002qob.3 AB007872 NM_003417 CCDS33127 O43296 9455477 604668 HGNC:13057 "ENST00000263095.10|NM_003417.5" HGNC:13059 ZNF266 zinc finger protein 266 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 HZF1 Zinc fingers C2H2-type 28 1999-07-19 2023-01-20 10781 ENSG00000174652 OTTHUMG00000179945 uc010dwq.5 X78924 NM_001271314 "CCDS12213|CCDS92507" Q14584 7865130 MGI:1924769 604751 HGNC:13059 "ENST00000592904.7|NM_001370374.1" HGNC:13060 ZNF267 zinc finger protein 267 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 HZF2 Zinc fingers C2H2-type 28 1999-07-19 2023-01-20 10308 ENSG00000185947 OTTHUMG00000176535 uc002ecs.6 X78925 NM_003414 CCDS32440 Q14586 7865130 MGI:1098769 RGD:2323100 604752 HGNC:13060 "ENST00000300870.15|NM_003414.6" -HGNC:13061 ZNF268 zinc finger protein 268 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 HZF3 Zinc fingers C2H2-type 28 1999-07-19 2023-01-20 10795 ENSG00000090612 OTTHUMG00000167946 uc010tcf.3 X78926 NM_152943 "CCDS53852|CCDS59240|CCDS53851|CCDS53853|CCDS53854|CCDS59239|CCDS45012" Q14587 7865130 MGI:3651014 604753 HGNC:13061 "ENST00000536435.7|NM_003415.3" +HGNC:13061 ZNF268 zinc finger protein 268 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 HZF3 Zinc fingers C2H2-type 28 1999-07-19 2023-01-20 10795 ENSG00000090612 OTTHUMG00000167946 uc010tcf.3 X78926 NM_152943 "CCDS53854|CCDS59239|CCDS53852|CCDS53851|CCDS59240|CCDS45012|CCDS53853" Q14587 7865130 MGI:3651014 604753 HGNC:13061 "ENST00000536435.7|NM_003415.3" HGNC:13065 ZNF271P zinc finger protein 271, pseudogene pseudogene pseudogene Approved 18q12.2 18q12.2 "HZF7|ZNFEB" ZNF271 zinc finger protein 271 Zinc fingers C2H2-type 28 1999-07-19 2014-10-10 2014-10-10 2023-03-15 10778 ENSG00000257267 OTTHUMG00000132563 X78930 NR_024565 "7865130|11777961" 604754 HGNC:13065 HGNC:13067 ZNF273 zinc finger protein 273 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 HZF9 Zinc fingers C2H2-type 28 1999-07-19 2023-01-20 10793 ENSG00000198039 OTTHUMG00000149837 uc003tto.4 X78932 NM_001385643 CCDS5528 Q14593 7865130 604756 HGNC:13067 "ENST00000476120.2|NM_021148.3" -HGNC:13068 ZNF274 zinc finger protein 274 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZKSCAN19|ZSCAN51" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-07-19 2023-01-20 10782 ENSG00000171606 OTTHUMG00000183456 uc032igq.2 AB029149 NM_133502 "CCDS74476|CCDS74473|CCDS74474|CCDS74475" Q96GC6 10777669 MGI:1890378 RGD:1306339 605467 HGNC:13068 "ENST00000617501.5|NM_133502.3" +HGNC:13068 ZNF274 zinc finger protein 274 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZKSCAN19|ZSCAN51" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-07-19 2023-01-20 10782 ENSG00000171606 OTTHUMG00000183456 uc032igq.2 AB029149 NM_133502 "CCDS74475|CCDS74474|CCDS74473|CCDS74476" Q96GC6 10777669 MGI:1890378 RGD:1306339 605467 HGNC:13068 "ENST00000617501.5|NM_133502.3" HGNC:13069 ZNF275 zinc finger protein 275 protein-coding gene gene with protein product Approved Xq28 Xq28 Zinc fingers C2H2-type 28 1999-07-22 2023-01-20 10838 ENSG00000063587 OTTHUMG00000067450 uc065bsr.1 BC041602 NM_001080485 "CCDS48188|CCDS94693" Q9NSD4 MGI:1350985 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF275 HGNC:13069 "ENST00000650114.2|NM_001367757.1" HGNC:23330 ZNF276 zinc finger protein 276 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "MGC45417|ZNF477|CENPZ|CENP-Z|ZADT" "centromere protein Z|zinc finger, AD-type" ZFP276 zinc finger protein 276 homolog (mouse) Zinc fingers C2H2-type 28 2003-11-07 2006-02-10 2006-02-10 2023-01-20 92822 ENSG00000158805 OTTHUMG00000138050 uc002foq.5 AK026482 NM_152287 "CCDS45554|CCDS10986" Q8N554 "10936049|20813266" MGI:1888495 RGD:1307469 608460 HGNC:23330 "ENST00000443381.7|NM_001113525.2" HGNC:13070 ZNF277 zinc finger protein 277 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 NRIF4 ZNF277P "zinc finger protein (C2H2 type) 277|zinc finger protein 277 pseudogene" Zinc fingers C2H2-type 28 1999-09-07 2007-10-23 2007-10-23 2023-01-20 11179 ENSG00000198839 OTTHUMG00000150209 uc003vge.3 AF209198 NM_021994 CCDS5755 Q9NRM2 "10860669|16213364|16395595" MGI:1890393 RGD:1583856 605465 HGNC:13070 "ENST00000361822.8|NM_021994.3" @@ -43094,12 +43096,12 @@ HGNC:55828 ZNF277-AS1 ZNF277 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:18597 ZNF280A zinc finger protein 280A protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "3'OY11.1|ZNF636" "ZNF280|SUHW1" "zinc finger protein 280|suppressor of hairy wing homolog 1 (Drosophila)" Zinc fingers C2H2-type 28 2002-04-29 2007-09-20 2007-09-20 2023-01-20 129025 ENSG00000169548 OTTHUMG00000030545 uc032qhw.1 D87009 NM_080740 CCDS13800 P59817 9074928 HGNC:18597 "ENST00000302097.3|NM_080740.5" HGNC:23022 ZNF280B zinc finger protein 280B protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "5'OY11.1|ZNF632" "ZNF279|SUHW2" "zinc finger protein 279|suppressor of hairy wing homolog 2 (Drosophila)" Zinc fingers C2H2-type 28 2003-08-19 2007-09-20 2007-09-20 2023-01-20 140883 ENSG00000275004 OTTHUMG00000151066 uc062cby.1 AK097608 NM_080764 CCDS13799 Q86YH2 9074928 MGI:1927865 RGD:1565460 HGNC:23022 "ENST00000626650.3|NM_080764.4" HGNC:25955 ZNF280C zinc finger protein 280C protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "FLJ20095|ZNF633|ZPET" zinc finger protein proximal to RAD eighteen SUHW3 suppressor of hairy wing homolog 3 (Drosophila) Zinc fingers C2H2-type 28 2004-06-02 2007-09-20 2007-09-20 2023-01-20 55609 ENSG00000056277 OTTHUMG00000022393 uc004evm.4 AL834333 NM_017666 CCDS14622 Q8ND82 12477932 MGI:2387585 RGD:1564669 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF280C HGNC:25955 "ENST00000370978.9|NM_017666.5" -HGNC:25953 ZNF280D zinc finger protein 280D protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "FLJ20086|ZNF634" SUHW4 suppressor of hairy wing homolog 4 (Drosophila) Zinc fingers C2H2-type 28 2004-06-02 2007-09-20 2007-09-20 2023-01-20 54816 ENSG00000137871 OTTHUMG00000172509 uc002adu.5 AB046804 NM_001288588 "CCDS32245|CCDS42041|CCDS58364" Q6N043 10997877 MGI:2384583 RGD:1560796 HGNC:25953 "ENST00000267807.12|NM_017661.4" +HGNC:25953 ZNF280D zinc finger protein 280D protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "FLJ20086|ZNF634" SUHW4 suppressor of hairy wing homolog 4 (Drosophila) Zinc fingers C2H2-type 28 2004-06-02 2007-09-20 2007-09-20 2023-01-20 54816 ENSG00000137871 OTTHUMG00000172509 uc002adu.5 AB046804 NM_001288588 "CCDS32245|CCDS58364|CCDS42041" Q6N043 10997877 MGI:2384583 RGD:1560796 HGNC:25953 "ENST00000267807.12|NM_017661.4" HGNC:13075 ZNF281 zinc finger protein 281 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 ZBP-99 Zinc fingers C2H2-type 28 2000-01-31 2023-01-20 23528 ENSG00000162702 OTTHUMG00000035724 uc001gve.5 AF125158 NM_012482 "CCDS60384|CCDS1402" Q9Y2X9 10448078 MGI:3029290 RGD:1305139 618703 HGNC:13075 "ENST00000367353.2|NM_001281293.2" -HGNC:13076 ZNF282 zinc finger protein 282 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 HUB1 Zinc fingers C2H2-type 28 2000-03-22 2023-01-20 8427 ENSG00000170265 OTTHUMG00000158974 uc033apc.1 D30612 NM_003575 "CCDS5895|CCDS78284" Q9UDV7 9396811 MGI:2141413 RGD:1306278 603397 HGNC:13076 "ENST00000610704.5|NM_003575.4" +HGNC:13076 ZNF282 zinc finger protein 282 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 HUB1 Zinc fingers C2H2-type 28 2000-03-22 2023-01-20 8427 ENSG00000170265 OTTHUMG00000158974 uc033apc.1 D30612 NM_003575 "CCDS78284|CCDS5895" Q9UDV7 9396811 MGI:2141413 RGD:1306278 603397 HGNC:13076 "ENST00000610704.5|NM_003575.4" HGNC:13077 ZNF283 zinc finger protein 283 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1999-12-17 2023-03-15 284349 ENSG00000167637 OTTHUMG00000182186 uc002oxr.5 AK098175 NM_181845 CCDS46097 Q8N7M2 12743021 HGNC:13077 "ENST00000618787.5|NM_181845.2" HGNC:13078 ZNF284 zinc finger protein 284 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 DKFZp781F1775 Zinc fingers C2H2-type 28 1999-12-17 2023-01-20 342909 ENSG00000186026 OTTHUMG00000182312 uc002oyg.2 AY166789 NM_001037813 CCDS46099 Q2VY69 12743021 MGI:5591846 HGNC:13078 "ENST00000421176.4|NM_001037813.4" -HGNC:13079 ZNF285 zinc finger protein 285 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 ZNF285A zinc finger protein 285A Zinc fingers C2H2-type 28 1999-12-17 2010-04-14 2010-04-14 2023-01-20 26974 ENSG00000267508 OTTHUMG00000178848 uc002ozd.5 AK055309 NM_152354 "CCDS12638|CCDS74389" Q96NJ3 HGNC:13079 "ENST00000614994.5|NM_152354.6" +HGNC:13079 ZNF285 zinc finger protein 285 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 ZNF285A zinc finger protein 285A Zinc fingers C2H2-type 28 1999-12-17 2010-04-14 2010-04-14 2023-01-20 26974 ENSG00000267508 OTTHUMG00000178848 uc002ozd.5 AK055309 NM_152354 "CCDS74389|CCDS12638" Q96NJ3 HGNC:13079 "ENST00000614994.5|NM_152354.6" HGNC:33262 ZNF285BP zinc finger protein 285B, pseudogene pseudogene pseudogene Approved 19q13.31 19q13.31 ZNF285B "zinc finger protein 285B|zinc finger protein 285B (pseudogene)" Zinc fingers C2H2-type 28 2007-01-18 2021-08-10 2021-08-10 2021-08-10 147711 ENSG00000176761 OTTHUMG00000176423 NG_009596 PGOHUM00000295387 HGNC:33262 HGNC:33228 ZNF285CP zinc finger protein 285C, pseudogene pseudogene pseudogene Approved 2q21.2 02q21.2 ZNF806 zinc finger protein 806 Zinc fingers C2H2-type 28 2006-12-21 2021-08-10 2021-08-10 2021-10-07 646915 ENSG00000018607 OTTHUMG00000153932 NR_172491 PGOHUM00000240959 HGNC:33228 HGNC:51790 ZNF285DP zinc finger protein 285D, pseudogene pseudogene pseudogene Approved 20q11.21 20q11.21 Zinc fingers C2H2-type 28 2021-08-10 2021-08-10 2021-08-10 102723636 ENSG00000283443 NR_172079 PGOHUM00000297095 @@ -43111,36 +43113,36 @@ HGNC:18410 ZNF292 zinc finger protein 292 protein-coding gene gene with protein HGNC:23130 ZNF295-AS1 ZNF295 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 PRED87 "C21orf121|NCRNA00318" "chromosome 21 open reading frame 121|non-protein coding RNA 318|ZNF295 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-10-01 2011-08-11 2012-08-15 2023-03-15 150142 ENSG00000237232 OTTHUMG00000086787 uc062ajz.1 NR_027273 Q8N0V1 28781691 ZNF295-AS1 HGNC:23130 HGNC:15981 ZNF296 zinc finger protein 296 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 ZNF342 zinc finger protein 342 Zinc fingers C2H2-type 28 2001-07-02 2008-06-24 2008-06-24 2023-01-20 162979 ENSG00000170684 OTTHUMG00000181766 uc002pao.4 BC019352 NM_145288 CCDS12653 Q8WUU4 "11063263|14633674" MGI:1926956 RGD:1595818 613226 HGNC:15981 "ENST00000303809.7|NM_145288.3" HGNC:13088 ZNF299P zinc finger protein 299, pseudogene pseudogene pseudogene Approved 21q21.2 21q21.2 "ZNF299|ZNF299P1" "zinc finger protein 299|zinc finger protein 299 pseudogene 1" 2000-05-23 2010-08-04 2010-08-04 2021-04-27 54012 ENSG00000219368 OTTHUMG00000078250 NG_000898 PGOHUM00000239051 HGNC:13088 -HGNC:13091 ZNF300 zinc finger protein 300 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 Zinc fingers C2H2-type 28 2000-05-23 2023-01-20 91975 ENSG00000145908 OTTHUMG00000130076 uc021yfy.1 AF395541 NM_052860 "CCDS4311|CCDS54940|CCDS54939" Q96RE9 14746915 "MGI:2385044|MGI:3053207|MGI:3701121" RGD:9286049 612429 HGNC:13091 "ENST00000274599.10|NM_052860.4" +HGNC:13091 ZNF300 zinc finger protein 300 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 Zinc fingers C2H2-type 28 2000-05-23 2023-01-20 91975 ENSG00000145908 OTTHUMG00000130076 uc021yfy.1 AF395541 NM_052860 "CCDS54939|CCDS54940|CCDS4311" Q96RE9 14746915 "MGI:2385044|MGI:3053207|MGI:3701121" RGD:9286049 612429 HGNC:13091 "ENST00000274599.10|NM_052860.4" HGNC:27032 ZNF300P1 zinc finger protein 300 pseudogene 1 pseudogene pseudogene Approved 5q33.1 05q33.1 zinc finger protein 300 pseudogene 1 (functional) 2010-07-23 2016-01-29 2021-04-27 134466 ENSG00000197083 OTTHUMG00000154830 AK096536 NR_026867 24393131 PGOHUM00000300788 HGNC:27032 -HGNC:13848 ZNF302 zinc finger protein 302 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "ZNF327|ZNF135L|ZNF140L" Zinc fingers C2H2-type 28 2001-09-20 2023-01-20 55900 ENSG00000089335 OTTHUMG00000163329 uc002nvq.3 AF155656 NM_001012320 "CCDS74331|CCDS74332|CCDS74333|CCDS46042|CCDS74330" Q9NR11 HGNC:13848 "ENST00000505242.6|NM_001289187.2" -HGNC:13505 ZNF304 zinc finger protein 304 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2000-09-19 2023-01-20 57343 ENSG00000131845 OTTHUMG00000183245 uc061djc.1 AJ276316 NM_001290318 "CCDS12950|CCDS74462|CCDS77365" Q9HCX3 613840 HGNC:13505 "ENST00000282286.6|NM_020657.4" +HGNC:13848 ZNF302 zinc finger protein 302 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "ZNF327|ZNF135L|ZNF140L" Zinc fingers C2H2-type 28 2001-09-20 2023-01-20 55900 ENSG00000089335 OTTHUMG00000163329 uc002nvq.3 AF155656 NM_001012320 "CCDS46042|CCDS74332|CCDS74331|CCDS74330|CCDS74333" Q9NR11 HGNC:13848 "ENST00000505242.6|NM_001289187.2" +HGNC:13505 ZNF304 zinc finger protein 304 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2000-09-19 2023-01-20 57343 ENSG00000131845 OTTHUMG00000183245 uc061djc.1 AJ276316 NM_001290318 "CCDS74462|CCDS12950|CCDS77365" Q9HCX3 613840 HGNC:13505 "ENST00000282286.6|NM_020657.4" HGNC:13847 ZNF311 zinc finger protein 311 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 Zinc fingers C2H2-type 28 2003-05-28 2023-01-20 282890 ENSG00000197935 OTTHUMG00000031292 uc011idy.2 AL833166 NM_001010877 CCDS34357 Q5JNZ3 HGNC:13847 "ENST00000377179.4|NM_001382360.1" HGNC:13843 ZNF316 zinc finger protein 316 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "MZF-3|ENST00000305834" Zinc fingers C2H2-type 28 2004-06-08 2023-01-20 100131017 ENSG00000205903 OTTHUMG00000151854 uc021zzj.3 NM_001278559 CCDS75563 A6NFI3 MGI:1860402 RGD:1311647 HGNC:13843 "ENST00000382252.6|NM_001278559.2" -HGNC:13507 ZNF317 zinc finger protein 317 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zinc fingers C2H2-type 28 2001-07-13 2023-01-20 57693 ENSG00000130803 OTTHUMG00000179932 uc002mku.4 AF275255 NM_020933 "CCDS54213|CCDS12210" Q96PQ6 "10997877|11688974" MGI:107775 RGD:1565419 613864 HGNC:13507 "ENST00000247956.11|NM_020933.5" +HGNC:13507 ZNF317 zinc finger protein 317 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zinc fingers C2H2-type 28 2001-07-13 2023-01-20 57693 ENSG00000130803 OTTHUMG00000179932 uc002mku.4 AF275255 NM_020933 "CCDS12210|CCDS54213" Q96PQ6 "10997877|11688974" MGI:107775 RGD:1565419 613864 HGNC:13507 "ENST00000247956.11|NM_020933.5" HGNC:31062 ZNF317P1 zinc finger protein 317 pseudogene 1 pseudogene pseudogene Approved 8q22.1 08q22.1 2005-10-06 2021-04-27 100288659 ENSG00000253781 OTTHUMG00000164237 NG_022426 PGOHUM00000249746 HGNC:31062 HGNC:13578 ZNF318 zinc finger protein 318 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "HRIHFB2436|ZFP318" "Zinc fingers C2H2-type|Zinc fingers matrin-type" "28|84" 2003-05-01 2023-01-20 24149 ENSG00000171467 OTTHUMG00000014732 uc003oux.3 AF090114 NM_014345 CCDS4895 Q5VUA4 10873617 MGI:1889348 RGD:1583221 617512 HGNC:13578 "ENST00000361428.3|NM_014345.3" HGNC:13644 ZNF319 zinc finger protein 319 protein-coding gene gene with protein product Approved 16q21 16q21 "KIAA1388|Zfp319" Zinc fingers C2H2-type 28 2002-10-09 2023-01-20 57567 ENSG00000166188 OTTHUMG00000175512 uc002emx.2 AB037809 NM_001384365 CCDS32462 Q9P2F9 "10718198|11161788" MGI:1890618 RGD:1306198 HGNC:13644 "ENST00000299237.3|NM_020807.3" -HGNC:13842 ZNF320 zinc finger protein 320 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "ZFPL|DKFZp686G16228" Zinc fingers C2H2-type 28 2006-07-19 2023-01-20 162967 ENSG00000182986 OTTHUMG00000182797 uc002qai.4 AF086262 NM_207333 "CCDS33095|CCDS92678" A2RRD8 11536051 606427 HGNC:13842 "ENST00000682928.1|NM_001351774.2" +HGNC:13842 ZNF320 zinc finger protein 320 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "ZFPL|DKFZp686G16228" Zinc fingers C2H2-type 28 2006-07-19 2023-01-20 162967 ENSG00000182986 OTTHUMG00000182797 uc002qai.4 AF086262 NM_207333 "CCDS92678|CCDS33095" A2RRD8 11536051 606427 HGNC:13842 "ENST00000682928.1|NM_001351774.2" HGNC:13827 ZNF321P zinc finger protein 321, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 MGC35402 ZNF321 zinc finger protein 321 2001-07-27 2011-04-19 2011-04-19 2023-03-15 399669 ENSG00000213801 OTTHUMG00000167760 AK096828 NR_037805 Q8N8H1 HGNC:13827 HGNC:23640 ZNF322 zinc finger protein 322 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "bA457M11.3|bA457M11.2" "ZNF489|ZNF388|HCG12|ZNF322A" "zinc finger protein 489|HLA complex group 12|zinc finger protein 322A" Zinc fingers C2H2-type 28 2003-11-27 2011-07-29 2011-07-29 2023-01-20 79692 ENSG00000181315 OTTHUMG00000014460 uc003nil.4 AY376736 NM_024639 CCDS4617 Q6U7Q0 15555580 MGI:2442566 RGD:1594230 610847 HGNC:23640 "ENST00000415922.7|NM_024639.5" HGNC:14003 ZNF322P1 zinc finger protein 322 pseudogene 1 pseudogene pseudogene Approved 9q22.33 09q22.33 "ZNF322|ZNF322B" "zinc finger protein 322|zinc finger protein 322B" 2000-11-27 2011-07-29 2011-07-29 2023-03-15 387328 ENSG00000188801 OTTHUMG00000020322 NG_032063 HGNC:14003 HGNC:14096 ZNF324 zinc finger protein 324 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZF5128|ZNF324A" Zinc fingers C2H2-type 28 2000-12-11 2023-01-20 25799 ENSG00000083812 OTTHUMG00000183540 uc061dtb.1 AF060503 NM_014347 CCDS12981 O75467 MGI:2444641 617477 HGNC:14096 "ENST00000196482.4|NM_014347.3" HGNC:33107 ZNF324B zinc finger protein 324B protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ45850 Zinc fingers C2H2-type 28 2006-08-14 2023-01-20 388569 ENSG00000249471 OTTHUMG00000183539 uc002qsv.2 AK127750 NM_207395 CCDS33138 Q6AW86 MGI:2444641 RGD:1306631 HGNC:33107 "ENST00000336614.9|NM_207395.3" -HGNC:14104 ZNF326 zinc finger protein 326 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "Zfp326|ZAN75|FLJ20403|ZIRD" ZNF-protein interacting with nuclear mRNPs and DBC1 Zinc fingers C2H2-type 28 2001-09-26 2023-03-15 284695 ENSG00000162664 OTTHUMG00000010675 uc001dnq.3 BC013102 NM_181781 "CCDS728|CCDS81351|CCDS727" Q5BKZ1 22446626 MGI:1927246 RGD:1592829 614601 HGNC:14104 "ENST00000340281.9|NM_182976.4" +HGNC:14104 ZNF326 zinc finger protein 326 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "Zfp326|ZAN75|FLJ20403|ZIRD" ZNF-protein interacting with nuclear mRNPs and DBC1 Zinc fingers C2H2-type 28 2001-09-26 2023-03-15 284695 ENSG00000162664 OTTHUMG00000010675 uc001dnq.3 BC013102 NM_181781 "CCDS81351|CCDS728|CCDS727" Q5BKZ1 22446626 MGI:1927246 RGD:1592829 614601 HGNC:14104 "ENST00000340281.9|NM_182976.4" HGNC:14209 ZNF329 zinc finger protein 329 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ12586 Zinc fingers C2H2-type 28 2000-12-12 2023-01-20 79673 ENSG00000181894 OTTHUMG00000183453 uc032igm.2 AK022648 NM_024620 CCDS12972 Q86UD4 MGI:1921283 RGD:1565029 HGNC:14209 "ENST00000598312.6|NM_024620.4" HGNC:15462 ZNF330 zinc finger protein 330 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "NOA36|HSA6591" Zinc fingers 26 2003-12-02 2023-01-20 27309 ENSG00000109445 OTTHUMG00000133413 uc003iiq.5 AJ006591 NM_014487 CCDS3754 Q9Y3S2 "11528117|10593942" MGI:1353574 RGD:1307510 609550 HGNC:15462 "ENST00000262990.9|NM_014487.6" HGNC:15489 ZNF331 zinc finger protein 331 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "RITA|ZNF463|ZNF361" rearranged in thyroid adenomas Zinc fingers C2H2-type 28 2003-10-06 2023-01-20 55422 ENSG00000130844 OTTHUMG00000163019 uc002qbx.2 AF251515 NM_018555 CCDS33102 Q9NQX6 LRG_1068|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1068.xml ZNF331 606043 HGNC:15489 "ENST00000449416.6|NM_001079906.2" HGNC:15624 ZNF333 zinc finger protein 333 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 KIAA1806 Zinc fingers C2H2-type 28 2005-01-07 2023-01-20 84449 ENSG00000160961 OTTHUMG00000183407 uc002mzn.4 NM_032433 "CCDS12316|CCDS74298" Q96JL9 12151103 611811 HGNC:15624 "ENST00000292530.11|NM_032433.4" -HGNC:15806 ZNF334 zinc finger protein 334 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 bA179N14.1 Zinc fingers C2H2-type 28 2001-09-17 2023-03-15 55713 ENSG00000198185 OTTHUMG00000032654 uc002xsc.5 AK001331 NM_001270497 "CCDS74736|CCDS86959|CCDS33480" Q9HCZ1 MGI:2388656 RGD:1592574 HGNC:15806 "ENST00000692313.1|NM_001353824.2" +HGNC:15806 ZNF334 zinc finger protein 334 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 bA179N14.1 Zinc fingers C2H2-type 28 2001-09-17 2023-03-15 55713 ENSG00000198185 OTTHUMG00000032654 uc002xsc.5 AK001331 NM_001270497 "CCDS86959|CCDS33480|CCDS74736" Q9HCZ1 MGI:2388656 RGD:1592574 HGNC:15806 "ENST00000692313.1|NM_001353824.2" HGNC:15807 ZNF335 zinc finger protein 335 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "bA465L10.2|NIF-1" NRC-interacting factor 1 Zinc fingers C2H2-type 28 2001-09-17 2023-01-20 63925 ENSG00000198026 OTTHUMG00000032637 uc002xqw.4 AK026157 NM_022095 CCDS13389 Q9H4Z2 "12215545|19131338" MGI:2682313 RGD:628751 610827 331701 HGNC:15807 "ENST00000322927.3|NM_022095.4" HGNC:15807 HGNC:15809 ZNF337 zinc finger protein 337 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 dJ694B14.1 Zinc fingers C2H2-type 28 2001-09-17 2023-01-20 26152 ENSG00000130684 OTTHUMG00000032131 uc002wvc.4 NM_001290261 CCDS13174 Q9Y3M9 HGNC:15809 "ENST00000252979.6|NM_015655.4" HGNC:40759 ZNF337-AS1 ZNF337 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 Antisense RNAs 1987 2014-01-08 2016-11-28 102724826 ENSG00000213742 OTTHUMG00000032129 NR_126465 ZNF337-AS1 HGNC:40759 -HGNC:15992 ZNF341 zinc finger protein 341 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 dJ553F4.3 Zinc fingers C2H2-type 28 2001-09-17 2023-01-20 84905 ENSG00000131061 OTTHUMG00000032275 uc002wzx.5 AK027550 NM_001282933 "CCDS74719|CCDS13227" Q9BYN7 MGI:2682937 RGD:1564726 618269 HGNC:15992 "ENST00000375200.6|NM_001282933.2" HGNC:15992 +HGNC:15992 ZNF341 zinc finger protein 341 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 dJ553F4.3 Zinc fingers C2H2-type 28 2001-09-17 2023-01-20 84905 ENSG00000131061 OTTHUMG00000032275 uc002wzx.5 AK027550 NM_001282933 "CCDS13227|CCDS74719" Q9BYN7 MGI:2682937 RGD:1564726 618269 HGNC:15992 "ENST00000375200.6|NM_001282933.2" HGNC:15992 HGNC:50736 ZNF341-AS1 ZNF341 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 Antisense RNAs 1987 2014-06-13 2014-06-13 101929746 ENSG00000230753 OTTHUMG00000032278 NR_110623 ZNF341-AS1 HGNC:50736 -HGNC:16017 ZNF343 zinc finger protein 343 protein-coding gene gene with protein product Approved 20p13 20p13 MGC10715 Zinc fingers C2H2-type 28 2001-07-16 2023-01-20 79175 ENSG00000088876 OTTHUMG00000031701 uc002wge.2 AK096911 NM_024325 "CCDS74693|CCDS74694|CCDS13028|CCDS74692" Q6P1L6 HGNC:16017 "ENST00000278772.9|NM_024325.6" +HGNC:16017 ZNF343 zinc finger protein 343 protein-coding gene gene with protein product Approved 20p13 20p13 MGC10715 Zinc fingers C2H2-type 28 2001-07-16 2023-01-20 79175 ENSG00000088876 OTTHUMG00000031701 uc002wge.2 AK096911 NM_024325 "CCDS74692|CCDS74693|CCDS13028|CCDS74694" Q6P1L6 HGNC:16017 "ENST00000278772.9|NM_024325.6" HGNC:16367 ZNF345 zinc finger protein 345 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 HZF10 Zinc fingers C2H2-type 28 2001-08-07 2023-01-20 25850 ENSG00000251247 OTTHUMG00000048162 uc002oex.4 X78933 NM_001242472 CCDS12497 Q14585 7865130 HGNC:16367 "ENST00000420450.6|NM_001242472.2" -HGNC:16403 ZNF346 zinc finger protein 346 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "JAZ|Zfp346" Zinc fingers matrin-type 84 2004-04-28 2023-01-20 23567 ENSG00000113761 OTTHUMG00000130848 uc003mfi.4 AF083340 NM_012279 "CCDS78094|CCDS4409|CCDS83054|CCDS87353|CCDS83052|CCDS83053" Q9UL40 10488071 MGI:1349417 RGD:1308068 605308 HGNC:16403 "ENST00000358149.8|NM_012279.4" +HGNC:16403 ZNF346 zinc finger protein 346 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "JAZ|Zfp346" Zinc fingers matrin-type 84 2004-04-28 2023-01-20 23567 ENSG00000113761 OTTHUMG00000130848 uc003mfi.4 AF083340 NM_012279 "CCDS4409|CCDS83053|CCDS83054|CCDS87353|CCDS78094|CCDS83052" Q9UL40 10488071 MGI:1349417 RGD:1308068 605308 HGNC:16403 "ENST00000358149.8|NM_012279.4" HGNC:41423 ZNF346-IT1 ZNF346 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 ZNF346 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 106480741 ENSG00000251666 OTTHUMG00000163314 uc063kbe.1 ZNF346-IT1 HGNC:16447 ZNF347 zinc finger protein 347 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 ZNF1111 zinc finger 1111 Zinc fingers C2H2-type 28 2001-08-24 2023-01-20 84671 ENSG00000197937 OTTHUMG00000182883 uc002qbb.3 AY029765 NM_032584 "CCDS33097|CCDS54314" Q96SE7 MGI:108187 HGNC:16447 "ENST00000334197.12|NM_032584.3" HGNC:16656 ZNF350 zinc finger protein 350 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "ZBRK1|ZFQR" Zinc fingers C2H2-type 28 2003-05-16 2023-01-20 59348 ENSG00000256683 OTTHUMG00000182538 uc002pyd.4 AF295096 NM_021632 CCDS12845 Q9GZX5 "11090615|11161714" 605422 HGNC:16656 "ENST00000243644.9|NM_021632.4" @@ -43156,9 +43158,9 @@ HGNC:18316 ZNF366 zinc finger protein 366 protein-coding gene gene with protein HGNC:18320 ZNF367 zinc finger protein 367 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 FLJ33970 Zinc fingers C2H2-type 28 2002-04-29 2023-01-20 195828 ENSG00000165244 OTTHUMG00000020295 uc004awf.4 AK091289 NM_153695 CCDS6718 Q7RTV3 MGI:2442266 RGD:1307136 610160 HGNC:18320 "ENST00000375256.5|NM_153695.4" HGNC:17409 ZNF382 zinc finger protein 382 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ14686|KS1" Zinc fingers C2H2-type 28 2003-11-27 2023-01-20 84911 ENSG00000161298 OTTHUMG00000048153 uc002oek.5 AF513816 NM_032825 "CCDS33004|CCDS58659" Q96SR6 MGI:3588204 RGD:708385 609516 HGNC:17409 "ENST00000292928.7|NM_032825.5" HGNC:18609 ZNF383 zinc finger protein 383 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 "FLJ35863|Zfp383" Zinc fingers C2H2-type 28 2004-04-15 2023-01-20 163087 ENSG00000188283 OTTHUMG00000181890 uc002oft.2 AY438646 NM_152604 CCDS12501 Q8NA42 MGI:1920979 RGD:2318764 619499 HGNC:18609 "ENST00000684119.1|NM_001387601.1" -HGNC:11955 ZNF384 zinc finger protein 384 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CAGH1A|CIZ|NMP4|NP" TNRC1 trinucleotide repeat containing 1 Zinc fingers C2H2-type 28 2000-01-27 2002-05-24 2002-05-23 2023-03-15 171017 ENSG00000126746 OTTHUMG00000168716 uc010sfh.3 U80738 NM_001039920 "CCDS8557|CCDS91645|CCDS31732|CCDS44817" Q8TF68 "9225980|11149472" MGI:2443203 RGD:708346 ZNF384 609951 HGNC:11955 "ENST00000683879.1|NM_001385745.1" -HGNC:17521 ZNF385A zinc finger protein 385A protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "DKFZp586G1122|Hzf|ZFP385" ZNF385 zinc finger protein 385 Zinc fingers matrin-type 84 2003-10-28 2007-12-06 2007-12-06 2023-01-20 25946 ENSG00000161642 OTTHUMG00000169840 uc001sfy.4 AF304052 NM_015481 "CCDS44910|CCDS76563|CCDS44911|CCDS8879" Q96PM9 MGI:1352495 RGD:1593784 609124 HGNC:17521 "ENST00000394313.7|NM_015481.3" HGNC:17521 -HGNC:26332 ZNF385B zinc finger protein 385B protein-coding gene gene with protein product Approved 2q31.2-q31.3 02q31.2-q31.3 FLJ25270 ZNF533 zinc finger protein 533 "Zinc fingers matrin-type|MicroRNA protein coding host genes" "84|1691" 2004-02-05 2007-12-06 2007-12-06 2023-01-20 151126 ENSG00000144331 OTTHUMG00000154559 uc002unn.5 AK057999 NM_152520 "CCDS33339|CCDS46464|CCDS46463" Q569K4 "22945289|23029477" MGI:2444734 RGD:1311181 612344 HGNC:26332 "ENST00000410066.7|NM_152520.6" +HGNC:11955 ZNF384 zinc finger protein 384 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CAGH1A|CIZ|NMP4|NP" TNRC1 trinucleotide repeat containing 1 Zinc fingers C2H2-type 28 2000-01-27 2002-05-24 2002-05-23 2023-03-15 171017 ENSG00000126746 OTTHUMG00000168716 uc010sfh.3 U80738 NM_001039920 "CCDS44817|CCDS91645|CCDS31732|CCDS8557" Q8TF68 "9225980|11149472" MGI:2443203 RGD:708346 ZNF384 609951 HGNC:11955 "ENST00000683879.1|NM_001385745.1" +HGNC:17521 ZNF385A zinc finger protein 385A protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "DKFZp586G1122|Hzf|ZFP385" ZNF385 zinc finger protein 385 Zinc fingers matrin-type 84 2003-10-28 2007-12-06 2007-12-06 2023-01-20 25946 ENSG00000161642 OTTHUMG00000169840 uc001sfy.4 AF304052 NM_015481 "CCDS8879|CCDS44911|CCDS44910|CCDS76563" Q96PM9 MGI:1352495 RGD:1593784 609124 HGNC:17521 "ENST00000394313.7|NM_015481.3" HGNC:17521 +HGNC:26332 ZNF385B zinc finger protein 385B protein-coding gene gene with protein product Approved 2q31.2-q31.3 02q31.2-q31.3 FLJ25270 ZNF533 zinc finger protein 533 "Zinc fingers matrin-type|MicroRNA protein coding host genes" "84|1691" 2004-02-05 2007-12-06 2007-12-06 2023-01-20 151126 ENSG00000144331 OTTHUMG00000154559 uc002unn.5 AK057999 NM_152520 "CCDS46464|CCDS46463|CCDS33339" Q569K4 "22945289|23029477" MGI:2444734 RGD:1311181 612344 HGNC:26332 "ENST00000410066.7|NM_152520.6" HGNC:33722 ZNF385C zinc finger protein 385C protein-coding gene gene with protein product Approved 17q21.2 17q21.2 Zinc fingers matrin-type 84 2007-12-06 2023-03-15 201181 ENSG00000187595 OTTHUMG00000132073 uc060fgj.1 BC067901 NM_001013624 CCDS92306 Q66K41 MGI:3608347 RGD:1563442 HGNC:33722 "ENST00000692273.1|NM_001392013.1" HGNC:26191 ZNF385D zinc finger protein 385D protein-coding gene gene with protein product Approved 3p24.3 03p24.3 FLJ22419 ZNF659 zinc finger protein 659 Zinc fingers matrin-type 84 2005-01-24 2007-12-06 2007-12-06 2023-01-20 79750 ENSG00000151789 OTTHUMG00000130484 uc003cce.5 BC007212 NM_024697 CCDS2636 Q9H6B1 12477932 RGD:1359606 HGNC:26191 "ENST00000281523.8|NM_024697.3" HGNC:41136 ZNF385D-AS1 ZNF385D antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 ZNF385D antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2016-11-24 100874216 ENSG00000225542 OTTHUMG00000155559 uc062hlq.1 NR_046731 ZNF385D-AS1 HGNC:41136 @@ -43166,57 +43168,57 @@ HGNC:42420 ZNF385D-AS2 ZNF385D antisense RNA 2 non-coding RNA RNA, long non-codi HGNC:18779 ZNF391 zinc finger protein 391 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 dJ153G14.3 Zinc fingers C2H2-type 28 2003-11-27 2023-01-20 346157 ENSG00000124613 OTTHUMG00000014477 uc003njf.2 BC132797 NM_001076781 CCDS43429 Q9UJN7 HGNC:18779 "ENST00000244576.9|NM_001076781.3" HGNC:18832 ZNF394 zinc finger protein 394 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "ZKSCAN14|FLJ12298|ZSCAN46" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2002-07-22 2023-01-20 84124 ENSG00000160908 OTTHUMG00000154660 uc003uqs.4 BC025241 NM_032164 "CCDS5666|CCDS87524" Q53GI3 15249231 MGI:1914485 RGD:628654 619300 HGNC:18832 "ENST00000337673.7|NM_032164.4" HGNC:18737 ZNF395 zinc finger protein 395 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "PRF-1|HDBP2|PBF|DKFZp434K1210" Zinc fingers C2H2-type 28 2004-04-30 2023-01-20 55893 ENSG00000186918 OTTHUMG00000102137 uc003xgr.4 AB044750 NM_018660 CCDS6067 Q9H8N7 14625278 MGI:2682318 RGD:1307849 609494 HGNC:18737 "ENST00000344423.10|NM_018660.3" -HGNC:18824 ZNF396 zinc finger protein 396 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "ZSCAN14|FLJ31213" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2002-07-22 2023-01-20 252884 ENSG00000186496 OTTHUMG00000132562 uc060olp.1 AK055775 NM_145756 "CCDS82246|CCDS82247|CCDS11913" Q96N95 609600 HGNC:18824 "ENST00000589332.7|NM_001322286.2" +HGNC:18824 ZNF396 zinc finger protein 396 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "ZSCAN14|FLJ31213" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2002-07-22 2023-01-20 252884 ENSG00000186496 OTTHUMG00000132562 uc060olp.1 AK055775 NM_145756 "CCDS82247|CCDS11913|CCDS82246" Q96N95 609600 HGNC:18824 "ENST00000589332.7|NM_001322286.2" HGNC:18818 ZNF397 zinc finger protein 397 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "ZSCAN15|MGC13250" ZNF47 zinc finger protein 47 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2002-07-22 2003-07-22 2023-01-20 84307 ENSG00000186812 OTTHUMG00000178532 uc010dmp.4 BC006172 NM_032347 "CCDS45852|CCDS32814" Q8NF99 MGI:1916506 RGD:6504280 609601 HGNC:18818 "ENST00000330501.12|NM_001135178.3" HGNC:18373 ZNF398 zinc finger protein 398 protein-coding gene gene with protein product Approved 7q35 07q35 "ZER6|KIAA1339|P51|P71" Zinc fingers C2H2-type 28 2002-08-06 2023-01-20 57541 ENSG00000197024 OTTHUMG00000158970 uc011kul.3 AB037760 NM_020781 Q8TD17 11779858 MGI:1917856 RGD:1562129 618593 HGNC:18373 "ENST00000475153.6|NM_170686.3" HGNC:19292 ZNF402P zinc finger protein 402, pseudogene pseudogene pseudogene Approved 22q11.1 22q11.1 "zinc finger protein 402 pseudogene|zinc finger protein 402 (pseudogene)" 2002-10-03 2010-08-03 2023-03-17 266673 ENSG00000220248 OTTHUMG00000147350 NG_002664 PGOHUM00000297433 HGNC:19292 HGNC:19417 ZNF404 zinc finger protein 404 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 2002-11-04 2023-01-20 342908 ENSG00000176222 OTTHUMG00000182206 uc002oxs.7 NM_001033719 CCDS59394 Q494X3 HGNC:19417 "ENST00000587539.2|NM_001033719.3" -HGNC:19904 ZNF407 zinc finger protein 407 protein-coding gene gene with protein product Approved 18q23 18q23 "FLJ20307|FLJ13839|KIAA1703" "Zinc fingers C2H2-type|Zinc fingers matrin-type" "28|84" 2002-11-29 2023-01-20 55628 ENSG00000215421 OTTHUMG00000179122 uc002llw.3 AB051490 NM_017757 "CCDS54191|CCDS58634|CCDS45885" Q9C0G0 11214970 MGI:2685179 RGD:1310645 615894 HGNC:19904 "ENST00000299687.10|NM_017757.3" HGNC:19904 +HGNC:19904 ZNF407 zinc finger protein 407 protein-coding gene gene with protein product Approved 18q23 18q23 "FLJ20307|FLJ13839|KIAA1703" "Zinc fingers C2H2-type|Zinc fingers matrin-type" "28|84" 2002-11-29 2023-01-20 55628 ENSG00000215421 OTTHUMG00000179122 uc002llw.3 AB051490 NM_017757 "CCDS58634|CCDS45885|CCDS54191" Q9C0G0 11214970 MGI:2685179 RGD:1310645 615894 HGNC:19904 "ENST00000299687.10|NM_017757.3" HGNC:19904 HGNC:44331 ZNF407-AS1 ZNF407 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q22.3 18q22.3 LINC00909 long intergenic non-protein coding RNA 909 Antisense RNAs 1987 2013-05-21 2020-10-21 2020-10-21 2020-10-21 400657 ENSG00000264247 OTTHUMG00000179121 NR_024484 "27980086|31132669" LINC00909 HGNC:44331 HGNC:20041 ZNF408 zinc finger protein 408 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 FLJ12827 "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2002-12-16 2023-01-20 79797 ENSG00000175213 OTTHUMG00000166568 uc001nde.3 AF346626 NM_024741 CCDS7923 Q9H9D4 15231747 MGI:2685857 RGD:2318583 616454 357738 HGNC:20041 "ENST00000311764.3|NM_024741.3" HGNC:20041 -HGNC:20144 ZNF410 zinc finger protein 410 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "APA1|APA-1" Zinc fingers C2H2-type 28 2003-12-10 2023-01-20 57862 ENSG00000119725 OTTHUMG00000171257 uc001xoz.3 U90919 NM_021188 "CCDS55930|CCDS55929|CCDS9821|CCDS55931" Q86VK4 12370286 MGI:1289280 RGD:1305636 619427 HGNC:20144 "ENST00000555044.6|NM_021188.3" -HGNC:20630 ZNF414 zinc finger protein 414 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC15716|Zfp414" Zinc fingers C2H2-type 28 2005-04-26 2023-01-20 84330 ENSG00000133250 OTTHUMG00000182240 uc002mke.5 AK074191 NM_032370 "CCDS12205|CCDS54211" Q96IQ9 MGI:1915641 RGD:1308123 HGNC:20630 "ENST00000393927.9|NM_001146175.2" -HGNC:20636 ZNF415 zinc finger protein 415 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Zinc fingers C2H2-type 28 2004-02-20 2023-01-20 55786 ENSG00000170954 OTTHUMG00000182865 uc010yds.3 AK002053 NM_018355 "CCDS82393|CCDS54313|CCDS12860" Q09FC8 14702039 619506 HGNC:20636 "ENST00000243643.9|NM_018355.4" +HGNC:20144 ZNF410 zinc finger protein 410 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "APA1|APA-1" Zinc fingers C2H2-type 28 2003-12-10 2023-01-20 57862 ENSG00000119725 OTTHUMG00000171257 uc001xoz.3 U90919 NM_021188 "CCDS9821|CCDS55931|CCDS55929|CCDS55930" Q86VK4 12370286 MGI:1289280 RGD:1305636 619427 HGNC:20144 "ENST00000555044.6|NM_021188.3" +HGNC:20630 ZNF414 zinc finger protein 414 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC15716|Zfp414" Zinc fingers C2H2-type 28 2005-04-26 2023-01-20 84330 ENSG00000133250 OTTHUMG00000182240 uc002mke.5 AK074191 NM_032370 "CCDS54211|CCDS12205" Q96IQ9 MGI:1915641 RGD:1308123 HGNC:20630 "ENST00000393927.9|NM_001146175.2" +HGNC:20636 ZNF415 zinc finger protein 415 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Zinc fingers C2H2-type 28 2004-02-20 2023-01-20 55786 ENSG00000170954 OTTHUMG00000182865 uc010yds.3 AK002053 NM_018355 "CCDS54313|CCDS82393|CCDS12860" Q09FC8 14702039 619506 HGNC:20636 "ENST00000243643.9|NM_018355.4" HGNC:49869 ZNF415P1 zinc finger protein 415 pseudogene 1 pseudogene pseudogene Approved 18p11.22 18p11.22 2014-03-18 2014-03-18 100419893 ENSG00000266127 OTTHUMG00000178559 NG_026310 PGOHUM00000234986 HGNC:49869 HGNC:20645 ZNF416 zinc finger protein 416 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ20557 Zinc fingers C2H2-type 28 2003-03-17 2023-01-20 55659 ENSG00000083817 OTTHUMG00000183467 uc002qpf.4 BC000130 NM_017879 CCDS12954 Q9BWM5 MGI:2444763 RGD:1311663 HGNC:20645 "ENST00000196489.4|NM_017879.3" -HGNC:20646 ZNF417 zinc finger protein 417 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC34079 Zinc fingers C2H2-type 28 2003-03-17 2023-01-20 147687 ENSG00000173480 OTTHUMG00000183488 uc002qqq.4 BC025783 NM_152475 "CCDS12965|CCDS74469" Q8TAU3 HGNC:20646 "ENST00000312026.6|NM_152475.3" -HGNC:20647 ZNF418 zinc finger protein 418 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "KIAA1956|FLJ31551" Zinc fingers C2H2-type 28 2003-03-17 2023-01-20 147686 ENSG00000196724 OTTHUMG00000183448 uc002qqs.1 "AB075836|AY695825" NM_133460 "CCDS82410|CCDS82409|CCDS42642" Q8TF45 11853319 619509 HGNC:20647 "ENST00000396147.6|NM_133460.3" -HGNC:20648 ZNF419 zinc finger protein 419 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZAPHIR ZNF419A zinc finger protein 419A "Zinc fingers C2H2-type|Minor histocompatibility antigens" "28|870" 2003-03-17 2006-12-15 2006-12-15 2023-01-20 79744 ENSG00000105136 OTTHUMG00000037073 uc002qow.3 AK026886 NM_024691 "CCDS54326|CCDS54327|CCDS54325|CCDS54328|CCDS42637|CCDS46211" Q96HQ0 21738768 617410 HGNC:20648 "ENST00000221735.12|NM_024691.4" -HGNC:20649 ZNF420 zinc finger protein 420 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ32191 Zinc fingers C2H2-type 28 2003-03-17 2023-01-20 147923 ENSG00000197050 OTTHUMG00000048168 uc002ofl.4 AK056695 NM_144689 "CCDS12498|CCDS86757" Q8TAQ5 MGI:2444666 RGD:2323829 617216 HGNC:20649 "ENST00000337995.4|NM_144689.5" -HGNC:16762 ZNF423 zinc finger protein 423 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "KIAA0760|OAZ|hOAZ|Ebfaz|Zfp104|NPHP14|JBTS19" "OLF-1/EBF associated zinc finger gene|Smad- and Olf-interacting zinc finger protein|early B-cell factor associated zinc finger protein" Zinc fingers C2H2-type 28 2004-04-06 2023-01-20 23090 ENSG00000102935 OTTHUMG00000173491 uc031qwd.2 AB018303 NM_015069 "CCDS61930|CCDS32445|CCDS81979|CCDS92157" Q2M1K9 "9872452|10660046" MGI:1891217 RGD:621664 604557 313822 HGNC:16762 "ENST00000563137.7|NM_001379286.1" HGNC:16762 +HGNC:20646 ZNF417 zinc finger protein 417 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC34079 Zinc fingers C2H2-type 28 2003-03-17 2023-01-20 147687 ENSG00000173480 OTTHUMG00000183488 uc002qqq.4 BC025783 NM_152475 "CCDS74469|CCDS12965" Q8TAU3 HGNC:20646 "ENST00000312026.6|NM_152475.3" +HGNC:20647 ZNF418 zinc finger protein 418 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "KIAA1956|FLJ31551" Zinc fingers C2H2-type 28 2003-03-17 2023-01-20 147686 ENSG00000196724 OTTHUMG00000183448 uc002qqs.1 "AB075836|AY695825" NM_133460 "CCDS82409|CCDS42642|CCDS82410" Q8TF45 11853319 619509 HGNC:20647 "ENST00000396147.6|NM_133460.3" +HGNC:20648 ZNF419 zinc finger protein 419 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZAPHIR ZNF419A zinc finger protein 419A "Zinc fingers C2H2-type|Minor histocompatibility antigens" "28|870" 2003-03-17 2006-12-15 2006-12-15 2023-01-20 79744 ENSG00000105136 OTTHUMG00000037073 uc002qow.3 AK026886 NM_024691 "CCDS46211|CCDS42637|CCDS54325|CCDS54327|CCDS54326|CCDS54328" Q96HQ0 21738768 617410 HGNC:20648 "ENST00000221735.12|NM_024691.4" +HGNC:20649 ZNF420 zinc finger protein 420 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ32191 Zinc fingers C2H2-type 28 2003-03-17 2023-01-20 147923 ENSG00000197050 OTTHUMG00000048168 uc002ofl.4 AK056695 NM_144689 "CCDS86757|CCDS12498" Q8TAQ5 MGI:2444666 RGD:2323829 617216 HGNC:20649 "ENST00000337995.4|NM_144689.5" +HGNC:16762 ZNF423 zinc finger protein 423 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "KIAA0760|OAZ|hOAZ|Ebfaz|Zfp104|NPHP14|JBTS19" "OLF-1/EBF associated zinc finger gene|Smad- and Olf-interacting zinc finger protein|early B-cell factor associated zinc finger protein" Zinc fingers C2H2-type 28 2004-04-06 2023-01-20 23090 ENSG00000102935 OTTHUMG00000173491 uc031qwd.2 AB018303 NM_015069 "CCDS61930|CCDS92157|CCDS81979|CCDS32445" Q2M1K9 "9872452|10660046" MGI:1891217 RGD:621664 604557 313822 HGNC:16762 "ENST00000563137.7|NM_001379286.1" HGNC:16762 HGNC:20690 ZNF425 zinc finger protein 425 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 Zinc fingers C2H2-type 28 2003-03-31 2023-01-20 155054 ENSG00000204947 OTTHUMG00000158971 uc003wfj.4 AK056498 NM_001001661 CCDS34773 Q6IV72 619507 HGNC:20690 "ENST00000378061.7|NM_001001661.3" -HGNC:20725 ZNF426 zinc finger protein 426 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC2663 Zinc fingers C2H2-type 28 2003-03-25 2023-01-20 79088 ENSG00000130818 OTTHUMG00000180132 uc002mlq.4 AK095759 NM_024106 "CCDS74279|CCDS82285|CCDS12215" Q9BUY5 MGI:1920248 RGD:1590942 HGNC:20725 "ENST00000253115.7|NM_024106.3" +HGNC:20725 ZNF426 zinc finger protein 426 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC2663 Zinc fingers C2H2-type 28 2003-03-25 2023-01-20 79088 ENSG00000130818 OTTHUMG00000180132 uc002mlq.4 AK095759 NM_024106 "CCDS82285|CCDS74279|CCDS12215" Q9BUY5 MGI:1920248 RGD:1590942 HGNC:20725 "ENST00000253115.7|NM_024106.3" HGNC:53777 ZNF426-DT ZNF426 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 Divergent transcripts 1990 2017-11-17 2017-11-17 101928238 ENSG00000278611 OTTHUMG00000186586 NR_134920 HGNC:53777 HGNC:20804 ZNF428 zinc finger protein 428 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "MGC51082|Zfp428" C19orf37 chromosome 19 open reading frame 37 Zinc fingers C2H2-type 28 2005-11-21 2006-07-04 2006-07-04 2023-01-20 126299 ENSG00000131116 OTTHUMG00000182734 uc002oxa.4 AY257197 NM_182498 CCDS12626 Q96B54 MGI:1916463 RGD:1564862 HGNC:20804 "ENST00000300811.8|NM_182498.4" HGNC:20817 ZNF429 zinc finger protein 429 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2003-04-25 2023-01-20 353088 ENSG00000197013 OTTHUMG00000182848 uc002nqd.2 AY269786 NM_001001415 CCDS42537 Q86V71 "MGI:99205|MGI:107768|MGI:1920057|MGI:3033356|MGI:3040674|MGI:3040694|MGI:3040702|MGI:3040703|MGI:3040708|MGI:3044162" RGD:1593979 HGNC:20817 "ENST00000358491.9|NM_001001415.4" HGNC:20808 ZNF430 zinc finger protein 430 protein-coding gene gene with protein product Approved 19p12 19p12 FLJ13659 Zinc fingers C2H2-type 28 2003-04-09 2023-01-20 80264 ENSG00000118620 OTTHUMG00000182771 uc002npj.4 AK023721 NM_025189 CCDS32978 Q9H8G1 HGNC:20808 "ENST00000261560.10|NM_025189.4" HGNC:20809 ZNF431 zinc finger protein 431 protein-coding gene gene with protein product Approved 19p12 19p12 KIAA1969 Zinc fingers C2H2-type 28 2003-04-09 2023-01-20 170959 ENSG00000196705 OTTHUMG00000182835 uc002npp.3 AB075849 NM_133473 CCDS32979 Q8TF32 11853319 619505 HGNC:20809 "ENST00000311048.11|NM_133473.4" HGNC:20810 ZNF432 zinc finger protein 432 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KIAA0798 Zinc fingers C2H2-type 28 2003-04-09 2023-01-20 9668 ENSG00000256087 OTTHUMG00000182552 uc061cax.1 AB018341 NM_014650 CCDS12848 O94892 9872452 "MGI:1920860|MGI:1924450|MGI:2652824|MGI:3036263|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:20810 "ENST00000221315.10|NM_014650.4" -HGNC:20811 ZNF433 zinc finger protein 433 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ40981 Zinc fingers C2H2-type 28 2003-04-09 2023-01-20 163059 ENSG00000197647 OTTHUMG00000156427 uc002msy.2 AK098300 NM_152602 "CCDS92525|CCDS45983|CCDS92523|CCDS77240" Q8N7K0 "MGI:1920860|MGI:5591846|MGI:5592537" HGNC:20811 "ENST00000550507.7|NM_001308348.2" +HGNC:20811 ZNF433 zinc finger protein 433 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ40981 Zinc fingers C2H2-type 28 2003-04-09 2023-01-20 163059 ENSG00000197647 OTTHUMG00000156427 uc002msy.2 AK098300 NM_152602 "CCDS92525|CCDS92523|CCDS45983|CCDS77240" Q8N7K0 "MGI:1920860|MGI:5591846|MGI:5592537" HGNC:20811 "ENST00000550507.7|NM_001308348.2" HGNC:53776 ZNF433-AS1 ZNF433 and ZNF878 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 Antisense RNAs 1987 2017-11-03 2017-11-03 101928464 ENSG00000219665 OTTHUMG00000156428 NR_134927 HGNC:53776 HGNC:20814 ZNF436 zinc finger protein 436 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA1710|Zfp46" Zinc fingers C2H2-type 28 2003-04-09 2023-01-20 80818 ENSG00000125945 OTTHUMG00000003232 uc001bgu.4 AB051497 NM_030634 CCDS233 Q9C0F3 11214970 MGI:99192 RGD:1310584 611703 HGNC:20814 "ENST00000314011.9|NM_001077195.2" HGNC:25122 ZNF436-AS1 ZNF436 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 FLJ90508 C1orf213 chromosome 1 open reading frame 213 Antisense RNAs 1987 2006-08-21 2014-10-01 2014-10-01 2023-03-15 148898 ENSG00000249087 OTTHUMG00000003225 BC028411 NR_033691 Q8NC38 12477932 ZNF436-AS1 HGNC:25122 HGNC:21029 ZNF438 zinc finger protein 438 protein-coding gene gene with protein product Approved 10p11.23 10p11.23 bA330O11.1 Zinc fingers C2H2-type 28 2006-02-15 2023-01-20 220929 ENSG00000183621 OTTHUMG00000017904 uc010qdz.3 AK057323 NM_182755 "CCDS53504|CCDS44369|CCDS7168" Q7Z4V0 MGI:2444919 RGD:1307214 HGNC:21029 "ENST00000436087.7|NM_001143768.2" -HGNC:20873 ZNF439 zinc finger protein 439 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 DKFZp571K0837 Zinc fingers C2H2-type 28 2003-04-16 2023-01-20 90594 ENSG00000171291 OTTHUMG00000156527 uc002mss.4 AL833935 NM_001348718 "CCDS86705|CCDS12268|CCDS92520" Q8NDP4 HGNC:20873 "ENST00000682736.1|NM_001348719.2" +HGNC:20873 ZNF439 zinc finger protein 439 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 DKFZp571K0837 Zinc fingers C2H2-type 28 2003-04-16 2023-01-20 90594 ENSG00000171291 OTTHUMG00000156527 uc002mss.4 AL833935 NM_001348718 "CCDS12268|CCDS92520|CCDS86705" Q8NDP4 HGNC:20873 "ENST00000682736.1|NM_001348719.2" HGNC:20874 ZNF440 zinc finger protein 440 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ37933 Zinc fingers C2H2-type 28 2003-04-16 2006-08-14 2006-08-14 2023-01-20 126070 ENSG00000171295 OTTHUMG00000156403 uc002msp.2 AK095252 NM_152357 CCDS42503 Q8IYI8 HGNC:20874 "ENST00000304060.10|NM_152357.3" HGNC:20875 ZNF441 zinc finger protein 441 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ38637 Zinc fingers C2H2-type 28 2003-04-16 2023-01-20 126068 ENSG00000197044 OTTHUMG00000154449 uc010dyj.4 AK095956 NM_152355 CCDS12266 Q8N8Z8 RGD:6487604 HGNC:20875 "ENST00000357901.5|NM_152355.3" -HGNC:20877 ZNF442 zinc finger protein 442 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ14356 Zinc fingers C2H2-type 28 2003-04-16 2023-01-20 79973 ENSG00000198342 OTTHUMG00000156411 uc002mtr.2 AK024418 NM_030824 "CCDS12271|CCDS86707" Q9H7R0 "MGI:1261426|MGI:3652251|MGI:3652255|MGI:3702417|MGI:3702875|MGI:3709288|MGI:3709298|MGI:3709324|MGI:3709632|MGI:3709638|MGI:3779623|MGI:3780195|MGI:3782904|MGI:3782921" HGNC:20877 "ENST00000242804.9|NM_030824.3" +HGNC:20877 ZNF442 zinc finger protein 442 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ14356 Zinc fingers C2H2-type 28 2003-04-16 2023-01-20 79973 ENSG00000198342 OTTHUMG00000156411 uc002mtr.2 AK024418 NM_030824 "CCDS86707|CCDS12271" Q9H7R0 "MGI:1261426|MGI:3652251|MGI:3652255|MGI:3702417|MGI:3702875|MGI:3709288|MGI:3709298|MGI:3709324|MGI:3709632|MGI:3709638|MGI:3779623|MGI:3780195|MGI:3782904|MGI:3782921" HGNC:20877 "ENST00000242804.9|NM_030824.3" HGNC:20878 ZNF443 zinc finger protein 443 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 ZK1 Zinc fingers C2H2-type 28 2003-04-16 2023-01-20 10224 ENSG00000180855 OTTHUMG00000156404 uc002mtu.4 AB011414 NM_005815 CCDS32918 Q9Y2A4 9731181 "MGI:2384299|MGI:3642748" RGD:628698 606697 HGNC:20878 "ENST00000301547.10|NM_005815.5" -HGNC:16052 ZNF444 zinc finger protein 444 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZSCAN17|FLJ11137|EZF2" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-05-01 2023-01-20 55311 ENSG00000167685 OTTHUMG00000181761 uc002qmm.4 AB052954 NM_018337 "CCDS12939|CCDS59426" Q8N0Y2 "11978792|19760602" MGI:1923365 RGD:1304847 607874 HGNC:16052 "ENST00000337080.8|NM_018337.4" +HGNC:16052 ZNF444 zinc finger protein 444 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZSCAN17|FLJ11137|EZF2" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-05-01 2023-01-20 55311 ENSG00000167685 OTTHUMG00000181761 uc002qmm.4 AB052954 NM_018337 "CCDS59426|CCDS12939" Q8N0Y2 "11978792|19760602" MGI:1923365 RGD:1304847 607874 HGNC:16052 "ENST00000337080.8|NM_018337.4" HGNC:35157 ZNF444P1 zinc finger protein 444 pseudogene 1 pseudogene pseudogene Approved 15q22.1 15q22.1 ZNF864P zinc finger protein 864, pseudogene 2008-09-26 2011-04-07 2011-04-07 2021-04-27 100419866 ENSG00000259738 OTTHUMG00000171986 NG_025387 PGOHUM00000293259 HGNC:35157 HGNC:21018 ZNF445 zinc finger protein 445 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "ZKSCAN15|ZSCAN47" ZNF168 zinc finger protein 168 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-06-02 2003-10-07 2023-01-20 353274 ENSG00000185219 OTTHUMG00000133042 uc003cnf.4 AY262260 NM_181489 CCDS2713 P59923 7814019 MGI:2143340 RGD:1559144 619508 HGNC:21018 "ENST00000396077.8|NM_181489.6" HGNC:21036 ZNF446 zinc finger protein 446 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZKSCAN20|FLJ20626|ZSCAN52" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-06-02 2023-01-20 55663 ENSG00000083838 OTTHUMG00000183541 uc002qsz.4 NM_017908 CCDS12982 Q9NWS9 MGI:2442185 RGD:7612453 HGNC:21036 "ENST00000594369.6|NM_017908.4" HGNC:21039 ZNF449 zinc finger protein 449 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "ZSCAN19|FLJ23614" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-06-02 2023-01-20 203523 ENSG00000173275 OTTHUMG00000022478 uc004eys.4 AY280801 NM_152695 CCDS14649 Q6P9G9 MGI:1925869 RGD:1584453 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF449 300627 HGNC:21039 "ENST00000339249.5|NM_152695.6" -HGNC:21091 ZNF451 zinc finger protein 451 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "KIAA0576|COASTER|dJ417I1.1|KIAA1702|ZATT" zinc finger protein associated with TDP2 and TOP2 Zinc fingers C2H2-type 28 2003-05-23 2023-01-20 26036 ENSG00000112200 OTTHUMG00000014916 uc003pdn.3 AB011148 NM_015555 "CCDS4960|CCDS59026|CCDS43477" Q9Y4E5 "9628581|26524493" MGI:2137896 RGD:1305865 615708 HGNC:21091 "ENST00000370706.9|NM_001031623.3" +HGNC:21091 ZNF451 zinc finger protein 451 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "KIAA0576|COASTER|dJ417I1.1|KIAA1702|ZATT" zinc finger protein associated with TDP2 and TOP2 Zinc fingers C2H2-type 28 2003-05-23 2023-01-20 26036 ENSG00000112200 OTTHUMG00000014916 uc003pdn.3 AB011148 NM_015555 "CCDS59026|CCDS4960|CCDS43477" Q9Y4E5 "9628581|26524493" MGI:2137896 RGD:1305865 615708 HGNC:21091 "ENST00000370706.9|NM_001031623.3" HGNC:53824 ZNF451-AS1 ZNF451 regulatory antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 BC032020 Antisense RNAs 1987 2018-04-18 2018-04-18 101927211 ENSG00000226803 OTTHUMG00000014917 NR_110742 29532883 HGNC:53824 HGNC:21200 ZNF454 zinc finger protein 454 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 FLJ37444 Zinc fingers C2H2-type 28 2003-07-14 2023-01-20 285676 ENSG00000178187 OTTHUMG00000130891 uc003mjo.3 AK094763 NM_001178089 CCDS4441 Q8N9F8 MGI:2679253 RGD:7529496 HGNC:21200 "ENST00000519564.2|NM_001178089.3" HGNC:55213 ZNF454-DT ZNF454 divergent transcript non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 TCONS_00009823 Divergent transcripts 1990 2020-08-21 2020-08-21 118568820 ENSG00000272431 -HGNC:21628 ZNF460 zinc finger protein 460 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 HZF8 ZNF272 zinc finger protein 272 Zinc fingers C2H2-type 28 2006-06-28 2023-01-20 10794 ENSG00000197714 OTTHUMG00000183222 uc002qog.3 X78931 NM_006635 "CCDS12949|CCDS82404" Q14592 15004467 604755 HGNC:21628 "ENST00000360338.4|NM_006635.4" +HGNC:21628 ZNF460 zinc finger protein 460 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 HZF8 ZNF272 zinc finger protein 272 Zinc fingers C2H2-type 28 2006-06-28 2023-01-20 10794 ENSG00000197714 OTTHUMG00000183222 uc002qog.3 X78931 NM_006635 "CCDS82404|CCDS12949" Q14592 15004467 604755 HGNC:21628 "ENST00000360338.4|NM_006635.4" HGNC:53774 ZNF460-AS1 ZNF460 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Antisense RNAs 1987 2017-11-03 2017-11-03 105372476 ENSG00000267871 OTTHUMG00000183221 NR_136528 HGNC:53774 HGNC:21629 ZNF461 zinc finger protein 461 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 "GIOT-1|MGC33911" Zinc fingers C2H2-type 28 2006-06-28 2023-01-20 92283 ENSG00000197808 OTTHUMG00000180832 uc002oem.4 BX649031 NM_153257 "CCDS74348|CCDS54257" Q8TAF7 "11579202|15004467" 608640 HGNC:21629 "ENST00000588268.6|NM_153257.5" HGNC:21684 ZNF462 zinc finger protein 462 protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "DKFZP762N2316|KIAA1803|Zfp462" Zinc fingers C2H2-type 28 2004-01-05 2023-01-20 58499 ENSG00000148143 OTTHUMG00000020438 uc004bcz.4 AB058706 NM_021224 CCDS35096 Q96JM2 MGI:107690 RGD:1562123 617371 HGNC:21684 "ENST00000277225.10|NM_021224.6" HGNC:21684 HGNC:23154 ZNF467 zinc finger protein 467 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "EZI|Zfp467" Zinc fingers C2H2-type 28 2004-11-03 2023-01-20 168544 ENSG00000181444 OTTHUMG00000157883 uc003wgd.3 BC029296 NM_207336 "CCDS5899|CCDS87563" Q7Z7K2 12426389 MGI:1916160 RGD:1561603 614040 HGNC:23154 "ENST00000302017.4|NM_207336.3" -HGNC:33105 ZNF468 zinc finger protein 468 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 Zinc fingers C2H2-type 28 2006-08-11 2023-03-15 90333 ENSG00000204604 OTTHUMG00000182687 uc002qaf.4 AK023558 NM_001008801 "CCDS62781|CCDS33094" Q5VIY5 16144304 616841 HGNC:33105 "ENST00000595646.6|NM_001008801.2" +HGNC:33105 ZNF468 zinc finger protein 468 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 Zinc fingers C2H2-type 28 2006-08-11 2023-03-15 90333 ENSG00000204604 OTTHUMG00000182687 uc002qaf.4 AK023558 NM_001008801 "CCDS33094|CCDS62781" Q5VIY5 16144304 616841 HGNC:33105 "ENST00000595646.6|NM_001008801.2" HGNC:23216 ZNF469 zinc finger protein 469 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "KIAA1858|Zfp469" Zinc fingers C2H2-type 28 2003-10-15 2023-03-15 84627 ENSG00000225614 OTTHUMG00000173151 uc002fku.2 AB058761 NM_001367624 CCDS92205 Q96JG9 11347906 MGI:2684868 RGD:1583874 612078 159463 HGNC:23216 "ENST00000565624.3|NM_001367624.2" HGNC:23216 HGNC:22220 ZNF470 zinc finger protein 470 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "CZF-1|FLJ26175" Zinc fingers C2H2-type 28 2006-05-12 2023-01-20 388566 ENSG00000197016 OTTHUMG00000182141 uc002qnl.5 AK129686 NM_001001668 CCDS33122 Q6ECI4 15302581 RGD:11436011 HGNC:22220 "ENST00000330619.13|NM_001001668.4" HGNC:55272 ZNF470-DT ZNF470 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Divergent transcripts 1990 2020-10-01 2020-10-01 112268241 ENSG00000269696 XM_047439806 @@ -43227,40 +43229,40 @@ HGNC:23245 ZNF474 zinc finger protein 474 protein-coding gene gene with protein HGNC:41019 ZNF474-AS1 ZNF474 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Antisense RNAs 1987 2020-04-16 2020-04-16 107986445 ENSG00000249610 OTTHUMG00000162971 XR_007058915 HGNC:53564 ZNF475 zinc finger protein 475 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 2023-05-26 2023-05-26 100505841 ENSG00000250803 OTTHUMG00000162972 NM_001195535 CCDS93768 MGI:1925664 RGD:1564428 HGNC:23258 ZNF479 zinc finger protein 479 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 KR19 Zinc fingers C2H2-type 28 2003-10-31 2023-01-20 90827 ENSG00000185177 OTTHUMG00000156682 uc010kzo.4 AF277624 NM_033273 CCDS43590 Q96JC4 11410164 617444 HGNC:23258 "ENST00000319636.10|NM_001370129.2" -HGNC:23305 ZNF480 zinc finger protein 480 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 MGC32104 Zinc fingers C2H2-type 28 2004-07-15 2023-01-20 147657 ENSG00000198464 OTTHUMG00000157507 uc010ydl.3 AY512662 NM_144684 "CCDS77346|CCDS74437|CCDS12850" Q8WV37 15219843 613910 HGNC:23305 "ENST00000595962.6|NM_144684.4" +HGNC:23305 ZNF480 zinc finger protein 480 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 MGC32104 Zinc fingers C2H2-type 28 2004-07-15 2023-01-20 147657 ENSG00000198464 OTTHUMG00000157507 uc010ydl.3 AY512662 NM_144684 "CCDS12850|CCDS77346|CCDS74437" Q8WV37 15219843 613910 HGNC:23305 "ENST00000595962.6|NM_144684.4" HGNC:23384 ZNF483 zinc finger protein 483 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "ZKSCAN16|KIAA1962|ZSCAN48" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-11-14 2023-01-20 158399 ENSG00000173258 OTTHUMG00000020490 uc004bff.4 AB075842 NM_133464 "CCDS35105|CCDS35106" Q8TF39 MGI:3510405 RGD:727958 HGNC:23384 "ENST00000309235.6|NM_133464.5" HGNC:23385 ZNF484 zinc finger protein 484 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "BA526D8.4|FLJ33884" Zinc fingers C2H2-type 28 2004-08-25 2023-01-20 83744 ENSG00000127081 OTTHUMG00000020236 uc004asu.3 AK091203 NM_031486 "CCDS35067|CCDS35066|CCDS59136" Q5JVG2 HGNC:23385 "ENST00000375495.8|NM_031486.4" HGNC:23440 ZNF485 zinc finger protein 485 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 Zinc fingers C2H2-type 28 2004-02-20 2023-01-20 220992 ENSG00000198298 OTTHUMG00000018040 uc010qfc.3 AK074679 NM_145312 CCDS7205 Q8NCK3 HGNC:23440 "ENST00000361807.8|NM_145312.4" HGNC:20807 ZNF486 zinc finger protein 486 protein-coding gene gene with protein product Approved 19p12 19p12 MGC2396 KRBO2 KRAB domain only 2 Zinc fingers C2H2-type 28 2003-11-20 2003-12-17 2003-12-16 2023-01-20 90649 ENSG00000256229 OTTHUMG00000179731 uc002nou.4 BC008936 NM_052852 CCDS46029 Q96H40 "MGI:1918758|MGI:3701121" HGNC:20807 "ENST00000335117.9|NM_052852.4" HGNC:23488 ZNF487 zinc finger protein 487 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "KRBO1|ZNF487P" "KRAB domain only 1|zinc finger protein 487, pseudogene" Zinc fingers C2H2-type 28 2006-02-10 2013-03-06 2013-03-06 2023-01-20 642819 ENSG00000243660 OTTHUMG00000185507 uc057swm.1 NM_001355444.1 CCDS86084 B1APH4 RGD:2318893 HGNC:23488 "ENST00000437590.4|NM_001355444.3" HGNC:23535 ZNF488 zinc finger protein 488 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 FLJ32104 Zinc fingers C2H2-type 28 2003-11-21 2023-01-20 118738 ENSG00000265763 OTTHUMG00000188322 uc001jex.3 AK056666 NM_153034 CCDS73120 Q96MN9 MGI:2686052 RGD:1309835 HGNC:23535 "ENST00000585316.3|NM_153034.4" -HGNC:23705 ZNF490 zinc finger protein 490 protein-coding gene gene with protein product Approved 19p13.2-p13.13 19p13.2-p13.13 KIAA1198 Zinc fingers C2H2-type 28 2003-12-02 2023-01-20 57474 ENSG00000188033 OTTHUMG00000156398 uc002mtz.3 AB033024 NM_020714 CCDS12272 Q9ULM2 "MGI:1919389|MGI:1924053|MGI:2385298|MGI:2675306|MGI:3584369|MGI:3642994|MGI:3644409|MGI:3644476|MGI:3652325|MGI:3809656" RGD:1642427 620118 HGNC:23705 "ENST00000311437.11|NM_020714.3" +HGNC:23705 ZNF490 zinc finger protein 490 protein-coding gene gene with protein product Approved 19p13.2-p13.13 19p13.2-p13.13 KIAA1198 Zinc fingers C2H2-type 28 2003-12-02 2023-01-20 57474 ENSG00000188033 OTTHUMG00000156398 uc002mtz.3 AB033024 NM_020714 CCDS12272 Q9ULM2 "MGI:1919389|MGI:1924053|MGI:2385298|MGI:2675306|MGI:3584369|MGI:3642994|MGI:3644409|MGI:3644476|MGI:3652325|MGI:3809656" 620118 HGNC:23705 "ENST00000311437.11|NM_020714.3" HGNC:23706 ZNF491 zinc finger protein 491 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ34791 Zinc fingers C2H2-type 28 2003-12-02 2023-01-20 126069 ENSG00000177599 OTTHUMG00000156529 uc002mso.2 AK092110 NM_152356 CCDS12267 Q8N8L2 HGNC:23706 "ENST00000323169.10|NM_152356.4" HGNC:23707 ZNF492 zinc finger protein 492 protein-coding gene gene with protein product Approved 19p12 19p12 KIAA1473 ZNF115 zinc finger protein 115 (Y20) Zinc fingers C2H2-type 28 2003-12-02 2023-01-20 57615 ENSG00000229676 OTTHUMG00000182987 uc002nqw.3 AB040906 NM_020855 CCDS46032 Q9P255 10819331 620124 HGNC:23707 "ENST00000456783.3|NM_020855.3" -HGNC:23708 ZNF493 zinc finger protein 493 protein-coding gene gene with protein product Approved 19p12 19p12 FLJ36504 Zinc fingers C2H2-type 28 2003-12-02 2023-01-20 284443 ENSG00000196268 OTTHUMG00000141297 uc002npw.4 "AK093823|BC006408|BC022394" NM_175910 "CCDS12411|CCDS42536|CCDS12412" Q6ZR52 "MGI:99156|MGI:1920860|MGI:1924450|MGI:2652824|MGI:2664334|MGI:3036263|MGI:3040707|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:23708 "ENST00000392288.7|NM_001076678.3" +HGNC:23708 ZNF493 zinc finger protein 493 protein-coding gene gene with protein product Approved 19p12 19p12 FLJ36504 Zinc fingers C2H2-type 28 2003-12-02 2023-01-20 284443 ENSG00000196268 OTTHUMG00000141297 uc002npw.4 "AK093823|BC006408|BC022394" NM_175910 "CCDS42536|CCDS12411|CCDS12412" Q6ZR52 "MGI:99156|MGI:1920860|MGI:1924450|MGI:2652824|MGI:2664334|MGI:3036263|MGI:3040707|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:23708 "ENST00000392288.7|NM_001076678.3" HGNC:23713 ZNF496 zinc finger protein 496 protein-coding gene gene with protein product Approved 1q44 01q44 "ZKSCAN17|MGC15548|ZSCAN49" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2023-01-20 84838 ENSG00000162714 OTTHUMG00000041164 uc001ico.4 BC007263 NM_032752 CCDS1631 Q96IT1 30012466 MGI:2679270 RGD:1304611 613911 HGNC:23713 "ENST00000682384.1|NM_032752.3" HGNC:55991 ZNF496-DT ZNF496 divergent transcript non-coding RNA RNA, long non-coding Approved 1q44 01q44 XLOC_000647 Divergent transcripts 1990 2021-11-15 2021-11-15 107985115 ENSG00000289234 NR_168399 29386037 HGNC:23714 ZNF497 zinc finger protein 497 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ44773 Zinc fingers C2H2-type 28 2003-12-03 2023-01-20 162968 ENSG00000174586 OTTHUMG00000183510 uc002qsh.3 AK126727 NM_198458 CCDS12977 Q6ZNH5 HGNC:23714 "ENST00000311044.8|NM_198458.3" HGNC:55277 ZNF497-AS1 ZNF497 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Antisense RNAs 1987 2020-10-06 2020-10-06 105372483 ENSG00000269054 NR_136527 -HGNC:23716 ZNF500 zinc finger protein 500 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ZKSCAN18|KIAA0557|ZSCAN50" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2023-01-20 26048 ENSG00000103199 OTTHUMG00000176543 uc002cxp.2 AB011129 NM_021646 "CCDS32383|CCDS76814" O60304 9628581 HGNC:23716 "ENST00000219478.11|NM_021646.4" +HGNC:23716 ZNF500 zinc finger protein 500 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ZKSCAN18|KIAA0557|ZSCAN50" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2023-01-20 26048 ENSG00000103199 OTTHUMG00000176543 uc002cxp.2 AB011129 NM_021646 "CCDS76814|CCDS32383" O60304 9628581 HGNC:23716 "ENST00000219478.11|NM_021646.4" HGNC:23717 ZNF501 zinc finger protein 501 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC21738 ZNF52 zinc finger protein 52 Zinc fingers C2H2-type 28 2003-12-03 2023-01-20 115560 ENSG00000186446 OTTHUMG00000133048 uc003cnu.3 BC013762 NM_145044 CCDS2720 Q96CX3 1505991 HGNC:23717 "ENST00000620116.5|NM_001258280.2" HGNC:23718 ZNF502 zinc finger protein 502 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ14855|FLJ12515" Zinc fingers C2H2-type 28 2003-12-03 2023-01-20 91392 ENSG00000196653 OTTHUMG00000133086 uc011bab.3 AK022577 NM_033210 CCDS2719 Q8TBZ5 MGI:3033356 RGD:6494479 HGNC:23718 "ENST00000436624.7|NM_001134442.3" HGNC:23589 ZNF503 zinc finger protein 503 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "FLJ45745|MGC2555|Nlz2" Zinc fingers C2H2-type 28 2003-12-04 2023-01-20 84858 ENSG00000165655 OTTHUMG00000018526 uc001jxg.4 AK127647 NM_032772 CCDS7350 Q96F45 19014486 MGI:1353644 RGD:1312018 613902 HGNC:23589 "ENST00000372524.5|NM_032772.6" HGNC:27370 ZNF503-AS1 ZNF503 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 ZNF503 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-11 2012-08-15 2018-09-13 253264 ENSG00000226051 OTTHUMG00000018524 uc057ugr.1 NR_038223 28880276 ZNF503-AS1 HGNC:27370 HGNC:23525 ZNF503-AS2 ZNF503 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 "C10orf41|NCRNA00245" "chromosome 10 open reading frame 41|non-protein coding RNA 245|ZNF503 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-08-11 2012-08-15 2016-10-05 100131213 ENSG00000237149 OTTHUMG00000018528 uc010qlf.3 BC029963 NR_024422 A6NEH8 ZNF503-AS2 HGNC:23525 -HGNC:23780 ZNF506 zinc finger protein 506 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 DKFZp761G1812 Zinc fingers C2H2-type 28 2003-12-10 2023-01-20 440515 ENSG00000081665 OTTHUMG00000182367 uc060wcw.1 AK095575 NM_001099269 "CCDS42531|CCDS46027" Q5JVG8 "MGI:1918758|MGI:3701121" HGNC:23780 "ENST00000540806.7|NM_001099269.3" +HGNC:23780 ZNF506 zinc finger protein 506 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 DKFZp761G1812 Zinc fingers C2H2-type 28 2003-12-10 2023-01-20 440515 ENSG00000081665 OTTHUMG00000182367 uc060wcw.1 AK095575 NM_001099269 "CCDS46027|CCDS42531" Q5JVG8 "MGI:1918758|MGI:3701121" HGNC:23780 "ENST00000540806.7|NM_001099269.3" HGNC:23783 ZNF507 zinc finger protein 507 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "KIAA1084|Zfp507" Zinc fingers C2H2-type 28 2003-12-10 2023-01-20 22847 ENSG00000168813 OTTHUMG00000180220 uc002ntd.4 AB029007 NM_014910 CCDS32985 Q8TCN5 MGI:1916378 RGD:1307017 HGNC:23783 "ENST00000355898.6|NM_001136156.2" HGNC:29161 ZNF510 zinc finger protein 510 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 KIAA0972 Zinc fingers C2H2-type 28 2003-12-19 2023-01-20 22869 ENSG00000081386 OTTHUMG00000020303 uc004awo.1 AB023189 NM_014930 CCDS35074 Q9Y2H8 10231032 619385 HGNC:29161 "ENST00000223428.9|NM_014930.3" HGNC:28445 ZNF511 zinc finger protein 511 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "MGC30006|Zfp511" Zinc fingers C2H2-type 28 2003-12-19 2023-01-20 118472 ENSG00000198546 OTTHUMG00000019317 uc001lmj.2 AK091711 NM_145806 CCDS7677 Q8NB15 21540836 MGI:1917002 RGD:1308585 HGNC:28445 "ENST00000361518.10|NM_145806.4" HGNC:38088 ZNF511-PRAP1 ZNF511-PRAP1 readthrough other readthrough Approved 10q26.3 10q26.3 2012-06-27 2017-10-25 104326056 ENSG00000283496 OTTHUMG00000191874 NM_001396060 21540836 -HGNC:29380 ZNF512 zinc finger protein 512 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 KIAA1805 Zinc fingers C2H2-type 28 2003-12-19 2023-01-20 84450 ENSG00000243943 OTTHUMG00000097786 uc002rla.5 AL833748 NM_032434 "CCDS59428|CCDS1758|CCDS59429" Q96ME7 11347906 MGI:1917345 RGD:1561526 HGNC:29380 "ENST00000355467.6|NM_032434.4" +HGNC:29380 ZNF512 zinc finger protein 512 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 KIAA1805 Zinc fingers C2H2-type 28 2003-12-19 2023-01-20 84450 ENSG00000243943 OTTHUMG00000097786 uc002rla.5 AL833748 NM_032434 "CCDS1758|CCDS59428|CCDS59429" Q96ME7 11347906 MGI:1917345 RGD:1561526 HGNC:29380 "ENST00000355467.6|NM_032434.4" HGNC:29212 ZNF512B zinc finger protein 512B protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "GM632|MGC149845|MGC149846" Zinc fingers C2H2-type 28 2007-03-20 2023-01-20 57473 ENSG00000196700 OTTHUMG00000033008 uc061yqm.1 AB033022 NM_020713 CCDS13548 Q96KM6 10574462 MGI:2685478 RGD:1305284 617886 HGNC:29212 "ENST00000369888.6|NM_020713.3" HGNC:26498 ZNF513 zinc finger protein 513 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ32203|RP58|Zfp513" Zinc fingers C2H2-type 28 2003-12-19 2023-01-20 130557 ENSG00000163795 OTTHUMG00000097783 uc002rkk.4 AL833946 NM_144631 "CCDS56114|CCDS1751" Q8N8E2 20797688 MGI:2141255 RGD:1310456 613598 239967 HGNC:26498 "ENST00000323703.11|NM_144631.6" HGNC:26498 HGNC:25894 ZNF514 zinc finger protein 514 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 FLJ14457 Zinc fingers C2H2-type 28 2003-12-19 2023-01-20 84874 ENSG00000144026 OTTHUMG00000130391 uc061lsz.1 AL832263 NM_032788 CCDS2011 Q96K75 HGNC:25894 "ENST00000295208.7|NM_032788.3" HGNC:28990 ZNF516 zinc finger protein 516 protein-coding gene gene with protein product Approved 18q23 18q23 "HsT287|KIAA0222" Zinc fingers C2H2-type 28 2004-01-08 2015-11-03 2015-11-03 2023-01-20 9658 ENSG00000101493 OTTHUMG00000165995 uc032hhr.2 D86975 NM_014643 CCDS74234 Q92618 9039502 MGI:2443957 RGD:1306817 615114 HGNC:28990 "ENST00000443185.7|NM_014643.4" HGNC:55324 ZNF516-AS1 ZNF516 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q23 18q23 Antisense RNAs 1987 2020-10-21 2020-10-21 101927989 ENSG00000265778 NR_136504 HGNC:51248 ZNF516-DT ZNF516 divergent transcript non-coding RNA RNA, long non-coding Approved 18q23 18q23 C18orf65 chromosome 18 open reading frame 65 Divergent transcripts 1990 2014-09-17 2019-10-04 2019-10-04 2023-03-15 400658 ENSG00000275763 OTTHUMG00000165996 NR_164145 Q6ZTR6 HGNC:51248 -HGNC:27984 ZNF517 zinc finger protein 517 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 Zinc fingers C2H2-type 28 2004-01-06 2023-01-20 340385 ENSG00000197363 OTTHUMG00000165199 uc003zed.1 AK096527 NM_213605 "CCDS6434|CCDS94367" Q6ZMY9 HGNC:27984 "ENST00000359971.4|NM_213605.3" +HGNC:27984 ZNF517 zinc finger protein 517 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 Zinc fingers C2H2-type 28 2004-01-06 2023-01-20 340385 ENSG00000197363 OTTHUMG00000165199 uc003zed.1 AK096527 NM_213605 "CCDS94367|CCDS6434" Q6ZMY9 HGNC:27984 "ENST00000359971.4|NM_213605.3" HGNC:29009 ZNF518A zinc finger protein 518A protein-coding gene gene with protein product Approved 10q24.1 10q24.1 KIAA0335 ZNF518 zinc finger protein 518 Zinc fingers C2H2-type 28 2004-05-27 2007-12-07 2007-12-07 2023-01-20 9849 ENSG00000177853 OTTHUMG00000018828 uc031wpn.2 AB002333 NM_014803 CCDS73170 Q6AHZ1 9205841 MGI:1919922 RGD:1305314 617733 HGNC:29009 "ENST00000316045.10|NM_001330736.2" HGNC:29365 ZNF518B zinc finger protein 518B protein-coding gene gene with protein product Approved 4p16.1 04p16.1 KIAA1729 Zinc fingers C2H2-type 28 2007-12-07 2023-01-20 85460 ENSG00000178163 OTTHUMG00000160060 uc003gmn.4 AB051516 NM_053042 CCDS33960 Q9C0D4 11214970 MGI:2140750 RGD:1564150 617734 HGNC:29365 "ENST00000326756.4|NM_053042.3" HGNC:29365 HGNC:30574 ZNF519 zinc finger protein 519 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "HsT2362|FLJ36809" similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1) Zinc fingers C2H2-type 28 2004-01-15 2023-01-20 162655 ENSG00000175322 OTTHUMG00000182055 uc002kst.3 BC024227 NM_145287 CCDS32797 Q8TB69 12477932 MGI:1930708 RGD:2985 HGNC:30574 "ENST00000590202.3|NM_145287.4" @@ -43268,7 +43270,7 @@ HGNC:50785 ZNF519P1 zinc finger protein 519 pseudogene 1 pseudogene pseudogene A HGNC:50786 ZNF519P2 zinc finger protein 519 pseudogene 2 pseudogene pseudogene Approved 15q11.2 15q11.2 2014-06-18 2014-06-18 100287908 ENSG00000258799 OTTHUMG00000171707 NG_022098 PGOHUM00000246629 HGNC:50786 HGNC:50787 ZNF519P3 zinc finger protein 519 pseudogene 3 pseudogene pseudogene Approved 15q11.2 15q11.2 2014-06-18 2014-06-18 100288042 ENSG00000258585 OTTHUMG00000171729 NG_022099 PGOHUM00000246641 HGNC:50787 HGNC:50788 ZNF519P4 zinc finger protein 519 pseudogene 4 pseudogene pseudogene Approved 4p16.3 04p16.3 2014-06-18 2014-06-18 106481981 ENSG00000249025 OTTHUMG00000159864 NG_045048 PGOHUM00000263501 HGNC:50788 -HGNC:24605 ZNF521 zinc finger protein 521 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "EHZF|Evi3" early hematopoietic zinc finger Zinc fingers C2H2-type 28 2004-04-05 2023-01-20 25925 ENSG00000198795 OTTHUMG00000179511 uc002kvk.3 AK027354 NM_015461 "CCDS32806|CCDS77167" Q96K83 "11984006|14630787" MGI:95459 RGD:1307345 ZNF521 610974 HGNC:24605 "ENST00000361524.8|NM_015461.3" +HGNC:24605 ZNF521 zinc finger protein 521 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "EHZF|Evi3" early hematopoietic zinc finger Zinc fingers C2H2-type 28 2004-04-05 2023-01-20 25925 ENSG00000198795 OTTHUMG00000179511 uc002kvk.3 AK027354 NM_015461 "CCDS77167|CCDS32806" Q96K83 "11984006|14630787" MGI:95459 RGD:1307345 ZNF521 610974 HGNC:24605 "ENST00000361524.8|NM_015461.3" HGNC:28322 ZNF524 zinc finger protein 524 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC23143 Zinc fingers C2H2-type 28 2004-02-02 2023-01-20 147807 ENSG00000171443 OTTHUMG00000180859 uc002qlk.2 BC014666 NM_153219 CCDS12929 Q96C55 12477932 MGI:1916740 RGD:1565485 HGNC:28322 "ENST00000301073.4|NM_153219.4" HGNC:29423 ZNF525 zinc finger protein 525 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 KIAA1979 Zinc fingers C2H2-type 28 2004-02-02 2023-01-20 170958 ENSG00000203326 OTTHUMG00000158277 uc061cjl.1 AB075859 NM_001348156 "CCDS86803|CCDS86802" Q8N782 11853319 HGNC:29423 "ENST00000474037.6|NM_001348156.2" HGNC:29415 ZNF526 zinc finger protein 526 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "KIAA1951|MGC4267" Zinc fingers C2H2-type 28 2004-02-02 2023-01-20 116115 ENSG00000167625 OTTHUMG00000182785 uc002osz.2 AB075831 NM_133444 CCDS12598 Q8TF50 11853319 MGI:2445181 RGD:1588959 614387 471362 HGNC:29415 "ENST00000301215.8|NM_133444.3" @@ -43277,47 +43279,47 @@ HGNC:29384 ZNF528 zinc finger protein 528 protein-coding gene gene with protein HGNC:51305 ZNF528-AS1 ZNF528 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2014-09-26 2014-09-26 102724105 ENSG00000269834 OTTHUMG00000182646 NR_125345 ZNF528-AS1 HGNC:51305 HGNC:29328 ZNF529 zinc finger protein 529 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 KIAA1615 Zinc fingers C2H2-type 28 2004-02-02 2023-01-20 57711 ENSG00000186020 OTTHUMG00000180714 uc002oeh.5 AK025110 NM_020951 "CCDS54256|CCDS82335" Q6P280 10997877 HGNC:29328 "ENST00000591340.6|NM_020951.5" HGNC:51275 ZNF529-AS1 ZNF529 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Antisense RNAs 1987 2014-08-22 2014-08-22 101927599 ENSG00000233527 OTTHUMG00000048152 NR_110705 ZNF529-AS1 HGNC:51275 -HGNC:29297 ZNF530 zinc finger protein 530 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 KIAA1508 Zinc fingers C2H2-type 28 2004-02-02 2023-01-20 348327 ENSG00000183647 OTTHUMG00000183469 uc002qpk.3 AK096831 NM_020880 "CCDS12955|CCDS92698" Q6P9A1 10819331 HGNC:29297 "ENST00000597700.6|NM_001321981.2" +HGNC:29297 ZNF530 zinc finger protein 530 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 KIAA1508 Zinc fingers C2H2-type 28 2004-02-02 2023-01-20 348327 ENSG00000183647 OTTHUMG00000183469 uc002qpk.3 AK096831 NM_020880 "CCDS92698|CCDS12955" Q6P9A1 10819331 HGNC:29297 "ENST00000597700.6|NM_001321981.2" HGNC:30940 ZNF532 zinc finger protein 532 protein-coding gene gene with protein product Approved 18q21.32 18q21.32 FLJ10697 Zinc fingers C2H2-type 28 2004-02-03 2023-01-20 55205 ENSG00000074657 OTTHUMG00000132759 uc002lho.4 AB046849 NM_018181 CCDS11969 Q9HCE3 10997877 MGI:3036282 RGD:1311719 619066 HGNC:30940 "ENST00000591808.6|NM_001375912.1" -HGNC:26337 ZNF534 zinc finger protein 534 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ25344 KRBO3 KRAB domain only 3 Zinc fingers C2H2-type 28 2004-02-02 2004-02-11 2004-02-06 2023-01-20 147658 ENSG00000198633 OTTHUMG00000156493 uc002pzk.4 AK058073 NM_182512 "CCDS77348|CCDS46166|CCDS46165|CCDS77347" Q76KX8 HGNC:26337 "ENST00000433050.6|NM_001143938.3" -HGNC:29025 ZNF536 zinc finger protein 536 protein-coding gene gene with protein product Approved 19q12 19q12 KIAA0390 Zinc fingers C2H2-type 28 2004-02-09 2023-01-20 9745 ENSG00000198597 OTTHUMG00000182112 uc002nsu.2 NM_014717 "CCDS92576|CCDS32984|CCDS92577" O15090 9205841 MGI:1926102 RGD:1563363 618037 HGNC:29025 "ENST00000355537.4|NM_014717.3" +HGNC:26337 ZNF534 zinc finger protein 534 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ25344 KRBO3 KRAB domain only 3 Zinc fingers C2H2-type 28 2004-02-02 2004-02-11 2004-02-06 2023-01-20 147658 ENSG00000198633 OTTHUMG00000156493 uc002pzk.4 AK058073 NM_182512 "CCDS46166|CCDS77348|CCDS77347|CCDS46165" Q76KX8 HGNC:26337 "ENST00000433050.6|NM_001143938.3" +HGNC:29025 ZNF536 zinc finger protein 536 protein-coding gene gene with protein product Approved 19q12 19q12 KIAA0390 Zinc fingers C2H2-type 28 2004-02-09 2023-01-20 9745 ENSG00000198597 OTTHUMG00000182112 uc002nsu.2 NM_014717 "CCDS92576|CCDS92577|CCDS32984" O15090 9205841 MGI:1926102 RGD:1563363 618037 HGNC:29025 "ENST00000355537.4|NM_014717.3" HGNC:25331 ZNF540 zinc finger protein 540 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 DKFZp547B0714 Zinc fingers C2H2-type 28 2004-02-12 2023-03-15 163255 ENSG00000171817 OTTHUMG00000182053 uc002ogq.5 AL832315 NM_152606 CCDS54258 Q8NDQ6 613903 HGNC:25331 "ENST00000316433.9|NM_001172225.3" HGNC:25294 ZNF541 zinc finger protein 541 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 DKFZp434I1930 "Zinc fingers C2H2-type|Myb/SANT domain containing" "28|532" 2004-02-12 2023-03-15 84215 ENSG00000118156 OTTHUMG00000141262 uc002phg.5 AL136846 NM_032255 CCDS46133 Q9H0D2 "11230166|34075040" MGI:3647699 RGD:1310756 619942 HGNC:25294 "ENST00000391901.8|NM_001277075.3" HGNC:25294 HGNC:25393 ZNF542P zinc finger protein 542, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 DKFZp686B2197 ZNF542 zinc finger protein 542 Zinc fingers C2H2-type 28 2004-02-12 2014-03-20 2014-03-20 2023-03-15 147947 ENSG00000240225 OTTHUMG00000140382 AL833621 NR_003127 Q5EBM4 HGNC:25393 HGNC:25281 ZNF543 zinc finger protein 543 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 DKFZp434H055 Zinc fingers C2H2-type 28 2004-02-12 2023-01-20 125919 ENSG00000178229 OTTHUMG00000183243 uc002qoi.3 AL834534 NM_213598 CCDS33130 Q08ER8 616847 HGNC:25281 "ENST00000321545.5|NM_213598.4" -HGNC:16759 ZNF544 zinc finger protein 544 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 AF020591 zinc finger protein AF020591 Zinc fingers C2H2-type 28 2004-02-12 2023-01-20 27300 ENSG00000198131 OTTHUMG00000183458 uc061dqu.1 AF020591 NM_014480 "CCDS82413|CCDS92701|CCDS12973|CCDS82412|CCDS92700|CCDS82411" Q6NX49 "MGI:99173|MGI:3652002|MGI:3652251" 471364 HGNC:16759 "ENST00000687789.1|NM_014480.4" -HGNC:28671 ZNF546 zinc finger protein 546 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MGC43537 ZNF49 Zinc fingers C2H2-type 28 2004-02-13 2023-01-20 339327 ENSG00000187187 OTTHUMG00000182578 uc002oms.3 BC045649 NM_178544 "CCDS77297|CCDS12548" Q86UE3 12477932 MGI:99156 RGD:2324824 HGNC:28671 "ENST00000347077.9|NM_178544.5" +HGNC:16759 ZNF544 zinc finger protein 544 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 AF020591 zinc finger protein AF020591 Zinc fingers C2H2-type 28 2004-02-12 2023-01-20 27300 ENSG00000198131 OTTHUMG00000183458 uc061dqu.1 AF020591 NM_014480 "CCDS82411|CCDS12973|CCDS82413|CCDS92701|CCDS92700|CCDS82412" Q6NX49 "MGI:99173|MGI:3652002|MGI:3652251" 471364 HGNC:16759 "ENST00000687789.1|NM_014480.4" +HGNC:28671 ZNF546 zinc finger protein 546 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MGC43537 ZNF49 Zinc fingers C2H2-type 28 2004-02-13 2023-01-20 339327 ENSG00000187187 OTTHUMG00000182578 uc002oms.3 BC045649 NM_178544 "CCDS12548|CCDS77297" Q86UE3 12477932 MGI:99156 RGD:2324824 HGNC:28671 "ENST00000347077.9|NM_178544.5" HGNC:26432 ZNF547 zinc finger protein 547 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ31100 Zinc fingers C2H2-type 28 2004-02-13 2023-01-20 284306 ENSG00000152433 OTTHUMG00000183246 uc002qol.4 AK055662 NM_173631 CCDS33131 Q8IVP9 HGNC:26432 "ENST00000282282.4|NM_173631.4" -HGNC:26561 ZNF548 zinc finger protein 548 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ32932 Zinc fingers C2H2-type 28 2004-02-13 2023-01-20 147694 ENSG00000188785 OTTHUMG00000183281 uc002qom.5 AK057494 NM_152909 "CCDS54324|CCDS46209" Q8NEK5 12477932 HGNC:26561 "ENST00000336128.12|NM_001172773.2" -HGNC:26632 ZNF549 zinc finger protein 549 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ34917 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 256051 ENSG00000121406 OTTHUMG00000183465 uc002qpa.3 AK092236 NM_153263 "CCDS12952|CCDS56106" Q6P9A3 12477932 HGNC:26632 "ENST00000376233.8|NM_001199295.2" +HGNC:26561 ZNF548 zinc finger protein 548 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ32932 Zinc fingers C2H2-type 28 2004-02-13 2023-01-20 147694 ENSG00000188785 OTTHUMG00000183281 uc002qom.5 AK057494 NM_152909 "CCDS46209|CCDS54324" Q8NEK5 12477932 HGNC:26561 "ENST00000336128.12|NM_001172773.2" +HGNC:26632 ZNF549 zinc finger protein 549 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ34917 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 256051 ENSG00000121406 OTTHUMG00000183465 uc002qpa.3 AK092236 NM_153263 "CCDS56106|CCDS12952" Q6P9A3 12477932 HGNC:26632 "ENST00000376233.8|NM_001199295.2" HGNC:28643 ZNF550 zinc finger protein 550 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC41917 Zinc fingers C2H2-type 28 2004-02-15 2023-03-15 162972 ENSG00000251369 OTTHUMG00000133709 uc002qpd.4 AL833214 NM_153231 CCDS35500 Q7Z398 12477932 HGNC:28643 "ENST00000699333.1|NM_001397372.1" HGNC:25108 ZNF551 zinc finger protein 551 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 DKFZp686H1038 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 90233 ENSG00000204519 OTTHUMG00000183470 uc002qpw.6 BX538151 NM_138347 CCDS12959 Q7Z340 MGI:3588205 RGD:1592780 HGNC:25108 "ENST00000282296.10|NM_138347.5" HGNC:26135 ZNF552 zinc finger protein 552 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ21603 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 79818 ENSG00000178935 OTTHUMG00000183478 uc002qqg.3 AK097041 NM_024762 CCDS12963 Q9H707 HGNC:26135 "ENST00000391701.1|NM_024762.3" HGNC:26629 ZNF554 zinc finger protein 554 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ34817 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 115196 ENSG00000172006 OTTHUMG00000180493 uc002lwm.3 AK027860 NM_152303 CCDS42462 Q86TJ5 12477932 HGNC:26629 "ENST00000317243.10|NM_001102651.2" -HGNC:28382 ZNF555 zinc finger protein 555 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC26707 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 148254 ENSG00000186300 OTTHUMG00000180500 uc002lwo.4 AL832140 NM_152791 "CCDS59329|CCDS12096" Q8NEP9 26184877 HGNC:28382 "ENST00000334241.9|NM_152791.5" -HGNC:25669 ZNF556 zinc finger protein 556 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ11637 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 80032 ENSG00000172000 OTTHUMG00000180501 uc002lwp.2 BC009374 NM_024967 "CCDS74254|CCDS12097" Q9HAH1 12477932 HGNC:25669 "ENST00000307635.3|NM_024967.3" -HGNC:28632 ZNF557 zinc finger protein 557 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC4054 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 79230 ENSG00000130544 OTTHUMG00000181977 uc002mga.4 AK095524 NM_024341 "CCDS42485|CCDS45945" Q8N988 12477932 MGI:1921681 HGNC:28632 "ENST00000252840.11|NM_024341.3" +HGNC:28382 ZNF555 zinc finger protein 555 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC26707 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 148254 ENSG00000186300 OTTHUMG00000180500 uc002lwo.4 AL832140 NM_152791 "CCDS12096|CCDS59329" Q8NEP9 26184877 HGNC:28382 "ENST00000334241.9|NM_152791.5" +HGNC:25669 ZNF556 zinc finger protein 556 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ11637 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 80032 ENSG00000172000 OTTHUMG00000180501 uc002lwp.2 BC009374 NM_024967 "CCDS12097|CCDS74254" Q9HAH1 12477932 HGNC:25669 "ENST00000307635.3|NM_024967.3" +HGNC:28632 ZNF557 zinc finger protein 557 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC4054 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 79230 ENSG00000130544 OTTHUMG00000181977 uc002mga.4 AK095524 NM_024341 "CCDS45945|CCDS42485" Q8N988 12477932 MGI:1921681 HGNC:28632 "ENST00000252840.11|NM_024341.3" HGNC:26422 ZNF558 zinc finger protein 558 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ30932 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 148156 ENSG00000167785 OTTHUMG00000182196 uc010dwg.2 AK055494 NM_144693 CCDS12208 Q96NG5 MGI:1921681 RGD:9264599 HGNC:26422 "ENST00000601372.6|NM_144693.3" -HGNC:28197 ZNF559 zinc finger protein 559 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC13105 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 84527 ENSG00000188321 OTTHUMG00000179942 uc060sze.2 AL389937 NM_032497 "CCDS59349|CCDS12211|CCDS62531|CCDS62532" Q9BR84 12477932 HGNC:28197 "ENST00000603380.6|NM_032497.3" +HGNC:28197 ZNF559 zinc finger protein 559 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC13105 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 84527 ENSG00000188321 OTTHUMG00000179942 uc060sze.2 AL389937 NM_032497 "CCDS12211|CCDS59349|CCDS62532|CCDS62531" Q9BR84 12477932 HGNC:28197 "ENST00000603380.6|NM_032497.3" HGNC:42964 ZNF559-ZNF177 ZNF559-ZNF177 readthrough other readthrough Approved 19p13.2 19p13.2 2011-09-27 2023-03-15 100529215 ENSG00000270011 OTTHUMG00000183958 uc002mli.4 NM_001172650 "MGI:2441662|MGI:3708667|MGI:3779822" HGNC:42964 HGNC:26484 ZNF560 zinc finger protein 560 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ31986 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 147741 ENSG00000198028 OTTHUMG00000180130 uc002mlp.2 AK056548 NM_152476 CCDS12214 Q96MR9 MGI:1915280 HGNC:26484 "ENST00000301480.5|NM_152476.3" HGNC:28684 ZNF561 zinc finger protein 561 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC45408 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 93134 ENSG00000171469 OTTHUMG00000157054 uc002mlu.4 AK074787 NM_152289 "CCDS82286|CCDS12216" Q8N587 12477932 MGI:1924769 HGNC:28684 "ENST00000302851.8|NM_152289.3" HGNC:27613 ZNF561-AS1 ZNF561 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 C19orf82 chromosome 19 open reading frame 82 Antisense RNAs 1987 2013-06-06 2014-07-17 2014-07-17 2023-03-15 284385 ENSG00000267106 OTTHUMG00000180135 NR_122038 K7EIQ3 ZNF561-AS1 HGNC:27613 -HGNC:25950 ZNF562 zinc finger protein 562 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ20079 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 54811 ENSG00000171466 OTTHUMG00000180205 uc002mly.4 AK000086 NM_017656 "CCDS45956|CCDS74280|CCDS12217" Q6V9R5 MGI:1924769 RGD:1308643 HGNC:25950 "ENST00000453372.7|NM_001130031.2" +HGNC:25950 ZNF562 zinc finger protein 562 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ20079 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 54811 ENSG00000171466 OTTHUMG00000180205 uc002mly.4 AK000086 NM_017656 "CCDS12217|CCDS74280|CCDS45956" Q6V9R5 MGI:1924769 RGD:1308643 HGNC:25950 "ENST00000453372.7|NM_001130031.2" HGNC:30498 ZNF563 zinc finger protein 563 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ34797 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 147837 ENSG00000188868 OTTHUMG00000156413 uc002mtp.4 BC022523 NM_145276 "CCDS86706|CCDS12270" Q8TA94 MGI:2677168 HGNC:30498 "ENST00000293725.10|NM_145276.3" HGNC:31106 ZNF564 zinc finger protein 564 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC26914 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 163050 ENSG00000249709 OTTHUMG00000156418 uc002mty.4 BC028367 NM_144976 CCDS42505 Q8TBZ8 HGNC:31106 "ENST00000339282.12|NM_144976.4" HGNC:26726 ZNF565 zinc finger protein 565 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ36991 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 147929 ENSG00000196357 OTTHUMG00000180508 uc002odo.5 AK094310 NM_152477 CCDS12491 Q8N9K5 MGI:107780 RGD:1309815 614275 HGNC:26726 "ENST00000304116.10|NM_152477.5" HGNC:26726 -HGNC:25919 ZNF566 zinc finger protein 566 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ14779|MGC12515" Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 84924 ENSG00000186017 OTTHUMG00000048148 uc002oea.4 AK074497 NM_032838 "CCDS46061|CCDS12494|CCDS74346" Q969W8 12477932 MGI:1919806 RGD:1563239 HGNC:25919 "ENST00000452939.7|NM_001145344.1" +HGNC:25919 ZNF566 zinc finger protein 566 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ14779|MGC12515" Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 84924 ENSG00000186017 OTTHUMG00000048148 uc002oea.4 AK074497 NM_032838 "CCDS74346|CCDS12494|CCDS46061" Q969W8 12477932 MGI:1919806 RGD:1563239 HGNC:25919 "ENST00000452939.7|NM_001145344.1" HGNC:55301 ZNF566-AS1 ZNF566 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Antisense RNAs 1987 2020-10-15 2020-10-15 728752 ENSG00000267309 NR_036504 -HGNC:28696 ZNF567 zinc finger protein 567 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 MGC45586 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 163081 ENSG00000189042 OTTHUMG00000180898 uc010xtl.3 AK093034 NM_152603 "CCDS74349|CCDS86756|CCDS12495" Q8N184 12477932 MGI:3045326 HGNC:28696 "ENST00000682579.1|NM_001322917.1" +HGNC:28696 ZNF567 zinc finger protein 567 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 MGC45586 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 163081 ENSG00000189042 OTTHUMG00000180898 uc010xtl.3 AK093034 NM_152603 "CCDS12495|CCDS86756|CCDS74349" Q8N184 12477932 MGI:3045326 RGD:2321626 HGNC:28696 "ENST00000682579.1|NM_001322917.1" HGNC:51281 ZNF567-DT ZNF567 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 LINC01534 long intergenic non-protein coding RNA 1534 Divergent transcripts 1990 2014-08-28 2021-08-02 2021-08-02 2021-08-02 101927621 ENSG00000225975 OTTHUMG00000048158 NR_110708 LINC01534 HGNC:51281 HGNC:25392 ZNF568 zinc finger protein 568 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 DKFZp686B0797 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 374900 ENSG00000198453 OTTHUMG00000048160 uc002ofc.4 BX640681 NM_198539 "CCDS56093|CCDS74351|CCDS56092|CCDS42558" Q3ZCX4 RGD:1559509 617566 HGNC:25392 "ENST00000333987.12|NM_198539.4" HGNC:24737 ZNF569 zinc finger protein 569 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ32053|ZAP1|Zfp74" Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 148266 ENSG00000196437 OTTHUMG00000048172 uc002ogi.4 AL833408 NM_152484 "CCDS82341|CCDS12503" Q5MCW4 16793018 MGI:10778 RGD:1563223 613904 HGNC:24737 "ENST00000316950.11|NM_152484.3" -HGNC:26416 ZNF570 zinc finger protein 570 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ30791 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 148268 ENSG00000171827 OTTHUMG00000048176 uc002ogk.2 AK055353 NM_144694 "CCDS74355|CCDS12504" Q96NI8 RGD:9264595 HGNC:26416 "ENST00000330173.6|NM_144694.5" +HGNC:26416 ZNF570 zinc finger protein 570 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ30791 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 148268 ENSG00000171827 OTTHUMG00000048176 uc002ogk.2 AK055353 NM_144694 "CCDS12504|CCDS74355" Q96NI8 RGD:9264595 HGNC:26416 "ENST00000330173.6|NM_144694.5" HGNC:25000 ZNF571 zinc finger protein 571 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 HSPC059 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 51276 ENSG00000180479 OTTHUMG00000182016 uc002ogt.4 AF161544 NM_016536 CCDS12505 Q7Z3V5 11042152 HGNC:25000 "ENST00000451802.7|NM_016536.5" HGNC:44324 ZNF571-AS1 ZNF571 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Antisense RNAs 1987 2013-05-21 2013-05-21 100507433 ENSG00000267470 OTTHUMG00000182052 "BC042488|BX647800" NR_038247 ZNF571-AS1 HGNC:44324 HGNC:26758 ZNF572 zinc finger protein 572 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 FLJ38002 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 137209 ENSG00000180938 OTTHUMG00000164988 uc003yrr.4 BX537876 NM_152412 CCDS6354 Q7Z3I7 HGNC:26758 "ENST00000319286.6|NM_152412.3" -HGNC:26420 ZNF573 zinc finger protein 573 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ30921 Zinc fingers C2H2-type 28 2004-02-15 2023-03-15 126231 ENSG00000189144 OTTHUMG00000048183 uc002ohe.3 AK074539 NM_152360 "CCDS59381|CCDS12508" Q86YE8 12477932 HGNC:26420 "ENST00000536220.7|NM_001172690.2" +HGNC:26420 ZNF573 zinc finger protein 573 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ30921 Zinc fingers C2H2-type 28 2004-02-15 2023-03-15 126231 ENSG00000189144 OTTHUMG00000048183 uc002ohe.3 AK074539 NM_152360 "CCDS12508|CCDS59381" Q86YE8 12477932 HGNC:26420 "ENST00000536220.7|NM_001172690.2" HGNC:26166 ZNF574 zinc finger protein 574 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ22059 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 64763 ENSG00000105732 OTTHUMG00000182751 uc060zev.1 AK074788 NM_022752 "CCDS82356|CCDS12596" Q6ZN55 12477932 MGI:2442951 RGD:1311420 HGNC:26166 "ENST00000359044.5|NM_022752.6" HGNC:27606 ZNF575 zinc finger protein 575 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ32567 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 284346 ENSG00000176472 OTTHUMG00000182698 uc002ows.4 BC043611 NM_174945 CCDS12623 Q86XF7 MGI:2141921 RGD:1305025 HGNC:27606 "ENST00000314228.10|NM_174945.3" HGNC:28357 ZNF576 zinc finger protein 576 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 MGC2508 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 79177 ENSG00000124444 OTTHUMG00000165479 uc002owz.3 AK026353 NM_024327 CCDS12625 Q9H609 12477932 471366 HGNC:28357 "ENST00000336564.5|NM_001145347.2" @@ -43329,11 +43331,11 @@ HGNC:25017 ZNF581 zinc finger protein 581 protein-coding gene gene with protein HGNC:26421 ZNF582 zinc finger protein 582 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ30927 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 147948 ENSG00000018869 OTTHUMG00000181939 uc061dfm.1 AK055489 NM_144690 CCDS33121 Q96NG8 22815913 MGI:3782026 RGD:7617005 615600 HGNC:26421 "ENST00000586929.6|NM_001320371.4" HGNC:25213 ZNF582-DT ZNF582 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 ZNF582-AS1 "ZNF582 antisense RNA 1 (non-protein coding)|ZNF582 antisense RNA 1|ZNF582 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-08-10 2020-10-15 2020-10-15 2020-10-15 386758 ENSG00000267454 OTTHUMG00000182151 uc002qnb.3 "AW160702|BC036928" NR_037159 12477932 ZNF582-AS1 HGNC:25213 HGNC:26427 ZNF583 zinc finger protein 583 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ31030 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 147949 ENSG00000198440 OTTHUMG00000168874 uc002qnc.3 AK055592 NM_152478 CCDS12943 Q96ND8 MGI:2682297 RGD:1562044 HGNC:26427 "ENST00000333201.13|NM_152478.3" -HGNC:27318 ZNF584 zinc finger protein 584 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ39899 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 201514 ENSG00000171574 OTTHUMG00000183533 uc002qsp.4 AK097218 NM_173548 "CCDS12979|CCDS86814|CCDS82414" Q8IVC4 HGNC:27318 "ENST00000306910.9|NM_173548.3" -HGNC:56027 ZNF584-DT ZNF584 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 CTD-2619J13.14 Divergent transcripts 1990 2021-12-03 2021-12-03 123706526 ENSG00000232098 +HGNC:27318 ZNF584 zinc finger protein 584 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ39899 Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 201514 ENSG00000171574 OTTHUMG00000183533 uc002qsp.4 AK097218 NM_173548 "CCDS82414|CCDS12979|CCDS86814" Q8IVC4 HGNC:27318 "ENST00000306910.9|NM_173548.3" +HGNC:56027 ZNF584-DT ZNF584 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 CTD-2619J13.14 Divergent transcripts 1990 2021-12-03 2021-12-03 123706526 ENSG00000232098 NR_186337 HGNC:26305 ZNF585A zinc finger protein 585A protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ23765|Zfp27" Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 199704 ENSG00000196967 OTTHUMG00000181857 uc002ofo.3 AK074345 NM_152655 "CCDS74353|CCDS12499" Q6P3V2 12477932 MGI:99174 RGD:2318958 HGNC:26305 "ENST00000292841.10|NM_001288800.2" HGNC:30948 ZNF585B zinc finger protein 585B protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ14928|SZFP41|Zfp27" Zinc fingers C2H2-type 28 2004-02-15 2023-01-20 92285 ENSG00000245680 OTTHUMG00000048165 uc002ofq.3 AK027834 NM_152279 CCDS12500 Q52M93 12477932 MGI:99174 RGD:40938591 HGNC:30948 "ENST00000532828.7|NM_152279.4" -HGNC:25949 ZNF586 zinc finger protein 586 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ20070 Zinc fingers C2H2-type 28 2004-02-19 2023-01-20 54807 ENSG00000083828 OTTHUMG00000183477 uc002qqd.4 AK095993 NM_017652 "CCDS56108|CCDS56107|CCDS42640" Q9NXT0 12477932 HGNC:25949 "ENST00000396154.7|NM_017652.4" +HGNC:25949 ZNF586 zinc finger protein 586 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ20070 Zinc fingers C2H2-type 28 2004-02-19 2023-01-20 54807 ENSG00000083828 OTTHUMG00000183477 uc002qqd.4 AK095993 NM_017652 "CCDS56108|CCDS42640|CCDS56107" Q9NXT0 12477932 HGNC:25949 "ENST00000396154.7|NM_017652.4" HGNC:30955 ZNF587 zinc finger protein 587 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZF6|FLJ14710|UBF-fl|FLJ20813" Zinc fingers C2H2-type 28 2004-02-19 2023-01-20 84914 ENSG00000198466 OTTHUMG00000154901 uc002qql.4 AF294842 NM_032828 "CCDS12964|CCDS56110" Q96SQ5 10520746 HGNC:30955 "ENST00000339656.8|NM_032828.4" HGNC:37142 ZNF587B zinc finger protein 587B protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2012-02-01 2023-01-20 100293516 ENSG00000269343 OTTHUMG00000183479 uc061dnm.1 AK299091 NM_001204818 "CCDS92699|CCDS56109" E7ETH6 HGNC:37142 "ENST00000594901.2|NM_001376223.1" HGNC:42438 ZNF587P1 zinc finger protein 587 pseudogene 1 pseudogene pseudogene Approved 3p23 03p23 2011-07-27 2011-07-27 100419751 ENSG00000223965 OTTHUMG00000155827 NG_025682 PGOHUM00000237978 HGNC:42438 @@ -43343,7 +43345,7 @@ HGNC:30943 ZNF593 zinc finger protein 593 protein-coding gene gene with protein HGNC:41278 ZNF593OS ZNF593 opposite strand protein-coding gene gene with protein product Approved 1p36.11 01p36.11 2020-09-10 2020-09-10 118568799 ENSG00000236782 OTTHUMG00000007539 NM_001395468 A0A0U1RRA0 MGI:3528958 "ENST00000433939.7|NM_001395468.1" HGNC:29392 ZNF594 zinc finger protein 594 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 KIAA1871 Zinc fingers C2H2-type 28 2004-02-27 2023-01-20 84622 ENSG00000180626 OTTHUMG00000132059 uc010cla.2 AB058774 NM_032530 CCDS42241 Q96JF6 11347906 HGNC:29392 "ENST00000575779.2|NM_032530.2" HGNC:55347 ZNF594-DT ZNF594 divergent transcript non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Divergent transcripts 1990 2020-11-04 2020-11-04 100130950 ENSG00000261879 NR_034082 -HGNC:27196 ZNF595 zinc finger protein 595 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ31740 Zinc fingers C2H2-type 28 2004-03-01 2023-01-20 152687 ENSG00000272602 OTTHUMG00000159865 uc032szy.1 BX537887 NM_182524 "CCDS75077|CCDS75076|CCDS75075" Q8IYB9 12477932 "MGI:1920860|MGI:1924450|MGI:2652824|MGI:3036263|MGI:3040707|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:27196 "ENST00000610261.6|NM_182524.4" +HGNC:27196 ZNF595 zinc finger protein 595 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ31740 Zinc fingers C2H2-type 28 2004-03-01 2023-01-20 152687 ENSG00000272602 OTTHUMG00000159865 uc032szy.1 BX537887 NM_182524 "CCDS75075|CCDS75076|CCDS75077" Q8IYB9 12477932 "MGI:1920860|MGI:1924450|MGI:2652824|MGI:3036263|MGI:3040707|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:27196 "ENST00000610261.6|NM_182524.4" HGNC:27268 ZNF596 zinc finger protein 596 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 Zinc fingers C2H2-type 28 2004-03-01 2023-01-20 169270 ENSG00000172748 OTTHUMG00000086931 uc033azn.1 BC026190 NM_173539 CCDS5951 Q8TC21 12477932 HGNC:27268 "ENST00000398612.3|NM_001042416.3" HGNC:26573 ZNF597 zinc finger protein 597 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ33071|HIT-4" Zinc fingers C2H2-type 28 2004-03-01 2023-01-20 146434 ENSG00000167981 OTTHUMG00000129359 uc002cvd.4 AK057633 NM_152457 CCDS10505 Q96LX8 19968752 MGI:1918313 RGD:628674 LRG_1066|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1066.xml 614685 HGNC:26573 "ENST00000301744.7|NM_152457.3" HGNC:28079 ZNF598 zinc finger protein 598, E3 ubiquitin ligase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ00086|HEL2" "Zinc fingers C2H2-type|Ring finger proteins" "28|58" 2004-03-01 2020-03-09 2020-03-09 90850 ENSG00000167962 OTTHUMG00000176955 uc002cof.3 BC029270 NM_178167 Q86UK7 28685749 MGI:2670965 RGD:1304900 617508 HGNC:28079 @@ -43352,23 +43354,23 @@ HGNC:30951 ZNF600 zinc finger protein 600 protein-coding gene gene with protein HGNC:29407 ZNF601P zinc finger protein 601, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "dJ313I6.8|D6S2711|PRD51p" "zinc finger protein 601 pseudogene|zinc finger protein 601 (pseudogene)" 2004-11-25 2010-08-03 2015-10-30 493824 NG_029789 HGNC:29407 HGNC:23313 ZNF602P zinc finger protein 602, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 dJ265C24.5 "zinc finger protein 602 pseudogene|zinc finger protein 602 (pseudogene)" 2004-11-25 2010-08-03 2020-04-20 100419608 ENSG00000219392 OTTHUMG00000014508 NG_025918 PGOHUM00000301714 HGNC:23313 HGNC:23322 ZNF603P zinc finger protein 603, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 p373c6.7 "zinc finger protein 603 pseudogene|zinc finger protein 603 (pseudogene)" 2004-11-25 2010-08-03 2015-10-30 493821 ENSG00000216901 OTTHUMG00000014516 NG_032184 PGOHUM00000301715 HGNC:23322 -HGNC:28068 ZNF605 zinc finger protein 605 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 Zinc fingers C2H2-type 28 2004-03-15 2009-09-11 2009-09-11 2023-01-20 100289635 ENSG00000196458 OTTHUMG00000167934 uc001ulh.4 AL832623 NM_183238 "CCDS31938|CCDS53850" Q86T29 MGI:2444933 RGD:2318406 HGNC:28068 "ENST00000360187.9|NM_183238.4" +HGNC:28068 ZNF605 zinc finger protein 605 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 Zinc fingers C2H2-type 28 2004-03-15 2009-09-11 2009-09-11 2023-01-20 100289635 ENSG00000196458 OTTHUMG00000167934 uc001ulh.4 AL832623 NM_183238 "CCDS53850|CCDS31938" Q86T29 MGI:2444933 RGD:2318406 HGNC:28068 "ENST00000360187.9|NM_183238.4" HGNC:25879 ZNF606 zinc finger protein 606 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "FLJ14260|KIAA1852" ZNF328 Zinc fingers C2H2-type 28 2004-03-18 2023-01-20 80095 ENSG00000166704 OTTHUMG00000169804 uc002qqw.4 AB058755 NM_025027 CCDS12968 Q8WXB4 11347906 MGI:1914620 RGD:1309810 613905 HGNC:25879 "ENST00000551380.7|NM_001348022.3" HGNC:25879 HGNC:44322 ZNF606-AS1 ZNF606 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Antisense RNAs 1987 2023-02-01 2023-02-01 100128398 ENSG00000176593 NR_036508 -HGNC:28192 ZNF607 zinc finger protein 607 protein-coding gene gene with protein product Approved 19q13.1 19q13.1 "MGC13071|FLJ14802" Zinc fingers C2H2-type 28 2004-03-18 2023-01-20 84775 ENSG00000198182 OTTHUMG00000182108 uc002ohc.2 AK127464 NM_032689 "CCDS54259|CCDS33006" Q96SK3 14702039 RGD:7588314 HGNC:28192 "ENST00000355202.9|NM_032689.5" +HGNC:28192 ZNF607 zinc finger protein 607 protein-coding gene gene with protein product Approved 19q13.1 19q13.1 "MGC13071|FLJ14802" Zinc fingers C2H2-type 28 2004-03-18 2023-01-20 84775 ENSG00000198182 OTTHUMG00000182108 uc002ohc.2 AK127464 NM_032689 "CCDS33006|CCDS54259" Q96SK3 14702039 RGD:7588314 HGNC:28192 "ENST00000355202.9|NM_032689.5" HGNC:29238 ZNF608 zinc finger protein 608 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "KIAA1281|DKFZp434M098|NY-REN-36" Zinc fingers C2H2-type 28 2004-03-19 2023-01-20 57507 ENSG00000168916 OTTHUMG00000162999 uc003ktq.2 AB033107 NM_020747 CCDS34219 Q9ULD9 "10574462|10508479" MGI:2442338 RGD:1306824 HGNC:29238 "ENST00000513986.2|NM_020747.3" HGNC:29003 ZNF609 zinc finger protein 609 protein-coding gene gene with protein product Approved 15q22.1 15q22.1 KIAA0295 Zinc fingers C2H2-type 28 2004-03-19 2023-01-20 23060 ENSG00000180357 OTTHUMG00000172370 uc002ann.4 BC014251 NM_015042 CCDS32270 O15014 9205841 MGI:2674092 RGD:1561651 617474 HGNC:29003 "ENST00000326648.5|NM_015042.2" -HGNC:26687 ZNF610 zinc finger protein 610 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ36040 Zinc fingers C2H2-type 28 2004-03-29 2023-01-20 162963 ENSG00000167554 OTTHUMG00000182645 uc002pyx.5 AK093359 NM_173530 "CCDS54309|CCDS12851" Q8N9Z0 12477932 HGNC:26687 "ENST00000403906.8|NM_001161425.2" +HGNC:26687 ZNF610 zinc finger protein 610 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ36040 Zinc fingers C2H2-type 28 2004-03-29 2023-01-20 162963 ENSG00000167554 OTTHUMG00000182645 uc002pyx.5 AK093359 NM_173530 "CCDS12851|CCDS54309" Q8N9Z0 12477932 HGNC:26687 "ENST00000403906.8|NM_001161425.2" HGNC:28766 ZNF611 zinc finger protein 611 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 MGC5384 Zinc fingers C2H2-type 28 2004-03-29 2023-01-20 81856 ENSG00000213020 OTTHUMG00000154908 uc010ydp.2 AK091389 NM_030972 "CCDS12855|CCDS54312" Q8N823 12477932 "MGI:107768|MGI:1920860|MGI:1924450|MGI:1925501|MGI:2652824|MGI:3036263|MGI:3040674|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:28766 "ENST00000652185.1|NM_001161499.2" -HGNC:25827 ZNF613 zinc finger protein 613 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ13590 Zinc fingers C2H2-type 28 2004-03-29 2023-01-20 79898 ENSG00000176024 OTTHUMG00000182424 uc061bzl.1 AK027565 NM_024840 "CCDS33089|CCDS12844" Q6PF04 12477932 MGI:1919404 HGNC:25827 "ENST00000293471.11|NM_001031721.4" +HGNC:25827 ZNF613 zinc finger protein 613 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ13590 Zinc fingers C2H2-type 28 2004-03-29 2023-01-20 79898 ENSG00000176024 OTTHUMG00000182424 uc061bzl.1 AK027565 NM_024840 "CCDS12844|CCDS33089" Q6PF04 12477932 MGI:1919404 HGNC:25827 "ENST00000293471.11|NM_001031721.4" HGNC:24722 ZNF614 zinc finger protein 614 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ21941 Zinc fingers C2H2-type 28 2004-03-29 2023-01-20 80110 ENSG00000142556 OTTHUMG00000182551 uc002pyj.4 BC022246 NM_025040 CCDS12847 Q8N883 12477932 HGNC:24722 "ENST00000270649.11|NM_025040.4" -HGNC:24740 ZNF615 zinc finger protein 615 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ33710 Zinc fingers C2H2-type 28 2004-03-29 2023-01-20 284370 ENSG00000197619 OTTHUMG00000182550 uc002pye.3 AK096691 NM_198480 "CCDS59418|CCDS82387|CCDS12846" Q8N8J6 12477932 "MGI:1920860|MGI:1924450|MGI:2652824|MGI:3036263|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:24740 "ENST00000598071.6|NM_001199324.2" +HGNC:24740 ZNF615 zinc finger protein 615 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ33710 Zinc fingers C2H2-type 28 2004-03-29 2023-01-20 284370 ENSG00000197619 OTTHUMG00000182550 uc002pye.3 AK096691 NM_198480 "CCDS12846|CCDS82387|CCDS59418" Q8N8J6 12477932 "MGI:1920860|MGI:1924450|MGI:2652824|MGI:3036263|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:24740 "ENST00000598071.6|NM_001199324.2" HGNC:28062 ZNF616 zinc finger protein 616 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 MGC45556 Zinc fingers C2H2-type 28 2004-03-29 2023-01-20 90317 ENSG00000204611 OTTHUMG00000182566 uc002pym.4 AK092266 NM_178523 CCDS33090 Q08AN1 "MGI:108187|MGI:1328322|MGI:2148252|MGI:3650650|MGI:3651014|MGI:3651978|MGI:3651986|MGI:3700963|MGI:3700965|MGI:3701604|MGI:3702694|MGI:3705222|MGI:3712454|MGI:5590069" HGNC:28062 "ENST00000600228.6|NM_178523.5" -HGNC:29416 ZNF618 zinc finger protein 618 protein-coding gene gene with protein product Approved 9q32 09q32 "KIAA1952|NEDD10" neural precursor cell expressed, developmentally down-regulated 10 Zinc fingers C2H2-type 28 2004-04-15 2023-01-20 114991 ENSG00000157657 OTTHUMG00000020532 uc004bic.4 BC012922 NM_133374 "CCDS83402|CCDS48008|CCDS83403" Q5T7W0 11853319 MGI:1919950 RGD:1310743 617077 HGNC:29416 "ENST00000374126.10|NM_001318042.2" -HGNC:26910 ZNF619 zinc finger protein 619 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ90764 Zinc fingers C2H2-type 28 2004-04-15 2023-03-15 285267 ENSG00000177873 OTTHUMG00000131391 uc011azb.3 AK075245 NM_173656 "CCDS46803|CCDS46802|CCDS46801" Q8N2I2 HGNC:26910 "ENST00000432264.4|NM_001145093.4" +HGNC:29416 ZNF618 zinc finger protein 618 protein-coding gene gene with protein product Approved 9q32 09q32 "KIAA1952|NEDD10" neural precursor cell expressed, developmentally down-regulated 10 Zinc fingers C2H2-type 28 2004-04-15 2023-01-20 114991 ENSG00000157657 OTTHUMG00000020532 uc004bic.4 BC012922 NM_133374 "CCDS83402|CCDS83403|CCDS48008" Q5T7W0 11853319 MGI:1919950 RGD:1310743 617077 HGNC:29416 "ENST00000374126.10|NM_001318042.2" +HGNC:26910 ZNF619 zinc finger protein 619 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ90764 Zinc fingers C2H2-type 28 2004-04-15 2023-03-15 285267 ENSG00000177873 OTTHUMG00000131391 uc011azb.3 AK075245 NM_173656 "CCDS46802|CCDS46801|CCDS46803" Q8N2I2 HGNC:26910 "ENST00000432264.4|NM_001145093.4" HGNC:50784 ZNF619P1 zinc finger protein 619 pseudogene 1 pseudogene pseudogene Approved 7p12.3 07p12.3 2014-06-18 2014-06-18 100419776 ENSG00000224547 OTTHUMG00000155473 NG_026563 PGOHUM00000233223 HGNC:50784 -HGNC:28742 ZNF620 zinc finger protein 620 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 MGC50836 Zinc fingers C2H2-type 28 2004-04-15 2023-01-20 253639 ENSG00000177842 OTTHUMG00000156044 uc003ckk.5 AK093599 NM_175888 "CCDS33740|CCDS58825" Q6ZNG0 12477932 HGNC:28742 "ENST00000314529.10|NM_175888.4" -HGNC:24787 ZNF621 zinc finger protein 621 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ45246 Zinc fingers C2H2-type 28 2004-04-15 2023-01-20 285268 ENSG00000172888 OTTHUMG00000131389 uc003ckn.4 AK127181 NM_198484 "CCDS2693|CCDS74920" Q6ZSS3 HGNC:24787 "ENST00000339296.10|NM_198484.5" +HGNC:28742 ZNF620 zinc finger protein 620 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 MGC50836 Zinc fingers C2H2-type 28 2004-04-15 2023-01-20 253639 ENSG00000177842 OTTHUMG00000156044 uc003ckk.5 AK093599 NM_175888 "CCDS58825|CCDS33740" Q6ZNG0 12477932 HGNC:28742 "ENST00000314529.10|NM_175888.4" +HGNC:24787 ZNF621 zinc finger protein 621 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ45246 Zinc fingers C2H2-type 28 2004-04-15 2023-01-20 285268 ENSG00000172888 OTTHUMG00000131389 uc003ckn.4 AK127181 NM_198484 "CCDS74920|CCDS2693" Q6ZSS3 HGNC:24787 "ENST00000339296.10|NM_198484.5" HGNC:30958 ZNF622 zinc finger protein 622 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "MGC2485|MGC17552|ZPR9" Zinc fingers matrin-type 84 2004-04-19 2023-01-20 90441 ENSG00000173545 OTTHUMG00000090567 uc003jfq.4 AY046059 NM_033414 CCDS3886 Q969S3 "11802789|12645566" MGI:1289282 RGD:1309146 608694 HGNC:30958 "ENST00000308683.3|NM_033414.3" HGNC:55158 ZNF622P1 ZNF622 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2020-07-17 2020-07-17 100419792 ENSG00000233688 NG_026784 HGNC:29084 ZNF623 zinc finger protein 623 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA0628 Zinc fingers C2H2-type 28 2004-04-20 2023-01-20 9831 ENSG00000183309 OTTHUMG00000165186 uc003yzd.3 AB014528 NM_014789 "CCDS34957|CCDS47931" O75123 9734811 MGI:1926084 RGD:7635192 HGNC:29084 "ENST00000526926.6|NM_001261843.2" @@ -43384,8 +43386,8 @@ HGNC:28855 ZNF630 zinc finger protein 630 protein-coding gene gene with protein HGNC:41215 ZNF630-AS1 ZNF630 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 ZNF630 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2016-11-24 100874120 ENSG00000277541 OTTHUMG00000021461 uc033ecd.2 NR_046742 ZNF630-AS1 HGNC:41215 HGNC:17894 ZNF638 zinc finger protein 638 protein-coding gene gene with protein product Approved 2p13.3-p13.2 02p13.3-p13.2 "NP220|MGC26130|Zfp638" ZFML zinc finger, matrin-like "Zinc fingers matrin-type|RNA binding motif containing" "84|725" 2004-07-02 2004-07-30 2004-07-29 2023-01-20 27332 ENSG00000075292 OTTHUMG00000129735 uc002sia.4 D83032 NM_014497 CCDS1917 Q14966 8647861 MGI:1203484 RGD:1309746 614349 HGNC:17894 "ENST00000264447.9|NM_014497.5" HGNC:30950 ZNF639 zinc finger protein 639 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "ANC-2H01|ZASC1" zinc finger amplified in esophageal squamous cell carcinomas 1 Zinc fingers C2H2-type 28 2004-07-30 2023-01-20 51193 ENSG00000121864 OTTHUMG00000157439 uc003fjr.2 BC020500 NM_016331 CCDS3227 Q9UID6 14522885 MGI:1915028 RGD:1585689 619214 HGNC:30950 "ENST00000496856.6|NM_001303426.2" -HGNC:31834 ZNF641 zinc finger protein 641 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 FLJ31295 Zinc fingers C2H2-type 28 2005-05-04 2023-01-20 121274 ENSG00000167528 OTTHUMG00000169906 uc058nha.1 BC018090 NM_152320 "CCDS8763|CCDS53787|CCDS53788" Q96N77 MGI:2442788 RGD:1310412 613906 HGNC:31834 "ENST00000547026.6|NM_001172681.2" -HGNC:29222 ZNF644 zinc finger protein 644 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "KIAA1221|BM-005|MGC60165|MGC70410" Zinc fingers C2H2-type 28 2004-11-08 2023-01-20 84146 ENSG00000122482 OTTHUMG00000010078 uc001dnw.4 AB033047 NM_032186 "CCDS732|CCDS731" Q9H582 10574462 MGI:1277212 RGD:1306805 614159 HGNC:29222 "ENST00000337393.10|NM_201269.3" HGNC:29222 +HGNC:31834 ZNF641 zinc finger protein 641 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 FLJ31295 Zinc fingers C2H2-type 28 2005-05-04 2023-01-20 121274 ENSG00000167528 OTTHUMG00000169906 uc058nha.1 BC018090 NM_152320 "CCDS53788|CCDS8763|CCDS53787" Q96N77 MGI:2442788 RGD:1310412 613906 HGNC:31834 "ENST00000547026.6|NM_001172681.2" +HGNC:29222 ZNF644 zinc finger protein 644 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "KIAA1221|BM-005|MGC60165|MGC70410" Zinc fingers C2H2-type 28 2004-11-08 2023-01-20 84146 ENSG00000122482 OTTHUMG00000010078 uc001dnw.4 AB033047 NM_032186 "CCDS731|CCDS732" Q9H582 10574462 MGI:1277212 RGD:1306805 614159 HGNC:29222 "ENST00000337393.10|NM_201269.3" HGNC:29222 HGNC:29004 ZNF646 zinc finger protein 646 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 KIAA0296 Zinc fingers C2H2-type 28 2004-12-08 2023-01-20 9726 ENSG00000167395 OTTHUMG00000047355 uc002eap.4 AB002294 NM_014699 CCDS10702 O15015 MGI:3665412 RGD:1561579 619299 HGNC:29004 "ENST00000300850.5|NM_014699.4" HGNC:39749 ZNF646P1 zinc finger protein 646 pseudogene 1 pseudogene pseudogene Approved 13q14.3 13q14.3 2011-03-25 2015-10-30 100419854 ENSG00000274316 OTTHUMG00000187806 NG_024858 PGOHUM00000291966 HGNC:39749 HGNC:18190 ZNF648 zinc finger protein 648 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 FLJ46813 Zinc fingers C2H2-type 28 2004-10-18 2023-01-20 127665 ENSG00000179930 OTTHUMG00000037302 uc001goz.3 AK128654 NM_001009992 CCDS30952 Q5T619 MGI:2685049 RGD:2323778 HGNC:18190 "ENST00000339948.3|NM_001009992.1" @@ -43396,30 +43398,30 @@ HGNC:55582 ZNF652-AS1 ZNF652 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:35166 ZNF652P1 zinc finger protein 652 pseudogene 1 pseudogene pseudogene Approved 3p21.2 03p21.2 ZNF652P zinc finger protein 652 pseudogene 2008-10-09 2009-11-20 2009-11-20 2021-04-27 646592 ENSG00000235278 OTTHUMG00000156856 XM_929528 PGOHUM00000237627 HGNC:35166 HGNC:25196 ZNF653 zinc finger protein 653 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zip67 "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 2005-01-07 2023-01-20 115950 ENSG00000161914 OTTHUMG00000182032 uc002mrz.2 AY072704 NM_138783 CCDS12261 Q96CK0 12477932 MGI:2442362 RGD:1308754 611371 HGNC:25196 "ENST00000293771.10|NM_138783.4" HGNC:25612 ZNF654 zinc finger protein 654 protein-coding gene gene with protein product Approved 3p11.1 03p11.1 "FLJ10997|FLJ21142" Zinc fingers C2H2-type 28 2005-01-10 2023-03-15 55279 ENSG00000175105 OTTHUMG00000159097 uc003dqv.4 AF543494 NM_018293 CCDS87110 Q8IZM8 MGI:1919270 RGD:1308321 HGNC:25612 "ENST00000636215.2|NM_001350134.2" -HGNC:30899 ZNF655 zinc finger protein 655 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "VIK-1|VIK" Zinc fingers C2H2-type 28 2005-01-11 2023-01-20 79027 ENSG00000197343 OTTHUMG00000185968 uc003urj.5 AY099353 NM_138494 "CCDS34695|CCDS47655|CCDS5669|CCDS5670" Q8N720 "11179890|15558030" MGI:1919861 RGD:1309158 617891 HGNC:30899 "ENST00000252713.9|NM_138494.3" +HGNC:30899 ZNF655 zinc finger protein 655 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "VIK-1|VIK" Zinc fingers C2H2-type 28 2005-01-11 2023-01-20 79027 ENSG00000197343 OTTHUMG00000185968 uc003urj.5 AY099353 NM_138494 "CCDS34695|CCDS5669|CCDS47655|CCDS5670" Q8N720 "11179890|15558030" MGI:1919861 RGD:1309158 617891 HGNC:30899 "ENST00000252713.9|NM_138494.3" HGNC:25226 ZNF658 zinc finger protein 658 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "MGC35232|DKFZp572C163|FLJ32813" Zinc fingers C2H2-type 28 2005-01-20 2023-01-20 26149 ENSG00000274349 OTTHUMG00000188361 uc004abs.2 AA482262 NM_033160 CCDS75846 Q5TYW1 "MGI:1923640|MGI:3648947|MGI:3650906" 616290 HGNC:25226 "ENST00000621410.5|NM_033160.7" HGNC:32033 ZNF658B zinc finger protein 658B (pseudogene) pseudogene pseudogene Approved 9p12 09p12 zinc finger protein 658B 2005-08-30 2016-01-06 2023-03-15 401509 ENSG00000198416 OTTHUMG00000171406 AK095694 NR_003528 Q4V348 PGOHUM00000303804 HGNC:32033 HGNC:26720 ZNF660 zinc finger protein 660 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ36870 Zinc fingers C2H2-type 28 2005-02-07 2023-01-20 285349 ENSG00000144792 OTTHUMG00000133097 uc003cnl.2 AK094189 NM_173658 CCDS2716 Q6AZW8 RGD:11394460 HGNC:26720 "ENST00000322734.2|NM_173658.4" HGNC:31930 ZNF662 zinc finger protein 662 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ45880 Zinc fingers C2H2-type 28 2005-03-04 2023-01-20 389114 ENSG00000182983 OTTHUMG00000133041 uc003cmk.3 AK127779 NM_207404 "CCDS46807|CCDS2708" Q6ZS27 HGNC:31930 "ENST00000440367.7|NM_207404.4" HGNC:25342 ZNF663P zinc finger protein 663, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 DKFZp547G0215 ZNF663 zinc finger protein 663 Zinc fingers C2H2-type 28 2005-03-17 2013-09-26 2013-09-26 2021-10-07 100130934 ENSG00000215452 OTTHUMG00000032648 NR_045983 MGI:2685854 PGOHUM00000250546 HGNC:25342 -HGNC:25406 ZNF664 zinc finger protein 664 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "ZFOC1|DKFZp761B128" zinc finger, organ of Corti 1 ZNF176 zinc finger protein 176 Zinc fingers C2H2-type 28 2005-03-17 2023-01-20 144348 ENSG00000179195 OTTHUMG00000168596 uc058uwb.1 NM_152437 CCDS9257 Q8N3J9 21695231 MGI:2442505 617890 HGNC:25406 "ENST00000337815.9|NM_152437.3" +HGNC:25406 ZNF664 zinc finger protein 664 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "ZFOC1|DKFZp761B128" zinc finger, organ of Corti 1 ZNF176 zinc finger protein 176 Zinc fingers C2H2-type 28 2005-03-17 2023-01-20 144348 ENSG00000179195 OTTHUMG00000168596 uc058uwb.1 NM_152437 CCDS9257 Q8N3J9 21695231 MGI:2442505 RGD:7677226 617890 HGNC:25406 "ENST00000337815.9|NM_152437.3" HGNC:25885 ZNF665 zinc finger protein 665 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ14345|ZFP160L" Zinc fingers C2H2-type 28 2005-03-17 2023-01-20 79788 ENSG00000197497 OTTHUMG00000182885 uc010eqm.2 NM_024733 CCDS46169 Q9H7R5 MGI:108187 RGD:2319215 HGNC:25885 "ENST00000396424.5|NM_024733.5" HGNC:28854 ZNF667 zinc finger protein 667 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ14011 Zinc fingers C2H2-type 28 2005-03-18 2023-01-20 63934 ENSG00000198046 OTTHUMG00000181941 uc002qnd.4 NM_022103 CCDS12944 Q5HYK9 MGI:2442757 RGD:1359114 611024 HGNC:28854 "ENST00000504904.8|NM_001321356.2" HGNC:44321 ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 MORT Mortal Obligate RNA Transcript Antisense RNAs 1987 2013-05-21 2018-06-15 100128252 ENSG00000166770 OTTHUMG00000181942 "AW955601|BC110411" NR_036521 "26646903|29707199" ZNF667-AS1 HGNC:44321 -HGNC:25821 ZNF668 zinc finger protein 668 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ13479 Zinc fingers C2H2-type 28 2005-03-18 2023-01-20 79759 ENSG00000167394 OTTHUMG00000047357 uc002eao.4 NM_024706 "CCDS54003|CCDS10701" Q96K58 "21852383|23777805" MGI:2442943 RGD:1308623 617103 HGNC:25821 "ENST00000300849.5|NM_024706.5" +HGNC:25821 ZNF668 zinc finger protein 668 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ13479 Zinc fingers C2H2-type 28 2005-03-18 2023-01-20 79759 ENSG00000167394 OTTHUMG00000047357 uc002eao.4 NM_024706 "CCDS10701|CCDS54003" Q96K58 "21852383|23777805" MGI:2442943 RGD:1308623 617103 HGNC:25821 "ENST00000300849.5|NM_024706.5" HGNC:25736 ZNF669 zinc finger protein 669 protein-coding gene gene with protein product Approved 1q44 01q44 FLJ12606 Zinc fingers C2H2-type 28 2005-03-18 2023-01-20 79862 ENSG00000188295 OTTHUMG00000040869 uc001ice.3 NM_024804 "CCDS31088|CCDS44345" Q96BR6 12477932 MGI:4867078 HGNC:25736 "ENST00000448299.7|NM_001142572.2" HGNC:28167 ZNF670 zinc finger protein 670 protein-coding gene gene with protein product Approved 1q44 01q44 MGC12466 Zinc fingers C2H2-type 28 2005-03-18 2023-01-20 93474 ENSG00000277462 OTTHUMG00000040868 uc001icd.3 NM_033213 CCDS31087 Q9BS34 12477932 MGI:3643456 RGD:1597136 HGNC:28167 "ENST00000366503.3|NM_033213.5" HGNC:49200 ZNF670-ZNF695 ZNF670-ZNF695 readthrough (NMD candidate) other readthrough Approved 1q44 01q44 2013-09-30 2015-08-17 100533111 ENSG00000135747 OTTHUMG00000187277 NR_037894 HGNC:49200 HGNC:26279 ZNF671 zinc finger protein 671 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ23506 hypothetical protein FLJ23506 Zinc fingers C2H2-type 28 2005-03-25 2023-01-20 79891 ENSG00000083814 OTTHUMG00000183476 uc002qpz.5 NM_024833 CCDS12961 Q8TAW3 30633424 HGNC:26279 "ENST00000317398.10|NM_024833.3" HGNC:26179 ZNF672 zinc finger protein 672 protein-coding gene gene with protein product Approved 1q44 01q44 FLJ22301 hypothetical protein FLJ22301 Zinc fingers C2H2-type 28 2005-03-25 2023-01-20 79894 ENSG00000171161 OTTHUMG00000040377 uc001iex.4 AK027476 NM_024836 CCDS1638 Q499Z4 12477932 MGI:2442105 RGD:1359094 HGNC:26179 "ENST00000306562.8|NM_024836.3" -HGNC:17625 ZNF674 zinc finger protein 674 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 ZNF673B MRX92 Zinc fingers C2H2-type 28 2005-10-27 2010-09-15 2023-01-20 641339 ENSG00000251192 OTTHUMG00000021420 uc004dgr.4 AY971607 NM_001039891 "CCDS94605|CCDS48099|CCDS55406" Q2M3X9 16385466 300573 471368 HGNC:17625 "ENST00000683375.1|NM_001190417.2" HGNC:17625 +HGNC:17625 ZNF674 zinc finger protein 674 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 ZNF673B MRX92 Zinc fingers C2H2-type 28 2005-10-27 2010-09-15 2023-01-20 641339 ENSG00000251192 OTTHUMG00000021420 uc004dgr.4 AY971607 NM_001039891 "CCDS55406|CCDS94605|CCDS48099" Q2M3X9 16385466 300573 471368 HGNC:17625 "ENST00000683375.1|NM_001190417.2" HGNC:17625 HGNC:44266 ZNF674-AS1 ZNF674 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 "ZNF674 antisense RNA 1 (non-protein coding)|ZNF674 antisense RNA 1" Antisense RNAs 1987 2012-08-02 2012-10-17 2017-02-16 401588 ENSG00000230844 OTTHUMG00000021424 uc004dgs.6 "BC034616|DA707714" NR_015378 27896271 ZNF674-AS1 HGNC:44266 HGNC:30768 ZNF675 zinc finger protein 675 protein-coding gene gene with protein product Approved 19p12 19p12 "TIZ|TBZF" TRAF6 inhibitory zinc finger Zinc fingers C2H2-type 28 2005-03-28 2023-01-20 171392 ENSG00000197372 OTTHUMG00000183384 uc002nri.4 NM_138330 CCDS32981 Q8TD23 11751921 620090 471370 HGNC:30768 "ENST00000359788.9|NM_138330.3" HGNC:20429 ZNF676 zinc finger protein 676 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2005-03-30 2023-01-20 163223 ENSG00000196109 OTTHUMG00000182934 uc002nqs.2 AK097798 NM_001001411 CCDS42539 Q8N7Q3 "MGI:1920860|MGI:1924450|MGI:2652824|MGI:3036263|MGI:3036278|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:20429 "ENST00000397121.3|NM_001001411.3" -HGNC:28730 ZNF677 zinc finger protein 677 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC48625 hypothetical protein MGC48625 Zinc fingers C2H2-type 28 2005-03-31 2023-01-20 342926 ENSG00000197928 OTTHUMG00000182890 uc002qbg.2 BC050038 NM_182609 "CCDS12861|CCDS92680" Q86XU0 25504438 HGNC:28730 "ENST00000598513.6|NM_182609.4" +HGNC:28730 ZNF677 zinc finger protein 677 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC48625 hypothetical protein MGC48625 Zinc fingers C2H2-type 28 2005-03-31 2023-01-20 342926 ENSG00000197928 OTTHUMG00000182890 uc002qbg.2 BC050038 NM_182609 "CCDS92680|CCDS12861" Q86XU0 25504438 HGNC:28730 "ENST00000598513.6|NM_182609.4" HGNC:28652 ZNF678 zinc finger protein 678 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 MGC42493 hypothetical protein MGC42493 Zinc fingers C2H2-type 28 2005-03-31 2023-01-20 339500 ENSG00000181450 OTTHUMG00000037700 uc001hqw.3 BC042500 NM_178549 CCDS1560 Q5SXM1 12477932 "MGI:107767|MGI:3033356" HGNC:28652 "ENST00000343776.10|NM_001367909.1" HGNC:28650 ZNF679 zinc finger protein 679 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 MGC42415 hypothetical protein MGC42415 Zinc fingers C2H2-type 28 2005-03-31 2023-01-20 168417 ENSG00000197123 OTTHUMG00000156486 uc003tsx.3 BC033523 NM_153363 CCDS47592 Q8IYX0 12477932 "MGI:1918758|MGI:3701121" HGNC:28650 "ENST00000421025.3|NM_153363.3" -HGNC:26897 ZNF680 zinc finger protein 680 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 FLJ90430 hypothetical protein FLJ90430 Zinc fingers C2H2-type 28 2005-03-31 2023-01-20 340252 ENSG00000173041 OTTHUMG00000156542 uc003tta.3 AK074911 NM_178558 "CCDS34644|CCDS47594" Q8NEM1 12477932 HGNC:26897 "ENST00000309683.11|NM_178558.5" +HGNC:26897 ZNF680 zinc finger protein 680 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 FLJ90430 hypothetical protein FLJ90430 Zinc fingers C2H2-type 28 2005-03-31 2023-01-20 340252 ENSG00000173041 OTTHUMG00000156542 uc003tta.3 AK074911 NM_178558 "CCDS47594|CCDS34644" Q8NEM1 12477932 HGNC:26897 "ENST00000309683.11|NM_178558.5" HGNC:50379 ZNF680P1 ZNF680 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2014-04-24 2014-04-24 728947 ENSG00000228014 OTTHUMG00000156541 NG_022565 PGOHUM00000233359 HGNC:50379 HGNC:26457 ZNF681 zinc finger protein 681 protein-coding gene gene with protein product Approved 19p12 19p12 FLJ31526 hypothetical protein FLJ31526 Zinc fingers C2H2-type 28 2005-03-31 2023-01-20 148213 ENSG00000196172 OTTHUMG00000150831 uc002nrk.4 AK056088 NM_138286 CCDS12414 Q96N22 "MGI:2664334|MGI:3040707" HGNC:26457 "ENST00000402377.3|NM_138286.3" HGNC:28857 ZNF682 zinc finger protein 682 protein-coding gene gene with protein product Approved 19p12 19p12 BC39498_3 Zinc fingers C2H2-type 28 2005-03-31 2023-01-20 91120 ENSG00000197124 OTTHUMG00000182650 uc002noq.4 AC006539 NM_033196 "CCDS42534|CCDS42533" O95780 HGNC:28857 "ENST00000397165.7|NM_033196.3" @@ -43430,18 +43432,18 @@ HGNC:54048 ZNF687-AS1 ZNF687 antisense RNA 1 non-coding RNA RNA, long non-coding HGNC:30489 ZNF688 zinc finger protein 688 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 Zinc fingers C2H2-type 28 2005-05-09 2023-01-20 146542 ENSG00000229809 OTTHUMG00000132408 uc002dyt.4 AK122680 NM_145271 "CCDS10684|CCDS42151" P0C7X2 10493829 MGI:1916484 RGD:1310765 HGNC:30489 "ENST00000223459.11|NM_145271.4" HGNC:25173 ZNF689 zinc finger protein 689 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ90415|TIPUH1" Zinc fingers C2H2-type 28 2005-05-09 2023-01-20 115509 ENSG00000156853 OTTHUMG00000132415 uc002dyx.5 BC014000 NM_138447 CCDS10686 "C0HLU2|Q96CS4" 16568080 MGI:1918381 RGD:628696 618033 HGNC:25173 "ENST00000287461.8|NM_138447.3" HGNC:28028 ZNF691 zinc finger protein 691 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Zfp691 Zinc fingers C2H2-type 28 2005-05-13 2023-01-20 51058 ENSG00000164011 OTTHUMG00000007623 uc001cig.4 NM_015911 "CCDS55595|CCDS476" Q5VV52 "8619474|9110174" MGI:3041163 RGD:1308150 HGNC:28028 "ENST00000651192.1|NM_001242739.2" -HGNC:55800 ZNF691-DT ZNF691 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-07-29 2021-07-29 122152325 ENSG00000228192 -HGNC:26049 ZNF692 zinc finger protein 692 protein-coding gene gene with protein product Approved 1q44 01q44 "FLJ20531|Zfp692|AREBP" AICAR responsive element binding protein Zinc fingers C2H2-type 28 2005-05-13 2023-01-20 55657 ENSG00000171163 OTTHUMG00000040423 uc001ifc.3 BC002948 NM_017865 "CCDS44348|CCDS31127|CCDS53487" Q9BU19 17097062 MGI:2144276 RGD:1306740 617758 HGNC:26049 "ENST00000306601.9|NM_017865.4" -HGNC:55817 ZNF692-DT ZNF692 divergent transcript non-coding RNA RNA, long non-coding Approved 1q44 01q44 Divergent transcripts 1990 2021-07-30 2021-07-30 122152365 ENSG00000227237 +HGNC:55800 ZNF691-DT ZNF691 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-07-29 2021-07-29 122152325 ENSG00000228192 NR_186083 +HGNC:26049 ZNF692 zinc finger protein 692 protein-coding gene gene with protein product Approved 1q44 01q44 "FLJ20531|Zfp692|AREBP" AICAR responsive element binding protein Zinc fingers C2H2-type 28 2005-05-13 2023-01-20 55657 ENSG00000171163 OTTHUMG00000040423 uc001ifc.3 BC002948 NM_017865 "CCDS44348|CCDS53487|CCDS31127" Q9BU19 17097062 MGI:2144276 RGD:1306740 617758 HGNC:26049 "ENST00000306601.9|NM_017865.4" +HGNC:55817 ZNF692-DT ZNF692 divergent transcript non-coding RNA RNA, long non-coding Approved 1q44 01q44 Divergent transcripts 1990 2021-07-30 2021-07-30 122152365 ENSG00000227237 NR_186117 HGNC:30954 ZNF695 zinc finger protein 695 protein-coding gene gene with protein product Approved 1q44 01q44 SBZF3 Zinc fingers C2H2-type 28 2005-05-23 2023-01-20 57116 ENSG00000197472 OTTHUMG00000040707 uc009xgu.4 NM_020394 "CCDS55694|CCDS44344" Q8IW36 24007497 616348 HGNC:30954 "ENST00000339986.8|NM_020394.5" HGNC:25872 ZNF696 zinc finger protein 696 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ14129 Zinc fingers C2H2-type 28 2005-05-30 2023-01-20 79943 ENSG00000185730 OTTHUMG00000164957 uc003yxy.5 AK024191 NM_030895 CCDS6399 Q9H7X3 "MGI:2442738|MGI:3652325" HGNC:25872 "ENST00000330143.8|NM_030895.3" HGNC:32034 ZNF697 zinc finger protein 697 protein-coding gene gene with protein product Approved 1p12 01p12 MGC45731 Zinc fingers C2H2-type 28 2005-07-05 2023-01-20 90874 ENSG00000143067 OTTHUMG00000012962 uc001ehy.2 "AK027019|BC033126" NM_001080470 CCDS44202 Q5TEC3 MGI:2139736 RGD:1308711 HGNC:32034 "ENST00000421812.3|NM_001080470.2" HGNC:24750 ZNF699 zinc finger protein 699 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ38144|hang" Zinc fingers C2H2-type 28 2005-08-11 2023-01-20 374879 ENSG00000196110 OTTHUMG00000179941 uc060syk.1 BC109268 NM_198535 CCDS42495 Q32M78 16940975 RGD:1564241 609571 HGNC:24750 "ENST00000591998.6|NM_198535.3" -HGNC:25292 ZNF700 zinc finger protein 700 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 DKFZp434I1610 Zinc fingers C2H2-type 28 2005-08-11 2023-01-20 90592 ENSG00000196757 OTTHUMG00000156421 uc002msu.5 AL136732 NM_144566 "CCDS74289|CCDS32915" Q9H0M5 "MGI:2443934|MGI:3642406|MGI:3779761|MGI:5011613|MGI:5590873" RGD:2318899 HGNC:25292 "ENST00000254321.10|NM_144566.3" +HGNC:25292 ZNF700 zinc finger protein 700 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 DKFZp434I1610 Zinc fingers C2H2-type 28 2005-08-11 2023-01-20 90592 ENSG00000196757 OTTHUMG00000156421 uc002msu.5 AL136732 NM_144566 "CCDS32915|CCDS74289" Q9H0M5 "MGI:2443934|MGI:3642406|MGI:3779761|MGI:5011613|MGI:5590873" RGD:2318899 HGNC:25292 "ENST00000254321.10|NM_144566.3" HGNC:25597 ZNF701 zinc finger protein 701 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ10891 Zinc fingers C2H2-type 28 2005-08-12 2023-01-20 55762 ENSG00000167562 OTTHUMG00000182754 uc002pzs.3 AK001753 NM_018260 "CCDS54311|CCDS33092" Q9NV72 HGNC:25597 "ENST00000391785.8|NM_018260.3" HGNC:25775 ZNF702P zinc finger protein 702, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 FLJ12985 ZNF702 "zinc finger protein 702|zinc finger protein 702 pseudogene|zinc finger protein 702 (pseudogene)" 2005-08-12 2008-07-03 2010-08-03 2023-03-15 79986 ENSG00000242779 OTTHUMG00000150515 NR_003578 Q9H963 HGNC:25775 HGNC:25883 ZNF703 zinc finger protein 703 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "FLJ14299|ZNF503L|NLZ1|Zpo1|ZEPPO1" zinc finger elbow-related proline domain protein 1 Zinc fingers C2H2-type 28 2005-08-16 2023-01-20 80139 ENSG00000183779 OTTHUMG00000164001 uc003xjy.2 AK024361 NM_025069 CCDS6094 Q9H7S9 "15897872|21317240" MGI:2662729 RGD:1588249 617045 HGNC:25883 "ENST00000331569.6|NM_025069.3" -HGNC:32291 ZNF704 zinc finger protein 704 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "FLJ16218|Gig1" Zinc fingers C2H2-type 28 2005-09-27 2023-01-20 619279 ENSG00000164684 OTTHUMG00000164733 uc003yby.2 AK131274 NM_001033723 "CCDS94322|CCDS34913" Q6ZNC4 MGI:2180715 RGD:1563869 HGNC:32291 "ENST00000327835.7|NM_001033723.3" +HGNC:32291 ZNF704 zinc finger protein 704 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "FLJ16218|Gig1" Zinc fingers C2H2-type 28 2005-09-27 2023-01-20 619279 ENSG00000164684 OTTHUMG00000164733 uc003yby.2 AK131274 NM_001033723 "CCDS34913|CCDS94322" Q6ZNC4 MGI:2180715 RGD:1563869 HGNC:32291 "ENST00000327835.7|NM_001033723.3" HGNC:32281 ZNF705A zinc finger protein 705A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 FLJ16353 Zinc fingers C2H2-type 28 2005-09-22 2005-09-22 2023-01-20 440077 ENSG00000196946 OTTHUMG00000168635 uc058kvq.1 AK131339 NM_001004328 CCDS31737 Q6ZN79 MGI:3036291 RGD:1359109 HGNC:32281 "ENST00000396570.8|NM_001004328.3" HGNC:32284 ZNF705B zinc finger protein 705B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 Zinc fingers C2H2-type 28 2005-09-22 2023-01-20 100132396 ENSG00000215356 OTTHUMG00000165401 uc010lro.1 NM_001193630 CCDS55194 P0CI00 HGNC:32284 "ENST00000400120.3|NM_001193630.1" HGNC:32283 ZNF705CP zinc finger protein 705C, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 ZNF705C zinc finger protein 705C (pseudogene) Zinc fingers C2H2-type 28 2005-09-22 2015-05-27 2012-09-17 2015-05-27 389631 ENSG00000215339 OTTHUMG00000165457 NG_005518 HGNC:32283 @@ -43455,17 +43457,17 @@ HGNC:20629 ZNF709 zinc finger protein 709 protein-coding gene gene with protein HGNC:25352 ZNF710 zinc finger protein 710 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "DKFZp547K1113|FLJ37393|FLJ00306" "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 2005-10-30 2023-01-20 374655 ENSG00000140548 OTTHUMG00000149812 uc002bov.3 AK094712 NM_198526 CCDS10358 Q8N1W2 MGI:1921747 RGD:1306491 HGNC:25352 "ENST00000268154.9|NM_198526.4" HGNC:53141 ZNF710-AS1 ZNF710 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 ENST00000558334 Antisense RNAs 1987 2017-02-16 2017-02-16 109729181 ENSG00000259291 OTTHUMG00000172032 NR_146321 27816668 HGNC:53141 HGNC:13128 ZNF711 zinc finger protein 711 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "CMPX1|ZNF4|ZNF5|dJ75N13.1|Zfp711|MRX97" "ZNF6|MRX65" "zinc finger protein 6 (CMPX1)|zinc finger protein 6|mental retardation, X-linked 65" Zinc fingers C2H2-type 28 1989-05-31 2006-06-29 2006-06-29 2023-01-20 7552 ENSG00000147180 OTTHUMG00000021933 uc004eeo.4 BC006349 NM_021998 "CCDS83481|CCDS35344" Q9Y462 "19377476|27993705" MGI:3045342 RGD:1562768 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF711 314990 290194 HGNC:13128 "ENST00000674551.1|NM_001330574.2" HGNC:13128 -HGNC:22043 ZNF713 zinc finger protein 713 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 FLJ39963 Zinc fingers C2H2-type 28 2006-01-20 2023-01-20 349075 ENSG00000178665 OTTHUMG00000156175 uc003trc.3 AK097282 NM_182633 "CCDS34639|CCDS94106" Q8N859 616181 HGNC:22043 "ENST00000429591.4|NM_182633.3" HGNC:22043 +HGNC:22043 ZNF713 zinc finger protein 713 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 FLJ39963 Zinc fingers C2H2-type 28 2006-01-20 2023-01-20 349075 ENSG00000178665 OTTHUMG00000156175 uc003trc.3 AK097282 NM_182633 "CCDS94106|CCDS34639" Q8N859 616181 HGNC:22043 "ENST00000429591.4|NM_182633.3" HGNC:22043 HGNC:27124 ZNF714 zinc finger protein 714 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2006-01-17 2023-01-20 148206 ENSG00000160352 OTTHUMG00000182833 uc032hqo.2 AK056006 NM_182515 CCDS54239 Q96N38 12477932 HGNC:27124 "ENST00000456283.7|NM_182515.4" HGNC:32458 ZNF716 zinc finger protein 716 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 FLJ46189 Zinc fingers C2H2-type 28 2006-01-17 2023-01-20 441234 ENSG00000182111 OTTHUMG00000156689 uc011kdi.2 AK131575 NM_001159279 CCDS55112 A6NP11 "MGI:1919389|MGI:1924053|MGI:2385298|MGI:2675306|MGI:3642994|MGI:3644409|MGI:3644476|MGI:3652325|MGI:3809656" HGNC:32458 "ENST00000420713.2|NM_001159279.1" -HGNC:29448 ZNF717 zinc finger protein 717 protein-coding gene gene with protein product Approved 3p12.3 03p12.3 X17 ZNF838 zinc finger protein 838 Zinc fingers C2H2-type 28 2005-11-28 2023-03-15 100131827 ENSG00000227124 OTTHUMG00000158965 uc062lpg.1 AF226994 NM_001128223 "CCDS77774|CCDS77773" Q9BY31 MGI:99183 RGD:1306633 618405 HGNC:29448 "ENST00000652011.2|NM_001290208.3" -HGNC:26889 ZNF718 zinc finger protein 718 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ90036 Zinc fingers C2H2-type 28 2006-01-20 2023-03-15 255403 ENSG00000250312 OTTHUMG00000159873 uc032tae.2 AK096662 NM_001039127 "CCDS75078|CCDS75079" Q3SXZ3 HGNC:26889 "ENST00000510175.6|NM_001039127.6" +HGNC:29448 ZNF717 zinc finger protein 717 protein-coding gene gene with protein product Approved 3p12.3 03p12.3 X17 ZNF838 zinc finger protein 838 Zinc fingers C2H2-type 28 2005-11-28 2023-03-15 100131827 ENSG00000227124 OTTHUMG00000158965 uc062lpg.1 AF226994 NM_001128223 "CCDS77773|CCDS77774" Q9BY31 MGI:99183 RGD:1306633 618405 HGNC:29448 "ENST00000652011.2|NM_001290208.3" +HGNC:26889 ZNF718 zinc finger protein 718 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ90036 Zinc fingers C2H2-type 28 2006-01-20 2023-03-15 255403 ENSG00000250312 OTTHUMG00000159873 uc032tae.2 AK096662 NM_001039127 "CCDS75079|CCDS75078" Q3SXZ3 HGNC:26889 "ENST00000510175.6|NM_001039127.6" HGNC:29425 ZNF721 zinc finger protein 721 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 KIAA1982 Zinc fingers C2H2-type 28 2006-01-17 2023-01-20 170960 ENSG00000182903 OTTHUMG00000112450 uc003gag.5 AK092362 NM_133474 CCDS46991 Q8TF20 11853319 MGI:1916455 HGNC:29425 "ENST00000511833.3|NM_133474.4" HGNC:22571 ZNF722 zinc finger protein 722 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 ZNF722P zinc finger protein 722, pseudogene Zinc fingers C2H2-type 28 2006-01-20 2021-09-24 2021-09-24 2023-01-20 100419780 ENSG00000241149 OTTHUMG00000156485 NM_001396012 CCDS94108 A0A1W2PQL4 21738707 "MGI:1918758|MGI:3701121" HGNC:22571 "ENST00000330020.5|NM_001396012.1" -HGNC:32286 ZNF723 zinc finger protein 723 protein-coding gene gene with protein product Approved 19p12 19p12 ZNF723P zinc finger protein 723, pseudogene Zinc fingers C2H2-type 28 2006-06-30 2017-03-30 2017-03-30 2023-01-20 646864 ENSG00000268696 OTTHUMG00000183120 DQ048837 NM_001349726 CCDS86735 P0DPD5 RGD:1587849 HGNC:32286 "ENST00000600766.3|NM_001349726.2" +HGNC:32286 ZNF723 zinc finger protein 723 protein-coding gene gene with protein product Approved 19p12 19p12 ZNF723P zinc finger protein 723, pseudogene Zinc fingers C2H2-type 28 2006-06-30 2017-03-30 2017-03-30 2023-01-20 646864 ENSG00000268696 OTTHUMG00000183120 DQ048837 NM_001349726 CCDS86735 P0DPD5 HGNC:32286 "ENST00000600766.3|NM_001349726.2" HGNC:32460 ZNF724 zinc finger protein 724 protein-coding gene gene with protein product Approved 19p12 19p12 ZNF724P "zinc finger protein 724 pseudogene|zinc finger protein 724 (pseudogene)|zinc finger protein 724, pseudogene" Zinc fingers C2H2-type 28 2006-06-30 2016-07-19 2016-07-19 2023-01-20 440519 ENSG00000196081 OTTHUMG00000191860 uc060wjr.1 NM_001355404 CCDS86737 A8MTY0 "MGI:2664334|MGI:3040707" HGNC:32460 "ENST00000418100.6|NM_001355404.2" HGNC:32461 ZNF725P zinc finger protein 725, pseudogene pseudogene pseudogene Approved 19p12 19p12 ZNF725 zinc finger protein 725 2006-06-30 2012-04-20 2012-04-20 2021-04-27 100128853 ENSG00000268100 OTTHUMG00000183274 NG_011783 PGOHUM00000294962 HGNC:32461 -HGNC:32462 ZNF726 zinc finger protein 726 protein-coding gene gene with protein product Approved 19p12 19p12 ZNF92P3 zinc finger protein 92 pseudogene 3 Zinc fingers C2H2-type 28 2006-06-30 2023-01-20 730087 ENSG00000213967 OTTHUMG00000167681 uc060wlk.1 "DQ036016|BC046415" NM_001348689 "CCDS54241|CCDS59372|CCDS86738|CCDS86739" A6NNF4 "MGI:1920860|MGI:1924450|MGI:1925501|MGI:2652824|MGI:3036263|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:32462 "ENST00000594466.6|NM_001244038.2" +HGNC:32462 ZNF726 zinc finger protein 726 protein-coding gene gene with protein product Approved 19p12 19p12 ZNF92P3 zinc finger protein 92 pseudogene 3 Zinc fingers C2H2-type 28 2006-06-30 2023-01-20 730087 ENSG00000213967 OTTHUMG00000167681 uc060wlk.1 "DQ036016|BC046415" NM_001348689 "CCDS86738|CCDS54241|CCDS86739|CCDS59372" A6NNF4 "MGI:1920860|MGI:1924450|MGI:1925501|MGI:2652824|MGI:3036263|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" HGNC:32462 "ENST00000594466.6|NM_001244038.2" HGNC:13136 ZNF726P1 zinc finger protein 726 pseudogene 1 pseudogene pseudogene Approved 19p13.1 19p13.1 "ZNF67|ZNF67P" "zinc finger protein 67|zinc finger protein 67, pseudogene" 1991-10-08 2011-04-07 2011-04-07 2021-04-27 7618 M88376 NG_055543 Q15940 1505991 PGOHUM00000250601 HGNC:13136 HGNC:22785 ZNF727 zinc finger protein 727 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 ZNF727P zinc finger protein 727, pseudogene Zinc fingers C2H2-type 28 2008-06-13 2014-09-09 2014-09-09 2023-01-20 442319 ENSG00000214652 OTTHUMG00000156536 uc011kdm.2 NM_001159522 CCDS55113 A8MUV8 HGNC:22785 "ENST00000456806.3|NM_001159522.3" HGNC:32463 ZNF728 zinc finger protein 728 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2006-06-30 2023-01-20 388523 ENSG00000269067 OTTHUMG00000183124 uc002nqz.3 BC128130 NM_001267716 CCDS59370 P0DKX0 "MGI:1920860|MGI:1924450|MGI:2652824|MGI:3036263|MGI:3642406|MGI:3650082|MGI:3651999|MGI:3652002|MGI:3652251|MGI:3652255|MGI:3652324|MGI:3781781|MGI:5591846|MGI:5804986" RGD:1587241 HGNC:32463 "ENST00000594710.2|NM_001267716.2" @@ -43490,32 +43492,32 @@ HGNC:38410 ZNF736P10Y zinc finger protein 736 pseudogene 10, Y-linked pseudogene HGNC:38426 ZNF736P11Y zinc finger protein 736 pseudogene 11, Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-06-28 2014-11-19 100419730 ENSG00000215537 OTTHUMG00000043857 NG_024779 PGOHUM00000233821 HGNC:38426 HGNC:38431 ZNF736P12Y zinc finger protein 736 pseudogene 12, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-06-28 2014-11-19 100419731 ENSG00000232003 OTTHUMG00000045107 NG_024785 PGOHUM00000233853 HGNC:38431 HGNC:32468 ZNF737 zinc finger protein 737 protein-coding gene gene with protein product Approved 19p12 19p12 ZNF102 Zinc fingers C2H2-type 28 2007-05-31 2023-01-20 100129842 ENSG00000237440 OTTHUMG00000179732 uc002npa.4 BC015765 NM_145289 CCDS54238 O75373 603984 HGNC:32468 "ENST00000427401.9|NM_001159293.2" -HGNC:32469 ZNF738 zinc finger protein 738 protein-coding gene gene with protein product Approved 19p12 19p12 2006-08-18 2023-01-20 148203 ENSG00000172687 OTTHUMG00000141298 uc002nps.5 BC034499 NM_001355237 "CCDS92573|CCDS86733|CCDS86732" Q8NE65 MGI:3645096 HGNC:32469 "ENST00000683779.1|NM_001355237.2" +HGNC:32469 ZNF738 zinc finger protein 738 protein-coding gene gene with protein product Approved 19p12 19p12 2006-08-18 2023-01-20 148203 ENSG00000172687 OTTHUMG00000141298 uc002nps.5 BC034499 NM_001355237 "CCDS86733|CCDS92573|CCDS86732" Q8NE65 MGI:3645096 HGNC:32469 "ENST00000683779.1|NM_001355237.2" HGNC:27465 ZNF740 zinc finger protein 740 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Zfp740 Zinc fingers C2H2-type 28 2006-01-27 2023-01-20 283337 ENSG00000139651 OTTHUMG00000170027 uc001scb.5 BC053557 NM_001004304 CCDS44896 Q8NDX6 MGI:1915994 RGD:1589052 HGNC:27465 "ENST00000416904.5|NM_001004304.4" -HGNC:21948 ZNF746 zinc finger protein 746 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "FLJ31413|PARIS" parkin interacting substrate Zinc fingers C2H2-type 28 2006-03-20 2023-01-20 155061 ENSG00000181220 OTTHUMG00000158972 uc003wfw.3 AK055975 NM_152557 "CCDS5897|CCDS55180|CCDS87562|CCDS94227" Q6NUN9 21376232 MGI:1916478 RGD:1306209 613914 HGNC:21948 "ENST00000458143.7|NM_001394198.1" -HGNC:28350 ZNF747 zinc finger protein 747 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC2474 Zinc fingers C2H2-type 28 2006-03-24 2023-01-20 65988 ENSG00000169955 OTTHUMG00000132401 uc059tfj.1 BC001361 NM_023931 "CCDS10682|CCDS92140|CCDS76855|CCDS76856" Q9BV97 10493829 RGD:7540019 HGNC:28350 "ENST00000693075.1|NM_001305018.2" +HGNC:21948 ZNF746 zinc finger protein 746 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "FLJ31413|PARIS" parkin interacting substrate Zinc fingers C2H2-type 28 2006-03-20 2023-01-20 155061 ENSG00000181220 OTTHUMG00000158972 uc003wfw.3 AK055975 NM_152557 "CCDS5897|CCDS94227|CCDS87562|CCDS55180" Q6NUN9 21376232 MGI:1916478 RGD:1306209 613914 HGNC:21948 "ENST00000458143.7|NM_001394198.1" +HGNC:28350 ZNF747 zinc finger protein 747 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC2474 Zinc fingers C2H2-type 28 2006-03-24 2023-01-20 65988 ENSG00000169955 OTTHUMG00000132401 uc059tfj.1 BC001361 NM_023931 "CCDS92140|CCDS76856|CCDS10682|CCDS76855" Q9BV97 10493829 RGD:7540019 HGNC:28350 "ENST00000693075.1|NM_001305018.2" HGNC:55668 ZNF747-DT ZNF747 divergent transcript non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 AC002310.12 Divergent transcripts 1990 2021-06-30 2021-12-03 107984875 ENSG00000235560 NR_184306 HGNC:32783 ZNF749 zinc finger protein 749 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ16360 Zinc fingers C2H2-type 28 2006-05-10 2023-01-20 388567 ENSG00000186230 OTTHUMG00000150372 uc002qoq.3 AK122740 NM_001023561 CCDS33132 O43361 HGNC:32783 "ENST00000334181.5|NM_001023561.4" HGNC:25843 ZNF750 zinc finger protein 750 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ13841|Zfp750" Zinc fingers 26 2006-06-07 2023-01-20 79755 ENSG00000141579 OTTHUMG00000177822 uc002kga.4 AK023903 NM_024702 CCDS11819 Q32MQ0 16751772 MGI:2442210 RGD:1590044 610226 173226 HGNC:25843 "ENST00000269394.4|NM_024702.3" HGNC:25843 HGNC:23179 ZNF761 zinc finger protein 761 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "KIAA2033|FLJ16231|FLJ35333" Zinc fingers C2H2-type 28 2006-06-30 2006-08-11 2006-08-11 2023-03-15 388561 ENSG00000160336 OTTHUMG00000156999 uc032icc.1 AB107355 NM_001008401 CCDS77353 Q86XN6 MGI:99198 HGNC:23179 "ENST00000684525.1|NM_001289951.2" -HGNC:27614 ZNF763 zinc finger protein 763 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 ZNF440L Zinc fingers C2H2-type 28 2006-08-14 2006-08-14 2023-01-20 284390 ENSG00000197054 OTTHUMG00000156430 uc002msv.4 AK092240 NM_001012753 "CCDS45982|CCDS92522" Q0D2J5 HGNC:27614 "ENST00000358987.8|NM_001367172.2" -HGNC:28200 ZNF764 zinc finger protein 764 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC13138 Zinc fingers C2H2-type 28 2006-08-14 2023-01-20 92595 ENSG00000169951 OTTHUMG00000132406 uc002dyq.4 BC008821 NM_033410 "CCDS54001|CCDS10683" Q96H86 22577170 MGI:2443580 RGD:1594599 619524 HGNC:28200 "ENST00000395091.3|NM_001172679.2" +HGNC:27614 ZNF763 zinc finger protein 763 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 ZNF440L Zinc fingers C2H2-type 28 2006-08-14 2006-08-14 2023-01-20 284390 ENSG00000197054 OTTHUMG00000156430 uc002msv.4 AK092240 NM_001012753 "CCDS92522|CCDS45982" Q0D2J5 HGNC:27614 "ENST00000358987.8|NM_001367172.2" +HGNC:28200 ZNF764 zinc finger protein 764 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC13138 Zinc fingers C2H2-type 28 2006-08-14 2023-01-20 92595 ENSG00000169951 OTTHUMG00000132406 uc002dyq.4 BC008821 NM_033410 "CCDS10683|CCDS54001" Q96H86 22577170 MGI:2443580 RGD:1594599 619524 HGNC:28200 "ENST00000395091.3|NM_001172679.2" HGNC:25092 ZNF765 zinc finger protein 765 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Zinc fingers C2H2-type 28 2006-08-14 2023-01-20 91661 ENSG00000196417 OTTHUMG00000163079 uc002qbm.4 BC017357 NM_138372 CCDS46171 Q7L2R6 12477932 HGNC:25092 "ENST00000396408.8|NM_001040185.3" HGNC:28063 ZNF766 zinc finger protein 766 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 2006-08-14 2023-01-20 90321 ENSG00000196214 OTTHUMG00000182629 uc002pyr.2 AK024074 NM_001010851 CCDS46163 Q5HY98 HGNC:28063 "ENST00000439461.6|NM_001010851.3" HGNC:21884 ZNF767P zinc finger family member 767, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 FLJ12700 ZNF767 zinc finger family member 767 Zinc fingers C2H2-type 28 2006-08-14 2014-03-20 2014-03-20 2023-03-15 79970 ENSG00000133624 OTTHUMG00000158976 AK022762 NR_027788 Q75MW2 MGI:1916478 HGNC:21884 HGNC:26273 ZNF768 zinc finger protein 768 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ23436 Zinc fingers C2H2-type 28 2006-08-14 2023-01-20 79724 ENSG00000169957 OTTHUMG00000132392 uc002dyk.4 BC013760 NM_024671 CCDS10681 Q9H5H4 25875936 MGI:2384582 RGD:7609558 618032 HGNC:26273 "ENST00000380412.7|NM_024671.4" HGNC:26061 ZNF770 zinc finger protein 770 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ20582|PRO1914" Zinc fingers C2H2-type 28 2006-08-14 2023-01-20 54989 ENSG00000198146 OTTHUMG00000129689 uc001ziw.4 BC071603 NM_014106 CCDS10042 Q6IQ21 MGI:2445100 RGD:1597283 HGNC:26061 "ENST00000356321.4|NM_014106.4" HGNC:29653 ZNF771 zinc finger protein 771 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 DSC43 Zinc fingers C2H2-type 28 2006-08-14 2023-01-20 51333 ENSG00000179965 OTTHUMG00000176985 uc002dyd.4 BC026192 NM_016643 CCDS45460 Q7L3S4 12477932 MGI:2442050 RGD:1305903 HGNC:29653 "ENST00000319296.10|NM_001142305.2" -HGNC:33106 ZNF772 zinc finger protein 772 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 DKFZp686I1569 Zinc fingers C2H2-type 28 2006-08-14 2023-01-20 400720 ENSG00000197128 OTTHUMG00000168007 uc002qot.3 BX647068 NM_001024596 "CCDS82406|CCDS46210|CCDS33133" Q68DY9 HGNC:33106 "ENST00000356584.8|NM_001144068.2" -HGNC:30487 ZNF773 zinc finger protein 773 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC4728 ZNF419B zinc finger protein 419B Zinc fingers C2H2-type 28 2006-08-15 2006-12-15 2006-12-15 2023-01-20 374928 ENSG00000152439 OTTHUMG00000183403 uc002qox.4 BC005167 NM_198542 "CCDS33134|CCDS77368|CCDS77369" Q6PK81 12477932 MGI:2385265 RGD:7559893 HGNC:30487 "ENST00000282292.9|NM_198542.3" +HGNC:33106 ZNF772 zinc finger protein 772 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 DKFZp686I1569 Zinc fingers C2H2-type 28 2006-08-14 2023-01-20 400720 ENSG00000197128 OTTHUMG00000168007 uc002qot.3 BX647068 NM_001024596 "CCDS82406|CCDS33133|CCDS46210" Q68DY9 HGNC:33106 "ENST00000356584.8|NM_001144068.2" +HGNC:30487 ZNF773 zinc finger protein 773 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC4728 ZNF419B zinc finger protein 419B Zinc fingers C2H2-type 28 2006-08-15 2006-12-15 2006-12-15 2023-01-20 374928 ENSG00000152439 OTTHUMG00000183403 uc002qox.4 BC005167 NM_198542 "CCDS33134|CCDS77369|CCDS77368" Q6PK81 12477932 MGI:2385265 RGD:7559893 HGNC:30487 "ENST00000282292.9|NM_198542.3" HGNC:33108 ZNF774 zinc finger protein 774 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 MGC75360 Zinc fingers C2H2-type 28 2006-08-15 2023-01-20 342132 ENSG00000196391 OTTHUMG00000172359 uc002bpk.5 BC067279 NM_001004309 CCDS32330 Q6NX45 HGNC:33108 "ENST00000354377.8|NM_001004309.3" HGNC:28501 ZNF775 zinc finger protein 775 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 MGC33584 Zinc fingers C2H2-type 28 2006-08-15 2023-01-20 285971 ENSG00000196456 OTTHUMG00000191597 uc003whf.2 BC038111 NM_173680 CCDS43678 Q96BV0 12477932 MGI:2683557 RGD:1304910 HGNC:28501 "ENST00000329630.10|NM_173680.4" HGNC:41202 ZNF775-AS1 ZNF775 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 Antisense RNAs 1987 2020-04-16 2020-04-16 105375564 ENSG00000239377 OTTHUMG00000158329 NR_183445 HGNC:26765 ZNF776 zinc finger protein 776 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ38288 Zinc fingers C2H2-type 28 2006-08-15 2023-01-20 284309 ENSG00000152443 OTTHUMG00000156943 uc002qqa.3 AK095607 NM_173632 CCDS12962 Q68DI1 HGNC:26765 "ENST00000317178.10|NM_173632.4" HGNC:22213 ZNF777 zinc finger protein 777 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 KIAA1285 Zinc fingers C2H2-type 28 2006-08-15 2023-01-20 27153 ENSG00000196453 OTTHUMG00000158967 uc003wfv.4 AB033111 NM_015694 CCDS43675 Q9ULD5 MGI:1919556 RGD:1566056 619298 HGNC:22213 "ENST00000247930.5|NM_015694.3" -HGNC:26479 ZNF778 zinc finger protein 778 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 FLJ31875 Zinc fingers C2H2-type 28 2006-08-15 2023-01-20 197320 ENSG00000170100 OTTHUMG00000175526 uc002fmv.4 AK056437 NM_182531 "CCDS45550|CCDS73928" Q96MU6 MGI:99173 RGD:1565847 LRG_284|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_284.xml HGNC:26479 "ENST00000433976.7|NM_001201407.2" +HGNC:26479 ZNF778 zinc finger protein 778 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 FLJ31875 Zinc fingers C2H2-type 28 2006-08-15 2023-01-20 197320 ENSG00000170100 OTTHUMG00000175526 uc002fmv.4 AK056437 NM_182531 "CCDS73928|CCDS45550" Q96MU6 MGI:99173 RGD:1565847 LRG_284|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_284.xml HGNC:26479 "ENST00000433976.7|NM_001201407.2" HGNC:56034 ZNF778-DT ZNF778 divergent transcript non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 RP5-821D11.7 Divergent transcripts 1990 2021-12-06 2022-01-05 123706547 ENSG00000259877 34952030 -HGNC:27603 ZNF780A zinc finger protein 780A protein-coding gene gene with protein product Approved 19q13.2 19q13.2 ZNF780 Zinc fingers C2H2-type 28 2006-08-15 2006-08-15 2023-01-20 284323 ENSG00000197782 OTTHUMG00000155119 uc002omy.4 AK091274 NM_001010880 "CCDS33026|CCDS46078|CCDS46079" O75290 "MGI:99206|MGI:99207|MGI:1918413|MGI:1920680|MGI:2148237|MGI:3036281|MGI:3584526" HGNC:27603 "ENST00000683561.1|NM_001142578.2" +HGNC:27603 ZNF780A zinc finger protein 780A protein-coding gene gene with protein product Approved 19q13.2 19q13.2 ZNF780 Zinc fingers C2H2-type 28 2006-08-15 2006-08-15 2023-01-20 284323 ENSG00000197782 OTTHUMG00000155119 uc002omy.4 AK091274 NM_001010880 "CCDS46079|CCDS33026|CCDS46078" O75290 "MGI:99206|MGI:99207|MGI:1918413|MGI:1920680|MGI:2148237|MGI:3036281|MGI:3584526" HGNC:27603 "ENST00000683561.1|NM_001142578.2" HGNC:33109 ZNF780B zinc finger protein 780B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 ZNF779 zinc finger protein 779 Zinc fingers C2H2-type 28 2006-08-15 2006-08-15 2023-01-20 163131 ENSG00000128000 OTTHUMG00000155118 uc060yoj.1 AK127063 NM_001005851 CCDS46077 Q9Y6R6 "MGI:99206|MGI:1920680|MGI:2444764" RGD:6500398 HGNC:33109 "ENST00000434248.6|NM_001005851.3" HGNC:26745 ZNF781 zinc finger protein 781 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ37549 Zinc fingers C2H2-type 28 2006-08-15 2023-03-15 163115 ENSG00000196381 OTTHUMG00000182106 uc002ogy.3 AK097019 NM_152605 Q8N8C0 MGI:2444324 HGNC:26745 HGNC:33110 ZNF782 zinc finger protein 782 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 FLJ16636 Zinc fingers C2H2-type 28 2006-08-16 2023-01-20 158431 ENSG00000196597 OTTHUMG00000020310 uc004awp.2 AK131468 NM_001001662 CCDS35075 Q6ZMW2 RGD:7541917 HGNC:33110 "ENST00000481138.6|NM_001001662.3" @@ -43523,7 +43525,7 @@ HGNC:27222 ZNF783 zinc finger protein 783 protein-coding gene gene with protein HGNC:33111 ZNF784 zinc finger protein 784 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC75238 Zinc fingers C2H2-type 28 2006-08-16 2023-01-20 147808 ENSG00000179922 OTTHUMG00000180860 uc002qll.2 AK074859 NM_203374 CCDS12930 Q8NCA9 MGI:3606042 RGD:1565545 HGNC:33111 "ENST00000325351.5|NM_203374.2" HGNC:26496 ZNF785 zinc finger protein 785 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ32130 Zinc fingers C2H2-type 28 2006-08-16 2023-01-20 146540 ENSG00000197162 OTTHUMG00000176950 uc002dyw.3 BC040642 NM_152458 CCDS10685 A8K8V0 10493829 HGNC:26496 "ENST00000395216.3|NM_152458.7" HGNC:21806 ZNF786 zinc finger protein 786 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 DKFZp762I137 Zinc fingers C2H2-type 28 2006-08-16 2023-01-20 136051 ENSG00000197362 OTTHUMG00000158975 uc003wfh.3 "AK095701|AL834510" NM_152411 CCDS47738 Q8N393 MGI:3026883 RGD:2293500 HGNC:21806 "ENST00000491431.2|NM_152411.4" -HGNC:26998 ZNF787 zinc finger protein 787 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2006-08-16 2023-01-20 126208 ENSG00000142409 OTTHUMG00000181760 uc032igd.1 "BC077728|AF000560" NM_001002836 "CCDS42634|CCDS86810" Q6DD87 MGI:1914359 RGD:1310536 HGNC:26998 "ENST00000610935.2|NM_001002836.4" +HGNC:26998 ZNF787 zinc finger protein 787 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2006-08-16 2023-01-20 126208 ENSG00000142409 OTTHUMG00000181760 uc032igd.1 "BC077728|AF000560" NM_001002836 "CCDS86810|CCDS42634" Q6DD87 MGI:1914359 RGD:1310536 HGNC:26998 "ENST00000610935.2|NM_001002836.4" HGNC:33112 ZNF788P zinc finger family member 788, pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 FLJ46419 ZNF788 zinc finger family member 788 Zinc fingers C2H2-type 28 2006-08-16 2018-02-01 2018-02-01 2021-04-27 388507 ENSG00000214189 OTTHUMG00000156416 uc060txj.1 AI566055 XM_930581 Q6ZQV5 "MGI:2444323|MGI:3643396|MGI:3706570" RGD:727944 HGNC:33112 HGNC:27801 ZNF789 zinc finger protein 789 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Zinc fingers C2H2-type 28 2006-08-17 2023-01-20 285989 ENSG00000198556 OTTHUMG00000154601 uc003uqq.2 AK093141 NM_213603 "CCDS34694|CCDS34693" Q5FWF6 12477932 HGNC:27801 "ENST00000331410.10|NM_213603.3" HGNC:33114 ZNF790 zinc finger protein 790 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "MGC62100|FLJ20350" Zinc fingers C2H2-type 28 2006-08-17 2023-01-20 388536 ENSG00000197863 OTTHUMG00000165616 uc021utm.1 BC057245 NM_206894 CCDS12496 Q6PG37 MGI:1923431 RGD:150344952 HGNC:33114 "ENST00000356725.9|NM_206894.4" @@ -43532,13 +43534,13 @@ HGNC:26895 ZNF791 zinc finger protein 791 protein-coding gene gene with protein HGNC:24751 ZNF792 zinc finger protein 792 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 FLJ38451 Zinc fingers C2H2-type 28 2006-08-17 2023-01-20 126375 ENSG00000180884 OTTHUMG00000150339 uc002nxh.1 AK095770 NM_175872 CCDS12440 Q3KQV3 8889548 HGNC:24751 "ENST00000404801.2|NM_175872.5" HGNC:33115 ZNF793 zinc finger protein 793 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 Zinc fingers C2H2-type 28 2006-08-17 2023-01-20 390927 ENSG00000188227 OTTHUMG00000182003 uc010xts.3 AK131417 NM_001013659 CCDS46062 Q6ZN11 HGNC:33115 "ENST00000627814.3|NM_001013659.3" HGNC:51303 ZNF793-AS1 ZNF793 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Antisense RNAs 1987 2014-09-26 2014-09-26 101927720 ENSG00000266916 OTTHUMG00000181988 NR_110723 ZNF793-AS1 HGNC:51303 -HGNC:28071 ZNF799 zinc finger protein 799 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HIT-40|MGC71805" ZNF842 zinc finger protein 842 Zinc fingers C2H2-type 28 2006-08-21 2023-01-20 90576 ENSG00000196466 OTTHUMG00000156408 uc010dyt.4 BC009517 NM_001080821 "CCDS82297|CCDS45989" Q96GE5 MGI:2443934 RGD:1359692 619916 HGNC:28071 "ENST00000430385.3|NM_001080821.3" HGNC:28071 +HGNC:28071 ZNF799 zinc finger protein 799 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HIT-40|MGC71805" ZNF842 zinc finger protein 842 Zinc fingers C2H2-type 28 2006-08-21 2023-01-20 90576 ENSG00000196466 OTTHUMG00000156408 uc010dyt.4 BC009517 NM_001080821 "CCDS45989|CCDS82297" Q96GE5 MGI:2443934 RGD:1359692 619916 HGNC:28071 "ENST00000430385.3|NM_001080821.3" HGNC:28071 HGNC:27267 ZNF800 zinc finger protein 800 protein-coding gene gene with protein product Approved 7q31.33 07q31.33 Zinc fingers C2H2-type 28 2006-08-21 2023-01-20 168850 ENSG00000048405 OTTHUMG00000023456 uc064hro.1 AF218032 NM_176814 CCDS5795 Q2TB10 12477932 MGI:1889334 RGD:1560157 HGNC:27267 "ENST00000265827.8|NM_176814.5" HGNC:21711 ZNF804A zinc finger protein 804A protein-coding gene gene with protein product Approved 2q32.1 02q32.1 C2orf10 Zinc fingers C2H2-type 28 2004-11-30 2006-10-27 2006-10-27 2023-01-20 91752 ENSG00000170396 OTTHUMG00000132625 uc002uph.4 AF052145 NM_194250 CCDS2291 Q7Z570 12970790 MGI:2442949 RGD:1305239 612282 HGNC:21711 "ENST00000302277.7|NM_194250.2" HGNC:21711 HGNC:21958 ZNF804B zinc finger protein 804B protein-coding gene gene with protein product Approved 7q21.13 07q21.13 FLJ32110 zinc finger 804B Zinc fingers C2H2-type 28 2006-10-27 2006-12-18 2023-01-20 219578 ENSG00000182348 OTTHUMG00000131037 uc011khi.3 AK056672 NM_181646 CCDS5613 A4D1E1 MGI:2685287 RGD:1589640 HGNC:21958 "ENST00000333190.5|NM_181646.5" HGNC:23272 ZNF805 zinc finger protein 805 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2006-12-15 2023-01-20 390980 ENSG00000204524 OTTHUMG00000183219 uc010ygt.3 AF024708 NM_001023563 "CCDS46207|CCDS46208" Q5CZA5 HGNC:23272 "ENST00000414468.3|NM_001023563.4" HGNC:33229 ZNF807P zinc finger protein 807, pseudogene pseudogene pseudogene Approved 19q13.11 19q13.11 ZNF181P1 ZNF807 zinc finger protein 807 Zinc fingers C2H2-type 28 2006-12-21 2019-06-28 2019-06-28 2021-04-27 100129800 ENSG00000248830 OTTHUMG00000158178 NR_146880 HGNC:33229 -HGNC:33230 ZNF808 zinc finger protein 808 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 Zinc fingers C2H2-type 28 2006-12-21 2023-01-20 388558 ENSG00000198482 OTTHUMG00000158230 uc010epq.2 CR749856 NM_001039886 "CCDS86799|CCDS46167" Q8N4W9 HGNC:33230 "ENST00000359798.9|NM_001039886.4" +HGNC:33230 ZNF808 zinc finger protein 808 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 Zinc fingers C2H2-type 28 2006-12-21 2023-01-20 388558 ENSG00000198482 OTTHUMG00000158230 uc010epq.2 CR749856 NM_001039886 "CCDS46167|CCDS86799" Q8N4W9 HGNC:33230 "ENST00000359798.9|NM_001039886.4" HGNC:33242 ZNF812P zinc finger protein 812, pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 ZNF812 zinc finger protein 812 Zinc fingers C2H2-type 28 2007-01-05 2015-11-03 2015-11-03 2023-03-15 729648 ENSG00000224689 OTTHUMG00000167867 uc060tbh.1 NR_146444 HGNC:33242 HGNC:33257 ZNF813 zinc finger protein 813 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 FLJ16542 Zinc fingers C2H2-type 28 2007-01-18 2023-01-20 126017 ENSG00000198346 OTTHUMG00000158309 uc002qbu.3 AK091460 NM_001004301 CCDS46172 Q6ZN06 "MGI:107768|MGI:1925501|MGI:3040674" HGNC:33257 "ENST00000396403.9|NM_001004301.4" HGNC:33258 ZNF814 zinc finger protein 814 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2007-01-18 2023-01-20 730051 ENSG00000204514 OTTHUMG00000183519 uc061dny.1 NM_001144989 CCDS46212 B7Z6K7 HGNC:33258 "ENST00000435989.7|NM_001144989.2" @@ -43546,10 +43548,10 @@ HGNC:22029 ZNF815P zinc finger protein 815, pseudogene pseudogene pseudogene App HGNC:26995 ZNF816 zinc finger protein 816 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 ZNF816A zinc finger protein 816A Zinc fingers C2H2-type 28 2007-01-18 2010-07-23 2010-07-23 2023-01-20 125893 ENSG00000180257 OTTHUMG00000167761 uc002qal.3 BC063805 NM_001031665 CCDS33096 Q0VGE8 RGD:1597345 HGNC:26995 "ENST00000444460.7|NM_001202457.3" HGNC:38879 ZNF816-ZNF321P ZNF816-ZNF321P readthrough other readthrough Approved 19q13.41 19q13.41 ZNF816-ZNF321 ZNF816-ZNF321 readthrough 2010-09-15 2011-04-19 2011-04-19 2023-03-15 100529240 ENSG00000221874 OTTHUMG00000167759 uc010eqj.4 AK316503 NM_001202473 HGNC:38879 HGNC:33265 ZNF818P zinc finger protein 818, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 FLJ46385 ZNF818 "zinc finger protein 818|zinc finger protein 818 pseudogene|zinc finger protein 818 (pseudogene)" 2007-01-19 2008-07-03 2010-08-03 2021-06-30 390963 ENSG00000269001 AK128250 XR_040819 Q6ZRF7 PGOHUM00000295440 HGNC:33265 -HGNC:28043 ZNF821 zinc finger protein 821 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 Zinc fingers C2H2-type 28 2007-11-20 2023-01-20 55565 ENSG00000102984 OTTHUMG00000176874 uc021tlb.1 AF070588 NM_017530 "CCDS32481|CCDS73911|CCDS56006" O75541 "8619474|9110174" MGI:1923121 RGD:1306674 HGNC:28043 "ENST00000425432.6|NM_001201552.2" +HGNC:28043 ZNF821 zinc finger protein 821 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 Zinc fingers C2H2-type 28 2007-11-20 2023-01-20 55565 ENSG00000102984 OTTHUMG00000176874 uc021tlb.1 AF070588 NM_017530 "CCDS73911|CCDS32481|CCDS56006" O75541 "8619474|9110174" MGI:1923121 RGD:1306674 HGNC:28043 "ENST00000425432.6|NM_001201552.2" HGNC:30936 ZNF823 zinc finger protein 823 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 HSZFP36 ZFP 36 for a zinc finger protein Zinc fingers C2H2-type 28 2008-01-18 2023-01-20 55552 ENSG00000197933 OTTHUMG00000156528 uc002msm.3 X51760 NM_001080493 CCDS45981 P16415 MGI:3642748 HGNC:30936 "ENST00000341191.11|NM_001080493.4" HGNC:33875 ZNF826P zinc finger protein 826, pseudogene pseudogene pseudogene Approved 19p12 19p12 FLJ44894 ZNF826 zinc finger protein 826 2008-02-01 2010-08-03 2010-08-03 2023-03-15 664701 ENSG00000231205 OTTHUMG00000162773 BC016785 NR_036455 Q6ZT77 HGNC:33875 -HGNC:27193 ZNF827 zinc finger protein 827 protein-coding gene gene with protein product Approved 4q31.21-q31.22 04q31.21-q31.22 Zinc fingers C2H2-type 28 2008-03-25 2023-01-20 152485 ENSG00000151612 OTTHUMG00000161362 uc003ikm.4 AK091130 NM_178835 "CCDS77968|CCDS34072|CCDS93645" Q17R98 25150861 MGI:2444807 RGD:1560620 617962 HGNC:27193 "ENST00000508784.6|NM_001306215.2" +HGNC:27193 ZNF827 zinc finger protein 827 protein-coding gene gene with protein product Approved 4q31.21-q31.22 04q31.21-q31.22 Zinc fingers C2H2-type 28 2008-03-25 2023-01-20 152485 ENSG00000151612 OTTHUMG00000161362 uc003ikm.4 AK091130 NM_178835 "CCDS93645|CCDS34072|CCDS77968" Q17R98 25150861 MGI:2444807 RGD:1560620 617962 HGNC:27193 "ENST00000508784.6|NM_001306215.2" HGNC:34032 ZNF829 zinc finger protein 829 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 DKFZp779O175 Zinc fingers C2H2-type 28 2008-03-25 2023-01-20 374899 ENSG00000185869 OTTHUMG00000048161 uc002ofa.3 BC107131 NM_001037232 "CCDS59380|CCDS42557" Q3KNS6 RGD:1624201 HGNC:34032 "ENST00000391711.8|NM_001037232.4" HGNC:28291 ZNF830 zinc finger protein 830 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC20398|OMCG1" orphan maintenance of genome 1 CCDC16 coiled-coil domain containing 16 "Zinc fingers matrin-type|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "84|1508|1510|1516" 2005-04-03 2008-03-25 2008-03-25 2023-01-20 91603 ENSG00000198783 OTTHUMG00000179771 uc002hih.5 AK055707 NM_052857 CCDS32618 Q96NB3 23066043 MGI:1914233 RGD:1562573 HGNC:28291 "ENST00000361952.5|NM_052857.4" HGNC:16167 ZNF831 zinc finger protein 831 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 dJ492J12.1 C20orf174 chromosome 20 open reading frame 174 Zinc fingers C2H2-type 28 2001-07-17 2008-03-25 2008-03-25 2023-01-20 128611 ENSG00000124203 OTTHUMG00000032864 uc002yan.4 AL121919 NM_178457 CCDS42894 Q5JPB2 MGI:3641861 RGD:1565819 HGNC:16167 "ENST00000371030.4|NM_178457.3" @@ -43568,7 +43570,7 @@ HGNC:27260 ZNF846 zinc finger protein 846 protein-coding gene gene with protein HGNC:34384 ZNF847P zinc finger protein 847, pseudogene pseudogene pseudogene Approved 1q42.13 01q42.13 gm127 "zinc finger protein 847 pseudogene|zinc finger protein 847 (pseudogene)" 2008-07-04 2010-08-03 2021-04-27 401983 ENSG00000215812 OTTHUMG00000037696 NR_036753 HGNC:34384 HGNC:34387 ZNF848P zinc finger protein 848, pseudogene pseudogene pseudogene Approved 17q24.1 17q24.1 "zinc finger protein 848 pseudogene|zinc finger protein 848 (pseudogene)" 2008-07-04 2010-08-03 2021-04-27 100380945 NG_013021 HGNC:34387 HGNC:34389 ZNF849P zinc finger protein 849, pseudogene pseudogene pseudogene Approved 19p12 19p12 "zinc finger protein 849 pseudogene|zinc finger protein 849 (pseudogene)" 2008-07-04 2010-08-03 2021-04-27 100130108 ENSG00000198153 OTTHUMG00000182989 XM_001719785 PGOHUM00000295302 HGNC:34389 -HGNC:27994 ZNF850 zinc finger protein 850 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ZNF850P "zinc finger protein 850 pseudogene|zinc finger protein 850 (pseudogene)" Zinc fingers C2H2-type 28 2008-07-04 2010-08-02 2010-08-02 2023-01-20 342892 ENSG00000267041 OTTHUMG00000180899 uc010efc.4 BC052603 NM_001193552 "CCDS59379|CCDS74350" A8MQ14 12477932 MGI:1917477 RGD:7710512 HGNC:27994 "ENST00000591344.2|NM_001193552.2" +HGNC:27994 ZNF850 zinc finger protein 850 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ZNF850P "zinc finger protein 850 pseudogene|zinc finger protein 850 (pseudogene)" Zinc fingers C2H2-type 28 2008-07-04 2010-08-02 2010-08-02 2023-01-20 342892 ENSG00000267041 OTTHUMG00000180899 uc010efc.4 BC052603 NM_001193552 "CCDS74350|CCDS59379" A8MQ14 12477932 MGI:1917477 RGD:7710512 HGNC:27994 "ENST00000591344.2|NM_001193552.2" HGNC:27713 ZNF852 zinc finger protein 852 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Zinc fingers C2H2-type 28 2008-07-04 2021-04-27 285346 ENSG00000178917 OTTHUMG00000156453 uc062iuy.1 BC014381 NM_001287349 Q6ZMS4 MGI:3040678 HGNC:27713 HGNC:21767 ZNF853 zinc finger protein 853 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 DKFZp434J1015 Zinc fingers C2H2-type 28 2008-07-04 2023-01-20 54753 ENSG00000236609 OTTHUMG00000151853 uc011jwz.3 AL133055 NM_017560 CCDS59048 P0CG23 MGI:2685638 RGD:1563095 HGNC:21767 "ENST00000457543.4|NM_017560.3" HGNC:34507 ZNF859P zinc finger protein 859, pseudogene pseudogene pseudogene Approved 1p33 01p33 "zinc finger protein 859 pseudogene|zinc finger protein 859 (pseudogene)" 2008-08-06 2010-08-03 2021-04-27 100507490 ENSG00000215887 OTTHUMG00000008273 NG_028931 PGOHUM00000256878 HGNC:34507 @@ -43577,7 +43579,7 @@ HGNC:34514 ZNF861P zinc finger protein 861, pseudogene pseudogene pseudogene App HGNC:34519 ZNF862 zinc finger protein 862 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 Zinc fingers 26 2008-08-15 2023-01-20 643641 ENSG00000106479 OTTHUMG00000158093 uc010lpn.4 AB011115 NM_001099220 CCDS47741 O60290 RGD:1598054 HGNC:34519 "ENST00000223210.5|NM_001099220.3" HGNC:35156 ZNF863P zinc finger protein 863, pseudogene pseudogene pseudogene Approved 2p16.3 02p16.3 2008-09-26 2010-08-03 2021-04-27 100419682 ENSG00000236538 OTTHUMG00000151841 NG_023689 HGNC:35156 HGNC:38705 ZNF865 zinc finger protein 865 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Zinc fingers C2H2-type 28 2010-07-29 2023-02-07 100507290 ENSG00000261221 OTTHUMG00000177108 uc061dbu.1 NM_001195605 CCDS58681 P0CJ78 MGI:2442656 RGD:6494165 HGNC:38705 "ENST00000568956.2|NM_001195605.2" -HGNC:4928 ZNF875 zinc finger protein 875 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 oncogene HKR1 HKR1 "GLI-Kruppel family member HKR1|HKR1, GLI-Kruppel zinc finger family member" Zinc fingers C2H2-type 28 1989-05-29 2019-01-22 2019-01-22 2023-01-20 284459 ENSG00000181666 OTTHUMG00000181937 uc060xtq.1 M20675 NM_181786 "CCDS12502|CCDS82338|CCDS82337|CCDS82339|CCDS86758" P10072 "2850480|9813242" 165250 HGNC:4928 "ENST00000392153.8|NM_001353803.2" +HGNC:4928 ZNF875 zinc finger protein 875 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 oncogene HKR1 HKR1 "GLI-Kruppel family member HKR1|HKR1, GLI-Kruppel zinc finger family member" Zinc fingers C2H2-type 28 1989-05-29 2019-01-22 2019-01-22 2023-01-20 284459 ENSG00000181666 OTTHUMG00000181937 uc060xtq.1 M20675 NM_181786 "CCDS82337|CCDS82338|CCDS82339|CCDS86758|CCDS12502" P10072 "2850480|9813242" 165250 HGNC:4928 "ENST00000392153.8|NM_001353803.2" HGNC:32472 ZNF876P zinc finger protein 876, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 2008-06-12 2009-07-22 2010-08-03 2021-04-27 642280 ENSG00000198155 OTTHUMG00000159874 BC028359 NR_027481 Q49A33 PGOHUM00000250744 HGNC:32472 HGNC:38697 ZNF877P zinc finger protein 877, pseudogene pseudogene pseudogene Approved 20p11.23 20p11.23 2010-07-29 2021-04-27 100873811 ENSG00000226875 OTTHUMG00000032019 NG_032730 PGOHUM00000247609 HGNC:38697 HGNC:37246 ZNF878 zinc finger protein 878 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zinc fingers C2H2-type 28 2009-09-23 2023-01-20 729747 ENSG00000257446 OTTHUMG00000169370 uc021upl.2 NM_001080404 CCDS45984 C9JN71 "MGI:2443934|MGI:2684459" RGD:7600751 HGNC:37246 "ENST00000547628.2|NM_001080404.3" @@ -43600,17 +43602,17 @@ HGNC:44211 ZNF969P zinc finger protein 969, pseudogene pseudogene pseudogene App HGNC:44511 ZNF970P zinc finger protein 970, pseudogene pseudogene pseudogene Approved 12q11 12q11 2015-05-20 2021-04-27 105369729 ENSG00000258368 OTTHUMG00000169295 NG_042161 PGOHUM00000291622 HGNC:44511 HGNC:51848 ZNF971P zinc finger protein 971, pseudogene pseudogene pseudogene Approved 16p11.1 16p11.1 2015-08-26 2015-08-26 2021-04-27 100419895 ENSG00000214581 OTTHUMG00000176003 NG_026366 PGOHUM00000293581 HGNC:51848 HGNC:29271 ZNFX1 zinc finger NFX1-type containing 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "KIAA1404|FLJ11277" zinc finger, NFX1-type containing 1 UPF1 like RNA helicases 1169 2006-02-17 2016-04-12 2023-01-20 57169 ENSG00000124201 OTTHUMG00000032696 uc002xui.5 AK022641 NM_021035 CCDS13417 Q9P2E3 10718198 MGI:2138982 RGD:1306344 618931 HGNC:29271 "ENST00000396105.6|NM_021035.3" -HGNC:17134 ZNG1A Zn regulated GTPase metalloprotein activator 1A protein-coding gene gene with protein product Approved 9p24.3 09p24.3 CBWD1 COBW domain containing 1 2001-11-26 2022-05-17 2022-05-17 2023-01-20 55871 ENSG00000172785 OTTHUMG00000019425 uc064rtg.1 AY343911 NM_018491 "CCDS94370|CCDS6438|CCDS47948|CCDS94369|CCDS47947" Q9BRT8 "15233989|12421752|35584702" MGI:2385089 RGD:708495 611078 HGNC:17134 "ENST00000356521.9|NM_018491.5" +HGNC:17134 ZNG1A Zn regulated GTPase metalloprotein activator 1A protein-coding gene gene with protein product Approved 9p24.3 09p24.3 CBWD1 COBW domain containing 1 2001-11-26 2022-05-17 2022-05-17 2023-01-20 55871 ENSG00000172785 OTTHUMG00000019425 uc064rtg.1 AY343911 NM_018491 "CCDS6438|CCDS94370|CCDS94369|CCDS47948|CCDS47947" Q9BRT8 "15233989|12421752|35584702" MGI:2385089 RGD:708495 611078 HGNC:17134 "ENST00000356521.9|NM_018491.5" HGNC:17907 ZNG1B Zn regulated GTPase metalloprotein activator 1B protein-coding gene gene with protein product Approved 2q14.1 02q14.1 CBWD2 COBW domain containing 2 2002-01-08 2022-05-17 2022-05-17 2023-01-20 150472 ENSG00000136682 OTTHUMG00000131360 uc002tju.4 AF452722 NM_172003 "CCDS2116|CCDS82502" Q8IUF1 "12421752|15233989|35584702" MGI:2385089 611079 HGNC:17907 "ENST00000259199.9|NM_172003.3" HGNC:18519 ZNG1C Zn regulated GTPase metalloprotein activator 1C protein-coding gene gene with protein product Approved 9q21.11 09q21.11 bA561O23.1 CBWD3 COBW domain containing 3 2004-08-25 2022-05-17 2022-05-17 2023-01-20 445571 ENSG00000196873 OTTHUMG00000184383 uc004agi.6 BC069006 NM_201453 CCDS35038 Q5JTY5 "15233989|12421752|35584702" MGI:2385089 611080 HGNC:18519 "ENST00000360171.11|NM_201453.4" HGNC:18520 ZNG1DP Zn regulated GTPase metalloprotein activator 1D, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 CBWD4P COBW domain containing 4, pseudogene 2004-08-25 2022-05-17 2022-05-17 2022-05-19 653510 ENSG00000204778 OTTHUMG00000013333 NG_027949 35584702 HGNC:18520 -HGNC:24584 ZNG1E Zn regulated GTPase metalloprotein activator 1E protein-coding gene gene with protein product Approved 9q21.11 09q21.11 dopamine responsive protein CBWD5 COBW domain containing 5 2005-08-23 2022-05-17 2022-05-17 2023-01-20 220869 ENSG00000147996 OTTHUMG00000013336 uc004aga.6 "BC067803|BC082271" NM_001024916 "CCDS83367|CCDS75841|CCDS75844|CCDS75843|CCDS87654|CCDS94413" Q5RIA9 35584702 MGI:2385089 HGNC:24584 "ENST00000382405.8|NM_001330668.2" +HGNC:24584 ZNG1E Zn regulated GTPase metalloprotein activator 1E protein-coding gene gene with protein product Approved 9q21.11 09q21.11 dopamine responsive protein CBWD5 COBW domain containing 5 2005-08-23 2022-05-17 2022-05-17 2023-01-20 220869 ENSG00000147996 OTTHUMG00000013336 uc004aga.6 "BC067803|BC082271" NM_001024916 "CCDS75844|CCDS75841|CCDS75843|CCDS94413|CCDS83367|CCDS87654" Q5RIA9 35584702 MGI:2385089 HGNC:24584 "ENST00000382405.8|NM_001330668.2" HGNC:31978 ZNG1F Zn regulated GTPase metalloprotein activator 1F protein-coding gene gene with protein product Approved 9p11.2 09p11.2 "OTTHUMG00000066820|OTTHUMG00000067194" "CBWD7|CBWD6" "COBW domain containing 7|COBW domain containing 6" 2006-06-30 2022-05-17 2022-05-17 2023-01-20 644019 ENSG00000215126 OTTHUMG00000067194 NM_001085457 CCDS43827 Q4V339 35584702 MGI:2385089 HGNC:31978 "ENST00000377391.8|NM_001085457.2" HGNC:21688 ZNHIT1 zinc finger HIT-type containing 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CG1I|H_DJ0747G18.14" putative cyclin G1 interacting protein ZNFN4A1 "zinc finger protein, subfamily 4A (HIT domain containing), member 1|zinc finger, HIT domain containing 1" "Zinc fingers HIT-type|SRCAP complex" "83|1329" 2003-07-14 2003-08-08 2016-02-12 2023-01-20 10467 ENSG00000106400 OTTHUMG00000157113 uc003uye.4 AF093571 NM_006349 CCDS5716 O43257 MGI:1917353 RGD:2322870 618617 HGNC:21688 "ENST00000305105.3|NM_006349.3" HGNC:44474 ZNHIT1P1 zinc finger HIT-type containing 1 pseudogene 1 pseudogene pseudogene Approved 8q24.3 08q24.3 2012-11-02 2016-02-12 2016-02-12 100288248 ENSG00000253421 OTTHUMG00000164657 NG_030258 PGOHUM00000249811 HGNC:44474 HGNC:1177 ZNHIT2 zinc finger HIT-type containing 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FON C11orf5 "chromosome 11 open reading frame 5|zinc finger, HIT domain containing 2" Zinc fingers HIT-type 83 1998-08-06 2004-07-14 2016-02-12 2023-01-20 741 ENSG00000174276 OTTHUMG00000165604 uc001ocw.4 NM_014205 CCDS8094 Q9UHR6 MGI:1352481 RGD:1307918 604575 HGNC:1177 "ENST00000310597.6|NM_014205.4" -HGNC:12309 ZNHIT3 zinc finger HIT-type containing 3 protein-coding gene gene with protein product Approved 17q12 17q12 Hit1 TRIP3 "thyroid hormone receptor interactor 3|zinc finger, HIT type 3" Zinc fingers HIT-type 83 1999-03-19 2005-09-08 2016-02-12 2023-01-20 9326 ENSG00000273611 OTTHUMG00000188436 uc002hms.3 L40410 NM_004773 "CCDS11312|CCDS62156" Q15649 7776974 MGI:3051596 RGD:1598226 604500 HGNC:12309 "ENST00000617429.5|NM_004773.4" HGNC:12309 -HGNC:26089 ZNHIT6 zinc finger HIT-type containing 6 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "FLJ20729|NY-BR-75|BCD1" box C/D snoRNA essential 1 homolog (S. cerevisiae) C1orf181 "chromosome 1 open reading frame 181|zinc finger, HIT type 6" Zinc fingers HIT-type 83 2005-07-28 2008-06-23 2016-02-12 2023-01-20 54680 ENSG00000117174 OTTHUMG00000010576 uc001dlh.4 AL442074 NM_017953 "CCDS53338|CCDS707" Q9NWK9 12747765 MGI:1916996 RGD:1308723 HGNC:26089 "ENST00000370574.4|NM_017953.4" +HGNC:12309 ZNHIT3 zinc finger HIT-type containing 3 protein-coding gene gene with protein product Approved 17q12 17q12 Hit1 TRIP3 "thyroid hormone receptor interactor 3|zinc finger, HIT type 3" Zinc fingers HIT-type 83 1999-03-19 2005-09-08 2016-02-12 2023-01-20 9326 ENSG00000273611 OTTHUMG00000188436 uc002hms.3 L40410 NM_004773 "CCDS62156|CCDS11312" Q15649 7776974 MGI:3051596 RGD:1598226 604500 HGNC:12309 "ENST00000617429.5|NM_004773.4" HGNC:12309 +HGNC:26089 ZNHIT6 zinc finger HIT-type containing 6 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "FLJ20729|NY-BR-75|BCD1" box C/D snoRNA essential 1 homolog (S. cerevisiae) C1orf181 "chromosome 1 open reading frame 181|zinc finger, HIT type 6" Zinc fingers HIT-type 83 2005-07-28 2008-06-23 2016-02-12 2023-01-20 54680 ENSG00000117174 OTTHUMG00000010576 uc001dlh.4 AL442074 NM_017953 "CCDS707|CCDS53338" Q9NWK9 12747765 MGI:1916996 RGD:1308723 HGNC:26089 "ENST00000370574.4|NM_017953.4" HGNC:54438 ZNNT1 ZNF706 neighboring transcript 1 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 AP003469.4 Long non-coding RNAs with non-systematic symbols 1992 2019-09-04 2022-09-15 115830329 ENSG00000261087 NR_164368 31462126 HGNC:11328 ZNRD2 zinc ribbon domain containing 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 p27 SSSCA1 "Sjogren's syndrome/scleroderma autoantigen 1|Sjogren syndrome/scleroderma autoantigen 1" 1999-12-15 2019-03-21 2019-03-21 2023-01-20 10534 ENSG00000173465 OTTHUMG00000166388 uc001oek.4 AB001740 NM_006396 "CCDS76434|CCDS8104" O60232 9486406 MGI:1913482 RGD:1593467 606044 HGNC:11328 "ENST00000309328.8|NM_006396.3" HGNC:27384 ZNRD2-DT ZNRD2 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 "SSSCA1-AS1|ZNRD2-AS1" "SSSCA1 antisense RNA 1 (head to head)|ZNRD2 antisense RNA 1 (head to head)" Divergent transcripts 1990 2013-05-31 2020-12-21 2020-12-21 2020-12-21 254100 ENSG00000260233 OTTHUMG00000166387 NR_038923 SSSCA1-AS1 HGNC:27384 @@ -43619,20 +43621,20 @@ HGNC:22316 ZNRF2 zinc and ring finger 2 protein-coding gene gene with protein pr HGNC:42792 ZNRF2P1 zinc and ring finger 2 pseudogene 1 pseudogene pseudogene Approved 7p14.3 07p14.3 2011-08-18 2014-11-18 441208 ENSG00000237004 OTTHUMG00000152982 NR_003502 HGNC:42792 HGNC:42793 ZNRF2P2 zinc and ring finger 2 pseudogene 2 pseudogene pseudogene Approved 7p14.3 07p14.3 2011-08-22 2015-02-02 100271874 ENSG00000225264 OTTHUMG00000152750 NR_027347 PGOHUM00000232633 HGNC:42793 HGNC:45113 ZNRF2P3 zinc and ring finger 2 pseudogene 3 pseudogene pseudogene Approved 10q22.3 10q22.3 2013-02-15 2013-02-15 100130879 ENSG00000235924 OTTHUMG00000018593 NG_011590 HGNC:45113 -HGNC:18126 ZNRF3 zinc and ring finger 3 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "KIAA1133|BK747E2.3|FLJ22057|RNF203" Ring finger proteins 58 2004-07-29 2023-01-20 84133 ENSG00000183579 OTTHUMG00000151009 uc021wnq.2 AB051436 NM_001206998 "CCDS42999|CCDS56225" Q9ULT6 10574461 MGI:3039616 RGD:1593771 612062 6.3.2.- HGNC:18126 "ENST00000544604.7|NM_001206998.2" +HGNC:18126 ZNRF3 zinc and ring finger 3 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "KIAA1133|BK747E2.3|FLJ22057|RNF203" Ring finger proteins 58 2004-07-29 2023-01-20 84133 ENSG00000183579 OTTHUMG00000151009 uc021wnq.2 AB051436 NM_001206998 "CCDS56225|CCDS42999" Q9ULT6 10574461 MGI:3039616 RGD:1593771 612062 6.3.2.- HGNC:18126 "ENST00000544604.7|NM_001206998.2" HGNC:41927 ZNRF3-AS1 ZNRF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 ZNRF3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2016-11-24 100874123 ENSG00000177993 OTTHUMG00000153511 uc031rxk.1 NR_046851 ZNRF3-AS1 HGNC:41927 HGNC:41440 ZNRF3-IT1 ZNRF3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 ZNRF3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874339 ENSG00000235786 OTTHUMG00000151010 uc062cvv.1 ZNRF3-IT1 HGNC:17726 ZNRF4 zinc and ring finger 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "spzn|Ssrzf1|RNF204" "sperizin|nixin" Ring finger proteins 58 2004-07-29 2023-01-20 148066 ENSG00000105428 OTTHUMG00000180356 uc002mca.5 AK098722 NM_181710 CCDS42475 Q8WWF5 "10191088|21205830" MGI:1341258 RGD:1563631 612063 6.3.2.- HGNC:17726 "ENST00000222033.6|NM_181710.4" HGNC:13187 ZP1 zona pellucida glycoprotein 1 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 ZPB1 zona pellucida glycoprotein 1 (sperm receptor) Zona pellucida glycoproteins 8 1999-12-10 2015-11-20 2023-01-20 22917 ENSG00000149506 OTTHUMG00000167797 uc001nqd.4 BC067899 NM_207341 CCDS31572 P60852 10542331 MGI:103073 RGD:620604 195000 406889 HGNC:13187 "ENST00000278853.10|NM_207341.4" HGNC:13187 HGNC:13188 ZP2 zona pellucida glycoprotein 2 protein-coding gene gene with protein product Approved 16p12.3-p12.2 16p12.3-p12.2 ZPA zona pellucida 2 zona pellucida glycoprotein 2 (sperm receptor) Zona pellucida glycoproteins 8 1997-07-01 2016-03-29 2023-03-15 7783 ENSG00000103310 OTTHUMG00000090681 uc002dii.3 M90366 NM_001376231 CCDS10596 Q05996 8385033 MGI:99214 RGD:620605 182888 HGNC:13188 "ENST00000574091.6|NM_001376232.1" HGNC:13188 -HGNC:13189 ZP3 zona pellucida glycoprotein 3 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "ZP3-424|ZP3-372|ZPC" "ZP3A|ZP3B" zona pellucida glycoprotein 3A (sperm receptor) Zona pellucida glycoproteins 8 1991-07-31 2002-09-20 2016-07-28 2023-01-20 7784 ENSG00000188372 OTTHUMG00000130575 uc003ufc.5 M60504 NM_001110354 "CCDS47618|CCDS5586" P21754 1478648 MGI:99215 RGD:620606 182889 HGNC:13189 "ENST00000394857.8|NM_001110354.2" HGNC:13189 +HGNC:13189 ZP3 zona pellucida glycoprotein 3 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "ZP3-424|ZP3-372|ZPC" "ZP3A|ZP3B" zona pellucida glycoprotein 3A (sperm receptor) Zona pellucida glycoproteins 8 1991-07-31 2002-09-20 2016-07-28 2023-01-20 7784 ENSG00000188372 OTTHUMG00000130575 uc003ufc.5 M60504 NM_001110354 "CCDS5586|CCDS47618" P21754 1478648 MGI:99215 RGD:620606 182889 HGNC:13189 "ENST00000394857.8|NM_001110354.2" HGNC:13189 HGNC:50856 ZP3P1 ZP3 pseudogene 1 pseudogene pseudogene Approved 5q14.3 05q14.3 2019-08-28 2019-08-28 100421623 ENSG00000250013 OTTHUMG00000162623 NG_024608 PGOHUM00000235302 HGNC:50856 HGNC:50857 ZP3P2 ZP3 pseudogene 2 pseudogene pseudogene Approved 7q33 07q33 2019-08-28 2019-08-28 100421642 ENSG00000226066 OTTHUMG00000155635 NG_026628 PGOHUM00000233581 HGNC:50857 HGNC:15770 ZP4 zona pellucida glycoprotein 4 protein-coding gene gene with protein product Approved 1q43 01q43 "ZPB|ZPB2|ZP1B" Zona pellucida glycoproteins 8 2001-07-04 2023-01-20 57829 ENSG00000116996 OTTHUMG00000039586 uc001hym.3 U05781 NM_021186 CCDS1615 Q12836 7841460 RGD:628708 613514 HGNC:15770 "ENST00000366570.5|NM_021186.5" HGNC:15770 HGNC:51635 ZPAXP zona pellucida glycoprotein AX, pseudogene pseudogene pseudogene Approved 2p24.2 02p24.2 ZPX1P 2015-03-31 2021-11-22 105373450 NG_052644 "15570621|18046012" HGNC:51635 -HGNC:15662 ZPBP zona pellucida binding protein protein-coding gene gene with protein product Approved 7p12.2 07p12.2 "SP38|ZPBP1" Immunoglobulin like domain containing 594 2001-05-02 2023-01-20 11055 ENSG00000042813 OTTHUMG00000023528 uc003tou.4 D17570 NM_007009 "CCDS55110|CCDS5509" Q9BS86 9378618 MGI:1855701 RGD:1563985 608498 HGNC:15662 "ENST00000046087.7|NM_007009.3" +HGNC:15662 ZPBP zona pellucida binding protein protein-coding gene gene with protein product Approved 7p12.2 07p12.2 "SP38|ZPBP1" Immunoglobulin like domain containing 594 2001-05-02 2023-01-20 11055 ENSG00000042813 OTTHUMG00000023528 uc003tou.4 D17570 NM_007009 "CCDS5509|CCDS55110" Q9BS86 9378618 MGI:1855701 RGD:1563985 608498 HGNC:15662 "ENST00000046087.7|NM_007009.3" HGNC:20678 ZPBP2 zona pellucida binding protein 2 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "ZPBPL|MGC41930" Immunoglobulin like domain containing 594 2004-04-30 2023-01-20 124626 ENSG00000186075 OTTHUMG00000133022 uc002hte.4 BC043152 NM_198844 "CCDS11352|CCDS11353" Q6X784 12883658 MGI:1916626 RGD:1549726 608499 HGNC:20678 "ENST00000348931.9|NM_199321.3" -HGNC:27022 ZPLD1 zona pellucida like domain containing 1 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 2006-01-06 2016-07-05 2023-01-20 131368 ENSG00000170044 OTTHUMG00000159229 uc003dvs.2 AY090780 NM_175056 "CCDS87115|CCDS2947" Q8TCW7 18632209 MGI:2443415 RGD:1308138 615915 HGNC:27022 "ENST00000466937.2|NM_001329788.2" +HGNC:27022 ZPLD1 zona pellucida like domain containing 1 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 2006-01-06 2016-07-05 2023-01-20 131368 ENSG00000170044 OTTHUMG00000159229 uc003dvs.2 AY090780 NM_175056 "CCDS2947|CCDS87115" Q8TCW7 18632209 MGI:2443415 RGD:1308138 615915 HGNC:27022 "ENST00000466937.2|NM_001329788.2" HGNC:54510 ZPLD2P zona pellucida like domain containing 2, pseudogene pseudogene pseudogene Approved 1p36.11 01p36.11 2019-09-06 2019-09-06 101928303 ENSG00000236155 OTTHUMG00000003384 NR_110698 MGI:3702974 HGNC:54510 HGNC:13051 ZPR1 ZPR1 zinc finger protein-coding gene gene with protein product Approved 11q23.3 11q23.3 ZNF259 zinc finger protein 259 Zinc fingers 26 1999-02-15 2014-02-20 2014-02-20 2023-01-20 8882 ENSG00000109917 OTTHUMG00000046114 AF019767 NM_003904 CCDS8375 O75312 "8650580|9763455|22422766" MGI:1330262 RGD:1562173 603901 HGNC:13051 "ENST00000227322.8|NM_003904.5" HGNC:13052 ZPR1P1 ZPR1 pseudogene 1 pseudogene pseudogene Approved 6q21 06q21 354J5 "ZNF259P|ZNF259P1" "zinc finger protein 259, pseudogene|zinc finger protein 259 pseudogene 1" 1999-02-15 2021-03-24 2021-03-24 2021-03-24 442240 ENSG00000219565 OTTHUMG00000016136 Z95118 NG_009460 PGOHUM00000243320 HGNC:13052 @@ -43640,11 +43642,11 @@ HGNC:18224 ZRANB1 zinc finger RANBP2-type containing 1 protein-coding gene gene HGNC:13058 ZRANB2 zinc finger RANBP2-type containing 2 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "ZIS|ZIS1|ZIS2" ZNF265 "zinc finger protein 265|zinc finger, RAN-binding domain containing 2" "Zinc fingers RANBP2-type |MicroRNA protein coding host genes" "89|1691" 1999-07-19 2006-06-28 2016-02-12 2023-01-20 9406 ENSG00000132485 OTTHUMG00000009660 uc001dft.4 AF065391 NM_203350 "CCDS660|CCDS659" O95218 9931435 MGI:1858211 RGD:61854 604347 HGNC:13058 "ENST00000370920.8|NM_203350.3" HGNC:43594 ZRANB2-AS1 ZRANB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 ZRANB2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-22 2012-08-15 2012-10-12 100132618 ENSG00000235079 OTTHUMG00000009659 uc057hmu.1 BC070115 NR_038420 ZRANB2-AS1 HGNC:43594 HGNC:43595 ZRANB2-DT ZRANB2 divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 ZRANB2-AS2 "ZRANB2 antisense RNA 2 (non-protein coding)|ZRANB2 antisense RNA 2|ZRANB2 antisense RNA 2 (head to head)" Divergent transcripts 1990 2011-11-22 2021-07-28 2021-07-28 2021-07-28 100852410 ENSG00000229956 OTTHUMG00000009733 uc057hnc.1 BC054887 NR_046217 ZRANB2-AS2 HGNC:43595 -HGNC:25249 ZRANB3 zinc finger RANBP2-type containing 3 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "DKFZP434B1727|AH2" annealing helicase 2 zinc finger, RAN-binding domain containing 3 Zinc fingers RANBP2-type 89 2004-07-14 2016-02-12 2023-01-20 84083 ENSG00000121988 OTTHUMG00000150475 uc002tum.5 AL136824 NM_032143 "CCDS46419|CCDS74580|CCDS67963" Q5FWF4 11230166 MGI:1918362 RGD:1564952 615655 HGNC:25249 "ENST00000264159.11|NM_032143.4" +HGNC:25249 ZRANB3 zinc finger RANBP2-type containing 3 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "DKFZP434B1727|AH2" annealing helicase 2 zinc finger, RAN-binding domain containing 3 Zinc fingers RANBP2-type 89 2004-07-14 2016-02-12 2023-01-20 84083 ENSG00000121988 OTTHUMG00000150475 uc002tum.5 AL136824 NM_032143 "CCDS67963|CCDS46419|CCDS74580" Q5FWF4 11230166 MGI:1918362 RGD:1564952 615655 HGNC:25249 "ENST00000264159.11|NM_032143.4" HGNC:23019 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "U2AF1-RS2|URP|ZC3H22" U2AF1L2 "U2(RNU2) small nuclear RNA auxiliary factor 1-like 2|U2 small nuclear RNA auxiliary factor 1-like 2" "Zinc fingers CCCH-type|RNA binding motif containing|U11/U12 di-snRNP" "73|725|1521" 2003-09-24 2006-09-26 2016-02-10 2023-01-20 8233 ENSG00000169249 OTTHUMG00000021184 uc004cxg.5 BC050451 NM_005089 CCDS14172 Q15696 "8586425|9237760|15146077" MGI:103287 RGD:1559763 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZRSR2|LRG_618|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_618.xml" ZRSR2 300028 471374 HGNC:23019 "ENST00000307771.8|NM_005089.4" HGNC:12456 ZRSR2P1 ZRSR2 pseudogene 1 pseudogene pseudogene Approved 5q22.2 05q22.2 "U2AF1-RS1|U2AF1RS1|ZC3H21" U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1 "U2AFBPL|U2AF1P|U2AF1L1|ZRSR1" "U2(RNU2) small nuclear RNA auxiliary factor binding protein-like|U2 small nuclear RNA auxillary factor 1-like 1|zinc finger CCCH-type, RNA binding motif and serine/arginine rich 1" RNA binding motif containing 725 1994-07-13 2017-11-30 2017-11-30 2023-03-15 7310 ENSG00000212643 OTTHUMG00000163143 uc021ycm.2 D49676 NG_005419 Q15695 7956352 "MGI:98885|MGI:103287" 601079 HGNC:12456 HGNC:23712 ZSCAN1 zinc finger and SCAN domain containing 1 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "FLJ33779|ZNF915" zinc finger with SCAN domain 1 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2004-03-29 2004-04-21 2023-01-20 284312 ENSG00000152467 OTTHUMG00000183381 uc002qrc.1 AK091098 NM_182572 CCDS12969 Q8NBB4 12477932 620026 HGNC:23712 "ENST00000282326.6|NM_182572.4" -HGNC:20994 ZSCAN2 zinc finger and SCAN domain containing 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ20595|ZNF854" ZFP29 zinc finger protein 29 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-04-30 2004-11-02 2004-11-01 2023-01-20 54993 ENSG00000176371 OTTHUMG00000074027 uc059mrt.1 BC041620 NM_017894 "CCDS10329|CCDS32316|CCDS32315" Q7Z7L9 1937051 MGI:99176 RGD:1584548 HGNC:20994 "ENST00000546148.6|NM_181877.4" +HGNC:20994 ZSCAN2 zinc finger and SCAN domain containing 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ20595|ZNF854" ZFP29 zinc finger protein 29 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-04-30 2004-11-02 2004-11-01 2023-01-20 54993 ENSG00000176371 OTTHUMG00000074027 uc059mrt.1 BC041620 NM_017894 "CCDS32315|CCDS32316|CCDS10329" Q7Z7L9 1937051 MGI:99176 RGD:1584548 HGNC:20994 "ENST00000546148.6|NM_181877.4" HGNC:56673 ZSCAN2-AS1 ZSCAN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.2 15q25.2 AC048382.5 Antisense RNAs 1987 2022-12-21 2022-12-21 128193291 ENSG00000275120 HGNC:23709 ZSCAN4 zinc finger and SCAN domain containing 4 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ35105 ZNF494 zinc finger protein 494 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2004-11-02 2004-11-01 2023-01-20 201516 ENSG00000180532 OTTHUMG00000183474 uc002qpu.3 AK092424 NM_152677 CCDS12958 Q8NAM6 24735877 "MGI:2685243|MGI:3643613|MGI:3645447|MGI:3645953|MGI:3645954|MGI:3708485|MGI:3708487|MGI:3708489" RGD:1563625 613419 HGNC:23709 "ENST00000318203.9|NM_152677.4" HGNC:23710 ZSCAN5A zinc finger and SCAN domain containing 5A protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC4161 "ZNF495|ZSCAN5" "zinc finger protein 495|zinc finger and SCAN domain containing 5" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2008-06-10 2008-06-10 2023-01-20 79149 ENSG00000131848 OTTHUMG00000181883 uc002qmr.4 AK098700 NM_024303 "CCDS82403|CCDS12941" Q9BUG6 27732952 MGI:2159640 HGNC:23710 "ENST00000683990.1|NM_001322064.3" @@ -43658,15 +43660,15 @@ HGNC:13172 ZSCAN12 zinc finger and SCAN domain containing 12 protein-coding gene HGNC:13850 ZSCAN12P1 zinc finger and SCAN domain containing 12 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "ZNF187p1|dJ313I6.7" "ZNF305P1|ZNF96P1|ZNF96L1|ZSCAN12L1" "zinc finger protein 305 pseudogene 1|zinc finger protein 96 pseudogene 1|zinc finger protein 96-like 1|zinc finger and SCAN domain containing 12-like 1" 2003-11-27 2010-04-14 2010-04-14 2021-04-27 221584 ENSG00000219891 OTTHUMG00000014502 BC040524 NR_024063 PGOHUM00000243540 HGNC:13850 HGNC:20813 ZSCAN16 zinc finger and SCAN domain containing 16 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "FLJ22191|dJ265C24.3" "ZNF392|ZNF435" "zinc finger protein 392|zinc finger protein 435" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-04-09 2007-02-20 2007-02-20 2023-01-20 80345 ENSG00000196812 OTTHUMG00000014509 uc003nkm.4 AK025844 NM_025231 CCDS4644 Q9H4T2 618544 HGNC:20813 "ENST00000340487.5|NM_025231.3" HGNC:48982 ZSCAN16-AS1 ZSCAN16 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Antisense RNAs 1987 2013-07-24 2021-07-21 100129195 ENSG00000269293 OTTHUMG00000184041 NR_103455 34097562 ZSCAN16-AS1 HGNC:48982 -HGNC:21037 ZSCAN18 zinc finger and SCAN domain containing 18 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ12895 ZNF447 zinc finger protein 447 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-06-02 2007-02-20 2007-02-20 2023-01-20 65982 ENSG00000121413 OTTHUMG00000183451 uc002qrh.3 "AY280799|AY279352" NM_023926 "CCDS46214|CCDS46215|CCDS12971" Q8TBC5 MGI:3643810 RGD:1560671 HGNC:21037 "ENST00000601144.6|NM_001145543.2" +HGNC:21037 ZSCAN18 zinc finger and SCAN domain containing 18 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ12895 ZNF447 zinc finger protein 447 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-06-02 2007-02-20 2007-02-20 2023-01-20 65982 ENSG00000121413 OTTHUMG00000183451 uc002qrh.3 "AY280799|AY279352" NM_023926 "CCDS12971|CCDS46215|CCDS46214" Q8TBC5 MGI:3643810 RGD:1560671 HGNC:21037 "ENST00000601144.6|NM_001145543.2" HGNC:13093 ZSCAN20 zinc finger and SCAN domain containing 20 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 KOX29 "ZNF360|ZNF31" "zinc finger protein 31 (KOX 29)|zinc finger protein 31" "Zinc fingers C2H2-type|SCAN domain containing|Myb/SANT domain containing" "28|42|532" 1990-06-13 2007-02-20 2007-02-20 2023-01-20 7579 ENSG00000121903 OTTHUMG00000004173 uc001bxj.5 X52360 NM_145238 CCDS41300 P17040 2288909 MGI:2679268 RGD:1562996 611315 HGNC:13093 "ENST00000684572.1|NM_001377376.1" -HGNC:13104 ZSCAN21 zinc finger and SCAN domain containing 21 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DKFZp434L134|NY-REN-21|Zipro1" ZNF38 "zinc finger protein 38 (KOX 25)|zinc finger protein 38" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-09-30 2006-10-06 2006-10-06 2023-01-20 7589 ENSG00000166529 OTTHUMG00000154583 uc003uso.5 AL136865 NM_145914 "CCDS5681|CCDS87526" Q9Y5A6 "2288909|2014798" MGI:99182 RGD:1309981 601261 HGNC:13104 "ENST00000292450.9|NM_145914.3" +HGNC:13104 ZSCAN21 zinc finger and SCAN domain containing 21 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DKFZp434L134|NY-REN-21|Zipro1" ZNF38 "zinc finger protein 38 (KOX 25)|zinc finger protein 38" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-09-30 2006-10-06 2006-10-06 2023-01-20 7589 ENSG00000166529 OTTHUMG00000154583 uc003uso.5 AL136865 NM_145914 "CCDS87526|CCDS5681" Q9Y5A6 "2288909|2014798" MGI:99182 RGD:1309981 601261 HGNC:13104 "ENST00000292450.9|NM_145914.3" HGNC:4929 ZSCAN22 zinc finger and SCAN domain containing 22 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 oncogene HKR2 "ZNF50|HKR2" "zinc finger protein 50|GLI-Kruppel family member HKR2" "Zinc fingers C2H2-type|SCAN domain containing|MicroRNA protein coding host genes" "28|42|1691" 1989-05-29 2006-09-20 2006-09-20 2023-01-20 342945 ENSG00000182318 OTTHUMG00000183463 uc002qsc.3 M20675 NM_181846 CCDS12975 P10073 "2850480|1505991" MGI:2443312 RGD:7606541 165260 HGNC:4929 "ENST00000329665.5|NM_181846.3" HGNC:21193 ZSCAN23 zinc finger and SCAN domain containing 23 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 dJ29K1.3.1 "ZNF453|ZNF390" "zinc finger protein 453|zinc finger protein 390" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-05-27 2007-02-20 2007-02-20 2023-01-20 222696 ENSG00000187987 OTTHUMG00000016346 uc003nli.5 AK092117 NM_001012455 CCDS47393 Q3MJ62 HGNC:21193 "ENST00000289788.5|NM_001012455.2" HGNC:21961 ZSCAN25 zinc finger and SCAN domain containing 25 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ32468 ZNF498 zinc finger protein 498 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2013-01-09 2013-01-09 2023-01-20 221785 ENSG00000197037 OTTHUMG00000074055 uc003url.1 AK057030 NM_145115 CCDS5671 Q6NSZ9 11179890 MGI:3647079 RGD:1308619 HGNC:21961 "ENST00000394152.7|NM_145115.3" -HGNC:12978 ZSCAN26 zinc finger and SCAN domain containing 26 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 SRE-ZBP ZNF187 zinc finger protein 187 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1996-12-12 2013-01-09 2013-01-09 2023-03-15 7741 ENSG00000197062 OTTHUMG00000014519 uc032wpm.2 Z11773 NM_007151 "CCDS75415|CCDS75414|CCDS78119" Q16670 1569959 MGI:3531417 RGD:727885 616474 HGNC:12978 "ENST00000421553.7|NM_001023560.4" +HGNC:12978 ZSCAN26 zinc finger and SCAN domain containing 26 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 SRE-ZBP ZNF187 zinc finger protein 187 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1996-12-12 2013-01-09 2013-01-09 2023-03-15 7741 ENSG00000197062 OTTHUMG00000014519 uc032wpm.2 Z11773 NM_007151 "CCDS75414|CCDS78119|CCDS75415" Q16670 1569959 MGI:3531417 RGD:727885 616474 HGNC:12978 "ENST00000421553.7|NM_001023560.4" HGNC:26673 ZSCAN29 zinc finger and SCAN domain containing 29 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "FLJ35867|Zfp690" ZNF690 zinc finger protein 690 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2005-05-10 2007-03-08 2007-03-08 2023-01-20 146050 ENSG00000140265 OTTHUMG00000130767 uc001zrk.2 AF525399 NM_152455 CCDS10095 Q8IWY8 12434312 MGI:2139317 RGD:1559150 HGNC:26673 "ENST00000684362.1|NM_001372080.1" -HGNC:33517 ZSCAN30 zinc finger and SCAN domain containing 30 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 ZNF917 ZNF397OS "zinc finger protein 397 opposite strand|ZNF397 opposite strand" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2007-07-10 2010-07-23 2010-07-23 2023-01-20 100101467 ENSG00000186814 OTTHUMG00000178569 uc002kyl.5 AY234408 NM_001112734 "CCDS42427|CCDS74207" Q86W11 12801647 MGI:2685600 RGD:1306095 HGNC:33517 "ENST00000333206.10|NM_001112734.4" +HGNC:33517 ZSCAN30 zinc finger and SCAN domain containing 30 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 ZNF917 ZNF397OS "zinc finger protein 397 opposite strand|ZNF397 opposite strand" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2007-07-10 2010-07-23 2010-07-23 2023-01-20 100101467 ENSG00000186814 OTTHUMG00000178569 uc002kyl.5 AY234408 NM_001112734 "CCDS74207|CCDS42427" Q86W11 12801647 MGI:2685600 RGD:1306095 HGNC:33517 "ENST00000333206.10|NM_001112734.4" HGNC:14097 ZSCAN31 zinc finger and SCAN domain containing 31 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZNF310P|ZNF323" "zinc finger protein 310 pseudogene|zinc finger protein 323" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2000-12-11 2013-01-08 2013-01-08 2023-01-20 64288 ENSG00000235109 OTTHUMG00000014518 uc010jra.4 NM_030899 "CCDS59001|CCDS4649" Q96LW9 610794 HGNC:14097 "ENST00000344279.11|NM_030899.5" HGNC:20812 ZSCAN32 zinc finger and SCAN domain containing 32 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ20417 ZNF434 zinc finger protein 434 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-04-09 2013-01-09 2013-01-09 2023-01-20 54925 ENSG00000140987 OTTHUMG00000129357 uc002cux.5 AK000424 NM_017810 "CCDS66920|CCDS10503|CCDS66921" Q9NX65 HGNC:20812 "ENST00000396852.9|NM_001284527.2" HGNC:16155 ZSWIM1 zinc finger SWIM-type containing 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ337O18.5 C20orf162 chromosome 20 open reading frame 162 Zinc fingers SWIM-type 90 2001-07-17 2003-12-19 2016-02-15 2023-01-20 90204 ENSG00000168612 OTTHUMG00000074023 uc010ghi.4 AL008726 NM_080603 CCDS13382 Q9BR11 24508175 MGI:1919221 RGD:1305715 HGNC:16155 "ENST00000372523.1|NM_080603.5" @@ -43679,20 +43681,20 @@ HGNC:43769 ZSWIM5P2 zinc finger SWIM-type containing 5 pseudogene 2 pseudogene p HGNC:43770 ZSWIM5P3 zinc finger SWIM-type containing 5 pseudogene 3 pseudogene pseudogene Approved 4q28.2 04q28.2 2012-02-23 2016-02-15 2016-02-15 391697 ENSG00000248958 OTTHUMG00000161310 NG_022037 PGOHUM00000299997 HGNC:43770 HGNC:29316 ZSWIM6 zinc finger SWIM-type containing 6 protein-coding gene gene with protein product Approved 5q12.1 05q12.1 KIAA1577 Zinc fingers SWIM-type 90 2003-12-17 2016-02-15 2023-01-20 57688 ENSG00000130449 OTTHUMG00000162388 uc003jsr.4 BC039438 NM_020928 CCDS47215 Q9HCJ5 "10997877|16427614" MGI:1914513 RGD:1306624 615951 410706 HGNC:29316 "ENST00000252744.6|NM_020928.2" HGNC:29316 HGNC:26993 ZSWIM7 zinc finger SWIM-type containing 7 protein-coding gene gene with protein product Approved 17p12 17p12 SWS1 SWIM domain containing Srs2 interacting protein 1 Zinc fingers SWIM-type 90 2007-03-27 2016-02-15 2023-01-20 125150 ENSG00000214941 OTTHUMG00000059308 uc002gpf.4 AK093384 NM_001042697 CCDS42266 Q19AV6 16710300 MGI:1916997 RGD:1310324 614535 HGNC:26993 "ENST00000399277.6|NM_001042697.2" HGNC:26993 -HGNC:23528 ZSWIM8 zinc finger SWIM-type containing 8 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 4832404P21Rik KIAA0913 KIAA0913 Zinc fingers SWIM-type 90 2004-05-27 2012-11-02 2016-02-15 2023-01-20 23053 ENSG00000214655 OTTHUMG00000018486 uc009xrl.4 "BC151206|BC040726" NM_001242487 "CCDS91266|CCDS60560|CCDS44440" A7E2V4 MGI:1919156 RGD:1309414 619213 HGNC:23528 "ENST00000604729.6|NM_001367799.1" +HGNC:23528 ZSWIM8 zinc finger SWIM-type containing 8 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 4832404P21Rik KIAA0913 KIAA0913 Zinc fingers SWIM-type 90 2004-05-27 2012-11-02 2016-02-15 2023-01-20 23053 ENSG00000214655 OTTHUMG00000018486 uc009xrl.4 "BC151206|BC040726" NM_001242487 "CCDS44440|CCDS91266|CCDS60560" A7E2V4 MGI:1919156 RGD:1309414 619213 HGNC:23528 "ENST00000604729.6|NM_001367799.1" HGNC:45103 ZSWIM8-AS1 ZSWIM8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 Antisense RNAs 1987 2013-02-15 2015-02-02 100507331 ENSG00000272589 OTTHUMG00000185986 uc057udo.1 NR_038357 ZSWIM8-AS1 HGNC:45103 HGNC:34495 ZSWIM9 zinc finger SWIM-type containing 9 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 LOC374920 C19orf68 chromosome 19 open reading frame 68 Zinc fingers SWIM-type 90 2008-08-06 2017-07-21 2017-07-21 2023-01-20 374920 ENSG00000185453 OTTHUMG00000183190 uc032iar.1 BC043386 NM_199341 CCDS74411 Q86XI8 12477932 MGI:2447816 RGD:1310257 HGNC:34495 "ENST00000614654.2|NM_199341.4" HGNC:21224 ZUP1 zinc finger containing ubiquitin peptidase 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 dJ412I7.3 "C6orf113|ZUFSP" "chromosome 6 open reading frame 113|zinc finger with UFM1 specific peptidase domain|zinc finger containing ubiquitin peptidase" "Zinc fingers C2H2-type|ZUP1 deubiquitinase" "28|1820" 2003-11-25 2018-02-12 2018-02-12 2023-01-20 221302 ENSG00000153975 OTTHUMG00000015445 uc003pxf.3 AK054582 NM_145062 CCDS5110 Q96AP4 "29476094|29576527" MGI:1919830 RGD:1307672 HGNC:21224 "ENST00000368576.8|NM_145062.3" HGNC:13194 ZW10 zw10 kinetochore protein protein-coding gene gene with protein product Approved 11q23.2 11q23.2 KNTC1AP "ZW10 (Drosophila) homolog, centromere/kinetochore protein|ZW10, kinetochore associated, homolog (Drosophila)" "NRZ tethering complex|RZZ complex" "1931|1933" 1999-05-11 2012-12-13 2023-01-20 9183 ENSG00000086827 OTTHUMG00000168190 uc001poe.4 U54996 NM_004724 CCDS8363 O43264 9298984 MGI:1349478 RGD:1309197 603954 HGNC:13194 "ENST00000200135.8|NM_004724.4" -HGNC:25468 ZWILCH zwilch kinetochore protein protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "FLJ10036|KNTC1AP" Zwilch, kinetochore associated, homolog (Drosophila) RZZ complex 1933 2005-07-25 2012-12-13 2023-01-20 55055 ENSG00000174442 OTTHUMG00000133194 uc002aqb.5 AK023175 NM_017975 "CCDS10219|CCDS73746" Q9H900 12686595 MGI:1915264 RGD:1583880 609984 HGNC:25468 "ENST00000307897.10|NM_017975.5" HGNC:25468 +HGNC:25468 ZWILCH zwilch kinetochore protein protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "FLJ10036|KNTC1AP" Zwilch, kinetochore associated, homolog (Drosophila) RZZ complex 1933 2005-07-25 2012-12-13 2023-01-20 55055 ENSG00000174442 OTTHUMG00000133194 uc002aqb.5 AK023175 NM_017975 "CCDS73746|CCDS10219" Q9H900 12686595 MGI:1915264 RGD:1583880 609984 HGNC:25468 "ENST00000307897.10|NM_017975.5" HGNC:25468 HGNC:13195 ZWINT ZW10 interacting kinetochore protein protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "KNTC2AP|SIP30|Zwint1" SNAP25 interacting protein of 30 kDa ZW10 interactor KNL1 complex 1575 2001-06-22 2013-05-01 2023-01-20 11130 ENSG00000122952 OTTHUMG00000018261 uc001jjx.2 AF067656 NM_001005413 O95229 10806105 MGI:1289227 RGD:628671 609177 HGNC:13195 "ENST00000373944.8|NM_007057.4" HGNC:13198 ZXDA zinc finger X-linked duplicated A protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 ZNF896 zinc finger protein 896 Zinc fingers C2H2-type 28 1993-11-02 2018-04-26 2023-01-20 7789 ENSG00000198205 OTTHUMG00000021688 uc004dve.4 L14787 NM_007156 CCDS14376 P98168 8268913 MGI:3694898 RGD:1563355 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZXDA 300235 HGNC:13198 "ENST00000358697.6|NM_007156.5" HGNC:13199 ZXDB zinc finger X-linked duplicated B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 ZNF905 Zinc fingers C2H2-type 28 1994-08-29 2018-04-26 2023-01-20 158586 ENSG00000198455 OTTHUMG00000021685 uc004dvd.4 L14788 NM_007157 CCDS35313 P98169 8268913 MGI:3694898 RGD:41201263 300236 HGNC:13199 "ENST00000374888.3|NM_007157.4" -HGNC:28160 ZXDC ZXD family zinc finger C protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "MGC11349|FLJ13861" Zinc fingers C2H2-type 28 2005-05-10 2023-01-20 79364 ENSG00000070476 OTTHUMG00000162754 uc003eiv.3 AK023923 NM_025112 "CCDS43146|CCDS43145" Q2QGD7 "8619474|9110174" MGI:1933108 RGD:1561296 615746 HGNC:28160 "ENST00000389709.8|NM_025112.5" +HGNC:28160 ZXDC ZXD family zinc finger C protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "MGC11349|FLJ13861" Zinc fingers C2H2-type 28 2005-05-10 2023-01-20 79364 ENSG00000070476 OTTHUMG00000162754 uc003eiv.3 AK023923 NM_025112 "CCDS43145|CCDS43146" Q2QGD7 "8619474|9110174" MGI:1933108 RGD:1561296 615746 HGNC:28160 "ENST00000389709.8|NM_025112.5" HGNC:32058 ZYG11A zyg-11 family member A, cell cycle regulator protein-coding gene gene with protein product Approved 1p32.3 01p32.3 ZYG11 zyg-11 homolog A (C. elegans) "ZYG11 cell cycle regulator family|Armadillo like helical domain containing" "6|1492" 2005-07-11 2012-12-10 2023-01-20 440590 ENSG00000203995 OTTHUMG00000008923 uc001cuk.3 NM_001004339 "CCDS76166|CCDS44148" Q6WRX3 11719588 MGI:2446208 RGD:1309582 618675 HGNC:32058 "ENST00000371528.2|NM_001004339.3" HGNC:38032 ZYG11AP1 zyg-11 family member A, cell cycle regulator pseudogene 1 pseudogene pseudogene Approved 9q31.1 09q31.1 zyg-11 homolog A (C. elegans) pseudogene 1 2010-03-23 2012-12-10 2015-05-07 100131879 ENSG00000232242 OTTHUMG00000020394 NG_021631 PGOHUM00000304018 HGNC:38032 HGNC:25820 ZYG11B zyg-11 family member B, cell cycle regulator protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ13456 ZYG11 "zyg-11 homolog (C. elegans)|zyg-11 homolog B (C. elegans)" "ZYG11 cell cycle regulator family|Armadillo like helical domain containing" "6|1492" 2005-06-06 2005-07-11 2012-12-10 2023-01-20 79699 ENSG00000162378 OTTHUMG00000008938 uc001cuj.4 AB051517 NM_024646 CCDS30717 Q9C0D3 11214970 MGI:2685277 RGD:1307814 618673 HGNC:25820 "ENST00000294353.7|NM_024646.3" HGNC:25820 HGNC:13200 ZYX zyxin protein-coding gene gene with protein product Approved 7q34 07q34 "Zyxin family|MicroRNA protein coding host genes" "1402|1691" 1997-10-16 2023-01-20 7791 ENSG00000159840 OTTHUMG00000023822 uc003wcx.5 X95735 NM_003461 CCDS5883 Q15942 "8917469|8940160" MGI:103072 RGD:620698 602002 HGNC:13200 "ENST00000322764.10|NM_003461.5" HGNC:51695 ZYXP1 zyxin pseudogene 1 pseudogene pseudogene Approved 8q24.23 08q24.23 2015-05-07 2015-05-07 106480342 ENSG00000274572 OTTHUMG00000187758 NG_044600 PGOHUM00000303383 HGNC:51695 HGNC:29027 ZZEF1 zinc finger ZZ-type and EF-hand domain containing 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "KIAA0399|ZZZ4|FLJ10821" zinc finger, ZZ-type with EF hand domain 1 "Zinc fingers ZZ-type|EF-hand domain containing" "91|863" 2004-02-27 2016-02-12 2023-01-20 23140 ENSG00000074755 OTTHUMG00000090741 uc002fxe.4 BC035319 NM_015113 CCDS11043 O43149 9455477 MGI:2444286 RGD:1311189 619459 HGNC:29027 "ENST00000381638.7|NM_015113.4" -HGNC:24523 ZZZ3 zinc finger ZZ-type containing 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "DKFZP564I052|ATAC1" ATAC component 1 homolog (Drosophila) "Zinc fingers ZZ-type|Myb/SANT domain containing|ATAC complex" "91|532|1058" 2004-01-13 2016-02-12 2023-01-20 26009 ENSG00000036549 OTTHUMG00000009652 uc001dhq.4 AL080063 NM_015534 "CCDS677|CCDS76172" Q8IYH5 "16428443|21304275" MGI:1920453 RGD:1565468 619892 HGNC:24523 "ENST00000370801.8|NM_015534.6" +HGNC:24523 ZZZ3 zinc finger ZZ-type containing 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "DKFZP564I052|ATAC1" ATAC component 1 homolog (Drosophila) "Zinc fingers ZZ-type|Myb/SANT domain containing|ATAC complex" "91|532|1058" 2004-01-13 2016-02-12 2023-01-20 26009 ENSG00000036549 OTTHUMG00000009652 uc001dhq.4 AL080063 NM_015534 "CCDS76172|CCDS677" Q8IYH5 "16428443|21304275" MGI:1920453 RGD:1565468 619892 HGNC:24523 "ENST00000370801.8|NM_015534.6" diff --git a/server/src/main/resources/hp-simple-non-classified.json b/server/src/main/resources/hp-simple-non-classified.json index 502e5a9a..5697b8b7 100644 --- a/server/src/main/resources/hp-simple-non-classified.json +++ b/server/src/main/resources/hp-simple-non-classified.json @@ -43,9 +43,9 @@ "val" : "Please see license of HPO at http://www.human-phenotype-ontology.org" }, { "pred" : "http://www.w3.org/2002/07/owl#versionInfo", - "val" : "2023-06-06" + "val" : "2023-06-17" } ], - "version" : "http://purl.obolibrary.org/obo/hp/releases/2023-06-06/hp-simple-non-classified.json" + "version" : "http://purl.obolibrary.org/obo/hp/releases/2023-06-17/hp-simple-non-classified.json" }, "nodes" : [ { "id" : "http://purl.obolibrary.org/obo/BFO_0000050", @@ -19951,8 +19951,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Behavior that consists of repetitive acts that are characterized by the feeling that one 'has to' perform them while one is aware that these acts are not in line with one's overall goal", - "xrefs" : [ "PMID:31016439" ] + "val" : "Behavior that consists of repetitive acts that are characterized by the feeling that one 'has to' perform them while one is aware that these acts are not in line with one's overall goal" }, "synonyms" : [ { "pred" : "hasExactSynonym", @@ -20173,12 +20172,11 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_0000732", - "lbl" : "Inflexible adherence to routines or rituals", + "lbl" : "Inflexible adherence to routines", "type" : "CLASS", "meta" : { "definition" : { - "val" : "A need to strictly adhere to repetitive routines or patterns of behavior; when one becomes upset or distressed when their routines are disrupted or altered.", - "xrefs" : [ "PMID:12469238" ] + "val" : "A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered." }, "xrefs" : [ { "val" : "UMLS:C1837653" @@ -20206,8 +20204,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.", - "xrefs" : [ "PMID:22161914" ] + "val" : "Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose." }, "synonyms" : [ { "pred" : "hasExactSynonym", @@ -38095,6 +38092,9 @@ "val" : "An abnormal increase in the pitch (frequency) of the voice." }, "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Abnormally high-pitched voice" + }, { "synonymType" : "http://purl.obolibrary.org/obo/hp#layperson", "pred" : "hasExactSynonym", "val" : "High pitched voice", @@ -49908,8 +49908,15 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Abnormalities in the sound of a person's speech or vocalization which are not necessarily associated with a known physical cause." + "val" : "Abnormalities in the sound of a person's speech or vocalization not necessarily associated with a known physical cause or due to stuttering or stammering." }, + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Abnormal speech" + }, { + "pred" : "hasExactSynonym", + "val" : "Abnormal vocalization" + } ], "xrefs" : [ { "val" : "MSH:D013064" }, { @@ -53315,7 +53322,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "The state of not having relationships with peers. This may be caused by behavioral or physical barriers." + "val" : "The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers." }, "xrefs" : [ { "val" : "UMLS:C1845337" @@ -140823,7 +140830,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Difficulty producing recognizable speech sounds." + "val" : "Impairment in the physical production of speech sounds." }, "comments" : [ "Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities)." ], "xrefs" : [ { @@ -173578,8 +173585,15 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "An abnormally low-pitched voice." + "val" : "An abnormal decrease in the pitch of the voice." }, + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Low pitched voice" + }, { + "pred" : "hasExactSynonym", + "val" : "Low-pitched voice" + } ], "xrefs" : [ { "val" : "UMLS:C4023915" } ], @@ -179615,7 +179629,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "The repetition of vocalizations." + "val" : "The repetition of words or phrases that are odd or used in a nonsocial manner. These can be words or phrases the person has heard or invented." }, "synonyms" : [ { "synonymType" : "http://purl.obolibrary.org/obo/hp#layperson", @@ -186543,7 +186557,7 @@ "meta" : { "definition" : { "val" : "Over-sensitivity to certain frequency ranges of sound.", - "xrefs" : [ "PMID:14645606|PMID:14647932|PMID:31669363" ] + "xrefs" : [ "PMID:14645606", "PMID:14647932", "PMID:31669363" ] }, "comments" : [ "Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Listeners with hearing loss often struggle to detect low-level sounds, but as the sound intensity rises above threshold, loudness initially grows at a faster than normal rate, but the growth rate slows with increasing intensity so that normal loudness is achieved at high intensities. This phenomenon is referred to as loudness recruitment. However, in some hearing-impaired listeners,loudness continues to grow more rapidly than normal at suprathreshold intensities causing moderately intense sounds to be perceived as louder than normal, a debilitating condition known as hyperacusis or loudness intolerance." ], "subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ], @@ -224088,7 +224102,8 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Habitual clasping and squeezing of the hands." + "val" : "Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.", + "xrefs" : [ "PMID:28838622" ] }, "synonyms" : [ { "pred" : "hasExactSynonym", @@ -224135,7 +224150,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Habitual repetitive movement of the entire body." + "val" : "Habitual repetitive movement of the entire body, front to back or side to side." }, "xrefs" : [ { "val" : "UMLS:C4023013" @@ -239473,7 +239488,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "A reduced ability to participate in the back-and-forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first." + "val" : "A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person." }, "synonyms" : [ { "pred" : "hasExactSynonym", @@ -258694,7 +258709,7 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_0025654", - "lbl" : "Placenta acreta", + "lbl" : "Placenta accreta", "type" : "CLASS", "meta" : { "definition" : { @@ -263996,8 +264011,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Results from continuous and inappropriate maintenance of a current set, framework, or behavior.", - "xrefs" : [ "PMID:3782451" ] + "val" : "Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention." }, "synonyms" : [ { "pred" : "hasExactSynonym", @@ -273281,10 +273295,9 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "When an activity, substance, object, or behavior becomes the main focus of a person's life excluding other activities, or has begun to harm the individual or others physically, mentally, or socially can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.", - "xrefs" : [ "PMID:29098666" ] + "val" : "When an activity, substance, object, or behavior becomes a major focus of a person's life excluding other activities, or has begun to harm the individual or others physically, mentally, or socially can be considered addictive behavior. A person can become addicted or compulsively engaged with anything." }, - "comments" : [ "Several behaviors, besides psychoactive substance ingestion, produce short-term reward that may engender persistent behavior despite knowledge of adverse consequences, i.e., diminished control over the behavior." ], + "comments" : [ "Several behaviors, besides psychoactive substance ingestion, produce short-term rewards that may engender persistent behavior despite knowledge of adverse consequences, i.e., diminished control over the behavior." ], "synonyms" : [ { "synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling", "pred" : "hasExactSynonym", @@ -283412,11 +283425,11 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_0031431", - "lbl" : "Persistent repetition of words or sounds", + "lbl" : "Persistent repetition of sounds", "type" : "CLASS", "meta" : { "definition" : { - "val" : "Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others." + "val" : "Repetition of sounds with no meaning." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", @@ -283440,14 +283453,13 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_0031432", - "lbl" : "Atypical repetitive behaviors", + "lbl" : "Restricted or repetitive behaviors or interests", "type" : "CLASS", "meta" : { "definition" : { - "val" : "A broad range of behaviors that are repeated including simple motor stereotypies and tics as well as more complex repetitive movements or compulsions.", - "xrefs" : [ "PMID:33990680" ] + "val" : "A broad range of compulsive behaviors that are repeated including simple motor stereotypies and tics as well as more complex repetitive movements or compulsions." }, - "comments" : [ "Simple motor stereotypies often involve rhythmic or repetive movements of specific components of the body including upper extremeties or head and face, whereas more complex repetitive movements often include whole body movements (e.g., body rocking, self hugging)." ], + "comments" : [ "Simple motor stereotypies often involve rhythmic or repetitive movements of specific components of the body including upper extremities or head and face, whereas more complex repetitive movements often include whole body movements (e.g., body rocking, self-hugging)." ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", "val" : "2017-09-16T12:17:41Z" @@ -283499,7 +283511,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Abnormalities in the patterns of stress or intonation of speech or vocalization." + "val" : "Abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", @@ -283527,8 +283539,13 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice." + "val" : "A speech pattern characterized by an abnormal lack of tone in the voice." }, + "comments" : [ "Often accompanied by reduced variation of rate and rhythm." ], + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Flat speech" + } ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", "val" : "2017-09-16T12:36:08Z" @@ -283557,6 +283574,17 @@ "definition" : { "val" : "A speech pattern characterized by abnormal fluctuations in the pitch of the voice." }, + "comments" : [ "Often accompanied by altered speech rate and rhythm." ], + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Melodic speech" + }, { + "pred" : "hasExactSynonym", + "val" : "Sing song intonation" + }, { + "pred" : "hasExactSynonym", + "val" : "Sing-song intonation" + } ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", "val" : "2017-09-16T12:39:11Z" @@ -290236,8 +290264,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Repetition of one's own words or phrases.", - "xrefs" : [ "PMID:27527544" ] + "val" : "Repetition of one's own words or phrases." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", @@ -337582,7 +337609,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Any abnormal behavior related to communication." + "val" : "Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", @@ -338562,9 +338589,9 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.", - "xrefs" : [ "PMID:16911975" ] + "val" : "Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures." }, + "comments" : [ "Gestures refer to movements of the arms, hand, shoulders, or head and do not include facial expressions." ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", "val" : "2022-12-10T12:24:11Z" @@ -339116,11 +339143,11 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_0034510", - "lbl" : "Abnormal muscle tissue enzyme activity", + "lbl" : "Abnormal muscle tissue enzyme activity or level", "type" : "CLASS", "meta" : { "definition" : { - "val" : "Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen." + "val" : "Any deviation from the normal activity or histological staining of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", @@ -344137,6 +344164,213 @@ "val" : "https://orcid.org/0000-0002-0736-9199" } ] } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034782", + "lbl" : "Obstipation", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "Obstipation is the inability to pass either stool or flatus (gas)." + }, + "comments" : [ "Obstipation can be a sign of an acute obstruction of the GI tract, either of the small or large bowel." ], + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Lack of flatulence" + }, { + "pred" : "hasExactSynonym", + "val" : "No gas passage" + }, { + "pred" : "hasRelatedSynonym", + "val" : "Tympanic distended abdomen" + } ], + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T12:48:58Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034783", + "lbl" : "Posttussive emesis", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "Vomiting following a coughing spell." + }, + "comments" : [ "Individuals with gastroesophageal reflux disease (GERD) will frequently vomit when coughing for a non-GI reason. Vomiting occurs during these coughing spells because the intrabdominal pressure is high from the coughing and the propensity to reflux results in stomach contents emerging as vomit. This is a historical question that allows a parent to impart information suggesting GERD at an age when it is difficult to obtain a reliable GERD history from the child." ], + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T12:55:05Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034784", + "lbl" : "Vasculitis by anatomical site", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "Vasculitis categorized according to the anatomical site where the finding is localized." + }, + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T12:58:15Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034785", + "lbl" : "Vasculitis by histology", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "Vasculitis categorized according to type of histological abnormality." + }, + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T12:59:31Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034786", + "lbl" : "Leukocytoclastic vasculitis", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "A type of vasculitis characterized by the presence of debris of neutrophils within the blood vessel walls." + }, + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T13:00:23Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034787", + "lbl" : "Accumulation of lipid droplets in small-bowel enterocytes", + "type" : "CLASS", + "meta" : { + "comments" : [ "The finding can be observed by strong brown cytoplasmic peroxidase staining of enterozytes in a biopsy specimen. See Figure 2 of PMID: 2426307." ], + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T13:14:15Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034788", + "lbl" : "Pericardial friction rub", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds.", + "xrefs" : [ "PMID:31194424" ] + }, + "comments" : [ "Pericardial friction rubs can be differentiated from pleural friction rubs because they occur independently of breathing. A pericardial rub is highly specific for acute pericarditis. It is generally heard over the left sternal border, it is often louder at inspiration but sometimes can be better heard on forced expiration while the patient bends forward. In most cases, the rub is triphasic (audible in atrial, ventricular systole, and ventricular diastole phases) and is of high frequency." ], + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Cardiac rub" + } ], + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T13:19:02Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034789", + "lbl" : "Muscular vasculitis", + "type" : "CLASS", + "meta" : { + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Skeletal muscle vasculitis" + } ], + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T13:30:38Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034790", + "lbl" : "Abnormal muscle succinate dehydrogenase staining", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "Any deviation from the normal amount of staining of succinate dehydrogenase in skeletal muscle tissue.", + "xrefs" : [ "PMID:27556822" ] + }, + "comments" : [ "Succinate dehydrogenase (SDH) is a mitochondrial enzyme complex located in the inner mitochondrial membrane that has dual roles in the oxidation of succinate to fumarate in the Krebs cycle and in electron transport during oxidative phosphorylation." ], + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T13:36:22Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034791", + "lbl" : "Increased muscle succinate dehydrogenase staining", + "type" : "CLASS", + "meta" : { + "comments" : [ "Staining of succinate dehydrogenase in skeletal muscle tissue above the upper limit of normal." ], + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T13:39:03Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034792", + "lbl" : "Decreased muscle succinate dehydrogenase staining", + "type" : "CLASS", + "meta" : { + "comments" : [ "Staining of succinate dehydrogenase in skeletal muscle tissue below the lower limit of normal." ], + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T13:40:21Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_0034793", + "lbl" : "Small intestinal hamartoma", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the small intestine." + }, + "basicPropertyValues" : [ { + "pred" : "http://purl.org/dc/elements/1.1/date", + "val" : "2023-06-12T13:42:19Z" + }, { + "pred" : "http://purl.org/dc/terms/creator", + "val" : "https://orcid.org/0000-0002-0736-9199" + } ] + } }, { "id" : "http://purl.obolibrary.org/obo/HP_0040004", "lbl" : "Abnormality of corneal shape", @@ -347640,8 +347874,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Abnormal and compulsive consumption of food, liquid, or objects that could have negative consequences for the individual", - "xrefs" : [ "PMID:35682170" ] + "val" : "Abnormal and compulsive consumption of food, liquid, or objects that could have negative consequences for the individual." }, "synonyms" : [ { "synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling", @@ -377596,6 +377829,9 @@ "lbl" : "Vasculitis in the skin", "type" : "CLASS", "meta" : { + "definition" : { + "val" : "A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue." + }, "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "Cutaneous vasculitis", @@ -394982,12 +395218,11 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_4000069", - "lbl" : "Persistent preoccupation with parts of objects or unusual objects", + "lbl" : "Persistent preoccupation with parts of objects", "type" : "CLASS", "meta" : { "definition" : { - "val" : "A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than driving the toy car.", - "xrefs" : [ "PMID:25030967" ] + "val" : "A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than drive the toy car." }, "synonyms" : [ { "pred" : "hasExactSynonym", @@ -395028,8 +395263,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).", - "xrefs" : [ "PMID:21454386" ] + "val" : "Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests)." }, "synonyms" : [ { "pred" : "hasExactSynonym", @@ -395094,7 +395328,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Atypical language feature charaterized by first vs. second or third person pronoun errors such as using 'you' or 'he/she' in place of 'I'." + "val" : "Atypical language features characterized by first vs. second or third person pronoun errors such as using 'you' or 'he/she' in place of 'I'." }, "comments" : [ "These errors are attested in normal toddlers' spontaneous speech, albeit at varying rates; pronouns typically emerge around 1.5 years of age and reversals are most common before 2.5 years. A higher rate of pronoun reversal may be expected of people with autism spectrum disorder." ], "basicPropertyValues" : [ { @@ -395123,8 +395357,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Inappropriate use of words that have no phonological or semantic similarity to the intended word.", - "xrefs" : [ "PMID:1864825" ] + "val" : "Consistent use of an unusual way of referring to something that is idiosyncratic to the individual." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", @@ -395219,9 +395452,12 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.", - "xrefs" : [ "PMID:23880382" ] + "val" : "A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners." }, + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Unusual preoccupations" + } ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", "val" : "2022-03-02T16:27:05Z" @@ -395312,32 +395548,13 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_4000080", - "lbl" : "Reduced social initiation", "type" : "CLASS", "meta" : { - "definition" : { - "val" : "Failure of a person to initiate social interactions with others. For a social interaction to have been initiated by someone, there must have been an absence of social interactions from either party for a period. The interaction must also be unprompted by another party.", - "xrefs" : [ "PMID:18064552" ] - }, "basicPropertyValues" : [ { - "pred" : "http://purl.org/dc/elements/1.1/date", - "val" : "2022-03-02T16:47:44Z" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0001-9112-5148" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-4142-7153" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-6670-9157" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-9593-5508" - }, { - "pred" : "http://purl.org/dc/terms/creator", - "val" : "https://orcid.org/0000-0002-0736-9199" - } ] + "pred" : "http://purl.obolibrary.org/obo/IAO_0100001", + "val" : "HP:5200027" + } ], + "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/HP_4000081", @@ -395374,8 +395591,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.", - "xrefs" : [ "PMID:25428293" ] + "val" : "Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", @@ -395399,7 +395615,7 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_4000083", - "lbl" : "Reduced interest in peers", + "lbl" : "Ignores peers", "type" : "CLASS", "meta" : { "definition" : { @@ -395431,7 +395647,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Decreased sharing of interests with others." + "val" : "Decreased sharing of interests with others appropriate to culture and developmental level." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", @@ -395459,8 +395675,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life.", - "xrefs" : [ "PMID:26803417" ] + "val" : "An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/elements/1.1/date", @@ -395575,8 +395790,9 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Abnormality in use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication." + "val" : "Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication." }, + "comments" : [ "Gestures refer to movements of the arms, hand, shoulders, or head and do not include facial expressions." ], "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "Abnormal communicative gesture use", @@ -397905,12 +398121,16 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_5200004", - "lbl" : "Reduced interest in others", + "lbl" : "Reduced response to another's attempt to get direct attention", "type" : "CLASS", "meta" : { "definition" : { "val" : "A reduced interest in all people including both peers and non-peers." }, + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Ignores others" + } ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-9112-5148" @@ -397975,7 +398195,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Consistent use of an invented term, word, or phrase that is idiosyncratic to the individual." + "val" : "Consistent use of an invented word that is unique to an individual." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", @@ -398304,6 +398524,9 @@ "val" : "A lack of awareness or failure to apply social rules in multiple social settings which are simple or intuitive to others in the same social setting." }, "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Abnormal social awareness" + }, { "pred" : "hasExactSynonym", "val" : "Abnormal social understanding", "xrefs" : [ "https://orcid.org/0000-0001-9112-5148", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-6670-9157", "https://orcid.org/0000-0002-9593-5508" ] @@ -398320,6 +398543,9 @@ }, { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0002-9593-5508" + }, { + "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId", + "val" : "HP:5200025" } ] } }, { @@ -398368,26 +398594,14 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_5200025", - "lbl" : "Abnormal social awareness", + "lbl" : "obsolete Abnormal social awareness", "type" : "CLASS", "meta" : { - "definition" : { - "val" : "Reduced or lack of awareness of social cues or context as is appropriate given social and cultural norms." - }, - "comments" : [ "Ability to imitate others is normal in children during early cognitive development (4-5 years old) and can be absent in children with autism." ], "basicPropertyValues" : [ { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0001-9112-5148" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-4142-7153" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-6670-9157" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-9593-5508" - } ] + "pred" : "http://purl.obolibrary.org/obo/IAO_0100001", + "val" : "HP:5200021" + } ], + "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/HP_5200026", @@ -398395,9 +398609,17 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "An inability to imitate a task or the movements of others.", + "val" : "A reduced ability to imitate a task or the movements of others.", "xrefs" : [ "PMID:18221343" ] }, + "comments" : [ "The ability to imitate others is common in children during early cognitive development (4-5 years old) and can be abnormal in children with autism." ], + "synonyms" : [ { + "pred" : "hasNarrowSynonym", + "val" : "Deferred imitation of others" + }, { + "pred" : "hasNarrowSynonym", + "val" : "Reduced immediate imitation of others" + } ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-9112-5148" @@ -398410,19 +398632,33 @@ }, { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0002-9593-5508" + }, { + "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId", + "val" : "HP:5200026" + }, { + "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId", + "val" : "HP:5200032" } ] } }, { "id" : "http://purl.obolibrary.org/obo/HP_5200027", - "lbl" : "Abnormal social initiation", + "lbl" : "Reduced attempt to get or direct another's attention", "type" : "CLASS", "meta" : { "definition" : { "val" : "An abnormality in one's tendency to initiate social interactions." }, + "comments" : [ "This can be seen in patients with long-standing social deficits as is seen in autism and can be seen in episodic disorders such as a severe depressive episode." ], + "synonyms" : [ { + "pred" : "hasNarrowSynonym", + "val" : "Reduced social initiation" + } ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-9112-5148" + }, { + "pred" : "http://purl.org/dc/terms/contributor", + "val" : "https://orcid.org/0000-0002-0736-9199" }, { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0002-4142-7153" @@ -398432,11 +398668,14 @@ }, { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0002-9593-5508" + }, { + "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId", + "val" : "HP:4000080" } ] } }, { "id" : "http://purl.obolibrary.org/obo/HP_5200028", - "lbl" : "Abnormal social response", + "lbl" : "Reduced response to social cues", "type" : "CLASS", "meta" : { "definition" : { @@ -398461,9 +398700,6 @@ "lbl" : "Social disinhibition", "type" : "CLASS", "meta" : { - "definition" : { - "val" : "A lack of social constraint shown when one acts on tendencies or desires when doing so breaks a social rule or norm. For example, when someone asks personal questions because of their curiosity, despite their private nature and the discomfort the questions may cause others." - }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-9112-5148" @@ -398486,7 +398722,6 @@ "definition" : { "val" : "A communicative abnormality where one's nonverbal and verbal communication are poorly integrated. This may occur when verbal and nonverbal communication are intact alone but are abnormal when used together, or an abnormality in the use of typically integrated communication such as the use of beat gestures during speech." }, - "comments" : [ "Ability to imitate others is normal in children during early cognitive development (4-5 years old) and can be absent in children with autism." ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-9112-5148" @@ -398503,50 +398738,25 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_5200031", - "lbl" : "Deferred imitation of others", + "lbl" : "obsolete Deferred imitation of others", "type" : "CLASS", "meta" : { - "definition" : { - "val" : "An inability to imitate a task or the movements of others for a period of time (such as an hour) after one has seen the task or movement.", - "xrefs" : [ "PMID:18221343" ] - }, - "comments" : [ "Ability to imitate others is normal in children during early cognitive development (4-5 years old) and can be absent in children with autism." ], "basicPropertyValues" : [ { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0001-9112-5148" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-4142-7153" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-6670-9157" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-9593-5508" - } ] + "pred" : "http://purl.obolibrary.org/obo/IAO_0100001", + "val" : "HP:5200026" + } ], + "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/HP_5200032", - "lbl" : "Reduced immediate imitation of others", + "lbl" : "obsolete Reduced immediate imitation of others", "type" : "CLASS", "meta" : { - "definition" : { - "val" : "An inability to imitate a task or the movements immediately after one has seen the task or movement.", - "xrefs" : [ "PMID:18221343" ] - }, "basicPropertyValues" : [ { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0001-9112-5148" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-4142-7153" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-6670-9157" - }, { - "pred" : "http://purl.org/dc/terms/contributor", - "val" : "https://orcid.org/0000-0002-9593-5508" - } ] + "pred" : "http://purl.obolibrary.org/obo/IAO_0100001", + "val" : "HP:5200026" + } ], + "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/HP_5200035", @@ -398556,7 +398766,6 @@ "definition" : { "val" : "Failure of a child to integrate with peers in imaginative play." }, - "comments" : [ "This term describes a behavioral abnormality and does not apply to those who do not respond to cues due to hearing impairment." ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-9112-5148" @@ -398579,6 +398788,7 @@ "definition" : { "val" : "A consistent failure to make any response to verbal cues." }, + "comments" : [ "This term describes a behavioral abnormality and does not apply to those who do not respond to cues due to hearing impairment." ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-9112-5148" @@ -398599,7 +398809,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "A reduction in producing a sympathetic response where a sympathetic response may expect, such as providing comfort when someone is sad or crying." + "val" : "A reduction in showing sympathy to others, such as providing comfort when someone is sad or crying." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", @@ -398623,6 +398833,10 @@ "definition" : { "val" : "Slow speech." }, + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Bradylogia" + } ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-8430-6039" @@ -398639,12 +398853,16 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_5200039", - "lbl" : "Speech too loud for context", + "lbl" : "Excessively loud speech", "type" : "CLASS", "meta" : { "definition" : { - "val" : "Speech too loud for context." + "val" : "Speech which is abnormally loud that is not due to a structural or muscular abnormality." }, + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Speech too loud for context" + } ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-8430-6039" @@ -398661,12 +398879,19 @@ } }, { "id" : "http://purl.obolibrary.org/obo/HP_5200040", - "lbl" : "Speech too soft for context", + "lbl" : "Excessively quiet voice", "type" : "CLASS", "meta" : { "definition" : { - "val" : "Speech too soft for context." + "val" : "Speech which is abnormally quiet or inappropriate whispering that is not due to a structural or muscular abnormality." }, + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Excessively soft voice" + }, { + "pred" : "hasExactSynonym", + "val" : "Speech to soft for context" + } ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-8430-6039" @@ -398770,7 +398995,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Abnormal behavior consisting seeking specific sensory stimulation or an abnormal avoidance of a specific sensory stimulation." + "val" : "Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", @@ -398888,10 +399113,8 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Hand washing behavior that is excessive for the situational context.", - "xrefs" : [ "PMID:31016439" ] + "val" : "Hand washing behavior that is excessive for the situational context." }, - "comments" : [ "Typical examples of resistance to trivial environmental changes include: distress when receiving the wrong color cup or when furniture is moved." ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-8430-6039" @@ -398915,10 +399138,9 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Distress in response to violations of one's environmental expectations.", - "xrefs" : [ "PMID:30078460" ] + "val" : "Distress in response to minor changes in one's environmental expectations." }, - "comments" : [ "This term describes a behavioral abnormality and does not apply to those who do not respond to cues due to hearing impairment." ], + "comments" : [ "Typical examples of resistance to trivial environmental changes include distress when receiving the wrong color cup or when furniture is moved." ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-8430-6039" @@ -398944,7 +399166,7 @@ "definition" : { "val" : "A consistent failure to nonverbally respond to verbal cues such as a failure to shift attention or look at the source of the cue." }, - "comments" : [ "This term describes a behavioral abnormality and does not apply to those who do not respond to cues due to hearing or language impairment." ], + "comments" : [ "This term describes a behavioral abnormality and does not apply to those who do not respond to cues due to hearing impairment." ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-9112-5148" @@ -398967,6 +399189,7 @@ "definition" : { "val" : "A consistent failure to verbally respond to verbal cues which are intended to elicit a verbal response." }, + "comments" : [ "This term describes a behavioral abnormality and does not apply to those who do not respond to cues due to hearing or language impairment." ], "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", "val" : "https://orcid.org/0000-0001-9112-5148" @@ -399031,7 +399254,7 @@ "type" : "CLASS", "meta" : { "definition" : { - "val" : "Absence or reduction in the use of pointing to direct another's attention." + "val" : "Absence or reduction in the use of pointing to request or direct another's attention." }, "basicPropertyValues" : [ { "pred" : "http://purl.org/dc/terms/contributor", @@ -399439,6 +399662,171 @@ "val" : "https://orcid.org/0000-0003-3777-1389" } ] } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200100", + "lbl" : "Facial expressions not directed to others", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200101", + "lbl" : "Limited Repertoire of gestures", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200102", + "lbl" : "Reduced social smiling", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200103", + "lbl" : "Reduced social responsiveness", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200104", + "lbl" : "Abnormal play", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "An abnormality in a child's ability play." + }, + "comments" : [ "Does not apply to the presence of abnormal play. The presence of abnormal play should be specified under atypical repetitive behaviors." ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200105", + "lbl" : "Reduced imaginative play skills", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play).", + "xrefs" : [ "PMID:26263228" ] + } + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200108", + "lbl" : "Nonfunctional or atypical use of objects in play", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "Use of objects in atypical, unimaginitive ways other than for which they are intended (banging, throwing, shaking, sorting, lining up, spinning)." + } + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200110", + "lbl" : "Preferes being alone", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200111", + "lbl" : "Avoids emotional intimacy", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200113", + "lbl" : "Offers information", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200116", + "lbl" : "Difficulty understanding nonliteral meaning of conversation", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200117", + "lbl" : "Poor recognition of injustice", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200118", + "lbl" : "Difficulty recognizing another's emotions", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200119", + "lbl" : "Difficulty understanding humor", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200120", + "lbl" : "Abnormality in emotional social interactions", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200121", + "lbl" : "Treats people like objects", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200122", + "lbl" : "Difficulty communicating ones emotions", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200123", + "lbl" : "Abnormal response to social norms", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200124", + "lbl" : "Indifference to social norms", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200125", + "lbl" : "Aggression toward others", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200126", + "lbl" : "Aggression toward cargivers", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200127", + "lbl" : "Aggression toward non caregivers", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200128", + "lbl" : "Deficit applying language skills across context", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200129", + "lbl" : "Abnormal rituals", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them." + } + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200130", + "lbl" : "Insistence on sameness", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200131", + "lbl" : "Reduced use of language for social purposes", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200132", + "lbl" : "Atypical sensory examination of objects", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200133", + "lbl" : "Intense attachment to unusual objects", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200134", + "lbl" : "Jumping", + "type" : "CLASS", + "meta" : { + "definition" : { + "val" : "An excessive frequency of jumping in place." + }, + "synonyms" : [ { + "pred" : "hasExactSynonym", + "val" : "Bouncing" + }, { + "pred" : "hasExactSynonym", + "val" : "Hopping" + }, { + "pred" : "hasExactSynonym", + "val" : "Pogo-ing" + } ] + } + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200135", + "lbl" : "Delay in the acquisition of play skills", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200136", + "lbl" : "Reduced social reciprocity with peers", + "type" : "CLASS" + }, { + "id" : "http://purl.obolibrary.org/obo/HP_5200137", + "lbl" : "Reduced attempt to get or direct attention of peers", + "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_5201000", "lbl" : "Incomplete unilateral cleft lip", @@ -402604,7 +402992,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0000721", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0000708" + "obj" : "http://purl.obolibrary.org/obo/HP_5200104" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0000722", "pred" : "is_a", @@ -402636,7 +403024,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0000732", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0030223" + "obj" : "http://purl.obolibrary.org/obo/HP_5200130" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0000733", "pred" : "is_a", @@ -402700,7 +403088,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0000748", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0000719" + "obj" : "http://purl.obolibrary.org/obo/HP_5200123" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0000749", "pred" : "is_a", @@ -403845,10 +404233,6 @@ "sub" : "http://purl.obolibrary.org/obo/HP_0001054", "pred" : "is_a", "obj" : "http://purl.obolibrary.org/obo/HP_0003764" - }, { - "sub" : "http://purl.obolibrary.org/obo/HP_0001054", - "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0010566" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0001055", "pred" : "is_a", @@ -417588,7 +417972,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0005291", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0002633" + "obj" : "http://purl.obolibrary.org/obo/HP_0034785" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0005292", "pred" : "is_a", @@ -417612,7 +417996,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0005300", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0002633" + "obj" : "http://purl.obolibrary.org/obo/HP_0034785" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0005301", "pred" : "is_a", @@ -417652,7 +418036,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0005310", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0002633" + "obj" : "http://purl.obolibrary.org/obo/HP_0034784" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0005311", "pred" : "is_a", @@ -417680,7 +418064,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0005318", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0002633" + "obj" : "http://purl.obolibrary.org/obo/HP_0034784" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0005318", "pred" : "is_a", @@ -444960,7 +445344,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0011944", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0002633" + "obj" : "http://purl.obolibrary.org/obo/HP_0034784" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0011945", "pred" : "is_a", @@ -459972,7 +460356,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0031814", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0010529" + "obj" : "http://purl.obolibrary.org/obo/HP_4000072" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0031815", "pred" : "is_a", @@ -471076,7 +471460,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0034434", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + "obj" : "http://purl.obolibrary.org/obo/HP_0000708" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0034435", "pred" : "is_a", @@ -472188,7 +472572,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0034705", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0002633" + "obj" : "http://purl.obolibrary.org/obo/HP_0034784" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0034706", "pred" : "is_a", @@ -472497,6 +472881,54 @@ "sub" : "http://purl.obolibrary.org/obo/HP_0034781", "pred" : "is_a", "obj" : "http://purl.obolibrary.org/obo/HP_0000197" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034782", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0002019" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034783", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0002013" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034784", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0002633" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034785", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0002633" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034786", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0034785" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034787", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0025129" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034788", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0031657" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034789", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0034784" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034790", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0034510" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034791", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0034790" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034792", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0034790" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_0034793", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0010566" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0040004", "pred" : "is_a", @@ -480129,10 +480561,6 @@ "sub" : "http://purl.obolibrary.org/obo/HP_0100763", "pred" : "is_a", "obj" : "http://purl.obolibrary.org/obo/HP_0002715" - }, { - "sub" : "http://purl.obolibrary.org/obo/HP_0100764", - "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0010566" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0100764", "pred" : "is_a", @@ -481356,11 +481784,11 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_0200029", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0002633" + "obj" : "http://purl.obolibrary.org/obo/HP_0011276" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0200029", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0011276" + "obj" : "http://purl.obolibrary.org/obo/HP_0034784" }, { "sub" : "http://purl.obolibrary.org/obo/HP_0200030", "pred" : "is_a", @@ -484888,11 +485316,11 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000069", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0030223" + "obj" : "http://purl.obolibrary.org/obo/HP_5200108" }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000070", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0030223" + "obj" : "http://purl.obolibrary.org/obo/HP_0031432" }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000072", "pred" : "is_a", @@ -484900,7 +485328,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000073", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0010529" + "obj" : "http://purl.obolibrary.org/obo/HP_4000072" }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000074", "pred" : "is_a", @@ -484925,10 +485353,6 @@ "sub" : "http://purl.obolibrary.org/obo/HP_4000079", "pred" : "is_a", "obj" : "http://purl.obolibrary.org/obo/HP_5200046" - }, { - "sub" : "http://purl.obolibrary.org/obo/HP_4000080", - "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_5200027" }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000081", "pred" : "is_a", @@ -484936,11 +485360,19 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000082", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0012760" + "obj" : "http://purl.obolibrary.org/obo/HP_5200104" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_4000082", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200136" }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000083", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_5200020" + "obj" : "http://purl.obolibrary.org/obo/HP_5200004" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_4000083", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200136" }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000084", "pred" : "is_a", @@ -484968,11 +485400,11 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000092", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0012760" + "obj" : "http://purl.obolibrary.org/obo/HP_5200128" }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000092", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0034434" + "obj" : "http://purl.obolibrary.org/obo/HP_5200136" }, { "sub" : "http://purl.obolibrary.org/obo/HP_4000093", "pred" : "is_a", @@ -485516,7 +485948,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200004", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_5200020" + "obj" : "http://purl.obolibrary.org/obo/HP_0012760" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200005", "pred" : "is_a", @@ -485584,31 +486016,31 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200021", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_5200025" + "obj" : "http://purl.obolibrary.org/obo/HP_0012433" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200022", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_5200025" + "obj" : "http://purl.obolibrary.org/obo/HP_5200021" }, { - "sub" : "http://purl.obolibrary.org/obo/HP_5200024", + "sub" : "http://purl.obolibrary.org/obo/HP_5200022", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + "obj" : "http://purl.obolibrary.org/obo/HP_5200123" }, { - "sub" : "http://purl.obolibrary.org/obo/HP_5200025", + "sub" : "http://purl.obolibrary.org/obo/HP_5200024", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + "obj" : "http://purl.obolibrary.org/obo/HP_0000708" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200026", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + "obj" : "http://purl.obolibrary.org/obo/HP_0012760" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200027", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + "obj" : "http://purl.obolibrary.org/obo/HP_0012760" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200028", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + "obj" : "http://purl.obolibrary.org/obo/HP_5200103" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200029", "pred" : "is_a", @@ -485616,31 +486048,31 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200029", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + "obj" : "http://purl.obolibrary.org/obo/HP_5200123" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200030", "pred" : "is_a", "obj" : "http://purl.obolibrary.org/obo/HP_0034434" }, { - "sub" : "http://purl.obolibrary.org/obo/HP_5200031", + "sub" : "http://purl.obolibrary.org/obo/HP_5200035", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_5200026" + "obj" : "http://purl.obolibrary.org/obo/HP_5200105" }, { - "sub" : "http://purl.obolibrary.org/obo/HP_5200032", + "sub" : "http://purl.obolibrary.org/obo/HP_5200035", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_5200026" + "obj" : "http://purl.obolibrary.org/obo/HP_5200136" }, { - "sub" : "http://purl.obolibrary.org/obo/HP_5200035", + "sub" : "http://purl.obolibrary.org/obo/HP_5200036", "pred" : "is_a", "obj" : "http://purl.obolibrary.org/obo/HP_0012760" }, { - "sub" : "http://purl.obolibrary.org/obo/HP_5200036", + "sub" : "http://purl.obolibrary.org/obo/HP_5200037", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_5200028" + "obj" : "http://purl.obolibrary.org/obo/HP_0012760" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200037", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_5200028" + "obj" : "http://purl.obolibrary.org/obo/HP_5200120" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200038", "pred" : "is_a", @@ -485688,7 +486120,7 @@ }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200052", "pred" : "is_a", - "obj" : "http://purl.obolibrary.org/obo/HP_0000732" + "obj" : "http://purl.obolibrary.org/obo/HP_5200130" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5200053", "pred" : "is_a", @@ -485777,6 +486209,166 @@ "sub" : "http://purl.obolibrary.org/obo/HP_5200073", "pred" : "is_a", "obj" : "http://purl.obolibrary.org/obo/HP_0000722" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200100", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_4000087" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200101", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_4000090" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200102", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0012760" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200102", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_4000075" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200103", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200104", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0000708" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200105", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200104" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200108", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0031432" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200110", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200020" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200111", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200020" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200111", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200024" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200111", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200120" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200113", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200027" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200116", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200021" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200117", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200021" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200118", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200021" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200118", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200120" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200119", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200021" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200120", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200121", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200120" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200122", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200120" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200122", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200128" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200123", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200124", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200123" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200125", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0000718" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200126", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200125" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200127", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200125" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200128", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0012433" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200128", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0034434" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200129", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200130" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200130", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200045" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200131", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200128" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200132", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_4000079" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200132", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200108" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200133", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200108" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200134", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200019" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200134", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200066" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200135", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0012434" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200136", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_0012760" + }, { + "sub" : "http://purl.obolibrary.org/obo/HP_5200137", + "pred" : "is_a", + "obj" : "http://purl.obolibrary.org/obo/HP_5200136" }, { "sub" : "http://purl.obolibrary.org/obo/HP_5201000", "pred" : "is_a", diff --git a/server/src/main/resources/mim2gene_medgen b/server/src/main/resources/mim2gene_medgen index 28329fc0..70b2a259 100644 --- a/server/src/main/resources/mim2gene_medgen +++ b/server/src/main/resources/mim2gene_medgen @@ -351,7 +351,6 @@ 108962 4883 gene - - - 108980 - phenotype - C3152251 - 108985 7003 phenotype GeneMap C1862382 - -108990 4270 gene - - - 109000 - phenotype - C1862381 - 109050 - phenotype - C1862380 - 109090 6741 gene - - - @@ -1947,7 +1946,6 @@ 144120 - phenotype - C1840429 - 144150 - phenotype - C0263420 - 144190 - phenotype - C1840428 - -144200 3848 phenotype GeneMap C1721006 - 144200 3857 phenotype GeneMap C1721006 - 144250 4023 phenotype GeneMap C0020474 - 144300 - phenotype - C1840425 - @@ -3982,7 +3980,7 @@ 188050 2162 phenotype GeneMap C3160733 susceptibility 188050 3026 phenotype GeneMap C3160733 susceptibility 188050 4524 phenotype GeneMap C3160733 susceptibility -188055 2153 phenotype GeneMap C1861171 susceptibility +188055 2153 phenotype GeneMap C1861171 - 188060 7057 gene - - - 188061 7058 gene - - - 188062 7059 gene - - - @@ -4273,7 +4271,6 @@ 193060 7431 gene - - - 193065 7414 gene - - - 193067 2313 gene - - - -193070 - phenotype - C1860423 - 193090 - phenotype - C0342700 - 193100 8074 phenotype GeneMap C0342642 - 193190 7448 gene - - - @@ -4522,7 +4519,7 @@ 208500 - phenotype - C4551856 - 208530 2657 phenotype GeneMap C3178806 - 208540 27031 phenotype GeneMap C3715199 - -208550 30009 phenotype GeneMap C1859648 susceptibility +208550 30009 phenotype GeneMap C1859648 - 208550 5732 phenotype GeneMap C1859648 susceptibility 208600 - phenotype - C1859647 - 208700 - phenotype - C1859646 - @@ -5650,7 +5647,7 @@ 261560 - phenotype - C1849929 - 261575 - phenotype - C1849928 - 261590 - phenotype - C1849927 - -261600 5053 phenotype GeneMap C0031485 nondisease +261600 5053 phenotype GeneMap C0031485 - 261630 5860 phenotype GeneMap C0268465 - 261640 5805 phenotype GeneMap C0878676 - 261650 5106 phenotype GeneMap C1849821 - @@ -5887,7 +5884,7 @@ 271665 4921 phenotype GeneMap C1849011 - 271700 1280 phenotype GeneMap C0796173 - 271900 443 phenotype GeneMap C0206307 - -271930 23636 phenotype GeneMap CN305388 - +271930 23636 phenotype GeneMap C4087174 - 271950 - phenotype - C1848979 - 271960 - phenotype - C0795947 - 271980 7915 phenotype GeneMap C0268631 - @@ -6493,7 +6490,7 @@ 300491 6853 phenotype GeneMap C5774177 - 300492 60343 gene - - - 300493 728712 gene - - - -300495 57502 phenotype GeneMap C1845539 - +300495 57502 phenotype GeneMap C1845539 susceptibility 300496 4204 phenotype GeneMap C1845336 susceptibility 300498 - phenotype - C1845333 - 300499 24140 gene - - - @@ -9254,7 +9251,7 @@ 601855 9138 gene - - - 601856 10520 gene - - - 601858 1047 gene - - - -601859 355 phenotype GeneMap C1328840 susceptibility +601859 355 phenotype GeneMap C1328840 - 601859 356 phenotype GeneMap; GeneReviews C1328840 - 601860 3295 gene - - - 601861 5994 gene - - - @@ -12142,7 +12139,6 @@ 604913 29883 gene - - - 604914 23210 gene - - - 604915 9175 gene - - - -604916 - phenotype - C1858043 - 604917 23019 gene - - - 604918 27445 gene - - - 604919 - phenotype - C1858042 - @@ -14797,7 +14793,7 @@ 607652 27148 gene - - - 607653 57381 gene - - - 607654 3848 phenotype GeneMap C2931123 - -607655 1832 phenotype GeneMap C1843292 - +607655 7286 phenotype GeneMap C1843292 - 607656 - phenotype - C1843291 - 607657 1491 gene - - - 607658 - phenotype - C1843285 - @@ -17969,7 +17965,7 @@ 610849 284076 gene - - - 610850 56949 gene - - - 610851 55435 gene - - - -610852 51314 phenotype GeneMap; GeneReviews C1970506 - +610852 51314 phenotype GeneMap; GeneReviews C1970506 question 610853 25909 gene - - - 610855 22852 gene - - - 610856 91074 gene - - - @@ -23960,7 +23956,8 @@ 616891 100507537 gene - - - 616892 9688 phenotype GeneMap C4225166 - 616893 23165 phenotype GeneMap C4225165 question -616894 1857 phenotype GeneMap; GeneReviews; NCBI curation C4225164 - +616894 1857 phenotype GeneMap C4225164 - +616894 1857 phenotype GeneReviews; NCBI curation C4225164 - 616895 101927152 gene - - - 616896 4976 phenotype GeneMap C4225163 question 616897 202018 phenotype GeneMap C4225162 - @@ -24623,7 +24620,7 @@ 617559 55779 gene - - - 617560 84504 phenotype GeneMap C4479653 - 617561 8726 phenotype GeneMap C4479654 - -617562 84314 phenotype GeneMap C4539714 question +617562 84314 phenotype GeneMap C4539714 - 617563 84314 phenotype GeneMap C4539729 - 617564 4174 phenotype GeneMap C4479655 question 617565 26284 phenotype GeneMap C4479656 - @@ -27453,9 +27450,24 @@ 620397 79000 gene - - - 620398 275 phenotype GeneMap CN371930 - 620399 57143 gene - - - -620400 55505 phenotype GeneMap CN371932 - +620400 55505 phenotype GeneMap CN371932 question 620403 55924 gene - - - 620404 81566 gene - - - 620405 80034 gene - - - 620406 100101490 gene - - - +620407 100073347 gene - - - +620408 442905 gene - - - 620409 26074 phenotype GeneMap CN371965 - +620410 3156 phenotype GeneMap C3888197 nondisease; nondisease; QTL 2 +620411 3848 phenotype GeneMap CN372185 - +620412 100996569 gene - - - +620413 729085 gene - - - +620414 646643 gene - - - +620415 7286 phenotype GeneMap C1843292 - +620416 171546 phenotype GeneMap CN372196 - +620417 171546 phenotype GeneMap CN372197 question +620418 104326052 gene - - - +620419 645121 gene - - - +620420 51751 gene - - - +620421 138009 gene - - - +620422 - phenotype - CN372204 - diff --git a/server/src/main/resources/phenotype.hpoa b/server/src/main/resources/phenotype.hpoa index 23b08122..ff1c44ba 100644 --- a/server/src/main/resources/phenotype.hpoa +++ b/server/src/main/resources/phenotype.hpoa @@ -1,7 +1,7 @@ -#description: "HPO annotations for rare diseases [8083: OMIM; 47: DECIPHER; 4264 ORPHANET]" -#version: 2023-06-06 +#description: "HPO annotations for rare diseases [8111: OMIM; 47: DECIPHER; 4264 ORPHANET]" +#version: 2023-06-17 #tracker: https://github.com/obophenotype/human-phenotype-ontology/issues -#hpo-version: http://purl.obolibrary.org/obo/hp/releases/2023-06-06/hp.json +#hpo-version: http://purl.obolibrary.org/obo/hp/releases/2023-06-17/hp.json database_id disease_name qualifier hpo_id reference evidence onset frequency sex modifier aspect biocuration OMIM:619340 Developmental and epileptic encephalopathy 96 HP:0011097 PMID:31675180 PCS 1/2 P HPO:probinson[2021-06-21] OMIM:619340 Developmental and epileptic encephalopathy 96 HP:0002187 PMID:31675180 PCS 1/1 P HPO:probinson[2021-06-21] @@ -148,6 +148,7 @@ OMIM:612201 Atrial fibrillation, familial, 6 HP:0034307 PMID:18614783 PCS 5/11 OMIM:137580 Gilles de la tourette syndrome HP:0010529 OMIM:137580 IEA P HPO:skoehler[2010-06-18] OMIM:137580 Gilles de la tourette syndrome HP:0002360 OMIM:137580 IEA P HPO:iea[2009-02-17] OMIM:137580 Gilles de la tourette syndrome HP:0000718 OMIM:137580 TAS P HPO:skoehler[2013-02-25] +OMIM:137580 Gilles de la tourette syndrome HP:0000722 OMIM:137580 IEA P HPO:iea[2009-02-17] OMIM:137580 Gilles de la tourette syndrome HP:0100035 OMIM:137580 IEA P HPO:skoehler[2010-06-20] OMIM:137580 Gilles de la tourette syndrome HP:0007018 OMIM:137580 IEA P HPO:iea[2009-02-17] OMIM:137580 Gilles de la tourette syndrome HP:0000006 OMIM:137580 IEA I HPO:iea[2009-02-17] @@ -170,51 +171,52 @@ OMIM:619354 Deafness, cataract, impaired intellectual development, and polyneuro OMIM:619354 Deafness, cataract, impaired intellectual development, and polyneuropathy HP:0000322 PMID:32500975 PCS 2/3 P HPO:probinson[2021-08-18] OMIM:619354 Deafness, cataract, impaired intellectual development, and polyneuropathy HP:0000336 PMID:32500975 PCS 3/3 P HPO:probinson[2021-08-18] OMIM:117650 Cerebrocostomandibular syndrome HP:0002025 PMID:25047197 PCS 1/16 P HPO:skoehler[2017-07-13];HPO:probinson[2023-04-02] -OMIM:117650 Cerebrocostomandibular syndrome HP:0004468 OMIM:117650 TAS P HPO:probinson[2015-12-21] OMIM:117650 Cerebrocostomandibular syndrome HP:0000286 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0001374 OMIM:117650 TAS P HPO:probinson[2009-02-17] -OMIM:117650 Cerebrocostomandibular syndrome HP:0003577 PMID:25047197 PCS 16/16 C HPO:probinson[2023-04-02] -OMIM:117650 Cerebrocostomandibular syndrome HP:0000343 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0005257 OMIM:117650 TAS P HPO:probinson[2009-02-17] -OMIM:117650 Cerebrocostomandibular syndrome HP:0001591 PMID:25047197 PCS 7/16 P HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] -OMIM:117650 Cerebrocostomandibular syndrome HP:0000185 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0000086 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0002020 OMIM:117650 TAS P HPO:skoehler[2017-07-13] OMIM:117650 Cerebrocostomandibular syndrome HP:0000162 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0000085 OMIM:117650 TAS P HPO:skoehler[2017-07-13] -OMIM:117650 Cerebrocostomandibular syndrome HP:0005792 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0410030 PMID:25047197 PCS 1/16 P HPO:probinson[2023-04-02] -OMIM:117650 Cerebrocostomandibular syndrome HP:0001629 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0006593 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0008897 OMIM:117650 TAS P HPO:skoehler[2012-10-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0000878 OMIM:117650 TAS 2/16 P HPO:probinson[2015-02-21];HPO:probinson[2023-04-02] -OMIM:117650 Cerebrocostomandibular syndrome HP:0000218 PMID:25047197 PCS 5/15 P HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] -OMIM:117650 Cerebrocostomandibular syndrome HP:0030282 PMID:25047197 PCS 10/15 P HPO:probinson[2023-04-02] OMIM:117650 Cerebrocostomandibular syndrome HP:0001643 OMIM:117650 TAS P HPO:skoehler[2017-07-13] OMIM:117650 Cerebrocostomandibular syndrome HP:0010290 OMIM:117650 TAS P HPO:skoehler[2010-06-18] -OMIM:117650 Cerebrocostomandibular syndrome HP:0030280 OMIM:117650 IEA P HPO:skoehler[2018-10-08] OMIM:117650 Cerebrocostomandibular syndrome HP:0001249 PMID:25047197 PCS 3/15 P HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] OMIM:117650 Cerebrocostomandibular syndrome HP:0000358 OMIM:117650 TAS P HPO:probinson[2009-02-17] -OMIM:117650 Cerebrocostomandibular syndrome HP:0001545 OMIM:117650 TAS HP:0040283 P HPO:skoehler[2017-07-13] OMIM:117650 Cerebrocostomandibular syndrome HP:0000252 OMIM:117650 TAS P HPO:probinson[2009-02-17] -OMIM:117650 Cerebrocostomandibular syndrome HP:0001561 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0000175 PMID:25047197 PCS 10/15 P HPO:probinson[2023-04-02] OMIM:117650 Cerebrocostomandibular syndrome HP:0000494 PMID:25047197 PCS 3/16 P HPO:probinson[2023-04-02] -OMIM:117650 Cerebrocostomandibular syndrome HP:0000670 PMID:25047197 PCS 1/16 P HPO:probinson[2023-04-02] -OMIM:117650 Cerebrocostomandibular syndrome HP:0002650 PMID:25047197 PCS 5/15 P HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] OMIM:117650 Cerebrocostomandibular syndrome HP:0004695 OMIM:117650 TAS P HPO:probinson[2015-02-21] OMIM:117650 Cerebrocostomandibular syndrome HP:0030300 PMID:25047197 PCS 2/16 P HPO:probinson[2023-04-02] -OMIM:117650 Cerebrocostomandibular syndrome HP:0002132 OMIM:117650 TAS P HPO:probinson[2009-02-17] -OMIM:117650 Cerebrocostomandibular syndrome HP:0000272 OMIM:117650 TAS P HPO:probinson[2009-02-17] -OMIM:117650 Cerebrocostomandibular syndrome HP:0000107 OMIM:117650 TAS P HPO:skoehler[2014-01-28] OMIM:117650 Cerebrocostomandibular syndrome HP:0004209 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:117650 Cerebrocostomandibular syndrome HP:0000405 PMID:25047197 PCS 6/16 P HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] -OMIM:117650 Cerebrocostomandibular syndrome HP:0001631 PMID:25047197 PCS 3/16 P HPO:skoehler[2017-07-13];HPO:probinson[2023-04-02] OMIM:117650 Cerebrocostomandibular syndrome HP:0002987 OMIM:117650 TAS P HPO:probinson[2015-02-21] -OMIM:117650 Cerebrocostomandibular syndrome HP:0000465 PMID:25047197 PCS 1/16 P HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] OMIM:117650 Cerebrocostomandibular syndrome HP:0000201 PMID:25047197 PCS 14/16 P HPO:probinson[2023-04-02] OMIM:117650 Cerebrocostomandibular syndrome HP:0000006 PMID:25047197 PCS I HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] OMIM:117650 Cerebrocostomandibular syndrome HP:0000369 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:117650 Cerebrocostomandibular syndrome HP:0001611 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:117650 Cerebrocostomandibular syndrome HP:0004468 OMIM:117650 TAS P HPO:probinson[2015-12-21] +OMIM:117650 Cerebrocostomandibular syndrome HP:0003577 PMID:25047197 PCS 16/16 C HPO:probinson[2023-04-02] +OMIM:117650 Cerebrocostomandibular syndrome HP:0000343 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:117650 Cerebrocostomandibular syndrome HP:0001591 PMID:25047197 PCS 7/16 P HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] +OMIM:117650 Cerebrocostomandibular syndrome HP:0000185 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:117650 Cerebrocostomandibular syndrome HP:0005792 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:117650 Cerebrocostomandibular syndrome HP:0001629 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:117650 Cerebrocostomandibular syndrome HP:0000218 PMID:25047197 PCS 5/15 P HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] +OMIM:117650 Cerebrocostomandibular syndrome HP:0030282 PMID:25047197 PCS 10/15 P HPO:probinson[2023-04-02] +OMIM:117650 Cerebrocostomandibular syndrome HP:0030280 OMIM:117650 IEA P HPO:skoehler[2018-10-08] +OMIM:117650 Cerebrocostomandibular syndrome HP:0001545 OMIM:117650 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:117650 Cerebrocostomandibular syndrome HP:0001561 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:117650 Cerebrocostomandibular syndrome HP:0000670 PMID:25047197 PCS 1/16 P HPO:probinson[2023-04-02] +OMIM:117650 Cerebrocostomandibular syndrome HP:0002650 PMID:25047197 PCS 5/15 P HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] +OMIM:117650 Cerebrocostomandibular syndrome HP:0002132 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:117650 Cerebrocostomandibular syndrome HP:0000272 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:117650 Cerebrocostomandibular syndrome HP:0000107 OMIM:117650 TAS P HPO:skoehler[2014-01-28] +OMIM:117650 Cerebrocostomandibular syndrome HP:0001631 PMID:25047197 PCS 3/16 P HPO:skoehler[2017-07-13];HPO:probinson[2023-04-02] +OMIM:117650 Cerebrocostomandibular syndrome HP:0000465 PMID:25047197 PCS 1/16 P HPO:probinson[2009-02-17];HPO:probinson[2023-04-02] OMIM:117650 Cerebrocostomandibular syndrome HP:0000347 OMIM:117650 TAS HP:0012828 P HPO:probinson[2012-04-30] OMIM:117650 Cerebrocostomandibular syndrome HP:0002643 OMIM:117650 TAS P HPO:probinson[2009-02-17] OMIM:616067 46,xy sex reversal 9 HP:0003577 PMID:24549039 PCS 2/2 C HPO:probinson[2022-11-27] @@ -669,9 +671,9 @@ OMIM:300425 Autism susceptibility, X-linked 1 HP:0003144 OMIM:300425 IEA HP:00 OMIM:300425 Autism susceptibility, X-linked 1 HP:0011463 PMID:12669065 PCS 1/1 C HPO:iea[2009-02-17];HPO:probinson[2022-09-01] OMIM:300425 Autism susceptibility, X-linked 1 HP:0000717 PMID:12669065 PCS 1/2 P HPO:probinson[2009-02-17];HPO:probinson[2022-09-01] OMIM:300425 Autism susceptibility, X-linked 1 HP:0000723 OMIM:300425 TAS P HPO:skoehler[2013-06-04] +OMIM:300425 Autism susceptibility, X-linked 1 HP:0000733 OMIM:300425 TAS P HPO:probinson[2009-02-17] OMIM:300425 Autism susceptibility, X-linked 1 HP:0000758 OMIM:300425 IEA P HPO:iea[2009-02-17] OMIM:300425 Autism susceptibility, X-linked 1 HP:0001417 PMID:12669065 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-09-01] -OMIM:300425 Autism susceptibility, X-linked 1 HP:0000732 OMIM:300425 IEA P HPO:iea[2009-02-17] OMIM:300425 Autism susceptibility, X-linked 1 HP:0001249 OMIM:300425 IEA P HPO:iea[2009-02-17] OMIM:300425 Autism susceptibility, X-linked 1 HP:0000721 OMIM:300425 IEA P HPO:iea[2009-02-17] OMIM:618089 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities HP:0000343 OMIM:618089 IEA P HPO:skoehler[2018-10-08] @@ -1168,6 +1170,7 @@ OMIM:113620 Branchiooculofacial syndrome HP:0000006 PMID:18423521 PCS I HPO OMIM:113620 Branchiooculofacial syndrome HP:0000204 OMIM:113620 IEA P HPO:skoehler[2010-06-20] OMIM:113620 Branchiooculofacial syndrome HP:0000369 OMIM:113620 TAS P HPO:skoehler[2015-04-05] OMIM:113620 Branchiooculofacial syndrome HP:0005217 OMIM:113620 IEA P HPO:iea[2009-02-17] +OMIM:113620 Branchiooculofacial syndrome HP:0001611 OMIM:113620 IEA P HPO:iea[2009-02-17] OMIM:113620 Branchiooculofacial syndrome HP:0004467 PMID:18423521 PCS 3/6 P HPO:iea[2009-02-17];HPO:probinson[2019-04-19] OMIM:113620 Branchiooculofacial syndrome HP:0000582 OMIM:113620 IEA P HPO:iea[2009-02-17] OMIM:113620 Branchiooculofacial syndrome HP:0010628 PMID:18423521 PCS 1/6 P HPO:probinson[2019-04-19] @@ -1272,6 +1275,7 @@ OMIM:188400 Digeorge syndrome HP:0000565 OMIM:188400 IEA P HPO:skoehler[201 OMIM:188400 Digeorge syndrome HP:0000322 OMIM:188400 IEA P HPO:iea[2009-02-17] OMIM:188400 Digeorge syndrome HP:0000369 OMIM:188400 IEA P HPO:iea[2009-02-17] OMIM:188400 Digeorge syndrome HP:0000006 OMIM:188400 IEA I HPO:iea[2009-02-17] +OMIM:188400 Digeorge syndrome HP:0001611 OMIM:188400 IEA P HPO:iea[2009-02-17] OMIM:188400 Digeorge syndrome HP:0000126 OMIM:188400;PMID:16208694 PCS 16/88 P HPO:probinson[2022-03-17];HPO:iea[2009-02-17] OMIM:188400 Digeorge syndrome HP:0001397 PMID:16208694 PCS 5/78 P HPO:probinson[2022-03-17] OMIM:188400 Digeorge syndrome HP:0005435 OMIM:188400 IEA P HPO:iea[2009-02-17] @@ -2083,8 +2087,9 @@ OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment HP:0001659 PMID:35858628 PCS 1/5 P HPO:probinson[2022-10-02] OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment HP:0001631 PMID:35858628 PCS 1/5 P HPO:probinson[2022-10-02] OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment HP:0001653 PMID:35858628 PCS 1/5 P HPO:probinson[2022-10-02] -OMIM:300633 Hypospadias 1, X-linked HP:0000051 OMIM:300633 TAS P HPO:skoehler[2012-10-16] -OMIM:300633 Hypospadias 1, X-linked HP:0001419 OMIM:300633 TAS I HPO:skoehler[2012-10-16] +OMIM:300633 Hypospadias 1, X-linked HP:0003577 PMID:8097257 PCS 2/2 C HPO:probinson[2023-06-10] +OMIM:300633 Hypospadias 1, X-linked HP:0000051 PMID:8097257 PCS 2/2 P HPO:skoehler[2012-10-16];HPO:probinson[2023-06-10] +OMIM:300633 Hypospadias 1, X-linked HP:0001419 PMID:8097257 PCS I HPO:skoehler[2012-10-16];HPO:probinson[2023-06-10] OMIM:300155 Retinitis pigmentosa 24 HP:0008020 OMIM:300155 IEA male P HPO:skoehler[2013-01-11] OMIM:300155 Retinitis pigmentosa 24 HP:0001417 OMIM:300155 IEA I HPO:skoehler[2013-01-11] OMIM:300155 Retinitis pigmentosa 24 HP:0000510 OMIM:300155 IEA HP:0003621 P HPO:skoehler[2013-01-09] @@ -2456,6 +2461,7 @@ OMIM:619988 Intellectual developmental disorder, autosomal recessive 77 HP:0002 OMIM:619988 Intellectual developmental disorder, autosomal recessive 77 HP:0012169 PMID:34196201 PCS 1/4 P HPO:probinson[2022-08-28] OMIM:619988 Intellectual developmental disorder, autosomal recessive 77 HP:0001249 PMID:34196201;PMID:35359234 PCS 5/5 P HPO:probinson[2022-08-28] OMIM:619988 Intellectual developmental disorder, autosomal recessive 77 HP:0002346 PMID:35359234 PCS 1/1 P HPO:probinson[2022-08-28] +OMIM:619988 Intellectual developmental disorder, autosomal recessive 77 HP:0001611 PMID:35359234 PCS 1/1 P HPO:probinson[2022-08-28] OMIM:608885 Stomatin-deficient cryohydrocytosis with neurologic defects HP:0001276 PMID:22492876 PCS 1/1 P HPO:skoehler[2015-12-30];HPO:probinson[2023-03-08] OMIM:608885 Stomatin-deficient cryohydrocytosis with neurologic defects HP:0004446 PMID:22492876 PCS 1/1 P HPO:probinson[2023-03-08] OMIM:608885 Stomatin-deficient cryohydrocytosis with neurologic defects HP:0002540 OMIM:608885 TAS P HPO:skoehler[2017-07-13] @@ -2524,54 +2530,66 @@ DECIPHER:16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0 DECIPHER:16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0000750 DECIPHER:16 IEA P HPO:skoehler[2013-05-29] DECIPHER:16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0001627 DECIPHER:16 IEA P HPO:skoehler[2013-05-29] DECIPHER:16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0002901 DECIPHER:16 IEA P HPO:skoehler[2013-05-29] +DECIPHER:16 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) HP:0001611 DECIPHER:16 IEA P HPO:skoehler[2013-05-29] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000286 PMID:10590074;PMID:10753603 PCS 3/60 P HPO:probinson[2019-07-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0001894 PMID:7267232 PCS 21/38 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000486 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0004322 PMID:10590074;PMID:10753603 PCS 21/60 P HPO:probinson[2019-07-18];HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0001894 PMID:7267232 PCS 21/38 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000089 PMID:10590074 PCS 2/55 P HPO:probinson[2019-07-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0004322 PMID:10590074;PMID:10753603;PMID:35923690 PCS 26/70 P HPO:probinson[2019-07-18];HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18];HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0003593 OMIM:105650 IEA C HPO:skoehler[2010-06-19] OMIM:105650 Diamond-Blackfan anemia 1 HP:0010446 PMID:10590074 PCS 2/55 P HPO:probinson[2019-07-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0000316 PMID:10753603;OMIM:105650 PCS 11/15 P HPO:probinson[2019-07-18];HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0011463 PMID:35923690 PCS 2/10 C HPO:probinson[2023-06-10] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0011462 PMID:35923690 PCS 2/10 C HPO:probinson[2023-06-10] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0000316 PMID:10753603;PMID:35923690 PCS 2/15 P HPO:probinson[2019-07-18];HPO:skoehler[2010-06-18];HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000878 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0009944 OMIM:105650 IEA P HPO:skoehler[2010-06-20] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000278 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0001249 PMID:10590074 PCS 2/55 P HPO:skoehler[2010-06-20];HPO:probinson[2019-07-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0000252 PMID:10590074 PCS 1/55 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0000494 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0003623 PMID:35923690 PCS 1/10 C HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000175 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0003003 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0002669 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0000494 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0000252 PMID:10590074 PCS 1/55 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0003003 PMID:35923690 PCS 2/10 P HPO:skoehler[2010-06-18];HPO:probinson[2023-06-10] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0002671 PMID:35923690 PCS 1/10 P HPO:probinson[2023-06-10] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0001263 PMID:35923690 PCS 1/10 P HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0009777 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0001896 OMIM:105650 TAS P HPO:probinson[2009-02-17] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0030270 OMIM:105650 TAS P HPO:probinson[2015-01-31] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0002669 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0030270 PMID:35923690 PCS 8/9 P HPO:probinson[2015-01-31];HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0008007 PMID:10590074 PCS 2/55 P HPO:probinson[2019-07-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0009778 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0001896 OMIM:105650 TAS P HPO:probinson[2009-02-17] OMIM:105650 Diamond-Blackfan anemia 1 HP:0008447 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0002863 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0002984 OMIM:105650 TAS HP:0012825 P HPO:probinson[2012-05-05] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0000204 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0009778 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0001972 PMID:35923690 PCS 8/10 P HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000006 OMIM:105650 IEA I HPO:iea[2009-02-17] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0000204 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0002984 OMIM:105650 TAS HP:0012825 P HPO:probinson[2012-05-05] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0002863 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0001199 PMID:10590074 PCS 2/55 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0003577 PMID:35923690 PCS 5/10 C HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000980 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0001629 PMID:10590074 PCS 2/55 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0003298 PMID:35923690 PCS 1/10 P HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0001508 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0001629 PMID:10590074 PCS 2/55 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0008475 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000218 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0000774 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0008437 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0000774 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000457 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0001622 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0004810 OMIM:105650 TAS P HPO:probinson[2009-02-17] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0001622 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0002697 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0001245 PMID:35923690 PCS 7/10 P HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000270 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0000470 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0011904 PMID:35923690 PCS 6/9 P HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0001680 OMIM:105650 IEA P HPO:skoehler[2010-06-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0000470 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000946 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0001635 OMIM:105650 IEA P HPO:iea[2009-02-17] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0005518 PMID:35923690 PCS 8/9 P HPO:probinson[2023-06-10] OMIM:105650 Diamond-Blackfan anemia 1 HP:0001511 OMIM:105650 TAS HP:0012825 P HPO:probinson[2010-06-20] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0000465 OMIM:105650 IEA P HPO:skoehler[2010-06-18] -OMIM:105650 Diamond-Blackfan anemia 1 HP:0001873 PMID:7267232 PCS 12/38 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0001631 PMID:10590074 PCS 2/55 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0001873 PMID:7267232 PCS 12/38 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0000465 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0000347 OMIM:105650 IEA P HPO:skoehler[2010-06-18] OMIM:105650 Diamond-Blackfan anemia 1 HP:0001875 PMID:1918400 PCS HP:0040284 P HPO:skoehler[2010-06-20];HPO:probinson[2019-07-18] OMIM:185050 Storage pool platelet disease HP:0001892 OMIM:185050 IEA P HPO:skoehler[2010-06-20] @@ -3321,6 +3339,7 @@ OMIM:615803 Pontocerebellar hypoplasia, type 10 HP:0012448 OMIM:615803 TAS OMIM:615803 Pontocerebellar hypoplasia, type 10 HP:0002280 PMID:29307788 PCS 2/2 P HPO:probinson[2023-01-30] OMIM:615803 Pontocerebellar hypoplasia, type 10 HP:0000639 PMID:29307788 PCS 1/2 P HPO:skoehler[2014-06-24];HPO:probinson[2023-01-30] OMIM:615803 Pontocerebellar hypoplasia, type 10 HP:0100704 PMID:29307788 PCS 1/2 P HPO:probinson[2023-01-30] +OMIM:615803 Pontocerebellar hypoplasia, type 10 HP:0000817 OMIM:615803 TAS P HPO:skoehler[2014-06-24] OMIM:615803 Pontocerebellar hypoplasia, type 10 HP:0000414 PMID:29307788 PCS 1/2 P HPO:probinson[2023-01-30] OMIM:615803 Pontocerebellar hypoplasia, type 10 HP:0000637 PMID:29307788 PCS 1/2 P HPO:skoehler[2014-06-24];HPO:probinson[2023-01-30] OMIM:615803 Pontocerebellar hypoplasia, type 10 HP:0000219 OMIM:615803 TAS P HPO:skoehler[2014-06-24] @@ -3488,6 +3507,7 @@ OMIM:239850 Hypertrichotic osteochondrodysplasia HP:0000926 OMIM:239850 IEA OMIM:239850 Hypertrichotic osteochondrodysplasia HP:0001537 OMIM:239850 IEA P HPO:probinson[2009-02-17] OMIM:239850 Hypertrichotic osteochondrodysplasia HP:0000527 OMIM:239850 TAS P HPO:probinson[2012-03-02] OMIM:239850 Hypertrichotic osteochondrodysplasia HP:0001698 OMIM:239850 IEA P HPO:probinson[2009-02-17] +OMIM:239850 Hypertrichotic osteochondrodysplasia HP:0008822 OMIM:239850 IEA P HPO:probinson[2009-02-17] OMIM:239850 Hypertrichotic osteochondrodysplasia HP:0000006 OMIM:239850 IEA I HPO:probinson[2009-02-17] OMIM:276821 Ulnar hypoplasia with mental retardation HP:0001762 OMIM:276821 IEA P HPO:iea[2009-02-17] OMIM:276821 Ulnar hypoplasia with mental retardation HP:0002187 OMIM:276821 IEA P HPO:iea[2009-02-17] @@ -3655,6 +3675,7 @@ OMIM:617796 Intellectual developmental disorder, autosomal dominant 52 HP:00023 OMIM:617796 Intellectual developmental disorder, autosomal dominant 52 HP:0000737 PMID:28191889 PCS 2/5 P HPO:probinson[2022-06-03] OMIM:617796 Intellectual developmental disorder, autosomal dominant 52 HP:0000739 PMID:27824329 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-03] OMIM:617796 Intellectual developmental disorder, autosomal dominant 52 HP:0012450 PMID:28394464 PCS 1/1 P HPO:probinson[2022-06-03] +OMIM:617796 Intellectual developmental disorder, autosomal dominant 52 HP:0000733 PMID:27824329 PCS 1/1 P HPO:probinson[2022-06-03] OMIM:617796 Intellectual developmental disorder, autosomal dominant 52 HP:0002714 PMID:28394464 PCS 1/1 P HPO:probinson[2022-06-03] OMIM:617796 Intellectual developmental disorder, autosomal dominant 52 HP:0000218 PMID:28394464 PCS 1/1 P HPO:probinson[2022-06-03] OMIM:617796 Intellectual developmental disorder, autosomal dominant 52 HP:0006610 PMID:23033978 PCS 1/1 P HPO:probinson[2022-06-03] @@ -4090,6 +4111,7 @@ OMIM:601321 Neurofibromatosis-Noonan syndrome HP:0001642 PMID:16380919 PCS 4/2 OMIM:601321 Neurofibromatosis-Noonan syndrome HP:0000358 PMID:16380919 PCS 22/22 P HPO:skoehler[2013-05-03];HP:probinson[2019-01-22] OMIM:601321 Neurofibromatosis-Noonan syndrome HP:0001249 PMID:16380919 PCS 4/22 P HP:probinson[2019-01-22] OMIM:601321 Neurofibromatosis-Noonan syndrome HP:0003006 PMID:16380919 PCS 1/21 P HP:probinson[2019-01-22] +OMIM:601321 Neurofibromatosis-Noonan syndrome HP:0001067 PMID:16380919 PCS 9/22 P HPO:skoehler[2010-06-20];HP:probinson[2019-01-22] OMIM:601321 Neurofibromatosis-Noonan syndrome HP:0000494 PMID:16380919 PCS 18/22 P HPO:skoehler[2013-05-03];HP:probinson[2019-01-22] OMIM:601321 Neurofibromatosis-Noonan syndrome HP:0000750 OMIM:601321 TAS P HPO:skoehler[2013-05-03] OMIM:601321 Neurofibromatosis-Noonan syndrome HP:0002650 PMID:16380919 PCS 9/22 P HPO:skoehler[2013-05-03];HP:probinson[2019-01-22] @@ -4489,6 +4511,7 @@ OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal HP:0004322 PMID:181799 OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal HP:0000490 PMID:18179902 PCS 3/6 P HPO:iea[2010-09-06] OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal HP:0001263 PMID:18179902 PCS 4/6 P HPO:iea[2010-09-06] OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal HP:0000272 PMID:18179902 PCS HP:0040282 P HPO:iea[2010-09-06] +OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal HP:0000708 PMID:18179902 PCS 2/6 P HPO:iea[2010-09-06] OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal HP:0000319 PMID:18179902 PCS 6/6 P HPO:iea[2010-09-06] OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal HP:0030680 PMID:18179902 PCS 2/6 P HPO:iea[2010-09-06] OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal HP:0000307 PMID:18179902 PCS 3/5 P HPO:iea[2010-09-06] @@ -4541,6 +4564,7 @@ OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant HP:0011462 OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant HP:0001317 OMIM:162350 IEA P HPO:skoehler[2018-10-08] OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant HP:0003208 OMIM:162350 IEA P HPO:iea[2009-02-17] OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant HP:0008765 OMIM:162350 TAS P HPO:probinson[2012-06-11] +OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant HP:0003657 PMID:21820099 PCS 1/1 P HPO:skoehler[2010-06-18];HPO:probinson[2022-09-24] OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant HP:0003226 OMIM:162350 IEA P HPO:iea[2009-02-17] OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant HP:0000006 PMID:21820099 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-09-24] OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant HP:0003678 OMIM:162350 IEA C HPO:iea[2009-02-17] @@ -4791,6 +4815,7 @@ OMIM:309548 Mental retardation, X-linked, associated with fragile site fraxe HP OMIM:309548 Mental retardation, X-linked, associated with fragile site fraxe HP:0011341 PMID:8651274 PCS 1/4 P HPO:probinson[2021-10-02] OMIM:309548 Mental retardation, X-linked, associated with fragile site fraxe HP:0012471 PMID:8651274 PCS 1/4 P HPO:probinson[2021-10-02] OMIM:309548 Mental retardation, X-linked, associated with fragile site fraxe HP:0000426 OMIM:309548 TAS P HPO:skoehler[2012-10-17] +OMIM:309548 Mental retardation, X-linked, associated with fragile site fraxe HP:0000722 OMIM:309548 TAS P HPO:skoehler[2012-10-17] OMIM:309548 Mental retardation, X-linked, associated with fragile site fraxe HP:0000713 OMIM:309548 TAS P HPO:skoehler[2012-10-17] OMIM:309548 Mental retardation, X-linked, associated with fragile site fraxe HP:0025116 PMID:8651274 PCS HP:0011461 1/4 P HPO:probinson[2021-10-02] OMIM:309548 Mental retardation, X-linked, associated with fragile site fraxe HP:0000752 OMIM:309548 TAS P HPO:skoehler[2012-10-17] @@ -4917,28 +4942,29 @@ OMIM:613095 Polycystic kidney disease 2 HP:0000952 PMID:35447873 PCS 1/1 P H OMIM:613095 Polycystic kidney disease 2 HP:0000324 OMIM:613095 TAS HP:0040283 P HPO:skoehler[2017-07-13] OMIM:614936 Keratoderma, palmoplantar, punctate type IB HP:0007530 PMID:22972947 PCS P HPO:probinson[2021-07-13] OMIM:614936 Keratoderma, palmoplantar, punctate type IB HP:0000006 PMID:22972947 PCS I HPO:skoehler[2012-11-20];HPO:probinson[2021-07-13] -OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000550 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0001133 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0002069 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] -OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0001583 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] -OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000252 PMID:7977353 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000662 PMID:7977353 PCS 1/5 P HPO:iea[2009-02-17];HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0004322 PMID:7977353 PCS 1/5 P HPO:iea[2009-02-17];HPO:probinson[2022-04-10] -OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0002099 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] -OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0001263 PMID:7977353 PCS 5/5 P HPO:probinson[2022-04-10];HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000580 PMID:7977353 PCS 2/5 P HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0031624 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000518 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] -OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0001419 PMID:16419135 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0011463 PMID:7977353 PCS 5/5 C HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000618 PMID:7977353 PCS 1/5 P HPO:skoehler[2018-10-08];HPO:probinson[2022-04-10] -OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000505 PMID:7977353 PCS 5/5 MALE P HPO:probinson[2009-02-17];HPO:probinson[2022-04-10] -OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000648 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000510 PMID:7977353 PCS HP:0003593 5/5 P HPO:iea[2009-02-17];HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0007787 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0007843 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0005328 PMID:7977353 PCS 2/5 P HPO:probinson[2022-04-10];HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0001249 PMID:7977353 PCS 5/5 P HPO:iea[2009-02-17];HPO:probinson[2022-04-10] +OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000550 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] +OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0001583 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] +OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000252 PMID:7977353 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-04-10] +OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0002099 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] +OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0001263 PMID:7977353 PCS 5/5 P HPO:probinson[2022-04-10];HPO:probinson[2022-04-10] +OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000708 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] +OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0001419 PMID:16419135 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-04-10] +OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000505 PMID:7977353 PCS 5/5 MALE P HPO:probinson[2009-02-17];HPO:probinson[2022-04-10] +OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000648 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000666 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000028 PMID:7977353 PCS 1/5 P HPO:probinson[2022-04-10] OMIM:241530 Hypophosphatemic rickets with hypercalciuria, hereditary HP:0002663 OMIM:241530 IEA P HPO:iea[2009-02-17] @@ -5316,6 +5342,7 @@ OMIM:231000 Gaucher disease, type III HP:0002344 OMIM:231000 IEA P HPO:skoe OMIM:231000 Gaucher disease, type III HP:0004325 OMIM:231000 IEA P HPO:iea[2009-02-17] OMIM:231000 Gaucher disease, type III HP:0000486 OMIM:231000 IEA P HPO:iea[2009-02-17] OMIM:231000 Gaucher disease, type III HP:0002123 OMIM:231000 IEA P HPO:iea[2009-02-17] +OMIM:231000 Gaucher disease, type III HP:0002167 OMIM:231000 TAS P HPO:probinson[2009-02-17] OMIM:231000 Gaucher disease, type III HP:0004322 OMIM:231000 IEA P HPO:iea[2009-02-17] OMIM:231000 Gaucher disease, type III HP:0007817 OMIM:231000 IEA P HPO:iea[2009-02-17] OMIM:231000 Gaucher disease, type III HP:0003581 PMID:33483255 PCS C HPO:iea[2009-02-17];HPO:probinson[2022-04-05] @@ -5596,6 +5623,7 @@ OMIM:614063 N-acetylaspartate deficiency HP:0005484 PMID:19807691 PCS 1/1 P OMIM:614063 N-acetylaspartate deficiency HP:0001290 OMIM:614063 TAS P HPO:skoehler[2017-07-13] OMIM:614063 N-acetylaspartate deficiency HP:0011463 PMID:19807691 PCS 1/1 C HPO:probinson[2023-02-19] OMIM:614063 N-acetylaspartate deficiency HP:0000007 PMID:19807691 PCS I HPO:probinson[2013-08-10];HPO:probinson[2023-02-19] +OMIM:614063 N-acetylaspartate deficiency HP:0000733 OMIM:614063 TAS P HPO:skoehler[2017-07-13] OMIM:614063 N-acetylaspartate deficiency HP:0000736 OMIM:614063 TAS P HPO:skoehler[2017-07-13] OMIM:614063 N-acetylaspartate deficiency HP:0002317 OMIM:614063 TAS P HPO:skoehler[2017-07-13] OMIM:614063 N-acetylaspartate deficiency HP:0025336 PMID:19807691 PCS 1/1 P HPO:probinson[2023-02-19] @@ -5962,6 +5990,7 @@ OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency HP:0000377 OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency HP:0000475 PMID:3066902 PCS 3/5 P HPO:iea[2012-04-24] OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency HP:0009829 PMID:16826533 PCS HP:0040282 P HPO:iea[2009-10-23] OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency HP:0000431 OMIM:276820 TAS P HPO:skoehler[2012-10-17] +OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency HP:0008817 OMIM:276820 TAS P HPO:skoehler[2012-10-17] OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency HP:0000276 PMID:3066902 PCS 2/3 P HPO:iea[2012-04-24] OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency HP:0003982 PMID:16826533 PCS HP:0040281 P HPO:iea[2009-10-23] OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency HP:0004231 OMIM:276820 TAS P HPO:skoehler[2012-10-17] @@ -6074,6 +6103,7 @@ OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, an OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0001508 PMID:26050939 PCS 1/2 P HPO:probinson[2021-06-27] OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0100704 PMID:25823418;PMID:25804403 PCS 2/2 P HPO:skoehler[2017-07-13];HPO:probinson[2021-06-27];HPO:probinson[2021-06-27] OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0006297 PMID:25804403 PCS 1/1 P HPO:probinson[2021-06-27] +OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0000733 PMID:24784135 PCS 2/2 P HPO:probinson[2021-06-27] OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0001347 PMID:24482476 PCS 2/2 P HPO:probinson[2021-06-27] OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0001320 PMID:24482476 PCS 1/2 P HPO:probinson[2021-06-27] OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0000154 PMID:25823418 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2021-06-27] @@ -6092,30 +6122,35 @@ OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, an OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0000748 PMID:26050939 PCS 1/2 P HPO:probinson[2021-06-27] OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0030691 PMID:25804403 PCS 1/1 P HPO:probinson[2021-06-27] OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0001319 PMID:24784135 PCS 2/2 P HPO:skoehler[2014-06-24];HPO:probinson[2021-06-27] -OMIM:256500 Netherton syndrome HP:0001025 OMIM:256500 IEA P HPO:probinson[2009-02-17] +OMIM:256500 Netherton syndrome HP:0003577 PMID:19683336 PCS 9/9 C HPO:probinson[2023-06-07] OMIM:256500 Netherton syndrome HP:0001036 OMIM:256500 IEA P HPO:skoehler[2019-09-07] OMIM:256500 Netherton syndrome HP:0003212 OMIM:256500 TAS P HPO:probinson[2009-02-17] -OMIM:256500 Netherton syndrome HP:0002299 OMIM:256500 TAS P HPO:probinson[2012-03-01] -OMIM:256500 Netherton syndrome HP:0003011 OMIM:256500 IEA P HPO:probinson[2009-02-17] -OMIM:256500 Netherton syndrome HP:0002099 OMIM:256500 IEA P HPO:probinson[2009-02-17] -OMIM:256500 Netherton syndrome HP:0002242 OMIM:256500 TAS P HPO:skoehler[2009-02-17] -OMIM:256500 Netherton syndrome HP:0001263 OMIM:256500 IEA P HPO:probinson[2009-02-17] OMIM:256500 Netherton syndrome HP:0003193 OMIM:256500 TAS P HPO:skoehler[2017-07-13] OMIM:256500 Netherton syndrome HP:0045075 OMIM:256500 IEA P HPO:probinson[2009-02-17] OMIM:256500 Netherton syndrome HP:0032061 OMIM:256500 IEA P HPO:skoehler[2019-04-18] OMIM:256500 Netherton syndrome HP:0100665 OMIM:256500 TAS P HPO:skoehler[2012-10-17] -OMIM:256500 Netherton syndrome HP:0001508 OMIM:256500 IEA P HPO:probinson[2009-02-17] -OMIM:256500 Netherton syndrome HP:0002719 OMIM:256500 IEA P HPO:probinson[2009-02-17] +OMIM:256500 Netherton syndrome HP:0001508 PMID:19683336 PCS 3/9 P HPO:probinson[2009-02-17];HPO:probinson[2023-06-07] OMIM:256500 Netherton syndrome HP:0011100 OMIM:256500 IEA HP:0040284 P HPO:skoehler[2019-09-07] +OMIM:256500 Netherton syndrome HP:0100806 PMID:19683336 PCS 5/9 P HPO:probinson[2023-06-07] +OMIM:256500 Netherton syndrome HP:0004779 OMIM:256500 IEA P HPO:skoehler[2018-10-08] +OMIM:256500 Netherton syndrome HP:0004315 OMIM:256500 IEA P HPO:skoehler[2019-09-07] +OMIM:256500 Netherton syndrome HP:0004798 PMID:19683336 PCS 6/9 P HPO:probinson[2023-06-07] +OMIM:256500 Netherton syndrome HP:0002257 PMID:19683336 PCS 6/9 P HPO:probinson[2023-06-07] +OMIM:256500 Netherton syndrome HP:0001025 OMIM:256500 IEA P HPO:probinson[2009-02-17] +OMIM:256500 Netherton syndrome HP:0002299 OMIM:256500 TAS P HPO:probinson[2012-03-01] +OMIM:256500 Netherton syndrome HP:0002099 OMIM:256500 IEA P HPO:probinson[2009-02-17] +OMIM:256500 Netherton syndrome HP:0001263 OMIM:256500 IEA P HPO:probinson[2009-02-17] +OMIM:256500 Netherton syndrome HP:0001581 PMID:19683336 PCS 9/9 P HPO:probinson[2023-06-07] OMIM:256500 Netherton syndrome HP:0011473 OMIM:256500 TAS P HPO:probinson[2012-09-18] -OMIM:256500 Netherton syndrome HP:0004906 OMIM:256500 IEA P HPO:probinson[2009-02-17] -OMIM:256500 Netherton syndrome HP:0500093 OMIM:256500 IEA P HPO:skoehler[2018-10-08] +OMIM:256500 Netherton syndrome HP:0500093 PMID:19683336 PCS 7/9 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-07] +OMIM:256500 Netherton syndrome HP:0004906 OMIM:256500 IEA 4/9 P HPO:probinson[2009-02-17];HPO:probinson[2023-06-07] OMIM:256500 Netherton syndrome HP:0002209 OMIM:256500 TAS P HPO:probinson[2009-02-17] -OMIM:256500 Netherton syndrome HP:0000007 OMIM:256500 IEA I HPO:probinson[2009-02-17] +OMIM:256500 Netherton syndrome HP:0000007 PMID:10835624 PCS I HPO:probinson[2009-02-17];HPO:probinson[2023-06-07] +OMIM:256500 Netherton syndrome HP:0000964 PMID:19683336 PCS 8/9 P HPO:probinson[2023-06-07] OMIM:256500 Netherton syndrome HP:0001019 OMIM:256500 IEA P HPO:probinson[2009-02-17] -OMIM:256500 Netherton syndrome HP:0007479 OMIM:256500 TAS P HPO:probinson[2009-02-17] -OMIM:256500 Netherton syndrome HP:0004779 OMIM:256500 IEA P HPO:skoehler[2018-10-08] -OMIM:256500 Netherton syndrome HP:0004315 OMIM:256500 IEA P HPO:skoehler[2019-09-07] +OMIM:256500 Netherton syndrome HP:0007479 PMID:19683336 PCS 9/9 P HPO:probinson[2009-02-17];HPO:probinson[2023-06-07] +OMIM:256500 Netherton syndrome HP:0002205 PMID:19683336 PCS 8/9 P HPO:probinson[2023-06-07];HPO:probinson[2023-06-07] +OMIM:618498 Polydactyly, postaxial, type A10 HP:0003577 PMID:30982135 PCS C HPO:probinson[2023-06-10] OMIM:618498 Polydactyly, postaxial, type A10 HP:0005696 PMID:30982135 PCS P HPO:nvasilevsky[2019-09-11] OMIM:618498 Polydactyly, postaxial, type A10 HP:0001162 PMID:30982135 PCS P HPO:nvasilevsky[2019-09-11] OMIM:618498 Polydactyly, postaxial, type A10 HP:0000007 OMIM:618498 IEA I HPO:skoehler[2019-09-07] @@ -6505,6 +6540,7 @@ OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2 HP:0002075 OMI OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2 HP:0002070 PMID:21278747 PCS 1/4 P HPO:probinson[2023-03-22] OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2 HP:0001618 PMID:21278747 PCS 2/4 P HPO:skoehler[2013-10-06] OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2 HP:0000007 PMID:21278747 PCS I HPO:skoehler[2013-10-06];HPO:probinson[2023-03-22] +OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2 HP:0000722 OMIM:615157 TAS P HPO:skoehler[2014-02-25] OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2 HP:0001337 OMIM:615157 TAS P HPO:skoehler[2013-10-06] OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2 HP:0001259 PMID:21278747 PCS 2/4 P HPO:probinson[2023-03-22] OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2 HP:0000764 PMID:21278747 PCS 3/4 P HPO:probinson[2023-03-22];HPO:probinson[2023-03-22] @@ -6630,11 +6666,6 @@ OMIM:614507 Congenital disorder of glycosylation, type IR HP:0012450 PMID:22305 OMIM:614507 Congenital disorder of glycosylation, type IR HP:0000007 PMID:22305527 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2022-06-25] OMIM:614507 Congenital disorder of glycosylation, type IR HP:0005616 PMID:22305527 PCS 1/1 P HPO:probinson[2022-06-25] OMIM:614507 Congenital disorder of glycosylation, type IR HP:0410018 PMID:22305527 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2022-06-25] -OMIM:608890 Waardenburg syndrome, type 2D HP:0001100 PMID:12444107 PCS 2/2 P HPO:skoehler[2010-06-19];HPO:probinson[2022-08-04] -OMIM:608890 Waardenburg syndrome, type 2D HP:0003577 PMID:12444107 PCS 2/2 C HPO:probinson[2022-08-04] -OMIM:608890 Waardenburg syndrome, type 2D HP:0000506 PMID:12444107 PCS 0/2 P HPO:skoehler[2010-06-20];HPO:probinson[2022-08-04] -OMIM:608890 Waardenburg syndrome, type 2D HP:0000007 PMID:12444107 PCS I HPO:skoehler[2010-06-19];HPO:probinson[2022-08-04] -OMIM:608890 Waardenburg syndrome, type 2D HP:0008527 PMID:12444107 PCS 1/1 P HPO:skoehler[2010-06-19];HPO:probinson[2022-08-04] OMIM:619745 Noonan syndrome 14 HP:0000286 PMID:34626534 PCS 2/4 P HPO:probinson[2022-04-05] OMIM:619745 Noonan syndrome 14 HP:0001256 PMID:34626534 PCS 4/4 P HPO:probinson[2022-04-05] OMIM:619745 Noonan syndrome 14 HP:0001377 PMID:34626534 PCS 1/4 P HPO:probinson[2022-04-05] @@ -6705,42 +6736,49 @@ OMIM:617768 Kleefstra syndrome 2 HP:0001357 PMID:29069077 PCS 1/6 P HPO:prob OMIM:617768 Kleefstra syndrome 2 HP:0001510 OMIM:617768 IEA P HPO:skoehler[2019-04-18] OMIM:617768 Kleefstra syndrome 2 HP:0001249 PMID:29069077 PCS 6/6 P HPO:skoehler[2018-10-08];HPO:probinson[2019-04-16] OMIM:617768 Kleefstra syndrome 2 HP:0000006 OMIM:617768 IEA I HPO:skoehler[2019-04-18] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0003577 PMID:23542699 PCS 10/10 C HPO:skoehler[2013-10-06];HPO:probinson[2023-06-08] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000340 OMIM:614261 TAS P HPO:skoehler[2012-10-17] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001792 OMIM:614261 TAS P HPO:skoehler[2012-10-17] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0003577 OMIM:614261 TAS C HPO:skoehler[2013-10-06] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000365 OMIM:614261 TAS P HPO:skoehler[2012-10-17] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0004322 OMIM:614261 TAS HP:0040283 P HPO:skoehler[2012-11-18] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001156 OMIM:614261 TAS P HPO:skoehler[2014-11-26] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001250 OMIM:614261 TAS HP:0003593 P HPO:skoehler[2012-11-21] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0004322 OMIM:614261 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0025104 PMID:23542699 PCS 10/10 P HPO:probinson[2023-06-08] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001250 PMID:23542699 PCS HP:0003593 10/10 P HPO:skoehler[2012-11-21];HPO:probinson[2023-06-08] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001250 OMIM:614261 TAS P HPO:skoehler[2012-11-21] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0003196 OMIM:614261 TAS P HPO:skoehler[2012-10-17] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001252 OMIM:614261 TAS P HPO:skoehler[2014-11-26] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0003196 OMIM:614261 TAS P HPO:skoehler[2012-10-17] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0012448 OMIM:614261 TAS P HPO:skoehler[2013-11-28] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001290 OMIM:614261 TAS P HPO:skoehler[2017-07-13] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0010721 OMIM:614261 TAS P HPO:skoehler[2012-11-21] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001629 OMIM:614261 TAS P HPO:skoehler[2012-10-17] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0012469 PMID:23542699 PCS 4/9 P HPO:probinson[2023-06-08] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001508 OMIM:614261 TAS P HPO:skoehler[2012-10-17] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0009882 OMIM:614261 TAS P HPO:skoehler[2012-10-17] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001629 OMIM:614261 TAS P HPO:skoehler[2012-10-17] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0009882 OMIM:614261;PMID:23542699 PCS 19/20 P HPO:probinson[2023-06-08];HPO:skoehler[2012-10-17] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000316 OMIM:614261 TAS P HPO:skoehler[2012-10-17] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0030084 OMIM:614261 TAS P HPO:skoehler[2014-09-21] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0003429 PMID:23542699 PCS 5/8 P HPO:probinson[2023-06-08] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0025517 PMID:23542699 PCS 6/7 P HPO:probinson[2023-06-08] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001667 OMIM:614261 TAS P HPO:skoehler[2012-10-17] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000253 OMIM:614261 TAS P HPO:skoehler[2012-11-21] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000175 OMIM:614261 TAS P HPO:skoehler[2012-10-17] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000253 PMID:23542699 PCS 10/10 P HPO:skoehler[2012-11-21];HPO:probinson[2023-06-08] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0002059 OMIM:614261 TAS P HPO:skoehler[2012-10-17] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000175 OMIM:614261 TAS P HPO:skoehler[2012-10-17] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000076 OMIM:614261 TAS HP:0040283 P HPO:skoehler[2012-11-18] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0002079 OMIM:614261 TAS P HPO:skoehler[2012-10-17] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001285 OMIM:614261 TAS P HPO:skoehler[2012-10-17] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001263 PMID:23542699 PCS 10/10 P HPO:probinson[2023-06-08] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001285 PMID:23542699 PCS 8/10 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0011344 OMIM:614261 TAS P HPO:skoehler[2012-11-21] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001518 OMIM:614261 TAS P HPO:skoehler[2012-10-17] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0012510 PMID:23542699 PCS 9/9 P HPO:probinson[2023-06-08] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001518 PMID:23542699 PCS 7/10 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000508 OMIM:614261 TAS P HPO:skoehler[2012-10-17] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000327 OMIM:614261 TAS P HPO:skoehler[2012-10-17] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000007 OMIM:614261 TAS I HPO:skoehler[2012-10-17] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000648 OMIM:614261 TAS P HPO:skoehler[2012-10-17] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000007 PMID:23542699 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000648 PMID:23542699 PCS 6/8 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001631 OMIM:614261 TAS P HPO:skoehler[2012-10-17] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000369 OMIM:614261 TAS P HPO:skoehler[2012-10-17] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001336 PMID:23542699 PCS 6/10 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001655 OMIM:614261 TAS P HPO:skoehler[2012-10-17] +OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0009879 PMID:23542699 PCS 9/9 P HPO:probinson[2023-06-08] OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0000445 OMIM:614261 TAS P HPO:skoehler[2012-10-17] -OMIM:614261 Microcephaly-Capillary malformation syndrome HP:0001336 OMIM:614261 TAS P HPO:skoehler[2012-10-17] OMIM:125595 Dermatopathia pigmentosa reticularis HP:0002293 OMIM:125595 TAS P HPO:probinson[2009-02-17] OMIM:125595 Dermatopathia pigmentosa reticularis HP:0000502 OMIM:125595 IEA P HPO:iea[2015-02-01] OMIM:125595 Dermatopathia pigmentosa reticularis HP:0007455 PMID:16960809 PCS P HPO:probinson[2009-02-17];HPO:probinson[2022-09-25] @@ -6870,6 +6908,7 @@ OMIM:618329 Combined oxidative phosphorylation deficiency 37 HP:0032794 PMID:27 OMIM:618329 Combined oxidative phosphorylation deficiency 37 HP:0008151 PMID:27485409 PCS 2/2 P HPO:probinson[2021-09-22] OMIM:618329 Combined oxidative phosphorylation deficiency 37 HP:0001508 PMID:27485409 PCS 2/2 P HPO:skoehler[2019-04-18];HPO:probinson[2021-09-22] OMIM:618329 Combined oxidative phosphorylation deficiency 37 HP:0001408 PMID:27485409 PCS 2/2 P HPO:probinson[2021-09-22] +OMIM:618329 Combined oxidative phosphorylation deficiency 37 HP:0000817 PMID:29618761;PMID:27623147 PCS 3/3 P HPO:skoehler[2019-04-18];HPO:probinson[2021-09-22];HPO:probinson[2021-09-22] OMIM:618329 Combined oxidative phosphorylation deficiency 37 HP:0001943 PMID:29618761;PMID:27623147 PCS 3/3 P HPO:skoehler[2019-04-18];HPO:probinson[2021-09-22];HPO:probinson[2021-09-22] OMIM:618329 Combined oxidative phosphorylation deficiency 37 HP:0002878 PMID:29618761 IEA 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2021-09-22] OMIM:618329 Combined oxidative phosphorylation deficiency 37 HP:0002910 PMID:27485409;PMID:29618761 PCS 3/3 P HPO:skoehler[2019-04-18];HPO:probinson[2021-09-22];HPO:probinson[2021-09-22] @@ -7309,8 +7348,10 @@ OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and dec OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0040082 PMID:29106825 PCS 1/5 P HPO:skoehler[2018-10-08];HPO:probinson[2023-02-10] OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0033725 PMID:29106825 PCS 4/4 P HPO:probinson[2023-02-10] OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0000639 PMID:29106825 PCS 2/3 P HPO:skoehler[2018-10-08];HPO:probinson[2023-02-10] +OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0000817 PMID:29106825 PCS 1/5 P HPO:skoehler[2018-10-08];HPO:probinson[2023-02-10] OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0001845 PMID:29106825 PCS 1/5 P HPO:skoehler[2018-10-08];HPO:probinson[2023-02-10] OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0000954 PMID:29106825 PCS 2/5 P HPO:skoehler[2018-10-08];HPO:probinson[2023-02-10] +OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0000733 PMID:29106825 PCS 2/5 P HPO:skoehler[2018-10-08];HPO:probinson[2023-02-10] OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0002119 PMID:29106825 PCS 5/5 P HPO:probinson[2023-02-10] OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0001249 PMID:29106825 PCS 5/5 P HPO:probinson[2023-02-10] OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0001320 PMID:29106825 PCS 4/4 P HPO:skoehler[2018-10-08];HPO:probinson[2023-02-10] @@ -7375,52 +7416,53 @@ OMIM:265900 Pyle disease HP:0000765 OMIM:265900 IEA P HPO:iea[2009-02-17] OMIM:265900 Pyle disease HP:0000303 OMIM:265900 IEA P HPO:iea[2009-02-17] OMIM:265900 Pyle disease HP:0004349 PMID:27355534 PCS 2/2 P HPO:skoehler[2017-07-13];HPO:probinson[2022-12-03] OMIM:265900 Pyle disease HP:0002753 PMID:27355534 PCS 4/4 P HPO:probinson[2022-12-03];HPO:probinson[2022-12-03] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000066 PMID:31079900 PCS 1/2 P HPO:probinson[2022-12-04];HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000582 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0003577 PMID:31079900 PCS 5/5 C HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001773 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000486 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001156 PMID:31079900 PCS 4/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000540 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001250 PMID:31079900 PCS 3/5 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001274 PMID:31079900 PCS 1/5 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0012745 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001629 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000639 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0008450 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0010055 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0009765 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000878 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0005824 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001601 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001007 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001320 PMID:31079900 PCS 3/5 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000054 PMID:31079900 PCS 1/2 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001385 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000431 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0002650 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0004279 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0002079 PMID:31079900 PCS 3/5 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0002673 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0002373 PMID:31079900 PCS 1/5 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0011968 PMID:31079900 PCS 4/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001263 PMID:31079900 PCS 5/5 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0008081 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0040022 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0004209 PMID:31079900 PCS 4/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000006 PMID:31079900 PCS I HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000248 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000446 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000066 PMID:31079900 PCS 1/2 P HPO:probinson[2022-12-04];HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000582 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0003577 PMID:31079900 PCS 5/5 C HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001156 PMID:31079900 PCS 4/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000540 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001274 PMID:31079900 PCS 1/5 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001629 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000733 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0009765 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0005824 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0001320 PMID:31079900 PCS 3/5 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000431 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0002650 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0004279 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] +OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0002373 PMID:31079900 PCS 1/5 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0005484 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000470 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0003183 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0005280 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0008081 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0011304 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0040022 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000826 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000506 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0200134 PMID:31079900 PCS 1/5 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0004209 PMID:31079900 PCS 4/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0007018 PMID:31079900 PCS 2/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000006 PMID:31079900 PCS I HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000028 PMID:31079900 PCS 1/2 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000248 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] -OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000446 PMID:31079900 PCS 1/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0000347 PMID:31079900 PCS 3/4 P HPO:probinson[2022-12-04] OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities HP:0004227 PMID:31079900 PCS 4/4 P HPO:probinson[2022-12-04] OMIM:620067 Cardiac valvular dysplasia 2 HP:0003577 PMID:31844321 PCS 1/4 C HPO:probinson[2022-10-02] @@ -7744,6 +7786,7 @@ OMIM:300801 Chromosome xp11.23-p11.22 duplication syndrome HP:0002007 PMID:1971 OMIM:300801 Chromosome xp11.23-p11.22 duplication syndrome HP:0000664 PMID:19716111 PCS 2/12 P HPO:probinson[2022-10-02] OMIM:300801 Chromosome xp11.23-p11.22 duplication syndrome HP:0000322 PMID:19716111 PCS 3/12 P HPO:probinson[2022-10-02] OMIM:300801 Chromosome xp11.23-p11.22 duplication syndrome HP:0006304 PMID:19716111 PCS 1/12 P HPO:probinson[2022-10-02] +OMIM:300801 Chromosome xp11.23-p11.22 duplication syndrome HP:0001611 PMID:19716111 PCS 1/12 P HPO:skoehler[2010-06-19];HPO:probinson[2022-10-02] OMIM:601042 Dystonia 9 HP:0003401 OMIM:601042 IEA P HPO:iea[2009-02-17] OMIM:601042 Dystonia 9 HP:0000651 OMIM:601042 IEA P HPO:iea[2009-02-17] OMIM:601042 Dystonia 9 HP:0001266 OMIM:601042 TAS P HPO:skoehler[2009-02-17] @@ -7788,6 +7831,7 @@ OMIM:620098 Developmental delay with variable intellectual disability and dysmor OMIM:620098 Developmental delay with variable intellectual disability and dysmorphic facies HP:0011800 PMID:33077894 PCS 3/16 P HPO:probinson[2023-03-04] OMIM:620098 Developmental delay with variable intellectual disability and dysmorphic facies HP:0009890 PMID:33077894 PCS 6/16 P HPO:probinson[2023-03-04] OMIM:620098 Developmental delay with variable intellectual disability and dysmorphic facies HP:0000729 PMID:33077894 PCS 9/16 P HPO:probinson[2023-03-04] +OMIM:620098 Developmental delay with variable intellectual disability and dysmorphic facies HP:0000722 PMID:33077894 PCS 3/16 P HPO:probinson[2023-03-04] OMIM:620098 Developmental delay with variable intellectual disability and dysmorphic facies HP:0000568 PMID:33077894 PCS 1/16 P HPO:probinson[2023-03-04] OMIM:620098 Developmental delay with variable intellectual disability and dysmorphic facies HP:0000322 PMID:33077894 PCS 3/16 P HPO:probinson[2023-03-04] OMIM:620098 Developmental delay with variable intellectual disability and dysmorphic facies HP:0000325 PMID:33077894 PCS 2/16 P HPO:probinson[2023-03-04];HPO:probinson[2023-03-04] @@ -7822,6 +7866,7 @@ OMIM:600348 Band heterotopia HP:0002360 OMIM:600348 TAS P HPO:skoehler[2017 OMIM:600348 Band heterotopia HP:0002282 PMID:28556411 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2023-02-10] OMIM:600348 Band heterotopia HP:0012736 PMID:28556411 PCS 1/1 P HPO:probinson[2023-02-10] OMIM:600348 Band heterotopia HP:0010864 PMID:24859200 PCS 3/3 P HPO:skoehler[2017-07-13];HPO:probinson[2023-02-10] +OMIM:600348 Band heterotopia HP:0000708 OMIM:600348 TAS P HPO:skoehler[2017-07-13] OMIM:600348 Band heterotopia HP:0000007 PMID:24859200 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-02-10] OMIM:600348 Band heterotopia HP:0000238 PMID:24859200 PCS HP:0003577 1/3 P HPO:skoehler[2018-10-08];HPO:probinson[2023-02-10] OMIM:600348 Band heterotopia HP:0000238 PMID:28556411 PCS 1/1 P HPO:probinson[2023-02-10] @@ -8037,11 +8082,6 @@ OMIM:614473 Arterial calcification, generalized, of infancy, 2 HP:0000007 PMID: OMIM:614473 Arterial calcification, generalized, of infancy, 2 HP:0004912 OMIM:614473 TAS HP:0040283 P HPO:skoehler[2012-11-18] OMIM:614473 Arterial calcification, generalized, of infancy, 2 HP:0001653 PMID:16573612 PCS 1/2 P HPO:probinson[2022-12-15];HPO:probinson[2022-12-15] OMIM:614473 Arterial calcification, generalized, of infancy, 2 HP:0003207 PMID:16573612 PCS 2/2 P HPO:probinson[2022-12-15];HPO:probinson[2022-12-15] -OMIM:226150 ENTEROCOLITIS HP:0002573 OMIM:226150 IEA P HPO:iea[2009-02-17] -OMIM:226150 ENTEROCOLITIS HP:0100279 OMIM:226150 TAS P HPO:skoehler[2012-10-17] -OMIM:226150 ENTEROCOLITIS HP:0004387 OMIM:226150 IEA P HPO:iea[2009-02-17] -OMIM:226150 ENTEROCOLITIS HP:0000007 OMIM:226150 IEA I HPO:iea[2009-02-17] -OMIM:226150 ENTEROCOLITIS HP:0003270 OMIM:226150 IEA P HPO:iea[2009-02-17] OMIM:601718 Retinitis pigmentosa 19 HP:0001133 PMID:9070931 PCS P HPO:skoehler[2015-07-20] OMIM:601718 Retinitis pigmentosa 19 HP:0007737 OMIM:601718 TAS P HPO:skoehler[2013-01-09] OMIM:601718 Retinitis pigmentosa 19 HP:0000662 PMID:9070931 PCS HP:0003621 P HPO:skoehler[2015-07-20] @@ -8086,6 +8126,7 @@ OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28 HP:0002020 PMID OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28 HP:0003593 PMID:25901006 PCS 2/2 C HPO:skoehler[2019-02-15];HPO:probinson[2023-03-10] OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28 HP:0002061 PMID:25901006 PCS 1/2 P HPO:skoehler[2019-02-15];HPO:probinson[2023-03-10] OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28 HP:0001508 PMID:25901006 PCS 1/2 P HPO:skoehler[2019-04-18];HPO:probinson[2023-03-10] +OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28 HP:0000817 PMID:25901006 PCS 1/2 P HPO:skoehler[2019-02-15];HPO:probinson[2023-03-10] OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28 HP:0000514 PMID:25901006 PCS 1/2 P HPO:probinson[2023-03-10] OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28 HP:0003348 PMID:25901006 PCS 1/1 P HPO:skoehler[2019-02-15];HPO:probinson[2023-03-10] OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28 HP:0008936 PMID:25901006 PCS 2/2 P HPO:probinson[2023-03-10] @@ -8486,6 +8527,7 @@ OMIM:245150 Keutel syndrome HP:0000246 OMIM:245150 IEA P HPO:skoehler[2010- OMIM:245150 Keutel syndrome HP:0009778 OMIM:245150 IEA P HPO:iea[2009-02-17] OMIM:245150 Keutel syndrome HP:0008747 OMIM:245150 IEA P HPO:iea[2009-02-17] OMIM:245150 Keutel syndrome HP:0006646 OMIM:245150 IEA P HPO:iea[2009-02-17] +OMIM:245150 Keutel syndrome HP:0001611 OMIM:245150 IEA P HPO:iea[2009-02-17] OMIM:245150 Keutel syndrome HP:0002787 PMID:15810001 PCS P HPO:probinson[2023-03-28] OMIM:208050 Arterial tortuosity syndrome HP:0001650 PMID:17935213 PCS 7/15 P HPO:skoehler[2010-06-18];HPO:probinson[2023-01-23] OMIM:208050 Arterial tortuosity syndrome HP:0000483 PMID:17935213 PCS 5/15 P HPO:probinson[2023-01-23] @@ -8635,6 +8677,7 @@ OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding diffic OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination HP:0000518 PMID:28132692 PCS 5/7 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-01] OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination HP:0001508 PMID:28132692 PCS 3/7 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-01] OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination HP:0000737 PMID:28132692 PCS 7/7 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-01] +OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination HP:0000733 PMID:28132692 PCS 6/7 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-01] OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination HP:0000455 PMID:28132692 PCS 7/7 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-01] OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination HP:0001249 PMID:28132692 PCS 7/7 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-01] OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination HP:0002355 PMID:28132692 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-01] @@ -9298,6 +9341,7 @@ OMIM:607625 Niemann-pick disease, type C2 HP:0001251 OMIM:607625 IEA P HPO: OMIM:607625 Niemann-pick disease, type C2 HP:0002240 PMID:11567215 PCS 5/8 P HPO:iea[2009-02-17];HPO:probinson[2022-09-02] OMIM:607625 Niemann-pick disease, type C2 HP:0002185 OMIM:607625 IEA P HPO:iea[2009-02-17] OMIM:607625 Niemann-pick disease, type C2 HP:0011463 PMID:11567215 PCS 2/8 C HPO:probinson[2022-09-02] +OMIM:607625 Niemann-pick disease, type C2 HP:0000733 OMIM:607625 IEA P HPO:iea[2009-02-17] OMIM:607625 Niemann-pick disease, type C2 HP:0002878 OMIM:607625 TAS P HPO:skoehler[2014-06-24] OMIM:607625 Niemann-pick disease, type C2 HP:0003349 PMID:11567215 PCS 8/8 P HPO:iea[2009-02-17];HPO:probinson[2022-09-02] OMIM:607625 Niemann-pick disease, type C2 HP:0001522 PMID:11567215 PCS 4/8 C HPO:probinson[2022-09-02] @@ -9312,6 +9356,7 @@ OMIM:607625 Niemann-pick disease, type C2 HP:0001561 PMID:11567215 PCS 1/8 P OMIM:607625 Niemann-pick disease, type C2 HP:0003640 OMIM:607625 IEA P HPO:iea[2009-02-17] OMIM:607625 Niemann-pick disease, type C2 HP:0001982 OMIM:607625 IEA P HPO:iea[2009-02-17] OMIM:607625 Niemann-pick disease, type C2 HP:0004333 OMIM:607625 IEA P HPO:iea[2009-02-17] +OMIM:607625 Niemann-pick disease, type C2 HP:0030223 OMIM:607625 TAS P HPO:skoehler[2015-01-20] OMIM:607625 Niemann-pick disease, type C2 HP:0001260 OMIM:607625 IEA P HPO:iea[2009-02-17] OMIM:607625 Niemann-pick disease, type C2 HP:0001263 PMID:11567215 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-09-02] OMIM:607625 Niemann-pick disease, type C2 HP:0002371 OMIM:607625 IEA P HPO:iea[2009-02-17] @@ -9572,6 +9617,7 @@ OMIM:239500 Hyperprolinemia, type I HP:0100753 OMIM:239500 IEA P HPO:skoehl OMIM:239500 Hyperprolinemia, type I HP:0000718 OMIM:239500 IEA P HPO:iea[2009-02-17] OMIM:239500 Hyperprolinemia, type I HP:0000729 PMID:20524212 PCS 3/19 P HP:probinson[2019-03-02] OMIM:239500 Hyperprolinemia, type I HP:0000007 OMIM:239500 IEA I HPO:iea[2009-02-17] +OMIM:239500 Hyperprolinemia, type I HP:0000733 OMIM:239500 IEA P HPO:iea[2009-02-17] OMIM:239500 Hyperprolinemia, type I HP:0008358 PMID:17412540;PMID:20524212 PCS 14/14 P HPO:iea[2009-02-17];HP:probinson[2019-03-02];HP:probinson[2019-03-02] OMIM:239500 Hyperprolinemia, type I HP:0000752 OMIM:239500 IEA P HPO:iea[2009-02-17] OMIM:239500 Hyperprolinemia, type I HP:0003108 PMID:23462603 PCS 2/3 P HPO:iea[2009-02-17];HP:probinson[2019-03-02] @@ -9615,6 +9661,7 @@ OMIM:618049 Parkinsonism-Dystonia, infantile, 2 HP:0000508 PMID:23363473 PCS 1 OMIM:618049 Parkinsonism-Dystonia, infantile, 2 HP:0000007 PMID:23363473 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2022-04-15] OMIM:618049 Parkinsonism-Dystonia, infantile, 2 HP:0025403 PMID:23363473 PCS 1/1 P HPO:skoehler[2019-02-15];HPO:probinson[2022-04-15] OMIM:618049 Parkinsonism-Dystonia, infantile, 2 HP:0001337 PMID:23363473 PCS 1/1 P HPO:skoehler[2019-02-15];HPO:probinson[2022-04-15] +OMIM:618049 Parkinsonism-Dystonia, infantile, 2 HP:0001611 PMID:23363473 PCS 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2022-04-15] OMIM:193235 Vitreoretinopathy, neovascular inflammatory HP:0030667 OMIM:193235 IEA P HPO:skoehler[2015-12-30] OMIM:193235 Vitreoretinopathy, neovascular inflammatory HP:0007902 OMIM:193235 IEA P HPO:iea[2009-02-17] OMIM:193235 Vitreoretinopathy, neovascular inflammatory HP:0000541 OMIM:193235 IEA P HPO:iea[2009-02-17] @@ -9659,6 +9706,7 @@ OMIM:617408 Diamond-Blackfan anemia 16 HP:0000006 PMID:25424902 PCS I HPO:s OMIM:166900 Ovalocytosis, hereditary hemolytic HP:0004445 PMID:5870194 PCS P HPO:lccarmody[2018-10-03] OMIM:166900 Ovalocytosis, hereditary hemolytic HP:0001878 OMIM:166900 IEA P HPO:iea[2009-02-17] OMIM:166900 Ovalocytosis, hereditary hemolytic HP:0000006 OMIM:166900 IEA I HPO:iea[2009-02-17] +OMIM:609636 Alzheimer disease 10 HP:0002167 OMIM:609636 IEA P HPO:iea[2009-02-17] OMIM:609636 Alzheimer disease 10 HP:0002354 OMIM:609636 IEA P HPO:iea[2009-02-17] OMIM:609636 Alzheimer disease 10 HP:0002120 OMIM:609636 IEA P HPO:iea[2009-02-17] OMIM:609636 Alzheimer disease 10 HP:0000726 OMIM:609636 IEA P HPO:iea[2009-02-17] @@ -10591,7 +10639,6 @@ OMIM:301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge ty OMIM:301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type HP:0001417 PMID:26370147 PCS I HPO:probinson[2022-08-07] OMIM:301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type HP:0011003 PMID:26370147 PCS 1/2 P HPO:probinson[2022-08-07] OMIM:301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type HP:0000752 PMID:26370147 PCS 1/2 P HPO:probinson[2022-08-07] -OMIM:301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type HP:0000732 PMID:26370147 PCS 1/2 P HPO:probinson[2022-08-07] OMIM:614840 Hypogonadotropic hypogonadism 11 with or without anosmia HP:0000044 PMID:19079066 IEA P HPO:probinson[2013-02-26] OMIM:614840 Hypogonadotropic hypogonadism 11 with or without anosmia HP:0000054 OMIM:614840 TAS P HPO:skoehler[2013-11-18] OMIM:614840 Hypogonadotropic hypogonadism 11 with or without anosmia HP:0008197 PMID:19079066 IEA P HPO:probinson[2013-02-26] @@ -10753,6 +10800,7 @@ OMIM:126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION HP:0000006 OMIM:1 OMIM:126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION HP:0002588 OMIM:126840 IEA P HPO:iea[2009-02-17] OMIM:126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION HP:0003238 OMIM:126840 IEA P HPO:iea[2009-02-17] OMIM:126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION HP:0500167 OMIM:126840 TAS P HPO:lccarmody[2018-12-28] +OMIM:619141 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 HP:0000708 PMID:27080313 PCS P HPO:probinson[2021-02-19];HPO:probinson[2021-02-19] OMIM:619141 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 HP:0003596 PMID:27080313 PCS 16/19 C HPO:probinson[2022-08-13];HPO:probinson[2021-02-19];HPO:probinson[2021-02-19] OMIM:619141 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 HP:0002145 PMID:27080313 PCS 2/13 P HPO:probinson[2021-02-19] OMIM:619141 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 HP:0001260 PMID:27080313 PCS P HPO:probinson[2021-02-19];HPO:probinson[2021-02-19] @@ -10855,6 +10903,7 @@ OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy HP:0003581 PMID OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy HP:0000790 OMIM:192315 TAS P HPO:skoehler[2012-10-17] OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy HP:0030880 PMID:17660820 PCS 31/73 P HPO:skoehler[2017-07-13];HPO:probinson[2022-08-27] OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy HP:0000093 OMIM:192315 TAS P HPO:skoehler[2012-10-17] +OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy HP:0000708 OMIM:192315 TAS P HPO:skoehler[2012-10-17] OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy HP:0040049 OMIM:192315 TAS P HPO:skoehler[2014-11-26] OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy HP:0000969 OMIM:192315 TAS P HPO:skoehler[2013-01-22] OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy HP:0000529 OMIM:192315 TAS P HPO:skoehler[2013-05-31] @@ -11163,6 +11212,7 @@ OMIM:300624 Fragile X mental retardation syndrome HP:0001250 OMIM:300624 TAS OMIM:300624 Fragile X mental retardation syndrome HP:0000280 OMIM:300624 IEA P HPO:iea[2009-02-17] OMIM:300624 Fragile X mental retardation syndrome HP:0012169 PMID:25875842 PCS 4/13 P HPO:probinson[2022-03-25] OMIM:300624 Fragile X mental retardation syndrome HP:0011463 PMID:29083768 PCS C HPO:probinson[2022-03-25] +OMIM:300624 Fragile X mental retardation syndrome HP:0000817 PMID:25875842 PCS 8/13 P HPO:iea[2009-02-17];HPO:probinson[2022-03-25] OMIM:300624 Fragile X mental retardation syndrome HP:0007165 OMIM:300624 TAS P HPO:probinson[2009-02-17] OMIM:300624 Fragile X mental retardation syndrome HP:0000717 OMIM:300624 IEA P HPO:iea[2009-02-17] OMIM:300624 Fragile X mental retardation syndrome HP:0003829 OMIM:300624 IEA I HPO:iea[2009-02-17] @@ -11284,6 +11334,7 @@ OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders HP:0002360 PMID:35907405 PCS 5/9 P HPO:probinson[2022-11-26] OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders HP:0032388 PMID:35907405 PCS 1/5 P HPO:probinson[2022-11-26] OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders HP:0000729 PMID:35907405 PCS 4/9 P HPO:probinson[2022-11-26] +OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders HP:0000733 PMID:35907405 PCS 2/8 P HPO:probinson[2022-11-26] OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders HP:0025502 PMID:35907405 PCS 4/9 P HPO:probinson[2022-11-26] OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders HP:0025336 PMID:35907405 PCS 4/7 P HPO:probinson[2022-11-26] OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders HP:0007018 PMID:35907405 PCS 4/9 P HPO:probinson[2022-11-26] @@ -11696,6 +11747,7 @@ OMIM:616460 Intellectual developmental disorder, autosomal recessive 50 HP:0001 OMIM:616460 Intellectual developmental disorder, autosomal recessive 50 HP:0000407 PMID:25701870 PCS 1/2 P HPO:skoehler[2015-08-02];HPO:probinson[2023-02-11] OMIM:616460 Intellectual developmental disorder, autosomal recessive 50 HP:0011463 PMID:25701870 PCS 2/2 C HPO:probinson[2023-02-11] OMIM:616460 Intellectual developmental disorder, autosomal recessive 50 HP:0000007 PMID:25701870 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2023-02-11] +DECIPHER:15 Nf1-Microdeletion syndrome HP:0001067 DECIPHER:15 IEA P HPO:skoehler[2013-05-29] DECIPHER:15 Nf1-Microdeletion syndrome HP:0000957 DECIPHER:15 IEA P HPO:skoehler[2013-05-29] DECIPHER:15 Nf1-Microdeletion syndrome HP:0000316 DECIPHER:15 IEA P HPO:skoehler[2013-05-29] DECIPHER:15 Nf1-Microdeletion syndrome HP:0001627 DECIPHER:15 IEA P HPO:skoehler[2013-05-29] @@ -12126,6 +12178,7 @@ OMIM:619790 Oculopharyngodistal myopathy 4 HP:0000006 PMID:35148830 PCS I H OMIM:619790 Oculopharyngodistal myopathy 4 HP:0001337 PMID:35148830 PCS 1/10 P HPO:probinson[2022-05-14] OMIM:619790 Oculopharyngodistal myopathy 4 HP:0000544 PMID:35148830 PCS 8/10 P HPO:probinson[2022-05-14] OMIM:619790 Oculopharyngodistal myopathy 4 HP:0003458 PMID:35148830 PCS 10/10 P HPO:probinson[2022-05-14] +OMIM:619790 Oculopharyngodistal myopathy 4 HP:0001611 PMID:35148830 PCS 1/2 P HPO:probinson[2022-05-14] OMIM:619790 Oculopharyngodistal myopathy 4 HP:0003557 PMID:35148830 PCS 1/2 P HPO:probinson[2022-05-14] OMIM:620111 Charcot-Marie-Tooth disease, demyelinating, type 1J HP:0002355 PMID:32949214 PCS 4/4 P HPO:probinson[2023-03-04];HPO:probinson[2023-03-04] OMIM:620111 Charcot-Marie-Tooth disease, demyelinating, type 1J HP:0003596 PMID:24627108 PCS 1/1 C HPO:probinson[2023-03-04] @@ -12156,6 +12209,7 @@ OMIM:615182 Combined D-2- and L-2-hydroxyglutaric aciduria HP:0002093 OMIM:6151 OMIM:615182 Combined D-2- and L-2-hydroxyglutaric aciduria HP:0012402 PMID:23561848 PCS 9/11 P HPO:probinson[2023-03-16] OMIM:615182 Combined D-2- and L-2-hydroxyglutaric aciduria HP:0100704 OMIM:615182 TAS HP:0040283 P HPO:skoehler[2013-05-03] OMIM:615182 Combined D-2- and L-2-hydroxyglutaric aciduria HP:0000737 OMIM:615182 TAS P HPO:skoehler[2013-05-03] +OMIM:615182 Combined D-2- and L-2-hydroxyglutaric aciduria HP:0000817 OMIM:615182 TAS P HPO:skoehler[2013-05-03] OMIM:615182 Combined D-2- and L-2-hydroxyglutaric aciduria HP:0040144 PMID:23561848 PCS 12/12 P HPO:skoehler[2015-01-27];HPO:probinson[2023-03-16] OMIM:615182 Combined D-2- and L-2-hydroxyglutaric aciduria HP:0000007 PMID:23561848 PCS I HPO:skoehler[2013-05-03];HPO:probinson[2023-03-16] OMIM:615182 Combined D-2- and L-2-hydroxyglutaric aciduria HP:0002119 OMIM:615182 TAS P HPO:skoehler[2013-05-03] @@ -12308,6 +12362,7 @@ OMIM:615828 Vulto-van Silfout-de Vries syndrome HP:0001270 PMID:24726472 PCS 4 OMIM:615828 Vulto-van Silfout-de Vries syndrome HP:0012368 PMID:24726472 PCS 1/4 P HPO:probinson[2023-01-26] OMIM:615828 Vulto-van Silfout-de Vries syndrome HP:0002719 PMID:24726472 PCS 4/4 P HPO:skoehler[2014-07-11];HPO:probinson[2023-01-26] OMIM:615828 Vulto-van Silfout-de Vries syndrome HP:0007021 PMID:24726472 PCS 3/4 P HPO:probinson[2023-01-26] +OMIM:615828 Vulto-van Silfout-de Vries syndrome HP:0000817 PMID:24726472 PCS 3/4 P HPO:skoehler[2014-07-11];HPO:probinson[2023-01-26] OMIM:615828 Vulto-van Silfout-de Vries syndrome HP:0000718 PMID:24726472 PCS 3/4 P HPO:skoehler[2014-07-11];HPO:probinson[2023-01-26] OMIM:615828 Vulto-van Silfout-de Vries syndrome HP:0000717 PMID:24726472 PCS 3/4 P HPO:probinson[2023-01-26] OMIM:615828 Vulto-van Silfout-de Vries syndrome HP:0005709 PMID:24726472 PCS 2/4 P HPO:probinson[2023-01-26] @@ -12482,6 +12537,7 @@ OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristi OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 HP:0002020 OMIM:615419 TAS P HPO:skoehler[2013-11-18] OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 HP:0000639 OMIM:615419 TAS P HPO:skoehler[2013-09-30] OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 HP:0000319 OMIM:615419 TAS P HPO:skoehler[2013-11-18] +OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 HP:0000817 OMIM:615419 TAS P HPO:skoehler[2013-11-18] OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 HP:0011220 PMID:23749988 PCS 2/2 P HPO:skoehler[2013-09-30] OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 HP:0008897 OMIM:615419 TAS HP:0012828 P HPO:skoehler[2013-09-30] OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 HP:0000417 OMIM:615419 TAS P HPO:skoehler[2013-11-18] @@ -13049,15 +13105,16 @@ OMIM:612389 Pontocerebellar hypoplasia, type 2B HP:0000007 PMID:18711368 PCS OMIM:612389 Pontocerebellar hypoplasia, type 2B HP:0000505 PMID:18711368 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2022-09-12] OMIM:612389 Pontocerebellar hypoplasia, type 2B HP:0001257 PMID:23562994 PCS 1/1 P HPO:skoehler[2015-02-22];HPO:probinson[2022-09-12] OMIM:612389 Pontocerebellar hypoplasia, type 2B HP:0009879 PMID:23562994 PCS 1/1 P HPO:skoehler[2015-02-22];HPO:probinson[2022-09-12] -OMIM:600955 Proprotein convertase 1/3 deficiency HP:0000044 OMIM:600955 IEA P HPO:iea[2009-02-17] OMIM:600955 Proprotein convertase 1/3 deficiency HP:0002014 OMIM:600955 IEA P HPO:iea[2009-02-17] -OMIM:600955 Proprotein convertase 1/3 deficiency HP:0008163 OMIM:600955 IEA P HPO:iea[2009-02-17] +OMIM:600955 Proprotein convertase 1/3 deficiency HP:0000044 PMID:9207799 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2023-06-09] +OMIM:600955 Proprotein convertase 1/3 deficiency HP:0008163 PMID:9207799 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2023-06-09] OMIM:600955 Proprotein convertase 1/3 deficiency HP:0002024 OMIM:600955 IEA P HPO:iea[2009-02-17] OMIM:600955 Proprotein convertase 1/3 deficiency HP:0012051 OMIM:600955 TAS P HPO:probinson[2009-02-17] +OMIM:600955 Proprotein convertase 1/3 deficiency HP:0011463 PMID:9207799 PCS 1/1 C HPO:probinson[2023-06-09] OMIM:600955 Proprotein convertase 1/3 deficiency HP:0011473 OMIM:600955 TAS P HPO:skoehler[2013-06-04] -OMIM:600955 Proprotein convertase 1/3 deficiency HP:0000007 OMIM:600955 IEA I HPO:skoehler[2019-04-18] -OMIM:600955 Proprotein convertase 1/3 deficiency HP:0003745 OMIM:600955 IEA I HPO:iea[2009-02-17] -OMIM:600955 Proprotein convertase 1/3 deficiency HP:0001513 OMIM:600955 TAS P HPO:probinson[2009-02-17] +OMIM:600955 Proprotein convertase 1/3 deficiency HP:0000007 PMID:9207799 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2023-06-09] +OMIM:600955 Proprotein convertase 1/3 deficiency HP:0040216 PMID:9207799 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:600955 Proprotein convertase 1/3 deficiency HP:0001513 PMID:9207799 PCS 1/1 P HPO:probinson[2009-02-17];HPO:probinson[2023-06-09] OMIM:600955 Proprotein convertase 1/3 deficiency HP:0000786 OMIM:600955 IEA P HPO:iea[2009-02-17] OMIM:601493 Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction HP:0003581 PMID:14662268 PCS C HPO:probinson[2022-07-04] OMIM:601493 Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction HP:0030682 OMIM:601493 TAS HP:0040283 P HPO:skoehler[2015-12-30] @@ -13749,6 +13806,7 @@ OMIM:616139 Developmental and epileptic encephalopathy 27 HP:0040196 PMID:24272 OMIM:616139 Developmental and epileptic encephalopathy 27 HP:0100660 OMIM:616139 IEA P HPO:skoehler[2018-10-08] OMIM:616139 Developmental and epileptic encephalopathy 27 HP:0012469 PMID:24272827 PCS 2/2 P HPO:probinson[2022-06-18] OMIM:616139 Developmental and epileptic encephalopathy 27 HP:0011097 PMID:24272827 PCS 1/2 P HPO:probinson[2022-06-18] +OMIM:616139 Developmental and epileptic encephalopathy 27 HP:0000817 PMID:24272827 PCS 1/2 P HPO:probinson[2022-06-18] OMIM:616139 Developmental and epileptic encephalopathy 27 HP:0200134 PMID:24272827 PCS P HPO:skoehler[2015-01-04];HPO:probinson[2022-06-18] OMIM:616139 Developmental and epileptic encephalopathy 27 HP:0025336 PMID:24272827 PCS 2/2 P HPO:probinson[2022-06-18] OMIM:616139 Developmental and epileptic encephalopathy 27 HP:0001257 OMIM:616139 IEA P HPO:skoehler[2018-10-08] @@ -15020,6 +15078,7 @@ OMIM:609541 Spastic paraplegia, optic atrophy, and neuropathy HP:0000648 PMID:1 OMIM:609541 Spastic paraplegia, optic atrophy, and neuropathy HP:0001258 PMID:15852396 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-02-15] OMIM:609541 Spastic paraplegia, optic atrophy, and neuropathy HP:0000543 PMID:15852396 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-02-15] OMIM:609541 Spastic paraplegia, optic atrophy, and neuropathy HP:0003438 PMID:15852396 PCS 14/22 P HPO:probinson[2022-02-15] +OMIM:607578 Breath-Holding spells HP:0000708 OMIM:607578 IEA P HPO:iea[2009-02-17] OMIM:607578 Breath-Holding spells HP:0001891 OMIM:607578 IEA P HPO:skoehler[2010-06-20] OMIM:607578 Breath-Holding spells HP:0000980 OMIM:607578 TAS P HPO:iea[2009-02-17] OMIM:607578 Breath-Holding spells HP:0007185 OMIM:607578 IEA P HPO:iea[2009-02-17] @@ -15208,6 +15267,7 @@ OMIM:612954 Myopathy, myofibrillar, 6 HP:0001653 PMID:19085932 PCS 1/3 P HPO OMIM:612954 Myopathy, myofibrillar, 6 HP:0002943 PMID:19085932 PCS 1/3 P HPO:probinson[2023-03-28] OMIM:612954 Myopathy, myofibrillar, 6 HP:0000006 PMID:19085932 PCS I HPO:skoehler[2010-06-19];HPO:probinson[2023-03-28] OMIM:612954 Myopathy, myofibrillar, 6 HP:0003458 PMID:19085932 PCS 1/1 P HPO:skoehler[2010-06-19];HPO:probinson[2023-03-28] +OMIM:612954 Myopathy, myofibrillar, 6 HP:0001611 PMID:19085932 PCS 1/3 P HPO:skoehler[2010-06-19] OMIM:612954 Myopathy, myofibrillar, 6 HP:0003678 OMIM:612954 IEA C HPO:skoehler[2010-06-19] OMIM:620058 Familial apolipoprotein gene cluster deletion syndrome HP:0003233 PMID:2506176 PCS P HPO:probinson[2022-10-03] OMIM:620058 Familial apolipoprotein gene cluster deletion syndrome HP:0003146 PMID:2506176 PCS P HPO:probinson[2022-10-03] @@ -15623,6 +15683,7 @@ OMIM:300143 Mental retardation, X-linked 21 HP:0000678 OMIM:300143 TAS P HP OMIM:300143 Mental retardation, X-linked 21 HP:0000664 PMID:21484992 PCS 3/5 P HPO:probinson[2012-07-24];HPO:probinson[2019-12-10] OMIM:300143 Mental retardation, X-linked 21 HP:0000752 OMIM:300143 TAS P HPO:probinson[2012-07-24] OMIM:300143 Mental retardation, X-linked 21 HP:0000303 PMID:21484992 PCS 4/5 P HPO:probinson[2012-07-24];HPO:probinson[2019-12-10] +OMIM:300143 Mental retardation, X-linked 21 HP:0001611 PMID:21484992 PCS 2/5 P HPO:probinson[2019-12-10] OMIM:150900 LENTIGINES HP:0000639 OMIM:150900 IEA P HPO:iea[2009-02-17] OMIM:150900 LENTIGINES HP:0000006 OMIM:150900 IEA I HPO:iea[2009-02-17] OMIM:150900 LENTIGINES HP:0000951 OMIM:150900 IEA P HPO:iea[2009-02-17] @@ -15734,6 +15795,7 @@ OMIM:618504 Intellectual developmental disorder, autosomal recessive 71 HP:0011 OMIM:618504 Intellectual developmental disorder, autosomal recessive 71 HP:0001629 PMID:31079898 PCS HP:0003577 1/7 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] OMIM:618504 Intellectual developmental disorder, autosomal recessive 71 HP:0034454 PMID:31079898 PCS 1/3 P HPO:probinson[2022-12-18] OMIM:618504 Intellectual developmental disorder, autosomal recessive 71 HP:0000007 PMID:31079898 PCS I HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] +OMIM:618504 Intellectual developmental disorder, autosomal recessive 71 HP:0000733 PMID:31079898 PCS 1/6 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] OMIM:618504 Intellectual developmental disorder, autosomal recessive 71 HP:0000400 PMID:31079898 PCS 2/7 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] OMIM:618504 Intellectual developmental disorder, autosomal recessive 71 HP:0007018 PMID:31079898 PCS 2/7 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] OMIM:618504 Intellectual developmental disorder, autosomal recessive 71 HP:0000256 PMID:31079898 PCS 2/7 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] @@ -15959,6 +16021,7 @@ OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy HP:0012 OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy HP:0001508 PMID:30420557 PCS 3/13 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-25] OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy HP:0000639 PMID:30420557 PCS 3/13 P HPO:skoehler[2019-02-15];HPO:probinson[2022-06-25] OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy HP:0011463 PMID:30420557 PCS 1/13 C HPO:probinson[2022-06-25] +OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy HP:0000817 PMID:30420557 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-06-25] OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy HP:0000514 PMID:30420557 PCS 2/13 P HPO:skoehler[2019-02-15];HPO:probinson[2022-06-25] OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy HP:0007002 PMID:30420557 PCS 5/6 P HPO:probinson[2022-06-25] OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy HP:0001308 PMID:30420557 PCS 4/13 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-25] @@ -16281,6 +16344,7 @@ OMIM:612001 Chromosome 15q13.3 microdeletion syndrome HP:0001250 PMID:19372089 OMIM:612001 Chromosome 15q13.3 microdeletion syndrome HP:0001252 PMID:19372089 PCS 9/18 P HPO:iea[2010-11-18] OMIM:612001 Chromosome 15q13.3 microdeletion syndrome HP:0010864 PMID:19372089 PCS 3/18 P HPO:iea[2010-11-18] OMIM:612001 Chromosome 15q13.3 microdeletion syndrome HP:0008050 PMID:19372089 PCS 7/19 P HPO:iea[2010-11-18] +OMIM:612001 Chromosome 15q13.3 microdeletion syndrome HP:0000708 PMID:19372089 PCS 10/19 P HPO:iea[2010-11-18] OMIM:612001 Chromosome 15q13.3 microdeletion syndrome HP:0003829 PMID:19898479 PCS 50% I HPO:iea[2010-11-18] OMIM:612001 Chromosome 15q13.3 microdeletion syndrome HP:0001328 PMID:19372089 PCS 7/25 P HPO:iea[2010-11-18] OMIM:612001 Chromosome 15q13.3 microdeletion syndrome HP:0001999 PMID:19372089 PCS HP:0040282 P HPO:iea[2010-11-18] @@ -16945,6 +17009,7 @@ OMIM:617435 Lopes-Maciel-Rodan syndrome HP:0001250 OMIM:617435 IEA HP:0040284 OMIM:617435 Lopes-Maciel-Rodan syndrome HP:0002360 PMID:26740508 PCS 1/1 P HPO:probinson[2022-12-20] OMIM:617435 Lopes-Maciel-Rodan syndrome HP:0003593 PMID:26740508 PCS 1/1 C HPO:probinson[2022-12-20] OMIM:617435 Lopes-Maciel-Rodan syndrome HP:0010864 PMID:26740508 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2022-12-20] +OMIM:617435 Lopes-Maciel-Rodan syndrome HP:0000733 PMID:26740508 PCS 1/1 P HPO:probinson[2022-12-20] OMIM:617435 Lopes-Maciel-Rodan syndrome HP:0002317 OMIM:617435 IEA P HPO:skoehler[2018-10-08] OMIM:617435 Lopes-Maciel-Rodan syndrome HP:0000713 PMID:26740508 PCS 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2022-12-20] OMIM:617435 Lopes-Maciel-Rodan syndrome HP:0006855 PMID:26740508 PCS 1/1 P HPO:probinson[2022-12-20] @@ -17835,9 +17900,13 @@ OMIM:260300 Parkinson disease 15, autosomal recessive early-onset HP:0002548 PM OMIM:260300 Parkinson disease 15, autosomal recessive early-onset HP:0003677 OMIM:260300 IEA C HPO:skoehler[2010-06-19] OMIM:260300 Parkinson disease 15, autosomal recessive early-onset HP:0001337 OMIM:260300 IEA P HPO:iea[2009-02-17] OMIM:260300 Parkinson disease 15, autosomal recessive early-onset HP:0001347 PMID:18513678 PCS 10/10 P HPO:iea[2009-02-17];HPO:probinson[2022-11-26] +OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 HP:0000563 PMID:36613650 PCS 1/1 P HPO:probinson[2023-06-10] OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 HP:0000023 PMID:16252232 PCS 11/14 P HPO:probinson[2013-03-26] -OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 HP:0001131 OMIM:609141 TAS P HPO:probinson[2013-03-26] -OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 HP:0012038 OMIM:609141 TAS P HPO:probinson[2013-01-09] +OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 HP:0009918 PMID:36613650 PCS 1/1 P HPO:probinson[2023-06-10] +OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 HP:0001131 PMID:16252232;PMID:36613650 PCS 11/11 P HPO:probinson[2013-03-26];HPO:probinson[2023-06-10];HPO:probinson[2023-06-10] +OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 HP:0003581 PMID:36613650 PCS 1/1 C HPO:probinson[2023-06-10] +OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 HP:0007663 PMID:36613650 PCS 1/1 P HPO:probinson[2023-06-10] +OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 HP:0012038 PMID:16252232 PCS P HPO:probinson[2013-01-09];HPO:probinson[2023-06-10] OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 HP:0000006 PMID:16252232 PCS I HPO:probinson[2013-03-26];HPO:probinson[2020-07-22] OMIM:619352 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset HP:0002650 PMID:33783914 PCS 2/4 P HPO:probinson[2021-07-09] OMIM:619352 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset HP:0001310 PMID:33783914 PCS HP:0011462 1/4 P HPO:probinson[2021-07-09] @@ -17876,6 +17945,7 @@ OMIM:614104 Mental retardation, autosomal dominant 7 HP:0000717 PMID:25920557 P OMIM:614104 Mental retardation, autosomal dominant 7 HP:0001822 OMIM:614104 TAS P HPO:probinson[2013-08-10] OMIM:614104 Mental retardation, autosomal dominant 7 HP:0000414 PMID:23099646 TAS 1/1 P HPO:skoehler[2017-07-13];HP:probinson[2019-02-24] OMIM:614104 Mental retardation, autosomal dominant 7 HP:0008872 PMID:23099646;PMID:25920557 PCS 13/14 P HP:probinson[2019-02-24];HPO:probinson[2022-05-30];HP:probinson[2019-02-24] +OMIM:614104 Mental retardation, autosomal dominant 7 HP:0000733 PMID:25920557 PCS 8/10 P HP:probinson[2019-02-24] OMIM:614104 Mental retardation, autosomal dominant 7 HP:0000219 PMID:25920557 PCS 10/10 P HP:probinson[2019-02-24] OMIM:614104 Mental retardation, autosomal dominant 7 HP:0012171 PMID:23099646 PCS 2/3 P HP:probinson[2019-02-24] OMIM:614104 Mental retardation, autosomal dominant 7 HP:0000752 PMID:23099646;PMID:25167861 PCS 2/3 P HPO:skoehler[2017-07-13];HP:probinson[2019-02-24];HP:probinson[2019-02-24] @@ -18262,30 +18332,44 @@ OMIM:617394 Sclerosing cholangitis, neonatal HP:0002613 PMID:27469900 PCS P OMIM:617394 Sclerosing cholangitis, neonatal HP:0000952 PMID:27469900 PCS 7/7 P HPO:skoehler[2017-07-13];HPO:probinson[2022-06-14] OMIM:617394 Sclerosing cholangitis, neonatal HP:0001744 PMID:27469900 PCS 5/7 P HPO:skoehler[2017-07-13];HPO:probinson[2022-06-14] OMIM:617394 Sclerosing cholangitis, neonatal HP:0003623 PMID:27319779;PMID:27469900 PCS 6/11 C HPO:probinson[2022-06-14] -OMIM:615583 Verheij syndrome HP:0000341 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0001671 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0003577 OMIM:615583 TAS C HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0000343 OMIM:615583 TAS P HPO:skoehler[2014-02-06] +OMIM:615583 Verheij syndrome HP:0000341 PMID:27804958 PCS 3/5 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0003577 PMID:27804958 PCS 6/6 C HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0000343 PMID:27804958 PCS 6/6 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0000321 PMID:27804958 PCS 5/6 P HPO:probinson[2023-06-09] OMIM:615583 Verheij syndrome HP:0000089 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0004322 OMIM:615583 TAS P HPO:skoehler[2014-02-06] +OMIM:615583 Verheij syndrome HP:0004322 OMIM:615583;PMID:27804958 PCS 15/16 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0000463 PMID:27804958 PCS 5/6 P HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0001250 PMID:24140112 PCS 1/1 P HPO:probinson[2023-06-09] OMIM:615583 Verheij syndrome HP:0003196 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0002937 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0000219 OMIM:615583 TAS P HPO:skoehler[2014-02-06] +OMIM:615583 Verheij syndrome HP:0001629 PMID:27804958 PCS 3/6 P HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0002937 PMID:24140112 PCS 1/1 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0011220 PMID:27804958 PCS 6/6 P HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0000219 PMID:27804958 PCS 5/6 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] OMIM:615583 Verheij syndrome HP:0030084 OMIM:615583 TAS P HPO:skoehler[2014-09-21] -OMIM:615583 Verheij syndrome HP:0000252 OMIM:615583 TAS P HPO:skoehler[2014-02-06] +OMIM:615583 Verheij syndrome HP:0000455 PMID:27804958 PCS 6/6 P HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0000278 PMID:24140112 PCS 1/1 P HPO:probinson[2023-06-09] OMIM:615583 Verheij syndrome HP:0002059 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0000431 OMIM:615583 TAS P HPO:skoehler[2014-02-06] +OMIM:615583 Verheij syndrome HP:0000252 PMID:24140112 PCS 1/1 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0000175 PMID:24140112 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0001660 PMID:27804958 PCS 1/6 P HPO:probinson[2023-06-09] OMIM:615583 Verheij syndrome HP:0002650 OMIM:615583 TAS P HPO:skoehler[2014-02-06] +OMIM:615583 Verheij syndrome HP:0000431 PMID:27804958 PCS 4/6 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0001388 PMID:27804958 PCS 5/6 P HPO:probinson[2023-06-09] OMIM:615583 Verheij syndrome HP:0011968 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0001263 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0000470 OMIM:615583 TAS P HPO:skoehler[2014-02-06] +OMIM:615583 Verheij syndrome HP:0000293 PMID:27804958 PCS 4/6 P HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0001263 PMID:24140112;PMID:27804958 PCS 7/7 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0000470 PMID:27804958 PCS 4/6 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0000609 PMID:27804958 PCS 2/6 P HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0001518 PMID:24140112 PCS 1/1 P HPO:probinson[2023-06-09] OMIM:615583 Verheij syndrome HP:0002827 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0002948 OMIM:615583 TAS P HPO:skoehler[2014-02-06] +OMIM:615583 Verheij syndrome HP:0002948 PMID:27804958 PCS 1/6 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] OMIM:615583 Verheij syndrome HP:0000107 OMIM:615583 TAS P HPO:skoehler[2014-04-04] +OMIM:615583 Verheij syndrome HP:0009796 PMID:27804958 PCS 2/6 P HPO:probinson[2023-06-09] OMIM:615583 Verheij syndrome HP:0009237 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0001510 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0000589 OMIM:615583 TAS P HPO:skoehler[2014-02-06] -OMIM:615583 Verheij syndrome HP:0000006 OMIM:615583 TAS I HPO:skoehler[2014-02-06] +OMIM:615583 Verheij syndrome HP:0001511 PMID:27804958 PCS 3/6 P HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0001510 PMID:24140112 PCS 1/1 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0000006 PMID:24140112 PCS I HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] +OMIM:615583 Verheij syndrome HP:0000589 PMID:27804958 PCS 1/6 P HPO:skoehler[2014-02-06];HPO:probinson[2023-06-09] OMIM:615583 Verheij syndrome HP:0000104 OMIM:615583 TAS P HPO:skoehler[2014-02-06] OMIM:614845 Nephronophthisis 15 HP:0001320 PMID:22863007 PCS 1/7 P HPO:skoehler[2012-12-02];HPO:probinson[2023-02-11] OMIM:614845 Nephronophthisis 15 HP:0000639 PMID:22863007 PCS 1/7 P HPO:skoehler[2012-12-02];HPO:probinson[2023-02-11] @@ -18787,6 +18871,7 @@ OMIM:619178 Myofibrillar myopathy 11 HP:0003327 PMID:33217308 PCS 3/10 P HPO OMIM:619178 Myofibrillar myopathy 11 HP:0020203 PMID:31852522 PCS 1/1 P HPO:probinson[2021-04-30] OMIM:619178 Myofibrillar myopathy 11 HP:0003724 PMID:33217308 PCS 1/10 P HPO:probinson[2021-04-30] OMIM:619178 Myofibrillar myopathy 11 HP:0000006 PMID:31852522 PCS I HPO:probinson[2021-04-30];HPO:probinson[2021-05-18] +OMIM:619178 Myofibrillar myopathy 11 HP:0001611 PMID:31852522 PCS 1/1 P HPO:probinson[2021-04-30] OMIM:619178 Myofibrillar myopathy 11 HP:0003557 PMID:33217308;PMID:31852522 PCS 5/9 P HPO:probinson[2021-04-30];HPO:probinson[2021-04-30];HPO:probinson[2021-04-30] OMIM:619178 Myofibrillar myopathy 11 HP:0003700 PMID:33217308 PCS 1/10 P HPO:probinson[2021-04-30] OMIM:619178 Myofibrillar myopathy 11 HP:0003458 PMID:33217308 PCS 5/10 P HPO:probinson[2021-04-30] @@ -18810,28 +18895,29 @@ OMIM:610612 Leber congenital amaurosis 12 HP:0000639 OMIM:610612 IEA P HPO: OMIM:610612 Leber congenital amaurosis 12 HP:0008002 OMIM:610612 IEA P HPO:skoehler[2013-01-10] OMIM:610612 Leber congenital amaurosis 12 HP:0000007 OMIM:610612 TAS I HPO:skoehler[2015-12-30] OMIM:610612 Leber congenital amaurosis 12 HP:0007875 OMIM:610612 IEA HP:0003577 P HPO:skoehler[2013-01-09] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0002342 PMID:29392776 PCS 1/1 P HPO:probinson[2021-03-05] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0001332 PMID:29392776;PMID:32467598 PCS 4/4 P HPO:probinson[2021-03-05] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0001250 PMID:32196122 PCS HP:0003621 2/2 P HPO:probinson[2021-03-05] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0003593 PMID:29392776;PMID:32196122 PCS 3/3 C HPO:probinson[2021-03-05] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0001251 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0100785 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0000718 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0007166 PMID:29392776;PMID:32467598 PCS 3/3 P HPO:probinson[2021-03-05];HPO:probinson[2021-03-05];HPO:probinson[2021-03-05] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0000733 PMID:32196122 PCS 2/2 P HPO:probinson[2021-03-05] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0002119 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0008936 PMID:32467598 PCS 2/3 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0003763 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0000252 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0002353 PMID:29392776 PCS 1/1 P HPO:probinson[2021-03-05] -OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0002342 PMID:29392776 PCS 1/1 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0000750 PMID:29392776;PMID:32196122;PMID:32467598 PCS 5/5 P HPO:probinson[2021-03-05] -OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0001332 PMID:29392776;PMID:32467598 PCS 4/4 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0002376 PMID:32196122;PMID:32467598 PCS 3/5 P HPO:probinson[2021-03-05] -OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0001250 PMID:32196122 PCS HP:0003621 2/2 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0000273 PMID:29392776 PCS 1/1 HP:0025303 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0001263 PMID:32196122;PMID:32467598 PCS 5/5 P HPO:probinson[2021-03-05] -OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0003593 PMID:29392776;PMID:32196122 PCS 3/3 C HPO:probinson[2021-03-05] -OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0001251 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0002072 PMID:29392776;PMID:32467598 PCS 4/4 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0002370 PMID:29392776 PCS 1/1 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0032663 PMID:32467598 PCS 1/3 P HPO:probinson[2021-03-05] -OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0100785 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0000748 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] -OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0000718 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] -OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0007166 PMID:29392776;PMID:32467598 PCS 3/3 P HPO:probinson[2021-03-05];HPO:probinson[2021-03-05];HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0000007 PMID:29392776 PCS I HPO:probinson[2021-03-05];HPO:probinson[2021-03-05] -OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0002119 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0002527 PMID:29392776;PMID:32467598 PCS 2/4 P HPO:probinson[2021-03-05] OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0007359 PMID:29392776 PCS 1/1 P HPO:probinson[2021-03-05] OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset HP:0001397 PMID:25574476 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2023-03-22] @@ -18947,6 +19033,7 @@ OMIM:609425 Chromosome 3q29 deletion syndrome HP:0001508 OMIM:609425 TAS P OMIM:609425 Chromosome 3q29 deletion syndrome HP:0000718 OMIM:609425 TAS P HPO:skoehler[2012-10-17] OMIM:609425 Chromosome 3q29 deletion syndrome HP:0000717 PMID:15918153 PCS P HPO:iea[2009-02-17] OMIM:609425 Chromosome 3q29 deletion syndrome HP:0000739 OMIM:609425 TAS P HPO:skoehler[2012-10-17] +OMIM:609425 Chromosome 3q29 deletion syndrome HP:0000733 PMID:15918153 PCS P HPO:iea[2010-09-13] OMIM:609425 Chromosome 3q29 deletion syndrome HP:0100807 PMID:15918153 PCS P HPO:probinson[2013-04-09] OMIM:609425 Chromosome 3q29 deletion syndrome HP:0000219 OMIM:609425 TAS P HPO:skoehler[2012-10-17] OMIM:609425 Chromosome 3q29 deletion syndrome HP:0003745 OMIM:609425 IEA I HPO:iea[2009-02-17] @@ -19055,20 +19142,28 @@ OMIM:616505 Neuropathy, hereditary motor and sensory, type VIB HP:0001337 OMIM: OMIM:616505 Neuropathy, hereditary motor and sensory, type VIB HP:0001336 OMIM:616505 IEA P HPO:skoehler[2018-10-08] OMIM:185650 Symphalangism, c. s. Lewis type HP:0000006 OMIM:185650 TAS I HPO:probinson[2009-02-17] OMIM:185650 Symphalangism, c. s. Lewis type HP:0009703 OMIM:185650 TAS P HPO:probinson[2009-02-17] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0001396 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0001399 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0002079 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0011968 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0003573 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0002151 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0002240 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0003270 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0008322 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0000007 OMIM:618528 IEA I HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0001522 OMIM:618528 IEA C HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0002910 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0001942 OMIM:618528 IEA P HPO:skoehler[2019-09-07] -OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0000952 OMIM:618528 IEA P HPO:skoehler[2019-09-07] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0031956 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0001396 PMID:27592148 PCS 1/1 P HPO:skoehler[2019-09-07] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0002079 PMID:27592148 PCS 1/1 P HPO:skoehler[2019-09-07] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0000463 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0002153 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0003573 PMID:27592148 PCS 1/1 P HPO:skoehler[2019-09-07] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0002151 PMID:27592148 PCS 1/1 P HPO:skoehler[2019-09-07] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0003593 PMID:27592148 PCS 1/1 C HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0002240 PMID:27592148 PCS 1/1 P HPO:skoehler[2019-09-07] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0003073 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0003270 PMID:27592148 PCS 1/1 P HPO:skoehler[2019-09-07] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0005280 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0033725 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0031964 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0002908 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0009141 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0006581 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0000007 PMID:27592148 PCS I HPO:skoehler[2019-09-07];HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0001942 PMID:27592148 PCS 1/1 P HPO:skoehler[2019-09-07] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0000952 PMID:27592148 PCS 1/1 P HPO:skoehler[2019-09-07] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0004448 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] +OMIM:618528 Mitochondrial DNA depletion syndrome 16 (hepatic type) HP:0001414 PMID:27592148 PCS 1/1 P HPO:probinson[2023-06-09] OMIM:616511 Maturity-onset diabetes of the young, type 14 HP:0000819 PMID:26073777 PCS P HPO:skoehler[2015-08-16];HPO:probinson[2023-03-05] OMIM:616511 Maturity-onset diabetes of the young, type 14 HP:0003596 PMID:26073777 PCS 6/13 C HPO:probinson[2023-03-05];HPO:probinson[2023-03-05] OMIM:616511 Maturity-onset diabetes of the young, type 14 HP:0011462 PMID:26073777 PCS 7/13 C HPO:probinson[2023-03-05];HPO:probinson[2023-03-05] @@ -19156,9 +19251,9 @@ OMIM:608049 Autism, susceptibility to, 3 HP:0000717 OMIM:608049 TAS P HPO:p OMIM:608049 Autism, susceptibility to, 3 HP:0000728 OMIM:608049 IEA P HPO:iea[2009-02-17] OMIM:608049 Autism, susceptibility to, 3 HP:0000723 OMIM:608049 TAS P HPO:skoehler[2013-06-04] OMIM:608049 Autism, susceptibility to, 3 HP:0001426 OMIM:608049 IEA I HPO:iea[2009-02-17] +OMIM:608049 Autism, susceptibility to, 3 HP:0000733 OMIM:608049 TAS P HPO:probinson[2009-02-17] OMIM:608049 Autism, susceptibility to, 3 HP:0000758 OMIM:608049 TAS P HPO:probinson[2012-07-16] OMIM:608049 Autism, susceptibility to, 3 HP:0003745 OMIM:608049 IEA I HPO:iea[2009-02-17] -OMIM:608049 Autism, susceptibility to, 3 HP:0000732 OMIM:608049 IEA P HPO:iea[2009-02-17] OMIM:608049 Autism, susceptibility to, 3 HP:0001249 OMIM:608049 IEA P HPO:iea[2009-02-17] OMIM:608049 Autism, susceptibility to, 3 HP:0000721 OMIM:608049 IEA P HPO:iea[2009-02-17] OMIM:617169 Intellectual developmental disorder, autosomal recessive 74 HP:0002465 PMID:25753423 PCS 2/2 P HPO:skoehler[2017-07-13];HPO:probinson[2022-03-07] @@ -19426,6 +19521,7 @@ OMIM:302803 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasi OMIM:302803 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia HP:0007002 OMIM:302803 TAS P HPO:probinson[2012-03-12] OMIM:302803 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia HP:0003390 OMIM:302803 TAS P HPO:probinson[2012-03-12] OMIM:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy HP:0001155 OMIM:221770 IEA P HPO:iea[2009-02-17] +OMIM:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy HP:0002167 OMIM:221770 IEA P HPO:iea[2009-02-17] OMIM:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy HP:0002186 OMIM:221770 IEA P HPO:iea[2009-02-17] OMIM:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy HP:0002340 OMIM:221770 IEA P HPO:iea[2009-02-17] OMIM:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy HP:0001250 OMIM:221770 IEA P HPO:iea[2009-02-17] @@ -21560,6 +21656,7 @@ OMIM:123450 Cri-Du-Chat syndrome HP:0010743 PMID:16953888 PCS HP:0003621 P H OMIM:123450 Cri-Du-Chat syndrome HP:0000739 PMID:20038906 PCS P HPO:iea[2012-04-24] OMIM:123450 Cri-Du-Chat syndrome HP:0030680 ISBN-13:978-0721606156 PCS P HPO:iea[2012-04-24] OMIM:123450 Cri-Du-Chat syndrome HP:0008872 PMID:16953888 PCS P HPO:iea[2012-04-24] +OMIM:123450 Cri-Du-Chat syndrome HP:0000733 PMID:11869383 PCS P HPO:iea[2012-04-24] OMIM:123450 Cri-Du-Chat syndrome HP:0200046 PMID:1695388 PCS P HPO:iea[2012-04-24] OMIM:123450 Cri-Du-Chat syndrome HP:0000736 PMID:20038906 PCS P HPO:iea[2012-04-24] OMIM:123450 Cri-Du-Chat syndrome HP:0002714 PMID:16953888 PCS P HPO:iea[2012-04-24] @@ -22852,6 +22949,7 @@ OMIM:610954 Pitt-Hopkins syndrome HP:0001795 PMID:17436255 PCS 1/6 P HPO:pro OMIM:610954 Pitt-Hopkins syndrome HP:0002002 PMID:17436254 PCS 4/4 P HPO:probinson[2022-09-11] OMIM:610954 Pitt-Hopkins syndrome HP:0001270 PMID:17436255 PCS P HPO:skoehler[2012-10-17];HPO:probinson[2022-09-11] OMIM:610954 Pitt-Hopkins syndrome HP:0010864 PMID:17436254 PCS 4/4 P HPO:skoehler[2012-10-17];HPO:probinson[2022-09-11] +OMIM:610954 Pitt-Hopkins syndrome HP:0000733 PMID:17436254 PCS 4/4 P HPO:probinson[2022-09-11] OMIM:610954 Pitt-Hopkins syndrome HP:0002119 PMID:17436255 PCS 1/5 P HPO:probinson[2022-09-11] OMIM:610954 Pitt-Hopkins syndrome HP:0030084 OMIM:610954 TAS P HPO:skoehler[2014-09-21] OMIM:610954 Pitt-Hopkins syndrome HP:0001786 PMID:17436255 PCS 1/6 P HPO:skoehler[2012-10-17];HPO:probinson[2022-09-11] @@ -23394,6 +23492,7 @@ OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0001249 PMID:27550220 OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0002751 PMID:27329731 PCS 1/1 P HPO:probinson[2021-02-20] OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0001388 PMID:27329731 PCS P HPO:probinson[2017-06-17] OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0004411 PMID:26571461 PCS 2/3 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-20] +OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0030223 PMID:27329731 PCS 1/1 P HPO:probinson[2017-06-17] OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0001263 PMID:27550220;PMID:27329731 PCS 11/11 P HPO:probinson[2017-06-17];HPO:probinson[2021-02-20] OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0040194 PMID:27329731 PCS P HPO:probinson[2017-06-17] OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0007074 PMID:26571461 PCS 2/3 P HPO:probinson[2021-02-20] @@ -23408,6 +23507,7 @@ OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0001337 PMID:27329731 OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0000446 PMID:26571461 PCS 3/3 P HPO:probinson[2021-02-20] OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0000687 PMID:27550220 PCS 1/3 P HPO:skoehler[2017-07-13];HPO:probinson[2021-09-27] OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0001655 PMID:27550220 PCS HP:0003623 1/3 P HPO:skoehler[2017-07-13];HPO:probinson[2021-09-27] +OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0001611 PMID:26571461 PCS 3/3 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-20] OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0000582 PMID:26571461 PCS 3/3 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-20] OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0002684 PMID:27329731 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2021-09-27] OMIM:300967 Mental retardation, X-linked, syndromic 34 HP:0001270 PMID:27329731 PCS P HPO:probinson[2017-06-17] @@ -23539,6 +23639,7 @@ OMIM:615637 Intellectual developmental disorder, autosomal recessive 41 HP:0011 OMIM:615637 Intellectual developmental disorder, autosomal recessive 41 HP:0011220 PMID:25847626 PCS 2/2 P HPO:probinson[2022-06-16] OMIM:615637 Intellectual developmental disorder, autosomal recessive 41 HP:0000739 PMID:25847626;PMID:24239382 PCS 9/11 P HPO:probinson[2022-06-16];HPO:skoehler[2014-03-24];HPO:probinson[2022-06-16] OMIM:615637 Intellectual developmental disorder, autosomal recessive 41 HP:0000316 PMID:24239382 PCS 2/9 P HPO:probinson[2022-06-16] +OMIM:615637 Intellectual developmental disorder, autosomal recessive 41 HP:0000733 PMID:25847626;PMID:24239382 PCS 6/11 P HPO:skoehler[2014-04-04];HPO:probinson[2022-06-16];HPO:probinson[2022-06-16] OMIM:615637 Intellectual developmental disorder, autosomal recessive 41 HP:0002119 PMID:24239382 PCS 1/9 P HPO:probinson[2022-06-16] OMIM:615637 Intellectual developmental disorder, autosomal recessive 41 HP:0000218 PMID:25847626 PCS 2/2 P HPO:probinson[2022-06-16] OMIM:615637 Intellectual developmental disorder, autosomal recessive 41 HP:0006532 PMID:24239382 PCS 2/9 P HPO:probinson[2022-06-16] @@ -24238,21 +24339,6 @@ OMIM:308240 Lymphoproliferative syndrome, X-linked, 1 HP:0002665 PMID:20926771 OMIM:308240 Lymphoproliferative syndrome, X-linked, 1 HP:0001876 PMID:29649976 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2022-08-07] OMIM:308240 Lymphoproliferative syndrome, X-linked, 1 HP:0002721 PMID:31754776 PCS P HPO:skoehler[2010-06-20];HPO:probinson[2020-10-29] OMIM:308240 Lymphoproliferative syndrome, X-linked, 1 HP:0001875 PMID:20926771 IEA 12/57 P HPO:probinson[2020-10-29] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0004322 OMIM:600399 IEA P HPO:iea[2009-02-17] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0002164 OMIM:600399 IEA P HPO:iea[2009-02-17] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0001263 OMIM:600399 IEA P HPO:iea[2009-02-17] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0001252 OMIM:600399 TAS P HPO:skoehler[2014-11-26] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0000272 OMIM:600399 TAS P HPO:skoehler[2012-10-17] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0004482 OMIM:600399 TAS P HPO:skoehler[2012-10-17] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0001290 OMIM:600399 TAS P HPO:skoehler[2017-07-13] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0011800 OMIM:600399 TAS P HPO:skoehler[2013-11-28] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0005280 OMIM:600399 TAS HP:0003593 P HPO:skoehler[2013-06-12] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0011220 OMIM:600399 TAS P HPO:skoehler[2012-10-17] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0000767 OMIM:600399 IEA P HPO:iea[2009-02-17] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0000256 OMIM:600399 IEA P HPO:iea[2009-02-17] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails NOT HP:0000971 OMIM:600399 TAS P HPO:skoehler[2013-06-03] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0000006 OMIM:600399 IEA I HPO:iea[2009-02-17] -OMIM:600399 Pectus excavatum, macrocephaly, short stature, and dysplastic nails HP:0000336 OMIM:600399 TAS P HPO:skoehler[2012-10-17] OMIM:620049 Nephrotic syndrome, type 26 HP:0003774 PMID:29534211 PCS 1/6 P HPO:probinson[2022-10-02] OMIM:620049 Nephrotic syndrome, type 26 HP:0000100 PMID:29534211 PCS HP:0011463 6/6 P HPO:probinson[2022-10-02] OMIM:620049 Nephrotic syndrome, type 26 HP:0011463 PMID:29534211 PCS 6/6 C HPO:probinson[2022-10-02] @@ -24595,6 +24681,7 @@ OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay H OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay HP:0001290 PMID:23339110 PCS HP:0003623 3/3 P HPO:probinson[2022-11-27] OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay HP:0012736 PMID:23339110 PCS 3/3 P HPO:probinson[2022-11-27] OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay HP:0000639 OMIM:618501 IEA P HPO:skoehler[2019-09-07] +OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay HP:0000817 OMIM:618501;PMID:23339110 PCS 13/13 P HPO:skoehler[2019-09-07];HPO:probinson[2022-11-27] OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay HP:0001999 PMID:23339110 PCS 0/3 P HPO:skoehler[2019-09-07];HPO:probinson[2022-11-27] OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay HP:0000007 PMID:23339110 PCS I HPO:skoehler[2019-09-07];HPO:probinson[2022-11-27] OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay HP:0200134 OMIM:618501 IEA P HPO:skoehler[2019-09-07] @@ -24623,6 +24710,8 @@ OMIM:613454 Rett syndrome, congenital variant HP:0001270 OMIM:613454 TAS P OMIM:613454 Rett syndrome, congenital variant HP:0010864 PMID:21441262 PCS 11/11 P HPO:skoehler[2012-10-17];HPO:probinson[2021-02-07] OMIM:613454 Rett syndrome, congenital variant HP:0100703 OMIM:613454 TAS P HPO:skoehler[2012-10-17] OMIM:613454 Rett syndrome, congenital variant HP:0000737 PMID:21441262 PCS 5/10 P HPO:skoehler[2018-10-08];HPO:probinson[2021-02-07] +OMIM:613454 Rett syndrome, congenital variant HP:0000817 OMIM:613454 TAS P HPO:skoehler[2012-10-17] +OMIM:613454 Rett syndrome, congenital variant HP:0000733 PMID:21441262 PCS 8/11 P HPO:probinson[2021-02-07] OMIM:613454 Rett syndrome, congenital variant HP:0000414 PMID:21441262 PCS P HPO:probinson[2021-02-07] OMIM:613454 Rett syndrome, congenital variant HP:0000219 PMID:21441262 PCS P HPO:probinson[2021-02-07] OMIM:613454 Rett syndrome, congenital variant HP:0000735 OMIM:613454;PMID:21441262 PCS 20/20 P HPO:probinson[2021-02-07];HPO:skoehler[2012-10-17] @@ -25142,6 +25231,7 @@ OMIM:618918 Periventricular nodular heterotopia 9 HP:0001263 PMID:31317654 PCS OMIM:618918 Periventricular nodular heterotopia 9 HP:0032388 PMID:30150678;PMID:29738522 PCS 13/20 P HPO:probinson[2020-08-11] OMIM:618918 Periventricular nodular heterotopia 9 HP:0001182 PMID:31317654 PCS 1/1 P HPO:probinson[2020-08-11] OMIM:618918 Periventricular nodular heterotopia 9 HP:0000729 PMID:30150678 PCS 4/15 P HPO:probinson[2020-08-11] +OMIM:618918 Periventricular nodular heterotopia 9 HP:0000722 PMID:30150678 PCS 2/15 P HPO:probinson[2020-08-11] OMIM:618918 Periventricular nodular heterotopia 9 HP:0004209 PMID:31317654 PCS 1/1 P HPO:probinson[2020-08-11] OMIM:618918 Periventricular nodular heterotopia 9 HP:0000664 PMID:31317654 PCS 1/1 P HPO:probinson[2020-08-11] OMIM:618918 Periventricular nodular heterotopia 9 HP:0007359 PMID:29738522 PCS HP:0011463 2/5 P HPO:probinson[2020-08-11] @@ -25274,6 +25364,7 @@ OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigme OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies HP:0012014 PMID:31833172 PCS 1/2 P HP:probinson[2021-10-31] OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies HP:0006371 PMID:31833172 PCS 1/2 P HP:probinson[2021-10-31] OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies HP:0012450 PMID:31833172 PCS 1/2 P HP:probinson[2021-10-31] +OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies HP:0000733 PMID:31833172 PCS 2/2 P HP:probinson[2021-10-31] OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies HP:0001943 PMID:30595499 PCS HP:0003623 2/5 P HPO:probinson[2021-10-31] OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies HP:0000736 PMID:31833172 PCS 1/2 P HP:probinson[2021-10-31] OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies HP:0000256 PMID:31833172 PCS 1/2 P HP:probinson[2021-10-31] @@ -25451,6 +25542,7 @@ OMIM:619435 Ritscher-Schinzel syndrome 4 HP:0000189 PMID:33894126 PCS 2/6 P OMIM:619435 Ritscher-Schinzel syndrome 4 HP:0001274 PMID:33894126 PCS 8/8 P HPO:probinson[2021-08-21] OMIM:619435 Ritscher-Schinzel syndrome 4 HP:0010864 PMID:33894126 PCS 8/8 P HPO:probinson[2021-08-21] OMIM:619435 Ritscher-Schinzel syndrome 4 HP:0009487 PMID:33894126 PCS 1/6 P HPO:probinson[2021-08-21] +OMIM:619435 Ritscher-Schinzel syndrome 4 HP:0000733 PMID:33894126 PCS 2/8 P HPO:probinson[2021-08-21] OMIM:619435 Ritscher-Schinzel syndrome 4 HP:0001305 PMID:33894126 PCS 1/8 P HPO:probinson[2021-08-21] OMIM:619435 Ritscher-Schinzel syndrome 4 HP:0000218 PMID:33894126 PCS 2/6 P HPO:probinson[2021-08-21];HPO:probinson[2021-08-21] OMIM:619435 Ritscher-Schinzel syndrome 4 HP:0000154 PMID:33894126 PCS 1/6 P HPO:probinson[2021-08-21] @@ -25674,6 +25766,7 @@ OMIM:615541 Mental retardation, autosomal recessive 39 HP:0010864 PMID:23956177 OMIM:615541 Mental retardation, autosomal recessive 39 HP:0000718 PMID:23956177 PCS 3/3 P HPO:skoehler[2013-11-28];HPO:probinson[2022-02-24] OMIM:615541 Mental retardation, autosomal recessive 39 HP:0000448 PMID:23956177 PCS P HPO:skoehler[2013-11-28];HPO:probinson[2022-02-24] OMIM:615541 Mental retardation, autosomal recessive 39 HP:0000007 PMID:21937992 PCS I HPO:skoehler[2013-11-28];HPO:probinson[2022-02-24] +OMIM:615541 Mental retardation, autosomal recessive 39 HP:0000733 PMID:23956177 PCS 3/3 P HPO:skoehler[2013-11-28];HPO:probinson[2022-02-24] OMIM:615541 Mental retardation, autosomal recessive 39 HP:0000689 PMID:23956177 PCS 2/3 P HPO:probinson[2022-02-24] OMIM:615541 Mental retardation, autosomal recessive 39 HP:0001822 PMID:23956177 PCS 1/3 P HPO:probinson[2022-02-24] OMIM:615541 Mental retardation, autosomal recessive 39 HP:0000752 PMID:23956177 PCS 3/3 P HPO:skoehler[2013-11-28];HPO:probinson[2022-02-24] @@ -25952,6 +26045,7 @@ OMIM:618067 Epileptic encephalopathy, early infantile, 66 HP:0001629 PMID:29656 OMIM:618067 Epileptic encephalopathy, early infantile, 66 HP:0001903 PMID:29656858 PCS 4/13 P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-19] OMIM:618067 Epileptic encephalopathy, early infantile, 66 HP:0000316 PMID:29656858 PCS 7/13 P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-19] OMIM:618067 Epileptic encephalopathy, early infantile, 66 HP:0020221 PMID:29656858 PCS 2/13 P HPO:probinson[2023-03-19] +OMIM:618067 Epileptic encephalopathy, early infantile, 66 HP:0000733 PMID:29656858 PCS 6/14 P HPO:probinson[2023-03-19] OMIM:618067 Epileptic encephalopathy, early infantile, 66 HP:0000219 PMID:29656858 PCS 12/13 P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-19] OMIM:618067 Epileptic encephalopathy, early infantile, 66 HP:0002714 PMID:29656858 PCS 9/13 P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-19] OMIM:618067 Epileptic encephalopathy, early infantile, 66 HP:0000675 PMID:29656858 PCS 3/9 P HPO:probinson[2023-03-19] @@ -26058,28 +26152,38 @@ OMIM:612576 Chromosome 17p13.3, telomeric, duplication syndrome HP:0005736 PMID OMIM:612576 Chromosome 17p13.3, telomeric, duplication syndrome HP:0009803 PMID:18493797 PCS 1/9 P HPO:probinson[2022-10-08] OMIM:612576 Chromosome 17p13.3, telomeric, duplication syndrome HP:0000006 PMID:18493797 PCS I HPO:skoehler[2014-01-28];HPO:probinson[2022-10-08] OMIM:612576 Chromosome 17p13.3, telomeric, duplication syndrome HP:0001831 PMID:18493797 PCS 1/9 P HPO:probinson[2022-10-08] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0003577 OMIM:615219 TAS C HPO:skoehler[2013-06-05] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000494 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0003577 PMID:23240096 PCS 2/4 C HPO:skoehler[2013-06-05];HPO:probinson[2023-06-09] OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000486 OMIM:615219 IEA P HPO:skoehler[2018-10-08] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0030048 OMIM:615219 IEA P HPO:skoehler[2018-10-08] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001250 OMIM:615219 TAS P HPO:skoehler[2013-06-05] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001250 PMID:23240096 PCS 2/4 P HPO:skoehler[2013-06-05] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001274 PMID:23240096 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001252 PMID:23240096 PCS 1/4 P HPO:probinson[2023-06-09] OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0002282 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0030718 PMID:23240096 PCS 1/4 P HPO:probinson[2023-06-09] OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001270 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000414 OMIM:615219 IEA P HPO:skoehler[2019-04-18] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000238 PMID:23240096 PCS 4/4 P HPO:probinson[2023-06-09] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000612 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0002119 PMID:23240096 PCS 4/4 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-09] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001104 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000256 PMID:23240096 PCS 2/4 P HPO:skoehler[2015-02-22] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001249 OMIM:615219 TAS P HPO:probinson[2015-02-22] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000358 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000494 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000252 PMID:23240096 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001583 PMID:23240096 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0030048 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0034197 PMID:23240096 PCS 2/4 C HPO:probinson[2023-06-09] OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000407 OMIM:615219 IEA HP:0040284 P HPO:skoehler[2018-10-08] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0003828 OMIM:615219 IEA M HPO:skoehler[2018-10-08] OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001999 OMIM:615219 IEA P HPO:skoehler[2018-10-08] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001339 OMIM:615219 IEA P HPO:skoehler[2018-10-08] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000007 OMIM:615219 TAS I HPO:skoehler[2013-06-05] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000612 OMIM:615219 IEA P HPO:skoehler[2018-10-08] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000414 OMIM:615219 IEA P HPO:skoehler[2019-04-18] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001339 OMIM:615219 IEA 4/4 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-09] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000007 PMID:23240096 PCS I HPO:skoehler[2013-06-05];HPO:probinson[2023-06-09] OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000648 OMIM:615219 IEA HP:0040284 P HPO:skoehler[2018-10-08] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0002119 OMIM:615219 IEA P HPO:skoehler[2018-10-08] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001104 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000505 PMID:23240096 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001137 PMID:23240096 PCS 1/4 P HPO:probinson[2023-06-09] OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0002007 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001631 PMID:23240096 PCS 1/4 P HPO:probinson[2023-06-09] OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001334 OMIM:615219 TAS P HPO:skoehler[2015-02-22] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000256 OMIM:615219 TAS P HPO:skoehler[2015-02-22] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0001249 OMIM:615219 TAS P HPO:probinson[2015-02-22] -OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000358 OMIM:615219 IEA P HPO:skoehler[2018-10-08] +OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0000567 PMID:23240096 PCS 2/4 P HPO:probinson[2023-06-09] OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies HP:0009879 OMIM:615219 TAS P HPO:probinson[2015-02-22] OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation HP:0000343 OMIM:604314 TAS P HPO:probinson[2012-05-01] OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation HP:0000189 OMIM:604314 TAS P HPO:skoehler[2013-08-18] @@ -26454,6 +26558,7 @@ OMIM:602771 Rigid spine muscular dystrophy 1 HP:0002091 PMID:11528383 PCS P OMIM:602771 Rigid spine muscular dystrophy 1 HP:0000007 PMID:11528383 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-09-09] OMIM:602771 Rigid spine muscular dystrophy 1 HP:0002505 PMID:11528383 PCS 1/17 P HPO:probinson[2022-09-09] OMIM:602771 Rigid spine muscular dystrophy 1 HP:0003557 PMID:11528383 PCS 8/8 P HPO:iea[2009-02-17];HPO:probinson[2022-09-09] +OMIM:602771 Rigid spine muscular dystrophy 1 HP:0001611 OMIM:602771 TAS P HPO:probinson[2013-04-12] OMIM:614113 Mental retardation, autosomal dominant 2 HP:0001212 PMID:18060736 PCS 1/2 P HPO:probinson[2022-06-18] OMIM:614113 Mental retardation, autosomal dominant 2 HP:0000750 PMID:18060736 PCS 2/2 P HPO:skoehler[2017-07-13];HPO:probinson[2022-06-18] OMIM:614113 Mental retardation, autosomal dominant 2 HP:0001344 PMID:18060736 PCS 1/2 P HPO:probinson[2022-06-18] @@ -26536,6 +26641,7 @@ OMIM:614852 Microcephaly 9, primary, autosomal recessive HP:0000252 PMID:205982 OMIM:614852 Microcephaly 9, primary, autosomal recessive HP:0001250 PMID:20598275 PCS 0/3 P HPO:probinson[2022-10-08] OMIM:614852 Microcephaly 9, primary, autosomal recessive HP:0000718 PMID:20598275 PCS 3/3 P HPO:skoehler[2012-11-16];HPO:probinson[2022-10-08] OMIM:614852 Microcephaly 9, primary, autosomal recessive HP:0000007 PMID:20598275 PCS I HPO:skoehler[2012-11-16];HPO:probinson[2022-10-08] +OMIM:614852 Microcephaly 9, primary, autosomal recessive HP:0000722 PMID:20598275 PCS 1/3 P HPO:probinson[2022-10-08] OMIM:614852 Microcephaly 9, primary, autosomal recessive HP:0100716 PMID:22775483 PCS 2/2 P HPO:probinson[2022-10-08] OMIM:614852 Microcephaly 9, primary, autosomal recessive HP:0001335 PMID:20598275 PCS HP:0003593 3/3 P HPO:skoehler[2012-11-16];HPO:probinson[2022-10-08] OMIM:614852 Microcephaly 9, primary, autosomal recessive HP:0009879 PMID:20598275;OMIM:614852 PCS 11/11 P HPO:probinson[2022-10-08];HPO:skoehler[2014-11-26] @@ -26651,6 +26757,7 @@ OMIM:300352 Cerebral creatine deficiency syndrome 1 HP:0012448 OMIM:300352 TAS OMIM:300352 Cerebral creatine deficiency syndrome 1 HP:0001270 OMIM:300352 IEA P HPO:iea[2009-02-17] OMIM:300352 Cerebral creatine deficiency syndrome 1 HP:0001508 PMID:27408820 PCS 1/3 P HPO:iea[2009-02-17];HPO:probinson[2022-03-09] OMIM:300352 Cerebral creatine deficiency syndrome 1 HP:0000718 OMIM:300352 IEA P HPO:iea[2009-02-17] +OMIM:300352 Cerebral creatine deficiency syndrome 1 HP:0000733 OMIM:300352 IEA P HPO:iea[2009-02-17] OMIM:300352 Cerebral creatine deficiency syndrome 1 HP:0008872 OMIM:300352 IEA P HPO:iea[2009-02-17] OMIM:300352 Cerebral creatine deficiency syndrome 1 HP:0000337 OMIM:300352 TAS P HPO:skoehler[2013-09-10] OMIM:300352 Cerebral creatine deficiency syndrome 1 HP:0000735 OMIM:300352 IEA P HPO:iea[2009-02-17] @@ -27568,13 +27675,6 @@ OMIM:169610 Pemphigus vulgaris, familial HP:0000006 OMIM:169610 TAS I HPO:s OMIM:169610 Pemphigus vulgaris, familial HP:0200097 OMIM:169610 TAS P HPO:probinson[2015-06-04] OMIM:205000 Amyotonia congenita HP:0003202 OMIM:205000 IEA P HPO:iea[2009-02-17] OMIM:205000 Amyotonia congenita HP:0000007 OMIM:205000 IEA I HPO:iea[2009-02-17] -OMIM:248100 Macrosomia adiposa congenita HP:0001880 OMIM:248100 IEA P HPO:iea[2009-02-17] -OMIM:248100 Macrosomia adiposa congenita HP:0001520 OMIM:248100 TAS P HPO:skoehler[2012-10-17] -OMIM:248100 Macrosomia adiposa congenita HP:0000924 OMIM:248100 IEA P HPO:iea[2009-02-17] -OMIM:248100 Macrosomia adiposa congenita HP:0002591 OMIM:248100 IEA P HPO:iea[2009-02-17] -OMIM:248100 Macrosomia adiposa congenita HP:0000007 OMIM:248100 IEA I HPO:iea[2009-02-17] -OMIM:248100 Macrosomia adiposa congenita HP:0008256 OMIM:248100 IEA P HPO:iea[2009-02-17] -OMIM:248100 Macrosomia adiposa congenita HP:0001513 OMIM:248100 IEA P HPO:skoehler[2010-06-20] OMIM:613495 Immunodeficiency, common variable, 5 HP:0011463 PMID:20038800 PCS 1/1 C HPO:probinson[2021-05-09] OMIM:613495 Immunodeficiency, common variable, 5 HP:0005387 PMID:20038800 PCS 1/1 P HPO:probinson[2021-05-09] OMIM:613495 Immunodeficiency, common variable, 5 HP:0003493 PMID:20038800 PCS 1/1 P HPO:probinson[2021-05-09] @@ -27931,6 +28031,7 @@ OMIM:221820 Leukoencephalopathy, diffuse hereditary, with spheroids HP:0001260 OMIM:221820 Leukoencephalopathy, diffuse hereditary, with spheroids HP:0003581 OMIM:221820 TAS C HPO:probinson[2012-07-18] OMIM:221820 Leukoencephalopathy, diffuse hereditary, with spheroids HP:0002171 OMIM:221820 TAS P HPO:probinson[2012-07-18] OMIM:221820 Leukoencephalopathy, diffuse hereditary, with spheroids HP:0002172 OMIM:221820 TAS P HPO:probinson[2012-07-18] +OMIM:221820 Leukoencephalopathy, diffuse hereditary, with spheroids HP:0000708 OMIM:221820 TAS P HPO:probinson[2012-07-18] OMIM:221820 Leukoencephalopathy, diffuse hereditary, with spheroids HP:0007371 PMID:27423618 PCS 3/3 P HPO:probinson[2022-04-03] OMIM:221820 Leukoencephalopathy, diffuse hereditary, with spheroids HP:0000727 OMIM:221820 TAS P HPO:probinson[2012-07-18] OMIM:221820 Leukoencephalopathy, diffuse hereditary, with spheroids HP:0002529 OMIM:221820 TAS P HPO:skoehler[2012-10-17] @@ -28003,20 +28104,26 @@ OMIM:617022 Lethal congenital contracture syndrome 10 HP:0000347 PMID:26908619 OMIM:617022 Lethal congenital contracture syndrome 10 HP:0000369 PMID:26908619 PCS 1/4 P HPO:probinson[2022-11-24] OMIM:617022 Lethal congenital contracture syndrome 10 HP:0000885 PMID:26908619 PCS 2/4 P HPO:skoehler[2018-10-08];HPO:probinson[2022-11-24] OMIM:617022 Lethal congenital contracture syndrome 10 HP:0003557 PMID:26908619 PCS 1/3 P HPO:probinson[2022-11-24] -OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0008936 OMIM:251280 IEA P HPO:skoehler[2018-10-08] -OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0000253 OMIM:251280 IEA P HPO:skoehler[2019-04-18] -OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0000252 OMIM:251280 IEA P HPO:iea[2009-02-17] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0008936 PMID:27164683 PCS 3/3 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-07] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0000253 PMID:27164683 PCS 3/3 P HPO:skoehler[2019-04-18];HPO:probinson[2023-06-07] OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0002510 OMIM:251280 IEA P HPO:iea[2009-02-17] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0002521 PMID:27164683 PCS 1/3 P HPO:probinson[2023-06-07] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0001332 PMID:27164683 PCS 3/3 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-07] OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0002123 OMIM:251280 IEA HP:0003593 P HPO:iea[2009-02-17] -OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0001332 OMIM:251280 IEA P HPO:skoehler[2018-10-08] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0002266 PMID:27164683 PCS 3/3 P HPO:probinson[2023-06-07] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0001250 PMID:27164683 PCS 3/3 P HPO:probinson[2023-06-07] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0030674 PMID:27164683 PCS 6/6 C HPO:probinson[2023-06-07] OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0002187 OMIM:251280 IEA P HPO:skoehler[2018-10-08] -OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0001263 OMIM:251280 IEA P HPO:iea[2009-02-17] -OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0003593 OMIM:251280 TAS 20/20 C HPO:skoehler[2009-02-17];HPO:iea[2009-02-17] -OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0005484 OMIM:251280 TAS P HPO:skoehler[2012-10-17] -OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0000007 OMIM:251280 IEA I HPO:iea[2009-02-17] -OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0000505 OMIM:251280 IEA P HPO:skoehler[2019-04-18] -OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0001511 OMIM:251280 IEA P HPO:skoehler[2019-04-18] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0001263 PMID:27164683 PCS 3/3 P HPO:iea[2009-02-17];HPO:probinson[2023-06-07] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0003593 OMIM:251280 IEA C HPO:iea[2009-02-17] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0012469 PMID:27164683 PCS 1/3 P HPO:probinson[2023-06-07] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0032792 PMID:27164683 PCS 1/3 P HPO:probinson[2023-06-07] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0011451 PMID:27164683 PCS 6/6 P HPO:probinson[2023-06-07] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0000007 PMID:27164683 PCS I HPO:iea[2009-02-17];HPO:probinson[2023-06-07] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0000505 PMID:27164683 PCS 3/3 P HPO:skoehler[2019-04-18];HPO:probinson[2023-06-07] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0001511 PMID:27164683 PCS 6/6 P HPO:skoehler[2019-04-18];HPO:probinson[2023-06-07] OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0001347 OMIM:251280 IEA P HPO:skoehler[2018-10-08] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0001622 PMID:27164683 PCS 2/6 P HPO:probinson[2023-06-07] OMIM:613244 Colorectal cancer, hereditary nonpolyposis, type 8 HP:0005227 PMID:16951683 PCS 1/10 P HPO:probinson[2022-06-05] OMIM:613244 Colorectal cancer, hereditary nonpolyposis, type 8 HP:0003596 PMID:16951683 PCS 2/4 C HPO:probinson[2022-06-05] OMIM:613244 Colorectal cancer, hereditary nonpolyposis, type 8 HP:0006716 PMID:16951683 PCS P HPO:skoehler[2013-01-10];HPO:probinson[2022-06-05] @@ -28730,6 +28837,7 @@ OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impair OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development HP:0003593 PMID:30239721 PCS 1/1 C HPO:probinson[2022-10-11] OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development HP:0005484 PMID:30239721 PCS 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2022-10-11] OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development HP:0001482 PMID:30239721 PCS 1/1 P HPO:probinson[2022-10-11] +OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development HP:0000817 PMID:30239721 PCS 1/1 P HPO:probinson[2022-10-11] OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development HP:0100716 PMID:30239721 PCS 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2022-10-11] OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development HP:0000713 PMID:30239721 PCS 1/1 P HPO:probinson[2022-10-11] OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development HP:0000006 PMID:30239721 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2022-10-11] @@ -28926,6 +29034,7 @@ OMIM:617787 Mental retardation, autosomal dominant 50 HP:0001250 PMID:29656860 OMIM:617787 Mental retardation, autosomal dominant 50 HP:0011968 PMID:29656860 PCS 8/14 P HPO:probinson[2021-07-07] OMIM:617787 Mental retardation, autosomal dominant 50 HP:0000729 PMID:29656860 PCS 24/27 P HPO:skoehler[2018-10-08];HPO:probinson[2021-07-07] OMIM:617787 Mental retardation, autosomal dominant 50 HP:0001263 PMID:29656860 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2021-07-07] +OMIM:617787 Mental retardation, autosomal dominant 50 HP:0000733 PMID:29656860 PCS 1/32 P HPO:probinson[2021-07-07] OMIM:617787 Mental retardation, autosomal dominant 50 HP:0001270 PMID:29656860 PCS 31/32 P HPO:skoehler[2019-02-22];HPO:probinson[2021-07-07] OMIM:617787 Mental retardation, autosomal dominant 50 HP:0007018 PMID:29656860 PCS 1/28 P HPO:probinson[2021-07-07] OMIM:617787 Mental retardation, autosomal dominant 50 HP:0001249 PMID:29656860 PCS 23/23 P HPO:skoehler[2018-10-08];HPO:probinson[2021-07-07] @@ -28989,19 +29098,6 @@ OMIM:615184 Cardiomyopathy, dilated, 1II HP:0012665 PMID:16793013 PCS 1/1 P OMIM:615184 Cardiomyopathy, dilated, 1II HP:0000006 PMID:16483541 PCS I HPO:skoehler[2013-05-03];HPO:probinson[2022-07-04] OMIM:615184 Cardiomyopathy, dilated, 1II HP:0004756 PMID:16483541 PCS 1/1 P HPO:probinson[2022-07-04] OMIM:615184 Cardiomyopathy, dilated, 1II HP:0001644 PMID:16793013;PMID:16483541 PCS 2/2 HP:0012825 P HPO:probinson[2022-07-04];HPO:skoehler[2013-06-06];HPO:probinson[2022-07-04] -OMIM:156580 Microcephaly, autosomal dominant HP:0000582 OMIM:156580 IEA P HPO:iea[2009-02-17] -OMIM:156580 Microcephaly, autosomal dominant HP:0000340 OMIM:156580 TAS P HPO:probinson[2012-05-01] -OMIM:156580 Microcephaly, autosomal dominant HP:0000252 OMIM:156580 TAS P HPO:probinson[2012-05-01] -OMIM:156580 Microcephaly, autosomal dominant HP:0004322 OMIM:156580 TAS P HPO:probinson[2012-05-01] -OMIM:156580 Microcephaly, autosomal dominant HP:0000350 OMIM:156580 IEA P HPO:skoehler[2018-10-08] -OMIM:156580 Microcephaly, autosomal dominant HP:0011304 OMIM:156580 TAS P HPO:probinson[2012-04-01] -OMIM:156580 Microcephaly, autosomal dominant HP:0011094 OMIM:156580 TAS P HPO:probinson[2012-04-01] -OMIM:156580 Microcephaly, autosomal dominant HP:0010055 OMIM:156580 TAS P HPO:probinson[2012-05-01] -OMIM:156580 Microcephaly, autosomal dominant HP:0000601 OMIM:156580 IEA P HPO:iea[2009-02-17] -OMIM:156580 Microcephaly, autosomal dominant HP:0000411 OMIM:156580 IEA P HPO:iea[2009-02-17] -OMIM:156580 Microcephaly, autosomal dominant HP:0001137 OMIM:156580 IEA P HPO:iea[2009-02-17] -OMIM:156580 Microcephaly, autosomal dominant HP:0000666 OMIM:156580 IEA P HPO:iea[2009-02-17] -OMIM:156580 Microcephaly, autosomal dominant HP:0000006 OMIM:156580 TAS I HPO:skoehler[2013-05-29] OMIM:619966 Spastic paraplegia 87, autosomal recessive HP:0001256 PMID:35718349 PCS 5/5 P HPO:probinson[2022-08-20] OMIM:619966 Spastic paraplegia 87, autosomal recessive HP:0000750 PMID:35718349 PCS 1/7 P HPO:probinson[2022-08-20] OMIM:619966 Spastic paraplegia 87, autosomal recessive HP:0000486 PMID:35718349 PCS 1/7 P HPO:probinson[2022-08-20] @@ -29089,6 +29185,7 @@ OMIM:309000 Lowe syndrome HP:0003774 PMID:27011217 PCS HP:0003581 P HPO:prob OMIM:309000 Lowe syndrome HP:0003577 PMID:27011217 PCS C HPO:probinson[2023-04-02] OMIM:309000 Lowe syndrome HP:0001508 OMIM:309000 IEA P HPO:iea[2009-02-17] OMIM:309000 Lowe syndrome HP:0006297 OMIM:309000 IEA P HPO:iea[2009-02-17] +OMIM:309000 Lowe syndrome HP:0000733 OMIM:309000 IEA HP:0030674 P HPO:iea[2009-02-17] OMIM:309000 Lowe syndrome HP:0007663 OMIM:309000 TAS P HPO:skoehler[2015-07-26] OMIM:309000 Lowe syndrome HP:0002119 OMIM:309000 IEA P HPO:iea[2009-02-17] OMIM:309000 Lowe syndrome HP:0025435 PMID:27011217 PCS P HPO:probinson[2023-04-02] @@ -29151,6 +29248,7 @@ OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1 HP:0002240 PMID: OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1 HP:0032653 PMID:10944442 PCS 1/2 P HPO:probinson[2021-08-18] OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1 HP:0007183 PMID:10944442 PCS 1/2 P HPO:probinson[2021-08-18] OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1 HP:0001508 PMID:11181577;PMID:10944442 PCS 3/3 P HPO:iea[2009-02-17];HPO:probinson[2021-08-18];HPO:probinson[2021-08-18] +OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1 HP:0000817 PMID:10944442 PCS 2/2 P HPO:skoehler[2019-02-22];HPO:probinson[2021-08-18] OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1 HP:0000618 OMIM:252010 IEA P HPO:iea[2009-02-17] OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1 HP:0001427 OMIM:252010 IEA I HPO:iea[2009-02-17] OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1 HP:0008872 PMID:10944442 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2021-08-18] @@ -29502,6 +29600,7 @@ OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome HP:000 OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome HP:0011448 PMID:30824121 PCS 1/4 P HPO:probinson[2020-08-12] OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome HP:0009055 PMID:30824121 PCS 1/4 P HPO:probinson[2020-08-12] OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome HP:0000007 PMID:30824121 PCS I HPO:probinson[2020-08-12];HPO:probinson[2020-08-12] +OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome HP:0000722 PMID:30824121 PCS 1/4 P HPO:probinson[2020-08-12] OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome HP:0005978 PMID:30824121 PCS 2/4 P HPO:probinson[2020-08-12] OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome HP:0000047 PMID:30824121 PCS P HPO:probinson[2020-08-12] OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome HP:0000341 PMID:30824121 PCS 1/4 P HPO:probinson[2020-08-12] @@ -29727,6 +29826,7 @@ OMIM:618885 Congenital disorder of glycosylation, type IIt HP:0001290 PMID:3229 OMIM:618885 Congenital disorder of glycosylation, type IIt HP:0010864 PMID:32293671 PCS 6/7 P HPO:probinson[2020-06-23] OMIM:618885 Congenital disorder of glycosylation, type IIt HP:0100785 PMID:32293671 PCS 6/7 P HPO:probinson[2020-06-23];HPO:probinson[2020-06-23] OMIM:618885 Congenital disorder of glycosylation, type IIt HP:0000639 PMID:32293671 PCS 1/7 P HPO:probinson[2020-06-23];HPO:probinson[2020-06-23] +OMIM:618885 Congenital disorder of glycosylation, type IIt HP:0000817 PMID:32293671 PCS 5/7 P HPO:probinson[2020-06-23];HPO:probinson[2020-06-23] OMIM:618885 Congenital disorder of glycosylation, type IIt HP:0012471 PMID:32293671 PCS P HPO:probinson[2020-06-23] OMIM:618885 Congenital disorder of glycosylation, type IIt HP:0012153 PMID:32293671 PCS 2/6 P HPO:probinson[2020-06-23] OMIM:618885 Congenital disorder of glycosylation, type IIt HP:0000316 PMID:32293671 PCS P HPO:probinson[2020-06-23] @@ -29796,34 +29896,38 @@ OMIM:613708 Neuropathy, hereditary sensory, type ID HP:0000006 PMID:21194679 PC OMIM:613708 Neuropathy, hereditary sensory, type ID HP:0001347 PMID:21194679 PCS P HPO:skoehler[2012-11-20];HPO:probinson[2021-11-24] OMIM:613708 Neuropathy, hereditary sensory, type ID HP:0002754 PMID:21194679 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2021-11-24] OMIM:613708 Neuropathy, hereditary sensory, type ID HP:0008944 PMID:21194679 PCS P HPO:probinson[2021-11-24] -OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001276 OMIM:614067 TAS P HPO:skoehler[2012-10-17] -OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0003577 OMIM:614067 TAS C HPO:skoehler[2012-10-17] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001276 PMID:21620353 PCS HP:0011463 3/3 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0004322 OMIM:614067 TAS P HPO:skoehler[2012-10-17] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001371 OMIM:614067 TAS P HPO:skoehler[2012-10-17] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001252 PMID:21620353 PCS 3/3 P HPO:probinson[2023-06-09] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000280 OMIM:614067 TAS P HPO:skoehler[2012-10-17] -OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0010864 OMIM:614067 TAS P HPO:skoehler[2012-10-17] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0010864 PMID:21620353 PCS HP:0003623 3/3 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0100962 PMID:21620353 PCS 3/3 P HPO:probinson[2023-06-09] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0012471 OMIM:614067 TAS P HPO:skoehler[2017-07-13] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000316 OMIM:614067 TAS P HPO:skoehler[2017-07-13] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000414 OMIM:614067 TAS P HPO:skoehler[2012-10-17] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000218 OMIM:614067 TAS P HPO:skoehler[2017-07-13] -OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001347 OMIM:614067 TAS P HPO:skoehler[2012-10-17] -OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000154 OMIM:614067 TAS P HPO:skoehler[2012-10-17] -OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000297 OMIM:614067 TAS P HPO:skoehler[2017-07-13] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001347 PMID:21620353 PCS 1/1 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0003623 PMID:21620353 PCS 3/3 C HPO:probinson[2023-06-09] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0008936 OMIM:614067 TAS P HPO:skoehler[2017-07-13] -OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000252 OMIM:614067 TAS P HPO:skoehler[2012-10-17] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000297 OMIM:614067 TAS P HPO:skoehler[2017-07-13] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000154 OMIM:614067 TAS P HPO:skoehler[2012-10-17] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000252 PMID:21620353 PCS 1/3 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001762 OMIM:614067 TAS P HPO:skoehler[2012-10-17] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000431 OMIM:614067 TAS P HPO:skoehler[2017-07-13] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0003487 OMIM:614067 TAS P HPO:skoehler[2012-10-17] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0031936 PMID:21620353 PCS 3/3 P HPO:probinson[2023-06-09] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0002373 OMIM:614067 TAS HP:0040283 P HPO:skoehler[2017-07-13] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001263 OMIM:614067 TAS P HPO:skoehler[2012-10-17] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0100021 OMIM:614067 IEA P HPO:skoehler[2015-01-21] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000448 OMIM:614067 TAS P HPO:skoehler[2012-10-17] -OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000007 OMIM:614067 TAS I HPO:skoehler[2012-10-17] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000007 PMID:21620353 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0002505 OMIM:614067 TAS P HPO:skoehler[2012-10-17] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0002307 PMID:21620353 PCS 3/3 P HPO:probinson[2023-06-09] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001258 OMIM:614067 IEA P HPO:skoehler[2015-01-21] -OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001257 OMIM:614067 TAS P HPO:skoehler[2012-10-17] -OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000322 OMIM:614067 TAS P HPO:skoehler[2017-07-13] OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0007359 OMIM:614067 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000322 OMIM:614067 TAS P HPO:skoehler[2017-07-13] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0001257 PMID:21620353 PCS 2/3 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] OMIM:115650 Cataract, anterior polar, 1 HP:0001134 OMIM:115650 TAS P HPO:iea[2009-02-17] OMIM:115650 Cataract, anterior polar, 1 HP:0000006 OMIM:115650 TAS I HPO:iea[2009-02-17] OMIM:135580 Fibromuscular dysplasia of arteries HP:0001297 OMIM:135580 TAS P HPO:iea[2009-02-17] @@ -29925,6 +30029,7 @@ OMIM:124300 Darwinian point of pinna HP:0011261 OMIM:124300 TAS P HPO:probi OMIM:124300 Darwinian tubercle of pinna HP:0000006 OMIM:124300 TAS I HPO:iea[2009-02-17] OMIM:248510 Mannosidosis, beta HP:0001014 OMIM:248510 TAS P HPO:probinson[2009-02-17] OMIM:248510 Mannosidosis, beta HP:0000365 OMIM:248510 TAS P HPO:probinson[2009-02-17] +OMIM:248510 Mannosidosis, beta HP:0002167 OMIM:248510 TAS P HPO:probinson[2009-02-17] OMIM:248510 Mannosidosis, beta HP:0001250 OMIM:248510 TAS HP:0040283 P HPO:probinson[2009-02-17] OMIM:248510 Mannosidosis, beta HP:0001252 OMIM:248510 TAS P HPO:probinson[2009-02-17] OMIM:248510 Mannosidosis, beta HP:0003593 PMID:18565776 PCS 1/1 C HPO:probinson[2022-07-01] @@ -30399,6 +30504,7 @@ OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and wi OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures HP:0100704 PMID:34375587 PCS 2/11 P HP:probinson[2021-11-10] OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures HP:0000739 PMID:34375587 PCS 1/11 P HP:probinson[2021-11-10] OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures HP:0020221 PMID:34375587 PCS 1/11 P HP:probinson[2021-11-10] +OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures HP:0000733 PMID:28180184 PCS 1/1 P HPO:probinson[2021-11-10] OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures HP:0000736 PMID:34375587;PMID:28180184 PCS 2/12 P HP:probinson[2021-11-10];HPO:probinson[2021-11-10] OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures HP:0002119 PMID:34375587 PCS 1/11 P HP:probinson[2021-11-10] OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures HP:0008936 PMID:34375587 PCS 3/11 P HP:probinson[2021-11-10] @@ -30565,6 +30671,7 @@ OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavio OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities HP:0001382 PMID:33909990 PCS 17/32 P HPO:probinson[2022-02-04] OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities HP:0045025 PMID:33909990 PCS P HPO:probinson[2022-02-04] OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities HP:0000709 PMID:33909990 PCS 4/30 P HPO:probinson[2022-02-04] +OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities HP:0000708 PMID:33909990 PCS 18/30 P HPO:probinson[2022-02-04] OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities HP:0000729 PMID:33909990 PCS 12/29 P HPO:probinson[2022-02-04] OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities HP:0000629 PMID:33909990 PCS P HPO:probinson[2022-02-04] OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities HP:0000007 PMID:33909990 PCS I HPO:probinson[2022-02-04] @@ -30761,9 +30868,6 @@ OMIM:614099 Cranioectodermal dysplasia 3 HP:0000685 PMID:21378380 PCS 1/2 P OMIM:614099 Cranioectodermal dysplasia 3 HP:0000347 PMID:21378380 PCS 1/2 P HPO:skoehler[2012-11-18];HPO:probinson[2023-03-29] OMIM:614099 Cranioectodermal dysplasia 3 HP:0001799 PMID:21378380 PCS 2/2 P HPO:skoehler[2013-08-10];HPO:probinson[2023-03-29] OMIM:614099 Cranioectodermal dysplasia 3 HP:0000687 PMID:21378380 PCS 2/2 P HPO:skoehler[2012-10-17] -OMIM:247150 Lip prints HP:0000007 OMIM:247150 TAS I HPO:skoehler[2012-10-16] -OMIM:247150 Lip prints HP:0001426 OMIM:247150 TAS I HPO:skoehler[2012-10-16] -OMIM:247150 Lip prints HP:0000159 OMIM:247150 TAS P HPO:skoehler[2012-10-16] OMIM:615387 Immunodeficiency 7, TCR-alpha/beta deficient HP:0002960 PMID:21206088 PCS 2/2 P HPO:skoehler[2013-10-06];HPO:probinson[2023-02-27] OMIM:615387 Immunodeficiency 7, TCR-alpha/beta deficient HP:0002014 PMID:21206088 PCS 2/2 P HPO:probinson[2023-02-27] OMIM:615387 Immunodeficiency 7, TCR-alpha/beta deficient HP:0001045 PMID:21206088 PCS 1/2 P HPO:probinson[2023-02-27] @@ -30978,36 +31082,41 @@ OMIM:188000 Thrombocytopenia 2 HP:0000006 PMID:21211618 PCS I HPO:iea[2009- OMIM:188000 Thrombocytopenia 2 NOT HP:0012524 PMID:21211618 PCS P HPO:probinson[2021-08-27] OMIM:188000 Thrombocytopenia 2 HP:0001974 PMID:10891439 PCS P HPO:probinson[2021-08-27] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000341 OMIM:614066 TAS P HPO:skoehler[2015-10-16] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001276 PMID:21620353 PCS HP:0011463 3/3 P HPO:probinson[2023-06-09] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0003577 OMIM:614066 TAS C HPO:skoehler[2012-10-17] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0002540 OMIM:614066 IEA P HPO:skoehler[2018-10-08] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001332 OMIM:614066 TAS P HPO:skoehler[2012-10-17] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0002540 PMID:21620353 PCS 2/3 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-09] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0004322 OMIM:614066 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001332 OMIM:614066 TAS P HPO:skoehler[2012-10-17] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001250 OMIM:614066 TAS P HPO:skoehler[2015-10-16] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001371 OMIM:614066 TAS P HPO:skoehler[2017-07-13] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0008807 OMIM:614066 TAS P HPO:skoehler[2017-07-13] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000280 OMIM:614066 TAS P HPO:skoehler[2015-10-16] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0010864 OMIM:614066 TAS P HPO:skoehler[2012-10-17] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0010864 PMID:21620353 PCS 3/3 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0100962 PMID:21620353 PCS 2/3 P HPO:probinson[2023-06-09] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0002816 OMIM:614066 TAS HP:0040283 P HPO:skoehler[2012-11-18] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0002518 OMIM:614066 TAS P HPO:skoehler[2013-06-05] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000414 OMIM:614066 TAS P HPO:skoehler[2015-10-16] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0002518 OMIM:614066 TAS P HPO:skoehler[2013-06-05] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0002515 OMIM:614066 TAS P HPO:skoehler[2012-10-17] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0002119 OMIM:614066 TAS P HPO:skoehler[2015-10-16] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000218 OMIM:614066 TAS HP:0040283 P HPO:skoehler[2012-11-18] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001763 OMIM:614066 TAS HP:0040283 P HPO:skoehler[2012-11-18] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001347 OMIM:614066 TAS P HPO:skoehler[2012-10-17] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001347 PMID:21620353 PCS 3/3 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000154 OMIM:614066 TAS P HPO:skoehler[2015-10-16] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000252 OMIM:614066 TAS P HPO:skoehler[2012-10-17] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000750 OMIM:614066 TAS P HPO:skoehler[2012-10-17] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000252 PMID:21620353 PCS 3/3 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000431 OMIM:614066 TAS HP:0040283 P HPO:skoehler[2012-11-18] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001762 OMIM:614066 TAS HP:0040283 P HPO:skoehler[2015-10-16] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0003487 OMIM:614066 TAS P HPO:skoehler[2012-10-17] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000750 OMIM:614066 TAS P HPO:skoehler[2012-10-17] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0002079 OMIM:614066 TAS P HPO:skoehler[2012-10-17] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0003487 PMID:21620353 PCS 2/3 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0031936 PMID:21620353 PCS 3/3 P HPO:probinson[2023-06-09] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001260 OMIM:614066 TAS P HPO:skoehler[2012-10-17] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001263 OMIM:614066 TAS P HPO:skoehler[2012-10-17] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000007 OMIM:614066 TAS I HPO:skoehler[2012-10-17] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001319 OMIM:614066 TAS P HPO:skoehler[2012-10-17] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000007 PMID:21620353 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001319 PMID:21620353 PCS 3/3 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0025502 PMID:21620353 PCS 2/3 P HPO:probinson[2023-06-09] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0002307 PMID:21620353 PCS 1/3 P HPO:probinson[2023-06-09] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001258 OMIM:614066 IEA P HPO:skoehler[2015-01-27] -OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001257 OMIM:614066 TAS P HPO:skoehler[2012-10-17] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0001257 PMID:21620353 PCS 3/3 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000322 OMIM:614066 TAS P HPO:skoehler[2015-10-16] OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0003677 OMIM:614066 TAS C HPO:skoehler[2012-10-17] OMIM:619542 King-Denborough syndrome HP:0030799 PMID:18765655 PCS 1/1 P HPO:probinson[2021-10-23] @@ -31197,6 +31306,7 @@ OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or witho OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 HP:0003155 PMID:11891683 PCS P HPO:probinson[2022-02-09] OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 HP:0100295 PMID:23455423 PCS P HPO:skoehler[2015-08-29];HPO:probinson[2022-02-09] OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 HP:0034159 PMID:23455423 PCS 5/5 P HPO:probinson[2022-04-15] +OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 HP:0000708 PMID:23455423 PCS 1/5 P HPO:skoehler[2015-08-29];HPO:probinson[2022-02-09] OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 HP:0100543 PMID:23455423 PCS 2/5 P HPO:skoehler[2015-08-29];HPO:probinson[2022-02-09] OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 HP:0100614 PMID:11891683 PCS P HPO:skoehler[2015-08-29];HPO:probinson[2022-02-09] OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 HP:0003805 PMID:23455423 PCS 2/2 P HPO:probinson[2022-02-09];HPO:probinson[2022-02-09] @@ -31282,6 +31392,7 @@ OMIM:618106 Intellectual developmental disorder, autosomal dominant 58 HP:00025 OMIM:618106 Intellectual developmental disorder, autosomal dominant 58 HP:0001357 PMID:29688601 PCS 1/5 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-01] OMIM:618106 Intellectual developmental disorder, autosomal dominant 58 HP:0000400 OMIM:618106 TAS P HPO:nvasilevsky[2019-02-26] OMIM:618106 Intellectual developmental disorder, autosomal dominant 58 HP:0000006 PMID:29688601 PCS I HPO:nvasilevsky[2019-02-26];HPO:probinson[2022-06-01] +OMIM:618106 Intellectual developmental disorder, autosomal dominant 58 HP:0001611 PMID:29688601 PCS 1/5 P HPO:probinson[2022-06-01] OMIM:618106 Intellectual developmental disorder, autosomal dominant 58 HP:0000324 PMID:29688601 PCS 2/10 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-01];HPO:probinson[2022-06-01] OMIM:617235 Myoclonus, intractable, neonatal HP:0003577 PMID:27463701 PCS 2/2 C HPO:skoehler[2017-07-13];HPO:probinson[2023-01-30] OMIM:617235 Myoclonus, intractable, neonatal HP:0002015 PMID:27463701 PCS 2/2 P HPO:skoehler[2017-07-13];HPO:probinson[2023-01-30] @@ -31995,6 +32106,7 @@ OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Bl OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type HP:0000193 PMID:26235985 PCS 1/5 MALE P HPO:probinson[2020-09-02] OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type HP:0005164 PMID:26235985 PCS 1/5 MALE P HPO:probinson[2020-09-02] OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type HP:0100660 PMID:26235985 PCS HP:0040283 P HPO:skoehler[2015-10-05];HPO:probinson[2020-09-02] +OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type HP:0000708 PMID:26235985 PCS 1/5 MALE P HPO:probinson[2020-09-02] OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type HP:0000826 PMID:26235985 PCS 5/38 FEMALE P HPO:skoehler[2015-10-05];HPO:probinson[2020-09-02] OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type HP:0001419 PMID:26235985 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2020-09-02] OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type HP:0001257 PMID:26235985 PCS 17/38 FEMALE P HPO:skoehler[2015-10-05];HPO:probinson[2020-09-02] @@ -32022,54 +32134,55 @@ OMIM:605355 Nemaline myopathy 5, Amish type NOT HP:0001249 PMID:10952871 PCS OMIM:605355 Nemaline myopathy 5, Amish type HP:0003798 PMID:10952871 PCS P HPO:iea[2009-02-17];HPO:probinson[2020-10-20] OMIM:605355 Nemaline myopathy 5, Amish type HP:0001337 PMID:10952871 PCS HP:0003623 P HPO:probinson[2009-02-17];HPO:probinson[2020-10-20] OMIM:605355 Nemaline myopathy 5, Amish type HP:0003623 PMID:10952871 PCS C HPO:probinson[2020-10-20] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000463 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] -OMIM:617751 Mental retardation, autosomal dominant 48 HP:0002365 PMID:28886345 PCS 2/6 P HPO:probinson[2022-06-12] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0001250 PMID:28886345 PCS 3/7 P HPO:probinson[2018-05-23];HPO:probinson[2022-06-12] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0001252 PMID:28886345 PCS 4/7 P HPO:probinson[2018-05-23];HPO:probinson[2022-06-12] -OMIM:617751 Mental retardation, autosomal dominant 48 HP:0002360 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0003593 PMID:28886345 PCS 1/7 C HPO:probinson[2022-06-12] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0002280 PMID:28886345 PCS 6/12 P HPO:probinson[2018-05-23];HPO:probinson[2022-06-12] -OMIM:617751 Mental retardation, autosomal dominant 48 HP:0010942 PMID:28886345 PCS HP:0011461 1/7 P HPO:probinson[2022-06-12] -OMIM:617751 Mental retardation, autosomal dominant 48 HP:0001629 PMID:28886345 PCS 1/5 P HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0011463 PMID:28886345 PCS 1/7 C HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0011461 PMID:28886345 PCS 3/7 C HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0001647 PMID:28886345 PCS 1/5 P HPO:probinson[2022-06-12] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0008872 PMID:28886345 PCS 3/6 P HPO:probinson[2018-05-23] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000637 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0009765 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] -OMIM:617751 Mental retardation, autosomal dominant 48 HP:0006532 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0001643 PMID:28886345 PCS 1/5 P HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0000752 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000256 PMID:28886345 PCS 2/7 P HPO:probinson[2018-05-23] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0001249 PMID:28886345 PCS 7/7 P HPO:probinson[2018-05-23] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0003623 PMID:28886345 PCS 2/7 C HPO:probinson[2022-06-12] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0001320 PMID:28886345 PCS 1/6 P HPO:probinson[2018-05-23] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0002553 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0006956 PMID:28886345 PCS 2/6 P HPO:probinson[2018-05-23] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000252 PMID:28886345 PCS 4/7 P HPO:probinson[2018-05-23] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0001344 PMID:28886345 PCS 1/7 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0001388 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] -OMIM:617751 Mental retardation, autosomal dominant 48 HP:0002650 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0001321 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0002079 PMID:28886345 PCS 4/6 P HPO:probinson[2018-05-23] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000194 PMID:28886345 PCS P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-12] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0002198 PMID:28886345 PCS 1/6 P HPO:probinson[2018-05-23] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0002195 PMID:28886345 PCS 1/6 P HPO:probinson[2018-05-23] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000407 PMID:28886345 PCS 1/7 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0007033 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0000729 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000426 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0001537 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000964 PMID:28886345 PCS 2/7 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0000403 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] -OMIM:617751 Mental retardation, autosomal dominant 48 HP:0001357 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] -OMIM:617751 Mental retardation, autosomal dominant 48 HP:0000664 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] -OMIM:617751 Mental retardation, autosomal dominant 48 HP:0001511 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000047 PMID:28886345 PCS 2/5 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-12] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000006 PMID:28886345 PCS I HPO:probinson[2018-05-23] OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000369 PMID:28886345 PCS 1/7 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] -OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0002126 PMID:28886345 PCS 1/6 P HPO:probinson[2018-05-23];HPO:probinson[2022-06-12] OMIM:617751 Mental retardation, autosomal dominant 48 HP:0002786 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000463 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] +OMIM:617751 Mental retardation, autosomal dominant 48 HP:0002365 PMID:28886345 PCS 2/6 P HPO:probinson[2022-06-12] +OMIM:617751 Mental retardation, autosomal dominant 48 HP:0002360 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0002280 PMID:28886345 PCS 6/12 P HPO:probinson[2018-05-23];HPO:probinson[2022-06-12] +OMIM:617751 Mental retardation, autosomal dominant 48 HP:0010942 PMID:28886345 PCS HP:0011461 1/7 P HPO:probinson[2022-06-12] +OMIM:617751 Mental retardation, autosomal dominant 48 HP:0001629 PMID:28886345 PCS 1/5 P HPO:probinson[2022-06-12] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0008872 PMID:28886345 PCS 3/6 P HPO:probinson[2018-05-23] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000733 PMID:28886345 PCS 2/7 P HPO:probinson[2018-05-23];HPO:probinson[2022-06-12] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0009765 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] +OMIM:617751 Mental retardation, autosomal dominant 48 HP:0006532 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000256 PMID:28886345 PCS 2/7 P HPO:probinson[2018-05-23] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0001320 PMID:28886345 PCS 1/6 P HPO:probinson[2018-05-23] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0006956 PMID:28886345 PCS 2/6 P HPO:probinson[2018-05-23] +OMIM:617751 Mental retardation, autosomal dominant 48 HP:0002650 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0001321 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000194 PMID:28886345 PCS P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-12] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000426 PMID:28886345 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] +OMIM:617751 Mental retardation, autosomal dominant 48 HP:0001357 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] +OMIM:617751 Mental retardation, autosomal dominant 48 HP:0000664 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] +OMIM:617751 Mental retardation, autosomal dominant 48 HP:0001511 PMID:28886345 PCS 1/7 P HPO:probinson[2022-06-12] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0002126 PMID:28886345 PCS 1/6 P HPO:probinson[2018-05-23];HPO:probinson[2022-06-12] OMIM:618462 Bleeding disorder, platelet-type, 22 HP:0030138 PMID:30213874 PCS P HPO:nvasilevsky[2019-09-11] OMIM:618462 Bleeding disorder, platelet-type, 22 HP:0003540 PMID:30213874 PCS P HPO:nvasilevsky[2019-09-11] OMIM:618462 Bleeding disorder, platelet-type, 22 HP:0001933 PMID:30213874 TAS P HPO:nvasilevsky[2019-09-11] @@ -32383,6 +32496,7 @@ OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortica OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy HP:0001270 PMID:29691655 PCS 2/2 P HPO:probinson[2022-08-14] OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy HP:0500041 PMID:29691655 PCS 1/2 P HPO:probinson[2022-08-14] OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy HP:0011182 PMID:29691655 PCS 1/2 P HPO:probinson[2022-08-14] +OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy HP:0000733 PMID:30275004 PCS 1/2 P HPO:probinson[2022-08-14] OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy HP:0008513 PMID:29691655 PCS 1/2 P HPO:probinson[2022-08-14] OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy HP:0000237 PMID:29691655 PCS 1/2 P HPO:skoehler[2019-02-22];HPO:probinson[2022-08-14] OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy HP:0001249 PMID:30275004 PCS 2/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-08-14] @@ -32663,51 +32777,66 @@ OMIM:617180 Chitayat syndrome HP:0002779 OMIM:617180 TAS P HPO:skoehler[201 OMIM:617180 Chitayat syndrome HP:0002205 OMIM:617180 TAS P HPO:skoehler[2017-07-13] OMIM:617180 Chitayat syndrome HP:0000520 OMIM:617180 TAS P HPO:skoehler[2017-07-13] OMIM:617180 Chitayat syndrome HP:0000006 PMID:27738187 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2019-05-01] +OMIM:166250 Osteoglophonic dysplasia HP:0003510 PMID:16470795;PMID:15625620 PCS 7/7 P HPO:probinson[2023-06-08];HPO:probinson[2023-06-08];HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0001773 OMIM:166250 TAS P HPO:probinson[2013-04-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000882 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0000684 PMID:15625620 PCS 1/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0100490 PMID:15625620 PCS 1/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0003196 PMID:15625620 PCS 1/5 P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0003593 PMID:16470795 PCS 1/2 C HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000041 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0010049 OMIM:166250 TAS P HPO:probinson[2012-06-03] +OMIM:166250 Osteoglophonic dysplasia HP:0011463 PMID:16470795 PCS 1/2 C HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000316 PMID:16470795 PCS 1/2 P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0001800 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0002659 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0001769 OMIM:166250 TAS P HPO:probinson[2013-04-08] +OMIM:166250 Osteoglophonic dysplasia HP:0001169 OMIM:166250 TAS P HPO:probinson[2013-04-07] +OMIM:166250 Osteoglophonic dysplasia HP:0005864 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0000494 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0000453 PMID:15625620 PCS 1/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0001783 OMIM:166250 TAS P HPO:probinson[2012-05-08] +OMIM:166250 Osteoglophonic dysplasia HP:0011800 PMID:16470795;PMID:15625620 PCS 6/7 P HPO:probinson[2023-06-08];HPO:skoehler[2013-11-28];HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000926 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0000767 PMID:15625620 PCS 1/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000327 PMID:15625620 PCS 3/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0009778 PMID:15625620 PCS 2/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000520 PMID:15625620 PCS 1/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000047 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0000369 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0000006 PMID:15625620 PCS I HPO:iea[2009-02-17];HPO:probinson[2023-06-08] OMIM:166250 Osteoglophonic dysplasia HP:0006009 OMIM:166250 TAS P HPO:probinson[2013-04-07] +OMIM:166250 Osteoglophonic dysplasia HP:0008905 PMID:16470795;PMID:15625620 PCS 2/7 P HPO:probinson[2023-06-08];HPO:iea[2009-02-17] OMIM:166250 Osteoglophonic dysplasia HP:0000343 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000882 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0008905 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0001773 OMIM:166250 TAS P HPO:probinson[2013-04-08] OMIM:166250 Osteoglophonic dysplasia HP:0000023 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0001156 PMID:15625620 PCS 2/5 P HPO:probinson[2023-06-08] OMIM:166250 Osteoglophonic dysplasia HP:0000463 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0003196 OMIM:166250 IEA P HPO:iea[2009-02-17] OMIM:166250 Osteoglophonic dysplasia HP:0001230 OMIM:166250 TAS P HPO:probinson[2012-06-03] -OMIM:166250 Osteoglophonic dysplasia HP:0000041 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0010049 OMIM:166250 TAS P HPO:probinson[2012-06-03] OMIM:166250 Osteoglophonic dysplasia HP:0010743 OMIM:166250 TAS P HPO:probinson[2012-05-08] OMIM:166250 Osteoglophonic dysplasia HP:0001508 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000316 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0001800 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0000938 PMID:15625620 PCS 2/5 P HPO:probinson[2023-06-08] OMIM:166250 Osteoglophonic dysplasia HP:0000218 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0002659 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0001769 OMIM:166250 TAS P HPO:probinson[2013-04-08] OMIM:166250 Osteoglophonic dysplasia HP:0001742 OMIM:166250 TAS P HPO:skoehler[2012-10-17] -OMIM:166250 Osteoglophonic dysplasia HP:0001169 OMIM:166250 TAS P HPO:probinson[2013-04-07] -OMIM:166250 Osteoglophonic dysplasia HP:0002676 OMIM:166250 IEA P HPO:skoehler[2010-06-20] OMIM:166250 Osteoglophonic dysplasia HP:0009803 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000494 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0001363 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0005864 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0000336 PMID:15625620 PCS 3/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0002676 OMIM:166250 IEA P HPO:skoehler[2010-06-20] OMIM:166250 Osteoglophonic dysplasia HP:0009826 OMIM:166250 TAS P HPO:probinson[2012-05-27] -OMIM:166250 Osteoglophonic dysplasia HP:0000750 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0001363 PMID:16470795;PMID:15625620 PCS 7/7 P HPO:probinson[2023-06-08];HPO:iea[2009-02-17] OMIM:166250 Osteoglophonic dysplasia HP:0004279 OMIM:166250 TAS P HPO:probinson[2013-04-07] -OMIM:166250 Osteoglophonic dysplasia HP:0001783 OMIM:166250 TAS P HPO:probinson[2012-05-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000750 OMIM:166250 IEA P HPO:iea[2009-02-17] OMIM:166250 Osteoglophonic dysplasia HP:0002098 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000272 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000470 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0011800 OMIM:166250 TAS P HPO:skoehler[2013-11-28] +OMIM:166250 Osteoglophonic dysplasia HP:0000470 PMID:15625620 PCS 2/5 P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0000272 PMID:15625620 PCS 5/5 P HPO:iea[2009-02-17];HPO:probinson[2023-06-08] OMIM:166250 Osteoglophonic dysplasia HP:0005280 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0001739 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000706 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000926 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0011304 PMID:15625620 PCS 2/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000506 PMID:15625620 PCS 3/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000706 PMID:16470795;PMID:15625620 PCS 3/7 P HPO:iea[2009-02-17];HPO:probinson[2023-06-08];HPO:probinson[2023-06-08] OMIM:166250 Osteoglophonic dysplasia HP:0006487 OMIM:166250 TAS P HPO:probinson[2012-05-27] -OMIM:166250 Osteoglophonic dysplasia HP:0002007 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000047 OMIM:166250 IEA P HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0002007 PMID:16470795 PCS 1/2 P HPO:iea[2009-02-17] OMIM:166250 Osteoglophonic dysplasia HP:0000586 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000006 OMIM:166250 IEA I HPO:iea[2009-02-17] +OMIM:166250 Osteoglophonic dysplasia HP:0001510 PMID:15625620 PCS 4/5 P HPO:probinson[2023-06-08] +OMIM:166250 Osteoglophonic dysplasia HP:0000303 PMID:16470795 PCS 1/2 P HPO:iea[2009-02-17] OMIM:166250 Osteoglophonic dysplasia HP:0000028 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000303 OMIM:166250 IEA P HPO:iea[2009-02-17] -OMIM:166250 Osteoglophonic dysplasia HP:0000369 OMIM:166250 IEA P HPO:iea[2009-02-17] OMIM:617194 Lethal congenital contracture syndrome 11 HP:0001561 PMID:27616481 PCS 6/6 P HPO:skoehler[2019-09-07] OMIM:617194 Lethal congenital contracture syndrome 11 HP:0003577 PMID:27616481 PCS 1/6 C HPO:probinson[2023-06-05] OMIM:617194 Lethal congenital contracture syndrome 11 HP:0002089 PMID:27616481 PCS 5/6 P HPO:skoehler[2017-07-13] @@ -33032,6 +33161,7 @@ OMIM:615032 Intellectual developmental disorder with autism and macrocephaly HP OMIM:615032 Intellectual developmental disorder with autism and macrocephaly HP:0000750 PMID:26789910 PCS 1/1 P HPO:probinson[2022-08-13] OMIM:615032 Intellectual developmental disorder with autism and macrocephaly HP:0000194 PMID:26789910 PCS 1/1 P HPO:probinson[2022-08-13] OMIM:615032 Intellectual developmental disorder with autism and macrocephaly HP:0001263 PMID:26789910 PCS 1/1 P HPO:probinson[2022-08-13] +OMIM:615032 Intellectual developmental disorder with autism and macrocephaly HP:4000081 PMID:26789910 PCS 1/1 P HPO:probinson[2022-08-13] OMIM:615032 Intellectual developmental disorder with autism and macrocephaly HP:0031874 PMID:26789910 PCS 1/1 P HPO:probinson[2022-08-13] OMIM:615032 Intellectual developmental disorder with autism and macrocephaly HP:0100023 PMID:26789910 PCS 1/1 P HPO:probinson[2022-08-13] OMIM:615032 Intellectual developmental disorder with autism and macrocephaly HP:0000508 PMID:26789910 PCS 1/1 P HPO:probinson[2022-08-13] @@ -33049,10 +33179,12 @@ OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movemen OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0001270 PMID:19592390 PCS 6/6 P HPO:skoehler[2012-10-17];HPO:probinson[2022-10-08] OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0000180 PMID:19592390 PCS 1/6 P HPO:probinson[2022-10-08] OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0010864 PMID:19592390 PCS 6/6 P HPO:skoehler[2012-10-17];HPO:probinson[2022-10-08] +OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0000817 PMID:19592390 PCS 6/6 P HPO:skoehler[2012-10-17];HPO:probinson[2022-10-08] OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0000316 OMIM:613443 TAS P HPO:skoehler[2012-10-17] OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0000954 PMID:19592390 PCS 1/6 P HPO:probinson[2022-10-08] OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0002518 OMIM:613443 TAS HP:0040283 P HPO:skoehler[2013-06-05] OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0000337 PMID:19592390 PCS 5/6 P HPO:skoehler[2012-10-17];HPO:probinson[2022-10-08] +OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0000733 PMID:19592390 PCS 3/6 P HPO:probinson[2022-10-08];HPO:probinson[2022-10-08] OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0002119 PMID:19592390 PCS 3/6 P HPO:skoehler[2012-10-17];HPO:probinson[2022-10-08] OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0000219 PMID:19592390 PCS 1/6 P HPO:probinson[2022-10-08] OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language HP:0002714 OMIM:613443 TAS P HPO:skoehler[2012-10-17] @@ -33472,6 +33604,7 @@ OMIM:613457 Chromosome 14q11-q22 deletion syndrome HP:0001629 OMIM:613457 TAS OMIM:613457 Chromosome 14q11-q22 deletion syndrome HP:0001508 PMID:33282601 PCS 2/9 P HPO:skoehler[2012-10-17];HPO:probinson[2023-03-11] OMIM:613457 Chromosome 14q11-q22 deletion syndrome HP:0001947 PMID:33282601 PCS 1/9 P HPO:probinson[2023-03-11] OMIM:613457 Chromosome 14q11-q22 deletion syndrome HP:0100704 PMID:33282601 PCS 1/9 P HPO:skoehler[2012-10-17];HPO:probinson[2023-03-11] +OMIM:613457 Chromosome 14q11-q22 deletion syndrome HP:0000817 OMIM:613457;PMID:33282601 PCS 11/19 P HPO:probinson[2023-03-11];HPO:skoehler[2012-10-17] OMIM:613457 Chromosome 14q11-q22 deletion syndrome HP:0030043 PMID:33282601 PCS 1/9 P HPO:probinson[2023-03-11] OMIM:613457 Chromosome 14q11-q22 deletion syndrome HP:0000218 OMIM:613457 TAS P HPO:skoehler[2012-10-17] OMIM:613457 Chromosome 14q11-q22 deletion syndrome HP:0001302 PMID:33282601 PCS 1/9 P HPO:probinson[2023-03-11] @@ -33529,9 +33662,6 @@ OMIM:609180 Congenital disorder of glycosylation, type IF HP:0000007 PMID:11733 OMIM:609180 Congenital disorder of glycosylation, type IF HP:0001019 OMIM:609180 TAS P HPO:skoehler[2015-08-16] OMIM:609180 Congenital disorder of glycosylation, type IF HP:0000648 OMIM:609180 TAS P HPO:skoehler[2015-08-16] OMIM:609180 Congenital disorder of glycosylation, type IF HP:0000962 OMIM:609180 TAS P HPO:skoehler[2015-08-16] -OMIM:238800 Hypermetabolism due to defect in mitochondria HP:0001939 OMIM:238800 IEA P HPO:iea[2009-02-17] -OMIM:238800 Hypermetabolism due to defect in mitochondria NOT HP:0002926 OMIM:238800 TAS P HPO:skoehler[2014-11-27] -OMIM:238800 Hypermetabolism due to defect in mitochondria HP:0000007 OMIM:238800 TAS I HPO:nvasilevsky[2019-03-21];HPO:lccarmody[2019-03-21];HPO:skoehler[2019-03-21] OMIM:275900 Spastic paraplegia 20, autosomal recessive HP:0001256 PMID:18413476 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2023-02-10] OMIM:275900 Spastic paraplegia 20, autosomal recessive HP:0001773 PMID:18413476 PCS 2/2 P HPO:skoehler[2012-10-17];HPO:probinson[2023-02-10] OMIM:275900 Spastic paraplegia 20, autosomal recessive HP:0001156 OMIM:275900 TAS P HPO:skoehler[2014-11-26] @@ -33963,6 +34093,7 @@ OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31 HP:0004209 PMID:3416 OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31 HP:0000488 PMID:34161705 PCS 2/11 P HPO:probinson[2021-08-22] OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31 HP:0001510 PMID:34161705 PCS 3/8 P HPO:probinson[2021-08-22] OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31 HP:0001337 PMID:34161705 PCS 8/11 P HPO:probinson[2021-08-22] +OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31 HP:0001611 PMID:34161705 PCS 2/12 P HPO:probinson[2021-08-22] OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31 HP:0000544 PMID:34161705 PCS 1/12 P HPO:probinson[2021-08-22] OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31 HP:0000742 PMID:34161705 PCS 1/12 P HPO:probinson[2021-08-22] OMIM:212780 Cenani-Lenz syndactyly syndrome HP:0003577 PMID:20381006 PCS 12/12 C HPO:probinson[2022-12-15] @@ -34236,13 +34367,14 @@ OMIM:149700 Lacrimal duct defect HP:0000007 PMID:24372406 PCS I HPO:skoehle OMIM:149700 Lacrimal duct defect HP:0000246 OMIM:149700 TAS HP:0040283 P HPO:skoehler[2015-02-22] OMIM:149700 Lacrimal duct defect HP:0000620 OMIM:149700 TAS HP:0040283 P HPO:skoehler[2017-07-13] OMIM:149700 Lacrimal duct defect HP:0000564 OMIM:149700 IEA P HPO:iea[2009-02-17] -OMIM:617433 Retinitis pigmentosa 78 HP:0030786 OMIM:617433 TAS P HPO:skoehler[2017-07-13] -OMIM:617433 Retinitis pigmentosa 78 HP:0000662 OMIM:617433 IEA P HPO:skoehler[2018-10-08] -OMIM:617433 Retinitis pigmentosa 78 HP:0001123 OMIM:617433 TAS P HPO:skoehler[2017-07-13] -OMIM:617433 Retinitis pigmentosa 78 HP:0007663 OMIM:617433 TAS P HPO:skoehler[2017-07-13] -OMIM:617433 Retinitis pigmentosa 78 HP:0000007 OMIM:617433 TAS I HPO:skoehler[2017-07-13] -OMIM:617433 Retinitis pigmentosa 78 HP:0011505 OMIM:617433 TAS P HPO:skoehler[2017-07-13] -OMIM:617433 Retinitis pigmentosa 78 HP:0000543 OMIM:617433 TAS P HPO:skoehler[2017-07-13] +OMIM:617433 Retinitis pigmentosa 78 HP:0000662 PMID:28132693 PCS 3/3 P HPO:skoehler[2018-10-08] +OMIM:617433 Retinitis pigmentosa 78 HP:0030786 PMID:28132693 PCS 2/3 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:617433 Retinitis pigmentosa 78 HP:0001123 PMID:28132693 PCS 3/3 P HPO:skoehler[2017-07-13] +OMIM:617433 Retinitis pigmentosa 78 HP:0011462 PMID:28132693 PCS 3/3 C HPO:probinson[2023-06-10] +OMIM:617433 Retinitis pigmentosa 78 HP:0000007 PMID:28132693 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:617433 Retinitis pigmentosa 78 HP:0007663 PMID:28132693 PCS 3/3 P HPO:skoehler[2017-07-13] +OMIM:617433 Retinitis pigmentosa 78 HP:0011505 PMID:28132693 PCS 2/3 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:617433 Retinitis pigmentosa 78 HP:0000543 PMID:28132693 PCS 2/3 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] OMIM:100300 Adams-Oliver syndrome 1 HP:0001650 PMID:9823488 PCS P HPO:probinson[2017-06-16] OMIM:100300 Adams-Oliver syndrome 1 HP:0001792 OMIM:100300 IEA P HPO:iea[2009-02-17] OMIM:100300 Adams-Oliver syndrome 1 HP:0001770 OMIM:100300 IEA P HPO:iea[2009-02-17] @@ -35444,6 +35576,7 @@ OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and bra OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities HP:0012650 PMID:33015733 PCS 4/5 P HPO:probinson[2021-02-01] OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities HP:0000718 PMID:33015733 PCS 1/5 P HPO:probinson[2021-02-01] OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities HP:0000514 PMID:33015733 PCS 2/5 P HPO:probinson[2021-02-01] +OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities HP:0000733 PMID:33015733 PCS 1/4 P HPO:probinson[2021-02-01] OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities HP:0001349 PMID:33015733 PCS 1/5 P HPO:probinson[2021-02-01] OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities HP:0002119 PMID:33015733 PCS 1/5 P HPO:probinson[2021-02-01] OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities HP:0009623 PMID:33015733 PCS 3/5 P HPO:probinson[2021-02-01] @@ -36187,29 +36320,30 @@ OMIM:620011 Spinal muscular atrophy, distal, autosomal recessive, 6 HP:0009830 OMIM:620011 Spinal muscular atrophy, distal, autosomal recessive, 6 HP:0000007 PMID:27066569 PCS I HPO:probinson[2022-09-04] OMIM:620011 Spinal muscular atrophy, distal, autosomal recessive, 6 HP:0003438 PMID:31872057 PCS 1/1 P HPO:probinson[2022-09-04] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0007979 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] -OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0002059 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000486 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] -OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000431 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] -OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0031936 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0001272 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] -OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0004330 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] -OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000294 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0032794 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] -OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0011344 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21];HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0033128 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0033725 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0045074 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21];HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0012471 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21];HPO:probinson[2022-03-21] -OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000629 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000316 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000733 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0025336 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000311 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0003623 PMID:32105419 PCS 2/2 C HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0002059 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000431 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0031936 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0004330 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000294 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0011344 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21];HPO:probinson[2022-03-21] +OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000629 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000007 PMID:32105419 PCS I HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0100716 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000648 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0001319 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] -OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0025336 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] -OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000311 PMID:32105419 PCS 2/2 P HPO:probinson[2022-03-21] OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0000666 PMID:32105419 PCS 1/2 P HPO:probinson[2022-03-21] -OMIM:619690 Brunet-Wagner neurodevelopmental syndrome HP:0003623 PMID:32105419 PCS 2/2 C HPO:probinson[2022-03-21] OMIM:617865 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features HP:0001276 PMID:29198722 PCS 2/7 P HPO:skoehler[2018-10-08];HPO:probinson[2022-12-19] OMIM:617865 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features HP:0000486 PMID:29198722 PCS 1/7 P HPO:skoehler[2018-10-08];HPO:probinson[2022-12-19] OMIM:617865 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features HP:0002120 PMID:29198722 PCS 1/7 P HPO:probinson[2022-12-19] @@ -36273,6 +36407,7 @@ OMIM:248600 Maple syrup urine disease HP:0001507 OMIM:248600 IEA P HPO:iea[ OMIM:248600 Maple syrup urine disease HP:0033155 PMID:7413299 PCS P HPO:probinson[2020-10-12] OMIM:248600 Maple syrup urine disease HP:0000007 OMIM:248600 IEA I HPO:iea[2009-02-17] OMIM:248600 Maple syrup urine disease HP:0001943 OMIM:248600 IEA P HPO:iea[2009-02-17] +OMIM:248600 Maple syrup urine disease HP:0008344 OMIM:248600 IEA P HPO:iea[2009-02-17] OMIM:248600 Maple syrup urine disease HP:0008872 OMIM:248600 IEA P HPO:iea[2009-02-17] OMIM:248600 Maple syrup urine disease HP:0001946 OMIM:248600 IEA P HPO:iea[2009-02-17] OMIM:248600 Maple syrup urine disease HP:0001249 OMIM:248600 IEA P HPO:iea[2009-02-17] @@ -36335,7 +36470,9 @@ OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0001290 OMIM:617695 IEA OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0040082 PMID:28823707 PCS 7/7 P HPO:skoehler[2018-10-08] OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0010864 PMID:28823707 PCS 7/7 P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-01] OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0012110 PMID:28823707 PCS 4/4 P HPO:probinson[2023-03-01] +OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0000817 OMIM:617695 IEA P HPO:skoehler[2018-10-08] OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0000414 PMID:28823707 PCS 5/7 P HPO:skoehler[2019-04-18];HPO:probinson[2023-03-01] +OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0000733 PMID:28823707 PCS 4/4 P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-01] OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0001763 PMID:28823707 PCS 2/7 P HPO:probinson[2023-03-01] OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0002355 OMIM:617695 IEA P HPO:skoehler[2018-10-08] OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0001265 OMIM:617695 IEA P HPO:skoehler[2019-04-18] @@ -36615,6 +36752,7 @@ OMIM:610688 Joubert syndrome 6 HP:0000657 PMID:17160906 PCS 1/5 P HPO:iea[20 OMIM:610688 Joubert syndrome 6 HP:0000007 PMID:17160906 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-09-02] OMIM:610688 Joubert syndrome 6 HP:0002419 PMID:17160906 PCS 2/4 P HPO:iea[2009-02-17];HPO:probinson[2022-09-02] OMIM:610688 Joubert syndrome 6 HP:0000546 OMIM:610688 TAS P HPO:skoehler[2012-10-17] +OMIM:610688 Joubert syndrome 6 HP:0000733 PMID:17160906 PCS 1/2 P HPO:probinson[2022-09-02] OMIM:610688 Joubert syndrome 6 HP:0005957 OMIM:610688 IEA P HPO:iea[2009-02-17] OMIM:610688 Joubert syndrome 6 HP:0002404 PMID:17160906 PCS 2/5 P HPO:probinson[2012-06-10];HPO:probinson[2022-09-02] OMIM:610688 Joubert syndrome 6 HP:0000567 OMIM:610688 TAS P HPO:skoehler[2012-10-17] @@ -36941,6 +37079,8 @@ OMIM:617044 Short stature, developmental delay, and congenital heart defects HP OMIM:617044 Short stature, developmental delay, and congenital heart defects HP:0001629 PMID:27259054 PCS HP:0003577 4/5 P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-09] OMIM:617044 Short stature, developmental delay, and congenital heart defects HP:0000519 PMID:27259054 PCS 2/5 P HPO:probinson[2022-09-09] OMIM:617044 Short stature, developmental delay, and congenital heart defects HP:0000007 PMID:27259054 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2022-09-09] +OMIM:617044 Short stature, developmental delay, and congenital heart defects HP:0000733 PMID:27259054 PCS 1/5 P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-09] +OMIM:617044 Short stature, developmental delay, and congenital heart defects HP:0000722 PMID:27259054 PCS 2/5 P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-09] OMIM:617044 Short stature, developmental delay, and congenital heart defects HP:0003508 PMID:27259054 PCS 5/5 P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-09] OMIM:617044 Short stature, developmental delay, and congenital heart defects HP:0100716 PMID:27259054 PCS 1/4 P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-09] OMIM:617044 Short stature, developmental delay, and congenital heart defects HP:0001643 PMID:27259054 PCS 1/5 P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-09] @@ -37135,6 +37275,7 @@ OMIM:135900 Coffin-Siris syndrome 1 HP:0000729 PMID:22405089 PCS 1/9 P HPO:i OMIM:135900 Coffin-Siris syndrome 1 HP:0000965 OMIM:135900 IEA P HPO:iea[2009-02-17] OMIM:135900 Coffin-Siris syndrome 1 HP:0001537 OMIM:135900 IEA P HPO:iea[2009-02-17] OMIM:135900 Coffin-Siris syndrome 1 HP:0000601 OMIM:135900 IEA P HPO:iea[2009-02-17] +OMIM:135900 Coffin-Siris syndrome 1 HP:0000722 OMIM:135900 IEA HP:0040284 P HPO:skoehler[2019-09-07] OMIM:135900 Coffin-Siris syndrome 1 HP:0000047 OMIM:135900 IEA P HPO:iea[2009-02-17] OMIM:135900 Coffin-Siris syndrome 1 HP:0000960 PMID:22405089 PCS 1/9 P HPO:iea[2009-02-17];HPO:probinson[2021-06-21] OMIM:135900 Coffin-Siris syndrome 1 HP:0000322 OMIM:135900 IEA P HPO:skoehler[2019-09-07] @@ -37659,6 +37800,7 @@ OMIM:308350 Developmental and epileptic encephalopathy 1 HP:0001332 OMIM:308350 OMIM:308350 Developmental and epileptic encephalopathy 1 HP:0002123 OMIM:308350 IEA P HPO:skoehler[2010-06-18] OMIM:308350 Developmental and epileptic encephalopathy 1 HP:0002283 PMID:21108397 PCS 2/2 P HPO:probinson[2021-06-23] OMIM:308350 Developmental and epileptic encephalopathy 1 HP:0012469 PMID:11889467 PCS 1/1 P HPO:probinson[2022-06-22] +OMIM:308350 Developmental and epileptic encephalopathy 1 HP:0000817 PMID:11889467 PCS 1/1 P HPO:probinson[2022-06-22] OMIM:308350 Developmental and epileptic encephalopathy 1 HP:0002119 OMIM:308350 IEA P HPO:iea[2009-02-17] OMIM:308350 Developmental and epileptic encephalopathy 1 HP:0001249 PMID:21108397 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2021-06-23] OMIM:308350 Developmental and epileptic encephalopathy 1 HP:0001347 OMIM:308350 IEA P HPO:iea[2009-02-17] @@ -37770,6 +37912,7 @@ OMIM:277590 Weaver syndrome HP:0003186 PMID:22177091 PCS 1/3 P HPO:iea[2009- OMIM:277590 Weaver syndrome HP:0002172 PMID:22177091 PCS 3/3 P HPO:probinson[2022-08-28] OMIM:277590 Weaver syndrome HP:0005280 OMIM:277590 IEA P HPO:iea[2009-02-17] OMIM:277590 Weaver syndrome HP:0011304 PMID:22177091 PCS 2/3 P HPO:iea[2009-02-17];HPO:probinson[2022-08-28] +OMIM:277590 Weaver syndrome HP:0000708 OMIM:277590 TAS P HPO:skoehler[2012-10-17] OMIM:277590 Weaver syndrome HP:0009473 OMIM:277590 IEA P HPO:iea[2009-02-17] OMIM:277590 Weaver syndrome HP:0002808 OMIM:277590 IEA P HPO:iea[2009-02-17] OMIM:277590 Weaver syndrome HP:0007010 PMID:22177091 PCS 3/3 P HPO:probinson[2022-08-28] @@ -38419,6 +38562,7 @@ OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF HP:0003438 PMID:33889 OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF HP:0006886 PMID:33889941 PCS 3/4 P HP:probinson[2021-10-26] OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF HP:0000006 PMID:33889941 PCS I HPO:probinson[2021-10-24];HPO:probinson[2021-10-24] OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF HP:0008944 PMID:33889941 PCS 1/4 P HP:probinson[2021-10-26] +OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF HP:0001611 PMID:33889941 PCS 1/4 P HP:probinson[2021-10-26] OMIM:601356 Lethal short-limb skeletal dysplasia, al Gazali type HP:0003027 OMIM:601356 IEA P HPO:iea[2009-02-17] OMIM:601356 Lethal short-limb skeletal dysplasia, al Gazali type HP:0007759 OMIM:601356 IEA P HPO:iea[2009-02-17] OMIM:601356 Lethal short-limb skeletal dysplasia, al Gazali type HP:0009826 OMIM:601356 TAS HP:0012828 P HPO:probinson[2012-05-05] @@ -38617,6 +38761,7 @@ OMIM:137440 Gerstmann-Straussler disease HP:0001347 OMIM:137440 IEA P HPO:i OMIM:137440 Gerstmann-Straussler disease HP:0001300 OMIM:137440 IEA P HPO:iea[2009-02-17] OMIM:137440 Gerstmann-Straussler disease HP:0002078 OMIM:137440 IEA P HPO:iea[2009-02-17] OMIM:137440 Gerstmann-Straussler disease HP:0002354 OMIM:137440 IEA P HPO:iea[2009-02-17] +OMIM:137440 Gerstmann-Straussler disease HP:0030223 OMIM:137440 TAS P HPO:skoehler[2015-01-04] OMIM:137440 Gerstmann-Straussler disease HP:0001260 OMIM:137440 IEA P HPO:iea[2009-02-17] OMIM:137440 Gerstmann-Straussler disease HP:0003581 OMIM:137440 TAS C HPO:skoehler[2009-02-17] OMIM:137440 Gerstmann-Straussler disease HP:0001284 OMIM:137440 IEA P HPO:iea[2009-02-17] @@ -39208,6 +39353,22 @@ OMIM:618821 Rhizomelic limb shortening with dysmorphic features HP:0001655 PMID OMIM:138000 Glomuvenous malformations HP:0001939 OMIM:138000 IEA P HPO:iea[2009-02-17] OMIM:138000 Glomuvenous malformations HP:0000006 OMIM:138000 IEA I HPO:iea[2009-02-17] OMIM:138000 Glomuvenous malformations HP:0000951 OMIM:138000 IEA P HPO:iea[2009-02-17] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0002153 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0001085 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0005652 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0003155 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0003581 PMID:34668226 PCS 1/1 C HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0012625 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0011002 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0011001 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0001903 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0002737 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0000007 PMID:34668226 PCS I HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0000843 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0007663 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0008897 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0002756 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620366 Osteopetrosis, autosomal recessive 9 HP:0003259 PMID:34668226 PCS 1/1 P HPO:probinson[2023-06-14] OMIM:618835 Combined oxidative phosphorylation deficiency 40 HP:0003236 PMID:30283131 PCS HP:0003593 5/9 P HPO:probinson[2020-07-06] OMIM:618835 Combined oxidative phosphorylation deficiency 40 HP:0001410 PMID:30283131 PCS HP:0003593 5/9 P HPO:probinson[2020-07-06] OMIM:618835 Combined oxidative phosphorylation deficiency 40 HP:0000365 PMID:30283131 PCS HP:0003593 1/1 P HPO:probinson[2020-07-06] @@ -39225,6 +39386,11 @@ OMIM:618835 Combined oxidative phosphorylation deficiency 40 HP:0001522 PMID:30 OMIM:618835 Combined oxidative phosphorylation deficiency 40 HP:0003811 PMID:30283131 PCS 3/9 C HPO:probinson[2020-07-06] OMIM:618835 Combined oxidative phosphorylation deficiency 40 HP:0001622 PMID:30283131 PCS HP:0003577 2/9 P HPO:probinson[2020-07-06] OMIM:618835 Combined oxidative phosphorylation deficiency 40 HP:0003128 PMID:30283131 PCS HP:0003593 9/9 P HPO:probinson[2020-07-06] +OMIM:620372 Hypersulfaturia HP:0006649 PMID:36719378 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620372 Hypersulfaturia HP:0011462 PMID:36719378 PCS 1/1 C HPO:probinson[2023-06-14] +OMIM:620372 Hypersulfaturia HP:0012613 PMID:36719378 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620372 Hypersulfaturia HP:0000007 PMID:36719378 PCS I HPO:probinson[2023-06-14] +OMIM:620372 Hypersulfaturia HP:0000787 PMID:36719378 PCS 1/1 P HPO:probinson[2023-06-14] OMIM:616818 Iga nephropathy, susceptibility to, 3 HP:0003774 PMID:25782674 PCS 2/11 P HPO:probinson[2017-06-17] OMIM:616818 Iga nephropathy, susceptibility to, 3 HP:0003676 OMIM:616818 TAS C HPO:skoehler[2017-07-13] OMIM:616818 Iga nephropathy, susceptibility to, 3 HP:0012574 PMID:25782674 PCS P HPO:probinson[2017-06-17] @@ -39832,36 +39998,41 @@ OMIM:276300 Mismatch repair cancer syndrome 1 HP:0002888 OMIM:276300 IEA P OMIM:276300 Mismatch repair cancer syndrome 1 HP:0002665 PMID:24440087 PCS 5/18 P HPO:iea[2009-02-17];HPO:probinson[2021-06-27] OMIM:276300 Mismatch repair cancer syndrome 1 HP:0002885 PMID:24440087 PCS P HPO:iea[2009-02-17];HPO:probinson[2021-06-27] OMIM:276300 Mismatch repair cancer syndrome 1 HP:0003006 OMIM:276300 IEA P HPO:iea[2009-02-17] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0007957 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000486 OMIM:616603 TAS HP:0040283 P HPO:skoehler[2015-11-15] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0007957 PMID:26320891 PCS 8/8 P HPO:skoehler[2015-11-15] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0003577 PMID:26320891 PCS 8/8 C HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000486 PMID:26320891 PCS 2/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000122 OMIM:616603 TAS HP:0040283 P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001252 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0100790 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001290 OMIM:616603 TAS P HPO:skoehler[2017-07-13] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0011220 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000938 OMIM:616603 TAS HP:0040283 P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000519 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000337 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0008897 OMIM:616603 IEA P HPO:skoehler[2019-09-07] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000411 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001348 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0002677 OMIM:616603 TAS HP:0040283 P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000973 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000252 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001762 OMIM:616603 TAS HP:0040283 P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0011968 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000270 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001263 OMIM:616603 TAS 20/20 P HPO:skoehler[2019-02-22];HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001181 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0100678 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000729 OMIM:616603 TAS HP:0040283 P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0002827 OMIM:616603 TAS P HPO:skoehler[2015-11-15] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0010648 PMID:26320891 PCS 8/8 P HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001252 PMID:26320891 PCS 7/7 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0100790 PMID:26320891 PCS 6/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000938 PMID:26320891 PCS 3/7 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0011220 PMID:26320891 PCS 8/8 P HPO:skoehler[2015-11-15] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000519 PMID:26320891 PCS 6/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0004938 PMID:26320891 PCS 4/8 P HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000337 PMID:26320891 PCS 8/8 P HPO:skoehler[2015-11-15] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0008897 PMID:26320891 PCS 7/8 P HPO:skoehler[2019-09-07];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000411 PMID:26320891 PCS 8/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001348 PMID:26320891 PCS 3/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000973 PMID:26320891 PCS 8/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0002677 PMID:26320891 PCS 2/8 P HPO:skoehler[2015-11-15] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0005667 PMID:26320891 PCS 1/8 P HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000252 PMID:26320891 PCS 5/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001762 PMID:26320891 PCS 3/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001388 PMID:26320891 PCS 8/8 P HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0011968 PMID:26320891 PCS 5/6 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000270 PMID:26320891 PCS 4/7 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001263 PMID:26320891 PCS 8/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001181 PMID:26320891 PCS 5/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0100678 PMID:26320891 PCS 8/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0100857 PMID:26320891 PCS 1/8 P HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000729 PMID:26320891 PCS 1/3 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0002827 PMID:26320891 PCS 5/7 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001659 OMIM:616603 TAS HP:0040283 P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001511 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0002645 OMIM:616603 TAS HP:0040283 P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000369 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000325 OMIM:616603 TAS P HPO:skoehler[2015-11-15] -OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000006 OMIM:616603 TAS I HPO:skoehler[2017-07-13] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0001511 PMID:26320891 PCS 8/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0002645 PMID:26320891 PCS 2/7 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000006 PMID:26320891 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-06-07] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000369 PMID:26320891 PCS 8/8 P HPO:skoehler[2015-11-15] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000325 PMID:26320891 PCS 8/8 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-07] OMIM:601419 Myopathy, myofibrillar, 1 HP:0002014 OMIM:601419 TAS P HPO:iea[2009-02-17] OMIM:601419 Myopathy, myofibrillar, 1 HP:0010628 OMIM:601419 IEA P HPO:iea[2009-02-17] OMIM:601419 Myopathy, myofibrillar, 1 HP:0001662 PMID:17221859 PCS 1/7 P HP:probinson[2019-01-26] @@ -40380,6 +40551,7 @@ OMIM:614558 Epileptic encephalopathy, early infantile, 13 HP:0033258 PMID:24888 OMIM:614558 Epileptic encephalopathy, early infantile, 13 HP:0011097 PMID:22365152 PCS 1/1 P HPO:skoehler[2012-10-17];HPO:probinson[2022-06-04] OMIM:614558 Epileptic encephalopathy, early infantile, 13 HP:0000729 PMID:22365152 PCS 1/1 P HPO:probinson[2022-06-04];HPO:probinson[2022-06-04] OMIM:614558 Epileptic encephalopathy, early infantile, 13 HP:0032792 PMID:25239001;PMID:24888894 PCS 2/8 P HPO:probinson[2022-06-04] +OMIM:614558 Epileptic encephalopathy, early infantile, 13 HP:0000722 PMID:22365152 PCS 1/1 P HPO:probinson[2022-06-04];HPO:probinson[2022-06-04] OMIM:614558 Epileptic encephalopathy, early infantile, 13 HP:0200134 PMID:24888894 PCS P HPO:skoehler[2013-10-06];HPO:probinson[2022-06-04] OMIM:614558 Epileptic encephalopathy, early infantile, 13 HP:0007334 PMID:24888894 PCS 1/7 P HPO:probinson[2022-06-04] OMIM:614558 Epileptic encephalopathy, early infantile, 13 HP:0000006 PMID:22365152 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2022-06-04] @@ -41346,6 +41518,7 @@ OMIM:254200 Myasthenia gravis HP:0000508 OMIM:254200 IEA P HPO:iea[2009-02- OMIM:254200 Myasthenia gravis HP:0002715 OMIM:254200 IEA P HPO:iea[2009-02-17] OMIM:254200 Myasthenia gravis HP:0001426 OMIM:254200 TAS I HPO:nvasilevsky[2019-03-21];HPO:lccarmody[2019-03-21];HPO:skoehler[2019-03-21] OMIM:254200 Myasthenia gravis HP:0003701 OMIM:254200 IEA P HPO:iea[2009-02-17] +OMIM:254200 Myasthenia gravis HP:0001611 OMIM:254200 IEA P HPO:iea[2009-02-17] OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant HP:0001051 PMID:23509104 PCS 2/2 P HPO:probinson[2021-07-10] OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant HP:0034049 PMID:24838973 PCS 3/3 MALE P HPO:probinson[2022-02-05] OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant HP:0030839 PMID:23509104 PCS 2/2 P HPO:probinson[2021-07-10] @@ -41944,6 +42117,7 @@ OMIM:266265 Congenital disorder of glycosylation, type IIc HP:0000729 PMID:2440 OMIM:266265 Congenital disorder of glycosylation, type IIc HP:0100658 OMIM:266265 IEA P HPO:skoehler[2018-10-08] OMIM:266265 Congenital disorder of glycosylation, type IIc HP:0000349 PMID:24403049 PCS 2/2 P HPO:lccarmody[2017-06-21] OMIM:266265 Congenital disorder of glycosylation, type IIc HP:0000007 OMIM:266265 IEA I HPO:iea[2009-02-17] +OMIM:266265 Congenital disorder of glycosylation, type IIc HP:0000722 PMID:24403049 PCS 1/2 P HPO:lccarmody[2017-06-21] OMIM:266265 Congenital disorder of glycosylation, type IIc HP:0000403 PMID:24403049 PCS 2/2 P HPO:lccarmody[2017-06-21] OMIM:266265 Congenital disorder of glycosylation, type IIc HP:0006887 OMIM:266265 IEA P HPO:lccarmody[2017-06-21] OMIM:124950 Deafness, sensorineural, with peripheral neuropathy and arterial disease HP:0008619 OMIM:124950 IEA P HPO:skoehler[2010-06-18] @@ -43116,6 +43290,7 @@ OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinc OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance HP:0000639 OMIM:300486 IEA P HPO:iea[2009-02-17] OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance HP:0007065 PMID:12807966 PCS 1/5 P HPO:iea[2009-02-17];HPO:probinson[2021-09-25] OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance HP:0011220 OMIM:300486 TAS P HPO:skoehler[2012-10-17] +OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance HP:0000733 PMID:12807966 PCS 1/5 P HPO:probinson[2021-09-25] OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance HP:0002119 PMID:12807966 PCS 4/5 P HPO:probinson[2021-09-25] OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance HP:0000219 OMIM:300486 TAS 20/20 P HPO:skoehler[2013-06-04];HPO:iea[2009-02-17] OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance HP:0025336 PMID:12807966 PCS 2/5 P HPO:probinson[2021-09-25] @@ -43336,6 +43511,7 @@ OMIM:619320 Intellectual developmental disorder, autosomal dominant 65 HP:00450 OMIM:619320 Intellectual developmental disorder, autosomal dominant 65 HP:0002194 PMID:33232677 PCS 6/9 P HPO:probinson[2021-07-01] OMIM:619320 Intellectual developmental disorder, autosomal dominant 65 HP:0010953 PMID:33232677 PCS 1/9 P HPO:probinson[2021-07-01] OMIM:619320 Intellectual developmental disorder, autosomal dominant 65 HP:0000729 PMID:33232677 PCS 1/5 P HPO:probinson[2021-07-01] +OMIM:619320 Intellectual developmental disorder, autosomal dominant 65 HP:0000722 PMID:33232677 PCS 1/5 P HPO:probinson[2021-07-01] OMIM:619320 Intellectual developmental disorder, autosomal dominant 65 HP:0004209 PMID:33232677 PCS 3/9 P HPO:probinson[2021-07-01] OMIM:619320 Intellectual developmental disorder, autosomal dominant 65 HP:0000400 PMID:33232677 PCS 2/9 P HPO:probinson[2021-07-01] OMIM:619320 Intellectual developmental disorder, autosomal dominant 65 HP:0000664 PMID:33232677 PCS 2/9 P HPO:probinson[2021-07-01] @@ -43415,6 +43591,7 @@ OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome HP:0001257 PMID:24810580 PC OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome HP:0000248 OMIM:612513 IEA P HPO:skoehler[2010-06-19] OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome HP:0000369 OMIM:612513 TAS P HPO:skoehler[2017-07-13] OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome HP:0000126 OMIM:612513 IEA P HPO:skoehler[2010-06-19] +OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome HP:0001611 OMIM:612513 IEA P HPO:skoehler[2010-06-19] OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome HP:0000341 OMIM:612513 IEA P HPO:skoehler[2010-06-19] OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome HP:0000343 OMIM:612513 IEA P HPO:skoehler[2010-06-20] OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome HP:0000581 OMIM:612513 IEA P HPO:skoehler[2010-06-19] @@ -43774,6 +43951,7 @@ OMIM:301029 Shukla-Vernon syndrome HP:0010864 PMID:24123876 PCS 2/2 P HPO:pr OMIM:301029 Shukla-Vernon syndrome HP:0000718 PMID:30941876 PCS 2/5 P HPO:probinson[2022-11-26] OMIM:301029 Shukla-Vernon syndrome HP:0000316 PMID:30941876 PCS 2/5 P HPO:skoehler[2019-09-07];HPO:probinson[2022-11-26] OMIM:301029 Shukla-Vernon syndrome HP:0100807 PMID:30941876 PCS 3/5 P HPO:skoehler[2019-09-07];HPO:probinson[2022-11-26] +OMIM:301029 Shukla-Vernon syndrome HP:0000733 PMID:30941876 PCS 2/5 P HPO:skoehler[2019-09-07];HPO:probinson[2022-11-26] OMIM:301029 Shukla-Vernon syndrome HP:0000577 PMID:30941876 PCS 1/5 P HPO:skoehler[2019-09-07];HPO:probinson[2022-11-26] OMIM:301029 Shukla-Vernon syndrome HP:0002136 PMID:30941876 PCS 1/5 P HPO:skoehler[2019-09-07];HPO:probinson[2022-11-26] OMIM:301029 Shukla-Vernon syndrome HP:0000494 PMID:30941876 PCS 2/5 P HPO:skoehler[2019-09-07];HPO:probinson[2022-11-26] @@ -43969,6 +44147,9 @@ OMIM:222800 Erythrocytosis, familial, 8 HP:0000007 PMID:2542247 PCS I HPO:i OMIM:222800 Erythrocytosis, familial, 8 HP:0001899 PMID:15054810 PCS 1/1 P HPO:probinson[2022-11-01] OMIM:222800 Erythrocytosis, familial, 8 HP:0001901 PMID:15054810;PMID:2542247 PCS 2/2 P HPO:probinson[2022-11-01];HPO:skoehler[2019-02-22];HPO:probinson[2022-11-01] OMIM:222800 Erythrocytosis, familial, 8 HP:0001744 PMID:15054810 PCS 0/1 P HPO:iea[2009-02-17];HPO:probinson[2022-11-01] +OMIM:620238 Deafness, autosomal recessive 120 HP:0003577 PMID:35727972 PCS 11/11 C HPO:probinson[2023-06-12] +OMIM:620238 Deafness, autosomal recessive 120 HP:0000407 PMID:35727972 PCS 11/11 P HPO:probinson[2023-06-12] +OMIM:620238 Deafness, autosomal recessive 120 HP:0000007 PMID:35727972 PCS I HPO:probinson[2023-06-12] OMIM:218550 Craniosynostosis with fibular aplasia HP:0001363 PMID:8100584 PCS 2/2 P HPO:iea[2009-02-17] OMIM:218550 Craniosynostosis with fibular aplasia HP:0002990 PMID:8100584 PCS 2/2 P HPO:iea[2009-02-17] OMIM:218550 Craniosynostosis with fibular aplasia HP:0000954 PMID:8100584 PCS 2/2 HP:0012832 P HPO:probinson[2018-06-13] @@ -44235,6 +44416,7 @@ OMIM:619644 Immunodeficiency 91 and hyperinflammation HP:0000007 PMID:33876776 OMIM:619644 Immunodeficiency 91 and hyperinflammation HP:0001954 PMID:33876776 PCS 1/4 P HP:probinson[2022-02-14] OMIM:619644 Immunodeficiency 91 and hyperinflammation HP:0001433 PMID:33876776 PCS 2/4 P HP:probinson[2022-02-14] OMIM:619644 Immunodeficiency 91 and hyperinflammation HP:0001873 PMID:33876776 PCS 2/4 P HP:probinson[2022-02-14] +OMIM:606764 Gastrointestinal stromal tumor HP:0001067 OMIM:606764 IEA P HPO:skoehler[2010-06-20] OMIM:606764 Gastrointestinal stromal tumor HP:0001176 OMIM:606764 IEA P HPO:skoehler[2010-06-20] OMIM:606764 Gastrointestinal stromal tumor HP:0002015 OMIM:606764 IEA P HPO:skoehler[2010-06-19] OMIM:606764 Gastrointestinal stromal tumor HP:0001025 OMIM:606764 IEA P HPO:skoehler[2010-06-20] @@ -44502,11 +44684,11 @@ OMIM:209850 Autism susceptibility 1 HP:0011463 OMIM:209850 IEA C HPO:iea[20 OMIM:209850 Autism susceptibility 1 HP:0000717 OMIM:209850 IEA P HPO:iea[2009-02-17] OMIM:209850 Autism susceptibility 1 HP:0000728 OMIM:209850 IEA P HPO:iea[2009-02-17] OMIM:209850 Autism susceptibility 1 HP:0000723 OMIM:209850 TAS P HPO:skoehler[2013-06-04] +OMIM:209850 Autism susceptibility 1 HP:0000733 OMIM:209850 TAS P HPO:skoehler[2009-02-17] OMIM:209850 Autism susceptibility 1 HP:0001426 OMIM:209850 IEA I HPO:iea[2009-02-17] OMIM:209850 Autism susceptibility 1 HP:0000758 OMIM:209850 TAS P HPO:probinson[2009-02-17] OMIM:209850 Autism susceptibility 1 HP:0003745 OMIM:209850 IEA I HPO:iea[2009-02-17] OMIM:209850 Autism susceptibility 1 HP:0000721 OMIM:209850 IEA P HPO:iea[2009-02-17] -OMIM:209850 Autism susceptibility 1 HP:0000732 OMIM:209850 IEA P HPO:iea[2009-02-17] OMIM:209850 Autism susceptibility 1 HP:0001249 OMIM:209850 IEA P HPO:iea[2009-02-17] OMIM:165098 Ophthalmoplegia, familial total, with iris transillumination HP:0007824 OMIM:165098 IEA P HPO:iea[2009-02-17] OMIM:165098 Ophthalmoplegia, familial total, with iris transillumination HP:0000508 OMIM:165098 IEA P HPO:iea[2009-02-17] @@ -44719,24 +44901,33 @@ OMIM:302905 Charge-Like syndrome, X-linked HP:0000411 OMIM:302905 IEA P HPO OMIM:302905 Charge-Like syndrome, X-linked HP:0000047 OMIM:302905 IEA P HPO:iea[2009-02-17] OMIM:302905 Charge-Like syndrome, X-linked HP:0000589 OMIM:302905 IEA P HPO:iea[2009-02-17] OMIM:302905 Charge-Like syndrome, X-linked HP:0002974 OMIM:302905 IEA P HPO:iea[2009-02-17] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000252 OMIM:613355 IEA P HPO:skoehler[2010-06-19] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000365 OMIM:613355 IEA P HPO:skoehler[2010-06-20] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001256 OMIM:613355 IEA P HPO:skoehler[2010-06-20] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000286 PMID:20206336 PCS 2/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000365 PMID:20206336 PCS 2/7 P HPO:skoehler[2010-06-20];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0010605 PMID:20206336 PCS 1/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0004322 PMID:20206336 PCS 1/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0100694 PMID:20206336 PCS 1/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000718 PMID:20206336 PCS 2/7 P HPO:skoehler[2010-06-20];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001647 PMID:20206336 PCS 1/7 P HPO:skoehler[2010-06-19];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000316 PMID:20206336 PCS 1/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0100807 PMID:20206336 PCS 6/7 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0008897 PMID:20206336 PCS 5/7 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001643 PMID:20206336 PCS 3/7 P HPO:skoehler[2010-06-19];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0003745 PMID:20206336 PCS I HPO:skoehler[2010-06-19];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001466 PMID:20206336 PCS I HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001763 PMID:20206336 PCS 2/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000358 PMID:20206336 PCS 1/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000252 PMID:20206336 PCS 5/7 P HPO:skoehler[2010-06-19];HPO:probinson[2023-06-09] OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001762 OMIM:613355 TAS P HPO:skoehler[2015-12-30] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001263 OMIM:613355 IEA P HPO:skoehler[2010-06-20] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0010511 OMIM:613355 IEA P HPO:skoehler[2010-06-19] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0002092 OMIM:613355 IEA P HPO:skoehler[2010-06-19] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001518 OMIM:613355 IEA P HPO:skoehler[2010-06-19] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000718 OMIM:613355 IEA P HPO:skoehler[2010-06-20] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001647 OMIM:613355 IEA P HPO:skoehler[2010-06-19] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001999 OMIM:613355 IEA P HPO:skoehler[2010-06-20] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000822 OMIM:613355 IEA P HPO:skoehler[2018-10-08] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0100807 OMIM:613355 TAS P HPO:skoehler[2012-10-17] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0008897 OMIM:613355 TAS P HPO:skoehler[2012-10-17] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0003745 OMIM:613355 IEA I HPO:skoehler[2010-06-19] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001643 OMIM:613355 IEA P HPO:skoehler[2010-06-19] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001631 OMIM:613355 IEA P HPO:skoehler[2010-06-19] -OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001238 OMIM:613355 IEA P HPO:skoehler[2010-06-19] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0002650 PMID:20206336 PCS 2/7 P HPO:probinson[2023-06-09];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001684 PMID:20206336 PCS 2/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001263 PMID:20206336 PCS 7/7 P HPO:skoehler[2010-06-20];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0010511 PMID:20206336 PCS 6/7 P HPO:skoehler[2010-06-19];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0002092 PMID:20206336 PCS 3/7 P HPO:skoehler[2010-06-19];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0005280 PMID:20206336 PCS 1/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001518 PMID:20206336 PCS 5/7 P HPO:skoehler[2010-06-19];HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000565 PMID:20206336 PCS 2/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001357 PMID:20206336 PCS 1/7 P HPO:probinson[2023-06-09] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0001238 PMID:20206336 PCS 6/7 P HPO:skoehler[2010-06-19];HPO:probinson[2023-06-09] OMIM:180000 Retinal arteries, tortuosity of HP:0000572 PMID:25228067 PCS 0/3 P HPO:skoehler[2010-06-20];HPO:probinson[2022-02-20] OMIM:180000 Retinal arteries, tortuosity of HP:0000573 PMID:25228067 PCS 2/3 P HPO:iea[2009-02-17];HPO:probinson[2022-02-20] OMIM:180000 Retinal arteries, tortuosity of HP:0003581 PMID:25228067 PCS 3/3 C HPO:probinson[2022-02-20] @@ -45122,6 +45313,7 @@ OMIM:619877 Dentici-Novelli neurodevelopmental syndrome HP:0033725 PMID:3339774 OMIM:619877 Dentici-Novelli neurodevelopmental syndrome HP:0000518 PMID:33397746 PCS 5/5 P HPO:probinson[2022-08-13] OMIM:619877 Dentici-Novelli neurodevelopmental syndrome HP:0011461 PMID:33397746 PCS 4/5 C HPO:probinson[2022-08-13] OMIM:619877 Dentici-Novelli neurodevelopmental syndrome HP:0000316 PMID:33397746 PCS 1/5 P HPO:probinson[2022-08-13] +OMIM:619877 Dentici-Novelli neurodevelopmental syndrome HP:0000733 PMID:33397746 PCS 1/3 P HPO:probinson[2022-08-13] OMIM:619877 Dentici-Novelli neurodevelopmental syndrome HP:0000219 PMID:33397746 PCS 1/5 P HPO:probinson[2022-08-13] OMIM:619877 Dentici-Novelli neurodevelopmental syndrome HP:0000154 PMID:33397746 PCS 1/5 P HPO:probinson[2022-08-13] OMIM:619877 Dentici-Novelli neurodevelopmental syndrome HP:0008936 PMID:33397746 PCS 5/5 P HPO:probinson[2022-08-13] @@ -45173,6 +45365,7 @@ OMIM:617682 Pilarowski-Bjornsson syndrome HP:0011229 PMID:28866611 PCS 2/5 P OMIM:617682 Pilarowski-Bjornsson syndrome HP:0000629 PMID:28866611 PCS 3/5 P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-27] OMIM:617682 Pilarowski-Bjornsson syndrome HP:0011098 PMID:28866611 PCS 4/5 P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-27] OMIM:617682 Pilarowski-Bjornsson syndrome HP:0000717 PMID:28866611 PCS 3/5 P HPO:probinson[2023-03-27] +OMIM:617682 Pilarowski-Bjornsson syndrome HP:0000733 PMID:28866611 PCS 3/5 P HPO:probinson[2023-03-27] OMIM:617682 Pilarowski-Bjornsson syndrome HP:0000307 PMID:28866611 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-27] OMIM:617682 Pilarowski-Bjornsson syndrome HP:0008897 PMID:28866611 PCS 2/5 P HPO:probinson[2023-03-27] OMIM:617682 Pilarowski-Bjornsson syndrome HP:0000527 PMID:28866611 PCS 1/5 P HPO:probinson[2023-03-27] @@ -45267,6 +45460,7 @@ OMIM:607485 Frontotemporal lobar degeneration with TDP43 inclusions HP:0002145 OMIM:607485 Frontotemporal lobar degeneration with TDP43 inclusions HP:0002354 OMIM:607485 IEA P HPO:iea[2009-02-17] OMIM:607485 Frontotemporal lobar degeneration with TDP43 inclusions HP:0002120 OMIM:607485 IEA P HPO:iea[2009-02-17] OMIM:607485 Frontotemporal lobar degeneration with TDP43 inclusions HP:0002186 OMIM:607485 IEA P HPO:iea[2009-02-17] +OMIM:607485 Frontotemporal lobar degeneration with TDP43 inclusions HP:0030223 OMIM:607485 TAS P HPO:skoehler[2015-01-04] OMIM:607485 Frontotemporal lobar degeneration with TDP43 inclusions HP:0002591 OMIM:607485 IEA P HPO:iea[2009-02-17] OMIM:607485 Frontotemporal lobar degeneration with TDP43 inclusions HP:0002185 OMIM:607485 IEA P HPO:skoehler[2018-10-08] OMIM:607485 Frontotemporal lobar degeneration with TDP43 inclusions HP:0002171 OMIM:607485 IEA P HPO:skoehler[2010-06-20] @@ -45750,6 +45944,17 @@ OMIM:618406 Body mass index quantitative trait locus 20 HP:0000007 PMID:1264666 OMIM:618406 Body mass index quantitative trait locus 20 HP:0001513 PMID:12646665 PCS P HPO:probinson[2019-09-15] OMIM:618406 Body mass index quantitative trait locus 20 HP:0000842 PMID:12646665 PCS P HPO:probinson[2019-09-15] OMIM:618406 Body mass index quantitative trait locus 20 HP:0000006 PMID:12646665 PCS I HPO:probinson[2019-09-15] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0002223 PMID:34999892 PCS 3/4 P HPO:probinson[2023-06-11] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0034572 PMID:34999892 PCS 1/2 P HPO:probinson[2023-06-11] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0011463 PMID:34999892 PCS 3/4 C HPO:probinson[2023-06-11] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0200016 PMID:34999892 PCS 4/4 P HPO:probinson[2023-06-11] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0003593 PMID:34999892 PCS 1/4 C HPO:probinson[2023-06-11] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0001070 PMID:34999892 PCS 4/4 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0002209 PMID:34999892 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0000007 PMID:34999892 PCS I HPO:probinson[2023-06-11] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0000653 PMID:34999892 PCS 4/4 P HPO:probinson[2023-06-11] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0045075 PMID:34999892 PCS 1/4 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620199 Inflammatory poikiloderma with hair abnormalities and acral keratoses HP:0001029 PMID:34999892 PCS 4/4 P HPO:probinson[2023-06-11] OMIM:184460 Stapes ankylosis with broad thumb and toes HP:0001770 PMID:2319886;PMID:10069712 PCS HP:0040282 P HPO:iea[2009-02-17] OMIM:184460 Stapes ankylosis with broad thumb and toes HP:0003189 PMID:10069712 PCS HP:0040282 P HPO:iea[2009-02-17] OMIM:184460 Stapes ankylosis with broad thumb and toes HP:0000540 OMIM:184460 PCS HP:0040281 P HPO:iea[2009-02-17] @@ -45776,15 +45981,6 @@ OMIM:608615 Oligodontia-colorectal cancer syndrome HP:0000006 PMID:15042511 PCS OMIM:608615 Oligodontia-colorectal cancer syndrome HP:0000677 PMID:21416598;PMID:15042511 PCS 15/15 P HPO:probinson[2013-03-05];HPO:probinson[2021-07-10] OMIM:608615 Oligodontia-colorectal cancer syndrome HP:0033769 PMID:21416598 PCS 1/5 P HPO:probinson[2021-07-10] OMIM:608615 Oligodontia-colorectal cancer syndrome HP:0002215 PMID:21416598 PCS 1/5 P HPO:probinson[2021-07-10] -OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum HP:0006329 OMIM:273050 IEA P HPO:iea[2009-02-17] -OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum HP:0000680 OMIM:273050 IEA P HPO:iea[2009-02-17] -OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum HP:0000706 OMIM:273050 TAS P HPO:skoehler[2017-07-13] -OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum HP:0000007 OMIM:273050 IEA I HPO:iea[2009-02-17] -OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum HP:0006321 OMIM:273050 IEA P HPO:iea[2009-02-17] -OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum HP:0002857 OMIM:273050 IEA P HPO:iea[2009-02-17] -OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum HP:0005439 OMIM:273050 IEA P HPO:iea[2009-02-17] -OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum HP:0000358 OMIM:273050 IEA P HPO:iea[2009-02-17] -OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum HP:0000369 OMIM:273050 IEA P HPO:iea[2009-02-17] OMIM:300914 Deafness, X-linked 6 HP:0003577 PMID:23714752 PCS 4/4 MALE C HPO:probinson[2022-08-07] OMIM:300914 Deafness, X-linked 6 HP:0008619 PMID:23714752 PCS HP:0003577 4/4 MALE P HPO:probinson[2022-08-07];HPO:probinson[2022-08-07] OMIM:300914 Deafness, X-linked 6 HP:0001419 PMID:23714752 PCS I HPO:skoehler[2014-02-25];HPO:probinson[2022-08-07] @@ -45899,6 +46095,7 @@ OMIM:618374 Epileptic encephalopathy, early infantile, 72 HP:0003593 PMID:30323 OMIM:618374 Epileptic encephalopathy, early infantile, 72 HP:0030891 PMID:30323019 PCS 1/2 P HPO:probinson[2022-09-30] OMIM:618374 Epileptic encephalopathy, early infantile, 72 HP:0012469 PMID:30323019 PCS 2/2 P HPO:probinson[2022-09-30] OMIM:618374 Epileptic encephalopathy, early infantile, 72 HP:0100704 PMID:30323019 PCS 1/2 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-30] +OMIM:618374 Epileptic encephalopathy, early infantile, 72 HP:0000817 PMID:30323019 PCS 1/2 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-30] OMIM:618374 Epileptic encephalopathy, early infantile, 72 HP:0200134 PMID:30323019 PCS P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-30] OMIM:618374 Epileptic encephalopathy, early infantile, 72 HP:0025336 PMID:30323019 PCS 2/2 P HPO:probinson[2022-09-30] OMIM:618374 Epileptic encephalopathy, early infantile, 72 HP:0000565 PMID:30323019 PCS 1/2 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-30] @@ -47104,6 +47301,7 @@ OMIM:619297 KINSSHIP syndrome HP:0001508 PMID:33961779 PCS 14/18 P HPO:probi OMIM:619297 KINSSHIP syndrome HP:0100704 PMID:33961779 PCS 1/18 P HPO:probinson[2021-07-05] OMIM:619297 KINSSHIP syndrome HP:0000938 PMID:33961779 PCS 6/17 P HPO:probinson[2021-07-05] OMIM:619297 KINSSHIP syndrome HP:0012450 PMID:33961779 PCS 10/18 P HPO:probinson[2021-07-05] +OMIM:619297 KINSSHIP syndrome HP:0000733 PMID:33961779 PCS 1/18 P HPO:probinson[2021-07-05] OMIM:619297 KINSSHIP syndrome HP:0001305 PMID:33961779 PCS 1/18 P HPO:probinson[2021-07-05] OMIM:619297 KINSSHIP syndrome HP:0000414 PMID:33961779 PCS 15/33 P HPO:probinson[2021-07-05] OMIM:619297 KINSSHIP syndrome HP:0002119 PMID:33961779 PCS 13/15 P HPO:probinson[2021-07-05];HPO:probinson[2021-07-05] @@ -47265,6 +47463,34 @@ OMIM:126200 Multiple sclerosis, susceptibility to HP:0001426 OMIM:126200 IEA OMIM:126200 Multiple sclerosis, susceptibility to HP:0001324 OMIM:126200 TAS P HPO:probinson[2012-04-11] OMIM:126200 Multiple sclerosis, susceptibility to HP:0001257 OMIM:126200 IEA P HPO:iea[2009-02-17] OMIM:126200 Multiple sclerosis, susceptibility to HP:0007305 OMIM:126200 TAS P HPO:probinson[2012-04-11] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0006846 PMID:34483339 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0001332 PMID:34954817 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0003572 PMID:34483339 PCS 2/3 P HPO:probinson[2023-06-14];HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0002385 PMID:34954817 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0003593 PMID:34954817 PCS 1/1 C HPO:probinson[2023-06-14];HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0001508 PMID:34483339;PMID:34954817 PCS 4/6 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0001903 PMID:34483339 PCS 2/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0001987 PMID:34483339 PCS 3/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0008358 PMID:34483339 PCS 3/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0500149 PMID:34483339 PCS 2/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0007325 PMID:34954817 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0001249 PMID:34954817 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0003623 PMID:34483339 PCS 3/3 C HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0003128 PMID:34483339;PMID:34954817 PCS 4/6 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0003348 PMID:34483339 PCS 3/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0002015 PMID:34954817 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0001344 PMID:34954817 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0005961 PMID:34483339 PCS 2/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0002497 PMID:34954817 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0011968 PMID:34483339 PCS 3/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0002154 PMID:34483339 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0001263 PMID:34483339;PMID:34954817 PCS 3/6 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0002151 PMID:34954817 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0001285 PMID:34954817 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0100021 PMID:34954817 PCS 1/3 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0003218 PMID:34483339 PCS 2/2 P HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0000006 PMID:34483339 PCS I HPO:probinson[2023-06-14];HPO:probinson[2023-06-14] +OMIM:620358 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A HP:0002028 PMID:34483339 PCS 2/3 P HPO:probinson[2023-06-14] OMIM:311400 Paine syndrome HP:0006955 OMIM:311400 TAS P HPO:skoehler[2012-09-10] OMIM:311400 Paine syndrome HP:0000252 OMIM:311400 IEA P HPO:iea[2009-02-17] OMIM:311400 Paine syndrome HP:0001264 OMIM:311400 IEA P HPO:iea[2009-02-17] @@ -47329,6 +47555,7 @@ OMIM:615485 Bainbridge-Ropers syndrome HP:0001508 PMID:26647312;PMID:24044690 P OMIM:615485 Bainbridge-Ropers syndrome HP:0002719 PMID:26647312 PCS 1/3 P HPO:probinson[2021-10-03] OMIM:615485 Bainbridge-Ropers syndrome HP:0009487 PMID:26647312;PMID:23383720 PCS 3/7 P HPO:probinson[2021-10-03] OMIM:615485 Bainbridge-Ropers syndrome HP:0007068 PMID:23383720 PCS 1/4 P HPO:probinson[2021-10-03] +OMIM:615485 Bainbridge-Ropers syndrome HP:0000733 PMID:24044690 PCS 1/1 P HPO:probinson[2021-10-03] OMIM:615485 Bainbridge-Ropers syndrome HP:0000219 PMID:28100473 PCS 1/12 P HPO:probinson[2021-10-03] OMIM:615485 Bainbridge-Ropers syndrome HP:0000218 PMID:28100473;PMID:23383720 PCS 11/16 P HPO:skoehler[2018-10-08];HPO:probinson[2021-10-03];HPO:probinson[2021-10-03] OMIM:615485 Bainbridge-Ropers syndrome HP:0000455 PMID:28100473 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2021-10-03] @@ -47832,6 +48059,17 @@ OMIM:609913 Retinitis pigmentosa 32 HP:0000546 PMID:30157172 PCS P HPO:prob OMIM:609913 Retinitis pigmentosa 32 HP:0007663 PMID:30157172 PCS P HPO:probinson[2020-08-31] OMIM:609913 Retinitis pigmentosa 32 HP:0000543 PMID:30157172 PCS P HPO:probinson[2020-08-31] OMIM:609913 Retinitis pigmentosa 32 HP:0007843 PMID:30157172 PCS P HPO:probinson[2020-08-31] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0001332 PMID:34954817 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0001250 PMID:34954817 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0001252 PMID:34954817 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0001263 PMID:34954817 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0005484 PMID:34954817 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0002490 PMID:34954817 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0000007 PMID:34954817 PCS I HPO:probinson[2023-06-14] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0012444 PMID:34954817 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0007359 PMID:34954817 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0032867 PMID:34954817 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 HP:0003623 PMID:34954817 PCS 1/1 C HPO:probinson[2023-06-14] OMIM:616833 Paget disease of bone 6 HP:0000121 OMIM:616833 TAS HP:0040283 P HPO:skoehler[2017-07-13] OMIM:616833 Paget disease of bone 6 HP:0002653 OMIM:616833 TAS P HPO:skoehler[2017-07-13] OMIM:616833 Paget disease of bone 6 HP:0003155 OMIM:616833 TAS P HPO:skoehler[2017-07-13] @@ -47954,6 +48192,7 @@ OMIM:309500 Renpenning syndrome HP:0000322 PMID:15782410 PCS 14/20 P HPO:iea OMIM:309500 Renpenning syndrome HP:0001257 PMID:15782410 PCS 13/33 P HPO:iea[2009-02-17];HPO:probinson[2020-08-09] OMIM:309500 Renpenning syndrome HP:0000248 PMID:15782410 PCS 8/18 P HPO:iea[2009-02-17];HPO:probinson[2020-08-09] OMIM:309500 Renpenning syndrome HP:0000325 OMIM:309500 TAS P HPO:skoehler[2012-10-17] +OMIM:309500 Renpenning syndrome HP:0001611 OMIM:309500 TAS P HPO:skoehler[2012-10-17] OMIM:309500 Renpenning syndrome HP:0005338 OMIM:309500 TAS P HPO:skoehler[2013-06-02] OMIM:309500 Renpenning syndrome HP:0000582 PMID:15782410 PCS 14/31 P HPO:iea[2009-02-17];HPO:probinson[2020-08-09] OMIM:309500 Renpenning syndrome HP:0000540 OMIM:309500 TAS P HPO:skoehler[2012-10-17] @@ -48495,6 +48734,7 @@ OMIM:606407 Hypotonia-cystinuria syndrome HP:0002007 PMID:11524703 PCS P HP OMIM:606407 Hypotonia-cystinuria syndrome HP:0000268 OMIM:606407 IEA P HPO:iea[2009-02-17] OMIM:606407 Hypotonia-cystinuria syndrome HP:0000787 OMIM:606407 IEA P HPO:iea[2009-02-17] OMIM:606407 Hypotonia-cystinuria syndrome HP:0001612 PMID:11524703 PCS 7/7 P HPO:probinson[2022-09-07] +OMIM:606407 Hypotonia-cystinuria syndrome HP:0001611 OMIM:606407 IEA P HPO:iea[2009-02-17] OMIM:609734 Obesity, early-onset, with adrenal insufficiency and red hair HP:0001396 OMIM:609734 TAS P HPO:probinson[2013-03-30] OMIM:609734 Obesity, early-onset, with adrenal insufficiency and red hair HP:0011748 PMID:9620771 PCS 2/2 P HPO:probinson[2013-03-30];HPO:probinson[2023-03-04] OMIM:609734 Obesity, early-onset, with adrenal insufficiency and red hair HP:0002297 PMID:9620771 PCS 2/2 P HPO:probinson[2013-03-30];HPO:probinson[2023-03-04] @@ -48660,6 +48900,7 @@ OMIM:164230 Obsessive-Compulsive disorder 1 HP:0012166 PMID:15820710 PCS P OMIM:164230 Obsessive-Compulsive disorder 1 HP:0000716 PMID:15820710 PCS P HPO:lccarmody[2018-10-02];HPO:lccarmody[2018-10-02] OMIM:164230 Obsessive-Compulsive disorder 1 HP:0030212 PMID:15820710 PCS P HPO:lccarmody[2018-10-02] OMIM:164230 Obsessive-Compulsive disorder 1 HP:0000739 PMID:15820710 PCS P HPO:lccarmody[2018-10-02] +OMIM:164230 Obsessive-Compulsive disorder 1 HP:0000722 OMIM:164230 IEA P HPO:iea[2009-02-17];HPO:lccarmody[2018-10-02];HP:probinson[2019-01-03];HPO:probinson[2022-08-27] OMIM:164230 Obsessive-Compulsive disorder 1 HP:0000006 OMIM:164230 TAS I HPO:skoehler[2013-05-29] OMIM:217500 Corneal dystrophy, band-shaped HP:0007709 OMIM:217500 IEA P HPO:iea[2009-02-17] OMIM:217500 Corneal dystrophy, band-shaped HP:0000007 OMIM:217500 IEA I HPO:iea[2009-02-17] @@ -49016,6 +49257,43 @@ OMIM:224690 Meier-Gorlin syndrome 1 HP:0200055 OMIM:224690 TAS P HPO:skoehl OMIM:224690 Meier-Gorlin syndrome 1 HP:0000028 PMID:21358632 PCS 2/3 P HPO:iea[2009-02-17];HPO:probinson[2022-03-26] OMIM:224690 Meier-Gorlin syndrome 1 HP:0000347 PMID:21358632;OMIM:224690 PCS 12/14 P HPO:iea[2009-02-17];HPO:probinson[2022-03-26] OMIM:224690 Meier-Gorlin syndrome 1 HP:0002644 OMIM:224690 IEA P HPO:iea[2009-02-17] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001695 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001332 PMID:35147173 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001250 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001252 PMID:35147173 PCS 3/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001790 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0003593 PMID:35147173 PCS 1/4 C HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0000639 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0007663 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001522 PMID:35147173 PCS 2/4 C HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0000873 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0000710 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0003623 PMID:35147173 PCS 2/4 C HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0002059 PMID:35147173 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0002376 PMID:35147173 PCS 1/1 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0009806 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0011968 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0025676 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0011924 PMID:35147173 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001263 PMID:35147173 PCS 1/1 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0005484 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0011664 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0011923 PMID:35147173 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0011504 PMID:35147173 PCS 3/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0034197 PMID:35147173 PCS 1/4 C HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0034295 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001639 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0000407 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001518 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0007110 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001955 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0000007 PMID:35147173 PCS I HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0008347 PMID:35147173 PCS 1/1 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0200134 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0003811 PMID:35147173 PCS 1/4 C HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0002104 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0000863 PMID:35147173 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620167 Combined oxidative phosphorylation deficiency 57 HP:0001336 PMID:35147173 PCS 2/4 P HPO:probinson[2023-06-11] OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities HP:0002421 PMID:25558065 PCS 1/3 P HPO:skoehler[2018-10-08];HPO:probinson[2022-11-28] OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities HP:0000121 PMID:25558065 PCS 1/3 P HPO:probinson[2022-11-28] OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities HP:0001374 PMID:25558065 PCS 1/3 P HPO:skoehler[2019-04-18];HPO:probinson[2022-11-28] @@ -49125,12 +49403,16 @@ OMIM:608600 Lipodystrophy, familial partial, type 1 HP:0000006 OMIM:608600 IEA OMIM:608600 Lipodystrophy, familial partial, type 1 HP:0000468 OMIM:608600 IEA P HPO:iea[2009-02-17] OMIM:608600 Lipodystrophy, familial partial, type 1 HP:0000831 OMIM:608600 IEA P HPO:iea[2009-02-17] OMIM:608600 Lipodystrophy, familial partial, type 1 HP:0001677 OMIM:608600 IEA P HPO:iea[2009-02-17] -OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0003487 OMIM:617046 TAS P HPO:skoehler[2017-07-13] -OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0007210 OMIM:617046 TAS P HPO:skoehler[2017-07-13] -OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0000007 OMIM:617046 TAS I HPO:skoehler[2017-07-13] -OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0001258 OMIM:617046 TAS P HPO:skoehler[2017-07-13] -OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0003677 OMIM:617046 TAS C HPO:skoehler[2017-07-13] -OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0001347 OMIM:617046 TAS P HPO:skoehler[2017-07-13] +OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0003596 PMID:26553276 PCS 1/4 C HPO:probinson[2023-06-10] +OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0003487 PMID:26553276 PCS 1/3 P HPO:skoehler[2017-07-13] +OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0003484 PMID:26553276 PCS 0/8 P HPO:probinson[2023-06-10] +OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0002395 PMID:26553276 PCS 4/4 P HPO:probinson[2023-06-10] +OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0007340 PMID:26553276 PCS 4/4 P HPO:probinson[2023-06-10] +OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0011462 PMID:26553276 PCS 3/4 C HPO:probinson[2023-06-10] +OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0007210 PMID:26553276 PCS 1/4 P HPO:skoehler[2017-07-13] +OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0000007 PMID:26553276 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0001258 PMID:26553276 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:617046 Spastic paraplegia 77, autosomal recessive HP:0003677 PMID:26553276 PCS C HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] OMIM:615651 Leukoencephalopathy with ataxia HP:0030502 PMID:23707145 PCS 1/6 P HPO:probinson[2022-11-05] OMIM:615651 Leukoencephalopathy with ataxia HP:0003621 PMID:23707145 PCS 2/6 C HPO:probinson[2022-11-05];HPO:probinson[2022-11-05] OMIM:615651 Leukoencephalopathy with ataxia HP:0002345 PMID:23707145 PCS 2/6 P HPO:probinson[2022-11-05] @@ -49293,6 +49575,19 @@ OMIM:300915 Microphthalmia, syndromic 13 HP:0000565 PMID:24993872 PCS 1/1 P OMIM:300915 Microphthalmia, syndromic 13 HP:0001249 PMID:24993872 PCS 4/4 P HPO:skoehler[2014-02-06];HPO:probinson[2023-02-18] OMIM:300915 Microphthalmia, syndromic 13 HP:0006304 PMID:24993872 PCS 1/1 P HPO:probinson[2023-02-18] OMIM:300915 Microphthalmia, syndromic 13 HP:0000567 PMID:24993872 PCS 1/1 P HPO:probinson[2023-02-18] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0032209 PMID:26854926 PCS 0/1 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0003621 PMID:34956927 PCS 1/1 C HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0003388 PMID:26854926 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0011788 PMID:34956927 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0033076 PMID:34956927 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0033077 PMID:26854926 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0031097 PMID:34956927;PMID:26854926 PCS 0/2 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0034288 PMID:26854926;PMID:34956927 PCS 2/2 P HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0000007 PMID:26854926 PCS I HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0008247 PMID:34956927 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0001324 PMID:26854926 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0033192 PMID:26854926 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620198 Thyroid hormone metabolism, abnormal, 3 HP:0002027 PMID:26854926 PCS 1/1 P HPO:probinson[2023-06-11] OMIM:227400 Factor V deficiency HP:0000132 OMIM:227400 TAS P HPO:probinson[2009-02-17] OMIM:227400 Factor V deficiency HP:0001892 OMIM:227400 IEA P HPO:iea[2009-02-17] OMIM:227400 Factor V deficiency HP:0003225 OMIM:227400 IEA P HPO:iea[2009-02-17] @@ -49447,6 +49742,7 @@ OMIM:616364 White-Sutton syndrome HP:0002719 PMID:26942287 PCS 6/25 P HPO:pr OMIM:616364 White-Sutton syndrome HP:0001508 PMID:26739615 PCS 2/5 P HPO:probinson[2022-04-12] OMIM:616364 White-Sutton syndrome HP:0000737 PMID:26739615 PCS 1/5 P HPO:probinson[2022-04-12] OMIM:616364 White-Sutton syndrome HP:0000739 PMID:26942287 PCS 3/25 P HPO:probinson[2022-04-12] +OMIM:616364 White-Sutton syndrome HP:0000733 PMID:26942287 PCS 4/25 P HPO:probinson[2022-04-12] OMIM:616364 White-Sutton syndrome HP:0000612 PMID:25533962 PCS 1/2 P HPO:skoehler[2015-09-16];HPO:probinson[2022-04-12] OMIM:616364 White-Sutton syndrome HP:0000337 PMID:26739615 PCS 2/5 P HPO:probinson[2022-04-12] OMIM:616364 White-Sutton syndrome HP:0002515 PMID:26739615 PCS 1/5 P HPO:probinson[2022-04-12] @@ -49547,6 +49843,7 @@ OMIM:619725 Neurodevelopmental disorder with or without variable movement or beh OMIM:619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities HP:0007082 PMID:33242881 PCS 1/10 P HPO:probinson[2022-03-05] OMIM:619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities HP:0011463 PMID:33242881 PCS 8/10 C HPO:probinson[2022-03-05] OMIM:619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities HP:0000739 PMID:33242881 PCS 3/10 P HPO:probinson[2022-03-05] +OMIM:619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities HP:0000733 PMID:33242881 PCS 1/10 P HPO:probinson[2022-03-05] OMIM:619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities HP:0002518 PMID:33242881 PCS 1/10 P HPO:probinson[2022-03-05] OMIM:619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities HP:0001249 PMID:33242881 PCS 9/9 P HPO:probinson[2022-03-05] OMIM:619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities HP:0000252 PMID:33242881 PCS 1/10 P HPO:probinson[2022-03-05] @@ -50143,6 +50440,7 @@ OMIM:617132 Developmental and epileptic encephalopathy 44 HP:0010864 PMID:27545 OMIM:617132 Developmental and epileptic encephalopathy 44 HP:0012469 PMID:27545674 PCS 4/9 P HPO:probinson[2023-06-04] OMIM:617132 Developmental and epileptic encephalopathy 44 HP:0001508 OMIM:617132 TAS P HPO:skoehler[2017-07-13] OMIM:617132 Developmental and epileptic encephalopathy 44 HP:0000737 PMID:27545674 PCS 5/9 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-04] +OMIM:617132 Developmental and epileptic encephalopathy 44 HP:0000817 PMID:27545674 PCS 4/9 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-04] OMIM:617132 Developmental and epileptic encephalopathy 44 HP:0003623 PMID:27545674 PCS 5/9 C HPO:probinson[2023-06-04] OMIM:617132 Developmental and epileptic encephalopathy 44 HP:0008936 PMID:27545674 PCS 9/9 P HPO:probinson[2023-06-04] OMIM:617132 Developmental and epileptic encephalopathy 44 HP:0002059 PMID:27545674 PCS 4/7 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-04] @@ -50767,8 +51065,10 @@ OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskines OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia HP:0010864 PMID:34631954;PMID:33704598 PCS 4/5 P HPO:probinson[2022-02-18] OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia HP:0001508 PMID:33704598 PCS 1/2 P HPO:probinson[2022-02-18] OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia HP:0003819 PMID:34631954 PCS 1/3 C HPO:probinson[2022-02-18] +OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia HP:0000817 PMID:33704598 PCS 1/2 P HPO:probinson[2022-02-18] OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia HP:0000739 PMID:34631954 PCS 3/3 P HPO:probinson[2022-02-18] OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia HP:0000007 PMID:33704598 PCS I HPO:probinson[2022-02-18] +OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia HP:0000722 PMID:34631954 PCS 3/3 P HPO:probinson[2022-02-18] OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia HP:0001638 PMID:34631954 PCS 1/3 P HPO:probinson[2022-02-18] OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia HP:0000713 PMID:33704598 PCS 1/2 P HPO:probinson[2022-02-18] OMIM:619651 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia HP:0025336 PMID:34631954 PCS 3/3 P HPO:probinson[2022-02-18] @@ -50948,6 +51248,7 @@ OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2 HP:00 OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2 HP:0010864 PMID:23033978 PCS 1/1 P HPO:probinson[2021-05-04] OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2 HP:0011461 PMID:23603762 PCS 4/4 C HPO:probinson[2021-05-04] OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2 HP:0002539 PMID:23033978 PCS P HPO:skoehler[2015-01-19];HPO:probinson[2021-05-04] +OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2 HP:0000733 PMID:23033978 PCS 1/1 P HPO:probinson[2021-05-04] OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2 HP:0020221 PMID:23603762 PCS 1/1 P HPO:probinson[2021-05-04] OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2 HP:0002804 PMID:23603762 PCS HP:0011461 1/1 P HPO:skoehler[2013-09-30];HPO:probinson[2021-05-04] OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2 HP:0100716 PMID:23033978 PCS 1/1 P HPO:probinson[2021-05-04] @@ -51224,6 +51525,24 @@ OMIM:125640 DERMOODONTODYSPLASIA HP:0000968 PMID:6616948;OMIM:125640 PCS 20/20 OMIM:125640 DERMOODONTODYSPLASIA HP:0000668 PMID:6616948 PCS P HPO:lccarmody[2018-09-10] OMIM:125640 DERMOODONTODYSPLASIA HP:0000006 OMIM:125640 IEA I HPO:iea[2009-02-17] OMIM:125640 DERMOODONTODYSPLASIA HP:0000963 PMID:6616948 PCS P HPO:lccarmody[2018-09-10] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0002474 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0001256 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0003124 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0004322 PMID:34971397 PCS 1/2 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0030796 PMID:34971397 PCS 1/2 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0002173 PMID:34576089;PMID:34971397 PCS 3/3 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0001263 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0003593 PMID:34576089;PMID:34971397 PCS 3/3 C HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0012450 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0000007 PMID:34576089 PCS I HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0001987 PMID:34576089;PMID:34971397 PCS 3/3 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0001943 PMID:34576089;PMID:34971397 PCS 3/3 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0000821 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0002925 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0007018 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0001510 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0001631 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620211 Hyperinsulinemic hypoglycemia, familial, 8 HP:0000842 PMID:34576089 PCS 1/1 P HPO:probinson[2023-06-11] OMIM:607876 Epilepsy, familial adult myoclonic, 2 HP:0002069 OMIM:607876 PCS 118/229 P HPO:skoehler[2009-02-17];HPO:probinson[2021-02-20] OMIM:607876 Epilepsy, familial adult myoclonic, 2 HP:0002076 PMID:31664034 PCS 42/130 P HPO:probinson[2021-02-20] OMIM:607876 Epilepsy, familial adult myoclonic, 2 HP:0003581 PMID:31664034 PCS C HPO:iea[2009-02-17];HPO:probinson[2021-02-20] @@ -51378,6 +51697,7 @@ OMIM:617330 Hypotonia, ataxia, and delayed development syndrome HP:0001270 PMID OMIM:617330 Hypotonia, ataxia, and delayed development syndrome HP:0030319 PMID:28017372 PCS 3/3 P HPO:probinson[2020-10-09] OMIM:617330 Hypotonia, ataxia, and delayed development syndrome HP:0007021 PMID:28017372 PCS 2/3 P HPO:probinson[2020-10-09] OMIM:617330 Hypotonia, ataxia, and delayed development syndrome HP:0000337 PMID:28017370 PCS 2/8 P HPO:probinson[2020-10-09] +OMIM:617330 Hypotonia, ataxia, and delayed development syndrome HP:0000733 PMID:28017372 PCS 2/3 P HPO:skoehler[2017-07-13];HPO:probinson[2020-10-09] OMIM:617330 Hypotonia, ataxia, and delayed development syndrome HP:0000219 PMID:28017373 PCS 1/10 P HPO:skoehler[2017-07-13];HPO:probinson[2020-10-09] OMIM:617330 Hypotonia, ataxia, and delayed development syndrome HP:0002714 PMID:28017372;PMID:28017370 PCS 2/11 P HPO:skoehler[2017-07-13];HPO:probinson[2020-10-09];HPO:probinson[2020-10-09] OMIM:617330 Hypotonia, ataxia, and delayed development syndrome HP:0000537 PMID:28017372 PCS 1/3 P HPO:probinson[2020-10-09] @@ -52577,10 +52897,10 @@ OMIM:300497 Asperger syndrome susceptibility, X-linked 2 HP:0003621 OMIM:300497 OMIM:300497 Asperger syndrome susceptibility, X-linked 2 HP:0000717 OMIM:300497 IEA P HPO:skoehler[2010-06-20] OMIM:300497 Asperger syndrome susceptibility, X-linked 2 HP:0000728 OMIM:300497 IEA P HPO:iea[2009-02-17] OMIM:300497 Asperger syndrome susceptibility, X-linked 2 HP:0000723 OMIM:300497 TAS P HPO:skoehler[2013-06-04] +OMIM:300497 Asperger syndrome susceptibility, X-linked 2 HP:0000733 OMIM:300497 TAS P HPO:skoehler[2009-02-17] OMIM:300497 Asperger syndrome susceptibility, X-linked 2 HP:0000758 OMIM:300497 IEA P HPO:iea[2009-02-17] OMIM:300497 Asperger syndrome susceptibility, X-linked 2 HP:0001417 PMID:12669065 PCS I HPO:iea[2009-02-17];HPO:probinson[2023-03-01] OMIM:300497 Asperger syndrome susceptibility, X-linked 2 HP:0000721 OMIM:300497 IEA P HPO:iea[2009-02-17] -OMIM:300497 Asperger syndrome susceptibility, X-linked 2 HP:0000732 OMIM:300497 IEA P HPO:iea[2009-02-17] OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant HP:0000252 PMID:29844444 PCS 3/9 P HPO:probinson[2020-09-10] OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant HP:0003212 PMID:29844444 PCS 8/9 P HPO:probinson[2020-09-10] OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant HP:0004322 PMID:29844444 PCS 6/9 P HPO:probinson[2020-09-10] @@ -52619,19 +52939,20 @@ OMIM:615279 Cardiofaciocutaneous syndrome 3 HP:0000962 PMID:16439621 PCS 3/3 OMIM:614167 Myopia 21, autosomal dominant HP:0011463 PMID:21695231 PCS 10/10 C HPO:probinson[2023-03-01] OMIM:614167 Myopia 21, autosomal dominant HP:0011003 PMID:21695231 PCS 10/10 HP:0012828 P HPO:skoehler[2013-06-06];HPO:probinson[2023-03-01] OMIM:614167 Myopia 21, autosomal dominant HP:0000006 PMID:21695231 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2023-03-01] -OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0002069 OMIM:613608 TAS P HPO:skoehler[2012-11-20] -OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0002355 OMIM:613608 TAS HP:0003581 P HPO:skoehler[2012-11-20] -OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0003581 OMIM:613608 TAS C HPO:skoehler[2012-10-17] +OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0002069 PMID:31664039 PCS P HPO:skoehler[2012-11-20];HPO:probinson[2023-06-09] +OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0002355 PMID:31664039 PCS HP:0003581 P HPO:skoehler[2012-11-20];HPO:probinson[2023-06-09] +OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0003621 PMID:31664039 PCS 2/10 C HPO:probinson[2023-06-09] +OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0003596 PMID:31664039 PCS 1/10 C HPO:probinson[2023-06-09] OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0003680 OMIM:613608 TAS C HPO:skoehler[2012-10-17] OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0001340 OMIM:613608 TAS P HPO:skoehler[2012-10-17] OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0001351 OMIM:613608 TAS P HPO:skoehler[2012-10-17] OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0010852 OMIM:613608 TAS P HPO:skoehler[2012-10-17] -OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0011463 OMIM:613608 TAS C HPO:skoehler[2012-11-20] +OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0011462 PMID:31664039 PCS 7/10 C HPO:probinson[2023-06-09] OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0001312 OMIM:613608 TAS P HPO:skoehler[2012-10-17] OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0007359 OMIM:613608 TAS P HPO:skoehler[2012-10-17] -OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0000006 OMIM:613608 TAS I HPO:skoehler[2012-10-17] -OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0001337 OMIM:613608 TAS P HPO:skoehler[2012-11-20] -OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0001336 OMIM:613608 TAS HP:0003581 P HPO:skoehler[2012-11-20] +OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0000006 PMID:31664039 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0001337 PMID:31664039 PCS 8/10 P HPO:skoehler[2012-11-20];HPO:probinson[2023-06-09] +OMIM:613608 Epilepsy, familial adult myoclonic, 3 HP:0001336 PMID:31664039 PCS HP:0003581 P HPO:skoehler[2012-11-20];HPO:probinson[2023-06-09] OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease HP:0000365 PMID:10762540 PCS 1/3 P HPO:probinson[2022-03-26] OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease HP:0001250 PMID:10762540 PCS 1/3 P HP:probinson[2018-07-08] OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease HP:0001252 PMID:10762540 PCS 1/3 P HPO:probinson[2022-03-26] @@ -52743,6 +53064,7 @@ OMIM:619325 Coffin-Siris syndrome 12 HP:0010823 PMID:33232675 PCS 2/12 P HPO OMIM:619325 Coffin-Siris syndrome 12 HP:0001508 PMID:33232675 PCS 5/12 P HPO:probinson[2021-06-24] OMIM:619325 Coffin-Siris syndrome 12 HP:0012450 PMID:33232675 PCS 4/12 P HPO:probinson[2021-06-24] OMIM:619325 Coffin-Siris syndrome 12 HP:0030043 PMID:33232675 PCS 1/12 P HPO:probinson[2021-06-24] +OMIM:619325 Coffin-Siris syndrome 12 HP:0000733 PMID:33232675 PCS 2/12 P HPO:probinson[2021-06-24] OMIM:619325 Coffin-Siris syndrome 12 HP:0000414 PMID:33232675 PCS 5/12 P HPO:probinson[2021-06-24] OMIM:619325 Coffin-Siris syndrome 12 HP:0009765 PMID:33232675 PCS 3/12 P HPO:probinson[2021-06-24] OMIM:619325 Coffin-Siris syndrome 12 HP:0000218 PMID:33232675 PCS 5/12 P HPO:probinson[2021-06-24] @@ -52759,6 +53081,7 @@ OMIM:619325 Coffin-Siris syndrome 12 HP:0003186 PMID:33232675 PCS 1/12 P HPO OMIM:619325 Coffin-Siris syndrome 12 HP:0045025 PMID:33232675 PCS 3/12 P HPO:probinson[2021-06-24] OMIM:619325 Coffin-Siris syndrome 12 HP:0005280 PMID:33232675 PCS 1/12 P HPO:probinson[2021-06-24] OMIM:619325 Coffin-Siris syndrome 12 HP:0011304 PMID:33232675 PCS 1/12 P HPO:probinson[2021-06-24] +OMIM:619325 Coffin-Siris syndrome 12 HP:0000708 PMID:33232675 PCS 5/12 P HPO:probinson[2021-06-24] OMIM:619325 Coffin-Siris syndrome 12 HP:0002608 PMID:33232675 PCS 1/12 P HPO:probinson[2021-06-24] OMIM:619325 Coffin-Siris syndrome 12 HP:0001636 PMID:33232675 PCS 1/12 P HPO:probinson[2021-06-24] OMIM:619325 Coffin-Siris syndrome 12 HP:0002209 PMID:33232675 PCS 2/12 P HPO:probinson[2021-06-24] @@ -53288,6 +53611,20 @@ OMIM:619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus c OMIM:619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum HP:0002349 PMID:31924697 PCS 1/5 P HPO:probinson[2021-10-15] OMIM:619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum HP:0000006 PMID:31924697 PCS I HPO:probinson[2021-10-15];HPO:probinson[2021-10-15] OMIM:619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum HP:0000369 PMID:31924697 PCS 1/5 P HPO:probinson[2021-10-15] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0002421 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0008936 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0002169 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0002376 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0001250 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0003121 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0001263 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0003593 PMID:35262690 PCS 1/1 C HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0012301 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0033725 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0100275 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0011471 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0034353 PMID:35262690 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620201 Congenital disorder of glycosylation, type IIz HP:0000007 PMID:35262690 PCS I HPO:probinson[2023-06-11] OMIM:300454 Intellectual developmental disorder, X-linked 77 HP:0002373 OMIM:300454 TAS P HPO:skoehler[2017-07-13] OMIM:300454 Intellectual developmental disorder, X-linked 77 HP:0001419 OMIM:300454 TAS I HPO:skoehler[2017-07-13] OMIM:300454 Intellectual developmental disorder, X-linked 77 HP:0000752 OMIM:300454 TAS P HPO:skoehler[2017-07-13] @@ -53363,10 +53700,11 @@ OMIM:618577 Neurodevelopmental disorder with structural brain anomalies and dysm OMIM:618577 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies HP:0000028 PMID:30293988 PCS 1/4 MALE P HPO:probinson[2020-07-23];HPO:probinson[2020-07-23] OMIM:618577 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies HP:0000248 PMID:30293988 PCS P HPO:probinson[2020-07-23] OMIM:618577 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies HP:0000347 PMID:29276006 PCS 1/1 P HPO:probinson[2020-07-23];HPO:probinson[2020-07-23] -OMIM:617644 Spermatogenic failure 21 HP:0000789 OMIM:617644 IEA P HPO:skoehler[2018-10-08] -OMIM:617644 Spermatogenic failure 21 HP:0012207 OMIM:617644 IEA P HPO:skoehler[2018-10-08] -OMIM:617644 Spermatogenic failure 21 HP:0000007 OMIM:617644 IEA I HPO:skoehler[2019-04-18] -OMIM:617644 Spermatogenic failure 21 HP:0012869 OMIM:617644 IEA P HPO:skoehler[2018-10-08] +OMIM:617644 Spermatogenic failure 21 HP:0011462 PMID:28199965 PCS 1/1 C HPO:probinson[2023-06-10] +OMIM:617644 Spermatogenic failure 21 HP:0003251 PMID:28199965 PCS 1/1 P HPO:probinson[2023-06-10] +OMIM:617644 Spermatogenic failure 21 HP:0012207 PMID:28199965 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-10] +OMIM:617644 Spermatogenic failure 21 HP:0000007 PMID:28199965 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2023-06-10] +OMIM:617644 Spermatogenic failure 21 HP:0012869 PMID:28199965 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-10] OMIM:139090 Gray platelet syndrome HP:0000132 OMIM:139090 IEA P HPO:skoehler[2010-06-20] OMIM:139090 Gray platelet syndrome HP:0001892 OMIM:139090 IEA P HPO:iea[2009-02-17] OMIM:139090 Gray platelet syndrome HP:0003676 OMIM:139090 TAS C HPO:skoehler[2012-10-17] @@ -53494,6 +53832,7 @@ OMIM:618205 Snijders Blok-Campeau syndrome HP:0011682 PMID:30397230 PCS 1/35 OMIM:618205 Snijders Blok-Campeau syndrome HP:0006297 PMID:30397230 PCS 1/35 P HPO:probinson[2023-02-10] OMIM:618205 Snijders Blok-Campeau syndrome HP:0000316 PMID:30397230 PCS 24/31 P HPO:skoehler[2019-02-15];HPO:probinson[2023-02-10] OMIM:618205 Snijders Blok-Campeau syndrome HP:0000679 PMID:30397230 PCS 1/35 P HPO:probinson[2023-02-10] +OMIM:618205 Snijders Blok-Campeau syndrome HP:0000733 PMID:30397230 PCS 2/35 P HPO:skoehler[2019-02-15];HPO:probinson[2023-02-10] OMIM:618205 Snijders Blok-Campeau syndrome HP:0002317 PMID:30397230 PCS 5/35 P HPO:skoehler[2019-02-15];HPO:probinson[2023-02-10] OMIM:618205 Snijders Blok-Campeau syndrome HP:0002119 OMIM:618205 IEA P HPO:skoehler[2019-02-15] OMIM:618205 Snijders Blok-Campeau syndrome HP:0000218 PMID:30397230 PCS 9/35 P HPO:probinson[2023-02-10] @@ -53697,10 +54036,16 @@ OMIM:608758 Cardiomyopathy, familial hypertrophic, 10 HP:0000006 PMID:8673105 P OMIM:608758 Cardiomyopathy, familial hypertrophic, 10 HP:0001645 PMID:12404107 PCS 2/7 P HPO:skoehler[2017-07-13];HPO:probinson[2021-10-21] OMIM:608758 Cardiomyopathy, familial hypertrophic, 10 HP:0004756 PMID:12404107 PCS P HPO:probinson[2013-03-25];HPO:probinson[2021-10-21] OMIM:608758 Cardiomyopathy, familial hypertrophic, 10 HP:0004755 PMID:12404107 PCS 1/7 P HPO:skoehler[2017-07-13];HPO:probinson[2021-10-21] -OMIM:615709 Sacral agenesis with vertebral anomalies HP:0003577 OMIM:615709 TAS C HPO:skoehler[2014-05-04] -OMIM:615709 Sacral agenesis with vertebral anomalies HP:0000007 OMIM:615709 TAS I HPO:skoehler[2014-05-04] -OMIM:615709 Sacral agenesis with vertebral anomalies HP:0010305 OMIM:615709 IEA P HPO:skoehler[2018-10-08] -OMIM:615709 Sacral agenesis with vertebral anomalies HP:0003468 OMIM:615709 IEA P HPO:skoehler[2015-01-19] +OMIM:615709 Sacral agenesis with vertebral anomalies HP:0002023 PMID:24253444 PCS 1/3 P HPO:probinson[2023-06-10] +OMIM:615709 Sacral agenesis with vertebral anomalies HP:0000122 PMID:24253444 PCS 1/3 P HPO:probinson[2023-06-10] +OMIM:615709 Sacral agenesis with vertebral anomalies HP:0034199 PMID:24253444 PCS 1/3 C HPO:probinson[2023-06-10] +OMIM:615709 Sacral agenesis with vertebral anomalies HP:0034198 PMID:24253444 PCS 1/3 C HPO:probinson[2023-06-10] +OMIM:615709 Sacral agenesis with vertebral anomalies HP:0000007 PMID:24253444 PCS I HPO:skoehler[2014-05-04];HPO:probinson[2023-06-10] +OMIM:615709 Sacral agenesis with vertebral anomalies HP:0003811 PMID:24253444 PCS 3/3 C HPO:probinson[2023-06-10];HPO:probinson[2023-06-10] +OMIM:615709 Sacral agenesis with vertebral anomalies HP:0010305 PMID:24253444 PCS 3/3 P HPO:skoehler[2018-10-08] +OMIM:615709 Sacral agenesis with vertebral anomalies HP:0012621 PMID:24253444 PCS 1/3 P HPO:probinson[2023-06-10] +OMIM:615709 Sacral agenesis with vertebral anomalies HP:0003468 PMID:24253444 PCS 3/3 P HPO:skoehler[2015-01-19];HPO:probinson[2023-06-10] +OMIM:615709 Sacral agenesis with vertebral anomalies HP:0008428 PMID:24253444 PCS 1/3 P HPO:probinson[2023-06-10] OMIM:614417 Epilepsy, familial temporal lobe, 5 HP:0002069 PMID:21922598 PCS 1/4 P HPO:probinson[2021-06-26] OMIM:614417 Epilepsy, familial temporal lobe, 5 HP:0003621 PMID:21922598 PCS 2/4 C HPO:probinson[2021-06-26] OMIM:614417 Epilepsy, familial temporal lobe, 5 HP:0002384 PMID:21922598 PCS 1/4 P HPO:probinson[2021-06-26] @@ -54378,6 +54723,7 @@ OMIM:615084 Mitochondrial DNA depletion syndrome 11 HP:0000508 PMID:23313956 PC OMIM:615084 Mitochondrial DNA depletion syndrome 11 HP:0000007 PMID:23313956 PCS I HPO:skoehler[2013-02-25];HPO:probinson[2022-11-09] OMIM:615084 Mitochondrial DNA depletion syndrome 11 HP:0008443 PMID:23313956 PCS P HPO:skoehler[2013-02-25];HPO:probinson[2022-11-09] OMIM:615084 Mitochondrial DNA depletion syndrome 11 HP:0008347 PMID:23313956 PCS 2/4 P HPO:probinson[2022-11-09] +OMIM:615084 Mitochondrial DNA depletion syndrome 11 HP:0001611 PMID:23313956 PCS P HPO:skoehler[2013-02-25];HPO:probinson[2022-11-09] OMIM:615084 Mitochondrial DNA depletion syndrome 11 HP:0002028 PMID:23313956 PCS 2/6 P HPO:probinson[2022-11-09] OMIM:612933 Glycogen storage disease XI HP:0003236 OMIM:612933 IEA P HPO:skoehler[2010-06-19] OMIM:612933 Glycogen storage disease XI HP:0003621 OMIM:612933 IEA C HPO:skoehler[2010-06-19] @@ -55168,11 +55514,11 @@ OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0003621 OMIM:608638 IEA OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0000728 OMIM:608638 IEA P HPO:iea[2009-02-17] OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0000717 OMIM:608638 IEA P HPO:skoehler[2018-10-08] OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0000723 OMIM:608638 TAS P HPO:skoehler[2013-06-04] +OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0000733 OMIM:608638 TAS P HPO:probinson[2009-02-17] OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0001426 OMIM:608638 IEA I HPO:iea[2009-02-17] OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0000758 OMIM:608638 TAS P HPO:probinson[2009-02-17] OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0003745 OMIM:608638 IEA I HPO:iea[2009-02-17] OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0000721 OMIM:608638 IEA P HPO:iea[2009-02-17] -OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0000732 OMIM:608638 IEA P HPO:iea[2009-02-17] OMIM:608638 Asperger syndrome, susceptibility to, 1 HP:0000753 OMIM:608638 IEA P HPO:iea[2009-02-17] OMIM:617718 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia HP:0003493 PMID:28368018 PCS 2/3 P HPO:probinson[2022-10-30];HPO:probinson[2022-10-30] OMIM:617718 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia HP:0025289 PMID:28368018 PCS 1/3 P HPO:probinson[2022-10-30] @@ -55260,6 +55606,7 @@ OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile HP:0002501 OMIM:205100 TA OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile HP:0001276 PMID:24562058 PCS 1/3 P HPO:probinson[2022-08-16] OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile HP:0002366 OMIM:205100 IEA P HPO:iea[2009-02-17] OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile HP:0002169 PMID:24562058 PCS 1/3 P HPO:probinson[2022-08-16] +OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile HP:0002167 PMID:24562058 PCS 1/3 P HPO:probinson[2022-08-16] OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile HP:0003693 OMIM:205100 TAS P HPO:iea[2009-02-17] OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile HP:0000183 OMIM:205100 TAS P HPO:iea[2009-02-17] OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile HP:0000020 PMID:24562058 PCS 1/3 P HPO:probinson[2022-08-16] @@ -55673,6 +56020,7 @@ OMIM:617532 Intellectual developmental disorder with neuropsychiatric features OMIM:617532 Intellectual developmental disorder with neuropsychiatric features HP:0001263 OMIM:617532 TAS P HPO:nvasilevsky[2018-07-25] OMIM:617532 Intellectual developmental disorder with neuropsychiatric features HP:0001290 OMIM:617532 TAS P HPO:nvasilevsky[2018-07-25] OMIM:617532 Intellectual developmental disorder with neuropsychiatric features HP:0005280 OMIM:617532 TAS P HPO:nvasilevsky[2018-07-25] +OMIM:617532 Intellectual developmental disorder with neuropsychiatric features HP:0000708 OMIM:617532 TAS P HPO:nvasilevsky[2018-07-25] OMIM:617532 Intellectual developmental disorder with neuropsychiatric features HP:0008770 OMIM:617532 TAS P HPO:nvasilevsky[2018-07-25] OMIM:617532 Intellectual developmental disorder with neuropsychiatric features HP:0000319 OMIM:617532 TAS P HPO:nvasilevsky[2018-07-25] OMIM:617532 Intellectual developmental disorder with neuropsychiatric features HP:0000739 OMIM:617532 TAS P HPO:nvasilevsky[2018-07-25] @@ -55709,6 +56057,7 @@ OMIM:607721 Noonan syndrome-like with loose anagen hair 1 HP:0000527 PMID:23918 OMIM:607721 Noonan syndrome-like with loose anagen hair 1 HP:0001659 PMID:23918763 PCS 1/4 P HPO:probinson[2021-05-20] OMIM:607721 Noonan syndrome-like with loose anagen hair 1 HP:0000006 PMID:19684605 PCS I HPO:skoehler[2013-05-03];HPO:probinson[2021-05-20] OMIM:607721 Noonan syndrome-like with loose anagen hair 1 HP:0000369 PMID:19684605;PMID:20882035 PCS 30/33 P HPO:probinson[2021-05-20];HPO:skoehler[2013-05-03];HPO:probinson[2021-05-20] +OMIM:607721 Noonan syndrome-like with loose anagen hair 1 HP:0001611 PMID:19684605;PMID:20882035 PCS 10/31 P HPO:probinson[2021-05-20];HPO:skoehler[2013-05-03];HPO:probinson[2021-05-20] OMIM:607721 Noonan syndrome-like with loose anagen hair 1 HP:0000962 PMID:20882035 PCS 5/8 P HPO:probinson[2021-05-20] OMIM:607721 Noonan syndrome-like with loose anagen hair 1 HP:0000341 PMID:19684605 PCS 2/25 P HPO:probinson[2021-05-20] OMIM:607721 Noonan syndrome-like with loose anagen hair 1 HP:0000540 PMID:19684605 PCS 4/25 P HPO:probinson[2021-05-20] @@ -56504,6 +56853,7 @@ OMIM:309510 Partington syndrome HP:0004373 PMID:15200506 PCS 21/34 P HPO:pro OMIM:309510 Partington syndrome HP:0002061 OMIM:309510 IEA P HPO:iea[2009-02-17] OMIM:309510 Partington syndrome HP:0012469 PMID:15200506 IEA HP:0003593 5/40 P HPO:probinson[2020-08-03];HPO:probinson[2020-08-03] OMIM:309510 Partington syndrome HP:0012385 PMID:15200506 PCS 3/46 P HPO:probinson[2020-08-03] +OMIM:309510 Partington syndrome HP:0000708 PMID:15200506 PCS 8/28 P HPO:probinson[2020-08-03] OMIM:309510 Partington syndrome HP:0001419 OMIM:309510 IEA I HPO:iea[2009-02-17] OMIM:309510 Partington syndrome HP:0000325 OMIM:309510 IEA P HPO:skoehler[2010-06-20] OMIM:309510 Partington syndrome HP:0001249 PMID:15200506 PCS 38/38 MALE P HPO:skoehler[2012-10-17];HPO:probinson[2020-08-03] @@ -56732,6 +57082,7 @@ OMIM:607906 Congenital disorder of glycosylation, type Ii HP:0007183 PMID:33644 OMIM:607906 Congenital disorder of glycosylation, type Ii HP:0000639 PMID:12684507 PCS 1/1 P HPO:skoehler[2015-03-22];HPO:probinson[2022-06-15] OMIM:607906 Congenital disorder of glycosylation, type Ii HP:0000518 PMID:33644825 PCS P HPO:skoehler[2015-03-22];HPO:probinson[2022-06-15] OMIM:607906 Congenital disorder of glycosylation, type Ii HP:0011463 PMID:33644825 PCS 1/3 C HPO:probinson[2022-06-15] +OMIM:607906 Congenital disorder of glycosylation, type Ii HP:0000817 PMID:33644825 PCS 1/3 P HPO:probinson[2022-06-15] OMIM:607906 Congenital disorder of glycosylation, type Ii HP:0000612 PMID:12684507 PCS 1/1 P HPO:probinson[2022-06-15] OMIM:607906 Congenital disorder of glycosylation, type Ii HP:0020045 PMID:33644825 PCS 1/3 P HPO:probinson[2022-06-15] OMIM:607906 Congenital disorder of glycosylation, type Ii HP:0002119 PMID:33644825 PCS 1/3 P HPO:probinson[2022-06-15] @@ -56955,6 +57306,7 @@ OMIM:619293 Blepharophimosis-impaired intellectual development syndrome HP:0012 OMIM:619293 Blepharophimosis-impaired intellectual development syndrome HP:0000418 PMID:32694869 PCS 4/14 P HPO:probinson[2021-06-02] OMIM:619293 Blepharophimosis-impaired intellectual development syndrome HP:0009882 PMID:32694869 PCS 2/12 P HPO:probinson[2021-06-02] OMIM:619293 Blepharophimosis-impaired intellectual development syndrome HP:0006297 PMID:32694869 PCS 1/12 P HPO:probinson[2021-06-02] +OMIM:619293 Blepharophimosis-impaired intellectual development syndrome HP:0000733 PMID:32694869 PCS 1/13 P HPO:probinson[2021-06-02] OMIM:619293 Blepharophimosis-impaired intellectual development syndrome HP:0002837 PMID:32694869 PCS 3/14 P HPO:probinson[2021-06-02] OMIM:619293 Blepharophimosis-impaired intellectual development syndrome HP:0000219 PMID:32694869 PCS 12/14 P HPO:probinson[2021-06-02] OMIM:619293 Blepharophimosis-impaired intellectual development syndrome HP:0006532 PMID:32694869 PCS 1/14 P HPO:probinson[2021-06-02] @@ -57458,6 +57810,7 @@ OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and car OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities HP:0001629 PMID:32891193 PCS 1/19 P HP:probinson[2021-10-27] OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities HP:0008551 PMID:32891193 PCS 2/19 P HP:probinson[2021-10-27] OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities HP:0000414 PMID:32891193 PCS 1/19 P HP:probinson[2021-10-27] +OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities HP:0000733 PMID:32891193 PCS 2/19 P HP:probinson[2021-10-27] OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities HP:0002714 PMID:32891193 PCS 1/19 P HP:probinson[2021-10-27] OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities HP:0000218 PMID:32891193 PCS 1/19 P HP:probinson[2021-10-27] OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities HP:0000455 PMID:32891193 PCS 1/19 P HP:probinson[2021-10-27] @@ -58201,6 +58554,7 @@ OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000463 PMID:29724491 PCS 28/60 OMIM:615873 Helsmoortel-van der Aa syndrome HP:0001270 PMID:24531329 PCS 1/10 P HPO:probinson[2023-02-11] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000737 PMID:24531329 PCS 1/10 P HPO:probinson[2023-02-11] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000739 PMID:24531329 PCS 3/10 P HPO:probinson[2023-02-11] +OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000733 PMID:24531329 PCS 2/10 P HPO:skoehler[2014-08-24] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000219 PMID:29724491;PMID:24531329 PCS 49/74 P HPO:probinson[2023-02-11];HPO:skoehler[2014-08-24];HP:probinson[2019-01-27] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0002119 PMID:24531329 PCS 1/10 P HPO:probinson[2023-02-11] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000735 PMID:24531329 PCS 1/10 P HPO:probinson[2023-02-11] @@ -58251,6 +58605,7 @@ OMIM:615873 Helsmoortel-van der Aa syndrome HP:0009890 PMID:29724491 PCS 33/66 OMIM:615873 Helsmoortel-van der Aa syndrome HP:0012420 PMID:24531329 PCS 1/10 P HPO:probinson[2023-02-11] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000729 PMID:24531329 PCS 3/10 P HPO:skoehler[2014-08-24] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0006385 PMID:24531329 PCS 1/10 P HPO:probinson[2023-02-11] +OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000722 PMID:24531329 PCS 1/10 P HPO:skoehler[2014-08-24] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0001653 PMID:24531329 PCS 2/10 P HPO:probinson[2023-02-11] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000963 PMID:24531329 PCS 2/10 P HPO:probinson[2023-02-11] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000687 PMID:29724491;PMID:24531329 PCS 19/62 P HP:probinson[2019-01-27];HPO:probinson[2023-02-11] @@ -58258,6 +58613,7 @@ OMIM:615873 Helsmoortel-van der Aa syndrome HP:0010628 PMID:24531329 PCS 1/10 OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000540 PMID:24531329 PCS 2/10 P HPO:skoehler[2015-05-31] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0040082 PMID:24531329 PCS 1/10 P HPO:probinson[2023-02-11] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0001508 PMID:24531329 PCS 1/10 P HPO:probinson[2023-02-11] +OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000817 PMID:24531329 PCS 1/10 P HPO:probinson[2023-02-11] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0030680 OMIM:615873 TAS HP:0040283 P HPO:skoehler[2014-08-24] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0001627 OMIM:615873 TAS HP:0040283 P HPO:skoehler[2015-12-30] OMIM:615873 Helsmoortel-van der Aa syndrome HP:0000378 PMID:24531329 PCS 1/10 P HPO:probinson[2023-02-11] @@ -58795,6 +59151,7 @@ OMIM:604765 Cardiomyopathy, dilated, 1I HP:0001644 PMID:10430757 PCS 2/4 P H OMIM:619052 Mitochondrial complex IV deficiency, nuclear type 8 HP:0003621 PMID:20727754 PCS 4/5 C HPO:probinson[2020-12-05] OMIM:619052 Mitochondrial complex IV deficiency, nuclear type 8 HP:0002067 PMID:20727754 PCS 1/5 P HPO:probinson[2020-12-05] OMIM:619052 Mitochondrial complex IV deficiency, nuclear type 8 HP:0004322 PMID:20727754 PCS 1/5 P HPO:probinson[2020-12-05] +OMIM:619052 Mitochondrial complex IV deficiency, nuclear type 8 HP:0030223 PMID:20727754 PCS 2/5 P HPO:probinson[2020-12-05] OMIM:619052 Mitochondrial complex IV deficiency, nuclear type 8 HP:0001260 PMID:20727754 PCS 2/5 P HPO:probinson[2020-12-05] OMIM:619052 Mitochondrial complex IV deficiency, nuclear type 8 HP:0001285 PMID:20727754 PCS 1/5 P HPO:probinson[2020-12-05] OMIM:619052 Mitochondrial complex IV deficiency, nuclear type 8 HP:0002064 PMID:20727754 PCS 1/5 P HPO:probinson[2020-12-05] @@ -59030,11 +59387,12 @@ OMIM:616413 Basal ganglia calcification, idiopathic, 6 HP:0000716 OMIM:616413 T OMIM:616413 Basal ganglia calcification, idiopathic, 6 HP:0000726 OMIM:616413 TAS P HPO:skoehler[2015-06-22] OMIM:616413 Basal ganglia calcification, idiopathic, 6 HP:0000006 PMID:25938945 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2021-04-25] OMIM:616413 Basal ganglia calcification, idiopathic, 6 HP:0004305 OMIM:616413 TAS P HPO:skoehler[2015-06-22] -OMIM:157600 Mirror movements 1 HP:0001256 OMIM:157600 IEA HP:0040284 P HPO:skoehler[2018-10-08] -OMIM:157600 Mirror movements 1 HP:0001274 OMIM:157600 IEA HP:0040284 P HPO:skoehler[2018-10-08] -OMIM:157600 Mirror movements 1 HP:0003829 OMIM:157600 TAS I HPO:skoehler[2012-10-17] -OMIM:157600 Mirror movements 1 HP:0001335 OMIM:157600 IEA P HPO:iea[2009-02-17] -OMIM:157600 Mirror movements 1 HP:0000006 OMIM:157600 IEA I HPO:iea[2009-02-17] +OMIM:157600 Mirror movements 1 and/or agenesis of the corpus callosum HP:0001256 OMIM:157600 IEA HP:0040284 P HPO:skoehler[2018-10-08] +OMIM:157600 Mirror movements 1 and/or agenesis of the corpus callosum HP:0001274 OMIM:157600 IEA HP:0040284 P HPO:skoehler[2018-10-08] +OMIM:157600 Mirror movements 1 and/or agenesis of the corpus callosum HP:0003829 PMID:20431009 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2023-06-10] +OMIM:157600 Mirror movements 1 and/or agenesis of the corpus callosum HP:0003593 PMID:20431009 PCS C HPO:probinson[2023-06-10] +OMIM:157600 Mirror movements 1 and/or agenesis of the corpus callosum HP:0001335 OMIM:157600 IEA P HPO:iea[2009-02-17] +OMIM:157600 Mirror movements 1 and/or agenesis of the corpus callosum HP:0000006 PMID:20431009 PCS I HPO:iea[2009-02-17];HPO:probinson[2023-06-10] OMIM:607278 Osteofibrous dysplasia, susceptibility to HP:0003038 OMIM:607278 TAS HP:0040283 P HPO:skoehler[2017-07-13] OMIM:607278 Osteofibrous dysplasia, susceptibility to HP:0005864 OMIM:607278 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-08-15] OMIM:607278 Osteofibrous dysplasia, susceptibility to HP:0003577 PMID:16203897 PCS C HPO:probinson[2022-08-15];HPO:probinson[2022-08-15] @@ -59052,6 +59410,7 @@ OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3 HP:0001290 PMID OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3 HP:0001290 PMID:15455402 PCS 1/1 P HPO:probinson[2020-12-05] OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3 HP:0001508 PMID:15455402 PCS 1/1 P HPO:probinson[2020-12-05] OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3 HP:0000639 PMID:15455402 PCS 1/1 P HPO:probinson[2020-12-05] +OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3 HP:0000817 PMID:10767350 PCS 1/1 P HPO:probinson[2020-12-05] OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3 HP:0012692 PMID:15455402 PCS 1/1 P HPO:probinson[2020-12-05] OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3 HP:0008872 PMID:12928484 PCS HP:0003623 1/2 P HPO:probinson[2020-12-05] OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3 HP:0008358 PMID:12928484 PCS 1/2 P HPO:probinson[2020-12-05] @@ -59515,6 +59874,7 @@ OMIM:259050 Primrose syndrome HP:0000739 PMID:25017102;PMID:32071410 PCS 3/14 OMIM:259050 Primrose syndrome HP:0009882 OMIM:259050 IEA P HPO:probinson[2009-02-17] OMIM:259050 Primrose syndrome HP:0006254 PMID:25017102 PCS 5/5 P HPO:probinson[2021-08-20] OMIM:259050 Primrose syndrome HP:0000337 PMID:25017102 PCS 7/8 P HPO:skoehler[2014-09-21];HPO:probinson[2021-08-20] +OMIM:259050 Primrose syndrome HP:0000733 PMID:25017102;PMID:32071410 PCS 5/14 P HPO:probinson[2022-06-04];HPO:probinson[2022-06-04];HPO:probinson[2021-08-20] OMIM:259050 Primrose syndrome HP:0002119 PMID:32071410 PCS 3/6 P HPO:probinson[2022-06-04];HPO:probinson[2022-06-04] OMIM:259050 Primrose syndrome HP:0002714 PMID:32071410 PCS 2/6 P HPO:skoehler[2017-07-13];HPO:probinson[2022-06-04] OMIM:259050 Primrose syndrome HP:0000218 PMID:32071410 PCS 1/6 P HPO:probinson[2022-06-04] @@ -59626,6 +59986,7 @@ OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain a OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy HP:0010862 PMID:28626029 PCS 6/6 P HPO:probinson[2022-10-11] OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy HP:0010864 PMID:28626029 PCS 6/6 P HPO:skoehler[2019-02-15];HPO:probinson[2022-10-11] OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy HP:0011463 PMID:28626029 PCS 4/5 C HPO:probinson[2022-10-11] +OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy HP:0000733 PMID:28626029 PCS 6/6 P HPO:skoehler[2019-02-15];HPO:probinson[2022-10-11] OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy HP:0007366 PMID:28626029 PCS 4/4 P HPO:probinson[2022-10-11] OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy HP:0002119 PMID:28626029 PCS 4/4 P HPO:skoehler[2019-02-15];HPO:probinson[2022-10-11] OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy HP:0001324 PMID:28626029 PCS 6/6 P HPO:probinson[2022-10-11] @@ -59804,6 +60165,7 @@ OMIM:619873 Parenti-Mignot neurodevelopmental syndrome HP:0000750 PMID:33944996 OMIM:619873 Parenti-Mignot neurodevelopmental syndrome HP:0012166 PMID:33944996 PCS 1/11 P HPO:probinson[2022-08-13] OMIM:619873 Parenti-Mignot neurodevelopmental syndrome HP:0000729 PMID:33944996 PCS 5/11 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] OMIM:619873 Parenti-Mignot neurodevelopmental syndrome HP:0000426 PMID:33944996 PCS 3/16 P HPO:probinson[2022-08-13] +OMIM:619873 Parenti-Mignot neurodevelopmental syndrome HP:0000722 PMID:33944996 PCS 3/11 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] OMIM:619873 Parenti-Mignot neurodevelopmental syndrome HP:0100716 PMID:33944996 PCS 3/11 P HPO:probinson[2022-08-13] OMIM:619873 Parenti-Mignot neurodevelopmental syndrome HP:0000664 PMID:33944996 PCS 2/16 P HPO:probinson[2022-08-13] OMIM:619873 Parenti-Mignot neurodevelopmental syndrome HP:0002007 PMID:33944996 PCS 2/16 P HPO:probinson[2022-08-13] @@ -60076,6 +60438,7 @@ OMIM:619132 Frontotemporal dementia and/or amytrophic lateral sclerosis 8 HP:00 OMIM:619132 Frontotemporal dementia and/or amytrophic lateral sclerosis 8 HP:0002283 PMID:32666117 PCS 1/2 P HPO:probinson[2022-03-04] OMIM:619132 Frontotemporal dementia and/or amytrophic lateral sclerosis 8 HP:0002185 PMID:23338750 PCS P HPO:probinson[2021-03-13] OMIM:619132 Frontotemporal dementia and/or amytrophic lateral sclerosis 8 HP:0002381 PMID:23338750 PCS P HPO:probinson[2021-03-13] +OMIM:619132 Frontotemporal dementia and/or amytrophic lateral sclerosis 8 HP:0000708 PMID:23338750 PCS P HPO:probinson[2021-03-13] OMIM:619132 Frontotemporal dementia and/or amytrophic lateral sclerosis 8 HP:0033051 PMID:32666117 PCS 1/2 P HPO:probinson[2022-03-04] OMIM:619132 Frontotemporal dementia and/or amytrophic lateral sclerosis 8 HP:0000726 PMID:32666117;PMID:23338750 PCS 12/12 P HPO:probinson[2021-03-13];HPO:probinson[2021-03-13];HPO:probinson[2022-03-04] OMIM:619132 Frontotemporal dementia and/or amytrophic lateral sclerosis 8 HP:0011462 PMID:23338750 PCS 1/10 C HPO:probinson[2021-03-13] @@ -60438,6 +60801,31 @@ OMIM:607330 Lathosterolosis HP:0004823 PMID:17853487 PCS 1/3 P HPO:iea[2012- OMIM:607330 Lathosterolosis HP:0001510 PMID:17853487 PCS 2/2 P HPO:iea[2012-04-24] OMIM:607330 Lathosterolosis HP:0001433 PMID:2309789 PCS 1/3 P HPO:iea[2012-04-24] OMIM:607330 Lathosterolosis HP:0000347 PMID:12812989;PMID:12189593 PCS 2/3 P HPO:iea[2012-04-24] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0000341 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0002069 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0002188 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0002120 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0001252 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0001274 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0003593 PMID:32395830 PCS 1/1 C HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0012301 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0033725 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0007141 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0030043 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0007366 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0002119 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0025336 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0000252 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0002650 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0002133 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0001344 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0002750 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0031936 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0001263 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0004395 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0000007 PMID:32395830 PCS I HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0004349 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620200 Congenital disorder of glycosylation, type IIy HP:0000248 PMID:32395830 PCS 1/1 P HPO:probinson[2023-06-11] OMIM:300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness HP:0001419 PMID:16055928 PCS I HPO:probinson[2013-01-09] OMIM:300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness HP:0005376 PMID:16055928 PCS P HPO:probinson[2013-02-16] OMIM:300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness HP:0005101 PMID:16055928 PCS P HPO:probinson[2013-02-16] @@ -60894,6 +61282,12 @@ OMIM:170650 Periodontitis, aggressive, 1 HP:0006480 PMID:10662808 PCS P HPO OMIM:170650 Periodontitis, aggressive, 1 HP:0000007 PMID:10662808 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-09-02] OMIM:170650 Periodontitis, aggressive, 1 HP:0030816 PMID:10662808 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-02] OMIM:170650 Periodontitis, aggressive, 1 HP:0000972 PMID:10662808 PCS 0/4 P HPO:skoehler[2010-06-18];HPO:probinson[2022-09-02] +OMIM:620228 Retinitis pigmentosa 96, autosomal dominant HP:0001133 PMID:28549094 PCS 14/16 P HPO:probinson[2023-06-11] +OMIM:620228 Retinitis pigmentosa 96, autosomal dominant HP:0007737 PMID:28549094 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620228 Retinitis pigmentosa 96, autosomal dominant HP:0007663 PMID:28549094 PCS 17/18 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620228 Retinitis pigmentosa 96, autosomal dominant HP:0000510 PMID:28549094 PCS 18/18 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620228 Retinitis pigmentosa 96, autosomal dominant HP:0030329 PMID:28549094 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620228 Retinitis pigmentosa 96, autosomal dominant HP:0000006 PMID:28549094 PCS I HPO:probinson[2023-06-11] OMIM:615293 Myofibromatosis, infantile 2 HP:0020135 PMID:23731542 PCS P HPO:skoehler[2019-09-07];HPO:probinson[2019-09-07] OMIM:615293 Myofibromatosis, infantile 2 HP:0000006 PMID:23731542 PCS I HPO:skoehler[2013-08-18];HPO:probinson[2019-09-07] OMIM:188100 Thumb deformity HP:0009601 OMIM:188100 IEA P HPO:iea[2009-02-17] @@ -60943,11 +61337,11 @@ OMIM:300496 Autism susceptibility, X-linked 3 HP:0003144 OMIM:300496 IEA HP:00 OMIM:300496 Autism susceptibility, X-linked 3 HP:0011463 OMIM:300496 IEA C HPO:iea[2009-02-17] OMIM:300496 Autism susceptibility, X-linked 3 HP:0000717 OMIM:300496 TAS P HPO:iea[2009-02-17] OMIM:300496 Autism susceptibility, X-linked 3 HP:0000723 OMIM:300496 TAS P HPO:skoehler[2013-06-04] +OMIM:300496 Autism susceptibility, X-linked 3 HP:0000733 OMIM:300496 TAS P HPO:iea[2009-02-17] OMIM:300496 Autism susceptibility, X-linked 3 HP:0000758 OMIM:300496 IEA P HPO:iea[2009-02-17] OMIM:300496 Autism susceptibility, X-linked 3 HP:0001417 OMIM:300496 IEA I HPO:iea[2009-02-17] OMIM:300496 Autism susceptibility, X-linked 3 HP:0000721 OMIM:300496 IEA P HPO:iea[2009-02-17] OMIM:300496 Autism susceptibility, X-linked 3 HP:0001249 OMIM:300496 IEA P HPO:iea[2009-02-17] -OMIM:300496 Autism susceptibility, X-linked 3 HP:0000732 OMIM:300496 IEA P HPO:iea[2009-02-17] OMIM:301950 Branchial arch syndrome, X-linked HP:0000252 OMIM:301950 IEA P HPO:iea[2009-02-17] OMIM:301950 Branchial arch syndrome, X-linked HP:0000494 OMIM:301950 IEA P HPO:iea[2009-02-17] OMIM:301950 Branchial arch syndrome, X-linked HP:0000365 OMIM:301950 IEA P HPO:skoehler[2010-06-20] @@ -60961,6 +61355,7 @@ OMIM:301950 Branchial arch syndrome, X-linked HP:0000465 OMIM:301950 IEA P OMIM:301950 Branchial arch syndrome, X-linked HP:0001642 OMIM:301950 IEA P HPO:skoehler[2010-06-20] OMIM:301950 Branchial arch syndrome, X-linked HP:0000028 OMIM:301950 IEA P HPO:iea[2009-02-17] OMIM:301950 Branchial arch syndrome, X-linked HP:0000369 OMIM:301950 IEA P HPO:iea[2009-02-17] +OMIM:193520 Watson syndrome HP:0001067 OMIM:193520 IEA P HPO:iea[2009-02-17] OMIM:193520 Watson syndrome HP:0000286 PMID:8317503 PCS 2/3 P HPO:probinson[2022-04-24] OMIM:193520 Watson syndrome HP:0003577 PMID:8317503 PCS 3/3 C HPO:probinson[2022-04-24] OMIM:193520 Watson syndrome HP:0004322 OMIM:193520 IEA P HPO:iea[2009-02-17] @@ -61071,6 +61466,7 @@ OMIM:618760 Neurodevelopmental disorder with hypotonia and autistic features wit OMIM:618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements HP:0001263 PMID:30929742 PCS 5/5 P HPO:probinson[2020-04-22] OMIM:618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements HP:0003593 PMID:30929742 PCS C HPO:probinson[2020-04-22] OMIM:618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements HP:0002072 PMID:30929742 PCS 2/5 P HPO:probinson[2020-04-22] +OMIM:618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements HP:0000708 PMID:30929742 PCS 3/5 P HPO:probinson[2020-04-22] OMIM:618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements HP:0100704 PMID:30929742 PCS 3/5 P HPO:probinson[2020-04-22] OMIM:618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements HP:0032660 PMID:30929742 PCS 1/5 P HPO:probinson[2020-04-22] OMIM:618760 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements HP:0000729 PMID:30929742 PCS 5/5 P HPO:probinson[2020-04-22] @@ -61366,6 +61762,7 @@ OMIM:618774 CEBALID syndrome HP:0000341 PMID:31834374 PCS P HPO:probinson[2 OMIM:618774 CEBALID syndrome HP:0000365 PMID:31834374 PCS 16/20 P HPO:probinson[2020-05-09] OMIM:618774 CEBALID syndrome HP:0000486 PMID:31834374 PCS P HPO:probinson[2020-05-09] OMIM:618774 CEBALID syndrome HP:0000463 PMID:31839203;PMID:31834374 PCS 24/25 P HPO:probinson[2020-05-09] +OMIM:618774 CEBALID syndrome HP:0002167 PMID:31839203 PCS 3/3 P HPO:probinson[2020-05-09] OMIM:618774 CEBALID syndrome HP:0001250 PMID:31834374 PCS 6/21 P HPO:probinson[2020-05-09] OMIM:618774 CEBALID syndrome HP:0000262 PMID:31834374 PCS P HPO:probinson[2020-05-09] OMIM:618774 CEBALID syndrome HP:0003196 PMID:31839203 PCS 3/3 P HPO:probinson[2020-05-09] @@ -61553,6 +61950,7 @@ OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) HP:001 OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) HP:0031964 PMID:17921179 PCS 1/2 P HPO:probinson[2023-01-26] OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) HP:0000815 OMIM:271245 IEA P HPO:skoehler[2010-06-20] OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) HP:0000639 PMID:17921179 PCS 1/2 P HPO:skoehler[2010-06-18];HPO:probinson[2023-01-26] +OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) HP:0000817 PMID:17921179 PCS 1/2 P HPO:skoehler[2010-06-18];HPO:probinson[2023-01-26] OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) HP:0001328 OMIM:271245 IEA P HPO:skoehler[2010-06-18] OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) HP:0007366 OMIM:271245 TAS P HPO:skoehler[2017-07-13] OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) HP:0008278 PMID:17921179 PCS 1/2 P HPO:probinson[2023-01-26] @@ -62043,6 +62441,7 @@ OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency HP:0002194 PMID:11453975 PCS 1/1 P HPO:probinson[2020-09-13];HPO:probinson[2020-09-13] OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency HP:0002090 OMIM:613179 IEA P HPO:skoehler[2010-06-19] OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency HP:0033339 PMID:402573 PCS P HPO:probinson[2020-12-07] +OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency HP:0000708 OMIM:613179 TAS P HPO:skoehler[2012-10-17] OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency HP:0031381 PMID:11453975 PCS 1/1 P HPO:probinson[2020-09-13] OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency HP:0033340 PMID:402573 PCS P HPO:probinson[2020-12-07] OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency HP:0000007 PMID:11453975 PCS I HPO:skoehler[2010-06-19];HPO:probinson[2020-09-13] @@ -62599,6 +62998,7 @@ OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome HP:0001263 PMID:269868 OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome HP:0009909 PMID:26986877 PCS 1/6 P HPO:probinson[2022-08-20] OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome HP:0001182 PMID:26986877 PCS 2/6 P HPO:skoehler[2014-04-13];HPO:probinson[2022-08-20] OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome HP:0000426 PMID:26986877 PCS 1/6 P HPO:probinson[2022-08-20] +OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome HP:0000722 PMID:24462372 PCS 1/6 P HPO:probinson[2022-08-20] OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome HP:0000648 PMID:26986877 PCS 15/20 P HPO:skoehler[2015-12-30];HPO:probinson[2022-08-20] OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome HP:0000307 PMID:26986877 PCS 1/6 P HPO:probinson[2022-08-20] OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome HP:0000543 PMID:24462372 PCS 5/6 P HPO:skoehler[2014-04-13];HPO:probinson[2022-08-20] @@ -63180,6 +63580,7 @@ OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onse OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset HP:0001558 PMID:22101682 PCS HP:0011461 5/9 P HPO:skoehler[2012-10-17];HPO:probinson[2022-03-27] OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset HP:0001319 OMIM:614399 TAS P HPO:skoehler[2012-10-17] OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset HP:0003713 PMID:22101682 PCS 1/7 P HPO:probinson[2022-03-27] +OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset HP:0001611 OMIM:614399 TAS P HPO:skoehler[2012-10-17] OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset HP:0003458 PMID:22101682 PCS 6/7 P HPO:probinson[2022-03-27] OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset HP:0003557 PMID:22101682 PCS 6/7 P HPO:probinson[2022-03-27];HPO:probinson[2022-03-27] OMIM:617690 Ovarian dysgenesis 5 HP:0003621 PMID:25774885 PCS 3/4 C HPO:probinson[2023-02-17] @@ -63371,6 +63772,7 @@ OMIM:122470 Cornelia de Lange syndrome 1 HP:0005565 OMIM:122470 IEA P HPO:p OMIM:122470 Cornelia de Lange syndrome 1 HP:0000470 OMIM:122470 IEA P HPO:probinson[2009-02-17] OMIM:122470 Cornelia de Lange syndrome 1 HP:0002090 OMIM:122470 IEA P HPO:probinson[2009-02-17] OMIM:122470 Cornelia de Lange syndrome 1 HP:0005280 OMIM:122470 IEA P HPO:probinson[2009-02-17] +OMIM:122470 Cornelia de Lange syndrome 1 HP:0000708 OMIM:122470 IEA P HPO:probinson[2009-02-17] OMIM:122470 Cornelia de Lange syndrome 1 HP:0000508 OMIM:122470 IEA P HPO:probinson[2009-02-17] OMIM:122470 Cornelia de Lange syndrome 1 HP:0000107 OMIM:122470 TAS HP:0040283 P HPO:probinson[2009-02-17] OMIM:122470 Cornelia de Lange syndrome 1 HP:0100716 OMIM:122470 TAS P HPO:skoehler[2012-10-17] @@ -63491,6 +63893,7 @@ OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imp OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta HP:0001251 OMIM:615905 TAS P HPO:skoehler[2015-12-30] OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta HP:0012448 OMIM:615905 IEA P HPO:skoehler[2019-02-22] OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta HP:0000705 OMIM:615905 IEA P HPO:skoehler[2019-09-07] +OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta HP:0000817 PMID:24995870 PCS 2/8 P HPO:probinson[2023-01-30] OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta HP:0031165 OMIM:615905 TAS P HPO:skoehler[2017-07-13] OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta HP:0002509 PMID:24995870 PCS 5/7 P HPO:probinson[2023-01-30] OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta HP:0000668 OMIM:615905 TAS P HPO:skoehler[2015-12-30] @@ -63707,6 +64110,7 @@ OMIM:619695 Rauch-Steindl syndrome HP:0012450 PMID:30345613;PMID:31171569 PCS OMIM:619695 Rauch-Steindl syndrome HP:0011461 PMID:29892088;PMID:30345613;PMID:31171569 PCS 6/6 C HPO:probinson[2022-03-01] OMIM:619695 Rauch-Steindl syndrome HP:0004719 PMID:31171569 PCS 1/3 P HPO:probinson[2022-03-01] OMIM:619695 Rauch-Steindl syndrome HP:0000316 PMID:29760529;PMID:29892088;PMID:30345613 PCS 3/4 P HPO:probinson[2022-03-01] +OMIM:619695 Rauch-Steindl syndrome HP:0000733 PMID:30345613 PCS 1/1 P HPO:probinson[2022-03-01] OMIM:619695 Rauch-Steindl syndrome HP:0008897 PMID:31171569 PCS 2/3 P HPO:probinson[2022-03-01] OMIM:619695 Rauch-Steindl syndrome HP:0000752 PMID:30345613 PCS 1/1 P HPO:probinson[2022-03-01] OMIM:619695 Rauch-Steindl syndrome HP:0000411 PMID:29760529;PMID:30345613 PCS 2/2 P HPO:probinson[2022-03-01] @@ -63894,6 +64298,7 @@ OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0011968 OMIM:615656 TAS OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0001263 PMID:21187176 PCS P HPO:skoehler[2014-04-13];HPO:probinson[2022-12-11] OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0034392 PMID:21187176 PCS 1/7 P HPO:probinson[2022-12-11] OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0000729 PMID:21187176 PCS 1/7 P HPO:skoehler[2014-04-13];HPO:probinson[2022-12-11] +OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0000722 OMIM:615656 TAS P HPO:skoehler[2014-04-13] OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0000601 PMID:21187176 PCS 1/7 P HPO:probinson[2022-12-11] OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0000400 PMID:21187176 PCS 1/7 P HPO:probinson[2022-12-11] OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0034391 PMID:21187176 PCS 1/7 P HPO:probinson[2022-12-11] @@ -63904,6 +64309,7 @@ OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0001270 PMID:21187176 PCS OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0040082 OMIM:615656 TAS P HPO:skoehler[2014-11-27] OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0040079 PMID:21187176 PCS 1/7 P HPO:probinson[2022-12-11] OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0000739 PMID:21187176 PCS 1/7 P HPO:probinson[2022-12-11] +OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0000733 PMID:21187176 PCS 1/7 P HPO:probinson[2022-12-11] OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0000414 PMID:21187176 PCS 1/7 P HPO:probinson[2022-12-11] OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0000337 OMIM:615656 TAS P HPO:skoehler[2014-04-13] OMIM:615656 Chromosome 15q11.2 deletion syndrome HP:0001627 OMIM:615656 TAS P HPO:skoehler[2015-12-30] @@ -64151,7 +64557,9 @@ OMIM:300912 Mental retardation, X-linked 98 HP:0000020 PMID:26576034 PCS 1/1 OMIM:300912 Mental retardation, X-linked 98 HP:0012169 PMID:23615299 PCS 1/7 P HPO:probinson[2021-09-26] OMIM:300912 Mental retardation, X-linked 98 HP:0001508 PMID:25900396 PCS 1/2 P HPO:skoehler[2014-01-28];HPO:probinson[2021-09-26] OMIM:300912 Mental retardation, X-linked 98 HP:0012172 PMID:23615299 PCS 2/7 P HPO:probinson[2021-09-26] +OMIM:300912 Mental retardation, X-linked 98 HP:0000817 PMID:23615299 PCS 3/7 P HPO:skoehler[2014-01-28];HPO:probinson[2021-09-26] OMIM:300912 Mental retardation, X-linked 98 HP:0000739 PMID:23615299 PCS 1/7 P HPO:probinson[2021-09-26] +OMIM:300912 Mental retardation, X-linked 98 HP:0000733 PMID:26576034;PMID:23615299 PCS 4/8 P HPO:skoehler[2017-07-13];HPO:probinson[2021-09-26];HPO:probinson[2021-09-26] OMIM:300912 Mental retardation, X-linked 98 HP:0002714 PMID:23615299 PCS 1/7 P HPO:probinson[2021-09-26] OMIM:300912 Mental retardation, X-linked 98 HP:0000735 PMID:23615299 PCS 1/7 P HPO:probinson[2021-09-26] OMIM:300912 Mental retardation, X-linked 98 HP:0012171 PMID:23615299 PCS 1/7 P HPO:probinson[2021-09-26] @@ -64287,6 +64695,7 @@ OMIM:606170 Genitopatellar syndrome HP:0001631 OMIM:606170 IEA P HPO:iea[20 OMIM:606170 Genitopatellar syndrome HP:0000028 PMID:22265014 PCS 12/12 P HPO:iea[2009-02-17];HPO:probinson[2023-02-27] OMIM:606170 Genitopatellar syndrome HP:0006887 OMIM:606170 IEA P HPO:iea[2009-02-17] OMIM:606170 Genitopatellar syndrome HP:0000347 OMIM:606170 IEA P HPO:iea[2009-02-17] +OMIM:606170 Genitopatellar syndrome HP:0008823 OMIM:606170 IEA P HPO:iea[2009-02-17] OMIM:600501 ABCD syndrome HP:0001022 PMID:7778600 PCS 1/1 P HPO:probinson[2009-02-17];HPO:probinson[2022-06-11] OMIM:600501 Abcd syndrome HP:0003577 PMID:7778600 PCS 1/1 C HPO:probinson[2022-06-11] OMIM:600501 ABCD syndrome HP:0001520 PMID:7778600 PCS 1/1 P HPO:skoehler[2012-10-17];HPO:probinson[2022-06-11] @@ -64408,6 +64817,7 @@ OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolat OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity HP:0000252 OMIM:236250 IEA P HPO:iea[2009-02-17] OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity HP:0001297 OMIM:236250 IEA P HPO:iea[2009-02-17] OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity HP:0003401 OMIM:236250 IEA P HPO:iea[2009-02-17] +OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity HP:0000708 OMIM:236250 TAS P HPO:skoehler[2012-10-17] OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity HP:0001288 OMIM:236250 IEA P HPO:iea[2009-02-17] OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity HP:0002156 OMIM:236250 IEA P HPO:iea[2009-02-17] OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity HP:0001250 OMIM:236250 IEA P HPO:iea[2009-02-17] @@ -64965,6 +65375,7 @@ OMIM:608363 Chromosome 22q11.2 duplication syndrome HP:0000347 OMIM:608363 IEA OMIM:608363 Chromosome 22q11.2 duplication syndrome HP:0000369 OMIM:608363 IEA P HPO:skoehler[2010-06-19] OMIM:608363 Chromosome 22q11.2 duplication syndrome HP:0000457 OMIM:608363 IEA P HPO:skoehler[2010-06-20] OMIM:608363 Chromosome 22q11.2 duplication syndrome HP:0001249 OMIM:608363 TAS P HPO:skoehler[2012-10-17] +OMIM:608363 Chromosome 22q11.2 duplication syndrome HP:0001611 OMIM:608363 IEA P HPO:skoehler[2010-06-19] OMIM:618170 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures HP:0002465 PMID:30401461 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-03-21] OMIM:618170 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures HP:0002069 PMID:30100084 PCS 13/16 P HPO:probinson[2022-03-21];HPO:probinson[2022-03-21] OMIM:618170 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures HP:0000486 PMID:30401461 PCS 2/11 P HPO:skoehler[2019-02-15];HPO:probinson[2022-03-21] @@ -65961,6 +66372,7 @@ OMIM:619291 Dystonia 30 HP:0011463 PMID:32808683 PCS 2/18 C HPO:probinson[20 OMIM:619291 Dystonia 30 HP:0000718 PMID:32808683 PCS 1/19 P HPO:probinson[2021-05-29] OMIM:619291 Dystonia 30 HP:0011462 PMID:32808683 PCS 4/18 C HPO:probinson[2021-05-29];HPO:probinson[2021-05-29] OMIM:619291 Dystonia 30 HP:0002506 PMID:32808683 PCS 4/19 HP:0012825 P HPO:probinson[2021-05-29] +OMIM:619291 Dystonia 30 HP:0000722 PMID:32808683 PCS 1/19 P HPO:probinson[2021-05-29] OMIM:619291 Dystonia 30 HP:0007302 PMID:32808683 PCS 1/19 P HPO:probinson[2021-05-29] OMIM:619291 Dystonia 30 HP:0002505 PMID:32808683 PCS 3/19 P HPO:probinson[2021-05-29] OMIM:619291 Dystonia 30 HP:0000006 PMID:32808683 PCS I HPO:probinson[2021-05-29];HPO:probinson[2021-05-29] @@ -66056,6 +66468,7 @@ OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with mac OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly HP:0000718 PMID:32109419 IEA 3/9 P HPO:probinson[2020-05-12];HPO:probinson[2022-04-02] OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly HP:0012450 PMID:32109419 PCS 2/9 P HPO:probinson[2020-05-12];HPO:probinson[2022-04-02] OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly HP:0000316 PMID:32109419 PCS 1/7 P HPO:probinson[2020-05-12];HPO:probinson[2022-04-02] +OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly HP:0000733 PMID:32109419 PCS 4/9 P HPO:probinson[2020-05-12];HPO:probinson[2022-04-02] OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly HP:0008872 PMID:32109419 PCS 5/8 P HPO:probinson[2020-05-12];HPO:probinson[2020-05-12];HPO:probinson[2022-04-02] OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly HP:0000678 PMID:32109419 PCS 1/8 P HPO:probinson[2020-05-12];HPO:probinson[2022-04-02] OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly HP:0009765 PMID:32109419 PCS 2/7 P HPO:probinson[2020-05-12];HPO:probinson[2022-04-02] @@ -66090,6 +66503,7 @@ OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or w OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures HP:0001290 OMIM:613970 IEA P HPO:skoehler[2019-04-18] OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures HP:0002072 OMIM:613970 IEA P HPO:skoehler[2018-10-08] OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures HP:0100660 OMIM:613970 IEA P HPO:skoehler[2018-10-08] +OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures HP:0000708 PMID:20890276 PCS 6/6 P HPO:probinson[2013-08-10];HPO:probinson[2022-06-16] OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures HP:0000821 PMID:20890276 PCS 1/6 P HPO:probinson[2022-06-16] OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures HP:0001257 OMIM:613970 IEA P HPO:skoehler[2018-10-08] OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures HP:0001763 PMID:20890276 PCS 1/6 P HPO:probinson[2022-06-16] @@ -66436,6 +66850,7 @@ OMIM:619290 Mahvash disease HP:0005978 PMID:25695890 PCS 1/3 P HPO:probinson OMIM:619290 Mahvash disease HP:0002027 PMID:25695890 PCS 1/3 P HPO:probinson[2021-06-19];HPO:probinson[2021-06-19] OMIM:618830 Autism, susceptibility to, 20 HP:0001263 OMIM:618830 TAS P HPO:probinson[2020-06-27];HPO:probinson[2020-06-27] OMIM:618830 Autism, susceptibility to, 20 HP:0000729 OMIM:618830 TAS P HPO:probinson[2020-06-27];HPO:probinson[2020-06-27] +OMIM:618830 Autism, susceptibility to, 20 HP:0000722 OMIM:618830 TAS P HPO:probinson[2020-06-27];HPO:probinson[2020-06-27] OMIM:618830 Autism, susceptibility to, 20 HP:0000735 OMIM:618830 TAS P HPO:probinson[2020-06-27];HPO:probinson[2020-06-27] OMIM:618830 Autism, susceptibility to, 20 HP:0007018 OMIM:618830 TAS P HPO:probinson[2020-06-27];HPO:probinson[2020-06-27] OMIM:618830 Autism, susceptibility to, 20 HP:0000006 OMIM:618830 TAS I HPO:probinson[2020-06-27];HPO:probinson[2020-06-27] @@ -66745,6 +67160,7 @@ OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0000463 PMID:187840 OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0001156 PMID:18784092 PCS 1/21 P HPO:probinson[2022-11-08] OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0002121 PMID:18784092 PCS 1/21 P HPO:probinson[2022-11-08] OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0001669 PMID:18784092 PCS HP:0003577 1/21 P HPO:skoehler[2012-11-16];HPO:probinson[2022-11-08] +OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0000733 PMID:18784092 PCS 2/21 P HPO:probinson[2022-11-08] OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0000219 PMID:18784092 PCS 3/21 P HPO:probinson[2022-11-08] OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0000218 PMID:18784092 PCS 3/21 P HPO:probinson[2022-11-08] OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0000179 PMID:18784092 PCS 2/21 P HPO:probinson[2022-11-08] @@ -66810,6 +67226,7 @@ OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0010698 PMID:187840 OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0010695 PMID:18784092 PCS 1/21 P HPO:probinson[2022-11-08] OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0005280 PMID:18784092 PCS 5/21 P HPO:probinson[2022-11-08] OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0011304 PMID:18784092 PCS 1/21 P HPO:skoehler[2012-11-16];HPO:probinson[2022-11-08] +OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0000708 PMID:18784092 PCS 1/21 P HPO:probinson[2022-11-08] OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0100753 OMIM:612474 TAS P HPO:skoehler[2012-11-16] OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0000426 PMID:18784092 PCS 3/21 P HPO:probinson[2022-11-08] OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0000307 PMID:18784092 PCS 1/21 P HPO:probinson[2022-11-08] @@ -66835,6 +67252,7 @@ OMIM:103050 Adenylosuccinase deficiency HP:0040082 OMIM:103050 TAS HP:0040283 OMIM:103050 Adenylosuccinase deficiency HP:0000639 OMIM:103050 PCS P HPO:probinson[2012-03-12] OMIM:103050 Adenylosuccinase deficiency HP:0000319 OMIM:103050 PCS P HPO:probinson[2012-03-12] OMIM:103050 Adenylosuccinase deficiency HP:0000718 OMIM:103050 IEA P HPO:skoehler[2012-10-09] +OMIM:103050 Adenylosuccinase deficiency HP:0000817 PMID:18524658 PCS 5/7 P HPO:skoehler[2012-10-09];HPO:probinson[2023-01-31] OMIM:103050 Adenylosuccinase deficiency HP:0000717 OMIM:103050 IEA P HPO:skoehler[2009-02-17] OMIM:103050 Adenylosuccinase deficiency HP:0000219 OMIM:103050 PCS 20/20 P HPO:skoehler[2013-06-04];HPO:probinson[2012-03-12] OMIM:103050 Adenylosuccinase deficiency HP:0003429 PMID:18524658 PCS 5/7 P HPO:skoehler[2012-10-09];HPO:probinson[2023-01-31] @@ -67503,6 +67921,7 @@ OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, ep OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant HP:0012766 PMID:32738225 PCS 1/8 P HPO:probinson[2020-12-22] OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant HP:0000316 PMID:32738225 PCS 1/8 P HPO:probinson[2020-12-22] OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant HP:0000337 PMID:32738225 PCS 1/8 P HPO:probinson[2020-12-22] +OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant HP:0000733 PMID:32738225 PCS 2/8 P HPO:probinson[2020-12-22] OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant HP:0025336 PMID:32738225 PCS 5/6 P HPO:probinson[2020-12-22] OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant HP:0030084 PMID:32738225 PCS 2/8 P HPO:probinson[2020-12-22] OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant HP:0000278 PMID:32738225 PCS 1/8 P HPO:probinson[2020-12-22] @@ -67547,6 +67966,7 @@ OMIM:616389 Night blindness, congenital stationary, type 1G HP:0007642 PMID:264 OMIM:616389 Night blindness, congenital stationary, type 1G HP:0000505 PMID:22190596 PCS 0/4 P HPO:probinson[2022-04-12] OMIM:616389 Night blindness, congenital stationary, type 1G HP:0000543 PMID:26472407 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2022-04-12] OMIM:616389 Night blindness, congenital stationary, type 1G HP:0000510 PMID:26472407 PCS 1/1 P HPO:probinson[2022-04-12];HPO:probinson[2022-04-12] +OMIM:136570 Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included HP:0000708 OMIM:136570 IEA 9/16 P HPO:skoehler[2013-01-10] OMIM:136570 Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included HP:0000750 OMIM:136570 IEA HP:0040281 P HPO:skoehler[2013-01-10] OMIM:136570 Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included HP:0001250 OMIM:136570 IEA 8/22 P HPO:skoehler[2013-01-10] OMIM:136570 Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included HP:0001263 OMIM:136570 IEA HP:0040281 P HPO:skoehler[2013-01-09] @@ -68151,6 +68571,7 @@ OMIM:615643 Neurodegeneration with brain iron accumulation 6 HP:0002376 OMIM:61 OMIM:615643 Neurodegeneration with brain iron accumulation 6 HP:0031936 PMID:24360804 PCS 1/2 P HPO:probinson[2023-02-25] OMIM:615643 Neurodegeneration with brain iron accumulation 6 HP:0001260 PMID:24360804 PCS 2/2 P HPO:skoehler[2014-03-24];HPO:probinson[2023-02-25] OMIM:615643 Neurodegeneration with brain iron accumulation 6 HP:0001263 OMIM:615643 IEA P HPO:skoehler[2019-02-22] +OMIM:615643 Neurodegeneration with brain iron accumulation 6 HP:0000722 PMID:24360804 PCS 1/2 P HPO:skoehler[2014-03-24];HPO:probinson[2023-02-25] OMIM:615643 Neurodegeneration with brain iron accumulation 6 HP:0000007 PMID:24360804 PCS I HPO:skoehler[2014-03-24];HPO:probinson[2023-02-25] OMIM:615643 Neurodegeneration with brain iron accumulation 6 HP:0030051 PMID:24360804 PCS 2/2 P HPO:skoehler[2014-11-27];HPO:probinson[2023-02-25] OMIM:615643 Neurodegeneration with brain iron accumulation 6 HP:0002522 PMID:24360804 PCS 1/2 P HPO:probinson[2023-02-25] @@ -68263,6 +68684,7 @@ OMIM:617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction OMIM:617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction HP:0000508 PMID:29016863 PCS 11/14 P HPO:skoehler[2019-04-18];HPO:probinson[2023-03-19] OMIM:617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction HP:0000006 PMID:29016863 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2023-03-19] OMIM:617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction HP:0011469 PMID:29016863 PCS 5/7 P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-19] +OMIM:617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction HP:0001611 PMID:29016863 PCS 11/11 P HPO:probinson[2023-03-19] OMIM:608612 Mandibuloacral dysplasia with type B lipodystrophy HP:0003774 PMID:12913070 PCS 1/1 P HPO:probinson[2022-06-20] OMIM:608612 Mandibuloacral dysplasia with type B lipodystrophy HP:0001870 OMIM:608612 IEA P HPO:iea[2009-02-17] OMIM:608612 Mandibuloacral dysplasia with type B lipodystrophy HP:0005995 OMIM:608612 IEA P HPO:iea[2009-02-17] @@ -68484,28 +68906,29 @@ OMIM:618373 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderm OMIM:618373 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma HP:0005987 PMID:25315659 PCS 1/2 P HPO:skoehler[2019-04-18];HPO:probinson[2023-02-12] OMIM:611431 Legius syndrome HP:0000286 OMIM:611431 IEA P HPO:skoehler[2010-06-19] OMIM:611431 Legius syndrome HP:0001012 PMID:17704776 PCS 11/40 P HPO:skoehler[2010-06-19];HPO:probinson[2023-02-17] -OMIM:611431 Legius syndrome HP:0000494 OMIM:611431 IEA P HPO:skoehler[2010-06-19] -OMIM:611431 Legius syndrome HP:0001480 PMID:17704776 PCS 14/43 P HPO:probinson[2023-02-17] OMIM:611431 Legius syndrome HP:0001252 OMIM:611431 TAS P HPO:skoehler[2014-11-26] OMIM:611431 Legius syndrome HP:0002162 OMIM:611431 TAS P HPO:skoehler[2013-02-25] -OMIM:611431 Legius syndrome HP:0000470 OMIM:611431 TAS P HPO:skoehler[2013-02-25] -OMIM:611431 Legius syndrome HP:0034349 PMID:17704776 PCS 1/40 HP:0012825 P HPO:probinson[2023-02-17] OMIM:611431 Legius syndrome HP:0000957 PMID:17704776;PMID:19366998 PCS 62/62 P HPO:skoehler[2010-06-19];HP:probinson[2019-01-22];HPO:probinson[2023-02-17];HPO:probinson[2023-02-17] -OMIM:611431 Legius syndrome HP:0000508 OMIM:611431 IEA P HPO:skoehler[2010-06-19] OMIM:611431 Legius syndrome HP:0000316 OMIM:611431 IEA P HPO:skoehler[2010-06-19] OMIM:611431 Legius syndrome HP:0001328 OMIM:611431 IEA P HPO:skoehler[2010-06-19] -OMIM:611431 Legius syndrome HP:0000767 PMID:17704776 PCS 3/40 P HPO:probinson[2023-02-17] OMIM:611431 Legius syndrome HP:0000997 PMID:19366998 PCS 10/18 P HPO:skoehler[2010-06-19];HPO:probinson[2023-02-17] +OMIM:611431 Legius syndrome HP:0000218 OMIM:611431 IEA P HPO:skoehler[2010-06-19] +OMIM:611431 Legius syndrome HP:0000256 PMID:17704776;PMID:19366998 PCS 7/49 P HPO:skoehler[2010-06-20];HPO:probinson[2023-02-17];HPO:probinson[2023-02-17] +OMIM:611431 Legius syndrome HP:0000358 OMIM:611431 TAS P HPO:probinson[2023-02-17];HPO:probinson[2023-02-17] +OMIM:611431 Legius syndrome HP:0001067 OMIM:611431 IEA 0/18 P HPO:skoehler[2010-06-20];HPO:probinson[2023-02-17] +OMIM:611431 Legius syndrome HP:0000494 OMIM:611431 IEA P HPO:skoehler[2010-06-19] +OMIM:611431 Legius syndrome HP:0001480 PMID:17704776 PCS 14/43 P HPO:probinson[2023-02-17] +OMIM:611431 Legius syndrome HP:0000470 OMIM:611431 TAS P HPO:skoehler[2013-02-25] +OMIM:611431 Legius syndrome HP:0034349 PMID:17704776 PCS 1/40 HP:0012825 P HPO:probinson[2023-02-17] +OMIM:611431 Legius syndrome HP:0000508 OMIM:611431 IEA P HPO:skoehler[2010-06-19] +OMIM:611431 Legius syndrome HP:0000767 PMID:17704776 PCS 3/40 P HPO:probinson[2023-02-17] OMIM:611431 Legius syndrome HP:0002705 OMIM:611431 TAS P HPO:skoehler[2015-12-30] OMIM:611431 Legius syndrome HP:0030052 PMID:19366998 PCS 9/18 P HPO:probinson[2023-02-17] -OMIM:611431 Legius syndrome HP:0000218 OMIM:611431 IEA P HPO:skoehler[2010-06-19] OMIM:611431 Legius syndrome HP:0007018 PMID:17704776 PCS 2/40 P HPO:skoehler[2010-06-20];HPO:probinson[2023-02-17] -OMIM:611431 Legius syndrome HP:0000256 PMID:17704776;PMID:19366998 PCS 7/49 P HPO:skoehler[2010-06-20];HPO:probinson[2023-02-17];HPO:probinson[2023-02-17] OMIM:611431 Legius syndrome HP:0000006 PMID:17704776 PCS I HPO:skoehler[2010-06-19];HPO:probinson[2023-02-17] OMIM:611431 Legius syndrome HP:0000347 OMIM:611431 IEA P HPO:skoehler[2010-06-19] OMIM:611431 Legius syndrome HP:0000325 OMIM:611431 IEA P HPO:skoehler[2010-06-19] OMIM:611431 Legius syndrome HP:0000369 OMIM:611431 TAS P HPO:probinson[2023-02-17];HPO:probinson[2023-02-17] -OMIM:611431 Legius syndrome HP:0000358 OMIM:611431 TAS P HPO:probinson[2023-02-17];HPO:probinson[2023-02-17] OMIM:267750 Knobloch syndrome, type 1 HP:0000286 PMID:17546652;PMID:10942434 PCS 4/25 P HP:probinson[2022-03-12];HPO:probinson[2022-03-12];HPO:probinson[2022-03-12] OMIM:267750 Knobloch syndrome, type 1 HP:0001331 PMID:17546652 PCS 1/1 P HP:probinson[2022-03-12];HPO:probinson[2022-03-12] OMIM:267750 Knobloch syndrome, type 1 HP:0001132 PMID:19160445;PMID:10942434;PMID:27259167;PMID:17975799 PCS 11/33 P HPO:probinson[2022-03-12] @@ -68662,35 +69085,50 @@ OMIM:133540 Cockayne syndrome, type B HP:0000426 PMID:18446857 PCS 3/3 P HPO OMIM:133540 Cockayne syndrome, type B HP:0001511 PMID:18446857 PCS 3/3 P HPO:iea[2009-02-17];HPO:probinson[2022-04-05] OMIM:133540 Cockayne syndrome, type B HP:0000028 OMIM:133540 IEA P HPO:iea[2009-02-17] OMIM:133540 Cockayne syndrome, type B HP:0000303 OMIM:133540 IEA P HPO:iea[2009-02-17] -OMIM:304340 Pettigrew syndrome HP:0001250 OMIM:304340 TAS P HPO:skoehler[2014-08-24] +OMIM:304340 Pettigrew syndrome HP:0001256 PMID:17186471;PMID:17617514 PCS 6/21 P HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0002342 PMID:17186471 PCS 8/16 P HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0002684 PMID:17617514 PCS 1/5 P HPO:probinson[2023-06-08] OMIM:304340 Pettigrew syndrome HP:0001371 OMIM:304340 TAS P HPO:skoehler[2014-08-24] +OMIM:304340 Pettigrew syndrome HP:0001250 OMIM:304340 TAS P HPO:skoehler[2014-08-24] OMIM:304340 Pettigrew syndrome HP:0002066 OMIM:304340 TAS P HPO:skoehler[2014-08-24] -OMIM:304340 Pettigrew syndrome HP:0001252 OMIM:304340 TAS P HPO:skoehler[2014-11-26] +OMIM:304340 Pettigrew syndrome HP:0002187 PMID:17186471;PMID:17617514 PCS 4/21 P HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0001252 OMIM:304340;PMID:17617514 PCS 15/15 P HPO:probinson[2023-06-08];HPO:skoehler[2014-11-26] OMIM:304340 Pettigrew syndrome HP:0003593 OMIM:304340 TAS C HPO:skoehler[2015-12-30] -OMIM:304340 Pettigrew syndrome HP:0001290 OMIM:304340 TAS P HPO:skoehler[2017-07-13] +OMIM:304340 Pettigrew syndrome HP:0005450 PMID:17617514 PCS 1/5 P HPO:probinson[2023-06-08] OMIM:304340 Pettigrew syndrome HP:0000280 OMIM:304340 TAS P HPO:skoehler[2014-08-24] OMIM:304340 Pettigrew syndrome HP:0010864 OMIM:304340 TAS P HPO:skoehler[2015-12-30] +OMIM:304340 Pettigrew syndrome HP:0011463 PMID:17617514 PCS 1/5 C HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0000718 PMID:17186471;PMID:17617514 PCS 10/21 P HPO:probinson[2023-06-08] OMIM:304340 Pettigrew syndrome HP:0011220 OMIM:304340 TAS P HPO:skoehler[2014-08-24] OMIM:304340 Pettigrew syndrome HP:0012471 OMIM:304340 TAS P HPO:skoehler[2014-08-24] OMIM:304340 Pettigrew syndrome HP:0001305 OMIM:304340 TAS HP:0040283 P HPO:skoehler[2014-08-24] -OMIM:304340 Pettigrew syndrome HP:0000238 OMIM:304340 TAS HP:0040283 P HPO:skoehler[2014-08-24] -OMIM:304340 Pettigrew syndrome HP:0002119 OMIM:304340 TAS HP:0040283 P HPO:skoehler[2014-08-24] +OMIM:304340 Pettigrew syndrome HP:0000238 PMID:17617514 PCS 2/5 P HPO:skoehler[2014-08-24] +OMIM:304340 Pettigrew syndrome HP:0007663 PMID:17617514 PCS 1/5 P HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0002119 PMID:17617514 PCS 1/5 P HPO:skoehler[2014-08-24] +OMIM:304340 Pettigrew syndrome HP:0025116 PMID:17617514 PCS 1/5 P HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0012171 PMID:17617514 PCS 1/5 P HPO:probinson[2023-06-08] OMIM:304340 Pettigrew syndrome HP:0002514 OMIM:304340 TAS HP:0040283 P HPO:skoehler[2014-08-24] -OMIM:304340 Pettigrew syndrome HP:0001249 OMIM:304340 TAS HP:0012828 P HPO:skoehler[2014-08-24] OMIM:304340 Pettigrew syndrome HP:0001347 OMIM:304340 TAS P HPO:skoehler[2014-08-24] +OMIM:304340 Pettigrew syndrome HP:0003623 PMID:17617514 PCS 4/5 C HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0002410 PMID:17617514 PCS 2/5 P HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0002135 PMID:17617514 PCS 1/5 P HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0001320 PMID:17617514 PCS 1/5 P HPO:probinson[2023-06-08] OMIM:304340 Pettigrew syndrome HP:0000154 OMIM:304340 TAS P HPO:skoehler[2014-08-24] +OMIM:304340 Pettigrew syndrome HP:0000252 PMID:17186471 PCS 8/16 P HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0001344 PMID:17186471;PMID:17617514 PCS 10/21 P HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0000750 PMID:17617514 PCS 1/5 P HPO:probinson[2023-06-08] OMIM:304340 Pettigrew syndrome HP:0002650 OMIM:304340 TAS P HPO:skoehler[2014-08-24] -OMIM:304340 Pettigrew syndrome HP:0000276 OMIM:304340 TAS P HPO:skoehler[2014-08-24] OMIM:304340 Pettigrew syndrome HP:0001266 OMIM:304340 TAS P HPO:skoehler[2014-08-24] -OMIM:304340 Pettigrew syndrome HP:0002134 OMIM:304340 IEA P HPO:skoehler[2015-01-19] -OMIM:304340 Pettigrew syndrome HP:0005101 OMIM:304340 IEA P HPO:iea[2009-02-17] +OMIM:304340 Pettigrew syndrome HP:0031936 PMID:17186471;PMID:17617514 PCS 16/21 P HPO:probinson[2023-06-08] +OMIM:304340 Pettigrew syndrome HP:0000276 OMIM:304340 TAS P HPO:skoehler[2014-08-24] OMIM:304340 Pettigrew syndrome HP:0000490 OMIM:304340 TAS P HPO:skoehler[2014-08-24] -OMIM:304340 Pettigrew syndrome HP:0001263 OMIM:304340 TAS P HPO:skoehler[2014-08-24] +OMIM:304340 Pettigrew syndrome HP:0005101 OMIM:304340 IEA P HPO:iea[2009-02-17] +OMIM:304340 Pettigrew syndrome HP:0001263 PMID:17617514 PCS 5/5 P HPO:skoehler[2014-08-24] OMIM:304340 Pettigrew syndrome HP:0000407 OMIM:304340 IEA P HPO:iea[2009-02-17] -OMIM:304340 Pettigrew syndrome HP:0001419 OMIM:304340 TAS I HPO:skoehler[2015-12-30] +OMIM:304340 Pettigrew syndrome HP:0001419 PMID:17186471 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2023-06-08] OMIM:304340 Pettigrew syndrome HP:0000448 OMIM:304340 TAS P HPO:skoehler[2014-08-24] +OMIM:304340 Pettigrew syndrome HP:0000648 PMID:17617514 PCS 1/5 P HPO:probinson[2023-06-08] OMIM:304340 Pettigrew syndrome HP:0100716 OMIM:304340 TAS P HPO:skoehler[2014-08-24] -OMIM:304340 Pettigrew syndrome HP:0001417 OMIM:304340 IEA I HPO:iea[2009-02-17] OMIM:304340 Pettigrew syndrome HP:0001257 OMIM:304340 TAS P HPO:skoehler[2014-08-24] OMIM:304340 Pettigrew syndrome HP:0000303 OMIM:304340 TAS P HPO:skoehler[2014-08-24] OMIM:619694 Developmental delay with variable neurologic and brain abnormalities HP:0000483 PMID:32820033 PCS 1/10 P HPO:probinson[2022-03-20] @@ -69865,6 +70303,7 @@ OMIM:300867 Kabuki syndrome 2 HP:0000378 OMIM:300867 TAS HP:0040283 P HPO:sk OMIM:300867 Kabuki syndrome 2 HP:0000592 PMID:27302555 PCS 6/11 P HP:probinson[2019-01-20] OMIM:300867 Kabuki syndrome 2 HP:0000196 PMID:23913813 PCS 1/4 P HP:probinson[2019-01-20] OMIM:300867 Kabuki syndrome 2 HP:0001680 PMID:33674768 TAS 8/60 P HPO:skoehler[2012-10-16];HPO:probinson[2021-09-13] +OMIM:300867 Kabuki syndrome 2 HP:0000708 OMIM:300867 TAS P HPO:skoehler[2012-10-16] OMIM:300867 Kabuki syndrome 2 HP:0000668 PMID:23913813 PCS 2/4 P HPO:skoehler[2013-03-08];HP:probinson[2019-01-20] OMIM:300867 Kabuki syndrome 2 HP:0001998 PMID:27302555 PCS HP:0003623 5/10 P HP:probinson[2019-01-20] OMIM:300867 Kabuki syndrome 2 HP:0009237 PMID:23913813 PCS 1/4 P HP:probinson[2019-01-20] @@ -69879,49 +70318,51 @@ OMIM:610883 Potocki-Lupski syndrome HP:0002463 PMID:17357070 PCS P HPO:iea[ OMIM:610883 Potocki-Lupski syndrome HP:0000365 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0001256 OMIM:610883 TAS P HPO:skoehler[2012-10-17] OMIM:610883 Potocki-Lupski syndrome HP:0004322 PMID:17357070 PCS P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0000540 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0000243 OMIM:610883 TAS P HPO:skoehler[2012-10-17] OMIM:610883 Potocki-Lupski syndrome HP:0001250 PMID:17357070 PCS P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0002360 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0002020 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0001290 PMID:17357070 PCS HP:0003593 P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0005274 PMID:17357070 PCS P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0010863 PMID:17357070 PCS P HPO:iea[2012-03-01] -OMIM:610883 Potocki-Lupski syndrome HP:0012448 OMIM:610883 TAS P HPO:skoehler[2013-11-28] OMIM:610883 Potocki-Lupski syndrome HP:0002381 PMID:17357070 PCS P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0012210 PMID:17357070 PCS P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0001508 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0000319 OMIM:610883 TAS P HPO:skoehler[2012-10-17] OMIM:610883 Potocki-Lupski syndrome HP:0000717 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0000316 PMID:17357070 PCS P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0008872 PMID:17357070 PCS P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0000337 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0000678 OMIM:610883 TAS P HPO:skoehler[2012-10-17] -OMIM:610883 Potocki-Lupski syndrome HP:0001626 PMID:17357070 PCS P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0000218 OMIM:610883 TAS P HPO:skoehler[2012-10-17] OMIM:610883 Potocki-Lupski syndrome HP:0000752 OMIM:610883 TAS P HPO:skoehler[2012-10-17] OMIM:610883 Potocki-Lupski syndrome HP:0003745 OMIM:610883 TAS I HPO:iea[2018-03-13] -OMIM:610883 Potocki-Lupski syndrome HP:0000154 OMIM:610883 TAS P HPO:skoehler[2012-10-17] OMIM:610883 Potocki-Lupski syndrome HP:0000494 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0000252 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0002474 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0002353 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0002079 OMIM:610883 TAS P HPO:skoehler[2012-10-17] +OMIM:610883 Potocki-Lupski syndrome HP:0001263 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0000689 OMIM:610883 TAS P HPO:skoehler[2012-10-17] +OMIM:610883 Potocki-Lupski syndrome HP:0000325 PMID:17357070 PCS HP:0003593 P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0001655 OMIM:610883 TAS P HPO:skoehler[2012-10-17] +OMIM:610883 Potocki-Lupski syndrome HP:0000540 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0002360 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0005274 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0010863 PMID:17357070 PCS P HPO:iea[2012-03-01] +OMIM:610883 Potocki-Lupski syndrome HP:0012448 OMIM:610883 TAS P HPO:skoehler[2013-11-28] +OMIM:610883 Potocki-Lupski syndrome HP:0012210 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0001508 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0000817 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0008872 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0000733 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0000337 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0001626 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:610883 Potocki-Lupski syndrome HP:0000218 OMIM:610883 TAS P HPO:skoehler[2012-10-17] +OMIM:610883 Potocki-Lupski syndrome HP:0000154 OMIM:610883 TAS P HPO:skoehler[2012-10-17] OMIM:610883 Potocki-Lupski syndrome HP:0002650 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0003146 PMID:17357070 PCS P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0002079 OMIM:610883 TAS P HPO:skoehler[2012-10-17] OMIM:610883 Potocki-Lupski syndrome HP:0002011 PMID:17357070 PCS P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0001263 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0010535 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0001518 PMID:17357070 PCS P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0200136 OMIM:610883 TAS P HPO:skoehler[2013-06-12] -OMIM:610883 Potocki-Lupski syndrome HP:0000689 OMIM:610883 TAS P HPO:skoehler[2012-10-17] OMIM:610883 Potocki-Lupski syndrome HP:0000821 OMIM:610883 TAS HP:0040283 P HPO:skoehler[2012-11-18] OMIM:610883 Potocki-Lupski syndrome HP:0001631 OMIM:610883 TAS P HPO:skoehler[2012-10-17] -OMIM:610883 Potocki-Lupski syndrome HP:0000325 PMID:17357070 PCS HP:0003593 P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0000303 PMID:17357070 PCS HP:0003593 P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0000303 PMID:17357070 PCS HP:0003584 P HPO:iea[2010-09-09] OMIM:610883 Potocki-Lupski syndrome HP:0000347 PMID:17357070 PCS HP:0003593 P HPO:iea[2010-09-09] -OMIM:610883 Potocki-Lupski syndrome HP:0001655 OMIM:610883 TAS P HPO:skoehler[2012-10-17] OMIM:275220 Tibial hemimelia HP:0000924 OMIM:275220 IEA P HPO:iea[2009-02-17] OMIM:275220 Tibial hemimelia HP:0000007 OMIM:275220 IEA I HPO:iea[2009-02-17] OMIM:275220 Tibial hemimelia HP:0009556 OMIM:275220 TAS P HPO:skoehler[2013-10-22] @@ -70088,6 +70529,15 @@ OMIM:244200 Hypogonadotropic hypogonadism 3 with or without anosmia HP:0000006 OMIM:244200 Hypogonadotropic hypogonadism 3 with or without anosmia HP:0000204 OMIM:244200 IEA P HPO:iea[2009-02-17] OMIM:244200 Hypogonadotropic hypogonadism 3 with or without anosmia HP:0000028 PMID:18559922 PCS 2/8 P HPO:skoehler[2014-11-26];HPO:probinson[2022-09-12] OMIM:244200 Hypogonadotropic hypogonadism 3 with or without anosmia HP:0000786 OMIM:244200 TAS P HPO:skoehler[2014-11-26] +OMIM:620203 Cardiomyopathy, dilated, 2H HP:0001684 PMID:31461301 PCS 1/2 P HPO:probinson[2023-06-11] +OMIM:620203 Cardiomyopathy, dilated, 2H HP:0011968 PMID:31461301 PCS 1/1 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620203 Cardiomyopathy, dilated, 2H HP:0000007 PMID:31461301 PCS I HPO:probinson[2023-06-11] +OMIM:620203 Cardiomyopathy, dilated, 2H HP:0006543 PMID:31461301 PCS 1/2 P HPO:probinson[2023-06-11] +OMIM:620203 Cardiomyopathy, dilated, 2H HP:0012664 PMID:31461301 PCS 2/2 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620203 Cardiomyopathy, dilated, 2H HP:0003811 PMID:31461301 PCS 2/2 C HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620203 Cardiomyopathy, dilated, 2H HP:0002789 PMID:31461301 PCS 2/2 P HPO:probinson[2023-06-11] +OMIM:620203 Cardiomyopathy, dilated, 2H HP:0003623 PMID:31461301 PCS 2/2 C HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620203 Cardiomyopathy, dilated, 2H HP:0011623 PMID:31461301 PCS 2/2 P HPO:probinson[2023-06-11] OMIM:616969 Deafness, autosomal dominant 66 NOT HP:0001751 PMID:26197441 IEA P HPO:probinson[2020-09-20] OMIM:616969 Deafness, autosomal dominant 66 HP:0000407 PMID:26197441 PCS 11/11 P HPO:probinson[2017-06-25];HPO:probinson[2020-09-20] OMIM:616969 Deafness, autosomal dominant 66 HP:0011462 PMID:26197441 PCS C HPO:probinson[2020-09-20] @@ -70686,11 +71136,11 @@ OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0011463 OMIM:300495 IEA OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0000729 PMID:14963808;PMID:12669065 PCS 4/10 P HPO:probinson[2021-09-25] OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0000723 OMIM:300495 TAS P HPO:skoehler[2013-06-04] OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0001426 OMIM:300495 IEA I HPO:iea[2009-02-17] +OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0000733 OMIM:300495 TAS P HPO:skoehler[2009-02-17] OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0000758 OMIM:300495 TAS P HPO:skoehler[2009-02-17] OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0001417 PMID:12669065 PCS I HPO:iea[2009-02-17];HPO:probinson[2021-09-25] OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0003745 OMIM:300495 IEA I HPO:iea[2009-02-17] OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0001357 PMID:14963808 PCS 2/5 P HPO:probinson[2021-09-25] -OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0000732 OMIM:300495 IEA P HPO:iea[2009-02-17] OMIM:300495 Autism, susceptibility to, X-linked 2 HP:0000721 OMIM:300495 IEA P HPO:iea[2009-02-17] OMIM:600138 Retinitis pigmentosa 11 HP:0001133 PMID:20939871 PCS P HP:probinson[2019-03-01] OMIM:600138 Retinitis pigmentosa 11 HP:0007737 PMID:17325180 PCS P HP:probinson[2019-03-01] @@ -70972,6 +71422,7 @@ OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulti OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold HP:0025195 PMID:28343630 PCS 1/14 P HPO:probinson[2022-12-15] OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold HP:0000729 PMID:28343630 PCS 4/14 P HPO:skoehler[2017-07-13];HPO:probinson[2022-12-15] OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold HP:0010780 PMID:28343630 PCS 7/7 P HPO:probinson[2022-12-15] +OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold HP:0000722 PMID:28343630 PCS 1/14 P HPO:skoehler[2017-07-13];HPO:probinson[2022-12-15] OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold HP:0200055 PMID:28343630 PCS 10/11 P HPO:skoehler[2017-07-13];HPO:probinson[2022-12-15] OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold HP:0007018 PMID:28343630 PCS 1/14 P HPO:skoehler[2017-07-13];HPO:probinson[2022-12-15] OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold HP:0000006 PMID:28343630 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2022-12-15] @@ -71206,6 +71657,7 @@ OMIM:601559 Stuve-Wiedemann syndrome HP:0000883 OMIM:601559 TAS P HPO:iea[2 OMIM:601559 Stuve-Wiedemann syndrome HP:0002104 OMIM:601559 TAS P HPO:probinson[2009-02-17] OMIM:601559 Stuve-Wiedemann syndrome HP:0000369 PMID:24988918 PCS 6/6 P HPO:iea[2009-02-17];HPO:probinson[2022-04-19] OMIM:601559 Stuve-Wiedemann syndrome HP:0000963 OMIM:601559 TAS P HPO:probinson[2009-02-17] +OMIM:601559 Stuve-Wiedemann syndrome HP:0001611 OMIM:601559 TAS P HPO:probinson[2015-03-01] OMIM:601559 Stuve-Wiedemann syndrome HP:0004964 OMIM:601559 TAS P HPO:probinson[2009-02-17] OMIM:601559 Stuve-Wiedemann syndrome HP:0003015 OMIM:601559 TAS P HPO:probinson[2009-02-17] OMIM:601559 Stuve-Wiedemann syndrome HP:0003577 PMID:24988918 PCS 6/6 C HPO:probinson[2022-04-19] @@ -71290,6 +71742,7 @@ OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavior OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities HP:0000729 PMID:33824500 PCS 2/17 P HPO:probinson[2021-10-16] OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities HP:0000718 PMID:33824500 PCS 6/17 P HPO:probinson[2021-10-16] OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities HP:0000007 PMID:33824500 PCS I HPO:probinson[2021-10-16];HPO:probinson[2021-10-16] +OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities HP:0000733 PMID:33824500 PCS 4/17 P HPO:probinson[2021-10-16] OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities HP:0000238 PMID:33824500 PCS 2/17 P HPO:probinson[2021-10-16] OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities HP:0020045 PMID:33824500 PCS 1/17 P HPO:probinson[2021-10-16] OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities HP:0000648 PMID:33824500 PCS 1/17 P HPO:probinson[2021-10-16] @@ -71481,6 +71934,7 @@ OMIM:613161 Beta-ureidopropionase deficiency HP:0002133 PMID:15385443 PCS 1/4 OMIM:613161 Beta-ureidopropionase deficiency HP:0002650 PMID:15385443 PCS 1/4 P HPO:skoehler[2010-06-20];HPO:probinson[2022-11-28] OMIM:613161 Beta-ureidopropionase deficiency HP:0002188 PMID:15385443 PCS 1/4 P HPO:skoehler[2010-06-20];HPO:probinson[2022-11-28] OMIM:613161 Beta-ureidopropionase deficiency HP:0002023 OMIM:613161 IEA P HPO:skoehler[2010-06-20];HPO:probinson[2022-11-28] +OMIM:613161 Beta-ureidopropionase deficiency HP:0002167 OMIM:613161 IEA P HPO:skoehler[2010-06-20] OMIM:613161 Beta-ureidopropionase deficiency HP:0001332 PMID:15385443 PCS 1/4 P HPO:skoehler[2010-06-20];HPO:probinson[2022-11-28] OMIM:613161 Beta-ureidopropionase deficiency HP:0001250 PMID:15385443 PCS 1/4 P HPO:skoehler[2012-07-25];HPO:probinson[2022-11-28] OMIM:613161 Beta-ureidopropionase deficiency HP:0002151 PMID:15385443 PCS 1/4 P HPO:probinson[2022-11-28] @@ -71531,6 +71985,7 @@ OMIM:615510 Alacrima, achalasia, and mental retardation syndrome HP:0002643 PMI OMIM:615510 Alacrima, achalasia, and mental retardation syndrome HP:0000325 PMID:29593478 PCS 2/2 P HP:probinson[2022-03-05] OMIM:615510 Alacrima, achalasia, and mental retardation syndrome HP:0000522 PMID:24035193;PMID:29593478 PCS 15/15 P HPO:skoehler[2014-01-28];HPO:probinson[2022-03-05];HP:probinson[2022-03-05] OMIM:615510 Alacrima, achalasia, and mental retardation syndrome HP:0000962 PMID:24035193 PCS 3/11 P HPO:skoehler[2014-01-28];HPO:probinson[2022-03-05] +OMIM:615510 Alacrima, achalasia, and mental retardation syndrome HP:0001611 PMID:24035193;PMID:29593478 PCS 4/12 P HPO:skoehler[2014-01-28];HPO:probinson[2022-03-05];HP:probinson[2022-03-05] OMIM:618752 Neutropenia, severe congenital, 8, autosomal dominant HP:0004322 PMID:28972538 IEA 2/3 P HPO:probinson[2020-04-06] OMIM:618752 Neutropenia, severe congenital, 8, autosomal dominant HP:0001738 PMID:28972538 PCS 2/3 P HPO:probinson[2020-04-06] OMIM:618752 Neutropenia, severe congenital, 8, autosomal dominant HP:0001263 PMID:28972538 PCS P HPO:probinson[2020-04-06] @@ -71793,6 +72248,17 @@ OMIM:616780 Oocyte maturation defect 2 HP:0031516 PMID:26789871;OMIM:616780 PCS OMIM:616780 Oocyte maturation defect 2 HP:0008222 PMID:27273344 PCS P HPO:probinson[2017-06-18] OMIM:616780 Oocyte maturation defect 2 HP:0000007 OMIM:616780 TAS I HPO:skoehler[2017-07-13] OMIM:616780 Oocyte maturation defect 2 HP:0000006 OMIM:616780 TAS I HPO:skoehler[2017-07-13] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0006380 PMID:35789258 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0011463 PMID:35789258 PCS 1/1 C HPO:probinson[2023-06-16] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0030431 PMID:35789258 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0003273 PMID:35789258 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0012191 PMID:35789258 PCS HP:0025708 1/1 P HPO:probinson[2023-06-16] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0006466 PMID:35789258 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0008445 PMID:35789258 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0008940 PMID:35789258 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0002953 PMID:35789258 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0004349 PMID:35789258 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620232 Joint contracture, osteochondromas, and B-cell lymphoma HP:0030080 PMID:35789258 PCS HP:0025709 1/1 P HPO:probinson[2023-06-16] OMIM:613808 Ciliary dyskinesia, primary, 15 HP:0031417 PMID:23255504 PCS 31/34 HP:0011010 P HPO:probinson[2021-05-09] OMIM:613808 Ciliary dyskinesia, primary, 15 HP:0001696 PMID:21131974 PCS HP:0003577 11/16 P HPO:probinson[2013-08-10];HPO:probinson[2020-07-24] OMIM:613808 Ciliary dyskinesia, primary, 15 HP:0002110 PMID:23255504 PCS 17/33 P HPO:probinson[2013-08-10];HPO:probinson[2021-05-09] @@ -72248,11 +72714,13 @@ OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal deme OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0002015 OMIM:612069 TAS P HPO:skoehler[2012-10-17] OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0003487 OMIM:612069 TAS P HPO:skoehler[2012-10-17] OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0002145 OMIM:612069 IEA P HPO:skoehler[2018-10-08] +OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0030223 OMIM:612069 TAS P HPO:skoehler[2015-01-20] OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0001260 OMIM:612069 TAS P HPO:skoehler[2012-10-17] OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0003584 PMID:18309045 PCS 3/3 C HPO:probinson[2022-11-08] OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0000734 OMIM:612069 TAS P HPO:skoehler[2012-10-17] OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0000712 OMIM:612069 TAS P HPO:skoehler[2012-10-17] OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0007354 PMID:18309045 PCS HP:0003584 3/3 P HPO:skoehler[2015-01-19];HPO:probinson[2022-11-08] +OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0000733 OMIM:612069 TAS P HPO:skoehler[2012-10-17] OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0002747 OMIM:612069 TAS P HPO:skoehler[2012-10-17] OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0001324 OMIM:612069 TAS P HPO:skoehler[2012-10-17] OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia HP:0000741 OMIM:612069 TAS P HPO:skoehler[2012-10-17] @@ -72311,6 +72779,7 @@ OMIM:300842 Mcleod syndrome HP:0002072 PMID:11761473 PCS 18/19 P HPO:probins OMIM:300842 Mcleod syndrome HP:0030948 PMID:11761473 PCS 4/12 P HPO:probinson[2022-03-28] OMIM:300842 Mcleod syndrome HP:0100660 OMIM:300842 IEA P HPO:skoehler[2018-10-08] OMIM:300842 Mcleod syndrome HP:0012046 PMID:11761473 PCS 8/21 P HPO:probinson[2022-03-28] +OMIM:300842 Mcleod syndrome HP:0000722 PMID:11761473 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2022-03-28] OMIM:300842 Mcleod syndrome HP:0001638 PMID:11761473 PCS 4/22 P HPO:skoehler[2013-01-11];HPO:probinson[2022-03-28] OMIM:300842 Mcleod syndrome HP:0001417 PMID:11761473 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2022-03-28] OMIM:300842 Mcleod syndrome HP:0003438 PMID:11761473 PCS 18/20 P HPO:probinson[2022-03-28] @@ -72683,9 +73152,14 @@ OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain a OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities HP:0007359 PMID:35830857 PCS 11/16 P HPO:probinson[2022-09-05] OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities HP:0000028 PMID:35830857 PCS 3/10 P HPO:probinson[2022-09-05] OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities HP:0006821 PMID:35830857 PCS 1/14 P HPO:probinson[2022-09-05] -OMIM:608970 Macular dystrophy, patterned, 2 HP:0008001 OMIM:608970 IEA P HPO:skoehler[2018-10-08] -OMIM:608970 Macular dystrophy, patterned, 2 HP:0011510 OMIM:608970 IEA P HPO:skoehler[2018-10-08] -OMIM:608970 Macular dystrophy, patterned, 2 HP:0000006 OMIM:608970 TAS I HPO:skoehler[2017-07-13] +OMIM:608970 Macular dystrophy, butterfly-shaped pigmentary, 2 HP:0003621 PMID:26691986 PCS 1/9 C HPO:probinson[2023-06-09] +OMIM:608970 Macular dystrophy, butterfly-shaped pigmentary, 2 HP:0003596 PMID:26691986 PCS 7/9 C HPO:probinson[2023-06-09] +OMIM:608970 Macular dystrophy, butterfly-shaped pigmentary, 2 HP:0008001 PMID:26691986 PCS 3/14 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-09] +OMIM:608970 Macular dystrophy, butterfly-shaped pigmentary, 2 HP:0011462 PMID:26691986 PCS 1/9 C HPO:probinson[2023-06-09] +OMIM:608970 Macular dystrophy, butterfly-shaped pigmentary, 2 HP:0007663 PMID:26691986 PCS 6/9 P HPO:probinson[2023-06-09] +OMIM:608970 Macular dystrophy, butterfly-shaped pigmentary, 2 HP:0011510 OMIM:608970 IEA P HPO:skoehler[2018-10-08] +OMIM:608970 Macular dystrophy, butterfly-shaped pigmentary, 2 HP:0007963 PMID:26691986 PCS 11/14 P HPO:probinson[2023-06-09] +OMIM:608970 Macular dystrophy, butterfly-shaped pigmentary, 2 HP:0000006 PMID:26691986 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] OMIM:606785 Crigler-najjar syndrome, type II HP:0008282 OMIM:606785 TAS P HPO:probinson[2009-02-17] OMIM:606785 Crigler-najjar syndrome, type II HP:0000007 OMIM:606785 IEA I HPO:iea[2009-02-17] OMIM:606785 Crigler-najjar syndrome, type II NOT HP:0002910 OMIM:606785 TAS P HPO:probinson[2012-07-20] @@ -73253,6 +73727,24 @@ OMIM:147421 Inclusion body myositis HP:0003701 OMIM:147421 TAS P HPO:iea[20 OMIM:147421 Inclusion body myositis HP:0000006 OMIM:147421 IEA I HPO:iea[2009-02-17] OMIM:147421 Inclusion body myositis HP:0003677 OMIM:147421 TAS C HPO:iea[2009-02-17] OMIM:147421 Inclusion body myositis HP:0009071 OMIM:147421 TAS P HPO:iea[2009-02-17] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0000286 PMID:16630169 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0000561 PMID:16630169 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0003577 PMID:16501574;PMID:16630169 PCS 6/6 C HPO:probinson[2023-06-10];HPO:probinson[2023-06-10];HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0000670 PMID:16501574 PCS 4/4 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0007925 PMID:16501574;PMID:16630169 PCS 8/9 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0000365 PMID:16630169 PCS 0/3 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0011968 PMID:16630169 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0001092 PMID:16501574;PMID:16630169 PCS 7/7 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0008551 PMID:16630169 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0006297 PMID:16630169 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0000217 PMID:16630169 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0009944 PMID:16501574 PCS 4/4 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0000565 PMID:16630169 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0000378 PMID:16501574;PMID:16630169 PCS 4/7 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0009778 PMID:16630169 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0000006 PMID:16501574 PCS I HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0000687 PMID:16630169 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:620193 Lacrimoauriculodentodigital syndrome-3 HP:0000522 PMID:16501574 PCS 4/4 P HPO:probinson[2023-06-10] OMIM:619712 Spermatogenic failure 65 HP:0033393 PMID:34932939 PCS 6/6 P HPO:probinson[2022-02-24] OMIM:619712 Spermatogenic failure 65 HP:0034011 PMID:34932939 PCS 8/8 P HPO:probinson[2022-02-24] OMIM:619712 Spermatogenic failure 65 HP:0032560 PMID:34932939 PCS 5/6 P HPO:probinson[2022-02-24] @@ -73545,6 +74037,7 @@ OMIM:617065 Epileptic encephalopathy, early infantile, 40 HP:0012736 PMID:26486 OMIM:617065 Epileptic encephalopathy, early infantile, 40 HP:0033258 PMID:26486472 PCS 1/3 P HPO:probinson[2022-09-27] OMIM:617065 Epileptic encephalopathy, early infantile, 40 HP:0033363 PMID:26486472 PCS 2/3 P HPO:probinson[2022-09-27] OMIM:617065 Epileptic encephalopathy, early infantile, 40 HP:0001518 PMID:26486472 PCS 2/3 P HPO:probinson[2022-09-27] +OMIM:617065 Epileptic encephalopathy, early infantile, 40 HP:0000817 PMID:26486472 PCS 1/3 P HPO:probinson[2022-09-27] OMIM:617065 Epileptic encephalopathy, early infantile, 40 HP:0000007 PMID:26486472 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2022-09-27] OMIM:617065 Epileptic encephalopathy, early infantile, 40 HP:0200134 PMID:26486472 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-27] OMIM:617065 Epileptic encephalopathy, early infantile, 40 HP:0001511 PMID:26486472 PCS 1/3 P HPO:probinson[2022-09-27] @@ -73630,46 +74123,48 @@ OMIM:618430 Developmental delay with variable intellectual impairment and behavi OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001256 PMID:27436265 PCS 2/2 P HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001250 PMID:27436265 PCS 1/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0003196 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002360 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001252 PMID:27436265 PCS 2/2 P HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001251 PMID:27436265 PCS 1/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0003593 PMID:27436265 PCS 2/2 C HPO:probinson[2022-12-03] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001270 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000718 PMID:27436265 PCS 1/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000739 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000414 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000219 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002714 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000752 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002019 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000256 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000358 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000098 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000750 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002650 PMID:27436265 PCS 1/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0031936 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000276 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000771 PMID:27436265 PCS 1/2 P HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0011968 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000194 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000490 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001263 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0003186 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0011800 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002370 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001182 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0005280 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000729 PMID:27436265 PCS 1/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000348 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000722 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0004209 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002007 OMIM:618430 IEA P HPO:skoehler[2019-09-07] -OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001357 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0005616 PMID:27436265 PCS 1/1 P HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001852 PMID:27436265 PCS 1/2 P HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001257 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000006 PMID:25228304 PCS I HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000248 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000369 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002360 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001270 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000739 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000414 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000733 PMID:27436265 PCS 1/2 P HPO:probinson[2022-12-03] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000219 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002714 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000256 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000750 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002650 PMID:27436265 PCS 1/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0031936 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000276 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000194 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0003186 PMID:27436265 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-03] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002370 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0005280 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000348 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0002007 OMIM:618430 IEA P HPO:skoehler[2019-09-07] +OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001357 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0000545 OMIM:618430 IEA P HPO:skoehler[2019-09-07] OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities HP:0001513 OMIM:618430 IEA HP:0040284 P HPO:skoehler[2019-09-07] OMIM:156510 Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly HP:0003015 OMIM:156510 TAS P HPO:probinson[2009-02-17] @@ -73931,6 +74426,7 @@ OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcep OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature HP:0002240 PMID:30526862 PCS 1/6 P HPO:probinson[2022-06-19] OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature HP:0001270 PMID:30526862 PCS 3/6 P HPO:probinson[2022-06-19] OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature HP:0012444 PMID:30526862 PCS 1/6 P HPO:probinson[2022-06-19] +OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature HP:0000733 PMID:30778726 PCS 1/3 P HPO:probinson[2022-06-19] OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature HP:0000736 PMID:30778726 PCS 1/3 P HPO:probinson[2022-06-19] OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature HP:0002119 PMID:30526862 PCS 1/2 P HPO:probinson[2022-06-19] OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature HP:0000218 PMID:30778726 PCS 1/3 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-19] @@ -74649,6 +75145,7 @@ OMIM:612337 Intellectual developmental disorder, autosomal dominant 22 HP:00015 OMIM:612337 Intellectual developmental disorder, autosomal dominant 22 HP:0000347 OMIM:612337 TAS P HPO:skoehler[2012-10-17] OMIM:612337 Intellectual developmental disorder, autosomal dominant 22 HP:0000369 OMIM:612337 TAS P HPO:skoehler[2012-10-17] OMIM:612337 Intellectual developmental disorder, autosomal dominant 22 HP:0000006 PMID:24193349 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2022-06-11] +OMIM:612337 Intellectual developmental disorder, autosomal dominant 22 HP:0001611 PMID:24193349 PCS 1/1 P HPO:probinson[2022-06-11] OMIM:613029 Glioma susceptibility 3 HP:0009592 PMID:16825431 PCS 2/28 P HPO:skoehler[2015-12-30];HPO:probinson[2023-05-08] OMIM:613029 Glioma susceptibility 3 HP:0006727 PMID:16825431 PCS 3/28 P HPO:probinson[2023-05-08] OMIM:613029 Glioma susceptibility 3 HP:0012174 PMID:15689453 PCS 1/2 P HPO:skoehler[2015-12-30];HPO:probinson[2023-05-08] @@ -75179,6 +75676,48 @@ OMIM:607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autoso OMIM:214200 Ceroid storage disease HP:0001399 OMIM:214200 IEA P HPO:iea[2009-02-17] OMIM:214200 Ceroid storage disease HP:0000007 OMIM:214200 TAS I HPO:nvasilevsky[2019-03-21];HPO:lccarmody[2019-03-21];HPO:skoehler[2019-03-21] OMIM:214200 Ceroid storage disease HP:0001743 OMIM:214200 IEA P HPO:iea[2009-02-17] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0002421 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0000341 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0002169 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0002521 PMID:34172529 PCS 2/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0001250 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0030674 PMID:34172529 PCS 1/2 C HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0010808 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0001252 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0001274 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0003593 PMID:36553519;PMID:34172529 PCS 2/3 C HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0000283 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0032794 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0001290 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0012704 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0012444 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0033725 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0012469 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0000639 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0001508 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0000737 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0020221 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0000637 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0002119 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0002019 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0000212 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0001347 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0002179 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0030842 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0030048 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0011968 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0005484 PMID:34172529 PCS 2/2 P HPO:probinson[2023-06-14];HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0033454 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0011344 PMID:34172529 PCS 2/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0034295 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0034353 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0031165 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0000007 PMID:36553519 PCS I HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0000648 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0007874 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0000369 PMID:36553519 PCS 1/1 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0004305 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] +OMIM:620352 Developmental and epileptic encephalopathy 31B, autosomal recessive HP:0001336 PMID:34172529 PCS 1/2 P HPO:probinson[2023-06-14] OMIM:600082 Prostatic hyperplasia, benign HP:0003593 OMIM:600082 IEA C HPO:iea[2009-02-17] OMIM:600082 Prostatic hyperplasia, benign HP:0008711 OMIM:600082 IEA P HPO:iea[2009-02-17] OMIM:600082 Prostatic hyperplasia, benign HP:0000006 OMIM:600082 IEA I HPO:iea[2009-02-17] @@ -75363,25 +75902,25 @@ OMIM:127100 Dwarfism, Levi type HP:0000271 OMIM:127100 IEA P HPO:iea[2009-0 OMIM:127100 Dwarfism, Levi type HP:0001518 OMIM:127100 IEA P HPO:iea[2009-02-17] OMIM:127100 Dwarfism, Levi type HP:0000007 OMIM:127100 IEA I HPO:iea[2009-02-17] OMIM:127100 Dwarfism, Levi type HP:0000006 OMIM:127100 IEA I HPO:iea[2009-02-17] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0002069 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0000750 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0001310 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0001332 PMID:32383294 PCS 2/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0002066 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0001252 PMID:32383294 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0002151 PMID:32383294 PCS 2/2 P HPO:probinson[2009-02-17];HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0002063 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0003593 PMID:32383294 PCS 2/2 C HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0002194 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0001270 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0003819 OMIM:203740 TAS C HPO:probinson[2009-02-17] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0000007 PMID:32383294 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0002317 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0002119 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0004902 OMIM:203740 IEA P HPO:iea[2009-02-17] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0002527 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0001942 OMIM:203740 IEA P HPO:iea[2009-02-17] -OMIM:203740 Alpha-Ketoglutarate dehydrogenase deficiency HP:0003700 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0002069 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0000750 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0001310 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0001332 PMID:32383294 PCS 2/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0002066 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0001252 PMID:32383294 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0002151 PMID:32383294 PCS 2/2 P HPO:probinson[2009-02-17];HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0002063 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0003593 PMID:32383294 PCS 2/2 C HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0002194 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0001270 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0003819 OMIM:203740 TAS C HPO:probinson[2009-02-17] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0000007 PMID:32383294 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0002317 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0002119 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0004902 OMIM:203740 IEA P HPO:iea[2009-02-17] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0002527 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0001942 OMIM:203740 IEA P HPO:iea[2009-02-17] +OMIM:203740 Oxoglutarate dehydrogenase deficiency HP:0003700 PMID:32383294 PCS 1/2 P HPO:probinson[2022-03-27] OMIM:609924 Aminoacylase 1 deficiency HP:0002069 PMID:16274666 PCS 1/1 P HPO:probinson[2023-04-02] OMIM:609924 Aminoacylase 1 deficiency HP:0006846 PMID:16274666 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2023-04-02] OMIM:609924 Aminoacylase 1 deficiency HP:0002059 OMIM:609924 IEA P HPO:iea[2009-02-17] @@ -76058,9 +76597,11 @@ OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0002360 PMID:2 OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0010864 PMID:16080119;PMID:24478188;PMID:20035514 PCS 26/26 P HPO:probinson[2021-05-10] OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0002719 PMID:17172942;PMID:24478188 PCS 9/12 P HPO:probinson[2021-05-10] OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0007021 PMID:20035514 PCS 3/9 P HPO:probinson[2021-05-10] +OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0000817 OMIM:300260;PMID:20035514 PCS 19/19 P HPO:probinson[2021-05-10];HPO:skoehler[2010-06-18] OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0005709 PMID:17172942 PCS 1/7 P HPO:probinson[2021-05-10] OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0000739 PMID:20035514 PCS 6/9 P HPO:skoehler[2010-06-18];HPO:probinson[2021-05-10] OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0012450 PMID:24478188;PMID:20035514 PCS 9/14 P HPO:probinson[2021-05-10] +OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0000733 PMID:15689435;PMID:17172942;PMID:20035514 PCS 11/17 P HPO:probinson[2021-05-10] OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0000218 PMID:17172942 PCS 1/7 P HPO:probinson[2021-05-10] OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0000256 PMID:17172942 PCS 1/7 P HPO:iea[2009-02-17];HPO:probinson[2021-05-10] OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0032989 PMID:15689435 PCS 1/1 P HPO:probinson[2021-05-10] @@ -76208,6 +76749,7 @@ OMIM:618141 Epileptic encephalopathy, early infantile, 67 HP:0003593 PMID:29630 OMIM:618141 Epileptic encephalopathy, early infantile, 67 HP:0100660 PMID:29630738 PCS 1/9 P HPO:skoehler[2019-02-15];HPO:probinson[2022-12-18] OMIM:618141 Epileptic encephalopathy, early infantile, 67 HP:0100023 PMID:29630738 PCS 3/9 P HPO:probinson[2022-12-18] OMIM:618141 Epileptic encephalopathy, early infantile, 67 HP:0011463 PMID:29630738 PCS 3/9 C HPO:probinson[2022-12-18] +OMIM:618141 Epileptic encephalopathy, early infantile, 67 HP:0000817 PMID:29630738 PCS 1/9 P HPO:skoehler[2019-04-18];HPO:probinson[2022-12-18] OMIM:618141 Epileptic encephalopathy, early infantile, 67 HP:0032792 PMID:29630738 PCS 3/9 P HPO:probinson[2022-12-18] OMIM:618141 Epileptic encephalopathy, early infantile, 67 HP:0200134 PMID:29630738 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-12-18] OMIM:618141 Epileptic encephalopathy, early infantile, 67 HP:0002305 PMID:29630738 PCS 1/9 P HPO:skoehler[2019-02-15];HPO:probinson[2022-12-18] @@ -76530,6 +77072,7 @@ OMIM:610253 Kleefstra syndrome HP:0000718 OMIM:610253 PCS HP:0040282 P HPO:s OMIM:610253 Kleefstra syndrome HP:0000717 http://www.ncbi.nlm.nih.gov/books/NBK47079/ PCS HP:0040282 P HPO:sdoelken[2010-12-03] OMIM:610253 Kleefstra syndrome HP:0000316 http://www.ncbi.nlm.nih.gov/books/NBK47079/ TAS HP:0011463 HP:0040282 P HPO:sdoelken[2010-12-03] OMIM:610253 Kleefstra syndrome HP:0000954 OMIM:610253 TAS P HPO:skoehler[2012-10-17] +OMIM:610253 Kleefstra syndrome HP:0000733 http://www.ncbi.nlm.nih.gov/books/NBK47079/ PCS HP:0040282 P HPO:sdoelken[2010-12-03] OMIM:610253 Kleefstra syndrome HP:0003745 http://www.ncbi.nlm.nih.gov/books/NBK47079/ TAS I HPO:sdoelken[2010-12-03] OMIM:610253 Kleefstra syndrome HP:0000158 http://www.ncbi.nlm.nih.gov/books/NBK47079/ TAS HP:0011463 HP:0040282 P HPO:sdoelken[2010-12-03] OMIM:610253 Kleefstra syndrome HP:0006335 http://www.ncbi.nlm.nih.gov/books/NBK47079/ TAS HP:0003621 HP:0040283 P HPO:sdoelken[2012-07-31] @@ -76543,6 +77086,8 @@ OMIM:610253 Kleefstra syndrome HP:0001762 http://www.ncbi.nlm.nih.gov/books/NBK OMIM:610253 Kleefstra syndrome HP:0000232 http://www.ncbi.nlm.nih.gov/books/NBK47079/ TAS HP:0011463 HP:0040282 P HPO:sdoelken[2010-12-03] OMIM:610253 Kleefstra syndrome HP:0000272 http://www.ncbi.nlm.nih.gov/books/NBK47079/ TAS HP:0011463 HP:0040282 P HPO:sdoelken[2010-12-03] OMIM:610253 Kleefstra syndrome HP:0011800 OMIM:610253 TAS P HPO:skoehler[2013-11-28] +OMIM:610253 Kleefstra syndrome HP:0000708 http://www.ncbi.nlm.nih.gov/books/NBK47079/ PCS HP:0040282 P HPO:sdoelken[2009-02-17] +OMIM:610253 Kleefstra syndrome HP:0000722 OMIM:610253 TAS P HPO:skoehler[2012-10-17] OMIM:610253 Kleefstra syndrome HP:0002205 http://www.ncbi.nlm.nih.gov/books/NBK47079/ TAS HP:0040282 P HPO:sdoelken[2010-12-03] OMIM:610253 Kleefstra syndrome HP:0000741 http://www.ncbi.nlm.nih.gov/books/NBK47079/ PCS HP:0003621 HP:0040284 P HPO:sdoelken[2010-12-03] OMIM:610253 Kleefstra syndrome HP:0000664 http://www.ncbi.nlm.nih.gov/books/NBK47079/ TAS HP:0011463 HP:0040282 P HPO:sdoelken[2010-12-03] @@ -77194,27 +77739,28 @@ OMIM:167900 Papillomatosis, familial cutaneous HP:0000006 OMIM:167900 TAS I OMIM:167900 Papillomatosis, familial cutaneous HP:0000962 OMIM:167900 TAS P HPO:probinson[2012-07-16] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0002069 PMID:8050626 PCS 1/1 P HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0010529 PMID:8050626 PCS 1/1 P HPO:probinson[2023-03-23] -OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000750 PMID:8050626 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2023-03-23] -OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0002353 OMIM:608636 IEA HP:0040282 P HPO:iea[2009-02-17] -OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0002078 PMID:8050626 PCS 1/1 P HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0001250 OMIM:608636 IEA HP:0040282 P HPO:iea[2009-02-17] -OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0003144 OMIM:608636 IEA HP:0040282 P HPO:iea[2009-02-17] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0001252 PMID:8050626 PCS HP:0003593 1/1 P HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0003593 PMID:8050626 PCS 1/1 C HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0010864 PMID:8050626 PCS 1/1 P HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0011463 OMIM:608636 IEA C HPO:iea[2009-02-17] -OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000728 PMID:8050626 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2023-03-23] +OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000817 PMID:8050626 PCS 1/1 P HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0003829 OMIM:608636 TAS I HPO:skoehler[2015-12-30] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000717 PMID:8050626 PCS 1/1 P HPO:probinson[2023-03-23] -OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000723 OMIM:608636 TAS P HPO:skoehler[2013-06-04] +OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000733 PMID:8050626 PCS 1/1 P HPO:probinson[2009-02-17];HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0001426 OMIM:608636 IEA I HPO:iea[2009-02-17] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000758 OMIM:608636 TAS P HPO:probinson[2009-02-17] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0002317 PMID:8050626 PCS 1/1 P HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000735 PMID:8050626 PCS 1/1 P HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0003745 OMIM:608636 IEA I HPO:iea[2009-02-17] -OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000006 PMID:8050626 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2023-03-23] -OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000732 PMID:8050626 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0001249 OMIM:608636 IEA P HPO:iea[2009-02-17] +OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000750 PMID:8050626 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2023-03-23] +OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0002353 OMIM:608636 IEA HP:0040282 P HPO:iea[2009-02-17] +OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0002078 PMID:8050626 PCS 1/1 P HPO:probinson[2023-03-23] +OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0003144 OMIM:608636 IEA HP:0040282 P HPO:iea[2009-02-17] +OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000728 PMID:8050626 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2023-03-23] +OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000723 OMIM:608636 TAS P HPO:skoehler[2013-06-04] +OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000006 PMID:8050626 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2023-03-23] OMIM:608636 Chromosome 15q11-q13 duplication syndrome HP:0000721 OMIM:608636 IEA P HPO:iea[2009-02-17] OMIM:618425 Neurodevelopmental disorder with impaired speech and hyperkinetic movements HP:0002069 PMID:31036918 PCS 5/7 P HPO:skoehler[2019-09-07];HPO:probinson[2023-01-30] OMIM:618425 Neurodevelopmental disorder with impaired speech and hyperkinetic movements HP:0002487 PMID:31036918 PCS P HPO:skoehler[2019-09-07];HPO:probinson[2023-01-30] @@ -77452,6 +77998,7 @@ OMIM:618357 Epilepsy, idiopathic generalized, susceptibility to, 15 HP:0001250 OMIM:618357 Epilepsy, idiopathic generalized, susceptibility to, 15 HP:0002121 OMIM:618357 IEA P HPO:skoehler[2019-04-18] OMIM:618357 Epilepsy, idiopathic generalized, susceptibility to, 15 HP:0001263 OMIM:618357 IEA P HPO:skoehler[2019-04-18] OMIM:618357 Epilepsy, idiopathic generalized, susceptibility to, 15 HP:0003593 PMID:27352968 PCS 1/20 C HPO:probinson[2022-10-12] +OMIM:618357 Epilepsy, idiopathic generalized, susceptibility to, 15 HP:0000708 OMIM:618357 IEA HP:0040284 P HPO:skoehler[2019-04-18] OMIM:618357 Epilepsy, idiopathic generalized, susceptibility to, 15 HP:0011463 PMID:27352968 PCS 11/20 C HPO:probinson[2022-10-12] OMIM:618357 Epilepsy, idiopathic generalized, susceptibility to, 15 HP:0000718 OMIM:618357 IEA P HPO:skoehler[2019-04-18] OMIM:618357 Epilepsy, idiopathic generalized, susceptibility to, 15 HP:0003829 OMIM:618357 IEA I HPO:skoehler[2019-04-18] @@ -77495,6 +78042,81 @@ OMIM:607539 Camptosynpolydactyly, complex HP:0000007 PMID:27041388 PCS I HP OMIM:607539 Camptosynpolydactyly, complex HP:0012725 OMIM:607539 TAS P HPO:skoehler[2017-07-13] OMIM:607539 Camptosynpolydactyly, complex HP:0010442 PMID:27041388 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2022-12-14] OMIM:607539 Camptosynpolydactyly, complex HP:0001159 PMID:27041388 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2022-12-14] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000286 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0004322 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0002020 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0045075 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0010055 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0011220 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0010296 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000316 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000954 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000494 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000695 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0002474 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000453 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000452 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0011800 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0008282 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0034197 PMID:31949313 PCS 1/9 C HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000408 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0034199 PMID:31949313 PCS 1/9 C HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0034198 PMID:31949313 PCS 1/9 C HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000646 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000568 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000405 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0008404 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0002943 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000289 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000006 PMID:31949313 PCS I HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000369 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000324 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0001655 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0005359 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0001792 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0004467 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0010628 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0002561 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0005990 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0010943 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0008070 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0008551 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000414 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000612 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000219 PMID:31949313 PCS 3/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0030084 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0009765 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0002714 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0002557 PMID:31949313 PCS 3/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000851 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000410 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0008513 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0006579 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000413 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0001667 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000275 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000396 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0001561 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000670 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0007925 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000750 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000431 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000430 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000034 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000193 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0002092 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0005280 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0009796 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000348 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000821 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0002205 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0001511 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000268 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0001631 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000347 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0000588 PMID:31949313 PCS 1/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0008625 PMID:31949313 PCS 2/9 P HPO:probinson[2023-06-11] +OMIM:620186 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome HP:0004502 PMID:31949313 PCS 4/9 P HPO:probinson[2023-06-11] OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy HP:0000286 PMID:30893644 PCS 4/4 P HPO:probinson[2022-09-05] OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy HP:0002221 PMID:30893644 PCS 1/4 P HPO:skoehler[2019-09-07];HPO:probinson[2022-09-05] OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy HP:0002023 PMID:30893644 PCS 1/4 P HPO:skoehler[2019-09-07];HPO:probinson[2022-09-05] @@ -77736,6 +78358,21 @@ OMIM:158500 Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitu OMIM:158500 Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus HP:0001251 OMIM:158500 IEA P HPO:iea[2009-02-17] OMIM:158500 Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus HP:0000510 OMIM:158500 IEA P HPO:iea[2009-02-17] OMIM:158500 Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus HP:0000006 OMIM:158500 IEA I HPO:iea[2009-02-17] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0000670 PMID:16501574 PCS 3/3 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0000365 PMID:16501574 PCS 3/3 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0007925 PMID:28483234 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0001172 PMID:16501574 PCS 0/3 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0000691 PMID:16501574;PMID:28483234 PCS 4/5 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0001092 PMID:28483234 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0000509 PMID:16501574;PMID:28483234 PCS 5/5 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0008551 PMID:16501574;PMID:28483234 PCS 5/5 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0000668 PMID:16501574;PMID:28483234 PCS 4/5 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0009942 PMID:28483234 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0000378 PMID:16501574;PMID:28483234 PCS 5/5 P HPO:probinson[2023-06-10];HPO:probinson[2023-06-10];HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0000564 PMID:28483234 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0000006 PMID:16501574 PCS I HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0000522 PMID:16501574 PCS 3/3 P HPO:probinson[2023-06-10];HPO:probinson[2023-06-10] +OMIM:620192 Lacrimoauriculodentodigital syndrome-2 HP:0000698 PMID:16501574 PCS 3/3 P HPO:probinson[2023-06-10] OMIM:617879 Leber congenital amaurosis with early-onset deafness HP:0007814 PMID:29198720 PCS 2/6 P HPO:probinson[2022-11-07];HPO:probinson[2022-11-07] OMIM:617879 Leber congenital amaurosis with early-onset deafness HP:0003577 PMID:29198720 PCS 3/6 C HPO:probinson[2022-11-07];HPO:probinson[2022-11-07] OMIM:617879 Leber congenital amaurosis with early-onset deafness HP:0500087 PMID:29198720 PCS 1/6 P HPO:probinson[2022-11-07];HPO:probinson[2022-11-07] @@ -78421,28 +79058,29 @@ OMIM:607317 Spinocerebellar ataxia, autosomal recessive 4 HP:0001337 OMIM:60731 OMIM:607317 Spinocerebellar ataxia, autosomal recessive 4 HP:0001336 PMID:29604224 PCS 5/12 P HPO:iea[2009-02-17];HPO:probinson[2023-02-19] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001298 PMID:18179882 PCS 6/6 P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0002069 PMID:18179882 PCS 2/5 P HPO:probinson[2022-05-26] -OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0002510 PMID:18179882 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0003577 PMID:18179882 PCS 9/9 C HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0000365 OMIM:618237 IEA P HPO:skoehler[2019-04-18] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001332 PMID:18179882 PCS 5/5 P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001371 OMIM:618237 IEA P HPO:skoehler[2019-02-15] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0003198 OMIM:618237 IEA P HPO:skoehler[2019-02-15] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001272 PMID:18179882 PCS 1/1 P HPO:probinson[2022-05-26] -OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0002151 PMID:18179882 PCS 9/9 P HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001290 PMID:18179882 PCS 5/5 P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] -OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0011923 PMID:18179882 PCS 4/4 P HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001508 PMID:18179882 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0000639 PMID:18179882 PCS 5/5 P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] -OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001639 PMID:18179882 PCS HP:0011463 1/6 P HPO:skoehler[2019-04-18];HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0000737 PMID:18179882 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] +OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0000817 PMID:18179882 PCS 5/5 P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] +OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001942 PMID:18179882 PCS HP:0003577 9/9 P HPO:skoehler[2019-04-18];HPO:probinson[2022-05-26] +OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0007305 PMID:18179882 PCS 1/1 P HPO:probinson[2022-05-26] +OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001347 PMID:18179882 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] +OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0002510 PMID:18179882 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] +OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0002151 PMID:18179882 PCS 9/9 P HPO:probinson[2022-05-26] +OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0011923 PMID:18179882 PCS 4/4 P HPO:probinson[2022-05-26] +OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001639 PMID:18179882 PCS HP:0011463 1/6 P HPO:skoehler[2019-04-18];HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0002808 PMID:18179882 PCS P HPO:skoehler[2019-04-18];HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0000007 PMID:18179882 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0000648 PMID:18179882 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001511 OMIM:618237 IEA P HPO:skoehler[2019-02-15] OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0003811 PMID:18179882 PCS 3/9 C HPO:probinson[2022-05-26] -OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001942 PMID:18179882 PCS HP:0003577 9/9 P HPO:skoehler[2019-04-18];HPO:probinson[2022-05-26] -OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0007305 PMID:18179882 PCS 1/1 P HPO:probinson[2022-05-26] -OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15 HP:0001347 PMID:18179882 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-26] OMIM:275210 Restrictive dermopathy 1 HP:0000561 OMIM:275210 IEA P HPO:skoehler[2018-10-08] OMIM:275210 Restrictive dermopathy 1 HP:0001371 OMIM:275210 IEA P HPO:iea[2009-02-17] OMIM:275210 Restrictive dermopathy 1 HP:0000160 PMID:15317753 PCS 7/7 P HPO:iea[2009-02-17];HPO:probinson[2022-05-29] @@ -79044,6 +79682,7 @@ OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis HP:0000 OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis HP:0003713 PMID:12565911 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-03-27] OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis HP:0001653 PMID:12565911 PCS 2/7 P HPO:probinson[2022-03-27] OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis HP:0003438 PMID:12565911 PCS 1/7 P HPO:probinson[2022-03-27] +OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis HP:0001611 PMID:12565911 PCS 2/7 P HPO:probinson[2022-03-27] OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis HP:0001336 OMIM:607459 IEA P HPO:iea[2009-02-17] OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis HP:0003557 PMID:12565911 PCS 3/3 P HPO:iea[2009-02-17];HPO:probinson[2022-03-27] OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis HP:0007814 PMID:12565911 PCS 1/7 P HPO:probinson[2022-03-27] @@ -79582,6 +80221,15 @@ OMIM:300472 Corpus callosum, agenesis of, with mental retardation, ocular colobo OMIM:300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia HP:0008689 PMID:14556245 PCS 1/2 P HPO:probinson[2021-09-25] OMIM:300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia HP:0000369 PMID:14556245 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2021-09-25] OMIM:300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia HP:0000588 PMID:14556245 PCS 1/2 P HPO:probinson[2012-07-17];HPO:probinson[2021-09-25] +OMIM:620227 Deafness, autosomal dominant 85 HP:0003577 PMID:34059922 PCS 1/8 C HPO:probinson[2023-06-10] +OMIM:620227 Deafness, autosomal dominant 85 HP:0003621 PMID:34059922 PCS 1/8 C HPO:probinson[2023-06-10] +OMIM:620227 Deafness, autosomal dominant 85 HP:0003596 PMID:34059922 PCS 4/8 C HPO:probinson[2023-06-10] +OMIM:620227 Deafness, autosomal dominant 85 HP:0000407 PMID:34059922 PCS 8/9 P HPO:probinson[2023-06-10];HPO:probinson[2023-06-10] +OMIM:620227 Deafness, autosomal dominant 85 HP:0011463 PMID:34059922 PCS 1/8 C HPO:probinson[2023-06-10] +OMIM:620227 Deafness, autosomal dominant 85 HP:0011462 PMID:34059922 PCS 1/8 C HPO:probinson[2023-06-10] +OMIM:620227 Deafness, autosomal dominant 85 HP:0003829 PMID:34059922 PCS I HPO:probinson[2023-06-10] +OMIM:620227 Deafness, autosomal dominant 85 HP:0034585 PMID:34059922 PCS 1/9 P HPO:probinson[2023-06-10] +OMIM:620227 Deafness, autosomal dominant 85 HP:0000006 PMID:34059922 PCS I HPO:probinson[2023-06-10] OMIM:616795 Spinocerebellar ataxia 42 HP:0002015 PMID:26456284 IEA 4/15 P HPO:probinson[2017-06-18] OMIM:616795 Spinocerebellar ataxia 42 HP:0000651 PMID:26456284 PCS P HPO:probinson[2017-06-18] OMIM:616795 Spinocerebellar ataxia 42 HP:0003487 OMIM:616795 PCS 4/15 P HPO:probinson[2017-06-18] @@ -79823,6 +80471,7 @@ OMIM:278250 Wrinkly skin syndrome HP:0001537 PMID:24815019 PCS 1/1 P HPO:sko OMIM:278250 Wrinkly skin syndrome HP:0000767 OMIM:278250 TAS P HPO:skoehler[2015-02-22] OMIM:278250 Wrinkly skin syndrome HP:0000007 PMID:18157129 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-08-17] OMIM:278250 Wrinkly skin syndrome HP:0000369 PMID:24815019 PCS 1/1 P HPO:skoehler[2015-02-22];HPO:probinson[2022-08-17] +OMIM:278250 Wrinkly skin syndrome HP:0001611 OMIM:278250 TAS P HPO:skoehler[2015-02-22] OMIM:278250 Wrinkly skin syndrome HP:0030799 PMID:24815019 PCS 1/1 P HPO:probinson[2022-08-17] OMIM:278250 Wrinkly skin syndrome HP:0003577 PMID:24815019 PCS 1/1 C HPO:probinson[2022-08-17] OMIM:278250 Wrinkly skin syndrome HP:0000343 PMID:24815019 PCS 1/1 P HPO:skoehler[2015-02-22];HPO:probinson[2022-08-17] @@ -79966,6 +80615,7 @@ OMIM:613174 Chromosome 5p13 duplication syndrome HP:0000954 PMID:19052029 PCS OMIM:613174 Chromosome 5p13 duplication syndrome HP:0000337 PMID:19052029 PCS 1/6 P HPO:skoehler[2010-06-20] OMIM:613174 Chromosome 5p13 duplication syndrome HP:0000414 PMID:19052029 PCS 1/6 P HPO:skoehler[2010-06-20];HPO:probinson[2023-03-01] OMIM:613174 Chromosome 5p13 duplication syndrome HP:0100807 PMID:19052029 PCS 3/6 P HPO:skoehler[2015-12-30];HPO:probinson[2023-03-01] +OMIM:613174 Chromosome 5p13 duplication syndrome HP:0000733 PMID:19052029 PCS 1/6 P HPO:skoehler[2010-06-20];HPO:probinson[2023-03-01] OMIM:613174 Chromosome 5p13 duplication syndrome HP:0000637 PMID:19052029 PCS 1/6 P HPO:probinson[2023-03-01] OMIM:613174 Chromosome 5p13 duplication syndrome HP:0002714 PMID:19052029 PCS 1/6 P HPO:probinson[2023-03-01] OMIM:613174 Chromosome 5p13 duplication syndrome HP:0000218 PMID:19052029 PCS 3/6 P HPO:skoehler[2010-06-20];HPO:probinson[2023-03-01] @@ -79983,6 +80633,7 @@ OMIM:613174 Chromosome 5p13 duplication syndrome HP:0001263 PMID:19052029 PCS OMIM:613174 Chromosome 5p13 duplication syndrome HP:0001518 PMID:19052029 PCS P HPO:skoehler[2010-06-20];HPO:probinson[2023-03-01] OMIM:613174 Chromosome 5p13 duplication syndrome HP:0000601 PMID:19052029 PCS 1/6 P HPO:skoehler[2010-06-20];HPO:probinson[2023-03-01] OMIM:613174 Chromosome 5p13 duplication syndrome HP:0001833 PMID:19052029 PCS 1/6 P HPO:skoehler[2010-06-20];HPO:probinson[2023-03-01] +OMIM:613174 Chromosome 5p13 duplication syndrome HP:0000722 PMID:19052029 PCS 1/6 P HPO:skoehler[2014-03-24] OMIM:613174 Chromosome 5p13 duplication syndrome HP:0100716 PMID:19052029 PCS 1/5 P HPO:probinson[2023-03-01] OMIM:613174 Chromosome 5p13 duplication syndrome HP:0000565 PMID:19052029 PCS 1/6 P HPO:probinson[2023-03-01] OMIM:613174 Chromosome 5p13 duplication syndrome HP:0002007 PMID:19052029 PCS 2/6 P HPO:skoehler[2015-12-30];HPO:probinson[2023-03-01] @@ -80046,6 +80697,7 @@ OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet HP:001084 OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet HP:0000639 PMID:28794249 PCS 2/9 P HPO:probinson[2021-07-04] OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet HP:0100702 PMID:28794249 PCS 2/9 P HPO:probinson[2021-07-04] OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet HP:0000316 PMID:28794249 PCS 1/9 P HPO:probinson[2021-07-04] +OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet HP:0000733 PMID:28794249 PCS 1/9 P HPO:probinson[2021-07-04] OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet HP:0001348 PMID:28794249 PCS 1/9 P HPO:probinson[2021-07-04] OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet HP:0025517 PMID:28794249 PCS 5/9 P HPO:probinson[2021-07-04] OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet HP:0008936 PMID:28794249 PCS 5/9 P HPO:probinson[2021-07-04] @@ -80580,6 +81232,7 @@ OMIM:610443 Koolen-De Vries syndrome HP:0000960 OMIM:610443 TAS P HPO:skoeh OMIM:610443 Koolen-De Vries syndrome HP:0000006 PMID:19447831 PCS I HPO:iea[2010-09-08];HPO:probinson[2020-08-02] OMIM:610443 Koolen-De Vries syndrome HP:0000204 OMIM:610443 TAS P HPO:skoehler[2012-10-17] OMIM:610443 Koolen-De Vries syndrome HP:0000126 OMIM:610443 TAS P HPO:skoehler[2012-10-17] +OMIM:610443 Koolen-De Vries syndrome HP:0001611 PMID:18628315 PCS 6/12 P HPO:iea[2010-09-08];HPO:probinson[2020-08-02] OMIM:610443 Koolen-De Vries syndrome HP:0000687 PMID:19447831;OMIM:610443 PCS 14/21 P HPO:skoehler[2013-01-22];HPO:probinson[2020-08-02] OMIM:610443 Koolen-De Vries syndrome HP:0000582 PMID:18628315 PCS 15/22 P HPO:iea[2010-09-08];HPO:probinson[2020-08-02] OMIM:610443 Koolen-De Vries syndrome HP:0000189 PMID:18628315 PCS 11/22 P HPO:iea[2010-09-08];HPO:probinson[2020-08-02] @@ -80670,6 +81323,7 @@ OMIM:619467 Usmani-Riazuddin syndrome, autosomal dominant HP:0001263 PMID:34102 OMIM:619467 Usmani-Riazuddin syndrome, autosomal dominant HP:0004691 PMID:34102099 PCS 1/7 P HPO:probinson[2022-01-23] OMIM:619467 Usmani-Riazuddin syndrome, autosomal dominant HP:0000729 PMID:34102099 PCS 3/8 P HPO:probinson[2022-01-23] OMIM:619467 Usmani-Riazuddin syndrome, autosomal dominant HP:0000646 PMID:34102099 PCS 1/6 P HPO:probinson[2022-01-23] +OMIM:619467 Usmani-Riazuddin syndrome, autosomal dominant HP:0000722 PMID:34102099 PCS 1/8 P HPO:probinson[2022-01-23] OMIM:619467 Usmani-Riazuddin syndrome, autosomal dominant HP:0100716 PMID:34102099 PCS 1/8 P HPO:probinson[2022-01-23] OMIM:619467 Usmani-Riazuddin syndrome, autosomal dominant HP:0000768 PMID:34102099 PCS 1/7 P HPO:probinson[2022-01-23];HPO:probinson[2022-01-23] OMIM:619467 Usmani-Riazuddin syndrome, autosomal dominant HP:0004209 PMID:34102099 PCS 1/7 P HPO:probinson[2022-01-23] @@ -81632,6 +82286,7 @@ OMIM:616973 Intellectual developmental disorder, autosomal dominant 42 HP:00020 OMIM:616973 Intellectual developmental disorder, autosomal dominant 42 HP:0010818 PMID:27108799 PCS 2/13 P HPO:probinson[2022-04-18];HPO:probinson[2022-04-18] OMIM:616973 Intellectual developmental disorder, autosomal dominant 42 HP:0000074 PMID:27108799 PCS 1/13 P HPO:probinson[2022-04-18];HPO:probinson[2022-04-18] OMIM:616973 Intellectual developmental disorder, autosomal dominant 42 HP:0010851 PMID:27108799 PCS 1/13 P HPO:probinson[2022-04-18];HPO:probinson[2022-04-18] +OMIM:616973 Intellectual developmental disorder, autosomal dominant 42 HP:0000708 PMID:27108799 PCS 4/13 P HPO:probinson[2022-04-18];HPO:probinson[2022-04-18] OMIM:616973 Intellectual developmental disorder, autosomal dominant 42 HP:0032792 PMID:27108799 PCS 2/13 P HPO:probinson[2022-04-18];HPO:probinson[2022-04-18] OMIM:616973 Intellectual developmental disorder, autosomal dominant 42 HP:0011352 PMID:27108799 PCS 1/13 P HPO:probinson[2022-04-18];HPO:probinson[2022-04-18] OMIM:616973 Intellectual developmental disorder, autosomal dominant 42 HP:0011198 PMID:27108799 PCS 3/13 P HPO:probinson[2022-04-18];HPO:probinson[2022-04-18] @@ -81787,6 +82442,7 @@ OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 HP:0002093 OMIM:610127 IEA OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 HP:0000007 PMID:16685649 PCS I HPO:iea[2009-02-17];HPO:probinson[2021-10-23] OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 HP:0002529 OMIM:610127 TAS P HPO:probinson[2012-07-16] OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 HP:0003811 PMID:16670177 PCS 1/4 C HPO:probinson[2021-10-23] +OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 HP:0003657 PMID:25298308 PCS 2/5 P HPO:probinson[2021-10-23] OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 HP:0001257 PMID:16670177 PCS 3/4 P HPO:iea[2009-02-17];HPO:probinson[2021-10-23] OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 HP:0002104 PMID:16670177 PCS 4/4 P HPO:iea[2009-02-17];HPO:probinson[2021-10-23] OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 HP:0006887 OMIM:610127 IEA P HPO:iea[2009-02-17] @@ -81964,6 +82620,7 @@ OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbanc OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities HP:0012368 PMID:32822602 PCS 2/3 P HPO:probinson[2021-02-14] OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities HP:0010864 PMID:32822602 PCS 3/3 P HPO:probinson[2021-02-14] OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities HP:0001629 PMID:32822602 PCS 1/3 P HPO:probinson[2021-02-14] +OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities HP:0000733 PMID:32822602 PCS 1/3 P HPO:probinson[2021-02-14] OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities HP:0000414 PMID:32822602 PCS 1/3 P HPO:probinson[2021-02-14] OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities HP:0000179 PMID:32822602 PCS 1/3 P HPO:probinson[2021-02-14] OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities HP:0000311 PMID:32822602 PCS 2/3 P HPO:probinson[2021-02-14] @@ -82388,29 +83045,30 @@ OMIM:613412 Esophagitis, eosinophilic, 2 HP:0002013 OMIM:613412 TAS P HPO:s OMIM:613412 Esophagitis, eosinophilic, 2 HP:0001508 OMIM:613412 TAS P HPO:skoehler[2012-10-17] OMIM:613412 Esophagitis, eosinophilic, 2 HP:0410019 OMIM:613412 TAS P HPO:skoehler[2017-07-13] OMIM:182150 Simosa craniofacial syndrome HP:0001595 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] -OMIM:182150 Simosa craniofacial syndrome HP:0002553 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] OMIM:182150 Simosa craniofacial syndrome HP:0000343 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] -OMIM:182150 Simosa craniofacial syndrome HP:0000431 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] -OMIM:182150 Simosa craniofacial syndrome HP:0003189 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] OMIM:182150 Simosa craniofacial syndrome HP:0000023 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] -OMIM:182150 Simosa craniofacial syndrome HP:0000276 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] -OMIM:182150 Simosa craniofacial syndrome HP:0000430 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] OMIM:182150 Simosa craniofacial syndrome HP:0000364 OMIM:182150 TAS 0/2 P HPO:skoehler[2014-11-26];HPO:probinson[2022-05-07] OMIM:182150 Simosa craniofacial syndrome HP:0000160 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] OMIM:182150 Simosa craniofacial syndrome HP:0000581 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] -OMIM:182150 Simosa craniofacial syndrome HP:0000272 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] -OMIM:182150 Simosa craniofacial syndrome HP:0010751 OMIM:182150 TAS P HPO:skoehler[2013-05-31] OMIM:182150 Simosa craniofacial syndrome HP:0012368 OMIM:182150 TAS P HPO:skoehler[2017-07-13] OMIM:182150 Simosa craniofacial syndrome HP:0045075 OMIM:182150 TAS P HPO:probinson[2022-05-07] -OMIM:182150 Simosa craniofacial syndrome HP:0000506 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] OMIM:182150 Simosa craniofacial syndrome HP:0000437 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] OMIM:182150 Simosa craniofacial syndrome HP:0000337 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] -OMIM:182150 Simosa craniofacial syndrome HP:0002705 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] OMIM:182150 Simosa craniofacial syndrome HP:0000377 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] -OMIM:182150 Simosa craniofacial syndrome HP:0000006 OMIM:182150 TAS I HPO:skoehler[2009-02-17] OMIM:182150 Simosa craniofacial syndrome HP:0000358 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] -OMIM:182150 Simosa craniofacial syndrome HP:0000369 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] OMIM:182150 Simosa craniofacial syndrome HP:0000951 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0002553 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0000431 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0003189 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0000276 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0000430 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0000272 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0010751 OMIM:182150 TAS P HPO:skoehler[2013-05-31] +OMIM:182150 Simosa craniofacial syndrome HP:0000506 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0002705 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0000006 OMIM:182150 TAS I HPO:skoehler[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0000369 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] +OMIM:182150 Simosa craniofacial syndrome HP:0001611 OMIM:182150 TAS 2/2 P HPO:probinson[2009-02-17] OMIM:300855 Ogden syndrome HP:0004322 OMIM:300855 TAS P HPO:skoehler[2015-12-30] OMIM:300855 Ogden syndrome HP:0003196 PMID:21700266 PCS 2/8 P HPO:probinson[2022-05-08] OMIM:300855 Ogden syndrome HP:0010055 PMID:21700266 PCS 1/8 P HPO:skoehler[2012-10-14];HPO:probinson[2022-05-08] @@ -82442,6 +83100,7 @@ OMIM:300855 Ogden syndrome HP:0002000 PMID:21700266 PCS 1/8 P HPO:skoehler[2 OMIM:300855 Ogden syndrome HP:0000737 PMID:21700266 PCS 2/8 P HPO:probinson[2022-05-08] OMIM:300855 Ogden syndrome HP:0031295 PMID:21700266 PCS 1/8 P HPO:probinson[2022-05-08] OMIM:300855 Ogden syndrome HP:0000337 PMID:21700266 PCS 1/8 P HPO:probinson[2022-05-08] +OMIM:300855 Ogden syndrome HP:0000733 OMIM:300855 TAS P HPO:skoehler[2015-12-30] OMIM:300855 Ogden syndrome HP:0000219 OMIM:300855 TAS P HPO:skoehler[2015-12-30] OMIM:300855 Ogden syndrome HP:0002119 PMID:21700266 PCS 2/8 P HPO:probinson[2022-05-08] OMIM:300855 Ogden syndrome HP:0000218 OMIM:300855 TAS P HPO:skoehler[2015-12-30] @@ -82544,30 +83203,31 @@ OMIM:300855 Ogden syndrome HP:0001631 OMIM:300855 TAS P HPO:skoehler[2012-1 OMIM:300855 Ogden syndrome HP:0001510 PMID:21700266 PCS 2/8 P HPO:probinson[2022-05-08] OMIM:300855 Ogden syndrome HP:0001873 PMID:21700266 PCS 1/8 P HPO:probinson[2022-05-08] OMIM:300855 Ogden syndrome HP:0000028 PMID:21700266 PCS 5/8 P HPO:skoehler[2012-10-14];HPO:probinson[2022-05-08] -OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0008936 PMID:34605855 PCS 10/10 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0002069 PMID:34605855 PCS 3/8 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] -OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0000252 PMID:34605855 PCS 8/10 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] -OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0001344 PMID:34605855 PCS 10/10 P HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0002540 PMID:34605855 PCS 9/10 P HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0001696 PMID:34605855 PCS 1/10 P HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0002123 PMID:34605855 PCS 1/8 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] -OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0001263 PMID:34605855 PCS 10/10 P HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0003593 PMID:34605855 PCS 8/10 C HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0002020 PMID:34605855 PCS 2/10 P HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0002240 PMID:34605855 PCS 1/10 P HPO:probinson[2022-08-13] -OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0032663 PMID:34605855 PCS 1/8 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0010821 PMID:34605855 PCS 1/8 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0011463 PMID:34605855 PCS 1/10 C HPO:probinson[2022-08-13] -OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0032792 PMID:34605855 PCS 2/8 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0012450 PMID:34605855 PCS 7/10 P HPO:probinson[2022-08-13] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0001249 PMID:34605855 PCS 10/10 P HPO:probinson[2022-08-13] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0003623 PMID:34605855 PCS 1/10 C HPO:probinson[2022-08-13] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0001347 PMID:34605855 PCS 4/10 P HPO:probinson[2022-08-13] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0008936 PMID:34605855 PCS 10/10 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0000252 PMID:34605855 PCS 8/10 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0001344 PMID:34605855 PCS 10/10 P HPO:probinson[2022-08-13] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0001263 PMID:34605855 PCS 10/10 P HPO:probinson[2022-08-13] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0032663 PMID:34605855 PCS 1/8 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0000708 PMID:34605855 PCS 6/10 P HPO:probinson[2022-08-13] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0032792 PMID:34605855 PCS 2/8 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0000007 PMID:34605855 PCS I HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0000505 PMID:34605855 PCS 9/10 P HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0200134 PMID:34605855 PCS 5/10 P HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0007334 PMID:34605855 PCS 1/8 P HPO:probinson[2022-08-13] OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0001631 PMID:34605855 PCS 1/10 P HPO:probinson[2022-08-13] -OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0001249 PMID:34605855 PCS 10/10 P HPO:probinson[2022-08-13] -OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0003623 PMID:34605855 PCS 1/10 C HPO:probinson[2022-08-13] -OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0001347 PMID:34605855 PCS 4/10 P HPO:probinson[2022-08-13] OMIM:126180 Discrimination, two-point, reduction in HP:0000707 OMIM:126180 IEA P HPO:iea[2009-02-17] OMIM:126180 Discrimination, two-point, reduction in HP:0000006 OMIM:126180 IEA I HPO:iea[2009-02-17] OMIM:106250 Ankyloblepharon filiforme adnatum and cleft palate HP:0000175 OMIM:106250 TAS P HPO:skoehler[2010-06-18] @@ -82696,6 +83356,7 @@ OMIM:300100 Adrenoleukodystrophy HP:0006938 PMID:24316281 PCS HP:0003581 P H OMIM:300100 Adrenoleukodystrophy HP:0002371 OMIM:300100 TAS P HPO:skoehler[2013-06-23] OMIM:300100 Adrenoleukodystrophy HP:0002070 OMIM:300100 TAS P HPO:probinson[2012-06-10] OMIM:300100 Adrenoleukodystrophy HP:0000709 OMIM:300100 TAS P HPO:skoehler[2013-06-23] +OMIM:300100 Adrenoleukodystrophy HP:0000708 OMIM:300100 TAS P HPO:skoehler[2013-06-23] OMIM:300100 Adrenoleukodystrophy HP:0000726 OMIM:300100 TAS P HPO:skoehler[2013-06-23] OMIM:300100 Adrenoleukodystrophy HP:0001419 PMID:24316281 PCS I HPO:skoehler[2013-06-23];HPO:probinson[2019-05-22] OMIM:300100 Adrenoleukodystrophy HP:0002607 OMIM:300100 TAS P HPO:skoehler[2013-06-23] @@ -82715,6 +83376,7 @@ OMIM:620033 Developmental and epileptic encephalopathy 107 HP:0003593 PMID:2623 OMIM:620033 Developmental and epileptic encephalopathy 107 HP:0012389 PMID:26235277 PCS 1/1 P HPO:probinson[2022-10-03] OMIM:620033 Developmental and epileptic encephalopathy 107 HP:0032792 PMID:26235277 PCS 1/1 P HPO:probinson[2022-10-03] OMIM:620033 Developmental and epileptic encephalopathy 107 HP:0000007 PMID:26235277 PCS I HPO:probinson[2022-10-03] +OMIM:620033 Developmental and epileptic encephalopathy 107 HP:0000733 PMID:26235277 PCS 1/1 P HPO:probinson[2022-10-03] OMIM:620033 Developmental and epileptic encephalopathy 107 HP:0020221 PMID:26235277 PCS 1/1 P HPO:probinson[2022-10-03] OMIM:620033 Developmental and epileptic encephalopathy 107 HP:0008872 PMID:28097321 PCS 1/1 P HPO:probinson[2022-10-03] OMIM:620033 Developmental and epileptic encephalopathy 107 HP:0200134 PMID:26235277 PCS 1/1 P HPO:probinson[2022-10-03] @@ -82769,8 +83431,10 @@ OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0001290 PMID:154929 OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0010845 PMID:22264704 PCS 6/6 P HP:probinson[2018-05-13] OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0012469 PMID:15492925 PCS 3/5 P HPO:skoehler[2013-11-28];HPO:probinson[2021-02-25] OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0100704 PMID:22264704 PCS P HP:probinson[2018-05-13] +OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0000817 PMID:15492925 PCS 2/5 P HPO:skoehler[2010-06-19];HPO:probinson[2021-02-25] OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0011220 OMIM:300672 TAS P HPO:skoehler[2013-06-23] OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0000337 OMIM:300672 TAS P HPO:skoehler[2013-06-23] +OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0000733 PMID:15492925 PCS 3/5 P HPO:skoehler[2010-06-20];HPO:probinson[2021-02-25] OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0001423 PMID:15492925 PCS I HPO:skoehler[2013-05-29];HPO:probinson[2021-02-25] OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0002019 PMID:15492925 PCS 3/5 P HPO:skoehler[2013-06-23];HPO:probinson[2021-02-25] OMIM:300672 Developmental and epileptic encephalopathy 2 HP:0000179 OMIM:300672 TAS P HPO:skoehler[2013-06-23] @@ -82828,7 +83492,9 @@ OMIM:300114 Raynaud-Claes syndrome HP:0002079 PMID:23647072 PCS 1/1 P HPO:pr OMIM:300114 Raynaud-Claes syndrome HP:0001263 PMID:23647072 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-25] OMIM:300114 Raynaud-Claes syndrome HP:0002073 OMIM:300114 IEA P HPO:skoehler[2019-02-22] OMIM:300114 Raynaud-Claes syndrome HP:0011800 OMIM:300114 IEA P HPO:skoehler[2019-02-22] +OMIM:300114 Raynaud-Claes syndrome HP:0000708 OMIM:300114 TAS HP:0040283 P HPO:skoehler[2017-07-13] OMIM:300114 Raynaud-Claes syndrome HP:0000729 OMIM:300114 IEA P HPO:skoehler[2019-02-22] +OMIM:300114 Raynaud-Claes syndrome HP:0000722 OMIM:300114 IEA P HPO:skoehler[2019-02-22] OMIM:300114 Raynaud-Claes syndrome HP:0200134 PMID:23647072 PCS 1/1 P HPO:skoehler[2019-02-22];HPO:probinson[2022-11-25] OMIM:300114 Raynaud-Claes syndrome HP:0000303 OMIM:300114 IEA P HPO:skoehler[2019-02-22] OMIM:610682 Osteogenesis imperfecta, type VII HP:0002983 OMIM:610682 TAS P HPO:probinson[2012-05-27] @@ -82897,14 +83563,17 @@ OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0000572 OMIM:125310 IEA HP:0040283 P HPO:skoehler[2010-06-20] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0002354 PMID:10371078 PCS 1/1 P HPO:probinson[2022-04-24] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0001288 OMIM:125310 IEA P HPO:iea[2009-02-17] +OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0030223 PMID:10371078 PCS 1/1 P HPO:probinson[2022-04-24] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0002076 PMID:16864835 PCS 6/9 P HPO:iea[2009-02-17];HPO:probinson[2022-07-01] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0002352 PMID:10371078 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2022-07-01] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0032325 PMID:16864835 PCS 7/9 P HPO:probinson[2022-07-01] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0000709 PMID:10371078 PCS 1/1 P HPO:probinson[2022-04-24] +OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0000708 OMIM:125310 TAS P HPO:skoehler[2012-11-18];HPO:probinson[2022-09-05] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0000726 PMID:10371078;PMID:16864835 PCS 5/10 P HPO:probinson[2022-07-01];HPO:probinson[2022-04-24] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0000649 OMIM:125310 IEA P HPO:iea[2009-02-17] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0009830 OMIM:125310 IEA HP:0040283 P HPO:skoehler[2010-06-20] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0007236 OMIM:125310 IEA P HPO:iea[2009-02-17] +OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0003657 PMID:10371078 PCS P HPO:probinson[2022-09-05] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0007634 OMIM:125310 IEA P HPO:iea[2009-02-17] OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy HP:0000006 PMID:8878478 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-04-24] OMIM:615922 Retinitis pigmentosa 70 HP:0001133 PMID:24419317 PCS 4/5 P HPO:probinson[2023-01-26] @@ -83136,6 +83805,7 @@ OMIM:300882 Cornelia de Lange syndrome 5 HP:0000135 OMIM:300882 TAS P HPO:s OMIM:300882 Cornelia de Lange syndrome 5 HP:0000233 PMID:22885700 IEA 4/5 P HPO:probinson[2013-03-23] OMIM:300882 Cornelia de Lange syndrome 5 HP:0000470 OMIM:300882 TAS P HPO:skoehler[2014-10-06] OMIM:300882 Cornelia de Lange syndrome 5 HP:0005280 OMIM:300882 TAS P HPO:skoehler[2014-10-06] +OMIM:300882 Cornelia de Lange syndrome 5 HP:0000708 OMIM:300882 TAS P HPO:skoehler[2014-10-06] OMIM:300882 Cornelia de Lange syndrome 5 HP:0000506 OMIM:300882 TAS P HPO:skoehler[2014-10-06] OMIM:300882 Cornelia de Lange syndrome 5 HP:0000508 PMID:22885700 IEA 2/5 P HPO:probinson[2013-03-23] OMIM:300882 Cornelia de Lange syndrome 5 HP:0000426 PMID:22885700 IEA 4/5 P HPO:probinson[2013-03-23] @@ -83192,6 +83862,7 @@ OMIM:300896 Congenital disorder of glycosylation, type IIm HP:0000303 PMID:2411 OMIM:300896 Congenital disorder of glycosylation, type IIm HP:0011090 PMID:24115232 PCS 1/3 P HPO:probinson[2021-06-15] OMIM:612917 Giacheti syndrome HP:0000098 OMIM:612917 IEA P HPO:skoehler[2010-06-20] OMIM:612917 Giacheti syndrome HP:0000276 OMIM:612917 IEA P HPO:skoehler[2010-06-19] +OMIM:612917 Giacheti syndrome HP:0002167 OMIM:612917 IEA P HPO:skoehler[2010-06-19] OMIM:612917 Giacheti syndrome HP:0001328 OMIM:612917 IEA P HPO:skoehler[2010-06-19] OMIM:612917 Giacheti syndrome HP:0000348 OMIM:612917 IEA P HPO:skoehler[2010-06-19] OMIM:612917 Giacheti syndrome HP:0000601 OMIM:612917 IEA P HPO:skoehler[2010-06-19] @@ -83261,6 +83932,40 @@ OMIM:612650 Ciliary dyskinesia, primary, 12 HP:0003546 PMID:19200523 PCS P DECIPHER:43 7q11.23 duplication syndrome HP:0000750 DECIPHER:43 IEA P HPO:skoehler[2013-05-29] DECIPHER:43 7q11.23 duplication syndrome HP:0000736 DECIPHER:43 IEA P HPO:skoehler[2013-05-29] DECIPHER:43 7q11.23 duplication syndrome HP:0001249 DECIPHER:43 IEA P HPO:skoehler[2013-05-29] +OMIM:620184 Atelis syndrome 1 HP:0001276 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000343 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0001252 PMID:36333305 PCS 2/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0003593 PMID:36333305 PCS 7/7 C HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0040262 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000518 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000958 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0002719 PMID:36333305 PCS 2/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0001629 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0001903 PMID:36333305 PCS 2/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000957 PMID:36333305 PCS 3/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0008551 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0008454 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0007400 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000218 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000670 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000494 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0001882 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000276 PMID:36333305 PCS 2/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000331 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0011968 PMID:36333305 PCS 3/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0002110 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0001263 PMID:36333305 PCS 7/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0012366 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0031382 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000729 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000448 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000007 PMID:36333305 PCS I HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000964 PMID:36333305 PCS 2/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0000821 PMID:36333305 PCS 2/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0001319 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0001631 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0007018 PMID:36333305 PCS 2/7 P HPO:probinson[2023-06-11] +OMIM:620184 Atelis syndrome 1 HP:0001873 PMID:36333305 PCS 1/7 P HPO:probinson[2023-06-11] OMIM:300909 Acquired angioedema HP:0100665 OMIM:300909 IEA P HPO:skoehler[2015-01-19] OMIM:616436 Epilepsy, familial temporal lobe, 7 HP:0003829 PMID:26046367 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2021-06-26] OMIM:616436 Epilepsy, familial temporal lobe, 7 HP:0011158 PMID:26046367 PCS P HPO:skoehler[2015-12-30];HPO:probinson[2021-06-26] @@ -83724,6 +84429,7 @@ OMIM:616393 Intellectual developmental disorder, autosomal dominant 38 HP:00114 OMIM:616393 Intellectual developmental disorder, autosomal dominant 38 HP:0010864 PMID:24697219 PCS 2/2 P HPO:skoehler[2015-12-30];HPO:probinson[2022-06-19] OMIM:616393 Intellectual developmental disorder, autosomal dominant 38 HP:0012469 PMID:24697219 PCS 1/2 P HPO:probinson[2022-06-19] OMIM:616393 Intellectual developmental disorder, autosomal dominant 38 HP:0000718 PMID:24697219 PCS 2/2 P HPO:skoehler[2015-06-22];HPO:probinson[2022-06-19] +OMIM:616393 Intellectual developmental disorder, autosomal dominant 38 HP:0000733 PMID:24697219 PCS 1/2 P HPO:probinson[2022-06-19] OMIM:616393 Intellectual developmental disorder, autosomal dominant 38 HP:0000218 PMID:24697219 PCS 1/2 P HPO:probinson[2022-06-19] OMIM:616393 Intellectual developmental disorder, autosomal dominant 38 HP:0002714 PMID:24697219 PCS 2/2 P HPO:skoehler[2015-06-22];HPO:probinson[2022-06-19] OMIM:616393 Intellectual developmental disorder, autosomal dominant 38 HP:0003763 PMID:24697219 PCS 1/2 P HPO:probinson[2022-06-19] @@ -83753,6 +84459,7 @@ OMIM:617933 Epileptic encephalopathy, early infantile, 61 HP:0005484 PMID:27066 OMIM:617933 Epileptic encephalopathy, early infantile, 61 HP:0003593 PMID:27066583 PCS 1/1 C HPO:skoehler[2018-10-08];HPO:probinson[2022-09-26] OMIM:617933 Epileptic encephalopathy, early infantile, 61 HP:0001290 PMID:27066583 PCS 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-26] OMIM:617933 Epileptic encephalopathy, early infantile, 61 HP:0012471 PMID:27066583 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2022-09-26] +OMIM:617933 Epileptic encephalopathy, early infantile, 61 HP:0000817 PMID:27066583 PCS 1/1 P HPO:probinson[2022-09-26] OMIM:617933 Epileptic encephalopathy, early infantile, 61 HP:0000007 PMID:27066583 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2022-09-26] OMIM:617933 Epileptic encephalopathy, early infantile, 61 HP:0000648 PMID:27066583 PCS 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-26] OMIM:617933 Epileptic encephalopathy, early infantile, 61 HP:0200134 PMID:27066583 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-09-26] @@ -84322,6 +85029,7 @@ OMIM:617258 Myopathy, myofibrillar, 8 HP:0001653 PMID:27745833 PCS 1/9 P HPO OMIM:617258 Myopathy, myofibrillar, 8 HP:0000347 PMID:10655510 PCS 1/9 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-26] OMIM:617258 Myopathy, myofibrillar, 8 HP:0003798 PMID:27745833 PCS 2/9 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-26] OMIM:617258 Myopathy, myofibrillar, 8 HP:0003677 PMID:27745833 PCS C HPO:skoehler[2017-07-13];HPO:probinson[2021-02-26] +OMIM:617258 Myopathy, myofibrillar, 8 HP:0001611 PMID:10655510 PCS 9/9 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-26] OMIM:617258 Myopathy, myofibrillar, 8 HP:0000467 PMID:10655510 PCS 2/9 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-26] OMIM:614751 Neuronopathy, distal hereditary motor, type VB HP:0003621 PMID:22703882 PCS 2/3 C HPO:probinson[2023-01-15] OMIM:614751 Neuronopathy, distal hereditary motor, type VB HP:0011808 PMID:22703882 PCS 1/4 P HPO:probinson[2023-01-15] @@ -84496,6 +85204,7 @@ OMIM:617270 Mental retardation, autosomal recessive 58 HP:0003593 PMID:25847581 OMIM:617270 Mental retardation, autosomal recessive 58 HP:0011856 PMID:25847581 PCS 2/2 P HPO:probinson[2017-06-17] OMIM:617270 Mental retardation, autosomal recessive 58 HP:0000718 PMID:25847581 PCS 2/2 P HPO:skoehler[2017-07-13];HPO:probinson[2022-04-10] OMIM:617270 Mental retardation, autosomal recessive 58 HP:0000007 PMID:25847581 PCS I HPO:probinson[2017-06-17] +OMIM:617270 Mental retardation, autosomal recessive 58 HP:0000733 PMID:25847581 PCS 2/2 P HPO:probinson[2017-06-17] OMIM:617270 Mental retardation, autosomal recessive 58 HP:0100716 PMID:25847581 PCS 2/2 P HPO:probinson[2017-06-17] OMIM:617270 Mental retardation, autosomal recessive 58 HP:0001249 PMID:25847581 PCS 2/2 P HPO:probinson[2017-06-17] OMIM:617270 Mental retardation, autosomal recessive 58 HP:0001347 PMID:25847581 PCS 2/2 P HPO:probinson[2017-06-17] @@ -84871,6 +85580,7 @@ OMIM:309520 Lujan-Fryns syndrome HP:0000508 PMID:17369503 PCS 2/7 P HPO:prob OMIM:309520 Lujan-Fryns syndrome HP:0000426 OMIM:309520 IEA P HPO:iea[2009-02-17] OMIM:309520 Lujan-Fryns syndrome HP:0000767 OMIM:309520 IEA P HPO:iea[2009-02-17] OMIM:309520 Lujan-Fryns syndrome HP:0000327 OMIM:309520 IEA P HPO:iea[2009-02-17] +OMIM:309520 Lujan-Fryns syndrome HP:0000722 OMIM:309520 IEA P HPO:iea[2009-02-17] OMIM:309520 Lujan-Fryns syndrome HP:0000744 OMIM:309520 IEA P HPO:iea[2009-02-17] OMIM:309520 Lujan-Fryns syndrome HP:0008544 PMID:17369503 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-07-17] OMIM:309520 Lujan-Fryns syndrome HP:0002007 OMIM:309520 IEA P HPO:iea[2009-02-17] @@ -84879,6 +85589,7 @@ OMIM:309520 Lujan-Fryns syndrome HP:0001631 OMIM:309520 IEA P HPO:iea[2009- OMIM:309520 Lujan-Fryns syndrome HP:0000446 OMIM:309520 IEA P HPO:iea[2009-02-17] OMIM:309520 Lujan-Fryns syndrome HP:0000347 PMID:17369503 PCS 5/7 P HPO:iea[2009-02-17];HPO:probinson[2022-07-17] OMIM:309520 Lujan-Fryns syndrome HP:0000369 OMIM:309520 IEA P HPO:iea[2009-02-17] +OMIM:309520 Lujan-Fryns syndrome HP:0001611 PMID:17369503 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-07-17] OMIM:616185 Ovarian dysgenesis 4 HP:0004325 PMID:25480036 PCS 3/3 P HPO:skoehler[2015-02-22];HPO:probinson[2022-06-11] OMIM:616185 Ovarian dysgenesis 4 HP:0003621 PMID:25480036 PCS 3/3 C HPO:probinson[2022-06-11];HPO:probinson[2022-06-11] OMIM:616185 Ovarian dysgenesis 4 HP:0002750 PMID:25480036 PCS 3/3 P HPO:skoehler[2015-02-22];HPO:probinson[2022-06-11] @@ -85252,10 +85963,13 @@ OMIM:247100 Urbach-Wiethe disease HP:0200034 PMID:12603844 PCS 7/10 P HPO:pr OMIM:247100 Urbach-Wiethe disease HP:0000962 PMID:12603844 PCS 1/10 P HPO:probinson[2022-06-17] OMIM:247100 Urbach-Wiethe disease HP:0200041 PMID:12603844 PCS 1/10 P HPO:probinson[2022-06-17] OMIM:174200 Polydactyly, postaxial, type A1 HP:0001199 OMIM:174200 TAS HP:0040283 P HPO:skoehler[2015-11-15] -OMIM:174200 Polydactyly, postaxial, type A1 HP:0100258 OMIM:174200 TAS P HPO:skoehler[2015-11-15] -OMIM:174200 Polydactyly, postaxial, type A1 HP:0001162 OMIM:174200 IEA P HPO:iea[2009-02-17] -OMIM:174200 Polydactyly, postaxial, type A1 HP:0001159 OMIM:174200 TAS HP:0040283 P HPO:skoehler[2015-11-15] -OMIM:174200 Polydactyly, postaxial, type A1 HP:0000006 OMIM:174200 TAS I HPO:skoehler[2015-12-30] +OMIM:174200 Polydactyly, postaxial, type A1 HP:0001177 PMID:18000979 PCS 1/3 P HPO:probinson[2023-06-08] +OMIM:174200 Polydactyly, postaxial, type A1 HP:0003577 PMID:18000979;PMID:9042919 PCS 14/14 C HPO:probinson[2023-06-08] +OMIM:174200 Polydactyly, postaxial, type A1 HP:0001162 PMID:18000979;PMID:9042919 PCS 13/14 P HPO:iea[2009-02-17];HPO:probinson[2023-06-08];HPO:probinson[2023-06-08] +OMIM:174200 Polydactyly, postaxial, type A1 HP:0001159 PMID:9042919 PCS 1/11 P HPO:skoehler[2015-11-15];HPO:probinson[2023-06-08] +OMIM:174200 Polydactyly, postaxial, type A1 HP:0001830 PMID:9042919 PCS 11/11 P HPO:probinson[2023-06-08] +OMIM:174200 Polydactyly, postaxial, type A1 HP:0001841 PMID:18000979 PCS 2/3 P HPO:probinson[2023-06-08] +OMIM:174200 Polydactyly, postaxial, type A1 HP:0000006 PMID:9042919 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2023-06-08] OMIM:174200 Polydactyly, postaxial, type A1 HP:0011304 OMIM:174200 TAS HP:0040283 P HPO:skoehler[2015-11-15] OMIM:270960 Spermatogenic failure 4 HP:0003251 PMID:14643120 PCS 2/2 MALE P HPO:probinson[2022-07-03] OMIM:270960 Spermatogenic failure 4 HP:0011462 PMID:14643120 PCS 2/2 C HPO:probinson[2022-07-03] @@ -85332,6 +86046,7 @@ OMIM:300263 Siderius X-linked mental retardation syndrome HP:0000664 OMIM:30026 OMIM:300263 Siderius X-linked mental retardation syndrome HP:0001763 OMIM:300263 TAS 1/7 P HPO:skoehler[2017-07-13];HPO:probinson[2021-09-30] OMIM:300263 Siderius X-linked mental retardation syndrome HP:0000336 OMIM:300263 TAS P HPO:skoehler[2017-07-13] OMIM:300263 Siderius X-linked mental retardation syndrome HP:0001249 PMID:17594395 PCS 1/1 P HPO:probinson[2021-09-30] +OMIM:300263 Siderius X-linked mental retardation syndrome HP:0001611 OMIM:300263 TAS P HPO:skoehler[2017-07-13] OMIM:121201 Epilepsy, benign neonatal, 2 HP:0002069 OMIM:121201 TAS HP:0003623 P HPO:probinson[2009-02-17] OMIM:121201 Epilepsy, benign neonatal, 2 HP:0002266 OMIM:121201 TAS P HPO:probinson[2009-02-17] OMIM:121201 Epilepsy, benign neonatal, 2 NOT HP:0001263 OMIM:121201 TAS P HPO:probinson[2014-05-22] @@ -85706,6 +86421,7 @@ OMIM:144300 Hyperlipoproteinemia, type II, and deafness HP:0002635 OMIM:144300 OMIM:144300 Hyperlipoproteinemia, type II, and deafness HP:0000006 OMIM:144300 IEA I HPO:iea[2009-02-17] OMIM:144300 Hyperlipoproteinemia, type II, and deafness HP:0000951 OMIM:144300 IEA P HPO:iea[2009-02-17] OMIM:603204 Epilepsy, nocturnal frontal lobe, 2 HP:0002069 OMIM:603204 TAS HP:0040283 P HPO:skoehler[2013-01-21] +OMIM:603204 Epilepsy, nocturnal frontal lobe, 2 HP:0000708 OMIM:603204 TAS 12/20 P HPO:skoehler[2013-01-21] OMIM:603204 Epilepsy, nocturnal frontal lobe, 2 HP:0002133 OMIM:603204 TAS HP:0040283 P HPO:skoehler[2013-01-21] OMIM:603204 Epilepsy, nocturnal frontal lobe, 2 HP:0000716 OMIM:603204 TAS P HPO:skoehler[2015-12-30] OMIM:603204 Epilepsy, nocturnal frontal lobe, 2 HP:0000718 OMIM:603204 TAS HP:0040283 P HPO:skoehler[2013-01-21] @@ -85891,6 +86607,7 @@ OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000407 PMID:34186028 PCS 1/8 P HPO:probinson[2021-10-30];HPO:probinson[2021-10-31] OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000729 PMID:34186028 PCS 3/7 P HPO:probinson[2021-10-30];HPO:probinson[2021-10-31] OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000601 PMID:34186028 PCS 1/9 P HPO:probinson[2021-10-31] +OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000722 PMID:34186028 PCS 1/9 P HPO:probinson[2021-10-30];HPO:probinson[2021-10-31] OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0001338 PMID:34186028 PCS 2/9 P HPO:probinson[2021-10-31] OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000648 PMID:34186028 PCS 1/9 P HPO:probinson[2021-10-30];HPO:probinson[2021-10-31] OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0007874 PMID:34186028 PCS 1/9 P HPO:probinson[2021-10-31] @@ -85914,6 +86631,7 @@ OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000418 PMID:34186028 PCS 1/9 P HPO:probinson[2021-10-31] OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000739 PMID:34186028 PCS 3/9 P HPO:probinson[2021-10-30];HPO:probinson[2021-10-31] OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000414 PMID:34186028 PCS 2/9 P HPO:probinson[2021-10-31] +OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000733 PMID:34186028 PCS 1/9 P HPO:probinson[2021-10-30];HPO:probinson[2021-10-31] OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000218 PMID:34186028 PCS 2/9 P HPO:probinson[2021-10-30];HPO:probinson[2021-10-31] OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0009765 PMID:34186028 PCS 2/9 P HPO:probinson[2021-10-31];HPO:probinson[2021-10-31] OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000256 PMID:34186028 PCS 1/9 P HPO:probinson[2021-10-31] @@ -86217,6 +86935,7 @@ OMIM:618397 Combined oxidative phosphorylation deficiency 39 HP:0001272 PMID:26 OMIM:618397 Combined oxidative phosphorylation deficiency 39 HP:0012707 PMID:26016410 PCS 1/1 P HPO:probinson[2023-02-09];HPO:probinson[2023-02-09] OMIM:618397 Combined oxidative phosphorylation deficiency 39 HP:0012708 PMID:26016410 PCS 1/1 P HPO:probinson[2023-02-09];HPO:probinson[2023-02-09] OMIM:618397 Combined oxidative phosphorylation deficiency 39 HP:0100651 PMID:22700954 PCS 2/2 P HPO:probinson[2023-02-09] +OMIM:618397 Combined oxidative phosphorylation deficiency 39 HP:0000817 PMID:26016410 PCS 2/2 P HPO:probinson[2023-02-09];HPO:probinson[2023-02-09] OMIM:618397 Combined oxidative phosphorylation deficiency 39 HP:0002119 OMIM:618397 IEA P HPO:skoehler[2019-09-07] OMIM:618397 Combined oxidative phosphorylation deficiency 39 HP:0001302 OMIM:618397 IEA HP:0040284 P HPO:skoehler[2019-09-07] OMIM:618397 Combined oxidative phosphorylation deficiency 39 HP:0001688 PMID:26016410 PCS 2/2 P HPO:probinson[2023-02-09];HPO:probinson[2023-02-09] @@ -86537,6 +87256,7 @@ OMIM:602481 Migraine, familial hemiplegic, 2 HP:0001337 PMID:15459825 PCS 1/8 OMIM:602481 Migraine, familial hemiplegic, 2 HP:0001259 PMID:15459825 PCS 6/8 P HPO:iea[2009-02-17];HPO:probinson[2022-09-02] DECIPHER:81 15q26 overgrowth syndrome HP:0000343 PMID:10951463 PCS 5/5 P HPO:iea[2012-04-24] DECIPHER:81 15q26 overgrowth syndrome HP:0000486 PMID:19133692 PCS 3/28 P HPO:iea[2012-04-24] +DECIPHER:81 15q26 overgrowth syndrome HP:0002167 PMID:20603595 PCS HP:0040281 P HPO:iea[2012-04-24] DECIPHER:81 15q26 overgrowth syndrome HP:0001156 PMID:12404101;PMID:20603595 PCS 3/26 P HPO:iea[2012-04-24] DECIPHER:81 15q26 overgrowth syndrome HP:0100490 PMID:12404101;PMID:20603595 PCS 4/26 P HPO:iea[2012-04-24] DECIPHER:81 15q26 overgrowth syndrome HP:0000085 PMID:19133692;PMID:20603595 PCS 4/22 P HPO:iea[2012-04-24] @@ -86664,6 +87384,7 @@ OMIM:618354 Neurodevelopmental disorder and language delay with or without struc OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities HP:0000316 PMID:30595372 PCS 1/16 P HPO:skoehler[2019-04-18] OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities HP:0000954 PMID:30595372 PCS 5/16 P HPO:skoehler[2019-04-18];HPO:probinson[2023-03-10] OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities HP:0000337 PMID:30595372 PCS 2/16 P HPO:skoehler[2019-04-18] +OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities HP:0000733 PMID:30595372 PCS 1/16 P HPO:probinson[2023-03-10] OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities HP:0002119 PMID:30595372 PCS 4/16 P HPO:skoehler[2019-04-18];HPO:probinson[2023-03-10] OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities HP:0000218 PMID:30595372 PCS 2/16 P HPO:skoehler[2019-04-18] OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities HP:0000455 PMID:30595372 PCS 3/16 P HPO:skoehler[2019-04-18];HPO:probinson[2023-03-10] @@ -86914,6 +87635,49 @@ OMIM:224100 Anemia, dyserythropoietic congenital, type II HP:0001923 PMID:19561 OMIM:224100 Anemia, dyserythropoietic congenital, type II HP:0000952 OMIM:224100 IEA P HPO:skoehler[2010-06-18] OMIM:224100 Anemia, dyserythropoietic congenital, type II HP:0001744 OMIM:224100 IEA P HPO:skoehler[2010-06-18] OMIM:224100 Anemia, dyserythropoietic congenital, type II HP:0003655 OMIM:224100 IEA P HPO:iea[2009-02-17] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000286 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000343 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000540 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0001992 PMID:33979636 PCS 0/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0001250 PMID:33979636 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0001252 PMID:33979636 PCS 3/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0001251 PMID:33979636 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0004780 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0003593 PMID:33979636 PCS 4/4 C HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0005274 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0011856 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0010801 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0006191 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000958 PMID:33979636 PCS 4/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0008593 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000319 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000718 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000414 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000219 PMID:33979636 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0012071 PMID:33979636 PCS 0/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000218 PMID:33979636 PCS 6/8 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0001324 PMID:33979636 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000411 PMID:33979636 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0001249 PMID:33979636 PCS 3/3 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0009748 PMID:33979636 PCS 3/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000577 PMID:33979636 PCS 4/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000396 PMID:33979636 PCS 2/8 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000494 PMID:33979636 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000670 PMID:33979636 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000750 PMID:33979636 PCS 4/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0002133 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0031936 PMID:33979636 PCS 3/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0001382 PMID:33979636 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0001263 PMID:33979636 PCS 4/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0003160 PMID:33979636 PCS 0/3 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0005280 PMID:33979636 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0032152 PMID:33979636 PCS 3/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000448 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000007 PMID:33979636 PCS I HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000964 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000527 PMID:33979636 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0000307 PMID:33979636 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620191 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities HP:0001513 PMID:33979636 PCS HP:0011463 3/4 P HPO:probinson[2023-06-11] OMIM:609265 Li-Fraumeni syndrome 2 HP:0003002 PMID:11479205 PCS P HPO:probinson[2013-01-09] OMIM:609265 Li-Fraumeni syndrome 2 HP:0002858 PMID:11479205 PCS P HPO:probinson[2013-03-26] OMIM:609265 Li-Fraumeni syndrome 2 HP:0009733 PMID:10617473 PCS P HPO:probinson[2013-03-26] @@ -87033,6 +87797,7 @@ OMIM:155755 Melanoma-Astrocytoma syndrome HP:0009592 OMIM:155755 TAS P HPO: OMIM:155755 Melanoma-Astrocytoma syndrome HP:0000006 OMIM:155755 TAS I HPO:probinson[2009-02-17] OMIM:613229 TRICHOTILLOMANIA HP:0012167 OMIM:613229 IEA P HPO:skoehler[2015-01-27] OMIM:613229 TRICHOTILLOMANIA HP:0001596 OMIM:613229 IEA P HPO:skoehler[2010-06-20] +OMIM:613229 TRICHOTILLOMANIA HP:0000722 OMIM:613229 IEA P HPO:skoehler[2010-06-20] OMIM:613229 TRICHOTILLOMANIA HP:0001426 OMIM:613229 IEA I HPO:skoehler[2010-06-19] OMIM:613229 TRICHOTILLOMANIA HP:0000006 OMIM:613229 IEA I HPO:skoehler[2010-06-19] OMIM:619062 Mitochondrial complex IV deficiency, nuclear type 18 HP:0003577 PMID:31155743 PCS 1/2 C HPO:probinson[2020-12-08] @@ -87056,6 +87821,7 @@ OMIM:616351 Mental retardation, autosomal dominant 34 HP:0001773 PMID:25533962 OMIM:616351 Mental retardation, autosomal dominant 34 HP:0000463 PMID:25533962 PCS 1/3 P HPO:skoehler[2015-09-16];HPO:probinson[2022-04-12] OMIM:616351 Mental retardation, autosomal dominant 34 HP:0100704 PMID:25533962 PCS 1/3 P HPO:skoehler[2015-09-16];HPO:probinson[2022-04-12] OMIM:616351 Mental retardation, autosomal dominant 34 HP:0000319 PMID:25533962 PCS 1/3 P HPO:skoehler[2015-09-16];HPO:probinson[2022-04-12] +OMIM:616351 Mental retardation, autosomal dominant 34 HP:0000733 PMID:25533962 PCS 1/3 P HPO:skoehler[2015-09-16];HPO:probinson[2022-04-12] OMIM:616351 Mental retardation, autosomal dominant 34 HP:0006610 PMID:25533962 PCS 1/3 P HPO:skoehler[2015-09-16];HPO:probinson[2022-04-12] OMIM:616351 Mental retardation, autosomal dominant 34 HP:0001488 PMID:25533962 PCS 1/3 P HPO:skoehler[2015-09-16];HPO:probinson[2022-04-12] OMIM:616351 Mental retardation, autosomal dominant 34 HP:0001249 PMID:25533962 PCS 3/3 P HPO:skoehler[2015-09-16];HPO:probinson[2022-04-12] @@ -87127,6 +87893,49 @@ OMIM:193100 Hypophosphatemic rickets, autosomal dominant HP:0002749 OMIM:193100 OMIM:193100 Hypophosphatemic rickets, autosomal dominant HP:0004912 OMIM:193100 IEA P HPO:skoehler[2015-01-27] OMIM:193100 Hypophosphatemic rickets, autosomal dominant HP:0000006 OMIM:193100 IEA I HPO:iea[2009-02-17] OMIM:193100 Hypophosphatemic rickets, autosomal dominant HP:0002148 OMIM:193100 IEA P HPO:iea[2009-02-17] +OMIM:620185 Atelis syndrome 2 HP:0001298 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000286 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0030752 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0001310 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0001250 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0002020 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0012745 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0001270 PMID:36333305 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0001903 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000739 PMID:36333305 PCS 3/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000519 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000954 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000414 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0030084 PMID:36333305 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0002714 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000218 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0001643 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000411 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0001763 PMID:36333305 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0001642 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000179 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0001348 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000699 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000252 PMID:36333305 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0007968 PMID:36333305 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0007902 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000771 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000276 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0002094 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0034349 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0002808 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000448 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000007 PMID:36333305 PCS I HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0002925 PMID:36333305 PCS 2/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000568 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0002007 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0007018 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000960 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0001873 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000842 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000369 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000347 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] +OMIM:620185 Atelis syndrome 2 HP:0000325 PMID:36333305 PCS 1/4 P HPO:probinson[2023-06-11] OMIM:617729 Galloway-Mowat syndrome 3 HP:0000286 OMIM:617729 IEA P HPO:skoehler[2018-10-08] OMIM:617729 Galloway-Mowat syndrome 3 HP:0000486 OMIM:617729 IEA P HPO:skoehler[2018-10-08] OMIM:617729 Galloway-Mowat syndrome 3 HP:0004322 OMIM:617729 IEA P HPO:skoehler[2019-04-18] @@ -87300,6 +88109,7 @@ OMIM:130720 Lateral meningocele syndrome HP:0001537 PMID:25394726 PCS 1/6 P OMIM:130720 Lateral meningocele syndrome HP:0000405 OMIM:130720 IEA P HPO:iea[2009-02-17] OMIM:130720 Lateral meningocele syndrome HP:0000006 PMID:25394726 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-12-18] OMIM:130720 Lateral meningocele syndrome HP:0000369 PMID:25394726 PCS 6/6 P HPO:iea[2009-02-17];HPO:probinson[2022-12-18] +OMIM:130720 Lateral meningocele syndrome HP:0001611 PMID:25394726 PCS 4/4 P HPO:probinson[2022-12-18] OMIM:130720 Lateral meningocele syndrome HP:0003577 PMID:25394726 PCS 6/6 C HPO:probinson[2022-12-18] OMIM:130720 Lateral meningocele syndrome HP:0000343 OMIM:130720 TAS P HPO:probinson[2012-05-01] OMIM:130720 Lateral meningocele syndrome HP:0004586 OMIM:130720 IEA P HPO:iea[2009-02-17] @@ -87327,21 +88137,24 @@ OMIM:130720 Lateral meningocele syndrome HP:0000347 PMID:25394726 PCS 6/6 P OMIM:130720 Lateral meningocele syndrome HP:0004942 PMID:25394726 PCS 2/6 P HPO:probinson[2022-12-18] OMIM:606963 Pulmonary disease, chronic obstructive HP:0006510 OMIM:606963 TAS P HPO:skoehler[2013-01-09] OMIM:166200 Osteogenesis imperfecta, type I HP:0000362 OMIM:166200 IEA P HPO:iea[2009-02-17] +OMIM:166200 Osteogenesis imperfecta, type I HP:0001385 PMID:36338653 PCS 1/1 P HPO:probinson[2023-06-11] OMIM:166200 Osteogenesis imperfecta, type I HP:0000365 OMIM:166200 TAS HP:0003581 P HPO:iea[2009-02-17] OMIM:166200 Osteogenesis imperfecta, type I HP:0002980 OMIM:166200 IEA P HPO:iea[2009-02-17] OMIM:166200 Osteogenesis imperfecta, type I HP:0003321 OMIM:166200 IEA P HPO:iea[2009-02-17] OMIM:166200 Osteogenesis imperfecta, type I HP:0001382 OMIM:166200 IEA P HPO:iea[2009-02-17] -OMIM:166200 Osteogenesis imperfecta, type I HP:0000592 OMIM:166200 IEA P HPO:iea[2009-02-17] +OMIM:166200 Osteogenesis imperfecta, type I HP:0000592 PMID:36338653 PCS 1/1 P HPO:iea[2009-02-17] +OMIM:166200 Osteogenesis imperfecta, type I HP:0003593 PMID:36338653 PCS 1/1 C HPO:probinson[2023-06-11] +OMIM:166200 Osteogenesis imperfecta, type I HP:0006094 PMID:36338653 PCS 1/1 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] OMIM:166200 Osteogenesis imperfecta, type I HP:0001507 OMIM:166200 IEA P HPO:iea[2009-02-17] OMIM:166200 Osteogenesis imperfecta, type I HP:0000938 OMIM:166200 TAS HP:0012825 P HPO:probinson[2009-02-17] +OMIM:166200 Osteogenesis imperfecta, type I HP:0002757 PMID:36338653 PCS 1/1 P HPO:iea[2009-02-17] OMIM:166200 Osteogenesis imperfecta, type I HP:0000703 OMIM:166200 TAS HP:0040283 P HPO:probinson[2009-02-17] OMIM:166200 Osteogenesis imperfecta, type I HP:0000978 OMIM:166200 IEA P HPO:iea[2009-02-17] -OMIM:166200 Osteogenesis imperfecta, type I HP:0002757 OMIM:166200 IEA P HPO:iea[2009-02-17] -OMIM:166200 Osteogenesis imperfecta, type I HP:0002659 OMIM:166200 TAS P HPO:probinson[2009-02-17] +OMIM:166200 Osteogenesis imperfecta, type I HP:0002659 PMID:36338653 PCS 1/1 P HPO:probinson[2009-02-17];HPO:probinson[2023-06-11] OMIM:166200 Osteogenesis imperfecta, type I HP:0002645 OMIM:166200 IEA P HPO:iea[2009-02-17] -OMIM:166200 Osteogenesis imperfecta, type I HP:0000006 OMIM:166200 IEA I HPO:iea[2009-02-17] OMIM:166200 Osteogenesis imperfecta, type I HP:0000963 OMIM:166200 IEA P HPO:iea[2009-02-17] OMIM:166200 Osteogenesis imperfecta, type I HP:0001634 OMIM:166200 IEA P HPO:iea[2009-02-17] +OMIM:166200 Osteogenesis imperfecta, type I HP:0000006 OMIM:166200 IEA I HPO:iea[2009-02-17] OMIM:166200 Osteogenesis imperfecta, type I HP:0004942 OMIM:166200 IEA P HPO:iea[2009-02-17] OMIM:276901 Usher syndrome, type IIA HP:0000007 OMIM:276901 IEA I HPO:iea[2009-02-17] OMIM:276901 Usher syndrome, type IIA HP:0000510 OMIM:276901 IEA P HPO:iea[2009-02-17] @@ -87871,6 +88684,7 @@ OMIM:192430 Velocardiofacial syndrome HP:0002901 PMID:1956057 PCS 5/38 P HPO OMIM:192430 Velocardiofacial syndrome HP:0000201 OMIM:192430 TAS P HPO:skoehler[2009-02-17] OMIM:192430 Velocardiofacial syndrome HP:0000006 OMIM:192430 IEA I HPO:iea[2009-02-17] OMIM:192430 Velocardiofacial syndrome HP:0000028 PMID:1956057 IEA HP:0003577 3/38 P HP:probinson[2019-02-27] +OMIM:192430 Velocardiofacial syndrome HP:0001611 OMIM:192430 IEA P HPO:iea[2009-02-17] OMIM:265000 Escobar syndrome HP:0000286 OMIM:265000 IEA P HPO:iea[2009-02-17] OMIM:265000 Escobar syndrome HP:0008729 OMIM:265000 IEA P HPO:iea[2009-02-17] OMIM:265000 Escobar syndrome HP:0004322 PMID:16826520;PMID:25608830 PCS 10/12 P HPO:iea[2009-02-17];HPO:probinson[2022-06-24];HPO:probinson[2022-06-24] @@ -88638,6 +89452,64 @@ OMIM:614181 Retinitis pigmentosa 62 HP:0000543 PMID:21835304 PCS 2/8 P HPO:s OMIM:614181 Retinitis pigmentosa 62 HP:0000510 PMID:21835304 PCS P HPO:skoehler[2015-01-19];HPO:probinson[2022-11-06] OMIM:614181 Retinitis pigmentosa 62 HP:0007843 PMID:21835304 PCS 4/8 P HPO:probinson[2022-11-06] OMIM:614181 Retinitis pigmentosa 62 HP:0011504 PMID:21835304 PCS 1/8 P HPO:probinson[2022-11-06] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0002069 PMID:31278393 PCS 2/7 P HPO:probinson[2023-06-15];HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000486 PMID:31278393 PCS 3/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001250 PMID:31278393 PCS 8/8 P HPO:probinson[2023-06-15];HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001252 PMID:31278393 PCS 7/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0030891 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0012469 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0010055 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001763 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001249 PMID:31278393 PCS 7/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000996 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001385 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000054 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001344 PMID:31278393 PCS 5/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001266 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000490 PMID:31278393 PCS 3/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001263 PMID:31278393 PCS 8/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000294 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0011800 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001182 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000729 PMID:31278393 PCS 4/6 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000767 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0004209 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0008445 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0009778 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000322 PMID:31278393 PCS 3/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0002305 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000006 PMID:31278393 PCS I HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000324 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001776 PMID:31278393 PCS 2/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0004467 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000582 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000463 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0002121 PMID:31278393 PCS 4/7 P HPO:probinson[2023-06-15];HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000262 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0031491 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0007021 PMID:31278393 PCS 1/3 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000337 PMID:31278393 PCS 4/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000414 PMID:31278393 PCS 2/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001943 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0002119 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000218 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000577 PMID:31278393 PCS 2/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000154 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000473 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000750 PMID:31278393 PCS 8/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0003189 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0002650 PMID:31278393 PCS 3/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0031936 PMID:31278393 PCS 8/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0006915 PMID:31278393 PCS 2/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000470 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0005280 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0011304 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000506 PMID:31278393 PCS 1/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0007099 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000508 PMID:31278393 PCS 2/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0001357 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000347 PMID:31278393 PCS 4/7 P HPO:probinson[2023-06-15] +OMIM:620224 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures HP:0000028 PMID:31278393 PCS 1/8 P HPO:probinson[2023-06-15] OMIM:300471 Cubitus valgus with mental retardation and unusual facies HP:0000252 OMIM:300471 IEA P HPO:iea[2009-02-17] OMIM:300471 Cubitus valgus with mental retardation and unusual facies HP:0000494 OMIM:300471 IEA P HPO:iea[2009-02-17] OMIM:300471 Cubitus valgus with mental retardation and unusual facies HP:0002342 OMIM:300471 IEA P HPO:iea[2009-02-17] @@ -88875,6 +89747,7 @@ OMIM:618744 Epileptic encephalopathy, early infantile, 83 HP:0001250 PMID:31820 OMIM:618744 Epileptic encephalopathy, early infantile, 83 HP:0002120 PMID:31820119 PCS 9/13 P HPO:probinson[2020-04-13] OMIM:618744 Epileptic encephalopathy, early infantile, 83 HP:0002187 PMID:31820119 PCS P HPO:probinson[2020-04-13] OMIM:618744 Epileptic encephalopathy, early infantile, 83 HP:0000639 PMID:31820119 PCS 3/17 P HPO:probinson[2020-04-13] +OMIM:618744 Epileptic encephalopathy, early infantile, 83 HP:0000817 PMID:31820119 PCS 16/17 P HPO:probinson[2020-04-13] OMIM:618744 Epileptic encephalopathy, early infantile, 83 HP:0012450 PMID:31820119 PCS 7/17 P HPO:probinson[2020-04-13] OMIM:618744 Epileptic encephalopathy, early infantile, 83 HP:0008872 PMID:31820119 PCS 15/17 P HPO:probinson[2020-04-13] OMIM:618744 Epileptic encephalopathy, early infantile, 83 HP:0002857 PMID:31820119 PCS 4/12 P HPO:probinson[2020-04-13] @@ -89517,6 +90390,7 @@ OMIM:617339 Epileptic encephalopathy, early infantile, 51 HP:0032794 PMID:27989 OMIM:617339 Epileptic encephalopathy, early infantile, 51 HP:0032653 PMID:27989324 PCS 3/3 P HPO:probinson[2022-11-07] OMIM:617339 Epileptic encephalopathy, early infantile, 51 HP:0033128 PMID:27989324 PCS 3/3 P HPO:probinson[2022-11-07] OMIM:617339 Epileptic encephalopathy, early infantile, 51 HP:0001508 PMID:27989324 PCS 2/3 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-07] +OMIM:617339 Epileptic encephalopathy, early infantile, 51 HP:0000817 PMID:27989324 PCS 1/3 P HPO:probinson[2022-11-07] OMIM:617339 Epileptic encephalopathy, early infantile, 51 HP:0025336 PMID:27989324 PCS 3/3 P HPO:probinson[2022-11-07] OMIM:617339 Epileptic encephalopathy, early infantile, 51 HP:0000510 PMID:27989324 PCS 1/3 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-07] OMIM:617339 Epileptic encephalopathy, early infantile, 51 HP:0001324 PMID:27989324 PCS 3/3 P HPO:probinson[2022-11-07] @@ -90514,6 +91388,8 @@ OMIM:266900 Senior-Loken syndrome 1 HP:0001249 PMID:9856524 PCS 1/8 P HPO:pr OMIM:266900 Senior-Loken syndrome 1 HP:0000556 PMID:9856524 PCS 5/6 P HPO:probinson[2022-09-03] OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral HP:0007429 OMIM:162260 IEA P HPO:iea[2009-02-17] OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral HP:0002858 OMIM:162260 IEA P HPO:iea[2009-02-17] +OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral HP:0006751 OMIM:162260 IEA P HPO:iea[2009-02-17] +OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral HP:0007576 OMIM:162260 IEA P HPO:iea[2009-02-17] OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral HP:0009589 OMIM:162260 IEA P HPO:skoehler[2010-06-18] OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral HP:0000006 OMIM:162260 IEA I HPO:iea[2009-02-17] OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral HP:0009737 OMIM:162260 IEA P HPO:skoehler[2010-06-20] @@ -90690,6 +91566,7 @@ OMIM:314400 Cardiac valvular dysplasia, X-linked HP:0001634 PMID:17190868 PCS OMIM:314400 Cardiac valvular dysplasia, X-linked HP:0001634 PMID:17190868 PCS 4/30 FEMALE P HPO:probinson[2022-10-11] OMIM:314400 Cardiac valvular dysplasia, X-linked HP:0000336 OMIM:314400 IEA HP:0040284 P HPO:skoehler[2019-09-07] OMIM:314400 Cardiac valvular dysplasia, X-linked HP:0000973 OMIM:314400 IEA HP:0040284 P HPO:skoehler[2019-09-07] +OMIM:602081 Speech-language disorder-1 HP:0006977 PMID:11586359 PCS P HPO:probinson[2022-08-27] OMIM:602081 Speech-language disorder-1 HP:0000750 PMID:11586359 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-08-27] OMIM:602081 Speech-language disorder-1 HP:0002134 PMID:11586359 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-08-27] OMIM:602081 Speech-language disorder-1 HP:0011463 PMID:11586359 PCS C HPO:probinson[2022-08-27] @@ -90726,6 +91603,7 @@ OMIM:611943 Riddle syndrome HP:0000007 PMID:19203578 PCS I HPO:probinson[20 OMIM:611943 Riddle syndrome HP:0002206 OMIM:611943 TAS HP:0040283 P HPO:skoehler[2014-08-24] OMIM:611943 Riddle syndrome HP:0002721 PMID:17940005 PCS P HPO:probinson[2013-04-03] OMIM:611943 Riddle syndrome HP:0004315 PMID:17940005 PCS P HPO:probinson[2013-04-03] +OMIM:127700 Dyslexia, susceptibility to, 1 HP:0002167 OMIM:127700 TAS P HPO:skoehler[2009-02-17] OMIM:127700 Dyslexia, susceptibility to, 1 HP:0010522 OMIM:127700 TAS P HPO:skoehler[2010-06-18] OMIM:127700 Dyslexia, susceptibility to, 1 HP:0000006 OMIM:127700 TAS I HPO:skoehler[2009-02-17] OMIM:212065 Congenital disorder of glycosylation, type Ia HP:0008209 OMIM:212065 IEA P HPO:skoehler[2009-02-17] @@ -91021,18 +91899,21 @@ OMIM:610678 Combined oxidative phosphorylation deficiency 4 HP:0002126 PMID:171 OMIM:610678 Combined oxidative phosphorylation deficiency 4 HP:0003128 PMID:17160893 TAS P HPO:probinson[2013-04-01] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001298 OMIM:618224 IEA P HPO:skoehler[2019-02-15] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001254 OMIM:618224 IEA P HPO:skoehler[2019-02-15] -OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0003676 OMIM:618224 IEA C HPO:skoehler[2019-02-15] +OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0003676 PMID:10330338 PCS C HPO:skoehler[2019-02-15];HPO:probinson[2023-06-09] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0002376 OMIM:618224 IEA P HPO:skoehler[2019-02-15] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001332 OMIM:618224 IEA P HPO:skoehler[2019-02-15] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001250 OMIM:618224 IEA P HPO:skoehler[2019-02-15] -OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001260 OMIM:618224 IEA P HPO:skoehler[2019-02-15] -OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001251 OMIM:618224 IEA P HPO:skoehler[2019-02-15] +OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0011968 PMID:10330338 PCS 1/2 P HPO:probinson[2023-06-09] +OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001260 PMID:10330338 PCS 1/2 P HPO:skoehler[2019-02-15];HPO:probinson[2023-06-09] +OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0002572 PMID:10330338 PCS 1/2 P HPO:probinson[2023-06-09] +OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001251 PMID:10330338 PCS 1/2 P HPO:skoehler[2019-02-15];HPO:probinson[2023-06-09] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0002240 OMIM:618224 IEA P HPO:skoehler[2019-04-18] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001290 OMIM:618224 IEA P HPO:skoehler[2019-04-18] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0002071 OMIM:618224 IEA P HPO:skoehler[2019-02-15] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0002093 OMIM:618224 IEA P HPO:skoehler[2019-04-18] +OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0003819 PMID:10330338 PCS 2/2 C HPO:probinson[2023-06-09] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0007256 OMIM:618224 IEA P HPO:skoehler[2019-02-15] -OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0000007 OMIM:618224 IEA I HPO:skoehler[2019-04-18] +OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0000007 PMID:10330338 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2023-06-09] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001942 OMIM:618224 IEA P HPO:skoehler[2019-04-18] OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3 HP:0001347 OMIM:618224 IEA P HPO:skoehler[2019-02-15] OMIM:601775 Megaloblastic anemia, folate-responsive HP:0100502 PMID:32276275 PCS 1/1 P HPO:probinson[2021-05-31] @@ -91546,6 +92427,7 @@ OMIM:618218 Baker-Gordon syndrome HP:0003593 PMID:30107533 PCS 11/11 C HPO:s OMIM:618218 Baker-Gordon syndrome HP:0005274 OMIM:618218 IEA P HPO:skoehler[2019-02-15] OMIM:618218 Baker-Gordon syndrome HP:0000639 PMID:30107533 PCS 5/11 P HPO:skoehler[2019-02-15];HPO:probinson[2023-03-13] OMIM:618218 Baker-Gordon syndrome HP:0000319 OMIM:618218 IEA P HPO:skoehler[2019-02-15] +OMIM:618218 Baker-Gordon syndrome HP:0000733 PMID:30107533 PCS 4/11 P HPO:skoehler[2019-02-15];HPO:probinson[2023-03-13] OMIM:618218 Baker-Gordon syndrome HP:0000219 OMIM:618218 IEA P HPO:skoehler[2019-04-18] OMIM:618218 Baker-Gordon syndrome HP:0001760 OMIM:618218 IEA P HPO:skoehler[2019-04-18] OMIM:618218 Baker-Gordon syndrome HP:0002353 OMIM:618218 IEA P HPO:skoehler[2019-02-15] @@ -91700,6 +92582,7 @@ OMIM:215520 Ciliary dyskinesia due to transposition of ciliary microtubules HP: OMIM:604802 Huntington disease-like 3 HP:0002300 OMIM:604802 IEA P HPO:iea[2009-02-17] OMIM:604802 Huntington disease-like 3 HP:0006913 OMIM:604802 IEA P HPO:iea[2009-02-17] OMIM:604802 Huntington disease-like 3 HP:0001332 OMIM:604802 IEA P HPO:iea[2009-02-17] +OMIM:604802 Huntington disease-like 3 HP:0002167 OMIM:604802 TAS P HPO:skoehler[2009-02-17] OMIM:604802 Huntington disease-like 3 HP:0001250 OMIM:604802 IEA P HPO:iea[2009-02-17] OMIM:604802 Huntington disease-like 3 HP:0001371 OMIM:604802 IEA P HPO:iea[2009-02-17] OMIM:604802 Huntington disease-like 3 HP:0002340 OMIM:604802 IEA P HPO:iea[2009-02-17] @@ -91920,11 +92803,11 @@ OMIM:608631 Asperger syndrome, susceptibility to, 2 HP:0003621 OMIM:608631 IEA OMIM:608631 Asperger syndrome, susceptibility to, 2 HP:0000717 OMIM:608631 IEA P HPO:skoehler[2010-06-20] OMIM:608631 Asperger syndrome, susceptibility to, 2 HP:0000728 OMIM:608631 IEA P HPO:iea[2009-02-17] OMIM:608631 Asperger syndrome, susceptibility to, 2 HP:0000723 OMIM:608631 TAS P HPO:skoehler[2013-06-04] +OMIM:608631 Asperger syndrome, susceptibility to, 2 HP:0000733 OMIM:608631 TAS P HPO:skoehler[2009-02-17] OMIM:608631 Asperger syndrome, susceptibility to, 2 HP:0001426 OMIM:608631 IEA I HPO:iea[2009-02-17] OMIM:608631 Asperger syndrome, susceptibility to, 2 HP:0000758 OMIM:608631 IEA P HPO:iea[2009-02-17] OMIM:608631 Asperger syndrome, susceptibility to, 2 HP:0003745 OMIM:608631 IEA I HPO:iea[2009-02-17] OMIM:608631 Asperger syndrome, susceptibility to, 2 HP:0000721 OMIM:608631 IEA P HPO:iea[2009-02-17] -OMIM:608631 Asperger syndrome, susceptibility to, 2 HP:0000732 OMIM:608631 IEA P HPO:iea[2009-02-17] OMIM:618422 Deafness, autosomal recessive 100 NOT HP:0001751 PMID:29590114 TAS P HPO:nvasilevsky[2019-09-11] OMIM:618422 Deafness, autosomal recessive 100 HP:0000407 PMID:29590114 TAS HP:0012828 P HPO:nvasilevsky[2019-09-11] OMIM:618422 Deafness, autosomal recessive 100 HP:0000007 OMIM:618422 IEA I HPO:skoehler[2019-09-07] @@ -92049,6 +92932,7 @@ OMIM:209900 Bardet-Biedl syndrome 1 HP:0003577 PMID:34262361 PCS 1/1 C HPO:p OMIM:209900 Bardet-Biedl syndrome 1 HP:0000662 PMID:34262361 PCS 1/1 P HPO:probinson[2022-06-09] OMIM:209900 Bardet-Biedl syndrome 1 HP:0001156 OMIM:209900 IEA P HPO:iea[2009-02-17] OMIM:209900 Bardet-Biedl syndrome 1 HP:0030631 PMID:31997113 PCS 1/1 P HPO:probinson[2021-10-03] +OMIM:209900 Bardet-Biedl syndrome 1 HP:0002167 OMIM:209900 IEA P HPO:iea[2009-02-17] OMIM:209900 Bardet-Biedl syndrome 1 HP:0001395 OMIM:209900 IEA P HPO:iea[2009-02-17] OMIM:209900 Bardet-Biedl syndrome 1 HP:0000819 PMID:34526762 PCS 7/22 P HPO:iea[2009-02-17];HPO:probinson[2021-10-03] OMIM:209900 Bardet-Biedl syndrome 1 HP:0001829 OMIM:209900 IEA P HPO:iea[2009-02-17] @@ -92346,6 +93230,7 @@ OMIM:610042 Pitt-Hopkins like syndrome 1 HP:0000280 OMIM:610042 IEA HP:0040284 OMIM:610042 Pitt-Hopkins like syndrome 1 HP:0007064 OMIM:610042 TAS P HPO:probinson[2013-03-31] OMIM:610042 Pitt-Hopkins like syndrome 1 HP:0000718 PMID:16571880 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2023-03-04] OMIM:610042 Pitt-Hopkins like syndrome 1 HP:0002539 OMIM:610042 IEA P HPO:skoehler[2015-01-19] +OMIM:610042 Pitt-Hopkins like syndrome 1 HP:0000733 OMIM:610042 IEA P HPO:skoehler[2018-10-08] OMIM:610042 Pitt-Hopkins like syndrome 1 HP:0000735 OMIM:610042 TAS P HPO:probinson[2013-03-31] OMIM:610042 Pitt-Hopkins like syndrome 1 HP:0000752 PMID:16571880 PCS P HPO:probinson[2013-03-31];HPO:probinson[2023-03-04] OMIM:610042 Pitt-Hopkins like syndrome 1 HP:0000256 OMIM:610042 IEA HP:0040284 P HPO:skoehler[2019-04-18] @@ -92527,6 +93412,7 @@ OMIM:272430 Crisponi/cold-induced sweating syndrome 1 HP:0001954 OMIM:272430 TA OMIM:272430 Crisponi/cold-induced sweating syndrome 1 HP:0002987 OMIM:272430 TAS P HPO:skoehler[2013-01-27] OMIM:272430 Crisponi/cold-induced sweating syndrome 1 HP:0000369 OMIM:272430 TAS P HPO:skoehler[2013-01-27] OMIM:272430 Crisponi/cold-induced sweating syndrome 1 HP:0000347 OMIM:272430 TAS P HPO:skoehler[2013-01-27] +OMIM:272430 Crisponi/cold-induced sweating syndrome 1 HP:0001611 OMIM:272430 IEA P HPO:iea[2009-02-17] OMIM:272430 Crisponi/cold-induced sweating syndrome 1 HP:0000445 OMIM:272430 TAS P HPO:skoehler[2013-01-27] OMIM:613239 Thyrotoxic periodic paralysis, susceptibility to, 2 HP:0001265 PMID:20074522 PCS 3/7 P HPO:probinson[2022-06-12] OMIM:613239 Thyrotoxic periodic paralysis, susceptibility to, 2 HP:0003596 PMID:20074522 PCS 1/8 C HPO:probinson[2022-06-12] @@ -92553,6 +93439,7 @@ OMIM:616341 Epileptic encephalopathy, early infantile, 30 HP:0011968 PMID:25839 OMIM:616341 Epileptic encephalopathy, early infantile, 30 HP:0001250 PMID:25839329 PCS HP:0003593 6/6 HP:0031375 P HPO:skoehler[2015-06-22] OMIM:616341 Epileptic encephalopathy, early infantile, 30 HP:0002098 PMID:25839329 PCS 3/6 P HPO:skoehler[2015-06-22] OMIM:616341 Epileptic encephalopathy, early infantile, 30 HP:0001263 PMID:25839329 PCS 4/4 HP:0012829 P HPO:skoehler[2015-06-22] +OMIM:616341 Epileptic encephalopathy, early infantile, 30 HP:0000733 PMID:25839329 PCS 4/4 P HPO:probinson[2018-03-31] OMIM:616341 Epileptic encephalopathy, early infantile, 30 HP:0200134 OMIM:616341 IEA P HPO:skoehler[2015-12-30] OMIM:616341 Epileptic encephalopathy, early infantile, 30 HP:0001522 PMID:25839329 PCS 2/6 C HPO:probinson[2018-03-31] OMIM:616341 Epileptic encephalopathy, early infantile, 30 HP:0000006 PMID:25839329 PCS I HPO:skoehler[2015-12-30] @@ -92577,6 +93464,14 @@ OMIM:619072 Neurodevelopmental disorder with seizures and brain atrophy HP:0007 OMIM:619072 Neurodevelopmental disorder with seizures and brain atrophy HP:0000278 PMID:32103185 PCS 2/8 P HPO:probinson[2021-01-01] OMIM:619072 Neurodevelopmental disorder with seizures and brain atrophy HP:0000369 PMID:32103185 PCS 1/8 P HPO:probinson[2021-01-01] OMIM:619072 Neurodevelopmental disorder with seizures and brain atrophy HP:0009879 PMID:32103185 PCS P HPO:probinson[2021-01-01] +OMIM:620195 Obesity and hypopigmentation HP:0001397 PMID:36536132 PCS HP:0011463 1/1 P HPO:probinson[2023-06-11] +OMIM:620195 Obesity and hypopigmentation HP:0011463 PMID:36536132 PCS 1/1 C HPO:probinson[2023-06-11] +OMIM:620195 Obesity and hypopigmentation HP:0002297 PMID:36536132 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620195 Obesity and hypopigmentation HP:0002591 PMID:36536132 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620195 Obesity and hypopigmentation HP:0001548 PMID:36536132 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620195 Obesity and hypopigmentation HP:0000006 PMID:36536132 PCS I HPO:probinson[2023-06-11] +OMIM:620195 Obesity and hypopigmentation HP:0001513 PMID:36536132 PCS 1/1 P HPO:probinson[2023-06-11] +OMIM:620195 Obesity and hypopigmentation HP:0000842 PMID:36536132 PCS 1/1 P HPO:probinson[2023-06-11] OMIM:117210 Spinocerebellar ataxia 31 HP:0007979 OMIM:117210 TAS HP:0040282 P HPO:probinson[2012-04-01] OMIM:117210 Spinocerebellar ataxia 31 HP:0000639 OMIM:117210 TAS P HPO:probinson[2012-07-17] OMIM:117210 Spinocerebellar ataxia 31 HP:0001272 OMIM:117210 TAS P HPO:probinson[2012-07-17] @@ -92735,29 +93630,30 @@ OMIM:239800 Hypertelorism, microtia, facial clefting syndrome HP:0000347 OMIM:2 OMIM:239800 Hypertelorism, microtia, facial clefting syndrome HP:0003468 OMIM:239800 TAS P HPO:skoehler[2012-10-17] OMIM:239800 Hypertelorism, microtia, facial clefting syndrome HP:0002006 OMIM:239800 IEA P HPO:iea[2009-02-17] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0000483 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] -OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0000750 PMID:28628100 PCS 3/3 P HPO:probinson[2022-08-06] -OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0001344 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0001250 PMID:28628100 PCS 1/4 P HPO:probinson[2022-08-06] -OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0001260 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0002360 PMID:35675825 PCS 2/4 P HPO:probinson[2022-08-08] -OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0001263 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0002020 PMID:28628100 PCS 1/4 P HPO:probinson[2022-08-06] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0003593 PMID:35675825 PCS 4/4 C HPO:probinson[2022-08-08] -OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0002194 PMID:35675825 PCS 2/4 P HPO:probinson[2022-08-08] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0010862 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0001270 PMID:28628100 PCS 2/3 P HPO:probinson[2022-08-06] -OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0011327 PMID:28628100 PCS 1/4 P HPO:probinson[2022-08-06] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0100034 PMID:28628100 PCS 1/3 P HPO:probinson[2022-08-06] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0012471 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0007302 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0000752 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0001249 PMID:35675825;PMID:28628100 PCS 8/8 P HPO:probinson[2022-08-08];HPO:probinson[2022-08-06] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0000750 PMID:28628100 PCS 3/3 P HPO:probinson[2022-08-06] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0001344 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0001260 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0001263 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0002194 PMID:35675825 PCS 2/4 P HPO:probinson[2022-08-08] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0011327 PMID:28628100 PCS 1/4 P HPO:probinson[2022-08-06] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0000506 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0000729 PMID:35675825;PMID:28628100 PCS 5/8 P HPO:probinson[2022-08-08];HPO:probinson[2022-08-06] -OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0012471 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] +OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0000722 PMID:28628100 PCS 1/3 P HPO:probinson[2022-08-06] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0000821 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] -OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0007302 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0002205 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] -OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0000752 PMID:35675825 PCS 1/4 P HPO:probinson[2022-08-08] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0007018 PMID:35675825;PMID:28628100 PCS 3/7 P HPO:probinson[2022-08-08];HPO:probinson[2022-08-06] OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0000006 PMID:28628100 PCS I HPO:probinson[2022-08-06] -OMIM:619927 Intellectual developmental disorder, autosomal dominant 67 HP:0001249 PMID:35675825;PMID:28628100 PCS 8/8 P HPO:probinson[2022-08-08];HPO:probinson[2022-08-06] OMIM:203550 Alopecia-Contractures-Dwarfism mental retardation syndrome HP:0003510 OMIM:203550 IEA P HPO:skoehler[2015-12-30] OMIM:203550 Alopecia-Contractures-Dwarfism mental retardation syndrome HP:0000670 OMIM:203550 IEA P HPO:skoehler[2010-06-20] OMIM:203550 Alopecia-Contractures-Dwarfism mental retardation syndrome HP:0002265 OMIM:203550 TAS P HPO:probinson[2009-02-17] @@ -93401,6 +94297,7 @@ OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic fa OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies HP:0001007 PMID:31512373 PCS 2/4 P HPO:probinson[2020-07-17] OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies HP:0000369 PMID:31512373 PCS 4/4 P HPO:probinson[2020-07-17] OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies HP:0000347 PMID:31512373 PCS 4/4 P HPO:probinson[2020-07-17] +OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies HP:0001611 PMID:31512373 PCS 3/4 P HPO:probinson[2020-07-17] OMIM:610532 Leukodystrophy, hypomyelinating, 5 HP:0003577 PMID:16951682 PCS 10/10 C HPO:probinson[2022-09-21] OMIM:610532 Leukodystrophy, hypomyelinating, 5 HP:0003431 PMID:17683097 PCS 9/10 P HPO:probinson[2012-07-16];HPO:probinson[2022-09-21] OMIM:610532 Leukodystrophy, hypomyelinating, 5 HP:0001250 PMID:16951682 PCS 3/10 P HPO:iea[2009-02-17];HPO:probinson[2022-09-21] @@ -93461,6 +94358,7 @@ DECIPHER:8 Smith-Magenis syndrome HP:0004322 DECIPHER:8 IEA P HPO:skoehler[ DECIPHER:8 Smith-Magenis syndrome HP:0001609 DECIPHER:8 IEA P HPO:skoehler[2013-05-29] DECIPHER:8 Smith-Magenis syndrome HP:0002360 DECIPHER:8 IEA P HPO:skoehler[2013-05-29] DECIPHER:8 Smith-Magenis syndrome HP:0001252 DECIPHER:8 IEA P HPO:skoehler[2013-05-29] +DECIPHER:8 Smith-Magenis syndrome HP:0000733 DECIPHER:8 IEA P HPO:skoehler[2013-05-29] DECIPHER:8 Smith-Magenis syndrome HP:0000752 DECIPHER:8 IEA P HPO:skoehler[2013-05-29] DECIPHER:8 Smith-Magenis syndrome HP:0001249 DECIPHER:8 IEA P HPO:skoehler[2013-05-29] DECIPHER:8 Smith-Magenis syndrome HP:0000742 DECIPHER:8 IEA P HPO:skoehler[2013-05-29] @@ -95315,6 +96213,40 @@ OMIM:256550 Neuraminidase deficiency HP:0000007 OMIM:256550 TAS I HPO:probi OMIM:256550 Neuraminidase deficiency HP:0001638 OMIM:256550 IEA P HPO:iea[2009-02-17] OMIM:256550 Neuraminidase deficiency HP:0012061 OMIM:256550 TAS P HPO:probinson[2012-08-04] OMIM:256550 Neuraminidase deficiency HP:0001336 OMIM:256550 IEA P HPO:iea[2009-02-17] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000582 PMID:32710489 PCS 1/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000541 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000365 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0012745 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0005490 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0012110 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0001508 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000518 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0001548 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000316 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000238 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0007763 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0009765 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000455 PMID:32710489 PCS 1/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000278 PMID:32710489 PCS 2/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0001249 PMID:32710489 PCS 3/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0002553 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000252 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000494 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000431 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000276 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0002079 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0011968 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0001263 PMID:32710489 PCS 3/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000272 PMID:32710489 PCS 1/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000609 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0007099 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000629 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000327 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0002902 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000307 PMID:32710489 PCS 1/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000006 PMID:32710489 PCS I HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000303 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] +OMIM:620157 Intellectual developmental disorder, autosomal dominant 70 HP:0000347 PMID:32710489 PCS 0/3 P HPO:probinson[2023-06-07] OMIM:603956 Cervical cancer HP:0002664 PMID:10471491 PCS P HPO:skoehler[2013-01-10];HPO:probinson[2023-01-25] OMIM:603956 Cervical cancer HP:0030079 PMID:10471491 PCS P HPO:probinson[2023-01-25] OMIM:603956 Cervical cancer HP:0001428 PMID:10471491 PCS I HPO:nvasilevsky[2019-03-21];HPO:lccarmody[2019-03-21];HPO:skoehler[2019-03-21];HPO:probinson[2023-01-25] @@ -95511,6 +96443,7 @@ OMIM:606812 Fumarase deficiency HP:0003355 OMIM:606812 IEA P HPO:skoehler[2 OMIM:606812 Fumarase deficiency HP:0000463 OMIM:606812 IEA P HPO:iea[2009-02-17] OMIM:606812 Fumarase deficiency HP:0002365 OMIM:606812 TAS P HPO:skoehler[2014-04-04] OMIM:606812 Fumarase deficiency HP:0030774 PMID:22069215 PCS 1/1 P HPO:probinson[2023-04-22];HPO:probinson[2023-04-22] +OMIM:606812 Fumarase deficiency HP:0002167 OMIM:606812 IEA P HPO:iea[2009-02-17] OMIM:606812 Fumarase deficiency HP:0000980 OMIM:606812 IEA P HPO:skoehler[2010-06-20] OMIM:606812 Fumarase deficiency HP:0002187 OMIM:606812 IEA P HPO:iea[2009-02-17] OMIM:606812 Fumarase deficiency HP:0001274 PMID:22069215 PCS 2/2 P HPO:skoehler[2012-10-17] @@ -95812,11 +96745,41 @@ OMIM:300919 Mental retardation, X-linked 99 HP:0011220 PMID:24607389 PCS 1/5 OMIM:300919 Mental retardation, X-linked 99 HP:0000718 PMID:24607389 PCS 1/5 P HPO:skoehler[2014-08-24];HPO:probinson[2021-09-28] OMIM:300919 Mental retardation, X-linked 99 HP:0000729 PMID:24607389 PCS 1/5 P HPO:probinson[2021-09-28] OMIM:300919 Mental retardation, X-linked 99 HP:0012450 PMID:24607389 PCS 1/5 P HPO:probinson[2021-09-28] +OMIM:300919 Mental retardation, X-linked 99 HP:0000722 PMID:24607389 PCS 1/5 P HPO:probinson[2021-09-28] OMIM:300919 Mental retardation, X-linked 99 HP:0002779 PMID:24607389 PCS 1/5 P HPO:probinson[2021-09-28] OMIM:300919 Mental retardation, X-linked 99 HP:0001511 PMID:24607389 PCS HP:0011461 1/5 P HPO:probinson[2021-09-28] OMIM:300919 Mental retardation, X-linked 99 HP:0000047 PMID:24607389 PCS 1/5 P HPO:probinson[2021-09-28] OMIM:300919 Mental retardation, X-linked 99 HP:0001249 PMID:24607389 PCS 5/5 P HPO:skoehler[2014-08-24];HPO:probinson[2021-09-28] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000384 PMID:34313816 PCS 2/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0002783 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0001250 PMID:34313816 PCS 2/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0001252 PMID:34313816 PCS 3/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0003593 PMID:34313816 PCS 3/3 C HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0002061 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0012444 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000819 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0001508 PMID:34313816 PCS 3/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000938 PMID:34313816 PCS 1/2 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0001822 PMID:34313816 PCS 2/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0001847 PMID:34313816 PCS 3/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0030084 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000218 PMID:34313816 PCS 2/3 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0001249 PMID:34313816 PCS 2/2 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000252 PMID:34313816 PCS 3/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0001684 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0011968 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000490 PMID:34313816 PCS 2/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0001263 PMID:34313816 PCS 3/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0011304 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0001518 PMID:34313816 PCS 3/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000448 PMID:34313816 PCS 3/3 P HPO:probinson[2023-06-11] OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000007 PMID:26633546 PCS I HPO:probinson[2023-04-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0430028 PMID:34313816 PCS 2/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0200134 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000768 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000400 PMID:34313816 PCS 3/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000567 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] +OMIM:620194 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies HP:0000347 PMID:34313816 PCS 1/3 P HPO:probinson[2023-06-11] OMIM:619701 Yoon-Bellen neurodevelopmental syndrome HP:0002069 PMID:34800363 PCS 5/9 P HPO:probinson[2022-03-19];HPO:probinson[2022-03-19] OMIM:619701 Yoon-Bellen neurodevelopmental syndrome HP:0030799 PMID:34800363 PCS 1/9 P HPO:probinson[2022-03-19] OMIM:619701 Yoon-Bellen neurodevelopmental syndrome HP:0003577 PMID:34800363 PCS 1/9 C HPO:probinson[2022-03-19];HPO:probinson[2022-03-19] @@ -96334,6 +97297,7 @@ OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures HP:0000486 OMIM:617710 IEA P HPO:skoehler[2018-10-08] OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures HP:0000343 PMID:28236339 PCS 2/2 P HPO:probinson[2022-04-19] OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures HP:0002188 PMID:28650581 PCS 1/1 P HPO:probinson[2022-04-19];HPO:probinson[2022-04-19] +OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures HP:0002167 OMIM:617710 IEA P HPO:skoehler[2018-10-08] OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures HP:0001332 OMIM:617710 IEA P HPO:skoehler[2018-10-08] OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures HP:0001310 PMID:28650581 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2022-04-19] OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures HP:0001250 OMIM:617710 IEA HP:0040284 P HPO:skoehler[2018-10-08] @@ -96610,6 +97574,7 @@ OMIM:300676 Mental retardation, X-linked, syndromic 14 HP:0001833 PMID:17704778 OMIM:300676 Mental retardation, X-linked, syndromic 14 HP:0000768 PMID:17704778 PCS 1/11 P HPO:iea[2009-02-17];HPO:probinson[2021-09-26] OMIM:300676 Mental retardation, X-linked, syndromic 14 HP:0001533 PMID:17704778 PCS 7/11 P HPO:probinson[2021-09-26] OMIM:300676 Mental retardation, X-linked, syndromic 14 HP:0000303 PMID:17704778 PCS 4/11 P HPO:iea[2009-02-17];HPO:probinson[2021-09-26] +OMIM:300676 Mental retardation, X-linked, syndromic 14 HP:0001611 PMID:17704778 PCS 4/11 P HPO:iea[2009-02-17];HPO:probinson[2021-09-26] OMIM:200110 Ablepharon-Macrostomia syndrome HP:0002223 OMIM:200110 PCS P HPO:iea[2012-02-21] OMIM:200110 Ablepharon-Macrostomia syndrome HP:0000561 PMID:26119818 PCS 2/10 P HPO:iea[2012-02-21];HPO:probinson[2022-05-07] OMIM:200110 Ablepharon-Macrostomia syndrome HP:0001770 OMIM:200110 TAS HP:0040283 P HPO:skoehler[2017-07-13] @@ -97199,6 +98164,7 @@ OMIM:194050 Williams-Beuren syndrome HP:0001347 PMID:20089974 PCS HP:0040282 OMIM:194050 Williams-Beuren syndrome HP:0000272 ISBN-13:978-0721606156 PCS HP:0040283 P HPO:iea[2010-04-29] OMIM:194050 Williams-Beuren syndrome HP:0005280 ISBN-13:978-0721606156 PCS HP:0040282 P HPO:iea[2009-02-17] OMIM:194050 Williams-Beuren syndrome HP:0100000 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams PCS 50% P HPO:iea[2010-04-29] +OMIM:194050 Williams-Beuren syndrome HP:0000708 PMID:20089974 PCS HP:0040282 P HPO:iea[2010-04-29] OMIM:194050 Williams-Beuren syndrome HP:0008661 ISBN-13:978-0721606156 PCS HP:0040282 P HPO:iea[2009-02-17] OMIM:194050 Williams-Beuren syndrome HP:0002608 PMID:20089974 PCS HP:0040283 P HPO:iea[2010-04-29] OMIM:194050 Williams-Beuren syndrome HP:0000668 PMID:20089974 PCS HP:0040282 P HPO:iea[2009-02-17] @@ -97349,6 +98315,7 @@ OMIM:618557 Epileptic encephalopathy, early infantile, 78 HP:0001290 PMID:29961 OMIM:618557 Epileptic encephalopathy, early infantile, 78 HP:0100021 PMID:29961870 PCS P HPO:probinson[2020-06-28] OMIM:618557 Epileptic encephalopathy, early infantile, 78 HP:0011344 PMID:29422393 PCS HP:0003593 1/1 P HPO:probinson[2020-06-28];HPO:probinson[2020-06-28] OMIM:618557 Epileptic encephalopathy, early infantile, 78 HP:0100704 PMID:29961870 PCS P HPO:probinson[2020-06-28] +OMIM:618557 Epileptic encephalopathy, early infantile, 78 HP:0000817 PMID:29422393 PCS HP:0003593 1/1 P HPO:probinson[2020-06-28];HPO:probinson[2020-06-28] OMIM:618557 Epileptic encephalopathy, early infantile, 78 HP:0000729 PMID:31032849 PCS 2/4 P HPO:probinson[2020-06-28] OMIM:618557 Epileptic encephalopathy, early infantile, 78 HP:0001319 PMID:29422393 PCS HP:0003623 1/1 P HPO:probinson[2020-06-28];HPO:probinson[2020-06-28] OMIM:618557 Epileptic encephalopathy, early infantile, 78 HP:0003429 PMID:29961870 PCS P HPO:probinson[2020-06-28] @@ -97505,6 +98472,20 @@ OMIM:615715 Bone marrow failure syndrome 2 HP:0000007 PMID:24507776 PCS I H OMIM:615715 Bone marrow failure syndrome 2 HP:0001319 PMID:24507776 PCS 1/3 P HPO:skoehler[2014-04-13];HPO:probinson[2023-06-05] OMIM:615715 Bone marrow failure syndrome 2 HP:0005528 PMID:24507776 PCS 3/3 P HPO:skoehler[2014-04-13];HPO:probinson[2023-06-05] OMIM:615715 Bone marrow failure syndrome 2 HP:0001873 PMID:24507776 PCS 3/3 P HPO:skoehler[2014-04-13];HPO:probinson[2023-06-05] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0003477 PMID:35986737 PCS 11/21 P HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0002015 PMID:35986737 PCS 9/31 P HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0003621 PMID:35986737 PCS C HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0002395 PMID:35986737 PCS 24/31 P HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0002066 PMID:35986737 PCS 28/31 P HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0001260 PMID:35986737 PCS 9/31 P HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0002495 PMID:35986737 PCS 24/31 P HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0003581 PMID:35986737 PCS C HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0001152 PMID:35986737 PCS 16/31 P HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0002061 PMID:35986737 PCS 24/31 P HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0010871 PMID:35986737 PCS 2/31 P HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0002080 PMID:35986737 PCS 18/31 P HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0011463 PMID:35986737 PCS C HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0000648 PMID:35986737 PCS 9/17 P HPO:probinson[2023-06-11] OMIM:620221 Spastic paraplegia 79A, autosomal dominant HP:0000006 PMID:35986737 PCS I HPO:probinson[2023-04-16] OMIM:177650 Exfoliation syndrome HP:0001132 OMIM:177650 TAS P HPO:skoehler[2013-07-17] OMIM:177650 Exfoliation syndrome HP:0009916 OMIM:177650 TAS P HPO:skoehler[2014-01-28] @@ -97708,7 +98689,9 @@ OMIM:301030 Van Esch-O'Driscoll syndrome HP:0010882 PMID:31006512 PCS 1/9 P OMIM:301030 Van Esch-O'Driscoll syndrome HP:0100962 PMID:31006512 PCS 1/9 P HPO:skoehler[2019-09-07];HPO:probinson[2022-08-28] OMIM:301030 Van Esch-O'Driscoll syndrome HP:0002719 PMID:31006512 PCS 1/9 P HPO:skoehler[2019-09-07];HPO:probinson[2022-08-28] OMIM:301030 Van Esch-O'Driscoll syndrome HP:0001629 PMID:31006512 PCS 1/9 P HPO:skoehler[2019-09-07];HPO:probinson[2022-08-28] +OMIM:301030 Van Esch-O'Driscoll syndrome HP:0000817 PMID:31006512 PCS 1/9 P HPO:probinson[2022-08-28] OMIM:301030 Van Esch-O'Driscoll syndrome HP:0008551 PMID:31006512 PCS 1/9 P HPO:probinson[2022-08-28] +OMIM:301030 Van Esch-O'Driscoll syndrome HP:0000733 PMID:31006512 PCS 1/9 P HPO:probinson[2022-08-28] OMIM:301030 Van Esch-O'Driscoll syndrome HP:0002714 PMID:31006512 PCS 1/9 P HPO:probinson[2022-08-28] OMIM:301030 Van Esch-O'Driscoll syndrome HP:0000411 PMID:31006512 PCS 1/9 P HPO:probinson[2022-08-28] OMIM:301030 Van Esch-O'Driscoll syndrome HP:0000278 PMID:31006512 PCS 2/9 P HPO:probinson[2022-08-28] @@ -97739,6 +98722,7 @@ OMIM:301030 Van Esch-O'Driscoll syndrome HP:0001257 PMID:31006512 PCS 1/9 P OMIM:301030 Van Esch-O'Driscoll syndrome HP:0007018 PMID:31006512 PCS 1/9 P HPO:probinson[2022-08-28] OMIM:301030 Van Esch-O'Driscoll syndrome HP:0000586 PMID:31006512 PCS 1/9 P HPO:probinson[2022-08-28] OMIM:301030 Van Esch-O'Driscoll syndrome HP:0000960 PMID:31006512 PCS 2/9 P HPO:probinson[2022-08-28] +OMIM:136630 Intellectual developmental disorder, autosomal dominant, FRA12A type HP:0000708 PMID:17236128 PCS 1/8 P HPO:probinson[2022-06-27] OMIM:136630 Intellectual developmental disorder, autosomal dominant, FRA12A type HP:0002783 PMID:17236128 PCS 1/8 P HPO:probinson[2022-06-27] OMIM:136630 Intellectual developmental disorder, autosomal dominant, FRA12A type HP:0001250 PMID:17236128 PCS 1/8 P HPO:skoehler[2017-07-13];HPO:probinson[2022-06-27] OMIM:136630 Intellectual developmental disorder, autosomal dominant, FRA12A type HP:0001263 PMID:17236128 PCS 1/8 P HPO:probinson[2022-06-27] @@ -97796,6 +98780,7 @@ OMIM:313420 Spondylometaphyseal dysplasia, X-linked HP:0000486 OMIM:313420 IEA OMIM:313420 Spondylometaphyseal dysplasia, X-linked HP:0001256 OMIM:313420 IEA P HPO:iea[2009-02-17] OMIM:313420 Spondylometaphyseal dysplasia, X-linked HP:0001597 OMIM:313420 IEA P HPO:iea[2009-02-17] OMIM:313420 Spondylometaphyseal dysplasia, X-linked HP:0000463 OMIM:313420 IEA P HPO:iea[2009-02-17] +OMIM:313420 Spondylometaphyseal dysplasia, X-linked HP:0002167 OMIM:313420 IEA P HPO:iea[2009-02-17] OMIM:313420 Spondylometaphyseal dysplasia, X-linked HP:0003273 OMIM:313420 TAS P HPO:probinson[2013-04-01] OMIM:313420 Spondylometaphyseal dysplasia, X-linked HP:0000280 OMIM:313420 IEA P HPO:iea[2009-02-17] OMIM:313420 Spondylometaphyseal dysplasia, X-linked HP:0009381 OMIM:313420 IEA P HPO:skoehler[2018-10-08] @@ -97822,12 +98807,14 @@ OMIM:172700 Pick disease of brain HP:0010529 OMIM:172700 IEA P HPO:skoehler OMIM:172700 Pick disease of brain HP:0002463 OMIM:172700 IEA P HPO:iea[2009-02-17] OMIM:172700 Pick disease of brain HP:0002145 OMIM:172700 IEA P HPO:iea[2009-02-17] OMIM:172700 Pick disease of brain HP:0030213 OMIM:172700 TAS P HPO:skoehler[2015-01-04] +OMIM:172700 Pick disease of brain HP:0030223 OMIM:172700 TAS P HPO:skoehler[2015-01-04] OMIM:172700 Pick disease of brain HP:0002591 OMIM:172700 IEA P HPO:iea[2009-02-17] OMIM:172700 Pick disease of brain HP:0002171 OMIM:172700 IEA P HPO:skoehler[2010-06-20] OMIM:172700 Pick disease of brain HP:0000737 OMIM:172700 IEA P HPO:iea[2009-02-17] OMIM:172700 Pick disease of brain HP:0000748 OMIM:172700 IEA P HPO:iea[2009-02-17] OMIM:172700 Pick disease of brain HP:0000734 OMIM:172700 IEA P HPO:iea[2009-02-17] OMIM:172700 Pick disease of brain HP:0000745 OMIM:172700 IEA P HPO:iea[2009-02-17] +OMIM:172700 Pick disease of brain HP:0000733 OMIM:172700 IEA P HPO:iea[2009-02-17] OMIM:172700 Pick disease of brain HP:0002529 OMIM:172700 IEA P HPO:iea[2009-02-17] OMIM:172700 Pick disease of brain HP:0000741 OMIM:172700 IEA P HPO:iea[2009-02-17] OMIM:172700 Pick disease of brain HP:0003745 OMIM:172700 IEA I HPO:iea[2009-02-17] @@ -98411,6 +99398,7 @@ OMIM:618027 Coffin-Siris syndrome 7 HP:0000691 PMID:29429572 PCS 2/7 P HPO:s OMIM:618027 Coffin-Siris syndrome 7 HP:0001263 PMID:29429572 PCS 8/8 P HPO:skoehler[2019-02-15];HPO:probinson[2022-09-28] OMIM:618027 Coffin-Siris syndrome 7 HP:0000767 PMID:29429572 PCS 2/8 P HPO:probinson[2022-09-28] OMIM:618027 Coffin-Siris syndrome 7 HP:0000403 PMID:29429572 PCS 4/6 P HPO:skoehler[2019-02-15];HPO:probinson[2022-09-28] +OMIM:618027 Coffin-Siris syndrome 7 HP:0000722 PMID:29429572 PCS 1/8 P HPO:skoehler[2019-02-15];HPO:probinson[2022-09-28] OMIM:618027 Coffin-Siris syndrome 7 HP:0004209 PMID:29429572 PCS 3/8 P HPO:probinson[2022-09-28] OMIM:618027 Coffin-Siris syndrome 7 HP:0000400 PMID:29429572 PCS 3/8 P HPO:skoehler[2019-02-15];HPO:probinson[2022-09-28] OMIM:618027 Coffin-Siris syndrome 7 HP:0000444 PMID:29429572 PCS 1/8 P HPO:probinson[2022-09-28] @@ -98427,6 +99415,7 @@ OMIM:618027 Coffin-Siris syndrome 7 HP:0001195 PMID:29429572 PCS 1/8 P HPO:p OMIM:618027 Coffin-Siris syndrome 7 HP:0001270 PMID:29429572 PCS 5/8 P HPO:probinson[2022-09-28] OMIM:618027 Coffin-Siris syndrome 7 HP:0025162 PMID:29429572 PCS 2/8 P HPO:probinson[2022-09-28] OMIM:618027 Coffin-Siris syndrome 7 HP:0001629 PMID:29429572 PCS 1/8 P HPO:probinson[2022-09-28] +OMIM:618027 Coffin-Siris syndrome 7 HP:0000733 PMID:29429572 PCS 2/8 P HPO:probinson[2022-09-28] OMIM:618027 Coffin-Siris syndrome 7 HP:0000219 PMID:29429572 PCS 4/8 P HPO:skoehler[2019-02-15];HPO:probinson[2022-09-28] OMIM:618027 Coffin-Siris syndrome 7 HP:0002714 PMID:29429572 PCS 1/8 P HPO:probinson[2022-09-28] OMIM:618027 Coffin-Siris syndrome 7 HP:0000179 PMID:29429572 PCS 4/8 P HPO:probinson[2022-09-28] @@ -98665,6 +99654,7 @@ OMIM:615501 Molybdenum cofactor deficiency, complementation group C HP:0001290 OMIM:615501 Molybdenum cofactor deficiency, complementation group C HP:0011344 PMID:11095995 PCS 3/3 P HPO:probinson[2022-04-11] OMIM:615501 Molybdenum cofactor deficiency, complementation group C HP:0012110 PMID:22040219 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2022-04-11] OMIM:615501 Molybdenum cofactor deficiency, complementation group C HP:0500152 PMID:22040219 PCS 1/1 P HPO:probinson[2022-04-11] +OMIM:615501 Molybdenum cofactor deficiency, complementation group C HP:0000817 PMID:22040219 PCS 1/1 P HPO:skoehler[2015-08-30];HPO:probinson[2022-04-11] OMIM:615501 Molybdenum cofactor deficiency, complementation group C HP:0002509 PMID:22040219 PCS 1/1 P HPO:probinson[2022-04-11] OMIM:615501 Molybdenum cofactor deficiency, complementation group C HP:0500181 PMID:22040219 PCS 1/1 P HPO:probinson[2022-04-11] OMIM:615501 Molybdenum cofactor deficiency, complementation group C HP:0000007 PMID:11095995 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2022-04-11] @@ -99200,6 +100190,7 @@ OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessiv OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive HP:0002747 PMID:32776697 PCS 2/7 P HPO:probinson[2021-10-16] OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive HP:0002987 PMID:32776697 PCS 1/7 P HPO:probinson[2021-10-16] OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive HP:0001612 PMID:32776697 PCS 2/7 P HPO:probinson[2021-10-16] +OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive HP:0001611 PMID:32776697 PCS 2/7 P HPO:probinson[2021-10-16] OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive HP:0003557 PMID:32776697 PCS 1/7 P HPO:probinson[2021-10-16] OMIM:222600 Diastrophic dysplasia HP:0003577 PMID:34064542 PCS 12/12 C HPO:probinson[2022-09-06] OMIM:222600 Diastrophic dysplasia HP:0008608 OMIM:222600 IEA P HPO:iea[2009-02-17] @@ -99259,6 +100250,7 @@ OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000995 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000478 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0003763 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] +OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0001067 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000252 PMID:34211179 PCS 5/21 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0003764 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0001344 PMID:34211179 PCS 4/29 P HPO:probinson[2021-10-05] @@ -99267,6 +100259,7 @@ OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000490 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0002033 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0100021 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] +OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0010674 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0031951 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0100022 PMID:34211179 PCS 2/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0100540 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] @@ -99297,6 +100290,7 @@ OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000739 PMID:34211179 PCS 3/20 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000337 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0020221 PMID:34211179 PCS 2/29 P HPO:probinson[2021-10-05] +OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000733 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000612 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0008751 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0002119 PMID:34211179 PCS 2/29 P HPO:probinson[2021-10-05] @@ -99371,6 +100365,7 @@ OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000729 PMID:34211179 PCS 6/21 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0002904 PMID:34211179 PCS 2/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000723 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] +OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000722 PMID:34211179 PCS 3/22 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0001659 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000048 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000289 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] @@ -99381,11 +100376,13 @@ OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000567 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0410018 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0002169 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] +OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0002167 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0010862 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0012498 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0001508 PMID:34211179 PCS 4/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0002719 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0001629 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] +OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000817 PMID:34211179 PCS 2/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0009884 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000414 PMID:34211179 PCS 2/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0001626 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] @@ -99400,6 +100397,7 @@ OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000152 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000790 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0032988 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] +OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000708 PMID:34211179 PCS 4/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000707 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0001999 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0001635 PMID:34211179 PCS 1/29 P HPO:probinson[2021-10-05] @@ -99494,6 +100492,7 @@ OMIM:301032 Basilicata-Akhtar syndrome HP:0002191 PMID:30224647 PCS 10/16 P OMIM:301032 Basilicata-Akhtar syndrome HP:0001181 PMID:30224647 PCS 1/16 P HPO:probinson[2020-09-03] OMIM:301032 Basilicata-Akhtar syndrome HP:0100022 PMID:30224647 PCS 2/15 P HPO:probinson[2020-09-03] OMIM:301032 Basilicata-Akhtar syndrome HP:0012385 PMID:30224647 PCS 2/16 P HPO:probinson[2020-09-03] +OMIM:301032 Basilicata-Akhtar syndrome HP:0000708 PMID:30224647 PCS 9/14 P HPO:probinson[2020-09-03] OMIM:301032 Basilicata-Akhtar syndrome HP:0000826 PMID:30224647 PCS 1/11 P HPO:probinson[2020-09-03] OMIM:301032 Basilicata-Akhtar syndrome HP:0000506 PMID:30224647 PCS 11/16 P HPO:probinson[2020-09-03] OMIM:301032 Basilicata-Akhtar syndrome HP:0001998 PMID:30224647 PCS HP:0003623 14/16 P HPO:probinson[2022-08-27];HPO:probinson[2022-08-27] @@ -99845,7 +100844,7 @@ OMIM:212066 Congenital disorder of glycosylation, type IIa HP:0001508 PMID:1122 OMIM:212066 Congenital disorder of glycosylation, type IIa HP:0001629 PMID:11228641 PCS 2/3 P HPO:iea[2009-02-17];HPO:probinson[2023-04-09] OMIM:212066 Congenital disorder of glycosylation, type IIa HP:0000938 OMIM:212066 IEA P HPO:iea[2009-02-17] OMIM:212066 Congenital disorder of glycosylation, type IIa HP:0001547 OMIM:212066 IEA P HPO:iea[2009-02-17] -OMIM:212066 Congenital disorder of glycosylation, type IIa HP:0000733 PMID:11228641 PCS 1/3 P HPO:probinson[2023-04-09] +OMIM:212066 Congenital disorder of glycosylation, type IIa HP:0000733 OMIM:212066;PMID:11228641 PCS 11/13 P HPO:probinson[2023-04-09];HPO:iea[2009-02-17] OMIM:212066 Congenital disorder of glycosylation, type IIa HP:0007466 OMIM:212066 IEA P HPO:iea[2009-02-17] OMIM:212066 Congenital disorder of glycosylation, type IIa HP:0002317 OMIM:212066 TAS P HPO:skoehler[2012-10-17] OMIM:212066 Congenital disorder of glycosylation, type IIa HP:0009765 OMIM:212066 TAS P HPO:skoehler[2012-10-17] @@ -100002,6 +101001,28 @@ OMIM:607688 Parkinson disease 11 HP:0002063 PMID:18358451 PCS P HPO:probins OMIM:607688 Parkinson disease 11 HP:0002172 PMID:18358451 PCS P HPO:probinson[2013-03-04] OMIM:607688 Parkinson disease 11 HP:0002548 PMID:18358451 PCS P HPO:probinson[2013-03-04] OMIM:607688 Parkinson disease 11 HP:0000006 PMID:18358451 PCS I HPO:probinson[2013-01-09] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0002751 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000252 PMID:34413497 PCS 6/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0001256 PMID:34413497 PCS 5/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000486 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0002750 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0001156 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0002373 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0002099 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0001010 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0010864 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000639 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000308 PMID:34413497 PCS 2/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000407 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000767 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000007 PMID:34413497 PCS I HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0002967 PMID:34413497 PCS 2/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0004209 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000218 PMID:34413497 PCS 2/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000774 PMID:34413497 PCS 2/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000278 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0001138 PMID:34413497 PCS 2/6 P HPO:probinson[2023-06-12] +OMIM:620237 Intellectual developmental disorder, autosomal recessive 78 HP:0000577 PMID:34413497 PCS 1/6 P HPO:probinson[2023-06-12] OMIM:121400 Cornea plana 1 HP:0000007 OMIM:121400 TAS I HPO:skoehler[2012-11-18] OMIM:121400 Cornea plana 1 HP:0007720 OMIM:121400 IEA P HPO:iea[2009-02-17] OMIM:121400 Cornea plana 1 HP:0000006 OMIM:121400 TAS I HPO:skoehler[2012-11-16] @@ -100320,6 +101341,7 @@ OMIM:617114 Myopathy, myofibrillar, 7 HP:0001761 PMID:27485408 PCS 1/1 P HPO OMIM:617114 Myopathy, myofibrillar, 7 HP:0003044 PMID:27485408 PCS 1/1 P HPO:probinson[2021-03-13] OMIM:617114 Myopathy, myofibrillar, 7 HP:0001263 PMID:27484770 PCS 1/2 P HPO:probinson[2021-03-13] OMIM:617114 Myopathy, myofibrillar, 7 HP:0010677 PMID:27485408 PCS 1/1 P HPO:probinson[2021-03-13] +OMIM:617114 Myopathy, myofibrillar, 7 HP:0000708 PMID:27484770 PCS 1/2 P HPO:probinson[2021-03-13] OMIM:617114 Myopathy, myofibrillar, 7 HP:0002607 PMID:27485408 PCS 1/1 P HPO:probinson[2021-03-13] OMIM:617114 Myopathy, myofibrillar, 7 HP:0002828 PMID:27484770 PCS 2/2 P HPO:probinson[2021-03-13] OMIM:617114 Myopathy, myofibrillar, 7 HP:0000007 PMID:27485408 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2021-03-13] @@ -100963,6 +101985,7 @@ OMIM:615918 Combined oxidative phosphorylation deficiency 21 HP:0002151 PMID:24 OMIM:615918 Combined oxidative phosphorylation deficiency 21 HP:0002151 PMID:33153448 PCS 1/1 P HPO:probinson[2022-03-30] OMIM:615918 Combined oxidative phosphorylation deficiency 21 HP:0003593 PMID:33153448 IEA 1/1 C HPO:probinson[2022-03-30] OMIM:615918 Combined oxidative phosphorylation deficiency 21 HP:0011813 PMID:24827421 IEA 1/1 P HPO:probinson[2022-03-30] +OMIM:615918 Combined oxidative phosphorylation deficiency 21 HP:0000817 PMID:33153448 PCS 1/1 P HPO:probinson[2022-03-30] OMIM:615918 Combined oxidative phosphorylation deficiency 21 HP:0002509 PMID:24827421 PCS HP:0003623 2/2 P HPO:skoehler[2014-08-24];HPO:probinson[2022-03-30] OMIM:615918 Combined oxidative phosphorylation deficiency 21 HP:0002509 PMID:33153448 PCS 1/1 P HPO:probinson[2022-03-30] OMIM:615918 Combined oxidative phosphorylation deficiency 21 HP:0000007 PMID:24827421 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2022-03-30] @@ -101049,6 +102072,7 @@ OMIM:300884 Epileptic encephalopathy, early infantile, 36 HP:0000280 PMID:23033 OMIM:300884 Epileptic encephalopathy, early infantile, 36 HP:0012469 PMID:23934111;PMID:24781210 PCS 3/3 P HPO:probinson[2022-05-30] OMIM:300884 Epileptic encephalopathy, early infantile, 36 HP:0010864 PMID:24781210 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2022-05-30] OMIM:300884 Epileptic encephalopathy, early infantile, 36 HP:0002719 PMID:22492991 PCS 1/1 P HPO:skoehler[2012-11-25];HPO:probinson[2022-05-30] +OMIM:300884 Epileptic encephalopathy, early infantile, 36 HP:0000817 OMIM:300884 TAS P HPO:skoehler[2017-07-13] OMIM:300884 Epileptic encephalopathy, early infantile, 36 HP:0000316 PMID:23033978 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2022-05-30] OMIM:300884 Epileptic encephalopathy, early infantile, 36 HP:0000238 PMID:23033978 PCS 1/1 P HPO:skoehler[2013-11-18];HPO:probinson[2022-05-30] OMIM:300884 Epileptic encephalopathy, early infantile, 36 HP:0000256 PMID:23033978 PCS 1/1 P HPO:probinson[2022-05-30] @@ -101110,6 +102134,7 @@ OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facie OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies HP:0000646 PMID:35227461 PCS 1/4 P HPO:probinson[2022-09-04] OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies HP:0001845 PMID:35227461 PCS 1/4 P HPO:probinson[2022-09-04] OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies HP:0000007 PMID:35227461 PCS I HPO:probinson[2022-09-04] +OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies HP:0000722 PMID:35227461 PCS 1/4 P HPO:probinson[2022-09-04] OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies HP:0000218 PMID:35227461 PCS 3/4 P HPO:probinson[2022-09-04];HPO:probinson[2022-09-04] OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies HP:0007018 PMID:35227461 PCS 2/4 P HPO:probinson[2022-09-04] OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies HP:0001488 PMID:35227461 PCS 1/4 P HPO:probinson[2022-09-04];HPO:probinson[2022-09-04] @@ -101475,6 +102500,7 @@ OMIM:618347 Galloway-Mowat syndrome 6 HP:0003593 PMID:28617965 PCS 2/2 C HPO OMIM:618347 Galloway-Mowat syndrome 6 HP:0003073 OMIM:618347 IEA HP:0040284 P HPO:skoehler[2019-04-18] OMIM:618347 Galloway-Mowat syndrome 6 HP:0001270 PMID:29597095 PCS 1/1 P HPO:probinson[2022-03-11] OMIM:618347 Galloway-Mowat syndrome 6 HP:0011461 PMID:29597095 PCS 1/1 C HPO:probinson[2022-03-11] +OMIM:618347 Galloway-Mowat syndrome 6 HP:0000733 PMID:28617965 PCS 2/2 P HPO:probinson[2022-03-11] OMIM:618347 Galloway-Mowat syndrome 6 HP:0002714 PMID:28617965;PMID:29597095 PCS 2/3 P HPO:probinson[2022-03-11];HPO:skoehler[2019-04-18];HPO:probinson[2022-03-11] OMIM:618347 Galloway-Mowat syndrome 6 HP:0000218 OMIM:618347 IEA P HPO:skoehler[2019-04-18] OMIM:618347 Galloway-Mowat syndrome 6 HP:0001249 PMID:29597095;PMID:30079490 PCS 5/5 P HPO:probinson[2022-03-11] @@ -101624,6 +102650,7 @@ OMIM:612642 Deafness, autosomal dominant 59 HP:0000407 PMID:19030898 PCS HP:000 OMIM:612642 Deafness, autosomal dominant 59 HP:0000006 PMID:19030898 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2019-01-16] OMIM:614233 Hyperpigmentation, familial progressive, 1 HP:0000953 PMID:16709486 PCS P HPO:probinson[2017-06-23] OMIM:614233 Hyperpigmentation, familial progressive, 1 HP:0000006 PMID:16709486 PCS I HPO:probinson[2017-06-23] +DECIPHER:51 2q33.1 deletion syndrome HP:0000708 DECIPHER:51 IEA P HPO:skoehler[2013-05-29] DECIPHER:51 2q33.1 deletion syndrome HP:0000175 DECIPHER:51 IEA P HPO:skoehler[2013-05-29] DECIPHER:51 2q33.1 deletion syndrome HP:0000023 DECIPHER:51 IEA P HPO:skoehler[2013-05-29] DECIPHER:51 2q33.1 deletion syndrome HP:0004322 DECIPHER:51 IEA P HPO:skoehler[2013-05-29] @@ -101937,6 +102964,7 @@ DECIPHER:45 Xq28 (MECP2) duplication HP:0000716 http://www.ncbi.nlm.nih.gov/boo DECIPHER:45 Xq28 (MECP2) duplication HP:0000717 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup IEA male P HPO:iea[2010-09-15] DECIPHER:45 Xq28 (MECP2) duplication HP:0000739 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup IEA male P HPO:iea[2010-09-15] DECIPHER:45 Xq28 (MECP2) duplication HP:0008872 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup IEA male P HPO:iea[2010-09-15] +DECIPHER:45 Xq28 (MECP2) duplication HP:0000733 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup IEA male P HPO:iea[2010-09-15] DECIPHER:45 Xq28 (MECP2) duplication HP:0002019 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mecp2-dup IEA male P HPO:iea[2010-09-15] DECIPHER:45 Xq28 (MECP2) duplication HP:0000252 PMID:17088400 PCS male P HPO:iea[2010-09-15] DECIPHER:45 Xq28 (MECP2) duplication HP:0002015 PMID:17088400 PCS male P HPO:iea[2010-09-15] @@ -101979,25 +103007,33 @@ OMIM:600252 Lowry-Maclean syndrome HP:0001511 OMIM:600252 IEA P HPO:iea[200 OMIM:600252 Lowry-Maclean syndrome HP:0000501 OMIM:600252 IEA P HPO:iea[2009-02-17] OMIM:600252 Lowry-Maclean syndrome HP:0001249 OMIM:600252 IEA P HPO:iea[2009-02-17] OMIM:600252 Lowry-Maclean syndrome HP:0000006 OMIM:600252 TAS I HPO:nvasilevsky[2019-03-21];HPO:lccarmody[2019-03-21];HPO:skoehler[2019-03-21] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0002059 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0003577 OMIM:616430 TAS C HPO:skoehler[2015-12-30] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000343 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000431 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0004322 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000463 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0011968 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0001272 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0003196 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0001252 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0001263 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0001290 OMIM:616430 TAS P HPO:skoehler[2017-07-13] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0005280 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000316 OMIM:616430 TAS HP:0040283 P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000007 OMIM:616430 TAS I HPO:skoehler[2015-12-30] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0002617 OMIM:616430 IEA P HPO:skoehler[2018-10-08] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000824 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000768 OMIM:616430 TAS P HPO:skoehler[2015-07-05] -OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000369 OMIM:616430 TAS P HPO:skoehler[2015-07-05] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0003577 PMID:25754315 PCS 2/2 C HPO:skoehler[2015-12-30];HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000343 PMID:25754315 PCS 2/2 P HPO:skoehler[2015-07-05] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0004322 PMID:25754315 PCS 2/2 P HPO:skoehler[2015-07-05];HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000463 PMID:25754315 PCS 2/2 P HPO:skoehler[2015-07-05] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0001272 PMID:25754315 PCS 2/2 P HPO:skoehler[2015-07-05];HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0003196 PMID:25754315 PCS 2/2 P HPO:skoehler[2015-07-05] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0001290 PMID:25754315 PCS 2/2 P HPO:skoehler[2017-07-13] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0011951 PMID:25754315 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0012110 PMID:25754315 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0001508 PMID:25754315 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000319 PMID:25754315 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0011220 PMID:25754315 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0012450 PMID:25754315 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000316 PMID:25754315 PCS 1/2 P HPO:skoehler[2015-07-05] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0002119 PMID:25754315 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0002059 PMID:25754315 PCS 1/2 P HPO:skoehler[2015-07-05] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000431 PMID:25754315 PCS 1/2 P HPO:skoehler[2015-07-05] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0011968 PMID:25754315 PCS 2/2 P HPO:skoehler[2015-07-05];HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0001263 PMID:25754315 PCS 2/2 P HPO:skoehler[2015-07-05];HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0034323 PMID:25754315 PCS 2/2 P HPO:probinson[2023-06-10];HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0005280 PMID:25754315 PCS 2/2 P HPO:skoehler[2015-07-05] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0030746 PMID:25754315 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000407 PMID:25754315 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000007 PMID:25754315 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000768 PMID:25754315 PCS 2/2 P HPO:skoehler[2015-07-05] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0001159 PMID:25754315 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:616430 Combined oxidative phosphorylation deficiency 25 HP:0000369 PMID:25754315 PCS 2/2 P HPO:skoehler[2015-07-05] OMIM:105830 Angelman syndrome HP:0000486 ISBN-13:978-0721606156 PCS P HPO:iea[2009-02-17] OMIM:105830 Angelman syndrome HP:0002120 ISBN-13:978-0721606156 PCS P HPO:iea[2009-02-17] OMIM:105830 Angelman syndrome HP:0001250 PMID:8929945 PCS 26/27 P HPO:iea[2009-02-17];HPO:probinson[2023-06-04] @@ -102160,6 +103196,47 @@ OMIM:617921 Amyotrophic lateral sclerosis, susceptibility to, 25 HP:0011462 PMI OMIM:617921 Amyotrophic lateral sclerosis, susceptibility to, 25 HP:0003829 OMIM:617921 IEA I HPO:skoehler[2018-10-08] OMIM:617921 Amyotrophic lateral sclerosis, susceptibility to, 25 HP:0007354 PMID:29566793 PCS 12/12 P HPO:skoehler[2019-04-18];HPO:probinson[2022-11-26] OMIM:617921 Amyotrophic lateral sclerosis, susceptibility to, 25 HP:0000006 PMID:29566793 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2022-11-26] +OMIM:620155 Rabin-Pappas syndrome HP:0000582 PMID:32710489 PCS 5/7 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0001531 PMID:32710489 PCS 12/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000541 PMID:32710489 PCS 5/10 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0001250 PMID:32710489 PCS 7/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0001252 PMID:32710489 PCS 12/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0012745 PMID:32710489 PCS 8/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0005490 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0012110 PMID:32710489 PCS 8/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000518 PMID:32710489 PCS 2/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000717 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0001548 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000316 PMID:32710489 PCS 12/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000238 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0007763 PMID:32710489 PCS 8/10 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0002779 PMID:32710489 PCS 2/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0009765 PMID:32710489 PCS 9/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000455 PMID:32710489 PCS 9/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000278 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0001249 PMID:32710489 PCS 12/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0002553 PMID:32710489 PCS 11/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000252 PMID:32710489 PCS 12/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000494 PMID:32710489 PCS 0/7 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000431 PMID:32710489 PCS 9/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000276 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0002079 PMID:32710489 PCS 9/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0001321 PMID:32710489 PCS 12/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0002791 PMID:32710489 PCS 9/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0011968 PMID:32710489 PCS 12/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0001263 PMID:32710489 PCS 12/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000272 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000609 PMID:32710489 PCS 3/10 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000407 PMID:32710489 PCS 6/8 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0007099 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000629 PMID:32710489 PCS 8/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0002902 PMID:32710489 PCS 8/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000307 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000405 PMID:32710489 PCS 7/8 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000006 PMID:32710489 PCS I HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0001513 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000303 PMID:32710489 PCS 0/12 P HPO:probinson[2023-06-07] +OMIM:620155 Rabin-Pappas syndrome HP:0000347 PMID:32710489 PCS 12/12 P HPO:probinson[2023-06-07] OMIM:300700 Albinism-Deafness syndrome HP:0001022 OMIM:300700 IEA P HPO:skoehler[2015-01-27] OMIM:300700 Albinism-Deafness syndrome HP:0007509 OMIM:300700 IEA P HPO:iea[2009-02-17] OMIM:300700 Albinism-Deafness syndrome HP:0007443 OMIM:300700 TAS P HPO:probinson[2009-02-17] @@ -102372,6 +103449,7 @@ OMIM:620141 Developmental delay, language impairment, and ocular abnormalities OMIM:620141 Developmental delay, language impairment, and ocular abnormalities HP:0000718 PMID:35047857 PCS 1/7 P HPO:probinson[2022-12-12] OMIM:620141 Developmental delay, language impairment, and ocular abnormalities HP:0000519 PMID:35047857 PCS 1/7 P HPO:probinson[2022-12-12] OMIM:620141 Developmental delay, language impairment, and ocular abnormalities HP:0020046 PMID:35047857 PCS 1/7 P HPO:probinson[2022-12-12] +OMIM:620141 Developmental delay, language impairment, and ocular abnormalities HP:0000733 PMID:35047857 PCS 1/7 P HPO:probinson[2022-12-12] OMIM:620141 Developmental delay, language impairment, and ocular abnormalities HP:0000752 PMID:35047857 PCS 1/7 P HPO:probinson[2022-12-12] OMIM:620141 Developmental delay, language impairment, and ocular abnormalities HP:0001642 PMID:35047857 PCS 1/7 P HPO:probinson[2022-12-12] OMIM:620141 Developmental delay, language impairment, and ocular abnormalities HP:0000577 PMID:35047857 PCS 1/7 P HPO:probinson[2022-12-12] @@ -102503,36 +103581,75 @@ OMIM:613762 46,xy sex reversal 6 HP:0000047 PMID:21129722 PCS 4/17 P HPO:sko OMIM:613762 46,xy sex reversal 6 HP:0000006 PMID:21129722 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2022-12-13] OMIM:613762 46,xy sex reversal 6 HP:0001007 OMIM:613762 TAS HP:0040283 P HPO:skoehler[2012-11-18] OMIM:613762 46,xy sex reversal 6 HP:0002215 OMIM:613762 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000286 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0006801 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000486 OMIM:613776 TAS P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000286 PMID:19617690 PCS 2/4 P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0002421 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0002188 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001773 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000463 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0002360 OMIM:613776 TAS P HPO:skoehler[2013-01-22] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001252 OMIM:613776 TAS P HPO:skoehler[2014-11-26] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001290 OMIM:613776 TAS P HPO:skoehler[2017-07-13] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000486 PMID:19617690 PCS 1/4 P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001252 PMID:19617690 PCS 3/4 P HPO:skoehler[2014-11-26] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0010055 OMIM:613776 TAS P HPO:skoehler[2012-10-17] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000238 OMIM:613776 TAS P HPO:skoehler[2012-10-17] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001847 OMIM:613776 TAS P HPO:skoehler[2012-10-17] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0009623 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000218 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001466 OMIM:613776 TAS I HPO:skoehler[2013-01-22] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0002414 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0020049 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001249 PMID:19617690 PCS 2/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000358 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0003700 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0002553 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000494 OMIM:613776 TAS P HPO:skoehler[2012-11-20] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000494 PMID:19617690 PCS 1/4 P HPO:skoehler[2012-11-20] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001385 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000252 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001344 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001388 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0004279 OMIM:613776 TAS P HPO:skoehler[2012-10-17] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000331 OMIM:613776 TAS P HPO:skoehler[2012-10-17] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0011968 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001263 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000470 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0003186 OMIM:613776 TAS P HPO:skoehler[2013-01-22] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001263 PMID:19617690 PCS 4/4 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000294 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0012736 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001182 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0011448 OMIM:613776 TAS P HPO:skoehler[2012-10-17] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0006380 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000426 OMIM:613776 TAS P HPO:skoehler[2012-10-17] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000348 OMIM:613776 TAS P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0002506 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001537 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0002705 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0002987 OMIM:613776 TAS P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000960 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000322 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000006 PMID:19617690 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000248 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000324 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0006801 OMIM:613776 TAS P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000341 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0003577 PMID:19617690 PCS 4/4 C HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000463 PMID:19617690 PCS 1/4 P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0002360 OMIM:613776 TAS P HPO:skoehler[2013-01-22] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000262 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0040158 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000414 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001822 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000218 PMID:19617690 PCS 1/4 P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001466 PMID:19617690 PCS I HPO:skoehler[2013-01-22];HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001166 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001562 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000475 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0002650 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0004279 OMIM:613776 TAS P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000232 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000034 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000276 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0003186 OMIM:613776 TAS P HPO:skoehler[2013-01-22] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000470 PMID:19617690 PCS 1/4 P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0045025 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0005280 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000506 PMID:19617690 PCS 2/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000508 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000426 PMID:19617690 PCS 1/4 P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001558 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000348 OMIM:613776 TAS P HPO:skoehler[2012-10-17] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0001357 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000664 PMID:19617690 PCS 1/4 P HPO:probinson[2023-06-09] OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000465 OMIM:613776 TAS HP:0040283 P HPO:skoehler[2012-11-18] -OMIM:613776 Chromosome 17p13.1 deletion syndrome HP:0000006 OMIM:613776 TAS I HPO:skoehler[2012-10-17] OMIM:614019 Lissencephaly 4 HP:0001276 PMID:21529751 PCS 2/3 P HPO:skoehler[2012-12-03];HPO:probinson[2022-08-07] OMIM:614019 Lissencephaly 4 HP:0003577 PMID:21529752;PMID:21529751 PCS 10/10 C HPO:probinson[2022-08-07];HPO:skoehler[2012-10-17];HPO:probinson[2022-08-07] OMIM:614019 Lissencephaly 4 HP:0000431 PMID:21529751 PCS 4/4 P HPO:probinson[2022-08-07] @@ -102641,6 +103758,7 @@ OMIM:617276 Developmental and epileptic encephalopathy 48 HP:0001250 PMID:27889 OMIM:617276 Developmental and epileptic encephalopathy 48 HP:0002360 PMID:27889060 PCS 3/11 P HPO:probinson[2021-02-13];HPO:probinson[2021-02-13] OMIM:617276 Developmental and epileptic encephalopathy 48 HP:0003593 PMID:27889060 PCS 5/9 C HPO:probinson[2021-02-13] OMIM:617276 Developmental and epileptic encephalopathy 48 HP:0001290 PMID:27889060 PCS 7/11 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-13] +OMIM:617276 Developmental and epileptic encephalopathy 48 HP:0000817 PMID:27889060 PCS 11/11 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-13] OMIM:617276 Developmental and epileptic encephalopathy 48 HP:0000637 PMID:27889060 PCS 1/12 P HPO:probinson[2021-02-13] OMIM:617276 Developmental and epileptic encephalopathy 48 HP:0025336 PMID:27889060 PCS 11/11 P HPO:probinson[2021-02-13];HPO:probinson[2021-02-13] OMIM:617276 Developmental and epileptic encephalopathy 48 HP:0000510 PMID:27889060 PCS 2/12 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-13] @@ -102795,6 +103913,7 @@ OMIM:609060 Combined oxidative phosphorylation deficiency 1 HP:0012448 OMIM:609 OMIM:609060 Combined oxidative phosphorylation deficiency 1 HP:0001270 OMIM:609060 IEA P HPO:iea[2009-02-17] OMIM:609060 Combined oxidative phosphorylation deficiency 1 HP:0032653 PMID:15537906 IEA 2/2 P HPO:probinson[2021-07-12] OMIM:609060 Combined oxidative phosphorylation deficiency 1 HP:0000639 OMIM:609060 TAS P HPO:skoehler[2012-10-17] +OMIM:609060 Combined oxidative phosphorylation deficiency 1 HP:0000817 OMIM:609060 TAS P HPO:skoehler[2012-10-17] OMIM:609060 Combined oxidative phosphorylation deficiency 1 HP:0001942 PMID:15537906 PCS 2/2 HP:0012828 P HPO:probinson[2009-02-17];HPO:probinson[2021-07-12] OMIM:609060 Combined oxidative phosphorylation deficiency 1 HP:0006799 PMID:15537906 PCS 1/2 P HPO:iea[2009-02-17];HPO:probinson[2021-07-12] OMIM:609060 Combined oxidative phosphorylation deficiency 1 HP:0001347 OMIM:609060 TAS P HPO:probinson[2012-09-10] @@ -103922,6 +105041,7 @@ OMIM:614959 Developmental and epileptic encephalopathy 14 HP:0001290 PMID:23086 OMIM:614959 Developmental and epileptic encephalopathy 14 HP:0002171 OMIM:614959 TAS P HPO:skoehler[2013-01-22] OMIM:614959 Developmental and epileptic encephalopathy 14 HP:0012736 PMID:23086397 PCS 12/12 P HPO:probinson[2023-03-18] OMIM:614959 Developmental and epileptic encephalopathy 14 HP:0011154 PMID:23086397 PCS 5/12 P HPO:probinson[2023-03-18] +OMIM:614959 Developmental and epileptic encephalopathy 14 HP:0000817 PMID:23086397 PCS HP:0040283 P HPO:skoehler[2012-12-30];HPO:probinson[2023-03-18] OMIM:614959 Developmental and epileptic encephalopathy 14 HP:0011153 PMID:23086397 PCS 11/12 P HPO:probinson[2023-03-18] OMIM:614959 Developmental and epileptic encephalopathy 14 HP:0002529 OMIM:614959 TAS P HPO:skoehler[2013-01-22] OMIM:614959 Developmental and epileptic encephalopathy 14 HP:0200134 PMID:23086397 PCS P HPO:skoehler[2015-01-19];HPO:probinson[2023-03-18] @@ -104043,6 +105163,7 @@ OMIM:300271 Mental retardation, X-linked 72 HP:0001250 PMID:20159109 PCS 3/9 OMIM:300271 Mental retardation, X-linked 72 HP:0001419 PMID:20159109 PCS I HPO:iea[2009-02-17];HPO:probinson[2021-08-30] OMIM:300271 Mental retardation, X-linked 72 HP:0001263 PMID:20159109 PCS P HPO:iea[2009-02-17];HPO:probinson[2021-08-30] OMIM:300271 Mental retardation, X-linked 72 HP:0000729 PMID:20159109 PCS 1/9 P HPO:probinson[2021-08-30] +OMIM:300271 Mental retardation, X-linked 72 HP:0000733 OMIM:300271 IEA P HPO:iea[2009-02-17] OMIM:300271 Mental retardation, X-linked 72 HP:0000268 OMIM:300271 IEA P HPO:iea[2009-02-17] OMIM:300271 Mental retardation, X-linked 72 HP:0000752 OMIM:300271 IEA P HPO:iea[2009-02-17] OMIM:300271 Mental retardation, X-linked 72 HP:0000256 PMID:20159109 PCS 6/9 P HPO:skoehler[2010-06-18];HPO:probinson[2021-08-30] @@ -104136,13 +105257,16 @@ OMIM:203750 Alpha-Methylacetoacetic aciduria HP:0002013 OMIM:203750 IEA P H OMIM:203750 Alpha-Methylacetoacetic aciduria HP:0001944 OMIM:203750 IEA P HPO:iea[2009-02-17] OMIM:203750 Alpha-Methylacetoacetic aciduria HP:0000007 OMIM:203750 IEA I HPO:iea[2009-02-17] OMIM:203750 Alpha-Methylacetoacetic aciduria HP:0001249 OMIM:203750 IEA P HPO:iea[2009-02-17] -OMIM:618187 Ovarian dysgenesis 8 HP:0000939 OMIM:618187 IEA P HPO:skoehler[2019-09-07] -OMIM:618187 Ovarian dysgenesis 8 HP:0011969 OMIM:618187 IEA P HPO:skoehler[2019-02-15] -OMIM:618187 Ovarian dysgenesis 8 HP:0003782 OMIM:618187 IEA P HPO:skoehler[2019-04-18] -OMIM:618187 Ovarian dysgenesis 8 HP:0008232 OMIM:618187 IEA P HPO:skoehler[2019-02-15] -OMIM:618187 Ovarian dysgenesis 8 HP:0000059 OMIM:618187 IEA P HPO:skoehler[2019-02-15] -OMIM:618187 Ovarian dysgenesis 8 HP:0000006 OMIM:618187 IEA I HPO:skoehler[2019-04-18] -OMIM:618187 Ovarian dysgenesis 8 HP:0000786 OMIM:618187 IEA P HPO:skoehler[2019-02-15] +OMIM:618187 Ovarian dysgenesis 8 HP:0000939 PMID:30113650 PCS 1/1 P HPO:skoehler[2019-09-07] +OMIM:618187 Ovarian dysgenesis 8 HP:0025708 PMID:30113650 PCS 1/1 C HPO:probinson[2023-06-08] +OMIM:618187 Ovarian dysgenesis 8 HP:0011969 PMID:30113650 PCS 1/1 P HPO:skoehler[2019-02-15] +OMIM:618187 Ovarian dysgenesis 8 HP:0003782 PMID:30113650 PCS 1/1 P HPO:skoehler[2019-04-18] +OMIM:618187 Ovarian dysgenesis 8 HP:0008232 PMID:30113650 PCS 1/1 P HPO:skoehler[2019-02-15] +OMIM:618187 Ovarian dysgenesis 8 HP:0008214 PMID:30113650 PCS 1/1 P HPO:probinson[2023-06-08] +OMIM:618187 Ovarian dysgenesis 8 HP:0031103 PMID:30113650 PCS 1/1 P HPO:probinson[2023-06-08] +OMIM:618187 Ovarian dysgenesis 8 HP:0000059 PMID:30113650 PCS 1/1 P HPO:skoehler[2019-02-15] +OMIM:618187 Ovarian dysgenesis 8 HP:0000006 PMID:30113650 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2023-06-08] +OMIM:618187 Ovarian dysgenesis 8 HP:0000786 PMID:30113650 PCS 1/1 P HPO:skoehler[2019-02-15] OMIM:608394 Deafness, autosomal dominant 43 HP:0000407 OMIM:608394 TAS P HPO:skoehler[2017-07-13] OMIM:608394 Deafness, autosomal dominant 43 HP:0000360 OMIM:608394 TAS P HPO:skoehler[2017-07-13] OMIM:608394 Deafness, autosomal dominant 43 HP:0000006 OMIM:608394 TAS I HPO:skoehler[2017-07-13] @@ -104396,6 +105520,7 @@ OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnorm OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0011170 PMID:24738973 PCS 1/3 P HP:probinson[2022-03-12] OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0000369 OMIM:614756 IEA P HPO:skoehler[2018-10-08] OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0000006 PMID:22693284 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2022-03-12] +OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0001611 PMID:24738973 PCS 1/3 P HP:probinson[2022-03-12] OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0002003 PMID:22693284 PCS 1/11 P HPO:skoehler[2012-11-18];HPO:probinson[2022-03-12] OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0000343 PMID:22693284 PCS P HPO:skoehler[2012-10-17];HPO:probinson[2022-03-12] OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0001310 PMID:22693284 PCS 5/11 HP:0012825 P HPO:skoehler[2013-06-06];HPO:probinson[2022-03-12] @@ -104404,6 +105529,7 @@ OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnorm OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0410170 PMID:22693284 PCS 4/4 P HPO:skoehler[2018-10-08];HPO:probinson[2022-03-12] OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0012450 PMID:24738973 PCS 2/3 P HP:probinson[2022-03-12] OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0005709 PMID:24738973 PCS 1/3 P HP:probinson[2022-03-12] +OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0000733 PMID:22693284 PCS 2/11 P HPO:probinson[2022-03-12];HPO:probinson[2022-03-12] OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0000414 PMID:24738973;PMID:22693284 PCS 11/13 P HPO:skoehler[2012-10-17];HPO:probinson[2022-03-12];HP:probinson[2022-03-12] OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0000337 PMID:24738973;PMID:22693284 PCS 12/13 P HP:probinson[2022-03-12];HPO:skoehler[2018-10-08];HPO:probinson[2022-03-12] OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities HP:0002317 PMID:24738973;PMID:22693284 PCS 12/14 P HPO:skoehler[2012-10-17];HPO:probinson[2022-03-12];HP:probinson[2022-03-12] @@ -104632,6 +105758,7 @@ OMIM:612469 WAGRO syndrome HP:0000729 PMID:15702131 PCS 1/2 P HPO:probinson[ OMIM:612469 WAGRO syndrome HP:0000508 PMID:15702131 PCS 1/2 P HPO:probinson[2022-08-07] OMIM:612469 WAGRO syndrome HP:0000822 PMID:15702131 PCS 1/2 P HPO:probinson[2022-08-07] OMIM:612469 WAGRO syndrome HP:0000744 PMID:15702131 PCS 1/2 P HPO:probinson[2022-08-07] +OMIM:612469 WAGRO syndrome HP:0000722 PMID:15702131 PCS 1/2 P HPO:probinson[2022-08-07] OMIM:612469 WAGRO syndrome HP:0000505 PMID:15702131 PCS 2/2 P HPO:probinson[2022-08-07] OMIM:612469 WAGRO syndrome HP:0000526 PMID:11807873;PMID:15702131 PCS 3/3 P HPO:probinson[2022-08-07] OMIM:612469 WAGRO syndrome HP:0002667 PMID:11807873;PMID:15702131 PCS 2/3 P HPO:probinson[2022-08-07] @@ -105047,10 +106174,15 @@ OMIM:262190 Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic OMIM:262190 Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities HP:0000831 OMIM:262190 IEA P HPO:iea[2009-02-17] OMIM:262190 Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities HP:0000842 OMIM:262190 IEA P HPO:iea[2009-02-17] OMIM:262190 Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities HP:0001953 OMIM:262190 IEA P HPO:iea[2009-02-17] -OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0001034 OMIM:617920 IEA P HPO:skoehler[2018-10-08] -OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0000958 OMIM:617920 IEA P HPO:skoehler[2018-10-08] -OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0000007 OMIM:617920 IEA I HPO:skoehler[2019-04-18] -OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0000989 OMIM:617920 IEA P HPO:skoehler[2018-10-08] +OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0001034 PMID:29336782 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-09] +OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0003621 PMID:29336782 PCS 6/9 C HPO:probinson[2023-06-09] +OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0020073 PMID:29336782 PCS 9/9 P HPO:probinson[2023-06-09] +OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0000992 PMID:29336782 PCS 0/9 P HPO:probinson[2023-06-09] +OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0000958 PMID:29336782 PCS 9/9 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-09] +OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0011463 PMID:29336782 PCS 3/9 C HPO:probinson[2023-06-09] +OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0007440 PMID:29336782 PCS 9/9 P HPO:probinson[2023-06-09] +OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0000007 PMID:29336782 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2023-06-09] +OMIM:617920 Amyloidosis, primary localized cutaneous, 3 HP:0000989 PMID:29336782 PCS 2/9 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-09] OMIM:608800 Sudden infant death with dysgenesis of the testes syndrome HP:0000033 OMIM:608800 IEA P HPO:iea[2009-02-17] OMIM:608800 Sudden infant death with dysgenesis of the testes syndrome HP:0002267 PMID:15273283 PCS 21/21 P HPO:probinson[2022-11-04] OMIM:608800 Sudden infant death with dysgenesis of the testes syndrome HP:0008715 OMIM:608800 IEA P HPO:iea[2009-02-17] @@ -105542,6 +106674,19 @@ OMIM:616425 46,XY sex reversal 10 HP:0008734 PMID:22051515 PCS HP:0040283 P OMIM:616425 46,XY sex reversal 10 HP:0000048 PMID:22051515 PCS 1/5 P HPO:probinson[2022-12-20] OMIM:616425 46,XY sex reversal 10 HP:0000047 PMID:22051515 PCS 1/5 P HPO:probinson[2022-12-20] OMIM:616425 46,XY sex reversal 10 HP:0000006 PMID:22051515 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2022-12-20] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0001696 PMID:36047773 PCS 0/3 P HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0002110 PMID:32555313;PMID:36047773 PCS 12/12 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0003251 PMID:32555313 PCS 2/2 P HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0033036 PMID:36047773 PCS 0/3 P HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0100582 PMID:36047773 PCS P HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0034315 PMID:32555313 PCS 2/2 P HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0011108 PMID:32555313 PCS 2/2 P HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0032559 PMID:32555313 PCS 2/2 P HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0012265 PMID:32555313 PCS 2/2 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0032560 PMID:32555313 PCS 2/2 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0011463 PMID:36047773 PCS 3/3 C HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0000007 PMID:32555313 PCS I HPO:probinson[2023-06-11] +OMIM:620197 Ciliary dyskinesia, primary, 49, without situs inversus HP:0002205 PMID:36047773 PCS 3/3 P HPO:probinson[2023-06-11] OMIM:181270 Scalp-ear-nipple syndrome HP:0001012 PMID:23541344 PCS 1/17 P HPO:probinson[2023-03-15] OMIM:181270 Scalp-ear-nipple syndrome HP:0000286 OMIM:181270 TAS 2/17 P HPO:skoehler[2013-10-06] OMIM:181270 Scalp-ear-nipple syndrome HP:0011939 OMIM:181270 TAS P HPO:probinson[2009-02-17] @@ -105602,24 +106747,31 @@ OMIM:181270 Scalp-ear-nipple syndrome HP:0001635 PMID:23541344 PCS 1/17 P HP OMIM:181270 Scalp-ear-nipple syndrome HP:0002007 PMID:23541344 PCS 1/17 P HPO:probinson[2023-03-15] OMIM:181270 Scalp-ear-nipple syndrome HP:0000303 OMIM:181270 TAS HP:0040283 P HPO:skoehler[2013-10-06] OMIM:187601 Thanatophoric dysplasia, type II HP:0003015 OMIM:187601 TAS P HPO:probinson[2015-03-21] +OMIM:187601 Thanatophoric dysplasia, type II HP:0002983 PMID:28249712 PCS HP:0030674 5/5 P HPO:probinson[2023-06-10] +OMIM:187601 Thanatophoric dysplasia, type II HP:0001156 OMIM:187601 IEA P HPO:iea[2009-02-17] +OMIM:187601 Thanatophoric dysplasia, type II HP:0008909 OMIM:187601 TAS P HPO:probinson[2012-05-01] +OMIM:187601 Thanatophoric dysplasia, type II HP:0034222 PMID:28249712 PCS 1/5 P HPO:probinson[2023-06-10] +OMIM:187601 Thanatophoric dysplasia, type II HP:0000910 OMIM:187601 IEA P HPO:iea[2009-02-17] +OMIM:187601 Thanatophoric dysplasia, type II HP:0002119 PMID:28249712 PCS 1/5 P HPO:probinson[2023-06-10] +OMIM:187601 Thanatophoric dysplasia, type II HP:0000774 PMID:28249712 PCS 5/5 P HPO:iea[2009-02-17];HPO:probinson[2023-06-10] +OMIM:187601 Thanatophoric dysplasia, type II HP:0000773 PMID:28249712 PCS 5/5 P HPO:iea[2009-02-17];HPO:probinson[2023-06-10] +OMIM:187601 Thanatophoric dysplasia, type II HP:0002676 PMID:28249712 PCS 5/5 HP:0012828 P HPO:probinson[2012-05-01];HPO:probinson[2023-06-10] +OMIM:187601 Thanatophoric dysplasia, type II HP:0002677 OMIM:187601 IEA P HPO:iea[2009-02-17] OMIM:187601 Thanatophoric dysplasia, type II HP:0000274 OMIM:187601 IEA P HPO:iea[2009-02-17] OMIM:187601 Thanatophoric dysplasia, type II HP:0001561 OMIM:187601 IEA P HPO:iea[2009-02-17] -OMIM:187601 Thanatophoric dysplasia, type II HP:0001156 OMIM:187601 IEA P HPO:iea[2009-02-17] OMIM:187601 Thanatophoric dysplasia, type II HP:0003025 OMIM:187601 TAS P HPO:probinson[2015-03-21] +OMIM:187601 Thanatophoric dysplasia, type II HP:0001321 PMID:28249712 PCS 1/5 P HPO:probinson[2023-06-10] OMIM:187601 Thanatophoric dysplasia, type II HP:0003185 OMIM:187601 IEA P HPO:iea[2009-02-17] -OMIM:187601 Thanatophoric dysplasia, type II HP:0008909 OMIM:187601 TAS P HPO:probinson[2012-05-01] OMIM:187601 Thanatophoric dysplasia, type II HP:0002093 OMIM:187601 IEA P HPO:iea[2009-02-17] +OMIM:187601 Thanatophoric dysplasia, type II HP:0034199 PMID:28249712 PCS 1/5 C HPO:probinson[2023-06-10] +OMIM:187601 Thanatophoric dysplasia, type II HP:0034198 PMID:28249712 PCS 4/5 C HPO:probinson[2023-06-10] OMIM:187601 Thanatophoric dysplasia, type II HP:0000946 OMIM:187601 IEA P HPO:iea[2009-02-17] -OMIM:187601 Thanatophoric dysplasia, type II HP:0000926 OMIM:187601 IEA P HPO:iea[2009-02-17] -OMIM:187601 Thanatophoric dysplasia, type II HP:0000910 OMIM:187601 IEA P HPO:iea[2009-02-17] +OMIM:187601 Thanatophoric dysplasia, type II HP:0000926 PMID:28249712 PCS 5/5 P HPO:iea[2009-02-17];HPO:probinson[2023-06-10] OMIM:187601 Thanatophoric dysplasia, type II HP:0006584 OMIM:187601 IEA P HPO:iea[2009-02-17] OMIM:187601 Thanatophoric dysplasia, type II HP:0001558 OMIM:187601 IEA P HPO:iea[2009-02-17] -OMIM:187601 Thanatophoric dysplasia, type II HP:0000774 OMIM:187601 IEA P HPO:iea[2009-02-17] OMIM:187601 Thanatophoric dysplasia, type II HP:0003811 OMIM:187601 IEA C HPO:iea[2009-02-17] -OMIM:187601 Thanatophoric dysplasia, type II HP:0000773 OMIM:187601 IEA P HPO:iea[2009-02-17] -OMIM:187601 Thanatophoric dysplasia, type II HP:0000006 OMIM:187601 IEA I HPO:iea[2009-02-17] -OMIM:187601 Thanatophoric dysplasia, type II HP:0002676 OMIM:187601 IEA HP:0012828 P HPO:probinson[2012-05-01] -OMIM:187601 Thanatophoric dysplasia, type II HP:0002677 OMIM:187601 IEA P HPO:iea[2009-02-17] +OMIM:187601 Thanatophoric dysplasia, type II HP:0002007 PMID:28249712 PCS 5/5 P HPO:probinson[2023-06-10] +OMIM:187601 Thanatophoric dysplasia, type II HP:0000006 PMID:7773297 PCS I HPO:iea[2009-02-17];HPO:probinson[2023-06-10] OMIM:615892 Orofacial cleft 14 HP:0000161 PMID:23519333 PCS P HP:probinson[2019-03-02] OMIM:615892 Orofacial cleft 14 HP:0000007 PMID:23860042 PCS I HPO:skoehler[2017-07-13];HP:probinson[2019-03-02] OMIM:618346 Microcephaly, growth deficiency, seizures, and brain malformations HP:0004325 PMID:26416026 PCS 2/2 P HPO:skoehler[2019-04-18];HPO:probinson[2022-04-08] @@ -105834,6 +106986,7 @@ OMIM:617061 Mental retardation, autosomal dominant 44 HP:0001182 PMID:26721934; OMIM:617061 Mental retardation, autosomal dominant 44 HP:0012378 PMID:26721934 PCS 3/4 P HPO:probinson[2022-03-28] OMIM:617061 Mental retardation, autosomal dominant 44 HP:0000729 PMID:26721934 PCS 2/4 P HPO:probinson[2022-03-28] OMIM:617061 Mental retardation, autosomal dominant 44 HP:0000767 PMID:26721934 PCS 1/4 P HPO:probinson[2022-03-28] +OMIM:617061 Mental retardation, autosomal dominant 44 HP:0000722 PMID:32109419 PCS 3/12 P HPO:skoehler[2017-07-13];HPO:probinson[2022-04-02] OMIM:617061 Mental retardation, autosomal dominant 44 HP:0004209 PMID:26721934 PCS 1/4 P HPO:probinson[2022-03-28] OMIM:617061 Mental retardation, autosomal dominant 44 HP:0000400 PMID:26721934 PCS 1/4 P HPO:skoehler[2017-07-13];HPO:probinson[2022-03-28] OMIM:617061 Mental retardation, autosomal dominant 44 HP:0001852 PMID:26721934 PCS 1/4 P HPO:probinson[2022-03-28] @@ -105851,6 +107004,7 @@ OMIM:617061 Mental retardation, autosomal dominant 44 HP:0001629 PMID:32109419 OMIM:617061 Mental retardation, autosomal dominant 44 HP:0007021 PMID:32109419 PCS 2/10 P HPO:probinson[2022-04-02] OMIM:617061 Mental retardation, autosomal dominant 44 HP:0012450 PMID:26721934;PMID:32109419 PCS 7/16 P HPO:probinson[2022-03-28];HPO:probinson[2022-04-02] OMIM:617061 Mental retardation, autosomal dominant 44 HP:0000414 PMID:32109419 PCS 1/14 P HPO:probinson[2022-04-02] +OMIM:617061 Mental retardation, autosomal dominant 44 HP:0000733 PMID:32109419 PCS 2/13 P HPO:probinson[2022-04-02] OMIM:617061 Mental retardation, autosomal dominant 44 HP:0000219 PMID:32109419 PCS 1/14 P HPO:probinson[2022-04-02] OMIM:617061 Mental retardation, autosomal dominant 44 HP:0000218 PMID:26721934;PMID:32109419 PCS 3/17 P HPO:skoehler[2017-07-13];HPO:probinson[2022-03-28];HPO:probinson[2022-04-02] OMIM:617061 Mental retardation, autosomal dominant 44 HP:0002236 PMID:32109419 PCS 1/14 P HPO:probinson[2022-04-02];HPO:probinson[2022-04-02] @@ -106607,6 +107761,7 @@ OMIM:193700 Arthrogryposis, distal, type 2A HP:0002827 OMIM:193700 IEA P HP OMIM:193700 Arthrogryposis, distal, type 2A HP:0000205 OMIM:193700 IEA P HPO:iea[2009-02-17] OMIM:193700 Arthrogryposis, distal, type 2A HP:0002987 PMID:16510655 PCS HP:0003577 11/25 P HP:probinson[2019-04-08];HPO:probinson[2019-07-03] OMIM:193700 Arthrogryposis, distal, type 2A HP:0000006 PMID:25256237 PCS I HPO:iea[2009-02-17];HP:probinson[2019-04-08] +OMIM:193700 Arthrogryposis, distal, type 2A HP:0001611 OMIM:193700 IEA P HPO:iea[2009-02-17] OMIM:193700 Arthrogryposis, distal, type 2A HP:0005997 PMID:16510655 PCS HP:0003577 24/27 P HP:probinson[2019-04-08] OMIM:193700 Arthrogryposis, distal, type 2A HP:0002047 PMID:16510655 PCS 3/19 P HP:probinson[2019-04-08] OMIM:193700 Arthrogryposis, distal, type 2A HP:0005830 OMIM:193700 TAS P HPO:probinson[2012-03-18] @@ -106909,32 +108064,36 @@ OMIM:192350 Vater associationvacterl association, included HP:0002984 OMIM:1923 OMIM:192350 Vater associationvacterl association, included HP:0003974 OMIM:192350 IEA P HPO:iea[2009-02-17] OMIM:192350 Vater associationvacterl association, included HP:0000126 OMIM:192350 IEA P HPO:iea[2009-02-17] OMIM:192350 Vater associationvacterl association, included HP:0000104 OMIM:192350 TAS P HPO:skoehler[2013-04-18] -OMIM:601005 Timothy syndrome HP:0001250 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0001290 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0012725 OMIM:601005 TAS P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0001629 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0002719 OMIM:601005 TAS P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0000717 OMIM:601005 IEA P HPO:skoehler[2018-10-08] -OMIM:601005 Timothy syndrome HP:0001943 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0000219 OMIM:601005 TAS P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0001643 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0000311 OMIM:601005 TAS P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0001249 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0001640 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0001662 OMIM:601005 IEA P HPO:skoehler[2018-10-08] -OMIM:601005 Timothy syndrome HP:0000691 OMIM:601005 TAS P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0001263 OMIM:601005 TAS P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0002090 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0005280 OMIM:601005 TAS P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0012387 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0001636 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0001657 OMIM:601005 IEA P HPO:iea[2009-02-17] -OMIM:601005 Timothy syndrome HP:0000821 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0002901 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:601005 Timothy syndrome HP:0001159 OMIM:601005 IEA P HPO:iea[2009-02-17] -OMIM:601005 Timothy syndrome HP:0000006 OMIM:601005 TAS I HPO:skoehler[2017-07-13] +OMIM:601005 Timothy syndrome HP:0002045 PMID:15454078 PCS 5/17 P HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001250 PMID:15454078 PCS 3/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001195 PMID:15454078 PCS 2/17 P HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001252 PMID:15454078 PCS 7/17 P HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0012725 PMID:15454078 PCS 17/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0002719 PMID:15454078 PCS 8/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001629 PMID:15454078 PCS 3/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0000717 PMID:15454078 PCS 10/17 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001943 PMID:15454078 PCS 7/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0000219 PMID:15454078 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001643 PMID:15454078 PCS 10/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0000311 PMID:15454078 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001249 PMID:15454078 PCS 4/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0004756 PMID:15454078 PCS 12/17 P HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001662 PMID:15454078 PCS 16/17 P HPO:skoehler[2018-10-08];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001640 PMID:15454078 PCS 6/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001263 PMID:15454078 PCS 4/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0000691 PMID:15454078 PCS 17/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0002092 PMID:15454078 PCS 3/17 P HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0002090 PMID:15454078 PCS HP:0040283 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0005280 PMID:15454078 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0012387 PMID:15454078 PCS HP:0040283 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001636 PMID:15454078 PCS 1/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0000821 PMID:15454078 PCS 2/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001657 PMID:15454078 PCS 17/17 P HPO:iea[2009-02-17];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0002901 PMID:15454078 PCS 6/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001678 PMID:15454078 PCS 16/17 P HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0000006 PMID:15454078 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] +OMIM:601005 Timothy syndrome HP:0001655 PMID:15454078 PCS 5/17 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] OMIM:601005 Timothy syndrome HP:0001699 OMIM:601005 IEA P HPO:iea[2009-02-17] -OMIM:601005 Timothy syndrome HP:0001655 OMIM:601005 TAS HP:0040283 P HPO:skoehler[2017-07-13] OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0000286 PMID:26340335 PCS 3/5 P HPO:skoehler[2015-11-15];HPO:probinson[2022-06-09] OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0003577 OMIM:616579 TAS C HPO:skoehler[2015-12-30] OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0010804 PMID:26340335 PCS 5/5 P HPO:skoehler[2015-11-15];HPO:probinson[2022-06-09] @@ -106948,6 +108107,7 @@ OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:00020 OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0003593 PMID:26340335 PCS 1/5 C HPO:probinson[2022-06-09] OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0001270 PMID:26340335 PCS 5/5 P HPO:probinson[2022-06-09] OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0012444 PMID:26340335 PCS 1/5 P HPO:probinson[2022-06-09] +OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0000733 PMID:26340335 PCS 3/5 P HPO:skoehler[2015-11-15];HPO:probinson[2022-06-09] OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0000219 PMID:26340335 PCS 4/5 P HPO:probinson[2022-06-09] OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0000218 PMID:26340335 PCS 4/4 P HPO:skoehler[2015-11-15];HPO:probinson[2022-06-09] OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0002558 PMID:25533962 PCS 1/2 P HPO:probinson[2022-06-09] @@ -107076,6 +108236,19 @@ OMIM:617115 Peeling skin syndrome 5 HP:0003593 PMID:27476651 PCS 7/7 C HPO:p OMIM:617115 Peeling skin syndrome 5 HP:0025092 PMID:27476651 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2023-02-26] OMIM:617115 Peeling skin syndrome 5 HP:0000007 PMID:27476651 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-02-26] OMIM:617115 Peeling skin syndrome 5 HP:0000962 PMID:27476651 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2023-02-26] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0031319 PMID:30715372 PCS 2/2 P HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0001670 PMID:30715372 PCS 3/8 P HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0002094 PMID:30715372 PCS 5/7 P HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0034532 PMID:30715372 PCS 2/2 P HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0031656 PMID:30715372 PCS 4/8 P HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0034386 PMID:30715372 PCS 5/7 P HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0011462 PMID:30715372 PCS 5/5 C HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0000007 PMID:30715372 PCS I HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0001962 PMID:30715372 PCS 5/7 P HPO:probinson[2023-06-16];HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0001324 PMID:30715372 PCS 0/8 P HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0001653 PMID:30715372 PCS 3/8 P HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0001645 PMID:30715372 PCS 3/11 P HPO:probinson[2023-06-16] +OMIM:620236 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies HP:0032092 PMID:30715372 PCS 3/8 P HPO:probinson[2023-06-16];HPO:probinson[2023-06-16] OMIM:618971 Tolchin-Le Caignec syndrome HP:0000341 PMID:32442410 PCS 1/19 P HPO:probinson[2020-09-10] OMIM:618971 Tolchin-Le Caignec syndrome HP:0030799 PMID:32442410 PCS 2/19 P HPO:probinson[2020-09-10] OMIM:618971 Tolchin-Le Caignec syndrome HP:0000263 PMID:32442410 PCS 1/19 P HPO:probinson[2020-09-10] @@ -107257,6 +108430,14 @@ OMIM:259270 Osteodysplasty, precocious, of danks, mayne, and kozlowski HP:00022 OMIM:259270 Osteodysplasty, precocious, of danks, mayne, and kozlowski HP:0001510 OMIM:259270 IEA P HPO:iea[2009-02-17] OMIM:259270 Osteodysplasty, precocious, of danks, mayne, and kozlowski HP:0002644 OMIM:259270 PCS P HPO:probinson[2009-02-17] OMIM:259270 Osteodysplasty, precocious, of danks, mayne, and kozlowski HP:0001831 OMIM:259270 PCS P HPO:probinson[2012-03-16] +OMIM:620222 Spermatogenic failure 80 HP:0032560 PMID:34169321 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:620222 Spermatogenic failure 80 HP:0034011 PMID:34169321 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:620222 Spermatogenic failure 80 HP:0003251 PMID:34169321 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:620222 Spermatogenic failure 80 HP:0011462 PMID:34169321 PCS 2/2 C HPO:probinson[2023-06-10] +OMIM:620222 Spermatogenic failure 80 HP:0000007 PMID:34169321 PCS I HPO:probinson[2023-06-10] +OMIM:620222 Spermatogenic failure 80 HP:0032558 PMID:34169321 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:620222 Spermatogenic failure 80 HP:0000798 PMID:34169321 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:620222 Spermatogenic failure 80 HP:0032559 PMID:34169321 PCS 2/2 P HPO:probinson[2023-06-10] OMIM:616948 Spinocerebellar ataxia, autosomal recessive 22 HP:0002078 PMID:26157035 PCS P HPO:probinson[2017-06-25] OMIM:616948 Spinocerebellar ataxia, autosomal recessive 22 HP:0002079 PMID:26157035 PCS P HPO:probinson[2017-06-25] OMIM:616948 Spinocerebellar ataxia, autosomal recessive 22 HP:0001310 PMID:26157035 PCS P HPO:probinson[2017-06-25] @@ -107523,6 +108704,8 @@ OMIM:619312 Radio-Tartaglia syndrome HP:0005274 PMID:33596411 PCS 4/32 P HPO OMIM:619312 Radio-Tartaglia syndrome HP:0002282 PMID:33596411 PCS 2/32 P HPO:probinson[2021-07-06] OMIM:619312 Radio-Tartaglia syndrome HP:0001270 PMID:33596411 PCS 8/32 P HPO:probinson[2021-07-06] OMIM:619312 Radio-Tartaglia syndrome HP:0001629 PMID:33596411 PCS 3/32 P HPO:probinson[2021-07-06] +OMIM:619312 Radio-Tartaglia syndrome HP:0000817 PMID:33596411 PCS 3/32 P HPO:probinson[2021-07-06] +OMIM:619312 Radio-Tartaglia syndrome HP:0000733 PMID:33596411 PCS 13/28 P HPO:probinson[2021-07-06] OMIM:619312 Radio-Tartaglia syndrome HP:0000414 PMID:33596411 PCS 8/32 P HPO:probinson[2021-07-06] OMIM:619312 Radio-Tartaglia syndrome HP:0000219 PMID:33596411 PCS 5/32 P HPO:probinson[2021-07-06] OMIM:619312 Radio-Tartaglia syndrome HP:0000218 PMID:33596411 PCS 4/32 P HPO:probinson[2021-07-06] @@ -107603,10 +108786,12 @@ OMIM:606232 Phelan-Mcdermid syndrome HP:0002719 PMID:20186804 PCS 4/13 P HPO OMIM:606232 Phelan-Mcdermid syndrome HP:0100703 PMID:18505557 PCS 15% P HPO:iea[2012-04-24] OMIM:606232 Phelan-Mcdermid syndrome HP:0001629 ISBN-13:978-0721606156 PCS HP:0040283 P HPO:iea[2012-04-24] OMIM:606232 Phelan-Mcdermid syndrome HP:0100704 PMID:20301377 PCS 6% P HPO:iea[2012-04-24];HPO:probinson[2019-11-28] +OMIM:606232 Phelan-Mcdermid syndrome HP:0000817 PMID:18505557 PCS HP:0040282 P HPO:iea[2012-04-24] OMIM:606232 Phelan-Mcdermid syndrome HP:0100702 PMID:18505557 PCS 15% P HPO:iea[2012-04-24] OMIM:606232 Phelan-Mcdermid syndrome HP:0011120 OMIM:606232 TAS P HPO:skoehler[2012-10-17] OMIM:606232 Phelan-Mcdermid syndrome HP:0002518 ISBN-13:978-0721606156 PCS HP:0040283 P HPO:iea[2012-04-24] OMIM:606232 Phelan-Mcdermid syndrome HP:0000414 PMID:20186804 PCS 9/13 P HPO:iea[2012-04-24];HPO:probinson[2019-11-28] +OMIM:606232 Phelan-Mcdermid syndrome HP:0000733 PMID:18505557 PCS HP:0040282 P HPO:iea[2012-04-24] OMIM:606232 Phelan-Mcdermid syndrome HP:0002317 PMID:20301377 PCS HP:0040282 P HPO:iea[2012-04-24];HPO:probinson[2019-11-28] OMIM:606232 Phelan-Mcdermid syndrome HP:0002119 ISBN-13:978-0721606156 PCS HP:0040283 P HPO:iea[2012-04-24] OMIM:606232 Phelan-Mcdermid syndrome HP:0000218 PMID:23758760;PMID:20301377 PCS 13/42 P HPO:probinson[2019-11-28];HPO:iea[2012-04-24];HPO:probinson[2019-11-28] @@ -107621,6 +108806,7 @@ OMIM:606232 Phelan-Mcdermid syndrome HP:0000750 PMID:20186804 PCS 13/13 P HP OMIM:606232 Phelan-Mcdermid syndrome HP:0000431 PMID:23758760;PMID:20301377 PCS 10/42 P HPO:probinson[2019-11-28];HPO:iea[2012-04-24];HPO:probinson[2019-11-28] OMIM:606232 Phelan-Mcdermid syndrome HP:0002572 PMID:18505557 PCS HP:0040282 P HPO:iea[2012-04-24] OMIM:606232 Phelan-Mcdermid syndrome HP:0000272 PMID:20301377 PCS HP:0040282 P HPO:iea[2012-04-24];HPO:probinson[2019-11-28] +OMIM:606232 Phelan-Mcdermid syndrome HP:0000708 PMID:20186804;PMID:18505557 PCS 21/23 P HPO:probinson[2019-11-28];HPO:iea[2012-04-24] OMIM:606232 Phelan-Mcdermid syndrome HP:0100797 OMIM:606232 TAS P HPO:skoehler[2012-10-17] OMIM:606232 Phelan-Mcdermid syndrome HP:0000508 PMID:18505557 PCS HP:0040282 P HPO:iea[2012-04-24] OMIM:606232 Phelan-Mcdermid syndrome HP:0001319 PMID:20301377 PCS HP:0040281 P HPO:iea[2012-04-24];HPO:probinson[2019-11-28] @@ -107890,6 +109076,7 @@ OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome HP:0000960 PMID:19764 OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome HP:0000303 PMID:19764020 PCS 1/4 P HPO:probinson[2022-11-06] OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome HP:0000369 PMID:19764020 PCS 4/4 P HPO:skoehler[2012-10-17];HPO:probinson[2022-11-06] OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome HP:0000006 PMID:19764020 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2022-11-06] +OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome HP:0001611 PMID:19764020 PCS 1/4 P HPO:probinson[2022-11-06] OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome HP:0000544 PMID:19764020 PCS 1/4 P HPO:probinson[2022-11-06] OMIM:615272 Fanconi anemia, complementation group Q HP:0000252 PMID:23623386 PCS 1/2 P HPO:skoehler[2013-08-18];HPO:probinson[2022-03-15] OMIM:615272 Fanconi anemia, complementation group Q HP:0003577 PMID:23623386 PCS 2/2 C HPO:probinson[2022-03-15];HPO:probinson[2022-03-15] @@ -108561,12 +109748,12 @@ OMIM:613670 Mental retardation with language impairment and with or without auti OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000718 PMID:26647308 PCS 1/1 P HPO:skoehler[2012-10-17];HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000739 PMID:26647308 PCS 2/2 P HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000316 PMID:26647308 PCS 2/3 P HPO:skoehler[2017-07-13];HPO:probinson[2020-12-13] +OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000733 PMID:20950788 PCS 2/2 P HPO:skoehler[2012-10-17];HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0008872 PMID:24214399 PCS 1/1 P HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000455 PMID:24214399 PCS 1/1 P HPO:skoehler[2014-11-26];HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000278 PMID:26647308 PCS 1/3 P HPO:skoehler[2017-07-13];HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000256 PMID:26647308;PMID:25131622 PCS 2/4 P HPO:probinson[2020-12-13];HPO:skoehler[2014-11-26];HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0001249 PMID:20950788;PMID:25131622 PCS 3/3 P HPO:skoehler[2013-06-16];HPO:probinson[2020-12-13];HPO:probinson[2020-12-13] -OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000732 PMID:20950788 PCS 2/2 P HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000494 PMID:24214399 PCS 1/1 P HPO:skoehler[2014-11-26];HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000750 PMID:24214399;PMID:20950788;PMID:26647308 PCS 5/5 HP:0012828 P HPO:probinson[2020-12-13];HPO:skoehler[2014-11-26];HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0031936 PMID:24214399 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2020-12-13] @@ -108578,6 +109765,7 @@ OMIM:613670 Mental retardation with language impairment and with or without auti OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000729 PMID:26647308 PCS 1/3 P HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0011098 PMID:26647308 PCS 1/3 P HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000805 PMID:26647308 PCS 1/3 P HPO:probinson[2020-12-13] +OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0000722 PMID:26647308 PCS 3/3 P HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0100716 PMID:20950788 PCS 2/2 P HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0002307 PMID:24214399 PCS 1/1 P HPO:probinson[2020-12-13] OMIM:613670 Mental retardation with language impairment and with or without autistic features HP:0007018 PMID:26647308 PCS 2/3 P HPO:probinson[2020-12-13] @@ -108671,6 +109859,7 @@ OMIM:616708 Desanto-Shinawi syndrome HP:0003186 PMID:26264232 PCS P HPO:pro OMIM:616708 Desanto-Shinawi syndrome HP:0000470 OMIM:616708 TAS P HPO:skoehler[2017-07-13] OMIM:616708 Desanto-Shinawi syndrome HP:0011800 OMIM:616708 TAS P HPO:skoehler[2017-07-13] OMIM:616708 Desanto-Shinawi syndrome HP:0005280 PMID:26264232 PCS P HPO:probinson[2017-06-17] +OMIM:616708 Desanto-Shinawi syndrome HP:0000708 PMID:26264232 PCS 5/6 P HPO:probinson[2017-06-17] OMIM:616708 Desanto-Shinawi syndrome HP:0000407 OMIM:616708 TAS HP:0040283 P HPO:skoehler[2017-07-13] OMIM:616708 Desanto-Shinawi syndrome HP:0000664 PMID:26264232 PCS P HPO:probinson[2017-06-17] OMIM:616708 Desanto-Shinawi syndrome HP:0007018 OMIM:616708 TAS P HPO:skoehler[2017-07-13] @@ -108689,39 +109878,60 @@ OMIM:150260 Laryngeal abductor paralysis HP:0000961 OMIM:150260 IEA P HPO:s OMIM:150260 Laryngeal abductor paralysis HP:0000006 OMIM:150260 IEA I HPO:iea[2009-02-17] OMIM:150260 Laryngeal abductor paralysis HP:0001249 OMIM:150260 IEA P HPO:iea[2009-02-17] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0004325 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000343 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000121 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000486 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0004322 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0002021 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000160 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001290 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0011712 OMIM:617402 IEA P HPO:skoehler[2018-10-08] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0010761 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0003391 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000639 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000316 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000678 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000218 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000455 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000316 PMID:27023906 PCS 1/2 P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001845 PMID:27023906 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000678 PMID:27023906 PCS 1/2 P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001324 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001763 OMIM:617402 TAS P HPO:skoehler[2017-07-13] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001601 OMIM:617402 TAS P HPO:skoehler[2017-07-13] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001188 OMIM:617402 TAS P HPO:skoehler[2017-07-13] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0002751 OMIM:617402 TAS P HPO:skoehler[2017-07-13] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001385 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000054 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001388 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001762 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0200128 OMIM:617402 IEA P HPO:skoehler[2018-10-08] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0005180 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0005180 PMID:27023906 PCS 1/2 P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0012385 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0006380 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001519 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000007 OMIM:617402 TAS I HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0009099 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000327 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000007 PMID:27023906 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-06-10] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0003758 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000307 OMIM:617402 IEA P HPO:skoehler[2018-10-08] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001659 OMIM:617402 TAS P HPO:skoehler[2017-07-13] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0009933 OMIM:617402 TAS P HPO:skoehler[2017-07-13] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001631 OMIM:617402 TAS P HPO:skoehler[2017-07-13] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0008689 OMIM:617402 TAS P HPO:skoehler[2017-07-13] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0002107 OMIM:617402 IEA P HPO:skoehler[2019-09-07] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001634 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001015 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000369 OMIM:617402 TAS P HPO:skoehler[2017-07-13] OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000325 OMIM:617402 IEA P HPO:skoehler[2018-10-08] -OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000621 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001655 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0003577 PMID:27023906 PCS 2/2 C HPO:probinson[2023-06-10];HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000343 PMID:27023906 PCS 1/2 P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000463 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000581 PMID:27023906 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0011712 OMIM:617402 IEA P HPO:skoehler[2018-10-08] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0011120 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000218 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000455 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000973 PMID:27023906 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001562 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001762 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0200128 OMIM:617402 IEA P HPO:skoehler[2018-10-08] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000272 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001519 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000307 OMIM:617402 IEA P HPO:skoehler[2018-10-08] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001631 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000303 PMID:27023906 PCS 1/2 P HPO:probinson[2023-06-10] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0001634 OMIM:617402 TAS P HPO:skoehler[2017-07-13] +OMIM:617402 Cutis laxa, autosomal recessive, type IIC HP:0000621 PMID:27023906 PCS 2/2 P HPO:skoehler[2017-07-13] OMIM:618731 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies HP:0001572 PMID:31256877 PCS 1/5 P HPO:probinson[2020-05-11] OMIM:618731 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies HP:0001792 PMID:31256877 PCS 1/5 P HPO:probinson[2020-05-11] OMIM:618731 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies HP:0002188 PMID:31256877 PCS 1/5 P HPO:probinson[2020-05-11] @@ -109238,6 +110448,13 @@ OMIM:607822 Alzheimer disease 3 HP:0003678 OMIM:607822 IEA C HPO:iea[2009-0 OMIM:600195 Venous malformations, multiple cutaneous and mucosal HP:0002584 OMIM:600195 IEA P HPO:skoehler[2010-06-20] OMIM:600195 Venous malformations, multiple cutaneous and mucosal HP:0000006 PMID:8980225 PCS I HPO:iea[2009-02-17];HPO:probinson[2023-03-31] OMIM:600195 Venous malformations, multiple cutaneous and mucosal HP:0012721 PMID:10369874 PCS P HPO:skoehler[2015-01-27];HPO:probinson[2023-03-31] +OMIM:620245 Episodic kinesigenic dyskinesia 3 HP:0000473 PMID:35707035 PCS 1/4 HP:0025228 P HPO:probinson[2023-06-15];HPO:probinson[2023-06-15] +OMIM:620245 Episodic kinesigenic dyskinesia 3 HP:0003621 PMID:35707035;PMID:34518509 PCS 20/20 C HPO:probinson[2023-06-15];HPO:probinson[2023-06-15];HPO:probinson[2023-06-15] +OMIM:620245 Episodic kinesigenic dyskinesia 3 HP:0001332 PMID:35707035;PMID:34518509 PCS 17/21 HP:0025228;HP:0025228 P HPO:probinson[2023-06-15];HPO:probinson[2023-06-15];HPO:probinson[2023-06-15] +OMIM:620245 Episodic kinesigenic dyskinesia 3 HP:0001266 PMID:34518509 PCS 3/17 HP:0025228 P HPO:probinson[2023-06-15] +OMIM:620245 Episodic kinesigenic dyskinesia 3 HP:0003829 PMID:35707035;PMID:34518509 PCS 20/20 I HPO:probinson[2023-06-15] +OMIM:620245 Episodic kinesigenic dyskinesia 3 HP:0000006 PMID:34518509 PCS I HPO:probinson[2023-06-15] +OMIM:620245 Episodic kinesigenic dyskinesia 3 HP:0004305 PMID:35707035 PCS 3/4 HP:0025228 P HPO:probinson[2023-06-15];HPO:probinson[2023-06-15] OMIM:618916 Epileptic encephalopathy, early infantile, 87 HP:0001276 PMID:32330417 PCS 3/3 P HPO:probinson[2020-08-11] OMIM:618916 Epileptic encephalopathy, early infantile, 87 HP:0000154 PMID:32330417 PCS 3/3 P HPO:probinson[2020-08-11] OMIM:618916 Epileptic encephalopathy, early infantile, 87 HP:0002059 PMID:32330417 PCS 1/3 HP:0012825 P HPO:probinson[2020-08-11] @@ -109408,6 +110625,7 @@ OMIM:176270 Prader-Willi syndrome HP:0005978 http://www.ncbi.nlm.nih.gov/booksh OMIM:176270 Prader-Willi syndrome HP:0000842 OMIM:176270 TAS P HPO:iea[2009-02-17] OMIM:176270 Prader-Willi syndrome HP:0000446 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws TAS HP:0040282 P HPO:iea[2010-10-08] OMIM:176270 Prader-Willi syndrome HP:0000006 OMIM:176270 IEA I HPO:skoehler[2019-04-18] +OMIM:176270 Prader-Willi syndrome HP:0001611 ISBN-13:978-0721606156 TAS HP:0040282 P HPO:iea[2009-02-17] OMIM:176270 Prader-Willi syndrome HP:0000341 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws TAS HP:0040282 P HPO:iea[2009-02-17] OMIM:176270 Prader-Willi syndrome HP:0000582 ISBN-13:978-0721606156 TAS HP:0040283 P HPO:iea[2009-02-17] OMIM:176270 Prader-Willi syndrome HP:0003577 PMID:35160130 PCS 98/244 C HPO:probinson[2022-05-14] @@ -109437,6 +110655,7 @@ OMIM:176270 Prader-Willi syndrome HP:0002650 PMID:35329900 PCS 150/180 P HPO OMIM:176270 Prader-Willi syndrome HP:0004279 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws TAS HP:0040281 P HPO:iea[2009-02-17] OMIM:176270 Prader-Willi syndrome HP:0010535 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws TAS HP:0040282 P HPO:iea[2010-10-08] OMIM:176270 Prader-Willi syndrome HP:0000709 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws TAS 15% P HPO:iea[2010-10-08] +OMIM:176270 Prader-Willi syndrome HP:0000708 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws TAS HP:0040282 P HPO:iea[2009-02-17] OMIM:176270 Prader-Willi syndrome HP:0000826 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws TAS 4% P HPO:iea[2010-10-08] OMIM:176270 Prader-Willi syndrome HP:0002808 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws TAS HP:0040282 P HPO:iea[2010-10-08] OMIM:176270 Prader-Willi syndrome HP:0007010 ISBN-13:978-0721606156 TAS HP:0040283 P HPO:iea[2009-02-17] @@ -109590,6 +110809,7 @@ OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked HP:0000463 OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked HP:0001629 OMIM:301040 IEA P HPO:skoehler[2010-06-20] OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked HP:0011682 OMIM:301040 TAS P HPO:skoehler[2012-10-17] OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked HP:0008551 OMIM:301040 IEA P HPO:iea[2009-02-17] +OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked HP:0000733 PMID:21218045 PCS 1/1 P HPO:probinson[2022-08-23] OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked HP:0030084 OMIM:301040 TAS P HPO:skoehler[2014-09-21] OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked HP:0001423 OMIM:301040 IEA I HPO:iea[2009-02-17] OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked HP:0000179 OMIM:301040 IEA P HPO:iea[2009-02-17] @@ -109692,29 +110912,30 @@ OMIM:181405 Scapuloperoneal spinal muscular atrophy HP:0200055 OMIM:181405 TAS OMIM:181405 Scapuloperoneal spinal muscular atrophy HP:0000006 OMIM:181405 TAS I HPO:probinson[2012-04-11] OMIM:181405 Scapuloperoneal spinal muscular atrophy HP:0003634 OMIM:181405 TAS P HPO:probinson[2012-04-11] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0002069 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] +OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0001272 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] +OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0001252 PMID:33880529 PCS 4/6 P HPO:probinson[2022-02-26] +OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0003593 PMID:33880529 PCS 1/6 C HPO:probinson[2022-02-26] +OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0033725 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] +OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0012650 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] +OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0011463 PMID:33880529 PCS 2/6 C HPO:probinson[2022-02-26] +OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0000817 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] +OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0020221 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] +OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0001522 PMID:33880529 PCS 1/6 C HPO:probinson[2022-02-26] +OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0003623 PMID:33880529 PCS 1/6 C HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0003621 PMID:33880529 PCS 3/6 C HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0002059 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0001344 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] -OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0001272 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0001263 PMID:33880529 PCS 5/6 P HPO:probinson[2022-02-26] -OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0001252 PMID:33880529 PCS 4/6 P HPO:probinson[2022-02-26] -OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0003593 PMID:33880529 PCS 1/6 C HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0005484 PMID:33880529 PCS 2/6 P HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0010851 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] -OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0033725 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0010535 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0032867 PMID:33880529 PCS 2/6 P HPO:probinson[2022-02-26] -OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0012650 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0007074 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0003819 PMID:33880529 PCS 1/6 C HPO:probinson[2022-02-26] -OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0011463 PMID:33880529 PCS 2/6 C HPO:probinson[2022-02-26] -OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0020221 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0007334 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] -OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0001522 PMID:33880529 PCS 1/6 C HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0007359 PMID:33880529 PCS 4/6 P HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0007018 PMID:33880529 PCS 1/6 P HPO:probinson[2022-02-26] OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0000006 PMID:33880529 PCS I HPO:probinson[2022-02-26] -OMIM:619605 Developmental and epileptic encephalopathy 98 HP:0003623 PMID:33880529 PCS 1/6 C HPO:probinson[2022-02-26] OMIM:620084 Spermatogenic failure 76 HP:0033393 PMID:34348960 PCS 1/2 P HPO:probinson[2022-11-24] OMIM:620084 Spermatogenic failure 76 HP:0003251 PMID:34348960 PCS 2/2 P HPO:probinson[2022-11-24] OMIM:620084 Spermatogenic failure 76 HP:0011462 PMID:34348960 PCS 2/2 C HPO:probinson[2022-11-24] @@ -110300,6 +111521,7 @@ OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:00327 OMIM:617600 Mental retardation, autosomal dominant 45 HP:0001270 PMID:21076407 PCS 1/1 P HPO:probinson[2022-06-12] OMIM:617600 Mental retardation, autosomal dominant 45 HP:0011463 PMID:28288114 PCS 2/5 C HPO:probinson[2022-06-12] OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0000739 PMID:28288114 PCS 1/5 P HPO:probinson[2022-06-12] +OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0000733 PMID:28288114 PCS 1/5 P HPO:probinson[2022-06-12] OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0000752 PMID:28288114 PCS 1/5 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0001763 PMID:28288114 PCS 1/5 P HPO:probinson[2022-06-12] OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0001642 PMID:28288114 PCS 1/5 P HPO:probinson[2022-06-12] @@ -110311,6 +111533,7 @@ OMIM:617600 Mental retardation, autosomal dominant 45 HP:0000750 PMID:21076407; OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0030148 PMID:28288114 PCS 1/5 P HPO:probinson[2022-06-12] OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0002650 PMID:28288114 PCS 1/5 P HPO:probinson[2022-06-12] OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0002376 PMID:28288114 PCS 1/5 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12] +OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0030223 PMID:28288114 PCS 1/5 P HPO:probinson[2022-06-12] OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0001263 PMID:21076407;PMID:28288114 PCS 2/6 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-12];HPO:probinson[2022-06-12] OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0002072 PMID:28288114 PCS 1/5 P HPO:probinson[2022-06-12] OMIM:617600 Intellectual developmental disorder, autosomal dominant 45 HP:0100021 PMID:28288114 PCS 1/5 P HPO:probinson[2022-06-12] @@ -110473,6 +111696,7 @@ OMIM:600383 Mesomelia-Synostoses syndrome HP:0000347 PMID:20602915 PCS 5/5 HP OMIM:600383 Mesomelia-Synostoses syndrome HP:0000545 PMID:20602915 PCS 2/5 P HPO:probinson[2023-03-08] OMIM:600383 Mesomelia-Synostoses syndrome HP:0000126 PMID:20602915 PCS 3/4 P HPO:iea[2009-02-17];HPO:probinson[2023-03-08] OMIM:600383 Mesomelia-Synostoses syndrome HP:0008845 OMIM:600383 IEA P HPO:iea[2009-02-17] +OMIM:600383 Mesomelia-Synostoses syndrome HP:0001611 PMID:20602915 PCS 5/5 P HPO:iea[2009-02-17];HPO:probinson[2023-03-08] OMIM:608907 Alzheimer disease 9, susceptibility to HP:0002354 OMIM:608907 TAS HP:0003676 P HPO:skoehler[2017-07-13] OMIM:608907 Alzheimer disease 9, susceptibility to HP:0000716 OMIM:608907 TAS P HPO:skoehler[2017-07-13] OMIM:608907 Alzheimer disease 9, susceptibility to HP:0002120 OMIM:608907 TAS P HPO:skoehler[2017-07-13] @@ -110547,6 +111771,7 @@ OMIM:164310 Oculopharyngodistal myopathy 1 HP:0001337 PMID:31332380 PCS 1/4 OMIM:164310 Oculopharyngodistal myopathy 1 HP:0003458 PMID:21242490;PMID:31332380 PCS 18/19 P HPO:probinson[2021-07-02];HPO:probinson[2012-04-11];HPO:probinson[2021-07-02] OMIM:164310 Oculopharyngodistal myopathy 1 HP:0000544 PMID:32493488;PMID:31332380 PCS 4/5 P HPO:probinson[2012-04-11];HPO:probinson[2021-07-02];HPO:probinson[2021-10-16] OMIM:164310 Oculopharyngodistal myopathy 1 HP:0003557 OMIM:164310 TAS P HPO:probinson[2012-04-11] +OMIM:164310 Oculopharyngodistal myopathy 1 HP:0001611 PMID:31332380 PCS P HPO:skoehler[2012-10-17];HPO:probinson[2021-07-02] OMIM:208500 Short-Rib thoracic dysplasia 1 with or without polydactyly HP:0003038 OMIM:208500 IEA P HPO:iea[2009-02-17] OMIM:208500 Short-Rib thoracic dysplasia 1 with or without polydactyly HP:0002089 OMIM:208500 IEA P HPO:iea[2009-02-17] OMIM:208500 Short-Rib thoracic dysplasia 1 with or without polydactyly HP:0000123 OMIM:208500 IEA P HPO:skoehler[2018-10-08] @@ -111079,6 +112304,7 @@ OMIM:618453 Intellectual developmental disorder with short stature and variable OMIM:618453 Intellectual developmental disorder with short stature and variable skeletal anomalies HP:0009778 PMID:30968111 PCS P HPO:probinson[2019-07-07] OMIM:300799 Mental retardation, x-linked syndromic, Raymond type HP:0001166 OMIM:300799 IEA P HPO:skoehler[2013-01-11] OMIM:300799 Mental retardation, x-linked syndromic, Raymond type HP:0009183 OMIM:300799 IEA P HPO:skoehler[2013-01-11] +OMIM:300799 Mental retardation, x-linked syndromic, Raymond type HP:0000708 OMIM:300799 IEA HP:0040283 P HPO:skoehler[2013-01-11] OMIM:300799 Mental retardation, x-linked syndromic, Raymond type HP:0000486 OMIM:300799 IEA P HPO:skoehler[2013-01-11] OMIM:300799 Mental retardation, x-linked syndromic, Raymond type HP:0001519 OMIM:300799 IEA P HPO:skoehler[2013-01-11] OMIM:300799 Mental retardation, x-linked syndromic, Raymond type HP:0001417 OMIM:300799 IEA I HPO:skoehler[2013-01-11] @@ -111319,6 +112545,7 @@ OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or le OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 HP:0001263 PMID:30576410 PCS 2/6 P HPO:probinson[2022-09-04] OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 HP:0002171 PMID:30576410 PCS P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-04] OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 HP:0002072 PMID:30576410 PCS 1/6 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-04] +OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 HP:0000708 PMID:30576410 PCS 1/6 P HPO:probinson[2022-09-04] OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 HP:0003819 PMID:30576410 PCS 6/6 C HPO:probinson[2022-09-04];HPO:probinson[2022-09-04] OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 HP:0008066 PMID:30576410 PCS 1/6 P HPO:probinson[2022-09-04] OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 HP:0000602 PMID:30576410 PCS 2/6 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-04] @@ -111897,6 +113124,7 @@ OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type HP:00 OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type HP:0000322 OMIM:309583 IEA P HPO:skoehler[2010-06-18] OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type HP:0000248 PMID:19206178 PCS 2/2 P HPO:probinson[2021-10-15] OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type HP:0000324 PMID:19206178 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2021-10-15] +OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type HP:0001611 PMID:19206178 PCS P HPO:iea[2009-02-17];HPO:probinson[2021-10-15] OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type HP:0000463 PMID:19206178 PCS 2/2 P HPO:probinson[2021-10-15] OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type HP:0002684 PMID:19206178 PCS 2/2 P HPO:probinson[2021-10-15] OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type HP:0000939 OMIM:309583 IEA P HPO:iea[2009-02-17] @@ -112383,6 +113611,7 @@ OMIM:619229 Kohlschutter-Tonz syndrome-like HP:0010864 PMID:33513338 PCS 6/25 OMIM:619229 Kohlschutter-Tonz syndrome-like HP:0001629 PMID:33513338 PCS 2/25 P HPO:probinson[2021-06-20];HPO:probinson[2021-06-20] OMIM:619229 Kohlschutter-Tonz syndrome-like HP:0011166 PMID:33513338 PCS 2/25 P HPO:probinson[2021-06-20];HPO:probinson[2021-06-20] OMIM:619229 Kohlschutter-Tonz syndrome-like HP:0006297 PMID:33513338 PCS 3/25 P HPO:probinson[2021-06-20];HPO:probinson[2021-06-20] +OMIM:619229 Kohlschutter-Tonz syndrome-like HP:0000733 PMID:33513338 PCS 7/25 P HPO:probinson[2021-06-20];HPO:probinson[2021-06-20] OMIM:619229 Kohlschutter-Tonz syndrome-like HP:0000736 PMID:33513338 PCS 2/25 P HPO:probinson[2021-06-20];HPO:probinson[2021-06-20] OMIM:619229 Kohlschutter-Tonz syndrome-like HP:0002119 PMID:33513338 PCS 2/25 P HPO:probinson[2021-06-20];HPO:probinson[2021-06-20] OMIM:619229 Kohlschutter-Tonz syndrome-like HP:0012171 PMID:33513338 PCS 2/25 P HPO:probinson[2021-06-20];HPO:probinson[2021-06-20] @@ -113091,6 +114320,8 @@ OMIM:182290 Smith-Magenis syndrome HP:0031849 PMID:11445803 PCS P HPO:lccar OMIM:182290 Smith-Magenis syndrome HP:0002360 PMID:17539903 PCS 44/50 P HPO:iea[2009-02-17];HP:probinson[2019-06-12] OMIM:182290 Smith-Magenis syndrome HP:0012210 OMIM:182290 TAS P HPO:skoehler[2012-10-17] OMIM:182290 Smith-Magenis syndrome HP:0002715 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sms IEA HP:0040282 P HPO:iea[2010-09-09] +OMIM:182290 Smith-Magenis syndrome HP:0000733 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sms IEA HP:0003593 HP:0040282 P HPO:iea[2010-09-09] +OMIM:182290 Smith-Magenis syndrome HP:0000733 PMID:17539903 PCS 35/59 P HPO:iea[2010-09-09];HP:probinson[2019-06-12] OMIM:182290 Smith-Magenis syndrome HP:0030680 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sms IEA HP:0040282 P HPO:iea[2009-02-17] OMIM:182290 Smith-Magenis syndrome HP:0002119 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sms IEA HP:0040282 P HPO:iea[2010-09-09] OMIM:182290 Smith-Magenis syndrome HP:0001627 OMIM:182290 TAS P HPO:skoehler[2015-12-30] @@ -113103,6 +114334,7 @@ OMIM:182290 Smith-Magenis syndrome HP:0032508 OMIM:182290 IEA P HPO:skoehle OMIM:182290 Smith-Magenis syndrome HP:0032509 OMIM:182290 IEA P HPO:skoehler[2019-09-07] OMIM:182290 Smith-Magenis syndrome HP:0000272 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sms IEA HP:0040282 P HPO:iea[2009-02-17] OMIM:182290 Smith-Magenis syndrome HP:0001284 OMIM:182290 TAS P HPO:skoehler[2013-01-22] +OMIM:182290 Smith-Magenis syndrome HP:0000708 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sms IEA HP:0040282 P HPO:iea[2009-02-17] OMIM:182290 Smith-Magenis syndrome HP:0012168 OMIM:182290 TAS P HPO:skoehler[2013-02-25] OMIM:182290 Smith-Magenis syndrome HP:0010780 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sms IEA HP:0040282 P HPO:iea[2010-09-09] OMIM:182290 Smith-Magenis syndrome HP:0009830 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sms IEA HP:0040282 P HPO:iea[2009-02-17] @@ -113610,6 +114842,7 @@ OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome HP:0011 OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome HP:0000316 PMID:26246518 PCS 1/2 P HPO:skoehler[2015-12-30];HPO:probinson[2023-03-08] OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome HP:0001845 PMID:26246518 PCS 2/4 P HPO:skoehler[2015-12-30];HPO:probinson[2023-03-08] OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome HP:0000414 OMIM:616682 IEA P HPO:skoehler[2019-09-07] +OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome HP:0000733 OMIM:616682 IEA P HPO:skoehler[2019-09-07] OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome HP:0002317 PMID:26246518 PCS 1/3 P HPO:skoehler[2019-09-07];HPO:probinson[2023-03-08] OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome HP:0001643 OMIM:616682 IEA HP:0040284 P HPO:skoehler[2019-09-07] OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome HP:0002019 OMIM:616682 TAS P HPO:skoehler[2015-12-30] @@ -113814,6 +115047,7 @@ OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies HP: OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies HP:0002360 PMID:33513338 PCS 12/29 P HPO:probinson[2021-05-14] OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies HP:0001251 PMID:33513338 PCS 6/27 P HPO:probinson[2021-05-14] OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies HP:0001270 PMID:33513338 PCS 34/37 P HPO:probinson[2021-05-14] +OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies HP:0000708 PMID:33513338 PCS 24/34 P HPO:probinson[2021-05-14] OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies HP:0001257 PMID:33513338 PCS 10/36 P HPO:probinson[2021-05-14] OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies HP:0000006 PMID:33513338 PCS I HPO:probinson[2021-05-14];HPO:probinson[2021-05-14] OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies HP:0001249 PMID:33513338 PCS 28/31 P HPO:probinson[2021-05-14] @@ -113884,16 +115118,6 @@ OMIM:608443 Intellectual developmental disorder, autosomal recessive 3 HP:00007 OMIM:608443 Intellectual developmental disorder, autosomal recessive 3 HP:0000752 PMID:14569116 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2022-06-16] OMIM:608443 Intellectual developmental disorder, autosomal recessive 3 HP:0002546 PMID:14569116 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2022-06-16] OMIM:608443 Intellectual developmental disorder, autosomal recessive 3 HP:0010864 PMID:16033914;PMID:14569116 PCS 20/20 P HPO:skoehler[2012-10-17];HPO:probinson[2021-06-01];HPO:probinson[2022-06-16] -OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum HP:0007607 OMIM:225040 IEA P HPO:iea[2009-02-17] -OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum HP:0000924 OMIM:225040 IEA P HPO:iea[2009-02-17] -OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum HP:0001274 OMIM:225040 IEA P HPO:iea[2009-02-17] -OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum HP:0001939 OMIM:225040 IEA P HPO:iea[2009-02-17] -OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum HP:0000832 OMIM:225040 IEA P HPO:iea[2009-02-17] -OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum HP:0001417 OMIM:225040 TAS I HPO:nvasilevsky[2019-03-07] -OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum HP:0001466 OMIM:225040 TAS I HPO:nvasilevsky[2019-03-07] -OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum HP:0006887 OMIM:225040 IEA P HPO:iea[2009-02-17] -OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum HP:0000853 OMIM:225040 IEA P HPO:skoehler[2018-10-08] -OMIM:225040 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum HP:0010864 OMIM:225040 TAS P HPO:skoehler[2012-10-17] OMIM:615374 Cone-Rod dystrophy 18 HP:0003621 PMID:23746546 PCS 3/4 C HPO:probinson[2023-03-29] OMIM:615374 Cone-Rod dystrophy 18 HP:0025010 PMID:23746546 PCS 1/5 P HPO:skoehler[2017-07-13];HPO:probinson[2023-03-29] OMIM:615374 Cone-Rod dystrophy 18 HP:0011463 PMID:23746546 PCS 1/4 C HPO:probinson[2023-03-29] @@ -114138,21 +115362,26 @@ OMIM:600989 Infundibulopelvic dysgenesis HP:0002907 OMIM:600989 IEA P HPO:i OMIM:600989 Infundibulopelvic dysgenesis HP:0000003 OMIM:600989 IEA P HPO:iea[2009-02-17] OMIM:600989 Infundibulopelvic dysgenesis HP:0000006 OMIM:600989 IEA I HPO:iea[2009-02-17] OMIM:600989 Infundibulopelvic dysgenesis HP:0002027 OMIM:600989 IEA P HPO:iea[2009-02-17] -OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003621 OMIM:610542 IEA C HPO:skoehler[2010-06-19] +OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0030502 PMID:30635494 PCS 2/4 P HPO:probinson[2023-06-10] +OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003621 PMID:30635494 PCS 1/4 C HPO:skoehler[2010-06-19];HPO:probinson[2023-06-10] OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0010628 OMIM:610542 TAS P HPO:skoehler[2012-10-17] +OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003200 PMID:30635494 PCS 2/2 P HPO:probinson[2023-06-10] OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003388 OMIM:610542 IEA P HPO:skoehler[2010-06-19] OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003473 OMIM:610542 IEA P HPO:skoehler[2010-06-19] OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003394 OMIM:610542 IEA P HPO:skoehler[2010-06-19] -OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0001270 OMIM:610542 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0001270 PMID:30635494 PCS 4/4 P HPO:skoehler[2012-11-18];HPO:probinson[2023-06-10] OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003391 OMIM:610542 IEA P HPO:skoehler[2010-06-19] OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0008180 OMIM:610542 IEA P HPO:skoehler[2010-06-19] +OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0011463 PMID:30635494 PCS 1/4 C HPO:probinson[2023-06-10] OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0000508 OMIM:610542 IEA P HPO:skoehler[2010-06-20] -OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0000007 OMIM:610542 IEA I HPO:skoehler[2010-06-19] -OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0002515 OMIM:610542 IEA P HPO:skoehler[2010-06-19] +OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0000007 PMID:21310273 PCS I HPO:skoehler[2010-06-19];HPO:probinson[2023-06-10] +OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0002515 PMID:30635494 PCS 2/4 P HPO:skoehler[2010-06-19];HPO:probinson[2023-06-10] OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0007126 OMIM:610542 TAS P HPO:skoehler[2012-10-17] +OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003701 PMID:30635494 PCS 4/4 P HPO:probinson[2023-06-10] OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0000597 OMIM:610542 IEA P HPO:skoehler[2010-06-20] -OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003403 OMIM:610542 IEA P HPO:skoehler[2010-06-19] +OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003623 PMID:30635494 PCS 2/4 C HPO:probinson[2023-06-10] OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0000467 OMIM:610542 TAS P HPO:skoehler[2012-10-17] +OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1 HP:0003403 PMID:30635494 PCS 2/2 P HPO:skoehler[2010-06-19];HPO:probinson[2023-06-10] OMIM:148200 Keratoendotheliitis fugax hereditaria HP:0030953 PMID:29366613 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-09-26] OMIM:148200 Keratoendotheliitis fugax hereditaria HP:0009926 OMIM:148200 IEA P HPO:skoehler[2018-10-08] OMIM:148200 Keratoendotheliitis fugax hereditaria HP:0003621 PMID:29366613 PCS 29/33 C HPO:skoehler[2009-02-17];HPO:probinson[2022-09-26] @@ -114516,6 +115745,7 @@ OMIM:300983 Mental retardation, X-linked 104 HP:0002120 PMID:29267967 PCS 2/10 OMIM:300983 Mental retardation, X-linked 104 HP:0003593 PMID:29267967 PCS C HPO:skoehler[2019-02-22];HPO:probinson[2021-09-27] OMIM:300983 Mental retardation, X-linked 104 HP:0001251 PMID:29267967 PCS 2/4 P HPO:skoehler[2019-02-22];HPO:probinson[2021-09-27] OMIM:300983 Mental retardation, X-linked 104 HP:0000639 PMID:29267967 PCS 2/9 P HPO:skoehler[2019-02-22];HPO:probinson[2021-09-27] +OMIM:300983 Mental retardation, X-linked 104 HP:0000817 PMID:29267967 PCS 2/9 P HPO:skoehler[2019-02-22];HPO:probinson[2021-09-27] OMIM:300983 Mental retardation, X-linked 104 HP:0000718 PMID:29267967 PCS 3/7 P HPO:skoehler[2019-02-22];HPO:probinson[2021-09-27] OMIM:300983 Mental retardation, X-linked 104 HP:0000218 PMID:29267967 PCS 1/8 P HPO:skoehler[2019-04-18];HPO:probinson[2021-09-27] OMIM:300983 Mental retardation, X-linked 104 HP:0000752 PMID:29267967 PCS 3/7 P HPO:skoehler[2019-02-22];HPO:probinson[2021-09-27] @@ -115044,6 +116274,7 @@ OMIM:156200 Mental retardation, autosomal dominant 1 HP:0002162 PMID:18812405 P OMIM:156200 Mental retardation, autosomal dominant 1 HP:0001270 PMID:18812405 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2022-05-22] OMIM:156200 Mental retardation, autosomal dominant 1 HP:0010306 PMID:18812405 PCS 1/2 P HPO:probinson[2022-05-22] OMIM:156200 Mental retardation, autosomal dominant 1 HP:0010864 PMID:17847001 PCS 1/1 P HPO:probinson[2022-05-22] +OMIM:156200 Mental retardation, autosomal dominant 1 HP:0000817 PMID:18812405 PCS 1/2 P HPO:probinson[2022-05-22] OMIM:156200 Mental retardation, autosomal dominant 1 HP:0008551 OMIM:156200 TAS P HPO:skoehler[2012-11-18] OMIM:156200 Mental retardation, autosomal dominant 1 HP:0000739 PMID:18812405 PCS 1/2 P HPO:probinson[2022-05-22] OMIM:156200 Mental retardation, autosomal dominant 1 HP:0000414 OMIM:156200 TAS P HPO:skoehler[2012-11-18] @@ -115667,6 +116898,7 @@ OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine re OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency HP:0000007 PMID:15496425 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2023-03-22] OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency HP:0001319 OMIM:616325 TAS P HPO:skoehler[2015-12-30] OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency HP:0003403 PMID:15496425 PCS 1/1 P HPO:probinson[2023-03-22] +OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency HP:0001611 PMID:15496425 PCS 1/1 P HPO:probinson[2023-03-22] OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency HP:0000467 OMIM:616325 TAS P HPO:skoehler[2015-05-31] OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency HP:0003623 PMID:15496425 PCS 1/1 C HPO:probinson[2023-03-22] OMIM:255160 Myopathy, myosin storage, autosomal recessive HP:0003697 OMIM:255160 IEA P HPO:iea[2009-02-17] @@ -115998,19 +117230,6 @@ OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger) HP:0006887 OMIM:21410 OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger) HP:0000347 PMID:33708531 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2022-03-12] OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger) HP:0002126 OMIM:214100 IEA P HPO:iea[2009-02-17] OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger) HP:0002643 PMID:33708531 PCS 1/1 P HPO:probinson[2022-03-12] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0009816 OMIM:127200 IEA P HPO:iea[2009-02-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0003510 OMIM:127200 IEA P HPO:skoehler[2015-01-21] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0000541 OMIM:127200 IEA P HPO:iea[2009-02-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0000540 OMIM:127200 IEA P HPO:iea[2009-02-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0001387 OMIM:127200 IEA P HPO:iea[2009-02-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0001072 OMIM:127200 TAS P HPO:probinson[2009-02-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0000518 OMIM:127200 IEA P HPO:iea[2009-02-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0006385 OMIM:127200 TAS P HPO:skoehler[2012-10-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0008873 OMIM:127200 IEA P HPO:iea[2009-02-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0000006 OMIM:127200 IEA I HPO:iea[2009-02-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0000501 OMIM:127200 IEA P HPO:iea[2009-02-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0001216 OMIM:127200 IEA P HPO:iea[2009-02-17] -OMIM:127200 Dwarfism with stiff joints and ocular abnormalities HP:0009803 OMIM:127200 IEA P HPO:iea[2009-02-17] OMIM:601088 Ayme-Gripp syndrome HP:0000164 PMID:30160832 PCS 6/15 P HPO:skoehler[2015-06-22];HP:probinson[2019-01-20] OMIM:601088 Ayme-Gripp syndrome HP:0000582 OMIM:601088 TAS HP:0040283 P HPO:skoehler[2015-06-22] OMIM:601088 Ayme-Gripp syndrome HP:0000343 PMID:30160832 PCS 11/15 P HPO:probinson[2012-05-01];HP:probinson[2019-01-20] @@ -116313,6 +117532,7 @@ OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18 HP:0003593 PMID OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18 HP:0002490 PMID:19463981 PCS 1/1 P HPO:probinson[2022-11-24] OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18 HP:0032794 PMID:19463981 PCS 1/5 P HPO:probinson[2022-11-24] OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18 HP:0011923 PMID:19463981 PCS 5/5 P HPO:probinson[2022-11-24] +OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18 HP:0000817 PMID:19463981 PCS 1/5 P HPO:skoehler[2019-02-15];HPO:probinson[2022-11-24] OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18 HP:0000007 PMID:19463981 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2022-11-24] OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18 HP:0002878 PMID:19463981 PCS 2/5 P HPO:skoehler[2019-02-15];HPO:probinson[2022-11-24] OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18 HP:0001522 PMID:19463981 PCS 5/5 C HPO:skoehler[2019-02-15];HPO:probinson[2022-11-24] @@ -116733,6 +117953,7 @@ OMIM:614877 Peroxisome biogenesis disorder 8B HP:0002505 PMID:20647552 PCS 2/4 OMIM:614877 Peroxisome biogenesis disorder 8B HP:0001257 PMID:20647552 PCS 2/4 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-01] OMIM:614877 Peroxisome biogenesis disorder 8B HP:0000666 PMID:20647552 PCS 1/4 P HPO:probinson[2022-11-01] OMIM:614877 Peroxisome biogenesis disorder 8B HP:0002500 PMID:20647552 PCS 1/4 P HPO:probinson[2022-11-01] +OMIM:162210 Neurofibromatosis, familial spinal HP:0001067 PMID:9529361 PCS 1/5 P HPO:probinson[2022-03-15] OMIM:162210 Neurofibromatosis, familial spinal HP:0003596 PMID:11704931 PCS 1/3 C HPO:probinson[2022-03-15] OMIM:162210 Neurofibromatosis, familial spinal HP:0000957 PMID:11704931;PMID:9529361 PCS 5/8 P HPO:iea[2009-02-17];HPO:probinson[2022-03-15];HPO:probinson[2022-03-15] OMIM:162210 Neurofibromatosis, familial spinal HP:0001480 PMID:11704931 PCS 0/3 P HPO:skoehler[2010-06-20];HPO:probinson[2022-03-15] @@ -116741,6 +117962,7 @@ OMIM:162210 Neurofibromatosis, familial spinal HP:0007340 OMIM:162210 TAS P OMIM:162210 Neurofibromatosis, familial spinal HP:0011462 PMID:11704931 PCS 2/3 C HPO:probinson[2022-03-15];HPO:probinson[2022-03-15] OMIM:162210 Neurofibromatosis, familial spinal HP:0006851 OMIM:162210 IEA P HPO:iea[2009-02-17] OMIM:162210 Neurofibromatosis, familial spinal HP:0009732 PMID:9529361 PCS 1/5 P HPO:probinson[2022-03-15] +OMIM:162210 Neurofibromatosis, familial spinal HP:0009735 PMID:11704931;PMID:9529361 PCS 8/8 P HPO:probinson[2022-03-15] OMIM:162210 Neurofibromatosis, familial spinal HP:0000006 PMID:9529361 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-03-15] OMIM:162210 Neurofibromatosis, familial spinal HP:0009737 PMID:11704931;PMID:9529361 PCS 2/5 P HPO:skoehler[2010-06-20];HPO:probinson[2022-03-15];HPO:probinson[2022-03-15] OMIM:600802 Scid, autosomal recessive, T-Negative/b-Positive type HP:0001287 OMIM:600802 TAS P HPO:skoehler[2012-10-16] @@ -116943,28 +118165,30 @@ OMIM:126320 Distichiasis with congenital anomalies of the heart and peripheral OMIM:126320 Distichiasis with congenital anomalies of the heart and peripheral HP:0001643 OMIM:126320 PCS P HPO:probinson[2012-04-11] OMIM:126320 Distichiasis with congenital anomalies of the heart and peripheral HP:0000006 OMIM:126320 PCS I HPO:probinson[2012-04-11] OMIM:126320 Distichiasis with congenital anomalies of the heart and peripheral HP:0001688 OMIM:126320 PCS P HPO:probinson[2012-04-11] -OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0000253 PMID:31300657 PCS HP:0003593 4/28 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0002069 PMID:31300657 PCS 7/28 P HPO:probinson[2020-08-11] +OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0002540 PMID:31300657 PCS 4/22 P HPO:probinson[2020-08-11] +OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0001332 PMID:31300657 PCS 1/22 P HPO:probinson[2020-08-11] +OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0001272 PMID:31300657 PCS 6/23 P HPO:probinson[2020-08-11] +OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0002066 PMID:31300657 PCS 1/22 P HPO:probinson[2020-08-11] +OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0020221 PMID:31300657 PCS 3/28 P HPO:probinson[2020-08-11] +OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0000733 PMID:31300657 PCS 2/22 P HPO:probinson[2020-08-11] +OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0012171 PMID:31300657 PCS P HPO:probinson[2020-08-11] +OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0001249 PMID:31300657 PCS 28/28 P HPO:probinson[2020-08-11] +OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0000253 PMID:31300657 PCS HP:0003593 4/28 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0002059 PMID:31300657 PCS 4/23 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0001344 PMID:31300657 PCS 14/25 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0000750 PMID:31300657 PCS 11/25 P HPO:probinson[2020-08-11] -OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0002540 PMID:31300657 PCS 4/22 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0001762 PMID:31300657 PCS HP:0003577 1/22 P HPO:probinson[2020-08-11] -OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0001332 PMID:31300657 PCS 1/22 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0002373 PMID:31300657 PCS 1/28 P HPO:probinson[2020-08-11] -OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0001272 PMID:31300657 PCS 6/23 P HPO:probinson[2020-08-11] -OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0002066 PMID:31300657 PCS 1/22 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0001263 PMID:31300657 PCS 28/28 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0002072 PMID:31300657 PCS 1/22 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0032792 PMID:31300657 PCS 1/28 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0000729 PMID:31300657 PCS 17/22 P HPO:probinson[2020-08-11] -OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0020221 PMID:31300657 PCS 3/28 P HPO:probinson[2020-08-11] +OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0000722 PMID:31300657 PCS 2/22 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0100716 PMID:31300657 PCS 1/22 P HPO:probinson[2020-08-11] -OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0012171 PMID:31300657 PCS P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0007359 PMID:31300657 PCS 8/28 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0001257 PMID:31300657 PCS 1/22 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0000006 PMID:31300657 PCS I HPO:probinson[2020-08-11];HPO:probinson[2020-08-11] -OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0001249 PMID:31300657 PCS 28/28 P HPO:probinson[2020-08-11] OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities HP:0000028 PMID:31300657 PCS 1/15 MALE P HPO:probinson[2020-08-11] OMIM:616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay HP:0000121 PMID:23553769 PCS 3/7 P HPO:skoehler[2014-11-26];HPO:probinson[2020-11-03] OMIM:616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay HP:0002188 PMID:23553769 PCS 1/12 P HPO:probinson[2020-11-03] @@ -117106,6 +118330,34 @@ OMIM:301069 Chromosome Xq13 duplication syndrome HP:0007018 PMID:33159883 PCS OMIM:301069 Chromosome Xq13 duplication syndrome HP:0000303 PMID:33159883 PCS 1/13 P HPO:probinson[2022-05-07] OMIM:301069 Chromosome Xq13 duplication syndrome HP:0000006 PMID:33159883 PCS I HPO:probinson[2022-05-07] OMIM:301069 Chromosome Xq13 duplication syndrome HP:0005338 PMID:33159883 PCS 1/13 P HPO:probinson[2022-05-07] +OMIM:620244 Lymphatic malformation 13 HP:0000343 PMID:30055085 PCS 2/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0006528 PMID:33569873 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0030674 PMID:26036949 PCS 10/10 C HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001195 PMID:33569873 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001790 PMID:26036949 PCS HP:0030674 10/10 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001790 PMID:30055085 PCS 5/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0000280 PMID:33569873 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0000319 PMID:30055085 PCS 2/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0011220 PMID:30055085 PCS 2/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0000316 PMID:30055085;PMID:33569873 PCS 3/6 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0500049 PMID:33569873 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001643 PMID:30055085;PMID:33569873 PCS 2/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0009900 PMID:33569873 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001004 PMID:30055085 PCS 0/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001048 PMID:33569873 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001028 PMID:30055085 PCS 4/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0025671 PMID:30055085 PCS 0/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001541 PMID:30055085 PCS 5/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0000034 PMID:30055085 PCS 3/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0025676 PMID:30055085 PCS 4/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0002092 PMID:33569873 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0005280 PMID:30055085 PCS 2/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0034198 PMID:30055085;PMID:33569873 PCS 4/4 C HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0000007 PMID:26036949 PCS I HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0003811 PMID:30055085 PCS 1/5 C HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001631 PMID:30055085;PMID:33569873 PCS 3/5 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001653 PMID:30055085 PCS 2/4 P HPO:probinson[2023-06-16] +OMIM:620244 Lymphatic malformation 13 HP:0001655 PMID:30055085 PCS 2/4 P HPO:probinson[2023-06-16] OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness HP:0003577 PMID:31630791 PCS 3/3 C HPO:probinson[2022-08-28] OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness HP:0000563 OMIM:242150 IEA P HPO:iea[2009-02-17] OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness HP:0001596 OMIM:242150 IEA P HPO:iea[2009-02-17] @@ -117543,6 +118795,7 @@ OMIM:605013 MICROHYDRANENCEPHALY HP:0004322 OMIM:605013 IEA P HPO:iea[2009- OMIM:605013 MICROHYDRANENCEPHALY HP:0001274 PMID:22526350 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2022-08-07] OMIM:605013 MICROHYDRANENCEPHALY HP:0010541 PMID:22526350 PCS 2/2 P HPO:probinson[2022-08-07] OMIM:605013 MICROHYDRANENCEPHALY HP:0010864 PMID:22526350 PCS 2/2 P HPO:skoehler[2012-10-17];HPO:probinson[2022-08-07] +OMIM:605013 MICROHYDRANENCEPHALY HP:0000817 PMID:22526350 PCS 2/2 P HPO:probinson[2022-08-07] OMIM:605013 MICROHYDRANENCEPHALY HP:0002119 PMID:22526350 PCS 2/2 P HPO:skoehler[2014-04-13];HPO:probinson[2022-08-07] OMIM:605013 MICROHYDRANENCEPHALY HP:0001302 OMIM:605013 TAS P HPO:skoehler[2014-04-13] OMIM:605013 MICROHYDRANENCEPHALY HP:0001347 PMID:22526350 PCS 2/2 P HPO:skoehler[2014-04-13];HPO:probinson[2022-08-07] @@ -117778,6 +119031,7 @@ OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent sp OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia HP:0001270 PMID:31668703 PCS HP:0003593 16/16 P HPO:probinson[2020-05-11] OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia HP:0012444 PMID:31668703 PCS 4/8 HP:0012825 P HPO:probinson[2020-05-11];HPO:probinson[2020-05-11] OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia HP:0000639 PMID:31668703 PCS 1/16 P HPO:probinson[2020-05-11] +OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia HP:0000733 PMID:31668703 PCS P HPO:probinson[2020-05-11] OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia HP:0002714 PMID:31668703 PCS 2/16 P HPO:probinson[2020-05-11] OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia HP:0000752 PMID:31668703 PCS 7/16 P HPO:probinson[2020-05-11] OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia HP:0001324 PMID:31668703 PCS 9/16 P HPO:probinson[2020-05-11] @@ -118146,6 +119400,7 @@ OMIM:616737 Takenouchi-Kosaki syndrome HP:0000154 OMIM:616737 IEA P HPO:sko OMIM:616737 Takenouchi-Kosaki syndrome HP:0000431 OMIM:616737 IEA P HPO:skoehler[2018-10-08] OMIM:616737 Takenouchi-Kosaki syndrome HP:0002650 OMIM:616737 IEA P HPO:skoehler[2019-04-18] OMIM:616737 Takenouchi-Kosaki syndrome HP:0001321 OMIM:616737 IEA P HPO:skoehler[2018-10-08] +OMIM:616737 Takenouchi-Kosaki syndrome HP:0000708 OMIM:616737 IEA P HPO:skoehler[2018-10-08] OMIM:616737 Takenouchi-Kosaki syndrome HP:0000508 PMID:26708094 IEA 2/2 HP:0012825 P HPO:probinson[2017-05-28] OMIM:616737 Takenouchi-Kosaki syndrome HP:0001999 OMIM:616737 IEA P HPO:skoehler[2018-10-08] OMIM:616737 Takenouchi-Kosaki syndrome HP:0007655 PMID:26708094 PCS 2/2 P HPO:probinson[2017-05-28] @@ -118426,6 +119681,32 @@ OMIM:601277 Ichthyosis, congenital, autosomal recessive 4A HP:0000982 PMID:1291 OMIM:601277 Ichthyosis, congenital, autosomal recessive 4A HP:0001820 PMID:12915478 PCS 1/15 P HPO:skoehler[2013-01-21];HPO:probinson[2022-03-11] OMIM:120790 Complement component 4, partial deficiency of HP:0002725 OMIM:120790 IEA P HPO:iea[2009-02-17] OMIM:120790 Complement component 4, partial deficiency of HP:0000006 OMIM:120790 IEA I HPO:iea[2009-02-17] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0000483 PMID:36368327 PCS 6/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0000486 PMID:36368327 PCS 4/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0000540 PMID:36368327 PCS 1/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0001250 PMID:36368327 PCS 3/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0001252 PMID:36368327 PCS 6/6 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0002020 PMID:36368327 PCS 1/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0003593 PMID:36368327 PCS 7/7 C HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0002061 PMID:36368327 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0000639 PMID:36368327 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0012450 PMID:36368327 PCS 3/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0000733 PMID:36368327 PCS 5/5 P HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0000337 PMID:36368327 PCS 5/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0000612 PMID:36368327 PCS HP:0003577 1/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0008897 PMID:36368327 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0001423 PMID:36368327 PCS I HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0001249 PMID:36368327 PCS 7/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0000750 PMID:36368327 PCS 7/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0002376 PMID:36368327 PCS 2/8 P HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0001288 PMID:36368327 PCS 6/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0001263 PMID:36368327 PCS 7/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0011448 PMID:36368327 PCS 1/7 P HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0011471 PMID:36368327 PCS 1/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0000729 PMID:36368327 PCS 4/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0002904 PMID:36368327 PCS HP:0003623 2/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0002205 PMID:36368327 PCS 2/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] +OMIM:301094 Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked HP:0410018 PMID:36368327 PCS 3/7 P HPO:probinson[2023-06-11];HPO:probinson[2023-06-11] OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB HP:0001265 OMIM:613115 IEA P HPO:skoehler[2010-06-19] OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB HP:0003477 OMIM:613115 IEA P HPO:skoehler[2010-06-20] OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB HP:0003621 OMIM:613115 IEA C HPO:skoehler[2010-06-19] @@ -118439,6 +119720,10 @@ OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB HP:0006121 O OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB HP:0000007 OMIM:613115 IEA I HPO:skoehler[2010-06-19] OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB HP:0001257 OMIM:613115 IEA P HPO:skoehler[2010-06-20] OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB HP:0002754 OMIM:613115 IEA P HPO:skoehler[2010-06-19] +OMIM:614849 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 HP:0006846 PMID:20832341 PCS 1/1 P HPO:probinson[2023-06-12] +OMIM:614849 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 HP:0011463 PMID:20832341 PCS 1/1 C HPO:probinson[2023-06-12];HPO:probinson[2023-06-12] +OMIM:614849 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 HP:0012302 PMID:20832341 PCS HP:0011463 1/1 P HPO:probinson[2023-06-12] +OMIM:614849 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 HP:0000006 PMID:20832341 PCS I HPO:probinson[2023-06-12] OMIM:210600 Seckel syndrome 1 HP:0000486 OMIM:210600 IEA P HPO:iea[2009-02-17] OMIM:210600 Seckel syndrome 1 HP:0001250 OMIM:210600 IEA P HPO:iea[2009-02-17] OMIM:210600 Seckel syndrome 1 HP:0001090 OMIM:210600 IEA P HPO:skoehler[2010-06-20] @@ -118600,6 +119885,24 @@ OMIM:607821 Deafness, autosomal recessive 37 HP:0000407 PMID:12687499 PCS HP:00 OMIM:607821 Deafness, autosomal recessive 37 HP:0000007 PMID:12687499 PCS I HPO:probinson[2013-01-09];HPO:probinson[2022-09-25] OMIM:607821 Deafness, autosomal recessive 37 HP:0007642 PMID:12687499 PCS 1/6 P HPO:skoehler[2015-09-11];HPO:probinson[2022-09-25] OMIM:607821 Deafness, autosomal recessive 37 HP:0000510 PMID:12687499 PCS 1/6 P HPO:skoehler[2015-09-11];HPO:probinson[2022-09-25] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0003236 PMID:28012042 PCS 2/11 P HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0003687 PMID:28012042 PCS 2/9 P HPO:probinson[2023-06-12];HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0002650 PMID:28012042 PCS 5/11 P HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0030674 PMID:28012042 PCS 3/11 C HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0011968 PMID:28012042 PCS 8/11 P HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0001252 PMID:28012042 PCS 11/11 P HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0003593 PMID:28012042 PCS 1/11 C HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0012548 PMID:28012042 PCS 3/11 P HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0001270 PMID:28012042 PCS 11/11 P HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0100297 PMID:28012042 PCS 4/9 P HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0011463 PMID:28012042 PCS 3/11 C HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0000602 PMID:28012042 PCS 4/11 P HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0000007 PMID:28012042 PCS I HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0000218 PMID:28012042 PCS 11/11 P HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0003327 PMID:28012042 PCS 11/11 P HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0000006 PMID:28012042 PCS I HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0003623 PMID:28012042 PCS 4/11 C HPO:probinson[2023-06-12];HPO:probinson[2023-06-12] +OMIM:620246 Congenital myopathy 18 due to dihydropyridine receptor defect HP:0003557 PMID:28012042 PCS 8/9 P HPO:probinson[2023-06-12] OMIM:310600 Norrie disease HP:0000594 PMID:17325173 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2022-05-06] OMIM:310600 Norrie disease HP:0007759 OMIM:310600 IEA P HPO:iea[2009-02-17] OMIM:310600 Norrie disease HP:0007957 PMID:17325173 PCS 2/2 P HPO:probinson[2022-05-06] @@ -118805,6 +120108,7 @@ OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome HP:0002162 PMID:31585109 PCS 1/9 P HPO:probinson[2020-08-12] OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome HP:0001274 PMID:31585109 PCS 7/9 P HPO:probinson[2020-08-12] OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome HP:0010862 PMID:31585109 PCS 2/8 P HPO:probinson[2020-08-12] +OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome HP:0033105 PMID:31585109 PCS 5/9 P HPO:probinson[2020-10-13] OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome HP:0002280 PMID:31585109 PCS 2/9 P HPO:probinson[2020-08-12] OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome HP:0000739 PMID:31585109 PCS 2/8 P HPO:probinson[2020-08-12] OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome HP:0000337 PMID:31585109 PCS 2/9 P HPO:probinson[2020-08-12] @@ -119342,6 +120646,7 @@ OMIM:617171 Dyskinesia, seizures, and intellectual developmental disorder HP:01 OMIM:617171 Dyskinesia, seizures, and intellectual developmental disorder HP:0000718 PMID:26048982 PCS 3/3 P HPO:skoehler[2017-07-13];HPO:probinson[2023-03-22] OMIM:617171 Dyskinesia, seizures, and intellectual developmental disorder HP:0000712 PMID:26048982 PCS 3/3 P HPO:skoehler[2017-07-13];HPO:probinson[2023-03-22] OMIM:617171 Dyskinesia, seizures, and intellectual developmental disorder HP:0000007 PMID:26048982 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-03-22] +OMIM:617171 Dyskinesia, seizures, and intellectual developmental disorder HP:0000733 PMID:26048982 PCS 3/3 P HPO:probinson[2023-03-22] OMIM:617171 Dyskinesia, seizures, and intellectual developmental disorder HP:0000713 PMID:26048982 PCS 3/3 P HPO:skoehler[2017-07-13];HPO:probinson[2023-03-22] OMIM:617171 Dyskinesia, seizures, and intellectual developmental disorder HP:0002307 PMID:26048982 PCS 3/3 P HPO:probinson[2023-03-22] OMIM:617171 Dyskinesia, seizures, and intellectual developmental disorder HP:0001249 PMID:26048982 PCS 3/3 P HPO:skoehler[2017-07-13];HPO:probinson[2023-03-22] @@ -119605,6 +120910,7 @@ OMIM:617830 Developmental and epileptic encephalopathy 58 HP:0012448 PMID:29100 OMIM:617830 Developmental and epileptic encephalopathy 58 HP:0001290 PMID:29100083 PCS 2/4 P HPO:skoehler[2019-04-18];HPO:probinson[2021-02-18] OMIM:617830 Developmental and epileptic encephalopathy 58 HP:0010864 PMID:29100083 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2021-02-18] OMIM:617830 Developmental and epileptic encephalopathy 58 HP:0000639 PMID:29100083 PCS 2/4 P HPO:skoehler[2018-10-08];HPO:probinson[2021-02-18] +OMIM:617830 Developmental and epileptic encephalopathy 58 HP:0000733 PMID:29100083 PCS 1/4 P HPO:skoehler[2018-10-08];HPO:probinson[2021-02-18] OMIM:617830 Developmental and epileptic encephalopathy 58 HP:0200134 PMID:29100083 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2021-02-18] OMIM:617830 Developmental and epileptic encephalopathy 58 HP:0000648 PMID:29100083 PCS 2/4 P HPO:skoehler[2018-10-08];HPO:probinson[2021-02-18] OMIM:617830 Developmental and epileptic encephalopathy 58 HP:0000505 PMID:29100083 PCS 1/4 P HPO:skoehler[2018-10-08];HPO:probinson[2021-02-18] @@ -119996,6 +121302,7 @@ OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency HP:000 OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency HP:0002156 OMIM:236200 IEA P HPO:iea[2009-02-17] OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency HP:0001263 PMID:20301697 IEA P HP:probinson[2019-03-02] OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency HP:0001083 PMID:9775245;PMID:11641642 PCS 15/33 P HPO:iea[2009-02-17];HP:probinson[2019-03-02];HP:probinson[2019-03-02];HP:probinson[2019-03-02] +OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency HP:0000708 OMIM:236200 IEA P HPO:iea[2009-02-17] OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency HP:0001519 PMID:20301697 PCS P HPO:skoehler[2012-10-17];HP:probinson[2019-03-02] OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency HP:0032352 OMIM:236200 IEA P HPO:skoehler[2019-04-18] OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency HP:0000965 OMIM:236200 TAS P HPO:skoehler[2012-10-17] @@ -120397,6 +121704,7 @@ OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:00002 OMIM:617788 Mental retardation, autosomal dominant 51 HP:0003593 PMID:28191889 PCS C HPO:probinson[2022-06-03] OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0032895 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0012741 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] +OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:4000070 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0100033 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0001508 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0000718 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] @@ -120418,6 +121726,7 @@ OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:00313 OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0012810 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0100023 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0012520 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] +OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:4000076 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0000729 PMID:28191889 PCS 5/7 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-03] OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0000403 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] OMIM:617788 Intellectual developmental disorder, autosomal dominant 51 HP:0001833 PMID:28191889 PCS 1/7 P HPO:probinson[2022-06-03] @@ -120562,6 +121871,7 @@ OMIM:619941 Carey-Fineman-Ziter syndrome 2 HP:0000007 PMID:35642635 PCS I H OMIM:619941 Carey-Fineman-Ziter syndrome 2 HP:0002705 PMID:35642635 PCS 2/2 P HPO:probinson[2022-08-04] OMIM:619941 Carey-Fineman-Ziter syndrome 2 HP:0000347 PMID:35642635 PCS 2/2 P HPO:probinson[2022-08-04] OMIM:619941 Carey-Fineman-Ziter syndrome 2 HP:0000369 PMID:35642635 PCS 1/2 P HPO:probinson[2022-08-04] +OMIM:619941 Carey-Fineman-Ziter syndrome 2 HP:0001611 PMID:35642635 PCS 1/2 P HPO:probinson[2022-08-04] OMIM:218670 Craniotelencephalic dysplasia HP:0001331 OMIM:218670 IEA P HPO:iea[2009-02-17] OMIM:218670 Craniotelencephalic dysplasia HP:0000384 OMIM:218670 IEA P HPO:iea[2009-02-17] OMIM:218670 Craniotelencephalic dysplasia HP:0001363 OMIM:218670 IEA P HPO:iea[2009-02-17] @@ -121154,6 +122464,7 @@ OMIM:261600 Phenylketonuria HP:0000709 OMIM:261600 TAS P HPO:skoehler[2012- OMIM:261600 Phenylketonuria HP:0100610 OMIM:261600 TAS P HPO:skoehler[2012-11-20] OMIM:261600 Phenylketonuria HP:0000007 OMIM:261600 IEA I HPO:iea[2009-02-17] OMIM:261600 Phenylketonuria HP:0000964 OMIM:261600 IEA P HPO:iea[2009-02-17] +OMIM:261600 Phenylketonuria HP:0000722 OMIM:261600 TAS P HPO:skoehler[2012-10-17] OMIM:261600 Phenylketonuria HP:0004923 OMIM:261600 PCS P HPO:iea[2009-02-17] OMIM:261600 Phenylketonuria HP:0007018 OMIM:261600 TAS P HPO:skoehler[2012-11-20] OMIM:261600 Phenylketonuria HP:0007513 OMIM:261600 IEA P HPO:iea[2009-02-17] @@ -121942,6 +123253,7 @@ OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia HP:00107 OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia HP:0009760 OMIM:609945 TAS P HPO:iea[2009-02-17] OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia HP:0007385 OMIM:609945 IEA P HPO:iea[2009-02-17] OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia HP:0000218 OMIM:609945 IEA P HPO:iea[2009-02-17] +OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia HP:0008830 OMIM:609945 IEA P HPO:iea[2009-02-17] OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia HP:0000378 OMIM:609945 IEA P HPO:iea[2009-02-17] OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia HP:0000894 OMIM:609945 IEA P HPO:iea[2009-02-17] OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia HP:0009803 OMIM:609945 IEA P HPO:iea[2009-02-17] @@ -122157,6 +123469,7 @@ OMIM:304700 Mohr-Tranebjaerg syndrome HP:0002015 OMIM:304700 IEA P HPO:iea[ OMIM:304700 Mohr-Tranebjaerg syndrome HP:0001256 PMID:10878669 PCS 1/1 P HPO:probinson[2022-12-14];HPO:probinson[2022-12-14] OMIM:304700 Mohr-Tranebjaerg syndrome HP:0001332 PMID:10878669 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2022-12-14] OMIM:304700 Mohr-Tranebjaerg syndrome HP:0001260 OMIM:304700 IEA P HPO:iea[2009-02-17] +OMIM:304700 Mohr-Tranebjaerg syndrome HP:0000708 OMIM:304700 IEA P HPO:iea[2009-02-17] OMIM:304700 Mohr-Tranebjaerg syndrome HP:0000408 OMIM:304700 PCS P HPO:probinson[2012-03-30] OMIM:304700 Mohr-Tranebjaerg syndrome HP:0100704 OMIM:304700 PCS P HPO:probinson[2012-03-30] OMIM:304700 Mohr-Tranebjaerg syndrome HP:0011463 PMID:10878669 PCS 1/1 C HPO:probinson[2012-03-30];HPO:probinson[2022-12-14] @@ -122341,53 +123654,54 @@ OMIM:617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodys OMIM:617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy HP:0002599 PMID:28575651 PCS P HPO:skoehler[2019-04-18];HPO:probinson[2022-03-07] OMIM:617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy HP:0001347 PMID:28575651 PCS P HPO:skoehler[2019-04-18];HPO:probinson[2022-03-07] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000286 PMID:31422817 PCS 3/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000341 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002188 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000486 PMID:31422817 PCS 3/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0009916 PMID:31422817 PCS 1/4 HP:0012825 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000540 PMID:31422817 PCS 3/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000023 PMID:31422817 PCS P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001195 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001252 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0100694 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002719 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000319 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000316 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001845 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000218 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002558 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001249 PMID:31422817 IEA 4/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001545 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002355 PMID:31422817 PCS 3/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002553 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0008936 PMID:31422817 PCS 1/4 HP:0012825 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001562 PMID:31422817 PCS HP:0011461 1/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000396 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000252 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000054 PMID:31422817 PCS 1/2 MALE P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000076 PMID:31422817 PCS HP:0003577 1/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000992 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000750 PMID:31422817 PCS 4/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0030148 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002650 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002079 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0011968 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000270 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001263 PMID:31422817 PCS 4/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0004691 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0045025 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0031014 PMID:31422817 PCS 1/3 P HPO:probinson[2020-07-17];HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001182 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0004409 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0005616 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002007 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000125 PMID:31422817 PCS 1/4 HP:0012833 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000028 PMID:31422817 PCS 1/2 MALE P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000369 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] -OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001513 PMID:31422817 PCS 2/4 HP:0012825 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000006 PMID:31422817 PCS I HPO:probinson[2020-12-01] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000126 PMID:31422817 PCS HP:0003577 1/4 P HPO:probinson[2020-07-17] OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001655 PMID:31422817 PCS 2/3 P HPO:probinson[2020-07-17];HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000341 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0009916 PMID:31422817 PCS 1/4 HP:0012825 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000540 PMID:31422817 PCS 3/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000023 PMID:31422817 PCS P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001195 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002719 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000733 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000218 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002558 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001545 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0008936 PMID:31422817 PCS 1/4 HP:0012825 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001562 PMID:31422817 PCS HP:0011461 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000396 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000076 PMID:31422817 PCS HP:0003577 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000992 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000750 PMID:31422817 PCS 4/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002650 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000270 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0045025 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0031014 PMID:31422817 PCS 1/3 P HPO:probinson[2020-07-17];HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0002007 PMID:31422817 PCS 1/4 P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000028 PMID:31422817 PCS 1/2 MALE P HPO:probinson[2020-07-17] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0001513 PMID:31422817 PCS 2/4 HP:0012825 P HPO:probinson[2020-07-17] OMIM:615377 Atrial fibrillation, familial, 13 HP:0001650 PMID:19808477 PCS 1/2 P HPO:skoehler[2015-06-22];HPO:probinson[2022-07-10] OMIM:615377 Atrial fibrillation, familial, 13 HP:0003596 PMID:19808477 PCS 2/2 C HPO:probinson[2022-07-10] OMIM:615377 Atrial fibrillation, familial, 13 HP:0031295 PMID:19808477 PCS 1/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-07-10] @@ -123039,6 +124353,7 @@ OMIM:618492 Neurodevelopmental disorder with microcephaly and structural brain a OMIM:618492 Neurodevelopmental disorder with microcephaly and structural brain anomalies HP:0000520 OMIM:618492 IEA P HPO:skoehler[2019-09-07] OMIM:618492 Neurodevelopmental disorder with microcephaly and structural brain anomalies HP:0001257 OMIM:618492 IEA P HPO:skoehler[2019-09-07] OMIM:618492 Neurodevelopmental disorder with microcephaly and structural brain anomalies HP:0009879 PMID:31079899 PCS 3/3 P HPO:probinson[2019-07-07] +OMIM:618492 Neurodevelopmental disorder with microcephaly and structural brain anomalies HP:0001611 OMIM:618492 IEA P HPO:skoehler[2019-09-07] OMIM:300758 Hypospadias 2, X-linked HP:0000808 PMID:17086185 PCS 4/4 P HPO:skoehler[2012-10-17];HPO:probinson[2023-02-20] OMIM:300758 Hypospadias 2, X-linked HP:0003577 PMID:17086185 PCS 4/4 C HPO:probinson[2023-02-20] OMIM:300758 Hypospadias 2, X-linked HP:0001419 PMID:17086185 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2023-02-20] @@ -123216,6 +124531,7 @@ OMIM:615834 Intellectual developmental disorder, autosomal dominant 26 HP:00026 OMIM:615834 Intellectual developmental disorder, autosomal dominant 26 HP:0000431 PMID:23332918;PMID:20635338 PCS 8/22 P HPO:probinson[2022-04-11];HPO:probinson[2022-06-18] OMIM:615834 Intellectual developmental disorder, autosomal dominant 26 HP:0011968 PMID:23332918;PMID:25205402 PCS 12/23 P HPO:probinson[2022-04-11];HPO:skoehler[2015-09-14];HPO:probinson[2022-04-11] OMIM:615834 Intellectual developmental disorder, autosomal dominant 26 HP:0001263 PMID:23332918;PMID:25205402 PCS 22/23 P HPO:skoehler[2017-07-13];HPO:probinson[2022-04-11];HPO:probinson[2022-04-11] +OMIM:615834 Intellectual developmental disorder, autosomal dominant 26 HP:0025112 PMID:23332918;PMID:25205402 PCS 3/10 P HPO:probinson[2022-04-11] OMIM:615834 Intellectual developmental disorder, autosomal dominant 26 HP:0100021 PMID:23332918 PCS 9/21 P HPO:skoehler[2015-09-14];HPO:probinson[2022-04-11] OMIM:615834 Intellectual developmental disorder, autosomal dominant 26 HP:0005280 PMID:25205402 PCS 2/2 P HPO:probinson[2022-04-11] OMIM:615834 Intellectual developmental disorder, autosomal dominant 26 HP:0006184 PMID:25205402 PCS 2/2 P HPO:skoehler[2015-09-14];HPO:probinson[2022-04-11] @@ -123610,6 +124926,7 @@ OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and mi OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia HP:0001250 OMIM:618451 IEA P HPO:skoehler[2019-09-07] OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia HP:0003593 PMID:30915432 PCS 1/1 C HPO:skoehler[2019-09-07] OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia HP:0012448 OMIM:618451 IEA P HPO:skoehler[2019-09-07] +OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia HP:0000817 PMID:30915432 PCS 1/1 P HPO:skoehler[2019-09-07];HPO:probinson[2023-03-05] OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia HP:0001347 PMID:30915432 PCS 1/1 P HPO:skoehler[2019-09-07] OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia HP:0008936 PMID:30915432 PCS 1/1 P HPO:probinson[2023-03-05] OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia HP:0001344 PMID:30915432 PCS 1/1 P HPO:skoehler[2019-09-07] @@ -123751,6 +125068,7 @@ OMIM:300957 Mental retardation, X-linked 12/35 HP:0001388 PMID:32116545 IEA 2/ OMIM:300957 Mental retardation, X-linked 12/35 HP:0001288 PMID:32116545 PCS 18/38 P HPO:skoehler[2015-11-15];HPO:probinson[2020-08-02] OMIM:300957 Mental retardation, X-linked 12/35 HP:0011968 PMID:32116545 IEA 7/38 P HPO:probinson[2020-08-02] OMIM:300957 Mental retardation, X-linked 12/35 HP:0002171 PMID:26166480 PCS 1/6 P HPO:skoehler[2015-12-30];HPO:probinson[2020-08-02] +OMIM:300957 Mental retardation, X-linked 12/35 HP:0000708 PMID:32116545 PCS 15/38 P HPO:probinson[2020-08-02] OMIM:300957 Mental retardation, X-linked 12/35 HP:0001419 PMID:32116545 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2020-08-02] OMIM:300957 Mental retardation, X-linked 12/35 HP:0001518 PMID:32116545 PCS 10/34 P HPO:probinson[2020-08-02] OMIM:300957 Mental retardation, X-linked 12/35 HP:0000407 PMID:32116545 PCS 3/32 P HPO:probinson[2020-08-02] @@ -123811,6 +125129,7 @@ OMIM:607565 Spastic paraplegia, ataxia, and mental retardation HP:0001258 OMIM: OMIM:607565 Spastic paraplegia, ataxia, and mental retardation HP:0000006 OMIM:607565 IEA I HPO:iea[2009-02-17] OMIM:607565 Spastic paraplegia, ataxia, and mental retardation HP:0001249 OMIM:607565 IEA P HPO:iea[2009-02-17] OMIM:607565 Spastic paraplegia, ataxia, and mental retardation HP:0001347 OMIM:607565 IEA P HPO:iea[2009-02-17] +OMIM:114030 Cafe-Au-Lait spots, multiple NOT HP:0001067 PMID:8825931 PCS P HPO:skoehler[2013-05-30] OMIM:114030 Cafe-Au-Lait spots, multiple HP:0007565 PMID:8825931 PCS 10/10 P HPO:probinson[2009-02-17] OMIM:114030 Cafe-Au-Lait spots, multiple HP:0000006 PMID:8825931 PCS I HPO:probinson[2009-02-17] OMIM:114030 Cafe-Au-Lait spots, multiple NOT HP:0009737 PMID:8825931 PCS P HPO:skoehler[2016-12-30] @@ -124017,6 +125336,7 @@ OMIM:614257 Chromosome 20q11-q12 deletion syndrome HP:0011800 PMID:25572454 PCS OMIM:614257 Chromosome 20q11-q12 deletion syndrome HP:0001181 PMID:25572454 PCS 2/11 P HPO:probinson[2021-07-14] OMIM:614257 Chromosome 20q11-q12 deletion syndrome HP:0010864 PMID:21376300 PCS 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2020-09-20] OMIM:614257 Chromosome 20q11-q12 deletion syndrome HP:0012385 PMID:25572454 PCS 4/11 P HPO:probinson[2021-07-14] +OMIM:614257 Chromosome 20q11-q12 deletion syndrome HP:0000708 PMID:25572454 PCS 5/10 P HPO:probinson[2021-07-14] OMIM:614257 Chromosome 20q11-q12 deletion syndrome HP:0000316 PMID:25572454 PCS 4/11 P HPO:probinson[2021-07-14] OMIM:614257 Chromosome 20q11-q12 deletion syndrome HP:0000348 PMID:25572454 PCS 9/11 P HPO:probinson[2021-07-14] OMIM:614257 Chromosome 20q11-q12 deletion syndrome HP:0008872 PMID:25572454 PCS 10/11 P HPO:probinson[2021-07-14] @@ -124389,18 +125709,26 @@ OMIM:619834 Ovarian dysgenesis 10 HP:0010464 PMID:34402903 PCS 1/2 P HPO:pro OMIM:619834 Ovarian dysgenesis 10 HP:0000786 PMID:34402903 PCS 2/2 P HPO:probinson[2022-06-13] OMIM:619834 Ovarian dysgenesis 10 HP:0008724 PMID:34402903 PCS 1/2 P HPO:probinson[2022-06-13] OMIM:616291 Lichtenstein-Knorr syndrome HP:0002345 OMIM:616291 TAS P HPO:skoehler[2015-04-05] -OMIM:616291 Lichtenstein-Knorr syndrome HP:0003676 OMIM:616291 TAS C HPO:skoehler[2015-12-30] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0003676 PMID:25205112 PCS C HPO:skoehler[2015-12-30];HPO:probinson[2023-06-10] OMIM:616291 Lichtenstein-Knorr syndrome HP:0004322 OMIM:616291 TAS HP:0040283 P HPO:skoehler[2015-04-05] -OMIM:616291 Lichtenstein-Knorr syndrome HP:0001310 OMIM:616291 TAS P HPO:skoehler[2015-04-05] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0001310 PMID:25205112 PCS 3/3 P HPO:skoehler[2015-04-05] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0031936 PMID:25205112 PCS 3/3 P HPO:probinson[2023-06-10] OMIM:616291 Lichtenstein-Knorr syndrome HP:0001272 OMIM:616291 TAS HP:0040283 P HPO:skoehler[2015-04-05] OMIM:616291 Lichtenstein-Knorr syndrome HP:0001260 OMIM:616291 TAS P HPO:skoehler[2015-04-05] -OMIM:616291 Lichtenstein-Knorr syndrome HP:0002066 OMIM:616291 TAS P HPO:skoehler[2015-04-05] -OMIM:616291 Lichtenstein-Knorr syndrome HP:0001251 OMIM:616291 TAS P HPO:skoehler[2015-04-05] -OMIM:616291 Lichtenstein-Knorr syndrome HP:0002075 OMIM:616291 TAS P HPO:skoehler[2015-04-05] -OMIM:616291 Lichtenstein-Knorr syndrome HP:0001270 OMIM:616291 TAS P HPO:skoehler[2015-04-05] -OMIM:616291 Lichtenstein-Knorr syndrome HP:0002070 OMIM:616291 TAS P HPO:skoehler[2015-04-05] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0002066 PMID:25205112 PCS 3/3 P HPO:skoehler[2015-04-05] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0001251 PMID:25205112 PCS 3/3 P HPO:skoehler[2015-04-05] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0002075 PMID:25205112 PCS 3/3 P HPO:skoehler[2015-04-05] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0001270 PMID:25205112 PCS 3/3 P HPO:skoehler[2015-04-05];HPO:probinson[2023-06-10] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0002070 PMID:25205112 PCS 3/3 P HPO:skoehler[2015-04-05];HPO:probinson[2023-06-10] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0012046 PMID:25205112 PCS 3/3 P HPO:probinson[2023-06-10] OMIM:616291 Lichtenstein-Knorr syndrome HP:0000639 OMIM:616291 TAS HP:0040283 P HPO:skoehler[2015-04-05] -OMIM:616291 Lichtenstein-Knorr syndrome HP:0000007 OMIM:616291 TAS I HPO:skoehler[2015-12-30] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0011463 PMID:25205112 PCS 3/3 C HPO:probinson[2023-06-10] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0000407 PMID:25205112 PCS 3/3 P HPO:probinson[2023-06-10] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0000957 PMID:25205112 PCS 2/3 P HPO:probinson[2023-06-10] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0000007 PMID:25205112 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2023-06-10] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0001756 PMID:25205112 PCS 1/1 P HPO:probinson[2023-06-10] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0002522 PMID:25205112 PCS 3/3 P HPO:probinson[2023-06-10] +OMIM:616291 Lichtenstein-Knorr syndrome HP:0006855 PMID:25205112 PCS 1/3 P HPO:probinson[2023-06-10] OMIM:212200 CARNOSINEMIA HP:0003167 OMIM:212200 IEA P HPO:iea[2009-02-17] OMIM:212200 CARNOSINEMIA HP:0002123 OMIM:212200 IEA P HPO:iea[2009-02-17] OMIM:212200 CARNOSINEMIA HP:0000007 OMIM:212200 IEA I HPO:iea[2009-02-17] @@ -124425,6 +125753,7 @@ OMIM:612949 Epileptic encephalopathy, early infantile, 39 HP:0012708 PMID:19641 OMIM:612949 Epileptic encephalopathy, early infantile, 39 HP:0011335 PMID:24515575 PCS 1/2 P HPO:probinson[2022-07-19] OMIM:612949 Epileptic encephalopathy, early infantile, 39 HP:0032656 PMID:24515575 PCS 1/2 P HPO:probinson[2022-07-19] OMIM:612949 Epileptic encephalopathy, early infantile, 39 HP:0011261 PMID:24515575 PCS 1/2 P HPO:probinson[2022-07-19] +OMIM:612949 Epileptic encephalopathy, early infantile, 39 HP:0000817 PMID:19641205 PCS 1/1 P HPO:skoehler[2010-06-19];HPO:probinson[2022-07-19] OMIM:612949 Epileptic encephalopathy, early infantile, 39 HP:0000316 PMID:24515575 PCS 1/2 P HPO:probinson[2022-07-19] OMIM:612949 Epileptic encephalopathy, early infantile, 39 HP:0000954 PMID:24515575 PCS 2/2 P HPO:probinson[2022-07-19] OMIM:612949 Epileptic encephalopathy, early infantile, 39 HP:0003803 PMID:24515575 PCS 1/2 P HPO:probinson[2022-07-19] @@ -124951,6 +126280,7 @@ OMIM:222300 Wolfram syndrome 1 HP:0002015 OMIM:222300 IEA P HPO:iea[2009-02 OMIM:222300 Wolfram syndrome 1 HP:0003621 PMID:16151413 PCS 5/10 C HPO:probinson[2022-04-24] OMIM:222300 Wolfram syndrome 1 HP:0001260 OMIM:222300 IEA P HPO:iea[2009-02-17] OMIM:222300 Wolfram syndrome 1 HP:0000072 OMIM:222300 IEA P HPO:iea[2009-02-17] +OMIM:222300 Wolfram syndrome 1 HP:0000708 OMIM:222300 TAS P HPO:skoehler[2012-10-17] OMIM:222300 Wolfram syndrome 1 HP:0000407 PMID:16151413 PCS 6/10 P HPO:iea[2009-02-17];HPO:probinson[2022-04-24] OMIM:222300 Wolfram syndrome 1 HP:0000508 OMIM:222300 IEA P HPO:iea[2009-02-17] OMIM:222300 Wolfram syndrome 1 HP:0000007 OMIM:222300 IEA I HPO:iea[2009-02-17] @@ -124975,39 +126305,51 @@ OMIM:610623 Cataract 11, multiple types HP:0000006 PMID:9620774 PCS I HPO:s OMIM:610623 Cataract 11, multiple types HP:0001315 OMIM:610623 IEA P HPO:skoehler[2019-02-22] OMIM:610623 Cataract 11, multiple types HP:0001249 OMIM:610623 IEA P HPO:skoehler[2019-02-22] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0003577 OMIM:600430 IEA C HPO:iea[2009-02-17] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000582 PMID:20691407 PCS 4/6 P HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0004322 OMIM:600430 IEA P HPO:iea[2009-02-17] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001250 OMIM:600430 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000463 PMID:20691407 PCS 4/6 P HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001250 PMID:20691407 PCS 2/7 P HPO:skoehler[2012-11-18];HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000581 OMIM:600430 TAS P HPO:skoehler[2017-07-13] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000283 OMIM:600430 TAS P HPO:skoehler[2012-10-17] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0002360 PMID:20691407 PCS 3/4 P HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000283 PMID:20691407 PCS 7/7 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0010049 OMIM:600430 IEA P HPO:iea[2009-02-17] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0011675 OMIM:600430 TAS HP:0040283 P HPO:skoehler[2012-11-18] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000280 OMIM:600430 TAS P HPO:skoehler[2017-07-13] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0010743 OMIM:600430 IEA P HPO:iea[2009-02-17] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001270 PMID:20691407 PCS 6/7 P HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0007021 OMIM:600430 TAS P HPO:skoehler[2012-10-17] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000718 OMIM:600430 TAS P HPO:skoehler[2012-10-17] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000718 PMID:20691407 PCS 2/6 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000733 PMID:20691407 PCS 3/3 P HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001428 OMIM:600430 IEA I HPO:iea[2009-02-17] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0012171 PMID:20691407 PCS 1/6 P HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000455 PMID:20691407 PCS 5/6 P HPO:skoehler[2013-06-12];HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000752 OMIM:600430 TAS P HPO:skoehler[2012-10-17] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000455 OMIM:600430 TAS P HPO:skoehler[2013-06-12] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000311 OMIM:600430 IEA P HPO:iea[2009-02-17] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001249 OMIM:600430 IEA P HPO:iea[2009-02-17] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0009803 OMIM:600430 IEA P HPO:iea[2009-02-17] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001265 OMIM:600430 TAS P HPO:skoehler[2012-10-17] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0002553 OMIM:600430 TAS P HPO:skoehler[2017-07-13] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001682 OMIM:600430 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001265 OMIM:600430 TAS P HPO:skoehler[2012-10-17] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001682 PMID:20691407 PCS 1/7 P HPO:skoehler[2012-11-18];HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000750 PMID:20691407 PCS 7/7 P HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0005863 PMID:20691407 PCS 5/6 P HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0011968 PMID:20691407 PCS 1/6 P HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000490 OMIM:600430 TAS P HPO:skoehler[2017-07-13] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001263 OMIM:600430 IEA P HPO:iea[2009-02-17] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000272 OMIM:600430 TAS P HPO:skoehler[2012-10-17] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001263 PMID:20691407 PCS 7/7 P HPO:iea[2009-02-17];HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000272 PMID:20691407 PCS 5/6 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0045025 OMIM:600430 IEA P HPO:skoehler[2018-10-08] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0011800 OMIM:600430 TAS P HPO:skoehler[2013-11-28] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0011800 PMID:20691407 PCS 5/6 P HPO:skoehler[2013-11-28];HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0005280 OMIM:600430 TAS P HPO:skoehler[2017-07-13] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0012166 PMID:20691407 PCS 2/6 P HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000407 OMIM:600430 TAS HP:0040283 P HPO:skoehler[2014-05-04] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000729 PMID:20691407 PCS 1/6 P HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000964 OMIM:600430 IEA P HPO:iea[2009-02-17] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0100716 OMIM:600430 TAS P HPO:skoehler[2012-10-17] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001513 OMIM:600430 TAS P HPO:skoehler[2012-10-17] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000248 OMIM:600430 TAS P HPO:skoehler[2012-10-17] -OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000006 OMIM:600430 TAS I HPO:skoehler[2015-12-30] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000821 PMID:20691407 PCS 2/7 P HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0100716 PMID:20691407 PCS 3/6 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000006 PMID:20691407 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000248 PMID:20691407 PCS 3/4 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001513 PMID:20691407 PCS 5/7 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-08] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0001831 OMIM:600430 IEA P HPO:iea[2009-02-17] OMIM:600430 Chromosome 2q37 deletion syndrome HP:0000445 OMIM:600430 TAS P HPO:skoehler[2017-07-13] +OMIM:600430 Chromosome 2q37 deletion syndrome HP:0004689 PMID:20691407 PCS 4/6 P HPO:probinson[2023-06-08] OMIM:620086 Intellectual developmental disorder with ocular anomalies and distinctive facial features HP:0000286 PMID:36067766 PCS 4/4 P HPO:probinson[2022-12-04] OMIM:620086 Intellectual developmental disorder with ocular anomalies and distinctive facial features HP:0000341 PMID:36067766 PCS 4/4 P HPO:probinson[2022-12-04] OMIM:620086 Intellectual developmental disorder with ocular anomalies and distinctive facial features HP:0000582 PMID:36067766 PCS 4/4 P HPO:probinson[2022-12-04] @@ -125141,6 +126483,7 @@ OMIM:271980 Succinic semialdehyde dehydrogenase deficiency HP:0002133 OMIM:2719 OMIM:271980 Succinic semialdehyde dehydrogenase deficiency HP:0000496 OMIM:271980 IEA P HPO:iea[2009-02-17] OMIM:271980 Succinic semialdehyde dehydrogenase deficiency HP:0001263 OMIM:271980 TAS 20/20 P HPO:skoehler[2019-02-22];HPO:skoehler[2014-04-04] OMIM:271980 Succinic semialdehyde dehydrogenase deficiency HP:0000709 OMIM:271980 TAS P HPO:probinson[2009-02-17] +OMIM:271980 Succinic semialdehyde dehydrogenase deficiency HP:0000708 PMID:12743223 PCS 28/62 P HPO:probinson[2020-09-19] OMIM:271980 Succinic semialdehyde dehydrogenase deficiency HP:0000007 PMID:12743223 PCS I HPO:iea[2009-02-17];HPO:probinson[2020-09-19] OMIM:271980 Succinic semialdehyde dehydrogenase deficiency HP:0100716 OMIM:271980 TAS P HPO:skoehler[2013-05-31] OMIM:271980 Succinic semialdehyde dehydrogenase deficiency HP:0500253 OMIM:271980 TAS P HP:probinson[2019-06-12] @@ -125537,6 +126880,15 @@ OMIM:176500 Cerebral amyloid angiopathy, itm2b-related, 1 HP:0002063 OMIM:17650 OMIM:176500 Cerebral amyloid angiopathy, itm2b-related, 1 HP:0001257 OMIM:176500 TAS P HPO:skoehler[2012-10-17] OMIM:176500 Cerebral amyloid angiopathy, itm2b-related, 1 HP:0000006 OMIM:176500 IEA I HPO:iea[2009-02-17] OMIM:176500 Cerebral amyloid angiopathy, itm2b-related, 1 HP:0001337 OMIM:176500 IEA P HPO:skoehler[2010-06-20] +OMIM:620247 Cardiomyopathy, dilated, 1OO HP:0003596 PMID:36657711 PCS 5/8 C HPO:probinson[2023-06-12] +OMIM:620247 Cardiomyopathy, dilated, 1OO HP:0011462 PMID:36657711 PCS 3/8 C HPO:probinson[2023-06-12] +OMIM:620247 Cardiomyopathy, dilated, 1OO HP:0011706 PMID:36657711 PCS 3/8 P HPO:probinson[2023-06-12] +OMIM:620247 Cardiomyopathy, dilated, 1OO HP:0006682 PMID:36657711 PCS 2/8 P HPO:probinson[2023-06-12] +OMIM:620247 Cardiomyopathy, dilated, 1OO HP:0001635 PMID:36657711 PCS 3/8 P HPO:probinson[2023-06-12] +OMIM:620247 Cardiomyopathy, dilated, 1OO HP:0012664 PMID:36657711 PCS 8/8 P HPO:probinson[2023-06-12] +OMIM:620247 Cardiomyopathy, dilated, 1OO HP:0001631 PMID:36657711 PCS 2/8 P HPO:probinson[2023-06-12] +OMIM:620247 Cardiomyopathy, dilated, 1OO HP:0000006 PMID:36657711 PCS I HPO:probinson[2023-06-12] +OMIM:620247 Cardiomyopathy, dilated, 1OO HP:0001644 PMID:36657711 PCS 8/8 P HPO:probinson[2023-06-12] OMIM:309350 Melnick-Needles syndrome HP:0002982 OMIM:309350 TAS P HPO:probinson[2009-02-17] OMIM:309350 Melnick-Needles syndrome HP:0003015 OMIM:309350 IEA P HPO:iea[2009-02-17] OMIM:309350 Melnick-Needles syndrome HP:0000486 OMIM:309350 IEA P HPO:iea[2009-02-17] @@ -125688,6 +127040,16 @@ OMIM:616939 Chorea, childhood-onset, with psychomotor retardation HP:0000007 PM OMIM:616939 Chorea, childhood-onset, with psychomotor retardation HP:0004305 PMID:27123486 PCS P HPO:probinson[2017-06-25] OMIM:616939 Chorea, childhood-onset, with psychomotor retardation HP:0001249 OMIM:616939 TAS P HPO:skoehler[2017-07-13] OMIM:616939 Chorea, childhood-onset, with psychomotor retardation HP:0002457 PMID:27123486 PCS P HPO:probinson[2017-06-25] +OMIM:620253 Cataract 50 with or without glaucoma HP:0003577 PMID:25090642 PCS 3/29 C HPO:probinson[2023-06-12] +OMIM:620253 Cataract 50 with or without glaucoma HP:0003621 PMID:25090642 PCS 13/29 C HPO:probinson[2023-06-12] +OMIM:620253 Cataract 50 with or without glaucoma HP:0009917 PMID:25090642 PCS 3/29 P HPO:probinson[2023-06-12];HPO:probinson[2023-06-12] +OMIM:620253 Cataract 50 with or without glaucoma HP:0000541 PMID:25090642 PCS 3/29 P HPO:probinson[2023-06-12];HPO:probinson[2023-06-12] +OMIM:620253 Cataract 50 with or without glaucoma HP:0003596 PMID:25090642 PCS 1/29 C HPO:probinson[2023-06-12] +OMIM:620253 Cataract 50 with or without glaucoma HP:0000518 PMID:25090642 PCS 24/29 P HPO:probinson[2023-06-12];HPO:probinson[2023-06-12] +OMIM:620253 Cataract 50 with or without glaucoma HP:0011463 PMID:25090642 PCS 4/29 C HPO:probinson[2023-06-12] +OMIM:620253 Cataract 50 with or without glaucoma HP:0011462 PMID:25090642 PCS 8/29 C HPO:probinson[2023-06-12] +OMIM:620253 Cataract 50 with or without glaucoma HP:0000006 PMID:25090642 PCS I HPO:probinson[2023-06-12];HPO:probinson[2023-06-12] +OMIM:620253 Cataract 50 with or without glaucoma HP:0000501 PMID:25090642 PCS 15/29 P HPO:probinson[2023-06-12];HPO:probinson[2023-06-12] OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0001276 PMID:31402090 PCS 2/7 P HPO:probinson[2020-08-13] OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0000486 PMID:31402090 PCS 1/7 P HPO:probinson[2020-08-13] OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0001156 PMID:31402090 PCS 2/7 P HPO:probinson[2020-08-13] @@ -125697,6 +127059,7 @@ OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0001290 PMID: OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0001270 PMID:31402090 PCS 6/7 P HPO:probinson[2020-08-13] OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0009183 PMID:31402090 PCS 1/7 P HPO:probinson[2020-08-13];HPO:probinson[2020-08-13] OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0000718 PMID:31402090 PCS 2/6 P HPO:probinson[2020-08-13] +OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0000733 PMID:31402090 PCS 1/6 P HPO:probinson[2020-08-13] OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0000378 PMID:31402090 PCS 1/7 P HPO:probinson[2020-08-13] OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0000278 PMID:31402090 PCS 3/7 P HPO:probinson[2020-08-13] OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome HP:0001642 PMID:31402090 PCS 1/7 P HPO:probinson[2020-08-13] @@ -126042,6 +127405,7 @@ OMIM:619405 Spinocerebellar ataxia, autosomal recessive 30 HP:0030187 PMID:2976 OMIM:619405 Spinocerebellar ataxia, autosomal recessive 30 HP:0003593 PMID:29764912 PCS 2/4 C HPO:probinson[2021-08-22] OMIM:619405 Spinocerebellar ataxia, autosomal recessive 30 HP:0011463 PMID:26697887;PMID:29764912 PCS 4/6 C HPO:probinson[2021-08-22] OMIM:619405 Spinocerebellar ataxia, autosomal recessive 30 HP:0000007 PMID:26697887 PCS I HPO:probinson[2021-08-22];HPO:probinson[2021-08-22] +OMIM:619405 Spinocerebellar ataxia, autosomal recessive 30 HP:0000722 PMID:26697887 PCS 2/2 P HPO:probinson[2021-08-22] OMIM:619405 Spinocerebellar ataxia, autosomal recessive 30 HP:0000725 PMID:26697887;PMID:29764912 PCS 4/6 P HPO:probinson[2021-08-22] OMIM:619405 Spinocerebellar ataxia, autosomal recessive 30 HP:0002317 PMID:29764912 PCS 1/4 P HPO:probinson[2021-08-22] OMIM:619405 Spinocerebellar ataxia, autosomal recessive 30 HP:0025435 PMID:29764912 PCS 1/4 P HPO:probinson[2021-08-22] @@ -126340,6 +127704,7 @@ OMIM:616722 Retinal dystrophy and iris coloboma with or without congenital catar OMIM:616722 Retinal dystrophy and iris coloboma with or without congenital cataract HP:0000006 PMID:26056285 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2022-03-31] OMIM:616722 Retinal dystrophy and iris coloboma with or without congenital cataract HP:0001105 PMID:26056285 PCS P HPO:skoehler[2015-12-30];HPO:probinson[2022-03-31] OMIM:610353 Epilepsy, nocturnal frontal lobe, 4 HP:0025144 OMIM:610353 IEA P HPO:skoehler[2018-10-08] +OMIM:610353 Epilepsy, nocturnal frontal lobe, 4 HP:0000708 OMIM:610353 IEA P HPO:skoehler[2010-06-20] OMIM:610353 Epilepsy, nocturnal frontal lobe, 4 HP:0003621 PMID:16826524 PCS 8/10 C HPO:probinson[2022-09-03] OMIM:610353 Epilepsy, nocturnal frontal lobe, 4 HP:0001289 OMIM:610353 IEA P HPO:skoehler[2018-10-08] OMIM:610353 Epilepsy, nocturnal frontal lobe, 4 HP:0001332 OMIM:610353 IEA P HPO:skoehler[2018-10-08] @@ -126645,11 +128010,13 @@ OMIM:612540 Myopathy, congenital, compton-north HP:0000300 OMIM:612540 IEA OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0001250 OMIM:613886 IEA HP:0040284 P HPO:skoehler[2018-10-08] OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0002121 PMID:15494731 PCS 1/1 P HPO:probinson[2023-01-23] OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0002591 PMID:15494731 PCS 1/1 P HPO:probinson[2013-08-10];HPO:probinson[2023-01-23] -OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0000729 OMIM:613886 IEA P HPO:skoehler[2018-10-08] OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0001252 PMID:15494731 PCS HP:0003593 1/1 P HPO:probinson[2023-01-23] OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0003593 PMID:15494731 PCS 1/1 C HPO:probinson[2023-01-23] OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0012448 OMIM:613886 IEA HP:0040284 P HPO:skoehler[2018-10-08] OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0011344 PMID:15494731 PCS 1/1 P HPO:probinson[2013-08-10];HPO:probinson[2023-01-23] +OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0000729 OMIM:613886 IEA P HPO:skoehler[2018-10-08] +OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0000817 OMIM:613886 IEA P HPO:skoehler[2019-04-18] +OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0000733 PMID:15494731 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2023-01-23] OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0001513 PMID:15494731 PCS 1/1 P HPO:probinson[2013-08-10];HPO:probinson[2023-01-23] OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0000006 PMID:15494731 PCS I HPO:probinson[2013-08-10];HPO:probinson[2023-01-23] OMIM:613886 Obesity, hyperphagia, and developmental delay HP:0001249 OMIM:613886 IEA P HPO:skoehler[2018-10-08] @@ -127200,6 +128567,26 @@ OMIM:161050 Nail disorder, nonsyndromic congenital, 1 HP:0001806 PMID:30642273 OMIM:161050 Nail disorder, nonsyndromic congenital, 1 HP:0000007 PMID:23374899 PCS I HPO:probinson[2020-07-17] OMIM:161050 Nail disorder, nonsyndromic congenital, 1 HP:0030804 OMIM:161050 IEA P HPO:skoehler[2018-10-08] OMIM:161050 Nail disorder, nonsyndromic congenital, 1 HP:0003677 OMIM:161050 TAS C HPO:skoehler[2012-10-17] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0000252 PMID:35953447 PCS 1/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0000750 PMID:35455965;PMID:35953447 PCS 3/6 HP:0012825 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0002188 PMID:35455965;PMID:35953447 PCS 6/6 P HPO:probinson[2023-06-15];HPO:probinson[2023-06-15];HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0031936 PMID:35455965 PCS 2/2 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0001332 PMID:35953447 PCS 1/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0001250 PMID:35953447 PCS 3/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0002066 PMID:35953447 PCS 2/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0001260 PMID:35953447 PCS 1/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0001252 PMID:35455965;PMID:35953447 PCS 5/6 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0000592 PMID:35953447 PCS 1/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0001263 PMID:35953447 PCS 3/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0003593 PMID:35455965 PCS 1/2 C HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0010864 PMID:35953447 PCS 1/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0031987 PMID:35953447 PCS 1/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0000639 PMID:35455965;PMID:35953447 PCS 6/6 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0011342 PMID:35455965 PCS 2/2 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0000817 PMID:35953447 PCS 1/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0001510 PMID:35953447 PCS 1/4 P HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0000006 PMID:35455965 PCS I HPO:probinson[2023-06-15] +OMIM:620243 Leukodystrophy, hypomyelinating, 25 HP:0003623 PMID:35455965;PMID:35953447 PCS 5/6 C HPO:probinson[2023-06-15] OMIM:600193 Waardenburg syndrome, type IIB HP:0001100 OMIM:600193 IEA P HPO:iea[2009-02-17] OMIM:600193 Waardenburg syndrome, type IIB HP:0002211 OMIM:600193 IEA P HPO:iea[2009-02-17] OMIM:600193 Waardenburg syndrome, type IIB HP:0000271 OMIM:600193 IEA P HPO:iea[2009-02-17] @@ -127216,11 +128603,11 @@ OMIM:607373 Autism, susceptibility to, 8 HP:0011463 OMIM:607373 IEA C HPO:i OMIM:607373 Autism, susceptibility to, 8 HP:0000717 OMIM:607373 TAS P HPO:skoehler[2009-02-17] OMIM:607373 Autism, susceptibility to, 8 HP:0000728 OMIM:607373 IEA P HPO:iea[2009-02-17] OMIM:607373 Autism, susceptibility to, 8 HP:0000723 OMIM:607373 TAS P HPO:skoehler[2013-06-04] +OMIM:607373 Autism, susceptibility to, 8 HP:0000733 OMIM:607373 TAS P HPO:skoehler[2009-02-17] OMIM:607373 Autism, susceptibility to, 8 HP:0001426 OMIM:607373 IEA I HPO:iea[2009-02-17] OMIM:607373 Autism, susceptibility to, 8 HP:0000758 OMIM:607373 IEA P HPO:iea[2009-02-17] OMIM:607373 Autism, susceptibility to, 8 HP:0003745 OMIM:607373 IEA I HPO:iea[2009-02-17] OMIM:607373 Autism, susceptibility to, 8 HP:0000721 OMIM:607373 IEA P HPO:iea[2009-02-17] -OMIM:607373 Autism, susceptibility to, 8 HP:0000732 OMIM:607373 IEA P HPO:iea[2009-02-17] OMIM:607373 Autism, susceptibility to, 8 HP:0001249 OMIM:607373 IEA P HPO:iea[2009-02-17] OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33 HP:0001298 PMID:30245030 PCS P HPO:skoehler[2019-02-15];HPO:probinson[2022-10-17] OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33 HP:0002300 OMIM:618253 IEA P HPO:skoehler[2019-02-15] @@ -127275,21 +128662,23 @@ OMIM:612018 Cataract, juvenile, with microcornea and glucosuria HP:0000482 PMID OMIM:612018 Cataract, juvenile, with microcornea and glucosuria HP:0003076 PMID:18304496 PCS 9/14 P HPO:probinson[2013-04-03];HPO:probinson[2021-09-20] OMIM:612018 Cataract, juvenile, with microcornea and glucosuria NOT HP:0000568 PMID:18304496 PCS P HPO:probinson[2013-04-03] OMIM:612018 Cataract, juvenile, with microcornea and glucosuria HP:0000006 PMID:18304496 PCS I HPO:probinson[2013-04-03] -OMIM:278750 Xeroderma pigmentosum, Variant type NOT HP:0000252 OMIM:278750 TAS P HPO:probinson[2012-08-01] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0000992 OMIM:278750 TAS P HPO:probinson[2009-02-17] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0004334 OMIM:278750 TAS P HPO:probinson[2009-02-17] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0002860 OMIM:278750 TAS P HPO:probinson[2012-03-03] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0000491 OMIM:278750 TAS P HPO:probinson[2009-02-17] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0002671 OMIM:278750 TAS P HPO:probinson[2012-03-03] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0012056 OMIM:278750 TAS P HPO:probinson[2012-08-01] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0000509 OMIM:278750 TAS P HPO:probinson[2009-02-17] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0000613 OMIM:278750 TAS P HPO:probinson[2009-02-17] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0001009 OMIM:278750 TAS P HPO:probinson[2009-02-17] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0000656 OMIM:278750 TAS P HPO:probinson[2009-02-17] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0000007 OMIM:278750 TAS I HPO:skoehler[2014-05-04] -OMIM:278750 Xeroderma pigmentosum, Variant type NOT HP:0001510 OMIM:278750 TAS P HPO:probinson[2012-08-01] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0001029 OMIM:278750 TAS P HPO:probinson[2009-02-17] -OMIM:278750 Xeroderma pigmentosum, Variant type HP:0000621 OMIM:278750 TAS P HPO:probinson[2009-02-17] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0000252 PMID:7264357 PCS 0/1 P HPO:probinson[2012-08-01];HPO:probinson[2023-06-10] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0000992 PMID:7264357 PCS 1/1 P HPO:probinson[2009-02-17];HPO:probinson[2023-06-10] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0004334 OMIM:278750 TAS P HPO:probinson[2009-02-17] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0002860 PMID:36308448 PCS 4/10 P HPO:probinson[2012-03-03];HPO:probinson[2023-06-10] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0000491 OMIM:278750 TAS P HPO:probinson[2009-02-17] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0002671 PMID:36308448 PCS 2/10 P HPO:probinson[2012-03-03];HPO:probinson[2023-06-10] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0003593 PMID:7264357 PCS 1/1 C HPO:probinson[2023-06-10] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0034697 PMID:7264357 PCS 1/1 P HPO:probinson[2023-06-10] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0012056 PMID:36308448 PCS 0/10 P HPO:probinson[2012-08-01];HPO:probinson[2023-06-10] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0000509 OMIM:278750 TAS P HPO:probinson[2009-02-17] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0000613 OMIM:278750 TAS P HPO:probinson[2009-02-17] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0000007 PMID:10385124 PCS I HPO:skoehler[2014-05-04];HPO:probinson[2023-06-10] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0000656 OMIM:278750 TAS P HPO:probinson[2009-02-17] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0001510 PMID:7264357 PCS 0/1 P HPO:probinson[2012-08-01];HPO:probinson[2023-06-10] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0001029 OMIM:278750 TAS P HPO:probinson[2009-02-17] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0000621 OMIM:278750 TAS P HPO:probinson[2009-02-17] +OMIM:278750 Xeroderma pigmentosum, variant type HP:0007603 PMID:36308448 PCS 10/10 P HPO:probinson[2023-06-10] OMIM:114140 Callosities, hereditary painful HP:0000006 OMIM:114140 IEA I HPO:iea[2009-02-17] OMIM:114140 Callosities, hereditary painful HP:0000951 OMIM:114140 IEA P HPO:iea[2009-02-17] OMIM:615777 Desbuquois dysplasia 2 HP:0000286 PMID:24581741 PCS 1/7 P HPO:skoehler[2019-04-18];HPO:probinson[2021-05-11] @@ -127470,6 +128859,7 @@ OMIM:186350 Syndactyly-Polydactyly-Earlobe syndrome HP:0000006 OMIM:186350 IEA OMIM:186350 Syndactyly-Polydactyly-Earlobe syndrome HP:0005767 OMIM:186350 IEA P HPO:iea[2009-02-17] OMIM:186350 Syndactyly-Polydactyly-Earlobe syndrome HP:0001853 OMIM:186350 TAS P HPO:probinson[2013-03-24] OMIM:615005 Epilepsy, nocturnal frontal lobe, 5 HP:0000709 PMID:23086396 PCS HP:0040283 P HPO:skoehler[2013-01-21];HPO:probinson[2022-11-07] +OMIM:615005 Epilepsy, nocturnal frontal lobe, 5 HP:0000708 PMID:23086396 PCS 10/15 P HPO:skoehler[2013-01-11];HPO:probinson[2022-11-07] OMIM:615005 Epilepsy, nocturnal frontal lobe, 5 HP:0003621 PMID:23086396 PCS C HPO:probinson[2022-11-07] OMIM:615005 Epilepsy, nocturnal frontal lobe, 5 HP:0002133 OMIM:615005 TAS HP:0040283 P HPO:skoehler[2013-01-21] OMIM:615005 Epilepsy, nocturnal frontal lobe, 5 HP:0000716 OMIM:615005 TAS P HPO:skoehler[2015-12-30] @@ -127514,19 +128904,6 @@ OMIM:613312 Hypophosphatemic rickets, autosomal recessive, 2 HP:0002857 OMIM:61 OMIM:613312 Hypophosphatemic rickets, autosomal recessive, 2 HP:0004912 PMID:20137773 PCS 5/5 P HPO:skoehler[2013-01-09];HPO:probinson[2022-08-17] OMIM:613312 Hypophosphatemic rickets, autosomal recessive, 2 HP:0001642 OMIM:613312 IEA P HPO:skoehler[2018-10-08] OMIM:613312 Hypophosphatemic rickets, autosomal recessive, 2 HP:0000685 OMIM:613312 IEA P HPO:skoehler[2018-10-08] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0002342 OMIM:249599 IEA P HPO:iea[2009-02-17] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0000276 OMIM:249599 IEA P HPO:iea[2009-02-17] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0001250 OMIM:249599 IEA P HPO:iea[2009-02-17] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0000490 OMIM:249599 IEA P HPO:iea[2009-02-17] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0003782 OMIM:249599 IEA P HPO:iea[2009-02-17] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0003191 OMIM:249599 TAS P HPO:probinson[2013-12-20] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0000819 OMIM:249599 IEA P HPO:iea[2009-02-17] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0000815 OMIM:249599 IEA P HPO:iea[2009-02-17] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0001999 OMIM:249599 IEA P HPO:iea[2009-02-17] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0000007 OMIM:249599 IEA I HPO:iea[2009-02-17] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0000303 OMIM:249599 IEA P HPO:iea[2009-02-17] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0000589 OMIM:249599 IEA P HPO:skoehler[2018-10-08] -OMIM:249599 Mental retardation syndrome, Belgian type HP:0000445 OMIM:249599 IEA P HPO:skoehler[2010-06-20] OMIM:617174 Ehlers-Danlos syndrome, periodontal type, 2 HP:0034518 PMID:27745832 PCS 26/28 P HPO:probinson[2023-02-19] OMIM:617174 Ehlers-Danlos syndrome, periodontal type, 2 HP:0002650 PMID:27745832 PCS 14/51 P HPO:skoehler[2017-07-13];HPO:probinson[2023-02-19] OMIM:617174 Ehlers-Danlos syndrome, periodontal type, 2 HP:0000023 PMID:27745832 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2023-02-19] @@ -127708,6 +129085,7 @@ OMIM:234200 Neurodegeneration with brain iron accumulation 1 HP:0003621 PMID:15 OMIM:234200 Neurodegeneration with brain iron accumulation 1 HP:0031814 OMIM:234200 IEA P HPO:skoehler[2018-10-08] OMIM:234200 Neurodegeneration with brain iron accumulation 1 HP:0001288 OMIM:234200 IEA P HPO:iea[2009-02-17] OMIM:234200 Neurodegeneration with brain iron accumulation 1 HP:0000273 OMIM:234200 IEA P HPO:iea[2009-02-17] +OMIM:234200 Neurodegeneration with brain iron accumulation 1 HP:0000708 OMIM:234200 TAS P HPO:skoehler[2012-11-18] OMIM:234200 Neurodegeneration with brain iron accumulation 1 HP:0007256 OMIM:234200 TAS P HPO:skoehler[2015-01-04] OMIM:234200 Neurodegeneration with brain iron accumulation 1 HP:0000546 OMIM:234200 IEA P HPO:iea[2009-02-17] OMIM:608068 Neutrophilic dermatosis, acute febrile HP:0025452 PMID:27030597;PMID:28835462 PCS 11/13 P HPO:probinson[2020-08-13];HPO:probinson[2020-11-27] @@ -127884,6 +129262,7 @@ OMIM:608097 Periventricular heterotopia with microcephaly, autosomal recessive OMIM:608097 Periventricular heterotopia with microcephaly, autosomal recessive HP:0010864 OMIM:608097 TAS P HPO:skoehler[2015-12-30] OMIM:608097 Periventricular heterotopia with microcephaly, autosomal recessive HP:0001508 OMIM:608097 TAS HP:0040283 P HPO:skoehler[2014-01-28] OMIM:608097 Periventricular heterotopia with microcephaly, autosomal recessive HP:0007165 PMID:12682315 PCS P HPO:probinson[2013-03-24] +OMIM:608097 Periventricular heterotopia with microcephaly, autosomal recessive HP:0000817 OMIM:608097 TAS P HPO:skoehler[2014-01-28] OMIM:608097 Periventricular heterotopia with microcephaly, autosomal recessive HP:0000007 PMID:12682315 PCS I HPO:probinson[2013-01-09] OMIM:608097 Periventricular heterotopia with microcephaly, autosomal recessive HP:0001249 OMIM:608097 TAS HP:0012828 P HPO:skoehler[2014-01-28] OMIM:618284 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum HP:0001276 OMIM:618284 IEA P HPO:skoehler[2019-02-15] @@ -128176,6 +129555,7 @@ OMIM:204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) HP:0011462 PMID:215 OMIM:204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) HP:0000007 PMID:21549341 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-05-15] OMIM:204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) HP:0008765 OMIM:204300 TAS P HPO:probinson[2012-06-11] OMIM:204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) HP:0003208 OMIM:204300 IEA P HPO:skoehler[2010-06-20] +OMIM:204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) HP:0003657 OMIM:204300 IEA P HPO:skoehler[2010-06-20] OMIM:204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) HP:0007359 PMID:21549341 PCS 2/14 P HPO:probinson[2022-05-15];HPO:probinson[2022-05-15] OMIM:204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) HP:0001268 PMID:21549341 PCS 14/14 P HPO:probinson[2022-05-15] OMIM:204300 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) HP:0003226 OMIM:204300 IEA P HPO:skoehler[2010-06-20] @@ -128917,6 +130297,7 @@ OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia HP:0001270 PMID:32761064 PCS 7/8 P HPO:probinson[2020-12-03] OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia HP:0012450 PMID:32761064 PCS 3/7 P HPO:probinson[2020-12-03] OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia HP:0000337 PMID:32761064 PCS 1/9 P HPO:probinson[2020-12-03] +OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia HP:0000733 PMID:32761064 PCS 1/5 P HPO:probinson[2020-12-03] OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia HP:0000218 PMID:32761064 PCS 1/9 P HPO:probinson[2020-12-03] OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia HP:0000577 PMID:32761064 PCS 1/9 P HPO:probinson[2020-12-03] OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia HP:0000750 PMID:32761064 PCS 7/8 P HPO:probinson[2020-12-03] @@ -129067,6 +130448,7 @@ OMIM:619777 Developmental and epileptic encephalopathy 100 HP:0002280 PMID:3328 OMIM:619777 Developmental and epileptic encephalopathy 100 HP:0012444 PMID:30160831 PCS 1/1 P HPO:probinson[2022-05-29] OMIM:619777 Developmental and epileptic encephalopathy 100 HP:0006297 PMID:30160831 PCS 1/1 P HPO:probinson[2022-05-29] OMIM:619777 Developmental and epileptic encephalopathy 100 HP:0012450 PMID:30160831 PCS 1/1 P HPO:probinson[2022-05-29] +OMIM:619777 Developmental and epileptic encephalopathy 100 HP:0000733 PMID:33280099 PCS 2/9 P HPO:probinson[2022-05-29] OMIM:619777 Developmental and epileptic encephalopathy 100 HP:0002119 PMID:30160831 PCS 1/1 P HPO:probinson[2022-05-29] OMIM:619777 Developmental and epileptic encephalopathy 100 HP:0002835 PMID:30160831 PCS 1/1 P HPO:probinson[2022-05-29] OMIM:619777 Developmental and epileptic encephalopathy 100 HP:0000218 PMID:30160831 PCS 1/1 P HPO:probinson[2022-05-29] @@ -129257,6 +130639,7 @@ OMIM:618482 Generalized epilepsy with febrile seizures plus, type 10 HP:0001263 OMIM:618482 Generalized epilepsy with febrile seizures plus, type 10 HP:0003829 OMIM:618482 IEA I HPO:skoehler[2019-09-07] OMIM:618482 Generalized epilepsy with febrile seizures plus, type 10 HP:0000006 PMID:30351409 PCS I HPO:probinson[2019-07-06];HPO:probinson[2019-07-06] OMIM:618482 Generalized epilepsy with febrile seizures plus, type 10 HP:0001249 PMID:30351409 PCS 13/19 P HPO:probinson[2019-07-06];HPO:probinson[2019-07-06] +OMIM:300984 Mental retardation, X-linked 105 HP:0000708 PMID:25644381 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2021-09-27] OMIM:300984 Mental retardation, X-linked 105 HP:0001344 PMID:25644381 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2021-09-27] OMIM:300984 Mental retardation, X-linked 105 HP:0001419 PMID:25644381 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2021-09-27] OMIM:300984 Mental retardation, X-linked 105 HP:0001249 PMID:25644381 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2021-09-27] @@ -129721,6 +131104,7 @@ OMIM:617799 Intellectual developmental disorder, autosomal dominant 54 HP:00012 OMIM:617799 Intellectual developmental disorder, autosomal dominant 54 HP:0002360 PMID:29100089 PCS 1/10 P HPO:probinson[2022-06-03] OMIM:617799 Intellectual developmental disorder, autosomal dominant 54 HP:0008070 PMID:29100089 PCS 1/10 P HPO:probinson[2022-06-03] OMIM:617799 Intellectual developmental disorder, autosomal dominant 54 HP:0000737 PMID:29100089 PCS 4/10 P HPO:probinson[2022-06-03] +OMIM:617799 Intellectual developmental disorder, autosomal dominant 54 HP:0000817 PMID:29100089 PCS 3/10 P HPO:probinson[2022-06-03] OMIM:617799 Intellectual developmental disorder, autosomal dominant 54 HP:0012450 PMID:29100089 PCS 4/10 P HPO:probinson[2022-06-03] OMIM:617799 Intellectual developmental disorder, autosomal dominant 54 HP:0025116 PMID:29100089 PCS 1/10 P HPO:probinson[2022-06-03] OMIM:617799 Intellectual developmental disorder, autosomal dominant 54 HP:0000016 PMID:29100089 PCS 1/10 P HPO:probinson[2022-06-03] @@ -130263,6 +131647,7 @@ OMIM:619575 Developmental delay with or without intellectual impairment or behav OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities HP:0001629 PMID:33565190 PCS 3/20 P HPO:probinson[2021-11-27] OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities HP:0001947 PMID:31230721 PCS 1/8 P HPO:probinson[2021-11-27] OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities HP:0012450 PMID:33565190 PCS 3/20 P HPO:probinson[2021-11-27] +OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities HP:0000733 PMID:33565190 PCS 1/20 P HPO:probinson[2021-11-27] OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities HP:0000736 PMID:31230721 PCS 2/8 P HPO:probinson[2021-11-27] OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities HP:0000256 PMID:33565190;PMID:31230721 PCS 10/26 P HPO:probinson[2021-11-27] OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities HP:0001942 PMID:31230721 PCS 1/8 P HPO:probinson[2021-11-27] @@ -130558,6 +131943,7 @@ OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7 HP:00 OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7 HP:0000718 OMIM:600795 IEA P HPO:iea[2009-02-17] OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7 HP:0000734 OMIM:600795 IEA P HPO:iea[2009-02-17] OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7 HP:0000711 OMIM:600795 IEA P HPO:iea[2009-02-17] +OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7 HP:0000733 OMIM:600795 IEA P HPO:iea[2009-02-17] OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7 HP:0000757 OMIM:600795 IEA P HPO:iea[2009-02-17] OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7 HP:0000751 OMIM:600795 IEA P HPO:iea[2009-02-17] OMIM:600795 Frontotemporal dementia and/or amytrophic lateral sclerosis 7 HP:0000710 OMIM:600795 IEA P HPO:iea[2009-02-17] @@ -130602,6 +131988,7 @@ OMIM:256730 Ceroid lipofuscinosis, neuronal, 1 HP:0000608 OMIM:256730 IEA P OMIM:256730 Ceroid lipofuscinosis, neuronal, 1 HP:0000007 PMID:7637805 PCS I HPO:iea[2009-02-17];HPO:probinson[2023-02-22] OMIM:256730 Ceroid lipofuscinosis, neuronal, 1 HP:0000546 OMIM:256730 IEA P HPO:iea[2009-02-17] OMIM:256730 Ceroid lipofuscinosis, neuronal, 1 HP:0000648 OMIM:256730 IEA P HPO:iea[2009-02-17] +OMIM:256730 Ceroid lipofuscinosis, neuronal, 1 HP:0003657 PMID:7637805 PCS 16/16 P HPO:probinson[2023-02-22] OMIM:256730 Ceroid lipofuscinosis, neuronal, 1 HP:0001257 OMIM:256730 IEA P HPO:iea[2009-02-17] OMIM:256730 Ceroid lipofuscinosis, neuronal, 1 HP:0001336 OMIM:256730 IEA P HPO:iea[2009-02-17] OMIM:125000 Deafness, unilateral HP:0009900 OMIM:125000 TAS P HPO:probinson[2013-03-10] @@ -131126,6 +132513,7 @@ OMIM:309590 Mental retardation, x-linked syndromic, Turner type HP:0002162 OMIM OMIM:309590 Mental retardation, x-linked syndromic, Turner type HP:0002360 PMID:29180823 PCS 5/21 P HPO:probinson[2021-02-20] OMIM:309590 Mental retardation, x-linked syndromic, Turner type HP:0001270 PMID:29180823 PCS 20/21 P HPO:probinson[2021-02-20] OMIM:309590 Mental retardation, x-linked syndromic, Turner type HP:0000414 OMIM:309590 IEA P HPO:skoehler[2019-09-07] +OMIM:309590 Mental retardation, x-linked syndromic, Turner type HP:0000733 PMID:29180823 PCS 8/17 P HPO:probinson[2021-02-20] OMIM:309590 Mental retardation, x-linked syndromic, Turner type HP:0000219 PMID:29180823 PCS 16/21 P HPO:skoehler[2019-09-07];HPO:probinson[2021-02-20] OMIM:309590 Mental retardation, x-linked syndromic, Turner type HP:0002119 PMID:29180823 PCS 4/21 P HPO:probinson[2021-02-20] OMIM:309590 Mental retardation, x-linked syndromic, Turner type HP:0030084 OMIM:309590 IEA P HPO:skoehler[2019-09-07] @@ -132141,6 +133529,7 @@ OMIM:194190 Wolf-Hirschhorn syndrome HP:0001629 OMIM:194190 TAS P HPO:iea[2 OMIM:194190 Wolf-Hirschhorn syndrome HP:0007385 ISBN-13:978-3-7945-2657-4;OMIM:194190 TAS HP:0040283 P HPO:iea[2010-09-10] OMIM:194190 Wolf-Hirschhorn syndrome HP:0000612 ISBN-13:978-3-7945-2657-4 TAS 30% P HPO:iea[2009-02-17] OMIM:194190 Wolf-Hirschhorn syndrome HP:0030680 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs TAS HP:0040282 P HPO:iea[2010-09-10] +OMIM:194190 Wolf-Hirschhorn syndrome HP:0000733 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs TAS HP:0040282 P HPO:iea[2010-09-10] OMIM:194190 Wolf-Hirschhorn syndrome HP:0002119 OMIM:194190 TAS P HPO:skoehler[2012-10-17] OMIM:194190 Wolf-Hirschhorn syndrome HP:0001747 OMIM:194190 TAS P HPO:iea[2009-02-17] OMIM:194190 Wolf-Hirschhorn syndrome HP:0002714 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs TAS HP:0040282 P HPO:iea[2009-02-17] @@ -132699,6 +134088,7 @@ OMIM:618454 Developmental delay with or without dysmorphic facies and autism HP OMIM:618454 Developmental delay with or without dysmorphic facies and autism HP:0000729 PMID:30424743;PMID:30827496 PCS 6/25 P HPO:skoehler[2019-09-07];HPO:probinson[2022-10-31];HPO:probinson[2022-10-31] OMIM:618454 Developmental delay with or without dysmorphic facies and autism HP:0001537 PMID:30827496 PCS 1/24 P HPO:skoehler[2019-09-07];HPO:probinson[2022-10-31] OMIM:618454 Developmental delay with or without dysmorphic facies and autism HP:0000601 OMIM:618454 IEA P HPO:skoehler[2019-09-07] +OMIM:618454 Developmental delay with or without dysmorphic facies and autism HP:0000722 PMID:30827496 PCS 1/1 P HPO:skoehler[2019-09-07];HPO:probinson[2022-10-31] OMIM:618454 Developmental delay with or without dysmorphic facies and autism HP:0001539 PMID:30827496 PCS 1/24 P HPO:probinson[2022-10-31] OMIM:618454 Developmental delay with or without dysmorphic facies and autism HP:0004209 PMID:30827496 PCS 4/24 P HPO:skoehler[2019-09-07];HPO:probinson[2022-10-31] OMIM:618454 Developmental delay with or without dysmorphic facies and autism HP:0000322 OMIM:618454 IEA P HPO:skoehler[2019-09-07] @@ -133307,24 +134697,26 @@ OMIM:610829 Holoprosencephaly 9 HP:0000006 PMID:17096318 PCS I HPO:iea[2010 OMIM:610829 Holoprosencephaly 9 HP:0000028 OMIM:610829 TAS P HPO:skoehler[2014-06-24] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0000486 PMID:28051072 PCS 1/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0002540 PMID:28051072 PCS 2/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] -OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0002353 PMID:27164704 PCS 2/2 P HPO:probinson[2022-06-18] -OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0001344 PMID:27164704 PCS 2/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] -OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0002079 PMID:28051072 PCS 1/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0001332 PMID:27164704 PCS 2/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0001250 PMID:27164704 PCS 0/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0002120 PMID:28051072 PCS 1/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0001252 PMID:27164704;PMID:28051072 PCS 4/4 P HPO:probinson[2022-06-18] -OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0001263 PMID:27164704;PMID:28051072 PCS 4/4 P HPO:probinson[2022-06-18];HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0003593 PMID:28051072 PCS 2/2 C HPO:probinson[2022-06-18] -OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0011800 PMID:28051072 PCS 1/2 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0010864 PMID:27164704 PCS 2/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] -OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0000729 PMID:27164704 PCS 2/2 P HPO:probinson[2022-06-18] +OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0000817 PMID:28051072 PCS 1/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0000954 PMID:28051072 PCS 1/2 P HPO:probinson[2022-06-18] +OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0000733 PMID:28051072 PCS 1/2 P HPO:probinson[2022-06-18] +OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0000735 PMID:28051072 PCS 1/2 P HPO:probinson[2022-06-18] +OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0025336 PMID:28051072 PCS 2/2 P HPO:probinson[2022-06-18] +OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0002353 PMID:27164704 PCS 2/2 P HPO:probinson[2022-06-18] +OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0001344 PMID:27164704 PCS 2/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] +OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0002079 PMID:28051072 PCS 1/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] +OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0001263 PMID:27164704;PMID:28051072 PCS 4/4 P HPO:probinson[2022-06-18];HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] +OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0011800 PMID:28051072 PCS 1/2 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-18] +OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0000729 PMID:27164704 PCS 2/2 P HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0000007 PMID:27164704 PCS I HPO:nvasilevsky[2019-03-21];HPO:lccarmody[2019-03-21];HPO:skoehler[2019-03-21];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0100716 PMID:27164704 PCS 2/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0200134 PMID:28051072 PCS P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] -OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0000735 PMID:28051072 PCS 1/2 P HPO:probinson[2022-06-18] -OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0025336 PMID:28051072 PCS 2/2 P HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0002007 PMID:28051072 PCS 2/2 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0001257 PMID:27164704 PCS 2/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive HP:0004305 PMID:28051072 PCS 1/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-18] @@ -133339,6 +134731,7 @@ OMIM:159900 Dystonia 11, myoclonic HP:0011463 PMID:11528394 PCS 14/37 C HPO: OMIM:159900 Dystonia 11, myoclonic HP:0000739 PMID:11528394 PCS 1/37 P HPO:iea[2009-02-17] OMIM:159900 Dystonia 11, myoclonic HP:0003829 PMID:11528394 PCS I HPO:skoehler[2009-02-17];HPO:probinson[2023-02-12] OMIM:159900 Dystonia 11, myoclonic HP:0000756 OMIM:159900 IEA P HPO:iea[2009-02-17] +OMIM:159900 Dystonia 11, myoclonic HP:0000722 PMID:11528394 PCS 1/37 P HPO:iea[2009-02-17] OMIM:159900 Dystonia 11, myoclonic HP:0000006 PMID:11528394 PCS I HPO:iea[2009-02-17];HPO:probinson[2023-02-12] OMIM:159900 Dystonia 11, myoclonic HP:0001337 OMIM:159900 IEA P HPO:iea[2009-02-17] OMIM:159900 Dystonia 11, myoclonic HP:0001336 PMID:11528394 PCS 37/37 P HPO:skoehler[2009-02-17];HPO:probinson[2023-02-12] @@ -133399,6 +134792,7 @@ OMIM:617808 Coffin-siris syndrome 6 HP:0100033 PMID:26238514 PCS P HP:probi OMIM:617808 Coffin-siris syndrome 6 HP:0000739 PMID:26238514 PCS P HP:probinson[2018-05-19] OMIM:617808 Coffin-siris syndrome 6 HP:0100702 PMID:26238514 PCS 1/2 P HP:probinson[2018-05-19] OMIM:617808 Coffin-siris syndrome 6 HP:0006970 PMID:26238514 PCS 1/2 P HP:probinson[2018-05-19] +OMIM:617808 Coffin-siris syndrome 6 HP:0000733 PMID:26238514 PCS P HP:probinson[2018-05-19] OMIM:617808 Coffin-siris syndrome 6 HP:0030084 OMIM:617808 IEA P HPO:skoehler[2018-10-08] OMIM:617808 Coffin-siris syndrome 6 HP:0000455 OMIM:617808 IEA P HPO:skoehler[2018-10-08] OMIM:617808 Coffin-siris syndrome 6 HP:0002019 PMID:26238514 PCS P HP:probinson[2018-05-19] @@ -133912,6 +135306,7 @@ OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36 HP:0011923 PMID OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36 HP:0002280 PMID:32969598 PCS 1/3 P HPO:probinson[2021-02-19] OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36 HP:0011463 PMID:32969598 PCS 1/3 C HPO:probinson[2021-02-19] OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36 HP:0011682 PMID:32969598 PCS 1/3 P HPO:probinson[2021-02-19] +OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36 HP:0000817 PMID:32969598 PCS 1/3 P HPO:probinson[2021-02-19] OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36 HP:0002509 PMID:32969598 PCS 1/3 P HPO:probinson[2021-02-19] OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36 HP:0000007 PMID:32969598 PCS I HPO:probinson[2021-02-19];HPO:probinson[2021-02-19] OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36 HP:0006970 PMID:32969598 PCS 2/3 P HPO:probinson[2021-02-19];HPO:probinson[2021-02-19] @@ -134474,6 +135869,46 @@ OMIM:617388 Autoinflammation with arthritis and dyskeratosis HP:0003237 PMID:27 OMIM:609808 Hamartoma, precalcaneal congenital fibrolipomatous HP:0010566 OMIM:609808 IEA P HPO:skoehler[2015-01-27] OMIM:609808 Hamartoma, precalcaneal congenital fibrolipomatous HP:0000006 OMIM:609808 IEA I HPO:iea[2009-02-17] OMIM:609808 Hamartoma, precalcaneal congenital fibrolipomatous HP:0000951 OMIM:609808 IEA P HPO:iea[2009-02-17] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000286 PMID:36604604 PCS 1/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0003577 PMID:36604604 PCS 1/3 C HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0001256 PMID:34379057 PCS 2/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000486 PMID:34379057;PMID:34764295 PCS 3/6 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0002188 PMID:34379057 PCS 1/2 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0001250 PMID:34764295 PCS 1/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0002360 PMID:34379057;PMID:36604604 PCS 5/6 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0001252 PMID:36604604 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0002020 PMID:34379057 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0003593 PMID:34379057;PMID:36604604 PCS 5/6 C HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0010863 PMID:36604604 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0001270 PMID:34379057;PMID:34764295 PCS 6/6 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0010864 PMID:34379057;PMID:34764295;PMID:36604604 PCS 7/9 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0001508 PMID:34379057 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000716 PMID:36604604 PCS 1/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000319 PMID:34379057 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0011463 PMID:34764295 PCS 3/3 C HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000718 PMID:34764295 PCS 2/2 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0005709 PMID:34379057 PCS 2/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000733 PMID:34764295 PCS 1/1 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000736 PMID:34379057 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000219 PMID:34379057 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0008897 PMID:34379057 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000218 PMID:34379057 PCS 1/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000752 PMID:34379057 PCS 1/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0001324 PMID:36604604 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0002017 PMID:34379057 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0001320 PMID:34379057 PCS 1/2 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0011808 PMID:36604604 PCS 2/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000750 PMID:34379057;PMID:34764295 PCS 6/6 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0001344 PMID:36604604 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0002079 PMID:34379057 PCS 1/2 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0001684 PMID:34379057 PCS 1/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0033838 PMID:36604604 PCS 1/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0005484 PMID:34379057;PMID:34764295;PMID:36604604 PCS 5/9 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0002370 PMID:36604604 PCS 3/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0007010 PMID:34379057;PMID:34764295 PCS 6/6 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000729 PMID:34764295 PCS 1/3 P HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0000007 PMID:34379057 PCS I HPO:probinson[2023-06-15] +OMIM:620242 Neurodevelopmental disorder with poor growth and behavioral abnormalities HP:0007018 PMID:34764295;PMID:36604604 PCS 5/5 P HPO:probinson[2023-06-15] OMIM:610381 Cone-Rod dystrophy 11 HP:0007924 OMIM:610381 TAS P HPO:skoehler[2015-08-16] OMIM:610381 Cone-Rod dystrophy 11 HP:0000980 OMIM:610381 IEA P HPO:skoehler[2018-10-08] OMIM:610381 Cone-Rod dystrophy 11 HP:0000608 PMID:15028672 PCS P HPO:probinson[2013-03-30] @@ -134894,10 +136329,6 @@ OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristi OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 HP:0001837 PMID:27040691 PCS 1/13 P HPO:probinson[2019-09-03] OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 HP:0000426 PMID:27040692 PCS P HPO:probinson[2017-06-24] OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 HP:0001558 PMID:27040691 PCS HP:0030674 1/13 P HPO:probinson[2019-09-03] -OMIM:147900 Joint laxity, familial HP:0001374 OMIM:147900 IEA P HPO:iea[2009-02-17] -OMIM:147900 Joint laxity, familial HP:0001388 OMIM:147900 IEA P HPO:iea[2009-02-17] -OMIM:147900 Joint laxity, familial HP:0031869 OMIM:147900 IEA P HPO:skoehler[2018-10-08] -OMIM:147900 Joint laxity, familial HP:0000006 OMIM:147900 IEA I HPO:iea[2009-02-17] OMIM:614871 Peroxisome biogenesis disorder 6B HP:0001410 OMIM:614871 TAS P HPO:probinson[2013-02-24] OMIM:614871 Peroxisome biogenesis disorder 6B HP:0001272 PMID:20695019;PMID:19127411 PCS 3/3 P HPO:skoehler[2015-01-28];HPO:probinson[2022-11-01];HPO:probinson[2022-11-01] OMIM:614871 Peroxisome biogenesis disorder 6B HP:0003693 PMID:20695019 PCS 1/2 P HPO:skoehler[2015-01-28];HPO:probinson[2022-11-01] @@ -135403,8 +136834,10 @@ OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0012469 PMID:30244534 PCS 1/5 P HPO:probinson[2021-10-21] OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0031491 PMID:30244534 PCS 1/5 P HPO:probinson[2021-10-21] OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0000319 PMID:30244534 PCS 1/5 P HPO:probinson[2021-10-21] +OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0000817 PMID:27346735 PCS 1/1 P HPO:probinson[2021-10-21] OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0012450 PMID:27346735 PCS 1/1 P HPO:probinson[2021-10-21] OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0000954 PMID:30244534 PCS 1/5 P HPO:probinson[2021-10-21] +OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0000733 PMID:30244534 PCS 1/5 P HPO:probinson[2021-10-21] OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0025336 PMID:30244534 PCS 2/5 P HPO:probinson[2021-10-21] OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0000212 PMID:30244534 PCS 1/5 P HPO:probinson[2021-10-21] OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0001265 PMID:30244534 PCS 1/5 P HPO:probinson[2021-10-21] @@ -135511,6 +136944,7 @@ OMIM:618050 Mental retardation, autosomal dominant 57 HP:0001263 PMID:27479843 OMIM:618050 Mental retardation, autosomal dominant 57 HP:0005780 PMID:27479843 PCS 1/2 P HPO:probinson[2022-05-31] OMIM:618050 Mental retardation, autosomal dominant 57 HP:0011800 PMID:27479843 PCS 1/2 P HPO:probinson[2022-05-31] OMIM:618050 Mental retardation, autosomal dominant 57 HP:0000729 OMIM:618050 IEA P HPO:skoehler[2019-02-15] +OMIM:618050 Mental retardation, autosomal dominant 57 HP:0000722 OMIM:618050 IEA P HPO:skoehler[2019-02-15] OMIM:618050 Mental retardation, autosomal dominant 57 HP:0000006 PMID:27479843 PCS I HPO:skoehler[2019-04-18];HPO:probinson[2022-05-31] OMIM:618050 Mental retardation, autosomal dominant 57 HP:0002883 PMID:27479843 PCS 1/2 P HPO:probinson[2022-05-31] OMIM:618050 Mental retardation, autosomal dominant 57 HP:0000582 PMID:27479843 PCS 2/2 P HPO:skoehler[2019-02-15];HPO:probinson[2022-05-31] @@ -135599,6 +137033,7 @@ OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0001627 OMIM:613675 OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0003745 OMIM:613675 PCS I HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0000256 PMID:20543202 PCS 9/23 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0001249 OMIM:613675 TAS 38% P HPO:skoehler[2012-11-18] +OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0001067 PMID:20543202 PCS 25/29 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0000098 PMID:20543202 PCS 13/28 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0000475 PMID:20543202 PCS 9/29 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0002650 PMID:20543202 PCS 12/28 P HPO:iea[2012-04-24] @@ -135608,11 +137043,13 @@ OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0001382 PMID:205432 OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0002011 PMID:20543202 PCS 5/29 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0001263 PMID:20543202 PCS 14/29 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0100697 PMID:20543202 PCS 6/29 P HPO:iea[2012-04-24] +OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0100698 PMID:20543202 PCS 22/29 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0012062 PMID:20543202 PCS 8/16 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0000767 PMID:20543202 PCS 9/29 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0001833 OMIM:613675 TAS 46% P HPO:skoehler[2012-11-18] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0030052 OMIM:613675 TAS P HPO:skoehler[2014-09-21] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0009732 PMID:20543202 PCS 22/29 P HPO:iea[2012-04-24] +OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0009735 PMID:20543202 PCS 9/14 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0007018 PMID:20543202 PCS 8/24 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0009734 PMID:20543202 PCS 5/27 P HPO:iea[2012-04-24] OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb HP:0009737 PMID:20543202 PCS 27/29 P HPO:iea[2012-04-24] @@ -135731,30 +137168,31 @@ OMIM:616719 Spinocerebellar ataxia, autosomal recessive 21 HP:0012852 PMID:2658 OMIM:616719 Spinocerebellar ataxia, autosomal recessive 21 HP:0000007 PMID:26581903 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-02-04] OMIM:616719 Spinocerebellar ataxia, autosomal recessive 21 HP:0001257 PMID:26581903 PCS 1/3 P HPO:skoehler[2015-12-30];HPO:probinson[2023-02-04] OMIM:616719 Spinocerebellar ataxia, autosomal recessive 21 HP:0001337 PMID:26581903 PCS 3/3 P HPO:skoehler[2015-12-30];HPO:probinson[2023-02-04] -OMIM:603472 Neuronal intranuclear inclusion disease HP:0001265 PMID:27797808 PCS P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0003431 PMID:27797808 PCS 40/43 P HPO:probinson[2020-06-14] -OMIM:603472 Neuronal intranuclear inclusion disease HP:0001288 PMID:27797808 PCS P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0001250 PMID:27797808 PCS 6/57 P HPO:probinson[2020-06-14] -OMIM:603472 Neuronal intranuclear inclusion disease HP:0001260 PMID:27797808 PCS 2/57 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] -OMIM:603472 Neuronal intranuclear inclusion disease HP:0002352 PMID:27797808 PCS 47/51 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0003474 PMID:27797808 PCS P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] -OMIM:603472 Neuronal intranuclear inclusion disease HP:0002572 PMID:27797808 PCS 12/57 P HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0002063 PMID:27797808 PCS 10/56 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0000020 PMID:27797808 PCS 22/52 P HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0001251 PMID:27797808 PCS 20/56 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0012229 PMID:27797808 PCS 5/39 P HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0100543 PMID:27797808 PCS 18/41 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0007185 PMID:27797808 PCS 20/57 P HPO:probinson[2020-06-14] -OMIM:603472 Neuronal intranuclear inclusion disease HP:0000726 PMID:27797808 PCS 45/57 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0000616 PMID:27797808 PCS 24/39 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0002119 PMID:27797808 PCS 47/51 P HPO:probinson[2020-06-14] -OMIM:603472 Neuronal intranuclear inclusion disease HP:0002922 PMID:27797808 PCS 23/39 P HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0001324 PMID:27797808 PCS 28/56 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0003448 PMID:27797808 PCS 33/43 P HPO:probinson[2020-06-14] +OMIM:603472 Neuronal intranuclear inclusion disease HP:0003403 PMID:27797808 PCS 11/42 P HPO:probinson[2020-06-14] +OMIM:603472 Neuronal intranuclear inclusion disease HP:0001265 PMID:27797808 PCS P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] +OMIM:603472 Neuronal intranuclear inclusion disease HP:0001288 PMID:27797808 PCS P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] +OMIM:603472 Neuronal intranuclear inclusion disease HP:0001260 PMID:27797808 PCS 2/57 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] +OMIM:603472 Neuronal intranuclear inclusion disease HP:0002352 PMID:27797808 PCS 47/51 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] +OMIM:603472 Neuronal intranuclear inclusion disease HP:0002572 PMID:27797808 PCS 12/57 P HPO:probinson[2020-06-14] +OMIM:603472 Neuronal intranuclear inclusion disease HP:0000708 PMID:27797808 PCS 12/56 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] +OMIM:603472 Neuronal intranuclear inclusion disease HP:0000726 PMID:27797808 PCS 45/57 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] +OMIM:603472 Neuronal intranuclear inclusion disease HP:0002922 PMID:27797808 PCS 23/39 P HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0001279 PMID:27797808 PCS 3/57 P HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0000006 PMID:27797808 PCS I HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] OMIM:603472 Neuronal intranuclear inclusion disease HP:0001337 PMID:27797808 PCS 12/57 P HPO:probinson[2020-06-14];HPO:probinson[2020-06-14] -OMIM:603472 Neuronal intranuclear inclusion disease HP:0003403 PMID:27797808 PCS 11/42 P HPO:probinson[2020-06-14] OMIM:228400 Fever, familial lifelong persistent HP:0000007 OMIM:228400 TAS I HPO:probinson[2009-02-17] OMIM:228400 Fever, familial lifelong persistent HP:0001945 OMIM:228400 TAS HP:0040280 P HPO:probinson[2009-02-17];HPO:lccarmody[2018-10-04];HP:probinson[2019-01-03] OMIM:228400 Fever, familial lifelong persistent NOT HP:0000971 PMID:4951423 PCS P HPO:lccarmody[2018-10-04];HPO:lccarmody[2018-10-04] @@ -136120,6 +137558,7 @@ OMIM:162200 Neurofibromatosis, type I HP:0000256 PMID:12151887 PCS 25% P HPO OMIM:162200 Neurofibromatosis, type I HP:0001920 PMID:10204844 PCS 3/523 P HPO:iea[2009-02-17] OMIM:162200 Neurofibromatosis, type I HP:0002897 OMIM:162200 IEA P HPO:iea[2009-02-17] OMIM:162200 Neurofibromatosis, type I HP:0002410 OMIM:162200 IEA P HPO:iea[2009-02-17] +OMIM:162200 Neurofibromatosis, type I HP:0001067 PMID:10204844 PCS 217/365 P HPO:iea[2018-03-13] OMIM:162200 Neurofibromatosis, type I HP:0002650 PMID:12151887 PCS 20% P HPO:iea[2009-02-17] OMIM:162200 Neurofibromatosis, type I HP:0100697 OMIM:162200 PCS P HPO:skoehler[2012-10-17];HPO:probinson[2019-01-22] OMIM:162200 Neurofibromatosis, type I HP:0009592 OMIM:162200 IEA P HPO:skoehler[2010-06-20] @@ -136127,6 +137566,7 @@ OMIM:162200 Neurofibromatosis, type I HP:0000822 OMIM:162200 IEA P HPO:iea[ OMIM:162200 Neurofibromatosis, type I HP:0000767 PMID:29618358 PCS 2/112 P HPO:probinson[2019-01-22] OMIM:162200 Neurofibromatosis, type I HP:0030052 PMID:10204844 PCS HP:0011463 151/357 P HPO:skoehler[2014-09-21] OMIM:162200 Neurofibromatosis, type I HP:0009732 PMID:23035791 PCS 71/171 P HPO:iea[2009-02-17] +OMIM:162200 Neurofibromatosis, type I HP:0009735 PMID:10204844 PCS 11/300 P HPO:iea[2009-02-17] OMIM:162200 Neurofibromatosis, type I HP:0009734 PMID:10204844 PCS 25/300 P HPO:iea[2009-02-17] OMIM:162200 Neurofibromatosis, type I HP:0000006 PMID:10204844 PCS I HPO:probinson[2009-02-17] OMIM:162200 Neurofibromatosis, type I HP:0000501 PMID:22138687 PCS P HPO:iea[2009-02-17] @@ -136323,6 +137763,33 @@ OMIM:618907 Silver-Russell syndrome 4 HP:0008872 PMID:28796236 PCS HP:0003593 4 OMIM:618907 Silver-Russell syndrome 4 HP:0040196 PMID:28796236 PCS 3/5 P HPO:probinson[2020-08-12] OMIM:618907 Silver-Russell syndrome 4 HP:0000006 PMID:28796236 PCS I HPO:probinson[2020-08-12];HPO:probinson[2020-08-12] OMIM:618907 Silver-Russell syndrome 4 HP:0000325 PMID:28796236 PCS 5/5 P HPO:probinson[2020-08-12] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0000341 PMID:34424553 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0002521 PMID:26742501 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0010804 PMID:26742501 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0003236 PMID:30237576 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0002169 PMID:30237576 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0000486 PMID:26742501 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0002188 PMID:30237576;PMID:26742501 PCS 2/2 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0001371 PMID:30237576 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0002120 PMID:34424553 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0001252 PMID:30237576;PMID:26742501;PMID:34424553 PCS 3/3 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0003593 PMID:26742501;PMID:34424553 PCS 2/2 C HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0100295 PMID:26742501 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0012444 PMID:30237576 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0033725 PMID:30237576;PMID:26742501;PMID:34424553 PCS 3/3 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0012469 PMID:26742501 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0001508 PMID:26742501 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0000319 PMID:34424553 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0011220 PMID:34424553 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0000253 PMID:26742501 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0000252 PMID:30237576;PMID:34424553 PCS 2/2 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0000750 PMID:30237576 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0001263 PMID:30237576;PMID:26742501;PMID:34424553 PCS 3/3 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0005280 PMID:34424553 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0000007 PMID:26742501 PCS I HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0007359 PMID:34424553 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0000347 PMID:26742501 PCS 1/1 P HPO:probinson[2023-06-16] +OMIM:620240 Developmental delay with hypotonia, myopathy, and brain abnormalities HP:0000248 PMID:26742501 PCS 1/1 P HPO:probinson[2023-06-16] OMIM:300373 Osteopathia striata with cranial sclerosis HP:0000286 OMIM:300373 TAS P HPO:probinson[2009-02-18] OMIM:300373 Osteopathia striata with cranial sclerosis HP:0002025 OMIM:300373 IEA HP:0040284 P HPO:skoehler[2010-06-20] OMIM:300373 Osteopathia striata with cranial sclerosis HP:0003038 OMIM:300373 IEA P HPO:skoehler[2009-02-21] @@ -136360,6 +137827,7 @@ OMIM:300373 Osteopathia striata with cranial sclerosis HP:0002104 OMIM:300373 T OMIM:300373 Osteopathia striata with cranial sclerosis HP:0000204 OMIM:300373 TAS P HPO:probinson[2009-02-17] OMIM:300373 Osteopathia striata with cranial sclerosis HP:0000369 OMIM:300373 TAS P HPO:probinson[2009-02-19] OMIM:300373 Osteopathia striata with cranial sclerosis HP:0000885 OMIM:300373 TAS P HPO:skoehler[2009-02-21] +OMIM:300373 Osteopathia striata with cranial sclerosis HP:0001611 OMIM:300373 IEA P HPO:skoehler[2010-06-18] OMIM:300373 Osteopathia striata with cranial sclerosis HP:0000341 OMIM:300373 TAS P HPO:probinson[2009-02-19] OMIM:300373 Osteopathia striata with cranial sclerosis HP:0010628 OMIM:300373 TAS P HPO:skoehler[2010-06-18] OMIM:300373 Osteopathia striata with cranial sclerosis HP:0005830 OMIM:300373 TAS P HPO:skoehler[2010-06-18] @@ -136727,6 +138195,7 @@ OMIM:615006 Developmental and epileptic encephalopathy 15 HP:0032794 PMID:23252 OMIM:615006 Developmental and epileptic encephalopathy 15 HP:0011344 PMID:23252400 PCS 4/4 P HPO:probinson[2023-03-08] OMIM:615006 Developmental and epileptic encephalopathy 15 HP:0011097 OMIM:615006 IEA 4/4 P HPO:skoehler[2013-01-11];HPO:probinson[2023-03-08] OMIM:615006 Developmental and epileptic encephalopathy 15 HP:0000737 OMIM:615006 IEA 1/1 P HPO:skoehler[2013-01-11] +OMIM:615006 Developmental and epileptic encephalopathy 15 HP:0000817 OMIM:615006 IEA 1/1 P HPO:skoehler[2013-01-11];HPO:probinson[2023-03-08] OMIM:615006 Developmental and epileptic encephalopathy 15 HP:0032792 PMID:23252400 PCS 1/4 P HPO:probinson[2023-03-08] OMIM:615006 Developmental and epileptic encephalopathy 15 HP:0000007 PMID:23252400 PCS I HPO:skoehler[2013-01-11];HPO:probinson[2023-03-08] OMIM:615006 Developmental and epileptic encephalopathy 15 HP:0200134 OMIM:615006 IEA 4/4 P HPO:skoehler[2015-01-19];HPO:probinson[2023-03-08] @@ -136884,6 +138353,7 @@ OMIM:277460 Ataxia with isolated vitamin E deficiency HP:0001288 PMID:12470185 OMIM:277460 Ataxia with isolated vitamin E deficiency HP:0003124 OMIM:277460 TAS P HPO:probinson[2013-12-15] OMIM:277460 Ataxia with isolated vitamin E deficiency HP:0100291 PMID:9931538 PCS 1/1 P HPO:probinson[2022-04-24] OMIM:277460 Ataxia with isolated vitamin E deficiency HP:0001272 PMID:12470185 PCS 1/1 P HPO:probinson[2022-04-24] +OMIM:277460 Ataxia with isolated vitamin E deficiency HP:0030223 PMID:9931538 PCS 1/1 P HPO:probinson[2022-04-24] OMIM:277460 Ataxia with isolated vitamin E deficiency HP:0001260 PMID:9931538 PCS 1/1 P HPO:probinson[2022-04-24] OMIM:277460 Ataxia with isolated vitamin E deficiency HP:0003141 OMIM:277460 TAS P HPO:probinson[2013-12-15] OMIM:277460 Ataxia with isolated vitamin E deficiency HP:0001284 OMIM:277460 TAS P HPO:skoehler[2009-02-17] @@ -136901,13 +138371,13 @@ OMIM:615774 Oocyte maturation defect HP:0008222 PMID:24670168 PCS 4/4 P HPO: OMIM:615774 Oocyte maturation defect HP:0011462 PMID:24670168 PCS 4/4 C HPO:probinson[2022-03-21] OMIM:615774 Oocyte maturation defect HP:0000007 PMID:24670168 PCS I HPO:skoehler[2014-05-04];HPO:probinson[2022-03-21] OMIM:603116 CDAGS syndrome HP:0000143 OMIM:603116 IEA P HPO:iea[2009-02-17] -OMIM:603116 Cdags syndrome HP:0003577 PMID:15924278 PCS 7/7 C HPO:probinson[2022-05-07] +OMIM:603116 CDAGS syndrome HP:0003577 PMID:15924278 PCS 7/7 C HPO:probinson[2022-05-07] OMIM:603116 CDAGS syndrome HP:0002023 PMID:15924278 PCS 7/7 P HPO:iea[2009-02-17];HPO:probinson[2022-05-07] OMIM:603116 CDAGS syndrome HP:0004443 PMID:15924278 PCS 2/5 P HPO:probinson[2012-07-19];HPO:probinson[2022-05-07] OMIM:603116 CDAGS syndrome HP:0004442 PMID:15924278 PCS 2/5 P HPO:probinson[2012-07-19];HPO:probinson[2022-05-07] OMIM:603116 CDAGS syndrome HP:0004440 PMID:15924278 PCS 5/5 P HPO:probinson[2009-02-17];HPO:probinson[2022-05-07] -OMIM:603116 Cdags syndrome HP:0045075 OMIM:603116 TAS P HPO:probinson[2022-05-07] -OMIM:603116 Cdags syndrome HP:0000239 PMID:15924278 PCS 6/6 P HPO:probinson[2022-05-07] +OMIM:603116 CDAGS syndrome HP:0045075 OMIM:603116 TAS P HPO:probinson[2022-05-07] +OMIM:603116 CDAGS syndrome HP:0000239 PMID:15924278 PCS 6/6 P HPO:probinson[2022-05-07] OMIM:603116 CDAGS syndrome HP:0000656 OMIM:603116 IEA P HPO:iea[2009-02-17] OMIM:603116 CDAGS syndrome HP:0200044 PMID:15924278 PCS 2/5 P HPO:skoehler[2009-02-17];HPO:probinson[2022-05-07] OMIM:603116 CDAGS syndrome HP:0000653 OMIM:603116 IEA P HPO:iea[2009-02-17] @@ -137013,6 +138483,7 @@ OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis HP:0033725 P OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis HP:0001508 PMID:29423877 PCS 3/3 P HPO:skoehler[2019-04-18];HPO:probinson[2022-03-16] OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis HP:0002719 PMID:32435055 PCS 1/1 P HPO:probinson[2022-03-19] OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis HP:0000737 PMID:29423877 PCS 3/3 P HPO:skoehler[2019-02-15];HPO:probinson[2022-03-16] +OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis HP:0000817 PMID:29423877 PCS 3/3 P HPO:probinson[2022-03-16] OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis HP:0001404 OMIM:618278 IEA P HPO:skoehler[2019-09-07] OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis HP:0002878 PMID:32435055 PCS 1/1 P HPO:probinson[2022-03-19] OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis HP:0002119 PMID:32435055 PCS 1/1 P HPO:probinson[2022-03-19] @@ -137167,12 +138638,14 @@ OMIM:236400 Humeroradial synostosishumeroradial/multiple synostosis syndrome HP OMIM:236400 Humeroradial synostosishumeroradial/multiple synostosis syndrome HP:0000007 OMIM:236400 IEA I HPO:iea[2009-02-17] OMIM:236400 Humeroradial synostosishumeroradial/multiple synostosis syndrome HP:0003041 OMIM:236400 IEA P HPO:iea[2009-02-17] OMIM:236400 Humeroradial synostosishumeroradial/multiple synostosis syndrome HP:0000248 PMID:2669480 PCS P HPO:lccarmody[2018-10-05] -OMIM:241850 Hypothyroidism, athyroidal, with spiky hair and cleft palate HP:0000175 OMIM:241850 IEA P HPO:iea[2009-02-17] -OMIM:241850 Hypothyroidism, athyroidal, with spiky hair and cleft palate HP:0001561 OMIM:241850 IEA P HPO:iea[2009-02-17] -OMIM:241850 Hypothyroidism, athyroidal, with spiky hair and cleft palate HP:0000453 OMIM:241850 IEA P HPO:iea[2009-02-17] -OMIM:241850 Hypothyroidism, athyroidal, with spiky hair and cleft palate HP:0000007 OMIM:241850 IEA I HPO:iea[2009-02-17] -OMIM:241850 Hypothyroidism, athyroidal, with spiky hair and cleft palate HP:0010564 OMIM:241850 IEA P HPO:skoehler[2010-06-18] -OMIM:241850 Hypothyroidism, athyroidal, with spiky hair and cleft palate HP:0008191 OMIM:241850 IEA P HPO:iea[2009-02-17] +OMIM:241850 Bamforth-Lazarus syndrome HP:0000175 PMID:9697705 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2023-06-10] +OMIM:241850 Bamforth-Lazarus syndrome HP:0001561 OMIM:241850 IEA P HPO:iea[2009-02-17] +OMIM:241850 Bamforth-Lazarus syndrome HP:0003577 PMID:9697705 PCS 2/2 C HPO:probinson[2023-06-10] +OMIM:241850 Bamforth-Lazarus syndrome HP:0000007 PMID:9697705 PCS I HPO:iea[2009-02-17];HPO:probinson[2023-06-10] +OMIM:241850 Bamforth-Lazarus syndrome HP:0010564 PMID:9697705 PCS 2/2 P HPO:skoehler[2010-06-18];HPO:probinson[2023-06-10] +OMIM:241850 Bamforth-Lazarus syndrome HP:0000851 PMID:9697705 PCS 2/2 P HPO:probinson[2023-06-10] +OMIM:241850 Bamforth-Lazarus syndrome HP:0008191 PMID:9697705 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2023-06-10] +OMIM:241850 Bamforth-Lazarus syndrome HP:0004502 PMID:9697705 PCS 2/2 P HPO:probinson[2023-06-10] OMIM:113610 Branchial myoclonus with spastic paraparesis and cerebellar ataxia HP:0002078 OMIM:113610 TAS P HPO:probinson[2009-02-17] OMIM:113610 Branchial myoclonus with spastic paraparesis and cerebellar ataxia HP:0000639 OMIM:113610 TAS P HPO:probinson[2009-02-17] OMIM:113610 Branchial myoclonus with spastic paraparesis and cerebellar ataxia HP:0006827 OMIM:113610 TAS P HPO:probinson[2013-12-18] @@ -137601,6 +139074,7 @@ OMIM:617822 Alkuraya-Kucinskas syndrome HP:0001760 OMIM:617822 IEA P HPO:sk OMIM:617822 Alkuraya-Kucinskas syndrome HP:0001762 PMID:25558065 PCS 1/1 P HPO:skoehler[2018-10-08];HPO:probinson[2023-01-22] OMIM:617822 Alkuraya-Kucinskas syndrome HP:0001321 OMIM:617822 IEA P HPO:skoehler[2018-10-08] OMIM:617822 Alkuraya-Kucinskas syndrome HP:0005280 OMIM:617822 IEA P HPO:skoehler[2018-10-08] +OMIM:617822 Alkuraya-Kucinskas syndrome HP:0000708 OMIM:617822 IEA P HPO:skoehler[2019-04-18] OMIM:617822 Alkuraya-Kucinskas syndrome HP:0007370 OMIM:617822 IEA P HPO:skoehler[2018-10-08] OMIM:617822 Alkuraya-Kucinskas syndrome HP:0002804 OMIM:617822 IEA P HPO:skoehler[2019-04-18] OMIM:617822 Alkuraya-Kucinskas syndrome HP:0001357 OMIM:617822 IEA P HPO:skoehler[2019-04-18] @@ -137866,13 +139340,6 @@ OMIM:617017 Charcot-Marie-Tooth disease, axonal, type 2T HP:0025710 PMID:269918 OMIM:617017 Charcot-Marie-Tooth disease, axonal, type 2T HP:0000006 OMIM:617017 TAS I HPO:skoehler[2017-07-13] OMIM:617017 Charcot-Marie-Tooth disease, axonal, type 2T HP:0003677 PMID:26991897 PCS C HPO:skoehler[2017-07-13];HPO:probinson[2023-02-07] OMIM:617017 Charcot-Marie-Tooth disease, axonal, type 2T HP:0008944 PMID:26991897 PCS 10/10 P HPO:probinson[2023-02-07] -OMIM:144600 Hyperlipoproteinemia, type IV HP:0002155 OMIM:144600 IEA P HPO:iea[2009-02-17] -OMIM:144600 Hyperlipoproteinemia, type IV HP:0003362 OMIM:144600 IEA P HPO:iea[2009-02-17] -OMIM:144600 Hyperlipoproteinemia, type IV HP:0040075 OMIM:144600 IEA P HPO:skoehler[2018-10-08] -OMIM:144600 Hyperlipoproteinemia, type IV HP:0004416 OMIM:144600 IEA P HPO:iea[2009-02-17] -OMIM:144600 Hyperlipoproteinemia, type IV HP:0000006 OMIM:144600 IEA I HPO:iea[2009-02-17] -OMIM:144600 Hyperlipoproteinemia, type IV HP:0001039 OMIM:144600 IEA P HPO:iea[2009-02-17] -OMIM:144600 Hyperlipoproteinemia, type IV HP:0001952 OMIM:144600 IEA P HPO:iea[2009-02-17] OMIM:161480 Nasal bones, absence of HP:0000271 OMIM:161480 IEA P HPO:iea[2009-02-17] OMIM:161480 Nasal bones, absence of HP:0002000 OMIM:161480 TAS P HPO:skoehler[2017-07-13] OMIM:161480 Nasal bones, absence of HP:0009933 OMIM:161480 TAS P HPO:skoehler[2017-07-13] @@ -137961,6 +139428,7 @@ OMIM:614250 Narcolepsy 7 HP:0001513 PMID:21907016 PCS 5/6 P HPO:skoehler[201 OMIM:614250 Narcolepsy 7 HP:0000006 PMID:21907016 PCS I HPO:skoehler[2012-10-17];HPO:probinson[2023-04-03] DECIPHER:32 22q11 duplication syndrome HP:0000506 DECIPHER:32 IEA P HPO:skoehler[2013-05-29] DECIPHER:32 22q11 duplication syndrome HP:0001249 DECIPHER:32 IEA P HPO:skoehler[2013-05-29] +DECIPHER:32 22q11 duplication syndrome HP:0001611 DECIPHER:32 IEA P HPO:skoehler[2013-05-29] OMIM:619774 Immunodeficiency 96 HP:0002850 PMID:30395541 PCS 5/5 P HPO:probinson[2022-05-29];HPO:probinson[2022-05-29] OMIM:619774 Immunodeficiency 96 HP:0002783 PMID:1581963 PCS 1/1 P HPO:probinson[2022-05-29];HPO:probinson[2022-05-29] OMIM:619774 Immunodeficiency 96 HP:0030253 PMID:1581963 PCS 1/1 P HPO:probinson[2022-05-29];HPO:probinson[2022-05-29] @@ -138027,6 +139495,7 @@ OMIM:300978 Tonne-Kalscheuer syndrome HP:0000750 PMID:25735484 PCS 3/3 P HPO OMIM:300978 Tonne-Kalscheuer syndrome HP:0000431 PMID:25735484 PCS 1/3 P HPO:skoehler[2017-07-13];HPO:probinson[2022-10-18] OMIM:300978 Tonne-Kalscheuer syndrome HP:0000272 OMIM:300978 IEA P HPO:skoehler[2019-02-22] OMIM:300978 Tonne-Kalscheuer syndrome HP:0011304 OMIM:300978 IEA P HPO:skoehler[2019-02-22] +OMIM:300978 Tonne-Kalscheuer syndrome HP:0000708 OMIM:300978 TAS P HPO:skoehler[2017-07-13] OMIM:300978 Tonne-Kalscheuer syndrome HP:0000426 OMIM:300978 IEA P HPO:skoehler[2019-02-22] OMIM:300978 Tonne-Kalscheuer syndrome HP:0100716 OMIM:300978 IEA P HPO:skoehler[2019-02-22] OMIM:300978 Tonne-Kalscheuer syndrome HP:0001510 OMIM:300978 IEA P HPO:skoehler[2019-02-22] @@ -138139,29 +139608,33 @@ OMIM:307030 Glycerol kinase deficiency HP:0001993 OMIM:307030 TAS P HPO:sko OMIM:307030 Glycerol kinase deficiency HP:0000486 OMIM:307030 TAS P HPO:skoehler[2014-01-28] OMIM:307030 Glycerol kinase deficiency HP:0004322 OMIM:307030 TAS P HPO:skoehler[2012-10-17] OMIM:307030 Glycerol kinase deficiency HP:0003198 OMIM:307030 IEA P HPO:iea[2009-02-17] -OMIM:307030 Glycerol kinase deficiency HP:0001250 OMIM:307030 TAS P HPO:skoehler[2012-10-17] +OMIM:307030 Glycerol kinase deficiency HP:0001250 PMID:8651297 PCS 1/4 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09] OMIM:307030 Glycerol kinase deficiency HP:0000939 OMIM:307030 IEA P HPO:iea[2009-02-17] OMIM:307030 Glycerol kinase deficiency HP:0007185 OMIM:307030 IEA P HPO:skoehler[2018-10-08] +OMIM:307030 Glycerol kinase deficiency HP:0011463 PMID:8651297 PCS 2/4 C HPO:probinson[2023-06-09] OMIM:307030 Glycerol kinase deficiency HP:0000316 OMIM:307030 TAS P HPO:skoehler[2012-10-17] OMIM:307030 Glycerol kinase deficiency HP:0001943 OMIM:307030 TAS P HPO:skoehler[2012-10-17] OMIM:307030 Glycerol kinase deficiency HP:0002714 OMIM:307030 TAS P HPO:skoehler[2012-10-17] OMIM:307030 Glycerol kinase deficiency HP:0002756 OMIM:307030 IEA P HPO:iea[2009-02-17] -OMIM:307030 Glycerol kinase deficiency HP:0001249 OMIM:307030 IEA P HPO:iea[2009-02-17] +OMIM:307030 Glycerol kinase deficiency HP:0001249 PMID:8651297 PCS 2/4 P HPO:iea[2009-02-17];HPO:probinson[2023-06-09] OMIM:307030 Glycerol kinase deficiency HP:0001942 OMIM:307030 IEA P HPO:iea[2009-02-17] +OMIM:307030 Glycerol kinase deficiency HP:0003621 PMID:8651297 PCS 1/4 C HPO:probinson[2023-06-09] OMIM:307030 Glycerol kinase deficiency HP:0002155 OMIM:307030 TAS P HPO:skoehler[2012-11-20] OMIM:307030 Glycerol kinase deficiency HP:0002572 OMIM:307030 IEA P HPO:iea[2009-02-17] -OMIM:307030 Glycerol kinase deficiency HP:0001263 OMIM:307030 TAS 20/20 P HPO:skoehler[2019-02-22];HPO:skoehler[2012-10-17] +OMIM:307030 Glycerol kinase deficiency HP:0001263 PMID:8651297;OMIM:307030 PCS 12/14 P HPO:skoehler[2012-10-17];HPO:probinson[2023-06-09];HPO:skoehler[2019-02-22] +OMIM:307030 Glycerol kinase deficiency HP:0003581 PMID:8651297 PCS 1/4 C HPO:probinson[2023-06-09] OMIM:307030 Glycerol kinase deficiency HP:0003560 OMIM:307030 TAS P HPO:skoehler[2012-11-20] -OMIM:307030 Glycerol kinase deficiency HP:0040301 OMIM:307030 TAS P HPO:skoehler[2017-07-13] +OMIM:307030 Glycerol kinase deficiency HP:0040301 PMID:8651297 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] OMIM:307030 Glycerol kinase deficiency HP:0008182 OMIM:307030 IEA P HPO:iea[2009-02-17] +OMIM:307030 Glycerol kinase deficiency HP:0006280 PMID:8651297 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:307030 Glycerol kinase deficiency HP:0040302 PMID:8651297 PCS 4/4 P HPO:probinson[2023-06-09] OMIM:307030 Glycerol kinase deficiency HP:0001518 OMIM:307030 TAS P HPO:skoehler[2012-10-17] OMIM:307030 Glycerol kinase deficiency HP:0001419 OMIM:307030 TAS I HPO:skoehler[2013-06-04] -OMIM:307030 Glycerol kinase deficiency HP:0001999 OMIM:307030 TAS HP:0040283 P HPO:skoehler[2012-11-20] OMIM:307030 Glycerol kinase deficiency HP:0000846 OMIM:307030 TAS 20/20 P HPO:skoehler[2012-11-20];HPO:iea[2009-02-17] OMIM:307030 Glycerol kinase deficiency HP:0002007 OMIM:307030 TAS P HPO:skoehler[2012-10-17] OMIM:307030 Glycerol kinase deficiency HP:0001510 OMIM:307030 IEA P HPO:iea[2009-02-17] -OMIM:307030 Glycerol kinase deficiency HP:0000369 OMIM:307030 TAS P HPO:skoehler[2012-10-17] OMIM:307030 Glycerol kinase deficiency HP:0000028 OMIM:307030 TAS HP:0040283 P HPO:skoehler[2012-11-20] +OMIM:307030 Glycerol kinase deficiency HP:0000369 OMIM:307030 TAS P HPO:skoehler[2012-10-17] OMIM:307030 Glycerol kinase deficiency HP:0001259 OMIM:307030 IEA P HPO:skoehler[2010-06-20] OMIM:618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity HP:0002960 PMID:31040184 PCS P HPO:skoehler[2019-09-07];HPO:probinson[2022-09-06] OMIM:618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity HP:0002014 PMID:31040184 PCS 2/2 P HPO:skoehler[2019-09-07];HPO:probinson[2022-09-06] @@ -138966,10 +140439,6 @@ OMIM:618697 Retinitis pigmentosa 87 with choroidal involvement HP:0007994 PMID: OMIM:618697 Retinitis pigmentosa 87 with choroidal involvement HP:0030505 PMID:21654732 PCS P HPO:probinson[2020-06-13] OMIM:618697 Retinitis pigmentosa 87 with choroidal involvement HP:0000006 PMID:21654732 PCS I HPO:probinson[2020-06-13];HPO:probinson[2020-06-13] OMIM:618697 Retinitis pigmentosa 87 with choroidal involvement HP:0000533 PMID:21654732 PCS P HPO:probinson[2020-06-13] -OMIM:126250 Distal osteosclerosis HP:0100774 OMIM:126250 IEA P HPO:skoehler[2018-10-08] -OMIM:126250 Distal osteosclerosis HP:0005464 OMIM:126250 TAS P HPO:iea[2014-04-22] -OMIM:126250 Distal osteosclerosis HP:0003034 OMIM:126250 TAS P HPO:iea[2014-04-22] -OMIM:126250 Distal osteosclerosis HP:0000006 OMIM:126250 IEA I HPO:iea[2009-02-17] OMIM:182280 Small cell cancer of the lung HP:0100526 OMIM:182280 TAS P HPO:iea[2009-02-17] OMIM:182280 Small cell cancer of the lung HP:0000006 OMIM:182280 TAS I HPO:iea[2009-02-17] OMIM:122750 Coxa vara HP:0002812 OMIM:122750 IEA P HPO:iea[2009-02-17] @@ -139448,14 +140917,23 @@ OMIM:131705 Transient bullous dermolysis of the newborn HP:0000007 OMIM:131705 OMIM:131705 Transient bullous dermolysis of the newborn HP:0008404 OMIM:131705 TAS P HPO:skoehler[2013-05-03] OMIM:131705 Transient bullous dermolysis of the newborn HP:0000006 PMID:9406826 PCS I HPO:probinson[2009-02-17];HPO:probinson[2022-09-30] OMIM:131705 Transient bullous dermolysis of the newborn HP:0003623 PMID:9406826 PCS 6/6 C HPO:probinson[2022-09-30] -OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0003236 OMIM:616687 TAS HP:0040283 P HPO:skoehler[2015-12-30] -OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0003676 OMIM:616687 TAS C HPO:skoehler[2017-07-13] -OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0001761 OMIM:616687 TAS P HPO:skoehler[2015-12-30] -OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0003828 OMIM:616687 TAS M HPO:skoehler[2017-07-13] -OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0001284 OMIM:616687 IEA P HPO:skoehler[2018-10-08] -OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0002936 OMIM:616687 TAS P HPO:skoehler[2015-12-30] -OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0000006 OMIM:616687 TAS I HPO:skoehler[2017-07-13] -OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0001765 OMIM:616687 TAS P HPO:skoehler[2015-12-30] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0003236 PMID:25125609 PCS 0/5 P HPO:skoehler[2015-12-30];HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0003676 PMID:25125609 PCS C HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0003431 PMID:25125609 PCS 5/5 P HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0003596 PMID:25125609 PCS 3/5 C HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0001761 PMID:25125609 PCS 4/5 P HPO:skoehler[2015-12-30];HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0008959 PMID:25125609 PCS 4/5 P HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0006937 PMID:25125609 PCS 5/5 P HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0009053 PMID:25125609 PCS 4/5 P HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0011463 PMID:25125609 PCS 1/5 C HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0011462 PMID:25125609 PCS 1/5 C HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0008994 PMID:25125609 PCS 1/5 P HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0009005 PMID:25125609 PCS 4/5 P HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0008997 PMID:25125609 PCS 0/5 P HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0006886 PMID:25125609 PCS 5/5 P HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0003438 PMID:25125609 PCS 5/5 P HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0000006 PMID:25125609 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y HP:0001765 PMID:25125609 PCS 4/5 P HPO:skoehler[2015-12-30];HPO:probinson[2023-06-09] OMIM:137360 GENOCHONDROMATOSIS HP:0030298 PMID:17632779 PCS P HPO:lccarmody[2018-06-26] OMIM:137360 GENOCHONDROMATOSIS HP:0030295 PMID:17632779 PCS P HPO:lccarmody[2018-06-26] OMIM:137360 GENOCHONDROMATOSIS HP:0000006 PMID:17632779 PCS I HPO:iea[2009-02-17] @@ -139582,6 +141060,7 @@ OMIM:617599 Epileptic encephalopathy, early infantile, 55 HP:0002187 OMIM:61759 OMIM:617599 Epileptic encephalopathy, early infantile, 55 HP:0003593 OMIM:617599 IEA C HPO:skoehler[2019-09-07] OMIM:617599 Epileptic encephalopathy, early infantile, 55 HP:0010841 OMIM:617599 IEA P HPO:skoehler[2018-10-08] OMIM:617599 Epileptic encephalopathy, early infantile, 55 HP:0100704 OMIM:617599 IEA P HPO:skoehler[2018-10-08] +OMIM:617599 Epileptic encephalopathy, early infantile, 55 HP:0000817 PMID:28334793 TAS P HPO:nvasilevsky[2019-03-29] OMIM:617599 Epileptic encephalopathy, early infantile, 55 HP:0001347 OMIM:617599 IEA P HPO:skoehler[2018-10-08] OMIM:617599 Epileptic encephalopathy, early infantile, 55 HP:0003623 OMIM:617599 IEA C HPO:skoehler[2018-10-08] OMIM:617599 Epileptic encephalopathy, early infantile, 55 HP:0008936 OMIM:617599 IEA P HPO:skoehler[2019-04-18] @@ -139728,28 +141207,29 @@ OMIM:190685 Down syndrome HP:0001631 PMID:15036797 PCS 17/58 P HPO:probinson OMIM:619588 Epidermolysis bullosa simplex 2B, generalized intermediate HP:0003577 PMID:1718160 PCS C HPO:probinson[2021-11-15] OMIM:619588 Epidermolysis bullosa simplex 2B, generalized intermediate HP:0007446 PMID:1718160 PCS 18/18 P HPO:probinson[2021-11-15];HPO:probinson[2021-11-15] OMIM:619588 Epidermolysis bullosa simplex 2B, generalized intermediate HP:0000006 PMID:1718160 PCS I HPO:probinson[2021-11-15] -OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000054 OMIM:616863 TAS P HPO:skoehler[2017-07-13] -OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000750 PMID:26365382 PCS 6/6 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000486 PMID:26365382 PCS P HPO:probinson[2017-06-19] -OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001344 OMIM:616863 IEA P HPO:skoehler[2018-10-08] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000243 PMID:26365382 PCS 1/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0002186 PMID:26365382 PCS 3/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001250 PMID:26365382 PCS 5/7 P HPO:probinson[2017-06-19] -OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000270 PMID:26365382 PCS 1/7 P HPO:probinson[2017-06-19] -OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001263 PMID:26365382 PCS 7/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001252 PMID:26365382 PCS 4/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001290 OMIM:616863 TAS P HPO:skoehler[2017-07-13] +OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000718 PMID:26365382 PCS 5/7 P HPO:probinson[2017-06-19] +OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000239 PMID:26365382 PCS 1/7 P HPO:probinson[2017-06-19] +OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001822 PMID:26365382 PCS 1/7 P HPO:probinson[2017-06-19] +OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001249 PMID:26365382 PCS 7/7 P HPO:probinson[2017-06-19] +OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000054 OMIM:616863 TAS P HPO:skoehler[2017-07-13] +OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000750 PMID:26365382 PCS 6/6 P HPO:probinson[2017-06-19] +OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001344 OMIM:616863 IEA P HPO:skoehler[2018-10-08] +OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0030223 PMID:26365382 PCS P HPO:probinson[2017-06-19] +OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000270 PMID:26365382 PCS 1/7 P HPO:probinson[2017-06-19] +OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001263 PMID:26365382 PCS 7/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0010536 PMID:26365382 PCS P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0012412 PMID:26365382 PCS 1/2 P HPO:probinson[2017-06-19] -OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000718 PMID:26365382 PCS 5/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000729 PMID:26365382 PCS 5/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0011098 OMIM:616863 TAS P HPO:skoehler[2017-07-13] -OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000239 PMID:26365382 PCS 1/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001999 OMIM:616863 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001822 PMID:26365382 PCS 1/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0004209 PMID:26365382 PCS 1/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000028 PMID:26365382 PCS 3/4 P HPO:probinson[2017-06-19] -OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0001249 PMID:26365382 PCS 7/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000369 PMID:26365382 PCS 1/7 P HPO:probinson[2017-06-19] OMIM:616863 Chromosome 16p13.2 deletion syndrome HP:0000006 PMID:26365382 PCS I HPO:probinson[2017-06-19] OMIM:308100 Ichthyosis, X-linked HP:0007759 PMID:29672931 PCS 0/35 P HPO:iea[2009-02-17];HPO:probinson[2022-05-04] @@ -139815,21 +141295,30 @@ OMIM:609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency HP:0001943 OM OMIM:609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency HP:0000007 OMIM:609016 TAS I HPO:nvasilevsky[2019-03-21];HPO:lccarmody[2019-03-21];HPO:skoehler[2019-03-21] OMIM:609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency HP:0001638 OMIM:609016 TAS HP:0003593 P HPO:probinson[2013-03-30] OMIM:609016 Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency HP:0001699 OMIM:609016 TAS P HPO:probinson[2013-03-30] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001276 OMIM:617228 TAS P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000252 OMIM:617228 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0011968 OMIM:617228 TAS P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001250 OMIM:617228 TAS P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0002151 OMIM:617228 TAS P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001263 OMIM:617228 TAS P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0030682 OMIM:617228 TAS P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0003593 OMIM:617228 TAS C HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001290 OMIM:617228 TAS P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001508 OMIM:617228 TAS P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000518 OMIM:617228 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001639 OMIM:617228 TAS P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000007 OMIM:617228 TAS I HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0003348 OMIM:617228 TAS P HPO:skoehler[2017-07-13] -OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0003128 OMIM:617228 TAS P HPO:skoehler[2017-07-13] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001276 PMID:27799064 PCS 1/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000154 PMID:27799064 PCS 1/4 P HPO:probinson[2023-06-09];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000252 PMID:27799064 PCS 2/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000463 PMID:27799064 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0011968 PMID:27799064 PCS 2/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001250 PMID:27799064 PCS 3/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000490 PMID:27799064 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001263 PMID:27799064 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0002151 PMID:27799064 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001252 PMID:27799064 PCS 4/4 P HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0003593 PMID:27799064 PCS 4/4 C HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0030682 PMID:27799064 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0011800 PMID:27799064 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0005280 PMID:27799064 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000518 PMID:27799064 PCS 1/3 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001508 PMID:27799064 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0001639 PMID:27799064 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0012240 PMID:27799064 PCS 3/3 P HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000007 PMID:27799064 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000414 PMID:27799064 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000347 PMID:27799064 PCS 1/4 P HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0003348 PMID:27799064 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0003128 PMID:27799064 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2023-06-09] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0003557 PMID:27799064 PCS 2/3 P HPO:probinson[2023-06-09] OMIM:611881 Glycogen storage disease XII HP:0000286 OMIM:611881 TAS P HPO:probinson[2012-07-27] OMIM:611881 Glycogen storage disease XII HP:0003236 PMID:8598869 PCS 1/1 P HPO:probinson[2022-10-01] OMIM:611881 Glycogen storage disease XII HP:0003555 PMID:8598869 PCS 1/1 P HPO:probinson[2022-10-01] @@ -140588,6 +142077,7 @@ OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0100024 PMID: OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0100023 PMID:27545675 PCS 1/6 P HPO:probinson[2021-10-03] OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0000729 PMID:27545675 PCS 3/6 P HPO:skoehler[2017-07-13];HPO:probinson[2021-10-03] OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0000601 PMID:27545675 PCS 1/6 P HPO:skoehler[2017-07-13];HPO:probinson[2021-10-03] +OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0000722 PMID:27545675 PCS 1/6 P HPO:skoehler[2017-07-13];HPO:probinson[2021-10-03] OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0007874 PMID:27545675 PCS 1/6 P HPO:probinson[2021-10-03] OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0002307 PMID:27545675 PCS 1/6 P HPO:probinson[2021-10-03] OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0000768 PMID:27545675 PCS 1/6 P HPO:skoehler[2019-04-18];HPO:probinson[2021-10-03] @@ -140596,6 +142086,7 @@ OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0001276 PMID: OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0001508 PMID:27545675 PCS 2/6 P HPO:skoehler[2017-07-13];HPO:probinson[2021-10-03] OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0000739 PMID:27545675 PCS 2/6 P HPO:skoehler[2017-07-13];HPO:probinson[2021-10-03] OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0012450 PMID:27545675 PCS 1/6 P HPO:probinson[2021-10-03] +OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0000733 PMID:27545675 PCS 1/6 P HPO:probinson[2021-10-03] OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0000218 PMID:27545675 PCS 2/6 P HPO:skoehler[2017-07-13];HPO:probinson[2021-10-03] OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0009765 PMID:27545675 PCS 3/6 P HPO:probinson[2021-10-03] OMIM:300986 Mental retardation, X-linked, syndromic, Bain type HP:0001423 PMID:27545675 PCS I HPO:skoehler[2017-07-13];HPO:probinson[2021-10-03] @@ -140920,6 +142411,7 @@ OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormali OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities HP:0001263 PMID:30612693 PCS 13/13 P HPO:skoehler[2019-09-07];HPO:probinson[2022-09-30] OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities HP:0008081 PMID:30612693 PCS 1/13 P HPO:probinson[2022-09-30] OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities HP:0000729 PMID:30612693 PCS 2/13 P HPO:skoehler[2019-09-07];HPO:probinson[2022-09-30] +OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities HP:0000722 PMID:30612693 PCS 1/13 P HPO:probinson[2022-09-30] OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities HP:0002944 PMID:30612693 PCS 1/13 P HPO:probinson[2022-09-30] OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities HP:0004209 PMID:30612693 PCS 1/13 P HPO:skoehler[2019-09-07];HPO:probinson[2022-09-30] OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities HP:0001257 PMID:30612693 PCS 4/13 P HPO:skoehler[2019-09-07];HPO:probinson[2022-09-30] @@ -141428,6 +142920,7 @@ OMIM:164300 Oculopharyngeal muscular dystrophy HP:0000508 PMID:34225694 IEA HP: OMIM:164300 Oculopharyngeal muscular dystrophy HP:0003701 PMID:34225694 PCS HP:0003584 1/1 P HPO:iea[2009-02-17];HPO:probinson[2022-06-04] OMIM:164300 Oculopharyngeal muscular dystrophy HP:0000006 PMID:9462747 PCS I HPO:iea[2009-02-17];HPO:probinson[2022-06-04] OMIM:164300 Oculopharyngeal muscular dystrophy HP:0000467 OMIM:164300 IEA P HPO:iea[2009-02-17] +OMIM:164300 Oculopharyngeal muscular dystrophy HP:0001611 PMID:34225694 PCS 1/1 P HPO:probinson[2022-06-04] OMIM:129200 Basan syndrome HP:0001056 PMID:24664640 PCS P HPO:skoehler[2010-06-20];HPO:probinson[2021-09-23] OMIM:129200 Basan syndrome HP:0001056 PMID:26932190 PCS HP:0003577 8/8 P HPO:probinson[2021-09-23] OMIM:129200 Basan syndrome HP:0001034 PMID:26932190 PCS 5/8 HP:0025292 P HPO:probinson[2021-09-23] @@ -141582,13 +143075,14 @@ OMIM:606053 Intellectual developmental disorder with autism and speech delay HP OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0001388 OMIM:606053 IEA HP:0040284 P HPO:skoehler[2019-04-18] OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0031936 OMIM:606053 IEA P HPO:skoehler[2019-02-22] OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0001263 OMIM:606053 IEA P HPO:skoehler[2019-02-22] -OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0000717 OMIM:606053 IEA P HPO:iea[2009-02-17] OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0003593 OMIM:606053 IEA C HPO:skoehler[2019-02-22] OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0001290 OMIM:606053 IEA P HPO:skoehler[2019-04-18] +OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0010864 PMID:30268909 IEA 2/2 P HPO:probinson[2020-07-17] +OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0000717 OMIM:606053 IEA P HPO:iea[2009-02-17] +OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0000733 OMIM:606053 IEA P HPO:skoehler[2019-02-22] OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0000735 OMIM:606053 IEA P HPO:skoehler[2019-02-22] OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0001302 OMIM:606053 IEA HP:0040284 P HPO:skoehler[2019-02-22] OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0000006 PMID:30268909 PCS I HPO:iea[2009-02-17];HPO:probinson[2020-07-17] -OMIM:606053 Intellectual developmental disorder with autism and speech delay HP:0010864 PMID:30268909 IEA 2/2 P HPO:probinson[2020-07-17] OMIM:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities HP:0000343 PMID:33217309 PCS 1/3 P HPO:probinson[2021-05-06] OMIM:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities NOT HP:0000364 PMID:33217309 PCS 0/3 P HPO:probinson[2021-05-06] OMIM:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities NOT HP:0001250 PMID:33217309 PCS 0/3 P HPO:probinson[2021-05-06] @@ -141750,45 +143244,54 @@ OMIM:193005 Vestibulocochlear dysfunction, progressive HP:0000360 OMIM:193005 I OMIM:193005 Vestibulocochlear dysfunction, progressive HP:0001730 OMIM:193005 IEA P HPO:iea[2009-02-17] OMIM:193005 Vestibulocochlear dysfunction, progressive HP:0008568 OMIM:193005 IEA P HPO:iea[2009-02-17] OMIM:193005 Vestibulocochlear dysfunction, progressive HP:0000006 OMIM:193005 IEA I HPO:iea[2009-02-17] -OMIM:311900 Tarp syndrome HP:0000463 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0001252 OMIM:311900 TAS P HPO:skoehler[2014-11-26] -OMIM:311900 Tarp syndrome HP:0000162 OMIM:311900 IEA P HPO:iea[2009-02-17] -OMIM:311900 Tarp syndrome HP:0000085 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0001273 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0012745 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0001290 OMIM:311900 TAS P HPO:skoehler[2017-07-13] -OMIM:311900 Tarp syndrome HP:0012725 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0006191 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0001508 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0008551 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0000954 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0000239 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0000316 OMIM:311900 IEA P HPO:skoehler[2018-10-08] -OMIM:311900 Tarp syndrome HP:0030680 OMIM:311900 IEA P HPO:iea[2009-02-17] -OMIM:311900 Tarp syndrome HP:0000879 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0000218 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0030084 OMIM:311900 TAS P HPO:skoehler[2014-09-21] -OMIM:311900 Tarp syndrome HP:0000358 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0001320 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0000175 OMIM:311900 IEA P HPO:iea[2009-02-17] -OMIM:311900 Tarp syndrome HP:0000395 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0001762 OMIM:311900 IEA P HPO:iea[2009-02-17] -OMIM:311900 Tarp syndrome HP:0000431 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0000199 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0001321 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0001263 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0100259 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0009891 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0001419 OMIM:311900 TAS I HPO:skoehler[2015-12-30] -OMIM:311900 Tarp syndrome HP:0001636 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0000767 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2017-07-13] -OMIM:311900 Tarp syndrome HP:0000648 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0001417 OMIM:311900 IEA I HPO:iea[2009-02-17] -OMIM:311900 Tarp syndrome HP:0001511 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0000347 OMIM:311900 IEA P HPO:iea[2009-02-17] -OMIM:311900 Tarp syndrome HP:0000369 OMIM:311900 TAS P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0002984 OMIM:311900 TAS HP:0012840 P HPO:skoehler[2014-08-03] -OMIM:311900 Tarp syndrome HP:0000126 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0002245 PMID:20451169 PCS 1/2 P HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0003577 PMID:20451169 PCS 3/3 C HPO:probinson[2023-06-09];HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0001399 PMID:20451169 PCS 1/2 P HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0000463 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001250 PMID:20451169 PCS 1/2 P HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0001252 OMIM:311900 TAS 1/2 P HPO:skoehler[2014-11-26];HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0000162 OMIM:311900 IEA 1/2 P HPO:iea[2009-02-17] +OMIM:311900 TARP syndrome HP:0000085 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001290 OMIM:311900 TAS P HPO:skoehler[2017-07-13] +OMIM:311900 TARP syndrome HP:0012745 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0012725 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0006191 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001508 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0008551 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0000316 OMIM:311900 IEA P HPO:skoehler[2018-10-08] +OMIM:311900 TARP syndrome HP:0000239 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0000954 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0000879 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0100309 PMID:20451169 PCS 1/3 P HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0030084 OMIM:311900 TAS P HPO:skoehler[2014-09-21] +OMIM:311900 TARP syndrome HP:0000218 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0000358 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001788 PMID:20451169 PCS 1/2 P HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0001320 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001562 PMID:20451169 PCS 1/2 P HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0000175 OMIM:311900 IEA 3/3 P HPO:iea[2009-02-17];HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0000395 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001762 OMIM:311900 IEA 1/2 P HPO:iea[2009-02-17];HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0000431 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001321 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0000199 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001263 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0100259 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001838 PMID:20451169 PCS 1/2 P HPO:probinson[2023-06-09];HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0009891 OMIM:311900 TAS P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001419 PMID:20451169 PCS I HPO:skoehler[2015-12-30];HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0000767 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:311900 TARP syndrome HP:0001636 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0000648 OMIM:311900 TAS HP:0040283 P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0001511 OMIM:311900 TAS 1/2 P HPO:skoehler[2014-08-03];HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0003811 PMID:20451169 PCS 3/3 C HPO:probinson[2023-06-09];HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0002305 PMID:20451169 PCS 1/3 P HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0001631 PMID:20451169 PCS 1/3 P HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0002984 OMIM:311900 TAS HP:0012840 P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0000369 OMIM:311900 TAS 1/2 P HPO:skoehler[2014-08-03] +OMIM:311900 TARP syndrome HP:0000347 PMID:20451169;OMIM:311900 PCS 13/13 P HPO:probinson[2023-06-09];HPO:iea[2009-02-17] +OMIM:311900 TARP syndrome HP:0001776 PMID:20451169 PCS 1/3 P HPO:probinson[2023-06-09] +OMIM:311900 TARP syndrome HP:0000126 OMIM:311900 TAS P HPO:skoehler[2014-08-03] OMIM:620080 Neuronopathy, distal hereditary motor, type X HP:0002169 PMID:31978608 PCS 2/4 P HPO:probinson[2022-12-04] OMIM:620080 Neuronopathy, distal hereditary motor, type X HP:0001245 PMID:31978608 PCS 2/4 P HPO:probinson[2022-12-04] OMIM:620080 Neuronopathy, distal hereditary motor, type X HP:0001761 PMID:26462740 PCS 2/3 P HPO:probinson[2022-12-04] @@ -142184,6 +143687,7 @@ OMIM:616268 Arboleda-Tham syndrome HP:0012724 PMID:32041641 PCS 1/5 P HPO:pr OMIM:616268 Arboleda-Tham syndrome HP:0100785 PMID:25728775 PCS 1/4 P HPO:probinson[2022-06-24] OMIM:616268 Arboleda-Tham syndrome HP:0008593 PMID:32041641 PCS 3/5 P HPO:probinson[2020-08-02] OMIM:616268 Arboleda-Tham syndrome HP:0100704 OMIM:616268 TAS P HPO:skoehler[2015-05-31] +OMIM:616268 Arboleda-Tham syndrome HP:0000733 PMID:32041641 PCS 4/5 P HPO:probinson[2020-08-02] OMIM:616268 Arboleda-Tham syndrome HP:0000219 OMIM:616268 TAS P HPO:skoehler[2015-05-31] OMIM:616268 Arboleda-Tham syndrome HP:0006610 PMID:32041641 PCS 5/5 P HPO:probinson[2020-08-02] OMIM:616268 Arboleda-Tham syndrome HP:0001544 PMID:32041641 PCS 1/5 P HPO:probinson[2020-08-02] @@ -142320,6 +143824,7 @@ OMIM:615761 Intellectual developmental disorder, autosomal dominant 23 HP:00007 OMIM:615761 Intellectual developmental disorder, autosomal dominant 23 HP:0100559 PMID:24680889 PCS 2/7 P HPO:probinson[2020-12-12] OMIM:615761 Intellectual developmental disorder, autosomal dominant 23 HP:0000508 PMID:24680889 PCS 1/7 P HPO:probinson[2020-12-12] OMIM:615761 Intellectual developmental disorder, autosomal dominant 23 HP:0000348 PMID:24680889 PCS 1/7 P HPO:probinson[2020-12-12] +OMIM:615761 Intellectual developmental disorder, autosomal dominant 23 HP:0000722 PMID:25480035 PCS 3/7 P HPO:skoehler[2014-08-24];HPO:probinson[2020-12-12] OMIM:615761 Intellectual developmental disorder, autosomal dominant 23 HP:0002307 PMID:25480035 PCS 3/7 P HPO:skoehler[2014-08-24];HPO:probinson[2020-12-12] OMIM:615761 Intellectual developmental disorder, autosomal dominant 23 HP:0001852 PMID:25138099 PCS 1/2 P HPO:probinson[2020-12-12] OMIM:615761 Intellectual developmental disorder, autosomal dominant 23 HP:0000664 PMID:24680889 PCS 5/7 P HPO:skoehler[2014-08-24];HPO:probinson[2020-12-12] @@ -142601,6 +144106,11 @@ OMIM:204100 Leber congenital amaurosis, type II HP:0000543 PMID:12960219 PCS 9 OMIM:204100 Leber congenital amaurosis, type II HP:0007688 PMID:12960219 PCS 13/13 P HPO:probinson[2022-03-10] OMIM:204100 Leber congenital amaurosis, type II HP:0007843 PMID:12960219;PMID:16505055 PCS 13/13 P HPO:probinson[2022-03-10] OMIM:204100 Leber congenital amaurosis, type II HP:0001249 PMID:12960219 PCS 2/13 P HPO:iea[2009-02-17];HPO:probinson[2022-03-10] +OMIM:620241 Hydrocephalus, congenital, 5, susceptibility to HP:0002410 PMID:29983323 PCS P HPO:probinson[2023-06-12] +OMIM:620241 Hydrocephalus, congenital, 5, susceptibility to HP:0003577 PMID:29983323 PCS C HPO:probinson[2023-06-12] +OMIM:620241 Hydrocephalus, congenital, 5, susceptibility to HP:0003829 PMID:29983323 PCS I HPO:probinson[2023-06-12] +OMIM:620241 Hydrocephalus, congenital, 5, susceptibility to HP:0000006 PMID:29983323 PCS I HPO:probinson[2023-06-12] +OMIM:620241 Hydrocephalus, congenital, 5, susceptibility to HP:0010953 PMID:29983323 PCS P HPO:probinson[2023-06-12] OMIM:610382 Prosopagnosia, hereditary HP:0010528 OMIM:610382 IEA P HPO:skoehler[2015-01-27] OMIM:610382 Prosopagnosia, hereditary HP:0000006 OMIM:610382 TAS I HPO:skoehler[2012-10-17] OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures HP:0000252 PMID:31616000 PCS 3/18 P HPO:probinson[2020-08-13] @@ -142617,6 +144127,7 @@ OMIM:618906 Intellectual developmental disorder with autistic features and langu OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures HP:0000729 PMID:31616000 PCS 15/20 P HPO:probinson[2020-08-13] OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures HP:0000739 PMID:31616000 PCS 4/12 P HPO:probinson[2020-08-13] OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures HP:0012450 PMID:31616000 PCS 9/15 P HPO:probinson[2020-08-13] +OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures HP:0000733 PMID:31616000 PCS 13/19 P HPO:probinson[2020-08-13] OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures HP:0007018 PMID:31616000 PCS 4/14 P HPO:probinson[2020-08-13] OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures HP:0000006 PMID:31616000 PCS I HPO:probinson[2020-08-13];HPO:probinson[2020-08-13] OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures HP:0001249 PMID:31616000 PCS 19/20 P HPO:probinson[2020-08-13] @@ -142745,16 +144256,22 @@ OMIM:614872 Peroxisome biogenesis disorder 7A (zellweger) HP:0000348 PMID:17336 OMIM:614872 Peroxisome biogenesis disorder 7A (zellweger) HP:0000007 PMID:12851857 PCS I HPO:probinson[2013-01-09];HPO:probinson[2022-06-22] OMIM:614872 Peroxisome biogenesis disorder 7A (zellweger) HP:0002126 PMID:17336976 PCS 1/1 P HPO:probinson[2022-06-22] OMIM:614872 Peroxisome biogenesis disorder 7A (zellweger) HP:0000369 PMID:17336976 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2022-06-22] -OMIM:248450 Manitoba oculotrichoanal syndrome HP:0001595 OMIM:248450 IEA P HPO:iea[2009-02-17] -OMIM:248450 Manitoba oculotrichoanal syndrome HP:0002025 OMIM:248450 IEA P HPO:iea[2009-02-17] -OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000528 OMIM:248450 IEA P HPO:iea[2009-02-17] -OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000316 OMIM:248450 IEA P HPO:iea[2009-02-17] -OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000007 OMIM:248450 IEA I HPO:iea[2009-02-17] -OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000579 OMIM:248450 IEA P HPO:iea[2009-02-17] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0002025 PMID:21507892 PCS 2/10 P HPO:iea[2009-02-17];HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0003577 PMID:21507892 PCS 10/10 C HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0001263 PMID:21507892 PCS 1/10 P HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000528 PMID:21507892 PCS 1/10 P HPO:iea[2009-02-17];HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0009553 PMID:21507892 PCS 7/9 P HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000316 PMID:21507892 PCS 4/10 P HPO:iea[2009-02-17];HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000007 PMID:21507892 PCS I HPO:iea[2009-02-17];HPO:probinson[2023-06-11] OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000568 OMIM:248450 PCS HP:0012828 P HPO:iea[2012-04-01] -OMIM:248450 Manitoba oculotrichoanal syndrome HP:0001539 OMIM:248450 IEA P HPO:iea[2009-02-17] -OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000625 OMIM:248450 IEA P HPO:iea[2009-02-17] -OMIM:248450 Manitoba oculotrichoanal syndrome HP:0001545 OMIM:248450 IEA P HPO:iea[2009-02-17] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000579 OMIM:248450 IEA P HPO:iea[2009-02-17] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0001539 PMID:21507892 PCS 3/10 P HPO:iea[2009-02-17];HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000625 PMID:21507892 PCS 4/10 P HPO:iea[2009-02-17];HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0001126 PMID:21507892 PCS 1/10 P HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000455 PMID:21507892 PCS 3/10 P HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0001545 PMID:21507892 PCS 2/10 P HPO:iea[2009-02-17];HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000456 PMID:21507892 PCS 9/10 P HPO:probinson[2023-06-11] +OMIM:248450 Manitoba oculotrichoanal syndrome HP:0000148 PMID:21507892 PCS 1/7 P HPO:probinson[2023-06-11] OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0002069 PMID:23863341 PCS 1/1 P HPO:probinson[2021-01-24] OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0001773 PMID:26358754 PCS 1/1 P HPO:probinson[2021-01-24] OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0001250 PMID:28166369 PCS 10/10 P HPO:probinson[2021-01-24] @@ -142805,6 +144322,8 @@ OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midli OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0000460 PMID:26358754 PCS 1/1 P HPO:probinson[2021-01-24] OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0033349 PMID:28166369 PCS 7/10 C HPO:probinson[2021-01-24] OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0001629 PMID:28166369 PCS 1/10 P HPO:probinson[2021-01-24] +OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0000817 PMID:26358754 PCS 1/1 P HPO:probinson[2021-01-24] +OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0000733 PMID:26358754 PCS 1/1 P HPO:probinson[2021-01-24] OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0000219 PMID:28166369 PCS 2/10 P HPO:probinson[2021-01-24] OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0030084 PMID:23863341 PCS 1/1 P HPO:probinson[2021-01-24] OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0002714 PMID:28166369 PCS 1/10 P HPO:probinson[2021-01-24] @@ -142858,6 +144377,38 @@ OMIM:618090 Neurodevelopmental disorder with epilepsy and hypoplasia of the corp OMIM:609823 Deafness, autosomal recessive 28 HP:0003593 OMIM:609823 IEA C HPO:iea[2009-02-17] OMIM:609823 Deafness, autosomal recessive 28 HP:0000007 OMIM:609823 IEA I HPO:iea[2009-02-17] OMIM:609823 Deafness, autosomal recessive 28 HP:0008625 OMIM:609823 TAS P HPO:skoehler[2009-02-17] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0002188 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0004322 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0030674 PMID:35325049 PCS 1/2 C HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0001272 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0000162 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0003593 PMID:35325049 PCS 1/2 C HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0010585 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0012368 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0033725 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0008434 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0002415 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0000278 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0004976 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0008936 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0003026 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0002059 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0000175 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0001344 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0001388 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0002650 PMID:35325049 PCS 2/2 P HPO:probinson[2023-06-12];HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0002673 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0002079 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0004233 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0011968 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0002451 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0003042 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0001263 PMID:35325049 PCS 2/2 P HPO:probinson[2023-06-12];HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0001181 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0000007 PMID:35325049 PCS I HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0004626 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0000201 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] +OMIM:620269 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia HP:0000666 PMID:35325049 PCS 1/2 P HPO:probinson[2023-06-12] OMIM:305550 Fingerprint body myopathy HP:0003198 OMIM:305550 IEA P HPO:skoehler[2010-06-20] OMIM:305550 Fingerprint body myopathy HP:0001939 OMIM:305550 IEA P HPO:iea[2009-02-17] OMIM:305550 Fingerprint body myopathy HP:0001417 OMIM:305550 IEA I HPO:iea[2009-02-17] @@ -143113,6 +144664,7 @@ OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures HP:0000729 PMID:31353024 PCS 6/14 P HPO:probinson[2020-07-07] OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures HP:0002539 PMID:31353024 PCS 3/15 P HPO:probinson[2020-07-07] OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures HP:0001999 PMID:31353024 PCS 8/15 P HPO:probinson[2020-07-07] +OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures HP:0000733 PMID:31353024 PCS 4/14 P HPO:probinson[2020-07-07] OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures HP:0000238 PMID:31353024 PCS 3/15 P HPO:probinson[2020-07-07] OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures HP:0002119 PMID:31353024 PCS 8/15 P HPO:probinson[2020-07-07] OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures HP:0007018 PMID:31353024 PCS 3/14 P HPO:probinson[2020-07-07] @@ -143635,112631 +145187,112631 @@ OMIM:611705 Congenital myopathy 5 with cardiomyopathy HP:0000007 PMID:17444505 OMIM:611705 Congenital myopathy 5 with cardiomyopathy HP:0001635 PMID:17444505 PCS 1/4 P HPO:probinson[2023-03-12] OMIM:611705 Congenital myopathy 5 with cardiomyopathy HP:0001678 PMID:17444505 PCS 1/5 P HPO:probinson[2023-03-12] OMIM:611705 Congenital myopathy 5 with cardiomyopathy HP:0003557 PMID:17444505 PCS 5/5 P HPO:probinson[2023-03-12];HPO:probinson[2023-03-12] -ORPHA:79414 Woolly hair nevus HP:0002212 ORPHA:79414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79414 Woolly hair nevus HP:0002213 ORPHA:79414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79414 Woolly hair nevus HP:0011365 ORPHA:79414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79414 Woolly hair nevus HP:0040149 ORPHA:79414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79414 Woolly hair nevus HP:0007534 ORPHA:79414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79414 Woolly hair nevus HP:0001100 ORPHA:79414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79414 Woolly hair nevus HP:0001156 ORPHA:79414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79414 Woolly hair nevus HP:0006304 ORPHA:79414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79414 Woolly hair nevus HP:0009917 ORPHA:79414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79414 Woolly hair nevus HP:0011387 ORPHA:79414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79414 Woolly hair nevus HP:0000826 ORPHA:79414 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000083 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000206 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000365 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000405 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000421 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000505 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000508 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000572 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000597 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000639 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000648 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000651 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000716 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000790 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000873 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0000975 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001123 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001251 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001287 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001324 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001369 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001387 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001399 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001596 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001645 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001701 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001824 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001872 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0001945 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0002027 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0002039 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0002103 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0002315 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0002321 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0002633 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0002637 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0002647 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0002829 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0003326 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0003401 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0003565 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0004420 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0005112 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0005216 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0005244 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0009830 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0011658 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0011675 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0012378 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0012735 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0100576 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0100721 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0100758 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0100776 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397 Giant cell arteritis HP:0200042 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0000028 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0000035 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0000045 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0000048 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0000051 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0000054 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0008665 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0000062 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0000137 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0001263 ORPHA:199310 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0000954 ORPHA:199310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0001053 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0010459 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0008723 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0010970 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0010987 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0012145 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199310 Tetragametic chimerism HP:0012861 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0001268 ORPHA:399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0001347 ORPHA:399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002072 ORPHA:399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000496 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000713 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000716 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000718 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000722 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000734 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000737 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000738 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000739 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000741 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0000746 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0001250 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0001288 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0001332 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0001336 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0001824 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002067 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002141 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002312 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002354 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002355 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002375 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0003324 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0004305 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0004408 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0007010 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0009088 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0025401 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0031473 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0031843 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0031845 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0001262 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002059 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002063 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002169 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002300 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002340 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002500 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002540 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0002591 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0003107 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0003487 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0010794 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0030842 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0030955 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0031589 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0040140 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0045082 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0100785 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399 Huntington disease HP:0200136 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000218 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000501 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000518 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000541 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000545 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000646 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000648 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000678 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000708 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000709 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000767 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000768 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000822 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0000939 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0001025 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0001083 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0001166 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0001249 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0001250 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0001387 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0001519 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0001933 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002039 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002040 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002170 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002204 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002209 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002239 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002240 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002637 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002650 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002757 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002808 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002857 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0002910 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0004337 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0004374 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0004420 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0004936 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0007703 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0100026 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:394 Classic homocystinuria HP:0100790 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:393 46,XX testicular disorder of sex development HP:0000026 ORPHA:393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:393 46,XX testicular disorder of sex development HP:0000062 ORPHA:393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:393 46,XX testicular disorder of sex development HP:0000147 ORPHA:393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:393 46,XX testicular disorder of sex development HP:0008734 ORPHA:393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:396 Chronic hiccup HP:0100247 ORPHA:396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:396 Chronic hiccup HP:0000716 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:396 Chronic hiccup HP:0000775 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:396 Chronic hiccup HP:0001824 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:396 Chronic hiccup HP:0001944 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:396 Chronic hiccup HP:0002360 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:396 Chronic hiccup HP:0004395 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:396 Chronic hiccup HP:0100738 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000708 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001288 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002011 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002061 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002156 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002160 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002493 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0003286 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0007340 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0012379 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000725 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001250 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001251 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001268 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002313 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002518 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0003658 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0009830 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0410263 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000709 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001249 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001254 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001263 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001269 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001328 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001345 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001508 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001727 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001977 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002069 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002104 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002315 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002500 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002625 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0006827 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0007359 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0008872 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0008935 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0012444 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0100543 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000238 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000252 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000478 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000639 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000648 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001297 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001298 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002119 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002121 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002123 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0000767 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0000889 ORPHA:392 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0000912 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0001171 ORPHA:392 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0001387 ORPHA:392 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0030680 ORPHA:392 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0005916 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0001199 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0001629 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0001631 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0001678 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0002650 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0002808 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0004757 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0006501 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0009777 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0011705 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0000772 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0001643 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0001679 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0002974 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0003063 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0004383 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0006101 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0006695 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0009829 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0010772 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0011304 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:392 Holt-Oram syndrome HP:0200021 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0000252 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0000256 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0000286 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0000400 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0000411 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0000486 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0000494 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0000717 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0000995 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0001249 ORPHA:199318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0001250 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0001252 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0001263 ORPHA:199318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0002007 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0030680 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0004209 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0004322 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0005274 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0007018 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0007302 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199318 15q13.3 microdeletion syndrome HP:0100753 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0002665 ORPHA:391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0002716 ORPHA:391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0005374 ORPHA:391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0012378 ORPHA:391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0000975 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0000989 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0001824 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0001945 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0002039 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0004396 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0012735 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0100749 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0000988 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0001251 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0001744 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0002076 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0002093 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0002105 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0002240 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0002653 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0002664 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0002797 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0005528 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391 Classic Hodgkin lymphoma HP:0009830 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000219 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000307 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000331 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000592 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0001518 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0002007 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0002714 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0002750 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0004209 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0004322 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0004482 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0008897 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000066 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000322 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000324 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000325 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000460 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000527 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000582 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000975 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0001212 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0001786 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0001943 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0002213 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0006889 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0008872 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0009890 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0011342 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0011471 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0002164 ORPHA:1401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0002212 ORPHA:1401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0009755 ORPHA:1401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0000072 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0000175 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0000190 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0000316 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0000958 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0000966 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0001251 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0002710 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0005280 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0006349 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0010297 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0030011 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0100750 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0200160 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0004704 ORPHA:1401 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0001270 ORPHA:1401 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1401 CHAND syndrome HP:0200041 ORPHA:1401 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031825 ORPHA:240094 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031434 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031908 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0005329 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0001621 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002063 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0001337 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002141 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002505 ORPHA:240094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031814 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031937 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002304 ORPHA:240094 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000726 ORPHA:240094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000570 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002317 ORPHA:240094 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0007311 ORPHA:240094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002527 ORPHA:240094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002464 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0009053 ORPHA:240094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000571 ORPHA:240094 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000657 ORPHA:240094 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000643 ORPHA:240094 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000511 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002068 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002067 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000175 ORPHA:2736 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0001539 ORPHA:2736 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000136 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000185 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000193 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000238 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000278 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0100333 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0000160 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0000233 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0000316 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0000322 ORPHA:1406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0000347 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0000400 ORPHA:1406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0000431 ORPHA:1406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0001156 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0005916 ORPHA:1406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0001171 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0001199 ORPHA:1406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0001231 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0006101 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0008388 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0009804 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1406 Charlie M syndrome HP:0100335 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2730 Postaxial tetramelic oligodactyly HP:0005916 ORPHA:2730 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2730 Postaxial tetramelic oligodactyly HP:0001167 ORPHA:2730 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2730 Postaxial tetramelic oligodactyly HP:0012165 ORPHA:2730 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2730 Postaxial tetramelic oligodactyly HP:0100257 ORPHA:2730 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0000365 ORPHA:2732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0000486 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0000567 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0000639 ORPHA:2732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0000648 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0001250 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0001251 ORPHA:2732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0001276 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0001347 ORPHA:2732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0002119 ORPHA:2732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0002120 ORPHA:2732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0002167 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0002353 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0002542 ORPHA:2732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0002017 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0003270 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0004399 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0008066 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0011100 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0200097 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000070 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000075 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000110 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000126 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000790 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0001561 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0001581 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0006297 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0010477 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0012227 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0100577 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000656 ORPHA:79403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0001057 ORPHA:79403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0001059 ORPHA:79403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0008404 ORPHA:79403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0000389 ORPHA:199302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0100335 ORPHA:199302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0000220 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0000708 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0001518 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0001572 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0006332 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0009088 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0031469 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0040115 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0100336 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0000405 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0000668 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0001328 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0001537 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0001561 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0001696 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199302 Isolated cleft lip HP:0001762 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0002064 ORPHA:99013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0000012 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0000605 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0000639 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0000648 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0001272 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0001611 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0002166 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0002395 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0003200 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0003474 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0003487 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0006895 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0007018 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0007164 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0007256 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0007340 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0008322 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0011446 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0000543 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0001260 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0001761 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0002120 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0002500 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0002650 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0003484 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0001328 ORPHA:99013 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0002015 ORPHA:99013 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0002354 ORPHA:99013 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99013 Spastic paraplegia type 7 HP:0012514 ORPHA:99013 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001030 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001508 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001510 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001581 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001597 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0006297 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0008066 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0011830 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0020117 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0200035 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0200041 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001211 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001609 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001798 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001818 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001903 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002094 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0004395 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0010307 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0031446 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000003 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000010 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000014 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000016 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000070 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000072 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000081 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000107 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000126 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000481 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000939 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000969 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001057 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001596 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001602 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001615 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001644 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001944 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001955 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002013 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002019 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002043 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002087 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002090 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002098 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002860 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002878 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0003111 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0004057 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0004386 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0006000 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0008404 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0008682 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0010476 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0012227 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0100518 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0100806 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000999 ORPHA:79404 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001250 ORPHA:79404 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001662 ORPHA:79404 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002107 ORPHA:79404 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0012252 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0031464 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0000670 ORPHA:79405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0008066 ORPHA:79405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0011355 ORPHA:79405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001030 ORPHA:79405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001075 ORPHA:79405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0006297 ORPHA:79405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0008404 ORPHA:79405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001056 ORPHA:79405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001798 ORPHA:79405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0004386 ORPHA:79405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0020117 ORPHA:79405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0200097 ORPHA:79405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0000079 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0000478 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0000982 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001510 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001903 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001965 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0002671 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0002860 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0004057 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0010562 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0012056 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0000365 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0000648 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0000763 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001251 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001260 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001262 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001284 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001288 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001324 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001337 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001761 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0002385 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0002463 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0002650 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0002808 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0003712 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0007328 ORPHA:99014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0009830 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0040129 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0000407 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0001181 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0001249 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0001531 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0001824 ORPHA:388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0002014 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0002017 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0002019 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0002027 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0002251 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0004322 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0005214 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0012719 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0100031 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0100806 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:388 Hirschsprung disease HP:0200008 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001030 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001798 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0006297 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0007455 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0008066 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0008404 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0000670 ORPHA:79406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0000975 ORPHA:79406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0011355 ORPHA:79406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0020117 ORPHA:79406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0200097 ORPHA:79406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0000079 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0000478 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0000982 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001056 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001075 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001510 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001903 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001965 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0002671 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0002860 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0004057 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0004386 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0010562 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0012056 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0012252 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0031464 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0000639 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0000648 ORPHA:99015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0000763 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0001249 ORPHA:99015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0001251 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0001257 ORPHA:99015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0001260 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0001324 ORPHA:99015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0001347 ORPHA:99015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0001376 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0002064 ORPHA:99015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0002071 ORPHA:99015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0002204 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0002205 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0002607 ORPHA:99015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0003487 ORPHA:99015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99015 Spastic paraplegia type 2 HP:0005340 ORPHA:99015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000325 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000331 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001518 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0002750 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0004322 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0100555 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000218 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000411 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000678 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0004209 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0004325 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0004482 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0008872 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0008897 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0011220 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0100559 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0100560 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000811 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001052 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001249 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001250 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001270 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001540 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001943 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001998 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0010442 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000975 ORPHA:231140 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001476 ORPHA:231140 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000325 ORPHA:231147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001518 ORPHA:231147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0002007 ORPHA:231147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0004209 ORPHA:231147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000175 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000324 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000924 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000975 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001263 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001511 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001622 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001627 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001943 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0002194 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0003241 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0005484 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0008872 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0030884 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0100555 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0100559 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0001250 ORPHA:382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0000708 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002071 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002465 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0007153 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0010864 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0011344 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0100022 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0000717 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0000718 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0000752 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0001251 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0001332 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002069 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002072 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002123 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002305 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002384 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002457 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0010819 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0100716 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0001252 ORPHA:382 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000750 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001263 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001999 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0008872 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0008947 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0031936 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000708 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001388 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001531 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001627 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001760 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0002360 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0002460 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0002936 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0003693 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0009027 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0012210 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0012450 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0200101 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0410263 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000219 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000319 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000325 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000343 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000377 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000445 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000486 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000494 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000762 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000763 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001629 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001631 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001647 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001655 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001719 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001762 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001763 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001852 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0002136 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0002623 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0003380 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0003396 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0004691 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0004942 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0005301 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0008081 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001075 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001371 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001510 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001903 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0004057 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0004386 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0008066 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012532 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0200097 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000478 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000716 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000739 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001798 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001891 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001965 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0002860 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0008404 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0011354 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0031446 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000670 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001030 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001056 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0032676 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000083 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000099 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000160 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000572 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000794 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000823 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000938 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000939 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001057 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001581 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001644 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001917 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0002015 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0002020 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0002839 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0004395 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0004791 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0010296 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0011936 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012056 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012227 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012390 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012622 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0031831 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0031903 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0008366 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0100508 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0100512 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0200020 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000079 ORPHA:79408 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0031464 ORPHA:79408 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000982 ORPHA:79408 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0002671 ORPHA:79408 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0006297 ORPHA:79408 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012252 ORPHA:79408 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:385 Neurodegeneration with brain iron accumulation HP:0000488 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:385 Neurodegeneration with brain iron accumulation HP:0000648 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:385 Neurodegeneration with brain iron accumulation HP:0001257 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:385 Neurodegeneration with brain iron accumulation HP:0001260 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:385 Neurodegeneration with brain iron accumulation HP:0001272 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:385 Neurodegeneration with brain iron accumulation HP:0001332 ORPHA:385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:385 Neurodegeneration with brain iron accumulation HP:0002063 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:385 Neurodegeneration with brain iron accumulation HP:0002071 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:385 Neurodegeneration with brain iron accumulation HP:0002072 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:385 Neurodegeneration with brain iron accumulation HP:0012675 ORPHA:385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001030 ORPHA:79409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0000079 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0000670 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001056 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001075 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001798 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0004386 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0008066 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0008404 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0011355 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0031464 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0200097 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0000402 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001510 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001903 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0002043 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0004057 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0007446 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0012227 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0025416 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0200020 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0000478 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0000982 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001965 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0002671 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0002860 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0006297 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0012056 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0012252 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:384 Huriez syndrome HP:0000958 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:384 Huriez syndrome HP:0000982 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:384 Huriez syndrome HP:0001597 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:384 Huriez syndrome HP:0001792 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:384 Huriez syndrome HP:0008065 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:384 Huriez syndrome HP:0011838 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:384 Huriez syndrome HP:0100679 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0000325 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001508 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001511 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001518 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001562 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0002750 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0004209 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0004322 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0008897 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0000324 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001270 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001328 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001537 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001558 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0004482 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0008846 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0008947 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0011220 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0011800 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000023 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000028 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000071 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000079 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000160 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000174 ORPHA:2719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000252 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000268 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000407 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000463 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000478 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000504 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000518 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000545 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000639 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000656 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000691 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000963 ORPHA:2719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001107 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001139 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001166 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001172 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001249 ORPHA:2719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001251 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001257 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001305 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001347 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001376 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001510 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001608 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001903 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0002071 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0002305 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0002353 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0002510 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0003196 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0004322 ORPHA:2719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0005280 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0005561 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0005599 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0007256 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0007730 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0007957 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0008056 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0100022 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0000238 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0000499 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0000534 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0000639 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0000952 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001053 ORPHA:381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001249 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001250 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001251 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001252 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001257 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001263 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001315 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001541 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001744 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001873 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001874 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001882 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0001945 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0002021 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0002084 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0002216 ORPHA:381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0002218 ORPHA:381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0002240 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0002716 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0002721 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0003119 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0004313 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0004322 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0005528 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0006824 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0007730 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0010741 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0011364 ORPHA:381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0012115 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:381 Griscelli syndrome HP:0100022 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000238 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000256 ORPHA:380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000316 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000348 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000431 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000506 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000776 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001162 ORPHA:380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001177 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001250 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001256 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001274 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001363 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001537 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001770 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001830 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001841 ORPHA:380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0002007 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0005616 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0006101 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0010059 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0011304 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0006292 ORPHA:199306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0000175 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0000202 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0000220 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0000403 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0000750 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0002033 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0008872 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0009088 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0100334 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0200136 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0000405 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0000689 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0001611 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0004395 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0006342 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0010294 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0011044 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0100337 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0200153 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199306 Cleft lip/palate HP:0000327 ORPHA:199306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0045075 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0000691 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0000692 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0000982 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0008070 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0001231 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0001596 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0001800 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0002231 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0006482 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0009804 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000083 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000112 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000175 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000202 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000238 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000276 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000368 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000426 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000463 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000486 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000508 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000612 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000639 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000657 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0000864 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0001161 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0001249 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0001250 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0001251 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0001252 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0001263 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0001274 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0001288 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0001320 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0001337 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0002084 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0002104 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0002126 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0002251 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0002419 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0002553 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0030680 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0002650 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0002793 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0004422 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220497 Joubert syndrome with renal defect HP:0011968 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0001399 ORPHA:2724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0002015 ORPHA:2724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0030680 ORPHA:2724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0002621 ORPHA:2724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0011068 ORPHA:2724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0012819 ORPHA:2724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0000175 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0000269 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0000316 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0000368 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0000518 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0001166 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0001376 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0001511 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0001852 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0030680 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0002644 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0002974 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0003272 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0004209 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0004322 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0004493 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0006487 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0006703 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0009832 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0012368 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0100335 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002067 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0006921 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002063 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0001337 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000496 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0001268 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002527 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002172 ORPHA:240085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002098 ORPHA:240085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002068 ORPHA:240085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0001332 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002548 ORPHA:240085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000741 ORPHA:240085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000716 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0010794 ORPHA:240085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000511 ORPHA:240085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000570 ORPHA:240085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002167 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000739 ORPHA:240085 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002354 ORPHA:240085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000175 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000202 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000238 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000276 ORPHA:220493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000368 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000426 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000463 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000480 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000486 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000508 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000556 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000572 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000612 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000639 ORPHA:220493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000657 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0000864 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001161 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001249 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001250 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001251 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001252 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001263 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001274 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001288 ORPHA:220493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001320 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001337 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001651 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0001829 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0002084 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0002104 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0002126 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0002251 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0002419 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0002553 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0030680 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0002650 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0002793 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0003468 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0004422 ORPHA:220493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220493 Joubert syndrome with ocular defect HP:0011968 ORPHA:220493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000028 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000046 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000093 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000252 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000356 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000365 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000403 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000508 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000568 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000581 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000646 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000685 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000687 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000691 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000750 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0001018 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0001256 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0001270 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0001511 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0008551 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0008897 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0030148 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000175 ORPHA:2728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0001631 ORPHA:2728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0012619 ORPHA:2728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0012768 ORPHA:2728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000463 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000483 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000520 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001090 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001562 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001629 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001633 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001650 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001711 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001744 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001883 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0002025 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0002079 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0002144 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0002219 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0002566 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0002650 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0003196 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0003396 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0005280 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0005325 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0005487 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0005989 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0010445 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0010804 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0010864 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0012583 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0100876 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000074 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000126 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000175 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000194 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000430 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000431 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000465 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000637 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000750 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000998 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001249 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001263 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001270 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001382 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001627 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0002714 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0008850 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0008947 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0011039 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0011800 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000252 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000508 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001385 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0001539 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0002020 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0002711 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0010442 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0010807 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000020 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000136 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000316 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000336 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000369 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2729 Okamoto syndrome HP:0000400 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0008066 ORPHA:79410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0011355 ORPHA:79410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0012221 ORPHA:79410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000987 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000989 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001030 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001056 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001075 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001231 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001798 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0007446 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0008388 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0008404 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0010562 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000478 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000670 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001792 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0004057 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0030350 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0045059 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0200037 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0200041 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0200097 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000079 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000982 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001510 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001903 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001965 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0002671 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0002860 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0004386 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0006297 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0012056 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0012252 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0031464 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0000230 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0000246 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0000388 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0000964 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0000992 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0001034 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0001287 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0001744 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0001874 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0001945 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0002021 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0002024 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0002205 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0002240 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0002575 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0006510 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0012733 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0100523 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0100533 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0100721 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0100806 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:379 Chronic granulomatous disease HP:0200042 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0011354 ORPHA:79411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001030 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001056 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001075 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001798 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0008066 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0008404 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0009723 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0200097 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0000670 ORPHA:79411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001057 ORPHA:79411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0200041 ORPHA:79411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001000 ORPHA:79411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0000079 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0000478 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0000982 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001510 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001903 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001965 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0002671 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0002860 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0004057 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0004386 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0006297 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0012056 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0012252 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0031464 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000091 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000218 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000238 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000365 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000518 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000613 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000639 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001107 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001166 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001249 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001250 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001251 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001263 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001276 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001874 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001931 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0002363 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0003272 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0004322 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0004349 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0007360 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0007513 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0007730 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0010662 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0010978 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0011364 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0011789 ORPHA:90673 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0000851 ORPHA:90673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0002925 ORPHA:90673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0006579 ORPHA:90673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0025484 ORPHA:90673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0031219 ORPHA:90673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0031507 ORPHA:90673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0000158 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0001254 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0001265 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0001537 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0001662 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0002019 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0003265 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0004491 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0005930 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0005990 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0008223 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0008828 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0008872 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0025429 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0031220 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0000969 ORPHA:90673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0001252 ORPHA:90673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0002045 ORPHA:90673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0000853 ORPHA:90673 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0030057 ORPHA:90673 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0005990 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0008245 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0025483 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0031098 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0031208 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0031219 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0031507 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000053 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000158 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000270 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000282 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000870 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000958 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001265 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001508 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001510 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001537 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001609 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001615 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0002019 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0002045 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0002690 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0002750 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0003124 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0003265 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0004491 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0005280 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0005930 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0006579 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0008828 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0008872 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0012378 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0012758 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001252 ORPHA:90674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001254 ORPHA:90674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001662 ORPHA:90674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0002312 ORPHA:90674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0007018 ORPHA:90674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000716 ORPHA:90674 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000853 ORPHA:90674 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0030057 ORPHA:90674 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0000750 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001252 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001508 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001649 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001824 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001873 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001876 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001892 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0002013 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0100502 ORPHA:35858 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0200118 ORPHA:35858 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0410216 ORPHA:35858 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001889 ORPHA:35858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001972 ORPHA:35858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0004821 ORPHA:35858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0000093 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0000980 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001875 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001923 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0004823 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0020061 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0032566 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0000206 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0000707 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0002019 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0002376 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0004396 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0030318 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0031936 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0002721 ORPHA:35858 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0010797 ORPHA:252054 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0002017 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0002315 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0002321 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0006880 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0009711 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0010576 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0030915 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0000011 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0003484 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0007340 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0009713 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0012534 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0030144 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0100661 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252054 Hemangioblastoma HP:0000238 ORPHA:252054 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0000478 ORPHA:99000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0000504 ORPHA:99000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0000505 ORPHA:99000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0000551 ORPHA:99000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0001123 ORPHA:99000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0001139 ORPHA:99000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0007677 ORPHA:99000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0007730 ORPHA:99000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0007899 ORPHA:99000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0000790 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0000967 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0001698 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0001701 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0001873 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0001903 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0002094 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0002829 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0003138 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0003236 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0003326 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0003493 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0003565 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0005184 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0005421 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0011227 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0025300 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0025343 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0030057 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0045042 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0001945 ORPHA:231111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0045073 ORPHA:231111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231111 Drug-induced lupus erythematosus HP:0025142 ORPHA:231111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357154 Oral submucous fibrosis HP:0000160 ORPHA:357154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357154 Oral submucous fibrosis HP:0000163 ORPHA:357154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357154 Oral submucous fibrosis HP:0000211 ORPHA:357154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357154 Oral submucous fibrosis HP:0000600 ORPHA:357154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357154 Oral submucous fibrosis HP:0001371 ORPHA:357154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357154 Oral submucous fibrosis HP:0012182 ORPHA:357154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357154 Oral submucous fibrosis HP:0100825 ORPHA:357154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002172 ORPHA:240071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002527 ORPHA:240071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000514 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0001268 ORPHA:240071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0030953 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000633 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000622 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000643 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000613 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0007086 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0100710 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0007164 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000605 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002068 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0001300 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0006921 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002067 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002141 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000511 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002530 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002304 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0001337 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0001260 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0007158 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0001332 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000570 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0007256 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002548 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0011123 ORPHA:542592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0025528 ORPHA:542592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0000819 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0001030 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0001075 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0002814 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0010783 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0011990 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0032217 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0032252 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0100585 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0200034 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0200035 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0200036 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0200042 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0000271 ORPHA:542592 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0001155 ORPHA:542592 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0001965 ORPHA:542592 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0002973 ORPHA:542592 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0000820 ORPHA:542592 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542592 Necrobiosis lipoidica HP:0002860 ORPHA:542592 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000164 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000174 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000175 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000176 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000275 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000343 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000365 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000407 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000426 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000456 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000482 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000501 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000508 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000518 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000541 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000568 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000612 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000677 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000684 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0000692 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0001083 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0001169 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0001249 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0001263 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0001634 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0001643 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0001671 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0001765 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0002553 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0002566 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0002650 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0002857 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0002967 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0002974 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0004209 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0004691 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0004969 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0006315 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0008872 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0009778 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0010327 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0010339 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2712 Oculofaciocardiodental syndrome HP:0011090 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000568 ORPHA:2714 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0002099 ORPHA:2714 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000175 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000252 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000391 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000400 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000518 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000555 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001249 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001257 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001263 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001382 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001511 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001773 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0002705 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0004322 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0006913 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0007370 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0007968 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0008386 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0200055 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000501 ORPHA:2714 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000541 ORPHA:2714 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2714 Oculo-palato-cerebral syndrome HP:0002283 ORPHA:2714 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000083 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000093 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000154 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000275 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000298 ORPHA:2715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000303 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000400 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000486 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000505 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000518 ORPHA:2715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000648 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001053 ORPHA:2715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001252 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001257 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001264 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001266 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001347 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001852 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0002187 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0002650 ORPHA:2715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0004322 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0005692 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0007360 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0007703 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0008046 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0009748 ORPHA:2715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0010620 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0010669 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0100820 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0200063 ORPHA:220460 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0004783 ORPHA:220460 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0005227 ORPHA:220460 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0006753 ORPHA:220460 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0030255 ORPHA:220460 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0100896 ORPHA:220460 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0000131 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0000854 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0005562 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0009592 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0010614 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0012740 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0040276 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220460 Attenuated familial adenomatous polyposis HP:0007649 ORPHA:220460 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2717 Oculotrichoanal syndrome HP:0000316 ORPHA:2717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2717 Oculotrichoanal syndrome HP:0000456 ORPHA:2717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2717 Oculotrichoanal syndrome HP:0000528 ORPHA:2717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2717 Oculotrichoanal syndrome HP:0000568 ORPHA:2717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2717 Oculotrichoanal syndrome HP:0000579 ORPHA:2717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2717 Oculotrichoanal syndrome HP:0000636 ORPHA:2717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2717 Oculotrichoanal syndrome HP:0001126 ORPHA:2717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2717 Oculotrichoanal syndrome HP:0001545 ORPHA:2717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2717 Oculotrichoanal syndrome HP:0002025 ORPHA:2717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2717 Oculotrichoanal syndrome HP:0010720 ORPHA:2717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0000980 ORPHA:101096 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0001896 ORPHA:101096 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0005528 ORPHA:101096 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0002094 ORPHA:101096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0005561 ORPHA:101096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0012378 ORPHA:101096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0000716 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0000978 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0000712 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0001626 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0001873 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0001875 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0001876 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0001892 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0001945 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0005407 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0010978 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0011117 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0012133 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0030197 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0031393 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0000726 ORPHA:101096 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0002716 ORPHA:101096 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101096 Aregenerative anemia HP:0100543 ORPHA:101096 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0000764 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0002495 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0002936 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0003202 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0003447 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0007141 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0007249 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0007267 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0007328 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0008959 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0008994 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0008997 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0009053 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0010830 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0011096 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0000925 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001171 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001284 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001315 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001371 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001604 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001609 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001761 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001762 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0002317 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0002359 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0002505 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0003731 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0006858 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0007233 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0008954 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0011727 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0030237 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0031629 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0000765 ORPHA:101097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001270 ORPHA:101097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0000762 ORPHA:101097 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0000989 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0003341 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0007446 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0007497 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0007585 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0008066 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0025238 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0002046 ORPHA:79400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0003401 ORPHA:79400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0003489 ORPHA:79400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0012513 ORPHA:79400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0200035 ORPHA:79400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0000975 ORPHA:79400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0007556 ORPHA:79400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0010765 ORPHA:79400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0031446 ORPHA:79400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0200041 ORPHA:79400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0001056 ORPHA:79400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0001075 ORPHA:79400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0008404 ORPHA:79400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0030350 ORPHA:79400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0200097 ORPHA:79400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79400 Localized epidermolysis bullosa simplex HP:0009123 ORPHA:79400 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0000982 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0001030 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0001034 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0007446 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0008066 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0020073 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0031045 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0200041 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0000164 ORPHA:79401 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0000478 ORPHA:79401 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0001627 ORPHA:79401 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0002012 ORPHA:79401 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000011 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000161 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000175 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000187 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000286 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000303 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000316 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000347 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000348 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000365 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000366 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000405 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000430 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000446 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000463 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000478 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000482 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000486 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000490 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000501 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000504 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000505 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000518 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000525 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000545 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000582 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000598 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000601 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000639 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000648 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000670 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000679 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000682 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000889 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000940 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000944 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000982 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0008070 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001156 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001161 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001177 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001231 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001249 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001250 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001251 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001257 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001260 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001288 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001324 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001347 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001537 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001597 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001629 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001770 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0001943 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0002212 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0002213 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0002217 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0002299 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0002313 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0002514 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0030680 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0003067 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0003103 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0003196 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0003312 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0004209 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0004437 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0000463 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0006101 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0006323 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0007360 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0008499 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0008572 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0009804 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0009843 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0010109 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0010761 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0011342 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0011675 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0030084 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0100335 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0100490 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2710 Oculodentodigital dysplasia HP:0100774 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0000982 ORPHA:79402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001000 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001056 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001057 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001075 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001510 ORPHA:79402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001798 ORPHA:79402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001903 ORPHA:79402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0002231 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0004552 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0006297 ORPHA:79402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0008066 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0008404 ORPHA:79402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0200097 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000938 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000939 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001007 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001369 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001495 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001999 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0002797 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0003040 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0005922 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0006234 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0009139 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0045039 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000248 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000916 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001230 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001482 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001626 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0003312 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0005441 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0011355 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000147 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000315 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000612 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000822 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001059 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001085 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001249 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001539 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001629 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001631 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001634 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001647 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001678 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001680 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001719 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0002659 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0005994 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0010314 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0100651 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003324 ORPHA:34516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0001260 ORPHA:34516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0002015 ORPHA:34516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003551 ORPHA:34516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003557 ORPHA:34516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003715 ORPHA:34516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003805 ORPHA:34516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0002505 ORPHA:34516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0012548 ORPHA:34516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0030951 ORPHA:34516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0004303 ORPHA:34516 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0010548 ORPHA:34516 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0002615 ORPHA:97292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0003115 ORPHA:97292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0005162 ORPHA:97292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0009805 ORPHA:97292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0001635 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0001658 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0001695 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0002094 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0004372 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0006670 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0012418 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0030830 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0030848 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0030851 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0030876 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0100520 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0001289 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0001653 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0001942 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0002151 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0002321 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0003259 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0012251 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0001259 ORPHA:97292 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97292 Cardiogenic shock HP:0001708 ORPHA:97292 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001052 ORPHA:97297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0012758 ORPHA:97297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000243 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000252 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000293 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000297 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000520 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000589 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000648 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000664 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000998 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001105 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001274 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001376 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001511 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001525 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001662 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002013 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002079 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002104 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002187 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002205 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002360 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002540 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002719 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002803 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002870 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0003049 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0004322 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0005487 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0006471 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0006863 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0006895 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0008872 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0008936 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0010733 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0010864 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0012537 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0040082 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000016 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000175 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000278 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000316 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000347 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000368 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000431 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000463 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0000767 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001250 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001305 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001373 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002119 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0005280 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0006070 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0010291 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0011003 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0012448 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0012453 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0410030 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001081 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001640 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001671 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0001734 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002667 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97297 Bohring-Opitz syndrome HP:0002885 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003236 ORPHA:34515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003560 ORPHA:34515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003701 ORPHA:34515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0030099 ORPHA:34515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0001290 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0002515 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003547 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003749 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0005109 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0008981 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0001270 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0001644 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0002359 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0002650 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003551 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0009046 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0030092 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0000853 ORPHA:97290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0002730 ORPHA:97290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0002733 ORPHA:97290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0002757 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0002895 ORPHA:97290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0003002 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0003003 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0005994 ORPHA:97290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0006528 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0006735 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0006766 ORPHA:97290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0011798 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0012288 ORPHA:97290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:3000037 ORPHA:97290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001249 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001344 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002136 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0008947 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0010862 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0012758 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000478 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000504 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000549 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000977 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001250 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001262 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001270 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001332 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002019 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002045 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002104 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002267 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002307 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002540 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002791 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002870 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0005957 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0010536 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0010863 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0011968 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0012171 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0100247 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0100512 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0100660 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000119 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000278 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000293 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000486 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000540 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000565 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000639 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000818 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000924 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000939 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001336 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001385 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001388 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001627 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002002 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002015 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002020 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002058 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002079 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002650 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0004305 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0004322 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0007193 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0007655 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0007874 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0009890 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0010818 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0011097 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0011951 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0012448 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0012704 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0025313 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0030890 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0031622 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0100704 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000028 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000076 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000126 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000139 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000543 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000787 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000821 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000826 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000870 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000938 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001331 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001629 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001631 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001642 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001643 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001647 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001655 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001903 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0011747 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0031253 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0040303 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0000327 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0000343 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0000518 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0000520 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0000541 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0000545 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0000572 ORPHA:90653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0001249 ORPHA:90653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0001634 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0002758 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0002829 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0003196 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0004327 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0005930 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0100734 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0000175 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0000407 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0000926 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0002652 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90653 Stickler syndrome type 1 HP:0005692 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000028 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000174 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000179 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000233 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000238 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000286 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000316 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000365 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000368 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000400 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000463 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000465 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000670 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000767 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001156 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001231 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001249 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001639 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001642 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001800 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0002002 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0002162 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0002209 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0002750 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0003196 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0004322 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0005108 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0009811 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0100840 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90654 Stickler syndrome type 2 HP:0000407 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90654 Stickler syndrome type 2 HP:0000488 ORPHA:90654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90654 Stickler syndrome type 2 HP:0000518 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90654 Stickler syndrome type 2 HP:0000541 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90654 Stickler syndrome type 2 HP:0000545 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90654 Stickler syndrome type 2 HP:0004327 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90654 Stickler syndrome type 2 HP:0007957 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90654 Stickler syndrome type 2 HP:0000175 ORPHA:90654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0001250 ORPHA:438216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0001263 ORPHA:438216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0002098 ORPHA:438216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0008872 ORPHA:438216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0002058 ORPHA:438216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0011344 ORPHA:438216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000218 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000219 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000252 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000276 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000286 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000293 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000297 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000324 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000348 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000430 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000431 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000455 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000463 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000506 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000545 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000582 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000637 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000736 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000739 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0001251 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0001332 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0002007 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0002136 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0002267 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0006481 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0006829 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0008572 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0010804 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0011081 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0011220 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0012899 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0100660 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0001321 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0002120 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0002334 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0005306 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0010733 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0011427 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0012157 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0100308 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0000238 ORPHA:2703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0001250 ORPHA:2703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0000010 ORPHA:2704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0000020 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0000028 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0000076 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0000083 ORPHA:2704 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0000126 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0000796 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0000822 ORPHA:2704 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0001959 ORPHA:2704 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0002019 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2704 Ochoa syndrome HP:0002607 ORPHA:2704 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0000407 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0000762 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002355 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002936 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0007108 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009053 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0000615 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0001288 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0001761 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002166 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002172 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002522 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002600 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0008944 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0008962 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009027 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009049 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009130 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0010829 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0010830 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0010832 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0011727 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0012074 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0012391 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0030211 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0030237 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0031006 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0000360 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0001171 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0001263 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0001765 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002141 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002540 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0003376 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0008110 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0008124 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009473 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009916 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0011476 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0012735 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000248 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000252 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000278 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000347 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000582 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000587 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000648 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001166 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001249 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001263 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001328 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001833 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0002094 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0002098 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0002878 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0005469 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000154 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000159 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000177 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000233 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000275 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000276 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000286 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000319 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000322 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000384 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000482 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000486 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000506 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000545 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000581 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000639 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000691 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001508 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001510 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0002223 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0002705 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0010547 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0011968 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0012745 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0045074 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001135 ORPHA:2707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001139 ORPHA:2707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0008665 ORPHA:2707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51083 Familial short QT syndrome HP:0012232 ORPHA:51083 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:51083 Familial short QT syndrome HP:0001662 ORPHA:51083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51083 Familial short QT syndrome HP:0001962 ORPHA:51083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51083 Familial short QT syndrome HP:0005110 ORPHA:51083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51083 Familial short QT syndrome HP:0001279 ORPHA:51083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51083 Familial short QT syndrome HP:0001645 ORPHA:51083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51083 Familial short QT syndrome HP:0001663 ORPHA:51083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51083 Familial short QT syndrome HP:0001678 ORPHA:51083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51083 Familial short QT syndrome HP:0004308 ORPHA:51083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0000762 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002460 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003202 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003474 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0007141 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0007220 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0011402 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001155 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001270 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001284 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001761 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002066 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002070 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002317 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002346 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002378 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002403 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002495 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003376 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003387 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0004463 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0007149 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0007327 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0007328 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0008944 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0009027 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0009053 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0009130 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0010831 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0010873 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0030237 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0000020 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0000407 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0000609 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001252 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001260 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002380 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002650 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003394 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003401 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003691 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0008956 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0008994 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0008997 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0012452 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0012473 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0012785 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0030319 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0100543 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002540 ORPHA:101085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0100521 ORPHA:97289 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0100634 ORPHA:97289 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0045026 ORPHA:97289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0100721 ORPHA:97289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0001824 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0002730 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0003118 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0003154 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0005345 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0007457 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0012735 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0030829 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0100568 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0100570 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0100749 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0000870 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0000938 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0002893 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0003072 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0004724 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0006767 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0008200 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0008261 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97289 Thymic neuroendocrine tumor HP:0011761 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370103 Primary dystonia, DYT17 type HP:0001260 ORPHA:370103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370103 Primary dystonia, DYT17 type HP:0001618 ORPHA:370103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370103 Primary dystonia, DYT17 type HP:0007325 ORPHA:370103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370103 Primary dystonia, DYT17 type HP:0000473 ORPHA:370103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370103 Primary dystonia, DYT17 type HP:0012179 ORPHA:370103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370103 Primary dystonia, DYT17 type HP:0001300 ORPHA:370103 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:370103 Primary dystonia, DYT17 type HP:0002120 ORPHA:370103 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000175 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000316 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000336 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000365 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000431 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000494 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000674 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000677 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0005916 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0001256 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0001376 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0001850 ORPHA:90650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0001852 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0002652 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0002684 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0002738 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0003042 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0004279 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0005048 ORPHA:90650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0005280 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0005640 ORPHA:90650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0006487 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0009623 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0009778 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0009882 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0010109 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90650 Otopalatodigital syndrome type 1 HP:0011001 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0001265 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0001288 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0001761 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0002460 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0002936 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0003202 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0003431 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0003448 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0007108 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0010871 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0002141 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0002751 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0003401 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0007131 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0008981 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0009113 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0010833 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0030834 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0006801 ORPHA:101081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000047 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000126 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000160 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000162 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000175 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000201 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000238 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000239 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000272 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000316 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000336 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000337 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000347 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000365 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000369 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000377 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000494 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000518 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000674 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000677 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000772 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000774 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001087 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0005916 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001249 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001263 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001321 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001508 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001539 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001654 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001671 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002084 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002475 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002652 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002684 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002990 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0003042 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0003196 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0004279 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0005048 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0005280 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0005640 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0006000 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0006487 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0008368 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0009702 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0009778 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0010109 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0011001 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0100258 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0100490 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002089 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002650 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002738 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002869 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0001324 ORPHA:101082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0000365 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0000615 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0000762 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0001284 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0002650 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0002922 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003202 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003236 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003469 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003477 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003712 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0001270 ORPHA:101082 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003474 ORPHA:101082 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000023 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000045 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000158 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000212 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000280 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000303 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000343 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000400 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000455 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000457 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000486 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000618 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000639 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000648 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000940 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000944 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000951 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001250 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001251 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001252 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001257 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001337 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001347 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001387 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001635 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001744 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001824 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002007 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002205 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002230 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002383 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002650 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002652 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002829 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0003307 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0003312 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0004322 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0004345 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0005280 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0005930 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0007325 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0007957 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0008046 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0010318 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0010729 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0100022 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0100490 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0100670 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001627 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002071 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002500 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000924 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0011951 ORPHA:354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0410263 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001638 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0100543 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0025013 ORPHA:354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0008166 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002376 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000943 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002015 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001332 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0040197 ORPHA:354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001508 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0011968 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001288 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002020 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001543 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0011471 ORPHA:354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001290 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0025190 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001263 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001433 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001007 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001789 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002808 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0009826 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000369 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002011 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000160 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002167 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0012523 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001643 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0000926 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001622 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0500049 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001072 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0002317 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:354 GM1 gangliosidosis HP:0001629 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0000158 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0001667 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0002136 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0002359 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0002515 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0002938 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003236 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003458 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003484 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003551 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003557 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003691 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003707 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003730 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0004311 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0008981 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0009046 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0030007 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0100284 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0100297 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0000276 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0001771 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0002650 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003391 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003722 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0025169 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0030051 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0002066 ORPHA:356 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0007340 ORPHA:356 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0012534 ORPHA:356 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0100543 ORPHA:356 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0000726 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0001260 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0001268 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0001284 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0001315 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0001317 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0002062 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0002071 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0002360 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0003401 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0011730 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0031006 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0410263 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0045084 ORPHA:356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000093 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000225 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000238 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000365 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000486 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000488 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000657 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000716 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000790 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000823 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000924 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0000938 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001000 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001103 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001251 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001252 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001337 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001373 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001387 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001394 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001522 ORPHA:355 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001637 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001654 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001697 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001744 ORPHA:355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001789 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001873 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001876 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001892 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001903 ORPHA:355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0001945 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002015 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002027 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002069 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002071 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002092 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002093 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002119 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002123 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002206 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002240 ORPHA:355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002376 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002653 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002750 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002754 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002757 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002758 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002797 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002804 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0002829 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0003330 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0004322 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0004374 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0004380 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0004382 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0006530 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0006824 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0007957 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0008064 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0008872 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0010702 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0010729 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0010885 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0011001 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0011227 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0012115 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0012378 ORPHA:355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:355 Gaucher disease HP:0100022 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000708 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001257 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001288 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002401 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002497 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002634 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0003418 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0007024 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0008480 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0012514 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0030892 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0040161 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0100543 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000712 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000718 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000726 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000737 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000741 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001268 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001269 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001297 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002063 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002293 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002506 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0003474 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0007256 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0012671 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0012672 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0030833 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002069 ORPHA:199354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002751 ORPHA:199354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0003657 ORPHA:199354 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0008162 ORPHA:35878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0012051 ORPHA:35878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0000825 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0001263 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0001328 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0002121 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0002197 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0002342 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0007018 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0008283 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0011198 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0012402 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001284 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001288 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001761 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0002378 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0002936 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0003376 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0003431 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0003444 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0008944 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0008954 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0009027 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0009053 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0011399 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0011727 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0030237 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0000407 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0000543 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001138 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001249 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001265 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001347 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0002313 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0003487 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0006801 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0007924 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0031866 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001270 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001284 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001288 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001760 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001761 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0002355 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0003431 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0003474 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0003693 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0007141 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0008110 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0008944 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0008954 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0009027 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0009063 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0030237 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0031936 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001265 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001337 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001385 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0002091 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0002313 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0002540 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0002650 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0003477 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0007108 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0007149 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0008081 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0008994 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0000365 ORPHA:101078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0000762 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0000763 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001249 ORPHA:101078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001251 ORPHA:101078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001284 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001288 ORPHA:101078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001337 ORPHA:101078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001761 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0002360 ORPHA:101078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0002460 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0002650 ORPHA:101078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0002808 ORPHA:101078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0003202 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0007141 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0007328 ORPHA:101078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000338 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000571 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000658 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001257 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001260 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001337 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001347 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002015 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002063 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002067 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002145 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002172 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002185 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002312 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002548 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0004373 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0006892 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0007058 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0007153 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0010522 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0025262 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0040081 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000605 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000716 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000746 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000751 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001250 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001263 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001332 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001336 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0011999 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0012675 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0012024 ORPHA:352 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0012379 ORPHA:352 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0012537 ORPHA:352 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0030272 ORPHA:352 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0410061 ORPHA:352 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0000028 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0000144 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0000518 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0000750 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0000786 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0000869 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0000876 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0000952 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001256 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001260 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001328 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001399 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0002013 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0002071 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0002174 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0002240 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0002345 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0004302 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0004349 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0008209 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0009088 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0011098 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0012758 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0030353 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0100543 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0000083 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001251 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001254 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001288 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001298 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001332 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001394 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001508 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001892 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001928 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0002014 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0002141 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0002910 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0011968 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0100806 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001250 ORPHA:352 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352 Galactosemia HP:0001541 ORPHA:352 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:351 Galactosialidosis HP:0000280 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:351 Galactosialidosis HP:0000365 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:351 Galactosialidosis HP:0000925 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:351 Galactosialidosis HP:0001249 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:351 Galactosialidosis HP:0001250 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:351 Galactosialidosis HP:0002652 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:351 Galactosialidosis HP:0003468 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:351 Galactosialidosis HP:0007957 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:351 Galactosialidosis HP:0010729 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0000980 ORPHA:46532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0001744 ORPHA:46532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0001903 ORPHA:46532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0002240 ORPHA:46532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0003330 ORPHA:46532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0011904 ORPHA:46532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000217 ORPHA:289390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001097 ORPHA:289390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000077 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000707 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000739 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000951 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001970 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0002829 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0003011 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0004431 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0005195 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0011850 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0012378 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0012532 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0031950 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000083 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000099 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000708 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000716 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000958 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000965 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000979 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001045 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001250 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001287 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001317 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001324 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001369 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001871 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001873 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001882 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001888 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001895 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0001897 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0002011 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0002613 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0002633 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0002665 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0002716 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0003326 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0003474 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0004302 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0004313 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0005407 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0005421 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0005523 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0006527 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0006530 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0006536 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0010702 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0012089 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0012219 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0012387 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0030880 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0031088 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0031246 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0031452 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0031983 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0045042 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0100614 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0100646 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0100653 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0100778 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0200042 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0200123 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0410008 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0000726 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0002072 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0002143 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0007141 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0009830 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0032018 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0100543 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0100583 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289390 Primary Sjögren syndrome HP:0200120 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0000763 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001284 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001761 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0007149 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0008944 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0040129 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0007328 ORPHA:101075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0000365 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001251 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001260 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001262 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001288 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001337 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0002463 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0002650 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0002808 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000033 ORPHA:347 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000037 ORPHA:347 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0100820 ORPHA:347 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000093 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000097 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000786 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000815 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000837 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0008214 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0008723 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000083 ORPHA:347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000100 ORPHA:347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000150 ORPHA:347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0000822 ORPHA:347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0010464 ORPHA:347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:347 Frasier syndrome HP:0002667 ORPHA:347 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:346 Quinquaud folliculitis decalvans HP:0001581 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:346 Quinquaud folliculitis decalvans HP:0001595 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:346 Quinquaud folliculitis decalvans HP:0002232 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:346 Quinquaud folliculitis decalvans HP:0004552 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:346 Quinquaud folliculitis decalvans HP:0010783 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:346 Quinquaud folliculitis decalvans HP:0100699 ORPHA:346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:346 Quinquaud folliculitis decalvans HP:0200039 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0000164 ORPHA:349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0000248 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0000280 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0000365 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0000821 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0000943 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0000975 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0001063 ORPHA:349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0001250 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0001252 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0001257 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0001263 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0001508 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0001597 ORPHA:349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0001626 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0001640 ORPHA:349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0001999 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0002240 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0002510 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0002808 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0003199 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0005264 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0005595 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0007256 ORPHA:349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0007957 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0008155 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0008430 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0010864 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0011220 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0011276 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:349 Fucosidosis HP:0100578 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001249 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001250 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001270 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002119 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002539 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0007033 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0007266 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0000565 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001263 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001317 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001320 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002141 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002463 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0007256 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0010864 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0012110 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0025190 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0000252 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0000486 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002123 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002365 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0010819 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0011147 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0040194 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001942 ORPHA:348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001943 ORPHA:348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0003128 ORPHA:348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0012379 ORPHA:348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002013 ORPHA:348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002014 ORPHA:348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002149 ORPHA:348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0003162 ORPHA:348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0004913 ORPHA:348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0000737 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0000980 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001249 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001250 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001252 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001259 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001262 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001397 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001649 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001946 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001998 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002094 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002098 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002119 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002240 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002329 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002876 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002910 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0003265 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0004372 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0004879 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0005949 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0006582 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0040301 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0003348 ORPHA:348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0001249 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0001269 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0002539 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0006872 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0006891 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0006956 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0007359 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0012758 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0002069 ORPHA:101071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0011185 ORPHA:101071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0012704 ORPHA:101071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0002123 ORPHA:101071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0012469 ORPHA:101071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0020220 ORPHA:101071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0000979 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001025 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001063 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001250 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001251 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001263 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001369 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001376 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001510 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001954 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002014 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002027 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002076 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002239 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002240 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002586 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002633 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002716 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002829 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0003261 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0003326 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0003565 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0005214 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0010783 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0011107 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0200034 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33208 Idiopathic hypersomnia HP:0001262 ORPHA:33208 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33208 Idiopathic hypersomnia HP:0002360 ORPHA:33208 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33208 Idiopathic hypersomnia HP:0100786 ORPHA:33208 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0000093 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0000100 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0000112 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0000121 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0000988 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0001055 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0001250 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0001287 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0001369 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0001541 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0001658 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0001701 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0001733 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0001744 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0001945 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002014 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002017 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002019 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002024 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002027 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002102 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002586 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002633 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002716 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002745 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002758 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0002829 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0003326 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0003565 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0005214 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0005244 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0006554 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0010741 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0010783 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0011675 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0100749 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:342 Familial Mediterranean fever HP:0100796 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:345 Dissecting cellulitis of the scalp HP:0000969 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:345 Dissecting cellulitis of the scalp HP:0000989 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:345 Dissecting cellulitis of the scalp HP:0001482 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:345 Dissecting cellulitis of the scalp HP:0001581 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:345 Dissecting cellulitis of the scalp HP:0001595 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:345 Dissecting cellulitis of the scalp HP:0100658 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:345 Dissecting cellulitis of the scalp HP:0100809 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0000127 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0000407 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0000848 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0000859 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0001249 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0001250 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0001251 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0001263 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0002197 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0002900 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0002917 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0005567 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0012591 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0012606 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0030083 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0200114 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0000805 ORPHA:199343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0001959 ORPHA:199343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0002345 ORPHA:199343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0001272 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0001344 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0002355 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0002540 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0003477 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0007182 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199343 EAST syndrome HP:0007340 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001919 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001945 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0003259 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0011037 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0012213 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0030005 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0032169 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0100520 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000093 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000099 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000622 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000967 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001262 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001324 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001649 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001873 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001962 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001970 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001974 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002013 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002018 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002027 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002315 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002615 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0003326 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0003418 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0004325 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0004729 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0012378 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0025143 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0030783 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000713 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000790 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000975 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001289 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001903 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002014 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002090 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002094 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002098 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002153 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002202 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002248 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002905 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002910 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0011896 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0012735 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0031273 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0031364 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0100519 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0100598 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0100785 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000421 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000822 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001259 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002170 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002249 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002878 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0011029 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:340 Hemorrhagic fever-renal syndrome HP:0012622 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:438274 GCGR-related hyperglucagonemia HP:0030688 ORPHA:438274 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:438274 GCGR-related hyperglucagonemia HP:0001081 ORPHA:438274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438274 GCGR-related hyperglucagonemia HP:0002027 ORPHA:438274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438274 GCGR-related hyperglucagonemia HP:0002894 ORPHA:438274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438274 GCGR-related hyperglucagonemia HP:0012440 ORPHA:438274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438274 GCGR-related hyperglucagonemia HP:0030404 ORPHA:438274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438274 GCGR-related hyperglucagonemia HP:0000819 ORPHA:438274 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:438274 GCGR-related hyperglucagonemia HP:0002044 ORPHA:438274 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:438274 GCGR-related hyperglucagonemia HP:0010280 ORPHA:438274 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:438274 GCGR-related hyperglucagonemia HP:0031181 ORPHA:438274 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0005143 ORPHA:99050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0030680 ORPHA:99050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0000961 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001508 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001631 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001635 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001643 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0002205 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0002875 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0012382 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0032092 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001629 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001636 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001669 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0002092 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0011604 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0011661 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0012303 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0030148 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0031014 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001680 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0002089 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0004383 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0004935 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0012020 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0031934 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000505 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000543 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000544 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000648 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000649 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000758 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000762 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001250 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001257 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001270 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001272 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001324 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001347 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002015 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002353 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002376 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002521 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0004302 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0005484 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0009062 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0011968 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012087 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012696 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012736 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012751 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0025112 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0040288 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001510 ORPHA:485421 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0011097 ORPHA:485421 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0001612 ORPHA:141127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0001561 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002098 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002778 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0005607 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0011661 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0030680 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0030828 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0030923 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0000069 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0000077 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0000119 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0000363 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0000961 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0001562 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0001629 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0001643 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0001791 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002023 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002088 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002094 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002101 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002245 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002247 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002575 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002577 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0004935 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0005151 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0012718 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0012768 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0031935 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0100867 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0000707 ORPHA:141127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0002781 ORPHA:141127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0004383 ORPHA:141127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141127 Congenital tracheal stenosis HP:0025426 ORPHA:141127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0001004 ORPHA:79452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0000034 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0000962 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0001785 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0002619 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0002624 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0003550 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0010741 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0100658 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0100797 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0000286 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0000708 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0001328 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0008069 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0100725 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0200058 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0001055 ORPHA:79452 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79452 Milroy disease HP:0001999 ORPHA:79452 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0000054 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0000225 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0000519 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0000568 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0000961 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0000978 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0001649 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0001667 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0001712 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0001892 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0001933 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0001945 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0002027 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0002179 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0002580 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0007185 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0008151 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0008734 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0009723 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0011029 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0011884 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0012223 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0012886 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0030680 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0100759 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:335 Congenital fibrinogen deficiency HP:0100845 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0025081 ORPHA:79455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0000989 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0001034 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0002014 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0012733 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0025473 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0025533 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0030350 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0040186 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0200035 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0200036 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0000953 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0001072 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0002013 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0002018 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0002027 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0002094 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0002315 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0002615 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0008066 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0010783 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0031284 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0031901 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0040189 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0100585 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0200041 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0007583 ORPHA:79455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0011971 ORPHA:79455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0100665 ORPHA:79455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0100845 ORPHA:79455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79455 Cutaneous mastocytoma HP:0002716 ORPHA:79455 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001743 ORPHA:79456 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002716 ORPHA:79456 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0005547 ORPHA:79456 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0005561 ORPHA:79456 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0000989 ORPHA:79456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0011354 ORPHA:79456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0025081 ORPHA:79456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0031284 ORPHA:79456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0031901 ORPHA:79456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001025 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001072 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002013 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002014 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002315 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002615 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0004395 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0008066 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0025533 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0100827 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0100845 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0200041 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001019 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001392 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001945 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002027 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002239 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002240 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0009123 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0011971 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0030828 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79456 Diffuse cutaneous mastocytosis HP:0040189 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0000365 ORPHA:337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0000501 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001249 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001250 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001376 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001482 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001508 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001596 ORPHA:337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001822 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001903 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0002093 ORPHA:337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0003306 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0003468 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0004209 ORPHA:337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0010054 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0010058 ORPHA:337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0010109 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0011987 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0011989 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:337 Fibrodysplasia ossificans progressiva HP:0100240 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0100845 ORPHA:79457 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0011354 ORPHA:79457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0025081 ORPHA:79457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0000989 ORPHA:79457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0010783 ORPHA:79457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0012733 ORPHA:79457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0025507 ORPHA:79457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0000737 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0001945 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002013 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002014 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002018 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002027 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002315 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002653 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0008066 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0011971 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0020172 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0031284 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0031901 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002094 ORPHA:79457 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0000028 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0000175 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0000218 ORPHA:376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0000324 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0000365 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0000767 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0001376 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0001883 ORPHA:376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0002650 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0003199 ORPHA:376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0004209 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0004322 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0006101 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:376 Gordon syndrome HP:0100490 ORPHA:376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0000083 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0000093 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0000541 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0000790 ORPHA:375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0000979 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0001369 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0001903 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0001945 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0002093 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0002105 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0002113 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0002633 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0002829 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0002960 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0003326 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0006335 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0012735 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0100749 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:375 Anti-glomerular basement membrane disease HP:0100820 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000194 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000322 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000337 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000348 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000463 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000486 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000490 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000574 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000582 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000609 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000729 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000733 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0000750 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0001250 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0001252 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0001770 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0002079 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0002119 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0002335 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0003196 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0006913 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0010864 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0011968 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228384 5q14.3 microdeletion syndrome HP:0012639 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000028 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000044 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000238 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000248 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000286 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000303 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000316 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000431 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000464 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000486 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000501 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000506 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000518 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000612 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000670 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0000995 ORPHA:377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0001156 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0001166 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0001249 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0002007 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0002514 ORPHA:377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0002650 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0002664 ORPHA:377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0002937 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0002948 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0004408 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0008422 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0010610 ORPHA:377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:377 Gorlin syndrome HP:0010612 ORPHA:377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0001324 ORPHA:371 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0001903 ORPHA:371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0002149 ORPHA:371 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0002486 ORPHA:371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0003202 ORPHA:371 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0009051 ORPHA:371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000003 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000023 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000028 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000047 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000072 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000073 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000098 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000126 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000154 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000158 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000175 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000204 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000256 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000280 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000286 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000303 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000316 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000368 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000431 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000463 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000465 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000470 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000494 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000767 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000772 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000776 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001162 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001249 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001250 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001252 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001263 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001274 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001305 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001374 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001522 ORPHA:373 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001537 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001539 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001561 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001608 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001609 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001629 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001631 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001638 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001657 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001744 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001748 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001762 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001769 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001770 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001773 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001792 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001831 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001943 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002164 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002167 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002240 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002558 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0030680 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002650 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002664 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002667 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002705 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002884 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002948 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0003006 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0003196 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0003212 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0003422 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0004209 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0004510 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0005616 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0006101 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0008736 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0009536 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0010318 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0011039 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0011304 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0011710 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0100490 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0000790 ORPHA:329918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0000093 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0000793 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0000822 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0003259 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0003774 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0005421 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0012574 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0012622 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0025364 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0030888 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0031047 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0000100 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0000572 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0001919 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0002719 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0002960 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0009125 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0011510 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0025567 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0030469 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0030506 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329918 C3 glomerulopathy HP:0045042 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0012379 ORPHA:370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0030272 ORPHA:370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000707 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001397 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001508 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001510 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001946 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002013 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002014 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002155 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002194 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002240 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002910 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003124 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003162 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000147 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000823 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000858 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000876 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001252 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001324 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001396 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002360 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002913 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003202 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003236 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003323 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003326 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003394 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003546 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0012378 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0030232 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0100607 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000750 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001394 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001395 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001402 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001627 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001638 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001744 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001947 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002040 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003201 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003325 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0005144 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0006580 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0012028 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000737 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000739 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000815 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000822 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000876 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001265 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001266 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001289 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001657 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002094 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002176 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002514 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003394 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003401 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003472 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003739 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003761 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0004305 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0004349 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0004438 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0009642 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010041 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0011458 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0011869 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0012049 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0025027 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0100749 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002199 ORPHA:79443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003528 ORPHA:79443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000852 ORPHA:79443 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000311 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002901 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002905 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003165 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003456 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0004322 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0008227 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000293 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000470 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000518 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000639 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000684 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000824 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001156 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001249 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001513 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002135 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002591 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002684 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0004704 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0005280 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0006297 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0006960 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010027 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010044 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010047 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010049 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010743 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0011001 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0011986 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0012185 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000407 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000486 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000509 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000585 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000716 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0008202 ORPHA:79443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0030057 ORPHA:79443 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000938 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000939 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001508 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0002240 ORPHA:369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0006568 ORPHA:369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000823 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001510 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001943 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001946 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0002910 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000737 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001252 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001270 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001395 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0002360 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0003077 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0003270 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0003710 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0004322 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0004913 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0006580 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0030973 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000077 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000093 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001394 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001402 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001639 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0011997 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000852 ORPHA:79444 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002901 ORPHA:79444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002905 ORPHA:79444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003165 ORPHA:79444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003456 ORPHA:79444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0008227 ORPHA:79444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000293 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000311 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000470 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000518 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000639 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000684 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000824 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001156 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001249 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001513 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002135 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002591 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0004322 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0004704 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0005280 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0006297 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0006960 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0010044 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0010047 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0010049 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0010743 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0011986 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0012185 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000509 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000716 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000737 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000739 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000815 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000876 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001265 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001289 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001657 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002094 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002514 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003394 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003401 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003472 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003739 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003761 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0009642 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0010041 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0011001 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0011458 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0012049 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0025027 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0100749 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002199 ORPHA:79444 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0008202 ORPHA:79444 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0030057 ORPHA:79444 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003236 ORPHA:368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003546 ORPHA:368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0009051 ORPHA:368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0030231 ORPHA:368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0030234 ORPHA:368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003201 ORPHA:368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003652 ORPHA:368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003710 ORPHA:368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0008305 ORPHA:368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0040319 ORPHA:368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0001324 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0001639 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0001649 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0001919 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0002875 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003202 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003738 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0008967 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0009073 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0012378 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0030973 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0002015 ORPHA:368 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0005216 ORPHA:368 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0012622 ORPHA:368 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0000311 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0001156 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0004322 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0009237 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0010044 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0010047 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0010743 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0011986 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0000750 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0001249 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0001511 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0001513 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0004180 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0009650 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0025027 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0000818 ORPHA:79445 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0002901 ORPHA:79445 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0002905 ORPHA:79445 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79445 Pseudopseudohypoparathyroidism HP:0003165 ORPHA:79445 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0000750 ORPHA:141152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0002094 ORPHA:141152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0011470 ORPHA:141152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0011968 ORPHA:141152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0000171 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0000347 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0001824 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0002098 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0002781 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0006265 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0011471 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0000175 ORPHA:141152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0005483 ORPHA:141152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0010566 ORPHA:141152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0011951 ORPHA:141152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0012478 ORPHA:141152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001324 ORPHA:365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0009073 ORPHA:365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0010471 ORPHA:365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0012379 ORPHA:365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001265 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001270 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001284 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001508 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001640 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001712 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002093 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002240 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002355 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002747 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002875 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003236 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003391 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003458 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003546 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003551 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0007340 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0008872 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0011947 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0012378 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0025435 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0030148 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0030231 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0031964 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000158 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000183 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000297 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000365 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000508 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000939 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001260 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001639 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002015 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002098 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002326 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002540 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002633 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002650 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002878 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003307 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003324 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0004944 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0005165 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0005216 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0006824 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0008947 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0009113 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0010535 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0012532 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0012727 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0012764 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0030195 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0030196 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0031310 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0032092 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:3000062 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001371 ORPHA:365 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002607 ORPHA:365 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0007002 ORPHA:365 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0100543 ORPHA:365 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0100750 ORPHA:365 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0000293 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0000991 ORPHA:364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0001250 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0001252 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0001943 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0002149 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0002205 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0002719 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0003077 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0004322 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0100543 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001410 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0002240 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0011354 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0012269 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0031331 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0500032 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001270 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001290 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001508 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001644 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0002910 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0003073 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0003198 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001371 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001394 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001399 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001409 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001433 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001541 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001561 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001635 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001790 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001989 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0002040 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0002093 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0002098 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0003202 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0003645 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0006829 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0008151 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0000293 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0001256 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0001943 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0002155 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0002721 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0003198 ORPHA:366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0004322 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000308 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000327 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000340 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000343 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000358 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000377 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000463 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000496 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000506 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000508 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000561 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000574 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0001092 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0002553 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0004209 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0004422 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0005180 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0012471 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0000083 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0000225 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0000365 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0000421 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0000520 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0000573 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0000965 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0000979 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0000980 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0001025 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0001251 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0001297 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0001635 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0001744 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0001874 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0001897 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0001909 ORPHA:33226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0001945 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002014 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002024 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002039 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002076 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002093 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002113 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002202 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002239 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002240 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002321 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002354 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002633 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002665 ORPHA:33226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002716 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0002719 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0003565 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0004372 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0005508 ORPHA:33226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0006824 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0008046 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0009830 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0010741 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0010841 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0012378 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0100539 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0100724 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33226 Waldenström macroglobulinemia HP:0100778 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0000826 ORPHA:361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0004319 ORPHA:361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0025451 ORPHA:361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0000010 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0000027 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0000851 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0001249 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0001325 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0001639 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002445 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0100618 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002960 ORPHA:361 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0000846 ORPHA:361 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0008163 ORPHA:361 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0001508 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002615 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0007440 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0011043 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0012734 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0031076 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0031214 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0000127 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0001824 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002013 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002014 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002019 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002039 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002153 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002173 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002574 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002719 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0002902 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0012432 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0012605 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0000028 ORPHA:361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:361 Familial glucocorticoid deficiency HP:0000098 ORPHA:361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0012174 ORPHA:360 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0025461 ORPHA:360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0000572 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0001273 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0001324 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0000712 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0002181 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0002315 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0002463 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0002500 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0003470 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0012378 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0012638 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0001250 ORPHA:360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:360 Glioblastoma HP:0002354 ORPHA:360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0000076 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0000160 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0000232 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0000248 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0000286 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0000343 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0000407 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0000431 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0000506 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0000637 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0001252 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0001263 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0001291 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0001629 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0001631 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0001773 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0002020 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0002553 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0007018 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228399 8q12 microduplication syndrome HP:0009921 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0007359 ORPHA:101046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0008765 ORPHA:101046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0011185 ORPHA:101046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002381 ORPHA:101046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0011182 ORPHA:101046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002349 ORPHA:101046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002367 ORPHA:101046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0011154 ORPHA:101046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0012332 ORPHA:101046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0031951 ORPHA:101046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0000708 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0000716 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002069 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002076 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002197 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0007334 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0100710 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0001249 ORPHA:101046 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0410263 ORPHA:101046 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000028 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000046 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000135 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000164 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000248 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000289 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000316 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000369 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000430 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000463 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000486 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000506 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000568 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000582 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000639 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000698 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001256 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001274 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001362 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001511 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001562 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001596 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0002007 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0002084 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0002213 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0002335 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0002342 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0004440 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0005280 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0011803 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0030114 ORPHA:178400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0040081 ORPHA:178400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0003738 ORPHA:178400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0008963 ORPHA:178400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0009073 ORPHA:178400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0003325 ORPHA:178400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0003438 ORPHA:178400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0008954 ORPHA:178400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0009005 ORPHA:178400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0031177 ORPHA:178400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0000467 ORPHA:178400 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0003474 ORPHA:178400 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:178400 Distal myopathy with anterior tibial onset HP:0003805 ORPHA:178400 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000639 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0001010 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0001875 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0001892 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0002721 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0007443 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0007730 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000083 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000421 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000483 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000486 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000518 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000545 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000587 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000613 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000646 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000649 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000978 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0001107 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0002206 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0005599 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0400008 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000505 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000527 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000682 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000962 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0000995 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0001072 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0001638 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0001824 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0001872 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0002024 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0002027 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0002039 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0002094 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0002239 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0002671 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0006739 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79430 Hermansky-Pudlak syndrome HP:0012378 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101041 Familial hypofibrinogenemia HP:0000225 ORPHA:101041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101041 Familial hypofibrinogenemia HP:0000421 ORPHA:101041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101041 Familial hypofibrinogenemia HP:0001892 ORPHA:101041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101041 Familial hypofibrinogenemia HP:0002239 ORPHA:101041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0000505 ORPHA:79431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0000587 ORPHA:79431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0000613 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0000639 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0000649 ORPHA:79431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0000962 ORPHA:79431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0001010 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0001022 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0001072 ORPHA:79431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0001107 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0001480 ORPHA:79431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0002671 ORPHA:79431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0005599 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0006739 ORPHA:79431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0007730 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79431 Oculocutaneous albinism type 1A HP:0007750 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0000539 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0000613 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0000635 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0000639 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0001010 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0001100 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0001480 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0002226 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0005599 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0007663 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0007703 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0007730 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0007750 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0007988 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0011364 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0012805 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0025551 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0002227 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0002671 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0006739 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0012056 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0030856 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0200098 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79432 Oculocutaneous albinism type 2 HP:0007481 ORPHA:79432 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002900 ORPHA:358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001324 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001508 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001657 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002027 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002632 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002917 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000017 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000093 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000128 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000805 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000823 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001952 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000855 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002017 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002901 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002918 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0003394 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0030083 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0200114 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000020 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000097 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000360 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000622 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000872 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000934 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0000975 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001279 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001663 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001698 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001891 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001947 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001953 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001959 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001962 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001970 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001994 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001997 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002014 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002019 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002098 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0001262 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002315 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002321 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002514 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002619 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002829 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002894 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0002897 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0003201 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0003326 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0003401 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0003470 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0005135 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0005978 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0006789 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0009800 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0011736 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0012248 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0012250 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0012364 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0025072 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0030880 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0007359 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0100324 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0100647 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0100651 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:358 Gitelman syndrome HP:0100785 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001251 ORPHA:99027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0012332 ORPHA:99027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001257 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001288 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001324 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001337 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001347 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002066 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002493 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002936 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0003487 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0005341 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0006827 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0006958 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007256 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007366 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007377 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0011931 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0030890 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000010 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000012 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000016 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000496 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000639 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000802 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000970 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001260 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001276 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001278 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001310 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001371 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002015 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002019 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002045 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002064 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002075 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002080 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002169 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002200 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002273 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002345 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002599 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0003326 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0004302 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0004395 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0005968 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0006886 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007351 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007360 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007369 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007370 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007480 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0010831 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0010845 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0011951 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0100543 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0100639 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000407 ORPHA:99027 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000708 ORPHA:99027 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000726 ORPHA:99027 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002922 ORPHA:99027 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0000635 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0000639 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0001010 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0001480 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0002297 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0007730 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0011358 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0000486 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0002226 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0002227 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0025551 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0100814 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79433 Oculocutaneous albinism type 3 HP:0200098 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0000486 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0000505 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0000587 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0000613 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0000639 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0000995 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0001010 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0001022 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0001072 ORPHA:79434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0001480 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0002671 ORPHA:79434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0002861 ORPHA:79434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0005599 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0006739 ORPHA:79434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0007703 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0007730 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79434 Oculocutaneous albinism type 1B HP:0007750 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0040075 ORPHA:90695 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0000044 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0000141 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0000457 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0000789 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0000824 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0001510 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0001943 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0002615 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0002920 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0004322 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0008245 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0008734 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0009888 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0010311 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0010627 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0012378 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0040086 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0000823 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0000839 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0000938 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0002019 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0002750 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0005625 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0008187 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0011755 ORPHA:90695 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90695 Non-acquired panhypopituitarism HP:0012731 ORPHA:90695 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0000639 ORPHA:79435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0007663 ORPHA:79435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0007703 ORPHA:79435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0007750 ORPHA:79435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0000613 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0001010 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0001022 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0001072 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0001107 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0005599 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0007730 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0011364 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0025551 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0003764 ORPHA:79435 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79435 Oculocutaneous albinism type 4 HP:0008069 ORPHA:79435 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0001249 ORPHA:23 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0001251 ORPHA:23 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0001987 ORPHA:23 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0002353 ORPHA:23 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0003217 ORPHA:23 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0003218 ORPHA:23 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0003355 ORPHA:23 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0004322 ORPHA:23 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0005961 ORPHA:23 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0009886 ORPHA:23 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:23 Argininosuccinic aciduria HP:0011362 ORPHA:23 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000232 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000233 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000252 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000319 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000431 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000455 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000767 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0001249 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0001270 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0001510 ORPHA:73273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0001511 ORPHA:73273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0002750 ORPHA:73273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0004279 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0004322 ORPHA:73273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0006610 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0030084 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0000467 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0000473 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0001263 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0001319 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0001558 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0002460 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0002515 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003236 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003327 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003391 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003458 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003551 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003555 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003701 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003715 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003736 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003798 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003805 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0006785 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0010628 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0012899 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97240 Zebra body myopathy HP:0003713 ORPHA:97240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0000505 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0000649 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0000708 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0001250 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0002540 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0007359 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0007367 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0007371 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0000639 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0000718 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0000752 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0001251 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0001257 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0001268 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0001272 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0001310 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0001347 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0002075 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0002078 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0002120 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0002172 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0002197 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0002312 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0002317 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0002360 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0002463 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0007015 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0010841 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0010845 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0010850 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0011166 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0011193 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0011442 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0030891 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0000729 ORPHA:228360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0000738 ORPHA:228360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0000739 ORPHA:228360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0001337 ORPHA:228360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228360 CLN5 disease HP:0008770 ORPHA:228360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000252 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000399 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000407 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000708 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000736 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000752 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000855 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001249 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001256 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001508 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001511 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001518 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001999 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0004322 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0007018 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0008527 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0008619 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0008846 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0008850 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0008897 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000135 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000153 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000347 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000684 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000939 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0002750 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0003265 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0004209 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0006266 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0030084 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000294 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000508 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000545 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000954 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000957 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001270 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001943 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001956 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0002162 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0007911 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0011120 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0011220 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0000962 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0001019 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0001824 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0004396 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0007475 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0008064 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0008066 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0000992 ORPHA:312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0000982 ORPHA:312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0100780 ORPHA:312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0200042 ORPHA:312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002134 ORPHA:25 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0003150 ORPHA:25 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0012379 ORPHA:25 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001260 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001332 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001334 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002015 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002275 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002305 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002315 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002339 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0004481 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0007132 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0009716 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0011968 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0012704 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0012753 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0031982 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0040194 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0100954 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0000573 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0000726 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001250 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001251 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001337 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001373 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002063 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002072 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002086 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002119 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002321 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002376 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002451 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002500 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0003162 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0003546 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0006829 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0007185 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0012469 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0100309 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0100543 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0009830 ORPHA:25 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0012622 ORPHA:25 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000252 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000488 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000646 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001249 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001250 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001252 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001254 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001263 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001508 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001980 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0011968 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0012378 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000238 ORPHA:26 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000708 ORPHA:26 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001288 ORPHA:26 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0030680 ORPHA:26 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0100022 ORPHA:26 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000988 ORPHA:26 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002373 ORPHA:101039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000708 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000718 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000722 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000739 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000750 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0001249 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0001270 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002069 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002133 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0010818 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0011169 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0012433 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000729 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000752 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0001256 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0001263 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002121 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002123 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002187 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002342 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0007270 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0010819 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0010864 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0011172 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0007359 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0100710 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000709 ORPHA:101039 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0100738 ORPHA:101039 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0000467 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0001290 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0002093 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0002650 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0003198 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0003306 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0011842 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0001265 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0002090 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0002421 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0002987 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0003089 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0003202 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0003273 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0003307 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0030878 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0031546 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0001263 ORPHA:97244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0002515 ORPHA:97244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97244 Rigid spine syndrome HP:0003391 ORPHA:97244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001942 ORPHA:20 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001958 ORPHA:20 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001987 ORPHA:20 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0003344 ORPHA:20 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000741 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001250 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001252 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001254 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001903 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001988 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002039 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002149 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002151 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002240 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002353 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002572 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002789 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002910 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0006561 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0006582 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0008151 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000952 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000969 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000980 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001256 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001259 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001265 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001298 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001336 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001824 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001882 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001894 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001944 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001945 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001974 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002014 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002104 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002342 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002521 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002615 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002919 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0010864 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0012378 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000252 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001251 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001257 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001260 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001325 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001644 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001695 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001735 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002045 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002352 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0011099 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012103 ORPHA:330050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000639 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000648 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001250 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001263 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001344 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002133 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002151 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002376 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002540 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012707 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0410263 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000486 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001272 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001332 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001337 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001488 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002069 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002123 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002355 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002381 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002384 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002506 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002650 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0003202 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0006801 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0007359 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0010553 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0011471 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012569 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0000708 ORPHA:22 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0001249 ORPHA:22 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0001251 ORPHA:22 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0001252 ORPHA:22 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0001263 ORPHA:22 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0001939 ORPHA:22 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0002069 ORPHA:22 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0002123 ORPHA:22 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0002133 ORPHA:22 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0000083 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0000648 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001249 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001250 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001251 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001252 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001254 ORPHA:27 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001259 ORPHA:27 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001263 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001266 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001638 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001733 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001873 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001882 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001903 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001944 ORPHA:27 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001972 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001987 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002017 ORPHA:27 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002093 ORPHA:27 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002167 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002240 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002273 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002385 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002721 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0000083 ORPHA:28 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001249 ORPHA:28 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001252 ORPHA:28 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001254 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001259 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001263 ORPHA:28 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001508 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001903 ORPHA:28 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001944 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001987 ORPHA:28 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0002017 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0002093 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0002240 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0000239 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0000252 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0000268 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0000325 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0000368 ORPHA:29 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0000494 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0000518 ORPHA:29 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0000592 ORPHA:29 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0001249 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0001250 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0001251 ORPHA:29 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0001252 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0001263 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0001744 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0002120 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0002750 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29 Mevalonic aciduria HP:0004322 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0001028 ORPHA:141179 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0007466 ORPHA:141179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0007618 ORPHA:141179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0031449 ORPHA:141179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0100585 ORPHA:141179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0001015 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0001635 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0001873 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0031207 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0100784 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0410266 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141179 Non-involuting congenital hemangioma HP:0012329 ORPHA:141179 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0002197 ORPHA:307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0002392 ORPHA:307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0007000 ORPHA:307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0000153 ORPHA:307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0000496 ORPHA:307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0002121 ORPHA:307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0002373 ORPHA:307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0007207 ORPHA:307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0000718 ORPHA:307 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0002133 ORPHA:307 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:307 Juvenile myoclonic epilepsy HP:0001249 ORPHA:307 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0002372 ORPHA:306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0002104 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0002266 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0002384 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0007334 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0007359 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0010818 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0011153 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0011167 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0011169 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0007359 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0000961 ORPHA:306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0001276 ORPHA:306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0002069 ORPHA:306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0002121 ORPHA:306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0045084 ORPHA:306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0002133 ORPHA:306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0011171 ORPHA:306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0011182 ORPHA:306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0002361 ORPHA:306 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:306 Benign familial infantile epilepsy HP:0410263 ORPHA:306 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:314802 Short stature due to partial GHR deficiency HP:0000823 ORPHA:314802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314802 Short stature due to partial GHR deficiency HP:0002750 ORPHA:314802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314802 Short stature due to partial GHR deficiency HP:0001510 ORPHA:314802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314802 Short stature due to partial GHR deficiency HP:0004322 ORPHA:314802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314802 Short stature due to partial GHR deficiency HP:0001943 ORPHA:314802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314802 Short stature due to partial GHR deficiency HP:0011800 ORPHA:314802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314802 Short stature due to partial GHR deficiency HP:0030353 ORPHA:314802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0000408 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0000508 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0000519 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0001252 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0001263 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0001315 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0001583 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0002079 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0003128 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0009062 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0012343 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0030089 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0001324 ORPHA:330054 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0001250 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0002085 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0002126 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0002269 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0002282 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0002349 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0003330 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0007359 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0011818 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0032046 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0045084 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0430005 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0000290 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0001338 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0002057 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0002367 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0002435 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0002475 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0011195 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0012013 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0025373 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0031006 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101030 Subependymal nodular heterotopia HP:0100022 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0001336 ORPHA:308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0002070 ORPHA:308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0002392 ORPHA:308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0007000 ORPHA:308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0001251 ORPHA:308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0001260 ORPHA:308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0002080 ORPHA:308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0000726 ORPHA:308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0000992 ORPHA:308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0001249 ORPHA:308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0001742 ORPHA:137914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0011109 ORPHA:137914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0031416 ORPHA:137914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0000961 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0001363 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0001601 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0001607 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0002098 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0002205 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0002779 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0002781 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0005321 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0011968 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0030215 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0030842 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137914 Choanal atresia HP:0010442 ORPHA:137914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0000951 ORPHA:220402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0001000 ORPHA:220402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0001053 ORPHA:220402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002015 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002017 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002020 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002092 ORPHA:220402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002206 ORPHA:220402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002960 ORPHA:220402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0008366 ORPHA:220402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0009473 ORPHA:220402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0100579 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0100585 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0100958 ORPHA:220402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220402 Limited cutaneous systemic sclerosis HP:0200042 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0001051 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0001053 ORPHA:302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0001581 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0002715 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0002860 ORPHA:302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0007565 ORPHA:302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0100585 ORPHA:302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0200034 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0200035 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0200039 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:302 Epidermodysplasia verruciformis HP:0200043 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0001320 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0001344 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002079 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002119 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002126 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002350 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002363 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002415 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002421 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0003236 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0007361 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0008947 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0010864 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0011197 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0011344 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0025336 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0030046 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0031882 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0031936 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0000518 ORPHA:370997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0000556 ORPHA:370997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0000557 ORPHA:370997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0011003 ORPHA:370997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0000618 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0000716 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0001262 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0001262 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0012689 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0025406 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0000016 ORPHA:228371 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0000217 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0000508 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0000651 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0001260 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0001324 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0002014 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0002015 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0002017 ORPHA:228371 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0002019 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0002027 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0002747 ORPHA:228371 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0003470 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0006543 ORPHA:228371 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0006597 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0006824 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0011499 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0011675 ORPHA:228371 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228371 Foodborne botulism HP:0100021 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0001249 ORPHA:35 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0001263 ORPHA:35 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0001638 ORPHA:35 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0001943 ORPHA:35 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0001987 ORPHA:35 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0001992 ORPHA:35 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0002019 ORPHA:35 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0002240 ORPHA:35 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0003353 ORPHA:35 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0010978 ORPHA:35 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35 Propionic acidemia HP:0011675 ORPHA:35 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000023 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000028 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000047 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000098 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000256 ORPHA:36 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000260 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000269 ORPHA:36 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000316 ORPHA:36 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000340 ORPHA:36 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000407 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000776 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0000889 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0001162 ORPHA:36 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0001199 ORPHA:36 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0001305 ORPHA:36 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0007360 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0007370 ORPHA:36 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36 Acrocallosal syndrome HP:0010864 ORPHA:36 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000157 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000206 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000221 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000492 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000498 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000505 ORPHA:37 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000509 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000534 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000613 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000712 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0000958 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0001508 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0001596 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0001597 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0001807 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0001818 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0001824 ORPHA:37 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0002024 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0002028 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0002039 ORPHA:37 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0002120 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0004322 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0004396 ORPHA:37 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0008066 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0008402 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0010783 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0011354 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0100825 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0200020 ORPHA:37 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0200039 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37 Acrodermatitis enteropathica HP:0200042 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0001394 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0001433 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0001873 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0001903 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0010903 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0012202 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0000056 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0000077 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0000969 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0001009 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0001789 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0001999 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0100678 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0001263 ORPHA:101028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0001631 ORPHA:101028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0001680 ORPHA:101028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0002795 ORPHA:101028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101028 Transaldolase deficiency HP:0200128 ORPHA:101028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000085 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000158 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000162 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000218 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000219 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000293 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000341 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000343 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000347 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000368 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000378 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000405 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000463 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000527 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000664 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001249 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001263 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001513 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002086 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002553 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0004322 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0011842 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000252 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000311 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000365 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001156 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001627 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001629 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001643 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002019 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002020 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0003468 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0006528 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0011471 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0011951 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0100874 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000047 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000076 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000407 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000410 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000486 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000494 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000508 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000518 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000520 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000545 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000574 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000646 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000771 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000821 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000824 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000956 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001231 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001357 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001601 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001607 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001635 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001655 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001800 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002092 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002099 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002212 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002616 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002645 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002714 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002779 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0003038 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0003074 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0003196 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0004602 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0006434 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0008388 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0009894 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0009937 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0010535 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0011221 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0025313 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0030043 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0200055 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0000069 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0000316 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0000368 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0000431 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0000494 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0001263 ORPHA:30 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0001385 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0001643 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0001744 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0001903 ORPHA:30 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0002205 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0003218 ORPHA:30 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0003355 ORPHA:30 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0003526 ORPHA:30 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0005435 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30 Hereditary orotic aciduria HP:0008388 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31 Oxoglutaric aciduria HP:0000238 ORPHA:31 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31 Oxoglutaric aciduria HP:0000816 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31 Oxoglutaric aciduria HP:0001251 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31 Oxoglutaric aciduria HP:0001263 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31 Oxoglutaric aciduria HP:0001276 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31 Oxoglutaric aciduria HP:0003202 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31 Oxoglutaric aciduria HP:0004322 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31 Oxoglutaric aciduria HP:0010286 ORPHA:31 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31 Oxoglutaric aciduria HP:0012401 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31 Oxoglutaric aciduria HP:0100022 ORPHA:31 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:32 Glutathione synthetase deficiency HP:0000707 ORPHA:32 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32 Glutathione synthetase deficiency HP:0001878 ORPHA:32 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32 Glutathione synthetase deficiency HP:0001996 ORPHA:32 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32 Glutathione synthetase deficiency HP:0003343 ORPHA:32 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32 Glutathione synthetase deficiency HP:0010978 ORPHA:32 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000252 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000675 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000679 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000689 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001263 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001321 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001999 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002213 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002650 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0008070 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0045075 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001256 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001508 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002079 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002119 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002280 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002465 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002750 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0006511 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0009085 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000023 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000028 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000074 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000126 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000343 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000347 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000369 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000431 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000463 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000470 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000486 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000518 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000954 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001182 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001601 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001629 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001634 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002365 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002418 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002509 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0003100 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0003510 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0004970 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0005135 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0006970 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0007068 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0007835 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0008366 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0010864 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0011406 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0011800 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444072 Cerebellar-facial-dental syndrome HP:0012110 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33 Isovaleric acidemia HP:0001250 ORPHA:33 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33 Isovaleric acidemia HP:0001263 ORPHA:33 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33 Isovaleric acidemia HP:0001942 ORPHA:33 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0000159 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0000969 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0000989 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0001025 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0001279 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0002018 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0002315 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0002321 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0030809 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0030828 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0100326 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0100539 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0100665 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0002094 ORPHA:97230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0011971 ORPHA:97230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97230 Solar urticaria HP:0100845 ORPHA:97230 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0001288 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002094 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002091 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002747 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002792 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003202 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003236 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003458 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003555 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003557 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003722 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003803 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003805 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0008800 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0008978 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0009027 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0012764 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0031237 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002460 ORPHA:178464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003701 ORPHA:178464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0008963 ORPHA:178464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0008981 ORPHA:178464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0100293 ORPHA:178464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002527 ORPHA:178464 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0000972 ORPHA:38 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0025092 ORPHA:38 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0025167 ORPHA:38 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0045059 ORPHA:38 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0002955 ORPHA:38 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0025114 ORPHA:38 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0025507 ORPHA:38 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0040162 ORPHA:38 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0006089 ORPHA:38 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0025509 ORPHA:38 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0200035 ORPHA:38 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:38 Acrokeratoelastoidosis of Costa HP:0002814 ORPHA:38 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0001250 ORPHA:101029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0002269 ORPHA:101029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0002538 ORPHA:101029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0032391 ORPHA:101029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0001257 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0001324 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0001328 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0001347 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0002126 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0002699 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0010843 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0011193 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0001274 ORPHA:101029 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0002079 ORPHA:101029 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101029 Sub-cortical nodular heterotopia HP:0002134 ORPHA:101029 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000750 ORPHA:171829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0001263 ORPHA:171829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0001513 ORPHA:171829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0001999 ORPHA:171829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000256 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000293 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000341 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000486 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000582 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0001319 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0001328 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0002033 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0002591 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0007874 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0025160 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000278 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000337 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000347 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000369 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000414 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000463 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000478 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000574 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000729 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0000765 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0001182 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0001833 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0002136 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0002370 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0005280 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0008551 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171829 6q16 microdeletion syndrome HP:0031703 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000819 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0003118 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0003154 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0003466 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0012030 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030200 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000141 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000708 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000712 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000739 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000822 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000939 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000953 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000963 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000978 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001007 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001050 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001058 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001061 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001065 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001324 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001626 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001888 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001956 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001974 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002721 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0004324 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0007126 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0008221 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0010284 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0012743 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0025017 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0025383 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0025406 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030348 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0031364 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0031845 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0031891 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0100785 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0500011 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000716 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000725 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000869 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000876 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000979 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001297 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001658 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001824 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002014 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002039 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002086 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002209 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002354 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002733 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002953 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0006749 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0011370 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0012398 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030405 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030446 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0031284 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0031589 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0040270 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0100521 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0100634 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0200042 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000709 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000726 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002666 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002865 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0006722 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0006725 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0006753 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0010741 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0011999 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0012125 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0025269 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030357 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030445 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0100757 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0500167 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002690 ORPHA:99889 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0008291 ORPHA:99889 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0001510 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0002119 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0007957 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0008053 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0011480 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0000609 ORPHA:137902 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0000538 ORPHA:137902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0007663 ORPHA:137902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0007766 ORPHA:137902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0030534 ORPHA:137902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0000567 ORPHA:137902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0002353 ORPHA:137902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0007710 ORPHA:137902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0000076 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0012547 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0012758 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0000964 ORPHA:330064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0000989 ORPHA:330064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0000992 ORPHA:330064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0025092 ORPHA:330064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0030350 ORPHA:330064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0001053 ORPHA:330064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0007505 ORPHA:330064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0007573 ORPHA:330064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0025127 ORPHA:330064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0100725 ORPHA:330064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0001019 ORPHA:330064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330064 Chronic actinic dermatitis HP:0003193 ORPHA:330064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0000857 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001508 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001824 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001944 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0003074 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0003076 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0006274 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0011106 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0000488 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001249 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001263 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001270 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001488 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001511 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001627 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002069 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002123 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002714 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002804 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002919 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0005487 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0005750 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0012594 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0012758 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0000124 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0000365 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001251 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001252 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001259 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002186 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002594 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0003477 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0010864 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0010935 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0030057 ORPHA:99885 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000135 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000496 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000505 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000508 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000543 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000551 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000718 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000738 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000771 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000822 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0000873 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001249 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001250 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001251 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001252 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001260 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001265 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001283 ORPHA:97229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001291 ORPHA:97229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001324 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001336 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001337 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0001730 ORPHA:97229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0002015 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0002093 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0002120 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0012332 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0003202 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0003690 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0004326 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0006824 ORPHA:97229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0007730 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0008002 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0010535 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97229 Riboflavin transporter deficiency HP:0010628 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0001511 ORPHA:99886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0001518 ORPHA:99886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0001944 ORPHA:99886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0003074 ORPHA:99886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0040216 ORPHA:99886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0000158 ORPHA:99886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0001537 ORPHA:99886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0004904 ORPHA:99886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0008255 ORPHA:99886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0000077 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0000079 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0000365 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0000707 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0000821 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0001250 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0001252 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0001508 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0001627 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0009800 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0012758 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0040064 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0001953 ORPHA:99886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99886 Transient neonatal diabetes mellitus HP:0030057 ORPHA:99886 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0008357 ORPHA:331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0011884 ORPHA:331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0030657 ORPHA:331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0000978 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0001342 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0001933 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0005261 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0007420 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0012233 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0030140 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0000132 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0000225 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0000421 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0001058 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0001934 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0004846 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0006298 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0011889 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0011891 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0030137 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0031364 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0040232 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0001399 ORPHA:331 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0002037 ORPHA:331 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331 Congenital factor XIII deficiency HP:0012324 ORPHA:331 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0005184 ORPHA:101016 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0001279 ORPHA:101016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0001688 ORPHA:101016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0005135 ORPHA:101016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0001250 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0001645 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0001664 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0004308 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0012332 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0500018 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0001197 ORPHA:101016 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0002900 ORPHA:101016 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101016 Romano-Ward syndrome HP:0000365 ORPHA:101016 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001249 ORPHA:370968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0003236 ORPHA:370968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0008947 ORPHA:370968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0030046 ORPHA:370968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0030099 ORPHA:370968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000252 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001263 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001270 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002120 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002828 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0003325 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0007015 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0008981 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0011968 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0030197 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000028 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000054 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000478 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000486 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000545 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000580 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000707 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001315 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001320 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001321 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002079 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002093 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002119 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002465 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002518 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002650 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002827 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002878 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0003327 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0003549 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0003712 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0004637 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002505 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0007361 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0008443 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0010628 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0010864 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0040173 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001369 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001371 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001386 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001609 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0007470 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0012379 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0000707 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0000708 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001249 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001263 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001508 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001615 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002086 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002829 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0003444 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0003640 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0008947 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0010729 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0011842 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0000502 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0000608 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0000766 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0000939 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001155 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001250 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001257 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001336 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001433 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001612 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001618 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001760 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001954 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002093 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002098 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002207 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002300 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002376 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002788 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002815 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0003019 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0003202 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0004322 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0005483 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0006511 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0007957 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0009811 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0011968 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0012444 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0025392 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0025405 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0025423 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0100750 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0000639 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001395 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001399 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001541 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001686 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001789 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001831 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001873 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001903 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0001999 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002028 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002385 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002716 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0002910 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0006575 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0007759 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0009381 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:333 Farber disease HP:0012469 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0002061 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0002064 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0002317 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0002395 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0003487 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0007020 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0008969 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0000570 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0001251 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0002936 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0003474 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0003693 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0007141 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0012407 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0100275 ORPHA:101010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001250 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001320 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001385 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001629 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001999 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002007 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002015 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002020 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002033 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002079 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002119 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002650 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0007018 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0007305 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0011229 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0012803 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0031910 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0100704 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0100716 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000478 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001249 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001252 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001263 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001511 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001627 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0008897 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0011968 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0410263 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000028 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000047 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000076 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000119 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000286 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000347 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000365 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000368 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000453 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000463 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000483 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000486 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000508 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000545 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000565 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000567 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000568 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000577 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000581 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000612 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000648 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000659 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000708 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000729 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001260 ORPHA:101011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001285 ORPHA:101011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002015 ORPHA:101011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002483 ORPHA:101011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001348 ORPHA:101011 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002064 ORPHA:101011 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0008994 ORPHA:101011 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001276 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001288 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001761 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002355 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002395 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002936 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0007350 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0008956 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0009046 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0010831 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0030237 ORPHA:101011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330 Congenital factor XII deficiency HP:0003645 ORPHA:330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330 Congenital factor XII deficiency HP:0004841 ORPHA:330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330 Congenital factor XII deficiency HP:0001907 ORPHA:330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330 Congenital factor XII deficiency HP:0001977 ORPHA:330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330 Congenital factor XII deficiency HP:0007985 ORPHA:330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330 Congenital factor XII deficiency HP:0012636 ORPHA:330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330 Congenital factor XII deficiency HP:0001026 ORPHA:330 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330 Congenital factor XII deficiency HP:0001892 ORPHA:330 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002897 ORPHA:99880 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0003072 ORPHA:99880 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0008200 ORPHA:99880 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002148 ORPHA:99880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002150 ORPHA:99880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0003165 ORPHA:99880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0011766 ORPHA:99880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000121 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000131 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000787 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000939 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0001959 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002015 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0003072 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0010614 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0012232 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0012378 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000083 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000107 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000934 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0001324 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0001733 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002017 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002019 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002315 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002574 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002653 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0004398 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0008696 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0200025 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002667 ORPHA:99880 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002890 ORPHA:99880 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0006725 ORPHA:99880 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0010788 ORPHA:99880 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0012032 ORPHA:99880 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000276 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000316 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001166 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001252 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001548 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0010864 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0011220 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0011229 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0045075 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000218 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000256 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000303 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000368 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000400 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000494 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000520 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000582 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001263 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001344 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001355 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001519 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001520 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001533 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001833 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001999 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002066 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002069 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002307 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002355 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002751 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000054 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000272 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000297 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000325 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000426 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000472 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000586 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000735 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001321 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001334 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001376 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001388 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001555 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001763 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001998 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002119 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002120 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002808 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002938 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0006863 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0007074 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0007204 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0011003 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0011330 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0000218 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0000252 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0000286 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0000347 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0000378 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0000463 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0000479 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0000778 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0001622 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0001662 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0001710 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0001999 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0005104 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0006695 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0008058 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0008364 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0008551 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0008619 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0009099 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0009117 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0012759 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0000384 ORPHA:40366 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0001709 ORPHA:40366 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0006493 ORPHA:40366 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0006496 ORPHA:40366 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40366 Acitretin/etretinate embryopathy HP:0009760 ORPHA:40366 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000252 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000407 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000505 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001263 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002353 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000729 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000817 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001250 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001257 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001344 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002069 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002121 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002123 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002342 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002540 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0006808 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0006863 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0008947 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0010864 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0011352 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0012443 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0100704 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000278 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000430 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001319 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001873 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002019 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002079 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002120 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002283 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002509 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002521 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002553 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002721 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0003189 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0005280 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0010838 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0011229 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0011290 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0011451 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0012444 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0012469 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000733 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001631 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002451 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002650 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0004532 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0011471 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0020049 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0100716 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329 Congenital factor XI deficiency HP:0001892 ORPHA:329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329 Congenital factor XI deficiency HP:0001929 ORPHA:329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329 Congenital factor XI deficiency HP:0003645 ORPHA:329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329 Congenital factor XI deficiency HP:0006298 ORPHA:329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329 Congenital factor XI deficiency HP:0010989 ORPHA:329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329 Congenital factor XI deficiency HP:0000132 ORPHA:329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329 Congenital factor XI deficiency HP:0000421 ORPHA:329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329 Congenital factor XI deficiency HP:0002239 ORPHA:329 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329 Congenital factor XI deficiency HP:0005261 ORPHA:329 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0010307 ORPHA:137935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0002098 ORPHA:137935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0011968 ORPHA:137935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0012735 ORPHA:137935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0030864 ORPHA:137935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0000329 ORPHA:137935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0000750 ORPHA:137935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0000961 ORPHA:137935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0001609 ORPHA:137935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0030828 ORPHA:137935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0002013 ORPHA:137935 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0002104 ORPHA:137935 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137935 Laryngotracheal angioma HP:0002360 ORPHA:137935 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000529 ORPHA:228346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000618 ORPHA:228346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001250 ORPHA:228346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001268 ORPHA:228346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0002505 ORPHA:228346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000550 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000646 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000648 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000709 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000716 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000718 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000726 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000739 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001007 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001061 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001251 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001260 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001662 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001712 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001922 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0002015 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0002067 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0002069 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0002354 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0002360 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0002362 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0002367 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0002839 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0007058 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0007076 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0007359 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0010872 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0011504 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0030348 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000501 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000518 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0000580 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001272 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0001583 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228346 CLN3 disease HP:0032794 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0000083 ORPHA:99879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0000121 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0000934 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0000938 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0002148 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0002150 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0002897 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0003072 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0003109 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0003165 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0008200 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0003072 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0011458 ORPHA:99879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99879 Familial isolated hyperparathyroidism HP:0040160 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001627 ORPHA:97214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0002092 ORPHA:97214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0003546 ORPHA:97214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001324 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001962 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0002875 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0004755 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0005110 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0005115 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0005317 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0012378 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0012418 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0030148 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0000961 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001217 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001254 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001392 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001541 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001609 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001629 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001631 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001643 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001681 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001694 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001708 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001891 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0002098 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0002105 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0002240 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0003270 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0004756 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0004840 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0005180 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0006695 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0010741 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0011227 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0011604 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0011712 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0012382 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0012398 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0030848 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0030849 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0031138 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0100749 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0000083 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001279 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001297 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001636 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0001892 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0002149 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0002321 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0004308 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0005518 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0006689 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0007430 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0030049 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0030828 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97214 Eisenmenger syndrome HP:0100724 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0008151 ORPHA:328 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0008321 ORPHA:328 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0004846 ORPHA:328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0006298 ORPHA:328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0000225 ORPHA:328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0000421 ORPHA:328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0000132 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0000790 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0000978 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0002239 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0005261 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0007420 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0011884 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0011891 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0012233 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0025328 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0030140 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0002138 ORPHA:328 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:328 Congenital factor X deficiency HP:0011854 ORPHA:328 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0006298 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0011884 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0011890 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0011891 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0012233 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0012541 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0030137 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0030138 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0030140 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0004420 ORPHA:325 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0004936 ORPHA:325 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0003645 ORPHA:325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0008151 ORPHA:325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0008151 ORPHA:325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0040250 ORPHA:325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0000421 ORPHA:325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0001892 ORPHA:325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0002170 ORPHA:325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0005261 ORPHA:325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0000132 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0001903 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325 Congenital factor II deficiency HP:0002907 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000083 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000091 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000093 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000100 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000112 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000179 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000280 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000365 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000407 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000518 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000524 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000648 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000708 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000716 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000739 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000790 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000822 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000823 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000873 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000962 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0000966 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001004 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001014 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001131 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001250 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001369 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001482 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001635 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001637 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001639 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001646 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001653 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001678 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001681 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001712 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001903 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0001945 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002017 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002024 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002027 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002039 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002093 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002094 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002097 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002321 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002326 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002376 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002571 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002823 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0002829 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0003077 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0003119 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0003326 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0004306 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0004322 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0004349 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0006510 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0007957 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0011675 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0011710 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0012378 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0100543 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0100579 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0100585 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324 Fabry disease HP:0100820 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000003 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000028 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000252 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000278 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000337 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000343 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000369 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000411 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000486 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000494 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000508 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0045075 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001166 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001252 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001263 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001511 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001601 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001770 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0002019 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0002514 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0004279 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0004389 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0006101 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0007678 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0010956 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0002170 ORPHA:327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0002239 ORPHA:327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0000132 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0000225 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0000421 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0000978 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0004846 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0005261 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0008151 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0000138 ORPHA:327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0010881 ORPHA:327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:327 Congenital factor VII deficiency HP:0011891 ORPHA:327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0000518 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0001305 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0001320 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0002280 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0002460 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0003444 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0008944 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0000421 ORPHA:326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0005261 ORPHA:326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0000132 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0000225 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0000790 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0000978 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0001934 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0002239 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0004846 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0006298 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0007420 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0011890 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0011891 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0030137 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0030140 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0002105 ORPHA:326 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0002170 ORPHA:326 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0002573 ORPHA:326 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:326 Congenital factor V deficiency HP:0100608 ORPHA:326 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0001003 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0001045 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0001258 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0001347 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002064 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002515 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002607 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002751 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0012701 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0000085 ORPHA:101003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0001250 ORPHA:101003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002218 ORPHA:101003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002827 ORPHA:101003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0004322 ORPHA:101003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0030431 ORPHA:321 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0001376 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002763 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002815 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002823 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0003330 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0003959 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0004302 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0004322 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0012531 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0040069 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0001369 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002673 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002857 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002991 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002992 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0003016 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0003026 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0003326 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0003474 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0003977 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0005922 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0006385 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0006487 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0008800 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0009821 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0009826 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0010049 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0010501 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0025232 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0030883 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0032510 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0040071 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0100555 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0100559 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0000016 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0000896 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0000918 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0001191 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0001850 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002015 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002107 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002144 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002176 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0002318 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0003396 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0003406 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0004684 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0005214 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0006765 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0008443 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0012151 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0020110 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0031625 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0040163 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:321 Multiple osteochondromas HP:0100749 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000023 ORPHA:3191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000286 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000347 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000368 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000463 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000470 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000568 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000639 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000691 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001061 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001080 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001249 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001513 ORPHA:3191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001608 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001682 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0002093 ORPHA:3191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0002650 ORPHA:3191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0002808 ORPHA:3191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0003119 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0004322 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0005048 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0005174 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0005978 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0007598 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0008777 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0011675 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001332 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001336 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001252 ORPHA:13 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002179 ORPHA:13 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000508 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000711 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000713 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000716 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000750 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000980 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001249 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001250 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001251 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001263 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001266 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001270 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001276 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001347 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002015 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002063 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002067 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002071 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002072 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002169 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002329 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002421 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002487 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002521 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002527 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0003781 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0010553 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0001257 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0001258 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0001347 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0002169 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0012407 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0030051 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0000407 ORPHA:101004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0000822 ORPHA:320 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0002900 ORPHA:320 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0003351 ORPHA:320 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0000121 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0001508 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0001959 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0001960 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0004319 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0004322 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0011731 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0012603 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0000083 ORPHA:320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0001095 ORPHA:320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0001297 ORPHA:320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0001511 ORPHA:320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0001712 ORPHA:320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320 Apparent mineralocorticoid excess HP:0012606 ORPHA:320 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000707 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001927 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002570 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002630 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0025201 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0100513 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000529 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000551 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000662 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001284 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001508 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001903 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001923 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002028 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002904 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0003073 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0003146 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0003233 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0003326 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0003563 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0004905 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0007703 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0012153 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0100512 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000510 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000575 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000938 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001251 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001260 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001310 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001397 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001761 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001762 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002013 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002066 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002136 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002240 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002403 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002493 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002495 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002751 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002910 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0003198 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0003376 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0003487 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0006858 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0007894 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0008151 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0009053 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0010831 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0025022 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000508 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000602 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000618 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0000821 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001097 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001394 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001395 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001635 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001640 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0001892 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0002878 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:14 Abetalipoproteinemia HP:0012804 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0002385 ORPHA:101005 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0008441 ORPHA:101005 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0000763 ORPHA:101005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0001258 ORPHA:101005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0012514 ORPHA:101005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0030833 ORPHA:101005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0000519 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0001087 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0003134 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0007141 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0008480 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0012513 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0100712 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3193 Supravalvular aortic stenosis HP:0004381 ORPHA:3193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3193 Supravalvular aortic stenosis HP:0011675 ORPHA:3193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001249 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001288 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001324 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001347 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0002061 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0002120 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0003202 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0003487 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0007141 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0030890 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0000079 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0000518 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001317 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001332 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001761 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0002650 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0006938 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0007024 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0100660 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001265 ORPHA:101006 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0008209 ORPHA:101006 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0040171 ORPHA:101006 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0045087 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0000309 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0000260 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0000956 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0001513 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0002091 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0003180 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0003375 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0005257 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0008905 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0011867 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0012418 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0000238 ORPHA:15 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0002808 ORPHA:15 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0002979 ORPHA:15 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0003498 ORPHA:15 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0005619 ORPHA:15 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0009826 ORPHA:15 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0000242 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0000256 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0000365 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0000463 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0001156 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0001377 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0002007 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0002870 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0002938 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0003026 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0003194 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0003416 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0004060 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0005280 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0005819 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0008445 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0008947 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0010241 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0010536 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0011452 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:15 Achondroplasia HP:0045086 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000039 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000076 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0002836 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0004298 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0010866 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0100645 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000020 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000023 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000048 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000075 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000077 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000083 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000085 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000089 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000136 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0001367 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0001539 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0004321 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0011024 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0011842 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0025489 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0030014 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0030261 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0040307 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0100599 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0100600 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000028 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000069 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000110 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000238 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000252 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000271 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000290 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0000315 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0001627 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0002023 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0002025 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0002414 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0010475 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:322 Exstrophy-epispadias complex HP:0012443 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000246 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0001945 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0012378 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0012531 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0012735 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0032162 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000572 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000622 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000629 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000819 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0001291 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0001622 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0001742 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0001875 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0001993 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002013 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002014 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002018 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002027 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002105 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002107 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002113 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002202 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002248 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002315 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002383 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002583 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0004377 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0004387 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0005263 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0008066 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0011949 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0031417 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0032166 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0032172 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0032177 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0032564 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0032674 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0045026 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0100537 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0100539 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0100658 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0100721 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0100749 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0100750 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0200035 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0200039 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000083 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000123 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000265 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000421 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000508 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000520 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000541 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000544 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0000651 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0001701 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0001733 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002239 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002249 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002573 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002586 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0002797 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0004418 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0004420 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0004944 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0007185 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0012115 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0012375 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0012819 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0020101 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0025059 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0025326 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0030049 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0031369 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73263 Zygomycosis HP:0100584 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0000613 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0000670 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0000682 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0000982 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0001072 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0001131 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0001156 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0001817 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0003510 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0004279 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0000230 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0001155 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0005916 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0001167 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0001231 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0001622 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0010783 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0000365 ORPHA:3194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0000662 ORPHA:3194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3194 Corneodermatoosseous syndrome HP:0012047 ORPHA:3194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000316 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000750 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000924 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001155 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001257 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001260 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001263 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001270 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001290 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001317 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001328 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001347 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001350 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001382 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001510 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001760 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002015 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002019 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002313 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002464 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002495 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0003202 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0003484 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0003487 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0004322 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0005922 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0011094 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0012443 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0100518 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0100543 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000252 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000286 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000369 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000448 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000494 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000709 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000712 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000738 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000739 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001172 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001609 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001761 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002064 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002360 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002857 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0003693 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0005288 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0011098 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0011448 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0025269 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0030084 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000126 ORPHA:101000 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000023 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000027 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000028 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000098 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000175 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000179 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000276 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000286 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000316 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000324 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000389 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000486 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000581 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000582 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000639 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000670 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000679 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000682 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000684 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000709 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000716 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000717 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000733 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000739 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000771 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000789 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0000815 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001249 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001250 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001251 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001252 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001260 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001263 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001337 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001385 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001513 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001763 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0001883 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0002019 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0002020 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0002099 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0002104 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0002119 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0002167 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0002205 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0030680 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0002650 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0002665 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0002974 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0003042 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0003043 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0004209 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0005469 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0005692 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0005978 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0007018 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0008734 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0008736 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0008872 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0010807 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:10 48,XXYY syndrome HP:0012802 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome HP:0000682 ORPHA:3196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome HP:0001399 ORPHA:3196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome HP:0006297 ORPHA:3196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome HP:0011069 ORPHA:3196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0000726 ORPHA:101001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002355 ORPHA:101001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0007256 ORPHA:101001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001257 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001263 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001268 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001288 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001347 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002015 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002079 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002186 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002476 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0003134 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0006892 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0007340 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0010526 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0012075 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001317 ORPHA:101001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002071 ORPHA:101001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0000252 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0000316 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0000368 ORPHA:11 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0000431 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0000486 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0000582 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0000823 ORPHA:11 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0001249 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0001252 ORPHA:11 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0001263 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0001357 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0001385 ORPHA:11 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0001643 ORPHA:11 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0001671 ORPHA:11 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0001773 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0002974 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0004209 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0010978 ORPHA:11 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0100490 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0200055 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0000347 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:11 Pentasomy X HP:0004322 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0000490 ORPHA:444051 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0001263 ORPHA:444051 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0000348 ORPHA:444051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0001511 ORPHA:444051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0000316 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0000322 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0000365 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0000478 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0000598 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0000708 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0001252 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0001884 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0002007 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0002508 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0011800 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0012385 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0040019 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0001156 ORPHA:444051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444051 20q11.2 microdeletion syndrome HP:0001181 ORPHA:444051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001251 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001257 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001276 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001336 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001347 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001387 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0002020 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0002036 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0002063 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0002380 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0003552 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0100022 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0100633 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001288 ORPHA:3197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001537 ORPHA:3197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0002360 ORPHA:3197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0100790 ORPHA:3197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001249 ORPHA:3197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001250 ORPHA:3197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0001373 ORPHA:3197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3197 Hereditary hyperekplexia HP:0002827 ORPHA:3197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:16 Blue cone monochromatism HP:0000505 ORPHA:16 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:16 Blue cone monochromatism HP:0000512 ORPHA:16 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:16 Blue cone monochromatism HP:0000613 ORPHA:16 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:16 Blue cone monochromatism HP:0001131 ORPHA:16 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:16 Blue cone monochromatism HP:0007703 ORPHA:16 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:16 Blue cone monochromatism HP:0007939 ORPHA:16 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0001258 ORPHA:101007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0002395 ORPHA:101007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0003487 ORPHA:101007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0005340 ORPHA:101007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0006938 ORPHA:101007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0001260 ORPHA:101007 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0002075 ORPHA:101007 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0007377 ORPHA:101007 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0000407 ORPHA:101007 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0001347 ORPHA:101008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0003487 ORPHA:101008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0001761 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002061 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002063 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002064 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002172 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002317 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002650 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0006944 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0007021 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0007340 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0010830 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0000399 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0000408 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0000750 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0001963 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0008596 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0011476 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0000405 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0005101 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0007670 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0011474 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0012713 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0012714 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87884 Non-syndromic genetic deafness HP:0008573 ORPHA:87884 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002912 ORPHA:17 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0012120 ORPHA:17 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001263 ORPHA:17 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003535 ORPHA:17 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0008947 ORPHA:17 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0012379 ORPHA:17 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0012751 ORPHA:17 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001249 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001298 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001397 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001508 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001510 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002059 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002151 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002240 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002490 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002910 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003128 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003202 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0008347 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0011923 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0011924 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0011968 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000252 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000407 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000486 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000508 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000718 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000736 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000975 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001250 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001266 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001276 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001332 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001336 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001371 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001639 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001943 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002013 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002020 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002045 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002098 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002104 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002205 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002317 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002352 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002360 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002487 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003200 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003201 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003557 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0012087 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0012240 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000047 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000202 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001643 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001655 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001680 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003097 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003219 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0004742 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0005792 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0010442 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0011611 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002395 ORPHA:101009 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0003487 ORPHA:101009 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0000365 ORPHA:101009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0001761 ORPHA:101009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002036 ORPHA:101009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002904 ORPHA:101009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0100790 ORPHA:101009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002169 ORPHA:101009 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002495 ORPHA:101009 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0007350 ORPHA:101009 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0010936 ORPHA:101009 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0001250 ORPHA:101009 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002034 ORPHA:101009 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0010831 ORPHA:101009 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0000121 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0001996 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0002900 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0004349 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0004918 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0012405 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0032066 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0000128 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0000787 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0001324 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0001508 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0001510 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0002150 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0003109 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0004322 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0012608 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0000107 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0000114 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0000407 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0001944 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0001959 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0002013 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0002014 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0002019 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0002653 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0002659 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0002747 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0002748 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0002749 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0003126 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0003355 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0004396 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0011387 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0011964 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0012213 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0001878 ORPHA:18 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:18 Distal renal tubular acidosis HP:0003470 ORPHA:18 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000160 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000189 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000426 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000490 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000494 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000670 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000750 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001249 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001324 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001328 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001763 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001845 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0002352 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0002553 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0002750 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0003458 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0004322 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0010761 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000179 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000331 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000508 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000592 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000602 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001337 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0000739 ORPHA:3198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0000975 ORPHA:3198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0002527 ORPHA:3198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0003457 ORPHA:3198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0011964 ORPHA:3198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0000712 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0000756 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0002063 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0002267 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0002355 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0012894 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0030057 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0000819 ORPHA:3198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0000821 ORPHA:3198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0002938 ORPHA:3198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3198 Stiff person spectrum disorder HP:0000707 ORPHA:3198 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003741 ORPHA:370980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001270 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001272 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001290 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001319 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001349 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001771 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002355 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002359 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002500 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003324 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003326 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003394 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003458 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003797 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0007126 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0008180 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0012548 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0030099 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0030051 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0000252 ORPHA:370980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002350 ORPHA:370980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002751 ORPHA:370980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001302 ORPHA:370980 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002119 ORPHA:370980 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002282 ORPHA:370980 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001249 ORPHA:370980 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:318 Acute erythroid leukemia HP:0001876 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:318 Acute erythroid leukemia HP:0001882 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:318 Acute erythroid leukemia HP:0001903 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:318 Acute erythroid leukemia HP:0004828 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:318 Acute erythroid leukemia HP:0012133 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:318 Acute erythroid leukemia HP:0025035 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:318 Acute erythroid leukemia HP:0031020 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:318 Acute erythroid leukemia HP:0005528 ORPHA:318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0001824 ORPHA:99867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0031378 ORPHA:99867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0031409 ORPHA:99867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0100749 ORPHA:99867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0001324 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0001609 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0001945 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0002094 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0002664 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0002721 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0002960 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0004313 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0012735 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0030166 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0030208 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0045026 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0000099 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0000707 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0001370 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0001909 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0001915 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0002725 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0003326 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0005560 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0007108 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0007378 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0012288 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0012410 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0012539 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0031041 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0100031 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0100279 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0100324 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0100526 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0100527 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0100614 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99867 Thymoma HP:0100787 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000252 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000365 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000411 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000501 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000518 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000958 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000988 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000992 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0001034 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0001156 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0001182 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0001595 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0001597 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0001824 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0002230 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0030680 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0004322 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0008066 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0008069 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0010783 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0012733 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000035 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000819 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0000962 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0001249 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0001596 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0005588 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0007400 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:317 Erythrokeratodermia variabilis HP:0007957 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0000969 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0000975 ORPHA:99868 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0001824 ORPHA:99868 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0002094 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0003473 ORPHA:99868 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0005345 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0006597 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0012378 ORPHA:99868 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0012735 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0100521 ORPHA:99868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0100540 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0100721 ORPHA:99868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99868 Thymic carcinoma HP:0100749 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3199 Stimmler syndrome HP:0000252 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3199 Stimmler syndrome HP:0000682 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3199 Stimmler syndrome HP:0000691 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3199 Stimmler syndrome HP:0001251 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3199 Stimmler syndrome HP:0001511 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3199 Stimmler syndrome HP:0003355 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3199 Stimmler syndrome HP:0004322 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3199 Stimmler syndrome HP:0005978 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3199 Stimmler syndrome HP:0010864 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314 Erythroderma desquamativum HP:0001051 ORPHA:314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314 Erythroderma desquamativum HP:0001508 ORPHA:314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314 Erythroderma desquamativum HP:0002014 ORPHA:314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314 Erythroderma desquamativum HP:0010978 ORPHA:314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0000083 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0000164 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0000232 ORPHA:313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0000389 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0000656 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0000958 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0000962 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0000989 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0008070 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0001019 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0001597 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0001944 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0002205 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0004322 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0008064 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0008070 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0011039 ORPHA:313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0100543 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0100679 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0100758 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0100806 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313 Lamellar ichthyosis HP:0100840 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:316 Progressive symmetric erythrokeratodermia HP:0000982 ORPHA:316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:316 Progressive symmetric erythrokeratodermia HP:0010783 ORPHA:316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:316 Progressive symmetric erythrokeratodermia HP:0200035 ORPHA:316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0001028 ORPHA:141184 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0007466 ORPHA:141184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0007618 ORPHA:141184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0031449 ORPHA:141184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0100585 ORPHA:141184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0001015 ORPHA:141184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0001635 ORPHA:141184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0001873 ORPHA:141184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0100784 ORPHA:141184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0410266 ORPHA:141184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0010885 ORPHA:141184 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0031207 ORPHA:141184 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0100578 ORPHA:141184 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141184 Rapidly involuting congenital hemangioma HP:0012329 ORPHA:141184 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000233 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000272 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000286 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000343 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000369 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000414 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001182 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001508 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001627 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0002194 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0002705 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0007687 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0009748 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0010862 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0012745 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000154 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000278 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000280 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000293 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000486 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000540 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000545 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000574 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000739 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000752 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000824 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001156 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001212 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001511 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001631 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001649 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001702 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001822 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0003196 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0004691 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0007018 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0008689 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0008947 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0009237 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0011040 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0012166 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0012170 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0012450 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0040025 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0000238 ORPHA:73256 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0010576 ORPHA:73256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0025354 ORPHA:73256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0030047 ORPHA:73256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0000504 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0000716 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0001251 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0002017 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0002315 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0002514 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0002516 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0008000 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0000360 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0001254 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0001259 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0002172 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0003401 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0003487 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73256 Central neurocytoma HP:0007021 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:315 Erythrokeratoderma ''en cocardes'' HP:0000962 ORPHA:315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:315 Erythrokeratoderma ''en cocardes'' HP:0001000 ORPHA:315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:315 Erythrokeratoderma ''en cocardes'' HP:0008069 ORPHA:315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:315 Erythrokeratoderma ''en cocardes'' HP:0200034 ORPHA:315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:315 Erythrokeratoderma ''en cocardes'' HP:0002664 ORPHA:315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3180 Spondylocamptodactyly syndrome HP:0000926 ORPHA:3180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3180 Spondylocamptodactyly syndrome HP:0002650 ORPHA:3180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3180 Spondylocamptodactyly syndrome HP:0100490 ORPHA:3180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0000819 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0001824 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002014 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002017 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002019 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002039 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002240 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002570 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002574 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002894 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0004396 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0004840 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0005609 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0012432 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0100833 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0001046 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0001406 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0001438 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0001541 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002239 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0005214 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0012334 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0030145 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0000820 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0000837 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0000845 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0000870 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0001031 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0003118 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002865 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002893 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0002897 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0003072 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0008200 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97283 Somatostatinoma HP:0008256 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3181 Sprengel deformity HP:0000175 ORPHA:3181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3181 Sprengel deformity HP:0000470 ORPHA:3181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3181 Sprengel deformity HP:0000473 ORPHA:3181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3181 Sprengel deformity HP:0001435 ORPHA:3181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3181 Sprengel deformity HP:0003043 ORPHA:3181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3181 Sprengel deformity HP:0008952 ORPHA:3181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002894 ORPHA:97282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002900 ORPHA:97282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0005208 ORPHA:97282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0000819 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0001824 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0001895 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0001944 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002017 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002024 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002039 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002240 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002574 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0003072 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0003324 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0003394 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0004396 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0010783 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0012432 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0001046 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0001406 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0001438 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0001541 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0012334 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0030895 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0000820 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0000837 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0000845 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0000870 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0001031 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0003118 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002747 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002893 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002896 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002897 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0003005 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0003528 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0006719 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0006731 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0008200 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0008256 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97282 VIPoma HP:0002573 ORPHA:97282 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0030445 ORPHA:97287 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0001824 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0002039 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0002090 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0002094 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0002099 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0002105 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0002730 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0004396 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0006530 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0030828 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0031246 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0100749 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0000845 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0001005 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0001399 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0001708 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0001962 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0002240 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0002615 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0003118 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0003144 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0003154 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0004385 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0005180 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0007380 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0012701 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0025428 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0030149 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0030166 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97287 Bronchial neuroendocrine tumor HP:0031566 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97286 Carney-Stratakis syndrome HP:0000360 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97286 Carney-Stratakis syndrome HP:0000365 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97286 Carney-Stratakis syndrome HP:0001824 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97286 Carney-Stratakis syndrome HP:0002015 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97286 Carney-Stratakis syndrome HP:0002027 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97286 Carney-Stratakis syndrome HP:0002239 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97286 Carney-Stratakis syndrome HP:0002668 ORPHA:97286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97286 Carney-Stratakis syndrome HP:0005214 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97286 Carney-Stratakis syndrome HP:0006824 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97286 Carney-Stratakis syndrome HP:0100723 ORPHA:97286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000161 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000202 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000252 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000356 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000365 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000413 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000568 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000601 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000612 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000921 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0001360 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0001539 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0001636 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0001829 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0002269 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0002623 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0002984 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0003022 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0003063 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0003422 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000612 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0008678 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0009601 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0009829 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0009914 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0009927 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0011467 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0100542 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0000853 ORPHA:97285 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0002665 ORPHA:97285 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0000475 ORPHA:97285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0000821 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0000872 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0001609 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0002015 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0002094 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0002716 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0002781 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0010307 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0000836 ORPHA:97285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0012531 ORPHA:97285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97285 Thyroid lymphoma HP:0002098 ORPHA:97285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000158 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000160 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000179 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000256 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000280 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000286 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000311 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000316 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000347 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000358 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000365 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000444 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000483 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000486 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000494 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000508 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000574 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000577 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000629 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000646 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000684 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000718 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000722 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000750 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001263 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000805 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000964 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001051 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001249 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001250 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001269 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001290 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001508 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001513 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001634 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001716 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001760 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001763 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002003 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002019 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002046 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002079 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002136 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002705 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0003186 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0004209 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0006482 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0011246 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0012680 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0100703 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0001347 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002061 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002064 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002314 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0003487 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0006895 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0007020 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002166 ORPHA:171863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002169 ORPHA:171863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0007210 ORPHA:171863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0007340 ORPHA:171863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0100561 ORPHA:171863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0001761 ORPHA:171863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0001250 ORPHA:171863 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002921 ORPHA:171863 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0003457 ORPHA:171863 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0012898 ORPHA:171863 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002894 ORPHA:97280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0000206 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0000819 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0000988 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0000989 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0001824 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0001895 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0001927 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002014 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002017 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002019 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002039 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002240 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002574 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0004396 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0008066 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0010280 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0012432 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0031181 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0000716 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0001046 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0001406 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0001438 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0001541 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0001907 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002239 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002570 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0005214 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0012334 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0030145 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0030895 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0000820 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0000837 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0000845 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0000870 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0001031 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0003118 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002893 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0002897 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0003072 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0008200 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97280 Glucagonoma HP:0008256 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0000286 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0000316 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0000381 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0000405 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0000408 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0000708 ORPHA:90646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0000815 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0000823 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0002750 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0001100 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0004452 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0100503 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0100543 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0007642 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0008669 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0011384 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0011388 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90646 Deafness-hypogonadism syndrome HP:0012717 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0005184 ORPHA:90647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0008619 ORPHA:90647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0011476 ORPHA:90647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0001279 ORPHA:90647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0001664 ORPHA:90647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0007185 ORPHA:90647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0011675 ORPHA:90647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0030973 ORPHA:90647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0001250 ORPHA:90647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0001663 ORPHA:90647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0001891 ORPHA:90647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3188 Congenital pulmonary veins atresia or stenosis HP:0000822 ORPHA:3188 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3188 Congenital pulmonary veins atresia or stenosis HP:0001671 ORPHA:3188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3188 Congenital pulmonary veins atresia or stenosis HP:0002093 ORPHA:3188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3188 Congenital pulmonary veins atresia or stenosis HP:0030680 ORPHA:3188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3189 Congenital pulmonary valvar stenosis HP:0001602 ORPHA:3189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3189 Congenital pulmonary valvar stenosis HP:0001631 ORPHA:3189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3189 Congenital pulmonary valvar stenosis HP:0030680 ORPHA:3189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0000364 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0000504 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0000708 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0000739 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0000825 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0000842 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0000975 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0001250 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0001254 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0001259 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0001337 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0001958 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0001962 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0001988 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0002044 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0002494 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0002591 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0003324 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0003401 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0004324 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0004372 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0006476 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0006767 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0007159 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0008200 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0008283 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0010534 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0010832 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0011446 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0012051 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0012378 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0100631 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0100634 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97279 Insulinoma HP:0100785 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0002894 ORPHA:97278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0100833 ORPHA:97278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0001438 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0001824 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0002014 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0002017 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0002019 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0002039 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0002240 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0002574 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0004396 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0030144 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0001046 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0001081 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0001406 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0001541 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0002239 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0005214 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0006723 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0012334 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0030145 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0000820 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0000837 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0000845 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0000870 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0001031 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0003118 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0002893 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0002897 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0003072 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0008200 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97278 PPoma HP:0008256 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000822 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002013 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002018 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002019 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002027 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002039 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0003270 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0012378 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000124 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000684 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000708 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000716 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000988 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0001328 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0001518 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0001622 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0001903 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002315 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002354 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002460 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002715 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0005268 ORPHA:330015 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0005560 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002795 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0007010 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0007015 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0007018 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0031058 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0032155 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0100511 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0100512 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0100543 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0100785 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000140 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000735 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000789 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000798 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0000823 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0001249 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0001250 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0001259 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0001298 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0001970 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002099 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002270 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002750 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0002843 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0003141 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0003212 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0003233 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0003474 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0004437 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0005368 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0007178 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0009830 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0012207 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0012622 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0012864 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0030018 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0031429 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:330015 Lead poisoning HP:0040306 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0003712 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0007204 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0007256 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0007260 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002282 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0012443 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000485 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000486 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000518 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000525 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000545 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000589 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000609 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000648 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001250 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001256 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001274 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001347 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002085 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002119 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002126 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002169 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002350 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0006899 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0006955 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0012110 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0012695 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000541 ORPHA:370959 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000568 ORPHA:370959 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000618 ORPHA:370959 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001638 ORPHA:370959 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0003236 ORPHA:370959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0003741 ORPHA:370959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0030046 ORPHA:370959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0030099 ORPHA:370959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000158 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000238 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000252 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001263 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001317 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001321 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002198 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002363 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002365 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002938 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0003701 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0003707 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000235 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000316 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000347 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000444 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000543 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0001250 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0002120 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0007370 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0100672 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000252 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000494 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000518 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0001639 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0002353 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0011304 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0001249 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0001257 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0001276 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0002063 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0002133 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0002301 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0003552 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0000848 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001942 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0002153 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0002902 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0011740 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0040085 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001531 ORPHA:171876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001944 ORPHA:171876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0002013 ORPHA:171876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0031274 ORPHA:171876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0200117 ORPHA:171876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001047 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001081 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001824 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0002754 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0003508 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0008872 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0011110 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0011675 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0012735 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0030828 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0200039 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0001007 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0001250 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0001518 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0001762 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0002205 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0002808 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0004322 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0005280 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0008780 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0010864 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0000518 ORPHA:85288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0001344 ORPHA:85288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0003144 ORPHA:85288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0000286 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0000486 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0000750 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0000752 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0000736 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0000772 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0000826 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0000830 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0000863 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0001249 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0001273 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0001290 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0001328 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0002418 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0002474 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0003468 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0100710 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0000252 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0001355 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0001545 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0001680 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0002015 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0004478 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0007375 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0011471 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0012110 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0012650 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280195 Septopreoptic holoprosencephaly HP:0031913 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85295 HSD10 disease, atypical type HP:0000708 ORPHA:85295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85295 HSD10 disease, atypical type HP:0001249 ORPHA:85295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85295 HSD10 disease, atypical type HP:0100022 ORPHA:85295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0000407 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0000565 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0000648 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0001251 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0001252 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0001263 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0002073 ORPHA:85292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0000726 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0001270 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0002174 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0002354 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0002355 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0007256 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000023 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000154 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000322 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000363 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000448 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000470 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000494 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000664 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000752 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001344 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002167 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002342 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0004209 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0004279 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0008736 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0010720 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0010807 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0010864 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0200021 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0200055 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000179 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000218 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000256 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000581 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000718 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001337 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001513 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001761 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001773 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001852 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002136 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002650 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0004322 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0004326 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0008734 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000135 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000252 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000286 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000956 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000975 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001250 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001770 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002353 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002721 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002808 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002967 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0004422 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0005692 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0100490 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome HP:0000256 ORPHA:85294 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome HP:0000718 ORPHA:85294 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome HP:0001250 ORPHA:85294 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome HP:0001328 ORPHA:85294 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0005285 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0008905 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0011304 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0000303 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0000358 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0000368 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0000470 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0001156 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0001388 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0001552 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0001597 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0002938 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0003027 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0004482 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0011800 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0001609 ORPHA:171866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0002795 ORPHA:171866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3176 Spina bifida-hypospadias syndrome HP:0000047 ORPHA:3176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3176 Spina bifida-hypospadias syndrome HP:0002414 ORPHA:3176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3176 Spina bifida-hypospadias syndrome HP:0010301 ORPHA:3176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0000505 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0001131 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0001251 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0002073 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0002342 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0002493 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0002503 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0007006 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0007957 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0000822 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0001250 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0001289 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0001332 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0001337 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0001649 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0001919 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0002018 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0002039 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0002094 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0002098 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0002500 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0002572 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0002574 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0002615 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0002878 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0002900 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0003324 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0006515 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0007185 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330021 Mercury poisoning HP:0100785 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000154 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000248 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000303 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000321 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0001250 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0001510 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0002300 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0002719 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0010814 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0010864 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0012471 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000023 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000034 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000252 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0006956 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85290 X-linked intellectual disability, Wilson type HP:0012448 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0000845 ORPHA:97261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0000280 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0001438 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0003118 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0001824 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002014 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002017 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002019 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002039 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002044 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002240 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002574 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002894 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0004396 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0007410 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0030144 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0100526 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0000820 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0000837 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0000870 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0001031 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0001046 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0001081 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0001406 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0001541 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002239 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002893 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002897 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0003072 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0005214 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0006723 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0008200 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0008256 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0012334 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0030145 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0100833 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0002666 ORPHA:97261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97261 GRFoma HP:0100521 ORPHA:97261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0000252 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0001249 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0001250 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0001263 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0001272 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0001290 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0001508 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0011968 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0012345 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0000028 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0000046 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0000054 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0000078 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0000648 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0001511 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0001873 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370924 STT3B-CDG HP:0002098 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0000271 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0000656 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0000958 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0000969 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0000982 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0000989 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0001019 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0001337 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0001596 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0001744 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0001999 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0002103 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0002240 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0002665 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0002716 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0002721 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0003202 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0004332 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0007400 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0008069 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0008404 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0009830 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0010701 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0012192 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0100725 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3162 Sézary syndrome HP:0100758 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0003256 ORPHA:370927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0000252 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001249 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001263 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001290 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001999 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0000154 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0000400 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0000486 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0000490 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0000687 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001508 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0002013 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0002020 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0011024 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0011339 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0011968 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001250 ORPHA:370927 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0000085 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0000924 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001331 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001373 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001626 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001928 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0002079 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0002518 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0002650 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370927 SSR4-CDG HP:0001643 ORPHA:370927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000023 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000407 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000490 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0003510 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0005692 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0007676 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000164 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000271 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000485 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000501 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000615 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000682 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000691 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000819 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000855 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0008070 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0001596 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0001824 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0002167 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0004396 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0007392 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0009125 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0011800 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000272 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000277 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000316 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000325 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000336 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000431 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000506 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000593 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0000627 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0001156 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0004279 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0007957 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0010668 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3163 SHORT syndrome HP:0011220 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0000219 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0000465 ORPHA:3164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0000494 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0000499 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0000506 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0001252 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0001263 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0001539 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0001620 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002000 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002020 ORPHA:3164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002023 ORPHA:3164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002028 ORPHA:3164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002643 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002650 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002714 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0005338 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0005956 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0008749 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0008872 ORPHA:3164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0009555 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0000016 ORPHA:178475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0000508 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0000651 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0001260 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0001324 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0001695 ORPHA:178475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0001945 ORPHA:178475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0002015 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0002019 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0002094 ORPHA:178475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0002747 ORPHA:178475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0006597 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0006824 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0011499 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178475 Wound botulism HP:0100021 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0000049 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0000322 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0000565 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0000729 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0000733 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0001249 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0001250 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0001319 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0001344 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0002020 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0002079 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0002119 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0002120 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0002273 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0003011 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0003196 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0010804 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0011344 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0000217 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0000298 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0000389 ORPHA:178478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0000508 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0000600 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0000651 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0000822 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0001097 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0001252 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0001260 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0001284 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0001620 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0001695 ORPHA:178478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002015 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002019 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002027 ORPHA:178478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002039 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002094 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002307 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002360 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002607 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002615 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002747 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0002902 ORPHA:178478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0006824 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0011499 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0100021 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178478 Infant botulism HP:0100022 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000252 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000275 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000276 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000303 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000366 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000400 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000486 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000490 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000574 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000602 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000639 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000717 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000733 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000748 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000765 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0000767 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0001181 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0001272 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0001332 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0001344 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002015 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002020 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002066 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002078 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002119 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002120 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002187 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002197 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002300 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002376 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002529 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0002804 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0003199 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0004326 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0005692 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0007360 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0007370 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0008872 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0011344 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0100024 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85278 Christianson syndrome HP:0100613 ORPHA:85278 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000028 ORPHA:85279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000218 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000252 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000256 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000327 ORPHA:85279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000411 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000426 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000486 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000490 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000717 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000718 ORPHA:85279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000750 ORPHA:85279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0001182 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0001250 ORPHA:85279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0001257 ORPHA:85279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0001347 ORPHA:85279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0001762 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0002232 ORPHA:85279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0004279 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0004322 ORPHA:85279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0007565 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0008734 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0010864 ORPHA:85279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0030084 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0100490 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000028 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000076 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000089 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000110 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000175 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000238 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000252 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000365 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000369 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000411 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000444 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000568 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000609 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0000612 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0001162 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0001263 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0001357 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0001510 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0001511 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0001596 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0002251 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0002650 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0002937 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0003811 ORPHA:85284 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0005343 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0008064 ORPHA:85284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0008734 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0010864 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85284 BRESEK syndrome HP:0012443 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000272 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000286 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000316 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000470 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000520 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000598 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000729 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000926 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000938 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001156 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001249 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001270 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001363 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001498 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001845 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002007 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002355 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002651 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002750 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002751 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002815 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003196 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003272 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004322 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004689 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0005280 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0010579 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0010804 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0012471 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0100864 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000164 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000252 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000369 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000766 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001256 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001290 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001763 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001838 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002812 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002857 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002944 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002967 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003026 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003100 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003275 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003307 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003521 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004209 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004279 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004568 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0005096 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0005639 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0006461 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0006863 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0010049 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0010585 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0012428 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0030292 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0030293 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0040261 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000486 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001377 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001643 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001653 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001655 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001761 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001863 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002079 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002342 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002677 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004592 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0008812 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0030427 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000028 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000047 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000054 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000089 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000104 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000233 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000238 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000239 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000248 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000262 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000272 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000316 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000337 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000343 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000347 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000348 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000369 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000463 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000581 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000768 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001250 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001276 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001285 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001363 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001513 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001537 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001601 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001643 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001770 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0002000 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0002059 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0002308 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0002342 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0002974 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0003196 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0004279 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0005280 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0006487 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0006610 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0007375 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0008551 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000365 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000544 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001249 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001257 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001263 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001266 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001344 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001531 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0002033 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0002421 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0004322 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0005484 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0008947 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0100660 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000076 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000126 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000218 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000446 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000490 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001347 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0002120 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0002987 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0003273 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0006380 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0006466 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85285 X-linked intellectual disability, Schimke type HP:0011471 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000053 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000232 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000280 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000336 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000400 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000414 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000581 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000750 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0001250 ORPHA:85286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0001513 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0002342 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85286 X-linked intellectual disability, Shashi type HP:0100540 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000028 ORPHA:85287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000202 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000204 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000276 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000455 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000664 ORPHA:85287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0001176 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0001177 ORPHA:85287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0001256 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0002162 ORPHA:85287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0002650 ORPHA:85287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85287 X-linked intellectual disability, Siderius type HP:0008734 ORPHA:85287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000218 ORPHA:85280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000252 ORPHA:85280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000272 ORPHA:85280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000322 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000490 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000494 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000767 ORPHA:85280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000995 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0001182 ORPHA:85280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0001250 ORPHA:85280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0001956 ORPHA:85280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0001999 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0002342 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0002714 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0002967 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0004322 ORPHA:85280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0007598 ORPHA:85280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0000028 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0000054 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0000252 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0000293 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0000311 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0000340 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0000639 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0000713 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0000819 ORPHA:85282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0001182 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0001250 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0001252 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0001276 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0001347 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0001510 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0001513 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0001762 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0002353 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0002714 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0003241 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0008736 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0009748 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0010864 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0011344 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85282 MEHMO syndrome HP:0012471 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0000135 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0000324 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0000482 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0000577 ORPHA:85283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0001838 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0003202 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0005692 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0007477 ORPHA:85283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0010864 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0000969 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0001063 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0001369 ORPHA:3165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0001482 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0001824 ORPHA:3165 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0001879 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0001880 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0002829 ORPHA:3165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0003326 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0003401 ORPHA:3165 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0012378 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0012733 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0100537 ORPHA:3165 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0100614 ORPHA:3165 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0100658 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3165 Eosinophilic fasciitis HP:0100748 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0040320 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0001324 ORPHA:228302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003455 ORPHA:228302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0045045 ORPHA:228302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0100295 ORPHA:228302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0000083 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0001970 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003201 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003236 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003394 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003449 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003710 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003774 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0008682 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0009058 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0011964 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0002913 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003326 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003546 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003738 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0012380 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0000219 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0000280 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0000286 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0000316 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0000319 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0000369 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0000431 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0000629 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0000943 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001081 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001250 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001256 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001290 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001382 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001433 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001609 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001847 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001939 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001999 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0002240 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0002354 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0002474 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0002487 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0002574 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0002705 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0002781 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0002910 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0003645 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0004691 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0007018 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0008151 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0008443 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0010535 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0011220 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0012103 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3166 Sialuria HP:0001263 ORPHA:3166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0008419 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0008818 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0009381 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0009832 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0009834 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0010052 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0011304 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0001156 ORPHA:3168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0001761 ORPHA:3168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0001840 ORPHA:3168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0002650 ORPHA:3168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0003180 ORPHA:3168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0005819 ORPHA:3168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0010239 ORPHA:3168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0012385 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0000286 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0000300 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0000926 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0001533 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0001597 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0001782 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0001783 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0003418 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0003468 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0004679 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3168 Sillence syndrome HP:0006170 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002910 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003201 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0006929 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0011675 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0012380 ORPHA:228305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001324 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002315 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002574 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002913 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003198 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003236 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003326 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003449 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003546 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003710 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003738 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0008315 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0011936 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0011964 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0040320 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0045045 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001250 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001305 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001397 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001399 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001638 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001714 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001985 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002240 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3169 Sirenomelia HP:0000062 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3169 Sirenomelia HP:0000079 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3169 Sirenomelia HP:0002023 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3169 Sirenomelia HP:0008678 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3169 Sirenomelia HP:0010305 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3169 Sirenomelia HP:0010497 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3169 Sirenomelia HP:0001626 ORPHA:3169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3169 Sirenomelia HP:0002414 ORPHA:3169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3169 Sirenomelia HP:0002575 ORPHA:3169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3169 Sirenomelia HP:0006501 ORPHA:3169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0000365 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0001394 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0001396 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0001397 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0001511 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0001994 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0003128 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0003281 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0012464 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0012465 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53693 GRACILE syndrome HP:0100613 ORPHA:53693 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0000252 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0000343 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0000664 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0000885 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0000894 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0001027 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0001061 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0001373 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0001388 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0001510 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0001763 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0002240 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0002342 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0002673 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0003015 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0003026 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0004322 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0005616 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0011304 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0012471 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0030084 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0100864 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0500011 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0000175 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0000520 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0000545 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0001007 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0001956 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370930 XYLT1-CDG HP:0004482 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002913 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0008315 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0011936 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0012380 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0040320 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0045045 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0000083 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0000113 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0000800 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001250 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001274 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001399 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001638 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001985 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002240 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002269 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002514 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002643 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0003077 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0003215 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0003236 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0011675 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0011968 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0012443 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0000238 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001259 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001290 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001302 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001320 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001397 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001637 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001640 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001942 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001970 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001987 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002119 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002126 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002134 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002705 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0006559 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0007229 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0008682 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0012722 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53697 Gnathodiaphyseal dysplasia HP:0000935 ORPHA:53697 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53697 Gnathodiaphyseal dysplasia HP:0000938 ORPHA:53697 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53697 Gnathodiaphyseal dysplasia HP:0002650 ORPHA:53697 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53697 Gnathodiaphyseal dysplasia HP:0002757 ORPHA:53697 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53697 Gnathodiaphyseal dysplasia HP:0006487 ORPHA:53697 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53697 Gnathodiaphyseal dysplasia HP:0007626 ORPHA:53697 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53697 Gnathodiaphyseal dysplasia HP:0012802 ORPHA:53697 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000375 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000399 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000407 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000505 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000648 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000649 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000708 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0001268 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0001332 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0001751 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002283 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0003487 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0004463 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0006801 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0007256 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0007325 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0007377 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0008596 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0011448 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0012048 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000551 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000572 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000603 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000613 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000726 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000751 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000763 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0001337 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002015 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002172 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002186 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002340 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002362 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002540 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0004373 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0004432 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0009830 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0011951 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0011999 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0100704 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0007018 ORPHA:52368 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0001347 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002061 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002064 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002314 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0003487 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0007020 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0000012 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0000020 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002166 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002355 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0003457 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0007199 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0008944 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0009053 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0012898 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0001761 ORPHA:444099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0000726 ORPHA:444099 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0001250 ORPHA:444099 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002921 ORPHA:444099 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0000961 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001511 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001518 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001622 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001640 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001667 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0002240 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0002789 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0002878 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0004887 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0005180 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0010772 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0012418 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0031441 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0031443 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0031664 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001655 ORPHA:555874 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001698 ORPHA:555874 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001704 ORPHA:555874 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555874 Congenital tricuspid valve dysplasia HP:0030718 ORPHA:555874 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0000964 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0008064 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0008066 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0008499 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0010783 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0012393 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0040189 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0000953 ORPHA:263534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0007605 ORPHA:263534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0012733 ORPHA:263534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0200034 ORPHA:263534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263534 Acral peeling skin syndrome HP:0200041 ORPHA:263534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0000648 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0000651 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0000763 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0001251 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0001288 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0001881 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0001928 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0002321 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0004374 ORPHA:3151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0007256 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0008064 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0100654 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0000098 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0000366 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0000407 ORPHA:3152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0000508 ORPHA:3152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0000648 ORPHA:3152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0001233 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0003103 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0004493 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0005019 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0006101 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0009838 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0010628 ORPHA:3152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0011001 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3152 Sclerosteosis HP:0100798 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001653 ORPHA:555877 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0005180 ORPHA:555877 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0010444 ORPHA:555877 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001634 ORPHA:555877 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001659 ORPHA:555877 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000189 ORPHA:555877 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001382 ORPHA:555877 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001647 ORPHA:555877 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001763 ORPHA:555877 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0031624 ORPHA:555877 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000179 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000316 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000343 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000347 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000767 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000974 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001290 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001488 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001643 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0002079 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0002094 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0002650 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0030718 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0032388 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0000980 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0001324 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0001744 ORPHA:228312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0001878 ORPHA:228312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0001881 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0002094 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0002960 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0012378 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171851 MEDNIK syndrome HP:0000962 ORPHA:171851 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171851 MEDNIK syndrome HP:0001249 ORPHA:171851 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171851 MEDNIK syndrome HP:0002242 ORPHA:171851 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171851 MEDNIK syndrome HP:0008064 ORPHA:171851 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171851 MEDNIK syndrome HP:0009830 ORPHA:171851 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171851 MEDNIK syndrome HP:0001406 ORPHA:171851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171851 MEDNIK syndrome HP:0010837 ORPHA:171851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171851 MEDNIK syndrome HP:0011967 ORPHA:171851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0000148 ORPHA:65681 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0000130 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0000786 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0002027 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0030011 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0031500 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0031501 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0003762 ORPHA:65681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0030160 ORPHA:65681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0100674 ORPHA:65681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0000145 ORPHA:65681 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65681 Vaginal atresia HP:0000813 ORPHA:65681 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0000365 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0000952 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0000989 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0001081 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0001394 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0001402 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0001733 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0001824 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002017 ORPHA:65682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002027 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002028 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002039 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002611 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002910 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0011985 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0012378 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0000707 ORPHA:65683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0001250 ORPHA:65683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0002361 ORPHA:65683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0012757 ORPHA:65683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0410263 ORPHA:65683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0000708 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0001256 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0001269 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0002384 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0002536 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0006891 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0007359 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0030890 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0031951 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0100543 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0002197 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0007334 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0010864 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0011097 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0012469 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65683 Isolated focal cortical dysplasia HP:0025170 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65684 Monomelic amyotrophy HP:0001324 ORPHA:65684 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65684 Monomelic amyotrophy HP:0001337 ORPHA:65684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65684 Monomelic amyotrophy HP:0002380 ORPHA:65684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65684 Monomelic amyotrophy HP:0002398 ORPHA:65684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65684 Monomelic amyotrophy HP:0002715 ORPHA:65684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65684 Monomelic amyotrophy HP:0002817 ORPHA:65684 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65684 Monomelic amyotrophy HP:0003134 ORPHA:65684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65684 Monomelic amyotrophy HP:0003457 ORPHA:65684 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65684 Monomelic amyotrophy HP:0007149 ORPHA:65684 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65684 Monomelic amyotrophy HP:0100022 ORPHA:65684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178487 Adult intestinal botulism HP:0000508 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178487 Adult intestinal botulism HP:0000651 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178487 Adult intestinal botulism HP:0001324 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178487 Adult intestinal botulism HP:0002014 ORPHA:178487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178487 Adult intestinal botulism HP:0002094 ORPHA:178487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178487 Adult intestinal botulism HP:0002747 ORPHA:178487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178487 Adult intestinal botulism HP:0006597 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178487 Adult intestinal botulism HP:0006824 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178487 Adult intestinal botulism HP:0100021 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000175 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000252 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000340 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000365 ORPHA:85273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000411 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000426 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000767 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0001249 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0002650 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0004322 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0008734 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85273 X-linked intellectual disability, Abidi type HP:0100335 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0000028 ORPHA:85274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0000054 ORPHA:85274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0000135 ORPHA:85274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0000572 ORPHA:85274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0000692 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0001182 ORPHA:85274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0001249 ORPHA:85274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0001324 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0001513 ORPHA:85274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0002231 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0002342 ORPHA:85274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0002546 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0004322 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0006482 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0008736 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome HP:0000528 ORPHA:85275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome HP:0000568 ORPHA:85275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome HP:0001256 ORPHA:85275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome HP:0009755 ORPHA:85275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000023 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000028 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000154 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000175 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000248 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000256 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000286 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000303 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000322 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000337 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000347 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000400 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000486 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000494 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000501 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000518 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000996 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001250 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001263 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001377 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001643 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001671 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001773 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001992 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0002120 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0002342 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0002714 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0003355 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0004322 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0005280 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0005306 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0007413 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0009811 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0010864 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0011800 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0012023 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0200055 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85276 X-linked intellectual disability, Armfield type HP:0400004 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0000217 ORPHA:178481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0000508 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0000651 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0001252 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0001260 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0001522 ORPHA:178481 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0002014 ORPHA:178481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0002015 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0002017 ORPHA:178481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0002094 ORPHA:178481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0002747 ORPHA:178481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0006824 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178481 Intestinal botulism HP:0011499 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000572 ORPHA:171844 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000618 ORPHA:171844 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0001166 ORPHA:171844 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0002650 ORPHA:171844 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000486 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000518 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000541 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000565 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0001132 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0007703 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0012376 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0000823 ORPHA:314811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0002750 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0001510 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0004322 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0001943 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0001946 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0002013 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0002027 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0004323 ORPHA:314811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0004325 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314811 Short stature due to GHSR deficiency HP:0030353 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0000090 ORPHA:3156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0000505 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0000518 ORPHA:3156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0000529 ORPHA:3156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0000556 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0000822 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0001251 ORPHA:3156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0001263 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0002612 ORPHA:3156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0003774 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0004322 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0004348 ORPHA:3156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0007703 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0008209 ORPHA:3156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0010579 ORPHA:3156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3156 Senior-Loken syndrome HP:0012622 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000028 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000175 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000407 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000458 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000486 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000505 ORPHA:3157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000609 ORPHA:3157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000639 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000717 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000864 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000873 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000958 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0000966 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0001249 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0001250 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0001263 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0001274 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0001331 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0001513 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0001959 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0002019 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0002032 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0002360 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0030680 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0002575 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0004322 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0004374 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0007360 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0008736 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0009800 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0010627 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0012378 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3157 Septo-optic dysplasia spectrum HP:0100842 ORPHA:3157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0000729 ORPHA:370943 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0001256 ORPHA:370943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0004976 ORPHA:370943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0001385 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0001765 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0002121 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0002342 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0002650 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0002827 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0010864 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0000975 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0000989 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0001123 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0001250 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0001260 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0001279 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0001744 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0001824 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0001892 ORPHA:71493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0001894 ORPHA:71493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0002092 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0002315 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0002321 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0002326 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0002637 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0002863 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0003401 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0004420 ORPHA:71493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0004808 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0004936 ORPHA:71493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0005268 ORPHA:71493 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0004950 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0005506 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71493 Familial thrombocytosis HP:0100749 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001880 ORPHA:3260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000980 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001903 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001945 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001974 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002098 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002863 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0003270 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0031323 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0100724 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000622 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000708 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000726 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000964 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000965 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000989 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001019 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001025 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001217 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001250 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001289 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001298 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001324 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001347 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001369 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001386 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001433 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001508 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001635 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001644 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001727 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001733 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001744 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001785 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001873 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001894 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002013 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002015 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002024 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002027 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002028 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002094 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002099 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002113 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002170 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002202 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002204 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002206 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002326 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002354 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002583 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002829 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002910 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0003202 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0003326 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0003401 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0003474 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0004302 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0005115 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0005547 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0006253 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0006580 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0008872 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0008940 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0009830 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0011123 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0011897 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0011974 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0012735 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0025289 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0030151 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0030880 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0100665 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0100749 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0200029 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0200034 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0200036 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0200123 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001744 ORPHA:3261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002716 ORPHA:3261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002730 ORPHA:3261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002960 ORPHA:3261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0000978 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001890 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001892 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001904 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001971 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001973 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002240 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002851 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003237 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0005404 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0010702 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0030782 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0000099 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001025 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001880 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001888 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001923 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002633 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002848 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002850 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002923 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003212 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003261 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003453 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003493 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003613 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0004315 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0004844 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0005407 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012115 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012189 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012190 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012191 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012539 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0030080 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0031392 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0031393 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0040126 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0100646 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0100827 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0000083 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0000554 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0000854 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001250 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001369 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001402 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001789 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002113 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002206 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002315 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002583 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002671 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002725 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002890 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0005263 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0005528 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0008069 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0008209 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0010619 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0011107 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012490 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0031020 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0100648 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000160 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000238 ORPHA:83473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000256 ORPHA:83473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000316 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000348 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000506 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001162 ORPHA:83473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001250 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001355 ORPHA:83473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001629 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001653 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001671 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0002126 ORPHA:83473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0005105 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0005280 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0100542 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy HP:0000365 ORPHA:217622 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy HP:0001635 ORPHA:217622 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy HP:0001644 ORPHA:217622 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy HP:0030872 ORPHA:217622 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy HP:0040268 ORPHA:217622 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0000104 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0000175 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0000252 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0000776 ORPHA:63862 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0001518 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0001539 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0001622 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0002023 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0002084 ORPHA:63862 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0002323 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0002414 ORPHA:63862 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0030680 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0002575 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0002983 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63862 Schisis association HP:0100333 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0000988 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0001063 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0001873 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0001977 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0002958 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0003645 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0004855 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0005521 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0005543 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0008066 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0008151 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0011227 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0011900 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0012733 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0025022 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0025475 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0031273 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0031365 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0100758 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0001399 ORPHA:49566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0002170 ORPHA:49566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0002664 ORPHA:49566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0011029 ORPHA:49566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0100806 ORPHA:49566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49566 Acquired purpura fulminans HP:0025452 ORPHA:49566 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:57196 Medial condensing osteitis of the clavicle HP:0000889 ORPHA:57196 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57196 Medial condensing osteitis of the clavicle HP:0010657 ORPHA:57196 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57196 Medial condensing osteitis of the clavicle HP:0030834 ORPHA:57196 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57196 Medial condensing osteitis of the clavicle HP:0006467 ORPHA:57196 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57196 Medial condensing osteitis of the clavicle HP:0011227 ORPHA:57196 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0003003 ORPHA:99818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0030692 ORPHA:99818 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0005227 ORPHA:99818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002014 ORPHA:99818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002019 ORPHA:99818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0000505 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0000365 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002176 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0000957 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0012174 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0200040 ORPHA:99818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002885 ORPHA:99818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002893 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002888 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0009592 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0009733 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0007129 ORPHA:99818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002315 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002013 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002516 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002890 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0031459 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002027 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002573 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002249 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0011512 ORPHA:99818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002884 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0100245 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0200008 ORPHA:99818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0001137 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0001251 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002018 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0030553 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0001085 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0100006 ORPHA:99818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002895 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002671 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0030434 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0001909 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0002665 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0001103 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99818 Turcot syndrome with polyposis HP:0100014 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0000836 ORPHA:99819 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0011790 ORPHA:99819 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0000853 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0001824 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0002014 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0002378 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0008249 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0011784 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0000713 ORPHA:99819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0000752 ORPHA:99819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0001270 ORPHA:99819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0002360 ORPHA:99819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0000520 ORPHA:99819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99819 Familial gestational hyperthyroidism HP:0030057 ORPHA:99819 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000028 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000233 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000248 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000252 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000286 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000294 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000320 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000347 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000431 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000506 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000582 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000821 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000924 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000992 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0001249 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0001263 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0001510 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0001876 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0001974 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0002024 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0002240 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0002488 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0002665 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0002716 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0002721 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0003220 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0000444 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0004209 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0004422 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0004430 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0005561 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0005978 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0008736 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0010783 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99812 LIG4 syndrome HP:0100585 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0000252 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0000567 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0000612 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0001376 ORPHA:3265 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0002435 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0003019 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0003042 ORPHA:3265 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0003070 ORPHA:3265 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0008056 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0008368 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3265 Humero-radial synostosis HP:0009601 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0000640 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0001251 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0001284 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0001761 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0002166 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0002283 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0002464 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0002503 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0003073 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0003124 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0003376 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0003693 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0006855 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0006858 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0007021 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0007141 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0009053 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0009830 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0001250 ORPHA:94124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0001249 ORPHA:94124 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001945 ORPHA:95455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0008066 ORPHA:95455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0011123 ORPHA:95455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012378 ORPHA:95455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0030953 ORPHA:95455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000509 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000600 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000739 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000953 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000987 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000988 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001097 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001903 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002039 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002098 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002315 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002910 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0003326 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012384 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012735 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0025426 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0025439 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0031464 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0100792 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0200042 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0200097 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0200136 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000036 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000217 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000491 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000572 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000613 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000716 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000790 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001010 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001128 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001600 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001875 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001919 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002014 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002090 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0003270 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0004378 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0004386 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0004887 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0008404 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0008682 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0010285 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0011354 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012122 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012375 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012594 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0025416 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0030943 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0031088 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0031731 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0100518 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0200020 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0430007 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000618 ORPHA:95455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001798 ORPHA:95455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0006528 ORPHA:95455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0031368 ORPHA:95455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0100806 ORPHA:95455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3266 Humero-radio-ulnar synostosis HP:0000069 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3266 Humero-radio-ulnar synostosis HP:0001048 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3266 Humero-radio-ulnar synostosis HP:0005916 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3266 Humero-radio-ulnar synostosis HP:0001172 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3266 Humero-radio-ulnar synostosis HP:0002974 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3266 Humero-radio-ulnar synostosis HP:0003070 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3266 Humero-radio-ulnar synostosis HP:0009601 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3266 Humero-radio-ulnar synostosis HP:0010935 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3266 Humero-radio-ulnar synostosis HP:0100560 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36258 Buerger disease HP:0000763 ORPHA:36258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36258 Buerger disease HP:0000975 ORPHA:36258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36258 Buerger disease HP:0001063 ORPHA:36258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36258 Buerger disease HP:0002633 ORPHA:36258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36258 Buerger disease HP:0002829 ORPHA:36258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36258 Buerger disease HP:0003401 ORPHA:36258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36258 Buerger disease HP:0004420 ORPHA:36258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36258 Buerger disease HP:0100758 ORPHA:36258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36258 Buerger disease HP:0100785 ORPHA:36258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36258 Buerger disease HP:0200042 ORPHA:36258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0002470 ORPHA:94122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0000639 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0001260 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0001263 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0001290 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0001321 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0002066 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0002078 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0002080 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0002136 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94122 Cerebellar ataxia, Cayman type HP:0000479 ORPHA:94122 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000164 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000252 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000286 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000288 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000574 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000664 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000768 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000772 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0001249 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0001263 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0001622 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0002650 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0002750 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0002974 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0004209 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0004322 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0006101 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0007477 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0009811 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95459 Congenital tricuspid stenosis HP:0010446 ORPHA:95459 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:95459 Congenital tricuspid stenosis HP:0030148 ORPHA:95459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95459 Congenital tricuspid stenosis HP:0005180 ORPHA:95459 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95459 Congenital tricuspid stenosis HP:0001635 ORPHA:95459 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95459 Congenital tricuspid stenosis HP:0002092 ORPHA:95459 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95459 Congenital tricuspid stenosis HP:0002615 ORPHA:95459 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95459 Congenital tricuspid stenosis HP:0001370 ORPHA:95459 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:95459 Congenital tricuspid stenosis HP:0006689 ORPHA:95459 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:95459 Congenital tricuspid stenosis HP:0100570 ORPHA:95459 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0002974 ORPHA:3269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0002996 ORPHA:3269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0006394 ORPHA:3269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0040071 ORPHA:3269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0002818 ORPHA:3269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0001457 ORPHA:3269 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0003083 ORPHA:3269 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0030834 ORPHA:3269 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0030836 ORPHA:3269 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0001159 ORPHA:3269 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0001374 ORPHA:3269 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0001762 ORPHA:3269 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3269 Congenital radioulnar synostosis HP:0010442 ORPHA:3269 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0000602 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0000708 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0000872 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001250 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001251 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001284 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001288 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001290 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001310 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0002015 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0002315 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0002403 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0002406 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0002495 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0003390 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0003542 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0009830 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0012079 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0012251 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0100022 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0100543 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001260 ORPHA:94125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0002027 ORPHA:51890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0003474 ORPHA:51890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0010830 ORPHA:51890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0000975 ORPHA:51890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0002321 ORPHA:51890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0001974 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0002018 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0002039 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0003270 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0003418 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0003565 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0012533 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0100963 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0000010 ORPHA:51890 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0000023 ORPHA:51890 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0004325 ORPHA:51890 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0004798 ORPHA:51890 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0000174 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001290 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001371 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002808 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003236 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003306 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003324 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003458 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003557 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0004303 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0005072 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0006149 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0100297 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0000347 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0000470 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0000473 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0000565 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001181 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001238 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001324 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001558 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002359 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002650 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002827 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002878 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002987 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003700 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0006380 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0008081 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0009113 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0010511 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0000695 ORPHA:99811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0001643 ORPHA:99811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0002024 ORPHA:99811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0002719 ORPHA:99811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0004313 ORPHA:99811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0000776 ORPHA:99811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0001671 ORPHA:99811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0001249 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0001260 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0001336 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0002376 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0007221 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0007272 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0011166 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0011188 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0000252 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0000504 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0000648 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0000726 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0001272 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0001327 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0002059 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0002069 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0002073 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0002373 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0007370 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0011185 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0012462 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0045084 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000252 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000750 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0001263 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0001511 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0001999 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000160 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000276 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000286 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000322 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000347 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000369 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000448 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000506 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000545 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0001270 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0001344 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0001510 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0002342 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0012471 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0100807 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000175 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000340 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000358 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000430 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000494 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000540 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000582 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000646 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000666 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000737 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000752 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000826 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0000939 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0001385 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0001629 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0001761 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0002019 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0002020 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0002059 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0002092 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0002373 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0002572 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0002751 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0002827 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0003186 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0008551 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0010864 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0012741 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0030043 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0030084 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447980 19p13.3 microduplication syndrome HP:0100716 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238578 Familial clubfoot due to 17q23.1q23.2 microduplication HP:0001385 ORPHA:238578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238578 Familial clubfoot due to 17q23.1q23.2 microduplication HP:0001762 ORPHA:238578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238578 Familial clubfoot due to 17q23.1q23.2 microduplication HP:0001800 ORPHA:238578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238578 Familial clubfoot due to 17q23.1q23.2 microduplication HP:0004322 ORPHA:238578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0000407 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0000486 ORPHA:3250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0001156 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0005916 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0003019 ORPHA:3250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0003042 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0003070 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0004209 ORPHA:3250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0005048 ORPHA:3250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0005880 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0006101 ORPHA:3250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0008368 ORPHA:3250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0040019 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0100264 ORPHA:3250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3250 Proximal symphalangism HP:0100490 ORPHA:3250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83465 Narcolepsy type 2 HP:0000708 ORPHA:83465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83465 Narcolepsy type 2 HP:0000738 ORPHA:83465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83465 Narcolepsy type 2 HP:0001262 ORPHA:83465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83465 Narcolepsy type 2 HP:0002360 ORPHA:83465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83465 Narcolepsy type 2 HP:0100785 ORPHA:83465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83463 Microtia HP:0008551 ORPHA:83463 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:83463 Microtia HP:0000377 ORPHA:83463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83463 Microtia HP:0000413 ORPHA:83463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83463 Microtia HP:0000750 ORPHA:83463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83463 Microtia HP:0008589 ORPHA:83463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83463 Microtia HP:0009892 ORPHA:83463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83463 Microtia HP:0001360 ORPHA:83463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83463 Microtia HP:0007018 ORPHA:83463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0001541 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0001824 ORPHA:83469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0001903 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0002017 ORPHA:83469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0002027 ORPHA:83469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0002240 ORPHA:83469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0002585 ORPHA:83469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0002595 ORPHA:83469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0002716 ORPHA:83469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0002894 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0003270 ORPHA:83469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0004326 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0010788 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0100006 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0100242 ORPHA:83469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0100526 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0100615 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83469 Desmoplastic small round cell tumor HP:0100721 ORPHA:83469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0012064 ORPHA:83468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0002653 ORPHA:83468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0002756 ORPHA:83468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0003926 ORPHA:83468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0006431 ORPHA:83468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0100253 ORPHA:83468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0002992 ORPHA:83468 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0012428 ORPHA:83468 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0000707 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0002143 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0002696 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0002867 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0003172 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0003312 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0003418 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0003979 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83468 Solitary bone cyst HP:0100748 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0000083 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0000100 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0001250 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0001257 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0001260 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0012444 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0000252 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0000648 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0000951 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0001249 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0001251 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0001252 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0001270 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0007153 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83472 CAMOS syndrome HP:0007360 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0005359 ORPHA:83471 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0002719 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0005352 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0005374 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0005403 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0031381 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0031397 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0001508 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0002090 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0002718 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0002960 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0004798 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0031690 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0031691 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0032169 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0000010 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0000246 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0000389 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0000821 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0000976 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0001287 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0002014 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0002024 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0002716 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0002726 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0003472 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0004844 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0005366 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0005387 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0005401 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0009098 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0020101 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0031430 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0100646 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0100806 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83471 Thymic aplasia HP:0200122 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0000407 ORPHA:137867 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0001283 ORPHA:137867 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0001621 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0002460 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0003487 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0003693 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0006801 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0007289 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0000360 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0000505 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0000648 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0001315 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0001317 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0002015 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0100753 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0007663 ORPHA:137867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137867 Madras motor neuron disease HP:0010628 ORPHA:137867 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0000054 ORPHA:75858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0000505 ORPHA:75858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0000750 ORPHA:75858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0001956 ORPHA:75858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0000518 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0000556 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0000718 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0000752 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0001105 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0001256 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0002342 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0002465 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0007675 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0010864 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0000077 ORPHA:75858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0000613 ORPHA:75858 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0000639 ORPHA:75858 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:75858 MORM syndrome HP:0001252 ORPHA:75858 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000046 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000069 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000135 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000164 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000204 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000347 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000400 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000411 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000431 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000494 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000664 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000668 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000670 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000674 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000682 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000966 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000968 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000972 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0001249 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0001250 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0001596 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0001770 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0001810 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0002167 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0002205 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0002353 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0002553 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0002744 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0003307 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0003777 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0005338 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0006101 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0006482 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0006610 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0007477 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0007598 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0008070 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0008391 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0008404 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0010669 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0011800 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0100840 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000047 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000256 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000268 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000289 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000294 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000316 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000347 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000368 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000470 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000486 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000540 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000639 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000750 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001263 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000771 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0000962 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001357 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001250 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001256 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001310 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001321 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001388 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001508 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001513 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001741 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001822 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001884 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0001999 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002066 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002079 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002126 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002269 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002282 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002500 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002521 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002538 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002553 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002650 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0002705 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0005487 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0006610 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0006712 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0007165 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0008947 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0011220 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0012471 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0030084 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0012745 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75857 6q terminal deletion syndrome HP:0030048 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0001250 ORPHA:99802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0025373 ORPHA:99802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0030890 ORPHA:99802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0000267 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0000929 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0002119 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0002126 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0002392 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0007206 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0010851 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0011153 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0011193 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0011195 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0011215 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0001263 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0032046 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0000256 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0000648 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0001269 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0001302 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0001336 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0002133 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0002171 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0002282 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0004302 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0006824 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0010819 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0010864 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0011097 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0011167 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0012246 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0012377 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99802 Hemimegalencephaly HP:0012757 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0000407 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0000486 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0001249 ORPHA:99803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0001250 ORPHA:99803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0001252 ORPHA:99803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0001508 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0001518 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0001522 ORPHA:99803 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0001558 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0001561 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0001562 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0002020 ORPHA:99803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0002251 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0012332 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0012332 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0003005 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0003006 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0005957 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0007110 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99803 Haddad syndrome HP:0010536 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000028 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000252 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000426 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000430 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000431 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000445 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001249 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001263 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001328 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0002300 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0002381 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0002381 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0003510 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0004209 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0010529 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000322 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000337 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000494 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000648 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001252 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001257 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001376 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001510 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001511 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001792 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001864 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0002007 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0002451 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0002750 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0004322 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0007598 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0010550 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0010580 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0010624 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0010761 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0011220 ORPHA:3255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0000233 ORPHA:3255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001250 ORPHA:3255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0001629 ORPHA:3255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0002558 ORPHA:3255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3255 Filippi syndrome HP:0006101 ORPHA:3255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0002007 ORPHA:3258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0005048 ORPHA:3258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0006101 ORPHA:3258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0012165 ORPHA:3258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0100240 ORPHA:3258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000316 ORPHA:3258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000494 ORPHA:3258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0001770 ORPHA:3258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0001802 ORPHA:3258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0002974 ORPHA:3258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0005916 ORPHA:3258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0001817 ORPHA:3258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0002984 ORPHA:3258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0003022 ORPHA:3258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0009778 ORPHA:3258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000272 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000322 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000365 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000411 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000444 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000508 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000518 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000520 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000639 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000656 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000668 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000682 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000772 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0000821 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0001601 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0001849 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0002650 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0002705 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0002827 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0002983 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0003042 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0003196 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0003312 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0004736 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0007477 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3258 Cenani-Lenz syndrome HP:0008678 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000201 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000219 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000319 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000368 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000470 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000902 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000938 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0001103 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0001256 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0001320 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0001508 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0001762 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0001999 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0002092 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0002280 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0003026 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0003316 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0004582 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0008897 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0008905 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0011995 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0012301 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0030282 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000160 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000218 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000253 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000316 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000343 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000347 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000431 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000475 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0000494 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0001290 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0001433 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0002342 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0002673 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0002751 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0003180 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0003422 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0007033 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0007112 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0008551 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263508 COG1-CDG HP:0011342 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0012347 ORPHA:263501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0012358 ORPHA:263501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0000252 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0000340 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0000639 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0000737 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0001251 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0001263 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0001344 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0001347 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0001394 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0001433 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0001510 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0001531 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0001873 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0002254 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0002509 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0002788 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0002910 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0003124 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0003155 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0003256 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0006892 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0008935 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0008936 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0011172 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0011968 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0012301 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0100874 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0002079 ORPHA:263501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0004798 ORPHA:263501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0006583 ORPHA:263501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263501 COG4-CDG HP:0040187 ORPHA:263501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000175 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000189 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000193 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000238 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000239 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000244 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000303 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000316 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000324 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000327 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000337 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000405 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000407 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000444 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000453 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000486 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000494 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000505 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000520 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000648 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000684 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0000822 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0001249 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0001274 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0001331 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0001770 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0002007 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0002032 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0002093 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0002119 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0002308 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0030680 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0002676 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0002983 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0003422 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0004397 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0004487 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0004635 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0005280 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0006101 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0008872 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0009601 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0011304 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0011380 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0011800 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0012368 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0100615 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87 Apert syndrome HP:0200020 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001047 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001250 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001321 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001344 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001347 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001510 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002171 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002376 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002506 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002510 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002599 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0003281 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0004463 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0004840 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0007346 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0008568 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0008936 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001873 ORPHA:3240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002013 ORPHA:3240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002014 ORPHA:3240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002878 ORPHA:3240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001332 ORPHA:3240 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0011002 ORPHA:3240 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0000164 ORPHA:3241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0000174 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0000200 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0000322 ORPHA:3241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0000324 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0000407 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0000430 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0000431 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0000490 ORPHA:3241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0000582 ORPHA:3241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0001643 ORPHA:3241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0002007 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0004524 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3241 Deafness-craniofacial syndrome HP:0010297 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0001903 ORPHA:88 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0005528 ORPHA:88 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0001876 ORPHA:88 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0001896 ORPHA:88 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0000225 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0000421 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0000573 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0001873 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0001875 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0002719 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0031364 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88 Idiopathic aplastic anemia HP:0030057 ORPHA:88 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0012721 ORPHA:83454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0100026 ORPHA:83454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0011297 ORPHA:83454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0200036 ORPHA:83454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0002814 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0002817 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0011354 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0011355 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0200034 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0200035 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0002629 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0002778 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0010640 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0012210 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0031445 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83454 Glomuvenous malformation HP:0045026 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0000230 ORPHA:83453 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0000055 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0000155 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0000989 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0001036 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0010783 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0011118 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0012531 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0012537 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0025092 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0100725 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0200041 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83453 Vulvovaginal gingival syndrome HP:0001807 ORPHA:83453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0009763 ORPHA:83452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0000958 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0003474 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0004305 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0008383 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0010741 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0010742 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0010783 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0010834 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0012533 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0012534 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83452 Complex regional pain syndrome HP:0040170 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0000277 ORPHA:83451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0000326 ORPHA:83451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0003330 ORPHA:83451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0100671 ORPHA:83451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0100717 ORPHA:83451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0000700 ORPHA:83451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0001571 ORPHA:83451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0000309 ORPHA:83451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0430028 ORPHA:83451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0000155 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0000689 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0006308 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0006481 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0006483 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0007626 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0009088 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0010885 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0011069 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0011968 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0012065 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0012531 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0030793 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83451 Florid cemento-osseous dysplasia HP:0031035 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83461 Congenital primary aphakia HP:0000504 ORPHA:83461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83461 Congenital primary aphakia HP:0000568 ORPHA:83461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83461 Congenital primary aphakia HP:0000647 ORPHA:83461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83461 Congenital primary aphakia HP:0007707 ORPHA:83461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83461 Congenital primary aphakia HP:0007973 ORPHA:83461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83461 Congenital primary aphakia HP:0008062 ORPHA:83461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0011397 ORPHA:137898 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001260 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001317 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001337 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002073 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002167 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002191 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002312 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002317 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002355 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002460 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002493 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002497 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002505 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0003487 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0006978 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001265 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001268 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001270 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001315 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001328 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002151 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002166 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002490 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0003477 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0006858 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0007010 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0008969 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0010794 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000365 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000508 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000514 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000639 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000648 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000651 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001249 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001250 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001252 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001271 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001272 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001276 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001344 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001350 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001371 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002059 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002078 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002079 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0005340 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0007668 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0009055 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0000217 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0000969 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0000988 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0000989 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0001097 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0001252 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0001324 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0001373 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0001608 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0001659 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0001945 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0002015 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0002092 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0002093 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0002205 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0002206 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0002664 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0002960 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0003236 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0003326 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0003457 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0006530 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0012735 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0012819 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0100585 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0100614 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0100679 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:81 Antisynthetase syndrome HP:0100749 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000252 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0001249 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0003202 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0003510 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0004326 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000047 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000272 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000274 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000275 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000276 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000286 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000303 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000322 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000400 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000448 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000582 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000772 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000912 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0001510 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0001596 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0008734 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0045074 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0100830 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000160 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000175 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000407 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000486 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000518 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000612 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000767 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0000819 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0001172 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0001250 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0001387 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0001572 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0002023 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0002705 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0003328 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0004209 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0008499 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0010761 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3242 Renpenning syndrome HP:0030853 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000365 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000524 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000618 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000639 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000648 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000763 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002066 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002073 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002166 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002346 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002355 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002464 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0005102 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0006254 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0007126 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0007141 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0007263 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0008180 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000657 ORPHA:95433 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0001976 ORPHA:82 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0040246 ORPHA:82 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0002204 ORPHA:82 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0002625 ORPHA:82 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0002638 ORPHA:82 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0004831 ORPHA:82 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0004420 ORPHA:82 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0005268 ORPHA:82 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0012636 ORPHA:82 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0030242 ORPHA:82 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0030243 ORPHA:82 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0030248 ORPHA:82 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0005305 ORPHA:82 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0012531 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0025474 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0030350 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0030782 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0031236 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0200036 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0000271 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0000464 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0001061 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0001155 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0001974 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0002829 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0003326 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0003565 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0011118 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0011227 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0011897 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0011944 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0025616 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0030783 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0032324 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0100614 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0001903 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0002037 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0002664 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0002719 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0004377 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0004808 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0008066 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0012490 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0020169 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0025452 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0040154 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0040313 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0200037 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0200039 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0001644 ORPHA:3243 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0003002 ORPHA:3243 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3243 Sweet syndrome HP:0005550 ORPHA:3243 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000160 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000175 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000248 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000262 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000270 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000316 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000343 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000368 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000453 ORPHA:83 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000463 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000486 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000494 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000520 ORPHA:83 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000772 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0000774 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0001166 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0001363 ORPHA:83 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0001387 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0001883 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0002007 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0030680 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0002757 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0002980 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0003070 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0003196 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0003275 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0009891 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0010669 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0012210 ORPHA:83 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83 Antley-Bixler syndrome HP:0100490 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002779 ORPHA:95430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0004468 ORPHA:95430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001601 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002093 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002788 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0010307 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0012735 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0030828 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0032355 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0000961 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0000973 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001508 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001609 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001622 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001627 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001686 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002020 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002032 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002090 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002094 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002107 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002575 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002643 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0011968 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0012758 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0030864 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0030966 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0031245 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0032177 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001629 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001631 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001636 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001640 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001643 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0001750 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002089 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002092 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002097 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002104 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002110 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002780 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0002786 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0010773 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0011590 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95430 Congenital tracheomalacia HP:0012020 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000010 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000027 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000028 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000035 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000047 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000072 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000079 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000130 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000135 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000175 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000218 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000238 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000268 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000316 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000324 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000340 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000347 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000364 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000365 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000453 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000478 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000483 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000486 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000492 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000083 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000252 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000286 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000504 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000505 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000508 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000518 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000520 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000568 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000582 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000639 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000813 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0000864 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001000 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001053 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001172 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001199 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001249 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001263 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001347 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001392 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001510 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001511 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001537 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001562 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001631 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001636 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001639 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001643 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001646 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001671 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001679 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001760 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001763 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001770 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001824 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001871 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001873 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001882 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0001903 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002007 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002023 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002119 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002245 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002251 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002414 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002575 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002650 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002664 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002817 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002823 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002827 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0002863 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0040071 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0003022 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0003220 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0004209 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0004322 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0004349 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0005344 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0005522 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0006101 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0006265 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0006501 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0006824 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0007400 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0007565 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0007874 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0008053 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0008572 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0008678 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0010293 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0010469 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0012041 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0012210 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0012639 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0012745 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0100026 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0100542 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0100587 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0100760 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84 Fanconi anemia HP:0100867 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0004197 ORPHA:3246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0004218 ORPHA:3246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0006019 ORPHA:3246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0000256 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0001032 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0001156 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0001245 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0001770 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0005807 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0006101 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0007477 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0009700 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0010179 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0010182 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0010487 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0030084 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0000405 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0001018 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0005650 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0006143 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0010103 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0100371 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3248 Distal symphalangism HP:0005048 ORPHA:3248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3248 Distal symphalangism HP:0001387 ORPHA:3248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3248 Distal symphalangism HP:0009773 ORPHA:3248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3248 Distal symphalangism HP:0100490 ORPHA:3248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002066 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002070 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002073 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002078 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002366 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002493 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0003474 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0007256 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0025404 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0000496 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0000570 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0001260 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0001761 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002317 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002380 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0007141 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0007338 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0010522 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0010831 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0001336 ORPHA:95434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0000505 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0000639 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0000649 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0000662 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0000763 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0000819 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001251 ORPHA:96 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001260 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001268 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001276 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001284 ORPHA:96 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001288 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001310 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001324 ORPHA:96 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001332 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001337 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001639 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0001761 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0002075 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0002167 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0002376 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0002650 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0003202 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0004374 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0007256 ORPHA:96 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0007703 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0009830 ORPHA:96 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96 Ataxia with vitamin E deficiency HP:0011675 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0001263 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0001332 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0002072 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0002310 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0002322 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0002355 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0003557 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0003687 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0003701 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0004305 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0007153 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0007158 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0009046 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0012751 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0030230 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000252 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000508 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000602 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000648 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0001251 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0003477 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0008180 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000365 ORPHA:401768 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000831 ORPHA:401768 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0001638 ORPHA:401768 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0000639 ORPHA:97 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0001251 ORPHA:97 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0002321 ORPHA:97 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0000360 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0000651 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0001260 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0001332 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0002017 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0002076 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0002301 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0000473 ORPHA:97 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0000708 ORPHA:97 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0001249 ORPHA:97 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97 Familial paroxysmal ataxia HP:0006855 ORPHA:97 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0000020 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001251 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001257 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001260 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001272 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001310 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001317 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001320 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001324 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001634 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002061 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002073 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002079 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002317 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002355 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0003487 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007108 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007141 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007256 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007361 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007922 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007979 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0009830 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0011931 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0012104 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0012896 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0100702 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0000708 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001760 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002015 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002066 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002080 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002495 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0003438 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0003693 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0009027 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0010830 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0000802 ORPHA:98 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3230 Deafness-oligodontia syndrome HP:0000359 ORPHA:3230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3230 Deafness-oligodontia syndrome HP:0000407 ORPHA:3230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3230 Deafness-oligodontia syndrome HP:0000677 ORPHA:3230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3230 Deafness-oligodontia syndrome HP:0002321 ORPHA:3230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001308 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001332 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001336 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001618 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001761 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002063 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002072 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002174 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002304 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002310 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002322 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002342 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002345 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002380 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002461 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002495 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0003202 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0003474 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0004305 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007024 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007067 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007141 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007338 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007817 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0010526 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0010530 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0010783 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0010831 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0011168 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0012049 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0012473 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000027 ORPHA:99 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000473 ORPHA:99 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001337 ORPHA:99 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002073 ORPHA:99 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0100543 ORPHA:99 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000496 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000763 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001265 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001271 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001288 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001324 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002071 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002378 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002385 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002423 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002493 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0003390 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0003477 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0006801 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007256 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007305 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0009830 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000407 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000508 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000514 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000520 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000546 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000572 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000580 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000597 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000608 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000639 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000708 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000726 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000962 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001250 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001257 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001260 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001266 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001284 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001300 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95429 Angioma serpiginosum HP:0007797 ORPHA:95429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95429 Angioma serpiginosum HP:0010783 ORPHA:95429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95429 Angioma serpiginosum HP:0011276 ORPHA:95429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95429 Angioma serpiginosum HP:0012733 ORPHA:95429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0000407 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0001053 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0002353 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0002571 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0003202 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0003510 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0001824 ORPHA:95427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0002024 ORPHA:95427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0002244 ORPHA:95427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0004395 ORPHA:95427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0100508 ORPHA:95427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0000832 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0001396 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0001508 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0001510 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0001543 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0001944 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0001977 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0002013 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0002014 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0002019 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0002570 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0002580 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0002591 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0002621 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0003111 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0003270 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0003572 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0004387 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0011473 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0012850 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0030247 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0030248 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0001265 ORPHA:95427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0002251 ORPHA:95427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0011100 ORPHA:95427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0011787 ORPHA:95427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95427 Secondary short bowel syndrome HP:0100806 ORPHA:95427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0001249 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0001250 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0001251 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0001508 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0002243 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0002376 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0002421 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0002465 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0003202 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0007267 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0008947 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0011344 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0012537 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0000253 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0001137 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0001272 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0001336 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0001943 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0002119 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0002910 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0006846 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0007366 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0007420 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95428 COG8-CDG HP:0008151 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0000230 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0000670 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0000682 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0000684 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0000694 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0000706 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0003771 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0006286 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0006297 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0006479 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0006481 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0009722 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0010299 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0011073 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0011084 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0030757 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0040264 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0000212 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0000685 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0001572 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0006283 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0006336 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0009085 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83450 Regional odontodysplasia HP:0200025 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000027 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000045 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000047 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000054 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008665 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000058 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000062 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000133 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000142 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000771 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000786 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000812 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000815 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000837 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000868 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000939 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0002215 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0002225 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0003251 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008214 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040171 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008232 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008726 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008730 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008734 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008736 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0010464 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0011969 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0012244 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0012870 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0100779 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000028 ORPHA:251510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000150 ORPHA:251510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000823 ORPHA:251510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000030 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000149 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000846 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0002750 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008187 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008193 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000100 ORPHA:251510 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0030680 ORPHA:251510 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251510 46,XY partial gonadal dysgenesis HP:0002667 ORPHA:251510 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0007628 ORPHA:137888 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0008572 ORPHA:137888 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0009902 ORPHA:137888 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000160 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000162 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000175 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000183 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000193 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000293 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000324 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000347 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000368 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000377 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000384 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000678 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000689 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0002098 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0002870 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0008772 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0009895 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0010754 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0025267 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0030022 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0100277 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000171 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000256 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000365 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0000508 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0001263 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0001290 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0007627 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0011802 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0011968 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137888 Auriculocondylar syndrome HP:0030713 ORPHA:137888 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0000554 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0000988 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001072 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001231 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001367 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001369 ORPHA:92 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001373 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001386 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001387 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001597 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001698 ORPHA:92 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001744 ORPHA:92 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001803 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0001945 ORPHA:92 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0002024 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0002027 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0002103 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0002240 ORPHA:92 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0002829 ORPHA:92 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0002960 ORPHA:92 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0003765 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0005595 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0100721 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0100773 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92 Juvenile idiopathic arthritis HP:0100781 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000023 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000053 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000158 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000164 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000212 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000280 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000303 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000316 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000389 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000431 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000670 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000708 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000750 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0000768 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0001249 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0001250 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0001369 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0001387 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0001537 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0001744 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0001763 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0001999 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0002024 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0002167 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0002205 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0002240 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0002360 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0002650 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0002684 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0002750 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0040071 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0003103 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0003196 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0003468 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0004337 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0004568 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0008430 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0008551 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0011276 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0012068 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0012471 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0100660 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93 Aspartylglucosaminuria HP:0100729 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0000383 ORPHA:3232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0000405 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0008572 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0008628 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0009738 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0009739 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0009906 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0010628 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3233 Cochleosaccular degeneration-cataract syndrome HP:0000408 ORPHA:3233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3233 Cochleosaccular degeneration-cataract syndrome HP:0000518 ORPHA:3233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3233 Cochleosaccular degeneration-cataract syndrome HP:0005102 ORPHA:3233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3233 Cochleosaccular degeneration-cataract syndrome HP:0001251 ORPHA:3233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3233 Cochleosaccular degeneration-cataract syndrome HP:0001250 ORPHA:3233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002066 ORPHA:95 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0001260 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002070 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002141 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0003487 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0009130 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0010831 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0000570 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0000639 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0000648 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0001310 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0001324 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0001638 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0001760 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0001761 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002080 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002522 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002527 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002650 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002839 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0003390 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0007010 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0010873 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0030183 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0000365 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0000819 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0001257 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0001332 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002015 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002072 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002540 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0002546 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0003431 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95 Friedreich ataxia HP:0007663 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3235 Progressive deafness with stapes fixation HP:0000381 ORPHA:3235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3235 Progressive deafness with stapes fixation HP:0008513 ORPHA:3235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000174 ORPHA:3236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000286 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000405 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000413 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000446 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000508 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000545 ORPHA:3236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000581 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000682 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0002213 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0003042 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0003272 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0004209 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0007477 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0007598 ORPHA:3236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0008773 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90 Argininemia HP:0000708 ORPHA:90 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90 Argininemia HP:0001250 ORPHA:90 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90 Argininemia HP:0001263 ORPHA:90 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90 Argininemia HP:0001987 ORPHA:90 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90 Argininemia HP:0002167 ORPHA:90 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90 Argininemia HP:0002353 ORPHA:90 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90 Argininemia HP:0002478 ORPHA:90 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90 Argininemia HP:0004374 ORPHA:90 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90 Argininemia HP:0008339 ORPHA:90 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90 Argininemia HP:0010864 ORPHA:90 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3237 Multiple synostoses syndrome HP:0000405 ORPHA:3237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3237 Multiple synostoses syndrome HP:0001156 ORPHA:3237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3237 Multiple synostoses syndrome HP:0001387 ORPHA:3237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3237 Multiple synostoses syndrome HP:0004279 ORPHA:3237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3237 Multiple synostoses syndrome HP:0009773 ORPHA:3237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3237 Multiple synostoses syndrome HP:0007598 ORPHA:3237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3237 Multiple synostoses syndrome HP:0010579 ORPHA:3237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3237 Multiple synostoses syndrome HP:0011304 ORPHA:3237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3237 Multiple synostoses syndrome HP:0000324 ORPHA:3237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3237 Multiple synostoses syndrome HP:0001597 ORPHA:3237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0000938 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0000939 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0001510 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0001513 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0002653 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0002663 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0002750 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0002857 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0003077 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0003251 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0003782 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0008222 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0008675 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0010458 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0000855 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0000956 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0001397 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0002050 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0002230 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0005978 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0000028 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0000061 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0000098 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0000786 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91 Aromatase deficiency HP:0000815 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0000405 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0001156 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0001634 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0001653 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0002705 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0003312 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0003510 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0004279 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0005048 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0000692 ORPHA:3238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0006352 ORPHA:3238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001824 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002014 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002027 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002579 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0004385 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0025085 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0100749 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001635 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001697 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001903 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001945 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001974 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002094 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002105 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002202 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002563 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002625 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002910 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0003073 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0003155 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0005214 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0011919 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0012735 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0025044 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0032016 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0100282 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0100523 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000613 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000708 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000751 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0001250 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0001945 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002013 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002018 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002315 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002383 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002921 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002922 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0200149 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0410263 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000324 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000572 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000651 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000711 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000737 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0001254 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0001269 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0001289 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0001317 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002134 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002143 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002181 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002381 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002418 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002500 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002516 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002538 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002721 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0006897 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0007011 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0007185 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0007361 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0010628 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0011441 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0012246 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0012286 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0012747 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0020059 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0025258 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0031179 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0031910 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0032252 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000223 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000246 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000618 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0000834 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0001251 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0001259 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0001482 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0001700 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0002090 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0004409 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0011675 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0011947 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0012804 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0030953 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0031731 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0032162 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0032620 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0040197 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0100583 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0200026 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0200034 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0200039 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:68 Amoebiasis due to free-living amoebae HP:0200042 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000586 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000765 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000883 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0001344 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002015 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002020 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002100 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002119 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002194 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0003100 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0003199 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0003244 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0003312 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0008897 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0009237 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0009875 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0009882 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0031207 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0100759 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000774 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000940 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0001263 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0001290 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002240 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002910 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0003016 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0006462 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0011849 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0100774 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000239 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000325 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000463 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000316 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000347 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000348 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000520 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000790 ORPHA:63 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0012577 ORPHA:63 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0030034 ORPHA:63 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000083 ORPHA:63 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000093 ORPHA:63 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000822 ORPHA:63 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0012574 ORPHA:63 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000092 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000097 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000100 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000123 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000407 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000478 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000495 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000794 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0002907 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0003774 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0004722 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0005576 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0011488 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0011501 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0012045 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0012576 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0025005 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0032583 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0000608 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0001679 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0002013 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0002015 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0002094 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0002837 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0004942 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0006756 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0007787 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0008665 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0010307 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0012735 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63 Alport syndrome HP:0410019 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002091 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002591 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002788 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002808 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002910 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002943 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0003474 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0004438 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0004469 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0004626 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0005978 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0006532 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0007722 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0008373 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0010863 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0011108 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0012622 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0025383 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0030948 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0031865 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000010 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000012 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000016 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000020 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000054 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000099 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000147 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000230 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000311 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000490 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000729 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000771 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000798 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000824 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000832 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000858 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001007 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001123 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001394 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001395 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001397 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001399 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001409 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001433 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001635 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001685 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001744 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001751 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001831 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002020 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002040 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002092 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002098 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002213 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002240 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002292 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002311 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002925 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0003774 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0005616 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0006510 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0007010 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0007787 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0008625 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0008734 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0009381 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0009804 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0009894 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0010790 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0011073 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0011510 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0012041 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0012115 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0012786 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0012860 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0025335 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0025336 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0025488 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0025496 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0030348 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0031507 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0031936 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0100518 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0410019 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001251 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001733 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002360 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002480 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0003326 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0010465 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0011147 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0012569 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0100543 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000388 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000408 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000548 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000556 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000572 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000618 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000639 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000855 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001513 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0002155 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0003077 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0004322 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000009 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000518 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000543 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000613 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000815 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000822 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000842 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0000956 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001328 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001644 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001763 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64 Alström syndrome HP:0001956 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0000365 ORPHA:65 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0000512 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0000518 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0000563 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0000639 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0001141 ORPHA:65 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0001249 ORPHA:65 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0001250 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0001252 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0001263 ORPHA:65 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0002084 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0002269 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0004374 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0006817 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0007703 ORPHA:65 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65 Leber congenital amaurosis HP:0012795 ORPHA:65 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000648 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000729 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001249 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001250 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001252 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001263 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001999 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0002079 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0007663 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000286 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000365 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000411 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000426 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000463 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000486 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000565 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000577 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000582 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000609 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000646 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000722 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001123 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001182 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001344 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0003194 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0007018 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0007766 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0008762 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0011039 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0100704 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000540 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000545 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000563 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000639 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001257 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0002750 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0004322 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0012448 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0025100 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0000218 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0000368 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0000463 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0000656 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001250 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001252 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001276 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001371 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001522 ORPHA:85212 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001558 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001743 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001744 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001789 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001873 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001876 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0001989 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0002170 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0002240 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0002804 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0003811 ORPHA:85212 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0003826 ORPHA:85212 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0005280 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0007479 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85212 Fetal Gaucher disease HP:0008064 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0000023 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0000112 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0000280 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0000365 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0000750 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0000768 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0000939 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0000943 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001103 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001250 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001251 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001263 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001290 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001324 ORPHA:87876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001337 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001371 ORPHA:87876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001537 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001541 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001618 ORPHA:87876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001744 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0001789 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0002094 ORPHA:87876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0002240 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0002808 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0003202 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0004322 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0005561 ORPHA:87876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0007957 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0010306 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0010741 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87876 Sialidosis type 2 HP:0100022 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73229 HANAC syndrome HP:0000083 ORPHA:73229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73229 HANAC syndrome HP:0003394 ORPHA:73229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73229 HANAC syndrome HP:0005562 ORPHA:73229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73229 HANAC syndrome HP:0012841 ORPHA:73229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73229 HANAC syndrome HP:0000790 ORPHA:73229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0001231 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0001249 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0003241 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0003777 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0008388 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0011362 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0045074 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0100643 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000311 ORPHA:3220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000786 ORPHA:3220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0001176 ORPHA:3220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0004322 ORPHA:3220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0011675 ORPHA:3220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000763 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000956 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0001265 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0002514 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0002750 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0008064 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0009830 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0009890 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0010547 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0100490 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000135 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000164 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000365 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000407 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000492 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000534 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000614 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000679 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000682 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000819 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60 Alpha-1-antitrypsin deficiency HP:0000100 ORPHA:60 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60 Alpha-1-antitrypsin deficiency HP:0000952 ORPHA:60 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60 Alpha-1-antitrypsin deficiency HP:0001399 ORPHA:60 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60 Alpha-1-antitrypsin deficiency HP:0002097 ORPHA:60 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60 Alpha-1-antitrypsin deficiency HP:0002240 ORPHA:60 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60 Alpha-1-antitrypsin deficiency HP:0012115 ORPHA:60 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0003396 ORPHA:99857 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0040272 ORPHA:99857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0000224 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0001618 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0002355 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0002922 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0003401 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0003418 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0003473 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0003474 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0006824 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0007209 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0010532 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0010550 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0010871 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0012229 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0000622 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0000639 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0001250 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0001283 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0002073 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0002858 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0003409 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0007024 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0007305 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99857 Secondary syringomyelia HP:0100518 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0003565 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0030153 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0032106 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0100523 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0100806 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0100889 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001405 ORPHA:480520 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001406 ORPHA:480520 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0011040 ORPHA:480520 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0000077 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0000952 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001945 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0002027 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0002240 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0002904 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0002908 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0003155 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0025143 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0030151 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0032545 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0000113 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0000989 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001394 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001399 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001409 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001733 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001873 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001882 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001892 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001971 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0001974 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0002040 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0002248 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0002249 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0002612 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480520 Caroli syndrome HP:0002910 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000158 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000280 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000365 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000518 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0001249 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0001263 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0001744 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0002240 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0002652 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0002750 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0004493 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0005280 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0005978 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0007957 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0008821 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000023 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000189 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000212 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000316 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000336 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000389 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000400 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000470 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000708 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0001252 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0001385 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0002650 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0002808 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0006487 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0010807 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0011039 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0011354 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000256 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000303 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000687 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000689 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0000738 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0001369 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0002205 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0002516 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0010885 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:61 Alpha-mannosidosis HP:0100240 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0011755 ORPHA:95496 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0000864 ORPHA:95496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0001508 ORPHA:95496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0004322 ORPHA:95496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0000821 ORPHA:95496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0000823 ORPHA:95496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0001943 ORPHA:95496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0008736 ORPHA:95496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0000028 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0000786 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0000835 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0000873 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0001249 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0001250 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0001263 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0001522 ORPHA:95496 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:95496 Pituitary stalk interruption syndrome HP:0100842 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0000407 ORPHA:3222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0001251 ORPHA:3222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0002149 ORPHA:3222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0000083 ORPHA:3222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0001249 ORPHA:3222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0001252 ORPHA:3222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0001679 ORPHA:3222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0002167 ORPHA:3222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0000486 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0000496 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0000822 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0001638 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0011675 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0003011 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0001771 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0002359 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0002515 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003236 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003307 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003391 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003551 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003560 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003691 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003701 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003707 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0006467 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0030051 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0002943 ORPHA:62 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0001508 ORPHA:99852 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0002039 ORPHA:99852 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0002448 ORPHA:99852 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0004325 ORPHA:99852 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0000932 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0001251 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0001257 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0002134 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0002363 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0007366 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0000496 ORPHA:99852 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0006958 ORPHA:99852 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0001600 ORPHA:99852 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99852 Ravine syndrome HP:0002104 ORPHA:99852 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000047 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000324 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000358 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000369 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000407 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000411 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0005916 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001249 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001321 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001761 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0002119 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0002120 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0002334 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0005105 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0007477 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0011220 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000164 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000286 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000316 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001273 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001596 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001770 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001956 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0002167 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0002558 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0003468 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0006101 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0010109 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome HP:0000407 ORPHA:3225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome HP:0002902 ORPHA:3225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome HP:0010286 ORPHA:3225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001644 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001960 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002150 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002901 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002917 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0012608 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0000121 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0000859 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001635 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001645 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001698 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002487 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002829 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0003472 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0003527 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0003739 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0006559 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0011038 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0100598 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002069 ORPHA:73224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000407 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001004 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001873 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002167 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002488 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002878 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0003010 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0005528 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0011991 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0012378 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000389 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000572 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000587 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000978 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000980 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001744 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001824 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001945 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002017 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002076 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002170 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002205 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002240 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002321 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0100724 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001974 ORPHA:3226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002716 ORPHA:3226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0005547 ORPHA:3226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000708 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000718 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000736 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000938 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0001072 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0001388 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0003127 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0007018 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0007387 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0007483 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0010719 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0011125 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0011368 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0025080 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0025160 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0100710 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000750 ORPHA:73223 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0002353 ORPHA:73223 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000233 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000286 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000337 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000343 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000347 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000431 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000574 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000664 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000689 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0001593 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0001653 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0003307 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0003691 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0005180 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0011065 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0011074 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0011220 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0012365 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0012520 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0040022 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0040025 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0001934 ORPHA:79 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0005261 ORPHA:79 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0000790 ORPHA:79 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0001892 ORPHA:79 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0012151 ORPHA:79 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0012233 ORPHA:79 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0040247 ORPHA:79 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0000225 ORPHA:79 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0000978 ORPHA:79 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0002170 ORPHA:79 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0002653 ORPHA:79 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0011884 ORPHA:79 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0002061 ORPHA:401785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0001260 ORPHA:401785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0001347 ORPHA:401785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0002355 ORPHA:401785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0030051 ORPHA:401785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0001284 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0001317 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0002064 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0002169 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0002943 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0003202 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0006380 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0012514 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0040075 ORPHA:95494 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000044 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000141 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000457 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000789 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000824 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000938 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001510 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001943 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0002615 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0002920 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0008245 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0008734 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0009888 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0010311 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0010626 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0010627 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0012378 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0040086 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000823 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000839 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0002019 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0002750 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0005625 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0008187 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000478 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000609 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001250 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001274 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001331 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001360 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0004637 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0008501 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0010442 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0011297 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0011344 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0011755 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0012731 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0100842 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002315 ORPHA:74 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0012229 ORPHA:74 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0032061 ORPHA:74 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0000651 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0000737 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0001262 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0001287 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0001945 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002013 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002019 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002027 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002516 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002587 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002829 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0003326 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0003401 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0004396 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0011450 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0012378 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0025258 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0032064 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0410263 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0000622 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0000989 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0001250 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0001324 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002018 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002119 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002181 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0002460 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0003237 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0003261 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0003496 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0012531 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0030833 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0031179 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0032336 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0001259 ORPHA:74 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:74 Angiostrongyliasis HP:0100963 ORPHA:74 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000003 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000028 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000046 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000126 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000252 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000280 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000316 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000343 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000347 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000365 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000369 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000426 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000445 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000448 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000684 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000750 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0000946 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0001249 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0001250 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0001263 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0001274 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0001631 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0001762 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0002020 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0002089 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0002104 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0002209 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0002213 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0002804 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0002974 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0003175 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0003273 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0004279 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0004322 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0006380 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0006443 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0008665 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85201 Genitopatellar syndrome HP:0011968 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0000256 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0002597 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0003005 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0010612 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0012032 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0012740 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0012846 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0000729 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0001028 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0001480 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0002664 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0002890 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0003002 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0005584 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0012114 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0045059 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0200034 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0000077 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0000854 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0001249 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0003003 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0005987 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0008046 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306498 PTEN hamartoma tumor syndrome HP:0012480 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0000276 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0000340 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0000365 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0000403 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0000430 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0000445 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0000648 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0001027 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0001250 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0001256 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0001263 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0001596 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0001629 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0002092 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0002205 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0004322 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0004334 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0004415 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0005280 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0009882 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0011108 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0011800 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0100593 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85202 Keutel syndrome HP:0100682 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85203 Acropectoral syndrome HP:0000765 ORPHA:85203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85203 Acropectoral syndrome HP:0001177 ORPHA:85203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85203 Acropectoral syndrome HP:0006101 ORPHA:85203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000407 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002024 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002028 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002301 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002570 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002588 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0003457 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0004326 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000508 ORPHA:3217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000600 ORPHA:3217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0001265 ORPHA:3217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002167 ORPHA:3217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000496 ORPHA:3217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000992 ORPHA:3217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0001156 ORPHA:3217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0004279 ORPHA:3217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000023 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000307 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000325 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000365 ORPHA:3218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000470 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000541 ORPHA:3218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000545 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000579 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0001156 ORPHA:3218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0001256 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0001263 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0001537 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0002007 ORPHA:3218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0002167 ORPHA:3218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0003307 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0003312 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0004322 ORPHA:3218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0006499 ORPHA:3218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0010306 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000154 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000174 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000179 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000212 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000232 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000256 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000276 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000280 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000282 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000286 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000293 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000311 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000316 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000407 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000505 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000508 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000545 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000574 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000664 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000767 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000965 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0000974 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0001156 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0005916 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0001176 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0001249 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0001250 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0001482 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0001760 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0002167 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0002353 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0002414 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0002650 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0002808 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0003298 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0003312 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0004322 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0004493 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0009882 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0010783 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0011800 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0100255 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0100670 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3219 Fountain syndrome HP:0200034 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0003202 ORPHA:70 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0003701 ORPHA:70 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001283 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001284 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001308 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001315 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002015 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002033 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002100 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002355 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002460 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002540 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002643 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002747 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0003327 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0003551 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0003731 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0004878 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0004891 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0009046 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0012378 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0030319 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0031108 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001252 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001263 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001270 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001319 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001349 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001371 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001558 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001631 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002019 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002020 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002091 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002421 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002578 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002650 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002791 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002827 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002828 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002878 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002942 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0003698 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0006380 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0006844 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0008959 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0009053 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001662 ORPHA:70 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0001942 ORPHA:70 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70 Proximal spinal muscular atrophy HP:0002987 ORPHA:70 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0003652 ORPHA:99845 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0001324 ORPHA:99845 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0001945 ORPHA:99845 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0030234 ORPHA:99845 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0040319 ORPHA:99845 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0000083 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0001315 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0002910 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0003554 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0003558 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0003738 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0008305 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0010969 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0012544 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0025435 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0100614 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0000467 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0001919 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0002153 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0002167 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0002355 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0002901 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0002905 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0003394 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0005216 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0007340 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0008997 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0011675 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0030195 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0045037 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0100520 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99845 Genetic recurrent myoglobinuria HP:0005521 ORPHA:99845 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0002014 ORPHA:71 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0003146 ORPHA:71 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0000488 ORPHA:71 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0002570 ORPHA:71 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0002630 ORPHA:71 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0002910 ORPHA:71 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0001508 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0001510 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0002013 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0003270 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0006565 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0100508 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0000505 ORPHA:71 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0001397 ORPHA:71 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0003458 ORPHA:71 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0001284 ORPHA:71 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0001927 ORPHA:71 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0003198 ORPHA:71 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0010831 ORPHA:71 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71 Chylomicron retention disease HP:0002155 ORPHA:71 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0000098 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0000256 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0000275 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0000286 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0000316 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0001156 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0001357 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0001363 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0001513 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0002857 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0004209 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0004279 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0005487 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0006101 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0000445 ORPHA:3210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0000457 ORPHA:3210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0000486 ORPHA:3210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0001249 ORPHA:3210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0010044 ORPHA:3210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3210 Summitt syndrome HP:0100490 ORPHA:3210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000252 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000708 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000729 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000748 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000750 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000752 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0001250 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0001251 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0001270 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0001337 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002120 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002136 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002167 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002353 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002360 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002465 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0010864 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0011344 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0100716 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000154 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000483 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000486 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0001010 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0001513 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0001999 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002019 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002020 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002286 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002307 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002591 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002650 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0006979 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0007730 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0008947 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0010808 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0011024 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0011968 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0100023 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000303 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000508 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000540 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000543 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000545 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000563 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000639 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000646 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000648 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000687 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000718 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000739 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0000817 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0001336 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0001344 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002013 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002015 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002033 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002123 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002133 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0002540 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0005469 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0007266 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0007270 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0008081 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0010465 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0010819 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0011471 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0012569 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0040082 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0040288 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0100703 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:72 Angelman syndrome HP:0012469 ORPHA:72 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0002797 ORPHA:73 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0010639 ORPHA:73 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0010657 ORPHA:73 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0000473 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0000938 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0000969 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0002653 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0002683 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0003319 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0004302 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0005216 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0005731 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0009139 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0010754 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0011384 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0011821 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0011849 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0012294 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0031417 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0045039 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0100764 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0200025 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0000265 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0000365 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0001167 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0002202 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0002756 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0002823 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0007099 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0007461 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0045027 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0430005 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0001287 ORPHA:73 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0002176 ORPHA:73 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0002754 ORPHA:73 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:73 Gorham-Stout disease HP:0040163 ORPHA:73 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0004784 ORPHA:480536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0005227 ORPHA:480536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0200063 ORPHA:480536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0000131 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0000854 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0003003 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0004394 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0008069 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0009592 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0012126 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0012740 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0100743 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0000107 ORPHA:480536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0025274 ORPHA:480536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000407 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000486 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000639 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000684 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000953 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0001053 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0001480 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0001572 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0005599 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0007565 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000322 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000348 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000482 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000612 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0001288 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0007730 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0011483 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000679 ORPHA:3214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0001276 ORPHA:3214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0002705 ORPHA:3214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0008499 ORPHA:3214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0200007 ORPHA:3214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0001257 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0001271 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0002355 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0002815 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0005109 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0007083 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0007178 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0012407 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001250 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001511 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001518 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001935 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001954 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002059 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002360 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0010864 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000010 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000166 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000189 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000212 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000252 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000294 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000303 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000316 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000385 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000403 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000405 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000431 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000457 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000491 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000527 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001169 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001251 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001290 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001347 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001537 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001845 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002002 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002028 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002240 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0005280 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0006480 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0006532 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0006895 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0007041 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0007333 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0008551 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0009826 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0010808 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0011229 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0011341 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0020045 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0031123 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0031629 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0100540 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0100699 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0200037 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000280 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001508 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001903 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001974 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002719 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0004322 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0011897 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0410292 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000729 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000135 ORPHA:3216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000218 ORPHA:3216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000369 ORPHA:3216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000377 ORPHA:3216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000384 ORPHA:3216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000396 ORPHA:3216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000402 ORPHA:3216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000405 ORPHA:3216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000407 ORPHA:3216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0001263 ORPHA:3216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0004299 ORPHA:3216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0004452 ORPHA:3216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0008551 ORPHA:3216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0003326 ORPHA:45 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0003394 ORPHA:45 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0003690 ORPHA:45 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0003738 ORPHA:45 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0009020 ORPHA:45 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0002151 ORPHA:45 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0008331 ORPHA:45 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0000219 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0000248 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0000252 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0000319 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0000343 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0000369 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0000463 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0001249 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0001250 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0001290 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0001344 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0001999 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0003196 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0005469 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0005487 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0007103 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46 Adenylosuccinate lyase deficiency HP:0011344 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0000162 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0000246 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0000389 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0000407 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0000509 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0000988 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0001053 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0001287 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0001369 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0001508 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0001596 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0001824 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0001873 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0001875 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0001903 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0001945 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0002024 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0002028 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0002088 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0002664 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0002721 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0002754 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0002901 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0002960 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0004322 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0004432 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0006532 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0012115 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0012378 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0100658 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0100763 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0100765 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0100806 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0100838 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47 X-linked agammaglobulinemia HP:0200042 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0001258 ORPHA:401795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0000639 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0001762 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002061 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002064 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002169 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002395 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002509 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0001249 ORPHA:401795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0001317 ORPHA:401795 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002500 ORPHA:401795 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0001712 ORPHA:217607 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0025169 ORPHA:217607 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0001508 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0001635 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0002094 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0005110 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0005133 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0011675 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0012664 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0001653 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0001962 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0004308 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0004890 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0011713 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0012735 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0040081 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217607 Familial dilated cardiomyopathy HP:0001677 ORPHA:217607 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:48 Congenital bilateral absence of vas deferens HP:0012210 ORPHA:48 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48 Congenital bilateral absence of vas deferens HP:0000798 ORPHA:48 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48 Congenital bilateral absence of vas deferens HP:0003251 ORPHA:48 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48 Congenital bilateral absence of vas deferens HP:0011962 ORPHA:48 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48 Congenital bilateral absence of vas deferens HP:0012873 ORPHA:48 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:41 Dyschromatosis symmetrica hereditaria HP:0001304 ORPHA:41 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:41 Dyschromatosis symmetrica hereditaria HP:0007988 ORPHA:41 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:41 Dyschromatosis symmetrica hereditaria HP:0011509 ORPHA:41 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:41 Dyschromatosis symmetrica hereditaria HP:0012733 ORPHA:41 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001252 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001315 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001410 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001987 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002013 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002240 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003215 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003473 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003701 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003738 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0011936 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0030199 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0000256 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0000750 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001251 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001254 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001259 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001397 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001640 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001943 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001946 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002014 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002069 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002373 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002875 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002910 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003198 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003202 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003236 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003394 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0004326 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0005684 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0007185 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0011675 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0012378 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0040155 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0045040 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000504 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000505 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000572 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000708 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000726 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000752 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0001249 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0001288 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0001328 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0001730 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0001939 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0002311 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0002312 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0002315 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0002385 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0003474 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0004302 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0007018 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0007199 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0008969 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0100543 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000011 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000718 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000734 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000846 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0001123 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0001269 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0002381 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0002516 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0002839 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0003154 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0008768 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0011733 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000651 ORPHA:43 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0000802 ORPHA:43 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43 X-linked adrenoleukodystrophy HP:0003470 ORPHA:43 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000174 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000256 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000268 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000368 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000407 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000463 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000486 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000505 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000508 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000639 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000648 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0001250 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0001252 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0001347 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0001392 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0001939 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0002269 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0002353 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0002376 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0004322 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0007598 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000260 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000348 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000431 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0000518 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0007703 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0008207 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0011344 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44 Neonatal adrenoleukodystrophy HP:0100022 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0000014 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0000028 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0000052 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0000062 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0000072 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0000126 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0000358 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0000800 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0001562 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0001629 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0001631 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0001776 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0002023 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0002089 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0002575 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0003196 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0005280 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0005944 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0006827 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0009800 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0010480 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0010945 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0010958 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0030261 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0012583 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0012584 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0012620 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0012732 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49 Penile agenesis HP:0100590 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0008066 ORPHA:555905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0031234 ORPHA:555905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0200037 ORPHA:555905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0000989 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0011354 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0012531 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0030057 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0031539 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0100792 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0200035 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0200039 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0200041 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0200097 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0001880 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0003261 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0025528 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0031292 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0032335 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:555905 IgA pemphigus HP:0100279 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000164 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000211 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000478 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000504 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000632 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000821 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000935 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000938 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000939 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000944 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000960 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000966 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0000975 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0001252 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0001371 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0001376 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0001511 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0001562 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0001762 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0001954 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0002098 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0002099 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0002104 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0012332 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0002650 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0002652 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0002757 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0002857 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0002983 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0002987 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0003016 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0003103 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0003401 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0004322 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0006380 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0006487 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0006844 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0007328 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0008000 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0008872 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0010298 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0012785 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0100028 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3206 Stüve-Wiedemann syndrome HP:0100490 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000252 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000316 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000347 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000431 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000494 ORPHA:3207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000664 ORPHA:3207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0001181 ORPHA:3207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0001249 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0001252 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0001347 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0002007 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0002119 ORPHA:3207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0002120 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0004322 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0007360 ORPHA:3207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0007370 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0012430 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0006801 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0007083 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0007272 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0007350 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0007663 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000737 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001250 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001251 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001285 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001290 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001511 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002313 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002359 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002474 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003202 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0005150 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0006380 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0006895 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0008872 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0011343 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0012817 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0011166 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0040196 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000076 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000544 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000580 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000618 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000639 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000726 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002421 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002505 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000478 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001257 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001270 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001626 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001639 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001712 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001824 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002123 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002333 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002376 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003324 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003388 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003487 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003508 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003510 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003693 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003701 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003756 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0005162 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0000268 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0000912 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0001156 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0001387 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0002007 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0002650 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0002808 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0003086 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0003300 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0003307 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0003312 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0003498 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0004568 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0005280 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0005692 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0006487 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0008422 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0011220 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000277 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0001182 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0001773 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0001831 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0004322 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0004408 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0009882 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0011675 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000176 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000294 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000668 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0001373 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0002705 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0010185 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000162 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000252 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0001249 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0010044 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0100490 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001878 ORPHA:3202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001930 ORPHA:3202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0005502 ORPHA:3202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001081 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001744 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001923 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001972 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001981 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0003281 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0003573 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0011042 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0025435 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0000969 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001046 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001907 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0002027 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0003265 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0004804 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0005518 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0010972 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0012431 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0020063 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0025548 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001901 ORPHA:3202 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0030242 ORPHA:3202 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0030950 ORPHA:3202 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000739 ORPHA:444002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001252 ORPHA:444002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001263 ORPHA:444002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000219 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000286 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000341 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000347 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000358 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000369 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000486 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000508 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000545 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000574 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000722 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000736 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000750 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000753 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000817 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000953 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001028 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001156 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001250 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001256 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001260 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001513 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001773 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0002079 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0002194 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0002307 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0002421 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0002705 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0004209 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0005280 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0007018 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0007598 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0011368 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0011968 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0012433 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0012448 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0012758 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0030190 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0200034 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0200055 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000708 ORPHA:444002 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000750 ORPHA:447997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001249 ORPHA:447997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001347 ORPHA:447997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001252 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001270 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001276 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002015 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002061 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002079 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0005484 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0011451 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0012444 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000020 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000316 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000369 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000411 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000431 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000664 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000733 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000737 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000752 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001999 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002020 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002069 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002169 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002205 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002521 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002828 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0003739 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0005280 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0006808 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0011471 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0012167 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0012469 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0001878 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0001923 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0004446 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0005502 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0025065 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0025547 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0001046 ORPHA:3203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0001744 ORPHA:3203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0001977 ORPHA:3203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0011273 ORPHA:3203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0025435 ORPHA:3203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0000348 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0000490 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0000616 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0000979 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0001746 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0001872 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0002167 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0003011 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0004322 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0008064 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0001903 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0001928 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001251 ORPHA:94147 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001260 ORPHA:94147 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001310 ORPHA:94147 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001347 ORPHA:94147 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000548 ORPHA:94147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0002015 ORPHA:94147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000572 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000597 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000602 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000639 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001098 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001263 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001268 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001270 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001272 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001319 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001324 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001508 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001635 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0002059 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0002075 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0002310 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0003474 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0003487 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0007663 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0011968 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0012452 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000608 ORPHA:94147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000613 ORPHA:94147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000618 ORPHA:94147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000709 ORPHA:94147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94147 Spinocerebellar ataxia type 7 HP:0012047 ORPHA:94147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0000707 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0000716 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0000870 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0000958 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0001254 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0001510 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0001609 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0002750 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0005990 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0006579 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0008202 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0008245 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0012378 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0012758 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0025483 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0025502 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0031219 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0031507 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0032210 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0000853 ORPHA:99832 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0002925 ORPHA:99832 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0030057 ORPHA:99832 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0001250 ORPHA:3205 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0005306 ORPHA:3205 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000486 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000501 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000648 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000708 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0001249 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0001297 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0001347 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0007018 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0100659 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000212 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000238 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000256 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000364 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000478 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000496 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000504 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000524 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000541 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000610 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000612 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000618 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0000729 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0001100 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0001131 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0002015 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0002120 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0002167 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0002204 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0002308 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0002514 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0004936 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0008046 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0012377 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0100761 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3205 Sturge-Weber syndrome HP:0100774 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0000024 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0000364 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0000366 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0000478 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0000504 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0000592 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0000787 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0000822 ORPHA:56 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0001000 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0001369 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0001373 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0001386 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0001387 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0001597 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0001654 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0001658 ORPHA:56 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0001717 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0002621 ORPHA:56 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0002758 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0002829 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0003355 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0004349 ORPHA:56 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0004380 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0004382 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0004690 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0005645 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0007400 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0100550 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0100593 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56 Alkaptonuria HP:0100773 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001945 ORPHA:57 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0012545 ORPHA:57 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001324 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001878 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0003326 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0003458 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0003558 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0003756 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0008331 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0009045 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0100295 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0000750 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001249 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001270 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001328 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001510 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001919 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0002153 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0002913 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0003199 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0011675 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000256 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001249 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001250 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001257 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001274 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001347 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001355 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001508 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002007 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002017 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002167 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002169 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002353 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002360 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002650 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0007256 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0100729 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000496 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000508 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000639 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000651 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000712 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000716 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000975 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001251 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001260 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001288 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001337 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001618 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002015 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002019 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002045 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002381 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002445 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002514 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002615 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002808 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0010535 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0010628 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0100247 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000218 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000238 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000470 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000819 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000821 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000822 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000826 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0000938 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001252 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001324 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0001645 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002072 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002093 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002376 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002383 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002410 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0012332 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0002607 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0003307 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0007481 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:58 Alexander disease HP:0100716 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001249 ORPHA:59 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0008936 ORPHA:59 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000275 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000276 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000750 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000767 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001251 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001257 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001266 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001332 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001347 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001531 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001763 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002058 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002751 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002926 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0003202 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0007256 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0008081 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0008872 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0012444 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0012448 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0031936 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0045082 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000028 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000252 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000639 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001250 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001256 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001319 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001348 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001371 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001558 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002071 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002187 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002342 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002421 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002509 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002510 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0003324 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0003487 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0004322 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0006579 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0010864 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0011448 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001518 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001561 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001622 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0004488 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0011451 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:59 Allan-Herndon-Dudley syndrome HP:0100660 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000028 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000069 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000100 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000248 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000280 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000307 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000311 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000316 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000322 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000347 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000411 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000486 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000490 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000494 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000563 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000615 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000772 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000822 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0000823 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0001131 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0001256 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0001328 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0001396 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0001508 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0001511 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0001629 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0001631 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0002007 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0002240 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0002750 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0003022 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0003189 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0003298 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0003312 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0003422 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0004209 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0004617 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0004969 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0006571 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0008678 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0009882 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0012368 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52 Alagille syndrome HP:0100585 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0000164 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0000238 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0000256 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0000365 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0000505 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0000618 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0000648 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0000670 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0000944 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0005916 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0001369 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0001373 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0001881 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0001903 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0002007 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0002653 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0002754 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0002757 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0002758 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0002857 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0002901 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0004322 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0005789 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0005930 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0006824 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0007626 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0009882 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0010628 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53 Albers-Schönberg osteopetrosis HP:0010885 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0000483 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0000486 ORPHA:54 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0000505 ORPHA:54 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0000545 ORPHA:54 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0000613 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0000615 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0000639 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0001103 ORPHA:54 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0001107 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0001480 ORPHA:54 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0005592 ORPHA:54 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0007730 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0007750 ORPHA:54 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54 X-linked recessive ocular albinism HP:0008069 ORPHA:54 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0000539 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0000613 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0000639 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0000992 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0007513 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0007663 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0007730 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0007750 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0007894 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0000486 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0001010 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0001107 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0002226 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0002227 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0005599 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0006739 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0011358 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0011364 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0200098 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0002297 ORPHA:55 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0002671 ORPHA:55 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0000612 ORPHA:55 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:55 Oculocutaneous albinism HP:0012056 ORPHA:55 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome HP:0000407 ORPHA:1490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome HP:0000505 ORPHA:1490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome HP:0000639 ORPHA:1490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome HP:0001131 ORPHA:1490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome HP:0007957 ORPHA:1490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0000252 ORPHA:1497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0001249 ORPHA:1497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0001250 ORPHA:1497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0001257 ORPHA:1497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0001321 ORPHA:1497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0001324 ORPHA:1497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0002251 ORPHA:1497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000252 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000262 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000486 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000545 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000639 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0001249 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0001250 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0001263 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0001274 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0001363 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0002353 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0002410 ORPHA:1496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0004374 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0007703 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002315 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0003236 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0003237 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0003326 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0003645 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0020071 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0025258 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0025435 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0030833 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0032198 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0200026 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000225 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001873 ORPHA:99827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001945 ORPHA:99827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0003496 ORPHA:99827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0030005 ORPHA:99827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000421 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002014 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002017 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002027 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002039 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002240 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000509 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000613 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000707 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000713 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000712 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000790 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000822 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000952 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000975 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000979 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001259 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001262 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001289 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001399 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001649 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001662 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001744 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001882 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001974 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002105 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002248 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002249 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002321 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002380 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002615 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002716 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0025143 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0031364 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0100247 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000031 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000093 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000573 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000846 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001082 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001541 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001698 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001735 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001876 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002092 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002829 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0005162 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0007420 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011029 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011710 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011850 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011854 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011896 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011897 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0012151 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0012219 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0012282 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0012819 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0025420 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0031218 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0100309 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0100796 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000160 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000174 ORPHA:1495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000252 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000347 ORPHA:1495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000348 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000384 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000411 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000639 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000648 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001250 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001276 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001510 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001511 ORPHA:1495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001522 ORPHA:1495 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001608 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001883 ORPHA:1495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0002020 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0002079 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0002119 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0030680 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0002750 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0003196 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0004322 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0006532 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0010864 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0010978 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0100490 ORPHA:1495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0000225 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0000421 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0000967 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0000978 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0000988 ORPHA:99828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0000989 ORPHA:99828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0001254 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0001342 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0001541 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0001873 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0001882 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0001945 ORPHA:99828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0002014 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0002017 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0002027 ORPHA:99828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0002239 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0002240 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0002315 ORPHA:99828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0002615 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0002829 ORPHA:99828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0003075 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99828 Dengue fever HP:0006543 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0001945 ORPHA:99829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0002018 ORPHA:99829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0003496 ORPHA:99829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0020071 ORPHA:99829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0031964 ORPHA:99829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0000083 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0001662 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0001892 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0001919 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0001942 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0002013 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0002027 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0002248 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0002315 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0002829 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0003236 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0003259 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0003326 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0006277 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0025143 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0030139 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0030783 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0031956 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0000952 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0001250 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0001259 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0001735 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0001873 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0001974 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0002014 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0002904 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0003225 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0003419 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0005115 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0008151 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0011897 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0011900 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0030005 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0031273 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0032066 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0000988 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0002133 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0002516 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0011029 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0012664 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0031690 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99829 Yellow fever HP:0100519 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0000218 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0000316 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0000407 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0000437 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0000518 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0000601 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0000639 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0000648 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001010 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001103 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001249 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001250 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001252 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001263 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001274 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001321 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001387 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001522 ORPHA:1493 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001638 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0001947 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0002120 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0002205 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0002353 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0002360 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0002719 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0004315 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0004322 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0005374 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0005999 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0002282 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0007703 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0008348 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0008872 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0011968 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1493 Vici syndrome HP:0012110 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0001945 ORPHA:99824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0003496 ORPHA:99824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0005268 ORPHA:99824 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0020071 ORPHA:99824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0025406 ORPHA:99824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0400008 ORPHA:99824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0001324 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0002015 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0002017 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0002027 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0002315 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0012735 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0025439 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0100749 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0000282 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0000365 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0000509 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0000952 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0001250 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0001622 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0001892 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0002014 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0002094 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0002829 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0003418 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0031273 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0100520 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99824 Lassa fever HP:0100806 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000175 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000204 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000252 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000322 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000411 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000541 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000567 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000568 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000588 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000639 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000648 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000823 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000826 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000892 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000902 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0000921 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0001000 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0001012 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0001252 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0001257 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0001276 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0001302 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0001338 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0001357 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0001385 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0002019 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0002020 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0002024 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0002036 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0002119 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0002126 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0002342 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0002353 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0002650 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0002884 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0003305 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0003316 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0004374 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0005338 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0005815 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0007360 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0007703 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0008872 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0010759 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0010864 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0011343 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0011344 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0012469 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0200008 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50 Aicardi syndrome HP:0200055 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0000751 ORPHA:99825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0001250 ORPHA:99825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0001259 ORPHA:99825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0001336 ORPHA:99825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0001337 ORPHA:99825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0001945 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0002017 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0002039 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0002098 ORPHA:99825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0002315 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0002321 ORPHA:99825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0002383 ORPHA:99825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0002615 ORPHA:99825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0003326 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0012378 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0012735 ORPHA:99825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99825 Nipah virus disease HP:0100776 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0009709 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0009710 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0012444 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0030356 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000054 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000369 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000496 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000501 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000508 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000639 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000819 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000821 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000965 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001063 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001087 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001337 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001357 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001369 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001609 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001640 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002313 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002315 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002510 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002650 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001257 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001263 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001276 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002132 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002139 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002187 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0007052 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000252 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000625 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000737 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000958 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001250 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001332 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001433 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001955 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002071 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002079 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002119 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002355 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002371 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002376 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002415 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002514 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002910 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002960 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0000444 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0004322 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0004374 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0007076 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0008936 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0009704 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0002828 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0003552 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0004809 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0006579 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0007108 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0007256 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0012490 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0030880 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0001639 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0004942 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0004963 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0005550 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0011834 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0030038 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0040140 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0100578 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51 Aicardi-Goutières syndrome HP:0100614 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002716 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002829 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002900 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002910 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0003073 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0003128 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0003236 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0003256 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0003259 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0003418 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0003645 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0008151 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0011029 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0011151 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0011896 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0012534 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0025085 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0030139 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0031246 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0031273 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0040186 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0410288 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0000554 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0000709 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001882 ORPHA:99826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001888 ORPHA:99826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0010702 ORPHA:99826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0020071 ORPHA:99826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0030005 ORPHA:99826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001892 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001923 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001945 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002013 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002014 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002027 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002039 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002315 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0003326 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0004332 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0012137 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0025143 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0030953 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0032043 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0032169 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0410257 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0000083 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0000718 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0000967 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0000978 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0000988 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001250 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001254 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001259 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001289 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001649 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001662 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001873 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001943 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001944 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002018 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002045 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002329 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002615 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0000952 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001369 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001701 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001733 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0001987 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0002480 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0004360 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0005521 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0011024 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0011106 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99826 Marburg hemorrhagic fever HP:0100796 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001639 ORPHA:444013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0003128 ORPHA:444013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0000707 ORPHA:444013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0008947 ORPHA:444013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0000505 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0000961 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001250 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001256 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001263 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001508 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001635 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001667 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001712 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001716 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0002415 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0002878 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0003388 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0008347 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0008872 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0010307 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0011923 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0012666 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0012696 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0012747 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0012751 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0012763 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0100543 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0000978 ORPHA:177926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0003125 ORPHA:177926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0000132 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0000421 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0001892 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0004846 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0006298 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0011890 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0011891 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0003645 ORPHA:177926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0005261 ORPHA:177926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0007420 ORPHA:177926 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000248 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000272 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000368 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000370 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000405 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000413 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000463 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000486 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000772 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000776 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0000921 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0001249 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0001252 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0001537 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0001545 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0001629 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0002007 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0002093 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0002650 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0003272 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0004322 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0004349 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0005692 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0007477 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0009623 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1488 Cooper-Jabs syndrome HP:0100490 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1487 Cooks syndrome HP:0001156 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1487 Cooks syndrome HP:0001171 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1487 Cooks syndrome HP:0001199 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1487 Cooks syndrome HP:0001810 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1487 Cooks syndrome HP:0008388 ORPHA:1487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1487 Cooks syndrome HP:0008391 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1487 Cooks syndrome HP:0010624 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1487 Cooks syndrome HP:0011304 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0001892 ORPHA:329971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0001903 ORPHA:329971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0002573 ORPHA:329971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0001017 ORPHA:329971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0001510 ORPHA:329971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0000969 ORPHA:329971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0005227 ORPHA:329971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0004394 ORPHA:329971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0030256 ORPHA:329971 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0100896 ORPHA:329971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0004783 ORPHA:329971 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000316 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000347 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000368 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000465 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000470 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000772 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0001376 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0001561 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0002089 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0002757 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0003100 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0003103 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0003202 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0003272 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0003312 ORPHA:1486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0004322 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0009775 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0009811 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0000175 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0000632 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0000966 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0001263 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0001376 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0002804 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0100335 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0100543 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:477781 Primary condylar hyperplasia HP:3000077 ORPHA:477781 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:477781 Primary condylar hyperplasia HP:0000306 ORPHA:477781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477781 Primary condylar hyperplasia HP:0000324 ORPHA:477781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477781 Primary condylar hyperplasia HP:0009102 ORPHA:477781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477781 Primary condylar hyperplasia HP:0010754 ORPHA:477781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477781 Primary condylar hyperplasia HP:0001572 ORPHA:477781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0000958 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0000988 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0000989 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0000992 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001029 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001252 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001260 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001324 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001369 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001376 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001596 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001609 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001618 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001638 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001681 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001701 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001824 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0001945 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0002015 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0002019 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0002027 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0002091 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0002094 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0002206 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0002239 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0002633 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0002829 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0002960 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0003236 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0003326 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0003394 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0003457 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0003565 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0003761 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0010783 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0011227 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0011675 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0011710 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0012378 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0012735 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0100540 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0100579 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0100585 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0100614 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93672 Juvenile dermatomyositis HP:0200042 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0000365 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0000529 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0001249 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0001263 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002123 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002133 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002151 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002273 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002376 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002500 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002506 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0003200 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0008347 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0011923 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0011924 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0031165 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0200134 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0000729 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0001344 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0001790 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002015 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002079 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0004305 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0007351 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0010853 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0012531 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0025517 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0040288 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0100275 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329967 Intermittent hydrarthrosis HP:0001386 ORPHA:329967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329967 Intermittent hydrarthrosis HP:0002829 ORPHA:329967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329967 Intermittent hydrarthrosis HP:0002815 ORPHA:329967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329967 Intermittent hydrarthrosis HP:0045086 ORPHA:329967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329967 Intermittent hydrarthrosis HP:0000934 ORPHA:329967 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000003 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000076 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000083 ORPHA:1475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000089 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000110 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000365 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000480 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000486 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000505 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000545 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000588 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0000639 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0001093 ORPHA:1475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1475 Renal coloboma syndrome HP:0005692 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000407 ORPHA:1473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000486 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000501 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000505 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000508 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000518 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000541 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000567 ORPHA:1473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000568 ORPHA:1473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000612 ORPHA:1473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000627 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000639 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000648 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000790 ORPHA:1473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0001249 ORPHA:1473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0002744 ORPHA:1473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0007957 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0000104 ORPHA:1471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0000567 ORPHA:1471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0001817 ORPHA:1471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0004322 ORPHA:1471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0005831 ORPHA:1471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0009882 ORPHA:1471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0011304 ORPHA:1471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0100490 ORPHA:1471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0100798 ORPHA:1471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1479 Atrial septal defect-atrioventricular conduction defects syndrome HP:0001671 ORPHA:1479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1479 Atrial septal defect-atrioventricular conduction defects syndrome HP:0011675 ORPHA:1479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1479 Atrial septal defect-atrioventricular conduction defects syndrome HP:0011710 ORPHA:1479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012412 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012650 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0025160 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0030339 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0031507 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0100716 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0200055 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000938 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000939 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001250 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001256 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001263 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001385 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001518 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001558 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001999 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002342 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002578 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002714 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002870 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002871 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0006889 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0010741 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0010829 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0031100 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0031169 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0100739 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000826 ORPHA:177904 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000028 ORPHA:177904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001513 ORPHA:177904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002119 ORPHA:177904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002591 ORPHA:177904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0008872 ORPHA:177904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000044 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000046 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000060 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000064 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000486 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000504 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000708 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000709 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000717 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000729 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000786 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000789 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000819 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000823 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000824 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001010 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001252 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001328 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001508 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001773 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002205 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002360 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002650 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0003241 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0004322 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0005599 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0007730 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0007874 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0008734 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0008770 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0009088 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0010627 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0011734 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0011787 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012104 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012105 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012166 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012411 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000028 ORPHA:177901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001513 ORPHA:177901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002119 ORPHA:177901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0008872 ORPHA:177901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000044 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000046 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000060 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000064 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000486 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000504 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000708 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000709 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000717 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000729 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000786 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000789 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000819 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000823 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000824 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001010 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001252 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001263 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001328 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001508 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001773 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002205 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002342 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002360 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002591 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002650 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0003241 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0004322 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0005599 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0007730 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0007874 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0008734 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0008770 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0009088 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0010627 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0011734 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0011787 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012104 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012105 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012166 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012411 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012412 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012650 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0025160 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0030339 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0031507 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0100716 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0100739 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0200055 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000219 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000938 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000939 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001250 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001256 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001385 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001518 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001558 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002578 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002714 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002870 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002871 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0006889 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0010741 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0010829 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0031100 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0031169 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000826 ORPHA:177901 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0000303 ORPHA:2790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0000407 ORPHA:2790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0000639 ORPHA:2790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0000772 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0003103 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0003312 ORPHA:2790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0004493 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0005019 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0005789 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0010628 ORPHA:2790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0100789 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0100861 ORPHA:2790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2790 Endosteal hyperostosis, Worth type HP:0100923 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0001896 ORPHA:300298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0001903 ORPHA:300298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0003281 ORPHA:300298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0012464 ORPHA:300298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000027 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000135 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000864 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000980 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0002910 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0003452 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0004823 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0012378 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0012465 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0025066 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000821 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000846 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000957 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0001433 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0001510 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0012134 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0000360 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0000491 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0000613 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0001751 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0002321 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0007663 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0000407 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0001894 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0001903 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0001974 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0003565 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0100533 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0000509 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0000554 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0000618 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0001659 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0002633 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0005310 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0100532 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1467 Cogan syndrome HP:0100534 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000135 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000232 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000252 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000347 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000407 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000431 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000470 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000505 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000518 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000568 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000648 ORPHA:1466 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0000992 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0001250 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0001252 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0001276 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0001315 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0001387 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0001511 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0001522 ORPHA:1466 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0001883 ORPHA:1466 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0002120 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0002514 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0002804 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0004322 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0005105 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0005487 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0007360 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0007703 ORPHA:1466 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0008872 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0009830 ORPHA:1466 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0010978 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0011344 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1466 COFS syndrome HP:0100490 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000154 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000179 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000280 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000574 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000998 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001792 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0011231 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0011968 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000028 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000119 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000219 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000289 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000294 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000365 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000455 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000463 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000486 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000505 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000508 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000684 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000708 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001007 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001250 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001388 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001510 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001627 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001999 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0002209 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0002342 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0002650 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0002719 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0002750 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0002788 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0003196 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0005280 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0008398 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0008897 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0008947 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0009237 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0009928 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0010864 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0011937 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0011951 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0012810 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0030084 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000047 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000085 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000545 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000718 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000729 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000752 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001274 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001305 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001344 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001629 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001631 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001636 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001643 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0009879 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0012523 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0100790 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0000252 ORPHA:1465 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0001511 ORPHA:1465 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0002884 ORPHA:1465 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1465 Coffin-Siris syndrome HP:0002895 ORPHA:1465 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0000765 ORPHA:1461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0000961 ORPHA:1461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0001629 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0001633 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0001642 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0001669 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0001718 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0001999 ORPHA:1461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0002093 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0030680 ORPHA:1461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0004381 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0010446 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1461 Criss-cross heart HP:0011968 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001249 ORPHA:324262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001347 ORPHA:324262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0002066 ORPHA:324262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0003698 ORPHA:324262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0000565 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0000571 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001310 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0002075 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0002167 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0002406 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0004302 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0011347 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0000508 ORPHA:324262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001250 ORPHA:324262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001271 ORPHA:324262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001344 ORPHA:324262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0007979 ORPHA:324262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000408 ORPHA:2791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000670 ORPHA:2791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0006479 ORPHA:2791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0011070 ORPHA:2791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0011078 ORPHA:2791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000212 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000276 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000293 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000326 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000343 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000463 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000679 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000682 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000684 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000704 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0001757 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0003771 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0011051 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000480 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000482 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000518 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000568 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0000612 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0011068 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0031353 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2791 Otodental syndrome HP:0100719 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0000218 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0000293 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0000324 ORPHA:2792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0000400 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0000405 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0000411 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0000413 ORPHA:2792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0000463 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0000889 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0001249 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0001263 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0001276 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0001347 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0002167 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0002750 ORPHA:2792 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0003691 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0004322 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0004467 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0005280 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0007477 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0008678 ORPHA:2792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0009738 ORPHA:2792 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2792 Otofaciocervical syndrome HP:0200021 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0000268 ORPHA:2793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0000400 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0000582 ORPHA:2793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0000940 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0001256 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0001371 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0001597 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0006380 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0008577 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0009738 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0009756 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0009906 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2793 Otoonychoperoneal syndrome HP:0011039 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0012119 ORPHA:464453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0000739 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0000961 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0001289 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0001941 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0001962 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0002013 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0002094 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0002315 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0002321 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0012378 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0012418 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0001259 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0001279 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0001649 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0002027 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0002329 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0007185 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0011675 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0001250 ORPHA:464453 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464453 Acquired methemoglobinemia HP:0002098 ORPHA:464453 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000147 ORPHA:2795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000795 ORPHA:2795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0003457 ORPHA:2795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0100518 ORPHA:2795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000016 ORPHA:2795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000876 ORPHA:2795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0001007 ORPHA:2795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0001061 ORPHA:2795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000020 ORPHA:2795 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000132 ORPHA:2795 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000137 ORPHA:2795 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000141 ORPHA:2795 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0000280 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0000508 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0000771 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0000845 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0000939 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0000969 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0000975 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0000976 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0000982 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0001051 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0001061 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0001072 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0001231 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0001369 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0001376 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0001386 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0001744 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0001903 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0002024 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0002239 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0002240 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0002650 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0002653 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0002754 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0002797 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0002829 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0002970 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0003103 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0004398 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0005561 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0005930 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0008069 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0010541 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0010720 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0010829 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0010885 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0011362 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0100021 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0100526 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0100760 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2796 Pachydermoperiostosis HP:0200055 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2798 Pachygyria-intellectual disability-epilepsy syndrome HP:0001250 ORPHA:2798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2798 Pachygyria-intellectual disability-epilepsy syndrome HP:0001263 ORPHA:2798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2798 Pachygyria-intellectual disability-epilepsy syndrome HP:0001622 ORPHA:2798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2798 Pachygyria-intellectual disability-epilepsy syndrome HP:0010864 ORPHA:2798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0000708 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001263 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001319 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001513 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001558 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001773 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001999 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0002591 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0004322 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0008872 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0200055 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0004039 ORPHA:177910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0004283 ORPHA:177910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0000044 ORPHA:177910 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001010 ORPHA:177910 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0003241 ORPHA:177910 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0005599 ORPHA:177910 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0007730 ORPHA:177910 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0010818 ORPHA:505652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0000232 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0000337 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0000490 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0000748 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0000817 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0001288 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0001510 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0002002 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0002194 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0002355 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0002421 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0003763 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0003808 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0006979 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0007328 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0007359 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0009852 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0010841 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0011220 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0011343 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0011344 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0012171 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0012469 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0012471 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0000341 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0000348 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0000664 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0001822 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0002650 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0002795 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505652 CDKL5-deficiency disorder HP:0002808 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000253 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001118 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001249 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001250 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001263 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001285 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001510 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001999 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0004322 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000219 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000316 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000319 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000343 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000400 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000508 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001272 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001305 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0002540 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0002553 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0003196 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0003698 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0005280 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000939 ORPHA:2788 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002659 ORPHA:2788 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000541 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000938 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0001141 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0001388 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002515 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0003016 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0004327 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0006367 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002505 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0007875 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0007898 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0007957 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0008947 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0012052 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0012109 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0030490 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0040069 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000568 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000750 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0001263 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002007 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002194 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002645 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0003366 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0004322 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0006934 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0030551 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000384 ORPHA:2788 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000592 ORPHA:2788 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0008236 ORPHA:2788 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0030515 ORPHA:2788 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0030680 ORPHA:2788 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1455 Autosomal dominant coarctation of aorta HP:0001629 ORPHA:1455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1455 Autosomal dominant coarctation of aorta HP:0001643 ORPHA:1455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1455 Autosomal dominant coarctation of aorta HP:0004383 ORPHA:1455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1455 Autosomal dominant coarctation of aorta HP:0005113 ORPHA:1455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1455 Autosomal dominant coarctation of aorta HP:0012303 ORPHA:1455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000268 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000272 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000275 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000347 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000358 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000369 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000405 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000413 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000494 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000508 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0002435 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0002645 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0002705 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0100775 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000023 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000319 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000470 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000678 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000767 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0001537 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0002162 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0002650 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0003312 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0004452 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0004493 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0005487 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0005692 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000028 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000218 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000286 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000316 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000407 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000520 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0000612 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0001252 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0001263 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0001629 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0002308 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0002808 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0003307 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2789 Lateral meningocele syndrome HP:0003396 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000003 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000023 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000083 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000112 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000202 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000238 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000256 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000276 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000369 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000426 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000463 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000486 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000505 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000508 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000567 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000588 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000612 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000639 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000657 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0000864 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001162 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001250 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001251 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001252 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001288 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001320 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001337 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001347 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001394 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001409 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0001744 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002085 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002104 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002240 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002269 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002342 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002553 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002612 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002650 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002793 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002896 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0002910 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0004422 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0005248 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0007360 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0007370 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0008872 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1454 Joubert syndrome with hepatic defect HP:0100626 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1453 Cleidorhizomelic syndrome HP:0000889 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1453 Cleidorhizomelic syndrome HP:0001156 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1453 Cleidorhizomelic syndrome HP:0004209 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1453 Cleidorhizomelic syndrome HP:0004220 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1453 Cleidorhizomelic syndrome HP:0005019 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1453 Cleidorhizomelic syndrome HP:0007598 ORPHA:1453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1453 Cleidorhizomelic syndrome HP:0008905 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000162 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000164 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000175 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000239 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000246 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000248 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000256 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000303 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000316 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000337 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000340 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000347 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000364 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000365 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000389 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000670 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000682 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000684 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000772 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000774 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000882 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000894 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0000939 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0001156 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0005916 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0001172 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0001182 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0001810 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0002007 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0002205 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0002644 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0002645 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0002650 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0002652 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0002705 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0002757 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0002812 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0002857 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0003298 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0004209 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0004322 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0004331 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0005107 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0005280 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0005930 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0008391 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0008821 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0010535 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0010669 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0010751 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0010807 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0011069 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0011219 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0011800 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1452 Cleidocranial dysplasia HP:0200021 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0000256 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0000365 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0000407 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0000505 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0000520 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0000538 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0000554 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0000618 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0000969 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0000979 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001025 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001156 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001249 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001263 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001287 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001367 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001373 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001476 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001510 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001622 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001744 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001872 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001874 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001903 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001911 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001945 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0001974 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0002007 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0002017 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0002076 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0002240 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0002353 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0002516 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0002652 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0002716 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0002829 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0003326 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0003565 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0004349 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0011227 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0012378 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0100533 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0100654 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1451 CINCA syndrome HP:0200034 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0000069 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0000126 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0000174 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0000286 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0000340 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0000348 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0000463 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0001249 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0001561 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0002007 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0002162 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0003196 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0004097 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1450 Ring chromosome 8 syndrome HP:0100830 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0001263 ORPHA:79350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0002342 ORPHA:79350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0008897 ORPHA:79350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0011968 ORPHA:79350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0012279 ORPHA:79350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000047 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000154 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000252 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000293 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000337 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000341 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000347 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0001276 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0001999 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0002020 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0002069 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0100540 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0100633 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000944 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002684 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0005465 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0008808 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0008818 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0011001 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0011002 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0100670 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000175 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000176 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000193 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000239 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000256 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000270 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000405 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000431 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000684 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002007 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002650 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002705 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0005469 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0011220 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000248 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000278 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000286 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000347 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000358 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000369 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000518 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001249 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001263 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001328 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001555 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001650 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001680 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002300 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002381 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002381 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002514 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0003298 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0003307 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0003510 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0010529 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0010628 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0012368 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0012277 ORPHA:79351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0012279 ORPHA:79351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000252 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000565 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001257 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001508 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001511 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002013 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0004322 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0006808 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0007281 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0011097 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0011344 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0011451 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0011968 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0012448 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0012762 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000023 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000135 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000519 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000708 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000737 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001181 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001276 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0006872 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001537 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001889 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001999 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002020 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002069 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002079 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002119 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002121 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002123 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002305 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002510 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002536 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0007503 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0010719 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0010819 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0010821 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0011343 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0030215 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0100633 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0100704 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464440 Primary dystonia, DYT27 type HP:0012048 ORPHA:464440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464440 Primary dystonia, DYT27 type HP:0012049 ORPHA:464440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464440 Primary dystonia, DYT27 type HP:0002345 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464440 Primary dystonia, DYT27 type HP:0002356 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464440 Primary dystonia, DYT27 type HP:0002451 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464440 Primary dystonia, DYT27 type HP:0002530 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464440 Primary dystonia, DYT27 type HP:0004373 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464440 Primary dystonia, DYT27 type HP:0007351 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001513 ORPHA:177907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001612 ORPHA:177907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002033 ORPHA:177907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0008872 ORPHA:177907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000044 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000219 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000341 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000824 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001256 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001319 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001773 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001999 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002098 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002205 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002714 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0003241 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0004322 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0006829 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0007874 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0010627 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0025160 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0200055 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000077 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000154 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000175 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000193 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000218 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000232 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000252 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000278 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000316 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000347 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000384 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000446 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000448 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000455 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000463 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000470 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000486 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000490 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000520 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000540 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000545 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000582 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000601 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000670 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000708 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000722 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000733 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000735 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000739 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000750 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000953 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001010 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001156 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001250 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001263 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001265 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001344 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001347 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001511 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001562 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001611 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001627 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001643 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001655 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001763 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001776 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001845 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002120 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002650 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0003196 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0004209 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0005469 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0005599 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0006347 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0006956 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0007018 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0007730 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0009085 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0010801 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0010864 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0011470 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0012166 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0012168 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0012433 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0012704 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0012775 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0030084 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0040025 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0040082 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0100704 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177907 Prader-Willi syndrome due to translocation HP:0200096 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001947 ORPHA:2785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0011002 ORPHA:2785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0012379 ORPHA:2785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000164 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001293 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001999 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002049 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002135 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002514 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002757 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002901 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0003148 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0003236 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0004322 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0008341 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001263 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000126 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000160 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000179 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000218 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000248 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000278 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000347 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000400 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000479 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000592 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000648 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000692 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000767 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000787 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000867 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001105 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001249 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001328 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001357 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001508 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001562 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001873 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001876 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001882 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001903 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002240 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002518 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002684 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0004445 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0005461 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0005528 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0006335 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0006641 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0006824 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0010864 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0011220 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0012370 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0030812 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000405 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001942 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002092 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002273 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002870 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0012181 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000072 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000286 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000396 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000407 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000463 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000486 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000508 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000518 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000639 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000682 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0000684 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0001156 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0001252 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0001263 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0001374 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0001600 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0001629 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0002644 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0002650 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0002750 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0003196 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0003312 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0003417 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0004122 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0004322 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0005242 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0005280 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0005692 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0005930 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0006482 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0009901 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0010049 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1458 CODAS syndrome HP:0012368 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79357 Hereditary palmoplantar keratoderma HP:0000982 ORPHA:79357 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79357 Hereditary palmoplantar keratoderma HP:0009775 ORPHA:79357 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000479 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000505 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000545 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000639 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000926 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000939 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000980 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0001010 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0001022 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0002808 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0004322 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0005599 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0000252 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0000618 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0000648 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0000939 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0001156 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0001249 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0002007 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0002645 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0005692 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0009882 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79358 Porokeratosis HP:0000962 ORPHA:79358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79358 Porokeratosis HP:0000989 ORPHA:79358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79358 Porokeratosis HP:0000992 ORPHA:79358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79358 Porokeratosis HP:0001000 ORPHA:79358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79358 Porokeratosis HP:0004334 ORPHA:79358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79358 Porokeratosis HP:0006739 ORPHA:79358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0012305 ORPHA:1457 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0011103 ORPHA:1457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0001640 ORPHA:1457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0001647 ORPHA:1457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0001677 ORPHA:1457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0004383 ORPHA:1457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0000822 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0001635 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0001643 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0005301 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0011682 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0012304 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0001297 ORPHA:1457 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0001636 ORPHA:1457 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0002092 ORPHA:1457 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0010883 ORPHA:1457 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0005295 ORPHA:1457 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1457 Aorta coarctation HP:0011611 ORPHA:1457 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0000118 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0000837 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0008669 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0008734 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0011961 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0012205 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0012864 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0012868 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0004348 ORPHA:210110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0002659 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0002757 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0003418 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0004618 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0004975 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0005652 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0005746 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0005789 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0000707 ORPHA:210110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0001903 ORPHA:210110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0003155 ORPHA:210110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0000164 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0000505 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0000689 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0001293 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0001433 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0002754 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0006482 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0007958 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0031035 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0001873 ORPHA:210110 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:210110 Intermediate osteopetrosis HP:0002901 ORPHA:210110 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000219 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000232 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000272 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000316 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000343 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000347 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000369 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000445 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000664 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000924 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0001007 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0001252 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0001256 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0001263 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0001999 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0003022 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0004325 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0005469 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0008551 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0009928 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0030084 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000337 ORPHA:357175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000494 ORPHA:357175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0002342 ORPHA:357175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0010864 ORPHA:357175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2777 Osteomesopyknosis HP:0001939 ORPHA:2777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2777 Osteomesopyknosis HP:0002650 ORPHA:2777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2777 Osteomesopyknosis HP:0002808 ORPHA:2777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2777 Osteomesopyknosis HP:0003103 ORPHA:2777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2777 Osteomesopyknosis HP:0003312 ORPHA:2777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2777 Osteomesopyknosis HP:0011001 ORPHA:2777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2777 Osteomesopyknosis HP:0100861 ORPHA:2777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0001999 ORPHA:1445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0000141 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0000252 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0000789 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0001249 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0001250 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0002353 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0001263 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0000027 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0000750 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0000765 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0000873 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0000992 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0001159 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0001257 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0001288 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0001360 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0001627 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0002123 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0002650 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0004283 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0004313 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0004322 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0007565 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0008467 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0011171 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0025190 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0030039 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0030084 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1445 Ring chromosome 21 syndrome HP:0200055 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0000940 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0000944 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0002211 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0002644 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0007412 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0010740 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0100670 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000294 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000455 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000463 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000506 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000629 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000817 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0001249 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002079 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002465 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0010818 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0010841 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0012105 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0012110 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0100704 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000232 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000322 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000341 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000414 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000426 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000527 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000528 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000574 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000664 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000733 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0001252 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0001336 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002121 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002384 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002521 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002540 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0009748 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0009904 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0010819 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0012469 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0012471 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0040159 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0000238 ORPHA:2770 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0000657 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0000708 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0000727 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0000734 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0000737 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0000751 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0001250 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0001257 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0001376 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002072 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002119 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002120 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002167 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002354 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002376 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002488 ORPHA:2770 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002514 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002652 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002653 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0002829 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0004349 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0005930 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0009124 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0010524 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0012062 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0012719 ORPHA:2770 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2770 Nasu-Hakola disease HP:0100022 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0000325 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0000926 ORPHA:2771 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0000939 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0001059 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0001387 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0001762 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0002093 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0002645 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0002650 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0002757 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0002804 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0002808 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0004322 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2771 Bruck syndrome HP:0006487 ORPHA:2771 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000028 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000062 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000252 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000316 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000368 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000518 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000592 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000772 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0001195 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0001511 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0001629 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0002119 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0002269 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0002757 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0002983 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0004383 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0005474 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0005692 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0007360 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0008736 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0008873 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0000478 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0000504 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0000648 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0001249 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0001250 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0002645 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0002757 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0011344 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000047 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000135 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000160 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000233 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000248 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000252 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000271 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000272 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000286 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000294 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000322 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000385 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000426 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000431 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000494 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000601 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000932 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0001270 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0001488 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0002120 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0002553 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0004322 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0004425 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0007687 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0008846 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0009088 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0009899 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0011344 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0012368 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0001000 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0001238 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0002119 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0003196 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0009933 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0030148 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000034 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000175 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000303 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000329 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000463 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000486 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000565 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000954 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000957 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0001317 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0002857 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0002861 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0004619 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0007481 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0200055 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0000193 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0001357 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0001360 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0001696 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0004209 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0009099 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0009237 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1449 Ring chromosome 7 syndrome HP:0009779 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0000252 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0000286 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0000316 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0000400 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0000431 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0000470 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0002093 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0002162 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0004322 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0009882 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1448 Ring chromosome 6 syndrome HP:0100589 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000093 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000112 ORPHA:2774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000325 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000347 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000431 ORPHA:2774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000506 ORPHA:2774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000520 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001225 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001288 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001376 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001495 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001504 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001561 ORPHA:2774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0002714 ORPHA:2774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0002797 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0003019 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0003100 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0003457 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0004326 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0005930 ORPHA:2774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0100490 ORPHA:2774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1447 Ring chromosome 4 syndrome HP:0001171 ORPHA:1447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1447 Ring chromosome 4 syndrome HP:0002817 ORPHA:1447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1447 Ring chromosome 4 syndrome HP:0040071 ORPHA:1447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1447 Ring chromosome 4 syndrome HP:0006501 ORPHA:1447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0000164 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0000327 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0000455 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0000520 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0001256 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0002797 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0004322 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0009882 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0011800 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000027 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000252 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000268 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000276 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000286 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000293 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000307 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000400 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000414 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000574 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000719 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000729 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000750 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0000969 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0001004 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0001067 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0001176 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0001250 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0001263 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0001290 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0001510 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0002066 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0002376 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0004691 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0007328 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0010808 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0011800 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0012471 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0012810 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0100797 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0001274 ORPHA:1446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0001331 ORPHA:1446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1446 Ring chromosome 22 syndrome HP:0002202 ORPHA:1446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0000028 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0000077 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0000256 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0000316 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0000356 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0000750 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0000924 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0001263 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0001270 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0001627 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314034 7p22.1 microduplication syndrome HP:0001999 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000219 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000028 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000252 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000303 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0001250 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0001252 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0001999 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0002020 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0002719 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0008850 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000047 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000407 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000411 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000678 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000954 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0001182 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0001601 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0004415 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0006101 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0006380 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0006466 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0009796 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0012033 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0012385 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0100716 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46487 Epidermolysis bullosa acquisita HP:0000819 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46487 Epidermolysis bullosa acquisita HP:0000953 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46487 Epidermolysis bullosa acquisita HP:0000987 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46487 Epidermolysis bullosa acquisita HP:0000989 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46487 Epidermolysis bullosa acquisita HP:0001056 ORPHA:46487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46487 Epidermolysis bullosa acquisita HP:0001595 ORPHA:46487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46487 Epidermolysis bullosa acquisita HP:0002027 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46487 Epidermolysis bullosa acquisita HP:0002037 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46487 Epidermolysis bullosa acquisita HP:0008066 ORPHA:46487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46487 Epidermolysis bullosa acquisita HP:0008404 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0001249 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0001410 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0001999 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0002079 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0002361 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0002506 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0002510 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0003256 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0005484 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0010818 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0010837 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0011967 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435934 COG2-CDG HP:0012506 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46488 Linear IgA dermatosis HP:0000155 ORPHA:46488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46488 Linear IgA dermatosis HP:0000421 ORPHA:46488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46488 Linear IgA dermatosis HP:0000989 ORPHA:46488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46488 Linear IgA dermatosis HP:0002037 ORPHA:46488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46488 Linear IgA dermatosis HP:0002960 ORPHA:46488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46488 Linear IgA dermatosis HP:0008066 ORPHA:46488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46488 Linear IgA dermatosis HP:0009725 ORPHA:46488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46488 Linear IgA dermatosis HP:0009726 ORPHA:46488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46488 Linear IgA dermatosis HP:0200034 ORPHA:46488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46486 Mucous membrane pemphigoid HP:0000230 ORPHA:46486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46486 Mucous membrane pemphigoid HP:0000618 ORPHA:46486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46486 Mucous membrane pemphigoid HP:0000987 ORPHA:46486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46486 Mucous membrane pemphigoid HP:0002960 ORPHA:46486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46486 Mucous membrane pemphigoid HP:0007957 ORPHA:46486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46486 Mucous membrane pemphigoid HP:0008066 ORPHA:46486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46486 Mucous membrane pemphigoid HP:0200097 ORPHA:46486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0000505 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0001231 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0002213 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0002558 ORPHA:1433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0006101 ORPHA:1433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0007703 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0008070 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0008388 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0100804 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0200102 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2768 Blount disease HP:0002982 ORPHA:2768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2768 Blount disease HP:0002815 ORPHA:2768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2768 Blount disease HP:0006491 ORPHA:2768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2768 Blount disease HP:0010591 ORPHA:2768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2768 Blount disease HP:0040188 ORPHA:2768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000272 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000303 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000307 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000309 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000363 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000414 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000448 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000457 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000574 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000692 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000822 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0002149 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0002650 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0002659 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0002757 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0002808 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0003103 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0003189 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0005613 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0006352 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0006660 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0009748 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0010443 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0010668 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000670 ORPHA:2769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000772 ORPHA:2769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000921 ORPHA:2769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0003312 ORPHA:2769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0004209 ORPHA:2769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0001250 ORPHA:2769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2769 Familial osteodysplasia, Anderson type HP:0003042 ORPHA:2769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0008207 ORPHA:95409 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0008163 ORPHA:95409 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0000953 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001324 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001508 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001824 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002014 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002017 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002019 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002027 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002039 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002615 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002960 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0003154 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0011106 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0012378 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0000083 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0000127 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0000848 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001250 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001252 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001278 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001897 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001943 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002149 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002153 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002902 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0004319 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0005976 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0008226 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0011948 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0012364 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0000823 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0000835 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0000958 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001045 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001297 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0001658 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002215 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002321 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0002829 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0003072 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0030018 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95409 Acute adrenal insufficiency HP:0030083 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2760 OSLAM syndrome HP:0000670 ORPHA:2760 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2760 OSLAM syndrome HP:0001874 ORPHA:2760 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2760 OSLAM syndrome HP:0002669 ORPHA:2760 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2760 OSLAM syndrome HP:0002974 ORPHA:2760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2760 OSLAM syndrome HP:0004209 ORPHA:2760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2760 OSLAM syndrome HP:0004322 ORPHA:2760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2760 OSLAM syndrome HP:0005518 ORPHA:2760 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0001263 ORPHA:1439 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0001510 ORPHA:1439 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0001999 ORPHA:1439 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0000252 ORPHA:1439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0007477 ORPHA:1439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0030084 ORPHA:1439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0000028 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0000131 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0000369 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0000465 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0000565 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0000767 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0000807 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0000821 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0001007 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0001028 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0001061 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0001159 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0001518 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0001684 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0001810 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0002705 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0002938 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0003187 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0004207 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0008551 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1439 Ring chromosome 12 syndrome HP:0009656 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0000233 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0000316 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0000343 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0000347 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0000369 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0000431 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0000470 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0000494 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0000568 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0000767 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0001182 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0001249 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0001250 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0001252 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0001511 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0001852 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0002007 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0002251 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0002901 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0004326 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0006610 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0008678 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0009738 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1438 Ring chromosome 10 syndrome HP:0009748 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0000828 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0001034 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0001156 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0001376 ORPHA:2762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0001482 ORPHA:2762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0002653 ORPHA:2762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0002758 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0010766 ORPHA:2762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0011987 ORPHA:2762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0012733 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0100242 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2762 Progressive osseous heteroplasia HP:0200034 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0000252 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0000311 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0000343 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0000431 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0000463 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0000494 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0000506 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0000508 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0002714 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0004209 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0008872 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0010720 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1437 Ring chromosome 1 syndrome HP:0100543 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0000027 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0000118 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0000837 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0008669 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0008734 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0011961 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0011962 ORPHA:399805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0001156 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0002023 ORPHA:1436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0002650 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0002949 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0004322 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0005107 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0005819 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0005978 ORPHA:1436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0008467 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0001376 ORPHA:2764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0001386 ORPHA:2764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0001387 ORPHA:2764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0002815 ORPHA:2764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0002829 ORPHA:2764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0001367 ORPHA:2764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0001377 ORPHA:2764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0003184 ORPHA:2764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0006376 ORPHA:2764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0011843 ORPHA:2764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0001288 ORPHA:2764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0002992 ORPHA:2764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2764 Osteochondritis dissecans HP:0009050 ORPHA:2764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000407 ORPHA:1435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000532 ORPHA:1435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0001139 ORPHA:1435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0200065 ORPHA:1435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000375 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000381 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000405 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000648 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000824 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000830 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0001251 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0001256 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0001263 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0001347 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0001510 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0001513 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0002066 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0002750 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0004458 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0005109 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0007663 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0007675 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0007937 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0007994 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0008245 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0008619 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0008897 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0011448 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0030532 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000486 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000639 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000822 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0001250 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0001920 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0002075 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0003484 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0000863 ORPHA:1435 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0010625 ORPHA:1435 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1435 Xq21 microdeletion syndrome HP:0011748 ORPHA:1435 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0001409 ORPHA:210136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0001433 ORPHA:210136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0002206 ORPHA:210136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0005528 ORPHA:210136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0011954 ORPHA:210136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0001873 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0002094 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0002091 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0002910 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0003281 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0006707 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0012735 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0030830 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0001685 ORPHA:210136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0002103 ORPHA:210136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0030829 ORPHA:210136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30925 Hereditary central diabetes insipidus HP:0000737 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30925 Hereditary central diabetes insipidus HP:0000873 ORPHA:30925 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:30925 Hereditary central diabetes insipidus HP:0001254 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30925 Hereditary central diabetes insipidus HP:0001510 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30925 Hereditary central diabetes insipidus HP:0001824 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30925 Hereditary central diabetes insipidus HP:0001945 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30925 Hereditary central diabetes insipidus HP:0001959 ORPHA:30925 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:30925 Hereditary central diabetes insipidus HP:0002013 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30925 Hereditary central diabetes insipidus HP:0002014 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0000774 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0003026 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0003950 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0005616 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0005789 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0009826 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0000347 ORPHA:1423 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0001561 ORPHA:1423 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0000158 ORPHA:1423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0000969 ORPHA:1423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0002098 ORPHA:1423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1423 Lethal recessive chondrodysplasia HP:0002983 ORPHA:1423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000037 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000252 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000400 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000486 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000490 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000506 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000567 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000581 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000616 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000774 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0001249 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0006872 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0001511 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0002644 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0002983 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0003043 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0003510 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0004330 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0005622 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0007676 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0009803 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0010049 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000185 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000191 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000278 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000343 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000347 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000470 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000506 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0001440 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0001831 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0002990 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0004987 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0005011 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0005280 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0005736 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0005873 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0006114 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0006434 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0008368 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0008386 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0009280 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0009486 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0009942 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0012165 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0012368 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0012428 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2756 Orofaciodigital syndrome type 10 HP:0100258 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000478 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000601 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001508 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001510 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002033 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0004322 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0011968 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000161 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000175 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000193 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000218 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000252 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000407 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000457 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000708 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000716 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000737 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000739 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000741 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001249 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001250 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001254 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001257 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001328 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001344 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002013 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002015 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002019 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002020 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002270 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002363 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002451 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002540 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002793 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002871 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0005968 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0006528 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0006979 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0007018 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0007301 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0008947 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0010654 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0011442 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0011951 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0012285 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0040327 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0045005 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0100704 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000119 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000238 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000256 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000818 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000824 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000871 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000873 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0000924 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001274 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001371 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0001627 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002465 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002650 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0002827 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0006315 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0009062 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0009914 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0009932 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0011471 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0011787 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0012718 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0012806 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0031860 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220386 Semilobar holoprosencephaly HP:0040064 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000153 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000159 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000288 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000358 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000369 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000600 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000772 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000921 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0002094 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0002098 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0002205 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0002878 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0002937 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0003312 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000286 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000396 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000431 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000453 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000494 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0001166 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0001561 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0001622 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0004209 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0005692 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0009896 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0010295 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0011302 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36237 Bullous impetigo HP:0003095 ORPHA:36237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36237 Bullous impetigo HP:0005406 ORPHA:36237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36237 Bullous impetigo HP:0008066 ORPHA:36237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36237 Bullous impetigo HP:0010783 ORPHA:36237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36237 Bullous impetigo HP:0100763 ORPHA:36237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36237 Bullous impetigo HP:0100806 ORPHA:36237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36237 Bullous impetigo HP:0100820 ORPHA:36237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36237 Bullous impetigo HP:0200039 ORPHA:36237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0012418 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0031246 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0031864 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0032177 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0032308 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0100749 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0001254 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0001289 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0001882 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002105 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002107 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002113 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002721 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0025144 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0025419 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0025439 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0031273 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0032016 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0100758 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0100806 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0000819 ORPHA:36238 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0030955 ORPHA:36238 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0001945 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0001974 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002090 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002094 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002098 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002789 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0003565 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0012735 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0032169 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002202 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002615 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002878 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0011227 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0011897 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0011919 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0011949 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1429 Benign hereditary chorea HP:0001288 ORPHA:1429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1429 Benign hereditary chorea HP:0100022 ORPHA:1429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000161 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000180 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000187 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000191 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000218 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000271 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000316 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000431 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0002007 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000164 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000175 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000199 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000324 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000430 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000494 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000668 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000929 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001161 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001249 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001250 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001251 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001829 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001831 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0004097 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0004209 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0004349 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0006101 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0010579 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0011802 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000003 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000083 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000093 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000126 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000286 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000347 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000365 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000389 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000453 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000506 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000682 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000822 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000924 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000958 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001056 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001156 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001162 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001177 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001274 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001305 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001332 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001337 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001596 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001732 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001737 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001738 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0002208 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0002299 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0002617 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0002910 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0008070 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0008368 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0010669 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0010807 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0100267 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2750 Orofaciodigital syndrome type 1 HP:0100612 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0002104 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0002789 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0004987 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0005349 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0005873 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0006342 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0005736 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0006695 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0007768 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0008947 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0009826 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0010230 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0011087 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0030680 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0100702 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0100874 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0410033 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000050 ORPHA:2751 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000695 ORPHA:2751 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0002069 ORPHA:2751 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0009776 ORPHA:2751 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000175 ORPHA:2751 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000161 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000190 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000199 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000218 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000431 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000685 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0001841 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0004322 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0006042 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0006101 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0006289 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0010055 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0010068 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0010100 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0010297 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0011802 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0011819 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0040019 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000220 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000347 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000405 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000411 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000506 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000679 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0001161 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0001162 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2751 Orofaciodigital syndrome type 2 HP:0001263 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000407 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000463 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0001367 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0003468 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0003498 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0005280 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0011800 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0040163 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000175 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000193 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000347 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0001156 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0002656 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0006375 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0009826 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0011314 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0011867 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0012368 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000162 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000358 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000470 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000520 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000926 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0001376 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0001561 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0001852 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0002758 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0002834 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0002938 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0002982 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0003037 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0003417 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0009803 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0010049 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0010502 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0100569 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000486 ORPHA:1427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000540 ORPHA:1427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0025573 ORPHA:1427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000518 ORPHA:1427 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000541 ORPHA:1427 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0007964 ORPHA:1427 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0011003 ORPHA:1427 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0000347 ORPHA:1426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0000774 ORPHA:1426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0000926 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0001004 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0001156 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0001362 ORPHA:1426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0001881 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0002983 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0003312 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0004331 ORPHA:1426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0006619 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0008890 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0008905 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0009106 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0011800 ORPHA:1426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0011849 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1426 Greenberg dysplasia HP:0100569 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000164 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000180 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000193 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000316 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000369 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000414 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000577 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000657 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000767 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000879 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001162 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001257 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001305 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001320 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001336 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001830 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0002942 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0003774 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0010864 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0011168 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0011802 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0012489 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0012547 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0040079 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0010729 ORPHA:2752 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0012044 ORPHA:2752 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001626 ORPHA:2752 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0010719 ORPHA:2752 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2752 Orofaciodigital syndrome type 3 HP:0011842 ORPHA:2752 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002615 ORPHA:36234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0031273 ORPHA:36234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0032169 ORPHA:36234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0001289 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0001581 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0001649 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0001942 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0001945 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002027 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002098 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002151 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0003326 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0011799 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0012531 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0100537 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0000083 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0000099 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0000246 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0000988 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0001287 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0001369 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0001873 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002013 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002014 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002018 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002090 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002383 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002586 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002754 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002789 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002814 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002817 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0002901 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0003073 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0003095 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0003236 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0003259 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0005521 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0008066 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0011355 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0011947 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0012115 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0012819 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0025143 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0025439 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0025615 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0030005 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0031364 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0031691 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0031864 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0032170 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0032237 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0032238 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0032675 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0040189 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0100614 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0100658 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0100806 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0000010 ORPHA:36234 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36234 Bacterial toxic-shock syndrome HP:0000969 ORPHA:36234 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0000368 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0000463 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0000470 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0000499 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0000501 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0000520 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0000592 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0000944 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0008070 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0001249 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0001591 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0001629 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0002650 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0002673 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0002812 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0002816 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0002974 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0002999 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0003042 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0003366 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0003510 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0004209 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0005280 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0005616 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0005692 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0008873 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0010318 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0100490 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1425 Desbuquois syndrome HP:0200055 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000157 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000161 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000168 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000190 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000202 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000252 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000278 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000316 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000347 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000356 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000358 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000369 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000405 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000445 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000453 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000457 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000496 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001162 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001177 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001249 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001263 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001328 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001367 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001373 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001511 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001562 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001601 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002205 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002970 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002983 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0003196 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0003510 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0005772 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0006101 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0008734 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0009118 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0010285 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0010469 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0010566 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0011267 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0011830 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0030868 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000175 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000176 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000193 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000520 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001171 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001508 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001510 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002120 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002705 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0011968 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0012157 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0100308 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0100490 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000104 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000143 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000322 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000598 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001800 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002023 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002089 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0004871 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0005944 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0008207 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0008678 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0011255 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0025023 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2753 Orofaciodigital syndrome type 4 HP:0030680 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000175 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000180 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000190 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000199 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000218 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000276 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000316 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000347 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000368 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000405 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000455 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000565 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000639 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001156 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001159 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001249 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001251 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001252 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001263 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001288 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001290 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001508 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001510 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002007 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002419 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0004322 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0004422 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0007036 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000286 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0008689 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0008872 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0011802 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0040019 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0100258 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000104 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000426 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001161 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001250 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001320 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001337 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001627 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001829 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002104 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002269 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002444 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002553 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002876 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0006145 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0007370 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0008678 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0009084 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2754 Orofaciodigital syndrome type 6 HP:0100260 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0000126 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001195 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001629 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001631 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001636 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001643 ORPHA:210122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001647 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001650 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001734 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001746 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002023 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002092 ORPHA:210122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002098 ORPHA:210122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002251 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002566 ORPHA:210122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002575 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002580 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0003468 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0004383 ORPHA:210122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0006695 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0010882 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0011467 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210122 Congenital alveolar capillary dysplasia HP:0100867 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0000444 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0000670 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0000962 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0001034 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0001595 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0001798 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0002293 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0004404 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0007471 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0007502 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0030503 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0040211 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69125 Anonychia with flexural pigmentation HP:0100872 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0001251 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0001260 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0002066 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0002078 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0002136 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0002345 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0002719 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0006801 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0007979 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0010904 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210128 Urocanic aciduria HP:0012237 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0000093 ORPHA:69126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0001061 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0001369 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0001376 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0001945 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0002716 ORPHA:69126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0002829 ORPHA:69126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0010702 ORPHA:69126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0012378 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0012649 ORPHA:69126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0100280 ORPHA:69126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0100614 ORPHA:69126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0100651 ORPHA:69126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0200039 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0200042 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0000407 ORPHA:2744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0000470 ORPHA:2744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0000639 ORPHA:2744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0001250 ORPHA:2744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0002650 ORPHA:2744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0002808 ORPHA:2744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0007817 ORPHA:2744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0100543 ORPHA:2744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1412 Tarsal-carpal coalition syndrome HP:0003028 ORPHA:1412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1412 Tarsal-carpal coalition syndrome HP:0004322 ORPHA:1412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1412 Tarsal-carpal coalition syndrome HP:0008368 ORPHA:1412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000348 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000455 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000508 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000537 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0002007 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0005280 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0005453 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0009119 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000256 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000260 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000316 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000358 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0001511 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0001518 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0002693 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0004322 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0005494 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0010291 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0011330 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000077 ORPHA:488437 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000820 ORPHA:488437 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:488437 SIX2-related frontonasal dysplasia HP:0001263 ORPHA:488437 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000316 ORPHA:2745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000343 ORPHA:2745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000431 ORPHA:2745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0011220 ORPHA:2745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000047 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000175 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000349 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000463 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000506 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000508 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000736 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001249 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001273 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001328 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001999 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0002119 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0004322 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0008751 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0012758 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0410030 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000023 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000028 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000048 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000049 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000076 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000079 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000119 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000126 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000218 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000239 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000252 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000347 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000358 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000365 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000369 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000494 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000729 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000776 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001274 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001305 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001363 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001537 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001539 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001627 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001629 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001631 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001643 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001655 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0001680 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0002015 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0002023 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0002079 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0002100 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0002465 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0002575 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0002616 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0004397 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0004467 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0005301 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0005487 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0006817 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0008872 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0010307 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0012443 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0031936 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0100879 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000486 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000539 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000668 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000695 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0000813 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0002779 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0003422 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0010296 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2745 Opitz GBBB syndrome HP:0010518 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0000239 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0000256 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0000592 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0000767 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0000774 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0000944 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0001156 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0001182 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0001252 ORPHA:2746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0001387 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0001744 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0002007 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0002093 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0002205 ORPHA:2746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0002240 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0002750 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0003173 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0003175 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0003177 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0003196 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0003510 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0005280 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0005469 ORPHA:2746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0005930 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0008479 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0011304 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2746 Opsismodysplasia HP:0100569 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1410 Uncombable hair syndrome HP:0001595 ORPHA:1410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1410 Uncombable hair syndrome HP:0002208 ORPHA:1410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1410 Uncombable hair syndrome HP:0002224 ORPHA:1410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1410 Uncombable hair syndrome HP:0002232 ORPHA:1410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1410 Uncombable hair syndrome HP:0002552 ORPHA:1410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1410 Uncombable hair syndrome HP:0011364 ORPHA:1410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000278 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000324 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000377 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000437 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000455 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000465 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000470 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000506 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000574 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000772 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000929 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000935 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000938 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0001054 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0001256 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0001773 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0002750 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0003298 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0006402 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0006429 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0010761 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0012036 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0012368 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0012810 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0200055 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0430007 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000054 ORPHA:488434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0000083 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0000217 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0000670 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0000951 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0001324 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0001369 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0001371 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0001635 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002015 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002017 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002020 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002024 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002092 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002094 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002113 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002206 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002797 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002829 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002960 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0030016 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0030142 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0100520 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0100585 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0100735 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0100958 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0200042 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000365 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000491 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000656 ORPHA:79394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000966 ORPHA:79394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000982 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000989 ORPHA:79394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0001019 ORPHA:79394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0001508 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0001596 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0001597 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0004322 ORPHA:79394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0008064 ORPHA:79394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0200020 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0009926 ORPHA:57145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0030953 ORPHA:57145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0032148 ORPHA:57145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0000508 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0000711 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0000713 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0000975 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0001069 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0002076 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0031284 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0031417 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0031731 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0100661 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0000282 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0000613 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0000616 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0001041 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0001742 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0002018 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0030766 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0040264 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0100540 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57145 SUNCT syndrome HP:0002013 ORPHA:57145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0000972 ORPHA:79395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0007503 ORPHA:79395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0010491 ORPHA:79395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0000962 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0000982 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0001036 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0007465 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0007479 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0025114 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0025525 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0032541 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0001596 ORPHA:79395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0001805 ORPHA:79395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0008404 ORPHA:79395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0025092 ORPHA:79395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0040162 ORPHA:79395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0000707 ORPHA:79395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0000407 ORPHA:79395 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0000982 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001030 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0008066 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0008404 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0010783 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0011354 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0000953 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001056 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001057 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001075 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001510 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001581 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001596 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001903 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0006297 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0007589 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0007599 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0011471 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0011968 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0100699 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0200097 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0000540 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0000613 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001010 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001263 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001363 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001508 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001600 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001601 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001609 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001805 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0002119 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0002719 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0002780 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0003073 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0004313 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0005483 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0006934 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0007483 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0007957 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0008944 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0010298 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0100806 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0006739 ORPHA:79396 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0001070 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0003341 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0007427 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0007585 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0008066 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0009123 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0001034 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0002164 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0005590 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0007556 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0008404 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0009719 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0010765 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0045059 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0000164 ORPHA:79397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0000992 ORPHA:79397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0001056 ORPHA:79397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0001596 ORPHA:79397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0200097 ORPHA:79397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1416 Familial calcium pyrophosphate deposition HP:0000934 ORPHA:1416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1416 Familial calcium pyrophosphate deposition HP:0001250 ORPHA:1416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1416 Familial calcium pyrophosphate deposition HP:0001369 ORPHA:1416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1416 Familial calcium pyrophosphate deposition HP:0001373 ORPHA:1416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1416 Familial calcium pyrophosphate deposition HP:0001376 ORPHA:1416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1416 Familial calcium pyrophosphate deposition HP:0001386 ORPHA:1416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1416 Familial calcium pyrophosphate deposition HP:0002758 ORPHA:1416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1416 Familial calcium pyrophosphate deposition HP:0002829 ORPHA:1416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1416 Familial calcium pyrophosphate deposition HP:0005108 ORPHA:1416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1416 Familial calcium pyrophosphate deposition HP:0100593 ORPHA:1416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0001336 ORPHA:324290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0100318 ORPHA:324290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0000708 ORPHA:324290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0001260 ORPHA:324290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0001347 ORPHA:324290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0001250 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0001251 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0001268 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0001285 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0001289 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0002300 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324290 Early-onset Lafora body disease HP:0011999 ORPHA:324290 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0000962 ORPHA:79399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0003341 ORPHA:79399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0007585 ORPHA:79399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0008066 ORPHA:79399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0005585 ORPHA:79399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0005590 ORPHA:79399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0007556 ORPHA:79399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0010765 ORPHA:79399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0000164 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0001034 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0001056 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0008404 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0009123 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0009719 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0200097 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0000989 ORPHA:79399 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0200034 ORPHA:79399 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0000485 ORPHA:2741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0000501 ORPHA:2741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0000618 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0001376 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0002974 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0002983 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0003027 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0003042 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0004348 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0005048 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0005446 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0006055 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0006439 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0006441 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0006501 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0007957 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0009773 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0012478 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0100490 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001324 ORPHA:37553 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0003768 ORPHA:37553 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0003752 ORPHA:37553 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000164 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000347 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001657 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001999 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0004308 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0004322 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0008153 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000218 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000219 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000316 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000324 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000325 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000327 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000337 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000369 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000414 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000431 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000677 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000678 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000859 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001250 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001328 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001388 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001510 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001644 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001664 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001773 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001864 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001962 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0002650 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0004691 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0005135 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0005147 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0005184 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0006335 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0006682 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0006696 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0007215 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0011073 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0012745 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0012758 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0025072 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0030799 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0031677 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0200055 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000089 ORPHA:37553 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0000124 ORPHA:37553 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37553 Andersen-Tawil syndrome HP:0001279 ORPHA:37553 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0000952 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001000 ORPHA:1414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001004 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001012 ORPHA:1414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001080 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001394 ORPHA:1414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001409 ORPHA:1414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001744 ORPHA:1414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0002017 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0002027 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0002239 ORPHA:1414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0002240 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0002653 ORPHA:1414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0003077 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0003110 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0004349 ORPHA:1414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0006566 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0011985 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0012378 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1414 Cholestasis-lymphedema syndrome HP:0100763 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0000818 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0000843 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0002897 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0003072 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0003165 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0008208 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0000825 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0000845 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0000854 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0001031 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0002014 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0002044 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0002574 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0002893 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0004398 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0006767 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0006772 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0008256 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0008283 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0010615 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0011760 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0011761 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0012091 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0012197 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0030445 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0100633 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0100634 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0003118 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0006780 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0007449 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0008291 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0010783 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0010788 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0012030 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0012334 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0030079 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0030688 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0100570 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0100522 ORPHA:276152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000221 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000508 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000597 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000602 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0001249 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0001263 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0001328 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0007703 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0012246 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000545 ORPHA:2743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0010628 ORPHA:2743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000512 ORPHA:2743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0002301 ORPHA:2743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0000246 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0000403 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0001508 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0001888 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0002014 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0002788 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0002849 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0002960 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0003212 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0005354 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0005368 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0005390 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0005403 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0006532 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0010444 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0010976 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0011123 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0012393 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0025379 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0030813 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000924 ORPHA:508533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001263 ORPHA:508533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001270 ORPHA:508533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0004565 ORPHA:508533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000252 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000765 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001156 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001230 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001249 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001252 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001265 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001328 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001888 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001999 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002007 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002808 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002813 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002867 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003196 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003311 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003319 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003375 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003498 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0004313 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005403 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0008807 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0009768 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0009803 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0010049 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0025336 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0031381 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0032061 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0045060 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000085 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000160 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000194 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000212 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000276 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000280 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000293 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000343 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000347 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000414 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000463 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000490 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000520 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000639 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000733 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000960 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001177 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001250 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001276 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001290 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001344 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001347 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001363 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001561 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001634 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001830 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002079 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002119 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002179 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002197 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002240 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002307 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002341 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002540 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002676 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002750 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002850 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002938 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002987 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002996 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003051 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003189 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003212 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0004315 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0004430 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0004894 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005280 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005306 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005407 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005415 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005619 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0006532 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0008445 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0008462 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0008763 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0008936 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0009053 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0009062 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0009826 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0011166 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0011344 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0030320 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0100865 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0001888 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0001954 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002090 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005407 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0010701 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0031381 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0031397 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0040218 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0000988 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002014 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002718 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002720 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0004315 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005390 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0012735 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0031545 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0045080 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0100806 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0001508 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002728 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002732 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005353 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005376 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005406 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005428 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0009098 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0011370 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0030813 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0000952 ORPHA:276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002240 ORPHA:276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002665 ORPHA:276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0003237 ORPHA:276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005523 ORPHA:276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0003125 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0004377 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0008151 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0008330 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0030129 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0030680 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0000132 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0000421 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0000471 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0000790 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0000978 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0001642 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0001650 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0001653 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0001659 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0001897 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0001931 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0001933 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0001934 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0002239 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0002249 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0002615 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0005261 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0005505 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0025406 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0100608 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99147 Acquired von Willebrand syndrome HP:0002170 ORPHA:99147 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001324 ORPHA:273 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001262 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002460 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003740 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0007787 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0031546 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0100284 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000708 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001288 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002494 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002870 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003326 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0005110 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0006677 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0007010 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0009027 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0012248 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0012378 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0030192 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0030319 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0031466 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0100543 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0100786 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0410011 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000026 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000029 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000144 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000467 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000483 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000540 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000602 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000716 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000729 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000736 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000739 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000802 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000815 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000819 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000842 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000855 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000867 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001081 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001256 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001260 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001263 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001268 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001319 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001328 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001349 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001488 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001558 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001561 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000712 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001596 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001762 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002014 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002019 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002093 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002120 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002234 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002500 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002527 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002747 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002878 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002910 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002926 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003124 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003202 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003693 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003701 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003722 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0004389 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0004755 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0004887 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0006889 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0007663 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0007941 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0008872 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0009113 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0009830 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0010794 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0010804 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0010952 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0011470 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0011999 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0012899 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0012901 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0012903 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0025169 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0040171 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0040173 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0200136 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000717 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000718 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0000824 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0001644 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0002540 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003003 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003477 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003547 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0003749 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0008069 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0008770 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0012054 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0012114 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0025318 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0030692 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:273 Steinert myotonic dystrophy HP:0040198 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000238 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000248 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000268 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000298 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000501 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000505 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000518 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000545 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000648 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000750 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000767 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001250 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001252 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001263 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001288 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001357 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001371 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001511 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001612 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001644 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0002119 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0002353 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0003198 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0003457 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0003560 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0007260 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0007370 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0007973 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0010864 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0030046 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0100490 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0002718 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0002720 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0004315 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0005390 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0200043 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0200117 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0000388 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0000988 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0001045 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0001508 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0002960 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0004429 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0005681 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0009098 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0011107 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0011274 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0031123 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0045080 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0000872 ORPHA:275 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0011871 ORPHA:274 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0001892 ORPHA:274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0001902 ORPHA:274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0011879 ORPHA:274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0040185 ORPHA:274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0000132 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0000967 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0002239 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0004406 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0006298 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0007420 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0000225 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0000978 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0002248 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0004846 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0012143 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0012587 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0001250 ORPHA:274 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0002076 ORPHA:274 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0002099 ORPHA:274 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:274 Bernard-Soulier syndrome HP:0008738 ORPHA:274 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:270 Oculopharyngeal muscular dystrophy HP:0000298 ORPHA:270 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:270 Oculopharyngeal muscular dystrophy HP:0000508 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:270 Oculopharyngeal muscular dystrophy HP:0000600 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:270 Oculopharyngeal muscular dystrophy HP:0000602 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:270 Oculopharyngeal muscular dystrophy HP:0003198 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:270 Oculopharyngeal muscular dystrophy HP:0003200 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:270 Oculopharyngeal muscular dystrophy HP:0003236 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:270 Oculopharyngeal muscular dystrophy HP:0003302 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:270 Oculopharyngeal muscular dystrophy HP:0003805 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:270 Oculopharyngeal muscular dystrophy HP:0004303 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0000316 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0000405 ORPHA:1522 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0000407 ORPHA:1522 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0000431 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0000505 ORPHA:1522 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0000506 ORPHA:1522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0000944 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0001291 ORPHA:1522 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0002652 ORPHA:1522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0004493 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0005280 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0010628 ORPHA:1522 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1522 Craniometaphyseal dysplasia HP:0011002 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000316 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000445 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000455 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001363 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0004112 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0009116 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000136 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000154 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000200 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000218 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000465 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000486 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001159 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001231 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001357 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001464 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001540 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0002162 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0002558 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0006008 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0006709 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0009930 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0011959 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0012243 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0030867 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0045075 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2856 Persistent Müllerian duct syndrome HP:0000023 ORPHA:2856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2856 Persistent Müllerian duct syndrome HP:0000028 ORPHA:2856 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2856 Persistent Müllerian duct syndrome HP:0000037 ORPHA:2856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000047 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000049 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000164 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000202 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000218 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000248 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000252 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000316 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000324 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000349 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000407 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000431 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000457 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000474 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000494 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000767 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000776 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000889 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0000912 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0001156 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0001161 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0001249 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0001252 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0001357 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0001363 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0001852 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0002007 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0002079 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0002162 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0002224 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0002650 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0004122 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0004209 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0005692 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0006101 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0006585 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0006709 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0008402 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0010059 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0010719 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0100490 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1520 Craniofrontonasal dysplasia HP:0200021 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000160 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000275 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000316 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000327 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000407 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000457 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000494 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000564 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000581 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0003019 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0003049 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0003196 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0005280 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0009465 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0009924 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0012368 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0100490 ORPHA:1529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0000238 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0000252 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0000368 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0000505 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0000568 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0000648 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0001263 ORPHA:1528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0001274 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0001321 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0001339 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0001363 ORPHA:1528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0002007 ORPHA:1528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0002139 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0007330 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1528 Craniotelencephalic dysplasia HP:0100842 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1527 Craniosynostosis, Philadelphia type HP:0000637 ORPHA:1527 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1527 Craniosynostosis, Philadelphia type HP:0001363 ORPHA:1527 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1527 Craniosynostosis, Philadelphia type HP:0006101 ORPHA:1527 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000252 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000365 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000400 ORPHA:2850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000613 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000815 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001156 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001171 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001249 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001250 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001252 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001371 ORPHA:2850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001510 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001596 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0002209 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0002231 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0002353 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0002650 ORPHA:2850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0002750 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0004322 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0005105 ORPHA:2850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0008064 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0011842 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0100840 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2850 Alopecia-intellectual disability syndrome HP:0200012 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:269 Facioscapulohumeral dystrophy HP:0000298 ORPHA:269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:269 Facioscapulohumeral dystrophy HP:0000407 ORPHA:269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:269 Facioscapulohumeral dystrophy HP:0000499 ORPHA:269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:269 Facioscapulohumeral dystrophy HP:0030680 ORPHA:269 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:269 Facioscapulohumeral dystrophy HP:0003202 ORPHA:269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:269 Facioscapulohumeral dystrophy HP:0003236 ORPHA:269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:269 Facioscapulohumeral dystrophy HP:0003307 ORPHA:269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:269 Facioscapulohumeral dystrophy HP:0003457 ORPHA:269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:269 Facioscapulohumeral dystrophy HP:0008046 ORPHA:269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:269 Facioscapulohumeral dystrophy HP:0100540 ORPHA:269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0000239 ORPHA:1525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0000929 ORPHA:1525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0000964 ORPHA:1525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0001070 ORPHA:1525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0001369 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0001386 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0001387 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0002758 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0002815 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0002829 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0002992 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0003103 ORPHA:1525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0004097 ORPHA:1525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1525 Cranio-osteoarthropathy HP:0100760 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003547 ORPHA:266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003701 ORPHA:266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003749 ORPHA:266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002460 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002540 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003236 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003458 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003551 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003557 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003698 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003736 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0005085 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0006376 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0009027 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0012515 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0012548 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0100297 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0000297 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002015 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002093 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002792 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002795 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002878 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0012496 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003236 ORPHA:268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0007340 ORPHA:268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0008994 ORPHA:268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0001315 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0001640 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0001667 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0001761 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003115 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003307 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003551 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003691 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003722 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0008981 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0008997 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0009046 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0011712 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0012664 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0100748 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0002015 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0002072 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0002540 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0002996 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003306 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0005085 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0008800 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0008959 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0030051 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0045054 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0100515 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001903 ORPHA:508542 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0005528 ORPHA:508542 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000280 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001249 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001635 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001873 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001875 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001882 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001888 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001896 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001999 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0002788 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0002863 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0004322 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0006872 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0010976 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0012758 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0031688 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0031689 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000212 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000243 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000365 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000518 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000684 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000765 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000916 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000958 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000964 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001156 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001482 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0002783 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0004991 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0005180 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0005792 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0010049 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0011800 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0012490 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0012817 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0000657 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0000739 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0001251 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0001289 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0002442 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0010523 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0010524 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0010525 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0010526 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0100704 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0000504 ORPHA:54247 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0000551 ORPHA:54247 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0000613 ORPHA:54247 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0010522 ORPHA:54247 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0030217 ORPHA:54247 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0002354 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0002367 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0002463 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0002494 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0011098 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54247 Posterior cortical atrophy HP:0030216 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003324 ORPHA:267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0001371 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0002355 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0002987 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003089 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003236 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003306 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003307 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003560 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003691 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003701 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0005879 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0006466 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0007340 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0008946 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0008981 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0009060 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0012037 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0030051 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0001239 ORPHA:267 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003551 ORPHA:267 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0001256 ORPHA:262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0001288 ORPHA:262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0001387 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0001639 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0002376 ORPHA:262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0002650 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003100 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003198 ORPHA:262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003202 ORPHA:262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003236 ORPHA:262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003307 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003457 ORPHA:262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:262 Duchenne and Becker muscular dystrophy HP:0004349 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001513 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001644 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001678 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0000767 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001315 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001387 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002486 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003198 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003236 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0006785 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0000912 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001288 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001771 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002155 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002515 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002987 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003141 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003306 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003418 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003458 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003691 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003805 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0004631 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0008948 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0008956 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0008994 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0008997 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0011807 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0030117 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0030051 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0000508 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001252 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002650 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002808 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003307 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0005115 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0008064 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0009125 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001605 ORPHA:261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001639 ORPHA:261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001645 ORPHA:261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002747 ORPHA:261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0005155 ORPHA:261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001249 ORPHA:261 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1509 Coxopodopatellar syndrome HP:0001385 ORPHA:1509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1509 Coxopodopatellar syndrome HP:0002644 ORPHA:1509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1509 Coxopodopatellar syndrome HP:0002815 ORPHA:1509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1509 Coxopodopatellar syndrome HP:0005930 ORPHA:1509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1509 Coxopodopatellar syndrome HP:0006498 ORPHA:1509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000308 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000431 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000463 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000708 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0001336 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0003763 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0004322 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0007018 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0011342 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000248 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000369 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000565 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0002378 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:3000022 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000218 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000286 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000403 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000540 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000574 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000826 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000957 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0000958 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0001387 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0001537 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0001795 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0001800 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0002553 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0002650 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0003241 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0004209 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0010489 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324313 9p13 microdeletion syndrome HP:0011330 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000013 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000047 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000054 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000144 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000147 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000786 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000815 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000823 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000939 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0002215 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0002225 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0002231 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0002750 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0004349 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008187 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008193 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008214 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008232 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008675 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0011969 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0012112 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0030349 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0040171 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0100607 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000028 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000868 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0004322 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008726 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008734 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0012041 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000033 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000037 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000771 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0001508 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008730 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0012244 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002376 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002384 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002509 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002540 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0007772 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0008947 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0011198 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0100704 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000396 ORPHA:488613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000767 ORPHA:488613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002126 ORPHA:488613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0012448 ORPHA:488613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000252 ORPHA:488613 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001263 ORPHA:488613 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001290 ORPHA:488613 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001249 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001250 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001508 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001510 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002353 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002474 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0010841 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0011968 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000126 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000175 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000218 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000486 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000639 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002069 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2843 Pentosuria HP:0011021 ORPHA:2843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2843 Pentosuria HP:0031979 ORPHA:2843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2843 Pentosuria HP:0011013 ORPHA:2843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0000151 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0003251 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0010463 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0011969 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0030088 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0031102 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0040307 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0000047 ORPHA:90797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0000062 ORPHA:90797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0000771 ORPHA:90797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0008689 ORPHA:90797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0025132 ORPHA:90797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0000027 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0000048 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0000051 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0000054 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0000786 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0001620 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0008189 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0008665 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0009888 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0025134 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0025486 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0040314 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0100728 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90797 Partial androgen insensitivity syndrome HP:0100779 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000522 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0001249 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0001263 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0001270 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0001344 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0012434 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000486 ORPHA:289483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0002571 ORPHA:289483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0009916 ORPHA:289483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000384 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000718 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000805 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0002002 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0002015 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0002119 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000834 ORPHA:289483 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0009112 ORPHA:2847 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0011635 ORPHA:2847 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0002089 ORPHA:2847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0002643 ORPHA:2847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0012418 ORPHA:2847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0000766 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0000767 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0000776 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0001627 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0001631 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0001636 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0001643 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0001647 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0001718 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0001962 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0002245 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0002566 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0012718 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0100632 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2847 Pericardial and diaphragmatic defect HP:0100749 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001225 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001836 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0002812 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0002938 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0003940 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0005086 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0005195 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0008812 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0100490 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0000939 ORPHA:2848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0012062 ORPHA:2848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0100864 ORPHA:2848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001634 ORPHA:2848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001653 ORPHA:2848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001701 ORPHA:2848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0002102 ORPHA:2848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001541 ORPHA:2848 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0008610 ORPHA:2848 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0100018 ORPHA:2848 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0012649 ORPHA:2848 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000098 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000177 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000194 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000256 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000278 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000311 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000319 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000347 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000348 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000431 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000490 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0001249 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0001252 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0001263 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0001328 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0002240 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0003196 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000028 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000187 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000286 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000358 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000369 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000391 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000463 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000842 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0002667 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0002705 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0008736 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0012090 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000023 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000268 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0000508 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0001250 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0002133 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0005306 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0007598 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0010733 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2849 Perlman syndrome HP:0100541 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000028 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000049 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000086 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000202 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000232 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000233 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000248 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000311 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000316 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000343 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000349 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000369 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000426 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000431 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000486 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000494 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000508 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000520 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000574 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000767 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001156 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001537 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001539 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001629 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001631 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001636 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001643 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001831 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0002553 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0003196 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0004209 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0004467 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0006101 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0006288 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0010458 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0010751 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0011039 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0011220 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0011675 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0001945 ORPHA:54251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0011227 ORPHA:54251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0001824 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0001903 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0002027 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0002733 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0002910 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0011897 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0100523 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0000035 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0001732 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0002014 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0002088 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0003326 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0030049 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0100763 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0000077 ORPHA:54251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000154 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000256 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000280 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000286 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000294 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000336 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000343 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000431 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000463 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000470 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000527 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000574 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000774 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000885 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000926 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000939 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0000944 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0001256 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0001537 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0001639 ORPHA:1517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0001640 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0001643 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0001654 ORPHA:1517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0001869 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0002162 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0002230 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0002652 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0002673 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0002750 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0003300 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0004634 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0005616 ORPHA:1517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0006101 ORPHA:1517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0007665 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0009882 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0010059 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0010109 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1517 Cantú syndrome HP:0012471 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000953 ORPHA:90790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0003154 ORPHA:90790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0008730 ORPHA:90790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000055 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000841 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0001945 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0002013 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0002153 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0002902 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0008163 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0008221 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0030347 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000037 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000053 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000707 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000952 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0001250 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0001298 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0001508 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0001943 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0002090 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0010885 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0003002 ORPHA:90790 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0012114 ORPHA:90790 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0040187 ORPHA:90790 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000163 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000194 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000238 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000256 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000268 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000286 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000316 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000322 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000324 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000347 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000369 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000402 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000430 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000431 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000470 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000486 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000494 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000639 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000960 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0001052 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0001363 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0001537 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0001643 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0002007 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0002079 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0004209 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0004322 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0009891 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0011344 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008258 ORPHA:90791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000033 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000047 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000061 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000127 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000771 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000848 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000953 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0001944 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0001998 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0002013 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0002153 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0002615 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0002902 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0004319 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008163 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008665 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0011749 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0012041 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0025380 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0030088 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0031213 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0040171 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0500022 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000027 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000028 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000037 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000808 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0001007 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0001508 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008730 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008734 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0012412 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0012768 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0012881 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0001263 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0001263 ORPHA:488618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0001627 ORPHA:488618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0003508 ORPHA:488618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0025550 ORPHA:488618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0000518 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0000554 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0000722 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0000750 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0001252 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0001256 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0001344 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0001629 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0001631 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0007018 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0410072 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0000107 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0000365 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0000509 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0000733 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0000869 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0001051 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0001643 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0001655 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0002240 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0011686 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0100651 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488618 Transketolase deficiency HP:0100716 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000164 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000232 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000268 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000269 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000286 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000463 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000545 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000601 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000639 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000668 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000679 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000682 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000691 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000767 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000774 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000939 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000940 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0000944 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0001156 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0001231 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0001363 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0002007 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0004209 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0005692 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0006101 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0008070 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0008388 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0008499 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0008905 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1515 Cranioectodermal dysplasia HP:0009882 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0000248 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0000347 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0000446 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0000527 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0000574 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0001249 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0002230 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0003196 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0003298 ORPHA:1514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0004322 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0006101 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0007477 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0010720 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0100874 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0000592 ORPHA:2840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0001288 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0001376 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0002827 ORPHA:2840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0003100 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0003202 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0003298 ORPHA:2840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0005280 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0008839 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0010767 ORPHA:2840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001252 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001270 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001324 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001612 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001939 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002020 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002375 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002540 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002878 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0003560 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0003741 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0009025 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0030091 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0030234 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0100295 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0100614 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0000158 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001249 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001250 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001371 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002181 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002446 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002783 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002835 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0003457 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0005216 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0010628 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0010754 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0012747 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0000194 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0000649 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001302 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001315 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001319 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001339 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001638 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002015 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002058 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002121 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002650 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002791 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0003307 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0004325 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0004878 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0006879 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0007141 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0007359 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0010808 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0011675 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0012664 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0100543 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0100750 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002092 ORPHA:258 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002093 ORPHA:258 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000822 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000837 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008258 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0031074 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0032330 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0032362 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0040171 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0500022 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000026 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000047 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000138 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000144 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000771 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000786 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000823 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000858 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0002750 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0002900 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0003351 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0004319 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008163 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008187 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008197 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008232 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008689 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0011749 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0011969 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0031216 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000033 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000048 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000054 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000151 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0001508 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0002221 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0002555 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0003251 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0003394 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008207 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008730 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0010465 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0040314 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0000256 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0000280 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0000402 ORPHA:1513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0000405 ORPHA:1513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0000431 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0000648 ORPHA:1513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0000772 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0001249 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0002007 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0004322 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0004493 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0005019 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1513 Craniodiaphyseal dysplasia HP:0005280 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2841 Familial benign chronic pemphigus HP:0000962 ORPHA:2841 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2841 Familial benign chronic pemphigus HP:0010783 ORPHA:2841 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2841 Familial benign chronic pemphigus HP:0100792 ORPHA:2841 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2841 Familial benign chronic pemphigus HP:0200041 ORPHA:2841 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2841 Familial benign chronic pemphigus HP:0200037 ORPHA:2841 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0008163 ORPHA:90794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0030348 ORPHA:90794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0031074 ORPHA:90794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0031213 ORPHA:90794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0031216 ORPHA:90794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000127 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000140 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000144 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000811 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000841 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000876 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001007 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001061 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001507 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001508 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001824 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001944 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001998 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0002013 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0002153 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0002615 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0002902 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0003113 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0003154 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0003639 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0004012 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0004319 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0004322 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0005616 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0005976 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0008207 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0008665 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0011106 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0011968 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0012411 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0012417 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0012605 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0025380 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0030088 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0031066 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0500022 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000040 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000044 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000061 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000062 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000098 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000151 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0002292 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0005268 ORPHA:90794 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0008734 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0010465 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0012412 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0025451 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0025486 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0031273 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0100779 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0000028 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0000175 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0000316 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0000347 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0000368 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0000463 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0000882 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0001387 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0001511 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0001762 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0001770 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0002119 ORPHA:1512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0004331 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0005280 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0006101 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0006660 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0007370 ORPHA:1512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0008736 ORPHA:1512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0009882 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1512 Crane-Heise syndrome HP:0100569 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000047 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000049 ORPHA:2842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000069 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000078 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000104 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000110 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000269 ORPHA:2842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000286 ORPHA:2842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000347 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000768 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000795 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0000811 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0001638 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0002120 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0004209 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0006443 ORPHA:2842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0006610 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0007598 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0010751 ORPHA:2842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2842 Penoscrotal transposition HP:0100600 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000062 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000822 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0001507 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0002900 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0003351 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0005616 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0008163 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0025380 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0030348 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0031213 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0032330 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000040 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000061 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000826 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000858 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000953 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0001007 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0001061 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0003154 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0004322 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0008236 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0008665 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0012411 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0012412 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000127 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000147 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000771 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0001596 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0025451 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0030088 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0002170 ORPHA:90795 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0010314 ORPHA:90795 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0001298 ORPHA:51188 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0003219 ORPHA:51188 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0000967 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0001063 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0001249 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0001250 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0001251 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0001290 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0001508 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0002014 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0002071 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0002376 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0003128 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0007256 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0012751 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0012758 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0012841 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51188 Ethylmalonic encephalopathy HP:0012747 ORPHA:51188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276183 Spinocerebellar ataxia type 32 HP:0000027 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276183 Spinocerebellar ataxia type 32 HP:0000029 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276183 Spinocerebellar ataxia type 32 HP:0001272 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276183 Spinocerebellar ataxia type 32 HP:0002073 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276183 Spinocerebellar ataxia type 32 HP:0003251 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276183 Spinocerebellar ataxia type 32 HP:0100543 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000544 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002013 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002015 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002018 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002020 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002027 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002352 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002579 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003270 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0004326 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0004396 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0007141 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0012850 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0025149 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000407 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000508 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000597 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001155 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001824 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002014 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002460 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002500 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002910 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002922 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003128 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003200 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003348 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003387 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003388 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003401 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003431 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003448 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003477 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0007108 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0008049 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0009027 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0009830 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0011024 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0012103 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000044 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000815 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001249 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001394 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001403 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001903 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003199 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0025461 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000726 ORPHA:298 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000453 ORPHA:280200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0006315 ORPHA:280200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0010644 ORPHA:280200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000252 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000322 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000446 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000601 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0001249 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0001511 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0001622 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0004322 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0010804 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000062 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000104 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000175 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000202 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000463 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000486 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000612 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000821 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0000871 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0001028 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0001250 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0001274 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0001360 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0001636 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0002099 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0002247 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0030680 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0002650 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0003196 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0003458 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0008736 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0009800 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280200 Microform holoprosencephaly HP:0009914 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002098 ORPHA:99125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0000961 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001631 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001649 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002092 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002875 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011539 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011719 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0012378 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0012763 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0000980 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001629 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001640 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001643 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001651 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001708 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001719 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001750 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002033 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002089 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002205 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002240 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0004383 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0004415 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0004887 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0005180 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0005253 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0005949 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0009805 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011720 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011721 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011722 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0030853 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0030918 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0030919 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001653 ORPHA:99125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001669 ORPHA:99125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001680 ORPHA:99125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011560 ORPHA:99125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0012304 ORPHA:99125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:295 Fetal parvovirus syndrome HP:0000478 ORPHA:295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:295 Fetal parvovirus syndrome HP:0000504 ORPHA:295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:295 Fetal parvovirus syndrome HP:0001511 ORPHA:295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:295 Fetal parvovirus syndrome HP:0001541 ORPHA:295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:295 Fetal parvovirus syndrome HP:0001639 ORPHA:295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:295 Fetal parvovirus syndrome HP:0001789 ORPHA:295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:295 Fetal parvovirus syndrome HP:0001873 ORPHA:295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:295 Fetal parvovirus syndrome HP:0001903 ORPHA:295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:295 Fetal parvovirus syndrome HP:0010880 ORPHA:295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0000989 ORPHA:33314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0000992 ORPHA:33314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0004332 ORPHA:33314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0010783 ORPHA:33314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0200034 ORPHA:33314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0200035 ORPHA:33314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:294 Fetal cytomegalovirus syndrome HP:0000407 ORPHA:294 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:294 Fetal cytomegalovirus syndrome HP:0000478 ORPHA:294 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:294 Fetal cytomegalovirus syndrome HP:0000504 ORPHA:294 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:294 Fetal cytomegalovirus syndrome HP:0001744 ORPHA:294 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294 Fetal cytomegalovirus syndrome HP:0001903 ORPHA:294 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294 Fetal cytomegalovirus syndrome HP:0001928 ORPHA:294 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294 Fetal cytomegalovirus syndrome HP:0002240 ORPHA:294 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0012229 ORPHA:297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0001882 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002018 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002039 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002315 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002829 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0003326 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0011112 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0012378 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0020071 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0000360 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0000365 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0000505 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0000602 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0000613 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0000708 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0000716 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0000751 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0001262 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0001287 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0001291 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0001308 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0001337 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0001873 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0001974 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002013 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002015 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002311 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002321 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002360 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002487 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0003202 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0003237 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0003418 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0003470 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0003474 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0003496 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0003565 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0004372 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0009763 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0011098 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0011227 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0011392 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0011450 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0012332 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0025258 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0031987 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0032044 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0100543 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:3000047 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0000709 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0001259 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0001637 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002197 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0002910 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0007359 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0010628 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0011441 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0012486 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0012747 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0030196 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0031003 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:297 Tick-borne encephalitis HP:0031258 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0000826 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0000926 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0000944 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0001028 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0001387 ORPHA:296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0001482 ORPHA:296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0001903 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0001928 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0002653 ORPHA:296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0002664 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0002763 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0002797 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0002983 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0004936 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0005701 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0006765 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0100242 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0100761 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0100764 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:296 Ollier disease HP:0200042 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000160 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000233 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000316 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000343 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000347 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000369 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000400 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000426 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000494 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000252 ORPHA:96097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0004322 ORPHA:96097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000028 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000047 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000670 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000750 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0001156 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0001363 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0001629 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0002342 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0002984 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0003022 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0003196 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000286 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0012368 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0100790 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000567 ORPHA:96097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0000964 ORPHA:96097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0001651 ORPHA:96097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0009777 ORPHA:96097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96097 Distal trisomy 5q HP:0011466 ORPHA:96097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:291 Congenital varicella syndrome HP:0000252 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:291 Congenital varicella syndrome HP:0000518 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:291 Congenital varicella syndrome HP:0000568 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:291 Congenital varicella syndrome HP:0000987 ORPHA:291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:291 Congenital varicella syndrome HP:0001249 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:291 Congenital varicella syndrome HP:0001263 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:291 Congenital varicella syndrome HP:0001511 ORPHA:291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:291 Congenital varicella syndrome HP:0002120 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:291 Congenital varicella syndrome HP:0002983 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000235 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000252 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000407 ORPHA:290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000486 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000501 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000505 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000518 ORPHA:290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000568 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000639 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000944 ORPHA:290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000952 ORPHA:290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0000988 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001249 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001250 ORPHA:290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001252 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001264 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001511 ORPHA:290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001629 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001631 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001643 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001744 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001873 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0001903 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0002167 ORPHA:290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0002240 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0004322 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0004414 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0007703 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0007957 ORPHA:290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0008053 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:290 Congenital rubella syndrome HP:0100651 ORPHA:290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293 Congenital herpes simplex virus infection HP:0000252 ORPHA:293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293 Congenital herpes simplex virus infection HP:0001511 ORPHA:293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293 Congenital herpes simplex virus infection HP:0001622 ORPHA:293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293 Congenital herpes simplex virus infection HP:0002324 ORPHA:293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0000988 ORPHA:292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0000707 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0000737 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001287 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001873 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001945 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0002086 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0025031 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0100806 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001396 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001399 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001558 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001561 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001622 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001638 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001698 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001789 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001791 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001875 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001882 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001892 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001903 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001974 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0002098 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0002119 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0002202 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0002383 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0002615 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0003073 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0005521 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0011121 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0012115 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0012758 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0012819 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0025116 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0200149 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0001987 ORPHA:292 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0002045 ORPHA:292 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:292 Congenital enterovirus infection HP:0004311 ORPHA:292 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000028 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000054 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000079 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000126 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000154 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000232 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000278 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000311 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000316 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000343 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000347 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000384 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000400 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000431 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000463 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000470 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000478 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000592 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000664 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000717 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000729 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000750 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001263 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000767 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000826 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0004209 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001249 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001250 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001256 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001276 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001305 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001274 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001321 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002827 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001627 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001636 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001651 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001999 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002292 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002510 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002650 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002705 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002916 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0005656 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0005781 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0100807 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0006292 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0007020 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0007018 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0008947 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0010487 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0010864 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0011220 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0011344 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0011466 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96092 8p inverted duplication/deletion syndrome HP:0100710 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000414 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000447 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000750 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001252 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001263 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001999 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0100025 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000028 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000047 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000119 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000232 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000276 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000286 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000365 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000400 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000411 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000486 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000505 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000508 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000540 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000582 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000708 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000968 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001250 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001256 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001319 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001373 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001382 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001388 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001518 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001627 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001761 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001763 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001848 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002011 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002119 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002342 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002353 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0005656 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0007359 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0008897 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0011182 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0011185 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0011968 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0012433 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0012443 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0012745 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000010 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000075 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000076 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000126 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000194 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000238 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000256 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000403 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000426 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000430 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000431 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000519 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000581 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000648 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000729 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000739 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000748 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000767 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000768 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000826 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000957 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000960 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000962 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000964 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001010 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001045 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001054 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001166 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001212 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001274 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001363 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001533 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001596 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001601 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001629 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001631 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001638 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001642 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001647 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002079 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002197 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002205 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002286 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002414 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002650 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002652 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002779 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002808 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0003302 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0003307 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0004942 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0005216 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0006482 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0006813 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0007018 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0007099 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0008064 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0008207 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0008445 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0009130 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0009928 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0010864 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0010945 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0011098 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0011470 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0011822 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0012683 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0012699 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0025268 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0030746 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0100775 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000252 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000821 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0000824 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0001028 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0002861 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363958 17q21.31 microdeletion syndrome HP:0010788 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000207 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000232 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000272 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000316 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000322 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000457 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000494 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000508 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0001643 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0005280 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0012471 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0004209 ORPHA:46627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0004220 ORPHA:46627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0006159 ORPHA:46627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000269 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000365 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000486 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0000545 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0001161 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0001263 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0001629 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0001770 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0002360 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0002558 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0004218 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0006335 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0008498 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:46627 Char syndrome HP:0010112 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0001250 ORPHA:244310 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0001252 ORPHA:244310 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0001263 ORPHA:244310 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0000365 ORPHA:244310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0002804 ORPHA:244310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0000252 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0000505 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0001508 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0001892 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0001928 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0001977 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0002240 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0003186 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0004322 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0011968 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0000932 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0001251 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0002059 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0002120 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0002401 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0007146 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244310 RFT1-CDG HP:0030890 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0000407 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0000486 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0000501 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0000541 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0000787 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0000822 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0001072 ORPHA:2833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0001324 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0001376 ORPHA:2833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0001482 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0003011 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0003119 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0004322 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0005978 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0007328 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0008065 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0009830 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0011800 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0100578 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2833 Stiff skin syndrome HP:0100679 ORPHA:2833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0007407 ORPHA:2834 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000023 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000028 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000218 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000253 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000286 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000316 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000319 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000343 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000369 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000455 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000494 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000670 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000684 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000750 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000767 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000938 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0000973 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001263 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001374 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001476 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001508 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001511 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001537 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001611 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001763 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001788 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001869 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0002645 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0002751 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0002761 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0002812 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0003160 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0003199 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0004322 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0004426 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0004993 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0005272 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0005425 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0006114 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0006191 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0006891 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0007392 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0007457 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0008070 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0008113 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0008897 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0008947 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0009125 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0010838 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0011003 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0025167 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0200141 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001305 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001320 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0001350 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0002073 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0002133 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0011995 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0010989 ORPHA:2834 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2834 Wrinkly skin syndrome HP:0002097 ORPHA:2834 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000044 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000164 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000545 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000668 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0001251 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0001260 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0001332 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0006808 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000496 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000823 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0001337 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0002015 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0002071 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0002307 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0002493 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0004322 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0007240 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0030890 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000570 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000640 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000684 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000824 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0001250 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0001268 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0001272 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0001310 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0002075 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0002079 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0002926 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000518 ORPHA:289494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0000648 ORPHA:289494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289494 4H leukodystrophy HP:0031206 ORPHA:289494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000256 ORPHA:2835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000271 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000272 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000336 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000337 ORPHA:2835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000767 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0001252 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0001263 ORPHA:2835 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0001800 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0002164 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0003196 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0004322 ORPHA:2835 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0005280 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0010669 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0011220 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000174 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000177 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000194 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000212 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000238 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000252 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000272 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000286 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000293 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000400 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000463 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000496 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000572 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0000648 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0001182 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0001250 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0001263 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0001272 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0001347 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0001371 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0001376 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0002119 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0002120 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0002132 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0002205 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0002329 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0002353 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0002521 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0002804 ORPHA:2836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0003196 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0004422 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0006829 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0007366 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0008572 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0010741 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0010864 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0011800 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0011968 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0012398 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0012469 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0100022 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2836 PEHO syndrome HP:0100540 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0000077 ORPHA:2838 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0000079 ORPHA:2838 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0000407 ORPHA:2838 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0000072 ORPHA:2838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0000126 ORPHA:2838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0010935 ORPHA:2838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0005775 ORPHA:2839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000062 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000126 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000171 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000175 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000238 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000347 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000480 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000482 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000612 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000890 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0001159 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0001591 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0001762 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0002324 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0002414 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0002515 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0002938 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0003083 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0003173 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0003175 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0003312 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0004322 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0005026 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0005613 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0005769 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0006077 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0006492 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0006710 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0006712 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0006713 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0007633 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0008472 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0008551 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0008807 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0008857 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0009100 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0009937 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0012745 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0000377 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2839 Pelvis-shoulder dysplasia HP:0100490 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1508 Coxoauricular syndrome HP:0000365 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1508 Coxoauricular syndrome HP:0000413 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1508 Coxoauricular syndrome HP:0002644 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1508 Coxoauricular syndrome HP:0002823 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1508 Coxoauricular syndrome HP:0002827 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1508 Coxoauricular syndrome HP:0002983 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1508 Coxoauricular syndrome HP:0004322 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1508 Coxoauricular syndrome HP:0004349 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1508 Coxoauricular syndrome HP:0008551 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000003 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000023 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000028 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000126 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000154 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000164 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000174 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000202 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000212 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000256 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000286 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000316 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000322 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000343 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000347 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000365 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000368 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000389 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000431 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000463 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000470 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000486 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000494 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000508 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000520 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000527 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000582 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000592 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000637 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000668 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000767 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000768 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000902 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000960 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001052 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001156 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001171 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001249 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001522 ORPHA:1507 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001537 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001596 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001629 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001631 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001636 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001641 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001679 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001702 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001770 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001852 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002007 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002205 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002263 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002650 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002714 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002808 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0003027 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0003042 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0003196 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0003272 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0003422 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0004209 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0004397 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0005048 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0005280 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0006101 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0007598 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0008736 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0008873 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0009882 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0010059 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0010296 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0010297 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0010804 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0010807 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0011069 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0011304 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0011800 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0012815 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0100490 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1507 Autosomal recessive Robinow syndrome HP:0100798 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0000174 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0000256 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0000368 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0000772 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0001511 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0002007 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0002644 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0003100 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000773 ORPHA:1505 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0010442 ORPHA:1505 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000774 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000888 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001511 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001561 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0003016 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0004599 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0005054 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0005257 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0008873 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0009106 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0009381 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0009826 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0010660 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0010675 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0011314 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000077 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000090 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000113 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000119 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000175 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000202 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000946 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000969 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001156 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001317 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001392 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001407 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001538 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001627 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001669 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0002006 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0002060 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0002589 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0002693 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0002867 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0002878 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0002983 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0003026 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0003180 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0005280 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0005469 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0005483 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0005736 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0005766 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0010454 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0010579 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0010880 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0011220 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0011849 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0025423 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0040163 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0100779 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0410030 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000047 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000476 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000488 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0000882 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001159 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001395 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0001696 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0002566 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0004349 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0006487 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0010766 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1505 Short rib-polydactyly syndrome HP:0100611 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001531 ORPHA:488627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000280 ORPHA:488627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001250 ORPHA:488627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001263 ORPHA:488627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000093 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000253 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002120 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002187 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002355 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002465 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0007052 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0007334 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0012213 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0012622 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000100 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000407 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000486 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000505 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000592 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000639 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000709 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000718 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000961 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001260 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001288 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001290 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001344 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001347 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001970 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002015 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002079 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002119 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002141 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002193 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002367 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002857 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0006956 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0006989 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0040329 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0100702 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0100814 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0000286 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0000303 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0000445 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0000457 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0001156 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0002812 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0002857 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0003196 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0003307 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0003312 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0004097 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0005687 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0005792 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0008905 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0010049 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0012368 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0100729 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0006744 ORPHA:1501 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0000080 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0000737 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0000739 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0000819 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0000822 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0000859 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0000975 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0000998 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0001065 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0001324 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0001824 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0001939 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0001962 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0002027 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0002900 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0003118 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0003466 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0004324 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0011748 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0012030 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0025134 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0025269 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0025380 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0025436 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0030078 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0030348 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0500022 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1501 Adrenocortical carcinoma HP:0003110 ORPHA:1501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0001877 ORPHA:288 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0004445 ORPHA:288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0005502 ORPHA:288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0000952 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0001744 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0001878 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0001923 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0002904 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0003265 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0004446 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0004447 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0004804 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0006579 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0001081 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0001789 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0001945 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0002007 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0002027 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0008897 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:288 Hereditary elliptocytosis HP:0025143 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0000962 ORPHA:79503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0001371 ORPHA:79503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0001581 ORPHA:79503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0007447 ORPHA:79503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0007460 ORPHA:79503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0008064 ORPHA:79503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0008404 ORPHA:79503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0011889 ORPHA:79503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000974 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001027 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001030 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001065 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001073 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001075 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002761 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000938 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001058 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001252 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001324 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002013 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002018 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002020 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0003394 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0003771 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0012378 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0012450 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000015 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000023 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000139 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000286 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000481 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000978 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000993 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001063 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001270 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001386 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001537 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001622 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001760 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001762 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001763 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001788 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002035 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002036 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002616 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002650 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002758 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002827 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002829 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002999 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0003010 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0003083 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0003834 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0004872 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0004944 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0004947 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0005294 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0006243 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0007495 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0009763 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0010749 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0010750 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0010754 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0025014 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0025019 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0025509 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0030009 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0031364 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0031653 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001278 ORPHA:287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001634 ORPHA:287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001653 ORPHA:287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001704 ORPHA:287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002315 ORPHA:287 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000008 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000028 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000039 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000047 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000069 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000072 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000077 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000164 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000190 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000233 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000486 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000668 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000684 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000691 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000774 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0000924 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001161 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001231 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001241 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001249 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001508 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001511 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001595 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001597 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001629 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001631 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001651 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001654 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001696 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001800 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0001829 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0002097 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0002164 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0002488 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0030680 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0002644 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0002750 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0002857 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0002967 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0002983 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0005048 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0005561 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0006695 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0006703 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0008678 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0008921 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0009882 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0010306 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0011065 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0011362 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289 Ellis Van Creveld syndrome HP:0011830 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002073 ORPHA:276193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0001260 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0001272 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0001310 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0001347 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002066 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002070 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002080 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002355 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0003487 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0000467 ORPHA:276193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0000473 ORPHA:276193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0000641 ORPHA:276193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002342 ORPHA:276193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0007024 ORPHA:276193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0000602 ORPHA:276193 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0000639 ORPHA:276193 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:276193 Spinocerebellar ataxia type 35 HP:0009830 ORPHA:276193 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0000639 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002061 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002171 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0006808 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0007210 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0010864 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0012447 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001251 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001252 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001260 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001344 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002421 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002540 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0004302 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0006511 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0007227 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0012043 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0030187 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0031954 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0040330 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0430015 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001321 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001508 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002355 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002878 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0004322 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0040288 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0003077 ORPHA:79506 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0003124 ORPHA:79506 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0010980 ORPHA:79506 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0012184 ORPHA:79506 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0012153 ORPHA:79506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0004416 ORPHA:79506 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0010874 ORPHA:79506 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001407 ORPHA:284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001880 ORPHA:284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0003565 ORPHA:284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0010702 ORPHA:284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0000952 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001410 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001903 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001945 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0002027 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0003419 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0010741 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0012378 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0025406 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0410019 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0000107 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0000766 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001824 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0002094 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0002105 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0002315 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0010766 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0011732 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0012735 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0025408 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0030151 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0031292 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0032445 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0100749 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0000775 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001250 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001251 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001260 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001269 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001409 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001697 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0001737 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0002013 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0002321 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0002381 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0002516 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0002613 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0002639 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0003468 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0010576 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0011805 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0012062 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0025487 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0040163 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0100016 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284 Alveolar echinococcosis HP:0100523 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000015 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000023 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000028 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000047 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000139 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000160 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000164 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000168 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000190 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000212 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000230 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000233 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000271 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000286 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000316 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000411 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000446 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000490 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000499 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000501 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000506 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000508 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000520 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000563 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000592 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000615 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000670 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000691 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000704 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000767 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000822 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000912 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000951 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000963 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000978 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000995 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001000 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001073 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001263 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001373 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001374 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001482 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001537 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001582 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001596 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001622 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001634 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001654 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001762 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001892 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002076 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002093 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002105 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002107 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002242 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002321 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002326 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0030680 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002617 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002619 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002642 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002647 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002705 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002758 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002797 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002900 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004322 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004372 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004937 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004942 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004947 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004970 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0005244 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0005294 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0005692 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0006323 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0007392 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0007495 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0007900 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0009906 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0010318 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0010535 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0010648 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0010719 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0011029 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0012368 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0012733 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100543 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100545 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100585 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100645 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100718 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100784 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100817 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100840 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000023 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000140 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000144 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000164 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000168 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000174 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000212 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000230 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000286 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000508 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000563 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000691 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000716 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000762 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000963 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000974 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000977 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000987 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001063 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001097 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001373 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001376 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001482 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001537 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001760 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001763 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002017 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002019 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002020 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002024 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002076 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002104 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002321 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002360 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002579 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002645 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002650 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002758 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002797 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002827 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002829 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0003019 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0003042 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0003326 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0003401 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0004970 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0005293 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0005294 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0005692 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0010318 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0011675 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0012378 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0012732 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0100550 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0100645 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0100823 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000028 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000047 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000077 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000078 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000079 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000153 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000159 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000175 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000204 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000252 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000268 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000286 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000288 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000316 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000322 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000347 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000348 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000365 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000368 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000389 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000431 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000485 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000486 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000488 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000494 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000508 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000520 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000612 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000639 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000647 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000648 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000668 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000765 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000776 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000902 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000925 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000939 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0000960 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001028 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001166 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001171 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001177 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001250 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001251 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001252 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001263 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001274 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001362 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001508 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001511 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001519 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001558 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001631 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001654 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001671 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001760 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0001762 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0002007 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0002144 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0002162 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0002205 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0002553 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0030680 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0002650 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0002714 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0002715 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0002750 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0002808 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0003312 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0003363 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0003468 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0005264 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0006655 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0006703 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0006709 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0007360 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0007385 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0008551 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0008830 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0009778 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0009890 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0010109 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0010864 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0100022 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280 Wolf-Hirschhorn syndrome HP:0100790 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome HP:0000501 ORPHA:2818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome HP:0001249 ORPHA:2818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome HP:0001257 ORPHA:2818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome HP:0010550 ORPHA:2818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0000953 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0001025 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0001053 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0001257 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0001288 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0001347 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0002167 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0002353 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0010550 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000023 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000218 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000252 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000286 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000308 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000311 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000316 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000368 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000384 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000431 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000470 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0000494 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0001252 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0001511 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0001608 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0001620 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0030680 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0002650 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0002757 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0004322 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0004348 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0005692 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0006101 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0010864 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0011344 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0200046 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281 Monosomy 5p HP:0200055 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0001029 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0002064 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0003400 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0003693 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0007020 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0007108 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0007141 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0011457 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001250 ORPHA:488635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001252 ORPHA:488635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0011344 ORPHA:488635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000750 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001265 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001321 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001388 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001510 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001999 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0002066 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0002079 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0002141 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0030047 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0031936 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000219 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000316 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000445 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000540 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000729 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001187 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001272 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001344 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001511 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001763 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0002069 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0002329 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0003394 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0005280 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0007258 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0008081 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0010510 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0011193 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0011968 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001256 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001268 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001328 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002079 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002191 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002385 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0003477 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0007141 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0007178 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0007340 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000639 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000708 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000712 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000736 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001152 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001251 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001260 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001288 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002015 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002120 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002354 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002540 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0003445 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0003482 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0006913 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0006956 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0007350 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0030455 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0030890 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000486 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000505 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000546 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000709 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000726 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001004 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001250 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001278 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001300 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001513 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001761 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002071 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002650 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0003693 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0006827 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0007183 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0009055 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0025058 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0025502 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0045007 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000340 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000347 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000348 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000483 ORPHA:2824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000508 ORPHA:2824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000639 ORPHA:2824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000982 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001156 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001166 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001231 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001249 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001257 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001258 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001347 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001348 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0002061 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0002209 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0003189 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0005692 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0010579 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0010620 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001319 ORPHA:488632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0003323 ORPHA:488632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0003444 ORPHA:488632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0006829 ORPHA:488632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000280 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000750 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001250 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001284 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001315 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001999 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002079 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002093 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002119 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002283 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002518 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002540 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0003119 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0003202 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0011344 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0031165 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000158 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000256 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000286 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000337 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000340 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000414 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000574 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000767 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000821 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000939 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001007 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001629 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002045 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002376 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002650 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002705 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002750 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0009826 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0010804 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0011198 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0100288 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0100543 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000011 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000028 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000252 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000303 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000343 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000407 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000431 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000470 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000486 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000490 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000582 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000639 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000664 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000717 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000824 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000836 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000878 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000964 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001500 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001540 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001562 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001642 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001837 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002099 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0004691 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0005487 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0007302 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0007957 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0011734 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0012547 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488632 TBCK-related intellectual disability syndrome HP:0030084 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0001260 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0001348 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0002342 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0007020 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0008185 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0010791 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0002063 ORPHA:2828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000716 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000738 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000741 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0001337 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0002172 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0100660 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000551 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000726 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000735 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000736 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000739 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0001257 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0001332 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0001347 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0002014 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0002018 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0002019 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0002067 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0002141 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0002578 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0003394 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0004409 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0012332 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0012452 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0025269 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0030014 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0040307 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0100543 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0100785 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000651 ORPHA:2828 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000713 ORPHA:2828 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0000727 ORPHA:2828 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2828 Young-onset Parkinson disease HP:0100710 ORPHA:2828 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002470 ORPHA:314978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0000486 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0001152 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0001270 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0001320 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0001321 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002078 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002080 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002312 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002317 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002345 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002359 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002464 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0008935 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0001249 ORPHA:314978 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0003487 ORPHA:314978 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0000365 ORPHA:276198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0001251 ORPHA:276198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0001260 ORPHA:276198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002070 ORPHA:276198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002078 ORPHA:276198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0000514 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0000622 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0001308 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0001310 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002355 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002380 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0003202 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0003487 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0007001 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0012473 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0000508 ORPHA:276198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0001347 ORPHA:276198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0000651 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002015 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002076 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002080 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002321 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002346 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002378 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002607 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0007018 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276198 Spinocerebellar ataxia type 36 HP:0045084 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0012382 ORPHA:99104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0031297 ORPHA:99104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0001962 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002875 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0003546 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0010772 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0012378 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0031634 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0031664 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0031687 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002092 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002094 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002326 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0005115 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0005133 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0011675 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0011710 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0030718 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0031972 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0000961 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0001279 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0001297 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0001708 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002090 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002718 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99104 Atrial septal defect, coronary sinus type HP:0005317 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0012382 ORPHA:99105 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0001962 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0002875 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0003546 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0010772 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0012378 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0031546 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0031663 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0031664 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0001692 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0002092 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0002094 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0004749 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0004755 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0005110 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0005115 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0005133 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0005180 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0006699 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0011700 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0011705 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0011712 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0011716 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0001297 ORPHA:99105 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0001635 ORPHA:99105 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0001907 ORPHA:99105 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99105 Atrial septal defect, sinus venosus type HP:0006536 ORPHA:99105 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0001653 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0001712 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0001962 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0002205 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0002875 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0004927 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0005133 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0005180 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0011705 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0011712 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0012248 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0012378 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0031595 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0031658 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0031662 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0031664 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0031687 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0000961 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0001279 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0001508 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0001635 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0001678 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0001694 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0001907 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0002092 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0002094 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0002105 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0002789 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0003546 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0004749 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0005110 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0002795 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0006536 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0012398 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0030718 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0031295 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0100759 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99106 Atrial septal defect, ostium primum type HP:0100760 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0000093 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0000112 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0000407 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0001249 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0001257 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0001288 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0001347 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0002167 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0010550 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0000822 ORPHA:2820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0003510 ORPHA:2820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0004209 ORPHA:2820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000086 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000175 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000232 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000252 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000324 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000347 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000365 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000384 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000402 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000407 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000431 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000463 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000465 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000470 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000482 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000486 ORPHA:233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000490 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000496 ORPHA:233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000508 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000526 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000567 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000581 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000612 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000615 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000639 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000643 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0000646 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0001053 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0001156 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0001177 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0001199 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0001250 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0001263 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0001357 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0001762 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0002162 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0030680 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0002984 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0003202 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0003298 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0003312 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0003974 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0005640 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0007400 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0007766 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0007818 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0007990 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0008572 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0009601 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0011365 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0011386 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0012246 ORPHA:233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0012385 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0012732 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:233 Duane retraction syndrome HP:0012745 ORPHA:233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0004870 ORPHA:232 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0001878 ORPHA:232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0002719 ORPHA:232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0012531 ORPHA:232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0000939 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0001743 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0001891 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0001894 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0001923 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0001974 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0002754 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0010885 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0011981 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0100749 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0000707 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0001396 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0002597 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0003259 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0008282 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0011904 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0012418 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0025435 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0001931 ORPHA:232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0001935 ORPHA:232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:232 Sickle cell anemia HP:0005518 ORPHA:232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000028 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000047 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000055 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000126 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000154 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000164 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000176 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000218 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000238 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000252 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000260 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000270 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000275 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000286 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000294 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000316 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000340 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000347 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000365 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000368 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000411 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000486 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000506 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000508 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000518 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000545 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000581 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000639 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000684 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000767 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000829 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000958 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000960 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000964 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000965 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0000992 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001000 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001156 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001231 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001249 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001250 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001363 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001511 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001770 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001773 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001800 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001840 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001852 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001873 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001874 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0001903 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002024 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002025 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002028 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002035 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002093 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002099 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002209 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002213 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0030680 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002650 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002664 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002665 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002719 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0002750 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0003298 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0004209 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0004322 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0005280 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0005338 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0005692 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0006721 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0007018 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0007370 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0008897 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0009601 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0009602 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0009738 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0009891 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0011304 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:235 Dubowitz syndrome HP:0200055 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0000952 ORPHA:234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0001080 ORPHA:234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0001392 ORPHA:234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0001928 ORPHA:234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0001945 ORPHA:234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0002027 ORPHA:234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0002240 ORPHA:234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0002908 ORPHA:234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0004295 ORPHA:234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0012086 ORPHA:234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:234 Dubin-Johnson syndrome HP:0012378 ORPHA:234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form HP:0000639 ORPHA:280224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form HP:0003429 ORPHA:280224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form HP:0001285 ORPHA:280224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form HP:0002342 ORPHA:280224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form HP:0010864 ORPHA:280224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0000988 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0000989 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0001369 ORPHA:231 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0001371 ORPHA:231 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0001376 ORPHA:231 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0001482 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0002014 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0002017 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0008066 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0011134 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0100326 ORPHA:231 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0100658 ORPHA:231 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0100758 ORPHA:231 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0100838 ORPHA:231 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231 Dracunculiasis HP:0200042 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001278 ORPHA:230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001488 ORPHA:230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0011979 ORPHA:230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0012384 ORPHA:230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001279 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001315 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001903 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001943 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002360 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0003138 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0003259 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0009020 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0012378 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0012877 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0000017 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0000622 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001252 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001944 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002013 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002014 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002045 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002094 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002321 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0003115 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0012670 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0100749 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0000842 ORPHA:230 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0000855 ORPHA:230 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2807 Papilloma of choroid plexus HP:0000238 ORPHA:2807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2807 Papilloma of choroid plexus HP:0000505 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2807 Papilloma of choroid plexus HP:0001250 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2807 Papilloma of choroid plexus HP:0001276 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2807 Papilloma of choroid plexus HP:0002664 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2807 Papilloma of choroid plexus HP:0004374 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2807 Papilloma of choroid plexus HP:0012639 ORPHA:2807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2807 Papilloma of choroid plexus HP:0100543 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2807 Papilloma of choroid plexus HP:0200022 ORPHA:2807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2808 Laryngeal abductor paralysis HP:0001601 ORPHA:2808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2808 Laryngeal abductor paralysis HP:0002093 ORPHA:2808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0003323 ORPHA:399096 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0009053 ORPHA:399096 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0002355 ORPHA:399096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0002515 ORPHA:399096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0003552 ORPHA:399096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0009046 ORPHA:399096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0030234 ORPHA:399096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0003693 ORPHA:399096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0003707 ORPHA:399096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0008997 ORPHA:399096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0009073 ORPHA:399096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0003201 ORPHA:399096 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:399096 Distal anoctaminopathy HP:0009049 ORPHA:399096 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0000311 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0000768 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0000962 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0001072 ORPHA:2812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0001182 ORPHA:2812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0001510 ORPHA:2812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0002093 ORPHA:2812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0002230 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0004322 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0006596 ORPHA:2812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0006610 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2812 Parana hard skin syndrome HP:0007440 ORPHA:2812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0000135 ORPHA:2815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0000407 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0000505 ORPHA:2815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0000518 ORPHA:2815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0000639 ORPHA:2815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0001251 ORPHA:2815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0001288 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0001347 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0002313 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0004322 ORPHA:2815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0004374 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0007328 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0100022 ORPHA:2815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0000965 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0001297 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0001640 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0001643 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0001659 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0001677 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0002616 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0002647 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0002875 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0004933 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0004944 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0004959 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0005162 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0004950 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0004950 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0004950 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0012163 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0012499 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0012763 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0100749 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229 Familial aortic dissection HP:0200146 ORPHA:229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0000639 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0000750 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001251 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001256 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001263 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0006808 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0011203 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0031936 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0040330 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001252 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001257 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001285 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001332 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002167 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002305 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002346 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002355 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002421 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0007256 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0007377 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0008936 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0025336 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0030187 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0100543 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002071 ORPHA:280219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002310 ORPHA:280219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0031954 ORPHA:280219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226 Dihydropteridine reductase deficiency HP:0000252 ORPHA:226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226 Dihydropteridine reductase deficiency HP:0001249 ORPHA:226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226 Dihydropteridine reductase deficiency HP:0001263 ORPHA:226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226 Dihydropteridine reductase deficiency HP:0002015 ORPHA:226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0000083 ORPHA:225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0000093 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0000407 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0000488 ORPHA:225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0000505 ORPHA:225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0000518 ORPHA:225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0000532 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0000544 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0000822 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0001251 ORPHA:225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0001324 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0001635 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0001639 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0002019 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0002024 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0003119 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0003326 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0005978 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0007360 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0007754 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0011675 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225 Maternally-inherited diabetes and deafness HP:0100820 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0000048 ORPHA:227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0000119 ORPHA:227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0100599 ORPHA:227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0000047 ORPHA:227 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0002023 ORPHA:227 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0008706 ORPHA:227 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0030275 ORPHA:227 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0100600 ORPHA:227 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0000023 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0000028 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0000039 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0000073 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0000075 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0000085 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0001627 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0001631 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0002836 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0003172 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0004712 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0008669 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0010475 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0011024 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0011140 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0002650 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0002937 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0003316 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0004792 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0005223 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227 Diphallia HP:0009777 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:222 Erosive pustular dermatosis of the scalp HP:0001595 ORPHA:222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:222 Erosive pustular dermatosis of the scalp HP:0004552 ORPHA:222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:222 Erosive pustular dermatosis of the scalp HP:0010783 ORPHA:222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:222 Erosive pustular dermatosis of the scalp HP:0200039 ORPHA:222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:222 Erosive pustular dermatosis of the scalp HP:0200041 ORPHA:222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0000492 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0000934 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0000958 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0000969 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0000989 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0000992 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001063 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001252 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001369 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001597 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001608 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001618 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001658 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001701 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001824 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001879 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0001945 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0002092 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0002093 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0002205 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0002206 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0002207 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0002633 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0002664 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0002665 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0002829 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0002960 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0003002 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0003326 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0003457 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0003701 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0006530 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0008065 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0008872 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0009071 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0010783 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0011362 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0011675 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0011703 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0012378 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0012819 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0030078 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0100539 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0100585 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0100658 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0100723 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0100758 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0200034 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221 Dermatomyositis HP:0200042 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0004322 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0011106 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0011968 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0001263 ORPHA:223 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0001561 ORPHA:223 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0010677 ORPHA:223 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0009806 ORPHA:223 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0003158 ORPHA:223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0003228 ORPHA:223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0004906 ORPHA:223 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0001508 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0001945 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0001959 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0002017 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0002019 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0002039 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0000009 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0000072 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0000083 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0001250 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:223 Nephrogenic diabetes insipidus HP:0001510 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0003134 ORPHA:280234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0003429 ORPHA:280234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0007108 ORPHA:280234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0011096 ORPHA:280234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0000762 ORPHA:280234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0001251 ORPHA:280234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0002355 ORPHA:280234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0007020 ORPHA:280234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0000648 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0001317 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0002342 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0002478 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0002540 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0012758 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280234 Null syndrome HP:0000639 ORPHA:280234 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:220 Denys-Drash syndrome HP:0000037 ORPHA:220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220 Denys-Drash syndrome HP:0000093 ORPHA:220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220 Denys-Drash syndrome HP:0000100 ORPHA:220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220 Denys-Drash syndrome HP:0000112 ORPHA:220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220 Denys-Drash syndrome HP:0002667 ORPHA:220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220 Denys-Drash syndrome HP:0000822 ORPHA:220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220 Denys-Drash syndrome HP:0000133 ORPHA:220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0002936 ORPHA:399081 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0003458 ORPHA:399081 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0006466 ORPHA:399081 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0009005 ORPHA:399081 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0009063 ORPHA:399081 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0001430 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0002166 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0002355 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0003376 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0006844 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0006937 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0008954 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0009031 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0040081 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0003438 ORPHA:399081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0003477 ORPHA:399081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0002505 ORPHA:399081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000028 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000135 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000164 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000176 ORPHA:178303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000252 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000298 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000327 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000343 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000369 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000377 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000431 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000457 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000470 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000506 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0045075 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000581 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0000653 ORPHA:178303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0001263 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0001363 ORPHA:178303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0001376 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0001852 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0002553 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0005288 ORPHA:178303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0006101 ORPHA:178303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0006610 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0008577 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0009738 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0010720 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0010781 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0100024 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0100490 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178303 8q22.1 microdeletion syndrome HP:0100679 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0002312 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0002355 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0002936 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0003376 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0003458 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0003805 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0008180 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0008954 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0009005 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0009031 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0009063 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0009473 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0012548 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0001171 ORPHA:399086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0009073 ORPHA:399086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0001638 ORPHA:399086 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0000164 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0000256 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0000365 ORPHA:2801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0000648 ORPHA:2801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0000768 ORPHA:2801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0000822 ORPHA:2801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0000889 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0000939 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0000995 ORPHA:2801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0001482 ORPHA:2801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0002149 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0002757 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0004322 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0004437 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0006487 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0007703 ORPHA:2801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2801 Juvenile Paget disease HP:0100670 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0000639 ORPHA:2802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001251 ORPHA:2802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001903 ORPHA:2802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0002167 ORPHA:2802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001263 ORPHA:2802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001347 ORPHA:2802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0100022 ORPHA:2802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0000486 ORPHA:2802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001252 ORPHA:2802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001511 ORPHA:2802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0002650 ORPHA:2802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0000176 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0000316 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0000455 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0000494 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0000506 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0001061 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0001137 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0001257 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0001263 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0001761 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0001763 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0001840 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0002069 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0002967 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0002986 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0003022 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0003042 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0005280 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0006293 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0010809 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0011220 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0012385 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0030084 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0100037 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2804 W syndrome HP:0100268 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0002362 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0003691 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0008948 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0008956 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0009055 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0010628 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0000982 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0000989 ORPHA:218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0001000 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0001034 ORPHA:218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0001072 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0001595 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0001597 ORPHA:218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0005212 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0008410 ORPHA:218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0010612 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0012733 ORPHA:218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0200016 ORPHA:218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:218 Darier disease HP:0200037 ORPHA:218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0005306 ORPHA:168984 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0031487 ORPHA:168984 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0001052 ORPHA:168984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0001528 ORPHA:168984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0001548 ORPHA:168984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0100764 ORPHA:168984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0000324 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0001004 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0001508 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0002619 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0004099 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0012721 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0100553 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0100554 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0100555 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0000098 ORPHA:168984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0000767 ORPHA:168984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0000774 ORPHA:168984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0003005 ORPHA:168984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168984 CLAPO syndrome HP:0001249 ORPHA:168984 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0000639 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0000666 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001252 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0000011 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0000316 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0000490 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001268 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001273 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001288 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001347 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001510 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002061 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002167 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002197 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002313 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002355 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002376 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002540 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0003429 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0003487 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0007413 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0010936 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0011342 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0011343 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0011800 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0030784 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0030890 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0032044 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0032588 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0000545 ORPHA:215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0000662 ORPHA:215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0007663 ORPHA:215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0030469 ORPHA:215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0000486 ORPHA:215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0000639 ORPHA:215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0030638 ORPHA:215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0030639 ORPHA:215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0000540 ORPHA:215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0007984 ORPHA:215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0030483 ORPHA:215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0031705 ORPHA:215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0000551 ORPHA:215 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0007703 ORPHA:215 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:215 Congenital stationary night blindness HP:0030329 ORPHA:215 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:214 Cystinuria HP:0000083 ORPHA:214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:214 Cystinuria HP:0000787 ORPHA:214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:214 Cystinuria HP:0000790 ORPHA:214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:214 Cystinuria HP:0002149 ORPHA:214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:214 Cystinuria HP:0004337 ORPHA:214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217 Isolated Dandy-Walker malformation HP:0000175 ORPHA:217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217 Isolated Dandy-Walker malformation HP:0000269 ORPHA:217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217 Isolated Dandy-Walker malformation HP:0001305 ORPHA:217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217 Isolated Dandy-Walker malformation HP:0001626 ORPHA:217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217 Isolated Dandy-Walker malformation HP:0001636 ORPHA:217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217 Isolated Dandy-Walker malformation HP:0002007 ORPHA:217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217 Isolated Dandy-Walker malformation HP:0002084 ORPHA:217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217 Isolated Dandy-Walker malformation HP:0002691 ORPHA:217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217 Isolated Dandy-Walker malformation HP:0007370 ORPHA:217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001332 ORPHA:255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0000708 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001288 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001337 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0000712 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002063 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002355 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002360 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002540 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0003785 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0010553 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0031959 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0040207 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0000716 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0000722 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0000736 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0000737 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0000739 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0000756 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0000975 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001250 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001254 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001260 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001270 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001300 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001350 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002013 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002019 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002071 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002119 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002172 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002370 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002375 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002376 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002421 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0002493 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0003473 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0003781 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0007325 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0008936 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0011344 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0012378 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0012433 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0012531 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0012704 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0025269 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001263 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0031960 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0000020 ORPHA:255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001298 ORPHA:255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0001945 ORPHA:255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0010818 ORPHA:255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:255 Dopa-responsive dystonia HP:0012448 ORPHA:255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0000597 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0000602 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0001596 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0001804 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0001812 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0002300 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0002381 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0002381 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0003198 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0010529 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0010547 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0012246 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0200037 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0000508 ORPHA:257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0000682 ORPHA:257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0004334 ORPHA:257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0008065 ORPHA:257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0200034 ORPHA:257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0003473 ORPHA:257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0012378 ORPHA:257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:256 Early-onset generalized limb-onset dystonia HP:0001276 ORPHA:256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:256 Early-onset generalized limb-onset dystonia HP:0001288 ORPHA:256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:256 Early-onset generalized limb-onset dystonia HP:0001608 ORPHA:256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:256 Early-onset generalized limb-onset dystonia HP:0003011 ORPHA:256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:256 Early-onset generalized limb-onset dystonia HP:0100022 ORPHA:256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000098 ORPHA:300373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000845 ORPHA:300373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000870 ORPHA:300373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0012503 ORPHA:300373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0030269 ORPHA:300373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000280 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000975 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0001072 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0002591 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0002893 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0004924 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0008283 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0010535 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0025163 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0025267 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0031098 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0031418 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000135 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000699 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000823 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000873 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000924 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000956 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0001123 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0001176 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0001250 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0001251 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0001626 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0001833 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0002315 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0003270 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0011748 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0012505 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0040075 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0000707 ORPHA:300373 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:300373 X-linked acrogigantism HP:0001249 ORPHA:300373 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000028 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000133 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000252 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000278 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000280 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000286 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000316 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000320 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000411 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000482 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000483 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000486 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000509 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000519 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000545 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000546 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000565 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000601 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000608 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000613 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000639 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000656 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000670 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000938 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000958 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000964 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0000992 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001097 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001197 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001217 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001257 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001260 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001263 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001265 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001276 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001290 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001338 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001363 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001373 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001511 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001537 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001598 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001618 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001629 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001638 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001807 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001808 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001809 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001875 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001903 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002066 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002080 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002119 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002120 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002197 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002209 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002293 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002299 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002562 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002705 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002719 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002750 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002828 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002860 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0002942 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0003079 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0003139 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0006297 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0006538 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0006970 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0007034 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0007256 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0007266 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0007381 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0007495 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0007485 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0007587 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0007633 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0008064 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0008386 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0008391 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0008619 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0009830 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0010551 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0011001 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0012760 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0001263 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0025428 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0025548 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0045055 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0100275 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33364 Trichothiodystrophy HP:0410219 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0000958 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0001231 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0002213 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0006323 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0008388 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0000685 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0000966 ORPHA:248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0001595 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0001596 ORPHA:248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0006482 ORPHA:248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0010734 ORPHA:249 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000929 ORPHA:249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002797 ORPHA:249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0003330 ORPHA:249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0009121 ORPHA:249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0040064 ORPHA:249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000277 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000326 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002148 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002653 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002748 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002753 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002756 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002823 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0003155 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0005731 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0006487 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0010657 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0010668 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0011821 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0031955 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000772 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000889 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002355 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002650 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002696 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002749 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002812 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002818 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002992 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0040071 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0003063 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0003319 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0004302 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0004322 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0006316 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0009911 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0012294 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0040163 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0100559 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0100712 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0430000 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0430022 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000138 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000365 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000572 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000818 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000819 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000836 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0000845 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002669 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0002890 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0003072 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0003118 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0003401 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0005605 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0007565 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0010465 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0010514 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0010788 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0030428 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:249 Fibrous dysplasia of bone HP:0100013 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0000389 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0000403 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0001742 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0002257 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0002643 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0003251 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0005425 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0011109 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0011947 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0012206 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0031245 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0032016 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0100582 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0000119 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0000365 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0000405 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0000750 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0000924 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0001217 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0001627 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0001696 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0002011 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0002110 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0006536 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0008222 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0011274 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0011617 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0025177 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0030680 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0030828 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0032543 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0100750 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0000238 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0000510 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0001669 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0001719 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0001746 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0001748 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0002119 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0002566 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0002878 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0005301 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0010772 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0011535 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0011539 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244 Primary ciliary dyskinesia HP:0025576 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0000133 ORPHA:243 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0008209 ORPHA:243 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0008209 ORPHA:243 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0000144 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0000786 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0000823 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0000837 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0008214 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0009888 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0000938 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0002225 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0002750 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0004349 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0005625 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0008684 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0010311 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0010464 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0000365 ORPHA:243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0000869 ORPHA:243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0001939 ORPHA:243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0004322 ORPHA:243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0000252 ORPHA:243 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0001166 ORPHA:243 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0001251 ORPHA:243 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0002206 ORPHA:243 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:243 46,XX gonadal dysgenesis HP:0000062 ORPHA:243 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0000175 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0000272 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0000347 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0000368 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0000370 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0000378 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0000405 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0000486 ORPHA:246 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0000494 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0000625 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0002558 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0030680 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0002984 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0003022 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0006101 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0007477 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0007651 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0008551 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0100335 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:246 Postaxial acrofacial dysostosis HP:0100490 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000122 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000154 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000174 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000175 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000327 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000347 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000365 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000368 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000413 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000494 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000508 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000652 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0000750 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0001199 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0001387 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0002093 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0030680 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0002652 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0002814 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0002984 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0005105 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0006501 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0007776 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0008551 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0009601 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0009829 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0010669 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0100335 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:245 Nager syndrome HP:0100840 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0000431 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0000944 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0001156 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0001191 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0001387 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0001804 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002644 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002683 ORPHA:240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002818 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002823 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002857 ORPHA:240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002970 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002982 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002983 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002984 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002986 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0002992 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0040071 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0003022 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0003027 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0003031 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0003042 ORPHA:240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0003063 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0003067 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0003272 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0004209 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0005019 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0005280 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0005736 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0005930 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0006248 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0006443 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0006459 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0008873 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0010579 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0010624 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240 Léri-Weill dyschondrosteosis HP:0100777 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228277 Familial anetoderma HP:0200034 ORPHA:228277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228277 Familial anetoderma HP:0002705 ORPHA:228277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228277 Familial anetoderma HP:0002761 ORPHA:228277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228277 Familial anetoderma HP:0002938 ORPHA:228277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228277 Familial anetoderma HP:0002992 ORPHA:228277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228277 Familial anetoderma HP:0040079 ORPHA:228277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:242 46,XY complete gonadal dysgenesis HP:0000037 ORPHA:242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:242 46,XY complete gonadal dysgenesis HP:0000044 ORPHA:242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:242 46,XY complete gonadal dysgenesis HP:0000147 ORPHA:242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:242 46,XY complete gonadal dysgenesis HP:0008715 ORPHA:242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:241 Dyschromatosis universalis hereditaria HP:0000365 ORPHA:241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:241 Dyschromatosis universalis hereditaria HP:0000992 ORPHA:241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:241 Dyschromatosis universalis hereditaria HP:0001034 ORPHA:241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:241 Dyschromatosis universalis hereditaria HP:0001053 ORPHA:241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:241 Dyschromatosis universalis hereditaria HP:0001480 ORPHA:241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:241 Dyschromatosis universalis hereditaria HP:0004322 ORPHA:241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:241 Dyschromatosis universalis hereditaria HP:0005590 ORPHA:241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:241 Dyschromatosis universalis hereditaria HP:0007565 ORPHA:241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:241 Dyschromatosis universalis hereditaria HP:0012733 ORPHA:241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0011763 ORPHA:300385 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0000870 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0002315 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0003154 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0006767 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0008291 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0100836 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0007663 ORPHA:300385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0007987 ORPHA:300385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0012377 ORPHA:300385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0012505 ORPHA:300385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0040075 ORPHA:300385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0000365 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0000845 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0001251 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0010514 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0011442 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0011760 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0100561 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0000873 ORPHA:300385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0011759 ORPHA:300385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:300385 Pituitary carcinoma HP:0011762 ORPHA:300385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0012363 ORPHA:263494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0001315 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0001324 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0001644 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0001763 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0002187 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0002401 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0002910 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0003487 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0003560 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0003749 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0003805 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0008331 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0008981 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263494 DPM3-CDG HP:0100749 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0011354 ORPHA:167635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0031047 ORPHA:167635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0200034 ORPHA:167635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0000271 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0000464 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0001072 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0001155 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0002015 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0002056 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0002829 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0002973 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0003198 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0003236 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0003701 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0011838 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0025512 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0030053 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0000077 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0000160 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0000989 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0001250 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0001298 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0001626 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0002020 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0002088 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0002460 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0002875 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0003326 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0008509 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0011024 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0011805 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0030178 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0030880 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0100771 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0001259 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0001297 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0002326 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0006704 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0006775 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0030966 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:167635 Scleromyxedema HP:0002926 ORPHA:167635 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0010541 ORPHA:357225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0000290 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0000519 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0001250 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0001263 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0002171 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0006889 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0006970 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0030455 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0000252 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0001298 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0001629 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0001631 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0002650 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0007663 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0010562 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0000365 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0000389 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0000988 ORPHA:33355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0001508 ORPHA:33355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0001824 ORPHA:33355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0001874 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0001882 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0001903 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0001944 ORPHA:33355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0001945 ORPHA:33355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0002014 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0002024 ORPHA:33355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0002205 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0003287 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0004313 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0004430 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0005374 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0010515 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0100806 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33355 Reticular dysgenesis HP:0200042 ORPHA:33355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0000039 ORPHA:237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0000047 ORPHA:237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0000076 ORPHA:237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0012732 ORPHA:237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0000010 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0000020 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0000041 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0000048 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0000054 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0001153 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0001543 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0002023 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0003244 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0003762 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0008635 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0008665 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0008706 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0008743 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0010447 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0012227 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0012531 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0012583 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0025407 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0025489 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0100518 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:237 Duplication of urethra HP:0100519 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000248 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000252 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000316 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000400 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000411 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000470 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000490 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000494 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000615 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000678 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0000960 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0001156 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0001249 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0001263 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0001800 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0001804 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0002650 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0002714 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0002808 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0004209 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0005105 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0006610 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0007477 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0007598 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0011079 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0100335 ORPHA:236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:236 Trisomy 9p HP:0100798 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001249 ORPHA:239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001508 ORPHA:239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002651 ORPHA:239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003521 ORPHA:239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000252 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000280 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000470 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000768 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000885 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000925 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000926 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000946 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001270 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002355 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002652 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002656 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003026 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003090 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003183 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003272 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003274 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003368 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003510 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003690 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0004568 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0005106 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0006429 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0008786 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0008905 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0010306 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0010864 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0031233 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0040163 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0100255 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000750 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000752 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001256 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001285 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001347 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001377 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001538 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002359 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002465 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002540 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002747 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002788 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002812 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002857 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003028 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003066 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003311 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003467 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003698 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0004242 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0006633 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0031987 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000365 ORPHA:239 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0007957 ORPHA:239 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:239 Dyggve-Melchior-Clausen disease HP:0012379 ORPHA:239 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:228240 Elastoderma HP:0200034 ORPHA:228240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228240 Elastoderma HP:0200036 ORPHA:228240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228240 Elastoderma HP:0100963 ORPHA:228240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228240 Elastoderma HP:0000964 ORPHA:228240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228240 Elastoderma HP:0001055 ORPHA:228240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228240 Elastoderma HP:0000973 ORPHA:228240 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:228240 Elastoderma HP:0100678 ORPHA:228240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0003027 ORPHA:97360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0004322 ORPHA:97360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000316 ORPHA:97360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0001518 ORPHA:97360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0003086 ORPHA:97360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0003241 ORPHA:97360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0005011 ORPHA:97360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000028 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000046 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000054 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000059 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000060 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000126 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000187 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000202 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000207 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000212 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000256 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000343 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000347 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000358 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000369 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000454 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000455 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000463 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000520 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000668 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000678 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000689 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000692 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000902 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000921 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0001156 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0001159 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0001627 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0001629 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0001631 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0001642 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0001680 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0001792 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0002007 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0002164 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0002650 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0002751 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0002937 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0003196 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0005280 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0006439 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0009611 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0009882 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0009890 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0010296 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0010297 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0010882 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0011662 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0011800 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0030039 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0030264 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000003 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0000410 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0001537 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0006291 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0006335 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0012758 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97360 Robinow syndrome HP:0040171 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0002573 ORPHA:209964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0002027 ORPHA:209964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0002254 ORPHA:209964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0012450 ORPHA:209964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0500005 ORPHA:209964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0000002 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0000722 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0001903 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0002035 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0002574 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0004325 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0012390 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0012702 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0025085 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0025086 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209964 Solitary rectal ulcer syndrome HP:0012425 ORPHA:209964 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0000256 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0000589 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0000750 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0000855 ORPHA:199276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0001250 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0001548 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0001702 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0002079 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0002119 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0002514 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0002885 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0006487 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0003077 ORPHA:199276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0009830 ORPHA:199276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0005249 ORPHA:199276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0005616 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0006337 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0009125 ORPHA:199276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0009126 ORPHA:199276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0010603 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0012424 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199276 Familial multiple lipomatosis HP:0100702 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000750 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001252 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001270 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001382 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001511 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001773 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0200055 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000826 ORPHA:254531 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001513 ORPHA:254531 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0008897 ORPHA:254531 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0011220 ORPHA:254531 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0011968 ORPHA:254531 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000218 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000322 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000347 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000403 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000445 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000729 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000735 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000817 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001249 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0002650 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0003124 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0004673 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0004904 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0007010 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0008947 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0030084 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0000089 ORPHA:97362 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0000076 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0000093 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0000107 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0000822 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0001562 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0002009 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0011968 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0012213 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0012622 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0000028 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0000483 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0000540 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0000639 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0000969 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0001254 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0001508 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0001510 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0001518 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0001622 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0001903 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0001942 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0002153 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0002643 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0002902 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0002907 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0003076 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0004322 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0012758 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0025466 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97362 Renal hypoplasia, bilateral HP:0100520 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000750 ORPHA:263487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0001270 ORPHA:263487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0008947 ORPHA:263487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000252 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000358 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000369 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000448 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0004322 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0010864 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000011 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000020 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000028 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000054 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000218 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000278 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000407 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000431 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000470 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000486 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000599 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0000729 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0001250 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0001256 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0001272 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0001348 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0001433 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0001511 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0001562 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0002078 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0002240 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0002342 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0002506 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0002857 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0002910 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0003160 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0006956 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0007366 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0009473 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0011471 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0012444 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0012448 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0012762 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0040019 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0100490 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0100678 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263487 COG5-CDG HP:0100704 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001256 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001263 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001561 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0005257 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0006267 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0006665 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0008872 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001252 ORPHA:254534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001520 ORPHA:254534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001540 ORPHA:254534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0002033 ORPHA:254534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0008897 ORPHA:254534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001518 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001537 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001539 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001548 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001627 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001629 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0002194 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178333 Åland Islands eye disease HP:0000483 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178333 Åland Islands eye disease HP:0000512 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178333 Åland Islands eye disease HP:0000545 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178333 Åland Islands eye disease HP:0000551 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178333 Åland Islands eye disease HP:0000639 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178333 Åland Islands eye disease HP:0007663 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178333 Åland Islands eye disease HP:0007750 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178333 Åland Islands eye disease HP:0007894 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178333 Åland Islands eye disease HP:0030513 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0001618 ORPHA:399058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0002015 ORPHA:399058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0009063 ORPHA:399058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0000467 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0001265 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003325 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003327 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003458 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003557 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003736 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0009027 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0030225 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0040081 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0100020 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0100299 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0001349 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0001638 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0002355 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0002747 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003552 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0009073 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000253 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000347 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000938 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001263 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001290 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001321 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001344 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001508 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001999 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002058 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002123 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002421 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002650 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0003236 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0003642 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0005781 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0007179 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0011169 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0200134 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000218 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000219 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000243 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000294 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000486 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000601 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000648 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000689 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001561 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001976 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002002 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002098 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002205 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002240 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002518 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002910 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0003196 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0003241 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0010851 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0012762 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0040288 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0001300 ORPHA:97355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0002063 ORPHA:97355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0002067 ORPHA:97355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0000511 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0000571 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0000726 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0000727 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0000738 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0001278 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0001332 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0001336 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0002119 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0002120 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0002172 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0002186 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0002193 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0002345 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0002360 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0012332 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0003458 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0005341 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0007045 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0007240 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0010549 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0012753 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0030902 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97355 Caribbean parkinsonism HP:0100315 ORPHA:97355 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0000613 ORPHA:209967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0001251 ORPHA:209967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0002017 ORPHA:209967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0002321 ORPHA:209967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0002183 ORPHA:209967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0000640 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0000651 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0001250 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0001272 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0001350 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0002076 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0002301 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0002315 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209967 Episodic ataxia type 6 HP:0007663 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001249 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001263 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001347 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001371 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002460 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002540 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002987 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0006380 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0006466 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0007350 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0012453 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000154 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000158 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001257 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001344 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002079 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0003487 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000218 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000322 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000377 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000574 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000664 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000666 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001250 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001583 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002015 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002166 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002378 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0003273 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0003306 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0005830 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0005997 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0011448 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0100712 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199267 Infantile digital fibromatosis HP:0200036 ORPHA:199267 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:199267 Infantile digital fibromatosis HP:0000962 ORPHA:199267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199267 Infantile digital fibromatosis HP:0001036 ORPHA:199267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199267 Infantile digital fibromatosis HP:0025092 ORPHA:199267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199267 Infantile digital fibromatosis HP:0012531 ORPHA:199267 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0000010 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0000509 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0000613 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0000962 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0001369 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0001386 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0001387 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0001597 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0001659 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0001701 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0001824 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0001945 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0002014 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0002027 ORPHA:29207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0002037 ORPHA:29207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0002093 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0002103 ORPHA:29207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0002206 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0002754 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0002829 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0008391 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0011107 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0100543 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0100686 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0100773 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29207 Reactive arthritis HP:0200039 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0000750 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001252 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001270 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001773 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0008897 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0200055 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001319 ORPHA:254525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001511 ORPHA:254525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0011220 ORPHA:254525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0000119 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0000347 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0000368 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0000826 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001249 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001513 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001627 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0002714 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0004482 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0007010 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0008872 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0030084 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0031878 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001263 ORPHA:254528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001561 ORPHA:254528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0005257 ORPHA:254528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0006665 ORPHA:254528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0011968 ORPHA:254528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000023 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001371 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001388 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001537 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001540 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0002878 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0006267 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0008897 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000126 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000158 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000194 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000278 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000286 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000337 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000341 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000463 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000565 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000767 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000884 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000954 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001239 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001252 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001539 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001601 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001845 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0002263 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0005280 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0005989 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0010511 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0012385 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0012785 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0045025 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001511 ORPHA:254528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0001270 ORPHA:314918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0001328 ORPHA:314918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0002465 ORPHA:314918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0011342 ORPHA:314918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0012379 ORPHA:314918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0000256 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0000510 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0000750 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0001250 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0001252 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0001347 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0002421 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0002493 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0003487 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0012751 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314918 Mild Canavan disease HP:0040196 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0012379 ORPHA:171706 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0002925 ORPHA:171706 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0031506 ORPHA:171706 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0032210 ORPHA:171706 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0000508 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0000736 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0001249 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0001510 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0001513 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0002750 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0003162 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0003391 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0004322 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0008994 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0009053 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0012548 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0031903 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0040214 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0001274 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0001321 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0002098 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0002119 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0002126 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0002719 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0011451 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0000572 ORPHA:209959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0200026 ORPHA:209959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0500081 ORPHA:209959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0000491 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0000613 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0000615 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0000622 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0007773 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0011488 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0012122 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0012123 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0025337 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0030953 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0004327 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0007906 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0007917 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0008030 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0011484 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0011505 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0011531 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0011886 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0012040 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0012121 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0025341 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0025561 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0030485 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0030486 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0031615 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0031618 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209959 Phacoanaphylactic uveitis HP:0040049 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0000256 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001252 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001263 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001270 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001344 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0002421 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0002540 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0004302 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0025053 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0025405 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0000648 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0000737 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001250 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001254 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001347 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001387 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001612 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0002013 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0002020 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0002033 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0002069 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0002360 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0003487 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0011968 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0012762 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0200136 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0000618 ORPHA:314911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001257 ORPHA:314911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0001355 ORPHA:314911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0040288 ORPHA:314911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0002200 ORPHA:314911 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0011471 ORPHA:314911 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314911 Severe Canavan disease HP:0025013 ORPHA:314911 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002322 ORPHA:97349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0001945 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002067 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002329 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002396 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002465 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0003324 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0003487 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0004305 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0007256 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0010553 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0000194 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0000496 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0000514 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0000716 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0001250 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0001260 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0001488 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002013 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002015 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002063 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002304 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002315 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002381 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002374 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002795 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0002808 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0003401 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0005329 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0006801 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0006919 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0008765 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0011446 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0012735 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0025331 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0025456 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0030188 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0040082 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0045007 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0100595 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97349 Postencephalitic parkinsonism HP:0200149 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0000591 ORPHA:209956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0002922 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0004328 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0007663 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0012231 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0025339 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0030823 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0031526 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0000568 ORPHA:209956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0000622 ORPHA:209956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0001123 ORPHA:209956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0008052 ORPHA:209956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0012508 ORPHA:209956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209956 Idiopathic uveal effusion syndrome HP:0012632 ORPHA:209956 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:211 Familial cylindromatosis HP:0001482 ORPHA:211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:211 Familial cylindromatosis HP:0100585 ORPHA:211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0000093 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0000112 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0000124 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0000613 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0000733 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0000821 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0000823 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0001324 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0001508 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0001944 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0001959 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0002013 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0002148 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0002900 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0003198 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0003355 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0004322 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0007957 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0009806 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0012378 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0100651 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0000083 ORPHA:213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0000488 ORPHA:213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0002748 ORPHA:213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0000505 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0001256 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0001288 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0001409 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0001945 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0002024 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0002381 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0006824 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:213 Cystinosis HP:0007256 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000505 ORPHA:98673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000648 ORPHA:98673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000407 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000551 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000602 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0007141 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0012511 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0025514 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0030515 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000508 ORPHA:98673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000603 ORPHA:98673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001251 ORPHA:98673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001288 ORPHA:98673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0003198 ORPHA:98673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000135 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000518 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000639 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000726 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000738 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000819 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000821 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001250 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001257 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001258 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001263 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001269 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001272 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001284 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001761 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001972 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0002015 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0002076 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0002135 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0002518 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0003202 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0003326 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0003691 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0007366 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0007371 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0009921 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0011968 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0012378 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0030319 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0100543 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:212 Cystathioninuria HP:0003153 ORPHA:212 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:212 Cystathioninuria HP:0001249 ORPHA:212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:212 Cystathioninuria HP:0001250 ORPHA:212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:212 Cystathioninuria HP:0003286 ORPHA:212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:212 Cystathioninuria HP:0000787 ORPHA:212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:212 Cystathioninuria HP:0001337 ORPHA:212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:212 Cystathioninuria HP:0001762 ORPHA:212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:212 Cystathioninuria HP:0008572 ORPHA:212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97341 Persistent placoid maculopathy HP:0007663 ORPHA:97341 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:97341 Persistent placoid maculopathy HP:0011506 ORPHA:97341 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:97341 Persistent placoid maculopathy HP:0001103 ORPHA:97341 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97341 Persistent placoid maculopathy HP:0000646 ORPHA:97341 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97341 Persistent placoid maculopathy HP:0007750 ORPHA:97341 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97341 Persistent placoid maculopathy HP:0007814 ORPHA:97341 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97341 Persistent placoid maculopathy HP:0010822 ORPHA:97341 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97341 Persistent placoid maculopathy HP:0012508 ORPHA:97341 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199251 Ledderhose disease HP:0001482 ORPHA:199251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199251 Ledderhose disease HP:0002829 ORPHA:199251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199251 Ledderhose disease HP:0003401 ORPHA:199251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199251 Ledderhose disease HP:0009830 ORPHA:199251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199251 Ledderhose disease HP:0100679 ORPHA:199251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209981 IRIDA syndrome HP:0000980 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209981 IRIDA syndrome HP:0001249 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209981 IRIDA syndrome HP:0002242 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209981 IRIDA syndrome HP:0008064 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209981 IRIDA syndrome HP:0009830 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209981 IRIDA syndrome HP:0001406 ORPHA:209981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209981 IRIDA syndrome HP:0011967 ORPHA:209981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209981 IRIDA syndrome HP:0000962 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0000316 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0001156 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0001371 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0001552 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0002515 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0002650 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0002829 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0002857 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0002945 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0002967 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0003037 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0003312 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0003521 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0008905 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0009811 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0010582 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0010585 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0045075 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0000337 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0000343 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0000684 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0001270 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0002553 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0002751 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0010049 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263463 CHST3-related skeletal dysplasia HP:0030680 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0000826 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0001270 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0001518 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0001773 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0008897 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0008947 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0200055 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0000750 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0001256 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0001513 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0001622 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0004322 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0004482 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0008872 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0011968 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0040288 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0000028 ORPHA:254516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0002591 ORPHA:254516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0002650 ORPHA:254516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0005978 ORPHA:254516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0000193 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0000238 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0000307 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0000824 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0001988 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0002007 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0004209 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254516 Temple syndrome HP:0007429 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0000289 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0000293 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0000347 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0000463 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0000465 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0000470 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001249 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001263 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001376 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001561 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001591 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0002015 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0002033 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0002421 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0004887 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0005257 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0005280 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0006267 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0006665 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0011968 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0025336 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0000205 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0000581 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001520 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001539 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001540 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001601 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001622 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0002007 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0002019 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0002673 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0002751 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0011335 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0000023 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001548 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001626 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0002884 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0008551 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0008897 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254519 Kagami-Ogata syndrome HP:0001250 ORPHA:254519 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0000016 ORPHA:254509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0000217 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0000508 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0001278 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0001324 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0002015 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0002019 ORPHA:254509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0002094 ORPHA:254509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0006597 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0006824 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0011499 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0012378 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254509 Iatrogenic botulism HP:0100021 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000253 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001249 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001344 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001508 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002540 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0011344 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0011968 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000327 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000369 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000411 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000414 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001250 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001257 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001999 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002013 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002079 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002376 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0003202 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0003429 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0007258 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001252 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0030890 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000218 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000233 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000316 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000319 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000325 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000341 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000343 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000365 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000396 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000400 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000463 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000494 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000565 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000582 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000639 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000718 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000737 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000768 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000924 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001166 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001251 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001274 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001347 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001371 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001382 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002069 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002283 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002355 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002365 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002465 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002509 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002827 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0005072 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0005659 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0006460 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0010055 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0011166 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0011229 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0011304 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0100704 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0009810 ORPHA:97336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0040188 ORPHA:97336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0001377 ORPHA:97336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0001386 ORPHA:97336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0002996 ORPHA:97336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0003063 ORPHA:97336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0030835 ORPHA:97336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0001871 ORPHA:97336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0003945 ORPHA:97336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0025259 ORPHA:97336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97336 Panner disease HP:0030865 ORPHA:97336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000189 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000238 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000248 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000262 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000316 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000327 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000348 ORPHA:207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000365 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000405 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000444 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000453 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000486 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000508 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000509 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000520 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000612 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000646 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000648 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000929 ORPHA:207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000956 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0000995 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0001053 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0001321 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0001999 ORPHA:207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0002007 ORPHA:207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0002093 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0002308 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0002315 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0002516 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0005107 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0011324 ORPHA:207 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0011386 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:207 Crouzon syndrome HP:0011800 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97335 Osgood-Schlatter disease HP:0030839 ORPHA:97335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97335 Osgood-Schlatter disease HP:0002355 ORPHA:97335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97335 Osgood-Schlatter disease HP:0003045 ORPHA:97335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97335 Osgood-Schlatter disease HP:0003066 ORPHA:97335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97335 Osgood-Schlatter disease HP:0006456 ORPHA:97335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97335 Osgood-Schlatter disease HP:0009046 ORPHA:97335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97335 Osgood-Schlatter disease HP:0002362 ORPHA:97335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97335 Osgood-Schlatter disease HP:0030866 ORPHA:97335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0000726 ORPHA:204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002529 ORPHA:204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0006790 ORPHA:204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0012672 ORPHA:204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0030890 ORPHA:204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0000708 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0001251 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0001289 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0001336 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002059 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002100 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002171 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002354 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002367 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002446 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002521 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002719 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002922 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0004887 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0100543 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0100806 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0000505 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0001257 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002071 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002493 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0003487 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0006801 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0007256 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0000238 ORPHA:137817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0000360 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0000365 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0000478 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0000504 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0000763 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0000970 ORPHA:137817 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0001265 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0001287 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0001324 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0002076 ORPHA:137817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0002829 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0002839 ORPHA:137817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0003401 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137817 Arachnoiditis HP:0012378 ORPHA:137817 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0000238 ORPHA:97339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001977 ORPHA:97339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0004947 ORPHA:97339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0008629 ORPHA:97339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0030724 ORPHA:97339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0000256 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0000501 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0000504 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0000520 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0000572 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0000932 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001085 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001268 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001297 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001317 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001324 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001342 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002017 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002138 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002170 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002196 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002315 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002370 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002463 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002516 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0003474 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0007906 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0011342 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0011695 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0012375 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0031157 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0100309 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:3000043 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0000651 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0000726 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0000741 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001250 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001251 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001269 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0001300 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002167 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002181 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002273 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0002617 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0006824 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0007333 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0011343 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97339 Dural sinus malformation HP:0030766 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0000365 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0000597 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0000952 ORPHA:205 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0001250 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0001252 ORPHA:205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0001254 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0001392 ORPHA:205 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0002321 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0002354 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0002383 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:205 Crigler-Najjar syndrome HP:0100543 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97337 Sinding-Larsen-Johansson disease HP:0030839 ORPHA:97337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97337 Sinding-Larsen-Johansson disease HP:0001386 ORPHA:97337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97337 Sinding-Larsen-Johansson disease HP:0010501 ORPHA:97337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97337 Sinding-Larsen-Johansson disease HP:0040188 ORPHA:97337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97337 Sinding-Larsen-Johansson disease HP:0002661 ORPHA:97337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0000035 ORPHA:202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0000135 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0000407 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0000478 ORPHA:202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0001596 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0002213 ORPHA:202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0002231 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0002299 ORPHA:202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0003777 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0008736 ORPHA:202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:202 Crandall syndrome HP:0100840 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000036 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000077 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000130 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000158 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000218 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000221 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000256 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000365 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000518 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000545 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000717 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000767 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000771 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000820 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000853 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000982 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0000995 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0001048 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0001053 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0001156 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0001249 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0001250 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0001251 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0001263 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0001317 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0001482 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0001508 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0002516 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0002650 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0002664 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0002808 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0002858 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0002861 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0003002 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0004322 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0004390 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0005374 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0005584 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0005595 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0006731 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0007565 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0008069 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0008675 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0009720 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0010614 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0012032 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0012062 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0012114 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0012733 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0012740 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0100006 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0100031 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0100543 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0100579 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0100780 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0200034 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:201 Cowden syndrome HP:0200063 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0011744 ORPHA:199244 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0011749 ORPHA:199244 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0003118 ORPHA:199244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0008291 ORPHA:199244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0012030 ORPHA:199244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0000505 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0000822 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0001065 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0002900 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0005978 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0007340 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0007440 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0007924 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0030521 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0030591 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0000830 ORPHA:199244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0002516 ORPHA:199244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0007807 ORPHA:199244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0009050 ORPHA:199244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0012246 ORPHA:199244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0000870 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0000873 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0002170 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0010788 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0011763 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0200026 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199244 Nelson syndrome HP:0430022 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97332 Kienbock disease HP:0001376 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97332 Kienbock disease HP:0002653 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97332 Kienbock disease HP:0002758 ORPHA:97332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97332 Kienbock disease HP:0002829 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97332 Kienbock disease HP:0003019 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97332 Kienbock disease HP:0010885 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97332 Kienbock disease HP:0010886 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0000825 ORPHA:263458 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0001943 ORPHA:263458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0001988 ORPHA:263458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0008283 ORPHA:263458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0030794 ORPHA:263458 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0001250 ORPHA:263458 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0012378 ORPHA:263458 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0000855 ORPHA:263458 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0001259 ORPHA:263458 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0000763 ORPHA:97330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0000772 ORPHA:97330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0000969 ORPHA:97330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0001324 ORPHA:97330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0002619 ORPHA:97330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0002829 ORPHA:97330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0003326 ORPHA:97330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0003394 ORPHA:97330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0003401 ORPHA:97330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0003457 ORPHA:97330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97330 Thoracic outlet syndrome HP:0004936 ORPHA:97330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000093 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000713 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000825 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000842 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000975 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000980 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001249 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001250 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001254 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001259 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001319 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001337 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002240 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001520 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001649 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001985 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001994 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001998 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002013 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002014 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002329 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002344 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002910 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0003076 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0003155 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0003162 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0004324 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0004359 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0004510 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0004912 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0005979 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0006568 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0012378 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0002716 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0005954 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0025104 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0025179 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0030879 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0045051 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0000961 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0001708 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0002094 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0002105 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0002875 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0004890 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0010741 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0012151 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0012418 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0025180 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0025420 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0030968 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0100721 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0100759 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0002202 ORPHA:199241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0100598 ORPHA:199241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0001698 ORPHA:199241 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0003493 ORPHA:199241 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0032230 ORPHA:199241 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0001260 ORPHA:209970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0001324 ORPHA:209970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0002131 ORPHA:209970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0002321 ORPHA:209970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0000639 ORPHA:209970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0000360 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0000651 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0002076 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0002411 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0002487 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209970 Episodic ataxia type 7 HP:0100543 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0002090 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0002094 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0002098 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0002113 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0002789 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0002878 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0011112 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0011227 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0012418 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0030783 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0032094 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0000969 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0001735 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0001945 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0002105 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0006530 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0011118 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0025420 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0030955 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0031273 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178320 Acute lung injury HP:0100806 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0000016 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0000217 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0000508 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0000651 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0001324 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0002014 ORPHA:254504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0002017 ORPHA:254504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0002019 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0002094 ORPHA:254504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0003470 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0006824 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0011499 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254504 Inhalational botulism HP:0012378 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000256 ORPHA:457485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001249 ORPHA:457485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001355 ORPHA:457485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001250 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001263 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001328 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001520 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001999 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002007 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002119 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002167 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002197 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002212 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0007359 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000028 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000154 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000194 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000316 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000343 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000486 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000729 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000752 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000957 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001028 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001053 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001252 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001273 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001288 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001538 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001540 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001763 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002099 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002126 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0004789 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0005257 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0011220 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0025104 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000047 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000331 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000494 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001998 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002720 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0005266 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0005280 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0012393 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0002751 ORPHA:65759 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001156 ORPHA:65759 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001770 ORPHA:65759 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0006101 ORPHA:65759 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0000028 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0000263 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0000929 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001159 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001249 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001363 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001513 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0003241 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0010442 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0000262 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0000481 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001162 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001841 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0002676 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0002857 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0011304 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0012243 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0030680 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001537 ORPHA:65759 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001643 ORPHA:65759 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001748 ORPHA:65759 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65759 Carpenter syndrome HP:0001762 ORPHA:65759 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141091 Polyrrhinia HP:0009934 ORPHA:141091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141091 Polyrrhinia HP:0010938 ORPHA:141091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141091 Polyrrhinia HP:0010939 ORPHA:141091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141091 Polyrrhinia HP:0000202 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141091 Polyrrhinia HP:0000316 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141091 Polyrrhinia HP:0002056 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141091 Polyrrhinia HP:0002693 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141091 Polyrrhinia HP:0006956 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141091 Polyrrhinia HP:0010951 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0012382 ORPHA:99103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001962 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002875 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0003546 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0012378 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0030718 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0031664 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001633 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001635 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001653 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002092 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002094 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0004749 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0004755 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005110 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005115 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005133 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005162 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005180 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005957 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0010741 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0011675 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0011705 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0011710 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0012250 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0012764 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0000961 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001279 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001297 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001708 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002090 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002326 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002718 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005317 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99103 Atrial septal defect, ostium secundum type HP:0006536 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000248 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000256 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000316 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000337 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000348 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000365 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000505 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000648 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0001363 ORPHA:178377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0002315 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0002516 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0002684 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0010628 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0011001 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0011342 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0012802 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001249 ORPHA:137831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001263 ORPHA:137831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001321 ORPHA:137831 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000486 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000490 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000729 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000735 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000817 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001251 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001252 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001290 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001999 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002119 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002123 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002167 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002342 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002384 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002465 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002951 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0010864 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0400000 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000303 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000431 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000448 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002080 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002172 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002280 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002340 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0006817 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0006913 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0006951 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0007018 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0007112 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000154 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000280 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000316 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000322 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000431 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000490 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0001061 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0001072 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0001156 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0001634 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0002797 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0005280 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0010885 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0012471 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000212 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000303 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000337 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000348 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000411 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000494 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000684 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0005916 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0001387 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0002650 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0002808 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0002816 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0004209 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0004568 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0006480 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0100490 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000023 ORPHA:137834 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0000771 ORPHA:137834 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137834 Frank-Ter Haar syndrome HP:0001537 ORPHA:137834 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000245 ORPHA:141099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0012806 ORPHA:141099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000625 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0002011 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0002119 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0009932 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0011821 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0012372 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0032039 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0430023 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000202 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000218 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000256 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000316 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000337 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000343 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000534 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000567 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000579 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000609 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000612 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000614 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0001273 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0001360 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0003241 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0007957 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0009117 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0040296 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0430005 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:3000030 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000122 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000286 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000453 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000482 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000486 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000508 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000518 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000520 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000528 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000568 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0000588 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0001144 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0001629 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0001643 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0005580 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0007946 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0009914 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0012300 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141099 Proboscis lateralis HP:0012738 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84090 Fibronectin glomerulopathy HP:0000083 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84090 Fibronectin glomerulopathy HP:0000093 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84090 Fibronectin glomerulopathy HP:0000100 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84090 Fibronectin glomerulopathy HP:0000822 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84090 Fibronectin glomerulopathy HP:0001342 ORPHA:84090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84090 Fibronectin glomerulopathy HP:0001966 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84090 Fibronectin glomerulopathy HP:0002907 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84090 Fibronectin glomerulopathy HP:0003073 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84090 Fibronectin glomerulopathy HP:0010741 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84090 Fibronectin glomerulopathy HP:0100820 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141096 Supernumerary nostril HP:0009934 ORPHA:141096 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:141096 Supernumerary nostril HP:0000271 ORPHA:141096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141096 Supernumerary nostril HP:0002006 ORPHA:141096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141096 Supernumerary nostril HP:0000453 ORPHA:141096 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141096 Supernumerary nostril HP:0000482 ORPHA:141096 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141096 Supernumerary nostril HP:0000519 ORPHA:141096 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:141096 Supernumerary nostril HP:3000040 ORPHA:141096 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0009830 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0011951 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0011968 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0030680 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0031282 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0031423 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000062 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000126 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000218 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000413 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000486 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000518 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000878 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001305 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001894 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002126 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002139 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002937 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0003298 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0004626 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0006934 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0008110 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0008221 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0010497 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0011326 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0011409 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0012725 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000212 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000343 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000431 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000463 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001167 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001231 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001263 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001780 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001817 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002353 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0008388 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0012810 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0100797 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000179 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000194 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000219 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000280 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000286 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000294 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000316 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000369 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000414 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000474 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001265 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001561 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002033 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002069 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002384 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002714 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0004209 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0008947 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0009237 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0009882 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0010347 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0012402 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000079 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000121 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000164 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000175 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000187 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000189 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000200 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000248 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000252 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000269 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000455 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000545 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000648 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000675 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000687 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000696 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000729 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0000851 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001199 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001336 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001488 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0001719 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002007 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002020 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0002098 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0004442 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79500 DOORS syndrome HP:0005306 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0000972 ORPHA:79501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0000982 ORPHA:79501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0011124 ORPHA:79501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0045059 ORPHA:79501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0025092 ORPHA:79501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0025114 ORPHA:79501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0040162 ORPHA:79501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0002861 ORPHA:79501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0003002 ORPHA:79501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0012500 ORPHA:79501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0012531 ORPHA:79501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0100751 ORPHA:79501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0002671 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0002860 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0005584 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0006725 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0008404 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0010622 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0012125 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0012126 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0012189 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0030692 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0040274 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0040276 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0100526 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000028 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000076 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000098 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000126 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000175 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000218 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000268 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000276 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000316 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000347 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000365 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000377 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000400 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000411 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000445 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000455 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000463 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000470 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000486 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000490 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000772 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0000774 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0001010 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0001053 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0001274 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0001376 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0001869 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0002007 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0002342 ORPHA:96061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0030680 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0002650 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0002804 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0003275 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0003422 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0004209 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0004322 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0006191 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0006443 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0007957 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0008734 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0009738 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96061 Mosaic trisomy 8 HP:0100490 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3294 Extensor tendons of finger anomalies HP:0000991 ORPHA:3294 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3294 Extensor tendons of finger anomalies HP:0001012 ORPHA:3294 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3294 Extensor tendons of finger anomalies HP:0100490 ORPHA:3294 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3294 Extensor tendons of finger anomalies HP:0000939 ORPHA:3294 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3294 Extensor tendons of finger anomalies HP:0001376 ORPHA:3294 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3294 Extensor tendons of finger anomalies HP:0003202 ORPHA:3294 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183713 Bacterial susceptibility due to TLR signaling pathway deficiency HP:0001945 ORPHA:183713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183713 Bacterial susceptibility due to TLR signaling pathway deficiency HP:0002721 ORPHA:183713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183713 Bacterial susceptibility due to TLR signaling pathway deficiency HP:0005406 ORPHA:183713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0003125 ORPHA:35909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0003225 ORPHA:35909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0003645 ORPHA:35909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0008151 ORPHA:35909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0000225 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0000421 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0000978 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0006298 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0011889 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0030137 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0000132 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0000790 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0002170 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0002239 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0004846 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0005261 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0002149 ORPHA:35909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0003077 ORPHA:35909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84085 Hinman syndrome HP:0000010 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84085 Hinman syndrome HP:0000076 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84085 Hinman syndrome HP:0000083 ORPHA:84085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84085 Hinman syndrome HP:0000126 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84085 Hinman syndrome HP:0000805 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84085 Hinman syndrome HP:0002019 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84085 Hinman syndrome HP:0002607 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0000089 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0000108 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0000822 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0001395 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0001396 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0001409 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0001433 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0001959 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0002910 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0003155 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0003573 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0004719 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0005565 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0006563 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0006571 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0012591 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0012622 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0020132 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0032581 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0032622 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0000713 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0000718 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0001394 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0001541 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0001903 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0002040 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0002500 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0002506 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0002612 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0003774 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0007018 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0012163 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0012585 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84081 Senior-Boichis syndrome HP:0031589 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0008138 ORPHA:178382 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0001436 ORPHA:178382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0001771 ORPHA:178382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0001838 ORPHA:178382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0008081 ORPHA:178382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0030311 ORPHA:178382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0000707 ORPHA:178382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0001763 ORPHA:178382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0005684 ORPHA:178382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0025238 ORPHA:178382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0002475 ORPHA:178382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0030268 ORPHA:178382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178382 Congenital vertical talus HP:0030840 ORPHA:178382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0001394 ORPHA:209919 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0025321 ORPHA:209919 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0001397 ORPHA:209919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0010839 ORPHA:209919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0032254 ORPHA:209919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0010837 ORPHA:209919 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0000211 ORPHA:3299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0002015 ORPHA:3299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0002179 ORPHA:3299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0003552 ORPHA:3299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0040212 ORPHA:3299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0001276 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0001649 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0001945 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0002063 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0005363 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0011355 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0011964 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0025258 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0000822 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0001259 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0001337 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0001662 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0002027 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0002098 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0002501 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0002607 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0002789 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0003236 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0003345 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0003639 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0005341 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0006824 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0012332 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0025145 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3299 Tetanus HP:0025425 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0000579 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0000620 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0001742 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0009926 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0012763 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0030215 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0030829 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:3000066 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0000646 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0001945 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0002033 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0002719 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0004411 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0004885 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0007651 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0007717 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0010307 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0025337 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0025612 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0030752 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0030864 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0045025 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0100539 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0100658 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141083 Nasolacrimal duct cyst HP:0200026 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0000511 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0001260 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0001310 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0001347 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002066 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002075 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002080 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002136 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002167 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002168 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002313 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002317 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0004302 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423275 Spinocerebellar ataxia type 40 HP:0006879 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183707 Neutrophil immunodeficiency syndrome HP:0001058 ORPHA:183707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183707 Neutrophil immunodeficiency syndrome HP:0001974 ORPHA:183707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183707 Neutrophil immunodeficiency syndrome HP:0002721 ORPHA:183707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183707 Neutrophil immunodeficiency syndrome HP:0011990 ORPHA:183707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0008163 ORPHA:199299 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0011735 ORPHA:199299 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0011748 ORPHA:199299 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001254 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001324 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001508 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001824 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002014 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002017 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002019 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002027 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002039 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002615 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002920 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002960 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0012378 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0000872 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0008209 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001897 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001972 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002149 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002902 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0011134 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0100647 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0100651 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0000829 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0000958 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001045 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001250 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001278 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001880 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001943 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002321 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002608 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002829 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0003072 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0006462 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0012115 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002893 ORPHA:199299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0100806 ORPHA:199299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002153 ORPHA:199299 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000100 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000164 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000217 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000246 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000327 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000463 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000958 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000962 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000963 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000964 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000966 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0001097 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0001508 ORPHA:238468 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0001597 ORPHA:238468 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0001999 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0002007 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0002217 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0004298 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0006482 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0007400 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0009804 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0009886 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0010978 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0011358 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0011362 ORPHA:238468 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0012471 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0012735 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0100533 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0100543 ORPHA:238468 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0100783 ORPHA:238468 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0100840 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3283 His bundle tachycardia HP:0001638 ORPHA:3283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3283 His bundle tachycardia HP:0011675 ORPHA:3283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3283 His bundle tachycardia HP:0011716 ORPHA:3283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3283 His bundle tachycardia HP:0100544 ORPHA:3283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0001998 ORPHA:199296 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0008163 ORPHA:199296 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0011735 ORPHA:199296 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0000835 ORPHA:199296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0002615 ORPHA:199296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0002902 ORPHA:199296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0012378 ORPHA:199296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0002173 ORPHA:199296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0006579 ORPHA:199296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0012115 ORPHA:199296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199296 Congenital isolated ACTH deficiency HP:0002153 ORPHA:199296 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0000648 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0000750 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001251 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001256 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001257 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001260 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001266 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001285 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001288 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001332 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001347 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001508 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002015 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002066 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002167 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002273 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002376 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0003487 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0006999 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0007374 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0007811 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0008947 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0012758 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001276 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001336 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002020 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002063 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002359 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002396 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002446 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0003484 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0006799 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002505 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0007340 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0007688 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0012697 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0000464 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0000707 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0000822 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0001297 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0002621 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0031910 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0000819 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0001269 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0001609 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0001727 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0001977 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0002138 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0002381 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0002633 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0002634 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0002637 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0003484 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0003549 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0005160 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0006824 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0012089 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0012531 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0031690 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0032169 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0002721 ORPHA:494424 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0002960 ORPHA:494424 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0005313 ORPHA:494424 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:494424 Extracranial carotid artery aneurysm HP:0032271 ORPHA:494424 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0000988 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0001392 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0001903 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0002015 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0002017 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0002019 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0002239 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0005214 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0006753 ORPHA:44890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0007378 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0007400 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0012378 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0100242 ORPHA:44890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0100273 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0100723 ORPHA:44890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0100743 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0100751 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:44890 Gastrointestinal stromal tumor HP:0100833 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0000776 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0001166 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0001371 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0001376 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0001582 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0001654 ORPHA:171719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0002097 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0002827 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0002643 ORPHA:217563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0002789 ORPHA:217563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0006517 ORPHA:217563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0006530 ORPHA:217563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0002092 ORPHA:217563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0002113 ORPHA:217563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0031457 ORPHA:217563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0001667 ORPHA:217563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0004876 ORPHA:217563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0006515 ORPHA:217563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0006528 ORPHA:217563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia HP:0001279 ORPHA:3286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia HP:0001645 ORPHA:3286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia HP:0002321 ORPHA:3286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia HP:0004756 ORPHA:3286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0000488 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0000822 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0000975 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001250 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001324 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001369 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001482 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001639 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001646 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001654 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001658 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001824 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001903 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0001945 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0002039 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0002076 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0002092 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0002105 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0002167 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0002617 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0002633 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0002637 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0002793 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0002829 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0003326 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0004306 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0004372 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0004970 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0005244 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0012378 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0012649 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0100533 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0100545 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0100576 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0100735 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0100749 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0100758 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3287 Takayasu arteritis HP:0200042 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0007663 ORPHA:209943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0007906 ORPHA:209943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0100832 ORPHA:209943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0000501 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0000541 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0000613 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0000622 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0000648 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0001147 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0007917 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209943 IRVAN syndrome HP:0040049 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000003 ORPHA:3270 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000164 ORPHA:3270 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000174 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000256 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000268 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000275 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000364 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000411 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000426 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000448 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000486 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000670 ORPHA:3270 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000767 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0001252 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0001263 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0001288 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0002167 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0002974 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0003011 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0007477 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0000708 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0000718 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0000750 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0001249 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0001263 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0001999 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0000319 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0000343 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0000358 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0000400 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0000463 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0000664 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0001176 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0001250 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0001513 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0002553 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0011094 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300305 11p15.4 microduplication syndrome HP:0012389 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001263 ORPHA:263410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002134 ORPHA:263410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0012697 ORPHA:263410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0000711 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0000737 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001250 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001251 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001260 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001289 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001332 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001347 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002273 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002329 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002465 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0007105 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0007185 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0012747 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0030215 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0000494 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002093 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002133 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002510 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0004302 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0008947 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0012469 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001999 ORPHA:84064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0002041 ORPHA:84064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0002224 ORPHA:84064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0002721 ORPHA:84064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000316 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000337 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000431 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001256 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001263 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001392 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001394 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001395 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001511 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001518 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0002240 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0002299 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0003139 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0004322 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0005599 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0009886 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0011121 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0011220 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0011473 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0025156 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0030056 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000957 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000958 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001627 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001888 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001894 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0002583 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0002719 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0005263 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0011031 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0011877 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000023 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000089 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000113 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000501 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000778 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0000821 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001629 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001631 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001636 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001643 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001647 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001659 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0001744 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0002884 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0004969 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0007513 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84064 Syndromic diarrhea HP:0025085 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0001388 ORPHA:486815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002747 ORPHA:486815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003458 ORPHA:486815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0007502 ORPHA:486815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000218 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000467 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000767 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000958 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0001270 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0001290 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002020 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002205 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002421 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002650 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003306 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003557 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003687 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003690 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003789 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0010647 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0011471 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0011968 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000028 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000750 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000823 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0001612 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002828 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0008081 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0008180 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0025502 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0000639 ORPHA:423296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0001260 ORPHA:423296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0002066 ORPHA:423296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0002355 ORPHA:423296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0000514 ORPHA:423296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0001272 ORPHA:423296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0003474 ORPHA:423296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0009830 ORPHA:423296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0002460 ORPHA:423296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0000708 ORPHA:423296 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:423296 Spinocerebellar ataxia type 38 HP:0001337 ORPHA:423296 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000008 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000028 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000126 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000160 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000175 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000189 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000235 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000252 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000268 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000269 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000275 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000286 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000308 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000316 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000325 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000337 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000348 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000368 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000453 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000465 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000482 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000501 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000518 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000568 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000581 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000612 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000772 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0000776 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001162 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001252 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001263 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001276 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001360 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001510 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001511 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001539 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001562 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001629 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0001631 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0002023 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0002032 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0002308 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0002323 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0002414 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0030680 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0002750 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0002814 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0002817 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0003196 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0003272 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0003275 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0004097 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0004322 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0004326 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0007370 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0007477 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0007598 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0007703 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0008388 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0009891 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0009914 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0010935 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0100335 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0100490 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0100543 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0100790 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3380 Trisomy 18 HP:0100810 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0000256 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0000286 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0000298 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0000494 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0000717 ORPHA:238446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0000722 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0000750 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0001249 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0001250 ORPHA:238446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0001251 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0001252 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0001263 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0002186 ORPHA:238446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0030680 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0004209 ORPHA:238446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0004322 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0005692 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0006101 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238446 15q11q13 microduplication syndrome HP:0007018 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001660 ORPHA:3384 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0000961 ORPHA:3384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001627 ORPHA:3384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001649 ORPHA:3384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001654 ORPHA:3384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0031653 ORPHA:3384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001511 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001629 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001640 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001659 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001667 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0002789 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0011660 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0012020 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0000778 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0000849 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001631 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001636 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001642 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001643 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001999 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0002089 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0002101 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0004415 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0004935 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0005301 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0006704 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0011611 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0011640 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0025575 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0031014 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0045060 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0100598 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0001669 ORPHA:3384 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0004971 ORPHA:3384 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3384 Truncus arteriosus HP:0031635 ORPHA:3384 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000028 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000160 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000164 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000316 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000343 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000365 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000430 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000431 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000457 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000486 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000490 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000494 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0000508 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0001387 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0001508 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0001510 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0001557 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0001561 ORPHA:2053 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0001562 ORPHA:2053 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0001611 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0001762 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0002047 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0002167 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0002650 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0004322 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0008872 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0009465 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0010489 ORPHA:2053 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0010751 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0100490 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2053 Freeman-Sheldon syndrome HP:0100790 ORPHA:2053 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0001298 ORPHA:83597 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0007204 ORPHA:83597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0007305 ORPHA:83597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0010845 ORPHA:83597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0000708 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0000737 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0001250 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0001251 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0001268 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0001317 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0001945 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0002018 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0002134 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0002143 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0002181 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0002315 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0002518 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0002922 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0007256 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0012486 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0012696 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0012747 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0025373 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0031696 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0032492 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0100786 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0200149 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0000572 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0000718 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0001259 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0001269 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0001289 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0001324 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0002013 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0002167 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0003474 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0004887 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0006824 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0010843 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0011151 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0011193 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0030857 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0031179 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0100653 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0004305 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0006562 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0006597 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0007103 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0012302 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0020088 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0020089 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0031693 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83597 Acute disseminated encephalomyelitis HP:0031695 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000003 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000028 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000046 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000047 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000062 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000068 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000089 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000142 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000148 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000202 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000204 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000218 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000252 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000316 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000368 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000370 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000405 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000413 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000430 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000431 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000528 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000568 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000618 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000678 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000689 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0000813 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0001126 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0001249 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0001362 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0001522 ORPHA:2052 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0001537 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0001539 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0001602 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0001607 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0001770 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0002023 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0002025 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0002084 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0002089 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0002101 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0002475 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0030680 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0002777 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0003183 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0003191 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0003422 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0004112 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0004397 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0005280 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0006101 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0006610 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0007925 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0007993 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0008572 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0008736 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0010297 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0010458 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2052 Fraser syndrome HP:0010720 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0000561 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0000695 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0001030 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0001802 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0001817 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0002223 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0002298 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0002878 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0005597 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0031274 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0031538 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0032449 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0100792 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0000175 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0000924 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0001233 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0001511 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0001562 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0001638 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0001640 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0001836 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0004209 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0006097 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0006670 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0010705 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0011039 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158687 Lethal acantholytic erosive disorder HP:0000377 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0000262 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0000347 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0000494 ORPHA:2050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0000520 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0000592 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0000682 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0000684 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0000772 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0000944 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0001252 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0001263 ORPHA:2050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0001334 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0001511 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0001608 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0002007 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0002645 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0002650 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0002652 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0002757 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0002808 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0003312 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0004322 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0005692 ORPHA:2050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0006367 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0006487 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2050 Cole-Carpenter syndrome HP:0011800 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000079 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001030 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001057 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0002013 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0003236 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0003270 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0003341 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0004399 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0007585 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0008066 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0200041 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0200097 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000070 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000075 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000096 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000110 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000126 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000795 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001056 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001075 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001371 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001561 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0003560 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0004552 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0007385 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0007589 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0008404 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0008551 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0010477 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0000953 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0000989 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0001036 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0003341 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0005585 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0007513 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0007585 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0008066 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0031045 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0031180 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0200037 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0000464 ORPHA:158681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0002815 ORPHA:158681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0007599 ORPHA:158681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0012221 ORPHA:158681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0000478 ORPHA:158681 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0000972 ORPHA:158681 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0008404 ORPHA:158681 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0200097 ORPHA:158681 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000003 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000028 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000047 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000076 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000126 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000154 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000161 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000175 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000218 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000280 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000316 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000337 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000343 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000347 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000368 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000431 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000463 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000470 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000474 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000568 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000774 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000776 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0000813 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0001249 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0001250 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0001274 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0001305 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0001539 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0001561 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0001636 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0001671 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0001679 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0001804 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0002020 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0002023 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0002089 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0002119 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0002120 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0002247 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0002251 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0002566 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0004209 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0004397 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0006610 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0006709 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0007957 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0009882 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0010804 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0011344 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0012303 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2059 Fryns syndrome HP:0100335 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000154 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000179 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000232 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000252 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000322 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000347 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000426 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000446 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0001166 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0001249 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0001252 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0001519 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0002650 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0002714 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0002827 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0004322 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0004326 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0005692 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0006443 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000179 ORPHA:2057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000303 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000316 ORPHA:2057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000458 ORPHA:2057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000508 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000565 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000574 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000581 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000664 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0001291 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0002553 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0004322 ORPHA:2057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0006889 ORPHA:2057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0001252 ORPHA:137754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0001298 ORPHA:137754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0003324 ORPHA:137754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0001250 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0001263 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0002013 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0002104 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0003396 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0006817 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0007370 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0000316 ORPHA:137754 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0000407 ORPHA:137754 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0000445 ORPHA:137754 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2056 Essential fructosuria HP:0011033 ORPHA:2056 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2056 Essential fructosuria HP:0012379 ORPHA:2056 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2056 Essential fructosuria HP:0010969 ORPHA:2056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2056 Essential fructosuria HP:0030272 ORPHA:2056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2056 Essential fructosuria HP:0031979 ORPHA:2056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2056 Essential fructosuria HP:0003074 ORPHA:2056 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001288 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001760 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003477 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003484 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0007141 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0007220 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0007340 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0011402 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001265 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001761 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001884 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0002460 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003458 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003474 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003693 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003701 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0009046 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0012896 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0030235 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0200101 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001270 ORPHA:99939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0002540 ORPHA:99939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003376 ORPHA:99939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0000762 ORPHA:99939 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000707 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001262 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002360 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0006979 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0030050 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0032323 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000741 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000989 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001324 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001433 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001744 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001824 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002240 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002315 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002355 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002494 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002500 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002716 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0003115 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0011442 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0012378 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0012751 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0025145 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0100785 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0410263 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000020 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000083 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000140 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000491 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000509 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000651 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000708 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000718 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000737 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000739 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000771 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000789 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000802 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000818 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000847 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000952 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001101 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001266 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001269 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001288 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001337 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001345 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001596 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001709 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002013 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002014 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002018 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002119 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002167 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002304 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002380 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002476 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002829 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0003401 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0003470 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0003474 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0004305 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0004372 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0005521 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0006824 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0007178 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0010831 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0011706 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0011731 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0032367 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0040086 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0100653 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0100660 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0000738 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001085 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001250 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001259 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001622 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001635 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0001701 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0002196 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0005268 ORPHA:3385 TAS HP:0040284 C ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0011675 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0012486 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0012819 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0025475 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3385 African trypanosomiasis HP:0031258 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0000969 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0000980 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0000988 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0001638 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0001744 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0001907 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0001945 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0002014 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0002027 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0002094 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0002240 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0002315 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0002716 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0003326 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0011355 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0011675 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0012735 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0012819 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0030057 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0100539 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0001635 ORPHA:3386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0002251 ORPHA:3386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0002571 ORPHA:3386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0012700 ORPHA:3386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0000707 ORPHA:3386 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0002383 ORPHA:3386 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3386 American trypanosomiasis HP:0009830 ORPHA:3386 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000490 ORPHA:502434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001249 ORPHA:502434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001263 ORPHA:502434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000028 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000154 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000426 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000729 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001250 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0002020 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0011968 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0045074 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000050 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000085 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000202 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000218 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000252 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000347 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000369 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000486 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000527 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000664 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000954 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000965 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001252 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001377 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001388 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001508 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001511 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001566 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001999 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0002650 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0002817 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0004209 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0004322 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0004691 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0010864 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0012444 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0200134 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3389 Tuberculosis HP:0001824 ORPHA:3389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3389 Tuberculosis HP:0001945 ORPHA:3389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3389 Tuberculosis HP:0002088 ORPHA:3389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3389 Tuberculosis HP:0012378 ORPHA:3389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3389 Tuberculosis HP:0012735 ORPHA:3389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0001891 ORPHA:99931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0000980 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0001433 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002105 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002113 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0012378 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0012735 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0025179 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0001508 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0001640 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0001945 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002091 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002094 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002206 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002240 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002878 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002923 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0003262 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0003453 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0003493 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0012393 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0025390 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0025392 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0025420 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0030057 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0030148 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0030830 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0000099 ORPHA:99931 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0100327 ORPHA:99931 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0001873 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0001875 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0001892 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0001902 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0001933 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0002090 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0002098 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0003010 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0011883 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0012143 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0012418 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0040223 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238459 SLC35A1-CDG HP:0100658 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002191 ORPHA:401866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0008288 ORPHA:401866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0000505 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0000639 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0000648 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0000736 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001264 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001276 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001347 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002317 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002415 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002464 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002928 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0003487 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0008945 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0100561 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0000737 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001251 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001290 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001336 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002376 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0011968 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001712 ORPHA:401866 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002151 ORPHA:401866 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0100543 ORPHA:401866 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0001300 ORPHA:238455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0001332 ORPHA:238455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0000338 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0000737 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0001263 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0001276 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0001344 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0002019 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0002020 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0002067 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0002072 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0002310 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0002375 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0002509 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0004354 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0007256 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0008936 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0010553 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0011968 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238455 Infantile dystonia-parkinsonism HP:0100021 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0000121 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0000164 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0000168 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0000174 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0000230 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0000975 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0000988 ORPHA:53715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0001053 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0001482 ORPHA:53715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0001609 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0001744 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0002240 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0002653 ORPHA:53715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0007470 ORPHA:53715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0008069 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0010783 ORPHA:53715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0100249 ORPHA:53715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53715 Familial tumoral calcinosis HP:0100774 ORPHA:53715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001635 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001640 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001649 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0002875 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0003115 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0005162 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0031664 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0031670 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001279 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001627 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001631 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001643 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001647 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001650 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001655 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001681 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0001962 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0002092 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0002617 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0002789 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0005133 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0006689 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0010741 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0011675 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0012764 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0030848 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2041 Coronary arterial fistula HP:0030882 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2040 Congenital respiratory-biliary fistula HP:0001392 ORPHA:2040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2040 Congenital respiratory-biliary fistula HP:0002777 ORPHA:2040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0001805 ORPHA:158676 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0001808 ORPHA:158676 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0008404 ORPHA:158676 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0001810 ORPHA:158676 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0008391 ORPHA:158676 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0008401 ORPHA:158676 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0040036 ORPHA:158676 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0001802 ORPHA:158676 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0001030 ORPHA:158676 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0008066 ORPHA:158676 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0011121 ORPHA:158676 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0000225 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0000324 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0000360 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0000365 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0000421 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0000496 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0000520 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0000572 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0000737 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0001249 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0001250 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0001260 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0001263 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0001269 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0001342 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0002017 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0002138 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0002315 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0002617 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0007185 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0007730 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0007797 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0011276 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0100021 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0100026 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0100659 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53719 Wyburn-Mason syndrome HP:0100784 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0000613 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0000632 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0000643 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0007663 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0008000 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0009926 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0030953 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0200026 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0000491 ORPHA:171673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0000559 ORPHA:171673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0007727 ORPHA:171673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0011494 ORPHA:171673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0011496 ORPHA:171673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0100583 ORPHA:171673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171673 Limbal stem cell deficiency HP:0500008 ORPHA:171673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0000963 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0000992 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0001009 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0001029 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0001030 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0001056 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0001810 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0002043 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0002814 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0004334 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0007473 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0000972 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0008066 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0008391 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0010783 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0025474 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0031045 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0002815 ORPHA:158673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0008390 ORPHA:158673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0009811 ORPHA:158673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001172 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001250 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001263 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001288 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001344 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001608 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2048 Foix-Chavany-Marie syndrome HP:0009800 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2048 Foix-Chavany-Marie syndrome HP:0100543 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0000408 ORPHA:2047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0000505 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0000510 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0000518 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0000545 ORPHA:2047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0000670 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0000726 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0000820 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0001250 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0001251 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0001387 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0001596 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0002120 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0002353 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0002376 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0002381 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0002514 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0002621 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0002650 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0002808 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0003202 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0004326 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0004334 ORPHA:2047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0005978 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0007328 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0008207 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0009830 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0012062 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0100022 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2047 Flynn-Aird syndrome HP:0200042 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99926 Gestational choriocarcinoma HP:0100768 ORPHA:99926 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99926 Gestational choriocarcinoma HP:0002664 ORPHA:99926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99926 Gestational choriocarcinoma HP:0005268 ORPHA:99926 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:99926 Gestational choriocarcinoma HP:0031502 ORPHA:99926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99926 Gestational choriocarcinoma HP:0100608 ORPHA:99926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2045 FLOTCH syndrome HP:0000492 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2045 FLOTCH syndrome HP:0000498 ORPHA:2045 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2045 FLOTCH syndrome HP:0000499 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2045 FLOTCH syndrome HP:0000613 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2045 FLOTCH syndrome HP:0000653 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2045 FLOTCH syndrome HP:0000787 ORPHA:2045 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2045 FLOTCH syndrome HP:0001597 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2045 FLOTCH syndrome HP:0008069 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2045 FLOTCH syndrome HP:0100533 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99927 Hydatidiform mole HP:0000836 ORPHA:99927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99927 Hydatidiform mole HP:0001903 ORPHA:99927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99927 Hydatidiform mole HP:0002017 ORPHA:99927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99927 Hydatidiform mole HP:0005268 ORPHA:99927 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:99927 Hydatidiform mole HP:0100878 ORPHA:99927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99927 Hydatidiform mole HP:0400008 ORPHA:99927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0000273 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001250 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001260 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001328 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002015 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002533 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002788 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0009062 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0030215 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0100022 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0000020 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0000298 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0000338 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0000736 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001288 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001300 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001332 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001347 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002033 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002066 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002067 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002072 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002300 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002301 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002307 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002322 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002465 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0003487 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0004372 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0005366 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0007158 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0007185 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0008947 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0011151 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0025439 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0030187 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0007359 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0040288 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0000590 ORPHA:352470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003325 ORPHA:352470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0000716 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0001288 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0001290 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0001533 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0001558 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0002355 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0002828 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0002870 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0002875 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003198 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003307 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003326 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003391 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003394 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003737 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0004673 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0007970 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0008331 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0040013 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99928 Placental site trophoblastic tumor HP:0000141 ORPHA:99928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99928 Placental site trophoblastic tumor HP:0005268 ORPHA:99928 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:99928 Placental site trophoblastic tumor HP:0100608 ORPHA:99928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001518 ORPHA:2044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0004322 ORPHA:2044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0011098 ORPHA:2044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000154 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000325 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000470 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000486 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000750 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000914 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001256 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001510 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0002342 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0002750 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000028 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000047 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000104 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000107 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000121 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000126 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000322 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000327 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000369 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000405 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000446 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000455 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000490 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000540 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000670 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000677 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000691 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000711 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000718 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000722 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000736 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000739 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000826 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000878 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000894 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001156 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001250 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001260 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001344 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001385 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001611 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001620 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0002019 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0002020 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0002136 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0002751 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0003037 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0003083 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0003189 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0003879 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0005743 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0006335 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0007018 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0009765 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0009778 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0010049 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0010946 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0010957 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0011300 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0012871 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0025160 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0030084 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0030424 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0040288 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0100710 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000113 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0000593 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001631 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001636 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0001680 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0002608 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0003774 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0005301 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0008554 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0011599 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2044 Floating-Harbor syndrome HP:0012538 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0002094 ORPHA:275766 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0001667 ORPHA:275766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0002092 ORPHA:275766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0004890 ORPHA:275766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0005317 ORPHA:275766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:3000042 ORPHA:275766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0001279 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0001635 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0001785 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0005180 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0012098 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0030148 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0100749 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0001962 ORPHA:275766 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0002105 ORPHA:275766 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0010741 ORPHA:275766 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0003549 ORPHA:275766 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0004870 ORPHA:275766 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000161 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000235 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000256 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000268 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000316 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000482 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000534 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000581 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000615 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000951 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0001561 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0001601 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0100629 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000175 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000324 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0000612 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0002007 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3374 Triopia HP:0002084 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0000127 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0008207 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0000952 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0000989 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0000991 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001114 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001263 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001297 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001395 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001399 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001410 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001414 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001433 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001508 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001541 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001824 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001903 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001922 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001941 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001944 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001971 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002013 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002014 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002017 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002027 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002040 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002092 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002153 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002155 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002361 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002570 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002615 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002902 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0002910 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0003124 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0003155 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0003270 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0012605 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0004326 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0004333 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0004395 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0004416 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0001677 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0006583 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0010512 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0011106 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0011968 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0012598 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275761 Lysosomal acid lipase deficiency HP:0100543 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0000003 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0000098 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0000286 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0000316 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0000582 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0000716 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0000739 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0000767 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0000869 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0001250 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0001252 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0001263 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0001328 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0001337 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0001385 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0002916 ORPHA:3375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0004209 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0005692 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0007018 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0008678 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3375 Trisomy X HP:0100543 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000028 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000047 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000062 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000154 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000158 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000160 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000175 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000235 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000238 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000256 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000316 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000347 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000368 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000470 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000518 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000612 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0000774 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0001360 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0001511 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0001539 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0001561 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0001671 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0001732 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0002240 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0002435 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0002566 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0002916 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0004331 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0005264 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0006101 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0007370 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0008056 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0008736 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3376 Triploidy HP:0100335 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0004322 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0000233 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0000252 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0000286 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0000311 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0000316 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0000319 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0000347 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0000369 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0001249 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0001250 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0001263 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0005280 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0007370 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36367 Distal monosomy 1q HP:0011220 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0000303 ORPHA:3377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0001376 ORPHA:3377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0002827 ORPHA:3377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0003011 ORPHA:3377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0004322 ORPHA:3377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0009773 ORPHA:3377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0000508 ORPHA:3377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99925 Invasive mole HP:0400008 ORPHA:99925 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000008 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000028 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000069 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000126 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000161 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000164 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000175 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000235 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000343 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000369 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000384 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000407 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000476 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000490 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000499 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000504 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000518 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000528 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000568 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000612 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000648 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000774 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0001362 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0001511 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0001629 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0001631 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0001789 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0002101 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0002167 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0002308 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0030680 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0002644 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0002650 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0002705 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0004467 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0007477 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0007598 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0008046 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0008053 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0011344 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0100257 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0100543 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000272 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000370 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000478 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000601 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0000772 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0001162 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0001250 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0001252 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0001643 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0002808 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0005306 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0005562 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0009738 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0010864 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0011039 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0100627 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3378 Trisomy 13 HP:0100790 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0003325 ORPHA:352479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0030046 ORPHA:352479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0000158 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0001626 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0002792 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0003202 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0003707 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0008994 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0008997 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0030234 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0002505 ORPHA:352479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0003326 ORPHA:352479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0003691 ORPHA:352479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0008305 ORPHA:352479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0000478 ORPHA:352479 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0011446 ORPHA:352479 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001263 ORPHA:3379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0010864 ORPHA:3379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000028 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000076 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000154 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000175 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000218 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000219 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000252 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000286 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000316 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000322 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000347 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000368 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000581 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000768 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001161 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001761 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001822 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0002000 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0002007 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0002162 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0002572 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0002857 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0003510 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0004322 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0005280 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0008905 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0009911 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000075 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000411 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0000752 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001166 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001250 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001321 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001388 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001627 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001747 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0001845 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0002650 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0006897 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3379 Distal trisomy 17q HP:0008619 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0000498 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0001805 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0003765 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0005406 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0008396 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0010783 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0011131 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0011228 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0011354 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0012390 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0025085 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0031123 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0040181 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0040189 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0100038 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0200039 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0410017 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0001712 ORPHA:294023 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001058 ORPHA:99921 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001072 ORPHA:99921 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0007432 ORPHA:99921 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0000217 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0000495 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0000613 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001000 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001097 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001596 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001806 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002110 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002719 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002910 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0008404 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0010783 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0012537 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0000142 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0000790 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001324 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001369 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001371 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001541 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001741 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001824 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0001876 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002014 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002015 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002018 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002020 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002027 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002031 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002039 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002043 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002094 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002107 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002113 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002202 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0002829 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0003326 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0004791 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0006536 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0011946 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0012181 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0012344 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0012531 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0012735 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0025270 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0030828 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0100537 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0100577 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0100749 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0200037 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99921 Chronic graft versus host disease HP:0200042 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48372 Nodular regenerative hyperplasia of the liver HP:0001409 ORPHA:48372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48372 Nodular regenerative hyperplasia of the liver HP:0006707 ORPHA:48372 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0045075 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0000958 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0001596 ORPHA:3361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0002208 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0002209 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0002231 ORPHA:3361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0003777 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0009886 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0002299 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0002552 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000003 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000107 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000162 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000364 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000368 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000411 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000430 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000463 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000478 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000486 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000504 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000505 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000508 ORPHA:2031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000567 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000581 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000639 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0001249 ORPHA:2031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0001250 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0001276 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0002093 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0002119 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0002435 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0002612 ORPHA:2031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0003196 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0004209 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0004322 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0004422 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0007477 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0100022 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0000407 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0000509 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0000975 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0000989 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0001025 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0001369 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0001944 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0001945 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0001959 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0002017 ORPHA:47045 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0002027 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0002315 ORPHA:47045 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0002829 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0003326 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0010783 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0012378 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47045 Familial cold urticaria HP:0012534 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0000821 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0000836 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0000953 ORPHA:48377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0000989 ORPHA:48377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0001370 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0002725 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0002960 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0006775 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0010702 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0010783 ORPHA:48377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48377 Subcorneal pustular dermatosis HP:0200039 ORPHA:48377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0001009 ORPHA:2038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0004952 ORPHA:2038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0001892 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0002094 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0002140 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0002326 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0012151 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0012418 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0000421 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0000961 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0001217 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0001658 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0001891 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0001962 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0001977 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0002076 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0002092 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0002105 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0006689 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0011919 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0012735 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0030049 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0030148 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0040223 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0001250 ORPHA:2038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0002722 ORPHA:2038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0005244 ORPHA:2038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2038 Pulmonary arteriovenous malformation HP:0100523 ORPHA:2038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000385 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000951 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0001965 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0006709 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0008070 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0008551 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0009738 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0011251 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0011272 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0100783 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000010 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000164 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000506 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000518 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000684 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000822 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0001231 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0100540 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0100651 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000073 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000077 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000625 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0000966 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0005580 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2036 Scalp-ear-nipple syndrome HP:0012330 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0000750 ORPHA:209908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0002167 ORPHA:209908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0001260 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0001328 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0002465 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0002474 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0002546 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0006977 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0007010 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0010863 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0011098 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0031434 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0002307 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0002339 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0002340 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0007015 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0011968 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0012434 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0000176 ORPHA:209908 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0000396 ORPHA:209908 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0000729 ORPHA:209908 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0002705 ORPHA:209908 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209908 Isolated childhood apraxia of speech HP:0011228 ORPHA:209908 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0001004 ORPHA:2035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0002716 ORPHA:2035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0003550 ORPHA:2035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0100763 ORPHA:2035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000953 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000962 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0002840 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0012224 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0012378 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0012531 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0032061 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000034 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000045 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000077 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0001945 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0002088 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0002091 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0012735 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0030828 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0031690 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0031842 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0032260 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0100673 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0100796 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000031 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000093 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000099 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000100 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000790 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0000796 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0001785 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0005086 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2035 Lymphatic filariasis HP:0008763 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0006530 ORPHA:2032 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0002020 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0002110 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0002206 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0002875 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0012735 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0025175 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0025179 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0025390 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0030830 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0100759 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2032 Idiopathic pulmonary fibrosis HP:0010444 ORPHA:2032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0003444 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0003477 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0007141 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0007256 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0008936 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0009830 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0012675 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002454 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0012698 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0025435 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000486 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000618 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000639 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000708 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000712 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000729 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000736 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000750 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000752 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001257 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001260 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001288 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001332 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001371 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002019 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002307 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0005968 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0011951 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0012043 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0012332 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0100710 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001250 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0005949 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0010545 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0025331 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0030842 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0031358 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001272 ORPHA:35069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002361 ORPHA:35069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002376 ORPHA:35069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000648 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000649 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001251 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001268 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001285 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001347 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002191 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002317 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002483 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002500 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0003134 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35069 Infantile neuroaxonal dystrophy HP:0003405 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0000336 ORPHA:3366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0000431 ORPHA:3366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0000601 ORPHA:3366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0000664 ORPHA:3366 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0001539 ORPHA:3366 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0000243 ORPHA:3366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000021 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000047 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000076 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000252 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000465 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000668 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000722 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000736 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000752 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000829 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001274 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001655 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001955 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001999 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002099 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002206 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002360 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002389 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002527 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002679 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002878 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0004322 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0030082 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0100738 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0100753 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000820 ORPHA:209905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000707 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000851 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001251 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001266 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002072 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002086 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002098 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002643 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0008947 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0000407 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001256 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001260 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001263 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001270 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001332 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001336 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001508 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001510 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001629 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001631 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0001671 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002080 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002092 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002186 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002205 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002311 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002312 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0002925 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0004305 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0006530 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0006532 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0008188 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0008223 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209905 Brain-lung-thyroid syndrome HP:0011780 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001396 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001397 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001403 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001513 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001677 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0002155 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0003124 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0003141 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0004943 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001677 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0006573 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0008372 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0011980 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0012115 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0012397 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0100514 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000431 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000243 ORPHA:3369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0001263 ORPHA:3369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0004322 ORPHA:3369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000023 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000216 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000218 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000237 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000341 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000368 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000601 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0001250 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0001518 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0001629 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0002342 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000444 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0005484 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0005494 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0005495 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0005769 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000286 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0008897 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0011324 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0000217 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0000709 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0000716 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0000739 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0000821 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0000958 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0000978 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0001250 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0001369 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0001482 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0001513 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0001581 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0002014 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0002019 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0002215 ORPHA:36397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0002225 ORPHA:36397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0002315 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0002354 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0002360 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0002376 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0002829 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0002960 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0003401 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0009830 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0012378 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36397 Adiposis dolorosa HP:0100585 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3350 Tremor-nystagmus-duodenal ulcer syndrome HP:0000639 ORPHA:3350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3350 Tremor-nystagmus-duodenal ulcer syndrome HP:0002588 ORPHA:3350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3350 Tremor-nystagmus-duodenal ulcer syndrome HP:0100022 ORPHA:3350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3350 Tremor-nystagmus-duodenal ulcer syndrome HP:0001251 ORPHA:3350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001252 ORPHA:2020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003323 ORPHA:2020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0011807 ORPHA:2020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000218 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000678 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001270 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001284 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001315 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001371 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001508 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001824 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002015 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002058 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002086 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002421 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002747 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003388 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0004347 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0004396 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0011842 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0011968 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0012378 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0030192 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0030319 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000276 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000347 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000602 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000767 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001374 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001558 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001561 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001609 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001627 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001648 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001761 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001762 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002205 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002315 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002360 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002650 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002751 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002878 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002987 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003273 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003307 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003324 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003547 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003749 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0004878 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0005216 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0006380 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0006466 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0009004 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0009027 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0011470 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0011951 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0012416 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0012418 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0012785 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306550 FADD-related immunodeficiency HP:0001250 ORPHA:306550 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:306550 FADD-related immunodeficiency HP:0001298 ORPHA:306550 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:306550 FADD-related immunodeficiency HP:0001410 ORPHA:306550 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:306550 FADD-related immunodeficiency HP:0001395 ORPHA:306550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306550 FADD-related immunodeficiency HP:0002059 ORPHA:306550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306550 FADD-related immunodeficiency HP:0001629 ORPHA:306550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306550 FADD-related immunodeficiency HP:0004935 ORPHA:306550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306550 FADD-related immunodeficiency HP:0030057 ORPHA:306550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000750 ORPHA:352490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001249 ORPHA:352490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001999 ORPHA:352490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000160 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000252 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000286 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000316 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000322 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000347 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000369 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000431 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000486 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000520 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000722 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000729 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000733 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001263 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001290 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001328 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001488 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001518 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0002553 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0004322 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0008762 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0008872 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0012745 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0025112 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000023 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000028 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000278 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000463 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000582 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000752 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000964 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001250 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001257 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001276 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001347 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001537 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001627 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001631 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001760 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0002650 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0002803 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0002804 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0002808 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0004283 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0005274 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0006184 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0007018 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0009183 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0009473 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0012443 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0100021 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0100277 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0000169 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0000212 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0000271 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0000929 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0000940 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0001387 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0001482 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0001522 ORPHA:2028 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0001595 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0002797 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0003202 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0005876 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0008065 ORPHA:2028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0011024 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0200034 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2028 Juvenile hyaline fibromatosis HP:0200042 ORPHA:2028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome HP:0000169 ORPHA:2027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome HP:0000212 ORPHA:2027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome HP:0000407 ORPHA:2027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome HP:0000684 ORPHA:2027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000164 ORPHA:2026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000169 ORPHA:2026 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000212 ORPHA:2026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000280 ORPHA:2026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000574 ORPHA:2026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000664 ORPHA:2026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000684 ORPHA:2026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0001007 ORPHA:2026 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0001250 ORPHA:2026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0001251 ORPHA:2026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0002230 ORPHA:2026 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0002353 ORPHA:2026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0100543 ORPHA:2026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000169 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000212 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000218 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000232 ORPHA:2025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000256 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000316 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000430 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000494 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000574 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000664 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000684 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0002263 ORPHA:2025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0005280 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0006482 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0000819 ORPHA:36382 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0000822 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0000963 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0001065 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0001297 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0002076 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0002138 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0002315 ORPHA:36382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0002326 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0002381 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0002637 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0003119 ORPHA:36382 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0003401 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0003470 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0003549 ORPHA:36382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0004944 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0004968 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0005302 ORPHA:36382 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0005313 ORPHA:36382 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0010628 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0012158 ORPHA:36382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36382 Familial cervical artery dissection HP:0012163 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2024 Hereditary gingival fibromatosis HP:0000169 ORPHA:2024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2024 Hereditary gingival fibromatosis HP:0000212 ORPHA:2024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0002585 ORPHA:2023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0002814 ORPHA:2023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0030448 ORPHA:2023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0001945 ORPHA:2023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0003011 ORPHA:2023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0001824 ORPHA:2023 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0002039 ORPHA:2023 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0002817 ORPHA:2023 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0012378 ORPHA:2023 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0000028 ORPHA:2022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0000174 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0000347 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0000368 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0000506 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0000830 ORPHA:2022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0001250 ORPHA:2022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0001635 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0001706 ORPHA:2022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0001723 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0001852 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0001943 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0030680 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0008736 ORPHA:2022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0011039 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2022 Endocardial fibroelastosis HP:0100543 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000160 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000175 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000260 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000311 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000316 ORPHA:2021 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000364 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000369 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000463 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000470 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000494 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000520 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000772 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000773 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000774 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000882 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000885 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000940 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0000944 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0001156 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0001357 ORPHA:2021 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0001539 ORPHA:2021 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0001591 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0001804 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0002093 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0002983 ORPHA:2021 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0003312 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0004322 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0005280 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2021 Fibrochondrogenesis HP:0100490 ORPHA:2021 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0000264 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0000268 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0000679 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0000687 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0000691 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0001597 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0001808 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0002007 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0006285 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0009722 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0011001 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0011362 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0030312 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0030758 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0006485 ORPHA:3352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3352 Tricho-dento-osseous syndrome HP:0040019 ORPHA:3352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0000008 ORPHA:3353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0000684 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0000982 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0002209 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0002213 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0002299 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0002650 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0003272 ORPHA:3353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0003307 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0005338 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0006482 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0007565 ORPHA:3353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0008069 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0008499 ORPHA:3353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0011069 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0100840 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0009720 ORPHA:3353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0009804 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0200102 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0011923 ORPHA:99901 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001290 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001298 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001397 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001508 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001635 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001639 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001644 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001873 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001987 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0002151 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0002910 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003128 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003198 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003234 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003324 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003326 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003458 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003473 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0008151 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0008331 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0025435 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0045045 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001645 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001958 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0002181 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003215 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0006554 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0011695 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000218 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000276 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000347 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000365 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000601 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000716 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000739 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000750 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000767 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000786 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000836 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000870 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001256 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001265 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001270 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001290 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001310 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001321 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001337 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001510 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001761 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002073 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002075 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002355 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002650 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002750 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002761 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003326 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003391 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003458 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003474 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003557 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003701 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003737 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0004322 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0008180 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0009051 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0012032 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0012240 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0030319 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0030890 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0100874 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0100887 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000729 ORPHA:502423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0100753 ORPHA:502423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000543 ORPHA:502423 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000580 ORPHA:502423 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002197 ORPHA:36387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002121 ORPHA:36387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002373 ORPHA:36387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0001251 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0001252 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002069 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002123 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002311 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002376 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002539 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0007010 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0007058 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0010819 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0010850 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0011151 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0100543 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0000729 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0000739 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0001337 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0001763 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002067 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002133 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002384 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0003066 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0004684 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0007359 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0008770 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0100694 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002540 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002754 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002756 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002821 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0003693 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0007002 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0012735 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0100287 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0001324 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002141 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002270 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002936 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0007078 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0031060 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0000962 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0001026 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0001058 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002460 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0003376 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0006937 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0007021 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0007550 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0009027 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0009763 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0010829 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0010834 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0200042 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0000365 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002020 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52416 Mantle cell lymphoma HP:0001744 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52416 Mantle cell lymphoma HP:0001824 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52416 Mantle cell lymphoma HP:0002039 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52416 Mantle cell lymphoma HP:0002716 ORPHA:52416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52416 Mantle cell lymphoma HP:0005561 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52416 Mantle cell lymphoma HP:0011024 ORPHA:52416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52416 Mantle cell lymphoma HP:0012378 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52416 Mantle cell lymphoma HP:0001945 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52416 Mantle cell lymphoma HP:0012191 ORPHA:52416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0000618 ORPHA:85336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0001250 ORPHA:85336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0001257 ORPHA:85336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0001263 ORPHA:85336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0001522 ORPHA:85336 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0010864 ORPHA:85336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0000505 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0000614 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0000820 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0001824 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0001903 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0001945 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0002017 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0002027 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0002113 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0002205 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0002716 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0012191 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0012378 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0100721 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0000975 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0002019 ORPHA:52417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52417 MALT lymphoma HP:0012123 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0000802 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0002019 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0002574 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0003401 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0003418 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0011848 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0030016 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0030155 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0030943 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0100515 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0100518 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0000989 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0003474 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0007379 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0010787 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0030439 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0100785 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:60039 Pudendal neuralgia HP:0410019 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome HP:0001250 ORPHA:85338 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome HP:0001251 ORPHA:85338 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome HP:0001256 ORPHA:85338 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome HP:0001762 ORPHA:85338 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome HP:0002186 ORPHA:85338 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85332 X-linked intellectual disability-retinitis pigmentosa syndrome HP:0001249 ORPHA:85332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85332 X-linked intellectual disability-retinitis pigmentosa syndrome HP:0007730 ORPHA:85332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0000608 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001249 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001251 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001263 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001274 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001290 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001522 ORPHA:85334 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0002123 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0006538 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0200134 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0001609 ORPHA:60032 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0001618 ORPHA:60032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002098 ORPHA:60032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002778 ORPHA:60032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0001508 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002015 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002093 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002094 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002105 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002781 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002788 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002789 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0006532 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0010307 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0030828 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0031246 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0001279 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0001945 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002088 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002779 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0002860 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0030842 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60032 Recurrent respiratory papillomatosis HP:0100750 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0000218 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0000238 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0000276 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0000280 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0000322 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0000365 ORPHA:85335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0000400 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0000587 ORPHA:85335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0000718 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0000729 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0001252 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0001263 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0001264 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0001288 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0001317 ORPHA:85335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0002342 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0002465 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0002514 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0002650 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0002684 ORPHA:85335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85335 Fried syndrome HP:0003202 ORPHA:85335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0002110 ORPHA:60033 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0002795 ORPHA:60033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0011947 ORPHA:60033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0031245 ORPHA:60033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0002094 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0002105 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0002783 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0005376 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0030828 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0030830 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0030877 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0100749 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0001658 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0001945 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0002097 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0004326 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0011949 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0100812 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60033 Idiopathic bronchiectasis HP:0001217 ORPHA:60033 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2017 Sternal cleft HP:0000464 ORPHA:2017 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2017 Sternal cleft HP:0000465 ORPHA:2017 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2017 Sternal cleft HP:0000478 ORPHA:2017 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2017 Sternal cleft HP:0000504 ORPHA:2017 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000160 ORPHA:2016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000175 ORPHA:2016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000232 ORPHA:2016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000293 ORPHA:2016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000347 ORPHA:2016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000581 ORPHA:2016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0001608 ORPHA:2016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0010285 ORPHA:2016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000175 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000219 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000286 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000347 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000368 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000463 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000470 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0001249 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0003196 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0003468 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0004322 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000154 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000238 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000256 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000293 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000324 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000348 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000490 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000648 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000965 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001034 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001052 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001161 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001249 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001252 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001263 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001508 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001770 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001829 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002007 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002119 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002126 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002308 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0030680 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002637 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002664 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0005280 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0005692 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0006101 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0007360 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0011675 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0012639 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0100026 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0100555 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0100585 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0100761 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0000505 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0000654 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0000662 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0001133 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0007722 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0007760 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0030491 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0031528 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0200065 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0000551 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0000580 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0000603 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0000618 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0001129 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0001141 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0007814 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0011505 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0030329 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:41751 Bietti crystalline dystrophy HP:0030528 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000047 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000175 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000212 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000252 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000347 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000400 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000411 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000508 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000767 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0001252 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0001263 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0001800 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0002750 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0003202 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0004322 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0004428 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0006709 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0009465 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0009882 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0000175 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0000413 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0000506 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0003019 ORPHA:2010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0003028 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0008368 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0008513 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0009702 ORPHA:2010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0012225 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0001608 ORPHA:99977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0001864 ORPHA:99977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0002017 ORPHA:99977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0002716 ORPHA:99977 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0008872 ORPHA:99977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0011459 ORPHA:99977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0012735 ORPHA:99977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0100749 ORPHA:99977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99978 Klatskin tumor HP:0000952 ORPHA:99978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99978 Klatskin tumor HP:0001824 ORPHA:99978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99978 Klatskin tumor HP:0001945 ORPHA:99978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99978 Klatskin tumor HP:0002027 ORPHA:99978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99978 Klatskin tumor HP:0002240 ORPHA:99978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99978 Klatskin tumor HP:0002716 ORPHA:99978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99978 Klatskin tumor HP:0004936 ORPHA:99978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99978 Klatskin tumor HP:0012334 ORPHA:99978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99978 Klatskin tumor HP:0012378 ORPHA:99978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99978 Klatskin tumor HP:0030153 ORPHA:99978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001635 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002616 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002617 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0004942 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0005344 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0100545 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0100585 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000023 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000276 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000316 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000400 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000963 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000974 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001363 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002647 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0004415 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0005692 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0008501 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0010668 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0012378 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0100541 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000256 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000272 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000486 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000545 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000563 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000581 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0000822 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001119 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001166 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001249 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001252 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001263 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001328 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001385 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001582 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001637 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001639 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001644 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001658 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001695 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0001838 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002020 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002021 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002036 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002094 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002098 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002650 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002673 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002812 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002827 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0002878 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0003196 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0004209 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0005743 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0006543 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0007495 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0011302 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0012745 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0012819 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3342 Arterial tortuosity syndrome HP:0100633 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0005616 ORPHA:420179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000098 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000256 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000275 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000300 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000348 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000486 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000494 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000767 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0001319 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0002079 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0002119 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0002162 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0002342 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0003100 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0008872 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0011220 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000160 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000218 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000307 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000324 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000490 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000543 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000639 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0000739 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0001250 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0001256 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0001357 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0002007 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0002076 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0002131 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0002365 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0002650 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0005280 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0006956 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0007766 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0010864 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420179 Malan overgrowth syndrome HP:0030799 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0000820 ORPHA:3344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0001249 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0001903 ORPHA:3344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0002650 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0002808 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0002823 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0002980 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0002982 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0002991 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0002992 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0040071 ORPHA:3344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0003063 ORPHA:3344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0003103 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0003177 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0003272 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0003312 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0003510 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0006487 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0006501 ORPHA:3344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3344 Weismann-Netter syndrome HP:0010502 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3346 Tracheal agenesis HP:0001561 ORPHA:3346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3346 Tracheal agenesis HP:0001671 ORPHA:3346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3346 Tracheal agenesis HP:0002093 ORPHA:3346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3346 Tracheal agenesis HP:0006703 ORPHA:3346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3346 Tracheal agenesis HP:0100682 ORPHA:3346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2019 Femur-fibula-ulna complex HP:0001171 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2019 Femur-fibula-ulna complex HP:0002823 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2019 Femur-fibula-ulna complex HP:0002983 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2019 Femur-fibula-ulna complex HP:0040071 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2019 Femur-fibula-ulna complex HP:0003041 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2019 Femur-fibula-ulna complex HP:0004322 ORPHA:2019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2019 Femur-fibula-ulna complex HP:0005792 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2019 Femur-fibula-ulna complex HP:0006101 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2019 Femur-fibula-ulna complex HP:0006501 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2019 Femur-fibula-ulna complex HP:0009811 ORPHA:2019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3347 Mounier-Kühn syndrome HP:0002086 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3347 Mounier-Kühn syndrome HP:0002090 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3347 Mounier-Kühn syndrome HP:0002205 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3347 Mounier-Kühn syndrome HP:0002777 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3347 Mounier-Kühn syndrome HP:0006538 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3347 Mounier-Kühn syndrome HP:0010776 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3347 Mounier-Kühn syndrome HP:0012387 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99976 Adenocarcinoma of the esophagus HP:0001513 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99976 Adenocarcinoma of the esophagus HP:0001864 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99976 Adenocarcinoma of the esophagus HP:0002017 ORPHA:99976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99976 Adenocarcinoma of the esophagus HP:0002020 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99976 Adenocarcinoma of the esophagus HP:0002716 ORPHA:99976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99976 Adenocarcinoma of the esophagus HP:0008872 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99976 Adenocarcinoma of the esophagus HP:0011459 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99976 Adenocarcinoma of the esophagus HP:0012735 ORPHA:99976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99976 Adenocarcinoma of the esophagus HP:0100580 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99976 Adenocarcinoma of the esophagus HP:0100749 ORPHA:99976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000590 ORPHA:352447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000508 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001265 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001611 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001618 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001644 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002015 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002018 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002094 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002719 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002808 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002878 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003198 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003200 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003236 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003306 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003388 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003546 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003700 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0008443 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0030319 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0040013 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000787 ORPHA:352447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002747 ORPHA:352447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0004396 ORPHA:352447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000252 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000815 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001249 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001272 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002014 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0011675 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000651 ORPHA:352447 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002787 ORPHA:3348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0031245 ORPHA:3348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0001945 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002090 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002205 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002777 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002781 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002875 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0005607 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0012387 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0025426 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0032016 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0100593 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0001609 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002105 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0006532 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0010307 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0030828 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0031352 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0100633 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0100749 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002093 ORPHA:3348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0100750 ORPHA:3348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99971 Well-differentiated liposarcoma HP:0001482 ORPHA:99971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99971 Well-differentiated liposarcoma HP:0002579 ORPHA:99971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99971 Well-differentiated liposarcoma HP:0012211 ORPHA:99971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000194 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000252 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000276 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000325 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000331 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000348 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000411 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000718 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0001263 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0001288 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0001290 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0001999 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0002187 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0002353 ORPHA:85329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0003189 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0003198 ORPHA:85329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0003202 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0004322 ORPHA:85329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0011968 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26137 Juvenile temporal arteritis HP:0001974 ORPHA:26137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26137 Juvenile temporal arteritis HP:0002315 ORPHA:26137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26137 Juvenile temporal arteritis HP:0200036 ORPHA:26137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26137 Juvenile temporal arteritis HP:0000509 ORPHA:26137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26137 Juvenile temporal arteritis HP:0001880 ORPHA:26137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26137 Juvenile temporal arteritis HP:0003193 ORPHA:26137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26137 Juvenile temporal arteritis HP:0002633 ORPHA:26137 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:26137 Juvenile temporal arteritis HP:0002637 ORPHA:26137 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0000529 ORPHA:52427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0000662 ORPHA:52427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0008323 ORPHA:52427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0030506 ORPHA:52427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0030825 ORPHA:52427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0000603 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0000613 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0007675 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0007814 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0007843 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0007987 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0007994 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0001105 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0001142 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0007401 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0008527 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0011505 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0031605 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52427 Retinitis punctata albescens HP:0000580 ORPHA:52427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001249 ORPHA:261652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001263 ORPHA:261652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001999 ORPHA:261652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000078 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000708 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001548 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001627 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002719 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0410263 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000023 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000076 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000077 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000179 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000252 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000365 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000729 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000750 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001250 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001270 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001321 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001508 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001520 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002020 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002079 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002119 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002194 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002463 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002500 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0004322 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0006863 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0009909 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0011351 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0011800 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0100716 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0200005 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000164 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000248 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000519 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000540 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000695 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000826 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000974 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001182 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001252 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001357 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001537 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002023 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002171 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002779 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000324 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000347 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000356 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000359 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000384 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000405 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000407 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000413 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0004467 ORPHA:52429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0008609 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0009795 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0010628 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000175 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000365 ORPHA:52429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0000614 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52429 Branchiootic syndrome HP:0100267 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0000098 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0000377 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0000391 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0000574 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0000691 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001176 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001182 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001252 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001263 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001284 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001513 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001833 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001999 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0002342 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0002857 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0007477 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0009928 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0010761 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0010804 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0010864 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0011968 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0100540 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000272 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000316 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000343 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000349 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000455 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000463 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0001249 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0002003 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0002007 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0004209 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0004322 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85326 X-linked intellectual disability, Stoll type HP:0005281 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0009745 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0030353 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0003564 ORPHA:85327 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0000053 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0000325 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0000718 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0000752 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0000845 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0001260 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0002187 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0003189 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0007361 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000028 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000048 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000083 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000089 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000110 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000154 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000164 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000179 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000232 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000252 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000272 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000286 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000347 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000369 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000407 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000431 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000506 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000518 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000545 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000581 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000689 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000821 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0001537 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0001876 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0002342 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0004322 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0006610 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0006709 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0007477 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0008736 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0010864 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0100585 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0000023 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0000028 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0000034 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0000160 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0000286 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0000411 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0000426 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0000750 ORPHA:85322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0001182 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0001250 ORPHA:85322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0001263 ORPHA:85322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0001276 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0001288 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0001511 ORPHA:85322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0002205 ORPHA:85322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0002510 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0002750 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85322 X-linked intellectual disability, Pai type HP:0010864 ORPHA:85322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0000735 ORPHA:329249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0000842 ORPHA:329249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0001513 ORPHA:329249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0002591 ORPHA:329249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0004322 ORPHA:329249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0000718 ORPHA:329249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0000750 ORPHA:329249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0008763 ORPHA:329249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0002910 ORPHA:329249 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0003074 ORPHA:329249 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0003077 ORPHA:329249 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:458798 Spinocerebellar ataxia type 41 HP:0002066 ORPHA:458798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458798 Spinocerebellar ataxia type 41 HP:0002172 ORPHA:458798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458798 Spinocerebellar ataxia type 41 HP:0006855 ORPHA:458798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000028 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000135 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000252 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000278 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000286 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000316 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000400 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000519 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0001249 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0001250 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0001518 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0002191 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0003202 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0009004 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000218 ORPHA:85323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0001627 ORPHA:85323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0000252 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0000348 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0000486 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0004322 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0010864 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0004279 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0008749 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0011968 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0012745 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0030680 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000014 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000036 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000039 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000047 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000625 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001999 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000502 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001140 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001274 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001331 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0007440 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0008065 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0012639 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000069 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000256 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000286 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000365 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000463 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000486 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000506 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000520 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000581 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000598 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001156 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001252 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001508 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001510 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001561 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001626 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0002251 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0003196 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0008751 ORPHA:2004 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0000961 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0001601 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0001608 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0001615 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0002094 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0002205 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0002835 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0010307 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0012735 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0030842 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0031162 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2004 Laryngotracheoesophageal cleft HP:0002643 ORPHA:2004 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0000324 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0000457 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0001251 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0002209 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0002435 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0002744 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0002827 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0005273 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0008625 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0009804 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0012033 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0100335 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0100559 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0000316 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0000347 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0000470 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0000582 ORPHA:2001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0001643 ORPHA:2001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0001679 ORPHA:2001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0030680 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0002566 ORPHA:2001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0002744 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0004209 ORPHA:2001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0004383 ORPHA:2001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0005469 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0010297 ORPHA:2001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0011304 ORPHA:2001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0012368 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0000238 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0000256 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0000737 ORPHA:99966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0000741 ORPHA:99966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0001250 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0001251 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0001324 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0001376 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0002017 ORPHA:99966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0002076 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0002514 ORPHA:99966 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0004372 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0004374 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0006824 ORPHA:99966 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0100021 ORPHA:99966 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0100836 ORPHA:99966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99967 Myxoid/round cell liposarcoma HP:0001482 ORPHA:99967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99967 Myxoid/round cell liposarcoma HP:0002027 ORPHA:99967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99967 Myxoid/round cell liposarcoma HP:0002579 ORPHA:99967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99969 Pleomorphic liposarcoma HP:0012034 ORPHA:99969 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99969 Pleomorphic liposarcoma HP:0001482 ORPHA:99969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0003347 ORPHA:35078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0005354 ORPHA:35078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0005403 ORPHA:35078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0031381 ORPHA:35078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0001888 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0002028 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0002205 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0005390 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0009098 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0040219 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0000371 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0001531 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0002850 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0004315 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0004798 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0004429 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0006532 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0010976 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0011837 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0200039 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0000143 ORPHA:35078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0000953 ORPHA:35078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0000988 ORPHA:35078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0001433 ORPHA:35078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0001999 ORPHA:35078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000506 ORPHA:572333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000508 ORPHA:572333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000537 ORPHA:572333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000581 ORPHA:572333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000322 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000369 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000431 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000539 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000633 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000646 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0007656 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0011481 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000013 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000144 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000147 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000486 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000574 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000656 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000815 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000869 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000876 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0002553 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0007732 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0007835 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0008209 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0008214 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0008222 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0008232 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0008233 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0010464 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0010748 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0011969 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0025572 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0032514 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000639 ORPHA:572333 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000028 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000047 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000175 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000204 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000316 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000348 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000369 ORPHA:2008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000431 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000520 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000527 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0000836 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0005916 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001171 ORPHA:2008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001249 ORPHA:2008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001250 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001252 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001276 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001373 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001511 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001522 ORPHA:2008 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001629 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001631 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001636 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001660 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001680 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001718 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001770 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001822 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001829 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0001839 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0002023 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0002120 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0006101 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0008736 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0008872 ORPHA:2008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0100490 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2008 Acrocardiofacial syndrome HP:0100589 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002460 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002515 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003236 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003307 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003458 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003557 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003701 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003805 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0012083 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0000925 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002145 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002797 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003155 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0004322 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0012444 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0030838 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0000518 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0001249 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0001293 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0001397 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0001635 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0001638 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002300 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002380 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002381 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002442 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002450 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002463 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002493 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002683 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002659 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002839 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003390 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003444 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003445 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003700 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0004347 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0004490 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0007002 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0007354 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0011314 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0012548 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002756 ORPHA:52430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000316 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000430 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000431 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000444 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000506 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0003191 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0100335 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0003457 ORPHA:99965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0003484 ORPHA:99965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0008954 ORPHA:99965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0030237 ORPHA:99965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0001337 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0002380 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0003444 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0006827 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0012531 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0031372 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0001880 ORPHA:99965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0010702 ORPHA:99965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0003474 ORPHA:99965 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99965 O'Sullivan-McLeod syndrome HP:0040272 ORPHA:99965 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0000117 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0001510 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002049 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002909 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003076 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003126 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003149 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003646 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0004910 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0004918 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0001324 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0001824 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002148 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002653 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002659 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002749 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002900 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003081 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003234 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003537 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0004912 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0012606 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0012622 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0001944 ORPHA:3337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002150 ORPHA:3337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003774 ORPHA:3337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0001943 ORPHA:3337 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002206 ORPHA:3337 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000252 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000308 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000486 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001252 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001257 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001274 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001320 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001339 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002069 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002079 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002198 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002365 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0025101 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0034051 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000609 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000639 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001302 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001338 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002126 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0006989 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0007359 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0012469 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0012650 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0025517 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0031882 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002251 ORPHA:171680 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001263 ORPHA:171680 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002119 ORPHA:171680 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0025102 ORPHA:171680 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0000077 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0000763 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0000925 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0001014 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0001052 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0001347 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0001635 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002143 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002385 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002390 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002653 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002751 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002829 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002839 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0006773 ORPHA:53721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0012378 ORPHA:53721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0100026 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0100758 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0100761 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0100764 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0000280 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0001249 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0001250 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0001263 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0001290 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0002828 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0005876 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0008872 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000175 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000303 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000316 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000322 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000336 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000411 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000664 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000998 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0001250 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0001251 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0001272 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0001288 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0001324 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0002342 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0002344 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0002650 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0002808 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0004313 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0005487 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0007598 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0009830 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0002697 ORPHA:60015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0000932 ORPHA:60015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0002013 ORPHA:60015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0002315 ORPHA:60015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0012721 ORPHA:60015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0100809 ORPHA:60015 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0000175 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0000894 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0001249 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0001250 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0001363 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0002085 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0002475 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0002762 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0007385 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0008497 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0011304 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0012480 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0040197 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60015 Enlarged parietal foramina HP:0410030 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000023 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000028 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000076 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000126 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000218 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000238 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000252 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000286 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000343 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000407 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000414 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000431 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000486 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000490 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000518 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000568 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000612 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000716 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000717 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0000739 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001161 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001249 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001250 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001252 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001263 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001274 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001508 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001511 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001643 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001671 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001762 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001770 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001773 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0001829 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0002007 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0002360 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0002650 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0004209 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0004322 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0005692 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0007018 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0008499 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0010059 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0010296 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0011304 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0011611 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250989 1q21.1 microdeletion syndrome HP:0100753 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000028 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000078 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000175 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000176 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000271 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000280 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000430 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000455 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000486 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000490 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000525 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000582 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000601 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000708 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000776 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0000815 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0001249 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0001250 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0001263 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0001319 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0001360 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0001510 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0004322 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0001762 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0001792 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0002011 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0002007 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0002089 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0005280 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0011344 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0011447 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250999 1q41q42 microdeletion syndrome HP:0012471 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0000083 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0000123 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0000407 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0001250 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0001336 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0001350 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0001873 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0002470 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0009127 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0009798 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3327 Thyrocerebrorenal syndrome HP:0001249 ORPHA:3327 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0000396 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001156 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001162 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001171 ORPHA:3329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001177 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001376 ORPHA:3329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001539 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0002823 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0002980 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0002991 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0003038 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0003097 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0005772 ORPHA:3329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0006101 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0006443 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0006495 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0009756 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0100257 ORPHA:3329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome HP:0000053 ORPHA:85320 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome HP:0000256 ORPHA:85320 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome HP:0002342 ORPHA:85320 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0000028 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0000047 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0000238 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0000256 ORPHA:250994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0000316 ORPHA:250994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0000486 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0000501 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0000518 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0000717 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0000738 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0001249 ORPHA:250994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0001250 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0001252 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0001263 ORPHA:250994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0001276 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0001385 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0001508 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0001636 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0001762 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0002007 ORPHA:250994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0002020 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0002804 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0002827 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0007018 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250994 1q21.1 microduplication syndrome HP:0100753 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000077 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000085 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000119 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000151 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000175 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000337 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000347 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000348 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000368 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000407 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000891 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0001181 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0001636 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0001671 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0001873 ORPHA:3320 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0001928 ORPHA:3320 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002650 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002673 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002827 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002949 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002970 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002990 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002999 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0003974 ORPHA:3320 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0004209 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0004717 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0006101 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0006495 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0006498 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0006507 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0007413 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0009829 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0011304 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0100694 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001760 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002355 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002522 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0004336 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0007010 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0007230 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0007340 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0008959 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0009053 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000501 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001605 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001618 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001761 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002650 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002751 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002936 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0008994 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0012046 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000183 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000407 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000508 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000518 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000557 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000648 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000729 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001026 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001087 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001270 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001328 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001337 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001763 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002093 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002540 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002792 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0003401 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0008997 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0012473 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0030237 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0030319 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0030051 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0000252 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001249 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001251 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001263 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001265 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001276 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001321 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001508 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001511 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001873 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001881 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001903 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001928 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002119 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002120 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002209 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002216 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002514 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002664 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002721 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002745 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0004322 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0004334 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0005528 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0007392 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0007440 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0008404 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0011358 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002099 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002205 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002718 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002719 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002783 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002788 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002960 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0032169 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0000010 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0000403 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0001047 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0001369 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002090 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002110 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002720 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002725 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002829 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002850 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0003193 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0003326 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0004315 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0005231 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0006532 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0011109 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0011110 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0012378 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0012387 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0020096 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0000031 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0000819 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0000988 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0001082 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0001370 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002608 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002665 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0003765 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0005353 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0006562 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0012476 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0030151 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0030998 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0032262 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0032275 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0100324 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0100523 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0100806 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0500093 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0001907 ORPHA:3325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0001973 ORPHA:3325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0100724 ORPHA:3325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0002625 ORPHA:3325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0003144 ORPHA:3325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0004420 ORPHA:3325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0004936 ORPHA:3325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0001297 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0001658 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0002204 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0002637 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0005521 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0012649 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0030248 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3325 Heparin-induced thrombocytopenia HP:0040231 ORPHA:3325 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0001284 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0001760 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002495 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002936 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0003431 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0003477 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0003409 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0007108 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0007230 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0009053 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0011096 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0012078 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0001155 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0001761 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0001762 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002355 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0003693 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0003701 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0007210 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0008959 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0009129 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0010830 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002141 ORPHA:99953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002505 ORPHA:99953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002650 ORPHA:99953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0007328 ORPHA:99953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0008081 ORPHA:99953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0003431 ORPHA:99950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0007078 ORPHA:99950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0007108 ORPHA:99950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0009053 ORPHA:99950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0000407 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0001270 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0001760 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002317 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002460 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0007210 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0001171 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0001761 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0001765 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002174 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002540 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002751 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002936 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0003474 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0003701 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0008959 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0009129 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0032649 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002912 ORPHA:289504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0003215 ORPHA:289504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0012120 ORPHA:289504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0040145 ORPHA:289504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001250 ORPHA:289504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0000252 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0000708 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0000750 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001263 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001298 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001332 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001508 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001941 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001943 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001944 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001993 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002013 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002076 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002254 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002354 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002384 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002910 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0008936 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0011169 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0031064 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0040288 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002091 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002094 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0005317 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0012378 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0030874 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0031246 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0032094 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0100749 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0000961 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0001708 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0001824 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002093 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002105 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002107 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002110 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002113 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002240 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002789 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002875 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0003473 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0012398 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0012418 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0025178 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0030879 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0031944 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0100759 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0000144 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0000790 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0001945 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002206 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002878 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0004241 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0004382 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0004724 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0004963 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0008703 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0010766 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0011947 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0012215 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0012387 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0025179 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0004363 ORPHA:60025 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:60025 Pulmonary alveolar microlithiasis HP:0100529 ORPHA:60025 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0002729 ORPHA:60026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0012735 ORPHA:60026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0025392 ORPHA:60026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0030150 ORPHA:60026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0100721 ORPHA:60026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0002094 ORPHA:60026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0025179 ORPHA:60026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0100749 ORPHA:60026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0002721 ORPHA:60026 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0030057 ORPHA:60026 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001300 ORPHA:171695 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0007256 ORPHA:171695 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0000011 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0000338 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0000514 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001257 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001332 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001336 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001347 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001762 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002015 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002063 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002067 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002080 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002172 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002360 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002362 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002367 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0012332 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0003487 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0011960 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0031435 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0100543 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0000726 ORPHA:171695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0100315 ORPHA:171695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0000252 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0001317 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0002060 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0002119 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0002472 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0002538 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0009879 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0012444 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0012757 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0000003 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0000175 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0000204 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0000268 ORPHA:3316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0000316 ORPHA:3316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0000348 ORPHA:3316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0000494 ORPHA:3316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0001562 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0030680 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0004383 ORPHA:3316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3316 Thomas syndrome HP:0008678 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000098 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000193 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000202 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000218 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000272 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000316 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000347 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000592 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000767 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000768 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000963 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000978 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0000987 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0001065 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0001166 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0001363 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0001373 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0001643 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0001695 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0001763 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0001892 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0002617 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0002647 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0002650 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0004942 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0005116 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0005294 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0005692 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0100490 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:60030 Loeys-Dietz syndrome HP:0100718 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0001658 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0001744 ORPHA:3318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0001872 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0002326 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0002488 ORPHA:3318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0002863 ORPHA:3318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0003010 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0003401 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0004420 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0005513 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0005561 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0011875 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0011974 ORPHA:3318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0100576 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0100659 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0100749 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3318 Essential thrombocythemia HP:0004936 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0000280 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0000470 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0000995 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0001671 ORPHA:3319 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0001873 ORPHA:3319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0001903 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0002650 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0003312 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0004322 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0004331 ORPHA:3319 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0011902 ORPHA:3319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000750 ORPHA:329224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001249 ORPHA:329224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001263 ORPHA:329224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001999 ORPHA:329224 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000028 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000316 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000369 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000411 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000414 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000494 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000527 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001250 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001488 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001508 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002019 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002553 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0008947 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0012443 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0012523 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0025160 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000023 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000154 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000219 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000252 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000294 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000319 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000400 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000589 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000664 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000699 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000729 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000767 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000954 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001195 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001238 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001260 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001272 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001321 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001344 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001537 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001629 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001631 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001643 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001647 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001655 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001763 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002020 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002317 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002389 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002650 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002714 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002951 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0004209 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0005421 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0006610 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0010821 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0011304 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0012210 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0040288 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000175 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000272 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000347 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000407 ORPHA:250984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000483 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000518 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000541 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000545 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000646 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0007773 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000926 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0002656 ORPHA:250984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0002857 ORPHA:250984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0003301 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0004322 ORPHA:250984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0005692 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0005930 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250984 Autosomal recessive Stickler syndrome HP:0012368 ORPHA:250984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0000762 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001760 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001761 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002460 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002936 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0003457 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0003693 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0007010 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0007015 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001270 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001284 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001604 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001609 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001765 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001776 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002317 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002540 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0003387 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0006064 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0006248 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0006858 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0006886 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0006937 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0007267 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0007328 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0009072 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0009473 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0012391 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0030237 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002091 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002359 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002650 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0003547 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0003731 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0007108 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0008443 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0008935 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0009109 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0012078 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0030319 ORPHA:99948 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35093 Non-syndromic sagittal craniosynostosis HP:0000268 ORPHA:35093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35093 Non-syndromic sagittal craniosynostosis HP:0000269 ORPHA:35093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35093 Non-syndromic sagittal craniosynostosis HP:0002007 ORPHA:35093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35093 Non-syndromic sagittal craniosynostosis HP:0002516 ORPHA:35093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001760 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002355 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003380 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003431 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003444 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0004302 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007108 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007141 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001284 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001308 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001761 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001765 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002066 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002359 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002460 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002650 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003326 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003394 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003693 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0006886 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0008443 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0009027 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0000183 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0000407 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0000587 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0000639 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001260 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001272 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001385 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001508 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001604 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001763 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002093 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002307 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002346 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002403 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002540 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002791 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007209 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007328 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007695 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0009916 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0010871 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0012473 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0030319 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0000648 ORPHA:99949 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007994 ORPHA:99949 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0008081 ORPHA:99949 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0100661 ORPHA:99949 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0000762 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0001288 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0002460 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0002936 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0003202 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0003701 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0009130 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0011096 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0011675 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0001270 ORPHA:99944 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000316 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000347 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000363 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000486 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000490 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000494 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000545 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000646 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000750 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001263 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000444 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0030434 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000010 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000028 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000110 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000126 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000175 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000193 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000218 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000238 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000239 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000286 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000414 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000470 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000532 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000577 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000639 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000678 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000682 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000789 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000798 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000882 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000921 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000952 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000960 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001250 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001290 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001302 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001305 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001328 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001369 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001373 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001511 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001528 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001633 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001671 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001701 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001762 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0002126 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0002143 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0002714 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0002725 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0004209 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0005562 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0005912 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0006710 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0007598 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0008501 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0011044 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0011467 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0012378 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0030031 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0030880 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0040262 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0100614 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0200055 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000054 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000085 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000256 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000322 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000705 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000719 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000729 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0000752 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001339 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001537 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001651 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0001655 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0002089 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0002092 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0011646 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3310 Tetrasomy 9p HP:0011968 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0003281 ORPHA:139507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0001395 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0002614 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0006562 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0012115 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0012463 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0012465 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0000078 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0000819 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0001397 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0001402 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0001413 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0001627 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0001635 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0002240 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0003118 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0011732 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0011772 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0012090 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0012852 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0031035 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0100510 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0000939 ORPHA:139507 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0002586 ORPHA:139507 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:139507 African iron overload HP:0011459 ORPHA:139507 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001760 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003390 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003438 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003444 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003474 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0009027 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001155 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001761 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002359 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002378 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002495 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002522 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002601 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002936 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003394 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003551 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0006460 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0007010 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0007328 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0009046 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0009053 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0010829 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0025238 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0030237 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001371 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001605 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001609 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001618 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002143 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002174 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003376 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003401 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003487 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003731 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0006844 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0006915 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0008944 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0012452 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0012513 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0031108 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0000238 ORPHA:99947 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0000407 ORPHA:99947 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0000648 ORPHA:99947 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0000662 ORPHA:99947 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002650 ORPHA:99947 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0000356 ORPHA:3312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0000365 ORPHA:3312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0000855 ORPHA:3312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0001171 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0001177 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0001199 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0002257 ORPHA:3312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0030680 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0002991 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0004059 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0004322 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0005613 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0006495 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0006507 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0009601 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0009813 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3312 Thalidomide embryopathy HP:0009892 ORPHA:3312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0001315 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0001762 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0003376 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0003444 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0003445 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0003477 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0007289 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0007328 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0007340 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0008944 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0009129 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0010829 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3314 Thiemann disease, familial form HP:0000944 ORPHA:3314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3314 Thiemann disease, familial form HP:0001156 ORPHA:3314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3314 Thiemann disease, familial form HP:0001376 ORPHA:3314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3314 Thiemann disease, familial form HP:0005930 ORPHA:3314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3314 Thiemann disease, familial form HP:0010885 ORPHA:3314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0000248 ORPHA:35099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0000316 ORPHA:35099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0000337 ORPHA:35099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0000365 ORPHA:35099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0000520 ORPHA:35099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0001156 ORPHA:35099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0001249 ORPHA:35099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0002516 ORPHA:35099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0009701 ORPHA:35099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0009891 ORPHA:35099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0011800 ORPHA:35099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0000126 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0000175 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0000252 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0000322 ORPHA:3305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0000347 ORPHA:3305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0000384 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0000444 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0001511 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0002308 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0002916 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0004059 ORPHA:3305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0004422 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0006703 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0008056 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0008678 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0010515 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3305 Tetraploidy HP:0100720 ORPHA:3305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0000965 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0000967 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0000979 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0001324 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0001945 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0002633 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0012224 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0100721 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0100778 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0200042 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0000083 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0000093 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0000790 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0001369 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0001392 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0001744 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0002027 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0002240 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0002829 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0003326 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0005244 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0006562 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0007141 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0009830 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0009831 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0100758 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0100820 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0001097 ORPHA:91138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91138 Cryoglobulinemic vasculitis HP:0002239 ORPHA:91138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250977 AICA-ribosiduria HP:0000063 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250977 AICA-ribosiduria HP:0000154 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250977 AICA-ribosiduria HP:0000219 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250977 AICA-ribosiduria HP:0000248 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250977 AICA-ribosiduria HP:0000369 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250977 AICA-ribosiduria HP:0001250 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250977 AICA-ribosiduria HP:0007875 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250977 AICA-ribosiduria HP:0008665 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250977 AICA-ribosiduria HP:0010864 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250977 AICA-ribosiduria HP:0011220 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0001513 ORPHA:71528 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0009126 ORPHA:71528 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0002591 ORPHA:71528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0001010 ORPHA:71528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0001396 ORPHA:71528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0002297 ORPHA:71528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0008915 ORPHA:71528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0011734 ORPHA:71528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0000823 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0000824 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0000842 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0000956 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0001508 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0001510 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0002173 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0002750 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0008213 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0008245 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0001513 ORPHA:71529 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0009126 ORPHA:71529 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0002591 ORPHA:71529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0008915 ORPHA:71529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0000822 ORPHA:71529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0000842 ORPHA:71529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0000956 ORPHA:71529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0002155 ORPHA:71529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0005978 ORPHA:71529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000729 ORPHA:3306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001290 ORPHA:3306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001382 ORPHA:3306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0002307 ORPHA:3306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000733 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000752 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001250 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0006863 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0010529 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0011352 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0011968 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0012169 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0012758 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000135 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000218 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000248 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000252 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000322 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000368 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000455 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000486 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000490 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000494 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000664 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000718 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001156 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001510 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001999 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0004209 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0004691 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000286 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0012443 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000028 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000122 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000133 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000826 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001629 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001636 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001762 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0100790 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0002007 ORPHA:3306 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0000160 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0000233 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0000252 ORPHA:3307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0000271 ORPHA:3307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0000286 ORPHA:3307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0000324 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0000343 ORPHA:3307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0000368 ORPHA:3307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0000494 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0001176 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0001249 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0001250 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0001279 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0001288 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0002269 ORPHA:3307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0002571 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0002650 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3307 Tetrasomy 18p HP:0003196 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0000979 ORPHA:91139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0001871 ORPHA:91139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0410135 ORPHA:91139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0001955 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0003496 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0006121 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0007067 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0007141 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0009830 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0011355 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0012378 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0030880 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0031047 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0032018 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0000077 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0000083 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0000093 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0000793 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0000822 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0001369 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0001824 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0002633 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0002829 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0002907 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0003401 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0005508 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0006775 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0010833 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0011276 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0012191 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0012574 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0032290 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0000100 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0000123 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0001250 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0001297 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0001627 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0001635 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0001658 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0001701 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0002011 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0002027 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0002088 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0002239 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0002315 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0002344 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0002923 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0004302 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0004431 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0005550 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0006562 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0006824 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0011024 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91139 Simple cryoglobulinemia HP:0032335 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000238 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000256 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000280 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000293 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000347 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000358 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000463 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000767 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000961 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0001250 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0001263 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0001319 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0001321 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0001635 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0001845 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0002092 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0003196 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0006931 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0011800 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0012368 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0100807 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000316 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000343 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000369 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000431 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000470 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000582 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0001508 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0001762 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0002205 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0002098 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0004209 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0004467 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0005989 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0008897 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0010109 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0030148 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000218 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000260 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0001612 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0002089 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0007483 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0000286 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3309 Tetrasomy 5p HP:0010318 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0000609 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0000707 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0001250 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0001265 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0001319 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0001344 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0002126 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0011344 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0030048 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0001274 ORPHA:250972 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0002069 ORPHA:250972 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0002365 ORPHA:250972 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0006989 ORPHA:250972 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0012469 ORPHA:250972 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0001513 ORPHA:71526 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0009126 ORPHA:71526 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0002591 ORPHA:71526 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0001010 ORPHA:71526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0001396 ORPHA:71526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0002297 ORPHA:71526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0008915 ORPHA:71526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0011734 ORPHA:71526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0000823 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0000824 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0000842 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0000956 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0001508 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0001510 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0002173 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0002750 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0008213 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0008245 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0002317 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0002495 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003392 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003393 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003426 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003427 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003435 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003484 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003693 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0007178 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0009053 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0001347 ORPHA:139536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0001761 ORPHA:139536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0001765 ORPHA:139536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0008081 ORPHA:139536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0040131 ORPHA:139536 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0001252 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0001639 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0001942 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0002151 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0003128 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0012103 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0000961 ORPHA:91130 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0001508 ORPHA:91130 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0003198 ORPHA:91130 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0009805 ORPHA:91130 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0002098 ORPHA:91130 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91132 Ichthyosis-hypotrichosis syndrome HP:0008070 ORPHA:91132 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91132 Ichthyosis-hypotrichosis syndrome HP:0008064 ORPHA:91132 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0001644 ORPHA:91131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0003642 ORPHA:91131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0012379 ORPHA:91131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0031319 ORPHA:91131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0001250 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0001508 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0001635 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0002910 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0008064 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0011342 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0031329 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0000253 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0000486 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0000505 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0000729 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0000817 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0001249 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0001270 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0001344 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0002069 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0002521 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0003323 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0004322 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0006829 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0007359 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0008947 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0010841 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0010845 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0011675 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0012469 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0025335 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91131 DK1-CDG HP:0031936 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000003 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000028 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000148 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000160 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000202 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000238 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000347 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000482 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000518 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000568 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000612 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000648 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000772 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000921 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0001274 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0001561 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0001600 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0002023 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0002101 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0002777 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0003057 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0006703 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0006709 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0008551 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0009103 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0009924 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0100569 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0100842 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0000028 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0000233 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0000268 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0000337 ORPHA:3303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0000520 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0001156 ORPHA:3303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0001511 ORPHA:3303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0001636 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0004209 ORPHA:3303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0004467 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0005105 ORPHA:3303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3303 Tetralogy of Fallot HP:0009891 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0000973 ORPHA:91135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0001582 ORPHA:91135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0001928 ORPHA:91135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0200034 ORPHA:91135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0001102 ORPHA:91135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0001892 ORPHA:91135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0002621 ORPHA:91135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0004944 ORPHA:91135 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0002073 ORPHA:352403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000750 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001256 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001260 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001263 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001272 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001310 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001347 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001350 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0002075 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0002078 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0007240 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000486 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000639 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000641 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000651 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000666 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001257 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0002080 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0008003 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000411 ORPHA:3304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001525 ORPHA:3304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0002187 ORPHA:3304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000028 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000218 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000252 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000347 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000400 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000494 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000954 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001631 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001636 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001642 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001719 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0004691 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0011335 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0011344 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000219 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000316 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000348 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000403 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000431 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000486 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000961 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001276 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001643 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0002179 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0002623 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0005278 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0005301 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0007687 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0100759 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0100760 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000280 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000316 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000319 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000322 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000358 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000445 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000527 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000563 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000574 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000582 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000664 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000750 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0001249 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0001373 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0001376 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0001513 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0001762 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0001773 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0001840 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0001999 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0002487 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0002857 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0003077 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0003763 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0004209 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0004322 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0006316 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0009907 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0011098 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0011822 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0200055 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000175 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000252 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000365 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0000470 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0001290 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0002650 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0006951 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289522 Microtriplication 11q24.1 HP:0001250 ORPHA:289522 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0000062 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0000252 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0000316 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0000612 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0000648 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0001155 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0005916 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0001276 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0001360 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0001671 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0002023 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0002084 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0002323 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0003312 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0004322 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0007370 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0008056 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0008207 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0008678 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0009601 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0100543 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1590 Distal monosomy 13q HP:0100589 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0001629 ORPHA:99094 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0001659 ORPHA:99094 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0025578 ORPHA:99094 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0031567 ORPHA:99094 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0001635 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0001962 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0002875 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0006704 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0011645 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0011681 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0012378 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0012663 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0031668 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0001712 ORPHA:99094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0004970 ORPHA:99094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0011682 ORPHA:99094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0100749 ORPHA:99094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0001643 ORPHA:99094 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0001647 ORPHA:99094 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0001655 ORPHA:99094 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0001705 ORPHA:99094 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99094 Laubry-Pezzi syndrome HP:0004890 ORPHA:99094 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0001629 ORPHA:99095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0012382 ORPHA:99095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0001635 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0001667 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0001708 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0001785 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0001945 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0001962 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0002094 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0005168 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0006689 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0011682 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0012378 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0012398 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0030718 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0030830 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0031443 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0031664 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0031667 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0001324 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0001642 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0002092 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0002563 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0002617 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0005180 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0010741 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0030848 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99095 Congenital Gerbode defect HP:0100749 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000322 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000400 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000411 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000668 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000750 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0001156 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0001249 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0001263 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0004322 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0009738 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000175 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000248 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000252 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000286 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000347 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000431 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000465 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000470 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000508 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000670 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000692 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000767 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000822 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0001252 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0002162 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0002714 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0002751 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0006610 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0100625 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000568 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000708 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0000821 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0001004 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0001360 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0001596 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0030680 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0002960 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1598 Monosomy 18p HP:0007325 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0000160 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0000252 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0000288 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0000316 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0000368 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0000582 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0000648 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0000995 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0005916 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0001172 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0001622 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0001626 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0001643 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0001671 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0002093 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0002240 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0002983 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0003272 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0003312 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0004097 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0004322 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0005487 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0007477 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0007598 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0008551 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0009601 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0010293 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0010306 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0100555 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0100560 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1597 Distal monosomy 17q HP:0200055 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001511 ORPHA:1596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001518 ORPHA:1596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000028 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000047 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000054 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000164 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000175 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000219 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000252 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000280 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000316 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000322 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000325 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000347 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000365 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000369 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000455 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000486 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000581 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000582 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000729 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000750 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000776 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001250 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001263 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001508 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001510 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001647 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001680 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001718 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001762 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001792 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0002089 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0002761 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0002827 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0002857 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0004322 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001671 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0005469 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0005709 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0007018 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0008897 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0009381 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0009882 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0010297 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0012303 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0030353 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0030918 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0040019 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0200055 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000003 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000476 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0000954 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001195 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0001643 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0004383 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0004471 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0011560 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0011651 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1596 Distal monosomy 15q HP:0100542 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:160148 Cap polyposis HP:0200063 ORPHA:160148 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:160148 Cap polyposis HP:0002019 ORPHA:160148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:160148 Cap polyposis HP:0002027 ORPHA:160148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:160148 Cap polyposis HP:0002573 ORPHA:160148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:160148 Cap polyposis HP:0002582 ORPHA:160148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:160148 Cap polyposis HP:0001824 ORPHA:160148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160148 Cap polyposis HP:0002014 ORPHA:160148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160148 Cap polyposis HP:0003270 ORPHA:160148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79492 Pili gemini HP:0003329 ORPHA:79492 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79492 Pili gemini HP:0003328 ORPHA:79492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0031024 ORPHA:79493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0000271 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0000464 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0001965 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0012842 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0025367 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0200036 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0001892 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0002671 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0007606 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0010732 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0025512 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0200042 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0000365 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0000372 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0000505 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0010287 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0010288 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0010628 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79493 Brooke-Spiegler syndrome HP:0100684 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002172 ORPHA:37612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002370 ORPHA:37612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002411 ORPHA:37612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0000622 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0000651 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0000975 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0001260 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002018 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002312 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002315 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002321 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0003394 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0003552 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0000750 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0001188 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0001266 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0001270 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0001272 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0001276 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0001328 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002098 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002486 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002650 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0002751 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0005461 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0008981 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37612 Episodic ataxia type 1 HP:0030051 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0001249 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0001288 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0001639 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0001644 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0006543 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0010547 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001817 ORPHA:79499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0008625 ORPHA:79499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0000164 ORPHA:79499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0000677 ORPHA:79499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001199 ORPHA:79499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001802 ORPHA:79499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0008386 ORPHA:79499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0000268 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0000348 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001057 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001249 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001250 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001763 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001800 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001999 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0002465 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0009778 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0012554 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0200104 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0200141 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000028 ORPHA:1580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000147 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000175 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000252 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000316 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000347 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000364 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000365 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000368 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000400 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000431 ORPHA:1580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000444 ORPHA:1580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000465 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000470 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000486 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0000494 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0001231 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0001249 ORPHA:1580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0001387 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0001511 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0001800 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0002023 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0030680 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0004209 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0004322 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0004397 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0007598 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0008736 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0009811 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0011344 ORPHA:1580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1580 Distal monosomy 10p HP:0100335 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000750 ORPHA:544254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001249 ORPHA:544254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001263 ORPHA:544254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002197 ORPHA:544254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0010832 ORPHA:544254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000708 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000729 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001251 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001252 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001288 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001999 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002342 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002360 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002370 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002376 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002465 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0010864 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0020208 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0100738 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000047 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000154 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000160 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000218 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000233 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000252 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000276 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000325 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000400 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000490 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000735 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000992 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001337 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001344 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0008770 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0008872 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0011150 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0012703 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0030810 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0040080 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0100023 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0100259 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000243 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000252 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000286 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000316 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000347 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000369 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000391 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000411 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000426 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000431 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000465 ORPHA:1587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000470 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000508 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000518 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000568 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0000612 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0001156 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0001249 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0001252 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0001360 ORPHA:1587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0001511 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0002079 ORPHA:1587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0030680 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0004209 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0004322 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0006101 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0007477 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0009601 ORPHA:1587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0009919 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1587 Monosomy 13q14 HP:0011024 ORPHA:1587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0002960 ORPHA:79480 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0011355 ORPHA:79480 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0025300 ORPHA:79480 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0025474 ORPHA:79480 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0100792 ORPHA:79480 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0003493 ORPHA:79480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0008066 ORPHA:79480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0031540 ORPHA:79480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0000155 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0001053 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0002725 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0007510 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0030208 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79480 Pemphigus erythematosus HP:0200041 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0002960 ORPHA:79481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0100792 ORPHA:79481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0000989 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0001965 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0007473 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0008066 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0010783 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0025474 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0040189 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0200041 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0000155 ORPHA:79481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0001019 ORPHA:79481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0011830 ORPHA:79481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0200037 ORPHA:79481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0003765 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0004377 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0008069 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0025527 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0025528 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79481 Pemphigus foliaceus HP:0200039 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0000286 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0000431 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0000486 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0000508 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0000582 ORPHA:1581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0000664 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0001156 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0001251 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0001252 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0001288 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0004209 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0004422 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0007598 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0010557 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1581 Non-distal monosomy 10q HP:0100543 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0000572 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0000613 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0006758 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0007663 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0007830 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0007984 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0007987 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0030057 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0030357 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0030786 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0100013 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0000543 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0000603 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0001105 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0001133 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0004377 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0007641 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0007722 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0007793 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0010784 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0010788 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0012189 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0030528 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0030627 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0100275 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0100522 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0000648 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0002367 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0002894 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0003003 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0006725 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0011531 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0012056 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71505 Cancer-associated retinopathy HP:0012125 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000028 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000033 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000037 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008665 ORPHA:289548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000127 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000144 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000151 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000142 ORPHA:289548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000771 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000823 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000835 ORPHA:289548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000848 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008207 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0002750 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000939 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001197 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001274 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001508 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001622 ORPHA:289548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001941 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001944 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001998 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0002013 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0002153 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0002615 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0002902 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0004319 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0003107 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0003154 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0012605 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0004349 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0007440 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0007574 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008163 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008187 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008232 ORPHA:289548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008730 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008734 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0010512 ORPHA:289548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0010789 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0011106 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0011749 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0011968 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0011969 ORPHA:289548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0012244 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0012245 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0012598 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0012854 ORPHA:289548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0030349 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0030369 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0100779 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0000639 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0001256 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0001258 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0002061 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0002064 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0002166 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0002355 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0002509 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0007002 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0002061 ORPHA:488594 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0002395 ORPHA:488594 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0003487 ORPHA:488594 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0001251 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0001260 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0001761 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0002066 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0003202 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0007340 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0007350 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0009830 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0000009 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0000496 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0002070 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0002650 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0008081 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0011448 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0001257 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0001276 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0001347 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0002194 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0003202 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0004322 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0004325 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0012407 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0002518 ORPHA:401805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0000338 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0000473 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001260 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001270 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001300 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002015 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002066 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002067 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002172 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002300 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002307 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002451 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0012179 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0000712 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0000716 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0000739 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001250 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001272 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002322 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001290 ORPHA:71517 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0000473 ORPHA:71518 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0002457 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0000737 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0000741 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0000980 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0001251 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0002013 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0002076 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0002321 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0002329 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71519 Psychogenic movement disorders HP:0001288 ORPHA:71519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71519 Psychogenic movement disorders HP:0002167 ORPHA:71519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71519 Psychogenic movement disorders HP:0100022 ORPHA:71519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000505 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000512 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000545 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000568 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000639 ORPHA:1574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000648 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0007703 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0000608 ORPHA:1573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0000618 ORPHA:1573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0000639 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0000962 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0000995 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0001480 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0002209 ORPHA:1573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0002213 ORPHA:1573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0002299 ORPHA:1573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0002652 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0002813 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0003777 ORPHA:1573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0004322 ORPHA:1573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0008002 ORPHA:1573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0100326 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0000248 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0000388 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0000389 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0000979 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0001392 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0001531 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0001744 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0001878 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0001888 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0001973 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002023 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002090 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002091 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002097 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002110 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002205 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002633 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002665 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002716 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002721 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002829 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002837 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0002910 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0004313 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0006783 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1572 Common variable immunodeficiency HP:0100723 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000076 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000238 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000286 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000486 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000518 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000529 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000541 ORPHA:1571 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000545 ORPHA:1571 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000572 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000608 ORPHA:1571 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0000639 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0007773 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0001083 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0001250 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0001362 ORPHA:1571 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0001595 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0001643 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0001651 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0002021 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0002085 ORPHA:1571 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0004327 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0005280 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0005692 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0011800 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0030037 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1571 Knobloch syndrome HP:0100764 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1570 Symbrachydactyly of hands and feet HP:0002650 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1570 Symbrachydactyly of hands and feet HP:0040071 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1570 Symbrachydactyly of hands and feet HP:0003063 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1570 Symbrachydactyly of hands and feet HP:0003422 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1570 Symbrachydactyly of hands and feet HP:0006501 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1570 Symbrachydactyly of hands and feet HP:0009601 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1570 Symbrachydactyly of hands and feet HP:0009800 ORPHA:1570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1570 Symbrachydactyly of hands and feet HP:0100745 ORPHA:1570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0000590 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0001332 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0002071 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0002073 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0002493 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0007256 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0009830 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0000520 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0000623 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0000640 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0000651 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0000750 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0001257 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0001260 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0001272 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0001347 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0002198 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0002312 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0002503 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0003202 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0003487 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0007089 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0007240 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0011960 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0040140 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0000011 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0001605 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0001751 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0002015 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0002354 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0002360 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0003394 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0004370 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276238 Machado-Joseph disease type 1 HP:0008944 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0005353 ORPHA:33276 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0001034 ORPHA:33276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0002814 ORPHA:33276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0008069 ORPHA:33276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0012733 ORPHA:33276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0000479 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0001028 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0001298 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0001743 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0002721 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0005523 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0008940 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0011024 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0200034 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0200036 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0000988 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0001004 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0001392 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0001824 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0001945 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0002014 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0002088 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0005293 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0011793 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0012378 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33276 Kaposi sarcoma HP:0200035 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0002027 ORPHA:79473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0010472 ORPHA:79473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0010473 ORPHA:79473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0012217 ORPHA:79473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0012379 ORPHA:79473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0000707 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0000708 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0000739 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0000992 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001324 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0002019 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0002273 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0003163 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0003418 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0007178 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0008066 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0008997 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0100749 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0200037 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0200041 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0000011 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0000822 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0000953 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0000998 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001010 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001056 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001072 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001250 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001265 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001347 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001649 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0002018 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0002203 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0002595 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0002902 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0002910 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0003474 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0011355 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0012332 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0031218 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0100699 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0000738 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001259 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001392 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001402 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0001903 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0011999 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79473 Porphyria variegata HP:0012622 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000035 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000135 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000144 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000233 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000275 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000347 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000444 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000519 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000546 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000765 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000819 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000822 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000823 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000831 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000905 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000842 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000869 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000934 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000939 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000962 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0000963 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001015 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0009771 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001376 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001385 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001397 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001508 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0004322 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001595 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001596 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001601 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001608 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001634 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001635 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001650 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001677 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001763 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001808 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0001838 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0002155 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0002211 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0002216 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0002231 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0002669 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0002858 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0003074 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0003076 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0003202 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0008981 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0003738 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0003777 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0004054 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0004279 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0004325 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0004349 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0004361 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0004380 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0004414 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0004950 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0005109 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0005177 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0005328 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0005978 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0007509 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0007495 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0007618 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0007703 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0008065 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0008069 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0008209 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0008283 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0008419 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0009064 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0009726 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0010721 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0011001 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0011362 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0040019 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100013 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100031 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100526 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100578 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100585 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100615 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100649 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100659 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100679 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100833 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0100840 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79474 Atypical Werner syndrome HP:0200042 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0000488 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0000639 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0000651 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0001249 ORPHA:79476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0001250 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0001251 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0001263 ORPHA:79476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0001276 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0001290 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0002216 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0002514 ORPHA:79476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0003077 ORPHA:79476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0007443 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0007730 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0011364 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79476 Griscelli syndrome type 1 HP:0100022 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0000952 ORPHA:79477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0000967 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0001250 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0001276 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0001744 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0001875 ORPHA:79477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0001876 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0001945 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0002017 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0002113 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0002216 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0002240 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0002716 ORPHA:79477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0002721 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0003077 ORPHA:79477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0005599 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0007443 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0007730 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79477 Griscelli syndrome type 2 HP:0012156 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79478 Griscelli syndrome type 3 HP:0005599 ORPHA:79478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79478 Griscelli syndrome type 3 HP:0007443 ORPHA:79478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79478 Griscelli syndrome type 3 HP:0007730 ORPHA:79478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0004923 ORPHA:1578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0040210 ORPHA:1578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0010553 ORPHA:1578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0040206 ORPHA:1578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0000737 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0001276 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0001337 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0002917 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0008936 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0012758 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0001300 ORPHA:1578 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0004904 ORPHA:1578 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0100021 ORPHA:1578 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0007002 ORPHA:209004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0007267 ORPHA:209004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0007340 ORPHA:209004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0003390 ORPHA:209004 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0005508 ORPHA:209004 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0007240 ORPHA:209004 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0012514 ORPHA:209004 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0031006 ORPHA:209004 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0002665 ORPHA:209004 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0006775 ORPHA:209004 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0025346 ORPHA:209004 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0100778 ORPHA:209004 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0000252 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0000718 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0000823 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0001257 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0001260 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0001288 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0006889 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0001284 ORPHA:401810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0002500 ORPHA:401810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0001249 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0001284 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0001301 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0001321 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0001762 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002061 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002064 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002079 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002166 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002355 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002509 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0007020 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0007210 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0030048 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000625 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000653 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0001156 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0001274 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0002006 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0005258 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0005466 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0009119 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0011803 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0040019 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0045075 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0100490 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0001249 ORPHA:306542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0001636 ORPHA:306542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0004423 ORPHA:306542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0006931 ORPHA:306542 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000175 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000286 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000316 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000327 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000349 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000368 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000384 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000405 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000430 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000431 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000508 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000518 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000568 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250923 Isolated aniridia HP:0000501 ORPHA:250923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250923 Isolated aniridia HP:0000518 ORPHA:250923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250923 Isolated aniridia HP:0000526 ORPHA:250923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250923 Isolated aniridia HP:0000572 ORPHA:250923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250923 Isolated aniridia HP:0000639 ORPHA:250923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:250923 Isolated aniridia HP:0000659 ORPHA:250923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:250923 Isolated aniridia HP:0008059 ORPHA:250923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1566 Dandy-Walker malformation-postaxial polydactyly syndrome HP:0001162 ORPHA:1566 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1566 Dandy-Walker malformation-postaxial polydactyly syndrome HP:0001305 ORPHA:1566 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001257 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001258 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001288 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001347 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0012332 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0003409 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0007328 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0009830 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0200042 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0002143 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0002169 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0003390 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0003431 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0003487 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0003693 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0007020 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0006121 ORPHA:139578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001886 ORPHA:139578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0000248 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0000252 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0000280 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0000750 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0001357 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0001558 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0001662 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0002342 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0002506 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0005469 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0007000 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0007281 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0010864 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0011220 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000083 ORPHA:1563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000112 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000431 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000506 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000518 ORPHA:1563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000821 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000829 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000966 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0001004 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0001072 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0001156 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0001634 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0001798 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0002230 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0002901 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0004322 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0009882 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1562 Dacryocystitis-osteopoikilosis syndrome HP:0000620 ORPHA:1562 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1562 Dacryocystitis-osteopoikilosis syndrome HP:0000632 ORPHA:1562 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1562 Dacryocystitis-osteopoikilosis syndrome HP:0010739 ORPHA:1562 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1562 Dacryocystitis-osteopoikilosis syndrome HP:0011001 ORPHA:1562 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000707 ORPHA:1560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0001250 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0002514 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0002922 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0003474 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0004302 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0010576 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0010651 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0010702 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0011805 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0012443 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0012703 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0100702 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0200149 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000651 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000708 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000712 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000738 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000925 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000929 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000933 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0001637 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0002133 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0002197 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0002354 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0002493 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0002516 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0006824 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0007359 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0009745 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0012372 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0025258 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0100249 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0100561 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000541 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000726 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0000741 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0001094 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0001251 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0001260 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0001268 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0001289 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0001297 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0002383 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0004420 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0007185 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0012424 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1560 Cysticercosis HP:0025163 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000968 ORPHA:2890 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000175 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000377 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000561 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000958 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000964 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000982 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0001596 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0002223 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0002289 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0002299 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0002552 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0007439 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0008394 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0008404 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0010562 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0012725 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0030953 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0410030 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0002231 ORPHA:2890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0001251 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0001252 ORPHA:2891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0001263 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0001288 ORPHA:2891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0001510 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0003777 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0005692 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0010719 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0100840 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0200102 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0003487 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0007089 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0007240 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0007256 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0011960 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0040140 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0000011 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0001605 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0001751 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002015 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002354 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002360 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0003394 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0003477 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0004370 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0000590 ORPHA:276244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002071 ORPHA:276244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002073 ORPHA:276244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0008944 ORPHA:276244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0000520 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0000623 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0000640 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0000651 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0000750 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0001257 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0001260 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0001272 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0001332 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0001347 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002198 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002312 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002366 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002398 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002460 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002493 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0002503 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0003202 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276244 Machado-Joseph disease type 3 HP:0003457 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0000023 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0000028 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0000256 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0000486 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0002119 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0002120 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0007360 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000154 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000174 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000252 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000280 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000293 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000322 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000341 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000391 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000426 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000463 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000470 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000483 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000490 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000545 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000582 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000692 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000954 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001182 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001249 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001251 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001252 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001263 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001328 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001508 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001510 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001763 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002019 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002020 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002036 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002300 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002342 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002381 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002360 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002381 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0006352 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0008081 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0010529 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0010743 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0011039 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0011300 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0011833 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0011968 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0012471 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0040019 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0100633 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0200055 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000451 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000486 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001063 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001250 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001344 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001786 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002066 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002472 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002793 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002883 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0007370 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0010535 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000028 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000054 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000718 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0000729 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0001053 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002558 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002650 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0008897 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0040082 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0100716 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0002251 ORPHA:2896 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2896 Pitt-Hopkins syndrome HP:0012189 ORPHA:2896 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0000163 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0000964 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0000982 ORPHA:2897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0000989 ORPHA:2897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0001019 ORPHA:2897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0001072 ORPHA:2897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0001597 ORPHA:2897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0002664 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0007400 ORPHA:2897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0008064 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0008392 ORPHA:2897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0100725 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0200034 ORPHA:2897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2897 Pityriasis rubra pilaris HP:0200039 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0000590 ORPHA:276241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0002071 ORPHA:276241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0002073 ORPHA:276241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0000520 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0000623 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0000640 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0000651 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0000750 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0001257 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0001260 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0001272 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0001332 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0001347 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0002198 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0002312 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0002493 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0002503 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0003202 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0003487 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0007089 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0007240 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0007256 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0009830 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0011960 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0040140 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0000011 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0001605 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0001751 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0002015 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0002354 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0002360 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0003394 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0004370 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276241 Machado-Joseph disease type 2 HP:0008944 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0001256 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0001263 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0001274 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0001347 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0002061 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0002064 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0002120 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0002355 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0003487 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0003700 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0006817 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0007020 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0012447 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0100022 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0200085 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000414 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000447 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000750 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001252 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001263 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001999 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0100025 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000028 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000047 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000119 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000232 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000276 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000286 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000365 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000400 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000411 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000486 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000505 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000508 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000540 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000582 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000708 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000968 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001250 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001256 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001319 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001373 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001382 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001388 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001518 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001627 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001761 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001763 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001848 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002011 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002119 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002342 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002353 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0005656 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0007359 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0008897 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011182 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011185 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011968 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0012433 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0012443 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0012745 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000010 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000075 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000076 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000126 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000194 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000238 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000256 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000403 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000426 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000430 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000431 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000519 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000581 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000648 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000729 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000739 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000748 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000767 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000768 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000826 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000957 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000960 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000962 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000964 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001010 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001045 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001054 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001166 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001212 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001274 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001363 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001533 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001596 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001601 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001629 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001631 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001638 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001642 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001647 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002079 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002197 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002205 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002286 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002414 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002650 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002652 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002779 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002808 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0003302 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0003307 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0004942 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0005216 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0006482 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0006813 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0007018 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0007099 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0008064 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0008207 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0008445 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0009130 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0009928 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0010864 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0010945 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011098 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011470 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011822 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0012683 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0012699 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0025268 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0030746 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0100775 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000252 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000821 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000824 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001028 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002861 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0010788 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000729 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001270 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001344 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002353 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0008947 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011344 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000486 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000565 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000639 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000733 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000817 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002013 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002020 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002360 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002487 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0008762 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0025152 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000219 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000244 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000286 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000319 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000349 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000540 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000742 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001251 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001266 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001332 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001388 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001601 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001631 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001776 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002072 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002465 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002650 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002871 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002883 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002938 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0003196 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0004691 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0005274 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0005876 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0007874 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0008081 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0008138 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0010535 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0010850 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011194 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011196 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011228 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011445 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011968 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0012169 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0012448 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0025247 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0040296 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0100248 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000028 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000048 ORPHA:1555 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000160 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000175 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000189 ORPHA:1555 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000238 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000262 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000268 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000271 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000272 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000316 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000364 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000391 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000400 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000453 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000463 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000478 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000494 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000504 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000508 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000520 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000648 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000822 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000929 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000956 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000982 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000995 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001363 ORPHA:1555 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001482 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001537 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001545 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001597 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001732 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0002098 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0002676 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0003246 ORPHA:1555 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0004450 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0005280 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0007469 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0009804 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0009906 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0010669 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0011800 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0100761 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0000316 ORPHA:1553 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0000324 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0000568 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0000588 ORPHA:1553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0000612 ORPHA:1553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0001053 ORPHA:1553 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0001177 ORPHA:1553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0001249 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0001274 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0001363 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0001770 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0001829 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0002119 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0002230 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0002566 ORPHA:1553 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0006101 ORPHA:1553 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0008065 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0009602 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1553 Curry-Jones syndrome HP:0011304 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2889 Pili torti HP:0000164 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2889 Pili torti HP:0000365 ORPHA:2889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2889 Pili torti HP:0000534 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2889 Pili torti HP:0000682 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2889 Pili torti HP:0001596 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2889 Pili torti HP:0001597 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2889 Pili torti HP:0002299 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2889 Pili torti HP:0003777 ORPHA:2889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2889 Pili torti HP:0010719 ORPHA:2889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0000708 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001257 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001260 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001268 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001324 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002063 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002172 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002378 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0003487 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0000020 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0000648 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001288 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001300 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001332 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002015 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002067 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002313 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002359 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002453 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002607 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0006801 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0007002 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0045007 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0000570 ORPHA:289560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002362 ORPHA:289560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002093 ORPHA:289560 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0001873 ORPHA:244242 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0002910 ORPHA:244242 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0001878 ORPHA:244242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0000093 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0002315 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0004324 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0007430 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0008151 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0011900 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0012378 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0001058 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0001937 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0002013 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0002018 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0002027 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0002202 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0002615 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0003418 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0003641 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0005521 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0011419 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0025435 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0025547 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0030834 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0100598 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0410019 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0001342 ORPHA:244242 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0001919 ORPHA:244242 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:244242 HELLP syndrome HP:0011029 ORPHA:244242 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1552 Currarino syndrome HP:0008517 ORPHA:1552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1552 Currarino syndrome HP:0030736 ORPHA:1552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1552 Currarino syndrome HP:0000037 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1552 Currarino syndrome HP:0000047 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1552 Currarino syndrome HP:0000048 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1552 Currarino syndrome HP:0000076 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1552 Currarino syndrome HP:0002242 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1552 Currarino syndrome HP:0008736 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1552 Currarino syndrome HP:0100026 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1552 Currarino syndrome HP:0100559 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0000431 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0001061 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0001250 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0001252 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0001903 ORPHA:1551 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0002002 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0002234 ORPHA:1551 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0004322 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0005019 ORPHA:1551 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0008060 ORPHA:1551 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0010978 ORPHA:1551 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1551 Familial benign copper deficiency HP:0011967 ORPHA:1551 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000238 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000252 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000365 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000488 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000639 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000648 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000958 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000988 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000992 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001025 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001029 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001249 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001251 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001257 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0002634 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0004322 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0004326 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0004334 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0004337 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0007495 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0007587 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000651 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001260 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001263 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001289 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0002671 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0002861 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0006739 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0007108 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0002211 ORPHA:2884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0005599 ORPHA:2884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0007544 ORPHA:2884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0001053 ORPHA:2884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0002226 ORPHA:2884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0002227 ORPHA:2884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0012733 ORPHA:2884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0000252 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0000343 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0000365 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0000431 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0000664 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0001100 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0001249 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0001251 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0001252 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0002251 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0002683 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2884 Piebaldism HP:0008069 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0000407 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0000499 ORPHA:2885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0000534 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0000992 ORPHA:2885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0001029 ORPHA:2885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0001053 ORPHA:2885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0001100 ORPHA:2885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0001249 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0001251 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0002251 ORPHA:2885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0005599 ORPHA:2885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0007400 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0008069 ORPHA:2885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0012733 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000003 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000202 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000347 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000541 ORPHA:1556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000555 ORPHA:1556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000821 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000951 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000965 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000979 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001250 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001511 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001541 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001643 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001770 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001933 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0002650 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0002814 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0002817 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0004349 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0005306 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0006101 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0006385 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0007565 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0008065 ORPHA:1556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100026 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100543 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100545 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100555 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100585 ORPHA:1556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100627 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100814 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0200041 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000201 ORPHA:2886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001631 ORPHA:2886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001762 ORPHA:2886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0005301 ORPHA:2886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000162 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000175 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000316 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000340 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000347 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000431 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000961 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001249 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001263 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001290 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001508 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001511 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001838 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0009891 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000028 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000085 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000126 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000239 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000365 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000368 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000385 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000395 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000463 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000545 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000574 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000954 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001161 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001250 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001273 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001321 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001978 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0002104 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0002136 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0002650 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0004492 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0006101 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0006434 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0009738 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0012745 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0030084 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000199 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000648 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000767 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0000879 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0001636 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0002089 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0002246 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0009085 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0010720 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0011445 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2886 TARP syndrome HP:0100259 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0000365 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0000518 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0001256 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0001263 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0001274 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0002061 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0002120 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0002378 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0002464 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0006817 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0007020 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0012447 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0100022 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0001256 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0001263 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0002061 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0002378 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0006530 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0007020 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0009830 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0012447 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0100022 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0000100 ORPHA:401835 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0000358 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0000369 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0000772 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0001059 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0001511 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0003312 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0003316 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0009465 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0000286 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0000396 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0000405 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0000494 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0001199 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0001387 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0001629 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0001680 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0002475 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0002974 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0004935 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0005280 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0009778 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0009906 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0010059 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0011304 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0012304 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2876 PHAVER syndrome HP:0100490 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0000343 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0000402 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0000405 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0002002 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0003019 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0003022 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0003031 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0004059 ORPHA:2878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0005105 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0005288 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0005792 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0006420 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0006482 ORPHA:2878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0008551 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0009601 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0009813 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0009896 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0009906 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0010038 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0011675 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0100257 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0000028 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0000151 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0000175 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0000347 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0000411 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0000470 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0001180 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0001362 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0001511 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0001789 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0001849 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0001883 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0002023 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0002164 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0002435 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0002575 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0002705 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0002983 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0002984 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0002986 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0002990 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0002992 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0003041 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0003196 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0003498 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0003982 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0006487 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0008517 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0008736 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0009103 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2879 Phocomelia, Schinzel type HP:0100257 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0000174 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0000262 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0000303 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0000316 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0000327 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0000444 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0000486 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0000508 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0000520 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0001770 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0001783 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0001839 ORPHA:1540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0001841 ORPHA:1540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0002007 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0002991 ORPHA:1540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0004691 ORPHA:1540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0009773 ORPHA:1540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0009891 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0010059 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0010743 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1540 Jackson-Weiss syndrome HP:0011800 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0000286 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0000581 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0001249 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0001387 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0001620 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0004322 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0006297 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0000377 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0001650 ORPHA:2871 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000035 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000047 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000164 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000268 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000486 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000768 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0001166 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0001249 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0001252 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0001387 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0001608 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0002205 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0002650 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0002750 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0002808 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0006703 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0007598 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0000863 ORPHA:95513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0000871 ORPHA:95513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0011751 ORPHA:95513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0000141 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0000622 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0000802 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0000870 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0000980 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0001278 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0001895 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0001959 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0002018 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0002315 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0003158 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0007987 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0008163 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0008213 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0008214 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0040171 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0008240 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0008245 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0011735 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0011748 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0012504 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0012696 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0030018 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0040306 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0000407 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0000651 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0000872 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0002902 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0003493 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0004396 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0007041 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95513 Panhypophysitis HP:0008202 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000368 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000431 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000473 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000494 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001238 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001249 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001537 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000347 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000369 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001263 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001510 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001511 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0004442 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0012478 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000028 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000047 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000054 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000193 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000268 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000289 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000316 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001627 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0002705 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0002778 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0002876 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0004322 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0006191 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0008070 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0008112 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0009540 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0010487 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0010621 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0010721 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0011220 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0000048 ORPHA:1547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0000506 ORPHA:1547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0001480 ORPHA:1547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0001800 ORPHA:1547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0005872 ORPHA:1547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0007477 ORPHA:1547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0009882 ORPHA:1547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0001945 ORPHA:1546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002721 ORPHA:1546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0012735 ORPHA:1546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0025392 ORPHA:1546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0000238 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0000478 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0000504 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0000708 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0001268 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0001287 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0001394 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002013 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002090 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002094 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002098 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002120 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002202 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002315 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002516 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002664 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002725 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002960 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0003690 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0031179 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0100721 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0100749 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0000024 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0000356 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0000479 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0000587 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0000602 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0000618 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0001250 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0001291 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002181 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002354 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002586 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002754 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0002797 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0005526 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0011531 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1546 Cryptococcosis HP:0100806 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0010817 ORPHA:2874 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0025510 ORPHA:2874 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002650 ORPHA:2874 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000995 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002671 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002859 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0004912 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0012758 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0100556 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000028 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000501 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000589 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000826 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000975 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001004 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001028 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001250 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001269 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001347 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001528 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002232 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002414 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002666 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002667 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0011675 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0012056 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0012583 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0030409 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0030880 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0100702 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0100814 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2874 Phakomatosis pigmentokeratotica HP:0100963 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0000160 ORPHA:1545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0000218 ORPHA:1545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0000293 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0000343 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0000347 ORPHA:1545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0000445 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0000463 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0000966 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0000975 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0001250 ORPHA:1545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0001276 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0001371 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0001376 ORPHA:1545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0001522 ORPHA:1545 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0001645 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0002047 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0002093 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0002650 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0002808 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0011968 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0100490 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0100543 ORPHA:1545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1545 Crisponi syndrome HP:0100729 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0000324 ORPHA:2875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0000501 ORPHA:2875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0000592 ORPHA:2875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0001052 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0001053 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0001250 ORPHA:2875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0002120 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0002353 ORPHA:2875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0002514 ORPHA:2875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0003401 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0004349 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0007440 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0100026 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2875 Phakomatosis pigmentovascularis HP:0100543 ORPHA:2875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0000871 ORPHA:95512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0000141 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0000622 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0000802 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0000870 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0000980 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0001278 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0001895 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0002018 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0002315 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0003158 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0007987 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0008163 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0008213 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0008214 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0040171 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0008240 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0008245 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0011735 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0011748 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0012504 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0012696 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0030018 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0040306 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0000407 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0000651 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0000872 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0002902 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0003493 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0004396 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0007041 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95512 Adenohypophysitis HP:0008202 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0001256 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0001263 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0001347 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0002061 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0002064 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0002079 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0002378 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0003487 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0007020 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0009830 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0012447 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0100022 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0003457 ORPHA:401840 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0002063 ORPHA:401849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0002064 ORPHA:401849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0001761 ORPHA:401849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0002839 ORPHA:401849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0002174 ORPHA:401849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0002354 ORPHA:401849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0006938 ORPHA:401849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0011446 ORPHA:401849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0012531 ORPHA:401849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0002079 ORPHA:306511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0007020 ORPHA:306511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0000020 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0001249 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0001251 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0001336 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0001347 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0002061 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0002064 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0002839 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0003236 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0003319 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0007340 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0030890 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0100543 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0000488 ORPHA:306511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0001300 ORPHA:306511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0002136 ORPHA:306511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0009830 ORPHA:306511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0000465 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0000470 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0001249 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0001627 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0001999 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0004322 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0011354 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0000233 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0000238 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0000248 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0000262 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0000298 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0000316 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0000369 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0000463 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0000505 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0000506 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0001251 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0001317 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0001320 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0002293 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0002342 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0002363 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0004322 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0007328 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0007957 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0011800 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0100543 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1532 Gómez-López-Hernández syndrome HP:0100797 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0000407 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0000501 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0001363 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0002300 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0002664 ORPHA:2866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0004322 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0004397 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0010978 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2867 Short stature, Brussels type HP:0001510 ORPHA:2867 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2867 Short stature, Brussels type HP:0001999 ORPHA:2867 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2867 Short stature, Brussels type HP:0004322 ORPHA:2867 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2867 Short stature, Brussels type HP:0000085 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2867 Short stature, Brussels type HP:0000256 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2867 Short stature, Brussels type HP:0000308 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2867 Short stature, Brussels type HP:0000325 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2867 Short stature, Brussels type HP:0000774 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2867 Short stature, Brussels type HP:0002663 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2867 Short stature, Brussels type HP:0100593 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0000164 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0000218 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0000508 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0000678 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0001252 ORPHA:2868 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0001634 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0001642 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0001654 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0002750 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0003498 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0004209 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0005692 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0100729 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0200055 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0000069 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0000366 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0001003 ORPHA:2869 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0001903 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0002013 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0002027 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0002035 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0002086 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0002239 ORPHA:2869 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0002664 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0002672 ORPHA:2869 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0003002 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0005214 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0005244 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0005264 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0005562 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0005584 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0006725 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0008675 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0011024 ORPHA:2869 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0012126 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0012720 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0012733 ORPHA:2869 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0030079 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0100273 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0100526 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0100574 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0100582 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0100644 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0100669 ORPHA:2869 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0100743 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0100751 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2869 Peutz-Jeghers syndrome HP:0100833 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000238 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000268 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000316 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000347 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000486 ORPHA:1538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000648 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0001249 ORPHA:1538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0001305 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0001321 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0002007 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0005472 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000028 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000187 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000218 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000288 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000347 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000369 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000431 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000437 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000494 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000527 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000684 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000830 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0001156 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0001257 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0001643 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0001651 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0002023 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0002645 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0004322 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0007477 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0008678 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0009804 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0012854 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0100490 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0100543 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0000708 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001250 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001252 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001254 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001259 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001315 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001399 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001639 ORPHA:156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001645 ORPHA:156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001939 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001943 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001947 ORPHA:156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0002167 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0002240 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0002910 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0003202 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0004374 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0007185 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0008279 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0011675 ORPHA:156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0012378 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0001548 ORPHA:276280 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0004099 ORPHA:276280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0100659 ORPHA:276280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0000034 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0000105 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0001012 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0001051 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0001829 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0002624 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0002650 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0003764 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0008551 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0010714 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0012887 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0040009 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0100578 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0100585 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0100763 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0002667 ORPHA:276280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158 Systemic primary carnitine deficiency HP:0000467 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158 Systemic primary carnitine deficiency HP:0001289 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158 Systemic primary carnitine deficiency HP:0001324 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158 Systemic primary carnitine deficiency HP:0002013 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158 Systemic primary carnitine deficiency HP:0002240 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158 Systemic primary carnitine deficiency HP:0002312 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158 Systemic primary carnitine deficiency HP:0002910 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158 Systemic primary carnitine deficiency HP:0006846 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158 Systemic primary carnitine deficiency HP:0007334 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001324 ORPHA:157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003326 ORPHA:157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0012380 ORPHA:157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002913 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003077 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003198 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003236 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003546 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003738 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0008315 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0011936 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0040320 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0045045 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001250 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001970 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002240 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002315 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002574 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003201 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003449 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003710 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003774 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0008682 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0011964 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0000113 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0000238 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0000800 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001259 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001274 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001302 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001320 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001399 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001638 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001985 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002126 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002134 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002269 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002514 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002643 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0006559 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0011675 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0012443 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:154 Familial isolated dilated cardiomyopathy HP:0000407 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:154 Familial isolated dilated cardiomyopathy HP:0000982 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:154 Familial isolated dilated cardiomyopathy HP:0001644 ORPHA:154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:154 Familial isolated dilated cardiomyopathy HP:0001874 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:154 Familial isolated dilated cardiomyopathy HP:0003198 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:154 Familial isolated dilated cardiomyopathy HP:0003236 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:154 Familial isolated dilated cardiomyopathy HP:0003457 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:154 Familial isolated dilated cardiomyopathy HP:0100578 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139491 Hemochromatosis type 4 HP:0001373 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139491 Hemochromatosis type 4 HP:0001376 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139491 Hemochromatosis type 4 HP:0001386 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139491 Hemochromatosis type 4 HP:0001394 ORPHA:139491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139491 Hemochromatosis type 4 HP:0001397 ORPHA:139491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139491 Hemochromatosis type 4 HP:0002027 ORPHA:139491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139491 Hemochromatosis type 4 HP:0002612 ORPHA:139491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139491 Hemochromatosis type 4 HP:0002829 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139491 Hemochromatosis type 4 HP:0003281 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139491 Hemochromatosis type 4 HP:0007440 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002411 ORPHA:324442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002486 ORPHA:324442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003444 ORPHA:324442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009053 ORPHA:324442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0100288 ORPHA:324442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001288 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001315 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001760 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002359 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003236 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003438 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003546 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003710 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0007002 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0007178 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0007289 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0012899 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0030198 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001284 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001371 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001761 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001771 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002166 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002273 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002356 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002505 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003376 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003390 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003401 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003409 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003552 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003760 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0008944 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0008954 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0008991 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009005 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009027 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009049 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009077 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009130 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0000975 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001171 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001256 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001328 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002943 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0004686 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0100490 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0030429 ORPHA:289596 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0000282 ORPHA:289596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0000421 ORPHA:289596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0000520 ORPHA:289596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0000651 ORPHA:289596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0001742 ORPHA:289596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0002516 ORPHA:289596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0012198 ORPHA:289596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168816 Peritoneal cystic mesothelioma HP:0000132 ORPHA:168816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168816 Peritoneal cystic mesothelioma HP:0001824 ORPHA:168816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168816 Peritoneal cystic mesothelioma HP:0002019 ORPHA:168816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168816 Peritoneal cystic mesothelioma HP:0002027 ORPHA:168816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168816 Peritoneal cystic mesothelioma HP:0002586 ORPHA:168816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168816 Peritoneal cystic mesothelioma HP:0002664 ORPHA:168816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168816 Peritoneal cystic mesothelioma HP:0003270 ORPHA:168816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168816 Peritoneal cystic mesothelioma HP:0030016 ORPHA:168816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168816 Peritoneal cystic mesothelioma HP:0100608 ORPHA:168816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168811 Malignant peritoneal mesothelioma HP:0001541 ORPHA:168811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168811 Malignant peritoneal mesothelioma HP:0001824 ORPHA:168811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168811 Malignant peritoneal mesothelioma HP:0001928 ORPHA:168811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168811 Malignant peritoneal mesothelioma HP:0002027 ORPHA:168811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168811 Malignant peritoneal mesothelioma HP:0002094 ORPHA:168811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168811 Malignant peritoneal mesothelioma HP:0002586 ORPHA:168811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168811 Malignant peritoneal mesothelioma HP:0002595 ORPHA:168811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168811 Malignant peritoneal mesothelioma HP:0002664 ORPHA:168811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168811 Malignant peritoneal mesothelioma HP:0003270 ORPHA:168811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168811 Malignant peritoneal mesothelioma HP:0010741 ORPHA:168811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0000964 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001581 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002205 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002719 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002960 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0005407 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0031292 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0000389 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001047 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001251 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001508 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001888 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002342 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002718 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002923 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0003212 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0003237 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0004429 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0005403 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0006532 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0011343 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0031402 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0045080 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0100806 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0200029 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0000218 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0000405 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0000407 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0000793 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0000924 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001260 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001336 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001875 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001878 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001880 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001882 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001904 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001999 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002099 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002110 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002665 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002841 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0003193 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0003261 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0004430 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0004789 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0005528 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0007083 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0008587 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0011109 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0031393 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0031394 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0040148 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0040218 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0045025 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0200042 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0200101 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001156 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0001250 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002020 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0002754 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0004322 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:443811 PGM3-CDG HP:0100633 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293621 X-linked endothelial corneal dystrophy HP:0000585 ORPHA:293621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293621 X-linked endothelial corneal dystrophy HP:0007663 ORPHA:293621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293621 X-linked endothelial corneal dystrophy HP:0007957 ORPHA:293621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293621 X-linked endothelial corneal dystrophy HP:0011488 ORPHA:293621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293621 X-linked endothelial corneal dystrophy HP:0000565 ORPHA:293621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293621 X-linked endothelial corneal dystrophy HP:0000639 ORPHA:293621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293621 X-linked endothelial corneal dystrophy HP:0100018 ORPHA:293621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:46724 Cerebral arteriovenous malformation HP:0100659 ORPHA:46724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46724 Cerebral arteriovenous malformation HP:0100761 ORPHA:46724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46724 Cerebral arteriovenous malformation HP:0100784 ORPHA:46724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0000277 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0000716 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0001618 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0001824 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0002015 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0005216 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0010754 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0012531 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0000159 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0000273 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0000366 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0000473 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0000643 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0002487 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0003763 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0007325 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0012049 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0031008 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0001260 ORPHA:93958 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0002098 ORPHA:93958 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93958 Oromandibular dystonia HP:0002451 ORPHA:93958 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0000707 ORPHA:148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0001987 ORPHA:148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0001992 ORPHA:148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0005979 ORPHA:148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0012379 ORPHA:148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0000988 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0001250 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0001252 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0011968 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0001263 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0410145 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0000365 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0000478 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0000505 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0001251 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0001254 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0001259 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0001596 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0002098 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0002715 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0002789 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0003690 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0000575 ORPHA:148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0000648 ORPHA:148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0002313 ORPHA:148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:148 Multiple carboxylase deficiency HP:0008311 ORPHA:148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001249 ORPHA:93952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002069 ORPHA:93952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0000750 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001270 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002317 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002600 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0007076 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0010819 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0012391 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0000338 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001272 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001288 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001310 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001350 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001513 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001621 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001712 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001763 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001848 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002079 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002186 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002307 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002345 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002359 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002540 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002650 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0003438 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0003487 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0010527 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0010529 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93952 X-linked intellectual disability, Hedera type HP:0011812 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0000952 ORPHA:30391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001396 ORPHA:30391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001508 ORPHA:30391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001410 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001525 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0002240 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0002630 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0002908 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0002910 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0003155 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0006579 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0008151 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0011984 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0011985 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0030948 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0040321 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0000602 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0000821 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0000989 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001250 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001394 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001405 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001408 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001518 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001744 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001999 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0040075 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:30391 Isolated biliary atresia HP:0001114 ORPHA:30391 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0004394 ORPHA:79665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0005227 ORPHA:79665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0003003 ORPHA:79665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0004783 ORPHA:79665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0007649 ORPHA:79665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0012032 ORPHA:79665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0025388 ORPHA:79665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0000164 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0001000 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0002895 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0006283 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0008256 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0010562 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0011069 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0100245 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0100246 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0200040 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0002342 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0002672 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0002884 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0002885 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0002894 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0003002 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0006722 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0006744 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0009592 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0011068 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0011459 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0012125 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0030434 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0030692 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0031524 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79665 Gardner syndrome HP:0100244 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001396 ORPHA:53035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0000952 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001406 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0002027 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0002908 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0003155 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0030151 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0030948 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0000113 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0000989 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001081 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001394 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001541 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001744 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001824 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001945 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001974 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0002013 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0002018 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0002039 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0002040 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0002240 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0025143 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0031964 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0032106 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0032545 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001395 ORPHA:53035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001409 ORPHA:53035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0002613 ORPHA:53035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0030153 ORPHA:53035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0100523 ORPHA:53035 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0001405 ORPHA:53035 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:53035 Caroli disease HP:0045056 ORPHA:53035 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000252 ORPHA:93950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0004325 ORPHA:93950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000248 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000327 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000582 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0001257 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0001263 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0001518 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0004322 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0008734 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0010864 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000275 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000276 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000303 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000400 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000486 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0001256 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0002023 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0011027 ORPHA:145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0030406 ORPHA:145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0100615 ORPHA:145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0003002 ORPHA:145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0002861 ORPHA:145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0002894 ORPHA:145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0012125 ORPHA:145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0001824 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002019 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002024 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002027 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002239 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0003003 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0012378 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0012174 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0000708 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0000716 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0000737 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0000739 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0001250 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0001252 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0001276 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0001522 ORPHA:144 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002017 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002076 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002516 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0007018 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0100613 ORPHA:144 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0100743 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0000505 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0000738 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0001123 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0001260 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0001288 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0001371 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0001402 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002167 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002354 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002376 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002671 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002893 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0002894 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0003006 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0003401 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0004374 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0006725 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0007256 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0010524 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0010526 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0010622 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0010786 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0100031 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0100571 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0100576 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0100615 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0100660 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0100835 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:144 Lynch syndrome HP:0200008 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0001250 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0001252 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0001951 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0001987 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0002093 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0003355 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0005961 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33408 Bullous lichen planus HP:0000989 ORPHA:33408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33408 Bullous lichen planus HP:0008066 ORPHA:33408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33408 Bullous lichen planus HP:0100725 ORPHA:33408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33408 Bullous lichen planus HP:0100783 ORPHA:33408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33408 Bullous lichen planus HP:0200034 ORPHA:33408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0001270 ORPHA:313781 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000219 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000260 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000319 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000369 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000426 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000750 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0001249 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0001250 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0001531 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0001792 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0002353 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0002421 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0002553 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0004325 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0011220 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000377 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000252 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000256 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000316 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000358 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000482 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000488 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000490 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000494 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000506 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0000664 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0001156 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0006101 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0007663 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0008589 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0010442 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0010804 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0030084 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313781 20p13 microdeletion syndrome HP:0045025 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0000256 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0000365 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0000505 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0000618 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0000648 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0000649 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0001250 ORPHA:141 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0001252 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0001263 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0001276 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0001371 ORPHA:141 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0002020 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0002353 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0002376 ORPHA:141 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0004372 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0007703 ORPHA:141 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0008872 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141 Canavan disease HP:0100543 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33402 Pediatric hepatocellular carcinoma HP:0001395 ORPHA:33402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33402 Pediatric hepatocellular carcinoma HP:0002027 ORPHA:33402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33402 Pediatric hepatocellular carcinoma HP:0002240 ORPHA:33402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33402 Pediatric hepatocellular carcinoma HP:0006254 ORPHA:33402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33402 Pediatric hepatocellular carcinoma HP:0002013 ORPHA:33402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33402 Pediatric hepatocellular carcinoma HP:0002605 ORPHA:33402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33402 Pediatric hepatocellular carcinoma HP:0012378 ORPHA:33402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33402 Pediatric hepatocellular carcinoma HP:0030242 ORPHA:33402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33402 Pediatric hepatocellular carcinoma HP:0410019 ORPHA:33402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000037 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000062 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000126 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000175 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000256 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000316 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000347 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000365 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000369 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000470 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000520 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000774 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0000878 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0001601 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0001762 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0002093 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0002119 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0030680 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0002650 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0002757 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0002779 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0002786 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0002808 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0002827 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0002980 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0002982 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0003026 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0003038 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0004322 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0004408 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0005280 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0006487 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0006584 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0007036 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0008477 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0008821 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0010781 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140 Campomelic dysplasia HP:0012368 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0003072 ORPHA:143 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0006780 ORPHA:143 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0008200 ORPHA:143 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0002148 ORPHA:143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0002150 ORPHA:143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0003165 ORPHA:143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0011766 ORPHA:143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0000121 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0000131 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0000787 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0000939 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0001609 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0001824 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0001959 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0002015 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0003072 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0010614 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0012232 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0012378 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0000083 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0000107 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0000934 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0001324 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0001733 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0002017 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0002019 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0002315 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0002574 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0002653 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0004398 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0008696 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0200025 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0002667 ORPHA:143 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0002890 ORPHA:143 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0006725 ORPHA:143 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0010788 ORPHA:143 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:143 Parathyroid carcinoma HP:0012032 ORPHA:143 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0011779 ORPHA:142 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0000475 ORPHA:142 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0000853 ORPHA:142 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0001609 ORPHA:142 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0005994 ORPHA:142 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0001605 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0002015 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0002098 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0002716 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0002781 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0004894 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0012531 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0100526 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0001618 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0001824 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0002094 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0002105 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0010307 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0010622 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0011805 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0012735 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0002575 ORPHA:142 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:142 Anaplastic thyroid carcinoma HP:0100836 ORPHA:142 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0031792 ORPHA:293603 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0000622 ORPHA:293603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0000639 ORPHA:293603 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0011487 ORPHA:293603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0007957 ORPHA:293603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0011490 ORPHA:293603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0012040 ORPHA:293603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0007663 ORPHA:293603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0000407 ORPHA:293603 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0001258 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0001347 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0002061 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0003487 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0006827 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0007002 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0009055 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0001272 ORPHA:139480 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0002066 ORPHA:139480 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001272 ORPHA:139485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0002073 ORPHA:139485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001348 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0002342 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0002376 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0003546 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0003701 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0004696 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001252 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0012752 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0000486 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001250 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001336 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001337 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001347 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0002151 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0002490 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0003128 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0003457 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0007256 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0012758 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0000365 ORPHA:139485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0000771 ORPHA:139485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001332 ORPHA:139485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0001256 ORPHA:93945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0001263 ORPHA:93945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000275 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000276 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000303 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000322 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000327 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000378 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000400 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000414 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000486 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0002292 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0004322 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93945 X-linked intellectual disability, Porteous type HP:0004325 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168829 Primary peritoneal carcinoma HP:0002017 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168829 Primary peritoneal carcinoma HP:0002019 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168829 Primary peritoneal carcinoma HP:0002027 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168829 Primary peritoneal carcinoma HP:0002586 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168829 Primary peritoneal carcinoma HP:0002664 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168829 Primary peritoneal carcinoma HP:0003270 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000160 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000175 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000252 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000272 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000347 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000378 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000414 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000431 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0001166 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0001249 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0001263 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0001522 ORPHA:93946 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0001631 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0004322 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000158 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000252 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000275 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000276 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000286 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000325 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000378 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000411 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000582 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001249 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001250 ORPHA:93947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001257 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001264 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001510 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001631 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0002299 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0004322 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0008404 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0011359 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0000083 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0000093 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0000100 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0000822 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0002907 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0004746 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0005421 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0012622 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0030888 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0001919 ORPHA:54370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0003073 ORPHA:54370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0003774 ORPHA:54370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0001658 ORPHA:54370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0001977 ORPHA:54370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0011510 ORPHA:54370 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000028 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000044 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000054 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000359 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000365 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000396 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000458 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000612 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000823 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001263 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001291 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0008572 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0008872 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0009906 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0011382 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000008 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000048 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000066 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000160 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000175 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000204 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000275 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000324 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000368 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000453 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000486 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000508 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000528 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000567 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000568 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000639 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000648 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000684 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000717 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000722 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000830 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001249 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001252 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001561 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001636 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001643 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001646 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001671 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0002020 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0030680 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0004322 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0005113 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0005280 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0007018 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0008897 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0010628 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0010751 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0011611 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0100736 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000076 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000085 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000126 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000252 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000286 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000316 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000384 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000478 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000504 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000625 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000632 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000772 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0000834 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001156 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001305 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001360 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001511 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001601 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0001883 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0002093 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0002410 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0002553 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0002575 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0002650 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0002937 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0002992 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0004209 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0004348 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0006824 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0007360 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0008551 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0010443 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0010669 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:138 CHARGE syndrome HP:0010978 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0002093 ORPHA:93941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0003312 ORPHA:93941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0004326 ORPHA:93941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0000772 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0001601 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0001671 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0001743 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0002366 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0002575 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0002777 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0011100 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0100016 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000164 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000252 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000286 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000518 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000944 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000958 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0001376 ORPHA:177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0001510 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0001596 ORPHA:177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0002231 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0002650 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0003298 ORPHA:177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0004322 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0005930 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0008064 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0008905 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0009826 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0010655 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0010864 ORPHA:177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0012368 ORPHA:177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0007843 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0011508 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0030329 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0030644 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0100014 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0100533 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0100832 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0200056 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0000541 ORPHA:179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0011506 ORPHA:179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0030530 ORPHA:179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0000532 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0000572 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0000610 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0007906 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0008046 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0011505 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0011531 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0030609 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0000518 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0000543 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0000613 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179 Birdshot chorioretinopathy HP:0000622 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002515 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002812 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003021 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003025 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0006431 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0009826 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0025369 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0030299 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0000907 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0001248 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0001385 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002970 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002980 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003015 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003026 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003411 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0005028 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0005923 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0006028 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0006208 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0006634 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0008873 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0009852 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0045079 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0000926 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0001513 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002829 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002938 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002979 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003301 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003468 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0004019 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0004042 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0002014 ORPHA:173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001324 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001649 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001941 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001944 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0002013 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0002615 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0002900 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0002901 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0002902 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0003111 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0003394 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0011036 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0011037 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0000490 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0000737 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001250 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001254 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001622 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001919 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001943 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0002027 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0002789 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0002883 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0003128 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0005268 ORPHA:173 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0007185 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0007517 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0031274 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0032155 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0032448 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001297 ORPHA:173 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0001945 ORPHA:173 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:173 Cholera HP:0011951 ORPHA:173 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254478 Lichen planus pemphigoides HP:0000962 ORPHA:254478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254478 Lichen planus pemphigoides HP:0007535 ORPHA:254478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254478 Lichen planus pemphigoides HP:0100725 ORPHA:254478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254478 Lichen planus pemphigoides HP:0200037 ORPHA:254478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254478 Lichen planus pemphigoides HP:0000989 ORPHA:254478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254478 Lichen planus pemphigoides HP:0011830 ORPHA:254478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254478 Lichen planus pemphigoides HP:0000498 ORPHA:254478 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254478 Lichen planus pemphigoides HP:0000509 ORPHA:254478 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254478 Lichen planus pemphigoides HP:0001597 ORPHA:254478 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254478 Lichen planus pemphigoides HP:0008066 ORPHA:254478 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000174 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000212 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000248 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000286 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000368 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000400 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000431 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000444 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000457 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000463 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000470 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000486 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000505 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0045075 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000545 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000592 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000768 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000772 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000774 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000940 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000944 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0000960 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0001252 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0001315 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0001377 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0001508 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0001638 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0001671 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0001732 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0001875 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0001903 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002024 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002093 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002240 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002251 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002353 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002644 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002650 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002652 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002750 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002777 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002901 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002982 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0002983 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0003027 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0003220 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0003272 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0003307 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0003312 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0004279 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0004313 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0004625 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0005019 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0005280 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0005616 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0005692 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0005871 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0005930 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0006487 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0006589 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0007703 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0008056 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0008070 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0008155 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0008499 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0008873 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0008905 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0009832 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0010301 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0010306 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0010318 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0011220 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0011849 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0012722 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0100255 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0100543 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0100569 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0100729 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:175 Cartilage-hair hypoplasia HP:0200055 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0000479 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0000486 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0000518 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0000615 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0002213 ORPHA:170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0002217 ORPHA:170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0002224 ORPHA:170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0002231 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0002299 ORPHA:170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0005338 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0005599 ORPHA:170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:170 Woolly hair HP:0010719 ORPHA:170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0012469 ORPHA:324422 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0000343 ORPHA:324422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0001290 ORPHA:324422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0002521 ORPHA:324422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0000316 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0000331 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0000463 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0000639 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0000717 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0000750 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0000817 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0001181 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0002283 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0002312 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0002421 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0004325 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0012443 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0030047 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324422 ALG13-CDG HP:0100543 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0000952 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0001396 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0001508 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0001744 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0001872 ORPHA:172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0001928 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0002024 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0002240 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0002664 ORPHA:172 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0002750 ORPHA:172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0002901 ORPHA:172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0004322 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0004349 ORPHA:172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:172 Progressive familial intrahepatic cholestasis HP:0100543 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001396 ORPHA:171 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0002960 ORPHA:171 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0012440 ORPHA:171 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001394 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001395 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001409 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001433 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001541 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001744 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001824 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001945 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0002240 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0002910 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0010638 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0012522 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0012700 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0030168 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0100279 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0100869 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0000083 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0000716 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0000938 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0000939 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0000952 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0000989 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001081 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001402 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001635 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001733 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0002027 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0002202 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0002608 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0003073 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0003459 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0003700 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0004905 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0008151 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0011892 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0012115 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0012378 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0030153 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0040275 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0100512 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0100513 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0100626 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0100646 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0100651 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0000554 ORPHA:171 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001298 ORPHA:171 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0006554 ORPHA:171 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0100575 ORPHA:171 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0001879 ORPHA:171 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0005429 ORPHA:171 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0011034 ORPHA:171 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171 Primary sclerosing cholangitis HP:0100727 ORPHA:171 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000023 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000028 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000047 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000154 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000218 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000256 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000269 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000272 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000316 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000343 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000347 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000348 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000378 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000402 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000448 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000475 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000486 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000494 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000609 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000678 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000750 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000766 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001263 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001317 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001357 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001533 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001622 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001631 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001763 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001837 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002021 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002119 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002136 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002236 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002250 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002307 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002342 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002761 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0004322 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0004492 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0004785 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0005852 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0007370 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0008551 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0008935 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0011090 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0012471 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0012506 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000194 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000238 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000331 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000407 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000453 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000722 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000954 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0000960 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001172 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001250 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001363 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001537 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001634 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0001680 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002019 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002020 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002023 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0002092 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0005876 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0006101 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0007018 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0009762 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0012433 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93932 FG syndrome type 1 HP:0040022 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000175 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000221 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000278 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000369 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000463 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000486 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000568 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000646 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000718 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000768 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000954 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001081 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001181 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001257 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001274 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001315 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001629 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001631 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001761 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001845 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002019 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002059 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002079 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002092 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002342 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002355 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002389 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002650 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002705 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002808 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0004691 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0006101 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0006532 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0006956 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0007082 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0008499 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0009468 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0009471 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0010186 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0010557 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0011670 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0030084 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0032077 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002540 ORPHA:464738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0007413 ORPHA:464738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0011344 ORPHA:464738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000047 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000232 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000252 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000286 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000303 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000316 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000322 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000348 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000482 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000494 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000508 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000519 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001250 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001252 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001344 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002209 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002263 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002465 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0005274 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0010804 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0045075 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000023 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000126 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0001627 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0009813 ORPHA:294975 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0003826 ORPHA:294975 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0033127 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000765 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000925 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0001671 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000271 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000464 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0011603 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0002088 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000175 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000104 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0003272 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0010442 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0001159 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0001518 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000987 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0000010 ORPHA:93930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0000023 ORPHA:93930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0000039 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0000056 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0000069 ORPHA:93930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0000076 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0001537 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0001539 ORPHA:93930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0002566 ORPHA:93930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0002607 ORPHA:93930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0002836 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0004378 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93930 Bladder exstrophy HP:0008736 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0000508 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0000657 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001251 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001256 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001257 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001272 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001310 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001321 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001332 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001336 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002015 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002069 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002075 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002123 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002313 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002353 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002460 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002464 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0003477 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0003693 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0007108 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0007141 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0007340 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0008316 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0000825 ORPHA:79644 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0000707 ORPHA:79644 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0001988 ORPHA:79644 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0030796 ORPHA:79644 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0031080 ORPHA:79644 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0000845 ORPHA:79644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0001520 ORPHA:79644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0031223 ORPHA:79644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0031224 ORPHA:79644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0040299 ORPHA:79644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0001249 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0001250 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0001998 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0002104 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0003118 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0008194 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0008947 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0011968 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0012758 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0002919 ORPHA:79644 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001010 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001881 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001922 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0002718 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0002719 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0012145 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0012156 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0031408 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000613 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000704 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000978 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000992 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001410 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001433 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001583 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001744 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001892 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001945 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0002205 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0002721 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0003281 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0004527 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0005406 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0005599 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0007499 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0007663 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0007703 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0007730 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0011869 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0011990 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0012176 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0020096 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000225 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000421 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000486 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000666 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000707 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000726 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000762 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000763 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000952 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000969 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0000988 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001249 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001250 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001251 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001258 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001272 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001288 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001300 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001324 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001328 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001337 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001698 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001873 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001875 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001876 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0001903 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0002155 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0002202 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0002540 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0002716 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0002902 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0002910 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0003075 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0003474 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0006308 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0006824 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0006827 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0007178 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0009830 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0011900 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0012444 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0025435 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0100543 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:167 Chédiak-Higashi syndrome HP:0005585 ORPHA:167 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:169 Ringed hair disease HP:0002213 ORPHA:169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169 Ringed hair disease HP:0010720 ORPHA:169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168 Loose anagen syndrome HP:0000612 ORPHA:168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168 Loose anagen syndrome HP:0001595 ORPHA:168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168 Loose anagen syndrome HP:0010721 ORPHA:168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163 Hereditary hyperferritinemia-cataract syndrome HP:0000518 ORPHA:163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163 Hereditary hyperferritinemia-cataract syndrome HP:0001939 ORPHA:163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0003236 ORPHA:280333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0006785 ORPHA:280333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0030099 ORPHA:280333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0001270 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0002317 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0002515 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0003551 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0008981 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0010864 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0001256 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0002465 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0002938 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0003391 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0003707 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0006466 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93928 Isolated epispadias HP:0030911 ORPHA:93928 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93928 Isolated epispadias HP:0000039 ORPHA:93928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93928 Isolated epispadias HP:0008648 ORPHA:93928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93928 Isolated epispadias HP:0000020 ORPHA:93928 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93928 Isolated epispadias HP:0000076 ORPHA:93928 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93928 Isolated epispadias HP:0002644 ORPHA:93928 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000396 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000400 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001172 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001250 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001263 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001344 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001635 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001640 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0002187 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0005781 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0006705 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000053 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000232 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000280 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000303 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000319 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000414 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000426 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001634 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001650 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001653 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0002465 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0002510 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0002540 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0002751 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0003376 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0004749 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0005180 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0005280 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0010808 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0000056 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0000070 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0000072 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0000074 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0000076 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0000085 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0000086 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0001539 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0001762 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0002023 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0002414 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0002475 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0002566 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0002827 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0002836 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0002937 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0002991 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0002992 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0008678 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0008736 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0010475 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0011027 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0011301 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93929 Cloacal exstrophy HP:0100668 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0001643 ORPHA:228190 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0001647 ORPHA:228190 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0005295 ORPHA:228190 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0005922 ORPHA:228190 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0004209 ORPHA:228190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0010047 ORPHA:228190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0011927 ORPHA:228190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0000271 ORPHA:228190 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0002716 ORPHA:160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0001824 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0001903 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0002027 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0002729 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0003565 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0011227 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0012378 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0025142 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0030783 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0100721 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0000952 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0002017 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0003270 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0008940 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0011024 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0012735 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0025066 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0030157 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0031500 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0000083 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0000790 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0001723 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0001873 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0002094 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0005214 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0006000 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0011974 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:160 Castleman disease HP:0012050 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0002438 ORPHA:324416 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0003741 ORPHA:324416 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0007973 ORPHA:324416 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000202 ORPHA:324416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000238 ORPHA:324416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0002119 ORPHA:324416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0007260 ORPHA:324416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0007700 ORPHA:324416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000078 ORPHA:324416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0004488 ORPHA:324416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000519 ORPHA:324416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000568 ORPHA:324416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0002085 ORPHA:324416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000589 ORPHA:324416 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000478 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000601 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001508 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001510 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002033 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0004322 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0011968 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000161 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000175 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000193 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000218 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000252 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000407 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000457 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000708 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000716 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000737 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000739 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000741 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001249 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001250 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001254 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001257 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001328 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001344 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002013 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002015 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002019 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002020 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002270 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002363 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002451 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002540 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002793 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002871 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0005968 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0006528 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0006979 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0007018 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0007301 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0008947 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0010654 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0011442 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0011951 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0012285 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0040327 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0045005 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0100704 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000119 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000238 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000256 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000818 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000824 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000871 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000873 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000924 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001274 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001371 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001627 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002465 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002650 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002827 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0006315 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0009062 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0009914 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0009932 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0011471 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0011787 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0012718 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0012806 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0031860 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0040064 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000601 ORPHA:93924 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0011968 ORPHA:93924 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000161 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000175 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000218 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000407 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000457 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000478 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000708 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000716 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000737 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000739 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000818 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000873 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001249 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001328 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001508 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001510 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002019 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002020 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002033 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002270 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002465 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0004322 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0006528 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0006979 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0007018 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0011442 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0011951 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0012285 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000119 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000193 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000238 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000252 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000256 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000741 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000824 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000871 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0000924 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001250 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001254 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001257 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001274 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001627 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002013 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002015 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002363 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002451 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002650 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002793 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002827 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002871 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0005968 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0007301 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0008947 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0009062 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0010654 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0011471 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0011787 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0012718 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0031860 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0040064 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0040327 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0100704 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001344 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0001371 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0002540 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0006315 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0009914 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0009932 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0012806 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93924 Lobar holoprosencephaly HP:0045005 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000478 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000601 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001508 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001510 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002033 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0004322 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0011968 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000161 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000175 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000193 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000218 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000252 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000407 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000457 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000708 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000716 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000737 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000739 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000741 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001249 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001250 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001254 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001257 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001328 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001344 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002013 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002015 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002019 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002020 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002270 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002363 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002451 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002540 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002793 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002871 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0005968 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0006528 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0006979 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0007018 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0007301 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0008947 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0010654 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0011442 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0011951 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0012285 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0040327 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0045005 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0100704 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000119 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000238 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000256 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000818 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000824 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000871 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000873 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0000924 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001274 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001371 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0001627 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002465 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002650 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0002827 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0006315 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0009062 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0009914 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0009932 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0011471 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0011787 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0012718 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0012806 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0031860 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93925 Alobar holoprosencephaly HP:0040064 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000137 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000470 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000823 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000837 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000879 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000938 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000939 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001510 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001511 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002750 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002967 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0003492 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0004322 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0006610 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0006709 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0008209 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0008222 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0008897 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0012774 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0040072 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0100625 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0008209 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000218 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000278 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000347 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000365 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000369 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000403 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000465 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000474 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000475 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000708 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000739 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000758 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000786 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000822 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001952 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000869 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000872 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000914 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001328 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001397 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001513 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001531 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001800 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002162 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002705 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002808 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002857 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002910 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0005113 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0005689 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0006438 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0006456 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0007477 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0009759 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0010044 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0010047 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0010510 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000085 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000086 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000164 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000286 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000476 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000486 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000508 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000545 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000716 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000767 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000842 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000987 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000995 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001004 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001045 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001231 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001385 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001395 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001596 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001631 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001647 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001657 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001658 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001680 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001763 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001812 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001831 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002608 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002611 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002650 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002960 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0003067 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0003186 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0003764 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0004349 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0005603 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0005978 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0007018 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0003077 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0008572 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0009118 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0011307 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0012434 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0100646 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000150 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0000471 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0001394 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002037 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002613 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002647 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0002861 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0004383 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0004386 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0005294 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0008678 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99226 Monosomy X HP:0012758 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0000737 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001254 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001263 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001298 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001324 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001638 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001985 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001987 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002093 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002240 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002615 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002910 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0003162 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0003201 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0003215 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0003234 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0004756 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0008331 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0011675 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0003011 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0045045 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0000252 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0000639 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0000961 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001250 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001259 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001399 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002045 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002882 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0100520 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0030067 ORPHA:370348 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0000473 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0000952 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0000989 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001250 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001265 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001541 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001733 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001824 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001892 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001903 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001965 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002017 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002039 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002315 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002321 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002574 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002894 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0003270 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0003418 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0003474 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0007340 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0010302 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0010784 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0012513 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0030692 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0031030 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0031501 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0100608 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0100615 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0100711 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0000520 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0000826 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0006254 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0011932 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0025435 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0100849 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000137 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000470 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000823 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000837 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000879 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000938 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000939 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001510 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001511 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002750 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002967 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0003492 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0004322 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0006610 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0006709 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0008209 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0008222 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0008897 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0012774 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0040072 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0100625 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0008209 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000218 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000278 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000347 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000365 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000369 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000403 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000465 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000474 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000475 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000708 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000739 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000758 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000786 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000822 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001952 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000869 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000872 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000914 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001328 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001397 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001513 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001531 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001800 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002162 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002705 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002808 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002857 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002910 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0005113 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0005689 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0006438 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0006456 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0007477 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0009759 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0010044 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0010047 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0010510 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000085 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000086 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000164 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000286 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000476 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000486 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000508 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000545 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000716 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000767 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000842 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000987 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000995 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001004 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001045 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001231 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001385 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001395 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001596 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001631 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001647 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001657 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001658 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001680 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001763 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001812 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001831 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002608 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002611 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002650 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002960 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0003067 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0003186 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0003764 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0004349 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0005603 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0005978 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0007018 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0003077 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0008572 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0009118 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0011307 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0012434 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0100646 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000150 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0000471 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0001394 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002037 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002613 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002647 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0002861 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0004383 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0004386 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0005294 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0008678 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99228 Mosaic monosomy X HP:0012758 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:112 Bartter syndrome HP:0001939 ORPHA:112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:112 Bartter syndrome HP:0004322 ORPHA:112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:111 Barth syndrome HP:0001644 ORPHA:111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:111 Barth syndrome HP:0001706 ORPHA:111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:111 Barth syndrome HP:0001874 ORPHA:111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:111 Barth syndrome HP:0008322 ORPHA:111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:114 Auriculoosteodysplasia HP:0000400 ORPHA:114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:114 Auriculoosteodysplasia HP:0000889 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:114 Auriculoosteodysplasia HP:0005916 ORPHA:114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:114 Auriculoosteodysplasia HP:0001385 ORPHA:114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:114 Auriculoosteodysplasia HP:0003019 ORPHA:114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:114 Auriculoosteodysplasia HP:0003042 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:114 Auriculoosteodysplasia HP:0004322 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:114 Auriculoosteodysplasia HP:0006501 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:114 Auriculoosteodysplasia HP:0009906 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:114 Auriculoosteodysplasia HP:0009907 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0001056 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0002208 ORPHA:113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0002209 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0045075 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0001482 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0002671 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0003777 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0008070 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0009886 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0200102 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0000400 ORPHA:113 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0000889 ORPHA:113 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0001167 ORPHA:113 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0100720 ORPHA:113 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:113 Bazex-Dupré-Christol syndrome HP:0100777 ORPHA:113 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000003 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000028 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000100 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000135 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000365 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000368 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000426 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000470 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000494 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000512 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000580 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000639 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0000822 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0001162 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0001249 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0001395 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0001513 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0002167 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0002230 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0003202 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0004322 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0006101 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0008724 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0008736 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:110 Bardet-Biedl syndrome HP:0010747 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0001260 ORPHA:228169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0001288 ORPHA:228169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0002015 ORPHA:228169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0002063 ORPHA:228169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0002067 ORPHA:228169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0002075 ORPHA:228169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0100022 ORPHA:228169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0002480 ORPHA:529799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0003265 ORPHA:529799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0006579 ORPHA:529799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0006958 ORPHA:529799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0000407 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0000502 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0001250 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0001276 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0001343 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0001878 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0001945 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0002871 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0003073 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0011968 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0012696 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0032106 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0100021 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0003228 ORPHA:529799 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0025331 ORPHA:529799 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529799 Acute bilirubin encephalopathy HP:0040187 ORPHA:529799 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000098 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000189 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000256 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000268 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000343 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000347 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000400 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000445 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000463 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000587 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000767 ORPHA:109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000872 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000965 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001004 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001009 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001249 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001250 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001252 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001324 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001482 ORPHA:109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001681 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0004942 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001933 ORPHA:109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001943 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002007 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002167 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002170 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002194 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002250 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002650 ORPHA:109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002664 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002665 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002750 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002858 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002890 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0003196 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0003198 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0003202 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0003764 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0004322 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0004326 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0004390 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0005306 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0005692 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0007400 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0007565 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0009023 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0010784 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0011304 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0012032 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0100013 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0100026 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0100641 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0100761 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0200008 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0000083 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0000613 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0000716 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0000952 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0000975 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001259 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001289 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001376 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001399 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001635 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001658 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001744 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001864 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001873 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001878 ORPHA:108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001882 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0001945 ORPHA:108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0002017 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0002039 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0002093 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0002240 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0002315 ORPHA:108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0002719 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0002829 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0003326 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0004936 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0005521 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0012378 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0012735 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0100724 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:108 Babesiosis HP:0100776 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90000 Erythema elevatum diutinum HP:0000988 ORPHA:90000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90000 Erythema elevatum diutinum HP:0002829 ORPHA:90000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90000 Erythema elevatum diutinum HP:0003326 ORPHA:90000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90000 Erythema elevatum diutinum HP:0008066 ORPHA:90000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90000 Erythema elevatum diutinum HP:0010702 ORPHA:90000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90000 Erythema elevatum diutinum HP:0200029 ORPHA:90000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90000 Erythema elevatum diutinum HP:0200036 ORPHA:90000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90000 Erythema elevatum diutinum HP:0200037 ORPHA:90000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0000076 ORPHA:105 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0000083 ORPHA:105 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0000010 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0000021 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0000072 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0000126 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0001562 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0003270 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0004321 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0010479 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0010955 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0000110 ORPHA:105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0001541 ORPHA:105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:105 Atresia of urethra HP:0010444 ORPHA:105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0007763 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0000622 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0000648 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0007924 ORPHA:104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0200125 ORPHA:104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0000576 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0000603 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0012841 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0001251 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0002174 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0003198 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0004309 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0009830 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:104 Leber hereditary optic neuropathy HP:0011675 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000074 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000083 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000175 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000278 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000365 ORPHA:107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000384 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0008572 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0008678 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0011388 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000003 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000076 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000126 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000402 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0000413 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0004452 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0008586 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0009796 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0010628 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:107 BOR syndrome HP:0011481 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0002896 ORPHA:90003 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0031140 ORPHA:90003 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0001945 ORPHA:90003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0002027 ORPHA:90003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0030057 ORPHA:90003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0000819 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0001080 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0001394 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0001824 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0002013 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0002018 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0003270 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0025406 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0410369 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0031956 ORPHA:90003 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0031964 ORPHA:90003 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90003 Inflammatory pseudotumor of the liver HP:0006254 ORPHA:90003 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002075 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002073 ORPHA:101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0000597 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0000639 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0000726 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001138 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001152 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001250 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001251 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001260 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001265 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001266 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001310 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001336 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002066 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002070 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002078 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002345 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0004305 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0010831 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0010867 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0030890 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0100543 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0000643 ORPHA:101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002354 ORPHA:101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0012048 ORPHA:101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0000035 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0000147 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0000486 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0000496 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0000639 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0000819 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0000823 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0001250 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0001251 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0001257 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0001260 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0001288 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0001337 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0001508 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0001888 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0002167 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0002205 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0002216 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0002664 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0002715 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0002721 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0002910 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0003202 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0003220 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0004313 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0004322 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0005374 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0005599 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0005978 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0007495 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0007565 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0008065 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0010515 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0100022 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0100543 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0100579 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100 Ataxia-telangiectasia HP:0100585 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0000640 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0001260 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0001300 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002019 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002063 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002066 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002067 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002073 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002172 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002174 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002310 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002322 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002359 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0012332 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002494 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0002530 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0004926 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0005341 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0007256 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0008652 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0010307 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0010536 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0012658 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0012670 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0030015 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0030880 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:102 Multiple system atrophy HP:0100595 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000822 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000842 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000877 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000956 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0001397 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0002155 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0100578 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000789 ORPHA:280356 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0003635 ORPHA:280356 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0003758 ORPHA:280356 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0008981 ORPHA:280356 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0009017 ORPHA:280356 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000147 ORPHA:280356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000876 ORPHA:280356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0001395 ORPHA:280356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0003117 ORPHA:280356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001010 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001249 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001250 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001252 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001263 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001328 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0002216 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0005599 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0100022 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0000545 ORPHA:33445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001337 ORPHA:33445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0000486 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0000587 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0000639 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0000648 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001251 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001257 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001276 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001321 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0002063 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0002120 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0002205 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0002334 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0003552 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0007440 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0007754 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0008059 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0012157 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0100308 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0003037 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0006202 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0006378 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0008095 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0010044 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0100769 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001941 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001942 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001945 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0002013 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0002149 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0002789 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0002919 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0011446 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0000741 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001259 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001262 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001894 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001944 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001974 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001987 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001993 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0002014 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0004372 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0012735 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0000713 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0000822 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0000969 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0000980 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001250 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001251 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001252 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001257 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001265 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001270 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001824 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001943 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0002039 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0002151 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0002240 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0002615 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0003074 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0007308 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0012523 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0012705 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0500001 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0001256 ORPHA:134 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:134 Beta-ketothiolase deficiency HP:0010864 ORPHA:134 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0002795 ORPHA:133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0006516 ORPHA:133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0100326 ORPHA:133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0001824 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0002093 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0002094 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0005607 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0006527 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0012378 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0012735 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0025179 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0025393 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0025439 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0030877 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0030878 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0031392 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0002206 ORPHA:133 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0100721 ORPHA:133 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:133 Chronic beryllium disease HP:0011121 ORPHA:133 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000347 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000418 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000819 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000855 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000991 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0002155 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0002216 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0002240 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003712 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003717 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003758 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0005328 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0008065 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0009125 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0100578 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000147 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000287 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000311 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000468 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000869 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000956 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000963 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001397 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001597 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001870 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0002621 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003233 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003292 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003635 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0004416 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0004943 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0006288 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0008968 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0008993 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0009771 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0030685 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0040266 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001635 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001639 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001677 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001733 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001744 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0002230 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003198 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003326 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0005115 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0005150 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0100607 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0004308 ORPHA:280365 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002352 ORPHA:136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002500 ORPHA:136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0032325 ORPHA:136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0040329 ORPHA:136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000741 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001297 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000712 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002076 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002077 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002326 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002637 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0100543 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000716 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000726 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000739 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000819 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000822 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001250 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001257 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001260 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001288 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001289 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001298 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001300 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001342 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002015 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002140 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002170 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002301 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002333 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002354 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002463 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0007185 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0007236 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0010794 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0010992 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0012444 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0031843 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0100545 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002381 ORPHA:136 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0006978 ORPHA:135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0410263 ORPHA:135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000648 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000737 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001250 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001257 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001272 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001347 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0002059 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0002070 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0002078 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0002344 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0006855 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0007366 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0008209 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000089 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000133 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000252 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000518 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000618 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000708 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000741 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000786 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0000869 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001260 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001264 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001269 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001270 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001298 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001310 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001371 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001433 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001510 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001511 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001558 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001562 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0001733 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0002013 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0002015 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0002076 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0002315 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0002804 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0006956 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0007361 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0008288 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0008947 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0011342 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0011968 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0012690 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0012704 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0032398 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0100543 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0100653 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:135 CACH syndrome HP:0004481 ORPHA:135 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0000407 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0000648 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0000750 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0001260 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0001284 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0001310 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002066 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002073 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002075 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002080 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002460 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002828 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0003487 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0007108 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0007141 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0008568 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0011712 ORPHA:130 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0012251 ORPHA:130 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0001649 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0001663 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0004751 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0004755 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0011704 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0011705 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0004308 ORPHA:130 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0011715 ORPHA:130 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0001279 ORPHA:130 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:130 Brugada syndrome HP:0001695 ORPHA:130 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:132 Butyrylcholinesterase deficiency HP:0012379 ORPHA:132 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:132 Butyrylcholinesterase deficiency HP:0002878 ORPHA:132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:132 Butyrylcholinesterase deficiency HP:0001392 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:132 Butyrylcholinesterase deficiency HP:0001635 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:132 Butyrylcholinesterase deficiency HP:0001658 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:132 Butyrylcholinesterase deficiency HP:0002664 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:132 Butyrylcholinesterase deficiency HP:0003470 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:132 Butyrylcholinesterase deficiency HP:0004887 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:132 Butyrylcholinesterase deficiency HP:0031035 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0000952 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0001082 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0001394 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0001409 ORPHA:131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0001541 ORPHA:131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0001744 ORPHA:131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0001824 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0001945 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0002024 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0002027 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0002040 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0002239 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0002240 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0002586 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0002910 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0005214 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0005244 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:131 Budd-Chiari syndrome HP:0006554 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0000121 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0000128 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0000729 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0001263 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0002133 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0002194 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0002197 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0002465 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0002917 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0005567 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0006872 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0012726 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0000164 ORPHA:300493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0001999 ORPHA:300493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0003165 ORPHA:300493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0004322 ORPHA:300493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0000716 ORPHA:300493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0002515 ORPHA:300493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0002814 ORPHA:300493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0005101 ORPHA:300493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0000739 ORPHA:300493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0001167 ORPHA:300493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0002007 ORPHA:300493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0002829 ORPHA:300493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300493 Sagliker syndrome HP:0100649 ORPHA:300493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000028 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000046 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000135 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000202 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000252 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000256 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000280 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000336 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000365 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000490 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000508 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000518 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000574 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000581 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000639 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000771 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001182 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001249 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001250 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001252 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001769 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001831 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001836 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001956 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0003202 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0003272 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0004322 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0005692 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0008070 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0008734 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0008736 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0008872 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0009748 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0009830 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000286 ORPHA:126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000486 ORPHA:126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000581 ORPHA:126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0011481 ORPHA:126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0008209 ORPHA:126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000508 ORPHA:126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000545 ORPHA:126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000639 ORPHA:126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000664 ORPHA:126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0005280 ORPHA:126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:129 Pseudopelade of Brocq HP:0001581 ORPHA:129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:129 Pseudopelade of Brocq HP:0001595 ORPHA:129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:129 Pseudopelade of Brocq HP:0001596 ORPHA:129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:129 Pseudopelade of Brocq HP:0001597 ORPHA:129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:129 Pseudopelade of Brocq HP:0002209 ORPHA:129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:129 Pseudopelade of Brocq HP:0100725 ORPHA:129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:129 Pseudopelade of Brocq HP:0100825 ORPHA:129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:129 Pseudopelade of Brocq HP:0100840 ORPHA:129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:129 Pseudopelade of Brocq HP:0200034 ORPHA:129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:123 Björnstad syndrome HP:0000407 ORPHA:123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:123 Björnstad syndrome HP:0001596 ORPHA:123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:123 Björnstad syndrome HP:0002299 ORPHA:123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:123 Björnstad syndrome HP:0000135 ORPHA:123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:123 Björnstad syndrome HP:0001249 ORPHA:123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:122 Birt-Hogg-Dubé syndrome HP:0001012 ORPHA:122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:122 Birt-Hogg-Dubé syndrome HP:0002097 ORPHA:122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:122 Birt-Hogg-Dubé syndrome HP:0002107 ORPHA:122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:122 Birt-Hogg-Dubé syndrome HP:0002865 ORPHA:122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:122 Birt-Hogg-Dubé syndrome HP:0002897 ORPHA:122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:122 Birt-Hogg-Dubé syndrome HP:0005584 ORPHA:122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:122 Birt-Hogg-Dubé syndrome HP:0007703 ORPHA:122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:122 Birt-Hogg-Dubé syndrome HP:0010609 ORPHA:122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:122 Birt-Hogg-Dubé syndrome HP:0100632 ORPHA:122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:122 Birt-Hogg-Dubé syndrome HP:0200034 ORPHA:122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0001510 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0001511 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0001518 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002715 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0004313 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0008850 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0008887 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000272 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000275 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000278 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000347 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000388 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000855 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000957 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000988 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000992 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0001010 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002020 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002664 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002719 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002720 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002850 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0003251 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0004315 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0004396 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0008209 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0031393 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0032218 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0040195 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000010 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000027 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000554 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000653 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000798 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000819 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0001009 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0001029 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0001818 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002090 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002232 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002665 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002863 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0004808 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0005353 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0006510 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0006721 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0006758 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0008066 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0008069 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0011110 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0011471 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0011947 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0012384 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0012387 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0012743 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0020105 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0025615 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0031123 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0032170 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0100013 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0100273 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0100825 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0000488 ORPHA:125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002667 ORPHA:125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0002878 ORPHA:125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0012126 ORPHA:125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:125 Bloom syndrome HP:0100751 ORPHA:125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0012410 ORPHA:124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0030270 ORPHA:124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000234 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000980 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001254 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001510 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001518 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001896 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0005518 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0005532 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0011904 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0012133 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000047 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000085 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000104 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000119 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000185 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000218 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000465 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000470 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000912 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001199 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001227 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001627 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001629 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001631 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001882 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001895 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0002817 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0002863 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0004322 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0009777 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0009778 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0009944 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0012758 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0020118 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0410030 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000252 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000286 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000294 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000316 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000347 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000369 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000431 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000486 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000508 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0000519 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001087 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001680 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001790 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001873 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001875 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0001894 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0002669 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0004808 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0005280 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0006758 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0008551 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:124 Blackfan-Diamond anemia HP:0040276 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0004756 ORPHA:45453 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0001635 ORPHA:45453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0001695 ORPHA:45453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0006677 ORPHA:45453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0011710 ORPHA:45453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0031595 ORPHA:45453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0001557 ORPHA:45453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0004755 ORPHA:45453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0005152 ORPHA:45453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0009729 ORPHA:45453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0001716 ORPHA:45453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45453 Incessant infant ventricular tachycardia HP:0025169 ORPHA:45453 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0010885 ORPHA:399180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0001376 ORPHA:399180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0002653 ORPHA:399180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0002960 ORPHA:399180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0030955 ORPHA:399180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0001370 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0002355 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0002664 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0002725 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0003549 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0004377 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0031520 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0100724 ORPHA:399180 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0003115 ORPHA:45452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0004755 ORPHA:45452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0005150 ORPHA:45452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0011675 ORPHA:45452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0002789 ORPHA:45452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0004763 ORPHA:45452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0005162 ORPHA:45452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0012664 ORPHA:45452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0025074 ORPHA:45452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0001520 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0001789 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0002098 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0008872 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0009800 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45452 Idiopathic neonatal atrial flutter HP:0025116 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49804 Lichen amyloidosis HP:0000989 ORPHA:49804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49804 Lichen amyloidosis HP:0200034 ORPHA:49804 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0007126 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0008944 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0011399 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0200101 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0030051 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0003551 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0003738 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0008963 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0008994 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0031108 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0002747 ORPHA:45448 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0002505 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0003731 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0003749 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0003698 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0002355 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0007149 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0008954 ORPHA:45448 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0003547 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0009027 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0009053 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0003326 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0003552 ORPHA:45448 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0001626 ORPHA:45448 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:45448 Miyoshi myopathy HP:0008981 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0001945 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0002922 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0011972 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0012229 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0025258 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0031179 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0000613 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0000967 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0000988 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0002039 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0002315 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0002587 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0004372 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0011227 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0100806 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0000083 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0000236 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0000365 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0000737 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0000979 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0001085 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0001250 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0001254 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0002329 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0002516 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0002615 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0003401 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0001297 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0002045 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0002383 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0002643 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0006824 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0011880 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:33475 Meningococcal meningitis HP:0031273 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0000750 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0002058 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0002136 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0002355 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0002515 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0003198 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0003236 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0003391 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0003557 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0003749 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0008981 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0001638 ORPHA:119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0002913 ORPHA:119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000098 ORPHA:116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001520 ORPHA:116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0002664 ORPHA:116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000105 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000112 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000154 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000158 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000269 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000280 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000303 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000363 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000520 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000776 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000995 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001052 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001139 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001513 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001528 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001537 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001539 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001561 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001582 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001622 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001738 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001943 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001998 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0002150 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0003271 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0005616 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0006267 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0008523 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0009908 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0011800 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0030720 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0100555 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0100876 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000309 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000023 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000028 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000073 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000076 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000150 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000175 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000239 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000260 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000329 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000362 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000787 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000821 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001540 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001639 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001640 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001744 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0001901 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0002167 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0002240 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0030680 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0002667 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0002859 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0002884 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0003006 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0005487 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0005562 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0006254 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0006744 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0008186 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0008676 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0008872 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0010535 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0012090 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0012758 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0030255 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0100243 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0100589 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0000852 ORPHA:116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:116 Beckwith-Wiedemann syndrome HP:0002308 ORPHA:116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0000218 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0001083 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0001166 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0001371 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0001387 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0001519 ORPHA:115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0001533 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0001634 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0004942 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0002247 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0030680 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0002566 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0002575 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0002650 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0002803 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0002804 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0003011 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0008453 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0008544 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0009901 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:115 Congenital contractural arachnodactyly HP:0100490 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0001030 ORPHA:251393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0008066 ORPHA:251393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0002215 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0002225 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0004529 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0006297 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0008404 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0009722 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0011073 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0031045 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0032156 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0001057 ORPHA:251393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0001810 ORPHA:251393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0004552 ORPHA:251393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0008391 ORPHA:251393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0000987 ORPHA:251393 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0001056 ORPHA:251393 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0003121 ORPHA:251393 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251393 Localized junctional epidermolysis bullosa HP:0004057 ORPHA:251393 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:118 Beta-mannosidosis HP:0000365 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:118 Beta-mannosidosis HP:0001249 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:118 Beta-mannosidosis HP:0001250 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:118 Beta-mannosidosis HP:0001999 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:118 Beta-mannosidosis HP:0002205 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:118 Beta-mannosidosis HP:0005247 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0000083 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0000155 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0000488 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0000518 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0000613 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0000708 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001061 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001097 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001250 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001251 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001269 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001347 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001369 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001482 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001637 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001653 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001659 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001701 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001744 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001824 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002039 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002076 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002102 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002105 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002202 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002239 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002354 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002383 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002516 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002633 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002829 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0003326 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0003401 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0004936 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0006824 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0007256 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0010885 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0011107 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0012378 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0012649 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0100326 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0100614 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0100653 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0100654 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0100758 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0100820 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0000618 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0000737 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001287 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001288 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001289 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001658 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001733 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0001945 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002017 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002024 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002027 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002113 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002204 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002321 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002376 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002637 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0002716 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0004420 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0008066 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0100584 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0100796 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:117 Behçet disease HP:0200034 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0001344 ORPHA:280384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0002376 ORPHA:280384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0003121 ORPHA:280384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0010864 ORPHA:280384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000154 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000158 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0002373 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0002987 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0006380 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0006466 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000218 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000322 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000574 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000664 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0002015 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0002378 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0007350 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0011448 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000377 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0100712 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0001945 ORPHA:228123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002090 ORPHA:228123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002721 ORPHA:228123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0003237 ORPHA:228123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0003496 ORPHA:228123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000707 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000987 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000988 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000989 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0001369 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0001880 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002098 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002105 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002113 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002716 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002922 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0003326 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0011450 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0011919 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0011921 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0011972 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0012219 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0012229 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0012282 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0012378 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0012490 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0012500 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0012735 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0025084 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0025615 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0030351 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0032177 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0032217 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0032252 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0100721 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0100749 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0200034 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0200035 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0200149 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000014 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000077 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000083 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000119 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000238 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000365 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000479 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000613 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000622 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000751 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000818 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000885 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0000925 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0005916 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0001250 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0001392 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0001701 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0001733 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0001743 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0001783 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0001871 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002315 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002586 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002633 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002637 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002682 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002754 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0002797 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0010460 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0010461 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0011314 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0012864 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0020101 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0025637 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0031179 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0032161 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228123 Coccidioidomycosis HP:0100543 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000750 ORPHA:96148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001249 ORPHA:96148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001263 ORPHA:96148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001328 ORPHA:96148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001999 ORPHA:96148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000219 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000356 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000431 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000486 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000708 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000805 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001508 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002280 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002395 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002465 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002719 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0008897 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0008947 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0030084 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000076 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000085 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000119 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000175 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000218 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000252 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000286 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000319 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000324 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000347 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000369 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000426 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000448 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000483 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000545 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000582 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000657 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000718 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000954 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001156 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001182 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001250 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001257 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001321 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001349 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001622 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001631 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001643 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001763 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001852 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002169 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002317 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002360 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002389 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0004209 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0004322 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0005709 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0006956 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0007010 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0007018 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0007068 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0008081 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0008527 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0010743 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0011968 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000009 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000248 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000325 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000337 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000341 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000349 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000411 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000494 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000520 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000601 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000739 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0000767 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001212 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001251 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001363 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001385 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001800 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0001919 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002007 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002023 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002827 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0002938 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0003196 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0003298 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0003691 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0005487 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0008554 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96148 Distal monosomy 10q HP:0011376 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000232 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000248 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000316 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000463 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001249 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001252 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001263 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001328 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002300 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002381 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002381 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002553 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0003196 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0005469 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0010529 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000028 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000035 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000158 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000252 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000664 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000717 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001250 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001513 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001671 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002121 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002133 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002714 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0010808 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0011097 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0011800 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000023 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000076 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000083 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000365 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000708 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000716 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000737 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000739 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000741 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001274 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001331 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001508 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001510 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001636 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001650 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001659 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001680 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001710 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002119 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002120 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002360 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0008736 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0011968 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0012157 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0100308 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0100541 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0000750 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001260 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001310 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0002066 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0002080 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0002194 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0010862 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0000570 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0000639 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0000657 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001270 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001272 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001290 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0002075 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0006855 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0012434 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0100543 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001251 ORPHA:208513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001263 ORPHA:208513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208513 Spinocerebellar ataxia type 29 HP:0025405 ORPHA:208513 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000218 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000252 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000272 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000275 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000276 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000286 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000308 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000358 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000426 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000486 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000582 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000678 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000737 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000750 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0001249 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0001250 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0001263 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0001302 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0001533 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0002126 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0002381 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0002360 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0002538 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0002751 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0002938 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0007874 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0010511 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0025406 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0100807 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000708 ORPHA:251383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000718 ORPHA:251383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0000752 ORPHA:251383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0001290 ORPHA:251383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0001382 ORPHA:251383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251383 CK syndrome HP:0003107 ORPHA:251383 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002194 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0012368 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000369 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0009437 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0012741 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0004904 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000113 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001611 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001999 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001513 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000248 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0009904 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002705 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000319 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001792 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000280 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000171 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001176 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001833 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0011407 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000252 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0010818 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001249 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000819 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0004322 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000752 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0007328 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0008770 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000742 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000086 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002893 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000347 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0008551 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002987 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002751 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000054 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000750 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001510 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000260 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000954 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0004691 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001643 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001655 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0005129 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0008499 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0007573 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0008513 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001531 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000506 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0009891 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000343 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000161 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0011069 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000256 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000494 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002021 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000414 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000463 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002213 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0004209 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0008081 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002032 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002247 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001734 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0005912 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002007 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0005819 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001845 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000126 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000076 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0006533 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001263 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0001290 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0002003 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0000470 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96149 Distal monosomy 12q HP:0010055 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0011904 ORPHA:251380 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0045047 ORPHA:251380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0000488 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0001744 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0001746 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0001923 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0002027 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0002113 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0002829 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0004840 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0008346 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0032169 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0000708 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0000712 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0000716 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0000739 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0001328 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0002360 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0002549 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0007018 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0011458 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0030223 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0040264 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280397 Familial Alzheimer-like prion disease HP:0100543 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000316 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001249 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001999 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0006818 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0011451 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0045028 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000269 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000308 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000340 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000341 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000350 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000369 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000431 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000445 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001250 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001511 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002683 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0003808 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0011344 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0011968 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0012736 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000268 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000479 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001181 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001272 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001274 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001631 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001655 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001838 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002015 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002079 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002098 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002269 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002514 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0006270 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000987 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001030 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001510 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001903 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0004325 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0008066 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0031903 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000670 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001056 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001508 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001581 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002015 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002019 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002020 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002031 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002043 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0003073 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0003202 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0003234 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0004395 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0007400 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0010450 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0011968 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0031831 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0032676 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0040303 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0100512 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0200041 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000160 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000572 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000716 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000739 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000823 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001057 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001371 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001644 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001798 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001802 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002164 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0003764 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0004057 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0010296 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0011471 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0012390 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0200020 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002860 ORPHA:89842 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0000989 ORPHA:89843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0008066 ORPHA:89843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0003019 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0008404 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0009811 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0012221 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0100725 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0200035 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0000152 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0000962 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0001056 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0001075 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0001482 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0002973 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0003341 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0004334 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0008388 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0100699 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0200034 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0003212 ORPHA:89843 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001371 ORPHA:440713 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0002804 ORPHA:440713 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0012768 ORPHA:440713 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000023 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000083 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000091 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000239 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000256 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000348 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000586 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000601 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001385 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001396 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001409 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001540 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001623 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001903 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0002119 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0002570 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0002611 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0004322 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0004840 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0008850 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0011400 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0011998 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0012115 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0012157 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0100886 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0000496 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0000726 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0000743 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001249 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001263 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001272 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001300 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001332 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001337 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002059 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002063 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002067 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002313 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002360 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002448 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0012332 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002465 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0012675 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0012678 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0000648 ORPHA:329284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0000718 ORPHA:329284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001250 ORPHA:329284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000509 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000554 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000708 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000978 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000988 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001034 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001055 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001369 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001637 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001701 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001744 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001954 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001974 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002013 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002014 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002019 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002027 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002076 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002102 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002321 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002586 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002633 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002716 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002829 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0003326 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0003401 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0003565 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0005214 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0006824 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0010783 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0011227 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0012733 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100537 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100539 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100614 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100658 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100749 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100776 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100781 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100796 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98797 Isochromosomy Yp HP:0000027 ORPHA:98797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98797 Isochromosomy Yp HP:0000062 ORPHA:98797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98797 Isochromosomy Yp HP:0000771 ORPHA:98797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98797 Isochromosomy Yp HP:0003251 ORPHA:98797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98797 Isochromosomy Yp HP:0008193 ORPHA:98797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98797 Isochromosomy Yp HP:0008734 ORPHA:98797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98798 Isochromosomy Yq HP:0000027 ORPHA:98798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98798 Isochromosomy Yq HP:0000062 ORPHA:98798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98798 Isochromosomy Yq HP:0000771 ORPHA:98798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98798 Isochromosomy Yq HP:0003248 ORPHA:98798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98798 Isochromosomy Yq HP:0003251 ORPHA:98798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98798 Isochromosomy Yq HP:0008193 ORPHA:98798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98798 Isochromosomy Yq HP:0008734 ORPHA:98798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98798 Isochromosomy Yq HP:0012871 ORPHA:98798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000028 ORPHA:98793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001513 ORPHA:98793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002119 ORPHA:98793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0008872 ORPHA:98793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000044 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000046 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000060 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000064 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000486 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000504 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000708 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000709 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000717 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000729 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000786 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000789 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000819 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000823 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000824 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001010 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001252 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001263 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001328 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001508 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001773 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002205 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002342 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002360 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002591 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002650 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0003241 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0004322 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0005599 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0007730 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0007874 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0008734 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0008770 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0009088 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0010627 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0011734 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0011787 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012104 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012105 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012166 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012411 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012412 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012650 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0025160 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0030339 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0031507 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0100716 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0100739 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0200055 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000938 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000939 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001250 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001256 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001385 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001518 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001558 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002578 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002714 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002870 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002871 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0006889 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0010741 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0010829 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0031100 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0031169 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000826 ORPHA:98793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001250 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001263 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002353 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0004485 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0005484 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0011203 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0012758 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000154 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000486 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000687 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000729 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000736 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000748 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000752 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001010 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001513 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002019 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002033 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002079 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002167 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002307 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002395 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002650 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0004302 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0005469 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0005599 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0007730 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0008947 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0010808 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0010864 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0011968 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0012448 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0040082 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0100703 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0100738 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000303 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001251 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001336 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001337 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001344 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002015 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002046 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002136 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002141 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002465 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0010505 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0040196 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0100022 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0100023 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0000154 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0000687 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0001010 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0001249 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0001250 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0001263 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002353 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002395 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002465 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0005599 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0007730 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0010808 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0011968 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0100703 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0000303 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002015 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002033 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002046 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002069 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002136 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002141 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002167 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0004485 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0005484 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0007270 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0008947 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0011185 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0025190 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000028 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000047 ORPHA:98791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000218 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000252 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000272 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000278 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000286 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000316 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000337 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000347 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000348 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000368 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000431 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000470 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000494 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000768 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000978 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001249 ORPHA:98791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001252 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001371 ORPHA:98791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001508 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001762 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001831 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001935 ORPHA:98791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0002007 ORPHA:98791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0002167 ORPHA:98791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0004322 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0009891 ORPHA:98791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0009906 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0011903 ORPHA:98791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0012378 ORPHA:98791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0100840 ORPHA:98791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0010876 ORPHA:264675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0001531 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0002091 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0002098 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0004887 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0012418 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0025391 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0001649 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0002789 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0003651 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0011949 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0012735 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0030057 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0030830 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0031029 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0000962 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0000972 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001231 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0007446 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0008066 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0008388 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0200041 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0200097 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0000953 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0000989 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001010 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001056 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001075 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001508 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001802 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001807 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001810 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0003764 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0007589 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0031464 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001249 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001510 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001511 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0002910 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001263 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0031831 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001252 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001344 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001395 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001396 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001397 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0002719 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0011968 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000081 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000126 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000252 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000293 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000311 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000407 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000729 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000819 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000974 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001027 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001250 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001257 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001388 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001399 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001433 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001562 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0006129 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0010648 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0011342 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0100511 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0100633 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0410263 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000164 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000202 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000272 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000286 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000316 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000319 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000322 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000337 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000347 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000365 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000369 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000430 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000445 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000463 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000486 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000494 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000501 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000593 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000627 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0000750 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0001256 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0001263 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0001631 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0001762 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0001773 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0002119 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0002650 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0002714 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0003422 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0004209 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0004279 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0005280 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0005930 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0007676 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0007957 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0008499 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0009918 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0011483 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96125 Distal monosomy 6p HP:0100716 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000194 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000218 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000233 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000269 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000278 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000286 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000343 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000348 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000368 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000445 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000470 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000606 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000664 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000954 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0001249 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0002858 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0004209 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0012368 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0045025 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0100008 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0100242 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000054 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000252 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0000975 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0008070 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0001051 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0001072 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0001217 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0001276 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0001386 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0001433 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0004840 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0005272 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0005359 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0005781 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0006101 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0008066 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0010541 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0010785 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96123 Monosomy 22 HP:0100324 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0000175 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0000276 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0000322 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0000327 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0000368 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0000405 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0000407 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0000574 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0001166 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0001249 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0001250 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0001252 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0001263 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0001537 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0001596 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0001629 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0001704 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0004313 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0005692 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0010511 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0010562 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0010882 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96129 Distal monosomy 19p13.3 HP:0100672 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0031951 ORPHA:98784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0000733 ORPHA:98784 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0002268 ORPHA:98784 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0004305 ORPHA:98784 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0000020 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0000716 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0000739 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0002883 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0011174 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0011182 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0011193 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0025236 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0025237 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0031535 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0031589 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0100543 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0000708 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0001256 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0001345 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0002069 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0007018 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0025235 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000750 ORPHA:96121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000218 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000219 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000248 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000256 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000268 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000278 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000322 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000337 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000347 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000363 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000368 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000455 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000490 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000527 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000689 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000699 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000739 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000752 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000776 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000954 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001256 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001270 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001290 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001310 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001321 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001363 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0004942 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001999 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002011 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002119 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002317 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002342 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0009879 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0009929 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0012450 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000023 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000028 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000200 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000233 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000316 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000348 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000389 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000396 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000565 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000718 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000733 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000735 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000753 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000965 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001250 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001382 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001510 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001513 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001643 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002300 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002307 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002360 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002591 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0004322 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0004768 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0009748 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0010794 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0010864 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0011228 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0011333 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000047 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000122 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000126 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000238 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000311 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000365 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000470 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000483 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000486 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000577 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000767 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000805 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000957 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0000960 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001629 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001631 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001650 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0001763 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002779 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002937 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0002967 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0007772 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0008655 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0008684 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0012795 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0030212 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0045025 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0100716 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96121 7q11.23 microduplication syndrome HP:0100807 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0000975 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0001824 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0002353 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0002380 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0002411 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0003394 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0003552 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0008981 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0010546 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0100288 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0002936 ORPHA:84142 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:84142 Isaacs syndrome HP:0001324 ORPHA:84142 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0001945 ORPHA:228116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0002017 ORPHA:228116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0002092 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0002094 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0002105 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0002204 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0002315 ORPHA:228116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0002516 ORPHA:228116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0002633 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0004936 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0004937 ORPHA:228116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0006543 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0010741 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0012378 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0012735 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0100545 ORPHA:228116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0100576 ORPHA:228116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228116 Hughes-Stovin syndrome HP:0100749 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0020153 ORPHA:228119 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0000246 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0001875 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0001945 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0002090 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0002721 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0011356 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0012203 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0020101 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0001482 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0001818 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0001888 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0002105 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0002113 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0002202 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0003326 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0004377 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0006516 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0025179 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0031245 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0031457 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0032177 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0032252 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0040186 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0100749 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0200034 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0200042 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0000077 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0000479 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0000491 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0001369 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0001392 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0001743 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0002110 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0002586 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0002754 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0008066 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0011450 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0012490 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0025044 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0030049 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0032156 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0032172 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0100537 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0100614 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0100658 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:228119 Fusariosis HP:0410017 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0000003 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0000008 ORPHA:991 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0000035 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0000062 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0000130 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0000252 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0000648 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0000772 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0000776 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0000889 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0001522 ORPHA:991 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0001539 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0001645 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0001679 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0001696 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0001743 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0002084 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0002089 ORPHA:991 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0002269 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0002414 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0002435 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0030680 ORPHA:991 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0004322 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0004383 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0004414 ORPHA:991 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0004971 ORPHA:991 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0008633 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0008678 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0010458 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0011675 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:991 PAGOD syndrome HP:0100555 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0000028 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0000175 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0000316 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0000347 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0000358 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0000476 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0001059 ORPHA:994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0001262 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0001305 ORPHA:994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0001511 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0001561 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0001989 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0002089 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0002093 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0002304 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0002375 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0002650 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0002804 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0002828 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0003700 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0005245 ORPHA:994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0005280 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0010489 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:994 Fetal akinesia deformation sequence HP:0100490 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0000278 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0000486 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0000684 ORPHA:166272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0000703 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0000774 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0000926 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0000944 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0001522 ORPHA:166272 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0001643 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0002007 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0002098 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0002650 ORPHA:166272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0002673 ORPHA:166272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0002983 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0003196 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0003278 ORPHA:166272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0004279 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0004322 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0005280 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0005692 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0006487 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166272 Odontochondrodysplasia HP:0010579 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0000160 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0000171 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0000368 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0000478 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0001274 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0001291 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0001360 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0001561 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0001696 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0002098 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0007360 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0008736 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0009914 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0009924 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0009939 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0011386 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0100596 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0100663 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0100840 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0008278 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0002355 ORPHA:171622 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0001256 ORPHA:171622 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0007361 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0007020 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0002395 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0001328 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0007133 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0002079 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0001761 ORPHA:171622 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0002191 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0002166 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0003487 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000028 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000065 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000158 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000212 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000218 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000237 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000269 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000271 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000278 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000347 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000363 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000448 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000586 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000826 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000857 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001511 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001537 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001562 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001629 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001640 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001804 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001944 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0002123 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0002240 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0002643 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0008897 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001388 ORPHA:96191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001643 ORPHA:96191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0010866 ORPHA:96191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0100767 ORPHA:96191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0000075 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0001090 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0001263 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0001290 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0001561 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0001684 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0002654 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0002751 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0004991 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0006385 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0010593 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0011327 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0100753 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000482 ORPHA:231736 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000556 ORPHA:231736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000567 ORPHA:231736 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000568 ORPHA:231736 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000612 ORPHA:231736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0007968 ORPHA:231736 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0011502 ORPHA:231736 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0002310 ORPHA:494526 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0001260 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0001270 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0002072 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0002307 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0002317 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0002359 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0008936 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0011470 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0011968 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0001337 ORPHA:494526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0100248 ORPHA:494526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0012444 ORPHA:494526 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0000762 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0001288 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0001761 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002141 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002166 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002355 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002460 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002936 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003438 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003477 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003693 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0007010 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0007141 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0008959 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0009027 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0009046 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0009130 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0010830 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0000708 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0001260 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0001315 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0000712 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0001765 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002094 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002136 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002354 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002359 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002938 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003236 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003376 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003394 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003401 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003551 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003691 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003701 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003731 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0006389 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0006886 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0006944 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0007328 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0008994 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0008997 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0009053 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0030051 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63275 Pemphigoid gestationis HP:0000989 ORPHA:63275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63275 Pemphigoid gestationis HP:0001508 ORPHA:63275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63275 Pemphigoid gestationis HP:0001511 ORPHA:63275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63275 Pemphigoid gestationis HP:0001622 ORPHA:63275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63275 Pemphigoid gestationis HP:0008066 ORPHA:63275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63275 Pemphigoid gestationis HP:0200037 ORPHA:63275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0001347 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0002061 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0002064 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0002314 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003393 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003487 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0007020 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0001761 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003392 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003426 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003427 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003457 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0009031 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0009053 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0100561 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0002166 ORPHA:171617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0006892 ORPHA:171617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0009027 ORPHA:171617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0100543 ORPHA:171617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0000020 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0000726 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0001250 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0002921 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0009049 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0012898 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0031177 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0009053 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0008954 ORPHA:63273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0008959 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0009027 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0006389 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0012515 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002141 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0030319 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0003738 ORPHA:63273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002600 ORPHA:63273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002015 ORPHA:63273 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002747 ORPHA:63273 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0001626 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002540 ORPHA:63273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0003474 ORPHA:63273 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0009046 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0030200 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002355 ORPHA:63273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0006135 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0008994 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0001638 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002307 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002359 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0006801 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0007141 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0010544 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0040010 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0004322 ORPHA:251347 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001251 ORPHA:251347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000298 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000514 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000657 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001260 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001272 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001290 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001310 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001315 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001320 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001332 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002066 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002072 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002080 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002198 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002310 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0003438 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0100953 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000617 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000640 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000641 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000750 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000815 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001336 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001388 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001761 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002075 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000160 ORPHA:989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000175 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000218 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000324 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000347 ORPHA:989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000431 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000506 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000668 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001156 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001171 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001231 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001249 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001291 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001522 ORPHA:989 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001543 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0002023 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0002167 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0005235 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0006101 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0006265 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0008872 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0009776 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0009813 ORPHA:989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0009882 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0010295 ORPHA:989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0010669 ORPHA:989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0002991 ORPHA:988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0004322 ORPHA:988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0005048 ORPHA:988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0005772 ORPHA:988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0006443 ORPHA:988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0009601 ORPHA:988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0005162 ORPHA:75249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0030718 ORPHA:75249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0030950 ORPHA:75249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0031295 ORPHA:75249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0031329 ORPHA:75249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0001639 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0001653 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0002094 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0002205 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0002240 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0005110 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0005115 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0005180 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0008897 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0012398 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0012764 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0100598 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0001279 ORPHA:75249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0001297 ORPHA:75249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0001907 ORPHA:75249 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0000268 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0000316 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0000629 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0000703 ORPHA:166277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0001376 ORPHA:166277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0001773 ORPHA:166277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0001863 ORPHA:166277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0002645 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0002756 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0003103 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0004322 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0009824 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0011120 ORPHA:166277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:981 Internal carotid absence HP:0002138 ORPHA:981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:981 Internal carotid absence HP:0002637 ORPHA:981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:981 Internal carotid absence HP:0004944 ORPHA:981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:981 Internal carotid absence HP:0002315 ORPHA:981 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:981 Internal carotid absence HP:0100702 ORPHA:981 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000826 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001252 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001270 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001773 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0008897 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0200055 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000750 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001249 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001382 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001511 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001513 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001518 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001622 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001956 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0004322 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000028 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000160 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000175 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000193 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000218 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000293 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000322 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000347 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000403 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000445 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000463 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0002021 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0002650 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0003124 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0004904 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0005280 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0007010 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0011220 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0011968 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0030084 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000276 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000324 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000347 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000369 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000470 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000545 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0001263 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0001508 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0001511 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0001558 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0001795 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0002546 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0002751 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0002999 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0003070 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0003089 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0003468 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0011968 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0040188 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000851 ORPHA:96183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0007973 ORPHA:96183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001627 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0002092 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0002205 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0003115 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0003546 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0006532 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0012417 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0031983 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0000961 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001510 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001631 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001635 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001636 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001640 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001643 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001649 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001655 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001660 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001671 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0001680 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0002089 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0002094 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0002105 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0002110 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0004749 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0005110 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0006704 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0010741 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0012020 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0012664 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0012764 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0025576 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0031246 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0031664 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0040045 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0100598 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:980 Absence of the pulmonary artery HP:0100749 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0000008 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0000022 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0000037 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0000062 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0000144 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0000271 ORPHA:983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0008633 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0008734 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0008736 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0010468 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:983 Testicular regression syndrome HP:0010469 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55654 Hypotrichosis simplex HP:0045075 ORPHA:55654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55654 Hypotrichosis simplex HP:0000653 ORPHA:55654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55654 Hypotrichosis simplex HP:0001596 ORPHA:55654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55654 Hypotrichosis simplex HP:0002231 ORPHA:55654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55654 Hypotrichosis simplex HP:0002209 ORPHA:55654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55654 Hypotrichosis simplex HP:0008070 ORPHA:55654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000233 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000325 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000356 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000750 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001156 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001159 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001263 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001270 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001508 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001518 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001999 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002020 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002714 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0003162 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0004482 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0008872 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0011220 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0030084 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0100555 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000028 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000047 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000119 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000160 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000201 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000331 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000678 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000691 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000824 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000826 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000855 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000975 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001328 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001476 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001620 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001627 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002007 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002013 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002019 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002650 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002705 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002835 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002870 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0003199 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0003944 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0004209 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0004396 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0008846 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0010782 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0011094 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0012412 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0012523 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0100559 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0100633 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000085 ORPHA:96182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000110 ORPHA:96182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000347 ORPHA:96182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001511 ORPHA:96182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002750 ORPHA:96182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0008897 ORPHA:96182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000023 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000034 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000175 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000204 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000325 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000510 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000512 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000529 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000964 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0001249 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0001511 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0001873 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0002119 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0002721 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0003100 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0005268 ORPHA:96181 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0002194 ORPHA:96181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0002805 ORPHA:96181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0008258 ORPHA:96181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0008665 ORPHA:96181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0030088 ORPHA:96181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000510 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000662 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000707 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000716 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000750 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001123 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000580 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001249 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001251 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001310 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001877 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001927 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0002014 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0002064 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0002495 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0002600 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0002630 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0003146 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0003236 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0003563 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0003707 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0003722 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0004322 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0004325 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0004395 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0004905 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0006785 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0008181 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0008897 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0010831 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0010875 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0011892 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0011900 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0100513 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000011 ORPHA:96180 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000407 ORPHA:96180 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000648 ORPHA:96180 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000873 ORPHA:96180 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0100651 ORPHA:96180 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001258 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001347 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002061 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002355 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0003487 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0009027 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000657 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001249 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001260 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001268 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001272 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001285 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001310 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002075 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002079 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002359 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0006895 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0007325 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0007366 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0007371 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0011096 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0011448 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0100543 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000020 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000298 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000467 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001250 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002120 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002607 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002808 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0005656 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0006879 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0010677 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002454 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0100515 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000602 ORPHA:171629 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000648 ORPHA:171629 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0000164 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0000271 ORPHA:978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0000426 ORPHA:978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0000431 ORPHA:978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0000579 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0000958 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0000963 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0000995 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0001480 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0001596 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0001597 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0001770 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0001803 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0001839 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0002209 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0002213 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0002557 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0002561 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0003187 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0006101 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0006482 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0100797 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0100798 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:978 ADULT syndrome HP:0200042 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0000021 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0000079 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0000485 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0001250 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0001252 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0001397 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0001508 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0002242 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0002750 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0003198 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0003457 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0004322 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0004349 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0007440 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0008207 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:977 Adrenomyodystrophy HP:0011344 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001511 ORPHA:96179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001560 ORPHA:96179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0008897 ORPHA:96179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000821 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001562 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0002643 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0003028 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0004639 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0005781 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000041 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000047 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000083 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000110 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000546 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000824 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001177 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0008209 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001622 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001763 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0002089 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0002652 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0002721 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0004209 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0004880 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0005268 ORPHA:96179 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0008440 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0008689 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001263 ORPHA:96179 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0000238 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0000486 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0000518 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0000568 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0000965 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001057 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001156 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0005916 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001171 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001249 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001250 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001269 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001276 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001362 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001394 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001409 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001508 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001541 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001596 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001622 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001636 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001641 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001804 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001817 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001873 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001882 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0001883 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0002040 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0002084 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0002092 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0002132 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0002239 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0002353 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0002612 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0002814 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0002817 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0004050 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0004935 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0006101 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0006970 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0008065 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0008070 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0009882 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0010624 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0010760 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:974 Adams-Oliver syndrome HP:0100026 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0005916 ORPHA:973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0001799 ORPHA:973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0009778 ORPHA:973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0009988 ORPHA:973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0010049 ORPHA:973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0012379 ORPHA:976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000083 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000093 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000787 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000822 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0001919 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0012622 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0100518 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000010 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000016 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000019 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000791 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0003774 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0005110 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0011848 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0012587 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0030157 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0100520 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0000846 ORPHA:75233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0001263 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0001399 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0001510 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0001541 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0001744 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0001903 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0001945 ORPHA:75233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0002017 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0002040 ORPHA:75233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0002240 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0002570 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0003270 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0004326 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0004333 ORPHA:75233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0004395 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75233 Wolman disease HP:0010512 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001263 ORPHA:96170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000028 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000054 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000135 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000218 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000343 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000347 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000365 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000369 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000384 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000400 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000403 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000486 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000490 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000545 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000582 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000678 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000684 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000692 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000750 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000789 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001195 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001249 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001250 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001290 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001374 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001508 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001510 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001642 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001650 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001660 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002015 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002019 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002020 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002059 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002205 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002562 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002650 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002719 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002751 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0004397 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0004467 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0005815 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0009765 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0011968 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0012802 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0030820 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000023 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000089 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000122 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000175 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000193 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000238 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000252 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000483 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000508 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000540 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000776 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0000960 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001274 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001305 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001511 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001558 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001562 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001622 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001623 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001629 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001631 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0001643 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002023 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002119 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002308 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002500 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0002828 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0003028 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0005401 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0005989 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0009101 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0012714 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96170 Emanuel syndrome HP:0012735 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000252 ORPHA:96176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0001510 ORPHA:96176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0001999 ORPHA:96176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0010864 ORPHA:96176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000047 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000048 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000054 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000062 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000316 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000400 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000431 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000463 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000832 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0002652 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0005280 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0005927 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000218 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000243 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000286 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000322 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000347 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000358 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000470 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000676 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000717 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000957 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0001000 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0001290 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0001596 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0002007 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0002023 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0002323 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0009601 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0011301 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0012211 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0030032 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0100779 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0000479 ORPHA:96176 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0001274 ORPHA:96176 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0003256 ORPHA:96176 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0005233 ORPHA:96176 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96176 Ring chromosome 13 syndrome HP:0009919 ORPHA:96176 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0002072 ORPHA:494541 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0010994 ORPHA:494541 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0031206 ORPHA:494541 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0000739 ORPHA:494541 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0002548 ORPHA:494541 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0000726 ORPHA:494541 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0002194 ORPHA:494541 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0000982 ORPHA:158668 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0001030 ORPHA:158668 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0008404 ORPHA:158668 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0000966 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0001508 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0002289 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0002355 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0008070 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0040181 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0040189 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0000164 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0000670 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0000989 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0001581 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0002028 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0004322 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0005218 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0006482 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0006532 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0007502 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0008066 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0012227 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0030809 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0100699 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0100806 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0100825 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000028 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000280 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000294 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000350 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000666 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001131 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0007957 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0008707 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0008729 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0011229 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0045075 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000047 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000343 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000369 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000463 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000478 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000486 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000505 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000557 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000664 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001007 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001097 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001305 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001320 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002136 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002172 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002342 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002465 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0005280 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0010864 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0011343 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0011344 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0011825 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0012110 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000064 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000107 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000252 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000347 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000455 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000470 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000527 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000609 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000718 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001321 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001350 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001545 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002000 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002020 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0006610 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0007018 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0025405 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0040171 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0000577 ORPHA:440727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0000618 ORPHA:440727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0000579 ORPHA:440727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0007663 ORPHA:440727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0007773 ORPHA:440727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0012795 ORPHA:440727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0012841 ORPHA:440727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000028 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000047 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000073 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000075 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000076 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000126 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000164 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000175 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000189 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000232 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000252 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000276 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000280 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000286 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000337 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000348 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000396 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000411 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000414 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000426 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000430 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000431 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000486 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000508 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000518 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000581 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000582 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000668 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000682 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000691 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000767 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000821 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0000958 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0001166 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0001249 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0001250 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0001252 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0001263 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0001611 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0001647 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0001671 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0002021 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0002119 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0002465 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0002650 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0002705 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0002808 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0002827 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0002948 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0003422 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0004322 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0005599 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0005692 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0007370 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0008064 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0008499 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0008872 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0009928 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0010719 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96169 Koolen-De Vries syndrome HP:0100025 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001256 ORPHA:96168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001263 ORPHA:96168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001510 ORPHA:96168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001513 ORPHA:96168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001999 ORPHA:96168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000252 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000316 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000337 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000426 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000448 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000455 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000494 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0003256 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000286 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000347 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000358 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000363 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000421 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0000855 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001397 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001642 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001763 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0002573 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0003645 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0008151 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0010945 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0011228 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0011565 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0100608 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001162 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001274 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0001830 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0003072 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0032152 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96168 Monosomy 13q34 HP:0040188 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000028 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000046 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000050 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000077 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000164 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000175 ORPHA:96167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000190 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000204 ORPHA:96167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000212 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000316 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000347 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000356 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000365 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000369 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000389 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000463 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000464 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000478 ORPHA:96167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000504 ORPHA:96167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000766 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0000767 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001249 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001250 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001257 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001263 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001582 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001595 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001629 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001631 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001636 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001643 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001869 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0001999 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0002162 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0030680 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0002650 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0002714 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0004209 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0004378 ORPHA:96167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0004415 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0005280 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0006443 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0007598 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0012471 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0100490 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96167 Recombinant 8 syndrome HP:0100729 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002314 ORPHA:171612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0007020 ORPHA:171612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0001347 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002061 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002166 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0003487 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0007340 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0100561 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0000012 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002064 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002169 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002355 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0003394 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0007350 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0001761 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0012378 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0001250 ORPHA:171612 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002921 ORPHA:171612 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0003457 ORPHA:171612 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0012898 ORPHA:171612 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0000078 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0000104 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0000160 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0000202 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0000238 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0000369 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0000476 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0000776 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0001305 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0001339 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0001360 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0001539 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0001543 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0001561 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0001762 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0001838 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0002023 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0002084 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0002247 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0002323 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0002414 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0002475 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0030680 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0002804 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0003307 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0003396 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0008465 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0008905 ORPHA:63259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0009939 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0010301 ORPHA:63259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63259 Iniencephaly HP:0012294 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0000407 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0000470 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0000824 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0003423 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0004322 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0008213 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0008245 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0010627 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0011748 ORPHA:231720 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0012287 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171607 X-linked spastic paraplegia type 34 HP:0001347 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171607 X-linked spastic paraplegia type 34 HP:0001348 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171607 X-linked spastic paraplegia type 34 HP:0002061 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171607 X-linked spastic paraplegia type 34 HP:0002166 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171607 X-linked spastic paraplegia type 34 HP:0002362 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171607 X-linked spastic paraplegia type 34 HP:0003487 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171607 X-linked spastic paraplegia type 34 HP:0011448 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171607 X-linked spastic paraplegia type 34 HP:0012514 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000474 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000708 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000709 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000710 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000711 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000718 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000719 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000723 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000733 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000734 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000737 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000741 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000751 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000757 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0001268 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0001288 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0001347 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002069 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002071 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002145 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002300 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002354 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002381 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002371 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002380 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002442 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002446 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002465 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002493 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002500 ORPHA:275864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0006892 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0010522 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0010526 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0010529 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0011204 ORPHA:275864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0030212 ORPHA:275864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0030213 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0030223 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0012658 ORPHA:275864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0012671 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0000218 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0003458 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0003722 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0003798 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0006466 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0009005 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0009027 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0009063 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0009077 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0012036 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0001533 ORPHA:399103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0002875 ORPHA:399103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0009073 ORPHA:399103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0012548 ORPHA:399103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0030319 ORPHA:399103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:399103 Distal nebulin myopathy HP:0001638 ORPHA:399103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63260 Craniorachischisis HP:0000776 ORPHA:63260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63260 Craniorachischisis HP:0001539 ORPHA:63260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63260 Craniorachischisis HP:0002023 ORPHA:63260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63260 Craniorachischisis HP:0002323 ORPHA:63260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63260 Craniorachischisis HP:0002475 ORPHA:63260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63260 Craniorachischisis HP:0005857 ORPHA:63260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63260 Craniorachischisis HP:0010301 ORPHA:63260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63260 Craniorachischisis HP:0010309 ORPHA:63260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63260 Craniorachischisis HP:0010497 ORPHA:63260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000023 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000252 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000331 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000341 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000407 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000446 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000496 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000711 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000737 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001250 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001257 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001276 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001371 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001508 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002079 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002187 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002650 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0003196 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0010845 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0011185 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0011471 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0011800 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0011968 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0025373 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0025405 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0100704 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0200134 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000518 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000668 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001182 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001272 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001290 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001382 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001385 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001999 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002069 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002098 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002164 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002750 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0005072 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0006070 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0006094 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0007514 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0012098 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0012448 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0012469 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0040126 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0100806 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0000252 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0000366 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0000407 ORPHA:999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0000483 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0000613 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0000639 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0001053 ORPHA:999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0001107 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0001252 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0001256 ORPHA:999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0001770 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0004209 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0004322 ORPHA:999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0005599 ORPHA:999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0007400 ORPHA:999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:999 Ermine phenotype HP:0007730 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:998 Albinism-deafness syndrome HP:0000407 ORPHA:998 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:998 Albinism-deafness syndrome HP:0001053 ORPHA:998 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:998 Albinism-deafness syndrome HP:0001100 ORPHA:998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:998 Albinism-deafness syndrome HP:0002167 ORPHA:998 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:998 Albinism-deafness syndrome HP:0007400 ORPHA:998 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:998 Albinism-deafness syndrome HP:0007443 ORPHA:998 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:998 Albinism-deafness syndrome HP:0007544 ORPHA:998 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0000952 ORPHA:75234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0000989 ORPHA:75234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0001394 ORPHA:75234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0001399 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0001744 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0002014 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0002017 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0002040 ORPHA:75234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0002155 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0002240 ORPHA:75234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0002634 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0003124 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75234 Cholesteryl ester storage disease HP:0010512 ORPHA:75234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0000750 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0001284 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0001290 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0003202 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0003324 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0003390 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0003557 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0006829 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0009830 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0010994 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0011343 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0000737 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0001308 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002093 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002098 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002151 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002375 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002376 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002490 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0003542 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0004305 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0009025 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0008872 ORPHA:238329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0003462 ORPHA:401973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0003465 ORPHA:401973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000028 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000218 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000238 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000260 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000316 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000347 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000369 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000422 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000426 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000472 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000474 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000506 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000518 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000568 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000582 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000960 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0001161 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0001249 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0001250 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0001263 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0001290 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0001305 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0001508 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0001650 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0001845 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0002079 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0002509 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0002808 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0004322 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0004691 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0005590 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0006958 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0008064 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0009941 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0010055 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0010557 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0011800 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0012433 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0100807 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000175 ORPHA:401973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000718 ORPHA:401973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0000752 ORPHA:401973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401973 MEND syndrome HP:0001627 ORPHA:401973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000736 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000737 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000739 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000741 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000751 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001250 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001289 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001324 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001336 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001337 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001350 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002066 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002067 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002073 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002283 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002312 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002401 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002446 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0012332 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002464 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002529 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0003487 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0005327 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0006943 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007009 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007017 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007158 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007183 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007256 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0010846 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0011099 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0012672 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0025152 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0100256 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0100785 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0100786 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000738 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000746 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002072 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002922 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007686 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0010542 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0100292 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0100661 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000504 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000605 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000639 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000712 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000716 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000726 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0000988 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0001386 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0001701 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0001744 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0001945 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002027 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002202 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002240 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002716 ORPHA:85414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002829 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002960 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0003565 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0005681 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0011227 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0012122 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0005227 ORPHA:261584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000160 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000215 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000218 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000276 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000303 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000316 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000343 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000348 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000455 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000494 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0001256 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0001891 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0002234 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0002584 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0004482 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0004783 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0007649 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0010522 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0011078 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0200040 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000347 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000470 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000954 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0001115 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0001290 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0002064 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0002162 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0003003 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0006536 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0007766 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0100245 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000077 ORPHA:261584 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0002884 ORPHA:261584 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0100246 ORPHA:261584 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001260 ORPHA:508093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001332 ORPHA:508093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0031206 ORPHA:508093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001336 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001508 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0002015 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0002059 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0002072 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0002315 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0002530 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0008314 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0008347 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0011923 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0011968 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0012707 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0025312 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0032005 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0000639 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0000648 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001270 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001288 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0002451 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0007663 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0012179 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0100660 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0000649 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001251 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001252 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001257 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001272 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508093 MEPAN syndrome HP:0001324 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0003493 ORPHA:85410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0040313 ORPHA:85410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0000554 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0001382 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0001508 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0002960 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0003028 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0003565 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0005086 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0030356 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0030782 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0000572 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0000585 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0001370 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0007663 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0007833 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0008850 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0000501 ORPHA:85410 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0000518 ORPHA:85410 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000590 ORPHA:329336 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003546 ORPHA:329336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003690 ORPHA:329336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000218 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000365 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0001260 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0001488 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002015 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002522 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002747 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003202 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003326 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003551 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003738 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0011968 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0030196 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0030319 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000565 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000580 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0001638 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002076 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002141 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002361 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002406 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002549 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002650 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003133 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003722 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0005150 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002505 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0007141 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0007256 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000098 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000179 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000219 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000256 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000267 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000337 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000343 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000365 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000455 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000486 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000494 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000609 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000729 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000766 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000768 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001256 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001520 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001548 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001641 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001642 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001999 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0030680 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0005616 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0008058 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0011098 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0012741 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0030680 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000707 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000924 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001249 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001250 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001263 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002521 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0008947 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000252 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000478 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000951 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001155 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001272 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001531 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001999 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002086 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002500 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002540 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002650 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002715 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002910 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0004322 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0008936 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0010864 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0011968 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0012345 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0012348 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0012363 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0012448 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0012469 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0025053 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0040288 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0045060 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0100704 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000407 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000474 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000486 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000577 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000826 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001010 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001285 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001363 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001511 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001627 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001762 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001840 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002059 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002079 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002673 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0003121 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0003186 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0007366 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0007704 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0011185 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0011314 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0012762 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0012803 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0200012 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0000938 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001305 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001382 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0001636 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002020 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002418 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002539 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0002925 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0005736 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0006956 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0008695 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0012210 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0025484 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0025517 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0030043 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:356961 SLC35A2-CDG HP:0100490 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0001250 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0002354 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0002902 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0002922 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0011185 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0012756 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0020071 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0031885 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0100806 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0200149 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0000708 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0000709 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0000716 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0000739 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0001251 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0001289 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0001332 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0001336 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0011203 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0012332 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0025100 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0100022 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163921 Posttransplant acute limbic encephalitis HP:0100543 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0000316 ORPHA:3023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0000365 ORPHA:3023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0000413 ORPHA:3023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0000486 ORPHA:3023 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0004209 ORPHA:3023 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0007598 ORPHA:3023 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002127 ORPHA:275872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002145 ORPHA:275872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002366 ORPHA:275872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000708 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000716 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000738 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000741 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0001260 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0001300 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002015 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002071 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002073 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002171 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002186 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002273 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002314 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002385 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002442 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002460 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0003700 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0003701 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0007190 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0010549 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000605 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000734 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0001265 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0001283 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002283 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002300 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002380 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0003487 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0008322 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0008619 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0030223 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000508 ORPHA:275872 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000028 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000062 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000069 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000073 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000076 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000083 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000086 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000104 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000202 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000822 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0000921 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0001315 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0001387 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0001762 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0002023 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0002089 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0002139 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0002308 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0030680 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0002607 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0002644 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0002650 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0003199 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0005640 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0008479 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0008517 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0009800 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0011867 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3027 Caudal regression syndrome HP:0100710 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0009027 ORPHA:59135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0011916 ORPHA:59135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0000218 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0000467 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0001288 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0001430 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0002460 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0002650 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0003323 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0003326 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0003789 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0003803 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0004696 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0008180 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0008316 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0012507 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0001644 ORPHA:59135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0003458 ORPHA:59135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0008994 ORPHA:59135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59135 Laing early-onset distal myopathy HP:0003805 ORPHA:59135 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001999 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0011911 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0011800 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001363 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000248 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000262 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001760 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001155 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001166 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0030084 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0012385 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001440 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0009701 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003019 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001838 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001883 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002974 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003041 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0005892 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008368 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000062 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000811 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000055 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0040253 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0025486 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000032 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000047 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000054 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003154 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008163 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031074 ORPHA:95699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031213 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031216 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031187 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031215 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0030349 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031083 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000822 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000028 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000786 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008675 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000823 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000798 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000144 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001007 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000924 ORPHA:95699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003070 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001377 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002987 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0006487 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002980 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0011302 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001371 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001762 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000772 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003468 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000882 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002650 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000774 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003275 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0006439 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003049 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001519 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0005913 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002967 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0010049 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0006118 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002007 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000260 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000452 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000453 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000414 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003196 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0005280 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000160 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002705 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000377 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000369 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000402 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000405 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000238 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000079 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0010946 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000076 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000122 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002020 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002019 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001545 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0011403 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002308 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0007466 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000750 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0010862 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003826 ORPHA:95699 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000927 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0009738 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000363 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001376 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001156 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0032362 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0011969 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008232 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008214 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031100 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008221 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031065 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000147 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000175 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000201 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000252 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000316 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000430 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001156 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001256 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001263 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0002263 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0011341 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0012745 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000171 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000232 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000365 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000385 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000414 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000426 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000506 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000568 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000639 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000664 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000677 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000957 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000996 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001252 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001508 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001511 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001562 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001792 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0002000 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0003196 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0005487 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0006289 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0007957 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0009246 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0010752 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0010804 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0011078 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0011401 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0012370 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0030680 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0045074 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0100380 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001369 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001386 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001387 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001785 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0002829 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003019 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003565 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0005086 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0005186 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0100686 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0100769 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0000554 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001155 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001371 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001384 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001530 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001824 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001832 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001903 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0002716 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003043 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003319 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003326 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003493 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0008843 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0010754 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0011134 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0011911 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0040313 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001094 ORPHA:85408 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001433 ORPHA:85408 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0001263 ORPHA:401986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0002119 ORPHA:401986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0007370 ORPHA:401986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0000079 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0000256 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0000722 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0001249 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0001250 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0001252 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0002007 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0002144 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0007018 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0007099 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0030746 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0000965 ORPHA:401986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0001363 ORPHA:401986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0007906 ORPHA:401986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401986 1p31p32 microdeletion syndrome HP:0011834 ORPHA:401986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0000194 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0000252 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0000272 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0000298 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0000508 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0000729 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0000742 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0000750 ORPHA:52503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0001249 ORPHA:52503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0001250 ORPHA:52503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0001251 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0001252 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0001263 ORPHA:52503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0001276 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0001332 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0002019 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0002072 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0000752 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0001582 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0002251 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0002305 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0002595 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0004322 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0004326 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0005692 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52503 X-linked creatine transporter deficiency HP:0012113 ORPHA:52503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0001216 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0002353 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0008947 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0011344 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0012450 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0200000 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0000028 ORPHA:3010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0001182 ORPHA:3010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0001250 ORPHA:3010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0002719 ORPHA:3010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0000194 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0000289 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0000316 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0000426 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0000473 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0000486 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0000685 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0000767 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0001792 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0002307 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0002705 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0003270 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3010 Qazi-Markouizos syndrome HP:0007477 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000293 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000687 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000750 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001249 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001250 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0010803 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0430028 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000168 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000280 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000347 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000463 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001252 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001508 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002069 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002121 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0005274 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0005280 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0005338 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0007800 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0008872 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0010800 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0011342 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0011344 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0025336 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0031936 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0410263 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000175 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000252 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000403 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000486 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000540 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000545 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000646 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000729 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000733 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001302 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001321 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001344 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001385 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001629 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001761 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001840 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002019 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002020 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002066 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002079 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002119 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002136 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002373 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002779 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0005750 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0006808 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0006897 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0008762 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0010740 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0011471 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0011842 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0012020 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0012172 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0012683 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0025186 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0040115 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001250 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001257 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001332 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001336 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001338 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002015 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002020 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002119 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002120 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002650 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0007096 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0008936 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0011344 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0011451 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0011471 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0012110 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0030890 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0100704 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0000011 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0000648 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001274 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001561 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001605 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002376 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002490 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002521 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0005484 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0011097 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0012796 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0030043 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0000298 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0000741 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0001260 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0001300 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002063 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002067 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002120 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002167 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002172 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002322 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002362 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002425 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002527 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002987 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0004673 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0007034 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0007311 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0007975 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0011121 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0012157 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0000020 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0000750 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0001252 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0001263 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0001302 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0001315 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0002069 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0000316 ORPHA:329329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0000506 ORPHA:329329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0000565 ORPHA:329329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0001250 ORPHA:329329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0000169 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0000189 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0000293 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0000405 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0000407 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0000593 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0000682 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0000684 ORPHA:3019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0000819 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0000962 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0001249 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0001250 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0001508 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0002230 ORPHA:3019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0002797 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0007703 ORPHA:3019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3019 Ramon syndrome HP:0100585 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001332 ORPHA:352596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001336 ORPHA:352596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002788 ORPHA:352596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0007256 ORPHA:352596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0000252 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001326 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002123 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002133 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002188 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002376 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0008935 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0011968 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0200134 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001263 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001269 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002071 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001262 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002301 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002506 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0025152 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0100275 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0000648 ORPHA:352596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000233 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000293 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000311 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000414 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000750 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001250 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001270 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002003 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002015 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002164 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002999 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0008936 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0010864 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0011822 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0200005 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000160 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000252 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000421 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000483 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000486 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000506 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000708 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001357 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001762 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002019 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002099 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002540 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002553 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0003065 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0005487 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0006471 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0010665 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000028 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000046 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000054 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000077 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000248 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000369 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000377 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000445 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000465 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000470 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000954 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001009 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001285 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001643 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002188 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002518 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0006443 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0006855 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0010720 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0011825 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0100633 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163934 Atopic keratoconjunctivitis HP:0000491 ORPHA:163934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163934 Atopic keratoconjunctivitis HP:0000958 ORPHA:163934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163934 Atopic keratoconjunctivitis HP:0001097 ORPHA:163934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163934 Atopic keratoconjunctivitis HP:0007957 ORPHA:163934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163934 Atopic keratoconjunctivitis HP:0000492 ORPHA:163934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163934 Atopic keratoconjunctivitis HP:0000498 ORPHA:163934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163934 Atopic keratoconjunctivitis HP:0011457 ORPHA:163934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163934 Atopic keratoconjunctivitis HP:0011496 ORPHA:163934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163934 Atopic keratoconjunctivitis HP:0012375 ORPHA:163934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0000510 ORPHA:3011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0001141 ORPHA:3011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0002187 ORPHA:3011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0002376 ORPHA:3011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0008610 ORPHA:3011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0000003 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0000104 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0000110 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0000278 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0000347 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0000444 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0000470 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0000772 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0001156 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0002094 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0002098 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0002202 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0002705 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0002714 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0002878 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0002983 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0002984 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0003312 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0003510 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0004279 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0005280 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0008678 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0009811 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3015 Radio-renal syndrome HP:0010310 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0000238 ORPHA:3016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0001562 ORPHA:3016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0002984 ORPHA:3016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0012165 ORPHA:3016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0100257 ORPHA:3016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0000143 ORPHA:3016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0002023 ORPHA:3016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0004871 ORPHA:3016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0025023 ORPHA:3016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000316 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001250 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001263 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0003155 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0006118 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0008947 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000431 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000637 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001249 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001510 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001999 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002069 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002714 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0010804 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000126 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000193 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000218 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000248 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000280 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000286 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000289 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000303 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000311 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000322 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000347 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000378 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000391 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000414 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000426 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000470 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000540 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000565 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000582 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000594 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000657 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000729 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000767 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001009 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001195 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001251 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001288 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001315 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001336 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001357 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001385 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001545 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001562 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001792 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002251 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002342 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002392 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002553 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002558 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002650 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002696 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0006808 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0010850 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0010864 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0011471 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0030084 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0040194 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0040195 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0000712 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0001276 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0001288 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0001332 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0002067 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0002071 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0002172 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0002174 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0002315 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0002354 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0002396 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0002453 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0003287 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0006979 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0025464 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0000505 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0000718 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0000722 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0000746 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0000748 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0000802 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0001289 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0002304 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0030018 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0040306 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0000716 ORPHA:306682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0000737 ORPHA:306682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0000738 ORPHA:306682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0030214 ORPHA:306682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306682 Manganese poisoning HP:0031466 ORPHA:306682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0000708 ORPHA:306686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0002354 ORPHA:306686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0002518 ORPHA:306686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0012706 ORPHA:306686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0012708 ORPHA:306686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0002063 ORPHA:306686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0002067 ORPHA:306686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0002817 ORPHA:306686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0004673 ORPHA:306686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002151 ORPHA:3008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0003128 ORPHA:3008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0032653 ORPHA:3008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001250 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001508 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001510 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001942 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001987 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002161 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002490 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0003348 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0003542 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0003648 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0008358 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0011966 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0012644 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0012706 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0012707 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0012708 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0012758 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0500149 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0410175 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0500147 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0500181 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0500198 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0500200 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0500231 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0500233 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0500246 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0000639 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0000722 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0000741 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0000817 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001249 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001251 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001252 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001262 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001274 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001290 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001332 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001337 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001943 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001944 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002013 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002039 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002119 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002240 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002416 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002465 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002789 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0002793 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0003074 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0003228 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0003265 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0003429 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0006999 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0007109 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0007256 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0011169 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0012448 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0012469 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0012698 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0012762 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0025160 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0025336 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0030051 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0030890 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0100660 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0001259 ORPHA:3008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3008 Pyruvate carboxylase deficiency HP:0100023 ORPHA:3008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000590 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0001488 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0002015 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003325 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003390 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003797 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0007340 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0008615 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000486 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000518 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000648 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000716 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000726 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0001251 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0001618 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003326 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003394 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003558 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003749 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0025406 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0100543 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0000040 ORPHA:3000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0000053 ORPHA:3000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0000098 ORPHA:3000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0000708 ORPHA:3000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0000798 ORPHA:3000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0000826 ORPHA:3000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0001061 ORPHA:3000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0001595 ORPHA:3000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0003251 ORPHA:3000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0005616 ORPHA:3000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3000 Familial male-limited precocious puberty HP:0007018 ORPHA:3000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3002 Immune thrombocytopenia HP:0001873 ORPHA:3002 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3002 Immune thrombocytopenia HP:0001907 ORPHA:3002 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3002 Immune thrombocytopenia HP:0000967 ORPHA:3002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3002 Immune thrombocytopenia HP:0000979 ORPHA:3002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3002 Immune thrombocytopenia HP:0004420 ORPHA:3002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3002 Immune thrombocytopenia HP:0000225 ORPHA:3002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3002 Immune thrombocytopenia HP:0000421 ORPHA:3002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3002 Immune thrombocytopenia HP:0000978 ORPHA:3002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3002 Immune thrombocytopenia HP:0002239 ORPHA:3002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3002 Immune thrombocytopenia HP:0001342 ORPHA:3002 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0000369 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0000457 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0000465 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0000773 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0000888 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0002694 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0002983 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0003026 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0003175 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0003270 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0004493 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0008817 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0010306 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0011338 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0011867 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0012790 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0030290 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0040194 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0100540 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0100625 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0100748 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0100856 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3003 Pyknoachondrogenesis HP:0100866 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0001171 ORPHA:3004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0001829 ORPHA:3004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0002247 ORPHA:3004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0003422 ORPHA:3004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0004322 ORPHA:3004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0005359 ORPHA:3004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0009829 ORPHA:3004 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0003128 ORPHA:3006 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0001250 ORPHA:3006 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0000737 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0001557 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002079 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002133 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002643 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0007359 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0010845 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0010851 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011152 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011968 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0012758 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0020217 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0025116 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0030917 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0000273 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0000496 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0000711 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0001249 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002119 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002188 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002280 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002521 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0010819 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0010841 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011097 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011166 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011198 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011199 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0012420 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0012444 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0012704 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0012768 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3006 Pyridoxine-dependent epilepsy HP:0001943 ORPHA:3006 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000738 ORPHA:513436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0007153 ORPHA:513436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0003202 ORPHA:513436 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000486 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0001260 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0001272 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0001347 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002073 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002120 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002355 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0003477 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0003482 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0003487 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0007020 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0007240 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0100543 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000011 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000605 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000666 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0001332 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002079 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002478 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002518 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0003390 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0007256 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0001761 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000317 ORPHA:513436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000726 ORPHA:513436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000003 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000075 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000076 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000125 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000126 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000212 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000316 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000478 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000480 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000482 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000483 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000486 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000505 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000508 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000518 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000539 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000545 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000568 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000612 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000615 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000648 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000678 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000684 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000692 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000767 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000768 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000932 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001089 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001159 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001166 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001181 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001347 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001371 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001492 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001636 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001641 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001642 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001647 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001650 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001680 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001746 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001763 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001822 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001847 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001848 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002007 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002019 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002021 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002540 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002572 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002650 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002719 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002750 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002857 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0003763 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0004313 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0004414 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0006482 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007048 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007328 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0009487 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0009918 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0010055 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0010511 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0011451 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0012385 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0012430 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0030791 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0040331 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000034 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000041 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000048 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000054 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000175 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000193 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000286 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000407 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001153 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001320 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001321 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001629 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001643 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002015 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002126 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002335 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002465 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002553 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002777 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0004961 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0005580 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007099 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007165 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001249 ORPHA:261552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001344 ORPHA:261552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001999 ORPHA:261552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002474 ORPHA:261552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0040082 ORPHA:261552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000020 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000028 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000047 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000119 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000179 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000194 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000303 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000307 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000322 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000358 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000403 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000431 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000437 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000444 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000490 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000506 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000707 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000733 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001250 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001257 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001273 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001274 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001508 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001627 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002079 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002136 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002251 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002353 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002360 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002607 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0004322 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0005484 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0006956 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007010 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007270 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007359 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0008947 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0009765 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0009909 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0011229 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0025100 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0030303 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0031936 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0011120 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0011317 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0011886 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0012081 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0030264 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0410005 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0410031 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0004910 ORPHA:47159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0004918 ORPHA:47159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0001508 ORPHA:47159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0001510 ORPHA:47159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0002013 ORPHA:47159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0002900 ORPHA:47159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0003646 ORPHA:47159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0000478 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0000501 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0000518 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0000585 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0000787 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0000924 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0001249 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0001530 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0001944 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0001959 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0002014 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0002024 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0002150 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0003076 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0003109 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0003126 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0003149 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0003355 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0004349 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0006285 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0011106 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0012573 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0012605 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0000121 ORPHA:47159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0000589 ORPHA:47159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0001682 ORPHA:47159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:47159 Proximal renal tubular acidosis HP:0004322 ORPHA:47159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000023 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000154 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000248 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000252 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000272 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000280 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000286 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000307 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000325 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000343 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000348 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000431 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000448 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000486 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000574 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001156 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001256 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001511 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001537 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001631 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001633 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001800 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001802 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001804 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001817 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001857 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0002007 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0002086 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0002230 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0002750 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0004209 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0004322 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0004422 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0008398 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0009773 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0009890 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0100797 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0100798 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007020 ORPHA:329308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002478 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002493 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007153 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007325 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007240 ORPHA:329308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0001260 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002015 ORPHA:329308 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000648 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007924 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0001123 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0030584 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000486 ORPHA:329308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000666 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000605 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007359 ORPHA:329308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0001272 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0006855 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0006827 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002079 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0001268 ORPHA:329308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002505 ORPHA:329308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002527 ORPHA:329308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007199 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002505 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002425 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002427 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0009830 ORPHA:329308 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002069 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000739 ORPHA:329308 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000716 ORPHA:329308 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007302 ORPHA:329308 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000514 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000605 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000726 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001300 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0002063 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0002395 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0003487 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0007256 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0007350 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000020 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000183 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000338 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000736 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001167 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001254 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001289 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001336 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0002120 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0002355 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0002367 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0002425 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0008969 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0010553 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0011446 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0012378 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0100660 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000511 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000639 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000643 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000658 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0000741 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001260 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001268 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001276 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001288 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001760 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0001945 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0002015 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0002067 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0002493 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0002607 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0003324 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0007083 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0025403 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306674 Kufor-Rakeb syndrome HP:0031008 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000951 ORPHA:35173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0010655 ORPHA:35173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000324 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000518 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000929 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001019 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002007 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0004322 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0004468 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0005280 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0006619 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0008064 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0025474 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0040189 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0100559 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0100560 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0100569 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000218 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000316 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000369 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000482 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000494 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000568 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000653 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001197 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001371 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001597 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001762 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001998 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002088 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002208 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002232 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002751 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002827 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002999 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0004552 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0005756 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0008434 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0008443 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0008850 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0010720 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0045075 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000126 ORPHA:35173 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000377 ORPHA:35173 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000407 ORPHA:35173 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0100702 ORPHA:35173 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000193 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000248 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000252 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000303 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000307 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000316 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000327 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000348 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000455 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000470 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000486 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000506 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000520 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000607 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000664 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000670 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000767 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000808 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0002342 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0002553 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0002679 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0002684 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0002714 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0005280 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0008516 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0009748 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0009907 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0010299 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0010724 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0010749 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0011072 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0012368 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0100334 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000309 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000233 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000322 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000410 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000494 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0001363 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0003319 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0003423 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0006480 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000071 ORPHA:1299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000625 ORPHA:1299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0001250 ORPHA:1299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000042 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0001537 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0001545 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0002561 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0002836 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0009814 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0009818 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000054 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000164 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1299 Branchioskeletogenital syndrome HP:0000176 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000003 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000104 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000126 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000202 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000218 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000232 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000268 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000368 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000377 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000405 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000431 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000455 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000482 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000486 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000508 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000518 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000579 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000582 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000589 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000612 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000691 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0000987 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0001028 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0001177 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0001511 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0001611 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0002002 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0002167 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0002216 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0004322 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0004464 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0004467 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0008606 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0009804 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0100268 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0100335 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1297 Branchio-oculo-facial syndrome HP:0100798 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0001513 ORPHA:179494 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0003292 ORPHA:179494 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000771 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000786 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000815 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000842 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0002591 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0005407 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0005419 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0008187 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0008214 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0040171 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0008724 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0008734 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000712 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000831 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0002155 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0002788 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0004926 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0005616 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0008245 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0000023 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0000047 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0000154 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0000272 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0000384 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0000952 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0001249 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0001252 ORPHA:1296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0001396 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0001511 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0001531 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0001629 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0004313 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0005248 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0007360 ORPHA:1296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1296 Lambert syndrome HP:0009794 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0000971 ORPHA:247257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0001945 ORPHA:247257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0011159 ORPHA:247257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0012378 ORPHA:247257 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0001289 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0002013 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0002094 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0002098 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0002546 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0002615 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0011029 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247257 Inhalational anthrax HP:0100806 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000044 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000048 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000219 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000316 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000337 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000458 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000506 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000664 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0001053 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0001156 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0005916 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0001387 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0002857 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0003196 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0005288 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0008736 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0009882 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0010624 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0010669 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001284 ORPHA:98771 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001324 ORPHA:98771 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0002066 ORPHA:98771 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0003474 ORPHA:98771 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0000365 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001260 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001310 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001761 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0002395 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0002600 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0007141 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0010546 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0000639 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001272 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0002346 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0003202 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0003477 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98771 Spinocerebellar ataxia type 18 HP:0030187 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001251 ORPHA:98772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002355 ORPHA:98772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0000020 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001265 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001272 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001347 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002070 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002078 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002172 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0006938 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0000602 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0000639 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0000651 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001260 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001350 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002136 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002370 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002396 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0007772 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0002066 ORPHA:98773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0002071 ORPHA:98773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0002073 ORPHA:98773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0007944 ORPHA:98773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0000639 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0000708 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0001249 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0001260 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0001337 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0002063 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0002304 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0006855 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0010526 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0100543 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98773 Spinocerebellar ataxia type 21 HP:0000651 ORPHA:98773 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86788 X-linked severe congenital neutropenia HP:0001875 ORPHA:86788 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86788 X-linked severe congenital neutropenia HP:0002718 ORPHA:86788 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86788 X-linked severe congenital neutropenia HP:0012312 ORPHA:86788 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0010904 ORPHA:51208 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0012335 ORPHA:51208 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0012379 ORPHA:51208 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0032164 ORPHA:51208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0500170 ORPHA:51208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0000750 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0001889 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0001903 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0010864 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0011342 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0012758 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0000717 ORPHA:51208 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51208 Formiminoglutamic aciduria HP:0001631 ORPHA:51208 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0008245 ORPHA:226307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0031098 ORPHA:226307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0031219 ORPHA:226307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000158 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000270 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000282 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000871 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001254 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001265 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001510 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001537 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001662 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0002019 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0002045 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0004491 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0005930 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0005990 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0006579 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0008202 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0008828 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0008872 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0010627 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0012378 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0012758 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0031507 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0040075 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000044 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000407 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000470 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000609 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000824 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000839 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001161 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001252 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001274 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001317 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001943 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001999 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0002920 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0004637 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0005280 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0009381 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0011220 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0011755 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0011800 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0025502 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0030341 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0030344 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0031218 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0025483 ORPHA:226307 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000238 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000369 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000567 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001249 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001250 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001263 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001320 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002119 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002363 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002538 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002876 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0005949 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0008947 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0011968 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0040288 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000278 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000316 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000347 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000358 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001284 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001305 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002007 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002015 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002033 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002245 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002335 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0003196 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0005815 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0007738 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0007965 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0009928 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001649 ORPHA:137675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0004755 ORPHA:137675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0004756 ORPHA:137675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0000961 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0000980 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001508 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001635 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001640 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001678 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001716 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001945 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0002013 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0002240 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0002329 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0002401 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0002789 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0003546 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0011712 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0011716 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0012735 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0000107 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0000147 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0000175 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0000238 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0000485 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0000568 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0000648 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001250 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001254 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001274 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001629 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001907 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0001943 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0002301 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0002438 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0003128 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0004749 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0005110 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0005165 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0005950 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0007185 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0007707 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0007957 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137675 Histiocytoid cardiomyopathy HP:0100598 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000154 ORPHA:163966 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000238 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000322 ORPHA:163966 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000347 ORPHA:163966 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000369 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000457 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000568 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000883 ORPHA:163966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000926 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000962 ORPHA:163966 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0001256 ORPHA:163966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0001321 ORPHA:163966 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0001511 ORPHA:163966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0001522 ORPHA:163966 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0001773 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0002007 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0002866 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0003196 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0004279 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0004322 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0005871 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0006028 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0008364 ORPHA:163966 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0008905 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0001251 ORPHA:247245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0008619 ORPHA:247245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0009591 ORPHA:247245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0001272 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0001273 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0001892 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0007240 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0007340 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0011029 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0100543 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0000009 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0000458 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0000726 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0001260 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0001310 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0001350 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0001934 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002013 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002018 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002070 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002075 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002138 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002143 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002315 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002317 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002321 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002334 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002354 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002359 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002921 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0002922 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0003401 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0003418 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0003487 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0003698 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0006827 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0007256 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0007328 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0007366 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0009916 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0010633 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0010829 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0032398 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0100006 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0100026 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0100952 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0001250 ORPHA:247245 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0030321 ORPHA:247245 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247245 Superficial siderosis HP:0045052 ORPHA:247245 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0000666 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0001260 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0002015 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0002073 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0002141 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0002355 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0008003 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0010544 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0001332 ORPHA:98767 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0007256 ORPHA:98767 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98767 Spinocerebellar ataxia type 11 HP:0009830 ORPHA:98767 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000639 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001256 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001260 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001263 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001270 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001272 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001290 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001347 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002066 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002070 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002355 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0006886 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0009046 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0010794 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0030187 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000012 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000020 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000365 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000473 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000543 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000648 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001336 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002015 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002172 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002312 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0006801 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0008003 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001250 ORPHA:98768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001999 ORPHA:98768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002067 ORPHA:98768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0004322 ORPHA:98768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98768 Spinocerebellar ataxia type 13 HP:0025331 ORPHA:98768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0001251 ORPHA:98769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0001272 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0001347 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0002066 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0002345 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0002346 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0007351 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0030188 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0002066 ORPHA:98763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0001290 ORPHA:98763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0002070 ORPHA:98763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0002073 ORPHA:98763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0005109 ORPHA:98763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0006855 ORPHA:98763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0000640 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0001152 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0001260 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0001336 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0001337 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0002063 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0002600 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0003474 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98763 Spinocerebellar ataxia type 14 HP:0100543 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0000640 ORPHA:98764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001260 ORPHA:98764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001337 ORPHA:98764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0000718 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001288 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001761 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002066 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002070 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002078 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002354 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002355 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0003390 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0000486 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0000642 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0000716 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001256 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001272 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002378 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002304 ORPHA:98764 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98764 Spinocerebellar ataxia type 27 HP:0010526 ORPHA:98764 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0002495 ORPHA:98765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0003438 ORPHA:98765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0010830 ORPHA:98765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0010831 ORPHA:98765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0001251 ORPHA:98765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0001260 ORPHA:98765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0001288 ORPHA:98765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0002333 ORPHA:98765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0001284 ORPHA:98765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0003390 ORPHA:98765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0007002 ORPHA:98765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98765 Spinocerebellar ataxia type 4 HP:0009830 ORPHA:98765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98766 Spinocerebellar ataxia type 5 HP:0001272 ORPHA:98766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98766 Spinocerebellar ataxia type 5 HP:0001288 ORPHA:98766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98766 Spinocerebellar ataxia type 5 HP:0001350 ORPHA:98766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98766 Spinocerebellar ataxia type 5 HP:0002311 ORPHA:98766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0000639 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0000802 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0001251 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0001257 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0001272 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0001332 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0001347 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002063 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002066 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002067 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002070 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002172 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002317 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002464 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0006855 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0000020 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0000273 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0000716 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002015 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002495 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002835 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0007772 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98760 Spinocerebellar ataxia type 8 HP:0012110 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000179 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000194 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000303 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000307 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000322 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000358 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000403 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000431 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001822 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001847 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001848 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002019 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002021 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002540 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002572 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002650 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002719 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002750 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002857 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0003763 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0004313 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0004414 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0006482 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007048 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007328 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0009487 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0010055 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0010511 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0011451 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0012385 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0012430 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0040331 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000034 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000041 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000048 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000054 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000175 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000193 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000407 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001153 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001320 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001321 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002015 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002126 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002335 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002465 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002777 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0004961 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007099 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007165 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0011317 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0012081 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0030264 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0410005 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0410031 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000437 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000444 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000490 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000506 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000707 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000733 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001250 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001257 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001273 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001274 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001508 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001627 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002079 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002136 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002251 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002353 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002360 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002607 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0004322 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0005484 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0006956 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007010 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007270 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007359 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0008947 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0009765 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0009909 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0011229 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0025100 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0031936 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000003 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000075 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000076 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000125 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000126 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000212 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000316 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000478 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000480 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000483 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000486 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000508 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000518 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000545 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000568 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000612 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000678 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000684 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000692 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000767 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000768 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000932 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001159 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001166 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001181 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001371 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001492 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001636 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001641 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001642 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001647 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001650 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001680 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001746 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001763 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001249 ORPHA:261537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001344 ORPHA:261537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001999 ORPHA:261537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002474 ORPHA:261537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0040082 ORPHA:261537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000020 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000028 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000047 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000119 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000026 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000054 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000062 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000286 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000303 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000316 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000347 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000368 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000431 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000708 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000729 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000744 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000750 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0001263 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000771 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000774 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0003241 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0000837 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0002750 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0001249 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0001776 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0001999 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0002119 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0002500 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0002788 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0003782 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0008193 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0008734 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0010506 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0011220 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0011343 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0040019 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0040171 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261534 49,XXXYY syndrome HP:0045058 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001260 ORPHA:98761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002066 ORPHA:98761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002073 ORPHA:98761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000639 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000640 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001272 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001310 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002075 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002080 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002141 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002168 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002197 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002317 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0007772 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0011198 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0030186 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0100660 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000012 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000716 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000718 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000741 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001265 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001290 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001347 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002061 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002133 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002360 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002384 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0003487 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98761 Spinocerebellar ataxia type 10 HP:0011153 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001251 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001272 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001300 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001317 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001347 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002059 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002345 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002406 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0030188 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0000708 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0000726 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001288 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002067 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002080 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002174 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002317 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002375 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0007010 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0007141 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0007256 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98762 Spinocerebellar ataxia type 12 HP:0100543 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0001369 ORPHA:85446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0030833 ORPHA:85446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0030834 ORPHA:85446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0000762 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0001227 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0003401 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0003447 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0007078 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0012062 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0012185 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0012531 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0012534 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0000158 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0002015 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0002239 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0002242 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0003040 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0005106 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0005108 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0001635 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0002273 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0002445 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0003043 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0004389 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0011675 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85446 Wild type ABeta2M amyloidosis HP:0100261 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001249 ORPHA:1272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001263 ORPHA:1272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0008897 ORPHA:1272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0012368 ORPHA:1272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000028 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000160 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000175 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000219 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000238 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000239 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000248 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000316 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000343 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000348 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000358 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000369 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000407 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000494 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000505 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000518 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000519 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000582 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000586 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000677 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001182 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001250 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001357 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001376 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001488 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001838 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0002119 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0002120 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0002209 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0002353 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0003196 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0004209 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0004322 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0005280 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0005487 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0007099 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0008551 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0008947 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0011333 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0012385 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000023 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000093 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000270 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000402 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000485 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000501 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000527 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000765 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0000776 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001363 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001643 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001698 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0001701 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0002079 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0002373 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0002650 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0002680 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0002974 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0003187 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0005815 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0012770 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1272 Aymé-Gripp syndrome HP:0030680 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0000112 ORPHA:85447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0001271 ORPHA:85447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0000802 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0001638 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0001640 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0001678 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0001824 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0002014 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0002019 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0012332 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0011675 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0012185 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0012211 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85447 ATTRV30M amyloidosis HP:0100832 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0000028 ORPHA:1270 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0000202 ORPHA:1270 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0000252 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0000340 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0000347 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0000448 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0001250 ORPHA:1270 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0001387 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0001522 ORPHA:1270 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0001838 ORPHA:1270 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0002101 ORPHA:1270 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0002119 ORPHA:1270 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0030680 ORPHA:1270 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0004209 ORPHA:1270 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0004322 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0008846 ORPHA:1270 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0008850 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0008872 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0011344 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1270 Bowen-Conradi syndrome HP:0100490 ORPHA:1270 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0011025 ORPHA:289601 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0003207 ORPHA:289601 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0025015 ORPHA:289601 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0025324 ORPHA:289601 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0012101 ORPHA:289601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0001717 ORPHA:289601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0005116 ORPHA:289601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000478 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000958 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0001005 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0001097 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0001149 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0001488 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000217 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000365 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000505 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000518 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000707 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000969 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000973 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000978 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0001251 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0001271 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0002411 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0007067 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0010628 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0011356 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0011675 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0012185 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0012804 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000093 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000501 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000989 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0008070 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0001260 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0001638 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0004926 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0007488 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0010535 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0010749 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0012473 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0025408 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0000716 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0002483 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0002549 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0003774 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0008404 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85448 AGel amyloidosis HP:0011947 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0012378 ORPHA:85443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0000077 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0000093 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0000100 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0001627 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0001639 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0001824 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0003115 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0006530 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0010702 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0012592 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0031185 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0031326 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0032613 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0410173 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0410174 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0000083 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0000217 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0000978 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0001392 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0001713 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0001903 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0002094 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0002240 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0012332 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0002870 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0003073 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0003155 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0003270 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0005120 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0005307 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0008321 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0008652 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0009830 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0010286 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0011675 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0012185 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0012398 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0025389 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0030164 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0031246 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0031595 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0032550 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0000158 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0001609 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0002015 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0002239 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0002578 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0011024 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85443 AL amyloidosis HP:0012664 ORPHA:85443 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0004395 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0004936 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0011830 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0012622 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0001919 ORPHA:85445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0000821 ORPHA:85445 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0000846 ORPHA:85445 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0001627 ORPHA:85445 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0000077 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0000093 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0000112 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0001917 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0002615 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0011034 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0000100 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0000105 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0001396 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0002013 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0002018 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0002024 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0002027 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0002028 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85445 AA amyloidosis HP:0002240 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000093 ORPHA:85450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000112 ORPHA:85450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0032613 ORPHA:85450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000083 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000822 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001970 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0003259 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0011024 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0012213 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0012591 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000017 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000092 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000100 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000967 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000979 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001410 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001433 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001635 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001824 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001903 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002013 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002014 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002018 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002020 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002027 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002239 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002240 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002716 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002733 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0003198 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0003233 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0003565 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0005214 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0005576 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0009830 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0031368 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0031799 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0410281 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000035 ORPHA:85450 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000135 ORPHA:85450 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000798 ORPHA:85450 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0003251 ORPHA:85450 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0008720 ORPHA:85450 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0000174 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0000347 ORPHA:1278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0000431 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0000574 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0000664 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0001156 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0001177 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0001231 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0002007 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0004059 ORPHA:1278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0010049 ORPHA:1278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0010743 ORPHA:1278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0011304 ORPHA:1278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000026 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000028 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000047 ORPHA:163971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000252 ORPHA:163971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000336 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000400 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000426 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000490 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000709 ORPHA:163971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000815 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000837 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0002750 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0004209 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0001256 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0001508 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0004322 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0001792 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0001999 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0008187 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0008734 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0004440 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0011999 ORPHA:163971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0040171 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0100962 ORPHA:163971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0200055 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0000853 ORPHA:226316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0002925 ORPHA:226316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0008263 ORPHA:226316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0025484 ORPHA:226316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0031507 ORPHA:226316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0000158 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0001070 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0001254 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0001537 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0001615 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0002019 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0006579 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0011968 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0031169 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0031221 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0100786 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0000969 ORPHA:226316 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0001252 ORPHA:226316 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0002045 ORPHA:226316 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:226316 Genetic transient congenital hypothyroidism HP:0005990 ORPHA:226316 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001692 ORPHA:85451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0003115 ORPHA:85451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0030843 ORPHA:85451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0031185 ORPHA:85451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0410174 ORPHA:85451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001639 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001640 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001723 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0005150 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0011675 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0012664 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001297 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001635 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001681 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001712 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001903 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001907 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0003416 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0012185 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0012332 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0025028 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0100550 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001271 ORPHA:85451 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0001650 ORPHA:85451 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85451 ATTRV122I amyloidosis HP:0009830 ORPHA:85451 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0000174 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0000347 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0000444 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0001156 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0001633 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0003027 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0003043 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0004299 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0009804 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0100543 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0100818 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1276 Brachydactyly-arterial hypertension syndrome HP:0000822 ORPHA:1276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1276 Brachydactyly-arterial hypertension syndrome HP:0001156 ORPHA:1276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1276 Brachydactyly-arterial hypertension syndrome HP:0004322 ORPHA:1276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1276 Brachydactyly-arterial hypertension syndrome HP:0009803 ORPHA:1276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1276 Brachydactyly-arterial hypertension syndrome HP:0010049 ORPHA:1276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0025104 ORPHA:137667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0011276 ORPHA:137667 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0000421 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001004 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001009 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001722 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001892 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0002408 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0002637 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0004947 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0009127 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0012733 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0030713 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0100026 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0100763 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0100784 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0000011 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0000238 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0000996 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001028 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001250 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001627 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001635 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001790 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0002076 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0002315 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0004302 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0010310 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0020073 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0000256 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0001156 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0001231 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0001387 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0040071 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0003042 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0003063 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0004209 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0005048 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0006501 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0009832 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0000851 ORPHA:226313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0000853 ORPHA:226313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0002925 ORPHA:226313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0003270 ORPHA:226313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0031507 ORPHA:226313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0000158 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001070 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001265 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001319 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001520 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001537 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001538 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0002019 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0002045 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0002663 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0005280 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0005930 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0006579 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0008820 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0008872 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0100786 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0500011 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0000958 ORPHA:226313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001662 ORPHA:226313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0002098 ORPHA:226313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0004491 ORPHA:226313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000496 ORPHA:247234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001251 ORPHA:247234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002066 ORPHA:247234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000572 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000608 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000640 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002354 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0012332 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0007670 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0007772 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0008278 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000338 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000763 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001257 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001260 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001291 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001300 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001347 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002015 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002063 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002075 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002304 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002322 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002362 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0003487 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000020 ORPHA:247234 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000726 ORPHA:247234 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002080 ORPHA:247234 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000572 ORPHA:59181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0007754 ORPHA:59181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0030500 ORPHA:59181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0031528 ORPHA:59181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000610 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000662 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0001129 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0011506 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0030491 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0030602 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0030625 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000533 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000580 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000618 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0001105 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0001141 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0007722 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000026 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000028 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000252 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000278 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000735 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000815 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000837 ORPHA:163976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0002750 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0004209 ORPHA:163976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0001256 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0001508 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0004322 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0001511 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0005978 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0007018 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0008187 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0008551 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0008734 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0004440 ORPHA:163976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0012646 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0040171 ORPHA:163976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002073 ORPHA:98756 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0045007 ORPHA:98756 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0000514 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0000623 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0000639 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0000726 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0001260 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0001265 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0001290 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0001332 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002066 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002072 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002174 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002380 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0003133 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0003394 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0006955 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0008311 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0012082 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0025461 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0030186 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0000597 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0001300 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002120 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002536 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0006801 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98756 Spinocerebellar ataxia type 2 HP:0012762 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0000520 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0000590 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0000639 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0000651 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0000750 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0001260 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0001332 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0001347 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0002071 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0002073 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0002312 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0003202 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0007256 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0001605 ORPHA:98757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0001751 ORPHA:98757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98757 Spinocerebellar ataxia type 3 HP:0004370 ORPHA:98757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0000639 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002066 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002073 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002080 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002172 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002311 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002317 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0007979 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0030511 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0000504 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0000651 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0001347 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002015 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0003487 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0010544 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0030842 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0000643 ORPHA:98758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0001260 ORPHA:98758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98758 Spinocerebellar ataxia type 6 HP:0001332 ORPHA:98758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001251 ORPHA:98759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001288 ORPHA:98759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0000473 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0000643 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0000708 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001257 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001268 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001272 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001300 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001332 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0002063 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0002072 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0002529 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0004305 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0007058 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0007256 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0007366 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0012082 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98759 Spinocerebellar ataxia type 17 HP:0002356 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000026 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000027 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000028 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000033 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000047 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000048 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000051 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000061 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000133 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000150 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000771 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0004322 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0001513 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0003251 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0008222 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0008669 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0000062 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0010460 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0010461 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0010464 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0012741 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261529 Ring chromosome Y syndrome HP:0100779 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000028 ORPHA:98754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001513 ORPHA:98754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002119 ORPHA:98754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0008872 ORPHA:98754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000044 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000046 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000060 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000064 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000486 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000708 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000709 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000717 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000729 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000786 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000789 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000823 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000824 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001252 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001256 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001328 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001508 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001773 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002205 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002591 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002650 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0003241 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0004322 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0006889 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0008734 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0010627 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0011734 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012104 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012105 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012650 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0025160 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0030339 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0031169 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0200055 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000819 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000938 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000939 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001250 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001263 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001385 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001518 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001558 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002360 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002578 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002714 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002870 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002871 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0007874 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0010741 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0010829 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0011787 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012166 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012411 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012412 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0031100 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0031507 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0100716 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0100739 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000826 ORPHA:98754 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001010 ORPHA:98754 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002342 ORPHA:98754 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0005599 ORPHA:98754 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0007730 ORPHA:98754 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002073 ORPHA:98755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0009830 ORPHA:98755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0000496 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0000514 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001260 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001272 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001288 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001332 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001350 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002015 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002067 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002072 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002354 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002483 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0007001 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0007366 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0007377 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0007928 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0025331 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0025401 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0030216 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0040129 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0100543 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0000597 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0000639 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0000648 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001265 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001290 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001310 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002075 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002141 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002174 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002363 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002380 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002878 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0003202 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0006801 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0007338 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0010831 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98755 Spinocerebellar ataxia type 1 HP:0410011 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0000054 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0000368 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0000470 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0006610 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0000789 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0000914 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0010049 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0001249 ORPHA:261524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0001252 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0001256 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0001263 ORPHA:261524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0004322 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0002162 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0002916 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0002967 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0100853 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0008734 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0011343 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001250 ORPHA:2590 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001336 ORPHA:2590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002366 ORPHA:2590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0004302 ORPHA:2590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0007340 ORPHA:2590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0012379 ORPHA:2590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0000708 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001337 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002100 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002123 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002312 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002355 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002359 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002747 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0010819 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0011147 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0000407 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001268 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001757 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002515 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002540 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002650 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002878 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0025097 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0025190 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0032667 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0045084 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001249 ORPHA:2590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002015 ORPHA:2590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001371 ORPHA:2590 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001433 ORPHA:2590 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001609 ORPHA:2590 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0200036 ORPHA:2590 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0000077 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0000169 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0000271 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0000478 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0000765 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0000929 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0000934 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0000944 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0001376 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0001482 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0001595 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0002242 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0002575 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0002797 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0002894 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0003011 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0003072 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0004374 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0005107 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0005214 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0007400 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0008069 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0010614 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0012062 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0100242 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0100526 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0100835 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2591 Infantile myofibromatosis HP:0200042 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000252 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000268 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000347 ORPHA:1261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000505 ORPHA:1261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000824 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0001256 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0001257 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0002119 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0002353 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0002514 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0004322 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0002829 ORPHA:85435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0002923 ORPHA:85435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0005764 ORPHA:85435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0001376 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0001386 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0002813 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0003565 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0005187 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0005930 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0006252 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0011227 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0030782 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0040311 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0100769 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0000938 ORPHA:85435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0004349 ORPHA:85435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0010588 ORPHA:85435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0100555 ORPHA:85435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000252 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000316 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000337 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000343 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000347 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000400 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000407 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000431 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000486 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000505 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000518 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000545 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000567 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000609 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000639 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0000648 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0001250 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0001257 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0001288 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0001321 ORPHA:163937 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0001344 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0001508 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0002063 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0002120 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0002342 ORPHA:163937 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0002650 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163937 X-linked intellectual disability, Najm type HP:0011344 ORPHA:163937 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0011118 ORPHA:85436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0000989 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0001803 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0002829 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0002960 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0003493 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0003765 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0005764 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0031090 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0031091 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0040313 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0100686 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0000554 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0000988 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0001376 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0002815 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0003019 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0003043 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0005197 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0007663 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0012122 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0025300 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0025526 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0001094 ORPHA:85436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0001101 ORPHA:85436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0001806 ORPHA:85436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0010754 ORPHA:85436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0012317 ORPHA:85436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001369 ORPHA:85438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0002829 ORPHA:85438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0100686 ORPHA:85438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0000925 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001384 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003028 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003418 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0004690 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0005086 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0008364 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0008843 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0012317 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0040313 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0100536 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0100712 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001627 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001760 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001832 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003019 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003043 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003319 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003366 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0006217 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0009811 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0011842 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0011911 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0012122 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0031090 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0100711 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0000794 ORPHA:85438 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001634 ORPHA:85438 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001659 ORPHA:85438 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0006698 ORPHA:85438 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0000016 ORPHA:1267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0000217 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0000651 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0001260 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0002014 ORPHA:1267 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0002015 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0002017 ORPHA:1267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0002019 ORPHA:1267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0002027 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0002093 ORPHA:1267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0006597 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0006824 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0010547 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0011499 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0011675 ORPHA:1267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0100021 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0009113 ORPHA:1267 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1267 Botulism HP:0012378 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0000164 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0000677 ORPHA:1264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0008070 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0001118 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0001155 ORPHA:1264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0001156 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0007703 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0010047 ORPHA:1264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0011069 ORPHA:1264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0030056 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0000028 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0000774 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0000824 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0005916 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0001539 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0001561 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0001789 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0002818 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0002823 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0002983 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0002992 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0040071 ORPHA:1263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0003063 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0006101 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0006492 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0006703 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0008890 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0010318 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0011849 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0100569 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1263 Boomerang dysplasia HP:0100856 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1262 Böök syndrome HP:0000164 ORPHA:1262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1262 Böök syndrome HP:0000189 ORPHA:1262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1262 Böök syndrome HP:0000534 ORPHA:1262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1262 Böök syndrome HP:0000668 ORPHA:1262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1262 Böök syndrome HP:0000975 ORPHA:1262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1262 Böök syndrome HP:0001804 ORPHA:1262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1262 Böök syndrome HP:0002216 ORPHA:1262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1262 Böök syndrome HP:0007477 ORPHA:1262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1262 Böök syndrome HP:0007598 ORPHA:1262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1262 Böök syndrome HP:0200055 ORPHA:1262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001250 ORPHA:352582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0002123 ORPHA:352582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001260 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001272 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0006891 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0007359 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0011171 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0011197 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0025190 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0025373 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0000520 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0000643 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0000750 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001251 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001256 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001263 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001270 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001288 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0002069 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0002312 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0002342 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0006889 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0025100 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0032388 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352582 Familial infantile myoclonic epilepsy HP:0045084 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2593 Tubular aggregate myopathy HP:0003326 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2593 Tubular aggregate myopathy HP:0003394 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2593 Tubular aggregate myopathy HP:0003458 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2593 Tubular aggregate myopathy HP:0003473 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2593 Tubular aggregate myopathy HP:0030200 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2593 Tubular aggregate myopathy HP:0100301 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2593 Tubular aggregate myopathy HP:0003557 ORPHA:2593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2593 Tubular aggregate myopathy HP:0003687 ORPHA:2593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2593 Tubular aggregate myopathy HP:0003554 ORPHA:2593 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0003756 ORPHA:2596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0007126 ORPHA:2596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0100651 ORPHA:2596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0002395 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0002540 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0003487 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0003546 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0003547 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0003551 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0009046 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0009073 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0012391 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0001260 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0002073 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0002098 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0002342 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0002359 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0003326 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0003477 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0003749 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0008944 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0012036 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0012507 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0030051 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0030319 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0000407 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0000726 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0001319 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0001771 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0002495 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0031258 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2596 Myopathy and diabetes mellitus HP:0100753 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0000407 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0001250 ORPHA:2597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0001942 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0003198 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0003202 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0003348 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0003457 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0003737 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0004320 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000218 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000252 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000343 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000347 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000501 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000823 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0001249 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0001252 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0001903 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0001939 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0002650 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0002808 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0003128 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0003196 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0003198 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0003457 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0003737 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0009055 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0009743 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000027 ORPHA:261519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000062 ORPHA:261519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000233 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000252 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000470 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000914 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001010 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001249 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001250 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001274 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001263 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001371 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001399 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0004322 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001635 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001838 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0002162 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0002650 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0002916 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0002967 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0003186 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0003248 ORPHA:261519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0003550 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0005280 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0008193 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0100490 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0000140 ORPHA:137686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0000868 ORPHA:137686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0000876 ORPHA:137686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0000789 ORPHA:137686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0000869 ORPHA:137686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0002574 ORPHA:137686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0005268 ORPHA:137686 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0100607 ORPHA:137686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0100608 ORPHA:137686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0031035 ORPHA:137686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137686 Asherman syndrome HP:0100767 ORPHA:137686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0000177 ORPHA:1253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0000218 ORPHA:1253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0000316 ORPHA:1253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0000445 ORPHA:1253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0000492 ORPHA:1253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0000505 ORPHA:1253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0000508 ORPHA:1253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0000581 ORPHA:1253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0000821 ORPHA:1253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0000853 ORPHA:1253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0004097 ORPHA:1253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1253 Ascher syndrome HP:0012724 ORPHA:1253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000154 ORPHA:163956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000958 ORPHA:163956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002194 ORPHA:163956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002465 ORPHA:163956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0009765 ORPHA:163956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000054 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000076 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000233 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000256 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000316 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000475 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000582 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000664 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000718 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001250 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001629 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001761 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001773 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002162 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002230 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002500 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002714 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0003265 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0005280 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0006610 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0007103 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0010529 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0010864 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0012450 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000028 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000047 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000348 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000365 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000400 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000430 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000486 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000519 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000722 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001562 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001636 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001643 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001655 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001718 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001719 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001776 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001845 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001875 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002002 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002092 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002205 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002342 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0004467 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0004969 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0005345 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0007509 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0008404 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0010721 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0011800 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0011913 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0012110 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0030311 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0100760 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0100838 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0410018 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000023 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000028 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000175 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000286 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000298 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000343 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000365 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000430 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000431 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000445 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000499 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000506 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000581 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000632 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000648 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001072 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001249 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001304 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001347 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001582 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001608 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0002162 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0005338 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0005692 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0006101 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0008572 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0009804 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1252 Blepharonasofacial malformation syndrome HP:0100335 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001025 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001072 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001369 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001376 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001880 ORPHA:2582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001888 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0002103 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0003011 ORPHA:2582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0005469 ORPHA:2582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0007328 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0001015 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0001482 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0002841 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0003330 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0005406 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0010219 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0030053 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0031288 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0000939 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0001155 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0002754 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0002815 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0011844 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0025245 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0040072 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0100763 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0000152 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0000707 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0000765 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0002661 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0002756 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0002953 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0003312 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0003418 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0010550 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0012062 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0031500 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0031501 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2583 Mycetoma HP:0100809 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0000492 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0000958 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0000962 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0000964 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0000969 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0000988 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0000989 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0001029 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0001053 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0001596 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0001597 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0001744 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0002240 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0002665 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0002716 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0004332 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0005561 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0007400 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0008069 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0010783 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0012192 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0200035 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2584 Classic mycosis fungoides HP:0200042 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0000252 ORPHA:2585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0000639 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001251 ORPHA:2585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001272 ORPHA:2585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001288 ORPHA:2585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001347 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001744 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001874 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001876 ORPHA:2585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001908 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0002167 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0002205 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0002317 ORPHA:2585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0004311 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0004313 ORPHA:2585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0004820 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0007360 ORPHA:2585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2585 Ataxia-pancytopenia syndrome HP:0011869 ORPHA:2585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0001249 ORPHA:352577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0001263 ORPHA:352577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0002167 ORPHA:352577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0008872 ORPHA:352577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0008947 ORPHA:352577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000252 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000486 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000729 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000924 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0001344 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0002187 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0002705 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0010864 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000194 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000232 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000268 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000316 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000414 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000426 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000430 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000494 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000582 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000664 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0000678 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0001166 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0001250 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0001276 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0001320 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0001519 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0001763 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0002342 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0002360 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0002500 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0002540 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0002553 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0002650 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0003189 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0004673 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0009765 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0011220 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352577 Bainbridge-Ropers syndrome HP:0100023 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000160 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000233 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000303 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000327 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000365 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000772 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000926 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0001156 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0001249 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0001263 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0001328 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0001387 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0001511 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0003172 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0003510 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0003712 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0004279 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0004493 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0008818 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0011800 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000028 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000159 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000508 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000581 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000822 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000944 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0001072 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0001671 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0003457 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0005930 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0008499 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0012745 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000023 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000036 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000039 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000047 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000135 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000175 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000176 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000193 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000518 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000708 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0000826 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0003241 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0030690 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0100333 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2588 Myhre syndrome HP:0100541 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0000269 ORPHA:1259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0000501 ORPHA:1259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0000508 ORPHA:1259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0000545 ORPHA:1259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0000612 ORPHA:1259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0001083 ORPHA:1259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0007703 ORPHA:1259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0011039 ORPHA:1259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0100540 ORPHA:1259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0100798 ORPHA:1259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0001260 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0001336 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0002073 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0002080 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0002522 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0003445 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0003700 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0007141 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0007240 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0008619 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000252 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000340 ORPHA:2570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000347 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000369 ORPHA:2570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000470 ORPHA:2570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000490 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000581 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0001181 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0001360 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0001376 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0001511 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0001558 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0002103 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0002120 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0002324 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0002828 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0006703 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0007360 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0007370 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0007477 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0008678 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0010662 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0100490 ORPHA:2570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0100625 ORPHA:2570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome HP:0001251 ORPHA:2579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome HP:0003198 ORPHA:2579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome HP:0005978 ORPHA:2579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome HP:0007703 ORPHA:2579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139414 Congenital panfollicular nevus HP:0010566 ORPHA:139414 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:139414 Congenital panfollicular nevus HP:0012500 ORPHA:139414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139414 Congenital panfollicular nevus HP:0200036 ORPHA:139414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139414 Congenital panfollicular nevus HP:0000962 ORPHA:139414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139414 Congenital panfollicular nevus HP:0000989 ORPHA:139414 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:139414 Congenital panfollicular nevus HP:0012531 ORPHA:139414 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0000822 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0001541 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0001649 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0001903 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002014 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002017 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002027 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002039 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002113 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002239 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002315 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002666 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002668 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002716 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0002717 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0008256 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0011675 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0012378 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0100243 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0100721 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139411 Carney triad HP:0100723 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1243 Best vitelliform macular dystrophy HP:0000505 ORPHA:1243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1243 Best vitelliform macular dystrophy HP:0000551 ORPHA:1243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1243 Best vitelliform macular dystrophy HP:0001123 ORPHA:1243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1243 Best vitelliform macular dystrophy HP:0001139 ORPHA:1243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1243 Best vitelliform macular dystrophy HP:0008028 ORPHA:1243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1243 Best vitelliform macular dystrophy HP:0012508 ORPHA:1243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0001324 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002071 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002922 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0003474 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0012229 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0012332 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0000016 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0000020 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0000822 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0001257 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0001278 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0001287 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0001288 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0001347 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0001945 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002019 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002138 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002385 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002493 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002495 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002578 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002590 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002721 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002725 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002839 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0002960 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0003401 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0003418 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0003484 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0003487 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0004370 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0005341 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0007305 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0009053 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0010547 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0010550 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0010831 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0010835 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0011967 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0011972 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0012378 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0012534 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0025615 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0031179 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0031691 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0031700 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0031845 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0032271 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0032283 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0100502 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139417 Acute transverse myelitis HP:0200023 ORPHA:139417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1241 Bencze syndrome HP:0000176 ORPHA:1241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1241 Bencze syndrome HP:0000324 ORPHA:1241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1241 Bencze syndrome HP:0000486 ORPHA:1241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1241 Bencze syndrome HP:0000506 ORPHA:1241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1241 Bencze syndrome HP:0000582 ORPHA:1241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1241 Bencze syndrome HP:0000646 ORPHA:1241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1241 Bencze syndrome HP:0005325 ORPHA:1241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1241 Bencze syndrome HP:0010807 ORPHA:1241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000286 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000316 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000431 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000457 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000506 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000940 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000944 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0001156 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0001249 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0001373 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0001831 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002007 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002650 ORPHA:1240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002673 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002823 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002970 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002983 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0003510 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0005616 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0006059 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0006487 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0010579 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0011220 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0012368 ORPHA:1240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0000044 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0000141 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0000789 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0000824 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0000938 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0001943 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0002615 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0002920 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0005625 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0012378 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0040086 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0000823 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0000863 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0000871 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0001510 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0002750 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0008245 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0008734 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0009888 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95619 Post-traumatic pituitary deficiency HP:0010311 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0000009 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0000639 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0000662 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0001276 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0001347 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0002205 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0004374 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0008348 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0012638 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0000518 ORPHA:2571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0002103 ORPHA:2571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2571 X-linked immunoneurologic disorder HP:0003198 ORPHA:2571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0000519 ORPHA:2572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0000545 ORPHA:2572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0000648 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0001131 ORPHA:2572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0001251 ORPHA:2572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0001288 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0002497 ORPHA:2572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0002503 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0003457 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0004313 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0004374 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0007360 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2573 Moyamoya disease HP:0001009 ORPHA:2573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2573 Moyamoya disease HP:0001249 ORPHA:2573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2573 Moyamoya disease HP:0001250 ORPHA:2573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2573 Moyamoya disease HP:0002119 ORPHA:2573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2573 Moyamoya disease HP:0100659 ORPHA:2573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2574 Moynahan syndrome HP:0000135 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2574 Moynahan syndrome HP:0000252 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2574 Moynahan syndrome HP:0000407 ORPHA:2574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2574 Moynahan syndrome HP:0000962 ORPHA:2574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2574 Moynahan syndrome HP:0001249 ORPHA:2574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2574 Moynahan syndrome HP:0001250 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2574 Moynahan syndrome HP:0001596 ORPHA:2574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2574 Moynahan syndrome HP:0004322 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2574 Moynahan syndrome HP:0004326 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2574 Moynahan syndrome HP:0008070 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000083 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000093 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000407 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000509 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000554 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000763 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000790 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000988 ORPHA:36412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000989 ORPHA:36412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001250 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001251 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001287 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001315 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001369 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001373 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001541 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001654 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001698 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001744 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002014 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002017 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002027 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002091 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002094 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002097 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002105 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002202 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002240 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002665 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002716 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002718 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002960 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0003326 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0004374 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0004431 ORPHA:36412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0006536 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0006824 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0007400 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0009830 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0011944 ORPHA:36412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0012735 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100021 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100326 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100533 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100534 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100665 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100820 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000047 ORPHA:2575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000049 ORPHA:2575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000100 ORPHA:2575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000316 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000347 ORPHA:2575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000400 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000431 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000490 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000506 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000807 ORPHA:2575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0001249 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0001877 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0001889 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0002007 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0002014 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0002205 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0004826 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0005263 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2576 Mulibrey nanism HP:0000256 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2576 Mulibrey nanism HP:0000431 ORPHA:2576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2576 Mulibrey nanism HP:0001315 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2576 Mulibrey nanism HP:0001511 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2576 Mulibrey nanism HP:0001620 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2576 Mulibrey nanism HP:0002240 ORPHA:2576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2576 Mulibrey nanism HP:0002680 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2576 Mulibrey nanism HP:0004322 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2576 Mulibrey nanism HP:0004326 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0030521 ORPHA:95613 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0030907 ORPHA:95613 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000651 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000802 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000815 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000822 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000876 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0001943 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0002017 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0002315 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0002615 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0002893 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0002902 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0006824 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0008202 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0008245 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0011748 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0030591 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0030595 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000508 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000613 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000622 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000824 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000870 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000980 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0001259 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0001945 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0002921 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0007663 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0011499 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0012378 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0040075 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0100829 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000845 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0000863 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0001262 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0001289 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0003118 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0001895 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0002339 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95613 Pituitary apoplexy HP:0100661 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0000175 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0000303 ORPHA:1248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0000327 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0000457 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0000691 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0001065 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0002000 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0002650 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0003196 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0004609 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0005280 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0005288 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0008428 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0009804 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0009882 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0010185 ORPHA:1248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0010807 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0011800 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0011892 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1248 Maxillonasal dysplasia HP:0012368 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000027 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000086 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000104 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000110 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000365 ORPHA:2578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000470 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000772 ORPHA:2578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000813 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0002162 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0003422 ORPHA:2578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0004322 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0008684 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0002352 ORPHA:83629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0005871 ORPHA:83629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0000505 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0000587 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0001249 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0001258 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0001288 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0001337 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0001347 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0002059 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0002062 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0002079 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0003020 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0003487 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0004349 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0012747 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0030866 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0030051 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0100707 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0000463 ORPHA:83629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0000666 ORPHA:83629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0005280 ORPHA:83629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0011800 ORPHA:83629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0000028 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0000047 ORPHA:83628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0000048 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0000054 ORPHA:83628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0000059 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0000062 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0000075 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0000076 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0000104 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0000136 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0001028 ORPHA:83628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0002023 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0002414 ORPHA:83628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0002475 ORPHA:83628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0002836 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0004397 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83628 LUMBAR syndrome HP:0010609 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0000719 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0001251 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0002063 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0002072 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0002354 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0100543 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0000709 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0000716 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0000739 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0001300 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0001332 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0001337 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0002493 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0001336 ORPHA:401901 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83620 Enteric anendocrinosis HP:0001944 ORPHA:83620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83620 Enteric anendocrinosis HP:0002013 ORPHA:83620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83620 Enteric anendocrinosis HP:0002014 ORPHA:83620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83620 Enteric anendocrinosis HP:0002024 ORPHA:83620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83620 Enteric anendocrinosis HP:0004918 ORPHA:83620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83620 Enteric anendocrinosis HP:0001409 ORPHA:83620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83620 Enteric anendocrinosis HP:0002611 ORPHA:83620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83620 Enteric anendocrinosis HP:0025354 ORPHA:83620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83620 Enteric anendocrinosis HP:0100651 ORPHA:83620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000174 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000248 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000252 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000303 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000316 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000324 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000337 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000384 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000486 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000506 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000568 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000592 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000612 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000668 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000765 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0001182 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0001250 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0001276 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0002006 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0002007 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0002558 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0002650 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0007477 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0007598 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0009748 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0010751 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0011304 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0100022 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0100267 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0100490 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0100543 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0100720 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0000083 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0000100 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0000988 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001019 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001695 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001824 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001880 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001945 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001970 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0002094 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0002113 ORPHA:139402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0002383 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0002716 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0002910 ORPHA:139402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0006515 ORPHA:139402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0006554 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0009830 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0010783 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0012115 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0012733 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0012735 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0012819 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0030249 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0100326 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0100646 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0100665 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0100827 ORPHA:139402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0200039 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0000050 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0000062 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0000160 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0000161 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0000175 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0000252 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0000347 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0000430 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0000625 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0001249 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0001770 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0001800 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0001883 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0030680 ORPHA:1234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0003196 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0006101 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0007418 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0007957 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0008678 ORPHA:1234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0009755 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0009756 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0009777 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0010185 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0100240 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0100840 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1234 Bartsocas-Papas syndrome HP:0200102 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0000496 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0001252 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0001332 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0001336 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0001522 ORPHA:139406 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0001744 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0002069 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0002093 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0002205 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0002240 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000049 ORPHA:1231 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000154 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000271 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000316 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000365 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000377 ORPHA:1231 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000413 ORPHA:1231 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000414 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000431 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000463 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000506 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000656 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000684 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0000974 ORPHA:1231 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0001508 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0001582 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0002230 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0002557 ORPHA:1231 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0008065 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0011224 ORPHA:1231 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0100783 ORPHA:1231 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0100840 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1231 Barber-Say syndrome HP:0200102 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0001258 ORPHA:306617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0001256 ORPHA:306617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0002342 ORPHA:306617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0002493 ORPHA:306617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0007340 ORPHA:306617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0100543 ORPHA:306617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0001181 ORPHA:306617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0001251 ORPHA:306617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0001268 ORPHA:306617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000044 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000182 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000298 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000486 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000544 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0001167 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0001252 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0001776 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0002342 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0002540 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0003477 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0007108 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0007209 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0008000 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0045037 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0001513 ORPHA:2563 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000179 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000215 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000218 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000248 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000256 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000316 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000319 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000337 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000343 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000348 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000470 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000486 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000494 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000501 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000567 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000625 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000639 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000679 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000684 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000689 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000879 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000965 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0001176 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0001249 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0001250 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0001520 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0001548 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0001795 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0001833 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0002007 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0002980 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0004322 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0007633 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000286 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0008577 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0011849 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0012810 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0025112 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000098 ORPHA:2563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000618 ORPHA:2563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000717 ORPHA:2563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0006585 ORPHA:2563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2563 MOMO syndrome HP:0000820 ORPHA:2563 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2564 Tetramelic monodactyly HP:0001171 ORPHA:2564 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2564 Tetramelic monodactyly HP:0012165 ORPHA:2564 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000028 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000062 ORPHA:1237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000347 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000368 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000414 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000431 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0001252 ORPHA:1237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0001334 ORPHA:1237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0001873 ORPHA:1237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0002002 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0002093 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0030680 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1237 Beemer-Ertbruggen syndrome HP:0011001 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0005227 ORPHA:401911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0200063 ORPHA:401911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0003003 ORPHA:401911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0100743 ORPHA:401911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0000968 ORPHA:401911 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0008070 ORPHA:401911 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:3000050 ORPHA:401911 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000154 ORPHA:83619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000316 ORPHA:83619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000384 ORPHA:83619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000508 ORPHA:83619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000602 ORPHA:83619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0004467 ORPHA:83619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0011272 ORPHA:83619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0011338 ORPHA:83619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0000083 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0000505 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0000509 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0000613 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0000621 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0000795 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0001637 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0001645 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0001658 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0001733 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0001824 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0001873 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0001874 ORPHA:36426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0001903 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0001945 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0001960 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002014 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002015 ORPHA:36426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002017 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002027 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002043 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002091 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002094 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002103 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002205 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002239 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0002910 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0003781 ORPHA:36426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0006554 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0008066 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0010783 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0012378 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0012733 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0012735 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0030016 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0100518 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0100792 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0100806 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36426 Stevens-Johnson syndrome HP:0200020 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0010976 ORPHA:83617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000175 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000252 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000347 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000369 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000430 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000452 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000581 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001036 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001051 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001166 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001263 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001508 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002098 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002850 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0004440 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0008897 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0011471 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0025092 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0031190 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000023 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000028 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000054 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000126 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000160 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000244 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000278 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000286 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000348 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000431 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000494 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000883 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000890 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000954 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000964 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000989 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001081 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001344 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001511 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001845 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002021 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002089 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002208 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002240 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002506 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002594 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002949 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0004425 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0004616 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0005365 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0006560 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0009697 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0011682 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0012444 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000219 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000252 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000322 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000331 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000358 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000430 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001256 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001488 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001763 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001863 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0004322 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0009237 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0011833 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000028 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000047 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000054 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000126 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000175 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000238 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000337 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000453 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000494 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000520 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000582 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001187 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001321 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001629 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001631 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001643 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001782 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001838 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001873 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001903 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002093 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002170 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002682 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002777 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002901 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002904 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0004691 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0005306 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0006610 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0008386 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0008551 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0010511 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0011467 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0011611 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0030148 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0002121 ORPHA:139431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0011168 ORPHA:139431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0002123 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0010852 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0010858 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0011185 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0011193 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0020216 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0025190 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0045084 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0100785 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0000739 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0001249 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0001328 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0002373 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0002457 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0007704 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0010819 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0010850 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0011182 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0012001 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0010818 ORPHA:139431 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:139431 Jeavons syndrome HP:0031491 ORPHA:139431 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000069 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000076 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000126 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000160 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000175 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000218 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000239 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000244 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000248 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000275 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000286 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000316 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000337 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000347 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000405 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000426 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000446 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000520 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000601 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0000639 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0001029 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0005916 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0001180 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0001191 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0001510 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0001511 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0001531 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0001545 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0001671 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0002007 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0002023 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0002024 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0002650 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0002665 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0002669 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0003196 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0004322 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0006487 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0006498 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0006501 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0009601 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0100542 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1225 Baller-Gerold syndrome HP:0100589 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0000486 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0000639 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0001249 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0001263 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0001328 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0001387 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0002300 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0002381 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0002381 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0002984 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0003022 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0003042 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0003196 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0003510 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0007957 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0010529 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0000348 ORPHA:2557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0000431 ORPHA:2557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0000445 ORPHA:2557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0003070 ORPHA:2557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0004209 ORPHA:2557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0000252 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0000482 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0000518 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0000647 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0001385 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0001840 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0001883 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0002673 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0002812 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0002827 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0002991 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2557 Mietens syndrome HP:0005743 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139436 Multicentric reticulohistiocytosis HP:0001324 ORPHA:139436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139436 Multicentric reticulohistiocytosis HP:0001369 ORPHA:139436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139436 Multicentric reticulohistiocytosis HP:0001945 ORPHA:139436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139436 Multicentric reticulohistiocytosis HP:0004326 ORPHA:139436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139436 Multicentric reticulohistiocytosis HP:0100727 ORPHA:139436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139436 Multicentric reticulohistiocytosis HP:0200036 ORPHA:139436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0001276 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0002267 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0002376 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0002384 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0007333 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0010818 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0012018 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0200134 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0000243 ORPHA:163985 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0001288 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0002901 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0000117 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0002669 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0011847 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0003468 ORPHA:352540 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0003155 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0030731 ORPHA:352540 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0001067 ORPHA:352540 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0001324 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0003109 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0002148 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0010734 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0002653 ORPHA:352540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0003701 ORPHA:352540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0002659 ORPHA:352540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0002756 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0010622 ORPHA:352540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0002823 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0012288 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0001850 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0001760 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0040163 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0002982 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352540 Oncogenic osteomalacia HP:0002991 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1221 Cheilitis glandularis HP:0000179 ORPHA:1221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1221 Cheilitis glandularis HP:0002664 ORPHA:1221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1221 Cheilitis glandularis HP:0002860 ORPHA:1221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1221 Cheilitis glandularis HP:0010286 ORPHA:1221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1221 Cheilitis glandularis HP:0010978 ORPHA:1221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0001824 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002027 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002028 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002254 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002721 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0005407 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0000246 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0001945 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002013 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002018 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002039 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0011277 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0012384 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0012387 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0000024 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0000123 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0000206 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0000491 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0000572 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0000828 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0000849 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0001080 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0001096 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0001250 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0001733 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0001743 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0001944 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002090 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002383 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002586 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002754 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002778 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0002840 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0004326 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0005561 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0008777 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0011027 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0011950 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0012115 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0012804 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0012819 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0025439 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0030049 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0030126 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0030151 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0100584 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0100614 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0100646 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0100806 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0200036 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2552 Microsporidiosis HP:0500006 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0000252 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0001250 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0001257 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0001347 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0002120 ORPHA:1229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0002514 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0100022 ORPHA:1229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1228 Banki syndrome HP:0001156 ORPHA:1228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1228 Banki syndrome HP:0005916 ORPHA:1228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1228 Banki syndrome HP:0004209 ORPHA:1228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1228 Banki syndrome HP:0005048 ORPHA:1228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000028 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000160 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000252 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000278 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000347 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000356 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000413 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0001508 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0001510 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0001511 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0002750 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0003100 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0003510 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0004209 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0005692 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0005930 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0009892 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0009939 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0011267 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0011968 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000059 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000060 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000064 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000327 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000358 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000369 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000772 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0001363 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0002094 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0002098 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0002705 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0002878 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0006443 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0006660 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0008665 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0100490 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000039 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000047 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000175 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000176 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000193 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0000365 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0001249 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0001263 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0001328 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0003042 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0008736 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0012471 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2554 Ear-patella-short stature syndrome HP:0100783 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000035 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000147 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000164 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000252 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000275 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000340 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000444 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000490 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000821 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000828 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0000842 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0001249 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0001250 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0001251 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0001511 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0003118 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0002353 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0004097 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0004322 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0008193 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1227 Bangstad syndrome HP:0100651 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1226 Bamforth-Lazarus syndrome HP:0000175 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1226 Bamforth-Lazarus syndrome HP:0000278 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1226 Bamforth-Lazarus syndrome HP:0000453 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1226 Bamforth-Lazarus syndrome HP:0000851 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1226 Bamforth-Lazarus syndrome HP:0001249 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1226 Bamforth-Lazarus syndrome HP:0001561 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1226 Bamforth-Lazarus syndrome HP:0008191 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1226 Bamforth-Lazarus syndrome HP:0011362 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000528 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000568 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000647 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000776 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000953 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001000 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0004334 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0007957 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0008065 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0010783 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011800 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000278 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000347 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000431 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000445 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000492 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000499 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000598 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000614 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001053 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001639 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001644 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001671 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001999 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0003510 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0004327 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0007703 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0009939 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011531 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011675 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000035 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000036 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000037 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000039 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000047 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000062 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000238 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000252 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000363 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000365 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000501 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000556 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000572 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000618 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000627 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000646 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000682 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000960 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001249 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001250 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001263 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001274 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001328 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001331 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001508 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001510 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001597 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001634 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001653 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001704 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002034 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002094 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002098 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002133 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002300 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002381 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002381 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002878 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0004302 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0004378 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0005180 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0007731 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0007973 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0008665 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0010529 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011027 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011265 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011968 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0000988 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0000989 ORPHA:37748 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0001025 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0001369 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0001744 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0001903 ORPHA:37748 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0001945 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0001974 ORPHA:37748 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0002240 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0002633 ORPHA:37748 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0002653 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0002665 ORPHA:37748 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0002716 ORPHA:37748 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0002829 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0003326 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0003496 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0009830 ORPHA:37748 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0011001 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0012378 ORPHA:37748 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0012733 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37748 Schnitzler syndrome HP:0200034 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000174 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000219 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000431 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000486 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000494 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000577 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000687 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000750 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001156 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001252 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001263 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0011078 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0011220 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0031936 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000028 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000041 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000047 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000256 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000316 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000463 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000592 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000657 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000664 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000998 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001182 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001488 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001655 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001800 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0002079 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0002169 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0002209 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0002558 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0004209 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0006895 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0009778 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0009890 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0011832 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0012081 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0012430 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0012448 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0030048 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0045075 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0000303 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0000455 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0000470 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0000894 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001182 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001256 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001644 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001647 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001659 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001999 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0002553 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0002947 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0003124 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0004322 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0005978 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0011342 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0011822 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0012368 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0025502 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0100817 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0100874 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0200055 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0006846 ORPHA:83601 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000872 ORPHA:83601 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0005318 ORPHA:83601 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000821 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000853 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0001289 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002500 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002902 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0003470 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000709 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000716 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000739 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0001873 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0001945 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0001974 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002017 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002133 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002197 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002315 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0012332 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002721 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0001336 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0007359 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0005991 ORPHA:83601 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002181 ORPHA:83601 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0001298 ORPHA:83600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0002360 ORPHA:83600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0000651 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0001254 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0001268 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0001300 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0001337 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0001945 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0002315 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0002922 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0002960 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0003326 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0003484 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0004429 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0005986 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0007146 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0010702 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0012547 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0025439 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0100660 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0000020 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0000613 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0000709 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0001250 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0001259 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0001662 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0002607 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0002883 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0009763 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83600 Encephalitis lethargica HP:0025258 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0007404 ORPHA:530838 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0007447 ORPHA:530838 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0000958 ORPHA:530838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0001551 ORPHA:530838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0010783 ORPHA:530838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0012203 ORPHA:530838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0001047 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0001598 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0004690 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0006203 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0007446 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0025524 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0032523 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0032541 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0040189 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0000277 ORPHA:1214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0000324 ORPHA:1214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0000347 ORPHA:1214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0007400 ORPHA:1214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0001250 ORPHA:1214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0003011 ORPHA:1214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0008065 ORPHA:1214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0100555 ORPHA:1214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0000490 ORPHA:1214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0000508 ORPHA:1214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1214 Progressive hemifacial atrophy HP:0001100 ORPHA:1214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000219 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000248 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000252 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000286 ORPHA:352530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000311 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000316 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000341 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000377 ORPHA:352530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000431 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000664 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001263 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000851 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001182 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001250 ORPHA:352530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001252 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001321 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001513 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001999 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002047 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002079 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002120 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002123 ORPHA:352530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002265 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002714 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0004209 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0009891 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0007052 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0010864 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0007642 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0011228 ORPHA:352530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0012443 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0000014 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0000072 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0000347 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0000568 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0001376 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0001561 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0001643 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0002007 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0003196 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0008551 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0008736 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0009773 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0010935 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0100490 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0100867 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000076 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000078 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000154 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000175 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000202 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000324 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000359 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000384 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000405 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000407 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000413 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0001177 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0001199 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0030680 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0003458 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0003778 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0004322 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0004397 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0004452 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0004467 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0006511 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0006695 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0006703 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0008056 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0008551 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0008678 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0008706 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0009601 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0009800 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0100335 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0100543 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139426 Perioral myoclonia with absences HP:0002069 ORPHA:139426 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:139426 Perioral myoclonia with absences HP:0010850 ORPHA:139426 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:139426 Perioral myoclonia with absences HP:0002371 ORPHA:139426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139426 Perioral myoclonia with absences HP:0004372 ORPHA:139426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139426 Perioral myoclonia with absences HP:0011168 ORPHA:139426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139426 Perioral myoclonia with absences HP:0012462 ORPHA:139426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139426 Perioral myoclonia with absences HP:0001249 ORPHA:139426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139426 Perioral myoclonia with absences HP:0002121 ORPHA:139426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139426 Perioral myoclonia with absences HP:0002123 ORPHA:139426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139426 Perioral myoclonia with absences HP:0002527 ORPHA:139426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy HP:0001252 ORPHA:1216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy HP:0001387 ORPHA:1216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy HP:0003693 ORPHA:1216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy HP:0004326 ORPHA:1216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy HP:0008964 ORPHA:1216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000529 ORPHA:1215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000648 ORPHA:1215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000407 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000590 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000649 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001488 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0003198 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0003325 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0003737 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0004463 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0012378 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0020119 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0100285 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000763 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001133 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001251 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001258 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001761 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0003438 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0003444 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0007002 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0009830 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0012511 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000819 ORPHA:1215 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001638 ORPHA:1215 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0002076 ORPHA:1215 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000003 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000059 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000076 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000083 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000130 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000175 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000218 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000233 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000248 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000252 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000294 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000343 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000347 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000368 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000400 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000405 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000407 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000453 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000463 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000470 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000486 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000498 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000501 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000518 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000545 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000574 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000639 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000664 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000667 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000684 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000687 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000717 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000722 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000767 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000776 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000786 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000823 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000965 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001249 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001250 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000028 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000047 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000413 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000482 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000508 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000527 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0000739 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001252 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001276 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001385 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001387 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001508 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001511 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001557 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001622 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001629 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001631 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001770 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001773 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001883 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0001956 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002020 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002021 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002119 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002120 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002162 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002167 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002230 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002360 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002553 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002557 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0030680 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002566 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002580 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002714 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002750 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002827 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002974 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0002983 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0040071 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0003042 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0003196 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0004209 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0004322 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0005280 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0007018 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0007360 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0007598 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0007665 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0008736 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0008850 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0008872 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0009623 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0009830 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0010034 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0010300 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0010864 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0010880 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0012165 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:199 Cornelia de Lange syndrome HP:0200055 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0000078 ORPHA:195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0000126 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0000316 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0000365 ORPHA:195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0000384 ORPHA:195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0000494 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0000567 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0000568 ORPHA:195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0000612 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0000772 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0001252 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0001256 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0001385 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0001511 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0002023 ORPHA:195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0030680 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0004322 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0004467 ORPHA:195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0008678 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:195 Cat-eye syndrome HP:0100542 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000239 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000270 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000271 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000929 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000974 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0001249 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0001263 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0001328 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002514 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0005692 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0100777 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000343 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000767 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000768 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000926 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000938 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000939 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000952 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000978 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000987 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0001156 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0001252 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0001396 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002015 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002020 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002033 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002036 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002045 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002578 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002617 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002705 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002748 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002749 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0003019 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0004279 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0004408 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0005293 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0010562 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0012115 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0025270 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0100240 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0100633 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0100699 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000010 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000015 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000023 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000348 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000494 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0000774 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0001385 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0001763 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002208 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002650 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002673 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002797 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002808 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002812 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002827 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002857 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0002991 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0003172 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0003874 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0005743 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0006507 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0006660 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0008818 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0009556 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0100541 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0100874 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:198 Occipital horn syndrome HP:0200021 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000154 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000179 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000189 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000194 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000218 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000232 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000252 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000280 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000286 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000316 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000327 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000407 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000411 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000445 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000463 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000486 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000494 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000518 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000648 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000668 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000684 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000687 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000767 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000768 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0000940 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001156 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001176 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001182 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001249 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001250 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001252 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001276 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001288 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001324 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001500 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001582 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001633 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001646 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001702 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001763 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001804 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0001812 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0002007 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0002119 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0002120 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0002167 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0002191 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0002269 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0002650 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0002750 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0002808 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0002868 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0003202 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0003312 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0004322 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0004493 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0005280 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0005692 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0006288 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0006482 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0007360 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0007370 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0007703 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0008872 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0009193 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0009882 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0009928 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0010049 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0010535 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0011344 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0100613 ORPHA:192 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:192 Coffin-Lowry syndrome HP:0100716 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0000099 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0001824 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0001945 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0002039 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0002829 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0003326 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0005368 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0010876 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0011123 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0011227 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0012649 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0030166 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0031691 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0032018 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0200029 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0410008 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0000093 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0000790 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0000793 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0000822 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0000965 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0001063 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0001369 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0001482 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0001638 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0002011 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0002027 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0002090 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0002140 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0002617 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0002726 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0002923 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0003261 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0003493 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0004386 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0005318 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0005366 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0005401 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0006562 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0006689 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0009830 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0010702 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0011274 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0020101 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0020114 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0020180 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0025143 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0025188 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0030880 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0031363 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0031692 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0031693 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0032166 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0032170 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0032230 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0100778 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48435 Postinfectious vasculitis HP:0100796 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome HP:0000564 ORPHA:139450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome HP:0000612 ORPHA:139450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome HP:0000613 ORPHA:139450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome HP:0008551 ORPHA:139450 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0003477 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0004934 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0005930 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0006482 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0006483 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0008043 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0008197 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0008936 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0011451 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0011471 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0011527 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0012211 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0012804 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0025300 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0025403 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000568 ORPHA:191 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000573 ORPHA:191 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001105 ORPHA:191 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001344 ORPHA:191 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0006349 ORPHA:191 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000253 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000408 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000580 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000708 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001268 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001272 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001510 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0003510 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0004326 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0007266 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0007703 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0008897 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000490 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000518 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000529 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000556 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000670 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000762 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000992 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001250 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001251 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001263 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001288 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001757 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002020 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002059 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002135 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002171 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002213 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002461 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002514 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002545 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002803 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0003202 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0003474 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0003758 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0005781 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0006297 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0007108 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0007141 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0007240 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0007346 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0008872 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0009830 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0011359 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0012372 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0100543 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0100678 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000011 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000020 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000028 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000083 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000089 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000093 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000100 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000122 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000444 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000481 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000486 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000512 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000519 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000522 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000540 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000543 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000546 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000585 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000613 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000616 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000633 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000639 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000648 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000680 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000689 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000819 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000822 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000823 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0000970 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001097 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001249 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001257 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001265 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001276 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001284 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001347 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001612 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0001744 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002080 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002149 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002240 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002345 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002355 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002376 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002509 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002540 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002621 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002650 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002684 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002808 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:191 Cockayne syndrome HP:0002910 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000219 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000316 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000494 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001156 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001256 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001388 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001627 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0009778 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000028 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000086 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000319 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000343 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000426 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000431 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000664 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001629 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001631 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001660 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0002566 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0003083 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0003196 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0004935 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0005852 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0011800 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000028 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000164 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000194 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000212 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000252 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000294 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000322 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000327 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000347 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000384 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000407 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000426 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000486 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000492 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000494 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000499 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000527 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000545 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000568 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000574 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000612 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000639 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000648 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000767 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0000823 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001000 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001135 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001166 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001182 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001249 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001250 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001252 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001263 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001511 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001513 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001531 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001558 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001572 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001612 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001629 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001634 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001852 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0001875 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0002167 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0002650 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0002705 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0002808 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0002857 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0002967 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0003272 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0004209 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0004283 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0004322 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0005692 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0006101 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0007703 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0008872 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0009804 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0009906 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0010295 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0010669 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0011308 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0100874 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:193 Cohen syndrome HP:0200046 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000044 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000347 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000482 ORPHA:48431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000486 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000518 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000527 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000568 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000639 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000763 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000939 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001251 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001256 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001263 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001310 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001511 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001943 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0002080 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0002119 ORPHA:48431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0002120 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0002650 ORPHA:48431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0002808 ORPHA:48431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0003134 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0003319 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0003401 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0004322 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0007002 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0007256 ORPHA:48431 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0008942 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0010620 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0100490 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:190 Coats disease HP:0000486 ORPHA:190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:190 Coats disease HP:0000501 ORPHA:190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:190 Coats disease HP:0000518 ORPHA:190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:190 Coats disease HP:0000541 ORPHA:190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:190 Coats disease HP:0000593 ORPHA:190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:190 Coats disease HP:0001103 ORPHA:190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:190 Coats disease HP:0008046 ORPHA:190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:190 Coats disease HP:0008053 ORPHA:190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1203 Duodenal atresia HP:0001561 ORPHA:1203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1203 Duodenal atresia HP:0001732 ORPHA:1203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1203 Duodenal atresia HP:0001734 ORPHA:1203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1203 Duodenal atresia HP:0002247 ORPHA:1203 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1203 Duodenal atresia HP:0004414 ORPHA:1203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1202 Larynx atresia HP:0001601 ORPHA:1202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1202 Larynx atresia HP:0001608 ORPHA:1202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1202 Larynx atresia HP:0002093 ORPHA:1202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1202 Larynx atresia HP:0002205 ORPHA:1202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1202 Larynx atresia HP:0030680 ORPHA:1202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1202 Larynx atresia HP:0004322 ORPHA:1202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000286 ORPHA:2536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000311 ORPHA:2536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000482 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000501 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000505 ORPHA:2536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000929 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000982 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0002688 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0012368 ORPHA:2536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0100789 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1201 Atresia of small intestine HP:0004322 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1201 Atresia of small intestine HP:0005235 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1201 Atresia of small intestine HP:0011968 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1201 Atresia of small intestine HP:0025015 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1201 Atresia of small intestine HP:0005245 ORPHA:1201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1201 Atresia of small intestine HP:0001508 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1201 Atresia of small intestine HP:0001511 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1201 Atresia of small intestine HP:0002013 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1201 Atresia of small intestine HP:0002566 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1201 Atresia of small intestine HP:0003270 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0000174 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0000316 ORPHA:1200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0000426 ORPHA:1200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0000431 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0000478 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0000504 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0001671 ORPHA:1200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0003196 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0004322 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0004502 ORPHA:1200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1200 Burn-McKeown syndrome HP:0012745 ORPHA:1200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001508 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001510 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001743 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002020 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002036 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002818 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0009778 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0011968 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0100633 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0100841 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000003 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000110 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0005916 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001167 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001357 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002007 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0003063 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0005988 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0011220 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000085 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000104 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000143 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000528 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000568 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001274 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001331 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001631 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001660 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002023 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002032 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002101 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002139 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002240 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002536 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002566 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002575 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0003042 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0004050 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0004736 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0004871 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0006660 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0008678 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0009827 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0009829 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0012165 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0025023 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0030680 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0100257 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001260 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001269 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001290 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001300 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001332 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001337 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0002067 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0006801 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0006956 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0011331 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0012444 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0012768 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0100556 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0000716 ORPHA:306669 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0002355 ORPHA:306669 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0002650 ORPHA:306669 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0100308 ORPHA:306669 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001999 ORPHA:488642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0002141 ORPHA:488642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0010864 ORPHA:488642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0011344 ORPHA:488642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0011451 ORPHA:488642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000365 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001156 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001250 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001257 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001344 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0002465 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0002540 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0004322 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0004692 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0008947 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0011968 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0030084 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0030962 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0100022 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0100704 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000081 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000175 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000308 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000316 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000510 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000519 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000582 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000592 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000768 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001182 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001251 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001276 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001388 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001511 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001583 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001734 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001773 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001800 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001838 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001845 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0002714 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0002751 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0003273 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0004209 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0006380 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0006979 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0007598 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0008513 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0008780 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0010296 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0020045 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0200055 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1209 Tricuspid atresia HP:0011662 ORPHA:1209 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1209 Tricuspid atresia HP:0000961 ORPHA:1209 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1209 Tricuspid atresia HP:0001629 ORPHA:1209 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1209 Tricuspid atresia HP:0001631 ORPHA:1209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1209 Tricuspid atresia HP:0001655 ORPHA:1209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1209 Tricuspid atresia HP:0001669 ORPHA:1209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1209 Tricuspid atresia HP:0004762 ORPHA:1209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1209 Tricuspid atresia HP:0005301 ORPHA:1209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1209 Tricuspid atresia HP:0001680 ORPHA:1209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1209 Tricuspid atresia HP:0004935 ORPHA:1209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome HP:0001622 ORPHA:1208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome HP:0001643 ORPHA:1208 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome HP:0001702 ORPHA:1208 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome HP:0004935 ORPHA:1208 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome HP:0009800 ORPHA:1208 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0003764 ORPHA:35125 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0000953 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0001010 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0002176 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0003416 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0006827 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0007199 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0012531 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0000483 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0000505 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0000750 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0001263 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0001276 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0001284 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0002944 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0003487 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0009077 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0010302 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0012032 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0012443 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0000113 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0000938 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0004942 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0001999 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0002859 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35125 Epidermal nevus syndrome HP:0100512 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35122 Congenital sucrase-isomaltase deficiency HP:0002014 ORPHA:35122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35122 Congenital sucrase-isomaltase deficiency HP:0002013 ORPHA:35122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35122 Congenital sucrase-isomaltase deficiency HP:0003270 ORPHA:35122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35122 Congenital sucrase-isomaltase deficiency HP:0011848 ORPHA:35122 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000174 ORPHA:2533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000232 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000252 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000286 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000324 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000347 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000369 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000378 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000384 ORPHA:2533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000407 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000411 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0001249 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0002057 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0002167 ORPHA:2533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0004322 ORPHA:2533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000708 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001260 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002015 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002059 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002071 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002376 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0007256 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0030890 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000252 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001250 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001257 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001263 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001332 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001344 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002066 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002187 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002353 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002381 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002540 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0010864 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000718 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000729 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000752 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000768 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002072 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002079 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002119 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002509 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002808 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0007328 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0008947 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0011471 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0100710 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0000653 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0000972 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0000982 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0001596 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0008070 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0008404 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0045075 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0000365 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0000953 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0001072 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0001792 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0001798 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0002209 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0002213 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0002215 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0002221 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0002223 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0002225 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0002555 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0004528 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0004779 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0005599 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0008383 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0011911 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0031288 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0045059 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189 Hidrotic ectodermal dysplasia HP:0100759 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0001974 ORPHA:188 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0010741 ORPHA:188 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0001733 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0001824 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0002014 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0002027 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0002615 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0003326 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0012378 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0025142 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0031417 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0100598 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0000083 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0000091 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0001701 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0002202 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0004936 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0006543 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0006775 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0011675 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0012735 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0012819 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:188 Systemic capillary leak syndrome HP:0100520 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001627 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001629 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001631 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001635 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001651 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001680 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0002088 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0002089 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0004971 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0005345 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0030680 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001636 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001643 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001719 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001750 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0002092 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0002098 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0002205 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0004383 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0010772 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0010773 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0011560 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0012382 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0012735 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0025495 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0040044 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0040045 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0100632 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0100730 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0100790 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0000119 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0000925 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0001660 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0002107 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0011638 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0011662 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0011670 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0011671 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:185 Scimitar syndrome HP:0012722 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0000164 ORPHA:184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0000277 ORPHA:184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0000293 ORPHA:184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0000505 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0000520 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0000529 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0000648 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0000677 ORPHA:184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0001608 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0002781 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0002870 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0006482 ORPHA:184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0008872 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0012062 ORPHA:184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:184 Cherubism HP:0012802 ORPHA:184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000161 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000204 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000277 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000309 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000326 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000699 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401942 Familial median cleft of the upper and lower lips HP:0010281 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401942 Familial median cleft of the upper and lower lips HP:0012292 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401942 Familial median cleft of the upper and lower lips HP:0040079 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401942 Familial median cleft of the upper and lower lips HP:3000010 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0000952 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0000989 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0001278 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0001395 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0001399 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0001402 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0001409 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0002841 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0002960 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0003119 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0003155 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0003493 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0003496 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0011040 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0012203 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0000939 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0001262 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0001541 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0002360 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0002608 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0003073 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0003261 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0003270 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0012115 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0012378 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0004386 ORPHA:186 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0000953 ORPHA:186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0001394 ORPHA:186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0002613 ORPHA:186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0002908 ORPHA:186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0011971 ORPHA:186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:186 Primary biliary cholangitis HP:0000820 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000175 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000176 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000193 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000252 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000278 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000347 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001249 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001257 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001274 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001276 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001331 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001508 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001510 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001511 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0002063 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0003510 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0003552 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0011968 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000160 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000363 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000366 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000368 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000369 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000486 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000639 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001250 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0002119 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0002133 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0003196 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0005280 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0009748 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000062 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000104 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000238 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000256 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000286 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0000494 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001302 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001339 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001643 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001744 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001840 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0001883 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0002007 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0002126 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0002269 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0002536 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0002566 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0002983 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0004334 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0007227 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0008065 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0008678 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0010772 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0011001 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0011002 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35107 Desmosterolosis HP:0011220 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000232 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000457 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000684 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000691 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000822 ORPHA:181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000830 ORPHA:181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000966 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0008070 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0002007 ORPHA:181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0002231 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0009882 ORPHA:181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0010803 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0100651 ORPHA:181 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0100840 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:180 Choroideremia HP:0000478 ORPHA:180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:180 Choroideremia HP:0000504 ORPHA:180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:180 Choroideremia HP:0000505 ORPHA:180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:180 Choroideremia HP:0000512 ORPHA:180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:180 Choroideremia HP:0000529 ORPHA:180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:180 Choroideremia HP:0000545 ORPHA:180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:180 Choroideremia HP:0000662 ORPHA:180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:180 Choroideremia HP:0007703 ORPHA:180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000083 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000093 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000246 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000790 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000822 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000965 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000979 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000988 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001025 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001053 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001063 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001288 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001369 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001482 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001635 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001639 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001658 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001697 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001824 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001880 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001945 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001970 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002015 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002017 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002020 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002024 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002027 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002093 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002099 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002103 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002105 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002113 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002326 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002633 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002829 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002960 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0003326 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0004374 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0004936 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0005214 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0006535 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0006824 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0007009 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0009830 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0012378 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0012649 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0012735 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0012819 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0100582 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0100584 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0100614 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0100820 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0200034 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0001297 ORPHA:401945 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0000822 ORPHA:401945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0011834 ORPHA:401945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0100659 ORPHA:401945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0000965 ORPHA:401945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0001873 ORPHA:401945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0030402 ORPHA:401945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0030880 ORPHA:401945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0000989 ORPHA:182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0002814 ORPHA:182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0000962 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0000969 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0001004 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0001482 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0001760 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0003550 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0012500 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0025474 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0025475 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0025527 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0025528 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0040009 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0045059 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0000987 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0001053 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0002718 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0002817 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0011276 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0031842 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0000163 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0000491 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0000656 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0001097 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0002088 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0002721 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0002797 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0002860 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0007606 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0011334 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0031013 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:182 Chromomycosis HP:0500043 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001250 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001266 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001320 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001321 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002123 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002360 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0006850 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0011344 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0011968 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0031162 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0000253 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0000340 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001270 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002020 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002033 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002104 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002268 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002365 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002719 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0007663 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0012469 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0200136 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001257 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002079 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002119 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002536 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0003487 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0003558 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0006895 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0006989 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0007598 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0009062 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0011171 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0011471 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0012765 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0025190 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0100704 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0200049 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002350 ORPHA:2524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001999 ORPHA:2524 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0001249 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0001263 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0001270 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0002061 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0002352 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0010576 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0000252 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0000407 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0000486 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0001344 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0002169 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0003487 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0004302 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0009062 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0007731 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0007973 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0009891 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0010310 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0012471 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0012490 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0040189 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0100658 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0100758 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0200042 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000252 ORPHA:2526 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000478 ORPHA:2526 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000504 ORPHA:2526 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001004 ORPHA:2526 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000545 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000969 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001249 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001252 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001263 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001328 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001595 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001820 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0007703 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0008388 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0100644 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000286 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000293 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000307 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000340 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000343 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000411 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000431 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000445 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000463 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000488 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000492 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000499 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000501 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000508 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000518 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000528 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000541 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000556 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000568 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000572 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000582 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000587 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000614 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000618 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000646 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000648 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000958 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001055 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001072 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001250 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001257 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001276 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001482 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001631 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001909 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0002063 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0002133 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0002202 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0002665 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0003510 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0003552 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0004936 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000135 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000160 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000218 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000248 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000252 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000278 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000286 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000482 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000518 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000568 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000582 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0001510 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0002191 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0004322 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0010864 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0003458 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0003557 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0003707 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0001761 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0008954 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0009005 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0009063 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0030089 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0040081 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0002312 ORPHA:488650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0003124 ORPHA:488650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0003760 ORPHA:488650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0008962 ORPHA:488650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0000467 ORPHA:488650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0001962 ORPHA:488650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0003326 ORPHA:488650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0001284 ORPHA:488650 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:488650 Distal myopathy, Tateyama type HP:0002936 ORPHA:488650 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000175 ORPHA:2521 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000176 ORPHA:2521 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000193 ORPHA:2521 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000252 ORPHA:2521 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000278 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000303 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000347 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0001249 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0001263 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0001328 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0007703 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0100490 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000047 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000069 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000252 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000340 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000347 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000369 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000444 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000470 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000508 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000520 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000767 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000772 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000889 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0001256 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0001347 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0002167 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0002176 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0002808 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0002949 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0003272 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0003307 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0004312 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0004322 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0006482 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0010620 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0012371 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0000252 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0001257 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0001360 ORPHA:2523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0001939 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0002120 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0100543 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401953 Episodic ataxia with slurred speech HP:0001324 ORPHA:401953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401953 Episodic ataxia with slurred speech HP:0001350 ORPHA:401953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401953 Episodic ataxia with slurred speech HP:0002172 ORPHA:401953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:401953 Episodic ataxia with slurred speech HP:0000639 ORPHA:401953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401953 Episodic ataxia with slurred speech HP:0001260 ORPHA:401953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401953 Episodic ataxia with slurred speech HP:0001337 ORPHA:401953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401953 Episodic ataxia with slurred speech HP:0002066 ORPHA:401953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401953 Episodic ataxia with slurred speech HP:0012547 ORPHA:401953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:401953 Episodic ataxia with slurred speech HP:0002076 ORPHA:401953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:401953 Episodic ataxia with slurred speech HP:0002411 ORPHA:401953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000028 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000218 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000252 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000407 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000482 ORPHA:139471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000518 ORPHA:139471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000528 ORPHA:139471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000545 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000556 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000567 ORPHA:139471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000568 ORPHA:139471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000612 ORPHA:139471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000639 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000647 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000864 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0001250 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0001263 ORPHA:139471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0001274 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0001830 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0002164 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0006101 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0007068 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0009623 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0001260 ORPHA:458803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0001317 ORPHA:458803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002317 ORPHA:458803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0012759 ORPHA:458803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000012 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000716 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0001152 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0001272 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002015 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002064 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002066 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0003487 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0006855 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0006938 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0007979 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0031166 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000020 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000486 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000571 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000639 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000651 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000802 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002321 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002322 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002346 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002511 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002650 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0003765 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0007351 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0007366 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0012708 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:458803 Spinocerebellar ataxia type 42 HP:0030890 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001249 ORPHA:500150 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001263 ORPHA:500150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001999 ORPHA:500150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0012443 ORPHA:500150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000119 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000486 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000540 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000729 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001382 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001511 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001531 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002079 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002119 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002197 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002538 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0003508 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0008872 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0008947 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0010864 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000085 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000122 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000175 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000193 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000233 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000286 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000293 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000319 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000322 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000324 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000327 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000341 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000365 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000369 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000411 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000431 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000490 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000494 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000529 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000545 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000565 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000577 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000592 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000609 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000639 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000648 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000891 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000902 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001027 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001166 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001257 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001627 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001631 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002007 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002015 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002020 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002028 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002097 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002121 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002126 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002140 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002212 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002283 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002308 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002326 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002376 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002500 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002578 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002579 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002714 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002719 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002751 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002878 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002937 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002938 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0003100 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0003196 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0004315 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0004433 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0004442 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0004482 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0005280 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0005639 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0006956 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0006970 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0006989 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0007100 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0007933 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0008765 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0009777 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0009879 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0010485 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011220 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011330 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011467 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011471 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011648 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011819 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0012582 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0025116 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0030707 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0045075 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0100307 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0100702 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0100704 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0430021 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0000053 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0000233 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0000252 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0000272 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0045075 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0000653 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0000682 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0000750 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0001249 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0001250 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0001263 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0004322 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0004411 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0006297 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0009928 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139474 17q11.2 microduplication syndrome HP:0011803 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0000252 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0000347 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0001010 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0007730 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0009882 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0010185 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0001263 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2514 Autosomal dominant primary microcephaly HP:0000252 ORPHA:2514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2514 Autosomal dominant primary microcephaly HP:0000411 ORPHA:2514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2514 Autosomal dominant primary microcephaly HP:0000666 ORPHA:2514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2514 Autosomal dominant primary microcephaly HP:0001137 ORPHA:2514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2514 Autosomal dominant primary microcephaly HP:0004322 ORPHA:2514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2514 Autosomal dominant primary microcephaly HP:0009804 ORPHA:2514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0000252 ORPHA:2515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001249 ORPHA:2515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001644 ORPHA:2515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0100543 ORPHA:2515 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0000356 ORPHA:2515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001852 ORPHA:2515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0004209 ORPHA:2515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0004322 ORPHA:2515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0000340 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001250 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001511 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001629 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0002119 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0002705 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0007703 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000252 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001511 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001629 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0002101 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0100543 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000104 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000175 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000347 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000383 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000430 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000465 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000470 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000581 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001252 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001387 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001660 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001679 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0002705 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0004467 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0006610 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0007598 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0008678 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0009882 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001249 ORPHA:500159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001263 ORPHA:500159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000252 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000708 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000733 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001250 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001270 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001344 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001627 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002465 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0008872 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0008947 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0011968 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000028 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000047 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000194 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000256 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000363 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000403 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000407 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000426 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000463 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000819 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000964 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001321 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001357 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001388 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001537 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001629 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001643 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001647 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001655 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001999 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002079 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002119 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002126 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002280 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002365 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002518 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002553 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002650 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002786 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0003086 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0006532 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0007033 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0008527 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0009237 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0009765 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0030515 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0200007 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000252 ORPHA:2518 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000307 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000340 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000411 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000431 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000463 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000486 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000499 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000505 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000639 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000648 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0001249 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0001250 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0001276 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0001511 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0002120 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0002269 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0002650 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0004322 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0004422 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0007360 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0007703 ORPHA:2518 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000054 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000851 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001249 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001250 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001263 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001631 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0006934 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0008947 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000028 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000252 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000286 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000565 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000766 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000772 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000773 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000885 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001162 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001629 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001643 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0002079 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0002092 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0002098 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0002558 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0005989 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000028 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000060 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000064 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000126 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000218 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000252 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000322 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000347 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000368 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000400 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000431 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000463 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000480 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000482 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000518 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000568 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000648 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000649 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0000823 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0001250 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0001252 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0001257 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0001263 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0001302 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0001317 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0001320 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0001339 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0001387 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0001511 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0002120 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0002230 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0002650 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0002808 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0003196 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0004322 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0007370 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0007703 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0008736 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0009830 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0010864 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0100542 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2510 Micro syndrome HP:0100704 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000239 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000248 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000252 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000270 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000272 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000275 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000276 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000303 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000364 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000446 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000486 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000508 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000598 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000601 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000767 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001156 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0005916 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001167 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001172 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001249 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001263 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001328 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0002650 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0003019 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0003172 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0003510 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0004279 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0005469 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0007598 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0008818 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0009721 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0009891 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0010668 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0100333 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0003307 ORPHA:2511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0010579 ORPHA:2511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0004322 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0011020 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0012758 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000278 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000286 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000405 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000407 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000431 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000677 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000691 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0002300 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0002650 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0002750 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0002901 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0002942 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0003090 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0003307 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0005280 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0006297 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0006989 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0007042 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0009237 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0009928 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0010663 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0010761 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0030084 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0100255 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000121 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000164 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000280 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000365 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000501 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000519 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0000599 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0001297 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0001328 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0001999 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557003 Oculoskeletodental syndrome HP:0003072 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0000219 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0000252 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0000340 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0000582 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0001263 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0001510 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0002282 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0004322 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0010864 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0000076 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0000122 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0001274 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0001302 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0001347 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0002119 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0003103 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2512 Autosomal recessive primary microcephaly HP:0007333 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0001256 ORPHA:500166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0001999 ORPHA:500166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0410263 ORPHA:500166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000365 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000729 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000924 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0001382 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0002119 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0032059 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0040195 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000164 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000722 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000736 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0001250 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0001808 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0002213 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0002500 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0002750 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0006989 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0030084 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0000280 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0000325 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0000414 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0000448 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0000581 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0001249 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0008947 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0009928 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0002480 ORPHA:529808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0003265 ORPHA:529808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0006579 ORPHA:529808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0006958 ORPHA:529808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0000407 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0000502 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0001249 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0001250 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0001276 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0001343 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0001878 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0001945 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0002871 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0003073 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0011968 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0012696 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0032106 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0100021 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0003228 ORPHA:529808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0025518 ORPHA:529808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529808 Chronic bilirubin encephalopathy HP:0040187 ORPHA:529808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0000405 ORPHA:2502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001256 ORPHA:2502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0100255 ORPHA:2502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0000403 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001169 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001388 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001769 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001773 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001964 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0002868 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0002970 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0002979 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0003015 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0003016 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0003026 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0003085 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0004279 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0006009 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0006413 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0006417 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0008110 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0008873 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0009760 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0100255 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0100864 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0000486 ORPHA:2502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0000540 ORPHA:2502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0000104 ORPHA:139466 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0001510 ORPHA:139466 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0001562 ORPHA:139466 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0002089 ORPHA:139466 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0012245 ORPHA:139466 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0000036 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0000047 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0000202 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0000776 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0000834 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0001629 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0001642 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0004794 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0005343 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139466 SERKAL syndrome HP:0030680 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000023 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000028 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000045 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000046 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000047 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000175 ORPHA:2505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000252 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000271 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000286 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000343 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000347 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000368 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000482 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000488 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000568 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000969 ORPHA:2505 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0001072 ORPHA:2505 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0001249 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0001263 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0001537 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0001635 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0002230 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0003011 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0004322 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0006768 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0007400 ORPHA:2505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0007522 ORPHA:2505 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0008572 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0100559 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0100560 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95626 Acquired central diabetes insipidus HP:0000873 ORPHA:95626 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95626 Acquired central diabetes insipidus HP:0001824 ORPHA:95626 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95626 Acquired central diabetes insipidus HP:0001959 ORPHA:95626 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95626 Acquired central diabetes insipidus HP:0100515 ORPHA:95626 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000023 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000047 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000110 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000252 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000280 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000411 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000486 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000639 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0001250 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0001257 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0001274 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0002120 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0002230 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0002445 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0002650 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0003272 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0004322 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0008678 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0010720 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0010864 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0011344 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0005987 ORPHA:276399 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0002671 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0005584 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0100528 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0100615 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0100617 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0100619 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0200063 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0002890 ORPHA:276399 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0006779 ORPHA:276399 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0007129 ORPHA:276399 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0030071 ORPHA:276399 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0030434 ORPHA:276399 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276399 Familial multinodular goiter HP:0000836 ORPHA:276399 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0000347 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0000444 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0000951 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0000963 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0001249 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0001773 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0002213 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0002650 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0002652 ORPHA:2500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0004322 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0005692 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0007392 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0007400 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0007495 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0008065 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0100578 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0100585 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0200042 ORPHA:2500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2500 Acrogeria HP:0200055 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0000164 ORPHA:2501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0000670 ORPHA:2501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0000944 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0001288 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0001385 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0002650 ORPHA:2501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0002750 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0002970 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0003307 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0003498 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0004349 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0005871 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0005930 ORPHA:2501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0006385 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0006409 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0006487 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0100255 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0011923 ORPHA:2609 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0000114 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0000407 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0000486 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0000508 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0000543 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0000639 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0000817 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001138 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001251 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001252 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001254 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001263 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001298 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001324 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001508 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001511 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001639 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0001943 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0002013 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0002093 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0002240 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0002352 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0002415 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0002421 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0002490 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0003128 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0003542 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0003737 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0007704 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0008316 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0012748 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0000252 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0000618 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0000819 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0011968 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2609 Isolated complex I deficiency HP:0025116 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0000952 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001399 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001518 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001622 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001744 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0002027 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0002240 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0002910 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0003077 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0003155 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0004359 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0006560 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0011113 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0011473 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0030948 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0032245 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001081 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001394 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001395 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001397 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001409 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0002908 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0000269 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0000324 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0000478 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0000504 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0000506 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0000568 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0000612 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0000995 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0001048 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0001249 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0001250 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0001252 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0001305 ORPHA:2612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0001315 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0001347 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0001357 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0001510 ORPHA:2612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0001596 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0002007 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0002119 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0002132 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0002353 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0002514 ORPHA:2612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0002816 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0003422 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0004422 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0007360 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0007370 ORPHA:2612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0007400 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0009720 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2612 Linear nevus sebaceus syndrome HP:0100555 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2613 Nail-patella-like renal disease HP:0000083 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2613 Nail-patella-like renal disease HP:0000093 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2613 Nail-patella-like renal disease HP:0000822 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2613 Nail-patella-like renal disease HP:0002907 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2613 Nail-patella-like renal disease HP:0004322 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2613 Nail-patella-like renal disease HP:0100820 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0025186 ORPHA:91412 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0000486 ORPHA:91412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0000646 ORPHA:91412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0007687 ORPHA:91412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0010824 ORPHA:91412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0025584 ORPHA:91412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0008897 ORPHA:91412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0012758 ORPHA:91412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0012803 ORPHA:91412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0020041 ORPHA:91412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0031747 ORPHA:91412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0000078 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0000175 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0000453 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0000589 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0000787 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0001627 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0004408 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0025514 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0031703 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91412 Marcus-Gunn syndrome HP:0410030 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0001597 ORPHA:2614 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0011297 ORPHA:2614 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0000077 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0001369 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0001371 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0001763 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0002019 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0002815 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0002987 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0003199 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0003418 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0008034 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0008110 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0009780 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0009811 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0012718 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0100798 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0000083 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0000093 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0000100 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0000123 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0000348 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0000478 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0000767 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0000790 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0000939 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0001250 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0001377 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0001762 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0001771 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0001772 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0001884 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0002650 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0002823 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0002938 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0002967 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0002992 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0002999 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0003045 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0003065 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0003083 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0003302 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0003304 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0003774 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0004209 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0004349 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0004722 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0005190 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0006297 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0006380 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0006394 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0006443 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0007328 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0007906 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0008007 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0008124 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0009697 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0009760 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0009781 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0009890 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0010829 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0010886 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0012108 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0030839 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0031006 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0031910 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0030051 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0045086 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0100797 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0002597 ORPHA:2614 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0005290 ORPHA:2614 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2614 Nail-patella syndrome HP:0006702 ORPHA:2614 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91414 Pilomatrixoma HP:0030434 ORPHA:91414 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:91414 Pilomatrixoma HP:0001482 ORPHA:91414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91414 Pilomatrixoma HP:0012288 ORPHA:91414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91414 Pilomatrixoma HP:0010766 ORPHA:91414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91414 Pilomatrixoma HP:0000989 ORPHA:91414 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91414 Pilomatrixoma HP:0033559 ORPHA:91414 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000047 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000144 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000232 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000268 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000307 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000325 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000337 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000343 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000411 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000414 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000463 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000470 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000574 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000682 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000684 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000883 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000888 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0000944 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0001374 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0001511 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0001838 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0002007 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0002650 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0002750 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0002808 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0002983 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0003022 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0003100 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0003173 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0003175 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0003307 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0003691 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0004209 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0004322 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0004570 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0005692 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0008839 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0009811 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0010306 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0011800 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0100625 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2616 3M syndrome HP:0100659 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000028 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000174 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000252 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000347 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000368 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000444 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000508 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000670 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000958 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000975 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0001249 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0001276 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0001347 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002162 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002216 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002353 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002650 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002808 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0003422 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0003510 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0004349 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0004399 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0006610 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0007477 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0007495 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0009721 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0010807 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0011362 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0100578 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002293 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91416 Isolated congenital alacrima HP:0000522 ORPHA:91416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91416 Isolated congenital alacrima HP:0000491 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91416 Isolated congenital alacrima HP:0000508 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91416 Isolated congenital alacrima HP:0000509 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91416 Isolated congenital alacrima HP:0000613 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91416 Isolated congenital alacrima HP:0007732 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91416 Isolated congenital alacrima HP:0009743 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91416 Isolated congenital alacrima HP:0200020 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91416 Isolated congenital alacrima HP:0007820 ORPHA:91416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91416 Isolated congenital alacrima HP:0002571 ORPHA:91416 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0000926 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0000938 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0001831 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0002654 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0002829 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003028 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003368 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003510 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0005086 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0005872 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0008843 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0001376 ORPHA:2619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003019 ORPHA:2619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003940 ORPHA:2619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0009742 ORPHA:2619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0032153 ORPHA:2619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003179 ORPHA:2619 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0002960 ORPHA:2619 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0012649 ORPHA:2619 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0001477 ORPHA:91411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0007687 ORPHA:91411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0007911 ORPHA:91411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0007946 ORPHA:91411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000483 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000486 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000539 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000545 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000646 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0007663 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0009058 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0012803 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000506 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000527 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000537 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000540 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000602 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000957 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0000970 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0001250 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0001491 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0001999 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0002003 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0005487 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0006837 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0007188 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0007544 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0007728 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0008209 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91411 Congenital ptosis HP:0012758 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0000077 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0000256 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0000481 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0000486 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0000518 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0000612 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0000929 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0000962 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0001250 ORPHA:2611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0001268 ORPHA:2611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0001305 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0001770 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0001883 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0002119 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0002650 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0002652 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0002816 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0004349 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0007370 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0008060 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0009592 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0010049 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0100006 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0000488 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0002148 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0002209 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2611 Linear verrucous nevus syndrome HP:0012500 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0009073 ORPHA:254361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001270 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002359 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003202 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003236 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003325 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003391 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003458 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003551 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003749 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002505 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0040287 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001263 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001284 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001488 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001611 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001771 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002015 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002194 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003324 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0008981 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0009053 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0025435 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0040266 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0430025 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001626 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002086 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002206 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002875 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0004631 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0011712 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0011950 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0100750 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0000951 ORPHA:254361 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0030208 ORPHA:254361 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000581 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0001181 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0001250 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0002521 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0008947 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0010864 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0011343 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0011451 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0100587 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000185 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000278 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000293 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000311 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000319 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000322 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000358 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000391 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000395 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000414 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000437 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000448 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000807 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0001562 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0002190 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0002339 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0005274 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0006191 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0006956 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0006970 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0009928 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0010761 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0011251 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0001369 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0001387 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0002355 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0002829 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0005187 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0005194 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0010219 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0010630 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0010741 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0025238 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0040034 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0040188 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0100039 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0100662 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0100925 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0010672 ORPHA:564003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0010885 ORPHA:564003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0008089 ORPHA:564003 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0040035 ORPHA:564003 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000021 ORPHA:2604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000072 ORPHA:2604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000076 ORPHA:2604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000175 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000252 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000311 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000337 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000347 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000368 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000426 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000463 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000774 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0000843 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0001166 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0001387 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0001537 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0001798 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0002251 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0030680 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0003270 ORPHA:2604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0003363 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0010318 ORPHA:2604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2604 Familial visceral myopathy HP:0100490 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0000028 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0000047 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0000485 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0000492 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0000505 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0001249 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0001257 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0001263 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0005517 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0008619 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2608 N syndrome HP:0012372 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0000252 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0000717 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0000718 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0001249 ORPHA:254351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0001250 ORPHA:254351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0001328 ORPHA:254351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0001631 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0001643 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0002132 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0002308 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0007018 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0007302 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0001249 ORPHA:313892 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0001270 ORPHA:313892 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000750 ORPHA:313892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0430028 ORPHA:313892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000189 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000486 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000545 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000577 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000648 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000678 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000739 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000768 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0001252 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002007 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002711 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002938 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002948 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0004691 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0005659 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0012443 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000078 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000718 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000733 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0001250 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0001653 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002020 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002650 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0003316 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0007018 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0011968 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0100716 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0002979 ORPHA:156728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0004322 ORPHA:156728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0009826 ORPHA:156728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0001377 ORPHA:156728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0002515 ORPHA:156728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0002938 ORPHA:156728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0008873 ORPHA:156728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0000767 ORPHA:156728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0003037 ORPHA:156728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0005257 ORPHA:156728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0012368 ORPHA:156728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0010831 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002169 ORPHA:319199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0007350 ORPHA:319199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000750 ORPHA:319199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000768 ORPHA:319199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002808 ORPHA:319199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0005692 ORPHA:319199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0200049 ORPHA:319199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000365 ORPHA:319199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002451 ORPHA:319199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002495 ORPHA:319199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000252 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000372 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0001508 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002119 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002539 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0000704 ORPHA:75392 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0001034 ORPHA:75392 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0001075 ORPHA:75392 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0004322 ORPHA:75392 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0000212 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0000691 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0000974 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0005692 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0006308 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0006349 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0000347 ORPHA:75392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0006323 ORPHA:75392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000347 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000388 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000926 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0002750 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000938 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000939 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0100255 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000975 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0001288 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0009926 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0004322 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0001595 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0001812 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0002355 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0002656 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0002815 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0003025 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0003045 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0003084 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0003886 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0006482 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0007642 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0008110 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0008124 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0008404 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0008394 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0012542 ORPHA:319195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0030055 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002126 ORPHA:300573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002539 ORPHA:300573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0100543 ORPHA:300573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0000252 ORPHA:300573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001249 ORPHA:300573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001263 ORPHA:300573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001269 ORPHA:300573 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0000486 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001250 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001272 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001273 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001302 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002079 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002282 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002339 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002363 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002389 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0006956 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0007018 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0012650 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0007301 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0007359 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0008947 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0012110 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0012377 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0025102 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0025160 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001274 ORPHA:300573 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001339 ORPHA:300573 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0010636 ORPHA:300573 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0000764 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0002143 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0002936 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0004359 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0007199 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0009053 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0030177 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0031064 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0040078 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0000849 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0001000 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0001257 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0001347 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0002064 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0002213 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0002607 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0002839 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0003487 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0006827 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0007006 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0007266 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0007372 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0008167 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0008969 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0009830 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0010284 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0011749 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0012378 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0030014 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0031845 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0040307 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0100291 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0100639 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0100816 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0410263 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0000012 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0000016 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0000020 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0000708 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0000846 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0001260 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0002292 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0002354 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0003418 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0004302 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0008207 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0012534 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0100502 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139399 Adrenomyeloneuropathy HP:0100543 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0003089 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0007034 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0007663 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0010527 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0010794 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0011448 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0030222 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0031993 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0040288 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0045084 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000618 ORPHA:139396 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002540 ORPHA:139396 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0031358 ORPHA:139396 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002518 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0003477 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0004302 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0004359 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0007141 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0012501 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000026 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000317 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000365 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000657 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000736 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000752 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001250 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001251 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001260 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001269 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001285 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001288 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001289 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001310 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002015 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002061 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002167 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002186 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002354 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002355 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001268 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002196 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0007162 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0007305 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0008163 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0008167 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0008207 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0009830 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000708 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001328 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002143 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002283 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001250 ORPHA:300570 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001263 ORPHA:300570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000486 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000496 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000565 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000639 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001249 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001257 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001321 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001338 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001339 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001488 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002079 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002126 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002194 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002334 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002365 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002465 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002474 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002497 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002540 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0007260 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0008872 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0008897 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0009062 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0009879 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0010862 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0011344 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0025336 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000218 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000256 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000286 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000347 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000369 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000407 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000473 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000494 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000570 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000572 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000609 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000657 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000733 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000735 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000736 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001260 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001264 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001320 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001332 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001357 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001388 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001491 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000712 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001773 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001840 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002134 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002343 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002510 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002751 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002857 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002943 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002967 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0005216 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0005469 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0006956 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0007048 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0008619 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0010663 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0011451 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0012332 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0012434 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0012697 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0025101 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0030302 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0030534 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0030903 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0007359 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0040326 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0100785 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0200055 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000059 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000160 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000293 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000368 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000407 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000486 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000494 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000527 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000556 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000574 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000637 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000648 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000687 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000691 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001182 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001488 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001511 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001602 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001686 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001799 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001822 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0003186 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0008757 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0009183 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0009537 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0009600 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0010066 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0010193 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0010864 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0011304 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0011968 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0012471 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000048 ORPHA:324540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000064 ORPHA:324540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000046 ORPHA:324540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0001376 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0002987 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0003019 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0003020 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0003306 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0004934 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0005116 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0005922 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0006135 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0006248 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0008800 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0011004 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0025015 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0030680 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0001167 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0001760 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0002815 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0002942 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0004417 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0009811 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0010833 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0012531 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0030314 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0030834 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0030839 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0000961 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0000980 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0001832 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0003207 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0003276 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98028 Rare circulatory system disease HP:0008081 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000089 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000232 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000343 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000377 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000463 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000582 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001162 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001252 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001321 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001511 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001596 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001629 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001631 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0002208 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0002299 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0004322 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0004415 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0005280 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0006610 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0006817 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0008404 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0011344 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0011747 ORPHA:75389 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0011757 ORPHA:75389 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000369 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000411 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000750 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001249 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001263 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001290 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001999 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0002079 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0002194 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0006863 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0008468 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0008472 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0008897 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000218 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000276 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000307 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000336 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000343 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000365 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000389 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000463 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000486 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000494 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000729 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001382 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0002342 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0200136 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000219 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000252 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000286 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000347 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000414 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000455 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000490 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000527 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000574 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000664 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001250 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001264 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001332 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001337 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001513 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0002395 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0005280 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0012032 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0000648 ORPHA:254343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0001260 ORPHA:254343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0001347 ORPHA:254343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0002313 ORPHA:254343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0003487 ORPHA:254343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0000182 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0000639 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0001270 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0001336 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0002073 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0002359 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0006895 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0007240 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0200049 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0000712 ORPHA:254343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0001265 ORPHA:254343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000028 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000047 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000175 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000233 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000248 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000252 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000286 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000316 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000337 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000343 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000369 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000405 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000407 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000446 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000463 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000470 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000486 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000520 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000545 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000639 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000664 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000668 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000750 ORPHA:254346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000752 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000821 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0000826 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001250 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001252 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001263 ORPHA:254346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001363 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001397 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001511 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001513 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001629 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001631 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001653 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001659 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001852 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001863 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0001869 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0002079 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0002119 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0002230 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0002650 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0002804 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0002808 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0003077 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0004209 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0004279 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0006101 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0006191 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0006817 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0008572 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0011675 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254346 19p13.12 microdeletion syndrome HP:0100716 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0001638 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0001663 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0001714 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0001962 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0002321 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0002875 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0003199 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0003458 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0003484 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0003547 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0003722 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0004756 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0005144 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0009023 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0009027 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0010872 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0011675 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0011712 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0012251 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0012270 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0031319 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0040014 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0000819 ORPHA:263297 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0000821 ORPHA:263297 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0040081 ORPHA:263297 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0004322 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0006712 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000286 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0008905 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0010485 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0012368 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0030084 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0100581 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000750 ORPHA:319182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000219 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000311 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000316 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000324 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000343 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000431 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000527 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000574 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000708 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000718 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000733 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000736 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000739 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000744 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000752 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000824 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0001182 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0001252 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0002015 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0002194 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0002750 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0004540 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0005616 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0008897 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0009811 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0011968 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0012745 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000218 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000252 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000268 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000348 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000369 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000465 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000506 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000508 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000664 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000767 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0000960 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0001155 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0001249 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0001250 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0001273 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0001508 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0001511 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0002020 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0002230 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0002361 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0003196 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319182 Wiedemann-Steiner syndrome HP:0004209 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0000969 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0001482 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0001744 ORPHA:33577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0001824 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0001945 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0002017 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0002027 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0002240 ORPHA:33577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0002829 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0002960 ORPHA:33577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0003326 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0008065 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0010783 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0012490 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33577 Nodular non-suppurative panniculitis HP:0100533 ORPHA:33577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0025289 ORPHA:50918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0000155 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0000988 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0000989 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0000992 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0001596 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0001824 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0001882 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0002039 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0002633 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0002716 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0002733 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0010783 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0011134 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0012378 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0025143 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0025300 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0025435 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0030166 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0100540 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0200029 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0200036 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0000464 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0001287 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0001744 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0001873 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0001875 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0001903 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0002829 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0002910 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0003326 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0003493 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0003565 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0006530 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0008066 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0011024 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0011227 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0011801 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0012733 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0025475 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0100827 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0200034 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0200035 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0200041 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0001251 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0002202 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0002240 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0008940 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0012819 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:50918 Kikuchi-Fujimoto disease HP:0200039 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0000023 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0000098 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0000160 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0000218 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0000316 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0000348 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0000369 ORPHA:217385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0000445 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0000470 ORPHA:217385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0000494 ORPHA:217385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0001252 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0001263 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0001374 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0002007 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0002079 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0002119 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0003196 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0004209 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217385 17p13.3 microduplication syndrome HP:0008736 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0003477 ORPHA:497764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0008959 ORPHA:497764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0009053 ORPHA:497764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0000571 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0000768 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0001260 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0001265 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0001284 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0001761 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002066 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002070 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002317 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002396 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002936 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0003387 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0003693 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0007141 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0009027 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0012531 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002073 ORPHA:497764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0006855 ORPHA:497764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:497764 Spinocerebellar ataxia type 43 HP:0000726 ORPHA:497764 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0000969 ORPHA:449285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0010783 ORPHA:449285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0011355 ORPHA:449285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0012531 ORPHA:449285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0031364 ORPHA:449285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0000707 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0001297 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0001649 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0001873 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0001892 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0001928 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0002013 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0002170 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0002637 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0003201 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0003470 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0003713 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0007024 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0009088 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0011900 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0000225 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0000421 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0001658 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0001919 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0002014 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0002068 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0002203 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0002615 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0002878 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0002902 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0005521 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0030149 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0040075 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449285 Snakebite envenomation HP:0100665 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001250 ORPHA:529665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0002353 ORPHA:529665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000316 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000341 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000455 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000463 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000545 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000639 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000657 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000750 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000938 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000939 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001256 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001257 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001260 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001272 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001290 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001310 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001321 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001337 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001347 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0002066 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0002069 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0002355 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0003698 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0011220 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0012758 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000505 ORPHA:529665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000648 ORPHA:529665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0002133 ORPHA:529665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0003155 ORPHA:529665 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000750 ORPHA:391372 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002474 ORPHA:391372 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0009088 ORPHA:391372 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0011220 ORPHA:391372 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000119 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000194 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000303 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000316 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000403 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000455 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000478 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000486 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000494 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000508 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000539 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000708 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000729 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000736 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000739 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000954 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001257 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001270 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001371 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001508 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001627 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002019 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002236 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002342 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002714 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002788 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0003196 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0005272 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0007301 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0008762 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0010864 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0011823 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0011968 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0012471 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0410263 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000077 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000256 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000278 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000581 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000598 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000639 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000819 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000821 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001212 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001250 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001252 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001256 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001581 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002092 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002353 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0007018 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0008589 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0012393 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0025502 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0030084 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0040303 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0001945 ORPHA:449280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0002721 ORPHA:449280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0032169 ORPHA:449280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0032255 ORPHA:449280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0001482 ORPHA:449280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0002090 ORPHA:449280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0010766 ORPHA:449280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0032162 ORPHA:449280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0032262 ORPHA:449280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0000246 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0000819 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0001701 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0001977 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0002102 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0002105 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0002206 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0002754 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0002878 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0003095 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0005059 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0005265 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0002795 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0011450 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0011919 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0012210 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0012387 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0012735 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0020101 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0031994 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0032159 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0032176 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0100584 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0100806 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449280 Scedosporiosis HP:0410263 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0001284 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0003474 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0003484 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0007340 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0011964 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0012735 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0030179 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0030200 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0000079 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0001337 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002483 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002540 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002936 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0003236 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0003698 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0007289 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0010546 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0030007 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0031910 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002015 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002094 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002878 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0004887 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0010827 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0011014 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0011470 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0011951 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0410262 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0000717 ORPHA:217377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0000750 ORPHA:217377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0000826 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001249 ORPHA:217377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001250 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001513 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001609 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001611 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001761 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001763 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001770 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0012557 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001878 ORPHA:33574 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0002503 ORPHA:33574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0003198 ORPHA:33574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0003355 ORPHA:33574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0009830 ORPHA:33574 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0000709 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0000952 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001249 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001251 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001260 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001263 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001347 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001433 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001923 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0010522 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0000317 ORPHA:324588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002310 ORPHA:324588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001260 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001332 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001336 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002072 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002322 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002355 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002509 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0008936 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001347 ORPHA:324588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001635 ORPHA:324588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001644 ORPHA:324588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002194 ORPHA:324588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001249 ORPHA:324588 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0000762 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001256 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0003387 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0007078 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0007141 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0007210 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0008625 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001260 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001263 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001344 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001531 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001761 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0002066 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0002522 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0003134 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0003409 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0003438 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0006938 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0008944 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0008954 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0008959 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0008962 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0009027 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0009031 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0009053 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0009129 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0002093 ORPHA:90103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0012046 ORPHA:90103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0012531 ORPHA:90103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0040078 ORPHA:90103 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0000286 ORPHA:324581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0000316 ORPHA:324581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0000341 ORPHA:324581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0001265 ORPHA:324581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0001290 ORPHA:324581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0001072 ORPHA:324581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0001270 ORPHA:324581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0001612 ORPHA:324581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0000160 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0000268 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0000431 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0001254 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0002058 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0002380 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0002795 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0003687 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0011220 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0031139 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324581 Benign Samaritan congenital myopathy HP:0031237 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:25968 Benign occipital epilepsy HP:0002384 ORPHA:25968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:25968 Benign occipital epilepsy HP:0012011 ORPHA:25968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:25968 Benign occipital epilepsy HP:0002013 ORPHA:25968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25968 Benign occipital epilepsy HP:0002315 ORPHA:25968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25968 Benign occipital epilepsy HP:0002367 ORPHA:25968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:25968 Benign occipital epilepsy HP:0025518 ORPHA:25968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0000605 ORPHA:251282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001276 ORPHA:251282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001347 ORPHA:251282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002061 ORPHA:251282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0000514 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001258 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002015 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002064 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002070 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002354 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002355 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002464 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002497 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0003487 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0006961 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0008969 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0000492 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0000508 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001332 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001337 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001761 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002166 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0010831 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001250 ORPHA:251282 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002921 ORPHA:251282 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0003700 ORPHA:251282 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0000750 ORPHA:208444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0001249 ORPHA:208444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0001263 ORPHA:208444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0001256 ORPHA:208444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0001285 ORPHA:208444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0001250 ORPHA:208444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0001269 ORPHA:208444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0002353 ORPHA:208444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0004302 ORPHA:208444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0006801 ORPHA:208444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208444 Bilateral frontal polymicrogyria HP:0002200 ORPHA:208444 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000750 ORPHA:208441 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0002194 ORPHA:208441 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0002539 ORPHA:208441 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0010862 ORPHA:208441 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000708 ORPHA:208441 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001249 ORPHA:208441 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001250 ORPHA:208441 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001263 ORPHA:208441 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0002069 ORPHA:208441 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000174 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000252 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000256 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000365 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000486 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000505 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000718 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000951 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001252 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001257 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001345 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001999 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0002367 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0002384 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0007024 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0008765 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0011297 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0031258 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0031589 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0100852 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0000825 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001319 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001998 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0030796 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0031084 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0040299 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0000713 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0000842 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0000980 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001069 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001520 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001649 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001962 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001985 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0002173 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0002329 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0003162 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0004904 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0012051 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0012759 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001254 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001279 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001325 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001518 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0002591 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0007185 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0009800 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0011968 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0012734 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0002240 ORPHA:324575 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002240 ORPHA:264580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002910 ORPHA:264580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0012379 ORPHA:264580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0030272 ORPHA:264580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001395 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001510 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001943 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001946 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002155 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003124 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003162 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0410175 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000147 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000823 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000858 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000876 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001249 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001263 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001396 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001397 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001508 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002194 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002360 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002719 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002913 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003202 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003236 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003323 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003326 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003394 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003546 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0004322 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0012378 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0030232 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0100607 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000750 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000939 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001252 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001394 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001638 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001744 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001903 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001947 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002013 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002014 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002018 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002040 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003128 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0004324 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0006580 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0012028 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0001263 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0001285 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0001344 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0002020 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0002540 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0009062 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0010864 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0000252 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0001250 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0001272 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0001357 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0002059 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0002093 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0002169 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0002353 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0002650 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0008872 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0012448 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0032794 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0033725 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0000347 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0000369 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0000518 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0000648 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0001308 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0001347 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0001639 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0001776 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0003236 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0011097 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0100704 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0000488 ORPHA:544469 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544469 PRUNE1-related neurological syndrome HP:0002313 ORPHA:544469 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0000822 ORPHA:251274 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0040084 ORPHA:251274 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0002900 ORPHA:251274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0008221 ORPHA:251274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0011740 ORPHA:251274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0000360 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0000421 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0001324 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0001657 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0001712 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0001959 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0002018 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0002150 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0002170 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0002315 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0200114 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251274 Familial hyperaldosteronism type III HP:0011739 ORPHA:251274 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002194 ORPHA:208447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0012736 ORPHA:208447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0031936 ORPHA:208447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0000708 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0000733 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0001257 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002197 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002300 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002510 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0008936 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0010864 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0011968 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0100022 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0100704 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0000252 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0000729 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0001256 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0001332 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0001510 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002020 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002069 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002079 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002123 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002133 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002187 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002342 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002360 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0004322 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0005216 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0006956 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0007166 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0007204 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0007359 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0007824 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0010553 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0010818 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0010819 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0010821 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0011147 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0011153 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0011344 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0012469 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0012704 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0025097 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0025100 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0025517 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0040288 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0100660 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0100716 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0200136 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208447 Bilateral generalized polymicrogyria HP:0002376 ORPHA:208447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0000389 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0001047 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0002090 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0002099 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0002205 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0003212 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0004429 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0004429 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0005401 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0005403 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0005406 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0010976 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0011108 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0012203 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0200042 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0200043 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0002860 ORPHA:217390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0006763 ORPHA:217390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0030417 ORPHA:217390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0006350 ORPHA:49042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0006486 ORPHA:49042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0000683 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0000694 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0001382 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0006282 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0006286 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0006479 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0010299 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0011084 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0025124 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0000978 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0001592 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0006094 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0006335 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0006336 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0010485 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0045086 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0000365 ORPHA:49042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0000592 ORPHA:49042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49042 Dentinogenesis imperfecta HP:0003010 ORPHA:49042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012531 ORPHA:49041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000083 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000126 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000822 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0001824 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0001897 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002027 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002039 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003138 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003259 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003419 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003565 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0005310 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0011227 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012378 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012583 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0025379 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0030157 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0031191 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000074 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000872 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0001370 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0001919 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0001945 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002017 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002019 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002725 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002923 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003262 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003453 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003765 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0010741 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012578 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000034 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000100 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000790 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000802 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002639 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0008682 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012871 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012877 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0100518 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0100817 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000028 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000047 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000048 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000154 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000233 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000252 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000276 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000278 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000348 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000365 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000430 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000482 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000518 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000750 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000958 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0000963 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0008070 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0001057 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0001249 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0001374 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0001508 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0001510 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0001511 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0001629 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0001770 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0001863 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0002164 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0002205 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0002213 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0002558 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0030680 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0004209 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0004326 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0005338 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0006101 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0006315 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0006610 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0008070 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0010761 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0011968 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217346 19q13.11 microdeletion syndrome HP:0200102 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0000851 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0001263 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0001363 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0001513 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0001640 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0002583 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0003073 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001251 ORPHA:88644 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001272 ORPHA:88644 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001288 ORPHA:88644 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002493 ORPHA:88644 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000736 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001257 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001270 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001315 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001347 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002061 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002380 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0003202 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0003487 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0007340 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000020 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000486 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000508 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000570 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000597 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001249 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001260 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001310 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001319 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001558 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001761 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002312 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002500 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002650 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002808 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0003445 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0007267 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0007772 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0011448 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0025402 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0031960 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001271 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002086 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002495 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0003390 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0007178 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0007366 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000164 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000218 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000252 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000272 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000286 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000322 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000347 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000356 ORPHA:217340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000463 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000574 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000664 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000717 ORPHA:217340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000722 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000729 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0000823 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0001249 ORPHA:217340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0001252 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0001263 ORPHA:217340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0001508 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0001770 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0001852 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0002230 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0003196 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0004209 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217340 17q21.31 microduplication syndrome HP:0007018 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0011001 ORPHA:166119 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0011849 ORPHA:166119 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0040068 ORPHA:166119 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0004289 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0009106 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0011314 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0040163 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0100774 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0100925 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0000620 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0001376 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0001387 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0001474 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0002653 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0002823 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0002829 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0004240 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0012758 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0030838 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0030840 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0030955 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0031051 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0032148 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0100569 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0000077 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0000175 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0000818 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0001159 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0001627 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0002960 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0007417 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0010562 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166119 Isolated osteopoikilosis HP:0100324 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0008064 ORPHA:75325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0008209 ORPHA:75325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0010741 ORPHA:75325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0011001 ORPHA:75325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0008209 ORPHA:75325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0000962 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0000982 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0001036 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0002664 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0008404 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0011367 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0040189 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0001903 ORPHA:166113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0008066 ORPHA:166113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0012034 ORPHA:166113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0100816 ORPHA:166113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0000956 ORPHA:166113 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0000969 ORPHA:166113 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0000989 ORPHA:166113 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166113 Bazex syndrome HP:0030078 ORPHA:166113 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0000028 ORPHA:531151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0000126 ORPHA:531151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0001627 ORPHA:531151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0002355 ORPHA:531151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0002579 ORPHA:531151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0000508 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0000637 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0000750 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0001385 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0001883 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0002650 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0002714 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0003186 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0003422 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0007370 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0008897 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0012811 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0030809 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0000729 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0001250 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0001363 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0002282 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0003396 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:531151 9q21.13 microdeletion syndrome HP:0010442 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001627 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001629 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001635 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001643 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001659 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001712 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0002094 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0002875 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0031664 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0031668 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0032092 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001279 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001640 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001642 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001647 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001653 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001671 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001680 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001681 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0001962 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0004757 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0004970 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0006689 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0006695 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0012764 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0030950 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0030973 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3092 Fixed subaortic stenosis HP:0100749 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0001650 ORPHA:3093 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0002875 ORPHA:3093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0030148 ORPHA:3093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0001712 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0004380 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0005135 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0005176 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0010883 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0025075 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0001681 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0001706 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0005162 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0012664 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0030850 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0100584 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0001645 ORPHA:3093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3093 Congenital aortic valve stenosis HP:0012727 ORPHA:3093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0008058 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0008936 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0011471 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0012448 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0012736 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0030211 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0002169 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0003487 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0006579 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0010536 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0030921 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0030927 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0011903 ORPHA:423479 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0002187 ORPHA:423479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000268 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000316 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000369 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000407 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000430 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000490 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000543 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000556 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000577 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000873 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0001116 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0001285 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0001511 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0001525 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0002069 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0002079 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0002509 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0004322 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0004639 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0006801 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0007965 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0000713 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0000729 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0000817 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001249 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001250 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001288 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002353 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002360 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002371 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002376 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002793 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0004302 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0004305 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0011968 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0012171 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0100022 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0000723 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0000735 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001252 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001257 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001332 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001773 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002066 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002186 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002300 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002540 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002876 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002882 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0003808 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0005484 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002505 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0011344 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0012719 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0032588 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0045084 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0100703 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0200055 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0000748 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001256 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001319 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001337 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0001510 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002123 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002194 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002650 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0002808 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0007281 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0007328 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0012469 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0025269 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0025387 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0030215 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3095 Atypical Rett syndrome HP:0007824 ORPHA:3095 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000027 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000135 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000670 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000682 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000789 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0001249 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0001252 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0001263 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002463 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0008734 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0008736 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0010807 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000028 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000046 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000110 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000286 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000316 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000389 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000486 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000545 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000581 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000582 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000679 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000684 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000717 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000771 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0001250 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0001763 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002019 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002099 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002205 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002650 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002673 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002827 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002974 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0003042 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0004209 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0005692 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0005930 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0007018 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0200021 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000175 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000248 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000303 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000445 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000457 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000470 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000737 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0000744 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0001337 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0001360 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0001762 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002020 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002079 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002139 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0002204 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0030680 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0004322 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0004936 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0005280 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0005978 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0008678 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0100025 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96264 49,XXXXY syndrome HP:0100962 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000023 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000027 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000028 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000046 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000098 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000110 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000135 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000175 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000248 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000286 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000303 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000316 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000324 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000389 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000457 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000470 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000486 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000581 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000582 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000670 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000679 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000682 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000684 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000717 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000737 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000739 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000750 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000771 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0000789 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0001250 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0001252 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0001256 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0001263 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0001337 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0001513 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0001762 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0001763 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0002019 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0002020 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0002099 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0002204 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0002205 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0002463 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0030680 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0002650 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0002673 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0002827 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0002974 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0003042 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0004209 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0004936 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0005692 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0005930 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0005978 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0006919 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0007018 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0008734 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0008736 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0010807 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0012433 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0100753 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96263 48,XXXY syndrome HP:0200021 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0000062 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0000142 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0000148 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0000776 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0006703 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0011027 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0000028 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0002101 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0004383 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0008736 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0030010 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0100632 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0000085 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0001629 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0001631 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0001636 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0001643 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0001650 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0001669 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0001680 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0001696 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0001710 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0001743 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0004736 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3097 Meacham syndrome HP:0010772 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000157 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000175 ORPHA:3098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000218 ORPHA:3098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000252 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000260 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000347 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000470 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001061 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001156 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001177 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001199 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001376 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001642 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0002808 ORPHA:3098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0002815 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0002827 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0003063 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0003312 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0004322 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0005280 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0005930 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0008905 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0009811 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0009882 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0011362 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0100543 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001252 ORPHA:88639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001270 ORPHA:88639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001332 ORPHA:88639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002013 ORPHA:88639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002344 ORPHA:88639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0000286 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0000486 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0000639 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001250 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001347 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001508 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001942 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002078 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002119 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002151 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002360 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002521 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0003287 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0003468 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0007370 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0011334 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0011968 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0012469 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0000028 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0000737 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001298 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002093 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002352 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0012697 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001636 ORPHA:88639 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002599 ORPHA:88639 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000159 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000212 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000218 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000280 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000343 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000494 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000974 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0001007 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0001382 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0001582 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0001763 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0002209 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0002650 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0011232 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0012724 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0040079 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000766 ORPHA:217335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000978 ORPHA:217335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0001537 ORPHA:217335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0001620 ORPHA:217335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0100543 ORPHA:217335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000028 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0000815 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0001156 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0004942 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0002659 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0008209 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217335 RIN2 syndrome HP:0011003 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome HP:0000668 ORPHA:88637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome HP:0000815 ORPHA:88637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome HP:0001251 ORPHA:88637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome HP:0003429 ORPHA:88637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000750 ORPHA:411493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001347 ORPHA:411493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0002194 ORPHA:411493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0010862 ORPHA:411493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000430 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000431 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000520 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000527 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000637 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001249 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001250 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001257 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001263 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001276 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001290 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001510 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0002421 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0002538 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0002553 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0007141 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000737 ORPHA:411493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0002363 ORPHA:411493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0009879 ORPHA:411493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0025405 ORPHA:411493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000486 ORPHA:411493 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000505 ORPHA:411493 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000648 ORPHA:411493 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates HP:0003198 ORPHA:88635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates HP:0003236 ORPHA:88635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0000100 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0000246 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0000421 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0000708 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0000980 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0001288 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0001369 ORPHA:3099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0001482 ORPHA:3099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0001633 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0001646 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0001654 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0001701 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0001945 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002017 ORPHA:3099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002019 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002027 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002039 ORPHA:3099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002072 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002076 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002093 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002103 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002167 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002380 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0002829 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0010318 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0010522 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0010526 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0010783 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0011675 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0012378 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0012733 ORPHA:3099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0012819 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0100248 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0100584 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0100749 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3099 Rheumatic fever HP:0100776 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0000365 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0000366 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0000426 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0000430 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0000431 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0000478 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0000504 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0000506 ORPHA:897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0000534 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0000664 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0001103 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0001341 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0002019 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0002027 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0002211 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0002216 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0002226 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0002227 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0002242 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0002251 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0005214 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0005599 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:897 Waardenburg-Shah syndrome HP:0007703 ORPHA:897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0000252 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0000271 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0000365 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0000446 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0000494 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0000506 ORPHA:896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0000574 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0000581 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0001063 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0001167 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0001249 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0001258 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0001387 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0001631 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0002779 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0002817 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0005048 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0010554 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0010804 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0011364 ORPHA:896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0100490 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:896 Waardenburg syndrome type 3 HP:0100750 ORPHA:896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0002333 ORPHA:168782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0002376 ORPHA:168782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0010864 ORPHA:168782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0001250 ORPHA:168782 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0000729 ORPHA:168782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0001268 ORPHA:168782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0007064 ORPHA:168782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0100851 ORPHA:168782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0000020 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0000733 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0000735 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0000739 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0001344 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0002607 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0007086 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168782 Childhood disintegrative disorder HP:0000726 ORPHA:168782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000238 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000541 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000556 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000587 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000648 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001249 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001252 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001263 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001265 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001284 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001302 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001321 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001324 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001328 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001339 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001460 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0002119 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0002126 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0002269 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0002334 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0002536 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0003202 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0003560 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0007227 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0007731 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0007973 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0010508 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0012400 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0040081 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0045040 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000028 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000256 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000501 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000528 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000568 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001274 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001305 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001331 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0007957 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0008736 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000175 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000176 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000193 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000252 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000358 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000369 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000411 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000482 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000518 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0000612 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:899 Walker-Warburg syndrome HP:0001250 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000023 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000028 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000047 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000179 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000202 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000308 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000316 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000340 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000400 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000414 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000431 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000486 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0000582 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0001176 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0001250 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0001376 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0001597 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0002162 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0002242 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0002650 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0002750 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0004209 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0008559 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0009882 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0010864 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0011304 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0011344 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0100335 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3080 Intellectual disability, Wolff type HP:0100490 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000028 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000174 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000303 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000347 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000405 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000446 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000470 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000582 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000601 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000768 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000772 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0001162 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0001249 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0001595 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0001770 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0001991 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0002007 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0002217 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0002808 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0004209 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0004299 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0004322 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0005930 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0006265 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0006610 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0008736 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0009738 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0009896 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0009906 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0010059 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0010508 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0010978 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0030056 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0100840 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000028 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000147 ORPHA:3085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000280 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000407 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000505 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000518 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000639 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000771 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000815 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000842 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000869 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000956 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000958 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001156 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001249 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001272 ORPHA:3085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001513 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001769 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001831 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0002750 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0002808 ORPHA:3085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0003307 ORPHA:3085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0004322 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0005978 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0007703 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0008734 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0010562 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0003118 ORPHA:96253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0003466 ORPHA:96253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0008291 ORPHA:96253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0012030 ORPHA:96253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000141 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000708 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000712 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000819 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000822 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000939 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000953 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000963 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000978 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001007 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001050 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001058 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001061 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001065 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001324 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001626 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001888 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001956 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001974 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0002721 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0003154 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0004324 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0007126 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0008221 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0010284 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0012743 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0025017 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0025383 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0030200 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0031891 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0040270 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0500011 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000716 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000725 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000869 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000876 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000979 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001297 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001658 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0002086 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0002209 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0002315 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0002354 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0002690 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0002953 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0011370 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0031284 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0031364 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0031589 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0031845 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0200042 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000709 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0000726 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0001123 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0007807 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0010741 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0010885 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0011999 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96253 Cushing disease HP:0025269 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88629 Tritanopia HP:0000479 ORPHA:88629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88629 Tritanopia HP:0000552 ORPHA:88629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88629 Tritanopia HP:0030584 ORPHA:88629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88629 Tritanopia HP:0000613 ORPHA:88629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88629 Tritanopia HP:0007663 ORPHA:88629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88629 Tritanopia HP:0012043 ORPHA:88629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0012532 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0012785 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0030147 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0040132 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002607 ORPHA:88628 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0000518 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001250 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001284 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001251 ORPHA:88628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002166 ORPHA:88628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0010831 ORPHA:88628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0000510 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0000572 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0000580 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0000662 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001249 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001288 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001290 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002066 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0007737 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0040078 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0045010 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002143 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002194 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002403 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002579 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002650 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002754 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002808 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0003394 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0012385 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0000822 ORPHA:231632 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0003351 ORPHA:231632 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0011740 ORPHA:231632 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0002315 ORPHA:231632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0002900 ORPHA:231632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0006735 ORPHA:231632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0100615 ORPHA:231632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0200114 ORPHA:231632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0000360 ORPHA:231632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0000421 ORPHA:231632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0001324 ORPHA:231632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0002018 ORPHA:231632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231632 Ectopic aldosterone-producing tumor HP:0008256 ORPHA:231632 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:88621 Ichthyosis-prematurity syndrome HP:0001622 ORPHA:88621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88621 Ichthyosis-prematurity syndrome HP:0001880 ORPHA:88621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88621 Ichthyosis-prematurity syndrome HP:0002643 ORPHA:88621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88621 Ichthyosis-prematurity syndrome HP:0007549 ORPHA:88621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88621 Ichthyosis-prematurity syndrome HP:0008064 ORPHA:88621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0025197 ORPHA:88630 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0025473 ORPHA:88630 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000191 ORPHA:88630 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001156 ORPHA:88630 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001371 ORPHA:88630 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001596 ORPHA:88630 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0030084 ORPHA:88630 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000286 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000316 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000437 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000612 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000685 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001159 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001655 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0002650 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0004322 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0004467 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0009139 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0010306 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0012385 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0045039 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001653 ORPHA:88630 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001723 ORPHA:88630 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000028 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000158 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000164 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000179 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000189 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000256 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000280 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000286 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000293 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000368 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000470 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000474 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000486 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000563 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000682 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000951 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000956 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0000962 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001231 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001249 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001531 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001561 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001582 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001595 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001598 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001629 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001634 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001639 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001642 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001800 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0001814 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0002020 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0002033 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0002120 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0002224 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0002750 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0004322 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0004690 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0005280 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0005692 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0007440 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0007477 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0008872 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0009465 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0009748 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0012740 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0100679 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3071 Costello syndrome HP:0100729 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0000316 ORPHA:3074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0000337 ORPHA:3074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0000343 ORPHA:3074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0000445 ORPHA:3074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0000463 ORPHA:3074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0001249 ORPHA:3074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0002007 ORPHA:3074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0004209 ORPHA:3074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0010669 ORPHA:3074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002160 ORPHA:88618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002910 ORPHA:88618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0003073 ORPHA:88618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0010901 ORPHA:88618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0010919 ORPHA:88618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000486 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000565 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000708 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000736 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001263 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001321 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001392 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001508 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001510 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001789 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001928 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001976 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001999 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002079 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002376 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002421 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0003236 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0003429 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0003560 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0008151 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0008169 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0008947 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0011900 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0011996 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0012110 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0008151 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0012448 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0030890 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000164 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000252 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001324 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001402 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001638 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001763 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002119 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002878 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0003235 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0007141 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0010719 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0012704 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001259 ORPHA:88619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002922 ORPHA:88619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0006846 ORPHA:88619 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001249 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001250 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001257 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001260 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001276 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001288 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001945 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002013 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002063 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002171 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002181 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002363 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002376 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002510 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002793 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0003324 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0010663 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0011887 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0012747 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0025404 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88619 Familial acute necrotizing encephalopathy HP:0031982 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0000158 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0000239 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0000271 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0000280 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0000821 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0000853 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0000952 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0001249 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0001252 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0001263 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0001537 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0001615 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0002019 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0002045 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0002360 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0002445 ORPHA:226292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0003270 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0004322 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0008188 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:226292 Permanent congenital hypothyroidism HP:0011968 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000194 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000268 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000289 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000322 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000338 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000341 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000347 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000411 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000446 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000455 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000752 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000960 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001263 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001290 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001319 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001618 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0002015 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0002553 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0002705 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0010804 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0011081 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0011968 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0012471 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0030197 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0030200 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0040288 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001284 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001308 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0005060 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0005879 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0007002 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0007269 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166108 Intellectual disability, Birk-Barel type HP:0008366 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000272 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001156 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001230 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001249 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001769 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001783 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001831 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0003196 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0005280 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0006009 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0009803 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0010049 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0010055 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0010743 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0012368 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000280 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000303 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000322 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000327 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001511 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0005616 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0008897 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0010579 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000028 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000047 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000219 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000248 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000283 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000316 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000343 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000347 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000358 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000365 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000448 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000505 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000508 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000540 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000565 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000601 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000637 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000682 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000729 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001250 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001319 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001388 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001513 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001763 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0002003 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0002007 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0002516 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0002615 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0002684 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0003165 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0003301 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0005274 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0005819 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0008457 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0009824 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0010665 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0045025 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0003119 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0003401 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0003493 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0004855 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0005293 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0005543 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0025343 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0030350 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0031190 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0031364 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0031365 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0032018 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0040224 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0040248 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0100963 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0410008 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0001876 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0001901 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0001974 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0002140 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0002725 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0002814 ORPHA:542643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0200042 ORPHA:542643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0000953 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0000965 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0001058 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0001075 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0001581 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0001903 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0001977 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0002619 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0002960 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0003029 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0003565 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0005339 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0007572 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0010741 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0012514 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0025016 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0100585 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0100724 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0000819 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0000822 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0001760 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0001976 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0002160 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0012393 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542643 Livedoid vasculopathy HP:0100647 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000162 ORPHA:166100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000175 ORPHA:166100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000272 ORPHA:166100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000343 ORPHA:166100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000347 ORPHA:166100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000407 ORPHA:166100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000767 ORPHA:166100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000768 ORPHA:166100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0002758 ORPHA:166100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0002829 ORPHA:166100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0005916 ORPHA:166100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0100777 ORPHA:166100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0000053 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0000718 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0000737 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0000752 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001250 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002360 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0006801 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001337 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001635 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002039 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002061 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002342 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002395 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0004322 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0006919 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0007302 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0010864 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0011188 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001297 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001300 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001513 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002136 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002322 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002362 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002751 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0025403 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0100852 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000252 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000648 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001250 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001276 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0008850 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0012715 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000618 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001257 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001518 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0002198 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0002788 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0005486 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0005949 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0010864 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0012444 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0040288 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000076 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000239 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000347 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000377 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000400 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001199 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001305 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001321 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001336 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001374 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001629 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001838 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001848 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0003196 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0005781 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0006829 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0006956 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0008110 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000126 ORPHA:3079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000218 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000252 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000303 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000316 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000340 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000400 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000431 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000494 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000581 ORPHA:3079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000613 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000689 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000768 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0001231 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0001249 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0001537 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0001671 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0002064 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0002167 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0002213 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0002644 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0002683 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0004209 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0004322 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0004349 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0004422 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0006482 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0008407 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0008425 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0010807 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0002355 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0002913 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0003236 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0003326 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0003546 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0003551 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0012086 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0001324 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0002527 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0002814 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0002910 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0003394 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0012378 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0001763 ORPHA:98895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0003202 ORPHA:98895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98895 Becker muscular dystrophy HP:0030051 ORPHA:98895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0000750 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0001263 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0001270 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0001328 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0001371 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0001638 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0002093 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0002515 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0002650 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0003202 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0003236 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0003323 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0003701 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0008981 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98896 Duchenne muscular dystrophy HP:0100543 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0000590 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0030319 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0007838 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0000597 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0000301 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0008376 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0200136 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0009063 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0008944 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0007149 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0002747 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0000408 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0009073 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0001824 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0002058 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0002705 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0000183 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0002091 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0002100 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0430015 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0001604 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0008756 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0009027 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0002355 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0001284 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:3000005 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0030192 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0008963 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0008959 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0009053 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0002505 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0010550 ORPHA:98897 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0008997 ORPHA:98897 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:3000010 ORPHA:98897 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0031162 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98897 Oculopharyngodistal myopathy HP:0000218 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000252 ORPHA:391307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0001263 ORPHA:391307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0001999 ORPHA:391307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0010864 ORPHA:391307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000708 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000718 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000733 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000750 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002360 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002650 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002751 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0004322 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000164 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000233 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000340 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000400 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000448 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000486 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000490 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000664 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000737 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000752 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0001888 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002079 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002342 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002486 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002500 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0004691 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0008209 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:871 Familial progressive cardiac conduction defect HP:0001279 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:871 Familial progressive cardiac conduction defect HP:0001635 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:871 Familial progressive cardiac conduction defect HP:0002027 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:871 Familial progressive cardiac conduction defect HP:0002094 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:871 Familial progressive cardiac conduction defect HP:0002321 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:871 Familial progressive cardiac conduction defect HP:0011675 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:871 Familial progressive cardiac conduction defect HP:0011710 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:871 Familial progressive cardiac conduction defect HP:0012722 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000144 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000158 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000160 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000164 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000179 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000189 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000194 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000235 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000248 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000286 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000405 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000457 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000470 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000474 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000486 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000518 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000545 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000582 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000691 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0000821 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0008070 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0001156 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0001249 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0001252 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0001288 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0001388 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0001513 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0001537 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0001852 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0002023 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0002251 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0002376 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0030680 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0002714 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0003196 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0004209 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0005280 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0005978 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0006733 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0007328 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0007495 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0007598 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0008678 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0010808 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0010978 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0012368 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0100763 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:870 Down syndrome HP:0100830 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0030499 ORPHA:75376 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0030500 ORPHA:75376 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0000572 ORPHA:75376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0007754 ORPHA:75376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0007937 ORPHA:75376 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0007703 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0011509 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0012508 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0030629 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0030631 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0030632 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0000613 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0007401 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0007793 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0007950 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0011506 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0012231 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0025574 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0030528 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75376 Familial drusen HP:0031526 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0000126 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0001376 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0001482 ORPHA:873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0002024 ORPHA:873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0002027 ORPHA:873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0002239 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0002797 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0002829 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0003011 ORPHA:873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0003326 ORPHA:873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0004298 ORPHA:873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0005214 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0007703 ORPHA:873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0008069 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0010614 ORPHA:873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0010935 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0100245 ORPHA:873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0100749 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0100806 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:873 Desmoid tumor HP:0200008 ORPHA:873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0000505 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0000545 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0000565 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0000580 ORPHA:75373 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0000639 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0001135 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0007401 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75374 Bradyopsia HP:0000505 ORPHA:75374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75374 Bradyopsia HP:0000613 ORPHA:75374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002751 ORPHA:3063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000175 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000179 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000275 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000276 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000324 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000939 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001166 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001519 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001611 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002317 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002808 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0003199 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0008947 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0010511 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0011308 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000028 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000029 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000047 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000160 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000218 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000316 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000319 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000369 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000414 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000426 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000463 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000465 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000582 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000664 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000678 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000750 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001256 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001336 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001344 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001999 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002123 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002353 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002540 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002757 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0003698 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0004305 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0007509 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0007687 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0010722 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0011153 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0045075 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000086 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000232 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000248 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000303 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000322 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000378 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000385 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000391 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000520 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000767 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000768 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001355 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002181 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002187 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0004322 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0006610 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0010789 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0011003 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3063 X-linked intellectual disability, Snyder type HP:0012385 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000252 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000278 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000325 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000426 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0001270 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0001999 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0002172 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0008947 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0011094 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0011343 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000218 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000341 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000411 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000490 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0001166 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0002761 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0002996 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0005469 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0005922 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0006927 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0010501 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0010669 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0010850 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000039 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000175 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000180 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000191 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000243 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000252 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000308 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000340 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000368 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000414 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000465 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000470 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000480 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000506 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000582 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001162 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001249 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001252 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001263 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001305 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001338 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001629 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001643 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001830 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001999 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0002079 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0002198 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0002419 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0007082 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0007165 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0008689 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0008753 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0010051 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0010055 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0010066 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0010297 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0010535 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0011069 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0011471 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0011802 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0012447 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:434179 Orofaciodigital syndrome type 14 HP:0100954 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:868 Triose phosphate-isomerase deficiency HP:0000762 ORPHA:868 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:868 Triose phosphate-isomerase deficiency HP:0001252 ORPHA:868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:868 Triose phosphate-isomerase deficiency HP:0001639 ORPHA:868 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:868 Triose phosphate-isomerase deficiency HP:0003202 ORPHA:868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:868 Triose phosphate-isomerase deficiency HP:0006597 ORPHA:868 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:868 Triose phosphate-isomerase deficiency HP:0007009 ORPHA:868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:868 Triose phosphate-isomerase deficiency HP:0010978 ORPHA:868 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:867 Familial multiple trichoepithelioma HP:0001482 ORPHA:867 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:867 Familial multiple trichoepithelioma HP:0002671 ORPHA:867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:867 Familial multiple trichoepithelioma HP:0100585 ORPHA:867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:867 Familial multiple trichoepithelioma HP:0200034 ORPHA:867 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000044 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000174 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000252 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000316 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000324 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000377 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000411 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000426 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000494 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000508 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000545 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000597 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000768 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000772 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0001376 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0001519 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0002231 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0030680 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0002575 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0002750 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0003202 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0003272 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0003307 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0004209 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0004303 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0004322 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0004493 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0008736 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0010628 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0010864 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0000846 ORPHA:869 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0001250 ORPHA:869 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0002571 ORPHA:869 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0007440 ORPHA:869 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0000505 ORPHA:869 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0000982 ORPHA:869 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0004322 ORPHA:869 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0000252 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0000407 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0000612 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0000648 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0000830 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0001251 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0001252 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0001347 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0001430 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0001761 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0002093 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0002376 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0007002 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0007556 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:869 Triple A syndrome HP:0010486 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000282 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000969 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0001265 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0001324 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0002018 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0003212 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0003457 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0030953 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0100539 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000211 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000360 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000496 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000509 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000602 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000708 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000737 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000741 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000988 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0001254 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0001262 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0001269 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0001289 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0001626 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0002015 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0002321 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0002354 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0002921 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0004372 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0005986 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0200026 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000553 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000573 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000587 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0000651 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0001287 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0001298 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0002301 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0002381 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0003487 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0009916 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0010628 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:863 Trichinellosis HP:0025342 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0000961 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001649 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001693 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0011028 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0011563 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0012418 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0030148 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0000975 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001508 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001629 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001631 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001633 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001635 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001640 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001641 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001643 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001667 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0002789 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0006704 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0010772 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0012303 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0025074 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0031348 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0031349 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0032092 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0200128 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001518 ORPHA:860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001680 ORPHA:860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0002240 ORPHA:860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0011611 ORPHA:860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0012304 ORPHA:860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0009800 ORPHA:860 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000028 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000046 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000143 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000154 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000160 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000162 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000164 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000175 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000204 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000218 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000248 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000272 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000278 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000294 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000316 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000327 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000347 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000370 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000384 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000405 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000431 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000453 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000486 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000494 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000505 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000518 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000561 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000568 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000612 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000625 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000643 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000682 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000778 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000834 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0000925 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0001263 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0001508 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0001595 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0001643 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0001999 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0002006 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0002007 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0002084 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0002093 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0030680 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0002575 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0004348 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0005701 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0005990 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0006482 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0008551 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0008736 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0009795 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0009804 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0010807 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0011219 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0011386 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0011800 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0002381 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0002652 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:861 Treacher-Collins syndrome HP:0010669 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000154 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000232 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000233 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000252 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000319 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000325 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000343 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000463 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0008070 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001156 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0005916 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001249 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001263 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001328 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001373 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001596 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002300 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002381 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002381 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002705 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0004279 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0009928 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0010529 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000028 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000035 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000446 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000527 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000581 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000964 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001167 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001250 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001852 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002121 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002133 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002553 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002650 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0003510 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0006610 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0007392 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0007665 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0009836 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0010720 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0011097 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0012745 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0100760 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000494 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002750 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0005616 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0005930 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0030680 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3051 Nicolaides-Baraitser syndrome HP:0100790 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0007642 ORPHA:75382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0007984 ORPHA:75382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0030824 ORPHA:75382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0000539 ORPHA:75382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0000545 ORPHA:75382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0000608 ORPHA:75382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0000486 ORPHA:75382 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0000505 ORPHA:75382 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0000510 ORPHA:75382 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0000639 ORPHA:75382 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0000651 ORPHA:75382 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0001123 ORPHA:75382 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:75382 Oguchi disease HP:0007641 ORPHA:75382 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome HP:0001249 ORPHA:3052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome HP:0001250 ORPHA:3052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome HP:0003765 ORPHA:3052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome HP:0003538 ORPHA:3052 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome HP:0008064 ORPHA:3052 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000026 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000027 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000119 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000243 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000262 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000280 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000316 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000347 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000368 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000394 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000519 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000708 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000744 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000750 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0001263 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000771 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0003241 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0000837 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0002750 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0001176 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0009237 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0001249 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0001252 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0001999 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0002119 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0002500 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0002650 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0002761 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0002788 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0002967 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0002974 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0003782 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0003946 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0004237 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0008193 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0008734 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0011310 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0011343 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0040019 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0040171 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0045058 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0100559 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99330 49,XYYYY syndrome HP:0100710 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0008959 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0009046 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0010628 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0012391 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0003803 ORPHA:178145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0004976 ORPHA:178145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0005001 ORPHA:178145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0001319 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0001762 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0002194 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0003324 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0003327 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0005692 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0008954 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000232 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000272 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000280 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000316 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000463 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000750 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001252 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001263 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002263 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0003196 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0010804 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0010864 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000158 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000248 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000252 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000303 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000337 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000365 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000389 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000391 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000582 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000664 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000708 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000718 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000729 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000742 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001513 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001629 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001647 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001680 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002019 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002360 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002553 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0011675 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000028 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000047 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000054 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000076 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000083 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000107 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000126 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000324 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000684 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0000733 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001250 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001274 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001376 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001636 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0001762 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002020 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002021 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002094 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002119 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002120 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002205 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002376 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002558 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002607 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002650 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002714 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0002779 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0004322 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0004415 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0006288 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0008736 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0100716 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261494 Kleefstra syndrome HP:0100790 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000028 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000218 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000268 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000369 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000426 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000465 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000470 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000954 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0001371 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0001591 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002093 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002194 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002650 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002792 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002804 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0003327 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0003789 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0008050 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0030084 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0100297 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002808 ORPHA:178148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0000822 ORPHA:231625 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0100631 ORPHA:231625 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0001324 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0003118 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0002900 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0003351 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0011740 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0200114 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0001962 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0002018 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0003081 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0003394 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0003401 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0005135 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0000360 ORPHA:231625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0000421 ORPHA:231625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0002170 ORPHA:231625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0002315 ORPHA:231625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0000718 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0000729 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0000750 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0000752 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0001252 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0001257 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0002342 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0002360 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0003763 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0000256 ORPHA:356996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0001250 ORPHA:356996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0001256 ORPHA:356996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0001520 ORPHA:356996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000028 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000047 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000048 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000076 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000077 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000083 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000086 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000089 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000130 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000142 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000143 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000154 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000324 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000365 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000384 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000396 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000486 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000504 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000518 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000567 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000568 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000581 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000612 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000772 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000821 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0000823 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001140 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001177 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001199 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001249 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001274 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001482 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001508 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001545 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001631 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001636 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001641 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001643 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001671 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001760 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001763 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001770 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0001863 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0002019 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0002023 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0002308 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0030680 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0002607 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0003468 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0004209 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0004322 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0004792 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0005562 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0006824 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0008551 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0008572 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0008736 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0009465 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0009912 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0009944 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0010059 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0010331 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0010481 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0010760 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0011304 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:857 Townes-Brocks syndrome HP:0100559 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000028 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000368 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000486 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000506 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000708 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0001249 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0001250 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0001263 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0001513 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0001608 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0004322 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0008736 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0010468 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0008064 ORPHA:3055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000639 ORPHA:3055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000964 ORPHA:3055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000992 ORPHA:3055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0004299 ORPHA:3055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000026 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000027 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000098 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000179 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000218 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000286 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000316 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000343 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000470 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000708 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000718 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000744 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0000750 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0001263 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0012210 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0001061 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0001249 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0001256 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0001760 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0001763 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0002099 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0002788 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0002974 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0003083 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0005280 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0006297 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0006316 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0007477 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0008193 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0011968 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99329 48,XYYY syndrome HP:0100710 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0001873 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0001875 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0001876 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0001888 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0001919 ORPHA:859 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0001980 ORPHA:859 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0002720 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0002850 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0003220 ORPHA:859 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0004313 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0004315 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:859 Transcobalamin deficiency HP:0012120 ORPHA:859 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3057 Monoamine oxidase A deficiency HP:0000708 ORPHA:3057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3057 Monoamine oxidase A deficiency HP:0100543 ORPHA:3057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0000238 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0000252 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0000365 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0000505 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0000568 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0000639 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0000952 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0001250 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0001252 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0001263 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0001511 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0001531 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0001541 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0001622 ORPHA:858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0001640 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0001873 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0001903 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0002014 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0002119 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0002240 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0002514 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0002716 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0002910 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0007703 ORPHA:858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0012733 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:858 Congenital toxoplasmosis HP:0100543 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0004809 ORPHA:853 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0000967 ORPHA:853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0000979 ORPHA:853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0001892 ORPHA:853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0007420 ORPHA:853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0012541 ORPHA:853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0000790 ORPHA:853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0002170 ORPHA:853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0002239 ORPHA:853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0002249 ORPHA:853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0031364 ORPHA:853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0000618 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0000707 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0001263 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0002138 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0008619 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0100021 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0030631 ORPHA:75377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0031152 ORPHA:75377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0000505 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0000572 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0007401 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0007663 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0007894 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0007924 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0030615 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0000533 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0007814 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0007980 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0011510 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0030491 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0030629 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0000662 ORPHA:75377 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75377 Central areolar choroidal dystrophy HP:0007641 ORPHA:75377 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75378 Oligocone trichromacy HP:0000512 ORPHA:75378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75378 Oligocone trichromacy HP:0000613 ORPHA:75378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000028 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000062 ORPHA:893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000232 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000252 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000347 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000364 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000501 ORPHA:893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000505 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000508 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000518 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0000639 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0001249 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0001513 ORPHA:893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0002650 ORPHA:893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0004322 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0007299 ORPHA:893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0008053 ORPHA:893 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:893 WAGR syndrome HP:0100627 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0000478 ORPHA:892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0000822 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0005584 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0006748 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0006880 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0009711 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0011976 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0000572 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0000739 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0000975 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0000980 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0001085 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0001095 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0001297 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0001638 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0001737 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0001962 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0002027 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0002315 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0002321 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0003334 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0003418 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0003484 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0005162 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0005562 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0008261 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0009053 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0009715 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0009763 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0011675 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0030393 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0030405 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0040049 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0000541 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0001658 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0001901 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0002516 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0002668 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0002894 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0012819 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:892 Von Hippel-Lindau disease HP:0030424 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0000365 ORPHA:895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0002216 ORPHA:895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0005599 ORPHA:895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0000407 ORPHA:895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0001053 ORPHA:895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0001100 ORPHA:895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0002211 ORPHA:895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0000077 ORPHA:895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0000506 ORPHA:895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0000508 ORPHA:895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0002251 ORPHA:895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:895 Waardenburg syndrome type 2 HP:0004414 ORPHA:895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000175 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000204 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000303 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000365 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000430 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000431 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000478 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000486 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000504 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000506 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000508 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000574 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000632 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000664 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0000912 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0001053 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0001100 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0001595 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0002211 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0002216 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0002226 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0002227 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0002251 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0002414 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0002435 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0030680 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0002650 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0003196 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0005599 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0008527 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0010804 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:894 Waardenburg syndrome type 1 HP:0011364 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0000565 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0000938 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0001250 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0001290 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0001337 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0001397 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0001508 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0002019 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0002020 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0002167 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0002910 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0003256 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0003429 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0003642 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0004322 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0005616 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0007301 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0012758 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0410018 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0000958 ORPHA:300536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0009125 ORPHA:300536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0000832 ORPHA:300536 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:300536 DDOST-CDG HP:0012593 ORPHA:300536 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001761 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001831 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001840 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001956 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002205 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002313 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002378 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002938 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002942 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002944 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0004691 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0004692 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0005469 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0008414 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0009738 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0011220 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0011800 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0011968 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0030044 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000232 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000233 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000348 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000455 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000490 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000582 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001999 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002234 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002292 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0003086 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0010864 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000054 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000135 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000219 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000414 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000635 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001250 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002317 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002751 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0003065 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0003199 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0003241 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0003758 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0008734 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0008947 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0010499 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000218 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000268 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000286 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000322 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000411 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000742 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000957 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001187 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001310 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000135 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000174 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000238 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000400 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000405 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000494 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000518 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000664 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000767 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000771 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000774 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001249 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001250 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001288 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001357 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001371 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001798 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001903 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0002376 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0002650 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0002797 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0002808 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0002868 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0003198 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0003273 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0003301 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0003312 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0004322 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0005103 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0005121 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0008689 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0011800 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0012062 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0007773 ORPHA:891 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0007685 ORPHA:891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0001493 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0007663 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0007917 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0012795 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0030666 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0031526 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0000252 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0000365 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0000518 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0000533 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0000568 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0000618 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0001004 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0001141 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0001256 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0001270 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0004349 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0007902 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0011342 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0012230 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0030496 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0030503 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0040049 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0100014 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:891 Familial exudative vitreoretinopathy HP:0100832 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0000083 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0000952 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0001541 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0002027 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0002240 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0002878 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0002910 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0003573 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0004324 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0001928 ORPHA:890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0003645 ORPHA:890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:890 Hepatic veno-occlusive disease HP:0002480 ORPHA:890 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000028 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000135 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000233 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000414 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000490 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001256 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001263 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001508 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001620 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001773 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0004322 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0008734 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0200055 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000771 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001252 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001511 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001956 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0002231 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0002750 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261483 Xq27.3q28 duplication syndrome HP:0008209 ORPHA:261483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002148 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002150 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0003109 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0004912 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0010639 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0031415 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0031425 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0031428 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0031817 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0000787 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0000924 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0001510 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002653 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002749 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0004349 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0012408 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0000897 ORPHA:157215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002515 ORPHA:157215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002756 ORPHA:157215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002979 ORPHA:157215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0004322 ORPHA:157215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001392 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001409 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002027 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002240 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002904 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0003073 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0006707 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001824 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002034 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002039 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002040 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002910 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0003270 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0005293 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0005978 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0410019 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0000952 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001541 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0000712 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001873 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001894 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001901 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001903 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001943 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001945 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002014 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002094 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002480 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002605 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002653 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002664 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002900 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002902 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0003072 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0001939 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0004396 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0010741 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0011029 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0012050 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0012378 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0025142 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0100762 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0200114 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002615 ORPHA:88673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0002639 ORPHA:88673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:88673 Hepatocellular carcinoma HP:0100523 ORPHA:88673 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0001644 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0001760 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0005115 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0005150 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0011675 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0011702 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0001156 ORPHA:168796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000276 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000303 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000445 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000490 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0001263 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0001999 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0002225 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0002342 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0003191 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0003782 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0008232 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0008734 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0011969 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0012809 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0040171 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0100651 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0002069 ORPHA:3044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0008947 ORPHA:3044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0100783 ORPHA:3044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000327 ORPHA:3044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0002373 ORPHA:3044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0008988 ORPHA:3044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0000163 ORPHA:889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0000965 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0000979 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0000988 ORPHA:889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0001025 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0001482 ORPHA:889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0001581 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0001945 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0002633 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0002829 ORPHA:889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0003326 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0010783 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0100758 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:889 Cutaneous small vessel vasculitis HP:0200034 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0008665 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000212 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000316 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000347 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000356 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000369 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000485 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000695 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000894 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000938 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0001007 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0001156 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0001433 ORPHA:313855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0001591 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0001978 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0004440 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0002814 ORPHA:313855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0002979 ORPHA:313855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0003175 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0004453 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0005474 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0007642 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0010455 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0011223 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0011800 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0030042 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313855 FGFR2-related bent bone dysplasia HP:0030313 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000028 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000269 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000278 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000340 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000347 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000358 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000369 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000414 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000448 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000581 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000821 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001249 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001252 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001263 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001328 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0003189 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0003510 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0012745 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000176 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000193 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000252 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001250 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001508 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001510 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001561 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001629 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001631 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001643 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0002205 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0004209 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0004426 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0005692 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0005990 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0006695 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0007598 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0008188 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0008191 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0009738 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0011968 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0100028 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0100490 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000614 ORPHA:3047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0100648 ORPHA:3047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000144 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000360 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000407 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000483 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000505 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000512 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000518 ORPHA:886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000529 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000545 ORPHA:886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000618 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000639 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000662 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000670 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000682 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000691 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000709 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000716 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000738 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0000739 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0001123 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0001251 ORPHA:886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0001639 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0001751 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0002120 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0003198 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0003457 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0007360 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0007703 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0008499 ORPHA:886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0008568 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0010780 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0011025 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0011073 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:886 Usher syndrome HP:0100543 ORPHA:886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:888 Van der Woude syndrome HP:0000175 ORPHA:888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:888 Van der Woude syndrome HP:0000196 ORPHA:888 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:888 Van der Woude syndrome HP:0000204 ORPHA:888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:888 Van der Woude syndrome HP:0000668 ORPHA:888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:888 Van der Woude syndrome HP:0010286 ORPHA:888 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:888 Van der Woude syndrome HP:0100267 ORPHA:888 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000003 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000008 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000028 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000047 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000048 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000062 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000086 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000104 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000126 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000175 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000239 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000368 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000772 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000776 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0000795 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0001048 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0001177 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0001195 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0001511 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0001539 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0001561 ORPHA:887 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0001601 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0001622 ORPHA:887 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0001671 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0001732 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0002023 ORPHA:887 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0002085 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0002323 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0030680 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0002575 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0002777 ORPHA:887 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0003422 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0005107 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0005108 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0005264 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0006101 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0006501 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0006703 ORPHA:887 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0008736 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0012732 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:887 VACTERL/VATER association HP:0100335 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:882 Tyrosinemia type 1 HP:0001402 ORPHA:882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:882 Tyrosinemia type 1 HP:0001744 ORPHA:882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:882 Tyrosinemia type 1 HP:0002240 ORPHA:882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:882 Tyrosinemia type 1 HP:0002909 ORPHA:882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:882 Tyrosinemia type 1 HP:0006463 ORPHA:882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:882 Tyrosinemia type 1 HP:0006554 ORPHA:882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000137 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000470 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000823 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000837 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000879 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000938 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000939 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001510 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001511 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002750 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002967 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0003492 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0004322 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0006610 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0006709 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0008209 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0008222 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0008897 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0012774 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0040072 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0100625 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0008209 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000218 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000278 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000347 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000365 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000369 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000403 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000465 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000474 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000475 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000708 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000739 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000758 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000786 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000822 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001952 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000869 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000872 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000914 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001328 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001397 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001513 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001531 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001800 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002162 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002705 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002808 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002857 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002910 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0005113 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0005689 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0006438 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0006456 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0007477 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0009759 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0010044 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0010047 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0010510 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000085 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000086 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000164 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000286 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000476 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000486 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000508 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000545 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000716 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000767 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000842 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000987 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000995 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001004 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001045 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001231 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001385 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001395 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001596 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001631 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001647 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001657 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001658 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001680 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001763 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001812 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001831 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002608 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002611 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002650 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002960 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0003067 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0003186 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0003764 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0004349 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0005603 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0005978 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0007018 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0003077 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0008572 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0009118 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0011307 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0012434 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0100646 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000150 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0000471 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0001394 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002037 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002613 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002647 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0002861 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0004383 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0004386 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0005294 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0008678 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:881 Turner syndrome HP:0012758 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000215 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000219 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000232 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000280 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000316 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000343 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000463 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000470 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000486 ORPHA:884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000506 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000508 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0045075 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000582 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000684 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0000966 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0001252 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0001315 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0002007 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0002023 ORPHA:884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0002714 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0002750 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0003196 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0004322 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0004326 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0005692 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0008070 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0010864 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0011220 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:884 Tetrasomy 12p HP:0100736 ORPHA:884 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0000044 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0000232 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0000316 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0000403 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0000486 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0000540 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0000565 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001263 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0000846 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0000939 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001249 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001250 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001257 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001259 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001274 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001319 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001289 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001388 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001510 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0001993 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0002017 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0002155 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0003198 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0003199 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0003236 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0008981 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0003738 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0003750 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0004349 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0005949 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0008207 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261476 Xp21 deletion syndrome HP:0040019 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0000003 ORPHA:3032 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0000110 ORPHA:3032 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0001305 ORPHA:3032 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0001561 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0001562 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0001732 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0002089 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0002566 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0012440 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0030146 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0006286 ORPHA:88661 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0011073 ORPHA:88661 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0005216 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0006285 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0006297 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0011084 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0011085 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0025124 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0009102 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0000679 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0000685 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0000687 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0006283 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0010299 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0011071 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:88661 Amelogenesis imperfecta HP:0030791 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0000112 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0000114 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0000252 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0000316 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0001561 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0001562 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0001622 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0001636 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0002089 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0005562 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0005692 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0007598 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3033 Renal tubular dysgenesis HP:0008660 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0007565 ORPHA:137605 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0000708 ORPHA:137605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0000997 ORPHA:137605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0001328 ORPHA:137605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0030052 ORPHA:137605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0000256 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0000736 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0000752 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0000766 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0001012 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0004322 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0000365 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0000518 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0000750 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0000787 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0001114 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0001250 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0001252 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0001270 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0001332 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0001634 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0001642 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0002650 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0002667 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0004209 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0004845 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0006671 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0007018 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0007099 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0009588 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0010442 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0030358 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0032077 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0100245 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0100543 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0100615 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0410263 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0001067 ORPHA:137605 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0009734 ORPHA:137605 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0009737 ORPHA:137605 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0100006 ORPHA:137605 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:137605 Legius syndrome HP:0100252 ORPHA:137605 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3034 Delayed membranous cranial ossification HP:0000269 ORPHA:3034 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3034 Delayed membranous cranial ossification HP:0000316 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3034 Delayed membranous cranial ossification HP:0000457 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3034 Delayed membranous cranial ossification HP:0000582 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3034 Delayed membranous cranial ossification HP:0002007 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3034 Delayed membranous cranial ossification HP:0004331 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3034 Delayed membranous cranial ossification HP:0011800 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0000347 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0000582 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0000772 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0001511 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0001539 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0001744 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002089 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002410 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002514 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002566 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002814 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002982 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002986 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002991 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0006487 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0009816 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0100569 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000218 ORPHA:3038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000316 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000324 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000343 ORPHA:3038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000369 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000463 ORPHA:3038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000486 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000494 ORPHA:3038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000508 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000577 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000750 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0001249 ORPHA:3038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0007946 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0009908 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0000256 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0001482 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0001635 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0001883 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0002757 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0004349 ORPHA:137608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0004374 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0005293 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0007392 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0010566 ORPHA:137608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100013 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100026 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100031 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100559 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100560 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100615 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100761 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100764 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0200034 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0000147 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0000822 ORPHA:90970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0000855 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0000956 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0000991 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0001394 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0001397 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0001635 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0001638 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0001681 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0001733 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0001744 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0002635 ORPHA:90970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0003077 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0003198 ORPHA:90970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0003326 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0003712 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0005978 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0009125 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0100578 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90970 Primary lipodystrophy HP:0400008 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000028 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000055 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000135 ORPHA:950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000194 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000248 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000286 ORPHA:950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000303 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000316 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000327 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000365 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000431 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000457 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000463 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000684 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000858 ORPHA:950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0000995 ORPHA:950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0001156 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0005916 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0001249 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0001597 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0001831 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0002818 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0002983 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0002984 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0040071 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0003022 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0003196 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0003312 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0003416 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0004322 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0005280 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0005616 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0009830 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0010049 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0010579 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0010655 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0010743 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0010807 ORPHA:950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0010978 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:950 Acrodysostosis HP:0011800 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0100494 ORPHA:98850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0000939 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0000989 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001433 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001824 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001974 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002014 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002024 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002027 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002039 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002615 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002653 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002716 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002829 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0003155 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0012378 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0025142 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0031284 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0031408 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0031901 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0032155 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0100845 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001025 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001409 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001410 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001541 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001873 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001875 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001876 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001903 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001909 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0001971 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002239 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002756 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0002797 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0004377 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0008066 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0011121 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98850 Aggressive systemic mastocytosis HP:0040186 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000164 ORPHA:93160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000268 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000765 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000787 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000843 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000944 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000951 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0001288 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0001373 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0001596 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002007 ORPHA:93160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002148 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002650 ORPHA:93160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002653 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002749 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002757 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002797 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002857 ORPHA:93160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002901 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002970 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0003272 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0003312 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0003330 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0004322 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0006323 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0009124 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0012062 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0100670 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0001290 ORPHA:456328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000028 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000048 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000054 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000807 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000808 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0001561 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0002093 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0003244 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0040314 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000218 ORPHA:456328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000278 ORPHA:456328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000883 ORPHA:456328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0001382 ORPHA:456328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0011968 ORPHA:456328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0000338 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001260 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001276 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001288 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001332 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001392 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001409 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001413 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001744 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001901 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002040 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002063 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002067 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002075 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002172 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002240 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002345 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002355 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002453 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002910 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0009830 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0010927 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0012447 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0012751 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0040135 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0000252 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0000952 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001639 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001928 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002078 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002154 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002313 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002446 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0004337 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0007010 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0008151 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0012343 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0025196 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0025321 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0100513 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000175 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000252 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000262 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000316 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000322 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000340 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000347 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000368 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000377 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000405 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000407 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000426 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000453 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000463 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000494 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000506 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000508 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000520 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000545 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000632 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0000767 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0001182 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0001199 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0001231 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0001363 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0030680 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0002673 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0002857 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0002869 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0003272 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0003298 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0003312 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0004322 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0004452 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0004467 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0006288 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0008388 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0009465 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0009882 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0010034 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0010097 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0011304 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0011453 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:949 Acrocraniofacial dysostosis HP:0011454 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0005561 ORPHA:98848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0011121 ORPHA:98848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0031408 ORPHA:98848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0100494 ORPHA:98848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0100495 ORPHA:98848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0000939 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0000988 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0000989 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0001025 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0011354 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0012393 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0025081 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0031284 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0031901 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0032155 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0040186 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0100845 ORPHA:98848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0001744 ORPHA:98848 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0002240 ORPHA:98848 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0002716 ORPHA:98848 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98848 Indolent systemic mastocytosis HP:0004377 ORPHA:98848 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0004377 ORPHA:98849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0012324 ORPHA:98849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0031901 ORPHA:98849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0100494 ORPHA:98849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0000980 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0000989 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001824 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001873 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001880 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001895 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001897 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001945 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001974 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002315 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0005547 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0012378 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0031020 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0000939 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001025 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001279 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001649 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001744 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002014 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002018 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002027 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002086 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002240 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002615 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002653 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002659 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002665 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002716 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002829 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002863 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0003326 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0004398 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0004808 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0011897 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0012138 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0012325 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0031284 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0031807 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0005550 ORPHA:98849 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0006775 ORPHA:98849 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0011034 ORPHA:98849 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0000175 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0000238 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0000316 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0000929 ORPHA:945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0001162 ORPHA:945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0001360 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0001362 ORPHA:945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0001539 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0001883 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0002101 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0002269 ORPHA:945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0002414 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0030680 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:945 Acalvaria HP:0007360 ORPHA:945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0000135 ORPHA:3143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0000820 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0000829 ORPHA:3143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0000872 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0001053 ORPHA:3143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0001596 ORPHA:3143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0002608 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0003011 ORPHA:3143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0008207 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0100647 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0100651 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000028 ORPHA:3144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000175 ORPHA:3144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000256 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000268 ORPHA:3144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000272 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000470 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000773 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000774 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000882 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000895 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000944 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000946 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0000947 ORPHA:3144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0001004 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0001231 ORPHA:3144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0001561 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0001800 ORPHA:3144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0002983 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0003038 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0003312 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0005019 ORPHA:3144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0005616 ORPHA:3144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0008108 ORPHA:3144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0008479 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0008873 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3144 Schneckenbecken dysplasia HP:0012107 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0000010 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0000246 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0000508 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0000819 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0001581 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0001618 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0001873 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0001881 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0001903 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0002014 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0002015 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0002094 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0002110 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0002205 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0003473 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0004313 ORPHA:169105 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0010515 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0012735 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0100522 ORPHA:169105 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169105 Good syndrome HP:0100721 ORPHA:169105 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000347 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000405 ORPHA:3145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000494 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000670 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000823 ORPHA:3145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0001249 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0001263 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0001376 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0001939 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0002514 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0004322 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0009738 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0009806 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0010669 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0011069 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0001942 ORPHA:941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0002448 ORPHA:941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0012379 ORPHA:941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0000252 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0000750 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0001249 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0001250 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0001257 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0002154 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0003108 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0008947 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0001263 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0030781 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0500230 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0000253 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0000365 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0000729 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0001336 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0002072 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0002079 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0007185 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0008288 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0011344 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0012444 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0012736 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:941 D-glyceric aciduria HP:0100704 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0000013 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0000130 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0000137 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0000141 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0000252 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0000924 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0000944 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0001182 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0001367 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0001595 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0002289 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0002815 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0002823 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0002970 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0003019 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0003063 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0003272 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0003307 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0004322 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0005930 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0008724 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0009806 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0011964 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3130 Satoyoshi syndrome HP:0200102 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0000218 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0001265 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0001288 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0001319 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0002093 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0003325 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0003327 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0003557 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0003722 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0003803 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0009027 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0010628 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0030198 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0000275 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0000347 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0000470 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0000508 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0000767 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0000774 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0001349 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0001371 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0001561 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0002375 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0002515 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0002650 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0002804 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0002827 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0002857 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0002877 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0002970 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0003198 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0003236 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0003306 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0003307 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0003798 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0011968 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0030196 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0030200 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171436 Typical nemaline myopathy HP:0002808 ORPHA:171436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0003324 ORPHA:171433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0003798 ORPHA:171433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0006829 ORPHA:171433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0000765 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0001265 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0001270 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0001371 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0001558 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0001561 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0002015 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0002058 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0002355 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0002375 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0002878 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0003202 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0003458 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0003803 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0005855 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0010628 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0000316 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0000343 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0000369 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0000602 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0001284 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0001349 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0001622 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0002705 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0002804 ORPHA:171433 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171433 Intermediate nemaline myopathy HP:0001638 ORPHA:171433 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0000765 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0001270 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0001371 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0001558 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0001561 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0001623 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0002015 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0002375 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0002878 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0003202 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0003327 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0003798 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0003803 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0005855 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0006829 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0009025 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0010628 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0000047 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0000054 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0000239 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0000369 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0000602 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0000775 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0000883 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0001181 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0001349 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0001622 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0002089 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0002804 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171430 Severe congenital nemaline myopathy HP:0007514 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0000252 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0000325 ORPHA:939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0000340 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0000343 ORPHA:939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0000347 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0001250 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0001511 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0002119 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0002120 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0002514 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0003128 ORPHA:939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0000044 ORPHA:939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0007360 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0007370 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:939 3-hydroxyisobutyric aciduria HP:0008551 ORPHA:939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000252 ORPHA:3132 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0001263 ORPHA:3132 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0001999 ORPHA:3132 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0005432 ORPHA:3132 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000135 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000218 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000340 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000347 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000400 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000411 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000426 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000444 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000750 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0001363 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0002650 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0002654 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0002987 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0003065 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0004313 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0005001 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0006380 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0012219 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0012490 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0040238 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000028 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000233 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000316 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000368 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000455 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000490 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000510 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000582 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000608 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000648 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000670 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000692 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0000964 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0001007 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0001193 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0001583 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0001772 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0002313 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0002553 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0002827 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0002843 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0003487 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0004315 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0004322 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0005659 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0006895 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0007034 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0007105 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0009553 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0011431 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0011448 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0031008 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3132 Say-Barber-Miller syndrome HP:0045075 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000023 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000028 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000048 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000051 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000054 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000280 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000286 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000343 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000368 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000465 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000470 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000486 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000494 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000508 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000768 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000879 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0000973 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0001256 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0001363 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0001537 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0001540 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0002162 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0003312 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0005692 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0006297 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0006610 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0008070 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0011084 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0012028 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0012810 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0002342 ORPHA:3134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3134 SCARF syndrome HP:0002557 ORPHA:3134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0000023 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0000767 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0000944 ORPHA:935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0001732 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0001888 ORPHA:935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0001903 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0002024 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0002205 ORPHA:935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0002213 ORPHA:935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0002251 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0003085 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0004349 ORPHA:935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0004422 ORPHA:935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0004430 ORPHA:935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0004432 ORPHA:935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0005374 ORPHA:935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0011364 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0100543 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:930 Idiopathic achalasia HP:0002015 ORPHA:930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:930 Idiopathic achalasia HP:0001824 ORPHA:930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:930 Idiopathic achalasia HP:0002020 ORPHA:930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:930 Idiopathic achalasia HP:0012387 ORPHA:930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:930 Idiopathic achalasia HP:0012735 ORPHA:930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:930 Idiopathic achalasia HP:0100749 ORPHA:930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:930 Idiopathic achalasia HP:0002100 ORPHA:930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:930 Idiopathic achalasia HP:0004395 ORPHA:930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:930 Idiopathic achalasia HP:0030828 ORPHA:930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:930 Idiopathic achalasia HP:0031085 ORPHA:930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000280 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000365 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000486 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000518 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000618 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000639 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000717 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001004 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001249 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001250 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001252 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001257 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001263 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001321 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001640 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002019 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002020 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002120 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002169 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002321 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002376 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002445 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002650 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0006532 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0009830 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0010471 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0011276 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0012471 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0000023 ORPHA:932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0000256 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0000343 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0000347 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0000463 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0000470 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0000474 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0000476 ORPHA:932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0000774 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0001537 ORPHA:932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0001561 ORPHA:932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0001789 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0002007 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0030680 ORPHA:932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0002652 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0002983 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0003196 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0003336 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0003510 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0004348 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0006703 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0010306 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:932 Achondrogenesis HP:0012368 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0003063 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0004050 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0004299 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0004397 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0009751 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0009882 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0011675 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0100490 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0100783 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0001167 ORPHA:3138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0001231 ORPHA:3138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0002221 ORPHA:3138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0004370 ORPHA:3138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0006495 ORPHA:3138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0000028 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0000130 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0000144 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0000823 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0001513 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0002557 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0003019 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0004322 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0008736 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0000089 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0000668 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0000768 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0000889 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0000912 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0001162 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0005916 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0001601 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0001629 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0001800 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0002021 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0002023 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3138 Ulnar-mammary syndrome HP:0002818 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:931 Acheiropodia HP:0000944 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:931 Acheiropodia HP:0002990 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:931 Acheiropodia HP:0003974 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:931 Acheiropodia HP:0003982 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:931 Acheiropodia HP:0004050 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:931 Acheiropodia HP:0005792 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:931 Acheiropodia HP:0005930 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:931 Acheiropodia HP:0009813 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0000975 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0001182 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0001810 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0001842 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0002645 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0002797 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0002815 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0003028 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0003103 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0003202 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0003272 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0003307 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0004349 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0005930 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0008391 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:972 Hereditary continuous muscle fiber activity HP:0000776 ORPHA:972 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:972 Hereditary continuous muscle fiber activity HP:0001250 ORPHA:972 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:972 Hereditary continuous muscle fiber activity HP:0001251 ORPHA:972 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:972 Hereditary continuous muscle fiber activity HP:0001260 ORPHA:972 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:972 Hereditary continuous muscle fiber activity HP:0001350 ORPHA:972 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:972 Hereditary continuous muscle fiber activity HP:0002064 ORPHA:972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:972 Hereditary continuous muscle fiber activity HP:0003236 ORPHA:972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:972 Hereditary continuous muscle fiber activity HP:0003457 ORPHA:972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:972 Hereditary continuous muscle fiber activity HP:0003803 ORPHA:972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:972 Hereditary continuous muscle fiber activity HP:0100022 ORPHA:972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0000083 ORPHA:971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0000175 ORPHA:971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0000347 ORPHA:971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0000478 ORPHA:971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0000504 ORPHA:971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0001171 ORPHA:971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0002992 ORPHA:971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0040071 ORPHA:971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0006501 ORPHA:971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0008678 ORPHA:971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:971 Acrorenal syndrome HP:0012210 ORPHA:971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0001876 ORPHA:86843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0011974 ORPHA:86843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0001324 ORPHA:86843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0012129 ORPHA:86843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0012143 ORPHA:86843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0012378 ORPHA:86843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0031020 ORPHA:86843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0003419 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0004808 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0004820 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0005528 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0031385 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0031386 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0100827 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0001744 ORPHA:86843 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0002863 ORPHA:86841 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0001877 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0001894 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0001972 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0012133 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0012143 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0025435 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0031020 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0031385 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0001882 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0001892 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0004808 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0005528 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0011273 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0011992 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0012129 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0012148 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0031035 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0010896 ORPHA:3129 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0010897 ORPHA:3129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0000486 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0000648 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0000712 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0001251 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0001256 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0001263 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0001270 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0001639 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0001642 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0002069 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0002273 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0002360 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0002371 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0002465 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0007875 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0008610 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0008947 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0010522 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0011727 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3129 Sarcosinemia HP:0100022 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0002863 ORPHA:98826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0010972 ORPHA:98826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0001972 ORPHA:98826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0012133 ORPHA:98826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0012150 ORPHA:98826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0012378 ORPHA:98826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0001895 ORPHA:98826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0001897 ORPHA:98826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0002094 ORPHA:98826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0005528 ORPHA:98826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0030872 ORPHA:98826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0001873 ORPHA:98826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0001875 ORPHA:98826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98826 Refractory anemia HP:0001892 ORPHA:98826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98827 Unclassified myelodysplastic syndrome HP:0002863 ORPHA:98827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98827 Unclassified myelodysplastic syndrome HP:0001871 ORPHA:98827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98827 Unclassified myelodysplastic syndrome HP:0012148 ORPHA:98827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98827 Unclassified myelodysplastic syndrome HP:0012378 ORPHA:98827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98827 Unclassified myelodysplastic syndrome HP:0045040 ORPHA:98827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98827 Unclassified myelodysplastic syndrome HP:0001974 ORPHA:98827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98827 Unclassified myelodysplastic syndrome HP:0002960 ORPHA:98827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98827 Unclassified myelodysplastic syndrome HP:0005528 ORPHA:98827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98827 Unclassified myelodysplastic syndrome HP:0030166 ORPHA:98827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98827 Unclassified myelodysplastic syndrome HP:0004808 ORPHA:98827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000023 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000028 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000160 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000233 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000252 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000348 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000444 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000494 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000508 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000512 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000649 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000678 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000768 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000774 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000790 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0000823 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0001053 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0001156 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0001249 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0001250 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0001263 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0001511 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0002230 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0002650 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0002808 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0002983 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0003196 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0004209 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0005048 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0009623 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0009811 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0010049 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0010579 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0100542 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0100734 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3121 Ruvalcaba syndrome HP:0200055 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0000160 ORPHA:969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0000179 ORPHA:969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0000311 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0000343 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0000414 ORPHA:969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0000463 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0000527 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0000534 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0000762 ORPHA:969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0001156 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0001387 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0001609 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0002750 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0002823 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0003196 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0003300 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0003510 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0004279 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0005900 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0005930 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0010049 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:969 Acromicric dysplasia HP:0200055 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0001156 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0001387 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0002167 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0002644 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0002650 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0002827 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0002999 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0003028 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0003042 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0003086 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0006011 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0006014 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0007598 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0008368 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0008890 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0009778 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0010049 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0100543 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0002161 ORPHA:3124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0011021 ORPHA:3124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0001507 ORPHA:3124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0003297 ORPHA:3124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0004322 ORPHA:3124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0001250 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0001256 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0001264 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0001268 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0001337 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0001987 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0002066 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0002936 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0003131 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0011966 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0012758 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0032397 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0100543 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3124 Saccharopinuria HP:0500151 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000040 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000098 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000158 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000179 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000276 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000280 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000293 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000303 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000337 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000400 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000445 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000818 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000830 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000845 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000975 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001072 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001176 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001182 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001386 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001769 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001869 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0002758 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0002829 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0003859 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0004099 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0006191 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0011760 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0012378 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000044 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000164 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000664 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000687 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000716 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000739 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000819 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000822 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001231 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001609 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0002007 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0002076 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0002230 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0002808 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0003401 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0003416 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0008388 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0010535 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0012802 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0100021 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0100540 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0100607 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000802 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0000956 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001061 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001639 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0001653 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0006767 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0007440 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0030265 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0100518 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0100786 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:963 Acromegaly HP:0100829 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0007359 ORPHA:98820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0011185 ORPHA:98820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0002069 ORPHA:98820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0025373 ORPHA:98820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0031951 ORPHA:98820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0000708 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0000729 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0000980 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0001249 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0002349 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0002367 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0002384 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0002427 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0003401 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0008765 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0010841 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0012005 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0012469 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0012531 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0031284 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0032046 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0100543 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0002126 ORPHA:98820 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0002521 ORPHA:98820 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0007206 ORPHA:98820 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98820 Familial focal epilepsy with variable foci HP:0011171 ORPHA:98820 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0000316 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0000414 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0001249 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0001263 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0001837 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0002119 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0002714 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0004209 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0004322 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0004474 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0007560 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0008386 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0009748 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0001274 ORPHA:262767 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0001305 ORPHA:262767 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0002079 ORPHA:262767 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0001250 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0001276 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0001336 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0001561 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0001999 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0002365 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0002804 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0002871 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0004887 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0006955 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0011451 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0000340 ORPHA:166063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0000347 ORPHA:166063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0011800 ORPHA:166063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0000520 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0000929 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0001274 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0001360 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0001561 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0002683 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0005466 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0007360 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0012443 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0000369 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0005280 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0009800 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0010627 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0011756 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0011821 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563612 Isolated exencephaly HP:0030244 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0010972 ORPHA:86839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0012378 ORPHA:86839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0001017 ORPHA:86839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0001945 ORPHA:86839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0001962 ORPHA:86839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0002875 ORPHA:86839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0000573 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0001873 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0001892 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0001974 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0002653 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0004808 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0005528 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0005561 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0010741 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0010876 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0012116 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0012136 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0012148 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0012150 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0025065 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86839 Refractory anemia with excess blasts HP:0031035 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000407 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001251 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001263 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001270 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001738 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001999 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0002342 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0003693 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000219 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000248 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000309 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000577 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000819 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001155 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001310 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001319 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001508 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001530 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001760 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001771 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0002353 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0002460 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0005484 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0009623 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0010628 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0100307 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0100807 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000049 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000316 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000821 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000823 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001374 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001558 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001772 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001844 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0002123 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0002240 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0003431 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0003448 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0006276 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0008366 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0009463 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0009464 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0009473 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0012418 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0030146 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0030951 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0100800 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000085 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0001172 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0002818 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0004712 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0004736 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0006501 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0009650 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0009778 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000015 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000405 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000407 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000486 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000505 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000588 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0001177 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0001199 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0001852 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0003022 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0004059 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0007766 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0008678 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0010059 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0010109 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0012745 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000076 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000286 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000316 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000482 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000508 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000518 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000567 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000568 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000589 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000612 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0000639 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0001636 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0001770 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0001883 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0002251 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0002948 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0003422 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0005792 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0006101 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:959 Acro-renal-ocular syndrome HP:0008897 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0001250 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002371 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002381 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002463 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0011098 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0025373 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0030391 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0031491 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0000708 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0000729 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002121 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002376 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0007018 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0007086 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0009088 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0011153 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0011198 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0012015 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0012018 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0025190 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0000712 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0000716 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0000718 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0000736 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0000739 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0000752 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0001350 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002066 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002069 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002300 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002354 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002359 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002360 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0002384 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0003376 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0003698 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0007270 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0011166 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0011169 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0031951 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0032671 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0100710 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0030057 ORPHA:98818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98818 Landau-Kleffner syndrome HP:0200134 ORPHA:98818 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001266 ORPHA:98811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001332 ORPHA:98811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0007166 ORPHA:98811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001249 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001250 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001304 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0002121 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0003401 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0004305 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0006801 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0000718 ORPHA:98811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0000737 ORPHA:98811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001251 ORPHA:98811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001328 ORPHA:98811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0002072 ORPHA:98811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001256 ORPHA:98811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0002061 ORPHA:98811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000023 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000047 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000160 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000164 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000175 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000233 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000238 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000256 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000268 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000269 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000277 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000280 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000293 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000294 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000316 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000343 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000347 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000365 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000369 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000431 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000445 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000463 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000470 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000494 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000506 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000518 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000545 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000574 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000612 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000664 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000704 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000768 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000823 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000929 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000938 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000939 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0000958 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001072 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001156 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001231 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001508 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001537 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001608 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001629 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001643 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001650 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001718 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001744 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001831 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0001999 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002205 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002208 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002230 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002240 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002308 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002315 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0030680 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002566 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002645 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002650 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002652 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002653 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002688 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002691 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002714 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002757 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002797 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002808 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002829 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0002999 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0003396 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0004322 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0004331 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0004586 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0005562 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0005692 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0006487 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0008424 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0009830 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0009882 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0010669 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0010807 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0011305 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0100670 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0100790 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:955 Hajdu-Cheney syndrome HP:0200042 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3111 Rotor syndrome HP:0000952 ORPHA:3111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3111 Rotor syndrome HP:0002908 ORPHA:3111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3111 Rotor syndrome HP:0012379 ORPHA:3111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3111 Rotor syndrome HP:0002904 ORPHA:3111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3111 Rotor syndrome HP:0010473 ORPHA:3111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3111 Rotor syndrome HP:0031811 ORPHA:3111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3111 Rotor syndrome HP:0001046 ORPHA:3111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3111 Rotor syndrome HP:0032106 ORPHA:3111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3111 Rotor syndrome HP:0000989 ORPHA:3111 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3111 Rotor syndrome HP:0031137 ORPHA:3111 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000202 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000218 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000275 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000322 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000347 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000368 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000470 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000494 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000768 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000776 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000813 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000882 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000883 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000889 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0000912 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0001171 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0001511 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0001562 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0001839 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0002089 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0002101 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0002575 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0002650 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0002808 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0002827 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0002937 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0002984 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0003022 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0003316 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0003762 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0004408 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0006101 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0006381 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0006426 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0008678 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0010295 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:958 Acro-renal-mandibular syndrome HP:0010669 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0000175 ORPHA:957 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0000767 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0001199 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0001256 ORPHA:957 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0002414 ORPHA:957 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0002705 ORPHA:957 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0005048 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0006101 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0008368 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0009882 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0011304 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:957 Acropectorovertebral dysplasia HP:0100490 ORPHA:957 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0000164 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0000190 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0000668 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0000698 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0001162 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0001231 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0001792 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0001800 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0002006 ORPHA:952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0003502 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0004209 ORPHA:952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0006288 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0006315 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0008388 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0008404 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0009738 ORPHA:952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0010557 ORPHA:952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0100797 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:952 Acrofacial dysostosis, Weyers type HP:0200055 ORPHA:952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0000639 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0001284 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0001761 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0001762 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002066 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002070 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002174 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002312 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002317 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002355 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002495 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002650 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002751 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0003431 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0003474 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0003693 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0007131 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0007141 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0007328 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0007340 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002359 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002839 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0002857 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0003202 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0003487 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3115 Roussy-Lévy syndrome HP:0008954 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563609 Isolated anencephaly HP:0000835 ORPHA:563609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563609 Isolated anencephaly HP:0001511 ORPHA:563609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563609 Isolated anencephaly HP:0000776 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563609 Isolated anencephaly HP:0001539 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563609 Isolated anencephaly HP:0009800 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563609 Isolated anencephaly HP:0010516 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563609 Isolated anencephaly HP:0030244 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563609 Isolated anencephaly HP:0410030 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0001332 ORPHA:98810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0007166 ORPHA:98810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0001266 ORPHA:98810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0002072 ORPHA:98810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0002487 ORPHA:98810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0004305 ORPHA:98810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0000211 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0000473 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0001387 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0002063 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0002094 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0002167 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0003324 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0025401 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0100660 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0000099 ORPHA:93126 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0000083 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0000093 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0002907 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0003259 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0011944 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0012213 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0032230 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0000096 ORPHA:93126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0000951 ORPHA:93126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0001945 ORPHA:93126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0002086 ORPHA:93126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0008653 ORPHA:93126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0000478 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0000979 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0001609 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0001919 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0001970 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0002027 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0002087 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0002094 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0002829 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0003493 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0004930 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0012089 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0012587 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0012593 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0012735 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0040223 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0000155 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0001626 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0001733 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0011024 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0032018 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0100532 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0002955 ORPHA:93126 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:93126 Pauci-immune glomerulonephritis HP:0032616 ORPHA:93126 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0001892 ORPHA:98892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0002020 ORPHA:98892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0002021 ORPHA:98892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0002650 ORPHA:98892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0100790 ORPHA:98892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0000963 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0001382 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0001643 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0001654 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0001659 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0007165 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0007359 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0012639 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0004942 ORPHA:98892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0002999 ORPHA:98892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98892 Periventricular nodular heterotopia HP:0003834 ORPHA:98892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0000282 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001873 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001945 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002014 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002315 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002910 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0003326 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0025258 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0025439 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0031691 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0000083 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0000707 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0000988 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001259 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001289 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001882 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001888 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001942 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001974 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002013 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002018 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002907 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0003645 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0007430 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0011227 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0011896 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0025435 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0031273 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0031364 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0040186 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0100520 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0100749 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0000613 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0000739 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0000975 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0000979 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001250 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001268 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001324 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0001662 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002015 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002069 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002098 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002181 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002322 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002329 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0002615 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0004787 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0009830 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0012384 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0012819 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0025145 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0030139 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0030830 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0031246 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0032043 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0032155 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0100539 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319213 Lujo hemorrhagic fever HP:0100750 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0000127 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0000841 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0000848 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0000859 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001960 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0002900 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0004727 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0008619 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001252 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001270 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001324 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001508 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001518 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001561 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001622 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0002150 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0002902 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0002917 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0003081 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0003113 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0003527 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0012622 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0025335 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0031936 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0000121 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0000712 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001525 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001919 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0001944 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0002013 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0002312 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0003774 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0040288 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0000325 ORPHA:89938 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0000411 ORPHA:89938 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:89938 Bartter syndrome type 4 HP:0000822 ORPHA:89938 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0000529 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0000543 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0000551 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0000603 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0000648 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0007663 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0000639 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0000712 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0000762 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0001249 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0001266 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0002066 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0002075 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0002080 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0003487 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0012164 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98890 Early-onset X-linked optic atrophy HP:0012638 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0000117 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0002148 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0002748 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0003127 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0003155 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0006490 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0000694 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0000897 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0001510 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0002653 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0002829 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0002857 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0002970 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0002979 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0003498 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0003856 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0004349 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0005930 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0006487 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0008117 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0008144 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0010299 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0025335 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0030757 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0031936 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0000920 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0000923 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0001363 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0001369 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0001376 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0002007 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0002869 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0006432 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0008442 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0012449 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0025369 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0100686 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0000407 ORPHA:89936 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0002308 ORPHA:89936 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0005789 ORPHA:89936 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:89936 X-linked hypophosphatemia HP:0100658 ORPHA:89936 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002148 ORPHA:89937 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0003109 ORPHA:89937 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0001324 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0001510 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0001891 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002653 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002748 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002749 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002979 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0003155 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0012378 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0030757 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0100512 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0020110 ORPHA:89937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002901 ORPHA:89937 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000316 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000431 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000445 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000463 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001156 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002983 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0003196 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0004279 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0008736 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0011800 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000028 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000059 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000060 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000064 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000168 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000212 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000256 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000278 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000286 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000343 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000347 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000520 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000527 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000582 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000637 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000767 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001537 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002007 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002705 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002714 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002937 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0003312 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0003510 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0004209 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0004322 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0005280 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0007665 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0008501 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0010297 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0010807 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0011220 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0012905 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000023 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000036 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000039 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000047 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000322 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000358 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000365 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000369 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000470 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000486 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000494 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000508 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000592 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000668 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000674 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000677 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000768 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000960 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001249 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001263 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001328 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001385 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001596 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002650 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002673 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002812 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002827 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0003042 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0005306 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0005743 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0006101 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0008402 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0010733 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0011069 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0040036 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0100490 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0100541 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3107 Autosomal dominant Robinow syndrome HP:0100798 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000505 ORPHA:909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001118 ORPHA:909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0012379 ORPHA:909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000543 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000639 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000649 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000708 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000762 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000939 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001138 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001167 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001249 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001250 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001251 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001257 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001260 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001288 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001317 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001328 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001332 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001347 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001761 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002028 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002071 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002310 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002385 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002453 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002992 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0003487 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0003693 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0005109 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0006958 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0007256 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0007272 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0007377 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0008046 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0009830 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0010874 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0011931 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0012758 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0012896 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0030890 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0100543 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0100872 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000464 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000492 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000520 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000648 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000713 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000716 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000717 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000718 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000736 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000738 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000821 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0000938 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001081 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001155 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001272 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0001300 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002151 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002171 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002283 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002322 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002423 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002659 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002823 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002942 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0004416 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0005181 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0006480 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0006579 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0007018 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0007305 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0007495 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0007922 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0008516 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0009811 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0011994 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0012075 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0012706 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0012707 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0031589 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0040078 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0100321 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0200125 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002088 ORPHA:909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002196 ORPHA:909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0002313 ORPHA:909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0003474 ORPHA:909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:909 Cerebrotendinous xanthomatosis HP:0010530 ORPHA:909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000053 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000246 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000256 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000275 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000276 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000303 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000388 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000389 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000411 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000486 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000717 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0000739 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0001250 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0001252 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0001388 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0001634 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0001763 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0002003 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0002007 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0002020 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0002120 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0002167 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0002342 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0003564 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0004970 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0007018 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:908 Fragile X syndrome HP:0100716 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0000077 ORPHA:3109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0000085 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0000086 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0000122 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0000151 ORPHA:3109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0002948 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0003312 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0003422 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0005107 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0008726 ORPHA:3109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0000140 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0000716 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0000718 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0000952 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0000978 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0000989 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001155 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001249 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001260 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001369 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001386 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001394 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001397 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001508 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001744 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001824 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001873 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0001903 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0002240 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0002312 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0002355 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0002653 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0002756 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0002829 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0002910 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0003418 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0004324 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0006554 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0008994 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0012115 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0030214 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0200032 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:905 Wilson disease HP:0200119 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001263 ORPHA:480880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002342 ORPHA:480880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000119 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000453 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000478 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001305 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002023 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002079 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002536 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0004322 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0007483 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0008947 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0100259 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000110 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000126 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000164 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000175 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000212 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000218 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000219 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000248 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000324 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000341 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000343 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000365 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000368 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000369 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000431 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000448 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000454 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000483 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000486 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000494 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000506 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000518 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000540 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000545 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000582 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000692 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000823 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000938 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000960 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000998 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001182 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001238 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001250 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001320 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001321 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001374 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001376 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001385 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001388 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001631 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001638 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001643 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001761 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001763 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001773 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001822 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001845 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002098 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002119 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002198 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002212 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002355 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002365 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002557 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002650 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002664 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002944 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0004095 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0004298 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0005272 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0005280 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0005722 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0007360 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0010499 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0011220 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0011968 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0012444 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0012471 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0012745 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0012810 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0030925 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0030928 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0031508 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0100890 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0200055 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0200117 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0410026 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000010 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000014 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000015 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000023 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000025 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000028 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000044 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000075 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000076 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000083 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000089 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000093 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000121 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000125 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000147 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000154 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000158 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000179 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000212 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000232 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000252 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000275 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000280 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000286 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000307 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000337 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000343 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000347 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000348 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000368 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000389 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000400 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000407 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000411 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000431 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000464 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000485 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000486 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000501 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000505 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000518 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000545 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000581 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000627 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000632 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000635 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000668 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000670 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000682 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000689 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000691 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000716 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000717 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000722 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000739 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000767 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000787 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000821 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000822 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000826 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000938 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000939 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0000960 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001052 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001081 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001136 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001181 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001231 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001249 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001251 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001252 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001257 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001260 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001288 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001297 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001310 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001337 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001347 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001361 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001387 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001388 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001513 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001531 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001537 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001582 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001608 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001609 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001618 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001626 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001629 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001631 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001634 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001635 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001636 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001639 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001640 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001642 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001643 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001645 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001647 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001653 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001658 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001671 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001763 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001800 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001822 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0001969 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002017 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002019 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002020 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002024 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002027 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002035 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002071 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002120 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002141 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002150 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002167 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002183 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002205 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002253 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002308 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002376 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002575 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002623 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002637 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002644 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002650 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002750 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002808 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002829 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002857 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002974 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0002999 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0003028 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0003072 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0003119 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0003196 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0003198 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0003236 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0003298 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0003307 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0003312 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0003422 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0004209 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0004295 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0004305 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0004306 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0004322 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0004381 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0004398 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0004428 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0004969 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0005113 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0005344 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0005562 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0005692 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0005978 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0006482 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0007018 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0007372 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0007477 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0007495 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0007720 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0007957 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0008053 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0008499 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0008661 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0008736 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0010526 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0010662 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0010669 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0010780 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0010807 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0010880 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0011001 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0012433 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0012639 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0100025 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0100240 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0100539 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0100545 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0100613 ORPHA:904 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0100659 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0100785 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0100817 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:904 Williams syndrome HP:0200021 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0000238 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0000648 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0001321 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0002085 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0002282 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0002365 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0002500 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0007260 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0011344 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0012447 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0032398 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0001250 ORPHA:352682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0003457 ORPHA:352682 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000112 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000140 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000225 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000246 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000388 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000389 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000421 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000491 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000498 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000509 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000778 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000964 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000967 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000978 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0000979 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001025 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001287 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001328 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001369 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001645 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001873 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001875 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001878 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001879 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001888 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001903 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001935 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0001945 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002028 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002037 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002094 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002170 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002205 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002248 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002488 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002573 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002633 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002664 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002665 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002721 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0002960 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0003010 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0005558 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0006510 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0006535 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0007420 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0009830 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0011029 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0011675 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0011869 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0011875 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0012378 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0100749 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0100774 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0100806 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0100820 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:906 Wiskott-Aldrich syndrome HP:0200042 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:901 Wells syndrome HP:0000989 ORPHA:901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:901 Wells syndrome HP:0100658 ORPHA:901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:901 Wells syndrome HP:0000969 ORPHA:901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:901 Wells syndrome HP:0001880 ORPHA:901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:901 Wells syndrome HP:0008066 ORPHA:901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:901 Wells syndrome HP:0200037 ORPHA:901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:901 Wells syndrome HP:0001945 ORPHA:901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:901 Wells syndrome HP:0002829 ORPHA:901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:901 Wells syndrome HP:0002633 ORPHA:901 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0000640 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0000716 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0000739 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0001260 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0001618 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002019 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002066 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002068 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002070 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002073 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002136 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002172 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002174 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002310 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002359 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0012332 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002494 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002530 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0004926 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0005341 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0007256 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0008652 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0010307 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0010536 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0010545 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0012658 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0012670 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0030015 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0030880 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0000741 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0001300 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002063 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002067 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002322 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227510 Multiple system atrophy, cerebellar type HP:0100595 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000024 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000071 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000083 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000093 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000126 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000163 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000246 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000366 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000388 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000389 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000407 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000421 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000488 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000505 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000520 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000763 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000790 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000822 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000864 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000873 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000979 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0000988 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0001250 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0001287 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0001681 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0001701 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0001733 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0001824 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0001945 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002017 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002027 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002091 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002093 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002102 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002105 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002113 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002205 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002206 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002239 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002301 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002315 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002633 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002637 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002829 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002955 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0002960 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0003326 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0003565 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0004936 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0005214 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0006510 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0006535 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0006824 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0009830 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0011227 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0011675 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0012378 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0012649 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0012735 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0100533 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0100539 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0100749 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0100758 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0100820 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0200034 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:900 Granulomatosis with polyangiitis HP:0200042 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002269 ORPHA:98889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0032407 ORPHA:98889 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000750 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001249 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001250 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001257 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001263 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001328 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001347 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001371 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002392 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002463 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0005684 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0007359 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0008947 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0012014 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0012017 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0020190 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0030319 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000252 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000347 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000365 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000453 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000639 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000767 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001260 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001310 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001320 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001349 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001511 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002015 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002020 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002061 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002104 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002307 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002385 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002509 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002510 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002835 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0007024 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0007033 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0007301 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0010808 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0011157 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0011755 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0011968 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0012015 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0012469 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0410011 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:903 Von Willebrand disease HP:0001633 ORPHA:903 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:903 Von Willebrand disease HP:0001872 ORPHA:903 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:903 Von Willebrand disease HP:0001928 ORPHA:903 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:903 Von Willebrand disease HP:0004097 ORPHA:903 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:903 Von Willebrand disease HP:0005293 ORPHA:903 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:903 Von Willebrand disease HP:0011869 ORPHA:903 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000768 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002187 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002751 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0004322 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0006462 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0011964 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0012899 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0012903 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001621 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002015 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002527 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0003712 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0005638 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0008422 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0009053 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0100288 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000565 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001265 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001284 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001840 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002540 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002857 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0003199 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0004568 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0007156 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000160 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000164 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000294 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000369 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000470 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000581 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001373 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001376 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001540 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001620 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3101 Richieri Costa-da Silva syndrome HP:0012368 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000135 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000444 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000518 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000765 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000939 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0001533 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0001608 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0002209 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0002211 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0002216 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0003777 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0004322 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0007495 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0010721 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0100578 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000035 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000144 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000275 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000855 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000934 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000962 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0001635 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0001658 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0001838 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0002621 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0003202 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0004415 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0005978 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0007618 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0007703 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0008065 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0009125 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0010468 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0011001 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0100585 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0100679 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0200042 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0200055 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000822 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0000869 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0001387 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0001601 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0002664 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0002672 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0002858 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0002860 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0002861 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0002890 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0003002 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0005268 ORPHA:902 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0009726 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0012056 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0012060 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0100242 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0100526 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0100615 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0100649 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0100659 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:902 Werner syndrome HP:0100833 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000028 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000040 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0008665 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000113 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000175 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000204 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000218 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000248 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000252 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000272 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000316 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000347 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000387 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000430 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000470 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000501 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000518 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000520 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000568 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000592 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0000639 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0001156 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0001239 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0001249 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0001263 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0001363 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0001561 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0001622 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0001852 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0001873 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0030680 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0002817 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0002974 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0002984 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0004209 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0005011 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0005048 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0005876 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0006101 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0006380 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0006443 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0006487 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0007452 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0007598 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0008070 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0008572 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0008846 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0008897 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0009466 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0009601 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0009623 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0009829 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0009891 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3103 Roberts syndrome HP:0009943 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0001347 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0002315 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0002344 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0002922 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0007305 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0030890 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0000565 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0000651 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0001250 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0001251 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0001298 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0001324 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0002013 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0002018 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0002172 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0002321 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0002516 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0011448 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59298 Schilder disease HP:0012229 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0000162 ORPHA:3104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0000164 ORPHA:3104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0000175 ORPHA:3104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0000275 ORPHA:3104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0000347 ORPHA:3104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0005916 ORPHA:3104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0040071 ORPHA:3104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0004209 ORPHA:3104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0001180 ORPHA:3104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0003312 ORPHA:3104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0001945 ORPHA:319218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0002014 ORPHA:319218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0010702 ORPHA:319218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0020071 ORPHA:319218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0100749 ORPHA:319218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0001882 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0001888 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0001892 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0002013 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0002015 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0002018 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0002027 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0002239 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0002249 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0002315 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0004396 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0012115 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0012735 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0025143 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0025439 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0040186 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0100806 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0001254 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0001735 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0001873 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0002094 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0002829 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0005521 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319218 Ebola hemorrhagic fever HP:0100247 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98880 Familial afibrinogenemia HP:0000225 ORPHA:98880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98880 Familial afibrinogenemia HP:0000421 ORPHA:98880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98880 Familial afibrinogenemia HP:0001342 ORPHA:98880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98880 Familial afibrinogenemia HP:0001386 ORPHA:98880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98880 Familial afibrinogenemia HP:0001892 ORPHA:98880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98880 Familial afibrinogenemia HP:0005268 ORPHA:98880 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:98880 Familial afibrinogenemia HP:0400008 ORPHA:98880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98881 Familial dysfibrinogenemia HP:0000225 ORPHA:98881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98881 Familial dysfibrinogenemia HP:0000421 ORPHA:98881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98881 Familial dysfibrinogenemia HP:0001892 ORPHA:98881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98881 Familial dysfibrinogenemia HP:0002239 ORPHA:98881 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98881 Familial dysfibrinogenemia HP:0004936 ORPHA:98881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002719 ORPHA:169154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001508 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001888 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0004429 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0005403 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0005407 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0005415 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0031381 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0045080 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0000155 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001019 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001433 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001596 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001875 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001880 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001945 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001973 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002028 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002716 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002783 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002788 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0003212 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0003237 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0003261 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0005401 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0010702 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0025526 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0040187 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0100827 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001324 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002061 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0003202 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0003693 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0006986 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0007354 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001264 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001276 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001332 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001348 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002167 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002355 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002460 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002483 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002540 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0003429 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0005750 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0031936 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0031960 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0100295 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0100360 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000020 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000252 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000605 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000639 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000708 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001251 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001263 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001300 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001317 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002015 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002072 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002169 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002179 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002425 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002530 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002544 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002599 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002650 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0003701 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0003722 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0004326 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0011471 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0012048 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0030051 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0100543 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0000175 ORPHA:1393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0000347 ORPHA:1393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0001591 ORPHA:1393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0002643 ORPHA:1393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0030282 ORPHA:1393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0000162 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0000405 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0000413 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0001249 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0001511 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0001522 ORPHA:1393 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0002779 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0002808 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0004322 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0011968 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0000003 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0000252 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0000465 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0001629 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0002132 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0002324 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0002414 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0002435 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0002475 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0002514 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0004209 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1393 Cerebrocostomandibular syndrome HP:0010290 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0002372 ORPHA:31709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0001250 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0001266 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0001332 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0002072 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0002305 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0002384 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0004305 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0007166 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0007359 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0011172 ORPHA:31709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0012002 ORPHA:31709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31709 Infantile convulsions and choreoathetosis HP:0410263 ORPHA:31709 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000174 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000272 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000278 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000286 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000366 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000368 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000494 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000508 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000512 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000545 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000662 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000664 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000670 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0001100 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0001156 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0001276 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0002650 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0004209 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0005692 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0007703 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0008046 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0100543 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0200021 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001324 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001508 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001639 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001640 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001712 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0002240 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0003236 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0008872 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0008947 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0010471 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0012379 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0025335 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0025336 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0025435 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0031964 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0032092 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0040329 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0000158 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0000183 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0000297 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001270 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001284 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0002093 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0002098 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0002747 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0002878 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0003324 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0003701 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0004887 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0005165 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0009805 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0011947 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0030148 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0000365 ORPHA:308552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001249 ORPHA:308552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313906 Congenital pancreatic cyst HP:0000952 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313906 Congenital pancreatic cyst HP:0001733 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313906 Congenital pancreatic cyst HP:0002013 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313906 Congenital pancreatic cyst HP:0002027 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313906 Congenital pancreatic cyst HP:0002039 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313906 Congenital pancreatic cyst HP:0003270 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000325 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000347 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001511 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001518 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0004209 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0004482 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0008872 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0008897 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0011220 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000045 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000047 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000175 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000369 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000750 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001159 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001270 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001562 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001626 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0009237 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000023 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000028 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000048 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000821 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000957 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001263 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001804 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001943 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0002007 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0002099 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0006266 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0007018 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0010442 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0030260 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0100257 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0100555 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0100607 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0000268 ORPHA:1399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0000365 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0000639 ORPHA:1399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0000815 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0001251 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0001268 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0001276 ORPHA:1399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0001288 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0001347 ORPHA:1399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0001387 ORPHA:1399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0002919 ORPHA:1399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0003693 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1399 Richards-Rundle syndrome HP:0004349 ORPHA:1399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0000762 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0001761 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0002355 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0002378 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0002936 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0003438 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0003482 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0007141 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0007340 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0008944 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0002166 ORPHA:352675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0003236 ORPHA:352675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0003376 ORPHA:352675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0003393 ORPHA:352675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0000407 ORPHA:352675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0001270 ORPHA:352675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1398 Isolated cerebellar agenesis HP:0000252 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1398 Isolated cerebellar agenesis HP:0000256 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1398 Isolated cerebellar agenesis HP:0000496 ORPHA:1398 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1398 Isolated cerebellar agenesis HP:0000708 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1398 Isolated cerebellar agenesis HP:0001250 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1398 Isolated cerebellar agenesis HP:0001251 ORPHA:1398 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1398 Isolated cerebellar agenesis HP:0001252 ORPHA:1398 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1398 Isolated cerebellar agenesis HP:0001276 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1398 Isolated cerebellar agenesis HP:0002167 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1398 Isolated cerebellar agenesis HP:0100022 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome HP:0000518 ORPHA:1397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome HP:0001249 ORPHA:1397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome HP:0001251 ORPHA:1397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome HP:0001252 ORPHA:1397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome HP:0012642 ORPHA:1397 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000252 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000256 ORPHA:276413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000286 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000308 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000316 ORPHA:276413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000369 ORPHA:276413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000463 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000494 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000582 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000601 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000717 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001166 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001249 ORPHA:276413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001250 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001263 ORPHA:276413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001321 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001508 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001643 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001704 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001883 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0002007 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0002308 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0002463 ORPHA:276413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0005280 ORPHA:276413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0005692 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0006695 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0007018 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0100444 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0100783 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0200008 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000154 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000175 ORPHA:1394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000204 ORPHA:1394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000248 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000256 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000286 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000289 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000316 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000368 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000445 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000470 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000486 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000494 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000574 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000664 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000774 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000892 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000902 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000912 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0001249 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0001320 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0001561 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002079 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002119 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002120 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002162 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002208 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002650 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002937 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0003196 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0003422 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0004322 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0010720 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0011800 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0100790 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0001386 ORPHA:98878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0002829 ORPHA:98878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0003125 ORPHA:98878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0005261 ORPHA:98878 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0011889 ORPHA:98878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0001907 ORPHA:98878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0007420 ORPHA:98878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0030140 ORPHA:98878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0002239 ORPHA:98878 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0009811 ORPHA:98878 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0012233 ORPHA:98878 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0030746 ORPHA:98878 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0002170 ORPHA:98878 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98878 Hemophilia A HP:0012223 ORPHA:98878 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0000790 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0001058 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0002170 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0003010 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0003645 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0004406 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0004846 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0005261 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0006298 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0011858 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0012233 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0012541 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0040232 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98879 Hemophilia B HP:0400008 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000278 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000490 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000750 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0001263 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0001999 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0007371 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0100275 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000212 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000253 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000322 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000649 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0001212 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0001265 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002059 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002187 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002509 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002650 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0031954 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000294 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000347 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000377 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000483 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000486 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000545 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000565 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000648 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0001045 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002023 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002353 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0008755 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0100704 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0001903 ORPHA:98870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0004447 ORPHA:98870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0011273 ORPHA:98870 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0001877 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0002904 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0003452 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0005518 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0012130 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0012378 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0025035 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0025196 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0025354 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0000225 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0000980 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0002249 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0002315 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0002910 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0011891 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0030140 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0004322 ORPHA:98870 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000028 ORPHA:1381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000047 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000174 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000486 ORPHA:1381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000518 ORPHA:1381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000639 ORPHA:1381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0001249 ORPHA:1381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0001636 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0002023 ORPHA:1381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0002857 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0008063 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0008736 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000712 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000716 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000737 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001257 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001260 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001300 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001347 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002063 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002451 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002493 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0004373 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0008760 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0100710 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000722 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001288 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001337 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002015 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002072 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002167 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0007256 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0012048 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0030216 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0100543 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000488 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000618 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000648 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000709 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002312 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002359 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0012473 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0000124 ORPHA:1380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0000518 ORPHA:1380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0000639 ORPHA:1380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0001249 ORPHA:1380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0001250 ORPHA:1380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0004322 ORPHA:1380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0012490 ORPHA:86884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0030350 ORPHA:86884 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0001433 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0001824 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0001945 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0003256 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0012156 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0012378 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0025143 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0025474 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0200042 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0003198 ORPHA:171442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0003458 ORPHA:171442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0003798 ORPHA:171442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0002067 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0003326 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0003484 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0003557 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0003722 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0003803 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0009058 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0031047 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0000218 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0000275 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0000276 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0000347 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0001265 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0001371 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0001644 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0002068 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0002355 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0002483 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0002747 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0002792 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0003552 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0007340 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0010546 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0011968 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0008180 ORPHA:171442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171442 Adult-onset nemaline myopathy HP:0007010 ORPHA:171442 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002460 ORPHA:329478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0000726 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0001437 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002344 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002355 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002359 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002380 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003326 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003394 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003458 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003691 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003805 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0008180 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0008954 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0008978 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0009005 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0009027 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0012548 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0000020 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0000716 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0000739 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0000762 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0001300 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0001337 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0001349 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002607 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003418 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002792 ORPHA:329478 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0001638 ORPHA:329478 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003701 ORPHA:329478 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0000174 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0000308 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0000343 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0000649 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0001162 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0001249 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0001276 ORPHA:1389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0001347 ORPHA:1389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0002205 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0003196 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0004322 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0004326 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0011220 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0100704 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0000162 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0000175 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0000272 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0000293 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0000316 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0000347 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0000368 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0000389 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0000767 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0001387 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0001508 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0001629 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0001631 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0002119 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0002553 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0030680 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0002650 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0004209 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0004322 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0005692 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0005930 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0009467 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0010285 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0010508 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1388 Catel-Manzke syndrome HP:0100490 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0000975 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0000989 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0001744 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0001824 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0001945 ORPHA:86893 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0002039 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0002240 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0002665 ORPHA:86893 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0002716 ORPHA:86893 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0002721 ORPHA:86893 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0003002 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0005561 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0012191 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0012378 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002960 ORPHA:37042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000818 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000964 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000976 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001531 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001891 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002242 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0003111 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0003212 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0005208 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0007473 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0011123 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0012393 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0025379 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0031401 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0100646 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0100651 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000821 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001025 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001581 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001875 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001890 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001904 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001970 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001973 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002013 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002024 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002098 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002205 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002719 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002901 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002910 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002917 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0003073 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0003765 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0004326 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0006515 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0008066 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0008404 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0012115 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0012578 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0030909 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0031085 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0031104 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0031123 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000100 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000836 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001287 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001596 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001744 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002090 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002583 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002595 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002716 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002754 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0005263 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0025156 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0040288 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0100614 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0100806 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000028 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000044 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000218 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000221 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000232 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000248 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000252 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000272 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000322 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000347 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000368 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000518 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000601 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000692 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0001155 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0001249 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0002120 ORPHA:1387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0002162 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0002650 ORPHA:1387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0003307 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0004322 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0005280 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0007477 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0007495 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0008388 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0008872 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0009465 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0009738 ORPHA:1387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0009832 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0011800 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001987 ORPHA:927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002013 ORPHA:927 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002018 ORPHA:927 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0008947 ORPHA:927 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000713 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000739 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001250 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001254 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001259 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001263 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001289 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001508 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000712 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002315 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002329 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002465 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0003217 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0003348 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0004396 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0007185 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0008281 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0011968 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0012378 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0100543 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0100785 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000252 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000708 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000725 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000733 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001251 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001271 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001297 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001298 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002014 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002098 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002240 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002637 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002863 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0006582 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0010529 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0010550 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0031258 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0001258 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0001288 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0002064 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0002395 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0003155 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0003324 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0003445 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0003487 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0002653 ORPHA:329475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0002757 ORPHA:329475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0002829 ORPHA:329475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0004563 ORPHA:329475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0011842 ORPHA:329475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0001308 ORPHA:329475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0007289 ORPHA:329475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001284 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001290 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001349 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001371 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001533 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001623 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001638 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001761 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001989 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0002483 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0002515 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0002650 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0002747 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0002792 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0003691 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0008180 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0011968 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0030192 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0000508 ORPHA:171439 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001561 ORPHA:171439 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0002804 ORPHA:171439 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0007010 ORPHA:171439 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0003198 ORPHA:171439 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0003458 ORPHA:171439 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0003798 ORPHA:171439 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001265 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0001270 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0002067 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0002068 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0002312 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0002355 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0003306 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0003546 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0003552 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0003557 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0003690 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0003803 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0009055 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0009058 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0000218 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0000275 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0000276 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0000316 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0000347 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0000467 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171439 Childhood-onset nemaline myopathy HP:0000774 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0012517 ORPHA:926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0000155 ORPHA:926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0000166 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0000225 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0000230 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0001935 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0005978 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0040113 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0100758 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0001045 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0001300 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0002634 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0006357 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0012531 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0100605 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0100651 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:926 Acatalasemia HP:0100753 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:929 Achalasia-microcephaly syndrome HP:0000252 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:929 Achalasia-microcephaly syndrome HP:0000286 ORPHA:929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:929 Achalasia-microcephaly syndrome HP:0000303 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:929 Achalasia-microcephaly syndrome HP:0000347 ORPHA:929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:929 Achalasia-microcephaly syndrome HP:0000400 ORPHA:929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:929 Achalasia-microcephaly syndrome HP:0000448 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:929 Achalasia-microcephaly syndrome HP:0001249 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:929 Achalasia-microcephaly syndrome HP:0001510 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:929 Achalasia-microcephaly syndrome HP:0002571 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:929 Achalasia-microcephaly syndrome HP:0007477 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0000135 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0000407 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0000519 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0001256 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0004322 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0004554 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000047 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000062 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000164 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000252 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000288 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000293 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000308 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000337 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000369 ORPHA:276422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000389 ORPHA:276422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000486 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000490 ORPHA:276422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000582 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000601 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000772 ORPHA:276422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000889 ORPHA:276422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0001249 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0001263 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0001636 ORPHA:276422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0002381 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0002381 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0030680 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0002317 ORPHA:482601 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009046 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009053 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0030319 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0003474 ORPHA:482601 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0031108 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0008959 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0008994 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009027 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0030051 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0007210 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009129 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0001315 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0008944 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009050 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0002540 ORPHA:482601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0003551 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009072 ORPHA:482601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0002200 ORPHA:482601 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0002359 ORPHA:482601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0003376 ORPHA:482601 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0003731 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0005216 ORPHA:482601 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:922 Familial nasal acilia HP:0002110 ORPHA:922 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:922 Familial nasal acilia HP:0002257 ORPHA:922 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:922 Familial nasal acilia HP:0002788 ORPHA:922 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:922 Familial nasal acilia HP:0005938 ORPHA:922 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:922 Familial nasal acilia HP:0002094 ORPHA:922 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:922 Familial nasal acilia HP:0002098 ORPHA:922 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:922 Familial nasal acilia HP:0011109 ORPHA:922 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:922 Familial nasal acilia HP:0100750 ORPHA:922 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000219 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000280 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000286 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000316 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000343 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000411 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000463 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000470 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000486 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000637 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001263 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000786 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0000939 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0004209 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001182 ORPHA:96201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001249 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001250 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0002069 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001319 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001388 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001510 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001562 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001629 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001647 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001718 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001770 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0001999 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0002162 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0002616 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0009824 ORPHA:96201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0009816 ORPHA:96201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0004691 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0004349 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0010864 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0007642 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0008209 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0010945 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0011968 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0012725 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96201 X small rings HP:0400000 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0000767 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001315 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001387 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002486 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003198 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003236 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0006785 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0000470 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0000912 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001288 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001639 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002155 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002515 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003141 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003306 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003418 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003458 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003691 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003805 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0004631 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0008948 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0008956 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0008994 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0008997 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0011807 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0030117 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0030051 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0000508 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001252 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001513 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001678 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001771 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002650 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002808 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002987 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003307 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0005115 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0008064 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0009125 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001605 ORPHA:98863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001645 ORPHA:98863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002747 ORPHA:98863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0005155 ORPHA:98863 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001249 ORPHA:98863 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000028 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000047 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000174 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000175 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000272 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000286 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000400 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000405 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000407 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000482 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000567 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000589 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0000612 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0001156 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0001631 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0001770 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0001831 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0002974 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0004322 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0008743 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0009465 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0010751 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0012368 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:921 Abruzzo-Erickson syndrome HP:0100542 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000055 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000062 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000154 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000233 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000327 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000365 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000413 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000430 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000463 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000505 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000545 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000561 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000691 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000750 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000958 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0000963 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0001000 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0001126 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0001263 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0001510 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0001537 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0001539 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0001582 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0001770 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0002213 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0002223 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0003187 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0005280 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0006709 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0007392 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0007957 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0008070 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0008551 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0008736 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0010669 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0010720 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0011224 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0100490 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:920 Ablepharon macrostomia syndrome HP:0200020 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001288 ORPHA:216866 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000157 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000510 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000543 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000580 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001257 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001260 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001347 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002015 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002359 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002454 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002533 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002540 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002659 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0003552 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0007018 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0007325 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0012675 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0030051 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0100543 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000298 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001263 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001824 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002179 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0011951 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0012735 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000618 ORPHA:216866 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001250 ORPHA:216866 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1377 Cataract-microcornea syndrome HP:0000482 ORPHA:1377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1377 Cataract-microcornea syndrome HP:0000518 ORPHA:1377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1377 Cataract-microcornea syndrome HP:0000545 ORPHA:1377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1377 Cataract-microcornea syndrome HP:0000612 ORPHA:1377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1377 Cataract-microcornea syndrome HP:0000639 ORPHA:1377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1377 Cataract-microcornea syndrome HP:0001131 ORPHA:1377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1377 Cataract-microcornea syndrome HP:0007957 ORPHA:1377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0004373 ORPHA:329466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0000473 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0002451 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0002530 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0012049 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0012179 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0031008 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0000175 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0000211 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0000377 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0000486 ORPHA:916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0001238 ORPHA:916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0001305 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0001387 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0001762 ORPHA:916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0002650 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0002664 ORPHA:916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0002828 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0003272 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0006501 ORPHA:916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:916 Aase-Smith syndrome HP:0100490 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0000174 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0000519 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0000691 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0000767 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0001249 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0002162 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0002230 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0005280 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000023 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000028 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000049 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000164 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000175 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000202 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000204 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000232 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000286 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000311 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000316 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000327 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000337 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000343 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000368 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000431 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000463 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000470 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000485 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000486 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000494 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000508 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000684 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000708 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000767 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000954 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0000974 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0001169 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0001537 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0001635 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0001763 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0001769 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0001773 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0001883 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0030680 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0002816 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0003319 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0004209 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0004279 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0004322 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0005640 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0005692 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0006101 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0007018 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0008572 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0009890 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0100490 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0100543 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:915 Aarskog-Scott syndrome HP:0200055 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000023 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000191 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000286 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000368 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000508 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000518 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0001048 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0001537 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0004322 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0008499 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0009053 ORPHA:276435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0001265 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0001284 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0001288 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002380 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003236 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003445 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003449 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003710 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0008985 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0008994 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0031921 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0001308 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0001337 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002015 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003200 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003458 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003805 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0006886 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0008954 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0008997 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0040132 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002086 ORPHA:276435 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002483 ORPHA:276435 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002540 ORPHA:276435 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002493 ORPHA:276435 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0002435 ORPHA:268810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0045005 ORPHA:268810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0001347 ORPHA:268810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0000238 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0000805 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0001276 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0002144 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0002308 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0002355 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0002375 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0002395 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0002436 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0002607 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0003438 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0005986 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0006986 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0008467 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0010550 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0025480 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0040194 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268810 Posterior meningocele HP:0100565 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000003 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000028 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000047 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0008665 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000126 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000157 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000218 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000252 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000256 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000260 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000286 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000347 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000348 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000407 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000431 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000474 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000501 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000505 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000518 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000532 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000582 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000627 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000639 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000648 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0000952 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0001088 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0001250 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0001315 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0001399 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0001508 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0001522 ORPHA:912 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0001622 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0001629 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0001928 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0002021 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0002024 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0002093 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0002126 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0002240 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0002353 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0002652 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0004322 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0005280 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0005469 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0006829 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0007957 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0008167 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0008207 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0008572 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0008872 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0009891 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0010655 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0012368 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0012736 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:912 Zellweger syndrome HP:0100543 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001771 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002155 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002515 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002987 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003141 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003306 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003418 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003458 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003691 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003805 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0004631 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0005115 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0005155 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0008948 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0008956 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0008994 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0008997 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0011807 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0030117 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0030051 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001252 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001513 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002650 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002808 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003307 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0008064 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0009125 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001249 ORPHA:98855 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0000767 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001387 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002486 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002600 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003198 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003236 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0006785 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0000912 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001288 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001644 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001645 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001678 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002718 ORPHA:911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0004429 ORPHA:911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0005390 ORPHA:911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0031381 ORPHA:911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001508 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002028 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002090 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0004798 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0005415 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0005422 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0009098 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0200117 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0000100 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0000988 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001297 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001433 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001880 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002583 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002716 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002728 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002733 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002840 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0005406 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0010280 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0011274 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0100827 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001890 ORPHA:911 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001973 ORPHA:911 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002665 ORPHA:911 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0005523 ORPHA:911 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0002936 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003380 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003390 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003447 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003482 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007002 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007078 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0009053 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0040078 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0001284 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0001760 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0001761 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0001765 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0002460 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003376 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003387 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003693 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003701 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007149 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0008956 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0008959 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0008994 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0009049 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0009130 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0011916 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0030237 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0002540 ORPHA:98856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003724 ORPHA:98856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007126 ORPHA:98856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007249 ORPHA:98856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0008988 ORPHA:98856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003431 ORPHA:98856 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007233 ORPHA:98856 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0002044 ORPHA:913 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0100634 ORPHA:913 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0002014 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0002018 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0002574 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0002588 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0004398 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0100633 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0001824 ORPHA:913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0000843 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0000845 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0000854 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0000952 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0001012 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0003118 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0002239 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0002573 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0002893 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0003072 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0003165 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0005214 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0006767 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0008208 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0008256 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0008291 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0010783 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0011760 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0011761 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0012030 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0012032 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0012334 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0030404 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0030688 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:913 Zollinger-Ellison syndrome HP:0006744 ORPHA:913 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000270 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000473 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0001262 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0001263 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0001290 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0002059 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0002213 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0002650 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0008897 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0010055 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0100840 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000023 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000028 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000280 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000290 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000308 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000341 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000369 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000400 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000430 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000494 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000520 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000708 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000729 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0000973 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0001254 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0001276 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0001629 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0002000 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0002007 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0002119 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0002194 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0002362 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0002457 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0002705 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0004415 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0009931 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0010803 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0011675 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0025104 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276432 Ogden syndrome HP:0030149 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000028 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000135 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000164 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000252 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000365 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000407 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000486 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000491 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000498 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000518 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000524 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000613 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000621 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000648 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000656 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000958 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000962 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000963 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000992 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0000995 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001009 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001029 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001034 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001053 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001059 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001072 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001250 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001251 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001257 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001315 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001480 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001508 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001596 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0001945 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0002071 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0002120 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0002353 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0002376 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0002664 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0002750 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0002829 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0002861 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0003355 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0004322 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0004334 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0004493 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0006887 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0007759 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0008734 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0009755 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0009830 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0010649 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0010783 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0012378 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0012733 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0012740 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0100012 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0100543 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:910 Xeroderma pigmentosum HP:0100585 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0000767 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001315 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001387 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002486 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003198 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003236 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0006785 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0000912 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001288 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001771 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002155 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002515 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002987 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003141 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003306 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003418 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003458 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003691 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003805 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0004631 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0008948 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0008956 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0008994 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0008997 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0011807 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0030117 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0030051 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0000508 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001252 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001513 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001644 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001678 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002650 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002808 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003307 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0005115 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0008064 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0009125 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001605 ORPHA:98853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001639 ORPHA:98853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001645 ORPHA:98853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002747 ORPHA:98853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0005155 ORPHA:98853 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001249 ORPHA:98853 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000218 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000278 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001270 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001290 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0002093 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0002515 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003323 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003391 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003551 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003700 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0009046 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0010628 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000160 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000193 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000276 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000411 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000597 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000602 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000750 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001256 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001260 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001284 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001349 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001618 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001654 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001712 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001761 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001762 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001999 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003273 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003307 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003403 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003687 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003691 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003803 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0100807 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2690 Neutropenia-monocytopenia-deafness syndrome HP:0000407 ORPHA:2690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2690 Neutropenia-monocytopenia-deafness syndrome HP:0001874 ORPHA:2690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2690 Neutropenia-monocytopenia-deafness syndrome HP:0004311 ORPHA:2690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2690 Neutropenia-monocytopenia-deafness syndrome HP:0010978 ORPHA:2690 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90050 Retinopathy of prematurity HP:0001518 ORPHA:90050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90050 Retinopathy of prematurity HP:0001622 ORPHA:90050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90050 Retinopathy of prematurity HP:0008046 ORPHA:90050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90050 Retinopathy of prematurity HP:0000618 ORPHA:90050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90050 Retinopathy of prematurity HP:0001103 ORPHA:90050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90050 Retinopathy of prematurity HP:0001136 ORPHA:90050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90050 Retinopathy of prematurity HP:0007902 ORPHA:90050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90050 Retinopathy of prematurity HP:0007917 ORPHA:90050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000256 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000407 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000480 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000494 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001249 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001263 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001328 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001520 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001629 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001634 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001999 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0004712 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0011407 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0012385 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0012471 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0030037 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0410252 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0410255 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000003 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000023 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000105 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000158 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000286 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000311 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000316 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000400 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000411 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000483 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000486 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000490 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000518 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000637 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000750 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001172 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001176 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001707 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001762 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001833 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001840 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001847 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0002619 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0002667 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0002982 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0003298 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0011800 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0031069 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0100694 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0001269 ORPHA:306741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0001332 ORPHA:306741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0002518 ORPHA:306741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0012751 ORPHA:306741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0001787 ORPHA:306741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0002451 ORPHA:306741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0100556 ORPHA:306741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0000245 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0000250 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0001250 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0003487 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0007256 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0010540 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0001270 ORPHA:306741 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0012106 ORPHA:306741 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0000407 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0000505 ORPHA:1368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0000519 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0000639 ORPHA:1368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0000762 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0001251 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0001256 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0001276 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0001284 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0001337 ORPHA:1368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0004322 ORPHA:1368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0008615 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0009830 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0010824 ORPHA:137596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0012155 ORPHA:137596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0007924 ORPHA:137596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0000483 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0000495 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0000559 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0000622 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0000632 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0000819 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0012040 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0012122 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0012804 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0012533 ORPHA:137596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0100583 ORPHA:137596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:137596 Neurotrophic keratopathy HP:0100963 ORPHA:137596 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0000505 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0000518 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0000982 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0000987 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0001387 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0001482 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0007418 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0008065 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0008404 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0100679 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0007663 ORPHA:137599 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0007765 ORPHA:137599 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0012040 ORPHA:137599 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0012108 ORPHA:137599 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0007812 ORPHA:137599 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0009926 ORPHA:137599 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0012039 ORPHA:137599 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0012155 ORPHA:137599 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0100583 ORPHA:137599 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0000491 ORPHA:137599 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:137599 Herpes simplex virus stromal keratitis HP:0000618 ORPHA:137599 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0001257 ORPHA:352641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002073 ORPHA:352641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0003487 ORPHA:352641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0000570 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0000639 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0001348 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002015 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002061 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002066 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002464 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0003477 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0007141 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0007256 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0010831 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0000020 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0000407 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0001761 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002059 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002166 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002346 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002650 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0003693 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0001256 ORPHA:352641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002078 ORPHA:352641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0004905 ORPHA:352641 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0100513 ORPHA:352641 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1361 Carnosinase deficiency HP:0001249 ORPHA:1361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1361 Carnosinase deficiency HP:0002123 ORPHA:1361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1361 Carnosinase deficiency HP:0002353 ORPHA:1361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1361 Carnosinase deficiency HP:0002376 ORPHA:1361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1361 Carnosinase deficiency HP:0003167 ORPHA:1361 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0000822 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0001050 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0001899 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0011106 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0020059 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0025548 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0025619 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0100724 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0000739 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0000848 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0001513 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0002149 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0002152 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0002155 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0002315 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0002321 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0003124 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0003394 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0004950 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0005117 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0012378 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0012605 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0025502 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0001082 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0001297 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0001658 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0001677 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0001681 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0002094 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0004398 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0100785 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0410019 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0000121 ORPHA:90041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0000819 ORPHA:90041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0001997 ORPHA:90041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90041 Gaisböck syndrome HP:0001744 ORPHA:90041 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0000421 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0000989 ORPHA:90042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0001892 ORPHA:90042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0001901 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0001907 ORPHA:90042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0002027 ORPHA:90042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0002094 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0002315 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0002321 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0002829 ORPHA:90042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0002875 ORPHA:90042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0004936 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0011902 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0012378 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90042 Primary familial polycythemia HP:0012735 ORPHA:90042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2695 Bifid nose HP:0000316 ORPHA:2695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2695 Bifid nose HP:0011803 ORPHA:2695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0000338 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0000496 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0000508 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0000975 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001251 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001260 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001263 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001276 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001285 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001288 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001290 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001300 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001332 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001337 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001611 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001760 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002075 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002310 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002360 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002362 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002421 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002451 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002597 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0005484 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0008936 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0010307 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0010553 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0011443 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0012378 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0030215 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0100543 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90044 Familial pseudohyperkalemia HP:0002153 ORPHA:90044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90044 Familial pseudohyperkalemia HP:0000822 ORPHA:90044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90044 Familial pseudohyperkalemia HP:0004446 ORPHA:90044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90044 Familial pseudohyperkalemia HP:0001923 ORPHA:90044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90044 Familial pseudohyperkalemia HP:0005518 ORPHA:90044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90044 Familial pseudohyperkalemia HP:0004802 ORPHA:90044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0000010 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0000206 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0000708 ORPHA:90045 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0000980 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0001250 ORPHA:90045 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0001263 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0001347 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0001508 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0001873 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0001876 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0001880 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0001889 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0002014 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0002017 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0002020 ORPHA:90045 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0002039 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0002205 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0002514 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0002715 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0002721 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0003202 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0004313 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0009830 ORPHA:90045 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0100022 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90045 Hereditary folate malabsorption HP:0100825 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0003687 ORPHA:169189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0000508 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0000883 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001290 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001436 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001520 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001558 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001561 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002194 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002355 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0003458 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0003803 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0004488 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0005268 ORPHA:169189 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0008180 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0008994 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0008997 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0010546 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0000020 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0000028 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0000544 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001048 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002021 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002522 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002747 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0003477 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0003738 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0008981 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0012768 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002047 ORPHA:169189 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0001820 ORPHA:2698 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0008527 ORPHA:2698 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0032541 ORPHA:2698 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0000972 ORPHA:2698 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0000982 ORPHA:2698 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0000410 ORPHA:2698 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0045059 ORPHA:2698 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000486 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000501 ORPHA:1369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000512 ORPHA:1369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000518 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000545 ORPHA:1369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000639 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0001131 ORPHA:1369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0001639 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0003128 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0003198 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome HP:0001252 ORPHA:2680 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome HP:0001315 ORPHA:2680 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome HP:0001376 ORPHA:2680 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome HP:0002098 ORPHA:2680 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome HP:0003457 ORPHA:2680 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0000980 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001873 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001878 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001919 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0012378 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0032169 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0000707 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001945 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001974 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002014 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002027 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0011037 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0011115 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0011116 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0011947 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0030783 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0032155 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0100282 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0000822 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0000969 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001287 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001733 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002013 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002018 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002090 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002094 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002102 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002153 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002901 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002902 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0004372 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0005208 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0012593 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0012819 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0025085 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0031691 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0031864 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0100519 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0100520 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0100735 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0000819 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001250 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001259 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001269 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002576 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0003095 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0005244 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0007430 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0011919 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0030049 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0031368 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0100704 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0000182 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0000273 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0000708 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0000712 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0000719 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0000722 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0000737 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0001260 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0001290 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0002072 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0002315 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0002317 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0100248 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0003095 ORPHA:306731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0005366 ORPHA:306731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0010783 ORPHA:306731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306731 Sydenham chorea HP:0100584 ORPHA:306731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0000980 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0001324 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0001635 ORPHA:90037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0001649 ORPHA:90037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0001744 ORPHA:90037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0001890 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0002315 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0002875 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0003573 ORPHA:90037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0012086 ORPHA:90037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0012378 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001873 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001919 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001937 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002013 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002014 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002027 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0003259 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0005423 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0008282 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0100519 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0000707 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0000737 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0000822 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001250 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001262 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001923 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001944 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001974 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001981 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002900 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002902 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0003641 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0025085 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0025435 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0031368 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0100282 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001259 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001658 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001733 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002035 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002576 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002586 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0012851 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000047 ORPHA:1355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000160 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000163 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000311 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000457 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000463 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0030680 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0003196 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0004322 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0005599 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0007440 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0007477 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306734 Primary dystonia, DYT21 type HP:0001332 ORPHA:306734 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:306734 Primary dystonia, DYT21 type HP:0000473 ORPHA:306734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306734 Primary dystonia, DYT21 type HP:0000643 ORPHA:306734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306734 Primary dystonia, DYT21 type HP:0002268 ORPHA:306734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306734 Primary dystonia, DYT21 type HP:0004373 ORPHA:306734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306734 Primary dystonia, DYT21 type HP:0007325 ORPHA:306734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:306734 Primary dystonia, DYT21 type HP:0002451 ORPHA:306734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306734 Primary dystonia, DYT21 type HP:0002530 ORPHA:306734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:306734 Primary dystonia, DYT21 type HP:0012049 ORPHA:306734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0005560 ORPHA:90039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0011902 ORPHA:90039 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0011905 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0011906 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0011907 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0025066 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0025547 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0045048 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0030058 ORPHA:90039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0045047 ORPHA:90039 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0000980 ORPHA:90039 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0001744 ORPHA:90039 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0001903 ORPHA:90039 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90039 Hemoglobin D disease HP:0002027 ORPHA:90039 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0000772 ORPHA:1354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0000774 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0000944 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0001522 ORPHA:1354 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0001629 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0001631 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0001633 ORPHA:1354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0001702 ORPHA:1354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0002808 ORPHA:1354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0003312 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0003498 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0004414 ORPHA:1354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0005026 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1354 Heart defects-limb shortening syndrome HP:0005616 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000256 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000316 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000400 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000414 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000490 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000653 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000718 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001263 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001319 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001488 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001520 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001561 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001792 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002003 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002223 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0007018 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0008689 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0012520 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0030890 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000023 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000278 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000337 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000384 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000407 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000494 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000561 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000581 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000708 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000902 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000960 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001182 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001250 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001257 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001344 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001596 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001800 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002099 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002209 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002334 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002465 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002608 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0004209 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0006956 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0006989 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0007074 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0007082 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0007109 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0010880 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0011276 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0011309 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0012450 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0032152 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0032671 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0045075 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0100716 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0410018 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000119 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000252 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000347 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000364 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000378 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000431 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000486 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000568 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000581 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000582 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0001107 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0001336 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0001511 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0001545 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0001671 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0002023 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0003022 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0003974 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0004209 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0008551 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0009601 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0010035 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000407 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000556 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000572 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000648 ORPHA:49827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000819 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000980 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001254 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001297 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001629 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001631 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001635 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001695 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001873 ORPHA:49827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001889 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0002014 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0002039 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0002315 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0003401 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0004322 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0006671 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0000028 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0000164 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0000174 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0000889 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0001156 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0001161 ORPHA:1350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0005916 ORPHA:1350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0001249 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0001387 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0001555 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0002162 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0030680 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0002983 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0040071 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0003019 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0003043 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0003063 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0006501 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0009601 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0009811 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0009908 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0010044 ORPHA:1350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0010047 ORPHA:1350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0011675 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1350 Heart-hand syndrome type 2 HP:0100556 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0000952 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0000980 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0001635 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0001649 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0001744 ORPHA:90033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0001890 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0001945 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0002315 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0002725 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0002829 ORPHA:90033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0002875 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0002960 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0005523 ORPHA:90033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0005550 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0012086 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0012378 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0000246 ORPHA:2686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0002315 ORPHA:2686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0002653 ORPHA:2686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0040289 ORPHA:2686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0000155 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0000230 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0001581 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0001954 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0002716 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0011110 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0011947 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0012378 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0025289 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0025439 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0030757 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0032323 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0000388 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0000704 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0001873 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0001888 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0002027 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0006308 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0006357 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0009789 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0031690 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0031891 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0100658 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0002586 ORPHA:2686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0004387 ORPHA:2686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0031864 ORPHA:2686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0032169 ORPHA:2686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2686 Cyclic neutropenia HP:0100806 ORPHA:2686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0001890 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0001945 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0002014 ORPHA:90035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0002017 ORPHA:90035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0002205 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0002315 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0002829 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0003418 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0003641 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0004844 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0012086 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0000158 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0000239 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0000271 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0000280 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0000821 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0000952 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0001252 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0001263 ORPHA:95720 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0001510 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0002019 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0003270 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0004322 ORPHA:95720 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0005990 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0010864 ORPHA:95720 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95720 Thyroid hypoplasia HP:0012378 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001580 ORPHA:1359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000138 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000845 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000866 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000870 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001003 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001074 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0003118 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0005585 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0007565 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0010785 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0010788 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0011672 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0011760 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0030269 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0030428 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0100619 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0100814 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000008 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000053 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000199 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000708 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000771 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000798 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000822 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000978 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001007 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001065 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001297 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001324 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001507 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001635 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001907 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0004324 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0006753 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0010619 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0010732 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0012041 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0012206 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0012743 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0012887 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0025274 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0025318 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0025383 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0025451 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0030038 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0030072 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0030075 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0100008 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0100013 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0100618 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0100638 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0100737 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0100751 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0500011 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000098 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0000826 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0001402 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0002890 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0002894 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0002895 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0004944 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0006731 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1359 Carney complex HP:0100743 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000126 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000162 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000175 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000201 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000218 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000233 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000252 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000286 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000343 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000347 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000463 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000494 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000508 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000634 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000807 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001156 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001249 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001252 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001510 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001600 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001602 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001762 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0002119 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0002514 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0002650 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0003196 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0003198 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0003202 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0004322 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0006824 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0007360 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0009465 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0009751 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0010295 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0010628 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0100735 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0000980 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0000988 ORPHA:90036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0001324 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0001649 ORPHA:90036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0001890 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0001945 ORPHA:90036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0002665 ORPHA:90036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0002725 ORPHA:90036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0002829 ORPHA:90036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0002875 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0002960 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0003573 ORPHA:90036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0012086 ORPHA:90036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0012378 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0001875 ORPHA:2688 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0005202 ORPHA:2688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0001888 ORPHA:2688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0002718 ORPHA:2688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0002719 ORPHA:2688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0005561 ORPHA:2688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0001945 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0003496 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0011107 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0012139 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0012312 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0031020 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0002841 ORPHA:2688 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0012311 ORPHA:2688 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0003453 ORPHA:2688 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2688 Adult idiopathic neutropenia HP:0011991 ORPHA:2688 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002719 ORPHA:169160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0001888 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0001945 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0003460 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0004315 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0008866 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0031381 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0045080 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0000388 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0001019 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0001433 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0001880 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002014 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002039 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002090 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002722 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0004385 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0005353 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0005401 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0006532 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0009098 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0010702 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0012115 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0000343 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0000470 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0000829 ORPHA:50810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0000878 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001181 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001250 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001252 ORPHA:50810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001263 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001276 ORPHA:50810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001284 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001321 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001339 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001508 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001561 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0002098 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0002353 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0002983 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0003196 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0004554 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0005484 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0007598 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0010945 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0100530 ORPHA:50810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0100540 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0000280 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0000407 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0000938 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001249 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001263 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001508 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001511 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001518 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001533 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0004322 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0004993 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0005328 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0009064 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0100959 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000218 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000252 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000286 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000298 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000307 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000348 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000431 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000463 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000582 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000953 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001252 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001263 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001265 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001508 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001511 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001596 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0002007 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0002240 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0002299 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0004322 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0007598 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0010864 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000154 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000218 ORPHA:50814 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000233 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000239 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000316 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000319 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000327 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000336 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000343 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000426 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000445 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000670 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000684 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000685 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000691 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000750 ORPHA:50814 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000774 ORPHA:50814 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0000953 ORPHA:50814 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0001000 ORPHA:50814 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0001763 ORPHA:50814 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0002007 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0002208 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0002299 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0002650 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0002652 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0004322 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0004331 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0005306 ORPHA:50814 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0005692 ORPHA:50814 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0006480 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0008031 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0008070 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0008444 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50814 Craniolenticulosutural dysplasia HP:0008808 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0000175 ORPHA:50815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0000377 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0000384 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0000396 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0000405 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0000407 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0000410 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0000413 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0000483 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0000486 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0001328 ORPHA:50815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0004322 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0004452 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0004467 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0007427 ORPHA:50815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0008774 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0009795 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0009796 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0009839 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0009882 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50815 Branchiogenic deafness syndrome HP:0011272 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0000252 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0000486 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0000505 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0000639 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0001252 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0001270 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0002650 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0002750 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0003198 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0003508 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0009921 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2678 Neurofibromatosis type 6 HP:0001480 ORPHA:2678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2678 Neurofibromatosis type 6 HP:0007565 ORPHA:2678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90026 Primary erythromelalgia HP:0009830 ORPHA:90026 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90026 Primary erythromelalgia HP:0010783 ORPHA:90026 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90026 Primary erythromelalgia HP:0000989 ORPHA:90026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90026 Primary erythromelalgia HP:0001872 ORPHA:90026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90026 Primary erythromelalgia HP:0001909 ORPHA:90026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90026 Primary erythromelalgia HP:0002045 ORPHA:90026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90026 Primary erythromelalgia HP:0002205 ORPHA:90026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90026 Primary erythromelalgia HP:0002633 ORPHA:90026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0030057 ORPHA:95715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0000260 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0000958 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0001265 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0001537 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0002019 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0002926 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0011968 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0031098 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0031219 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0031507 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0100786 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0000280 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0001319 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0002908 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0006579 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0025379 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0025483 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0500011 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0000853 ORPHA:95715 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0000518 ORPHA:1345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0000822 ORPHA:1345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0000926 ORPHA:1345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0001387 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0001635 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0001639 ORPHA:1345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0001654 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0002204 ORPHA:1345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0002652 ORPHA:1345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0002758 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0004420 ORPHA:1345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0005108 ORPHA:1345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0010885 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0011675 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0012758 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000158 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000282 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001249 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001252 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001254 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001265 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001662 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0002045 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0003265 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0005280 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0025482 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0025483 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0031219 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0031220 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000407 ORPHA:95716 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0002925 ORPHA:95716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0031507 ORPHA:95716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000270 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000851 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000853 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001537 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0002019 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0004491 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0005930 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0006579 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0008263 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0008828 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95716 Familial thyroid dyshormonogenesis HP:0008872 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0000158 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0000239 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0000271 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0000280 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0000821 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0001252 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0001263 ORPHA:95713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0001324 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0001510 ORPHA:95713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0002019 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0003270 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0004322 ORPHA:95713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0008191 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0010864 ORPHA:95713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0011968 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0012378 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95713 Athyreosis HP:0100786 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0001962 ORPHA:1344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0005155 ORPHA:1344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0025478 ORPHA:1344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0031546 ORPHA:1344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0031595 ORPHA:1344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0001627 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0002094 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0003560 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0011675 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0011704 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0011712 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0012378 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0012664 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0030682 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0030973 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0410174 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0001260 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0001279 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0001371 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0001635 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0001638 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0001662 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0001907 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0002018 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0002140 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0002301 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0002315 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0002321 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0002381 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0003202 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0004756 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1344 Atrial standstill HP:0011707 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0001508 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0002207 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0002883 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0012418 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0012735 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0025179 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0032341 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0000961 ORPHA:91359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0001945 ORPHA:91359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0002098 ORPHA:91359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0002789 ORPHA:91359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0030864 ORPHA:91359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91359 Chronic pneumonitis of infancy HP:0100721 ORPHA:91359 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0000158 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0000239 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0000271 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0000280 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0000952 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0001252 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0001263 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0001510 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0001537 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0002019 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0003270 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0008191 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0012378 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95719 Thyroid hemiagenesis HP:0100786 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000028 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000126 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000176 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000218 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000238 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000256 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000276 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000280 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000286 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000293 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000316 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000343 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000348 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000368 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000391 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000400 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000463 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000465 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000470 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000478 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000486 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000494 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000499 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000504 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000508 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000545 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000637 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000639 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000648 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000767 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000958 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000962 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000974 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000982 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001003 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001004 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001048 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001249 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001252 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001260 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001263 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001531 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001582 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001622 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001631 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001639 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001642 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001654 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002007 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002120 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002162 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002167 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002213 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002217 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002299 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002353 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0030680 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002650 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002857 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002967 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0040071 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0003196 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0004322 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0004422 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0005280 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0006191 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0007392 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0007440 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0007565 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0008064 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0008070 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0008391 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0008872 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0009891 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0010669 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0011024 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0012719 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0100840 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1340 Cardiofaciocutaneous syndrome HP:0200102 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0002925 ORPHA:95717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0031507 ORPHA:95717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0000270 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0001537 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0002019 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0004491 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0005930 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0006579 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0008828 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0008872 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0012758 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0000158 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0000282 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0001252 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0001254 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0001265 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0001662 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0002045 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0003265 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0005280 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0030057 ORPHA:95717 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0031219 ORPHA:95717 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:95717 Idiopathic congenital hypothyroidism HP:0031220 ORPHA:95717 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0040075 ORPHA:91350 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000505 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000870 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0007924 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0012505 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0030521 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0030591 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000044 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000238 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000830 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000871 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0002315 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0002516 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0007807 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0008240 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0011735 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0012246 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000651 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000873 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0002170 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0004372 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0008245 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0030907 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0430022 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000252 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000340 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001511 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0008064 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0012471 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0012639 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0100679 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000062 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000135 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000153 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000211 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000232 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000288 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000316 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000400 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000457 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000520 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000951 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001176 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001302 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001305 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001321 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001331 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001339 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001371 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001460 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001558 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001561 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001769 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002126 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002179 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002269 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002334 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002536 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0003202 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0003241 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0003394 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0003560 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0007227 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000175 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000176 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000193 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000269 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000278 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000347 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000492 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000499 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000518 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000614 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000938 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0000939 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001059 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0001595 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002089 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002119 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002414 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002514 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002650 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002748 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002749 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002804 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0002983 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2671 Neu-Laxova syndrome HP:0030680 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001251 ORPHA:2672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001257 ORPHA:2672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001276 ORPHA:2672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0002063 ORPHA:2672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0003552 ORPHA:2672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001265 ORPHA:2672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001284 ORPHA:2672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0005692 ORPHA:2672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0100022 ORPHA:2672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0000708 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001252 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0002300 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0002381 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0002381 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0010529 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000028 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000122 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000248 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000286 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000288 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000303 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000316 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000369 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000413 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000426 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000494 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000508 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000767 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001131 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0005916 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001199 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001249 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001252 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001357 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001511 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0030680 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0004322 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0008572 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0009811 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0009832 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0009896 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0009912 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0010650 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0011220 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2673 Neurofaciodigitorenal syndrome HP:0011830 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000830 ORPHA:91351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0002017 ORPHA:91351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0010885 ORPHA:91351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0011750 ORPHA:91351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000135 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000141 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000651 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000870 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000871 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000876 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0002331 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0003324 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0007663 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0010514 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0012505 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0030907 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0100829 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000798 ORPHA:91351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0001250 ORPHA:91351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0001287 ORPHA:91351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0011442 ORPHA:91351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0011730 ORPHA:91351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0001117 ORPHA:91351 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0001959 ORPHA:91351 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000802 ORPHA:91354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000876 ORPHA:91354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002315 ORPHA:91354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000824 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000826 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000870 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0001250 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002921 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002960 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0007663 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0008245 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0011446 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0011748 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0030532 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0040075 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000651 ORPHA:91354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000863 ORPHA:91354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002615 ORPHA:91354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002902 ORPHA:91354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0100661 ORPHA:91354 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002893 ORPHA:91354 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0000280 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0001875 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0002721 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0004322 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0005599 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0006538 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0007443 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0000158 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0000239 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0000271 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0000280 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0000820 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0000821 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0000952 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0001252 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0001263 ORPHA:95712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0001324 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0001510 ORPHA:95712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0001537 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0002019 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0003270 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0004322 ORPHA:95712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0010864 ORPHA:95712 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0100028 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95712 Thyroid ectopia HP:0100786 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0000407 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001251 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001288 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001324 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001350 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001639 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0011342 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0000590 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0000597 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001268 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001298 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001635 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001644 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0002094 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0002151 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0003200 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0003457 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0003542 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0003546 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0012514 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0030680 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0000822 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001012 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001347 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0002373 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0003326 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0009126 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0009830 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0012378 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0100749 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000455 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000689 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001363 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001385 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001510 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001627 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001629 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002282 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002342 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002465 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002540 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002650 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002711 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002714 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0003763 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0010864 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0010880 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0031936 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000175 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000193 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000280 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000405 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000407 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000411 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000430 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000476 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000508 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000540 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000637 ORPHA:352665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001252 ORPHA:352665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000028 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000076 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000126 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000158 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000194 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000252 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000276 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000431 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000545 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000586 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000587 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000589 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000609 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000821 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000938 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000975 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001250 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001274 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001284 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001315 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001324 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001388 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001548 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001631 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001647 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001762 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001763 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001954 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002019 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002046 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002079 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002263 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002558 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002572 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002578 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002579 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002705 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002877 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0003186 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0003388 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0003422 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0004389 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0004442 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0004443 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0004467 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0004942 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0005487 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0006481 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0007328 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0007655 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0008872 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0009794 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0009804 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0010297 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0010807 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0011147 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0011330 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0011470 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0011807 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0100259 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000098 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000276 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000307 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000316 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000347 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000365 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000407 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000430 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000431 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000448 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000486 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000494 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000664 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000668 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000687 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000691 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000698 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0001291 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0008499 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0008551 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0010609 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0011069 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0011372 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001249 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001263 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002151 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002919 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0003115 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0003236 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0003458 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000750 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001250 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001251 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001657 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001943 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001987 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002071 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002283 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002311 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002376 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002579 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002910 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0003128 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0004305 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0008223 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0008872 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0008942 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0011343 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0011675 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0031936 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000605 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000639 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000646 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000648 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001276 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001297 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001332 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001347 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002015 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002069 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002123 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002169 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002173 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002384 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0003487 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0010818 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0011342 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0011344 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0012469 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0031165 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0045045 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0100704 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000252 ORPHA:480864 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000407 ORPHA:480864 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0030016 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0030018 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000407 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000651 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000872 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0001324 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0001513 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0001662 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0001962 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0002019 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0002321 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0002829 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0002902 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0003493 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0004396 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0007041 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0025143 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0030907 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000709 ORPHA:91355 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000863 ORPHA:91355 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0001259 ORPHA:91355 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000871 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000876 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0008163 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0008240 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0011735 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0011748 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0012432 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000141 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000622 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000802 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000958 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0000980 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0001278 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0001895 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0001943 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0002018 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0002215 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0002225 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0002315 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0003158 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0003187 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0007987 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0008202 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0008213 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0008214 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0008245 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0011734 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91355 Sheehan syndrome HP:0012504 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0000047 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0000104 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0000110 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0000175 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0000202 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0000238 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0000766 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0000776 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0001171 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0001539 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0001629 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0001631 ORPHA:1335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0001636 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0001697 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0001748 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0001883 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0002084 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0002089 ORPHA:1335 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0002323 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0030680 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0002650 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0002992 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0006501 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0011467 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1335 Pentalogy of Cantrell HP:0100335 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000026 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000044 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000134 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000140 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000135 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000508 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000529 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000618 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000651 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000771 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000789 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000802 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000822 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000823 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000836 ORPHA:91347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000837 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000845 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000868 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000853 ORPHA:91347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000858 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000870 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000938 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000939 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000975 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000980 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0001117 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0001250 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0006824 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0001337 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0002315 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0001635 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0001698 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0001824 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0001962 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0002013 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0002017 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0002321 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0002615 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0002900 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0002920 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0002925 ORPHA:91347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0000044 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0003388 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0004308 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0005115 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0006897 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0007011 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0007942 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0008153 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0008247 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0008240 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0011362 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0011734 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0011735 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0011748 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0011782 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0012041 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0012246 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0012377 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0012378 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0012503 ORPHA:91347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0012505 ORPHA:91347 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0030018 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0030517 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0030521 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0030588 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91347 TSH-secreting pituitary adenoma HP:0100639 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000010 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000142 ORPHA:1334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000153 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000159 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000478 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000504 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000682 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000790 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000951 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000962 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000988 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000989 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0001231 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0001250 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0001597 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0001821 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0002105 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0002205 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0002715 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0002719 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0004306 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0004370 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0008388 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0008872 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0010783 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0012115 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0012735 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0030016 ORPHA:1334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0100825 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0200034 ORPHA:1334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1334 Chronic mucocutaneous candidiasis HP:0200042 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0000083 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0000093 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0000407 ORPHA:2668 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0000843 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0001903 ORPHA:2668 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0003072 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0012062 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0100820 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000026 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000044 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000053 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000134 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000135 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000140 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000508 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000529 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000618 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000651 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000802 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000824 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000830 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000837 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000858 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000871 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000846 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000863 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000868 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000873 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000980 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0001117 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0001250 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0006824 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0002013 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0002017 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0002050 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0002315 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0002321 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0002615 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0002920 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0000044 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0003388 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0006897 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0007011 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0007942 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0008202 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0008240 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0008245 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0008993 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0010972 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0011362 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0011734 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0011735 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0011748 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0011804 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0012041 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0012246 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0012377 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0012378 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0012503 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0030088 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0030018 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0030517 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0030521 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0040075 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91349 Non-functioning pituitary adenoma HP:0100639 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0000079 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0000126 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0000193 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0000405 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0001172 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0009611 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0010055 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0010097 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0006725 ORPHA:1333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0001738 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0001824 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0002027 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0002039 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0003418 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0004396 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0012432 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0000952 ORPHA:1333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0002716 ORPHA:1333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0004389 ORPHA:1333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0005249 ORPHA:1333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0012334 ORPHA:1333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0000819 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0001433 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0002017 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0002254 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0002861 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0002896 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0002910 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0003002 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0003003 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0025318 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1333 Familial pancreatic carcinoma HP:0100592 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0002865 ORPHA:1332 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0003528 ORPHA:1332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0005994 ORPHA:1332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0000975 ORPHA:1332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0002014 ORPHA:1332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0002015 ORPHA:1332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0002716 ORPHA:1332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0001618 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0001824 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0002666 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0008200 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0010622 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0030146 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1332 Medullary thyroid carcinoma HP:0100526 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0011759 ORPHA:91348 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000140 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000505 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000789 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000802 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000830 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0001123 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0012378 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0030018 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0030088 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0040086 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000138 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000141 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000238 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000798 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000823 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000824 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000837 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000863 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000871 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000938 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0000939 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0001541 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0002050 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0002315 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0002625 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0002750 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0008236 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0008245 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0008675 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0009888 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0011748 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0012246 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91348 Functioning gonadotropic adenoma HP:0100829 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0011577 ORPHA:1330 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001653 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001962 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0002205 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0002875 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0009020 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0030148 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001279 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001636 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001643 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001647 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001650 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001680 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001681 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001692 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001702 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0001719 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0002326 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0004383 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0004749 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0006689 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0010772 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0011565 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0030853 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1330 Partial atrioventricular septal defect HP:0031298 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0100627 ORPHA:95706 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0000028 ORPHA:95706 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0012435 ORPHA:95706 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0000048 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0000054 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0000175 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0000716 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0000739 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0000776 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0000818 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0001539 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0002023 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0002032 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0008226 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0001518 ORPHA:95706 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95706 Non-syndromic posterior hypospadias HP:0008722 ORPHA:95706 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95707 Idiopathic isolated micropenis HP:0000054 ORPHA:95707 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:95707 Idiopathic isolated micropenis HP:0000047 ORPHA:95707 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:95707 Idiopathic isolated micropenis HP:0000062 ORPHA:95707 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0000256 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0000286 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0000316 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0000327 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0000337 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0000407 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0000426 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0000508 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0000708 ORPHA:2662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0001609 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0002263 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0030680 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0004209 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0004322 ORPHA:2662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0005280 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0009836 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0009882 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0010059 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0010109 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0010185 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0010624 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0010804 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0011304 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2662 Keipert syndrome HP:0100543 ORPHA:2662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2663 Nathalie syndrome HP:0000407 ORPHA:2663 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2663 Nathalie syndrome HP:0000518 ORPHA:2663 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2663 Nathalie syndrome HP:0004322 ORPHA:2663 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2663 Nathalie syndrome HP:0011675 ORPHA:2663 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0000028 ORPHA:1338 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0001233 ORPHA:1338 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0001643 ORPHA:1338 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0001682 ORPHA:1338 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0011802 ORPHA:1338 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0100835 ORPHA:1338 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1336 Hyperkeratosis-hyperpigmentation syndrome HP:0000962 ORPHA:1336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1336 Hyperkeratosis-hyperpigmentation syndrome HP:0000992 ORPHA:1336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1336 Hyperkeratosis-hyperpigmentation syndrome HP:0007400 ORPHA:1336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1336 Hyperkeratosis-hyperpigmentation syndrome HP:0007565 ORPHA:1336 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1336 Hyperkeratosis-hyperpigmentation syndrome HP:0200034 ORPHA:1336 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001511 ORPHA:86822 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001561 ORPHA:86822 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0000252 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0000282 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001302 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001321 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001338 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001339 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001762 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0002089 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0002134 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0002365 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0002804 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0003330 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0003405 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0006827 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0006872 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0007190 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0008178 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0009882 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0010049 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0010655 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0012697 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000750 ORPHA:500055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001263 ORPHA:500055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001999 ORPHA:500055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0410263 ORPHA:500055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000135 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000565 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000718 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000729 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001249 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001250 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001252 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001288 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001319 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001508 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0002020 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0002079 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0002099 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0004322 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0007018 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0007082 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0008872 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0012450 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0012762 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000028 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000054 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000238 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000248 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000252 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000365 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000486 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000545 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0000639 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001344 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001357 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001371 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001385 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001558 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0001773 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0002028 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0002033 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0002119 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0002360 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0002650 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0002808 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0004482 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0006970 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0008770 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0010535 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0012166 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0025160 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0025502 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0100710 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500055 16p13.2 microdeletion syndrome HP:0200055 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0011356 ORPHA:293812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0010783 ORPHA:293812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0025474 ORPHA:293812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0020172 ORPHA:293812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0000953 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0000155 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0011354 ORPHA:293812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0010280 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0007473 ORPHA:293812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0003341 ORPHA:293812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0410323 ORPHA:293812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0008066 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0200041 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0032565 ORPHA:293812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0032156 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0001945 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0025143 ORPHA:293812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293812 Fixed drug eruption HP:0012378 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86820 Familial avascular necrosis of femoral head HP:0003366 ORPHA:86820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86820 Familial avascular necrosis of femoral head HP:0031520 ORPHA:86820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86820 Familial avascular necrosis of femoral head HP:0007311 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86820 Familial avascular necrosis of femoral head HP:0008800 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86820 Familial avascular necrosis of femoral head HP:0008812 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86820 Familial avascular necrosis of femoral head HP:0008843 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86820 Familial avascular necrosis of femoral head HP:0030838 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86820 Familial avascular necrosis of femoral head HP:0031058 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86820 Familial avascular necrosis of femoral head HP:0100559 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000365 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000473 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000716 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000739 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001251 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001300 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001348 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001761 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001762 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002063 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002066 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002067 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002071 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002174 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002360 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002395 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002451 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0003487 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0003785 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0004373 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0008297 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0012378 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0045007 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000666 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000722 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000821 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000822 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001370 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002166 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002601 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002650 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0005876 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0007325 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001249 ORPHA:98808 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000160 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000189 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000324 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000347 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000348 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000486 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000508 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000520 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0001387 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0001511 ORPHA:1323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0002162 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0002683 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0002650 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0003272 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0003307 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0003422 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0004322 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0004422 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0005048 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0006101 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0100490 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0100555 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0001332 ORPHA:98809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0002072 ORPHA:98809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0002305 ORPHA:98809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0004305 ORPHA:98809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0100660 ORPHA:98809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0011157 ORPHA:98809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0001250 ORPHA:98809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0002076 ORPHA:98809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0002356 ORPHA:98809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000239 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000256 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000270 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000303 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000316 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000337 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000400 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000453 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000682 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000944 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001156 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001249 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001263 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001328 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001582 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0002684 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0002750 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0003103 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0003510 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0004279 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0004437 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0005465 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0005692 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0006101 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0006660 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0007495 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0008065 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0009773 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0011001 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0011002 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000023 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000028 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000036 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000039 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000047 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000154 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000614 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0005916 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001167 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0003070 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0010628 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0012471 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0100541 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000135 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000175 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000176 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000193 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000238 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001252 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001274 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001331 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001376 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001804 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001812 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0002650 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0002705 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0002808 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0003241 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0000707 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0001332 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0002059 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0002500 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0002758 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0003445 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0003458 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0005108 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0100285 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0000234 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0001300 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0003236 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0003444 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0006959 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0007354 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0012647 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0100022 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0002134 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0002145 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0002486 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0002511 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0002715 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0003396 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0003398 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0003416 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0003737 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0007361 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0012486 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0012548 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0030113 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0030197 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0100315 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1320 Idiopathic camptocormia HP:0100614 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0000643 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0000726 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0002015 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0001618 ORPHA:98805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0007325 ORPHA:98805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0012049 ORPHA:98805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0000182 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0000194 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0000473 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0001288 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0003782 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0009938 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0002075 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0002098 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0002751 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0004305 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98805 Primary dystonia, DYT4 type HP:0007351 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98806 Primary dystonia, DYT6 type HP:0001332 ORPHA:98806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98806 Primary dystonia, DYT6 type HP:0007325 ORPHA:98806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98806 Primary dystonia, DYT6 type HP:0001260 ORPHA:98806 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98806 Primary dystonia, DYT6 type HP:0000473 ORPHA:98806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98806 Primary dystonia, DYT6 type HP:0000643 ORPHA:98806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98806 Primary dystonia, DYT6 type HP:0012049 ORPHA:98806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98806 Primary dystonia, DYT6 type HP:0012179 ORPHA:98806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98806 Primary dystonia, DYT6 type HP:0031008 ORPHA:98806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98806 Primary dystonia, DYT6 type HP:0002451 ORPHA:98806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0004373 ORPHA:98807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0001609 ORPHA:98807 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0007325 ORPHA:98807 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0000473 ORPHA:98807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0000733 ORPHA:98807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0001304 ORPHA:98807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0002172 ORPHA:98807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0004305 ORPHA:98807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0001332 ORPHA:98807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0002451 ORPHA:98807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0006961 ORPHA:98807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0012179 ORPHA:98807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0002174 ORPHA:98807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98807 Primary dystonia, DYT13 type HP:0002345 ORPHA:98807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0002034 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0002573 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0002597 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0003549 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0004296 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0005224 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0025015 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0100590 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0002014 ORPHA:70475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0005214 ORPHA:70475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0012089 ORPHA:70475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0012702 ORPHA:70475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70475 Radiation proctitis HP:0100806 ORPHA:70475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0000010 ORPHA:93110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0010957 ORPHA:93110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0012622 ORPHA:93110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0000076 ORPHA:93110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0000126 ORPHA:93110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0000020 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0000083 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0000822 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0003774 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0008718 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0008897 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0010677 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0010945 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0012330 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0000016 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0000278 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0000316 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0001254 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0001562 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0005105 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0008661 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93110 Posterior urethral valve HP:0100518 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70476 Vernal keratoconjunctivitis HP:0000481 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70476 Vernal keratoconjunctivitis HP:0000502 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70476 Vernal keratoconjunctivitis HP:0000591 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70476 Vernal keratoconjunctivitis HP:0000613 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70476 Vernal keratoconjunctivitis HP:0000632 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70476 Vernal keratoconjunctivitis HP:0000989 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70476 Vernal keratoconjunctivitis HP:0011496 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70476 Vernal keratoconjunctivitis HP:0011859 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70476 Vernal keratoconjunctivitis HP:0012393 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70476 Vernal keratoconjunctivitis HP:0100699 ORPHA:70476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000003 ORPHA:93111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000047 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000083 ORPHA:93111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000085 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000104 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000303 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000365 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000813 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000819 ORPHA:93111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000821 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000952 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001249 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001263 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001369 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001397 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001919 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001959 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001994 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0002021 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0002149 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0002910 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0005584 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0005692 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0009715 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0012092 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0012093 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0012873 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0100800 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0100820 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0001674 ORPHA:1329 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0010445 ORPHA:1329 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0001508 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0003115 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0005120 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0012382 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0025447 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0030950 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0030973 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0031650 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0031664 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0000961 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0000975 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0001635 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0001640 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0001649 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0001667 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0001708 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0002240 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0002789 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0006532 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0011968 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0030828 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0030864 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0001254 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0001678 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0004890 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0011712 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0030830 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0030848 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0031595 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0031658 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0100786 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1329 Complete atrioventricular septal defect HP:0001999 ORPHA:1329 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000016 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000135 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000365 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000501 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000520 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000648 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000670 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000684 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000763 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000823 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000925 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000929 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0000940 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0001251 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0001324 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0001376 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0001533 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0001639 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0001744 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0001763 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0001882 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0001903 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0001999 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002007 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002039 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002167 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002240 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002515 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002644 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002650 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002652 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002653 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002673 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002808 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002818 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002823 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002857 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0002992 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0040071 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0003063 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0003202 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0003307 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0003565 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0004326 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0005464 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0005791 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0006501 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0007552 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0007807 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0008872 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0010628 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0012544 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0100255 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1328 Camurati-Engelmann disease HP:0100774 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000160 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000218 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000248 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000252 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000275 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000276 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000286 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000303 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000368 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000463 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000482 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000506 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000581 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000664 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000689 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000767 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000768 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000774 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000960 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000995 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001156 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001249 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001250 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001263 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001511 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001770 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001822 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001831 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0002414 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0002553 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0002714 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0002750 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0002967 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0003196 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0003312 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0003691 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0004322 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0005280 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0006292 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0008551 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0009882 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0009891 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0009907 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0010807 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0011800 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0012368 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0100490 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001252 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001263 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001508 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001942 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002151 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002401 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002490 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0003128 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0008347 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0012379 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001263 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001250 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001251 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001257 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001324 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001397 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001410 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001639 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002072 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002344 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002376 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002465 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002540 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0003688 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0007183 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0009830 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0010841 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0011203 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0100022 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0000248 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001290 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001627 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001635 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001999 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002015 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002020 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002060 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002310 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002870 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002878 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0005599 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0007325 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0010536 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0011471 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0012243 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0100660 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0000066 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0000252 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0000767 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0001511 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0001762 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0001885 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0002827 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0003065 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0004322 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0004634 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0005643 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0011917 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0100490 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000077 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000238 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000256 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000365 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000369 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000494 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000520 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000774 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000926 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000944 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0000956 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0001156 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0001250 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0001252 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0001385 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0001387 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0001511 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0001561 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0001582 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0001631 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0001643 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002007 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002089 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002093 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002119 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002187 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002282 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0030680 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002652 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002676 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002808 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002867 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0002983 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0005280 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0005692 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0008873 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0010306 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0010880 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0011800 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0012368 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2655 Thanatophoric dysplasia HP:0100781 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1325 Camptodactyly-taurinuria syndrome HP:0001836 ORPHA:1325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1325 Camptodactyly-taurinuria syndrome HP:0003166 ORPHA:1325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1325 Camptodactyly-taurinuria syndrome HP:0003355 ORPHA:1325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1325 Camptodactyly-taurinuria syndrome HP:0100490 ORPHA:1325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000496 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000639 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001249 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001250 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001251 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001257 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001268 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001276 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001324 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001332 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001508 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001626 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001635 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001639 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001644 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002015 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002033 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002086 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002098 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002104 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002119 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002151 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002283 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002363 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002490 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002538 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002878 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0006999 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0007110 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0007159 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0007941 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0008947 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0012758 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0030085 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0100660 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000091 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000104 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000110 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000365 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000488 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000505 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000570 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000602 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000648 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001263 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001410 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001488 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001642 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001653 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001903 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001947 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002072 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002339 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002376 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002415 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002453 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0004305 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0007204 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0009830 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0010663 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0012707 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0025045 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0031546 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0200147 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000998 ORPHA:70474 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000083 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000093 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000233 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000272 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000365 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000463 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000486 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000494 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000545 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000944 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0001182 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0001252 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0001595 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0001643 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0001646 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0002907 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0004445 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0005280 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0010864 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0011069 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0012471 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0100820 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0001249 ORPHA:86814 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0001336 ORPHA:86814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0002197 ORPHA:86814 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0002315 ORPHA:86814 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0002353 ORPHA:86814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0002378 ORPHA:86814 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0007359 ORPHA:86814 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0100576 ORPHA:86814 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0000253 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0000486 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0000733 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0001252 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0001270 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002355 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0011968 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0100660 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0000505 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0000729 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0000749 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0000817 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0001257 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0001266 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0001273 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0001332 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0001336 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0001344 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002019 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002020 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002069 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002310 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002360 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002487 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0003763 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0003781 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0004322 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0004325 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0007359 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0008850 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0011344 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0012448 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0012469 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0030215 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0100022 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0100543 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0000735 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0001274 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0001302 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002079 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002376 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002465 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002540 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002650 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002751 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002795 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0007766 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0002133 ORPHA:561854 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:561854 FOXG1 syndrome HP:0012171 ORPHA:561854 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0000969 ORPHA:86816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0003073 ORPHA:86816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0001518 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0001622 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0003075 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0003077 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0003124 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0005413 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0009125 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0010702 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0010741 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0012378 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0000282 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0001513 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0001562 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0002783 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0005268 ORPHA:86816 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0011342 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86816 Congenital analbuminemia HP:0030851 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002355 ORPHA:86812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003551 ORPHA:86812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0000252 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0000750 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0001249 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002515 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002938 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003236 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003391 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003557 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003560 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003687 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003701 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003733 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0008981 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0000729 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0001319 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0001638 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0001712 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002027 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002094 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002098 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002650 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003198 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003306 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003325 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003388 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003700 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003803 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0010794 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0012735 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0031108 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293807 Ketamine-induced biliary dilatation HP:0000738 ORPHA:293807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293807 Ketamine-induced biliary dilatation HP:0002027 ORPHA:293807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293807 Ketamine-induced biliary dilatation HP:0012440 ORPHA:293807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293807 Ketamine-induced biliary dilatation HP:0100518 ORPHA:293807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1313 Infantile choroidocerebral calcification syndrome HP:0000486 ORPHA:1313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1313 Infantile choroidocerebral calcification syndrome HP:0001250 ORPHA:1313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1313 Infantile choroidocerebral calcification syndrome HP:0001347 ORPHA:1313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1313 Infantile choroidocerebral calcification syndrome HP:0002514 ORPHA:1313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1313 Infantile choroidocerebral calcification syndrome HP:0010864 ORPHA:1313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0000023 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0000028 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0000316 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0000347 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0000411 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0000453 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0000463 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0000889 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0001156 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0001249 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0001363 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0001531 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0002650 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0002750 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0003312 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0003510 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0006283 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0008905 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0009804 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2645 Osteoglosphonic dysplasia HP:0011849 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93109 Congenital megacalycosis HP:0100581 ORPHA:93109 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93109 Congenital megacalycosis HP:0000010 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93109 Congenital megacalycosis HP:0000105 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93109 Congenital megacalycosis HP:0000107 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93109 Congenital megacalycosis HP:0000126 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93109 Congenital megacalycosis HP:0000790 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93109 Congenital megacalycosis HP:0001970 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93109 Congenital megacalycosis HP:0012211 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93109 Congenital megacalycosis HP:0000787 ORPHA:93109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93109 Congenital megacalycosis HP:0006000 ORPHA:93109 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0000324 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0000520 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0000708 ORPHA:1310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0001945 ORPHA:1310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0002093 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0002650 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0004490 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0005731 ORPHA:1310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0005791 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0006465 ORPHA:1310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0008872 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0010702 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0100658 ORPHA:1310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1310 Caffey disease HP:0100963 ORPHA:1310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000003 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000009 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000091 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0008678 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0011130 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0012575 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0012622 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000010 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000020 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000070 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000072 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000076 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000083 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000105 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000126 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0000822 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0001562 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0002027 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0004722 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0005999 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0012300 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0012330 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0012596 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0030157 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0031500 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0031501 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0001586 ORPHA:93108 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93108 Renal dysplasia HP:0010957 ORPHA:93108 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1319 Camptobrachydactyly HP:0001153 ORPHA:1319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1319 Camptobrachydactyly HP:0001156 ORPHA:1319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1319 Camptobrachydactyly HP:0001231 ORPHA:1319 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1319 Camptobrachydactyly HP:0001770 ORPHA:1319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1319 Camptobrachydactyly HP:0001800 ORPHA:1319 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1319 Camptobrachydactyly HP:0006101 ORPHA:1319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1319 Camptobrachydactyly HP:0009465 ORPHA:1319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1319 Camptobrachydactyly HP:0009601 ORPHA:1319 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1319 Camptobrachydactyly HP:0100490 ORPHA:1319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0000083 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0000091 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0005563 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0011035 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0012210 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0012622 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0030162 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0000010 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0000069 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0000076 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0000093 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0000122 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0000125 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0000126 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0000822 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0001518 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0001622 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0001944 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0001959 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93101 Renal hypoplasia HP:0010481 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0000003 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0000175 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0000268 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0000280 ORPHA:1318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0000476 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0000765 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0000772 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0001004 ORPHA:1318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0001156 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0001522 ORPHA:1318 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0001562 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0001732 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0001737 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0001789 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0002240 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0002242 ORPHA:1318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0030680 ORPHA:1318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0002652 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0002863 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0002983 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0005562 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0006487 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0007495 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0008056 ORPHA:1318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0010781 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0100569 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1318 Campomelia, Cumming type HP:0100760 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0000464 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0001513 ORPHA:70482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0001608 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0001824 ORPHA:70482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0002015 ORPHA:70482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0002020 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0002242 ORPHA:70482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0002716 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0012735 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0100247 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0100580 ORPHA:70482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0100749 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70482 Carcinoma of esophagus HP:0100751 ORPHA:70482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0000252 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0000494 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0000518 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0000772 ORPHA:2643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0001156 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0001249 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0001252 ORPHA:2643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0001511 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0001875 ORPHA:2643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0002119 ORPHA:2643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0002205 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0002714 ORPHA:2643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0002750 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0002850 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0003510 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0004315 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0005930 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0006297 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0001251 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0001257 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0001276 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0001315 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0001612 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0002093 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0002353 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0002514 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0100543 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0000252 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0001250 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0001508 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0001561 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0001608 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0002269 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1314 Symmetrical thalamic calcifications HP:0011675 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0000486 ORPHA:2634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0000545 ORPHA:2634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0002983 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0002992 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0040071 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0003022 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0003038 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0003042 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0003048 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0003498 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0005048 ORPHA:2634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0009465 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0010781 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0007099 ORPHA:268882 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002315 ORPHA:268882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002331 ORPHA:268882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0030833 ORPHA:268882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0040010 ORPHA:268882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0000360 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0000639 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0001293 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0001605 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002015 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002066 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002073 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002196 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002321 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002395 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002516 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002650 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002949 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0003396 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0003474 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0004602 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0004608 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0006824 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0007067 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0009591 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0010558 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0010825 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0010826 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0011389 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0012046 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0012534 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0025258 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0000020 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0000613 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0000651 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0001324 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0001437 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0002512 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0003487 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0005758 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0008615 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0010536 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0012366 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268882 Arnold-Chiari malformation type I HP:0030195 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0012735 ORPHA:1302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0001945 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0001974 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0002039 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0002091 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0002094 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0003565 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0011897 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0012378 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0025179 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0030830 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0031246 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0000961 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0001824 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0002105 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0011227 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0030828 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0031994 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0032016 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0100749 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0002098 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0002107 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0002829 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0012418 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0025421 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1302 Cryptogenic organizing pneumonia HP:0030166 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0000175 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0000238 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0000348 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0000368 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0000518 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0000772 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0000774 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0000944 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0001387 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0002650 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0002652 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0002808 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0002826 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0002983 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0003103 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0003312 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0003336 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0003510 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0004209 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0005108 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0005280 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0006703 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0008434 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0100490 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0100670 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2635 Metatropic dysplasia HP:0100818 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000028 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000046 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000048 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000059 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000062 ORPHA:1300 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000175 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000219 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000347 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000453 ORPHA:1300 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000772 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0001171 ORPHA:1300 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0001328 ORPHA:1300 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0001387 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0001597 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0001770 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0002230 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0002650 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0006101 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0008288 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0009754 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0009755 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0009756 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0100267 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0100335 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000072 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000077 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000079 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000126 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000252 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000269 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000278 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000347 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000358 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000369 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000414 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000448 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000470 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000501 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000520 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000924 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000938 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000939 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000944 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0008070 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001156 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0005916 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001167 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001176 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001249 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001250 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001257 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001263 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001276 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001328 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001511 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001596 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001622 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002063 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002094 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002121 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002133 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002748 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002749 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002750 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002878 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002983 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0003172 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0003189 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0003312 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0003510 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0003552 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0004279 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0005108 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0005613 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0006660 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0007598 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0008818 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0009832 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0009836 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0010443 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0010935 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0011097 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0011457 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0045074 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0100530 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0100569 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000028 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000175 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000176 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000193 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000268 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000272 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000340 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000474 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000494 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0004209 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0009912 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0012471 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000055 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000252 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000278 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000293 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000369 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000407 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000430 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000431 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000448 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000494 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000691 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000826 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000944 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000958 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001053 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001156 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001249 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001250 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001263 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001297 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001511 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001601 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001611 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001620 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001631 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001643 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001903 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001956 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002079 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002119 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002205 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002213 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002617 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002650 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002750 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002777 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002812 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002866 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002983 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0003275 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0003498 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0004209 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0005692 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0005930 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0007018 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0007565 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0009804 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0009906 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0045025 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0100545 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0100659 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0100840 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0000446 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0001156 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0001172 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0001376 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0002818 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0002983 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0002992 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0040071 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0003272 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0004322 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0005048 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0005930 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0006492 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0007598 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0008368 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000365 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000508 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000537 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0002553 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0002974 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0006394 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000202 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000316 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000494 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000506 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000581 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000593 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0001249 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0001363 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0001540 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0002265 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0002558 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0002650 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0002714 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0003298 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0003307 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0008689 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0008897 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000369 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0000377 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0001537 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0002825 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0002827 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0005105 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293843 3MC syndrome HP:0040016 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0000952 ORPHA:90062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001404 ORPHA:90062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002910 ORPHA:90062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0012115 ORPHA:90062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0000713 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0000846 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0000978 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001289 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001350 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0000712 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001873 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001943 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001987 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002013 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002014 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002018 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002329 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002605 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002614 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002615 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002793 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002795 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0003225 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0003256 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0008151 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0008169 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0008321 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0030977 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0000716 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0000988 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001250 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001251 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001259 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001298 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001892 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001919 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001941 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001945 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0001948 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002170 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002181 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002239 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002311 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002516 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002625 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0002883 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0007021 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0012417 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0031273 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90062 Acute liver failure HP:0031844 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1309 Medullary sponge kidney HP:0000787 ORPHA:1309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1309 Medullary sponge kidney HP:0000790 ORPHA:1309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1309 Medullary sponge kidney HP:0001528 ORPHA:1309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1309 Medullary sponge kidney HP:0002150 ORPHA:1309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1309 Medullary sponge kidney HP:0008341 ORPHA:1309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000003 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000028 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000085 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000175 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000191 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000212 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000218 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000233 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000243 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000252 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000286 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000319 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000343 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000347 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000368 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000463 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000470 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000486 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000582 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000767 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000776 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0000960 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001161 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001249 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001250 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001252 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001373 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001376 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001522 ORPHA:1308 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001531 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001539 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001561 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001582 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001770 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0001883 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0002019 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0030680 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0002983 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0003083 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0003196 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0004209 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0004322 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0004378 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0004422 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0005280 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0007370 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0007598 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0007601 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0008678 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0010318 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0010458 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0010720 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0010978 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1308 C syndrome HP:0100720 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0000980 ORPHA:90064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0009763 ORPHA:90064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0011121 ORPHA:90064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0012514 ORPHA:90064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0025018 ORPHA:90064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0001974 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0003401 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0003690 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0006937 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0030846 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0031271 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0001297 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0001658 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0001941 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0003470 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0004755 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90064 Acute peripheral arterial occlusion HP:0100758 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000028 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000083 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000089 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000093 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000160 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000171 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000175 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000218 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000256 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000308 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000327 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000368 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000405 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000407 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000426 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000545 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000639 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000691 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0005916 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0001839 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0002342 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0002916 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0040071 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0003019 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0003028 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0004322 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0006501 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0008368 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0009601 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0012165 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0009145 ORPHA:90065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0000822 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001133 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001259 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001342 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002013 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002018 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002315 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002354 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0012250 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0100543 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0000238 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0000505 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0000821 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001250 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001279 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001635 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001658 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001712 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001974 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002140 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002344 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002490 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002637 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0003074 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0003124 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0004302 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0005184 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0006824 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0030955 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0031058 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0031885 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0040075 ORPHA:90065 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0010739 ORPHA:1306 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0100898 ORPHA:1306 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0000944 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0001482 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0002652 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0002653 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0003330 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0004322 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0005469 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0005789 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0005930 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0007513 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0100774 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0200034 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0001371 ORPHA:1306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0001387 ORPHA:1306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0100324 ORPHA:1306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0000083 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0000164 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0000365 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0000486 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0000505 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0000822 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0000982 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0000987 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0001004 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0001028 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0001369 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0001609 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0001679 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0002757 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0002829 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0003326 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0007488 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0009055 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0009121 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0001363 ORPHA:1306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1306 Buschke-Ollendorff syndrome HP:0010554 ORPHA:1306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000028 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000252 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000286 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000316 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000325 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000543 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000649 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000708 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000713 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000729 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000750 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0001263 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000767 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0010554 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0001249 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0001252 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000964 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0004322 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0002079 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0002119 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0002123 ORPHA:314389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0002521 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000232 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0002788 ORPHA:314389 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0003236 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0003282 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0003700 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0004691 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0005280 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0001054 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0007328 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0009908 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0011265 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0011343 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0012751 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0030353 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0100739 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0000202 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0000252 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0000347 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0000407 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0000463 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0001156 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0001249 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0001643 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0001734 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0001743 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0001770 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0001822 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0002032 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0002247 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0003312 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0004209 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0004322 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0005280 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0008572 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0009468 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1305 Feingold syndrome HP:0012745 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000175 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000233 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000278 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000368 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000396 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000944 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0002089 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0002101 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0003027 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0003042 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0003272 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0003422 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0005916 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0005930 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0006487 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0010781 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0100490 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0000218 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0001191 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0002983 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0040071 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0003067 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0003510 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0005026 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0005930 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0006487 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0006492 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0008873 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0009465 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2632 Langer mesomelic dysplasia HP:0100864 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001392 ORPHA:1304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0000975 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001369 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001744 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001824 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001882 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001903 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001945 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002018 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002039 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002240 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002829 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0003095 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0003237 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0003565 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0011024 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0011227 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0012378 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0025155 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0025406 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0000031 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0000099 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0000119 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0000707 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0000716 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0000951 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0000979 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001508 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001518 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001622 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001873 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001971 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001974 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002011 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002013 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002027 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002090 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002202 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002315 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002716 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002754 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002923 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0003496 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0005086 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0005268 ORPHA:1304 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0005561 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0008843 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0009830 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0012252 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0012317 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0012387 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0025143 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0025245 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0030350 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0032252 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0100326 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0100523 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0100796 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0410008 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0000708 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001626 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001646 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001701 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0001894 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002072 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002326 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0002383 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0004418 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0012089 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0012122 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0012424 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0012819 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0025044 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0030250 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0031910 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0032620 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1304 Brucellosis HP:0100584 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0000709 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0000713 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0000725 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0000822 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0000975 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0001649 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0001945 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0011499 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0011999 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0100749 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0100754 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0000093 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0001658 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002013 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002018 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002027 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002107 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002113 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002789 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0003236 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0004372 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0005115 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0006803 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0008765 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0012735 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0025421 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0025435 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0030157 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0030828 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0031258 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0100598 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0000099 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0000746 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0000790 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0001250 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0001259 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0001337 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0001342 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0001657 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0001919 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0001970 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002069 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002098 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002105 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002133 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002138 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002140 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002583 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002615 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002647 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0002883 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0003201 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0004305 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0004308 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0005244 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0005521 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0006677 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0007359 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0011106 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0011151 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0025085 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0025420 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90068 Cocaine intoxication HP:0031368 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0000248 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0000268 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0000486 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0000960 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0001249 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0001376 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002650 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002857 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002970 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002974 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002983 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002991 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002992 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0040071 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0003019 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0003027 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0003042 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0004209 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0006101 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0006501 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0007598 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0008368 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0008845 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0010781 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0100490 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0100729 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0002094 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0006536 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0011946 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0012418 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0012735 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0030877 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0032341 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0032342 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0032359 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0002090 ORPHA:1303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0011947 ORPHA:1303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0031246 ORPHA:1303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0045051 ORPHA:1303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0002110 ORPHA:1303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0002960 ORPHA:1303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0025179 ORPHA:1303 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0002113 ORPHA:90060 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0001824 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0001903 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0001945 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0002105 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0002960 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0003565 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0012735 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0025179 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0000093 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0000152 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0000707 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0000790 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0000924 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0000951 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0001873 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0001974 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0002094 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0002923 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0003259 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0003453 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0003493 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0003613 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0004887 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0005421 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0012418 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0045042 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0045050 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0100749 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0002091 ORPHA:90060 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0002206 ORPHA:90060 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0006536 ORPHA:90060 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0025174 ORPHA:90060 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90060 Diffuse alveolar hemorrhage HP:0030950 ORPHA:90060 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001518 ORPHA:90051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001622 ORPHA:90051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001649 ORPHA:90051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0010978 ORPHA:90051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0040187 ORPHA:90051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0000980 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001319 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001875 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001942 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001945 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001974 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0002094 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0002579 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0003270 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0004325 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0011227 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0011410 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0012719 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0030783 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0031602 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0032169 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0000236 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0000952 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0000961 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0000967 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0000969 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0000979 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001250 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001265 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001287 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001410 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001662 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001744 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001873 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001892 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0001903 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0002013 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0002014 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0002240 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0002615 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0004387 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0004713 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0002795 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0005968 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0030863 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0100520 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0011880 ORPHA:90051 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90051 Sepsis in premature infants HP:0031696 ORPHA:90051 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000023 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000098 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000278 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000316 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000525 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000766 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000822 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000965 ORPHA:91387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000978 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001166 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001297 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001640 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001643 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001647 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001659 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001677 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001763 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002105 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002107 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002138 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002140 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002326 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002616 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002647 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002650 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002705 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002875 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0003549 ORPHA:91387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004933 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004944 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0005112 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004959 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0005162 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004950 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004950 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004950 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0011106 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0012163 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0012499 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0012763 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0100749 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0100775 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0200146 ORPHA:91387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000020 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000729 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000735 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000750 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001263 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002167 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000722 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000739 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001167 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001388 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002020 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002591 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0007018 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0008947 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0011343 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0011344 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0012443 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0012450 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0025160 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0200136 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000010 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000179 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000219 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000243 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000319 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000369 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000411 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000483 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000486 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000540 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000718 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000954 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001357 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001488 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001597 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001780 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001852 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001956 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002013 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002059 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002079 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002119 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002360 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002376 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002788 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002835 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0004322 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0005216 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0006288 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0006610 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0007042 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0008551 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0009890 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0010442 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0011342 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0011471 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0030680 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0100704 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0200006 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000023 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000028 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000248 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000252 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000577 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000612 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000637 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0000646 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001007 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001118 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001156 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001250 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001276 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0001537 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002098 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0002209 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0004691 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0005280 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0008935 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0010055 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404448 ADNP syndrome HP:0011304 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0025643 ORPHA:65250 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0003457 ORPHA:65250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0003419 ORPHA:65250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0003474 ORPHA:65250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0005107 ORPHA:65250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0012514 ORPHA:65250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0000020 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0000716 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0000789 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0002839 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0002936 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0003306 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0003401 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0003698 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0004302 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0009053 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0011868 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0012700 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0030014 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0030016 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0030943 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0031952 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0040307 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0000010 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0000802 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0002027 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0002315 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0002355 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0002540 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0002607 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0003394 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0005765 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0010835 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0012877 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0025238 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0030834 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0030838 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0031520 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0031826 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0100711 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0100749 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:65250 Perineural cyst HP:0500005 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0000272 ORPHA:1885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0000303 ORPHA:1885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0000505 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0000518 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0000639 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0000646 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0000822 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0001083 ORPHA:1885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0001387 ORPHA:1885 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0009918 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1885 Isolated ectopia lentis HP:0100543 ORPHA:1885 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0000407 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0000670 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0000962 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0001166 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0002208 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0002299 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0002650 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0002808 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0004322 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0007529 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0008070 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0009183 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0100490 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0100543 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0045075 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000632 ORPHA:1882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000708 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000821 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000966 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000995 ORPHA:1882 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0001596 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0001810 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0002205 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0002209 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0002213 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0002750 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0004322 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0008391 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0012265 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001622 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001631 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001635 ORPHA:1880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001643 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001645 ORPHA:1880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001671 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0002093 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0030680 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0002637 ORPHA:1880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0004306 ORPHA:1880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0004420 ORPHA:1880 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0005110 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0010316 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0011575 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0011675 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0011712 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0012378 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0100749 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0000238 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0000248 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0000256 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0000272 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0000316 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0000407 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0000508 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0000520 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0001034 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0001053 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0001263 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0001357 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0001773 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0002516 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0002705 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0004279 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0004440 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0005599 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0008368 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0009702 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53271 Muenke syndrome HP:0010579 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000407 ORPHA:314404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0030050 ORPHA:314404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000648 ORPHA:314404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0003287 ORPHA:314404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000020 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000518 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000639 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000716 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000763 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0001251 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0001257 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0001268 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0001272 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0001347 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002059 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002200 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002322 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002346 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002354 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002476 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002500 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002529 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002921 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0003487 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0003550 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0007082 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0007366 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0009830 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000256 ORPHA:404443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0011407 ORPHA:404443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000708 ORPHA:404443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001513 ORPHA:404443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002342 ORPHA:404443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002751 ORPHA:404443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0008947 ORPHA:404443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000028 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000280 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000311 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000574 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000739 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001250 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001256 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001382 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001566 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001631 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001831 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002119 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002308 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002376 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0008094 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0010864 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0045025 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0100753 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000303 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000316 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000718 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001537 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001643 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001653 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002000 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002002 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002616 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0003508 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0005180 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0007302 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0011688 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0012324 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0100634 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000750 ORPHA:404440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001249 ORPHA:404440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002194 ORPHA:404440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0005105 ORPHA:404440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000343 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000369 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000431 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000463 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000729 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001252 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001488 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002714 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000028 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000175 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000190 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000193 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000219 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000248 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000294 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000319 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000347 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000486 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000494 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000540 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000545 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000568 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000581 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000582 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000722 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000739 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001250 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001627 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001629 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001830 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002002 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002360 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002373 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002553 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002566 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002650 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002808 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0004691 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0005280 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0007018 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0009836 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0010663 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0011968 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0012377 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0012450 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0012718 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0100259 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0100559 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0001248 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0001762 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0002093 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0002827 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0002999 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0003042 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0003063 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0003417 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0004976 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0006408 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0008417 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0000218 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0000347 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0001188 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0001263 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0001561 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0002990 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0003049 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0003862 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0003902 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0003974 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0005257 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0005619 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0005736 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0005905 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0006384 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56305 Atelosteogenesis type III HP:0008755 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0009826 ORPHA:56304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000175 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000470 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000773 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000774 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001156 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001193 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001230 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001234 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001591 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001602 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001776 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001840 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001852 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001999 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0002089 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0002786 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0002857 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0003097 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0003423 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0004991 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0005257 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0006009 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0006375 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0006385 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0008110 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0008752 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0008905 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0009803 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0009824 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0010049 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0012385 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0012427 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0100694 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000219 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000286 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000316 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000343 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000347 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000369 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0000506 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001357 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001538 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0001561 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0002947 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0002983 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0002987 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0004664 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0008434 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0011800 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0012810 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0100337 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56304 Atelosteogenesis type II HP:0003042 ORPHA:56304 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000726 ORPHA:412066 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000719 ORPHA:412066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002145 ORPHA:412066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002333 ORPHA:412066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002354 ORPHA:412066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0012757 ORPHA:412066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000736 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000739 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000741 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0001300 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002067 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002172 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002362 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002463 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002506 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002527 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0003552 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0007311 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0010794 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0030216 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0006892 ORPHA:412066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002503 ORPHA:412066 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0007373 ORPHA:412066 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000750 ORPHA:412069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001249 ORPHA:412069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001252 ORPHA:412069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001263 ORPHA:412069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001270 ORPHA:412069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000486 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000925 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001250 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001251 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001273 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001388 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001508 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001999 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002474 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002781 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002870 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0011477 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0011968 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0012443 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0031936 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000316 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000347 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000365 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000369 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000385 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000411 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000490 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000494 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000565 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000582 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000717 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001363 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001601 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002079 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002353 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002650 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002779 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0004887 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0005280 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0006951 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0009909 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0012448 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0025267 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0025573 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0100704 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1873 Jalili syndrome HP:0000505 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1873 Jalili syndrome HP:0000551 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1873 Jalili syndrome HP:0000613 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1873 Jalili syndrome HP:0000639 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1873 Jalili syndrome HP:0000648 ORPHA:1873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1873 Jalili syndrome HP:0000682 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1873 Jalili syndrome HP:0000705 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1873 Jalili syndrome HP:0007703 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1873 Jalili syndrome HP:0011073 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1872 Cone rod dystrophy HP:0000505 ORPHA:1872 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1872 Cone rod dystrophy HP:0000551 ORPHA:1872 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1872 Cone rod dystrophy HP:0000613 ORPHA:1872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1872 Cone rod dystrophy HP:0000662 ORPHA:1872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1872 Cone rod dystrophy HP:0007703 ORPHA:1872 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1871 Progressive cone dystrophy HP:0000505 ORPHA:1871 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1871 Progressive cone dystrophy HP:0000512 ORPHA:1871 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1871 Progressive cone dystrophy HP:0000551 ORPHA:1871 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1871 Progressive cone dystrophy HP:0000613 ORPHA:1871 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1871 Progressive cone dystrophy HP:0007703 ORPHA:1871 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002059 ORPHA:404454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002487 ORPHA:404454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0007141 ORPHA:404454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000633 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001249 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001263 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001272 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001344 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001508 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001518 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002123 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002187 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002353 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002376 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002465 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002540 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002659 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002870 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002910 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003563 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003785 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012153 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012447 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012450 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0025455 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0025457 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0025458 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0040209 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000297 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000559 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000657 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001265 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001332 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001336 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001374 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001382 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001385 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001413 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001414 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001744 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001771 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001929 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002072 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002119 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002121 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002171 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002205 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002240 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002305 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002345 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002421 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002650 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002673 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002750 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002909 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003086 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003121 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003447 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003834 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0004349 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0005484 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0005543 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0010819 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0010821 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0011167 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0011900 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0011954 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0008151 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012340 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012448 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012469 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0020037 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0025336 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0025401 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0030194 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0030906 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0031008 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0031051 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0031146 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0031162 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0100899 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000543 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000548 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000577 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000580 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000648 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001488 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0011496 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0030001 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1879 Melorheostosis with osteopoikilosis HP:0000822 ORPHA:1879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1879 Melorheostosis with osteopoikilosis HP:0000951 ORPHA:1879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1879 Melorheostosis with osteopoikilosis HP:0001012 ORPHA:1879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1879 Melorheostosis with osteopoikilosis HP:0001482 ORPHA:1879 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1879 Melorheostosis with osteopoikilosis HP:0003103 ORPHA:1879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1879 Melorheostosis with osteopoikilosis HP:0010001 ORPHA:1879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1879 Melorheostosis with osteopoikilosis HP:0010739 ORPHA:1879 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0000098 ORPHA:1878 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0000298 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0001288 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0002515 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0003198 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0003236 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0003457 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0003557 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0008994 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0001633 ORPHA:1876 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0002024 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0002578 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0003198 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0003202 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0003270 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0004326 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0004389 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0011024 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0000508 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0000544 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0004295 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0005203 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000135 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000137 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000298 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000486 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000508 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000518 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0001252 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0001288 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0002808 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0002967 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0003741 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0005692 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0006610 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0008734 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0000028 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0000608 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0000750 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0001159 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0001260 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0001270 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0001285 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0001332 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0002120 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0002200 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0002307 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0002342 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0003396 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0007030 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0008780 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0011506 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0012469 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0031936 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0001738 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0001824 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002027 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002570 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0003270 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0004905 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0011892 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0012378 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0100512 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0100513 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0000939 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0001097 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0001510 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0001891 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002014 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002748 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002749 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0012047 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0000707 ORPHA:309031 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0000969 ORPHA:309031 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002583 ORPHA:309031 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0000405 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0000457 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0000774 ORPHA:1861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0000944 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001249 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001250 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001251 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001252 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001263 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001334 ORPHA:1861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0002878 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0004322 ORPHA:1861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0009826 ORPHA:1861 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000077 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000238 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000256 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000260 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000365 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000520 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000774 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000926 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000944 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000946 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000956 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001156 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001171 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001250 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001252 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001387 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001561 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001582 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001631 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001643 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002007 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002093 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002119 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002187 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002282 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002652 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002676 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002808 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002980 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002983 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0003097 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0003185 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0005280 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0006487 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0006703 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0007392 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0008909 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0010880 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0012368 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1860 Thanatophoric dysplasia type 1 HP:0100781 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000252 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000953 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001063 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001182 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001256 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001596 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0002090 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0004322 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0005590 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0007957 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0008066 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0008404 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0009381 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0011361 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000028 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000262 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000518 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001510 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001627 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0003241 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0008734 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0030148 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0500262 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000470 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000774 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001376 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001762 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002879 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002979 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002983 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0003026 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0003510 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0005268 ORPHA:1865 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0009826 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0012368 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0040064 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000028 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000119 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000160 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000175 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000238 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000252 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000347 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000358 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000369 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000431 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000519 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000520 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000773 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000946 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001007 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001059 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001195 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001371 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001627 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001789 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002084 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002089 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002093 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0003173 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0003175 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0005622 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0032548 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0100759 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1852 X-linked retinal dysplasia HP:0000486 ORPHA:1852 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1852 X-linked retinal dysplasia HP:0000505 ORPHA:1852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1852 X-linked retinal dysplasia HP:0000639 ORPHA:1852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1852 X-linked retinal dysplasia HP:0007703 ORPHA:1852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1852 X-linked retinal dysplasia HP:0007973 ORPHA:1852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1852 X-linked retinal dysplasia HP:0008046 ORPHA:1852 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001970 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0007813 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0025466 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0032589 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0032590 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0032637 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001085 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001824 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001945 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0002907 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0003259 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012122 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012123 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012213 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012378 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012595 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0025337 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0100586 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0200026 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0000505 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0000518 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0000613 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0000988 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001895 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001897 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001994 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0002027 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0002039 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0002829 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0003237 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0003326 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0003355 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0003565 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0004918 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0007902 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0007906 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0008682 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0010702 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0011227 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0011484 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0011505 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0011506 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012121 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012124 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0025188 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0030157 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0031616 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0031851 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0040049 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0100532 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0007703 ORPHA:91500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0007777 ORPHA:91500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0011525 ORPHA:91500 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0000164 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0000303 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0000689 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0001156 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0001249 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0001250 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0001385 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0002353 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0002650 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0002652 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0002808 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0002866 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0003212 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0004322 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0009882 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000175 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000365 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000545 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0001384 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0003022 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0003071 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0003498 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0005106 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0005863 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0008788 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0010582 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0045060 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000518 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000541 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000926 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0001377 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0001385 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0001883 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0003300 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0003365 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0008812 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0010055 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0010743 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000926 ORPHA:1855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0003493 ORPHA:1855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0100255 ORPHA:1855 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0001257 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002960 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0004322 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0012622 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0020151 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0410263 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000093 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000684 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000689 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000707 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000790 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000822 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000946 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0001249 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0001263 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0001270 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0001369 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0001890 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0001973 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002072 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002119 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002315 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002514 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002518 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002633 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002719 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002725 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002979 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0003326 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0003521 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0005681 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0009826 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0009882 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0012115 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0012514 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0030038 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0030047 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0030880 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0032252 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000768 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000821 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000824 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0000988 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0001045 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0001250 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0001876 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002090 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0002808 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1855 Spondyloenchondrodysplasia HP:0011800 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0012286 ORPHA:54595 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0002514 ORPHA:54595 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0010576 ORPHA:54595 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0011750 ORPHA:54595 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0012505 ORPHA:54595 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0040075 ORPHA:54595 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0000135 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0000863 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0000870 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0001085 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0001262 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0001513 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0002017 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0002315 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0002360 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0000044 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0007924 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0007987 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0008245 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0011734 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0030521 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0030588 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0000238 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0000365 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0000648 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0000823 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0001510 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0002516 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0002591 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0002637 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0002659 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0003508 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0005978 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0010535 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0000708 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0001117 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0001249 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0001250 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0001259 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0001263 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0001658 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0002321 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0002719 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0008897 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0010939 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54595 Craniopharyngioma HP:0430000 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000252 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0001249 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0001257 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0001270 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0001999 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002465 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0008936 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000478 ORPHA:404473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000708 ORPHA:404473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002376 ORPHA:404473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0011451 ORPHA:404473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000219 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000319 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000343 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000430 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000455 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000486 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000540 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000545 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000718 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000729 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002079 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002119 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002144 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002188 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002360 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0003396 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0009765 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0025160 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0100716 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000365 ORPHA:404473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0001250 ORPHA:404473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0000044 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0000252 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0000668 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0000670 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0000771 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0000823 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0000824 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0000953 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0001249 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0001596 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0002333 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0002750 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0002751 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0002828 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0004322 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0006480 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0007373 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0007481 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0009487 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0010627 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0011735 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0030353 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0031074 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0040171 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0100578 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0003700 ORPHA:157954 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0008202 ORPHA:157954 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157954 ANE syndrome HP:0008245 ORPHA:157954 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000009 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001510 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002242 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002728 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002750 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002788 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0004322 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000818 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000823 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000832 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000938 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000964 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001433 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001888 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001890 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001920 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002014 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002110 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002719 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002721 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002958 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0004387 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0004944 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0005353 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0010976 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0011123 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0011473 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0012163 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0040160 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0100646 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0100651 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0100817 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001635 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001655 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001873 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001904 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001973 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002092 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002383 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002724 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0003613 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0004966 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0011459 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0012115 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0012182 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0030355 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0005403 ORPHA:391487 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0001970 ORPHA:449395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0003237 ORPHA:449395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0032300 ORPHA:449395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0000083 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0000093 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0000790 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0001919 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0002923 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0003259 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0003493 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0004431 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0005421 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0012622 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0032298 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0032616 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0045042 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0000024 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0000105 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0000620 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0001082 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0001287 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0001410 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0001679 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0001701 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0001733 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0001824 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0001880 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0002027 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0002088 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0002102 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0002716 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0002840 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0003212 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0005200 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0006000 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0006515 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0011109 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0011123 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0011747 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0012089 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0012378 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0012578 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0012592 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0012593 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0025633 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0030991 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0031032 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0031093 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0031281 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0031549 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0045026 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0100016 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0100577 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0100646 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0500006 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0000126 ORPHA:449395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0010741 ORPHA:449395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0011227 ORPHA:449395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449395 IgG4-related kidney disease HP:0100586 ORPHA:449395 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000008 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000014 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000119 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000212 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000221 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000518 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000613 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000639 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000790 ORPHA:1839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000962 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0001131 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0001596 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0002205 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0002206 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0002213 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0002575 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0008070 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0012732 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217266 BNAR syndrome HP:0011803 ORPHA:217266 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:217266 BNAR syndrome HP:0000200 ORPHA:217266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217266 BNAR syndrome HP:0001545 ORPHA:217266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217266 BNAR syndrome HP:0002025 ORPHA:217266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217266 BNAR syndrome HP:0010322 ORPHA:217266 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217266 BNAR syndrome HP:0000104 ORPHA:217266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217266 BNAR syndrome HP:0012252 ORPHA:217266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0000008 ORPHA:1848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0000104 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0000175 ORPHA:1848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0000286 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0000316 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0000369 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0000457 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0001562 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0001563 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0001958 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0002089 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0002242 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0030680 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0002575 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0005107 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0010497 ORPHA:1848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0100335 ORPHA:1848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1848 Renal agenesis, bilateral HP:0100589 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140286 Secondary hypoparathyroidism due to impaired parathormon secretion HP:0000828 ORPHA:140286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140286 Secondary hypoparathyroidism due to impaired parathormon secretion HP:0000867 ORPHA:140286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140286 Secondary hypoparathyroidism due to impaired parathormon secretion HP:0004363 ORPHA:140286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0000707 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002721 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002921 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0004302 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0007305 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0031392 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0100706 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0100707 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0000505 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001260 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001268 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002066 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002167 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002315 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0003474 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0003690 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0004374 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0005415 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0010549 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0100543 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0000639 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0000751 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001123 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001250 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001300 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002321 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002381 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0004377 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0012246 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0025479 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0030516 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0000651 ORPHA:217260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001287 ORPHA:217260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001310 ORPHA:217260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0003401 ORPHA:217260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000348 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000364 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000457 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000463 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000470 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000773 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000774 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000940 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001155 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001172 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001252 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001373 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001508 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001591 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001631 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001639 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001643 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001824 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001883 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001903 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002007 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002014 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002017 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002093 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002205 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002240 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0030680 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002652 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002823 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002983 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0005692 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0005930 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0005989 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0008890 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0008905 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0009811 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0012368 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0100255 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0100790 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0000822 ORPHA:231580 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0003351 ORPHA:231580 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0011740 ORPHA:231580 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0002900 ORPHA:231580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0003081 ORPHA:231580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0008221 ORPHA:231580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0200114 ORPHA:231580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0000360 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0000421 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0001324 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0001959 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0001962 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0002018 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0002315 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0003394 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0000020 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0000708 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0001250 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0001257 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0001332 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0001371 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0002071 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0002072 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0002120 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0002136 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0002167 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0002300 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0002340 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0002361 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0002457 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0002607 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0005327 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0007076 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0007240 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0007256 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0007308 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157946 Huntington disease-like 3 HP:0100543 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001406 ORPHA:69663 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0011848 ORPHA:69663 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001081 ORPHA:69663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0002910 ORPHA:69663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0025502 ORPHA:69663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0030948 ORPHA:69663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0000822 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001082 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001402 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001513 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001733 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0002896 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0003124 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0005230 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0030151 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0000819 ORPHA:69663 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0002613 ORPHA:69663 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0030991 ORPHA:69663 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0100523 ORPHA:69663 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002072 ORPHA:157941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000708 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000716 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000726 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000746 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0001260 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0001288 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002066 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002119 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0004305 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0100543 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000298 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000496 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000514 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000570 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000617 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000639 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000711 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0000750 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0001250 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0001272 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0001290 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0001310 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0001350 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0001824 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002067 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002120 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002134 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002171 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002311 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002312 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002353 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002354 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002359 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002375 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002457 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0002533 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0003043 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0006801 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0006961 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0007010 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0008003 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0011446 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157941 Huntington disease-like 1 HP:0040201 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000648 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000750 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001263 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001508 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002194 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0010862 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000505 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001251 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001252 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001257 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002376 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002465 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0012087 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000062 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000252 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000518 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000603 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000618 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000639 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001250 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001272 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001273 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001276 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001320 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001622 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002066 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002079 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002134 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002353 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002506 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0007333 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0008665 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0008936 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0012430 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0012448 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0012697 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0012794 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0100022 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0000989 ORPHA:69665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0012202 ORPHA:69665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0002910 ORPHA:69665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0025031 ORPHA:69665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0100785 ORPHA:69665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0000716 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0002643 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0002904 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0003155 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0012420 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0012689 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0030782 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0030900 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0031248 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0000821 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0000952 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001082 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001337 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001518 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001541 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001622 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001732 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0002027 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0012164 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0000988 ORPHA:69665 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0002960 ORPHA:69665 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000093 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000097 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000112 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001511 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003368 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0004322 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0031409 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000455 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000691 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000707 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000822 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000926 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001003 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001034 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001250 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001263 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001297 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001510 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001622 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001875 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001888 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001903 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001999 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002315 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002621 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002637 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002655 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002719 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002926 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002938 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003077 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003182 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003270 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003300 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003521 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0005352 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0005435 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0008784 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0008839 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0012593 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0410373 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0410377 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000470 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000668 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001260 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001269 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001324 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001508 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001518 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001635 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001873 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002092 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002133 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002140 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002301 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002326 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002381 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002907 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003774 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0004931 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0005280 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0006344 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0006813 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0007957 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0012579 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001298 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001733 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002242 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002376 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002960 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0005523 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0005528 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1830 Schimke immuno-osseous dysplasia HP:0012539 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0000708 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0000736 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0001250 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0001289 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002354 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0012229 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0032264 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0032266 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0000738 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0000739 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0000746 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0001945 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002013 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002014 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002315 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0004305 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0011289 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0012226 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0012332 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0100660 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0100754 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0100785 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0000709 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0000713 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0000716 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0000733 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0001266 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0001278 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0001332 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0001336 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002063 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002072 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002133 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002179 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002197 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002300 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002310 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002371 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0002463 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0003781 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0007359 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0008763 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0010553 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0012173 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0012333 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0030214 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0031258 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0003006 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0012189 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0100013 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0100521 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0100526 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217253 NMDA receptor encephalitis HP:0100616 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000218 ORPHA:168624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000243 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000256 ORPHA:168624 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000268 ORPHA:168624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000303 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000316 ORPHA:168624 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000348 ORPHA:168624 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000582 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0001256 ORPHA:168624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0001770 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0002119 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0010059 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0010807 ORPHA:168624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0011800 ORPHA:168624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0000164 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0000457 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0000691 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0000787 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0000944 ORPHA:1837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0005916 ORPHA:1837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0001608 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0002750 ORPHA:1837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0002991 ORPHA:1837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0040071 ORPHA:1837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0003272 ORPHA:1837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0003312 ORPHA:1837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0004322 ORPHA:1837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0006482 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0006501 ORPHA:1837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0002750 ORPHA:168621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0008829 ORPHA:168621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0008835 ORPHA:168621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0001974 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0002515 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0003565 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0008800 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0012514 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0031955 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0001374 ORPHA:168621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0001945 ORPHA:168621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0008812 ORPHA:168621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0030812 ORPHA:168621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0000772 ORPHA:1836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0001883 ORPHA:1836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0002967 ORPHA:1836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0002991 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0003027 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0003028 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0003063 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0003422 ORPHA:1836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0004209 ORPHA:1836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0004322 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0005009 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0005048 ORPHA:1836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0008368 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0009465 ORPHA:1836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0100490 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0000750 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0001260 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0001265 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0002066 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0002070 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0002194 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0001152 ORPHA:404499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0001249 ORPHA:404499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0001250 ORPHA:404499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0000639 ORPHA:404499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0002172 ORPHA:404499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000008 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000069 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000078 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000079 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000107 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000126 ORPHA:1834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000212 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000238 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000316 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000324 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000347 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000384 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000470 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000707 ORPHA:1834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000772 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000776 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000921 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000924 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001140 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001392 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001539 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001562 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001622 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001743 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002019 ORPHA:1834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002020 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002023 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002120 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002242 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002575 ORPHA:1834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002644 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002650 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002815 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0003312 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0003422 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0004322 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0006703 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0008551 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0008678 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0012718 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0012732 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0100542 ORPHA:1834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0007020 ORPHA:466722 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002061 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0010549 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002395 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0012407 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0003487 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0007210 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002505 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0003800 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001263 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000278 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000675 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000486 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000508 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0008936 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002080 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001260 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002421 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001250 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001344 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0005216 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002068 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002882 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002751 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0008872 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000020 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002067 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001332 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0008110 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001385 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001336 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0008689 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000011 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0025488 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002376 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0100785 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002268 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001249 ORPHA:404493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001250 ORPHA:404493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001999 ORPHA:404493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001251 ORPHA:404493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0000248 ORPHA:404493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001290 ORPHA:404493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000239 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000252 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000270 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000278 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000347 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000358 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000369 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000457 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000463 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000470 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0008501 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000169 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000212 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000520 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0001511 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0002094 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0002098 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0002878 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0003196 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0009939 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0000366 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0000499 ORPHA:1818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0000668 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0000995 ORPHA:1818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0008070 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0002231 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0006482 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0006709 ORPHA:1818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0007521 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0008388 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0100578 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0100840 ORPHA:1818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0000774 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001252 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001263 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001288 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001371 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001376 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001522 ORPHA:157973 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001558 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001635 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001883 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0002093 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0002421 ORPHA:157973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003198 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003202 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003306 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003307 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003327 ORPHA:157973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003457 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0004326 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0005692 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0011675 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0011968 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000239 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000248 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000316 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000455 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000456 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000506 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0001249 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0001263 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0001274 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0001762 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0001841 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0002056 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0002084 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0002435 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0006866 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0008388 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0009099 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0009928 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0011803 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000161 ORPHA:1827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0002119 ORPHA:1827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0002190 ORPHA:1827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0040326 ORPHA:1827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000028 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000154 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000508 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000545 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0001250 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0002690 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0002781 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0003065 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0005772 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0006951 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0010627 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0040075 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0000501 ORPHA:1827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1827 Acromelic frontonasal dysplasia HP:0025247 ORPHA:1827 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000316 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000336 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000347 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000365 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000431 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000494 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0001999 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0002650 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0002652 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0009473 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0009803 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0011304 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0100807 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000126 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000280 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000293 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000405 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000407 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000941 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0001220 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0001239 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0001607 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0001627 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0002694 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0002949 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0002987 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0002996 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0003016 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0003083 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0006000 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0006070 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0006248 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0008081 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0008661 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0009487 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0009650 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0009882 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0010049 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0010501 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0010505 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0010562 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0010743 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0100490 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000175 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000193 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000410 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000481 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000483 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000646 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000677 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000912 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0000954 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0001249 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0001363 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0001510 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0001761 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0002308 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0003298 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0006006 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0006383 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0008952 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1826 Frontometaphyseal dysplasia HP:0009004 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000154 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000286 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000316 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000324 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000343 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000407 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000431 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000463 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000508 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000708 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000823 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0001053 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0001172 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0001249 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0001250 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0002002 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0002650 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0002750 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0003019 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0004322 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0005280 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0006101 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0007477 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0009623 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0100542 ORPHA:1825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0000252 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0000483 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0000505 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0000639 ORPHA:1824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0000926 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0001156 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0001249 ORPHA:1824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0001387 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0002656 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0002750 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0002812 ORPHA:1824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0002829 ORPHA:1824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0002999 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0003042 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0003083 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0004322 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0005930 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0007370 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0007703 ORPHA:1824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0010582 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1824 Lowry-Wood syndrome HP:0100643 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0001387 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0001763 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002653 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002757 ORPHA:1822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002758 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002823 ORPHA:1822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002857 ORPHA:1822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002970 ORPHA:1822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0003367 ORPHA:1822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0005616 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0005930 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0008368 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0008812 ORPHA:1822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0010582 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0100555 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0100777 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53296 Familial cutaneous collagenoma HP:0001000 ORPHA:53296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53296 Familial cutaneous collagenoma HP:0001631 ORPHA:53296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53296 Familial cutaneous collagenoma HP:0001635 ORPHA:53296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53296 Familial cutaneous collagenoma HP:0001638 ORPHA:53296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53296 Familial cutaneous collagenoma HP:0001681 ORPHA:53296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53296 Familial cutaneous collagenoma HP:0200034 ORPHA:53296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53296 Familial cutaneous collagenoma HP:0200036 ORPHA:53296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000078 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000278 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000365 ORPHA:1809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000411 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000561 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000858 ORPHA:1809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0001231 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0001249 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002164 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002209 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002223 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002231 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002552 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002558 ORPHA:1809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0007477 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0007502 ORPHA:1809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0007565 ORPHA:1809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0008388 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000175 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000286 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000316 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000327 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000349 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000368 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000384 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000486 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000508 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000518 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000568 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000612 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0001156 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0002084 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0002650 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0002738 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0002938 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0004112 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0004423 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0006931 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0007370 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0008591 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0010297 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0011817 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0025247 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0040019 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0100490 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0000873 ORPHA:391474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391474 Frontorhiny HP:0040075 ORPHA:391474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0000653 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0001595 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0001597 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0002209 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0002215 ORPHA:1808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0002223 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0002225 ORPHA:1808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0008401 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0008404 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0011675 ORPHA:1808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000494 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000520 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000592 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000926 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000938 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000944 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000963 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000974 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000978 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0001182 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0001371 ORPHA:157965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0001508 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0002652 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0003071 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0003370 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0003393 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0006429 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0008848 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0010489 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0100864 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0000286 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0000322 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0000431 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0000457 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0000486 ORPHA:1807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0000494 ORPHA:1807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0000632 ORPHA:1807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0001053 ORPHA:1807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0001582 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0002023 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0002553 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0002714 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0005338 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0007495 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0007565 ORPHA:1807 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0007776 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0008065 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0008070 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0009743 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0010720 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0010751 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0010935 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1807 Focal facial dermal dysplasia type III HP:0100781 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000164 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000365 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000411 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000446 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000478 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000482 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000504 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000518 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000568 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000618 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000647 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000962 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000966 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001000 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0008070 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001097 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001131 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001231 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001249 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001999 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0002167 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0002205 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0002213 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0004322 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0200042 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0000093 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0000486 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0000602 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0000726 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0000790 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0000823 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001251 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001288 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001298 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001510 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001637 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001654 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001698 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001744 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001789 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001873 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001876 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0001903 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0002092 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0002123 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0002205 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0002240 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0002653 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0002659 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0002750 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0002797 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0004380 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0004382 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0006530 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0010702 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0010885 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0011001 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77261 Gaucher disease type 3 HP:0012378 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0000486 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0000602 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0001257 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0001298 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0001332 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0001371 ORPHA:77260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0001695 ORPHA:77260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0001744 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0002015 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0002098 ORPHA:77260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0002123 ORPHA:77260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0002205 ORPHA:77260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0002240 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0002793 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77260 Gaucher disease type 2 HP:0012735 ORPHA:77260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65282 Carvajal syndrome HP:0001635 ORPHA:65282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65282 Carvajal syndrome HP:0001644 ORPHA:65282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65282 Carvajal syndrome HP:0002224 ORPHA:65282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65282 Carvajal syndrome HP:0005588 ORPHA:65282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0000987 ORPHA:231568 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0008066 ORPHA:231568 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001030 ORPHA:231568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001056 ORPHA:231568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001810 ORPHA:231568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0008404 ORPHA:231568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0031045 ORPHA:231568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001075 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001802 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001817 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0008390 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0008391 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0031446 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0200041 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0200097 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0000158 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0000238 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0000256 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0001161 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0001250 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0001251 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0002017 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0002126 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0002315 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0002516 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0006824 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0012081 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0200034 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0010619 ORPHA:65285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0012844 ORPHA:65285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0100031 ORPHA:65285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0100615 ORPHA:65285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65285 Lhermitte-Duclos disease HP:0200016 ORPHA:65285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000047 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000085 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000164 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000202 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000218 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000232 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000252 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000256 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000275 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000276 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000322 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000324 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000369 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000400 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000426 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000494 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000518 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000568 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000678 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000709 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000716 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000717 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000718 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000739 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000750 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000767 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0000768 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0001000 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0001182 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0001249 ORPHA:65286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0001263 ORPHA:65286 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0001288 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0001508 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0001611 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0001643 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0001682 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0002020 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0002092 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0003196 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0004209 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0005692 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0007018 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0007302 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65286 3q29 microdeletion syndrome HP:0008416 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000325 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000331 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000369 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000609 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000857 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0001321 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0100800 ORPHA:65288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0001873 ORPHA:91547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0001945 ORPHA:91547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0003573 ORPHA:91547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0011227 ORPHA:91547 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0000952 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0001903 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0001974 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0002315 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0002910 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0003326 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0025435 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0000079 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0001649 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0001882 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0001892 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0001919 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0002013 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0002027 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0002615 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0002829 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0003259 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0012378 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0012735 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0025143 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0031179 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0000421 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0000790 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0002014 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0002105 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0008151 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0011897 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91547 Relapsing fever HP:0011899 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0000554 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0000613 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0000708 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0001287 ORPHA:91546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0001324 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0001369 ORPHA:91546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0001386 ORPHA:91546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0001678 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0001945 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0002017 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0002315 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0002354 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0002383 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0002829 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0003326 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0003401 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0004334 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0006824 ORPHA:91546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0009830 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0011675 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0012378 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0100576 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0100785 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91546 Lyme disease HP:0200036 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000047 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000144 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000457 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000534 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000668 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000684 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000787 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000823 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000982 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0001249 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0002230 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0004322 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0007400 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0007513 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0008736 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0009721 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000023 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000028 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000175 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000238 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000256 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000278 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000286 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000316 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000369 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000490 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000492 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000494 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000682 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000691 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000767 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000821 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000958 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000963 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000966 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0001252 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0001274 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0001288 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0001561 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0001852 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0002007 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0002119 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0002213 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0002558 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0002991 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0003196 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0005280 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0007360 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0008736 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0008872 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0010624 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0010669 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0010864 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0010978 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0100840 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1811 Odontomicronychial dysplasia HP:0000164 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1811 Odontomicronychial dysplasia HP:0001597 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1811 Odontomicronychial dysplasia HP:0001799 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1811 Odontomicronychial dysplasia HP:0001816 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1811 Odontomicronychial dysplasia HP:0006323 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1811 Odontomicronychial dysplasia HP:0006337 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1811 Odontomicronychial dysplasia HP:0008383 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0000093 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0000225 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0000790 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0000823 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0000938 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0000978 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001394 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001510 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001541 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001637 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001698 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001744 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001873 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001876 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001882 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001903 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0001971 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002027 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002039 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002092 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002240 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002653 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002750 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002756 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002758 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002797 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002808 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0002953 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0005230 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0006530 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0010702 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0010741 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0010885 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77259 Gaucher disease type 1 HP:0011001 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000164 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000668 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000963 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000966 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0008070 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0002231 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0006323 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0006482 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0001231 ORPHA:1810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000457 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000964 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0001000 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0002047 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0011220 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0012471 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000164 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000218 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000325 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000343 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000347 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000400 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000411 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000414 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0045075 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000653 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000768 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0001252 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0001808 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0001820 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0002007 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0002650 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0003307 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0004209 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0004322 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0005743 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0008070 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0009882 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0010049 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0010579 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0010743 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0011069 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0011341 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0011910 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0100490 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000028 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000175 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000189 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000248 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000270 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000286 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000294 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000316 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000324 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000327 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000365 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000369 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000405 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000426 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000486 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000601 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000929 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0001357 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0001363 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0001822 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0002516 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0030680 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0003312 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0004209 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0004322 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0008551 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0010535 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0010807 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0011386 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000348 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000407 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000444 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000508 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000643 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000646 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0000648 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0001156 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0001199 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0001250 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0002076 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0002342 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0002650 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0003307 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0005037 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0005280 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0006101 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0007598 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0008572 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0009738 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0009899 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0010720 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:794 Saethre-Chotzen syndrome HP:0011304 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0000822 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0001369 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0002015 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0002960 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0003119 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0003236 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0003493 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0003701 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0008997 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0011838 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0025131 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0025142 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0030880 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0032169 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0100296 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0000077 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0000819 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0001627 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0001873 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0001882 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0002092 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0002273 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0002355 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0002725 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0002910 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0003549 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0003551 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0004269 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0006530 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0009053 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0009763 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0011121 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0100324 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206572 Overlap myositis HP:0001370 ORPHA:206572 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0000765 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0000925 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0000969 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0000988 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0001061 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0001369 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0001581 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002024 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002027 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002028 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002037 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002570 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002653 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002754 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002757 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002797 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002829 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0003765 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0004936 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0005464 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0006824 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0010622 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0100686 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0100769 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0100781 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0100847 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0200039 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0002633 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0100749 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:793 SAPHO syndrome HP:0100774 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001763 ORPHA:284984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002617 ORPHA:284984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0011645 ORPHA:284984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000023 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000139 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000193 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000218 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000272 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000276 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000316 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000348 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000689 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000978 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000987 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001065 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001166 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001537 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001653 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001659 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002076 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002315 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002647 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002650 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002758 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0003179 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0004268 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0004944 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0005086 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0005116 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0005294 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0012432 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0025487 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000278 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000767 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000768 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001388 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001519 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001627 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001642 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001712 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0003302 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0005112 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0005110 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0008419 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0010886 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0100490 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0100775 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000175 ORPHA:284984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000939 ORPHA:284984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001643 ORPHA:284984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001363 ORPHA:284984 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0000256 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0000293 ORPHA:796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0000365 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0000618 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0001250 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0001251 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0001324 ORPHA:796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0001508 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0001635 ORPHA:796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0001744 ORPHA:796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0002205 ORPHA:796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0002240 ORPHA:796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0002333 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0002652 ORPHA:796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0002808 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0004343 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0007272 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0010729 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:796 Sandhoff disease HP:0100022 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0003741 ORPHA:324604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0000218 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0001290 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0001508 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0001620 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0002091 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0002194 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0002421 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0002650 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0002828 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0002877 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0003306 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0003327 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0003700 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0004322 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0004889 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0005991 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0009058 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0030319 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0100295 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0000303 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0000308 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0001385 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0001634 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0001635 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0001667 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0001708 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0001763 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324604 Classic multiminicore myopathy HP:0030091 ORPHA:324604 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0009919 ORPHA:790 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0000486 ORPHA:790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0000501 ORPHA:790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0000520 ORPHA:790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0000555 ORPHA:790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0031615 ORPHA:790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0000554 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0001100 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0001909 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0002665 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0002669 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0002859 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0002861 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0007663 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0007703 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0007862 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0007902 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0011886 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0012372 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0025244 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0025337 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0100243 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0100658 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0000175 ORPHA:790 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0009733 ORPHA:790 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0012254 ORPHA:790 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:790 Retinoblastoma HP:0030408 ORPHA:790 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:792 X-linked retinoschisis HP:0000478 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:792 X-linked retinoschisis HP:0000496 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:792 X-linked retinoschisis HP:0000501 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:792 X-linked retinoschisis HP:0000504 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:792 X-linked retinoschisis HP:0000512 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:792 X-linked retinoschisis HP:0000518 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:792 X-linked retinoschisis HP:0030502 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000035 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000135 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000405 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000407 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000431 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000463 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000501 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000505 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000512 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000518 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000563 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000602 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000613 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000618 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000639 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000648 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000842 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0000987 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0001249 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0001347 ORPHA:791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0001513 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0005978 ORPHA:791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0007675 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0007703 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0008046 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:791 Retinitis pigmentosa HP:0008736 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157997 Benign cephalic histiocytosis HP:0000988 ORPHA:157997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157997 Benign cephalic histiocytosis HP:0100727 ORPHA:157997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157997 Benign cephalic histiocytosis HP:0200034 ORPHA:157997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157997 Benign cephalic histiocytosis HP:0011123 ORPHA:157997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0025475 ORPHA:157991 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0030350 ORPHA:157991 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0100727 ORPHA:157991 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0040186 ORPHA:157991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0000989 ORPHA:157991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0031901 ORPHA:157991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0032061 ORPHA:157991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0040126 ORPHA:157991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0001909 ORPHA:157991 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0005585 ORPHA:157991 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0002716 ORPHA:157991 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:157991 Generalized eruptive histiocytosis HP:0031871 ORPHA:157991 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000028 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000054 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000121 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000175 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000193 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000233 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000252 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000278 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000316 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000358 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000384 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000405 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000463 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000470 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000483 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000486 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000540 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000582 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000592 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000954 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000960 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001100 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001156 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001274 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001290 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001734 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001845 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001864 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0002019 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0002101 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0002162 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0002788 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0002828 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0003196 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0004209 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0004689 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0004704 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0005280 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0005495 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0006801 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0009913 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0010034 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0010864 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0010945 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0011466 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0011918 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0012758 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0030148 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0040018 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0040022 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000126 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000238 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0000633 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001250 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001305 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001636 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0001711 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0003006 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0004794 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0004969 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0005176 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0008609 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0011546 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0011939 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264450 Trisomy 8p HP:0100790 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0001945 ORPHA:319251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0003237 ORPHA:319251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0020071 ORPHA:319251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0002039 ORPHA:319251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0000478 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0000573 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0000575 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0000613 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0001324 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0003496 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0007663 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0025188 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0032118 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0032323 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0200026 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0000225 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0000554 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0000738 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0000790 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0000952 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0000988 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0001269 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0001873 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0001892 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0001903 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0001977 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0002248 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0002249 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0002315 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0002321 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0002383 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0002385 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0002910 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0003418 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0003470 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0003781 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0004372 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0005268 ORPHA:319251 TAS HP:0040284 C ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0005542 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0012115 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0012229 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0025013 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0031691 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319251 Rift valley fever HP:0040049 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0000311 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0000470 ORPHA:1803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0000773 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0000774 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0000944 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0001288 ORPHA:1803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0001591 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0002162 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0002644 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0002857 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0002991 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0003042 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0003307 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0005019 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0005692 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0008873 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0009826 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1803 Thoracomelic dysplasia HP:0012368 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0000944 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0001744 ORPHA:1802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0001903 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0002167 ORPHA:1802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0002644 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0002823 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0002992 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0003103 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0003312 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0004493 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0005019 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0006487 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0010978 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001653 ORPHA:284979 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0002097 ORPHA:284979 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0005180 ORPHA:284979 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000268 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000485 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000768 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000973 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001083 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001166 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001181 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001270 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001371 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001518 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001634 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001704 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001713 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0002616 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0002643 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001626 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0008124 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0008734 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0010511 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0011003 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0011968 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0012418 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0030148 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0100578 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0100625 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0100693 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0100807 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000347 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000369 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000431 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000490 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000494 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000592 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001252 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001265 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001382 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0002705 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0009901 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0012771 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000268 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000347 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000369 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000431 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000485 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000494 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000592 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000768 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0000973 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001083 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001166 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001181 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001252 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001265 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001270 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001371 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001382 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001518 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0002097 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0002705 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0001626 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0005180 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0004970 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0100807 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0008124 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0008734 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0009901 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0010511 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0011003 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0011968 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0030148 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0100578 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0100625 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284979 Neonatal Marfan syndrome HP:0100693 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0000347 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0000774 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0000895 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0000907 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0000921 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0000944 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0001176 ORPHA:1801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0001252 ORPHA:1801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0001376 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0001387 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0002983 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0003180 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0003312 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0003498 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0006487 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0010306 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0010561 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1801 Kyphomelic dysplasia HP:0012368 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0001297 ORPHA:786 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0001007 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0004319 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0003118 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0003154 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0012030 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0012378 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000822 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000876 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0001061 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0002900 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0008221 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0030087 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0200114 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000062 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000789 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000798 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000826 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0003118 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0001943 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0002292 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0010458 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000137 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000470 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000823 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000837 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000879 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000938 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000939 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001510 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001511 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002750 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002967 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0003492 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0004322 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0006610 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0006709 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008209 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008222 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008897 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0012774 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0040072 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0100625 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008209 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000218 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000278 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000347 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000365 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000369 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000403 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000465 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000474 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000475 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000708 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000739 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000758 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000786 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000822 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001952 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000869 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000872 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000914 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001328 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001397 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001513 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001531 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001800 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002162 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002705 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002808 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002857 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002910 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0005113 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0005689 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0006438 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0006456 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0007477 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0009759 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0010044 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0010047 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0010510 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000085 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000086 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000164 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000286 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000476 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000486 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000508 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000545 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000716 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000767 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000842 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000987 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000995 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001004 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001045 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001231 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001385 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001395 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001596 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001631 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001647 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001657 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001658 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001680 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001763 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001812 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001831 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002608 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002611 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002650 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002960 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0003067 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0003186 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0003764 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0004349 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0005603 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0005978 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0007018 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0003077 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008572 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0009118 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0011307 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0012434 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0100646 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000150 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000471 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001394 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002037 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002613 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002647 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002861 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0004383 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0004386 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0005294 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008678 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0012758 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000028 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000164 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000218 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000252 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000286 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000316 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000347 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000365 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000369 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000431 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000444 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000486 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000494 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000501 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000506 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000508 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000579 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000670 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000737 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000739 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0000987 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0001156 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0001249 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0001250 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0001263 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0001385 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0001531 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0001561 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0002019 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0002093 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0002230 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0002553 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0030680 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0004209 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0004322 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0005306 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0005692 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0006101 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0007018 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0008872 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0009832 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0010059 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0010562 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0011304 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:783 Rubinstein-Taybi syndrome HP:0100760 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000047 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000232 ORPHA:782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000316 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000327 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000365 ORPHA:782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000431 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000501 ORPHA:782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000506 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000593 ORPHA:782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000627 ORPHA:782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000668 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000691 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0000864 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0001510 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0001582 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0002025 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0030680 ORPHA:782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0005280 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0008053 ORPHA:782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0011220 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:782 Axenfeld-Rieger syndrome HP:0011800 ORPHA:782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0000013 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0000098 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0000786 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0000837 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0000938 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0000939 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0001548 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0002663 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0003117 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0003187 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0003799 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0008187 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0008197 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0008675 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0001952 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0000842 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0000956 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0001061 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0002574 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0001677 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0010679 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0000834 ORPHA:785 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0030087 ORPHA:785 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:785 Estrogen resistance syndrome HP:0100133 ORPHA:785 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:391457 HSD10 disease, neonatal type HP:0001250 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391457 HSD10 disease, neonatal type HP:0001639 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391457 HSD10 disease, neonatal type HP:0001942 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391457 HSD10 disease, neonatal type HP:0003128 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391457 HSD10 disease, neonatal type HP:0012379 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391457 HSD10 disease, neonatal type HP:0001263 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391457 HSD10 disease, neonatal type HP:0500170 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391457 HSD10 disease, neonatal type HP:0001392 ORPHA:391457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391457 HSD10 disease, neonatal type HP:0003256 ORPHA:391457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0032252 ORPHA:781 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001324 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001744 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001945 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002315 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002910 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0003326 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0003565 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0012378 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0000790 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0000924 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0000979 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001392 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001433 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001626 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001654 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001824 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001873 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001903 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002039 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002090 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002240 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002633 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002721 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002923 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0003262 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0003613 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0010702 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0012115 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0012735 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0020136 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0025015 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0030166 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0030167 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0032101 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0040186 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0100584 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001082 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001287 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001698 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0001701 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002098 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002202 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002383 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002716 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0002754 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0005162 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0006530 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0011034 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0012819 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0025343 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:781 Q fever HP:0100778 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0025238 ORPHA:566943 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0001387 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0002355 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0005656 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0010505 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0010741 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0010885 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0012098 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0030871 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0100339 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0100662 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0100925 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0001369 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0001763 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0005063 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0005086 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0008110 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0008124 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0032153 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0100535 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566943 Mueller-Weiss syndrome HP:0100694 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001922 ORPHA:565612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0003756 ORPHA:565612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0009058 ORPHA:565612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0012379 ORPHA:565612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0031331 ORPHA:565612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0000819 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001430 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001435 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001638 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001677 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001681 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001962 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0002094 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0002240 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0003077 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0003236 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0005145 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0009805 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0011675 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0032141 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0000407 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001249 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001733 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0003805 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0011123 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0031684 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0000478 ORPHA:565612 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001744 ORPHA:565612 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0008064 ORPHA:565612 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000819 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000938 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000939 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001010 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001250 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001256 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001385 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001518 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001558 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001999 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0002342 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0002360 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0002578 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0002714 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0002870 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0002871 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0005599 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0007730 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0007874 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0010741 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0010829 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0011787 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0012166 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0012411 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0012412 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000028 ORPHA:398073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001270 ORPHA:398073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001513 ORPHA:398073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0002119 ORPHA:398073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0008872 ORPHA:398073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000044 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000046 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000060 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000064 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000486 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000729 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000786 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000789 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000818 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000823 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000824 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001252 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001263 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001508 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0001773 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0002205 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0002591 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0002650 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0003241 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0004322 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0006889 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0008734 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0010627 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0011734 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0012104 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0012105 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0012650 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0025160 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0030339 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0200055 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000219 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000286 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000311 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000431 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000463 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000490 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000708 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000709 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000717 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000736 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0031100 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0031169 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0031507 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0045025 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0100716 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0100739 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398073 Prader-Willi-like syndrome HP:0000826 ORPHA:398073 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000028 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000135 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000789 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001270 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001513 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001999 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0008947 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000044 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000046 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000060 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000064 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000486 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000708 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000729 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000750 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000786 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001249 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001315 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001319 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001328 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001508 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001612 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001773 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002119 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002591 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002650 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0003241 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0008197 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0008734 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012166 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012287 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012506 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012743 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012758 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0025160 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0040288 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0200055 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0410263 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000054 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000217 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000219 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000446 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000709 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000826 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000938 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000939 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001010 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001250 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001254 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001385 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002205 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002494 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002714 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002870 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0005599 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0005978 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0007874 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0010536 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0010829 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0011787 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012411 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012412 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0025237 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0040030 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000154 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000356 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000708 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000729 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0001263 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0001270 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0002465 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0008947 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000164 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000219 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000414 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000448 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000486 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000527 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000601 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000678 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000817 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0001155 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0001488 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0001760 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0002136 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0002360 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0002370 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0002553 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0004209 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0005274 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0010055 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0011800 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000294 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000331 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000483 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000505 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000957 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0001852 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0002013 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0002020 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:313947 2q23.1 microduplication syndrome HP:0000718 ORPHA:313947 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0030200 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0002015 ORPHA:206569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003202 ORPHA:206569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003326 ORPHA:206569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0008994 ORPHA:206569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0100614 ORPHA:206569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0001962 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0002664 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003327 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003691 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0006530 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0012819 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0100749 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0000988 ORPHA:206569 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0001635 ORPHA:206569 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0002829 ORPHA:206569 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0030880 ORPHA:206569 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003198 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003236 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003458 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003713 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206569 Immune-mediated necrotizing myopathy HP:0030057 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0000217 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0000952 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0000988 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0000989 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0001097 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0001369 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0001394 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0001541 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0001945 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0002015 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0002020 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0002093 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0002240 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0002383 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0003326 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0004295 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0007400 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0011354 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0011838 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0012378 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0100579 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0100585 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0100725 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:779 Reynolds syndrome HP:0200042 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000053 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000164 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000218 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000248 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000256 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000275 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000322 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000327 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000347 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000348 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000369 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000411 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000426 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000678 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000708 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000709 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000738 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0000767 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0001156 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0001166 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0001249 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0001250 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0001252 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0001519 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0001608 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0001611 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0001631 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0002167 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0002650 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0005692 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0007018 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0007370 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0100490 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:776 Lujan-Fryns syndrome HP:0100753 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0000253 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0000733 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0001263 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0001288 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0001344 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0002376 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0002793 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0012171 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0025430 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0001250 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0001332 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0001508 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0002067 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0002353 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0002355 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0003202 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0030217 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0000713 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0001082 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0001987 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0002151 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0002360 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0002490 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0002540 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0002650 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0003542 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0008947 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0012332 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0031793 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:778 Rett syndrome HP:0011451 ORPHA:778 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0005930 ORPHA:166002 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003365 ORPHA:166002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0009826 ORPHA:166002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0012770 ORPHA:166002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0030839 ORPHA:166002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0030973 ORPHA:166002 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002515 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002758 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002812 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002815 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002857 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002970 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003028 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003045 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003946 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003999 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0004322 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0006055 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0006190 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0009189 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0010631 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0010665 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0001324 ORPHA:166002 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003198 ORPHA:166002 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0000762 ORPHA:206594 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001324 ORPHA:206594 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002922 ORPHA:206594 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003431 ORPHA:206594 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007377 ORPHA:206594 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001284 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001288 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001974 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002355 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002359 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003447 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003474 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003551 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003565 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0004302 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0006881 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007078 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007141 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007220 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007262 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0011096 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0012531 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001266 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001337 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001430 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002403 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002460 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002936 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003237 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003376 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003448 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0006376 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0006844 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007230 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0008800 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0010505 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0012078 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0032169 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002086 ORPHA:206594 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002270 ORPHA:206594 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0006824 ORPHA:206594 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0000252 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001263 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001273 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001320 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0002363 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0010663 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0012110 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0012502 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0032398 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0000486 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0000657 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001302 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0002119 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0007018 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0012547 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0031882 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0040327 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0000256 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001251 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001252 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001488 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0002121 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0012469 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:467166 Tubulinopathy-associated dysgyria HP:0020214 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000543 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000750 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000817 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001273 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001317 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001321 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001344 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001662 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002421 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002490 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002500 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002505 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0007321 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0008763 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0008872 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0009062 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0011344 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0012379 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0030890 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000028 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000194 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000252 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000762 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001250 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001260 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001324 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001347 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001511 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001998 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002013 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002058 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002059 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002061 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002079 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002151 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002307 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002353 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002509 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002521 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002650 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0003394 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0003487 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0004305 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0005745 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0006956 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0007366 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0007371 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0011448 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0011470 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0012428 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0031959 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0030051 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0000256 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0000767 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0000768 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0000774 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0001792 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0001821 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0002650 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0002652 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0002750 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0002812 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0002869 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0002970 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0002983 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0003300 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0003307 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0003367 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0004279 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0004322 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0006059 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0010306 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63446 Acrocapitofemoral dysplasia HP:0010579 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0011473 ORPHA:398063 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002028 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0001824 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002024 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0001935 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0000939 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002910 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0000707 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0011123 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0030057 ORPHA:398063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002853 ORPHA:398063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002901 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0003075 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002917 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002148 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0001891 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0001897 ORPHA:398063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0001972 ORPHA:398063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0010639 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0012052 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0025409 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002027 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0004395 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002829 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0033143 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002243 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0003073 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398063 Refractory celiac disease HP:0002665 ORPHA:398063 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0004220 ORPHA:63442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0005819 ORPHA:63442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0005930 ORPHA:63442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0010034 ORPHA:63442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0000668 ORPHA:63442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0000684 ORPHA:63442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0001385 ORPHA:63442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0004322 ORPHA:63442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0008843 ORPHA:63442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0002750 ORPHA:63442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0005692 ORPHA:63442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000028 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000789 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001249 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001270 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001319 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001371 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001999 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002033 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0008947 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0011968 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012758 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000046 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000060 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000064 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000135 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000478 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000486 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000708 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000729 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000750 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000786 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001256 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001315 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001328 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001508 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001558 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001612 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001773 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002020 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002119 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002591 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002650 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002808 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0003241 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0004322 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0004324 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0005968 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0006889 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0008197 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0008734 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0010535 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012166 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012287 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012450 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012506 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012743 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0025160 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0040288 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0100543 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0200055 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0410263 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000054 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000217 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000219 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000446 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000545 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000565 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000709 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000722 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000826 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000938 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000939 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001010 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001250 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001254 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001385 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001631 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002205 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002494 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002714 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002870 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0005599 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0005978 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0007874 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0010536 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0010829 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0011787 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012411 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0025237 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0040030 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0100710 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206599 Isolated asymptomatic elevation of creatine phosphokinase HP:0003236 ORPHA:206599 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:206599 Isolated asymptomatic elevation of creatine phosphokinase HP:0000118 ORPHA:206599 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:206599 Isolated asymptomatic elevation of creatine phosphokinase HP:0003198 ORPHA:206599 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:206599 Isolated asymptomatic elevation of creatine phosphokinase HP:0008331 ORPHA:206599 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0000952 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0001081 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0002027 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0002904 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0003155 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0011980 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0040319 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0001649 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0001733 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0001945 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0002013 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0002018 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0002039 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0002910 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0003270 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0011848 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0025143 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0410019 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0030154 ORPHA:521219 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:521219 Mirizzi syndrome HP:0100889 ORPHA:521219 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0012073 ORPHA:391417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0000529 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0000750 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0001250 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0001263 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0001328 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0002342 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0002376 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0040155 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0000365 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0000648 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0000708 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0000729 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0000736 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0001251 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0001260 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0001266 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0001288 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0001336 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0004925 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0006892 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0007042 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0008947 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0012433 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0000252 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0000639 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0001337 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0001347 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0002015 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0002063 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0002119 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0002307 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0002313 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0002579 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0007030 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0008897 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391417 HSD10 disease HP:0011470 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000709 ORPHA:96369 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000708 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000712 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000716 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000717 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000729 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000736 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000737 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000738 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000739 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000746 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0001289 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0001328 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000712 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0002332 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0002463 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0008763 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0030858 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0031466 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0031469 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0100543 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000711 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000722 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000745 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0000751 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0002039 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0002367 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0002591 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0007018 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0010865 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0011999 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0012154 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0025160 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0031354 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0031588 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0031589 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0100851 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0100962 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0008765 ORPHA:96369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0030018 ORPHA:96369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0040306 ORPHA:96369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0100754 ORPHA:96369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96369 Early-onset schizophrenia HP:0100786 ORPHA:96369 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0000011 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0000020 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0000708 ORPHA:206583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0000726 ORPHA:206583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0001249 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0001251 ORPHA:206583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0001257 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0001269 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0001288 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0001324 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0001376 ORPHA:206583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0002071 ORPHA:206583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0002839 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0002936 ORPHA:206583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0003457 ORPHA:206583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0007256 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0009830 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206583 Adult polyglucosan body disease HP:0200042 ORPHA:206583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63455 Paraneoplastic pemphigus HP:0000155 ORPHA:63455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63455 Paraneoplastic pemphigus HP:0008066 ORPHA:63455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63455 Paraneoplastic pemphigus HP:0012191 ORPHA:63455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63455 Paraneoplastic pemphigus HP:0100242 ORPHA:63455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63455 Paraneoplastic pemphigus HP:0100522 ORPHA:63455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:63455 Paraneoplastic pemphigus HP:0200041 ORPHA:63455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:63455 Paraneoplastic pemphigus HP:0200097 ORPHA:63455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000735 ORPHA:97685 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000736 ORPHA:97685 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001480 ORPHA:97685 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0007565 ORPHA:97685 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000271 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000529 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000708 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000822 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001072 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001328 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001627 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001999 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002076 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002315 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002354 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002360 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002463 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0004562 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0009732 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0009737 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0011442 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0025105 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0100585 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0200034 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0410263 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000337 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000486 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000490 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000501 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000520 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000610 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000618 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000729 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000823 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000925 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000935 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000938 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000939 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001034 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001176 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001249 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001250 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001263 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001271 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001297 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001511 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001639 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001642 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001680 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001833 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001920 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002088 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002092 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002650 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002797 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002808 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0003165 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0004322 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0004944 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0007236 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0007359 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0007524 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0007850 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0009733 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0009734 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0010795 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0010796 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0012492 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0012531 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0030692 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0031023 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0032458 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0100008 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0100697 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0100817 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0430022 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:3000062 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000316 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000369 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000465 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000494 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0000826 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0001909 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002666 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002859 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002863 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0002979 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0003001 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0003002 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0005280 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0006610 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0100252 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0100723 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:97685 17q11 microdeletion syndrome HP:0100775 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000337 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000455 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002007 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0003196 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0011800 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0012736 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0012758 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000078 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000126 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000154 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000158 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000260 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000316 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000329 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000341 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000356 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000369 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000470 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000505 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000520 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000586 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000885 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001250 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001531 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001627 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002079 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002119 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0004554 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0009882 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0011039 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000168 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000187 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000218 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000278 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000347 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000375 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000452 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000522 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000684 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000765 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000889 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001537 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001545 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001734 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001845 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002089 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002098 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002120 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002190 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002251 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002645 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002694 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002751 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002982 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0003173 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0007099 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0008610 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0008628 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0009792 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0010034 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0010464 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0010557 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0045005 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000023 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000047 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000054 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000069 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000107 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000280 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000322 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0000787 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001257 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001276 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001601 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0001605 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002015 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002521 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002650 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002667 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002884 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002888 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0002974 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0005349 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0006532 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0009748 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0011097 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0011471 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0011787 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0012324 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0012385 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0025259 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:798 Schinzel-Giedion syndrome HP:0030736 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000554 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001386 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001410 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001824 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001873 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001882 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001945 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002088 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002094 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002103 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002202 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0003011 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0011121 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0012219 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0012378 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0012735 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0100749 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0100828 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0200036 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000083 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000121 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000433 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000501 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000502 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000518 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000618 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000620 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000787 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000873 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000953 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001010 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001097 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001399 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001409 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001482 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001596 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001903 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001970 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002097 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002107 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002110 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002150 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002206 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002240 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002716 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002733 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002781 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002921 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002922 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0003072 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0003701 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0004756 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0007734 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0009830 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0010310 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0010628 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0011024 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0011675 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0011801 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0011850 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0012062 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0012243 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0012722 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0030146 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0030872 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0040186 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0100699 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0200035 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000821 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000834 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0000836 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001878 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0001880 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002045 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:797 Sarcoidosis HP:0002105 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:799 Schizencephaly HP:0000486 ORPHA:799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:799 Schizencephaly HP:0001249 ORPHA:799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:799 Schizencephaly HP:0001250 ORPHA:799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:799 Schizencephaly HP:0001257 ORPHA:799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:799 Schizencephaly HP:0001263 ORPHA:799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:799 Schizencephaly HP:0001269 ORPHA:799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:799 Schizencephaly HP:0002132 ORPHA:799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:799 Schizencephaly HP:0002353 ORPHA:799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:799 Schizencephaly HP:0002510 ORPHA:799 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:799 Schizencephaly HP:0007370 ORPHA:799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002151 ORPHA:391428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002490 ORPHA:391428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0003287 ORPHA:391428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0012379 ORPHA:391428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000618 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000750 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001250 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001252 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001263 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001942 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001943 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002059 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002180 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002376 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0003128 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0011343 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001263 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0500170 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000252 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000365 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000510 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000546 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000572 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000639 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000648 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000711 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000749 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0000961 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001260 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001264 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001266 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001285 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001332 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001344 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001639 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001640 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001987 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0001999 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002015 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002134 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002370 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002421 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002487 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002506 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002579 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0006892 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0002505 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0007030 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0010864 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0010936 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0012707 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391428 HSD10 disease, infantile type HP:0030391 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000028 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000160 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000230 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000256 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000286 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000431 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000506 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0045075 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000653 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000938 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000963 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000973 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000974 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000987 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001000 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001075 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001166 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001252 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001263 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001371 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001510 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001642 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001650 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001763 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001999 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0002209 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0002652 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0002751 ORPHA:75496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0003202 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0004322 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0005328 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0005692 ORPHA:75496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0006481 ORPHA:75496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0007469 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0009125 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0010511 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0100813 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0001388 ORPHA:750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0008873 ORPHA:750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0000926 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0001156 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0002515 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0002663 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0002758 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0002761 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0002829 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0002938 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0003016 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0003025 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0003026 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0003312 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0005720 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0006149 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0009803 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0009826 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0010582 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0020152 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0045086 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0100531 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0001377 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0001387 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0002650 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0002857 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0002970 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0003015 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0003090 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0003093 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0003180 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0003756 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0004236 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0004568 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0006460 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0006499 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0008807 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0008833 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0008839 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0009107 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0010579 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0010585 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0100864 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0003311 ORPHA:750 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:750 Pseudoachondroplasia HP:0010646 ORPHA:750 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0000023 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0000963 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0000974 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0000978 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0001537 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0002020 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0030680 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0004322 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0005692 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0100790 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000028 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000037 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000044 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000062 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000771 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000789 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000795 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000821 ORPHA:752 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0030439 ORPHA:424016 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0002025 ORPHA:424016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0002027 ORPHA:424016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0002584 ORPHA:424016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0002716 ORPHA:424016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0002896 ORPHA:424016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0010622 ORPHA:424016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0012432 ORPHA:424016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0100526 ORPHA:424016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0002035 ORPHA:424016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0100743 ORPHA:424016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424016 Adenocarcinoma of the anal canal HP:0200042 ORPHA:424016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0030438 ORPHA:424019 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002027 ORPHA:424019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002584 ORPHA:424019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002716 ORPHA:424019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0012740 ORPHA:424019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002025 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002035 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002896 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0010622 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0100526 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0100743 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0200042 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0007325 ORPHA:589618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0033049 ORPHA:589618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000252 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000473 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0001249 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0001260 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0002015 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0004322 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0012758 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0031959 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000276 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000414 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000639 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000716 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000729 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000739 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000821 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000826 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0001618 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0002425 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0004209 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0007018 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0007256 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0012048 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0031960 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0000486 ORPHA:589618 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:589618 Dystonia 28 HP:0011968 ORPHA:589618 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0010763 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0012385 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0012724 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000028 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000365 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000389 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000776 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0001385 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0001513 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0002751 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0002870 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0012393 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0200053 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000219 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000272 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000430 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000540 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000677 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000742 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000750 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0000752 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0001047 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0001508 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0001511 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0002013 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0002019 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0002205 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0002342 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0004322 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412035 13q12.3 microdeletion syndrome HP:0007328 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0006517 ORPHA:747 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0000961 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0001217 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0002087 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0002094 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0002091 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0003651 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0010876 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0012418 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0025435 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0030057 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0045051 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0012735 ORPHA:747 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0025391 ORPHA:747 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0030830 ORPHA:747 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0001824 ORPHA:747 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0001945 ORPHA:747 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0002105 ORPHA:747 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0012378 ORPHA:747 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0100749 ORPHA:747 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001284 ORPHA:746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003201 ORPHA:746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003546 ORPHA:746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001252 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001254 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001324 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001531 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001635 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001638 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001712 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001985 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002033 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002901 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003394 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003551 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003756 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0006555 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0007340 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0008872 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0009063 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0009830 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0011808 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0100626 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0000580 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0000829 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001250 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001259 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001270 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001396 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001653 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001761 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002093 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002359 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002878 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003324 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003326 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003487 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0005180 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0008110 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0008138 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0011675 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0030051 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002476 ORPHA:746 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0007067 ORPHA:746 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0007141 ORPHA:746 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0025145 ORPHA:746 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0000488 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0000963 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0000979 ORPHA:743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0001000 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0001933 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0002204 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0002625 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0004418 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0004420 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0005293 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0008065 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0100659 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0100758 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0200042 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000294 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000316 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000347 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000365 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000370 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000457 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000505 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000520 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000670 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000958 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000962 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000963 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000982 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000989 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0000992 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0001007 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0001166 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0001231 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0001249 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0001744 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0001999 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0002205 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0002211 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0002230 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0002240 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0002715 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0002857 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0003272 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0004349 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0005280 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0007473 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0007598 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0007703 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0008065 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0010669 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0010783 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0012786 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0200034 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:742 Prolidase deficiency HP:0200042 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0000963 ORPHA:745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0000979 ORPHA:745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0001000 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0001038 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0002204 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0004936 ORPHA:745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0005293 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0008065 ORPHA:745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0100659 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0100758 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000009 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000011 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000126 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000707 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000925 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000998 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0002650 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0002751 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0003396 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000020 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000047 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000075 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000085 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000238 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0001760 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0001762 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0001763 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0002308 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0002385 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0002435 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0002475 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0002607 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0003307 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0003418 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0003419 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0004696 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0008081 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0009053 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0010781 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0012514 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0025480 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0025488 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0031283 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0100711 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0100712 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0000953 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0001026 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0002144 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0002937 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0003316 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0005306 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0005857 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0009792 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0010302 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0012032 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0030725 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0100559 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0100565 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573278 Split cord malformation HP:0100702 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000040 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000256 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000268 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000276 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000311 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000324 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000520 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000567 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000873 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000995 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001000 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001072 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0005916 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001249 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001250 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001363 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001482 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001744 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002230 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002650 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002652 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002664 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002858 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0003199 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0003312 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0003715 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0004099 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0004326 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0004418 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0004490 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0005306 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0005595 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0007440 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0007703 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0010508 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0010516 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0011276 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0012032 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100006 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100026 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100521 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100526 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100555 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100559 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100560 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100615 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100730 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100761 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100764 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100774 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000053 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000107 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000316 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000369 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000400 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000463 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000464 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000486 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000494 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000501 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000508 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000518 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000545 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000557 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000670 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0000682 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001004 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001167 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001387 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001519 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001555 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001597 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001645 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0001822 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002204 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002282 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0030680 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002719 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002808 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002827 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0003019 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0004209 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0004420 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0005280 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0006101 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0002101 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0007400 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0007552 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0007565 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0007818 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0007899 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0008675 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0009594 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0009804 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0009928 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0010497 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0010566 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0010788 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0010816 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0011386 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:744 Proteus syndrome HP:0100777 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000546 ORPHA:166035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000707 ORPHA:166035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001156 ORPHA:166035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001999 ORPHA:166035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0004322 ORPHA:166035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000510 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000662 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000750 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001249 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001263 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0011968 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000023 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000028 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000085 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000107 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000347 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000369 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000400 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000430 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000494 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000512 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000561 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000818 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000957 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001123 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001319 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001363 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001511 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001596 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001629 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001763 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001792 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001822 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0002007 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0002120 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0002194 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0002223 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0002342 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0005345 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0005871 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0007099 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0008064 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0010049 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0010761 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0030148 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0030455 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0002540 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0007164 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0001249 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0001250 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0001265 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0001621 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0001761 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0002066 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0002304 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0002650 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0004305 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0007256 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0007311 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0008969 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0012378 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0012444 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0012638 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0100022 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0001336 ORPHA:391411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0002362 ORPHA:391411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0002425 ORPHA:391411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0000338 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0001332 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0002063 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0002067 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0002172 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391411 Atypical juvenile parkinsonism HP:0002322 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0000017 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0000716 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0000739 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0000873 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0001250 ORPHA:178029 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0001254 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0001262 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0001508 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0001824 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0001944 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0001945 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0001959 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0002014 ORPHA:178029 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0002017 ORPHA:178029 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0002039 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0002315 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:178029 Central diabetes insipidus HP:0002902 ORPHA:178029 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000160 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000233 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000347 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000405 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001525 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001544 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001824 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0007394 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0007485 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0008647 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0011354 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0100678 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000050 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000134 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000200 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000218 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000278 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000418 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000436 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000586 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000855 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001376 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001620 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001633 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001646 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001810 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002232 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002362 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002621 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002673 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002827 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002875 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0003292 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0004482 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0005461 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0007418 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0008391 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0008573 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0010296 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0011832 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0012569 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0025168 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0100679 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000331 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000444 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000668 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000678 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000684 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000765 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000822 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000894 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000905 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000961 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001034 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001297 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001387 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001650 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001653 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001658 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001659 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001714 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001718 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001757 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002170 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002223 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002326 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002758 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002781 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0004334 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0004349 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0004380 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0004382 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0006248 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0006335 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0006467 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0007957 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0008800 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0009839 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0009904 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0010505 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0010766 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0010885 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0011079 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0011457 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0012474 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0030002 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0030838 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0030880 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0200034 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001681 ORPHA:740 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002092 ORPHA:740 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0012804 ORPHA:740 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0025169 ORPHA:740 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000978 ORPHA:324636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0012531 ORPHA:324636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0031364 ORPHA:324636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0012378 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0025406 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002315 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0001945 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002829 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0003326 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000421 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002239 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0005261 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000790 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002170 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0033676 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0001894 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0008352 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0003645 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0001877 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0001973 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000708 ORPHA:324636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000716 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000739 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000989 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0025474 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000969 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0040064 ORPHA:324636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000271 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002321 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0410019 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002018 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002013 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002014 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000132 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000712 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0100716 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0030140 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0012233 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000707 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0008770 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0012076 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0031190 ORPHA:324636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000028 ORPHA:739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000789 ORPHA:739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001270 ORPHA:739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0004322 ORPHA:739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001252 ORPHA:739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000046 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000059 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000060 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000064 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000135 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000164 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000486 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000704 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000708 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000750 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000786 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000819 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000824 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000938 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000939 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000969 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001010 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001055 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001256 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001265 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001328 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001508 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001558 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001612 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001773 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001999 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002033 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002119 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002205 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002494 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002578 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002591 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002650 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002659 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002870 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0003241 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0005599 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0006889 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0007018 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0008734 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0010536 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0010829 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0011734 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0012506 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0012650 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0012743 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0030339 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0200055 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0410263 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000217 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000446 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000709 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000729 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000822 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001250 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001297 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001385 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002013 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0001262 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002342 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002500 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0002714 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0007874 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0011470 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0011787 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0012411 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0012412 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0031100 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:739 Prader-Willi syndrome HP:0000826 ORPHA:739 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:735 Porokeratosis of Mibelli HP:0000962 ORPHA:735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:735 Porokeratosis of Mibelli HP:0000989 ORPHA:735 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:735 Porokeratosis of Mibelli HP:0000992 ORPHA:735 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:735 Porokeratosis of Mibelli HP:0008065 ORPHA:735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:735 Porokeratosis of Mibelli HP:0200044 ORPHA:735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000252 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000819 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001249 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001518 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0003508 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0011451 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000823 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001250 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001263 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001511 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001943 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001999 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002465 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0004325 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000160 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000219 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000274 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000275 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000286 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000293 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000294 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000311 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000322 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000341 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000343 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000347 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000400 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000407 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000445 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000463 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000470 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000494 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000592 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000601 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000664 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000677 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000685 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000767 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000821 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001238 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001321 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001348 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001388 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001620 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001946 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002079 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002136 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002213 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002313 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002365 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002460 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002650 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002714 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002751 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0003196 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0007258 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0008070 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0008081 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0008850 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0008936 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0010344 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0010864 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0011308 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0012448 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0025383 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0030084 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0200021 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0000708 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0000738 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0000822 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0000989 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0000992 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0001000 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0001250 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0001324 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0001945 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0002014 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0002017 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0002019 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0002027 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0002039 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0002360 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0003401 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0005679 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0008066 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0010472 ORPHA:738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0012086 ORPHA:738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0012378 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0100021 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:738 Porphyria HP:0100749 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0000972 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0025528 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0040211 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0045059 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0100872 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0200035 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0200044 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0000989 ORPHA:737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0002814 ORPHA:737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0011354 ORPHA:737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0000091 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0000934 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001252 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001288 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001315 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001369 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001608 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001618 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001633 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001635 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001639 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001644 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001658 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001701 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001824 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0001945 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002019 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002020 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002027 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002039 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002093 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002206 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002239 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002240 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002633 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002829 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002875 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0002960 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0003002 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0003236 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0003326 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0003457 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0003701 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0004303 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0004936 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0005150 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0006530 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0011675 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0012378 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0012544 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:732 Polymyositis HP:0012735 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000105 ORPHA:731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000113 ORPHA:731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000822 ORPHA:731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001395 ORPHA:731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001405 ORPHA:731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000083 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001396 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001409 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001510 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001562 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001744 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001971 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002040 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002089 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002612 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002630 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002878 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002902 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0003774 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0004905 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0005565 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0006560 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0011040 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0011892 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0011968 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0012202 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0030948 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0100512 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0100513 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000010 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000952 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001433 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001541 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001873 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001919 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001959 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002239 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002243 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002791 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002884 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0006532 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0030151 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0100520 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000347 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000369 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000457 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001737 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002108 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0030153 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0040064 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:731 Autosomal recessive polycystic kidney disease HP:0100543 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0003003 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0005227 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0007378 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0007649 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0100245 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0200063 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0000164 ORPHA:733 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0004394 ORPHA:733 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0004783 ORPHA:733 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0100246 ORPHA:733 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0000706 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0000820 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0002895 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0006771 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0010615 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0011068 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0011069 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0100631 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0100717 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0000821 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0000853 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0001733 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0002884 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0002885 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0002888 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0002893 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0005230 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0006725 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0009592 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0010614 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0011355 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0012032 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0012126 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0030153 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0030692 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0031459 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0040274 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0100575 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0100646 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:733 Familial adenomatous polyposis HP:0200040 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0000271 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0000365 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0000407 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0000505 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0000510 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0000518 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0000639 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0000648 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0000662 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0000708 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0001250 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0001251 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0001252 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0001257 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0001263 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0001508 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0001638 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0002240 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0003323 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0004322 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0005930 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0001133 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0008064 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0008167 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0010571 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0010628 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:772 Infantile Refsum disease HP:0011675 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0000421 ORPHA:774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001048 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001081 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001250 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001394 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001399 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001635 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002092 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002138 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002204 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002326 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0007420 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100659 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100761 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0200008 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0000524 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0000646 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0000787 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0000790 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001082 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001342 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001409 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001935 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002040 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002076 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002105 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002239 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0004936 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0007763 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0011025 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100026 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100579 ORPHA:774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100585 ORPHA:774 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100784 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000083 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000458 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000478 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000488 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000496 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000504 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000505 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000508 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000518 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000529 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000568 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000639 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000662 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000958 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0001251 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0001638 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0001744 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000407 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0000616 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0001252 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0001760 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0001761 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0001765 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0001939 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0002093 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0002164 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0002376 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0002652 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0003202 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0004374 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0005930 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0007256 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0007703 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0008064 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0009830 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0010049 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0010864 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:773 Refsum disease HP:0012722 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0000716 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0000738 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0000739 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0001250 ORPHA:770 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0001645 ORPHA:770 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0001945 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0002014 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0002017 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0002039 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0002076 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0003401 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0003781 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0004372 ORPHA:770 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0007018 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0100021 ORPHA:770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0100776 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0100785 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0000708 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:770 Rabies HP:0001604 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0001945 ORPHA:324625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0002829 ORPHA:324625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0012378 ORPHA:324625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0000745 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0000988 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0001369 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0001386 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0001387 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0002315 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0003326 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0005198 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0007483 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0010741 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0010783 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0012733 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0030834 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0030839 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0040186 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0000225 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0000282 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0000421 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0000613 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0000716 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0000967 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0000989 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0000992 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0001892 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0002013 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0002014 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0007473 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0008066 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0009830 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0012219 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0025143 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0025232 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0025289 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0025337 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0032063 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0040165 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0100686 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0100769 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0200037 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0001250 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0002383 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0002716 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0002797 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0003401 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0003406 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0012185 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0030880 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324625 Chikungunya HP:0031002 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001260 ORPHA:412057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001272 ORPHA:412057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002070 ORPHA:412057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002078 ORPHA:412057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001166 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001181 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001288 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001347 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002172 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002317 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002355 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0005328 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0010831 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0012896 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000135 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000365 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000602 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000639 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000640 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000666 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001263 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001321 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002015 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002061 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002063 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002167 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002174 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002346 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002354 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002378 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0003693 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0006801 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0007371 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0011098 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0011448 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0012104 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0012110 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0100543 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000501 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000657 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000789 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000821 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000876 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001094 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001105 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001152 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001250 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001596 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001733 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001999 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002679 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0005978 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0012547 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0012569 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0100651 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0000842 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0004322 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0001744 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0004444 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0010047 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0001742 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0003758 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0004322 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0008283 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0008665 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0008850 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0011998 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0012542 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000998 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0001007 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0001249 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0001263 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0001511 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0002719 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0003162 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000040 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000164 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000678 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000831 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000855 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000956 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000958 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0030088 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0030348 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0030796 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0031452 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0100874 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0100879 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000121 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000158 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000212 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000218 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000221 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000280 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000294 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000303 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000400 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000426 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000445 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000463 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000488 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000821 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0000826 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0001629 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0001631 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0001638 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0001953 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0001959 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0002216 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0002750 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0002900 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0006288 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0007305 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0009830 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0010442 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0012686 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:769 Rabson-Mendenhall syndrome HP:0040270 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002654 ORPHA:166011 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0004586 ORPHA:166011 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0000365 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0000545 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001156 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001376 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001384 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001385 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002515 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002758 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002812 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002857 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002945 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0003170 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0003365 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0004322 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0004592 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0005054 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0005787 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0008812 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0030839 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0031955 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0100864 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0000518 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001387 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001510 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002943 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0003370 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0003419 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0003888 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0005923 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0006019 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0006508 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0010741 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0011911 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0030329 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0030672 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0031174 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0100712 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000218 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000243 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000252 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000275 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000286 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000316 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000343 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000431 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000496 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000582 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000767 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001012 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001250 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001251 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001252 ORPHA:765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001254 ORPHA:765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001257 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001260 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001263 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001266 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001288 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001332 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001337 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001510 ORPHA:765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001511 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001999 ORPHA:765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0002007 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0002094 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0002119 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0002789 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0007256 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0007370 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0008872 ORPHA:765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0100021 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:765 Pyruvate dehydrogenase deficiency HP:0100453 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0000316 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0000347 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0000455 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0000582 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0000766 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0001156 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0002650 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0002656 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0002663 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0002857 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0003038 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0003071 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0003083 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0004322 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0008905 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0010585 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0100168 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0410005 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0006380 ORPHA:166016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0006471 ORPHA:166016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0000083 ORPHA:764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0001482 ORPHA:764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0001645 ORPHA:764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0001824 ORPHA:764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0001945 ORPHA:764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0001974 ORPHA:764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0002719 ORPHA:764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0003326 ORPHA:764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0100614 ORPHA:764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0100616 ORPHA:764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0100806 ORPHA:764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:764 Pyomyositis HP:0100838 ORPHA:764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0011121 ORPHA:767 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0000077 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0001824 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0001945 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0002829 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0003326 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0009830 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0011227 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0031003 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0000707 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0000822 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0000965 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0001482 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0001701 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0002011 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0002027 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0002088 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0003390 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0010783 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0011024 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0030680 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0030880 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0200042 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0000478 ORPHA:767 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0001638 ORPHA:767 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:767 Polyarteritis nodosa HP:0002102 ORPHA:767 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001744 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001877 ORPHA:766 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001903 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001923 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0004870 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0008282 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0025109 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001789 ORPHA:766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0003281 ORPHA:766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0003452 ORPHA:766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0004804 ORPHA:766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0006579 ORPHA:766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0004447 ORPHA:766 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0011273 ORPHA:766 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0012463 ORPHA:766 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0003236 ORPHA:206559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0006785 ORPHA:206559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0030099 ORPHA:206559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0001328 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0002194 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0002355 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0003551 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0007126 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0030197 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0100543 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0001263 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0001644 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0002119 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0002540 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0003691 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0003697 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0006913 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0008981 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0011712 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0025169 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0000083 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0000093 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0000648 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0000790 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0000969 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0000978 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0000979 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0000988 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0001025 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0001250 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0001324 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0001369 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0001945 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0002017 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0002027 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0002039 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0002076 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0002091 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0002239 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0002383 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0002633 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0002829 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0003326 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0004374 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0005244 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0010783 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0011276 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0012733 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0100534 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0100665 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0100796 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0100820 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0200039 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:761 Immunoglobulin A vasculitis HP:0200042 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002843 ORPHA:760 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0011935 ORPHA:760 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0000707 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001890 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002205 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002719 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002960 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0003537 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0004430 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0005363 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0032166 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0000708 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0000752 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001249 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001251 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001252 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001257 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001263 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001276 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001888 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002313 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002664 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0011442 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0045080 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0100021 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0000407 ORPHA:760 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001297 ORPHA:760 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001973 ORPHA:760 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002725 ORPHA:760 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0001156 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002007 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0004474 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0005446 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0005906 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0008873 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0009839 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0011001 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0030353 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000164 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000270 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000327 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000347 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000444 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000448 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000520 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000592 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000824 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0001511 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0001597 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0001773 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002659 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002870 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0005789 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0008598 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0009381 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0011800 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0012532 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0200055 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000218 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000668 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000670 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000680 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000689 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000696 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000889 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0001601 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0001807 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002164 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002645 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002650 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002866 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0003027 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0003302 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0003304 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0006297 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0006335 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0008905 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0010307 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0010884 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0011342 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0025502 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0100559 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000486 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000539 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000707 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0000774 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0001388 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0001433 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002308 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002493 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002516 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0002808 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0003307 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0004440 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:763 Pycnodysostosis HP:0007266 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000750 ORPHA:436003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001270 ORPHA:436003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000162 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000175 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000347 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000396 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001166 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001167 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001385 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001762 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002870 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002974 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0003396 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0009778 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0012430 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000023 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000047 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000394 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000430 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000486 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000494 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000612 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001239 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001631 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001840 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001845 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002360 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002687 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002705 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002944 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0004969 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0007099 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0007359 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0008551 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0009929 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0025100 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0012663 ORPHA:66529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0010872 ORPHA:66529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0012251 ORPHA:66529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0100749 ORPHA:66529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0410174 ORPHA:66529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0000822 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001513 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001657 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001681 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001962 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0002013 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0002094 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0002615 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0005184 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0006698 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0008180 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0009805 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0012250 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0025077 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0031138 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001250 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001279 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001653 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001662 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001663 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001727 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0004308 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0005110 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0011675 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0030149 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0100598 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001677 ORPHA:66529 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0005145 ORPHA:66529 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0006704 ORPHA:66529 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000121 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000218 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000474 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000488 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000505 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000545 ORPHA:758 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000573 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000592 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000765 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000821 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000822 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000951 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000974 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000978 ORPHA:758 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000988 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0000989 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0001012 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0001061 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0001065 ORPHA:758 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0001102 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0001482 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0001634 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0001645 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0001681 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0001723 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0001872 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0002172 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0002239 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0002514 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0030680 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0002617 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0002621 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0002650 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0004306 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0004374 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0005692 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0007392 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0012508 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0100545 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0100585 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0100659 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:758 Pseudoxanthoma elasticum HP:0100679 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:757 Pseudohypoaldosteronism type 2 HP:0000164 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:757 Pseudohypoaldosteronism type 2 HP:0000682 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:757 Pseudohypoaldosteronism type 2 HP:0000822 ORPHA:757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:757 Pseudohypoaldosteronism type 2 HP:0001324 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:757 Pseudohypoaldosteronism type 2 HP:0001510 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:757 Pseudohypoaldosteronism type 2 HP:0002017 ORPHA:757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:757 Pseudohypoaldosteronism type 2 HP:0002153 ORPHA:757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:757 Pseudohypoaldosteronism type 2 HP:0003768 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:757 Pseudohypoaldosteronism type 2 HP:0004322 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002938 ORPHA:206546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003236 ORPHA:206546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003701 ORPHA:206546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0001435 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0001644 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0001712 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002540 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002942 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002943 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003324 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003326 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003394 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003710 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003731 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0008981 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0030097 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0001635 ORPHA:206546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002987 ORPHA:206546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002380 ORPHA:206546 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003409 ORPHA:206546 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0000008 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0000098 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0000151 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0000786 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0003251 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0008655 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0008689 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0008730 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0011969 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0012888 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0025134 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0030088 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0040314 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0000823 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0002215 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0002221 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0002225 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0002555 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0031102 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0010788 ORPHA:99429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0001061 ORPHA:99429 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0030346 ORPHA:99429 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99429 Complete androgen insensitivity syndrome HP:0100728 ORPHA:99429 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0008236 ORPHA:759 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0000837 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0001548 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0002805 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0003508 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0004324 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0009888 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0010314 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0001061 ORPHA:759 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0001513 ORPHA:759 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0002444 ORPHA:759 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0000238 ORPHA:759 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0000957 ORPHA:759 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:759 Central precocious puberty HP:0001287 ORPHA:759 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0000008 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0000023 ORPHA:754 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0000028 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0000033 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0000037 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0000130 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0000823 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0002215 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0002221 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0002225 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0002555 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0003251 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0008655 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0008684 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:754 Androgen insensitivity syndrome HP:0010788 ORPHA:754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000028 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000033 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000046 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000048 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000051 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000062 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000144 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000818 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0008736 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0100779 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:55881 Adamantinoma HP:0002653 ORPHA:55881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:55881 Adamantinoma HP:0002756 ORPHA:55881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:55881 Adamantinoma HP:0003072 ORPHA:55881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0001638 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0002913 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0002987 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003089 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003691 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0006466 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0008981 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0009129 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0010628 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0012785 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003326 ORPHA:206549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0006785 ORPHA:206549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0008994 ORPHA:206549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0009053 ORPHA:206549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0001430 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0002816 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003236 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003445 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003458 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003482 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003555 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003557 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003730 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003738 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0004303 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0007210 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0008988 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0008997 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0009050 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0012548 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0031237 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0100295 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0100297 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0001239 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0001371 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000026 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000028 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000037 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000047 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000054 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000062 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000118 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000134 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000151 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000786 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000811 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000812 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000815 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000837 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0002750 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0008187 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0008193 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0010790 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0040171 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0100783 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000030 ORPHA:755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0000869 ORPHA:755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:755 Leydig cell hypoplasia HP:0012872 ORPHA:755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000207 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000256 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000316 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000431 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000767 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000924 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0001249 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002007 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002419 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002654 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002663 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002857 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0003037 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0030084 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0031092 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0001274 ORPHA:166024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002079 ORPHA:166024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002829 ORPHA:166024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0004322 ORPHA:166024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002059 ORPHA:166024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0012725 ORPHA:166024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0003468 ORPHA:166024 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0000473 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0001336 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0001618 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002317 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002346 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002355 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002356 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002530 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0004373 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0012179 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0012893 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0200085 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002883 ORPHA:420492 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0005115 ORPHA:420492 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0025269 ORPHA:420492 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0001272 ORPHA:420492 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002120 ORPHA:420492 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000003 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000023 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000098 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000126 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000135 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000160 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000218 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000232 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000248 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000252 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000278 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000286 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000319 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000340 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000341 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000343 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000348 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000365 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000369 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000411 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000426 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000431 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000486 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000494 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000505 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000506 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000508 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000527 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0045075 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000581 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000609 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000648 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000717 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000729 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000750 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000767 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000771 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001182 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001252 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001260 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001263 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001288 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001290 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001321 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001508 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001510 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001511 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001561 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001601 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001611 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001653 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001659 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001763 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001840 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001852 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001863 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002015 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002061 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002119 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002205 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002213 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002342 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002353 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002558 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002650 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002808 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002999 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0005274 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0005487 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0006610 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0007018 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0007598 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0008734 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0010628 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0011968 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0100490 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0100625 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0000926 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0002655 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0002758 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0002983 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0003508 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0005930 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0010306 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000003 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000028 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000046 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000062 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000126 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000160 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000175 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000238 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000256 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000308 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000316 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000356 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000369 ORPHA:261344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000445 ORPHA:261344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000476 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000494 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000528 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000601 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000772 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0000776 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001166 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001177 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001274 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001321 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001539 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001561 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001629 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001643 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001770 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001789 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001800 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0001833 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0002007 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0002023 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0002119 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0005280 ORPHA:261344 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0006610 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0008386 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0008676 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0010306 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0010880 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261344 Trisomy 1q HP:0100490 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0000926 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0001508 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0001552 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002654 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003051 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003088 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003521 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0004594 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0005775 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0012771 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0000470 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0001376 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0001386 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002763 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002829 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002945 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003043 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003365 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003418 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003855 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0005086 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0008843 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0010656 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0011001 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0030839 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0100569 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0100712 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002650 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002751 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002812 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002938 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002942 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002996 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003311 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003832 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0004586 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0004637 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0006233 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0006248 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0006467 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0008812 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0009763 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0010231 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0010575 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0025131 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0025263 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0040161 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0100864 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003401 ORPHA:93284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0000175 ORPHA:93284 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0000541 ORPHA:93284 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002960 ORPHA:93284 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0012649 ORPHA:93284 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0100769 ORPHA:93284 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000085 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000212 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000218 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000252 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000286 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000293 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000340 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000341 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000343 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000347 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000365 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000414 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000463 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000482 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000494 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000508 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0000518 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001162 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001250 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001252 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001263 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001328 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001336 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001399 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001406 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001508 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001511 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001770 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001830 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001873 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0001883 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0002240 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0002308 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0002435 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0002514 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0002714 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0003196 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0004422 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0004823 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0005487 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0007759 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0008278 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0008736 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0011875 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:46059 Lathosterolosis HP:0100711 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0001250 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0001257 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0001302 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0001319 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0002119 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0002187 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0002282 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0002521 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0008936 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0010864 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0011201 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0011968 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0012469 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0012758 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0020219 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0031882 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0100952 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0000252 ORPHA:1083 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0000750 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0001263 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0002079 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0007190 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0007266 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0010864 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0025190 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0001276 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0001339 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0001347 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0001999 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0002119 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0002120 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0006891 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0001272 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0001302 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0002090 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0002126 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0007165 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0009879 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1083 Microlissencephaly HP:0032391 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000791 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001997 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0002149 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0003149 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0003240 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0012759 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000083 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000407 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000707 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001249 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001252 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001369 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0003149 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0020074 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001251 ORPHA:411543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001919 ORPHA:411543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0007178 ORPHA:411543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0009830 ORPHA:411543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000501 ORPHA:411543 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000545 ORPHA:411543 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001263 ORPHA:411543 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0002205 ORPHA:411543 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000158 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000162 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000175 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000204 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000272 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000286 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000316 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000327 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000343 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000347 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000365 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000389 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000407 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000457 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000463 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000483 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000486 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000501 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000505 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000506 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000518 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000520 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000541 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000545 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000554 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000618 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000682 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000768 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000926 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0000940 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0001083 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0001166 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0001252 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0001373 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0001519 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0001533 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0001634 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0002020 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0002205 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0002650 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0002652 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0002653 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0002758 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0002808 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0002827 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0002829 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0002857 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0003179 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0003196 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0003202 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0003312 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0003416 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0004322 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0004326 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0004327 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0004349 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0004374 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0005280 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0005692 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0005930 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0006288 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0008872 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0009804 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0010290 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0010807 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0011675 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:828 Stickler syndrome HP:0011800 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0000531 ORPHA:98969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0001939 ORPHA:98969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0007759 ORPHA:98969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0007856 ORPHA:98969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0000495 ORPHA:98969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0001141 ORPHA:98969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0100689 ORPHA:98969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0000484 ORPHA:98969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0000613 ORPHA:98969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0012155 ORPHA:98969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98969 Macular corneal dystrophy HP:0200026 ORPHA:98969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0030057 ORPHA:398124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0000951 ORPHA:398124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001392 ORPHA:398124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001871 ORPHA:398124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0000238 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0000962 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0000988 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0000992 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001036 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001644 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001678 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001873 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001875 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001903 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0002240 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0002500 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0002910 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0011675 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0012722 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0025300 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0025474 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0040186 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0000256 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001399 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001627 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001657 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001744 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001876 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001878 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001892 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001915 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0002086 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0002135 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0002652 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0011702 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398124 Neonatal lupus erythematosus HP:0001396 ORPHA:398124 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0007663 ORPHA:827 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0000493 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0000551 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0000603 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0000608 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0000610 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0000649 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0000662 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0007704 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0007722 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0007814 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0008002 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0030329 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0008059 ORPHA:827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:827 Stargardt disease HP:0030500 ORPHA:827 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0000988 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0000989 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0001287 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0001369 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0001386 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0001701 ORPHA:829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0001744 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0001945 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0001974 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0002027 ORPHA:829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0002091 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0002102 ORPHA:829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0002240 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0002829 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0002910 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0003119 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0003326 ORPHA:829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0003565 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0005528 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0008940 ORPHA:829 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0010783 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0011227 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0011897 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0012115 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0012378 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0012819 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0100773 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:829 Adult-onset Still disease HP:0100776 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0005561 ORPHA:824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0000980 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001433 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001744 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001871 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001873 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001903 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0002240 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0012143 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0012378 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0025142 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0000967 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0000979 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001409 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001876 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001892 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001894 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001945 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001974 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001977 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001978 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0002039 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0002716 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0003388 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0004420 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0004447 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0004936 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0011134 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0030157 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0031020 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0031364 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0001028 ORPHA:824 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0004326 ORPHA:824 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0004377 ORPHA:824 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0025435 ORPHA:824 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:824 Primary myelofibrosis HP:0030057 ORPHA:824 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000077 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000238 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000256 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000365 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000520 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000774 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000926 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000944 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000956 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001156 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001250 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001252 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001360 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001376 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001561 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001582 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001631 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001643 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002007 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002084 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002093 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002119 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002269 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002652 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002676 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002808 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002983 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0004322 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0005280 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0005692 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0006703 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0010306 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0010880 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0012368 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93274 Thanatophoric dysplasia type 2 HP:0100543 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0000112 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0000708 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0000726 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0000822 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0000965 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0001123 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0001250 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0001268 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0001269 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0001270 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0001324 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0001337 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0001727 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0002072 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0002076 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0002170 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0002321 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0002354 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0002376 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0002381 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0003613 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0011276 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0100545 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:820 Sneddon syndrome HP:0100576 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001269 ORPHA:444463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001744 ORPHA:444463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001878 ORPHA:444463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0002960 ORPHA:444463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001890 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001973 ORPHA:444463 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0000403 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001297 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001888 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0002716 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0002725 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0011343 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0011947 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0012115 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98962 Granular corneal dystrophy type I HP:0000531 ORPHA:98962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98962 Granular corneal dystrophy type I HP:0007881 ORPHA:98962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98962 Granular corneal dystrophy type I HP:0000495 ORPHA:98962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98962 Granular corneal dystrophy type I HP:0000505 ORPHA:98962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98962 Granular corneal dystrophy type I HP:0011493 ORPHA:98962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98962 Granular corneal dystrophy type I HP:0000613 ORPHA:98962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98962 Granular corneal dystrophy type I HP:0007663 ORPHA:98962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98962 Granular corneal dystrophy type I HP:0008039 ORPHA:98962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98962 Granular corneal dystrophy type I HP:0011495 ORPHA:98962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98962 Granular corneal dystrophy type I HP:0200026 ORPHA:98962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0005502 ORPHA:822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0000952 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0000980 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001081 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001324 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001744 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001903 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001923 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0002240 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0002904 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0004444 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0005525 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0011900 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0025548 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0100724 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001251 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001945 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001978 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0002027 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0003326 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001723 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0025143 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0040186 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001510 ORPHA:822 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0001997 ORPHA:822 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0003270 ORPHA:822 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:822 Hereditary spherocytosis HP:0200042 ORPHA:822 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98963 Granular corneal dystrophy type II HP:0000531 ORPHA:98963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98963 Granular corneal dystrophy type II HP:0007802 ORPHA:98963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98963 Granular corneal dystrophy type II HP:0011493 ORPHA:98963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98963 Granular corneal dystrophy type II HP:0000505 ORPHA:98963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98963 Granular corneal dystrophy type II HP:0007663 ORPHA:98963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98963 Granular corneal dystrophy type II HP:0007759 ORPHA:98963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98963 Granular corneal dystrophy type II HP:0008039 ORPHA:98963 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98963 Granular corneal dystrophy type II HP:0000495 ORPHA:98963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98963 Granular corneal dystrophy type II HP:0000622 ORPHA:98963 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0000481 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0000559 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0000572 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0001149 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0007957 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0011493 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0000483 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0000495 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0000613 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0008039 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0012040 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0025337 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0200026 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0007924 ORPHA:98964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0008511 ORPHA:98964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0011003 ORPHA:98964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98964 Lattice corneal dystrophy type I HP:0012155 ORPHA:98964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000098 ORPHA:821 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000280 ORPHA:821 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0012771 ORPHA:821 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000268 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000275 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000276 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000365 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000389 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000483 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000494 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000708 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001250 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001252 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001256 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001263 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001388 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002019 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002650 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0004768 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0005616 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0006579 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0011220 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0011968 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0031284 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0040194 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0400000 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0410263 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000076 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000077 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000083 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000164 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000256 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000718 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000729 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000739 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001176 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001320 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001337 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001371 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001627 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001629 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001631 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001643 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001763 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002020 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002059 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002069 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002119 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002121 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002123 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002280 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002342 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002370 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002384 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002389 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002442 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002808 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0004942 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0007370 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0010741 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0010864 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000023 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000028 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000034 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000047 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000073 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000074 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000104 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000126 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000144 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000405 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000486 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000518 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000540 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000545 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000639 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000668 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000696 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000767 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000821 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0000953 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001010 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001028 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001363 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001537 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001741 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001762 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001792 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0001998 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002251 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0002664 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0003006 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0003072 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0003273 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0003468 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0004691 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0005617 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0006466 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0006721 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0007018 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0008498 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0009592 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0009797 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0010957 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0030357 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0030736 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:821 Sotos syndrome HP:0032447 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000028 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000122 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000158 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000218 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000238 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000252 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000256 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000280 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000286 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000303 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000316 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000319 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000322 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000325 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000337 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000343 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000347 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000369 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000411 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000414 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000445 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000457 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000465 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000486 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000490 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000494 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000582 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000588 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000960 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001182 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001249 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001250 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001252 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001260 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001263 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001618 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001629 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001643 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001704 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001770 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001800 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001836 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0002007 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0002023 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0002162 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0002463 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0002650 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0004422 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0005180 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0007018 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0009738 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0009795 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0011039 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0012471 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0100022 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0100490 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0100540 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0007881 ORPHA:98960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0007924 ORPHA:98960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0008039 ORPHA:98960 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0000495 ORPHA:98960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0000613 ORPHA:98960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0007759 ORPHA:98960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0032148 ORPHA:98960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0200026 ORPHA:98960 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0000483 ORPHA:98960 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000028 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000062 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000089 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000107 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000126 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000204 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000256 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000286 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000343 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000347 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000445 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000518 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000773 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000774 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000944 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001162 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001177 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001274 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001305 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001321 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001539 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001773 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001789 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002006 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002007 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002023 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002032 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002089 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002093 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002119 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0030680 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002612 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002983 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0003270 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0003762 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0004279 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0004397 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0004599 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0005280 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0005716 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0008716 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0008736 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0008873 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0009106 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0010297 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0010306 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0010564 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0000028 ORPHA:1074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0000175 ORPHA:1074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0009755 ORPHA:1074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0009804 ORPHA:1074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0100335 ORPHA:1074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0000175 ORPHA:1072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0009755 ORPHA:1072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0009775 ORPHA:1072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0100267 ORPHA:1072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0100335 ORPHA:1072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000175 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000176 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000347 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000405 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000411 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000431 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0045075 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000653 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000668 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000682 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000684 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000687 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000698 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000966 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000982 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0008070 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001092 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001608 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001629 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001795 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001810 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001812 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0002208 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0002558 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0004209 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0006101 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0007440 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0008391 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0009755 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0011819 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0100335 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000010 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000023 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000160 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000175 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000219 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000252 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000272 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000276 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000307 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000319 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000324 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000363 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000407 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000426 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000430 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000453 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000490 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000581 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000657 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000716 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000722 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001166 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001249 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001250 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001263 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001510 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001511 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001622 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001629 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001631 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001659 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001660 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001763 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001770 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001802 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001817 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001852 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002021 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002205 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002463 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002553 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002607 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002664 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002673 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002705 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002721 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0003307 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0004209 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0004279 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0004322 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0004942 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0005692 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0006487 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0007018 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0009465 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0009795 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0009882 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0010296 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0100033 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0100490 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0005916 ORPHA:1078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0001172 ORPHA:1078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0001249 ORPHA:1078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0001387 ORPHA:1078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0001513 ORPHA:1078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0009370 ORPHA:1078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0000252 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0000488 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0000545 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0000608 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0000613 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0000682 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0000958 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0000962 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0001025 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0001249 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0001250 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0001252 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0001257 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0001260 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0001264 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0001387 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0002167 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0002650 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0002652 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0002808 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0004322 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0007256 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0007440 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0007703 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0008064 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0010783 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0100533 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:816 Sjögren-Larsson syndrome HP:0200020 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1077 Dental ankylosis HP:0000303 ORPHA:1077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1077 Dental ankylosis HP:0000682 ORPHA:1077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1077 Dental ankylosis HP:0004209 ORPHA:1077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1077 Dental ankylosis HP:0009804 ORPHA:1077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000069 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000175 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000194 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000204 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000248 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000252 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000303 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000316 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000322 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000337 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000347 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000389 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000405 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000431 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000463 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000482 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000486 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000490 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000541 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000545 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000582 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000664 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000679 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000680 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000733 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000739 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000750 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000821 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000823 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0000826 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001156 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001161 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001249 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001250 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001252 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001263 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001265 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001288 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001387 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001513 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001531 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001558 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001609 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001763 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0001770 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0002007 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0002019 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0002020 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0002119 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0002155 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0002167 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0002353 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0002360 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0030680 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0002650 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0003124 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0003196 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0003312 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0004209 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0004322 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0005280 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0005607 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0007016 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0007018 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0007328 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0007370 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0008678 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0008872 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0009830 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0010780 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0010804 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0011800 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0100542 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0100716 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:819 Smith-Magenis syndrome HP:0100729 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0002149 ORPHA:411536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0003149 ORPHA:411536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0003240 ORPHA:411536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0003149 ORPHA:411536 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0000791 ORPHA:411536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0001369 ORPHA:411536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0020074 ORPHA:411536 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0000083 ORPHA:411536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0001919 ORPHA:411536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0012626 ORPHA:411536 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0000707 ORPHA:411536 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0000407 ORPHA:411536 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0000478 ORPHA:411536 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0001249 ORPHA:411536 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0001999 ORPHA:411536 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0009830 ORPHA:411536 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000003 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000028 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000047 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008665 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000062 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000074 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000126 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000154 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000171 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000175 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000212 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000252 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000286 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000316 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000343 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000347 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000368 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000407 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000431 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000453 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000463 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000470 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000486 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000494 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000499 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000501 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000508 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000518 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000520 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000582 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000612 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000639 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000647 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000648 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000682 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000717 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000772 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000776 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000965 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000992 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000996 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001156 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001162 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0005916 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001171 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001249 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001250 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001252 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001262 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001263 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001276 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001360 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001510 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001511 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001543 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001561 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001600 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001629 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001631 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001643 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001830 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001884 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002020 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002021 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002089 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002101 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002119 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002251 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002360 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0030680 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002650 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002719 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002777 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002808 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002827 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0003027 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0003312 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0004322 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0004422 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0004691 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0005264 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0005599 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006101 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006288 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006482 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006501 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006610 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006695 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0007018 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0007360 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0007370 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0007477 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008056 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008678 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008736 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008872 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008905 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0009465 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0009623 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0009804 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0010297 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0010569 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0010880 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0011069 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0100542 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:818 Smith-Lemli-Opitz syndrome HP:0100716 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000325 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000369 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000592 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0001511 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0004322 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0004326 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0004482 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0008897 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0011220 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0011968 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000028 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000032 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000233 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000270 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000347 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000368 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000678 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000855 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0001270 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0001531 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0001620 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0001622 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0001988 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0002019 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0002020 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0002360 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0002714 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0002750 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0002829 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0003199 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0004209 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0008364 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0008734 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0010782 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0011844 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0012412 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0100555 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0100559 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0100560 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000047 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000079 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000142 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000729 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000826 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000957 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0000975 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0001256 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0001513 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0001626 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0001852 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0002650 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0005484 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:813 Silver-Russell syndrome HP:0008935 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000179 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000280 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000407 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000431 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000488 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000505 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000518 ORPHA:812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000529 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000639 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000762 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000768 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000943 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0000962 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0001249 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0001250 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0001251 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0001252 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0001288 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0001324 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0001336 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0001337 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0001350 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0001744 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0002007 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0002167 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0002353 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0002650 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0002652 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0002750 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0002808 ORPHA:812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0003202 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0003312 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0003355 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0003461 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0004322 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0007957 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0010306 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0010729 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0011276 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0012061 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0100022 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:812 Sialidosis type 1 HP:0100790 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0000473 ORPHA:420485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0000643 ORPHA:420485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0002451 ORPHA:420485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0007351 ORPHA:420485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0012477 ORPHA:420485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0001336 ORPHA:420485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0001600 ORPHA:420485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0002378 ORPHA:420485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0012048 ORPHA:420485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000062 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000239 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000316 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000322 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000347 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000369 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000431 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000470 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000518 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000568 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000772 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000774 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000889 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000926 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000944 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0001274 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0001539 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0001629 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0002007 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0002676 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0002691 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0002714 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0004331 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0005930 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0006487 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0008905 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0009623 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000924 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001738 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001871 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001875 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001903 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002630 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0011024 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000708 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001508 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001510 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001873 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001897 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001972 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002570 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002594 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002750 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002863 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0004322 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0004395 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0004905 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0005518 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0011892 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0012202 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0040238 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0100512 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0100513 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0410252 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0410255 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0410289 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000246 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000670 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000729 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000736 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000886 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000938 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000988 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001249 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001367 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001627 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001876 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001882 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001909 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001915 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002090 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002718 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002953 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0003016 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0003025 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0004429 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0004808 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0005528 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0005871 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0045027 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000155 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000356 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000365 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000684 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000819 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000824 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0000964 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0001167 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002240 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002721 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002754 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0002910 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0006461 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0008064 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0040075 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:811 Shwachman-Diamond syndrome HP:0100806 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001945 ORPHA:810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0002027 ORPHA:810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0025086 ORPHA:810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0032155 ORPHA:810 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001944 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001974 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0002013 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0002018 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0002039 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0003111 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0012378 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0012702 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0025406 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001531 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001943 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0002373 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0002590 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0002721 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0002902 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0025085 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0025615 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0031274 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0100279 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0100282 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0000509 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0000554 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0000979 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001025 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001369 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001396 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001399 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001873 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001919 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0001937 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0002090 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0002586 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0003201 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0005575 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0009830 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0012804 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0012819 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0025059 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0031368 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0031864 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0100806 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:810 Shigellosis HP:0500006 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:851 Paris-Trousseau thrombocytopenia HP:0001249 ORPHA:851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:851 Paris-Trousseau thrombocytopenia HP:0001626 ORPHA:851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0000028 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0000046 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0000062 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0000602 ORPHA:168593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001265 ORPHA:168593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001336 ORPHA:168593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001510 ORPHA:168593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001522 ORPHA:168593 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001608 ORPHA:168593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001695 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0002020 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0002045 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0012332 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0002793 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0008736 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0010535 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0011675 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030057 ORPHA:562639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0032220 ORPHA:562639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0000989 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0002910 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0003237 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0003493 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0011040 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0012378 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0100889 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0001394 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0001396 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0002037 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0002611 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0002829 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0002904 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0003155 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0003262 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0003496 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0025344 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030167 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030909 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030948 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030988 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030991 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0032252 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0100279 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030908 ORPHA:562639 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000174 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000238 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000248 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000262 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000272 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000316 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000327 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000348 ORPHA:93262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000405 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000444 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000453 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000486 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000505 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000508 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000520 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000648 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000956 ORPHA:93262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0001156 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0005916 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0002007 ORPHA:93262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0002076 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0002093 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0002308 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0002516 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0003312 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0005107 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0007360 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0100533 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000076 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000085 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000126 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000175 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000218 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000244 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000316 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000348 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000365 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000369 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000402 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000453 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000520 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0000646 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0001249 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0001250 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0001376 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0001601 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0001770 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0001773 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0002023 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0002098 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0002308 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0002410 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0002516 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0002566 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0002779 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0003196 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0005280 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0006101 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0008080 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0010059 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0010109 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0011304 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0011800 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93260 Pfeiffer syndrome type 3 HP:0200055 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001873 ORPHA:261323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000252 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000280 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000414 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000708 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001156 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001249 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001250 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001344 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001531 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001792 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001999 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0004322 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0006979 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0008872 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0008897 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0011344 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0012385 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0030084 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000179 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000219 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000311 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000316 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000319 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000369 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000403 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000463 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000486 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000494 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000678 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000752 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000958 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000960 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001106 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001274 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001631 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001903 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0002307 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0002465 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0002557 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0002714 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0002750 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0003086 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0003763 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0007874 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0008404 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0008551 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0008947 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0009226 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0009597 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0010230 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0011800 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0012172 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0012471 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0012745 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0030215 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0030799 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0100703 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0100716 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001290 ORPHA:2394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0002013 ORPHA:2394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0002151 ORPHA:2394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0003128 ORPHA:2394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0012758 ORPHA:2394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001250 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001254 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001257 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001943 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0002240 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0002480 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0002910 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0008344 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0011968 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0012402 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0100724 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0000252 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0000708 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001251 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001399 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001508 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001638 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001987 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0003234 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0003394 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0007663 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0010913 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0030872 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0000975 ORPHA:1063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0001903 ORPHA:1063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0011355 ORPHA:1063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0000329 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0000565 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0000967 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0000979 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0000998 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0001873 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0003401 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0005548 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0008069 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0010990 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0011900 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0012531 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1063 Tufted angioma HP:0031490 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1062 Hereditary neurocutaneous malformation HP:0000707 ORPHA:1062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1062 Hereditary neurocutaneous malformation HP:0001028 ORPHA:1062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1062 Hereditary neurocutaneous malformation HP:0001250 ORPHA:1062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1062 Hereditary neurocutaneous malformation HP:0002277 ORPHA:1062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1069 Aniridia-absent patella syndrome HP:0000023 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1069 Aniridia-absent patella syndrome HP:0000028 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1069 Aniridia-absent patella syndrome HP:0000501 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1069 Aniridia-absent patella syndrome HP:0000508 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1069 Aniridia-absent patella syndrome HP:0000518 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1069 Aniridia-absent patella syndrome HP:0000526 ORPHA:1069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1069 Aniridia-absent patella syndrome HP:0001252 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1069 Aniridia-absent patella syndrome HP:0006498 ORPHA:1069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1068 Aniridia-intellectual disability syndrome HP:0000518 ORPHA:1068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1068 Aniridia-intellectual disability syndrome HP:0000526 ORPHA:1068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1068 Aniridia-intellectual disability syndrome HP:0000609 ORPHA:1068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1068 Aniridia-intellectual disability syndrome HP:0001083 ORPHA:1068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1068 Aniridia-intellectual disability syndrome HP:0002342 ORPHA:1068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000506 ORPHA:2399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000589 ORPHA:2399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0001012 ORPHA:2399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000252 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000268 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000316 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000327 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000337 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000349 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000369 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000437 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000445 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000499 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000518 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000568 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000577 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0002788 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0007820 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0007957 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0008850 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0009926 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0030670 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0030953 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0031111 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0040164 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0045075 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000378 ORPHA:2399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0004209 ORPHA:2399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0007633 ORPHA:2399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:3000022 ORPHA:2399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0002011 ORPHA:2399 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2398 Multiple symmetric lipomatosis HP:0000855 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2398 Multiple symmetric lipomatosis HP:0001012 ORPHA:2398 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2398 Multiple symmetric lipomatosis HP:0001288 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2398 Multiple symmetric lipomatosis HP:0001315 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2398 Multiple symmetric lipomatosis HP:0001387 ORPHA:2398 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2398 Multiple symmetric lipomatosis HP:0002240 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2398 Multiple symmetric lipomatosis HP:0002829 ORPHA:2398 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2398 Multiple symmetric lipomatosis HP:0003401 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2398 Multiple symmetric lipomatosis HP:0009124 ORPHA:2398 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2398 Multiple symmetric lipomatosis HP:0009830 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0000505 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0000508 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0000518 ORPHA:1067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0000545 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0001249 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0001596 ORPHA:1067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0001627 ORPHA:1067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0005599 ORPHA:1067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0007957 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0008053 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0009917 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000028 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000083 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000122 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000135 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000717 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000962 ORPHA:281090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000966 ORPHA:281090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0001249 ORPHA:281090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0001250 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0001263 ORPHA:281090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0001339 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0002381 ORPHA:281090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0002488 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0002577 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0004298 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0004322 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0007018 ORPHA:281090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0007957 ORPHA:281090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0008064 ORPHA:281090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0010866 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0100617 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0003010 ORPHA:849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0004406 ORPHA:849 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0000225 ORPHA:849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0000978 ORPHA:849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0004846 ORPHA:849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0030137 ORPHA:849 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0000132 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0000979 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0002239 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0007420 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0012587 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0031364 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0400008 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0011871 ORPHA:849 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0004866 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0008148 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0011870 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0011872 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0011894 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:849 Glanzmann thrombasthenia HP:0031128 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0000298 ORPHA:1065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0000364 ORPHA:1065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0000526 ORPHA:1065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0001249 ORPHA:1065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0001251 ORPHA:1065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0001252 ORPHA:1065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0001263 ORPHA:1065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0002167 ORPHA:1065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0002168 ORPHA:1065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0004414 ORPHA:1065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0100022 ORPHA:1065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000488 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000991 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001012 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001249 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001250 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001263 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001482 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001596 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0009125 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0012759 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000256 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000271 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000492 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000499 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000612 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000614 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000708 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000929 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001052 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001257 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001274 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001276 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001331 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001704 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002059 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002063 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002092 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002119 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002120 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002167 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002300 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002381 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002381 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002514 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002797 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0003552 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0004493 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0005306 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0007957 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0010529 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0010622 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0012062 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0012157 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0100761 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000943 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001269 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001650 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001679 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001680 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002301 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002445 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002652 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002763 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0003470 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0011611 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0040188 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000122 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000347 ORPHA:1064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000463 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000486 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000506 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0001087 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0001252 ORPHA:1064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0001334 ORPHA:1064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0001363 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0002007 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0002714 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0004322 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0005280 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0007957 ORPHA:1064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0011342 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000526 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0000952 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0001081 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0001744 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0001789 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0001878 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0001903 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0001935 ORPHA:846 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0001971 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0002863 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0010978 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0011902 ORPHA:846 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:846 Alpha-thalassemia HP:0100543 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001324 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002191 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0003202 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0003495 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0010969 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0012379 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000505 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000708 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000736 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001260 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001288 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001347 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002015 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002171 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002172 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002311 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002312 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002359 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002376 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002380 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002460 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0003394 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0003551 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0007010 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0007103 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0007340 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0009050 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0010729 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0011951 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0012696 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000496 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000618 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000648 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000709 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000716 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000739 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001250 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001272 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001290 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001310 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001332 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001336 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001337 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001344 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001377 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002119 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002267 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002283 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002307 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002354 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002384 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0002540 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0003066 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0004302 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0004481 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0008959 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0009088 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0011147 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0011448 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0011471 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0012049 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0012515 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0100754 ORPHA:845 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000365 ORPHA:845 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0000826 ORPHA:845 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0003333 ORPHA:845 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0025013 ORPHA:845 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0031358 ORPHA:845 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:845 Tay-Sachs disease HP:0001433 ORPHA:845 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0000924 ORPHA:848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0000980 ORPHA:848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0001744 ORPHA:848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0001903 ORPHA:848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0001935 ORPHA:848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0011902 ORPHA:848 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0000044 ORPHA:848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0000737 ORPHA:848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0000929 ORPHA:848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0001324 ORPHA:848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0002093 ORPHA:848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0002240 ORPHA:848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0004349 ORPHA:848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0004370 ORPHA:848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0011031 ORPHA:848 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0001081 ORPHA:848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0001639 ORPHA:848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0001873 ORPHA:848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0004936 ORPHA:848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0012115 ORPHA:848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:848 Beta-thalassemia HP:0200042 ORPHA:848 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000010 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000028 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000037 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000062 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000077 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000126 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000158 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000164 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000179 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000232 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000252 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000271 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000286 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000316 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000407 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000457 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000463 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000506 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000545 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000618 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000648 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000708 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000716 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000717 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001156 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001249 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001250 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001252 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001258 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001274 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001371 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001387 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001522 ORPHA:847 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001762 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001903 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002017 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002019 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002020 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002120 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002251 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002381 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002383 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002580 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0004209 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0004322 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0008736 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0008872 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0010461 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0010804 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0010806 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0011328 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0011800 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0011902 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0012368 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0012736 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0100022 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0100716 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0000218 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0000248 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0000316 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0000348 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0000365 ORPHA:93258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0000369 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0000520 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0001770 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0001773 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0002410 ORPHA:93258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0003196 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0004279 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0005280 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0006101 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0008080 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0009601 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0010059 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0010109 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0011304 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0011318 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93258 Pfeiffer syndrome type 1 HP:0011800 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:841 Sebocystomatosis HP:0000787 ORPHA:841 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:841 Sebocystomatosis HP:0009720 ORPHA:841 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:841 Sebocystomatosis HP:0012035 ORPHA:841 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000175 ORPHA:93259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000218 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000238 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000272 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000316 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000348 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000369 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000413 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000453 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000520 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0000572 ORPHA:93259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0001249 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0001250 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0001263 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0001376 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0001601 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0001770 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0001773 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0002023 ORPHA:93259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0002098 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0002308 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0002410 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0002516 ORPHA:93259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0002566 ORPHA:93259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0002676 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0002779 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0003196 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0005280 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0006101 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0008080 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0009603 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0010059 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0010109 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0011304 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93259 Pfeiffer syndrome type 2 HP:0200055 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000023 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000028 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000047 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000053 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000069 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000077 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000126 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000164 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000174 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000232 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000233 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000248 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000268 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000286 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000293 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000294 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000311 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000316 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000319 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000322 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000347 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000368 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000400 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000411 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000463 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000470 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000486 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000494 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000574 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000581 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000582 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000691 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0000926 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0001156 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0001177 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0001252 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0001288 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0001357 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0001537 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0001760 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0001883 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0001999 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002007 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002162 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002167 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002208 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0012332 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002311 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002414 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002553 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0030680 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002650 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002714 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002808 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0002916 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0003196 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0003272 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0003312 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0003422 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0004349 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0004397 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0005562 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0005692 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0006101 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0006610 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0009738 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0100490 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0100542 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0100543 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0100790 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261318 Trisomy 20p HP:0100874 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000716 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000722 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000726 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000739 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000802 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000821 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000822 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001251 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001260 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001265 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001288 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001300 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001310 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001324 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002015 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002063 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002066 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002067 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002080 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002120 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002354 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002363 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0012332 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002607 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002615 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002839 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0003326 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0009830 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0012534 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0030216 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0100275 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0100515 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:840 Syringocystadenoma papilliferum HP:0001482 ORPHA:840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:840 Syringocystadenoma papilliferum HP:0002209 ORPHA:840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:840 Syringocystadenoma papilliferum HP:0008066 ORPHA:840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:840 Syringocystadenoma papilliferum HP:0010815 ORPHA:840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:840 Syringocystadenoma papilliferum HP:0200034 ORPHA:840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000750 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001249 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001252 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001510 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001518 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0002813 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0012520 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0012758 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000368 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000494 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000582 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001250 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001531 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0006385 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000047 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000233 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000286 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000297 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000316 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000319 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000325 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000341 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000414 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000460 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000520 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000729 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0000960 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001182 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001562 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001631 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001713 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001762 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001763 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0001822 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0002079 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0002188 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0002553 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0002573 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0002827 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0006709 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0009899 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0012304 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261311 20q13.33 microdeletion syndrome HP:0012858 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0010785 ORPHA:180229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0030061 ORPHA:180229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0030338 ORPHA:180229 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0002027 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0002585 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0005107 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0006254 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0012288 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0031500 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0040231 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0045026 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0000053 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0000818 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0000858 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0001945 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0003144 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0003270 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0008236 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:180229 Polyembryoma HP:0030088 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000003 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000062 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000175 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000252 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000286 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000325 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000340 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000347 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000348 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000365 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000368 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000445 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000457 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000478 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000494 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000501 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000504 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000518 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000568 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000821 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000924 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000929 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001000 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001249 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001250 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001252 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001263 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001305 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001360 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001510 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001511 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001541 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001561 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001631 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001659 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001679 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001680 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001682 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002007 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002101 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002104 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002119 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002247 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0030680 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002664 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002667 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002797 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002817 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002859 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002863 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0003003 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0003560 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0004209 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0004322 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0006721 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0007360 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0007370 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0007565 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0007957 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0010880 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0010978 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0012126 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0100650 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0200008 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0001249 ORPHA:2382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0001298 ORPHA:2382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0011195 ORPHA:2382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0000708 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0000718 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0000729 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0000752 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0001268 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0001336 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0002069 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0002353 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0002363 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0002527 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0007270 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0010818 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0010819 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0012075 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0002123 ORPHA:2382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2382 Lennox-Gastaut syndrome HP:0007359 ORPHA:2382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000309 ORPHA:1051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0012155 ORPHA:1051 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000283 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000316 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000491 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000579 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000582 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0001249 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0001525 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0001643 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0002007 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0002194 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0002251 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0003510 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0004325 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0005280 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0007663 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0007980 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0008619 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0011120 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0011220 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0012332 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0030491 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000160 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000217 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000343 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000452 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000463 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000533 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000620 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000670 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0000742 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0001631 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0002098 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0002209 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0004411 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0006979 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0008872 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0009890 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0010298 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0010782 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0011451 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0012450 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0012537 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0012804 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1051 Ramos-Arroyo syndrome HP:0045025 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2380 Legg-Calvé-Perthes disease HP:0000164 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2380 Legg-Calvé-Perthes disease HP:0001373 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2380 Legg-Calvé-Perthes disease HP:0002750 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2380 Legg-Calvé-Perthes disease HP:0002829 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2380 Legg-Calvé-Perthes disease HP:0003202 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2380 Legg-Calvé-Perthes disease HP:0004322 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2380 Legg-Calvé-Perthes disease HP:0010885 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2380 Legg-Calvé-Perthes disease HP:0100773 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0000988 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0001048 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0001482 ORPHA:1059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0001928 ORPHA:1059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0001935 ORPHA:1059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0002580 ORPHA:1059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0002584 ORPHA:1059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0002597 ORPHA:1059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0002653 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0003010 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0005244 ORPHA:1059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0100026 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1059 Blue rubber bleb nevus HP:0100761 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002072 ORPHA:2388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0004305 ORPHA:2388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000708 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001250 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001300 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001315 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001927 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002275 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002340 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002451 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002460 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002495 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002527 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0003198 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0003236 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0003438 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0003445 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0003477 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0003693 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0006956 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0007078 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0012049 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0025402 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0030272 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0100034 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0100035 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0100295 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000496 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000514 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000643 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000712 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000716 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000718 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000722 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000736 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000737 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000739 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000741 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0000752 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001260 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001268 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001276 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001350 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001369 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001744 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001824 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002015 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002067 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002069 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002120 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002240 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002322 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002487 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002505 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002599 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0003380 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0003763 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0004302 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0006913 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0008110 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0008767 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0009049 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0010808 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0011999 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0012048 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0012167 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0012168 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0012479 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0012697 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0025100 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0025331 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0025479 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0025517 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0030220 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0031008 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0031843 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0031908 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0031982 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0100716 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0001644 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0002360 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0012332 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0012675 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0025435 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0031956 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2388 Choreoacanthocytosis HP:0031964 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2387 Leukonychia totalis HP:0000498 ORPHA:2387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2387 Leukonychia totalis HP:0000499 ORPHA:2387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2387 Leukonychia totalis HP:0000613 ORPHA:2387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2387 Leukonychia totalis HP:0000787 ORPHA:2387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2387 Leukonychia totalis HP:0001231 ORPHA:2387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2387 Leukonychia totalis HP:0005978 ORPHA:2387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2387 Leukonychia totalis HP:0008388 ORPHA:2387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2387 Leukonychia totalis HP:0009720 ORPHA:2387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:839 Congenital nephrotic syndrome, Finnish type HP:0000091 ORPHA:839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:839 Congenital nephrotic syndrome, Finnish type HP:0000093 ORPHA:839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:839 Congenital nephrotic syndrome, Finnish type HP:0000100 ORPHA:839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:839 Congenital nephrotic syndrome, Finnish type HP:0000696 ORPHA:839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:839 Congenital nephrotic syndrome, Finnish type HP:0004639 ORPHA:839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1055 Congenital left ventricular aneurysm HP:0001711 ORPHA:1055 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1055 Congenital left ventricular aneurysm HP:0001635 ORPHA:1055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1055 Congenital left ventricular aneurysm HP:0002104 ORPHA:1055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1055 Congenital left ventricular aneurysm HP:0005135 ORPHA:1055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1055 Congenital left ventricular aneurysm HP:0011675 ORPHA:1055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1055 Congenital left ventricular aneurysm HP:0012249 ORPHA:1055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0000972 ORPHA:2386 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0001276 ORPHA:2386 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0002317 ORPHA:2386 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0100543 ORPHA:2386 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0000726 ORPHA:2386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0002200 ORPHA:2386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0002273 ORPHA:2386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0010845 ORPHA:2386 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0001324 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0001350 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0002312 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0030051 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0100252 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0200034 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0002079 ORPHA:2386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0003380 ORPHA:2386 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0002315 ORPHA:838 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0000407 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0000572 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0001273 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0001289 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0001290 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0100543 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0000360 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0000496 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0000651 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0000708 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0000709 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0000741 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0000751 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0001254 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0001260 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0001324 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0002017 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0002066 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0002321 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0002493 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0003474 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:838 Susac syndrome HP:0100851 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0011645 ORPHA:1054 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0001659 ORPHA:1054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0002094 ORPHA:1054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0030148 ORPHA:1054 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0000969 ORPHA:1054 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0001635 ORPHA:1054 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0012735 ORPHA:1054 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0001297 ORPHA:1054 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0006689 ORPHA:1054 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0100520 ORPHA:1054 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1054 Aneurysm of sinus of Valsalva HP:0100749 ORPHA:1054 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1053 Vein of Galen aneurysmal malformation HP:0002617 ORPHA:1053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1053 Vein of Galen aneurysmal malformation HP:0100659 ORPHA:1053 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1053 Vein of Galen aneurysmal malformation HP:0100784 ORPHA:1053 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0003005 ORPHA:251992 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0000834 ORPHA:251992 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0005220 ORPHA:251992 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0045026 ORPHA:251992 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0200063 ORPHA:251992 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0000822 ORPHA:251992 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0002574 ORPHA:251992 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0004390 ORPHA:251992 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0005249 ORPHA:251992 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0100631 ORPHA:251992 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0000315 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0002034 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0002239 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0003330 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0007110 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251992 Ganglioneuroma HP:0008775 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0000093 ORPHA:834 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0000100 ORPHA:834 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0000639 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0000657 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001000 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001249 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001250 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001251 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001252 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001257 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001260 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001263 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001288 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001531 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001541 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001744 ORPHA:834 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001760 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001789 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0001999 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0002167 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0002205 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0002240 ORPHA:834 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0002305 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0002652 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0002817 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0004349 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0007256 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0007730 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0010318 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:834 Free sialic acid storage disease HP:0200042 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0000716 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0000739 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0000741 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0001300 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002019 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002063 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002067 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002172 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002310 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002322 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002359 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0012332 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002494 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002530 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0004926 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0005341 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0007256 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0008652 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0010307 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0010536 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0012658 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0012670 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0030015 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0030880 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0000640 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0001260 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002066 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002073 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002174 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0100595 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0000751 ORPHA:98934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0100022 ORPHA:98934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0000708 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0000726 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0001288 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0001300 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0001332 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0001347 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0001824 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0002060 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0002072 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0002120 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0002340 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0002354 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0002476 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0004302 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0004305 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98934 Huntington disease-like 2 HP:0010994 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000252 ORPHA:833 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000293 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000343 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000490 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000545 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0001083 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0001250 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0001251 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0001257 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0001285 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0002017 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0002376 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0002793 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0003196 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0003355 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0004374 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0008872 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0010864 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0011220 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0012471 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0100022 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000233 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000252 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000316 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000322 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000347 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000348 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000400 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000414 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000431 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000490 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000963 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001010 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001252 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001256 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001508 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001511 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001562 ORPHA:261304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0002098 ORPHA:261304 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0008070 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0010781 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0011343 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0011968 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0100578 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0100840 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0002355 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0002460 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0002515 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0003391 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0003701 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0005853 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0008944 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001265 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001270 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001347 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001371 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001385 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001558 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0003307 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0005109 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0003547 ORPHA:363454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0030237 ORPHA:363454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0000464 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0001518 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0001541 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0001790 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0005268 ORPHA:1041 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0030005 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0032548 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0000077 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0001004 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0001561 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0001698 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0001871 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0002202 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0007430 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0030680 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0032169 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0000079 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0001627 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0002652 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0002664 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0011024 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0011675 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0031110 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1041 Hydrops fetalis HP:0100763 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1040 Metaphyseal anadysplasia HP:0000944 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1040 Metaphyseal anadysplasia HP:0001387 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1040 Metaphyseal anadysplasia HP:0002814 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1040 Metaphyseal anadysplasia HP:0040071 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1040 Metaphyseal anadysplasia HP:0004039 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1040 Metaphyseal anadysplasia HP:0004322 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1040 Metaphyseal anadysplasia HP:0005930 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1040 Metaphyseal anadysplasia HP:0006487 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1040 Metaphyseal anadysplasia HP:0006501 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000160 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000233 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000368 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000486 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000520 ORPHA:2370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000944 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0001156 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0005916 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0001263 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0001385 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0001511 ORPHA:2370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0001671 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0002644 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0002650 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0002652 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0003196 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0003312 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0004209 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0004322 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0004349 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0007957 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0000256 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0000486 ORPHA:2379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0001249 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0001250 ORPHA:2379 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0002007 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0002063 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0002167 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0002396 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0100022 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1048 Isolated anencephaly/exencephaly HP:0002323 ORPHA:1048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1048 Isolated anencephaly/exencephaly HP:0008207 ORPHA:1048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0000164 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0000168 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0000272 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0000490 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0000970 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0001058 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0001256 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0002661 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0007021 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0007249 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0010829 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0000750 ORPHA:163721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0001250 ORPHA:163721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0011098 ORPHA:163721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0001249 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0002307 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0007334 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0011196 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0011198 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0031491 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0007359 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0000736 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0001260 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0001328 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0001611 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0002079 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0002546 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0010300 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0031434 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0000028 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0000238 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0000316 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0000366 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0000430 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0000448 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0000457 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0005916 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0001177 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0001199 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0001249 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0001252 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0001376 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0001770 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0001841 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0001883 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0002000 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0002714 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0003019 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0006101 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0007370 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0008368 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0009556 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0009601 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0010503 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0010689 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0003974 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2378 Laurin-Sandrow syndrome HP:0100524 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001251 ORPHA:64753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001284 ORPHA:64753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0006855 ORPHA:64753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0007141 ORPHA:64753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0000640 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0000657 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001152 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0002141 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0003474 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0006254 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0000486 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001266 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001332 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0002015 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0002174 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0002346 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0002839 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0003073 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0003124 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0003236 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0003487 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0007256 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000047 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000069 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000160 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000233 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000252 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000347 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000457 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000929 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001252 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001541 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001561 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001562 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001744 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001852 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001903 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001928 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0002093 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0006703 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0008678 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0008736 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0000028 ORPHA:2377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0000083 ORPHA:2377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0000248 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0000286 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0000368 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0000407 ORPHA:2377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0000486 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0000518 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0000612 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0000639 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0001156 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0001161 ORPHA:2377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0001249 ORPHA:2377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0001251 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0001513 ORPHA:2377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0030680 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0002612 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0004322 ORPHA:2377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0005978 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0006101 ORPHA:2377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0007598 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0008736 ORPHA:2377 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0009896 ORPHA:2377 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2377 Laurence-Moon syndrome HP:0100627 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0010566 ORPHA:64754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0025249 ORPHA:64754 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0000252 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0000518 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0001052 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0001250 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0001595 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0001760 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0001770 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0002414 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0002650 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0003298 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0003468 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0006101 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0008064 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64754 Nevus comedonicus syndrome HP:0100258 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0000045 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0000064 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0000767 ORPHA:64755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0000768 ORPHA:64755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0000902 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0001034 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0002558 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0002650 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0002808 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0002983 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0002992 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0003298 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0003724 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0005815 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0010311 ORPHA:64755 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0010566 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0100559 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0100560 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64755 Becker nevus syndrome HP:0100578 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0001605 ORPHA:2375 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0002110 ORPHA:2375 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0004886 ORPHA:2375 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0000252 ORPHA:2375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0001270 ORPHA:2375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0002342 ORPHA:2375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0012768 ORPHA:2375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2374 Congenital laryngeal web HP:0001601 ORPHA:2374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2374 Congenital laryngeal web HP:0001609 ORPHA:2374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2374 Congenital laryngeal web HP:0001671 ORPHA:2374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2374 Congenital laryngeal web HP:0002098 ORPHA:2374 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2374 Congenital laryngeal web HP:0004322 ORPHA:2374 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2374 Congenital laryngeal web HP:0010307 ORPHA:2374 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2373 Congenital laryngomalacia HP:0000175 ORPHA:2373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2373 Congenital laryngomalacia HP:0001601 ORPHA:2373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2373 Congenital laryngomalacia HP:0001608 ORPHA:2373 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2373 Congenital laryngomalacia HP:0100335 ORPHA:2373 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001265 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001270 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001558 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001776 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0002540 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0002804 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0008935 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0030200 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0430025 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000028 ORPHA:319332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0002650 ORPHA:319332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000276 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000343 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000400 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000486 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001181 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001188 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001249 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001518 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0003391 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0005191 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0005280 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0005469 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0008897 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0011471 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0012785 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0031729 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000252 ORPHA:319332 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001561 ORPHA:319332 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0040081 ORPHA:319332 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0001942 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0001944 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0001974 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0002013 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0002018 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0002098 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0002615 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0000083 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0001635 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0001871 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0002014 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0002148 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0002900 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0002901 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0002902 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0002917 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0003111 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0003128 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0004360 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0004372 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0005521 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0006543 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0006846 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0011106 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0011675 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0012819 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0030149 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0100520 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31824 Colchicine poisoning HP:0001596 ORPHA:31824 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000164 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000348 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000490 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000750 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001999 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0003189 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0009765 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0040196 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000010 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000119 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000278 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000286 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000319 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000670 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001263 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001627 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0002119 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0006989 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0010864 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0012443 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000047 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000054 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000077 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000085 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000122 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000215 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000220 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000307 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000337 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000365 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000689 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001328 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001631 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001643 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001845 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0002023 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0008209 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0009890 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0010282 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0011623 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0011682 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0012382 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0012385 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0030127 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0000666 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0002268 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0002356 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0007104 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0007332 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0011295 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0012012 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0001250 ORPHA:163727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0001942 ORPHA:31825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0000505 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0000622 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0000822 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0002170 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0003077 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0030955 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0031982 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0000587 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0000618 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0001259 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0001273 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0001289 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0001658 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0002013 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0002014 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0002027 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0002453 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0002500 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0005978 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0007146 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0012128 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0001250 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0001342 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0002339 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0004754 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0005291 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0031422 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31825 Methanol poisoning HP:0100651 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001942 ORPHA:31826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0003128 ORPHA:31826 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001251 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001289 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001350 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001649 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002013 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002018 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002329 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002789 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002901 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0031844 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0031962 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0000083 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0000822 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0000961 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001259 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001635 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001657 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002153 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002315 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002615 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002793 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0004885 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0005110 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0005263 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0007695 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0030955 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0031273 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0100598 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0000124 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0000602 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0000639 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0000790 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001250 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001298 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0001336 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002045 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0002181 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0008682 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0010628 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0011037 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0030157 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31826 Ethylene glycol poisoning HP:0031910 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0008131 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0008144 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0008369 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0010741 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0025238 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0030840 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0031051 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0031955 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0100662 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0001369 ORPHA:563991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0010885 ORPHA:563991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0010886 ORPHA:563991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563991 Osteochondrosis of the tarsal bone HP:0100323 ORPHA:563991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0010866 ORPHA:2369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0011418 ORPHA:2369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0040064 ORPHA:2369 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0000077 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0000765 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0000776 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0000925 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001196 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001627 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001629 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001631 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001683 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0002011 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0005257 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0006711 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0000175 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0000238 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0000316 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0000431 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0000453 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0000612 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001132 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001195 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001392 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001540 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001776 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0001839 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0002084 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0002143 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0002242 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0002323 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0002414 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0002475 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0002933 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0003298 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0004275 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0005280 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0006368 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0006496 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0007385 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0007957 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0008458 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0009775 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0010055 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0010242 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0010541 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0010554 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0100656 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2369 Limb body wall complex HP:0410030 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2368 Gastroschisis HP:0001543 ORPHA:2368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2368 Gastroschisis HP:0011100 ORPHA:2368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2368 Gastroschisis HP:0100016 ORPHA:2368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000069 ORPHA:1035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000218 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000348 ORPHA:1035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000368 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000444 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000463 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000486 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000494 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000958 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001166 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001249 ORPHA:1035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001250 ORPHA:1035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001252 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001513 ORPHA:1035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001537 ORPHA:1035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001631 ORPHA:1035 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001852 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0002007 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0002353 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0002857 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0002983 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0004322 ORPHA:1035 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0005692 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0100720 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0002151 ORPHA:2364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003236 ORPHA:2364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003542 ORPHA:2364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0002913 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003326 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003394 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003552 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0000972 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0009020 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0000083 ORPHA:2364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003201 ORPHA:2364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000164 ORPHA:2363 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000217 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000377 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000478 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000670 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000682 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001097 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0009926 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0010286 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0011297 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0011481 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0011482 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000369 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000378 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000405 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000407 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000410 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000495 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000508 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000668 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000691 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001092 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001096 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001159 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001172 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001770 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001999 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0002984 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0006101 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0006297 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0007656 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0007892 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0007925 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0009777 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0009778 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0009942 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0011496 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0012155 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0012804 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0030084 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0032107 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000028 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000076 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000089 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000126 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000193 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000202 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000347 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000453 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000458 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000577 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000813 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001250 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001263 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001369 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001643 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0002015 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0002164 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0002650 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0005349 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0008551 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0011487 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0012108 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0000112 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0000121 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0000212 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0000682 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0000684 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0000705 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0006286 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0011073 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0031428 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0100530 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0000083 ORPHA:1031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0000805 ORPHA:1031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0003127 ORPHA:1031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0004727 ORPHA:1031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1031 Enamel-renal syndrome HP:0012365 ORPHA:1031 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0006665 ORPHA:96334 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001263 ORPHA:96334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001561 ORPHA:96334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001999 ORPHA:96334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0006267 ORPHA:96334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011968 ORPHA:96334 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000158 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000278 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000470 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000767 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000924 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001371 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001510 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001540 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001622 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002002 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002751 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002866 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002878 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005257 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005268 ORPHA:96334 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005280 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0008551 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0008897 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0009826 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011335 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011823 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012745 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000028 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000160 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000252 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000260 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000286 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000303 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000322 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000327 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000343 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000347 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000358 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000431 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000445 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000463 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000490 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000581 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000773 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000774 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000882 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000884 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000890 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000907 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000919 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000946 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000954 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000973 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001181 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001220 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001250 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001252 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001339 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001357 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001433 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001520 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001538 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001539 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001601 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001615 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001629 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001631 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001639 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001792 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001840 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002007 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002057 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002089 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002091 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002092 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002240 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002307 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002557 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002645 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002650 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002673 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002694 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002884 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002937 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002982 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0003049 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0003186 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0003241 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0004299 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0004322 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0004415 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005054 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005736 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005989 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0006591 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0006610 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0007685 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0009600 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0009824 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0009832 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0009836 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0010034 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0010301 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0010561 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0010655 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0010804 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011343 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011344 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011471 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011824 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012284 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012303 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012385 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012428 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012471 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0040024 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0100864 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001511 ORPHA:96334 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001548 ORPHA:96334 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001629 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001642 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001643 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001647 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001680 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001714 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0002079 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0002119 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0002608 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0003196 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0005280 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0010800 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0011220 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000505 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000708 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000750 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001249 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001263 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001270 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001627 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0007018 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0012443 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000293 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000483 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000486 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000718 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000739 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001250 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001319 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0002019 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0002360 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0011968 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0012745 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000358 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000365 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000414 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000453 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000490 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000494 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000540 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000545 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000567 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000646 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000664 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000729 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001321 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:211067 Episodic ataxia type 5 HP:0000640 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:211067 Episodic ataxia type 5 HP:0001251 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:211067 Episodic ataxia type 5 HP:0001260 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:211067 Episodic ataxia type 5 HP:0002078 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:211067 Episodic ataxia type 5 HP:0002172 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:211067 Episodic ataxia type 5 HP:0002321 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397685 Familial hyperprolactinemia HP:0000132 ORPHA:397685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397685 Familial hyperprolactinemia HP:0000134 ORPHA:397685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397685 Familial hyperprolactinemia HP:0000141 ORPHA:397685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397685 Familial hyperprolactinemia HP:0000789 ORPHA:397685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397685 Familial hyperprolactinemia HP:0000876 ORPHA:397685 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397685 Familial hyperprolactinemia HP:0000938 ORPHA:397685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397685 Familial hyperprolactinemia HP:0000939 ORPHA:397685 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397685 Familial hyperprolactinemia HP:0012886 ORPHA:397685 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397685 Familial hyperprolactinemia HP:0100829 ORPHA:397685 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000028 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000160 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000164 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000218 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000286 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000293 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000316 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000322 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000347 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000348 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000365 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000369 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000430 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000445 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000470 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000486 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000494 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000568 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000581 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000647 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000964 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0005916 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0001249 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0001611 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0001999 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0002263 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0006101 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0007370 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0007730 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0007957 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0008736 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0010489 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0100490 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000311 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000508 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0000518 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0001252 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0002714 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284160 8q21.11 microdeletion syndrome HP:0004408 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0000028 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0000046 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0000202 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0000293 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0000347 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0001561 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0001671 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0006703 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0008736 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0009812 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0009827 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0010494 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1027 Autosomal recessive amelia HP:0100335 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0000272 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0000286 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0000297 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0000303 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0000729 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0000739 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0000752 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0001250 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0001263 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0001290 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0001321 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0002079 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0002342 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0002360 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0002553 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0008050 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0009088 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0012471 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0045075 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521258 Xq25 microduplication syndrome HP:0004322 ORPHA:521258 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0000112 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0000217 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0000709 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0000979 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0000988 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001097 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001250 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001287 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001369 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001386 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001387 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001596 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001744 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001878 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001701 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001882 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0001945 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002020 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002092 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002094 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002102 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002206 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002239 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002240 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002716 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002797 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002829 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0002960 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0003010 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0003326 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0003565 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0005263 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0006530 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0009830 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0010885 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0012378 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0012819 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0100324 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0100614 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0100721 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:809 Mixed connective tissue disease HP:0100749 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0100730 ORPHA:2357 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0031983 ORPHA:2357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0045026 ORPHA:2357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0001945 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002031 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002090 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002094 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0003319 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0012735 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0031035 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0032016 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0032445 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0100749 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0000464 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0000775 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0001324 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0001637 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0001697 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002015 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002027 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002103 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002105 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002315 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002577 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002585 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0002699 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0003396 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0003401 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0003418 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0010766 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0030833 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0100712 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2357 Bronchogenic cyst HP:0100750 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002315 ORPHA:2356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0010576 ORPHA:2356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0032070 ORPHA:2356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000020 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000238 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000508 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000622 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000639 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000651 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000716 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000734 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000737 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000745 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000818 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0000933 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0001123 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0001250 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0001269 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0001288 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0001293 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0001317 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0001350 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002018 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002027 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002138 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002176 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002273 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002308 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002321 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002354 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002385 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002460 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002540 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002839 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002936 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0003401 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0003418 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0003698 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0004396 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0005324 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0006824 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0007086 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0007291 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0007340 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0009745 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0010303 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0010628 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0011499 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0011868 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0012246 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0012514 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0012700 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0025331 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0025479 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0030215 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0032327 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0100754 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0100785 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0001249 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0001360 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002084 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0002664 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0012294 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0012758 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0032059 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0032169 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2356 Arachnoid cyst HP:0100951 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0000246 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0000708 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0001254 ORPHA:163703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0001699 ORPHA:163703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0001945 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0002315 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0002353 ORPHA:163703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0002376 ORPHA:163703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0002960 ORPHA:163703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0003326 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0007359 ORPHA:163703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0012735 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000077 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000708 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0001250 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0002539 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0009716 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0009717 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0009719 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0011354 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000107 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000716 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000717 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000718 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000729 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000752 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0001249 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0001328 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0002133 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0002360 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0007359 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0007449 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0008762 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0009594 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0009721 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0009729 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0010615 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0011097 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0012433 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0012469 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0012622 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0012758 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0012798 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0040030 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0100710 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0100716 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0200035 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000083 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000739 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000822 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0001407 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0002098 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0002105 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0002465 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0006772 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0007018 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0009718 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0010953 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0011947 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0100804 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0200040 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0000113 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0002666 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0002878 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0002893 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0002897 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0003774 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0004942 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0005584 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0008208 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0011029 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0012778 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0030405 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:805 Tuberous sclerosis complex HP:0100570 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0000501 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0000529 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0001089 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0007663 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0009918 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0011483 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0011489 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0012040 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0007818 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0007990 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0011484 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0011500 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0011525 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0025309 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0025358 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64734 Iridocorneal endothelial syndrome HP:0001100 ORPHA:64734 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0000252 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0000275 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0000347 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0000363 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0000387 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0000444 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0000494 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0000501 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0000682 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0001249 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0001363 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0001385 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0001511 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0001852 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0002209 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0002650 ORPHA:808 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0002750 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0004209 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0004322 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0004326 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0005692 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0007495 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0009804 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0010579 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0011342 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:808 Seckel syndrome HP:0100543 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000499 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000548 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000556 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000574 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000613 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000639 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000648 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000664 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0002208 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000505 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0008499 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000713 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000726 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000738 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001250 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001276 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001289 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001300 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001336 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002120 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002185 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002354 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002463 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0003791 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0012433 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0012759 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000734 ORPHA:1020 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000504 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000657 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001249 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001251 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002186 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002381 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0010525 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0010526 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0011446 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0030219 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0000256 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0000343 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0000347 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0000463 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0000470 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0000474 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0000476 ORPHA:93298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0000772 ORPHA:93298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0000774 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0001537 ORPHA:93298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0001561 ORPHA:93298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0001762 ORPHA:93298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0001773 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0001789 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0002007 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0030680 ORPHA:93298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0002983 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0003196 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0003336 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0003498 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0003510 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0005716 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0006703 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0010306 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0012368 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93298 Achondrogenesis type 1B HP:0100541 ORPHA:93298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0000256 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0000343 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0000347 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0000463 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0000470 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0000474 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0000476 ORPHA:93299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0000774 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0001537 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0001561 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0001773 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0001789 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0002007 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0030680 ORPHA:93299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0002757 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0002983 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0003196 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0003270 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0003336 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0003510 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0004279 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0005716 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0006640 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0006703 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0010306 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0012368 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93299 Achondrogenesis type 1A HP:0100541 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001072 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002829 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002960 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0003326 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0003493 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0030880 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0031359 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0000160 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0000716 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001324 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0003198 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0003236 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0011838 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0012531 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0025131 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0030859 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0000491 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0000554 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0000739 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0000966 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0000989 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001250 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001279 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001297 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001369 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001371 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001596 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001701 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001708 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0001919 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002020 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002092 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002094 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002206 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002244 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002250 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002315 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002577 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002584 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002604 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002754 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0005590 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0006121 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0006261 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0006530 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0007141 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0007400 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0009771 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0011024 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0011799 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0012622 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0012819 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0025520 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0030873 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0030890 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0031293 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0031329 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0100534 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0100543 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0100580 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0100661 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0000763 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002059 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002176 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0002326 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0007256 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0010628 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0012185 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0012486 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0025533 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0032018 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0032061 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0045054 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0100537 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:801 Scleroderma HP:0100758 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0000138 ORPHA:64739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0000837 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0001007 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0001541 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0002017 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0002018 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0002027 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0002202 ORPHA:64739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0003270 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0007430 ORPHA:64739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0008675 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0011106 ORPHA:64739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0012398 ORPHA:64739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0030088 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0012886 ORPHA:64739 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0030005 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64739 Ovarian hyperstimulation syndrome HP:0100598 ORPHA:64739 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0003026 ORPHA:93296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0011849 ORPHA:93296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0000201 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0000478 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0000773 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0000774 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0000946 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0000969 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0002089 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0002652 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0002983 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0004322 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0004605 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0008788 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0008828 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0011800 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0030290 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0031096 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0000365 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0000518 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0000541 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0000545 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0001132 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0004327 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93296 Achondrogenesis type 2 HP:0006543 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0007354 ORPHA:803 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0002180 ORPHA:803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0003324 ORPHA:803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0007373 ORPHA:803 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0000217 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0000712 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0000716 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0000739 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0001257 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0002094 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0002795 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0002878 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0003202 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0003394 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0003470 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0012378 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0012531 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0030192 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0030195 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0030196 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0000713 ORPHA:803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0002017 ORPHA:803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:803 Amyotrophic lateral sclerosis HP:0025425 ORPHA:803 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000023 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000069 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000079 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000160 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000175 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000205 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000211 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000218 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000232 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000252 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000293 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000294 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000298 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000316 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000343 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000347 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000368 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000396 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000426 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000470 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000482 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000486 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000505 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000508 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000518 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000534 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000545 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000581 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000600 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000643 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000689 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000737 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000739 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000767 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000768 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000772 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000787 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000912 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000926 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000939 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0000944 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001083 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001239 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001249 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001265 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001276 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001288 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001324 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001385 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001387 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001522 ORPHA:800 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001537 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001557 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001561 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001601 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001618 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001620 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001621 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001762 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0001763 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002047 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002092 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002093 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002104 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002167 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002230 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002486 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002645 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002650 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002652 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002673 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002750 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002804 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002808 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002812 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002857 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0002983 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003042 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003044 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003179 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003198 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003202 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003236 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003273 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003306 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003307 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003326 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003457 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0003712 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0004322 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0004325 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0004326 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0005830 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0005930 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0006487 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0007018 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0007740 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0008056 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0008734 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0008872 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0009743 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0010508 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0010978 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0011001 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0011069 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0011675 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0012368 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0012544 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0100569 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0100612 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0100795 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:800 Schwartz-Jampel syndrome HP:0100813 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000232 ORPHA:1028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000682 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000684 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000958 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000962 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000966 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0001231 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0001800 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0001806 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0002213 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0006286 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0006288 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0006482 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0009804 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0011073 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0002155 ORPHA:444490 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0003077 ORPHA:444490 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0012238 ORPHA:444490 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0000660 ORPHA:444490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0001433 ORPHA:444490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0001735 ORPHA:444490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0002574 ORPHA:444490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0100027 ORPHA:444490 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0001013 ORPHA:444490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0001397 ORPHA:444490 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0001508 ORPHA:444490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0002017 ORPHA:444490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0004325 ORPHA:444490 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0000716 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0000726 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0000819 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0000952 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0002204 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0002354 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0009789 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0100851 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:444490 Familial chylomicronemia syndrome HP:0004416 ORPHA:444490 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000026 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000501 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000648 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000709 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000716 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000726 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000729 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000739 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000821 ORPHA:411590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000823 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0001952 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000863 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0002073 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0002093 ORPHA:411590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0002579 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0003477 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0008527 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000819 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0008193 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0000377 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0008850 ORPHA:411590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411590 Wolfram-like syndrome HP:0010935 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000160 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000219 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000303 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000322 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000325 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000369 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000385 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000417 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000444 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000490 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000494 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000708 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000709 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0001519 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000712 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0010864 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000678 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000738 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000746 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0000750 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0001166 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0001270 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0002751 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397695 3q27.3 microdeletion syndrome HP:0007074 ORPHA:397695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0000825 ORPHA:411593 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0000831 ORPHA:411593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0000855 ORPHA:411593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0002725 ORPHA:411593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0010702 ORPHA:411593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0030057 ORPHA:411593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0000956 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0001824 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0001958 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0002960 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0003162 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0005059 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411593 Insulin autoimmune syndrome HP:0012051 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000175 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000256 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000260 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000369 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000470 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000773 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000774 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000907 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000926 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000946 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0000969 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0001156 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0001538 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0001561 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0001623 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0001631 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0001762 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0002763 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0003015 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0003174 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0003417 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0005026 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0005622 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0008178 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0008479 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0008890 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2347 Lethal Kniest-like dysplasia HP:0012368 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0000098 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0000140 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0000252 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0000256 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0000324 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0000501 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0000518 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0000790 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0000965 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0000995 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001004 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001012 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001048 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001161 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001180 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001250 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001528 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001626 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001635 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001704 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0001928 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0002204 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0002239 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0030680 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0002597 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0002650 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0002653 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0002814 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0004099 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0004936 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0005293 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0006101 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0007481 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0100543 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0100553 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0100554 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0100585 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0100658 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0100729 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0100761 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0100784 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2346 Angioosteohypertrophic syndrome HP:0200042 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64741 Pulmonary blastoma HP:0001824 ORPHA:64741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64741 Pulmonary blastoma HP:0001945 ORPHA:64741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64741 Pulmonary blastoma HP:0002094 ORPHA:64741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64741 Pulmonary blastoma HP:0002105 ORPHA:64741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64741 Pulmonary blastoma HP:0002113 ORPHA:64741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64741 Pulmonary blastoma HP:0006532 ORPHA:64741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64741 Pulmonary blastoma HP:0012735 ORPHA:64741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64741 Pulmonary blastoma HP:0100528 ORPHA:64741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64741 Pulmonary blastoma HP:0100749 ORPHA:64741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome HP:0000815 ORPHA:1014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome HP:0001256 ORPHA:1014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome HP:0007418 ORPHA:1014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000175 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000324 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000365 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000465 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000470 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000772 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000912 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000925 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0001291 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0001629 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0002023 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0002162 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0002414 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0030680 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0002650 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0003043 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0004374 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0004397 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0004602 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0005107 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0005640 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0005988 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0008678 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2345 Isolated Klippel-Feil syndrome HP:0100543 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0008151 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0030146 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0030169 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0031015 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0000952 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0000989 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0001405 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0001541 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0001873 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0002239 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0002480 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0002719 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0002904 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0002910 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0003073 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0011954 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0020136 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0020137 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0030242 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0100543 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0001402 ORPHA:64743 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0001744 ORPHA:64743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0001903 ORPHA:64743 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0001409 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0001882 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0001892 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0001971 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0002040 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0003262 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64743 Hepatoportal sclerosis HP:0006707 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0000853 ORPHA:64744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0100646 ORPHA:64744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0000821 ORPHA:64744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0000872 ORPHA:64744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0025379 ORPHA:64744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0032069 ORPHA:64744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0032300 ORPHA:64744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0001605 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0002015 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0002777 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0002901 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0002960 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0005994 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0009798 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0100647 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0005200 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0011784 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0012503 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0030991 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0031281 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0032039 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0045026 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0100732 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0002664 ORPHA:64744 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:64744 IgG4-related thyroid disease HP:0012393 ORPHA:64744 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0000989 ORPHA:64745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0001065 ORPHA:64745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030350 ORPHA:64745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030351 ORPHA:64745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0001036 ORPHA:64745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0004324 ORPHA:64745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0025474 ORPHA:64745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030898 ORPHA:64745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0200037 ORPHA:64745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0001041 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030899 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030900 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0031248 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0031538 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0100872 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0000976 ORPHA:64745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0008066 ORPHA:64745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0025493 ORPHA:64745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030901 ORPHA:64745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0002715 ORPHA:64745 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0000825 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001985 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001988 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0012051 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0030796 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0031084 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0040299 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0000713 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0000980 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001069 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001520 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001649 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001962 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0002329 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0012759 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001254 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001279 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001325 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001639 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0002133 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0002173 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0002240 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0002591 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0007185 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0011968 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0031224 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0000653 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0000982 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0001597 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0002209 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0008404 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0045075 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0000958 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0001807 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0004528 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0010491 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0011838 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0012785 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0032152 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0001041 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0001058 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0002223 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0002298 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0002435 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0009886 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0009900 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0031057 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0040189 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0100018 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0000613 ORPHA:1010 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0001250 ORPHA:1010 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98976 Congenital glaucoma HP:0000501 ORPHA:98976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98976 Congenital glaucoma HP:0001052 ORPHA:98976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98976 Congenital glaucoma HP:0000541 ORPHA:98976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98976 Congenital glaucoma HP:0000572 ORPHA:98976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0000505 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0000525 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0000587 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0000593 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0001138 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0007854 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0007906 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0007994 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0012108 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0011003 ORPHA:98977 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0012511 ORPHA:98977 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0012796 ORPHA:98977 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0000603 ORPHA:98977 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0012636 ORPHA:98977 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98977 Juvenile glaucoma HP:0025326 ORPHA:98977 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0011490 ORPHA:98973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0011491 ORPHA:98973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000483 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000646 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0007663 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0011483 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0012040 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0025358 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0032122 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0100692 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000501 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000565 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000613 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000622 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000632 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0007906 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0007957 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0009918 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0200026 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0200065 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0000158 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0000280 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0000821 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0000952 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0001288 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0001324 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0001537 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0002019 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0002167 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0002360 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0003198 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0003326 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0003712 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0004322 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0100543 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:443167 NUT midline carcinoma HP:0002664 ORPHA:443167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:443167 NUT midline carcinoma HP:0001909 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443167 NUT midline carcinoma HP:0002860 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443167 NUT midline carcinoma HP:0003006 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443167 NUT midline carcinoma HP:0012182 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443167 NUT midline carcinoma HP:0012254 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443167 NUT midline carcinoma HP:0045026 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443167 NUT midline carcinoma HP:0100757 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:443167 NUT midline carcinoma HP:0012142 ORPHA:443167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002015 ORPHA:1018 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002031 ORPHA:1018 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0012718 ORPHA:1018 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0100751 ORPHA:1018 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000093 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000112 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000407 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000478 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000518 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000790 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0001508 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002013 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002020 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002571 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0003262 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0006756 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0010460 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0012622 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0100749 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0100771 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0410281 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000491 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000545 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0001824 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002094 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002205 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0003774 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0006524 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0010450 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0010614 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0010784 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0011501 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0011951 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0012252 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0012735 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0030416 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0032141 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0040288 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0100650 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0000969 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0007663 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0007957 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0011488 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0011490 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0011491 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0000572 ORPHA:98974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0000662 ORPHA:98974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0030857 ORPHA:98974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000147 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000311 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000819 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000855 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000869 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000956 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000963 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000991 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001397 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001597 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001635 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001639 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001677 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001733 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001744 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0002155 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0002230 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0002240 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0002621 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0003198 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0003326 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0003635 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0003712 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0005339 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0006288 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0006824 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0008065 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0009125 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0012084 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0100578 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0100607 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0100658 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0100820 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0001256 ORPHA:86909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0001326 ORPHA:86909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0002069 ORPHA:86909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0002123 ORPHA:86909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0007018 ORPHA:86909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0000718 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0000737 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0001263 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0001268 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0001336 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0002275 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0002376 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0007057 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0001112 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0001260 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0002121 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0002373 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0002463 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0007207 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0010862 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86909 Myoclonic epilepsy of infancy HP:0002301 ORPHA:86909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0003005 ORPHA:251937 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0002315 ORPHA:251937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0010302 ORPHA:251937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0012377 ORPHA:251937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0100006 ORPHA:251937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0000141 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0000802 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0000845 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0000975 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0002363 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0002460 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0002650 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0003401 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0005616 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0007359 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0011749 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0011761 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0012503 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0030018 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0040086 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0000726 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0001262 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0001317 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0002591 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0003396 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251937 Gangliocytoma HP:0006767 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009942 ORPHA:363417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0011297 ORPHA:363417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000164 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000668 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001090 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001156 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001249 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001263 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001510 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001566 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001999 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0006152 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0008625 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009608 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009944 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009966 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009970 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0011087 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0100266 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000160 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000311 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000327 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000347 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000369 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000517 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000592 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000648 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000677 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000691 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000692 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001328 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001773 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0002465 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0003196 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0004209 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0004279 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0004322 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0005037 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0008368 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009466 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0010109 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0010554 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0011078 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0012795 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0040022 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0040159 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0100345 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0100347 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000252 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000262 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000316 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000368 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000400 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000448 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000545 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000582 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000682 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000924 ORPHA:1005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000962 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000966 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0001156 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0001249 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0001387 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0001511 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0001596 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0002650 ORPHA:1005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0002808 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0002827 ORPHA:1005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0003422 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0003510 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0004209 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0004422 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0005048 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0005819 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0006101 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0006887 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0008064 ORPHA:1005 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0008070 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0008388 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0008855 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0009738 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0009811 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0011039 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1003 Scalp defects-postaxial polydactyly syndrome HP:0001362 ORPHA:1003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1003 Scalp defects-postaxial polydactyly syndrome HP:0002084 ORPHA:1003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1003 Scalp defects-postaxial polydactyly syndrome HP:0002209 ORPHA:1003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1003 Scalp defects-postaxial polydactyly syndrome HP:0005696 ORPHA:1003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0000491 ORPHA:2334 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0000539 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0001104 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0007663 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0007750 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0007759 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0007990 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0011496 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0025348 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0032107 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0000482 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0000518 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0000526 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0000589 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0006934 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2334 Autosomal dominant keratitis HP:0007633 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000003 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000233 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000252 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000256 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000311 ORPHA:1001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000405 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000430 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000463 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000470 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000490 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0045075 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000582 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000708 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000717 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000722 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000733 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000776 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0000964 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001156 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001249 ORPHA:1001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001250 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001252 ORPHA:1001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001263 ORPHA:1001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001513 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001537 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001601 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001679 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001770 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0001773 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0002007 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0002021 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0002209 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0002360 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0002553 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0002558 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0030680 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0002667 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0002714 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0002779 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0004209 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0004279 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0004322 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0005280 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0005692 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0006101 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0006610 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0007018 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0007598 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0010049 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0010761 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0011800 ORPHA:1001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1001 2q37 microdeletion syndrome HP:0200055 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000343 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000400 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000426 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000430 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000463 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000465 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000470 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000486 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000506 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000574 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000637 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000664 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000677 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000891 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000954 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0001263 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0001566 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0001572 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0002650 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000028 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000175 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000219 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000252 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000316 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000325 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0002750 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0002942 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0002948 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0004322 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0008513 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0010720 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0011842 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0011968 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0012725 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0040019 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0000311 ORPHA:2332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0001250 ORPHA:2332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0002353 ORPHA:2332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0004474 ORPHA:2332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2332 KBG syndrome HP:0045017 ORPHA:2332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0000407 ORPHA:1000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0000486 ORPHA:1000 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0000505 ORPHA:1000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0000613 ORPHA:1000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0000639 ORPHA:1000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0001107 ORPHA:1000 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0000093 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0000509 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0000988 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0002633 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0025289 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0025493 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0100776 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0100825 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0000206 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0000969 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0001369 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0001654 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0001701 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0001945 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0001974 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0002014 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0002027 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0012378 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0100643 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0000508 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0000737 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0000952 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0001082 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0001287 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0001635 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0002017 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0002076 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0002829 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0004970 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0006530 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0006824 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0011658 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0011675 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0012115 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0012819 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2331 Kawasaki disease HP:0100586 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000053 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000147 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000218 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000252 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000303 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000316 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000365 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000454 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000455 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000470 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000486 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000494 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000540 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000739 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000767 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000776 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001182 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001250 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001252 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0004322 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001537 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001620 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001956 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001999 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0002342 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0002650 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0002788 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0004691 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0007018 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0007164 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0008070 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0009890 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0011343 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0200055 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0001250 ORPHA:268940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0000565 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0000750 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0001256 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0001263 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0001268 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0001270 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0001272 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0001285 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0002119 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0002200 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0002342 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0002463 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0004302 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0007256 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0007362 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0009878 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0010522 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0011099 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0012429 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0012650 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0007359 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0100543 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0000154 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0000183 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0000256 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0000347 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0000369 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0000407 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0001260 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0001349 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0001762 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0002069 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0002123 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0002197 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0002307 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0002804 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0006818 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0007024 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0012650 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0011787 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0011968 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0012469 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:0410011 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268940 Bilateral polymicrogyria HP:3000047 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001249 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001250 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001269 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0002510 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0002539 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0007010 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0007024 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0010818 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0000421 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0000505 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0000565 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0000750 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0000961 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001256 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001270 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001297 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001312 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001336 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001999 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0002104 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0002133 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0002384 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0002421 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0002533 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0004305 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0006548 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0008610 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0008936 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0011344 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0012389 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0012469 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0012650 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0007359 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0000252 ORPHA:268943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001335 ORPHA:268943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0001627 ORPHA:268943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268943 Unilateral polymicrogyria HP:0040288 ORPHA:268943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0001028 ORPHA:2330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0001873 ORPHA:2330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0011900 ORPHA:2330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0000967 ORPHA:2330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0000979 ORPHA:2330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0005306 ORPHA:2330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0012329 ORPHA:2330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0000975 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0001875 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0001882 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0001903 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0001937 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0005520 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0008151 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0031207 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0100766 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0000998 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0001923 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0002027 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0002098 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0003270 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0008069 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2330 Kasabach-Merritt syndrome HP:0040213 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0000707 ORPHA:466650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002047 ORPHA:466650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002018 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002315 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002321 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002789 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0011703 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0012378 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0030850 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001250 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001251 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001254 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001289 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001324 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001410 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001657 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001892 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002013 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002153 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002615 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002901 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002905 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0003128 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0003236 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0003256 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0003710 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0005135 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0012250 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0012417 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0030830 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0031258 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0031284 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0100520 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0000958 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0000970 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001399 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001873 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001919 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002480 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0003201 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466650 Exercise-induced malignant hyperthermia HP:0005521 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0001249 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0001250 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0001263 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0001269 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0002539 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0011099 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0011153 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0100308 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0001256 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0001268 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0002342 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0007018 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0007334 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0007377 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0012015 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0012018 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0000020 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0000718 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0000758 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0001335 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0002354 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0002384 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0002463 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0007010 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0007229 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0011171 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0012014 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0012016 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268947 Unilateral focal polymicrogyria HP:0012017 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0007968 ORPHA:91495 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000518 ORPHA:91495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000555 ORPHA:91495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000568 ORPHA:91495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0007663 ORPHA:91495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0007957 ORPHA:91495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000519 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0007917 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0009917 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0012109 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0030743 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0030744 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000482 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000486 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000557 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000594 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000618 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000646 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000667 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0001104 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0008052 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0009926 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0011885 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:91495 Persistent hyperplastic primary vitreous HP:0010766 ORPHA:91495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000164 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000230 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000238 ORPHA:1008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000365 ORPHA:1008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000499 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000704 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000995 ORPHA:1008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0001250 ORPHA:1008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0001256 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0002209 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0002231 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0002289 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0002353 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0002354 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0000252 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0000561 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0002059 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0002223 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0003510 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0007439 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0000405 ORPHA:1006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0000499 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0002167 ORPHA:1006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0002205 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0002231 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0002721 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0004313 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0004322 ORPHA:1006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0008070 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0011073 ORPHA:1006 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1006 Alopecia antibody deficiency HP:0100840 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0000989 ORPHA:2337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0007447 ORPHA:2337 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0008066 ORPHA:2337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0010783 ORPHA:2337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0200034 ORPHA:2337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0200042 ORPHA:2337 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0000137 ORPHA:314473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0001541 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0002027 ORPHA:314473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0002202 ORPHA:314473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0002586 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0002671 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0003270 ORPHA:314473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0008703 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0010603 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0010618 ORPHA:314473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314473 Ovarian fibroma HP:0030451 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002448 ORPHA:363400 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000842 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000855 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0003758 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0007272 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0009064 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0025128 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0100543 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000280 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000750 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001250 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001251 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001257 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001336 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001337 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001347 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001348 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001397 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002155 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002275 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002360 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0007256 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000752 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000822 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000956 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001394 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002059 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002066 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002230 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002240 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002273 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002340 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002451 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002529 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002878 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0003198 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002133 ORPHA:363400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90160 Pressure-induced localized lipoatrophy HP:0100578 ORPHA:90160 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:90160 Pressure-induced localized lipoatrophy HP:0003758 ORPHA:90160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90160 Pressure-induced localized lipoatrophy HP:0011356 ORPHA:90160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90160 Pressure-induced localized lipoatrophy HP:0007485 ORPHA:90160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90160 Pressure-induced localized lipoatrophy HP:0010783 ORPHA:90160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90160 Pressure-induced localized lipoatrophy HP:0011123 ORPHA:90160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90160 Pressure-induced localized lipoatrophy HP:0200036 ORPHA:90160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0000013 ORPHA:325124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0000042 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0000054 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0000062 ORPHA:325124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0000837 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0008716 ORPHA:325124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0010469 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0012870 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0012872 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0040171 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325124 Testicular agenesis HP:0100779 ORPHA:325124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000271 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000303 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000322 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000365 ORPHA:2325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000545 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000682 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000684 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0001083 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0001231 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0001596 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0001800 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0001903 ORPHA:2325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0002209 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0003473 ORPHA:2325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0008066 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0009804 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0100543 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0100797 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0100798 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0100578 ORPHA:90158 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0003758 ORPHA:90158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0007485 ORPHA:90158 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0000953 ORPHA:90158 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0000989 ORPHA:90158 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0001010 ORPHA:90158 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0010783 ORPHA:90158 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0011123 ORPHA:90158 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0012344 ORPHA:90158 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0040189 ORPHA:90158 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90158 Idiopathic localized lipodystrophy HP:0100324 ORPHA:90158 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0100578 ORPHA:90159 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0003758 ORPHA:90159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0007485 ORPHA:90159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0010701 ORPHA:90159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0010783 ORPHA:90159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0011123 ORPHA:90159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0200036 ORPHA:90159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0003493 ORPHA:90159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0200029 ORPHA:90159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000316 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000750 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000938 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0001290 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002007 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002194 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002209 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002213 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002757 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0004482 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0005692 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0008897 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000303 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000369 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000414 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000592 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000954 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0001250 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0001757 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002750 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0004691 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0011800 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000028 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000164 ORPHA:2323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000233 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000252 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000343 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000347 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000348 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000368 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000444 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000483 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000490 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000682 ORPHA:2323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0000829 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0001249 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0001250 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0001773 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0002119 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0002205 ORPHA:2323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0002750 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0002901 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0002905 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0003198 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0003416 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0004322 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0005214 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0005280 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0005374 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0005686 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0007957 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0008056 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0008198 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0008572 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0008736 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0008846 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0008897 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2323 Sanjad-Sakati syndrome HP:0200055 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000028 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000047 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000074 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000081 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000126 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000164 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000175 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000202 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000218 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000238 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000252 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000298 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000384 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000400 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000405 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000407 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000411 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000482 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000486 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000508 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000527 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000589 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000592 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000639 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000668 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000687 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000691 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000776 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0000826 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0001250 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0001252 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0001508 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0001513 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0001671 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0001680 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0002000 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0002119 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0002120 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0002353 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0002553 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0002650 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0002719 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0002827 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0002937 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0003312 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0003316 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0004322 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0004736 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0005338 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0005692 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0005819 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0006482 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0007477 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0007655 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0008428 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0008678 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0008736 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0009237 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0010978 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0011968 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0100267 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0100542 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2322 Kabuki syndrome HP:0200055 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0000078 ORPHA:2321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0000252 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0000311 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0000431 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0000506 ORPHA:2321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0000821 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0000929 ORPHA:2321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0000958 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0001249 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0001252 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0001321 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0002162 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0002205 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0002777 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0003312 ORPHA:2321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0005280 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2321 Jung syndrome HP:0007370 ORPHA:2321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70567 Cholangiocarcinoma HP:0000952 ORPHA:70567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70567 Cholangiocarcinoma HP:0000989 ORPHA:70567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70567 Cholangiocarcinoma HP:0001945 ORPHA:70567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70567 Cholangiocarcinoma HP:0002027 ORPHA:70567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70567 Cholangiocarcinoma HP:0002039 ORPHA:70567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70567 Cholangiocarcinoma HP:0011985 ORPHA:70567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70567 Cholangiocarcinoma HP:0012378 ORPHA:70567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70567 Cholangiocarcinoma HP:0100574 ORPHA:70567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0045075 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000653 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000668 ORPHA:59303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000677 ORPHA:59303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000682 ORPHA:59303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000952 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000956 ORPHA:59303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0001396 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0001409 ORPHA:59303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0001744 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0002231 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0002240 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0004552 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0002209 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0008064 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000164 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000218 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000239 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000365 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000518 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000520 ORPHA:90153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000534 ORPHA:90153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000561 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000855 ORPHA:90153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000953 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000963 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0001252 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0001371 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0001376 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0001596 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0001870 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0002645 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0002797 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0002829 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0003011 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0003077 ORPHA:90153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0004322 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0004334 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0005328 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0006710 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0007495 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0009839 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0009882 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0100679 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0100783 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0000825 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0000842 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001985 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0003162 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0030796 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0031084 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0040299 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0000713 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0000980 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001069 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001520 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001649 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001962 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0002173 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0002329 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0012759 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0031223 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0031224 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001254 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001279 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001325 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001639 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0002133 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0002240 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0002591 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0007185 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0011968 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0100651 ORPHA:276575 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000160 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000164 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000239 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000347 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000444 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000520 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000823 ORPHA:90154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000855 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000924 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000953 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000963 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0001211 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0001595 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0001596 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0001870 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0002797 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0003077 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0003196 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0003761 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0004322 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0004334 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0005328 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0006710 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0007495 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0008404 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0009064 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0009839 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0009882 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0000252 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0000320 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0000340 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0000414 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0000444 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0001510 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0001873 ORPHA:169079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0001888 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0001903 ORPHA:169079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0002718 ORPHA:169079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0002721 ORPHA:169079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0002960 ORPHA:169079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0004313 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0004429 ORPHA:169079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0005403 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169079 Cernunnos-XLF deficiency HP:0010976 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000202 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000358 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000369 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000414 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000480 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000568 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000612 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0001249 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000059 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000470 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0001508 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0002019 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0002566 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0008736 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000384 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0000413 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0001302 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0001629 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0001636 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0001643 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0002126 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2328 Kapur-Toriello syndrome HP:0006989 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90156 Centrifugal lipodystrophy HP:0100578 ORPHA:90156 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:90156 Centrifugal lipodystrophy HP:0003758 ORPHA:90156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90156 Centrifugal lipodystrophy HP:0007485 ORPHA:90156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90156 Centrifugal lipodystrophy HP:0000765 ORPHA:90156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90156 Centrifugal lipodystrophy HP:0002840 ORPHA:90156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90156 Centrifugal lipodystrophy HP:0010783 ORPHA:90156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90156 Centrifugal lipodystrophy HP:0011123 ORPHA:90156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90156 Centrifugal lipodystrophy HP:0040189 ORPHA:90156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90156 Centrifugal lipodystrophy HP:0001596 ORPHA:90156 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90156 Centrifugal lipodystrophy HP:0005320 ORPHA:90156 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90157 Drug-induced localized lipodystrophy HP:0100578 ORPHA:90157 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:90157 Drug-induced localized lipodystrophy HP:0003758 ORPHA:90157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90157 Drug-induced localized lipodystrophy HP:0007485 ORPHA:90157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90157 Drug-induced localized lipodystrophy HP:0000953 ORPHA:90157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90157 Drug-induced localized lipodystrophy HP:0001010 ORPHA:90157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90157 Drug-induced localized lipodystrophy HP:0010783 ORPHA:90157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0000137 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0001007 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0001541 ORPHA:314478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0002027 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0002202 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0002586 ORPHA:314478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0003117 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0003270 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0006756 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0008703 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0010618 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0030088 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0030126 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0100244 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314478 Ovarian fibrothecoma HP:0100608 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000044 ORPHA:2326 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001249 ORPHA:2326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0010632 ORPHA:2326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000054 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000104 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000175 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000200 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000407 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000823 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000938 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000939 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000961 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001510 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001644 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001719 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0002750 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0004322 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0004971 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0008689 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0008734 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0010633 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0011638 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0012020 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0030148 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001635 ORPHA:2326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001653 ORPHA:2326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001659 ORPHA:2326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0005211 ORPHA:2326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0010444 ORPHA:2326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0000825 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0000842 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001985 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0003162 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0030796 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0031084 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0000713 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0000980 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001069 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001520 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001649 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001962 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0002173 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0002329 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0004924 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0012759 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0031224 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001254 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001279 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001324 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001325 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001639 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0002133 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0002240 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0002591 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0007185 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0009800 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0011968 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0100651 ORPHA:276580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0002070 ORPHA:363432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0002078 ORPHA:363432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0000640 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0000666 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0001290 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0002167 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0002355 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0004302 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0006855 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0012444 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0100543 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001252 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002020 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000486 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001250 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002360 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001388 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001763 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002650 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000403 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000963 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001270 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000750 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001249 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000752 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000736 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000733 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0100023 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0100962 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000817 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0025160 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000737 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000718 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0100716 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000276 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0011220 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000400 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000303 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001634 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002616 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000735 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000739 ORPHA:449291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000716 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001328 ORPHA:449291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002442 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0007018 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002960 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000821 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000836 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000819 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000822 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000729 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0000238 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0000651 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0002017 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0002315 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0002354 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0002516 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0000492 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0000639 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0002131 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0002922 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0030531 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0100543 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0000364 ORPHA:251915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251915 Papillary tumor of the pineal region HP:0002355 ORPHA:251915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000076 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000110 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000126 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000256 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000268 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000272 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000286 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000293 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000307 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000365 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000400 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000414 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000431 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000486 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000490 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000508 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000527 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000540 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000574 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000678 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000689 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000729 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000750 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000752 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000960 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0000966 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001004 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001176 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001249 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001250 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001263 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001274 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001319 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001513 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001537 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001581 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0001800 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0002017 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0002020 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0002360 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0002721 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0003763 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0004209 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0005616 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0007328 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0008278 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0011968 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0012167 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0012787 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0100540 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48652 Monosomy 22q13.3 HP:0100702 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000164 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000175 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000230 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000271 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000389 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000431 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000490 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000684 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000938 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000964 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000988 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000989 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0001363 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0001595 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0001818 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0001880 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0001945 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002205 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002617 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002650 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002665 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002719 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002754 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002757 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0003212 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0005692 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0008391 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0011220 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0011354 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0012735 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0100658 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0100750 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0200034 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0200037 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0200042 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000008 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000023 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000028 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000047 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000069 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000175 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000252 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000256 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000269 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000337 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000343 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000368 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000463 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000470 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000772 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000776 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000902 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0001249 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0001511 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0001537 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0002093 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0002435 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0030680 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0002650 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0002808 ORPHA:2311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0003298 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0003312 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0003422 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0004322 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0005108 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0005280 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0006101 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0006655 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0010306 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0010772 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0010978 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0100490 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0100589 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0000505 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0000518 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0002023 ORPHA:2310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0002650 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0002814 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0002823 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0003307 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0005930 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0009816 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000135 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000407 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000426 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000430 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000431 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000506 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000534 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000633 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000639 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000966 ORPHA:163746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001053 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001100 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001249 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001250 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001251 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001252 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001257 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001263 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001744 ORPHA:163746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002019 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002027 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002216 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002240 ORPHA:163746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002251 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002595 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002804 ORPHA:163746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0004388 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0005599 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0007256 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0009830 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0011675 ORPHA:163746 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0000252 ORPHA:2319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0000445 ORPHA:2319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0001511 ORPHA:2319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0003510 ORPHA:2319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0000047 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0000085 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0000202 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0000316 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0000534 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0000772 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0005916 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0001167 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0001249 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0001765 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0001770 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0002553 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0002650 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0002974 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0002984 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0003019 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0003468 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0009778 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0009811 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0000508 ORPHA:2319 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0001305 ORPHA:2319 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2319 Juberg-Hayward syndrome HP:0001545 ORPHA:2319 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000083 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000112 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000238 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000276 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000368 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000426 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000463 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000486 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000505 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000508 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000556 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000567 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000612 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000618 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000639 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000708 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000729 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000864 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001161 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001249 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001250 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001251 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001252 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001263 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001320 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001829 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002084 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002104 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002251 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002269 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002419 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002553 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0030680 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002650 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002789 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0004422 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2318 Joubert syndrome with oculorenal defect HP:0007370 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000135 ORPHA:2316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000405 ORPHA:2316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000413 ORPHA:2316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0008070 ORPHA:2316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0001596 ORPHA:2316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000324 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000411 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000561 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000670 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0001249 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0002223 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0003510 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0008551 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0010628 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000175 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000232 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000252 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000414 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000453 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000458 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000494 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0000966 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0001161 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0001177 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0001508 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0001636 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2316 Johnson neuroectodermal syndrome HP:0007565 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000047 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000126 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000142 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000164 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000252 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000407 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000430 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000632 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000677 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000684 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000691 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000819 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0000969 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001092 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001249 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001252 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001508 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001511 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001522 ORPHA:2315 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001545 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001596 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001651 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001671 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001732 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001738 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0001903 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0002023 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0002024 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0030680 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0002750 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0003075 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0003196 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0004322 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0005288 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0008736 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0010460 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2315 Johanson-Blizzard syndrome HP:0010720 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:211017 Spinocerebellar ataxia type 30 HP:0001260 ORPHA:211017 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:211017 Spinocerebellar ataxia type 30 HP:0002066 ORPHA:211017 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:211017 Spinocerebellar ataxia type 30 HP:0002070 ORPHA:211017 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:211017 Spinocerebellar ataxia type 30 HP:0000640 ORPHA:211017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:211017 Spinocerebellar ataxia type 30 HP:0002395 ORPHA:211017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:211017 Spinocerebellar ataxia type 30 HP:0006855 ORPHA:211017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50942 Striate palmoplantar keratoderma HP:0000982 ORPHA:50942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50942 Striate palmoplantar keratoderma HP:0001595 ORPHA:50942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50942 Striate palmoplantar keratoderma HP:0001597 ORPHA:50942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50943 Keratolytic winter erythema HP:0000975 ORPHA:50943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50943 Keratolytic winter erythema HP:0010783 ORPHA:50943 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50943 Keratolytic winter erythema HP:0200039 ORPHA:50943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0010799 ORPHA:251909 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0002315 ORPHA:251909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0000708 ORPHA:251909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0002344 ORPHA:251909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0002354 ORPHA:251909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0002516 ORPHA:251909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0100543 ORPHA:251909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0000619 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0000763 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0001085 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0001250 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0003470 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0007045 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0007663 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0007987 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0009919 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0100576 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0001254 ORPHA:251909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251909 Pineoblastoma HP:0004372 ORPHA:251909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0000320 ORPHA:50944 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0000668 ORPHA:50944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0000968 ORPHA:50944 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0000982 ORPHA:50944 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0008070 ORPHA:50944 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0001596 ORPHA:50944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0002671 ORPHA:50944 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0002860 ORPHA:50944 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0006323 ORPHA:50944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0007380 ORPHA:50944 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0100615 ORPHA:50944 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0100840 ORPHA:50944 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000272 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000343 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000347 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000369 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000463 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000506 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000518 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000520 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000695 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000773 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000774 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000916 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000926 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0001538 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0001561 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0001622 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0001680 ORPHA:50945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0001789 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0002089 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0003015 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0003021 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0003027 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0003196 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0005280 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0005616 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0005716 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0005930 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0006402 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0006487 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0006660 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0008905 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0008921 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0010049 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0010306 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0010808 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0011001 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0100240 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000639 ORPHA:363429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000657 ORPHA:363429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002073 ORPHA:363429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0007256 ORPHA:363429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000508 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000543 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000565 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000571 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000666 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001256 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001263 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001290 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001310 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001510 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001583 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001763 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002075 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002119 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002136 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002355 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002464 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0004322 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0007221 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0007240 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0100275 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001347 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002465 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002828 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0003487 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0006951 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0010864 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001250 ORPHA:363429 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0000238 ORPHA:251912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0002017 ORPHA:251912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0002315 ORPHA:251912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0002354 ORPHA:251912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0002516 ORPHA:251912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0000492 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0000639 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0002131 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0002922 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0030531 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0100543 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0000364 ORPHA:251912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251912 Pineocytoma HP:0002355 ORPHA:251912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0002086 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0002091 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0002094 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0002207 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0002792 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0002875 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0003546 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0006530 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0030874 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0031246 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0031631 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0031944 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0031998 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0032341 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0045051 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0000961 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0001648 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0001708 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0002206 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0002878 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0012418 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0025179 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0030828 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0030849 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0030879 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0031352 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0032016 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0100749 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0100759 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0000969 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0001685 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0030078 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0100001 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0100721 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2302 Asbestos intoxication HP:0100750 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2301 Congenital short bowel syndrome HP:0004322 ORPHA:2301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2301 Congenital short bowel syndrome HP:0005245 ORPHA:2301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2301 Congenital short bowel syndrome HP:0100543 ORPHA:2301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2301 Congenital short bowel syndrome HP:0100578 ORPHA:2301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2301 Congenital short bowel syndrome HP:0100627 ORPHA:2301 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2301 Congenital short bowel syndrome HP:0008070 ORPHA:2301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2301 Congenital short bowel syndrome HP:0002566 ORPHA:2301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2300 Multiple intestinal atresia HP:0001561 ORPHA:2300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2300 Multiple intestinal atresia HP:0100867 ORPHA:2300 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2300 Multiple intestinal atresia HP:0002589 ORPHA:2300 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0000982 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0007446 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0008401 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0008404 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0012514 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0030268 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0002745 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0007410 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0007490 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0007502 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0010765 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0012035 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0025245 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0040036 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0100798 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0200040 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0000695 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0001508 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0001818 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0006288 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0011968 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0025248 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0030766 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0001596 ORPHA:2309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0001609 ORPHA:2309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0002098 ORPHA:2309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2309 Pachyonychia congenita HP:0030318 ORPHA:2309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000003 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000023 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000028 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000126 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000174 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000243 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000256 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000286 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000316 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000319 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000324 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000343 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000348 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000368 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000431 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000463 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000465 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000470 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000482 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000486 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000494 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000508 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000518 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000612 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000625 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000656 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000921 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0000964 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001161 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001249 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001250 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001263 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001274 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001302 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001510 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001511 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001522 ORPHA:2308 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001622 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001629 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001650 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001680 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001734 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001763 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001770 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001831 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001847 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001863 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001873 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0001883 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002007 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002019 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002021 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002059 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002119 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002205 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002247 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002414 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002566 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002650 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0002827 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0003196 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0003312 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0004322 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0004378 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0004383 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0004397 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0005528 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0006101 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0007018 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0007302 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0008872 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0009906 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0010059 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0010761 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0100753 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2308 Jacobsen syndrome HP:0100840 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0000365 ORPHA:2307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0000486 ORPHA:2307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0001387 ORPHA:2307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0002984 ORPHA:2307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0003510 ORPHA:2307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0001199 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0002650 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0002974 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0005048 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0007477 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0009778 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0000143 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0001177 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0001873 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0001974 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0002023 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0006660 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2307 IVIC syndrome HP:0011675 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0008551 ORPHA:2306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0000023 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0000175 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0000238 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0000252 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0000347 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0000384 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0000413 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0000582 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0000932 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0001511 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0001643 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0001647 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0001650 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0001710 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0001713 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0002020 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0000463 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0005120 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0005301 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0008619 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0008774 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0008897 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0011342 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0011718 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0011968 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0012303 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0009892 ORPHA:2306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0001888 ORPHA:2306 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2306 Isotretinoin-like syndrome HP:0002901 ORPHA:2306 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0000175 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0000347 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0000356 ORPHA:2305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0000960 ORPHA:2305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0001252 ORPHA:2305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0001315 ORPHA:2305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0001800 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0003298 ORPHA:2305 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0004422 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0005280 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0008551 ORPHA:2305 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2305 Isotretinoin syndrome HP:0100543 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000200 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000179 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000194 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000218 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000252 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000327 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000348 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000421 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000455 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000490 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000678 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000716 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000718 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000729 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000739 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000750 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0001263 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000817 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000821 ORPHA:293939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000957 ORPHA:293939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0001249 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0004322 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0001643 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0001655 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0001840 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0002099 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0002829 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0002788 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0003265 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0003324 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0003550 ORPHA:293939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0007018 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0008551 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0010862 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0011234 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0011730 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0012169 ORPHA:293939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0012172 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0030051 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0030084 ORPHA:293939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0012724 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0100710 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293939 Distal Xq28 microduplication syndrome HP:0100840 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0001875 ORPHA:70592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0002718 ORPHA:70592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0002721 ORPHA:70592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0005366 ORPHA:70592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0007499 ORPHA:70592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0002848 ORPHA:70593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410299 ORPHA:70593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410300 ORPHA:70593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410302 ORPHA:70593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410303 ORPHA:70593 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0000246 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0000388 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0012384 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0030374 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0031949 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0200117 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0001047 ORPHA:70593 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0002099 ORPHA:70593 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0007274 ORPHA:70593 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0010976 ORPHA:70593 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410240 ORPHA:70593 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410242 ORPHA:70593 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410243 ORPHA:70593 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410295 ORPHA:70593 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0000225 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0000421 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0000978 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0001107 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0001249 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0001276 ORPHA:352723 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0001928 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0002071 ORPHA:352723 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0002205 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0002311 ORPHA:352723 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0002721 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0007513 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0009830 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0100022 ORPHA:352723 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0200042 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000338 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000366 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000508 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000708 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000750 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000975 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001249 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001270 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001324 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001332 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001337 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001347 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0002063 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0002067 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0002329 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0002360 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0002509 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0005968 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0008936 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0010553 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0100543 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000252 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001250 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001510 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001518 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0100021 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000508 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000597 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000639 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001260 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001265 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001336 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001751 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002066 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002151 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002403 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002495 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0003200 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0003434 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0003557 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0003701 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0006858 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0007344 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0008619 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0012696 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0025331 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0031422 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000518 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000716 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001250 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001284 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001644 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002076 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002354 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002578 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0004389 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0100543 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000639 ORPHA:280633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001250 ORPHA:280633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001263 ORPHA:280633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0006829 ORPHA:280633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0011344 ORPHA:280633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000218 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000280 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000486 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001156 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001182 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001265 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001337 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001615 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001655 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001773 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002020 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0004488 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008872 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0010291 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0011247 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0012448 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0200055 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000034 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000072 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000126 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000154 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000160 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000212 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000219 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000269 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000286 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000293 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000308 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000316 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000319 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000350 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000396 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000463 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000470 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000498 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000565 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000582 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000646 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000664 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000774 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000932 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001272 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001347 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001631 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001643 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001667 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001761 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001804 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002015 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002023 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002025 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002079 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002092 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002100 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002119 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002265 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002286 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002305 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002616 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002951 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0003196 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0003324 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0004681 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0004742 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0004969 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0005830 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0006165 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0006254 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0007441 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008551 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008635 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008676 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008718 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008994 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0010282 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0010544 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0010804 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0010880 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0011271 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0011333 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0025025 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0100295 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000218 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000276 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001250 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001270 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001284 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001612 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001618 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001761 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002421 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002515 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002751 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003306 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003325 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003458 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003693 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0009053 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0010307 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001252 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0012801 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0030051 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000308 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000369 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000407 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000565 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000639 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000651 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000768 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001265 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001374 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001388 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001561 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002020 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002392 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002870 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0005943 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0007178 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0025401 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0030208 ORPHA:98914 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000467 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000508 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002015 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002033 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002882 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003473 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003701 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0004661 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0004889 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0011968 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000602 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000961 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001249 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001251 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001283 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001558 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001611 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002205 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002355 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002804 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002872 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003324 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003388 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0004885 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0008443 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0010536 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0011469 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0030842 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0100285 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003324 ORPHA:98915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003403 ORPHA:98915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003701 ORPHA:98915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000467 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000508 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000597 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001252 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001263 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001265 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001488 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001612 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002015 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002033 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002093 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002098 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002421 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002460 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002515 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003198 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003398 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003436 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003443 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003691 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0010628 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0012379 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0030203 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000218 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001249 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001284 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001324 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002643 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002650 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002783 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002791 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002815 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003202 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003327 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003388 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003803 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0005216 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0007941 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0010535 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0030211 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000207 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000303 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001667 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001762 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001999 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002092 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002359 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002875 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003554 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0006251 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0030237 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0007131 ORPHA:98916 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0001265 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0001290 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0001954 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0002307 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0002317 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0003445 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0005335 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0009053 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0012534 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0031162 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0003383 ORPHA:98916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0002066 ORPHA:98916 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0001265 ORPHA:98911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0002355 ORPHA:98911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0009063 ORPHA:98911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0009830 ORPHA:98911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0030226 ORPHA:98911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0001260 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0001611 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0002828 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0003236 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0003458 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0003552 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0003693 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0006794 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0001638 ORPHA:98911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98911 Distal myotilinopathy HP:0009073 ORPHA:98911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0030198 ORPHA:98912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0031374 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0031189 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009073 ORPHA:98912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0002505 ORPHA:98912 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0001638 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009830 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0001626 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0008969 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0001288 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009027 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0011808 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009072 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009005 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009077 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0003324 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0002505 ORPHA:98912 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0008954 ORPHA:98912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0003325 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0008997 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0005162 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0012722 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0001324 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000218 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000496 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000508 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000597 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0001315 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0001446 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003202 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003388 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003402 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003403 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003443 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003458 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003484 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003547 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003722 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003803 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0009005 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0010628 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0030199 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0410011 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000651 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000961 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002091 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002194 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002329 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002650 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002792 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002875 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002878 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0005659 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0009077 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0012515 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0012764 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0030196 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0031108 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0031374 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000179 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000252 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000294 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000341 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000368 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000463 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000486 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000527 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000574 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001007 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001263 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001274 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001276 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001320 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001344 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001510 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0002470 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0002509 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0002553 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0010864 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0011451 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0100540 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0002465 ORPHA:466688 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type HP:0007390 ORPHA:86923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type HP:0007447 ORPHA:86923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0012240 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0012472 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0040081 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001413 ORPHA:98907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0007009 ORPHA:98907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001513 ORPHA:98907 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001946 ORPHA:98907 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0007479 ORPHA:98907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0009073 ORPHA:98907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000385 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000407 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000486 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000508 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000523 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000639 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000656 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001251 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001263 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001284 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001397 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001596 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001638 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001911 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0002155 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0002240 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0002355 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0002910 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0002922 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0003198 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0003458 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0003547 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0004322 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0003547 ORPHA:98908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0009073 ORPHA:98908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0012240 ORPHA:98908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0012548 ORPHA:98908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0001270 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0001290 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0001397 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0001638 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0002155 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0002355 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0002380 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0002910 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0003198 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0003326 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0003388 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0003391 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0003749 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0008167 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0009046 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0025435 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0040081 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0000407 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0000467 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0000819 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0001256 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0001284 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0001635 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0002240 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0003805 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0004322 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0006280 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0009027 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0009055 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0009063 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0030237 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0001082 ORPHA:98908 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0012683 ORPHA:98908 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0001513 ORPHA:98908 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98908 Neutral lipid storage myopathy HP:0008064 ORPHA:98908 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0009053 ORPHA:98909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0003722 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0030319 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0005157 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0001635 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0001678 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0005115 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0002505 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0002747 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0003323 ORPHA:98909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0002355 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0030192 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0030196 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0001645 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0002522 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0003327 ORPHA:98909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0005659 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98909 Desminopathy HP:0003306 ORPHA:98909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0002094 ORPHA:70578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0002113 ORPHA:70578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0012415 ORPHA:70578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0012418 ORPHA:70578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0030782 ORPHA:70578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0001942 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0002615 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0002878 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0011118 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0030783 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0031273 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0100598 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0100806 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0002090 ORPHA:70578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0001733 ORPHA:70578 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0001953 ORPHA:70578 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70578 Adult acute respiratory distress syndrome HP:0002633 ORPHA:70578 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000544 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001270 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001290 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001324 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001558 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002058 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002795 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003327 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003557 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003560 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003701 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003803 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0009025 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0010628 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0011805 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0011807 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0011968 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0031237 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0100293 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000028 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000046 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000054 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000218 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000275 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000508 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000969 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001349 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001371 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001388 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001561 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002090 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002205 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002650 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002878 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003202 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003547 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003798 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0008850 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0009046 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0010804 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0011399 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0012036 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0031139 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0040191 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001528 ORPHA:293964 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0000771 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001325 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001520 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001956 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001958 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001985 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001998 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0002173 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0006568 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0030812 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0040214 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0002960 ORPHA:293964 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0030781 ORPHA:293964 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0011505 ORPHA:411527 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0030497 ORPHA:411527 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0031805 ORPHA:411527 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0000572 ORPHA:411527 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0001085 ORPHA:411527 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0012841 ORPHA:411527 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0040049 ORPHA:411527 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0000501 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0000580 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0000608 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0000622 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0001129 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0004328 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0007984 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0030666 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411527 Central retinal vein occlusion HP:0100014 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000130 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000160 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000238 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000256 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000271 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000308 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000316 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000368 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000463 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000478 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0000504 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0001249 ORPHA:59315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0001251 ORPHA:59315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0001626 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0002023 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0002032 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0002119 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0002251 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0002335 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0002575 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0003196 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0006101 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0006899 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0009803 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0009943 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0010442 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0010664 ORPHA:59315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0012210 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0100321 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:59315 Rhombencephalosynapsis HP:0100842 ORPHA:59315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0000768 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0001270 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0001319 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0001337 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0003044 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0003273 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0003323 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0003458 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0003803 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0007126 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0002747 ORPHA:98902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98902 Amish nemaline myopathy HP:0001249 ORPHA:98902 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0001004 ORPHA:90186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0000987 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0001581 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0002732 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0002849 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0003550 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0005406 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0010741 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0010781 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0031288 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0100658 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0200041 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0000282 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0002202 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0002619 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0007514 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0012027 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0012398 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0100539 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0200042 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90186 Meige disease HP:0200058 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0002027 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0012547 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0031416 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0004360 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001919 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001735 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0011675 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001251 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0000622 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0011710 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0031546 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0030149 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0025143 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001635 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0002014 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001260 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0100660 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0000969 ORPHA:466677 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0031956 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0010783 ORPHA:466677 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0003781 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001945 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0003076 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0010828 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0003074 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0000975 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0002487 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001347 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0000822 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0002900 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0031185 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0032232 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0025435 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0410173 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0002919 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0000616 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0005967 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0011499 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0012819 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001336 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0012531 ORPHA:466677 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0003401 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0200023 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0025072 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0100598 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0000979 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001950 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0000711 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0003201 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0012250 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001250 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001297 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0010872 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001649 ORPHA:466677 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0002789 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0001337 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0006682 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466677 Scorpion envenomation HP:0002013 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome HP:0001063 ORPHA:86918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome HP:0007447 ORPHA:86918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000852 ORPHA:280651 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000028 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000047 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000272 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000303 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000311 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000463 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000750 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000851 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001156 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001249 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001263 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001328 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001511 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001831 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002516 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002901 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002905 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0003165 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0003528 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0004646 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0005280 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0005305 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0005453 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0005616 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0008450 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0008479 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0008497 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0009803 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0010049 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0010579 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0010743 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0011800 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000135 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000717 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000752 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000819 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000824 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001513 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002650 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0003416 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0003502 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000635 ORPHA:280651 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002286 ORPHA:280651 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002297 ORPHA:280651 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0003456 ORPHA:280651 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:86919 Keratosis palmaris et plantaris-clinodactyly syndrome HP:0000975 ORPHA:86919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86919 Keratosis palmaris et plantaris-clinodactyly syndrome HP:0004209 ORPHA:86919 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:86919 Keratosis palmaris et plantaris-clinodactyly syndrome HP:0007447 ORPHA:86919 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001635 ORPHA:70591 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002092 ORPHA:70591 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0005317 ORPHA:70591 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001962 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002204 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002625 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002792 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002875 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0012378 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0030877 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0000716 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0000969 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001279 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001513 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001693 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001708 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001871 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002960 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0003613 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0004831 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0005133 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0005135 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0005162 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0010536 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0011227 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0011712 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0011901 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0012146 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0012184 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0012417 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0025343 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0030718 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0030977 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002037 ORPHA:70591 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002664 ORPHA:70591 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002754 ORPHA:70591 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0005547 ORPHA:70591 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000256 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000733 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000739 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000750 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001249 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001963 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0002007 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0031936 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000218 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000303 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000308 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000431 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000494 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000729 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001250 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001252 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001363 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001433 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0004209 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0006532 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0010845 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0011220 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0030799 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0045025 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0100540 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0100716 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169095 Severe combined immunodeficiency due to FOXN1 deficiency HP:0001803 ORPHA:169095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169095 Severe combined immunodeficiency due to FOXN1 deficiency HP:0001807 ORPHA:169095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169095 Severe combined immunodeficiency due to FOXN1 deficiency HP:0002721 ORPHA:169095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169095 Severe combined immunodeficiency due to FOXN1 deficiency HP:0005403 ORPHA:169095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169095 Severe combined immunodeficiency due to FOXN1 deficiency HP:0005597 ORPHA:169095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0000389 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0000705 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001252 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001287 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001945 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002090 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002718 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002721 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002841 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002960 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0003198 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0004429 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0007676 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0011084 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0011274 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0100806 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0000970 ORPHA:169090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001744 ORPHA:169090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002240 ORPHA:169090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002716 ORPHA:169090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001873 ORPHA:169090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001878 ORPHA:169090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002664 ORPHA:169090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000154 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000256 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000293 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000347 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000455 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000483 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000490 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000504 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000545 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000582 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000708 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000718 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000729 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000742 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0000750 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0001249 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0001256 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0001263 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0001382 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0001513 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0003196 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0100716 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0100738 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0100962 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293948 1p21.3 microdeletion syndrome HP:0400004 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48686 Primary effusion lymphoma HP:0001698 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48686 Primary effusion lymphoma HP:0002027 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48686 Primary effusion lymphoma HP:0002094 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48686 Primary effusion lymphoma HP:0002202 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48686 Primary effusion lymphoma HP:0002585 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48686 Primary effusion lymphoma HP:0002721 ORPHA:48686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48686 Primary effusion lymphoma HP:0003270 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48686 Primary effusion lymphoma HP:0012191 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000047 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000068 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000076 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000126 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000175 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000202 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000217 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000359 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000370 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000407 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000453 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000491 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000498 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0045075 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000574 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000613 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000621 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000632 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000670 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000679 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000682 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000691 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000778 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000824 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000830 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000958 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000962 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0001171 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0001249 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0001770 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0001803 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0001839 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0002208 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0002213 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0002217 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0002665 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0003764 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0004322 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0006101 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0006709 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0007513 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0008065 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0008404 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0008572 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0008678 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0009601 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0009623 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0009804 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0010311 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0100257 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0200020 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0000966 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1896 EEC syndrome HP:0100533 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0000160 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0000233 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0000238 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0000347 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0000369 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0000453 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0000463 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0000664 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0001007 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0001088 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0001238 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0001249 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0001250 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0001276 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0001387 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0001508 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0001608 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0002007 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0002093 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0002162 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0002230 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0002269 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0002714 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0003196 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0005616 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0008056 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0009465 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1895 Edinburgh malformation syndrome HP:0100807 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0001156 ORPHA:1892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0001162 ORPHA:1892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0005916 ORPHA:1892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0006101 ORPHA:1892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0009773 ORPHA:1892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0100257 ORPHA:1892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0100490 ORPHA:1892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0001518 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0001622 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0002088 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0002094 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0002097 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0002098 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0004887 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0006528 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0012419 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0012735 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0001667 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0001708 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0002360 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0002795 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0002871 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0003546 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0006597 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0012252 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0030828 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0002786 ORPHA:70589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0100632 ORPHA:70589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70589 Bronchopulmonary dysplasia HP:0100750 ORPHA:70589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0001249 ORPHA:1891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0001257 ORPHA:1891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0001258 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0001347 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0002817 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0003272 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0004209 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0006101 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0007598 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0000154 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0000687 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0001010 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0001250 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0001256 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0001513 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0002353 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0002395 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0004485 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0005484 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0005599 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0007730 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0008947 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0040082 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0040196 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0000303 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0000486 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0000748 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0001251 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0001263 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0002015 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0002033 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0002046 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0002136 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0002141 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0002167 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0002307 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0005469 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0010808 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0011968 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0100022 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0100023 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0100703 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411511 Angelman syndrome due to a point mutation HP:0100738 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0001905 ORPHA:182050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0000083 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0000093 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0000112 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0000123 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0000132 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0000407 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0000978 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0001902 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0002910 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0003010 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0004406 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0007819 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0008264 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0011877 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:182050 MYH9-related disease HP:0001658 ORPHA:182050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000748 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001010 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001250 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001513 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001999 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0002353 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0002591 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0005599 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0007730 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0008872 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0008947 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0031936 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0040082 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000154 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000303 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000708 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000710 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000736 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000752 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001251 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001344 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0002136 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0002307 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0002465 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0004485 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0006979 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0410263 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0012418 ORPHA:70587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0000765 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0000961 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0001622 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0002789 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0002878 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0030863 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0100598 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0100750 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0001649 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0001662 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0001695 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0002090 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0002615 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0011947 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70587 Infant acute respiratory distress syndrome HP:0100806 ORPHA:70587 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0002098 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0005828 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0011410 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0025116 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0031169 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0031860 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0031983 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0001511 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0001788 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0002092 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0002107 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0009800 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0011951 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0012418 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0012420 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0012768 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0025421 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0030828 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0100750 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0001298 ORPHA:70588 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:70588 Meconium aspiration syndrome HP:0010444 ORPHA:70588 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000963 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000974 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0001001 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0001252 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0001373 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0001385 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0001387 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002300 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002381 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002381 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002673 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002812 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002827 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0003510 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0005692 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0005743 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0010529 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0010547 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0100699 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000278 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000286 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000316 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000347 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002650 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0005280 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000023 ORPHA:1899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0100541 ORPHA:1899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0000613 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0000635 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0000639 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0000649 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0000992 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0007513 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0007663 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0007680 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0007730 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0007750 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0011358 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0012805 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0025551 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0025568 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0000486 ORPHA:352731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0000646 ORPHA:352731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0002226 ORPHA:352731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0002227 ORPHA:352731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0001072 ORPHA:352731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0008069 ORPHA:352731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:352731 Oculocutaneous albinism type 1 HP:0025127 ORPHA:352731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0000486 ORPHA:1897 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0000488 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0000504 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0000670 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0000687 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0001592 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0002223 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0002231 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0006101 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0006482 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0007703 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0007754 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0100257 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0000478 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0000691 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1897 EEM syndrome HP:0002209 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007020 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0000252 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0008848 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0001256 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0008376 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0002194 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0002191 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0002395 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0011448 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0003487 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0000175 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0000193 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0030625 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007814 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007199 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0004302 ORPHA:506353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0030182 ORPHA:506353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007220 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0001250 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007768 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007663 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0002493 ORPHA:506353 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0000975 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0000989 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0001251 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0001744 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0001824 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0001871 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0001945 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0002039 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0002094 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0002105 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0002240 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0002315 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0002653 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0002664 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0002665 ORPHA:98293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0002716 ORPHA:98293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0002721 ORPHA:98293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0009830 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0012378 ORPHA:98293 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0012735 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98293 Hodgkin lymphoma HP:0100749 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000179 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000272 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000337 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000414 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001263 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001999 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000307 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000324 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000358 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000486 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000494 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000629 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000708 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000750 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001252 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001256 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001511 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0002342 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0008872 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0011339 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0011471 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0031936 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0200136 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000028 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000074 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000126 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000164 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000218 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000268 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000297 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000347 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000369 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000483 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000506 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000508 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000540 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000717 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000729 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000739 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000821 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000824 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0000974 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001274 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001332 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001337 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001344 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001363 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001518 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001655 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001822 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0001852 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0002032 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0002079 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0002119 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0002171 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0002236 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0002500 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0002515 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0002719 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0003006 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0003187 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0005684 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0006094 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0007018 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0007678 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0008944 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0010316 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0010499 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0010864 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0011311 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0011344 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0012448 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506358 Gabriele-de Vries syndrome HP:0045075 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0000403 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0000651 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001263 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0000824 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0008163 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001045 ORPHA:293978 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001325 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001508 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001596 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001973 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001988 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002110 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002121 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002153 ORPHA:293978 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002615 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002788 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002837 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0005365 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002902 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002920 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0003765 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0004313 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0004429 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0006532 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0007418 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0008404 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0011108 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0011735 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0004332 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0012378 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0012504 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0030057 ORPHA:293978 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0030349 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0030353 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0100646 ORPHA:293978 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0100776 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0100803 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0100806 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0000939 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0000989 ORPHA:98292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0001000 ORPHA:98292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0001025 ORPHA:98292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0001744 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0002014 ORPHA:98292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0002017 ORPHA:98292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0002039 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0002093 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0002099 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0002239 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0002240 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0002488 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0002615 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0002757 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0003072 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0005558 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0008066 ORPHA:98292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0010829 ORPHA:98292 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0011675 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0012378 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0012733 ORPHA:98292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0012735 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0100242 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0100326 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0100495 ORPHA:98292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0100585 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98292 Mastocytosis HP:0100665 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000122 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000482 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000543 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002135 ORPHA:90324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002446 ORPHA:90324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002461 ORPHA:90324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0007346 ORPHA:90324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0012447 ORPHA:90324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000011 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000992 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001256 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001284 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001347 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002080 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002317 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002355 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0003134 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0003202 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0003477 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0004302 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0004934 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0005181 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0007108 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0008615 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0009830 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0012444 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0012762 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000016 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000072 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000083 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000126 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000253 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000331 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000400 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000405 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000460 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000486 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000490 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000518 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000540 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000613 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000639 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000670 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001250 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001530 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001999 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002020 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002216 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002240 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002344 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002650 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002808 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002910 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0006297 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0011359 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0011968 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0012758 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0032263 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0100543 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000089 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000546 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000556 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000568 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0000573 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001097 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001105 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001297 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001371 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001638 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0001744 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0002616 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0011527 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0012804 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90324 Cockayne syndrome type 3 HP:0100309 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000256 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000316 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000407 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000463 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000633 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000709 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000712 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000716 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000718 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000722 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000729 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000735 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000739 ORPHA:293987 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001263 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000805 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000823 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000824 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000863 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000864 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000870 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000961 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000966 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001156 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001250 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001290 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0004322 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001513 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001945 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001959 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002045 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002099 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002153 ORPHA:293987 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002342 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002376 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002383 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002418 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0012332 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002579 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002591 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002608 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002650 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000232 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002783 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002788 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002791 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002870 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002902 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002910 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0003005 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0003074 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0003077 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0005280 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0005616 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0006543 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0006747 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0007110 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0007328 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0007695 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0008213 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0011220 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0011748 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0011787 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0011968 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0012412 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0012704 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0030050 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0100716 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000750 ORPHA:436151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0001270 ORPHA:436151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0001999 ORPHA:436151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000752 ORPHA:436151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0001256 ORPHA:436151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0002300 ORPHA:436151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0002353 ORPHA:436151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0012433 ORPHA:436151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000276 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000369 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000957 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0001250 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0002187 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0002342 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0002546 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0010864 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000276 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000303 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000505 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000518 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000633 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000648 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000822 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000966 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001251 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001288 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001337 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001347 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0002014 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0002172 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0002355 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0002650 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0003134 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0003138 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0004370 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0005328 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000083 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000331 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000400 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000486 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000509 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000528 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000554 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000613 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000639 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000674 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000680 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001034 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001250 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001252 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001903 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0002061 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0002240 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0002360 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0006297 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0006313 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0006334 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0100699 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000026 ORPHA:90321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000028 ORPHA:90321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000365 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000490 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000580 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000992 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001249 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001508 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0001999 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0002135 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0002910 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0004463 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0008366 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0008897 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000093 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90321 Cockayne syndrome type 1 HP:0000164 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0001249 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0001511 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0001999 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0002545 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0007346 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0012758 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000276 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000303 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0001251 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0001288 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0002172 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0002355 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0005328 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000331 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000365 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000400 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000486 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000505 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000509 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000519 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000528 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000554 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000613 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000639 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000674 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000680 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0001034 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0001371 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0002061 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0002240 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0002509 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0002650 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0002808 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0006297 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0006313 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0006334 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0008872 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0008936 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0100699 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000026 ORPHA:90322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90322 Cockayne syndrome type 2 HP:0000028 ORPHA:90322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0001945 ORPHA:454836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0003326 ORPHA:454836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0012378 ORPHA:454836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0012735 ORPHA:454836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0025439 ORPHA:454836 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0001873 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0001882 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0001888 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002113 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002315 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0011227 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0012418 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0025179 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0031246 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0000509 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002013 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002014 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002027 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002090 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002094 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002202 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002878 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0005268 ORPHA:454836 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0025435 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0031245 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0100749 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0001287 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0001635 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0001919 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002098 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002107 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002383 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002789 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0002910 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0003073 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0003201 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0003236 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0005521 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0012115 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0012486 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454836 Avian influenza HP:0100806 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001954 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002019 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002046 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002079 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002263 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002558 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002572 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002578 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002579 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002705 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002877 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0003186 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0003388 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0003422 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0004389 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0004442 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0004443 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0004467 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0004942 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0005487 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0006481 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0007328 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0007655 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0008872 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0009794 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0009804 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0010297 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0010807 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0011147 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0011330 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0011470 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0011807 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0100259 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000637 ORPHA:453504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001252 ORPHA:453504 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000028 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000076 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000126 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000158 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000194 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000252 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000276 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000431 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000455 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000689 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001363 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001385 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001510 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001627 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001629 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002282 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002342 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002465 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002540 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002650 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002711 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002714 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0003763 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0010864 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0010880 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0031936 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000175 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000193 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000280 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000405 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000407 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000411 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000430 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000476 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000508 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000540 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000545 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000586 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000587 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000589 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000609 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000821 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000938 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000975 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001250 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001274 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001284 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001315 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001324 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001388 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001548 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001631 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001647 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001762 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001763 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0000980 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0001324 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0001744 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0001878 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0002014 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0002017 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0002240 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0002315 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0002716 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0002829 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0002960 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0003418 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0012086 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:56425 Cold agglutinin disease HP:0012378 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000657 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001290 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001321 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001508 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002007 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002119 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002419 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002789 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0004719 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0011933 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000047 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000083 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000110 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000286 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000316 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000347 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000368 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000369 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000396 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000545 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000556 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000572 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000773 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000803 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000890 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001156 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001263 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001273 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001305 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001317 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001320 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001331 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001344 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001591 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002020 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002085 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002100 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002104 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002134 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002195 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002205 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002280 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002435 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002516 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002558 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002910 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0003170 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0003411 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0004322 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0004629 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0004991 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0005257 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0005280 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0005989 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0006528 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0006610 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0006668 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0006711 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0006956 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0007082 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0008445 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0008797 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0009921 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0010013 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0010579 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0011927 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0011968 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0012106 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0012795 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0030048 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0031528 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0100259 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0100954 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0033978 ORPHA:309162 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0001251 ORPHA:309162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0001260 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0001272 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0001288 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0001508 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0002311 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0003202 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0003701 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0007256 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0100543 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0000020 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0001250 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0002014 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0002015 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0002019 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0002059 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0002071 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0002380 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0002460 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0003121 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0031006 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0100785 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0000729 ORPHA:309162 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0001761 ORPHA:309162 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309162 Sandhoff disease, juvenile form HP:0100786 ORPHA:309162 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000028 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000044 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000054 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000193 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000252 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000316 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000347 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000411 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000444 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000545 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001263 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000771 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000786 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000823 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000831 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000912 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001007 ORPHA:293967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001123 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001250 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001270 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001276 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001328 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0004322 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001562 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001761 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001845 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001935 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0002061 ORPHA:293967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0002553 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0002750 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0002857 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0010055 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0008527 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0009185 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0003799 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0006353 ORPHA:293967 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0007266 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0007642 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0008734 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0008850 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0011246 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0011304 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0011343 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0011408 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0011968 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0012795 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0100689 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0033978 ORPHA:309169 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0001257 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0001260 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0001268 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0001337 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0002015 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0002066 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0003390 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0003484 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0008994 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0000739 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0001315 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0001332 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0002380 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0003236 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0003394 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0004373 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0025268 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309169 Sandhoff disease, adult form HP:0100295 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69744 Circumscribed palmoplantar hypokeratosis HP:0001227 ORPHA:69744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69744 Circumscribed palmoplantar hypokeratosis HP:0010486 ORPHA:69744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69744 Circumscribed palmoplantar hypokeratosis HP:0011121 ORPHA:69744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69744 Circumscribed palmoplantar hypokeratosis HP:0100872 ORPHA:69744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69744 Circumscribed palmoplantar hypokeratosis HP:0200035 ORPHA:69744 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1995 Cleft lip-retinopathy syndrome HP:0000488 ORPHA:1995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1995 Cleft lip-retinopathy syndrome HP:0000505 ORPHA:1995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1995 Cleft lip-retinopathy syndrome HP:0007703 ORPHA:1995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1995 Cleft lip-retinopathy syndrome HP:0100335 ORPHA:1995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69736 Bilateral acute depigmentation of the iris HP:0007990 ORPHA:69736 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:69736 Bilateral acute depigmentation of the iris HP:0008034 ORPHA:69736 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:69736 Bilateral acute depigmentation of the iris HP:0000593 ORPHA:69736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69736 Bilateral acute depigmentation of the iris HP:0000613 ORPHA:69736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69736 Bilateral acute depigmentation of the iris HP:0011488 ORPHA:69736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69736 Bilateral acute depigmentation of the iris HP:0012372 ORPHA:69736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69736 Bilateral acute depigmentation of the iris HP:0200026 ORPHA:69736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69736 Bilateral acute depigmentation of the iris HP:0002788 ORPHA:69736 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69736 Bilateral acute depigmentation of the iris HP:0012631 ORPHA:69736 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69736 Bilateral acute depigmentation of the iris HP:0012634 ORPHA:69736 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0000161 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0000175 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0000190 ORPHA:1993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0000193 ORPHA:1993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0000316 ORPHA:1993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0000494 ORPHA:1993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0000506 ORPHA:1993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0000612 ORPHA:1993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0001482 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0002084 ORPHA:1993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0004122 ORPHA:1993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0005280 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0006866 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0007370 ORPHA:1993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0010609 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1993 Pai syndrome HP:0100582 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome HP:0001511 ORPHA:436144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome HP:0004322 ORPHA:436144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome HP:0008734 ORPHA:436144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0000561 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0001596 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0002209 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0002223 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0002231 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0003550 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0100763 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0100869 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0100870 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0000034 ORPHA:69735 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0000965 ORPHA:69735 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0100540 ORPHA:69735 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0001541 ORPHA:69735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0001789 ORPHA:69735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0002202 ORPHA:69735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0004334 ORPHA:69735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1991 Cleft lip with or without cleft palate HP:0100335 ORPHA:1991 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1991 Cleft lip with or without cleft palate HP:0000365 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1991 Cleft lip with or without cleft palate HP:0000403 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1991 Cleft lip with or without cleft palate HP:0001328 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1991 Cleft lip with or without cleft palate HP:0011109 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1991 Cleft lip with or without cleft palate HP:0011968 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1991 Cleft lip with or without cleft palate HP:0100338 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1991 Cleft lip with or without cleft palate HP:0410031 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1991 Cleft lip with or without cleft palate HP:0000161 ORPHA:1991 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1991 Cleft lip with or without cleft palate HP:0008501 ORPHA:1991 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0000280 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0000486 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0001252 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0002857 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0003028 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0006094 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0010864 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0001513 ORPHA:436141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0001250 ORPHA:436141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0001288 ORPHA:436141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0002360 ORPHA:436141 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31112 Dermatofibrosarcoma protuberans HP:0001072 ORPHA:31112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31112 Dermatofibrosarcoma protuberans HP:0001482 ORPHA:31112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31112 Dermatofibrosarcoma protuberans HP:0008069 ORPHA:31112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31112 Dermatofibrosarcoma protuberans HP:0010783 ORPHA:31112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31112 Dermatofibrosarcoma protuberans HP:0100244 ORPHA:31112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31112 Dermatofibrosarcoma protuberans HP:0200042 ORPHA:31112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000280 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000750 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002194 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0007360 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0010862 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0010864 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0011344 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000158 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000407 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000639 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000729 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001251 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001252 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001344 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002007 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002136 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002751 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0004482 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0011842 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0100540 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000218 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000289 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000293 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000307 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000343 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000350 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000431 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000506 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000678 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000768 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001156 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001250 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001257 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001265 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001433 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001631 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001643 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001762 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002002 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002186 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002219 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002500 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002684 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0003487 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0005280 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0006951 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0008443 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0010471 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0012110 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0012385 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0012471 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0012745 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0012810 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0030084 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000316 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000405 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000478 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000492 ORPHA:1997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000504 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000670 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000698 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0002023 ORPHA:1997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0002744 ORPHA:1997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0006101 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0007651 ORPHA:1997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0009743 ORPHA:1997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0011362 ORPHA:1997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0012905 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0200040 ORPHA:1997 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0002451 ORPHA:210571 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0000473 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0001260 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0001300 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0001347 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0001618 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0002015 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0002067 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0002174 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0002310 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0002317 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0007256 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0012514 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0001270 ORPHA:210571 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210571 Dystonia 16 HP:0001249 ORPHA:210571 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0033978 ORPHA:309155 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0001250 ORPHA:309155 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0001347 ORPHA:309155 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0002376 ORPHA:309155 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0009062 ORPHA:309155 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0012758 ORPHA:309155 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0001257 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0001336 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0002069 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0002120 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0002267 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0003429 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0004481 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0007083 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0010729 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0012696 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0032794 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0000280 ORPHA:309155 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0001433 ORPHA:309155 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0001653 ORPHA:309155 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0010780 ORPHA:309155 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0100814 ORPHA:309155 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309155 Sandhoff disease, infantile form HP:0001634 ORPHA:309155 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000105 ORPHA:90301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000147 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000831 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000845 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000855 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000956 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0001007 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0003394 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0008675 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0002270 ORPHA:43116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0000711 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0000737 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0000739 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001268 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001289 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001336 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001337 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001649 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0002014 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0002018 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0100785 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0000570 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0000713 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0000822 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0000975 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001250 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001347 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0002169 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0002789 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0003128 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0011499 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0032044 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0000738 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001259 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001276 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001399 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001919 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0001945 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0002063 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0002615 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0003201 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0005521 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:43116 Serotonin syndrome HP:0031258 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0000252 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0001250 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0001392 ORPHA:1980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0001511 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0001873 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0001933 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0002119 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0002240 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0002269 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0002514 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0007957 ORPHA:1980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000160 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000399 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000407 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000408 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000518 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000574 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000519 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000824 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0001270 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002827 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0004322 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002571 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002650 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002652 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002655 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002857 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0009830 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0003162 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0003416 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0005659 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0007470 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0008445 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0008619 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0011220 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0002814 ORPHA:90307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0100026 ORPHA:90307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0001722 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0002617 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0002619 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0004947 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0004948 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0007394 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0008968 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0012721 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0025104 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0025474 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0032555 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0100553 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0100784 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0000016 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0000079 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0000100 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0001892 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0002138 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0002196 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0002315 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0002390 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0002408 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0002817 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0002936 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0003418 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0003474 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0005521 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0006489 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0007340 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0010484 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0012514 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0012531 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0030833 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0031138 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0031939 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0040189 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0100749 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0100766 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0100775 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0200042 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0007461 ORPHA:90307 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90307 Parkes Weber syndrome HP:0010550 ORPHA:90307 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0000098 ORPHA:90308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0000140 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0000252 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0000256 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0000790 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0000929 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0000969 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0001028 ORPHA:90308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0001249 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0001541 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0001631 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0001635 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0001643 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0001702 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0001789 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0001935 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0002093 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0002204 ORPHA:90308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0002239 ORPHA:90308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0002240 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0003010 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0004414 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0004936 ORPHA:90308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0005293 ORPHA:90308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0011029 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0011842 ORPHA:90308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0100559 ORPHA:90308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0100560 ORPHA:90308 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0100658 ORPHA:90308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0100724 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90308 Klippel-Trénaunay syndrome HP:0100784 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31142 Oral erosive lichen HP:0000155 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31142 Oral erosive lichen HP:0000958 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31142 Oral erosive lichen HP:0008066 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31142 Oral erosive lichen HP:0010783 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31142 Oral erosive lichen HP:0100725 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31142 Oral erosive lichen HP:0100825 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0011834 ORPHA:280679 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000027 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000278 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000316 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000343 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000518 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000707 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000815 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000822 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000823 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001342 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001644 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001999 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0002140 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0002216 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0004302 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0004322 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0007970 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000369 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000445 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000454 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000490 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000824 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001263 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001324 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001677 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0008734 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53372 Hereditary geniospasm HP:0012462 ORPHA:53372 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:53372 Hereditary geniospasm HP:3000007 ORPHA:53372 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53372 Hereditary geniospasm HP:0000178 ORPHA:53372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53372 Hereditary geniospasm HP:0012433 ORPHA:53372 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53372 Hereditary geniospasm HP:0002080 ORPHA:53372 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:53372 Hereditary geniospasm HP:0002353 ORPHA:53372 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:53372 Hereditary geniospasm HP:0003457 ORPHA:53372 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000023 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000028 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000040 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000113 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000175 ORPHA:1988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000202 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000219 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000343 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000347 ORPHA:1988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000369 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000486 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000582 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000772 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000902 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0000912 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0001385 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0001762 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0001841 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0002119 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0030680 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0002644 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0002650 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0002812 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0002974 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0002991 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0003097 ORPHA:1988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0003196 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0003422 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0004322 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0005107 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0005772 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0007370 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0008551 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0008678 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0009800 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1988 Femoral-facial syndrome HP:0100542 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1986 Gollop-Wolfgang complex HP:0004058 ORPHA:1986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1986 Gollop-Wolfgang complex HP:0005772 ORPHA:1986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1986 Gollop-Wolfgang complex HP:0006495 ORPHA:1986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1986 Gollop-Wolfgang complex HP:0010443 ORPHA:1986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1986 Gollop-Wolfgang complex HP:0100257 ORPHA:1986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000122 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000286 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000347 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000358 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000396 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000470 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000581 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000592 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000601 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000767 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0000921 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0001177 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0001508 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0001511 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0002092 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0002206 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0002643 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0002650 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0002937 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0004322 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0005950 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0005988 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0006610 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52047 Braddock syndrome HP:0010720 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000028 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000047 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000218 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000233 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000252 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000286 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000293 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000347 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000348 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000369 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000426 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000431 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000470 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000486 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000490 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000494 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000582 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000708 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0000776 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001182 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001250 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001256 ORPHA:251071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001263 ORPHA:251071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001510 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001511 ORPHA:251071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001513 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001636 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001639 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001643 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001669 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001671 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001679 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001763 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0001824 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0002465 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0030680 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0003196 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0004322 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0004383 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0004415 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0004422 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0006610 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0006695 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0007018 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0008572 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0009623 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0010059 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0011304 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251071 8p23.1 microdeletion syndrome HP:0100625 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0001770 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0004209 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0004279 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0004691 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0005048 ORPHA:157801 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0006101 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0008362 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0009701 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0009773 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0009778 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0009843 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0010109 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0000085 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0000160 ORPHA:1973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0000175 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0000316 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0000319 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0000411 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0000430 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0000431 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0000668 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0001249 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0001357 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0001508 ORPHA:1973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0001704 ORPHA:1973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1973 Faciocardiorenal syndrome HP:0001706 ORPHA:1973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0000160 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0000171 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0000308 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0001511 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0001643 ORPHA:1972 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0001852 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0002984 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0003022 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0003038 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0004059 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0004383 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0005736 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0007598 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0009237 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0009778 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000028 ORPHA:1970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000046 ORPHA:1970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000164 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000174 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000256 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000280 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000286 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000337 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000348 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000368 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000431 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000545 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000574 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000639 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000648 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000664 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001007 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001099 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001250 ORPHA:1970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001252 ORPHA:1970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001276 ORPHA:1970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001305 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001821 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0002650 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0004374 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0006887 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0009882 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0010864 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0011039 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0000045 ORPHA:457083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0012741 ORPHA:457083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0032404 ORPHA:457083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0000023 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0000034 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0001748 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0008689 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0009714 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0010452 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0000036 ORPHA:457083 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0000837 ORPHA:457083 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0006254 ORPHA:457083 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:457083 Isolated splenogonadal fusion HP:0045040 ORPHA:457083 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001298 ORPHA:442835 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000750 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001249 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001250 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001263 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001265 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001290 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001508 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002376 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0010844 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0011443 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000252 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000348 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000494 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000508 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000639 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000668 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000708 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000717 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001251 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001257 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001268 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001273 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001315 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001336 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001337 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001558 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002020 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002059 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002063 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002317 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002355 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002421 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002521 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0004305 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0004322 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0007018 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0011968 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0012444 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0012447 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0100660 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0100710 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000504 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000546 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000648 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002133 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002509 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0012547 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000160 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000271 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000347 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000444 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000765 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000767 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000982 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001000 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0003758 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001072 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001371 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001387 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001595 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001763 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001824 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0002216 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0002621 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0002814 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0002817 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0003119 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0004326 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0004349 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0008065 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0009125 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0010980 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0100578 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0100651 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0100679 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0000126 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0000316 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0000343 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0000365 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0000445 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0000490 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0000846 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0001249 ORPHA:251076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0001263 ORPHA:251076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0001629 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0001636 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0001642 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0001770 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0002463 ORPHA:251076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0002553 ORPHA:251076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0030680 ORPHA:251076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0012471 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251076 8p23.1 duplication syndrome HP:0100777 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0000272 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001028 ORPHA:52056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001156 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001510 ORPHA:52056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001631 ORPHA:52056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001762 ORPHA:52056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001773 ORPHA:52056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0004322 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0006210 ORPHA:52056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0006492 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0006495 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0009237 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0002073 ORPHA:247815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0007002 ORPHA:247815 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0001256 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0001260 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0002070 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0002078 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0007240 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0007256 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0007772 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0008167 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0010965 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0100275 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0001347 ORPHA:247815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0002457 ORPHA:247815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0005978 ORPHA:247815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0011499 ORPHA:247815 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0001761 ORPHA:247815 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0000657 ORPHA:247815 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0001263 ORPHA:247815 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000049 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000154 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000218 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000232 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000248 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000276 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000316 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000325 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000343 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000347 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000349 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000358 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000396 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000426 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000463 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000472 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000506 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000582 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000637 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000974 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0001156 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0001773 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0002002 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0002007 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0002208 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0003196 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0004209 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0004322 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0005599 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0005692 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0006101 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0010807 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0011359 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0200021 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000175 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000218 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000256 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000278 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000348 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000365 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000369 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000377 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000378 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000407 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000426 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000453 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000470 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000494 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000588 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000612 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000639 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000767 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0001249 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0001274 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0001629 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0001643 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0002650 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0004322 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0002076 ORPHA:157835 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0002331 ORPHA:157835 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0000508 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0000613 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0002183 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0009926 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0012384 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0030953 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0031284 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0031417 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0000616 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0000819 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0000822 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0002017 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0011161 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0012452 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0025258 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0030833 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0100540 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0012199 ORPHA:157835 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:157835 Paroxysmal hemicrania HP:0100661 ORPHA:157835 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0003259 ORPHA:439232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0100957 ORPHA:439232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0000822 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0001917 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0012622 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0030843 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0030872 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0032613 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0000093 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0000096 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0000819 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0001639 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0001677 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0003077 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0003418 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0006510 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0011024 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0011713 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0031047 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0031546 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0032092 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0001688 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0002088 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0004381 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0004749 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0005110 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:439232 AApoAIV amyloidosis HP:0012309 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0000044 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001251 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001260 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001332 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001596 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001730 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001761 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001943 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0002342 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0005978 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0007108 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0007256 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0008734 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0008897 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0008994 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0030341 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0030344 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0040171 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0100287 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001321 ORPHA:453533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0010627 ORPHA:453533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0011787 ORPHA:453533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0040216 ORPHA:453533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome HP:0002762 ORPHA:1962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome HP:0004334 ORPHA:1962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome HP:0005863 ORPHA:1962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome HP:0008065 ORPHA:1962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome HP:0012733 ORPHA:1962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0002213 ORPHA:90368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0100038 ORPHA:90368 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0000962 ORPHA:90368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0001036 ORPHA:90368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0002209 ORPHA:90368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0002293 ORPHA:90368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0025092 ORPHA:90368 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0000989 ORPHA:90368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0001047 ORPHA:90368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0003193 ORPHA:90368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0003212 ORPHA:90368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0040189 ORPHA:90368 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0000164 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0000499 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0000534 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0001597 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0002550 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0004528 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0007550 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0100133 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90368 Hypotrichosis simplex of the scalp HP:0100134 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001580 ORPHA:189439 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001050 ORPHA:189439 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0002920 ORPHA:189439 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0500011 ORPHA:189439 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000708 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000712 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000716 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000787 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000819 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000822 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000858 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000939 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000963 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000978 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001007 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001065 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001510 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001952 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0003077 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0003118 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0003466 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0003701 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0007126 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0007552 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0008221 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0012030 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0012743 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0025383 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0031845 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000725 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001061 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001397 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001596 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0002354 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0002659 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0002893 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0002910 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0004324 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0005585 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0005978 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0010619 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0010788 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0011672 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0030428 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0100543 ORPHA:189439 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0100754 ORPHA:189439 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0005227 ORPHA:247806 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0003003 ORPHA:247806 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0004394 ORPHA:247806 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0004783 ORPHA:247806 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0002672 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0002885 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0002894 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0002895 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0003002 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0006744 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0006771 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0007649 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0008256 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0009592 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0010619 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0011068 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0011069 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0011459 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0012032 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0025388 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0030434 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0100244 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0100245 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0100246 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0200040 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000463 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000508 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000767 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000820 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000995 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0001555 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0001608 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0001633 ORPHA:1969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0002039 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0002650 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0002808 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0002970 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0003202 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0004122 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0004322 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0004326 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0006101 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0007513 ORPHA:1969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0007565 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0007703 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0010290 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000023 ORPHA:1968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000028 ORPHA:1968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000046 ORPHA:1968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000160 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000272 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000276 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000337 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000343 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000347 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000348 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000368 ORPHA:1968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000400 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000430 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000431 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000506 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0045075 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000581 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0001611 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0002553 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0002650 ORPHA:1968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0002705 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0002714 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0003189 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0009738 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0009896 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0009906 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0009912 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0010669 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0010751 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0011830 ORPHA:1968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0012368 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0100490 ORPHA:1968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000027 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000028 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000044 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000135 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000218 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000252 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000286 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000316 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000347 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000458 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000482 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000556 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000581 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000582 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000612 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000639 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000864 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0000960 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0001249 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0001250 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0001263 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0001510 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0001631 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0001634 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0001643 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0001744 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0001762 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0001878 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0004322 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0004444 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0004467 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0005280 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0005815 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0008572 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0008736 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251066 8p11.2 deletion syndrome HP:0011968 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0001075 ORPHA:79100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0004426 ORPHA:79100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0007515 ORPHA:79100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0011124 ORPHA:79100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0100276 ORPHA:79100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0000306 ORPHA:79100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0007502 ORPHA:79100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0045059 ORPHA:79100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0100277 ORPHA:79100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0000290 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0000464 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0000708 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0000989 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0001067 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0010783 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0012531 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79100 Atrophoderma vermiculata HP:0012722 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000708 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0001249 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0001250 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0001263 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002921 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0003080 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0003137 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0008358 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0012379 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0012402 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000750 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002154 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002197 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002317 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002360 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002922 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0003348 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0003394 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0003546 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0008326 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0011199 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0012432 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000083 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000496 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000511 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000597 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000716 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000718 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000729 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000736 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000738 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0000739 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0001284 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0001289 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0001298 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0001345 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002014 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002015 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002027 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002133 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002373 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002490 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0002936 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0003326 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0009088 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0009830 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0010819 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0011152 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0011342 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0011968 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79101 Hyperprolinemia type 2 HP:0012534 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0000969 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0001903 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0002593 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0005387 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0012719 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0100766 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0001510 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0001824 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0001888 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0002028 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0003073 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0003075 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0004313 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0011472 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0100508 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0001281 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0001541 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0001698 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0002027 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0002202 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0002720 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0002850 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0002901 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0002917 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0003394 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0004315 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0007430 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0025624 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0030995 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0031686 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0031690 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0045080 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0100512 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0032160 ORPHA:90362 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90362 Primary intestinal lymphangiectasia HP:0032215 ORPHA:90362 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0000836 ORPHA:79102 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0008153 ORPHA:79102 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0012726 ORPHA:79102 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0000975 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0001513 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0001962 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0002445 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0002917 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0003457 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0003470 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0003752 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0004303 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0007340 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0008180 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0008285 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0011784 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0011785 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0011786 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0012240 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0012364 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0100647 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0000016 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0001265 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0001337 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0001824 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0002019 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0003201 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0003394 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0003552 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0009020 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0011998 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0001657 ORPHA:79102 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0001663 ORPHA:79102 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0003694 ORPHA:79102 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0005165 ORPHA:79102 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0011706 ORPHA:79102 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0000597 ORPHA:79102 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0002153 ORPHA:79102 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0002203 ORPHA:79102 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0002486 ORPHA:79102 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0003134 ORPHA:79102 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79102 Thyrotoxic periodic paralysis HP:0006670 ORPHA:79102 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001004 ORPHA:90363 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0031686 ORPHA:90363 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0000969 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001888 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002024 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002028 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0003146 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0004788 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0011741 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0012378 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001394 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001945 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002013 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002202 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002563 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002608 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002665 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002720 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002850 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002960 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0003073 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0004313 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0011848 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0011900 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0012050 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0012281 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0012537 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0031085 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0032064 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0032136 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0032387 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0100324 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001708 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001907 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002576 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002580 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002584 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002719 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0005214 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90363 Secondary intestinal lymphangiectasia HP:0012191 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0000252 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0000316 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0000347 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0000486 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0002750 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0004322 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0006682 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0006689 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0007400 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0007477 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0007598 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0009804 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0012722 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0000062 ORPHA:206484 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0000137 ORPHA:206484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0000149 ORPHA:206484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0001007 ORPHA:206484 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0002027 ORPHA:206484 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0003270 ORPHA:206484 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0008730 ORPHA:206484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0008723 ORPHA:206484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0008703 ORPHA:206484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0030088 ORPHA:206484 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206484 Gonadoblastoma HP:0100621 ORPHA:206484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0007359 ORPHA:1949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0011167 ORPHA:1949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0011188 ORPHA:1949 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0002104 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0002169 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0002266 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0010818 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0011154 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0032556 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0045084 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0002020 ORPHA:1949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0008936 ORPHA:1949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0011171 ORPHA:1949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0011468 ORPHA:1949 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0002133 ORPHA:1949 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1949 Benign familial neonatal epilepsy HP:0031535 ORPHA:1949 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0000164 ORPHA:1951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0000343 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0000463 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0000524 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0001249 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0001250 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0002720 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0004313 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0004322 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0009237 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0008231 ORPHA:189427 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0002920 ORPHA:189427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0500011 ORPHA:189427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000712 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000716 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000787 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000822 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000858 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000939 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000978 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001007 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001050 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001065 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001952 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0003077 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0003118 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0003466 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0003701 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0007126 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0012030 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0012743 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0025383 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0031077 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0031845 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000725 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001061 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001397 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001596 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0002354 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0002659 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0004324 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0100754 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000859 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0002858 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0002893 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0005584 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0008200 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0100543 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0100634 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0000707 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0003281 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0004840 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0005505 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0012379 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0025498 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0000546 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0000608 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0000819 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0001251 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0001260 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0001332 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0002066 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0002070 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0002072 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0004305 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0007703 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0010837 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0011967 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0012465 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0040303 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0100543 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0000273 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0000473 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0000639 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0000643 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0000741 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0001300 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0001337 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0001635 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0002063 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0002304 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0002354 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0010994 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0012090 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0012179 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0012675 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0012696 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0100321 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0001394 ORPHA:48818 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:48818 Aceruloplasminemia HP:0001395 ORPHA:48818 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0000347 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0000831 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0001397 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0002155 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0008193 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0008890 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0010620 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0000541 ORPHA:436182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0007875 ORPHA:436182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0001890 ORPHA:1959 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0001973 ORPHA:1959 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0000967 ORPHA:1959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0001904 ORPHA:1959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0000421 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0000952 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0000978 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0000980 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0001254 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0001324 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0002094 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0012378 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1959 Evans syndrome HP:0001279 ORPHA:1959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0100570 ORPHA:100093 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0002574 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0004385 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0006722 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0006723 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0025474 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0030166 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0001708 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0001962 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0002017 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0002099 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0002730 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0002910 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0003144 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0005180 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0007380 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0009926 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0025428 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0030148 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0030445 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0031138 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0031417 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0002605 ORPHA:100093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0002668 ORPHA:100093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0003198 ORPHA:100093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0030145 ORPHA:100093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100093 Carcinoid syndrome HP:0030446 ORPHA:100093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000175 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000218 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000252 ORPHA:251056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000272 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000286 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000316 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000343 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000347 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000368 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000377 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000407 ORPHA:251056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000431 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000478 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000494 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000504 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0000582 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0001250 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0001252 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0001256 ORPHA:251056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0001263 ORPHA:251056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0001274 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0001319 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0001357 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0001508 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0001838 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0002119 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0030680 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0003241 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0004209 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0004322 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0012639 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251056 6q25 microdeletion syndrome HP:0100490 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0000324 ORPHA:1955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0000486 ORPHA:1955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0000639 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0000958 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0000966 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0001025 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0001260 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0001265 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0001288 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0002073 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0002075 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0002167 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0003011 ORPHA:1955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0012733 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0100022 ORPHA:1955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1955 Spinocerebellar ataxia type 34 HP:0200034 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001875 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001923 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0003348 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0003648 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0005528 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0005561 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0032169 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0032653 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000083 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000707 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001518 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001627 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001638 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001738 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001744 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001873 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001903 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002151 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002240 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002490 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0008897 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0012040 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000093 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000365 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000508 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000518 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000580 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000602 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000819 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000821 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000824 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001250 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001251 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001252 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001263 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001392 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001397 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001399 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001510 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001789 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001876 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0001944 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002015 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002028 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002033 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002148 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002376 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002570 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002900 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002901 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002910 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0002917 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0003076 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0003128 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0008936 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0031546 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0032066 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0100732 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0200118 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000107 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000252 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000639 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000829 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000846 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000953 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000957 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0000992 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0006270 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0006577 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:699 Pearson syndrome HP:0008501 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1954 Congenital lethal erythroderma HP:0000958 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1954 Congenital lethal erythroderma HP:0001025 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1954 Congenital lethal erythroderma HP:0001508 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1954 Congenital lethal erythroderma HP:0001522 ORPHA:1954 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:1954 Congenital lethal erythroderma HP:0002024 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1954 Congenital lethal erythroderma HP:0002093 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1954 Congenital lethal erythroderma HP:0003073 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1954 Congenital lethal erythroderma HP:0007381 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1954 Congenital lethal erythroderma HP:0008064 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0002155 ORPHA:31150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0003146 ORPHA:31150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0000656 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0000958 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0001433 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0002027 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0002460 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0002730 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0003477 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0004943 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0005145 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0007133 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0008404 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0030814 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0001349 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0001712 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0001873 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0001903 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0003396 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0010829 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0007957 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31150 Tangier disease HP:0100546 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000164 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000175 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000405 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000407 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000501 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000541 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000559 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000572 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000592 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000939 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000974 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000977 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0000978 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0001119 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0001131 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0001166 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0001288 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0001319 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0001385 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0001634 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0001642 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0001763 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0001822 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0002650 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0002659 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0003326 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0005692 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0005930 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0009887 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0011003 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0012385 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0100689 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0100790 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90354 Brittle cornea syndrome HP:0200020 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0000601 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0001643 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0002683 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0002970 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0003417 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0005716 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0006487 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0010655 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0011849 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0100670 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000164 ORPHA:576283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001249 ORPHA:576283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001263 ORPHA:576283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001999 ORPHA:576283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000175 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000219 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000319 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000324 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000343 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000347 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000490 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000504 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000708 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000729 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000924 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000938 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001344 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002307 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002342 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002360 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002500 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0007018 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0008872 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0008897 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0008947 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0010864 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0011304 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0012448 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0040082 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0410263 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000193 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000218 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000486 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000951 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001155 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001250 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001382 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001510 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001601 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001773 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002015 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002020 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002465 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002608 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0004209 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0011147 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0100559 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0100886 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0100574 ORPHA:100086 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0100634 ORPHA:100086 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0001046 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0001082 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0001541 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0001824 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0002018 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0002039 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0002574 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0002730 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0003270 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0005230 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0010638 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0012334 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0012432 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0030948 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0004375 ORPHA:100086 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100086 Gallbladder neuroendocrine tumor HP:0012658 ORPHA:100086 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0001762 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002061 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002194 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002395 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002751 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0003394 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0003698 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0007020 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0007210 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0008997 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0009046 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0009129 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0012473 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0012531 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0030051 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0001249 ORPHA:496689 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002015 ORPHA:496689 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0003487 ORPHA:496689 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0006380 ORPHA:496689 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0001272 ORPHA:496689 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002059 ORPHA:496689 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0040081 ORPHA:496689 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000505 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000546 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001257 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001266 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001288 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001332 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002071 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002454 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002505 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000496 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000510 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000580 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000662 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000708 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000938 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001260 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001268 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001300 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001927 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002063 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002451 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002483 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0007994 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0008181 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0009763 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0012045 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0012179 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002454 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0012678 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0031959 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000618 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000619 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000648 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000712 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000716 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000722 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000726 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001123 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001152 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001249 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001263 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001270 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001347 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001350 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002167 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0003084 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0007018 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0007132 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0009088 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0011504 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0011916 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0025402 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0031814 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0031937 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0032014 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0030051 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0100033 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0100710 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001250 ORPHA:157850 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001345 ORPHA:157850 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002080 ORPHA:157850 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0005227 ORPHA:454840 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0002858 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0003002 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0003003 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0008069 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0009725 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0012114 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0100743 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0000138 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0002671 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0002860 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0006725 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0006771 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0012539 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0031287 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000486 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000491 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000742 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001328 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0002188 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0002754 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0002757 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0007021 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0008000 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0010830 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0011344 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000324 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000347 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000448 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001518 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001562 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001772 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001838 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001999 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0002069 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0002982 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0008780 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0008947 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0009826 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0010841 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0011470 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0012044 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0012745 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0200020 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0030746 ORPHA:169805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0100310 ORPHA:169805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0001892 ORPHA:169805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0003125 ORPHA:169805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0003645 ORPHA:169805 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0000225 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0001933 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0002829 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0005261 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0011889 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0012233 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0000790 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0001376 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0001386 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0002170 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0002239 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0002315 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0003040 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0004846 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0006298 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0100309 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0100769 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0100773 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0001250 ORPHA:169805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0003273 ORPHA:169805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:169805 Moderate hemophilia A HP:0007420 ORPHA:169805 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0011355 ORPHA:69745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0011368 ORPHA:69745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0031285 ORPHA:69745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0100792 ORPHA:69745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0000464 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0001965 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0025103 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0025512 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0030350 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0200016 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0031445 ORPHA:69745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0410340 ORPHA:69745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0001231 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0001892 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0006477 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0012881 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0030416 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0100648 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69745 Warty dyskeratoma HP:0100737 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000486 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000508 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000519 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001181 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001252 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001270 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001348 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001511 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001635 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001680 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0002097 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0002110 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0002256 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0002650 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0002827 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0004969 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0005989 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0006698 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0007957 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0008897 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0010648 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0011220 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0011950 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0011968 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0012330 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001263 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0100512 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000122 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000729 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000938 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001762 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001763 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001884 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0002013 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0002645 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0002677 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0002816 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000973 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000974 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001582 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0007522 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0025167 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0100678 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000023 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001388 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001653 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001659 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0001999 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0004942 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0007495 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0010674 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0100790 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000015 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000252 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000270 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000325 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000337 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000369 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90348 Autosomal dominant cutis laxa HP:0000411 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001249 ORPHA:439218 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001263 ORPHA:439218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002500 ORPHA:439218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0010818 ORPHA:439218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0010851 ORPHA:439218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0200134 ORPHA:439218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0000980 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001041 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001250 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001252 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001332 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002104 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002181 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002453 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002540 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0007015 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0011097 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0011968 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0012736 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002059 ORPHA:439218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002079 ORPHA:439218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002521 ORPHA:439218 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000953 ORPHA:465508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0003281 ORPHA:465508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0011031 ORPHA:465508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0012463 ORPHA:465508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0002027 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0002240 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0003040 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0003074 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0003199 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0007574 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0012378 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000029 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000044 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000141 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000771 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000789 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000819 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000821 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000939 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001254 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001324 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001369 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001386 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001387 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001394 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001402 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001409 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001635 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001638 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001640 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001744 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001824 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0002829 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0005198 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0009830 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0011911 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0030848 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0040171 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0100626 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0100639 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000741 ORPHA:465508 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0011675 ORPHA:465508 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0030153 ORPHA:465508 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000973 ORPHA:90349 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001582 ORPHA:90349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002097 ORPHA:90349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0010750 ORPHA:90349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0025167 ORPHA:90349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0100679 ORPHA:90349 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000023 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000271 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001270 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001388 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001511 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001635 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001999 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002093 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002107 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002756 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0004426 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0004969 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0011004 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0030680 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0032153 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0045027 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0100790 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000010 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000076 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000929 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002021 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002256 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002617 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002827 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0004381 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0006532 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0006698 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0008722 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0012330 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0012619 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0030872 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001249 ORPHA:90349 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000252 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000260 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000270 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000494 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000518 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001332 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002011 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0003510 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0003125 ORPHA:169802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0003645 ORPHA:169802 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0000421 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0000978 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0001058 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0001386 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0001934 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0004846 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0005261 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0030140 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0000132 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0001376 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0001903 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0002170 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0002239 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0002315 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0002829 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0003121 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0005187 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0008330 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0012233 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0012541 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0012587 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0030137 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0100309 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0100310 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:169802 Severe hemophilia A HP:0100769 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0000252 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0001007 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0001249 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0001250 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0000280 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0002650 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0002750 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000078 ORPHA:251046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000126 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000174 ORPHA:251046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000238 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000286 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000365 ORPHA:251046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000369 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000396 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000470 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000486 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000490 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000601 ORPHA:251046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0000929 ORPHA:251046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0001252 ORPHA:251046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0001256 ORPHA:251046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0001582 ORPHA:251046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0001643 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0006101 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0012639 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0030084 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251046 6p22 microdeletion syndrome HP:0100790 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0100570 ORPHA:100082 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0001824 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002019 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002027 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002039 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002240 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002573 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002730 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002910 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0012702 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0025085 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0030144 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0030446 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0001708 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0001962 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002249 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002615 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0003144 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0004385 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0005180 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0007380 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0012701 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0025428 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0030145 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100082 Neuroendocrine tumor of anal canal HP:0031566 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0100605 ORPHA:100083 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0100634 ORPHA:100083 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0001618 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0001824 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0002039 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0002730 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0002875 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0003144 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0003528 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0012432 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0200136 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0011749 ORPHA:100083 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0031029 ORPHA:100083 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100083 Laryngeal neuroendocrine tumor HP:0031218 ORPHA:100083 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0011471 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0012690 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0030890 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000505 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0001249 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0001250 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0001272 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002540 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0003204 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0003657 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000529 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000543 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000550 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000750 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0001251 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002059 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002066 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002123 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002167 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002312 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002317 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002333 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002371 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002510 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0003205 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0003208 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0003698 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0005268 ORPHA:1947 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0011198 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0011203 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0030455 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0033044 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0100543 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000708 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000726 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000729 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0001263 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002015 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002359 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002384 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0000238 ORPHA:1946 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0000966 ORPHA:1946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0001250 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0001257 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0001268 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0002353 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0002376 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0004322 ORPHA:1946 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0006286 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0011073 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0000682 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0000705 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0000726 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0010864 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0100570 ORPHA:100084 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0100634 ORPHA:100084 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0040119 ORPHA:100084 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0040090 ORPHA:100084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0000360 ORPHA:100084 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0000372 ORPHA:100084 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0000407 ORPHA:100084 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0002730 ORPHA:100084 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0002028 ORPHA:100084 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0002315 ORPHA:100084 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100084 Middle ear neuroendocrine tumor HP:0010628 ORPHA:100084 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000112 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000217 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000488 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000491 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000501 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000518 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000572 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000587 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000610 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000613 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000822 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000953 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000958 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0000988 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0001094 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0001291 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0001376 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0001386 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0001392 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0001701 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0001744 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0001903 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0001945 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0002092 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0002094 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0002716 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0002829 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0003774 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0004942 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0005310 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0005764 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0006770 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0008046 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0008064 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0010286 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0010628 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0010783 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0012123 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0012219 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0012647 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0100490 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0100654 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0100769 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0200034 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90340 Blau syndrome HP:0200042 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0000508 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001046 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0004375 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0005230 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002896 ORPHA:100085 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0100634 ORPHA:100085 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001541 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001824 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002014 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002018 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002039 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002094 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002240 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002574 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002730 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002910 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0003270 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0012432 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001407 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001708 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001962 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002480 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0003144 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0007380 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0025428 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0025474 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0030148 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0030166 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0100570 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0006575 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0007663 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0010638 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0012658 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0030948 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0100012 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0100526 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0006254 ORPHA:100085 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0031029 ORPHA:100085 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0012557 ORPHA:1945 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0002307 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0007332 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0007334 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0009088 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0010535 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0025425 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0007359 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0000716 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0000736 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0000739 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0001328 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0000712 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0002076 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0002373 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0003401 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0006889 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0007018 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0012534 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0001326 ORPHA:1945 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1945 Rolandic epilepsy HP:0007270 ORPHA:1945 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0000491 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0000613 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0000953 ORPHA:90342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0000958 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0000992 ORPHA:90342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0001009 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0001010 ORPHA:90342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0001029 ORPHA:90342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0002671 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0002860 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0002861 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0004334 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90342 Xeroderma pigmentosum variant HP:0007603 ORPHA:90342 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0100570 ORPHA:100080 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0001824 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0002027 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0002039 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0002240 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0002730 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0025085 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0030144 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0030446 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0001708 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0001962 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0002249 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0002615 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0002910 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0003144 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0004385 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0005180 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0007380 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0012701 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0025428 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0030145 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100080 Neuroendocrine tumor of the colon HP:0031566 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0011170 ORPHA:1942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0011197 ORPHA:1942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000752 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0001249 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0002121 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0002123 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0002332 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0002392 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0007018 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0010819 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0025190 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000729 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000735 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0001251 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0001326 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0001337 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0010845 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0011171 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0011182 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0100851 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0410263 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000154 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000179 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000219 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000252 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000289 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000343 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000431 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000463 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000568 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0000750 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0001159 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0001252 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0001263 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0001999 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0002292 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0002317 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0007256 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0007359 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0009928 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0011220 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0100678 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0200134 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1942 Myoclonic-astatic epilepsy HP:0011097 ORPHA:1942 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1941 Juvenile absence epilepsy HP:0002069 ORPHA:1941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1941 Juvenile absence epilepsy HP:0002197 ORPHA:1941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1941 Juvenile absence epilepsy HP:0002392 ORPHA:1941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1941 Juvenile absence epilepsy HP:0000153 ORPHA:1941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1941 Juvenile absence epilepsy HP:0000496 ORPHA:1941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1941 Juvenile absence epilepsy HP:0002121 ORPHA:1941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1941 Juvenile absence epilepsy HP:0002373 ORPHA:1941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1941 Juvenile absence epilepsy HP:0001336 ORPHA:1941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0100570 ORPHA:100081 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0001824 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002019 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002027 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002039 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002573 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0012702 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0025085 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0030144 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0030446 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002240 ORPHA:100081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002249 ORPHA:100081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002730 ORPHA:100081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002910 ORPHA:100081 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0001708 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0001962 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002615 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0003144 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0004385 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0005180 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0007380 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0012701 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0025428 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0030145 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100081 Neuroendocrine tumor of the rectum HP:0031566 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0006723 ORPHA:100079 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002017 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002574 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0004396 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0005249 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0010676 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0011848 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0012701 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0030142 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0030144 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002019 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002039 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002240 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002730 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002910 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0003148 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0004385 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0030412 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0040276 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0001579 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0001962 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002099 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002615 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0003144 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0005211 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0010446 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0011749 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0030148 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0031499 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0100615 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0001394 ORPHA:57777 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0001657 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0003546 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0005185 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0012664 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0025168 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0031138 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0500018 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0001635 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0001640 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0001712 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0002240 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0004890 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0012398 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0020182 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0025406 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0030718 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0030973 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0031185 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0031295 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0032205 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0100598 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0410173 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0000952 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0001541 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0001892 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0004308 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0011675 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0030848 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0030955 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0031658 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0031659 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57777 Cirrhotic cardiomyopathy HP:0032106 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0100570 ORPHA:100075 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0001824 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0001891 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002017 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002039 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002254 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002574 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0004396 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0001005 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002044 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002240 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002248 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002249 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002730 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002910 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0025085 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0030145 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0030446 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0001399 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0001708 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0001962 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002615 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0002668 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0003144 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0003154 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0004385 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0005180 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0007380 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0012701 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0025428 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0030149 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100075 Neuroendocrine tumor of stomach HP:0031566 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0006723 ORPHA:100076 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002574 ORPHA:100076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002716 ORPHA:100076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0001005 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0001891 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002018 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002044 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002254 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002572 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002910 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0003148 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0006575 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0012334 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0100819 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0000126 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0000845 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0000969 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0001399 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0001642 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0001708 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0001899 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0001962 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002248 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002249 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002615 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0002668 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0003154 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0004796 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0005249 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0010446 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0011675 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0012197 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0025428 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0030149 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100076 Duodenal neuroendocrine tumor HP:0030404 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0004302 ORPHA:1929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0007359 ORPHA:1929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0001269 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002119 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002349 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002384 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002960 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0004305 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0011153 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0011193 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0011195 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0012157 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0012847 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0032665 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0100308 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0100543 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0000572 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0000708 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0000712 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0000737 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0000752 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0001260 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0001328 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002134 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002354 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002381 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002540 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002921 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002922 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0003493 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0007018 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0007334 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0010818 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0011163 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0011182 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0011185 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0012708 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0020151 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0025190 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0031491 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0031535 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0032005 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0032046 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0100660 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0002283 ORPHA:1929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0003460 ORPHA:1929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0011097 ORPHA:1929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1929 Rasmussen subacute encephalitis HP:0032661 ORPHA:1929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1928 Congenital lobar emphysema HP:0002097 ORPHA:1928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1928 Congenital lobar emphysema HP:0002098 ORPHA:1928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1928 Congenital lobar emphysema HP:0010978 ORPHA:1928 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0006722 ORPHA:100077 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0001005 ORPHA:100077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0002254 ORPHA:100077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0002574 ORPHA:100077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0003144 ORPHA:100077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0001824 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0001891 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0002018 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0002572 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0002716 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0002910 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0003148 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0004796 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0005249 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0012334 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0012432 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0025324 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0030142 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0100819 ORPHA:100077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0000126 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0000969 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0001399 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0001642 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0001708 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0001962 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0002044 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0025426 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0002615 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0010446 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0011675 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100077 Jejunal neuroendocrine tumor HP:0030149 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0000218 ORPHA:1927 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0000343 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0000348 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0001156 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0001172 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0001319 ORPHA:1927 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0002162 ORPHA:1927 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0005280 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0006070 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0009626 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0012368 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1927 Emery-Nelson syndrome HP:0100490 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0001962 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0002044 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0025426 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0002615 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0010446 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0011675 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0030149 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0006722 ORPHA:100078 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0001005 ORPHA:100078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0002254 ORPHA:100078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0002574 ORPHA:100078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0003144 ORPHA:100078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0001824 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0001891 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0002018 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0002572 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0002716 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0002910 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0003148 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0004796 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0005249 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0012334 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0012432 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0025324 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0030142 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0100819 ORPHA:100078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0000126 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0000969 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0001399 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0001642 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100078 Ileal neuroendocrine tumor HP:0001708 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0001332 ORPHA:157846 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002134 ORPHA:157846 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0012343 ORPHA:157846 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0012675 ORPHA:157846 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0100543 ORPHA:157846 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0000338 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0000712 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0001260 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0001618 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002015 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002067 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002072 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002310 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002339 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002355 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0004305 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0004373 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002454 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0012678 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0012690 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0012696 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0031959 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0031982 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0100321 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0000643 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0001300 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0001348 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0001621 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0001686 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002340 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002356 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002395 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0007350 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0007772 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0010530 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0031960 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0000709 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0000727 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002322 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0002922 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0003487 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0007123 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157846 Neuroferritinopathy HP:0025331 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0001284 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0002385 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0003477 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0006858 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0011868 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0012531 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0025459 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0011096 ORPHA:231445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0011948 ORPHA:231445 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0002839 ORPHA:231445 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0000657 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0000664 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0000666 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0000750 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001260 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001263 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001310 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001320 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001332 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001350 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002066 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002078 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002080 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002312 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002317 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002342 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002359 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002470 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0003487 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0008947 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0009617 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0031435 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0040196 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001274 ORPHA:453521 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000164 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000175 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000218 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000239 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000252 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000256 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000348 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000365 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000369 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000431 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000470 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000494 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000518 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000526 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000568 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000612 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0000647 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0001249 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0001250 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0001252 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0001263 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0001363 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0001513 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0001629 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0001770 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0001836 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0001852 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0002002 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0004397 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251038 3q29 microduplication syndrome HP:0004422 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1937 Eng-Strom syndrome HP:0000767 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1937 Eng-Strom syndrome HP:0001156 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1937 Eng-Strom syndrome HP:0001369 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1937 Eng-Strom syndrome HP:0001511 ORPHA:1937 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1937 Eng-Strom syndrome HP:0001629 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1937 Eng-Strom syndrome HP:0001671 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1937 Eng-Strom syndrome HP:0002650 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1937 Eng-Strom syndrome HP:0004322 ORPHA:1937 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1937 Eng-Strom syndrome HP:0100490 ORPHA:1937 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:57782 Mazabraud syndrome HP:0000924 ORPHA:57782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57782 Mazabraud syndrome HP:0002652 ORPHA:57782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57782 Mazabraud syndrome HP:0002653 ORPHA:57782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57782 Mazabraud syndrome HP:0002757 ORPHA:57782 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:57782 Mazabraud syndrome HP:0010734 ORPHA:57782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0000763 ORPHA:100073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0000772 ORPHA:100073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0001324 ORPHA:100073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0002829 ORPHA:100073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0003326 ORPHA:100073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0003401 ORPHA:100073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0003457 ORPHA:100073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0012534 ORPHA:100073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0001336 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0002123 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0002353 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0011153 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0011168 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0012469 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0200134 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0001252 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0001254 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0001263 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0001347 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0002015 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0002033 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0002205 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0011167 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0011968 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1935 Early myoclonic encephalopathy HP:0002521 ORPHA:1935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001250 ORPHA:1934 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001249 ORPHA:1934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001263 ORPHA:1934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002353 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002360 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002421 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002521 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0008947 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0010851 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000729 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000752 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001257 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001266 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001272 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001302 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001336 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001337 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002069 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002079 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002121 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002131 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002373 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002376 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0002506 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0007204 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0010818 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0010819 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0010850 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0011169 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0011190 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0012448 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0012469 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0007359 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0100660 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0100716 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000054 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000070 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000110 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000175 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000252 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000340 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000463 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000486 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0000826 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001332 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001500 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001508 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001537 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0001629 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0005280 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0009381 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0010174 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1934 Early infantile epileptic encephalopathy HP:0012554 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000252 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000407 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000505 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000508 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000512 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000649 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000708 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000762 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0001250 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0001251 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0001263 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0001265 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0002119 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0002194 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0002230 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0002514 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0003202 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0003236 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0003355 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0004322 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0004326 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0006887 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0012120 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0000238 ORPHA:1931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0000256 ORPHA:1931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0000268 ORPHA:1931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0000316 ORPHA:1931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0001250 ORPHA:1931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0001362 ORPHA:1931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0002084 ORPHA:1931 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0002414 ORPHA:1931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0002415 ORPHA:1931 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0002514 ORPHA:1931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1931 Frontal encephalocele HP:0007370 ORPHA:1931 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0000474 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0000708 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0000711 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0000716 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0000739 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0000751 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0001268 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0001297 ORPHA:100070 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0001300 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002071 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002145 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002185 ORPHA:100070 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002186 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002300 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002354 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002381 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002366 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002381 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002427 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002446 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0002500 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0006892 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0006977 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0007112 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0010523 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0010526 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0011204 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0030223 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0012658 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0030391 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0030692 ORPHA:100070 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0100256 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100070 Progressive non-fluent aphasia HP:0100315 ORPHA:100070 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002353 ORPHA:1930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0004372 ORPHA:1930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0012443 ORPHA:1930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0200149 ORPHA:1930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0001250 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0001945 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0001974 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002017 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002167 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002315 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002902 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002922 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0004887 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0007185 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0011897 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0012378 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0031179 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0001259 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0001262 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0001347 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002133 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002181 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002349 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002384 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0002721 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0004302 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0011227 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0011972 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0025143 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1930 Herpes simplex virus encephalitis HP:0030955 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0001903 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0001919 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0001945 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0002011 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0002017 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0002315 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0011227 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0001871 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0001873 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0002098 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0002141 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0002904 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0003326 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0004372 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0100543 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:673 Malaria HP:0000488 ORPHA:673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0002444 ORPHA:672 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000110 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000191 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000193 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000256 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000316 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000368 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000413 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000457 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000463 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000494 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001263 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001273 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001321 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001360 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001520 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001537 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001629 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001631 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001643 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001680 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001837 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001845 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0002101 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0005990 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0006695 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0007601 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0008207 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0008734 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0010564 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0010821 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0012165 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0030021 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0410030 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000046 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000062 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000243 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001249 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001562 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001883 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0002093 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0002139 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0005684 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0008684 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0010958 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0011026 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0030010 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0030431 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0030799 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000508 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000568 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000695 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000902 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001156 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001162 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001511 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0001770 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0002023 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0002164 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0002652 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0002827 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0002937 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0002986 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0003048 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0003196 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0004322 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0005917 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0006136 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0008213 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0008240 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0008245 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0008551 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0008751 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0009958 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0009971 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0010044 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0011304 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0011734 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0011748 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0011939 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0012751 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0040075 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0040086 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0100260 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0200117 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000023 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000028 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000047 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000054 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000086 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000122 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000171 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000175 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000273 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000308 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000453 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000749 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000826 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000835 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:672 Pallister-Hall syndrome HP:0000871 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100069 Semantic dementia HP:0000726 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100069 Semantic dementia HP:0002381 ORPHA:100069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100069 Semantic dementia HP:0012444 ORPHA:100069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100069 Semantic dementia HP:0030222 ORPHA:100069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100069 Semantic dementia HP:0030784 ORPHA:100069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100069 Semantic dementia HP:0002167 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100069 Semantic dementia HP:0010522 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100069 Semantic dementia HP:0010523 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100069 Semantic dementia HP:0010526 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100069 Semantic dementia HP:0012671 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:675 Annular pancreas HP:0001734 ORPHA:675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:675 Annular pancreas HP:0005250 ORPHA:675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:675 Annular pancreas HP:0100867 ORPHA:675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0000286 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0000303 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0000316 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0000369 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0001156 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0001249 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0001263 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0008386 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0012808 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0100333 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0000047 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0000252 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0000272 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0001633 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0001636 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1919 Phenobarbital embryopathy HP:0006265 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1918 Fetal minoxidil syndrome HP:0000028 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1918 Fetal minoxidil syndrome HP:0000347 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1918 Fetal minoxidil syndrome HP:0000368 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1918 Fetal minoxidil syndrome HP:0001537 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1918 Fetal minoxidil syndrome HP:0001629 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1918 Fetal minoxidil syndrome HP:0002230 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1918 Fetal minoxidil syndrome HP:0004209 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1918 Fetal minoxidil syndrome HP:0005280 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1917 Fetal methylmercury syndrome HP:0000252 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1917 Fetal methylmercury syndrome HP:0000365 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1917 Fetal methylmercury syndrome HP:0000505 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1917 Fetal methylmercury syndrome HP:0001252 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1917 Fetal methylmercury syndrome HP:0004322 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0000013 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0000028 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0000035 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0000047 ORPHA:1916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0000054 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0000130 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0000868 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0001518 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0001622 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0002861 ORPHA:1916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0003002 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0002871 ORPHA:1916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0008209 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0008715 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0012243 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0030424 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1916 Diethylstilbestrol syndrome HP:0100650 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324723 ABeta amyloidosis, Arctic type HP:0000708 ORPHA:324723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324723 ABeta amyloidosis, Arctic type HP:0002373 ORPHA:324723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0001347 ORPHA:320365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0002061 ORPHA:320365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0002064 ORPHA:320365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0003487 ORPHA:320365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0007020 ORPHA:320365 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0000012 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0000020 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0002460 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0003701 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0006858 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0006886 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0006937 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0007220 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0010829 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0011402 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0000486 ORPHA:320365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0001369 ORPHA:320365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0001761 ORPHA:320365 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0000726 ORPHA:320365 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0012747 ORPHA:320365 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001644 ORPHA:300751 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0031546 ORPHA:300751 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001279 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001637 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001645 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0005110 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0005162 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0009125 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001635 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001698 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0003560 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0004308 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0004749 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0004755 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0012722 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0012723 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0031409 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0000163 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0000708 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0001369 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0001744 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0001824 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0002017 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0002024 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0002027 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0002076 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0002240 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0002383 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0002716 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0002829 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0004370 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0012378 ORPHA:42642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42642 PFAPA syndrome HP:0100776 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000343 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000356 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000369 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000444 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000445 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001263 ORPHA:251028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001344 ORPHA:251028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000164 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000175 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000218 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000252 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000347 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000348 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000426 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000540 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000708 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000718 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001252 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001776 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001999 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002307 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0008070 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0008734 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0008872 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0010864 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0011220 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0011344 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0011470 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000028 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000054 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000160 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000201 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000256 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000275 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000276 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000322 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000324 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000470 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000478 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000490 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000494 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000589 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000620 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000678 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000689 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000691 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000711 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000742 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000938 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001238 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001250 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001276 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000712 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001629 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001762 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001773 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002007 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002011 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002061 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002136 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002213 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002591 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002659 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002761 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002815 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002870 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002938 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002982 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0003196 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0003241 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0003272 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0004209 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0004482 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0005469 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0006349 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0008897 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0010055 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0011304 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0011339 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0012428 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0020045 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0200055 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0002166 ORPHA:320360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0007020 ORPHA:320360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0012514 ORPHA:320360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0001347 ORPHA:320360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0002061 ORPHA:320360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0002355 ORPHA:320360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0003477 ORPHA:320360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0009053 ORPHA:320360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0000819 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0001317 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0001638 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0003487 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0005115 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0007256 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0008969 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0000648 ORPHA:320360 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0002151 ORPHA:320360 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000044 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000219 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000252 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000316 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000343 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000403 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000430 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000446 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000556 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000637 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0000964 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0001156 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0001290 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0001433 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0001511 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0001795 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0001831 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0001880 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0002079 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0002342 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0002655 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0002656 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0002714 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0002716 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0003273 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0004209 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0004313 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0004322 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0004625 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0005041 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0006532 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0007598 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0008804 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0008828 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0008897 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0011231 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0410170 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0012817 ORPHA:353298 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353298 Roifman syndrome HP:0005419 ORPHA:353298 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000008 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000028 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000054 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000073 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000098 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000126 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000175 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000238 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000252 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000347 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000365 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000368 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000464 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0000707 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0001195 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0001629 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0001636 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0001669 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0001679 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0001732 ORPHA:1926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0002007 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0030680 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0003422 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0004414 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0005107 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0007360 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0007370 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0008056 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0008551 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0008678 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0010301 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1926 Diabetic embryopathy HP:0010318 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0000047 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0000453 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0000820 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0000821 ORPHA:1923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0001362 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0001511 ORPHA:1923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0001561 ORPHA:1923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0001629 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0001679 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0001680 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0002032 ORPHA:1923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0002575 ORPHA:1923 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1923 Methimazole embryofetopathy HP:0100589 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000023 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000164 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000239 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000248 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000256 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000269 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000325 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000347 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000365 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000444 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000501 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000505 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000592 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000670 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000682 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000703 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000767 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000768 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000772 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000774 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000883 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000938 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000939 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000944 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000975 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001288 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001511 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001537 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001873 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0030680 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002645 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002650 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002757 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002808 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002823 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002857 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002980 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002983 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002992 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0003100 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0003103 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0003179 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0003272 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0003312 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0004306 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0004322 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0004331 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0004586 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0005019 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0005692 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0006487 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0007957 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0011073 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0100761 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0011314 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0004942 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002647 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001659 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002616 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0005294 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002829 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001251 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0012366 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002653 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002512 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000978 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0030267 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001342 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002947 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002019 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0006824 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000973 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000684 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000689 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0003083 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002015 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0004621 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001371 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0003084 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001510 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002315 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000238 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002150 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0030268 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002659 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0005214 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001382 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002505 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001634 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000410 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002011 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0006640 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002643 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000787 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0010953 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0000639 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002758 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0003401 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001730 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002089 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0004482 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0008905 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0003474 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0001518 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0003396 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002273 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0005257 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0100661 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002119 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:666 Osteogenesis imperfecta HP:0002953 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001723 ORPHA:75566 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001880 ORPHA:75566 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001977 ORPHA:75566 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0031323 ORPHA:75566 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001635 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001654 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001712 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001824 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001962 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0002094 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0012378 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0025168 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0031331 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0100749 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001653 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001685 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0006685 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0010872 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0011675 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0011712 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0012735 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0025523 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0031295 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0031442 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001650 ORPHA:75566 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001659 ORPHA:75566 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75566 Loeffler endocarditis HP:0001701 ORPHA:75566 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002172 ORPHA:75567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002355 ORPHA:75567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002359 ORPHA:75567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0000822 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0001347 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002063 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002067 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002167 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002169 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002174 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0000020 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0000726 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0000763 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002015 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002120 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002141 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0002362 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0003487 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0007772 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0012452 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75567 Primary progressive freezing gait HP:0100315 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0000028 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0000126 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0000233 ORPHA:1920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0000252 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0000286 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0000319 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0000347 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0000369 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0000411 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0000486 ORPHA:1920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0001182 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0001252 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0001263 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0001347 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0002167 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0003196 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0004322 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0004422 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0007477 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0010669 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0012745 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1920 Toluene embryopathy HP:0100542 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0002797 ORPHA:668 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0006489 ORPHA:668 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0000944 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0001386 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0003155 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0006491 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0012531 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0025435 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0045040 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0001824 ORPHA:668 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0001945 ORPHA:668 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:668 Osteosarcoma HP:0002756 ORPHA:668 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0004828 ORPHA:75564 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0010972 ORPHA:75564 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0000980 ORPHA:75564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001895 ORPHA:75564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001897 ORPHA:75564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0012132 ORPHA:75564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0200143 ORPHA:75564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001231 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001744 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001873 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001931 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0002240 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0002863 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0011447 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0012136 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0012137 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0012143 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0031035 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001635 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001875 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001876 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001892 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001894 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001913 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001974 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0004808 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0005513 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0005528 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000107 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000121 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000518 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001875 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0003535 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0011451 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001249 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001252 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001257 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001266 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001272 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001298 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001336 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001347 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001510 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002059 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002071 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002134 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002151 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002179 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002194 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002376 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0005528 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0007153 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0007256 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0011968 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0410256 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000083 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000639 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000821 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001250 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001276 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001397 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001638 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001998 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002878 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002910 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002107 ORPHA:445038 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000238 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000256 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000365 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000388 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000505 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000639 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000649 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000684 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000772 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000774 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000944 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000978 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000980 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001337 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001363 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001510 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001641 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001744 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001903 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001939 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002092 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002104 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002148 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002205 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002240 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002257 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002653 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002716 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002757 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002901 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0004349 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0004370 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0004415 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0005930 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0006323 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0006487 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0006824 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0007807 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0008066 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0010543 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0010719 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0011002 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0100022 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0006685 ORPHA:75565 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0001723 ORPHA:75565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0002094 ORPHA:75565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0003115 ORPHA:75565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0012378 ORPHA:75565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0001541 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0001640 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0001678 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0001945 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0002240 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0003073 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0004326 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0004395 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0006677 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0011675 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0011712 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0011713 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0012249 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0012398 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0012764 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0025077 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0025168 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0030950 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0031295 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0031664 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0000520 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0001653 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0001744 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0001880 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0001907 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0004749 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0004755 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0005110 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0005135 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0005180 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0006690 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0010741 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0011663 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0012664 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0030057 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0030149 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0030783 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0030848 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0031595 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0031650 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0005145 ORPHA:75565 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:75565 Tropical endomyocardial fibrosis HP:0031601 ORPHA:75565 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0000112 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0000246 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0001004 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0001231 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0001806 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0002092 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0002094 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0002102 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0002110 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0002205 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0002664 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0002721 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0003759 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0008388 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0009726 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0011354 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0011367 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0012384 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0012735 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0100242 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0100526 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0100574 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0100797 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:662 Yellow nail syndrome HP:0100798 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0100665 ORPHA:100057 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0000282 ORPHA:100057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0025018 ORPHA:100057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0002098 ORPHA:100057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0031244 ORPHA:100057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0040315 ORPHA:100057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0100540 ORPHA:100057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0002781 ORPHA:100057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0010783 ORPHA:100057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0011855 ORPHA:100057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0012027 ORPHA:100057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0000989 ORPHA:100057 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0001025 ORPHA:100057 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:661 Congenital central hypoventilation syndrome HP:0001250 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:661 Congenital central hypoventilation syndrome HP:0001252 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:661 Congenital central hypoventilation syndrome HP:0002093 ORPHA:661 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:661 Congenital central hypoventilation syndrome HP:0002251 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:661 Congenital central hypoventilation syndrome HP:0002270 ORPHA:661 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:661 Congenital central hypoventilation syndrome HP:0003005 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:661 Congenital central hypoventilation syndrome HP:0003006 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:661 Congenital central hypoventilation syndrome HP:0006747 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:661 Congenital central hypoventilation syndrome HP:0100006 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:661 Congenital central hypoventilation syndrome HP:0100543 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0010702 ORPHA:449400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0032300 ORPHA:449400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0001824 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0001945 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0002027 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0002099 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0002960 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0003212 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0003419 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0003493 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0003565 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0011227 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0012393 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0012649 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0012727 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0032061 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0000126 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0002647 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0004431 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0004970 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0005214 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0012303 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0031252 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0032230 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449400 IgG4-related aortitis HP:0430021 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:664 Ornithine transcarbamylase deficiency HP:0001399 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:664 Ornithine transcarbamylase deficiency HP:0001744 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:664 Ornithine transcarbamylase deficiency HP:0001943 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:664 Ornithine transcarbamylase deficiency HP:0001987 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:664 Ornithine transcarbamylase deficiency HP:0002021 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:664 Ornithine transcarbamylase deficiency HP:0003355 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0000003 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0000083 ORPHA:1909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0000091 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0000112 ORPHA:1909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0001562 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0001622 ORPHA:1909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0001629 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0001631 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0001638 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0001789 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0001928 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1909 Indomethacin embryofetopathy HP:0002093 ORPHA:1909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281122 Self-improving collodion baby HP:0001376 ORPHA:281122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281122 Self-improving collodion baby HP:0008064 ORPHA:281122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000590 ORPHA:663 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0003800 ORPHA:663 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000508 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000821 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0001348 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0002091 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0002151 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0002747 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0003200 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0003327 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0003457 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0008180 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0008316 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0009073 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000716 ORPHA:663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0001256 ORPHA:663 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000651 ORPHA:663 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000175 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000238 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000252 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000303 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000316 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000368 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000431 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000520 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001231 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001360 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001511 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000286 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000347 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001629 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001636 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001696 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001792 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001883 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0002084 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0002323 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0002435 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0002652 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0002983 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0003027 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0004322 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0004935 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0006101 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0007360 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0007370 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0009601 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0009891 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0010301 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0100335 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:281127 Acral self-healing collodion baby HP:0007514 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281127 Acral self-healing collodion baby HP:0007559 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281127 Acral self-healing collodion baby HP:0010783 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281127 Acral self-healing collodion baby HP:0012098 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281127 Acral self-healing collodion baby HP:0025524 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281127 Acral self-healing collodion baby HP:0100679 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002922 ORPHA:206443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0012379 ORPHA:206443 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000565 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000572 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000649 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000762 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001264 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001268 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001270 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001288 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002061 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002312 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002313 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002355 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002359 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002371 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002376 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002493 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002505 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0004302 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0004466 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0009830 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0010846 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0011400 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000505 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000618 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001250 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001251 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001260 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001337 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001350 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000712 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001761 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002068 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002301 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002373 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002445 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0003484 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0007018 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0008936 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0010830 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0011968 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0031006 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000737 ORPHA:206443 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:660 Omphalocele HP:0001539 ORPHA:660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:660 Omphalocele HP:0001622 ORPHA:660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1906 Fetal valproate spectrum disorder HP:0000160 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1906 Fetal valproate spectrum disorder HP:0000233 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1906 Fetal valproate spectrum disorder HP:0000286 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1906 Fetal valproate spectrum disorder HP:0000343 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1906 Fetal valproate spectrum disorder HP:0000457 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1906 Fetal valproate spectrum disorder HP:0001539 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1906 Fetal valproate spectrum disorder HP:0002714 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1906 Fetal valproate spectrum disorder HP:0003196 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000750 ORPHA:353281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001249 ORPHA:353281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001999 ORPHA:353281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000028 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000079 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000189 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000444 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000708 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000722 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000733 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000735 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000756 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001508 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001513 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000712 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001627 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002019 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002020 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002205 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002353 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002750 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002870 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0004322 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0005484 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0007086 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0009765 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0009834 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0009836 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0010055 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0011087 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0011304 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0025269 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0100710 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0100852 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000010 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000047 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000076 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000126 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000388 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000405 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000407 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000488 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000501 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000539 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000668 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000670 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000678 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000689 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000718 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000752 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000787 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000932 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001250 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001252 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001344 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001388 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001510 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001629 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001631 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001643 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002090 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002308 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002664 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002999 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0003319 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0005743 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0010562 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0010674 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0011069 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0031546 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0100716 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000518 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000589 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000695 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001642 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001647 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001650 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001680 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002099 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002341 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002566 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002858 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0003396 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0005363 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0005374 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0010302 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0010775 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0030434 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000160 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000256 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000272 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000286 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000293 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000316 ORPHA:261295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000327 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000343 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000391 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000431 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000494 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0000768 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0001250 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0001252 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0001263 ORPHA:261295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0001631 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0001716 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0002119 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0004322 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0005280 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0008551 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0010059 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261295 20p12.3 microdeletion syndrome HP:0011304 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324713 ABeta amyloidosis, Italian type HP:0000726 ORPHA:324713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324713 ABeta amyloidosis, Italian type HP:0001250 ORPHA:324713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324713 ABeta amyloidosis, Italian type HP:0001259 ORPHA:324713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324713 ABeta amyloidosis, Italian type HP:0001268 ORPHA:324713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324713 ABeta amyloidosis, Italian type HP:0001297 ORPHA:324713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324713 ABeta amyloidosis, Italian type HP:0001342 ORPHA:324713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324713 ABeta amyloidosis, Italian type HP:0002076 ORPHA:324713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000093 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000100 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000135 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000164 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000252 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000268 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000276 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000316 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000400 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000407 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000426 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000457 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000478 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000494 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000496 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000504 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0000648 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0001249 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0001250 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0001251 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0001263 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0001273 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0001284 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0001297 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0001302 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0001635 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0002126 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0002421 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0003134 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0004322 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0007447 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0008064 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66631 CEDNIK syndrome HP:0009830 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0000891 ORPHA:66630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0000924 ORPHA:66630 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0001651 ORPHA:66630 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0001696 ORPHA:66630 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0002758 ORPHA:66630 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0006585 ORPHA:66630 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0001347 ORPHA:320355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0002061 ORPHA:320355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0002064 ORPHA:320355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0002314 ORPHA:320355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0007020 ORPHA:320355 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0000012 ORPHA:320355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0003701 ORPHA:320355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0007210 ORPHA:320355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0030237 ORPHA:320355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0100561 ORPHA:320355 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0001250 ORPHA:320355 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0002921 ORPHA:320355 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0003457 ORPHA:320355 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0012898 ORPHA:320355 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000113 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000126 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000154 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000158 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000160 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000175 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000202 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000218 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000238 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000252 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000272 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000280 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000316 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000319 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000347 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000365 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000369 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000445 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000448 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000470 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000486 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000494 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000508 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0000518 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001182 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001249 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001252 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001263 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001276 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001371 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001510 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001511 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001643 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001650 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0001883 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0002162 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0002230 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0002650 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0003202 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0004209 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0004322 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0004383 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0005487 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0008661 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0008736 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0009890 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0009928 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0010481 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0011229 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261290 Trisomy 17p HP:0012471 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000160 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000175 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000218 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000233 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000248 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000252 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000276 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000324 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000343 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000347 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000348 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000369 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000426 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000444 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000463 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000486 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000494 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000677 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000678 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000717 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000718 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000739 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0000750 ORPHA:251019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0001166 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0001252 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0001263 ORPHA:251019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0001510 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0001762 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0001863 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0002213 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0002360 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0002546 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0004209 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0004322 ORPHA:251019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0005692 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0007018 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0008070 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0008734 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0010059 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0010864 ORPHA:251019 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0011304 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0011968 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251019 2q32q33 microdeletion syndrome HP:0100024 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0100033 ORPHA:66624 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0000712 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0000716 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0000737 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0000751 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0002072 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0002360 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0002376 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0007018 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0008770 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0010865 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0100710 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0100852 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0000756 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0000805 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0002039 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0002183 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0002312 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0002829 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0005366 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0025253 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0031468 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0040183 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66624 PANDAS HP:0100754 ORPHA:66624 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000218 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000248 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000286 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000316 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000337 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000343 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000368 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000400 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000528 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0045075 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000582 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000618 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000653 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000687 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0000691 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0001162 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0001249 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0002006 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0005288 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0006315 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0008736 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0009891 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0009912 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0010806 ORPHA:66625 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0011220 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0012639 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66625 Cerebrooculonasal syndrome HP:0100729 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000218 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000273 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000316 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000347 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000369 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000494 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000750 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001999 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002553 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0005322 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0005484 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0006200 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0008897 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010055 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0011304 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0012758 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000028 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000077 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000119 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000189 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000444 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000478 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000508 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000708 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000722 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000733 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000735 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000756 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001508 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001513 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000712 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001627 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002019 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002205 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002870 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0004322 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0007086 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0008752 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0008872 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0009765 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0009834 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0009836 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0011087 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0025269 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0030680 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0100710 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0100852 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0410263 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000010 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000034 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000047 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000076 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000079 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000126 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000388 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000405 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000486 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000501 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000540 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000559 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000579 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000639 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000668 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000670 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000678 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000689 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000718 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000752 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000787 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000932 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001128 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001159 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001249 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001252 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001273 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001344 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001385 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001388 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001511 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001561 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001629 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001631 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001643 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001655 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002020 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002090 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002308 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002835 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002858 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002999 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0003319 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0005743 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0007099 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010051 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010442 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010674 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0011069 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0011470 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0012448 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0030047 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0031251 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0031546 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0100716 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000407 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000518 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000589 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000695 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001181 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001250 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001642 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001647 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001650 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001680 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002099 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002341 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002353 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002566 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0003396 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0005363 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0005374 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010562 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010775 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0030434 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0001513 ORPHA:66628 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0003292 ORPHA:66628 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0000771 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0000786 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0000815 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0000842 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0002591 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0005407 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0005419 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0008187 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0008214 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0040171 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0008724 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0008734 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0000831 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0002155 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0002788 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0004926 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0005616 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66628 Obesity due to congenital leptin deficiency HP:0008245 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000510 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000556 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000773 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000774 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000886 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000887 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0001510 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002867 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0004322 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0005257 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0006431 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0007663 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0008786 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0009824 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0045027 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000926 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002643 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002812 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0003411 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0005916 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0006589 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0006603 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0006712 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0008515 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0008812 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0011947 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0012774 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000508 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000518 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000613 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000639 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000646 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000648 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000938 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0001216 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0001530 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002650 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002866 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002943 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0003086 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0003180 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0003375 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0003521 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0007641 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0007769 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0008444 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0100864 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000023 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000028 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000175 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000232 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000233 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000243 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000252 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000275 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000280 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000286 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000294 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000316 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000324 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000343 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000347 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000369 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000414 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000470 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000486 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000494 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000508 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000520 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000568 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000588 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000589 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000612 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000664 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0000864 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001156 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001182 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001249 ORPHA:251014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001250 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001252 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001263 ORPHA:251014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001595 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001629 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001631 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001770 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001773 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001800 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0001852 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0002002 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0002119 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0002120 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0002463 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0002650 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0002714 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0002750 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0002808 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0002991 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0002992 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0040071 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0003422 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0004209 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0004279 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0004322 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0005487 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0005916 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0006101 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0010059 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0012745 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0100257 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251014 2q31.1 microdeletion syndrome HP:0100490 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0002829 ORPHA:66627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0001376 ORPHA:66627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0001386 ORPHA:66627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0001387 ORPHA:66627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0002797 ORPHA:66627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0002815 ORPHA:66627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0000372 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0000405 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0001003 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0001004 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0001384 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0003019 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0003028 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0003043 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0009811 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0009911 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0031520 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0040090 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0000934 ORPHA:66627 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0005186 ORPHA:66627 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0005195 ORPHA:66627 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66627 Tenosynovial giant cell tumor HP:0040161 ORPHA:66627 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000175 ORPHA:1915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000219 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000252 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000275 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000286 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000319 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000347 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000368 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000463 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000486 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000506 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000508 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000568 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000691 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000708 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0000776 ORPHA:1915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0001249 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0001263 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0001328 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0001387 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0001511 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0001631 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0002230 ORPHA:1915 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0003196 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0003422 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0004322 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0004422 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0007477 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0010978 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0100335 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0100543 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1915 Fetal alcohol syndrome HP:0100761 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000970 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000982 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0008070 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0001072 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0001231 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0007410 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0010783 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0031013 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0031057 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000164 ORPHA:659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000407 ORPHA:659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000668 ORPHA:659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000670 ORPHA:659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0200042 ORPHA:659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000157 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000168 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0001250 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0001596 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0002797 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0002861 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0008069 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0011830 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0100526 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002493 ORPHA:206448 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0001251 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0001257 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0001273 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002418 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002922 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0003487 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0006801 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0007199 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0007305 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0007361 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0012379 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0031993 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0000572 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0001268 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0001288 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002062 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002312 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002344 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002353 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002359 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0003474 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0003484 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0004302 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0004466 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0007141 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0007340 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0009830 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0010830 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0011096 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0011441 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0031006 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0000020 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0001761 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002136 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002273 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002301 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002371 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0002492 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206448 Adult Krabbe disease HP:0100639 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000158 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000238 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000316 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000365 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000453 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000463 ORPHA:1914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000470 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000505 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000518 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000520 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000648 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0001156 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0001249 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0001250 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0001252 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0001511 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0002093 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0002475 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0030680 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0003196 ORPHA:1914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0005280 ORPHA:1914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0008056 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0008420 ORPHA:1914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0008551 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0009882 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0010655 ORPHA:1914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000047 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000048 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000175 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000252 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000307 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000316 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000340 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000400 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000431 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000508 ORPHA:66629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0045075 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000612 ORPHA:66629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0001249 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0001250 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0001252 ORPHA:66629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0001302 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0001328 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0002079 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0002119 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0002209 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0002251 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0004322 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0006101 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0000282 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0001025 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0001939 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0002027 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0003401 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0005225 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0007514 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0011971 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0012027 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0012252 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0025349 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0040315 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0002013 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0002014 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0002015 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0002018 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0002094 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0100755 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0000172 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0001609 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0002098 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0002615 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0005348 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0005483 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0011855 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100050 Hereditary angioedema type 1 HP:0100736 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000047 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000062 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000218 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000248 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000252 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000286 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000347 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000369 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000396 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000486 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000508 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0000664 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0001249 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0001263 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0001511 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0001629 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0001631 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0001636 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0001669 ORPHA:1913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0002650 ORPHA:1913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0003196 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0005280 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0007598 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0011039 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0011220 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1913 Fetal trimethadione syndrome HP:0011800 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000028 ORPHA:1912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000048 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000154 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000175 ORPHA:1912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000232 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000235 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000252 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000286 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000316 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000364 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000368 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000377 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000457 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000474 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000486 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0000508 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0001199 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0001263 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0001511 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0001626 ORPHA:1912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0001804 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0002162 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0002208 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0002664 ORPHA:1912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0003196 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0004322 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0006610 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0007477 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0009882 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1912 Fetal hydantoin syndrome HP:0100790 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1911 Cocaine embryofetopathy HP:0000079 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1911 Cocaine embryofetopathy HP:0001276 ORPHA:1911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1911 Cocaine embryofetopathy HP:0001347 ORPHA:1911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1911 Cocaine embryofetopathy HP:0001626 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1911 Cocaine embryofetopathy HP:0002084 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1911 Cocaine embryofetopathy HP:0009882 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1911 Cocaine embryofetopathy HP:0011100 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1911 Cocaine embryofetopathy HP:0100657 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:655 Nephronophthisis HP:0000083 ORPHA:655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:655 Nephronophthisis HP:0001903 ORPHA:655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:655 Nephronophthisis HP:0007703 ORPHA:655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0000526 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0000790 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0000822 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0001824 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0001945 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0002027 ORPHA:654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0002664 ORPHA:654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0002667 ORPHA:654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0002716 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0002896 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:654 Nephroblastoma HP:0100526 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1910 Fetal iodine syndrome HP:0000407 ORPHA:1910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1910 Fetal iodine syndrome HP:0000486 ORPHA:1910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1910 Fetal iodine syndrome HP:0000639 ORPHA:1910 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1910 Fetal iodine syndrome HP:0000821 ORPHA:1910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1910 Fetal iodine syndrome HP:0001249 ORPHA:1910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1910 Fetal iodine syndrome HP:0001264 ORPHA:1910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1910 Fetal iodine syndrome HP:0004374 ORPHA:1910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0000093 ORPHA:656 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0000969 ORPHA:656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0000097 ORPHA:656 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0003774 ORPHA:656 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0012622 ORPHA:656 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0100539 ORPHA:656 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0000737 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0001945 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0001967 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0002027 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0002315 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0003073 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0011947 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0012579 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0031504 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0000707 ORPHA:656 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0002586 ORPHA:656 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001257 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001324 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001510 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002079 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002120 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0003202 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000648 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001263 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001272 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001344 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002069 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002187 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002191 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002445 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002465 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002878 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0005484 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0006808 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0007179 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0008947 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0010818 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0011968 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000020 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000316 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000347 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000582 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000687 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001251 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001284 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001357 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001561 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002015 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002342 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002376 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002380 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002650 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002804 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0003084 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0003236 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0004887 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0011451 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0012450 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0045075 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000011 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000400 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000733 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000767 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000768 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001007 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001332 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001374 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002373 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002524 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002607 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0006532 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0007002 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0000708 ORPHA:324703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0000726 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0001249 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0001259 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0001263 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0001297 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0001342 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0002076 ORPHA:324703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0003401 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0003474 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324703 ABetaL34V amyloidosis HP:0100659 ORPHA:324703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324708 ABeta amyloidosis, Iowa type HP:0000708 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324708 ABeta amyloidosis, Iowa type HP:0000726 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324708 ABeta amyloidosis, Iowa type HP:0001288 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324708 ABeta amyloidosis, Iowa type HP:0001297 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324708 ABeta amyloidosis, Iowa type HP:0001336 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324708 ABeta amyloidosis, Iowa type HP:0001342 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324708 ABeta amyloidosis, Iowa type HP:0002015 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324708 ABeta amyloidosis, Iowa type HP:0002354 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324708 ABeta amyloidosis, Iowa type HP:0100659 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000319 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000365 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000518 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000639 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000717 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000954 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001250 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001251 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001319 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001476 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001508 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001510 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001876 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001883 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002020 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002119 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002191 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002240 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002714 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002719 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002813 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0003139 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0004322 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0007272 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0008066 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0009909 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0010655 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0011968 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0100651 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42665 Tietz syndrome HP:0000365 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42665 Tietz syndrome HP:0000593 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42665 Tietz syndrome HP:0001000 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42665 Tietz syndrome HP:0001010 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42665 Tietz syndrome HP:0002226 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42665 Tietz syndrome HP:0005599 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000252 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000331 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0001028 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0001269 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0002170 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0003764 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0007359 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0011124 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0025167 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0100494 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0100699 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0004426 ORPHA:398189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0008066 ORPHA:398189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:3000019 ORPHA:398189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000175 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000204 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000238 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000093 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000105 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000486 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000529 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000613 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000682 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000793 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000822 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000823 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000970 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0001250 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0001319 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0001336 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0001363 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0001513 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0002591 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0002757 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0003072 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0003138 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0004322 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0004802 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0007021 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0007272 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0007641 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0007754 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0008066 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0012444 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0012587 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0030612 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000938 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000939 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000963 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000974 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001001 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001252 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001367 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001373 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001385 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001387 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002020 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002036 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002300 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002381 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002381 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002673 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002748 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002749 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002812 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002827 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0003010 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0003510 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0005692 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0005743 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0007392 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0010529 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0100633 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0100699 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0100790 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000023 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000278 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000286 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000347 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002650 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0005280 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0100541 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000938 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000939 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000974 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000978 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000987 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001030 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001252 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001319 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0005659 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0005692 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0012379 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000482 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001075 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001324 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001373 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001519 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001762 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002761 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002827 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002943 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0032153 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000023 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000501 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000540 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000541 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000545 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000592 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000767 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001058 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001315 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001537 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001634 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001892 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002194 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002495 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002617 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002647 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002999 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003199 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003324 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003458 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003690 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003835 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0004942 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0005294 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0008780 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0020152 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0025019 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0025513 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0030043 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0031158 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0100295 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000243 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000377 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000486 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001635 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001763 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002091 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002624 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002705 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002987 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003477 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0006532 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0031189 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0031629 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0045052 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0040318 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0010472 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0032999 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0012379 ORPHA:95159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0007537 ORPHA:95159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0008066 ORPHA:95159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0001030 ORPHA:95159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0040320 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0001878 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0012804 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0100699 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0030756 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0001790 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0001072 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0000953 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0001010 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0002219 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0003401 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0000989 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0000969 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0001744 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0001892 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0000618 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0100532 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0500046 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0001096 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0000656 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0000938 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0001560 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0040322 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0200041 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0005406 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0011457 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0004552 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0002797 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0000939 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95159 Hepatoerythropoietic porphyria HP:0012132 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0000962 ORPHA:28378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0000982 ORPHA:28378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0001249 ORPHA:28378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0007957 ORPHA:28378 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0000613 ORPHA:28378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0000639 ORPHA:28378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0000708 ORPHA:28378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0000975 ORPHA:28378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0004337 ORPHA:28378 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0000252 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0000272 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0000572 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0001250 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0001251 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0001337 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0001597 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:28378 Tyrosinemia type 2 HP:0002167 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0001319 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0002015 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0002486 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0003326 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0003552 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0004875 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0010548 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0011809 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0011968 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012892 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012899 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012900 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012901 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012903 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012904 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0031372 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0003458 ORPHA:684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0008153 ORPHA:684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0011042 ORPHA:684 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75563 X-linked sideroblastic anemia HP:0001952 ORPHA:75563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75563 X-linked sideroblastic anemia HP:0000953 ORPHA:75563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75563 X-linked sideroblastic anemia HP:0000980 ORPHA:75563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75563 X-linked sideroblastic anemia HP:0001324 ORPHA:75563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75563 X-linked sideroblastic anemia HP:0001744 ORPHA:75563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75563 X-linked sideroblastic anemia HP:0001903 ORPHA:75563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75563 X-linked sideroblastic anemia HP:0002094 ORPHA:75563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75563 X-linked sideroblastic anemia HP:0002910 ORPHA:75563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75563 X-linked sideroblastic anemia HP:0011031 ORPHA:75563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75563 X-linked sideroblastic anemia HP:0012378 ORPHA:75563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0000605 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0000623 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002015 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002172 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002317 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002527 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002529 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0012535 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0100710 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0000511 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0000514 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0000643 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0000716 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0000750 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0001332 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002067 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002120 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002171 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002200 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002354 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002381 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0100543 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0000496 ORPHA:683 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0000726 ORPHA:683 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0001337 ORPHA:683 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:683 Progressive supranuclear palsy HP:0002063 ORPHA:683 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003701 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003789 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003803 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0009062 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003473 ORPHA:424107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0000508 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0001270 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0001284 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0001288 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0001508 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002047 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002058 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002205 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002650 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002828 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003198 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003388 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003458 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003691 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0011968 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0000602 ORPHA:424107 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002747 ORPHA:424107 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003201 ORPHA:424107 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003236 ORPHA:424107 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0040191 ORPHA:424107 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0000597 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0001276 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0001288 ORPHA:682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0001315 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0001371 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0001522 ORPHA:682 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0001635 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0002047 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0002093 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0002153 ORPHA:682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0002380 ORPHA:682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0002486 ORPHA:682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0002607 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0002900 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0002902 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0003198 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0003202 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0003236 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0003326 ORPHA:682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0003401 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0003457 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0003712 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0003752 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0007215 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0008872 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0011675 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0100021 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0100613 ORPHA:682 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:682 Hyperkalemic periodic paralysis HP:0100749 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000049 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000160 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000252 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000272 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000286 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000316 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000365 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000389 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000411 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000414 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000486 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000498 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000527 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000687 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000708 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000750 ORPHA:261279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000960 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001252 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001347 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001376 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001508 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001511 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001631 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001643 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001763 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001852 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002007 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002020 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002092 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002094 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002553 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002650 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002803 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0003065 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0003182 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0003279 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0004209 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0004322 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0005280 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0005930 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0007598 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0010511 ORPHA:261279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0011342 ORPHA:261279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0011343 ORPHA:261279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0011803 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0100807 ORPHA:261279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0008153 ORPHA:681 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0012726 ORPHA:681 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0003457 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0003470 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0003752 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0004303 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0008180 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0012240 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0009020 ORPHA:681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0011998 ORPHA:681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0003694 ORPHA:681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0002203 ORPHA:681 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0008256 ORPHA:681 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0030196 ORPHA:681 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0002486 ORPHA:681 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:681 Hypokalemic periodic paralysis HP:0006670 ORPHA:681 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0000978 ORPHA:231401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0001744 ORPHA:231401 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0001873 ORPHA:231401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0001875 ORPHA:231401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0001892 ORPHA:231401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0001935 ORPHA:231401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0002094 ORPHA:231401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0002488 ORPHA:231401 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0002721 ORPHA:231401 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0002863 ORPHA:231401 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0011903 ORPHA:231401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0012378 ORPHA:231401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0000175 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0000490 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0000501 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0000568 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0000664 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0000750 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0001249 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0001250 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0001561 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0001631 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0001770 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0002463 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0002539 ORPHA:261272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0002575 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0003468 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0006101 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261272 17q12 microduplication syndrome HP:0100716 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0000369 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0001128 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0002055 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0009743 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0011336 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0045075 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0000385 ORPHA:398173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0000666 ORPHA:398173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0004554 ORPHA:398173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0007651 ORPHA:398173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0000377 ORPHA:398173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0000387 ORPHA:398173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398173 Focal facial dermal dysplasia type II HP:0000394 ORPHA:398173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:677 Pancreatoblastoma HP:0001824 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:677 Pancreatoblastoma HP:0002013 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:677 Pancreatoblastoma HP:0002014 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:677 Pancreatoblastoma HP:0002027 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:677 Pancreatoblastoma HP:0003270 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:677 Pancreatoblastoma HP:0005213 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:677 Pancreatoblastoma HP:0005984 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:677 Pancreatoblastoma HP:0000952 ORPHA:677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:677 Pancreatoblastoma HP:0002733 ORPHA:677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:676 Hereditary chronic pancreatitis HP:0001974 ORPHA:676 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:676 Hereditary chronic pancreatitis HP:0002027 ORPHA:676 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:676 Hereditary chronic pancreatitis HP:0011227 ORPHA:676 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:676 Hereditary chronic pancreatitis HP:0100027 ORPHA:676 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:676 Hereditary chronic pancreatitis HP:0012379 ORPHA:676 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:676 Hereditary chronic pancreatitis HP:0000819 ORPHA:676 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:676 Hereditary chronic pancreatitis HP:0000952 ORPHA:676 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:676 Hereditary chronic pancreatitis HP:0005213 ORPHA:676 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:676 Hereditary chronic pancreatitis HP:0030247 ORPHA:676 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0004334 ORPHA:679 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0100585 ORPHA:679 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0200034 ORPHA:679 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0001824 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0002017 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0002027 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0002239 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0005244 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0010547 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0012378 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0031368 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0000508 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0000518 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0000587 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0000651 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0001250 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0001637 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0001658 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0001697 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0002076 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0002140 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0002202 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0002321 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0002586 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0002878 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0004420 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0006824 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0007021 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0009830 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0010936 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0012089 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0100576 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0100749 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:679 Malignant atrophic papulosis HP:0100819 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0000164 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0000166 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0000230 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0000704 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0000972 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0000982 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0000998 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0001053 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0001073 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0001166 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0001231 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0001581 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0001597 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0002205 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0002230 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0002231 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0002514 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0002797 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0002860 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0002861 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0006308 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0006323 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0008069 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0008404 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0009804 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0011132 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0100523 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0100838 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:678 Papillon-Lefèvre syndrome HP:0200039 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0000112 ORPHA:100024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0000939 ORPHA:100024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0001744 ORPHA:100024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0001824 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0001903 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0001945 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0002240 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0002716 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0002797 ORPHA:100024 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0005561 ORPHA:100024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0010702 ORPHA:100024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0010975 ORPHA:100024 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100024 Mu-heavy chain disease HP:0030156 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0001510 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0001541 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0001596 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0001744 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0001903 ORPHA:100025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0001945 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0002024 ORPHA:100025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0002027 ORPHA:100025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0002240 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0002244 ORPHA:100025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0002665 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0002716 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0002721 ORPHA:100025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0002901 ORPHA:100025 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0002961 ORPHA:100025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100025 Alpha-heavy chain disease HP:0008209 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:631 Non-acquired isolated growth hormone deficiency HP:0000830 ORPHA:631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:631 Non-acquired isolated growth hormone deficiency HP:0002750 ORPHA:631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:631 Non-acquired isolated growth hormone deficiency HP:0004322 ORPHA:631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0000174 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0000988 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0001370 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0001744 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0001873 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0001890 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0001903 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0001945 ORPHA:100026 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0001973 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0002015 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0002205 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0002240 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0002716 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0002797 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0002960 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0004332 ORPHA:100026 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0005561 ORPHA:100026 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0009830 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0012378 ORPHA:100026 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100026 Gamma-heavy chain disease HP:0100648 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0012090 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0025439 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0100539 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0000024 ORPHA:449432 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0025426 ORPHA:449432 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0002960 ORPHA:449432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0003237 ORPHA:449432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0010287 ORPHA:449432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0032300 ORPHA:449432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0000217 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0001880 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0002716 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0003212 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0004431 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0007734 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0010286 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0010702 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0031281 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0000077 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0000083 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0000282 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0000820 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0005200 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0011801 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449432 IgG4-related submandibular gland disease HP:0030151 ORPHA:449432 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0000003 ORPHA:261265 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0000028 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0000049 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0000070 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0000083 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0000239 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0000365 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0000717 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0000819 ORPHA:261265 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0001249 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0001250 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0001263 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0001562 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0002059 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0002463 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0002910 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0004322 ORPHA:261265 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0008678 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0011968 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0012157 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261265 17q12 microdeletion syndrome HP:0100801 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66661 Mast cell sarcoma HP:0001744 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66661 Mast cell sarcoma HP:0001824 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66661 Mast cell sarcoma HP:0002240 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66661 Mast cell sarcoma HP:0002716 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66661 Mast cell sarcoma HP:0012378 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66661 Mast cell sarcoma HP:0100242 ORPHA:66661 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66661 Mast cell sarcoma HP:0100495 ORPHA:66661 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66661 Mast cell sarcoma HP:0100720 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66661 Mast cell sarcoma HP:0100721 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000311 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000771 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000826 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000836 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000929 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0001373 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0001513 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0002652 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0002905 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0007565 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0011362 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0100530 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000035 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000036 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000140 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000280 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000853 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000858 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000958 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000963 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0001249 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0001482 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0002650 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0100543 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000147 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000365 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000505 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0001596 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0002684 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0002757 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0003272 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0010788 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0100013 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0100031 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0100242 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0002091 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0002151 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0003200 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0003546 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0003722 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0004322 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0008180 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0008994 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0009053 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0012240 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0030319 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0040014 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0008997 ORPHA:457050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001627 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001629 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001702 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0006705 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011103 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011553 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001631 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001642 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001662 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0005150 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011539 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011552 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0030148 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0031546 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0000961 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001508 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001635 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001643 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001651 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001659 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001696 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001709 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001716 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001750 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0003388 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0004755 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0004935 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0005180 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0005185 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0006699 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0010316 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011538 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011581 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011590 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011621 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011663 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011667 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011675 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011682 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011688 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011704 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011705 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011707 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0012537 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0012722 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0031567 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0004749 ORPHA:216694 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0004756 ORPHA:216694 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011599 ORPHA:216694 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0012534 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0031249 ORPHA:353253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0010829 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0010824 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0007377 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0032143 ORPHA:353253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0000223 ORPHA:353253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0000739 ORPHA:353253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0000716 ORPHA:353253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0030811 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0000168 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0000217 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0002315 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0002360 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0000712 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0031042 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353253 Burning mouth syndrome HP:0010298 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0000238 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0000989 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0001000 ORPHA:626 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0001053 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0001250 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0001482 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0002230 ORPHA:626 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0002664 ORPHA:626 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0002859 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0003764 ORPHA:626 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0005600 ORPHA:626 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0008069 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0012056 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:626 Large congenital melanocytic nevus HP:0100242 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000518 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000952 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001249 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001250 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001263 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001433 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0003575 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0004446 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0005525 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0008897 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0011972 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000252 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000256 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000400 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000470 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000475 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000639 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001156 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001251 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001258 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001276 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001334 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0002719 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0002908 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0004322 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0007229 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0010306 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0010920 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0012430 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0012448 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0012695 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0100022 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000028 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000175 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000256 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000293 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000316 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000347 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000365 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000368 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000396 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000592 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000772 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000889 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000944 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0000974 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0005916 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0001252 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0001373 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0001385 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0001387 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0001511 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0002093 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0002205 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0002514 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0002650 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0002808 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0002983 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0003042 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0003312 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0005280 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0005692 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0005930 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0006487 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0008434 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0008921 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0009381 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0009465 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0009623 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0009748 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0009773 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0011001 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0011800 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0100490 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:628 Diastrophic dysplasia HP:0100761 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0000100 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0000821 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0000944 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0000958 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0000969 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0000989 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0001019 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0001072 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0001508 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0001596 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0001744 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0001831 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0001880 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0001903 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0001945 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0001974 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0002028 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0002090 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0002240 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0002665 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0002716 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0002960 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0004332 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0004430 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0007549 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0100646 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0100806 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39041 Omenn syndrome HP:0100840 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000164 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000276 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000303 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000411 ORPHA:627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000426 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000448 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000482 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000486 ORPHA:627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000501 ORPHA:627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000505 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000518 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000541 ORPHA:627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000568 ORPHA:627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000572 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000639 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0000708 ORPHA:627 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0001249 ORPHA:627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0010049 ORPHA:627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:627 Nance-Horan syndrome HP:0011069 ORPHA:627 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0000505 ORPHA:622 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0000639 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0000709 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0000726 ORPHA:622 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001250 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001251 ORPHA:622 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001252 ORPHA:622 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001254 ORPHA:622 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001263 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001508 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001980 ORPHA:622 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0002013 ORPHA:622 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0002120 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0001324 ORPHA:168572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0002058 ORPHA:168572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0000028 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0000175 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0001252 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0001270 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0001488 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0001762 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0002020 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0002047 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0002093 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0002803 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0002804 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0003202 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0004322 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0008458 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0010674 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0011968 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0012084 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0000193 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0000218 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0000347 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0000405 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0000494 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0001260 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0001315 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0002714 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0011819 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0100295 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0000329 ORPHA:168572 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0001256 ORPHA:168572 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0001388 ORPHA:168572 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0002540 ORPHA:168572 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:168572 Native American myopathy HP:0012385 ORPHA:168572 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0000572 ORPHA:39044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0001098 ORPHA:39044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0012054 ORPHA:39044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0000541 ORPHA:39044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0011524 ORPHA:39044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0012055 ORPHA:39044 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0000539 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0007902 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0007906 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0008494 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0010920 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0011499 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0012508 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0030786 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0030800 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0100533 ORPHA:39044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:39044 Uveal melanoma HP:0200026 ORPHA:39044 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0000643 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0001304 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0001336 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0002067 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0002072 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0002172 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0002322 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0002362 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0002378 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0002548 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0004373 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0007158 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0002355 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0002359 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0002451 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0006511 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0010808 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0011951 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53351 X-linked dystonia-parkinsonism HP:0031162 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0000961 ORPHA:621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0012119 ORPHA:621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0000707 ORPHA:621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0001597 ORPHA:621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0002875 ORPHA:621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0025118 ORPHA:621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0000252 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0000565 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0000592 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0001257 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0001263 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0001272 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0002283 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0002305 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0002451 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0002510 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0006808 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0006913 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0007112 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0010864 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0011344 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0001250 ORPHA:621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0001276 ORPHA:621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0001518 ORPHA:621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0012448 ORPHA:621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:621 Hereditary methemoglobinemia HP:0012697 ORPHA:621 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0000501 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0000969 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0001034 ORPHA:624 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0001052 ORPHA:624 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0001249 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0001250 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0001269 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0001291 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0002170 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0002204 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0002301 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0002514 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0002650 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0002814 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0002817 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0004936 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0005293 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0007400 ORPHA:624 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0011675 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0100026 ORPHA:624 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0100559 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0200034 ORPHA:624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:624 Familial multiple nevi flammei HP:0200042 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000054 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000248 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000286 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000322 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000347 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000426 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000430 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000437 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000455 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000486 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000639 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000821 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000822 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0000823 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0001249 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0001250 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0001263 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0001903 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0002667 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0002697 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0002714 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0004331 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52022 Potocki-Shaffer syndrome HP:0100777 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0001249 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0001258 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0002061 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0002064 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0003487 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0005830 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0006380 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0006466 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0001263 ORPHA:320396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0001270 ORPHA:320396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0001347 ORPHA:320396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0012043 ORPHA:320396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0000545 ORPHA:320396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0000648 ORPHA:320396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000348 ORPHA:261250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000411 ORPHA:261250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000717 ORPHA:261250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000154 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000218 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000307 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000319 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000343 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000347 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000609 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0001250 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0002007 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0002079 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0002119 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0002342 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0007165 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0030048 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000028 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000276 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000325 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000365 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000384 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000389 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000463 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000483 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000486 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000505 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000545 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000582 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000639 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0000750 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0001385 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0001629 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0001644 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0001653 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0001873 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0002015 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0002553 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0002650 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0002808 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0004422 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0005518 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0006315 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0009623 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0010720 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0011968 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261250 16q24.3 microdeletion syndrome HP:0012471 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000316 ORPHA:398156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000456 ORPHA:398156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000160 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000252 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000289 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000324 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000347 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000384 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000405 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000430 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000445 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000636 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0001140 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0001629 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0002084 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0002650 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0006931 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0008551 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0010609 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0410030 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000175 ORPHA:398156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000256 ORPHA:398156 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0000488 ORPHA:618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0000958 ORPHA:618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0001480 ORPHA:618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0001595 ORPHA:618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0002071 ORPHA:618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0002861 ORPHA:618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0002894 ORPHA:618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0003764 ORPHA:618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0006753 ORPHA:618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0100013 ORPHA:618 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:618 Familial melanoma HP:0100763 ORPHA:618 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000518 ORPHA:320391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0001251 ORPHA:320391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002061 ORPHA:320391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002355 ORPHA:320391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0003487 ORPHA:320391 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0001272 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002059 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002120 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002500 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0007371 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0100543 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000020 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000365 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000639 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000726 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000789 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0001347 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0001761 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002078 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002136 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002346 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002464 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002650 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0003477 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0006938 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0006986 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0007256 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0008003 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0008734 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0012207 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0012864 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0012865 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0100261 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0011672 ORPHA:615 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0006691 ORPHA:615 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0030148 ORPHA:615 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0002875 ORPHA:615 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0003388 ORPHA:615 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0000952 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0001396 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0001541 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0001635 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0001640 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0001907 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0001945 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0005180 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0006689 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0010741 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0100749 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0002617 ORPHA:615 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:615 Familial atrial myxoma HP:0004944 ORPHA:615 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:614 Thomsen and Becker disease HP:0002486 ORPHA:614 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:614 Thomsen and Becker disease HP:0003457 ORPHA:614 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:617 Congenital primary megaureter HP:0000010 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:617 Congenital primary megaureter HP:0000036 ORPHA:617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:617 Congenital primary megaureter HP:0000076 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:617 Congenital primary megaureter HP:0000126 ORPHA:617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:617 Congenital primary megaureter HP:0000787 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:617 Congenital primary megaureter HP:0001945 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:617 Congenital primary megaureter HP:0002027 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:617 Congenital primary megaureter HP:0002907 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:617 Congenital primary megaureter HP:0008676 ORPHA:617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:617 Congenital primary megaureter HP:0010935 ORPHA:617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0002885 ORPHA:616 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0000270 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0001251 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0001254 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0001291 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0001310 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0002017 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0002073 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0002080 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0002315 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0002516 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0004481 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0007129 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0009878 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0012658 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0000238 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0000529 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0000651 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0000737 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0001263 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0002321 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0002350 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0003418 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0005227 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0005561 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0007352 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0007824 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0008619 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0010302 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0011695 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0100543 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0002910 ORPHA:616 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0003006 ORPHA:616 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:616 Medulloblastoma HP:0100526 ORPHA:616 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0001315 ORPHA:611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0002960 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0003200 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0003202 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0003236 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0003326 ORPHA:611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0003457 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0003701 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0003731 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0003805 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0004303 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0008872 ORPHA:611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:611 Inclusion body myositis HP:0009071 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0001324 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0001371 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003458 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003560 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0009073 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0030095 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0000467 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0001220 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0001239 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0001288 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0002355 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0002460 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0002828 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003236 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003325 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003731 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0006466 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0009058 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0100490 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0000962 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0001073 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0001382 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0001771 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0002086 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0002515 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0002650 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0002791 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0002938 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0002987 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003306 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003327 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003391 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003691 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003700 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0003805 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0009027 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0010176 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0012497 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:610 Bethlem myopathy HP:0032152 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0002155 ORPHA:650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0003233 ORPHA:650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0031799 ORPHA:650 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0000083 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0000093 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0001878 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0002621 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0007957 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0012213 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0000505 ORPHA:650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0001919 ORPHA:650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0003774 ORPHA:650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:650 LCAT deficiency HP:0005181 ORPHA:650 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002865 ORPHA:653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0000739 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0000975 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0000980 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0001962 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002014 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002315 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002640 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002666 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003345 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003528 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003639 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0008208 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0011781 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0011976 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0011978 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0025388 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0032241 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0100735 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0000787 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0001324 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0001519 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002019 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002150 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002251 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002751 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002864 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002896 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002897 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003072 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003165 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003270 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003307 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0008200 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0010622 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0010726 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0012471 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0025151 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0025289 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0030430 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0030809 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0030833 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0031023 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0032346 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0100526 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0001388 ORPHA:653 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003758 ORPHA:653 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:653 Multiple endocrine neoplasia type 2 HP:0007126 ORPHA:653 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0003072 ORPHA:652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0008200 ORPHA:652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0008208 ORPHA:652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0010615 ORPHA:652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0031058 ORPHA:652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000802 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000849 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001012 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001824 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002014 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002020 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002027 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002044 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002150 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002893 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002894 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0004349 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0004398 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0005605 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0006767 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0040306 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0100829 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0500167 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000141 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000169 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000716 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000736 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000787 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000822 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000845 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000853 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001254 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001289 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001293 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001579 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001944 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002013 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002018 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002019 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002039 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002248 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002249 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002315 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002588 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002659 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002797 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002858 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002890 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0003118 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0006723 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0006744 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0007449 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011407 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011760 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0012197 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0012232 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0030405 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0032044 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0040085 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0100570 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001259 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002666 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002888 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0003144 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0003528 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0006780 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0008291 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011151 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011759 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011761 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011762 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0030404 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0030445 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:652 Multiple endocrine neoplasia type 1 HP:0100522 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0012379 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0030272 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0003281 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0012465 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0031876 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0032500 ORPHA:101330 TAS HP:0040281 M ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0030955 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0200123 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0002725 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0003774 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0000819 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0001397 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0004377 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0000992 ORPHA:101330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0008066 ORPHA:101330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0001030 ORPHA:101330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0040189 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0001058 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0012531 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0005406 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0031292 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0000998 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0001010 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0000953 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0001007 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0100699 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0000559 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0000656 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0002910 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0001405 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0033197 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0033196 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0001402 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0010473 ORPHA:101330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0010472 ORPHA:101330 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0032999 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0012217 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0003452 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101330 Porphyria cutanea tarda HP:0006562 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002205 ORPHA:320385 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000248 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000252 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000293 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000294 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000311 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000338 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000470 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000475 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000678 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001249 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001260 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001263 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001284 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001290 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001310 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002066 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0004322 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001250 ORPHA:320385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001272 ORPHA:320385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002059 ORPHA:320385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002079 ORPHA:320385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002871 ORPHA:320385 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0000268 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0000717 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0000718 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0000767 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001161 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001166 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001249 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001263 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001363 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001629 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001631 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001636 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001669 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001680 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0001763 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0002463 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0005692 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0007018 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261243 16p13.11 microduplication syndrome HP:0100753 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100006 ABeta amyloidosis, Dutch type HP:0000708 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100006 ABeta amyloidosis, Dutch type HP:0000726 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100006 ABeta amyloidosis, Dutch type HP:0001250 ORPHA:100006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100006 ABeta amyloidosis, Dutch type HP:0001268 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100006 ABeta amyloidosis, Dutch type HP:0001297 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100006 ABeta amyloidosis, Dutch type HP:0001342 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100006 ABeta amyloidosis, Dutch type HP:0002315 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100006 ABeta amyloidosis, Dutch type HP:0002514 ORPHA:100006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100006 ABeta amyloidosis, Dutch type HP:0011970 ORPHA:100006 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100006 ABeta amyloidosis, Dutch type HP:0100613 ORPHA:100006 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:100008 ACys amyloidosis HP:0001297 ORPHA:100008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100008 ACys amyloidosis HP:0001342 ORPHA:100008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100008 ACys amyloidosis HP:0011034 ORPHA:100008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100008 ACys amyloidosis HP:0011970 ORPHA:100008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100008 ACys amyloidosis HP:0100613 ORPHA:100008 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome HP:0000407 ORPHA:66633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome HP:0000592 ORPHA:66633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome HP:0001100 ORPHA:66633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome HP:0001337 ORPHA:66633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome HP:0002216 ORPHA:66633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000218 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000273 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000316 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000347 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000369 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000494 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000750 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001249 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001999 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002553 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0005322 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0005484 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0006200 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0008897 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010055 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0011304 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0012758 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000028 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000077 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000119 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000189 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000444 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000478 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000508 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000708 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000722 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000733 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000735 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000756 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001508 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001513 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000712 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001627 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002019 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002205 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002870 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0004322 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0007086 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0008752 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0008872 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0009765 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0009834 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0009836 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0011087 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0025269 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0030680 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0100710 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0100852 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0410263 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000010 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000034 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000047 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000076 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000079 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000126 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000388 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000405 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000486 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000501 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000540 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000559 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000579 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000639 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000668 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000670 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000678 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000689 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000718 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000752 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000787 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000932 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001128 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001159 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001181 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001252 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001273 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001344 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001385 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001388 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001511 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001561 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001629 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001631 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001643 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001655 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002020 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002090 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002308 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002835 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002858 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002999 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0003319 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0005743 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0007099 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010051 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010442 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010674 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0011069 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0011470 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0012448 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0030047 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0031251 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0031546 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0100716 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000407 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000518 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000589 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000695 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001250 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001642 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001647 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001650 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001680 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002099 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002341 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002353 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002566 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0003396 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0005363 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0005374 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010562 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010775 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0030434 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0000496 ORPHA:293168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0001257 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0001258 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0001260 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0001347 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0002193 ORPHA:293168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0002425 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0002445 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0002510 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0005216 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0007256 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001251 ORPHA:66634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001510 ORPHA:66634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001644 ORPHA:66634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0003530 ORPHA:66634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0003535 ORPHA:66634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001511 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001657 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002151 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002194 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002910 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0004840 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0004856 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0012758 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0000051 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0000648 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001250 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001414 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001998 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0008689 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0008736 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0011623 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0000821 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001319 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001324 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001332 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001999 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002061 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002345 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002376 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0003700 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0007146 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0007366 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0008619 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0008762 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0009110 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0100660 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0100702 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0000175 ORPHA:66637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0000470 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0000921 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0002098 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0002475 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0003275 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0004599 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0005562 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0005640 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0010306 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:66637 Diaphanospondylodysostosis HP:0100625 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000028 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000033 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000037 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008665 ORPHA:168558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000127 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000142 ORPHA:168558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000144 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000151 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000771 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000823 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000835 ORPHA:168558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0002750 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000848 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008207 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000939 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001197 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001274 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001508 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001622 ORPHA:168558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001941 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001944 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001998 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0002013 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0002153 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0002615 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0002902 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0004319 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0003107 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0003154 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0012605 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0004349 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0007440 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0007574 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008163 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008187 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008232 ORPHA:168558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008730 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008734 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0010789 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0011106 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0011749 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0011968 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0011969 ORPHA:168558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0012244 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0012245 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0012598 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0012854 ORPHA:168558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0030349 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0030369 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0100779 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0025282 ORPHA:398147 TAS HP:0040282 M ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0007328 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0003401 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0003489 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0000271 ORPHA:398147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0012532 ORPHA:398147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0000707 ORPHA:398147 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0003474 ORPHA:398147 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0032143 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0000739 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0000716 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:398147 Persistent idiopathic facial pain HP:0012332 ORPHA:398147 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0001249 ORPHA:320380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0001258 ORPHA:320380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0001263 ORPHA:320380 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0000486 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0001260 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0001288 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0002015 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0002064 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0002079 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0007766 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0008366 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0030891 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0000218 ORPHA:320380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0004322 ORPHA:320380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0006970 ORPHA:320380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0030051 ORPHA:320380 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000028 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000044 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000078 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000179 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000218 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000316 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000325 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000347 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000348 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000368 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000391 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000407 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000465 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000474 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000476 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000486 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000494 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000508 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000520 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000639 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000767 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000768 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0000995 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0001004 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0001156 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0001252 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0001260 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0001324 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0001641 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0001743 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0001892 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0001928 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0002162 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0002167 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0002208 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0002240 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0030680 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0002650 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0002750 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0002974 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0004209 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0004322 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0004415 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0005692 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0006610 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0007477 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0008872 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0010318 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0011362 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0011381 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0011675 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0011800 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0011869 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0100625 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:648 Noonan syndrome HP:0100763 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000175 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000252 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000271 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000278 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000294 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000340 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000364 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000400 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000426 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000444 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000448 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000470 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000492 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000582 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0000992 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0001268 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0001324 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0001480 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0001595 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0001873 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0001878 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0001890 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002002 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002023 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002025 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002028 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002205 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002269 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002488 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002664 ORPHA:647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002665 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002859 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0002878 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0003011 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0003202 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0003220 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0004322 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0004326 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0005280 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0005425 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0006532 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0007018 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0009733 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0011362 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0012190 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0012191 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0012732 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0100335 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:647 Nijmegen breakage syndrome HP:0100515 ORPHA:647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0000926 ORPHA:168555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0001376 ORPHA:168555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0002657 ORPHA:168555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0002812 ORPHA:168555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0002983 ORPHA:168555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0003510 ORPHA:168555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0004279 ORPHA:168555 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0006603 ORPHA:168555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0000649 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0000737 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001257 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001268 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001955 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002344 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002922 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0004302 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0007141 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0012379 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0030215 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0000762 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001508 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002061 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002361 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002518 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0004466 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0009062 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0011968 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0012706 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0012708 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0031161 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0000365 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0000572 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0000613 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0000618 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0000648 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001250 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001263 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001265 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001298 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001324 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001336 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001347 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002013 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002020 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002098 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002123 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002179 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002421 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002506 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002516 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002719 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0002878 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0003547 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0003552 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0004326 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0005968 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0007103 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0011448 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0011470 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0025013 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0030211 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0031860 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0040194 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0040195 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0100963 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0000467 ORPHA:206436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001053 ORPHA:206436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001264 ORPHA:206436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0001601 ORPHA:206436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:206436 Infantile Krabbe disease HP:0010729 ORPHA:206436 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000028 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000233 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000252 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000272 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000375 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000400 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000407 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000411 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000446 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000490 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000501 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000518 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000532 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000541 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000568 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000601 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000615 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000618 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000639 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000647 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000648 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000708 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000709 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000717 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000733 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000737 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000738 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000739 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000819 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0000823 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0001083 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0001250 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0001252 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0001276 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0001324 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0001347 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0001508 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0002076 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0002120 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0002169 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0002353 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0002360 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0002376 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0002650 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0004326 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0004327 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0005293 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0006887 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0007018 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0007360 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0007676 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0007833 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0007957 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0007968 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0008046 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0008063 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0010662 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0010978 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0011039 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0100012 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0100639 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0100716 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0100718 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:649 Norrie disease HP:0100742 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0000365 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0000510 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0000543 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0000618 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0000639 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0000726 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0000737 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0000763 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0001133 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0001136 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0001250 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0001251 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0001263 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0002119 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0002120 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0002315 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0003394 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0003487 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0003701 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0003739 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0004322 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0007117 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0007240 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0007814 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0010864 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0012751 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0030588 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:644 NARP syndrome HP:0008316 ORPHA:644 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0001284 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0001290 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0001382 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0002235 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0002355 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0003405 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0003429 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0003701 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0005109 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0001249 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0001257 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0001317 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0001761 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0001762 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0002224 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0002317 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0002460 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0002650 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0002936 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0005922 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0010628 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0002527 ORPHA:643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0002857 ORPHA:643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0003487 ORPHA:643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0003690 ORPHA:643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:643 Giant axonal neuropathy HP:0012503 ORPHA:643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000708 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000952 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001250 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001251 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001260 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001263 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001288 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001332 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001337 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001541 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001618 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001744 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002015 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002072 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002167 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002240 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002360 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002376 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0007256 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0010318 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0100543 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0011400 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002088 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0012433 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0011446 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0100022 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001392 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000718 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000741 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0011951 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0008765 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002530 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0007302 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0004333 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002524 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001252 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0006855 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002059 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002312 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000750 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000726 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0007108 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000716 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000734 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0011968 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001791 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0003651 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0007359 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002359 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0006913 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0011471 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002197 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000365 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001399 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001433 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001789 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002079 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001249 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002080 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002415 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002451 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0003349 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000744 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002061 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001268 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001252 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001336 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0030050 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000722 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0007240 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002344 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000709 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002113 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002878 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002093 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0100753 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0001328 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0011098 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002133 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002493 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0000511 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:646 Niemann-Pick disease type C HP:0002367 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0001265 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0001605 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0001608 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0001761 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0002093 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0002650 ORPHA:640 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0003401 ORPHA:640 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0003431 ORPHA:640 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0006824 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0009830 ORPHA:640 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0010617 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0010618 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0011330 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0011968 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000238 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000343 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000494 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000684 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0001250 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0002119 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0002308 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0002808 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0003196 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0005616 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0005692 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0009894 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0010442 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000098 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000160 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000202 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000243 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000256 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000286 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000369 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000470 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000486 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000488 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000518 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000568 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000752 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000767 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000772 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0000925 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0001249 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0001252 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0001263 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0001520 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0001537 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0002671 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0002885 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0005462 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0010603 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0010610 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0010612 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0002667 ORPHA:77301 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77301 Monosomy 9q22.3 HP:0002859 ORPHA:77301 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0002002 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0002566 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0002808 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0007894 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0010880 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0100277 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000202 ORPHA:77300 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0011340 ORPHA:77300 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000252 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000347 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000369 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000377 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000430 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000431 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000457 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000545 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000572 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000587 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000639 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000767 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000891 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0001357 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000742 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000970 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001249 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002726 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002754 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003134 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0007021 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0010829 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0011136 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000958 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000987 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001328 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001954 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002355 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002661 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002821 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003091 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0005368 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0006480 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0012170 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0025615 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100491 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100537 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100725 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000736 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000752 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000978 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001279 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001510 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001903 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001955 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002015 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002100 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002270 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002936 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003028 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003095 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003272 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003474 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0004302 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0004926 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0008000 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0009085 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0010885 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0011968 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0030757 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0030811 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100710 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100712 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100851 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000559 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000975 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002045 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0012622 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0012804 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100963 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000648 ORPHA:324737 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001249 ORPHA:324737 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001263 ORPHA:324737 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0003642 ORPHA:324737 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000518 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000572 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000589 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000639 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001251 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001317 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001935 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001999 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0007766 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0008064 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0008947 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0012443 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000510 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000821 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000824 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000982 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000998 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001250 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001272 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001928 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001976 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0002334 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0002808 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0002910 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0005107 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0005585 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0030680 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000365 ORPHA:324737 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0000677 ORPHA:324737 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:324737 SRD5A3-CDG HP:0001595 ORPHA:324737 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0009063 ORPHA:641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0001315 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0002380 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0002922 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0003323 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0003394 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0003690 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0004302 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0004345 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0006251 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0009077 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:641 Multifocal motor neuropathy HP:0012078 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000028 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000154 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000175 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000204 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000219 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000252 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000319 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000369 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000384 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000407 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000413 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000463 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000494 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000722 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000750 ORPHA:261236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0000767 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0001263 ORPHA:261236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0001274 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0001276 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0001328 ORPHA:261236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0001360 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0001629 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0001631 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0001762 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0002020 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0002119 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0002197 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0002263 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0002269 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0002353 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0003196 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0004322 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0005280 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0009914 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0010508 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0010864 ORPHA:261236 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0011968 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0100490 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0100716 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261236 16p13.11 microdeletion syndrome HP:0100753 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0000819 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0001272 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0002059 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0002066 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0002522 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0004322 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0004325 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0006827 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0007108 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0007141 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0007366 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0008619 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0010871 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0001256 ORPHA:445062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0003487 ORPHA:445062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0000648 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001138 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001256 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001257 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001347 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001762 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0002061 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0002079 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0002313 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0002936 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0003202 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0003383 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0003448 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0003484 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0003487 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0007010 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0007042 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0007340 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0007663 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0008963 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0009027 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0009830 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0000486 ORPHA:320375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0000602 ORPHA:320375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001999 ORPHA:320375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0002804 ORPHA:320375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0100543 ORPHA:320375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1094 Anonychia-microcephaly syndrome HP:0000164 ORPHA:1094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1094 Anonychia-microcephaly syndrome HP:0000252 ORPHA:1094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1094 Anonychia-microcephaly syndrome HP:0000340 ORPHA:1094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1094 Anonychia-microcephaly syndrome HP:0000670 ORPHA:1094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1094 Anonychia-microcephaly syndrome HP:0001798 ORPHA:1094 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1094 Anonychia-microcephaly syndrome HP:0004209 ORPHA:1094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1094 Anonychia-microcephaly syndrome HP:0007598 ORPHA:1094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1094 Anonychia-microcephaly syndrome HP:0010624 ORPHA:1094 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309108 Pancreatic colipase deficiency HP:0001081 ORPHA:309108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309108 Pancreatic colipase deficiency HP:0001510 ORPHA:309108 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:309108 Pancreatic colipase deficiency HP:0001738 ORPHA:309108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309108 Pancreatic colipase deficiency HP:0001889 ORPHA:309108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309108 Pancreatic colipase deficiency HP:0002028 ORPHA:309108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309108 Pancreatic colipase deficiency HP:0002570 ORPHA:309108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309108 Pancreatic colipase deficiency HP:0002630 ORPHA:309108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000027 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000054 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000077 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000105 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000135 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000204 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000212 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000141 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000238 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000293 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000365 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000520 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000534 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000771 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000819 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000823 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000953 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0008064 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0000998 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0001084 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0001256 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0001433 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0001596 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0001763 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0001822 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0001935 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0001954 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0002024 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0002110 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0002155 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0002257 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0002619 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0002716 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0002750 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0002757 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0002797 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0004322 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0003765 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0001347 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0007380 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0008734 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0009125 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0011025 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0012385 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0012724 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0030053 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0100324 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0100727 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0100776 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168569 H syndrome HP:0100790 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0002064 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0002313 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0002355 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0002460 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0003487 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0003693 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0007010 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0001257 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0001290 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0001348 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0001761 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0002495 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0003438 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0006380 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0006466 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0007083 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0012785 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0030430 ORPHA:637 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000407 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000478 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0002196 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0002858 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0007663 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0007787 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0009589 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0009593 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0010302 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0100009 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0100963 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000238 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000360 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000572 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000587 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000618 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000646 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000651 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000763 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0000953 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0001250 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0001260 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0001269 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0001271 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0001317 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0002015 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0002172 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0002317 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0002354 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0002512 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0002888 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0003474 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0006824 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0008069 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0009027 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0009594 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0009831 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0010628 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0031189 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0100010 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0100014 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0100019 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0002381 ORPHA:637 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0007968 ORPHA:637 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0009592 ORPHA:637 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:637 Full NF2-related schwannomatosis HP:0009733 ORPHA:637 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000028 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000098 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000364 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000365 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000478 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000504 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000520 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001100 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001251 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001480 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002167 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002315 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002354 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002652 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002757 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002857 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0003100 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0003401 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000707 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000823 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000995 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001012 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001256 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001328 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001482 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002808 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002858 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0007440 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0007565 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0008069 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0009592 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0009732 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0009737 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0012733 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0007018 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000238 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000256 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000492 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000501 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000505 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000512 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000518 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000545 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000567 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000818 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000822 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000826 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0000924 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001053 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001250 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001387 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0001909 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002086 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002650 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002664 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002666 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0002970 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0003272 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0004322 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0005506 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0007378 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0007703 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0007957 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0009735 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0010786 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0010935 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0011362 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0100242 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:636 Neurofibromatosis type 1 HP:0100545 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0002166 ORPHA:639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0007133 ORPHA:639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0011402 ORPHA:639 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0002936 ORPHA:639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0003693 ORPHA:639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0005508 ORPHA:639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0007220 ORPHA:639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0100287 ORPHA:639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0006865 ORPHA:639 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000028 ORPHA:638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000271 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000316 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000368 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000465 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000494 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000508 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000765 ORPHA:638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0001328 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0001639 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0001642 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0002015 ORPHA:638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0003010 ORPHA:638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0004322 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0007565 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0009023 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0011039 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0100763 ORPHA:638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0000347 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0000348 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0000457 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0000592 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0000684 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0000691 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0000818 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0000823 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0000929 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0000966 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0001156 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0001249 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0001270 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0001620 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0001831 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0001943 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0001956 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0001999 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0002750 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0002758 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0003124 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0003510 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0005281 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0007495 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0008736 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0009804 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0009811 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0009891 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:633 Laron syndrome HP:0009924 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0002921 ORPHA:449427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0010652 ORPHA:449427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0002315 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0002922 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0007340 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0011227 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0012531 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0032300 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0000123 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0000246 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0000572 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0000587 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0000651 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0000738 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0001250 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0001268 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0001289 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0001733 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0002015 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0002088 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0002094 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0002176 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0002381 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0002385 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0002840 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0003319 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0003419 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0003474 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0006824 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0009744 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0009911 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0010558 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0011850 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0030833 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0045052 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:3000035 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0000929 ORPHA:449427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0001880 ORPHA:449427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449427 IgG4-related pachymeningitis HP:0004431 ORPHA:449427 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:635 Neuroblastoma HP:0004375 ORPHA:635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:635 Neuroblastoma HP:0011976 ORPHA:635 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000013 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000026 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000055 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000133 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000142 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000150 ORPHA:168563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000786 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000789 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000837 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0001271 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0001315 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0001761 ORPHA:168563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0002460 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003130 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003134 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003202 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003376 ORPHA:168563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003434 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003409 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0007141 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0008214 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0008715 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0008723 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0010464 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0040171 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0045010 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0000086 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0000126 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0045075 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0000653 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0000956 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0000958 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0000964 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0000988 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0001019 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0001025 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0001249 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0001250 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0001263 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0001595 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0001944 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0002024 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0002097 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0002099 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0002205 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0002209 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0002213 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0002719 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0003212 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0003355 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0004313 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0004322 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0007400 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0007479 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0008064 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0009886 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:634 Netherton syndrome HP:0100326 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000546 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002333 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002167 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0011209 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0003657 ORPHA:168491 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0012379 ORPHA:168491 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000618 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001268 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0007359 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0032794 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001251 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000545 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000483 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0030462 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0011194 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001336 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0010852 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002463 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0004302 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000708 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000726 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000750 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0003204 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0011167 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0010819 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0011147 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002069 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000572 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001288 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002371 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000752 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000718 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000744 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000733 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000739 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0008770 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000738 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000729 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0007663 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001250 ORPHA:168491 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002123 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002360 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002540 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001257 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0003698 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0010845 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0010841 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0010850 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0040148 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000649 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001272 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002059 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0007371 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0030891 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0003208 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0003205 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0000083 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0000124 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0000648 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001249 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001254 ORPHA:289916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001259 ORPHA:289916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001263 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001252 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001266 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001332 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001510 ORPHA:289916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001733 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001873 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001875 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001903 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001987 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0002017 ORPHA:289916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0002072 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0002098 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0002240 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0004374 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0100806 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000076 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000077 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000093 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000104 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000160 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000294 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000300 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000426 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000510 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000556 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000729 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000750 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001263 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001166 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001249 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001250 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001319 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001513 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0002076 ORPHA:261222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0002149 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0002251 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0002808 ORPHA:261222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0007018 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0011351 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0012450 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0012622 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0005328 ORPHA:435628 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0009059 ORPHA:435628 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000194 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000252 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000322 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000347 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0001249 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0001347 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0100678 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000212 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000218 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000290 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000292 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000298 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000430 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000446 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000496 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000520 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0000586 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0001090 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0001276 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0001285 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0001371 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0001508 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0001561 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0002093 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0002094 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0002179 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0002187 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0002650 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0002781 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0005274 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0006532 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0008734 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0008897 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0009125 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0009933 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0010751 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0010804 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0011344 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0001250 ORPHA:435628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435628 Keppen-Lubinsky syndrome HP:0002659 ORPHA:435628 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0000648 ORPHA:320406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002828 ORPHA:320406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0003693 ORPHA:320406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0000543 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0000975 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0001260 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0001761 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002166 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002194 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002267 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002355 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002600 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002650 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0003380 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0003477 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0007020 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0007054 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0008944 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0000639 ORPHA:320406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002071 ORPHA:320406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0000508 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0000969 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0001695 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0001701 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0001892 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0002015 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0002094 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0002315 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0002463 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0002516 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0002721 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0002960 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0002961 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0003473 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0006597 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0012735 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0100521 ORPHA:100100 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0100540 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0100634 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0100721 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100100 Thymic tumor HP:0100749 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0000077 ORPHA:284227 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0001009 ORPHA:284227 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0001899 ORPHA:284227 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0003237 ORPHA:284227 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0012418 ORPHA:284227 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0001028 ORPHA:284227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0001541 ORPHA:284227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0004930 ORPHA:284227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0011920 ORPHA:284227 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0001901 ORPHA:284227 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0002170 ORPHA:284227 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0004936 ORPHA:284227 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0001041 ORPHA:284227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284227 TEMPI syndrome HP:0002315 ORPHA:284227 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0000505 ORPHA:254930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0000648 ORPHA:254930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0003202 ORPHA:254930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0000602 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001123 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001263 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001508 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001761 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002313 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002355 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002395 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002936 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0003477 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0003693 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0007256 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0007340 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0031629 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0100543 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0000508 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0000639 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001251 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001260 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001283 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001284 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001349 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002079 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002376 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002500 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002540 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002590 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002943 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0003380 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0003484 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0005216 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0007641 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0008947 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0011471 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0012696 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0012707 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0012747 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0020049 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0200136 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0000486 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0000649 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0001251 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0001260 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0001761 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0002061 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0003429 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0006958 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0007377 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0012896 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0000407 ORPHA:320401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0001250 ORPHA:320401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0002355 ORPHA:320401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0002839 ORPHA:320401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0003474 ORPHA:320401 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0002194 ORPHA:320401 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0001945 ORPHA:707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002840 ORPHA:707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0012378 ORPHA:707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0000739 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0000958 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0001649 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0001744 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002039 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002240 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002315 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0004372 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0008066 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0011355 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0025143 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0030953 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0031258 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0031864 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0100749 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0200042 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0000206 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0000365 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0000716 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0000969 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0000988 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0001259 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0001350 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0001892 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002013 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002014 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002027 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002037 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002098 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002105 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002248 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002317 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002615 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0002829 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0004387 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0009811 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0011499 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0011675 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0011949 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0012219 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0025043 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0025085 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0040181 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0100806 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0001287 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0001324 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0001369 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0025439 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0100533 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:707 Plague HP:0100584 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000219 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000248 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000276 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000311 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000343 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000347 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000470 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000501 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000659 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001156 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001249 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001263 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001511 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001773 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001831 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0002000 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0002263 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0002983 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0004209 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0007833 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0007957 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0008873 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000028 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000047 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000175 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000204 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000238 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000316 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000384 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000465 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000482 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000504 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000518 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000582 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000639 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000687 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001558 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001642 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001671 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001770 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0002007 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0004322 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0004414 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0004467 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0008569 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0008872 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0008897 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0011220 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0012745 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000003 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000013 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000023 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000060 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000073 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000075 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000126 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000154 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000252 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000368 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000405 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000463 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000505 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000648 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000830 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000851 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000960 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001537 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001561 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0001643 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0002023 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0002119 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0002120 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0003196 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0003298 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0005280 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0006610 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0007370 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0000612 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0008678 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0008905 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0100819 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0004383 ORPHA:709 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0005182 ORPHA:709 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:709 Peters plus syndrome HP:0030968 ORPHA:709 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:708 Peters anomaly HP:0000659 ORPHA:708 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:708 Peters anomaly HP:0000523 ORPHA:708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:708 Peters anomaly HP:0007759 ORPHA:708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:708 Peters anomaly HP:0011483 ORPHA:708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:708 Peters anomaly HP:0011493 ORPHA:708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:708 Peters anomaly HP:0031159 ORPHA:708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:708 Peters anomaly HP:0001087 ORPHA:708 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:708 Peters anomaly HP:0000486 ORPHA:708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:708 Peters anomaly HP:0000639 ORPHA:708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:703 Bullous pemphigoid HP:0000819 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:703 Bullous pemphigoid HP:0000964 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:703 Bullous pemphigoid HP:0001025 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:703 Bullous pemphigoid HP:0001824 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:703 Bullous pemphigoid HP:0002719 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:703 Bullous pemphigoid HP:0002960 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:703 Bullous pemphigoid HP:0003765 ORPHA:703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:703 Bullous pemphigoid HP:0008066 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:703 Bullous pemphigoid HP:0010783 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:703 Bullous pemphigoid HP:0012733 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0001822 ORPHA:93397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0001852 ORPHA:93397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0004691 ORPHA:93397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0009843 ORPHA:93397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0010109 ORPHA:93397 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0004209 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0008096 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0009464 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0009467 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0009523 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0009536 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0009576 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0009642 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0009700 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0010348 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0011304 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93397 Brachydactyly type A7 HP:0100394 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0000079 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0000252 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0000365 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0000505 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0000639 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0000648 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0000649 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0000708 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001249 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001250 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001251 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001252 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001257 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001266 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001288 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001332 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001387 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001531 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0001622 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0002093 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0002120 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0002167 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0002205 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0002376 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0002607 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0002650 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0002808 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0004322 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0004326 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0009830 ORPHA:702 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0100022 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:702 Pelizaeus-Merzbacher disease HP:0100026 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0000359 ORPHA:705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0000407 ORPHA:705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0008586 ORPHA:705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0011387 ORPHA:705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0000821 ORPHA:705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0000853 ORPHA:705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0000112 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0000843 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0001249 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0001251 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0002093 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0002167 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0002321 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0002777 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:705 Pendred syndrome HP:0002890 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:704 Pemphigus vulgaris HP:0000163 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:704 Pemphigus vulgaris HP:0000987 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:704 Pemphigus vulgaris HP:0001025 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:704 Pemphigus vulgaris HP:0001824 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:704 Pemphigus vulgaris HP:0002719 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:704 Pemphigus vulgaris HP:0002960 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:704 Pemphigus vulgaris HP:0008066 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:704 Pemphigus vulgaris HP:0008872 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:704 Pemphigus vulgaris HP:0100792 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:704 Pemphigus vulgaris HP:0100838 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93396 Brachydactyly type A2 HP:0001773 ORPHA:93396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93396 Brachydactyly type A2 HP:0004209 ORPHA:93396 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93396 Brachydactyly type A2 HP:0004220 ORPHA:93396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93396 Brachydactyly type A2 HP:0005819 ORPHA:93396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93396 Brachydactyly type A2 HP:0009372 ORPHA:93396 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93396 Brachydactyly type A2 HP:0009568 ORPHA:93396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93396 Brachydactyly type A2 HP:0010038 ORPHA:93396 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:701 Alopecia universalis HP:0000561 ORPHA:701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:701 Alopecia universalis HP:0002223 ORPHA:701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:701 Alopecia universalis HP:0002232 ORPHA:701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:701 Alopecia universalis HP:0002289 ORPHA:701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000280 ORPHA:93399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000943 ORPHA:93399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001263 ORPHA:93399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0003271 ORPHA:93399 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000365 ORPHA:93399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000518 ORPHA:93399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001250 ORPHA:93399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0008947 ORPHA:93399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0010729 ORPHA:93399 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000023 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000077 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000212 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000369 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000486 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000572 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000639 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0000648 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001251 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001257 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001270 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001310 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001336 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001433 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001537 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001618 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0001627 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0002015 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0002061 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0002086 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0002123 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0002240 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0003312 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0004554 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0002505 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0007957 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0009891 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0010808 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93399 Juvenile sialidosis type 2 HP:0010864 ORPHA:93399 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:700 Alopecia totalis HP:0001596 ORPHA:700 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:700 Alopecia totalis HP:0002293 ORPHA:700 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93394 Brachydactyly type A4 HP:0001762 ORPHA:93394 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93394 Brachydactyly type A4 HP:0004220 ORPHA:93394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93394 Brachydactyly type A4 HP:0004322 ORPHA:93394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93394 Brachydactyly type A4 HP:0006239 ORPHA:93394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93394 Brachydactyly type A4 HP:0009577 ORPHA:93394 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93394 Brachydactyly type A4 HP:0009773 ORPHA:93394 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000194 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000202 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000276 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000286 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000308 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000348 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000365 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000369 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000377 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000389 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000414 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000463 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000486 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000490 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000494 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000581 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000601 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000750 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000752 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0001252 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0001263 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0001511 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0001770 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0002007 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0002020 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0002342 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0002360 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0003189 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0003196 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0004279 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0004322 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0005180 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0005285 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0007328 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0007565 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0007598 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0009623 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0010535 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0011675 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0011968 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0012368 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0100033 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0100490 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1195 Congenital atransferrinemia HP:0000821 ORPHA:1195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1195 Congenital atransferrinemia HP:0001369 ORPHA:1195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1195 Congenital atransferrinemia HP:0001626 ORPHA:1195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1195 Congenital atransferrinemia HP:0001732 ORPHA:1195 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1195 Congenital atransferrinemia HP:0001903 ORPHA:1195 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1195 Congenital atransferrinemia HP:0002719 ORPHA:1195 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0002155 ORPHA:140905 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0012184 ORPHA:140905 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0001013 ORPHA:140905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0001681 ORPHA:140905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0005181 ORPHA:140905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000028 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000047 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000077 ORPHA:1194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000154 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000252 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000278 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000322 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000369 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001250 ORPHA:1194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001252 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001371 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001510 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001511 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001522 ORPHA:1194 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001562 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001635 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001639 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001641 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001646 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001987 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0002120 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0002240 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0002342 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0002383 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0002878 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0003535 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0007370 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0011343 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0011675 ORPHA:1194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0100490 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000053 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000164 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000232 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000256 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000280 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000316 ORPHA:1193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000336 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000337 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000400 ORPHA:1193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000455 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0000463 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0001249 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0001513 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0001593 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0004322 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1193 Atkin-Flaitz syndrome HP:0012471 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000028 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000093 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000100 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000112 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000407 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000822 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001276 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001288 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001327 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001337 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001376 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001633 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001903 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0002120 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0002344 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0003287 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0003307 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0004322 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001677 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0007201 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0007360 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0100545 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0100651 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140908 Brachydactyly type B2 HP:0001773 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140908 Brachydactyly type B2 HP:0001817 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140908 Brachydactyly type B2 HP:0001831 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140908 Brachydactyly type B2 HP:0001857 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140908 Brachydactyly type B2 HP:0005048 ORPHA:140908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140908 Brachydactyly type B2 HP:0005831 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140908 Brachydactyly type B2 HP:0006101 ORPHA:140908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140908 Brachydactyly type B2 HP:0009773 ORPHA:140908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140908 Brachydactyly type B2 HP:0009882 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0000774 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0001156 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0001762 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0002089 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0002991 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0003097 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0003417 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0004599 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0005257 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0008905 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0009107 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0009826 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0011800 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0000175 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0000316 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0000347 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0000369 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0000506 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0000520 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0000926 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0001373 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0001561 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0001602 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0002280 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0002650 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0003026 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0004785 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0004894 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0005562 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0007973 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0008857 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1190 Atelosteogenesis type I HP:0030992 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000713 ORPHA:276608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000825 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000842 ORPHA:276608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000975 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000980 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001249 ORPHA:276608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001250 ORPHA:276608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001254 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001259 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0002315 ORPHA:276608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001337 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001649 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001985 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0002329 ORPHA:276608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0002344 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0003162 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0003324 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0004324 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0004510 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0012051 ORPHA:276608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0012378 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0000707 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0002196 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0004947 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0012703 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0012721 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0040272 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0100561 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0001284 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0001324 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0001347 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0003418 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0007199 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0012486 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0000009 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0000011 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0000016 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0000020 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0002141 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0002317 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0002355 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0002359 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0002607 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0003401 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0003419 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0003474 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0007340 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0009053 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0012423 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0012534 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0030014 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0040307 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0002318 ORPHA:79093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79093 Foix-Alajouanine syndrome HP:0008944 ORPHA:79093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79094 Grange syndrome HP:0000822 ORPHA:79094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79094 Grange syndrome HP:0001159 ORPHA:79094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79094 Grange syndrome HP:0001328 ORPHA:79094 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79094 Grange syndrome HP:0001629 ORPHA:79094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79094 Grange syndrome HP:0001643 ORPHA:79094 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79094 Grange syndrome HP:0001659 ORPHA:79094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79094 Grange syndrome HP:0002659 ORPHA:79094 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79094 Grange syndrome HP:0004279 ORPHA:79094 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79094 Grange syndrome HP:0006889 ORPHA:79094 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79094 Grange syndrome HP:0100545 ORPHA:79094 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002575 ORPHA:1199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001531 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002013 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002015 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002091 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002205 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002579 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0003781 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0006510 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0008872 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0010963 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0012387 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0012523 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0100326 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0100633 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000079 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000119 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000961 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000980 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001510 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001518 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001561 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001604 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001607 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002020 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002021 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002098 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002835 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0003468 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0004885 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0008755 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0012252 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0012718 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0012732 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0030084 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0030680 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0040064 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0003011 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000104 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000175 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000365 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000453 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000589 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000598 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0000811 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001252 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001276 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001539 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001629 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001636 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001680 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0001999 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002089 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002247 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002566 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002650 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0002672 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0008751 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0009800 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0100580 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1199 Esophageal atresia HP:0410030 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1198 Colonic atresia HP:0001539 ORPHA:1198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1198 Colonic atresia HP:0001543 ORPHA:1198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1198 Colonic atresia HP:0003270 ORPHA:1198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1198 Colonic atresia HP:0003363 ORPHA:1198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1198 Colonic atresia HP:0004398 ORPHA:1198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1198 Colonic atresia HP:0010448 ORPHA:1198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1198 Colonic atresia HP:0100016 ORPHA:1198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1198 Colonic atresia HP:0100867 ORPHA:1198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0003236 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0005978 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0011892 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0030516 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0100753 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0200084 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0012379 ORPHA:79095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0000580 ORPHA:79095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001250 ORPHA:79095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001298 ORPHA:79095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001328 ORPHA:79095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0007141 ORPHA:79095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0000135 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0000518 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0000716 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0000763 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001081 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001251 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001268 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001337 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002076 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002354 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002401 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002573 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002611 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002910 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0003201 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0002133 ORPHA:79096 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0200134 ORPHA:79096 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0000496 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001250 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001263 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001276 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001336 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001508 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001560 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001622 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001942 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001943 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0002151 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0002283 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0002317 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0003785 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0005961 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0008936 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010851 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0011968 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0025430 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0030917 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0000252 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0005522 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010895 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010900 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010904 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010909 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010917 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0001250 ORPHA:79097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0001251 ORPHA:79097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0001263 ORPHA:79097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0012446 ORPHA:79097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0000708 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0000729 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0001272 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0001298 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002098 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0003270 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0004302 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0006808 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0010841 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0010845 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0012448 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0040204 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0000407 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0000545 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0000648 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0000737 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0001276 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0001285 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0001332 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0001347 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002072 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002104 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002123 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002133 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002136 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002355 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002360 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002376 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002465 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0002521 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0006892 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0010819 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0020221 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79097 Folinic acid-responsive seizures HP:0100022 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93387 Brachydactyly type E HP:0000256 ORPHA:93387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93387 Brachydactyly type E HP:0002007 ORPHA:93387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93387 Brachydactyly type E HP:0004322 ORPHA:93387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93387 Brachydactyly type E HP:0005692 ORPHA:93387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93387 Brachydactyly type E HP:0005863 ORPHA:93387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93387 Brachydactyly type E HP:0009882 ORPHA:93387 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93387 Brachydactyly type E HP:0010049 ORPHA:93387 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93387 Brachydactyly type E HP:0010076 ORPHA:93387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93387 Brachydactyly type E HP:0010743 ORPHA:93387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93387 Brachydactyly type E HP:0100560 ORPHA:93387 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0001370 ORPHA:79099 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0010783 ORPHA:79099 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0003565 ORPHA:79099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0011123 ORPHA:79099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0011227 ORPHA:79099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0200034 ORPHA:79099 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0002923 ORPHA:79099 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0000989 ORPHA:79099 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0001231 ORPHA:93384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0004209 ORPHA:93384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0004322 ORPHA:93384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0005819 ORPHA:93384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0009373 ORPHA:93384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0009465 ORPHA:93384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0009495 ORPHA:93384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0009606 ORPHA:93384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0009684 ORPHA:93384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0009773 ORPHA:93384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0010026 ORPHA:93384 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0010508 ORPHA:93384 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0010579 ORPHA:93384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93384 Brachydactyly type C HP:0010743 ORPHA:93384 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0001204 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0001230 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0001762 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0001773 ORPHA:93388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0002650 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0003022 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0004209 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0004322 ORPHA:93388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0005819 ORPHA:93388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0009778 ORPHA:93388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0010109 ORPHA:93388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93388 Brachydactyly type A1 HP:0010579 ORPHA:93388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0000218 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001270 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001284 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001290 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001763 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003198 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003325 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003403 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003473 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003701 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0030191 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0030202 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0030205 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0100301 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0000508 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001371 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001388 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002355 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002359 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002421 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002515 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002650 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002938 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003200 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003236 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003388 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003391 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003394 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003551 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003691 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003803 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0006380 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0009028 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0009046 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0010628 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002460 ORPHA:353327 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000047 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000175 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000252 ORPHA:261204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000545 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000709 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000717 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000767 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0001249 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0001250 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0001263 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0001332 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0002463 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0007018 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0100753 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000083 ORPHA:730 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000107 ORPHA:730 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0001407 ORPHA:730 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0003259 ORPHA:730 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012213 ORPHA:730 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000790 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000822 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0003774 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012531 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012591 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012592 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012622 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000010 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000105 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000787 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0001634 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0001737 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0002616 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0004944 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0006557 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0011004 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012207 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012330 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0100702 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:730 Autosomal dominant polycystic kidney disease HP:0011760 ORPHA:730 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0001508 ORPHA:92050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0002024 ORPHA:92050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0002028 ORPHA:92050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0011473 ORPHA:92050 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0000737 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0001824 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0001944 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0002570 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0003270 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0005208 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0025129 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0032486 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0000518 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0000613 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0000951 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0001369 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0025090 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0200020 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0000202 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0000453 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0000588 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0002013 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0002023 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0002611 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0002652 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:92050 Congenital tufting enteropathy HP:0011859 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93383 Brachydactyly type B HP:0001773 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93383 Brachydactyly type B HP:0001817 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93383 Brachydactyly type B HP:0005831 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93383 Brachydactyly type B HP:0008083 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93383 Brachydactyly type B HP:0009882 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93383 Brachydactyly type B HP:0010049 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93383 Brachydactyly type B HP:0005048 ORPHA:93383 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93383 Brachydactyly type B HP:0006101 ORPHA:93383 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93383 Brachydactyly type B HP:0009773 ORPHA:93383 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93383 Brachydactyly type B HP:0010059 ORPHA:93383 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0000164 ORPHA:1184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0000218 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0000486 ORPHA:1184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0000958 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0000992 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0001025 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0001251 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0001288 ORPHA:1184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0001315 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0030680 ORPHA:1184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0002967 ORPHA:1184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0004209 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0004322 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0007598 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0100022 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0100543 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0000570 ORPHA:1183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0001251 ORPHA:1183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0001336 ORPHA:1183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0002360 ORPHA:1183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0010543 ORPHA:1183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0000708 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0000737 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0002321 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0002664 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0003006 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0045084 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0100543 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0001298 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0002063 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0002861 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0003002 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0012226 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0030057 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0030357 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0031035 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0100526 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1182 Spastic ataxia with congenital miosis HP:0000639 ORPHA:1182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1182 Spastic ataxia with congenital miosis HP:0001250 ORPHA:1182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1182 Spastic ataxia with congenital miosis HP:0001251 ORPHA:1182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1182 Spastic ataxia with congenital miosis HP:0001260 ORPHA:1182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1182 Spastic ataxia with congenital miosis HP:0001347 ORPHA:1182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1182 Spastic ataxia with congenital miosis HP:0002497 ORPHA:1182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1182 Spastic ataxia with congenital miosis HP:0004374 ORPHA:1182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1182 Spastic ataxia with congenital miosis HP:0007728 ORPHA:1182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome HP:0000044 ORPHA:1180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome HP:0001251 ORPHA:1180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome HP:0001135 ORPHA:1180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000956 ORPHA:140936 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000966 ORPHA:140936 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0008070 ORPHA:140936 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000153 ORPHA:140936 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000221 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000668 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000972 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0001249 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0008404 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0010802 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000276 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000303 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000577 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000582 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0000670 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0001045 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0001620 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0005338 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0007646 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0008388 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0011367 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140936 Lelis syndrome HP:0011800 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0000347 ORPHA:140941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0000823 ORPHA:140941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0002750 ORPHA:140941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0000855 ORPHA:140941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0001510 ORPHA:140941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0001956 ORPHA:140941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0030353 ORPHA:140941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0000174 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0000407 ORPHA:1188 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0000486 ORPHA:1188 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0000639 ORPHA:1188 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0000762 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0001249 ORPHA:1188 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0001251 ORPHA:1188 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0001252 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0001315 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0002119 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0002120 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0002167 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0002650 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0003202 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0003457 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0005692 ORPHA:1188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0007360 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0000225 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0000360 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0000421 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0000822 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0000978 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0000989 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0001297 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0001409 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0001681 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0001744 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0001824 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002027 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002093 ORPHA:729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002204 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002239 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002240 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002315 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002321 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002488 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002639 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002829 ORPHA:729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0002863 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0004417 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0004420 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0004936 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0011974 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0012378 ORPHA:729 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:729 Polycythemia vera HP:0030242 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000822 ORPHA:79083 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000855 ORPHA:79083 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0100578 ORPHA:79083 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000819 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000831 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000991 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0002155 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0002240 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003635 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003712 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0008065 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000869 ORPHA:79083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000963 ORPHA:79083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0002621 ORPHA:79083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003712 ORPHA:79083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000147 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000292 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000876 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000956 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001397 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001635 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001639 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001677 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001733 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001744 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0002149 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0002230 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003198 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003326 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003707 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0009800 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0012084 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0100607 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000786 ORPHA:79083 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001394 ORPHA:79083 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0007457 ORPHA:79083 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0000083 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0000093 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0000407 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0000491 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0000509 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0000518 ORPHA:728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0000554 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0000790 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0000979 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0001369 ORPHA:728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0001376 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0001545 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0001596 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0001601 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0001646 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0001701 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0002094 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0002321 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0002617 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0002793 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0002829 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0004306 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0004418 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0004422 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0004936 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0005310 ORPHA:728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0006824 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0010783 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0011107 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0012115 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0012733 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0012735 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0012819 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0100532 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0100533 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0100534 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0100662 ORPHA:728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0100750 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0100758 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0100820 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:728 Relapsing polychondritis HP:0200047 ORPHA:728 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000147 ORPHA:79084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000819 ORPHA:79084 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000822 ORPHA:79084 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000842 ORPHA:79084 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000855 ORPHA:79084 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000956 ORPHA:79084 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000991 ORPHA:79084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0001397 ORPHA:79084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0001677 ORPHA:79084 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0001733 ORPHA:79084 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0002240 ORPHA:79084 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0100578 ORPHA:79084 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0000505 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0000618 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0000648 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0001324 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0002300 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0002719 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0002788 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0003431 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0003444 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0007258 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0007377 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0008527 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0030272 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0032169 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0000467 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0000639 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0001251 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0001256 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0001270 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0001284 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0002342 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0002445 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0003537 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0004887 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0008311 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0008936 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0009830 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0011185 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0011476 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0012389 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0000365 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0000602 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0000648 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0001251 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0001315 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0002270 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0100022 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0000855 ORPHA:79085 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0009125 ORPHA:79085 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0000956 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0001397 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0002155 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0002240 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0003292 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0003077 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0008993 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0030685 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0000147 ORPHA:79085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0000831 ORPHA:79085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0000876 ORPHA:79085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000256 ORPHA:1185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000268 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000286 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000337 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000368 ORPHA:1185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000463 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000508 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000520 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000639 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000648 ORPHA:1185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000974 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0001252 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0001263 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0002208 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0002714 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0002816 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0002967 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0003100 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0003196 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0003298 ORPHA:1185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0003457 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0004322 ORPHA:1185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0004349 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0005692 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0007360 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0012471 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0009064 ORPHA:79086 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0000842 ORPHA:79086 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0000855 ORPHA:79086 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0000831 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0001397 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0001638 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0002960 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0003119 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0003707 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0005328 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0011025 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0000093 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0000147 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0000822 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0000956 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0001394 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0001735 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0002155 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0002230 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0002240 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0003198 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0005339 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0005616 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0007440 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0012490 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0002665 ORPHA:79086 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0009592 ORPHA:79086 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79086 Acquired generalized lipodystrophy HP:0012064 ORPHA:79086 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0100578 ORPHA:79087 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0000365 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0001249 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0001250 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0002960 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0003198 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0005328 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0005421 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0100827 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0000093 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0000855 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0001397 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0002230 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0002721 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0002829 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0002907 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79087 Acquired partial lipodystrophy HP:0100820 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0001250 ORPHA:725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0011182 ORPHA:725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0031491 ORPHA:725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0001249 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0002069 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0002349 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0002376 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0002384 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0006813 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0007270 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0007359 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0011153 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0012010 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0012557 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0100543 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0000718 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0000729 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0001332 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0001345 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0002266 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0002312 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0002333 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0002381 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0002487 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0009088 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0010819 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0011098 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0011147 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0011150 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:725 Continuous spikes and waves during sleep HP:0012001 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0001879 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0001945 ORPHA:724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002027 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002093 ORPHA:724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002103 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002091 ORPHA:724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002113 ORPHA:724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002793 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0003326 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0012735 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0100749 ORPHA:724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002668 ORPHA:276621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0006737 ORPHA:276621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0006748 ORPHA:276621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000093 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000096 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000740 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001069 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001095 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001342 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001618 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001824 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001962 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002018 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002331 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002574 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002640 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002864 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0003072 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0003345 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0003574 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0003639 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0008629 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0010532 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0011703 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0011979 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0012378 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0031284 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0100749 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000405 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000790 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000980 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001293 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001337 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001605 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001635 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0025269 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0000083 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0000246 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0000421 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0000554 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0000790 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0000965 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0000988 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0001369 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0001482 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0001635 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0001701 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0001733 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0001933 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0001945 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0002014 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0002017 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0002027 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0002105 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0002239 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0002586 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0002633 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0002829 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0002960 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0003326 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0003401 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0004936 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0005244 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0008046 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0009830 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0010783 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0011675 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0012649 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0100520 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0100534 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0100758 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0100820 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:727 Microscopic polyangiitis HP:0200042 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0000252 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0000478 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0000504 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0000618 ORPHA:726 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0001251 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0001252 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0001257 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0001259 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0001263 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0001266 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0001284 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0001336 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0002069 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0002191 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0002313 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0002376 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0002385 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0007359 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:726 Alpers-Huttenlocher syndrome HP:0100022 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:721 Gray platelet syndrome HP:0000978 ORPHA:721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:721 Gray platelet syndrome HP:0001872 ORPHA:721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:721 Gray platelet syndrome HP:0001873 ORPHA:721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:721 Gray platelet syndrome HP:0001892 ORPHA:721 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:721 Gray platelet syndrome HP:0000140 ORPHA:721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:721 Gray platelet syndrome HP:0000421 ORPHA:721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:721 Gray platelet syndrome HP:0001744 ORPHA:721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:721 Gray platelet syndrome HP:0002863 ORPHA:721 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:720 Pili bifurcati HP:0001595 ORPHA:720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:720 Pili bifurcati HP:0010719 ORPHA:720 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0001945 ORPHA:723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0002094 ORPHA:723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0011949 ORPHA:723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0012418 ORPHA:723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0020102 ORPHA:723 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0001824 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0002093 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0002202 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0002721 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0002875 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0002878 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0004887 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0006515 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0010702 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0011991 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0025395 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0031246 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0002664 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0005948 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0009098 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0025435 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0031863 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:723 Pneumocystosis HP:0032177 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0000478 ORPHA:722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0000504 ORPHA:722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0040228 ORPHA:722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0000212 ORPHA:722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0000230 ORPHA:722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0000137 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0000238 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0000370 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0000704 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0000787 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0000951 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0001305 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0002086 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0002588 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0011027 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:722 Hypoplasminogenemia HP:0030160 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001270 ORPHA:435638 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000356 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000448 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000494 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000733 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000750 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001252 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001344 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0002002 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0005280 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000175 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000219 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000248 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000286 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000303 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000322 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000341 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000347 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000407 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000463 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000568 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000581 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000729 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0000960 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001182 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001233 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001251 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001629 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001631 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001642 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001643 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001677 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0001845 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0002021 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0002069 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0002121 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0002123 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0002650 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0002705 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0002714 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0003086 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0003202 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0006380 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0006585 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0007018 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0009623 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0010055 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0010663 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0011304 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0012762 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435638 3p25.3 microdeletion syndrome HP:0100259 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000044 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000135 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000144 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000248 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000512 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000639 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000648 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000708 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000726 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000751 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000771 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000864 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0001251 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0001252 ORPHA:1173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0002167 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0002558 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0004209 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0004322 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0004374 ORPHA:1173 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0007703 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0000407 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0000648 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001251 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001284 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001298 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001324 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0000496 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0000729 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001250 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001332 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001761 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0002015 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0100543 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0000640 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0000750 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001249 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001251 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001260 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001263 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001310 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0002066 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0031936 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0000657 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001252 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001272 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001324 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001348 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001763 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0002275 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0002506 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0006855 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0007272 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0100543 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0000602 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001257 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001337 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0002198 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0002280 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0003128 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0004322 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0009830 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0010794 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0008222 ORPHA:488191 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0031515 ORPHA:488191 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0031516 ORPHA:488191 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0020155 ORPHA:488191 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0000147 ORPHA:488191 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0008669 ORPHA:488191 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1179 Benign paroxysmal tonic upgaze of childhood with ataxia HP:0000496 ORPHA:1179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1179 Benign paroxysmal tonic upgaze of childhood with ataxia HP:0000639 ORPHA:1179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1179 Benign paroxysmal tonic upgaze of childhood with ataxia HP:0002131 ORPHA:1179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001249 ORPHA:572798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001263 ORPHA:572798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0008947 ORPHA:572798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0100022 ORPHA:572798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000718 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001250 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001272 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001324 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001347 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001511 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002059 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002119 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002151 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002167 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002342 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002355 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002451 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002509 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002518 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0003128 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0003700 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0009062 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0012379 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0012430 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0012448 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000218 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000219 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000316 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000369 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000431 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000510 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000577 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000639 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000646 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001251 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001310 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001320 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001337 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001344 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001638 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001873 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001998 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001999 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002015 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002187 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002198 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002305 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002352 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002365 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002421 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002510 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0003698 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0005656 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0006956 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0007772 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0012704 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0031165 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0000639 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0001251 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0001252 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0001288 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0007360 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0100543 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0000505 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0000510 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0000580 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140933 Linear atrophoderma of Moulin HP:0007546 ORPHA:140933 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:140933 Linear atrophoderma of Moulin HP:0000989 ORPHA:140933 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:140933 Linear atrophoderma of Moulin HP:0011123 ORPHA:140933 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:140933 Linear atrophoderma of Moulin HP:0030053 ORPHA:140933 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:140933 Linear atrophoderma of Moulin HP:0100324 ORPHA:140933 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:718 Isolated Pierre Robin syndrome HP:0000162 ORPHA:718 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:718 Isolated Pierre Robin syndrome HP:0000175 ORPHA:718 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:718 Isolated Pierre Robin syndrome HP:0000347 ORPHA:718 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:718 Isolated Pierre Robin syndrome HP:0000600 ORPHA:718 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:718 Isolated Pierre Robin syndrome HP:0002643 ORPHA:718 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:718 Isolated Pierre Robin syndrome HP:0002781 ORPHA:718 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0002073 ORPHA:1177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0000639 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0001260 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0002015 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0003474 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0006895 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0007083 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0007240 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0007256 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0007350 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0008003 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0001761 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0002061 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0002650 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0003115 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0003700 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0007340 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0010794 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0100543 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0200101 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0000648 ORPHA:1177 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0000819 ORPHA:1177 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0001638 ORPHA:1177 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0005775 ORPHA:1177 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002073 ORPHA:1175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0000639 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0001152 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0001270 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0001310 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0001347 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0001761 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002070 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002075 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002080 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002312 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002317 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002359 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002464 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002503 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002650 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0003445 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0003447 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0006855 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0007141 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0007240 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0008944 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0200101 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002395 ORPHA:1175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0003487 ORPHA:1175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1175 X-linked progressive cerebellar ataxia HP:0009027 ORPHA:1175 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000023 ORPHA:1174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000028 ORPHA:1174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000325 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000337 ORPHA:1174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000668 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000691 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0001251 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0001288 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0001761 ORPHA:1174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0002167 ORPHA:1174 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0002213 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0008070 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002239 ORPHA:79076 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002014 ORPHA:79076 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0004326 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002243 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0000256 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001031 ORPHA:79076 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0010797 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001999 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002003 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0000316 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0000494 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0005280 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0000369 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0000160 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0000331 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001256 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0004390 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002027 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002573 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001903 ORPHA:79076 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002249 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0005505 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0003073 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002584 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002576 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002035 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0100759 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001627 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001290 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001270 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001631 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001643 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0004322 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0006608 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001028 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001249 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0001892 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0005227 ORPHA:79076 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0030257 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002007 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0002705 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0011304 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79076 Juvenile polyposis of infancy HP:0010174 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0000750 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001249 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001251 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001263 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001324 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001337 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001878 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001923 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0002076 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0002904 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0002913 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0003198 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0003201 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0003394 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0003738 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0009020 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0012638 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0020062 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0000083 ORPHA:713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0000556 ORPHA:713 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0000618 ORPHA:713 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:716 Phenylketonuria HP:0030680 ORPHA:716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:716 Phenylketonuria HP:0003355 ORPHA:716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:716 Phenylketonuria HP:0010864 ORPHA:716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0007734 ORPHA:79078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0010286 ORPHA:79078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0010287 ORPHA:79078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0032300 ORPHA:79078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0011801 ORPHA:79078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000217 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000282 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000315 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000520 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000587 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000629 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0001097 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0001824 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0001945 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0002960 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0003261 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0003324 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0003493 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0003496 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0008049 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0012378 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0032230 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0100540 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0100614 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000618 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0001873 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0001970 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0002716 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0005200 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0005994 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0007807 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0011481 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0100646 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000232 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000316 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000445 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000494 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000674 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000677 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000709 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000716 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000767 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000768 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0001176 ORPHA:276630 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0001182 ORPHA:276630 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0001250 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0001252 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0001513 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0002007 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0030680 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0002650 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0002808 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0004322 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0007302 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000194 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000218 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000262 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000303 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000316 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000322 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000324 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000348 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000431 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000470 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0000508 ORPHA:710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0001156 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0001385 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0003307 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0004209 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0004322 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0005048 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0006101 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0009773 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0010669 ORPHA:710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0011304 ORPHA:710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:710 Pfeiffer syndrome HP:0012368 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0003204 ORPHA:168486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001257 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0010536 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0032794 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002643 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0003236 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0025435 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0010851 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001321 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0006872 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002119 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001302 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0007162 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002171 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001274 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002878 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0012379 ORPHA:168486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002133 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0007190 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0100707 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001272 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0003657 ORPHA:168486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001250 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002104 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0000252 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0000369 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0008772 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001171 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0000431 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0000340 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2492 FATCO syndrome HP:0001171 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2492 FATCO syndrome HP:0001622 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2492 FATCO syndrome HP:0001626 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2492 FATCO syndrome HP:0002093 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2492 FATCO syndrome HP:0002991 ORPHA:2492 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2492 FATCO syndrome HP:0002992 ORPHA:2492 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2492 FATCO syndrome HP:0004050 ORPHA:2492 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2492 FATCO syndrome HP:0004322 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2492 FATCO syndrome HP:0006101 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2492 FATCO syndrome HP:0008368 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1160 Chylous ascites HP:0000501 ORPHA:1160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1160 Chylous ascites HP:0001004 ORPHA:1160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1160 Chylous ascites HP:0001482 ORPHA:1160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1160 Chylous ascites HP:0001541 ORPHA:1160 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1160 Chylous ascites HP:0001733 ORPHA:1160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1160 Chylous ascites HP:0002242 ORPHA:1160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1160 Chylous ascites HP:0002664 ORPHA:1160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0000252 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0000486 ORPHA:2491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0000821 ORPHA:2491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0001162 ORPHA:2491 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0001171 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0002983 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0003019 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0003762 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0004322 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0005792 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0006495 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0007477 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0008736 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0009811 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1168 Ataxia-oculomotor apraxia type 1 HP:0000707 ORPHA:1168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1168 Ataxia-oculomotor apraxia type 1 HP:0001251 ORPHA:1168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1168 Ataxia-oculomotor apraxia type 1 HP:0001288 ORPHA:1168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1168 Ataxia-oculomotor apraxia type 1 HP:0009830 ORPHA:1168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1168 Ataxia-oculomotor apraxia type 1 HP:0010747 ORPHA:1168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0002155 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0002240 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0003236 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0003292 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0003077 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0008993 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0009017 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000468 ORPHA:435660 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000855 ORPHA:435660 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0003635 ORPHA:435660 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0009125 ORPHA:435660 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000147 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000831 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000876 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000956 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0001397 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0003712 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0012881 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0030685 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0008994 ORPHA:435660 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0008997 ORPHA:435660 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2499 Metachondromatosis HP:0000944 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2499 Metachondromatosis HP:0002653 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2499 Metachondromatosis HP:0005701 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2499 Metachondromatosis HP:0005930 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2499 Metachondromatosis HP:0006824 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2499 Metachondromatosis HP:0010885 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2499 Metachondromatosis HP:0100777 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140966 Palmoplantar keratoderma, Nagashima type HP:0000975 ORPHA:140966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140966 Palmoplantar keratoderma, Nagashima type HP:0000982 ORPHA:140966 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000028 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000076 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000175 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000178 ORPHA:1166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000252 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000347 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000776 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001263 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001276 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001387 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001629 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001636 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001679 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0002086 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0002093 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0002120 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0030680 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0003272 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0003422 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0004322 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0004414 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0005562 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0011333 ORPHA:1166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000411 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0008678 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0009804 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2497 Upper limb mesomelic dysplasia HP:0002986 ORPHA:2497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2497 Upper limb mesomelic dysplasia HP:0003022 ORPHA:2497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2497 Upper limb mesomelic dysplasia HP:0009465 ORPHA:2497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000347 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000494 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000506 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000508 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0001155 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0001156 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0005916 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0001387 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0001440 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0001760 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0001773 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0002652 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0002705 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0002983 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0002992 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0003019 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0003027 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0003063 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0004209 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0004322 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0005048 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0009465 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0010293 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0100240 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0002823 ORPHA:2496 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000126 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000160 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000190 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000272 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000325 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000343 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000365 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000414 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000444 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000534 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0000545 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0001537 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0002815 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0002857 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0003028 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2496 Mesomelia-synostoses syndrome HP:0030680 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0001231 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0001824 ORPHA:1164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0001879 ORPHA:1164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002092 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002093 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002097 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002099 ORPHA:1164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002105 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0025426 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002110 ORPHA:1164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002120 ORPHA:1164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002715 ORPHA:1164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0011134 ORPHA:1164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0012735 ORPHA:1164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0010997 ORPHA:2495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0011133 ORPHA:2495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0100009 ORPHA:2495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000044 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000141 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000802 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000870 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0001250 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0002017 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0002315 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0002920 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0007359 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0008163 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0008214 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0040171 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0008240 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0008245 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0012658 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0012691 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0030341 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0030344 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0030521 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000238 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000602 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0001067 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0001085 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0001251 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0001269 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0001317 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0001513 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0002354 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0002355 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0002516 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0003484 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0004302 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0004408 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0006824 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0007340 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0007715 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0007924 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0008202 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0008237 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0010628 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0011442 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0011730 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0011750 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0012246 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0012285 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0012505 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0030532 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0030591 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0100010 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0100543 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0100661 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000020 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000360 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000520 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000618 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0000712 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0001262 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0001279 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0001342 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0002167 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0002512 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0003418 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0006520 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0008069 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0010534 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0010828 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0011752 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0030766 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0030878 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0045026 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2495 Meningioma HP:0100648 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0004295 ORPHA:2494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0005246 ORPHA:2494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0001824 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0002013 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0002018 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0002027 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0003073 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0003075 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0004395 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0005202 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0012398 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0025406 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0002014 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0002020 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0002039 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0002239 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0004394 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0004396 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0004840 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0012126 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2494 Ménétrier disease HP:0001907 ORPHA:2494 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0012735 ORPHA:1163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0020153 ORPHA:1163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0001875 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0001880 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0001945 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002105 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002113 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002721 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0006528 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0025179 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0030878 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0032016 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0032177 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0100749 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0000077 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0000246 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0000491 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0000505 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0000620 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0001626 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0001742 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002031 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002090 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002094 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002099 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002102 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002206 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002207 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002315 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0003212 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0004377 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0006510 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0006516 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0011355 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0012115 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0020103 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0031417 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0100326 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0200026 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0000629 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0000772 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0000925 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0001250 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0001287 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0001297 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002110 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002170 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002202 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002383 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002693 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0002754 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0004302 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0005607 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0011314 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0011450 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1163 Aspergillosis HP:0011531 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000160 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000174 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000201 ORPHA:1150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000233 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000293 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000346 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000347 ORPHA:1150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000364 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000366 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000368 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000581 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001181 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001231 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001250 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001252 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001387 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001511 ORPHA:1150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001561 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0002353 ORPHA:1150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0002714 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0003043 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0004322 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0010751 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0011344 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0000567 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0000708 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0000995 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0001072 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0001249 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0001250 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0001269 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0001305 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0001522 ORPHA:2481 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0002119 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0002170 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0002230 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0002269 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0002308 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0002353 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0002383 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0002435 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0002664 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0002861 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0003396 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0004936 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0005603 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0006824 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0007360 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0007440 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0007703 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2481 Neurocutaneous melanocytosis HP:0008678 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0000982 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0001155 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0001760 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0007404 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0011123 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0031190 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0000975 ORPHA:87503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0001218 ORPHA:87503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0001371 ORPHA:87503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0010783 ORPHA:87503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0025092 ORPHA:87503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0008064 ORPHA:87503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:87503 Mal de Meleda HP:0031452 ORPHA:87503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0000617 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001249 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001251 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001260 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001263 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001272 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001288 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0002070 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0002078 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0000639 ORPHA:284271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0002015 ORPHA:284271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0002317 ORPHA:284271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0007979 ORPHA:284271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0008665 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000066 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000076 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000083 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000085 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000086 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000104 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000219 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000394 ORPHA:140952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000414 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000431 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000506 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000545 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000556 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000625 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000813 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0001250 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0001659 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0001671 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0001770 ORPHA:140952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0002023 ORPHA:140952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0002984 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0003396 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0004209 ORPHA:140952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0004322 ORPHA:140952 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0004415 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0007754 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0011560 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0003635 ORPHA:435651 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0009125 ORPHA:435651 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0000147 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0000831 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0000876 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0000956 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0001397 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0001733 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0002155 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0002240 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0003292 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0003077 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0008981 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0009017 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0003712 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0030685 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0000292 ORPHA:435651 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0000926 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0001386 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002515 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002655 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003301 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0004267 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0005195 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0001225 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0001324 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0001376 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0001384 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002650 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002815 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002829 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003388 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003423 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0004322 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0004582 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0004603 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0006256 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0008422 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0009473 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0009811 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0011406 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0012385 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0000464 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002812 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002857 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002867 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002970 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003043 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003307 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003370 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003371 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0004568 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0006247 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0006429 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0008833 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0010580 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0025477 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0040160 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0100864 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002923 ORPHA:1159 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0025021 ORPHA:1159 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0032436 ORPHA:1159 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0000365 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0000567 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0001263 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0001511 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0002750 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0009738 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0009739 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0009778 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0010049 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0000028 ORPHA:2489 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0000286 ORPHA:2489 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0000518 ORPHA:2489 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000047 ORPHA:2487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000069 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000368 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000400 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000470 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000960 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0001622 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0001743 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0002093 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0030680 ORPHA:2487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0002992 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0100559 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002015 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0410151 ORPHA:411696 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0100633 ORPHA:411696 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002020 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002013 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0011968 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002027 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0030914 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0500093 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0004789 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0410328 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0001025 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0500095 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002099 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0003193 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0001047 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0410227 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0000737 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0008872 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0001508 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002018 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0410019 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0100749 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0031984 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0031985 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0031858 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0010450 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0410152 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002032 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000023 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000325 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000400 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000490 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000505 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000508 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000512 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000602 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000648 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000767 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0001166 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0001387 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0001776 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0004097 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0005879 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0010489 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0010751 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0000924 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0001004 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0001387 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0001508 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0002652 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0002653 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0002829 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0003202 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0006824 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0011001 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0011987 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0100774 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0100559 ORPHA:2485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0100560 ORPHA:2485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0000987 ORPHA:2485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0001369 ORPHA:2485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2485 Melorheostosis HP:0100784 ORPHA:2485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000270 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000316 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000336 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000347 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000520 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000774 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000944 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0003103 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0004322 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0006487 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0010306 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000076 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000126 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000293 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000324 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000365 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000684 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000692 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000772 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0000894 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0001671 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0002007 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0002205 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0002650 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0002673 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0002827 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0002879 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0003172 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0004493 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0005692 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0009771 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0009882 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0010230 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0001539 ORPHA:2484 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2484 Melnick-Needles syndrome HP:0002093 ORPHA:2484 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0000158 ORPHA:2483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0000221 ORPHA:2483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0000298 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0000639 ORPHA:2483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0000969 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0001945 ORPHA:2483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0012332 ORPHA:2483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0002716 ORPHA:2483 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0006824 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0010471 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0010628 ORPHA:2483 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0011123 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0100539 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2483 Melkersson-Rosenthal syndrome HP:0100825 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0002202 ORPHA:50251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0000765 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0001824 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0002094 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0002098 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0002103 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0012735 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0025142 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0100749 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0002015 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0002088 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0002240 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0002716 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0002795 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0007011 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0011025 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:50251 Pleural mesothelioma HP:0031041 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002073 ORPHA:284289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0012379 ORPHA:284289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000508 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000608 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000641 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001152 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001260 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001272 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001310 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001347 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001348 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001350 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001761 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002070 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002078 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002197 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002380 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0003457 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0007240 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0008969 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0010545 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0011448 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000503 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000518 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000651 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000666 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001256 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002080 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000028 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000174 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000303 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000316 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000322 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000336 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000347 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000368 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000400 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000411 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000430 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000448 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000486 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000508 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000664 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000689 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0000767 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0001249 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0030680 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0002650 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0002808 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0004322 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0004326 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0007598 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0010318 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0010807 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2471 McDonough syndrome HP:0012745 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0000528 ORPHA:2470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0000568 ORPHA:2470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0001249 ORPHA:2470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0000776 ORPHA:2470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0002088 ORPHA:2470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0002089 ORPHA:2470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0030680 ORPHA:2470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0000028 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0000076 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0000085 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0000089 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0000130 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0000369 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0001252 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0001508 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0001511 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0001734 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0025408 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0100800 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2470 Matthew-Wood syndrome HP:0100867 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0000639 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0000750 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0001260 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0001265 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0001270 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0002066 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0002070 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0002839 ORPHA:284282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000194 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000218 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000232 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000252 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000256 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000286 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000316 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000322 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000347 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000407 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000411 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000431 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000483 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000485 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000494 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000545 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000593 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000639 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000733 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000821 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000938 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001182 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001249 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001250 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001251 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001252 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001263 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002007 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002167 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002353 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002650 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002808 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002970 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0003124 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0004322 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0005692 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0007676 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0009891 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0010508 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0010978 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0100693 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0000218 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0000275 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0000347 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0000411 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0000431 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0000465 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0000470 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0001181 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0001387 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0002650 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0003049 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0003272 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0003422 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0004322 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0006501 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0007598 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0008368 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0009465 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0010557 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1147 Sheldon-Hall syndrome HP:0100830 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1146 Distal arthrogryposis type 1 HP:0000160 ORPHA:1146 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1146 Distal arthrogryposis type 1 HP:0001181 ORPHA:1146 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1146 Distal arthrogryposis type 1 HP:0001387 ORPHA:1146 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1146 Distal arthrogryposis type 1 HP:0001838 ORPHA:1146 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1146 Distal arthrogryposis type 1 HP:0001883 ORPHA:1146 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1146 Distal arthrogryposis type 1 HP:0003272 ORPHA:1146 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1146 Distal arthrogryposis type 1 HP:0009465 ORPHA:1146 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1146 Distal arthrogryposis type 1 HP:0010557 ORPHA:1146 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1146 Distal arthrogryposis type 1 HP:0100490 ORPHA:1146 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0000040 ORPHA:2477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0000053 ORPHA:2477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0000235 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0000256 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0000268 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0000269 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0000307 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0000431 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0000470 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0000490 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0001249 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0001631 ORPHA:2477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0001956 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0002007 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0002750 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2477 Megalencephaly HP:0002857 ORPHA:2477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0000175 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0001543 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0001629 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0002323 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0002414 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0004383 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0004397 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0006501 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0100335 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0001284 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002033 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002398 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0003202 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0003445 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0004303 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0006802 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0000218 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0000773 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0000887 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0001220 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002058 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002093 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002098 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002425 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002804 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002987 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0003273 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0003701 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0006380 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0006466 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0007269 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0008947 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0009071 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0020110 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0000028 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0001290 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0001308 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002009 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002460 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002518 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002751 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0003324 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0007178 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0008180 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0030319 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0100543 ORPHA:1145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0000407 ORPHA:1144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0001166 ORPHA:1144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0001387 ORPHA:1144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0004322 ORPHA:1144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0004326 ORPHA:1144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0000174 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0000268 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0000286 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0000316 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0000368 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0000486 ORPHA:2475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0000545 ORPHA:2475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0000592 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0000772 ORPHA:2475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0000912 ORPHA:2475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0001631 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0002002 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0002086 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0002211 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0002750 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0003298 ORPHA:2475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0004209 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0005692 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2475 White forelock with malformations HP:0006101 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0001015 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0001528 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0006496 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0012721 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0025104 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0040064 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0100555 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0100585 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0000969 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0002753 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0002984 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0003022 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0004936 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0005792 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0010484 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0011804 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0100671 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0001155 ORPHA:75508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0001760 ORPHA:75508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0003401 ORPHA:75508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:75508 Angioosteohypotrophic syndrome HP:0009824 ORPHA:75508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001371 ORPHA:1143 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0003444 ORPHA:1143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001239 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001284 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002987 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0003202 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0003484 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0006380 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0006466 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0007340 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0008180 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0000316 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0000347 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001357 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001558 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001562 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001623 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001627 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001838 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002058 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002098 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002380 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002650 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002747 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002827 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0003273 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0007477 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0008110 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0008807 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0010781 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0011968 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0030799 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0410263 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0000003 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0000028 ORPHA:2473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0000126 ORPHA:2473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0000175 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0000218 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0000807 ORPHA:2473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0001156 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0001162 ORPHA:2473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0005916 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0001249 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0001263 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0001508 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0001629 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0001631 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0001636 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0001643 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0001830 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0002023 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0002251 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0004322 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0004383 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0004397 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0006101 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0008368 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0008678 ORPHA:2473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0012227 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0030010 ORPHA:2473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2473 McKusick-Kaufman syndrome HP:0100779 ORPHA:2473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1149 Kuskokwim syndrome HP:0000889 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1149 Kuskokwim syndrome HP:0000995 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1149 Kuskokwim syndrome HP:0001288 ORPHA:1149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1149 Kuskokwim syndrome HP:0001315 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1149 Kuskokwim syndrome HP:0001387 ORPHA:1149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1149 Kuskokwim syndrome HP:0001883 ORPHA:1149 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1149 Kuskokwim syndrome HP:0002650 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1149 Kuskokwim syndrome HP:0003312 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1149 Kuskokwim syndrome HP:0006498 ORPHA:1149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1149 Kuskokwim syndrome HP:0006501 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0001347 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002061 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002314 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002355 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0007020 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0007340 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0000012 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0000020 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002064 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002070 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002166 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002169 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0003394 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0003487 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0007210 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0001761 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0010831 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0030014 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0040307 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0100561 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002607 ORPHA:100993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0007350 ORPHA:100993 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0001250 ORPHA:100993 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002921 ORPHA:100993 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0003457 ORPHA:100993 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0012898 ORPHA:100993 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0001258 ORPHA:100994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0002839 ORPHA:100994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0000020 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0001347 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0002061 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0002064 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0002166 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0003487 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0007256 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0007340 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0007350 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0000012 ORPHA:100994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0001761 ORPHA:100994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0002650 ORPHA:100994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0000365 ORPHA:100994 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0000510 ORPHA:100994 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0001256 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0001347 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0001761 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0002064 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0003487 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0006895 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0007002 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002061 ORPHA:100991 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002395 ORPHA:100991 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0003487 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0007141 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0009129 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002342 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0001300 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0000365 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0000510 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002936 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0003477 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0008944 ORPHA:100991 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0100543 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0031958 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0011448 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0003401 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0001761 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0006986 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002650 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002493 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0006886 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0007350 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0000012 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002619 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0005679 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0008969 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0007340 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0005340 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002079 ORPHA:100996 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000009 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000639 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000580 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001249 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001257 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001258 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001260 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001288 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001317 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001324 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002061 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002071 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002395 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002500 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0003477 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0003484 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0003487 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0006986 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0007024 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0007108 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0008969 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0012045 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0030506 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0030892 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0100543 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000118 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000496 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000708 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000726 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000819 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001152 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001250 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001328 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001761 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002145 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002378 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002495 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0003693 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002395 ORPHA:320411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0003487 ORPHA:320411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0001263 ORPHA:320411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002064 ORPHA:320411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002317 ORPHA:320411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0030051 ORPHA:320411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0001249 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0001258 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0001332 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002079 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002453 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002500 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0003477 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0100543 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100997 X-linked spastic paraplegia type 16 HP:0000009 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100997 X-linked spastic paraplegia type 16 HP:0000572 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100997 X-linked spastic paraplegia type 16 HP:0000639 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100997 X-linked spastic paraplegia type 16 HP:0001256 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100997 X-linked spastic paraplegia type 16 HP:0001270 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100997 X-linked spastic paraplegia type 16 HP:0001844 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100997 X-linked spastic paraplegia type 16 HP:0002427 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100997 X-linked spastic paraplegia type 16 HP:0002445 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100997 X-linked spastic paraplegia type 16 HP:0012719 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0001347 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0001436 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0002064 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0003487 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0009027 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0009130 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0001171 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0001763 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0002174 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0002936 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0003693 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0030237 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0030838 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0030839 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0031374 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0040131 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002169 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0003394 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0007210 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0010831 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0012898 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0030014 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0040307 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0100561 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0000012 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0001347 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002061 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002314 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0003487 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0007020 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0007340 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002070 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002166 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002064 ORPHA:100999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002355 ORPHA:100999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0007350 ORPHA:100999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0001761 ORPHA:100999 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0001250 ORPHA:100999 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002921 ORPHA:100999 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0003457 ORPHA:100999 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0000238 ORPHA:1136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0001263 ORPHA:1136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002475 ORPHA:1136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0000011 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0000639 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0000739 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0000961 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0001250 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0001251 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0001252 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0001257 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0001260 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0001612 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0001618 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002015 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002090 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002104 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002119 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002126 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002315 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002355 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002385 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002410 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002435 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002512 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002539 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0003396 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0003474 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0003484 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0004302 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0005348 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0006824 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0009130 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0010550 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0011441 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0011968 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0040010 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0000709 ORPHA:1136 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0000712 ORPHA:1136 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0001274 ORPHA:1136 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0001338 ORPHA:1136 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1136 Arnold-Chiari malformation type II HP:0002179 ORPHA:1136 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000023 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000044 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000175 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000218 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000316 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000453 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000568 ORPHA:1135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000632 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0004408 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0009804 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0009924 ORPHA:1135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0011800 ORPHA:1135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0000750 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0001249 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0001188 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0001258 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0001274 ORPHA:2466 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0001288 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0001347 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0002119 ORPHA:2466 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0002381 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0004209 ORPHA:2466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0004322 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0004374 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2466 MASA syndrome HP:0100490 ORPHA:2466 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0000090 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0000508 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0000510 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0000924 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0001392 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0040075 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0000002 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0000003 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0000365 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0000490 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0000938 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0000946 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0002652 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0002750 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0003170 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0006824 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0006897 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0010585 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140976 RHYNS syndrome HP:0011314 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0000316 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0000430 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0000568 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0000625 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0002006 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0002098 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0004122 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0004646 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0005273 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0008551 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0009935 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1134 Isolated arrhinia HP:0009927 ORPHA:1134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0000069 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0000160 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0000303 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0000319 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0000368 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0000582 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0000682 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0001156 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0001511 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0001744 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0002231 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0002240 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0002644 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0002650 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0004322 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0004326 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0004493 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0004828 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0005105 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0005978 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0006288 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0009912 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0010311 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0100578 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0100651 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1133 AREDYLD syndrome HP:0100840 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000160 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000218 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000268 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000272 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000280 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000316 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000400 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000445 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000767 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000883 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000938 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001166 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001252 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001833 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0003393 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0006086 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0008050 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0008078 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0009004 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0009929 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0010487 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0011822 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0011849 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0012157 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0012368 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000289 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000565 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000098 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001263 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001382 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001519 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0003100 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0003782 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0012771 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000664 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000777 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001007 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001640 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0002162 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0002750 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0008439 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0009002 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0100579 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000028 ORPHA:1131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000218 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000252 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000286 ORPHA:1131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000324 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000325 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000347 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000368 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000405 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000407 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000411 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000426 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000465 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000494 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000508 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000767 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0001633 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0001642 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0004322 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0004414 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0009794 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0010669 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0100555 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1131 X-linked mandibulofacial dysostosis HP:0100840 ORPHA:1131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000268 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000278 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000316 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000347 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000358 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000369 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000494 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000506 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000520 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001166 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001249 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001252 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001763 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002705 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000023 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000327 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000348 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000486 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000508 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000767 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000768 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001334 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001363 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001537 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001634 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001646 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001653 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002007 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002650 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0005692 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0100490 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000028 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000252 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000405 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000411 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000463 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000545 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000774 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000921 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000938 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000944 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000974 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001387 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001508 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002020 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002104 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002119 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002308 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002857 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0003042 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0003312 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0006487 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2462 Shprintzen-Goldberg syndrome HP:0010318 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000160 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000175 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000176 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000193 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000252 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000278 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000298 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000347 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000358 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000369 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000508 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000581 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001166 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001249 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001252 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001263 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001328 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001387 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001460 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001508 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001510 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0002804 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0002974 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0003202 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0003510 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0003560 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0011968 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0012745 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000767 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000768 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001511 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0002650 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0002808 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0007018 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0100490 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000003 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000036 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000039 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000047 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000072 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000077 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000079 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000104 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000110 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000126 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0000238 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001274 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001321 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001331 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001629 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001651 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001696 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001840 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0001883 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0002021 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0002334 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0003312 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0004307 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0008678 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0010935 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2461 Marden-Walker syndrome HP:0030680 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002061 ORPHA:100984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002395 ORPHA:100984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0003487 ORPHA:100984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0009053 ORPHA:100984 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0001288 ORPHA:100984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002064 ORPHA:100984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0008944 ORPHA:100984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0011448 ORPHA:100984 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0000012 ORPHA:100984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0001270 ORPHA:100984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002495 ORPHA:100984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0009830 ORPHA:100984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0030051 ORPHA:100984 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0001260 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0001510 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002063 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002067 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002359 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0006895 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0100963 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0001249 ORPHA:530983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0001263 ORPHA:530983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0001328 ORPHA:530983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0001999 ORPHA:530983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0031936 ORPHA:530983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000486 ORPHA:530983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000750 ORPHA:530983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0001252 ORPHA:530983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0001256 ORPHA:530983 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000252 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000276 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000286 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000331 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000347 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000455 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000648 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000729 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000733 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000752 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0001250 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0001251 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0001530 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0002493 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0002650 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0002949 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0011968 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0012433 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0012471 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0025160 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0040195 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0000646 ORPHA:530983 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0001385 ORPHA:530983 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0002942 ORPHA:530983 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:530983 Lamb-Shaffer syndrome HP:0100704 ORPHA:530983 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001072 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002829 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0003326 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0003493 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0011024 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0030880 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0031359 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0000077 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0000160 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001009 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001232 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001324 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001386 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002031 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002206 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0003236 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0005590 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0006121 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0006261 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0006530 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0007400 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0011838 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0012531 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0025131 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0025520 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0030859 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0030873 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0031293 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0031917 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0000083 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0000093 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0000099 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0000966 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0000989 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001279 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001369 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001371 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001581 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001596 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001701 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001708 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0001919 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002015 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002020 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002092 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002094 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002244 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002250 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002577 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002578 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002584 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002604 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002607 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002617 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0002754 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0009771 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0011799 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0012185 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0012592 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0012622 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0012819 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0031329 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0100580 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90291 Systemic sclerosis HP:0100758 ORPHA:90291 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0001347 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002061 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002314 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002355 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0003487 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0007020 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0000012 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0000020 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002064 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002070 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002166 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002406 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0003394 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0007340 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0001761 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0009049 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0100561 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002169 ORPHA:100989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0006986 ORPHA:100989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002921 ORPHA:100989 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0003457 ORPHA:100989 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0012898 ORPHA:100989 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000505 ORPHA:67036 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000648 ORPHA:67036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0007663 ORPHA:67036 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000518 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000603 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000639 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001251 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001272 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001284 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0002174 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0002317 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0002522 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0003394 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0003401 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0003474 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0010924 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0012531 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000552 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000618 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000642 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001172 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001315 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001377 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001761 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0002322 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0002403 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0003438 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0006248 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0007076 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0007787 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0007795 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0007976 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0009468 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0010522 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0010923 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0000012 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001257 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001348 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0002061 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0003487 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0004302 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0006938 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0007340 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0008969 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0011448 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001260 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001761 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0002839 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0003693 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0007350 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0100543 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001249 ORPHA:100985 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001250 ORPHA:100985 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001251 ORPHA:100985 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0001258 ORPHA:100986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002061 ORPHA:100986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002495 ORPHA:100986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0003487 ORPHA:100986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0007340 ORPHA:100986 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0000079 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0001317 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0001761 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002500 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0007210 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0011448 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002070 ORPHA:100986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002078 ORPHA:100986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0006827 ORPHA:100986 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0000407 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0000518 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0000639 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0001260 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0001271 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002015 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002650 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0003484 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0006986 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0009129 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0001258 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0001288 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0002061 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0002395 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0002495 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0003487 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0001761 ORPHA:100988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0002069 ORPHA:100988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0003202 ORPHA:100988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0008800 ORPHA:100988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0010505 ORPHA:100988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0000020 ORPHA:100988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0002174 ORPHA:100988 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0000262 ORPHA:93317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0000772 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0000774 ORPHA:93317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0000782 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0000926 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0001274 ORPHA:93317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0001290 ORPHA:93317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0001302 ORPHA:93317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0001321 ORPHA:93317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0001678 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0002093 ORPHA:93317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0002657 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0002750 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0003085 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0003498 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0004279 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0004991 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0005616 ORPHA:93317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0005871 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0006543 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0008786 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0010049 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0010579 ORPHA:93317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0011675 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0012819 ORPHA:93317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000218 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000293 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000347 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000460 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000468 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000842 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000855 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000963 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0001000 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0003635 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0005781 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0100578 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000270 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000678 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000685 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000831 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0001952 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000894 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0000956 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0001090 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0001596 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0001804 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0001870 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0002155 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0003124 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0003809 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0008070 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0008897 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0008993 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0009003 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0009839 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0011334 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0030781 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2457 Mandibuloacral dysplasia HP:0030809 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2456 Familial supernumerary nipples HP:0000119 ORPHA:2456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2456 Familial supernumerary nipples HP:0002558 ORPHA:2456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002812 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003025 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003300 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003468 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003908 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0004322 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000768 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0001376 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002650 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002857 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002970 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003026 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003521 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0006385 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0009763 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0009824 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0011849 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000218 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000307 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000324 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000358 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000384 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000385 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000411 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000505 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000520 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000545 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000926 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002938 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002945 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002948 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002982 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0004586 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0004625 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0008417 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0008422 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0008577 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0009896 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0012368 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0100559 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000164 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000470 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000486 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0001891 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002659 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002866 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0004349 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0005743 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0007906 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0008440 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0009882 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0030084 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0031427 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0032208 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1123 Caudal appendage-deafness syndrome HP:0000028 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1123 Caudal appendage-deafness syndrome HP:0001249 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1123 Caudal appendage-deafness syndrome HP:0001999 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1123 Caudal appendage-deafness syndrome HP:0002825 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1123 Caudal appendage-deafness syndrome HP:0004322 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1123 Caudal appendage-deafness syndrome HP:0008610 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1123 Caudal appendage-deafness syndrome HP:0011297 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000925 ORPHA:93316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000944 ORPHA:93316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0100255 ORPHA:93316 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000926 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0001385 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002650 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002812 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002815 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002857 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002867 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003375 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003510 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003521 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0010574 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0100866 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000185 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000347 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000402 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000545 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0001561 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002020 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002033 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002751 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003019 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003026 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003796 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0008833 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0011470 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0011471 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0100864 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1122 Ulnar hypoplasia-split foot syndrome HP:0001171 ORPHA:1122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1122 Ulnar hypoplasia-split foot syndrome HP:0001839 ORPHA:1122 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1122 Ulnar hypoplasia-split foot syndrome HP:0003022 ORPHA:1122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1122 Ulnar hypoplasia-split foot syndrome HP:0006501 ORPHA:1122 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0000772 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0000776 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001172 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001177 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001199 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001250 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001522 ORPHA:1120 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001631 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001643 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001646 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001647 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001680 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001772 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0002093 ORPHA:1120 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0002101 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0002119 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0002414 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0003422 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0005180 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0006695 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0006703 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0007598 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0009623 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0009778 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0009882 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0010772 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0011039 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0000992 ORPHA:90283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0025474 ORPHA:90283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0031191 ORPHA:90283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0003493 ORPHA:90283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0025528 ORPHA:90283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0030057 ORPHA:90283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0030351 ORPHA:90283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0032235 ORPHA:90283 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0020151 ORPHA:90283 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0007483 ORPHA:90283 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0040189 ORPHA:90283 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:90283 Lupus erythematosus tumidus HP:0100699 ORPHA:90283 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0000270 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0000347 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0000494 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0000586 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0001166 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0001249 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0001263 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0002007 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0003196 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0008947 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0010539 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0010565 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0011800 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0011968 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0002104 ORPHA:1129 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0000925 ORPHA:93314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0000926 ORPHA:93314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001510 ORPHA:93314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002663 ORPHA:93314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003521 ORPHA:93314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001156 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001248 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001288 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001498 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001831 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002515 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002650 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002812 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002867 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002869 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002970 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003016 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003088 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003170 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003177 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003336 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003510 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0005819 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0009882 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0010743 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0000768 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0000914 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002355 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002808 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002938 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002942 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002986 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003059 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003121 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003180 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003185 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003311 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003417 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003907 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0004558 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0008422 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0010228 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0030289 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0030320 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0100864 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0001385 ORPHA:93311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0008828 ORPHA:93311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0001288 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0001384 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0002857 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0002970 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003088 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003502 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003839 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0010631 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0030839 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0001387 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0002355 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003170 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003184 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003365 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0004268 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0005743 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0005877 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0008419 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0008800 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0030840 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003418 ORPHA:93311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0001072 ORPHA:90289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0002829 ORPHA:90289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0011355 ORPHA:90289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0030053 ORPHA:90289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0031359 ORPHA:90289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000164 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000177 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000324 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000504 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000554 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000689 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000953 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0001053 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0001369 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0001371 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0002020 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0002076 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0002232 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0002315 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0002960 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0003198 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0004426 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0006336 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0009019 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0010783 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0011331 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0011821 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0025474 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0100537 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0100560 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0100876 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0100899 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000077 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000366 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000490 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000520 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000707 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0000872 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0001045 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0001250 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0001297 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0001626 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0002086 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0002384 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0002633 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0003202 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0003330 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0008066 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0011138 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0011675 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0030878 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0030880 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0100633 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:90289 Localized scleroderma HP:0200041 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0000713 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0000718 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0000722 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0000729 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0000750 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0000752 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0001249 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0001328 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0001511 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0001609 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0002312 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0004322 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0009904 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0012471 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0100023 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0100710 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0000256 ORPHA:100973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0004209 ORPHA:100973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0012172 ORPHA:100973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0000286 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100973 FRAXE intellectual disability HP:0000426 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67041 Hyaluronidase deficiency HP:0003170 ORPHA:67041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67041 Hyaluronidase deficiency HP:0004322 ORPHA:67041 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0000962 ORPHA:90280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0000965 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0000988 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0002923 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0010702 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0011123 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0025131 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0025300 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0030350 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0030880 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0030899 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0200042 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0002099 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0002725 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0003493 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0003613 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0007417 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:90280 Chilblain lupus HP:0012325 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0000481 ORPHA:67043 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0000613 ORPHA:67043 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0007856 ORPHA:67043 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0011495 ORPHA:67043 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0200026 ORPHA:67043 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0000518 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0001089 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0004329 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0012122 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0012155 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0100532 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0100583 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0000593 ORPHA:67043 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0012040 ORPHA:67043 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67043 Amoebic keratitis HP:0012804 ORPHA:67043 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0030534 ORPHA:67042 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0000533 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0000572 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0000608 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0000662 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0001141 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0007791 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0011506 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0011510 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0031530 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0000552 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0000613 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0000642 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0001089 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0001099 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0004328 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0007401 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0012628 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0012805 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0500087 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0007906 ORPHA:67042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67042 Late-onset retinal degeneration HP:0100014 ORPHA:67042 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000248 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000260 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000286 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000316 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000343 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000463 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000470 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000518 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000637 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000774 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000926 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0001238 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0001263 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002673 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002693 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002714 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002942 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0003071 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0003180 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0003196 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0003300 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0003366 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0005280 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0006454 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0008783 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0011001 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0011326 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0011849 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000347 ORPHA:163649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002007 ORPHA:163649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0007894 ORPHA:163649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0011329 ORPHA:163649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0100558 ORPHA:163649 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000175 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000218 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000541 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000545 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000568 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002879 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0009811 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0010471 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0100767 ORPHA:439167 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0001511 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0001518 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0003508 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0006266 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0011403 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0012418 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0000717 ORPHA:439167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0000729 ORPHA:439167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0002725 ORPHA:439167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0003613 ORPHA:439167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0012759 ORPHA:439167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0000855 ORPHA:439167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0001627 ORPHA:439167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0002088 ORPHA:439167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0005268 ORPHA:439167 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:439167 Placental insufficiency HP:0100021 ORPHA:439167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000455 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000670 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000750 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000966 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000972 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0001249 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0001954 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0002205 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0005338 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0006297 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0012434 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0012471 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0005484 ORPHA:363523 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0012115 ORPHA:363523 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0040196 ORPHA:363523 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0003160 ORPHA:363523 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0000824 ORPHA:67045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0001249 ORPHA:67045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0004322 ORPHA:67045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0030353 ORPHA:67045 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0000570 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0000657 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0002079 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0002750 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0007979 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0010627 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0011342 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0011755 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0012447 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0040010 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0000028 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0001931 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0004447 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0010972 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0011273 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0012143 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0012145 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0040185 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0045040 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0000505 ORPHA:67047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0000639 ORPHA:67047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0001249 ORPHA:67047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0001251 ORPHA:67047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0001260 ORPHA:67047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0001266 ORPHA:67047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0001288 ORPHA:67047 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0002313 ORPHA:67047 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0003535 ORPHA:67047 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0005318 ORPHA:140989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0001269 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0001297 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0002017 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0002315 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0002326 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0002381 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0003470 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0007052 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0007236 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0012229 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0025456 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0100543 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0000622 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0000651 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0001250 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0001251 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0001260 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0001945 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0002170 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0002273 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0002385 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0007663 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0010534 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0030588 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0000538 ORPHA:140989 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0001300 ORPHA:140989 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0002321 ORPHA:140989 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0025142 ORPHA:140989 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:140989 Primary angiitis of the central nervous system HP:0100576 ORPHA:140989 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100974 FRAXF syndrome HP:0003564 ORPHA:100974 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100974 FRAXF syndrome HP:0012758 ORPHA:100974 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100974 FRAXF syndrome HP:0000118 ORPHA:100974 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0000252 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0000750 ORPHA:67046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001250 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001259 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001263 ORPHA:67046 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001285 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001332 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001508 ORPHA:67046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001943 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0002073 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0002134 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0002240 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0003535 ORPHA:67046 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000486 ORPHA:363528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001249 ORPHA:363528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001508 ORPHA:363528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000252 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000286 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000582 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000750 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001257 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001263 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0004322 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0005280 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0008947 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0011220 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012443 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000028 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000047 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000054 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000154 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000218 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000276 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000316 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000324 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000340 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000347 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000348 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000365 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000369 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000400 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000403 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000418 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000448 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000470 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000506 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000664 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000718 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000752 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000824 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000966 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001250 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001357 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001376 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001511 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001561 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001631 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001643 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001762 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001771 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001838 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0002020 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0002553 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0003196 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0007162 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012408 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012444 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012448 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012471 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0030353 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0031123 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0100710 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000164 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000776 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000821 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001274 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001288 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0002079 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0002172 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0005879 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0009473 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0009830 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0011968 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012450 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363528 Intellectual disability-strabismus syndrome HP:0100702 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0001072 ORPHA:100976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0008064 ORPHA:100976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0025092 ORPHA:100976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0040189 ORPHA:100976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0000656 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0001019 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0001036 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0007460 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0007479 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0010829 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0012472 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0000966 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0000972 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0008070 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0001596 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0002828 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0008404 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100976 Bathing suit ichthyosis HP:0025524 ORPHA:100976 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0000252 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0000365 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0000518 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001249 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001250 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001252 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001257 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001263 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001410 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001508 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001638 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001873 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001943 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0002195 ORPHA:67048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0003128 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0003535 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0007730 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000028 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000154 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000174 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000179 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000215 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000306 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000343 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000431 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000463 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000470 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000475 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000574 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000581 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000582 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000767 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0001156 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0001608 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0001832 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0002162 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0002164 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0002212 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0002750 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0002967 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0003026 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0004322 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0004634 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0005069 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0005280 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0005622 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0006394 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0007665 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0008496 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0008551 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0008839 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0009103 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0009937 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0010306 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0011829 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0100625 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0200063 ORPHA:247798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0005227 ORPHA:247798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0030255 ORPHA:247798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0040276 ORPHA:247798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0100896 ORPHA:247798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0007649 ORPHA:247798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0100245 ORPHA:247798 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1114 Aplasia cutis congenita HP:0001362 ORPHA:1114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1114 Aplasia cutis congenita HP:0004471 ORPHA:1114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1114 Aplasia cutis congenita HP:0007383 ORPHA:1114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1114 Aplasia cutis congenita HP:0010301 ORPHA:1114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1114 Aplasia cutis congenita HP:0200042 ORPHA:1114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1114 Aplasia cutis congenita HP:0001770 ORPHA:1114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1114 Aplasia cutis congenita HP:0003010 ORPHA:1114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1114 Aplasia cutis congenita HP:0004348 ORPHA:1114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1114 Aplasia cutis congenita HP:0006101 ORPHA:1114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1114 Aplasia cutis congenita HP:0010628 ORPHA:1114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002652 ORPHA:93307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002654 ORPHA:93307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002829 ORPHA:93307 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000347 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001156 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001371 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001376 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001387 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001762 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001776 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002515 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002812 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002857 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002987 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003071 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003088 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003365 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003498 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0005616 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008807 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008848 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0009824 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0030289 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0031174 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000175 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000218 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000363 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000369 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001385 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001440 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001769 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001831 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002650 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002947 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002986 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003016 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003031 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0004002 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0004037 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0005922 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0006429 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008434 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008826 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008829 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008905 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0009381 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0009471 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0009487 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0009778 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0010049 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0010743 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0025264 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0031006 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0031878 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0032649 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0040072 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000377 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0100864 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2444 Congenital pulmonary airway malformation HP:0001561 ORPHA:2444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2444 Congenital pulmonary airway malformation HP:0001622 ORPHA:2444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2444 Congenital pulmonary airway malformation HP:0002086 ORPHA:2444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2444 Congenital pulmonary airway malformation HP:0002093 ORPHA:2444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2444 Congenital pulmonary airway malformation HP:0002103 ORPHA:2444 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0000252 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0005916 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001770 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001798 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001800 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001802 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001804 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001830 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001839 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0004322 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0009773 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0009882 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0010185 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0100490 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93304 Autosomal dominant brachyolmia HP:0000926 ORPHA:93304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93304 Autosomal dominant brachyolmia HP:0000944 ORPHA:93304 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93304 Autosomal dominant brachyolmia HP:0002751 ORPHA:93304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93304 Autosomal dominant brachyolmia HP:0004322 ORPHA:93304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93304 Autosomal dominant brachyolmia HP:0004570 ORPHA:93304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93304 Autosomal dominant brachyolmia HP:0010306 ORPHA:93304 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001315 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002460 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003390 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007210 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007327 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0008944 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0009053 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0100290 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001249 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001288 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001328 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001337 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002355 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002493 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002495 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003130 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003474 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003484 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003487 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003693 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0004302 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007002 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007230 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0008948 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0009046 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0009129 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0009473 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0010830 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0012378 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0012785 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0040131 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000365 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000467 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001047 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001263 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001276 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001620 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001761 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002167 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002380 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002411 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002500 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002540 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003324 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003325 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003394 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003701 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003797 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0005879 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0006827 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0006970 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007269 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007641 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007703 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0008959 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0008994 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0008997 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0009027 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0012444 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0012447 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0012473 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0030237 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0031947 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0030051 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000020 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000252 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000518 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001250 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001272 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001290 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001999 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002747 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0006597 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0000055 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0005916 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001555 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001562 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001643 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001770 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001798 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001839 ORPHA:1112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0002089 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0002644 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0002937 ORPHA:1112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0003042 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0004320 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0006101 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0008678 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0009767 ORPHA:1112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0010173 ORPHA:1112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0012621 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0001945 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002961 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0004313 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0004315 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0012156 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0012191 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0025289 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0030812 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0031693 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0100727 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0100827 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0001399 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0001410 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0001433 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0001744 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0001876 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002037 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002155 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002205 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002716 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002720 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002850 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002910 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0003256 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0003261 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0003281 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0003496 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0005403 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0005404 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0005528 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0010976 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0011900 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0031408 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0040218 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0040219 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0100828 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0000123 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0001915 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002583 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002605 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002633 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002955 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0002960 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0004787 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0012819 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0030080 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2442 X-linked lymphoproliferative disease HP:0030250 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000160 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000252 ORPHA:1110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000303 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000324 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000325 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000337 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000368 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000400 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000426 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000444 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000494 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000670 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000708 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0001249 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0001252 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0001511 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0002623 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0002714 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0002970 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0003272 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0010669 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0012303 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0100026 ORPHA:1110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2440 Isolated split hand-split foot malformation HP:0000407 ORPHA:2440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2440 Isolated split hand-split foot malformation HP:0000526 ORPHA:2440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2440 Isolated split hand-split foot malformation HP:0001171 ORPHA:2440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2440 Isolated split hand-split foot malformation HP:0004050 ORPHA:2440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2440 Isolated split hand-split foot malformation HP:0006101 ORPHA:2440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2440 Isolated split hand-split foot malformation HP:0012165 ORPHA:2440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0001288 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0001385 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0003026 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0003365 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0030839 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0030973 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0001376 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0001387 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002515 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002663 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002758 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0003170 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0003498 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0006094 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0030840 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0045086 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002812 ORPHA:93308 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002857 ORPHA:93308 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002970 ORPHA:93308 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0005743 ORPHA:93308 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0001156 ORPHA:93308 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:93302 Brachyolmia, Maroteaux type HP:0000767 ORPHA:93302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93302 Brachyolmia, Maroteaux type HP:0000926 ORPHA:93302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93302 Brachyolmia, Maroteaux type HP:0002650 ORPHA:93302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93302 Brachyolmia, Maroteaux type HP:0003312 ORPHA:93302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93302 Brachyolmia, Maroteaux type HP:0004322 ORPHA:93302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93302 Brachyolmia, Maroteaux type HP:0006610 ORPHA:93302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93302 Brachyolmia, Maroteaux type HP:0010306 ORPHA:93302 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93302 Brachyolmia, Maroteaux type HP:0010653 ORPHA:93302 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1118 Fibular aplasia-ectrodactyly syndrome HP:0001171 ORPHA:1118 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1118 Fibular aplasia-ectrodactyly syndrome HP:0001622 ORPHA:1118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1118 Fibular aplasia-ectrodactyly syndrome HP:0040071 ORPHA:1118 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1118 Fibular aplasia-ectrodactyly syndrome HP:0006492 ORPHA:1118 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0000924 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0001057 ORPHA:1117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0001287 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0001362 ORPHA:1117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0001892 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0001928 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0006934 ORPHA:1117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0007703 ORPHA:1117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0011003 ORPHA:1117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0012639 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1117 Aplasia cutis-myopia syndrome HP:0200042 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0000545 ORPHA:1116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0000567 ORPHA:1116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0001004 ORPHA:1116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0001362 ORPHA:1116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0001888 ORPHA:1116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0001892 ORPHA:1116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0001928 ORPHA:1116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0002024 ORPHA:1116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0003075 ORPHA:1116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0004209 ORPHA:1116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0004313 ORPHA:1116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0007598 ORPHA:1116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0011362 ORPHA:1116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000085 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000126 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000193 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000218 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000238 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000256 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000262 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000268 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000272 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000278 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000280 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000303 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000308 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000316 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000319 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000347 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000356 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000358 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000368 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000369 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000410 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000431 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000486 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000494 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000506 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000678 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000766 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0006610 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0012210 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0004209 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001166 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001176 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001250 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001270 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001305 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001319 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0002315 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001274 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001363 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001382 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001511 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001519 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001548 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001623 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001653 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001845 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001999 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0002092 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0030680 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0002650 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0002667 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0002705 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0008519 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0003396 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0005180 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0006143 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0000676 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0001347 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0007642 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0008714 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0009471 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0009540 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0010653 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0012444 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0012758 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314585 15q overgrowth syndrome HP:0030680 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0000618 ORPHA:77299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0007633 ORPHA:77299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0000252 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0001257 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0002013 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0002376 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0002506 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0006956 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0007162 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0007366 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0007371 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0030215 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0031165 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0002123 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0002197 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0006855 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0007361 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0011174 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0031358 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0100703 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000028 ORPHA:77298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000047 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000238 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000365 ORPHA:77298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000528 ORPHA:77298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000568 ORPHA:77298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000572 ORPHA:77298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000612 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000647 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000878 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001249 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001263 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001274 ORPHA:77298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001360 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001510 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001629 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001643 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0002032 ORPHA:77298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0002575 ORPHA:77298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0002937 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0003468 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0008736 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0000093 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0000969 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0001061 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0001371 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0001508 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0001744 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0001824 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0001945 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0001974 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0002024 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0002113 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0002240 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0002315 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0002653 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0002659 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0002829 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0002907 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0003025 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0003326 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0004326 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0004810 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0004840 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0005561 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0002754 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0011001 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0011123 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0012647 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0012735 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0100769 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0100820 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0200034 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77297 Majeed syndrome HP:0200039 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0004438 ORPHA:77296 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000707 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000708 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000818 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0001513 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002315 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0032245 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000819 ORPHA:77296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0001007 ORPHA:77296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002076 ORPHA:77296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002120 ORPHA:77296 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000716 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000725 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000820 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000821 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000822 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000939 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0001061 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0001250 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0001348 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002149 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002310 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002321 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002345 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002354 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002758 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0003124 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0012444 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0031589 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0100543 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000823 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000938 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000939 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001410 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001744 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001873 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001971 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002155 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002240 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002750 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0003077 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0003119 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0003141 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0003233 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0004322 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0006520 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0006530 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0010729 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0012415 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000707 ORPHA:77293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002194 ORPHA:77293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0004887 ORPHA:77293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0009830 ORPHA:77293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0030353 ORPHA:77293 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000639 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000708 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000716 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001081 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001249 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001251 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001317 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001328 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001394 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001399 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001654 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001677 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001892 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001973 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002121 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002186 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002725 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002756 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002896 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0004836 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0007018 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0007302 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0002133 ORPHA:363558 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0025373 ORPHA:363558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0032867 ORPHA:363558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0032894 ORPHA:363558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0001945 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0002384 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0002457 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0002922 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0002960 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0004302 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0007183 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0007334 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0010845 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0011154 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0011468 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0012229 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0020217 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0030782 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0033716 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0033717 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0100543 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0410263 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0000708 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0001289 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0002283 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0002315 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0002383 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0010841 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0010850 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0011198 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0012378 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0012696 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0030915 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0031358 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0032794 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0012751 ORPHA:363558 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363558 New-onset refractory status epilepticus HP:0031475 ORPHA:363558 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0003251 ORPHA:529970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0012869 ORPHA:529970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0000798 ORPHA:529970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0012207 ORPHA:529970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0012867 ORPHA:529970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0002916 ORPHA:529970 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0008226 ORPHA:529970 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0000175 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0000316 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0000368 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0000453 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0000528 ORPHA:1104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0000581 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0000612 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0000625 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0002006 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0002414 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0002744 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0003422 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0004097 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0005105 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0009906 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1104 Anophthalmia plus syndrome HP:0100335 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0000252 ORPHA:2435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0000772 ORPHA:2435 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0000995 ORPHA:2435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0001053 ORPHA:2435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0001249 ORPHA:2435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0004322 ORPHA:2435 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0007400 ORPHA:2435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0012733 ORPHA:2435 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0000235 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0000337 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0000482 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0000568 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0001520 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0002093 ORPHA:2432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0002205 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0002240 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0002683 ORPHA:2432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0007957 ORPHA:2432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0009099 ORPHA:2432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000023 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000028 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000268 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000303 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000327 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000343 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000485 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000526 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000528 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000545 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000587 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000598 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000767 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001131 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001357 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001537 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001653 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001704 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001762 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0002650 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0002705 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0004327 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0005180 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0009004 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0009465 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0030680 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0100490 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0200007 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2430 Congenital macroglossia HP:0000158 ORPHA:2430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2430 Congenital macroglossia HP:0000821 ORPHA:2430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2430 Congenital macroglossia HP:0001067 ORPHA:2430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2430 Congenital macroglossia HP:0500030 ORPHA:2430 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0001300 ORPHA:411602 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000651 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002015 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002304 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002322 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002359 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002548 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0004409 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0005340 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0012450 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000338 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000713 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000716 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000741 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000744 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0001268 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0001332 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0001824 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002063 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002067 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002120 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002171 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002172 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002360 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002362 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002367 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0003394 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0004926 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0031435 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0100315 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0100660 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0100710 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000726 ORPHA:411602 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411602 Hereditary late-onset Parkinson disease HP:0100753 ORPHA:411602 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0000010 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0000047 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0000074 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0000076 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0000130 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0000486 ORPHA:2438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0000795 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0000813 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0000960 ORPHA:2438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0001162 ORPHA:2438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0001629 ORPHA:2438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0004209 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0005048 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0005268 ORPHA:2438 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0006110 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0007477 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0008080 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0008551 ORPHA:2438 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0009623 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0009778 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0009882 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0010034 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0010105 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0010109 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2438 Hand-foot-genital syndrome HP:0011937 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000028 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000085 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000175 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000204 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000218 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000233 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000238 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000327 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000343 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000347 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000368 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000534 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000568 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000581 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0000648 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001162 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0005916 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001172 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001180 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001215 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001508 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001522 ORPHA:1106 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001572 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001762 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001770 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001830 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001849 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0001852 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0002007 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0002139 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0002342 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0002814 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0002817 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0002827 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0002982 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0003026 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0003038 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0003042 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0003312 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0004209 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0004322 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0005048 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0005280 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0005293 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0005692 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0005736 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0006101 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0006487 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0007598 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0008368 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0009748 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0010650 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0010864 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0011220 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0011304 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0011478 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1106 Microphthalmia with limb anomalies HP:0100240 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0000079 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0000126 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0001839 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0002414 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0012300 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0025193 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0100257 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0000218 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0000238 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0000340 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0000347 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0000368 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0000474 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0000582 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0000954 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0001233 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0001651 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0002089 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0002475 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0002557 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0002575 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0002944 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0003298 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0006097 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0006610 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0008589 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0008593 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0008676 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0009112 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0010539 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0010704 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0001234 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0045026 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2437 Czeizel-Losonci syndrome HP:0100760 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000218 ORPHA:314588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001263 ORPHA:314588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001507 ORPHA:314588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001999 ORPHA:314588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000077 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000126 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000278 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000316 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000347 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000369 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000506 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000929 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001252 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001328 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001363 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001520 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0003517 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000034 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000085 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000113 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000238 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000378 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000407 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000486 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000766 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0000811 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001131 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001166 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001305 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001371 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001511 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001627 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001631 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0001643 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0002089 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0002650 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0002667 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0002808 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0003396 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0008551 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0010946 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0011039 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0012304 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0012385 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314588 Distal tetrasomy 15q HP:0100790 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001263 ORPHA:529965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001290 ORPHA:529965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000307 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000494 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000574 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001249 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0002007 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0007874 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0010648 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0011098 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0011800 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0012393 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000256 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000729 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000733 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001211 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001250 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0002721 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0008897 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000750 ORPHA:529962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0001256 ORPHA:529962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0001956 ORPHA:529962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000219 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000316 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000322 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000325 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000347 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000403 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000431 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000470 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000475 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000490 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000494 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000508 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000545 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000574 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000664 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000692 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000708 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000739 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0001250 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0001531 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0002650 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0002967 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0003019 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0003028 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0008551 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0008607 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0008935 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0009824 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0010794 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0011800 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0011968 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000362 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000718 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000712 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000738 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000869 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0001657 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0011304 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0011648 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0200053 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000076 ORPHA:529962 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0001642 ORPHA:529962 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0012683 ORPHA:529962 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:529962 17q24.2 microdeletion syndrome HP:0000824 ORPHA:529962 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0002069 ORPHA:363549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0007103 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0007185 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0011172 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0012705 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0031691 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0032308 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0032894 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0033349 ORPHA:363549 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0007738 ORPHA:363549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0031475 ORPHA:363549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0011665 ORPHA:363549 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0000853 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0001482 ORPHA:163634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0001510 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0002015 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0002650 ORPHA:163634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0002653 ORPHA:163634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0002757 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0002797 ORPHA:163634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0002893 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0002897 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0003002 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0004322 ORPHA:163634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0004936 ORPHA:163634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0005701 ORPHA:163634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0006765 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0006824 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0007461 ORPHA:163634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0009592 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0100021 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0100242 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0100615 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0100641 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0100733 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163634 Maffucci syndrome HP:0100777 ORPHA:163634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0011123 ORPHA:39812 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0000155 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002014 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002719 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002910 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0010280 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0040186 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0200041 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0200123 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0000737 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0000952 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0001369 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0001433 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0001649 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002013 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002018 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002027 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002090 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002113 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002904 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002996 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0003155 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0003202 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0004386 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0006467 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0012156 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0031123 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0031359 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0031452 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0040189 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0100533 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0100537 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0100614 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0200119 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0000211 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0000633 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0001508 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0002716 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0005198 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0005679 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:39812 Graft versus host disease HP:0009125 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000154 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000219 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000232 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000256 ORPHA:2429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000280 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000303 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000322 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000336 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000337 ORPHA:2429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000348 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000490 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000574 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000664 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001249 ORPHA:2429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001250 ORPHA:2429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001257 ORPHA:2429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001288 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001347 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001956 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0002162 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0002650 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0002808 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0003196 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0100874 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000218 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000219 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000248 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000369 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000400 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000494 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000767 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0001363 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0002007 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0002021 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0004322 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0005280 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0008689 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0008947 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001388 ORPHA:93360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002652 ORPHA:93360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002656 ORPHA:93360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0004322 ORPHA:93360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0011800 ORPHA:93360 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0000926 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001238 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001518 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001602 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001832 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002651 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002663 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002761 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002857 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002970 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0003025 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0003088 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0006014 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0006236 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0008755 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0008857 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0009815 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0010674 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0012095 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0012368 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0031367 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0040064 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0100168 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0000486 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001250 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002650 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002751 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002808 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002827 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002987 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0003048 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0003370 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0004875 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0005619 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0006536 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0030043 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0000762 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001265 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001609 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0003198 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0003458 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0003557 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0007340 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0008180 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0008619 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0009063 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0009830 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0010219 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0012548 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0030774 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001284 ORPHA:397744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001337 ORPHA:397744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0003701 ORPHA:397744 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001250 ORPHA:397744 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001369 ORPHA:397744 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001605 ORPHA:397744 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0002015 ORPHA:397744 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000119 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000126 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000276 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000280 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000431 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000637 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000750 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001249 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001252 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001270 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001627 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002465 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0011039 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000028 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000076 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000175 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000194 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000218 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000221 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000252 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000365 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000430 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000508 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000586 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001315 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001363 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001385 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001508 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001511 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001629 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001883 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002019 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002020 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002079 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002579 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002650 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002714 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0003186 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0003422 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0005487 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0010880 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0012332 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000158 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000193 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000476 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000589 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000666 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000677 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000821 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000938 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001250 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001284 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001324 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001357 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001631 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001647 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001954 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002046 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002202 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002282 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0003396 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0003763 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0004467 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0004970 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0006695 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0007328 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0007550 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0009794 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0011470 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0025487 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0011024 ORPHA:453499 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000023 ORPHA:2412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000079 ORPHA:2412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000160 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000174 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000272 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000286 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000316 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000364 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000431 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000457 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000463 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0001374 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0001643 ORPHA:2412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0001671 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0001702 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0002815 ORPHA:2412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0004097 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0005692 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0010759 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0011328 ORPHA:2412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000944 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001388 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001508 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001999 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0003468 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0004322 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0005930 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000520 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000592 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000926 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001385 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0002650 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0002751 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0002827 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0004568 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0006439 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0009811 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000175 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000218 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000347 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000365 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000768 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000946 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000974 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001249 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001377 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001627 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001762 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0002659 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0002987 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0003015 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0003083 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0006543 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0009465 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0011341 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000013 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000104 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000137 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000142 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000175 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000322 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000411 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000470 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000574 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000664 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000786 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000914 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0001007 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0001061 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0001156 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0001513 ORPHA:247768 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0002292 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0002967 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0004322 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0009890 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0009937 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0030088 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000518 ORPHA:2410 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000815 ORPHA:2410 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000144 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000786 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000823 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000837 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000939 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0002750 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0008187 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0008240 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0002757 ORPHA:2410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0004322 ORPHA:2410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0004349 ORPHA:2410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0000768 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0000772 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0000926 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0000939 ORPHA:93351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0000944 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001169 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001191 ORPHA:93351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001288 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001367 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001376 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001763 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001769 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002651 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002758 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002812 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002829 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002857 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002983 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0004279 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0005048 ORPHA:93351 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0005930 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0008839 ORPHA:93351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0008873 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0009824 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0010049 ORPHA:93351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0010743 ORPHA:93351 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0000926 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002650 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002829 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003015 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003016 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003026 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003088 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003468 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003498 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003510 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0005257 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0005930 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0006462 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0008463 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0000470 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0001388 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0001433 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0001602 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0001609 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002663 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002777 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002781 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002953 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002970 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002979 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003025 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003099 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003270 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003307 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0008418 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0008450 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0009826 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0025426 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000010 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000122 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000306 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000316 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000348 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000411 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000431 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000455 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000463 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000490 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000609 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000924 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000938 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000953 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000998 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001249 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001251 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001263 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001319 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001369 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001537 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001761 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001999 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002020 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002058 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002080 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002100 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002119 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002123 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002162 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002403 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002643 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002718 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002841 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002850 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0003307 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0003460 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0003765 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0004313 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0004429 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0005280 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0005387 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0005407 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0006610 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0007678 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0009098 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0009650 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0009844 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0009891 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0010282 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0010579 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0010750 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0010976 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0025540 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0031014 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0031381 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0031382 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0032132 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0032140 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0040022 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0040024 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0040025 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0040218 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0040288 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0100540 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0410018 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002007 ORPHA:221139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002014 ORPHA:221139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0004425 ORPHA:221139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000925 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000926 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001999 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0005280 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0008873 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0011800 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001156 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001511 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001518 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0002857 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0003025 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0004586 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0008905 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0009826 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0031367 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0100864 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000047 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000276 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000286 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000303 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000445 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000463 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000518 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000639 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000691 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000696 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000821 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0000826 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001169 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001263 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001377 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001388 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001607 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001621 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001763 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001769 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001773 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0001875 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0002007 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0002308 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0002650 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0002663 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0002751 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0002761 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0002812 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0002827 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0002938 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0003015 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0003016 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0003026 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0003027 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0003182 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0003196 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0003370 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0003895 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0004279 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0004313 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0004482 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0004603 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0004646 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0004944 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0005446 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0005743 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0006336 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0006532 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0006889 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0007707 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0010234 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0010585 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0010740 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0010941 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0011220 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0025492 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0030043 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0030833 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0030834 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0030839 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0040221 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93357 SPONASTRIME dysplasia HP:0100559 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0000124 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0000531 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0000613 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0001508 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0001510 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0001941 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0001944 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0001959 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0001969 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0001994 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0002013 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0002019 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0002148 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0002748 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0002900 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0003076 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0003109 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0003111 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0003126 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0003355 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0004918 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0100511 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0000481 ORPHA:411629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0000580 ORPHA:411629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0002926 ORPHA:411629 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0002500 ORPHA:411629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411629 Infantile nephropathic cystinosis HP:0100543 ORPHA:411629 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000750 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001250 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0002269 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0007359 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0012757 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0031936 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001263 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001268 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001270 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0002465 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0007064 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0007334 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0010845 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0010864 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0011182 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0011198 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0012001 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000316 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000494 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000639 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000708 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000717 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000718 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000742 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000744 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000752 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000817 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000826 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001251 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001252 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001265 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001284 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001344 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001513 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001761 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0002061 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0002240 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0002342 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0004879 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0006855 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0006970 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0010863 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0011193 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0011968 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0012166 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0012171 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0025160 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0100021 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0100258 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0000961 ORPHA:2414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001510 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001541 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001635 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001642 ORPHA:2414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001744 ORPHA:2414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001789 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0002020 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0002092 ORPHA:2414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0002098 ORPHA:2414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0002202 ORPHA:2414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0002240 ORPHA:2414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0005180 ORPHA:2414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0006510 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0011852 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0012735 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0002970 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0002980 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0002982 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0003015 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0003025 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0003071 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0003498 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0004566 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0005086 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0006385 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0010585 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0025369 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001256 ORPHA:476126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001263 ORPHA:476126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002465 ORPHA:476126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000164 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000324 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000347 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000348 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000664 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000678 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000708 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000729 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001182 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002650 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002719 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0004691 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0008872 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0011451 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000020 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000218 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000286 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000343 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000486 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000646 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000706 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000718 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000722 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000733 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000742 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000767 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001155 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001250 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001328 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001337 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001344 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001508 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001674 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001763 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002033 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002066 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002360 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002808 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0003072 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0003196 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0004209 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0004279 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0005484 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0006889 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0007018 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0007970 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0009659 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0010035 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0011471 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0011908 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0012450 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0200006 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0000975 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0001063 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0001265 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0001387 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0002571 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0003202 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0003457 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0000268 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0000278 ORPHA:163690 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0000286 ORPHA:163690 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0000508 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0000787 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0001252 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0001508 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0001510 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0001558 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0001611 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0002007 ORPHA:163690 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0002591 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0003131 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163690 Hypotonia-cystinuria syndrome HP:0012378 ORPHA:163690 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000175 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000252 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000369 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000444 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000494 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000520 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000680 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000776 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0001087 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0001363 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0001510 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0001511 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0002012 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0007370 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0011344 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0030680 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000023 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000047 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000078 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000237 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000238 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000243 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000278 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000327 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000347 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000348 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000453 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000485 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000572 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000592 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000938 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000939 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000954 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0001269 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0001680 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0002021 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0002705 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0002714 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0003194 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0003196 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0004439 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0004554 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0005211 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0005442 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0006695 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0007957 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0000577 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0008689 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0011087 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0025247 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0100538 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2409 Lowry-MacLean syndrome HP:0001250 ORPHA:2409 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2408 Lowe-Kohn-Cohen syndrome HP:0000112 ORPHA:2408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2408 Lowe-Kohn-Cohen syndrome HP:0000384 ORPHA:2408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2408 Lowe-Kohn-Cohen syndrome HP:0000407 ORPHA:2408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2408 Lowe-Kohn-Cohen syndrome HP:0002023 ORPHA:2408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2408 Lowe-Kohn-Cohen syndrome HP:0012732 ORPHA:2408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0000365 ORPHA:2406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0000478 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0000504 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0000651 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0000708 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0001257 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0001276 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0001608 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0002093 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0002205 ORPHA:2406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0002273 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0002425 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0002445 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0003781 ORPHA:2406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0011968 ORPHA:2406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2406 Locked-in syndrome HP:0100021 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0003015 ORPHA:93346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0045060 ORPHA:93346 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000162 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000280 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000316 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000347 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000365 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000545 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0003026 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0003173 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0003468 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0008462 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0010585 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0012368 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0100569 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000670 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000926 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0001216 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0002176 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0002795 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0005193 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0008755 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0008800 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0009800 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0000135 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0000368 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0000527 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0000787 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0001250 ORPHA:163693 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0001252 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0001263 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0001508 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0001510 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0001558 ORPHA:163693 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0001611 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0001943 ORPHA:163693 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0002007 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0002342 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0002901 ORPHA:163693 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0003128 ORPHA:163693 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0003131 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0005280 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163693 2p21 microdeletion syndrome HP:0200125 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0010803 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0010804 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0012553 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0012555 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000154 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000252 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000280 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000286 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000316 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000343 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000400 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000431 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000445 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000527 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000574 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000684 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0001250 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0001290 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0001344 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0001488 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0001847 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0002019 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0002058 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0002353 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0004322 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0005280 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0010624 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0010864 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0011304 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0011344 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0012443 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0012471 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000194 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000212 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000218 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000232 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000272 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000293 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000294 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0000463 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0001802 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0001804 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0006016 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0009648 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0009660 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0009882 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0009890 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420561 Temple-Baraitser syndrome HP:0009928 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000256 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000280 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001371 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001376 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001510 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002159 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0004322 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0008301 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0012379 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0030680 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0100490 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000023 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000158 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000212 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000293 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000336 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000407 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000431 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000445 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000505 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001537 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001609 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001654 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002788 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0006482 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0010535 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0030148 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0030812 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0040261 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0410018 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000362 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000405 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000488 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000493 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000553 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000648 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000654 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000662 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000736 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000822 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000900 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001085 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001273 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001369 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001385 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001433 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001633 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001638 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001641 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001679 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001702 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001744 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002028 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002091 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002176 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002360 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002500 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002781 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0003416 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0003468 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0004950 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0005019 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0005216 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0007703 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0007957 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0007994 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0011355 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0011675 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0012185 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0012471 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0012478 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0030823 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000707 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000708 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001250 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001263 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001268 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002376 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0100543 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0001744 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0001873 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0001892 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0001903 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0011869 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0011902 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0000722 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0001260 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0001300 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0002313 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0002339 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0002355 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0002453 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0002454 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0003477 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0010663 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0010994 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0012048 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397725 COASY protein-associated neurodegeneration HP:0100543 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000252 ORPHA:280763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001252 ORPHA:280763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0007020 ORPHA:280763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0010864 ORPHA:280763 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000280 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000297 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000414 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001257 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001263 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001272 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001332 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001347 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002120 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002307 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002355 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002464 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002465 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002515 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0003487 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0004322 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000154 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000218 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000322 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000341 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000733 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001250 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001763 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002079 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002518 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0010803 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0025502 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0100962 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000486 ORPHA:280763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000646 ORPHA:280763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002761 ORPHA:280763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002816 ORPHA:280763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0008807 ORPHA:280763 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000750 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001256 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001290 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001533 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001611 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001711 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001763 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001999 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000286 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000316 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000322 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000325 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000494 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000687 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000717 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000718 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000823 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001250 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001251 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001321 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001357 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001388 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001508 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001629 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001631 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001643 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001655 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001667 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001712 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001822 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002007 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002020 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002079 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002080 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002465 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002558 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002684 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002870 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0004209 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0004684 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0005180 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0007024 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0007083 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0007099 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0007449 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0008689 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0010316 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0010627 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0011098 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0012471 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0030872 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0032009 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0040288 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0004482 ORPHA:466791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000194 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000272 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000276 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000426 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000446 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000448 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000486 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000545 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000582 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000678 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000739 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002033 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002194 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002421 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002705 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002751 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0006989 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0009703 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0011968 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0100962 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000028 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000154 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000219 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0040322 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0010472 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0012379 ORPHA:100924 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000707 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0001289 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000713 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000739 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000711 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000738 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0031258 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0007159 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000741 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000716 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0100852 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0009830 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0007178 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000763 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0004302 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0001324 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002027 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002018 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002572 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002019 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0003270 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002014 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0011121 ORPHA:100924 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0001271 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002902 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002086 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0005547 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0012217 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0012187 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0033010 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0030272 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0003690 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0001260 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002093 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0005946 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0001256 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000717 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000365 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002355 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0006466 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0000926 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0002815 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0002867 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0003028 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0003468 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0003521 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0004322 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0005193 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0010665 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0001256 ORPHA:163665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0002342 ORPHA:163665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411641 Ocular cystinosis HP:0000505 ORPHA:411641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411641 Ocular cystinosis HP:0000531 ORPHA:411641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411641 Ocular cystinosis HP:0000613 ORPHA:411641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411641 Ocular cystinosis HP:0032639 ORPHA:411641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0000641 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001152 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001256 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001263 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001265 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001395 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001433 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001945 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0002066 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0002073 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0002080 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0002359 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0003401 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0003474 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0006554 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0006855 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0009053 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0009055 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0009830 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0025268 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0000648 ORPHA:466794 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001257 ORPHA:466794 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001347 ORPHA:466794 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001762 ORPHA:466794 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0007663 ORPHA:466794 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0100515 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0100577 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0000142 ORPHA:37202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0000009 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0000012 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0000014 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0000017 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0000058 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0000078 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0000140 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0000795 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0012531 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:37202 Interstitial cystitis HP:0030016 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000256 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000470 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000882 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000946 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0001156 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0001374 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0002987 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0003041 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0003097 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0003943 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0004987 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000369 ORPHA:93333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0002693 ORPHA:93333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0004322 ORPHA:93333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000316 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000365 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000377 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000402 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000486 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000490 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0000581 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0002007 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0002162 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93333 Pelviscapular dysplasia HP:0005989 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0000982 ORPHA:498359 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0007407 ORPHA:498359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0007410 ORPHA:498359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0025080 ORPHA:498359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0031248 ORPHA:498359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0031289 ORPHA:498359 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0000969 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0001047 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0002725 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0005425 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0006261 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0200035 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0000028 ORPHA:93328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0000048 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0000062 ORPHA:93328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0000272 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0000316 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0000343 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0000347 ORPHA:93328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0002007 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0002999 ORPHA:93328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0003042 ORPHA:93328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0003196 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0004279 ORPHA:93328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0005280 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0005792 ORPHA:93328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0008736 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0008905 ORPHA:93328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93328 Autosomal dominant omodysplasia HP:0010034 ORPHA:93328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0000343 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0000358 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0000369 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0000463 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0000944 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0002007 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0002818 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0003042 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0004322 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0005025 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0005280 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0008905 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0000028 ORPHA:93329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0000347 ORPHA:93329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0002823 ORPHA:93329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0002983 ORPHA:93329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0003027 ORPHA:93329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0001059 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0001249 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0001363 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0003196 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0010880 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0030680 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93329 Autosomal recessive omodysplasia HP:0100790 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000028 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000218 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000316 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000347 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000368 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000426 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000520 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000581 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0001249 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0002236 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0002553 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0002996 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0004322 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0009891 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0009911 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0010657 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0040064 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000023 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000085 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000202 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000238 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000256 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000268 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000286 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000322 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000324 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000337 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000387 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000602 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000691 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000767 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000884 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0000954 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0001156 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0001238 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0001263 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0001611 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0001655 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0001746 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0001763 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0001845 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0001864 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0002007 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0002033 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0002209 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0003186 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0003473 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0004442 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0004684 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0005048 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0006610 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0008598 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0008947 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0009739 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0009778 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0010044 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0010767 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0011470 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0025193 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0030043 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0040025 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0100259 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221120 Pseudoaminopterin syndrome HP:0100759 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0000481 ORPHA:411634 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0000083 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0000093 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0000114 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0000531 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0000613 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0001994 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0002013 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0003076 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0003126 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0003355 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0200026 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0000117 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0000821 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0001510 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0001959 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0002148 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0002900 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0002901 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0002902 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0002907 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0003259 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0003537 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0003774 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0004396 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0010639 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0012598 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0012622 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0032639 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0100512 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0001250 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0001508 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0001942 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0001944 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0002750 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0003472 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0011106 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0011314 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:411634 Juvenile nephropathic cystinosis HP:0011968 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0006495 ORPHA:93320 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0001180 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0002758 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0002986 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0002996 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0003059 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0004059 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0005773 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0006055 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0000882 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0001377 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0002650 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0002987 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0003041 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0003083 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0003316 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0003887 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0003967 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0005879 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0006376 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0006467 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0006633 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0009164 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0009238 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0009281 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0009471 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0009701 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0009702 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0009760 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0009813 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0009959 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0010011 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0010048 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0010176 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0010301 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0010331 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0030835 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0100558 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93320 Ulnar hemimelia HP:0100745 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93321 Radial hemimelia HP:0006501 ORPHA:93321 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:93321 Radial hemimelia HP:0001172 ORPHA:93321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93321 Radial hemimelia HP:0004243 ORPHA:93321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93321 Radial hemimelia HP:0004252 ORPHA:93321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93321 Radial hemimelia HP:0009484 ORPHA:93321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93321 Radial hemimelia HP:0010035 ORPHA:93321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0002199 ORPHA:93324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0002901 ORPHA:93324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0008198 ORPHA:93324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000252 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000270 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000293 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000316 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000670 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000883 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0001510 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0001511 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0001773 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0002750 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0003472 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0004331 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0005450 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0005791 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0006470 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0006645 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0008897 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0100254 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0200055 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0000270 ORPHA:93325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0004322 ORPHA:93325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0005791 ORPHA:93325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0100254 ORPHA:93325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0000316 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0000540 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0000670 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0001085 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0001510 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0001511 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0001903 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0002135 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0002199 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0002750 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0002905 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0003472 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0004331 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0005450 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0005490 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0006470 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0007633 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0007862 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0008198 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0008734 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0008897 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0011220 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0030346 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0000519 ORPHA:93325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0001620 ORPHA:93325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0006335 ORPHA:93325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0001762 ORPHA:93322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0009556 ORPHA:93322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0001171 ORPHA:93322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0004987 ORPHA:93322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0006380 ORPHA:93322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0001159 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0001385 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0001839 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0001840 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0001849 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0003974 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0004059 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0005736 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0005892 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0006426 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0006460 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0008368 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0010037 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0010043 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0010442 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0010554 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0012165 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0012386 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0030032 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0000028 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0000047 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0000062 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0000175 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0000365 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0002475 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0002673 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0002827 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93322 Tibial hemimelia HP:0002937 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0001260 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0001272 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002066 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002080 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002136 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002194 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002355 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002359 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002373 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0006855 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0007010 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0009062 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0012759 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0000639 ORPHA:512260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0001410 ORPHA:512260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0001273 ORPHA:512260 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002120 ORPHA:512260 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0030772 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0031058 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0045086 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0000110 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0000478 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0000528 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0000593 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001249 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001363 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001627 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001849 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001873 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0002414 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0002990 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0003274 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0040071 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0100257 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0100656 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0002355 ORPHA:93323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0002991 ORPHA:93323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001762 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0002857 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0002982 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0005736 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0006437 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0009826 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0040069 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0100559 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001376 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001387 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001388 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001770 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001772 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0001831 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0002979 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0003038 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0003097 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0003184 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0003365 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0005085 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0006101 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0006460 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0010219 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0011849 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0012165 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0012531 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93323 Fibular hemimelia HP:0030043 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508410 Familial intestinal malrotation HP:0000316 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508410 Familial intestinal malrotation HP:0000348 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508410 Familial intestinal malrotation HP:0000463 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508410 Familial intestinal malrotation HP:0000637 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508410 Familial intestinal malrotation HP:0002007 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508410 Familial intestinal malrotation HP:0002566 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508410 Familial intestinal malrotation HP:0002580 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508410 Familial intestinal malrotation HP:0005280 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0000989 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0001019 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0001025 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0005587 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0006543 ORPHA:280785 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0008066 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0200151 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000044 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000144 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000147 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000545 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000869 ORPHA:1643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000960 ORPHA:1643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0002916 ORPHA:1643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0004322 ORPHA:1643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0004397 ORPHA:1643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0007759 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0008056 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1643 Xp22.3 microdeletion syndrome HP:0008065 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000061 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000063 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000347 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000786 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0003083 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0003871 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0007628 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0010650 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0040253 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000130 ORPHA:2975 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000137 ORPHA:2975 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000142 ORPHA:2975 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000047 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000059 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000164 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000175 ORPHA:1642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000243 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000286 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000316 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000368 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000431 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000470 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000520 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0000582 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0001156 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0001249 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0001252 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0001263 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0030680 ORPHA:1642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0002705 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0003196 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0006610 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0008551 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0009738 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0009906 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0011039 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0011800 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0100625 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1642 Distal monosomy 9p HP:0100790 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0003310 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0004979 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0006505 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0007517 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0007574 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0008788 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0010864 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0012767 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0430005 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0430028 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:3000077 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0010819 ORPHA:2976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0012412 ORPHA:2976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0030348 ORPHA:2976 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0001511 ORPHA:2976 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0000015 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0000400 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0000448 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0000819 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0001007 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0001176 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0001386 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0001833 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0002069 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0002684 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0002750 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0002751 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0002857 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0003180 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2978 Chronic intestinal pseudoobstruction HP:0001643 ORPHA:2978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2978 Chronic intestinal pseudoobstruction HP:0002021 ORPHA:2978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2978 Chronic intestinal pseudoobstruction HP:0002242 ORPHA:2978 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2978 Chronic intestinal pseudoobstruction HP:0002566 ORPHA:2978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2978 Chronic intestinal pseudoobstruction HP:0011875 ORPHA:2978 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2978 Chronic intestinal pseudoobstruction HP:0012639 ORPHA:2978 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000252 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001249 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001250 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001263 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001252 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0100704 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000011 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000407 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000648 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001257 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001344 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001510 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002019 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002079 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002119 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002188 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002373 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0012332 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002465 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002518 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002828 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0007204 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0007301 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001272 ORPHA:466934 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000280 ORPHA:466934 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001433 ORPHA:466934 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000510 ORPHA:436274 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000662 ORPHA:436274 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000973 ORPHA:436274 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000486 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000587 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0001582 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0007522 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0007843 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0007980 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0200034 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0001098 ORPHA:436274 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0000044 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0000047 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0000135 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0000238 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0000568 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0000589 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0000823 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0001249 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0001513 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0004322 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0005321 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141333 Biemond syndrome type 2 HP:0100258 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0006980 ORPHA:436271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0007133 ORPHA:436271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000093 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000124 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000508 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000580 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000648 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000750 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001249 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001250 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001251 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001262 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001263 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001270 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001288 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001290 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001410 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001508 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001639 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001903 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001994 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002240 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002376 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002490 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002747 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002875 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0003076 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0003109 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0003128 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0003324 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0003355 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0006555 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0007256 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0008619 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0030195 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0040291 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001285 ORPHA:436271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002013 ORPHA:436271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000003 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000010 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000014 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000028 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000069 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000072 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000076 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000083 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000130 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000144 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000767 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0000772 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0001374 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0001508 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0001562 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0001629 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0001631 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0001636 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0001643 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0001762 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0002019 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0002023 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0002205 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0002566 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0002580 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0002650 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0003422 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0005199 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0006703 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0008734 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0010957 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0011100 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0100543 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2970 Prune belly syndrome HP:0100779 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280779 Cutaneous collagenous vasculopathy HP:0007489 ORPHA:280779 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:280779 Cutaneous collagenous vasculopathy HP:0000967 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280779 Cutaneous collagenous vasculopathy HP:0000978 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280779 Cutaneous collagenous vasculopathy HP:0000988 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280779 Cutaneous collagenous vasculopathy HP:0007394 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280779 Cutaneous collagenous vasculopathy HP:0010783 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280779 Cutaneous collagenous vasculopathy HP:0011276 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280779 Cutaneous collagenous vasculopathy HP:0012733 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280779 Cutaneous collagenous vasculopathy HP:0001939 ORPHA:280779 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280779 Cutaneous collagenous vasculopathy HP:0000989 ORPHA:280779 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001256 ORPHA:314647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001263 ORPHA:314647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000179 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000276 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000307 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000343 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000414 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000445 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000463 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000486 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000490 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000718 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000729 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000750 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001251 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001260 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001310 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001319 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001321 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002019 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002317 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002354 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002470 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002536 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0012433 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0011166 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000160 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000256 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001348 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002003 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002080 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002120 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0007256 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0011067 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0025517 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0100540 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0400005 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000639 ORPHA:314647 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002403 ORPHA:314647 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000286 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000316 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000369 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000407 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000486 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000512 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000545 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000639 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000648 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000649 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000668 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001161 ORPHA:2971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001250 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001252 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001263 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001276 ORPHA:2971 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001288 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001347 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001508 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001522 ORPHA:2971 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001939 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0002093 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0002167 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0002240 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0002353 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0002376 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0005280 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0010864 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0012639 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000028 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000154 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000202 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000238 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000316 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000365 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000384 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000508 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000612 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000625 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000639 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000772 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000776 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000921 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001053 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001161 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001231 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001249 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001250 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001260 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001305 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001321 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001362 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001374 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001596 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001883 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0002006 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0002119 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0002126 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0002334 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0004374 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0006101 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0007370 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0007957 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0008065 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0008572 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0009882 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0010185 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0010609 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1647 Oculocerebrocutaneous syndrome HP:0100777 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0000272 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0000368 ORPHA:2972 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0000668 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0000684 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0002857 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0005439 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0006329 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0006482 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1646 Partial chromosome Y deletion HP:0000028 ORPHA:1646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1646 Partial chromosome Y deletion HP:0000798 ORPHA:1646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1646 Partial chromosome Y deletion HP:0003251 ORPHA:1646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1646 Partial chromosome Y deletion HP:0008669 ORPHA:1646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1646 Partial chromosome Y deletion HP:0008734 ORPHA:1646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1646 Partial chromosome Y deletion HP:0011961 ORPHA:1646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000003 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000072 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000126 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000795 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000812 ORPHA:2973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0001562 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0002023 ORPHA:2973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0002093 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0002566 ORPHA:2973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0002575 ORPHA:2973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0006501 ORPHA:2973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0008678 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0010458 ORPHA:2973 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0100627 ORPHA:2973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0100779 ORPHA:2973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0000775 ORPHA:505395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0005946 ORPHA:505395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0009113 ORPHA:505395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0025464 ORPHA:505395 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0003457 ORPHA:505395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0012496 ORPHA:505395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0032169 ORPHA:505395 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0000821 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0002747 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0011458 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0012416 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0032341 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0100806 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0006597 ORPHA:505395 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis HP:0008066 ORPHA:280794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis HP:0200151 ORPHA:280794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000388 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000750 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000943 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001249 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001328 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002719 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002721 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0010471 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0011842 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0012379 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000280 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000316 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000410 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000486 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000518 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000540 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000545 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000736 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001251 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001252 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001256 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001270 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001433 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002090 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0003198 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0011334 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0025406 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0031123 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000158 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000248 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000256 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000297 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000303 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000337 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000407 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000470 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000483 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000520 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000543 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000687 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000708 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000716 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000738 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000739 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000746 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000767 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000768 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000900 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000926 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000938 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000977 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001258 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001272 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001289 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001363 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001387 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001388 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001519 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001537 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001653 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001776 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001876 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002120 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002308 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002312 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002329 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002553 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002679 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002684 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002797 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002857 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0004437 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0004684 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0005280 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0005791 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0007957 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0008821 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0009062 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0010665 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0010885 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0011220 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0012157 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0012368 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0430022 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000010 ORPHA:309282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001334 ORPHA:309282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001659 ORPHA:309282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002371 ORPHA:309282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0011771 ORPHA:36913 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0002901 ORPHA:36913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0002905 ORPHA:36913 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0000518 ORPHA:36913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0003401 ORPHA:36913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0030057 ORPHA:36913 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0000509 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0000716 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0000737 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0000739 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0001265 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0001289 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0001657 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0002094 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0002728 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0002960 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0003394 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0003472 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0003739 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0004724 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0011001 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0011458 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0012049 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0100749 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0001677 ORPHA:36913 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0002199 ORPHA:36913 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0004308 ORPHA:36913 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:36913 Autoimmune hypoparathyroidism HP:0005162 ORPHA:36913 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0001256 ORPHA:309288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0010471 ORPHA:309288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0001251 ORPHA:309288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0002719 ORPHA:309288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0025406 ORPHA:309288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000158 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000410 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000518 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000545 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000708 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000716 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000738 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000739 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000746 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000750 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000938 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0001272 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0001289 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0001433 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0002090 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0002120 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0002312 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0002329 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0002721 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0012157 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0031123 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0000543 ORPHA:309288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0001659 ORPHA:309288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0001876 ORPHA:309288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309288 Alpha-mannosidosis, adult form HP:0007957 ORPHA:309288 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2964 Autosomal dominant prognathism HP:0000232 ORPHA:2964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2964 Autosomal dominant prognathism HP:0000303 ORPHA:2964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2964 Autosomal dominant prognathism HP:0010807 ORPHA:2964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000026 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000044 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000141 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000134 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000135 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000140 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000508 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000529 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000618 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000651 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000771 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000802 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000823 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000830 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000845 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000858 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000868 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000938 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000939 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000980 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0001117 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0001250 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0002315 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0006824 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0002013 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0002017 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0002321 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0002615 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0002920 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0000044 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0003388 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0006897 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0007011 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0007942 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0008240 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0008245 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0011362 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0011734 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0011735 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0011748 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0012041 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0012246 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0012377 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0012378 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0012503 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0030018 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0030016 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0030517 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0030521 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0100639 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2965 Prolactinoma HP:0100829 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0002718 ORPHA:2968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0011990 ORPHA:2968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0040238 ORPHA:2968 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000010 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000230 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000388 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0001581 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0001974 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0002090 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0002586 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0002841 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0005528 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0006527 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0007499 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0009098 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0011107 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0011947 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000099 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000164 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000166 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000246 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000280 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000509 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000717 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000825 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0001249 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0001250 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0001287 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0001510 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0001892 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0001894 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0001901 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0002059 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0002110 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0002754 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0003540 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0004322 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0005575 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0008404 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0009789 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0011110 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0025452 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0030683 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0020087 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0100806 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0500035 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0000252 ORPHA:2968 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0001511 ORPHA:2968 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0004440 ORPHA:2968 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2968 Leukocyte adhesion deficiency HP:0004808 ORPHA:2968 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000147 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000238 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000256 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000268 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000303 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000463 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000494 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000518 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000541 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000545 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000615 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0000828 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0001028 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0001031 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0001100 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0001140 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0001249 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0001334 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0001744 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0002652 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0002816 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0005293 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0007400 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0009721 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0010516 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0010807 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0010816 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0100559 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0100730 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0100774 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2969 Proteus-like syndrome HP:0100777 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0003549 ORPHA:217059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0001500 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0001795 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0001805 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0001821 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0001837 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0002164 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0011300 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0011304 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0100759 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0100760 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0008391 ORPHA:217059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0012203 ORPHA:217059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0000951 ORPHA:217059 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0000975 ORPHA:217059 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0002653 ORPHA:217059 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:217059 Isolated congenital digital clubbing HP:0002829 ORPHA:217059 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000750 ORPHA:466926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001250 ORPHA:466926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001263 ORPHA:466926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0004349 ORPHA:466926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000028 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000077 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000256 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000316 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000343 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000356 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000414 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000717 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000951 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001252 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001256 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001845 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002018 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002019 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002020 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002136 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002342 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002650 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0030680 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000252 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000348 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001561 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001631 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0004425 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0010864 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0011220 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0100777 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000028 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000154 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000175 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000252 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000293 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000347 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000400 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000414 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000470 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000486 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000582 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000648 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0000767 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0001250 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0001252 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0001276 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0001360 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0002683 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0004209 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0004322 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0006610 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0006889 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0007598 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0008736 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0009773 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0010978 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0012368 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0100335 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0100729 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1636 Distal monosomy 7q36 HP:0100790 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001611 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001762 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001788 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001884 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0002305 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0002645 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0002750 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0002751 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0002761 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0002812 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0003199 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0004322 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0005272 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0005328 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0005425 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0007457 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0007957 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0008070 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0008897 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0008947 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0009125 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0009748 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0010648 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0011003 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0011220 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0025167 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0200141 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000518 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000592 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001273 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001320 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001629 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0002073 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0007392 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0030604 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000028 ORPHA:2962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001643 ORPHA:2962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0005301 ORPHA:2962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0008619 ORPHA:2962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0012304 ORPHA:2962 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0002097 ORPHA:2962 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000023 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000160 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000218 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000248 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000253 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000286 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000316 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000369 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000490 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000494 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000684 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000750 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000767 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000938 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000963 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0000973 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001181 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001263 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001347 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001374 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001476 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001508 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001511 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001537 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2962 De Barsy syndrome HP:0001558 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0000232 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0000260 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0000286 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0000303 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0000337 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0000368 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0000486 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0000574 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0000973 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0003758 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0001508 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0001511 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0001537 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0001582 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0001595 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0001597 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0002230 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0002299 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0004322 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0004331 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0007477 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0007495 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0007740 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0008070 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0009721 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0009804 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0009882 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2963 Progeroid syndrome, Petty type HP:0100578 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002063 ORPHA:314632 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001332 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001336 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001337 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002067 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002172 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002506 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002548 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0003487 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0025331 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0100543 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001260 ORPHA:314632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001288 ORPHA:314632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001324 ORPHA:314632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002339 ORPHA:314632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0012378 ORPHA:314632 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0000716 ORPHA:314632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002174 ORPHA:314632 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000648 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000712 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000726 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000736 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000738 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000746 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000762 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001260 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001265 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001290 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001324 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001332 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002312 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002354 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002355 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002359 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002376 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002415 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002922 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0004343 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0012433 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0030081 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000020 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000649 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000716 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001082 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001257 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002072 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002080 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002371 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002478 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002483 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002607 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0003270 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0003444 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0003487 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001939 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0007133 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0007240 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0007272 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0007663 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0008619 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0100753 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001250 ORPHA:309271 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0004926 ORPHA:309271 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0025013 ORPHA:309271 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0031358 ORPHA:309271 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0100575 ORPHA:309271 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35612 Nanophthalmos HP:0000486 ORPHA:35612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35612 Nanophthalmos HP:0000501 ORPHA:35612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35612 Nanophthalmos HP:0000568 ORPHA:35612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35612 Nanophthalmos HP:0000610 ORPHA:35612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35612 Nanophthalmos HP:0007703 ORPHA:35612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35612 Nanophthalmos HP:0008499 ORPHA:35612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000028 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000079 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000235 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000256 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000286 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000316 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000343 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000431 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000463 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000470 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0000774 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0001155 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0001252 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0001274 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0001387 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0006610 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1621 3q13 microdeletion syndrome HP:0008736 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000028 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000160 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000218 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000219 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000239 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000316 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000343 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000368 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000400 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000411 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000494 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000592 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000766 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000974 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000978 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001075 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001238 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001324 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001519 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001892 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001933 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002194 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002650 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002761 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002804 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0003196 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0003199 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0003319 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0005272 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0006184 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0008572 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0012534 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0031869 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000308 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000483 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000486 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000541 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000545 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001182 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001581 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001582 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002019 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002751 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002947 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0003198 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0007906 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000009 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000126 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000175 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000365 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000501 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000787 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001363 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001627 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001654 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002107 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002119 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0003414 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0100016 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0410030 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000023 ORPHA:2953 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000085 ORPHA:2953 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0004794 ORPHA:2953 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000023 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000028 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000175 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000218 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000233 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000248 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000252 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000286 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000316 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000325 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000343 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000347 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000365 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000368 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000463 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000470 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000506 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000508 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000581 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0000960 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0001162 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0001250 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0001252 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0001257 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0001511 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0001537 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0002119 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0002714 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0004209 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0004322 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0004467 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0006695 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0007670 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1620 Distal monosomy 3p HP:0100543 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002781 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0003416 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0003468 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0004950 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0005019 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0005216 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0007703 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0007957 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0007994 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0011355 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0011675 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0012185 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0012471 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0012478 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0030823 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000256 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000280 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000707 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001324 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001371 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001376 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001510 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002159 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0004322 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0008301 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0012379 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0030680 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0100490 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000023 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000158 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000212 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000293 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000336 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000431 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000445 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000505 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000708 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001263 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001268 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001537 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001609 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001654 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002360 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002788 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0006482 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0010535 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0030148 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0030812 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0040261 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0100543 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0410018 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000362 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000405 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000407 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000488 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000493 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000553 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000648 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000654 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000662 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000822 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000900 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001085 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001250 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001369 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001385 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001433 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001633 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001638 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001641 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001679 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001702 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001744 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002028 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002091 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002176 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002376 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2956 Acrodysplasia scoliosis HP:0001156 ORPHA:2956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2956 Acrodysplasia scoliosis HP:0002650 ORPHA:2956 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2956 Acrodysplasia scoliosis HP:0003298 ORPHA:2956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2956 Acrodysplasia scoliosis HP:0003422 ORPHA:2956 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000219 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000252 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000341 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000426 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000455 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001263 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001319 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001999 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0002465 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0010864 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000286 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000308 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000368 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000486 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000508 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001250 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001357 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001363 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001510 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001629 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001631 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001643 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0002020 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0002643 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0002714 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0003552 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0004322 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0011968 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0100704 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000028 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000126 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000175 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000648 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001156 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001332 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001601 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0002566 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0004467 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0007678 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000023 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000028 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000278 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000286 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000316 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000348 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000369 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000448 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000486 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000508 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000639 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000939 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0001098 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0001249 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0001290 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0001776 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0002059 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0002673 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0005815 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0010499 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0010781 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0011064 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0040019 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001596 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001620 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002020 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002136 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002162 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002360 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002721 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002828 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002910 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0003401 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0003808 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0004322 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0005115 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0005320 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0005328 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0004429 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0005403 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0007481 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0007495 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0008209 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0008214 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0040171 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0009882 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0010536 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0010663 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0025124 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0100543 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0100785 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001256 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000047 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000054 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000193 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000252 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000320 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000347 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000408 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000518 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000529 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000585 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000668 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000689 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000815 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000823 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000831 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000938 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001156 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001397 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001518 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001592 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001270 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001935 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002572 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002664 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002894 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002943 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0040160 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:243343 Dimethylglycine dehydrogenase deficiency HP:0001939 ORPHA:243343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:243343 Dimethylglycine dehydrogenase deficiency HP:0003236 ORPHA:243343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:243343 Dimethylglycine dehydrogenase deficiency HP:0003750 ORPHA:243343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:243343 Dimethylglycine dehydrogenase deficiency HP:0012379 ORPHA:243343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:243343 Dimethylglycine dehydrogenase deficiency HP:0410020 ORPHA:243343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0000157 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0000175 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0000154 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0000244 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0000252 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0000278 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0000316 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0000365 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0000470 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0000742 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0001263 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0001274 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0004322 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0001561 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0002061 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0002084 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0002418 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0002580 ORPHA:314621 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0002679 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0002943 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0003310 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0003319 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0004325 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0007036 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0010864 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0007642 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0009792 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0100872 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0011069 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0011729 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0012286 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0012503 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:0011800 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314621 Duplication of the pituitary gland HP:3000005 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002359 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002376 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002415 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002922 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0004343 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0012433 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0030081 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000649 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000712 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000738 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000746 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001082 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001250 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001257 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002080 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002371 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0003270 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0003444 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0003487 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001939 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0007133 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0007240 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0007272 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0007663 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0008619 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0025013 ORPHA:309263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0031358 ORPHA:309263 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000020 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000648 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000736 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000762 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001260 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001265 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001290 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001324 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001332 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002312 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0001324 ORPHA:2942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0012531 ORPHA:2942 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0002829 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0003326 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0003551 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0011446 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0012378 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0100786 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0001260 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0001367 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0002015 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0002093 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0002360 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0002380 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0003202 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0003394 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2942 Postpoliomyelitis syndrome HP:0002791 ORPHA:2942 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:48918 Focal myositis HP:0001324 ORPHA:48918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48918 Focal myositis HP:0001376 ORPHA:48918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48918 Focal myositis HP:0001824 ORPHA:48918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48918 Focal myositis HP:0001945 ORPHA:48918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48918 Focal myositis HP:0003236 ORPHA:48918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48918 Focal myositis HP:0003326 ORPHA:48918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48918 Focal myositis HP:0100614 ORPHA:48918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000175 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000190 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000274 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000316 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000322 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000368 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000470 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000494 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000525 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000568 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000589 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000518 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000708 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0000729 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0001263 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0001188 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0001249 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0001250 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0001319 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0001510 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0001508 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0001518 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0001770 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0002871 ORPHA:1617 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0010078 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0011344 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0100490 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1617 2q24 microdeletion syndrome HP:0100807 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0000238 ORPHA:163596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0000980 ORPHA:163596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0001561 ORPHA:163596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0001562 ORPHA:163596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0001635 ORPHA:163596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0001701 ORPHA:163596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0001744 ORPHA:163596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0001789 ORPHA:163596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0001903 ORPHA:163596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0002240 ORPHA:163596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:163596 Hb Bart's hydrops fetalis HP:0011902 ORPHA:163596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2940 Porencephaly HP:0001249 ORPHA:2940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2940 Porencephaly HP:0001250 ORPHA:2940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2940 Porencephaly HP:0001257 ORPHA:2940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2940 Porencephaly HP:0002119 ORPHA:2940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2940 Porencephaly HP:0002132 ORPHA:2940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2940 Porencephaly HP:0004374 ORPHA:2940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2940 Porencephaly HP:0100021 ORPHA:2940 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2940 Porencephaly HP:0100022 ORPHA:2940 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0003755 ORPHA:596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0030917 ORPHA:596 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0000478 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0001319 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0001558 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0001561 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0001622 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0002033 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0002090 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0002098 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0002205 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0003687 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0004887 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0006829 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0008872 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0030192 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0030195 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0030319 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0031238 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0000218 ORPHA:596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0000268 ORPHA:596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0000276 ORPHA:596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0001999 ORPHA:596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:596 X-linked centronuclear myopathy HP:0002540 ORPHA:596 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0003198 ORPHA:598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0003741 ORPHA:598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0003789 ORPHA:598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0000486 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0001290 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0001387 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0001508 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0002093 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0002650 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0002747 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0003306 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0003457 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0004303 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0004322 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0005692 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0008994 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0008997 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0000544 ORPHA:598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0002047 ORPHA:598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0002460 ORPHA:598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:598 Multiminicore myopathy HP:0002804 ORPHA:598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0001252 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0001270 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0001374 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0001388 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0001634 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0001762 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0001763 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0002047 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0002751 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0002828 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0003198 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0003388 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0003552 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0003749 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0003803 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0030230 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0000602 ORPHA:597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0002483 ORPHA:597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0003798 ORPHA:597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0040081 ORPHA:597 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0001989 ORPHA:597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0002643 ORPHA:597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0002747 ORPHA:597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0003236 ORPHA:597 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:597 Central core disease HP:0040191 ORPHA:597 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:592 Macrophagic myofasciitis HP:0001945 ORPHA:592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:592 Macrophagic myofasciitis HP:0002829 ORPHA:592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:592 Macrophagic myofasciitis HP:0003324 ORPHA:592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:592 Macrophagic myofasciitis HP:0003326 ORPHA:592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:592 Macrophagic myofasciitis HP:0003457 ORPHA:592 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:592 Macrophagic myofasciitis HP:0012378 ORPHA:592 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0000221 ORPHA:2928 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0000762 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001156 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001249 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001288 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001315 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001324 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001956 ORPHA:2928 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0002644 ORPHA:2928 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0002983 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0003457 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0004322 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0009465 ORPHA:2928 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0011675 ORPHA:2928 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0100490 ORPHA:2928 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0008209 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0005266 ORPHA:2929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0012198 ORPHA:2929 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0100896 ORPHA:2929 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0004784 ORPHA:2929 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0004795 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002573 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0001903 ORPHA:2929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002027 ORPHA:2929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002576 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002014 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0100822 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0001510 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0000969 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002239 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0012432 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002243 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0000256 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0001012 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0010797 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0001999 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002003 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0000316 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0000494 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0005280 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0000369 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0000160 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0000331 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0001256 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0004406 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0100579 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0100761 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002326 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0030049 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0004941 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002092 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0003003 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0012126 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002894 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0100833 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0004390 ORPHA:2929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0030256 ORPHA:2929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0001508 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0012050 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0003075 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0000421 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0100026 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0100759 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0006548 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0006574 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0002408 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0040231 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2929 Juvenile polyposis syndrome HP:0007378 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000467 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000508 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002015 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002033 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002882 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0003473 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0003701 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0004661 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0004889 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0011968 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000602 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000961 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001249 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001251 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001283 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001558 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001611 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002205 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002355 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002804 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002872 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0003324 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0003388 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0004885 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0008443 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0010536 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0011469 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0030842 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0100285 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0100295 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000218 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000276 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001250 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001270 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001284 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001612 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001618 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001761 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002421 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002515 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002751 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0003306 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0003325 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0003458 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0003693 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0009053 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0010307 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001252 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0012801 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0030051 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000308 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000369 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000407 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000565 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000639 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000651 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0000768 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001265 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001374 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001388 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0001561 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002020 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002392 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0002870 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0005943 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0007178 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0025401 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:590 Congenital myasthenic syndrome HP:0030208 ORPHA:590 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002748 ORPHA:289157 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002901 ORPHA:289157 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0012052 ORPHA:289157 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000867 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000886 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000897 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000920 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001270 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001281 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001324 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001508 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002148 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002653 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002659 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002663 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002749 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002752 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002753 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002909 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002970 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002980 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002982 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0003020 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0003029 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0003106 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0003165 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0005042 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0005469 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0008897 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0010537 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0010639 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001290 ORPHA:289157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002007 ORPHA:289157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002355 ORPHA:289157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0004322 ORPHA:289157 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000684 ORPHA:289157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000737 ORPHA:289157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001538 ORPHA:289157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002199 ORPHA:289157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0006297 ORPHA:289157 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0000762 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0001284 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0002317 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0003401 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0003474 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0003481 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0009830 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0010871 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0011096 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0012078 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0030200 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0040129 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0002355 ORPHA:2932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0002527 ORPHA:2932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0003551 ORPHA:2932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0030237 ORPHA:2932 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0010833 ORPHA:2932 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464318 Verrucous hemangioma HP:0001028 ORPHA:464318 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:464318 Verrucous hemangioma HP:0011123 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464318 Verrucous hemangioma HP:0011356 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464318 Verrucous hemangioma HP:0012740 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464318 Verrucous hemangioma HP:0025092 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464318 Verrucous hemangioma HP:0045059 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464318 Verrucous hemangioma HP:0200035 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0000288 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0000356 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0000364 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0000486 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0000582 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0001162 ORPHA:2935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0005280 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0006101 ORPHA:2935 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0007477 ORPHA:2935 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0008736 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2935 Crossed polysyndactyly HP:0009601 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000028 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000047 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000055 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000077 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000107 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000126 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000135 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000160 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000248 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000252 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000270 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000286 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000307 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000343 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000368 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000405 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000407 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000431 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000457 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000464 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000486 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000490 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000504 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000505 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000518 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000534 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000639 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000648 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000708 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000717 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000733 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000750 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000821 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000878 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000892 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0000902 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001009 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001107 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001156 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001249 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001250 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001252 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001263 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001274 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001288 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001344 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001385 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001387 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001392 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001397 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001508 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001513 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001636 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001643 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001644 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001654 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001671 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001734 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001743 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001773 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0001829 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002007 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002015 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002019 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002020 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002021 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002119 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002120 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002167 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002230 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002242 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002353 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002465 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0030680 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002591 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002650 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002715 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0002808 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0003006 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0003198 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0003416 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0004209 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0004322 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0004374 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0004378 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0005113 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0005280 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0006824 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0008066 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0008499 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0008551 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0008736 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0008872 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0011228 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0011800 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0012733 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0100490 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0100559 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1606 1p36 deletion syndrome HP:0100716 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0001324 ORPHA:589 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0000508 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0000597 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0000651 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0000777 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0001260 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0001283 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0002015 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0002094 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0030006 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0030208 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0030210 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0100614 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0000365 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0000836 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0000872 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0001370 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0002725 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0003076 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0003401 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0008207 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0010780 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0030880 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0000709 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0001063 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0001250 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0001878 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0012115 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:589 Myasthenia gravis HP:0012410 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0000238 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0000486 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0000501 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0000505 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0000518 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0000545 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0000648 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0001250 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0001252 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0001276 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0001288 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0001360 ORPHA:588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0001608 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0002167 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0002353 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0002435 ORPHA:588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0003198 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0003236 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0003457 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0004374 ORPHA:588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0007360 ORPHA:588 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0100022 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:588 Muscle-eye-brain disease HP:0100543 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000252 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000708 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000750 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001249 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001263 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001999 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0011968 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000504 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000729 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000733 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000739 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001250 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001270 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001288 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001344 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001508 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001511 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001518 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002119 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002120 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0003561 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0009121 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0410263 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000341 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000411 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000426 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000483 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000486 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000490 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000540 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000543 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000545 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000577 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000646 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000767 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001182 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001773 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001831 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002013 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002020 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002079 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002363 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002650 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002719 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002808 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0003319 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0006466 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0007018 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0007957 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0011171 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0011757 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0012785 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000028 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000047 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000054 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000107 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000122 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000125 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000126 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000541 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001561 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001562 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001629 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001643 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001650 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001659 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002247 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002269 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0000221 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0000224 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0000256 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0000518 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0001000 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0001004 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0001182 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0001231 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0001250 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0001596 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0001744 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0001800 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0001810 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0001903 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0002014 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0002024 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0002027 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0002039 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0002231 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0002232 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0002240 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0002597 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0002664 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0002672 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0003003 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0004326 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0004390 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0007440 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0008391 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0012126 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0012378 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0100840 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2930 Cronkhite-Canada syndrome HP:0200008 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0005148 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0005280 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0007204 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0008240 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0008513 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0008689 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0012447 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000154 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000194 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000218 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000238 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000252 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000286 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000294 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000322 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000407 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000414 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000448 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000452 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000486 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000494 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000767 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000821 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001250 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001266 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001321 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001382 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001508 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001533 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001635 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001650 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001653 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001684 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0004942 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0002720 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0004422 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0005134 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0005164 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0011596 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0012382 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0012471 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0003413 ORPHA:1600 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0009592 ORPHA:1600 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000054 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000303 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000400 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000479 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0000545 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001018 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001166 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001182 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001249 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001256 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001263 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001319 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001510 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001643 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001762 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001763 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0001999 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0002370 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0002714 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0002750 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0002751 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1600 Monosomy 18q HP:0004322 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000238 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000252 ORPHA:585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000256 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000280 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000319 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000407 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000463 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000505 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000518 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000574 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0000648 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0001249 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0001250 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0001263 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0001319 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0001387 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0001744 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0002208 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0002240 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0002376 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0003134 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0004322 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0005280 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0007307 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0007703 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0007957 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0008064 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0008155 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0010059 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:585 Multiple sulfatase deficiency HP:0011304 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0000023 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0000280 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0000470 ORPHA:584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0001004 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0001249 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0001252 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0001387 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0001537 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0001541 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0001744 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0001789 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0001840 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0002103 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0002205 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0002650 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0003272 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0004607 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0005019 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0007957 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0008155 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0008430 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0010655 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0012115 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0012368 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0100026 ORPHA:584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:584 Mucopolysaccharidosis type 7 HP:0100625 ORPHA:584 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome HP:0000982 ORPHA:281201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome HP:0008064 ORPHA:281201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0002896 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0003002 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0003003 ORPHA:587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0004377 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0006753 ORPHA:587 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0006758 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0008069 ORPHA:587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0009720 ORPHA:587 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0009726 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0012114 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0012118 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:587 Muir-Torre syndrome HP:0100684 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0001738 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002024 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002110 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002205 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0006536 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0012236 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0012873 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0001508 ORPHA:586 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0000246 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0000716 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0000739 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0000938 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0001392 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002020 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002035 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002099 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002570 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002724 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002726 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002910 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0004401 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0005376 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0032342 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0045082 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0000365 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0000787 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0000939 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0001394 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002105 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002107 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0002842 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0032261 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:586 Cystic fibrosis HP:0100582 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000023 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000365 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000389 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000518 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000545 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000772 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000889 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001250 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001251 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001276 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001385 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001387 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001537 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001604 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001744 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002024 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002208 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002230 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002240 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002360 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002376 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002650 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002857 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0003312 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0004493 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0006887 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0007957 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0008155 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0010864 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001646 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001999 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001633 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001637 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0007256 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0025160 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0011842 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000164 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0004452 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000718 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0011951 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001678 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0005743 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000618 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001640 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0007009 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000405 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002019 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0012185 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000750 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000726 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000734 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000268 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001260 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000943 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002015 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0030195 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001371 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001288 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002159 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001007 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000238 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0006801 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000752 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000710 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0030214 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002659 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001249 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000256 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000158 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000410 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001270 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002870 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0007759 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000648 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000388 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000580 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002505 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002344 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001538 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0005425 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0004349 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0012664 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0011947 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000546 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000510 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000407 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001328 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000664 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0100874 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0009928 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0012471 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000391 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0031458 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000708 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0410263 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000280 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001133 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0030838 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002254 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0100512 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0000662 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0001257 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0011110 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002781 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0003541 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:581 Mucopolysaccharidosis type 3 HP:0002119 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001249 ORPHA:496790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001263 ORPHA:496790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0008936 ORPHA:496790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001257 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002064 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002151 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002465 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0003477 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0007210 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000028 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000276 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000303 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000347 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000348 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000490 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000518 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000545 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000565 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000582 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000609 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000639 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000648 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000768 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000823 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001272 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001385 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001639 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002066 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002360 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002650 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0003196 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0003535 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0005656 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0011968 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001250 ORPHA:496790 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0007957 ORPHA:496790 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000256 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000280 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001376 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001626 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001627 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0004322 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000023 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000158 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000212 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000293 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000405 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000407 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000488 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000546 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000708 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000736 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000762 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000943 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001268 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001510 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001537 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001609 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001654 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001744 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0002028 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0002240 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0002344 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0002360 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0002376 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0002788 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0004582 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0005781 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0006979 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0007994 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0010535 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0012471 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0030044 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0030812 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0100543 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0410018 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000336 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000362 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000431 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000445 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000493 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000648 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000662 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000752 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001085 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001263 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001334 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001385 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001633 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001638 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001641 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001679 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001702 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0002176 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0002781 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0003552 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0007703 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0007957 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0008843 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0010656 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0012185 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0012478 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0030466 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0031416 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000718 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000733 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0000822 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001129 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0001250 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0004950 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0010865 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0011675 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0025160 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:580 Mucopolysaccharidosis type 2 HP:0100710 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0000158 ORPHA:583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0000179 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0000246 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0000280 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0000365 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0000389 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0000470 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0000505 ORPHA:583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0000885 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0000944 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0001387 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0001508 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0001654 ORPHA:583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0001744 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0030680 ORPHA:583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0002656 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0002788 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0002808 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0002857 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0003300 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0003521 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0007759 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0008155 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0009928 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0100543 ORPHA:583 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:583 Mucopolysaccharidosis type 6 HP:0100790 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000154 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000164 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000256 ORPHA:582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000280 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000365 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000463 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000470 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000670 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000683 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000768 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000772 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000926 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000944 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0001288 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0001373 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0001654 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0002650 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0002673 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0002750 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0002808 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0002857 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0003416 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0004322 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0004349 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0005692 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0005930 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0006487 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0007957 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0000682 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0003307 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0008155 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0010306 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0100543 ORPHA:582 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:582 Mucopolysaccharidosis type 4 HP:0100790 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2917 Polydactyly-myopia syndrome HP:0000545 ORPHA:2917 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2917 Polydactyly-myopia syndrome HP:0001162 ORPHA:2917 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2917 Polydactyly-myopia syndrome HP:0000023 ORPHA:2917 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2917 Polydactyly-myopia syndrome HP:0000028 ORPHA:2917 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2917 Polydactyly-myopia syndrome HP:0100541 ORPHA:2917 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0000010 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0000246 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0000389 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0001367 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0001369 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0001376 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0001482 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0001701 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0001744 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0001824 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0001873 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0001875 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0001903 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002102 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002205 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002206 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002240 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002665 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002716 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002719 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002721 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002797 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002829 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0002960 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0004332 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0005528 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0006532 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0007400 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0007440 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0009830 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0012384 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0100534 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0100658 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0100769 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0100776 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:47612 Felty syndrome HP:0100806 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0002251 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0002650 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0002705 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0004736 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0005817 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0006297 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0010441 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0010800 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0011069 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0012738 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0100335 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000161 ORPHA:2919 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0001162 ORPHA:2919 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0001830 ORPHA:2919 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000191 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000288 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000316 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0001249 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0002007 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0010297 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000185 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000190 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000193 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000252 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000668 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0001274 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2919 Orofaciodigital syndrome type 5 HP:0001636 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000175 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000233 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000303 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000322 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000363 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000402 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000405 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000431 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000445 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000677 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000932 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0001263 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0001320 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0001792 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0001833 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0001852 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0002714 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0004470 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0009882 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0010743 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0011039 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0011220 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0011800 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0012745 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0045025 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0410030 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0000369 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0001249 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0001627 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0001631 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0004451 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0008551 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0012704 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217017 Zechi-Ceide syndrome HP:0100874 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0001162 ORPHA:2920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0002187 ORPHA:2920 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0000303 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0001344 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0001830 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0001831 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0002069 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0002465 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0010554 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0000218 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0000252 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0000322 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0000385 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0000387 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0000574 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0000689 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0001212 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0001511 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0001812 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0002558 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0002650 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0002987 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0004209 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0006380 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2920 Oliver syndrome HP:0100490 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0000480 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0000567 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0001249 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0001263 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0000612 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0100258 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0000486 ORPHA:2921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0001141 ORPHA:2921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0012109 ORPHA:2921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0030515 ORPHA:2921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000252 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000750 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001249 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001263 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001288 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001999 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0003086 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0011968 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000505 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000708 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000729 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000733 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000739 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001250 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001508 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001511 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001518 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002119 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002373 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002465 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0011451 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000028 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000341 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000400 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000411 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000426 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000483 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000486 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000490 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000540 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000543 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000545 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000577 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000646 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000752 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001166 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001659 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001770 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002013 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002020 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002079 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002120 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002365 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002719 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002828 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0004209 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0007957 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0010442 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0010627 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0010864 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0011832 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000047 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000054 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000107 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000122 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000125 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000126 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000767 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000964 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001562 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001629 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001643 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001650 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001822 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002021 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002247 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002280 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002650 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002808 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0003187 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0003319 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0004322 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0010219 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0001732 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0002020 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0002027 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0002086 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0002093 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0002239 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0002240 ORPHA:2924 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0002617 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0003270 ORPHA:2924 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0003418 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0003573 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0005562 ORPHA:2924 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0006557 ORPHA:2924 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2924 Isolated polycystic liver disease HP:0008872 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0001460 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0003202 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0003560 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0007328 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0040129 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0100490 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0000966 ORPHA:2926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0002046 ORPHA:2926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0004370 ORPHA:2926 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001260 ORPHA:217012 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001272 ORPHA:217012 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0002066 ORPHA:217012 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0000639 ORPHA:217012 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001265 ORPHA:217012 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0000365 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001257 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001337 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001347 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0002495 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:217012 Spinocerebellar ataxia type 31 HP:0006801 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0001647 ORPHA:402075 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0001650 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0001659 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0001680 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0004380 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0004962 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0030148 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0000822 ORPHA:402075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0005113 ORPHA:402075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0004383 ORPHA:402075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0004933 ORPHA:402075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:402075 Familial bicuspid aortic valve HP:0011103 ORPHA:402075 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001263 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001999 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0008551 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0008872 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0008947 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0012385 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000089 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000239 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000347 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000405 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000938 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001159 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0002342 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0002778 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0011471 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000047 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000160 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000252 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000286 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000316 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000327 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000431 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0000581 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001004 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001251 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001274 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001320 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001545 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001627 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001642 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0001762 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0002025 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0002079 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0002119 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0002282 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0002779 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0002825 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0004322 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0006989 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0008197 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0010864 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0040079 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0100716 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314679 Cerebrofacioarticular syndrome HP:0200138 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000232 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000252 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000280 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000486 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000488 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000512 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000613 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000639 ORPHA:578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000691 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000708 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0000982 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0001249 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0001251 ORPHA:578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0001252 ORPHA:578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0001288 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0001344 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0001347 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0002353 ORPHA:578 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0002816 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0004345 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0004422 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0005105 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0007281 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0007703 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0007957 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0010318 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:578 Mucolipidosis type IV HP:0011020 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0000023 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0000175 ORPHA:577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0000269 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0000280 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0000364 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0000505 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0001061 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0001387 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0001646 ORPHA:577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0001654 ORPHA:577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0001999 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0030680 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0003272 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0003307 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0003312 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0004322 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0004349 ORPHA:577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0004493 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0007957 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0008818 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0008821 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0012378 ORPHA:577 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:577 Mucolipidosis type III HP:0100543 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000175 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000347 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000774 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0002781 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0002983 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0008905 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000162 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000407 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000520 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000882 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000947 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0001156 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0001622 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0002007 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0002980 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0003016 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0003097 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0011003 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0011800 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000023 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000179 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000212 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000232 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000238 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000246 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000256 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000268 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000271 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000280 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000293 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000294 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000365 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000389 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000407 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000488 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000501 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000505 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000648 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000687 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000691 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0000944 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0001171 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0001249 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0001373 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0001387 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0001608 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0001635 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0001639 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0001646 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0001654 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0001744 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0002024 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0002104 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0002205 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0002230 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0002376 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0002650 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0002829 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0003272 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0003312 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0003401 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0003416 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0004322 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0004374 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0005105 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0005280 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0005930 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0007957 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0008155 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0009928 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0010885 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0012735 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0100261 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0100625 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0100765 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:579 Mucopolysaccharidosis type 1 HP:0100790 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000091 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000160 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000164 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000211 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000217 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000225 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000230 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000262 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000365 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000656 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000772 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000795 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000924 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000929 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000963 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000964 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000972 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0001025 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0001053 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0001096 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0005916 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0001810 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0002745 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0002860 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0003272 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0004322 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0005692 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0006101 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0006323 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0006740 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0007400 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0007759 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0008064 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0008066 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0008391 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0008404 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0010296 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0010783 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0010807 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0011024 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0100490 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0100585 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0100587 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0100669 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0200034 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0200039 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0200042 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000230 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000262 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000509 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000656 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000670 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000682 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000704 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000772 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000929 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000962 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000982 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000987 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0000992 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0001000 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0001029 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0001056 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0001371 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0001581 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0001602 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0001741 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0001903 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0002015 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0002037 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0002043 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0002583 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0002860 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0004378 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0006101 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0006323 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0007957 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0008065 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0008066 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0008388 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0010044 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0010047 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0010783 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0012227 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0100490 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0100517 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0100633 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2908 Kindler epidermolysis bullosa HP:0100825 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000988 ORPHA:2909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001029 ORPHA:2909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0025300 ORPHA:2909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000164 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000653 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000789 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000924 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001518 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0004322 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0004349 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0007556 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0007588 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0008066 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0008070 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0010765 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0045075 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000282 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000670 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000682 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000684 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000685 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000691 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0000938 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001010 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001118 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001592 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001597 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001792 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001871 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0002013 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0002014 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0002164 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0002659 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0003022 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0003993 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0006498 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0006501 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0008065 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0008069 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0009778 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0011069 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0031367 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0100585 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0100671 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001875 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001903 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001909 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0001915 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0002671 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0002860 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0002861 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0002863 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0003761 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0007418 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0011470 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2909 Rothmund-Thomson syndrome HP:0200044 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0004912 ORPHA:289176 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0000117 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0000407 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0000684 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0001510 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002652 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002653 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002749 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002812 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002814 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002970 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0003020 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0003109 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0004322 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0004576 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0005096 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0005764 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0006463 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0008732 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0010639 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0011001 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0011036 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0012052 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100511 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100559 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100671 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0001363 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002024 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002982 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0003416 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0030757 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100036 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100686 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100781 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0001250 ORPHA:289176 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0001324 ORPHA:289176 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0003472 ORPHA:289176 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0001555 ORPHA:2911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0006709 ORPHA:2911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0007485 ORPHA:2911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0009751 ORPHA:2911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0010311 ORPHA:2911 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000089 ORPHA:2911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0001155 ORPHA:2911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0006008 ORPHA:2911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0009700 ORPHA:2911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0200055 ORPHA:2911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000028 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000047 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000070 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000076 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000081 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000252 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000356 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000470 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000545 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000766 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000768 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000772 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000773 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000776 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000819 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000912 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0000921 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0001156 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0001161 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0001171 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0001392 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0001631 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0001651 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0002084 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0002162 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0002488 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0002650 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0002808 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0002814 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0002937 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0040071 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0003063 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0003298 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0003422 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0004050 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0004349 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0006101 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0006501 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0006714 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0007477 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0008678 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0009594 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0009601 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0010579 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2911 Poland syndrome HP:0100013 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0001324 ORPHA:2912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0012531 ORPHA:2912 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0001284 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0001287 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0001348 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0001945 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002013 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002018 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002039 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002315 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002829 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0003202 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0003326 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0003470 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0003546 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0004302 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0007340 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0009004 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0010547 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0011805 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0012378 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0012486 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0025258 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0025439 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0031469 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0040131 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0001283 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0001618 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002015 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002374 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002380 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002385 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002483 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002487 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002540 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002590 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002721 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002878 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0003401 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0003484 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0004887 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0006824 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0030196 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0030813 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0031058 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0000713 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0000737 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0000822 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0001259 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0001289 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002383 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0002615 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2912 Poliomyelitis HP:0031274 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000175 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000286 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000303 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000474 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000632 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000668 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000682 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0001156 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0001162 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0001347 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0001357 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0001572 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002162 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0030680 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002650 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002808 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002937 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002948 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002999 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0003042 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0003312 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0004209 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0004322 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0005988 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0008479 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0009738 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0009906 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0010935 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0100672 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000086 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000202 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000238 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000316 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000347 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000365 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000413 ORPHA:268249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000567 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000568 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000572 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000612 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000625 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000776 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001256 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001274 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001629 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001680 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001789 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001800 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001829 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0002006 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0002575 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0002779 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0004279 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0008437 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0008551 ORPHA:268249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0009892 ORPHA:268249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268249 Mycophenolate mofetil embryopathy HP:0011803 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000010 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000075 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000093 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000175 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000204 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000465 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000508 ORPHA:33001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000509 ORPHA:33001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000518 ORPHA:33001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000613 ORPHA:33001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000656 ORPHA:33001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000819 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0001324 ORPHA:33001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0001581 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0001643 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0001970 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0030680 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0002619 ORPHA:33001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0003550 ORPHA:33001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0004930 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0009743 ORPHA:33001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0009745 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0011675 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0100244 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0100820 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33001 Lymphedema-distichiasis syndrome HP:0200020 ORPHA:33001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000708 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001249 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001256 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001263 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001270 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001999 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000321 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000486 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000504 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000739 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000750 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001319 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002019 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002086 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002360 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0007018 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000125 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000154 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000219 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000286 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000316 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000337 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000358 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000365 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000395 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000414 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000431 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000455 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000490 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000539 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000572 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000574 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000637 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000664 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000718 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000729 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000954 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001007 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001156 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001212 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001260 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001344 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001513 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001763 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001956 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002015 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002020 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002069 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002099 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002119 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002205 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002793 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0003186 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0004279 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0005280 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0005288 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0008081 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0009794 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0011147 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0011171 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0011220 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0011822 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0012076 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0012704 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0040288 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0100581 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0100702 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0100716 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35664 ALDH18A1-related De Barsy syndrome HP:0000518 ORPHA:35664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35664 ALDH18A1-related De Barsy syndrome HP:0000974 ORPHA:35664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35664 ALDH18A1-related De Barsy syndrome HP:0001249 ORPHA:35664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35664 ALDH18A1-related De Barsy syndrome HP:0001263 ORPHA:35664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35664 ALDH18A1-related De Barsy syndrome HP:0005692 ORPHA:35664 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000708 ORPHA:261197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000729 ORPHA:261197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001263 ORPHA:261197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000256 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000750 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001249 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001256 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001270 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001328 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0006863 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0007018 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0009088 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0011351 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0410263 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000316 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000337 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000347 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000405 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000407 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000717 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000733 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000735 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001250 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001266 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001332 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001508 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001513 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001627 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001631 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001646 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001999 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002020 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002119 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002280 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002650 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002691 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0003468 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0007099 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0007166 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0011098 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0011800 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0011968 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0100702 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000003 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000175 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000776 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000902 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001161 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001363 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001651 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002021 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0003396 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0003510 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0005930 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0011304 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0100490 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0100679 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0000581 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0001482 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0002650 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0002967 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0012745 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0100795 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0000486 ORPHA:2900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0003042 ORPHA:2900 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0000582 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0000944 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0001072 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0001156 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0005916 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0001167 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0001288 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0001387 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0002816 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2900 Leri pleonosteosis HP:0003312 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0000160 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0000175 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0000311 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0000912 ORPHA:2901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0001063 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0001271 ORPHA:2901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0001324 ORPHA:2901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0002093 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0002167 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0002829 ORPHA:2901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0002360 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0003401 ORPHA:2901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0003457 ORPHA:2901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0003691 ORPHA:2901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0004322 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2901 Neuralgic amyotrophy HP:0009830 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000023 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000164 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000175 ORPHA:261190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000252 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000276 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000307 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000319 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000322 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000341 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000343 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000369 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000426 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000444 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000490 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000717 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0001061 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0001249 ORPHA:261190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0001250 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0001263 ORPHA:261190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0001601 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0001631 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0002650 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0002721 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0002808 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0004322 ORPHA:261190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0004422 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0000750 ORPHA:261190 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261190 15q14 microdeletion syndrome HP:0001629 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0031983 ORPHA:2902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0032177 ORPHA:2902 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0001047 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0001974 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002091 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002094 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002099 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002960 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0003212 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0003565 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0006516 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0011227 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0012418 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0030828 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0030830 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0031246 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0032017 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0032061 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0001824 ORPHA:2902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0001945 ORPHA:2902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002829 ORPHA:2902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0025406 ORPHA:2902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0030166 ORPHA:2902 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002202 ORPHA:2902 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0011024 ORPHA:2902 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0011354 ORPHA:2902 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0100750 ORPHA:2902 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2903 Familial spontaneous pneumothorax HP:0002086 ORPHA:2903 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2903 Familial spontaneous pneumothorax HP:0002103 ORPHA:2903 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2903 Familial spontaneous pneumothorax HP:0002107 ORPHA:2903 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001271 ORPHA:2905 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0000135 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0000818 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0003271 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0005523 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0010702 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0011122 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0000771 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0000819 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0000821 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0000953 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0000969 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0000998 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001028 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001072 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001085 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001284 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001324 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001541 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001698 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001820 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001824 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001894 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0002092 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0002202 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0002694 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0002716 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0003401 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0004054 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0004576 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0004979 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0008207 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0012378 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0012531 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0100639 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0100759 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0100925 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0000870 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001063 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0001901 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0002091 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0002747 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0004420 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0004936 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0009125 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2905 POEMS syndrome HP:0100963 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002720 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002721 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0004315 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0004322 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0006254 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0010997 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0001328 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0001954 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0001999 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002090 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0006532 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0011108 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0011109 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0012387 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0000252 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0000388 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0000524 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0000712 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0001009 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0001251 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0001263 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0001288 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0001369 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0001824 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002014 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002027 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002091 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002206 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002312 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002315 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002500 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002850 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0002878 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0004429 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0006530 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0007057 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0007108 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0008940 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0010677 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0010783 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0012768 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0030746 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420741 RIDDLE syndrome HP:0040189 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000708 ORPHA:466943 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001249 ORPHA:466943 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001263 ORPHA:466943 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001999 ORPHA:466943 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0008947 ORPHA:466943 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000321 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000356 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000486 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000504 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000739 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000750 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001250 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001344 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002019 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002194 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002360 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002579 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0007018 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0010862 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0011968 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0030190 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000154 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000219 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000286 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000316 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000358 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000395 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000414 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000431 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000455 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000483 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000490 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000545 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000637 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000664 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000718 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000729 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001156 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001260 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001513 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002015 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002020 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002099 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002119 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002342 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002370 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002714 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002719 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0003186 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0005280 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0006889 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0011220 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0011822 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0012704 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0030863 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0040288 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0100704 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0100716 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000125 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000405 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000407 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000954 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001763 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002069 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002121 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002373 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0004279 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0008081 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0100581 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0100702 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0001917 ORPHA:314652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0012185 ORPHA:314652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0012622 ORPHA:314652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0000157 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0002176 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0002756 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0003365 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0005244 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0007141 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0010286 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0011805 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0011915 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0012065 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0012280 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0012309 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0012332 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0012664 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0025015 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0030834 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0030836 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0030839 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0030843 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0031368 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314652 Variant ABeta2M amyloidosis HP:0100292 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000218 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000341 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000347 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000506 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000508 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000750 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0001270 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0001319 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0002002 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0002098 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0002353 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0005280 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0005338 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0005487 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0008872 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0010804 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0010864 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0012444 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0012448 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0410263 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000369 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000463 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000494 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0001250 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0001336 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0001627 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0002104 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0002791 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0003196 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0006532 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0006829 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0010442 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0011097 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0011098 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0011167 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0011951 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0025190 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0001952 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0003074 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0003076 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0004924 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0030794 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0040214 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0040216 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0040217 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0000112 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0000488 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0000825 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0000831 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0001511 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0001520 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0001998 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0008255 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0025502 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0000077 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0000107 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0000119 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0001513 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0001738 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0002594 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0012028 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0000956 ORPHA:552 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0001953 ORPHA:552 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:552 MODY HP:0030057 ORPHA:552 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0000407 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0000648 ORPHA:551 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0001012 ORPHA:551 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0001251 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0002123 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0003198 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0003200 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0003457 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0004322 ORPHA:551 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0100022 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:551 MERRF HP:0100543 ORPHA:551 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0012378 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000365 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000505 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000518 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000716 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000739 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001952 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001251 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001254 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001260 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001265 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001272 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001288 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001290 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001337 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001349 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001508 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001644 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001712 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002015 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002019 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002020 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002063 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002066 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002071 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002093 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002151 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002359 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002375 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002396 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002578 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002875 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003236 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003326 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000508 ORPHA:254892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000544 ORPHA:254892 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000338 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000496 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000597 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000602 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002067 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002322 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003198 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003200 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003458 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003546 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003547 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003688 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003690 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003731 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003737 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0010628 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0012103 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003388 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003477 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003551 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0004308 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0005110 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0007042 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0009830 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0011675 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0012664 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000017 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000819 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000821 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000836 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000853 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000939 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000969 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001250 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001276 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001392 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001946 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001962 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002076 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002910 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003394 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003438 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0007302 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0100543 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0100704 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001249 ORPHA:508498 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000219 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000308 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000343 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000365 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000431 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000470 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000589 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000998 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001155 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002761 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0004322 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0011842 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0011968 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0030680 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000047 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000085 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000089 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000104 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000125 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000252 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000303 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000347 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000480 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000486 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000540 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000545 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000565 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000568 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000609 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000612 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000646 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000729 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000733 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000767 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000974 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001052 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001177 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001274 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001629 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001636 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001647 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001659 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001660 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001680 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001738 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001763 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001845 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002079 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002119 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002360 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002414 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002827 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002942 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002943 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002949 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0003835 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0004209 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0004279 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0004691 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0005620 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0006009 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0006695 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0006712 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0006970 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0007687 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0007874 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0008467 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0009237 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0009997 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0010055 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0010628 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0011304 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0011682 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0012487 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0012745 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0012795 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0025481 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000726 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001250 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001324 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002076 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002151 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002353 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002381 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002401 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0003128 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0003200 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0008316 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0012429 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0012766 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000407 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000572 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000709 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000716 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000736 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000739 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000819 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001251 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001269 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001288 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001298 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001328 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001336 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002013 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002069 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002135 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002331 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002354 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002490 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002922 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0003198 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0004322 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0007159 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0007359 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0009830 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0010794 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000093 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000097 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000112 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000114 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000580 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000590 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000648 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000751 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000998 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001045 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001263 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001270 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001274 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001345 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001508 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001638 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001639 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001644 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001716 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001903 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0001945 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002014 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002019 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002079 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002092 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002120 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0002579 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0003477 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0003546 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0004372 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0004389 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0005157 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0005978 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0007067 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0007141 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0007302 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0007327 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0010783 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0011442 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0012444 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0012707 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0025268 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0031546 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0100027 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0100651 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000044 ORPHA:550 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000821 ORPHA:550 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:550 MELAS HP:0000829 ORPHA:550 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001249 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001263 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001288 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001999 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011968 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0410263 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000119 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000252 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000426 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000478 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001182 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001250 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001251 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001344 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001511 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001518 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001531 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001760 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001780 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002019 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002119 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002136 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002365 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002465 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0003429 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0004322 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0005768 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011757 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000010 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000023 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000028 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000041 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000047 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000049 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000122 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000278 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000411 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000430 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000455 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000486 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000490 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000518 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000540 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000545 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000565 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000582 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000718 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000729 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000739 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000767 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000818 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001276 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001562 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001822 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002015 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002020 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002021 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002033 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002069 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002079 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002120 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002123 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002171 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002360 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002373 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002650 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002808 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0003196 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0010819 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0010946 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011147 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011470 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011822 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011917 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0012171 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0025163 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000054 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000185 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000365 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000483 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000541 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000612 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000687 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000821 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000824 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000960 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001256 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001627 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001629 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001641 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001650 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001659 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0010314 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0010442 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011069 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0040188 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0100783 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0000174 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0000377 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0000708 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0000750 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001249 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001263 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001270 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001999 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0002354 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0006891 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0007018 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0010522 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0410263 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0000252 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0000337 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0000717 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0000729 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0000736 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001250 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001251 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001627 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0002172 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0002370 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0100716 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0100753 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001629 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001631 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001636 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0001680 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0002198 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261183 15q11.2 microdeletion syndrome HP:0005160 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000256 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001250 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001252 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001263 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001355 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001561 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001999 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0012469 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0002119 ORPHA:500533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0012430 ORPHA:500533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0030891 ORPHA:500533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000121 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000154 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000194 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000275 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000297 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000348 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000873 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001344 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001388 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001508 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001631 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001635 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0002133 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0002307 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0002384 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0002553 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0003199 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0006829 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0010804 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0011182 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0011344 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0011968 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0030680 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0000083 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0000093 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0000738 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0000790 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0000952 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0001251 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0001324 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0001701 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0001733 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0001744 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0001888 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0001945 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002014 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002017 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002027 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002039 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002076 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002088 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002091 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002093 ORPHA:549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002103 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002105 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002113 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002383 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002615 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002716 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002829 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0002902 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0003326 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0004372 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0005528 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0009830 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0011675 ORPHA:549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0012115 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0012378 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0012735 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0012819 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0100584 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0100658 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0100749 ORPHA:549 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0100776 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:549 Legionnaires disease HP:0100806 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0009830 ORPHA:548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0000962 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0000966 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0002231 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0003202 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0003401 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0003489 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0006121 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0010829 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0010835 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0012181 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0012332 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0012645 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0020073 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0200036 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0000421 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0001026 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0001324 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0001596 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0002087 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0002223 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0003376 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0007460 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0009027 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0010827 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0011334 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0011457 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0011821 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0012155 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0012185 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0012500 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0012804 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0030003 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0030351 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0012534 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0000501 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0000554 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0000618 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0000771 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0000834 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0001101 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0001392 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0001743 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0005561 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0032404 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:548 Leprosy HP:0100583 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0001004 ORPHA:545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0001287 ORPHA:545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0001744 ORPHA:545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0001824 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0001945 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0002202 ORPHA:545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0002585 ORPHA:545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0002665 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0002716 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0012378 ORPHA:545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0030166 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0100721 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:545 Follicular lymphoma HP:0200036 ORPHA:545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99657 Primary dystonia, DYT2 type HP:0001304 ORPHA:99657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99657 Primary dystonia, DYT2 type HP:0000473 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99657 Primary dystonia, DYT2 type HP:0000643 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99657 Primary dystonia, DYT2 type HP:0001260 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99657 Primary dystonia, DYT2 type HP:0001337 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99657 Primary dystonia, DYT2 type HP:0002355 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99657 Primary dystonia, DYT2 type HP:0002451 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99657 Primary dystonia, DYT2 type HP:0004305 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99657 Primary dystonia, DYT2 type HP:0011968 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99657 Primary dystonia, DYT2 type HP:0007325 ORPHA:99657 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001873 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001903 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001945 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002910 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002958 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0003073 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0003281 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0011112 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0011118 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0012145 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0012156 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0030356 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000967 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000979 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000988 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001019 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001410 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001744 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001875 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002086 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002155 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002240 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002611 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002716 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0003256 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0011121 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0011900 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0012178 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0012211 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0012229 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0030783 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0031364 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000707 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000952 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000978 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001250 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001259 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002383 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002500 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002583 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0004302 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0004313 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0009830 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0040186 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000407 ORPHA:540 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0002149 ORPHA:543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0005561 ORPHA:543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0025435 ORPHA:543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0100649 ORPHA:543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0000137 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0001392 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0001732 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0001743 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0002017 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0002027 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0002239 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0002733 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0005214 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:543 Burkitt lymphoma HP:0005407 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007722 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000622 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000505 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0011488 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0011484 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007787 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0001116 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000541 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0012230 ORPHA:364055 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000546 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000662 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000550 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000639 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007695 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0012434 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0002172 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007994 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000613 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000577 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000543 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0012426 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007843 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007703 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0001103 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007814 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007737 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000551 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007663 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000545 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000533 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0002317 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0011342 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007793 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0003445 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0006873 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0007240 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0011402 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0012514 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0031006 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0007220 ORPHA:208981 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0007340 ORPHA:208981 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000298 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000544 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0001638 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002015 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003198 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003200 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003390 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003401 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003688 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003737 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0009830 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0010628 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000365 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000479 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000505 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000508 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000648 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000716 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0001251 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0001265 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0001272 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0001621 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002059 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002067 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002345 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002362 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002396 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002500 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002548 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002921 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002936 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003546 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003552 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003701 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0007641 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0025403 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0030237 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0100295 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0100653 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003236 ORPHA:254886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003691 ORPHA:254886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0100543 ORPHA:254886 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000028 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000046 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000089 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000248 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000272 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000286 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000316 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000347 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000348 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000358 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000365 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000378 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000384 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000413 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000430 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000494 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000508 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000520 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000528 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000835 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000864 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0000873 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0001252 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0001263 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0001274 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0001558 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0001770 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0001773 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0002119 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0002714 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0002750 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0004209 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0004279 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0004322 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0006101 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0007598 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0010044 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0010047 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0010627 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:264200 14q22q23 microdeletion syndrome HP:0012521 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002448 ORPHA:496756 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002497 ORPHA:496756 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0003693 ORPHA:496756 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0007269 ORPHA:496756 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001249 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001260 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001263 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001272 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001290 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002079 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002376 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0003444 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0003477 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0003698 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0009027 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0000648 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001285 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002425 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002650 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0007199 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0012678 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001250 ORPHA:496756 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0000829 ORPHA:496756 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001510 ORPHA:496756 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0000737 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001250 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001263 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001508 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0008872 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0008947 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0012171 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0000252 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002187 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002360 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002521 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0010864 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0000455 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001118 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001257 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001371 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002059 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002376 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002650 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0005949 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0012430 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0012448 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0040288 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0000008 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0000238 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0000648 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0000790 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0001000 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0001004 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0001250 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0001541 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0001945 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0002027 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0002091 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0002094 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0002097 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0002105 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0002107 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0002113 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0002205 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0002239 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0002716 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0005562 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0006772 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0009594 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0009721 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0009726 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0010310 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0011852 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0012086 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0012378 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0012733 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0012735 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0012798 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0100543 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0100749 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0100750 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0100763 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:538 Lymphangioleiomyomatosis HP:0100804 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0001824 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0001873 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0001875 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0001959 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002015 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0008066 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0010783 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0012378 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0012733 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0100792 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0100806 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0001903 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002024 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002027 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002205 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002910 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0003781 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0012735 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0100518 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0000083 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0000142 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0000509 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0000572 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0000613 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0000621 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0000795 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0001637 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0001645 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0001733 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002017 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002091 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002098 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002103 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002239 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0002575 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0006554 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0031368 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0200020 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:537 Toxic epidermal necrolysis HP:0200042 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0000853 ORPHA:319487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002176 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002653 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002730 ORPHA:319487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002733 ORPHA:319487 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002757 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002895 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0003003 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0005994 ORPHA:319487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0006528 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0006731 ORPHA:319487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0006766 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0012288 ORPHA:319487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0012531 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:3000037 ORPHA:319487 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000023 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000027 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000028 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000083 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000091 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000093 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000121 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000164 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000189 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000194 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000219 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000230 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000232 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000276 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000293 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000303 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000343 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000347 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000368 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000389 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000411 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000486 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000490 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000501 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000518 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000557 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000568 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000582 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000615 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000632 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000639 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000646 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000670 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000678 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000679 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000682 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000684 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000704 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000716 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000722 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000733 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000739 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000772 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000787 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000790 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000823 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000843 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000859 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000873 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000926 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000944 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000987 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001249 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001250 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001284 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001319 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001369 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001386 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001387 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001508 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001522 ORPHA:534 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001537 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001608 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001873 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001903 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001944 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002002 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002007 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002019 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002020 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002024 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002049 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002093 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002119 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002148 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002150 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002151 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002169 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002205 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002209 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002213 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002353 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002381 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002650 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002749 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002757 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002808 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002827 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002857 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002900 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002902 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002999 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0003124 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0003355 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0004322 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0005469 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0005562 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0005692 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0005930 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0007018 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0007513 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0007731 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0007957 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0008069 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0008872 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0009804 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0010471 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0010807 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0011527 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100493 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100512 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100530 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100589 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100612 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100716 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100750 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100820 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100825 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100835 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0200042 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001919 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002090 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002098 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002383 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002586 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002754 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0003095 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0003201 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0004302 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0005521 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0007432 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0011955 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0012089 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0012747 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0012819 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0025059 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0032162 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0100523 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0100584 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0100806 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0200039 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001945 ORPHA:533 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001287 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002013 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002018 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002315 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002922 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0003326 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0010987 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0011450 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0011972 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0012378 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0025143 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0025258 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0031864 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0000236 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0000737 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001250 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001251 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001269 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001336 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001337 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001622 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002014 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002027 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002721 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002829 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002878 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0002955 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0003418 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0003474 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0005268 ORPHA:533 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0006824 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0007185 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0012330 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0025615 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0030049 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0031179 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0100022 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0000365 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0000509 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0000572 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0000952 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001082 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001249 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001297 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001635 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:533 Listeriosis HP:0001701 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0002715 ORPHA:535 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0005339 ORPHA:535 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0011121 ORPHA:535 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0025300 ORPHA:535 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0030057 ORPHA:535 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0000992 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0007417 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0010783 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0011830 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0025474 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0025475 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0025526 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0025528 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0040186 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0040189 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0100585 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0100803 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0200035 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0000155 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0000234 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0000282 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0000363 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0000464 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0001025 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0001075 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0001217 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0001232 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0001438 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0001454 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0001482 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0001806 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0001820 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0001965 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0002165 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0002293 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0002814 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0002815 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0003043 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0004552 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0007432 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0007473 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0007502 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0008066 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0008404 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0009123 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0009811 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0011276 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0011911 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0012490 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0012500 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0030254 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0031093 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0031190 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0031191 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0031234 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0031293 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0032156 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0032217 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0100539 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0100825 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0100871 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0100872 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0200039 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:535 Rare cutaneous lupus erythematosus HP:0200041 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0012321 ORPHA:99646 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003016 ORPHA:99646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003025 ORPHA:99646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0005701 ORPHA:99646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0005868 ORPHA:99646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0011849 ORPHA:99646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000926 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001367 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001508 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001510 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001511 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003021 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003301 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0004322 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0009803 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0030294 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0030295 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0030296 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0030297 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000122 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000233 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000256 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000278 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000337 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000343 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000400 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000470 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000494 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000506 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000519 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000666 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000914 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000958 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001048 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001263 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001270 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001290 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001601 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001684 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002033 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002098 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002119 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002453 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002515 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002828 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002970 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003029 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003796 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0004242 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0004626 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0004820 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0004948 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0006532 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0006610 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0007033 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0007361 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0007375 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0007486 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0010576 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0011470 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0011681 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0011968 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0012448 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0012762 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0012766 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0025473 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0030866 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0100255 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0100764 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0100806 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0200035 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0003077 ORPHA:391665 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0003124 ORPHA:391665 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0003141 ORPHA:391665 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0004416 ORPHA:391665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0005177 ORPHA:391665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0000822 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001397 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001645 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001658 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001681 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001920 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0002094 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0004950 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001677 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0005162 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0005181 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0006693 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0007201 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0012397 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0030148 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0100261 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:3000062 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0000799 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0000991 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001653 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0002829 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0004381 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0004963 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0010874 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001138 ORPHA:391665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0012373 ORPHA:391665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0012638 ORPHA:391665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391665 Homozygous familial hypercholesterolemia HP:0030882 ORPHA:391665 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0000164 ORPHA:573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0000499 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0000518 ORPHA:573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0000534 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0008070 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0001249 ORPHA:573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0001597 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0002213 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0002217 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0002232 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0002299 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0007502 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0100543 ORPHA:573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:573 Monilethrix HP:0100753 ORPHA:573 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0000212 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0000280 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001072 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001270 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001537 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001538 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001609 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0002474 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0004322 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0006596 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0008897 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0030680 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0031650 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0000388 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0000405 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0000774 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001363 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001376 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001633 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001653 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0002091 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0002465 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0002540 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0002870 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0005280 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0010444 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0012368 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0045027 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0100543 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0000023 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0000286 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0000586 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001433 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001540 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001562 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001638 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001646 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001655 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001659 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001712 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001762 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001824 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0002205 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0002213 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0002808 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0002827 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0003273 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0005487 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0006203 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0006248 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0006380 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0006467 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0007421 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0008936 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0010307 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0011314 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0011359 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0011364 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0012389 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0000407 ORPHA:576 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0001744 ORPHA:576 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0004887 ORPHA:576 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:576 Mucolipidosis type II HP:0011471 ORPHA:576 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000078 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000100 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000112 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000174 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000256 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000366 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000408 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000501 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000509 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000554 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000648 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000823 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0000988 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0001025 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0001369 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0001608 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0001744 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0001761 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0001769 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0001903 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0001917 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0001939 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0001945 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0002027 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0002091 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0002240 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0002633 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0002829 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0003326 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0003565 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0004299 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0004322 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0006824 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0008064 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0011107 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0100490 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:575 Muckle-Wells syndrome HP:0100534 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003365 ORPHA:99642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0008800 ORPHA:99642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0008843 ORPHA:99642 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0000924 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0000925 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0000926 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0002355 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0002938 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003179 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003273 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003521 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0004322 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0004594 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0009046 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0010575 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0030043 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0001155 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0001385 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0002515 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0002812 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0002815 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003510 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0004026 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0005108 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0006387 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0006429 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0008812 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0030839 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0100864 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000044 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000175 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000194 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000218 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000232 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000286 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000298 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000347 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000365 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000486 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000498 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000505 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000508 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000602 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000691 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0000717 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0001156 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0001252 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0001270 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0001522 ORPHA:570 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0001608 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0001762 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0002015 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0002804 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0040071 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0003202 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0004050 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0004209 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0004408 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0005914 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0006101 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0006501 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0006824 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0007565 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0007957 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0008872 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0009601 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0009751 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0009804 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0010295 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0010628 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570 Moebius syndrome HP:0100783 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0031390 ORPHA:572 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002205 ORPHA:572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0004798 ORPHA:572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005354 ORPHA:572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0000246 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001508 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002014 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002718 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002726 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002728 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002841 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0004313 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0004385 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0004429 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005353 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005368 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005386 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005401 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005407 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0012384 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0025347 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0030991 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0200124 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0000371 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0000988 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001875 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001876 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001890 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001904 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001973 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002960 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0003139 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005403 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0031381 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0031394 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001260 ORPHA:572 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001999 ORPHA:572 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002066 ORPHA:572 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003198 ORPHA:254875 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001290 ORPHA:254875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001324 ORPHA:254875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002093 ORPHA:254875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002333 ORPHA:254875 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001252 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001265 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001270 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001531 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002098 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002197 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002355 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002376 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002460 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002747 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002878 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003202 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003324 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003546 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003698 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0006532 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0007105 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0008872 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0009073 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0012432 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0000590 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0000597 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001260 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001283 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001488 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002015 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003326 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0005946 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0008610 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0008625 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0030319 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002650 ORPHA:254875 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0007269 ORPHA:254875 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0100543 ORPHA:254875 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000076 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000113 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000130 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000160 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000238 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000252 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000272 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000286 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000343 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000347 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000369 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000385 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000396 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000426 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000431 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000470 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000486 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000494 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000508 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000518 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000568 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000582 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000627 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000682 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000708 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000717 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000739 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000778 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000929 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001053 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001136 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001250 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001281 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001561 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001631 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001636 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001641 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001643 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001646 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000023 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000028 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000047 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000089 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000164 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000175 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000262 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000276 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000316 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000322 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000365 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000389 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000405 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000414 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000453 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000492 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000501 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000506 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000600 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000648 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000670 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000716 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000765 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000821 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000829 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000836 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0000979 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001051 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001061 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001081 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001161 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001166 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001249 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001252 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001256 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001263 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001328 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001369 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001508 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001511 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001513 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001537 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001601 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001611 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001629 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001660 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001744 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001762 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001829 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001872 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001873 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0001999 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002019 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002020 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002023 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002099 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002139 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002239 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002251 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002381 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002414 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002435 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0030680 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002566 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002607 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002619 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002650 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002691 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002721 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002901 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002960 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002999 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0003326 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0004322 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0005435 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0005562 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0005692 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0006510 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0002101 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0007018 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0007271 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0007302 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0008872 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0011324 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0011496 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0011662 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0012303 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0012732 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0100735 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0100750 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0100753 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567 22q11.2 deletion syndrome HP:0100765 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0007695 ORPHA:566 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0007730 ORPHA:566 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0007990 ORPHA:566 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0012805 ORPHA:566 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0000483 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0000505 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0000613 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0007906 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0012047 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0012108 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0031730 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0100018 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0000485 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0000519 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0000618 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0000622 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0000662 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:566 Congenital microcoria HP:0012040 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001324 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002077 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002167 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002353 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011153 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011157 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0000365 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0000575 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0000651 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001260 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001269 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001289 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001308 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002172 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002181 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002321 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002922 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0003401 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0004305 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0007240 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0010835 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011172 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011468 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0012229 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0012508 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0030786 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0200149 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0000360 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001259 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001272 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002301 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002381 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0010829 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0007209 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0007979 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0008959 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0010544 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0010833 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011199 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0012044 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0031179 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0032044 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0032506 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001249 ORPHA:569 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002133 ORPHA:569 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0003392 ORPHA:569 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011196 ORPHA:569 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:569 Familial or sporadic hemiplegic migraine HP:0100576 ORPHA:569 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000028 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000047 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000072 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000126 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000164 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000202 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000252 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000365 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000368 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000384 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000465 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000482 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000501 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000505 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000518 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000567 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000568 ORPHA:568 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000588 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000612 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000639 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000684 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0000889 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0001249 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0001250 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0002167 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0030680 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0002650 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0002808 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0003043 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0003307 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0004209 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0004322 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0006101 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0006482 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0007370 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0008572 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0008678 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0009755 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0009943 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0100490 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0100716 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568 Microphthalmia, Lenz type HP:0100818 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0000822 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0001635 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0001644 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0001649 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0001712 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0001962 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0002094 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0002875 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0005135 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0010741 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0011703 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0012378 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0012664 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0012764 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0025169 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0030848 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0001653 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0001708 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0001907 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0002092 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0004756 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0005120 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0005133 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0006705 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0012398 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0012763 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0012819 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0030148 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0030356 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0030830 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0031295 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0100749 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0000819 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0001513 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0001903 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0002027 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0002099 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0002401 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0002878 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0002926 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0002960 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0011713 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:563 Peripartum cardiomyopathy HP:0030149 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001263 ORPHA:508488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002342 ORPHA:508488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0004322 ORPHA:508488 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000219 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000286 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000293 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000319 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000321 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000343 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000358 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000431 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000455 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000463 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000470 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000729 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001155 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001388 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001511 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001627 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002474 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0004209 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0004220 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0007663 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0008081 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0008872 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0010722 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0011470 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0040019 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000023 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000076 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000077 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000122 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000125 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000300 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000308 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000341 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000480 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000486 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000490 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000527 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000574 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000577 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000582 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000609 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000744 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000752 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000767 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000774 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000817 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000891 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0000954 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001250 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001290 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001374 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001385 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001518 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001562 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001629 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001643 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001660 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001674 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001680 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001738 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001763 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001838 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0001883 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002015 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002020 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002079 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002098 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002101 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002239 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002283 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002553 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002943 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0002983 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0003097 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0003298 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0005176 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0005306 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0005484 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0006695 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0007633 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0009237 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0009796 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0010109 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0010511 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0010529 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0010609 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0010733 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0011067 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0011220 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0011332 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0011406 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0011755 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0012304 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0012584 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0100033 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0100807 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:0010289 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508488 8q24.3 microdeletion syndrome HP:3000038 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000138 ORPHA:562 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000826 ORPHA:562 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0005605 ORPHA:562 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0031072 ORPHA:562 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000035 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000053 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000124 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000820 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000836 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0001507 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0002650 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0002693 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0002823 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0005616 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0010734 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0010736 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0011821 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0030088 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000117 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000144 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000271 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000324 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000365 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000689 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000845 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000853 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000858 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000870 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0001733 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0001742 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0002020 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0002653 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0002749 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0002757 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0003401 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0006719 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0008768 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0010735 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0010791 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0012028 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0020110 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0000572 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0001396 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0001579 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0001876 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0002148 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0003002 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0003109 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0003118 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0005528 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0012063 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0012115 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:562 McCune-Albright syndrome HP:0030428 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000015 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000023 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000174 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000252 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000269 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000293 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000298 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000347 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000708 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000767 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000774 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000934 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000939 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000944 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000958 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000974 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0000987 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0001072 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0001249 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0001250 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0001252 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0001257 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0001276 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0001324 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0001511 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0001537 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0001943 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002017 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002024 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002045 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002072 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002170 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002224 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002239 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002376 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002617 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002645 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002754 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0002757 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0005293 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0005344 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0005599 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0005692 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0006487 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0006579 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0007420 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0008070 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0008368 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0008872 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0010318 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0012378 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0100545 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0100777 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0100790 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565 Menkes disease HP:0100806 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000003 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000028 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000037 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000062 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000068 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000073 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000175 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000221 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000238 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000252 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000293 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000316 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000340 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000347 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000368 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000457 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000482 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000518 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000528 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000532 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000568 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000647 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0000648 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0001162 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0001177 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0001305 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0001562 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0001696 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0001737 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0001746 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0001747 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0001830 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0001883 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0002084 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0002323 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0030680 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0002612 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0006487 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0006706 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0006870 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0007370 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0008053 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0010295 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0010459 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:564 Meckel syndrome HP:0100732 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000278 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000463 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000520 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000963 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0001249 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0001508 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0003100 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0005616 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0005692 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0006487 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0011220 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000194 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000316 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000405 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000592 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000978 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0002230 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0002650 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0002659 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0003196 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0004349 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0010808 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000212 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000453 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0000648 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0001321 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0001363 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0002119 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:561 Marshall-Smith syndrome HP:0030680 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000164 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000175 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000215 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000248 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000272 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000327 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000343 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000347 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000407 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000431 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000463 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000501 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000518 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0045075 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000541 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000545 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000646 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0007773 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0002007 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0002684 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0002758 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0002829 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0004322 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0004327 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0005280 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0010669 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0012368 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000179 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000218 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000316 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000486 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000505 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000520 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000639 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000653 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0000966 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0008070 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0001083 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0002514 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0002738 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0002857 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:560 Marshall syndrome HP:0003196 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001622 ORPHA:391673 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001518 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001875 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001974 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0002014 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0002902 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0003270 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0012537 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0025085 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0000969 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001254 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001541 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001543 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001627 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001662 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001873 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001941 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0001942 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0002013 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0002104 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0002151 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0002586 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0002615 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0003074 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0005521 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0005968 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0011014 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0031273 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391673 Necrotizing enterocolitis HP:0040187 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000256 ORPHA:589821 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000297 ORPHA:589821 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0010804 ORPHA:589821 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0031843 ORPHA:589821 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000736 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001319 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001622 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001883 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002119 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002486 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002643 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002650 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0007010 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0011098 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0011705 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0011710 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000518 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000729 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000750 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000752 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000805 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001558 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001561 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001643 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001671 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002014 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002015 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002019 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002020 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002027 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002360 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0004325 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0040183 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001513 ORPHA:589821 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001290 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001324 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0003198 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0003200 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0003688 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0009051 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0009058 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001265 ORPHA:254864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0002098 ORPHA:254864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0004900 ORPHA:254864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0008180 ORPHA:254864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0011923 ORPHA:254864 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0000158 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0000218 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0000707 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001392 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001626 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0002033 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0002240 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0003234 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0004887 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0005946 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0011470 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0002194 ORPHA:254864 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000077 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000248 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000252 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000303 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000321 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000322 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000400 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000431 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000541 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000545 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000557 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000558 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000696 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000787 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000851 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0001182 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0001848 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0002076 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0005487 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0005990 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0008007 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0008619 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0010490 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0010804 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0012448 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0020038 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0100807 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000252 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000315 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000486 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000501 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000508 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000518 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000568 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000609 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000612 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000646 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000647 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000766 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0000821 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001100 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001250 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001252 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001263 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001274 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001305 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001321 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001627 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001636 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001671 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0001680 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0002408 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0002616 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0004374 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0005306 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0005344 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0007797 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0009145 ORPHA:42775 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0100028 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0100719 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42775 PHACE syndrome HP:0100761 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0000135 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0000486 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0000518 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001249 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001251 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001252 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001260 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001263 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001321 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001328 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001460 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001618 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0002167 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0002334 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0003198 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0003241 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0003510 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0012400 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0040081 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0045040 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0000639 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0000768 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001156 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0005916 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001167 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001257 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001276 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001385 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0002063 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0002650 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0002673 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0002827 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0003202 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0003552 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0003560 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0004279 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0005743 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0010508 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0010547 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0100660 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0000252 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0000648 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001265 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0001284 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:559 Marinesco-Sjögren syndrome HP:0009830 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0000012 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0000019 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0000093 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0000140 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0000157 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0000464 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0000790 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0000988 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0000989 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0001482 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0001892 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0001945 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0002014 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0002027 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0002721 ORPHA:556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0002729 ORPHA:556 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0011123 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0012735 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0100273 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0100518 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0100577 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0100743 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0100749 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0100787 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0100796 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0200034 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556 Malakoplakia HP:0200042 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000232 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000470 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000687 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0001249 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0001252 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0001763 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0006191 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0007552 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0012811 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0045025 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000233 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000248 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000289 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000316 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000319 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000348 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000358 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000365 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000486 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000490 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000506 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0001212 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0001518 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0001831 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0002650 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0006610 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0007367 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0007605 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0009381 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0009909 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0011341 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0011451 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0100872 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0410263 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000028 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000219 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000272 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000400 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000482 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0000568 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0001344 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0001388 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0002119 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0002308 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0002536 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0009890 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0011344 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487825 Pierpont syndrome HP:0012043 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000768 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001065 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001166 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001519 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001533 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001763 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0002108 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0004970 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0012432 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000275 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000505 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000545 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000678 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000767 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001083 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001132 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001382 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001634 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0002360 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0002650 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0002705 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0003179 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0005059 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0007800 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0012019 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0010668 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0100775 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000023 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000175 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000268 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000278 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000347 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000494 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000501 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000541 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000938 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0000939 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001252 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0001635 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0002097 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0002105 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0002435 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0002636 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0002808 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0002996 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0003202 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0003302 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0003326 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0004326 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0004382 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0004927 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0004933 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0005294 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0006687 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0007018 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0007676 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0007720 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0010807 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:558 Marfan syndrome HP:0012499 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0012732 ORPHA:557 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0000119 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0000143 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0002023 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0002937 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0004397 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0025407 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0030711 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0100590 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0000047 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0000365 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0002144 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0002475 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0003396 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0009790 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:557 Non-syndromic anorectal malformation HP:0012621 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0000980 ORPHA:98375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0001324 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0001635 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0001744 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0001878 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0001881 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0001945 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0002027 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0002094 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0002315 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0002665 ORPHA:98375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0002721 ORPHA:98375 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0002960 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0011675 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0012086 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:98375 Autoimmune hemolytic anemia HP:0012378 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0000083 ORPHA:510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0000708 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0000790 ORPHA:510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0001256 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0001257 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0001903 ORPHA:510 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0001997 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0002149 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0002342 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0004374 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:510 Lesch-Nyhan syndrome HP:0100022 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000252 ORPHA:391641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0001770 ORPHA:391641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0002589 ORPHA:391641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0005819 ORPHA:391641 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000347 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0001328 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0001999 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0002032 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0004209 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0004220 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0004691 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0004692 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0009577 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0009778 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0012745 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000076 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000077 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000083 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000085 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000110 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000123 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000126 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000405 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0000407 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0001627 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0001643 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0002247 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0010446 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0011611 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0011625 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0011662 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0001249 ORPHA:391641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0002023 ORPHA:391641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0004322 ORPHA:391641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:391641 Feingold syndrome type 1 HP:0005235 ORPHA:391641 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0000174 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0000239 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0000248 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0000324 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0000347 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0000592 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0000772 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0000774 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0000912 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0001024 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0001252 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0001373 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0002007 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0002644 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0002645 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0003103 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0004322 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0004331 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0005280 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0005692 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0006487 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0010807 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0011912 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0012368 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2097 Grant syndrome HP:0100729 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003546 ORPHA:254854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003551 ORPHA:254854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003701 ORPHA:254854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0009046 ORPHA:254854 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0002359 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0002460 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0002515 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0002600 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003391 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003547 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003722 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003749 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0007126 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0009020 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0030199 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0000590 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0001260 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0001488 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0002938 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003326 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003327 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003394 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003731 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0002505 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0030192 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0030195 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0000651 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0001252 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0001270 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0002650 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003201 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003652 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254854 Pure mitochondrial myopathy HP:0003691 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000164 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000248 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000294 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000316 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000327 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000405 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000478 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000483 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000492 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000504 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000636 ORPHA:2095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000639 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000647 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000677 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000929 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0005916 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0001256 ORPHA:2095 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0001537 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0001643 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0001760 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0002208 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0002230 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0004322 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0004440 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0008497 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0009882 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0009891 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0010940 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000158 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000232 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000252 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000286 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000303 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000319 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000411 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000414 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000494 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000581 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000733 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0001250 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0001252 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0001274 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0001344 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0001510 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0002020 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0002376 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0002650 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0002808 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0003196 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0003781 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0005280 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0005487 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0009738 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0010804 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0010864 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0011968 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0100540 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0000822 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003236 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003547 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003557 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0008963 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0009027 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0100297 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001315 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001761 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0002355 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003376 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003458 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003687 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003691 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003724 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0009072 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0009129 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0011808 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0030237 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0011675 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0011711 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0030148 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0030664 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0031108 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001249 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001288 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001436 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001626 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001671 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001763 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0002058 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003029 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003307 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003394 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003484 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003555 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0005162 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0005991 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0006251 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0006467 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0006510 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0008800 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0008956 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0009053 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0010505 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0010628 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0007663 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0008619 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0008872 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0012433 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0025013 ORPHA:309256 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0031358 ORPHA:309256 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000020 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000648 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000762 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001250 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001260 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001265 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001290 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001324 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001332 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002066 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002312 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002359 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002376 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002415 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002922 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0003444 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0007133 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0007240 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0030081 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0030051 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000649 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000712 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000738 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000746 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001082 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001257 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002371 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0003270 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0003487 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001939 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0200063 ORPHA:157798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0005227 ORPHA:157798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0100808 ORPHA:157798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0100834 ORPHA:157798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0002861 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0002862 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0003002 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0006725 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0012125 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0012189 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0100008 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0100574 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0100615 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157798 Serrated polyposis syndrome HP:0100728 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000750 ORPHA:364028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001263 ORPHA:364028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000708 ORPHA:364028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001250 ORPHA:364028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001328 ORPHA:364028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001533 ORPHA:364028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002342 ORPHA:364028 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000028 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000054 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000126 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000188 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000189 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000194 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000248 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000256 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000272 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000297 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000303 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000322 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000336 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000400 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000490 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000508 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000675 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000718 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000729 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000742 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000817 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001256 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001257 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001265 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001270 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001320 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001336 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001388 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001763 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002069 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002079 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002133 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002360 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002460 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002650 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002719 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002808 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002816 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0003487 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0004322 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0006863 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0006951 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0006979 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0007021 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0007655 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0008936 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0009909 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0010864 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0012471 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0030236 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000003 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000023 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000085 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000126 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000164 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000307 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000324 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000365 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000369 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000370 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000446 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000486 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000567 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000568 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000612 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000682 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000773 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000776 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000894 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0000963 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001000 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001018 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001083 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001161 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001171 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001482 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001537 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001539 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001540 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001596 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001597 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001629 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001643 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001671 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001770 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0001839 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0002020 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0002027 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0002247 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0002414 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0002650 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0004334 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0004930 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0005930 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0006101 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0006482 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0006554 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0006703 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0007676 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0007957 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0008065 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0008678 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0008839 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0009124 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0009804 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0010783 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0010807 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0011847 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0012733 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0012740 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0045026 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0100490 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0100543 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0100559 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0100560 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0100585 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0100670 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0100790 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2092 Focal dermal hypoplasia HP:0200036 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0000083 ORPHA:254857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0000590 ORPHA:254857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0001638 ORPHA:254857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0004900 ORPHA:254857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0011344 ORPHA:254857 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0001250 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0001254 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0001284 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0002643 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0006583 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0008935 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome HP:0000003 ORPHA:2091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome HP:0001162 ORPHA:2091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome HP:0001199 ORPHA:2091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome HP:0001841 ORPHA:2091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome HP:0005987 ORPHA:2091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0000252 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0000286 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0000369 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0000494 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0000558 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0001249 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0001622 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0002093 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0004322 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0004467 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0005180 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0005280 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2090 GMS syndrome HP:0008872 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0001892 ORPHA:157794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0002573 ORPHA:157794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0012183 ORPHA:157794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0003003 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0005227 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0005505 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0007378 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0012198 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0100896 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0200063 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0002576 ORPHA:157794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0040276 ORPHA:157794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0100743 ORPHA:157794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0002890 ORPHA:157794 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0006771 ORPHA:157794 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0012114 ORPHA:157794 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0012125 ORPHA:157794 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:157794 Hereditary mixed polyposis syndrome HP:0100245 ORPHA:157794 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0001873 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0001945 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002017 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002027 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002039 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002152 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002315 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002615 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002829 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0003326 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0008150 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0030953 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0000952 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0000988 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0001287 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0001919 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002011 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002014 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002098 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002105 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002202 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002240 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0002716 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0011705 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0012115 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0012735 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0025143 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0025439 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0031197 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0040223 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0000554 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0000573 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0001085 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0001701 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0003201 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0011675 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0011896 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0012424 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0030497 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:509 Leptospirosis HP:0100653 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000855 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000962 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000998 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0003162 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0003758 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0008846 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0008897 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0011998 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000040 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000065 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000105 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000842 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000956 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0001249 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0001508 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0001639 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0002219 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0002240 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0003202 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0003247 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0003270 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0004325 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0004405 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0004914 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0008665 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0011344 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000121 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000252 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000307 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000316 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000369 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000411 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000445 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000848 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000859 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0000974 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0001072 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0001176 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0001833 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0002035 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0002150 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0002900 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0008936 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0011787 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0012471 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0025024 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:508 Leprechaunism HP:0100879 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001156 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001162 ORPHA:2098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001387 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001522 ORPHA:2098 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001773 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001831 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0002652 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0002983 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0003038 ORPHA:2098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0005048 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0005736 ORPHA:2098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0005914 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0006487 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0008368 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0008873 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0009601 ORPHA:2098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0100242 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0100387 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0000989 ORPHA:505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0001596 ORPHA:505 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0002209 ORPHA:505 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0002215 ORPHA:505 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0002225 ORPHA:505 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0007468 ORPHA:505 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0100725 ORPHA:505 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0000163 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0001744 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0001876 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0001892 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0001954 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0002240 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0002716 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0004311 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0011830 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0012384 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0030166 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0200034 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0200035 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0200042 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0000980 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0001824 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0001903 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0002829 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0002910 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0003073 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0010702 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0001873 ORPHA:507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0001882 ORPHA:507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0002039 ORPHA:507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:507 Leishmaniasis HP:0012378 ORPHA:507 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001321 ORPHA:314603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001347 ORPHA:314603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002497 ORPHA:314603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0000012 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0000666 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001256 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001257 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001310 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001332 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002066 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002073 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002120 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002352 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002464 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002650 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0008619 ORPHA:314603 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002151 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002490 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0003128 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0003648 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0008947 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0012379 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0100022 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000407 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000587 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000602 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000648 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000998 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001508 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001510 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001639 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002171 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002344 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002376 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002415 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002493 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002928 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0004305 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0006943 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0007183 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0008336 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0008972 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0011923 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0011968 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0012696 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0012707 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0012747 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0012748 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0012751 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001263 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0031691 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0100321 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0410263 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000508 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000639 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000924 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001250 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001251 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001257 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001264 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001266 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001274 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001324 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001332 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001399 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001635 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001903 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001943 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001993 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002015 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002071 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002072 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002079 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002305 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002460 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002487 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002521 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002542 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002793 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002828 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002878 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002909 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0003198 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0003202 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0003219 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0003348 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0003390 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0003535 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0008347 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0009830 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0011924 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0012120 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0200147 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0410145 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000100 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000124 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000348 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000400 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000518 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0000964 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001272 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001511 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001596 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001629 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001875 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001947 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0001999 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002133 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0002579 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0008314 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0011335 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0012469 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0040197 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:506 Leigh syndrome HP:0100660 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0100318 ORPHA:501 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0001250 ORPHA:501 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0000712 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0000716 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0000726 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0001251 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0001257 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0001260 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0001268 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0001288 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0001289 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0001312 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002100 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002123 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002133 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002315 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002367 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002521 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002540 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0025357 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0040288 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0001336 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0001399 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002069 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002121 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002360 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0002384 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0007270 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0007334 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0007359 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0007537 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0010819 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0012444 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0011165 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:501 Lafora disease HP:0031358 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000028 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000047 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000078 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000144 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000248 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000271 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000316 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000325 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000368 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000407 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000431 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000465 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000508 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000767 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000768 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000912 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000974 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0000995 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001003 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001256 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001263 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001480 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001482 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001510 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001511 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001608 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001633 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001634 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001639 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001641 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001642 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0001658 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0030680 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0002617 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0002650 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0002861 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0002863 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0003006 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0003298 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0003691 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0004306 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0004322 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0004414 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0006695 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0007392 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0008625 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0010318 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0011675 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0011710 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:500 Noonan syndrome with multiple lentigines HP:0100542 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0000028 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0000175 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0000272 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0000316 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0000405 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0001156 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0001249 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0001363 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0001626 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0001799 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0002093 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0002650 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0003319 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0003422 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0004232 ORPHA:503 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0004322 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0005008 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0005280 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0005692 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0005930 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0006101 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0008755 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0009836 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0009882 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0011220 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0011304 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:503 Larsen syndrome HP:0012368 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000010 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000076 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000164 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000174 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000219 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000252 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000343 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000368 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000405 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000411 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000414 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000431 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000574 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001156 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001249 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001252 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001373 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001385 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001510 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001582 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001883 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002002 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002119 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002209 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0030680 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002653 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002750 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002857 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0004322 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0005039 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0005692 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0005743 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0007598 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0009118 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0009928 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0010230 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0011069 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0100777 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0000315 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0000620 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0001733 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0001880 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0002716 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0003212 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0003493 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0007734 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0010824 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0011227 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0011482 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0012393 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0031281 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0032300 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0100539 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:3000061 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0000077 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0000246 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0000492 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0000496 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0000587 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0002088 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0005200 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0008049 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0009831 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0030669 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0100540 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:3000030 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0000024 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0000491 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0000579 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0002665 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0003003 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0011747 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0012539 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0030151 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0031912 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0100526 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0100646 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0100661 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0100796 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:449563 IgG4-related ophthalmic disease HP:0430022 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0000572 ORPHA:2086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0000639 ORPHA:2086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0000648 ORPHA:2086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0001067 ORPHA:2086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0007663 ORPHA:2086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0000238 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0000486 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0000520 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0000602 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0000618 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0000707 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0000826 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0001085 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0001123 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0001250 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0001263 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0001510 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0002013 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0002018 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0002315 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0002321 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0002376 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2086 Optic pathway glioma HP:0003473 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2085 Glaucoma-sleep apnea syndrome HP:0000501 ORPHA:2085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2085 Glaucoma-sleep apnea syndrome HP:0002093 ORPHA:2085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2085 Glaucoma-sleep apnea syndrome HP:0010535 ORPHA:2085 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0001249 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0001270 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0002465 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0003236 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0008981 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0008994 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0100614 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0003202 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0003698 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0005912 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0007018 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0009046 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0011892 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome HP:0000501 ORPHA:2084 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome HP:0001083 ORPHA:2084 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome HP:0004322 ORPHA:2084 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0001332 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0001347 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002059 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002180 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002267 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002376 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002478 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0004322 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0007256 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0009062 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0010780 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0100543 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0100852 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0000719 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0000739 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0001250 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002072 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002371 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002476 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0008897 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0010729 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0012547 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0030904 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002200 ORPHA:309246 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:309246 GM2 gangliosidosis, AB variant HP:0030081 ORPHA:309246 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000028 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000046 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000126 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000252 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000268 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000347 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000358 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000396 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000400 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000426 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000430 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000470 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000474 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001156 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001250 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001263 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001276 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001510 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001511 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001608 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0002057 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0002119 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0002553 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0003196 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0006610 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0007598 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0008736 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0010720 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0012745 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0100490 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0100543 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000218 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000252 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000319 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000343 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000347 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000368 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000648 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000750 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000768 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000954 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001007 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001162 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001187 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001249 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001263 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001283 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001332 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001508 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001830 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001838 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001999 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002063 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002071 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002079 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002093 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002104 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002119 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002267 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002352 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002478 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002509 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002521 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002536 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002808 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0003196 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0005781 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0007514 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0008278 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0010804 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001252 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0011968 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0012098 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0012448 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0012762 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0031162 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0100807 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000407 ORPHA:521426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000639 ORPHA:521426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000975 ORPHA:521426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001250 ORPHA:521426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002483 ORPHA:521426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0000737 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0001946 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0002919 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0003076 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0011998 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0012734 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0001250 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0001254 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0001263 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0001508 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0002910 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0003077 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0004322 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0011024 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0001508 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0001947 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0002148 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0003109 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0004919 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0006568 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0040270 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0500030 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0001510 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0001942 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0002150 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0002240 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0002748 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0003076 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0003162 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0003270 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0011998 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0000112 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0000121 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0000819 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0000938 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0001399 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0002155 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0002909 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0003155 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0006487 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0020110 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0031956 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0031964 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0000295 ORPHA:2088 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2088 Fanconi-Bickel syndrome HP:0001402 ORPHA:2088 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001263 ORPHA:542306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001626 ORPHA:542306 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000512 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000639 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000750 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001250 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001252 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001344 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001662 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0002020 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0005155 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0010864 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0011675 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0011704 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000546 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000563 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000817 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001655 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0002421 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0002521 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0007010 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0012248 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0003468 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0003508 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0005280 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0008064 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0008404 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0030055 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0001903 ORPHA:99688 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0003355 ORPHA:99688 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0003196 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0000400 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0000581 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0000966 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0001249 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0001250 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0002007 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0002251 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99688 Dermotrichic syndrome HP:0002353 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0000252 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0000924 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0001249 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0005819 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0012758 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0001156 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0001770 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0001999 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0004322 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0005235 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0009778 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0000708 ORPHA:391646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0000739 ORPHA:391646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0000712 ORPHA:391646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:391646 Feingold syndrome type 2 HP:0001629 ORPHA:391646 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0000988 ORPHA:448237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0040186 ORPHA:448237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0000509 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0000989 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0001369 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0001945 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0002315 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0002829 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0002921 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0003326 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0003496 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0000969 ORPHA:448237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0001225 ORPHA:448237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0001785 ORPHA:448237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0002013 ORPHA:448237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0012779 ORPHA:448237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0000252 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0000533 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0000612 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0001132 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0001287 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0001511 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0001873 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0001933 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0002383 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0005268 ORPHA:448237 TAS HP:0040284 C ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0006906 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0007131 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0007401 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0007766 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0007814 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0012486 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0012795 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:448237 Zika virus disease HP:0030825 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0000168 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0000171 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0000179 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0000199 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0000218 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0000962 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0001061 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0001072 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0001250 ORPHA:530 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0001332 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0001482 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0001609 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0002015 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0002205 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0002514 ORPHA:530 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0008066 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0011830 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0100582 ORPHA:530 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0100699 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0200034 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0200039 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0200043 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:530 Lipoid proteinosis HP:0002293 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002073 ORPHA:284324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0000641 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0000651 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0000657 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0000666 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001152 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001260 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001272 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001310 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001347 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002070 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002136 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002168 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002312 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002355 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002495 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0003487 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0007240 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002174 ORPHA:284324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0003445 ORPHA:284324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001250 ORPHA:284324 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0000112 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0000177 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0000286 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0000348 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0000463 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0000960 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0001250 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0001251 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0001339 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0001510 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0001539 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0001561 ORPHA:531 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0001626 ORPHA:531 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0002079 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0002120 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0002353 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0003196 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:531 Miller-Dieker syndrome HP:0004209 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000857 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0001274 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0001360 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0001511 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0001518 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0011467 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0012443 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0030795 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0031209 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0100801 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0410289 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000218 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000269 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000340 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000369 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000377 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000601 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0002507 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0006315 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0009658 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0010669 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0010938 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0012418 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000003 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000028 ORPHA:2075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000037 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000047 ORPHA:2075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000175 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000238 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000252 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000316 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000347 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000369 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000431 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000494 ORPHA:2075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0000776 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0001156 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0001162 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0001511 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0001671 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0030680 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0002650 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0002714 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0002808 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0005264 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0008668 ORPHA:2075 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0100016 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2075 Genitopalatocardiac syndrome HP:0100335 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000160 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000218 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000232 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000286 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000316 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000337 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000340 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000343 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000347 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000368 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000490 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000581 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0000995 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0001256 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0001629 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0001643 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0001770 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0001863 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0002002 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0002263 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0002553 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0003196 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0005280 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0005338 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261120 14q11.2 microdeletion syndrome HP:0011344 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0000035 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0000407 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0000823 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0001053 ORPHA:2074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0001249 ORPHA:2074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0001251 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0001347 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0003202 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0003457 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0004322 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0004374 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0007328 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2074 Gemignani syndrome HP:0008736 ORPHA:2074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0000478 ORPHA:2073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0000504 ORPHA:2073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0000738 ORPHA:2073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0001279 ORPHA:2073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0001350 ORPHA:2073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0001513 ORPHA:2073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0001262 ORPHA:2073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0002360 ORPHA:2073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0002494 ORPHA:2073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0002524 ORPHA:2073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2073 Narcolepsy type 1 HP:0010534 ORPHA:2073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001433 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001873 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0004380 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0004382 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0004963 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0007957 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000238 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000407 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000486 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000496 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000602 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000657 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001249 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001258 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001265 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001347 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001510 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001744 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001761 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001822 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001876 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001903 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002079 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002119 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002206 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0004406 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0025190 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000027 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000248 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000508 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000570 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000605 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000767 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000823 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000974 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001058 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001081 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001085 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001270 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001276 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001395 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001743 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002040 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002070 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002092 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002123 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002136 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002315 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002592 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002619 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002650 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0003470 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0004326 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0005619 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0006530 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0006689 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0010543 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0011968 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0012389 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0025160 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0025404 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0031364 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0200042 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0001880 ORPHA:2070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0001903 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0001974 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0002013 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0002014 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0002015 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0002024 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0002027 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0002570 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0003073 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0003193 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0011024 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0011227 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0000969 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0001047 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0001541 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0001824 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0002099 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0002243 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0002573 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2070 Eosinophilic gastroenteritis HP:0003565 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002352 ORPHA:542310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002514 ORPHA:542310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0010576 ORPHA:542310 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0000712 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001250 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001251 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001268 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001332 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002135 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002461 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0007229 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0007256 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0007346 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0100320 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0100543 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001257 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001260 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001263 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001288 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001297 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001337 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001342 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002516 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0007291 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0011153 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0000725 ORPHA:542310 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002059 ORPHA:542310 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002589 ORPHA:436252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0004430 ORPHA:436252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0010766 ORPHA:436252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0011100 ORPHA:436252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001511 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001561 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002223 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002721 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0003270 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0005229 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0008070 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0025085 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0000778 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001072 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002293 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002566 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002722 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0005224 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0100592 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0100889 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0000872 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001539 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001629 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001890 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002960 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0003765 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0008404 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0010959 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0012115 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0100651 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0000272 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0000303 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0000478 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0000482 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0000504 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0000768 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0000926 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0000939 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0000963 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0000974 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0001252 ORPHA:2078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0001256 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0001263 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0001510 ORPHA:2078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0001582 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0001763 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0001883 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0002650 ORPHA:2078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0002757 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0002827 ORPHA:2078 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0002953 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0003312 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0003510 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0004568 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0004586 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0005692 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0005930 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0007495 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0011849 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2078 Geroderma osteodysplastica HP:0100790 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000028 ORPHA:2077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000062 ORPHA:2077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000194 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000202 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000218 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000232 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000248 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000268 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000347 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000348 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000364 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000431 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000470 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000486 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000494 ORPHA:2077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000534 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0000664 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0001004 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0001249 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0001252 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0001263 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0001376 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0001636 ORPHA:2077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0001671 ORPHA:2077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0002015 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0002167 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0002375 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0002804 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0004322 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0005280 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0011800 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2077 German syndrome HP:0100490 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0000508 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0000577 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001260 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001270 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001284 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001349 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001763 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0002151 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0002166 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0002312 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0002359 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0002380 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0003376 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0003444 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0007178 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0007340 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0009027 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0009055 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0010836 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001638 ORPHA:521411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0040081 ORPHA:521411 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:526 Liddle syndrome HP:0000083 ORPHA:526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:526 Liddle syndrome HP:0000112 ORPHA:526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:526 Liddle syndrome HP:0000822 ORPHA:526 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:526 Liddle syndrome HP:0001324 ORPHA:526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:526 Liddle syndrome HP:0002019 ORPHA:526 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:526 Liddle syndrome HP:0002637 ORPHA:526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:526 Liddle syndrome HP:0002900 ORPHA:526 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:526 Liddle syndrome HP:0011675 ORPHA:526 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:526 Liddle syndrome HP:0012378 ORPHA:526 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529 Roch-Leri mesosomatous lipomatosis HP:0001482 ORPHA:529 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:529 Roch-Leri mesosomatous lipomatosis HP:0001012 ORPHA:529 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:529 Roch-Leri mesosomatous lipomatosis HP:0000979 ORPHA:529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:529 Roch-Leri mesosomatous lipomatosis HP:0001873 ORPHA:529 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000855 ORPHA:528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0002240 ORPHA:528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0003712 ORPHA:528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0008887 ORPHA:528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0009125 ORPHA:528 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000819 ORPHA:528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000998 ORPHA:528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001249 ORPHA:528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0002155 ORPHA:528 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000158 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000294 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000303 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000336 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000842 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000956 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001015 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001176 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001263 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001394 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001397 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001508 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001635 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001639 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001833 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001999 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0002162 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0003124 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0003247 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0005616 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0008665 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0011407 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0012062 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0001263 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0030796 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000141 ORPHA:528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000147 ORPHA:528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0000876 ORPHA:528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:528 Congenital generalized lipodystrophy HP:0010465 ORPHA:528 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0000131 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0000518 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0000989 ORPHA:523 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0002891 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0003011 ORPHA:523 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0006732 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0007437 ORPHA:523 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0007620 ORPHA:523 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0100580 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0100650 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0100751 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0000962 ORPHA:525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0000989 ORPHA:525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0001053 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0001059 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0001231 ORPHA:525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0001596 ORPHA:525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0001806 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0002242 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0004334 ORPHA:525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0008066 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0012115 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0100649 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0100725 ORPHA:525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0200034 ORPHA:525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:525 Lichen planopilaris HP:0200042 ORPHA:525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0002664 ORPHA:524 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0003002 ORPHA:524 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0001909 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0002665 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0002669 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0002859 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0002888 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0006744 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0007378 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0009592 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0012126 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0012174 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0030070 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0030392 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0100006 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0200063 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0002861 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0002863 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0002885 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0002890 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0002894 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0003003 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0004808 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0006721 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0009726 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0010788 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0012125 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0012189 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0012288 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0012539 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0100526 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0100605 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0100615 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0100743 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:524 Li-Fraumeni syndrome HP:0100768 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000023 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000047 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000126 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000175 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000202 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000235 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000238 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000256 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000269 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000316 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000329 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000347 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000369 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000384 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000431 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000470 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000494 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000501 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000567 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000612 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000648 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000835 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0000921 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001156 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001161 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001195 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001249 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001252 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001263 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001305 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001522 ORPHA:7 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001629 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001631 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001633 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001636 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001642 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001650 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001702 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0001804 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002007 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002020 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002023 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002119 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002167 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002205 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002269 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002566 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002650 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002705 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002808 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0002937 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0003196 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0003272 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0004322 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0004383 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0004397 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0005280 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0006101 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0006695 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0006709 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0007360 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0008736 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0008872 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:7 3C syndrome HP:0008897 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0001945 ORPHA:31205 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0000988 ORPHA:31205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0001369 ORPHA:31205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0002013 ORPHA:31205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0002829 ORPHA:31205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0012282 ORPHA:31205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0001824 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0002014 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0002315 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0002374 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0002840 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0003095 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0003326 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0003418 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0012219 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0025143 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0025145 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0025439 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0040186 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0040189 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0040313 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0100806 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0200039 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0001287 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0001701 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0001733 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0001903 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0011850 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0012819 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0025181 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0025230 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31205 Rat-bite fever HP:0100584 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000027 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000028 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000047 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000053 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000054 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000098 ORPHA:8 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000238 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000256 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000272 ORPHA:8 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000316 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000369 ORPHA:8 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000708 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000729 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000735 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000750 ORPHA:8 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000752 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000798 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0000837 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0001249 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0001250 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0001270 ORPHA:8 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0001319 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0001328 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0002099 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0002195 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0002363 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0003251 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0007018 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0007033 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0007642 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0030088 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0012871 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0040019 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:8 47,XYY syndrome HP:0100710 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0005547 ORPHA:521 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0001744 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0001871 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0001873 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0001894 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0001911 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0001912 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0001945 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0001974 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0004396 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521 Chronic myeloid leukemia HP:0012378 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000613 ORPHA:5 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001943 ORPHA:5 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001985 ORPHA:5 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000512 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000572 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000577 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001252 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001263 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001639 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001939 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0002240 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0009830 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000488 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000532 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000533 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000545 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000662 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001249 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001250 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001290 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001508 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0002611 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0007703 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0011968 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0030856 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001252 ORPHA:6 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001257 ORPHA:6 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001531 ORPHA:6 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001943 ORPHA:6 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001987 ORPHA:6 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001992 ORPHA:6 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0002093 ORPHA:6 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0004357 ORPHA:6 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0100022 ORPHA:6 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0100659 ORPHA:6 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0000225 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0000421 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0000967 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0000978 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0000979 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0001324 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0001824 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0001873 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0001876 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0001882 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0001892 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0001903 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0001945 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0002039 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0002321 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0002875 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0005521 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0012378 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0031020 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0031035 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0031364 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0000212 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0001875 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0001974 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0002027 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0002653 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0002716 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0010280 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0011900 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0025420 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0030140 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0030955 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0031245 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0000790 ORPHA:520 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0100608 ORPHA:520 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:520 Acute promyelocytic leukemia HP:0100758 ORPHA:520 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0001649 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0001945 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0001974 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0002090 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0002315 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0002829 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0003326 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0010702 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0025143 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0025406 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0000155 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0000988 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0001873 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0001903 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0002098 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0002113 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0002202 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0002716 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0011355 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0012735 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0025289 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0025439 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0030833 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0031983 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0000388 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0000509 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0000707 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0000708 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0001287 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0001289 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0012219 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0030049 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0030953 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0031292 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0100533 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0100721 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:0200026 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3392 Tularemia HP:3000033 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000028 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000047 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000062 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000074 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000160 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000164 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000175 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000218 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000243 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000248 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000252 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000272 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000286 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000316 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000343 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000347 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000369 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000413 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000453 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000463 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000465 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000470 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000486 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000494 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000568 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000574 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000581 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000582 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000639 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000664 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000772 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000776 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0000925 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001162 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001249 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001250 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001252 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001263 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001274 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001276 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001362 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001376 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001816 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0001850 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0002162 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0002553 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0030680 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0002650 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0003196 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0005280 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0006610 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0007477 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0007598 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0008551 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0009623 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0009738 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0009892 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261112 Monosomy 9p HP:0100790 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000028 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000062 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000215 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000218 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000252 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000286 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000347 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000400 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000431 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001249 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001252 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001263 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001276 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0002060 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0002079 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0002365 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0002380 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0002500 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0003202 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0006955 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0030197 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000054 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000133 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000151 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000582 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000639 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000648 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001250 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001257 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001336 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001347 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0004305 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0005280 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0008665 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0012856 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0030260 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0030261 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0001945 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0002090 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0011947 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0011949 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0025044 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0031273 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0031864 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0100806 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0001743 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0002758 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0003095 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0012115 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0025059 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0030049 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0031292 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0032162 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0100523 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0100658 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0000024 ORPHA:31202 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0000119 ORPHA:31202 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0000197 ORPHA:31202 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0001886 ORPHA:31202 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31202 Melioidosis HP:0011850 ORPHA:31202 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0000164 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0000286 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0000316 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0000486 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0000582 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0001156 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0001252 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0001263 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0001328 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0001385 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0030680 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0002974 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0004209 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0005692 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0010978 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0100543 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:9 Tetrasomy X HP:0008209 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0001945 ORPHA:31204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002090 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002094 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002721 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0012378 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0031245 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0031864 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0032016 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0100749 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0000509 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0000620 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0001482 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0001701 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0001824 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002013 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002039 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002097 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002098 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002102 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002105 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002107 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002202 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002315 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002754 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002840 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002878 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0004372 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0011450 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0025143 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0030049 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0030166 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0031246 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0031292 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0032169 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0100523 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0100806 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0200026 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0000491 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0000575 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0000834 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0001250 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0001287 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0001654 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002383 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0002586 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0004302 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0012424 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0045026 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0100532 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0100584 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0100646 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:31204 Nocardiosis HP:0100658 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0000508 ORPHA:2064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0000960 ORPHA:2064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0001387 ORPHA:2064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0003312 ORPHA:2064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0005626 ORPHA:2064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0008368 ORPHA:2064 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000023 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000028 ORPHA:2063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000174 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000189 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000347 ORPHA:2063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000358 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000776 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000951 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0001250 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0001357 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0001385 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0001622 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002023 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002101 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002269 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0030680 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002815 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002817 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002823 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002991 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0003019 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0006283 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0006333 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0006703 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0009804 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0100543 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0100559 ORPHA:2063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0100560 ORPHA:2063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000098 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000154 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000233 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000248 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000311 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000316 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000322 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000347 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000431 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000494 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000925 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0001072 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0001176 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0001387 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0001999 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0002011 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0002650 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0002653 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0002808 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0002937 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0003306 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0003363 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0005037 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0005108 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0005280 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0012368 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0100777 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002073 ORPHA:284332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0000750 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001257 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001260 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001263 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001272 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001290 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001310 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001347 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001763 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002136 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002312 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002355 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0003487 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0004322 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0006855 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0007240 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002080 ORPHA:284332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000430 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000510 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000529 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001118 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001263 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001999 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0002342 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0004322 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0007675 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000272 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000347 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000369 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000470 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000582 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000689 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000699 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001133 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001156 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001328 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0002311 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0007010 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0007791 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0007965 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0009907 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0010761 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000400 ORPHA:436245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000494 ORPHA:436245 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0000316 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0000486 ORPHA:2069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0000545 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0000582 ORPHA:2069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0000664 ORPHA:2069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0000995 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0001003 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0001677 ORPHA:2069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0002036 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0004398 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0005280 ORPHA:2069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0005978 ORPHA:2069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2069 Gastrocutaneous syndrome HP:0007565 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0001945 ORPHA:542323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0011112 ORPHA:542323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0011117 ORPHA:542323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0012378 ORPHA:542323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0012649 ORPHA:542323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0001649 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002615 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0003326 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0004396 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0030356 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0030783 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0001289 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002013 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002014 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002018 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002202 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002789 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002904 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002910 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0003259 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0011037 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0011675 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0012418 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0012664 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0012722 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0030005 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0100598 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0000988 ORPHA:542323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0001919 ORPHA:542323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002878 ORPHA:542323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0005521 ORPHA:542323 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000232 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000316 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000337 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000343 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000347 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000348 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000369 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000463 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0045075 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000653 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000684 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000974 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0001596 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0002007 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0002234 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0002750 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0004322 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0005280 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0005692 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0007495 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0009891 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0009928 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0011800 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0100540 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000174 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000303 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000501 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000505 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000563 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000765 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000889 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000944 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0001537 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0002644 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0003312 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0010609 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0100659 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000135 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000141 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000365 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000453 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000545 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000639 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000648 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000787 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0000798 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0001028 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0001053 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0001510 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0001555 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0002516 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0002621 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0004331 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2067 GAPO syndrome HP:0100607 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0000093 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0000100 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0000112 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0000164 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0000252 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0000316 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0000347 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0000400 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0000601 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0001181 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0001250 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0001252 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0001263 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0001276 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0001302 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0001511 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0001622 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0002036 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0002269 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0002353 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0002410 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0004322 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0004374 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0005108 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0010978 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0100490 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0100543 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2065 Galloway-Mowat syndrome HP:0100720 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:517 Acute myelomonocytic leukemia HP:0001873 ORPHA:517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:517 Acute myelomonocytic leukemia HP:0001903 ORPHA:517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:517 Acute myelomonocytic leukemia HP:0001974 ORPHA:517 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:517 Acute myelomonocytic leukemia HP:0000980 ORPHA:517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:517 Acute myelomonocytic leukemia HP:0001824 ORPHA:517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:517 Acute myelomonocytic leukemia HP:0001892 ORPHA:517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:517 Acute myelomonocytic leukemia HP:0002094 ORPHA:517 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:517 Acute myelomonocytic leukemia HP:0000168 ORPHA:517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:517 Acute myelomonocytic leukemia HP:0001880 ORPHA:517 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0002607 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0009763 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0011471 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0011968 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0012531 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0030858 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0031064 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0030051 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0100753 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0002246 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0002576 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0002577 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0012437 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0025013 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0100575 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0006970 ORPHA:512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0012379 ORPHA:512 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0000365 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0000505 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0000649 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0000762 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0001250 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0001251 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0001265 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0001288 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0001324 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0002191 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0002359 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0002376 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0002922 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0003394 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0008947 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0009830 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0030890 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0000020 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0000708 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0000709 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0000712 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0000726 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0000751 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0001260 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0001332 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0001337 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0002311 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:512 Metachromatic leukodystrophy HP:0100762 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0000600 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0001249 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0001250 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0001251 ORPHA:511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0001252 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0001263 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0001315 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0001608 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0002093 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0004374 ORPHA:511 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:511 Maple syrup urine disease HP:0008344 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0000253 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0000338 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001249 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001257 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001263 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001272 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001300 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001332 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001337 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001347 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002059 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002067 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002376 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002465 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002483 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002505 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002650 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002828 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0003487 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0009062 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0011448 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0012048 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0012407 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0030890 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0032097 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0100660 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0004845 ORPHA:514 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001903 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001974 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0002875 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0012378 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0031020 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0100827 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001482 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001730 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001785 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001824 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001931 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001945 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0002039 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0011787 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0012145 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0025289 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0025435 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0100520 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:514 Acute monoblastic/monocytic leukemia HP:0100539 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000028 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000238 ORPHA:261102 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000729 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000739 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000750 ORPHA:261102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000776 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0001252 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0001256 ORPHA:261102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0001643 ORPHA:261102 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0004942 ORPHA:261102 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0002308 ORPHA:261102 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0007018 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0007330 ORPHA:261102 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0100835 ORPHA:261102 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0000099 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0000218 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0000303 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0001166 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0001388 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0001519 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0002119 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0002342 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0002942 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0011451 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0012622 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0000763 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0000835 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0000963 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0000974 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0000978 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0001252 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0001297 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0001324 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0001382 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0001634 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0002239 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0002829 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0003202 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0003298 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0003326 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0003701 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0004416 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0005692 ORPHA:230839 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0009830 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0011675 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0012378 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0000618 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0001263 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0001511 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0002120 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0008610 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0008897 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0010994 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0000601 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0001250 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0001254 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0001264 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0001287 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0002179 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0006698 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0007023 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0009145 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0010652 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0011328 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0025040 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0025099 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0025258 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0025517 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0410279 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:3000062 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0000533 ORPHA:2177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0000609 ORPHA:2177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0002119 ORPHA:2177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0011451 ORPHA:2177 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0000504 ORPHA:2177 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0001265 ORPHA:2177 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2177 Hydranencephaly HP:0010653 ORPHA:2177 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0000147 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0000212 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0000256 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0000280 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0000470 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0000834 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0000938 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0000939 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0000953 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0001004 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0001025 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0001072 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0001156 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0001252 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0001387 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0001482 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0001508 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0001510 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0002024 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0002028 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0002570 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0002659 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0002718 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0002721 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0002749 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0002757 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0002983 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0003011 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0003510 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0004279 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0006482 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0010515 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0011024 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0011968 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0100490 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0100585 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2176 Infantile systemic hyalinosis HP:0200042 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001249 ORPHA:468678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001263 ORPHA:468678 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000252 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000316 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000505 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000540 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000729 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000750 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000752 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001256 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001513 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001999 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002360 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0004322 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0006863 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0008872 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0008947 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0011024 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0011968 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000160 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000194 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000219 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000248 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000307 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000356 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000407 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000483 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000486 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000510 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000545 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000718 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000733 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001250 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001344 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002020 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002353 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0010864 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0011800 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0012450 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000023 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000081 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000218 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000272 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000297 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000322 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000358 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000455 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000470 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000612 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000618 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000648 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000722 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0000776 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001045 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001272 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001388 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0001627 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002079 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002120 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002188 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002280 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002311 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002373 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002384 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002714 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002870 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0002933 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0005280 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0012110 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0012157 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0012448 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468678 White-Sutton syndrome HP:0100716 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0003477 ORPHA:468661 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0007020 ORPHA:468661 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0000505 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0001123 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0001761 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0002355 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0003445 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0003693 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0007067 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0007083 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0008314 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0009053 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0009072 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0011923 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0000648 ORPHA:468661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0003487 ORPHA:468661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0001272 ORPHA:468661 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0002079 ORPHA:468661 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0012762 ORPHA:468661 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000248 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000252 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000286 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000324 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000486 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000582 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000601 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0001156 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0001252 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0001357 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0001360 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0001363 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0002673 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0002750 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0004209 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0004322 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0007703 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0008479 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0009882 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0012745 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0100543 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000028 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000079 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000093 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000161 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000238 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000252 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000256 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000286 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000289 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000316 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000400 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000437 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000453 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000457 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000458 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000463 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000470 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000488 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000490 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000508 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000528 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000567 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000568 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000574 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000581 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000582 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000601 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000612 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000648 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000664 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000776 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000819 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000830 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000871 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000873 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0000929 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001156 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001161 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001250 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001252 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001257 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001263 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001305 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001324 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001332 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001360 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001531 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001539 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001629 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001636 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001641 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001679 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001743 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001883 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001943 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0001999 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002002 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002007 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002019 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002020 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002072 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002084 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002093 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002269 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002553 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002650 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0002902 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0003312 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0004409 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0005469 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0005692 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0006315 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0006703 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0007360 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0007370 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0008501 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0008572 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0008736 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0008872 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0009738 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0009794 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0009804 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0009914 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0009924 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0010301 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0010302 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0010669 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0011100 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0011675 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0012639 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0100336 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0100543 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2162 Holoprosencephaly HP:0100596 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000974 ORPHA:230851 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001382 ORPHA:230851 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001653 ORPHA:230851 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001654 ORPHA:230851 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000023 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000486 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000508 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000545 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000678 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000767 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000963 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000978 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001027 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001058 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001075 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001373 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001659 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001763 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001822 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002616 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002816 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002857 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0005180 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0006109 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0006201 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0100807 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000218 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000414 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000574 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001250 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001263 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001519 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001631 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001634 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001712 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001848 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001852 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002094 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002342 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002751 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002944 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0004322 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0010444 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0012378 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0012717 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0031610 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0100550 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0500041 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0009830 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0012448 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0012704 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0030084 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0100820 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001263 ORPHA:2169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001980 ORPHA:2169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002160 ORPHA:2169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000252 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000478 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001249 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001250 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001252 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001508 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001511 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001972 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002013 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002167 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002329 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002500 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0003658 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0005518 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0007185 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0008897 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0011344 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0011968 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0012444 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0100022 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000238 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000365 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000505 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000639 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000708 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000822 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000924 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000939 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001159 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001254 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001392 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001626 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001875 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001876 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001907 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002119 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001262 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002365 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002625 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002650 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0005575 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2169 Methylcobalamin deficiency type cblE HP:0006895 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0000175 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0000262 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0000368 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0000400 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0000465 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0000772 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0001161 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0005916 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0001195 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0001387 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0001511 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0001562 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0030680 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0040071 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0006703 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0007370 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0008678 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0010295 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0010297 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0100016 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2167 Holzgreve syndrome HP:0100569 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000028 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000047 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000062 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000160 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000175 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000202 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000238 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000252 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000347 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000368 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000568 ORPHA:2166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000601 ORPHA:2166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000835 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000864 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001162 ORPHA:2166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001252 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001321 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001360 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001537 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001539 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001561 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001671 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001883 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0002023 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0002084 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0002101 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0030680 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0002566 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0005990 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0007370 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0008678 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0008736 ORPHA:2166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0009914 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0010650 ORPHA:2166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0100542 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0100596 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000078 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000083 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000161 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000175 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000252 ORPHA:2165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000316 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000369 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000520 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000924 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0001360 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0001622 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0002818 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0004059 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0009914 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0010662 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0100659 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411777 Generalized eruptive keratoacanthoma HP:0000656 ORPHA:411777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411777 Generalized eruptive keratoacanthoma HP:0000989 ORPHA:411777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411777 Generalized eruptive keratoacanthoma HP:0200034 ORPHA:411777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411777 Generalized eruptive keratoacanthoma HP:0000481 ORPHA:411777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411777 Generalized eruptive keratoacanthoma HP:0000509 ORPHA:411777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411777 Generalized eruptive keratoacanthoma HP:0001097 ORPHA:411777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411777 Generalized eruptive keratoacanthoma HP:0001609 ORPHA:411777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411777 Generalized eruptive keratoacanthoma HP:0002015 ORPHA:411777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001511 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002134 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002310 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0003273 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0003548 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0003554 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0003803 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0006466 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0006895 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0011471 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0011968 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0040204 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002151 ORPHA:319514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0200125 ORPHA:319514 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000407 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000639 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001266 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001290 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001324 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002421 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002451 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002490 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0007069 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0008936 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0010994 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0012448 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000496 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000519 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000762 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000763 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001273 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001344 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001508 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001252 ORPHA:536545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001382 ORPHA:536545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0002751 ORPHA:536545 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000286 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000369 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000494 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000664 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000974 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000978 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000987 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001027 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001030 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001319 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0002194 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0008453 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000023 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000218 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000365 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000407 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000482 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000545 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000592 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000767 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000938 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000963 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001058 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001155 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001166 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001324 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001328 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001342 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001374 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001519 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001537 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001558 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001760 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001762 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001763 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0002355 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0002827 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0003202 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0003834 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0007023 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0007502 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0010727 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0011968 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0025019 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000015 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000276 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000347 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000405 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000422 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000601 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000768 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000939 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001647 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001651 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0002650 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0003198 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0003467 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0003994 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0004322 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0004942 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0004976 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0100309 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000020 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000028 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000047 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000179 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000194 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000232 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000252 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000276 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000303 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000307 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000316 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000358 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000403 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000431 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000437 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000486 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000490 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000506 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000733 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000767 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000768 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001159 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001250 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001274 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001371 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001510 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001627 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001643 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001671 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001763 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001822 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002011 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002079 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002136 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002251 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002342 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002360 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002427 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002607 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002650 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002750 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002857 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0004322 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0004325 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0005274 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0007328 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0009487 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0009765 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0009909 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0010055 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0010511 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0010761 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0010845 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0010862 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0010864 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0011228 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0011229 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0012385 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0012758 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0031936 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0040082 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000003 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000075 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000076 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000077 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000125 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000126 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000212 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000405 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000478 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000480 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000483 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000518 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000545 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000568 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000612 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000639 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000678 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000684 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000687 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000692 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000735 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000739 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001181 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001182 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001251 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001252 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001257 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001320 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001492 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001636 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001642 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001647 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001650 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001680 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001746 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001848 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002013 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002019 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002021 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002119 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002126 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002133 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002335 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002376 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002500 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002540 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002579 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002719 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0003763 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0004313 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0004387 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0006482 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0007042 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0007048 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0007165 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0007270 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0007359 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0010850 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0012081 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0025100 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0025156 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0032046 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000034 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000041 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000048 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000054 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000175 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000193 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000407 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0000876 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0001153 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002015 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002757 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0002777 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0004961 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0011326 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0030264 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0410005 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2152 Mowat-Wilson syndrome HP:0410031 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0000615 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0000975 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0001250 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0001657 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0002251 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0004375 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0006747 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0011675 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0002251 ORPHA:2150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0010624 ORPHA:2150 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0001156 ORPHA:2150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0001804 ORPHA:2150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0009650 ORPHA:2150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0010111 ORPHA:2150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0000708 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0000716 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0000726 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0000737 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0000752 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0001250 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0001251 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0001332 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0001347 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0001824 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0002063 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0002066 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0002067 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0002072 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0002136 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0002500 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0012547 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0030190 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0200147 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0001272 ORPHA:248111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0001336 ORPHA:248111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0002073 ORPHA:248111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0002119 ORPHA:248111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:248111 Juvenile Huntington disease HP:0006855 ORPHA:248111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0000343 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0000400 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0000407 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0000431 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0001249 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0001800 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0001943 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0002119 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0002120 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0002750 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0002927 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0005819 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0005844 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0008666 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002720 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002850 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0004313 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0004315 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0004429 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0010975 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0011839 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001508 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001888 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001945 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002718 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002743 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002841 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0004385 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0004429 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0031381 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0031402 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0045080 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0200117 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0000980 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0000988 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001433 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001873 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001880 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001890 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002240 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002840 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002910 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002960 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0040089 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2157 Histidinemia HP:0002927 ORPHA:2157 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2157 Histidinemia HP:0010906 ORPHA:2157 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2157 Histidinemia HP:0000708 ORPHA:2157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2157 Histidinemia HP:0000752 ORPHA:2157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2157 Histidinemia HP:0001328 ORPHA:2157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2157 Histidinemia HP:0002167 ORPHA:2157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2157 Histidinemia HP:0011343 ORPHA:2157 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0001829 ORPHA:2155 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0002251 ORPHA:2155 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0000104 ORPHA:2155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0000316 ORPHA:2155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0000407 ORPHA:2155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0001162 ORPHA:2155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0001249 ORPHA:2155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0002355 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0003198 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0003376 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0003458 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0003557 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0003687 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0003805 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0008180 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0009027 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0009049 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0009058 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0031374 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0002312 ORPHA:609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0003731 ORPHA:609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0008994 ORPHA:609 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0008959 ORPHA:609 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0001638 ORPHA:609 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0002878 ORPHA:609 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:609 Tibial muscular dystrophy HP:0009077 ORPHA:609 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0003198 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0003458 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0008954 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0008959 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0009027 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0009077 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0002312 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0002355 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0003376 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0003805 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0007149 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0008180 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:603 Distal myopathy, Welander type HP:0001638 ORPHA:603 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:606 Proximal myotonic myopathy HP:0000518 ORPHA:606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:606 Proximal myotonic myopathy HP:0002486 ORPHA:606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001260 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001283 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001347 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001430 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001604 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001609 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001611 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001621 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002015 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002317 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002355 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002460 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002747 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002835 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0003457 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0003738 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0003805 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0005934 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0007354 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0008180 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0008756 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0031374 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0430015 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0003547 ORPHA:600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0007149 ORPHA:600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0008049 ORPHA:600 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0000726 ORPHA:600 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0000762 ORPHA:600 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002936 ORPHA:600 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0009071 ORPHA:600 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0003805 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0007340 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0008180 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0008963 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0009027 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0012548 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0100299 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0000821 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0003376 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0003438 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0003458 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0003547 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0003557 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0006251 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0006467 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0012515 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0030007 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0100284 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0001324 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0001436 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0003691 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0003724 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0007210 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0010628 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0040047 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0001638 ORPHA:602 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0009077 ORPHA:602 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:602 GNE myopathy HP:0003731 ORPHA:602 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001250 ORPHA:464282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001263 ORPHA:464282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0007020 ORPHA:464282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000316 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000407 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000490 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000545 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000556 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000750 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001249 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001251 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001257 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001260 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001332 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002061 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002123 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002317 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002355 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002515 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002650 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002714 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002808 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002827 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0008936 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0025313 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0031087 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000020 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000252 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001513 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002059 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002069 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002079 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0004322 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0008373 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0010219 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0011166 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0011401 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0012762 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001437 ORPHA:464282 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002380 ORPHA:464282 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3471 Young syndrome HP:0000144 ORPHA:3471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3471 Young syndrome HP:0001732 ORPHA:3471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3471 Young syndrome HP:0002837 ORPHA:3471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3471 Young syndrome HP:0005425 ORPHA:3471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3471 Young syndrome HP:0011962 ORPHA:3471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0009881 ORPHA:3472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0010102 ORPHA:3472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0010107 ORPHA:3472 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000047 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000054 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000188 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000216 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000233 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000268 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000316 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000322 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000331 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000347 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000348 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000369 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000463 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000518 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000520 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000582 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000647 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000653 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000954 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001159 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001167 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001182 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001263 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001274 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001302 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001525 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001629 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001638 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001640 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001831 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001838 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001840 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0002092 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0002139 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0002209 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0002529 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0002696 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0002705 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0004322 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0004331 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0005793 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0005819 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0005989 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0006323 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0006628 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0006709 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0006710 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0007333 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0007633 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0008386 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0008897 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0008935 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0009381 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0009777 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0010035 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0010067 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0010537 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0011061 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0011451 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0012294 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000377 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0040163 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0045075 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000028 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000059 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000162 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000238 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000365 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000568 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000773 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0000822 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001321 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001561 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001631 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001789 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001920 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0002021 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0002827 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0003015 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0004993 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0006713 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0008665 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0010880 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0012809 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0030816 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0100817 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3472 Yunis-Varon syndrome HP:0001636 ORPHA:3472 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0000008 ORPHA:2141 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0000776 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0000782 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0001539 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0002089 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0002814 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0002817 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0002823 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0004209 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0004331 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0006101 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0006492 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0006495 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0006501 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0006507 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0100560 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0001875 ORPHA:51636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0001888 ORPHA:51636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0011992 ORPHA:51636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0031020 ORPHA:51636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0031160 ORPHA:51636 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0002090 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0002718 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0002788 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0004313 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0006532 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0011947 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0012740 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0200043 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0000246 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0000388 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0001636 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0002070 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0002110 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0002167 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0002172 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0002244 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0007010 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0025439 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0030079 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0000166 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0001045 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0001250 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0001287 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0002840 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0011850 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0012056 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0100658 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0100750 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51636 WHIM syndrome HP:0100806 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2140 Congenital diaphragmatic hernia HP:0000776 ORPHA:2140 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2140 Congenital diaphragmatic hernia HP:0000884 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2140 Congenital diaphragmatic hernia HP:0002089 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2140 Congenital diaphragmatic hernia HP:0002098 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2140 Congenital diaphragmatic hernia HP:0002566 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2140 Congenital diaphragmatic hernia HP:0010315 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2140 Congenital diaphragmatic hernia HP:0012418 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2140 Congenital diaphragmatic hernia HP:0030680 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2149 Nodular neuronal heterotopia HP:0001250 ORPHA:2149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2149 Nodular neuronal heterotopia HP:0002269 ORPHA:2149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2149 Nodular neuronal heterotopia HP:0002353 ORPHA:2149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0000708 ORPHA:2148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0001250 ORPHA:2148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002463 ORPHA:2148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0100543 ORPHA:2148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0001302 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0001371 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002197 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0003808 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0007015 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0012469 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0012672 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0031882 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0007359 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0100021 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0000713 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0000729 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0000737 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002015 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002079 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002339 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002521 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002650 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002835 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0005484 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0006956 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0008872 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0012448 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0012520 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0012762 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0200134 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000175 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000248 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000262 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000272 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000316 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000347 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000444 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000465 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000772 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000795 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0001156 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0001171 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0001363 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0001511 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0001562 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0002983 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0003196 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0004322 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0006101 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0006703 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0008551 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0009738 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0010935 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0100543 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000093 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000130 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000256 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000260 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000316 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000337 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000349 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000358 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000407 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000494 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000520 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000529 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000541 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000545 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000556 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000612 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000776 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0000813 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0001249 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0001250 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0001263 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0001537 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0001539 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0001629 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0002566 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0003196 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0005280 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2143 Donnai-Barrow syndrome HP:0007370 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000169 ORPHA:3473 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000154 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000414 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000445 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001249 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001382 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001804 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001817 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0002265 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0004554 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0009102 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0009894 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000158 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000175 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000193 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000218 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000316 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000347 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000470 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000494 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000506 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000518 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000527 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000574 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000668 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000811 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000977 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001250 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001510 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001744 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001761 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001763 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001822 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0002219 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0002240 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0008947 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0011069 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0030680 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0000407 ORPHA:3473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0001869 ORPHA:3473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0006191 ORPHA:3473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0006391 ORPHA:3473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3473 Zimmermann-Laband syndrome HP:0007440 ORPHA:3473 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000098 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000164 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000248 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000286 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000316 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000322 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000356 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000365 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000457 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000480 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000486 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000508 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000668 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000691 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0001249 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0006482 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0006709 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0007477 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0008064 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0010783 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0012471 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000175 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000582 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0001250 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0001636 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0001669 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0001773 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0004279 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0005930 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0006660 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0007957 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0009767 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0010173 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0010882 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0011069 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000077 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000126 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000717 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0000962 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0008070 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0001629 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0002120 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0002213 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0002488 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0002797 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0002827 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0100760 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3474 CHIME syndrome HP:0200042 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000233 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000343 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000490 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000924 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001156 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001249 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001263 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001999 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0004689 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0008947 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000028 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000212 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000316 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000457 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000463 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000470 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000486 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000964 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001250 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001256 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001328 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001513 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0010864 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0011220 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0012368 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0012443 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000076 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000089 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000252 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000278 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000384 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000407 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000589 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000592 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000620 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000818 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000852 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001601 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0002079 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0002342 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0003065 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0007074 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0010535 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0011968 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0031938 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000938 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000974 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000978 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001373 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001382 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001582 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001760 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001763 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001765 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001822 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0031158 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001537 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001634 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001999 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002827 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002933 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0004976 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0007457 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0025509 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000023 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000028 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000189 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000218 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000347 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000400 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000465 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000483 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000486 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000545 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000692 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000704 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000767 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000819 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000960 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001097 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001166 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001252 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001263 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001270 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001488 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001596 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001698 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001780 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001852 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002155 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002616 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002619 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002751 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002808 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002943 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0003042 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0003834 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0003994 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0006243 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0006439 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0006480 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0008138 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0009938 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0010810 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0010829 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0025232 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0100546 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0100658 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000076 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000085 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000218 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000233 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000238 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000252 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000286 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000316 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000319 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000347 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000348 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000384 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000486 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000506 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000582 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000664 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0000750 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0001252 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0001263 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0001274 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0001510 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0001671 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0002007 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0002069 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0002119 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0002263 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0002566 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0002650 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0004322 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0004422 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0005487 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0007766 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238769 1q44 microdeletion syndrome HP:0010864 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0025637 ORPHA:284388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0030907 ORPHA:284388 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002076 ORPHA:284388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002331 ORPHA:284388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0410263 ORPHA:284388 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0000613 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0000622 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0001289 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0001342 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0001892 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002013 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002138 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002140 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002183 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002326 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002352 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0004302 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0004944 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0009145 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0001250 ORPHA:284388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002181 ORPHA:284388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0012158 ORPHA:284388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0030746 ORPHA:284388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0100309 ORPHA:284388 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000519 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001250 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001508 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002342 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002521 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002910 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0008947 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0010864 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0012758 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000252 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000483 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000486 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000510 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000577 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000639 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000648 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000662 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000717 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000718 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000750 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000939 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000998 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001072 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001166 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001265 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001276 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001317 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001321 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001371 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001657 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001903 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001976 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002079 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002089 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002120 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002123 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002170 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002240 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002283 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002650 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0003186 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0003429 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0004855 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0009062 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0009125 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0010781 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0010845 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0011097 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0011153 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0011968 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0012050 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0012385 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0012512 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0025534 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0030084 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0030213 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0200134 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0410263 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0000365 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001251 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001337 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001344 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001558 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0001989 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002304 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002401 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0002540 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0012168 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:86309 DPAGT1-CDG HP:0012172 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0000508 ORPHA:230800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0000651 ORPHA:230800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0001324 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0002015 ORPHA:230800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0002019 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0002094 ORPHA:230800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0002747 ORPHA:230800 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0003470 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0006597 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0006824 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0011499 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:230800 Toxin-mediated infectious botulism HP:0100021 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0100661 ORPHA:221091 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0000716 ORPHA:221091 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0012199 ORPHA:221091 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0012533 ORPHA:221091 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0000183 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0000740 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0002465 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0003401 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0003474 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0004948 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0011968 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0200025 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0001293 ORPHA:221091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0002664 ORPHA:221091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0007305 ORPHA:221091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0011096 ORPHA:221091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221091 Trigeminal neuralgia HP:0200026 ORPHA:221091 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000008 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000022 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000028 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000046 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000047 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000048 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000062 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000130 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000144 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000147 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0008736 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0010459 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0012856 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0100779 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0003237 ORPHA:2137 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0010702 ORPHA:2137 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0002910 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0003262 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0003453 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0003493 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0030908 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0030909 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0000716 ORPHA:2137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0002027 ORPHA:2137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0002829 ORPHA:2137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0012432 ORPHA:2137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0012522 ORPHA:2137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0000099 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0000739 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0000952 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0001045 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0001369 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0001394 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0001541 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0001744 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0002037 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0002239 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0003573 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0006555 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0030991 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0100279 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0100646 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0200119 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0001402 ORPHA:2137 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0004787 ORPHA:2137 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2137 Autoimmune hepatitis HP:0006562 ORPHA:2137 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000316 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000369 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000431 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000684 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001004 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001249 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001530 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001888 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001999 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0002024 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0004313 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0005280 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0006482 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0008572 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0009804 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0011069 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0012368 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0100764 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000212 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000286 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000337 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000501 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000774 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001055 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001250 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001541 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001744 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0002205 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0002716 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0011830 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000085 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000086 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000160 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000278 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000322 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0000405 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001302 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001363 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001698 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001760 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0001789 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0002021 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0002093 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0002215 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0002901 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0006101 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0006521 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0010310 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0100026 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0100490 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2136 Hennekam syndrome HP:0100835 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000179 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000218 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000325 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000648 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000989 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0001000 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0001249 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0001252 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0001284 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0001508 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0002090 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0002093 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0002119 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0002615 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0002650 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0004322 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0008551 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0011344 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0012378 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0100559 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0200034 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000252 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000270 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000336 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000347 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000365 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000405 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000431 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000445 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000520 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000582 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000737 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0000924 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0001025 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0001072 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0001250 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0001482 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0002013 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0002027 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0003189 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0004209 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0007400 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0007440 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0010783 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0011675 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0012733 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0100326 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0100490 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0100495 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0100585 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0100725 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2135 Hennekam-Beemer syndrome HP:0200037 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000135 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000153 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000232 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000239 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000252 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000365 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000684 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000819 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000855 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000873 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0000924 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0001249 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0001508 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0001597 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0001620 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0001943 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0001956 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0001999 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0002213 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0002721 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0002750 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0003124 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0004322 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0005978 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:181393 Growth hormone insensitivity syndrome HP:0008736 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0000093 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0000790 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0001871 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0001873 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0001919 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0001937 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0001939 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0045040 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0004431 ORPHA:2134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0005339 ORPHA:2134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0005356 ORPHA:2134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0005416 ORPHA:2134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2134 Atypical hemolytic uremic syndrome HP:0040229 ORPHA:2134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0000716 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0000739 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0001293 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0030164 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0030766 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0030811 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0032148 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0200025 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:3000047 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0000174 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0001250 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0001279 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0001605 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0001609 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0001662 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0001824 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0002315 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0002617 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0002664 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0002960 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0003319 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0004395 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0007099 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0011968 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0012534 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0012534 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0032043 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0100008 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221098 Glossopharyngeal neuralgia HP:0200136 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0004840 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0010972 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0011902 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0020059 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0025066 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0032231 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0011905 ORPHA:2133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0001511 ORPHA:2133 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0001622 ORPHA:2133 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0001744 ORPHA:2133 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0004817 ORPHA:2133 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0005546 ORPHA:2133 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2133 Hemoglobin E disease HP:0005268 ORPHA:2133 TAS HP:0040284 C ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002579 ORPHA:2131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0011024 ORPHA:2131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0012194 ORPHA:2131 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000565 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000577 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000639 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000708 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000750 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000980 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001249 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001250 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001251 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001332 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001508 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002013 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002014 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002015 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002019 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002039 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002273 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0003270 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0011499 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0012332 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0012547 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0012758 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0031284 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0200136 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000297 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000348 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000657 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000712 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000718 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0000975 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001252 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001260 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001266 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001284 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001337 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001347 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001944 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002063 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002069 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002072 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002098 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002104 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002133 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002263 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002315 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002344 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002483 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002714 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002835 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0005135 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0007166 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0007256 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0011153 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0031546 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0031931 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0032649 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0045074 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0100710 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0001638 ORPHA:2131 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0011675 ORPHA:2131 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0002353 ORPHA:2131 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2131 Alternating hemiplegia of childhood HP:0410263 ORPHA:2131 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0000407 ORPHA:71289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0001385 ORPHA:71289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0002974 ORPHA:71289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0004209 ORPHA:71289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0004859 ORPHA:71289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0006101 ORPHA:71289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000010 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000026 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000079 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000112 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000135 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000407 ORPHA:3463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000501 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000602 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000639 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000648 ORPHA:3463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000708 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000726 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000738 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000819 ORPHA:3463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000823 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0000873 ORPHA:3463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0001249 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0001250 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0001251 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0001260 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0001387 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0001638 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0001903 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0001959 ORPHA:3463 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0002019 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0002024 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0002093 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0002120 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0002239 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0002360 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0002376 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0012332 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0002592 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0002871 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0003198 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0008872 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0009830 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0100016 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3463 Wolfram syndrome HP:0100518 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000013 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000054 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000135 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000411 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000821 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000823 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000824 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000831 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000842 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000938 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0001256 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0001260 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0001266 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0001268 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0001332 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0001510 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0008209 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0001596 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0002750 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0003077 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0005135 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0008214 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0040171 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0008619 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0008669 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0008697 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0008734 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0010464 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0100840 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000325 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000448 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000674 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000709 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0000738 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3464 Woodhouse-Sakati syndrome HP:0040189 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3465 Worster-Drought syndrome HP:0000252 ORPHA:3465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3465 Worster-Drought syndrome HP:0000407 ORPHA:3465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3465 Worster-Drought syndrome HP:0001250 ORPHA:3465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3465 Worster-Drought syndrome HP:0001291 ORPHA:3465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3465 Worster-Drought syndrome HP:0001347 ORPHA:3465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3465 Worster-Drought syndrome HP:0002167 ORPHA:3465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3465 Worster-Drought syndrome HP:0002445 ORPHA:3465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3465 Worster-Drought syndrome HP:0100543 ORPHA:3465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0003537 ORPHA:3467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0011935 ORPHA:3467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0000791 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0000804 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0002932 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0003534 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0003643 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0010933 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0010934 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0011814 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0020074 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0000010 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0000126 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0000790 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0001370 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0001919 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0003040 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0003198 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0004396 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0012432 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0030157 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3467 Hereditary xanthinuria HP:0001997 ORPHA:3467 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0000154 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0000311 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0000368 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0000414 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0000823 ORPHA:2139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0001250 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0001263 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0001513 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0002002 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0002353 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0002023 ORPHA:3469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0005288 ORPHA:3469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0002818 ORPHA:3469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0000601 ORPHA:3469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0001561 ORPHA:3469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0001629 ORPHA:3469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0000160 ORPHA:3469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0000252 ORPHA:3469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0000568 ORPHA:3469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0000600 ORPHA:3469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0000811 ORPHA:3469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3469 XK aprosencephaly syndrome HP:0001631 ORPHA:3469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001371 ORPHA:536516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001382 ORPHA:536516 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001270 ORPHA:536516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003324 ORPHA:536516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003557 ORPHA:536516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0025335 ORPHA:536516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0031936 ORPHA:536516 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000347 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000545 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000592 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000767 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000974 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000977 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000980 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001058 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001181 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001182 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001252 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001284 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001319 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001508 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001601 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001762 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001763 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002650 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002705 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002751 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002803 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002808 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002828 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002987 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003044 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003199 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003307 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003546 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003701 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0005879 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0005988 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0006380 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0006466 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0008180 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0008366 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0008780 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0009473 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0010499 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0010862 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0030319 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0030051 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0032152 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000154 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000219 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000273 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000322 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000337 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000455 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000484 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000486 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000752 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0001263 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002121 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002213 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002465 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002500 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0008947 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0010864 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0012448 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0100807 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000047 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000218 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000286 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000316 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000347 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000483 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000490 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000582 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000609 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000629 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000637 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000729 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000742 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000744 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000748 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0001388 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0001511 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0001566 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002007 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002061 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002360 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002546 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0005280 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0008770 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0009836 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0010511 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0011968 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0012450 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0045025 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0100033 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0000488 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0001138 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002069 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002151 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002180 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002283 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002370 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002416 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002490 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002579 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002922 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0003739 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0003808 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0011344 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0011451 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0011923 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0011924 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0012332 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0012448 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0030884 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0040078 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0100275 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000028 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000219 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000336 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000347 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000455 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000490 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000574 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000712 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000771 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0001182 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0001249 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0001263 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0001761 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0001763 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0001773 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0001956 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0001999 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0002465 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0004322 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0008551 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0010620 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0200055 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000044 ORPHA:3459 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0001250 ORPHA:3459 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0001328 ORPHA:3459 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000518 ORPHA:3459 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0000540 ORPHA:3459 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3459 Wilson-Turner syndrome HP:0009909 ORPHA:3459 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0001824 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0002664 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0010787 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0012378 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0031459 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0100527 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0000016 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0000290 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0000651 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0001943 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0001945 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0001988 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0002019 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0002585 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0002896 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0003419 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0004375 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0004912 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0007185 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0008775 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0010784 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0012125 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0030166 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0030795 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0031501 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0040216 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0045026 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0100526 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0100650 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:295036 Congenital patella dislocation HP:0002999 ORPHA:295036 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:295036 Congenital patella dislocation HP:0002355 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:295036 Congenital patella dislocation HP:0002829 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:295036 Congenital patella dislocation HP:0002857 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:295036 Congenital patella dislocation HP:0003066 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:295036 Congenital patella dislocation HP:0003326 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:295036 Congenital patella dislocation HP:0006380 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:295036 Congenital patella dislocation HP:0009787 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0000083 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0000142 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0000929 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001541 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001561 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001608 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001622 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001643 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001789 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001873 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001903 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001928 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001939 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0002240 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0030680 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0003072 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0007461 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0008678 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0100761 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3451 Infantile spasms syndrome HP:0001336 ORPHA:3451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3451 Infantile spasms syndrome HP:0002376 ORPHA:3451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3451 Infantile spasms syndrome HP:0002521 ORPHA:3451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3451 Infantile spasms syndrome HP:0012469 ORPHA:3451 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3451 Infantile spasms syndrome HP:0000707 ORPHA:3451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3451 Infantile spasms syndrome HP:0011121 ORPHA:3451 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0000238 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0000520 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0000554 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0000716 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0000821 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0000855 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001250 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001251 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001324 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001336 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001369 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001658 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001701 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001744 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001903 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001945 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0001959 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002014 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002024 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002027 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002039 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002093 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002102 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002239 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002240 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002360 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002376 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002383 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002516 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002615 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002829 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0002902 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0003326 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0004326 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0006824 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0007256 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0007440 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0009830 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0010741 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0012378 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0012735 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0012819 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0100614 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0100639 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0100721 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0100749 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3452 Whipple disease HP:0100829 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0000505 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0000518 ORPHA:3453 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0000613 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0000829 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0001053 ORPHA:3453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0001231 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0003118 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0001596 ORPHA:3453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0002514 ORPHA:3453 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0002728 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0002960 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0004319 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0007759 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0008207 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0008221 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0100530 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0100659 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0000486 ORPHA:3454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0000496 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0000508 ORPHA:3454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0000657 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0001256 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0001263 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0001376 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0002167 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0002650 ORPHA:3454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0002808 ORPHA:3454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0003693 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0004209 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0005745 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0100022 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000160 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000219 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000272 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000278 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000292 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000307 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000316 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000322 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000325 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000337 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000358 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000444 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000490 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000582 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000621 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000695 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008070 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001043 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001511 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001533 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002007 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002209 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002714 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000444 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0004322 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0004482 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0004492 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0005328 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003758 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008846 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0009059 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100578 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000028 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000044 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000126 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000164 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000238 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000267 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000364 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000369 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000403 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000518 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000540 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000545 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000598 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000664 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000668 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000824 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000870 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000938 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000956 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000963 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001007 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001257 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001263 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001276 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001289 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001382 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001385 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001397 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001508 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001510 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001581 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001945 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002078 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002155 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002342 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002415 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002509 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002684 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002751 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003097 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003326 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003429 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003712 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0005792 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0006470 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0006480 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0007957 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008070 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008386 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008476 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0009003 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0010511 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0010648 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0011410 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0011819 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0011968 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0012811 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100490 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100678 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100769 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100807 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000010 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000076 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000387 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000463 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000580 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000639 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000648 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000771 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000946 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001250 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001251 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001274 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001321 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001337 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001601 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001642 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002126 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002345 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003413 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0004691 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0007099 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000580 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008469 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008479 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0010994 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0030265 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100581 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000047 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000592 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000836 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0005164 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0005978 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0007766 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0025134 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0030001 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0030088 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0045017 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0000324 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0000465 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0000470 ORPHA:3456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0000538 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0001132 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0002162 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0002435 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0002949 ORPHA:3456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0008527 ORPHA:3456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0010628 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3456 Wildervanck syndrome HP:0006897 ORPHA:3456 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0002500 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0002060 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000238 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0011450 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0001250 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0025315 ORPHA:447788 TAS HP:0040283 M ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0002180 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0100021 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0010794 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0001249 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000252 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0007009 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000486 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000539 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000639 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0012796 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000543 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0001141 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0025405 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0007772 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0001123 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000736 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0007018 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000729 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0002312 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000496 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0001622 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0002140 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0001998 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0002170 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0032046 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0001287 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0002383 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0012443 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0410263 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0030800 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0500049 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000609 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000648 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000641 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447788 Cerebral visual impairment HP:0000657 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0000023 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0000028 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0000164 ORPHA:2128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0000324 ORPHA:2128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0001256 ORPHA:2128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0001528 ORPHA:2128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0001555 ORPHA:2128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0002475 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0030680 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0002650 ORPHA:2128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0002667 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2128 Isolated hemihyperplasia HP:0007328 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0001824 ORPHA:103910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0002014 ORPHA:103910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0002243 ORPHA:103910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0003073 ORPHA:103910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0011012 ORPHA:103910 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0000969 ORPHA:103910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0001944 ORPHA:103910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0002573 ORPHA:103910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0003270 ORPHA:103910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0010876 ORPHA:103910 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0000473 ORPHA:71272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0002020 ORPHA:71272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0002457 ORPHA:71272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0002533 ORPHA:71272 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0001903 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0002036 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0002248 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0004637 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0011968 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0012547 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0100633 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0410019 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71272 Sandifer syndrome HP:0002572 ORPHA:71272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0000093 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0000790 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0001920 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0002619 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0011934 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0012871 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0030157 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0001903 ORPHA:71273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0002907 ORPHA:71273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0012378 ORPHA:71273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0100677 ORPHA:71273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0000789 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0001278 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0001279 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0001649 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0001824 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0002018 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0002027 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0012332 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0030016 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71273 Renal nutcracker syndrome HP:0100607 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0000539 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0000551 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0000613 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0007803 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0012043 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0030465 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0030584 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0030620 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0000540 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0000545 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0000603 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0007663 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0007750 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0030825 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0001103 ORPHA:49382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0007695 ORPHA:49382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0007814 ORPHA:49382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0007843 ORPHA:49382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0025549 ORPHA:49382 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:49382 Achromatopsia HP:0007722 ORPHA:49382 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0001273 ORPHA:221074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0004395 ORPHA:221074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0030955 ORPHA:221074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0100503 ORPHA:221074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0001259 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0001260 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0001288 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002066 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002315 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002354 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002509 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0007185 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0007305 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0100543 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0100851 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000020 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000504 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000602 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000639 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000651 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000708 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000709 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000716 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000718 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000726 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000741 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0000746 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0001250 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0001251 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0001262 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0001269 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0001289 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002013 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002063 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002134 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002186 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002273 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002300 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002321 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002367 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002381 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002476 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0002922 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0007256 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0010522 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0010526 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0010628 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0030784 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0031258 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221074 Marchiafava-Bignami disease HP:0001945 ORPHA:221074 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0005213 ORPHA:103918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0005236 ORPHA:103918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0410019 ORPHA:103918 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0002018 ORPHA:103918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0008205 ORPHA:103918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0030992 ORPHA:103918 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0000952 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0001824 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0002013 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0004395 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0006725 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103918 Tropical pancreatitis HP:0009800 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000206 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000230 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000478 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000486 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000504 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000613 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000639 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000712 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000738 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000739 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000988 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0000992 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0001053 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0001249 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0001250 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0001251 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0001252 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0001263 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0001347 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0002024 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0002076 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0002353 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0002383 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0004322 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0007400 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0008066 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0008353 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2116 Hartnup disease HP:0012086 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3448 Weaver-Williams syndrome HP:0000160 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3448 Weaver-Williams syndrome HP:0000175 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3448 Weaver-Williams syndrome HP:0000252 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3448 Weaver-Williams syndrome HP:0000411 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3448 Weaver-Williams syndrome HP:0002342 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3448 Weaver-Williams syndrome HP:0004325 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3448 Weaver-Williams syndrome HP:0010864 ORPHA:3448 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000003 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000028 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000047 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000160 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000218 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000252 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000275 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000276 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000307 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000411 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000518 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000601 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0000689 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0001053 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0001166 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0001249 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0001250 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0001508 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0001511 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0002120 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0002644 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0002650 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0002808 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0003043 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0003189 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2115 Harrod syndrome HP:0005692 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0000501 ORPHA:3449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0000518 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0000572 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0001072 ORPHA:3449 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0001083 ORPHA:3449 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0001156 ORPHA:3449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0001256 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0001376 ORPHA:3449 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0001629 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0001642 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0001650 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0001653 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0030680 ORPHA:3449 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0004322 ORPHA:3449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0009778 ORPHA:3449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3449 Weill-Marchesani syndrome HP:0011003 ORPHA:3449 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0001385 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0002650 ORPHA:2114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0002758 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0002808 ORPHA:2114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0002812 ORPHA:2114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0004348 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0005930 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0006429 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0009107 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0010574 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2114 Hip dysplasia, Beukes type HP:0011849 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103909 Trehalase deficiency HP:0012379 ORPHA:103909 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103909 Trehalase deficiency HP:0000118 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103909 Trehalase deficiency HP:0002013 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103909 Trehalase deficiency HP:0002014 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103909 Trehalase deficiency HP:0002024 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103909 Trehalase deficiency HP:0002027 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103909 Trehalase deficiency HP:0003270 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2111 Cystic hamartoma of lung and kidney HP:0000003 ORPHA:2111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2111 Cystic hamartoma of lung and kidney HP:0000822 ORPHA:2111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2111 Cystic hamartoma of lung and kidney HP:0002093 ORPHA:2111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2111 Cystic hamartoma of lung and kidney HP:0002205 ORPHA:2111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2111 Cystic hamartoma of lung and kidney HP:0002206 ORPHA:2111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2110 Hallux varus-preaxial polysyndactyly syndrome HP:0001852 ORPHA:2110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2110 Hallux varus-preaxial polysyndactyly syndrome HP:0004209 ORPHA:2110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0000183 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0001260 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0001288 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0001618 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0002015 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0005216 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0007325 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0000158 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0001250 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0001272 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0002059 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0002317 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0002425 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0007327 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0007885 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0008777 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0012048 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0012087 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0012088 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0000212 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0000739 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0001263 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0001336 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412217 Dystonia-aphonia syndrome HP:0100543 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000130 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000142 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000153 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000159 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000202 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000271 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000365 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000405 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000426 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000430 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000431 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000478 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000504 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000506 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000508 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000534 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000632 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0000664 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0001000 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0001053 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0001100 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0001999 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0002211 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0002216 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0002251 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0002475 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0005214 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0005599 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0011024 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3440 Waardenburg syndrome HP:0100811 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000322 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000407 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000426 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000684 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000703 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000926 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000939 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0001256 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0001999 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0004322 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0010579 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002187 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0006829 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0008277 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0012301 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0012736 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0032098 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0000486 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0001250 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0001272 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0001531 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002120 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002421 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002540 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0004322 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0025405 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0000365 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0000369 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0000483 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0000540 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0000639 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0000938 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0001332 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0001347 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0001363 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0001392 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002119 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002465 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002490 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002521 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002719 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002882 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002928 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0002987 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0006380 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0006558 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0008314 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0008347 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0008873 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0009826 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0010621 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468699 SLC39A8-CDG HP:0012368 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0011274 ORPHA:319552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0032283 ORPHA:319552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0030782 ORPHA:319552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0005661 ORPHA:319552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0005401 ORPHA:319552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0007408 ORPHA:319552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0002840 ORPHA:319552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0002090 ORPHA:319552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0002721 ORPHA:319552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0020087 ORPHA:319552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0200029 ORPHA:319552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0002742 ORPHA:319552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0032256 ORPHA:319552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0032249 ORPHA:319552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0020105 ORPHA:319552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001250 ORPHA:95232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0006891 ORPHA:95232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0012469 ORPHA:95232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0000253 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001273 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001302 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002079 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002119 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002389 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002421 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002445 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002463 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0007772 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0008936 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0010850 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0010864 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0011968 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0012520 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0012758 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0020191 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0025336 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0031882 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0032398 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0200134 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001256 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001319 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001561 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002123 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002179 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002187 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002376 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002384 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002521 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0003265 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0007270 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0010818 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0010819 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0011153 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0011201 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0011951 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0020189 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001320 ORPHA:95232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002478 ORPHA:95232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002650 ORPHA:95232 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002064 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002174 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002344 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002464 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002493 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002505 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0003487 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0007083 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0007178 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0007240 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0007350 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0001761 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0000519 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0000726 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0001252 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002020 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002987 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0003438 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0003477 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0004373 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0006827 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0000519 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0000600 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0000615 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0001334 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0001561 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0001622 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0001638 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0001706 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0002093 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0008046 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0011675 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2119 HEC syndrome HP:0100673 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2118 Hawkinsinuria HP:0000821 ORPHA:2118 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2118 Hawkinsinuria HP:0001252 ORPHA:2118 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2118 Hawkinsinuria HP:0001508 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2118 Hawkinsinuria HP:0001942 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2118 Hawkinsinuria HP:0002213 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2118 Hawkinsinuria HP:0003161 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2118 Hawkinsinuria HP:0003607 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2118 Hawkinsinuria HP:0008070 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2118 Hawkinsinuria HP:0010917 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000023 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000028 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000098 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000256 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000278 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000311 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000316 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000337 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000343 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000347 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000368 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000400 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000494 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0000944 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001176 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001231 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001249 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001257 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001263 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001276 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001387 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001582 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001609 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001761 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001762 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001769 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001800 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001814 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001816 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0001852 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0002002 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0002213 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0030680 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0002650 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0005616 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0005692 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0006101 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0008736 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0008872 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0010300 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0011304 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3447 Weaver syndrome HP:0100490 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0000175 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0000316 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0000368 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0000494 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0000506 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0000508 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0000568 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0001171 ORPHA:2117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0001363 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0001511 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0002084 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0002093 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0005280 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0006501 ORPHA:2117 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0006870 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0007370 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2117 Hartsfield syndrome HP:0100335 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0100515 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002064 ORPHA:447753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002395 ORPHA:447753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0007350 ORPHA:447753 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001761 ORPHA:447753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0003487 ORPHA:447753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0006895 ORPHA:447753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0007256 ORPHA:447753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0010832 ORPHA:447753 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000012 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000020 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000407 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000519 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000666 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000709 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000726 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001250 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001317 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001324 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001337 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001653 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002166 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002172 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002280 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002354 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002425 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002464 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002500 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002527 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0003394 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0003419 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0007371 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0011397 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0012514 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001257 ORPHA:447760 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002395 ORPHA:447760 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0003487 ORPHA:447760 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0007350 ORPHA:447760 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001260 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001270 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001324 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001510 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002064 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002174 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002445 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0031064 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0000016 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0000252 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0000750 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001263 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001999 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002120 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002371 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002476 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002518 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002751 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0003202 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0003438 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0004322 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0006938 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0007371 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0030051 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0100515 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000400 ORPHA:589905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001249 ORPHA:589905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0012758 ORPHA:589905 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000233 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000316 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000343 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000348 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000455 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000463 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000539 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000540 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000664 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000957 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001182 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001252 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0004209 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0004324 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0007018 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0008872 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0012378 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0100710 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000028 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000286 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000403 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000486 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000508 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000582 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001250 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001288 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001319 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002019 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002020 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002360 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002378 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002761 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002788 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0004691 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0007874 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002500 ORPHA:247691 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0008046 ORPHA:247691 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0030880 ORPHA:247691 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000093 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000096 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000112 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000708 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000822 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001895 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001897 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002076 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0003155 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0003259 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0006707 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0008223 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0011954 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0030948 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0100543 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0410263 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000501 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000709 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000716 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000737 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000739 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000741 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001009 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001123 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001269 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001638 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002077 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002083 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002090 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002197 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002239 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002344 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002354 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002381 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002514 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0011163 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0012377 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0030319 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0030666 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0031606 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0040049 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0040328 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0040331 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0100806 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000988 ORPHA:247691 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0005743 ORPHA:247691 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0200030 ORPHA:247691 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0012379 ORPHA:103907 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0002024 ORPHA:103907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0002027 ORPHA:103907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0025129 ORPHA:103907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0025130 ORPHA:103907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0410281 ORPHA:103907 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0002013 ORPHA:103907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0002018 ORPHA:103907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0002028 ORPHA:103907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0003270 ORPHA:103907 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000499 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000501 ORPHA:3437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000505 ORPHA:3437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000518 ORPHA:3437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000534 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000541 ORPHA:3437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000407 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0001045 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0001053 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0002209 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0002216 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0002290 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0004322 ORPHA:3437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0100543 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000272 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000293 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000444 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000457 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000506 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000768 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0002002 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0002007 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0002857 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0005692 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0010804 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000164 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000311 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000470 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000496 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000592 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000750 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000958 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000964 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0001250 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0001252 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0001263 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0001315 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0001338 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0004097 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0200055 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000164 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000233 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000239 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000293 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000316 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000322 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000337 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000348 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000365 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000369 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000470 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000486 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000508 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000527 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000664 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000717 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000733 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0000750 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0001250 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0001252 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0001263 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0001274 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0001321 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0001337 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0001510 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0001511 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0001770 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0001773 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0002007 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0002119 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0002230 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0002360 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0002650 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0002714 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0002808 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0002983 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0004279 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0005280 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0010864 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0011344 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0100716 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238750 4q21 microdeletion syndrome HP:0200055 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000252 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000268 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000272 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000369 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000400 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0002187 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0002362 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0002705 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0002751 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0003199 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0004322 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0005469 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000494 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000518 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0003413 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0005620 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0010055 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0011304 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0012811 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000028 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000157 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000160 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000162 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000164 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000235 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000248 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000252 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000272 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000347 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000430 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000444 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000453 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000486 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000501 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000505 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000506 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000519 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0045075 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000545 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000554 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000568 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000639 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000653 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000695 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000773 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000821 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000896 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0000929 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0008070 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0001249 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0001321 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0001596 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0001635 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0001773 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0002007 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0002093 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0002231 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0030680 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0002705 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0002757 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0002779 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0003363 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0003508 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0004209 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0004334 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0004349 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0010719 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0011069 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2108 Hallermann-Streiff syndrome HP:0200055 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0000028 ORPHA:3434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0000161 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0000202 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0000252 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0000303 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0000505 ORPHA:3434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0000568 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0001199 ORPHA:3434 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0001249 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0001629 ORPHA:3434 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3434 MMEP syndrome HP:0001839 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0001878 ORPHA:71275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0001923 ORPHA:71275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0005502 ORPHA:71275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0020181 ORPHA:71275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0032366 ORPHA:71275 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0002904 ORPHA:71275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0004444 ORPHA:71275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0004446 ORPHA:71275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0025435 ORPHA:71275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0032231 ORPHA:71275 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0000952 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0001433 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0001511 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0001562 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0001649 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0002789 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0005268 ORPHA:71275 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0011273 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0012418 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71275 Rh deficiency syndrome HP:0001972 ORPHA:71275 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000154 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000252 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000286 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000316 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000431 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000448 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000463 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000682 ORPHA:2107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000684 ORPHA:2107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000926 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0000944 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0001156 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0001250 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0001344 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0001387 ORPHA:2107 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0001508 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0002017 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0002208 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0002217 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0002650 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0002714 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0002750 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0004322 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0005930 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0009826 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0010864 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0011344 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0012471 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2107 Hall-Riggs syndrome HP:0100874 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71276 Silent sinus syndrome HP:0000478 ORPHA:71276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71276 Silent sinus syndrome HP:0000490 ORPHA:71276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71276 Silent sinus syndrome HP:0000504 ORPHA:71276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0000253 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001250 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001251 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001257 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001263 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001298 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001332 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001877 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002133 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002353 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0011972 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0000750 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0000961 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001249 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001254 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001260 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001266 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001269 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001276 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001289 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002072 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002315 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0003470 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0003552 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0007034 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0007308 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0007704 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0100660 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0000486 ORPHA:71277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001336 ORPHA:71277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002186 ORPHA:71277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002360 ORPHA:71277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002871 ORPHA:71277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0001945 ORPHA:79139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002353 ORPHA:79139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002383 ORPHA:79139 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0000273 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0000298 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002013 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002039 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002069 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002315 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002396 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002516 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002922 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0003202 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0003326 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0003431 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0003444 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0003470 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0003496 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0004302 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0004372 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0007277 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0009053 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0010549 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0010702 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0011897 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0012229 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0012378 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0012692 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0025143 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0040272 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0200149 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0000639 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0000708 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0001259 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0001266 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0001276 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0001287 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0001332 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0001336 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0001337 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0001762 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002014 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002027 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002060 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002071 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002098 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002133 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002179 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002181 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002203 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002339 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002418 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002463 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002793 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002816 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002902 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0002987 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0003781 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0007361 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0007695 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0007941 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0008959 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0010543 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0010546 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0010547 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0010628 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0010663 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0010851 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0010864 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0011153 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0011182 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0011468 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0012195 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0012502 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0025145 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0025258 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0025387 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0030826 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0031218 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0045007 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0100543 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79139 Japanese encephalitis HP:0100598 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0001335 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0002312 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0002492 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0003388 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0007010 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0100022 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0001274 ORPHA:238722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0001328 ORPHA:238722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0003326 ORPHA:238722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0025101 ORPHA:238722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0000044 ORPHA:238722 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0001256 ORPHA:238722 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0002949 ORPHA:238722 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238722 Familial congenital mirror movements HP:0100021 ORPHA:238722 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0002322 ORPHA:363654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0002396 ORPHA:363654 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0001257 ORPHA:363654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0002067 ORPHA:363654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0003487 ORPHA:363654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0006801 ORPHA:363654 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0000298 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0001250 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0002313 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0002506 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0006956 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0007082 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0011448 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0012407 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000028 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000048 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000212 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000252 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000278 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000280 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000286 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000293 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000368 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000431 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000520 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000750 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0001263 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0001510 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0001773 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0002342 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0003196 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0004279 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0005280 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0005487 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0008551 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0009891 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0010804 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0011003 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0011825 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0012368 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0100539 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0100540 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000023 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000054 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000190 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000243 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000248 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000325 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000341 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000422 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000463 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000494 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000508 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000639 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000736 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000767 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000768 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0000960 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0001250 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0001377 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0004209 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0006191 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0008846 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0009894 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0010864 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0031008 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363659 20q11.2 microduplication syndrome HP:0200005 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0001719 ORPHA:3426 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0000961 ORPHA:3426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0000160 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0000175 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0000176 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0000316 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0001256 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0001508 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0001629 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0001642 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0001649 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0002789 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0004322 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0004383 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0005280 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0011968 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0030148 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0045025 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:3000022 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0000829 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0001636 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0001660 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0001680 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0002566 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0002901 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0004935 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0010515 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3426 Double outlet right ventricle HP:0030853 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000028 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000175 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000347 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000369 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000413 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000828 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0005916 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0030680 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0002644 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0002823 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0003312 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0006101 ORPHA:3429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0006703 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0008368 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0008551 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0009826 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0100335 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0100542 ORPHA:3429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0000153 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0000234 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0000263 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0000286 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0000316 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0000457 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0000470 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0000476 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0001156 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0001433 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0001538 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0002816 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0003026 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0003196 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0005257 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0005458 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0008551 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0009826 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221054 Acrocephalopolydactyly HP:0012210 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0030447 ORPHA:79140 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0000992 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0002730 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0005374 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0011356 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0025474 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0025475 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0200036 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0002671 ORPHA:79140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0005526 ORPHA:79140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0006739 ORPHA:79140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0006775 ORPHA:79140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0100570 ORPHA:79140 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0012658 ORPHA:79140 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0030692 ORPHA:79140 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0040095 ORPHA:79140 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0012531 ORPHA:79140 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79141 Hereditary painful callosities HP:0005588 ORPHA:79141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79141 Hereditary painful callosities HP:0012531 ORPHA:79141 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0000256 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0000337 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0000348 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0000431 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0000457 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0000944 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0001156 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0001252 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0001288 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0002652 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0002983 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0002992 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0003272 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0003307 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0004322 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0005930 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0009601 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0009836 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93430 Multiple metaphyseal dysplasia HP:0009882 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0003565 ORPHA:411703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002110 ORPHA:411703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0012735 ORPHA:411703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0025406 ORPHA:411703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0031457 ORPHA:411703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0032016 ORPHA:411703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0001698 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0001824 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0001945 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002014 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002094 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002098 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002105 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002202 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002716 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0006510 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0030830 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0032130 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0032283 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0100749 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002107 ORPHA:411703 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0001816 ORPHA:79144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0010793 ORPHA:79144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0030805 ORPHA:79144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0100797 ORPHA:79144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0100798 ORPHA:79144 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0001598 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0001792 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0005918 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0008401 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0009951 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0011313 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0030803 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0031282 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0040036 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0001798 ORPHA:79144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0012203 ORPHA:79144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0012710 ORPHA:79144 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0000202 ORPHA:79144 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0001385 ORPHA:79144 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0002650 ORPHA:79144 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0004691 ORPHA:79144 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79144 Isolated congenital onychodysplasia HP:0012296 ORPHA:79144 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0007456 ORPHA:79145 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0000464 ORPHA:79145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0000962 ORPHA:79145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0030052 ORPHA:79145 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0000989 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0001034 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0001155 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0001231 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0002046 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0012855 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0025473 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0030350 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0031293 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0031447 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0040154 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0045059 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0001369 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0009123 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0010610 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0011354 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0020073 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0030442 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0031525 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0200037 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79145 Dowling-Degos disease HP:0200040 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0001231 ORPHA:79147 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0012622 ORPHA:79147 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0030350 ORPHA:79147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0040186 ORPHA:79147 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0005585 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0011123 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0011124 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0025164 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0031512 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0045059 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0000377 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0000606 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0000989 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0001965 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0007473 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0012322 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0011830 ORPHA:79147 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0000164 ORPHA:79147 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0000819 ORPHA:79147 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79147 Familial reactive perforating collagenosis HP:0001005 ORPHA:79147 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0000164 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0000275 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0000276 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0000286 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0000316 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0000324 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0000431 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0000474 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0000506 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0001172 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0001176 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0001212 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0001622 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0002705 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0002750 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0004209 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0004279 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3424 Velo-facial-skeletal syndrome HP:0004322 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0000104 ORPHA:411709 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0000122 ORPHA:411709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0012300 ORPHA:411709 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0000083 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0000093 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0000822 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0001562 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0001629 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0001762 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0002009 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0002023 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0002089 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0008684 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0010476 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0010958 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:411709 Renal agenesis HP:0012873 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0000464 ORPHA:79148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0045059 ORPHA:79148 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0000271 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0025512 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0025527 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0025528 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0030350 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0200035 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0000973 ORPHA:79148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0007473 ORPHA:79148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79148 Elastosis perforans serpiginosa HP:0025092 ORPHA:79148 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79149 Dermochondrocorneal dystrophy HP:0000924 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79149 Dermochondrocorneal dystrophy HP:0000991 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79149 Dermochondrocorneal dystrophy HP:0001131 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79149 Dermochondrocorneal dystrophy HP:0001155 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79149 Dermochondrocorneal dystrophy HP:0001176 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79149 Dermochondrocorneal dystrophy HP:0001760 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79149 Dermochondrocorneal dystrophy HP:0007663 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0012735 ORPHA:79128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0000964 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0001217 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0001508 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0002091 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0002094 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0002960 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0005948 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0012378 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0012418 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0025179 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0030057 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0030828 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0030830 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0031691 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0032177 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0045051 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0000105 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0000988 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0001097 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0001370 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0001824 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0001945 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0002110 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0002240 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0002721 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0003549 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0011947 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0025178 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0025180 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0030880 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0030950 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0100721 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79128 Lymphoid interstitial pneumonia HP:0002206 ORPHA:79128 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79129 Trichodysplasia-amelogenesis imperfecta syndrome HP:0000705 ORPHA:79129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79129 Trichodysplasia-amelogenesis imperfecta syndrome HP:0002552 ORPHA:79129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79129 Trichodysplasia-amelogenesis imperfecta syndrome HP:0002293 ORPHA:79129 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0000204 ORPHA:34217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0000956 ORPHA:34217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0000975 ORPHA:34217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0000982 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0001635 ORPHA:34217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0001638 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0001645 ORPHA:34217 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0002209 ORPHA:34217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0002212 ORPHA:34217 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0002224 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0002321 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0004751 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0010719 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:34217 Naxos disease HP:0011675 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0001250 ORPHA:221061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0001342 ORPHA:221061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0002315 ORPHA:221061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0001028 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0002516 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0002650 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0002858 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0012748 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0012749 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0030430 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0002572 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0007872 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0011276 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0011513 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0012721 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0100543 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221061 Familial cerebral cavernous malformation HP:0100561 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000786 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000823 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000026 ORPHA:52901 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000044 ORPHA:52901 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000134 ORPHA:52901 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0008213 ORPHA:52901 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0002215 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0002225 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0002750 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000044 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0008214 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0040171 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0008734 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0012569 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000027 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000029 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000798 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000876 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0010791 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0012814 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0012864 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0030018 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000458 ORPHA:52901 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3416 Hyperostosis corticalis generalisata HP:0000303 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3416 Hyperostosis corticalis generalisata HP:0000407 ORPHA:3416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3416 Hyperostosis corticalis generalisata HP:0000889 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3416 Hyperostosis corticalis generalisata HP:0003103 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3416 Hyperostosis corticalis generalisata HP:0004437 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3416 Hyperostosis corticalis generalisata HP:0005019 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3416 Hyperostosis corticalis generalisata HP:0005789 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3416 Hyperostosis corticalis generalisata HP:0010628 ORPHA:3416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0000512 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0000666 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0001139 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0001249 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0001581 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0002046 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0002205 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0003691 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0007476 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0011003 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0030203 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3417 Van den Bosch syndrome HP:0200016 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0000215 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0000294 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0000307 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0000414 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0000437 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0000561 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0001057 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0001075 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0001999 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0002714 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0005338 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0005585 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0005590 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0008070 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0009743 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0010781 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79133 Focal facial dermal dysplasia type I HP:0011221 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0003074 ORPHA:79134 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0040217 ORPHA:79134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0001250 ORPHA:79134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0001324 ORPHA:79134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0008936 ORPHA:79134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0011342 ORPHA:79134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0000343 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0000463 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0001488 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0001944 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0002013 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0002521 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0002714 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0003196 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0005487 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0009830 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0009894 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0040025 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79134 DEND syndrome HP:0030057 ORPHA:79134 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0000104 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0001622 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0001623 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0001945 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0003762 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0008670 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0012532 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0012888 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0030016 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0030711 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0100607 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0100608 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79135 Episodic ataxia type 3 HP:0002131 ORPHA:79135 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79135 Episodic ataxia type 3 HP:0002321 ORPHA:79135 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79135 Episodic ataxia type 3 HP:0002076 ORPHA:79135 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79135 Episodic ataxia type 3 HP:0000360 ORPHA:79135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79135 Episodic ataxia type 3 HP:0002411 ORPHA:79135 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79135 Episodic ataxia type 3 HP:0000639 ORPHA:79135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79135 Episodic ataxia type 3 HP:0001250 ORPHA:79135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79135 Episodic ataxia type 3 HP:0002301 ORPHA:79135 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79135 Episodic ataxia type 3 HP:0002315 ORPHA:79135 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000104 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000238 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000482 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000587 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0001249 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0001511 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0001561 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0002023 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0002032 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0002410 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0002575 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0008678 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0002937 ORPHA:3412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0002984 ORPHA:3412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0003312 ORPHA:3412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0030680 ORPHA:3412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000023 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000028 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000278 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000347 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000356 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000528 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0000568 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0001195 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0002089 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0002139 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0002414 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0002827 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0009892 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0010305 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0011027 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0011267 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3412 VACTERL with hydrocephalus HP:0100541 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79136 Episodic ataxia type 4 HP:0001251 ORPHA:79136 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79136 Episodic ataxia type 4 HP:0000617 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79136 Episodic ataxia type 4 HP:0000640 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79136 Episodic ataxia type 4 HP:0000651 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79136 Episodic ataxia type 4 HP:0002172 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79136 Episodic ataxia type 4 HP:0002311 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79136 Episodic ataxia type 4 HP:0002321 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79136 Episodic ataxia type 4 HP:0002359 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79136 Episodic ataxia type 4 HP:0002457 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79136 Episodic ataxia type 4 HP:0002018 ORPHA:79136 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0002197 ORPHA:79137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0007166 ORPHA:79137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0010849 ORPHA:79137 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0000565 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0000639 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0001263 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0001290 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0002069 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0002072 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0002121 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0006889 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0000602 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001251 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001289 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002329 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0003403 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0003431 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0007305 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0032169 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0000651 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001284 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002090 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002094 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002270 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002353 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002922 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0003690 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0007131 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0007209 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0007256 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0011947 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0012534 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0012696 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0030057 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0000496 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0000508 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0000639 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001259 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001283 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001291 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001315 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001348 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002273 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002445 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002878 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0003487 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0004887 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0009916 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0010628 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0010831 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0010871 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0011499 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0012229 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0012416 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0012531 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0030319 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0031123 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79138 Bickerstaff brainstem encephalitis HP:0100786 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0003134 ORPHA:431329 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0003551 ORPHA:431329 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0003698 ORPHA:431329 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0000648 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0001257 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0001258 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0002540 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0003487 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0005109 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0007141 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0007178 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0008944 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0009830 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0012447 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0007158 ORPHA:454887 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0002067 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0001337 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0000743 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0003474 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0004305 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0001336 ORPHA:454887 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0030217 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0001288 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0002172 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0001332 ORPHA:454887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0002381 ORPHA:454887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0011098 ORPHA:454887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0002381 ORPHA:454887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0002354 ORPHA:454887 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0100022 ORPHA:454887 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0000708 ORPHA:454887 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0000726 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0002304 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0002451 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0045084 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0007301 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454887 Corticobasal syndrome HP:0001300 ORPHA:454887 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000028 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000036 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000089 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000113 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000160 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000218 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000233 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000269 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000347 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000369 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000470 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000772 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000773 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000811 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000879 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000883 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0001195 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0001562 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0001762 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0002009 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0002089 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0002098 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0002107 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0002878 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0002984 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0002990 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0003027 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0003041 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0003309 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0003561 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000444 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0005280 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0005792 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0006495 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0008665 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0008683 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0008846 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0008897 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0009800 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0009829 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0010049 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0011341 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0040072 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3404 Ulbright-Hodes syndrome HP:0000377 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001561 ORPHA:3405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001903 ORPHA:3405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0002247 ORPHA:3405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001195 ORPHA:3405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001629 ORPHA:3405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001679 ORPHA:3405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001702 ORPHA:3405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0011100 ORPHA:3405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001789 ORPHA:3405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0001041 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0005338 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0007502 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0030350 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0032152 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0045059 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0000290 ORPHA:3406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0000306 ORPHA:3406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0000958 ORPHA:3406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0004334 ORPHA:3406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0004426 ORPHA:3406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0001061 ORPHA:3406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0005268 ORPHA:3406 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:3406 Ulerythema ophryogenesis HP:0032282 ORPHA:3406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570422 Galactose mutarotase deficiency HP:0004915 ORPHA:570422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570422 Galactose mutarotase deficiency HP:0012024 ORPHA:570422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570422 Galactose mutarotase deficiency HP:0012379 ORPHA:570422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:570422 Galactose mutarotase deficiency HP:0000518 ORPHA:570422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:570422 Galactose mutarotase deficiency HP:0001396 ORPHA:570422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570422 Galactose mutarotase deficiency HP:0001410 ORPHA:570422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:570422 Galactose mutarotase deficiency HP:0000707 ORPHA:570422 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:570422 Galactose mutarotase deficiency HP:0001508 ORPHA:570422 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:570422 Galactose mutarotase deficiency HP:0002240 ORPHA:570422 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:570422 Galactose mutarotase deficiency HP:0100806 ORPHA:570422 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3408 Upington disease HP:0002829 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3408 Upington disease HP:0003365 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3408 Upington disease HP:0003370 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3408 Upington disease HP:0006429 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3408 Upington disease HP:0010588 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3408 Upington disease HP:0030038 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000028 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000135 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000286 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000288 ORPHA:3409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000347 ORPHA:3409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000426 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000470 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000486 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000939 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000940 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0001156 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0001249 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0001773 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0002757 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0003212 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0004209 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0004322 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0005830 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000069 ORPHA:3409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000396 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000582 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0001513 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0001770 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0002808 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0005930 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0008736 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0009906 ORPHA:3409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0100490 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0002315 ORPHA:40923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0007902 ORPHA:40923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0025188 ORPHA:40923 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0000421 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0000501 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0000543 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0000618 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0000707 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0002019 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0002313 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0007052 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0007663 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0007917 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0011497 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0011505 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0011531 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0012122 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0012230 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0030329 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0030652 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0030667 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0030773 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0030786 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0040049 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0100832 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0002140 ORPHA:40923 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0002196 ORPHA:40923 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0002326 ORPHA:40923 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0025239 ORPHA:40923 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:40923 Eales disease HP:0100014 ORPHA:40923 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:3400 Aorto-ventricular tunnel HP:0011627 ORPHA:3400 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:3400 Aorto-ventricular tunnel HP:0001714 ORPHA:3400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:3400 Aorto-ventricular tunnel HP:0001635 ORPHA:3400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3400 Aorto-ventricular tunnel HP:0001654 ORPHA:3400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3400 Aorto-ventricular tunnel HP:0001679 ORPHA:3400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3400 Aorto-ventricular tunnel HP:0002616 ORPHA:3400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3400 Aorto-ventricular tunnel HP:0006704 ORPHA:3400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:3400 Aorto-ventricular tunnel HP:0030148 ORPHA:3400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0003139 ORPHA:79124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0030355 ORPHA:79124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0030782 ORPHA:79124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0040088 ORPHA:79124 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001433 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001531 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002205 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002240 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002743 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002849 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0004429 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0005403 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0012735 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0030374 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0031123 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0000016 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0000952 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001269 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001409 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001541 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001873 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001876 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001903 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002014 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002069 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002100 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002206 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002385 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002415 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002722 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002728 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002910 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0010550 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0031218 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0040223 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0100626 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0410018 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0000252 ORPHA:79124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0040089 ORPHA:79124 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0002094 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0002110 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0002113 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0002878 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0012418 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0025177 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0025179 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0025392 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0025393 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0030879 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0000822 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0000961 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0001945 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0002202 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0002789 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0012378 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0030830 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0031246 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0045051 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0001698 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0002206 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0002716 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0002829 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0003259 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0003326 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0003565 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0011227 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0012398 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0031631 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0031851 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0100749 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79126 Acute interstitial pneumonia HP:0100750 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002091 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002094 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002097 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002207 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0006510 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0025179 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0030828 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0030877 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0031996 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0004469 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0006516 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0011947 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0012418 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0031246 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0045051 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0001217 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0001824 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0001945 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002105 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002110 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0025175 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0100749 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0002656 ORPHA:79106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0002829 ORPHA:79106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0006376 ORPHA:79106 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0001169 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0001211 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0001769 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0001773 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0001831 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0002663 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0002753 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0002967 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0003025 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0003038 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0003170 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0003275 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0004279 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0004322 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0008800 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0008808 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0009803 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0010305 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0011849 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79106 Eiken syndrome HP:0100671 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000158 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000202 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000316 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000348 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000407 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000518 ORPHA:79107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000618 ORPHA:79107 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000882 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0001249 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0001263 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0001268 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002015 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002571 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002650 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002721 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002808 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002983 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0004322 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0007325 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0008796 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0100613 ORPHA:79107 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0001332 ORPHA:36899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0001336 ORPHA:36899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0010531 ORPHA:36899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0045084 ORPHA:36899 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0000473 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0000716 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0000722 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0000739 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0002356 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0012075 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:36899 Myoclonus-dystonia syndrome HP:0025269 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000023 ORPHA:325345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000039 ORPHA:325345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000041 ORPHA:325345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000048 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000051 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000054 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000056 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000058 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000062 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000063 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000150 ORPHA:325345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0001197 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0010459 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0010460 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0010461 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0012244 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0030258 ORPHA:325345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0012861 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0100779 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93405 Syndactyly type 4 HP:0001161 ORPHA:93405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93405 Syndactyly type 4 HP:0001199 ORPHA:93405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93405 Syndactyly type 4 HP:0001376 ORPHA:93405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93405 Syndactyly type 4 HP:0001501 ORPHA:93405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93405 Syndactyly type 4 HP:0001770 ORPHA:93405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93405 Syndactyly type 4 HP:0001829 ORPHA:93405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93405 Syndactyly type 4 HP:0005736 ORPHA:93405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93405 Syndactyly type 4 HP:0010708 ORPHA:93405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93405 Syndactyly type 4 HP:0100490 ORPHA:93405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93406 Syndactyly type 5 HP:0001440 ORPHA:93406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93406 Syndactyly type 5 HP:0004209 ORPHA:93406 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93406 Syndactyly type 5 HP:0004691 ORPHA:93406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93406 Syndactyly type 5 HP:0006097 ORPHA:93406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93406 Syndactyly type 5 HP:0009465 ORPHA:93406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93406 Syndactyly type 5 HP:0009701 ORPHA:93406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93406 Syndactyly type 5 HP:0009882 ORPHA:93406 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93406 Syndactyly type 5 HP:0100490 ORPHA:93406 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0005916 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0001773 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0001830 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0001841 ORPHA:93403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0001852 ORPHA:93403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0004209 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0004279 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0004691 ORPHA:93403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0006097 ORPHA:93403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0009773 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0100260 ORPHA:93403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93403 Syndactyly type 2 HP:0100490 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000028 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000079 ORPHA:1695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000218 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000232 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000248 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000252 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000316 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000347 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000348 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000368 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000444 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000494 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000581 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0000767 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0002007 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0030680 ORPHA:1695 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0002650 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0002916 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0003196 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0004322 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0005280 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0005692 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0008056 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1695 Non-distal trisomy 10q HP:0100543 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93404 Syndactyly type 3 HP:0001831 ORPHA:93404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93404 Syndactyly type 3 HP:0006101 ORPHA:93404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93404 Syndactyly type 3 HP:0100490 ORPHA:93404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0001770 ORPHA:93409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0001822 ORPHA:93409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0004220 ORPHA:93409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0004704 ORPHA:93409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0009577 ORPHA:93409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0009773 ORPHA:93409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0010047 ORPHA:93409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0010880 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000776 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001539 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000107 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000568 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0006956 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001274 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001320 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0100490 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001233 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0012553 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0002089 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000280 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0005280 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000431 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000369 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000154 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000308 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001561 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0007759 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000202 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000803 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0007291 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0002280 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000175 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001188 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001838 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000377 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000256 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0002007 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000054 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001166 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001792 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0009943 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001770 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0100040 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0010344 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001837 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0002126 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001321 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0002987 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0003244 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000954 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0010511 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000324 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0007911 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000179 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000188 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001032 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0002943 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0045086 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0004935 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001629 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0002342 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001195 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000237 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0000494 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0001680 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0040019 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1692 Mosaic trisomy 1 HP:0100839 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0012735 ORPHA:140896 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0001945 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0002094 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0002098 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0002315 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0002721 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0003326 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0000819 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0001626 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0002664 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0004887 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0006528 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0011949 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0012418 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0025439 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:140896 Severe acute respiratory syndrome HP:0001919 ORPHA:140896 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0100483 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0001839 ORPHA:488232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0008619 ORPHA:488232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0001597 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0004692 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0005767 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010076 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010112 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010359 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010371 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010383 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010413 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010711 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000175 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000191 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000243 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000272 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000286 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000327 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000347 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000356 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000369 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000384 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000396 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000405 ORPHA:79113 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000413 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000506 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000582 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000750 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0001177 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0001249 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0001250 ORPHA:79113 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0001631 ORPHA:79113 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0003196 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0004322 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0005484 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0008551 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0008609 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0009738 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0009748 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0011268 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0011272 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0011968 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93402 Syndactyly type 1 HP:0001770 ORPHA:93402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93402 Syndactyly type 1 HP:0006101 ORPHA:93402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93402 Syndactyly type 1 HP:0009773 ORPHA:93402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000079 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000175 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000232 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000262 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000272 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000286 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000293 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000316 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000347 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000369 ORPHA:1699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000431 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000470 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000474 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000520 ORPHA:1699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0000574 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0001176 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0001249 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0001263 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0002023 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0002558 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0030680 ORPHA:1699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0002714 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0002750 ORPHA:1699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0002916 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0003196 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0004209 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0004322 ORPHA:1699 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0008053 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0008056 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0009738 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1699 Trisomy 12p HP:0012368 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000280 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000365 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000369 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000518 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000943 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000969 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001252 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001433 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001541 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0010729 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001263 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000023 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000077 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000238 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000486 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000519 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000572 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000639 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000648 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000967 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001009 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001250 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001251 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001257 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001310 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001336 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001537 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0001627 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0002376 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0007750 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0007957 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0009891 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0011947 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0030506 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000212 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000256 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0000348 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0002240 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0003115 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0004554 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0010442 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93400 Congenital sialidosis type 2 HP:0010808 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000028 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000164 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000219 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000233 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000252 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000486 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000527 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000540 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000574 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000675 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000708 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000729 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000750 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000954 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001249 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001252 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001508 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001518 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001631 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001643 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001852 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001999 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002119 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002719 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0004209 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0010059 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0011968 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0012758 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000023 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000059 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000160 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000175 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000286 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000316 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000322 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000341 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000343 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000348 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000368 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000378 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000455 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000463 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000482 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000490 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000664 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000691 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000938 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000960 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000998 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001212 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001363 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001653 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001680 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001741 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002000 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002020 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002092 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002360 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002553 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002783 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0003196 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0004691 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0006528 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0006579 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0009183 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0011470 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0011800 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0025116 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0025160 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0040223 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0100806 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0003207 ORPHA:51608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0004963 ORPHA:51608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0006559 ORPHA:51608 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000121 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000365 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000822 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000961 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001561 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001717 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0002098 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0002749 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0004912 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0004966 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0010512 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0010766 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0011968 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0012408 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0012457 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0025116 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0025169 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0025477 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000381 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000405 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000407 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000410 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000630 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000737 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000951 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000969 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001384 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001531 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001541 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001640 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001698 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001714 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001789 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001945 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0002013 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0002815 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0002829 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0002949 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0003836 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0003941 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0005213 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0009164 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0010639 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0012409 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0032553 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0000573 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001102 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001250 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0001297 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0002092 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0002326 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0002514 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0002647 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0003109 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0005103 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0006690 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0011344 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0011506 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0040197 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:51608 Generalized arterial calcification of infancy HP:0100758 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001647 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001650 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001655 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001663 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001718 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001907 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0004756 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0005182 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0010446 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0011636 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0011662 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0100584 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0003115 ORPHA:1686 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0000775 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001279 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001537 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001539 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001540 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001627 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001629 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001631 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001635 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001651 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001669 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001679 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001680 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001681 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001712 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001962 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0004415 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0004971 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0005301 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0006682 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0006714 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0010773 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0010866 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0011628 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0011675 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0100749 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001634 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001636 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1686 Cardiac diverticulum HP:0001643 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001999 ORPHA:487796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0410263 ORPHA:487796 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000119 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000766 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000818 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001249 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001627 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001873 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002079 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002119 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002518 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002650 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002719 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0008897 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0011877 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000023 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000047 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000122 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000126 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000154 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000219 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000252 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000316 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000319 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000322 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000341 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000343 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000365 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000368 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000414 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000431 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000454 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000465 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000486 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000494 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000508 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000577 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000582 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000648 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000664 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000687 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000689 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000924 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001004 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001182 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001250 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001263 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001272 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001305 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001344 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001371 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001643 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001845 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002465 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002553 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002714 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002721 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0003764 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0005160 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0007033 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0007655 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0007663 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0008947 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0009623 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0010804 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0011220 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0011800 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0012385 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0030084 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0045075 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0100763 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000953 ORPHA:221016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001010 ORPHA:221016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001029 ORPHA:221016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0010783 ORPHA:221016 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000164 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001041 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001510 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001518 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002164 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0004322 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0004334 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0005775 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0008070 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0100840 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0200102 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000028 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000175 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000218 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000282 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000417 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000519 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000670 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000682 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000684 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000691 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000938 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001373 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001875 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001903 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002013 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002014 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002665 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002669 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002671 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002750 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002756 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002860 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002863 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002970 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0003065 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0003189 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0003995 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0004039 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0004979 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0006443 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0006496 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0007418 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0007556 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0008066 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0008069 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0009803 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0009804 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0010049 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0010978 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0012719 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0031367 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0040288 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0100238 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0100671 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001118 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001909 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001915 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002861 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0003761 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0009700 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0200044 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001249 ORPHA:221016 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1682 Arterial dissection-lentiginosis syndrome HP:0000995 ORPHA:1682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1682 Arterial dissection-lentiginosis syndrome HP:0001269 ORPHA:1682 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1682 Arterial dissection-lentiginosis syndrome HP:0005294 ORPHA:1682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1682 Arterial dissection-lentiginosis syndrome HP:0100026 ORPHA:1682 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1681 Diprosopus HP:0000175 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1681 Diprosopus HP:0000271 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1681 Diprosopus HP:0000366 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1681 Diprosopus HP:0000478 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1681 Diprosopus HP:0000504 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1681 Diprosopus HP:0001671 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1681 Diprosopus HP:0002323 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1681 Diprosopus HP:0007703 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1681 Diprosopus HP:0008572 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1681 Diprosopus HP:0100335 ORPHA:1681 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0000154 ORPHA:93474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0000232 ORPHA:93474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0000280 ORPHA:93474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0000407 ORPHA:93474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0000501 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0000924 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0001376 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0001387 ORPHA:93474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0001659 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0001744 ORPHA:93474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0002240 ORPHA:93474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0002313 ORPHA:93474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0007957 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0008155 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0012384 ORPHA:93474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0012471 ORPHA:93474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0040129 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93474 Scheie syndrome HP:0100021 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000158 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000232 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000238 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000268 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000280 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000293 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000365 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000431 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000463 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000470 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000488 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000501 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000574 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000716 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000772 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000822 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000889 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000924 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0000940 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001000 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001249 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001252 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001263 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001376 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001510 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001522 ORPHA:93473 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001638 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001654 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001681 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001706 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0001744 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0002007 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0002028 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0002205 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0002230 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0002240 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0002313 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0002360 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0002650 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0002652 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0003275 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0003416 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0003468 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0004322 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0005280 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0005930 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0007256 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0007957 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0008155 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0009811 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0011968 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0012384 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0012471 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0040129 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0100021 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0100490 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0100729 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0100765 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93473 Hurler syndrome HP:0100790 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000252 ORPHA:468631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001999 ORPHA:468631 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000340 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001511 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001525 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002119 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002126 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002465 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002828 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0003510 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0010864 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0011344 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000028 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000047 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000122 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000125 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000160 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000278 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000308 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000315 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000319 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000368 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000426 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000431 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000520 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000543 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000582 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000601 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000609 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000733 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000964 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001250 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001257 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001260 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001272 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001274 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001276 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001302 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001321 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001339 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001363 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002059 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002079 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002247 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002360 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002487 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002518 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002539 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0004742 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0005487 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0006380 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0006466 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0006870 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0006872 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0006955 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0007165 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0007256 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0007333 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0007633 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0007843 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0008619 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0009062 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0009879 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0009905 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0010692 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0010705 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0010767 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0012110 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0012294 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0030260 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0100490 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0100702 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0100716 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0000280 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0000407 ORPHA:93476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0001376 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0001638 ORPHA:93476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0001654 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0001744 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0002230 ORPHA:93476 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0002240 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0002652 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0003416 ORPHA:93476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0003468 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0004322 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0007256 ORPHA:93476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0007957 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0012384 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0040129 ORPHA:93476 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0100765 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93476 Hurler-Scheie syndrome HP:0100790 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0003654 ORPHA:1675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0012127 ORPHA:1675 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001250 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001263 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001328 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002353 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0008947 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0010841 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000194 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000218 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000252 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000256 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000278 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000316 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000463 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000470 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000478 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000482 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000483 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000486 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000494 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000527 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000545 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000639 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000684 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000729 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000737 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001104 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001276 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001284 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001344 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001347 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001799 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002002 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002033 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002059 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002187 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002373 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002540 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002656 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002983 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0004887 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0005274 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0005280 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0006191 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0006863 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0006919 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0008872 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0009748 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0011153 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0011220 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0011344 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0012433 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0030890 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0030939 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0000040 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0000232 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0000238 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0000400 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0000639 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0000648 ORPHA:1672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0000708 ORPHA:1672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0000864 ORPHA:1672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0000975 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0001176 ORPHA:1672 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0004325 ORPHA:1672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0004326 ORPHA:1672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0004375 ORPHA:1672 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1672 Diencephalic syndrome HP:0100022 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1671 Split cord malformation type I HP:0002230 ORPHA:1671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1671 Split cord malformation type I HP:0002650 ORPHA:1671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1671 Split cord malformation type I HP:0100563 ORPHA:1671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0100950 ORPHA:71212 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0000825 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001254 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001289 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001319 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001397 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001511 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001985 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001998 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002013 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002014 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002173 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002910 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0003215 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0003508 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0006929 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0008283 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0012071 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0030781 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0030796 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0000580 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001270 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001508 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001987 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0003128 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0003234 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0008151 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0008180 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0008872 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0009830 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001639 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001644 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001657 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002605 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002913 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0006554 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0007663 ORPHA:71213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0009711 ORPHA:71213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0000501 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0000529 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0000545 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0000618 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0000622 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0000646 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0001147 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0007902 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0008014 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0011532 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0011886 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0012531 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0012803 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0030528 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0030786 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0100014 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71213 Retinal capillary malformation HP:0100832 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000817 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0001249 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002019 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002360 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0011344 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0410263 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000252 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000717 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000718 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000712 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002066 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002136 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002376 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002719 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0008947 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0010832 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0011968 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0030051 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000256 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000713 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000729 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0001250 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0001344 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002133 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002141 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002307 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002312 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002317 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002515 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0004305 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279882 Spasmus nutans HP:0000473 ORPHA:279882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:279882 Spasmus nutans HP:0000639 ORPHA:279882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:279882 Spasmus nutans HP:0100022 ORPHA:279882 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0000009 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0000572 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0002529 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0003474 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0010550 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0011096 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0012486 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0030057 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0100653 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0200026 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0012443 ORPHA:71211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0002018 ORPHA:71211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0002878 ORPHA:71211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0012229 ORPHA:71211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0100247 ORPHA:71211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0011995 ORPHA:1677 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0030718 ORPHA:1677 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001279 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001640 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001667 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001678 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001962 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0002094 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0005110 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0005178 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0005180 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0005345 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0006707 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0011675 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0012664 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0030872 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0031665 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0031667 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001250 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0002202 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0002240 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0004757 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0012398 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:3000042 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0007183 ORPHA:255241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000486 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000508 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000580 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000602 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000639 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000648 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000712 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000998 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001250 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001252 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001257 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001260 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001263 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001332 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001347 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001508 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001629 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001639 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002073 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002104 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002151 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002415 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002490 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002928 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0007020 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0008972 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0009830 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0010864 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0100022 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000365 ORPHA:255241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001903 ORPHA:255241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001941 ORPHA:255241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0000100 ORPHA:255249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0003073 ORPHA:255249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0012597 ORPHA:255249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0001511 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0002151 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0002376 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0002572 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0004900 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0007183 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0007334 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0007430 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0008947 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0011193 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0011968 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0000107 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0001562 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0001640 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0001947 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0001970 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0007965 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0011471 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0100704 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1665 Sporadic fetal brain disruption sequence HP:0000252 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1665 Sporadic fetal brain disruption sequence HP:0000269 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1665 Sporadic fetal brain disruption sequence HP:0000834 ORPHA:1665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1665 Sporadic fetal brain disruption sequence HP:0001257 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1665 Sporadic fetal brain disruption sequence HP:0001357 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1665 Sporadic fetal brain disruption sequence HP:0002120 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1665 Sporadic fetal brain disruption sequence HP:0006887 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1665 Sporadic fetal brain disruption sequence HP:0010515 ORPHA:1665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1665 Sporadic fetal brain disruption sequence HP:0010864 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1665 Sporadic fetal brain disruption sequence HP:0011344 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0000508 ORPHA:2997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0001601 ORPHA:2997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0001611 ORPHA:2997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0002301 ORPHA:2997 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0001622 ORPHA:2997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0003510 ORPHA:2997 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0000252 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0000639 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001250 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001263 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001266 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001272 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001319 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001332 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001508 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001733 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001947 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001992 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002079 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002119 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002161 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002415 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002448 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002470 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002478 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0003206 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0003234 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0004897 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0010536 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0010967 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0011951 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0012547 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0012751 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0100704 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0030053 ORPHA:1662 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000160 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000176 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000316 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000347 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000369 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000494 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000506 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000621 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000883 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000938 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0001196 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0001511 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0001558 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0001622 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0001643 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0002089 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0002597 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0002804 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0002828 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0004331 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0004334 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0004492 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0005253 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0005267 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0005595 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0006266 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0006645 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0006710 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0007543 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0007592 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0008070 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0009924 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0010219 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0010648 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0012478 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0012745 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0025354 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0040189 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0045075 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0200041 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0200102 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000047 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000073 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000453 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000465 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0000695 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0001561 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0001631 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0001651 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0001669 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0001799 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0004388 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0004970 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0005659 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0006267 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0008244 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1662 Restrictive dermopathy HP:0100490 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1661 X-linked corneal dermoid HP:0000505 ORPHA:1661 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1661 X-linked corneal dermoid HP:0000572 ORPHA:1661 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1661 X-linked corneal dermoid HP:0000615 ORPHA:1661 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1661 X-linked corneal dermoid HP:0007957 ORPHA:1661 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0000303 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0000492 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0000508 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0000691 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0000958 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0000963 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0000966 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0000968 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0000995 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0002209 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0002231 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0002552 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0007477 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0009804 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0100797 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1660 Dermoodontodysplasia HP:0100798 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000023 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000028 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000046 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000135 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000157 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000175 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000202 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000218 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000252 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000268 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000276 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000286 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000307 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000316 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000324 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000343 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000347 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000364 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000365 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000369 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000405 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000465 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000486 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000492 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000494 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000506 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000508 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000766 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000767 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000902 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001040 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001059 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001060 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001288 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001376 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001508 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001511 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001537 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001646 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0004942 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001760 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0002089 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0002162 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0030680 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0002643 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0002650 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0002804 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0003202 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0003298 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0003422 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0003764 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0004322 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0006101 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0008065 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0008729 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0008736 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0009756 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0009760 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0009773 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0010318 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0011842 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0012718 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0100022 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0100490 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0100543 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79168 Disorder of bile acid synthesis HP:0000662 ORPHA:79168 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79168 Disorder of bile acid synthesis HP:0000707 ORPHA:79168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79168 Disorder of bile acid synthesis HP:0001080 ORPHA:79168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79168 Disorder of bile acid synthesis HP:0001392 ORPHA:79168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79168 Disorder of bile acid synthesis HP:0001396 ORPHA:79168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79168 Disorder of bile acid synthesis HP:0001892 ORPHA:79168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79168 Disorder of bile acid synthesis HP:0002630 ORPHA:79168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79168 Disorder of bile acid synthesis HP:0002748 ORPHA:79168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79168 Disorder of bile acid synthesis HP:0002910 ORPHA:79168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79168 Disorder of bile acid synthesis HP:0009830 ORPHA:79168 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000164 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000175 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000243 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000252 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000286 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000308 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000316 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000368 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000470 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000494 ORPHA:2994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000821 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000823 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0001166 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0001199 ORPHA:2994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0001249 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0001376 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0002007 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0030680 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0004322 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0004397 ORPHA:2994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0006101 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0008046 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0008499 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0008551 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0009775 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0009882 ORPHA:2994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0012368 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0100490 ORPHA:2994 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0000857 ORPHA:1667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001392 ORPHA:1667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001510 ORPHA:1667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0002652 ORPHA:1667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0004322 ORPHA:1667 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001875 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0002654 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0002910 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0003073 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0004325 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0006554 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0100255 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0000083 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0000252 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0000486 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0000821 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0000952 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001249 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001250 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001263 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001324 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001738 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001891 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001944 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001945 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001987 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001993 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0002240 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0002355 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0002719 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0002904 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0011787 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0012622 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0100827 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0410263 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001541 ORPHA:1667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001631 ORPHA:1667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0001719 ORPHA:1667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0002480 ORPHA:1667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1667 Wolcott-Rallison syndrome HP:0002902 ORPHA:1667 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000154 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000233 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000278 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000280 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000286 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000293 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000307 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000316 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000343 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000347 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000431 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000437 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000445 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000494 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000506 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000508 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000612 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000637 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001249 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001250 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001263 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001302 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001328 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001339 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001508 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001510 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002000 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002126 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002300 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002381 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002381 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002553 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002652 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0005487 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0007227 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0010529 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0011968 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0012905 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0040188 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000072 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000126 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000239 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000243 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000252 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000270 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000448 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000470 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001100 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001387 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002120 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002162 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0003189 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0010935 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0012157 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0030502 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0100308 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000465 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000482 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000588 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002326 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002650 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0009942 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0100540 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0001651 ORPHA:1666 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0001627 ORPHA:1666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0003115 ORPHA:1666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0010872 ORPHA:1666 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0001696 ORPHA:1666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0011603 ORPHA:1666 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0000069 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0001743 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0002101 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0002566 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0004414 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0011615 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0011620 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0012210 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0012243 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0000238 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0000384 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0000465 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0000772 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0001263 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0001374 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0001760 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0002245 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0002594 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0003006 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1666 Dextrocardia HP:0008771 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000047 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000175 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000278 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000368 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000582 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001249 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001837 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001999 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0002007 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0002474 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0003502 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0003799 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0004209 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0004220 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0005280 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0005793 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0008689 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0008872 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0009101 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0009246 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0011342 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0030031 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000325 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000350 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000402 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000463 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000475 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000494 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000574 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000599 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000664 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001290 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001513 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001763 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001773 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0002015 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0002332 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0004482 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0007477 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0008394 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0009600 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0010773 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0011648 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0012471 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0100034 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0200055 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001252 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001263 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003236 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003551 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0000252 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0000467 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0000518 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0000639 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001324 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001638 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0002093 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003327 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003388 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003394 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003403 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003546 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0006698 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0007340 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0008959 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0008997 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0009053 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0030192 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0100543 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001249 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001250 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1653 Dentin dysplasia HP:0000682 ORPHA:1653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1653 Dentin dysplasia HP:0006482 ORPHA:1653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1653 Dentin dysplasia HP:0011001 ORPHA:1653 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1653 Dentin dysplasia HP:0100777 ORPHA:1653 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0000083 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0000092 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0000093 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0000097 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0000114 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0000117 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0000121 ORPHA:1652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0000518 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0000787 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0000790 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0001252 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0001256 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002027 ORPHA:1652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002150 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002653 ORPHA:1652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002663 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002748 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002757 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002814 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002749 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002752 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002753 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0003355 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0003236 ORPHA:1652 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0002979 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0003013 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0010580 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0003020 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0003025 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0003029 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0003076 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0003109 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0003126 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0003149 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0031415 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0005576 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0005574 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0012622 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0008732 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1652 Dent disease HP:0011342 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000465 ORPHA:2988 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000248 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000316 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000368 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000508 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000537 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000582 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0001249 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0001290 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0002553 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0006247 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0009623 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0009662 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0009836 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0025537 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0025538 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2989 Familial pterygium of the conjunctiva HP:0000478 ORPHA:2989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2989 Familial pterygium of the conjunctiva HP:0000504 ORPHA:2989 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2989 Familial pterygium of the conjunctiva HP:0007759 ORPHA:2989 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0000561 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0000822 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0001635 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0001650 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0001653 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0001714 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002097 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002155 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002170 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002216 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002223 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002289 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002671 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0003124 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0004382 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0004414 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0008070 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002616 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0001677 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0006739 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0006766 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0011040 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0012397 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0030445 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0100324 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0100578 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0100678 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0000962 ORPHA:79151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0008404 ORPHA:79151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0025092 ORPHA:79151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0025114 ORPHA:79151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0025512 ORPHA:79151 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0001820 ORPHA:79151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0007530 ORPHA:79151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0200035 ORPHA:79151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0200043 ORPHA:79151 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0001798 ORPHA:79151 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0001036 ORPHA:79151 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0100792 ORPHA:79151 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79152 Disseminated superficial actinic porokeratosis HP:0200044 ORPHA:79152 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79152 Disseminated superficial actinic porokeratosis HP:0000992 ORPHA:79152 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79152 Disseminated superficial actinic porokeratosis HP:0000989 ORPHA:79152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79152 Disseminated superficial actinic porokeratosis HP:0002860 ORPHA:79152 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0008404 ORPHA:79153 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0001598 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0001803 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0001807 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0001808 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0001816 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0100798 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0100803 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0002232 ORPHA:79153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0008399 ORPHA:79153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0100797 ORPHA:79153 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0001045 ORPHA:79153 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0001047 ORPHA:79153 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0001973 ORPHA:79153 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0008064 ORPHA:79153 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0011034 ORPHA:79153 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79153 Idiopathic trachyonychia HP:0012531 ORPHA:79153 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000252 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000301 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000347 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000363 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000369 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000405 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000407 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000413 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000494 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000538 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000581 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000601 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000674 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000683 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000684 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000689 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000767 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000824 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0001245 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0001508 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0001518 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0001773 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0001831 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0001852 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0002705 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0002750 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0002751 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0004322 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0006143 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0006184 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0007481 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0000286 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0009381 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0010049 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0010487 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0010765 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0011069 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0012428 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0012725 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0012810 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0030842 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2980 Acrootoocular syndrome HP:0001249 ORPHA:2980 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0001298 ORPHA:79155 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0004365 ORPHA:79155 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0000733 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0000958 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0001249 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0001263 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0001276 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0001649 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0001942 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0001947 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0002315 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0002615 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0005957 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0008527 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0010280 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0001259 ORPHA:79155 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79155 Hydroxykynureninuria HP:0002448 ORPHA:79155 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1659 Dermatoleukodystrophy HP:0000962 ORPHA:1659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1659 Dermatoleukodystrophy HP:0001072 ORPHA:1659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1659 Dermatoleukodystrophy HP:0001249 ORPHA:1659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1659 Dermatoleukodystrophy HP:0001315 ORPHA:1659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1659 Dermatoleukodystrophy HP:0001347 ORPHA:1659 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1659 Dermatoleukodystrophy HP:0012639 ORPHA:1659 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome HP:0001249 ORPHA:79156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome HP:0002123 ORPHA:79156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome HP:0003355 ORPHA:79156 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0000963 ORPHA:1658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0000966 ORPHA:1658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0000988 ORPHA:1658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0001056 ORPHA:1658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0001072 ORPHA:1658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0007477 ORPHA:1658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0008066 ORPHA:1658 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0009775 ORPHA:1658 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0100490 ORPHA:1658 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000046 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000135 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000233 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000271 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000322 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000368 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000470 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000490 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000664 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0001249 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0002162 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0002714 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0002808 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0002857 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0003196 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0003298 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0004349 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0006610 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0008551 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0008625 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0008736 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0010306 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0010720 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000164 ORPHA:1657 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000491 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000662 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000677 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000940 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000944 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001155 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001156 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001597 ORPHA:1657 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001760 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001810 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001945 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0002650 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0002758 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0002797 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0002829 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0003019 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0008065 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0008368 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0008391 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0200042 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0000964 ORPHA:1656 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0000969 ORPHA:1656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0000989 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0001025 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0001935 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0002024 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0002653 ORPHA:1656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0002757 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0002960 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0008066 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0010783 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0012733 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0100725 ORPHA:1656 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1656 Dermatitis herpetiformis HP:0200037 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0003215 ORPHA:79159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0003234 ORPHA:79159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0045045 ORPHA:79159 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0000750 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0001252 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0001642 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0001644 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0001944 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0002013 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0011342 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0012734 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0000561 ORPHA:2985 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0001249 ORPHA:2985 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0002223 ORPHA:2985 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0000252 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0000320 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0000444 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0000501 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0045075 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0000963 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0008070 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0001387 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0001508 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0001510 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0001596 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0002478 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0004322 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0004325 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0004423 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0008070 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0009745 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2985 Pseudoprogeria syndrome HP:0011832 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000023 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000028 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000126 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000130 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000148 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000218 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000219 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000316 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000319 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000347 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000369 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000455 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000470 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000494 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000774 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000998 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001090 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001162 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001290 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001399 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001433 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001541 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001561 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001629 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001744 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0002119 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0002240 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0002901 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0003075 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0003270 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0005469 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0005989 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0006273 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0006521 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0008897 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0009085 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0011027 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0011800 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0012210 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000054 ORPHA:1655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0002243 ORPHA:1655 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001029 ORPHA:221008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001118 ORPHA:221008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000028 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000164 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000519 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000953 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001009 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001010 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001041 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001510 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001518 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002164 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0004322 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0004334 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0005775 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0008070 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000135 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000282 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000670 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000682 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000684 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000691 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000821 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001249 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001263 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001875 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001903 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002013 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002014 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002863 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0007018 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0007418 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0007556 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0008066 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0008069 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0008209 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0009804 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0010978 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0012719 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0020110 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0031367 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0040288 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0100671 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0100840 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0200102 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000938 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001909 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001915 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002669 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002671 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002750 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002860 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002861 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002970 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0003065 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0003761 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0003995 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0004039 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0004979 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0006443 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0009700 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0009803 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0010049 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0200044 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0000668 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001260 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001347 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002066 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002380 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002395 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002497 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002500 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0000252 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0000666 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001257 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001310 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001337 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002072 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002169 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002359 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0003487 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0003693 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0004322 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0011096 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0025357 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0030187 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001256 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001263 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002080 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002317 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0007256 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0030051 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0000473 ORPHA:397946 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001272 ORPHA:397946 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002059 ORPHA:397946 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0007663 ORPHA:397946 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0009830 ORPHA:397946 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0010848 ORPHA:64280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0011147 ORPHA:64280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0000980 ORPHA:64280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0007018 ORPHA:64280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0000716 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0000739 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0001249 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0001328 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0002069 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0002373 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0002883 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0007738 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0010522 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0010794 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0011150 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0012433 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0030218 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0031469 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0000020 ORPHA:64280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0006961 ORPHA:64280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:64280 Childhood absence epilepsy HP:0045084 ORPHA:64280 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0001249 ORPHA:397941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0001263 ORPHA:397941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0001999 ORPHA:397941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0008947 ORPHA:397941 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000316 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000369 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000400 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000494 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0001256 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0001956 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0002465 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0012301 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0012443 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000219 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000268 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000272 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000307 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000319 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000322 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000331 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000431 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000445 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000448 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000470 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000540 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000708 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000717 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000768 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000973 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0001250 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0001321 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0001382 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0002007 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0002136 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0002342 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0002591 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0003186 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0004523 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0010801 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0010814 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0010864 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0045075 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000276 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000286 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0000527 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0002322 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0004209 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0004691 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0005469 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0007165 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0007565 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0012471 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:397941 MAN1B1-CDG HP:0012472 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0000077 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0000083 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0000522 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0000545 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0000615 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0000648 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0000708 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0000822 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0000966 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0000975 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0001063 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0001100 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0001250 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0001251 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0001252 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0001265 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0001278 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0001288 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0001510 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0001649 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0002020 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0002047 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0002103 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0002205 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0002585 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0002650 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0002757 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0002797 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0002902 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0003457 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0007328 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0007957 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0008872 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0009830 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0010885 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0100820 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1764 Familial dysautonomia HP:0200020 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000028 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000047 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000508 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000767 ORPHA:1762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0001288 ORPHA:1762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0001387 ORPHA:1762 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0002167 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0002750 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0002916 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0004299 ORPHA:1762 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0004322 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0010864 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000232 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000286 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000581 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0001263 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0010804 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1762 Proximal Xq28 duplication syndrome HP:0011344 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0003474 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0003560 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001761 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0009053 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0100543 ORPHA:459033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0002442 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0010522 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0000736 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001513 ORPHA:459033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001009 ORPHA:459033 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0007141 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0002751 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0000570 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001260 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001251 ORPHA:459033 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0000657 ORPHA:459033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0009830 ORPHA:459033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001332 ORPHA:459033 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0002172 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001780 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0008955 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000098 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000158 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000179 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000276 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000280 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000293 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000303 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000337 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000400 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000445 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000830 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000845 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000870 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000975 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0001072 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0001176 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0001182 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0001386 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0001769 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0001869 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0002758 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0002829 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0003859 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0004099 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0006191 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0012378 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000044 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000141 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000164 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000664 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000687 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000716 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000739 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000819 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000822 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0001231 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0001609 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0002007 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0002076 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0002230 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0002808 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0002893 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0003401 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0003416 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0006767 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0008388 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0010535 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0011760 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0012802 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0100021 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0100540 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0100607 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0100829 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000802 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0000956 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0001639 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0001653 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0007440 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0100518 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314769 Somatomammotropinoma HP:0100786 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0000014 ORPHA:247604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0000763 ORPHA:247604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0001257 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0001285 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0001324 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0001347 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0002015 ORPHA:247604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0002064 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0002127 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0002141 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0002193 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0002371 ORPHA:247604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0002464 ORPHA:247604 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0003202 ORPHA:247604 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247604 Juvenile primary lateral sclerosis HP:0007256 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0000662 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0000939 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0000952 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0000989 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001080 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001394 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001508 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001744 ORPHA:79301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001892 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001928 ORPHA:79301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0002024 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0002239 ORPHA:79301 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0002240 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0002910 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0006566 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0009830 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0000478 ORPHA:1766 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0000486 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0000504 ORPHA:1766 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0000518 ORPHA:1766 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0001249 ORPHA:1766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0001250 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0001251 ORPHA:1766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0001252 ORPHA:1766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0001288 ORPHA:1766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0001347 ORPHA:1766 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0003202 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0004322 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0100021 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1766 Dysequilibrium syndrome HP:0100022 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0000952 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0001394 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0001396 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0001399 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0001408 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0001433 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0002630 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0002904 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0003155 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0031956 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0031964 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0100508 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000093 ORPHA:1765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000112 ORPHA:1765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000486 ORPHA:1765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000691 ORPHA:1765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000708 ORPHA:1765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000790 ORPHA:1765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0001511 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0002983 ORPHA:1765 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0002986 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0003031 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0003067 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0004322 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0006501 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0007957 ORPHA:1765 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0008845 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002904 ORPHA:79303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0012379 ORPHA:79303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0200084 ORPHA:79303 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0000952 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0001396 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0001397 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0001399 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0001508 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0001978 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002240 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002570 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002630 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002908 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002910 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0003155 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0003256 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0003645 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0006579 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0008151 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0008897 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0025435 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0030984 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0040319 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0100513 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0000107 ORPHA:79303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002748 ORPHA:79303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0011040 ORPHA:79303 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0001067 ORPHA:252183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0007470 ORPHA:252183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0009732 ORPHA:252183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0012645 ORPHA:252183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0100698 ORPHA:252183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0001291 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0003406 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0003416 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0006751 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0006851 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0009735 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0000256 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0000403 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0002584 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0002751 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0005220 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0007524 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0007576 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0009593 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0011801 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0012289 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0012440 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0100010 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0100013 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0100527 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0100551 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0000995 ORPHA:252183 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:252183 Neurofibroma HP:0010609 ORPHA:252183 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0003150 ORPHA:35706 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0011021 ORPHA:35706 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0000960 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0001254 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0001263 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0001328 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0001508 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0001993 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0002500 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0002518 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0002919 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0003530 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35706 Glutaric acidemia type 3 HP:0100710 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002104 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002240 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002376 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002483 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002883 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003348 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003481 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003737 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0004885 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0007108 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0012469 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0031434 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0031546 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0100611 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003200 ORPHA:255210 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003572 ORPHA:255210 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000816 ORPHA:255210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002490 ORPHA:255210 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000580 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000597 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001250 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001251 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001257 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001276 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001324 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001332 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001508 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002066 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002069 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002072 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002123 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002151 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002572 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003648 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0007141 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0007183 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0008947 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0011344 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0100660 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000091 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000407 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000510 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000639 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000648 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001265 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001347 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001399 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001639 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001644 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001945 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002015 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002045 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002094 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0000716 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0000726 ORPHA:178509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0000741 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0000751 ORPHA:178509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0001300 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0001337 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0001824 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0002071 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0002360 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0002615 ORPHA:178509 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:178509 Perry syndrome HP:0007110 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency HP:0001250 ORPHA:35701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency HP:0001939 ORPHA:35701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency HP:0001943 ORPHA:35701 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001249 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001257 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001263 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001344 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001347 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0002079 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0002465 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0003487 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0005484 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0007256 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0012448 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0000238 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0000577 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0000666 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001647 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001760 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0002059 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0007703 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000256 ORPHA:357001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0001999 ORPHA:357001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0011220 ORPHA:357001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000276 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000463 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000486 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000494 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000767 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0001249 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0001263 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0007018 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0012719 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000158 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000160 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000218 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000219 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000248 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000268 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000272 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000286 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000316 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000319 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000369 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000400 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000490 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000527 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000609 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000639 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000648 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0000957 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0001250 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0001763 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0001852 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0001869 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0002013 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0002014 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0002027 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0003196 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0003396 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0005280 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0007099 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0007333 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0007371 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0010880 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0011968 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0030084 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357001 19p13.13 microdeletion syndrome HP:0100807 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0000817 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001251 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001256 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001260 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001263 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001310 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001332 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001347 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002061 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002079 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002080 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002355 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002421 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0006808 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0006895 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0007153 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0007281 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0009062 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0030890 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0000252 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002013 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002151 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002506 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0007024 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0007179 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0007359 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0000639 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002027 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002019 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0012378 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002239 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0012174 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002024 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0001824 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0000739 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0007018 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0000708 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0000716 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0001276 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002516 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0000737 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002076 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0001252 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002017 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0100743 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0001250 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0007256 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0012113 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0010524 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0100576 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002671 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0100835 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0100571 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002376 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0001260 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0010526 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0100660 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0001371 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0001288 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0000738 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0004374 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0001402 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002354 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002894 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0010622 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0100031 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0003006 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002167 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0100615 ORPHA:440437 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0006725 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0003401 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0002893 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0010786 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0001123 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0000505 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0010784 ORPHA:440437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0012126 ORPHA:440437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0100013 ORPHA:440437 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0100273 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:440437 Familial colorectal cancer Type X HP:0009726 ORPHA:440437 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000028 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000175 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000190 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000202 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000218 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000232 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000316 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000347 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000348 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000368 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000411 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000431 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000470 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0000582 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0001156 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0001263 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0001328 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0001387 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0002475 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0030680 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0002916 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0006191 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0008736 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0010751 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0100335 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0100490 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0100627 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0100818 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0010297 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1752 Trisomy 8q HP:0012062 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0001508 ORPHA:35710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0001824 ORPHA:35710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0001944 ORPHA:35710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0002014 ORPHA:35710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0003228 ORPHA:35710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0003270 ORPHA:35710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0004395 ORPHA:35710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0000083 ORPHA:35710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0000787 ORPHA:35710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0002013 ORPHA:35710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0003072 ORPHA:35710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0030143 ORPHA:35710 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0000790 ORPHA:35710 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:35710 Glucose-galactose malabsorption HP:0001945 ORPHA:35710 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0000921 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0001651 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0001702 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0002093 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0002240 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0002435 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0002566 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0007477 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0100490 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0100555 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0100563 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1759 Thoraco-abdominal enteric duplication HP:0100867 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1757 Fibular dimelia-diplopodia syndrome HP:0009556 ORPHA:1757 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1757 Fibular dimelia-diplopodia syndrome HP:0000271 ORPHA:1757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1757 Fibular dimelia-diplopodia syndrome HP:0030736 ORPHA:1757 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0000028 ORPHA:1756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0000036 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0000073 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0000078 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0001539 ORPHA:1756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0002414 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0002475 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0003422 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0003762 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0005107 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0008678 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0009791 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0100561 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0100589 ORPHA:1756 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1756 Caudal duplication HP:0100668 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35737 Morning glory disc anomaly HP:0000486 ORPHA:35737 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35737 Morning glory disc anomaly HP:0000518 ORPHA:35737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35737 Morning glory disc anomaly HP:0000541 ORPHA:35737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35737 Morning glory disc anomaly HP:0000588 ORPHA:35737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35737 Morning glory disc anomaly HP:0000639 ORPHA:35737 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35737 Morning glory disc anomaly HP:0000646 ORPHA:35737 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35737 Morning glory disc anomaly HP:0007703 ORPHA:35737 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000093 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000280 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000943 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001371 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001433 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001873 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001903 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002086 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002205 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001263 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000100 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000158 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000648 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001072 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001265 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001344 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001387 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001627 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001631 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001635 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001639 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001643 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001649 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001882 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002092 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002098 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002159 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002540 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0003073 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0003541 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0006536 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0031123 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000105 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000238 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000286 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000293 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000470 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000506 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000509 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000527 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000629 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000639 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000768 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000998 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001252 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001552 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001653 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001655 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001928 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002514 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002652 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002938 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002942 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0003196 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0003496 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0004315 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0005180 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0005528 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0006191 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0007703 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0008454 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0010307 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0011220 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0012444 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0012448 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0012471 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0012597 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0100790 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0100806 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0100874 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0410263 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231237 Delta-beta-thalassemia HP:0001903 ORPHA:231237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231237 Delta-beta-thalassemia HP:0001935 ORPHA:231237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231237 Delta-beta-thalassemia HP:0011902 ORPHA:231237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0000549 ORPHA:363710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002396 ORPHA:363710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002527 ORPHA:363710 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0000407 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0000666 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0001288 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0001336 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0001337 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002075 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002078 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002167 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002168 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002406 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0003474 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0006855 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363710 Spinocerebellar ataxia type 37 HP:0100275 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0000256 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0000268 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0000311 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0000316 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0000411 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0000508 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0005916 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0001513 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0002007 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0002119 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0002376 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0002650 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0002916 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0004322 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0008678 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0008736 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1742 Trisomy 5p HP:0010864 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0001263 ORPHA:485350 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000708 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0001250 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002120 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002342 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002500 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0010864 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000252 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000256 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000486 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000716 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000718 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000722 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000729 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000739 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000752 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0001336 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002020 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002061 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002069 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002073 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002079 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002119 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002121 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002384 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002650 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0006970 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0007302 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0008947 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0011167 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0011193 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0011968 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0012448 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0012469 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0100704 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0100716 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000023 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000028 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000276 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000307 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0001763 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002072 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002317 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0006986 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0011800 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000079 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000089 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000126 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000160 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000233 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000307 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000347 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000369 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000426 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000470 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000486 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000499 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000508 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000518 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000581 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000639 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000958 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0000960 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0001263 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0001511 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0002007 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0002101 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0002213 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0030680 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0002916 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0004322 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0006610 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0008056 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0009896 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0009906 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0011362 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0100790 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1745 Distal trisomy 6p HP:0100818 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231242 Hemoglobin C-beta-thalassemia syndrome HP:0001744 ORPHA:231242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231242 Hemoglobin C-beta-thalassemia syndrome HP:0001903 ORPHA:231242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231242 Hemoglobin C-beta-thalassemia syndrome HP:0001935 ORPHA:231242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231242 Hemoglobin C-beta-thalassemia syndrome HP:0011902 ORPHA:231242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0000197 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0000364 ORPHA:252164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0000769 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0000834 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0001291 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0001392 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0001600 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0002011 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0002031 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0002321 ORPHA:252164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0002991 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0003489 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0009588 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0009593 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0009911 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0010628 ORPHA:252164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0010826 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0012531 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0030177 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0012533 ORPHA:252164 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0100008 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0100011 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0100582 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0100697 ORPHA:252164 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:252164 Benign schwannoma HP:0200008 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000253 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000708 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000735 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0001250 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0001252 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0001263 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0002376 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0010864 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0012171 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000347 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000400 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000486 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000666 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0001344 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0002487 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0030215 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0100716 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231249 Hemoglobin E-beta-thalassemia syndrome HP:0001903 ORPHA:231249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231249 Hemoglobin E-beta-thalassemia syndrome HP:0002721 ORPHA:231249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231249 Hemoglobin E-beta-thalassemia syndrome HP:0003281 ORPHA:231249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231249 Hemoglobin E-beta-thalassemia syndrome HP:0011902 ORPHA:231249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000316 ORPHA:363700 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000957 ORPHA:363700 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000256 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000280 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000475 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000924 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000997 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001176 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001252 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001328 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001382 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001627 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001833 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001999 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002650 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0007018 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0009088 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0009737 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0011407 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0012062 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0012758 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0030052 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0100698 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0410263 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000218 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000276 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000286 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000324 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000341 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000343 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000347 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000411 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000601 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000767 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001249 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001250 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001263 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001761 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002057 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002079 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002857 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0004322 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0006479 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0009734 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0009735 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0010794 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0012210 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0012471 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0100697 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0430022 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000126 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000238 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000246 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001028 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001629 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001631 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001634 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001639 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001642 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001653 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001655 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002315 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002751 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002992 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0003307 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0008678 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0012733 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0020035 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0030426 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0032252 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0100008 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000280 ORPHA:363705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000998 ORPHA:363705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0004540 ORPHA:363705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0100874 ORPHA:363705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000343 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000969 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000973 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001015 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001250 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001252 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001263 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001388 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001561 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001622 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001640 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001643 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001698 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002020 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002076 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002094 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002098 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002315 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0003546 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0005280 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0007517 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0030890 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0100678 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000158 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000286 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000294 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000316 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000520 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000768 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001269 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001297 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001328 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001520 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001635 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001650 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001653 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001654 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002092 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002239 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002579 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002650 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002652 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002708 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0004322 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0004532 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0004944 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0005314 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0006094 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0011220 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0011675 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0011726 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0012471 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0012568 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0100659 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0100790 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000212 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000938 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000939 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001176 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001256 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001629 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001631 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001647 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001680 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002021 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0000708 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001328 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002069 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002421 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0008947 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0010844 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0010864 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0012736 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001265 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001276 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001336 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001518 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001761 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001999 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002079 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002342 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002373 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002506 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0003196 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0004322 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0005484 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0009062 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0010818 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0011097 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0011451 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0012171 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0012447 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0012547 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0007359 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85197 Genochondromatosis type 1 HP:0000889 ORPHA:85197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85197 Genochondromatosis type 1 HP:0002815 ORPHA:85197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85197 Genochondromatosis type 1 HP:0005701 ORPHA:85197 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0000926 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0001249 ORPHA:85198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0001373 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0002514 ORPHA:85198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0002650 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0002657 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0002750 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0002751 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0002758 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0002761 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0002857 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0002879 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0002991 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0003037 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0003422 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0004039 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0004322 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0005701 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0005868 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0012221 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0100559 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0100777 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85198 Dysspondyloenchondromatosis HP:0200041 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000047 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000174 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000248 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000260 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000270 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000561 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000682 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000889 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000964 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002007 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002023 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002223 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002697 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002750 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0004397 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0004440 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0004491 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0006482 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0006660 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0008368 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0010306 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0012742 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0100589 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0200044 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000154 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000272 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000347 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000365 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000520 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0001249 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0001263 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0012471 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000175 ORPHA:85199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0001357 ORPHA:85199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002808 ORPHA:85199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85193 Idiopathic juvenile osteoporosis HP:0000939 ORPHA:85193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85193 Idiopathic juvenile osteoporosis HP:0001288 ORPHA:85193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85193 Idiopathic juvenile osteoporosis HP:0002653 ORPHA:85193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85193 Idiopathic juvenile osteoporosis HP:0002757 ORPHA:85193 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85193 Idiopathic juvenile osteoporosis HP:0002808 ORPHA:85193 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85193 Idiopathic juvenile osteoporosis HP:0002953 ORPHA:85193 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000233 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000297 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000316 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000343 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000369 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000391 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000465 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000470 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000518 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000534 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000541 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000545 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000568 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000572 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000639 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000926 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000939 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0000974 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0001249 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0001629 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0001763 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0002162 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0002942 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0003521 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0004322 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0004467 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0005108 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0005692 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0007730 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0008063 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85194 Spondylo-ocular syndrome HP:0009738 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000028 ORPHA:1738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000047 ORPHA:1738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000164 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000174 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000252 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000294 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000311 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000316 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000319 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000368 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000400 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000470 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000486 ORPHA:1738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000574 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000581 ORPHA:1738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0000670 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0001177 ORPHA:1738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0001252 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0030680 ORPHA:1738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0002650 ORPHA:1738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0002750 ORPHA:1738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0002916 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0004059 ORPHA:1738 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0004322 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0005280 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0006610 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0009738 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0010720 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0100490 ORPHA:1738 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1738 Trisomy 4p HP:0100543 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000202 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000238 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000276 ORPHA:475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000369 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000426 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000463 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000486 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000508 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000612 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000639 ORPHA:475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000657 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0000864 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001161 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001249 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001250 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001251 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001252 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001263 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001288 ORPHA:475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001320 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001337 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001696 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0001829 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0002084 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0002104 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0002126 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0002251 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0002269 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0002553 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0030680 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0002650 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0002793 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0002876 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0003312 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0004422 ORPHA:475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0007370 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:475 Joubert syndrome HP:0008872 ORPHA:475 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0000083 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0000090 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0000112 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0000766 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0000772 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0000774 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0000889 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0000944 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0001156 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0001162 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0001392 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0001770 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0001773 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0001830 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0002093 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0002644 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0002652 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0002983 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0004322 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0006703 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0007703 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0008872 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0010306 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:474 Jeune syndrome HP:0010579 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0011496 ORPHA:477 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0000164 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0000399 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0000491 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0000509 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0000572 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0000613 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0000653 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0000982 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0001097 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0001581 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0004552 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0005328 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0007431 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0007502 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0008070 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0008404 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0008625 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0011859 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0025092 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0032107 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0040189 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0045075 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0200020 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0200035 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0000966 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0001369 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0001508 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0001805 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0003765 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0005401 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0005406 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0008038 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0008897 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0011370 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0012758 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0025084 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0025610 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0030318 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0000230 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0001305 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0001320 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0001999 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0002673 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0002860 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0003065 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0006380 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0008069 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0008138 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0008788 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0009830 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0011220 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0012844 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0030839 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0031250 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0040154 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0100648 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0100806 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0100838 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:477 KID syndrome HP:0200036 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001508 ORPHA:470 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0000091 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0000093 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0000099 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0000938 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0000939 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001249 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001394 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001399 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001433 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001873 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001882 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001892 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001903 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001987 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002013 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002014 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002093 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002154 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002155 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002240 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002570 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002750 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002910 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003124 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003141 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003217 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003233 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003268 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003297 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003348 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0006517 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0008358 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0008947 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0011966 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0011968 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0012156 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0012213 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0012278 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0012523 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0025435 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0031020 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0100543 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001254 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001259 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001627 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001733 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001917 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0001970 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003218 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003281 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003532 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0005368 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0011424 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0011900 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0012280 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0012578 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0030760 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0000824 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002718 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0002756 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0003493 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0004313 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0004431 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:470 Lysinuric protein intolerance HP:0010702 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0000093 ORPHA:567548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0003073 ORPHA:567548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0003119 ORPHA:567548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0031265 ORPHA:567548 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0000097 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0000969 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0002155 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0003124 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0012579 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0100724 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0001919 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0001945 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0002027 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0002315 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0003774 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0011947 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0012590 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0031504 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0100539 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0001510 ORPHA:567548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0001967 ORPHA:567548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0002204 ORPHA:567548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0002586 ORPHA:567548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0004936 ORPHA:567548 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0000938 ORPHA:29073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0002756 ORPHA:29073 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0000100 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0000112 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0001903 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0001919 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0002152 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0002653 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0003237 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0003259 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0003324 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0004313 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0012378 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0000014 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0000098 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0001824 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0002176 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0002953 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0003072 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0003261 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0003401 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0004341 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0012719 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0001744 ORPHA:29073 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0002202 ORPHA:29073 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:29073 Multiple myeloma HP:0002716 ORPHA:29073 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000980 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0004823 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0004840 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0010972 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0011904 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0011905 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0025066 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0025547 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000164 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000939 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000953 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001510 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001531 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001744 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001971 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001978 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0002094 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0002240 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0002857 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0006487 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0009004 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0011031 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0011842 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0011968 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000582 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000737 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000819 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000821 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000823 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000829 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000952 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001394 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001395 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001433 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001644 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001722 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001954 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0002007 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0002014 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0002829 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0004936 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0005280 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0010620 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0031035 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0040075 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0200042 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0430028 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0000846 ORPHA:231214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0001402 ORPHA:231214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231214 Beta-thalassemia major HP:0011675 ORPHA:231214 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000969 ORPHA:567546 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012592 ORPHA:567546 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000097 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000282 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0003073 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0003077 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0010741 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012378 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012622 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0100540 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0100724 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000034 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000822 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0002027 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0002094 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0002907 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0003774 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0011947 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012393 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012579 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0001541 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0002202 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0002204 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0004420 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0004431 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0004936 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012050 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012587 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0000571 ORPHA:527497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0000639 ORPHA:527497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001251 ORPHA:527497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0007256 ORPHA:527497 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001260 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001263 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001290 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001332 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001347 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002191 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002355 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002415 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002599 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0003429 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0007704 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0030890 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0000486 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001007 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001250 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001272 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002059 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002650 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001249 ORPHA:527497 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002079 ORPHA:527497 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0012534 ORPHA:527497 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000093 ORPHA:567544 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000083 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000100 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000822 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0004431 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0005421 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0045042 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000099 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000155 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000988 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0001369 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0001919 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0001966 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0002907 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0003259 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0012576 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0045073 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0100769 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000707 ORPHA:567544 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0002715 ORPHA:567544 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0002960 ORPHA:567544 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0020151 ORPHA:567544 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002668 ORPHA:29072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0006737 ORPHA:29072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0006748 ORPHA:29072 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000093 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000096 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000740 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001069 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001095 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001342 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001618 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001824 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001962 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002018 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002331 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002574 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002640 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002864 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0003072 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0003345 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0003574 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0003639 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0008629 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0010532 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0011703 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0011979 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0012378 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0031284 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0100749 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000405 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000790 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000980 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001293 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001337 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001605 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001635 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0003528 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0005584 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0009711 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0012222 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0025269 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000526 ORPHA:29072 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0000256 ORPHA:459074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0000337 ORPHA:459074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0001274 ORPHA:459074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0000316 ORPHA:459074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0001256 ORPHA:459074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0001357 ORPHA:459074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0007099 ORPHA:459074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0000324 ORPHA:459074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0002197 ORPHA:459074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0006889 ORPHA:459074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000126 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000175 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000252 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000275 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000286 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000316 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000319 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000347 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000348 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000365 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000445 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000457 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000494 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000508 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000600 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000717 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000722 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000733 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000739 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0000750 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0001249 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0001250 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0001252 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0001263 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0001510 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0001611 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0001629 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0001636 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0001669 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0002167 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0002650 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0004383 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0007018 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0008661 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0009908 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0010515 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0010978 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0011611 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0011800 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1727 22q11.2 duplication syndrome HP:0100627 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001250 ORPHA:459070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001999 ORPHA:459070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0010864 ORPHA:459070 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000028 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000252 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000303 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000400 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000717 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000750 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001251 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001321 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001344 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001510 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002020 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002650 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002655 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0008947 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0040080 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000023 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000047 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000160 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000219 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000232 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000268 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000276 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000286 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000308 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000319 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000337 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000343 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000369 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000407 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000411 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000510 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000545 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000577 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000823 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000939 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000954 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000960 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001007 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001182 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001561 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001601 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001629 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001631 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001770 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002069 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002373 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002540 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002719 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0004209 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0004415 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0005750 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0006698 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0008734 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0009381 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0010818 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0012032 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0012811 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0031535 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0007359 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0045025 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0008947 ORPHA:1724 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000278 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0002143 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0007483 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0007535 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0011342 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0012450 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0200021 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000028 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000077 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000085 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000175 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000347 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000365 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000472 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000486 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000582 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000750 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0000774 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0001260 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0001270 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0001328 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0001511 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0001629 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0001633 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0002650 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0002808 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0002948 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0002949 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0003416 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0003422 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0004484 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0006394 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0006610 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0001252 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0030084 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0030732 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0410030 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1724 Mosaic trisomy 20 HP:0001249 ORPHA:1724 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000327 ORPHA:79345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003196 ORPHA:79345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0009882 ORPHA:79345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0012379 ORPHA:79345 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000410 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000455 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000457 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000925 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001857 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002000 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003508 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008420 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008897 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010655 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010666 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000919 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001742 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002099 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002205 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002341 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002643 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002777 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002787 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002789 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002871 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002947 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003316 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003320 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003416 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003417 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003467 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0004695 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0004887 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008417 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008434 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008445 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008469 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008754 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0009107 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0009928 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010171 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010255 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010646 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001263 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0025426 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:3000052 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000518 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000609 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001629 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001631 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001643 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002020 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0004415 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0007766 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0011968 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010880 ORPHA:79345 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0002027 ORPHA:469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0012545 ORPHA:469 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0001510 ORPHA:469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0002014 ORPHA:469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0002018 ORPHA:469 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0000083 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0000952 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0001069 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0001942 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0002013 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0002019 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0002148 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0002149 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0002240 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0002918 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0003256 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0003270 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0012051 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0012622 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0100626 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0000518 ORPHA:469 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0001250 ORPHA:469 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0001254 ORPHA:469 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:469 Hereditary fructose intolerance HP:0001259 ORPHA:469 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000202 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000364 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000486 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000491 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000505 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000518 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000532 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000541 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000554 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000568 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000573 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000592 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000668 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000682 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000684 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000962 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000975 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0000988 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001000 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001053 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001231 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001249 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001250 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001252 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001257 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001263 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001288 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001537 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001595 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001596 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001597 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001635 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001804 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001810 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001821 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0001880 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0002092 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0002120 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0002383 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0002558 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0002637 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0002650 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0002797 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0003298 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0004050 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0004097 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0004322 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0004374 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0005815 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0005922 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0006101 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0006482 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0007018 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0007400 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0007850 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0007957 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0008066 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0008388 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0008402 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0010783 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0010978 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0100490 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0100543 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0100555 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0100585 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0200042 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464 Incontinentia pigmenti HP:0200043 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0003642 ORPHA:79326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0012379 ORPHA:79326 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0000252 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0000286 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0000431 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0000494 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0000518 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0000565 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0000612 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0000707 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0001249 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0001250 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0001263 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0001928 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0001999 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0002521 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0011344 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0002079 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0002240 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0006808 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0006956 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0012469 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0012704 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0012751 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79326 ALG2-CDG HP:0030890 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001249 ORPHA:79327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001250 ORPHA:79327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001252 ORPHA:79327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001263 ORPHA:79327 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0000253 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0000478 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0000486 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0000924 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001256 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001871 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001999 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0002028 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0002650 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0003073 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0011024 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0011344 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0410263 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0000077 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0000083 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0000100 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0000639 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001272 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001376 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001410 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001627 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0001638 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0002059 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0002243 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0002719 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0002721 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0002808 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0002878 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79327 ALG1-CDG HP:0100806 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001249 ORPHA:79328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001250 ORPHA:79328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001263 ORPHA:79328 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000253 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001252 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001627 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001698 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002240 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002652 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0003186 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000105 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000126 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000154 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000193 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000219 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000248 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000260 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000270 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000308 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000316 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000319 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000343 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000347 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000368 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000369 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000430 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000444 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000470 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000473 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000474 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000506 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000520 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000565 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000586 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000737 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000813 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0000998 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001272 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001347 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001405 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001407 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001539 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001558 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001562 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001629 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001631 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001762 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001789 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002007 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002013 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002014 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002020 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002059 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002061 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002089 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002099 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002101 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002162 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002265 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0002557 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0003015 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0003026 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0003196 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0003375 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0005133 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0005180 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0005280 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0005343 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0005487 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0007385 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0008724 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0008776 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0008905 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0009004 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0009125 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0009487 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0010763 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0011103 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0011473 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0011849 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0012448 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0012704 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0030215 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0032464 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0001234 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79328 ALG9-CDG HP:0100865 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0011854 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0012233 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0100310 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0007420 ORPHA:465 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0001934 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0004846 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040228 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040230 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040245 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040248 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040249 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0000132 ORPHA:465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0001622 ORPHA:465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0001933 ORPHA:465 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0005268 ORPHA:465 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0000421 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0002170 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0002239 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0006298 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0011891 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0030657 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040184 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0001058 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0001685 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0005261 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001263 ORPHA:79329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001999 ORPHA:79329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0003655 ORPHA:79329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000253 ORPHA:79329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001250 ORPHA:79329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001252 ORPHA:79329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001508 ORPHA:79329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000194 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000268 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000316 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000358 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000363 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000368 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000395 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000444 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000494 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000527 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000678 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000767 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000818 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0000938 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001007 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001156 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001290 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001627 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001629 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001643 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001789 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001892 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001929 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001965 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0002020 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0002098 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0002521 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0002557 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0002578 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0002650 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0002808 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0003186 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0003347 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0003540 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0004313 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0004315 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0005387 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0009765 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0010990 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0011471 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0011675 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0011968 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0012171 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0012444 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0012469 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0031381 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0200117 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0500173 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0001321 ORPHA:79329 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79329 MGAT2-CDG HP:0009830 ORPHA:79329 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001250 ORPHA:505237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0010864 ORPHA:505237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000218 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000219 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000248 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000252 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000276 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000278 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000343 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000365 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000369 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000400 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000426 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000445 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000470 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000494 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000527 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000637 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000960 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001182 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001187 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001263 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001290 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001344 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001508 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001511 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001762 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001845 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002119 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002540 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002553 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002650 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0003121 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0004322 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0004325 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0005469 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0007370 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0011304 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0011968 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000028 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000729 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001166 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001251 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001257 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001276 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001629 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001631 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001770 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002120 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002510 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0008772 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0012450 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0100021 ORPHA:505237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000939 ORPHA:231222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0010972 ORPHA:231222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0011904 ORPHA:231222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0025066 ORPHA:231222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000924 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000952 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000980 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001978 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0002659 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0004349 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0011031 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0012132 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0045048 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0100724 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0200042 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000114 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000938 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001081 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001392 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001410 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001433 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001626 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001722 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001744 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001974 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0002092 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0002240 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0012465 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000135 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000819 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000821 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000829 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0000846 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001394 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0001402 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231222 Beta-thalassemia intermedia HP:0002176 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001511 ORPHA:1708 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001518 ORPHA:1708 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001622 ORPHA:1708 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001627 ORPHA:1708 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0000047 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0000085 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0000119 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0000750 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0000765 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001159 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001195 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001263 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001629 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001631 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001643 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0002011 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0002089 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0004484 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0006267 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0009800 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0011024 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0011471 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0030084 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0100555 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0000154 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0000365 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0000366 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0000954 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001250 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001545 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0001680 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0002088 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0002245 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0003319 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0005587 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0005773 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0009778 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0011470 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0011640 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0012372 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0031703 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1708 Mosaic trisomy 16 HP:0100864 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:461 Recessive X-linked ichthyosis HP:0000028 ORPHA:461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:461 Recessive X-linked ichthyosis HP:0000717 ORPHA:461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:461 Recessive X-linked ichthyosis HP:0000958 ORPHA:461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:461 Recessive X-linked ichthyosis HP:0000962 ORPHA:461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:461 Recessive X-linked ichthyosis HP:0000966 ORPHA:461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:461 Recessive X-linked ichthyosis HP:0002167 ORPHA:461 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:461 Recessive X-linked ichthyosis HP:0007018 ORPHA:461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:461 Recessive X-linked ichthyosis HP:0007759 ORPHA:461 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:461 Recessive X-linked ichthyosis HP:0008064 ORPHA:461 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000028 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000098 ORPHA:1707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000218 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000252 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000340 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000343 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000347 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000426 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000508 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000581 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000767 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0001166 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0001249 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0001250 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0001276 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0001387 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0001539 ORPHA:1707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0002023 ORPHA:1707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0005988 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0100490 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000055 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000324 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000383 ORPHA:1707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000470 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0000494 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0001252 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0001511 ORPHA:1707 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0030680 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1707 Distal trisomy 15q HP:0002714 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0011904 ORPHA:231226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0011905 ORPHA:231226 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000980 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001971 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001978 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0004840 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0011273 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0025066 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0025547 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000164 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000737 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000819 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000821 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000823 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000829 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000939 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000952 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000953 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001394 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001395 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001433 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001510 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001531 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001744 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001954 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0002014 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0002094 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0002829 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0002857 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0004936 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0006487 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0009004 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0011031 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0011842 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0011968 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0031035 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0040075 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0200042 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0200123 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000582 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0000846 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001402 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001644 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0001722 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0002007 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0005280 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0010620 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0011675 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231226 Dominant beta-thalassemia HP:0430028 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000028 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000055 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000218 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000268 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000311 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000325 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000347 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000368 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000426 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000453 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000463 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000470 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000474 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000612 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000670 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0000767 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0001166 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0001176 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0001263 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0030680 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0003196 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0004097 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0004209 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0004622 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0006482 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0007477 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0007598 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0008736 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0010720 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0100490 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1716 Distal trisomy 18q HP:0100543 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000278 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000445 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000527 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001007 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001250 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001999 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0002720 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0002850 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0003241 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0004313 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0008947 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0012745 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000034 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000218 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000269 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000407 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000648 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000649 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000821 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0000969 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001332 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001433 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001561 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001596 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001631 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001640 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001712 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0001873 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0002079 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0002098 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0002104 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0002240 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0002286 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0002791 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0002943 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0004315 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0004463 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0007430 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0010557 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0012450 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0020110 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0031218 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0040288 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79330 MOGS-CDG HP:0100598 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000160 ORPHA:1715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000233 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000252 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000340 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000347 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000377 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000384 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000430 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000431 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000506 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000581 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000582 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0000601 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0001167 ORPHA:1715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0001256 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0001319 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0004322 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0001511 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0001760 ORPHA:1715 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0002021 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0002553 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0030680 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0002591 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0002705 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0010628 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0007018 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0008689 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0030680 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1715 Trisomy 18p HP:0011800 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0003236 ORPHA:79332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0008947 ORPHA:79332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0012301 ORPHA:79332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0012379 ORPHA:79332 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0000369 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0000431 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0000545 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0001976 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0001999 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0002910 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0003256 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0003563 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0003645 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0004855 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0005543 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0009062 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0000219 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0000238 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0000316 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0000343 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0000821 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0000969 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0001305 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0001321 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0001518 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0001622 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0001744 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0001892 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0002014 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0002240 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0003186 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0005989 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0011003 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79332 B4GALT1-CDG HP:0011123 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000154 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000252 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000316 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000325 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000337 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000347 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000365 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000368 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000494 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000600 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000717 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0000739 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0001252 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0001256 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0001260 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0001263 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0001508 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0002020 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0002079 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0002353 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0002381 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0002474 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0030680 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0002650 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0002916 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0004322 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0006482 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0007010 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0007018 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0008499 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0010529 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0010535 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0010807 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0011098 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1713 17p11.2 microduplication syndrome HP:0200136 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0000364 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0000457 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0000518 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0000656 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0000962 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0001019 ORPHA:457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0001161 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0001376 ORPHA:457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0001645 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0001829 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0001944 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0002047 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0002093 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0002205 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0007431 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0008064 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0012472 ORPHA:457 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457 Harlequin ichthyosis HP:0100716 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001873 ORPHA:54057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001923 ORPHA:54057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001937 ORPHA:54057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0002094 ORPHA:54057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0003324 ORPHA:54057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001250 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001259 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001289 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001297 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0002014 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0002027 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0002315 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0045040 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0000083 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0000093 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0000707 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0000790 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001658 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001945 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0011675 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001919 ORPHA:54057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0012101 ORPHA:54057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001252 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001508 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001954 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0002719 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0002910 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0008897 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0011968 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0012301 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0012444 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0000077 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0000253 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0000952 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001167 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001250 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001265 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001284 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001518 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001627 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001999 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0002014 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0002240 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0003236 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0007392 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0011451 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0000160 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0000278 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0000347 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0000470 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001181 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001272 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0001433 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0012157 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79333 COG7-CDG HP:0100807 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0000218 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0000347 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0000470 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0004322 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0001513 ORPHA:314795 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0001773 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0002650 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0002857 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0002967 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0002982 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0009821 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0003067 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0009816 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0003712 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0005856 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:314795 SHOX-related short stature HP:0005974 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:499 Kerion celsi HP:0001581 ORPHA:499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:499 Kerion celsi HP:0001596 ORPHA:499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:499 Kerion celsi HP:0001945 ORPHA:499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:499 Kerion celsi HP:0002076 ORPHA:499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:499 Kerion celsi HP:0002716 ORPHA:499 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:499 Kerion celsi HP:0003326 ORPHA:499 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:499 Kerion celsi HP:0011123 ORPHA:499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:499 Kerion celsi HP:0100838 ORPHA:499 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000218 ORPHA:79318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000486 ORPHA:79318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000582 ORPHA:79318 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000154 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000219 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000276 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000278 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000286 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000303 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000316 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000343 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000448 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000463 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000565 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000750 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000938 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000939 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001250 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001263 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001265 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001321 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001388 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001763 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001999 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0002013 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0002751 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0003186 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0007552 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0008936 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0009125 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0011220 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0011968 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0012448 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0100807 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000044 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000091 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000093 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000100 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000377 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000400 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000426 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000510 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000518 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000545 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000842 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000845 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000855 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000870 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001249 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001251 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001320 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001395 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001508 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001698 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001929 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001945 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001976 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0002098 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0002280 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0002828 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0002910 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0002925 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0003073 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0005562 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0008734 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0009830 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0010463 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0011443 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0011842 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0011858 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0011951 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0012509 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0012882 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0030146 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0030609 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0000926 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001004 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001305 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001639 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001681 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0001701 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0002170 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0002625 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0012050 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0031404 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79318 PMM2-CDG HP:0040238 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:493 Familial keratoacanthoma HP:0000962 ORPHA:493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:493 Familial keratoacanthoma HP:0001482 ORPHA:493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:493 Familial keratoacanthoma HP:0002664 ORPHA:493 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:493 Familial keratoacanthoma HP:0009720 ORPHA:493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:493 Familial keratoacanthoma HP:0012740 ORPHA:493 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:493 Familial keratoacanthoma HP:0200034 ORPHA:493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:493 Familial keratoacanthoma HP:0200042 ORPHA:493 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0012379 ORPHA:79319 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0001395 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0002014 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0002240 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0003073 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0003256 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0040246 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0000825 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0000969 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0001409 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0001410 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0001508 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0001929 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0001977 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0002013 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0002239 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0002243 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0004855 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0005543 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0000821 ORPHA:79319 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0000707 ORPHA:79319 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79319 MPI-CDG HP:0001249 ORPHA:79319 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:492 Proliferating trichilemmal cyst HP:0002209 ORPHA:492 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:492 Proliferating trichilemmal cyst HP:0200040 ORPHA:492 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:492 Proliferating trichilemmal cyst HP:0200042 ORPHA:492 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0007447 ORPHA:495 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0000218 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0001041 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0001072 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0001795 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0001810 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0005406 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0007404 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0007556 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0008391 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0010765 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0011370 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0012785 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0030318 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0001805 ORPHA:495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0009775 ORPHA:495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0025474 ORPHA:495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0031452 ORPHA:495 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0000044 ORPHA:494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0000175 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0000365 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0000407 ORPHA:494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0000962 ORPHA:494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0001596 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0001597 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0002143 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0002797 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0007460 ORPHA:494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0007465 ORPHA:494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0008064 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0008388 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0009775 ORPHA:494 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0100543 ORPHA:494 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0100716 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:494 Keratoderma hereditarium mutilans HP:0200034 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001249 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001257 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001258 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001263 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001310 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0002495 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0003487 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0007256 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0008944 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0000483 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0000540 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0000639 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001265 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001290 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0012511 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0030187 ORPHA:459056 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1706 Mosaic trisomy 15 HP:0000707 ORPHA:1706 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1706 Mosaic trisomy 15 HP:0001155 ORPHA:1706 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1706 Mosaic trisomy 15 HP:0001252 ORPHA:1706 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1706 Mosaic trisomy 15 HP:0002916 ORPHA:1706 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1706 Mosaic trisomy 15 HP:0004097 ORPHA:1706 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1706 Mosaic trisomy 15 HP:0100490 ORPHA:1706 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1705 Distal trisomy 14q HP:0000365 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1705 Distal trisomy 14q HP:0000501 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1705 Distal trisomy 14q HP:0001643 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1705 Distal trisomy 14q HP:0001679 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1705 Distal trisomy 14q HP:0002101 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1705 Distal trisomy 14q HP:0002916 ORPHA:1705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1705 Distal trisomy 14q HP:0004322 ORPHA:1705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1705 Distal trisomy 14q HP:0007370 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1705 Distal trisomy 14q HP:0010935 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1705 Distal trisomy 14q HP:0100543 ORPHA:1705 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0012379 ORPHA:79320 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0000707 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0001250 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0001251 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0001252 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0001508 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0011968 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0012758 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0000158 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0000316 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0000369 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0000486 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0000924 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0000952 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0001392 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0001929 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0001999 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0002243 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0002650 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0002652 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0003073 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0003256 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0003642 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0004855 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0005543 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0006118 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0040246 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0000510 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0000546 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0001156 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0001321 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0002625 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0003563 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0008373 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79320 ALG6-CDG HP:0030348 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000028 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000047 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000154 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000175 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000218 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000316 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000347 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000368 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000426 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000431 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000463 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000470 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000508 ORPHA:1703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000581 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000772 ORPHA:1703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0000774 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0001249 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0001250 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0001263 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0001508 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0002007 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0030680 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0002916 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0004397 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0007598 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0008056 ORPHA:1703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0008551 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0008736 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0100490 ORPHA:1703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1703 Mosaic trisomy 14 HP:0100559 ORPHA:1703 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0012379 ORPHA:79321 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001252 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001263 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0002060 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0002719 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0011024 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0011968 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000119 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000252 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000365 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000366 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000377 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000478 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000818 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000938 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001250 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001410 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0002086 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0002813 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0030680 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0040064 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001276 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001285 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001332 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001871 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0003186 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0012444 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0045005 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000158 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000172 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000218 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000518 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0000639 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001010 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001305 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0001638 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0002079 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0002089 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0002804 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0005871 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0009125 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0012110 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0012157 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0012305 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79321 ALG3-CDG HP:0012762 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000028 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000164 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000218 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000232 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000233 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000243 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000252 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000343 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000347 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000499 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000574 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000601 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000664 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0000774 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0001028 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0001162 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0001166 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0001231 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0001800 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0002916 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0003196 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0006610 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0008056 ORPHA:1702 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0009738 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0009906 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0100543 ORPHA:1702 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1702 Non-distal trisomy 13q HP:0100790 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001250 ORPHA:79322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0003236 ORPHA:79322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0005484 ORPHA:79322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0008947 ORPHA:79322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0012758 ORPHA:79322 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000316 ORPHA:79322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001508 ORPHA:79322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001976 ORPHA:79322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0002705 ORPHA:79322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0002910 ORPHA:79322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0004855 ORPHA:79322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0005543 ORPHA:79322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0012448 ORPHA:79322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0100321 ORPHA:79322 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000243 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000293 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000319 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000347 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000486 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000488 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000494 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000565 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000639 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0000648 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001251 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001257 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001272 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001298 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001395 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001397 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001433 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001847 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0001852 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0002014 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0002057 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0002059 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0002119 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0002123 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0002164 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0002240 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0003186 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0003241 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0003560 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0005280 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0005469 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0006380 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0006879 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0007333 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0009826 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0009830 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0010804 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0010806 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0010818 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0010819 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0011152 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0011471 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0012385 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0025404 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79322 DPM1-CDG HP:0100704 ORPHA:79322 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0003642 ORPHA:79323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0010864 ORPHA:79323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0012379 ORPHA:79323 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0008947 ORPHA:79323 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0000233 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0000242 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0000260 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0000648 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0000803 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0000824 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0000964 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0001250 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0001276 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0002119 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0002521 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0003236 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0005478 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0007965 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0008064 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0008529 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0011968 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0012704 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0025474 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0030353 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0040189 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79323 MPDU1-CDG HP:0040288 ORPHA:79323 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001622 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001762 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001792 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001852 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001873 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001988 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001999 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002020 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002079 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002119 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002162 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002389 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002650 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002910 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0003026 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0003049 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0003073 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0003146 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0004209 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0009623 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0010557 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0011327 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0011344 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0011471 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0011800 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0011849 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0012385 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0012448 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0012766 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0030353 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0100807 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0410240 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0410243 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0410263 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0410295 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0410305 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000969 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001561 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001643 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001655 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002566 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002902 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0003186 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0009124 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0011623 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0100806 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0200128 ORPHA:79324 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0012379 ORPHA:79324 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000119 ORPHA:79324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0003256 ORPHA:79324 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000253 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000750 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000759 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001249 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001252 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001508 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001929 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002011 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002194 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002205 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0002257 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0003645 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0004855 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0005543 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0006532 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0008151 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0010976 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0011968 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0040246 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0100776 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0410018 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0410242 ORPHA:79324 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000028 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000047 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000054 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000219 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000276 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000286 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000322 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000347 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000377 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000407 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000426 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000445 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000478 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000486 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0000541 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001250 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001290 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001302 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001321 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001511 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79324 ALG12-CDG HP:0001582 ORPHA:79324 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000707 ORPHA:79325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001252 ORPHA:79325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001999 ORPHA:79325 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000478 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000518 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000969 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001250 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001541 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001622 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001789 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001873 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0002902 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0002910 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0003256 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0003642 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0011024 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0011121 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001263 ORPHA:79325 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000158 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000316 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000369 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000488 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000639 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000648 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0000973 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001001 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001156 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001251 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001508 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001511 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001518 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001562 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001762 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001903 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001929 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0001976 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0002013 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0002014 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0002079 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0002119 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0002120 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0002352 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0002415 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0003186 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0005543 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0011968 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0012385 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79325 ALG8-CDG HP:0100678 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0001891 ORPHA:54028 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0002015 ORPHA:54028 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0004840 ORPHA:54028 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0012343 ORPHA:54028 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0100594 ORPHA:54028 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0000206 ORPHA:54028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0000980 ORPHA:54028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0003388 ORPHA:54028 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0000160 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0001598 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0002027 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0004396 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0010284 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0012473 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0025062 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:54028 Plummer-Vinson syndrome HP:0100825 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001875 ORPHA:486 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0002718 ORPHA:486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0004429 ORPHA:486 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0000155 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0000230 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0000704 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001581 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001888 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001945 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0002014 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0002027 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0002090 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0004798 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0005425 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0011107 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0012311 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0012384 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0025439 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0410018 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0000938 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001028 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001880 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001909 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001915 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0002863 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0003453 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0004808 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0006480 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0006721 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0025452 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0100658 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0008271 ORPHA:485 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000311 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000520 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0001367 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0001387 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0001591 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0002663 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0003037 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0003330 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0003498 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0005280 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0007773 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0007964 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0011003 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0012069 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0012785 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000175 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000365 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000541 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000926 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000947 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0003016 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0003026 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0003040 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0003051 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0003311 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0003521 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0007992 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0008063 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0009815 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0010306 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0010574 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0010580 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0010646 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0012230 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000201 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000470 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000518 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0001488 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0002949 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0003417 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0004557 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0006375 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0006454 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0008422 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0012019 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0025474 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0000256 ORPHA:485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0002086 ORPHA:485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0002176 ORPHA:485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:485 Kniest dysplasia HP:0008755 ORPHA:485 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0000790 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0001945 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0001974 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0002027 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0011227 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0012085 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0025143 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0025615 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0032169 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0100518 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0100525 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0002586 ORPHA:488 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0002664 ORPHA:488 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0010766 ORPHA:488 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0010783 ORPHA:488 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:488 Urachal cyst HP:0031500 ORPHA:488 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:482 Kimura disease HP:0001880 ORPHA:482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:482 Kimura disease HP:0002729 ORPHA:482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:482 Kimura disease HP:0003212 ORPHA:482 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:482 Kimura disease HP:0002716 ORPHA:482 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:482 Kimura disease HP:0010286 ORPHA:482 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0000029 ORPHA:481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0000144 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0000771 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0001252 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0001260 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0001265 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0001288 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0001618 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0003119 ORPHA:481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0003202 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0005978 ORPHA:481 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0100022 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:481 Kennedy disease HP:0100639 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0000365 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0000590 ORPHA:480 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0000830 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0001251 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0001252 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0001315 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0001709 ORPHA:480 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0002750 ORPHA:480 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0003200 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0003202 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0003457 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0004374 ORPHA:480 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0004622 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:480 Kearns-Sayre syndrome HP:0007703 ORPHA:480 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0000217 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0001315 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0012332 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0003403 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0009073 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0030000 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0030209 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0000315 ORPHA:43393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0000802 ORPHA:43393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0002019 ORPHA:43393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0002483 ORPHA:43393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0030357 ORPHA:43393 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0000966 ORPHA:43393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0001097 ORPHA:43393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0004926 ORPHA:43393 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:42062 Iminoglycinuria HP:0003080 ORPHA:42062 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:42062 Iminoglycinuria HP:0003108 ORPHA:42062 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:42062 Iminoglycinuria HP:0003137 ORPHA:42062 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:42062 Iminoglycinuria HP:0002154 ORPHA:42062 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:42062 Iminoglycinuria HP:0003260 ORPHA:42062 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:42062 Iminoglycinuria HP:0008358 ORPHA:42062 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000365 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000613 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000992 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0001263 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0002066 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0002180 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0100585 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0001256 ORPHA:438134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0004322 ORPHA:438134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0007763 ORPHA:438134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0031087 ORPHA:438134 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000252 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000776 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0001272 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0002664 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0010864 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33111 Granulomatous slack skin HP:0000973 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33111 Granulomatous slack skin HP:0001582 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33111 Granulomatous slack skin HP:0002665 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33111 Granulomatous slack skin HP:0010783 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33111 Granulomatous slack skin HP:0012189 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33111 Granulomatous slack skin HP:0030053 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33111 Granulomatous slack skin HP:0000121 ORPHA:33111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33111 Granulomatous slack skin HP:0001919 ORPHA:33111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33111 Granulomatous slack skin HP:0002733 ORPHA:33111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33111 Granulomatous slack skin HP:0003072 ORPHA:33111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0000718 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001252 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001298 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001324 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001508 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001533 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002059 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002133 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002151 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002167 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002169 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002194 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002353 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0003535 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0007204 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0010864 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0011925 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0031936 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0000020 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0000648 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001250 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001257 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001344 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001347 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002521 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001263 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001999 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0002209 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0004322 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0011220 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0045075 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000077 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000238 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000243 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001305 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001320 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001763 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001800 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0005280 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0007291 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0012385 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000023 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000175 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000248 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000286 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000316 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000347 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000369 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000494 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000687 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000739 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000805 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001250 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001274 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001631 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001650 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001970 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0004442 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0004482 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0007018 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0007598 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0010535 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0012712 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0030799 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0200055 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000008 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000028 ORPHA:478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000044 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000054 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000104 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000144 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000175 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000407 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000458 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000505 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000508 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000551 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000639 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000771 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000786 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000823 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0000830 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001250 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001251 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001252 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001260 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001288 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001324 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001335 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001337 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001513 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001608 ORPHA:478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001761 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0001763 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0030680 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0002652 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0002750 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0002757 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0003164 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0003187 ORPHA:478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0004349 ORPHA:478 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0004409 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0008064 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0008734 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0008736 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0009804 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0010550 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0030016 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:478 Kallmann syndrome HP:0100639 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0000083 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0000648 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001249 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001250 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001252 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001254 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001259 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001260 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001263 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001266 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001297 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001332 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001508 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001638 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001733 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001744 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001873 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001875 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001903 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001944 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001987 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002017 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002027 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002039 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002098 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002240 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002721 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0011968 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0100022 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93600 Primary hyperoxaluria type 3 HP:0000121 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93600 Primary hyperoxaluria type 3 HP:0000790 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93600 Primary hyperoxaluria type 3 HP:0003110 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93600 Primary hyperoxaluria type 3 HP:0003159 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93600 Primary hyperoxaluria type 3 HP:0008672 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93600 Primary hyperoxaluria type 3 HP:0012211 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93600 Primary hyperoxaluria type 3 HP:0012531 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93600 Primary hyperoxaluria type 3 HP:0100515 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93600 Primary hyperoxaluria type 3 HP:0100518 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0000218 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0000246 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0000286 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0000316 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0000389 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0000509 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0000988 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0001287 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0001369 ORPHA:33110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0001508 ORPHA:33110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0001581 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0001875 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0001944 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0001945 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0002014 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0002024 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0002110 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0002205 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0002719 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0002721 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0002754 ORPHA:33110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0004432 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0008572 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0012115 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0012378 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0012735 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0100658 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0100806 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33110 Autosomal agammaglobulinemia HP:0200043 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0000256 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0000708 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0001250 ORPHA:79314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0001252 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0001285 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0002071 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0002381 ORPHA:79314 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0002383 ORPHA:79314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0004375 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0006887 ORPHA:79314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0007360 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0010864 ORPHA:79314 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0000975 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001945 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002300 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0004372 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0007076 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0012332 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0000822 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001337 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001649 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001942 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001974 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002015 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002307 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0003236 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0003394 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0003781 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0012378 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0000020 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0000093 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0000713 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0000739 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001259 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001298 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001894 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001919 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001944 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002013 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002018 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002072 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002149 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002153 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002204 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002615 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002901 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002902 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002905 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002910 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002913 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002917 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0003155 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0003201 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0003228 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0010553 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0011675 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0011951 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0025145 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0025435 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0031258 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0040288 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0100735 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001662 ORPHA:94093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0001873 ORPHA:94093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0002045 ORPHA:94093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94093 Neuroleptic malignant syndrome HP:0100806 ORPHA:94093 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000002 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000013 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000026 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000027 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000028 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000054 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000118 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000134 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000164 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000175 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000316 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000716 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000739 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000771 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0006610 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000786 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000802 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000823 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000869 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0002750 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000938 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000939 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0001608 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0002231 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0002761 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0003187 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000044 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0003782 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0005280 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0008187 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0008197 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0040171 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0008527 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0008724 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0008734 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0011961 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0012385 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0030019 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0040171 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0100267 ORPHA:141291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0000271 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0001611 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0002793 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0005105 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0005216 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0005324 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0009088 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0410011 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0000419 ORPHA:141291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0000668 ORPHA:141291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:141291 Cleft lip and alveolus HP:0002015 ORPHA:141291 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0000729 ORPHA:369873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0001263 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0000842 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0001252 ORPHA:369873 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0004322 ORPHA:369873 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0001513 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0001952 ORPHA:369873 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0002354 ORPHA:369873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0012332 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0002591 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0002615 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0005307 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0100503 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0007018 ORPHA:369873 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0100543 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0011968 ORPHA:369873 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0012332 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369873 Obesity due to SIM1 deficiency HP:0012339 ORPHA:369873 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0008207 ORPHA:85138 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0008163 ORPHA:85138 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0000953 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0001324 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0001508 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0001824 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002014 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002017 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002019 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002027 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002039 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002615 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002960 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0003154 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0012378 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0000127 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0000848 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0001897 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002149 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002153 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002902 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0004319 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0005976 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0008226 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0012364 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0000823 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0000829 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0000835 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0000872 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0000958 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0001045 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0001250 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0001278 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0008209 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0001943 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002215 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002321 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002608 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0002829 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0003072 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0006462 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0008209 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0010512 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0030018 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0030083 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0100651 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0004860 ORPHA:85138 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0008720 ORPHA:85138 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85138 Addison disease HP:0100522 ORPHA:85138 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0000852 ORPHA:94090 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0002901 ORPHA:94090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0002905 ORPHA:94090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003165 ORPHA:94090 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0002199 ORPHA:94090 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0001657 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003394 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003401 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003472 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003739 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0011458 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0012049 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003456 ORPHA:94090 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003761 ORPHA:94090 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0010766 ORPHA:94090 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0030057 ORPHA:94090 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0000944 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0000969 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0000988 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0000989 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0001061 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0001369 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0001824 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0001903 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0001945 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002037 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002633 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002650 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002653 ORPHA:324964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002754 ORPHA:324964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002797 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0003468 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0003565 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0003765 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0004396 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0005464 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0005930 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0006824 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0011227 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0012378 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0100774 ORPHA:324964 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0100781 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0100847 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0000121 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0000648 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0000708 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0000712 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0000716 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0000739 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0000958 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0000964 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0001231 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0001596 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0001597 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0001635 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0002027 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0002150 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0002356 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0002516 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0002615 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0002793 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0002901 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0002905 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0002917 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0003401 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0003457 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0003473 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0004349 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0004372 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0007400 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0011675 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0012608 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:428 Autosomal dominant hypocalcemia HP:0040148 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0000127 ORPHA:427 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0000848 ORPHA:427 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0000846 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0001508 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0002153 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0002615 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0002902 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0004319 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0011106 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0001254 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0001278 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0001510 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0001942 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0001954 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0002014 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0002017 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0002049 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0011968 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:427 Familial hypoaldosteronism HP:0012364 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0000508 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0000737 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0000750 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001251 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001254 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001270 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001300 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001336 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001348 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001761 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001762 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002019 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002063 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002066 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002067 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002071 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002174 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002375 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002395 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002451 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0003487 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0003781 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0003785 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0004373 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0010553 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001252 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0011968 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0030166 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001256 ORPHA:101150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001945 ORPHA:101150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0007325 ORPHA:101150 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001290 ORPHA:101150 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002448 ORPHA:101150 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0003149 ORPHA:94088 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0003537 ORPHA:94088 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0030973 ORPHA:94088 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0000091 ORPHA:94088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0001919 ORPHA:94088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0008651 ORPHA:94088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0012211 ORPHA:94088 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0000790 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0002013 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0002018 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0002150 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0003138 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0003418 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0012213 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0012595 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94088 Hereditary renal hypouricemia HP:0012622 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0000256 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0000944 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0001156 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0001249 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0001831 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0002644 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0002650 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0002652 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0002758 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0002823 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0002970 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0002983 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0003307 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0003312 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0003416 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0005692 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0006487 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0009811 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0010535 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:429 Hypochondroplasia HP:0011405 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000852 ORPHA:94089 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0002901 ORPHA:94089 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0002905 ORPHA:94089 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003165 ORPHA:94089 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003456 ORPHA:94089 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000293 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000311 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000470 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000518 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000639 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000684 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0004322 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0005280 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0006297 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000509 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000716 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000737 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000739 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0001265 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0001657 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0002094 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003034 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003394 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003401 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003472 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003739 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003909 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0005700 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0011001 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0011458 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0012049 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0100660 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0100749 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000824 ORPHA:94089 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0002199 ORPHA:94089 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0008227 ORPHA:94089 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003761 ORPHA:94089 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0010766 ORPHA:94089 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0030057 ORPHA:94089 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0000836 ORPHA:424 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0011790 ORPHA:424 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0000853 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0001518 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0001824 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0002014 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0002378 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0008249 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0011784 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0000713 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0000752 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0001263 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0001270 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0002360 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0005616 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0000520 ORPHA:424 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0012372 ORPHA:424 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0030057 ORPHA:424 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000028 ORPHA:99776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000085 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000110 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000126 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000130 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000175 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000218 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000239 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000252 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000269 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000316 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000347 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000369 ORPHA:99776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000414 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000465 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000470 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000476 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000568 ORPHA:99776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000582 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0000601 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001195 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001249 ORPHA:99776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001263 ORPHA:99776 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001305 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001376 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001511 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001561 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001562 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001629 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001631 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001643 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001651 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001654 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001706 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001746 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001762 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001789 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001792 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001838 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0001869 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0002006 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0002101 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0002119 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0002414 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0002566 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0002650 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0002652 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0002827 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0002937 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0002983 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0003042 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0004422 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0005562 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0005815 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0006191 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0007957 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0008736 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0011027 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0012815 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0040019 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0100490 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99776 Mosaic trisomy 9 HP:0100752 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0001942 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0001945 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0002047 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0002789 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0002905 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0003552 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0004755 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0004756 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0011964 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0012416 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0031320 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0003011 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0001722 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0001919 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0002153 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0002913 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0003256 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0006554 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0006682 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0008331 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0008942 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0008978 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:0009045 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:423 Malignant hyperthermia of anesthesia HP:3000005 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:425 Apolipoprotein A-I deficiency HP:0002621 ORPHA:425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:425 Apolipoprotein A-I deficiency HP:0003119 ORPHA:425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:425 Apolipoprotein A-I deficiency HP:0003233 ORPHA:425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:425 Apolipoprotein A-I deficiency HP:0007759 ORPHA:425 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:425 Apolipoprotein A-I deficiency HP:0000622 ORPHA:425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:425 Apolipoprotein A-I deficiency HP:0000991 ORPHA:425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:425 Apolipoprotein A-I deficiency HP:0001114 ORPHA:425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:425 Apolipoprotein A-I deficiency HP:0001681 ORPHA:425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:425 Apolipoprotein A-I deficiency HP:0005181 ORPHA:425 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99771 Bifid uvula HP:0000193 ORPHA:99771 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99771 Bifid uvula HP:0008376 ORPHA:99771 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99771 Bifid uvula HP:0011819 ORPHA:99771 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99771 Bifid uvula HP:0410030 ORPHA:99771 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0000325 ORPHA:94083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0001249 ORPHA:94083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0002451 ORPHA:94083 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0000053 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0001256 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0001260 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0001288 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0002061 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0002342 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0000750 ORPHA:94083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0001250 ORPHA:94083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0002353 ORPHA:94083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94083 Partington syndrome HP:0007380 ORPHA:94083 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0000185 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0000220 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0002033 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0010863 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0011469 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0200136 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0000327 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0000403 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0000405 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0001611 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0009088 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0011219 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99772 Cleft velum HP:0011951 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0002092 ORPHA:422 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0002094 ORPHA:422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0011025 ORPHA:422 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0001279 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0001962 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0002240 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0005133 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0005180 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0012378 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0030148 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0030848 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0100749 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0010741 ORPHA:422 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0002668 ORPHA:94080 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0001069 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0001095 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0001342 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0001618 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0001824 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0001962 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0002018 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0002331 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0002574 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0002640 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0002864 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0003072 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0003345 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0003574 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0003639 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0008629 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0010532 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0011703 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0011979 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0012378 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0031284 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0100749 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0000405 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0000790 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0000980 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0001293 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0001337 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0001605 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0001635 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94080 Non-functioning paraganglioma HP:0025269 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0040317 ORPHA:94086 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0000121 ORPHA:94086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0002014 ORPHA:94086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0003072 ORPHA:94086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0004324 ORPHA:94086 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0001942 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0001988 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0002905 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0002910 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0002925 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0031507 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94086 Blue diaper syndrome HP:0031883 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000529 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000551 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0001123 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0030469 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0030474 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0030618 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000493 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000539 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000546 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000580 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000608 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0007814 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0032118 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000510 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000603 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000610 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0000662 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0001129 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0007722 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0007984 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0030528 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0030529 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85128 Bothnia retinal dystrophy HP:0007737 ORPHA:85128 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001249 ORPHA:457260 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000252 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000504 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000718 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000729 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000752 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001257 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001290 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0002136 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0100660 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000202 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000365 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000505 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000826 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001000 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001250 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001263 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001388 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001999 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0002079 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0002119 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0002539 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0002650 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0000774 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0000944 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0002240 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0002757 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0100530 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0000820 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0001252 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0001744 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0003355 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0004322 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0003159 ORPHA:416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0008672 ORPHA:416 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0000121 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0000164 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0000488 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0000543 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0000648 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0000790 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0001508 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0001942 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0002653 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0002757 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0002910 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0004417 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0005789 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0006479 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0007663 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0009830 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0011072 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0011506 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0012072 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0012622 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0012722 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0025324 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0030880 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0031981 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0100758 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0001063 ORPHA:416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0002150 ORPHA:416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0003774 ORPHA:416 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0000965 ORPHA:416 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0001638 ORPHA:416 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:416 Primary hyperoxaluria HP:0025520 ORPHA:416 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:419 Hyperprolinemia type 1 HP:0000093 ORPHA:419 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:419 Hyperprolinemia type 1 HP:0000112 ORPHA:419 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:419 Hyperprolinemia type 1 HP:0001250 ORPHA:419 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:419 Hyperprolinemia type 1 HP:0003137 ORPHA:419 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:419 Hyperprolinemia type 1 HP:0008358 ORPHA:419 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:419 Hyperprolinemia type 1 HP:0100753 ORPHA:419 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0000799 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0000819 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0000821 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0000951 ORPHA:412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0001084 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0001114 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0002240 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0001397 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0001513 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0001681 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0001735 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0001997 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0002155 ORPHA:412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0002635 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0003124 ORPHA:412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0003141 ORPHA:412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0003233 ORPHA:412 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0004943 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0004950 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0005181 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0004950 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0010874 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:412 Dysbetalipoproteinemia HP:0012397 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001347 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001987 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0011965 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0012026 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0012758 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0100543 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001249 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001254 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001258 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001289 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001290 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001328 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001410 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001508 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002038 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002073 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002120 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002169 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002240 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002370 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002495 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002572 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002789 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002910 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0003218 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0006846 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0007256 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0011098 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0011968 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0012115 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001250 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001259 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001950 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002064 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002123 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0003256 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0007052 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0000533 ORPHA:415 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001399 ORPHA:415 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0040030 ORPHA:415 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0001302 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0007360 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0008936 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0010864 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0012758 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0025100 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0030301 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0000486 ORPHA:572013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0002015 ORPHA:572013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0004305 ORPHA:572013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0033725 ORPHA:572013 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0000011 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0000324 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0000609 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0000733 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0001257 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0002827 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0012469 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0032794 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0100704 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0000529 ORPHA:414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0000533 ORPHA:414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0000545 ORPHA:414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0012026 ORPHA:414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0200065 ORPHA:414 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0000518 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0000523 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0000618 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0001103 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0001133 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0003355 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0007675 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0040031 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0000365 ORPHA:414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0001250 ORPHA:414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:414 Gyrate atrophy of choroid and retina HP:0001595 ORPHA:414 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000028 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000062 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000252 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000347 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000966 ORPHA:452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001249 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001250 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001252 ORPHA:452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001257 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001263 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001274 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001302 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001522 ORPHA:452 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001629 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001643 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001738 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0002024 ORPHA:452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0002119 ORPHA:452 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0002251 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0008736 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0011220 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284400 Small cell carcinoma of the bladder HP:0000790 ORPHA:284400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284400 Small cell carcinoma of the bladder HP:0002027 ORPHA:284400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284400 Small cell carcinoma of the bladder HP:0003072 ORPHA:284400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284400 Small cell carcinoma of the bladder HP:0009725 ORPHA:284400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284400 Small cell carcinoma of the bladder HP:0100518 ORPHA:284400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284400 Small cell carcinoma of the bladder HP:0000010 ORPHA:284400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:455 Superficial epidermolytic ichthyosis HP:0000963 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:455 Superficial epidermolytic ichthyosis HP:0000969 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:455 Superficial epidermolytic ichthyosis HP:0000982 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:455 Superficial epidermolytic ichthyosis HP:0008064 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:455 Superficial epidermolytic ichthyosis HP:0008066 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:455 Superficial epidermolytic ichthyosis HP:0100792 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:455 Superficial epidermolytic ichthyosis HP:0010783 ORPHA:455 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0000083 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0000958 ORPHA:454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0000962 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0000982 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0000989 ORPHA:454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0001581 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0002664 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0002665 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0002960 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0006775 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0008064 ORPHA:454 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0010783 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0100242 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0100326 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:454 Acquired ichthyosis HP:0200034 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome HP:0000982 ORPHA:85112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome HP:0006739 ORPHA:85112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome HP:0012245 ORPHA:85112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0011098 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0006977 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0030391 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0001268 ORPHA:240112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002465 ORPHA:240112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002549 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0009088 ORPHA:240112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0031434 ORPHA:240112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0007158 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0000511 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002527 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0000741 ORPHA:240112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0030784 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0025268 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0001300 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002312 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002015 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002172 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002381 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0030217 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002167 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0001510 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002650 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002938 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003521 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0010575 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0045060 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000280 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000470 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000926 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000939 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002808 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002857 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003180 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0009824 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0012368 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0030838 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0040194 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0100569 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000162 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000175 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000316 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000347 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000365 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000541 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000545 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0001270 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0001552 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0001760 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002176 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002515 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002795 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002996 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003026 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003097 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003306 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003418 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0004349 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0008462 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0008755 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0010585 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0030839 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0100864 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000175 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000272 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000303 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000322 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0001250 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0001252 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0001357 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0001629 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0001800 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0002714 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0009835 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000316 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0002553 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0004397 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0010185 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0010864 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000750 ORPHA:369891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001263 ORPHA:369891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001270 ORPHA:369891 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000154 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000158 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000194 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000369 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000414 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000431 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000582 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000708 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000729 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001252 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001328 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002342 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002465 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000028 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000218 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000248 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000286 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000294 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000303 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000311 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000316 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000325 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000337 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000341 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000365 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000384 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000400 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000470 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000508 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000540 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000545 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000687 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000711 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000713 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000717 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000718 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000752 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001155 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001159 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001251 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001357 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001537 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001627 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001629 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001655 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001760 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002236 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002311 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002313 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002353 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002714 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0003196 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0004322 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0005280 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0005612 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0007633 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0007700 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0010841 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0011228 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0011800 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0012385 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0030084 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0100025 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0000347 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0000448 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0000463 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0000581 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0001943 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0002612 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0003281 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0003452 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0006579 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0006709 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:446 Neonatal hemochromatosis HP:0100542 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0030272 ORPHA:447 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001878 ORPHA:447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001903 ORPHA:447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0003641 ORPHA:447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0025406 ORPHA:447 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001907 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001923 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002094 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002315 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002574 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002625 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0003138 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0004936 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0008282 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0012543 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0012622 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0020181 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0025435 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0032106 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0040303 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0100749 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0000083 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0000093 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0000802 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0000822 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0000952 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001254 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001297 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001658 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001873 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001876 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001882 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001919 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002204 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002639 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0004420 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0012132 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0030248 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0032043 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001994 ORPHA:447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002015 ORPHA:447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0003076 ORPHA:447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0025271 ORPHA:447 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000080 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000135 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000158 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000202 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000239 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000246 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000271 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000280 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000365 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000457 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000458 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000478 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000492 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000504 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000518 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000648 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000716 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000739 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000787 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000820 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000821 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000822 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000830 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0000853 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0001071 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0001249 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0001252 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0001263 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0001315 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0001537 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0001595 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0001615 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0001697 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0002019 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0002045 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0002360 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0002575 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0002615 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0003270 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0003401 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0004322 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0004491 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0005214 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0005930 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0006579 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0008188 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0008872 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0010864 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0011675 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:442 Congenital hypothyroidism HP:0100540 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:441 Pure autonomic failure HP:0000970 ORPHA:441 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:441 Pure autonomic failure HP:0001278 ORPHA:441 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:441 Pure autonomic failure HP:0012332 ORPHA:441 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:441 Pure autonomic failure HP:0012099 ORPHA:441 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:441 Pure autonomic failure HP:0025142 ORPHA:441 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:441 Pure autonomic failure HP:0000020 ORPHA:441 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:441 Pure autonomic failure HP:0001279 ORPHA:441 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:441 Pure autonomic failure HP:0002019 ORPHA:441 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:441 Pure autonomic failure HP:0100518 ORPHA:441 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:441 Pure autonomic failure HP:0000802 ORPHA:441 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000597 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0007256 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0002751 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000726 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0001300 ORPHA:99750 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0030188 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0002067 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0001268 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000719 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000496 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0004373 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0001260 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0002317 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0002527 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000657 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0006801 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0007076 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0002063 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0001337 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0031825 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0009088 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0010526 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0005329 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000643 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0025330 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0011098 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0006977 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0010522 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0004302 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:444 Marie Unna hereditary hypotrichosis HP:0001596 ORPHA:444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444 Marie Unna hereditary hypotrichosis HP:0002208 ORPHA:444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444 Marie Unna hereditary hypotrichosis HP:0002209 ORPHA:444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444 Marie Unna hereditary hypotrichosis HP:0100840 ORPHA:444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:444 Marie Unna hereditary hypotrichosis HP:0200102 ORPHA:444 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94064 Deafness-infertility syndrome HP:0000027 ORPHA:94064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94064 Deafness-infertility syndrome HP:0000407 ORPHA:94064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94064 Deafness-infertility syndrome HP:0003251 ORPHA:94064 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001531 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0002154 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0008872 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0011451 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0012279 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0012736 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0030215 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0000474 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001250 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001276 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001347 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001511 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0002079 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0009062 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0012430 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0000316 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0000340 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0000347 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0000470 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001285 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001320 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001336 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001339 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001363 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001776 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0002392 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0003121 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0005280 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0006380 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0006466 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0006956 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0007704 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0008064 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0009879 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0011097 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0011196 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0011471 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0012448 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0040288 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0200048 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001263 ORPHA:94065 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000286 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000319 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000343 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000356 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000494 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000708 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001156 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001249 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001252 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001388 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001518 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0002719 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0004322 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0008897 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0009890 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0011229 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000028 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000047 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000160 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000164 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000174 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000179 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000252 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000276 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000316 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000324 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000365 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000426 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000486 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000589 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000639 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000776 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0000824 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001172 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001508 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001513 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001627 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0001780 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0002023 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0002650 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0002808 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0005280 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0009623 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0011100 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0011968 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0012810 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0030084 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0030260 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0100790 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0200055 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94065 15q24 microdeletion syndrome HP:0002475 ORPHA:94065 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000085 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000086 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000089 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000233 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000252 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000316 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000325 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000347 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000426 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000445 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000490 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000574 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000664 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000668 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000750 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000819 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0000953 ORPHA:94063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0001252 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0001256 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0001263 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0001328 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0001337 ORPHA:94063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0001482 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0001508 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0001511 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0001743 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0002007 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0002308 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0002566 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0002650 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0002714 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0003202 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0003396 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0004209 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0004322 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0005288 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94063 12q14 microdeletion syndrome HP:0010739 ORPHA:94063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000218 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000708 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000750 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001252 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001256 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001337 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0002342 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0004322 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0025502 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000054 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000252 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000316 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000337 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000348 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000400 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000486 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000639 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000716 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000729 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000733 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000739 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000742 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000824 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000954 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001250 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001288 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001385 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001658 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0002069 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0002171 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0002206 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0002487 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0004437 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0006986 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0007033 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0008734 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0010864 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002186 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0003474 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0007158 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002067 ORPHA:240103 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0000514 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002172 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002063 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002359 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002098 ORPHA:240103 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002015 ORPHA:240103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002374 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0001260 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002354 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0000511 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002381 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0009088 ORPHA:240103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0004373 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0001337 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0000743 ORPHA:240103 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0007256 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0030217 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0045084 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0004305 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0007885 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0006961 ORPHA:240103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0001188 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0000570 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0001268 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0000751 ORPHA:240103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002548 ORPHA:240103 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0005180 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0012378 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0030718 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0031664 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0001635 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0001640 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0005150 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0010741 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0000961 ORPHA:439 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0001694 ORPHA:439 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0002094 ORPHA:439 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0012418 ORPHA:439 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0001217 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0001631 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0001655 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0001708 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0011623 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0011712 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:439 Isolated right ventricular hypoplasia HP:0012383 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0000501 ORPHA:94058 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0000572 ORPHA:94058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0011497 ORPHA:94058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0012636 ORPHA:94058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0000553 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0000587 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0000613 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0007906 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0030532 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0200026 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:3000032 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0000593 ORPHA:94058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0004329 ORPHA:94058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0007850 ORPHA:94058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0012040 ORPHA:94058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94058 Neovascular glaucoma HP:0000541 ORPHA:94058 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99748 Pontiac fever HP:0001945 ORPHA:99748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99748 Pontiac fever HP:0002315 ORPHA:99748 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99748 Pontiac fever HP:0003326 ORPHA:99748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99748 Pontiac fever HP:0012378 ORPHA:99748 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99748 Pontiac fever HP:0012735 ORPHA:99748 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0000185 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0000252 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0000340 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0000347 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0000648 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0000737 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0000939 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0001252 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0001274 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0001320 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0001339 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0001376 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0001522 ORPHA:99742 TAS HP:0040281 C ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0001558 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0001942 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0001992 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0002069 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0002119 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0002240 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0002414 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0002509 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0004331 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0005968 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0011344 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99742 Amish lethal microcephaly HP:0011968 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0002148 ORPHA:437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0002653 ORPHA:437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0002748 ORPHA:437 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0001324 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0001508 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0002749 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0003109 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0003155 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0003498 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0006487 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0040069 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0000083 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0000117 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0000164 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0000694 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0001387 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0002150 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0003127 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0004963 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0010766 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0012052 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0020110 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0030757 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0030758 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0100512 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0100686 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0000121 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0000826 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0000836 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0000843 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0003072 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0003165 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0004484 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0005464 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0007565 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0008208 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0010659 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0010734 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:437 Hypophosphatemic rickets HP:0100774 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0000958 ORPHA:94059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0000989 ORPHA:94059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0003138 ORPHA:94059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0012622 ORPHA:94059 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0002360 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0003774 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0011112 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0011354 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0031355 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0031901 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0000716 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0001581 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0002918 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0003072 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0008732 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0011123 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0100725 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:94059 Uremic pruritus HP:0200034 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0000164 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0000239 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0000737 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0000772 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0000774 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0000944 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0001024 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0001250 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0001252 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0001363 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0001531 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0001903 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0002093 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0002097 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0002757 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0003072 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0004322 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0006487 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0008872 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:436 Hypophosphatasia HP:0010781 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0000421 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0000988 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0001251 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0001254 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0001259 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0001276 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0001337 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0001347 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0001695 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0001744 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0001945 ORPHA:99745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0002014 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0002019 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0002027 ORPHA:99745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0002239 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0002240 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0002315 ORPHA:99745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0002383 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0002829 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0003326 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0004936 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0006530 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0011675 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0012378 ORPHA:99745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0012733 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0012735 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99745 Typhoid HP:0100785 ORPHA:99745 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001249 ORPHA:171929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001510 ORPHA:171929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001511 ORPHA:171929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001518 ORPHA:171929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000119 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000159 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000268 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000316 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000348 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000366 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000478 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000598 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000924 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001155 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001250 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001760 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001999 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0011220 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000077 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000143 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000202 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000218 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000233 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000278 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000286 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000347 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000358 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000369 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000400 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000463 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000494 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0000582 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001290 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001305 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001384 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001627 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001762 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0001831 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0002007 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0002015 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0002020 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0002033 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0002266 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0002275 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0002937 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0003196 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0003199 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0005280 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0005562 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0006055 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0006958 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0009600 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0009879 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0010537 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0010851 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0011181 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0011193 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0011344 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0011451 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0011467 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0012385 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0012745 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171929 Trisomy 10p HP:0012794 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0001260 ORPHA:101110 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0001272 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0001618 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0002067 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0002514 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0007338 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0012049 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0030188 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0000640 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0001251 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0001347 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0002066 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0002321 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0007256 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0007351 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0010545 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0030185 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0030186 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101110 Spinocerebellar ataxia type 20 HP:0002080 ORPHA:101110 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0007328 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0007663 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0011468 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0031422 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0100275 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0000317 ORPHA:101111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002013 ORPHA:101111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002574 ORPHA:101111 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002073 ORPHA:101111 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0000012 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0000486 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0000639 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0000763 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0001761 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002066 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002464 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002522 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002650 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002936 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0003387 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0003445 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0003487 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101111 Spinocerebellar ataxia type 25 HP:0006937 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0001787 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0003388 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0003738 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0008305 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0008331 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0009045 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0011356 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0025474 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0025526 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0025528 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0040189 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0200039 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0001036 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0001919 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0002046 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0002910 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0003072 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0007432 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0012622 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0031190 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0031236 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0045040 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0000989 ORPHA:284426 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0001151 ORPHA:101112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0001260 ORPHA:101112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0002070 ORPHA:101112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0002073 ORPHA:101112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0007240 ORPHA:101112 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0000639 ORPHA:101112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0000641 ORPHA:101112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0001272 ORPHA:101112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0002078 ORPHA:101112 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0003487 ORPHA:101112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0007034 ORPHA:101112 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0001250 ORPHA:101112 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0002380 ORPHA:101112 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0003470 ORPHA:101112 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:101112 Spinocerebellar ataxia type 26 HP:0003474 ORPHA:101112 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0000867 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0000965 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0001939 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0002905 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0003207 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0003774 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0011122 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0011986 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0100658 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0100758 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0100806 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280062 Calciphylaxis HP:0200042 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0001250 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0001263 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0001274 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0001338 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0002059 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0002119 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0004330 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0006824 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0009830 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0012444 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0012447 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0025517 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0000405 ORPHA:85179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0002090 ORPHA:85179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0025116 ORPHA:85179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000248 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000341 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000343 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000348 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000486 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000639 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000938 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001252 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0003100 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0005280 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010864 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0011842 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0100704 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000079 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000121 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000365 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000431 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000540 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000767 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001627 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002069 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002123 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002150 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002650 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002705 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002714 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002750 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0003072 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0003282 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0008676 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0009824 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010818 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0012373 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000107 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000110 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000272 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000347 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000369 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000483 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000545 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000582 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000826 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000829 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001272 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001363 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001382 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001513 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001631 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001643 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001723 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002020 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002101 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002121 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002155 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002263 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002283 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002720 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002850 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002870 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0003186 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0006480 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0006961 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010536 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010804 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010841 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010850 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0011199 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0011470 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0012718 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0025330 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0030856 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002652 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002753 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002834 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002982 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002986 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003022 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003031 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003856 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003871 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003874 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003985 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003986 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0004026 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0005622 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0006387 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0006413 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0006429 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0008783 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0008804 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0010498 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0010502 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0010540 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0010639 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0011001 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0032208 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0100670 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0100916 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0100917 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0000938 ORPHA:85188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002650 ORPHA:85188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0006323 ORPHA:85188 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000218 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000242 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000256 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000260 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000272 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000347 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000494 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000520 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000885 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000938 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000940 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0001248 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0001760 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0002212 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0002645 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0002673 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0002703 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0002753 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0005446 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0006391 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0006429 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0008438 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0009911 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0010539 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0011001 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0011220 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0200026 ORPHA:293381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0009926 ORPHA:293381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0000613 ORPHA:293381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0001131 ORPHA:293381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0000622 ORPHA:293381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0008039 ORPHA:293381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0000495 ORPHA:293381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0000559 ORPHA:293381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0000529 ORPHA:293381 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0031792 ORPHA:293381 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0001097 ORPHA:293381 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0000735 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0001249 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0001250 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0001263 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0003160 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0003642 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0008947 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0000252 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0000365 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0000504 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0001276 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0001347 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0001999 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0011968 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0000278 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0000343 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0000348 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0000486 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0000958 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0001251 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0001508 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0002059 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0002179 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0002282 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0002375 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0002500 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0002509 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0002572 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0002650 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0002910 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0003186 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0005968 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0008000 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0008936 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0009124 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0010851 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0011842 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0012448 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0012704 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280071 ALG11-CDG HP:0012762 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000505 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000548 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000926 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0001156 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0002812 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0002979 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003015 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003025 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003026 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003300 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003510 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0005054 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0005930 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0006487 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0007703 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0008905 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0009803 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0010049 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0010583 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0030329 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000539 ORPHA:85167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000887 ORPHA:85167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000946 ORPHA:85167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003375 ORPHA:85167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0031171 ORPHA:85167 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000486 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000568 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000589 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000602 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000639 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0001105 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0001132 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0002650 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0007401 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0007688 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0007957 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0009918 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0012153 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0001249 ORPHA:85167 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:85168 Craniofacial conodysplasia HP:0000238 ORPHA:85168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85168 Craniofacial conodysplasia HP:0000271 ORPHA:85168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85168 Craniofacial conodysplasia HP:0002176 ORPHA:85168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85168 Craniofacial conodysplasia HP:0004439 ORPHA:85168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85168 Craniofacial conodysplasia HP:0010230 ORPHA:85168 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0001156 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0004268 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0005793 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0005819 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0006239 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0009882 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101108 Spinocerebellar ataxia type 23 HP:0001347 ORPHA:101108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101108 Spinocerebellar ataxia type 23 HP:0002066 ORPHA:101108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101108 Spinocerebellar ataxia type 23 HP:0002070 ORPHA:101108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101108 Spinocerebellar ataxia type 23 HP:0002073 ORPHA:101108 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101108 Spinocerebellar ataxia type 23 HP:0000514 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101108 Spinocerebellar ataxia type 23 HP:0001260 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101108 Spinocerebellar ataxia type 23 HP:0001310 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101108 Spinocerebellar ataxia type 23 HP:0003487 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101108 Spinocerebellar ataxia type 23 HP:0006886 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101108 Spinocerebellar ataxia type 23 HP:0010831 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0001260 ORPHA:101109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002066 ORPHA:101109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002070 ORPHA:101109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002395 ORPHA:101109 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000508 ORPHA:101109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000514 ORPHA:101109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000597 ORPHA:101109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000639 ORPHA:101109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0003487 ORPHA:101109 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0001300 ORPHA:101109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0030186 ORPHA:101109 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000708 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000716 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0001257 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0001332 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002063 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002346 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002354 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002451 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:101109 Spinocerebellar ataxia type 28 HP:0100543 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85174 Pseudodiastrophic dysplasia HP:0000272 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85174 Pseudodiastrophic dysplasia HP:0000926 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85174 Pseudodiastrophic dysplasia HP:0001539 ORPHA:85174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85174 Pseudodiastrophic dysplasia HP:0001762 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85174 Pseudodiastrophic dysplasia HP:0030680 ORPHA:85174 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85174 Pseudodiastrophic dysplasia HP:0002650 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85174 Pseudodiastrophic dysplasia HP:0003042 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85174 Pseudodiastrophic dysplasia HP:0006243 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85174 Pseudodiastrophic dysplasia HP:0008905 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85175 Astley-Kendall dysplasia HP:0002703 ORPHA:85175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85175 Astley-Kendall dysplasia HP:0002983 ORPHA:85175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85175 Astley-Kendall dysplasia HP:0008873 ORPHA:85175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85175 Astley-Kendall dysplasia HP:0010655 ORPHA:85175 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0002652 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0002827 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0002868 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0002990 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0003027 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0004018 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0004322 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0006413 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0006434 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0006487 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0006633 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0008808 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0010508 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0001249 ORPHA:85170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0003042 ORPHA:85170 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000252 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000272 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000444 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000446 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000518 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000520 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000926 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0001762 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0002007 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0003311 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0004279 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0004322 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0004582 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0010230 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0011833 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0200055 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0000028 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0000047 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0000078 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0000126 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0000135 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0000369 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0000835 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0001252 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0001511 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0002007 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0002983 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0005280 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85173 IMAGe syndrome HP:0100255 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000219 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000316 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000324 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000430 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000431 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000445 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000456 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001155 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001511 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0002714 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0002817 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0004209 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0007874 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0010939 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000453 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001274 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001631 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001763 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0007330 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0008115 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0012165 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001249 ORPHA:521308 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002719 ORPHA:331235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0032169 ORPHA:331235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0001047 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0001510 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0200043 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0030880 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002850 ORPHA:331235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002205 ORPHA:331235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0012432 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0000491 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002720 ORPHA:331235 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0004315 ORPHA:331235 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0011109 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0000010 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002110 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0032261 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0032262 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002960 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0000872 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002725 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0001370 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0001973 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0001904 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0003493 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0012204 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0100658 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002840 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0005353 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0000388 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0025439 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0031691 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0030757 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0033430 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0011370 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0007499 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0100537 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002837 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0031292 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0032275 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0012203 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0009098 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002028 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0032170 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0012393 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0003193 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002099 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0031047 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0006775 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0012539 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002890 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0012126 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0045080 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0032218 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0005415 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0030380 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0032140 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0100280 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002788 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0006532 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0011108 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0002716 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0004798 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0001287 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:331235 Selective IgM deficiency HP:0100806 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0000969 ORPHA:263665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0005523 ORPHA:263665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0100828 ORPHA:263665 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0002027 ORPHA:263665 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0002014 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0002019 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0002020 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0002253 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0002573 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0002588 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0002592 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0004295 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0005266 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:263665 NK-cell enteropathy HP:0012425 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000023 ORPHA:2196 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000112 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000545 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000567 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000639 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000787 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000790 ORPHA:2196 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0001116 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0001537 ORPHA:2196 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0007703 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0100530 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000256 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000750 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001263 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001290 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001319 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0031936 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000478 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000718 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000729 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000733 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000744 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001344 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001999 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002317 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002342 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002465 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002650 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0010864 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0025160 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000276 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000325 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000369 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000486 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000494 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001251 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001273 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001627 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001629 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002389 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002500 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0003196 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0006956 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0011220 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0011800 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0100702 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000176 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000218 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000219 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000260 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000268 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000324 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000343 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000483 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001137 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001250 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001284 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001357 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001374 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001583 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001631 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001647 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001655 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001943 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002007 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002021 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002028 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002558 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0005216 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0005988 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0011937 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0100350 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0000519 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0001263 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0001317 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0002342 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0006808 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0007256 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome HP:0000365 ORPHA:85164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome HP:0002650 ORPHA:85164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome HP:0100490 ORPHA:85164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome HP:0100491 ORPHA:85164 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0000252 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0000889 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0000956 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0002079 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0002197 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0002980 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0002982 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0005871 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0009118 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0010502 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0010864 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0011344 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0012081 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0012444 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000175 ORPHA:85166 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000272 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000369 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000774 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000882 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000926 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0001191 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0001561 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0001773 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0001789 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0002089 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0002652 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0002970 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0002983 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0003021 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0003090 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0003270 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0004279 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0005280 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0006487 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0008839 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0008873 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0009882 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0010306 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0011220 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:409 Hyperkeratosis lenticularis perstans HP:0000989 ORPHA:409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:409 Hyperkeratosis lenticularis perstans HP:0002671 ORPHA:409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:409 Hyperkeratosis lenticularis perstans HP:0002860 ORPHA:409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:409 Hyperkeratosis lenticularis perstans HP:0007570 ORPHA:409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:409 Hyperkeratosis lenticularis perstans HP:0008065 ORPHA:409 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:409 Hyperkeratosis lenticularis perstans HP:0200034 ORPHA:409 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:409 Hyperkeratosis lenticularis perstans HP:0200042 ORPHA:409 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0000972 ORPHA:2199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0007543 ORPHA:2199 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0001217 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0001220 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0001231 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0007447 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0010765 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0025092 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0032541 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0000975 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0008066 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0010829 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0010830 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0012385 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0025114 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0000982 ORPHA:2198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002017 ORPHA:2198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002239 ORPHA:2198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002250 ORPHA:2198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0100751 ORPHA:2198 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0001541 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0001824 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002015 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002020 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002033 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002240 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0004396 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0025270 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0045026 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0100760 ORPHA:2198 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0001260 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0001324 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0002015 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0002380 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0003202 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0003394 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0003401 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2197 Idiopathic hypercalciuria HP:0002150 ORPHA:2197 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2197 Idiopathic hypercalciuria HP:0012637 ORPHA:2197 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2197 Idiopathic hypercalciuria HP:0000938 ORPHA:2197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2197 Idiopathic hypercalciuria HP:0008672 ORPHA:2197 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2197 Idiopathic hypercalciuria HP:0000939 ORPHA:2197 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2197 Idiopathic hypercalciuria HP:0003529 ORPHA:2197 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2197 Idiopathic hypercalciuria HP:0004363 ORPHA:2197 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0003072 ORPHA:405 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0003127 ORPHA:405 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0003513 ORPHA:405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0003529 ORPHA:405 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002749 ORPHA:405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0003072 ORPHA:405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0008732 ORPHA:405 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0000934 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002017 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002315 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002574 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002918 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0004398 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0012378 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0012609 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0000787 ORPHA:405 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0001733 ORPHA:405 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002199 ORPHA:405 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002960 ORPHA:405 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0012032 ORPHA:405 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:405 Familial hypocalciuric hypercalcemia HP:0000121 ORPHA:405 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0000028 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0000939 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0001249 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0001250 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0001252 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0001263 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0001315 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0001942 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0002167 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0002353 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0002650 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0003198 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0003236 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0003307 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0003457 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0004322 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:408 Isolated glycerol kinase deficiency HP:0008182 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0001250 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0002079 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0002154 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0002353 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0010851 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0001252 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0012705 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0100247 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0001254 ORPHA:407 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0002033 ORPHA:407 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0002123 ORPHA:407 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0005957 ORPHA:407 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:407 Glycine encephalopathy HP:0005972 ORPHA:407 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001263 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001433 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001531 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001999 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0004482 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0006528 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000520 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000821 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001971 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0002719 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0002960 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0008947 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0011471 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0012115 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0025379 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0100646 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000268 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000269 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000331 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000368 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000453 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000508 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001394 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001409 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001876 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001904 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0002007 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0002242 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0003262 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0003453 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0006554 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0011800 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0012385 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0025329 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0030084 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0030151 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0031104 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0100651 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0000677 ORPHA:99798 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0005216 ORPHA:99798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0000684 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0000687 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0000689 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0000690 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0000691 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0000696 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0006289 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0006336 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0011051 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0011056 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0000202 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0000679 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0000685 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0006297 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0006342 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0006344 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0006482 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0011053 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0011078 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0011219 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99798 Oligodontia HP:0012472 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0000822 ORPHA:404 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0011740 ORPHA:404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0040084 ORPHA:404 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0011746 ORPHA:404 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0000360 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0000421 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0001324 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0002018 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0002170 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0002315 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0002900 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0008221 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0200114 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:404 Familial hyperaldosteronism type II HP:0011739 ORPHA:404 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0000822 ORPHA:403 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0011739 ORPHA:403 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0008221 ORPHA:403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0040084 ORPHA:403 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0000360 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0000421 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0001324 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0001959 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0002018 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0002170 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0002315 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0002900 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0011410 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:403 Familial hyperaldosteronism type I HP:0011746 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0001407 ORPHA:400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0001880 ORPHA:400 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0001824 ORPHA:400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0002611 ORPHA:400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0010702 ORPHA:400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0012378 ORPHA:400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0410019 ORPHA:400 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0000775 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0002240 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0002904 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0002910 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0003155 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0005230 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0005948 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0011458 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0025615 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0030948 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0031983 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0032101 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0032445 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0100845 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0000107 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0000138 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0000478 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0000925 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0000952 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0001025 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0001627 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0001732 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0002099 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0002585 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0003011 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0010576 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0011355 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0012062 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0012578 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0030423 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0031630 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0031700 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0045058 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:400 Cystic echinococcosis HP:0100592 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0000539 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0000545 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0000575 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0000622 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0001123 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0001133 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0030604 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0030644 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0030786 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0200057 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0000510 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0000512 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0000580 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0000603 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0007663 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0007722 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0007814 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0011531 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0012377 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0030662 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0000572 ORPHA:284454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0000610 ORPHA:284454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0008046 ORPHA:284454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:284454 Acute zonal occult outer retinopathy HP:0030499 ORPHA:284454 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0000518 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0001265 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0001344 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002240 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002355 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002515 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002910 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003198 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003307 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003326 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003394 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003560 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003701 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0006785 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0006889 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0012762 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0040081 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0100295 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0000252 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0001397 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002069 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002072 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002078 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0008947 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0025313 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002091 ORPHA:369840 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0005133 ORPHA:369840 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0000238 ORPHA:2185 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0000256 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0000324 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0000358 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0000414 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0000486 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0000494 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0000612 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0001249 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0001250 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0001270 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0002007 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0002119 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0002472 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0002536 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0030048 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0000407 ORPHA:2185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0000648 ORPHA:2185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0001104 ORPHA:2185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0001339 ORPHA:2185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2185 Congenital hydrocephalus HP:0001627 ORPHA:2185 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0000079 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0000286 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0000445 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0000765 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0001334 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0001636 ORPHA:2184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0001643 ORPHA:2184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0003189 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0004299 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0010772 ORPHA:2184 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000238 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000470 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000771 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000815 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0001256 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0001513 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0001634 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0002162 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0002705 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0002967 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0004322 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0010044 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000027 ORPHA:2183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000864 ORPHA:2183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0002550 ORPHA:2183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0007464 ORPHA:2183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0000238 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0000280 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0000486 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0000639 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001181 ORPHA:2182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001250 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001257 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001274 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001331 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001360 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001387 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0002410 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0002516 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0004374 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0010864 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0003281 ORPHA:254704 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0001808 ORPHA:254704 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0002829 ORPHA:254704 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0012378 ORPHA:254704 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0000518 ORPHA:254704 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0012465 ORPHA:254704 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0040130 ORPHA:254704 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0040135 ORPHA:254704 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0000098 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0000238 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001166 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001181 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001519 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0002808 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0005692 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001288 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001537 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001659 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0002007 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0002301 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0002650 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0002705 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0003834 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000238 ORPHA:2180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000303 ORPHA:2180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000912 ORPHA:2180 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000218 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000256 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000272 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000316 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000348 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000369 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000414 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000431 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000448 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000463 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000682 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000708 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000772 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000992 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0001000 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0001156 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0001249 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0001513 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0001852 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0002650 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0002937 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0003312 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0005280 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000486 ORPHA:2180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000545 ORPHA:2180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0006610 ORPHA:2180 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0000518 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0001249 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0001263 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002072 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002078 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002355 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002487 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002650 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0003198 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0003326 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0006785 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0009020 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0009073 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0000486 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0000545 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0001250 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002059 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002091 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0005133 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0008947 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000238 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000278 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000347 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0001162 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0001274 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0001331 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0001561 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0001622 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000175 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000176 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000193 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000368 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000369 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000490 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0001601 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0002086 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0004408 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0030680 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0030690 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0100333 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0100682 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000028 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000528 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0000568 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0002139 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0002323 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0002983 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2189 Hydrolethalus HP:0011027 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001249 ORPHA:457284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001250 ORPHA:457284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000194 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000297 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000316 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001252 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001263 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001274 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001344 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001357 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0002079 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0002119 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0002465 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0002650 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0012448 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0100704 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000023 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000122 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000151 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000238 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000324 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000463 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000478 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000609 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000752 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000767 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001382 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001385 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0003250 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0004209 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0005487 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0006955 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0010055 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0010721 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0011471 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0012304 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0025607 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0100259 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0007166 ORPHA:53583 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0000651 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001249 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001258 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001260 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001266 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001332 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001347 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0002131 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0002315 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0003401 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0007256 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0002069 ORPHA:53583 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2295 Familial articular hypermobility syndrome HP:0000023 ORPHA:2295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2295 Familial articular hypermobility syndrome HP:0001374 ORPHA:2295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2295 Familial articular hypermobility syndrome HP:0002815 ORPHA:2295 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2295 Familial articular hypermobility syndrome HP:0002823 ORPHA:2295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2295 Familial articular hypermobility syndrome HP:0002999 ORPHA:2295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2295 Familial articular hypermobility syndrome HP:0003834 ORPHA:2295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2295 Familial articular hypermobility syndrome HP:0005692 ORPHA:2295 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2295 Familial articular hypermobility syndrome HP:0009811 ORPHA:2295 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome HP:0003307 ORPHA:2292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome HP:0006487 ORPHA:2292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2291 Congenital velopharyngeal incompetence HP:0000174 ORPHA:2291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2291 Congenital velopharyngeal incompetence HP:0000220 ORPHA:2291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2291 Congenital velopharyngeal incompetence HP:0000365 ORPHA:2291 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2291 Congenital velopharyngeal incompetence HP:0000600 ORPHA:2291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2291 Congenital velopharyngeal incompetence HP:0001608 ORPHA:2291 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0000121 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0000989 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0001263 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0001942 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0001944 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0002014 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0003270 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0011106 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0011472 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0011473 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2290 Microvillus inclusion disease HP:0012211 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0030148 ORPHA:2299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0032092 ORPHA:2299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0032554 ORPHA:2299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0000822 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0000961 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001627 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001629 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001635 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001712 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0002098 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0002789 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0008872 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0010741 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0020142 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0030973 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0031273 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0031664 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001643 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001647 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001659 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001660 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001669 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0002315 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0002875 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0004417 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0005180 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0011604 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0011712 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0031784 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001719 ORPHA:2299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0001750 ORPHA:2299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2299 Aortic arch interruption HP:0010883 ORPHA:2299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0000093 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0000123 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0000147 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0000825 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0000831 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0001952 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0000842 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0000855 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0000956 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0000988 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0001007 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0001596 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0001824 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0001873 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0001882 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0001946 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0001952 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0001953 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0002090 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0002613 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0002665 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0002725 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0002758 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0002960 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0003073 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0003074 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0003076 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0003119 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0003162 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0003237 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0003261 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0003493 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0003565 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0004323 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0004324 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0004325 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0004359 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0004361 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0004924 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0005416 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0005978 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0006775 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0008283 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0008675 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0010286 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0011998 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0012153 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0012189 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0012378 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0030088 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2298 Insulin-resistance syndrome type B HP:0100879 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2297 Insulin-resistance syndrome type A HP:0000823 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2297 Insulin-resistance syndrome type A HP:0000962 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2297 Insulin-resistance syndrome type A HP:0001482 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2297 Insulin-resistance syndrome type A HP:0002230 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2297 Insulin-resistance syndrome type A HP:0005616 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2297 Insulin-resistance syndrome type A HP:0005978 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2297 Insulin-resistance syndrome type A HP:0007440 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000028 ORPHA:228402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000194 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000232 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000248 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000252 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000272 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000280 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000337 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000664 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000733 ORPHA:228402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000749 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000750 ORPHA:228402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0000752 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0001250 ORPHA:228402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0001251 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0001252 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0001385 ORPHA:228402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0001510 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0001572 ORPHA:228402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0001852 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0002019 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0002230 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0002360 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0002553 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0002591 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0004209 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0004279 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0004322 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0008736 ORPHA:228402 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0010804 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0010864 ORPHA:228402 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228402 2q23.1 microdeletion syndrome HP:0100716 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69061 Idiopathic steroid-sensitive nephrotic syndrome HP:0000100 ORPHA:69061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69061 Idiopathic steroid-sensitive nephrotic syndrome HP:0001004 ORPHA:69061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000218 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000268 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000276 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000322 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000337 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000347 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000369 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000377 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000448 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000508 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000678 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0000951 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0001249 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0001634 ORPHA:228410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0001642 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0001650 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0001654 ORPHA:228410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0001699 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0002750 ORPHA:228410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0004322 ORPHA:228410 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0005180 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0005692 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228410 Polyvalvular heart disease syndrome HP:0011675 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization HP:0000099 ORPHA:69063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization HP:0000100 ORPHA:69063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization HP:0030949 ORPHA:69063 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization HP:0000083 ORPHA:69063 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0001075 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0001370 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0001945 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0002037 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0002829 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0002863 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0003326 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0008066 ORPHA:48104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0010702 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0012324 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0100614 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0200034 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0200037 ORPHA:48104 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0200039 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:48104 Pyoderma gangrenosum HP:0200042 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000252 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000316 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000324 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000347 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000365 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000431 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000463 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0001290 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0001511 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0001643 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0002092 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0002205 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0002553 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0003196 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0004322 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0006801 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0008551 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0010864 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0011968 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0012418 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000028 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000037 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000047 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000049 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000054 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000185 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000470 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000508 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000924 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0011819 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000600 ORPHA:2289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000602 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000639 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000648 ORPHA:2289 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000708 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000726 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0001250 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0001251 ORPHA:2289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0001260 ORPHA:2289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0001276 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0001347 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0002167 ORPHA:2289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0002353 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0002650 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0003298 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0003312 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0003457 ORPHA:2289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2289 Neuronal intranuclear inclusion disease HP:0100022 ORPHA:2289 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2287 Fused mandibular incisors HP:0000164 ORPHA:2287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2287 Fused mandibular incisors HP:0006288 ORPHA:2287 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2285 Primary basilar invagination HP:0000470 ORPHA:2285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2285 Primary basilar invagination HP:0000496 ORPHA:2285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2285 Primary basilar invagination HP:0000600 ORPHA:2285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2285 Primary basilar invagination HP:0001608 ORPHA:2285 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2285 Primary basilar invagination HP:0002691 ORPHA:2285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2285 Primary basilar invagination HP:0003319 ORPHA:2285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2285 Primary basilar invagination HP:0003468 ORPHA:2285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2285 Primary basilar invagination HP:0005758 ORPHA:2285 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228415 5q35 microduplication syndrome HP:0000252 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228415 5q35 microduplication syndrome HP:0000545 ORPHA:228415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228415 5q35 microduplication syndrome HP:0000708 ORPHA:228415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228415 5q35 microduplication syndrome HP:0001249 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228415 5q35 microduplication syndrome HP:0001250 ORPHA:228415 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:228415 5q35 microduplication syndrome HP:0001328 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228415 5q35 microduplication syndrome HP:0001510 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:228415 5q35 microduplication syndrome HP:0002750 ORPHA:228415 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:228415 5q35 microduplication syndrome HP:0004322 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0000252 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0001249 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0001250 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0001263 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0001272 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0001290 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0001508 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0011968 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0012345 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0000028 ORPHA:370921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0000046 ORPHA:370921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0000054 ORPHA:370921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370921 STT3A-CDG HP:0007772 ORPHA:370921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000077 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000126 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000252 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000400 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000453 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000483 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000491 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000492 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000498 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000509 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000545 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000554 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000639 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000682 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000925 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000926 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001025 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001155 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001252 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001274 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001321 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001331 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000613 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0008070 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001249 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001250 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001328 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001595 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001596 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0008064 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0200034 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000499 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000614 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000726 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000962 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000964 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000966 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001268 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001508 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001510 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001597 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001804 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001812 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002046 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002205 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002223 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002376 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002718 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002719 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002721 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0004370 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0010783 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0011968 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0012742 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0045074 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0200020 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000023 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000028 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000072 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001539 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002007 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002120 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002251 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002750 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002808 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0003468 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0003510 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0007957 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0010935 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0012157 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0012165 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0040163 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100257 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100308 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100490 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100532 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100534 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100825 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0000252 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0000271 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0000958 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0001347 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0002445 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0003011 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0007021 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0008064 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000365 ORPHA:369939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0001508 ORPHA:369939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0001999 ORPHA:369939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0007256 ORPHA:369939 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000252 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000486 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0001511 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0001954 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0002445 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0006808 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000496 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000648 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000718 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000752 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0001272 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0002120 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0003429 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0007371 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0012444 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0012762 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0000218 ORPHA:171881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0000276 ORPHA:171881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0001270 ORPHA:171881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0001315 ORPHA:171881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0004303 ORPHA:171881 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0000767 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0001290 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0001611 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0001634 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0001763 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0002359 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0002421 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0002616 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0002938 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0002943 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0003388 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0003391 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0003551 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0003557 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0003700 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0006673 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0007110 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0007210 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0007340 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0008081 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0009046 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0010628 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0011703 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0030200 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:171881 Cap myopathy HP:0030051 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0002888 ORPHA:251639 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0002076 ORPHA:251639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0012531 ORPHA:251639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0025461 ORPHA:251639 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0001250 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0001288 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0002013 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0002460 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0010302 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0012534 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0030693 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0002896 ORPHA:251639 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0100013 ORPHA:251639 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0100526 ORPHA:251639 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251639 Subependymoma HP:0100615 ORPHA:251639 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0001249 ORPHA:2278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0001508 ORPHA:2278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0003510 ORPHA:2278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0007479 ORPHA:2278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0000164 ORPHA:2278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0000518 ORPHA:2278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0001231 ORPHA:2278 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0003355 ORPHA:2278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0008209 ORPHA:2278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0100006 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0005107 ORPHA:251643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0008069 ORPHA:251643 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0000372 ORPHA:251643 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0002888 ORPHA:251643 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0031938 ORPHA:251643 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0002013 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0002315 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0002317 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0005341 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0012700 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251643 Myxopapillary ependymoma HP:0030833 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0000726 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0001251 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0001265 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0001288 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0001744 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0002167 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0002240 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0008064 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0001785 ORPHA:568051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0003550 ORPHA:568051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0003759 ORPHA:568051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0010741 ORPHA:568051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0100766 ORPHA:568051 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0000282 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0001581 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0002619 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0005293 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0007514 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0100658 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0000508 ORPHA:568051 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0031188 ORPHA:568051 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0000246 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0000388 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0000988 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0001287 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0001369 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0001508 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0001864 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0001873 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0001874 ORPHA:229717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0001903 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0001945 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0001999 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0002014 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0002024 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0002090 ORPHA:229717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0002205 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0002721 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0002960 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0004322 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0004332 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0012378 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0100533 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0100658 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0100763 ORPHA:229717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0100765 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0100806 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0100838 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:229717 Isolated agammaglobulinemia HP:0200042 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000047 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000174 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000243 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000252 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000368 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000396 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000444 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000664 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0001231 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0001249 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0001252 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0001387 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0004209 ORPHA:2261 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0008388 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0011800 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0000083 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0000093 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0003259 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0005563 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0012213 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0012575 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0012584 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0030162 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0000092 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0001518 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0001622 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0003774 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0011035 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0025361 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0001944 ORPHA:2260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0001959 ORPHA:2260 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0000122 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0000271 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0000347 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0000365 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0000588 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0000776 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0000822 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0001250 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0001684 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0002089 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0006518 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0009796 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0012758 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2260 Oligomeganephronia HP:0040064 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000822 ORPHA:369929 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000859 ORPHA:369929 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0040084 ORPHA:369929 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001250 ORPHA:369929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001263 ORPHA:369929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001714 ORPHA:369929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002900 ORPHA:369929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0100021 ORPHA:369929 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001258 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001959 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002069 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002092 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002305 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002384 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0010864 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0011166 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0011410 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0011706 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0100285 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0100704 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0200114 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000360 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000421 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000787 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001629 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002018 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002170 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002315 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0008221 ORPHA:369929 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0011739 ORPHA:369929 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001249 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002221 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002293 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002555 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0005597 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0007503 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0000656 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0000958 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0000973 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001263 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002194 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002317 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0005595 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0012472 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0025092 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0040189 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001344 ORPHA:2269 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0045075 ORPHA:2269 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0000135 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0000707 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001103 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001250 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001257 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002063 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0010550 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0030182 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0002888 ORPHA:251636 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0002076 ORPHA:251636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0012531 ORPHA:251636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0025461 ORPHA:251636 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0001250 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0001288 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0002013 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0002460 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0010302 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0012534 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0030693 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0002896 ORPHA:251636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0100013 ORPHA:251636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0100526 ORPHA:251636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251636 Ependymoma HP:0100615 ORPHA:251636 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0000158 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0000256 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0000286 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0000316 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0000347 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0000369 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0001249 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0001263 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0001334 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0001537 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0001874 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0001888 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0001903 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0002024 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0002205 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0002721 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0003220 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0004313 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0004322 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0005280 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0005374 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0010808 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2268 ICF syndrome HP:0012368 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type HP:0008070 ORPHA:2266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type HP:0001249 ORPHA:2266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type HP:0006088 ORPHA:2266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type HP:0006288 ORPHA:2266 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0000238 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0000716 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0001181 ORPHA:275543 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0001249 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0001250 ORPHA:275543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0001257 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0001263 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0001288 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0001347 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0002017 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0002251 ORPHA:275543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0002315 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0002410 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0002463 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0003202 ORPHA:275543 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275543 L1 syndrome HP:0004374 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0000083 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0000093 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0000100 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0000112 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0002240 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0001635 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0001639 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0001658 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0001662 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0001824 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0002028 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0002202 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0002254 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0012332 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0002579 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0002607 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0003155 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0003115 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0011675 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0004926 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0005341 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0006530 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0010741 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:330001 Wild type ATTR amyloidosis HP:0100598 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0002960 ORPHA:227990 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001972 ORPHA:227990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0002582 ORPHA:227990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0002608 ORPHA:227990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0030057 ORPHA:227990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0100651 ORPHA:227990 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001045 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001596 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001882 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0002613 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0004313 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0010625 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0000217 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0000815 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0000863 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0000938 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001094 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001097 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001370 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001970 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001973 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0003613 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0006530 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0008066 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0010451 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0012115 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0012220 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0100522 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0000872 ORPHA:227990 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0002728 ORPHA:227990 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0008207 ORPHA:227990 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0100647 ORPHA:227990 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0000953 ORPHA:2251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0008070 ORPHA:2251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001596 ORPHA:2251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0003510 ORPHA:2251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0009778 ORPHA:2251 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0000232 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0000411 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0000982 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001025 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001053 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001199 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001249 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001263 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001328 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0002300 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0002381 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0002381 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0006482 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0008402 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0010529 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0040036 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0100490 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0100798 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0006101 ORPHA:2251 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158008 Papular xanthoma HP:0001013 ORPHA:158008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158008 Papular xanthoma HP:0100727 ORPHA:158008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158008 Papular xanthoma HP:0200035 ORPHA:158008 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158008 Papular xanthoma HP:0003077 ORPHA:158008 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000023 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000135 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000309 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000458 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000518 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000692 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0003241 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0004409 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0006352 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0008736 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0009932 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0040326 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0100596 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000028 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000528 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000568 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000572 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000612 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000618 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000646 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000771 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0009023 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000175 ORPHA:2250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000176 ORPHA:2250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000193 ORPHA:2250 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158003 Xanthoma disseminatum HP:0000159 ORPHA:158003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158003 Xanthoma disseminatum HP:0000600 ORPHA:158003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158003 Xanthoma disseminatum HP:0000873 ORPHA:158003 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158003 Xanthoma disseminatum HP:0001600 ORPHA:158003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158003 Xanthoma disseminatum HP:0025426 ORPHA:158003 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158003 Xanthoma disseminatum HP:0002797 ORPHA:158003 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000303 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000343 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000400 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000718 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000742 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0001263 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000712 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002378 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002465 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002515 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002705 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0010864 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0045025 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000073 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000574 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000748 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000821 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002540 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002861 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0003002 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0005580 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0012114 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0000490 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0000540 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0000639 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0001249 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0001357 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0001513 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0002079 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0002119 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0002194 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0007020 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0011220 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0011400 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0025312 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0001561 ORPHA:521390 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0000498 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0000501 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0000520 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0000554 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0000572 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0001101 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0002086 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0005547 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0007565 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0011830 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0011886 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158000 Juvenile xanthogranuloma HP:0200064 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0002089 ORPHA:2257 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0000961 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0002091 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0002104 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0002643 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0002789 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0012418 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0030829 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0000175 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0000252 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0000286 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0000347 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0000369 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0001508 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0001511 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0001651 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0001684 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0002205 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0002778 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0003065 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0040045 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0000071 ORPHA:2257 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0002099 ORPHA:2257 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0002107 ORPHA:2257 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0030966 ORPHA:2257 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2257 Primary pulmonary hypoplasia HP:0032094 ORPHA:2257 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000028 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000049 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000089 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000316 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000347 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000411 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000431 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000494 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0001195 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0001561 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0001622 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0001629 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0002007 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0030680 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0003022 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0003026 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0005280 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0006101 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0006492 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0008736 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0010242 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0100016 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0011752 ORPHA:251623 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0011754 ORPHA:251623 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0012503 ORPHA:251623 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0001123 ORPHA:251623 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0002315 ORPHA:251623 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0000044 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0000141 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0000802 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0000824 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0000870 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0002354 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0008214 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0040171 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0008245 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0011043 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0012378 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0030018 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0040075 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0000863 ORPHA:251623 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:251623 Pituicytoma HP:0100829 ORPHA:251623 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000857 ORPHA:2255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001629 ORPHA:2255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001631 ORPHA:2255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001655 ORPHA:2255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001738 ORPHA:2255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001249 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001508 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001511 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001518 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0002254 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0002594 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011968 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0100790 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0100801 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000851 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001250 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001319 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001562 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001636 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001642 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001643 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001669 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0002098 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0003645 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0004415 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0004762 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011573 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011581 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000073 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000776 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000891 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001195 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001537 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0002566 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0005912 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0010626 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011466 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011611 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011628 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0040196 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0003765 ORPHA:279914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0031035 ORPHA:279914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0200056 ORPHA:279914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0040049 ORPHA:279914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0000501 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0000518 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0000585 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0002633 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0007663 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0011484 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0011505 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0012122 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0030652 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0030661 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0100014 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0100653 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0100832 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279914 Intermediate uveitis HP:0001970 ORPHA:279914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0000093 ORPHA:275555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0000822 ORPHA:275555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0004421 ORPHA:275555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0005117 ORPHA:275555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0100767 ORPHA:275555 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0000077 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0000504 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0000707 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0001511 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0001518 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0002027 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0002315 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0002910 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0006707 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0031418 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0000147 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0001873 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0001919 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0002360 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0002960 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0003259 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0005202 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0012622 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:275555 Preeclampsia HP:0100651 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001252 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001263 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001265 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001270 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001324 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0002398 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0002878 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0003202 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0007360 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000253 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000529 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000639 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000648 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001508 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0011968 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0012110 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000486 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001250 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001257 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001308 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001347 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0002120 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0002350 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0003477 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0004886 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0033725 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000565 ORPHA:2254 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001251 ORPHA:2254 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0002804 ORPHA:2254 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000478 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000486 ORPHA:2253 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000518 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000639 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000648 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000504 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0007440 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0000047 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0000303 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0002983 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0002984 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0005725 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0007477 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0000286 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0000597 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0000602 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0001249 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0001276 ORPHA:99735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0001288 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0001324 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0001376 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0001608 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0002015 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0002094 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0002099 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0002486 ORPHA:99735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0003307 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0003326 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0003394 ORPHA:99735 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0003457 ORPHA:99735 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0003712 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0003720 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0004322 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99735 Myotonia permanens HP:0100749 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0000597 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0000602 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0000821 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0001276 ORPHA:99736 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0001288 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0002015 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0002486 ORPHA:99736 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0003326 ORPHA:99736 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0003394 ORPHA:99736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0003457 ORPHA:99736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0003712 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99736 Acetazolamide-responsive myotonia HP:0100749 ORPHA:99736 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000044 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000511 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000545 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000617 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000639 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000668 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000677 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000684 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000823 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001251 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001256 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001257 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001263 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001310 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001321 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001332 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001347 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002015 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002079 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002080 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002134 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002174 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002312 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002376 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002403 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002415 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002464 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002493 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0003429 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0003487 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0004322 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0005341 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0025460 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000648 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002120 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002166 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002307 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0006858 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0009830 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000490 ORPHA:447896 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0007359 ORPHA:447896 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0003552 ORPHA:99734 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0100284 ORPHA:99734 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0002491 ORPHA:99734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0008967 ORPHA:99734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0012902 ORPHA:99734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0012903 ORPHA:99734 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0000622 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0000651 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0003326 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0012378 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0012899 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0012900 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0000486 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0001288 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0001319 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0002104 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0003701 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0003740 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0010307 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0025425 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0030842 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:99734 Myotonia fluctuans HP:0012904 ORPHA:99734 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2248 Hypoplastic left heart syndrome HP:0001643 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2248 Hypoplastic left heart syndrome HP:0001718 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2248 Hypoplastic left heart syndrome HP:0009800 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2248 Hypoplastic left heart syndrome HP:0012304 ORPHA:2248 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2248 Hypoplastic left heart syndrome HP:0001631 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2248 Hypoplastic left heart syndrome HP:0002916 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2248 Hypoplastic left heart syndrome HP:0004383 ORPHA:2248 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2248 Hypoplastic left heart syndrome HP:0011560 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0000505 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0000512 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0000639 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0000648 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0001251 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0001252 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0001321 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0007703 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0100543 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0000952 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001396 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002155 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002904 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003073 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003119 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003128 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003155 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0004313 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0006254 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0008151 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0011966 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0012024 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0025435 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0030948 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001397 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001433 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001531 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001987 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002014 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002161 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002240 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002910 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003231 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0010903 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0010909 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0010916 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001511 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001903 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002239 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002919 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003124 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003141 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003233 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003235 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003354 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0004396 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0012278 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0040301 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0000518 ORPHA:247598 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001892 ORPHA:247598 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0000003 ORPHA:2241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0000021 ORPHA:2241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0000028 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0000072 ORPHA:2241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0001522 ORPHA:2241 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0001537 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0001539 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0001561 ORPHA:2241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0002017 ORPHA:2241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0030680 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0002566 ORPHA:2241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0003270 ORPHA:2241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0004388 ORPHA:2241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0011024 ORPHA:2241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0100544 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0100771 ORPHA:2241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0100806 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0000098 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0000141 ORPHA:99725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0000280 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0000303 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0000870 ORPHA:99725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0000845 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0000975 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0001176 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0001639 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0001712 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0001833 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0002007 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0005616 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0005978 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0006767 ORPHA:99725 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0011407 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0011760 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0012411 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0030269 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:99725 Pituitary gigantism HP:0100829 ORPHA:99725 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0000239 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0000270 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001249 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001252 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001263 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001328 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001387 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001802 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001817 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001840 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001883 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0002983 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0002984 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0003022 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0003027 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0003042 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0003510 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0009465 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0010059 ORPHA:2249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0011304 ORPHA:2249 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0002315 ORPHA:238624 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0002516 ORPHA:238624 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0001085 ORPHA:238624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0001513 ORPHA:238624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0012393 ORPHA:238624 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0000572 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0000613 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0000622 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0000651 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0002013 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0002018 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0002360 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0010822 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0100851 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0000716 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0001254 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0002076 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0002321 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0003418 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0008629 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238624 Idiopathic intracranial hypertension HP:0011161 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0000112 ORPHA:69076 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0000124 ORPHA:69076 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0003076 ORPHA:69076 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0000010 ORPHA:69076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0001944 ORPHA:69076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0001946 ORPHA:69076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0008855 ORPHA:69076 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0000805 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0000855 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0003074 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0004924 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0040214 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:69076 Familial renal glucosuria HP:0040217 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0000488 ORPHA:158029 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0000498 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0000953 ORPHA:158029 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0000967 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0000969 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0001010 ORPHA:158029 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0001482 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0001744 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0001873 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0001892 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0001982 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0002113 ORPHA:158029 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0002240 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158029 Sea-blue histiocytosis HP:0100721 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0000737 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0000790 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0000822 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0001482 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0001824 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0001873 ORPHA:69077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0001903 ORPHA:69077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0001945 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0002017 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0002027 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0002093 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0002301 ORPHA:69077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0002315 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0002716 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0002896 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0003072 ORPHA:69077 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0004396 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0006824 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0009726 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0011029 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0012246 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0100006 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0100021 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69077 Rhabdoid tumor HP:0100242 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69078 Liposarcoma HP:0000077 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69078 Liposarcoma HP:0001482 ORPHA:69078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69078 Liposarcoma HP:0001824 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69078 Liposarcoma HP:0002017 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69078 Liposarcoma HP:0002027 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69078 Liposarcoma HP:0002619 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69078 Liposarcoma HP:0003401 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69078 Liposarcoma HP:0012378 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69078 Liposarcoma HP:0100242 ORPHA:69078 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0025475 ORPHA:158025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0030350 ORPHA:158025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0040138 ORPHA:158025 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0000989 ORPHA:158025 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0002716 ORPHA:158025 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0031871 ORPHA:158025 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:370091 Oculocutaneous albinism type 5 HP:0000218 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370091 Oculocutaneous albinism type 5 HP:0000613 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370091 Oculocutaneous albinism type 5 HP:0000639 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370091 Oculocutaneous albinism type 5 HP:0001098 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370091 Oculocutaneous albinism type 5 HP:0001107 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370091 Oculocutaneous albinism type 5 HP:0007663 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:370091 Oculocutaneous albinism type 5 HP:0007750 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000110 ORPHA:2237 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000408 ORPHA:2237 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000829 ORPHA:2237 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000076 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000083 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000113 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000122 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000126 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000860 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0002199 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0002901 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000819 ORPHA:2237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0001153 ORPHA:2237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0003762 ORPHA:2237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000148 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000151 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000175 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000510 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0001627 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0003765 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0011840 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0008850 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158022 Progressive nodular histiocytosis HP:0001482 ORPHA:158022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158022 Progressive nodular histiocytosis HP:0001945 ORPHA:158022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158022 Progressive nodular histiocytosis HP:0004326 ORPHA:158022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158022 Progressive nodular histiocytosis HP:0200034 ORPHA:158022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000044 ORPHA:2235 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000510 ORPHA:2235 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000580 ORPHA:2235 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000144 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000786 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000823 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000830 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000939 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0002750 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0003164 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0003187 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0008187 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0008202 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0008240 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0008724 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000164 ORPHA:2235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0001513 ORPHA:2235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0002757 ORPHA:2235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0004322 ORPHA:2235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0004349 ORPHA:2235 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000046 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000135 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000144 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000708 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000771 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0001249 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0002937 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0003312 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0003782 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0005978 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0008734 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0008736 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000470 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000772 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000820 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0001513 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0002231 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0004322 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0100745 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000144 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000494 ORPHA:2233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0001256 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0001513 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0004322 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0011362 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000035 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000135 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000218 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000470 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000771 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0005916 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0001634 ORPHA:2233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0002162 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0040071 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0001397 ORPHA:247585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0008281 ORPHA:247585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0011966 ORPHA:247585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0045082 ORPHA:247585 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0000711 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0000718 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0000737 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0000738 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0000746 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0001250 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0001254 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0001289 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0001337 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0002155 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0002240 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0002329 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0002354 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0002360 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0002910 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0003073 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0003075 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0003077 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0007159 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0012164 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0030166 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0030765 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0031258 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0100738 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0000709 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0000752 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0000805 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0001259 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0001263 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0001395 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0001402 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0001733 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0002013 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0002014 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0002181 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0002480 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0003124 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0003233 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0010529 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0012569 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0100754 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247585 Citrullinemia type II HP:0100785 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000815 ORPHA:2232 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0002293 ORPHA:2232 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0008193 ORPHA:2232 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000028 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000219 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000534 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000786 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000789 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000802 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000823 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000837 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000938 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000939 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0001510 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0001596 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0003187 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0003799 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0005469 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0007464 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0008187 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0008214 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0040171 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0008633 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0008684 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0010463 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0010464 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0011961 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000252 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0045075 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0001256 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0002225 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0002652 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0002808 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0002938 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000365 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0001199 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0003393 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0006184 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0009185 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0010487 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0012506 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370097 Oculocutaneous albinism type 6 HP:0000613 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370097 Oculocutaneous albinism type 6 HP:0000639 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370097 Oculocutaneous albinism type 6 HP:0001098 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370097 Oculocutaneous albinism type 6 HP:0007663 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370097 Oculocutaneous albinism type 6 HP:0008034 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370097 Oculocutaneous albinism type 6 HP:0008059 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370097 Oculocutaneous albinism type 6 HP:0030613 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0002960 ORPHA:525731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0011703 ORPHA:525731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0011784 ORPHA:525731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0031506 ORPHA:525731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0100647 ORPHA:525731 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000237 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000492 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000520 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000712 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000737 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000752 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000853 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000975 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001337 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001508 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001744 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001959 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001962 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0002014 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0002240 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0002487 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0002591 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0002910 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0005616 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0008373 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0011788 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0025379 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0031284 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0100785 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000708 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000822 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000952 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001363 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001511 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001562 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001622 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001873 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0002017 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0005110 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0010519 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0100534 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000252 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0000491 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001263 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001635 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0001904 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0012768 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:525731 Pediatric-onset Graves disease HP:0200028 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000154 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000445 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000490 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000687 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0008897 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0010864 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000272 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000322 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000325 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000369 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000733 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000739 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000965 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0001072 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0012471 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0012745 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0040196 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0045025 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0045075 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0100738 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000315 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000486 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0000742 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0001250 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0001631 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0002360 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0002650 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0003100 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0010535 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0011220 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:319671 Alazami syndrome HP:0012171 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0005227 ORPHA:447877 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0012114 ORPHA:447877 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0200063 ORPHA:447877 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0003002 ORPHA:447877 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0030692 ORPHA:447877 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0040276 ORPHA:447877 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0100743 ORPHA:447877 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0025337 ORPHA:280914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0200026 ORPHA:280914 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0000501 ORPHA:280914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0040049 ORPHA:280914 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0000613 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0000616 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0000622 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0007787 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0007906 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0011484 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0100018 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280914 Idiopathic anterior uveitis HP:0012796 ORPHA:280914 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0000252 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0000448 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0000601 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0000786 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001191 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001250 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001263 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001385 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001513 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001607 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0002750 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0003067 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0004209 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0004220 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0004322 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0004626 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0008551 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0008846 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0008850 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0009826 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0010864 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0012814 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002901 ORPHA:2239 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0008198 ORPHA:2239 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0008211 ORPHA:2239 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002150 ORPHA:2239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002199 ORPHA:2239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002905 ORPHA:2239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0003251 ORPHA:2239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002917 ORPHA:2239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0000112 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0000518 ORPHA:2238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0000682 ORPHA:2238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0000684 ORPHA:2238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0000829 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0001250 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0002514 ORPHA:2238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0002901 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0003198 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0004322 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0011675 ORPHA:2238 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2238 Familial isolated hypoparathyroidism HP:0100530 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0007427 ORPHA:69087 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0007455 ORPHA:69087 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000164 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000958 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000966 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001808 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0002046 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0006482 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0007500 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0008392 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0008404 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0031282 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000670 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000970 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000972 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001010 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001056 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001220 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001806 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001810 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0005586 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0006253 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0006286 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0006297 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0006480 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0007530 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0007599 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0011069 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0012785 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0031045 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0002960 ORPHA:227982 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0000872 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001972 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0002582 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0002608 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0030057 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0100647 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0100651 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001045 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001596 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001882 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0002613 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0004313 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0010625 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0000217 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0000815 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0000863 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0000938 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001094 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001097 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001370 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001970 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001973 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0003613 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0006530 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0008066 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0010451 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0011771 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0012115 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0012220 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0100522 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0002728 ORPHA:227982 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0008207 ORPHA:227982 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000564 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0001092 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0002557 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0002561 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0012814 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0100783 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000175 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000193 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000498 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000668 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000958 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000966 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0001159 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0001770 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0002164 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0004209 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0007717 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0011819 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0011939 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0012165 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0410005 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0410030 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000151 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000272 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000411 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0000786 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0001480 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0001596 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0003765 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0007565 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0010463 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:69085 Limb-mammary syndrome HP:0045075 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000028 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000501 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000648 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000737 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000762 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0001263 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0001332 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0001344 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0002020 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0002059 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0002069 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0002353 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0002540 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0003202 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0003390 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0004302 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0007002 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0007817 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0008872 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0008947 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0011344 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0011471 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0030179 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0008366 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0100660 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0012411 ORPHA:457205 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0001250 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0001482 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0001903 ORPHA:158014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0001945 ORPHA:158014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0002315 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0002716 ORPHA:158014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0002797 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0002961 ORPHA:158014 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0003401 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0010550 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0010783 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158014 Rosaï-Dorfman disease HP:0200034 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0000164 ORPHA:2222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0000212 ORPHA:2222 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0000365 ORPHA:2222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0000574 ORPHA:2222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0000684 ORPHA:2222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0001000 ORPHA:2222 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0002230 ORPHA:2222 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0011446 ORPHA:279947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0012378 ORPHA:279947 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0000366 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0000737 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0000822 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0000975 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0001945 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0002315 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0000217 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0000613 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0000622 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0000716 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0000750 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0001260 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0001324 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0001609 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0001962 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:279947 Postorgasmic illness syndrome HP:0003552 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0000492 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0000534 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0002213 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0002230 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0002664 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0005599 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0000158 ORPHA:2221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0000206 ORPHA:2221 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0000956 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0001072 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0001824 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0002028 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0002716 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0004396 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0008064 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0100013 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0100606 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0100615 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0002230 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0002983 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0003510 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0008905 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0009811 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0011121 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000311 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000324 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0002300 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0002381 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0002381 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0010529 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000252 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000271 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000348 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000426 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000464 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000492 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000494 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000499 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000508 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000574 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0000614 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0001249 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0001263 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0001328 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0002750 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2220 Hypertrichosis cubiti HP:0005692 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0000504 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0000622 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0007663 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0025337 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0030652 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0200026 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0000518 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0000613 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0000616 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0002315 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0011484 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0011505 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0030661 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0030953 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0100832 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0000618 ORPHA:280921 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0007906 ORPHA:280921 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0011506 ORPHA:280921 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:280921 Idiopathic panuveitis HP:0100014 ORPHA:280921 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000147 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000431 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000508 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000815 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000826 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0001644 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0100362 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000147 ORPHA:2228 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000164 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000232 ORPHA:2228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000668 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000684 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000698 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0001231 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0001597 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0001800 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0001804 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0001808 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0002213 ORPHA:2228 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0006349 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0006482 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0008402 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0012746 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0012156 ORPHA:158048 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001744 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001876 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001945 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0012647 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0025540 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0031406 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0031691 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0032169 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0000707 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001873 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001875 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001903 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0002155 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0002240 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0002910 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0003281 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0005521 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0011900 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0032204 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0040089 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001250 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001251 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001260 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0002152 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0006824 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0012229 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0020101 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0030891 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0031179 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0031692 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0032260 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001298 ORPHA:158048 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0031700 ORPHA:158048 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0032256 ORPHA:158048 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:238606 Primary orthostatic tremor HP:0001337 ORPHA:238606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238606 Primary orthostatic tremor HP:0002071 ORPHA:238606 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:238606 Primary orthostatic tremor HP:0003011 ORPHA:238606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238606 Primary orthostatic tremor HP:0003326 ORPHA:238606 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:238606 Primary orthostatic tremor HP:0003394 ORPHA:238606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238606 Primary orthostatic tremor HP:0003457 ORPHA:238606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:238606 Primary orthostatic tremor HP:0100022 ORPHA:238606 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000277 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000298 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000324 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000343 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000358 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000465 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001182 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001357 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001762 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001840 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002650 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002804 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0003202 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0005487 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0005988 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0009465 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0100490 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000028 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000046 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000160 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000175 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000405 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000426 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000494 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000508 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000601 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000767 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001166 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001611 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002047 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002714 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0003510 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0006610 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0009775 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0011302 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0012370 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0012400 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0040081 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0045040 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000023 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000187 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000268 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000293 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000340 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000520 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000772 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001252 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001557 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001561 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001804 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001812 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002094 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002263 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002808 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0005306 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0006101 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0006288 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0008402 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0010733 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0011800 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0040036 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0100556 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0100798 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000252 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000316 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000413 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0008501 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0008551 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000085 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000405 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0001249 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0001263 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0001328 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0003393 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0003510 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0004736 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000456 ORPHA:2213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0011803 ORPHA:2213 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000036 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000039 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000047 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000049 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000239 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000248 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000270 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000316 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000358 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000369 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000431 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000457 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0001177 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0005469 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0006101 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000048 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000337 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000343 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000494 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000501 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000508 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000520 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000625 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0010059 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0011304 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000960 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0001302 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0001339 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0002084 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0002126 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0002269 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0002536 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0007227 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0008388 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0030769 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0000726 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001250 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0002333 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0000572 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001627 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0002312 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0100543 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0003657 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001251 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0000708 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001257 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0010536 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0000529 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001337 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0007360 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0003204 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001336 ORPHA:79262 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001268 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0002071 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0007256 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0003208 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000083 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000126 ORPHA:35687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000505 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000508 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000520 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000639 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000873 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000944 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000975 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000988 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001114 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001251 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001260 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001317 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001347 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001386 ORPHA:35687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001635 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001646 ORPHA:35687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001697 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001824 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001903 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001945 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0001959 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0002017 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0002027 ORPHA:35687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0002094 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0002202 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0002206 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0002653 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0002754 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0002797 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0000044 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0005200 ORPHA:35687 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0005930 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0006530 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0010885 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0010978 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0011001 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0012378 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0012735 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35687 Erdheim-Chester disease HP:0100518 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0002141 ORPHA:210272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0002172 ORPHA:210272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0002317 ORPHA:210272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0002321 ORPHA:210272 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0000496 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0000622 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0000651 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0000739 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0001289 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0002013 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0002018 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0002076 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0002315 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0012378 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0030826 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0001751 ORPHA:210272 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:210272 Mal de débarquement HP:0410263 ORPHA:210272 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000726 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002333 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000572 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002312 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0003657 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0033044 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000750 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001251 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001310 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001260 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002015 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001336 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002072 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001337 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001332 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0011209 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002074 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002120 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0012444 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0007987 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000618 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0100543 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0025336 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002317 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001257 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001250 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0003739 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002197 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0025373 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001272 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002059 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000550 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0030485 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0012379 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000729 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002376 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002421 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0007010 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0003565 ORPHA:93552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0005421 ORPHA:93552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0045042 ORPHA:93552 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000079 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000083 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000093 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000100 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000123 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000790 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000951 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000969 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000988 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001698 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001873 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001882 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001888 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001937 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001945 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002202 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002716 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0003493 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0003613 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0011024 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0025435 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000155 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000707 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000709 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001250 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001324 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001369 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001541 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002013 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002027 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002086 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002094 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002301 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002315 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002725 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002829 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0003270 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0004372 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0007417 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0025300 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0025343 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0040319 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001596 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002014 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002463 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0003453 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0030880 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0100543 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0100614 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93552 Pediatric systemic lupus erythematosus HP:0100749 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000219 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000252 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000316 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000319 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000490 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000653 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000750 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001166 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001249 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001252 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001265 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001270 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001337 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001508 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0004322 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0008551 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0009088 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0012368 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0012751 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0045075 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0045082 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000722 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000729 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000739 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001263 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0007018 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0030800 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000717 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000776 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001250 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0002007 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0002650 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0007302 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0009553 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0009891 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0100753 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000054 ORPHA:370079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0002937 ORPHA:370079 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000572 ORPHA:79264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002312 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001250 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002376 ORPHA:79264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002104 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001300 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000733 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000546 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002500 ORPHA:79264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0012379 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000618 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002167 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000726 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002275 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000712 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0100543 ORPHA:79264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000739 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000716 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001129 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0007010 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0007064 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002505 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001348 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000543 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000580 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002069 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0003739 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002015 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0033454 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0011951 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0025373 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002333 ORPHA:79264 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001627 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0005324 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000975 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0032324 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001649 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002876 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001272 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002059 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0012692 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0007183 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002360 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0001305 ORPHA:2218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0002230 ORPHA:2218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0003457 ORPHA:2218 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0002754 ORPHA:2218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0040165 ORPHA:2218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0200042 ORPHA:2218 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002151 ORPHA:255182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002490 ORPHA:255182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0500231 ORPHA:255182 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001250 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001264 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001273 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002273 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002928 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0003128 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0010915 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0000252 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001263 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001274 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001508 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002079 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002119 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002134 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0007109 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0008936 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0010864 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001317 ORPHA:255182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002059 ORPHA:255182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002363 ORPHA:255182 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0000175 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0000252 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0001250 ORPHA:2216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0001252 ORPHA:2216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0001276 ORPHA:2216 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0001387 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0001511 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0002269 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0002353 ORPHA:2216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0004209 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0004322 ORPHA:2216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0007598 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0008056 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0008736 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0011800 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0100543 ORPHA:2216 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0000079 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0000252 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0001561 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0001744 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0001789 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0002240 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0002269 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0002652 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0002813 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0003103 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0004322 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0006703 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0009826 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2204 Dysplastic cortical hyperostosis HP:0011001 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0000252 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0000708 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0000736 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0000750 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001249 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001250 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001987 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0002161 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0003131 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0003268 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0003297 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0004322 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0008947 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0010850 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0012379 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0012403 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0012758 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001263 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0500163 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0500204 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0500208 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0500243 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0000218 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0000319 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0000457 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0000486 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0000601 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0000752 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001264 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001285 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001310 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001337 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001348 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001363 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001508 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0001999 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0002013 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0002015 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0002020 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0002033 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0002179 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0002275 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0002312 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0004971 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0006532 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0006889 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0008589 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0009739 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0011171 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0011342 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0011968 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0025331 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0030051 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0031867 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0040288 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0045074 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2203 Hyperlysinemia HP:0100022 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2202 Palmoplantar keratoderma-deafness syndrome HP:0000407 ORPHA:2202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2202 Palmoplantar keratoderma-deafness syndrome HP:0000962 ORPHA:2202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2202 Palmoplantar keratoderma-deafness syndrome HP:0000982 ORPHA:2202 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0000982 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0001072 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0001231 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0001288 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0001761 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0003457 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0007021 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0008388 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0009830 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0010547 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0001257 ORPHA:2201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0002301 ORPHA:2201 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0000212 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0000222 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0000975 ORPHA:2200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0000982 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0001231 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0001597 ORPHA:2200 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0007497 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0008392 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0008399 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0002166 ORPHA:488333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0003474 ORPHA:488333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0007108 ORPHA:488333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0008959 ORPHA:488333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0009053 ORPHA:488333 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0001288 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0001348 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0001760 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0001761 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0003376 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0007002 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0001765 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0003100 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0003438 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0006937 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0007328 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0008954 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0012531 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0030051 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0030237 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0000252 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0000518 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0000708 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0000716 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0000717 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0000964 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0001010 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0001250 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0001263 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0001268 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0001276 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0001337 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0001347 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0001510 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0002017 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0002301 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0002333 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0002354 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0002514 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0004923 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0005599 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0007018 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0010550 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0010864 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0100679 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79254 Classic phenylketonuria HP:0100716 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0003613 ORPHA:464343 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001977 ORPHA:464343 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001937 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002625 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002641 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002829 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0004420 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0004844 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0004936 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0005268 ORPHA:464343 TAS HP:0040282 C ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0011112 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0020136 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0032376 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0000707 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0000965 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001250 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001297 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001369 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001654 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001658 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001873 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002076 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002204 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002326 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002638 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002725 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0025324 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0025343 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0031653 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0100576 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0200042 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0000077 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0000726 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001681 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002072 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002092 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0005244 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0006846 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0010885 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0012819 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0025326 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0100758 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464343 Catastrophic antiphospholipid syndrome HP:3000042 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001627 ORPHA:2209 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000252 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001249 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001263 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001511 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001680 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001999 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0004383 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000218 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000343 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000347 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000431 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000463 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000752 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001250 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001629 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001636 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001719 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0002079 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000286 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000340 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000486 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0000601 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001156 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0001488 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0002032 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0002836 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0004411 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0008589 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0009611 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0012210 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:2209 Maternal phenylketonuria HP:0030084 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0008166 ORPHA:79255 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000365 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000618 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000707 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000924 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001249 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001433 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001999 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0002376 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0003541 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0008947 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001263 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0410346 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000943 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001257 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001638 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0002267 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0002506 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0002652 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0007204 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0010729 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0011951 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0012753 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000158 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000212 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000343 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000369 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000400 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000455 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000768 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0000926 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001007 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001072 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001230 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001250 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001789 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0002007 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0002684 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0002690 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0002869 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0003026 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0004562 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0005280 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0006371 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0008479 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0008807 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0008812 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0011968 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0012307 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0025013 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0100767 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:3000050 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001511 ORPHA:79255 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0001332 ORPHA:79255 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79255 GM1 gangliosidosis type 1 HP:0002071 ORPHA:79255 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis HP:0000925 ORPHA:2206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis HP:0002758 ORPHA:2206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis HP:0040163 ORPHA:2206 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis HP:0000982 ORPHA:2206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis HP:0001513 ORPHA:2206 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001510 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001538 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001943 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002149 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002155 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002240 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0003077 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0003124 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0003128 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0004322 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0006568 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0012379 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000105 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000147 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000293 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000311 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000858 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000939 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001263 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001270 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001397 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001508 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001733 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002718 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0010974 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0100279 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0100512 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0100646 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0410252 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000093 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000121 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000132 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000155 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000230 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000421 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000670 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000696 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000704 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000787 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000821 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000822 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000823 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000938 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000978 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001114 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001892 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001903 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002014 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002037 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002173 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002659 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0004387 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0005576 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0011890 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0012028 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0012146 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0030950 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0100543 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001402 ORPHA:79259 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001997 ORPHA:79259 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0003774 ORPHA:79259 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0000518 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0000952 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0001249 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0001252 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0001263 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0001510 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0001744 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0001824 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0002017 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0002240 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0003355 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0004915 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79238 Galactose epimerase deficiency HP:0011968 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000707 ORPHA:79239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0003251 ORPHA:79239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0012379 ORPHA:79239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0030272 ORPHA:79239 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000518 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000750 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000786 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000823 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000868 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000869 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000876 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000952 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001256 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001263 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001268 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001328 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001399 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001928 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0002013 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0002174 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0002240 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0002345 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0002910 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0006977 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0008209 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0009088 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0012537 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0030353 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000028 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000716 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000729 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000739 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0000939 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001250 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001251 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001254 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001260 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001288 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001298 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001332 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001943 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0002014 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0002141 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0002311 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0002312 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0004349 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0007018 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0011098 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0011446 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0011968 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0020110 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0100512 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0100806 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79239 Classic galactosemia HP:0001541 ORPHA:79239 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0001156 ORPHA:435804 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0007281 ORPHA:435804 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0009778 ORPHA:435804 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0011800 ORPHA:435804 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0002758 ORPHA:435804 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000407 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000974 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001270 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001382 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001763 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0002421 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0002751 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0003198 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0003202 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0006829 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0007502 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000545 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000938 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000978 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001075 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001324 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0003236 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0003388 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0100790 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0012372 ORPHA:300179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0025019 ORPHA:300179 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000482 ORPHA:300179 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001519 ORPHA:300179 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:46348 Paroxysmal extreme pain disorder HP:0001250 ORPHA:46348 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:46348 Paroxysmal extreme pain disorder HP:0002019 ORPHA:46348 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0001410 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0001873 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0001903 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0001945 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0002960 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0003073 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0003281 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0003565 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0011118 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0012156 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0012649 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0025435 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0030356 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0030782 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0030783 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0031964 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0040089 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0001744 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0001875 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0002155 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0002716 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0005681 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0011227 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0011900 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0031956 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0001298 ORPHA:158061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0002240 ORPHA:158061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0002725 ORPHA:158061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158061 Macrophage activation syndrome HP:0012115 ORPHA:158061 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002155 ORPHA:79240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002240 ORPHA:79240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0008897 ORPHA:79240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0012379 ORPHA:79240 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001395 ORPHA:79240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002910 ORPHA:79240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003124 ORPHA:79240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003162 ORPHA:79240 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0000147 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0000750 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0000858 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0000876 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001252 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001394 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001744 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001947 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001988 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002194 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002719 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003202 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003236 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003323 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003325 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003326 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003394 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003546 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003749 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0004322 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0011342 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0012378 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0012734 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0100607 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0000939 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001402 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001903 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002013 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002014 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002018 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002913 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003128 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003201 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0004324 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0012028 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0001992 ORPHA:79241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0005979 ORPHA:79241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0410145 ORPHA:79241 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0000407 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0000707 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0000988 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0001250 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0001252 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0001987 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0002715 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0410263 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0000365 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0000478 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0000509 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0000575 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0000648 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0000976 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0001138 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0001249 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0001251 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0001254 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0001596 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0002069 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0002098 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0002104 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0002123 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0002196 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0002313 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0002841 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0002883 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0003690 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0004429 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0005401 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0006511 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0011153 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0012469 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0001263 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79241 Biotinidase deficiency HP:0200068 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0000737 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001096 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001250 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001252 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001510 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001824 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0002017 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0002039 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0011127 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001987 ORPHA:79242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001992 ORPHA:79242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0002098 ORPHA:79242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0002789 ORPHA:79242 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0000964 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001251 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001254 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001259 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001596 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001873 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79242 Holocarboxylase synthetase deficiency HP:0007549 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001518 ORPHA:79243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002151 ORPHA:79243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002490 ORPHA:79243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0500231 ORPHA:79243 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0000707 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001250 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001511 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001999 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002059 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002069 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002119 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002171 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002187 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0003128 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0003542 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0004902 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0006956 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0011193 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0011196 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0011199 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0012443 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0025361 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0030917 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0000252 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0000618 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0000954 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001251 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001252 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001274 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001332 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001338 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001371 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001629 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001761 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001883 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002020 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002079 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002100 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002126 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002329 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002350 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002521 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002540 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002643 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002719 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0006799 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0006970 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0006999 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0009826 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0010576 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0011471 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0011968 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0012128 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0012469 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0012698 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002355 ORPHA:79244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0012379 ORPHA:79244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0100503 ORPHA:79244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0500231 ORPHA:79244 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000496 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000546 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000707 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000708 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0001260 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0001263 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0001276 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0001288 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002136 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002180 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002268 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002395 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002454 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0003487 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0005656 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0010864 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002454 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0025331 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0025335 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0031139 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0031936 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0031960 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000252 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000486 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000726 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000739 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0004302 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0007994 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0011098 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0000316 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0000369 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0000463 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0000470 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0000924 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0001156 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0001250 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0001508 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0001799 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0001999 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0002370 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0002650 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0002656 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0002808 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0008093 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0011344 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0011800 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0001338 ORPHA:420794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0001561 ORPHA:420794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0005792 ORPHA:420794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0006385 ORPHA:420794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0012537 ORPHA:420794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0000943 ORPHA:420794 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0001252 ORPHA:420794 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0010230 ORPHA:420794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:420794 Cono-spondylar dysplasia HP:0010864 ORPHA:420794 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0002928 ORPHA:79246 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0001319 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0002151 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0003128 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0003348 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0003648 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0008358 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0008936 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0011342 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0040328 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0410263 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0001257 ORPHA:35689 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0002127 ORPHA:35689 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0002493 ORPHA:35689 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0003487 ORPHA:35689 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0007034 ORPHA:35689 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0002015 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0002064 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0002200 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0002371 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0002464 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0003444 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0007199 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0010549 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0006827 ORPHA:35689 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0007002 ORPHA:35689 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0010873 ORPHA:35689 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0002366 ORPHA:35689 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:35689 Primary lateral sclerosis HP:0003474 ORPHA:35689 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002910 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0004377 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0011900 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0025435 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001399 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001433 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002863 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002922 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0004808 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0005521 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0006721 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0006775 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012189 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012190 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012191 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012229 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0020072 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0030080 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001402 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002667 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002860 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0003003 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012125 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0100526 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012156 ORPHA:158057 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001744 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001876 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001945 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002958 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0003281 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0011227 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012211 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0030782 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0040218 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001873 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001875 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001903 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002155 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002904 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0002086 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0002094 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0002797 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0011842 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0011900 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0012735 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0025408 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0000421 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0000464 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0000782 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0000978 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0001433 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0001737 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0001744 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0001873 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0001945 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0002823 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0003084 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0003174 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0003312 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0003319 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0003546 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0005107 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0005562 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0011896 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0031095 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0031364 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0040163 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0100310 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0100608 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0100711 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0100749 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0100764 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0000105 ORPHA:464329 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0001903 ORPHA:464329 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0002105 ORPHA:464329 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0002693 ORPHA:464329 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0012740 ORPHA:464329 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0002088 ORPHA:464329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0002202 ORPHA:464329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0045026 ORPHA:464329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0100763 ORPHA:464329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0100766 ORPHA:464329 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0000765 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0001698 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464329 Kaposiform lymphangiomatosis HP:0001892 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0000135 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0000802 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0000819 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0000939 ORPHA:79230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0001254 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0001324 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0001644 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0002612 ORPHA:79230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0002910 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0003040 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0003281 ORPHA:79230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0007440 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0011031 ORPHA:79230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0012093 ORPHA:79230 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79230 Hemochromatosis type 2 HP:0012463 ORPHA:79230 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001873 ORPHA:464321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002239 ORPHA:464321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0011121 ORPHA:464321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0012718 ORPHA:464321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0025015 ORPHA:464321 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002088 ORPHA:464321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002170 ORPHA:464321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0011354 ORPHA:464321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0025474 ORPHA:464321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0030350 ORPHA:464321 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0000077 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0000478 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0000759 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001250 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001342 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001392 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001627 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002011 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002105 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002248 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002249 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002573 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002797 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002904 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0003304 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0009139 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0011035 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0012735 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0012758 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0031368 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0045039 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0000573 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001541 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001639 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001945 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002134 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002514 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0003273 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0007902 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0009830 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0010536 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0025064 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0025085 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0025420 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0031938 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0040242 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000112 ORPHA:79233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001249 ORPHA:79233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001332 ORPHA:79233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0002149 ORPHA:79233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0003149 ORPHA:79233 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000083 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000707 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000791 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001250 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001263 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001347 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001919 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001997 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0002071 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0003259 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0012587 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0100518 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000742 ORPHA:79233 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0000365 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0000750 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001080 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001249 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001250 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001337 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001343 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001392 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0002354 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0003265 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0006579 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0008282 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0008947 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0012246 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79235 Crigler-Najjar syndrome type 2 HP:0003265 ORPHA:79235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79235 Crigler-Najjar syndrome type 2 HP:0006579 ORPHA:79235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79235 Crigler-Najjar syndrome type 2 HP:0008282 ORPHA:79235 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0012024 ORPHA:79237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0012379 ORPHA:79237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0410061 ORPHA:79237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0410062 ORPHA:79237 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0000518 ORPHA:79237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0100018 ORPHA:79237 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0000815 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0000842 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0001249 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0001270 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0001433 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0001518 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0002240 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0008209 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0011098 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0000252 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0000407 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0001250 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0001508 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0001622 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0001943 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0002361 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0003124 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0004431 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0011968 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79237 Galactokinase deficiency HP:0012768 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0000083 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0000613 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0000708 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0000975 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0000988 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0001250 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0001254 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0001287 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0001337 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0001744 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0001892 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0001945 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0002017 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0002027 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0002091 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0002094 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0002315 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0002383 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0002615 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0002716 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0003326 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0004372 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0012122 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0012733 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0012735 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0012819 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83317 Scrub typhus HP:0100758 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000359 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000407 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000512 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000518 ORPHA:231178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000545 ORPHA:231178 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000572 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000575 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000639 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000662 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000670 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000682 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000691 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000716 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000738 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0000739 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0001251 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0002120 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0007360 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0007730 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0011073 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0012157 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0012377 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231178 Usher syndrome type 2 HP:0100753 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0000988 ORPHA:83313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0001945 ORPHA:83313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0040211 ORPHA:83313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0100872 ORPHA:83313 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0000083 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0001873 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0002315 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0002716 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0002829 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0002910 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0003326 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0003496 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0012733 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0025289 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0032156 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0040186 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0200036 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0000967 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0001882 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0002014 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0002018 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0002027 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0003237 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0000613 ORPHA:83313 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0002633 ORPHA:83313 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:83313 Boutonneuse fever HP:0002878 ORPHA:83313 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001987 ORPHA:247525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0011966 ORPHA:247525 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001399 ORPHA:247525 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0000707 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001250 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001254 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001257 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001508 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001950 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0002013 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0002342 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0002480 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0006889 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0011968 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0000473 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0000575 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001251 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001252 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001256 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001259 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0001350 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0002020 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0002076 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0002315 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0002516 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0002789 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0007185 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:247525 Citrullinemia type I HP:0011448 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001249 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001263 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001382 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0003160 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0004474 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0005328 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0007392 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0011003 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0025082 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000023 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000260 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000270 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000426 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000486 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000494 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001252 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001302 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001511 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001763 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002197 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002198 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002376 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002384 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002438 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0005272 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0005445 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0005484 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0006891 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0008897 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0011344 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0011451 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0100874 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000343 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000592 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001250 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001251 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001257 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001305 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001320 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001332 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001350 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001374 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001892 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002007 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002305 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002334 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002540 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0006989 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000365 ORPHA:357058 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000481 ORPHA:357058 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002659 ORPHA:357058 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000974 ORPHA:357058 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0007957 ORPHA:357058 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000486 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000565 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000750 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001263 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001270 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001344 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0008947 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0009884 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0010864 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000219 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000252 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000319 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000322 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000325 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000347 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000368 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000426 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000431 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000463 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000494 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001166 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001250 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001319 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001357 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001525 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001762 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001999 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002007 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002019 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002353 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002650 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0004322 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0004326 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0009931 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0010804 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001252 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0011968 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0100660 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0100963 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0200055 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000470 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000639 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001511 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002079 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002360 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002510 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002870 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002987 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0003273 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0003458 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0006380 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0008936 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0011470 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0100024 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0100716 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002376 ORPHA:33069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0007240 ORPHA:33069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0007359 ORPHA:33069 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0000466 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0000729 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0000739 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0001300 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0001327 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0001336 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002063 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002067 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002123 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002349 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002373 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002384 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002396 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0006813 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0007207 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0007270 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0008770 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0010841 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0011169 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0011172 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0011182 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0011468 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0012847 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0100543 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0000736 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0000980 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0001763 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002283 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002307 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002311 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0002345 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0003066 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0007010 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0008081 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0008947 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0011185 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0011198 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0025101 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0031475 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0100694 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0100710 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0200048 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:33069 Dravet syndrome HP:0010818 ORPHA:33069 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93599 Primary hyperoxaluria type 2 HP:0000121 ORPHA:93599 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93599 Primary hyperoxaluria type 2 HP:0000787 ORPHA:93599 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93599 Primary hyperoxaluria type 2 HP:0003159 ORPHA:93599 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93599 Primary hyperoxaluria type 2 HP:0000010 ORPHA:93599 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93599 Primary hyperoxaluria type 2 HP:0006000 ORPHA:93599 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93599 Primary hyperoxaluria type 2 HP:0000083 ORPHA:93599 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0100518 ORPHA:93598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0000010 ORPHA:93598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0000805 ORPHA:93598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0000121 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0000787 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0001903 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0001942 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0003159 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0003761 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0011021 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0000790 ORPHA:93598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0001508 ORPHA:93598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0012213 ORPHA:93598 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0000924 ORPHA:93598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0003774 ORPHA:93598 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0000164 ORPHA:93598 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0001297 ORPHA:93598 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0001939 ORPHA:93598 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:93598 Primary hyperoxaluria type 1 HP:0002621 ORPHA:93598 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001252 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001274 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001999 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0002683 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0002928 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0003128 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0004325 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0012758 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001250 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001251 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001302 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001315 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001321 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001511 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0002079 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0002119 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0002365 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0006970 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0007016 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0007109 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0007165 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0007772 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0200012 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0010873 ORPHA:363722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0011441 ORPHA:363722 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0000639 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0001251 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0001257 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0001260 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0001347 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0001618 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0002015 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0002313 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0002518 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0002839 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0003487 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0003690 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0007109 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0010530 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0012332 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0002063 ORPHA:363722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0002360 ORPHA:363722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363722 Alexander disease type II HP:0002650 ORPHA:363722 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0002460 ORPHA:357043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0003202 ORPHA:357043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0003487 ORPHA:357043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0007256 ORPHA:357043 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0001258 ORPHA:357043 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0001288 ORPHA:357043 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0001761 ORPHA:357043 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0003474 ORPHA:357043 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000008 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000175 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000252 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000256 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000269 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000431 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000463 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000470 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000582 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000772 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000913 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000921 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0001511 ORPHA:1797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0002205 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0030680 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0002650 ORPHA:1797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0003298 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0003307 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0003422 ORPHA:1797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0003510 ORPHA:1797 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0005107 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0010306 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1795 Peripheral dysostosis HP:0001156 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1795 Peripheral dysostosis HP:0001387 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1795 Peripheral dysostosis HP:0002758 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1795 Peripheral dysostosis HP:0004209 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1795 Peripheral dysostosis HP:0004322 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1795 Peripheral dysostosis HP:0010230 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0000161 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0000164 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0000175 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0000347 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0000366 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0000430 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0000431 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0000492 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0000499 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0000582 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0001156 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0001181 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0002006 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0003063 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0004322 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0007957 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0008056 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0100490 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0100543 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0100840 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1794 Oculomaxillofacial dysostosis HP:0200102 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0002500 ORPHA:363717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0007183 ORPHA:363717 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0001250 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0001272 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0001508 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0002650 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0004481 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0007256 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0012696 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0100320 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0000238 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0001251 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0001257 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0001260 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0001263 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0001347 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0002015 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0004326 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0001252 ORPHA:363717 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0001290 ORPHA:363717 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0002013 ORPHA:363717 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:363717 Alexander disease type I HP:0010530 ORPHA:363717 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79292 Fish-eye disease HP:0000505 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79292 Fish-eye disease HP:0001681 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79292 Fish-eye disease HP:0001744 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79292 Fish-eye disease HP:0002240 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79292 Fish-eye disease HP:0002621 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79292 Fish-eye disease HP:0002716 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79292 Fish-eye disease HP:0003233 ORPHA:79292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79292 Fish-eye disease HP:0007957 ORPHA:79292 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000175 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000248 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000316 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000337 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000384 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000453 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000456 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000457 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000482 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000506 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000508 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000518 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000568 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000581 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000612 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0000636 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0001088 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0001140 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0001482 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0002006 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0002079 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0002084 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0003196 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0004132 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0004322 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0005280 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0007036 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0007708 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0011800 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0100335 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1791 Frontofacionasal dysplasia HP:0100840 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000008 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000160 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000175 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000193 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000243 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000248 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000369 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000452 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000463 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000494 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000520 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000582 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000588 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0001363 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0001522 ORPHA:1790 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0001561 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0001631 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0001643 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0002205 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0002777 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0003196 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0005439 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0005607 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0008749 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0010295 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0011800 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0100543 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0000825 ORPHA:79299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0001985 ORPHA:79299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0001988 ORPHA:79299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0008283 ORPHA:79299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0030794 ORPHA:79299 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0001250 ORPHA:79299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0001324 ORPHA:79299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0002378 ORPHA:79299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0012378 ORPHA:79299 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0001259 ORPHA:79299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0005978 ORPHA:79299 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0002270 ORPHA:79299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0012638 ORPHA:79299 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000375 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000407 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000483 ORPHA:231183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000512 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000518 ORPHA:231183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000572 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000575 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000662 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000716 ORPHA:231183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000738 ORPHA:231183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0000739 ORPHA:231183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0001251 ORPHA:231183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0001756 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0007730 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0008499 ORPHA:231183 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0012377 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231183 Usher syndrome type 3 HP:0100753 ORPHA:231183 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002751 ORPHA:536471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002761 ORPHA:536471 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000164 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000316 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000325 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000368 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000369 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000520 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000592 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000926 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000938 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000946 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000963 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000974 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000977 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001027 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001167 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001252 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001263 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001371 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001373 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001382 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001385 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001762 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001763 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001999 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002007 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002650 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002659 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002828 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003468 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004322 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004993 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0008453 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0012368 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000160 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000175 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000337 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000343 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000347 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000365 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000463 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000494 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000894 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000954 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000973 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001075 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001270 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001654 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001772 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002093 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002209 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002974 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002987 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003015 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003016 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003048 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003196 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003368 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003370 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004568 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0005280 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0006487 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0008499 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0009811 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0010575 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0011332 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0011341 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0040160 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0100255 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0100864 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000023 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000028 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000135 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000485 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000486 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000501 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000508 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000545 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000588 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000609 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000612 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000768 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001004 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001043 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001054 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001631 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001642 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001650 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001822 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002089 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002091 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002999 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003417 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004269 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004442 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004970 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0007787 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0007957 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0008807 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0009944 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0010754 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0012687 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0040047 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0100777 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1799 Familial developmental dysphasia HP:0002381 ORPHA:1799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1799 Familial developmental dysphasia HP:0002474 ORPHA:1799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1799 Familial developmental dysphasia HP:0002546 ORPHA:1799 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency HP:0001945 ORPHA:319600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency HP:0002716 ORPHA:319600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency HP:0010978 ORPHA:319600 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000158 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000164 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000174 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000248 ORPHA:1798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000252 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000316 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000327 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000444 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000446 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000470 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000520 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000670 ORPHA:1798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000682 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000767 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000929 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0000944 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0001156 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0002514 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0002645 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0002650 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0002652 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0002808 ORPHA:1798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0002983 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0003307 ORPHA:1798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0004322 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0004474 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0005105 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0005665 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0005930 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0006487 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0009804 ORPHA:1798 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0010669 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0011001 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0011800 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0012368 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1798 Dysostosis, Stanescu type HP:0100777 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0001744 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0001890 ORPHA:231154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0001904 ORPHA:231154 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0002721 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0002960 ORPHA:231154 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0004430 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0005403 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0006515 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0010976 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0100806 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0000848 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0001278 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0001945 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0002013 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0002153 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0002615 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0002902 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0004319 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0012112 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0012606 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0025436 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0001508 ORPHA:556037 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0008897 ORPHA:556037 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:556037 Late-onset familial hypoaldosteronism HP:0000811 ORPHA:556037 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0001904 ORPHA:464370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0003453 ORPHA:464370 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0002090 ORPHA:464370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0032169 ORPHA:464370 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0000952 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0001287 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0001945 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0005268 ORPHA:464370 TAS HP:0040283 C ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0005968 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0009800 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0032435 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:464370 Neonatal alloimmune neutropenia HP:0100806 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000358 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000369 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000938 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001027 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001382 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002007 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002651 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002751 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002757 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002828 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0003016 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0004993 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0005008 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0006487 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0008807 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0008897 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0010575 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0011800 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0012095 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000218 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000238 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000343 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000347 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000463 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000520 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000592 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000691 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000939 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000963 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000974 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000978 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001075 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001166 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001181 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001252 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001270 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001319 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001385 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001762 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001822 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0003196 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0003300 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0004568 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0005280 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0006243 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0010646 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0010648 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000410 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000473 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000482 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000501 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000545 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000670 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000703 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000750 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000767 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000768 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000926 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000946 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001250 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001297 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001357 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001363 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001562 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001634 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002089 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002091 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002093 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002098 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002616 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002650 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002779 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002974 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0003414 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0004970 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0005678 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0006522 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0008453 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0009726 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0012366 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0012727 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0100750 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0500087 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0007552 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0008070 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0008897 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0008947 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0009125 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0011003 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0011968 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0025167 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0100874 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000023 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000486 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001250 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001257 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001302 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001305 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001321 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001339 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001374 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002126 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0025201 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0025244 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0010989 ORPHA:357074 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002097 ORPHA:357074 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001476 ORPHA:357074 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000218 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000253 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000272 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000316 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000319 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000343 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000369 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000455 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000463 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000494 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000670 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000726 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000750 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000973 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001263 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001270 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001508 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001511 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001582 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002187 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002208 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002361 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002465 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002761 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0003160 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0003196 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0003199 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0004322 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0005272 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0005989 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0006891 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0007392 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0007457 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000023 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000028 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000047 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000164 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000174 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000252 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000308 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000319 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000348 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000368 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000465 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000494 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000670 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000767 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0001156 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0001256 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0001511 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0001622 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0002006 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0002208 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0002750 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0003196 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0003298 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0004209 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0004279 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0004322 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0004467 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0006101 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0007477 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0007598 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0008872 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0009804 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0010669 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0010720 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1786 Acrofacial dysostosis, Catania type HP:0200055 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000047 ORPHA:1784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000048 ORPHA:1784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000119 ORPHA:1784 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000175 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000218 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000232 ORPHA:1784 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000248 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000316 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000337 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000455 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000494 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000508 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000625 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0001053 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0001088 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0001156 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0001798 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0002120 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0002983 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0004132 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0004322 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0005930 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0009882 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0010864 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0011304 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0011800 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0100335 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0100490 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1784 Acrofrontofacionasal dysostosis HP:0100840 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000214 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000280 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000360 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000365 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000962 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0001004 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0001071 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0001256 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0001482 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0001640 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0002321 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0005280 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0007428 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0007759 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0009830 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0012471 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0100585 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0200034 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0000256 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0000316 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0000365 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0000639 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0000648 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0000682 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0000684 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0000926 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0000944 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0001249 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0001291 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0001629 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0002376 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0002514 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0002757 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0003301 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0004322 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0004493 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0008065 ORPHA:1782 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0008479 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0011001 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1782 Dysosteosclerosis HP:0100670 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0000486 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0000518 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0000717 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0001249 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0001250 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0001263 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0001639 ORPHA:79281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0002240 ORPHA:79281 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001249 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001889 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002160 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002912 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0012120 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0031544 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000206 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000252 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000505 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000546 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000580 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000639 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000648 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001116 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001508 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001510 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001873 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0008002 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0010280 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0011968 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0100820 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000083 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000707 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000708 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000751 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000952 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001250 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001251 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001252 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001254 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001268 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001298 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001511 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001627 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001644 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001789 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001875 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001907 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001943 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001944 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001987 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002045 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002059 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002092 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002098 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002167 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002352 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002354 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002625 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002919 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0003658 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0006827 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0007010 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0008765 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0011096 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0012469 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0012758 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0030891 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0100309 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000238 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000276 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000319 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000348 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000369 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000709 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000726 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001297 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001942 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001999 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002204 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002376 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0005575 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0007258 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0012443 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0031258 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000126 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000143 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000160 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000316 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000358 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000400 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000414 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000463 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000465 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000470 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000582 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000637 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0000776 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0001252 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0001274 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0001334 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0001511 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0001629 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0001636 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0001669 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0002023 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0002575 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0002714 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0002937 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1780 Thakker-Donnai syndrome HP:0004602 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0000708 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0000980 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001249 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001250 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001254 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001263 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001288 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001508 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001980 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0002039 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0012378 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0100022 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000219 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000455 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000750 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0001328 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0002342 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0011822 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0012745 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000252 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000273 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000403 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000954 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0001156 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0001800 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0001831 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0001965 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0002355 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0002465 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0003484 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0004322 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0004602 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009611 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009644 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009648 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009650 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009778 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009882 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0010041 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0010047 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0010492 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0011304 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0011939 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0012553 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0012713 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0025502 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001889 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0002160 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0003145 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0003223 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0012120 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0031544 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0100502 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001249 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001250 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001252 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001254 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001508 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001510 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001511 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001627 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001999 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0002719 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0011968 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0012758 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0000122 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0000175 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0000206 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0000988 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001875 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0006571 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0010280 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0030746 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0003658 ORPHA:79284 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0001508 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0002153 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0002615 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0002902 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0008897 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0012606 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0000848 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0001278 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0001290 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0001944 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0002013 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0004319 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0011968 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0012112 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0025436 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:556030 Early-onset familial hypoaldosteronism HP:0000811 ORPHA:556030 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0000130 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0000272 ORPHA:1788 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0000308 ORPHA:1788 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0000426 ORPHA:1788 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0000912 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0001180 ORPHA:1788 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0001511 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0001762 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0002139 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0002410 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0030680 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0002644 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0002974 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0003038 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0003312 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0006101 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0006495 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0006501 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0008551 ORPHA:1788 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0008678 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000294 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000347 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000358 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000369 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000653 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000677 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0002750 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0004322 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0005338 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0006101 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0010044 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0011800 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0200055 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000272 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000337 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000414 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000470 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0008070 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0003312 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0011069 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0045074 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000492 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0002650 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0002705 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0003298 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0003777 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0004334 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0008065 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0100333 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0030781 ORPHA:26793 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0000952 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001518 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001629 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001631 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001655 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001985 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002045 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002098 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002240 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002876 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002910 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0003236 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0009045 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0011968 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0025502 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0000256 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001254 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001513 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001545 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001644 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001649 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001657 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001663 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001678 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001698 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001942 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001987 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002013 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002090 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002280 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002789 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002901 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0003075 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0003394 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0004756 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0008947 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0011123 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0011675 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0012531 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000375 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000407 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000512 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000518 ORPHA:231169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000572 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000575 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000662 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000682 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000716 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000738 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0000739 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0001249 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0001251 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0001263 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0001756 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0002120 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0007360 ORPHA:231169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0007730 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0008499 ORPHA:231169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0012157 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0012377 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231169 Usher syndrome type 1 HP:0100753 ORPHA:231169 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000135 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000480 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000518 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000568 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000639 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0001249 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0001513 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0003241 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0012758 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000028 ORPHA:363741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000510 ORPHA:363741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000771 ORPHA:363741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0006889 ORPHA:363741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0100702 ORPHA:363741 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0000975 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0000980 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0000988 ORPHA:29822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0001250 ORPHA:29822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0001251 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0001288 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0001337 ORPHA:29822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0002014 ORPHA:29822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0002017 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0002045 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0002360 ORPHA:29822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0002793 ORPHA:29822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0004372 ORPHA:29822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0007370 ORPHA:29822 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0011675 ORPHA:29822 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:29822 Spontaneous periodic hypothermia HP:0012378 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000303 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000327 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000484 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000508 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000565 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000581 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0001047 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0001256 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0001513 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0001822 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0006333 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0010164 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0006897 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000256 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000486 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000506 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000729 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000752 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0001609 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0002187 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0002690 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0007663 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0011344 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0100046 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0100057 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0100068 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0100271 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000252 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000369 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000601 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000750 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001249 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001258 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001260 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001263 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001347 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001508 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0002136 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0002307 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0002355 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0003487 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0006829 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0011470 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000341 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001250 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001337 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0002079 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0002373 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0011400 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0001541 ORPHA:26790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0001824 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0002017 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0002019 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0002027 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0002037 ORPHA:26790 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0002093 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0002585 ORPHA:26790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0002716 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0004298 ORPHA:26790 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0005214 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26790 Pseudomyxoma peritonei HP:0100790 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001252 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001943 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003236 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003326 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003701 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0009020 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000118 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000260 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000348 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000377 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000506 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000924 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001250 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001284 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001410 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001627 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001635 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001942 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001987 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002013 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002015 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002094 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002240 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002614 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002878 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002910 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003128 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003150 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003202 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003219 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003234 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003307 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003344 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003546 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003551 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003648 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0005280 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0011968 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0012240 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0025435 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0030199 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0045045 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000078 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000113 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000256 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001298 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001638 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001735 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002091 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002171 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002282 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002421 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002540 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003201 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003691 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0006543 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0006582 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0011675 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001508 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001942 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0003219 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0008947 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0011968 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0012758 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0045045 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0410153 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0000708 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0000750 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001250 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001254 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001332 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001397 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001638 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001999 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0002098 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0003198 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0006929 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0012734 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0000252 ORPHA:26792 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0000648 ORPHA:26792 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001276 ORPHA:26792 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001511 ORPHA:26792 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000008 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000035 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000164 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000327 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000365 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000498 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000499 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000518 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000534 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000600 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000668 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000670 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000679 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000704 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000819 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000939 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000975 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0000982 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001034 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001053 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001231 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001263 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001394 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001399 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001511 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001596 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001744 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001873 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001874 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001903 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0001928 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002024 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002205 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002216 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002240 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002514 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002575 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002650 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002664 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002665 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002745 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002757 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0002894 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0004322 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0005374 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0005528 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0008065 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0008066 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0008070 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0008404 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0008661 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0010450 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0010624 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0010885 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0011364 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0012732 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0012733 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0100585 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0100627 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0100670 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0200037 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1775 Dyskeratosis congenita HP:0200042 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468726 Severe primary trimethylaminuria HP:0410020 ORPHA:468726 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:468726 Severe primary trimethylaminuria HP:0003614 ORPHA:468726 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:468726 Severe primary trimethylaminuria HP:0000712 ORPHA:468726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468726 Severe primary trimethylaminuria HP:0031467 ORPHA:468726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468726 Severe primary trimethylaminuria HP:0031469 ORPHA:468726 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:468726 Severe primary trimethylaminuria HP:0000716 ORPHA:468726 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468726 Severe primary trimethylaminuria HP:0000718 ORPHA:468726 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468726 Severe primary trimethylaminuria HP:0000739 ORPHA:468726 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468726 Severe primary trimethylaminuria HP:0008770 ORPHA:468726 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:468726 Severe primary trimethylaminuria HP:0011999 ORPHA:468726 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000027 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000028 ORPHA:1772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000033 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000039 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000041 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000045 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000047 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000048 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000054 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000061 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000062 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000077 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000085 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000150 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000218 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000286 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000347 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000365 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000368 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000403 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000465 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000505 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000639 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000729 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000767 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000771 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0006610 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000808 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000812 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000821 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000823 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000837 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002750 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001087 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001256 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0004322 ORPHA:1772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001513 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001647 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001649 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001657 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001680 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001822 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002162 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002164 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002442 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0030680 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002650 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002967 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0010743 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0003251 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0010044 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0008689 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0008968 ORPHA:1772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0010464 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0030079 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0012741 ORPHA:1772 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0012861 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0012887 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0030680 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0040171 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0100779 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000069 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000133 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000147 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000175 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000286 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000288 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000368 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000413 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000494 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0001156 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0001176 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0001256 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0001537 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0001629 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0002000 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0002750 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0004322 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0004422 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0004467 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0007598 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0008551 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0008678 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0010720 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0011304 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0011342 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0100335 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0001251 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0002198 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0002342 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0002350 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0007033 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0100543 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000486 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000545 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000646 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000657 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0001105 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0001263 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0002363 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0007068 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0011933 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000540 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000556 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000639 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0001252 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0002599 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0003236 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000750 ORPHA:370022 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0002027 ORPHA:79273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0003163 ORPHA:79273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0010472 ORPHA:79273 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0000987 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0002018 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0002460 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0002572 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0008994 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0008997 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0009763 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0010473 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0011121 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0012217 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0040319 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0000112 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0000709 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0000992 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0001030 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0001250 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0001402 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0001649 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0002093 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0002902 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0003418 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0005325 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0007178 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0008066 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0008528 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0009937 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0012850 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0001903 ORPHA:79273 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79273 Hereditary coproporphyria HP:0001945 ORPHA:79273 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0002027 ORPHA:79276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0003163 ORPHA:79276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0010473 ORPHA:79276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0012217 ORPHA:79276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0012379 ORPHA:79276 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0000083 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0000822 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0001268 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0001649 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0002017 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0002019 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0003418 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0006824 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0009763 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0009830 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0030833 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0000711 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0000716 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0000738 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0000739 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0001250 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0001262 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0001289 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0001402 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0001945 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0002014 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0002093 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0002203 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0002354 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0002460 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0002595 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0002902 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0003270 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0003474 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0004347 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0007002 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0007024 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0007178 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0008994 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0008997 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0011999 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0040319 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0100785 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0410263 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0000016 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0000020 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0000975 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0001259 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0001337 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0100518 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79276 Acute intermittent porphyria HP:0011121 ORPHA:79276 TAS HP:0040285 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0007537 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0008066 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001030 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0040320 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001878 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0012804 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0100699 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0030756 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001790 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001072 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0000953 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001010 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0002219 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0033009 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0003401 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0000989 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0000969 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0011273 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0004447 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001923 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0020181 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0008282 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0500115 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001744 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001882 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001873 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001892 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0000618 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0100532 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0500046 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001096 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0000656 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0000938 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0100512 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0001560 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0040322 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0200041 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0005406 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0011457 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0004552 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0002797 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0000939 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0012132 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0008069 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0002860 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0012187 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0010472 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0012217 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0010473 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79277 Congenital erythropoietic porphyria HP:0009025 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000098 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000175 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000243 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000275 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000276 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000286 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000347 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000474 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0001249 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0001252 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0001347 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0001582 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0000964 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0000969 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0000989 ORPHA:79278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0000992 ORPHA:79278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0001081 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0001394 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0001410 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0001935 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0010472 ORPHA:79278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0010783 ORPHA:79278 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000028 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000049 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000239 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000286 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000303 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000316 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000319 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000369 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000411 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000431 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000494 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000506 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000508 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0001256 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0001537 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0001608 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0001928 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0002162 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0002167 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0002857 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0002967 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0003764 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0005692 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0010669 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000365 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000486 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000639 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000648 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000717 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000763 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000962 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001004 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001009 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001250 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001252 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001257 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001263 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001324 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001336 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001639 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0002071 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0002240 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0002321 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0002363 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0002376 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0003401 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0003700 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0004374 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0007256 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0007360 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0009830 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0010864 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0100585 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0100704 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0007029 ORPHA:231160 TAS HP:0040280 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0000822 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0001123 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0001250 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0001269 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0002326 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0002363 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0002621 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0012518 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0002138 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0002170 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0002616 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0002647 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0012246 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:231160 Familial cerebral saccular aneurysm HP:0040197 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000174 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000179 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000256 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000268 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000276 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000280 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000316 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000324 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000347 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000369 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000444 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000506 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000567 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000568 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0000612 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0001156 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0001249 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0001263 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0004942 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0001763 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0001831 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0002970 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0004209 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0005692 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-06] -ORPHA:1777 Temtamy syndrome HP:0007370 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-06] +ORPHA:79414 Woolly hair nevus HP:0002212 ORPHA:79414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79414 Woolly hair nevus HP:0002213 ORPHA:79414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79414 Woolly hair nevus HP:0011365 ORPHA:79414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79414 Woolly hair nevus HP:0040149 ORPHA:79414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79414 Woolly hair nevus HP:0007534 ORPHA:79414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79414 Woolly hair nevus HP:0001100 ORPHA:79414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79414 Woolly hair nevus HP:0001156 ORPHA:79414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79414 Woolly hair nevus HP:0006304 ORPHA:79414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79414 Woolly hair nevus HP:0009917 ORPHA:79414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79414 Woolly hair nevus HP:0011387 ORPHA:79414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79414 Woolly hair nevus HP:0000826 ORPHA:79414 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000083 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000206 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000365 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000405 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000421 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000505 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000508 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000572 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000597 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000639 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000648 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000651 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000716 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000790 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000873 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0000975 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001123 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001251 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001287 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001324 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001369 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001387 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001399 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001596 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001645 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001701 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001824 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001872 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0001945 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0002027 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0002039 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0002103 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0002315 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0002321 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0002633 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0002637 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0002647 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0002829 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0003326 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0003401 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0003565 ORPHA:397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0004420 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0005112 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0005216 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0005244 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0009830 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0011658 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0011675 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0012378 ORPHA:397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0012735 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0100576 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0100721 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0100758 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0100776 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397 Giant cell arteritis HP:0200042 ORPHA:397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0000028 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0000035 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0000045 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0000048 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0000051 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0000054 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0008665 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0000062 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0000137 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0001263 ORPHA:199310 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0000954 ORPHA:199310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0001053 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0010459 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0008723 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0010970 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0010987 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0012145 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199310 Tetragametic chimerism HP:0012861 ORPHA:199310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0001268 ORPHA:399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0001347 ORPHA:399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002072 ORPHA:399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000496 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000713 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000716 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000718 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000722 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000734 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000737 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000738 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000739 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000741 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0000746 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0001250 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0001288 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0001332 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0001336 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0001824 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002067 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002141 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002312 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002354 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002355 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002375 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0003324 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0004305 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0004408 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0007010 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0009088 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0025401 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0031473 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0031843 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0031845 ORPHA:399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0001262 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002059 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002063 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002169 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002300 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002340 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002500 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002540 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0002591 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0003107 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0003487 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0010794 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0030842 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0030955 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0031589 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0040140 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0045082 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0100785 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399 Huntington disease HP:0200136 ORPHA:399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000218 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000501 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000518 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000541 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000545 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000646 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000648 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000678 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000708 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000709 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000767 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000768 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000822 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0000939 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0001025 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0001083 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0001166 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0001249 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0001250 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0001387 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0001519 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0001933 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002039 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002040 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002170 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002204 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002209 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002239 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002240 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002637 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002650 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002757 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002808 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002857 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0002910 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0004337 ORPHA:394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0004374 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0004420 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0004936 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0007703 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0100026 ORPHA:394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:394 Classic homocystinuria HP:0100790 ORPHA:394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:393 46,XX testicular disorder of sex development HP:0000026 ORPHA:393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:393 46,XX testicular disorder of sex development HP:0000062 ORPHA:393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:393 46,XX testicular disorder of sex development HP:0000147 ORPHA:393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:393 46,XX testicular disorder of sex development HP:0008734 ORPHA:393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:396 Chronic hiccup HP:0100247 ORPHA:396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:396 Chronic hiccup HP:0000716 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:396 Chronic hiccup HP:0000775 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:396 Chronic hiccup HP:0001824 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:396 Chronic hiccup HP:0001944 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:396 Chronic hiccup HP:0002360 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:396 Chronic hiccup HP:0004395 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:396 Chronic hiccup HP:0100738 ORPHA:396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000708 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001288 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002011 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002061 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002156 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002160 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002493 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0003286 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0007340 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0012379 ORPHA:395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000725 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001250 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001251 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001268 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002313 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002518 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0003658 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0009830 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0410263 ORPHA:395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000709 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001249 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001254 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001263 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001269 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001328 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001345 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001508 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001727 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001977 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002069 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002104 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002315 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002500 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002625 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0006827 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0007359 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0008872 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0008935 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0012444 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0100543 ORPHA:395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000238 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000252 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000478 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000639 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000648 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001297 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0001298 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002119 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002121 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0002123 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0000767 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0000889 ORPHA:392 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0000912 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0001171 ORPHA:392 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0001387 ORPHA:392 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0030680 ORPHA:392 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0005916 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0001199 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0001629 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0001631 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0001678 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0002650 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0002808 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0004757 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0006501 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0009777 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0011705 ORPHA:392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0000772 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0001643 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0001679 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0002974 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0003063 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0004383 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0006101 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0006695 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0009829 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0010772 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0011304 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:392 Holt-Oram syndrome HP:0200021 ORPHA:392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0000252 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0000256 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0000286 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0000400 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0000411 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0000486 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0000494 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0000717 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0000995 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0001249 ORPHA:199318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0001250 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0001252 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0001263 ORPHA:199318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0002007 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0030680 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0004209 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0004322 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0005274 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0007018 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0007302 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0100753 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0002665 ORPHA:391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0002716 ORPHA:391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0005374 ORPHA:391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0012378 ORPHA:391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0000975 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0000989 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0001824 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0001945 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0002039 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0004396 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0012735 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0100749 ORPHA:391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0000988 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0001251 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0001744 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0002076 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0002093 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0002105 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0002240 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0002653 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0002664 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0002797 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0005528 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391 Classic Hodgkin lymphoma HP:0009830 ORPHA:391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000219 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000307 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000331 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000592 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0001518 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0002007 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0002714 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0002750 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0004209 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0004322 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0004482 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0008897 ORPHA:231137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000066 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000322 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000324 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000325 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000460 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000527 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000582 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000975 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0001212 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0001786 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0001943 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0002213 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0006889 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0008872 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0009890 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0011342 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0011471 ORPHA:231137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0002164 ORPHA:1401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0002212 ORPHA:1401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0009755 ORPHA:1401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0000072 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0000175 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0000190 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0000316 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0000958 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0000966 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0001251 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0002710 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0005280 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0006349 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0010297 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0030011 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0100750 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0200160 ORPHA:1401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0004704 ORPHA:1401 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0001270 ORPHA:1401 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1401 CHAND syndrome HP:0200041 ORPHA:1401 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031825 ORPHA:240094 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031434 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031908 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0005329 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0001621 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002063 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0001337 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002141 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002505 ORPHA:240094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031814 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031937 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002304 ORPHA:240094 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000726 ORPHA:240094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000570 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002317 ORPHA:240094 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0007311 ORPHA:240094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002527 ORPHA:240094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002464 ORPHA:240094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0009053 ORPHA:240094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000571 ORPHA:240094 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000657 ORPHA:240094 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000643 ORPHA:240094 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0000511 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002068 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0002067 ORPHA:240094 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000175 ORPHA:2736 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0001539 ORPHA:2736 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000136 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000185 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000193 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000238 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0000278 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2736 Lethal omphalocele-cleft palate syndrome HP:0100333 ORPHA:2736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0000160 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0000233 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0000316 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0000322 ORPHA:1406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0000347 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0000400 ORPHA:1406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0000431 ORPHA:1406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0001156 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0005916 ORPHA:1406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0001171 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0001199 ORPHA:1406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0001231 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0006101 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0008388 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0009804 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1406 Charlie M syndrome HP:0100335 ORPHA:1406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2730 Postaxial tetramelic oligodactyly HP:0005916 ORPHA:2730 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2730 Postaxial tetramelic oligodactyly HP:0001167 ORPHA:2730 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2730 Postaxial tetramelic oligodactyly HP:0012165 ORPHA:2730 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2730 Postaxial tetramelic oligodactyly HP:0100257 ORPHA:2730 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0000365 ORPHA:2732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0000486 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0000567 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0000639 ORPHA:2732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0000648 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0001250 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0001251 ORPHA:2732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0001276 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0001347 ORPHA:2732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0002119 ORPHA:2732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0002120 ORPHA:2732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0002167 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0002353 ORPHA:2732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome HP:0002542 ORPHA:2732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0002017 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0003270 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0004399 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0008066 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0011100 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0200097 ORPHA:79403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000070 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000075 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000110 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000126 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000790 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0001561 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0001581 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0006297 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0010477 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0012227 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0100577 ORPHA:79403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0000656 ORPHA:79403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0001057 ORPHA:79403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0001059 ORPHA:79403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia HP:0008404 ORPHA:79403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0000389 ORPHA:199302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0100335 ORPHA:199302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0000220 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0000708 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0001518 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0001572 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0006332 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0009088 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0031469 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0040115 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0100336 ORPHA:199302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0000405 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0000668 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0001328 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0001537 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0001561 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0001696 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199302 Isolated cleft lip HP:0001762 ORPHA:199302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0002064 ORPHA:99013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0000012 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0000605 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0000639 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0000648 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0001272 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0001611 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0002166 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0002395 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0003200 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0003474 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0003487 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0006895 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0007018 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0007164 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0007256 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0007340 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0008322 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0011446 ORPHA:99013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0000543 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0001260 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0001761 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0002120 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0002500 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0002650 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0003484 ORPHA:99013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0001328 ORPHA:99013 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0002015 ORPHA:99013 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0002354 ORPHA:99013 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99013 Spastic paraplegia type 7 HP:0012514 ORPHA:99013 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001030 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001508 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001510 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001581 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001597 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0006297 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0008066 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0011830 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0020117 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0200035 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0200041 ORPHA:79404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001211 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001609 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001798 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001818 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001903 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002094 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0004395 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0010307 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0031446 ORPHA:79404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000003 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000010 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000014 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000016 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000070 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000072 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000081 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000107 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000126 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000481 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000939 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000969 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001057 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001596 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001602 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001615 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001644 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001944 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001955 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002013 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002019 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002043 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002087 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002090 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002098 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002860 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002878 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0003111 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0004057 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0004386 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0006000 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0008404 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0008682 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0010476 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0012227 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0100518 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0100806 ORPHA:79404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0000999 ORPHA:79404 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001250 ORPHA:79404 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0001662 ORPHA:79404 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0002107 ORPHA:79404 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0012252 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0031464 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0000670 ORPHA:79405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0008066 ORPHA:79405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0011355 ORPHA:79405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001030 ORPHA:79405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001075 ORPHA:79405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0006297 ORPHA:79405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0008404 ORPHA:79405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001056 ORPHA:79405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001798 ORPHA:79405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0004386 ORPHA:79405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0020117 ORPHA:79405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0200097 ORPHA:79405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0000079 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0000478 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0000982 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001510 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001903 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0001965 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0002671 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0002860 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0004057 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0010562 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79405 Junctional epidermolysis bullosa inversa HP:0012056 ORPHA:79405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0000365 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0000648 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0000763 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001251 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001260 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001262 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001284 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001288 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001324 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001337 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0001761 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0002385 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0002463 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0002650 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0002808 ORPHA:99014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0003712 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0007328 ORPHA:99014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0009830 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5 HP:0040129 ORPHA:99014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0000407 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0001181 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0001249 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0001531 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0001824 ORPHA:388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0002014 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0002017 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0002019 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0002027 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0002251 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0004322 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0005214 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0012719 ORPHA:388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0100031 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0100806 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:388 Hirschsprung disease HP:0200008 ORPHA:388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001030 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001798 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0006297 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0007455 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0008066 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0008404 ORPHA:79406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0000670 ORPHA:79406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0000975 ORPHA:79406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0011355 ORPHA:79406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0020117 ORPHA:79406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0200097 ORPHA:79406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0000079 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0000478 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0000982 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001056 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001075 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001510 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001903 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0001965 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0002671 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0002860 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0004057 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0004386 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0010562 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0012056 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0012252 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79406 Late-onset junctional epidermolysis bullosa HP:0031464 ORPHA:79406 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0000639 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0000648 ORPHA:99015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0000763 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0001249 ORPHA:99015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0001251 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0001257 ORPHA:99015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0001260 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0001324 ORPHA:99015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0001347 ORPHA:99015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0001376 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0002064 ORPHA:99015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0002071 ORPHA:99015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0002204 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0002205 ORPHA:99015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0002607 ORPHA:99015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0003487 ORPHA:99015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99015 Spastic paraplegia type 2 HP:0005340 ORPHA:99015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000325 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000331 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001518 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0002750 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0004322 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0100555 ORPHA:231140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000218 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000411 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000678 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0004209 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0004325 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0004482 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0008872 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0008897 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0011220 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0100559 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0100560 ORPHA:231140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000811 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001052 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001249 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001250 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001270 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001540 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001943 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001998 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0010442 ORPHA:231140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000975 ORPHA:231140 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0001476 ORPHA:231140 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000325 ORPHA:231147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001518 ORPHA:231147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0002007 ORPHA:231147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0004209 ORPHA:231147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000175 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000324 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000924 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000975 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001263 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001511 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001622 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001627 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0001943 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0002194 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0003241 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0005484 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0008872 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0030884 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0100555 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0100559 ORPHA:231147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0001250 ORPHA:382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0000708 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002071 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002465 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0007153 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0010864 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0011344 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0100022 ORPHA:382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0000717 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0000718 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0000752 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0001251 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0001332 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002069 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002072 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002123 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002305 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002384 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0002457 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0010819 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0100716 ORPHA:382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:382 Guanidinoacetate methyltransferase deficiency HP:0001252 ORPHA:382 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000750 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001263 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001999 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0008872 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0008947 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0031936 ORPHA:477817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000708 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001388 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001531 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001627 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001760 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0002360 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0002460 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0002936 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0003693 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0009027 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0012210 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0012450 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0200101 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0410263 ORPHA:477817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000219 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000319 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000325 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000343 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000377 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000445 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000486 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000494 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000762 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0000763 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001629 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001631 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001647 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001655 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001719 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001762 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001763 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0001852 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0002136 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0002623 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0003380 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0003396 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0004691 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0004942 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0005301 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome HP:0008081 ORPHA:477817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001075 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001371 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001510 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001903 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0004057 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0004386 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0008066 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012532 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0200097 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000478 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000716 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000739 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001798 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001891 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001965 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0002860 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0008404 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0011354 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0031446 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000670 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001030 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001056 ORPHA:79408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0032676 ORPHA:79408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000083 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000099 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000160 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000572 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000794 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000823 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000938 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000939 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001057 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001581 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001644 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001917 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0002015 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0002020 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0002839 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0004395 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0004791 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0010296 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0011936 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012056 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012227 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012390 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012622 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0031831 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0031903 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0008366 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0100508 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0100512 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0200020 ORPHA:79408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000079 ORPHA:79408 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0031464 ORPHA:79408 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0000982 ORPHA:79408 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0002671 ORPHA:79408 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0006297 ORPHA:79408 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0012252 ORPHA:79408 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:385 Neurodegeneration with brain iron accumulation HP:0000488 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:385 Neurodegeneration with brain iron accumulation HP:0000648 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:385 Neurodegeneration with brain iron accumulation HP:0001257 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:385 Neurodegeneration with brain iron accumulation HP:0001260 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:385 Neurodegeneration with brain iron accumulation HP:0001272 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:385 Neurodegeneration with brain iron accumulation HP:0001332 ORPHA:385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:385 Neurodegeneration with brain iron accumulation HP:0002063 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:385 Neurodegeneration with brain iron accumulation HP:0002071 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:385 Neurodegeneration with brain iron accumulation HP:0002072 ORPHA:385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:385 Neurodegeneration with brain iron accumulation HP:0012675 ORPHA:385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001030 ORPHA:79409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0000079 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0000670 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001056 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001075 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001798 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0004386 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0008066 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0008404 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0011355 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0031464 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0200097 ORPHA:79409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0000402 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001510 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001903 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0002043 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0004057 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0007446 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0012227 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0025416 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0200020 ORPHA:79409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0000478 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0000982 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0001965 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0002671 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0002860 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0006297 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0012056 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0012252 ORPHA:79409 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:384 Huriez syndrome HP:0000958 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:384 Huriez syndrome HP:0000982 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:384 Huriez syndrome HP:0001597 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:384 Huriez syndrome HP:0001792 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:384 Huriez syndrome HP:0008065 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:384 Huriez syndrome HP:0011838 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:384 Huriez syndrome HP:0100679 ORPHA:384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0000325 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001508 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001511 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001518 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001562 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0002750 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0004209 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0004322 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0008897 ORPHA:231144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0000324 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001270 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001328 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001537 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0001558 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0004482 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0008846 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0008947 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0011220 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication HP:0011800 ORPHA:231144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000023 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000028 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000071 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000079 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000160 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000174 ORPHA:2719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000252 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000268 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000407 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000463 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000478 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000504 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000518 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000545 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000639 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000656 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000691 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000963 ORPHA:2719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001107 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001139 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001166 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001172 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001249 ORPHA:2719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001251 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001257 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001305 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001347 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001376 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001510 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001608 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0001903 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0002071 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0002305 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0002353 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0002510 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0003196 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0004322 ORPHA:2719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0005280 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0005561 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0005599 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0007256 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0007730 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0007957 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0008056 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0100022 ORPHA:2719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0000238 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0000499 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0000534 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0000639 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0000952 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001053 ORPHA:381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001249 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001250 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001251 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001252 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001257 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001263 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001315 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001541 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001744 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001873 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001874 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001882 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0001945 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0002021 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0002084 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0002216 ORPHA:381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0002218 ORPHA:381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0002240 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0002716 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0002721 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0003119 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0004313 ORPHA:381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0004322 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0005528 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0006824 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0007730 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0010741 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0011364 ORPHA:381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0012115 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:381 Griscelli syndrome HP:0100022 ORPHA:381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000238 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000256 ORPHA:380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000316 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000348 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000431 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000506 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0000776 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001162 ORPHA:380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001177 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001250 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001256 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001274 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001363 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001537 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001770 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001830 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0001841 ORPHA:380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0002007 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0005616 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0006101 ORPHA:380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0010059 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:380 Greig cephalopolysyndactyly syndrome HP:0011304 ORPHA:380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0006292 ORPHA:199306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0000175 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0000202 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0000220 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0000403 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0000750 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0002033 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0008872 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0009088 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0100334 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0200136 ORPHA:199306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0000405 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0000689 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0001611 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0004395 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0006342 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0010294 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0011044 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0100337 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0200153 ORPHA:199306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199306 Cleft lip/palate HP:0000327 ORPHA:199306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0045075 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0000691 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0000692 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0000982 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0008070 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0001231 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0001596 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0001800 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0002231 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0006482 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2722 Odonto-onycho dysplasia-alopecia syndrome HP:0009804 ORPHA:2722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000083 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000112 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000175 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000202 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000238 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000276 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000368 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000426 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000463 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000486 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000508 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000612 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000639 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000657 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0000864 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0001161 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0001249 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0001250 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0001251 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0001252 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0001263 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0001274 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0001288 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0001320 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0001337 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0002084 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0002104 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0002126 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0002251 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0002419 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0002553 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0030680 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0002650 ORPHA:220497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0002793 ORPHA:220497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0004422 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220497 Joubert syndrome with renal defect HP:0011968 ORPHA:220497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0001399 ORPHA:2724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0002015 ORPHA:2724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0030680 ORPHA:2724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0002621 ORPHA:2724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0011068 ORPHA:2724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome HP:0012819 ORPHA:2724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0000175 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0000269 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0000316 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0000368 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0000518 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0001166 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0001376 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0001511 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0001852 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0030680 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0002644 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0002974 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0003272 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0004209 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0004322 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0004493 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0006487 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0006703 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0009832 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0012368 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome HP:0100335 ORPHA:2725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002067 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0006921 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002063 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0001337 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000496 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0001268 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002527 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002172 ORPHA:240085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002098 ORPHA:240085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002068 ORPHA:240085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0001332 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002548 ORPHA:240085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000741 ORPHA:240085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000716 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0010794 ORPHA:240085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000511 ORPHA:240085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000570 ORPHA:240085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002167 ORPHA:240085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0000739 ORPHA:240085 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome HP:0002354 ORPHA:240085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000175 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000202 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000238 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000276 ORPHA:220493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000368 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000426 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000463 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000480 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000486 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000508 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000556 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000572 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000612 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000639 ORPHA:220493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000657 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0000864 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001161 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001249 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001250 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001251 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001252 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001263 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001274 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001288 ORPHA:220493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001320 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001337 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001651 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0001829 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0002084 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0002104 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0002126 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0002251 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0002419 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0002553 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0030680 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0002650 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0002793 ORPHA:220493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0003468 ORPHA:220493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0004422 ORPHA:220493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220493 Joubert syndrome with ocular defect HP:0011968 ORPHA:220493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000028 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000046 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000093 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000252 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000356 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000365 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000403 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000508 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000568 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000581 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000646 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000685 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000687 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000691 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000750 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0001018 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0001256 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0001270 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0001511 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0008551 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0008897 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0030148 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000175 ORPHA:2728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0001631 ORPHA:2728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0012619 ORPHA:2728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0012768 ORPHA:2728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000463 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000483 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000520 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001090 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001562 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001629 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001633 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001650 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001711 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001744 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001883 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0002025 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0002079 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0002144 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0002219 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0002566 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0002650 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0003196 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0003396 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0005280 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0005325 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0005487 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0005989 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0010445 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0010804 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0010864 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0012583 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0100876 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000074 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000126 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000175 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000194 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000430 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000431 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000465 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000637 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000750 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000998 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001249 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001263 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001270 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001382 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001627 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0002714 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0008850 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0008947 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0011039 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0011800 ORPHA:2729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000252 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000508 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001385 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0001539 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0002020 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0002711 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0010442 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0010807 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000020 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000136 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000316 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000336 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000369 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2729 Okamoto syndrome HP:0000400 ORPHA:2729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0008066 ORPHA:79410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0011355 ORPHA:79410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0012221 ORPHA:79410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000987 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000989 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001030 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001056 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001075 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001231 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001798 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0007446 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0008388 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0008404 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0010562 ORPHA:79410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000478 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000670 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001792 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0004057 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0030350 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0045059 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0200037 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0200041 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0200097 ORPHA:79410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000079 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0000982 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001510 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001903 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0001965 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0002671 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0002860 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0004386 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0006297 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0012056 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0012252 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0031464 ORPHA:79410 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0000230 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0000246 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0000388 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0000964 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0000992 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0001034 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0001287 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0001744 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0001874 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0001945 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0002021 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0002024 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0002205 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0002240 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0002575 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0006510 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0012733 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0100523 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0100533 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0100721 ORPHA:379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0100806 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:379 Chronic granulomatous disease HP:0200042 ORPHA:379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0011354 ORPHA:79411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001030 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001056 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001075 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001798 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0008066 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0008404 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0009723 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0200097 ORPHA:79411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0000670 ORPHA:79411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001057 ORPHA:79411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0200041 ORPHA:79411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001000 ORPHA:79411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0000079 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0000478 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0000982 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001510 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001903 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0001965 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0002671 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0002860 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0004057 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0004386 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0006297 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0012056 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0012252 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79411 Self-improving dystrophic epidermolysis bullosa HP:0031464 ORPHA:79411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000091 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000218 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000238 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000365 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000518 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000613 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0000639 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001107 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001166 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001249 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001250 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001251 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001263 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001276 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001874 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0001931 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0002363 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0003272 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0004322 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0004349 ORPHA:2720 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0007360 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0007513 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0007730 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0010662 ORPHA:2720 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0010978 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type HP:0011364 ORPHA:2720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0011789 ORPHA:90673 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0000851 ORPHA:90673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0002925 ORPHA:90673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0006579 ORPHA:90673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0025484 ORPHA:90673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0031219 ORPHA:90673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0031507 ORPHA:90673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0000158 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0001254 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0001265 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0001537 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0001662 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0002019 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0003265 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0004491 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0005930 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0005990 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0008223 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0008828 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0008872 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0025429 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0031220 ORPHA:90673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0000969 ORPHA:90673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0001252 ORPHA:90673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0002045 ORPHA:90673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0000853 ORPHA:90673 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90673 Hypothyroidism due to TSH receptor mutations HP:0030057 ORPHA:90673 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0005990 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0008245 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0025483 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0031098 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0031208 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0031219 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0031507 ORPHA:90674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000053 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000158 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000270 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000282 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000870 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000958 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001265 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001508 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001510 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001537 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001609 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001615 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0002019 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0002045 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0002690 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0002750 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0003124 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0003265 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0004491 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0005280 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0005930 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0006579 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0008828 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0008872 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0012378 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0012758 ORPHA:90674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001252 ORPHA:90674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001254 ORPHA:90674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0001662 ORPHA:90674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0002312 ORPHA:90674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0007018 ORPHA:90674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000716 ORPHA:90674 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0000853 ORPHA:90674 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90674 Isolated thyroid-stimulating hormone deficiency HP:0030057 ORPHA:90674 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0000750 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001252 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001508 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001649 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001824 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001873 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001876 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001892 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0002013 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0100502 ORPHA:35858 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0200118 ORPHA:35858 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0410216 ORPHA:35858 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001889 ORPHA:35858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001972 ORPHA:35858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0004821 ORPHA:35858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0000093 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0000980 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001875 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0001923 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0004823 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0020061 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0032566 ORPHA:35858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0000206 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0000707 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0002019 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0002376 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0004396 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0030318 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0031936 ORPHA:35858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35858 Imerslund-Gräsbeck syndrome HP:0002721 ORPHA:35858 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0010797 ORPHA:252054 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0002017 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0002315 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0002321 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0006880 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0009711 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0010576 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0030915 ORPHA:252054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0000011 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0003484 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0007340 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0009713 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0012534 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0030144 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0100661 ORPHA:252054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252054 Hemangioblastoma HP:0000238 ORPHA:252054 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0000478 ORPHA:99000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0000504 ORPHA:99000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0000505 ORPHA:99000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0000551 ORPHA:99000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0001123 ORPHA:99000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0001139 ORPHA:99000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0007677 ORPHA:99000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0007730 ORPHA:99000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99000 Adult-onset foveomacular vitelliform dystrophy HP:0007899 ORPHA:99000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0000790 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0000967 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0001698 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0001701 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0001873 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0001903 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0002094 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0002829 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0003138 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0003236 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0003326 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0003493 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0003565 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0005184 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0005421 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0011227 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0025300 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0025343 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0030057 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0045042 ORPHA:231111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0001945 ORPHA:231111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0045073 ORPHA:231111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231111 Drug-induced lupus erythematosus HP:0025142 ORPHA:231111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357154 Oral submucous fibrosis HP:0000160 ORPHA:357154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357154 Oral submucous fibrosis HP:0000163 ORPHA:357154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357154 Oral submucous fibrosis HP:0000211 ORPHA:357154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357154 Oral submucous fibrosis HP:0000600 ORPHA:357154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357154 Oral submucous fibrosis HP:0001371 ORPHA:357154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357154 Oral submucous fibrosis HP:0012182 ORPHA:357154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357154 Oral submucous fibrosis HP:0100825 ORPHA:357154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002172 ORPHA:240071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002527 ORPHA:240071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000514 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0001268 ORPHA:240071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0030953 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000633 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000622 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000643 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000613 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0007086 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0100710 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0007164 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000605 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002068 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0001300 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0006921 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002067 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002141 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000511 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002530 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002304 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0001337 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0001260 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0007158 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0001332 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0000570 ORPHA:240071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0007256 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240071 Classic progressive supranuclear palsy syndrome HP:0002548 ORPHA:240071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0011123 ORPHA:542592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0025528 ORPHA:542592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0000819 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0001030 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0001075 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0002814 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0010783 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0011990 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0032217 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0032252 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0100585 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0200034 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0200035 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0200036 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0200042 ORPHA:542592 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0000271 ORPHA:542592 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0001155 ORPHA:542592 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0001965 ORPHA:542592 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0002973 ORPHA:542592 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0000820 ORPHA:542592 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542592 Necrobiosis lipoidica HP:0002860 ORPHA:542592 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000164 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000174 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000175 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000176 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000275 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000343 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000365 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000407 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000426 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000456 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000482 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000501 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000508 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000518 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000541 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000568 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000612 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000677 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000684 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0000692 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0001083 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0001169 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0001249 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0001263 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0001634 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0001643 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0001671 ORPHA:2712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0001765 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0002553 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0002566 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0002650 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0002857 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0002967 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0002974 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0004209 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0004691 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0004969 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0006315 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0008872 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0009778 ORPHA:2712 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0010327 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0010339 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2712 Oculofaciocardiodental syndrome HP:0011090 ORPHA:2712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000568 ORPHA:2714 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0002099 ORPHA:2714 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000175 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000252 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000391 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000400 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000518 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000555 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001249 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001257 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001263 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001382 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001511 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0001773 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0002705 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0004322 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0006913 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0007370 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0007968 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0008386 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0200055 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000501 ORPHA:2714 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000541 ORPHA:2714 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0002283 ORPHA:2714 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000083 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000093 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000154 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000275 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000298 ORPHA:2715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000303 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000400 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000486 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000505 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000518 ORPHA:2715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0000648 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001053 ORPHA:2715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001252 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001257 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001264 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001266 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001347 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0001852 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0002187 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0002650 ORPHA:2715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0004322 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0005692 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0007360 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0007703 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0008046 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0009748 ORPHA:2715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0010620 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0010669 ORPHA:2715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2715 Severe oculo-renal-cerebellar syndrome HP:0100820 ORPHA:2715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0200063 ORPHA:220460 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0004783 ORPHA:220460 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0005227 ORPHA:220460 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0006753 ORPHA:220460 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0030255 ORPHA:220460 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0100896 ORPHA:220460 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0000131 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0000854 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0005562 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0009592 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0010614 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0012740 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0040276 ORPHA:220460 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220460 Attenuated familial adenomatous polyposis HP:0007649 ORPHA:220460 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2717 Oculotrichoanal syndrome HP:0000316 ORPHA:2717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2717 Oculotrichoanal syndrome HP:0000456 ORPHA:2717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2717 Oculotrichoanal syndrome HP:0000528 ORPHA:2717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2717 Oculotrichoanal syndrome HP:0000568 ORPHA:2717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2717 Oculotrichoanal syndrome HP:0000579 ORPHA:2717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2717 Oculotrichoanal syndrome HP:0000636 ORPHA:2717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2717 Oculotrichoanal syndrome HP:0001126 ORPHA:2717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2717 Oculotrichoanal syndrome HP:0001545 ORPHA:2717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2717 Oculotrichoanal syndrome HP:0002025 ORPHA:2717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2717 Oculotrichoanal syndrome HP:0010720 ORPHA:2717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0000980 ORPHA:101096 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0001896 ORPHA:101096 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0005528 ORPHA:101096 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0002094 ORPHA:101096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0005561 ORPHA:101096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0012378 ORPHA:101096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0000716 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0000978 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0000712 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0001626 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0001873 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0001875 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0001876 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0001892 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0001945 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0005407 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0010978 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0011117 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0012133 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0030197 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0031393 ORPHA:101096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0000726 ORPHA:101096 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0002716 ORPHA:101096 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101096 Aregenerative anemia HP:0100543 ORPHA:101096 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0000764 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0002495 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0002936 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0003202 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0003447 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0007141 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0007249 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0007267 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0007328 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0008959 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0008994 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0008997 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0009053 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0010830 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0011096 ORPHA:101097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0000925 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001171 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001284 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001315 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001371 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001604 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001609 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001761 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001762 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0002317 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0002359 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0002505 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0003731 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0006858 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0007233 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0008954 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0011727 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0030237 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0031629 ORPHA:101097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0000765 ORPHA:101097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0001270 ORPHA:101097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0000762 ORPHA:101097 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0000989 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0003341 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0007446 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0007497 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0007585 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0008066 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0025238 ORPHA:79400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0002046 ORPHA:79400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0003401 ORPHA:79400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0003489 ORPHA:79400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0012513 ORPHA:79400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0200035 ORPHA:79400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0000975 ORPHA:79400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0007556 ORPHA:79400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0010765 ORPHA:79400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0031446 ORPHA:79400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0200041 ORPHA:79400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0001056 ORPHA:79400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0001075 ORPHA:79400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0008404 ORPHA:79400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0030350 ORPHA:79400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0200097 ORPHA:79400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79400 Localized epidermolysis bullosa simplex HP:0009123 ORPHA:79400 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0000982 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0001030 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0001034 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0007446 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0008066 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0020073 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0031045 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0200041 ORPHA:79401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0000164 ORPHA:79401 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0000478 ORPHA:79401 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0001627 ORPHA:79401 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0002012 ORPHA:79401 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000011 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000161 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000175 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000187 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000286 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000303 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000316 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000347 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000348 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000365 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000366 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000405 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000430 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000446 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000463 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000478 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000482 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000486 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000490 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000501 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000504 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000505 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000518 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000525 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000545 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000582 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000598 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000601 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000639 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000648 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000670 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000679 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000682 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000889 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000940 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000944 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000982 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0008070 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001156 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001161 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001177 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001231 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001249 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001250 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001251 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001257 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001260 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001288 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001324 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001347 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001537 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001597 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001629 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001770 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0001943 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0002212 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0002213 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0002217 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0002299 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0002313 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0002514 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0030680 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0003067 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0003103 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0003196 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0003312 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0004209 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0004437 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0000463 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0006101 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0006323 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0007360 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0008499 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0008572 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0009804 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0009843 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0010109 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0010761 ORPHA:2710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0011342 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0011675 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0030084 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0100335 ORPHA:2710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0100490 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2710 Oculodentodigital dysplasia HP:0100774 ORPHA:2710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0000982 ORPHA:79402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001000 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001056 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001057 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001075 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001510 ORPHA:79402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001798 ORPHA:79402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0001903 ORPHA:79402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0002231 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0004552 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0006297 ORPHA:79402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0008066 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0008404 ORPHA:79402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa HP:0200097 ORPHA:79402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000938 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000939 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001007 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001369 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001495 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001999 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0002797 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0003040 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0005922 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0006234 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0009139 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0045039 ORPHA:371428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000248 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000916 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001230 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001482 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001626 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0003312 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0005441 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0011355 ORPHA:371428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000147 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000315 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000612 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000822 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001059 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001085 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001249 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001539 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001629 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001631 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001634 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001647 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001678 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001680 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0001719 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0002659 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0005994 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0010314 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0100651 ORPHA:371428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003324 ORPHA:34516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0001260 ORPHA:34516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0002015 ORPHA:34516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003551 ORPHA:34516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003557 ORPHA:34516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003715 ORPHA:34516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003805 ORPHA:34516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0002505 ORPHA:34516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0012548 ORPHA:34516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0030951 ORPHA:34516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0004303 ORPHA:34516 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0010548 ORPHA:34516 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0002615 ORPHA:97292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0003115 ORPHA:97292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0005162 ORPHA:97292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0009805 ORPHA:97292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0001635 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0001658 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0001695 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0002094 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0004372 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0006670 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0012418 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0030830 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0030848 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0030851 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0030876 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0100520 ORPHA:97292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0001289 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0001653 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0001942 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0002151 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0002321 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0003259 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0012251 ORPHA:97292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0001259 ORPHA:97292 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97292 Cardiogenic shock HP:0001708 ORPHA:97292 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001052 ORPHA:97297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0012758 ORPHA:97297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000243 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000252 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000293 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000297 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000520 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000589 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000648 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000664 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000998 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001105 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001274 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001376 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001511 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001525 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001662 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002013 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002079 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002104 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002187 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002205 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002360 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002540 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002719 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002803 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002870 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0003049 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0004322 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0005487 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0006471 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0006863 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0006895 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0008872 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0008936 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0010733 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0010864 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0012537 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0040082 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000016 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000175 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000278 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000316 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000347 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000368 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000431 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000463 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0000767 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001250 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001305 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001373 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002119 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0005280 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0006070 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0010291 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0011003 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0012448 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0012453 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0410030 ORPHA:97297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001081 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001640 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001671 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0001734 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002667 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97297 Bohring-Opitz syndrome HP:0002885 ORPHA:97297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003236 ORPHA:34515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003560 ORPHA:34515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003701 ORPHA:34515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0030099 ORPHA:34515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0001290 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0002515 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003547 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003749 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0005109 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0008981 ORPHA:34515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0001270 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0001644 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0002359 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0002650 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0003551 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0009046 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34515 FKRP-related limb-girdle muscular dystrophy R9 HP:0030092 ORPHA:34515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0000853 ORPHA:97290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0002730 ORPHA:97290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0002733 ORPHA:97290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0002757 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0002895 ORPHA:97290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0003002 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0003003 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0005994 ORPHA:97290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0006528 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0006735 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0006766 ORPHA:97290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0011798 ORPHA:97290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0012288 ORPHA:97290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia HP:3000037 ORPHA:97290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001249 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001344 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002136 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0008947 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0010862 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0012758 ORPHA:438213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000478 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000504 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000549 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000977 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001250 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001262 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001270 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001332 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002019 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002045 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002104 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002267 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002307 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002540 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002791 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002870 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0005957 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0010536 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0010863 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0011968 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0012171 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0100247 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0100512 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0100660 ORPHA:438213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000119 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000278 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000293 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000486 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000540 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000565 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000639 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000818 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000924 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000939 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001336 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001385 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001388 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001627 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002002 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002015 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002020 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002058 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002079 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0002650 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0004305 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0004322 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0007193 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0007655 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0007874 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0009890 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0010818 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0011097 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0011951 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0012448 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0012704 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0025313 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0030890 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0031622 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0100704 ORPHA:438213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000028 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000076 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000126 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000139 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000543 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000787 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000821 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000826 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000870 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0000938 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001331 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001629 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001631 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001642 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001643 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001647 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001655 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001903 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0011747 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0031253 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0040303 ORPHA:438213 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0000327 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0000343 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0000518 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0000520 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0000541 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0000545 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0000572 ORPHA:90653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0001249 ORPHA:90653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0001634 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0002758 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0002829 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0003196 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0004327 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0005930 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0100734 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0000175 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0000407 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0000926 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0002652 ORPHA:90653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90653 Stickler syndrome type 1 HP:0005692 ORPHA:90653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000028 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000174 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000179 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000233 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000238 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000286 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000316 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000365 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000368 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000400 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000463 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000465 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000670 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0000767 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001156 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001231 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001249 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001639 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001642 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0001800 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0002002 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0002162 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0002209 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0002750 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0003196 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0004322 ORPHA:2701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0005108 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0009811 ORPHA:2701 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair HP:0100840 ORPHA:2701 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90654 Stickler syndrome type 2 HP:0000407 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90654 Stickler syndrome type 2 HP:0000488 ORPHA:90654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90654 Stickler syndrome type 2 HP:0000518 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90654 Stickler syndrome type 2 HP:0000541 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90654 Stickler syndrome type 2 HP:0000545 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90654 Stickler syndrome type 2 HP:0004327 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90654 Stickler syndrome type 2 HP:0007957 ORPHA:90654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90654 Stickler syndrome type 2 HP:0000175 ORPHA:90654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0001250 ORPHA:438216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0001263 ORPHA:438216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0002098 ORPHA:438216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0008872 ORPHA:438216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0002058 ORPHA:438216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0011344 ORPHA:438216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000218 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000219 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000252 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000276 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000286 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000293 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000297 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000324 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000348 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000430 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000431 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000455 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000463 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000506 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000545 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000582 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000637 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000736 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000739 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0001251 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0001332 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0002007 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0002136 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0002267 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0006481 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0006829 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0008572 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0010804 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0011081 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0011220 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0012899 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0100660 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0001321 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0002120 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0002334 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0005306 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0010733 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0011427 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0012157 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0100308 ORPHA:2703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0000238 ORPHA:2703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0001250 ORPHA:2703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0000010 ORPHA:2704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0000020 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0000028 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0000076 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0000083 ORPHA:2704 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0000126 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0000796 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0000822 ORPHA:2704 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0001959 ORPHA:2704 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0002019 ORPHA:2704 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2704 Ochoa syndrome HP:0002607 ORPHA:2704 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0000407 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0000762 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002355 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002936 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0007108 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009053 ORPHA:90658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0000615 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0001288 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0001761 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002166 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002172 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002522 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002600 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0008944 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0008962 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009027 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009049 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009130 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0010829 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0010830 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0010832 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0011727 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0012074 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0012391 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0030211 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0030237 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0031006 ORPHA:90658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0000360 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0001171 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0001263 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0001765 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002141 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0002540 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0003376 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0008110 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0008124 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009473 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0009916 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0011476 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90658 Charcot-Marie-Tooth disease type 1E HP:0012735 ORPHA:90658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000248 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000252 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000278 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000347 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000582 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000587 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000648 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001166 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001249 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001263 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001328 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001833 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0002094 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0002098 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0002878 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0005469 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000154 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000159 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000177 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000233 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000275 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000276 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000286 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000319 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000322 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000384 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000482 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000486 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000506 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000545 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000581 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000639 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000691 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001508 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001510 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0002223 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0002705 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0010547 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0011968 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0012745 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0045074 ORPHA:2707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001135 ORPHA:2707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0001139 ORPHA:2707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0008665 ORPHA:2707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51083 Familial short QT syndrome HP:0012232 ORPHA:51083 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:51083 Familial short QT syndrome HP:0001662 ORPHA:51083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51083 Familial short QT syndrome HP:0001962 ORPHA:51083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51083 Familial short QT syndrome HP:0005110 ORPHA:51083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51083 Familial short QT syndrome HP:0001279 ORPHA:51083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51083 Familial short QT syndrome HP:0001645 ORPHA:51083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51083 Familial short QT syndrome HP:0001663 ORPHA:51083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51083 Familial short QT syndrome HP:0001678 ORPHA:51083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51083 Familial short QT syndrome HP:0004308 ORPHA:51083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0000762 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002460 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003202 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003474 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0007141 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0007220 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0011402 ORPHA:101085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001155 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001270 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001284 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001761 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002066 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002070 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002317 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002346 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002378 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002403 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002495 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003376 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003387 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0004463 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0007149 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0007327 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0007328 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0008944 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0009027 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0009053 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0009130 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0010831 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0010873 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0030237 ORPHA:101085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0000020 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0000407 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0000609 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001252 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0001260 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002380 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002650 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003394 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003401 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0003691 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0008956 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0008994 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0008997 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0012452 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0012473 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0012785 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0030319 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0100543 ORPHA:101085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101085 Charcot-Marie-Tooth disease type 1F HP:0002540 ORPHA:101085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0100521 ORPHA:97289 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0100634 ORPHA:97289 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0045026 ORPHA:97289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0100721 ORPHA:97289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0001824 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0002730 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0003118 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0003154 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0005345 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0007457 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0012735 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0030829 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0100568 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0100570 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0100749 ORPHA:97289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0000870 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0000938 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0002893 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0003072 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0004724 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0006767 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0008200 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0008261 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97289 Thymic neuroendocrine tumor HP:0011761 ORPHA:97289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370103 Primary dystonia, DYT17 type HP:0001260 ORPHA:370103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370103 Primary dystonia, DYT17 type HP:0001618 ORPHA:370103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370103 Primary dystonia, DYT17 type HP:0007325 ORPHA:370103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370103 Primary dystonia, DYT17 type HP:0000473 ORPHA:370103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370103 Primary dystonia, DYT17 type HP:0012179 ORPHA:370103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370103 Primary dystonia, DYT17 type HP:0001300 ORPHA:370103 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:370103 Primary dystonia, DYT17 type HP:0002120 ORPHA:370103 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000175 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000316 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000336 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000365 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000431 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000494 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000674 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0000677 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0005916 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0001256 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0001376 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0001850 ORPHA:90650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0001852 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0002652 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0002684 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0002738 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0003042 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0004279 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0005048 ORPHA:90650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0005280 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0005640 ORPHA:90650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0006487 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0009623 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0009778 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0009882 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0010109 ORPHA:90650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90650 Otopalatodigital syndrome type 1 HP:0011001 ORPHA:90650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0001265 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0001288 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0001761 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0002460 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0002936 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0003202 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0003431 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0003448 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0007108 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0010871 ORPHA:101081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0002141 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0002751 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0003401 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0007131 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0008981 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0009113 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0010833 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0030834 ORPHA:101081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0006801 ORPHA:101081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000047 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000126 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000160 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000162 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000175 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000201 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000238 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000239 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000272 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000316 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000336 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000337 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000347 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000365 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000369 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000377 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000494 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000518 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000674 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000677 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000772 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0000774 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001087 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0005916 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001249 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001263 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001321 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001508 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001539 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001654 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0001671 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002084 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002475 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002652 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002684 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002990 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0003042 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0003196 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0004279 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0005048 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0005280 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0005640 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0006000 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0006487 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0008368 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0009702 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0009778 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0010109 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0011001 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0100258 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0100490 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002089 ORPHA:90652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002650 ORPHA:90652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002738 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90652 Otopalatodigital syndrome type 2 HP:0002869 ORPHA:90652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0001324 ORPHA:101082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0000365 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0000615 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0000762 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0001284 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0002650 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0002922 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003202 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003236 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003469 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003477 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003712 ORPHA:101082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0001270 ORPHA:101082 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101082 Charcot-Marie-Tooth disease type 1B HP:0003474 ORPHA:101082 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000023 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000045 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000158 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000212 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000280 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000303 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000343 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000400 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000455 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000457 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000486 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000618 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000639 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000648 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000940 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000944 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000951 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001250 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001251 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001252 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001257 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001337 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001347 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001387 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001635 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001744 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001824 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002007 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002205 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002230 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002383 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002650 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002652 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002829 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0003307 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0003312 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0004322 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0004345 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0005280 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0005930 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0007325 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0007957 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0008046 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0010318 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0010729 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0100022 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0100490 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0100670 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001627 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002071 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002500 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000924 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0011951 ORPHA:354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0410263 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001638 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0100543 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0025013 ORPHA:354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0008166 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002376 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000943 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002015 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001332 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0040197 ORPHA:354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001508 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0011968 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001288 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002020 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001543 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0011471 ORPHA:354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001290 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0025190 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001263 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001433 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001007 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001789 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002808 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0009826 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000369 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002011 ORPHA:354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000160 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002167 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0012523 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001643 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0000926 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001622 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0500049 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001072 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0002317 ORPHA:354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:354 GM1 gangliosidosis HP:0001629 ORPHA:354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0000158 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0001667 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0002136 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0002359 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0002515 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0002938 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003236 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003458 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003484 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003551 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003557 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003691 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003707 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003730 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0004311 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0008981 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0009046 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0030007 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0100284 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0100297 ORPHA:353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0000276 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0001771 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0002650 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003391 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0003722 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0025169 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0030051 ORPHA:353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0002066 ORPHA:356 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0007340 ORPHA:356 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0012534 ORPHA:356 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0100543 ORPHA:356 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0000726 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0001260 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0001268 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0001284 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0001315 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0001317 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0002062 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0002071 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0002360 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0003401 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0011730 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0031006 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0410263 ORPHA:356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0045084 ORPHA:356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000093 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000225 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000238 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000365 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000486 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000488 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000657 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000716 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000790 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000823 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000924 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0000938 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001000 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001103 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001251 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001252 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001337 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001373 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001387 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001394 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001522 ORPHA:355 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001637 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001654 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001697 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001744 ORPHA:355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001789 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001873 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001876 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001892 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001903 ORPHA:355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0001945 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002015 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002027 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002069 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002071 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002092 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002093 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002119 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002123 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002206 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002240 ORPHA:355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002376 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002653 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002750 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002754 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002757 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002758 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002797 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002804 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0002829 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0003330 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0004322 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0004374 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0004380 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0004382 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0006530 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0006824 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0007957 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0008064 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0008872 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0010702 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0010729 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0010885 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0011001 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0011227 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0012115 ORPHA:355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0012378 ORPHA:355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:355 Gaucher disease HP:0100022 ORPHA:355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000708 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001257 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001288 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002401 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002497 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002634 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0003418 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0007024 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0008480 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0012514 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0030892 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0040161 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0100543 ORPHA:199354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000712 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000718 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000726 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000737 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000741 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001268 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001269 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001297 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002063 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002293 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002506 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0003474 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0007256 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0012671 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0012672 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0030833 ORPHA:199354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002069 ORPHA:199354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002751 ORPHA:199354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0003657 ORPHA:199354 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0008162 ORPHA:35878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0012051 ORPHA:35878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0000825 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0001263 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0001328 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0002121 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0002197 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0002342 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0007018 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0008283 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0011198 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35878 Hyperinsulinism-hyperammonemia syndrome HP:0012402 ORPHA:35878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001284 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001288 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001761 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0002378 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0002936 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0003376 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0003431 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0003444 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0008944 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0008954 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0009027 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0009053 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0011399 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0011727 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0030237 ORPHA:101076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0000407 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0000543 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001138 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001249 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001265 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0001347 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0002313 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0003487 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0006801 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0007924 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2 HP:0031866 ORPHA:101076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001270 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001284 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001288 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001760 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001761 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0002355 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0003431 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0003474 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0003693 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0007141 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0008110 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0008944 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0008954 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0009027 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0009063 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0030237 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0031936 ORPHA:101077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001265 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001337 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0001385 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0002091 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0002313 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0002540 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0002650 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0003477 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0007108 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0007149 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0008081 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3 HP:0008994 ORPHA:101077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0000365 ORPHA:101078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0000762 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0000763 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001249 ORPHA:101078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001251 ORPHA:101078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001284 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001288 ORPHA:101078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001337 ORPHA:101078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0001761 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0002360 ORPHA:101078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0002460 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0002650 ORPHA:101078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0002808 ORPHA:101078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0003202 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0007141 ORPHA:101078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4 HP:0007328 ORPHA:101078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000338 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000571 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000658 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001257 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001260 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001337 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001347 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002015 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002063 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002067 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002145 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002172 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002185 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002312 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0002548 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0004373 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0006892 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0007058 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0007153 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0010522 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0025262 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0040081 ORPHA:199351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000605 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000716 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000746 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0000751 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001250 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001263 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001332 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0001336 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0011999 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199351 Adult-onset dystonia-parkinsonism HP:0012675 ORPHA:199351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0012024 ORPHA:352 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0012379 ORPHA:352 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0012537 ORPHA:352 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0030272 ORPHA:352 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0410061 ORPHA:352 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0000028 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0000144 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0000518 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0000750 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0000786 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0000869 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0000876 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0000952 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001256 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001260 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001328 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001399 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0002013 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0002071 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0002174 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0002240 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0002345 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0004302 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0004349 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0008209 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0009088 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0011098 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0012758 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0030353 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0100543 ORPHA:352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0000083 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001251 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001254 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001288 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001298 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001332 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001394 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001508 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001892 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001928 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0002014 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0002141 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0002910 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0011968 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0100806 ORPHA:352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001250 ORPHA:352 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352 Galactosemia HP:0001541 ORPHA:352 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:351 Galactosialidosis HP:0000280 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:351 Galactosialidosis HP:0000365 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:351 Galactosialidosis HP:0000925 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:351 Galactosialidosis HP:0001249 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:351 Galactosialidosis HP:0001250 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:351 Galactosialidosis HP:0002652 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:351 Galactosialidosis HP:0003468 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:351 Galactosialidosis HP:0007957 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:351 Galactosialidosis HP:0010729 ORPHA:351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0000980 ORPHA:46532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0001744 ORPHA:46532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0001903 ORPHA:46532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0002240 ORPHA:46532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0003330 ORPHA:46532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0011904 ORPHA:46532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000217 ORPHA:289390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001097 ORPHA:289390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000077 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000707 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000739 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000951 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001970 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0002829 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0003011 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0004431 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0005195 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0011850 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0012378 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0012532 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0031950 ORPHA:289390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000083 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000099 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000708 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000716 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000958 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000965 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000979 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001045 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001250 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001287 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001317 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001324 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001369 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001871 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001873 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001882 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001888 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001895 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0001897 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0002011 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0002613 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0002633 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0002665 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0002716 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0003326 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0003474 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0004302 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0004313 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0005407 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0005421 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0005523 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0006527 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0006530 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0006536 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0010702 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0012089 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0012219 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0012387 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0030880 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0031088 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0031246 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0031452 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0031983 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0045042 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0100614 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0100646 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0100653 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0100778 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0200042 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0200123 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0410008 ORPHA:289390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0000726 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0002072 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0002143 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0007141 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0009830 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0032018 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0100543 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0100583 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289390 Primary Sjögren syndrome HP:0200120 ORPHA:289390 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0000763 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001284 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001761 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0007149 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0008944 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0040129 ORPHA:101075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0007328 ORPHA:101075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0000365 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001251 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001260 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001262 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001288 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0001337 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0002463 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0002650 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1 HP:0002808 ORPHA:101075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000033 ORPHA:347 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000037 ORPHA:347 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0100820 ORPHA:347 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000093 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000097 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000786 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000815 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000837 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0008214 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0008723 ORPHA:347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000083 ORPHA:347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000100 ORPHA:347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000150 ORPHA:347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0000822 ORPHA:347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0010464 ORPHA:347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:347 Frasier syndrome HP:0002667 ORPHA:347 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:346 Quinquaud folliculitis decalvans HP:0001581 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:346 Quinquaud folliculitis decalvans HP:0001595 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:346 Quinquaud folliculitis decalvans HP:0002232 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:346 Quinquaud folliculitis decalvans HP:0004552 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:346 Quinquaud folliculitis decalvans HP:0010783 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:346 Quinquaud folliculitis decalvans HP:0100699 ORPHA:346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:346 Quinquaud folliculitis decalvans HP:0200039 ORPHA:346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0000164 ORPHA:349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0000248 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0000280 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0000365 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0000821 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0000943 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0000975 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0001063 ORPHA:349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0001250 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0001252 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0001257 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0001263 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0001508 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0001597 ORPHA:349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0001626 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0001640 ORPHA:349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0001999 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0002240 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0002510 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0002808 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0003199 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0005264 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0005595 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0007256 ORPHA:349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0007957 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0008155 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0008430 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0010864 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0011220 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0011276 ORPHA:349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:349 Fucosidosis HP:0100578 ORPHA:349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001249 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001250 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001270 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002119 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002539 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0007033 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0007266 ORPHA:101070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0000565 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001263 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001317 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0001320 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002141 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002463 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0007256 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0010864 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0012110 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0025190 ORPHA:101070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0000252 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0000486 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002123 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0002365 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0010819 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0011147 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0040194 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001942 ORPHA:348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001943 ORPHA:348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0003128 ORPHA:348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0012379 ORPHA:348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002013 ORPHA:348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002014 ORPHA:348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002149 ORPHA:348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0003162 ORPHA:348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0004913 ORPHA:348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0000737 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0000980 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001249 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001250 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001252 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001259 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001262 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001397 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001649 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001946 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0001998 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002094 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002098 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002119 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002240 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002329 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002876 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0002910 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0003265 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0004372 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0004879 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0005949 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0006582 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0040301 ORPHA:348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:348 Fructose-1,6-bisphosphatase deficiency HP:0003348 ORPHA:348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0001249 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0001269 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0002539 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0006872 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0006891 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0006956 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0007359 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0012758 ORPHA:101071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0002069 ORPHA:101071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0011185 ORPHA:101071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0012704 ORPHA:101071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0002123 ORPHA:101071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0012469 ORPHA:101071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101071 Unilateral hemispheric polymicrogyria HP:0020220 ORPHA:101071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0000979 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001025 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001063 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001250 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001251 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001263 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001369 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001376 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001510 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0001954 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002014 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002027 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002076 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002239 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002240 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002586 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002633 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002716 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0002829 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0003261 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0003326 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0003565 ORPHA:343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0005214 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0010783 ORPHA:343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0011107 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:343 Hyperimmunoglobulinemia D with periodic fever HP:0200034 ORPHA:343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33208 Idiopathic hypersomnia HP:0001262 ORPHA:33208 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33208 Idiopathic hypersomnia HP:0002360 ORPHA:33208 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33208 Idiopathic hypersomnia HP:0100786 ORPHA:33208 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0000093 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0000100 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0000112 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0000121 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0000988 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0001055 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0001250 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0001287 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0001369 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0001541 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0001658 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0001701 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0001733 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0001744 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0001945 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002014 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002017 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002019 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002024 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002027 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002102 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002586 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002633 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002716 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002745 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002758 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0002829 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0003326 ORPHA:342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0003565 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0005214 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0005244 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0006554 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0010741 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0010783 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0011675 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0100749 ORPHA:342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:342 Familial Mediterranean fever HP:0100796 ORPHA:342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:345 Dissecting cellulitis of the scalp HP:0000969 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:345 Dissecting cellulitis of the scalp HP:0000989 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:345 Dissecting cellulitis of the scalp HP:0001482 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:345 Dissecting cellulitis of the scalp HP:0001581 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:345 Dissecting cellulitis of the scalp HP:0001595 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:345 Dissecting cellulitis of the scalp HP:0100658 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:345 Dissecting cellulitis of the scalp HP:0100809 ORPHA:345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0000127 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0000407 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0000848 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0000859 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0001249 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0001250 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0001251 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0001263 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0002197 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0002900 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0002917 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0005567 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0012591 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0012606 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0030083 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0200114 ORPHA:199343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0000805 ORPHA:199343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0001959 ORPHA:199343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0002345 ORPHA:199343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0001272 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0001344 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0002355 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0002540 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0003477 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0007182 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199343 EAST syndrome HP:0007340 ORPHA:199343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001919 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001945 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0003259 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0011037 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0012213 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0030005 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0032169 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0100520 ORPHA:340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000093 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000099 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000622 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000967 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001262 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001324 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001649 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001873 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001962 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001970 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001974 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002013 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002018 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002027 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002315 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002615 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0003326 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0003418 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0004325 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0004729 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0012378 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0025143 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0030783 ORPHA:340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000713 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000790 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000975 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001289 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001903 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002014 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002090 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002094 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002098 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002153 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002202 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002248 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002905 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002910 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0011896 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0012735 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0031273 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0031364 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0100519 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0100598 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0100785 ORPHA:340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000421 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0000822 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0001259 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002170 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002249 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0002878 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0011029 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:340 Hemorrhagic fever-renal syndrome HP:0012622 ORPHA:340 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:438274 GCGR-related hyperglucagonemia HP:0030688 ORPHA:438274 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:438274 GCGR-related hyperglucagonemia HP:0001081 ORPHA:438274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438274 GCGR-related hyperglucagonemia HP:0002027 ORPHA:438274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438274 GCGR-related hyperglucagonemia HP:0002894 ORPHA:438274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438274 GCGR-related hyperglucagonemia HP:0012440 ORPHA:438274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438274 GCGR-related hyperglucagonemia HP:0030404 ORPHA:438274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438274 GCGR-related hyperglucagonemia HP:0000819 ORPHA:438274 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:438274 GCGR-related hyperglucagonemia HP:0002044 ORPHA:438274 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:438274 GCGR-related hyperglucagonemia HP:0010280 ORPHA:438274 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:438274 GCGR-related hyperglucagonemia HP:0031181 ORPHA:438274 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0005143 ORPHA:99050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0030680 ORPHA:99050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0000961 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001508 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001631 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001635 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001643 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0002205 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0002875 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0012382 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0032092 ORPHA:99050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001629 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001636 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001669 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0002092 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0011604 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0011661 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0012303 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0030148 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0031014 ORPHA:99050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0001680 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0002089 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0004383 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0004935 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0012020 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta HP:0031934 ORPHA:99050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000505 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000543 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000544 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000648 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000649 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000758 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000762 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001250 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001257 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001270 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001272 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001324 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001347 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002015 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002353 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002376 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002521 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0004302 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0005484 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0009062 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0011968 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012087 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012696 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012736 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012751 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0025112 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0040288 ORPHA:485421 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001510 ORPHA:485421 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0011097 ORPHA:485421 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0001612 ORPHA:141127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0001561 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002098 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002778 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0005607 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0011661 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0030680 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0030828 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0030923 ORPHA:141127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0000069 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0000077 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0000119 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0000363 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0000961 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0001562 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0001629 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0001643 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0001791 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002023 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002088 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002094 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002101 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002245 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002247 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002575 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002577 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0004935 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0005151 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0012718 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0012768 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0031935 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0100867 ORPHA:141127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0000707 ORPHA:141127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0002781 ORPHA:141127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0004383 ORPHA:141127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141127 Congenital tracheal stenosis HP:0025426 ORPHA:141127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0001004 ORPHA:79452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0000034 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0000962 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0001785 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0002619 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0002624 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0003550 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0010741 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0100658 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0100797 ORPHA:79452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0000286 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0000708 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0001328 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0008069 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0100725 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0200058 ORPHA:79452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0001055 ORPHA:79452 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79452 Milroy disease HP:0001999 ORPHA:79452 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0000054 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0000225 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0000519 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0000568 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0000961 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0000978 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0001649 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0001667 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0001712 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0001892 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0001933 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0001945 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0002027 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0002179 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0002580 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0007185 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0008151 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0008734 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0009723 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0011029 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0011884 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0012223 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0012886 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0030680 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0100759 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:335 Congenital fibrinogen deficiency HP:0100845 ORPHA:335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0025081 ORPHA:79455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0000989 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0001034 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0002014 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0012733 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0025473 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0025533 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0030350 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0040186 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0200035 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0200036 ORPHA:79455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0000953 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0001072 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0002013 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0002018 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0002027 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0002094 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0002315 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0002615 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0008066 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0010783 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0031284 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0031901 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0040189 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0100585 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0200041 ORPHA:79455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0007583 ORPHA:79455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0011971 ORPHA:79455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0100665 ORPHA:79455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0100845 ORPHA:79455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79455 Cutaneous mastocytoma HP:0002716 ORPHA:79455 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001743 ORPHA:79456 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002716 ORPHA:79456 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0005547 ORPHA:79456 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0005561 ORPHA:79456 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0000989 ORPHA:79456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0011354 ORPHA:79456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0025081 ORPHA:79456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0031284 ORPHA:79456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0031901 ORPHA:79456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001025 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001072 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002013 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002014 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002315 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002615 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0004395 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0008066 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0025533 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0100827 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0100845 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0200041 ORPHA:79456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001019 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001392 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0001945 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002027 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002239 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0002240 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0009123 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0011971 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0030828 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79456 Diffuse cutaneous mastocytosis HP:0040189 ORPHA:79456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0000365 ORPHA:337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0000501 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001249 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001250 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001376 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001482 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001508 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001596 ORPHA:337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001822 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0001903 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0002093 ORPHA:337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0003306 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0003468 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0004209 ORPHA:337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0010054 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0010058 ORPHA:337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0010109 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0011987 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0011989 ORPHA:337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:337 Fibrodysplasia ossificans progressiva HP:0100240 ORPHA:337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0100845 ORPHA:79457 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0011354 ORPHA:79457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0025081 ORPHA:79457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0000989 ORPHA:79457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0010783 ORPHA:79457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0012733 ORPHA:79457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0025507 ORPHA:79457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0000737 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0001945 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002013 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002014 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002018 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002027 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002315 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002653 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0008066 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0011971 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0020172 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0031284 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0031901 ORPHA:79457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79457 Maculopapular cutaneous mastocytosis HP:0002094 ORPHA:79457 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0000028 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0000175 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0000218 ORPHA:376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0000324 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0000365 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0000767 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0001376 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0001883 ORPHA:376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0002650 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0003199 ORPHA:376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0004209 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0004322 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0006101 ORPHA:376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:376 Gordon syndrome HP:0100490 ORPHA:376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0000083 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0000093 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0000541 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0000790 ORPHA:375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0000979 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0001369 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0001903 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0001945 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0002093 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0002105 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0002113 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0002633 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0002829 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0002960 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0003326 ORPHA:375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0006335 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0012735 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0100749 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:375 Anti-glomerular basement membrane disease HP:0100820 ORPHA:375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000194 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000322 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000337 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000348 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000463 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000486 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000490 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000574 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000582 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000609 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000729 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000733 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0000750 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0001250 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0001252 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0001770 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0002079 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0002119 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0002335 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0003196 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0006913 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0010864 ORPHA:228384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0011968 ORPHA:228384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228384 5q14.3 microdeletion syndrome HP:0012639 ORPHA:228384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000028 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000044 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000238 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000248 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000286 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000303 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000316 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000431 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000464 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000486 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000501 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000506 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000518 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000612 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000670 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0000995 ORPHA:377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0001156 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0001166 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0001249 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0002007 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0002514 ORPHA:377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0002650 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0002664 ORPHA:377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0002937 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0002948 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0004408 ORPHA:377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0008422 ORPHA:377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0010610 ORPHA:377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:377 Gorlin syndrome HP:0010612 ORPHA:377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0001324 ORPHA:371 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0001903 ORPHA:371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0002149 ORPHA:371 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0002486 ORPHA:371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0003202 ORPHA:371 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0009051 ORPHA:371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000003 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000023 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000028 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000047 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000072 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000073 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000098 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000126 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000154 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000158 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000175 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000204 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000256 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000280 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000286 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000303 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000316 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000368 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000431 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000463 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000465 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000470 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000494 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000767 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000772 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0000776 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001162 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001249 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001250 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001252 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001263 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001274 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001305 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001374 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001522 ORPHA:373 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001537 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001539 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001561 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001608 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001609 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001629 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001631 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001638 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001657 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001744 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001748 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001762 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001769 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001770 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001773 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001792 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001831 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0001943 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002164 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002167 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002240 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002558 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0030680 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002650 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002664 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002667 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002705 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002884 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0002948 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0003006 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0003196 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0003212 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0003422 ORPHA:373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0004209 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0004510 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0005616 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0006101 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0008736 ORPHA:373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0009536 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0010318 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0011039 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0011304 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0011710 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:373 Simpson-Golabi-Behmel syndrome HP:0100490 ORPHA:373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0000790 ORPHA:329918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0000093 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0000793 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0000822 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0003259 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0003774 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0005421 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0012574 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0012622 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0025364 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0030888 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0031047 ORPHA:329918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0000100 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0000572 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0001919 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0002719 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0002960 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0009125 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0011510 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0025567 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0030469 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0030506 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329918 C3 glomerulopathy HP:0045042 ORPHA:329918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0012379 ORPHA:370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0030272 ORPHA:370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000707 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001397 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001508 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001510 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001946 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002013 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002014 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002155 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002194 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002240 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002910 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003124 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003162 ORPHA:370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000147 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000823 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000858 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000876 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001252 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001324 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001396 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002360 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002913 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003202 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003236 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003323 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003326 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003394 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003546 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0012378 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0030232 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0100607 ORPHA:370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0000750 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001394 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001395 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001402 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001627 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001638 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001744 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0001947 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0002040 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003201 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0003325 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0005144 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0006580 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency HP:0012028 ORPHA:370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000737 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000739 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000815 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000822 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000876 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001265 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001266 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001289 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001657 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002094 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002176 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002514 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003394 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003401 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003472 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003739 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003761 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0004305 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0004349 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0004438 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0009642 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010041 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0011458 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0011869 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0012049 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0025027 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0100749 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002199 ORPHA:79443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003528 ORPHA:79443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000852 ORPHA:79443 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000311 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002901 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002905 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003165 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0003456 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0004322 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0008227 ORPHA:79443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000293 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000470 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000518 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000639 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000684 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000824 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001156 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001249 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0001513 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002135 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002591 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0002684 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0004704 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0005280 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0006297 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0006960 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010027 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010044 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010047 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010049 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0010743 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0011001 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0011986 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0012185 ORPHA:79443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000407 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000486 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000509 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000585 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0000716 ORPHA:79443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0008202 ORPHA:79443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79443 Pseudohypoparathyroidism type 1A HP:0030057 ORPHA:79443 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000938 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000939 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001508 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0002240 ORPHA:369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0006568 ORPHA:369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000823 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001510 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001943 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001946 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0002910 ORPHA:369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000737 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001252 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001270 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001395 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0002360 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0003077 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0003270 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0003710 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0004322 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0004913 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0006580 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0030973 ORPHA:369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000077 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000093 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001394 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001402 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0001639 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0011997 ORPHA:369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000852 ORPHA:79444 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002901 ORPHA:79444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002905 ORPHA:79444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003165 ORPHA:79444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003456 ORPHA:79444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0008227 ORPHA:79444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000293 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000311 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000470 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000518 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000639 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000684 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000824 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001156 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001249 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001513 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002135 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002591 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0004322 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0004704 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0005280 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0006297 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0006960 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0010044 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0010047 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0010049 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0010743 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0011986 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0012185 ORPHA:79444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000509 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000716 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000737 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000739 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000815 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0000876 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001265 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001289 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0001657 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002094 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002514 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003394 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003401 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003472 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003739 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0003761 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0009642 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0010041 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0011001 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0011458 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0012049 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0025027 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0100749 ORPHA:79444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0002199 ORPHA:79444 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0008202 ORPHA:79444 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79444 Pseudohypoparathyroidism type 1C HP:0030057 ORPHA:79444 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003236 ORPHA:368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003546 ORPHA:368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0009051 ORPHA:368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0030231 ORPHA:368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0030234 ORPHA:368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003201 ORPHA:368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003652 ORPHA:368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003710 ORPHA:368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0008305 ORPHA:368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0040319 ORPHA:368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0001324 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0001639 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0001649 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0001919 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0002875 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003202 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003738 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0008967 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0009073 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0012378 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0030973 ORPHA:368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0002015 ORPHA:368 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0005216 ORPHA:368 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0012622 ORPHA:368 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0000311 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0001156 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0004322 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0009237 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0010044 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0010047 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0010743 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0011986 ORPHA:79445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0000750 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0001249 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0001511 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0001513 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0004180 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0009650 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0025027 ORPHA:79445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0000818 ORPHA:79445 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0002901 ORPHA:79445 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0002905 ORPHA:79445 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79445 Pseudopseudohypoparathyroidism HP:0003165 ORPHA:79445 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0000750 ORPHA:141152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0002094 ORPHA:141152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0011470 ORPHA:141152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0011968 ORPHA:141152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0000171 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0000347 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0001824 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0002098 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0002781 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0006265 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0011471 ORPHA:141152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0000175 ORPHA:141152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0005483 ORPHA:141152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0010566 ORPHA:141152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0011951 ORPHA:141152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141152 Isolated congenital hypoglossia/aglossia HP:0012478 ORPHA:141152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001324 ORPHA:365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0009073 ORPHA:365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0010471 ORPHA:365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0012379 ORPHA:365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001265 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001270 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001284 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001508 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001640 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001712 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002093 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002240 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002355 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002747 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002875 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003236 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003391 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003458 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003546 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003551 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0007340 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0008872 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0011947 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0012378 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0025435 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0030148 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0030231 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0031964 ORPHA:365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000158 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000183 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000297 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000365 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000508 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0000939 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001260 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001639 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002015 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002098 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002326 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002540 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002633 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002650 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002878 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003307 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0003324 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0004944 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0005165 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0005216 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0006824 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0008947 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0009113 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0010535 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0012532 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0012727 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0012764 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0030195 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0030196 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0031310 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0032092 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:3000062 ORPHA:365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0001371 ORPHA:365 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0002607 ORPHA:365 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0007002 ORPHA:365 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0100543 ORPHA:365 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:365 Glycogen storage disease due to acid maltase deficiency HP:0100750 ORPHA:365 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0000293 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0000991 ORPHA:364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0001250 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0001252 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0001943 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0002149 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0002205 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0002719 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0003077 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0004322 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0100543 ORPHA:364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001410 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0002240 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0011354 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0012269 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0031331 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0500032 ORPHA:367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001270 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001290 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001508 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001644 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0002910 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0003073 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0003198 ORPHA:367 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001371 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001394 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001399 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001409 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001433 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001541 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001561 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001635 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001790 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001989 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0002040 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0002093 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0002098 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0003202 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0003645 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0006829 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency HP:0008151 ORPHA:367 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0000293 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0001256 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0001943 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0002155 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0002721 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0003198 ORPHA:366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0004322 ORPHA:366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000308 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000327 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000340 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000343 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000358 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000377 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000463 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000496 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000506 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000508 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000561 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000574 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0001092 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0002553 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0004209 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0004422 ORPHA:228396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0005180 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0012471 ORPHA:228396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0000083 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0000225 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0000365 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0000421 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0000520 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0000573 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0000965 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0000979 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0000980 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0001025 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0001251 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0001297 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0001635 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0001744 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0001874 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0001897 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0001909 ORPHA:33226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0001945 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002014 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002024 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002039 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002076 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002093 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002113 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002202 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002239 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002240 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002321 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002354 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002633 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002665 ORPHA:33226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002716 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0002719 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0003565 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0004372 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0005508 ORPHA:33226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0006824 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0008046 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0009830 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0010741 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0010841 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0012378 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0100539 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0100724 ORPHA:33226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33226 Waldenström macroglobulinemia HP:0100778 ORPHA:33226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0000826 ORPHA:361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0004319 ORPHA:361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0025451 ORPHA:361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0000010 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0000027 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0000851 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0001249 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0001325 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0001639 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002445 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0100618 ORPHA:361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002960 ORPHA:361 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0000846 ORPHA:361 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0008163 ORPHA:361 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0001508 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002615 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0007440 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0011043 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0012734 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0031076 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0031214 ORPHA:361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0000127 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0001824 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002013 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002014 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002019 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002039 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002153 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002173 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002574 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002719 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0002902 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0012432 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0012605 ORPHA:361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0000028 ORPHA:361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:361 Familial glucocorticoid deficiency HP:0000098 ORPHA:361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0012174 ORPHA:360 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0025461 ORPHA:360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0000572 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0001273 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0001324 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0000712 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0002181 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0002315 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0002463 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0002500 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0003470 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0012378 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0012638 ORPHA:360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0001250 ORPHA:360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:360 Glioblastoma HP:0002354 ORPHA:360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0000076 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0000160 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0000232 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0000248 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0000286 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0000343 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0000407 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0000431 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0000506 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0000637 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0001252 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0001263 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0001291 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0001629 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0001631 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0001773 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0002020 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0002553 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0007018 ORPHA:228399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228399 8q12 microduplication syndrome HP:0009921 ORPHA:228399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0007359 ORPHA:101046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0008765 ORPHA:101046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0011185 ORPHA:101046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002381 ORPHA:101046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0011182 ORPHA:101046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002349 ORPHA:101046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002367 ORPHA:101046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0011154 ORPHA:101046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0012332 ORPHA:101046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0031951 ORPHA:101046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0000708 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0000716 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002069 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002076 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0002197 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0007334 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0100710 ORPHA:101046 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0001249 ORPHA:101046 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:101046 Autosomal dominant epilepsy with auditory features HP:0410263 ORPHA:101046 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000028 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000046 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000135 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000164 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000248 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000289 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000316 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000369 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000430 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000463 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000486 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000506 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000568 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000582 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000639 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000698 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001256 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001274 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001362 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001511 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001562 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0001596 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0002007 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0002084 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0002213 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0002335 ORPHA:228390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0002342 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0004440 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0005280 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0011803 ORPHA:228390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0030114 ORPHA:178400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0040081 ORPHA:178400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0003738 ORPHA:178400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0008963 ORPHA:178400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0009073 ORPHA:178400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0003325 ORPHA:178400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0003438 ORPHA:178400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0008954 ORPHA:178400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0009005 ORPHA:178400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0031177 ORPHA:178400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0000467 ORPHA:178400 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0003474 ORPHA:178400 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:178400 Distal myopathy with anterior tibial onset HP:0003805 ORPHA:178400 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000639 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0001010 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0001875 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0001892 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0002721 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0007443 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0007730 ORPHA:79430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000083 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000421 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000483 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000486 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000518 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000545 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000587 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000613 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000646 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000649 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000978 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0001107 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0002206 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0005599 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0400008 ORPHA:79430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000505 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000527 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000682 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000962 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0000995 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0001072 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0001638 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0001824 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0001872 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0002024 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0002027 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0002039 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0002094 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0002239 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0002671 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0006739 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79430 Hermansky-Pudlak syndrome HP:0012378 ORPHA:79430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101041 Familial hypofibrinogenemia HP:0000225 ORPHA:101041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101041 Familial hypofibrinogenemia HP:0000421 ORPHA:101041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101041 Familial hypofibrinogenemia HP:0001892 ORPHA:101041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101041 Familial hypofibrinogenemia HP:0002239 ORPHA:101041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0000505 ORPHA:79431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0000587 ORPHA:79431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0000613 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0000639 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0000649 ORPHA:79431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0000962 ORPHA:79431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0001010 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0001022 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0001072 ORPHA:79431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0001107 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0001480 ORPHA:79431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0002671 ORPHA:79431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0005599 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0006739 ORPHA:79431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0007730 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79431 Oculocutaneous albinism type 1A HP:0007750 ORPHA:79431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0000539 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0000613 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0000635 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0000639 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0001010 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0001100 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0001480 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0002226 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0005599 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0007663 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0007703 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0007730 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0007750 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0007988 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0011364 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0012805 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0025551 ORPHA:79432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0002227 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0002671 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0006739 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0012056 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0030856 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0200098 ORPHA:79432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79432 Oculocutaneous albinism type 2 HP:0007481 ORPHA:79432 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002900 ORPHA:358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001324 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001508 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001657 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002027 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002632 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002917 ORPHA:358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000017 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000093 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000128 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000805 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000823 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001952 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000855 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002017 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002901 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002918 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0003394 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0030083 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0200114 ORPHA:358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000020 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000097 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000360 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000622 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000872 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000934 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0000975 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001279 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001663 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001698 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001891 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001947 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001953 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001959 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001962 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001970 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001994 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001997 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002014 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002019 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002098 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0001262 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002315 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002321 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002514 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002619 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002829 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002894 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0002897 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0003201 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0003326 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0003401 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0003470 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0005135 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0005978 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0006789 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0009800 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0011736 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0012248 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0012250 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0012364 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0025072 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0030880 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0007359 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0100324 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0100647 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0100651 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:358 Gitelman syndrome HP:0100785 ORPHA:358 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001251 ORPHA:99027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0012332 ORPHA:99027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001257 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001288 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001324 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001337 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001347 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002066 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002493 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002936 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0003487 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0005341 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0006827 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0006958 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007256 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007366 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007377 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0011931 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0030890 ORPHA:99027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000010 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000012 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000016 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000496 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000639 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000802 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000970 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001260 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001276 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001278 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001310 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0001371 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002015 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002019 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002045 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002064 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002075 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002080 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002169 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002200 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002273 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002345 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002599 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0003326 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0004302 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0004395 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0005968 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0006886 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007351 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007360 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007369 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007370 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0007480 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0010831 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0010845 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0011951 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0100543 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0100639 ORPHA:99027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000407 ORPHA:99027 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000708 ORPHA:99027 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0000726 ORPHA:99027 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99027 Adult-onset autosomal dominant leukodystrophy HP:0002922 ORPHA:99027 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0000635 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0000639 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0001010 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0001480 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0002297 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0007730 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0011358 ORPHA:79433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0000486 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0002226 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0002227 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0025551 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0100814 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79433 Oculocutaneous albinism type 3 HP:0200098 ORPHA:79433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0000486 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0000505 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0000587 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0000613 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0000639 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0000995 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0001010 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0001022 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0001072 ORPHA:79434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0001480 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0002671 ORPHA:79434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0002861 ORPHA:79434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0005599 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0006739 ORPHA:79434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0007703 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0007730 ORPHA:79434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79434 Oculocutaneous albinism type 1B HP:0007750 ORPHA:79434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0040075 ORPHA:90695 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0000044 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0000141 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0000457 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0000789 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0000824 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0001510 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0001943 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0002615 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0002920 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0004322 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0008245 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0008734 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0009888 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0010311 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0010627 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0012378 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0040086 ORPHA:90695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0000823 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0000839 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0000938 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0002019 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0002750 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0005625 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0008187 ORPHA:90695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0011755 ORPHA:90695 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90695 Non-acquired panhypopituitarism HP:0012731 ORPHA:90695 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0000639 ORPHA:79435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0007663 ORPHA:79435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0007703 ORPHA:79435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0007750 ORPHA:79435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0000613 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0001010 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0001022 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0001072 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0001107 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0005599 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0007730 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0011364 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0025551 ORPHA:79435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0003764 ORPHA:79435 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79435 Oculocutaneous albinism type 4 HP:0008069 ORPHA:79435 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0001249 ORPHA:23 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0001251 ORPHA:23 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0001987 ORPHA:23 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0002353 ORPHA:23 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0003217 ORPHA:23 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0003218 ORPHA:23 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0003355 ORPHA:23 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0004322 ORPHA:23 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0005961 ORPHA:23 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0009886 ORPHA:23 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:23 Argininosuccinic aciduria HP:0011362 ORPHA:23 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000232 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000233 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000252 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000319 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000431 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000455 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000767 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0001249 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0001270 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0001510 ORPHA:73273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0001511 ORPHA:73273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0002750 ORPHA:73273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0004279 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0004322 ORPHA:73273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0006610 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0030084 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0000467 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0000473 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0001263 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0001319 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0001558 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0002460 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0002515 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003236 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003327 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003391 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003458 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003551 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003555 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003701 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003715 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003736 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003798 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003805 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0006785 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0010628 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0012899 ORPHA:97240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97240 Zebra body myopathy HP:0003713 ORPHA:97240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0000505 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0000649 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0000708 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0001250 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0002540 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0007359 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0007367 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0007371 ORPHA:228360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0000639 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0000718 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0000752 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0001251 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0001257 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0001268 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0001272 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0001310 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0001347 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0002075 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0002078 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0002120 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0002172 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0002197 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0002312 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0002317 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0002360 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0002463 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0007015 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0010841 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0010845 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0010850 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0011166 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0011193 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0011442 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0030891 ORPHA:228360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0000729 ORPHA:228360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0000738 ORPHA:228360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0000739 ORPHA:228360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0001337 ORPHA:228360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228360 CLN5 disease HP:0008770 ORPHA:228360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000252 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000399 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000407 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000708 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000736 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000752 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000855 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001249 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001256 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001508 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001511 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001518 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001999 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0004322 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0007018 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0008527 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0008619 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0008846 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0008850 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0008897 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000135 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000153 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000347 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000684 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000939 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0002750 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0003265 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0004209 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0006266 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0030084 ORPHA:73272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000294 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000508 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000545 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000954 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000957 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001270 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001943 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0001956 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0002162 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0007911 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0011120 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0011220 ORPHA:73272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0000962 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0001019 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0001824 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0004396 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0007475 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0008064 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0008066 ORPHA:312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0000992 ORPHA:312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0000982 ORPHA:312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0100780 ORPHA:312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:312 Autosomal dominant epidermolytic ichthyosis HP:0200042 ORPHA:312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002134 ORPHA:25 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0003150 ORPHA:25 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0012379 ORPHA:25 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001260 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001332 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001334 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002015 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002275 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002305 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002315 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002339 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0004481 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0007132 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0009716 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0011968 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0012704 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0012753 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0031982 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0040194 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0100954 ORPHA:25 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0000573 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0000726 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001250 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001251 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001337 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0001373 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002063 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002072 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002086 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002119 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002321 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002376 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002451 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0002500 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0003162 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0003546 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0006829 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0007185 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0012469 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0100309 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0100543 ORPHA:25 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0009830 ORPHA:25 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:25 Glutaryl-CoA dehydrogenase deficiency HP:0012622 ORPHA:25 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000252 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000488 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000646 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001249 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001250 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001252 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001254 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001263 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001508 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001980 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0011968 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0012378 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000238 ORPHA:26 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000708 ORPHA:26 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0001288 ORPHA:26 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0030680 ORPHA:26 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0100022 ORPHA:26 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000988 ORPHA:26 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002373 ORPHA:101039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000708 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000718 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000722 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000739 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000750 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0001249 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0001270 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002069 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002133 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0010818 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0011169 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0012433 ORPHA:101039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000729 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000752 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0001256 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0001263 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002121 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002123 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002187 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0002342 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0007270 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0010819 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0010864 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0011172 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0007359 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0100710 ORPHA:101039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0000709 ORPHA:101039 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0100738 ORPHA:101039 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0000467 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0001290 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0002093 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0002650 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0003198 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0003306 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0011842 ORPHA:97244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0001265 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0002090 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0002421 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0002987 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0003089 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0003202 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0003273 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0003307 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0030878 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0031546 ORPHA:97244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0001263 ORPHA:97244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0002515 ORPHA:97244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97244 Rigid spine syndrome HP:0003391 ORPHA:97244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001942 ORPHA:20 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001958 ORPHA:20 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001987 ORPHA:20 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0003344 ORPHA:20 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000741 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001250 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001252 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001254 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001903 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001988 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002039 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002149 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002151 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002240 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002353 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002572 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002789 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002910 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0006561 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0006582 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0008151 ORPHA:20 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000952 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000969 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000980 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001256 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001259 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001265 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001298 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001336 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001824 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001882 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001894 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001944 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001945 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001974 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002014 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002104 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002342 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002521 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002615 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002919 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0010864 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0012378 ORPHA:20 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000252 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001251 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001257 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001260 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001325 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001644 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001695 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0001735 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002045 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0002352 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0011099 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012103 ORPHA:330050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000639 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000648 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001250 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001263 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001344 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002133 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002151 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002376 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002540 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012707 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0410263 ORPHA:330050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000486 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001272 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001332 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001337 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0001488 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002069 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002123 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002355 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002381 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002384 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002506 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0002650 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0003202 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0006801 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0007359 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0010553 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0011471 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012569 ORPHA:330050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0000708 ORPHA:22 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0001249 ORPHA:22 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0001251 ORPHA:22 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0001252 ORPHA:22 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0001263 ORPHA:22 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0001939 ORPHA:22 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0002069 ORPHA:22 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0002123 ORPHA:22 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:22 Succinic semialdehyde dehydrogenase deficiency HP:0002133 ORPHA:22 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0000083 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0000648 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001249 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001250 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001251 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001252 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001254 ORPHA:27 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001259 ORPHA:27 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001263 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001266 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001638 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001733 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001873 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001882 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001903 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001944 ORPHA:27 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001972 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0001987 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002017 ORPHA:27 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002093 ORPHA:27 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002167 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002240 ORPHA:27 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002273 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002385 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia HP:0002721 ORPHA:27 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0000083 ORPHA:28 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001249 ORPHA:28 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001252 ORPHA:28 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001254 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001259 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001263 ORPHA:28 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001508 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001903 ORPHA:28 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001944 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0001987 ORPHA:28 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0002017 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0002093 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:28 Vitamin B12-responsive methylmalonic acidemia HP:0002240 ORPHA:28 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0000239 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0000252 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0000268 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0000325 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0000368 ORPHA:29 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0000494 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0000518 ORPHA:29 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0000592 ORPHA:29 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0001249 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0001250 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0001251 ORPHA:29 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0001252 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0001263 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0001744 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0002120 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0002750 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29 Mevalonic aciduria HP:0004322 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0001028 ORPHA:141179 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0007466 ORPHA:141179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0007618 ORPHA:141179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0031449 ORPHA:141179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0100585 ORPHA:141179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0001015 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0001635 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0001873 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0031207 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0100784 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0410266 ORPHA:141179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141179 Non-involuting congenital hemangioma HP:0012329 ORPHA:141179 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0002197 ORPHA:307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0002392 ORPHA:307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0007000 ORPHA:307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0000153 ORPHA:307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0000496 ORPHA:307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0002121 ORPHA:307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0002373 ORPHA:307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0007207 ORPHA:307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0000718 ORPHA:307 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0002133 ORPHA:307 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:307 Juvenile myoclonic epilepsy HP:0001249 ORPHA:307 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0002372 ORPHA:306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0002104 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0002266 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0002384 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0007334 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0007359 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0010818 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0011153 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0011167 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0011169 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0007359 ORPHA:306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0000961 ORPHA:306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0001276 ORPHA:306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0002069 ORPHA:306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0002121 ORPHA:306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0045084 ORPHA:306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0002133 ORPHA:306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0011171 ORPHA:306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0011182 ORPHA:306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0002361 ORPHA:306 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:306 Benign familial infantile epilepsy HP:0410263 ORPHA:306 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:314802 Short stature due to partial GHR deficiency HP:0000823 ORPHA:314802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314802 Short stature due to partial GHR deficiency HP:0002750 ORPHA:314802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314802 Short stature due to partial GHR deficiency HP:0001510 ORPHA:314802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314802 Short stature due to partial GHR deficiency HP:0004322 ORPHA:314802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314802 Short stature due to partial GHR deficiency HP:0001943 ORPHA:314802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314802 Short stature due to partial GHR deficiency HP:0011800 ORPHA:314802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314802 Short stature due to partial GHR deficiency HP:0030353 ORPHA:314802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0000408 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0000508 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0000519 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0001252 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0001263 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0001315 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0001583 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0002079 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0003128 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0009062 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0012343 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0030089 ORPHA:330054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0001324 ORPHA:330054 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0001250 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0002085 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0002126 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0002269 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0002282 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0002349 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0003330 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0007359 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0011818 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0032046 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0045084 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0430005 ORPHA:101030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0000290 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0001338 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0002057 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0002367 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0002435 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0002475 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0011195 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0012013 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0025373 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0031006 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101030 Subependymal nodular heterotopia HP:0100022 ORPHA:101030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0001336 ORPHA:308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0002070 ORPHA:308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0002392 ORPHA:308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0007000 ORPHA:308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0001251 ORPHA:308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0001260 ORPHA:308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0002080 ORPHA:308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0000726 ORPHA:308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0000992 ORPHA:308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:308 Progressive myoclonic epilepsy type 1 HP:0001249 ORPHA:308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0001742 ORPHA:137914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0011109 ORPHA:137914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0031416 ORPHA:137914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0000961 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0001363 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0001601 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0001607 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0002098 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0002205 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0002779 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0002781 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0005321 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0011968 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0030215 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0030842 ORPHA:137914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137914 Choanal atresia HP:0010442 ORPHA:137914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0000951 ORPHA:220402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0001000 ORPHA:220402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0001053 ORPHA:220402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002015 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002017 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002020 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002092 ORPHA:220402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002206 ORPHA:220402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0002960 ORPHA:220402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0008366 ORPHA:220402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0009473 ORPHA:220402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0100579 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0100585 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0100958 ORPHA:220402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220402 Limited cutaneous systemic sclerosis HP:0200042 ORPHA:220402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0001051 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0001053 ORPHA:302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0001581 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0002715 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0002860 ORPHA:302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0007565 ORPHA:302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0100585 ORPHA:302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0200034 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0200035 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0200039 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:302 Epidermodysplasia verruciformis HP:0200043 ORPHA:302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0001320 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0001344 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002079 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002119 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002126 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002350 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002363 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002415 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0002421 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0003236 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0007361 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0008947 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0010864 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0011197 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0011344 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0025336 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0030046 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0031882 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0031936 ORPHA:370997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0000518 ORPHA:370997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0000556 ORPHA:370997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0000557 ORPHA:370997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0011003 ORPHA:370997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0000618 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0000716 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0001262 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0001262 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0012689 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73267 Non-24-hour sleep-wake syndrome HP:0025406 ORPHA:73267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0000016 ORPHA:228371 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0000217 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0000508 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0000651 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0001260 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0001324 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0002014 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0002015 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0002017 ORPHA:228371 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0002019 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0002027 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0002747 ORPHA:228371 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0003470 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0006543 ORPHA:228371 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0006597 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0006824 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0011499 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0011675 ORPHA:228371 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228371 Foodborne botulism HP:0100021 ORPHA:228371 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0001249 ORPHA:35 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0001263 ORPHA:35 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0001638 ORPHA:35 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0001943 ORPHA:35 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0001987 ORPHA:35 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0001992 ORPHA:35 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0002019 ORPHA:35 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0002240 ORPHA:35 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0003353 ORPHA:35 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0010978 ORPHA:35 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35 Propionic acidemia HP:0011675 ORPHA:35 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000023 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000028 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000047 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000098 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000256 ORPHA:36 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000260 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000269 ORPHA:36 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000316 ORPHA:36 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000340 ORPHA:36 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000407 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000776 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0000889 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0001162 ORPHA:36 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0001199 ORPHA:36 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0001305 ORPHA:36 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0007360 ORPHA:36 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0007370 ORPHA:36 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36 Acrocallosal syndrome HP:0010864 ORPHA:36 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000157 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000206 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000221 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000492 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000498 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000505 ORPHA:37 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000509 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000534 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000613 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000712 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0000958 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0001508 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0001596 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0001597 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0001807 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0001818 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0001824 ORPHA:37 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0002024 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0002028 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0002039 ORPHA:37 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0002120 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0004322 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0004396 ORPHA:37 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0008066 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0008402 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0010783 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0011354 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0100825 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0200020 ORPHA:37 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0200039 ORPHA:37 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37 Acrodermatitis enteropathica HP:0200042 ORPHA:37 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0001394 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0001433 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0001873 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0001903 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0010903 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0012202 ORPHA:101028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0000056 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0000077 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0000969 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0001009 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0001789 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0001999 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0100678 ORPHA:101028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0001263 ORPHA:101028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0001631 ORPHA:101028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0001680 ORPHA:101028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0002795 ORPHA:101028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101028 Transaldolase deficiency HP:0200128 ORPHA:101028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000085 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000158 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000162 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000218 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000219 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000293 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000341 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000343 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000347 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000368 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000378 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000405 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000463 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000527 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000664 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001249 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001263 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001513 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002086 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002553 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0004322 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0011842 ORPHA:444077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000252 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000311 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000365 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001156 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001627 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001629 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001643 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002019 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002020 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0003468 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0006528 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0011471 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0011951 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0100874 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000047 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000076 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000407 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000410 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000486 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000494 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000508 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000518 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000520 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000545 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000574 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000646 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000771 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000821 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000824 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000956 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001231 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001357 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001601 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001607 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001635 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001655 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0001800 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002092 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002099 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002212 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002616 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002645 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002714 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0002779 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0003038 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0003074 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0003196 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0004602 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0006434 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0008388 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0009894 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0009937 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0010535 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0011221 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0025313 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0030043 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0200055 ORPHA:444077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0000069 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0000316 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0000368 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0000431 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0000494 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0001263 ORPHA:30 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0001385 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0001643 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0001744 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0001903 ORPHA:30 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0002205 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0003218 ORPHA:30 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0003355 ORPHA:30 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0003526 ORPHA:30 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0005435 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30 Hereditary orotic aciduria HP:0008388 ORPHA:30 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31 Oxoglutaric aciduria HP:0000238 ORPHA:31 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31 Oxoglutaric aciduria HP:0000816 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31 Oxoglutaric aciduria HP:0001251 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31 Oxoglutaric aciduria HP:0001263 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31 Oxoglutaric aciduria HP:0001276 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31 Oxoglutaric aciduria HP:0003202 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31 Oxoglutaric aciduria HP:0004322 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31 Oxoglutaric aciduria HP:0010286 ORPHA:31 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31 Oxoglutaric aciduria HP:0012401 ORPHA:31 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31 Oxoglutaric aciduria HP:0100022 ORPHA:31 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:32 Glutathione synthetase deficiency HP:0000707 ORPHA:32 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32 Glutathione synthetase deficiency HP:0001878 ORPHA:32 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32 Glutathione synthetase deficiency HP:0001996 ORPHA:32 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32 Glutathione synthetase deficiency HP:0003343 ORPHA:32 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32 Glutathione synthetase deficiency HP:0010978 ORPHA:32 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000252 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000675 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000679 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000689 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001263 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001321 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001999 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002213 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002650 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0008070 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0045075 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001256 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001508 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002079 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002119 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002280 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002465 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002750 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0006511 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0009085 ORPHA:444072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000023 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000028 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000074 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000126 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000343 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000347 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000369 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000431 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000463 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000470 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000486 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000518 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000954 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001182 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001601 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001629 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0001634 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002365 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002418 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0002509 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0003100 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0003510 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0004970 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0005135 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0006970 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0007068 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0007835 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0008366 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0010864 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0011406 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0011800 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0012110 ORPHA:444072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33 Isovaleric acidemia HP:0001250 ORPHA:33 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33 Isovaleric acidemia HP:0001263 ORPHA:33 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33 Isovaleric acidemia HP:0001942 ORPHA:33 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0000159 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0000969 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0000989 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0001025 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0001279 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0002018 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0002315 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0002321 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0030809 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0030828 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0100326 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0100539 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0100665 ORPHA:97230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0002094 ORPHA:97230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0011971 ORPHA:97230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97230 Solar urticaria HP:0100845 ORPHA:97230 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0001288 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002094 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002091 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002747 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002792 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003202 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003236 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003458 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003555 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003557 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003722 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003803 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003805 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0008800 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0008978 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0009027 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0012764 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0031237 ORPHA:178464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002460 ORPHA:178464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0003701 ORPHA:178464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0008963 ORPHA:178464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0008981 ORPHA:178464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0100293 ORPHA:178464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0002527 ORPHA:178464 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0000972 ORPHA:38 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0025092 ORPHA:38 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0025167 ORPHA:38 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0045059 ORPHA:38 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0002955 ORPHA:38 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0025114 ORPHA:38 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0025507 ORPHA:38 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0040162 ORPHA:38 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0006089 ORPHA:38 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0025509 ORPHA:38 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0200035 ORPHA:38 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:38 Acrokeratoelastoidosis of Costa HP:0002814 ORPHA:38 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0001250 ORPHA:101029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0002269 ORPHA:101029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0002538 ORPHA:101029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0032391 ORPHA:101029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0001257 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0001324 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0001328 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0001347 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0002126 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0002699 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0010843 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0011193 ORPHA:101029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0001274 ORPHA:101029 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0002079 ORPHA:101029 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101029 Sub-cortical nodular heterotopia HP:0002134 ORPHA:101029 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000750 ORPHA:171829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0001263 ORPHA:171829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0001513 ORPHA:171829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0001999 ORPHA:171829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000256 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000293 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000341 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000486 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000582 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0001319 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0001328 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0002033 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0002591 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0007874 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0025160 ORPHA:171829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000278 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000337 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000347 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000369 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000414 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000463 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000478 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000574 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000729 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0000765 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0001182 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0001833 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0002136 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0002370 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0005280 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0008551 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171829 6q16 microdeletion syndrome HP:0031703 ORPHA:171829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000819 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0003118 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0003154 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0003466 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0012030 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030200 ORPHA:99889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000141 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000708 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000712 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000739 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000822 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000939 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000953 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000963 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000978 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001007 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001050 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001058 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001061 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001065 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001324 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001626 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001888 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001956 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001974 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002721 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0004324 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0007126 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0008221 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0010284 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0012743 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0025017 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0025383 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0025406 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030348 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0031364 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0031845 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0031891 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0100785 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0500011 ORPHA:99889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000716 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000725 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000869 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000876 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000979 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001297 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001658 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0001824 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002014 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002039 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002086 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002209 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002354 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002733 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002953 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0006749 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0011370 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0012398 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030405 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030446 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0031284 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0031589 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0040270 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0100521 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0100634 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0200042 ORPHA:99889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000709 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0000726 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002666 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002865 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0006722 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0006725 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0006753 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0010741 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0011999 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0012125 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0025269 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030357 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0030445 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0100757 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0500167 ORPHA:99889 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0002690 ORPHA:99889 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion HP:0008291 ORPHA:99889 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0001510 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0002119 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0007957 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0008053 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0011480 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0000609 ORPHA:137902 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0000538 ORPHA:137902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0007663 ORPHA:137902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0007766 ORPHA:137902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0030534 ORPHA:137902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0000567 ORPHA:137902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0002353 ORPHA:137902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0007710 ORPHA:137902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0000076 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0012547 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137902 Isolated optic nerve hypoplasia/aplasia HP:0012758 ORPHA:137902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0000964 ORPHA:330064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0000989 ORPHA:330064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0000992 ORPHA:330064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0025092 ORPHA:330064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0030350 ORPHA:330064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0001053 ORPHA:330064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0007505 ORPHA:330064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0007573 ORPHA:330064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0025127 ORPHA:330064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0100725 ORPHA:330064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0001019 ORPHA:330064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330064 Chronic actinic dermatitis HP:0003193 ORPHA:330064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0000857 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001508 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001824 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001944 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0003074 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0003076 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0006274 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0011106 ORPHA:99885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0000488 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001249 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001263 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001270 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001488 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001511 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001627 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002069 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002123 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002714 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002804 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002919 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0005487 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0005750 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0012594 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0012758 ORPHA:99885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0000124 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0000365 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001251 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001252 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0001259 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002186 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0002594 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0003477 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0010864 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0010935 ORPHA:99885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0030057 ORPHA:99885 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000135 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000496 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000505 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000508 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000543 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000551 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000718 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000738 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000771 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000822 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0000873 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001249 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001250 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001251 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001252 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001260 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001265 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001283 ORPHA:97229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001291 ORPHA:97229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001324 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001336 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001337 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0001730 ORPHA:97229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0002015 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0002093 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0002120 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0012332 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0003202 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0003690 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0004326 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0006824 ORPHA:97229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0007730 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0008002 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0010535 ORPHA:97229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97229 Riboflavin transporter deficiency HP:0010628 ORPHA:97229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0001511 ORPHA:99886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0001518 ORPHA:99886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0001944 ORPHA:99886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0003074 ORPHA:99886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0040216 ORPHA:99886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0000158 ORPHA:99886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0001537 ORPHA:99886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0004904 ORPHA:99886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0008255 ORPHA:99886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0000077 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0000079 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0000365 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0000707 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0000821 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0001250 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0001252 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0001508 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0001627 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0009800 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0012758 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0040064 ORPHA:99886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0001953 ORPHA:99886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99886 Transient neonatal diabetes mellitus HP:0030057 ORPHA:99886 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0008357 ORPHA:331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0011884 ORPHA:331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0030657 ORPHA:331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0000978 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0001342 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0001933 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0005261 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0007420 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0012233 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0030140 ORPHA:331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0000132 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0000225 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0000421 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0001058 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0001934 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0004846 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0006298 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0011889 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0011891 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0030137 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0031364 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0040232 ORPHA:331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0001399 ORPHA:331 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0002037 ORPHA:331 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331 Congenital factor XIII deficiency HP:0012324 ORPHA:331 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0005184 ORPHA:101016 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0001279 ORPHA:101016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0001688 ORPHA:101016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0005135 ORPHA:101016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0001250 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0001645 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0001664 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0004308 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0012332 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0500018 ORPHA:101016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0001197 ORPHA:101016 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0002900 ORPHA:101016 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101016 Romano-Ward syndrome HP:0000365 ORPHA:101016 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001249 ORPHA:370968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0003236 ORPHA:370968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0008947 ORPHA:370968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0030046 ORPHA:370968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0030099 ORPHA:370968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000252 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001263 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001270 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002120 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002828 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0003325 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0007015 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0008981 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0011968 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0030197 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000028 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000054 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000478 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000486 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000545 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000580 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000707 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001315 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001320 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0001321 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002079 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002093 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002119 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002465 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002518 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002650 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002827 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002878 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0003327 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0003549 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0003712 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0004637 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0002505 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0007361 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0008443 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0010628 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0010864 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0040173 ORPHA:370968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001369 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001371 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001386 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001609 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0007470 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0012379 ORPHA:333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0000707 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0000708 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001249 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001263 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001508 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001615 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002086 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002829 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0003444 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0003640 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0008947 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0010729 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0011842 ORPHA:333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0000502 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0000608 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0000766 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0000939 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001155 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001250 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001257 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001336 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001433 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001612 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001618 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001760 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001954 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002093 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002098 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002207 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002300 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002376 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002788 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002815 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0003019 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0003202 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0004322 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0005483 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0006511 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0007957 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0009811 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0011968 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0012444 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0025392 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0025405 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0025423 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0100750 ORPHA:333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0000639 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001395 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001399 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001541 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001686 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001789 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001831 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001873 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001903 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0001999 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002028 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002385 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002716 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0002910 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0006575 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0007759 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0009381 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:333 Farber disease HP:0012469 ORPHA:333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0002061 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0002064 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0002317 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0002395 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0003487 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0007020 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0008969 ORPHA:101010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0000570 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0001251 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0002936 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0003474 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0003693 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0007141 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0012407 ORPHA:101010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101010 Autosomal spastic paraplegia type 30 HP:0100275 ORPHA:101010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001250 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001320 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001385 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001629 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001999 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002007 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002015 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002020 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002033 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002079 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002119 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0002650 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0007018 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0007305 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0011229 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0012803 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0031910 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0100704 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0100716 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000478 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001249 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001252 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001263 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001511 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0001627 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0008897 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0011968 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0410263 ORPHA:494344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000028 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000047 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000076 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000119 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000286 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000347 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000365 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000368 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000453 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000463 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000483 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000486 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000508 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000545 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000565 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000567 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000568 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000577 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000581 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000612 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000648 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000659 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000708 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0000729 ORPHA:494344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001260 ORPHA:101011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001285 ORPHA:101011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002015 ORPHA:101011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002483 ORPHA:101011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001348 ORPHA:101011 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002064 ORPHA:101011 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0008994 ORPHA:101011 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001276 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001288 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0001761 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002355 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002395 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0002936 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0007350 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0008956 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0009046 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0010831 ORPHA:101011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101011 Autosomal dominant spastic paraplegia type 31 HP:0030237 ORPHA:101011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330 Congenital factor XII deficiency HP:0003645 ORPHA:330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330 Congenital factor XII deficiency HP:0004841 ORPHA:330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330 Congenital factor XII deficiency HP:0001907 ORPHA:330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330 Congenital factor XII deficiency HP:0001977 ORPHA:330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330 Congenital factor XII deficiency HP:0007985 ORPHA:330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330 Congenital factor XII deficiency HP:0012636 ORPHA:330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330 Congenital factor XII deficiency HP:0001026 ORPHA:330 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330 Congenital factor XII deficiency HP:0001892 ORPHA:330 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002897 ORPHA:99880 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0003072 ORPHA:99880 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0008200 ORPHA:99880 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002148 ORPHA:99880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002150 ORPHA:99880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0003165 ORPHA:99880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0011766 ORPHA:99880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000121 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000131 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000787 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000939 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0001959 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002015 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0003072 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0010614 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0012232 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0012378 ORPHA:99880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000083 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000107 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0000934 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0001324 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0001733 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002017 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002019 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002315 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002574 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002653 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0004398 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0008696 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0200025 ORPHA:99880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002667 ORPHA:99880 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0002890 ORPHA:99880 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0006725 ORPHA:99880 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0010788 ORPHA:99880 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0012032 ORPHA:99880 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000276 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000316 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001166 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001252 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001548 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0010864 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0011220 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0011229 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0045075 ORPHA:457359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000218 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000256 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000303 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000368 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000400 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000494 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000520 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000582 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001263 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001344 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001355 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001519 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001520 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001533 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001833 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001999 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002066 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002069 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002307 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002355 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002751 ORPHA:457359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000054 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000272 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000297 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000325 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000426 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000472 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000586 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000735 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001321 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001334 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001376 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001388 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001555 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001763 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0001998 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002119 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002120 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002808 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0002938 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0006863 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0007074 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0007204 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0011003 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0011330 ORPHA:457359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0000218 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0000252 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0000286 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0000347 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0000378 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0000463 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0000479 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0000778 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0001622 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0001662 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0001710 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0001999 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0005104 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0006695 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0008058 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0008364 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0008551 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0008619 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0009099 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0009117 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0012759 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0000384 ORPHA:40366 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0001709 ORPHA:40366 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0006493 ORPHA:40366 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0006496 ORPHA:40366 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0009760 ORPHA:40366 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000252 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000407 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000505 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001263 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002353 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000729 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000817 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001250 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001257 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001344 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002069 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002121 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002123 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002342 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002540 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0006808 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0006863 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0008947 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0010864 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0011352 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0012443 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0100704 ORPHA:457351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000278 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000430 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001319 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001873 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002019 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002079 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002120 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002283 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002509 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002521 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002553 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002721 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0003189 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0005280 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0010838 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0011229 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0011290 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0011451 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0012444 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0012469 ORPHA:457351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000733 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0001631 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002451 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0002650 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0004532 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0011471 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0020049 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0100716 ORPHA:457351 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329 Congenital factor XI deficiency HP:0001892 ORPHA:329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329 Congenital factor XI deficiency HP:0001929 ORPHA:329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329 Congenital factor XI deficiency HP:0003645 ORPHA:329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329 Congenital factor XI deficiency HP:0006298 ORPHA:329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329 Congenital factor XI deficiency HP:0010989 ORPHA:329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329 Congenital factor XI deficiency HP:0000132 ORPHA:329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329 Congenital factor XI deficiency HP:0000421 ORPHA:329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329 Congenital factor XI deficiency HP:0002239 ORPHA:329 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329 Congenital factor XI deficiency HP:0005261 ORPHA:329 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0010307 ORPHA:137935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0002098 ORPHA:137935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0011968 ORPHA:137935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0012735 ORPHA:137935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0030864 ORPHA:137935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0000329 ORPHA:137935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0000750 ORPHA:137935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0000961 ORPHA:137935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0001609 ORPHA:137935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0030828 ORPHA:137935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0002013 ORPHA:137935 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0002104 ORPHA:137935 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137935 Laryngotracheal angioma HP:0002360 ORPHA:137935 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000529 ORPHA:228346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000618 ORPHA:228346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001250 ORPHA:228346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001268 ORPHA:228346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0002505 ORPHA:228346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000550 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000646 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000648 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000709 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000716 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000718 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000726 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000739 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001007 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001061 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001251 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001260 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001662 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001712 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001922 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0002015 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0002067 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0002069 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0002354 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0002360 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0002362 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0002367 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0002839 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0007058 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0007076 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0007359 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0010872 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0011504 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0030348 ORPHA:228346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000501 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000518 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0000580 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001272 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0001583 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228346 CLN3 disease HP:0032794 ORPHA:228346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0000083 ORPHA:99879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0000121 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0000934 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0000938 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0002148 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0002150 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0002897 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0003072 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0003109 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0003165 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0008200 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0003072 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0011458 ORPHA:99879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99879 Familial isolated hyperparathyroidism HP:0040160 ORPHA:99879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001627 ORPHA:97214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0002092 ORPHA:97214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0003546 ORPHA:97214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001324 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001962 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0002875 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0004755 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0005110 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0005115 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0005317 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0012378 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0012418 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0030148 ORPHA:97214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0000961 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001217 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001254 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001392 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001541 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001609 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001629 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001631 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001643 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001681 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001694 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001708 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001891 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0002098 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0002105 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0002240 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0003270 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0004756 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0004840 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0005180 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0006695 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0010741 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0011227 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0011604 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0011712 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0012382 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0012398 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0030848 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0030849 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0031138 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0100749 ORPHA:97214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0000083 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001279 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001297 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001636 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0001892 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0002149 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0002321 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0004308 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0005518 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0006689 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0007430 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0030049 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0030828 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97214 Eisenmenger syndrome HP:0100724 ORPHA:97214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0008151 ORPHA:328 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0008321 ORPHA:328 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0004846 ORPHA:328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0006298 ORPHA:328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0000225 ORPHA:328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0000421 ORPHA:328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0000132 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0000790 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0000978 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0002239 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0005261 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0007420 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0011884 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0011891 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0012233 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0025328 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0030140 ORPHA:328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0002138 ORPHA:328 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:328 Congenital factor X deficiency HP:0011854 ORPHA:328 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0006298 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0011884 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0011890 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0011891 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0012233 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0012541 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0030137 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0030138 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0030140 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0004420 ORPHA:325 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0004936 ORPHA:325 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0003645 ORPHA:325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0008151 ORPHA:325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0008151 ORPHA:325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0040250 ORPHA:325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0000421 ORPHA:325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0001892 ORPHA:325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0002170 ORPHA:325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0005261 ORPHA:325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0000132 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0001903 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325 Congenital factor II deficiency HP:0002907 ORPHA:325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000083 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000091 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000093 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000100 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000112 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000179 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000280 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000365 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000407 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000518 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000524 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000648 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000708 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000716 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000739 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000790 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000822 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000823 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000873 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000962 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0000966 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001004 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001014 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001131 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001250 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001369 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001482 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001635 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001637 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001639 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001646 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001653 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001678 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001681 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001712 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001903 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0001945 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002017 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002024 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002027 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002039 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002093 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002094 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002097 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002321 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002326 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002376 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002571 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002823 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0002829 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0003077 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0003119 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0003326 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0004306 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0004322 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0004349 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0006510 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0007957 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0011675 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0011710 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0012378 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0100543 ORPHA:324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0100579 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0100585 ORPHA:324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324 Fabry disease HP:0100820 ORPHA:324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000003 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000028 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000252 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000278 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000337 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000343 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000369 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000411 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000486 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000494 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000508 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0045075 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001166 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001252 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001263 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001511 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001601 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0001770 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0002019 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0002514 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0004279 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0004389 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0006101 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0007678 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0010956 ORPHA:73246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0002170 ORPHA:327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0002239 ORPHA:327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0000132 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0000225 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0000421 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0000978 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0004846 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0005261 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0008151 ORPHA:327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0000138 ORPHA:327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0010881 ORPHA:327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:327 Congenital factor VII deficiency HP:0011891 ORPHA:327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0000518 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0001305 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0001320 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0002280 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0002460 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0003444 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0008944 ORPHA:73245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0000421 ORPHA:326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0005261 ORPHA:326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0000132 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0000225 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0000790 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0000978 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0001934 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0002239 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0004846 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0006298 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0007420 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0011890 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0011891 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0030137 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0030140 ORPHA:326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0002105 ORPHA:326 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0002170 ORPHA:326 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0002573 ORPHA:326 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:326 Congenital factor V deficiency HP:0100608 ORPHA:326 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0001003 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0001045 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0001258 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0001347 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002064 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002515 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002607 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002751 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0012701 ORPHA:101003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0000085 ORPHA:101003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0001250 ORPHA:101003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002218 ORPHA:101003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0002827 ORPHA:101003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101003 Autosomal recessive spastic paraplegia type 23 HP:0004322 ORPHA:101003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0030431 ORPHA:321 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0001376 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002763 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002815 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002823 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0003330 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0003959 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0004302 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0004322 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0012531 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0040069 ORPHA:321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0001369 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002673 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002857 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002991 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002992 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0003016 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0003026 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0003326 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0003474 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0003977 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0005922 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0006385 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0006487 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0008800 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0009821 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0009826 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0010049 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0010501 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0025232 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0030883 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0032510 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0040071 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0100555 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0100559 ORPHA:321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0000016 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0000896 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0000918 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0001191 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0001850 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002015 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002107 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002144 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002176 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0002318 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0003396 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0003406 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0004684 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0005214 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0006765 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0008443 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0012151 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0020110 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0031625 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0040163 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:321 Multiple osteochondromas HP:0100749 ORPHA:321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000023 ORPHA:3191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000286 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000347 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000368 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000463 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000470 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000568 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000639 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0000691 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001061 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001080 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001249 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001513 ORPHA:3191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001608 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0001682 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0002093 ORPHA:3191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0002650 ORPHA:3191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0002808 ORPHA:3191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0003119 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0004322 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0005048 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0005174 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0005978 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0007598 ORPHA:3191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0008777 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3191 Subaortic stenosis-short stature syndrome HP:0011675 ORPHA:3191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001332 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001336 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001252 ORPHA:13 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002179 ORPHA:13 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000508 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000711 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000713 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000716 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000750 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0000980 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001249 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001250 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001251 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001263 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001266 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001270 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001276 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001347 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002015 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002063 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002067 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002071 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002072 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002169 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002329 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002421 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002487 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002521 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0002527 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0003781 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0010553 ORPHA:13 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0001257 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0001258 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0001347 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0002169 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0012407 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0030051 ORPHA:101004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101004 Autosomal recessive spastic paraplegia type 24 HP:0000407 ORPHA:101004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0000822 ORPHA:320 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0002900 ORPHA:320 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0003351 ORPHA:320 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0000121 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0001508 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0001959 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0001960 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0004319 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0004322 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0011731 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0012603 ORPHA:320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0000083 ORPHA:320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0001095 ORPHA:320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0001297 ORPHA:320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0001511 ORPHA:320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0001712 ORPHA:320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320 Apparent mineralocorticoid excess HP:0012606 ORPHA:320 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000707 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001927 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002570 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002630 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0025201 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0100513 ORPHA:14 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000529 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000551 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000662 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001284 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001508 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001903 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001923 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002028 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002904 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0003073 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0003146 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0003233 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0003326 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0003563 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0004905 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0007703 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0012153 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0100512 ORPHA:14 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000510 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000575 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000938 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001251 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001260 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001310 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001397 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001761 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001762 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002013 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002066 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002136 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002240 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002403 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002493 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002495 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002751 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002910 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0003198 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0003376 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0003487 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0006858 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0007894 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0008151 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0009053 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0010831 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0025022 ORPHA:14 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000508 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000602 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000618 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0000821 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001097 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001394 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001395 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001635 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001640 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0001892 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0002878 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:14 Abetalipoproteinemia HP:0012804 ORPHA:14 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0002385 ORPHA:101005 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0008441 ORPHA:101005 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0000763 ORPHA:101005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0001258 ORPHA:101005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0012514 ORPHA:101005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0030833 ORPHA:101005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0000519 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0001087 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0003134 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0007141 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0008480 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0012513 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101005 Autosomal recessive spastic paraplegia type 25 HP:0100712 ORPHA:101005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3193 Supravalvular aortic stenosis HP:0004381 ORPHA:3193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3193 Supravalvular aortic stenosis HP:0011675 ORPHA:3193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001249 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001288 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001324 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001347 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0002061 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0002120 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0003202 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0003487 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0007141 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0030890 ORPHA:101006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0000079 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0000518 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001317 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001332 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001761 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0002650 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0006938 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0007024 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0100660 ORPHA:101006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0001265 ORPHA:101006 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0008209 ORPHA:101006 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101006 Autosomal recessive spastic paraplegia type 26 HP:0040171 ORPHA:101006 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0045087 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0000309 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0000260 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0000956 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0001513 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0002091 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0003180 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0003375 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0005257 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0008905 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0011867 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0012418 ORPHA:15 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0000238 ORPHA:15 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0002808 ORPHA:15 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0002979 ORPHA:15 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0003498 ORPHA:15 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0005619 ORPHA:15 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0009826 ORPHA:15 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0000242 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0000256 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0000365 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0000463 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0001156 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0001377 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0002007 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0002870 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0002938 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0003026 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0003194 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0003416 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0004060 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0005280 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0005819 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0008445 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0008947 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0010241 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0010536 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0011452 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:15 Achondroplasia HP:0045086 ORPHA:15 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000039 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000076 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0002836 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0004298 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0010866 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0100645 ORPHA:322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000020 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000023 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000048 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000075 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000077 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000083 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000085 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000089 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000136 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0001367 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0001539 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0004321 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0011024 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0011842 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0025489 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0030014 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0030261 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0040307 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0100599 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0100600 ORPHA:322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000028 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000069 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000110 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000238 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000252 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000271 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000290 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0000315 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0001627 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0002023 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0002025 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0002414 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0010475 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:322 Exstrophy-epispadias complex HP:0012443 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000246 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0001945 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0012378 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0012531 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0012735 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0032162 ORPHA:73263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000572 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000622 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000629 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000819 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0001291 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0001622 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0001742 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0001875 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0001993 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002013 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002014 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002018 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002027 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002105 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002107 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002113 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002202 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002248 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002315 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002383 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002583 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0004377 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0004387 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0005263 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0008066 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0011949 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0031417 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0032166 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0032172 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0032177 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0032564 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0032674 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0045026 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0100537 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0100539 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0100658 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0100721 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0100749 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0100750 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0200035 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0200039 ORPHA:73263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000083 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000123 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000265 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000421 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000508 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000520 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000541 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000544 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0000651 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0001701 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0001733 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002239 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002249 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002573 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002586 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0002797 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0004418 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0004420 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0004944 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0007185 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0012115 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0012375 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0012819 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0020101 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0025059 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0025326 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0030049 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0031369 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73263 Zygomycosis HP:0100584 ORPHA:73263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0000613 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0000670 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0000682 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0000982 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0001072 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0001131 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0001156 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0001817 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0003510 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0004279 ORPHA:3194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0000230 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0001155 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0005916 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0001167 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0001231 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0001622 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0010783 ORPHA:3194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0000365 ORPHA:3194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0000662 ORPHA:3194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3194 Corneodermatoosseous syndrome HP:0012047 ORPHA:3194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000316 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000750 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000924 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001155 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001257 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001260 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001263 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001270 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001290 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001317 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001328 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001347 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001350 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001382 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001510 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001760 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002015 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002019 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002313 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002464 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002495 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0003202 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0003484 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0003487 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0004322 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0005922 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0011094 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0012443 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0100518 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0100543 ORPHA:101000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000252 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000286 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000369 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000448 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000494 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000709 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000712 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000738 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000739 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001172 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001609 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0001761 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002064 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002360 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0002857 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0003693 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0005288 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0011098 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0011448 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0025269 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0030084 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000126 ORPHA:101000 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000023 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000027 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000028 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000098 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000175 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000179 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000276 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000286 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000316 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000324 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000389 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000486 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000581 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000582 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000639 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000670 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000679 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000682 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000684 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000709 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000716 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000717 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000733 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000739 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000771 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000789 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0000815 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001249 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001250 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001251 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001252 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001260 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001263 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001337 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001385 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001513 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001763 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0001883 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0002019 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0002020 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0002099 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0002104 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0002119 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0002167 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0002205 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0030680 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0002650 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0002665 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0002974 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0003042 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0003043 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0004209 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0005469 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0005692 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0005978 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0007018 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0008734 ORPHA:10 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0008736 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0008872 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0010807 ORPHA:10 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:10 48,XXYY syndrome HP:0012802 ORPHA:10 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome HP:0000682 ORPHA:3196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome HP:0001399 ORPHA:3196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome HP:0006297 ORPHA:3196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome HP:0011069 ORPHA:3196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0000726 ORPHA:101001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002355 ORPHA:101001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0007256 ORPHA:101001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001257 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001263 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001268 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001288 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001347 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002015 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002079 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002186 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002476 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0003134 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0006892 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0007340 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0010526 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0012075 ORPHA:101001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0001317 ORPHA:101001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0002071 ORPHA:101001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0000252 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0000316 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0000368 ORPHA:11 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0000431 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0000486 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0000582 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0000823 ORPHA:11 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0001249 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0001252 ORPHA:11 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0001263 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0001357 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0001385 ORPHA:11 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0001643 ORPHA:11 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0001671 ORPHA:11 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0001773 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0002974 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0004209 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0010978 ORPHA:11 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0100490 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0200055 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0000347 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:11 Pentasomy X HP:0004322 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0000490 ORPHA:444051 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0001263 ORPHA:444051 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0000348 ORPHA:444051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0001511 ORPHA:444051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0000316 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0000322 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0000365 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0000478 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0000598 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0000708 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0001252 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0001884 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0002007 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0002508 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0011800 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0012385 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0040019 ORPHA:444051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0001156 ORPHA:444051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444051 20q11.2 microdeletion syndrome HP:0001181 ORPHA:444051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001251 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001257 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001276 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001336 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001347 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001387 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0002020 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0002036 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0002063 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0002380 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0003552 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0100022 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0100633 ORPHA:3197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001288 ORPHA:3197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001537 ORPHA:3197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0002360 ORPHA:3197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0100790 ORPHA:3197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001249 ORPHA:3197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001250 ORPHA:3197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0001373 ORPHA:3197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3197 Hereditary hyperekplexia HP:0002827 ORPHA:3197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:16 Blue cone monochromatism HP:0000505 ORPHA:16 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:16 Blue cone monochromatism HP:0000512 ORPHA:16 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:16 Blue cone monochromatism HP:0000613 ORPHA:16 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:16 Blue cone monochromatism HP:0001131 ORPHA:16 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:16 Blue cone monochromatism HP:0007703 ORPHA:16 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:16 Blue cone monochromatism HP:0007939 ORPHA:16 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0001258 ORPHA:101007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0002395 ORPHA:101007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0003487 ORPHA:101007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0005340 ORPHA:101007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0006938 ORPHA:101007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0001260 ORPHA:101007 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0002075 ORPHA:101007 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0007377 ORPHA:101007 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101007 Autosomal recessive spastic paraplegia type 27 HP:0000407 ORPHA:101007 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0001347 ORPHA:101008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0003487 ORPHA:101008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0001761 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002061 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002063 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002064 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002172 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002317 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0002650 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0006944 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0007021 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0007340 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101008 Autosomal recessive spastic paraplegia type 28 HP:0010830 ORPHA:101008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0000399 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0000408 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0000750 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0001963 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0008596 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0011476 ORPHA:87884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0000405 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0005101 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0007670 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0011474 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0012713 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0012714 ORPHA:87884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87884 Non-syndromic genetic deafness HP:0008573 ORPHA:87884 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002912 ORPHA:17 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0012120 ORPHA:17 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001263 ORPHA:17 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003535 ORPHA:17 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0008947 ORPHA:17 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0012379 ORPHA:17 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0012751 ORPHA:17 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001249 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001298 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001397 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001508 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001510 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002059 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002151 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002240 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002490 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002910 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003128 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003202 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0008347 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0011923 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0011924 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0011968 ORPHA:17 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000252 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000407 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000486 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000508 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000718 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000736 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000975 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001250 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001266 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001276 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001332 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001336 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001371 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001639 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001943 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002013 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002020 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002045 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002098 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002104 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002205 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002317 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002352 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002360 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002487 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003200 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003201 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003557 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0012087 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0012240 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000047 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000202 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001643 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001655 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0001680 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003097 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0003219 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0004742 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0005792 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0010442 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0011611 ORPHA:17 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002395 ORPHA:101009 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0003487 ORPHA:101009 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0000365 ORPHA:101009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0001761 ORPHA:101009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002036 ORPHA:101009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002904 ORPHA:101009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0100790 ORPHA:101009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002169 ORPHA:101009 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002495 ORPHA:101009 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0007350 ORPHA:101009 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0010936 ORPHA:101009 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0001250 ORPHA:101009 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0002034 ORPHA:101009 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101009 Autosomal dominant spastic paraplegia type 29 HP:0010831 ORPHA:101009 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0000121 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0001996 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0002900 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0004349 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0004918 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0012405 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0032066 ORPHA:18 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0000128 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0000787 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0001324 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0001508 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0001510 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0002150 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0003109 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0004322 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0012608 ORPHA:18 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0000107 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0000114 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0000407 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0001944 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0001959 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0002013 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0002014 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0002019 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0002653 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0002659 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0002747 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0002748 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0002749 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0003126 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0003355 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0004396 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0011387 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0011964 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0012213 ORPHA:18 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0001878 ORPHA:18 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:18 Distal renal tubular acidosis HP:0003470 ORPHA:18 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000160 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000189 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000426 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000490 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000494 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000670 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000750 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001249 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001324 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001328 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001763 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001845 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0002352 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0002553 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0002750 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0003458 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0004322 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0010761 ORPHA:457365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000179 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000331 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000508 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000592 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000602 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0001337 ORPHA:457365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0000739 ORPHA:3198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0000975 ORPHA:3198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0002527 ORPHA:3198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0003457 ORPHA:3198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0011964 ORPHA:3198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0000712 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0000756 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0002063 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0002267 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0002355 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0012894 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0030057 ORPHA:3198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0000819 ORPHA:3198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0000821 ORPHA:3198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0002938 ORPHA:3198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3198 Stiff person spectrum disorder HP:0000707 ORPHA:3198 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003741 ORPHA:370980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001270 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001272 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001290 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001319 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001349 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001771 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002355 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002359 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002500 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003324 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003326 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003394 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003458 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0003797 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0007126 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0008180 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0012548 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0030099 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0030051 ORPHA:370980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0000252 ORPHA:370980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002350 ORPHA:370980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002751 ORPHA:370980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001302 ORPHA:370980 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002119 ORPHA:370980 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0002282 ORPHA:370980 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0001249 ORPHA:370980 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:318 Acute erythroid leukemia HP:0001876 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:318 Acute erythroid leukemia HP:0001882 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:318 Acute erythroid leukemia HP:0001903 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:318 Acute erythroid leukemia HP:0004828 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:318 Acute erythroid leukemia HP:0012133 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:318 Acute erythroid leukemia HP:0025035 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:318 Acute erythroid leukemia HP:0031020 ORPHA:318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:318 Acute erythroid leukemia HP:0005528 ORPHA:318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0001824 ORPHA:99867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0031378 ORPHA:99867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0031409 ORPHA:99867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0100749 ORPHA:99867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0001324 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0001609 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0001945 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0002094 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0002664 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0002721 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0002960 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0004313 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0012735 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0030166 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0030208 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0045026 ORPHA:99867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0000099 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0000707 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0001370 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0001909 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0001915 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0002725 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0003326 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0005560 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0007108 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0007378 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0012288 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0012410 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0012539 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0031041 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0100031 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0100279 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0100324 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0100526 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0100527 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0100614 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99867 Thymoma HP:0100787 ORPHA:99867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000252 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000365 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000411 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000501 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000518 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000958 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000988 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000992 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0001034 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0001156 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0001182 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0001595 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0001597 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0001824 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0002230 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0030680 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0004322 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0008066 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0008069 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0010783 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0012733 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000035 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000819 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0000962 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0001249 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0001596 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0005588 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0007400 ORPHA:317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:317 Erythrokeratodermia variabilis HP:0007957 ORPHA:317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0000969 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0000975 ORPHA:99868 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0001824 ORPHA:99868 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0002094 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0003473 ORPHA:99868 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0005345 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0006597 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0012378 ORPHA:99868 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0012735 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0100521 ORPHA:99868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0100540 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0100721 ORPHA:99868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99868 Thymic carcinoma HP:0100749 ORPHA:99868 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3199 Stimmler syndrome HP:0000252 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3199 Stimmler syndrome HP:0000682 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3199 Stimmler syndrome HP:0000691 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3199 Stimmler syndrome HP:0001251 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3199 Stimmler syndrome HP:0001511 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3199 Stimmler syndrome HP:0003355 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3199 Stimmler syndrome HP:0004322 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3199 Stimmler syndrome HP:0005978 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3199 Stimmler syndrome HP:0010864 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314 Erythroderma desquamativum HP:0001051 ORPHA:314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314 Erythroderma desquamativum HP:0001508 ORPHA:314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314 Erythroderma desquamativum HP:0002014 ORPHA:314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314 Erythroderma desquamativum HP:0010978 ORPHA:314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0000083 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0000164 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0000232 ORPHA:313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0000389 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0000656 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0000958 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0000962 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0000989 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0008070 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0001019 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0001597 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0001944 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0002205 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0004322 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0008064 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0008070 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0011039 ORPHA:313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0100543 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0100679 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0100758 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0100806 ORPHA:313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313 Lamellar ichthyosis HP:0100840 ORPHA:313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:316 Progressive symmetric erythrokeratodermia HP:0000982 ORPHA:316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:316 Progressive symmetric erythrokeratodermia HP:0010783 ORPHA:316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:316 Progressive symmetric erythrokeratodermia HP:0200035 ORPHA:316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0001028 ORPHA:141184 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0007466 ORPHA:141184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0007618 ORPHA:141184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0031449 ORPHA:141184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0100585 ORPHA:141184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0001015 ORPHA:141184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0001635 ORPHA:141184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0001873 ORPHA:141184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0100784 ORPHA:141184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0410266 ORPHA:141184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0010885 ORPHA:141184 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0031207 ORPHA:141184 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0100578 ORPHA:141184 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141184 Rapidly involuting congenital hemangioma HP:0012329 ORPHA:141184 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000233 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000272 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000286 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000343 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000369 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000414 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001182 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001508 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001627 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0002194 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0002705 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0007687 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0009748 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0010862 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0012745 ORPHA:485405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000154 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000278 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000280 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000293 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000486 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000540 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000545 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000574 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000739 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000752 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0000824 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001156 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001212 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001511 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001631 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001649 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001702 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0001822 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0003196 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0004691 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0007018 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0008689 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0008947 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0009237 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0011040 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0012166 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0012170 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0012450 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485405 16p12.1p12.3 triplication syndrome HP:0040025 ORPHA:485405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0000238 ORPHA:73256 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0010576 ORPHA:73256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0025354 ORPHA:73256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0030047 ORPHA:73256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0000504 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0000716 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0001251 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0002017 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0002315 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0002514 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0002516 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0008000 ORPHA:73256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0000360 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0001254 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0001259 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0002172 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0003401 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0003487 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73256 Central neurocytoma HP:0007021 ORPHA:73256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:315 Erythrokeratoderma ''en cocardes'' HP:0000962 ORPHA:315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:315 Erythrokeratoderma ''en cocardes'' HP:0001000 ORPHA:315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:315 Erythrokeratoderma ''en cocardes'' HP:0008069 ORPHA:315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:315 Erythrokeratoderma ''en cocardes'' HP:0200034 ORPHA:315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:315 Erythrokeratoderma ''en cocardes'' HP:0002664 ORPHA:315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3180 Spondylocamptodactyly syndrome HP:0000926 ORPHA:3180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3180 Spondylocamptodactyly syndrome HP:0002650 ORPHA:3180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3180 Spondylocamptodactyly syndrome HP:0100490 ORPHA:3180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0000819 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0001824 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002014 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002017 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002019 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002039 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002240 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002570 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002574 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002894 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0004396 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0004840 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0005609 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0012432 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0100833 ORPHA:97283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0001046 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0001406 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0001438 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0001541 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002239 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0005214 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0012334 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0030145 ORPHA:97283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0000820 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0000837 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0000845 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0000870 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0001031 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0003118 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002865 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002893 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0002897 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0003072 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0008200 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97283 Somatostatinoma HP:0008256 ORPHA:97283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3181 Sprengel deformity HP:0000175 ORPHA:3181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3181 Sprengel deformity HP:0000470 ORPHA:3181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3181 Sprengel deformity HP:0000473 ORPHA:3181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3181 Sprengel deformity HP:0001435 ORPHA:3181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3181 Sprengel deformity HP:0003043 ORPHA:3181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3181 Sprengel deformity HP:0008952 ORPHA:3181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002894 ORPHA:97282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002900 ORPHA:97282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0005208 ORPHA:97282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0000819 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0001824 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0001895 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0001944 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002017 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002024 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002039 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002240 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002574 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0003072 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0003324 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0003394 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0004396 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0010783 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0012432 ORPHA:97282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0001046 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0001406 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0001438 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0001541 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0012334 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0030895 ORPHA:97282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0000820 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0000837 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0000845 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0000870 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0001031 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0003118 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002747 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002893 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002896 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002897 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0003005 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0003528 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0006719 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0006731 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0008200 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0008256 ORPHA:97282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97282 VIPoma HP:0002573 ORPHA:97282 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0030445 ORPHA:97287 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0001824 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0002039 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0002090 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0002094 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0002099 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0002105 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0002730 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0004396 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0006530 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0030828 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0031246 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0100749 ORPHA:97287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0000845 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0001005 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0001399 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0001708 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0001962 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0002240 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0002615 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0003118 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0003144 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0003154 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0004385 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0005180 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0007380 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0012701 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0025428 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0030149 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0030166 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97287 Bronchial neuroendocrine tumor HP:0031566 ORPHA:97287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97286 Carney-Stratakis syndrome HP:0000360 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97286 Carney-Stratakis syndrome HP:0000365 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97286 Carney-Stratakis syndrome HP:0001824 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97286 Carney-Stratakis syndrome HP:0002015 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97286 Carney-Stratakis syndrome HP:0002027 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97286 Carney-Stratakis syndrome HP:0002239 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97286 Carney-Stratakis syndrome HP:0002668 ORPHA:97286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97286 Carney-Stratakis syndrome HP:0005214 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97286 Carney-Stratakis syndrome HP:0006824 ORPHA:97286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97286 Carney-Stratakis syndrome HP:0100723 ORPHA:97286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000161 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000202 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000252 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000356 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000365 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000413 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000568 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000601 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000612 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000921 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0001360 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0001539 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0001636 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0001829 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0002269 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0002623 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0002984 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0003022 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0003063 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0003422 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000612 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0008678 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0009601 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0009829 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0009914 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0009927 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0011467 ORPHA:3186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0100542 ORPHA:3186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0000853 ORPHA:97285 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0002665 ORPHA:97285 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0000475 ORPHA:97285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0000821 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0000872 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0001609 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0002015 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0002094 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0002716 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0002781 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0010307 ORPHA:97285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0000836 ORPHA:97285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0012531 ORPHA:97285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97285 Thyroid lymphoma HP:0002098 ORPHA:97285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000158 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000160 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000179 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000256 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000280 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000286 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000311 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000316 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000347 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000358 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000365 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000444 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000483 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000486 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000494 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000508 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000574 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000577 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000629 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000646 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000684 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000718 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000722 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000750 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001263 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000805 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000964 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001051 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001249 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001250 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001269 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001290 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001508 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001513 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001634 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001716 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001760 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0001763 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002003 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002019 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002046 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002079 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002136 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0002705 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0003186 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0004209 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0006482 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0011246 ORPHA:369950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0012680 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0100703 ORPHA:369950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0001347 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002061 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002064 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002314 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0003487 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0006895 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0007020 ORPHA:171863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002166 ORPHA:171863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002169 ORPHA:171863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0007210 ORPHA:171863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0007340 ORPHA:171863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0100561 ORPHA:171863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0001761 ORPHA:171863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0001250 ORPHA:171863 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0002921 ORPHA:171863 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0003457 ORPHA:171863 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171863 Autosomal dominant spastic paraplegia type 42 HP:0012898 ORPHA:171863 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002894 ORPHA:97280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0000206 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0000819 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0000988 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0000989 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0001824 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0001895 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0001927 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002014 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002017 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002019 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002039 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002240 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002574 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0004396 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0008066 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0010280 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0012432 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0031181 ORPHA:97280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0000716 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0001046 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0001406 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0001438 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0001541 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0001907 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002239 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002570 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0005214 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0012334 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0030145 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0030895 ORPHA:97280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0000820 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0000837 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0000845 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0000870 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0001031 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0003118 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002893 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0002897 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0003072 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0008200 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97280 Glucagonoma HP:0008256 ORPHA:97280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0000286 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0000316 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0000381 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0000405 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0000408 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0000708 ORPHA:90646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0000815 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0000823 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0002750 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0001100 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0004452 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0100503 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0100543 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0007642 ORPHA:90646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0008669 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0011384 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0011388 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90646 Deafness-hypogonadism syndrome HP:0012717 ORPHA:90646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0005184 ORPHA:90647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0008619 ORPHA:90647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0011476 ORPHA:90647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0001279 ORPHA:90647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0001664 ORPHA:90647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0007185 ORPHA:90647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0011675 ORPHA:90647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0030973 ORPHA:90647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0001250 ORPHA:90647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0001663 ORPHA:90647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90647 Jervell and Lange-Nielsen syndrome HP:0001891 ORPHA:90647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3188 Congenital pulmonary veins atresia or stenosis HP:0000822 ORPHA:3188 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3188 Congenital pulmonary veins atresia or stenosis HP:0001671 ORPHA:3188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3188 Congenital pulmonary veins atresia or stenosis HP:0002093 ORPHA:3188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3188 Congenital pulmonary veins atresia or stenosis HP:0030680 ORPHA:3188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3189 Congenital pulmonary valvar stenosis HP:0001602 ORPHA:3189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3189 Congenital pulmonary valvar stenosis HP:0001631 ORPHA:3189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3189 Congenital pulmonary valvar stenosis HP:0030680 ORPHA:3189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0000364 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0000504 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0000708 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0000739 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0000825 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0000842 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0000975 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0001250 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0001254 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0001259 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0001337 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0001958 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0001962 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0001988 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0002044 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0002494 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0002591 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0003324 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0003401 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0004324 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0004372 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0006476 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0006767 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0007159 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0008200 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0008283 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0010534 ORPHA:97279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0010832 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0011446 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0012051 ORPHA:97279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0012378 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0100631 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0100634 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97279 Insulinoma HP:0100785 ORPHA:97279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0002894 ORPHA:97278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0100833 ORPHA:97278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0001438 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0001824 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0002014 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0002017 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0002019 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0002039 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0002240 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0002574 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0004396 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0030144 ORPHA:97278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0001046 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0001081 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0001406 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0001541 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0002239 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0005214 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0006723 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0012334 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0030145 ORPHA:97278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0000820 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0000837 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0000845 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0000870 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0001031 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0003118 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0002893 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0002897 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0003072 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0008200 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97278 PPoma HP:0008256 ORPHA:97278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000822 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002013 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002018 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002019 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002027 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002039 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0003270 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0012378 ORPHA:330015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000124 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000684 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000708 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000716 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000988 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0001328 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0001518 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0001622 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0001903 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002315 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002354 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002460 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002715 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0005268 ORPHA:330015 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0005560 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002795 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0007010 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0007015 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0007018 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0031058 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0032155 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0100511 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0100512 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0100543 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0100785 ORPHA:330015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000140 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000735 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000789 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000798 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0000823 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0001249 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0001250 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0001259 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0001298 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0001970 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002099 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002270 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002750 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0002843 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0003141 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0003212 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0003233 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0003474 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0004437 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0005368 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0007178 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0009830 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0012207 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0012622 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0012864 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0030018 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0031429 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:330015 Lead poisoning HP:0040306 ORPHA:330015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0003712 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0007204 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0007256 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0007260 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002282 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0012443 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000485 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000486 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000518 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000525 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000545 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000589 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000609 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000648 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001250 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001256 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001274 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001347 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002085 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002119 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002126 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002169 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002350 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0006899 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0006955 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0012110 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0012695 ORPHA:370959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000541 ORPHA:370959 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000568 ORPHA:370959 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000618 ORPHA:370959 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001638 ORPHA:370959 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0003236 ORPHA:370959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0003741 ORPHA:370959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0030046 ORPHA:370959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0030099 ORPHA:370959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000158 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000238 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000252 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001263 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001317 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0001321 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002198 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002363 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002365 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0002938 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0003701 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0003707 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000235 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000316 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000347 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000444 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000543 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0001250 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0002120 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0007370 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0100672 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000252 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000494 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000518 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0001639 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0002353 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0011304 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0001249 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0001257 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0001276 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0002063 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0002133 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0002301 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3175 X-linked spasticity-intellectual disability-epilepsy syndrome HP:0003552 ORPHA:3175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0000848 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001942 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0002153 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0002902 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0011740 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0040085 ORPHA:171876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001531 ORPHA:171876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001944 ORPHA:171876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0002013 ORPHA:171876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0031274 ORPHA:171876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0200117 ORPHA:171876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001047 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001081 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0001824 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0002754 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0003508 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0008872 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0011110 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0011675 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0012735 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0030828 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0200039 ORPHA:171876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0001007 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0001250 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0001518 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0001762 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0002205 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0002808 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0004322 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0005280 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0008780 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0010864 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0000518 ORPHA:85288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0001344 ORPHA:85288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0003144 ORPHA:85288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0000286 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0000486 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0000750 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type HP:0000752 ORPHA:85288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0000736 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0000772 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0000826 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0000830 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0000863 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0001249 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0001273 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0001290 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0001328 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0002418 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0002474 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0003468 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0100710 ORPHA:280195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0000252 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0001355 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0001545 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0001680 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0002015 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0004478 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0007375 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0011471 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0012110 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0012650 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0031913 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85295 HSD10 disease, atypical type HP:0000708 ORPHA:85295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85295 HSD10 disease, atypical type HP:0001249 ORPHA:85295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85295 HSD10 disease, atypical type HP:0100022 ORPHA:85295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0000407 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0000565 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0000648 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0001251 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0001252 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85297 X-linked spinocerebellar ataxia type 3 HP:0001263 ORPHA:85297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0002073 ORPHA:85292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0000726 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0001270 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0002174 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0002354 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0002355 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85292 X-linked spinocerebellar ataxia type 4 HP:0007256 ORPHA:85292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000023 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000154 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000322 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000363 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000448 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000470 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000494 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000664 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000752 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001344 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002167 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002342 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0004209 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0004279 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0008736 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0010720 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0010807 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0010864 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0200021 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0200055 ORPHA:85293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000179 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000218 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000256 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000581 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000718 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001337 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001513 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001761 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001773 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001852 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002136 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002650 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0004322 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0004326 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0008734 ORPHA:85293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000135 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000252 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000286 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000956 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000975 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001250 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0001770 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002353 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002721 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002808 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0002967 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0004422 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0005692 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0100490 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome HP:0000256 ORPHA:85294 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome HP:0000718 ORPHA:85294 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome HP:0001250 ORPHA:85294 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome HP:0001328 ORPHA:85294 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0005285 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0008905 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0011304 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0000303 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0000358 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0000368 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0000470 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0001156 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0001388 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0001552 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0001597 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0002938 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0003027 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0004482 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0011800 ORPHA:171866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0001609 ORPHA:171866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type HP:0002795 ORPHA:171866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3176 Spina bifida-hypospadias syndrome HP:0000047 ORPHA:3176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3176 Spina bifida-hypospadias syndrome HP:0002414 ORPHA:3176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3176 Spina bifida-hypospadias syndrome HP:0010301 ORPHA:3176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0000505 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0001131 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0001251 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0002073 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0002342 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0002493 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0002503 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0007006 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3177 Spinocerebellar degeneration-corneal dystrophy syndrome HP:0007957 ORPHA:3177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0000822 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0001250 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0001289 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0001332 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0001337 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0001649 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0001919 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0002018 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0002039 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0002094 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0002098 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0002500 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0002572 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0002574 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0002615 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0002878 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0002900 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0003324 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0006515 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0007185 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330021 Mercury poisoning HP:0100785 ORPHA:330021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000154 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000248 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000303 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000321 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0001250 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0001510 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0002300 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0002719 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0010814 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0010864 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0012471 ORPHA:85290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000023 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000034 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000252 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0006956 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0012448 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0000845 ORPHA:97261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0000280 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0001438 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0003118 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0001824 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002014 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002017 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002019 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002039 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002044 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002240 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002574 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002894 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0004396 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0007410 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0030144 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0100526 ORPHA:97261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0000820 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0000837 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0000870 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0001031 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0001046 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0001081 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0001406 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0001541 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002239 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002893 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002897 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0003072 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0005214 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0006723 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0008200 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0008256 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0012334 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0030145 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0100833 ORPHA:97261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0002666 ORPHA:97261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97261 GRFoma HP:0100521 ORPHA:97261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0000252 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0001249 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0001250 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0001263 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0001272 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0001290 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0001508 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0011968 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0012345 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0000028 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0000046 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0000054 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0000078 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0000648 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0001511 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0001873 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370924 STT3B-CDG HP:0002098 ORPHA:370924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0000271 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0000656 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0000958 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0000969 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0000982 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0000989 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0001019 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0001337 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0001596 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0001744 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0001999 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0002103 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0002240 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0002665 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0002716 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0002721 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0003202 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0004332 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0007400 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0008069 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0008404 ORPHA:3162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0009830 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0010701 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0012192 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0100725 ORPHA:3162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3162 Sézary syndrome HP:0100758 ORPHA:3162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0003256 ORPHA:370927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0000252 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001249 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001263 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001290 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001999 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0000154 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0000400 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0000486 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0000490 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0000687 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001508 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0002013 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0002020 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0011024 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0011339 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0011968 ORPHA:370927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001250 ORPHA:370927 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0000085 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0000924 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001331 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001373 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001626 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001928 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0002079 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0002518 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0002650 ORPHA:370927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370927 SSR4-CDG HP:0001643 ORPHA:370927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000023 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000407 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000490 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0003510 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0005692 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0007676 ORPHA:3163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000164 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000271 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000485 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000501 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000615 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000682 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000691 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000819 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000855 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0008070 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0001596 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0001824 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0002167 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0004396 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0007392 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0009125 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0011800 ORPHA:3163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000272 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000277 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000316 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000325 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000336 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000431 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000506 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000593 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0000627 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0001156 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0004279 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0007957 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0010668 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3163 SHORT syndrome HP:0011220 ORPHA:3163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0000219 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0000465 ORPHA:3164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0000494 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0000499 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0000506 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0001252 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0001263 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0001539 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0001620 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002000 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002020 ORPHA:3164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002023 ORPHA:3164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002028 ORPHA:3164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002643 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002650 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0002714 ORPHA:3164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0005338 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0005956 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0008749 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0008872 ORPHA:3164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type HP:0009555 ORPHA:3164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0000016 ORPHA:178475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0000508 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0000651 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0001260 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0001324 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0001695 ORPHA:178475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0001945 ORPHA:178475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0002015 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0002019 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0002094 ORPHA:178475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0002747 ORPHA:178475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0006597 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0006824 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0011499 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178475 Wound botulism HP:0100021 ORPHA:178475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0000049 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0000322 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0000565 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0000729 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0000733 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0001249 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0001250 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0001319 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0001344 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0002020 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0002079 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0002119 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0002120 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0002273 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0003011 ORPHA:85277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0003196 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0010804 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85277 X-linked intellectual disability, Cantagrel type HP:0011344 ORPHA:85277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0000217 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0000298 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0000389 ORPHA:178478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0000508 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0000600 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0000651 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0000822 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0001097 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0001252 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0001260 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0001284 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0001620 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0001695 ORPHA:178478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002015 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002019 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002027 ORPHA:178478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002039 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002094 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002307 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002360 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002607 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002615 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002747 ORPHA:178478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0002902 ORPHA:178478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0006824 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0011499 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0100021 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178478 Infant botulism HP:0100022 ORPHA:178478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000252 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000275 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000276 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000303 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000366 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000400 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000486 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000490 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000574 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000602 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000639 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000717 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000733 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000748 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000765 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0000767 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0001181 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0001272 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0001332 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0001344 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002015 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002020 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002066 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002078 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002119 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002120 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002187 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002197 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002300 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002376 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002529 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0002804 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0003199 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0004326 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0005692 ORPHA:85278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0007360 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0007370 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0008872 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0011344 ORPHA:85278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0100024 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85278 Christianson syndrome HP:0100613 ORPHA:85278 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000028 ORPHA:85279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000218 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000252 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000256 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000327 ORPHA:85279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000411 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000426 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000486 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000490 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000717 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000718 ORPHA:85279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000750 ORPHA:85279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0001182 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0001250 ORPHA:85279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0001257 ORPHA:85279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0001347 ORPHA:85279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0001762 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0002232 ORPHA:85279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0004279 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0004322 ORPHA:85279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0007565 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0008734 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0010864 ORPHA:85279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0030084 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0100490 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000028 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000076 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000089 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000110 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000175 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000238 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000252 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000365 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000369 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000411 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000444 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000568 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000609 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0000612 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0001162 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0001263 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0001357 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0001510 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0001511 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0001596 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0002251 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0002650 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0002937 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0003811 ORPHA:85284 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0005343 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0008064 ORPHA:85284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0008734 ORPHA:85284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0010864 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85284 BRESEK syndrome HP:0012443 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000272 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000286 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000316 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000470 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000520 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000598 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000729 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000926 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000938 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001156 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001249 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001270 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001363 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001498 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001845 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002007 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002355 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002651 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002750 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002751 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002815 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003196 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003272 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004322 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004689 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0005280 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0010579 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0010804 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0012471 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0100864 ORPHA:457395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000164 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000252 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000369 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000766 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001256 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001290 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001763 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001838 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002812 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002857 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002944 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002967 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003026 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003100 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003275 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003307 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0003521 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004209 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004279 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004568 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0005096 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0005639 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0006461 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0006863 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0010049 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0010585 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0012428 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0030292 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0030293 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0040261 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000486 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001377 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001643 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001653 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001655 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001761 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0001863 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002079 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002342 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0002677 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0004592 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0008812 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0030427 ORPHA:457395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000028 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000047 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000054 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000089 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000104 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000233 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000238 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000239 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000248 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000262 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000272 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000316 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000337 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000343 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000347 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000348 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000369 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000463 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000581 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000768 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001250 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001276 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001285 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001363 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001513 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001537 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001601 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001643 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0001770 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0002000 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0002059 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0002308 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0002342 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0002974 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0003196 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0004279 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0005280 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0006487 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0006610 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0007375 ORPHA:171839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0008551 ORPHA:171839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000365 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000544 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001249 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001257 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001263 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001266 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001344 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001531 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0002033 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0002421 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0004322 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0005484 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0008947 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0100660 ORPHA:85285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000076 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000126 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000218 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000446 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0000490 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0001347 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0002120 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0002987 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0003273 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0006380 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0006466 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85285 X-linked intellectual disability, Schimke type HP:0011471 ORPHA:85285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000053 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000232 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000280 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000336 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000400 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000414 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000581 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0000750 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0001250 ORPHA:85286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0001513 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0002342 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85286 X-linked intellectual disability, Shashi type HP:0100540 ORPHA:85286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000028 ORPHA:85287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000202 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000204 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000276 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000455 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0000664 ORPHA:85287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0001176 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0001177 ORPHA:85287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0001256 ORPHA:85287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0002162 ORPHA:85287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0002650 ORPHA:85287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85287 X-linked intellectual disability, Siderius type HP:0008734 ORPHA:85287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000218 ORPHA:85280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000252 ORPHA:85280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000272 ORPHA:85280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000322 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000490 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000494 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000767 ORPHA:85280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000995 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0001182 ORPHA:85280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0001250 ORPHA:85280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0001956 ORPHA:85280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0001999 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0002342 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0002714 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0002967 ORPHA:85280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0004322 ORPHA:85280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0007598 ORPHA:85280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0000028 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0000054 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0000252 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0000293 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0000311 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0000340 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0000639 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0000713 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0000819 ORPHA:85282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0001182 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0001250 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0001252 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0001276 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0001347 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0001510 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0001513 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0001762 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0002353 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0002714 ORPHA:85282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0003241 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0008736 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0009748 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0010864 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0011344 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85282 MEHMO syndrome HP:0012471 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0000135 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0000324 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0000482 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0000577 ORPHA:85283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0001838 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0003202 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0005692 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0007477 ORPHA:85283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85283 X-linked intellectual disability, Miles-Carpenter type HP:0010864 ORPHA:85283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0000969 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0001063 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0001369 ORPHA:3165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0001482 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0001824 ORPHA:3165 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0001879 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0001880 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0002829 ORPHA:3165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0003326 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0003401 ORPHA:3165 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0012378 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0012733 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0100537 ORPHA:3165 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0100614 ORPHA:3165 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0100658 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3165 Eosinophilic fasciitis HP:0100748 ORPHA:3165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0040320 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0001324 ORPHA:228302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003455 ORPHA:228302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0045045 ORPHA:228302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0100295 ORPHA:228302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0000083 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0001970 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003201 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003236 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003394 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003449 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003710 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003774 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0008682 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0009058 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0011964 ORPHA:228302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0002913 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003326 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003546 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0003738 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form HP:0012380 ORPHA:228302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0000219 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0000280 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0000286 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0000316 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0000319 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0000369 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0000431 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0000629 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0000943 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001081 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001250 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001256 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001290 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001382 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001433 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001609 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001847 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001939 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001999 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0002240 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0002354 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0002474 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0002487 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0002574 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0002705 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0002781 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0002910 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0003645 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0004691 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0007018 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0008151 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0008443 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0010535 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0011220 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0012103 ORPHA:3166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3166 Sialuria HP:0001263 ORPHA:3166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0008419 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0008818 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0009381 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0009832 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0009834 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0010052 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0011304 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0001156 ORPHA:3168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0001761 ORPHA:3168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0001840 ORPHA:3168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0002650 ORPHA:3168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0003180 ORPHA:3168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0005819 ORPHA:3168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0010239 ORPHA:3168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0012385 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0000286 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0000300 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0000926 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0001533 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0001597 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0001782 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0001783 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0003418 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0003468 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0004679 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3168 Sillence syndrome HP:0006170 ORPHA:3168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002910 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003201 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0006929 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0011675 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0012380 ORPHA:228305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001324 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002315 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002574 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002913 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003198 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003236 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003326 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003449 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003546 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003710 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0003738 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0008315 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0011936 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0011964 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0040320 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0045045 ORPHA:228305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001250 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001305 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001397 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001399 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001638 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001714 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0001985 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002240 ORPHA:228305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3169 Sirenomelia HP:0000062 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3169 Sirenomelia HP:0000079 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3169 Sirenomelia HP:0002023 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3169 Sirenomelia HP:0008678 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3169 Sirenomelia HP:0010305 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3169 Sirenomelia HP:0010497 ORPHA:3169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3169 Sirenomelia HP:0001626 ORPHA:3169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3169 Sirenomelia HP:0002414 ORPHA:3169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3169 Sirenomelia HP:0002575 ORPHA:3169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3169 Sirenomelia HP:0006501 ORPHA:3169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0000365 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0001394 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0001396 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0001397 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0001511 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0001994 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0003128 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0003281 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0012464 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0012465 ORPHA:53693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53693 GRACILE syndrome HP:0100613 ORPHA:53693 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0000252 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0000343 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0000664 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0000885 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0000894 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0001027 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0001061 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0001373 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0001388 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0001510 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0001763 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0002240 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0002342 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0002673 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0003015 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0003026 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0004322 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0005616 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0011304 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0012471 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0030084 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0100864 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0500011 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0000175 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0000520 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0000545 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0001007 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0001956 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370930 XYLT1-CDG HP:0004482 ORPHA:370930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002913 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0008315 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0011936 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0012380 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0040320 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0045045 ORPHA:228308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0000083 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0000113 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0000800 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001250 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001274 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001399 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001638 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001985 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002240 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002269 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002514 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002643 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0003077 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0003215 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0003236 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0011675 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0011968 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0012443 ORPHA:228308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0000238 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001259 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001290 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001302 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001320 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001397 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001637 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001640 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001942 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001970 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0001987 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002119 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002126 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002134 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002705 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0006559 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0007229 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0008682 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form HP:0012722 ORPHA:228308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53697 Gnathodiaphyseal dysplasia HP:0000935 ORPHA:53697 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53697 Gnathodiaphyseal dysplasia HP:0000938 ORPHA:53697 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53697 Gnathodiaphyseal dysplasia HP:0002650 ORPHA:53697 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53697 Gnathodiaphyseal dysplasia HP:0002757 ORPHA:53697 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53697 Gnathodiaphyseal dysplasia HP:0006487 ORPHA:53697 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53697 Gnathodiaphyseal dysplasia HP:0007626 ORPHA:53697 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53697 Gnathodiaphyseal dysplasia HP:0012802 ORPHA:53697 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000375 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000399 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000407 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000505 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000648 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000649 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000708 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0001268 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0001332 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0001751 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002283 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0003487 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0004463 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0006801 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0007256 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0007325 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0007377 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0008596 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0011448 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0012048 ORPHA:52368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000551 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000572 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000603 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000613 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000726 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000751 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0000763 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0001337 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002015 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002172 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002186 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002340 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002362 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0002540 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0004373 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0004432 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0009830 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0011951 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0011999 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0100704 ORPHA:52368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52368 Mohr-Tranebjaerg syndrome HP:0007018 ORPHA:52368 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0001347 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002061 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002064 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002314 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0003487 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0007020 ORPHA:444099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0000012 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0000020 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002166 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002355 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0003457 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0007199 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0008944 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0009053 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0012898 ORPHA:444099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0001761 ORPHA:444099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0000726 ORPHA:444099 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0001250 ORPHA:444099 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:444099 Autosomal dominant spastic paraplegia type 73 HP:0002921 ORPHA:444099 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0000961 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001511 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001518 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001622 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001640 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001667 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0002240 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0002789 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0002878 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0004887 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0005180 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0010772 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0012418 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0031441 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0031443 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0031664 ORPHA:555874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001655 ORPHA:555874 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001698 ORPHA:555874 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0001704 ORPHA:555874 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555874 Congenital tricuspid valve dysplasia HP:0030718 ORPHA:555874 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0000964 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0008064 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0008066 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0008499 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0010783 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0012393 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0040189 ORPHA:263534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0000953 ORPHA:263534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0007605 ORPHA:263534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0012733 ORPHA:263534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0200034 ORPHA:263534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263534 Acral peeling skin syndrome HP:0200041 ORPHA:263534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0000648 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0000651 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0000763 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0001251 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0001288 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0001881 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0001928 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0002321 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0004374 ORPHA:3151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0007256 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0008064 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0100654 ORPHA:3151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0000098 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0000366 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0000407 ORPHA:3152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0000508 ORPHA:3152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0000648 ORPHA:3152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0001233 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0003103 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0004493 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0005019 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0006101 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0009838 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0010628 ORPHA:3152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0011001 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3152 Sclerosteosis HP:0100798 ORPHA:3152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001653 ORPHA:555877 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0005180 ORPHA:555877 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0010444 ORPHA:555877 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001634 ORPHA:555877 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001659 ORPHA:555877 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000189 ORPHA:555877 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001382 ORPHA:555877 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001647 ORPHA:555877 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001763 ORPHA:555877 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0031624 ORPHA:555877 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000179 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000316 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000343 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000347 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000767 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0000974 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001290 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001488 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0001643 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0002079 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0002094 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0002650 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0030718 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia HP:0032388 ORPHA:555877 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0000980 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0001324 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0001744 ORPHA:228312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0001878 ORPHA:228312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0001881 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0002094 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0002960 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228312 Autoimmune hemolytic anemia, cold type HP:0012378 ORPHA:228312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171851 MEDNIK syndrome HP:0000962 ORPHA:171851 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171851 MEDNIK syndrome HP:0001249 ORPHA:171851 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171851 MEDNIK syndrome HP:0002242 ORPHA:171851 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171851 MEDNIK syndrome HP:0008064 ORPHA:171851 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171851 MEDNIK syndrome HP:0009830 ORPHA:171851 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171851 MEDNIK syndrome HP:0001406 ORPHA:171851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171851 MEDNIK syndrome HP:0010837 ORPHA:171851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171851 MEDNIK syndrome HP:0011967 ORPHA:171851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0000148 ORPHA:65681 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0000130 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0000786 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0002027 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0030011 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0031500 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0031501 ORPHA:65681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0003762 ORPHA:65681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0030160 ORPHA:65681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0100674 ORPHA:65681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0000145 ORPHA:65681 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65681 Vaginal atresia HP:0000813 ORPHA:65681 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0000365 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0000952 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0000989 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0001081 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0001394 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0001402 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0001733 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0001824 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002017 ORPHA:65682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002027 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002028 ORPHA:65682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002039 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002611 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0002910 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0011985 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65682 Benign recurrent intrahepatic cholestasis HP:0012378 ORPHA:65682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0000707 ORPHA:65683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0001250 ORPHA:65683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0002361 ORPHA:65683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0012757 ORPHA:65683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0410263 ORPHA:65683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0000708 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0001256 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0001269 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0002384 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0002536 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0006891 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0007359 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0030890 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0031951 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0100543 ORPHA:65683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0002197 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0007334 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0010864 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0011097 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0012469 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65683 Isolated focal cortical dysplasia HP:0025170 ORPHA:65683 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65684 Monomelic amyotrophy HP:0001324 ORPHA:65684 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65684 Monomelic amyotrophy HP:0001337 ORPHA:65684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65684 Monomelic amyotrophy HP:0002380 ORPHA:65684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65684 Monomelic amyotrophy HP:0002398 ORPHA:65684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65684 Monomelic amyotrophy HP:0002715 ORPHA:65684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65684 Monomelic amyotrophy HP:0002817 ORPHA:65684 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65684 Monomelic amyotrophy HP:0003134 ORPHA:65684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65684 Monomelic amyotrophy HP:0003457 ORPHA:65684 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65684 Monomelic amyotrophy HP:0007149 ORPHA:65684 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65684 Monomelic amyotrophy HP:0100022 ORPHA:65684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178487 Adult intestinal botulism HP:0000508 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178487 Adult intestinal botulism HP:0000651 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178487 Adult intestinal botulism HP:0001324 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178487 Adult intestinal botulism HP:0002014 ORPHA:178487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178487 Adult intestinal botulism HP:0002094 ORPHA:178487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178487 Adult intestinal botulism HP:0002747 ORPHA:178487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178487 Adult intestinal botulism HP:0006597 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178487 Adult intestinal botulism HP:0006824 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178487 Adult intestinal botulism HP:0100021 ORPHA:178487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000175 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000252 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000340 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000365 ORPHA:85273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000411 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000426 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000767 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0001249 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0002650 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0004322 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0008734 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0100335 ORPHA:85273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0000028 ORPHA:85274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0000054 ORPHA:85274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0000135 ORPHA:85274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0000572 ORPHA:85274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0000692 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0001182 ORPHA:85274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0001249 ORPHA:85274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0001324 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0001513 ORPHA:85274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0002231 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0002342 ORPHA:85274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0002546 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0004322 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0006482 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85274 Syndromic X-linked intellectual disability 7 HP:0008736 ORPHA:85274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome HP:0000528 ORPHA:85275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome HP:0000568 ORPHA:85275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome HP:0001256 ORPHA:85275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome HP:0009755 ORPHA:85275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000023 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000028 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000154 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000175 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000248 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000256 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000286 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000303 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000322 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000337 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000347 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000400 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000486 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000494 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000501 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000518 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0000996 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001250 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001263 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001377 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001643 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001671 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001773 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0001992 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0002120 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0002342 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0002714 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0003355 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0004322 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0005280 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0005306 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0007413 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0009811 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0010864 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0011800 ORPHA:85276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0012023 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0200055 ORPHA:85276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85276 X-linked intellectual disability, Armfield type HP:0400004 ORPHA:85276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0000217 ORPHA:178481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0000508 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0000651 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0001252 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0001260 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0001522 ORPHA:178481 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0002014 ORPHA:178481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0002015 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0002017 ORPHA:178481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0002094 ORPHA:178481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0002747 ORPHA:178481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0006824 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178481 Intestinal botulism HP:0011499 ORPHA:178481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000572 ORPHA:171844 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000618 ORPHA:171844 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0001166 ORPHA:171844 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0002650 ORPHA:171844 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000486 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000518 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000541 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0000565 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0001132 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0007703 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171844 Blindness-scoliosis-arachnodactyly syndrome HP:0012376 ORPHA:171844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0000823 ORPHA:314811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0002750 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0001510 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0004322 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0001943 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0001946 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0002013 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0002027 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0004323 ORPHA:314811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0004325 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314811 Short stature due to GHSR deficiency HP:0030353 ORPHA:314811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0000090 ORPHA:3156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0000505 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0000518 ORPHA:3156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0000529 ORPHA:3156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0000556 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0000822 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0001251 ORPHA:3156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0001263 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0002612 ORPHA:3156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0003774 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0004322 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0004348 ORPHA:3156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0007703 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0008209 ORPHA:3156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0010579 ORPHA:3156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3156 Senior-Loken syndrome HP:0012622 ORPHA:3156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000028 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000175 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000407 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000458 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000486 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000505 ORPHA:3157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000609 ORPHA:3157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000639 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000717 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000864 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000873 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000958 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0000966 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0001249 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0001250 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0001263 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0001274 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0001331 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0001513 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0001959 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0002019 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0002032 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0002360 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0030680 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0002575 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0004322 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0004374 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0007360 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0008736 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0009800 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0010627 ORPHA:3157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0012378 ORPHA:3157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3157 Septo-optic dysplasia spectrum HP:0100842 ORPHA:3157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0000729 ORPHA:370943 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0001256 ORPHA:370943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0004976 ORPHA:370943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0001385 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0001765 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0002121 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0002342 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0002650 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0002827 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0010864 ORPHA:370943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0000975 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0000989 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0001123 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0001250 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0001260 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0001279 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0001744 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0001824 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0001892 ORPHA:71493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0001894 ORPHA:71493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0002092 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0002315 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0002321 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0002326 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0002637 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0002863 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0003401 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0004420 ORPHA:71493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0004808 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0004936 ORPHA:71493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0005268 ORPHA:71493 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0004950 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0005506 ORPHA:71493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71493 Familial thrombocytosis HP:0100749 ORPHA:71493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001880 ORPHA:3260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000980 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001903 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001945 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001974 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002098 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002863 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0003270 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0031323 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0100724 ORPHA:3260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000622 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000708 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000726 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000964 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000965 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0000989 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001019 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001025 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001217 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001250 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001289 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001298 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001324 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001347 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001369 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001386 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001433 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001508 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001635 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001644 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001727 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001733 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001744 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001785 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001873 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0001894 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002013 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002015 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002024 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002027 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002028 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002094 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002099 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002113 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002170 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002202 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002204 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002206 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002326 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002354 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002583 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002829 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0002910 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0003202 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0003326 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0003401 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0003474 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0004302 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0005115 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0005547 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0006253 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0006580 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0008872 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0008940 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0009830 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0011123 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0011897 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0011974 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0012735 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0025289 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0030151 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0030880 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0100665 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0100749 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0200029 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0200034 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0200036 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3260 Idiopathic hypereosinophilic syndrome HP:0200123 ORPHA:3260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001744 ORPHA:3261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002716 ORPHA:3261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002730 ORPHA:3261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002960 ORPHA:3261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0000978 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001890 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001892 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001904 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001971 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001973 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002240 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002851 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003237 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0005404 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0010702 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0030782 ORPHA:3261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0000099 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001025 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001880 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001888 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001923 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002633 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002848 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002850 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002923 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003212 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003261 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003453 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003493 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0003613 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0004315 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0004844 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0005407 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012115 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012189 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012190 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012191 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012539 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0030080 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0031392 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0031393 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0040126 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0100646 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0100827 ORPHA:3261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0000083 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0000554 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0000854 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001250 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001369 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001402 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0001789 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002113 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002206 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002315 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002583 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002671 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002725 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0002890 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0005263 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0005528 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0008069 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0008209 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0010619 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0011107 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0012490 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0031020 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0100648 ORPHA:3261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000160 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000238 ORPHA:83473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000256 ORPHA:83473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000316 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000348 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000506 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001162 ORPHA:83473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001250 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001355 ORPHA:83473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001629 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001653 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0001671 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0002126 ORPHA:83473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0005105 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0005280 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0100542 ORPHA:83473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy HP:0000365 ORPHA:217622 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy HP:0001635 ORPHA:217622 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy HP:0001644 ORPHA:217622 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy HP:0030872 ORPHA:217622 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy HP:0040268 ORPHA:217622 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0000104 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0000175 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0000252 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0000776 ORPHA:63862 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0001518 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0001539 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0001622 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0002023 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0002084 ORPHA:63862 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0002323 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0002414 ORPHA:63862 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0030680 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0002575 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0002983 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63862 Schisis association HP:0100333 ORPHA:63862 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0000988 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0001063 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0001873 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0001977 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0002958 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0003645 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0004855 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0005521 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0005543 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0008066 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0008151 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0011227 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0011900 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0012733 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0025022 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0025475 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0031273 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0031365 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0100758 ORPHA:49566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0001399 ORPHA:49566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0002170 ORPHA:49566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0002664 ORPHA:49566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0011029 ORPHA:49566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0100806 ORPHA:49566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49566 Acquired purpura fulminans HP:0025452 ORPHA:49566 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:57196 Medial condensing osteitis of the clavicle HP:0000889 ORPHA:57196 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57196 Medial condensing osteitis of the clavicle HP:0010657 ORPHA:57196 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57196 Medial condensing osteitis of the clavicle HP:0030834 ORPHA:57196 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57196 Medial condensing osteitis of the clavicle HP:0006467 ORPHA:57196 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57196 Medial condensing osteitis of the clavicle HP:0011227 ORPHA:57196 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0003003 ORPHA:99818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0030692 ORPHA:99818 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0005227 ORPHA:99818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002014 ORPHA:99818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002019 ORPHA:99818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0000505 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0000365 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002176 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0000957 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0012174 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0200040 ORPHA:99818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002885 ORPHA:99818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002893 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002888 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0009592 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0009733 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0007129 ORPHA:99818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002315 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002013 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002516 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002890 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0031459 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002027 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002573 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002249 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0011512 ORPHA:99818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002884 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0100245 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0200008 ORPHA:99818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0001137 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0001251 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002018 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0030553 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0001085 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0100006 ORPHA:99818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002895 ORPHA:99818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002671 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0030434 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0001909 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0002665 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0001103 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99818 Turcot syndrome with polyposis HP:0100014 ORPHA:99818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0000836 ORPHA:99819 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0011790 ORPHA:99819 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0000853 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0001824 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0002014 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0002378 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0008249 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0011784 ORPHA:99819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0000713 ORPHA:99819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0000752 ORPHA:99819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0001270 ORPHA:99819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0002360 ORPHA:99819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0000520 ORPHA:99819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99819 Familial gestational hyperthyroidism HP:0030057 ORPHA:99819 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000028 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000233 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000248 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000252 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000286 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000294 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000320 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000347 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000431 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000506 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000582 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000821 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000924 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000992 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0001249 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0001263 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0001510 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0001876 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0001974 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0002024 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0002240 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0002488 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0002665 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0002716 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0002721 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0003220 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0000444 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0004209 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0004422 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0004430 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0005561 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0005978 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0008736 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0010783 ORPHA:99812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99812 LIG4 syndrome HP:0100585 ORPHA:99812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0000252 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0000567 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0000612 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0001376 ORPHA:3265 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0002435 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0003019 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0003042 ORPHA:3265 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0003070 ORPHA:3265 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0008056 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0008368 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3265 Humero-radial synostosis HP:0009601 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0000640 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0001251 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0001284 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0001761 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0002166 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0002283 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0002464 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0002503 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0003073 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0003124 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0003376 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0003693 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0006855 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0006858 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0007021 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0007141 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0009053 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0009830 ORPHA:94124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0001250 ORPHA:94124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94124 Spinocerebellar ataxia with axonal neuropathy type 1 HP:0001249 ORPHA:94124 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001945 ORPHA:95455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0008066 ORPHA:95455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0011123 ORPHA:95455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012378 ORPHA:95455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0030953 ORPHA:95455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000509 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000600 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000739 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000953 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000987 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000988 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001097 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001903 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002039 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002098 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002315 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002910 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0003326 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012384 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012735 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0025426 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0025439 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0031464 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0100792 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0200042 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0200097 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0200136 ORPHA:95455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000036 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000217 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000491 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000572 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000613 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000716 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000790 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001010 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001128 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001600 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001875 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001919 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002014 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0002090 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0003270 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0004378 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0004386 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0004887 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0008404 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0008682 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0010285 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0011354 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012122 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012375 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0012594 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0025416 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0030943 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0031088 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0031731 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0100518 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0200020 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0430007 ORPHA:95455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0000618 ORPHA:95455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001798 ORPHA:95455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0006528 ORPHA:95455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0031368 ORPHA:95455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0100806 ORPHA:95455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3266 Humero-radio-ulnar synostosis HP:0000069 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3266 Humero-radio-ulnar synostosis HP:0001048 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3266 Humero-radio-ulnar synostosis HP:0005916 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3266 Humero-radio-ulnar synostosis HP:0001172 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3266 Humero-radio-ulnar synostosis HP:0002974 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3266 Humero-radio-ulnar synostosis HP:0003070 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3266 Humero-radio-ulnar synostosis HP:0009601 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3266 Humero-radio-ulnar synostosis HP:0010935 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3266 Humero-radio-ulnar synostosis HP:0100560 ORPHA:3266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36258 Buerger disease HP:0000763 ORPHA:36258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36258 Buerger disease HP:0000975 ORPHA:36258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36258 Buerger disease HP:0001063 ORPHA:36258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36258 Buerger disease HP:0002633 ORPHA:36258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36258 Buerger disease HP:0002829 ORPHA:36258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36258 Buerger disease HP:0003401 ORPHA:36258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36258 Buerger disease HP:0004420 ORPHA:36258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36258 Buerger disease HP:0100758 ORPHA:36258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36258 Buerger disease HP:0100785 ORPHA:36258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36258 Buerger disease HP:0200042 ORPHA:36258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0002470 ORPHA:94122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0000639 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0001260 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0001263 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0001290 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0001321 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0002066 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0002078 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0002080 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0002136 ORPHA:94122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94122 Cerebellar ataxia, Cayman type HP:0000479 ORPHA:94122 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000164 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000252 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000286 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000288 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000574 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000664 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000768 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000772 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0001249 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0001263 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0001622 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0002650 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0002750 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0002974 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0004209 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0004322 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0006101 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0007477 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0009811 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95459 Congenital tricuspid stenosis HP:0010446 ORPHA:95459 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:95459 Congenital tricuspid stenosis HP:0030148 ORPHA:95459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95459 Congenital tricuspid stenosis HP:0005180 ORPHA:95459 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95459 Congenital tricuspid stenosis HP:0001635 ORPHA:95459 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95459 Congenital tricuspid stenosis HP:0002092 ORPHA:95459 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95459 Congenital tricuspid stenosis HP:0002615 ORPHA:95459 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95459 Congenital tricuspid stenosis HP:0001370 ORPHA:95459 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:95459 Congenital tricuspid stenosis HP:0006689 ORPHA:95459 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:95459 Congenital tricuspid stenosis HP:0100570 ORPHA:95459 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0002974 ORPHA:3269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0002996 ORPHA:3269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0006394 ORPHA:3269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0040071 ORPHA:3269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0002818 ORPHA:3269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0001457 ORPHA:3269 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0003083 ORPHA:3269 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0030834 ORPHA:3269 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0030836 ORPHA:3269 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0001159 ORPHA:3269 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0001374 ORPHA:3269 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0001762 ORPHA:3269 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3269 Congenital radioulnar synostosis HP:0010442 ORPHA:3269 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0000602 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0000708 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0000872 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001250 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001251 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001284 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001288 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001290 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001310 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0002015 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0002315 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0002403 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0002406 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0002495 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0003390 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0003542 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0009830 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0012079 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0012251 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0100022 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0100543 ORPHA:94125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94125 Recessive mitochondrial ataxia syndrome HP:0001260 ORPHA:94125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0002027 ORPHA:51890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0003474 ORPHA:51890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0010830 ORPHA:51890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0000975 ORPHA:51890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0002321 ORPHA:51890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0001974 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0002018 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0002039 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0003270 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0003418 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0003565 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0012533 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0100963 ORPHA:51890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0000010 ORPHA:51890 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0000023 ORPHA:51890 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0004325 ORPHA:51890 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51890 Anterior cutaneous nerve entrapment syndrome HP:0004798 ORPHA:51890 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0000174 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001290 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001371 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002808 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003236 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003306 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003324 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003458 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003557 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0004303 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0005072 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0006149 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0100297 ORPHA:75840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0000347 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0000470 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0000473 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0000565 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001181 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001238 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001324 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0001558 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002359 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002650 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002827 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002878 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0002987 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0003700 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0006380 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0008081 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0009113 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75840 Congenital muscular dystrophy, Ullrich type HP:0010511 ORPHA:75840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0000695 ORPHA:99811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0001643 ORPHA:99811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0002024 ORPHA:99811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0002719 ORPHA:99811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0004313 ORPHA:99811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0000776 ORPHA:99811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99811 Neuronal intestinal pseudoobstruction HP:0001671 ORPHA:99811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0001249 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0001260 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0001336 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0002376 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0007221 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0007272 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0011166 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0011188 ORPHA:263516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0000252 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0000504 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0000648 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0000726 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0001272 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0001327 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0002059 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0002069 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0002073 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0002373 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0007370 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0011185 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0012462 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0045084 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000252 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000750 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0001263 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0001511 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0001999 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000160 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000276 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000286 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000322 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000347 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000369 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000448 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000506 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000545 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0001270 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0001344 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0001510 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0002342 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0012471 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0100807 ORPHA:447980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000175 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000340 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000358 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000430 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000494 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000540 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000582 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000646 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000666 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000737 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000752 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000826 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000939 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0001385 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0001629 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0001761 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0002019 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0002020 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0002059 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0002092 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0002373 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0002572 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0002751 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0002827 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0003186 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0008551 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0010864 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0012741 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0030043 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0030084 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447980 19p13.3 microduplication syndrome HP:0100716 ORPHA:447980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238578 Familial clubfoot due to 17q23.1q23.2 microduplication HP:0001385 ORPHA:238578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238578 Familial clubfoot due to 17q23.1q23.2 microduplication HP:0001762 ORPHA:238578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238578 Familial clubfoot due to 17q23.1q23.2 microduplication HP:0001800 ORPHA:238578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238578 Familial clubfoot due to 17q23.1q23.2 microduplication HP:0004322 ORPHA:238578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0000407 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0000486 ORPHA:3250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0001156 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0005916 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0003019 ORPHA:3250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0003042 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0003070 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0004209 ORPHA:3250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0005048 ORPHA:3250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0005880 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0006101 ORPHA:3250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0008368 ORPHA:3250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0040019 ORPHA:3250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0100264 ORPHA:3250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3250 Proximal symphalangism HP:0100490 ORPHA:3250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83465 Narcolepsy type 2 HP:0000708 ORPHA:83465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83465 Narcolepsy type 2 HP:0000738 ORPHA:83465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83465 Narcolepsy type 2 HP:0001262 ORPHA:83465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83465 Narcolepsy type 2 HP:0002360 ORPHA:83465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83465 Narcolepsy type 2 HP:0100785 ORPHA:83465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83463 Microtia HP:0008551 ORPHA:83463 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:83463 Microtia HP:0000377 ORPHA:83463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83463 Microtia HP:0000413 ORPHA:83463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83463 Microtia HP:0000750 ORPHA:83463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83463 Microtia HP:0008589 ORPHA:83463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83463 Microtia HP:0009892 ORPHA:83463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83463 Microtia HP:0001360 ORPHA:83463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83463 Microtia HP:0007018 ORPHA:83463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0001541 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0001824 ORPHA:83469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0001903 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0002017 ORPHA:83469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0002027 ORPHA:83469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0002240 ORPHA:83469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0002585 ORPHA:83469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0002595 ORPHA:83469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0002716 ORPHA:83469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0002894 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0003270 ORPHA:83469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0004326 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0010788 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0100006 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0100242 ORPHA:83469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0100526 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0100615 ORPHA:83469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83469 Desmoplastic small round cell tumor HP:0100721 ORPHA:83469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0012064 ORPHA:83468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0002653 ORPHA:83468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0002756 ORPHA:83468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0003926 ORPHA:83468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0006431 ORPHA:83468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0100253 ORPHA:83468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0002992 ORPHA:83468 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0012428 ORPHA:83468 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0000707 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0002143 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0002696 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0002867 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0003172 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0003312 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0003418 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0003979 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83468 Solitary bone cyst HP:0100748 ORPHA:83468 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0000083 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0000100 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0001250 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0001257 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0001260 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0012444 ORPHA:83472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0000252 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0000648 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0000951 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0001249 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0001251 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0001252 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0001270 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0007153 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83472 CAMOS syndrome HP:0007360 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0005359 ORPHA:83471 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0002719 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0005352 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0005374 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0005403 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0031381 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0031397 ORPHA:83471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0001508 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0002090 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0002718 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0002960 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0004798 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0031690 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0031691 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0032169 ORPHA:83471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0000010 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0000246 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0000389 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0000821 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0000976 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0001287 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0002014 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0002024 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0002716 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0002726 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0003472 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0004844 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0005366 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0005387 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0005401 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0009098 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0020101 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0031430 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0100646 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0100806 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83471 Thymic aplasia HP:0200122 ORPHA:83471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0000407 ORPHA:137867 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0001283 ORPHA:137867 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0001621 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0002460 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0003487 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0003693 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0006801 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0007289 ORPHA:137867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0000360 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0000505 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0000648 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0001315 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0001317 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0002015 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0100753 ORPHA:137867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0007663 ORPHA:137867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137867 Madras motor neuron disease HP:0010628 ORPHA:137867 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0000054 ORPHA:75858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0000505 ORPHA:75858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0000750 ORPHA:75858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0001956 ORPHA:75858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0000518 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0000556 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0000718 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0000752 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0001105 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0001256 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0002342 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0002465 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0007675 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0010864 ORPHA:75858 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0000077 ORPHA:75858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0000613 ORPHA:75858 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0000639 ORPHA:75858 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:75858 MORM syndrome HP:0001252 ORPHA:75858 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000046 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000069 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000135 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000164 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000204 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000347 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000400 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000411 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000431 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000494 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000664 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000668 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000670 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000674 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000682 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000966 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000968 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0000972 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0001249 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0001250 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0001596 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0001770 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0001810 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0002167 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0002205 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0002353 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0002553 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0002744 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0003307 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0003777 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0005338 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0006101 ORPHA:3253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0006482 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0006610 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0007477 ORPHA:3253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0007598 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0008070 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0008391 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0008404 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0010669 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0011800 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome HP:0100840 ORPHA:3253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000047 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000256 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000268 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000289 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000294 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000316 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000347 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000368 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000470 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000486 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000540 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000639 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000750 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001263 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000771 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0000962 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001357 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001250 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001256 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001310 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001321 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001388 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001508 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001513 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001741 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001822 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001884 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0001999 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002066 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002079 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002126 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002269 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002282 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002500 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002521 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002538 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002553 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002650 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0002705 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0005487 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0006610 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0006712 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0007165 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0008947 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0011220 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0012471 ORPHA:75857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0030084 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0012745 ORPHA:75857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75857 6q terminal deletion syndrome HP:0030048 ORPHA:75857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0001250 ORPHA:99802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0025373 ORPHA:99802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0030890 ORPHA:99802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0000267 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0000929 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0002119 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0002126 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0002392 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0007206 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0010851 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0011153 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0011193 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0011195 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0011215 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0001263 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0032046 ORPHA:99802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0000256 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0000648 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0001269 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0001302 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0001336 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0002133 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0002171 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0002282 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0004302 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0006824 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0010819 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0010864 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0011097 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0011167 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0012246 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0012377 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99802 Hemimegalencephaly HP:0012757 ORPHA:99802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0000407 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0000486 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0001249 ORPHA:99803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0001250 ORPHA:99803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0001252 ORPHA:99803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0001508 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0001518 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0001522 ORPHA:99803 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0001558 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0001561 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0001562 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0002020 ORPHA:99803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0002251 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0012332 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0012332 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0003005 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0003006 ORPHA:99803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0005957 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0007110 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99803 Haddad syndrome HP:0010536 ORPHA:99803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3255 Filippi syndrome HP:0000028 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3255 Filippi syndrome HP:0000252 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3255 Filippi syndrome HP:0000426 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3255 Filippi syndrome HP:0000430 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3255 Filippi syndrome HP:0000431 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3255 Filippi syndrome HP:0000445 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3255 Filippi syndrome 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HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3258 Cenani-Lenz syndrome HP:0003312 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3258 Cenani-Lenz syndrome HP:0004736 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3258 Cenani-Lenz syndrome HP:0007477 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3258 Cenani-Lenz syndrome HP:0008678 ORPHA:3258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263508 COG1-CDG HP:0000201 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263508 COG1-CDG HP:0000219 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263508 COG1-CDG HP:0000319 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263508 COG1-CDG HP:0000368 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263508 COG1-CDG HP:0000470 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263508 COG1-CDG HP:0000902 ORPHA:263508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] 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ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263508 COG1-CDG HP:0007033 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263508 COG1-CDG HP:0007112 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263508 COG1-CDG HP:0008551 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263508 COG1-CDG HP:0011342 ORPHA:263508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0012347 ORPHA:263501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0012358 ORPHA:263501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0000252 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0000340 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0000639 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0000737 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG 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ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0100874 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0002079 ORPHA:263501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0004798 ORPHA:263501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0006583 ORPHA:263501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263501 COG4-CDG HP:0040187 ORPHA:263501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000175 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000189 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000193 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000238 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000239 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000244 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000303 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000316 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000324 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000327 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000337 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000405 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000407 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000444 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000453 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000486 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000494 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000505 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000520 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000648 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000684 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0000822 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0001249 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0001274 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0001331 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0001770 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0002007 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0002032 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0002093 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0002119 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0002308 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0030680 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0002676 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0002983 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0003422 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0004397 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0004487 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0004635 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0005280 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0006101 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0008872 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0009601 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0011304 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0011380 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0011800 ORPHA:87 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0012368 ORPHA:87 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0100615 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87 Apert syndrome HP:0200020 ORPHA:87 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001047 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001250 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001321 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001344 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001347 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001510 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002171 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002376 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002506 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002510 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002599 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0003281 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0004463 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0004840 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0007346 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0008568 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0008936 ORPHA:3240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001873 ORPHA:3240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002013 ORPHA:3240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002014 ORPHA:3240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0002878 ORPHA:3240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001332 ORPHA:3240 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0011002 ORPHA:3240 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0000164 ORPHA:3241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0000174 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0000200 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0000322 ORPHA:3241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0000324 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0000407 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0000430 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0000431 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0000490 ORPHA:3241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0000582 ORPHA:3241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0001643 ORPHA:3241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0002007 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0004524 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3241 Deafness-craniofacial syndrome HP:0010297 ORPHA:3241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0001903 ORPHA:88 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0005528 ORPHA:88 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0001876 ORPHA:88 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0001896 ORPHA:88 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0000225 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0000421 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0000573 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0001873 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0001875 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0002719 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0031364 ORPHA:88 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88 Idiopathic aplastic anemia HP:0030057 ORPHA:88 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0012721 ORPHA:83454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0100026 ORPHA:83454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0011297 ORPHA:83454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0200036 ORPHA:83454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0002814 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0002817 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0011354 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0011355 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0200034 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0200035 ORPHA:83454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0002629 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0002778 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0010640 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0012210 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0031445 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83454 Glomuvenous malformation HP:0045026 ORPHA:83454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0000230 ORPHA:83453 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0000055 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0000155 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0000989 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0001036 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0010783 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0011118 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0012531 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0012537 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0025092 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0100725 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0200041 ORPHA:83453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83453 Vulvovaginal gingival syndrome HP:0001807 ORPHA:83453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0009763 ORPHA:83452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0000958 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0003474 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0004305 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0008383 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0010741 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0010742 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0010783 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0010834 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0012533 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0012534 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83452 Complex regional pain syndrome HP:0040170 ORPHA:83452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0000277 ORPHA:83451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0000326 ORPHA:83451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0003330 ORPHA:83451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0100671 ORPHA:83451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0100717 ORPHA:83451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0000700 ORPHA:83451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0001571 ORPHA:83451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0000309 ORPHA:83451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0430028 ORPHA:83451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0000155 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0000689 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0006308 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0006481 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0006483 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0007626 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0009088 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0010885 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0011069 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0011968 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0012065 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0012531 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0030793 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83451 Florid cemento-osseous dysplasia HP:0031035 ORPHA:83451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83461 Congenital primary aphakia HP:0000504 ORPHA:83461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83461 Congenital primary aphakia HP:0000568 ORPHA:83461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83461 Congenital primary aphakia HP:0000647 ORPHA:83461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83461 Congenital primary aphakia HP:0007707 ORPHA:83461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83461 Congenital primary aphakia HP:0007973 ORPHA:83461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83461 Congenital primary aphakia HP:0008062 ORPHA:83461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0011397 ORPHA:137898 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001260 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001317 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001337 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002073 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002167 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002191 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002312 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002317 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002355 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002460 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002493 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002497 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002505 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0003487 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0006978 ORPHA:137898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001265 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001268 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001270 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001315 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001328 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002151 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002166 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002490 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0003477 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0006858 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0007010 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0008969 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0010794 ORPHA:137898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000365 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000508 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000514 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000639 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000648 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0000651 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001249 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001250 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001252 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001271 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001272 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001276 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001344 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001350 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0001371 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002059 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002078 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0002079 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0005340 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0007668 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0009055 ORPHA:137898 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0000217 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0000969 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0000988 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0000989 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0001097 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0001252 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0001324 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0001373 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0001608 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0001659 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0001945 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0002015 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0002092 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0002093 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0002205 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0002206 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0002664 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0002960 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0003236 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0003326 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0003457 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0006530 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0012735 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0012819 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0100585 ORPHA:81 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0100614 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0100679 ORPHA:81 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:81 Antisynthetase syndrome HP:0100749 ORPHA:81 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000252 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0001249 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0003202 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0003510 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0004326 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000047 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000272 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000274 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000275 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000276 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000286 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000303 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000322 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000400 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000448 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000582 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000772 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000912 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0001510 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0001596 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0008734 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0045074 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0100830 ORPHA:3242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000160 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000175 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000407 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000486 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000518 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000612 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000767 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0000819 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0001172 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0001250 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0001387 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0001572 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0002023 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0002705 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0003328 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0004209 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0008499 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0010761 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3242 Renpenning syndrome HP:0030853 ORPHA:3242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000365 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000524 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000618 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000639 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000648 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000763 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002066 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002073 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002166 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002346 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002355 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0002464 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0005102 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0006254 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0007126 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0007141 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0007263 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0008180 ORPHA:95433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000657 ORPHA:95433 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0001976 ORPHA:82 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0040246 ORPHA:82 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0002204 ORPHA:82 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0002625 ORPHA:82 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0002638 ORPHA:82 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0004831 ORPHA:82 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0004420 ORPHA:82 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0005268 ORPHA:82 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0012636 ORPHA:82 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0030242 ORPHA:82 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0030243 ORPHA:82 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0030248 ORPHA:82 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency HP:0005305 ORPHA:82 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0012531 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0025474 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0030350 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0030782 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0031236 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0200036 ORPHA:3243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0000271 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0000464 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0001061 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0001155 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0001974 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0002829 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0003326 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0003565 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0011118 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0011227 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0011897 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0011944 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0025616 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0030783 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0032324 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0100614 ORPHA:3243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0001903 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0002037 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0002664 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0002719 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0004377 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0004808 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0008066 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0012490 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0020169 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0025452 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0040154 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0040313 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0200037 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0200039 ORPHA:3243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0001644 ORPHA:3243 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0003002 ORPHA:3243 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3243 Sweet syndrome HP:0005550 ORPHA:3243 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000160 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000175 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000248 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000262 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000270 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000316 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000343 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000368 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000453 ORPHA:83 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000463 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000486 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000494 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000520 ORPHA:83 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000772 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0000774 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0001166 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0001363 ORPHA:83 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0001387 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0001883 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0002007 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0030680 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0002757 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0002980 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0003070 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0003196 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0003275 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0009891 ORPHA:83 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0010669 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0012210 ORPHA:83 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83 Antley-Bixler syndrome HP:0100490 ORPHA:83 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002779 ORPHA:95430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0004468 ORPHA:95430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001601 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002093 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002788 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0010307 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0012735 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0030828 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0032355 ORPHA:95430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0000961 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0000973 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001508 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001609 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001622 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001627 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001686 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002020 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002032 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002090 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002094 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002107 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002575 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002643 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0011968 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0012758 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0030864 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0030966 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0031245 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0032177 ORPHA:95430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001629 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001631 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001636 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001640 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001643 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0001750 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002089 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002092 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002097 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002104 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002110 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002780 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0002786 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0010773 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0011590 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95430 Congenital tracheomalacia HP:0012020 ORPHA:95430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000010 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000027 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000028 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000035 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000047 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000072 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000079 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000130 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000135 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000175 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000218 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000238 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000268 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000316 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000324 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000340 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000347 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000364 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000365 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000453 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000478 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000483 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000486 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000492 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000083 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000252 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000286 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000504 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000505 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000508 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000518 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000520 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000568 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000582 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000639 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000813 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0000864 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001000 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001053 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001172 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001199 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001249 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001263 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001347 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001392 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001510 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001511 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001537 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001562 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001631 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001636 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001639 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001643 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001646 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001671 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001679 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001760 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001763 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001770 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001824 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001871 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001873 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001882 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0001903 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002007 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002023 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002119 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002245 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002251 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002414 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002575 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002650 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002664 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002817 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002823 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002827 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0002863 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0040071 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0003022 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0003220 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0004209 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0004322 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0004349 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0005344 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0005522 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0006101 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0006265 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0006501 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0006824 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0007400 ORPHA:84 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0007565 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0007874 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0008053 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0008572 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0008678 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0010293 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0010469 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0012041 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0012210 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0012639 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0012745 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0100026 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0100542 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0100587 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0100760 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84 Fanconi anemia HP:0100867 ORPHA:84 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0004197 ORPHA:3246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0004218 ORPHA:3246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0006019 ORPHA:3246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0000256 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0001032 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0001156 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0001245 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0001770 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0005807 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0006101 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0007477 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0009700 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0010179 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0010182 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0010487 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0030084 ORPHA:3246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0000405 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0001018 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0005650 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0006143 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0010103 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3246 Symphalangism with multiple anomalies of hands and feet HP:0100371 ORPHA:3246 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3248 Distal symphalangism HP:0005048 ORPHA:3248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3248 Distal symphalangism HP:0001387 ORPHA:3248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3248 Distal symphalangism HP:0009773 ORPHA:3248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3248 Distal symphalangism HP:0100490 ORPHA:3248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002066 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002070 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002073 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002078 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002366 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002493 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0003474 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0007256 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0025404 ORPHA:95434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0000496 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0000570 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0001260 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0001761 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002317 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002380 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0007141 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0007338 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0010522 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0010831 ORPHA:95434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0001336 ORPHA:95434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0000505 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0000639 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0000649 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0000662 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0000763 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0000819 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001251 ORPHA:96 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001260 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001268 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001276 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001284 ORPHA:96 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001288 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001310 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001324 ORPHA:96 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001332 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001337 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001639 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0001761 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0002075 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0002167 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0002376 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0002650 ORPHA:96 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0003202 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0004374 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0007256 ORPHA:96 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0007703 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0009830 ORPHA:96 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96 Ataxia with vitamin E deficiency HP:0011675 ORPHA:96 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0001263 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0001332 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0002072 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0002310 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0002322 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0002355 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0003557 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0003687 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0003701 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0004305 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0007153 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0007158 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0009046 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0012751 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0030230 ORPHA:401768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000252 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000508 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000602 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000648 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0001251 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0003477 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0008180 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000365 ORPHA:401768 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000831 ORPHA:401768 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0001638 ORPHA:401768 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0000639 ORPHA:97 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0001251 ORPHA:97 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0002321 ORPHA:97 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0000360 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0000651 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0001260 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0001332 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0002017 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0002076 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0002301 ORPHA:97 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0000473 ORPHA:97 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0000708 ORPHA:97 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0001249 ORPHA:97 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97 Familial paroxysmal ataxia HP:0006855 ORPHA:97 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0000020 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001251 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001257 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001260 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001272 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001310 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001317 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001320 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001324 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001634 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002061 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002073 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002079 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002317 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002355 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0003487 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007108 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007141 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007256 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007361 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007922 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0007979 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0009830 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0011931 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0012104 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0012896 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0100702 ORPHA:98 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0000708 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0001760 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002015 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002066 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002080 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0002495 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0003438 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0003693 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0009027 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0010830 ORPHA:98 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0000802 ORPHA:98 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3230 Deafness-oligodontia syndrome HP:0000359 ORPHA:3230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3230 Deafness-oligodontia syndrome HP:0000407 ORPHA:3230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3230 Deafness-oligodontia syndrome HP:0000677 ORPHA:3230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3230 Deafness-oligodontia syndrome HP:0002321 ORPHA:3230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001308 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001332 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001336 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001618 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001761 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002063 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002072 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002174 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002304 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002310 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002322 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002342 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002345 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002380 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002461 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002495 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0003202 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0003474 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0004305 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007024 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007067 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007141 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007338 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007817 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0010526 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0010530 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0010783 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0010831 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0011168 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0012049 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0012473 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000027 ORPHA:99 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000473 ORPHA:99 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001337 ORPHA:99 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002073 ORPHA:99 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0100543 ORPHA:99 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000496 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000763 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001265 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001271 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001288 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001324 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002071 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002378 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002385 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002423 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0002493 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0003390 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0003477 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0006801 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007256 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0007305 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0009830 ORPHA:99 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000407 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000508 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000514 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000520 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000546 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000572 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000580 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000597 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000608 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000639 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000708 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000726 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0000962 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001250 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001257 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001260 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001266 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001284 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99 Autosomal dominant cerebellar ataxia HP:0001300 ORPHA:99 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95429 Angioma serpiginosum HP:0007797 ORPHA:95429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95429 Angioma serpiginosum HP:0010783 ORPHA:95429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95429 Angioma serpiginosum HP:0011276 ORPHA:95429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95429 Angioma serpiginosum HP:0012733 ORPHA:95429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0000407 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0001053 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0002353 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0002571 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0003202 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3239 Deafness-vitiligo-achalasia syndrome HP:0003510 ORPHA:3239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0001824 ORPHA:95427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0002024 ORPHA:95427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0002244 ORPHA:95427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0004395 ORPHA:95427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0100508 ORPHA:95427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0000832 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0001396 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0001508 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0001510 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0001543 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0001944 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0001977 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0002013 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0002014 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0002019 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0002570 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0002580 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0002591 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0002621 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0003111 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0003270 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0003572 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0004387 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0011473 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0012850 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0030247 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0030248 ORPHA:95427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0001265 ORPHA:95427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0002251 ORPHA:95427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0011100 ORPHA:95427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0011787 ORPHA:95427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95427 Secondary short bowel syndrome HP:0100806 ORPHA:95427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0001249 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0001250 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0001251 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0001508 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0002243 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0002376 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0002421 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0002465 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0003202 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0007267 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0008947 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0011344 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0012537 ORPHA:95428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0000253 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0001137 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0001272 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0001336 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0001943 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0002119 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0002910 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0006846 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0007366 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0007420 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95428 COG8-CDG HP:0008151 ORPHA:95428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0000230 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0000670 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0000682 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0000684 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0000694 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0000706 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0003771 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0006286 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0006297 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0006479 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0006481 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0009722 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0010299 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0011073 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0011084 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0030757 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0040264 ORPHA:83450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0000212 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0000685 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0001572 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0006283 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0006336 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0009085 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83450 Regional odontodysplasia HP:0200025 ORPHA:83450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000027 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000045 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000047 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000054 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008665 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000058 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000062 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000133 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000142 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000771 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000786 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000812 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000815 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000837 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000868 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000939 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0002215 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0002225 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0003251 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008214 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040171 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008232 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008726 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008730 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008734 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008736 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0010464 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0011969 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0012244 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0012870 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0100779 ORPHA:251510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000028 ORPHA:251510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000150 ORPHA:251510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000823 ORPHA:251510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000030 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000149 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000846 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0002750 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008187 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0008193 ORPHA:251510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0000100 ORPHA:251510 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0030680 ORPHA:251510 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251510 46,XY partial gonadal dysgenesis HP:0002667 ORPHA:251510 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0007628 ORPHA:137888 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0008572 ORPHA:137888 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0009902 ORPHA:137888 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000160 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000162 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000175 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000183 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000193 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000293 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000324 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000347 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000368 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000377 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000384 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000678 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000689 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0002098 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0002870 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0008772 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0009895 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0010754 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0025267 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0030022 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0100277 ORPHA:137888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000171 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000256 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000365 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0000508 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0001263 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0001290 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0007627 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0011802 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0011968 ORPHA:137888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137888 Auriculocondylar syndrome HP:0030713 ORPHA:137888 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0000554 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0000988 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001072 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001231 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001367 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001369 ORPHA:92 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001373 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001386 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001387 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001597 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001698 ORPHA:92 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001744 ORPHA:92 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001803 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0001945 ORPHA:92 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0002024 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0002027 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0002103 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0002240 ORPHA:92 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0002829 ORPHA:92 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0002960 ORPHA:92 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0003765 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0005595 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0100721 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0100773 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92 Juvenile idiopathic arthritis HP:0100781 ORPHA:92 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000023 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000053 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000158 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000164 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000212 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000280 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000303 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000316 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000389 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000431 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000670 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000708 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000750 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0000768 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0001249 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0001250 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0001369 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0001387 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0001537 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0001744 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0001763 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0001999 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0002024 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0002167 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0002205 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0002240 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0002360 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0002650 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0002684 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0002750 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0040071 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0003103 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0003196 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0003468 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0004337 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0004568 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0008430 ORPHA:93 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0008551 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0011276 ORPHA:93 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0012068 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0012471 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0100660 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93 Aspartylglucosaminuria HP:0100729 ORPHA:93 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0000383 ORPHA:3232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0000405 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0008572 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0008628 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0009738 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0009739 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0009906 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3232 Deafness-ear malformation-facial palsy syndrome HP:0010628 ORPHA:3232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3233 Cochleosaccular degeneration-cataract syndrome HP:0000408 ORPHA:3233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3233 Cochleosaccular degeneration-cataract syndrome HP:0000518 ORPHA:3233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3233 Cochleosaccular degeneration-cataract syndrome HP:0005102 ORPHA:3233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3233 Cochleosaccular degeneration-cataract syndrome HP:0001251 ORPHA:3233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3233 Cochleosaccular degeneration-cataract syndrome HP:0001250 ORPHA:3233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002066 ORPHA:95 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0001260 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002070 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002141 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0003487 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0009130 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0010831 ORPHA:95 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0000570 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0000639 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0000648 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0001310 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0001324 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0001638 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0001760 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0001761 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002080 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002522 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002527 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002650 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002839 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0003390 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0007010 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0010873 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0030183 ORPHA:95 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0000365 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0000819 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0001257 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0001332 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002015 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002072 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002540 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0002546 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0003431 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95 Friedreich ataxia HP:0007663 ORPHA:95 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3235 Progressive deafness with stapes fixation HP:0000381 ORPHA:3235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3235 Progressive deafness with stapes fixation HP:0008513 ORPHA:3235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000174 ORPHA:3236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000286 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000405 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000413 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000446 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000508 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000545 ORPHA:3236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000581 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000682 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0002213 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0003042 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0003272 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0004209 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0007477 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0007598 ORPHA:3236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome HP:0008773 ORPHA:3236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90 Argininemia HP:0000708 ORPHA:90 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90 Argininemia HP:0001250 ORPHA:90 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90 Argininemia HP:0001263 ORPHA:90 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90 Argininemia HP:0001987 ORPHA:90 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90 Argininemia HP:0002167 ORPHA:90 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90 Argininemia HP:0002353 ORPHA:90 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90 Argininemia HP:0002478 ORPHA:90 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90 Argininemia HP:0004374 ORPHA:90 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90 Argininemia HP:0008339 ORPHA:90 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90 Argininemia HP:0010864 ORPHA:90 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3237 Multiple synostoses syndrome HP:0000405 ORPHA:3237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3237 Multiple synostoses syndrome HP:0001156 ORPHA:3237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3237 Multiple synostoses syndrome HP:0001387 ORPHA:3237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3237 Multiple synostoses syndrome HP:0004279 ORPHA:3237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3237 Multiple synostoses syndrome HP:0009773 ORPHA:3237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3237 Multiple synostoses syndrome HP:0007598 ORPHA:3237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3237 Multiple synostoses syndrome HP:0010579 ORPHA:3237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3237 Multiple synostoses syndrome HP:0011304 ORPHA:3237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3237 Multiple synostoses syndrome HP:0000324 ORPHA:3237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3237 Multiple synostoses syndrome HP:0001597 ORPHA:3237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0000938 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0000939 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0001510 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0001513 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0002653 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0002663 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0002750 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0002857 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0003077 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0003251 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0003782 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0008222 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0008675 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0010458 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0000855 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0000956 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0001397 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0002050 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0002230 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0005978 ORPHA:91 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0000028 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0000061 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0000098 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0000786 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91 Aromatase deficiency HP:0000815 ORPHA:91 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0000405 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0001156 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0001634 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0001653 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0002705 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0003312 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0003510 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0004279 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0005048 ORPHA:3238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0000692 ORPHA:3238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3238 Cardiospondylocarpofacial syndrome HP:0006352 ORPHA:3238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001824 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002014 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002027 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002579 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0004385 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0025085 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0100749 ORPHA:67 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001635 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001697 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001903 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001945 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0001974 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002094 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002105 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002202 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002563 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002625 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0002910 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0003073 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0003155 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0005214 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0011919 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0012735 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0025044 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0032016 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0100282 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67 Amoebiasis due to Entamoeba histolytica HP:0100523 ORPHA:67 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000613 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000708 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000751 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0001250 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0001945 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002013 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002018 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002315 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002383 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002921 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002922 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0200149 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0410263 ORPHA:68 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000324 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000572 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000651 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000711 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000737 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0001254 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0001269 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0001289 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0001317 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002134 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002143 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002181 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002381 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002418 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002500 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002516 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002538 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002721 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0006897 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0007011 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0007185 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0007361 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0010628 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0011441 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0012246 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0012286 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0012747 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0020059 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0025258 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0031179 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0031910 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0032252 ORPHA:68 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000223 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000246 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000618 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0000834 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0001251 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0001259 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0001482 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0001700 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0002090 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0004409 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0011675 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0011947 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0012804 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0030953 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0031731 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0032162 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0032620 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0040197 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0100583 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0200026 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0200034 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0200039 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:68 Amoebiasis due to free-living amoebae HP:0200042 ORPHA:68 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000586 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000765 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000883 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0001344 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002015 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002020 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002100 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002119 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002194 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0003100 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0003199 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0003244 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0003312 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0008897 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0009237 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0009875 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0009882 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0031207 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0100759 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000774 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000940 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0001263 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0001290 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002240 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0002910 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0003016 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0006462 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0011849 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0100774 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000239 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000325 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000463 ORPHA:73230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000316 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000347 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000348 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome HP:0000520 ORPHA:73230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000790 ORPHA:63 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0012577 ORPHA:63 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0030034 ORPHA:63 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000083 ORPHA:63 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000093 ORPHA:63 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000822 ORPHA:63 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0012574 ORPHA:63 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000092 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000097 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000100 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000123 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000407 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000478 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000495 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000794 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0002907 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0003774 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0004722 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0005576 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0011488 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0011501 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0012045 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0012576 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0025005 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0032583 ORPHA:63 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0000608 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0001679 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0002013 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0002015 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0002094 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0002837 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0004942 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0006756 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0007787 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0008665 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0010307 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0012735 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63 Alport syndrome HP:0410019 ORPHA:63 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002091 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002591 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002788 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002808 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002910 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002943 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0003474 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0004438 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0004469 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0004626 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0005978 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0006532 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0007722 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0008373 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0010863 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0011108 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0012622 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0025383 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0030948 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0031865 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000010 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000012 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000016 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000020 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000054 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000099 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000147 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000230 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000311 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000490 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000729 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000771 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000798 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000824 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000832 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000858 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001007 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001123 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001394 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001395 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001397 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001399 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001409 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001433 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001635 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001685 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001744 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001751 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001831 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002020 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002040 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002092 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002098 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002213 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002240 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002292 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002311 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002925 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0003774 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0005616 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0006510 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0007010 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0007787 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0008625 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0008734 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0009381 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0009804 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0009894 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0010790 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0011073 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0011510 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0012041 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0012115 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0012786 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0012860 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0025335 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0025336 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0025488 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0025496 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0030348 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0031507 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0031936 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0100518 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0410019 ORPHA:64 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001251 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001733 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002360 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002480 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0003326 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0010465 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0011147 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0012569 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0100543 ORPHA:64 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000388 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000408 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000548 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000556 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000572 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000618 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000639 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000855 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001513 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0002155 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0003077 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0004322 ORPHA:64 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000009 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000518 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000543 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000613 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000815 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000822 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000842 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0000956 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001328 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001644 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001763 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64 Alström syndrome HP:0001956 ORPHA:64 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0000365 ORPHA:65 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0000512 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0000518 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0000563 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0000639 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0001141 ORPHA:65 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0001249 ORPHA:65 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0001250 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0001252 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0001263 ORPHA:65 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0002084 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0002269 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0004374 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0006817 ORPHA:65 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0007703 ORPHA:65 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65 Leber congenital amaurosis HP:0012795 ORPHA:65 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000648 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000729 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001249 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001250 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001252 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001263 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001999 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0002079 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0007663 ORPHA:401777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000286 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000365 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000411 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000426 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000463 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000486 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000565 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000577 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000582 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000609 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000646 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000722 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001123 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001182 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001344 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0003194 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0007018 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0007766 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0008762 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0011039 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0100704 ORPHA:401777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000540 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000545 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000563 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0000639 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0001257 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0002750 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0004322 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0012448 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401777 Optic atrophy-intellectual disability syndrome HP:0025100 ORPHA:401777 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0000218 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0000368 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0000463 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0000656 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001250 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001252 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001276 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001371 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001522 ORPHA:85212 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001558 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001743 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001744 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001789 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001873 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001876 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0001989 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0002170 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0002240 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0002804 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0003811 ORPHA:85212 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0003826 ORPHA:85212 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0005280 ORPHA:85212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0007479 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85212 Fetal Gaucher disease HP:0008064 ORPHA:85212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0000023 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0000112 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0000280 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0000365 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0000750 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0000768 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0000939 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0000943 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001103 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001250 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001251 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001263 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001290 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001324 ORPHA:87876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001337 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001371 ORPHA:87876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001537 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001541 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001618 ORPHA:87876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001744 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0001789 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0002094 ORPHA:87876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0002240 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0002808 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0003202 ORPHA:87876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0004322 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0005561 ORPHA:87876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0007957 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0010306 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0010741 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87876 Sialidosis type 2 HP:0100022 ORPHA:87876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73229 HANAC syndrome HP:0000083 ORPHA:73229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73229 HANAC syndrome HP:0003394 ORPHA:73229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73229 HANAC syndrome HP:0005562 ORPHA:73229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73229 HANAC syndrome HP:0012841 ORPHA:73229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73229 HANAC syndrome HP:0000790 ORPHA:73229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0001231 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0001249 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0003241 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0003777 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0008388 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0011362 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0045074 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0100643 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000311 ORPHA:3220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000786 ORPHA:3220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0001176 ORPHA:3220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0004322 ORPHA:3220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0011675 ORPHA:3220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000763 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000956 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0001265 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0002514 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0002750 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0008064 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0009830 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0009890 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0010547 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0100490 ORPHA:3220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000135 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000164 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000365 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000407 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000492 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000534 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000614 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000679 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000682 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome HP:0000819 ORPHA:3220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60 Alpha-1-antitrypsin deficiency HP:0000100 ORPHA:60 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60 Alpha-1-antitrypsin deficiency HP:0000952 ORPHA:60 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60 Alpha-1-antitrypsin deficiency HP:0001399 ORPHA:60 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60 Alpha-1-antitrypsin deficiency HP:0002097 ORPHA:60 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60 Alpha-1-antitrypsin deficiency HP:0002240 ORPHA:60 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60 Alpha-1-antitrypsin deficiency HP:0012115 ORPHA:60 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0003396 ORPHA:99857 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0040272 ORPHA:99857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0000224 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0001618 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0002355 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0002922 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0003401 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0003418 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0003473 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0003474 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0006824 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0007209 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0010532 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0010550 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0010871 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0012229 ORPHA:99857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0000622 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0000639 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0001250 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0001283 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0002073 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0002858 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0003409 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0007024 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0007305 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99857 Secondary syringomyelia HP:0100518 ORPHA:99857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0003565 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0030153 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0032106 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0100523 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0100806 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0100889 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001405 ORPHA:480520 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001406 ORPHA:480520 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0011040 ORPHA:480520 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0000077 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0000952 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001945 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0002027 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0002240 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0002904 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0002908 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0003155 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0025143 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0030151 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0032545 ORPHA:480520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0000113 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0000989 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001394 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001399 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001409 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001733 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001873 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001882 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001892 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001971 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0001974 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0002040 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0002248 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0002249 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0002612 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480520 Caroli syndrome HP:0002910 ORPHA:480520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000158 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000280 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000365 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000518 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0001249 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0001263 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0001744 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0002240 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0002652 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0002750 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0004493 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0005280 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0005978 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0007957 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0008821 ORPHA:61 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000023 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000189 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000212 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000316 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000336 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000389 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000400 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000470 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000708 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0001252 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0001385 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0002650 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0002808 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0006487 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0010807 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0011039 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0011354 ORPHA:61 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000256 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000303 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000687 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000689 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0000738 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0001369 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0002205 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0002516 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0010885 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:61 Alpha-mannosidosis HP:0100240 ORPHA:61 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0011755 ORPHA:95496 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0000864 ORPHA:95496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0001508 ORPHA:95496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0004322 ORPHA:95496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0000821 ORPHA:95496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0000823 ORPHA:95496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0001943 ORPHA:95496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0008736 ORPHA:95496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0000028 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0000786 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0000835 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0000873 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0001249 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0001250 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0001263 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0001522 ORPHA:95496 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:95496 Pituitary stalk interruption syndrome HP:0100842 ORPHA:95496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0000407 ORPHA:3222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0001251 ORPHA:3222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0002149 ORPHA:3222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0000083 ORPHA:3222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0001249 ORPHA:3222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0001252 ORPHA:3222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0001679 ORPHA:3222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0002167 ORPHA:3222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0000486 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0000496 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0000822 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0001638 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0011675 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity HP:0003011 ORPHA:3222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0001771 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0002359 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0002515 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003236 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003307 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003391 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003551 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003560 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003691 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003701 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0003707 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0006467 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0030051 ORPHA:62 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0002943 ORPHA:62 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0001508 ORPHA:99852 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0002039 ORPHA:99852 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0002448 ORPHA:99852 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0004325 ORPHA:99852 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0000932 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0001251 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0001257 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0002134 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0002363 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0007366 ORPHA:99852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0000496 ORPHA:99852 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0006958 ORPHA:99852 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0001600 ORPHA:99852 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99852 Ravine syndrome HP:0002104 ORPHA:99852 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000047 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000324 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000358 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000369 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000407 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000411 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0005916 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001249 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001321 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001761 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0002119 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0002120 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0002334 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0005105 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0007477 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0011220 ORPHA:3224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000164 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000286 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000316 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001273 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001596 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001770 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0001956 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0002167 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0002558 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0003468 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0006101 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0010109 ORPHA:3224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome HP:0000407 ORPHA:3225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome HP:0002902 ORPHA:3225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome HP:0010286 ORPHA:3225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001644 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001960 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002150 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002901 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002917 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0012608 ORPHA:73224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0000121 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0000859 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001635 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001645 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001698 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002487 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002829 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0003472 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0003527 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0003739 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0006559 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0011038 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0100598 ORPHA:73224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0002069 ORPHA:73224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000407 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001004 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001873 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002167 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002488 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002878 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0003010 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0005528 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0011991 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0012378 ORPHA:3226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000389 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000572 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000587 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000978 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0000980 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001744 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001824 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001945 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002017 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002076 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002170 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002205 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002240 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002321 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0100724 ORPHA:3226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0001974 ORPHA:3226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0002716 ORPHA:3226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3226 Deafness-lymphedema-leukemia syndrome HP:0005547 ORPHA:3226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000708 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000718 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000736 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000938 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0001072 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0001388 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0003127 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0007018 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0007387 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0007483 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0010719 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0011125 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0011368 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0025080 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0025160 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0100710 ORPHA:73223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000750 ORPHA:73223 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0002353 ORPHA:73223 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000233 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000286 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000337 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000343 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000347 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000431 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000574 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000664 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000689 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0001593 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0001653 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0003307 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0003691 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0005180 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0011065 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0011074 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0011220 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0012365 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0012520 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0040022 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome HP:0040025 ORPHA:73223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0001934 ORPHA:79 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0005261 ORPHA:79 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0000790 ORPHA:79 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0001892 ORPHA:79 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0012151 ORPHA:79 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0012233 ORPHA:79 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0040247 ORPHA:79 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0000225 ORPHA:79 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0000978 ORPHA:79 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0002170 ORPHA:79 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0002653 ORPHA:79 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79 Congenital alpha2-antiplasmin deficiency HP:0011884 ORPHA:79 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0002061 ORPHA:401785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0001260 ORPHA:401785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0001347 ORPHA:401785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0002355 ORPHA:401785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0030051 ORPHA:401785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0001284 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0001317 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0002064 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0002169 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0002943 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0003202 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0006380 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401785 Autosomal recessive spastic paraplegia type 62 HP:0012514 ORPHA:401785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0040075 ORPHA:95494 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000044 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000141 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000457 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000789 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000824 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000938 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001510 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001943 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0002615 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0002920 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0008245 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0008734 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0009888 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0010311 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0010626 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0010627 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0012378 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0040086 ORPHA:95494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000823 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000839 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0002019 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0002750 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0005625 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0008187 ORPHA:95494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000478 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0000609 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001250 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001274 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001331 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0001360 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0004637 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0008501 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0010442 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0011297 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0011344 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0011755 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0012731 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms HP:0100842 ORPHA:95494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002315 ORPHA:74 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0012229 ORPHA:74 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0032061 ORPHA:74 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0000651 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0000737 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0001262 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0001287 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0001945 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002013 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002019 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002027 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002516 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002587 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002829 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0003326 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0003401 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0004396 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0011450 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0012378 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0025258 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0032064 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0410263 ORPHA:74 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0000622 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0000989 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0001250 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0001324 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002018 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002119 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002181 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0002460 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0003237 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0003261 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0003496 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0012531 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0030833 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0031179 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0032336 ORPHA:74 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0001259 ORPHA:74 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:74 Angiostrongyliasis HP:0100963 ORPHA:74 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000003 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000028 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000046 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000126 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000252 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000280 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000316 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000343 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000347 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000365 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000369 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000426 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000445 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000448 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000684 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000750 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0000946 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0001249 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0001250 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0001263 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0001274 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0001631 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0001762 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0002020 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0002089 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0002104 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0002209 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0002213 ORPHA:85201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0002804 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0002974 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0003175 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0003273 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0004279 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0004322 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0006380 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0006443 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0008665 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85201 Genitopatellar syndrome HP:0011968 ORPHA:85201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0000256 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0002597 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0003005 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0010612 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0012032 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0012740 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0012846 ORPHA:306498 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0000729 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0001028 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0001480 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0002664 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0002890 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0003002 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0005584 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0012114 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0045059 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0200034 ORPHA:306498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0000077 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0000854 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0001249 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0003003 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0005987 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0008046 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306498 PTEN hamartoma tumor syndrome HP:0012480 ORPHA:306498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0000276 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0000340 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0000365 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0000403 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0000430 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0000445 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0000648 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0001027 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0001250 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0001256 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0001263 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0001596 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0001629 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0002092 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0002205 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0004322 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0004334 ORPHA:85202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0004415 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0005280 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0009882 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0011108 ORPHA:85202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0011800 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0100593 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85202 Keutel syndrome HP:0100682 ORPHA:85202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85203 Acropectoral syndrome HP:0000765 ORPHA:85203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85203 Acropectoral syndrome HP:0001177 ORPHA:85203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85203 Acropectoral syndrome HP:0006101 ORPHA:85203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000407 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002024 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002028 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002301 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002570 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002588 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0003457 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0004326 ORPHA:3217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000508 ORPHA:3217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000600 ORPHA:3217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0001265 ORPHA:3217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0002167 ORPHA:3217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000496 ORPHA:3217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000992 ORPHA:3217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0001156 ORPHA:3217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome HP:0004279 ORPHA:3217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000023 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000307 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000325 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000365 ORPHA:3218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000470 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000541 ORPHA:3218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000545 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0000579 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0001156 ORPHA:3218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0001256 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0001263 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0001537 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0002007 ORPHA:3218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0002167 ORPHA:3218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0003307 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0003312 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0004322 ORPHA:3218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0006499 ORPHA:3218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome HP:0010306 ORPHA:3218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000154 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000174 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000179 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000212 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000232 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000256 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000276 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000280 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000282 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000286 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000293 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000311 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000316 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000407 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000505 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000508 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000545 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000574 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000664 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000767 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000965 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0000974 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0001156 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0005916 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0001176 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0001249 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0001250 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0001482 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0001760 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0002167 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0002353 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0002414 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0002650 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0002808 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0003298 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0003312 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0004322 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0004493 ORPHA:3219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0009882 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0010783 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0011800 ORPHA:3219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0100255 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0100670 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3219 Fountain syndrome HP:0200034 ORPHA:3219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0003202 ORPHA:70 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0003701 ORPHA:70 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001283 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001284 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001308 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001315 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002015 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002033 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002100 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002355 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002460 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002540 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002643 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002747 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0003327 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0003551 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0003731 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0004878 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0004891 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0009046 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0012378 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0030319 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0031108 ORPHA:70 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001252 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001263 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001270 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001319 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001349 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001371 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001558 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001631 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002019 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002020 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002091 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002421 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002578 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002650 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002791 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002827 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002828 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002878 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002942 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0003698 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0006380 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0006844 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0008959 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0009053 ORPHA:70 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001662 ORPHA:70 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0001942 ORPHA:70 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70 Proximal spinal muscular atrophy HP:0002987 ORPHA:70 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0003652 ORPHA:99845 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0001324 ORPHA:99845 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0001945 ORPHA:99845 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0030234 ORPHA:99845 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0040319 ORPHA:99845 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0000083 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0001315 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0002910 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0003554 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0003558 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0003738 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0008305 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0010969 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0012544 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0025435 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0100614 ORPHA:99845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0000467 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0001919 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0002153 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0002167 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0002355 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0002901 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0002905 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0003394 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0005216 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0007340 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0008997 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0011675 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0030195 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0045037 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0100520 ORPHA:99845 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99845 Genetic recurrent myoglobinuria HP:0005521 ORPHA:99845 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0002014 ORPHA:71 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0003146 ORPHA:71 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0000488 ORPHA:71 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0002570 ORPHA:71 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0002630 ORPHA:71 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0002910 ORPHA:71 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0001508 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0001510 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0002013 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0003270 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0006565 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0100508 ORPHA:71 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0000505 ORPHA:71 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0001397 ORPHA:71 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0003458 ORPHA:71 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0001284 ORPHA:71 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0001927 ORPHA:71 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0003198 ORPHA:71 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0010831 ORPHA:71 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71 Chylomicron retention disease HP:0002155 ORPHA:71 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0000098 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0000256 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0000275 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0000286 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0000316 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0001156 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0001357 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0001363 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0001513 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0002857 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0004209 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0004279 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0005487 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0006101 ORPHA:3210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0000445 ORPHA:3210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0000457 ORPHA:3210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0000486 ORPHA:3210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0001249 ORPHA:3210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0010044 ORPHA:3210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3210 Summitt syndrome HP:0100490 ORPHA:3210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000252 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000708 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000729 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000748 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000750 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000752 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0001250 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0001251 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0001270 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0001337 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002120 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002136 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002167 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002353 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002360 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002465 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0010864 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0011344 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0100716 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000154 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000483 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000486 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0001010 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0001513 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0001999 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002019 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002020 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002286 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002307 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002591 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002650 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0006979 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0007730 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0008947 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0010808 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0011024 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0011968 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0100023 ORPHA:72 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000303 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000508 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000540 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000543 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000545 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000563 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000639 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000646 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000648 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000687 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000718 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000739 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0000817 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0001336 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0001344 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002013 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002015 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002033 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002123 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002133 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0002540 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0005469 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0007266 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0007270 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0008081 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0010465 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0010819 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0011471 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0012569 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0040082 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0040288 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0100703 ORPHA:72 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:72 Angelman syndrome HP:0012469 ORPHA:72 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0002797 ORPHA:73 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0010639 ORPHA:73 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0010657 ORPHA:73 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0000473 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0000938 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0000969 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0002653 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0002683 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0003319 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0004302 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0005216 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0005731 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0009139 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0010754 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0011384 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0011821 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0011849 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0012294 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0031417 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0045039 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0100764 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0200025 ORPHA:73 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0000265 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0000365 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0001167 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0002202 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0002756 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0002823 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0007099 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0007461 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0045027 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0430005 ORPHA:73 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0001287 ORPHA:73 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0002176 ORPHA:73 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0002754 ORPHA:73 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:73 Gorham-Stout disease HP:0040163 ORPHA:73 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0004784 ORPHA:480536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0005227 ORPHA:480536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0200063 ORPHA:480536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0000131 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0000854 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0003003 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0004394 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0008069 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0009592 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0012126 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0012740 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0100743 ORPHA:480536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0000107 ORPHA:480536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis HP:0025274 ORPHA:480536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000407 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000486 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000639 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000684 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000953 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0001053 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0001480 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0001572 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0005599 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0007565 ORPHA:3214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000322 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000348 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000482 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000612 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0001288 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0007730 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0011483 ORPHA:3214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0000679 ORPHA:3214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0001276 ORPHA:3214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0002705 ORPHA:3214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0008499 ORPHA:3214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type HP:0200007 ORPHA:3214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0001257 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0001271 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0002355 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0002815 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0005109 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0007083 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0007178 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401780 Autosomal recessive spastic paraplegia type 61 HP:0012407 ORPHA:401780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001250 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001511 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001518 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001935 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001954 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002059 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002360 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0010864 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000010 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000166 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000189 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000212 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000252 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000294 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000303 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000316 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000385 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000403 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000405 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000431 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000457 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000491 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000527 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001169 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001251 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001290 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001347 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001537 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001845 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002002 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002028 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002240 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0005280 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0006480 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0006532 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0006895 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0007041 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0007333 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0008551 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0009826 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0010808 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0011229 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0011341 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0020045 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0031123 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0031629 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0100540 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0100699 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0200037 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000280 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001508 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001903 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0001974 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0002719 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0004322 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0011897 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0410292 ORPHA:99843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000729 ORPHA:99843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000135 ORPHA:3216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000218 ORPHA:3216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000369 ORPHA:3216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000377 ORPHA:3216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000384 ORPHA:3216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000396 ORPHA:3216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000402 ORPHA:3216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000405 ORPHA:3216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0000407 ORPHA:3216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0001263 ORPHA:3216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0004299 ORPHA:3216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0004452 ORPHA:3216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3216 Conductive deafness-malformed external ear syndrome HP:0008551 ORPHA:3216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0003326 ORPHA:45 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0003394 ORPHA:45 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0003690 ORPHA:45 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0003738 ORPHA:45 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0009020 ORPHA:45 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0002151 ORPHA:45 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:45 Adenosine monophosphate deaminase deficiency HP:0008331 ORPHA:45 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0000219 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0000248 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0000252 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0000319 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0000343 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0000369 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0000463 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0001249 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0001250 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0001290 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0001344 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0001999 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0003196 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0005469 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0005487 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0007103 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0011344 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0000162 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0000246 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0000389 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0000407 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0000509 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0000988 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0001053 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0001287 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0001369 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0001508 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0001596 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0001824 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0001873 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0001875 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0001903 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0001945 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0002024 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0002028 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0002088 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0002664 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0002721 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0002754 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0002901 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0002960 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0004322 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0004432 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0006532 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0012115 ORPHA:47 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0012378 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0100658 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0100763 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0100765 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0100806 ORPHA:47 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0100838 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47 X-linked agammaglobulinemia HP:0200042 ORPHA:47 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0001258 ORPHA:401795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0000639 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0001762 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002061 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002064 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002169 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002395 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002509 ORPHA:401795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0001249 ORPHA:401795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0001317 ORPHA:401795 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:401795 Autosomal recessive spastic paraplegia type 59 HP:0002500 ORPHA:401795 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0001712 ORPHA:217607 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0025169 ORPHA:217607 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0001508 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0001635 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0002094 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0005110 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0005133 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0011675 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0012664 ORPHA:217607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0001653 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0001962 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0004308 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0004890 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0011713 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0012735 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0040081 ORPHA:217607 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217607 Familial dilated cardiomyopathy HP:0001677 ORPHA:217607 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:48 Congenital bilateral absence of vas deferens HP:0012210 ORPHA:48 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48 Congenital bilateral absence of vas deferens HP:0000798 ORPHA:48 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48 Congenital bilateral absence of vas deferens HP:0003251 ORPHA:48 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48 Congenital bilateral absence of vas deferens HP:0011962 ORPHA:48 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48 Congenital bilateral absence of vas deferens HP:0012873 ORPHA:48 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:41 Dyschromatosis symmetrica hereditaria HP:0001304 ORPHA:41 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:41 Dyschromatosis symmetrica hereditaria HP:0007988 ORPHA:41 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:41 Dyschromatosis symmetrica hereditaria HP:0011509 ORPHA:41 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:41 Dyschromatosis symmetrica hereditaria HP:0012733 ORPHA:41 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001252 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001315 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001410 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001987 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002013 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002240 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003215 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003473 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003701 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003738 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0011936 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0030199 ORPHA:42 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0000256 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0000750 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001251 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001254 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001259 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001397 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001640 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001943 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0001946 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002014 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002069 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002373 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002875 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0002910 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003198 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003202 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003236 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0003394 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0004326 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0005684 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0007185 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0011675 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0012378 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0040155 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency HP:0045040 ORPHA:42 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000504 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000505 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000572 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000708 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000726 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000752 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0001249 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0001288 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0001328 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0001730 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0001939 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0002311 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0002312 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0002315 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0002385 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0003474 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0004302 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0007018 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0007199 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0008969 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0100543 ORPHA:43 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000011 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000718 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000734 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000846 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0001123 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0001269 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0002381 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0002516 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0002839 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0003154 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0008768 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0011733 ORPHA:43 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000651 ORPHA:43 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0000802 ORPHA:43 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43 X-linked adrenoleukodystrophy HP:0003470 ORPHA:43 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000174 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000256 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000268 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000368 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000407 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000463 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000486 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000505 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000508 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000639 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000648 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0001250 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0001252 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0001347 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0001392 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0001939 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0002269 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0002353 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0002376 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0004322 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0007598 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000260 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000348 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000431 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0000518 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0007703 ORPHA:44 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0008207 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0011344 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44 Neonatal adrenoleukodystrophy HP:0100022 ORPHA:44 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0000014 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0000028 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0000052 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0000062 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0000072 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0000126 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0000358 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0000800 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0001562 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0001629 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0001631 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0001776 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0002023 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0002089 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0002575 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0003196 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0005280 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0005944 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0006827 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0009800 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0010480 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0010945 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0010958 ORPHA:49 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0030261 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0012583 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0012584 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0012620 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0012732 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49 Penile agenesis HP:0100590 ORPHA:49 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0008066 ORPHA:555905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0031234 ORPHA:555905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0200037 ORPHA:555905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0000989 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0011354 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0012531 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0030057 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0031539 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0100792 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0200035 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0200039 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0200041 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0200097 ORPHA:555905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0001880 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0003261 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0025528 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0031292 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0032335 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:555905 IgA pemphigus HP:0100279 ORPHA:555905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000164 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000211 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000478 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000504 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000632 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000821 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000935 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000938 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000939 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000944 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000960 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000966 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0000975 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0001252 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0001371 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0001376 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0001511 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0001562 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0001762 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0001954 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0002098 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0002099 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0002104 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0012332 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0002650 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0002652 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0002757 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0002857 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0002983 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0002987 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0003016 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0003103 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0003401 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0004322 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0006380 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0006487 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0006844 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0007328 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0008000 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0008872 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0010298 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0012785 ORPHA:3206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0100028 ORPHA:3206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3206 Stüve-Wiedemann syndrome HP:0100490 ORPHA:3206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000252 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000316 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000347 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000431 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000494 ORPHA:3207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000664 ORPHA:3207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0001181 ORPHA:3207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0001249 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0001252 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0001347 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0002007 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0002119 ORPHA:3207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0002120 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0004322 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0007360 ORPHA:3207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0007370 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0012430 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0006801 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0007083 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0007272 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0007350 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0007663 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000737 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001250 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001251 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001285 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001290 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001511 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002313 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002359 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002474 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003202 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0005150 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0006380 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0006895 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0008872 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0011343 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0012817 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0011166 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0040196 ORPHA:3208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000076 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000544 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000580 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000618 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000639 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000726 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002421 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002505 ORPHA:3208 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0000478 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001257 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001270 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001626 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001639 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001712 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0001824 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002123 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002333 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0002376 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003324 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003388 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003487 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003508 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003510 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003693 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003701 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0003756 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3208 Isolated succinate-CoQ reductase deficiency HP:0005162 ORPHA:3208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0000268 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0000912 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0001156 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0001387 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0002007 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0002650 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0002808 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0003086 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0003300 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0003307 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0003312 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0003498 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0004568 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0005280 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0005692 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0006487 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0008422 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40 Acromesomelic dysplasia, Maroteaux type HP:0011220 ORPHA:40 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000277 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0001182 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0001773 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0001831 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0004322 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0004408 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0009882 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0011675 ORPHA:3201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000176 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000294 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000668 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0001373 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0002705 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0010185 ORPHA:3201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000162 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000252 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0001249 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0010044 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0100490 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001878 ORPHA:3202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001930 ORPHA:3202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0005502 ORPHA:3202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001081 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001744 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001923 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001972 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001981 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0003281 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0003573 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0011042 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0025435 ORPHA:3202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0000969 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001046 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001907 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0002027 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0003265 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0004804 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0005518 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0010972 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0012431 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0020063 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0025548 ORPHA:3202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0001901 ORPHA:3202 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0030242 ORPHA:3202 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3202 Dehydrated hereditary stomatocytosis HP:0030950 ORPHA:3202 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000739 ORPHA:444002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001252 ORPHA:444002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001263 ORPHA:444002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000219 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000286 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000341 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000347 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000358 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000369 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000486 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000508 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000545 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000574 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000722 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000736 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000750 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000753 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000817 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000953 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001028 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001156 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001250 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001256 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001260 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001513 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0001773 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0002079 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0002194 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0002307 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0002421 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0002705 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0004209 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0005280 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0007018 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0007598 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0011368 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0011968 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0012433 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0012448 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0012758 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0030190 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0200034 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0200055 ORPHA:444002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444002 11q22.2q22.3 microdeletion syndrome HP:0000708 ORPHA:444002 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000750 ORPHA:447997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001249 ORPHA:447997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001347 ORPHA:447997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001252 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001270 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001276 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002015 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002061 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002079 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0005484 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0011451 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0012444 ORPHA:447997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000020 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000316 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000369 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000411 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000431 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000664 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000733 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000737 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000752 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0001999 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002020 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002069 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002169 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002205 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002521 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0002828 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0003739 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0005280 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0006808 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0011471 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0012167 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0012469 ORPHA:447997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0001878 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0001923 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0004446 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0005502 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0025065 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0025547 ORPHA:3203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0001046 ORPHA:3203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0001744 ORPHA:3203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0001977 ORPHA:3203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0011273 ORPHA:3203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3203 Overhydrated hereditary stomatocytosis HP:0025435 ORPHA:3203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0000348 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0000490 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0000616 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0000979 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0001746 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0001872 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0002167 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0003011 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0004322 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0008064 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0001903 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome HP:0001928 ORPHA:3204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001251 ORPHA:94147 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001260 ORPHA:94147 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001310 ORPHA:94147 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001347 ORPHA:94147 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000548 ORPHA:94147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0002015 ORPHA:94147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000572 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000597 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000602 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000639 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001098 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001263 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001268 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001270 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001272 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001319 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001324 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001508 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0001635 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0002059 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0002075 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0002310 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0003474 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0003487 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0007663 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0011968 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0012452 ORPHA:94147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000608 ORPHA:94147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000613 ORPHA:94147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000618 ORPHA:94147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0000709 ORPHA:94147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94147 Spinocerebellar ataxia type 7 HP:0012047 ORPHA:94147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0000707 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0000716 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0000870 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0000958 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0001254 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0001510 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0001609 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0002750 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0005990 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0006579 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0008202 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0008245 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0012378 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0012758 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0025483 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0025502 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0031219 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0031507 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0032210 ORPHA:99832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0000853 ORPHA:99832 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0002925 ORPHA:99832 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome HP:0030057 ORPHA:99832 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0001250 ORPHA:3205 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0005306 ORPHA:3205 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000486 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000501 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000648 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000708 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0001249 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0001297 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0001347 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0007018 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0100659 ORPHA:3205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000212 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000238 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000256 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000364 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000478 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000496 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000504 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000524 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000541 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000610 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000612 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000618 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0000729 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0001100 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0001131 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0002015 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0002120 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0002167 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0002204 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0002308 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0002514 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0004936 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0008046 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0012377 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0100761 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3205 Sturge-Weber syndrome HP:0100774 ORPHA:3205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0000024 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0000364 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0000366 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0000478 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0000504 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0000592 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0000787 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0000822 ORPHA:56 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0001000 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0001369 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0001373 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0001386 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0001387 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0001597 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0001654 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0001658 ORPHA:56 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0001717 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0002621 ORPHA:56 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0002758 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0002829 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0003355 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0004349 ORPHA:56 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0004380 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0004382 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0004690 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0005645 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0007400 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0100550 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0100593 ORPHA:56 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56 Alkaptonuria HP:0100773 ORPHA:56 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001945 ORPHA:57 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0012545 ORPHA:57 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001324 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001878 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0003326 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0003458 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0003558 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0003756 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0008331 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0009045 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0100295 ORPHA:57 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0000750 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001249 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001270 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001328 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001510 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0001919 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0002153 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0002913 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0003199 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57 Glycogen storage disease due to aldolase A deficiency HP:0011675 ORPHA:57 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000256 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001249 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001250 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001257 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001274 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001347 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001355 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001508 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002007 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002017 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002167 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002169 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002353 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002360 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002650 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0007256 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0100729 ORPHA:58 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000496 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000508 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000639 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000651 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000712 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000716 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000975 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001251 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001260 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001288 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001337 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001618 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002015 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002019 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002045 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002381 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002445 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002514 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002615 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002808 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0010535 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0010628 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0100247 ORPHA:58 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000218 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000238 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000470 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000819 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000821 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000822 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000826 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0000938 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001252 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001324 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0001645 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002072 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002093 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002376 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002383 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002410 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0012332 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0002607 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0003307 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0007481 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:58 Alexander disease HP:0100716 ORPHA:58 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001249 ORPHA:59 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0008936 ORPHA:59 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000275 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000276 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000750 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000767 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001251 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001257 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001266 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001332 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001347 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001531 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001763 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002058 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002751 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002926 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0003202 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0007256 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0008081 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0008872 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0012444 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0012448 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0031936 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0045082 ORPHA:59 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000028 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000252 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000639 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001250 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001256 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001319 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001348 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001371 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001558 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002071 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002187 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002342 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002421 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002509 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0002510 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0003324 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0003487 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0004322 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0006579 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0010864 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0011448 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001518 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001561 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0001622 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0004488 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0011451 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0100660 ORPHA:59 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000028 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000069 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000100 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000248 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000280 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000307 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000311 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000316 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000322 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000347 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000411 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000486 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000490 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000494 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000563 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000615 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000772 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000822 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0000823 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0001131 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0001256 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0001328 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0001396 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0001508 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0001511 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0001629 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0001631 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0002007 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0002240 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0002750 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0003022 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0003189 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0003298 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0003312 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0003422 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0004209 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0004617 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0004969 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0006571 ORPHA:52 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0008678 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0009882 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0012368 ORPHA:52 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52 Alagille syndrome HP:0100585 ORPHA:52 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0000164 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0000238 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0000256 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0000365 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0000505 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0000618 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0000648 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0000670 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0000944 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0005916 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0001369 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0001373 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0001881 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0001903 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0002007 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0002653 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0002754 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0002757 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0002758 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0002857 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0002901 ORPHA:53 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0004322 ORPHA:53 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0005789 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0005930 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0006824 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0007626 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0009882 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0010628 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53 Albers-Schönberg osteopetrosis HP:0010885 ORPHA:53 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0000483 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0000486 ORPHA:54 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0000505 ORPHA:54 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0000545 ORPHA:54 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0000613 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0000615 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0000639 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0001103 ORPHA:54 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0001107 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0001480 ORPHA:54 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0005592 ORPHA:54 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0007730 ORPHA:54 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0007750 ORPHA:54 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54 X-linked recessive ocular albinism HP:0008069 ORPHA:54 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0000539 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0000613 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0000639 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0000992 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0007513 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0007663 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0007730 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0007750 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0007894 ORPHA:55 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0000486 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0001010 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0001107 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0002226 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0002227 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0005599 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0006739 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0011358 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0011364 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0200098 ORPHA:55 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0002297 ORPHA:55 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0002671 ORPHA:55 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0000612 ORPHA:55 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:55 Oculocutaneous albinism HP:0012056 ORPHA:55 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome HP:0000407 ORPHA:1490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome HP:0000505 ORPHA:1490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome HP:0000639 ORPHA:1490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome HP:0001131 ORPHA:1490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome HP:0007957 ORPHA:1490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0000252 ORPHA:1497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0001249 ORPHA:1497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0001250 ORPHA:1497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0001257 ORPHA:1497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0001321 ORPHA:1497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0001324 ORPHA:1497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0002251 ORPHA:1497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000252 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000262 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000486 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000545 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000639 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0001249 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0001250 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0001263 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0001274 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0001363 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0002353 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0002410 ORPHA:1496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0004374 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0007703 ORPHA:1496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002315 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0003236 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0003237 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0003326 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0003645 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0020071 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0025258 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0025435 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0030833 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0032198 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0200026 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000225 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001873 ORPHA:99827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001945 ORPHA:99827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0003496 ORPHA:99827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0030005 ORPHA:99827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000421 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002014 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002017 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002027 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002039 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002240 ORPHA:99827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000509 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000613 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000707 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000713 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000712 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000790 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000822 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000952 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000975 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000979 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001259 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001262 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001289 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001399 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001649 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001662 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001744 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001882 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001974 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002105 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002248 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002249 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002321 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002380 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002615 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002716 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0025143 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0031364 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0100247 ORPHA:99827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000031 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000093 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000573 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0000846 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001082 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001541 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001698 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001735 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0001876 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002092 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0002829 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0005162 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0007420 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011029 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011710 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011850 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011854 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011896 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0011897 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0012151 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0012219 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0012282 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0012819 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0025420 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0031218 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0100309 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99827 Crimean-Congo hemorrhagic fever HP:0100796 ORPHA:99827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000160 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000174 ORPHA:1495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000252 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000347 ORPHA:1495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000348 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000384 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000411 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000639 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000648 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001250 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001276 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001510 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001511 ORPHA:1495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001522 ORPHA:1495 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001608 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0001883 ORPHA:1495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0002020 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0002079 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0002119 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0030680 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0002750 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0003196 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0004322 ORPHA:1495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0006532 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0010864 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0010978 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0100490 ORPHA:1495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0000225 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0000421 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0000967 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0000978 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0000988 ORPHA:99828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0000989 ORPHA:99828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0001254 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0001342 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0001541 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0001873 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0001882 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0001945 ORPHA:99828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0002014 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0002017 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0002027 ORPHA:99828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0002239 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0002240 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0002315 ORPHA:99828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0002615 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0002829 ORPHA:99828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0003075 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99828 Dengue fever HP:0006543 ORPHA:99828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0001945 ORPHA:99829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0002018 ORPHA:99829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0003496 ORPHA:99829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0020071 ORPHA:99829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0031964 ORPHA:99829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0000083 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0001662 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0001892 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0001919 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0001942 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0002013 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0002027 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0002248 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0002315 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0002829 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0003236 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0003259 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0003326 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0006277 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0025143 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0030139 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0030783 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0031956 ORPHA:99829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0000952 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0001250 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0001259 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0001735 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0001873 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0001974 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0002014 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0002904 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0003225 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0003419 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0005115 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0008151 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0011897 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0011900 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0030005 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0031273 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0032066 ORPHA:99829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0000988 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0002133 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0002516 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0011029 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0012664 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0031690 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99829 Yellow fever HP:0100519 ORPHA:99829 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0000218 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0000316 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0000407 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0000437 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0000518 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0000601 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0000639 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0000648 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001010 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001103 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001249 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001250 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001252 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001263 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001274 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001321 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001387 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001522 ORPHA:1493 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001638 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0001947 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0002120 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0002205 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0002353 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0002360 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0002719 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0004315 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0004322 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0005374 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0005999 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0002282 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0007703 ORPHA:1493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0008348 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0008872 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0011968 ORPHA:1493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1493 Vici syndrome HP:0012110 ORPHA:1493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0001945 ORPHA:99824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0003496 ORPHA:99824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0005268 ORPHA:99824 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0020071 ORPHA:99824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0025406 ORPHA:99824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0400008 ORPHA:99824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0001324 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0002015 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0002017 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0002027 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0002315 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0012735 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0025439 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0100749 ORPHA:99824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0000282 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0000365 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0000509 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0000952 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0001250 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0001622 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0001892 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0002014 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0002094 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0002829 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0003418 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0031273 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0100520 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99824 Lassa fever HP:0100806 ORPHA:99824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000175 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000204 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000252 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000322 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000411 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000541 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000567 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000568 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000588 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000639 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000648 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000823 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000826 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000892 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000902 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0000921 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0001000 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0001012 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0001252 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0001257 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0001276 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0001302 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0001338 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0001357 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0001385 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0002019 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0002020 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0002024 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0002036 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0002119 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0002126 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0002342 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0002353 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0002650 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0002884 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0003305 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0003316 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0004374 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0005338 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0005815 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0007360 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0007703 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0008872 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0010759 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0010864 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0011343 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0011344 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0012469 ORPHA:50 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0200008 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50 Aicardi syndrome HP:0200055 ORPHA:50 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0000751 ORPHA:99825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0001250 ORPHA:99825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0001259 ORPHA:99825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0001336 ORPHA:99825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0001337 ORPHA:99825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0001945 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0002017 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0002039 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0002098 ORPHA:99825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0002315 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0002321 ORPHA:99825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0002383 ORPHA:99825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0002615 ORPHA:99825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0003326 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0012378 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0012735 ORPHA:99825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99825 Nipah virus disease HP:0100776 ORPHA:99825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0009709 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0009710 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0012444 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0030356 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000054 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000369 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000496 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000501 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000508 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000639 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000819 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000821 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000965 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001063 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001087 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001337 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001357 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001369 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001609 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001640 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002313 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002315 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002510 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002650 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001257 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001263 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001276 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002132 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002139 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002187 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0007052 ORPHA:51 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000252 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000625 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000737 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000958 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001250 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001332 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001433 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001955 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002071 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002079 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002119 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002355 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002371 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002376 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002415 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002514 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002910 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002960 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0000444 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0004322 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0004374 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0007076 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0008936 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0009704 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0002828 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0003552 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0004809 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0006579 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0007108 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0007256 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0012490 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0030880 ORPHA:51 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0001639 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0004942 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0004963 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0005550 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0011834 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0030038 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0040140 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0100578 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51 Aicardi-Goutières syndrome HP:0100614 ORPHA:51 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002716 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002829 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002900 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002910 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0003073 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0003128 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0003236 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0003256 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0003259 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0003418 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0003645 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0008151 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0011029 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0011151 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0011896 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0012534 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0025085 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0030139 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0031246 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0031273 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0040186 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0410288 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0000554 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0000709 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001882 ORPHA:99826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001888 ORPHA:99826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0010702 ORPHA:99826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0020071 ORPHA:99826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0030005 ORPHA:99826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001892 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001923 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001945 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002013 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002014 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002027 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002039 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002315 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0003326 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0004332 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0012137 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0025143 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0030953 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0032043 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0032169 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0410257 ORPHA:99826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0000083 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0000718 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0000967 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0000978 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0000988 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001250 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001254 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001259 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001289 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001649 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001662 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001873 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001943 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001944 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002018 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002045 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002329 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002615 ORPHA:99826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0000952 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001369 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001701 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001733 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0001987 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0002480 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0004360 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0005521 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0011024 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0011106 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99826 Marburg hemorrhagic fever HP:0100796 ORPHA:99826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001639 ORPHA:444013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0003128 ORPHA:444013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0000707 ORPHA:444013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0008947 ORPHA:444013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0000505 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0000961 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001250 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001256 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001263 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001508 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001635 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001667 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001712 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0001716 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0002415 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0002878 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0003388 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0008347 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0008872 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0010307 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0011923 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0012666 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0012696 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0012747 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0012751 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0012763 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0100543 ORPHA:444013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0000978 ORPHA:177926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0003125 ORPHA:177926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0000132 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0000421 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0001892 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0004846 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0006298 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0011890 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0011891 ORPHA:177926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0003645 ORPHA:177926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0005261 ORPHA:177926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177926 Bleeding disorder in hemophilia A carriers HP:0007420 ORPHA:177926 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000248 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000272 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000368 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000370 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000405 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000413 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000463 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000486 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000772 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000776 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0000921 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0001249 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0001252 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0001537 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0001545 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0001629 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0002007 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0002093 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0002650 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0003272 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0004322 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0004349 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0005692 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0007477 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0009623 ORPHA:1488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1488 Cooper-Jabs syndrome HP:0100490 ORPHA:1488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1487 Cooks syndrome HP:0001156 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1487 Cooks syndrome HP:0001171 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1487 Cooks syndrome HP:0001199 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1487 Cooks syndrome HP:0001810 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1487 Cooks syndrome HP:0008388 ORPHA:1487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1487 Cooks syndrome HP:0008391 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1487 Cooks syndrome HP:0010624 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1487 Cooks syndrome HP:0011304 ORPHA:1487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0001892 ORPHA:329971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0001903 ORPHA:329971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0002573 ORPHA:329971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0001017 ORPHA:329971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0001510 ORPHA:329971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0000969 ORPHA:329971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0005227 ORPHA:329971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0004394 ORPHA:329971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0030256 ORPHA:329971 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0100896 ORPHA:329971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli HP:0004783 ORPHA:329971 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000316 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000347 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000368 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000465 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000470 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0000772 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0001376 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0001561 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0002089 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0002757 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0003100 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0003103 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0003202 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0003272 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0003312 ORPHA:1486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0004322 ORPHA:1486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0009775 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1486 Lethal congenital contracture syndrome type 1 HP:0009811 ORPHA:1486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0000175 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0000632 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0000966 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0001263 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0001376 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0002804 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0100335 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0100543 ORPHA:1484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:477781 Primary condylar hyperplasia HP:3000077 ORPHA:477781 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:477781 Primary condylar hyperplasia HP:0000306 ORPHA:477781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477781 Primary condylar hyperplasia HP:0000324 ORPHA:477781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477781 Primary condylar hyperplasia HP:0009102 ORPHA:477781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477781 Primary condylar hyperplasia HP:0010754 ORPHA:477781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477781 Primary condylar hyperplasia HP:0001572 ORPHA:477781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0000958 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0000988 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0000989 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0000992 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001029 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001252 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001260 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001324 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001369 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001376 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001596 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001609 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001618 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001638 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001681 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001701 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001824 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0001945 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0002015 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0002019 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0002027 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0002091 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0002094 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0002206 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0002239 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0002633 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0002829 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0002960 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0003236 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0003326 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0003394 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0003457 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0003565 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0003761 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0010783 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0011227 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0011675 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0011710 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0012378 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0012735 ORPHA:93672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0100540 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0100579 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0100585 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0100614 ORPHA:93672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93672 Juvenile dermatomyositis HP:0200042 ORPHA:93672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0000365 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0000529 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0001249 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0001263 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002123 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002133 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002151 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002273 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002376 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002500 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002506 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0003200 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0008347 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0011923 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0011924 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0031165 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0200134 ORPHA:477774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0000729 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0001344 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0001790 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002015 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0002079 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0004305 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0007351 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0010853 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0012531 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0025517 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0040288 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477774 Combined oxidative phosphorylation defect type 27 HP:0100275 ORPHA:477774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329967 Intermittent hydrarthrosis HP:0001386 ORPHA:329967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329967 Intermittent hydrarthrosis HP:0002829 ORPHA:329967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329967 Intermittent hydrarthrosis HP:0002815 ORPHA:329967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329967 Intermittent hydrarthrosis HP:0045086 ORPHA:329967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329967 Intermittent hydrarthrosis HP:0000934 ORPHA:329967 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000003 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000076 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000083 ORPHA:1475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000089 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000110 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000365 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000480 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000486 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000505 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000545 ORPHA:1475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000588 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0000639 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0001093 ORPHA:1475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1475 Renal coloboma syndrome HP:0005692 ORPHA:1475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000407 ORPHA:1473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000486 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000501 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000505 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000508 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000518 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000541 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000567 ORPHA:1473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000568 ORPHA:1473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000612 ORPHA:1473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000627 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000639 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000648 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0000790 ORPHA:1473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0001249 ORPHA:1473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0002744 ORPHA:1473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability HP:0007957 ORPHA:1473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0000104 ORPHA:1471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0000567 ORPHA:1471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0001817 ORPHA:1471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0004322 ORPHA:1471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0005831 ORPHA:1471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0009882 ORPHA:1471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0011304 ORPHA:1471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0100490 ORPHA:1471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome HP:0100798 ORPHA:1471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1479 Atrial septal defect-atrioventricular conduction defects syndrome HP:0001671 ORPHA:1479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1479 Atrial septal defect-atrioventricular conduction defects syndrome HP:0011675 ORPHA:1479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1479 Atrial septal defect-atrioventricular conduction defects syndrome HP:0011710 ORPHA:1479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012412 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012650 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0025160 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0030339 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0031507 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0100716 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0200055 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000938 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000939 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001250 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001256 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001263 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001385 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001518 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001558 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001999 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002342 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002578 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002714 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002870 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002871 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0006889 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0010741 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0010829 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0031100 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0031169 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0100739 ORPHA:177904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000826 ORPHA:177904 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000028 ORPHA:177904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001513 ORPHA:177904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002119 ORPHA:177904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002591 ORPHA:177904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0008872 ORPHA:177904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000044 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000046 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000060 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000064 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000486 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000504 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000708 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000709 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000717 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000729 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000786 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000789 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000819 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000823 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0000824 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001010 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001252 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001328 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001508 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0001773 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002205 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002360 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0002650 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0003241 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0004322 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0005599 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0007730 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0007874 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0008734 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0008770 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0009088 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0010627 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0011734 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0011787 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012104 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012105 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012166 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012411 ORPHA:177904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000028 ORPHA:177901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001513 ORPHA:177901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002119 ORPHA:177901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0008872 ORPHA:177901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000044 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000046 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000060 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000064 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000486 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000504 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000708 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000709 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000717 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000729 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000786 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000789 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000819 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000823 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000824 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001010 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001252 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001263 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001328 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001508 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001773 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002205 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002342 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002360 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002591 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002650 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0003241 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0004322 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0005599 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0007730 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0007874 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0008734 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0008770 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0009088 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0010627 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0011734 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0011787 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012104 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012105 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012166 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012411 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012412 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0012650 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0025160 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0030339 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0031507 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0100716 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0100739 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0200055 ORPHA:177901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000219 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000938 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000939 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001250 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001256 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001385 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001518 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0001558 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002578 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002714 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002870 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0002871 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0006889 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0010741 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0010829 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0031100 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0031169 ORPHA:177901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000826 ORPHA:177901 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0000303 ORPHA:2790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0000407 ORPHA:2790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0000639 ORPHA:2790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0000772 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0003103 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0003312 ORPHA:2790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0004493 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0005019 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0005789 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0010628 ORPHA:2790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0100789 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0100861 ORPHA:2790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2790 Endosteal hyperostosis, Worth type HP:0100923 ORPHA:2790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0001896 ORPHA:300298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0001903 ORPHA:300298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0003281 ORPHA:300298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0012464 ORPHA:300298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000027 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000135 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000864 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000980 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0002910 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0003452 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0004823 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0012378 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0012465 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0025066 ORPHA:300298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000821 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000846 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0000957 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0001433 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0001510 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300298 Severe congenital hypochromic anemia with ringed sideroblasts HP:0012134 ORPHA:300298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0000360 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0000491 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0000613 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0001751 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0002321 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0007663 ORPHA:1467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0000407 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0001894 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0001903 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0001974 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0003565 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0100533 ORPHA:1467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0000509 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0000554 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0000618 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0001659 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0002633 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0005310 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0100532 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1467 Cogan syndrome HP:0100534 ORPHA:1467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000135 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000232 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000252 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000347 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000407 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000431 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000470 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000505 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000518 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000568 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000648 ORPHA:1466 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0000992 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0001250 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0001252 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0001276 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0001315 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0001387 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0001511 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0001522 ORPHA:1466 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0001883 ORPHA:1466 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0002120 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0002514 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0002804 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0004322 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0005105 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0005487 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0007360 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0007703 ORPHA:1466 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0008872 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0009830 ORPHA:1466 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0010978 ORPHA:1466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0011344 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1466 COFS syndrome HP:0100490 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000154 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000179 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000280 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000574 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000998 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001792 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0011231 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0011968 ORPHA:1465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000028 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000119 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000219 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000289 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000294 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000365 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000455 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000463 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000486 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000505 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000508 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000684 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000708 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001007 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001250 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001388 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001510 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001627 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001999 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0002209 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0002342 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0002650 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0002719 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0002750 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0002788 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0003196 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0005280 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0008398 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0008897 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0008947 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0009237 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0009928 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0010864 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0011937 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0011951 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0012810 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0030084 ORPHA:1465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000047 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000085 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000545 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000718 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000729 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000752 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001274 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001305 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001344 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001629 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001631 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001636 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001643 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0009879 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0012523 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0100790 ORPHA:1465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0000252 ORPHA:1465 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0001511 ORPHA:1465 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0002884 ORPHA:1465 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1465 Coffin-Siris syndrome HP:0002895 ORPHA:1465 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0000765 ORPHA:1461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0000961 ORPHA:1461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0001629 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0001633 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0001642 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0001669 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0001718 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0001999 ORPHA:1461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0002093 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0030680 ORPHA:1461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0004381 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0010446 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1461 Criss-cross heart HP:0011968 ORPHA:1461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001249 ORPHA:324262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001347 ORPHA:324262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0002066 ORPHA:324262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0003698 ORPHA:324262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0000565 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0000571 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001310 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0002075 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0002167 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0002406 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0004302 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0011347 ORPHA:324262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0000508 ORPHA:324262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001250 ORPHA:324262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001271 ORPHA:324262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001344 ORPHA:324262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0007979 ORPHA:324262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000408 ORPHA:2791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000670 ORPHA:2791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0006479 ORPHA:2791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0011070 ORPHA:2791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0011078 ORPHA:2791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000212 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000276 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000293 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000326 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000343 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000463 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000679 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000682 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000684 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000704 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0001757 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0003771 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0011051 ORPHA:2791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000480 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000482 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000518 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000568 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0000612 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0011068 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0031353 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2791 Otodental syndrome HP:0100719 ORPHA:2791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0000218 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0000293 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0000324 ORPHA:2792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0000400 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0000405 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0000411 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0000413 ORPHA:2792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0000463 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0000889 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0001249 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0001263 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0001276 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0001347 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0002167 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0002750 ORPHA:2792 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0003691 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0004322 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0004467 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0005280 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0007477 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0008678 ORPHA:2792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0009738 ORPHA:2792 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2792 Otofaciocervical syndrome HP:0200021 ORPHA:2792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0000268 ORPHA:2793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0000400 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0000582 ORPHA:2793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0000940 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0001256 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0001371 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0001597 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0006380 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0008577 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0009738 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0009756 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0009906 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2793 Otoonychoperoneal syndrome HP:0011039 ORPHA:2793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0012119 ORPHA:464453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0000739 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0000961 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0001289 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0001941 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0001962 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0002013 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0002094 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0002315 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0002321 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0012378 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0012418 ORPHA:464453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0001259 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0001279 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0001649 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0002027 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0002329 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0007185 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0011675 ORPHA:464453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0001250 ORPHA:464453 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464453 Acquired methemoglobinemia HP:0002098 ORPHA:464453 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000147 ORPHA:2795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000795 ORPHA:2795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0003457 ORPHA:2795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0100518 ORPHA:2795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000016 ORPHA:2795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000876 ORPHA:2795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0001007 ORPHA:2795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0001061 ORPHA:2795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000020 ORPHA:2795 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000132 ORPHA:2795 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000137 ORPHA:2795 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2795 Fowler urethral sphincter dysfunction syndrome HP:0000141 ORPHA:2795 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0000280 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0000508 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0000771 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0000845 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0000939 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0000969 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0000975 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0000976 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0000982 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0001051 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0001061 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0001072 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0001231 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0001369 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0001376 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0001386 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0001744 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0001903 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0002024 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0002239 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0002240 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0002650 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0002653 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0002754 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0002797 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0002829 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0002970 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0003103 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0004398 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0005561 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0005930 ORPHA:2796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0008069 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0010541 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0010720 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0010829 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0010885 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0011362 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0100021 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0100526 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0100760 ORPHA:2796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2796 Pachydermoperiostosis HP:0200055 ORPHA:2796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2798 Pachygyria-intellectual disability-epilepsy syndrome HP:0001250 ORPHA:2798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2798 Pachygyria-intellectual disability-epilepsy syndrome HP:0001263 ORPHA:2798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2798 Pachygyria-intellectual disability-epilepsy syndrome HP:0001622 ORPHA:2798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2798 Pachygyria-intellectual disability-epilepsy syndrome HP:0010864 ORPHA:2798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0000708 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001263 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001319 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001513 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001558 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001773 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001999 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0002591 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0004322 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0008872 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0200055 ORPHA:177910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0004039 ORPHA:177910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0004283 ORPHA:177910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0000044 ORPHA:177910 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0001010 ORPHA:177910 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0003241 ORPHA:177910 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0005599 ORPHA:177910 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:177910 Prader-Willi syndrome due to imprinting mutation HP:0007730 ORPHA:177910 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0010818 ORPHA:505652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0000232 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0000337 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0000490 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0000748 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0000817 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0001288 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0001510 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0002002 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0002194 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0002355 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0002421 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0003763 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0003808 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0006979 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0007328 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0007359 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0009852 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0010841 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0011220 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0011343 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0011344 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0012171 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0012469 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0012471 ORPHA:505652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0000341 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0000348 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0000664 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0001822 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0002650 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0002795 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505652 CDKL5-deficiency disorder HP:0002808 ORPHA:505652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000253 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001118 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001249 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001250 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001263 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001285 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001510 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001999 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0004322 ORPHA:438178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000219 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000316 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000319 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000343 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000400 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0000508 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001272 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0001305 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0002540 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0002553 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0003196 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0003698 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency HP:0005280 ORPHA:438178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000939 ORPHA:2788 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002659 ORPHA:2788 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000541 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000938 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0001141 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0001388 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002515 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0003016 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0004327 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0006367 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002505 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0007875 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0007898 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0007957 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0008947 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0012052 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0012109 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0030490 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0040069 ORPHA:2788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000568 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000750 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0001263 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002007 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002194 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0002645 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0003366 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0004322 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0006934 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0030551 ORPHA:2788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000384 ORPHA:2788 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0000592 ORPHA:2788 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0008236 ORPHA:2788 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0030515 ORPHA:2788 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2788 Osteoporosis-pseudoglioma syndrome HP:0030680 ORPHA:2788 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1455 Autosomal dominant coarctation of aorta HP:0001629 ORPHA:1455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1455 Autosomal dominant coarctation of aorta HP:0001643 ORPHA:1455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1455 Autosomal dominant coarctation of aorta HP:0004383 ORPHA:1455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1455 Autosomal dominant coarctation of aorta HP:0005113 ORPHA:1455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1455 Autosomal dominant coarctation of aorta HP:0012303 ORPHA:1455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000268 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000272 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000275 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000347 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000358 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000369 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000405 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000413 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000494 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000508 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0002435 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0002645 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0002705 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0100775 ORPHA:2789 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000023 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000319 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000470 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000678 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000767 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0001537 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0002162 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0002650 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0003312 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0004452 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0004493 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0005487 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0005692 ORPHA:2789 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000028 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000218 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000286 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000316 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000407 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000520 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0000612 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0001252 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0001263 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0001629 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0002308 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0002808 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0003307 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2789 Lateral meningocele syndrome HP:0003396 ORPHA:2789 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000003 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000023 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000083 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000112 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000202 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000238 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000256 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000276 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000369 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000426 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000463 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000486 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000505 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000508 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000567 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000588 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000612 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000639 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000657 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0000864 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001162 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001250 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001251 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001252 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001288 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001320 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001337 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001347 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001394 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001409 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0001744 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002085 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002104 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002240 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002269 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002342 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002553 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002612 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002650 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002793 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002896 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0002910 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0004422 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0005248 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0007360 ORPHA:1454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0007370 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0008872 ORPHA:1454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1454 Joubert syndrome with hepatic defect HP:0100626 ORPHA:1454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1453 Cleidorhizomelic syndrome HP:0000889 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1453 Cleidorhizomelic syndrome HP:0001156 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1453 Cleidorhizomelic syndrome HP:0004209 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1453 Cleidorhizomelic syndrome HP:0004220 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1453 Cleidorhizomelic syndrome HP:0005019 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1453 Cleidorhizomelic syndrome HP:0007598 ORPHA:1453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1453 Cleidorhizomelic syndrome HP:0008905 ORPHA:1453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000162 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000164 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000175 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000239 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000246 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000248 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000256 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000303 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000316 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000337 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000340 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000347 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000364 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000365 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000389 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000670 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000682 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000684 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000772 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000774 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000882 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000894 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0000939 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0001156 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0005916 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0001172 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0001182 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0001810 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0002007 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0002205 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0002644 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0002645 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0002650 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0002652 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0002705 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0002757 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0002812 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0002857 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0003298 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0004209 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0004322 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0004331 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0005107 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0005280 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0005930 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0008391 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0008821 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0010535 ORPHA:1452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0010669 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0010751 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0010807 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0011069 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0011219 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0011800 ORPHA:1452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1452 Cleidocranial dysplasia HP:0200021 ORPHA:1452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0000256 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0000365 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0000407 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0000505 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0000520 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0000538 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0000554 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0000618 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0000969 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0000979 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001025 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001156 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001249 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001263 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001287 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001367 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001373 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001476 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001510 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001622 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001744 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001872 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001874 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001903 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001911 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001945 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0001974 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0002007 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0002017 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0002076 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0002240 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0002353 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0002516 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0002652 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0002716 ORPHA:1451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0002829 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0003326 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0003565 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0004349 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0011227 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0012378 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0100533 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0100654 ORPHA:1451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1451 CINCA syndrome HP:0200034 ORPHA:1451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0000069 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0000126 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0000174 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0000286 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0000340 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0000348 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0000463 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0001249 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0001561 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0002007 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0002162 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0003196 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0004097 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1450 Ring chromosome 8 syndrome HP:0100830 ORPHA:1450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0001263 ORPHA:79350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0002342 ORPHA:79350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0008897 ORPHA:79350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0011968 ORPHA:79350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0012279 ORPHA:79350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000047 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000154 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000252 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000293 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000337 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000341 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000347 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0001276 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0001999 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0002020 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0002069 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0100540 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0100633 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000944 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002684 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0005465 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0008808 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0008818 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0011001 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0011002 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0100670 ORPHA:2780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000175 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000176 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000193 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000239 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000256 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000270 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000405 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000431 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000684 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002007 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002650 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002705 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0005469 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0011220 ORPHA:2780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000248 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000278 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000286 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000347 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000358 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000369 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0000518 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001249 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001263 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001328 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001555 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001650 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0001680 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002300 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002381 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002381 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0002514 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0003298 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0003307 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0003510 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0010529 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0010628 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome HP:0012368 ORPHA:2780 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0012277 ORPHA:79351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0012279 ORPHA:79351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000252 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000565 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001257 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001508 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001511 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002013 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0004322 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0006808 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0007281 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0011097 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0011344 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0011451 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0011968 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0012448 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0012762 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000023 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000135 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000519 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000708 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000737 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001181 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001276 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0006872 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001537 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001889 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0001999 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002020 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002069 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002079 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002119 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002121 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002123 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002305 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002510 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0002536 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0007503 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0010719 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0010819 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0010821 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0011343 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0030215 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0100633 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0100704 ORPHA:79351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464440 Primary dystonia, DYT27 type HP:0012048 ORPHA:464440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464440 Primary dystonia, DYT27 type HP:0012049 ORPHA:464440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464440 Primary dystonia, DYT27 type HP:0002345 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464440 Primary dystonia, DYT27 type HP:0002356 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464440 Primary dystonia, DYT27 type HP:0002451 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464440 Primary dystonia, DYT27 type HP:0002530 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464440 Primary dystonia, DYT27 type HP:0004373 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464440 Primary dystonia, DYT27 type HP:0007351 ORPHA:464440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001513 ORPHA:177907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001612 ORPHA:177907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002033 ORPHA:177907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0008872 ORPHA:177907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000044 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000219 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000341 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000824 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001256 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001319 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001773 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001999 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002098 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002205 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002714 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0003241 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0004322 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0006829 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0007874 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0010627 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0025160 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0200055 ORPHA:177907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000077 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000154 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000175 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000193 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000218 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000232 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000252 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000278 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000316 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000347 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000384 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000446 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000448 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000455 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000463 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000470 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000486 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000490 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000520 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000540 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000545 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000582 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000601 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000670 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000708 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000722 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000733 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000735 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000739 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000750 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000953 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001010 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001156 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001250 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001263 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001265 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001344 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001347 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001511 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001562 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001611 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001627 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001643 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001655 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001763 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001776 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0001845 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002120 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0002650 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0003196 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0004209 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0005469 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0005599 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0006347 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0006956 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0007018 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0007730 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0009085 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0010801 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0010864 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0011470 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0012166 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0012168 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0012433 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0012704 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0012775 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0030084 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0040025 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0040082 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0100704 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0200096 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001947 ORPHA:2785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0011002 ORPHA:2785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0012379 ORPHA:2785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000164 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001293 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001999 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002049 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002135 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002514 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002757 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002901 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0003148 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0003236 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0004322 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0008341 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001263 ORPHA:2785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000126 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000160 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000179 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000218 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000248 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000278 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000347 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000400 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000479 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000592 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000648 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000692 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000767 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000787 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000867 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001105 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001249 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001328 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001357 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001508 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001562 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001873 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001876 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001882 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001903 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002240 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002518 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002684 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0004445 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0005461 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0005528 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0006335 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0006641 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0006824 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0010864 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0011220 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0012370 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0030812 ORPHA:2785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0000405 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0001942 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002092 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002273 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0002870 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2785 Osteopetrosis with renal tubular acidosis HP:0012181 ORPHA:2785 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000072 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000286 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000396 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000407 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000463 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000486 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000508 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000518 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000639 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000682 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0000684 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0001156 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0001252 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0001263 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0001374 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0001600 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0001629 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0002644 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0002650 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0002750 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0003196 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0003312 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0003417 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0004122 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0004322 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0005242 ORPHA:1458 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0005280 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0005692 ORPHA:1458 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0005930 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0006482 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0009901 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0010049 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1458 CODAS syndrome HP:0012368 ORPHA:1458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79357 Hereditary palmoplantar keratoderma HP:0000982 ORPHA:79357 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79357 Hereditary palmoplantar keratoderma HP:0009775 ORPHA:79357 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000479 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000505 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000545 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000639 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000926 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000939 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000980 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0001010 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0001022 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0002808 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0004322 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0005599 ORPHA:2786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0000252 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0000618 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0000648 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0000939 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0001156 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0001249 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0002007 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0002645 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0005692 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0009882 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79358 Porokeratosis HP:0000962 ORPHA:79358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79358 Porokeratosis HP:0000989 ORPHA:79358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79358 Porokeratosis HP:0000992 ORPHA:79358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79358 Porokeratosis HP:0001000 ORPHA:79358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79358 Porokeratosis HP:0004334 ORPHA:79358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79358 Porokeratosis HP:0006739 ORPHA:79358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0012305 ORPHA:1457 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0011103 ORPHA:1457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0001640 ORPHA:1457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0001647 ORPHA:1457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0001677 ORPHA:1457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0004383 ORPHA:1457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0000822 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0001635 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0001643 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0005301 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0011682 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0012304 ORPHA:1457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0001297 ORPHA:1457 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0001636 ORPHA:1457 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0002092 ORPHA:1457 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0010883 ORPHA:1457 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0005295 ORPHA:1457 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1457 Aorta coarctation HP:0011611 ORPHA:1457 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0000118 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0000837 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0008669 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0008734 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0011961 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0012205 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0012864 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399808 Male infertility with teratozoospermia due to single gene mutation HP:0012868 ORPHA:399808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0004348 ORPHA:210110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0002659 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0002757 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0003418 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0004618 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0004975 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0005652 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0005746 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0005789 ORPHA:210110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0000707 ORPHA:210110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0001903 ORPHA:210110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0003155 ORPHA:210110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0000164 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0000505 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0000689 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0001293 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0001433 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0002754 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0006482 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0007958 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0031035 ORPHA:210110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0001873 ORPHA:210110 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:210110 Intermediate osteopetrosis HP:0002901 ORPHA:210110 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000219 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000232 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000272 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000316 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000343 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000347 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000369 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000445 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000664 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000924 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0001007 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0001252 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0001256 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0001263 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0001999 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0003022 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0004325 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0005469 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0008551 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0009928 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0030084 ORPHA:357175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000337 ORPHA:357175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000494 ORPHA:357175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0002342 ORPHA:357175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0010864 ORPHA:357175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2777 Osteomesopyknosis HP:0001939 ORPHA:2777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2777 Osteomesopyknosis HP:0002650 ORPHA:2777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2777 Osteomesopyknosis HP:0002808 ORPHA:2777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2777 Osteomesopyknosis HP:0003103 ORPHA:2777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2777 Osteomesopyknosis HP:0003312 ORPHA:2777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2777 Osteomesopyknosis HP:0011001 ORPHA:2777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2777 Osteomesopyknosis HP:0100861 ORPHA:2777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0001999 ORPHA:1445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0000141 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0000252 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0000789 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0001249 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0001250 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0002353 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0001263 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0000027 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0000750 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0000765 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0000873 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0000992 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0001159 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0001257 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0001288 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0001360 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0001627 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0002123 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0002650 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0004283 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0004313 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0004322 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0007565 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0008467 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0011171 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0025190 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0030039 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0030084 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1445 Ring chromosome 21 syndrome HP:0200055 ORPHA:1445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0000940 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0000944 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0002211 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0002644 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0007412 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0010740 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0100670 ORPHA:2779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000294 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000455 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000463 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000506 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000629 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000817 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0001249 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002079 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002465 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0010818 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0010841 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0012105 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0012110 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0100704 ORPHA:411986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000232 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000322 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000341 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000414 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000426 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000527 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000528 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000574 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000664 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000733 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0001252 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0001336 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002121 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002384 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002521 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0002540 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0009748 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0009904 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0010819 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0012469 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0012471 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0040159 ORPHA:411986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0000238 ORPHA:2770 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0000657 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0000708 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0000727 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0000734 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0000737 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0000751 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0001250 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0001257 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0001376 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002072 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002119 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002120 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002167 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002354 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002376 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002488 ORPHA:2770 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002514 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002652 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002653 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0002829 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0004349 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0005930 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0009124 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0010524 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0012062 ORPHA:2770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0012719 ORPHA:2770 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2770 Nasu-Hakola disease HP:0100022 ORPHA:2770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0000325 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0000926 ORPHA:2771 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0000939 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0001059 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0001387 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0001762 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0002093 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0002645 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0002650 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0002757 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0002804 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0002808 ORPHA:2771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0004322 ORPHA:2771 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2771 Bruck syndrome HP:0006487 ORPHA:2771 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000028 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000062 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000252 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000316 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000368 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000518 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000592 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000772 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0001195 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0001511 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0001629 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0002119 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0002269 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0002757 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0002983 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0004383 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0005474 ORPHA:2772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0005692 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0007360 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0008736 ORPHA:2772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0008873 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0000478 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0000504 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0000648 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0001249 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0001250 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0002645 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0002757 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0011344 ORPHA:2773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000047 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000135 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000160 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000233 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000248 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000252 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000271 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000272 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000286 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000294 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000322 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000385 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000426 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000431 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000494 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000601 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000932 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0001270 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0001488 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0002120 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0002553 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0004322 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0004425 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0007687 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0008846 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0009088 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0009899 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0011344 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0012368 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0001000 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0001238 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0002119 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0003196 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0009933 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0030148 ORPHA:1449 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000034 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000175 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000303 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000329 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000463 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000486 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000565 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000954 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000957 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0001317 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0002857 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0002861 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0004619 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0007481 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0200055 ORPHA:1449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000193 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0001357 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0001360 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0001696 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0004209 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0009099 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0009237 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1449 Ring chromosome 7 syndrome HP:0009779 ORPHA:1449 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0000252 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0000286 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0000316 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0000400 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0000431 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0000470 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0002093 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0002162 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0004322 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0009882 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1448 Ring chromosome 6 syndrome HP:0100589 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000093 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000112 ORPHA:2774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000325 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000347 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000431 ORPHA:2774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000506 ORPHA:2774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000520 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001225 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001288 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001376 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001495 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001504 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0001561 ORPHA:2774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0002714 ORPHA:2774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0002797 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0003019 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0003100 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0003457 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0004326 ORPHA:2774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0005930 ORPHA:2774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0100490 ORPHA:2774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1447 Ring chromosome 4 syndrome HP:0001171 ORPHA:1447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1447 Ring chromosome 4 syndrome HP:0002817 ORPHA:1447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1447 Ring chromosome 4 syndrome HP:0040071 ORPHA:1447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1447 Ring chromosome 4 syndrome HP:0006501 ORPHA:1447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0000164 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0000327 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0000455 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0000520 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0001256 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0002797 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0004322 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0009882 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2776 Autosomal recessive distal osteolysis syndrome HP:0011800 ORPHA:2776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000027 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000252 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000268 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000276 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000286 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000293 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000307 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000400 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000414 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000574 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000719 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000729 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000750 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000969 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0001004 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0001067 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0001176 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0001250 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0001263 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0001290 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0001510 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0002066 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0002376 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0004691 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0007328 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0010808 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0011800 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0012471 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0012810 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0100797 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0001274 ORPHA:1446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0001331 ORPHA:1446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1446 Ring chromosome 22 syndrome HP:0002202 ORPHA:1446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0000028 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0000077 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0000256 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0000316 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0000356 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0000750 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0000924 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0001263 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0001270 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0001627 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314034 7p22.1 microduplication syndrome HP:0001999 ORPHA:314034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000219 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000028 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000252 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000303 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0001250 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0001252 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0001999 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0002020 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0002719 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0008850 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000047 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000407 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000411 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000678 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000954 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0001182 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0001601 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0004415 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0006101 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0006380 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0006466 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0009796 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0012033 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0012385 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0100716 ORPHA:435938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46487 Epidermolysis bullosa acquisita HP:0000819 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46487 Epidermolysis bullosa acquisita HP:0000953 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46487 Epidermolysis bullosa acquisita HP:0000987 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46487 Epidermolysis bullosa acquisita HP:0000989 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46487 Epidermolysis bullosa acquisita HP:0001056 ORPHA:46487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46487 Epidermolysis bullosa acquisita HP:0001595 ORPHA:46487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46487 Epidermolysis bullosa acquisita HP:0002027 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46487 Epidermolysis bullosa acquisita HP:0002037 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46487 Epidermolysis bullosa acquisita HP:0008066 ORPHA:46487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46487 Epidermolysis bullosa acquisita HP:0008404 ORPHA:46487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0001249 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0001410 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0001999 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0002079 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0002361 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0002506 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0002510 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0003256 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0005484 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0010818 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0010837 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0011967 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435934 COG2-CDG HP:0012506 ORPHA:435934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46488 Linear IgA dermatosis HP:0000155 ORPHA:46488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46488 Linear IgA dermatosis HP:0000421 ORPHA:46488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46488 Linear IgA dermatosis HP:0000989 ORPHA:46488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46488 Linear IgA dermatosis HP:0002037 ORPHA:46488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46488 Linear IgA dermatosis HP:0002960 ORPHA:46488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46488 Linear IgA dermatosis HP:0008066 ORPHA:46488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46488 Linear IgA dermatosis HP:0009725 ORPHA:46488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46488 Linear IgA dermatosis HP:0009726 ORPHA:46488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46488 Linear IgA dermatosis HP:0200034 ORPHA:46488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46486 Mucous membrane pemphigoid HP:0000230 ORPHA:46486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46486 Mucous membrane pemphigoid HP:0000618 ORPHA:46486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46486 Mucous membrane pemphigoid HP:0000987 ORPHA:46486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46486 Mucous membrane pemphigoid HP:0002960 ORPHA:46486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46486 Mucous membrane pemphigoid HP:0007957 ORPHA:46486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46486 Mucous membrane pemphigoid HP:0008066 ORPHA:46486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46486 Mucous membrane pemphigoid HP:0200097 ORPHA:46486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0000505 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0001231 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0002213 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0002558 ORPHA:1433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0006101 ORPHA:1433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0007703 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0008070 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0008388 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0100804 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1433 Choroidal atrophy-alopecia syndrome HP:0200102 ORPHA:1433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2768 Blount disease HP:0002982 ORPHA:2768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2768 Blount disease HP:0002815 ORPHA:2768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2768 Blount disease HP:0006491 ORPHA:2768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2768 Blount disease HP:0010591 ORPHA:2768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2768 Blount disease HP:0040188 ORPHA:2768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000272 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000303 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000307 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000309 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000363 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000414 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000448 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000457 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000574 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000692 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000822 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0002149 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0002650 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0002659 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0002757 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0002808 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0003103 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0003189 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0005613 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0006352 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0006660 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0009748 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0010443 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0010668 ORPHA:2769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000670 ORPHA:2769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000772 ORPHA:2769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0000921 ORPHA:2769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0003312 ORPHA:2769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0004209 ORPHA:2769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0001250 ORPHA:2769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2769 Familial osteodysplasia, Anderson type HP:0003042 ORPHA:2769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0008207 ORPHA:95409 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0008163 ORPHA:95409 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0000953 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001324 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001508 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001824 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002014 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002017 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002019 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002027 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002039 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002615 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002960 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0003154 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0011106 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0012378 ORPHA:95409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0000083 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0000127 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0000848 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001250 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001252 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001278 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001897 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001943 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002149 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002153 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002902 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0004319 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0005976 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0008226 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0011948 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0012364 ORPHA:95409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0000823 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0000835 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0000958 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001045 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001297 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0001658 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002215 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002321 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0002829 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0003072 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0030018 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95409 Acute adrenal insufficiency HP:0030083 ORPHA:95409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2760 OSLAM syndrome HP:0000670 ORPHA:2760 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2760 OSLAM syndrome HP:0001874 ORPHA:2760 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2760 OSLAM syndrome HP:0002669 ORPHA:2760 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2760 OSLAM syndrome HP:0002974 ORPHA:2760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2760 OSLAM syndrome HP:0004209 ORPHA:2760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2760 OSLAM syndrome HP:0004322 ORPHA:2760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2760 OSLAM syndrome HP:0005518 ORPHA:2760 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0001263 ORPHA:1439 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0001510 ORPHA:1439 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0001999 ORPHA:1439 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0000252 ORPHA:1439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0007477 ORPHA:1439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0030084 ORPHA:1439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0000028 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0000131 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0000369 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0000465 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0000565 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0000767 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0000807 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0000821 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0001007 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0001028 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0001061 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0001159 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0001518 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0001684 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0001810 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0002705 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0002938 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0003187 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0004207 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0008551 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1439 Ring chromosome 12 syndrome HP:0009656 ORPHA:1439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0000233 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0000316 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0000343 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0000347 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0000369 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0000431 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0000470 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0000494 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0000568 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0000767 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0001182 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0001249 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0001250 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0001252 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0001511 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0001852 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0002007 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0002251 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0002901 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0004326 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0006610 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0008678 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0009738 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1438 Ring chromosome 10 syndrome HP:0009748 ORPHA:1438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0000828 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0001034 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0001156 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0001376 ORPHA:2762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0001482 ORPHA:2762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0002653 ORPHA:2762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0002758 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0010766 ORPHA:2762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0011987 ORPHA:2762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0012733 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0100242 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2762 Progressive osseous heteroplasia HP:0200034 ORPHA:2762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0000252 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0000311 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0000343 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0000431 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0000463 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0000494 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0000506 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0000508 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0002714 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0004209 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0008872 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0010720 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1437 Ring chromosome 1 syndrome HP:0100543 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0000027 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0000118 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0000837 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0008669 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0008734 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0011961 ORPHA:399805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0011962 ORPHA:399805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0001156 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0002023 ORPHA:1436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0002650 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0002949 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0004322 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0005107 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0005819 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0005978 ORPHA:1436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1436 X-linked skeletal dysplasia-intellectual disability syndrome HP:0008467 ORPHA:1436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0001376 ORPHA:2764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0001386 ORPHA:2764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0001387 ORPHA:2764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0002815 ORPHA:2764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0002829 ORPHA:2764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0001367 ORPHA:2764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0001377 ORPHA:2764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0003184 ORPHA:2764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0006376 ORPHA:2764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0011843 ORPHA:2764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0001288 ORPHA:2764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0002992 ORPHA:2764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2764 Osteochondritis dissecans HP:0009050 ORPHA:2764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000407 ORPHA:1435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000532 ORPHA:1435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0001139 ORPHA:1435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0200065 ORPHA:1435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000375 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000381 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000405 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000648 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000824 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000830 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0001251 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0001256 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0001263 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0001347 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0001510 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0001513 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0002066 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0002750 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0004458 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0005109 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0007663 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0007675 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0007937 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0007994 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0008245 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0008619 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0008897 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0011448 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0030532 ORPHA:1435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000486 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000639 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000822 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0001250 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0001920 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0002075 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0003484 ORPHA:1435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0000863 ORPHA:1435 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0010625 ORPHA:1435 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1435 Xq21 microdeletion syndrome HP:0011748 ORPHA:1435 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0001409 ORPHA:210136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0001433 ORPHA:210136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0002206 ORPHA:210136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0005528 ORPHA:210136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0011954 ORPHA:210136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0001873 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0002094 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0002091 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0002910 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0003281 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0006707 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0012735 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0030830 ORPHA:210136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0001685 ORPHA:210136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0002103 ORPHA:210136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0030829 ORPHA:210136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30925 Hereditary central diabetes insipidus HP:0000737 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30925 Hereditary central diabetes insipidus HP:0000873 ORPHA:30925 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:30925 Hereditary central diabetes insipidus HP:0001254 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30925 Hereditary central diabetes insipidus HP:0001510 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30925 Hereditary central diabetes insipidus HP:0001824 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30925 Hereditary central diabetes insipidus HP:0001945 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30925 Hereditary central diabetes insipidus HP:0001959 ORPHA:30925 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:30925 Hereditary central diabetes insipidus HP:0002013 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30925 Hereditary central diabetes insipidus HP:0002014 ORPHA:30925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0000774 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0003026 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0003950 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0005616 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0005789 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0009826 ORPHA:1423 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0000347 ORPHA:1423 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0001561 ORPHA:1423 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0000158 ORPHA:1423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0000969 ORPHA:1423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0002098 ORPHA:1423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1423 Lethal recessive chondrodysplasia HP:0002983 ORPHA:1423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000037 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000252 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000400 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000486 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000490 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000506 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000567 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000581 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000616 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000774 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0001249 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0006872 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0001511 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0002644 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0002983 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0003043 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0003510 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0004330 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0005622 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0007676 ORPHA:1422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0009803 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0010049 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000185 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000191 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000278 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000343 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000347 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000470 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0000506 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0001440 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0001831 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0002990 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0004987 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0005011 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0005280 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0005736 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0005873 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0006114 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0006434 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0008368 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0008386 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0009280 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0009486 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0009942 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0012165 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0012368 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0012428 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2756 Orofaciodigital syndrome type 10 HP:0100258 ORPHA:2756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000478 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000601 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001508 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001510 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002033 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0004322 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0011968 ORPHA:220386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000161 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000175 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000193 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000218 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000252 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000407 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000457 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000708 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000716 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000737 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000739 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000741 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001249 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001250 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001254 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001257 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001328 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001344 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002013 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002015 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002019 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002020 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002270 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002363 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002451 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002540 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002793 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002871 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0005968 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0006528 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0006979 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0007018 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0007301 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0008947 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0010654 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0011442 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0011951 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0012285 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0040327 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0045005 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0100704 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000119 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000238 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000256 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000818 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000824 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000871 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000873 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0000924 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001274 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001371 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0001627 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002465 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002650 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0002827 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0006315 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0009062 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0009914 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0009932 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0011471 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0011787 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0012718 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0012806 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0031860 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220386 Semilobar holoprosencephaly HP:0040064 ORPHA:220386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000153 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000159 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000288 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000358 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000369 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000600 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000772 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000921 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0002094 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0002098 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0002205 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0002878 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0002937 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0003312 ORPHA:2759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000286 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000396 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000431 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000453 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0000494 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0001166 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0001561 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0001622 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0004209 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0005692 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0009896 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0010295 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome HP:0011302 ORPHA:2759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36237 Bullous impetigo HP:0003095 ORPHA:36237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36237 Bullous impetigo HP:0005406 ORPHA:36237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36237 Bullous impetigo HP:0008066 ORPHA:36237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36237 Bullous impetigo HP:0010783 ORPHA:36237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36237 Bullous impetigo HP:0100763 ORPHA:36237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36237 Bullous impetigo HP:0100806 ORPHA:36237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36237 Bullous impetigo HP:0100820 ORPHA:36237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36237 Bullous impetigo HP:0200039 ORPHA:36237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0012418 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0031246 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0031864 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0032177 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0032308 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0100749 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0001254 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0001289 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0001882 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002105 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002107 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002113 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002721 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0025144 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0025419 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0025439 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0031273 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0032016 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0100758 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0100806 ORPHA:36238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0000819 ORPHA:36238 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0030955 ORPHA:36238 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0001945 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0001974 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002090 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002094 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002098 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002789 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0003565 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0012735 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0032169 ORPHA:36238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002202 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002615 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0002878 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0011227 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0011897 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0011919 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36238 Staphylococcal necrotizing pneumonia HP:0011949 ORPHA:36238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1429 Benign hereditary chorea HP:0001288 ORPHA:1429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1429 Benign hereditary chorea HP:0100022 ORPHA:1429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000161 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000180 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000187 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000191 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000218 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000271 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000316 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000431 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0002007 ORPHA:2750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000164 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000175 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000199 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000324 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000430 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000494 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000668 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000929 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001161 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001249 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001250 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001251 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001829 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001831 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0004097 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0004209 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0004349 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0006101 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0010579 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0011802 ORPHA:2750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000003 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000083 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000093 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000126 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000286 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000347 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000365 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000389 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000453 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000506 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000682 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000822 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000924 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0000958 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001056 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001156 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001162 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001177 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001274 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001305 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001332 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001337 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001596 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001732 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001737 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0001738 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0002208 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0002299 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0002617 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0002910 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0008070 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0008368 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0010669 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0010807 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0100267 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2750 Orofaciodigital syndrome type 1 HP:0100612 ORPHA:2750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0002104 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0002789 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0004987 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0005349 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0005873 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0006342 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0005736 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0006695 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0007768 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0008947 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0009826 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0010230 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0011087 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0030680 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0100702 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0100874 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0410033 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000050 ORPHA:2751 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000695 ORPHA:2751 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0002069 ORPHA:2751 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0009776 ORPHA:2751 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000175 ORPHA:2751 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000161 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000190 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000199 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000218 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000431 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000685 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0001841 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0004322 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0006042 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0006101 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0006289 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0010055 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0010068 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0010100 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0010297 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0011802 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0011819 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0040019 ORPHA:2751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000220 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000347 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000405 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000411 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000506 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0000679 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0001161 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0001162 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2751 Orofaciodigital syndrome type 2 HP:0001263 ORPHA:2751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000407 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000463 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0001367 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0003468 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0003498 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0005280 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0011800 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0040163 ORPHA:1427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000175 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000193 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000347 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0001156 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0002656 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0006375 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0009826 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0011314 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0011867 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0012368 ORPHA:1427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000162 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000358 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000470 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000520 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000926 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0001376 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0001561 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0001852 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0002758 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0002834 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0002938 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0002982 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0003037 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0003417 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0009803 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0010049 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0010502 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0100569 ORPHA:1427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000486 ORPHA:1427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000540 ORPHA:1427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0025573 ORPHA:1427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000518 ORPHA:1427 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0000541 ORPHA:1427 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0007964 ORPHA:1427 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1427 Otospondylomegaepiphyseal dysplasia HP:0011003 ORPHA:1427 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0000347 ORPHA:1426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0000774 ORPHA:1426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0000926 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0001004 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0001156 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0001362 ORPHA:1426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0001881 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0002983 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0003312 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0004331 ORPHA:1426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0006619 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0008890 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0008905 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0009106 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0011800 ORPHA:1426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0011849 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1426 Greenberg dysplasia HP:0100569 ORPHA:1426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000164 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000180 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000193 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000316 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000369 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000414 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000577 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000657 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000767 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0000879 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001162 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001257 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001305 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001320 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001336 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001830 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0002942 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0003774 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0010864 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0011168 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0011802 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0012489 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0012547 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0040079 ORPHA:2752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0010729 ORPHA:2752 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0012044 ORPHA:2752 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0001626 ORPHA:2752 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0010719 ORPHA:2752 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2752 Orofaciodigital syndrome type 3 HP:0011842 ORPHA:2752 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002615 ORPHA:36234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0031273 ORPHA:36234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0032169 ORPHA:36234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0001289 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0001581 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0001649 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0001942 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0001945 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002027 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002098 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002151 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0003326 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0011799 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0012531 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0100537 ORPHA:36234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0000083 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0000099 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0000246 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0000988 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0001287 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0001369 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0001873 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002013 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002014 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002018 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002090 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002383 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002586 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002754 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002789 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002814 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002817 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0002901 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0003073 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0003095 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0003236 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0003259 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0005521 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0008066 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0011355 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0011947 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0012115 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0012819 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0025143 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0025439 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0025615 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0030005 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0031364 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0031691 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0031864 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0032170 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0032237 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0032238 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0032675 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0040189 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0100614 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0100658 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0100806 ORPHA:36234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0000010 ORPHA:36234 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36234 Bacterial toxic-shock syndrome HP:0000969 ORPHA:36234 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0000368 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0000463 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0000470 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0000499 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0000501 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0000520 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0000592 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0000944 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0008070 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0001249 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0001591 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0001629 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0002650 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0002673 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0002812 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0002816 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0002974 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0002999 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0003042 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0003366 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0003510 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0004209 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0005280 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0005616 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0005692 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0008873 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0010318 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0100490 ORPHA:1425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1425 Desbuquois syndrome HP:0200055 ORPHA:1425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000157 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000161 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000168 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000190 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000202 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000252 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000278 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000316 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000347 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000356 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000358 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000369 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000405 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000445 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000453 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000457 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000496 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001162 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001177 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001249 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001263 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001328 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001367 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001373 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001511 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001562 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001601 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002205 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002970 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002983 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0003196 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0003510 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0005772 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0006101 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0008734 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0009118 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0010285 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0010469 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0010566 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0011267 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0011830 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0030868 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000175 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000176 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000193 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000520 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001171 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001508 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001510 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002120 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002705 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0011968 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0012157 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0100308 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0100490 ORPHA:2753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000104 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000143 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000322 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000598 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0001800 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002023 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0002089 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0004871 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0005944 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0008207 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0008678 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0011255 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0025023 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0030680 ORPHA:2753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000175 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000180 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000190 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000199 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000218 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000276 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000316 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000347 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000368 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000405 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000455 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000565 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000639 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001156 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001159 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001249 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001251 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001252 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001263 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001288 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001290 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001508 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001510 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002007 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002419 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0004322 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0004422 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0007036 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000286 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0008689 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0008872 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0011802 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0040019 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0100258 ORPHA:2754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000104 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0000426 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001161 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001250 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001320 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001337 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001627 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0001829 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002104 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002269 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002444 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002553 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0002876 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0006145 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0007370 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0008678 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0009084 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2754 Orofaciodigital syndrome type 6 HP:0100260 ORPHA:2754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0000126 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001195 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001629 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001631 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001636 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001643 ORPHA:210122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001647 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001650 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001734 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0001746 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002023 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002092 ORPHA:210122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002098 ORPHA:210122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002251 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002566 ORPHA:210122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002575 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0002580 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0003468 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0004383 ORPHA:210122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0006695 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0010882 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0011467 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210122 Congenital alveolar capillary dysplasia HP:0100867 ORPHA:210122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0000444 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0000670 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0000962 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0001034 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0001595 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0001798 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0002293 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0004404 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0007471 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0007502 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0030503 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0040211 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69125 Anonychia with flexural pigmentation HP:0100872 ORPHA:69125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0001251 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0001260 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0002066 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0002078 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0002136 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0002345 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0002719 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0006801 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0007979 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0010904 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210128 Urocanic aciduria HP:0012237 ORPHA:210128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0000093 ORPHA:69126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0001061 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0001369 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0001376 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0001945 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0002716 ORPHA:69126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0002829 ORPHA:69126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0010702 ORPHA:69126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0012378 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0012649 ORPHA:69126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0100280 ORPHA:69126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0100614 ORPHA:69126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0100651 ORPHA:69126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0200039 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0200042 ORPHA:69126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0000407 ORPHA:2744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0000470 ORPHA:2744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0000639 ORPHA:2744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0001250 ORPHA:2744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0002650 ORPHA:2744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0002808 ORPHA:2744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0007817 ORPHA:2744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2744 Horizontal gaze palsy with progressive scoliosis HP:0100543 ORPHA:2744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1412 Tarsal-carpal coalition syndrome HP:0003028 ORPHA:1412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1412 Tarsal-carpal coalition syndrome HP:0004322 ORPHA:1412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1412 Tarsal-carpal coalition syndrome HP:0008368 ORPHA:1412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000348 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000455 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000508 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000537 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0002007 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0005280 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0005453 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0009119 ORPHA:488437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000256 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000260 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000316 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000358 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0001511 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0001518 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0002693 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0004322 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0005494 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0010291 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0011330 ORPHA:488437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000077 ORPHA:488437 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0000820 ORPHA:488437 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:488437 SIX2-related frontonasal dysplasia HP:0001263 ORPHA:488437 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000316 ORPHA:2745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000343 ORPHA:2745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000431 ORPHA:2745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0011220 ORPHA:2745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000047 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000175 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000349 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000463 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000506 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000508 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000736 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001249 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001273 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001328 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001999 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0002119 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0004322 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0008751 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0012758 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0410030 ORPHA:2745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000023 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000028 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000048 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000049 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000076 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000079 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000119 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000126 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000218 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000239 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000252 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000347 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000358 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000365 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000369 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000494 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000729 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000776 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001274 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001305 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001363 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001537 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001539 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001627 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001629 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001631 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001643 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001655 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0001680 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0002015 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0002023 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0002079 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0002100 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0002465 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0002575 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0002616 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0004397 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0004467 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0005301 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0005487 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0006817 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0008872 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0010307 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0012443 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0031936 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0100879 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000486 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000539 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000668 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000695 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0000813 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0002779 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0003422 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0010296 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2745 Opitz GBBB syndrome HP:0010518 ORPHA:2745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0000239 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0000256 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0000592 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0000767 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0000774 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0000944 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0001156 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0001182 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0001252 ORPHA:2746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0001387 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0001744 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0002007 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0002093 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0002205 ORPHA:2746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0002240 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0002750 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0003173 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0003175 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0003177 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0003196 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0003510 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0005280 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0005469 ORPHA:2746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0005930 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0008479 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0011304 ORPHA:2746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2746 Opsismodysplasia HP:0100569 ORPHA:2746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1410 Uncombable hair syndrome HP:0001595 ORPHA:1410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1410 Uncombable hair syndrome HP:0002208 ORPHA:1410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1410 Uncombable hair syndrome HP:0002224 ORPHA:1410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1410 Uncombable hair syndrome HP:0002232 ORPHA:1410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1410 Uncombable hair syndrome HP:0002552 ORPHA:1410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1410 Uncombable hair syndrome HP:0011364 ORPHA:1410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000278 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000324 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000377 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000437 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000455 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000465 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000470 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000506 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000574 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000772 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000929 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000935 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000938 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0001054 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0001256 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0001773 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0002750 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0003298 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0006402 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0006429 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0010761 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0012036 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0012368 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0012810 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0200055 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0430007 ORPHA:488434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3 HP:0000054 ORPHA:488434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0000083 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0000217 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0000670 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0000951 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0001324 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0001369 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0001371 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0001635 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002015 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002017 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002020 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002024 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002092 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002094 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002113 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002206 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002797 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002829 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0002960 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0030016 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0030142 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0100520 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0100585 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0100735 ORPHA:220393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0100958 ORPHA:220393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220393 Diffuse cutaneous systemic sclerosis HP:0200042 ORPHA:220393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000365 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000491 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000656 ORPHA:79394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000966 ORPHA:79394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000982 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0000989 ORPHA:79394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0001019 ORPHA:79394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0001508 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0001596 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0001597 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0004322 ORPHA:79394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0008064 ORPHA:79394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma HP:0200020 ORPHA:79394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0009926 ORPHA:57145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0030953 ORPHA:57145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0032148 ORPHA:57145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0000508 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0000711 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0000713 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0000975 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0001069 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0002076 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0031284 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0031417 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0031731 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0100661 ORPHA:57145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0000282 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0000613 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0000616 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0001041 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0001742 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0002018 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0030766 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0040264 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0100540 ORPHA:57145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57145 SUNCT syndrome HP:0002013 ORPHA:57145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0000972 ORPHA:79395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0007503 ORPHA:79395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0010491 ORPHA:79395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0000962 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0000982 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0001036 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0007465 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0007479 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0025114 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0025525 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0032541 ORPHA:79395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0001596 ORPHA:79395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0001805 ORPHA:79395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0008404 ORPHA:79395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0025092 ORPHA:79395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0040162 ORPHA:79395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0000707 ORPHA:79395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0000407 ORPHA:79395 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0000982 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001030 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0008066 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0008404 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0010783 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0011354 ORPHA:79396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0000953 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001056 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001057 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001075 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001510 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001581 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001596 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001903 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0006297 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0007589 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0007599 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0011471 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0011968 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0100699 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0200097 ORPHA:79396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0000540 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0000613 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001010 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001263 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001363 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001508 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001600 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001601 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001609 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0001805 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0002119 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0002719 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0002780 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0003073 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0004313 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0005483 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0006934 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0007483 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0007957 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0008944 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0010298 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0100806 ORPHA:79396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0006739 ORPHA:79396 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0001070 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0003341 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0007427 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0007585 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0008066 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0009123 ORPHA:79397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0001034 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0002164 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0005590 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0007556 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0008404 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0009719 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0010765 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0045059 ORPHA:79397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0000164 ORPHA:79397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0000992 ORPHA:79397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0001056 ORPHA:79397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0001596 ORPHA:79397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation HP:0200097 ORPHA:79397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1416 Familial calcium pyrophosphate deposition HP:0000934 ORPHA:1416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1416 Familial calcium pyrophosphate deposition HP:0001250 ORPHA:1416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1416 Familial calcium pyrophosphate deposition HP:0001369 ORPHA:1416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1416 Familial calcium pyrophosphate deposition HP:0001373 ORPHA:1416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1416 Familial calcium pyrophosphate deposition HP:0001376 ORPHA:1416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1416 Familial calcium pyrophosphate deposition HP:0001386 ORPHA:1416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1416 Familial calcium pyrophosphate deposition HP:0002758 ORPHA:1416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1416 Familial calcium pyrophosphate deposition HP:0002829 ORPHA:1416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1416 Familial calcium pyrophosphate deposition HP:0005108 ORPHA:1416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1416 Familial calcium pyrophosphate deposition HP:0100593 ORPHA:1416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0001336 ORPHA:324290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0100318 ORPHA:324290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0000708 ORPHA:324290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0001260 ORPHA:324290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0001347 ORPHA:324290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0001250 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0001251 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0001268 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0001285 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0001289 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0002300 ORPHA:324290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324290 Early-onset Lafora body disease HP:0011999 ORPHA:324290 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0000962 ORPHA:79399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0003341 ORPHA:79399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0007585 ORPHA:79399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0008066 ORPHA:79399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0005585 ORPHA:79399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0005590 ORPHA:79399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0007556 ORPHA:79399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0010765 ORPHA:79399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0000164 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0001034 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0001056 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0008404 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0009123 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0009719 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0200097 ORPHA:79399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0000989 ORPHA:79399 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0200034 ORPHA:79399 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0000485 ORPHA:2741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0000501 ORPHA:2741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0000618 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0001376 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0002974 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0002983 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0003027 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0003042 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0004348 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0005048 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0005446 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0006055 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0006439 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0006441 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0006501 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0007957 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0009773 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0012478 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2741 Ophthalmomandibulomelic dysplasia HP:0100490 ORPHA:2741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001324 ORPHA:37553 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0003768 ORPHA:37553 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0003752 ORPHA:37553 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000164 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000347 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001657 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001999 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0004308 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0004322 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0008153 ORPHA:37553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000218 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000219 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000316 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000324 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000325 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000327 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000337 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000369 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000414 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000431 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000677 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000678 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000859 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001250 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001328 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001388 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001510 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001644 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001664 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001773 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001864 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001962 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0002650 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0004691 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0005135 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0005147 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0005184 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0006335 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0006682 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0006696 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0007215 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0011073 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0012745 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0012758 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0025072 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0030799 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0031677 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0200055 ORPHA:37553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000089 ORPHA:37553 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0000124 ORPHA:37553 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37553 Andersen-Tawil syndrome HP:0001279 ORPHA:37553 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0000952 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001000 ORPHA:1414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001004 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001012 ORPHA:1414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001080 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001394 ORPHA:1414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001409 ORPHA:1414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0001744 ORPHA:1414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0002017 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0002027 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0002239 ORPHA:1414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0002240 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0002653 ORPHA:1414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0003077 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0003110 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0004349 ORPHA:1414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0006566 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0011985 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0012378 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1414 Cholestasis-lymphedema syndrome HP:0100763 ORPHA:1414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0000818 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0000843 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0002897 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0003072 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0003165 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0008208 ORPHA:276152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0000825 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0000845 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0000854 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0001031 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0002014 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0002044 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0002574 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0002893 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0004398 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0006767 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0006772 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0008256 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0008283 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0010615 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0011760 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0011761 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0012091 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0012197 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0030445 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0100633 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0100634 ORPHA:276152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0003118 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0006780 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0007449 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0008291 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0010783 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0010788 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0012030 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0012334 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0030079 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0030688 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0100570 ORPHA:276152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276152 Multiple endocrine neoplasia type 4 HP:0100522 ORPHA:276152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000221 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000508 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000597 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000602 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0001249 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0001263 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0001328 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0007703 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0012246 ORPHA:2743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000545 ORPHA:2743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0010628 ORPHA:2743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000512 ORPHA:2743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0002301 ORPHA:2743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0000246 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0000403 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0001508 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0001888 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0002014 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0002788 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0002849 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0002960 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0003212 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0005354 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0005368 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0005390 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0005403 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0006532 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0010444 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0010976 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0011123 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0012393 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0025379 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0030813 ORPHA:277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000924 ORPHA:508533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001263 ORPHA:508533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001270 ORPHA:508533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0004565 ORPHA:508533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000252 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000765 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001156 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001230 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001249 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001252 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001265 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001328 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001888 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001999 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002007 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002808 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002813 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002867 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003196 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003311 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003319 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003375 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003498 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0004313 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005403 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0008807 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0009768 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0009803 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0010049 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0025336 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0031381 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0032061 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0045060 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000085 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000160 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000194 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000212 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000276 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000280 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000293 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000343 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000347 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000414 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000463 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000490 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000520 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000639 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000733 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000960 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001177 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001250 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001276 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001290 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001344 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001347 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001363 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001561 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001634 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0001830 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002079 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002119 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002179 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002197 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002240 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002307 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002341 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002540 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002676 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002750 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002850 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002938 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002987 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0002996 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003051 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003189 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0003212 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0004315 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0004430 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0004894 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005280 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005306 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005407 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005415 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0005619 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0006532 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0008445 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0008462 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0008763 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0008936 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0009053 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0009062 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0009826 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0011166 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0011344 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0030320 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0100865 ORPHA:508533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0001888 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0001954 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002090 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005407 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0010701 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0031381 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0031397 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0040218 ORPHA:276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0000988 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002014 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002718 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002720 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0004315 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005390 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0012735 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0031545 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0045080 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0100806 ORPHA:276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0001508 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002728 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002732 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005353 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005376 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005406 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005428 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0009098 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0011370 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0030813 ORPHA:276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0000952 ORPHA:276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002240 ORPHA:276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0002665 ORPHA:276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0003237 ORPHA:276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0005523 ORPHA:276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0003125 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0004377 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0008151 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0008330 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0030129 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0030680 ORPHA:99147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0000132 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0000421 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0000471 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0000790 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0000978 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0001642 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0001650 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0001653 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0001659 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0001897 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0001931 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0001933 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0001934 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0002239 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0002249 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0002615 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0005261 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0005505 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0025406 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0100608 ORPHA:99147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99147 Acquired von Willebrand syndrome HP:0002170 ORPHA:99147 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001324 ORPHA:273 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001262 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002460 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003740 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0007787 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0031546 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0100284 ORPHA:273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000708 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001288 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002494 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002870 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003326 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0005110 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0006677 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0007010 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0009027 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0012248 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0012378 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0030192 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0030319 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0031466 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0100543 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0100786 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0410011 ORPHA:273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000026 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000029 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000144 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000467 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000483 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000540 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000602 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000716 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000729 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000736 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000739 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000802 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000815 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000819 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000842 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000855 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000867 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001081 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001256 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001260 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001263 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001268 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001319 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001328 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001349 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001488 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001558 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001561 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000712 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001596 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001762 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002014 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002019 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002093 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002120 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002234 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002500 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002527 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002747 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002878 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002910 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002926 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003124 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003202 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003693 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003701 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003722 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0004389 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0004755 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0004887 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0006889 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0007663 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0007941 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0008872 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0009113 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0009830 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0010794 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0010804 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0010952 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0011470 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0011999 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0012899 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0012901 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0012903 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0025169 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0040171 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0040173 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0200136 ORPHA:273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000717 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000718 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0000824 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0001644 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0002540 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003003 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003477 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003547 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0003749 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0008069 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0008770 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0012054 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0012114 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0025318 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0030692 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:273 Steinert myotonic dystrophy HP:0040198 ORPHA:273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000238 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000248 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000268 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000298 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000501 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000505 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000518 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000545 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000648 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000750 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0000767 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001250 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001252 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001263 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001288 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001357 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001371 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001511 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001612 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0001644 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0002119 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0002353 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0003198 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0003457 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0003560 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0007260 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0007370 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0007973 ORPHA:272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0010864 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0030046 ORPHA:272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0100490 ORPHA:272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0002718 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0002720 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0004315 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0005390 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0200043 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0200117 ORPHA:275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0000388 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0000988 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0001045 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0001508 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0002960 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0004429 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0005681 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0009098 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0011107 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0011274 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0031123 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0045080 ORPHA:275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency HP:0000872 ORPHA:275 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0011871 ORPHA:274 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0001892 ORPHA:274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0001902 ORPHA:274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0011879 ORPHA:274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0040185 ORPHA:274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0000132 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0000967 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0002239 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0004406 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0006298 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0007420 ORPHA:274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0000225 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0000978 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0002248 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0004846 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0012143 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0012587 ORPHA:274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0001250 ORPHA:274 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0002076 ORPHA:274 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0002099 ORPHA:274 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:274 Bernard-Soulier syndrome HP:0008738 ORPHA:274 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:270 Oculopharyngeal muscular dystrophy HP:0000298 ORPHA:270 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:270 Oculopharyngeal muscular dystrophy HP:0000508 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:270 Oculopharyngeal muscular dystrophy HP:0000600 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:270 Oculopharyngeal muscular dystrophy HP:0000602 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:270 Oculopharyngeal muscular dystrophy HP:0003198 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:270 Oculopharyngeal muscular dystrophy HP:0003200 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:270 Oculopharyngeal muscular dystrophy HP:0003236 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:270 Oculopharyngeal muscular dystrophy HP:0003302 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:270 Oculopharyngeal muscular dystrophy HP:0003805 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:270 Oculopharyngeal muscular dystrophy HP:0004303 ORPHA:270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0000316 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0000405 ORPHA:1522 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0000407 ORPHA:1522 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0000431 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0000505 ORPHA:1522 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0000506 ORPHA:1522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0000944 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0001291 ORPHA:1522 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0002652 ORPHA:1522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0004493 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0005280 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0010628 ORPHA:1522 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1522 Craniometaphyseal dysplasia HP:0011002 ORPHA:1522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000316 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000445 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000455 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001363 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0004112 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0009116 ORPHA:1521 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000136 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000154 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000200 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000218 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000465 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000486 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001159 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001231 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001357 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001464 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0001540 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0002162 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0002558 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0006008 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0006709 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0009930 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0011959 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0012243 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0030867 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0045075 ORPHA:1521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2856 Persistent Müllerian duct syndrome HP:0000023 ORPHA:2856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2856 Persistent Müllerian duct syndrome HP:0000028 ORPHA:2856 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2856 Persistent Müllerian duct syndrome HP:0000037 ORPHA:2856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000047 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000049 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000164 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000202 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000218 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000248 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000252 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000316 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000324 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000349 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000407 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000431 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000457 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000474 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000494 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000767 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000776 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000889 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000912 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0001156 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0001161 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0001249 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0001252 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0001357 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0001363 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0001852 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0002007 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0002079 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0002162 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0002224 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0002650 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0004122 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0004209 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0005692 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0006101 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0006585 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0006709 ORPHA:1520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0008402 ORPHA:1520 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0010059 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0010719 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0100490 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1520 Craniofrontonasal dysplasia HP:0200021 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000160 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000275 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000316 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000327 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000407 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000457 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000494 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000564 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0000581 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0003019 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0003049 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0003196 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0005280 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0009465 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0009924 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0012368 ORPHA:1529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1529 Craniofacial-deafness-hand syndrome HP:0100490 ORPHA:1529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0000238 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0000252 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0000368 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0000505 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0000568 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0000648 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0001263 ORPHA:1528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0001274 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0001321 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0001339 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0001363 ORPHA:1528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0002007 ORPHA:1528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0002139 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0007330 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1528 Craniotelencephalic dysplasia HP:0100842 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1527 Craniosynostosis, Philadelphia type HP:0000637 ORPHA:1527 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1527 Craniosynostosis, Philadelphia type HP:0001363 ORPHA:1527 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1527 Craniosynostosis, Philadelphia type HP:0006101 ORPHA:1527 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000252 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000365 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000400 ORPHA:2850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000613 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000815 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001156 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001171 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001249 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001250 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001252 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001371 ORPHA:2850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001510 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0001596 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0002209 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0002231 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0002353 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0002650 ORPHA:2850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0002750 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0004322 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0005105 ORPHA:2850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0008064 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0011842 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0100840 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0200012 ORPHA:2850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:269 Facioscapulohumeral dystrophy HP:0000298 ORPHA:269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:269 Facioscapulohumeral dystrophy HP:0000407 ORPHA:269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:269 Facioscapulohumeral dystrophy HP:0000499 ORPHA:269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:269 Facioscapulohumeral dystrophy HP:0030680 ORPHA:269 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:269 Facioscapulohumeral dystrophy HP:0003202 ORPHA:269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:269 Facioscapulohumeral dystrophy HP:0003236 ORPHA:269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:269 Facioscapulohumeral dystrophy HP:0003307 ORPHA:269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:269 Facioscapulohumeral dystrophy HP:0003457 ORPHA:269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:269 Facioscapulohumeral dystrophy HP:0008046 ORPHA:269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:269 Facioscapulohumeral dystrophy HP:0100540 ORPHA:269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0000239 ORPHA:1525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0000929 ORPHA:1525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0000964 ORPHA:1525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0001070 ORPHA:1525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0001369 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0001386 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0001387 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0002758 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0002815 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0002829 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0002992 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0003103 ORPHA:1525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0004097 ORPHA:1525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1525 Cranio-osteoarthropathy HP:0100760 ORPHA:1525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003547 ORPHA:266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003701 ORPHA:266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003749 ORPHA:266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002460 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002540 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003236 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003458 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003551 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003557 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003698 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003736 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0005085 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0006376 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0009027 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0012515 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0012548 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0100297 ORPHA:266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0000297 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002015 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002093 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002792 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002795 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0002878 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0012496 ORPHA:266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003236 ORPHA:268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0007340 ORPHA:268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0008994 ORPHA:268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0001315 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0001640 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0001667 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0001761 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003115 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003307 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003551 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003691 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003722 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0008981 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0008997 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0009046 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0011712 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0012664 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0100748 ORPHA:268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0002015 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0002072 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0002540 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0002996 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003306 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0005085 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0008800 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0008959 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0030051 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0045054 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268 Dysferlin-related limb-girdle muscular dystrophy R2 HP:0100515 ORPHA:268 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001903 ORPHA:508542 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0005528 ORPHA:508542 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000280 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001249 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001635 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001873 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001875 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001882 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001888 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001896 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001999 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0002788 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0002863 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0004322 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0006872 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0010976 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0012758 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0031688 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0031689 ORPHA:508542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000212 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000243 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000365 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000518 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000684 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000765 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000916 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000958 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0000964 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001156 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001482 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0002783 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0004991 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0005180 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0005792 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0010049 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0011800 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0012490 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0012817 ORPHA:508542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0000657 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0000739 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0001251 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0001289 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0002442 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0010523 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0010524 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0010525 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0010526 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0100704 ORPHA:54247 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0000504 ORPHA:54247 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0000551 ORPHA:54247 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0000613 ORPHA:54247 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0010522 ORPHA:54247 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0030217 ORPHA:54247 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0002354 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0002367 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0002463 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0002494 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0011098 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54247 Posterior cortical atrophy HP:0030216 ORPHA:54247 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003324 ORPHA:267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0001371 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0002355 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0002987 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003089 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003236 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003306 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003307 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003560 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003691 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003701 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0005879 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0006466 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0007340 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0008946 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0008981 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0009060 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0012037 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0030051 ORPHA:267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0001239 ORPHA:267 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:267 Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003551 ORPHA:267 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0001256 ORPHA:262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0001288 ORPHA:262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0001387 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0001639 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0002376 ORPHA:262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0002650 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003100 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003198 ORPHA:262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003202 ORPHA:262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003236 ORPHA:262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003307 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0003457 ORPHA:262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:262 Duchenne and Becker muscular dystrophy HP:0004349 ORPHA:262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001513 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001644 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001678 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0000767 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001315 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001387 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002486 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003198 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003236 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0006785 ORPHA:261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0000912 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001288 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001771 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002155 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002515 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002987 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003141 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003306 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003418 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003458 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003691 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003805 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0004631 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0008948 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0008956 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0008994 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0008997 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0011807 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0030117 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0030051 ORPHA:261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0000508 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001252 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002650 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002808 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0003307 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0005115 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0008064 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0009125 ORPHA:261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001605 ORPHA:261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001639 ORPHA:261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001645 ORPHA:261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0002747 ORPHA:261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0005155 ORPHA:261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261 Emery-Dreifuss muscular dystrophy HP:0001249 ORPHA:261 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1509 Coxopodopatellar syndrome HP:0001385 ORPHA:1509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1509 Coxopodopatellar syndrome HP:0002644 ORPHA:1509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1509 Coxopodopatellar syndrome HP:0002815 ORPHA:1509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1509 Coxopodopatellar syndrome HP:0005930 ORPHA:1509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1509 Coxopodopatellar syndrome HP:0006498 ORPHA:1509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000308 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000431 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000463 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000708 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0001336 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0003763 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0004322 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0007018 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0011342 ORPHA:324313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000248 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000369 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000565 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0002378 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:3000022 ORPHA:324313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000218 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000286 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000403 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000540 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000574 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000826 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000957 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0000958 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0001387 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0001537 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0001795 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0001800 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0002553 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0002650 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0003241 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0004209 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0010489 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324313 9p13 microdeletion syndrome HP:0011330 ORPHA:324313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000013 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000047 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000054 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000144 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000147 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000786 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000815 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000823 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000939 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0002215 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0002225 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0002231 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0002750 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0004349 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008187 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008193 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008214 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008232 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008675 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0011969 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0012112 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0030349 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0040171 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0100607 ORPHA:90796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000028 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000868 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0004322 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008726 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008734 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0012041 ORPHA:90796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000033 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000037 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000771 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0001508 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0008730 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0012244 ORPHA:90796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002376 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002384 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002509 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002540 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0007772 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0008947 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0011198 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0100704 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000396 ORPHA:488613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000767 ORPHA:488613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002126 ORPHA:488613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0012448 ORPHA:488613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000252 ORPHA:488613 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001263 ORPHA:488613 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001290 ORPHA:488613 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001249 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001250 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001508 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0001510 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002353 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002474 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0010841 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0011968 ORPHA:488613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000126 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000175 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000218 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000486 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0000639 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002069 ORPHA:488613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2843 Pentosuria HP:0011021 ORPHA:2843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2843 Pentosuria HP:0031979 ORPHA:2843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2843 Pentosuria HP:0011013 ORPHA:2843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0000151 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0003251 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0010463 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0011969 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0030088 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0031102 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0040307 ORPHA:90797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0000047 ORPHA:90797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0000062 ORPHA:90797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0000771 ORPHA:90797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0008689 ORPHA:90797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0025132 ORPHA:90797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0000027 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0000048 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0000051 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0000054 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0000786 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0001620 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0008189 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0008665 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0009888 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0025134 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0025486 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0040314 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0100728 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90797 Partial androgen insensitivity syndrome HP:0100779 ORPHA:90797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000522 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0001249 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0001263 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0001270 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0001344 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0012434 ORPHA:289483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000486 ORPHA:289483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0002571 ORPHA:289483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0009916 ORPHA:289483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000384 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000718 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000805 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0002002 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0002015 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0002119 ORPHA:289483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome HP:0000834 ORPHA:289483 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0009112 ORPHA:2847 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0011635 ORPHA:2847 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0002089 ORPHA:2847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0002643 ORPHA:2847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0012418 ORPHA:2847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0000766 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0000767 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0000776 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0001627 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0001631 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0001636 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0001643 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0001647 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0001718 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0001962 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0002245 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0002566 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0012718 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0100632 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2847 Pericardial and diaphragmatic defect HP:0100749 ORPHA:2847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001225 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001836 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0002812 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0002938 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0003940 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0005086 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0005195 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0008812 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0100490 ORPHA:2848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0000939 ORPHA:2848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0012062 ORPHA:2848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0100864 ORPHA:2848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001634 ORPHA:2848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001653 ORPHA:2848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001701 ORPHA:2848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0002102 ORPHA:2848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001541 ORPHA:2848 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0008610 ORPHA:2848 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0100018 ORPHA:2848 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0012649 ORPHA:2848 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000098 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000177 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000194 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000256 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000278 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000311 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000319 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000347 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000348 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000431 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000490 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0001249 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0001252 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0001263 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0001328 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0002240 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0003196 ORPHA:2849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000028 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000187 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000286 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000358 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000369 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000391 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000463 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000842 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0002667 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0002705 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0008736 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0012090 ORPHA:2849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000023 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000268 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0000508 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0001250 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0002133 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0005306 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0007598 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0010733 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2849 Perlman syndrome HP:0100541 ORPHA:2849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000028 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000049 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000086 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000202 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000232 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000233 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000248 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000311 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000316 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000343 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000349 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000369 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000426 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000431 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000486 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000494 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000508 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000520 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000574 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0000767 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001156 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001537 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001539 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001629 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001631 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001636 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001643 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0001831 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0002553 ORPHA:1519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0003196 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0004209 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0004467 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0006101 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0006288 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0010458 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0010751 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0011039 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0011220 ORPHA:1519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1519 SPECC1L-related hypertelorism syndrome HP:0011675 ORPHA:1519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0001945 ORPHA:54251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0011227 ORPHA:54251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0001824 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0001903 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0002027 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0002733 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0002910 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0011897 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0100523 ORPHA:54251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0000035 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0001732 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0002014 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0002088 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0003326 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0030049 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0100763 ORPHA:54251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome HP:0000077 ORPHA:54251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000154 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000256 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000280 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000286 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000294 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000336 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000343 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000431 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000463 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000470 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000527 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000574 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000774 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000885 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000926 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000939 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0000944 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0001256 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0001537 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0001639 ORPHA:1517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0001640 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0001643 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0001654 ORPHA:1517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0001869 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0002162 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0002230 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0002652 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0002673 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0002750 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0003300 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0004634 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0005616 ORPHA:1517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0006101 ORPHA:1517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0007665 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0009882 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0010059 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0010109 ORPHA:1517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1517 Cantú syndrome HP:0012471 ORPHA:1517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000953 ORPHA:90790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0003154 ORPHA:90790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0008730 ORPHA:90790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000055 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000841 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0001945 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0002013 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0002153 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0002902 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0008163 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0008221 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0030347 ORPHA:90790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000037 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000053 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000707 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000952 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0001250 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0001298 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0001508 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0001943 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0002090 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0010885 ORPHA:90790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0003002 ORPHA:90790 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0012114 ORPHA:90790 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0040187 ORPHA:90790 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000163 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000194 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000238 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000256 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000268 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000286 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000316 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000322 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000324 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000347 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000369 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000402 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000430 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000431 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000470 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000486 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000494 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000639 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000960 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0001052 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0001363 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0001537 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0001643 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0002007 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0002079 ORPHA:1516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0004209 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0004322 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0009891 ORPHA:1516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis HP:0011344 ORPHA:1516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008258 ORPHA:90791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000033 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000047 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000061 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000127 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000771 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000848 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000953 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0001944 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0001998 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0002013 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0002153 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0002615 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0002902 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0004319 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008163 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008665 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0011749 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0012041 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0025380 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0030088 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0031213 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0040171 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0500022 ORPHA:90791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000027 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000028 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000037 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0000808 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0001007 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0001508 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008730 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008734 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0012412 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0012768 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0012881 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0001263 ORPHA:90791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0001263 ORPHA:488618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0001627 ORPHA:488618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0003508 ORPHA:488618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0025550 ORPHA:488618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0000518 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0000554 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0000722 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0000750 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0001252 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0001256 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0001344 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0001629 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0001631 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0007018 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0410072 ORPHA:488618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0000107 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0000365 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0000509 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0000733 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0000869 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0001051 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0001643 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0001655 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0002240 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0011686 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0100651 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488618 Transketolase deficiency HP:0100716 ORPHA:488618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000164 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000232 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000268 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000269 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000286 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000463 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000545 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000601 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000639 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000668 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000679 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000682 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000691 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000767 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000774 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000939 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000940 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0000944 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0001156 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0001231 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0001363 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0002007 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0004209 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0005692 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0006101 ORPHA:1515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0008070 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0008388 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0008499 ORPHA:1515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0008905 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1515 Cranioectodermal dysplasia HP:0009882 ORPHA:1515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0000248 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0000347 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0000446 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0000527 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0000574 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0001249 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0002230 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0003196 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0003298 ORPHA:1514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0004322 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0006101 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0007477 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0010720 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1514 Craniodigital-intellectual disability syndrome HP:0100874 ORPHA:1514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0000592 ORPHA:2840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0001288 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0001376 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0002827 ORPHA:2840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0003100 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0003202 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0003298 ORPHA:2840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0005280 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0008839 ORPHA:2840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0010767 ORPHA:2840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001252 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001270 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001324 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001612 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001939 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002020 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002375 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002540 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002878 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0003560 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0003741 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0009025 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0030091 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0030234 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0100295 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0100614 ORPHA:258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0000158 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001249 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001250 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001371 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002181 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002446 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002783 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002835 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0003457 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0005216 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0010628 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0010754 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0012747 ORPHA:258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0000194 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0000649 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001302 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001315 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001319 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001339 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001638 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002015 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002058 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002121 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002650 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002791 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0003307 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0004325 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0004878 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0006879 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0007141 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0007359 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0010808 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0011675 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0012664 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0100543 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0100750 ORPHA:258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002092 ORPHA:258 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy HP:0002093 ORPHA:258 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000822 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000837 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008258 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0031074 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0032330 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0032362 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0040171 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0500022 ORPHA:90793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000026 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000047 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000138 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000144 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000771 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000786 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000823 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000858 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0002750 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0002900 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0003351 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0004319 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008163 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008187 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008197 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008232 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008689 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0011749 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0011969 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0031216 ORPHA:90793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000033 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000048 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000054 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000151 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0001508 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0002221 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0002555 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0003251 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0003394 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008207 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0008730 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0010465 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0040314 ORPHA:90793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0000256 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0000280 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0000402 ORPHA:1513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0000405 ORPHA:1513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0000431 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0000648 ORPHA:1513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0000772 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0001249 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0002007 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0004322 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0004493 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0005019 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1513 Craniodiaphyseal dysplasia HP:0005280 ORPHA:1513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2841 Familial benign chronic pemphigus HP:0000962 ORPHA:2841 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2841 Familial benign chronic pemphigus HP:0010783 ORPHA:2841 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2841 Familial benign chronic pemphigus HP:0100792 ORPHA:2841 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2841 Familial benign chronic pemphigus HP:0200041 ORPHA:2841 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2841 Familial benign chronic pemphigus HP:0200037 ORPHA:2841 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0008163 ORPHA:90794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0030348 ORPHA:90794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0031074 ORPHA:90794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0031213 ORPHA:90794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0031216 ORPHA:90794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000127 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000140 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000144 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000811 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000841 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000876 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001007 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001061 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001507 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001508 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001824 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001944 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0001998 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0002013 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0002153 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0002615 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0002902 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0003113 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0003154 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0003639 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0004012 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0004319 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0004322 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0005616 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0005976 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0008207 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0008665 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0011106 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0011968 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0012411 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0012417 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0012605 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0025380 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0030088 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0031066 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0500022 ORPHA:90794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000040 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000044 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000061 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000062 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000098 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0000151 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0002292 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0005268 ORPHA:90794 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0008734 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0010465 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0012412 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0025451 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0025486 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0031273 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0100779 ORPHA:90794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0000028 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0000175 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0000316 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0000347 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0000368 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0000463 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0000882 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0001387 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0001511 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0001762 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0001770 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0002119 ORPHA:1512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0004331 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0005280 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0006101 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0006660 ORPHA:1512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0007370 ORPHA:1512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0008736 ORPHA:1512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0009882 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1512 Crane-Heise syndrome HP:0100569 ORPHA:1512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000047 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000049 ORPHA:2842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000069 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000078 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000104 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000110 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000269 ORPHA:2842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000286 ORPHA:2842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000347 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000768 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000795 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0000811 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0001638 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0002120 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0004209 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0006443 ORPHA:2842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0006610 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0007598 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0010751 ORPHA:2842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2842 Penoscrotal transposition HP:0100600 ORPHA:2842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000062 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000822 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0001507 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0002900 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0003351 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0005616 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0008163 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0025380 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0030348 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0031213 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0032330 ORPHA:90795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000040 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000061 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000826 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000858 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000953 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0001007 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0001061 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0003154 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0004322 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0008236 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0008665 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0012411 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0012412 ORPHA:90795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000127 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000147 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000771 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0001596 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0025451 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0030088 ORPHA:90795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0002170 ORPHA:90795 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0010314 ORPHA:90795 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0001298 ORPHA:51188 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0003219 ORPHA:51188 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0000967 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0001063 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0001249 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0001250 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0001251 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0001290 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0001508 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0002014 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0002071 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0002376 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0003128 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0007256 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0012751 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0012758 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0012841 ORPHA:51188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51188 Ethylmalonic encephalopathy HP:0012747 ORPHA:51188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276183 Spinocerebellar ataxia type 32 HP:0000027 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276183 Spinocerebellar ataxia type 32 HP:0000029 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276183 Spinocerebellar ataxia type 32 HP:0001272 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276183 Spinocerebellar ataxia type 32 HP:0002073 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276183 Spinocerebellar ataxia type 32 HP:0003251 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276183 Spinocerebellar ataxia type 32 HP:0100543 ORPHA:276183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000544 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002013 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002015 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002018 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002020 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002027 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002352 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002579 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003270 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0004326 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0004396 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0007141 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0012850 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0025149 ORPHA:298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000407 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000508 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000597 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001155 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001824 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002014 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002460 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002500 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002910 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0002922 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003128 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003200 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003348 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003387 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003388 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003401 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003431 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003448 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003477 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0007108 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0008049 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0009027 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0009830 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0011024 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0012103 ORPHA:298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000044 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000815 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001249 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001394 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001403 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0001903 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0003199 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0025461 ORPHA:298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy HP:0000726 ORPHA:298 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000453 ORPHA:280200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0006315 ORPHA:280200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0010644 ORPHA:280200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000252 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000322 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000446 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000601 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0001249 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0001511 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0001622 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0004322 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0010804 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000062 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000104 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000175 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000202 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000463 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000486 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000612 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000821 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0000871 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0001028 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0001250 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0001274 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0001360 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0001636 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0002099 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0002247 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0030680 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0002650 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0003196 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0003458 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0008736 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0009800 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280200 Microform holoprosencephaly HP:0009914 ORPHA:280200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002098 ORPHA:99125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0000961 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001631 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001649 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002092 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002875 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011539 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011719 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0012378 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0012763 ORPHA:99125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0000980 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001629 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001640 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001643 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001651 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001708 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001719 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001750 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002033 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002089 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002205 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0002240 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0004383 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0004415 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0004887 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0005180 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0005253 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0005949 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0009805 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011720 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011721 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011722 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0030853 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0030918 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0030919 ORPHA:99125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001653 ORPHA:99125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001669 ORPHA:99125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0001680 ORPHA:99125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0011560 ORPHA:99125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99125 Congenital total pulmonary venous return anomaly HP:0012304 ORPHA:99125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:295 Fetal parvovirus syndrome HP:0000478 ORPHA:295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:295 Fetal parvovirus syndrome HP:0000504 ORPHA:295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:295 Fetal parvovirus syndrome HP:0001511 ORPHA:295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:295 Fetal parvovirus syndrome HP:0001541 ORPHA:295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:295 Fetal parvovirus syndrome HP:0001639 ORPHA:295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:295 Fetal parvovirus syndrome HP:0001789 ORPHA:295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:295 Fetal parvovirus syndrome HP:0001873 ORPHA:295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:295 Fetal parvovirus syndrome HP:0001903 ORPHA:295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:295 Fetal parvovirus syndrome HP:0010880 ORPHA:295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0000989 ORPHA:33314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0000992 ORPHA:33314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0004332 ORPHA:33314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0010783 ORPHA:33314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0200034 ORPHA:33314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33314 Jessner lymphocytic infiltration of the skin HP:0200035 ORPHA:33314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:294 Fetal cytomegalovirus syndrome HP:0000407 ORPHA:294 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:294 Fetal cytomegalovirus syndrome HP:0000478 ORPHA:294 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:294 Fetal cytomegalovirus syndrome HP:0000504 ORPHA:294 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:294 Fetal cytomegalovirus syndrome HP:0001744 ORPHA:294 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294 Fetal cytomegalovirus syndrome HP:0001903 ORPHA:294 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294 Fetal cytomegalovirus syndrome HP:0001928 ORPHA:294 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294 Fetal cytomegalovirus syndrome HP:0002240 ORPHA:294 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0012229 ORPHA:297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0001882 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002018 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002039 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002315 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002829 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0003326 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0011112 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0012378 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0020071 ORPHA:297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0000360 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0000365 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0000505 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0000602 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0000613 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0000708 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0000716 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0000751 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0001262 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0001287 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0001291 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0001308 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0001337 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0001873 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0001974 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002013 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002015 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002311 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002321 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002360 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002487 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0003202 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0003237 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0003418 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0003470 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0003474 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0003496 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0003565 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0004372 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0009763 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0011098 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0011227 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0011392 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0011450 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0012332 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0025258 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0031987 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0032044 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0100543 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:3000047 ORPHA:297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0000709 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0001259 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0001637 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002197 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0002910 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0007359 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0010628 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0011441 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0012486 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0012747 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0030196 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0031003 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:297 Tick-borne encephalitis HP:0031258 ORPHA:297 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0000826 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0000926 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0000944 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0001028 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0001387 ORPHA:296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0001482 ORPHA:296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0001903 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0001928 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0002653 ORPHA:296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0002664 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0002763 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0002797 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0002983 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0004936 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0005701 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0006765 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0100242 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0100761 ORPHA:296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0100764 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:296 Ollier disease HP:0200042 ORPHA:296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000160 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000233 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000316 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000343 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000347 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000369 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000400 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000426 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000494 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000252 ORPHA:96097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0004322 ORPHA:96097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000028 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000047 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000670 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000750 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0001156 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0001363 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0001629 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0002342 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0002984 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0003022 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0003196 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000286 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0012368 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0100790 ORPHA:96097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000567 ORPHA:96097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0000964 ORPHA:96097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0001651 ORPHA:96097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0009777 ORPHA:96097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96097 Distal trisomy 5q HP:0011466 ORPHA:96097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:291 Congenital varicella syndrome HP:0000252 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:291 Congenital varicella syndrome HP:0000518 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:291 Congenital varicella syndrome HP:0000568 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:291 Congenital varicella syndrome HP:0000987 ORPHA:291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:291 Congenital varicella syndrome HP:0001249 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:291 Congenital varicella syndrome HP:0001263 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:291 Congenital varicella syndrome HP:0001511 ORPHA:291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:291 Congenital varicella syndrome HP:0002120 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:291 Congenital varicella syndrome HP:0002983 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000235 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000252 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000407 ORPHA:290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000486 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000501 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000505 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000518 ORPHA:290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000568 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000639 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000944 ORPHA:290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000952 ORPHA:290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0000988 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001249 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001250 ORPHA:290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001252 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001264 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001511 ORPHA:290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001629 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001631 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001643 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001744 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001873 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0001903 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0002167 ORPHA:290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0002240 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0004322 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0004414 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0007703 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0007957 ORPHA:290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0008053 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:290 Congenital rubella syndrome HP:0100651 ORPHA:290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293 Congenital herpes simplex virus infection HP:0000252 ORPHA:293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293 Congenital herpes simplex virus infection HP:0001511 ORPHA:293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293 Congenital herpes simplex virus infection HP:0001622 ORPHA:293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293 Congenital herpes simplex virus infection HP:0002324 ORPHA:293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0000988 ORPHA:292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0000707 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0000737 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001287 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001873 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001945 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0002086 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0025031 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0100806 ORPHA:292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001396 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001399 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001558 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001561 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001622 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001638 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001698 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001789 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001791 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001875 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001882 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001892 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001903 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001974 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0002098 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0002119 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0002202 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0002383 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0002615 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0003073 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0005521 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0011121 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0012115 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0012758 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0012819 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0025116 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0200149 ORPHA:292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0001987 ORPHA:292 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0002045 ORPHA:292 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:292 Congenital enterovirus infection HP:0004311 ORPHA:292 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000028 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000054 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000079 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000126 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000154 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000232 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000278 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000311 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000316 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000343 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000347 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000384 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000400 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000431 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000463 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000470 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000478 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000592 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000664 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000717 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000729 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000750 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001263 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000767 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0000826 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0004209 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001249 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001250 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001256 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001276 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001305 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001274 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001321 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002827 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001627 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001636 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001651 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0001999 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002292 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002510 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002650 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002705 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0002916 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0005656 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0005781 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0100807 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0006292 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0007020 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0007018 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0008947 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0010487 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0010864 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0011220 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0011344 ORPHA:96092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0011466 ORPHA:96092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96092 8p inverted duplication/deletion syndrome HP:0100710 ORPHA:96092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000414 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000447 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000750 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001252 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001263 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001999 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0100025 ORPHA:363958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000028 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000047 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000119 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000232 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000276 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000286 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000365 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000400 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000411 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000486 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000505 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000508 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000540 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000582 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000708 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000968 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001250 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001256 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001319 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001373 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001382 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001388 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001518 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001627 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001761 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001763 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001848 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002011 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002119 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002342 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002353 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0005656 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0007359 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0008897 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0011182 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0011185 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0011968 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0012433 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0012443 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0012745 ORPHA:363958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000010 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000075 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000076 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000126 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000194 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000238 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000256 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000403 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000426 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000430 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000431 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000519 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000581 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000648 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000729 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000739 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000748 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000767 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000768 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000826 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000957 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000960 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000962 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000964 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001010 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001045 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001054 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001166 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001212 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001274 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001363 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001533 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001596 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001601 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001629 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001631 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001638 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001642 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001647 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002079 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002197 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002205 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002286 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002414 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002650 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002652 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002779 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002808 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0003302 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0003307 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0004942 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0005216 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0006482 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0006813 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0007018 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0007099 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0008064 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0008207 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0008445 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0009130 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0009928 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0010864 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0010945 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0011098 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0011470 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0011822 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0012683 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0012699 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0025268 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0030746 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0100775 ORPHA:363958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000252 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000821 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000824 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0001028 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0002861 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0010788 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000207 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000232 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000272 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000316 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000322 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000457 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000494 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000508 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0001643 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0005280 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0012471 ORPHA:46627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0004209 ORPHA:46627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0004220 ORPHA:46627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0006159 ORPHA:46627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000269 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000365 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000486 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0000545 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0001161 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0001263 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0001629 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0001770 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0002360 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0002558 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0004218 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0006335 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0008498 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:46627 Char syndrome HP:0010112 ORPHA:46627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0001250 ORPHA:244310 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0001252 ORPHA:244310 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0001263 ORPHA:244310 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0000365 ORPHA:244310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0002804 ORPHA:244310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0000252 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0000505 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0001508 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0001892 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0001928 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0001977 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0002240 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0003186 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0004322 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0011968 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0000932 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0001251 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0002059 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0002120 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0002401 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0007146 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244310 RFT1-CDG HP:0030890 ORPHA:244310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0000407 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0000486 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0000501 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0000541 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0000787 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0000822 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0001072 ORPHA:2833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0001324 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0001376 ORPHA:2833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0001482 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0003011 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0003119 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0004322 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0005978 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0007328 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0008065 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0009830 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0011800 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0100578 ORPHA:2833 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2833 Stiff skin syndrome HP:0100679 ORPHA:2833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0007407 ORPHA:2834 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000023 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000028 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000218 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000253 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000286 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000316 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000319 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000343 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000369 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000455 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000494 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000670 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000684 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000750 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000767 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000938 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0000973 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001263 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001374 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001476 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001508 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001511 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001537 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001611 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001763 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001788 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001869 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0002645 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0002751 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0002761 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0002812 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0003160 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0003199 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0004322 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0004426 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0004993 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0005272 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0005425 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0006114 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0006191 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0006891 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0007392 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0007457 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0008070 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0008113 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0008897 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0008947 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0009125 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0010838 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0011003 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0025167 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0200141 ORPHA:2834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001305 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001320 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0001350 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0002073 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0002133 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0011995 ORPHA:2834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0010989 ORPHA:2834 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2834 Wrinkly skin syndrome HP:0002097 ORPHA:2834 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000044 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000164 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000545 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000668 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0001251 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0001260 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0001332 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0006808 ORPHA:289494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000496 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000823 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0001337 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0002015 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0002071 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0002307 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0002493 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0004322 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0007240 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0030890 ORPHA:289494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000570 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000640 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000684 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000824 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0001250 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0001268 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0001272 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0001310 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0002075 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0002079 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0002926 ORPHA:289494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000518 ORPHA:289494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0000648 ORPHA:289494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289494 4H leukodystrophy HP:0031206 ORPHA:289494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000256 ORPHA:2835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000271 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000272 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000336 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000337 ORPHA:2835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000767 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0001252 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0001263 ORPHA:2835 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0001800 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0002164 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0003196 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0004322 ORPHA:2835 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0005280 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0010669 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0011220 ORPHA:2835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000174 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000177 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000194 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000212 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000238 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000252 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000272 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000286 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000293 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000400 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000463 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000496 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000572 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0000648 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0001182 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0001250 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0001263 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0001272 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0001347 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0001371 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0001376 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0002119 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0002120 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0002132 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0002205 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0002329 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0002353 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0002521 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0002804 ORPHA:2836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0003196 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0004422 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0006829 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0007366 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0008572 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0010741 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0010864 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0011800 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0011968 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0012398 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0012469 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0100022 ORPHA:2836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2836 PEHO syndrome HP:0100540 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0000077 ORPHA:2838 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0000079 ORPHA:2838 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0000407 ORPHA:2838 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0000072 ORPHA:2838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0000126 ORPHA:2838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2838 Renal caliceal diverticuli-deafness syndrome HP:0010935 ORPHA:2838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0005775 ORPHA:2839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000062 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000126 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000171 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000175 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000238 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000347 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000480 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000482 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000612 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000890 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0001159 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0001591 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0001762 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0002324 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0002414 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0002515 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0002938 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0003083 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0003173 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0003175 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0003312 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0004322 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0005026 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0005613 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0005769 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0006077 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0006492 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0006710 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0006712 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0006713 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0007633 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0008472 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0008551 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0008807 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0008857 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0009100 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0009937 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0012745 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0000377 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2839 Pelvis-shoulder dysplasia HP:0100490 ORPHA:2839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1508 Coxoauricular syndrome HP:0000365 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1508 Coxoauricular syndrome HP:0000413 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1508 Coxoauricular syndrome HP:0002644 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1508 Coxoauricular syndrome HP:0002823 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1508 Coxoauricular syndrome HP:0002827 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1508 Coxoauricular syndrome HP:0002983 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1508 Coxoauricular syndrome HP:0004322 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1508 Coxoauricular syndrome HP:0004349 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1508 Coxoauricular syndrome HP:0008551 ORPHA:1508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000003 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000023 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000028 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000126 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000154 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000164 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000174 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000202 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000212 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000256 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000286 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000316 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000322 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000343 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000347 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000365 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000368 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000389 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000431 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000463 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000470 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000486 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000494 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000508 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000520 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000527 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000582 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000592 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000637 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000668 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000767 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000768 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000902 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0000960 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001052 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001156 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001171 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001249 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001522 ORPHA:1507 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001537 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001596 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001629 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001631 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001636 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001641 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001679 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001702 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001770 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0001852 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002007 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002205 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002263 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002650 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002714 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0002808 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0003027 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0003042 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0003196 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0003272 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0003422 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0004209 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0004397 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0005048 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0005280 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0006101 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0007598 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0008736 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0008873 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0009882 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0010059 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0010296 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0010297 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0010804 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0010807 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0011069 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0011304 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0011800 ORPHA:1507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0012815 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0100490 ORPHA:1507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1507 Autosomal recessive Robinow syndrome HP:0100798 ORPHA:1507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0000174 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0000256 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0000368 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0000772 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0001511 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0002007 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0002644 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome HP:0003100 ORPHA:1506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000773 ORPHA:1505 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0010442 ORPHA:1505 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000774 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000888 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001511 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001561 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0003016 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0004599 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0005054 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0005257 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0008873 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0009106 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0009381 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0009826 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0010660 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0010675 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0011314 ORPHA:1505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000077 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000090 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000113 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000119 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000175 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000202 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000946 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000969 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001156 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001317 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001392 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001407 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001538 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001627 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001669 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0002006 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0002060 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0002589 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0002693 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0002867 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0002878 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0002983 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0003026 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0003180 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0005280 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0005469 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0005483 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0005736 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0005766 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0010454 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0010579 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0010880 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0011220 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0011849 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0025423 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0040163 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0100779 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0410030 ORPHA:1505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000047 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000476 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000488 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0000882 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001159 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001395 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0001696 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0002566 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0004349 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0006487 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0010766 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1505 Short rib-polydactyly syndrome HP:0100611 ORPHA:1505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001531 ORPHA:488627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000280 ORPHA:488627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001250 ORPHA:488627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001263 ORPHA:488627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000093 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000253 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002120 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002187 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002355 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002465 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0007052 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0007334 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0012213 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0012622 ORPHA:488627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000100 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000407 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000486 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000505 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000592 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000639 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000709 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000718 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0000961 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001260 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001288 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001290 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001344 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001347 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001970 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002015 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002079 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002119 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002141 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002193 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002367 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0002857 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0006956 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0006989 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0040329 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0100702 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0100814 ORPHA:488627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0000286 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0000303 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0000445 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0000457 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0001156 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0002812 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0002857 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0003196 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0003307 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0003312 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0004097 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0005687 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0005792 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0008905 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0010049 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0012368 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2831 Rhizomelic dysplasia, Patterson-Lowry type HP:0100729 ORPHA:2831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0006744 ORPHA:1501 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0000080 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0000737 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0000739 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0000819 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0000822 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0000859 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0000975 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0000998 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0001065 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0001324 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0001824 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0001939 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0001962 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0002027 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0002900 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0003118 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0003466 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0004324 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0011748 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0012030 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0025134 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0025269 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0025380 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0025436 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0030078 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0030348 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0500022 ORPHA:1501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1501 Adrenocortical carcinoma HP:0003110 ORPHA:1501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0001877 ORPHA:288 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0004445 ORPHA:288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0005502 ORPHA:288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0000952 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0001744 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0001878 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0001923 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0002904 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0003265 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0004446 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0004447 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0004804 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0006579 ORPHA:288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0001081 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0001789 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0001945 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0002007 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0002027 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0008897 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:288 Hereditary elliptocytosis HP:0025143 ORPHA:288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0000962 ORPHA:79503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0001371 ORPHA:79503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0001581 ORPHA:79503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0007447 ORPHA:79503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0007460 ORPHA:79503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0008064 ORPHA:79503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0008404 ORPHA:79503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79503 Ichthyosis hystrix of Curth-Macklin HP:0011889 ORPHA:79503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000974 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001027 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001030 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001065 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001073 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001075 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002761 ORPHA:287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000938 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001058 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001252 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001324 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002013 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002018 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002020 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0003394 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0003771 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0012378 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0012450 ORPHA:287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000015 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000023 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000139 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000286 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000481 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000978 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0000993 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001063 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001270 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001386 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001537 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001622 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001760 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001762 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001763 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001788 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002035 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002036 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002616 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002650 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002758 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002827 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002829 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002999 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0003010 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0003083 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0003834 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0004872 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0004944 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0004947 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0005294 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0006243 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0007495 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0009763 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0010749 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0010750 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0010754 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0025014 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0025019 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0025509 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0030009 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0031364 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0031653 ORPHA:287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001278 ORPHA:287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001634 ORPHA:287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001653 ORPHA:287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0001704 ORPHA:287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:287 Classical Ehlers-Danlos syndrome HP:0002315 ORPHA:287 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000008 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000028 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000039 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000047 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000069 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000072 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000077 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000164 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000190 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000233 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000486 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000668 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000684 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000691 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000774 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0000924 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001161 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001231 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001241 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001249 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001508 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001511 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001595 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001597 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001629 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001631 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001651 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001654 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001696 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001800 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0001829 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0002097 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0002164 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0002488 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0030680 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0002644 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0002750 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0002857 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0002967 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0002983 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0005048 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0005561 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0006695 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0006703 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0008678 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0008921 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0009882 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0010306 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0011065 ORPHA:289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0011362 ORPHA:289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289 Ellis Van Creveld syndrome HP:0011830 ORPHA:289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002073 ORPHA:276193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0001260 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0001272 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0001310 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0001347 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002066 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002070 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002080 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002355 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0003487 ORPHA:276193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0000467 ORPHA:276193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0000473 ORPHA:276193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0000641 ORPHA:276193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0002342 ORPHA:276193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0007024 ORPHA:276193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0000602 ORPHA:276193 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0000639 ORPHA:276193 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:276193 Spinocerebellar ataxia type 35 HP:0009830 ORPHA:276193 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0000639 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002061 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002171 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0006808 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0007210 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0010864 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0012447 ORPHA:280210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001251 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001252 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001260 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001344 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002421 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002540 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0004302 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0006511 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0007227 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0012043 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0030187 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0031954 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0040330 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0430015 ORPHA:280210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001321 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0001508 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002355 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0002878 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0004322 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form HP:0040288 ORPHA:280210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0003077 ORPHA:79506 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0003124 ORPHA:79506 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0010980 ORPHA:79506 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0012184 ORPHA:79506 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0012153 ORPHA:79506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0004416 ORPHA:79506 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79506 Cholesterol-ester transfer protein deficiency HP:0010874 ORPHA:79506 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001407 ORPHA:284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001880 ORPHA:284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0003565 ORPHA:284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0010702 ORPHA:284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0000952 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001410 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001903 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001945 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0002027 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0003419 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0010741 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0012378 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0025406 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0410019 ORPHA:284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0000107 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0000766 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001824 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0002094 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0002105 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0002315 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0010766 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0011732 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0012735 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0025408 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0030151 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0031292 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0032445 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0100749 ORPHA:284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0000775 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001250 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001251 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001260 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001269 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001409 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001697 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0001737 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0002013 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0002321 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0002381 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0002516 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0002613 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0002639 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0003468 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0010576 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0011805 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0012062 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0025487 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0040163 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0100016 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284 Alveolar echinococcosis HP:0100523 ORPHA:284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000015 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000023 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000028 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000047 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000139 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000160 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000164 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000168 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000190 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000212 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000230 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000233 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000271 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000286 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000316 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000411 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000446 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000490 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000499 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000501 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000506 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000508 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000520 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000563 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000592 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000615 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000670 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000691 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000704 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000767 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000822 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000912 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000951 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000963 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000978 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0000995 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001000 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001073 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001263 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001373 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001374 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001482 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001537 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001582 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001596 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001622 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001634 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001654 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001762 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0001892 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002076 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002093 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002105 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002107 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002242 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002321 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002326 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0030680 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002617 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002619 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002642 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002647 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002705 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002758 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002797 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0002900 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004322 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004372 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004937 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004942 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004947 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0004970 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0005244 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0005294 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0005692 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0006323 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0007392 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0007495 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0007900 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0009906 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0010318 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0010535 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0010648 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0010719 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0011029 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0012368 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0012733 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100543 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100545 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100585 ORPHA:286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100645 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100718 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100784 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100817 ORPHA:286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:286 Vascular Ehlers-Danlos syndrome HP:0100840 ORPHA:286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000023 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000140 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000144 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000164 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000168 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000174 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000212 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000230 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000286 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000508 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000563 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000691 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000716 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000762 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000963 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000974 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000977 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0000987 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001063 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001097 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001373 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001376 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001482 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001537 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001760 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0001763 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002017 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002019 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002020 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002024 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002076 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002104 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002321 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002360 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002579 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002645 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002650 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002758 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002797 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002827 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0002829 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0003019 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0003042 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0003326 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0003401 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0004970 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0005293 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0005294 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0005692 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0010318 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0011675 ORPHA:285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0012378 ORPHA:285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0012732 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0100550 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0100645 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:285 Hypermobile Ehlers-Danlos syndrome HP:0100823 ORPHA:285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000028 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000047 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000077 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000078 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000079 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000153 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000159 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000175 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000204 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000252 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000268 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000286 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000288 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000316 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000322 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000347 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000348 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000365 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000368 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000389 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000431 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000485 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000486 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000488 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000494 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000508 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000520 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000612 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000639 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000647 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000648 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000668 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000765 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000776 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000902 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000925 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000939 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000960 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001028 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001166 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001171 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001177 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001250 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001251 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001252 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001263 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001274 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001362 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001508 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001511 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001519 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001558 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001631 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001654 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001671 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001760 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0001762 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0002007 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0002144 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0002162 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0002205 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0002553 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0030680 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0002650 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0002714 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0002715 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0002750 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0002808 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0003312 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0003363 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0003468 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0005264 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0006655 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0006703 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0006709 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0007360 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0007385 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0008551 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0008830 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0009778 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0009890 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0010109 ORPHA:280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0010864 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0100022 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0100790 ORPHA:280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome HP:0000501 ORPHA:2818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome HP:0001249 ORPHA:2818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome HP:0001257 ORPHA:2818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome HP:0010550 ORPHA:2818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0000953 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0001025 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0001053 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0001257 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0001288 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0001347 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0002167 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0002353 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2819 Spastic paraplegia-facial-cutaneous lesions syndrome HP:0010550 ORPHA:2819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000023 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000218 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000252 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000286 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000308 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000311 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000316 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000368 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000384 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000431 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000470 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0000494 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0001252 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0001511 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0001608 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0001620 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0030680 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0002650 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0002757 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0004322 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0004348 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0005692 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0006101 ORPHA:281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0010864 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0011344 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0200046 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281 Monosomy 5p HP:0200055 ORPHA:281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0001029 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0002064 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0003400 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0003693 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0007020 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0007108 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0007141 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0011457 ORPHA:2821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001250 ORPHA:488635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001252 ORPHA:488635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0011344 ORPHA:488635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000750 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001265 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001321 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001388 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001510 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001999 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0002066 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0002079 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0002141 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0030047 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0031936 ORPHA:488635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000219 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000316 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000445 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000540 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0000729 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001187 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001272 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001344 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001511 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001763 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0002069 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0002329 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0003394 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0005280 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0007258 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0008081 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0010510 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0011193 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0011968 ORPHA:488635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001256 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001268 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001328 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002079 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002191 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002385 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0003477 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0007141 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0007178 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0007340 ORPHA:2822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000639 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000708 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000712 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000736 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001152 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001251 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001260 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001288 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002015 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002120 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002354 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002540 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0003445 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0003482 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0006913 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0006956 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0007350 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0030455 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0030890 ORPHA:2822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000486 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000505 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000546 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000709 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0000726 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001004 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001250 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001278 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001300 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001513 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0001761 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002071 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0002650 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0003693 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0006827 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0007183 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0009055 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0025058 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0025502 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2822 Autosomal recessive spastic paraplegia type 11 HP:0045007 ORPHA:2822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000340 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000347 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000348 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000483 ORPHA:2824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000508 ORPHA:2824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000639 ORPHA:2824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000982 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001156 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001166 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001231 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001249 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001257 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001258 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001347 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0001348 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0002061 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0002209 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0003189 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0005692 ORPHA:2824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0010579 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0010620 ORPHA:2824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001319 ORPHA:488632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0003323 ORPHA:488632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0003444 ORPHA:488632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0006829 ORPHA:488632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000280 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000750 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001250 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001284 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001315 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001999 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002079 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002093 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002119 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002283 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002518 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002540 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0003119 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0003202 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0011344 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0031165 ORPHA:488632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000158 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000256 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000286 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000337 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000340 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000414 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000574 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000767 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000821 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000939 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001007 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001629 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002045 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002376 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002650 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002705 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002750 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0009826 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0010804 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0011198 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0100288 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0100543 ORPHA:488632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000011 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000028 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000252 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000303 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000343 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000407 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000431 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000470 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000486 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000490 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000582 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000639 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000664 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000717 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000824 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000836 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000878 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000964 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001500 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001540 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001562 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001642 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0001837 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0002099 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0004691 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0005487 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0007302 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0007957 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0011734 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0012547 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0030084 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0001260 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0001348 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0002342 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0007020 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0008185 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2826 Spastic paraplegia-precocious puberty syndrome HP:0010791 ORPHA:2826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0002063 ORPHA:2828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000716 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000738 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000741 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0001337 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0002172 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0100660 ORPHA:2828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000551 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000726 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000735 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000736 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000739 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0001257 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0001332 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0001347 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0002014 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0002018 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0002019 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0002067 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0002141 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0002578 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0003394 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0004409 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0012332 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0012452 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0025269 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0030014 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0040307 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0100543 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0100785 ORPHA:2828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000651 ORPHA:2828 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000713 ORPHA:2828 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0000727 ORPHA:2828 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2828 Young-onset Parkinson disease HP:0100710 ORPHA:2828 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002470 ORPHA:314978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0000486 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0001152 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0001270 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0001320 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0001321 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002078 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002080 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002312 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002317 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002345 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002359 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0002464 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0008935 ORPHA:314978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0001249 ORPHA:314978 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:314978 X-linked non progressive cerebellar ataxia HP:0003487 ORPHA:314978 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0000365 ORPHA:276198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0001251 ORPHA:276198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0001260 ORPHA:276198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002070 ORPHA:276198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002078 ORPHA:276198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0000514 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0000622 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0001308 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0001310 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002355 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002380 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0003202 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0003487 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0007001 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0012473 ORPHA:276198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0000508 ORPHA:276198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0001347 ORPHA:276198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0000651 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002015 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002076 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002080 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002321 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002346 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002378 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0002607 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0007018 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276198 Spinocerebellar ataxia type 36 HP:0045084 ORPHA:276198 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0012382 ORPHA:99104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0031297 ORPHA:99104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0001962 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002875 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0003546 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0010772 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0012378 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0031634 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0031664 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0031687 ORPHA:99104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002092 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002094 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002326 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0005115 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0005133 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0011675 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0011710 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0030718 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0031972 ORPHA:99104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0000961 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0001279 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0001297 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0001708 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002090 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0002718 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99104 Atrial septal defect, coronary sinus type HP:0005317 ORPHA:99104 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0012382 ORPHA:99105 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0001962 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0002875 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0003546 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0010772 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0012378 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0031546 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0031663 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0031664 ORPHA:99105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0001692 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0002092 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0002094 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0004749 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0004755 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0005110 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0005115 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0005133 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0005180 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0006699 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0011700 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0011705 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0011712 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0011716 ORPHA:99105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0001297 ORPHA:99105 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0001635 ORPHA:99105 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0001907 ORPHA:99105 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99105 Atrial septal defect, sinus venosus type HP:0006536 ORPHA:99105 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0001653 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0001712 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0001962 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0002205 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0002875 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0004927 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0005133 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0005180 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0011705 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0011712 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0012248 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0012378 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0031595 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0031658 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0031662 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0031664 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0031687 ORPHA:99106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0000961 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0001279 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0001508 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0001635 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0001678 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0001694 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0001907 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0002092 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0002094 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0002105 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0002789 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0003546 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0004749 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0005110 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0002795 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0006536 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0012398 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0030718 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0031295 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0100759 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99106 Atrial septal defect, ostium primum type HP:0100760 ORPHA:99106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0000093 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0000112 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0000407 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0001249 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0001257 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0001288 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0001347 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0002167 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0010550 ORPHA:2820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0000822 ORPHA:2820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0003510 ORPHA:2820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome HP:0004209 ORPHA:2820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000086 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000175 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000232 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000252 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000324 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000347 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000365 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000384 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000402 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000407 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000431 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000463 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000465 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000470 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000482 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000486 ORPHA:233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000490 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000496 ORPHA:233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000508 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000526 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000567 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000581 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000612 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000615 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000639 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000643 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0000646 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0001053 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0001156 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0001177 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0001199 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0001250 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0001263 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0001357 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0001762 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0002162 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0030680 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0002984 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0003202 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0003298 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0003312 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0003974 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0005640 ORPHA:233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0007400 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0007766 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0007818 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0007990 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0008572 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0009601 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0011365 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0011386 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0012246 ORPHA:233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0012385 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0012732 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:233 Duane retraction syndrome HP:0012745 ORPHA:233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0004870 ORPHA:232 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0001878 ORPHA:232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0002719 ORPHA:232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0012531 ORPHA:232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0000939 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0001743 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0001891 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0001894 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0001923 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0001974 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0002754 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0010885 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0011981 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0100749 ORPHA:232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0000707 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0001396 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0002597 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0003259 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0008282 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0011904 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0012418 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0025435 ORPHA:232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0001931 ORPHA:232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0001935 ORPHA:232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:232 Sickle cell anemia HP:0005518 ORPHA:232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000028 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000047 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000055 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000126 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000154 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000164 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000176 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000218 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000238 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000252 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000260 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000270 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000275 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000286 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000294 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000316 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000340 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000347 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000365 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000368 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000411 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000486 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000506 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000508 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000518 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000545 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000581 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000639 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000684 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000767 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000829 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000958 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000960 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000964 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000965 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0000992 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001000 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001156 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001231 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001249 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001250 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001363 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001511 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001770 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001773 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001800 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001840 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001852 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001873 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001874 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0001903 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002024 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002025 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002028 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002035 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002093 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002099 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002209 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002213 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0030680 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002650 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002664 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002665 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002719 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0002750 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0003298 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0004209 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0004322 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0005280 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0005338 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0005692 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0006721 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0007018 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0007370 ORPHA:235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0008897 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0009601 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0009602 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0009738 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0009891 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0011304 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:235 Dubowitz syndrome HP:0200055 ORPHA:235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0000952 ORPHA:234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0001080 ORPHA:234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0001392 ORPHA:234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0001928 ORPHA:234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0001945 ORPHA:234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0002027 ORPHA:234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0002240 ORPHA:234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0002908 ORPHA:234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0004295 ORPHA:234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0012086 ORPHA:234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:234 Dubin-Johnson syndrome HP:0012378 ORPHA:234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form HP:0000639 ORPHA:280224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form HP:0003429 ORPHA:280224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form HP:0001285 ORPHA:280224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form HP:0002342 ORPHA:280224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280224 Pelizaeus-Merzbacher disease, transitional form HP:0010864 ORPHA:280224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0000988 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0000989 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0001369 ORPHA:231 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0001371 ORPHA:231 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0001376 ORPHA:231 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0001482 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0002014 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0002017 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0008066 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0011134 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0100326 ORPHA:231 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0100658 ORPHA:231 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0100758 ORPHA:231 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0100838 ORPHA:231 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231 Dracunculiasis HP:0200042 ORPHA:231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001278 ORPHA:230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001488 ORPHA:230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0011979 ORPHA:230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0012384 ORPHA:230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001279 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001315 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001903 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001943 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002360 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0003138 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0003259 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0009020 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0012378 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0012877 ORPHA:230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0000017 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0000622 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001252 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0001944 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002013 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002014 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002045 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002094 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0002321 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0003115 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0012670 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0100749 ORPHA:230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0000842 ORPHA:230 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:230 Dopamine beta-hydroxylase deficiency HP:0000855 ORPHA:230 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2807 Papilloma of choroid plexus HP:0000238 ORPHA:2807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2807 Papilloma of choroid plexus HP:0000505 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2807 Papilloma of choroid plexus HP:0001250 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2807 Papilloma of choroid plexus HP:0001276 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2807 Papilloma of choroid plexus HP:0002664 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2807 Papilloma of choroid plexus HP:0004374 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2807 Papilloma of choroid plexus HP:0012639 ORPHA:2807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2807 Papilloma of choroid plexus HP:0100543 ORPHA:2807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2807 Papilloma of choroid plexus HP:0200022 ORPHA:2807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2808 Laryngeal abductor paralysis HP:0001601 ORPHA:2808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2808 Laryngeal abductor paralysis HP:0002093 ORPHA:2808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0003323 ORPHA:399096 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0009053 ORPHA:399096 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0002355 ORPHA:399096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0002515 ORPHA:399096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0003552 ORPHA:399096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0009046 ORPHA:399096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0030234 ORPHA:399096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0003693 ORPHA:399096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0003707 ORPHA:399096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0008997 ORPHA:399096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0009073 ORPHA:399096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0003201 ORPHA:399096 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:399096 Distal anoctaminopathy HP:0009049 ORPHA:399096 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0000311 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0000768 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0000962 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0001072 ORPHA:2812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0001182 ORPHA:2812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0001510 ORPHA:2812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0002093 ORPHA:2812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0002230 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0004322 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0006596 ORPHA:2812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0006610 ORPHA:2812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2812 Parana hard skin syndrome HP:0007440 ORPHA:2812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0000135 ORPHA:2815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0000407 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0000505 ORPHA:2815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0000518 ORPHA:2815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0000639 ORPHA:2815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0001251 ORPHA:2815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0001288 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0001347 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0002313 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0004322 ORPHA:2815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0004374 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0007328 ORPHA:2815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2815 Spastic paraparesis-deafness syndrome HP:0100022 ORPHA:2815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0000965 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0001297 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0001640 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0001643 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0001659 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0001677 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0002616 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0002647 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0002875 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0004933 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0004944 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0004959 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0005162 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0004950 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0004950 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0004950 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0012163 ORPHA:229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0012499 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0012763 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0100749 ORPHA:229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229 Familial aortic dissection HP:0200146 ORPHA:229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0000639 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0000750 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001251 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001256 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001263 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0006808 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0011203 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0031936 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0040330 ORPHA:280219 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001252 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001257 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001285 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0001332 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002167 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002305 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002346 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002355 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002421 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0007256 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0007377 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0008936 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0025336 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0030187 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0100543 ORPHA:280219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002071 ORPHA:280219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0002310 ORPHA:280219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280219 Pelizaeus-Merzbacher disease, classic form HP:0031954 ORPHA:280219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226 Dihydropteridine reductase deficiency HP:0000252 ORPHA:226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226 Dihydropteridine reductase deficiency HP:0001249 ORPHA:226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226 Dihydropteridine reductase deficiency HP:0001263 ORPHA:226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226 Dihydropteridine reductase deficiency HP:0002015 ORPHA:226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0000083 ORPHA:225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0000093 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0000407 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0000488 ORPHA:225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0000505 ORPHA:225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0000518 ORPHA:225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0000532 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0000544 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0000822 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0001251 ORPHA:225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0001324 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0001635 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0001639 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0002019 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0002024 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0003119 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0003326 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0005978 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0007360 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0007754 ORPHA:225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0011675 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225 Maternally-inherited diabetes and deafness HP:0100820 ORPHA:225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0000048 ORPHA:227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0000119 ORPHA:227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0100599 ORPHA:227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0000047 ORPHA:227 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0002023 ORPHA:227 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0008706 ORPHA:227 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0030275 ORPHA:227 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0100600 ORPHA:227 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0000023 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0000028 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0000039 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0000073 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0000075 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0000085 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0001627 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0001631 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0002836 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0003172 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0004712 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0008669 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0010475 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0011024 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0011140 ORPHA:227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0002650 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0002937 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0003316 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0004792 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0005223 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227 Diphallia HP:0009777 ORPHA:227 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:222 Erosive pustular dermatosis of the scalp HP:0001595 ORPHA:222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:222 Erosive pustular dermatosis of the scalp HP:0004552 ORPHA:222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:222 Erosive pustular dermatosis of the scalp HP:0010783 ORPHA:222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:222 Erosive pustular dermatosis of the scalp HP:0200039 ORPHA:222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:222 Erosive pustular dermatosis of the scalp HP:0200041 ORPHA:222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0000492 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0000934 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0000958 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0000969 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0000989 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0000992 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001063 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001252 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001369 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001597 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001608 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001618 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001658 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001701 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001824 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001879 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0001945 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0002092 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0002093 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0002205 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0002206 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0002207 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0002633 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0002664 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0002665 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0002829 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0002960 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0003002 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0003326 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0003457 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0003701 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0006530 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0008065 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0008872 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0009071 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0010783 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0011362 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0011675 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0011703 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0012378 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0012819 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0030078 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0100539 ORPHA:221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0100585 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0100658 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0100723 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0100758 ORPHA:221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0200034 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221 Dermatomyositis HP:0200042 ORPHA:221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0004322 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0011106 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0011968 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0001263 ORPHA:223 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0001561 ORPHA:223 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0010677 ORPHA:223 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0009806 ORPHA:223 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0003158 ORPHA:223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0003228 ORPHA:223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0004906 ORPHA:223 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0001508 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0001945 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0001959 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0002017 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0002019 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0002039 ORPHA:223 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0000009 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0000072 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0000083 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0001250 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:223 Nephrogenic diabetes insipidus HP:0001510 ORPHA:223 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0003134 ORPHA:280234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0003429 ORPHA:280234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0007108 ORPHA:280234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0011096 ORPHA:280234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0000762 ORPHA:280234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0001251 ORPHA:280234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0002355 ORPHA:280234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0007020 ORPHA:280234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0000648 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0001317 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0002342 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0002478 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0002540 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0012758 ORPHA:280234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280234 Null syndrome HP:0000639 ORPHA:280234 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:220 Denys-Drash syndrome HP:0000037 ORPHA:220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220 Denys-Drash syndrome HP:0000093 ORPHA:220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220 Denys-Drash syndrome HP:0000100 ORPHA:220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220 Denys-Drash syndrome HP:0000112 ORPHA:220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220 Denys-Drash syndrome HP:0002667 ORPHA:220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220 Denys-Drash syndrome HP:0000822 ORPHA:220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220 Denys-Drash syndrome HP:0000133 ORPHA:220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0002936 ORPHA:399081 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0003458 ORPHA:399081 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0006466 ORPHA:399081 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0009005 ORPHA:399081 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0009063 ORPHA:399081 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0001430 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0002166 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0002355 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0003376 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0006844 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0006937 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0008954 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0009031 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0040081 ORPHA:399081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0003438 ORPHA:399081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0003477 ORPHA:399081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:399081 KLHL9-related early-onset distal myopathy HP:0002505 ORPHA:399081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000028 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000135 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000164 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000176 ORPHA:178303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000252 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000298 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000327 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000343 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000369 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000377 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000431 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000457 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000470 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000506 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0045075 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000581 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000653 ORPHA:178303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0001263 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0001363 ORPHA:178303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0001376 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0001852 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0002553 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0005288 ORPHA:178303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0006101 ORPHA:178303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0006610 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0008577 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0009738 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0010720 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0010781 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0100024 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0100490 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0100679 ORPHA:178303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0002312 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0002355 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0002936 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0003376 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0003458 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0003805 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0008180 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0008954 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0009005 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0009031 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0009063 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0009473 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0012548 ORPHA:399086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0001171 ORPHA:399086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0009073 ORPHA:399086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399086 Finnish upper limb-onset distal myopathy HP:0001638 ORPHA:399086 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0000164 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0000256 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0000365 ORPHA:2801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0000648 ORPHA:2801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0000768 ORPHA:2801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0000822 ORPHA:2801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0000889 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0000939 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0000995 ORPHA:2801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0001482 ORPHA:2801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0002149 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0002757 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0004322 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0004437 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0006487 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0007703 ORPHA:2801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2801 Juvenile Paget disease HP:0100670 ORPHA:2801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0000639 ORPHA:2802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001251 ORPHA:2802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001903 ORPHA:2802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0002167 ORPHA:2802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001263 ORPHA:2802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001347 ORPHA:2802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0100022 ORPHA:2802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0000486 ORPHA:2802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001252 ORPHA:2802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0001511 ORPHA:2802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia HP:0002650 ORPHA:2802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0000176 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0000316 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0000455 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0000494 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0000506 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0001061 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0001137 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0001257 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0001263 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0001761 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0001763 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0001840 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0002069 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0002967 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0002986 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0003022 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0003042 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0005280 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0006293 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0010809 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0011220 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0012385 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0030084 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0100037 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2804 W syndrome HP:0100268 ORPHA:2804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0002362 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0003691 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0008948 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0008956 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0009055 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0010628 ORPHA:219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0000982 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0000989 ORPHA:218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0001000 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0001034 ORPHA:218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0001072 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0001595 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0001597 ORPHA:218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0005212 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0008410 ORPHA:218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0010612 ORPHA:218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0012733 ORPHA:218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0200016 ORPHA:218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:218 Darier disease HP:0200037 ORPHA:218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0005306 ORPHA:168984 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0031487 ORPHA:168984 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0001052 ORPHA:168984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0001528 ORPHA:168984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0001548 ORPHA:168984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0100764 ORPHA:168984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0000324 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0001004 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0001508 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0002619 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0004099 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0012721 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0100553 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0100554 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0100555 ORPHA:168984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0000098 ORPHA:168984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0000767 ORPHA:168984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0000774 ORPHA:168984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0003005 ORPHA:168984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168984 CLAPO syndrome HP:0001249 ORPHA:168984 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0000639 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0000666 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001252 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0000011 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0000316 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0000490 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001268 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001273 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001288 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001347 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0001510 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002061 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002167 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002197 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002313 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002355 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002376 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0002540 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0003429 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0003487 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0007413 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0010936 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0011342 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0011343 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0011800 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0030784 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0030890 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0032044 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280229 Pelizaeus-Merzbacher disease in female carriers HP:0032588 ORPHA:280229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0000545 ORPHA:215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0000662 ORPHA:215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0007663 ORPHA:215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0030469 ORPHA:215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0000486 ORPHA:215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0000639 ORPHA:215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0030638 ORPHA:215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0030639 ORPHA:215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0000540 ORPHA:215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0007984 ORPHA:215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0030483 ORPHA:215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0031705 ORPHA:215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0000551 ORPHA:215 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0007703 ORPHA:215 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:215 Congenital stationary night blindness HP:0030329 ORPHA:215 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:214 Cystinuria HP:0000083 ORPHA:214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:214 Cystinuria HP:0000787 ORPHA:214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:214 Cystinuria HP:0000790 ORPHA:214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:214 Cystinuria HP:0002149 ORPHA:214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:214 Cystinuria HP:0004337 ORPHA:214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217 Isolated Dandy-Walker malformation HP:0000175 ORPHA:217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217 Isolated Dandy-Walker malformation HP:0000269 ORPHA:217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217 Isolated Dandy-Walker malformation HP:0001305 ORPHA:217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217 Isolated Dandy-Walker malformation HP:0001626 ORPHA:217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217 Isolated Dandy-Walker malformation HP:0001636 ORPHA:217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217 Isolated Dandy-Walker malformation HP:0002007 ORPHA:217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217 Isolated Dandy-Walker malformation HP:0002084 ORPHA:217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217 Isolated Dandy-Walker malformation HP:0002691 ORPHA:217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217 Isolated Dandy-Walker malformation HP:0007370 ORPHA:217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001332 ORPHA:255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0000708 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001288 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001337 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0000712 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002063 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002355 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002360 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002540 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0003785 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0010553 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0031959 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0040207 ORPHA:255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0000716 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0000722 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0000736 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0000737 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0000739 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0000756 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0000975 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001250 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001254 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001260 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001270 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001300 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001350 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002013 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002019 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002071 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002119 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002172 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002370 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002375 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002376 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002421 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0002493 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0003473 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0003781 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0007325 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0008936 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0011344 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0012378 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0012433 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0012531 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0012704 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0025269 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001263 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0031960 ORPHA:255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0000020 ORPHA:255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001298 ORPHA:255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0001945 ORPHA:255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0010818 ORPHA:255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:255 Dopa-responsive dystonia HP:0012448 ORPHA:255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0000597 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0000602 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0001596 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0001804 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0001812 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0002300 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0002381 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0002381 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0003198 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0010529 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0010547 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0012246 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0200037 ORPHA:257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0000508 ORPHA:257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0000682 ORPHA:257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0004334 ORPHA:257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0008065 ORPHA:257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0200034 ORPHA:257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0003473 ORPHA:257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy HP:0012378 ORPHA:257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:256 Early-onset generalized limb-onset dystonia HP:0001276 ORPHA:256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:256 Early-onset generalized limb-onset dystonia HP:0001288 ORPHA:256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:256 Early-onset generalized limb-onset dystonia HP:0001608 ORPHA:256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:256 Early-onset generalized limb-onset dystonia HP:0003011 ORPHA:256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:256 Early-onset generalized limb-onset dystonia HP:0100022 ORPHA:256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000098 ORPHA:300373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000845 ORPHA:300373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000870 ORPHA:300373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0012503 ORPHA:300373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0030269 ORPHA:300373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000280 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000975 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0001072 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0002591 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0002893 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0004924 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0008283 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0010535 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0025163 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0025267 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0031098 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0031418 ORPHA:300373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000135 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000699 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000823 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000873 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000924 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000956 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0001123 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0001176 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0001250 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0001251 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0001626 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0001833 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0002315 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0003270 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0011748 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0012505 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0040075 ORPHA:300373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0000707 ORPHA:300373 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:300373 X-linked acrogigantism HP:0001249 ORPHA:300373 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000028 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000133 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000252 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000278 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000280 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000286 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000316 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000320 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000411 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000482 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000483 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000486 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000509 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000519 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000545 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000546 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000565 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000601 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000608 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000613 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000639 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000656 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000670 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000938 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000958 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000964 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0000992 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001097 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001197 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001217 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001257 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001260 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001263 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001265 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001276 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001290 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001338 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001363 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001373 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001511 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001537 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001598 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001618 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001629 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001638 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001807 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001808 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001809 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001875 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001903 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002066 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002080 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002119 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002120 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002197 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002209 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002293 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002299 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002562 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002705 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002719 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002750 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002828 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002860 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0002942 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0003079 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0003139 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0006297 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0006538 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0006970 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0007034 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0007256 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0007266 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0007381 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0007495 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0007485 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0007587 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0007633 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0008064 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0008386 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0008391 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0008619 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0009830 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0010551 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0011001 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0012760 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0001263 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0025428 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0025548 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0045055 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0100275 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33364 Trichothiodystrophy HP:0410219 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0000958 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0001231 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0002213 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0006323 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0008388 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0000685 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0000966 ORPHA:248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0001595 ORPHA:248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0001596 ORPHA:248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia HP:0006482 ORPHA:248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0010734 ORPHA:249 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000929 ORPHA:249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002797 ORPHA:249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0003330 ORPHA:249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0009121 ORPHA:249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0040064 ORPHA:249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000277 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000326 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002148 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002653 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002748 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002753 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002756 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002823 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0003155 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0005731 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0006487 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0010657 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0010668 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0011821 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0031955 ORPHA:249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000772 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000889 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002355 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002650 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002696 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002749 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002812 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002818 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002992 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0040071 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0003063 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0003319 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0004302 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0004322 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0006316 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0009911 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0012294 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0040163 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0100559 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0100712 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0430000 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0430022 ORPHA:249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000138 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000365 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000572 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000818 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000819 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000836 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0000845 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002669 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0002890 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0003072 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0003118 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0003401 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0005605 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0007565 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0010465 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0010514 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0010788 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0030428 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:249 Fibrous dysplasia of bone HP:0100013 ORPHA:249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0000389 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0000403 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0001742 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0002257 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0002643 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0003251 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0005425 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0011109 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0011947 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0012206 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0031245 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0032016 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0100582 ORPHA:244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0000119 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0000365 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0000405 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0000750 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0000924 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0001217 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0001627 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0001696 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0002011 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0002110 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0006536 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0008222 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0011274 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0011617 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0025177 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0030680 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0030828 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0032543 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0100750 ORPHA:244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0000238 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0000510 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0001669 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0001719 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0001746 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0001748 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0002119 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0002566 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0002878 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0005301 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0010772 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0011535 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0011539 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244 Primary ciliary dyskinesia HP:0025576 ORPHA:244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0000133 ORPHA:243 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0008209 ORPHA:243 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0008209 ORPHA:243 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0000144 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0000786 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0000823 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0000837 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0008214 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0009888 ORPHA:243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0000938 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0002225 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0002750 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0004349 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0005625 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0008684 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0010311 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0010464 ORPHA:243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0000365 ORPHA:243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0000869 ORPHA:243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0001939 ORPHA:243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0004322 ORPHA:243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0000252 ORPHA:243 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0001166 ORPHA:243 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0001251 ORPHA:243 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0002206 ORPHA:243 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:243 46,XX gonadal dysgenesis HP:0000062 ORPHA:243 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0000175 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0000272 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0000347 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0000368 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0000370 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0000378 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0000405 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0000486 ORPHA:246 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0000494 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0000625 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0002558 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0030680 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0002984 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0003022 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0006101 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0007477 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0007651 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0008551 ORPHA:246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0100335 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:246 Postaxial acrofacial dysostosis HP:0100490 ORPHA:246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000122 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000154 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000174 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000175 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000327 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000347 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000365 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000368 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000413 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000494 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000508 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000652 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0000750 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0001199 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0001387 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0002093 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0030680 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0002652 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0002814 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0002984 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0005105 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0006501 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0007776 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0008551 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0009601 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0009829 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0010669 ORPHA:245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0100335 ORPHA:245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:245 Nager syndrome HP:0100840 ORPHA:245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0000431 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0000944 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0001156 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0001191 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0001387 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0001804 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002644 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002683 ORPHA:240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002818 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002823 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002857 ORPHA:240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002970 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002982 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002983 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002984 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002986 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0002992 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0040071 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0003022 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0003027 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0003031 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0003042 ORPHA:240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0003063 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0003067 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0003272 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0004209 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0005019 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0005280 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0005736 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0005930 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0006248 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0006443 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0006459 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0008873 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0010579 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0010624 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240 Léri-Weill dyschondrosteosis HP:0100777 ORPHA:240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228277 Familial anetoderma HP:0200034 ORPHA:228277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228277 Familial anetoderma HP:0002705 ORPHA:228277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228277 Familial anetoderma HP:0002761 ORPHA:228277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228277 Familial anetoderma HP:0002938 ORPHA:228277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228277 Familial anetoderma HP:0002992 ORPHA:228277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228277 Familial anetoderma HP:0040079 ORPHA:228277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:242 46,XY complete gonadal dysgenesis HP:0000037 ORPHA:242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:242 46,XY complete gonadal dysgenesis HP:0000044 ORPHA:242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:242 46,XY complete gonadal dysgenesis HP:0000147 ORPHA:242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:242 46,XY complete gonadal dysgenesis HP:0008715 ORPHA:242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:241 Dyschromatosis universalis hereditaria HP:0000365 ORPHA:241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:241 Dyschromatosis universalis hereditaria HP:0000992 ORPHA:241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:241 Dyschromatosis universalis hereditaria HP:0001034 ORPHA:241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:241 Dyschromatosis universalis hereditaria HP:0001053 ORPHA:241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:241 Dyschromatosis universalis hereditaria HP:0001480 ORPHA:241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:241 Dyschromatosis universalis hereditaria HP:0004322 ORPHA:241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:241 Dyschromatosis universalis hereditaria HP:0005590 ORPHA:241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:241 Dyschromatosis universalis hereditaria HP:0007565 ORPHA:241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:241 Dyschromatosis universalis hereditaria HP:0012733 ORPHA:241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0011763 ORPHA:300385 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0000870 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0002315 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0003154 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0006767 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0008291 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0100836 ORPHA:300385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0007663 ORPHA:300385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0007987 ORPHA:300385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0012377 ORPHA:300385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0012505 ORPHA:300385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0040075 ORPHA:300385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0000365 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0000845 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0001251 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0010514 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0011442 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0011760 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0100561 ORPHA:300385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0000873 ORPHA:300385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0011759 ORPHA:300385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:300385 Pituitary carcinoma HP:0011762 ORPHA:300385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0012363 ORPHA:263494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0001315 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0001324 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0001644 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0001763 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0002187 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0002401 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0002910 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0003487 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0003560 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0003749 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0003805 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0008331 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0008981 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263494 DPM3-CDG HP:0100749 ORPHA:263494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0011354 ORPHA:167635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0031047 ORPHA:167635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0200034 ORPHA:167635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0000271 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0000464 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0001072 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0001155 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0002015 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0002056 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0002829 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0002973 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0003198 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0003236 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0003701 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0011838 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0025512 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0030053 ORPHA:167635 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0000077 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0000160 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0000989 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0001250 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0001298 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0001626 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0002020 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0002088 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0002460 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0002875 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0003326 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0008509 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0011024 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0011805 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0030178 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0030880 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0100771 ORPHA:167635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0001259 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0001297 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0002326 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0006704 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0006775 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0030966 ORPHA:167635 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:167635 Scleromyxedema HP:0002926 ORPHA:167635 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0010541 ORPHA:357225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0000290 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0000519 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0001250 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0001263 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0002171 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0006889 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0006970 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0030455 ORPHA:357225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0000252 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0001298 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0001629 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0001631 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0002650 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0007663 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0010562 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0000365 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0000389 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0000988 ORPHA:33355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0001508 ORPHA:33355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0001824 ORPHA:33355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0001874 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0001882 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0001903 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0001944 ORPHA:33355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0001945 ORPHA:33355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0002014 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0002024 ORPHA:33355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0002205 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0003287 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0004313 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0004430 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0005374 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0010515 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0100806 ORPHA:33355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33355 Reticular dysgenesis HP:0200042 ORPHA:33355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0000039 ORPHA:237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0000047 ORPHA:237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0000076 ORPHA:237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0012732 ORPHA:237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0000010 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0000020 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0000041 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0000048 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0000054 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0001153 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0001543 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0002023 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0003244 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0003762 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0008635 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0008665 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0008706 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0008743 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0010447 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0012227 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0012531 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0012583 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0025407 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0025489 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0100518 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:237 Duplication of urethra HP:0100519 ORPHA:237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000248 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000252 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000316 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000400 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000411 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000470 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000490 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000494 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000615 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000678 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0000960 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0001156 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0001249 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0001263 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0001800 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0001804 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0002650 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0002714 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0002808 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0004209 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0005105 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0006610 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0007477 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0007598 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0011079 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0100335 ORPHA:236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:236 Trisomy 9p HP:0100798 ORPHA:236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001249 ORPHA:239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001508 ORPHA:239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002651 ORPHA:239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003521 ORPHA:239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000252 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000280 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000470 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000768 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000885 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000925 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000926 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000946 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001270 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002355 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002652 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002656 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003026 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003090 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003183 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003272 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003274 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003368 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003510 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003690 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0004568 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0005106 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0006429 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0008786 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0008905 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0010306 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0010864 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0031233 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0040163 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0100255 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000750 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000752 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001256 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001285 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001347 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001377 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0001538 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002359 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002465 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002540 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002747 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002788 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002812 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0002857 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003028 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003066 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003311 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003467 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0003698 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0004242 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0006633 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0031987 ORPHA:239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000365 ORPHA:239 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0007957 ORPHA:239 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0012379 ORPHA:239 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:228240 Elastoderma HP:0200034 ORPHA:228240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228240 Elastoderma HP:0200036 ORPHA:228240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228240 Elastoderma HP:0100963 ORPHA:228240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228240 Elastoderma HP:0000964 ORPHA:228240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228240 Elastoderma HP:0001055 ORPHA:228240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228240 Elastoderma HP:0000973 ORPHA:228240 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:228240 Elastoderma HP:0100678 ORPHA:228240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0003027 ORPHA:97360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0004322 ORPHA:97360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000316 ORPHA:97360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0001518 ORPHA:97360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0003086 ORPHA:97360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0003241 ORPHA:97360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0005011 ORPHA:97360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000028 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000046 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000054 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000059 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000060 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000126 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000187 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000202 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000207 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000212 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000256 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000343 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000347 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000358 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000369 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000454 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000455 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000463 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000520 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000668 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000678 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000689 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000692 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000902 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000921 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0001156 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0001159 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0001627 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0001629 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0001631 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0001642 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0001680 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0001792 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0002007 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0002164 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0002650 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0002751 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0002937 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0003196 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0005280 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0006439 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0009611 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0009882 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0009890 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0010296 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0010297 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0010882 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0011662 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0011800 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0030039 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0030264 ORPHA:97360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000003 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0000410 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0001537 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0006291 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0006335 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0012758 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97360 Robinow syndrome HP:0040171 ORPHA:97360 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0002573 ORPHA:209964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0002027 ORPHA:209964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0002254 ORPHA:209964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0012450 ORPHA:209964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0500005 ORPHA:209964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0000002 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0000722 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0001903 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0002035 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0002574 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0004325 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0012390 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0012702 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0025085 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0025086 ORPHA:209964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209964 Solitary rectal ulcer syndrome HP:0012425 ORPHA:209964 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0000256 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0000589 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0000750 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0000855 ORPHA:199276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0001250 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0001548 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0001702 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0002079 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0002119 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0002514 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0002885 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0006487 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0003077 ORPHA:199276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0009830 ORPHA:199276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0005249 ORPHA:199276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0005616 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0006337 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0009125 ORPHA:199276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0009126 ORPHA:199276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0010603 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0012424 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199276 Familial multiple lipomatosis HP:0100702 ORPHA:199276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000750 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001252 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001270 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001382 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001511 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001773 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0200055 ORPHA:254531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000826 ORPHA:254531 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001513 ORPHA:254531 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0008897 ORPHA:254531 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0011220 ORPHA:254531 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0011968 ORPHA:254531 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000218 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000322 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000347 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000403 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000445 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000729 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000735 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000817 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0001249 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0002650 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0003124 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0004673 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0004904 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0007010 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0008947 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation HP:0030084 ORPHA:254531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0000089 ORPHA:97362 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0000076 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0000093 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0000107 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0000822 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0001562 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0002009 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0011968 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0012213 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0012622 ORPHA:97362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0000028 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0000483 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0000540 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0000639 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0000969 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0001254 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0001508 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0001510 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0001518 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0001622 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0001903 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0001942 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0002153 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0002643 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0002902 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0002907 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0003076 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0004322 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0012758 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0025466 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97362 Renal hypoplasia, bilateral HP:0100520 ORPHA:97362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000750 ORPHA:263487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0001270 ORPHA:263487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0008947 ORPHA:263487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000252 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000358 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000369 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000448 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0004322 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0010864 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000011 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000020 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000028 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000054 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000218 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000278 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000407 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000431 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000470 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000486 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000599 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0000729 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0001250 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0001256 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0001272 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0001348 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0001433 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0001511 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0001562 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0002078 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0002240 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0002342 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0002506 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0002857 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0002910 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0003160 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0006956 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0007366 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0009473 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0011471 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0012444 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0012448 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0012762 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0040019 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0100490 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0100678 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263487 COG5-CDG HP:0100704 ORPHA:263487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001256 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001263 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001561 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0005257 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0006267 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0006665 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0008872 ORPHA:254534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001252 ORPHA:254534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001520 ORPHA:254534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001540 ORPHA:254534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0002033 ORPHA:254534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0008897 ORPHA:254534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001518 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001537 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001539 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001548 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001627 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001629 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0002194 ORPHA:254534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178333 Åland Islands eye disease HP:0000483 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178333 Åland Islands eye disease HP:0000512 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178333 Åland Islands eye disease HP:0000545 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178333 Åland Islands eye disease HP:0000551 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178333 Åland Islands eye disease HP:0000639 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178333 Åland Islands eye disease HP:0007663 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178333 Åland Islands eye disease HP:0007750 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178333 Åland Islands eye disease HP:0007894 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178333 Åland Islands eye disease HP:0030513 ORPHA:178333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0001618 ORPHA:399058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0002015 ORPHA:399058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0009063 ORPHA:399058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0000467 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0001265 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003325 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003327 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003458 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003557 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003736 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0009027 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0030225 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0040081 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0100020 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0100299 ORPHA:399058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0001349 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0001638 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0002355 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0002747 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0003552 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399058 Alpha-B crystallin-related late-onset myopathy HP:0009073 ORPHA:399058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000253 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000347 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000938 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001263 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001290 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001321 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001344 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001508 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001999 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002058 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002123 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002421 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002650 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0003236 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0003642 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0005781 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0007179 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0011169 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0200134 ORPHA:329178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000218 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000219 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000243 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000294 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000486 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000601 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000648 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000689 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001561 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0001976 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002002 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002098 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002205 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002240 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002518 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0002910 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0003196 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0003241 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0010851 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0012762 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0040288 ORPHA:329178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0001300 ORPHA:97355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0002063 ORPHA:97355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0002067 ORPHA:97355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0000511 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0000571 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0000726 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0000727 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0000738 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0001278 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0001332 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0001336 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0002119 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0002120 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0002172 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0002186 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0002193 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0002345 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0002360 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0012332 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0003458 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0005341 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0007045 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0007240 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0010549 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0012753 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0030902 ORPHA:97355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97355 Caribbean parkinsonism HP:0100315 ORPHA:97355 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0000613 ORPHA:209967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0001251 ORPHA:209967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0002017 ORPHA:209967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0002321 ORPHA:209967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0002183 ORPHA:209967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0000640 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0000651 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0001250 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0001272 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0001350 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0002076 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0002301 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0002315 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209967 Episodic ataxia type 6 HP:0007663 ORPHA:209967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001249 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001263 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001347 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001371 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002460 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002540 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002987 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0006380 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0006466 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0007350 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0012453 ORPHA:209951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000154 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000158 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001257 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001344 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002079 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0003487 ORPHA:209951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000218 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000322 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000377 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000574 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000664 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0000666 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001250 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0001583 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002015 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002166 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0002378 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0003273 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0003306 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0005830 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0005997 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0011448 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209951 Autosomal recessive spastic paraplegia type 18 HP:0100712 ORPHA:209951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199267 Infantile digital fibromatosis HP:0200036 ORPHA:199267 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:199267 Infantile digital fibromatosis HP:0000962 ORPHA:199267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199267 Infantile digital fibromatosis HP:0001036 ORPHA:199267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199267 Infantile digital fibromatosis HP:0025092 ORPHA:199267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199267 Infantile digital fibromatosis HP:0012531 ORPHA:199267 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0000010 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0000509 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0000613 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0000962 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0001369 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0001386 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0001387 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0001597 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0001659 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0001701 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0001824 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0001945 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0002014 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0002027 ORPHA:29207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0002037 ORPHA:29207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0002093 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0002103 ORPHA:29207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0002206 ORPHA:29207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0002754 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0002829 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0008391 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0011107 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0100543 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0100686 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0100773 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29207 Reactive arthritis HP:0200039 ORPHA:29207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0000750 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001252 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001270 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001773 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0008897 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0200055 ORPHA:254525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001319 ORPHA:254525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001511 ORPHA:254525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0011220 ORPHA:254525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0000119 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0000347 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0000368 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0000826 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001249 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001513 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0001627 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0002714 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0004482 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0007010 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0008872 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0030084 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion HP:0031878 ORPHA:254525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001263 ORPHA:254528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001561 ORPHA:254528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0005257 ORPHA:254528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0006665 ORPHA:254528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0011968 ORPHA:254528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000023 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001371 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001388 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001537 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001540 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0002878 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0006267 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0008897 ORPHA:254528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000126 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000158 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000194 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000278 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000286 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000337 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000341 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000463 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000565 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000767 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000884 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0000954 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001239 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001252 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001539 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001601 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001845 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0002263 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0005280 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0005989 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0010511 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0012385 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0012785 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0045025 ORPHA:254528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001511 ORPHA:254528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0001270 ORPHA:314918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0001328 ORPHA:314918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0002465 ORPHA:314918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0011342 ORPHA:314918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0012379 ORPHA:314918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0000256 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0000510 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0000750 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0001250 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0001252 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0001347 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0002421 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0002493 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0003487 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0012751 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314918 Mild Canavan disease HP:0040196 ORPHA:314918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0012379 ORPHA:171706 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0002925 ORPHA:171706 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0031506 ORPHA:171706 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0032210 ORPHA:171706 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0000508 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0000736 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0001249 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0001510 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0001513 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0002750 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0003162 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0003391 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0004322 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0008994 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0009053 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0012548 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0031903 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0040214 ORPHA:171706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0001274 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0001321 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0002098 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0002119 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0002126 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0002719 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0011451 ORPHA:171703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0000572 ORPHA:209959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0200026 ORPHA:209959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0500081 ORPHA:209959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0000491 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0000613 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0000615 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0000622 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0007773 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0011488 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0012122 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0012123 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0025337 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0030953 ORPHA:209959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0004327 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0007906 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0007917 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0008030 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0011484 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0011505 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0011531 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0011886 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0012040 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0012121 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0025341 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0025561 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0030485 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0030486 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0031615 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0031618 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209959 Phacoanaphylactic uveitis HP:0040049 ORPHA:209959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0000256 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001252 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001263 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001270 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001344 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0002421 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0002540 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0004302 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0025053 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0025405 ORPHA:314911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0000648 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0000737 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001250 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001254 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001347 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001387 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001612 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0002013 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0002020 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0002033 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0002069 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0002360 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0003487 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0011968 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0012762 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0200136 ORPHA:314911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0000618 ORPHA:314911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001257 ORPHA:314911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0001355 ORPHA:314911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0040288 ORPHA:314911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0002200 ORPHA:314911 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0011471 ORPHA:314911 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314911 Severe Canavan disease HP:0025013 ORPHA:314911 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002322 ORPHA:97349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0001945 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002067 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002329 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002396 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002465 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0003324 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0003487 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0004305 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0007256 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0010553 ORPHA:97349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0000194 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0000496 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0000514 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0000716 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0001250 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0001260 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0001488 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002013 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002015 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002063 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002304 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002315 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002381 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002374 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002795 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0002808 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0003401 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0005329 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0006801 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0006919 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0008765 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0011446 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0012735 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0025331 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0025456 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0030188 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0040082 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0045007 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0100595 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97349 Postencephalitic parkinsonism HP:0200149 ORPHA:97349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0000591 ORPHA:209956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0002922 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0004328 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0007663 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0012231 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0025339 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0030823 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0031526 ORPHA:209956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0000568 ORPHA:209956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0000622 ORPHA:209956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0001123 ORPHA:209956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0008052 ORPHA:209956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0012508 ORPHA:209956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209956 Idiopathic uveal effusion syndrome HP:0012632 ORPHA:209956 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:211 Familial cylindromatosis HP:0001482 ORPHA:211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:211 Familial cylindromatosis HP:0100585 ORPHA:211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0000093 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0000112 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0000124 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0000613 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0000733 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0000821 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0000823 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0001324 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0001508 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0001944 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0001959 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0002013 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0002148 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0002900 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0003198 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0003355 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0004322 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0007957 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0009806 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0012378 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0100651 ORPHA:213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0000083 ORPHA:213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0000488 ORPHA:213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0002748 ORPHA:213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0000505 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0001256 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0001288 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0001409 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0001945 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0002024 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0002381 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0006824 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:213 Cystinosis HP:0007256 ORPHA:213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000505 ORPHA:98673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000648 ORPHA:98673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000407 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000551 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000602 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0007141 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0012511 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0025514 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0030515 ORPHA:98673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000508 ORPHA:98673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000603 ORPHA:98673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001251 ORPHA:98673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001288 ORPHA:98673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0003198 ORPHA:98673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000135 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000518 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000639 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000726 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000738 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000819 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0000821 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001250 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001257 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001258 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001263 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001269 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001272 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001284 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001761 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0001972 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0002015 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0002076 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0002135 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0002518 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0003202 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0003326 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0003691 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0007366 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0007371 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0009921 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0011968 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0012378 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0030319 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98673 Autosomal dominant optic atrophy, classic form HP:0100543 ORPHA:98673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:212 Cystathioninuria HP:0003153 ORPHA:212 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:212 Cystathioninuria HP:0001249 ORPHA:212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:212 Cystathioninuria HP:0001250 ORPHA:212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:212 Cystathioninuria HP:0003286 ORPHA:212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:212 Cystathioninuria HP:0000787 ORPHA:212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:212 Cystathioninuria HP:0001337 ORPHA:212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:212 Cystathioninuria HP:0001762 ORPHA:212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:212 Cystathioninuria HP:0008572 ORPHA:212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97341 Persistent placoid maculopathy HP:0007663 ORPHA:97341 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:97341 Persistent placoid maculopathy HP:0011506 ORPHA:97341 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:97341 Persistent placoid maculopathy HP:0001103 ORPHA:97341 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97341 Persistent placoid maculopathy HP:0000646 ORPHA:97341 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97341 Persistent placoid maculopathy HP:0007750 ORPHA:97341 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97341 Persistent placoid maculopathy HP:0007814 ORPHA:97341 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97341 Persistent placoid maculopathy HP:0010822 ORPHA:97341 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97341 Persistent placoid maculopathy HP:0012508 ORPHA:97341 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199251 Ledderhose disease HP:0001482 ORPHA:199251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199251 Ledderhose disease HP:0002829 ORPHA:199251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199251 Ledderhose disease HP:0003401 ORPHA:199251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199251 Ledderhose disease HP:0009830 ORPHA:199251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199251 Ledderhose disease HP:0100679 ORPHA:199251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209981 IRIDA syndrome HP:0000980 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209981 IRIDA syndrome HP:0001249 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209981 IRIDA syndrome HP:0002242 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209981 IRIDA syndrome HP:0008064 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209981 IRIDA syndrome HP:0009830 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209981 IRIDA syndrome HP:0001406 ORPHA:209981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209981 IRIDA syndrome HP:0011967 ORPHA:209981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209981 IRIDA syndrome HP:0000962 ORPHA:209981 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0000316 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0001156 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0001371 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0001552 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0002515 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0002650 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0002829 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0002857 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0002945 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0002967 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0003037 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0003312 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0003521 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0008905 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0009811 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0010582 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0010585 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0045075 ORPHA:263463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0000337 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0000343 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0000684 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0001270 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0002553 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0002751 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0010049 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263463 CHST3-related skeletal dysplasia HP:0030680 ORPHA:263463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0000826 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0001270 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0001518 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0001773 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0008897 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0008947 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0200055 ORPHA:254516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0000750 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0001256 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0001513 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0001622 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0004322 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0004482 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0008872 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0011968 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0040288 ORPHA:254516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0000028 ORPHA:254516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0002591 ORPHA:254516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0002650 ORPHA:254516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0005978 ORPHA:254516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0000193 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0000238 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0000307 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0000824 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0001988 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0002007 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0004209 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254516 Temple syndrome HP:0007429 ORPHA:254516 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0000289 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0000293 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0000347 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0000463 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0000465 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0000470 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001249 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001263 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001376 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001561 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001591 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0002015 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0002033 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0002421 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0004887 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0005257 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0005280 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0006267 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0006665 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0011968 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0025336 ORPHA:254519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0000205 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0000581 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001520 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001539 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001540 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001601 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001622 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0002007 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0002019 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0002673 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0002751 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0011335 ORPHA:254519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0000023 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001548 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001626 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0002884 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0008551 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0008897 ORPHA:254519 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254519 Kagami-Ogata syndrome HP:0001250 ORPHA:254519 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0000016 ORPHA:254509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0000217 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0000508 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0001278 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0001324 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0002015 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0002019 ORPHA:254509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0002094 ORPHA:254509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0006597 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0006824 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0011499 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0012378 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254509 Iatrogenic botulism HP:0100021 ORPHA:254509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000253 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001249 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001344 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001508 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002540 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0011344 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0011968 ORPHA:481152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000327 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000369 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000411 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000414 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001250 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001257 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001999 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002013 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002079 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002376 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0003202 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0003429 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0007258 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001252 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0030890 ORPHA:481152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000218 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000233 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000316 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000319 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000325 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000341 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000343 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000365 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000396 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000400 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000463 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000494 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000565 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000582 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000639 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000718 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000737 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000768 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000924 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001166 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001251 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001274 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001347 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001371 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0001382 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002069 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002283 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002355 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002365 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002465 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002509 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0002827 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0005072 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0005659 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0006460 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0010055 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0011166 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0011229 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0011304 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy HP:0100704 ORPHA:481152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0009810 ORPHA:97336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0040188 ORPHA:97336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0001377 ORPHA:97336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0001386 ORPHA:97336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0002996 ORPHA:97336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0003063 ORPHA:97336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0030835 ORPHA:97336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0001871 ORPHA:97336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0003945 ORPHA:97336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0025259 ORPHA:97336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97336 Panner disease HP:0030865 ORPHA:97336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000189 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000238 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000248 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000262 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000316 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000327 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000348 ORPHA:207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000365 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000405 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000444 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000453 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000486 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000508 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000509 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000520 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000612 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000646 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000648 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000929 ORPHA:207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000956 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0000995 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0001053 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0001321 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0001999 ORPHA:207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0002007 ORPHA:207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0002093 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0002308 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0002315 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0002516 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0005107 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0011324 ORPHA:207 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0011386 ORPHA:207 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:207 Crouzon syndrome HP:0011800 ORPHA:207 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97335 Osgood-Schlatter disease HP:0030839 ORPHA:97335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97335 Osgood-Schlatter disease HP:0002355 ORPHA:97335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97335 Osgood-Schlatter disease HP:0003045 ORPHA:97335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97335 Osgood-Schlatter disease HP:0003066 ORPHA:97335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97335 Osgood-Schlatter disease HP:0006456 ORPHA:97335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97335 Osgood-Schlatter disease HP:0009046 ORPHA:97335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97335 Osgood-Schlatter disease HP:0002362 ORPHA:97335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97335 Osgood-Schlatter disease HP:0030866 ORPHA:97335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0000726 ORPHA:204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002529 ORPHA:204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0006790 ORPHA:204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0012672 ORPHA:204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0030890 ORPHA:204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0000708 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0001251 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0001289 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0001336 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002059 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002100 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002171 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002354 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002367 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002446 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002521 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002719 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002922 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0004887 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0100543 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0100806 ORPHA:204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0000505 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0001257 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002071 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0002493 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0003487 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0006801 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:204 Sporadic Creutzfeldt-Jakob disease HP:0007256 ORPHA:204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0000238 ORPHA:137817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0000360 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0000365 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0000478 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0000504 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0000763 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0000970 ORPHA:137817 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0001265 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0001287 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0001324 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0002076 ORPHA:137817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0002829 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0002839 ORPHA:137817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0003401 ORPHA:137817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137817 Arachnoiditis HP:0012378 ORPHA:137817 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0000238 ORPHA:97339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001977 ORPHA:97339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0004947 ORPHA:97339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0008629 ORPHA:97339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0030724 ORPHA:97339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0000256 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0000501 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0000504 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0000520 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0000572 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0000932 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001085 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001268 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001297 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001317 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001324 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001342 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002017 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002138 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002170 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002196 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002315 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002370 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002463 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002516 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0003474 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0007906 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0011342 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0011695 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0012375 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0031157 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0100309 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:3000043 ORPHA:97339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0000651 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0000726 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0000741 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001250 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001251 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001269 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0001300 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002167 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002181 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002273 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0002617 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0006824 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0007333 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0011343 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97339 Dural sinus malformation HP:0030766 ORPHA:97339 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0000365 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0000597 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0000952 ORPHA:205 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0001250 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0001252 ORPHA:205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0001254 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0001392 ORPHA:205 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0002321 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0002354 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0002383 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:205 Crigler-Najjar syndrome HP:0100543 ORPHA:205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97337 Sinding-Larsen-Johansson disease HP:0030839 ORPHA:97337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97337 Sinding-Larsen-Johansson disease HP:0001386 ORPHA:97337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97337 Sinding-Larsen-Johansson disease HP:0010501 ORPHA:97337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97337 Sinding-Larsen-Johansson disease HP:0040188 ORPHA:97337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97337 Sinding-Larsen-Johansson disease HP:0002661 ORPHA:97337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0000035 ORPHA:202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0000135 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0000407 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0000478 ORPHA:202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0001596 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0002213 ORPHA:202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0002231 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0002299 ORPHA:202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0003777 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0008736 ORPHA:202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:202 Crandall syndrome HP:0100840 ORPHA:202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000036 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000077 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000130 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000158 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000218 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000221 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000256 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000365 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000518 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000545 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000717 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000767 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000771 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000820 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000853 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000982 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0000995 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0001048 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0001053 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0001156 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0001249 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0001250 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0001251 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0001263 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0001317 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0001482 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0001508 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0002516 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0002650 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0002664 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0002808 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0002858 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0002861 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0003002 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0004322 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0004390 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0005374 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0005584 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0005595 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0006731 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0007565 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0008069 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0008675 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0009720 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0010614 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0012032 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0012062 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0012114 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0012733 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0012740 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0100006 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0100031 ORPHA:201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0100543 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0100579 ORPHA:201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0100780 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0200034 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:201 Cowden syndrome HP:0200063 ORPHA:201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0011744 ORPHA:199244 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0011749 ORPHA:199244 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0003118 ORPHA:199244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0008291 ORPHA:199244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0012030 ORPHA:199244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0000505 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0000822 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0001065 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0002900 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0005978 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0007340 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0007440 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0007924 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0030521 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0030591 ORPHA:199244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0000830 ORPHA:199244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0002516 ORPHA:199244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0007807 ORPHA:199244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0009050 ORPHA:199244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0012246 ORPHA:199244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0000870 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0000873 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0002170 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0010788 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0011763 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0200026 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199244 Nelson syndrome HP:0430022 ORPHA:199244 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97332 Kienbock disease HP:0001376 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97332 Kienbock disease HP:0002653 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97332 Kienbock disease HP:0002758 ORPHA:97332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97332 Kienbock disease HP:0002829 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97332 Kienbock disease HP:0003019 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97332 Kienbock disease HP:0010885 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97332 Kienbock disease HP:0010886 ORPHA:97332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0000825 ORPHA:263458 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0001943 ORPHA:263458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0001988 ORPHA:263458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0008283 ORPHA:263458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0030794 ORPHA:263458 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0001250 ORPHA:263458 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0012378 ORPHA:263458 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0000855 ORPHA:263458 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263458 Hyperinsulinism due to INSR deficiency HP:0001259 ORPHA:263458 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0000763 ORPHA:97330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0000772 ORPHA:97330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0000969 ORPHA:97330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0001324 ORPHA:97330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0002619 ORPHA:97330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0002829 ORPHA:97330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0003326 ORPHA:97330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0003394 ORPHA:97330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0003401 ORPHA:97330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0003457 ORPHA:97330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97330 Thoracic outlet syndrome HP:0004936 ORPHA:97330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000093 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000713 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000825 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000842 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000975 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0000980 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001249 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001250 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001254 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001259 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001319 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001337 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002240 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001520 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001649 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001985 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001994 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0001998 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002013 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002014 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002329 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002344 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0002910 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0003076 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0003155 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0003162 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0004324 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0004359 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0004510 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0004912 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0005979 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0006568 ORPHA:263455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263455 Hyperinsulinism due to HNF4A deficiency HP:0012378 ORPHA:263455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0002716 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0005954 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0025104 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0025179 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0030879 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0045051 ORPHA:199241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0000961 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0001708 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0002094 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0002105 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0002875 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0004890 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0010741 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0012151 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0012418 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0025180 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0025420 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0030968 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0100721 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0100759 ORPHA:199241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0002202 ORPHA:199241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0100598 ORPHA:199241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0001698 ORPHA:199241 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0003493 ORPHA:199241 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:199241 Pulmonary capillary hemangiomatosis HP:0032230 ORPHA:199241 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0001260 ORPHA:209970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0001324 ORPHA:209970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0002131 ORPHA:209970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0002321 ORPHA:209970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0000639 ORPHA:209970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0000360 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0000651 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0002076 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0002411 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0002487 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209970 Episodic ataxia type 7 HP:0100543 ORPHA:209970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0002090 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0002094 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0002098 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0002113 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0002789 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0002878 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0011112 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0011227 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0012418 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0030783 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0032094 ORPHA:178320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0000969 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0001735 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0001945 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0002105 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0006530 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0011118 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0025420 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0030955 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0031273 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178320 Acute lung injury HP:0100806 ORPHA:178320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0000016 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0000217 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0000508 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0000651 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0001324 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0002014 ORPHA:254504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0002017 ORPHA:254504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0002019 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0002094 ORPHA:254504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0003470 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0006824 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0011499 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254504 Inhalational botulism HP:0012378 ORPHA:254504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000256 ORPHA:457485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001249 ORPHA:457485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001355 ORPHA:457485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001250 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001263 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001328 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001520 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001999 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002007 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002119 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002167 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002197 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002212 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0007359 ORPHA:457485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000028 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000154 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000194 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000316 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000343 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000486 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000729 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000752 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000957 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001028 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001053 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001252 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001273 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001288 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001538 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001540 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001763 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002099 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002126 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0004789 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0005257 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0011220 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0025104 ORPHA:457485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000047 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000331 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000494 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0001998 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0002720 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0005266 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0005280 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0012393 ORPHA:457485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0002751 ORPHA:65759 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001156 ORPHA:65759 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001770 ORPHA:65759 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0006101 ORPHA:65759 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0000028 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0000263 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0000929 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001159 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001249 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001363 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001513 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0003241 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0010442 ORPHA:65759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0000262 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0000481 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001162 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001841 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0002676 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0002857 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0011304 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0012243 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0030680 ORPHA:65759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001537 ORPHA:65759 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001643 ORPHA:65759 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001748 ORPHA:65759 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65759 Carpenter syndrome HP:0001762 ORPHA:65759 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141091 Polyrrhinia HP:0009934 ORPHA:141091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141091 Polyrrhinia HP:0010938 ORPHA:141091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141091 Polyrrhinia HP:0010939 ORPHA:141091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141091 Polyrrhinia HP:0000202 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141091 Polyrrhinia HP:0000316 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141091 Polyrrhinia HP:0002056 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141091 Polyrrhinia HP:0002693 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141091 Polyrrhinia HP:0006956 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141091 Polyrrhinia HP:0010951 ORPHA:141091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0012382 ORPHA:99103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001962 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002875 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0003546 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0012378 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0030718 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0031664 ORPHA:99103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001633 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001635 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001653 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002092 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002094 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0004749 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0004755 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005110 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005115 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005133 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005162 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005180 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005957 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0010741 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0011675 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0011705 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0011710 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0012250 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0012764 ORPHA:99103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0000961 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001279 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001297 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0001708 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002090 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002326 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0002718 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0005317 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99103 Atrial septal defect, ostium secundum type HP:0006536 ORPHA:99103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000248 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000256 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000316 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000337 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000348 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000365 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000505 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000648 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0001363 ORPHA:178377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0002315 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0002516 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0002684 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0010628 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0011001 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0011342 ORPHA:178377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0012802 ORPHA:178377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001249 ORPHA:137831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001263 ORPHA:137831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001321 ORPHA:137831 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000486 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000490 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000729 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000735 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000817 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001251 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001252 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001290 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001999 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002119 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002123 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002167 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002342 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002384 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002465 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002951 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0010864 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0400000 ORPHA:137831 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000303 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000431 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0000448 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002080 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002172 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002280 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0002340 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0006817 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0006913 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0006951 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0007018 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0007112 ORPHA:137831 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000154 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000280 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000316 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000322 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000431 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000490 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0001061 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0001072 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0001156 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0001634 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0002797 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0005280 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0010885 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0012471 ORPHA:137834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000212 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000303 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000337 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000348 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000411 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000494 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000684 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0005916 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0001387 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0002650 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0002808 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0002816 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0004209 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0004568 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0006480 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0100490 ORPHA:137834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000023 ORPHA:137834 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0000771 ORPHA:137834 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137834 Frank-Ter Haar syndrome HP:0001537 ORPHA:137834 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000245 ORPHA:141099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0012806 ORPHA:141099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000625 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0002011 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0002119 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0009932 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0011821 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0012372 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0032039 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0430023 ORPHA:141099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000202 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000218 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000256 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000316 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000337 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000343 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000534 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000567 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000579 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000609 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000612 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000614 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0001273 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0001360 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0003241 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0007957 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0009117 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0040296 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0430005 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:3000030 ORPHA:141099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000122 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000286 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000453 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000482 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000486 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000508 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000518 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000520 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000528 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000568 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0000588 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0001144 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0001629 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0001643 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0005580 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0007946 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0009914 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0012300 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141099 Proboscis lateralis HP:0012738 ORPHA:141099 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84090 Fibronectin glomerulopathy HP:0000083 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84090 Fibronectin glomerulopathy HP:0000093 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84090 Fibronectin glomerulopathy HP:0000100 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84090 Fibronectin glomerulopathy HP:0000822 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84090 Fibronectin glomerulopathy HP:0001342 ORPHA:84090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84090 Fibronectin glomerulopathy HP:0001966 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84090 Fibronectin glomerulopathy HP:0002907 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84090 Fibronectin glomerulopathy HP:0003073 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84090 Fibronectin glomerulopathy HP:0010741 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84090 Fibronectin glomerulopathy HP:0100820 ORPHA:84090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141096 Supernumerary nostril HP:0009934 ORPHA:141096 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:141096 Supernumerary nostril HP:0000271 ORPHA:141096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141096 Supernumerary nostril HP:0002006 ORPHA:141096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141096 Supernumerary nostril HP:0000453 ORPHA:141096 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141096 Supernumerary nostril HP:0000482 ORPHA:141096 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141096 Supernumerary nostril HP:0000519 ORPHA:141096 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:141096 Supernumerary nostril HP:3000040 ORPHA:141096 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0009830 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0011951 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0011968 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0030680 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0031282 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0031423 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000062 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000126 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000218 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000413 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000486 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000518 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000878 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001305 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001894 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002126 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002139 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002937 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0003298 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0004626 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0006934 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0008110 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0008221 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0010497 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0011326 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0011409 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0012725 ORPHA:79500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000212 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000343 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000431 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000463 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001167 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001231 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001263 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001780 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001817 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002353 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0008388 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0012810 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0100797 ORPHA:79500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000179 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000194 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000219 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000280 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000286 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000294 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000316 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000369 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000414 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000474 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001265 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001561 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002033 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002069 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002384 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002714 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0004209 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0008947 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0009237 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0009882 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0010347 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0012402 ORPHA:79500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000079 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000121 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000164 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000175 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000187 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000189 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000200 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000248 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000252 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000269 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000455 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000545 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000648 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000675 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000687 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000696 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000729 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0000851 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001199 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001336 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001488 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0001719 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002007 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002020 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0002098 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0004442 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79500 DOORS syndrome HP:0005306 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0000972 ORPHA:79501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0000982 ORPHA:79501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0011124 ORPHA:79501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0045059 ORPHA:79501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0025092 ORPHA:79501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0025114 ORPHA:79501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0040162 ORPHA:79501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0002861 ORPHA:79501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0003002 ORPHA:79501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0012500 ORPHA:79501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0012531 ORPHA:79501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0100751 ORPHA:79501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0002671 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0002860 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0005584 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0006725 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0008404 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0010622 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0012125 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0012126 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0012189 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0030692 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0040274 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0040276 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79501 Punctate palmoplantar keratoderma type 1 HP:0100526 ORPHA:79501 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000028 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000076 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000098 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000126 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000175 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000218 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000268 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000276 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000316 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000347 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000365 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000377 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000400 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000411 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000445 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000455 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000463 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000470 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000486 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000490 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000772 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0000774 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0001010 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0001053 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0001274 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0001376 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0001869 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0002007 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0002342 ORPHA:96061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0030680 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0002650 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0002804 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0003275 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0003422 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0004209 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0004322 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0006191 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0006443 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0007957 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0008734 ORPHA:96061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0009738 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96061 Mosaic trisomy 8 HP:0100490 ORPHA:96061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3294 Extensor tendons of finger anomalies HP:0000991 ORPHA:3294 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3294 Extensor tendons of finger anomalies HP:0001012 ORPHA:3294 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3294 Extensor tendons of finger anomalies HP:0100490 ORPHA:3294 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3294 Extensor tendons of finger anomalies HP:0000939 ORPHA:3294 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3294 Extensor tendons of finger anomalies HP:0001376 ORPHA:3294 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3294 Extensor tendons of finger anomalies HP:0003202 ORPHA:3294 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183713 Bacterial susceptibility due to TLR signaling pathway deficiency HP:0001945 ORPHA:183713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183713 Bacterial susceptibility due to TLR signaling pathway deficiency HP:0002721 ORPHA:183713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183713 Bacterial susceptibility due to TLR signaling pathway deficiency HP:0005406 ORPHA:183713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0003125 ORPHA:35909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0003225 ORPHA:35909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0003645 ORPHA:35909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0008151 ORPHA:35909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0000225 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0000421 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0000978 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0006298 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0011889 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0030137 ORPHA:35909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0000132 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0000790 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0002170 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0002239 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0004846 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0005261 ORPHA:35909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0002149 ORPHA:35909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35909 Combined deficiency of factor V and factor VIII HP:0003077 ORPHA:35909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84085 Hinman syndrome HP:0000010 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84085 Hinman syndrome HP:0000076 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84085 Hinman syndrome HP:0000083 ORPHA:84085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84085 Hinman syndrome HP:0000126 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84085 Hinman syndrome HP:0000805 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84085 Hinman syndrome HP:0002019 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84085 Hinman syndrome HP:0002607 ORPHA:84085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0000089 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0000108 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0000822 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0001395 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0001396 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0001409 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0001433 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0001959 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0002910 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0003155 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0003573 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0004719 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0005565 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0006563 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0006571 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0012591 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0012622 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0020132 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0032581 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0032622 ORPHA:84081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0000713 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0000718 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0001394 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0001541 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0001903 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0002040 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0002500 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0002506 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0002612 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0003774 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0007018 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0012163 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0012585 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84081 Senior-Boichis syndrome HP:0031589 ORPHA:84081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0008138 ORPHA:178382 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0001436 ORPHA:178382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0001771 ORPHA:178382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0001838 ORPHA:178382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0008081 ORPHA:178382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0030311 ORPHA:178382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0000707 ORPHA:178382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0001763 ORPHA:178382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0005684 ORPHA:178382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0025238 ORPHA:178382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0002475 ORPHA:178382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0030268 ORPHA:178382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178382 Congenital vertical talus HP:0030840 ORPHA:178382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0001394 ORPHA:209919 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0025321 ORPHA:209919 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0001397 ORPHA:209919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0010839 ORPHA:209919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0032254 ORPHA:209919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209919 Idiopathic copper-associated cirrhosis HP:0010837 ORPHA:209919 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0000211 ORPHA:3299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0002015 ORPHA:3299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0002179 ORPHA:3299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0003552 ORPHA:3299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0040212 ORPHA:3299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0001276 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0001649 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0001945 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0002063 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0005363 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0011355 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0011964 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0025258 ORPHA:3299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0000822 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0001259 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0001337 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0001662 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0002027 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0002098 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0002501 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0002607 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0002789 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0003236 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0003345 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0003639 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0005341 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0006824 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0012332 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0025145 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3299 Tetanus HP:0025425 ORPHA:3299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0000579 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0000620 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0001742 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0009926 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0012763 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0030215 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0030829 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:3000066 ORPHA:141083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0000646 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0001945 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0002033 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0002719 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0004411 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0004885 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0007651 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0007717 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0010307 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0025337 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0025612 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0030752 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0030864 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0045025 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0100539 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0100658 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141083 Nasolacrimal duct cyst HP:0200026 ORPHA:141083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0000511 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0001260 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0001310 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0001347 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002066 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002075 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002080 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002136 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002167 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002168 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002313 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0002317 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0004302 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423275 Spinocerebellar ataxia type 40 HP:0006879 ORPHA:423275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183707 Neutrophil immunodeficiency syndrome HP:0001058 ORPHA:183707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183707 Neutrophil immunodeficiency syndrome HP:0001974 ORPHA:183707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183707 Neutrophil immunodeficiency syndrome HP:0002721 ORPHA:183707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183707 Neutrophil immunodeficiency syndrome HP:0011990 ORPHA:183707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0008163 ORPHA:199299 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0011735 ORPHA:199299 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0011748 ORPHA:199299 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001254 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001324 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001508 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001824 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002014 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002017 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002019 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002027 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002039 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002615 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002920 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002960 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0012378 ORPHA:199299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0000872 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0008209 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001897 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001972 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002149 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002902 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0011134 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0100647 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0100651 ORPHA:199299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0000829 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0000958 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001045 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001250 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001278 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001880 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0001943 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002321 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002608 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002829 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0003072 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0006462 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0012115 ORPHA:199299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002893 ORPHA:199299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0100806 ORPHA:199299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199299 Late-onset isolated ACTH deficiency HP:0002153 ORPHA:199299 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000100 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000164 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000217 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000246 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000327 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000463 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000958 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000962 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000963 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000964 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0000966 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0001097 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0001508 ORPHA:238468 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0001597 ORPHA:238468 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0001999 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0002007 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0002217 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0004298 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0006482 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0007400 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0009804 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0009886 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0010978 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0011358 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0011362 ORPHA:238468 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0012471 ORPHA:238468 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0012735 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0100533 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0100543 ORPHA:238468 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0100783 ORPHA:238468 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238468 Hypohidrotic ectodermal dysplasia HP:0100840 ORPHA:238468 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3283 His bundle tachycardia HP:0001638 ORPHA:3283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3283 His bundle tachycardia HP:0011675 ORPHA:3283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3283 His bundle tachycardia HP:0011716 ORPHA:3283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3283 His bundle tachycardia HP:0100544 ORPHA:3283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0001998 ORPHA:199296 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0008163 ORPHA:199296 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0011735 ORPHA:199296 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0000835 ORPHA:199296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0002615 ORPHA:199296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0002902 ORPHA:199296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0012378 ORPHA:199296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0002173 ORPHA:199296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0006579 ORPHA:199296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0012115 ORPHA:199296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199296 Congenital isolated ACTH deficiency HP:0002153 ORPHA:199296 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0000648 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0000750 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001251 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001256 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001257 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001260 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001266 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001285 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001288 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001332 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001347 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001508 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002015 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002066 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002167 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002273 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002376 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0003487 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0006999 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0007374 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0007811 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0008947 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0012758 ORPHA:225154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001276 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0001336 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002020 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002063 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002359 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002396 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002446 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0003484 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0006799 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0002505 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0007340 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0007688 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225154 Familial infantile bilateral striatal necrosis HP:0012697 ORPHA:225154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0000464 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0000707 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0000822 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0001297 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0002621 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0031910 ORPHA:494424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0000819 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0001269 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0001609 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0001727 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0001977 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0002138 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0002381 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0002633 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0002634 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0002637 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0003484 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0003549 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0005160 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0006824 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0012089 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0012531 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0031690 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0032169 ORPHA:494424 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0002721 ORPHA:494424 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0002960 ORPHA:494424 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0005313 ORPHA:494424 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:494424 Extracranial carotid artery aneurysm HP:0032271 ORPHA:494424 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0000988 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0001392 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0001903 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0002015 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0002017 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0002019 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0002239 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0005214 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0006753 ORPHA:44890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0007378 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0007400 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0012378 ORPHA:44890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0100242 ORPHA:44890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0100273 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0100723 ORPHA:44890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0100743 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0100751 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:44890 Gastrointestinal stromal tumor HP:0100833 ORPHA:44890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0000776 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0001166 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0001371 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0001376 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0001582 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0001654 ORPHA:171719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0002097 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171719 Cutis laxa-Marfanoid syndrome HP:0002827 ORPHA:171719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0002643 ORPHA:217563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0002789 ORPHA:217563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0006517 ORPHA:217563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0006530 ORPHA:217563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0002092 ORPHA:217563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0002113 ORPHA:217563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0031457 ORPHA:217563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0001667 ORPHA:217563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0004876 ORPHA:217563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0006515 ORPHA:217563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0006528 ORPHA:217563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia HP:0001279 ORPHA:3286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia HP:0001645 ORPHA:3286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia HP:0002321 ORPHA:3286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia HP:0004756 ORPHA:3286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0000488 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0000822 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0000975 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001250 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001324 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001369 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001482 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001639 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001646 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001654 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001658 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001824 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001903 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0001945 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0002039 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0002076 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0002092 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0002105 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0002167 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0002617 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0002633 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0002637 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0002793 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0002829 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0003326 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0004306 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0004372 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0004970 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0005244 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0012378 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0012649 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0100533 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0100545 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0100576 ORPHA:3287 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0100735 ORPHA:3287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0100749 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0100758 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3287 Takayasu arteritis HP:0200042 ORPHA:3287 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0007663 ORPHA:209943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0007906 ORPHA:209943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0100832 ORPHA:209943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0000501 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0000541 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0000613 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0000622 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0000648 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0001147 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0007917 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209943 IRVAN syndrome HP:0040049 ORPHA:209943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000003 ORPHA:3270 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000164 ORPHA:3270 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000174 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000256 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000268 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000275 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000364 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000411 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000426 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000448 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000486 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000670 ORPHA:3270 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000767 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0001252 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0001263 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0001288 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0002167 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0002974 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0003011 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0007477 ORPHA:3270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0000708 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0000718 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0000750 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0001249 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0001263 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0001999 ORPHA:300305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0000319 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0000343 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0000358 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0000400 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0000463 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0000664 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0001176 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0001250 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0001513 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0002553 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0011094 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300305 11p15.4 microduplication syndrome HP:0012389 ORPHA:300305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001263 ORPHA:263410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002134 ORPHA:263410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0012697 ORPHA:263410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0000711 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0000737 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001250 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001251 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001260 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001289 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001332 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001347 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002273 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002329 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002465 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0007105 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0007185 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0012747 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0030215 ORPHA:263410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0000494 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002093 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002133 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0002510 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0004302 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0008947 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0012469 ORPHA:263410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001999 ORPHA:84064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0002041 ORPHA:84064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0002224 ORPHA:84064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0002721 ORPHA:84064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000316 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000337 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000431 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001256 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001263 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001392 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001394 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001395 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001511 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001518 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0002240 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0002299 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0003139 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0004322 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0005599 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0009886 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0011121 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0011220 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0011473 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0025156 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0030056 ORPHA:84064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000957 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000958 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001627 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001888 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001894 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0002583 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0002719 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0005263 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0011031 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0011877 ORPHA:84064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000023 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000089 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000113 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000501 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000778 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0000821 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001629 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001631 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001636 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001643 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001647 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001659 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0001744 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0002884 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0004969 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0007513 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84064 Syndromic diarrhea HP:0025085 ORPHA:84064 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0001388 ORPHA:486815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002747 ORPHA:486815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003458 ORPHA:486815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0007502 ORPHA:486815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000218 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000467 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000767 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000958 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0001270 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0001290 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002020 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002205 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002421 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002650 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003306 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003557 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003687 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003690 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0003789 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0010647 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0011471 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0011968 ORPHA:486815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000028 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000750 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0000823 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0001612 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0002828 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0008081 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0008180 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0025502 ORPHA:486815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0000639 ORPHA:423296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0001260 ORPHA:423296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0002066 ORPHA:423296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0002355 ORPHA:423296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0000514 ORPHA:423296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0001272 ORPHA:423296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0003474 ORPHA:423296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0009830 ORPHA:423296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0002460 ORPHA:423296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0000708 ORPHA:423296 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:423296 Spinocerebellar ataxia type 38 HP:0001337 ORPHA:423296 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000008 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000028 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000126 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000160 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000175 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000189 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000235 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000252 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000268 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000269 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000275 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000286 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000308 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000316 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000325 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000337 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000348 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000368 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000453 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000465 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000482 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000501 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000518 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000568 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000581 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000612 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000772 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0000776 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001162 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001252 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001263 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001276 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001360 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001510 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001511 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001539 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001562 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001629 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0001631 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0002023 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0002032 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0002308 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0002323 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0002414 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0030680 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0002750 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0002814 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0002817 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0003196 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0003272 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0003275 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0004097 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0004322 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0004326 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0007370 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0007477 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0007598 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0007703 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0008388 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0009891 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0009914 ORPHA:3380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0010935 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0100335 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0100490 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0100543 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0100790 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3380 Trisomy 18 HP:0100810 ORPHA:3380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0000256 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0000286 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0000298 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0000494 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0000717 ORPHA:238446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0000722 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0000750 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0001249 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0001250 ORPHA:238446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0001251 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0001252 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0001263 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0002186 ORPHA:238446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0030680 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0004209 ORPHA:238446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0004322 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0005692 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0006101 ORPHA:238446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238446 15q11q13 microduplication syndrome HP:0007018 ORPHA:238446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001660 ORPHA:3384 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0000961 ORPHA:3384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001627 ORPHA:3384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001649 ORPHA:3384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001654 ORPHA:3384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0031653 ORPHA:3384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001511 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001629 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001640 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001659 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001667 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0002789 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0011660 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0012020 ORPHA:3384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0000778 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0000849 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001631 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001636 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001642 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001643 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001999 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0002089 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0002101 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0004415 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0004935 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0005301 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0006704 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0011611 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0011640 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0025575 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0031014 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0045060 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0100598 ORPHA:3384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0001669 ORPHA:3384 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0004971 ORPHA:3384 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3384 Truncus arteriosus HP:0031635 ORPHA:3384 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000028 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000160 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000164 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000316 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000343 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000365 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000430 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000431 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000457 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000486 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000490 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000494 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0000508 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0001387 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0001508 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0001510 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0001557 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0001561 ORPHA:2053 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0001562 ORPHA:2053 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0001611 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0001762 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0002047 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0002167 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0002650 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0004322 ORPHA:2053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0008872 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0009465 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0010489 ORPHA:2053 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0010751 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0100490 ORPHA:2053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2053 Freeman-Sheldon syndrome HP:0100790 ORPHA:2053 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0001298 ORPHA:83597 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0007204 ORPHA:83597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0007305 ORPHA:83597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0010845 ORPHA:83597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0000708 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0000737 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0001250 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0001251 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0001268 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0001317 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0001945 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0002018 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0002134 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0002143 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0002181 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0002315 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0002518 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0002922 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0007256 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0012486 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0012696 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0012747 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0025373 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0031696 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0032492 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0100786 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0200149 ORPHA:83597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0000572 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0000718 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0001259 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0001269 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0001289 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0001324 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0002013 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0002167 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0003474 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0004887 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0006824 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0010843 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0011151 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0011193 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0030857 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0031179 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0100653 ORPHA:83597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0004305 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0006562 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0006597 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0007103 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0012302 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0020088 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0020089 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0031693 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83597 Acute disseminated encephalomyelitis HP:0031695 ORPHA:83597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000003 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000028 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000046 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000047 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000062 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000068 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000089 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000142 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000148 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000202 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000204 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000218 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000252 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000316 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000368 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000370 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000405 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000413 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000430 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000431 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000528 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000568 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000618 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000678 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000689 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0000813 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0001126 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0001249 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0001362 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0001522 ORPHA:2052 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0001537 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0001539 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0001602 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0001607 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0001770 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0002023 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0002025 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0002084 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0002089 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0002101 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0002475 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0030680 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0002777 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0003183 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0003191 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0003422 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0004112 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0004397 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0005280 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0006101 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0006610 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0007925 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0007993 ORPHA:2052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0008572 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0008736 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0010297 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0010458 ORPHA:2052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2052 Fraser syndrome HP:0010720 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0000561 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0000695 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0001030 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0001802 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0001817 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0002223 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0002298 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0002878 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0005597 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0031274 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0031538 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0032449 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0100792 ORPHA:158687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0000175 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0000924 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0001233 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0001511 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0001562 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0001638 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0001640 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0001836 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0004209 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0006097 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0006670 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0010705 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0011039 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158687 Lethal acantholytic erosive disorder HP:0000377 ORPHA:158687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0000262 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0000347 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0000494 ORPHA:2050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0000520 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0000592 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0000682 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0000684 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0000772 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0000944 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0001252 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0001263 ORPHA:2050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0001334 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0001511 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0001608 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0002007 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0002645 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0002650 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0002652 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0002757 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0002808 ORPHA:2050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0003312 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0004322 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0005692 ORPHA:2050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0006367 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0006487 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2050 Cole-Carpenter syndrome HP:0011800 ORPHA:2050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000079 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001030 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001057 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0002013 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0003236 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0003270 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0003341 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0004399 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0007585 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0008066 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0200041 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0200097 ORPHA:158684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000070 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000075 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000096 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000110 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000126 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0000795 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001056 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001075 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001371 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0001561 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0003560 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0004552 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0007385 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0007589 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0008404 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0008551 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia HP:0010477 ORPHA:158684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0000953 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0000989 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0001036 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0003341 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0005585 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0007513 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0007585 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0008066 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0031045 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0031180 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0200037 ORPHA:158681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0000464 ORPHA:158681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0002815 ORPHA:158681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0007599 ORPHA:158681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0012221 ORPHA:158681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0000478 ORPHA:158681 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0000972 ORPHA:158681 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0008404 ORPHA:158681 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0200097 ORPHA:158681 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000003 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000028 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000047 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000076 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000126 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000154 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000161 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000175 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000218 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000280 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000316 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000337 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000343 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000347 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000368 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000431 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000463 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000470 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000474 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000568 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000774 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000776 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0000813 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0001249 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0001250 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0001274 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0001305 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0001539 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0001561 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0001636 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0001671 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0001679 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0001804 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0002020 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0002023 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0002089 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0002119 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0002120 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0002247 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0002251 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0002566 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0004209 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0004397 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0006610 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0006709 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0007957 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0009882 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0010804 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0011344 ORPHA:2059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0012303 ORPHA:2059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2059 Fryns syndrome HP:0100335 ORPHA:2059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000154 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000179 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000232 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000252 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000322 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000347 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000426 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000446 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0001166 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0001249 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0001252 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0001519 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0002650 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0002714 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0002827 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0004322 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0004326 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0005692 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0006443 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000179 ORPHA:2057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000303 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000316 ORPHA:2057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000458 ORPHA:2057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000508 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000565 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000574 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000581 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000664 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0001291 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0002553 ORPHA:2057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0004322 ORPHA:2057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0006889 ORPHA:2057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0001252 ORPHA:137754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0001298 ORPHA:137754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0003324 ORPHA:137754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0001250 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0001263 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0002013 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0002104 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0003396 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0006817 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0007370 ORPHA:137754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0000316 ORPHA:137754 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0000407 ORPHA:137754 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency HP:0000445 ORPHA:137754 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2056 Essential fructosuria HP:0011033 ORPHA:2056 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2056 Essential fructosuria HP:0012379 ORPHA:2056 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2056 Essential fructosuria HP:0010969 ORPHA:2056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2056 Essential fructosuria HP:0030272 ORPHA:2056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2056 Essential fructosuria HP:0031979 ORPHA:2056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2056 Essential fructosuria HP:0003074 ORPHA:2056 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001288 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001760 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003477 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003484 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0007141 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0007220 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0007340 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0011402 ORPHA:99939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001265 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001761 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001884 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0002460 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003458 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003474 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003693 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003701 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0009046 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0012896 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0030235 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0200101 ORPHA:99939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001270 ORPHA:99939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0002540 ORPHA:99939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0003376 ORPHA:99939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0000762 ORPHA:99939 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000707 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001262 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002360 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0006979 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0030050 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0032323 ORPHA:3385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000741 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000989 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001324 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001433 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001744 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001824 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002240 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002315 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002355 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002494 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002500 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002716 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0003115 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0011442 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0012378 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0012751 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0025145 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0100785 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0410263 ORPHA:3385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000020 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000083 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000140 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000491 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000509 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000651 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000708 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000718 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000737 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000739 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000771 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000789 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000802 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000818 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000847 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000952 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001101 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001266 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001269 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001288 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001337 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001345 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001596 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001709 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002013 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002014 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002018 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002119 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002167 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002304 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002380 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002476 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002829 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0003401 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0003470 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0003474 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0004305 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0004372 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0005521 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0006824 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0007178 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0010831 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0011706 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0011731 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0032367 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0040086 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0100653 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0100660 ORPHA:3385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0000738 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001085 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001250 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001259 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001622 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001635 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0001701 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0002196 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0005268 ORPHA:3385 TAS HP:0040284 C ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0011675 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0012486 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0012819 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0025475 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3385 African trypanosomiasis HP:0031258 ORPHA:3385 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0000969 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0000980 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0000988 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0001638 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0001744 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0001907 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0001945 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0002014 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0002027 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0002094 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0002240 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0002315 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0002716 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0003326 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0011355 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0011675 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0012735 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0012819 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0030057 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0100539 ORPHA:3386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0001635 ORPHA:3386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0002251 ORPHA:3386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0002571 ORPHA:3386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0012700 ORPHA:3386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0000707 ORPHA:3386 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0002383 ORPHA:3386 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3386 American trypanosomiasis HP:0009830 ORPHA:3386 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000490 ORPHA:502434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001249 ORPHA:502434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001263 ORPHA:502434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000028 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000154 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000426 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000729 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001250 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0002020 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0011968 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0045074 ORPHA:502434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000050 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000085 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000202 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000218 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000252 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000347 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000369 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000486 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000527 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000664 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000954 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000965 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001252 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001377 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001388 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001508 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001511 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001566 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0001999 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0002650 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0002817 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0004209 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0004322 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0004691 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0010864 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0012444 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0200134 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3389 Tuberculosis HP:0001824 ORPHA:3389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3389 Tuberculosis HP:0001945 ORPHA:3389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3389 Tuberculosis HP:0002088 ORPHA:3389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3389 Tuberculosis HP:0012378 ORPHA:3389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3389 Tuberculosis HP:0012735 ORPHA:3389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0001891 ORPHA:99931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0000980 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0001433 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002105 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002113 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0012378 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0012735 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0025179 ORPHA:99931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0001508 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0001640 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0001945 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002091 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002094 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002206 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002240 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002878 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0002923 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0003262 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0003453 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0003493 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0012393 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0025390 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0025392 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0025420 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0030057 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0030148 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0030830 ORPHA:99931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0000099 ORPHA:99931 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99931 Idiopathic pulmonary hemosiderosis HP:0100327 ORPHA:99931 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0001873 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0001875 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0001892 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0001902 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0001933 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0002090 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0002098 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0003010 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0011883 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0012143 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0012418 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0040223 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238459 SLC35A1-CDG HP:0100658 ORPHA:238459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002191 ORPHA:401866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0008288 ORPHA:401866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0000505 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0000639 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0000648 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0000736 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001264 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001276 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001347 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002317 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002415 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002464 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002928 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0003487 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0008945 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0100561 ORPHA:401866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0000737 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001251 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001290 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001336 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002376 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0011968 ORPHA:401866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0001712 ORPHA:401866 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0002151 ORPHA:401866 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:401866 Childhood-onset spasticity with hyperglycinemia HP:0100543 ORPHA:401866 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0001300 ORPHA:238455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0001332 ORPHA:238455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0000338 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0000737 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0001263 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0001276 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0001344 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0002019 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0002020 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0002067 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0002072 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0002310 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0002375 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0002509 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0004354 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0007256 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0008936 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0010553 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0011968 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238455 Infantile dystonia-parkinsonism HP:0100021 ORPHA:238455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0000121 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0000164 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0000168 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0000174 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0000230 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0000975 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0000988 ORPHA:53715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0001053 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0001482 ORPHA:53715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0001609 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0001744 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0002240 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0002653 ORPHA:53715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0007470 ORPHA:53715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0008069 ORPHA:53715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0010783 ORPHA:53715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0100249 ORPHA:53715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53715 Familial tumoral calcinosis HP:0100774 ORPHA:53715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001635 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001640 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001649 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0002875 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0003115 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0005162 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0031664 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0031670 ORPHA:2041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001279 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001627 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001631 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001643 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001647 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001650 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001655 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001681 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0001962 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0002092 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0002617 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0002789 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0005133 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0006689 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0010741 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0011675 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0012764 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0030848 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2041 Coronary arterial fistula HP:0030882 ORPHA:2041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2040 Congenital respiratory-biliary fistula HP:0001392 ORPHA:2040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2040 Congenital respiratory-biliary fistula HP:0002777 ORPHA:2040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0001805 ORPHA:158676 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0001808 ORPHA:158676 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0008404 ORPHA:158676 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0001810 ORPHA:158676 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0008391 ORPHA:158676 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0008401 ORPHA:158676 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0040036 ORPHA:158676 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0001802 ORPHA:158676 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0001030 ORPHA:158676 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0008066 ORPHA:158676 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:158676 Localized dystrophic epidermolysis bullosa, nails only HP:0011121 ORPHA:158676 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0000225 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0000324 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0000360 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0000365 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0000421 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0000496 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0000520 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0000572 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0000737 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0001249 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0001250 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0001260 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0001263 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0001269 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0001342 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0002017 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0002138 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0002315 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0002617 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0007185 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0007730 ORPHA:53719 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0007797 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0011276 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0100021 ORPHA:53719 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0100026 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0100659 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53719 Wyburn-Mason syndrome HP:0100784 ORPHA:53719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0000613 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0000632 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0000643 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0007663 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0008000 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0009926 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0030953 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0200026 ORPHA:171673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0000491 ORPHA:171673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0000559 ORPHA:171673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0007727 ORPHA:171673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0011494 ORPHA:171673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0011496 ORPHA:171673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0100583 ORPHA:171673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171673 Limbal stem cell deficiency HP:0500008 ORPHA:171673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0000963 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0000992 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0001009 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0001029 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0001030 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0001056 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0001810 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0002043 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0002814 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0004334 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0007473 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0000972 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0008066 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0008391 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0010783 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0025474 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0031045 ORPHA:158673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0002815 ORPHA:158673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0008390 ORPHA:158673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form HP:0009811 ORPHA:158673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001172 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001250 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001263 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001288 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001344 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2048 Foix-Chavany-Marie syndrome HP:0001608 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2048 Foix-Chavany-Marie syndrome HP:0009800 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2048 Foix-Chavany-Marie syndrome HP:0100543 ORPHA:2048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0000408 ORPHA:2047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0000505 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0000510 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0000518 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0000545 ORPHA:2047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0000670 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0000726 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0000820 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0001250 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0001251 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0001387 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0001596 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0002120 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0002353 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0002376 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0002381 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0002514 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0002621 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0002650 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0002808 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0003202 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0004326 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0004334 ORPHA:2047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0005978 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0007328 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0008207 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0009830 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0012062 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0100022 ORPHA:2047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2047 Flynn-Aird syndrome HP:0200042 ORPHA:2047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99926 Gestational choriocarcinoma HP:0100768 ORPHA:99926 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99926 Gestational choriocarcinoma HP:0002664 ORPHA:99926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99926 Gestational choriocarcinoma HP:0005268 ORPHA:99926 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:99926 Gestational choriocarcinoma HP:0031502 ORPHA:99926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99926 Gestational choriocarcinoma HP:0100608 ORPHA:99926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2045 FLOTCH syndrome HP:0000492 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2045 FLOTCH syndrome HP:0000498 ORPHA:2045 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2045 FLOTCH syndrome HP:0000499 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2045 FLOTCH syndrome HP:0000613 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2045 FLOTCH syndrome HP:0000653 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2045 FLOTCH syndrome HP:0000787 ORPHA:2045 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2045 FLOTCH syndrome HP:0001597 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2045 FLOTCH syndrome HP:0008069 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2045 FLOTCH syndrome HP:0100533 ORPHA:2045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99927 Hydatidiform mole HP:0000836 ORPHA:99927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99927 Hydatidiform mole HP:0001903 ORPHA:99927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99927 Hydatidiform mole HP:0002017 ORPHA:99927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99927 Hydatidiform mole HP:0005268 ORPHA:99927 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:99927 Hydatidiform mole HP:0100878 ORPHA:99927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99927 Hydatidiform mole HP:0400008 ORPHA:99927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0000273 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001250 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001260 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001328 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002015 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002533 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002788 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0009062 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0030215 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0100022 ORPHA:225147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0000020 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0000298 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0000338 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0000736 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001288 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001300 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001332 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0001347 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002033 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002066 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002067 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002072 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002300 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002301 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002307 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002322 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0002465 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0003487 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0004372 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0005366 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0007158 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0007185 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0008947 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0011151 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0025439 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0030187 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0007359 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:225147 Sporadic infantile bilateral striatal necrosis HP:0040288 ORPHA:225147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0000590 ORPHA:352470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003325 ORPHA:352470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0000716 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0001288 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0001290 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0001533 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0001558 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0002355 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0002828 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0002870 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0002875 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003198 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003307 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003326 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003391 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003394 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0003737 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0004673 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0007970 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0008331 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome HP:0040013 ORPHA:352470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99928 Placental site trophoblastic tumor HP:0000141 ORPHA:99928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99928 Placental site trophoblastic tumor HP:0005268 ORPHA:99928 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:99928 Placental site trophoblastic tumor HP:0100608 ORPHA:99928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001518 ORPHA:2044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0004322 ORPHA:2044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0011098 ORPHA:2044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000154 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000325 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000470 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000486 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000750 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000914 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001256 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001510 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0002342 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0002750 ORPHA:2044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000028 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000047 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000104 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000107 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000121 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000126 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000322 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000327 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000369 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000405 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000446 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000455 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000490 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000540 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000670 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000677 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000691 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000711 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000718 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000722 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000736 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000739 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000826 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000878 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000894 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001156 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001250 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001260 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001344 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001385 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001611 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001620 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0002019 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0002020 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0002136 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0002751 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0003037 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0003083 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0003189 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0003879 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0005743 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0006335 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0007018 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0009765 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0009778 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0010049 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0010946 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0010957 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0011300 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0012871 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0025160 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0030084 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0030424 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0040288 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0100710 ORPHA:2044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000113 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0000593 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001631 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001636 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0001680 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0002608 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0003774 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0005301 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0008554 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0011599 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2044 Floating-Harbor syndrome HP:0012538 ORPHA:2044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0002094 ORPHA:275766 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0001667 ORPHA:275766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0002092 ORPHA:275766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0004890 ORPHA:275766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0005317 ORPHA:275766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:3000042 ORPHA:275766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0001279 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0001635 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0001785 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0005180 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0012098 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0030148 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0100749 ORPHA:275766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0001962 ORPHA:275766 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0002105 ORPHA:275766 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0010741 ORPHA:275766 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0003549 ORPHA:275766 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:275766 Idiopathic pulmonary arterial hypertension HP:0004870 ORPHA:275766 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000161 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000235 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000256 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000268 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000316 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000482 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000534 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000581 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000615 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000951 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0001561 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0001601 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0100629 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000175 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000324 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0000612 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0002007 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3374 Triopia HP:0002084 ORPHA:3374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0000127 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0008207 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0000952 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0000989 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0000991 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001114 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001263 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001297 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001395 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001399 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001410 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001414 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001433 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001508 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001541 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001824 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001903 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001922 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001941 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001944 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001971 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002013 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002014 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002017 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002027 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002040 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002092 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002153 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002155 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002361 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002570 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002615 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002902 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0002910 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0003124 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0003155 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0003270 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0012605 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0004326 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0004333 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0004395 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0004416 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0001677 ORPHA:275761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0006583 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0010512 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0011106 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0011968 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0012598 ORPHA:275761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275761 Lysosomal acid lipase deficiency HP:0100543 ORPHA:275761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0000003 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0000098 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0000286 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0000316 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0000582 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0000716 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0000739 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0000767 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0000869 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0001250 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0001252 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0001263 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0001328 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0001337 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0001385 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0002916 ORPHA:3375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0004209 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0005692 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0007018 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0008678 ORPHA:3375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3375 Trisomy X HP:0100543 ORPHA:3375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000028 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000047 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000062 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000154 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000158 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000160 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000175 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000235 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000238 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000256 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000316 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000347 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000368 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000470 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000518 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000612 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0000774 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0001360 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0001511 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0001539 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0001561 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0001671 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0001732 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0002240 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0002435 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0002566 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0002916 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0004331 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0005264 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0006101 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0007370 ORPHA:3376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0008056 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0008736 ORPHA:3376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3376 Triploidy HP:0100335 ORPHA:3376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0004322 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0000233 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0000252 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0000286 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0000311 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0000316 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0000319 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0000347 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0000369 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0001249 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0001250 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0001263 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0005280 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0007370 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36367 Distal monosomy 1q HP:0011220 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0000303 ORPHA:3377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0001376 ORPHA:3377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0002827 ORPHA:3377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0003011 ORPHA:3377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0004322 ORPHA:3377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0009773 ORPHA:3377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3377 Trismus-pseudocamptodactyly syndrome HP:0000508 ORPHA:3377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99925 Invasive mole HP:0400008 ORPHA:99925 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000008 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000028 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000069 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000126 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000161 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000164 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000175 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000235 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000343 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000369 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000384 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000407 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000476 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000490 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000499 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000504 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000518 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000528 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000568 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000612 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000648 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000774 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0001362 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0001511 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0001629 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0001631 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0001789 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0002101 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0002167 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0002308 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0030680 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0002644 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0002650 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0002705 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0004467 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0007477 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0007598 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0008046 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0008053 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0011344 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0100257 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0100543 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000272 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000370 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000478 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000601 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0000772 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0001162 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0001250 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0001252 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0001643 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0002808 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0005306 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0005562 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0009738 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0010864 ORPHA:3378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0011039 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0100627 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3378 Trisomy 13 HP:0100790 ORPHA:3378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0003325 ORPHA:352479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0030046 ORPHA:352479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0000158 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0001626 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0002792 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0003202 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0003707 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0008994 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0008997 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0030234 ORPHA:352479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0002505 ORPHA:352479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0003326 ORPHA:352479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0003691 ORPHA:352479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0008305 ORPHA:352479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0000478 ORPHA:352479 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20 HP:0011446 ORPHA:352479 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001263 ORPHA:3379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0010864 ORPHA:3379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000028 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000076 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000154 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000175 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000218 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000219 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000252 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000286 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000316 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000322 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000347 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000368 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000581 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000768 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001161 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001761 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001822 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0002000 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0002007 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0002162 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0002572 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0002857 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0003510 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0004322 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0005280 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0008905 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0009911 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000075 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000411 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0000752 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001166 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001250 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001321 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001388 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001627 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001747 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0001845 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0002650 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0006897 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3379 Distal trisomy 17q HP:0008619 ORPHA:3379 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0000498 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0001805 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0003765 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0005406 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0008396 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0010783 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0011131 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0011228 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0011354 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0012390 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0025085 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0031123 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0040181 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0040189 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0100038 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0200039 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0410017 ORPHA:294023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:294023 Neonatal inflammatory skin and bowel disease HP:0001712 ORPHA:294023 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001058 ORPHA:99921 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001072 ORPHA:99921 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0007432 ORPHA:99921 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0000217 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0000495 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0000613 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001000 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001097 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001596 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001806 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002110 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002719 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002910 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0008404 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0010783 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0012537 ORPHA:99921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0000142 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0000790 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001324 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001369 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001371 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001541 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001741 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001824 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0001876 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002014 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002015 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002018 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002020 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002027 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002031 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002039 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002043 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002094 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002107 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002113 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002202 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0002829 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0003326 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0004791 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0006536 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0011946 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0012181 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0012344 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0012531 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0012735 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0025270 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0030828 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0100537 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0100577 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0100749 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0200037 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99921 Chronic graft versus host disease HP:0200042 ORPHA:99921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48372 Nodular regenerative hyperplasia of the liver HP:0001409 ORPHA:48372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48372 Nodular regenerative hyperplasia of the liver HP:0006707 ORPHA:48372 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0045075 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0000958 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0001596 ORPHA:3361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0002208 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0002209 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0002231 ORPHA:3361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0003777 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0009886 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0002299 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3361 Trichodysplasia-xeroderma syndrome HP:0002552 ORPHA:3361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000003 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000107 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000162 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000364 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000368 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000411 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000430 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000463 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000478 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000486 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000504 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000505 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000508 ORPHA:2031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000567 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000581 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000639 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0001249 ORPHA:2031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0001250 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0001276 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0002093 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0002119 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0002435 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0002612 ORPHA:2031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0003196 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0004209 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0004322 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0004422 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0007477 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0100022 ORPHA:2031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0000407 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0000509 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0000975 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0000989 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0001025 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0001369 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0001944 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0001945 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0001959 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0002017 ORPHA:47045 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0002027 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0002315 ORPHA:47045 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0002829 ORPHA:47045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0003326 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0010783 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0012378 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47045 Familial cold urticaria HP:0012534 ORPHA:47045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0000821 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0000836 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0000953 ORPHA:48377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0000989 ORPHA:48377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0001370 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0002725 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0002960 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0006775 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0010702 ORPHA:48377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0010783 ORPHA:48377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48377 Subcorneal pustular dermatosis HP:0200039 ORPHA:48377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0001009 ORPHA:2038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0004952 ORPHA:2038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0001892 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0002094 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0002140 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0002326 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0012151 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0012418 ORPHA:2038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0000421 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0000961 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0001217 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0001658 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0001891 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0001962 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0001977 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0002076 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0002092 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0002105 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0006689 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0011919 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0012735 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0030049 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0030148 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0040223 ORPHA:2038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0001250 ORPHA:2038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0002722 ORPHA:2038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0005244 ORPHA:2038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2038 Pulmonary arteriovenous malformation HP:0100523 ORPHA:2038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000385 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000951 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0001965 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0006709 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0008070 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0008551 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0009738 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0011251 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0011272 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0100783 ORPHA:2036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000010 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000164 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000506 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000518 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000684 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000822 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0001231 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0100540 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0100651 ORPHA:2036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000073 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000077 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000625 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0000966 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0005580 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2036 Scalp-ear-nipple syndrome HP:0012330 ORPHA:2036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0000750 ORPHA:209908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0002167 ORPHA:209908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0001260 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0001328 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0002465 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0002474 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0002546 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0006977 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0007010 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0010863 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0011098 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0031434 ORPHA:209908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0002307 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0002339 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0002340 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0007015 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0011968 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0012434 ORPHA:209908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0000176 ORPHA:209908 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0000396 ORPHA:209908 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0000729 ORPHA:209908 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0002705 ORPHA:209908 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209908 Isolated childhood apraxia of speech HP:0011228 ORPHA:209908 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0001004 ORPHA:2035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0002716 ORPHA:2035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0003550 ORPHA:2035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0100763 ORPHA:2035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000953 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000962 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0002840 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0012224 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0012378 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0012531 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0032061 ORPHA:2035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000034 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000045 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000077 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0001945 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0002088 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0002091 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0012735 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0030828 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0031690 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0031842 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0032260 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0100673 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0100796 ORPHA:2035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000031 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000093 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000099 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000100 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000790 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0000796 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0001785 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0005086 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2035 Lymphatic filariasis HP:0008763 ORPHA:2035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0006530 ORPHA:2032 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0002020 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0002110 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0002206 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0002875 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0012735 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0025175 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0025179 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0025390 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0030830 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0100759 ORPHA:2032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2032 Idiopathic pulmonary fibrosis HP:0010444 ORPHA:2032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0003444 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0003477 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0007141 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0007256 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0008936 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0009830 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0012675 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002454 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0012698 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0025435 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000486 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000618 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000639 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000708 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000712 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000729 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000736 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000750 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000752 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001257 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001260 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001288 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001332 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001371 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002019 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002307 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0005968 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0011951 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0012043 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0012332 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0100710 ORPHA:35069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001250 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0005949 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0010545 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0025331 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0030842 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0031358 ORPHA:35069 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001272 ORPHA:35069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002361 ORPHA:35069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002376 ORPHA:35069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000648 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0000649 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001251 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001268 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001285 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0001347 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002191 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002317 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002483 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0002500 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0003134 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35069 Infantile neuroaxonal dystrophy HP:0003405 ORPHA:35069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0000336 ORPHA:3366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0000431 ORPHA:3366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0000601 ORPHA:3366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0000664 ORPHA:3366 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0001539 ORPHA:3366 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3366 Non-syndromic metopic craniosynostosis HP:0000243 ORPHA:3366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000021 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000047 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000076 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000252 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000465 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000668 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000722 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000736 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000752 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000829 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001274 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001655 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001955 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001999 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002099 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002206 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002360 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002389 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002527 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002679 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002878 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0004322 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0030082 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0100738 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0100753 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000820 ORPHA:209905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000707 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000851 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001251 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001266 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002072 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002086 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002098 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002643 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0008947 ORPHA:209905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000407 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001256 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001260 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001263 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001270 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001332 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001336 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001508 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001510 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001629 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001631 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0001671 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002080 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002092 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002186 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002205 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002311 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002312 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0002925 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0004305 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0006530 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0006532 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0008188 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0008223 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0011780 ORPHA:209905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001396 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001397 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001403 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001513 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001677 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0002155 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0003124 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0003141 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0004943 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001677 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0006573 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0008372 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0011980 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0012115 ORPHA:209902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0012397 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0100514 ORPHA:209902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000431 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000243 ORPHA:3369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0001263 ORPHA:3369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0004322 ORPHA:3369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000023 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000216 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000218 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000237 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000341 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000368 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000601 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0001250 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0001518 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0001629 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0002342 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000444 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0005484 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0005494 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0005495 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0005769 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0000286 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0008897 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome HP:0011324 ORPHA:3369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0000217 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0000709 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0000716 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0000739 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0000821 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0000958 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0000978 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0001250 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0001369 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0001482 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0001513 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0001581 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0002014 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0002019 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0002215 ORPHA:36397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0002225 ORPHA:36397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0002315 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0002354 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0002360 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0002376 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0002829 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0002960 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0003401 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0009830 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0012378 ORPHA:36397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36397 Adiposis dolorosa HP:0100585 ORPHA:36397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3350 Tremor-nystagmus-duodenal ulcer syndrome HP:0000639 ORPHA:3350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3350 Tremor-nystagmus-duodenal ulcer syndrome HP:0002588 ORPHA:3350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3350 Tremor-nystagmus-duodenal ulcer syndrome HP:0100022 ORPHA:3350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3350 Tremor-nystagmus-duodenal ulcer syndrome HP:0001251 ORPHA:3350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001252 ORPHA:2020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003323 ORPHA:2020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0011807 ORPHA:2020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000218 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000678 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001270 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001284 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001315 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001371 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001508 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001824 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002015 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002058 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002086 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002421 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002747 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003388 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0004347 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0004396 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0011842 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0011968 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0012378 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0030192 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0030319 ORPHA:2020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000276 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000347 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000602 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0000767 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001374 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001558 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001561 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001609 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001627 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001648 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001761 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0001762 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002205 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002315 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002360 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002650 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002751 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002878 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0002987 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003273 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003307 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003324 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003547 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0003749 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0004878 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0005216 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0006380 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0006466 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0009004 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0009027 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0011470 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0011951 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0012416 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0012418 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2020 Congenital fiber-type disproportion myopathy HP:0012785 ORPHA:2020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306550 FADD-related immunodeficiency HP:0001250 ORPHA:306550 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:306550 FADD-related immunodeficiency HP:0001298 ORPHA:306550 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:306550 FADD-related immunodeficiency HP:0001410 ORPHA:306550 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:306550 FADD-related immunodeficiency HP:0001395 ORPHA:306550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306550 FADD-related immunodeficiency HP:0002059 ORPHA:306550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306550 FADD-related immunodeficiency HP:0001629 ORPHA:306550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306550 FADD-related immunodeficiency HP:0004935 ORPHA:306550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306550 FADD-related immunodeficiency HP:0030057 ORPHA:306550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000750 ORPHA:352490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001249 ORPHA:352490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001999 ORPHA:352490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000160 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000252 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000286 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000316 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000322 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000347 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000369 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000431 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000486 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000520 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000722 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000729 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000733 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001263 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001290 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001328 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001488 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001518 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0002553 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0004322 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0008762 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0008872 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0012745 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0025112 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000023 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000028 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000278 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000463 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000582 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000752 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000964 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001250 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001257 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001276 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001347 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001537 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001627 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001631 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0001760 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0002650 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0002803 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0002804 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0002808 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0004283 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0005274 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0006184 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0007018 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0009183 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0009473 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0012443 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0100021 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0100277 ORPHA:352490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0000169 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0000212 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0000271 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0000929 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0000940 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0001387 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0001482 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0001522 ORPHA:2028 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0001595 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0002797 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0003202 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0005876 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0008065 ORPHA:2028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0011024 ORPHA:2028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0200034 ORPHA:2028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2028 Juvenile hyaline fibromatosis HP:0200042 ORPHA:2028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome HP:0000169 ORPHA:2027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome HP:0000212 ORPHA:2027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome HP:0000407 ORPHA:2027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome HP:0000684 ORPHA:2027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000164 ORPHA:2026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000169 ORPHA:2026 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000212 ORPHA:2026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000280 ORPHA:2026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000574 ORPHA:2026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000664 ORPHA:2026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0000684 ORPHA:2026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0001007 ORPHA:2026 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0001250 ORPHA:2026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0001251 ORPHA:2026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0002230 ORPHA:2026 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0002353 ORPHA:2026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome HP:0100543 ORPHA:2026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000169 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000212 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000218 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000232 ORPHA:2025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000256 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000316 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000430 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000494 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000574 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000664 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0000684 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0002263 ORPHA:2025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0005280 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome HP:0006482 ORPHA:2025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0000819 ORPHA:36382 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0000822 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0000963 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0001065 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0001297 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0002076 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0002138 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0002315 ORPHA:36382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0002326 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0002381 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0002637 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0003119 ORPHA:36382 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0003401 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0003470 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0003549 ORPHA:36382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0004944 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0004968 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0005302 ORPHA:36382 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0005313 ORPHA:36382 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0010628 ORPHA:36382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0012158 ORPHA:36382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36382 Familial cervical artery dissection HP:0012163 ORPHA:36382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2024 Hereditary gingival fibromatosis HP:0000169 ORPHA:2024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2024 Hereditary gingival fibromatosis HP:0000212 ORPHA:2024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0002585 ORPHA:2023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0002814 ORPHA:2023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0030448 ORPHA:2023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0001945 ORPHA:2023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0003011 ORPHA:2023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0001824 ORPHA:2023 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0002039 ORPHA:2023 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0002817 ORPHA:2023 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2023 Undifferentiated pleomorphic sarcoma HP:0012378 ORPHA:2023 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0000028 ORPHA:2022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0000174 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0000347 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0000368 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0000506 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0000830 ORPHA:2022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0001250 ORPHA:2022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0001635 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0001706 ORPHA:2022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0001723 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0001852 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0001943 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0030680 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0008736 ORPHA:2022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0011039 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2022 Endocardial fibroelastosis HP:0100543 ORPHA:2022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000160 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000175 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000260 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000311 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000316 ORPHA:2021 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000364 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000369 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000463 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000470 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000494 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000520 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000772 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000773 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000774 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000882 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000885 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000940 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0000944 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0001156 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0001357 ORPHA:2021 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0001539 ORPHA:2021 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0001591 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0001804 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0002093 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0002983 ORPHA:2021 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0003312 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0004322 ORPHA:2021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0005280 ORPHA:2021 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2021 Fibrochondrogenesis HP:0100490 ORPHA:2021 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0000264 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0000268 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0000679 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0000687 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0000691 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0001597 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0001808 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0002007 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0006285 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0009722 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0011001 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0011362 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0030312 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0030758 ORPHA:3352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0006485 ORPHA:3352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3352 Tricho-dento-osseous syndrome HP:0040019 ORPHA:3352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0000008 ORPHA:3353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0000684 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0000982 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0002209 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0002213 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0002299 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0002650 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0003272 ORPHA:3353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0003307 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0005338 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0006482 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0007565 ORPHA:3353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0008069 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0008499 ORPHA:3353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0011069 ORPHA:3353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0100840 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0009720 ORPHA:3353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0009804 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3353 Trichodermodysplasia-dental alterations syndrome HP:0200102 ORPHA:3353 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0011923 ORPHA:99901 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001290 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001298 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001397 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001508 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001635 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001639 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001644 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001873 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001987 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0002151 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0002910 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003128 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003198 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003234 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003324 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003326 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003458 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003473 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0008151 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0008331 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0025435 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0045045 ORPHA:99901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001645 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0001958 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0002181 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0003215 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0006554 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99901 Acyl-CoA dehydrogenase 9 deficiency HP:0011695 ORPHA:99901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000218 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000276 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000347 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000365 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000601 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000716 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000739 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000750 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000767 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000786 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000836 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000870 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001256 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001265 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001270 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001290 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001310 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001321 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001337 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001510 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0001761 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002073 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002075 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002355 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002650 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002750 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0002761 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003326 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003391 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003458 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003474 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003557 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003701 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0003737 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0004322 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0008180 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0009051 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0012032 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0012240 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0030319 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0030890 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0100874 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0100887 ORPHA:502423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000729 ORPHA:502423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0100753 ORPHA:502423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000543 ORPHA:502423 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000580 ORPHA:502423 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002197 ORPHA:36387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002121 ORPHA:36387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002373 ORPHA:36387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0001251 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0001252 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002069 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002123 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002311 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002376 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002539 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0007010 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0007058 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0010819 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0010850 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0011151 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0100543 ORPHA:36387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0000729 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0000739 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0001337 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0001763 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002067 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002133 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0002384 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0003066 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0004684 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0007359 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0008770 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36387 Generalized epilepsy with febrile seizures-plus HP:0100694 ORPHA:36387 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002540 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002754 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002756 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002821 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0003693 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0007002 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0012735 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0100287 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0001324 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002141 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002270 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002936 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0007078 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0031060 ORPHA:36386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0000962 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0001026 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0001058 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002460 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0003376 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0006937 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0007021 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0007550 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0009027 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0009763 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0010829 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0010834 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0200042 ORPHA:36386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0000365 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1 HP:0002020 ORPHA:36386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52416 Mantle cell lymphoma HP:0001744 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52416 Mantle cell lymphoma HP:0001824 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52416 Mantle cell lymphoma HP:0002039 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52416 Mantle cell lymphoma HP:0002716 ORPHA:52416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52416 Mantle cell lymphoma HP:0005561 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52416 Mantle cell lymphoma HP:0011024 ORPHA:52416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52416 Mantle cell lymphoma HP:0012378 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52416 Mantle cell lymphoma HP:0001945 ORPHA:52416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52416 Mantle cell lymphoma HP:0012191 ORPHA:52416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0000618 ORPHA:85336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0001250 ORPHA:85336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0001257 ORPHA:85336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0001263 ORPHA:85336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0001522 ORPHA:85336 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:85336 X-linked neurodegenerative syndrome, Hamel type HP:0010864 ORPHA:85336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0000505 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0000614 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0000820 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0001824 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0001903 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0001945 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0002017 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0002027 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0002113 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0002205 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0002716 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0012191 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0012378 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0100721 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0000975 ORPHA:52417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0002019 ORPHA:52417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52417 MALT lymphoma HP:0012123 ORPHA:52417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0000802 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0002019 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0002574 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0003401 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0003418 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0011848 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0030016 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0030155 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0030943 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0100515 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0100518 ORPHA:60039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0000989 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0003474 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0007379 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0010787 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0030439 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0100785 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:60039 Pudendal neuralgia HP:0410019 ORPHA:60039 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome HP:0001250 ORPHA:85338 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome HP:0001251 ORPHA:85338 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome HP:0001256 ORPHA:85338 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome HP:0001762 ORPHA:85338 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85338 X-linked intellectual disability-ataxia-apraxia syndrome HP:0002186 ORPHA:85338 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85332 X-linked intellectual disability-retinitis pigmentosa syndrome HP:0001249 ORPHA:85332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85332 X-linked intellectual disability-retinitis pigmentosa syndrome HP:0007730 ORPHA:85332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0000608 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001249 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001251 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001263 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001274 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001290 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0001522 ORPHA:85334 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0002123 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0006538 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type HP:0200134 ORPHA:85334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0001609 ORPHA:60032 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0001618 ORPHA:60032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002098 ORPHA:60032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002778 ORPHA:60032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0001508 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002015 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002093 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002094 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002105 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002781 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002788 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002789 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0006532 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0010307 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0030828 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0031246 ORPHA:60032 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0001279 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0001945 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002088 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002779 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0002860 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0030842 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60032 Recurrent respiratory papillomatosis HP:0100750 ORPHA:60032 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0000218 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0000238 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0000276 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0000280 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0000322 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0000365 ORPHA:85335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0000400 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0000587 ORPHA:85335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0000718 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0000729 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0001252 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0001263 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0001264 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0001288 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0001317 ORPHA:85335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0002342 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0002465 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0002514 ORPHA:85335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0002650 ORPHA:85335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0002684 ORPHA:85335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85335 Fried syndrome HP:0003202 ORPHA:85335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0002110 ORPHA:60033 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0002795 ORPHA:60033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0011947 ORPHA:60033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0031245 ORPHA:60033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0002094 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0002105 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0002783 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0005376 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0030828 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0030830 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0030877 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0100749 ORPHA:60033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0001658 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0001945 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0002097 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0004326 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0011949 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0100812 ORPHA:60033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60033 Idiopathic bronchiectasis HP:0001217 ORPHA:60033 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2017 Sternal cleft HP:0000464 ORPHA:2017 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2017 Sternal cleft HP:0000465 ORPHA:2017 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2017 Sternal cleft HP:0000478 ORPHA:2017 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2017 Sternal cleft HP:0000504 ORPHA:2017 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000160 ORPHA:2016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000175 ORPHA:2016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000232 ORPHA:2016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000293 ORPHA:2016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000347 ORPHA:2016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0000581 ORPHA:2016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0001608 ORPHA:2016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2016 Cleft palate-lateral synechia syndrome HP:0010285 ORPHA:2016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000175 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000219 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000286 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000347 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000368 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000463 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0000470 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0001249 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0003196 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0003468 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome HP:0004322 ORPHA:2015 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000154 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000238 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000256 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000293 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000324 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000348 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000490 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000648 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000965 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001034 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001052 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001161 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001249 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001252 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001263 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001508 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001770 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0001829 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002007 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002119 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002126 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002308 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0030680 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002637 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0002664 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0005280 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0005692 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0006101 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0007360 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0011675 ORPHA:60040 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0012639 ORPHA:60040 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0100026 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0100555 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0100585 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0100761 ORPHA:60040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0000505 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0000654 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0000662 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0001133 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0007722 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0007760 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0030491 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0031528 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0200065 ORPHA:41751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0000551 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0000580 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0000603 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0000618 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0001129 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0001141 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0007814 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0011505 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0030329 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:41751 Bietti crystalline dystrophy HP:0030528 ORPHA:41751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000047 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000175 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000212 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000252 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000347 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000400 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000411 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000508 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000767 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0001252 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0001263 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0001800 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0002750 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0003202 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0004322 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0004428 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0006709 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0009465 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0009882 ORPHA:2013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0000175 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0000413 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0000506 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0003019 ORPHA:2010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0003028 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0008368 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0008513 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0009702 ORPHA:2010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome HP:0012225 ORPHA:2010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0001608 ORPHA:99977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0001864 ORPHA:99977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0002017 ORPHA:99977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0002716 ORPHA:99977 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0008872 ORPHA:99977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0011459 ORPHA:99977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0012735 ORPHA:99977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99977 Squamous cell carcinoma of the esophagus HP:0100749 ORPHA:99977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99978 Klatskin tumor HP:0000952 ORPHA:99978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99978 Klatskin tumor HP:0001824 ORPHA:99978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99978 Klatskin tumor HP:0001945 ORPHA:99978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99978 Klatskin tumor HP:0002027 ORPHA:99978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99978 Klatskin tumor HP:0002240 ORPHA:99978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99978 Klatskin tumor HP:0002716 ORPHA:99978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99978 Klatskin tumor HP:0004936 ORPHA:99978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99978 Klatskin tumor HP:0012334 ORPHA:99978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99978 Klatskin tumor HP:0012378 ORPHA:99978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99978 Klatskin tumor HP:0030153 ORPHA:99978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001635 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002616 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002617 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0004942 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0005344 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0100545 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0100585 ORPHA:3342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000023 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000276 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000316 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000400 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000963 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000974 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001363 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002647 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0004415 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0005692 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0008501 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0010668 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0012378 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0100541 ORPHA:3342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000256 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000272 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000486 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000545 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000563 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000581 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0000822 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001119 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001166 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001249 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001252 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001263 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001328 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001385 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001582 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001637 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001639 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001644 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001658 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001695 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0001838 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002020 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002021 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002036 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002094 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002098 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002650 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002673 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002812 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002827 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0002878 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0003196 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0004209 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0005743 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0006543 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0007495 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0011302 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0012745 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0012819 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3342 Arterial tortuosity syndrome HP:0100633 ORPHA:3342 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0005616 ORPHA:420179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000098 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000256 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000275 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000300 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000348 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000486 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000494 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000767 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0001319 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0002079 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0002119 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0002162 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0002342 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0003100 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0008872 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0011220 ORPHA:420179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000160 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000218 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000307 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000324 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000490 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000543 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000639 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0000739 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0001250 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0001256 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0001357 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0002007 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0002076 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0002131 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0002365 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0002650 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0005280 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0006956 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0007766 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0010864 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420179 Malan overgrowth syndrome HP:0030799 ORPHA:420179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0000820 ORPHA:3344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0001249 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0001903 ORPHA:3344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0002650 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0002808 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0002823 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0002980 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0002982 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0002991 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0002992 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0040071 ORPHA:3344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0003063 ORPHA:3344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0003103 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0003177 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0003272 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0003312 ORPHA:3344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0003510 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0006487 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0006501 ORPHA:3344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3344 Weismann-Netter syndrome HP:0010502 ORPHA:3344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3346 Tracheal agenesis HP:0001561 ORPHA:3346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3346 Tracheal agenesis HP:0001671 ORPHA:3346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3346 Tracheal agenesis HP:0002093 ORPHA:3346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3346 Tracheal agenesis HP:0006703 ORPHA:3346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3346 Tracheal agenesis HP:0100682 ORPHA:3346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2019 Femur-fibula-ulna complex HP:0001171 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2019 Femur-fibula-ulna complex HP:0002823 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2019 Femur-fibula-ulna complex HP:0002983 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2019 Femur-fibula-ulna complex HP:0040071 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2019 Femur-fibula-ulna complex HP:0003041 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2019 Femur-fibula-ulna complex HP:0004322 ORPHA:2019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2019 Femur-fibula-ulna complex HP:0005792 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2019 Femur-fibula-ulna complex HP:0006101 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2019 Femur-fibula-ulna complex HP:0006501 ORPHA:2019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2019 Femur-fibula-ulna complex HP:0009811 ORPHA:2019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3347 Mounier-Kühn syndrome HP:0002086 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3347 Mounier-Kühn syndrome HP:0002090 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3347 Mounier-Kühn syndrome HP:0002205 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3347 Mounier-Kühn syndrome HP:0002777 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3347 Mounier-Kühn syndrome HP:0006538 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3347 Mounier-Kühn syndrome HP:0010776 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3347 Mounier-Kühn syndrome HP:0012387 ORPHA:3347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99976 Adenocarcinoma of the esophagus HP:0001513 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99976 Adenocarcinoma of the esophagus HP:0001864 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99976 Adenocarcinoma of the esophagus HP:0002017 ORPHA:99976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99976 Adenocarcinoma of the esophagus HP:0002020 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99976 Adenocarcinoma of the esophagus HP:0002716 ORPHA:99976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99976 Adenocarcinoma of the esophagus HP:0008872 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99976 Adenocarcinoma of the esophagus HP:0011459 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99976 Adenocarcinoma of the esophagus HP:0012735 ORPHA:99976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99976 Adenocarcinoma of the esophagus HP:0100580 ORPHA:99976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99976 Adenocarcinoma of the esophagus HP:0100749 ORPHA:99976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000590 ORPHA:352447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000508 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001265 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001611 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001618 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001644 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002015 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002018 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002094 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002719 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002808 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002878 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003198 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003200 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003236 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003306 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003388 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003546 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0003700 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0008443 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0030319 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0040013 ORPHA:352447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000787 ORPHA:352447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002747 ORPHA:352447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0004396 ORPHA:352447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000252 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000815 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001249 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0001272 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0002014 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0011675 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000651 ORPHA:352447 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002787 ORPHA:3348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0031245 ORPHA:3348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0001945 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002090 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002205 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002777 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002781 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002875 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0005607 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0012387 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0025426 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0032016 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0100593 ORPHA:3348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0001609 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002105 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0006532 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0010307 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0030828 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0031352 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0100633 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0100749 ORPHA:3348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0002093 ORPHA:3348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3348 Tracheobronchopathia osteochondroplastica HP:0100750 ORPHA:3348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99971 Well-differentiated liposarcoma HP:0001482 ORPHA:99971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99971 Well-differentiated liposarcoma HP:0002579 ORPHA:99971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99971 Well-differentiated liposarcoma HP:0012211 ORPHA:99971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000194 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000252 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000276 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000325 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000331 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000348 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000411 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000718 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0001263 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0001288 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0001290 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0001999 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0002187 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0002353 ORPHA:85329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0003189 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0003198 ORPHA:85329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0003202 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0004322 ORPHA:85329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0011968 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26137 Juvenile temporal arteritis HP:0001974 ORPHA:26137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26137 Juvenile temporal arteritis HP:0002315 ORPHA:26137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26137 Juvenile temporal arteritis HP:0200036 ORPHA:26137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26137 Juvenile temporal arteritis HP:0000509 ORPHA:26137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26137 Juvenile temporal arteritis HP:0001880 ORPHA:26137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26137 Juvenile temporal arteritis HP:0003193 ORPHA:26137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26137 Juvenile temporal arteritis HP:0002633 ORPHA:26137 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:26137 Juvenile temporal arteritis HP:0002637 ORPHA:26137 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0000529 ORPHA:52427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0000662 ORPHA:52427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0008323 ORPHA:52427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0030506 ORPHA:52427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0030825 ORPHA:52427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0000603 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0000613 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0007675 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0007814 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0007843 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0007987 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0007994 ORPHA:52427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0001105 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0001142 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0007401 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0008527 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0011505 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0031605 ORPHA:52427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52427 Retinitis punctata albescens HP:0000580 ORPHA:52427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001249 ORPHA:261652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001263 ORPHA:261652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001999 ORPHA:261652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000078 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000708 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001548 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001627 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002719 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0410263 ORPHA:261652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000023 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000076 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000077 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000179 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000252 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000365 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000729 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000750 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001250 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001270 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001321 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001508 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001520 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002020 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002079 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002119 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002194 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002463 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002500 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0004322 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0006863 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0009909 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0011351 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0011800 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0100716 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0200005 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000164 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000248 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000519 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000540 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000695 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000826 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000974 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001182 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001252 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001357 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0001537 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002023 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002171 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0002779 ORPHA:261652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000324 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000347 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000356 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000359 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000384 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000405 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000407 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000413 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0004467 ORPHA:52429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0008609 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0009795 ORPHA:52429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0010628 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000175 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000365 ORPHA:52429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0000614 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52429 Branchiootic syndrome HP:0100267 ORPHA:52429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0000098 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0000377 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0000391 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0000574 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0000691 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001176 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001182 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001252 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001263 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001284 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001513 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001833 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0001999 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0002342 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0002857 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0007477 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0009928 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0010761 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0010804 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0010864 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0011968 ORPHA:85325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85325 X-linked intellectual disability, Stevenson type HP:0100540 ORPHA:85325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000272 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000316 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000343 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000349 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000455 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0000463 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0001249 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0002003 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0002007 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0004209 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0004322 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85326 X-linked intellectual disability, Stoll type HP:0005281 ORPHA:85326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0009745 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0030353 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0003564 ORPHA:85327 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0000053 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0000325 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0000718 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0000752 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0000845 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0001260 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0002187 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0003189 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0007361 ORPHA:85327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000028 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000048 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000083 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000089 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000110 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000154 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000164 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000179 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000232 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000252 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000272 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000286 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000347 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000369 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000407 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000431 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000506 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000518 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000545 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000581 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000689 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000821 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0001537 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0001876 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0002342 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0004322 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0006610 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0006709 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0007477 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0008736 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0010864 ORPHA:85321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0100585 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0000023 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0000028 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0000034 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0000160 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0000286 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0000411 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0000426 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0000750 ORPHA:85322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0001182 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0001250 ORPHA:85322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0001263 ORPHA:85322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0001276 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0001288 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0001511 ORPHA:85322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0002205 ORPHA:85322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0002510 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0002750 ORPHA:85322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85322 X-linked intellectual disability, Pai type HP:0010864 ORPHA:85322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0000735 ORPHA:329249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0000842 ORPHA:329249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0001513 ORPHA:329249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0002591 ORPHA:329249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0004322 ORPHA:329249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0000718 ORPHA:329249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0000750 ORPHA:329249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0008763 ORPHA:329249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0002910 ORPHA:329249 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0003074 ORPHA:329249 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0003077 ORPHA:329249 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:458798 Spinocerebellar ataxia type 41 HP:0002066 ORPHA:458798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458798 Spinocerebellar ataxia type 41 HP:0002172 ORPHA:458798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458798 Spinocerebellar ataxia type 41 HP:0006855 ORPHA:458798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000028 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000135 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000252 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000278 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000286 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000316 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000400 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000519 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0001249 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0001250 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0001518 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0002191 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0003202 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0009004 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000218 ORPHA:85323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0001627 ORPHA:85323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0000252 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0000348 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0000486 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0004322 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0010864 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0004279 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0008749 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0011968 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0012745 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0030680 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000014 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000036 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000039 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000047 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000625 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001999 ORPHA:3339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000502 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001140 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001274 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001331 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0007440 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0008065 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0012639 ORPHA:3339 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000069 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000256 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000286 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000365 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000463 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000486 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000506 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000520 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000581 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0000598 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001156 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001252 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001508 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001510 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001561 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0001626 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0002251 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3339 Toriello-Lacassie-Droste syndrome HP:0003196 ORPHA:3339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0008751 ORPHA:2004 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0000961 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0001601 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0001608 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0001615 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0002094 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0002205 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0002835 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0010307 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0012735 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0030842 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0031162 ORPHA:2004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2004 Laryngotracheoesophageal cleft HP:0002643 ORPHA:2004 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0000324 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0000457 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0001251 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0002209 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0002435 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0002744 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0002827 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0005273 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0008625 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0009804 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0012033 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0100335 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome HP:0100559 ORPHA:2003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0000316 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0000347 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0000470 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0000582 ORPHA:2001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0001643 ORPHA:2001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0001679 ORPHA:2001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0030680 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0002566 ORPHA:2001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0002744 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0004209 ORPHA:2001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0004383 ORPHA:2001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0005469 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0010297 ORPHA:2001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0011304 ORPHA:2001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0012368 ORPHA:2001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0000238 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0000256 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0000737 ORPHA:99966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0000741 ORPHA:99966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0001250 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0001251 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0001324 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0001376 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0002017 ORPHA:99966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0002076 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0002514 ORPHA:99966 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0004372 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0004374 ORPHA:99966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0006824 ORPHA:99966 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0100021 ORPHA:99966 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99966 Atypical teratoid rhabdoid tumor HP:0100836 ORPHA:99966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99967 Myxoid/round cell liposarcoma HP:0001482 ORPHA:99967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99967 Myxoid/round cell liposarcoma HP:0002027 ORPHA:99967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99967 Myxoid/round cell liposarcoma HP:0002579 ORPHA:99967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99969 Pleomorphic liposarcoma HP:0012034 ORPHA:99969 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99969 Pleomorphic liposarcoma HP:0001482 ORPHA:99969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0003347 ORPHA:35078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0005354 ORPHA:35078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0005403 ORPHA:35078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0031381 ORPHA:35078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0001888 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0002028 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0002205 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0005390 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0009098 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0040219 ORPHA:35078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0000371 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0001531 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0002850 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0004315 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0004798 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0004429 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0006532 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0010976 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0011837 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0200039 ORPHA:35078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0000143 ORPHA:35078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0000953 ORPHA:35078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0000988 ORPHA:35078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0001433 ORPHA:35078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0001999 ORPHA:35078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000506 ORPHA:572333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000508 ORPHA:572333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000537 ORPHA:572333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000581 ORPHA:572333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000322 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000369 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000431 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000539 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000633 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000646 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0007656 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0011481 ORPHA:572333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000013 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000144 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000147 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000486 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000574 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000656 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000815 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000869 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000876 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0002553 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0007732 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0007835 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0008209 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0008214 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0008222 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0008232 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0008233 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0010464 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0010748 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0011969 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0025572 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0032514 ORPHA:572333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000639 ORPHA:572333 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000028 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000047 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000175 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000204 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000316 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000348 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000369 ORPHA:2008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000431 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000520 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000527 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0000836 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0005916 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001171 ORPHA:2008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001249 ORPHA:2008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001250 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001252 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001276 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001373 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001511 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001522 ORPHA:2008 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001629 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001631 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001636 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001660 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001680 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001718 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001770 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001822 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001829 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0001839 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0002023 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0002120 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0006101 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0008736 ORPHA:2008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0008872 ORPHA:2008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0100490 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2008 Acrocardiofacial syndrome HP:0100589 ORPHA:2008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002460 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002515 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003236 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003307 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003458 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003557 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003701 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003805 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0012083 ORPHA:52430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0000925 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002145 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002797 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003155 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0004322 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0012444 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0030838 ORPHA:52430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0000518 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0001249 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0001293 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0001397 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0001635 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0001638 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002300 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002380 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002381 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002442 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002450 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002463 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002493 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002683 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002659 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002839 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003390 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003444 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003445 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0003700 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0004347 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0004490 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0007002 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0007354 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0011314 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0012548 ORPHA:52430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002756 ORPHA:52430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000316 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000430 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000431 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000444 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000506 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0003191 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0100335 ORPHA:2007 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0003457 ORPHA:99965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0003484 ORPHA:99965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0008954 ORPHA:99965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0030237 ORPHA:99965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0001337 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0002380 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0003444 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0006827 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0012531 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0031372 ORPHA:99965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0001880 ORPHA:99965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0010702 ORPHA:99965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0003474 ORPHA:99965 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99965 O'Sullivan-McLeod syndrome HP:0040272 ORPHA:99965 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0000117 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0001510 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002049 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002909 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003076 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003126 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003149 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003646 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0004910 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0004918 ORPHA:3337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0001324 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0001824 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002148 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002653 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002659 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002749 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002900 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003081 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003234 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003537 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0004912 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0012606 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0012622 ORPHA:3337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0001944 ORPHA:3337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002150 ORPHA:3337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0003774 ORPHA:3337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0001943 ORPHA:3337 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3337 Primary Fanconi renotubular syndrome HP:0002206 ORPHA:3337 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000252 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000308 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000486 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001252 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001257 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001274 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001320 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001339 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002069 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002079 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002198 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002365 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0025101 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0034051 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000609 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000639 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001302 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001338 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002126 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0006989 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0007359 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0012469 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0012650 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0025517 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0031882 ORPHA:171680 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002251 ORPHA:171680 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0001263 ORPHA:171680 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0002119 ORPHA:171680 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0025102 ORPHA:171680 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0000077 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0000763 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0000925 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0001014 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0001052 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0001347 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0001635 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002143 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002385 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002390 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002653 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002751 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002829 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0002839 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0006773 ORPHA:53721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0012378 ORPHA:53721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0100026 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0100758 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0100761 ORPHA:53721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53721 Spinal arteriovenous metameric syndrome HP:0100764 ORPHA:53721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0000280 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0001249 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0001250 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0001263 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0001290 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0002828 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0005876 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0008872 ORPHA:85319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000175 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000303 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000316 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000322 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000336 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000411 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000664 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000998 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0001250 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0001251 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0001272 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0001288 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0001324 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0002342 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0002344 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0002650 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0002808 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0004313 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0005487 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0007598 ORPHA:85317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0009830 ORPHA:85317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0002697 ORPHA:60015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0000932 ORPHA:60015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0002013 ORPHA:60015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0002315 ORPHA:60015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0012721 ORPHA:60015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0100809 ORPHA:60015 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0000175 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0000894 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0001249 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0001250 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0001363 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0002085 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0002475 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0002762 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0007385 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0008497 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0011304 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0012480 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0040197 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60015 Enlarged parietal foramina HP:0410030 ORPHA:60015 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000023 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000028 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000076 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000126 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000218 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000238 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000252 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000286 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000343 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000407 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000414 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000431 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000486 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000490 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000518 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000568 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000612 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000716 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000717 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000739 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001161 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001249 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001250 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001252 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001263 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001274 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001508 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001511 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001643 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001671 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001762 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001770 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001773 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0001829 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0002007 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0002360 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0002650 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0004209 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0004322 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0005692 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0007018 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0008499 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0010059 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0010296 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0011304 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0011611 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0100753 ORPHA:250989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000028 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000078 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000175 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000176 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000271 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000280 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000430 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000455 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000486 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000490 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000525 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000582 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000601 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000708 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000776 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0000815 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0001249 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0001250 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0001263 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0001319 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0001360 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0001510 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0004322 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0001762 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0001792 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0002011 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0002007 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0002089 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0005280 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0011344 ORPHA:250999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0011447 ORPHA:250999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250999 1q41q42 microdeletion syndrome HP:0012471 ORPHA:250999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0000083 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0000123 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0000407 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0001250 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0001336 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0001350 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0001873 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0002470 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0009127 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0009798 ORPHA:3327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3327 Thyrocerebrorenal syndrome HP:0001249 ORPHA:3327 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0000396 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001156 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001162 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001171 ORPHA:3329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001177 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001376 ORPHA:3329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0001539 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0002823 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0002980 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0002991 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0003038 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0003097 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0005772 ORPHA:3329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0006101 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0006443 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0006495 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0009756 ORPHA:3329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3329 Tibial aplasia-ectrodactyly syndrome HP:0100257 ORPHA:3329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome HP:0000053 ORPHA:85320 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome HP:0000256 ORPHA:85320 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome HP:0002342 ORPHA:85320 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0000028 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0000047 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0000238 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0000256 ORPHA:250994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0000316 ORPHA:250994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0000486 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0000501 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0000518 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0000717 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0000738 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0001249 ORPHA:250994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0001250 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0001252 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0001263 ORPHA:250994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0001276 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0001385 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0001508 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0001636 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0001762 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0002007 ORPHA:250994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0002020 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0002804 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0002827 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0007018 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250994 1q21.1 microduplication syndrome HP:0100753 ORPHA:250994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000077 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000085 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000119 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000151 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000175 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000337 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000347 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000348 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000368 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000407 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0000891 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0001181 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0001636 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0001671 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0001873 ORPHA:3320 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0001928 ORPHA:3320 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002650 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002673 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002827 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002949 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002970 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002990 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0002999 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0003974 ORPHA:3320 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0004209 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0004717 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0006101 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0006495 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0006498 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0006507 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0007413 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0009829 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0011304 ORPHA:3320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3320 Thrombocytopenia-absent radius syndrome HP:0100694 ORPHA:3320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001760 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002355 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002522 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0004336 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0007010 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0007230 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0007340 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0008959 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0009053 ORPHA:99956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000501 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001605 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001618 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001761 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002650 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002751 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002936 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0008994 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0012046 ORPHA:99956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000183 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000407 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000508 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000518 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000557 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000648 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0000729 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001026 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001087 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001270 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001328 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001337 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0001763 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002093 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002540 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0002792 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0003401 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0008997 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0012473 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0030237 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0030319 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99956 Charcot-Marie-Tooth disease type 4B2 HP:0030051 ORPHA:99956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0000252 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001249 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001251 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001263 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001265 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001276 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001321 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001508 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001511 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001873 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001881 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001903 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0001928 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002119 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002120 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002209 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002216 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002514 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002664 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002721 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0002745 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0004322 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0004334 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0005528 ORPHA:3322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0007392 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0007440 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0008404 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0011358 ORPHA:3322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002099 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002205 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002718 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002719 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002783 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002788 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002960 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0032169 ORPHA:183675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0000010 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0000403 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0001047 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0001369 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002090 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002110 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002720 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002725 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002829 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002850 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0003193 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0003326 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0004315 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0005231 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0006532 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0011109 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0011110 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0012378 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0012387 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0020096 ORPHA:183675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0000031 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0000819 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0000988 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0001082 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0001370 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002608 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002665 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0003765 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0005353 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0006562 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0012476 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0030151 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0030998 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0032262 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0032275 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0100324 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0100523 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0100806 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0500093 ORPHA:183675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0001907 ORPHA:3325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0001973 ORPHA:3325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0100724 ORPHA:3325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0002625 ORPHA:3325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0003144 ORPHA:3325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0004420 ORPHA:3325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0004936 ORPHA:3325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0001297 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0001658 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0002204 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0002637 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0005521 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0012649 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0030248 ORPHA:3325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3325 Heparin-induced thrombocytopenia HP:0040231 ORPHA:3325 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0001284 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0001760 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002495 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002936 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0003431 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0003477 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0003409 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0007108 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0007230 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0009053 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0011096 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0012078 ORPHA:99953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0001155 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0001761 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0001762 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002355 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0003693 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0003701 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0007210 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0008959 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0009129 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0010830 ORPHA:99953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002141 ORPHA:99953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002505 ORPHA:99953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0002650 ORPHA:99953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0007328 ORPHA:99953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99953 Charcot-Marie-Tooth disease type 4G HP:0008081 ORPHA:99953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0003431 ORPHA:99950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0007078 ORPHA:99950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0007108 ORPHA:99950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0009053 ORPHA:99950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0000407 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0001270 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0001760 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002317 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002460 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0007210 ORPHA:99950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0001171 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0001761 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0001765 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002174 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002540 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002751 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0002936 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0003474 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0003701 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0008959 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0009129 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99950 Charcot-Marie-Tooth disease type 4D HP:0032649 ORPHA:99950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002912 ORPHA:289504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0003215 ORPHA:289504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0012120 ORPHA:289504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0040145 ORPHA:289504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001250 ORPHA:289504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0000252 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0000708 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0000750 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001263 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001298 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001332 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001508 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001941 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001943 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001944 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0001993 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002013 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002076 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002254 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002354 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002384 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0002910 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0008936 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0011169 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0031064 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0040288 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002091 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002094 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0005317 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0012378 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0030874 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0031246 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0032094 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0100749 ORPHA:60025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0000961 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0001708 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0001824 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002093 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002105 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002107 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002110 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002113 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002240 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002789 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002875 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0003473 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0012398 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0012418 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0025178 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0030879 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0031944 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0100759 ORPHA:60025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0000144 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0000790 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0001945 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002206 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0002878 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0004241 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0004382 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0004724 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0004963 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0008703 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0010766 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0011947 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0012215 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0012387 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0025179 ORPHA:60025 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0004363 ORPHA:60025 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:60025 Pulmonary alveolar microlithiasis HP:0100529 ORPHA:60025 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0002729 ORPHA:60026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0012735 ORPHA:60026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0025392 ORPHA:60026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0030150 ORPHA:60026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0100721 ORPHA:60026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0002094 ORPHA:60026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0025179 ORPHA:60026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0100749 ORPHA:60026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0002721 ORPHA:60026 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:60026 Pulmonary nodular lymphoid hyperplasia HP:0030057 ORPHA:60026 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001300 ORPHA:171695 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0007256 ORPHA:171695 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0000011 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0000338 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0000514 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001257 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001332 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001336 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001347 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0001762 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002015 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002063 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002067 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002080 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002172 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002360 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002362 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0002367 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0012332 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0003487 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0011960 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0031435 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0100543 ORPHA:171695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0000726 ORPHA:171695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171695 Parkinsonian-pyramidal syndrome HP:0100315 ORPHA:171695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0000252 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0001317 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0002060 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0002119 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0002472 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0002538 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0009879 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0012444 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0012757 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0000003 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0000175 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0000204 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0000268 ORPHA:3316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0000316 ORPHA:3316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0000348 ORPHA:3316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0000494 ORPHA:3316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0001562 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0030680 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0004383 ORPHA:3316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3316 Thomas syndrome HP:0008678 ORPHA:3316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000098 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000193 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000202 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000218 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000272 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000316 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000347 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000592 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000767 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000768 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000963 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000978 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0000987 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0001065 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0001166 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0001363 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0001373 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0001643 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0001695 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0001763 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0001892 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0002617 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0002647 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0002650 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0004942 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0005116 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0005294 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0005692 ORPHA:60030 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0100490 ORPHA:60030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:60030 Loeys-Dietz syndrome HP:0100718 ORPHA:60030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0001658 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0001744 ORPHA:3318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0001872 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0002326 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0002488 ORPHA:3318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0002863 ORPHA:3318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0003010 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0003401 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0004420 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0005513 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0005561 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0011875 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0011974 ORPHA:3318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0100576 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0100659 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0100749 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3318 Essential thrombocythemia HP:0004936 ORPHA:3318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0000280 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0000470 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0000995 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0001671 ORPHA:3319 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0001873 ORPHA:3319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0001903 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0002650 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0003312 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0004322 ORPHA:3319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0004331 ORPHA:3319 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3319 Congenital amegakaryocytic thrombocytopenia HP:0011902 ORPHA:3319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000750 ORPHA:329224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001249 ORPHA:329224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001263 ORPHA:329224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001999 ORPHA:329224 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000028 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000316 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000369 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000411 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000414 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000494 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000527 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001250 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001488 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001508 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002019 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002553 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0008947 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0012443 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0012523 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0025160 ORPHA:329224 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000023 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000154 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000219 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000252 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000294 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000319 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000400 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000589 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000664 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000699 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000729 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000767 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000954 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001195 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001238 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001260 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001272 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001321 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001344 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001537 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001629 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001631 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001643 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001647 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001655 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0001763 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002020 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002317 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002389 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002650 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002714 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0002951 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0004209 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0005421 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0006610 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0010821 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0011304 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0012210 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0040288 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000175 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000272 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000347 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000407 ORPHA:250984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000483 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000518 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000541 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000545 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000646 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0007773 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0000926 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0002656 ORPHA:250984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0002857 ORPHA:250984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0003301 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0004322 ORPHA:250984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0005692 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0005930 ORPHA:250984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250984 Autosomal recessive Stickler syndrome HP:0012368 ORPHA:250984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0000762 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001760 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001761 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002460 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002936 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0003457 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0003693 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0007010 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0007015 ORPHA:99948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001270 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001284 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001604 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001609 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001765 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0001776 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002317 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002540 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0003387 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0006064 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0006248 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0006858 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0006886 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0006937 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0007267 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0007328 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0009072 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0009473 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0012391 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0030237 ORPHA:99948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002091 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002359 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0002650 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0003547 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0003731 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0007108 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0008443 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0008935 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0009109 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0012078 ORPHA:99948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99948 Charcot-Marie-Tooth disease type 4A HP:0030319 ORPHA:99948 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35093 Non-syndromic sagittal craniosynostosis HP:0000268 ORPHA:35093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35093 Non-syndromic sagittal craniosynostosis HP:0000269 ORPHA:35093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35093 Non-syndromic sagittal craniosynostosis HP:0002007 ORPHA:35093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35093 Non-syndromic sagittal craniosynostosis HP:0002516 ORPHA:35093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001760 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002355 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003380 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003431 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003444 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0004302 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007108 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007141 ORPHA:99949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001284 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001308 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001761 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001765 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002066 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002359 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002460 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002650 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003326 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003394 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0003693 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0006886 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0008443 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0009027 ORPHA:99949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0000183 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0000407 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0000587 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0000639 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001260 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001272 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001385 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001508 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001604 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0001763 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002093 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002307 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002346 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002403 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002540 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0002791 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007209 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007328 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007695 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0009916 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0010871 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0012473 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0030319 ORPHA:99949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0000648 ORPHA:99949 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0007994 ORPHA:99949 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0008081 ORPHA:99949 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0100661 ORPHA:99949 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0000762 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0001288 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0002460 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0002936 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0003202 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0003701 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0009130 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0011096 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0011675 ORPHA:99944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0001270 ORPHA:99944 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000316 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000347 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000363 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000486 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000490 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000494 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000545 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000646 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000750 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001263 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000444 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0030434 ORPHA:3310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000010 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000028 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000110 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000126 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000175 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000193 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000218 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000238 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000239 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000286 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000414 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000470 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000532 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000577 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000639 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000678 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000682 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000789 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000798 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000882 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000921 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000952 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000960 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001250 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001290 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001302 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001305 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001328 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001369 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001373 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001511 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001528 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001633 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001671 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001701 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001762 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0002126 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0002143 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0002714 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0002725 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0004209 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0005562 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0005912 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0006710 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0007598 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0008501 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0011044 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0011467 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0012378 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0030031 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0030880 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0040262 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0100614 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0200055 ORPHA:3310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000054 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000085 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000256 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000322 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000705 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000719 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000729 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0000752 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001339 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001537 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001651 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0001655 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0002089 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0002092 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0011646 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3310 Tetrasomy 9p HP:0011968 ORPHA:3310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0003281 ORPHA:139507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0001395 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0002614 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0006562 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0012115 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0012463 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0012465 ORPHA:139507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0000078 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0000819 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0001397 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0001402 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0001413 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0001627 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0001635 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0002240 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0003118 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0011732 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0011772 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0012090 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0012852 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0031035 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0100510 ORPHA:139507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0000939 ORPHA:139507 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0002586 ORPHA:139507 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:139507 African iron overload HP:0011459 ORPHA:139507 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001760 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003390 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003438 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003444 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003474 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0009027 ORPHA:99947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001155 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001761 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002359 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002378 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002495 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002522 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002601 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002936 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003394 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003551 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0006460 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0007010 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0007328 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0009046 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0009053 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0010829 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0025238 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0030237 ORPHA:99947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001371 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001605 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001609 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001618 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002143 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002174 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003376 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003401 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003487 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0003731 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0006844 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0006915 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0008944 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0012452 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0012513 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0031108 ORPHA:99947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0000238 ORPHA:99947 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0000407 ORPHA:99947 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0000648 ORPHA:99947 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0000662 ORPHA:99947 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0002650 ORPHA:99947 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0000356 ORPHA:3312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0000365 ORPHA:3312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0000855 ORPHA:3312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0001171 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0001177 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0001199 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0002257 ORPHA:3312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0030680 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0002991 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0004059 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0004322 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0005613 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0006495 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0006507 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0009601 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0009813 ORPHA:3312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3312 Thalidomide embryopathy HP:0009892 ORPHA:3312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0001315 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0001762 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0003376 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0003444 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0003445 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0003477 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0007289 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0007328 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0007340 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0008944 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0009129 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0010829 ORPHA:99940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3314 Thiemann disease, familial form HP:0000944 ORPHA:3314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3314 Thiemann disease, familial form HP:0001156 ORPHA:3314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3314 Thiemann disease, familial form HP:0001376 ORPHA:3314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3314 Thiemann disease, familial form HP:0005930 ORPHA:3314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3314 Thiemann disease, familial form HP:0010885 ORPHA:3314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0000248 ORPHA:35099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0000316 ORPHA:35099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0000337 ORPHA:35099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0000365 ORPHA:35099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0000520 ORPHA:35099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0001156 ORPHA:35099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0001249 ORPHA:35099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0002516 ORPHA:35099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0009701 ORPHA:35099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0009891 ORPHA:35099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35099 Non-syndromic bicoronal craniosynostosis HP:0011800 ORPHA:35099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0000126 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0000175 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0000252 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0000322 ORPHA:3305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0000347 ORPHA:3305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0000384 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0000444 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0001511 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0002308 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0002916 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0004059 ORPHA:3305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0004422 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0006703 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0008056 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0008678 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0010515 ORPHA:3305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3305 Tetraploidy HP:0100720 ORPHA:3305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0000965 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0000967 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0000979 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0001324 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0001945 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0002633 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0012224 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0100721 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0100778 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0200042 ORPHA:91138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0000083 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0000093 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0000790 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0001369 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0001392 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0001744 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0002027 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0002240 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0002829 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0003326 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0005244 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0006562 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0007141 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0009830 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0009831 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0100758 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0100820 ORPHA:91138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0001097 ORPHA:91138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91138 Cryoglobulinemic vasculitis HP:0002239 ORPHA:91138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250977 AICA-ribosiduria HP:0000063 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250977 AICA-ribosiduria HP:0000154 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250977 AICA-ribosiduria HP:0000219 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250977 AICA-ribosiduria HP:0000248 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250977 AICA-ribosiduria HP:0000369 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250977 AICA-ribosiduria HP:0001250 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250977 AICA-ribosiduria HP:0007875 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250977 AICA-ribosiduria HP:0008665 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250977 AICA-ribosiduria HP:0010864 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250977 AICA-ribosiduria HP:0011220 ORPHA:250977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0001513 ORPHA:71528 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0009126 ORPHA:71528 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0002591 ORPHA:71528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0001010 ORPHA:71528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0001396 ORPHA:71528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0002297 ORPHA:71528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0008915 ORPHA:71528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0011734 ORPHA:71528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0000823 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0000824 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0000842 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0000956 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0001508 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0001510 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0002173 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0002750 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0008213 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71528 Obesity due to prohormone convertase I deficiency HP:0008245 ORPHA:71528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0001513 ORPHA:71529 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0009126 ORPHA:71529 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0002591 ORPHA:71529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0008915 ORPHA:71529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0000822 ORPHA:71529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0000842 ORPHA:71529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0000956 ORPHA:71529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0002155 ORPHA:71529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71529 Obesity due to melanocortin 4 receptor deficiency HP:0005978 ORPHA:71529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000729 ORPHA:3306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001290 ORPHA:3306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001382 ORPHA:3306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0002307 ORPHA:3306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000733 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000752 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001250 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0006863 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0010529 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0011352 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0011968 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0012169 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0012758 ORPHA:3306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000135 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000218 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000248 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000252 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000322 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000368 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000455 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000486 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000490 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000494 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000664 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000718 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001156 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001510 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001999 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0004209 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0004691 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000286 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0012443 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000028 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000122 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000133 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000826 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001629 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001636 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0001762 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0100790 ORPHA:3306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0002007 ORPHA:3306 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0000160 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0000233 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0000252 ORPHA:3307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0000271 ORPHA:3307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0000286 ORPHA:3307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0000324 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0000343 ORPHA:3307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0000368 ORPHA:3307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0000494 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0001176 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0001249 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0001250 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0001279 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0001288 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0002269 ORPHA:3307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0002571 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0002650 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3307 Tetrasomy 18p HP:0003196 ORPHA:3307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0000979 ORPHA:91139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0001871 ORPHA:91139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0410135 ORPHA:91139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0001955 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0003496 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0006121 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0007067 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0007141 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0009830 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0011355 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0012378 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0030880 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0031047 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0032018 ORPHA:91139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0000077 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0000083 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0000093 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0000793 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0000822 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0001369 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0001824 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0002633 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0002829 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0002907 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0003401 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0005508 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0006775 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0010833 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0011276 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0012191 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0012574 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0032290 ORPHA:91139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0000100 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0000123 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0001250 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0001297 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0001627 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0001635 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0001658 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0001701 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0002011 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0002027 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0002088 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0002239 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0002315 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0002344 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0002923 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0004302 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0004431 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0005550 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0006562 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0006824 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0011024 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91139 Simple cryoglobulinemia HP:0032335 ORPHA:91139 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000238 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000256 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000280 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000293 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000347 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000358 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000463 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000767 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000961 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0001250 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0001263 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0001319 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0001321 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0001635 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0001845 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0002092 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0003196 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0006931 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0011800 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0012368 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0100807 ORPHA:3309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000316 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000343 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000369 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000431 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000470 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000582 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0001508 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0001762 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0002205 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0002098 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0004209 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0004467 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0005989 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0008897 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0010109 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0030148 ORPHA:3309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000218 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000260 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0001612 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0002089 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0007483 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0000286 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3309 Tetrasomy 5p HP:0010318 ORPHA:3309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0000609 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0000707 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0001250 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0001265 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0001319 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0001344 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0002126 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0011344 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0030048 ORPHA:250972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0001274 ORPHA:250972 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0002069 ORPHA:250972 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0002365 ORPHA:250972 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0006989 ORPHA:250972 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:250972 Polymicrogyria with optic nerve hypoplasia HP:0012469 ORPHA:250972 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0001513 ORPHA:71526 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0009126 ORPHA:71526 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0002591 ORPHA:71526 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0001010 ORPHA:71526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0001396 ORPHA:71526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0002297 ORPHA:71526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0008915 ORPHA:71526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0011734 ORPHA:71526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0000823 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0000824 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0000842 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0000956 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0001508 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0001510 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0002173 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0002750 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0008213 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71526 Obesity due to pro-opiomelanocortin deficiency HP:0008245 ORPHA:71526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0002317 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0002495 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003392 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003393 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003426 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003427 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003435 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003484 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0003693 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0007178 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0009053 ORPHA:139536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0001347 ORPHA:139536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0001761 ORPHA:139536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0001765 ORPHA:139536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0008081 ORPHA:139536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139536 Distal hereditary motor neuropathy type 5 HP:0040131 ORPHA:139536 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0001252 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0001639 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0001942 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0002151 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0003128 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0012103 ORPHA:91130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0000961 ORPHA:91130 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0001508 ORPHA:91130 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0003198 ORPHA:91130 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0009805 ORPHA:91130 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0002098 ORPHA:91130 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91132 Ichthyosis-hypotrichosis syndrome HP:0008070 ORPHA:91132 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91132 Ichthyosis-hypotrichosis syndrome HP:0008064 ORPHA:91132 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0001644 ORPHA:91131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0003642 ORPHA:91131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0012379 ORPHA:91131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0031319 ORPHA:91131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0001250 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0001508 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0001635 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0002910 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0008064 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0011342 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0031329 ORPHA:91131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0000253 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0000486 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0000505 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0000729 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0000817 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0001249 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0001270 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0001344 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0002069 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0002521 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0003323 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0004322 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0006829 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0007359 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0008947 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0010841 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0010845 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0011675 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0012469 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0025335 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91131 DK1-CDG HP:0031936 ORPHA:91131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000003 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000028 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000148 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000160 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000202 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000238 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000347 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000482 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000518 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000568 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000612 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000648 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000772 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0000921 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0001274 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0001561 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0001600 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0002023 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0002101 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0002777 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0003057 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0006703 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0006709 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0008551 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0009103 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0009924 ORPHA:3301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0100569 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3301 Tetraamelia-multiple malformations syndrome HP:0100842 ORPHA:3301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0000028 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0000233 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0000268 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0000337 ORPHA:3303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0000520 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0001156 ORPHA:3303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0001511 ORPHA:3303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0001636 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0004209 ORPHA:3303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0004467 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0005105 ORPHA:3303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3303 Tetralogy of Fallot HP:0009891 ORPHA:3303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0000973 ORPHA:91135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0001582 ORPHA:91135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0001928 ORPHA:91135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0200034 ORPHA:91135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0001102 ORPHA:91135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0001892 ORPHA:91135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0002621 ORPHA:91135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0004944 ORPHA:91135 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0002073 ORPHA:352403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000750 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001256 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001260 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001263 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001272 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001310 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001347 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001350 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0002075 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0002078 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0007240 ORPHA:352403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000486 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000639 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000641 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000651 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0000666 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0001257 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0002080 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352403 Spectrin-associated autosomal recessive cerebellar ataxia HP:0008003 ORPHA:352403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000411 ORPHA:3304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001525 ORPHA:3304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0002187 ORPHA:3304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000028 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000218 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000252 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000347 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000400 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000494 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000954 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001631 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001636 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001642 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001719 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0004691 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0011335 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0011344 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000219 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000316 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000348 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000403 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000431 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000486 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000961 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001276 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0001643 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0002179 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0002623 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0005278 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0005301 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0007687 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0100759 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0100760 ORPHA:3304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000280 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000316 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000319 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000322 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000358 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000445 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000527 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000563 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000574 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000582 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000664 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000750 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0001249 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0001373 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0001376 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0001513 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0001762 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0001773 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0001840 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0001999 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0002487 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0002857 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0003077 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0003763 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0004209 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0004322 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0006316 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0009907 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0011098 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0011822 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0200055 ORPHA:289522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000175 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000252 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000365 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0000470 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0001290 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0002650 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0006951 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289522 Microtriplication 11q24.1 HP:0001250 ORPHA:289522 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0000062 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0000252 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0000316 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0000612 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0000648 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0001155 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0005916 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0001276 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0001360 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0001671 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0002023 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0002084 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0002323 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0003312 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0004322 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0007370 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0008056 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0008207 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0008678 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0009601 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0100543 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1590 Distal monosomy 13q HP:0100589 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0001629 ORPHA:99094 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0001659 ORPHA:99094 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0025578 ORPHA:99094 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0031567 ORPHA:99094 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0001635 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0001962 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0002875 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0006704 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0011645 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0011681 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0012378 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0012663 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0031668 ORPHA:99094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0001712 ORPHA:99094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0004970 ORPHA:99094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0011682 ORPHA:99094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0100749 ORPHA:99094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0001643 ORPHA:99094 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0001647 ORPHA:99094 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0001655 ORPHA:99094 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0001705 ORPHA:99094 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99094 Laubry-Pezzi syndrome HP:0004890 ORPHA:99094 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0001629 ORPHA:99095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0012382 ORPHA:99095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0001635 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0001667 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0001708 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0001785 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0001945 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0001962 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0002094 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0005168 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0006689 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0011682 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0012378 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0012398 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0030718 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0030830 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0031443 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0031664 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0031667 ORPHA:99095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0001324 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0001642 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0002092 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0002563 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0002617 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0005180 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0010741 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0030848 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99095 Congenital Gerbode defect HP:0100749 ORPHA:99095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000322 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000400 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000411 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000668 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000750 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0001156 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0001249 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0001263 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0004322 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0009738 ORPHA:1598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000175 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000248 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000252 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000286 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000347 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000431 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000465 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000470 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000508 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000670 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000692 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000767 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000822 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0001252 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0002162 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0002714 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0002751 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0006610 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0100625 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000568 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000708 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0000821 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0001004 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0001360 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0001596 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0030680 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0002960 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1598 Monosomy 18p HP:0007325 ORPHA:1598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0000160 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0000252 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0000288 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0000316 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0000368 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0000582 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0000648 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0000995 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0005916 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0001172 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0001622 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0001626 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0001643 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0001671 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0002093 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0002240 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0002983 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0003272 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0003312 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0004097 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0004322 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0005487 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0007477 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0007598 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0008551 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0009601 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0010293 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0010306 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0100555 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0100560 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1597 Distal monosomy 17q HP:0200055 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001511 ORPHA:1596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001518 ORPHA:1596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000028 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000047 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000054 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000164 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000175 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000219 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000252 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000280 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000316 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000322 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000325 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000347 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000365 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000369 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000455 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000486 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000581 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000582 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000729 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000750 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000776 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001250 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001263 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001508 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001510 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001647 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001680 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001718 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001762 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001792 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0002089 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0002761 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0002827 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0002857 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0004322 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001671 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0005469 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0005709 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0007018 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0008897 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0009381 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0009882 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0010297 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0012303 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0030353 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0030918 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0040019 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0200055 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000003 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000476 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0000954 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001195 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0001643 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0004383 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0004471 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0011560 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0011651 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1596 Distal monosomy 15q HP:0100542 ORPHA:1596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:160148 Cap polyposis HP:0200063 ORPHA:160148 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:160148 Cap polyposis HP:0002019 ORPHA:160148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:160148 Cap polyposis HP:0002027 ORPHA:160148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:160148 Cap polyposis HP:0002573 ORPHA:160148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:160148 Cap polyposis HP:0002582 ORPHA:160148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:160148 Cap polyposis HP:0001824 ORPHA:160148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160148 Cap polyposis HP:0002014 ORPHA:160148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160148 Cap polyposis HP:0003270 ORPHA:160148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79492 Pili gemini HP:0003329 ORPHA:79492 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79492 Pili gemini HP:0003328 ORPHA:79492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0031024 ORPHA:79493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0000271 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0000464 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0001965 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0012842 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0025367 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0200036 ORPHA:79493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0001892 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0002671 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0007606 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0010732 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0025512 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0200042 ORPHA:79493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0000365 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0000372 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0000505 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0010287 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0010288 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0010628 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79493 Brooke-Spiegler syndrome HP:0100684 ORPHA:79493 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002172 ORPHA:37612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002370 ORPHA:37612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002411 ORPHA:37612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0000622 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0000651 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0000975 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0001260 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002018 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002312 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002315 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002321 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0003394 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0003552 ORPHA:37612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0000750 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0001188 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0001266 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0001270 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0001272 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0001276 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0001328 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002098 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002486 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002650 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0002751 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0005461 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0008981 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37612 Episodic ataxia type 1 HP:0030051 ORPHA:37612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0001249 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0001288 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0001639 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0001644 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0006543 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency HP:0010547 ORPHA:34587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001817 ORPHA:79499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0008625 ORPHA:79499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0000164 ORPHA:79499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0000677 ORPHA:79499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001199 ORPHA:79499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001802 ORPHA:79499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0008386 ORPHA:79499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0000268 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0000348 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001057 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001249 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001250 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001763 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001800 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0001999 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0002465 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0009778 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0012554 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0200104 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome HP:0200141 ORPHA:79499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000028 ORPHA:1580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000147 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000175 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000252 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000316 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000347 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000364 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000365 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000368 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000400 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000431 ORPHA:1580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000444 ORPHA:1580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000465 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000470 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000486 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0000494 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0001231 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0001249 ORPHA:1580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0001387 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0001511 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0001800 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0002023 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0030680 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0004209 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0004322 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0004397 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0007598 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0008736 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0009811 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0011344 ORPHA:1580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1580 Distal monosomy 10p HP:0100335 ORPHA:1580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000750 ORPHA:544254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001249 ORPHA:544254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001263 ORPHA:544254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002197 ORPHA:544254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0010832 ORPHA:544254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000708 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000729 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001251 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001252 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001288 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001999 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002342 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002360 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002370 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002376 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0002465 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0010864 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0020208 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0100738 ORPHA:544254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000047 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000154 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000160 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000218 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000233 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000252 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000276 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000325 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000400 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000490 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000735 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000992 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001337 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0001344 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0008770 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0008872 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0011150 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0012703 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0030810 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0040080 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0100023 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0100259 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000243 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000252 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000286 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000316 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000347 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000369 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000391 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000411 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000426 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000431 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000465 ORPHA:1587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000470 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000508 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000518 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000568 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0000612 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0001156 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0001249 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0001252 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0001360 ORPHA:1587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0001511 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0002079 ORPHA:1587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0030680 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0004209 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0004322 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0006101 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0007477 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0009601 ORPHA:1587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0009919 ORPHA:1587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1587 Monosomy 13q14 HP:0011024 ORPHA:1587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0002960 ORPHA:79480 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0011355 ORPHA:79480 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0025300 ORPHA:79480 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0025474 ORPHA:79480 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0100792 ORPHA:79480 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0003493 ORPHA:79480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0008066 ORPHA:79480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0031540 ORPHA:79480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0000155 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0001053 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0002725 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0007510 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0030208 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79480 Pemphigus erythematosus HP:0200041 ORPHA:79480 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0002960 ORPHA:79481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0100792 ORPHA:79481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0000989 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0001965 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0007473 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0008066 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0010783 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0025474 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0040189 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0200041 ORPHA:79481 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0000155 ORPHA:79481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0001019 ORPHA:79481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0011830 ORPHA:79481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0200037 ORPHA:79481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0003765 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0004377 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0008069 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0025527 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0025528 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79481 Pemphigus foliaceus HP:0200039 ORPHA:79481 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0000286 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0000431 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0000486 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0000508 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0000582 ORPHA:1581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0000664 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0001156 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0001251 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0001252 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0001288 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0004209 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0004422 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0007598 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0010557 ORPHA:1581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1581 Non-distal monosomy 10q HP:0100543 ORPHA:1581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0000572 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0000613 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0006758 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0007663 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0007830 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0007984 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0007987 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0030057 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0030357 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0030786 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0100013 ORPHA:71505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0000543 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0000603 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0001105 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0001133 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0004377 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0007641 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0007722 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0007793 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0010784 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0010788 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0012189 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0030528 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0030627 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0100275 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0100522 ORPHA:71505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0000648 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0002367 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0002894 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0003003 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0006725 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0011531 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0012056 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71505 Cancer-associated retinopathy HP:0012125 ORPHA:71505 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000028 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000033 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000037 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008665 ORPHA:289548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000127 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000144 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000151 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000142 ORPHA:289548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000771 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000823 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000835 ORPHA:289548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000848 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008207 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0002750 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000939 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001197 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001274 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001508 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001622 ORPHA:289548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001941 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001944 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0001998 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0002013 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0002153 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0002615 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0002902 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0004319 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0003107 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0003154 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0012605 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0004349 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0007440 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0007574 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008163 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008187 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008232 ORPHA:289548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008730 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0008734 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0010512 ORPHA:289548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0010789 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0011106 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0011749 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0011968 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0011969 ORPHA:289548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0012244 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0012245 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0012598 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0012854 ORPHA:289548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0030349 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0030369 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0100779 ORPHA:289548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0000639 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0001256 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0001258 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0002061 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0002064 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0002166 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0002355 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0002509 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401800 Autosomal recessive spastic paraplegia type 60 HP:0007002 ORPHA:401800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0002061 ORPHA:488594 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0002395 ORPHA:488594 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0003487 ORPHA:488594 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0001251 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0001260 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0001761 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0002066 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0003202 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0007340 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0007350 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0009830 ORPHA:488594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0000009 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0000496 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0002070 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0002650 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0008081 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488594 Autosomal recessive spastic paraplegia type 76 HP:0011448 ORPHA:488594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0001257 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0001276 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0001347 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0002194 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0003202 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0004322 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0004325 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0012407 ORPHA:401805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401805 Autosomal recessive spastic paraplegia type 63 HP:0002518 ORPHA:401805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0000338 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0000473 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001260 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001270 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001300 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002015 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002066 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002067 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002172 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002300 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002307 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002451 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0012179 ORPHA:71517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0000712 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0000716 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0000739 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001250 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001272 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0002322 ORPHA:71517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71517 Rapid-onset dystonia-parkinsonism HP:0001290 ORPHA:71517 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0000473 ORPHA:71518 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0002457 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0000737 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0000741 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0000980 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0001251 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0002013 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0002076 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0002321 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71518 Benign paroxysmal torticollis of infancy HP:0002329 ORPHA:71518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71519 Psychogenic movement disorders HP:0001288 ORPHA:71519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71519 Psychogenic movement disorders HP:0002167 ORPHA:71519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71519 Psychogenic movement disorders HP:0100022 ORPHA:71519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000505 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000512 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000545 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000568 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000639 ORPHA:1574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000648 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0007703 ORPHA:1574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0000608 ORPHA:1573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0000618 ORPHA:1573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0000639 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0000962 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0000995 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0001480 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0002209 ORPHA:1573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0002213 ORPHA:1573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0002299 ORPHA:1573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0002652 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0002813 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0003777 ORPHA:1573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0004322 ORPHA:1573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0008002 ORPHA:1573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1573 Hypotrichosis with juvenile macular degeneration HP:0100326 ORPHA:1573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0000248 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0000388 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0000389 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0000979 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0001392 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0001531 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0001744 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0001878 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0001888 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0001973 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002023 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002090 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002091 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002097 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002110 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002205 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002633 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002665 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002716 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002721 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002829 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002837 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0002910 ORPHA:1572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0004313 ORPHA:1572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0006783 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1572 Common variable immunodeficiency HP:0100723 ORPHA:1572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000076 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000238 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000286 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000486 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000518 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000529 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000541 ORPHA:1571 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000545 ORPHA:1571 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000572 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000608 ORPHA:1571 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0000639 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0007773 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0001083 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0001250 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0001362 ORPHA:1571 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0001595 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0001643 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0001651 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0002021 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0002085 ORPHA:1571 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0004327 ORPHA:1571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0005280 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0005692 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0011800 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0030037 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1571 Knobloch syndrome HP:0100764 ORPHA:1571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1570 Symbrachydactyly of hands and feet HP:0002650 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1570 Symbrachydactyly of hands and feet HP:0040071 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1570 Symbrachydactyly of hands and feet HP:0003063 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1570 Symbrachydactyly of hands and feet HP:0003422 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1570 Symbrachydactyly of hands and feet HP:0006501 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1570 Symbrachydactyly of hands and feet HP:0009601 ORPHA:1570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1570 Symbrachydactyly of hands and feet HP:0009800 ORPHA:1570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1570 Symbrachydactyly of hands and feet HP:0100745 ORPHA:1570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0000590 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0001332 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0002071 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0002073 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0002493 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0007256 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0009830 ORPHA:276238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0000520 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0000623 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0000640 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0000651 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0000750 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0001257 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0001260 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0001272 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0001347 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0002198 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0002312 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0002503 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0003202 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0003487 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0007089 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0007240 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0011960 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0040140 ORPHA:276238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0000011 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0001605 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0001751 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0002015 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0002354 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0002360 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0003394 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0004370 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276238 Machado-Joseph disease type 1 HP:0008944 ORPHA:276238 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0005353 ORPHA:33276 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0001034 ORPHA:33276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0002814 ORPHA:33276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0008069 ORPHA:33276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0012733 ORPHA:33276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0000479 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0001028 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0001298 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0001743 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0002721 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0005523 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0008940 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0011024 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0200034 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0200036 ORPHA:33276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0000988 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0001004 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0001392 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0001824 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0001945 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0002014 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0002088 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0005293 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0011793 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0012378 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33276 Kaposi sarcoma HP:0200035 ORPHA:33276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0002027 ORPHA:79473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0010472 ORPHA:79473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0010473 ORPHA:79473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0012217 ORPHA:79473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0012379 ORPHA:79473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0000707 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0000708 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0000739 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0000992 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001324 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0002019 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0002273 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0003163 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0003418 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0007178 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0008066 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0008997 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0100749 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0200037 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0200041 ORPHA:79473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0000011 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0000822 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0000953 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0000998 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001010 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001056 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001072 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001250 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001265 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001347 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001649 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0002018 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0002203 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0002595 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0002902 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0002910 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0003474 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0011355 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0012332 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0031218 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0100699 ORPHA:79473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0000738 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001259 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001392 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001402 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0001903 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0011999 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79473 Porphyria variegata HP:0012622 ORPHA:79473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000035 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000135 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000144 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000233 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000275 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000347 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000444 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000519 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000546 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000765 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000819 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000822 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000823 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000831 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000905 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000842 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000869 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000934 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000939 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000962 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0000963 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001015 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0009771 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001376 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001385 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001397 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001508 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0004322 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001595 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001596 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001601 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001608 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001634 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001635 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001650 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001677 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001763 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001808 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0001838 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0002155 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0002211 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0002216 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0002231 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0002669 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0002858 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0003074 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0003076 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0003202 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0008981 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0003738 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0003777 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0004054 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0004279 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0004325 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0004349 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0004361 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0004380 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0004414 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0004950 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0005109 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0005177 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0005328 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0005978 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0007509 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0007495 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0007618 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0007703 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0008065 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0008069 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0008209 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0008283 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0008419 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0009064 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0009726 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0010721 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0011001 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0011362 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0040019 ORPHA:79474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100013 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100031 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100526 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100578 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100585 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100615 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100649 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100659 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100679 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100833 ORPHA:79474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0100840 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79474 Atypical Werner syndrome HP:0200042 ORPHA:79474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0000488 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0000639 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0000651 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0001249 ORPHA:79476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0001250 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0001251 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0001263 ORPHA:79476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0001276 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0001290 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0002216 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0002514 ORPHA:79476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0003077 ORPHA:79476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0007443 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0007730 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0011364 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79476 Griscelli syndrome type 1 HP:0100022 ORPHA:79476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0000952 ORPHA:79477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0000967 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0001250 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0001276 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0001744 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0001875 ORPHA:79477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0001876 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0001945 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0002017 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0002113 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0002216 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0002240 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0002716 ORPHA:79477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0002721 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0003077 ORPHA:79477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0005599 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0007443 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0007730 ORPHA:79477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79477 Griscelli syndrome type 2 HP:0012156 ORPHA:79477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79478 Griscelli syndrome type 3 HP:0005599 ORPHA:79478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79478 Griscelli syndrome type 3 HP:0007443 ORPHA:79478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79478 Griscelli syndrome type 3 HP:0007730 ORPHA:79478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0004923 ORPHA:1578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0040210 ORPHA:1578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0010553 ORPHA:1578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0040206 ORPHA:1578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0000737 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0001276 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0001337 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0002917 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0008936 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0012758 ORPHA:1578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0001300 ORPHA:1578 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0004904 ORPHA:1578 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0100021 ORPHA:1578 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0007002 ORPHA:209004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0007267 ORPHA:209004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0007340 ORPHA:209004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0003390 ORPHA:209004 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0005508 ORPHA:209004 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0007240 ORPHA:209004 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0012514 ORPHA:209004 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0031006 ORPHA:209004 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0002665 ORPHA:209004 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0006775 ORPHA:209004 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0025346 ORPHA:209004 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0100778 ORPHA:209004 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0000252 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0000718 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0000823 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0001257 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0001260 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0001288 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0006889 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0001284 ORPHA:401810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0002500 ORPHA:401810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0001249 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0001284 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0001301 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0001321 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0001762 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002061 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002064 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002079 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002166 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002355 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0002509 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0007020 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0007210 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401815 Autosomal recessive spastic paraplegia type 66 HP:0030048 ORPHA:401815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000625 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000653 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0001156 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0001274 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0002006 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0005258 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0005466 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0009119 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0011803 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0040019 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0045075 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0100490 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0001249 ORPHA:306542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0001636 ORPHA:306542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0004423 ORPHA:306542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0006931 ORPHA:306542 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000175 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000286 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000316 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000327 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000349 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000368 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000384 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000405 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000430 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000431 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000508 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000518 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000568 ORPHA:306542 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250923 Isolated aniridia HP:0000501 ORPHA:250923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250923 Isolated aniridia HP:0000518 ORPHA:250923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250923 Isolated aniridia HP:0000526 ORPHA:250923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250923 Isolated aniridia HP:0000572 ORPHA:250923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250923 Isolated aniridia HP:0000639 ORPHA:250923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:250923 Isolated aniridia HP:0000659 ORPHA:250923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:250923 Isolated aniridia HP:0008059 ORPHA:250923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1566 Dandy-Walker malformation-postaxial polydactyly syndrome HP:0001162 ORPHA:1566 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1566 Dandy-Walker malformation-postaxial polydactyly syndrome HP:0001305 ORPHA:1566 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001257 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001258 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001288 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001347 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0012332 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0003409 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0007328 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0009830 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0200042 ORPHA:139578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0002143 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0002169 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0003390 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0003431 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0003487 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0003693 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0007020 ORPHA:139578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0006121 ORPHA:139578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001886 ORPHA:139578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0000248 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0000252 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0000280 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0000750 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0001357 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0001558 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0001662 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0002342 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0002506 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0005469 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0007000 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0007281 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0010864 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0011220 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000083 ORPHA:1563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000112 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000431 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000506 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000518 ORPHA:1563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000821 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000829 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0000966 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0001004 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0001072 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0001156 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0001634 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0001798 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0002230 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0002901 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0004322 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1563 Dahlberg-Borer-Newcomer syndrome HP:0009882 ORPHA:1563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1562 Dacryocystitis-osteopoikilosis syndrome HP:0000620 ORPHA:1562 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1562 Dacryocystitis-osteopoikilosis syndrome HP:0000632 ORPHA:1562 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1562 Dacryocystitis-osteopoikilosis syndrome HP:0010739 ORPHA:1562 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1562 Dacryocystitis-osteopoikilosis syndrome HP:0011001 ORPHA:1562 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000707 ORPHA:1560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0001250 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0002514 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0002922 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0003474 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0004302 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0010576 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0010651 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0010702 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0011805 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0012443 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0012703 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0100702 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0200149 ORPHA:1560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000651 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000708 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000712 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000738 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000925 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000929 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000933 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0001637 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0002133 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0002197 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0002354 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0002493 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0002516 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0006824 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0007359 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0009745 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0012372 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0025258 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0100249 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0100561 ORPHA:1560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000541 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000726 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0000741 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0001094 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0001251 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0001260 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0001268 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0001289 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0001297 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0002383 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0004420 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0007185 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0012424 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1560 Cysticercosis HP:0025163 ORPHA:1560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000968 ORPHA:2890 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000175 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000377 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000561 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000958 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000964 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0000982 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0001596 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0002223 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0002289 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0002299 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0002552 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0007439 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0008394 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0008404 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0010562 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0012725 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0030953 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0410030 ORPHA:2890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2890 Pili torti-onychodysplasia syndrome HP:0002231 ORPHA:2890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0001251 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0001252 ORPHA:2891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0001263 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0001288 ORPHA:2891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0001510 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0003777 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0005692 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0010719 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0100840 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2891 Pili torti-developmental delay-neurological abnormalities syndrome HP:0200102 ORPHA:2891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0003487 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0007089 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0007240 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0007256 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0011960 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0040140 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0000011 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0001605 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0001751 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002015 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002354 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002360 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0003394 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0003477 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0004370 ORPHA:276244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0000590 ORPHA:276244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002071 ORPHA:276244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002073 ORPHA:276244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0008944 ORPHA:276244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0000520 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0000623 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0000640 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0000651 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0000750 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0001257 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0001260 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0001272 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0001332 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0001347 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002198 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002312 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002366 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002398 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002460 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002493 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0002503 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0003202 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276244 Machado-Joseph disease type 3 HP:0003457 ORPHA:276244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0000023 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0000028 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0000256 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0000486 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0002119 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0002120 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0007360 ORPHA:1568 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000154 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000174 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000252 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000280 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000293 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000322 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000341 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000391 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000426 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000463 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000470 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000483 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000490 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000545 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000582 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000692 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000954 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001182 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001249 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001251 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001252 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001263 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001328 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001508 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001510 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001763 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002019 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002020 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002036 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002300 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002342 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002381 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002360 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002381 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0006352 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0008081 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0010529 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0010743 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0011039 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0011300 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0011833 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0011968 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0012471 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0040019 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0100633 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0200055 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000451 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000486 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001063 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001250 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001344 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001786 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002066 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002472 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002793 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002883 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0007370 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0010535 ORPHA:2896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000028 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000054 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000718 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000729 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0001053 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002558 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002650 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0008897 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0040082 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0100716 ORPHA:2896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0002251 ORPHA:2896 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2896 Pitt-Hopkins syndrome HP:0012189 ORPHA:2896 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0000163 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0000964 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0000982 ORPHA:2897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0000989 ORPHA:2897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0001019 ORPHA:2897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0001072 ORPHA:2897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0001597 ORPHA:2897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0002664 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0007400 ORPHA:2897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0008064 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0008392 ORPHA:2897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0100725 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0200034 ORPHA:2897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2897 Pityriasis rubra pilaris HP:0200039 ORPHA:2897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0000590 ORPHA:276241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0002071 ORPHA:276241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0002073 ORPHA:276241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0000520 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0000623 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0000640 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0000651 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0000750 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0001257 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0001260 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0001272 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0001332 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0001347 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0002198 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0002312 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0002493 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0002503 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0003202 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0003487 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0007089 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0007240 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0007256 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0009830 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0011960 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0040140 ORPHA:276241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0000011 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0001605 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0001751 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0002015 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0002354 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0002360 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0003394 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0004370 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276241 Machado-Joseph disease type 2 HP:0008944 ORPHA:276241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0001256 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0001263 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0001274 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0001347 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0002061 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0002064 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0002120 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0002355 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0003487 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0003700 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0006817 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0007020 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0012447 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0100022 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401820 Autosomal recessive spastic paraplegia type 67 HP:0200085 ORPHA:401820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000414 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000447 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000750 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001252 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001263 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001999 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0100025 ORPHA:363965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000028 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000047 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000119 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000232 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000276 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000286 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000365 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000400 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000411 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000486 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000505 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000508 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000540 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000582 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000708 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000968 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001250 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001256 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001319 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001373 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001382 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001388 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001518 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001627 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001761 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001763 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001848 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002011 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002119 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002342 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002353 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0005656 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0007359 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0008897 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011182 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011185 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011968 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0012433 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0012443 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0012745 ORPHA:363965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000010 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000075 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000076 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000126 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000194 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000238 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000256 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000403 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000426 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000430 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000431 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000519 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000581 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000648 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000729 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000739 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000748 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000767 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000768 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000826 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000957 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000960 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000962 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000964 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001010 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001045 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001054 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001166 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001212 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001274 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001363 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001533 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001596 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001601 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001629 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001631 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001638 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001642 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001647 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002079 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002197 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002205 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002286 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002414 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002650 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002652 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002779 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002808 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0003302 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0003307 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0004942 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0005216 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0006482 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0006813 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0007018 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0007099 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0008064 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0008207 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0008445 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0009130 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0009928 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0010864 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0010945 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011098 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011470 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0011822 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0012683 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0012699 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0025268 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0030746 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0100775 ORPHA:363965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000252 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000821 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000824 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0001028 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0002861 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0010788 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000729 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001270 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001344 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002353 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0008947 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011344 ORPHA:522077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000486 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000565 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000639 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000733 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000817 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002013 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002020 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002360 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002487 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0008762 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0025152 ORPHA:522077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000219 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000244 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000286 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000319 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000349 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000540 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000742 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001251 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001266 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001332 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001388 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001601 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001631 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0001776 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002072 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002465 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002650 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002871 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002883 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0002938 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0003196 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0004691 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0005274 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0005876 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0007874 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0008081 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0008138 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0010535 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0010850 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011194 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011196 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011228 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011445 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0011968 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0012169 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0012448 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0025247 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0040296 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0100248 ORPHA:522077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000028 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000048 ORPHA:1555 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000160 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000175 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000189 ORPHA:1555 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000238 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000262 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000268 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000271 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000272 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000316 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000364 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000391 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000400 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000453 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000463 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000478 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000494 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000504 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000508 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000520 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000648 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000822 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000929 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000956 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000982 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000995 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001363 ORPHA:1555 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001482 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001537 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001545 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001597 ORPHA:1555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0001732 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0002098 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0002676 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0003246 ORPHA:1555 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0004450 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0005280 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0007469 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0009804 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0009906 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0010669 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0011800 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0100761 ORPHA:1555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0000316 ORPHA:1553 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0000324 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0000568 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0000588 ORPHA:1553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0000612 ORPHA:1553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0001053 ORPHA:1553 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0001177 ORPHA:1553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0001249 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0001274 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0001363 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0001770 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0001829 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0002119 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0002230 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0002566 ORPHA:1553 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0006101 ORPHA:1553 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0008065 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0009602 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1553 Curry-Jones syndrome HP:0011304 ORPHA:1553 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2889 Pili torti HP:0000164 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2889 Pili torti HP:0000365 ORPHA:2889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2889 Pili torti HP:0000534 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2889 Pili torti HP:0000682 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2889 Pili torti HP:0001596 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2889 Pili torti HP:0001597 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2889 Pili torti HP:0002299 ORPHA:2889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2889 Pili torti HP:0003777 ORPHA:2889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2889 Pili torti HP:0010719 ORPHA:2889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0000708 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001257 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001260 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001268 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001324 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002063 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002172 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002378 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0003487 ORPHA:289560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0000020 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0000648 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001288 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001300 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0001332 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002015 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002067 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002313 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002359 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002453 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002607 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0006801 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0007002 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0045007 ORPHA:289560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0000570 ORPHA:289560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002362 ORPHA:289560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration HP:0002093 ORPHA:289560 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0001873 ORPHA:244242 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0002910 ORPHA:244242 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0001878 ORPHA:244242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0000093 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0002315 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0004324 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0007430 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0008151 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0011900 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0012378 ORPHA:244242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0001058 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0001937 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0002013 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0002018 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0002027 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0002202 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0002615 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0003418 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0003641 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0005521 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0011419 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0025435 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0025547 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0030834 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0100598 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0410019 ORPHA:244242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0001342 ORPHA:244242 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0001919 ORPHA:244242 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:244242 HELLP syndrome HP:0011029 ORPHA:244242 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1552 Currarino syndrome HP:0008517 ORPHA:1552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1552 Currarino syndrome HP:0030736 ORPHA:1552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1552 Currarino syndrome HP:0000037 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1552 Currarino syndrome HP:0000047 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1552 Currarino syndrome HP:0000048 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1552 Currarino syndrome HP:0000076 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1552 Currarino syndrome HP:0002242 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1552 Currarino syndrome HP:0008736 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1552 Currarino syndrome HP:0100026 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1552 Currarino syndrome HP:0100559 ORPHA:1552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0000431 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0001061 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0001250 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0001252 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0001903 ORPHA:1551 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0002002 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0002234 ORPHA:1551 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0004322 ORPHA:1551 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0005019 ORPHA:1551 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0008060 ORPHA:1551 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0010978 ORPHA:1551 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1551 Familial benign copper deficiency HP:0011967 ORPHA:1551 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000238 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000252 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000365 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000488 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000639 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000648 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000958 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000988 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000992 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001025 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001029 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001249 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001251 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001257 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0002634 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0004322 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0004326 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0004334 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0004337 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0007495 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0007587 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000651 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001260 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001263 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0001289 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0002671 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0002861 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0006739 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0007108 ORPHA:220295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0002211 ORPHA:2884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0005599 ORPHA:2884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0007544 ORPHA:2884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0001053 ORPHA:2884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0002226 ORPHA:2884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0002227 ORPHA:2884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0012733 ORPHA:2884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0000252 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0000343 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0000365 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0000431 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0000664 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0001100 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0001249 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0001251 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0001252 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0002251 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0002683 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2884 Piebaldism HP:0008069 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0000407 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0000499 ORPHA:2885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0000534 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0000992 ORPHA:2885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0001029 ORPHA:2885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0001053 ORPHA:2885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0001100 ORPHA:2885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0001249 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0001251 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0002251 ORPHA:2885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0005599 ORPHA:2885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0007400 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0008069 ORPHA:2885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2885 Piebald trait-neurologic defects syndrome HP:0012733 ORPHA:2885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000003 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000202 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000347 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000541 ORPHA:1556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000555 ORPHA:1556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000821 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000951 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000965 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0000979 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001250 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001511 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001541 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001643 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001770 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0001933 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0002650 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0002814 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0002817 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0004349 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0005306 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0006101 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0006385 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0007565 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0008065 ORPHA:1556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100026 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100543 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100545 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100555 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100585 ORPHA:1556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100627 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0100814 ORPHA:1556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1556 Cutis marmorata telangiectatica congenita HP:0200041 ORPHA:1556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000201 ORPHA:2886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001631 ORPHA:2886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001762 ORPHA:2886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0005301 ORPHA:2886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000162 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000175 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000316 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000340 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000347 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000431 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000961 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001249 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001263 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001290 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001508 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001511 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001838 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0009891 ORPHA:2886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000028 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000085 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000126 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000239 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000365 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000368 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000385 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000395 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000463 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000545 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000574 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000954 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001161 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001250 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001273 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001321 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001978 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0002104 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0002136 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0002650 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0004492 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0006101 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0006434 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0009738 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0012745 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0030084 ORPHA:2886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000199 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000648 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000767 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0000879 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0001636 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0002089 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0002246 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0009085 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0010720 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0011445 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2886 TARP syndrome HP:0100259 ORPHA:2886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0000365 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0000518 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0001256 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0001263 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0001274 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0002061 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0002120 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0002378 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0002464 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0006817 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0007020 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0012447 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401830 Autosomal recessive spastic paraplegia type 69 HP:0100022 ORPHA:401830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0001256 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0001263 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0002061 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0002378 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0006530 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0007020 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0009830 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0012447 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0100022 ORPHA:401835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401835 Autosomal recessive spastic paraplegia type 70 HP:0000100 ORPHA:401835 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0000358 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0000369 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0000772 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0001059 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0001511 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0003312 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0003316 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0009465 ORPHA:2876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0000286 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0000396 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0000405 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0000494 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0001199 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0001387 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0001629 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0001680 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0002475 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0002974 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0004935 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0005280 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0009778 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0009906 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0010059 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0011304 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0012304 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2876 PHAVER syndrome HP:0100490 ORPHA:2876 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0000343 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0000402 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0000405 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0002002 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0003019 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0003022 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0003031 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0004059 ORPHA:2878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0005105 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0005288 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0005792 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0006420 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0006482 ORPHA:2878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0008551 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0009601 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0009813 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0009896 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0009906 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0010038 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0011675 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0100257 ORPHA:2878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0000028 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0000151 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0000175 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0000347 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0000411 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0000470 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0001180 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0001362 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0001511 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0001789 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0001849 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0001883 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0002023 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0002164 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0002435 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0002575 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0002705 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0002983 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0002984 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0002986 ORPHA:2879 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0002990 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0002992 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0003041 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0003196 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0003498 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0003982 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0006487 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0008517 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0008736 ORPHA:2879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0009103 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2879 Phocomelia, Schinzel type HP:0100257 ORPHA:2879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0000174 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0000262 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0000303 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0000316 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0000327 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0000444 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0000486 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0000508 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0000520 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0001770 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0001783 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0001839 ORPHA:1540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0001841 ORPHA:1540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0002007 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0002991 ORPHA:1540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0004691 ORPHA:1540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0009773 ORPHA:1540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0009891 ORPHA:1540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0010059 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0010743 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1540 Jackson-Weiss syndrome HP:0011800 ORPHA:1540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0000286 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0000581 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0001249 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0001387 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0001620 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0004322 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0006297 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0000377 ORPHA:2871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2871 Pfeiffer-Palm-Teller syndrome HP:0001650 ORPHA:2871 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000035 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000047 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000164 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000268 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000486 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000768 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0001166 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0001249 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0001252 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0001387 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0001608 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0002205 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0002650 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0002750 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0002808 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0006703 ORPHA:1548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0007598 ORPHA:1548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0000863 ORPHA:95513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0000871 ORPHA:95513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0011751 ORPHA:95513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0000141 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0000622 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0000802 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0000870 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0000980 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0001278 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0001895 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0001959 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0002018 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0002315 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0003158 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0007987 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0008163 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0008213 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0008214 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0040171 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0008240 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0008245 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0011735 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0011748 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0012504 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0012696 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0030018 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0040306 ORPHA:95513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0000407 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0000651 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0000872 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0002902 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0003493 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0004396 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0007041 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95513 Panhypophysitis HP:0008202 ORPHA:95513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000368 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000431 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000473 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000494 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001238 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001249 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001537 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000347 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000369 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001263 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001510 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001511 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0004442 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0012478 ORPHA:2872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000028 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000047 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000054 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000193 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000268 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000289 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0000316 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0001627 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0002705 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0002778 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0002876 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0004322 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0006191 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0008070 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0008112 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0009540 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0010487 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0010621 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0010721 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2872 Cardiocranial syndrome, Pfeiffer type HP:0011220 ORPHA:2872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0000048 ORPHA:1547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0000506 ORPHA:1547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0001480 ORPHA:1547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0001800 ORPHA:1547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0005872 ORPHA:1547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0007477 ORPHA:1547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0009882 ORPHA:1547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0001945 ORPHA:1546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002721 ORPHA:1546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0012735 ORPHA:1546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0025392 ORPHA:1546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0000238 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0000478 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0000504 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0000708 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0001268 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0001287 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0001394 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002013 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002090 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002094 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002098 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002120 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002202 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002315 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002516 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002664 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002725 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002960 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0003690 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0031179 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0100721 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0100749 ORPHA:1546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0000024 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0000356 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0000479 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0000587 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0000602 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0000618 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0001250 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0001291 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002181 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002354 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002586 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002754 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0002797 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0005526 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0011531 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1546 Cryptococcosis HP:0100806 ORPHA:1546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0010817 ORPHA:2874 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0025510 ORPHA:2874 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002650 ORPHA:2874 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000995 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002671 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002859 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0004912 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0012758 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0100556 ORPHA:2874 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000028 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000501 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000589 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000826 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0000975 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001004 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001028 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001250 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001269 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001347 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0001528 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002232 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002414 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002666 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0002667 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0011675 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0012056 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0012583 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0030409 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0030880 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0100702 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0100814 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2874 Phakomatosis pigmentokeratotica HP:0100963 ORPHA:2874 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0000160 ORPHA:1545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0000218 ORPHA:1545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0000293 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0000343 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0000347 ORPHA:1545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0000445 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0000463 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0000966 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0000975 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0001250 ORPHA:1545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0001276 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0001371 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0001376 ORPHA:1545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0001522 ORPHA:1545 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0001645 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0002047 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0002093 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0002650 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0002808 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0011968 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0100490 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0100543 ORPHA:1545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1545 Crisponi syndrome HP:0100729 ORPHA:1545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0000324 ORPHA:2875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0000501 ORPHA:2875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0000592 ORPHA:2875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0001052 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0001053 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0001250 ORPHA:2875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0002120 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0002353 ORPHA:2875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0002514 ORPHA:2875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0003401 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0004349 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0007440 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0100026 ORPHA:2875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2875 Phakomatosis pigmentovascularis HP:0100543 ORPHA:2875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0000871 ORPHA:95512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0000141 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0000622 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0000802 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0000870 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0000980 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0001278 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0001895 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0002018 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0002315 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0003158 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0007987 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0008163 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0008213 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0008214 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0040171 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0008240 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0008245 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0011735 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0011748 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0012504 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0012696 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0030018 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0040306 ORPHA:95512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0000407 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0000651 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0000872 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0002902 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0003493 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0004396 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0007041 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95512 Adenohypophysitis HP:0008202 ORPHA:95512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0001256 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0001263 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0001347 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0002061 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0002064 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0002079 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0002378 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0003487 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0007020 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0009830 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0012447 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0100022 ORPHA:401840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401840 Autosomal recessive spastic paraplegia type 71 HP:0003457 ORPHA:401840 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0002063 ORPHA:401849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0002064 ORPHA:401849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0001761 ORPHA:401849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0002839 ORPHA:401849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0002174 ORPHA:401849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0002354 ORPHA:401849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0006938 ORPHA:401849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0011446 ORPHA:401849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401849 Autosomal spastic paraplegia type 72 HP:0012531 ORPHA:401849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0002079 ORPHA:306511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0007020 ORPHA:306511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0000020 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0001249 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0001251 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0001336 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0001347 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0002061 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0002064 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0002839 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0003236 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0003319 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0007340 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0030890 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0100543 ORPHA:306511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0000488 ORPHA:306511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0001300 ORPHA:306511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0002136 ORPHA:306511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306511 Autosomal recessive spastic paraplegia type 48 HP:0009830 ORPHA:306511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0000465 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0000470 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0001249 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0001627 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0001999 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0004322 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2865 Short stature-webbed neck-heart disease syndrome HP:0011354 ORPHA:2865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0000233 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0000238 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0000248 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0000262 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0000298 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0000316 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0000369 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0000463 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0000505 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0000506 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0001251 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0001317 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0001320 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0002293 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0002342 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0002363 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0004322 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0007328 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0007957 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0011800 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0100543 ORPHA:1532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1532 Gómez-López-Hernández syndrome HP:0100797 ORPHA:1532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0000407 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0000501 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0001363 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0002300 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0002664 ORPHA:2866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0004322 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0004397 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0010978 ORPHA:2866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2867 Short stature, Brussels type HP:0001510 ORPHA:2867 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2867 Short stature, Brussels type HP:0001999 ORPHA:2867 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2867 Short stature, Brussels type HP:0004322 ORPHA:2867 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2867 Short stature, Brussels type HP:0000085 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2867 Short stature, Brussels type HP:0000256 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2867 Short stature, Brussels type HP:0000308 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2867 Short stature, Brussels type HP:0000325 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2867 Short stature, Brussels type HP:0000774 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2867 Short stature, Brussels type HP:0002663 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2867 Short stature, Brussels type HP:0100593 ORPHA:2867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0000164 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0000218 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0000508 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0000678 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0001252 ORPHA:2868 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0001634 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0001642 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0001654 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0002750 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0003498 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0004209 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0005692 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0100729 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2868 Short stature-valvular heart disease-characteristic facies syndrome HP:0200055 ORPHA:2868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0000069 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0000366 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0001003 ORPHA:2869 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0001903 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0002013 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0002027 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0002035 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0002086 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0002239 ORPHA:2869 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0002664 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0002672 ORPHA:2869 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0003002 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0005214 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0005244 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0005264 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0005562 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0005584 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0006725 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0008675 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0011024 ORPHA:2869 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0012126 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0012720 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0012733 ORPHA:2869 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0030079 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0100273 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0100526 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0100574 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0100582 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0100644 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0100669 ORPHA:2869 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0100743 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0100751 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2869 Peutz-Jeghers syndrome HP:0100833 ORPHA:2869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000238 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000268 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000316 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000347 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000486 ORPHA:1538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000648 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0001249 ORPHA:1538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0001305 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0001321 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0002007 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0005472 ORPHA:1538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000028 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000187 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000218 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000288 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000347 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000369 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000431 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000437 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000494 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000527 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000684 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0000830 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0001156 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0001257 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0001643 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0001651 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0002023 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0002645 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0004322 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0007477 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0008678 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0009804 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0012854 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0100490 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome HP:0100543 ORPHA:2863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0000708 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001250 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001252 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001254 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001259 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001315 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001399 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001639 ORPHA:156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001645 ORPHA:156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001939 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001943 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0001947 ORPHA:156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0002167 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0002240 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0002910 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0003202 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0004374 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0007185 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0008279 ORPHA:156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0011675 ORPHA:156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:156 Carnitine palmitoyl transferase 1A deficiency HP:0012378 ORPHA:156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0001548 ORPHA:276280 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0004099 ORPHA:276280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0100659 ORPHA:276280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0000034 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0000105 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0001012 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0001051 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0001829 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0002624 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0002650 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0003764 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0008551 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0010714 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0012887 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0040009 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0100578 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0100585 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0100763 ORPHA:276280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0002667 ORPHA:276280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158 Systemic primary carnitine deficiency HP:0000467 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158 Systemic primary carnitine deficiency HP:0001289 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158 Systemic primary carnitine deficiency HP:0001324 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158 Systemic primary carnitine deficiency HP:0002013 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158 Systemic primary carnitine deficiency HP:0002240 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158 Systemic primary carnitine deficiency HP:0002312 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158 Systemic primary carnitine deficiency HP:0002910 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158 Systemic primary carnitine deficiency HP:0006846 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158 Systemic primary carnitine deficiency HP:0007334 ORPHA:158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001324 ORPHA:157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003326 ORPHA:157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0012380 ORPHA:157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002913 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003077 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003198 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003236 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003546 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003738 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0008315 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0011936 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0040320 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0045045 ORPHA:157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001250 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001970 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002240 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002315 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002574 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003201 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003449 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003710 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0003774 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0008682 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0011964 ORPHA:157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0000113 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0000238 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0000800 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001259 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001274 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001302 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001320 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001399 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001638 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0001985 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002126 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002134 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002269 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002514 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0002643 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0006559 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0011675 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157 Carnitine palmitoyltransferase II deficiency HP:0012443 ORPHA:157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:154 Familial isolated dilated cardiomyopathy HP:0000407 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:154 Familial isolated dilated cardiomyopathy HP:0000982 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:154 Familial isolated dilated cardiomyopathy HP:0001644 ORPHA:154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:154 Familial isolated dilated cardiomyopathy HP:0001874 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:154 Familial isolated dilated cardiomyopathy HP:0003198 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:154 Familial isolated dilated cardiomyopathy HP:0003236 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:154 Familial isolated dilated cardiomyopathy HP:0003457 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:154 Familial isolated dilated cardiomyopathy HP:0100578 ORPHA:154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139491 Hemochromatosis type 4 HP:0001373 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139491 Hemochromatosis type 4 HP:0001376 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139491 Hemochromatosis type 4 HP:0001386 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139491 Hemochromatosis type 4 HP:0001394 ORPHA:139491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139491 Hemochromatosis type 4 HP:0001397 ORPHA:139491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139491 Hemochromatosis type 4 HP:0002027 ORPHA:139491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139491 Hemochromatosis type 4 HP:0002612 ORPHA:139491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139491 Hemochromatosis type 4 HP:0002829 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139491 Hemochromatosis type 4 HP:0003281 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139491 Hemochromatosis type 4 HP:0007440 ORPHA:139491 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002411 ORPHA:324442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002486 ORPHA:324442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003444 ORPHA:324442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009053 ORPHA:324442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0100288 ORPHA:324442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001288 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001315 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001760 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002359 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003236 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003438 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003546 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003710 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0007002 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0007178 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0007289 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0012899 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0030198 ORPHA:324442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001284 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001371 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001761 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001771 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002166 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002273 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002356 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002505 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003376 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003390 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003401 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003409 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003552 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0003760 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0008944 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0008954 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0008991 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009005 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009027 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009049 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009077 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0009130 ORPHA:324442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0000975 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001171 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001256 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0001328 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0002943 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0004686 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0100490 ORPHA:324442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0030429 ORPHA:289596 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0000282 ORPHA:289596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0000421 ORPHA:289596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0000520 ORPHA:289596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0000651 ORPHA:289596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0001742 ORPHA:289596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0002516 ORPHA:289596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289596 Juvenile nasopharyngeal angiofibroma HP:0012198 ORPHA:289596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168816 Peritoneal cystic mesothelioma HP:0000132 ORPHA:168816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168816 Peritoneal cystic mesothelioma HP:0001824 ORPHA:168816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168816 Peritoneal cystic mesothelioma HP:0002019 ORPHA:168816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168816 Peritoneal cystic mesothelioma HP:0002027 ORPHA:168816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168816 Peritoneal cystic mesothelioma HP:0002586 ORPHA:168816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168816 Peritoneal cystic mesothelioma HP:0002664 ORPHA:168816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168816 Peritoneal cystic mesothelioma HP:0003270 ORPHA:168816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168816 Peritoneal cystic mesothelioma HP:0030016 ORPHA:168816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168816 Peritoneal cystic mesothelioma HP:0100608 ORPHA:168816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168811 Malignant peritoneal mesothelioma HP:0001541 ORPHA:168811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168811 Malignant peritoneal mesothelioma HP:0001824 ORPHA:168811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168811 Malignant peritoneal mesothelioma HP:0001928 ORPHA:168811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168811 Malignant peritoneal mesothelioma HP:0002027 ORPHA:168811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168811 Malignant peritoneal mesothelioma HP:0002094 ORPHA:168811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168811 Malignant peritoneal mesothelioma HP:0002586 ORPHA:168811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168811 Malignant peritoneal mesothelioma HP:0002595 ORPHA:168811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168811 Malignant peritoneal mesothelioma HP:0002664 ORPHA:168811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168811 Malignant peritoneal mesothelioma HP:0003270 ORPHA:168811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168811 Malignant peritoneal mesothelioma HP:0010741 ORPHA:168811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0000964 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001581 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002205 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002719 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002960 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0005407 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0031292 ORPHA:443811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0000389 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001047 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001251 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001508 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001888 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002342 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002718 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002923 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0003212 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0003237 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0004429 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0005403 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0006532 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0011343 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0031402 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0045080 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0100806 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0200029 ORPHA:443811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0000218 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0000405 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0000407 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0000793 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0000924 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001260 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001336 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001875 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001878 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001880 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001882 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001904 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001999 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002099 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002110 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002665 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002841 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0003193 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0003261 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0004430 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0004789 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0005528 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0007083 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0008587 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0011109 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0031393 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0031394 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0040148 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0040218 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0045025 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0200042 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0200101 ORPHA:443811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001156 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0001250 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002020 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0002754 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0004322 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:443811 PGM3-CDG HP:0100633 ORPHA:443811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293621 X-linked endothelial corneal dystrophy HP:0000585 ORPHA:293621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293621 X-linked endothelial corneal dystrophy HP:0007663 ORPHA:293621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293621 X-linked endothelial corneal dystrophy HP:0007957 ORPHA:293621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293621 X-linked endothelial corneal dystrophy HP:0011488 ORPHA:293621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293621 X-linked endothelial corneal dystrophy HP:0000565 ORPHA:293621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293621 X-linked endothelial corneal dystrophy HP:0000639 ORPHA:293621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293621 X-linked endothelial corneal dystrophy HP:0100018 ORPHA:293621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:46724 Cerebral arteriovenous malformation HP:0100659 ORPHA:46724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46724 Cerebral arteriovenous malformation HP:0100761 ORPHA:46724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46724 Cerebral arteriovenous malformation HP:0100784 ORPHA:46724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0000277 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0000716 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0001618 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0001824 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0002015 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0005216 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0010754 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0012531 ORPHA:93958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0000159 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0000273 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0000366 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0000473 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0000643 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0002487 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0003763 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0007325 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0012049 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0031008 ORPHA:93958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0001260 ORPHA:93958 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0002098 ORPHA:93958 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93958 Oromandibular dystonia HP:0002451 ORPHA:93958 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0000707 ORPHA:148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0001987 ORPHA:148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0001992 ORPHA:148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0005979 ORPHA:148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0012379 ORPHA:148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0000988 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0001250 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0001252 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0011968 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0001263 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0410145 ORPHA:148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0000365 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0000478 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0000505 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0001251 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0001254 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0001259 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0001596 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0002098 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0002715 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0002789 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0003690 ORPHA:148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0000575 ORPHA:148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0000648 ORPHA:148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0002313 ORPHA:148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:148 Multiple carboxylase deficiency HP:0008311 ORPHA:148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001249 ORPHA:93952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002069 ORPHA:93952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0000750 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001270 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002317 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002600 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0007076 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0010819 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0012391 ORPHA:93952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0000338 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001272 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001288 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001310 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001350 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001513 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001621 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001712 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001763 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0001848 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002079 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002186 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002307 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002345 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002359 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002540 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0002650 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0003438 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0003487 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0010527 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0010529 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93952 X-linked intellectual disability, Hedera type HP:0011812 ORPHA:93952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0000952 ORPHA:30391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001396 ORPHA:30391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001508 ORPHA:30391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001410 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001525 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0002240 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0002630 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0002908 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0002910 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0003155 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0006579 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0008151 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0011984 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0011985 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0030948 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0040321 ORPHA:30391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0000602 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0000821 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0000989 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001250 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001394 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001405 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001408 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001518 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001744 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001999 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0040075 ORPHA:30391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:30391 Isolated biliary atresia HP:0001114 ORPHA:30391 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0004394 ORPHA:79665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0005227 ORPHA:79665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0003003 ORPHA:79665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0004783 ORPHA:79665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0007649 ORPHA:79665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0012032 ORPHA:79665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0025388 ORPHA:79665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0000164 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0001000 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0002895 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0006283 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0008256 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0010562 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0011069 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0100245 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0100246 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0200040 ORPHA:79665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0002342 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0002672 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0002884 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0002885 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0002894 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0003002 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0006722 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0006744 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0009592 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0011068 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0011459 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0012125 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0030434 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0030692 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0031524 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79665 Gardner syndrome HP:0100244 ORPHA:79665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001396 ORPHA:53035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0000952 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001406 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0002027 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0002908 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0003155 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0030151 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0030948 ORPHA:53035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0000113 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0000989 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001081 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001394 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001541 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001744 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001824 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001945 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001974 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0002013 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0002018 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0002039 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0002040 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0002240 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0025143 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0031964 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0032106 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0032545 ORPHA:53035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001395 ORPHA:53035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001409 ORPHA:53035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0002613 ORPHA:53035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0030153 ORPHA:53035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0100523 ORPHA:53035 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0001405 ORPHA:53035 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:53035 Caroli disease HP:0045056 ORPHA:53035 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000252 ORPHA:93950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0004325 ORPHA:93950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000248 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000327 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000582 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0001257 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0001263 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0001518 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0004322 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0008734 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0010864 ORPHA:93950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000275 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000276 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000303 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000400 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000486 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0001256 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0002023 ORPHA:93950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0011027 ORPHA:145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0030406 ORPHA:145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0100615 ORPHA:145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0003002 ORPHA:145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0002861 ORPHA:145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0002894 ORPHA:145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:145 Hereditary breast and ovarian cancer syndrome HP:0012125 ORPHA:145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0001824 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002019 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002024 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002027 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002239 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0003003 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0012378 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0012174 ORPHA:144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0000708 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0000716 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0000737 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0000739 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0001250 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0001252 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0001276 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0001522 ORPHA:144 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002017 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002076 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002516 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0007018 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0100613 ORPHA:144 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0100743 ORPHA:144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0000505 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0000738 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0001123 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0001260 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0001288 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0001371 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0001402 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002167 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002354 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002376 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002671 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002893 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0002894 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0003006 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0003401 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0004374 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0006725 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0007256 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0010524 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0010526 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0010622 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0010786 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0100031 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0100571 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0100576 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0100615 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0100660 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0100835 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:144 Lynch syndrome HP:0200008 ORPHA:144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0001250 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0001252 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0001951 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0001987 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0002093 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0003355 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency HP:0005961 ORPHA:147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33408 Bullous lichen planus HP:0000989 ORPHA:33408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33408 Bullous lichen planus HP:0008066 ORPHA:33408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33408 Bullous lichen planus HP:0100725 ORPHA:33408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33408 Bullous lichen planus HP:0100783 ORPHA:33408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33408 Bullous lichen planus HP:0200034 ORPHA:33408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0001270 ORPHA:313781 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000219 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000260 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000319 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000369 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000426 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000750 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0001249 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0001250 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0001531 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0001792 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0002353 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0002421 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0002553 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0004325 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0011220 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000377 ORPHA:313781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000252 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000256 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000316 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000358 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000482 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000488 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000490 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000494 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000506 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0000664 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0001156 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0006101 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0007663 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0008589 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0010442 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0010804 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0030084 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313781 20p13 microdeletion syndrome HP:0045025 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0000256 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0000365 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0000505 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0000618 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0000648 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0000649 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0001250 ORPHA:141 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0001252 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0001263 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0001276 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0001371 ORPHA:141 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0002020 ORPHA:141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0002353 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0002376 ORPHA:141 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0004372 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0007703 ORPHA:141 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0008872 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141 Canavan disease HP:0100543 ORPHA:141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33402 Pediatric hepatocellular carcinoma HP:0001395 ORPHA:33402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33402 Pediatric hepatocellular carcinoma HP:0002027 ORPHA:33402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33402 Pediatric hepatocellular carcinoma HP:0002240 ORPHA:33402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33402 Pediatric hepatocellular carcinoma HP:0006254 ORPHA:33402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33402 Pediatric hepatocellular carcinoma HP:0002013 ORPHA:33402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33402 Pediatric hepatocellular carcinoma HP:0002605 ORPHA:33402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33402 Pediatric hepatocellular carcinoma HP:0012378 ORPHA:33402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33402 Pediatric hepatocellular carcinoma HP:0030242 ORPHA:33402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33402 Pediatric hepatocellular carcinoma HP:0410019 ORPHA:33402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000037 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000062 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000126 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000175 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000256 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000316 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000347 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000365 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000369 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000470 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000520 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000774 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0000878 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0001601 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0001762 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0002093 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0002119 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0030680 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0002650 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0002757 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0002779 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0002786 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0002808 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0002827 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0002980 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0002982 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0003026 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0003038 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0004322 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0004408 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0005280 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0006487 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0006584 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0007036 ORPHA:140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0008477 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0008821 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0010781 ORPHA:140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140 Campomelic dysplasia HP:0012368 ORPHA:140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0003072 ORPHA:143 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0006780 ORPHA:143 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0008200 ORPHA:143 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0002148 ORPHA:143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0002150 ORPHA:143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0003165 ORPHA:143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0011766 ORPHA:143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0000121 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0000131 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0000787 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0000939 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0001609 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0001824 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0001959 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0002015 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0003072 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0010614 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0012232 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0012378 ORPHA:143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0000083 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0000107 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0000934 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0001324 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0001733 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0002017 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0002019 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0002315 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0002574 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0002653 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0004398 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0008696 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0200025 ORPHA:143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0002667 ORPHA:143 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0002890 ORPHA:143 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0006725 ORPHA:143 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0010788 ORPHA:143 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:143 Parathyroid carcinoma HP:0012032 ORPHA:143 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0011779 ORPHA:142 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0000475 ORPHA:142 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0000853 ORPHA:142 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0001609 ORPHA:142 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0005994 ORPHA:142 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0001605 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0002015 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0002098 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0002716 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0002781 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0004894 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0012531 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0100526 ORPHA:142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0001618 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0001824 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0002094 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0002105 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0010307 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0010622 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0011805 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0012735 ORPHA:142 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0002575 ORPHA:142 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:142 Anaplastic thyroid carcinoma HP:0100836 ORPHA:142 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0031792 ORPHA:293603 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0000622 ORPHA:293603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0000639 ORPHA:293603 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0011487 ORPHA:293603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0007957 ORPHA:293603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0011490 ORPHA:293603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0012040 ORPHA:293603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0007663 ORPHA:293603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293603 Congenital hereditary endothelial dystrophy type II HP:0000407 ORPHA:293603 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0001258 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0001347 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0002061 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0003487 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0006827 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0007002 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0009055 ORPHA:139480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0001272 ORPHA:139480 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139480 Autosomal recessive spastic paraplegia type 39 HP:0002066 ORPHA:139480 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001272 ORPHA:139485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0002073 ORPHA:139485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001348 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0002342 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0002376 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0003546 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0003701 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0004696 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001252 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0012752 ORPHA:139485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0000486 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001250 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001336 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001337 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001347 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0002151 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0002490 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0003128 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0003457 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0007256 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0012758 ORPHA:139485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0000365 ORPHA:139485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0000771 ORPHA:139485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency HP:0001332 ORPHA:139485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0001256 ORPHA:93945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0001263 ORPHA:93945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000275 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000276 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000303 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000322 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000327 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000378 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000400 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000414 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0000486 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0002292 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0004322 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93945 X-linked intellectual disability, Porteous type HP:0004325 ORPHA:93945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168829 Primary peritoneal carcinoma HP:0002017 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168829 Primary peritoneal carcinoma HP:0002019 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168829 Primary peritoneal carcinoma HP:0002027 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168829 Primary peritoneal carcinoma HP:0002586 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168829 Primary peritoneal carcinoma HP:0002664 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168829 Primary peritoneal carcinoma HP:0003270 ORPHA:168829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000160 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000175 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000252 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000272 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000347 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000378 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000414 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000431 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0001166 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0001249 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0001263 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0001522 ORPHA:93946 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0001631 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0004322 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000158 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000252 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000275 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000276 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000286 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000325 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000378 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000411 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000582 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001249 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001250 ORPHA:93947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001257 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001264 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001510 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0001631 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0002299 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0004322 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0008404 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0011359 ORPHA:93947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0000083 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0000093 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0000100 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0000822 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0002907 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0004746 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0005421 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0012622 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0030888 ORPHA:54370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0001919 ORPHA:54370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0003073 ORPHA:54370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0003774 ORPHA:54370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0001658 ORPHA:54370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0001977 ORPHA:54370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54370 Primary membranoproliferative glomerulonephritis HP:0011510 ORPHA:54370 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000028 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000044 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000054 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000359 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000365 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000396 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000458 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000612 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000823 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001263 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001291 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0008572 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0008872 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0009906 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0011382 ORPHA:138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000008 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000048 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000066 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000160 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000175 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000204 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000275 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000324 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000368 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000453 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000486 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000508 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000528 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000567 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000568 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000639 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000648 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000684 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000717 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000722 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000830 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001249 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001252 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001561 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001636 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001643 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001646 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001671 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0002020 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0030680 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0004322 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0005113 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0005280 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0007018 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0008897 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0010628 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0010751 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0011611 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0100736 ORPHA:138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000076 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000085 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000126 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000252 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000286 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000316 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000384 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000478 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000504 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000625 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000632 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000772 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0000834 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001156 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001305 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001360 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001511 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001601 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0001883 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0002093 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0002410 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0002553 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0002575 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0002650 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0002937 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0002992 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0004209 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0004348 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0006824 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0007360 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0008551 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0010443 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0010669 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:138 CHARGE syndrome HP:0010978 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0002093 ORPHA:93941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0003312 ORPHA:93941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0004326 ORPHA:93941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0000772 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0001601 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0001671 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0001743 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0002366 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0002575 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0002777 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0011100 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93941 Laryngotracheoesophageal cleft type 4 HP:0100016 ORPHA:93941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000164 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000252 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000286 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000518 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000944 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000958 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0001376 ORPHA:177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0001510 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0001596 ORPHA:177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0002231 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0002650 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0003298 ORPHA:177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0004322 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0005930 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0008064 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0008905 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0009826 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0010655 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0010864 ORPHA:177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0012368 ORPHA:177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0007843 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0011508 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0030329 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0030644 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0100014 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0100533 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0100832 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0200056 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0000541 ORPHA:179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0011506 ORPHA:179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0030530 ORPHA:179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0000532 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0000572 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0000610 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0007906 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0008046 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0011505 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0011531 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0030609 ORPHA:179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0000518 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0000543 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0000613 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179 Birdshot chorioretinopathy HP:0000622 ORPHA:179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002515 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002812 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003021 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003025 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0006431 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0009826 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0025369 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0030299 ORPHA:174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0000907 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0001248 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0001385 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002970 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002980 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003015 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003026 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003411 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0005028 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0005923 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0006028 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0006208 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0006634 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0008873 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0009852 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0045079 ORPHA:174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0000926 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0001513 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002829 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002938 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0002979 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003301 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0003468 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0004019 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:174 Metaphyseal chondrodysplasia, Schmid type HP:0004042 ORPHA:174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0002014 ORPHA:173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001324 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001649 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001941 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001944 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0002013 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0002615 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0002900 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0002901 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0002902 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0003111 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0003394 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0011036 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0011037 ORPHA:173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0000490 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0000737 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001250 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001254 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001622 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001919 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001943 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0002027 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0002789 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0002883 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0003128 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0005268 ORPHA:173 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0007185 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0007517 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0031274 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0032155 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0032448 ORPHA:173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001297 ORPHA:173 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0001945 ORPHA:173 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:173 Cholera HP:0011951 ORPHA:173 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254478 Lichen planus pemphigoides HP:0000962 ORPHA:254478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254478 Lichen planus pemphigoides HP:0007535 ORPHA:254478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254478 Lichen planus pemphigoides HP:0100725 ORPHA:254478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254478 Lichen planus pemphigoides HP:0200037 ORPHA:254478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254478 Lichen planus pemphigoides HP:0000989 ORPHA:254478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254478 Lichen planus pemphigoides HP:0011830 ORPHA:254478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254478 Lichen planus pemphigoides HP:0000498 ORPHA:254478 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254478 Lichen planus pemphigoides HP:0000509 ORPHA:254478 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254478 Lichen planus pemphigoides HP:0001597 ORPHA:254478 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254478 Lichen planus pemphigoides HP:0008066 ORPHA:254478 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000174 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000212 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000248 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000286 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000368 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000400 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000431 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000444 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000457 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000463 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000470 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000486 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000505 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0045075 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000545 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000592 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000768 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000772 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000774 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000940 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000944 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0000960 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0001252 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0001315 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0001377 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0001508 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0001638 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0001671 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0001732 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0001875 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0001903 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002024 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002093 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002240 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002251 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002353 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002644 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002650 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002652 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002750 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002777 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002901 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002982 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0002983 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0003027 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0003220 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0003272 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0003307 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0003312 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0004279 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0004313 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0004625 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0005019 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0005280 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0005616 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0005692 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0005871 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0005930 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0006487 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0006589 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0007703 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0008056 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0008070 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0008155 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0008499 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0008873 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0008905 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0009832 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0010301 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0010306 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0010318 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0011220 ORPHA:175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0011849 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0012722 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0100255 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0100543 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0100569 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0100729 ORPHA:175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:175 Cartilage-hair hypoplasia HP:0200055 ORPHA:175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0000479 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0000486 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0000518 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0000615 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0002213 ORPHA:170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0002217 ORPHA:170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0002224 ORPHA:170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0002231 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0002299 ORPHA:170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0005338 ORPHA:170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0005599 ORPHA:170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:170 Woolly hair HP:0010719 ORPHA:170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0012469 ORPHA:324422 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0000343 ORPHA:324422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0001290 ORPHA:324422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0002521 ORPHA:324422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0000316 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0000331 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0000463 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0000639 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0000717 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0000750 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0000817 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0001181 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0002283 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0002312 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0002421 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0004325 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0012443 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0030047 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324422 ALG13-CDG HP:0100543 ORPHA:324422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0000952 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0001396 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0001508 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0001744 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0001872 ORPHA:172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0001928 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0002024 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0002240 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0002664 ORPHA:172 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0002750 ORPHA:172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0002901 ORPHA:172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0004322 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0004349 ORPHA:172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:172 Progressive familial intrahepatic cholestasis HP:0100543 ORPHA:172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001396 ORPHA:171 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0002960 ORPHA:171 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0012440 ORPHA:171 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001394 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001395 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001409 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001433 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001541 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001744 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001824 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001945 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0002240 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0002910 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0010638 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0012522 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0012700 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0030168 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0100279 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0100869 ORPHA:171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0000083 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0000716 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0000938 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0000939 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0000952 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0000989 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001081 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001402 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001635 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001733 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0002027 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0002202 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0002608 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0003073 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0003459 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0003700 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0004905 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0008151 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0011892 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0012115 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0012378 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0030153 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0040275 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0100512 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0100513 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0100626 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0100646 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0100651 ORPHA:171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0000554 ORPHA:171 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001298 ORPHA:171 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0006554 ORPHA:171 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0100575 ORPHA:171 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0001879 ORPHA:171 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0005429 ORPHA:171 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0011034 ORPHA:171 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171 Primary sclerosing cholangitis HP:0100727 ORPHA:171 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000023 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000028 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000047 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000154 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000218 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000256 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000269 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000272 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000316 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000343 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000347 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000348 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000378 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000402 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000448 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000475 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000486 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000494 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000609 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000678 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000750 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000766 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001263 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001317 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001357 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001533 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001622 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001631 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001763 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001837 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002021 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002119 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002136 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002236 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002250 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002307 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002342 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002761 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0004322 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0004492 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0004785 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0005852 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0007370 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0008551 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0008935 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0011090 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0012471 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0012506 ORPHA:93932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000194 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000238 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000331 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000407 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000453 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000722 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000954 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0000960 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001172 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001250 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001363 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001537 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001634 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0001680 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002019 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002020 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002023 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0002092 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0005876 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0006101 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0007018 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0009762 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0012433 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93932 FG syndrome type 1 HP:0040022 ORPHA:93932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000175 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000221 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000278 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000369 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000463 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000486 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000568 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000646 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000718 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000768 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000954 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001081 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001181 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001257 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001274 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001315 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001629 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001631 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001761 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001845 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002019 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002059 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002079 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002092 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002342 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002355 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002389 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002650 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002705 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002808 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0004691 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0006101 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0006532 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0006956 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0007082 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0008499 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0009468 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0009471 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0010186 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0010557 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0011670 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0030084 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0032077 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002540 ORPHA:464738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0007413 ORPHA:464738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0011344 ORPHA:464738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000047 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000232 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000252 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000286 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000303 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000316 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000322 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000348 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000482 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000494 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000508 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000519 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001250 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001252 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0001344 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002209 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002263 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0002465 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0005274 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0010804 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0045075 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000023 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000126 ORPHA:464738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0001627 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0009813 ORPHA:294975 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0003826 ORPHA:294975 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0033127 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000765 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000925 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0001671 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000271 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000464 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0011603 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0002088 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000175 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000104 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0003272 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0010442 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0001159 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0001518 ORPHA:294975 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:294975 Congenital absence of upper arm and forearm with hand present HP:0000987 ORPHA:294975 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0000010 ORPHA:93930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0000023 ORPHA:93930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0000039 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0000056 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0000069 ORPHA:93930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0000076 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0001537 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0001539 ORPHA:93930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0002566 ORPHA:93930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0002607 ORPHA:93930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0002836 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0004378 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93930 Bladder exstrophy HP:0008736 ORPHA:93930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0000508 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0000657 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001251 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001256 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001257 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001272 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001310 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001321 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001332 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0001336 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002015 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002069 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002075 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002123 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002313 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002353 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002460 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0002464 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0003477 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0003693 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0007108 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0007141 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0007340 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0008316 ORPHA:313772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0000825 ORPHA:79644 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0000707 ORPHA:79644 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0001988 ORPHA:79644 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0030796 ORPHA:79644 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0031080 ORPHA:79644 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0000845 ORPHA:79644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0001520 ORPHA:79644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0031223 ORPHA:79644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0031224 ORPHA:79644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0040299 ORPHA:79644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0001249 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0001250 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0001998 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0002104 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0003118 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0008194 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0008947 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0011968 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0012758 ORPHA:79644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0002919 ORPHA:79644 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001010 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001881 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001922 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0002718 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0002719 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0012145 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0012156 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0031408 ORPHA:167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000613 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000704 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000978 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000992 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001410 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001433 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001583 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001744 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001892 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001945 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0002205 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0002721 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0003281 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0004527 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0005406 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0005599 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0007499 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0007663 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0007703 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0007730 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0011869 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0011990 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0012176 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0020096 ORPHA:167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000225 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000421 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000486 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000666 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000707 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000726 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000762 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000763 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000952 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000969 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0000988 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001249 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001250 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001251 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001258 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001272 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001288 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001300 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001324 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001328 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001337 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001698 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001873 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001875 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001876 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0001903 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0002155 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0002202 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0002540 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0002716 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0002902 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0002910 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0003075 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0003474 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0006308 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0006824 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0006827 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0007178 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0009830 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0011900 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0012444 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0025435 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0100543 ORPHA:167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:167 Chédiak-Higashi syndrome HP:0005585 ORPHA:167 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:169 Ringed hair disease HP:0002213 ORPHA:169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169 Ringed hair disease HP:0010720 ORPHA:169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168 Loose anagen syndrome HP:0000612 ORPHA:168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168 Loose anagen syndrome HP:0001595 ORPHA:168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168 Loose anagen syndrome HP:0010721 ORPHA:168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163 Hereditary hyperferritinemia-cataract syndrome HP:0000518 ORPHA:163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163 Hereditary hyperferritinemia-cataract syndrome HP:0001939 ORPHA:163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0003236 ORPHA:280333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0006785 ORPHA:280333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0030099 ORPHA:280333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0001270 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0002317 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0002515 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0003551 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0008981 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0010864 ORPHA:280333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0001256 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0002465 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0002938 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0003391 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0003707 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0006466 ORPHA:280333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93928 Isolated epispadias HP:0030911 ORPHA:93928 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93928 Isolated epispadias HP:0000039 ORPHA:93928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93928 Isolated epispadias HP:0008648 ORPHA:93928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93928 Isolated epispadias HP:0000020 ORPHA:93928 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93928 Isolated epispadias HP:0000076 ORPHA:93928 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93928 Isolated epispadias HP:0002644 ORPHA:93928 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000396 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000400 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001172 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001250 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001263 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001344 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001635 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001640 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0002187 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0005781 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0006705 ORPHA:324410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000053 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000232 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000280 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000303 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000319 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000414 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000426 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001634 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001650 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0001653 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0002465 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0002510 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0002540 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0002751 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0003376 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0004749 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0005180 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0005280 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0010808 ORPHA:324410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0000056 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0000070 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0000072 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0000074 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0000076 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0000085 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0000086 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0001539 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0001762 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0002023 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0002414 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0002475 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0002566 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0002827 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0002836 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0002937 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0002991 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0002992 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0008678 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0008736 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0010475 ORPHA:93929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0011027 ORPHA:93929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0011301 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93929 Cloacal exstrophy HP:0100668 ORPHA:93929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0001643 ORPHA:228190 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0001647 ORPHA:228190 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0005295 ORPHA:228190 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0005922 ORPHA:228190 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0004209 ORPHA:228190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0010047 ORPHA:228190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0011927 ORPHA:228190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0000271 ORPHA:228190 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0002716 ORPHA:160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0001824 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0001903 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0002027 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0002729 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0003565 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0011227 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0012378 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0025142 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0030783 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0100721 ORPHA:160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0000952 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0002017 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0003270 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0008940 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0011024 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0012735 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0025066 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0030157 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0031500 ORPHA:160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0000083 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0000790 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0001723 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0001873 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0002094 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0005214 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0006000 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0011974 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:160 Castleman disease HP:0012050 ORPHA:160 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0002438 ORPHA:324416 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0003741 ORPHA:324416 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0007973 ORPHA:324416 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000202 ORPHA:324416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000238 ORPHA:324416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0002119 ORPHA:324416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0007260 ORPHA:324416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0007700 ORPHA:324416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000078 ORPHA:324416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0004488 ORPHA:324416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000519 ORPHA:324416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000568 ORPHA:324416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0002085 ORPHA:324416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0000589 ORPHA:324416 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000478 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000601 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001508 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001510 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002033 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0004322 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0011968 ORPHA:93926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000161 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000175 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000193 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000218 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000252 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000407 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000457 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000708 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000716 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000737 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000739 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000741 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001249 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001250 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001254 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001257 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001328 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001344 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002013 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002015 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002019 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002020 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002270 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002363 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002451 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002540 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002793 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002871 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0005968 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0006528 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0006979 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0007018 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0007301 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0008947 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0010654 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0011442 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0011951 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0012285 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0040327 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0045005 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0100704 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000119 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000238 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000256 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000818 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000824 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000871 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000873 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000924 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001274 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001371 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0001627 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002465 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002650 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0002827 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0006315 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0009062 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0009914 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0009932 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0011471 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0011787 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0012718 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0012806 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0031860 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0040064 ORPHA:93926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000601 ORPHA:93924 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0011968 ORPHA:93924 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000161 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000175 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000218 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000407 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000457 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000478 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000708 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000716 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000737 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000739 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000818 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000873 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001249 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001328 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001508 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001510 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002019 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002020 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002033 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002270 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002465 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0004322 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0006528 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0006979 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0007018 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0011442 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0011951 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0012285 ORPHA:93924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000119 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000193 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000238 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000252 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000256 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000741 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000824 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000871 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0000924 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001250 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001254 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001257 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001274 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001627 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002013 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002015 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002363 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002451 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002650 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002793 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002827 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002871 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0005968 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0007301 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0008947 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0009062 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0010654 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0011471 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0011787 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0012718 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0031860 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0040064 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0040327 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0100704 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001344 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0001371 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0002540 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0006315 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0009914 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0009932 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0012806 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93924 Lobar holoprosencephaly HP:0045005 ORPHA:93924 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000478 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000601 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001508 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001510 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002033 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0004322 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0011968 ORPHA:93925 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000161 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000175 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000193 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000218 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000252 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000407 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000457 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000708 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000716 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000737 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000739 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000741 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001249 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001250 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001254 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001257 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001328 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001344 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002013 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002015 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002019 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002020 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002270 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002363 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002451 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002540 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002793 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002871 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0005968 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0006528 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0006979 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0007018 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0007301 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0008947 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0010654 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0011442 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0011951 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0012285 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0040327 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0045005 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0100704 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000119 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000238 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000256 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000818 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000824 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000871 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000873 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0000924 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001274 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001371 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0001627 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002465 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002650 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0002827 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0006315 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0009062 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0009914 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0009932 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0011471 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0011787 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0012718 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0012806 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0031860 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93925 Alobar holoprosencephaly HP:0040064 ORPHA:93925 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000137 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000470 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000823 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000837 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000879 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000938 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000939 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001510 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001511 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002750 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002967 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0003492 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0004322 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0006610 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0006709 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0008209 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0008222 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0008897 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0012774 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0040072 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0100625 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0008209 ORPHA:99226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000218 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000278 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000347 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000365 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000369 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000403 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000465 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000474 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000475 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000708 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000739 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000758 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000786 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000822 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001952 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000869 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000872 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000914 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001328 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001397 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001513 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001531 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001800 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002162 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002705 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002808 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002857 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002910 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0005113 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0005689 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0006438 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0006456 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0007477 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0009759 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0010044 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0010047 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0010510 ORPHA:99226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000085 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000086 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000164 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000286 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000476 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000486 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000508 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000545 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000716 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000767 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000842 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000987 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000995 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001004 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001045 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001231 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001385 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001395 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001596 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001631 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001647 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001657 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001658 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001680 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001763 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001812 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001831 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002608 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002611 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002650 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002960 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0003067 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0003186 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0003764 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0004349 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0005603 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0005978 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0007018 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0003077 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0008572 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0009118 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0011307 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0012434 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0100646 ORPHA:99226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000150 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0000471 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0001394 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002037 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002613 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002647 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0002861 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0004383 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0004386 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0005294 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0008678 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99226 Monosomy X HP:0012758 ORPHA:99226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0000737 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001254 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001263 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001298 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001324 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001638 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001985 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001987 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002093 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002240 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002615 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002910 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0003162 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0003201 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0003215 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0003234 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0004756 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0008331 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0011675 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0003011 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0045045 ORPHA:159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0000252 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0000639 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0000961 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001250 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001259 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0001399 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002045 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0002882 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0100520 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0030067 ORPHA:370348 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0000473 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0000952 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0000989 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001250 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001265 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001541 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001733 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001824 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001892 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001903 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0001965 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002017 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002039 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002315 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002321 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002574 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0002894 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0003270 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0003418 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0003474 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0007340 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0010302 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0010784 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0012513 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0030692 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0031030 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0031501 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0100608 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0100615 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0100711 ORPHA:370348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0000520 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0000826 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0006254 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0011932 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0025435 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370348 Peripheral primitive neuroectodermal tumor HP:0100849 ORPHA:370348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000137 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000470 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000823 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000837 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000879 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000938 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000939 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001510 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001511 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002750 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002967 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0003492 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0004322 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0006610 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0006709 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0008209 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0008222 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0008897 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0012774 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0040072 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0100625 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0008209 ORPHA:99228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000218 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000278 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000347 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000365 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000369 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000403 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000465 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000474 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000475 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000708 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000739 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000758 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000786 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000822 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001952 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000869 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000872 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000914 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001328 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001397 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001513 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001531 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001800 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002162 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002705 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002808 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002857 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002910 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0005113 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0005689 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0006438 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0006456 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0007477 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0009759 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0010044 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0010047 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0010510 ORPHA:99228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000085 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000086 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000164 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000286 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000476 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000486 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000508 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000545 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000716 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000767 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000842 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000987 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000995 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001004 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001045 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001231 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001385 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001395 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001596 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001631 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001647 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001657 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001658 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001680 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001763 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001812 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001831 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002608 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002611 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002650 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002960 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0003067 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0003186 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0003764 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0004349 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0005603 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0005978 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0007018 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0003077 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0008572 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0009118 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0011307 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0012434 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0100646 ORPHA:99228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000150 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0000471 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0001394 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002037 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002613 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002647 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0002861 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0004383 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0004386 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0005294 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0008678 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99228 Mosaic monosomy X HP:0012758 ORPHA:99228 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:112 Bartter syndrome HP:0001939 ORPHA:112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:112 Bartter syndrome HP:0004322 ORPHA:112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:111 Barth syndrome HP:0001644 ORPHA:111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:111 Barth syndrome HP:0001706 ORPHA:111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:111 Barth syndrome HP:0001874 ORPHA:111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:111 Barth syndrome HP:0008322 ORPHA:111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:114 Auriculoosteodysplasia HP:0000400 ORPHA:114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:114 Auriculoosteodysplasia HP:0000889 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:114 Auriculoosteodysplasia HP:0005916 ORPHA:114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:114 Auriculoosteodysplasia HP:0001385 ORPHA:114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:114 Auriculoosteodysplasia HP:0003019 ORPHA:114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:114 Auriculoosteodysplasia HP:0003042 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:114 Auriculoosteodysplasia HP:0004322 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:114 Auriculoosteodysplasia HP:0006501 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:114 Auriculoosteodysplasia HP:0009906 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:114 Auriculoosteodysplasia HP:0009907 ORPHA:114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0001056 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0002208 ORPHA:113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0002209 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0045075 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0001482 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0002671 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0003777 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0008070 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0009886 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0200102 ORPHA:113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0000400 ORPHA:113 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0000889 ORPHA:113 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0001167 ORPHA:113 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0100720 ORPHA:113 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:113 Bazex-Dupré-Christol syndrome HP:0100777 ORPHA:113 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000003 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000028 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000100 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000135 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000365 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000368 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000426 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000470 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000494 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000512 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000580 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000639 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0000822 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0001162 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0001249 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0001395 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0001513 ORPHA:110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0002167 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0002230 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0003202 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0004322 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0006101 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0008724 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0008736 ORPHA:110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:110 Bardet-Biedl syndrome HP:0010747 ORPHA:110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0001260 ORPHA:228169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0001288 ORPHA:228169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0002015 ORPHA:228169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0002063 ORPHA:228169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0002067 ORPHA:228169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0002075 ORPHA:228169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228169 Autosomal dominant striatal neurodegeneration HP:0100022 ORPHA:228169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0002480 ORPHA:529799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0003265 ORPHA:529799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0006579 ORPHA:529799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0006958 ORPHA:529799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0000407 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0000502 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0001250 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0001276 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0001343 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0001878 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0001945 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0002871 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0003073 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0011968 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0012696 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0032106 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0100021 ORPHA:529799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0003228 ORPHA:529799 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0025331 ORPHA:529799 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529799 Acute bilirubin encephalopathy HP:0040187 ORPHA:529799 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000098 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000189 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000256 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000268 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000343 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000347 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000400 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000445 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000463 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000587 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000767 ORPHA:109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000872 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0000965 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001004 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001009 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001249 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001250 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001252 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001324 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001482 ORPHA:109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001681 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0004942 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001933 ORPHA:109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0001943 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002007 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002167 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002170 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002194 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002250 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002650 ORPHA:109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002664 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002665 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002750 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002858 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0002890 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0003196 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0003198 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0003202 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0003764 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0004322 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0004326 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0004390 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0005306 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0005692 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0007400 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0007565 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0009023 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0010784 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0011304 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0012032 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0100013 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0100026 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0100641 ORPHA:109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0100761 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome HP:0200008 ORPHA:109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0000083 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0000613 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0000716 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0000952 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0000975 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001259 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001289 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001376 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001399 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001635 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001658 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001744 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001864 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001873 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001878 ORPHA:108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001882 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0001945 ORPHA:108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0002017 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0002039 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0002093 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0002240 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0002315 ORPHA:108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0002719 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0002829 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0003326 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0004936 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0005521 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0012378 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0012735 ORPHA:108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0100724 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:108 Babesiosis HP:0100776 ORPHA:108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90000 Erythema elevatum diutinum HP:0000988 ORPHA:90000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90000 Erythema elevatum diutinum HP:0002829 ORPHA:90000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90000 Erythema elevatum diutinum HP:0003326 ORPHA:90000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90000 Erythema elevatum diutinum HP:0008066 ORPHA:90000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90000 Erythema elevatum diutinum HP:0010702 ORPHA:90000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90000 Erythema elevatum diutinum HP:0200029 ORPHA:90000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90000 Erythema elevatum diutinum HP:0200036 ORPHA:90000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90000 Erythema elevatum diutinum HP:0200037 ORPHA:90000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0000076 ORPHA:105 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0000083 ORPHA:105 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0000010 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0000021 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0000072 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0000126 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0001562 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0003270 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0004321 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0010479 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0010955 ORPHA:105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0000110 ORPHA:105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0001541 ORPHA:105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:105 Atresia of urethra HP:0010444 ORPHA:105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0007763 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0000622 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0000648 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0007924 ORPHA:104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0200125 ORPHA:104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0000576 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0000603 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0012841 ORPHA:104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0001251 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0002174 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0003198 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0004309 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0009830 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:104 Leber hereditary optic neuropathy HP:0011675 ORPHA:104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000074 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000083 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000175 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000278 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000365 ORPHA:107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000384 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0008572 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0008678 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0011388 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000003 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000076 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000126 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000402 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0000413 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0004452 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0008586 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0009796 ORPHA:107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0010628 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:107 BOR syndrome HP:0011481 ORPHA:107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0002896 ORPHA:90003 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0031140 ORPHA:90003 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0001945 ORPHA:90003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0002027 ORPHA:90003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0030057 ORPHA:90003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0000819 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0001080 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0001394 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0001824 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0002013 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0002018 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0003270 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0025406 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0410369 ORPHA:90003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0031956 ORPHA:90003 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0031964 ORPHA:90003 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90003 Inflammatory pseudotumor of the liver HP:0006254 ORPHA:90003 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002075 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002073 ORPHA:101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0000597 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0000639 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0000726 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001138 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001152 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001250 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001251 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001260 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001265 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001266 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001310 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0001336 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002066 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002070 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002078 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002345 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0004305 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0010831 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0010867 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0030890 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0100543 ORPHA:101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0000643 ORPHA:101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0002354 ORPHA:101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101 Dentatorubral pallidoluysian atrophy HP:0012048 ORPHA:101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0000035 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0000147 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0000486 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0000496 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0000639 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0000819 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0000823 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0001250 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0001251 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0001257 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0001260 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0001288 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0001337 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0001508 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0001888 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0002167 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0002205 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0002216 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0002664 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0002715 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0002721 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0002910 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0003202 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0003220 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0004313 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0004322 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0005374 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0005599 ORPHA:100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0005978 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0007495 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0007565 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0008065 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0010515 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0100022 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0100543 ORPHA:100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0100579 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100 Ataxia-telangiectasia HP:0100585 ORPHA:100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0000640 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0001260 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0001300 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002019 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002063 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002066 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002067 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002073 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002172 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002174 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002310 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002322 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002359 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0012332 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002494 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0002530 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0004926 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0005341 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0007256 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0008652 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0010307 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0010536 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0012658 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0012670 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0030015 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0030880 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:102 Multiple system atrophy HP:0100595 ORPHA:102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000822 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000842 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000877 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000956 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0001397 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0002155 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0100578 ORPHA:280356 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000789 ORPHA:280356 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0003635 ORPHA:280356 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0003758 ORPHA:280356 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0008981 ORPHA:280356 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0009017 ORPHA:280356 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000147 ORPHA:280356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0000876 ORPHA:280356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0001395 ORPHA:280356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280356 PLIN1-related familial partial lipodystrophy HP:0003117 ORPHA:280356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001010 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001249 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001250 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001252 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001263 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001328 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0002216 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0005599 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0100022 ORPHA:33445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0000545 ORPHA:33445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001337 ORPHA:33445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0000486 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0000587 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0000639 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0000648 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001251 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001257 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001276 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0001321 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0002063 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0002120 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0002205 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0002334 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0003552 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0007440 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0007754 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0008059 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0012157 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33445 Neuroectodermal melanolysosomal disease HP:0100308 ORPHA:33445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0003037 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0006202 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0006378 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0008095 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0010044 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50809 Talo-patello-scaphoid osteolysis HP:0100769 ORPHA:50809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001941 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001942 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001945 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0002013 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0002149 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0002789 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0002919 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0011446 ORPHA:134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0000741 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001259 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001262 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001894 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001944 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001974 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001987 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001993 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0002014 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0004372 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0012735 ORPHA:134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0000713 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0000822 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0000969 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0000980 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001250 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001251 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001252 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001257 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001265 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001270 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001824 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001943 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0002039 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0002151 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0002240 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0002615 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0003074 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0007308 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0012523 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0012705 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0500001 ORPHA:134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0001256 ORPHA:134 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:134 Beta-ketothiolase deficiency HP:0010864 ORPHA:134 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0002795 ORPHA:133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0006516 ORPHA:133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0100326 ORPHA:133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0001824 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0002093 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0002094 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0005607 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0006527 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0012378 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0012735 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0025179 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0025393 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0025439 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0030877 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0030878 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0031392 ORPHA:133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0002206 ORPHA:133 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0100721 ORPHA:133 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:133 Chronic beryllium disease HP:0011121 ORPHA:133 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000347 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000418 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000819 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000855 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000991 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0002155 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0002216 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0002240 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003712 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003717 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003758 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0005328 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0008065 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0009125 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0100578 ORPHA:280365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000147 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000287 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000311 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000468 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000869 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000956 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000963 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001397 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001597 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001870 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0002621 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003233 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003292 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003635 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0004416 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0004943 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0006288 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0008968 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0008993 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0009771 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0030685 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0040266 ORPHA:280365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001635 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001639 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001677 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001733 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0001744 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0002230 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003198 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0003326 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0005115 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0005150 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0100607 ORPHA:280365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy HP:0004308 ORPHA:280365 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002352 ORPHA:136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002500 ORPHA:136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0032325 ORPHA:136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0040329 ORPHA:136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000741 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001297 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000712 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002076 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002077 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002326 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002637 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0100543 ORPHA:136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000716 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000726 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000739 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000819 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000822 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001250 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001257 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001260 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001288 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001289 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001298 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001300 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0001342 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002015 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002140 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002170 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002301 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002333 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002354 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002463 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0007185 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0007236 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0010794 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0010992 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0012444 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0031843 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0100545 ORPHA:136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002381 ORPHA:136 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0006978 ORPHA:135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0410263 ORPHA:135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000648 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000737 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001250 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001257 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001272 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001347 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0002059 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0002070 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0002078 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0002344 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0006855 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0007366 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0008209 ORPHA:135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000089 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000133 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000252 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000518 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000618 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000708 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000741 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000786 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0000869 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001260 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001264 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001269 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001270 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001298 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001310 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001371 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001433 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001510 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001511 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001558 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001562 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0001733 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0002013 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0002015 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0002076 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0002315 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0002804 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0006956 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0007361 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0008288 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0008947 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0011342 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0011968 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0012690 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0012704 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0032398 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0100543 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0100653 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:135 CACH syndrome HP:0004481 ORPHA:135 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0000407 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0000648 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0000750 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0001260 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0001284 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0001310 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002066 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002073 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002075 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002080 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002460 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0002828 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0003487 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0007108 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0007141 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0008568 ORPHA:504476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0011712 ORPHA:130 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0012251 ORPHA:130 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0001649 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0001663 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0004751 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0004755 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0011704 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0011705 ORPHA:130 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0004308 ORPHA:130 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0011715 ORPHA:130 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0001279 ORPHA:130 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:130 Brugada syndrome HP:0001695 ORPHA:130 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:132 Butyrylcholinesterase deficiency HP:0012379 ORPHA:132 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:132 Butyrylcholinesterase deficiency HP:0002878 ORPHA:132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:132 Butyrylcholinesterase deficiency HP:0001392 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:132 Butyrylcholinesterase deficiency HP:0001635 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:132 Butyrylcholinesterase deficiency HP:0001658 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:132 Butyrylcholinesterase deficiency HP:0002664 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:132 Butyrylcholinesterase deficiency HP:0003470 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:132 Butyrylcholinesterase deficiency HP:0004887 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:132 Butyrylcholinesterase deficiency HP:0031035 ORPHA:132 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0000952 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0001082 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0001394 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0001409 ORPHA:131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0001541 ORPHA:131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0001744 ORPHA:131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0001824 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0001945 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0002024 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0002027 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0002040 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0002239 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0002240 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0002586 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0002910 ORPHA:131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0005214 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0005244 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:131 Budd-Chiari syndrome HP:0006554 ORPHA:131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0000121 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0000128 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0000729 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0001263 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0002133 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0002194 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0002197 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0002465 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0002917 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0005567 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0006872 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0012726 ORPHA:564178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0000164 ORPHA:300493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0001999 ORPHA:300493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0003165 ORPHA:300493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0004322 ORPHA:300493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0000716 ORPHA:300493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0002515 ORPHA:300493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0002814 ORPHA:300493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0005101 ORPHA:300493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0000739 ORPHA:300493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0001167 ORPHA:300493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0002007 ORPHA:300493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0002829 ORPHA:300493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300493 Sagliker syndrome HP:0100649 ORPHA:300493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000028 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000046 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000135 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000202 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000252 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000256 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000280 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000336 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000365 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000490 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000508 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000518 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000574 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000581 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000639 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000771 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001182 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001249 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001250 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001252 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001769 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001831 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001836 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0001956 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0003202 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0003272 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0004322 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0005692 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0008070 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0008734 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0008736 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0008872 ORPHA:127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0009748 ORPHA:127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0009830 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000286 ORPHA:126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000486 ORPHA:126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000581 ORPHA:126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0011481 ORPHA:126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0008209 ORPHA:126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000508 ORPHA:126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000545 ORPHA:126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000639 ORPHA:126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000664 ORPHA:126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0005280 ORPHA:126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:129 Pseudopelade of Brocq HP:0001581 ORPHA:129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:129 Pseudopelade of Brocq HP:0001595 ORPHA:129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:129 Pseudopelade of Brocq HP:0001596 ORPHA:129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:129 Pseudopelade of Brocq HP:0001597 ORPHA:129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:129 Pseudopelade of Brocq HP:0002209 ORPHA:129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:129 Pseudopelade of Brocq HP:0100725 ORPHA:129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:129 Pseudopelade of Brocq HP:0100825 ORPHA:129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:129 Pseudopelade of Brocq HP:0100840 ORPHA:129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:129 Pseudopelade of Brocq HP:0200034 ORPHA:129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:123 Björnstad syndrome HP:0000407 ORPHA:123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:123 Björnstad syndrome HP:0001596 ORPHA:123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:123 Björnstad syndrome HP:0002299 ORPHA:123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:123 Björnstad syndrome HP:0000135 ORPHA:123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:123 Björnstad syndrome HP:0001249 ORPHA:123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:122 Birt-Hogg-Dubé syndrome HP:0001012 ORPHA:122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:122 Birt-Hogg-Dubé syndrome HP:0002097 ORPHA:122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:122 Birt-Hogg-Dubé syndrome HP:0002107 ORPHA:122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:122 Birt-Hogg-Dubé syndrome HP:0002865 ORPHA:122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:122 Birt-Hogg-Dubé syndrome HP:0002897 ORPHA:122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:122 Birt-Hogg-Dubé syndrome HP:0005584 ORPHA:122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:122 Birt-Hogg-Dubé syndrome HP:0007703 ORPHA:122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:122 Birt-Hogg-Dubé syndrome HP:0010609 ORPHA:122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:122 Birt-Hogg-Dubé syndrome HP:0100632 ORPHA:122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:122 Birt-Hogg-Dubé syndrome HP:0200034 ORPHA:122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0001510 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0001511 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0001518 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002715 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0004313 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0008850 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0008887 ORPHA:125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000272 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000275 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000278 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000347 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000388 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000855 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000957 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000988 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000992 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0001010 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002020 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002664 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002719 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002720 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002850 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0003251 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0004315 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0004396 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0008209 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0031393 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0032218 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0040195 ORPHA:125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000010 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000027 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000554 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000653 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000798 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000819 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0001009 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0001029 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0001818 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002090 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002232 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002665 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002863 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0004808 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0005353 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0006510 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0006721 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0006758 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0008066 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0008069 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0011110 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0011471 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0011947 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0012384 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0012387 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0012743 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0020105 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0025615 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0031123 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0032170 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0100013 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0100273 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0100825 ORPHA:125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0000488 ORPHA:125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002667 ORPHA:125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0002878 ORPHA:125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0012126 ORPHA:125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:125 Bloom syndrome HP:0100751 ORPHA:125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0012410 ORPHA:124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0030270 ORPHA:124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000234 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000980 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001254 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001510 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001518 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001896 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0005518 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0005532 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0011904 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0012133 ORPHA:124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000047 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000085 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000104 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000119 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000185 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000218 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000465 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000470 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000912 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001199 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001227 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001627 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001629 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001631 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001882 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001895 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0002817 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0002863 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0004322 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0009777 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0009778 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0009944 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0012758 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0020118 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0410030 ORPHA:124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000252 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000286 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000294 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000316 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000347 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000369 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000431 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000486 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000508 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0000519 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001087 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001680 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001790 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001873 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001875 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0001894 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0002669 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0004808 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0005280 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0006758 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0008551 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:124 Blackfan-Diamond anemia HP:0040276 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0004756 ORPHA:45453 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0001635 ORPHA:45453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0001695 ORPHA:45453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0006677 ORPHA:45453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0011710 ORPHA:45453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0031595 ORPHA:45453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0001557 ORPHA:45453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0004755 ORPHA:45453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0005152 ORPHA:45453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0009729 ORPHA:45453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0001716 ORPHA:45453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45453 Incessant infant ventricular tachycardia HP:0025169 ORPHA:45453 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0010885 ORPHA:399180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0001376 ORPHA:399180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0002653 ORPHA:399180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0002960 ORPHA:399180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0030955 ORPHA:399180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0001370 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0002355 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0002664 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0002725 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0003549 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0004377 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0031520 ORPHA:399180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399180 Secondary non-traumatic avascular necrosis HP:0100724 ORPHA:399180 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0003115 ORPHA:45452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0004755 ORPHA:45452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0005150 ORPHA:45452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0011675 ORPHA:45452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0002789 ORPHA:45452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0004763 ORPHA:45452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0005162 ORPHA:45452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0012664 ORPHA:45452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0025074 ORPHA:45452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0001520 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0001789 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0002098 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0008872 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0009800 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45452 Idiopathic neonatal atrial flutter HP:0025116 ORPHA:45452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49804 Lichen amyloidosis HP:0000989 ORPHA:49804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49804 Lichen amyloidosis HP:0200034 ORPHA:49804 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0007126 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0008944 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0011399 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0200101 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0030051 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0003551 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0003738 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0008963 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0008994 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0031108 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0002747 ORPHA:45448 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0002505 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0003731 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0003749 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0003698 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0002355 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0007149 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0008954 ORPHA:45448 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0003547 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0009027 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0009053 ORPHA:45448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0003326 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0003552 ORPHA:45448 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0001626 ORPHA:45448 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:45448 Miyoshi myopathy HP:0008981 ORPHA:45448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0001945 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0002922 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0011972 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0012229 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0025258 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0031179 ORPHA:33475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0000613 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0000967 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0000988 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0002039 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0002315 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0002587 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0004372 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0011227 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0100806 ORPHA:33475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0000083 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0000236 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0000365 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0000737 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0000979 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0001085 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0001250 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0001254 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0002329 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0002516 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0002615 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0003401 ORPHA:33475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0001297 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0002045 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0002383 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0002643 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0006824 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0011880 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:33475 Meningococcal meningitis HP:0031273 ORPHA:33475 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0000750 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0002058 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0002136 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0002355 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0002515 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0003198 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0003236 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0003391 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0003557 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0003749 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0008981 ORPHA:119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0001638 ORPHA:119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0002913 ORPHA:119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000098 ORPHA:116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001520 ORPHA:116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0002664 ORPHA:116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000105 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000112 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000154 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000158 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000269 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000280 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000303 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000363 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000520 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000776 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000995 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001052 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001139 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001513 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001528 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001537 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001539 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001561 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001582 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001622 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001738 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001943 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001998 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0002150 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0003271 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0005616 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0006267 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0008523 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0009908 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0011800 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0030720 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0100555 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0100876 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000309 ORPHA:116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000023 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000028 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000073 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000076 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000150 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000175 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000239 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000260 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000329 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000362 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000787 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000821 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001540 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001639 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001640 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001744 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0001901 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0002167 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0002240 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0030680 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0002667 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0002859 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0002884 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0003006 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0005487 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0005562 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0006254 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0006744 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0008186 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0008676 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0008872 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0010535 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0012090 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0012758 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0030255 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0100243 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0100589 ORPHA:116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0000852 ORPHA:116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:116 Beckwith-Wiedemann syndrome HP:0002308 ORPHA:116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0000218 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0001083 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0001166 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0001371 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0001387 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0001519 ORPHA:115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0001533 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0001634 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0004942 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0002247 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0030680 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0002566 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0002575 ORPHA:115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0002650 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0002803 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0002804 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0003011 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0008453 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0008544 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0009901 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:115 Congenital contractural arachnodactyly HP:0100490 ORPHA:115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0001030 ORPHA:251393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0008066 ORPHA:251393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0002215 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0002225 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0004529 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0006297 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0008404 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0009722 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0011073 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0031045 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0032156 ORPHA:251393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0001057 ORPHA:251393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0001810 ORPHA:251393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0004552 ORPHA:251393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0008391 ORPHA:251393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0000987 ORPHA:251393 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0001056 ORPHA:251393 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0003121 ORPHA:251393 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251393 Localized junctional epidermolysis bullosa HP:0004057 ORPHA:251393 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:118 Beta-mannosidosis HP:0000365 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:118 Beta-mannosidosis HP:0001249 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:118 Beta-mannosidosis HP:0001250 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:118 Beta-mannosidosis HP:0001999 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:118 Beta-mannosidosis HP:0002205 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:118 Beta-mannosidosis HP:0005247 ORPHA:118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0000083 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0000155 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0000488 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0000518 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0000613 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0000708 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001061 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001097 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001250 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001251 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001269 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001347 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001369 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001482 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001637 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001653 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001659 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001701 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001744 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001824 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002039 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002076 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002102 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002105 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002202 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002239 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002354 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002383 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002516 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002633 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002829 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0003326 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0003401 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0004936 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0006824 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0007256 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0010885 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0011107 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0012378 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0012649 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0100326 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0100614 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0100653 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0100654 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0100758 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0100820 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0000618 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0000737 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001287 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001288 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001289 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001658 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001733 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0001945 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002017 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002024 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002027 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002113 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002204 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002321 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002376 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002637 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0002716 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0004420 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0008066 ORPHA:117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0100584 ORPHA:117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0100796 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:117 Behçet disease HP:0200034 ORPHA:117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0001344 ORPHA:280384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0002376 ORPHA:280384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0003121 ORPHA:280384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0010864 ORPHA:280384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000154 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000158 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0002373 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0002987 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0006380 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0006466 ORPHA:280384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000218 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000322 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000574 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000664 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0002015 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0002378 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0007350 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0011448 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0000377 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0100712 ORPHA:280384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0001945 ORPHA:228123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002090 ORPHA:228123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002721 ORPHA:228123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0003237 ORPHA:228123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0003496 ORPHA:228123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000707 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000987 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000988 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000989 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0001369 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0001880 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002098 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002105 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002113 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002716 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002922 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0003326 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0011450 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0011919 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0011921 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0011972 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0012219 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0012229 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0012282 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0012378 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0012490 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0012500 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0012735 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0025084 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0025615 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0030351 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0032177 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0032217 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0032252 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0100721 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0100749 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0200034 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0200035 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0200149 ORPHA:228123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000014 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000077 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000083 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000119 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000238 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000365 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000479 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000613 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000622 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000751 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000818 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000885 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0000925 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0005916 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0001250 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0001392 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0001701 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0001733 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0001743 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0001783 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0001871 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002315 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002586 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002633 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002637 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002682 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002754 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0002797 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0010460 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0010461 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0011314 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0012864 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0020101 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0025637 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0031179 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0032161 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228123 Coccidioidomycosis HP:0100543 ORPHA:228123 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000750 ORPHA:96148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001249 ORPHA:96148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001263 ORPHA:96148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001328 ORPHA:96148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001999 ORPHA:96148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000219 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000356 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000431 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000486 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000708 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000805 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001508 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002280 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002395 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002465 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002719 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0008897 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0008947 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0030084 ORPHA:96148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000076 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000085 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000119 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000175 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000218 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000252 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000286 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000319 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000324 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000347 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000369 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000426 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000448 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000483 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000545 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000582 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000657 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000718 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000954 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001156 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001182 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001250 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001257 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001321 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001349 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001622 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001631 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001643 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001763 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001852 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002169 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002317 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002360 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002389 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0004209 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0004322 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0005709 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0006956 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0007010 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0007018 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0007068 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0008081 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0008527 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0010743 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0011968 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000009 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000248 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000325 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000337 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000341 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000349 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000411 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000494 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000520 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000601 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000739 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0000767 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001212 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001251 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001363 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001385 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001800 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0001919 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002007 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002023 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002827 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0002938 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0003196 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0003298 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0003691 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0005487 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0008554 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96148 Distal monosomy 10q HP:0011376 ORPHA:96148 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000232 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000248 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000316 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000463 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001249 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001252 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001263 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001328 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002300 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002381 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002381 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002553 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0003196 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0005469 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0010529 ORPHA:96147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000028 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000035 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000158 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000252 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000664 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000717 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001250 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001513 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001671 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002121 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002133 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002714 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0010808 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0011097 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0011800 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000023 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000076 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000083 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000365 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000708 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000716 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000737 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000739 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000741 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001274 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001331 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001508 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001510 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001636 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001650 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001659 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001680 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0001710 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002119 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002120 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0002360 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0008736 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0011968 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0012157 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0100308 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0100541 ORPHA:96147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0000750 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001260 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001310 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0002066 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0002080 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0002194 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0010862 ORPHA:208513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0000570 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0000639 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0000657 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001270 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001272 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001290 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0002075 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0006855 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0012434 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0100543 ORPHA:208513 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001251 ORPHA:208513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0001263 ORPHA:208513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208513 Spinocerebellar ataxia type 29 HP:0025405 ORPHA:208513 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000218 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000252 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000272 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000275 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000276 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000286 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000308 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000358 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000426 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000486 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000582 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000678 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000737 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000750 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0001249 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0001250 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0001263 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0001302 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0001533 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0002126 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0002381 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0002360 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0002538 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0002751 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0002938 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0007874 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0010511 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0025406 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0100807 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000708 ORPHA:251383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000718 ORPHA:251383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0000752 ORPHA:251383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0001290 ORPHA:251383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0001382 ORPHA:251383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251383 CK syndrome HP:0003107 ORPHA:251383 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002194 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0012368 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000369 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0009437 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0012741 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0004904 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000113 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001611 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001999 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001513 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000248 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0009904 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002705 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000319 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001792 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000280 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000171 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001176 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001833 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0011407 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000252 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0010818 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001249 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000819 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0004322 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000752 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0007328 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0008770 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000742 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000086 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002893 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000347 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0008551 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002987 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002751 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000054 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000750 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001510 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000260 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000954 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0004691 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001643 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001655 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0005129 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0008499 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0007573 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0008513 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001531 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000506 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0009891 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000343 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000161 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0011069 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000256 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000494 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002021 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000414 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000463 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002213 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0004209 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0008081 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002032 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002247 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001734 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0005912 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002007 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0005819 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001845 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000126 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000076 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0006533 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001263 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0001290 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0002003 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0000470 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96149 Distal monosomy 12q HP:0010055 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0011904 ORPHA:251380 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0045047 ORPHA:251380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0000488 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0001744 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0001746 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0001923 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0002027 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0002113 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0002829 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0004840 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0008346 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0032169 ORPHA:251380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0000708 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0000712 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0000716 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0000739 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0001328 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0002360 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0002549 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0007018 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0011458 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0030223 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0040264 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280397 Familial Alzheimer-like prion disease HP:0100543 ORPHA:280397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000316 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001249 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001999 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0006818 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0011451 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0045028 ORPHA:89844 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000269 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000308 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000340 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000341 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000350 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000369 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000431 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000445 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001250 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001511 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002683 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0003808 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0011344 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0011968 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0012736 ORPHA:89844 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000268 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0000479 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001181 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001272 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001274 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001631 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001655 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0001838 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002015 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002079 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002098 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002269 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0002514 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type HP:0006270 ORPHA:89844 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000987 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001030 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001510 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001903 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0004325 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0008066 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0031903 ORPHA:89842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000670 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001056 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001508 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001581 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002015 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002019 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002020 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002031 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002043 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0003073 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0003202 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0003234 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0004395 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0007400 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0010450 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0011968 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0031831 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0032676 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0040303 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0100512 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0200041 ORPHA:89842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000160 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000572 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000716 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000739 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000823 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001057 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001371 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001644 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001798 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0001802 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002164 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0003764 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0004057 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0010296 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0011471 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0012390 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0200020 ORPHA:89842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0002860 ORPHA:89842 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0000989 ORPHA:89843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0008066 ORPHA:89843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0003019 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0008404 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0009811 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0012221 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0100725 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0200035 ORPHA:89843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0000152 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0000962 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0001056 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0001075 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0001482 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0002973 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0003341 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0004334 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0008388 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0100699 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0200034 ORPHA:89843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa HP:0003212 ORPHA:89843 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001371 ORPHA:440713 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0002804 ORPHA:440713 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0012768 ORPHA:440713 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000023 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000083 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000091 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000239 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000256 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000348 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000586 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0000601 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001385 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001396 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001409 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001540 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001623 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0001903 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0002119 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0002570 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0002611 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0004322 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0004840 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0008850 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0011400 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0011998 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0012115 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0012157 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440713 Isolated sedoheptulokinase deficiency HP:0100886 ORPHA:440713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0000496 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0000726 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0000743 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001249 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001263 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001272 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001300 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001332 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001337 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002059 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002063 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002067 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002313 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002360 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002448 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0012332 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0002465 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0012675 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0012678 ORPHA:329284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0000648 ORPHA:329284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0000718 ORPHA:329284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329284 Beta-propeller protein-associated neurodegeneration HP:0001250 ORPHA:329284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000509 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000554 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000708 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000978 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000988 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001034 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001055 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001369 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001637 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001701 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001744 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001954 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0001974 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002013 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002014 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002019 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002027 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002076 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002102 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002321 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002586 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002633 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002716 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0002829 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0003326 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0003401 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0003565 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0005214 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0006824 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0010783 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0011227 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0012733 ORPHA:32960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100537 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100539 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100614 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100658 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100749 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100776 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100781 ORPHA:32960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome HP:0100796 ORPHA:32960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98797 Isochromosomy Yp HP:0000027 ORPHA:98797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98797 Isochromosomy Yp HP:0000062 ORPHA:98797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98797 Isochromosomy Yp HP:0000771 ORPHA:98797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98797 Isochromosomy Yp HP:0003251 ORPHA:98797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98797 Isochromosomy Yp HP:0008193 ORPHA:98797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98797 Isochromosomy Yp HP:0008734 ORPHA:98797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98798 Isochromosomy Yq HP:0000027 ORPHA:98798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98798 Isochromosomy Yq HP:0000062 ORPHA:98798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98798 Isochromosomy Yq HP:0000771 ORPHA:98798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98798 Isochromosomy Yq HP:0003248 ORPHA:98798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98798 Isochromosomy Yq HP:0003251 ORPHA:98798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98798 Isochromosomy Yq HP:0008193 ORPHA:98798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98798 Isochromosomy Yq HP:0008734 ORPHA:98798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98798 Isochromosomy Yq HP:0012871 ORPHA:98798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000028 ORPHA:98793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001513 ORPHA:98793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002119 ORPHA:98793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0008872 ORPHA:98793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000044 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000046 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000060 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000064 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000486 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000504 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000708 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000709 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000717 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000729 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000786 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000789 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000819 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000823 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000824 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001010 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001252 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001263 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001328 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001508 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001773 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002205 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002342 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002360 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002591 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002650 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0003241 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0004322 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0005599 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0007730 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0007874 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0008734 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0008770 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0009088 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0010627 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0011734 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0011787 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012104 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012105 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012166 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012411 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012412 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0012650 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0025160 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0030339 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0031507 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0100716 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0100739 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0200055 ORPHA:98793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000938 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000939 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001250 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001256 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001385 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001518 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0001558 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002578 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002714 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002870 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0002871 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0006889 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0010741 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0010829 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0031100 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0031169 ORPHA:98793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000826 ORPHA:98793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001250 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001263 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002353 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0004485 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0005484 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0011203 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0012758 ORPHA:98794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000154 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000486 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000687 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000729 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000736 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000748 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000752 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001010 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001513 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002019 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002033 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002079 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002167 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002307 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002395 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002650 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0004302 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0005469 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0005599 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0007730 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0008947 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0010808 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0010864 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0011968 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0012448 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0040082 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0100703 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0100738 ORPHA:98794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0000303 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001251 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001336 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001337 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0001344 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002015 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002046 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002136 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002141 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0002465 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0010505 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0040196 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0100022 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion HP:0100023 ORPHA:98794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0000154 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0000687 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0001010 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0001249 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0001250 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0001263 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002353 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002395 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002465 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0005599 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0007730 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0010808 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0011968 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0100703 ORPHA:98795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0000303 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002015 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002033 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002046 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002069 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002136 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002141 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0002167 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0004485 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0005484 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0007270 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0008947 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0011185 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0025190 ORPHA:98795 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000028 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000047 ORPHA:98791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000218 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000252 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000272 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000278 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000286 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000316 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000337 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000347 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000348 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000368 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000431 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000470 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000494 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000768 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000978 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001249 ORPHA:98791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001252 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001371 ORPHA:98791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001508 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001762 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001831 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0001935 ORPHA:98791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0002007 ORPHA:98791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0002167 ORPHA:98791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0004322 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0009891 ORPHA:98791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0009906 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0011903 ORPHA:98791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0012378 ORPHA:98791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0100840 ORPHA:98791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0010876 ORPHA:264675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0001531 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0002091 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0002098 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0004887 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0012418 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0025391 ORPHA:264675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0001649 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0002789 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0003651 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0011949 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0012735 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0030057 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0030830 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264675 Hereditary pulmonary alveolar proteinosis HP:0031029 ORPHA:264675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0000962 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0000972 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001231 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0007446 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0008066 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0008388 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0200041 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0200097 ORPHA:89838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0000953 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0000989 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001010 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001056 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001075 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001508 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001802 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001807 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0001810 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0003764 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0007589 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex HP:0031464 ORPHA:89838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001249 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001510 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001511 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0002910 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001263 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0031831 ORPHA:541423 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001252 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001344 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001395 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001396 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001397 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0002719 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0011968 ORPHA:541423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000081 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000126 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000252 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000293 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000311 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000407 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000729 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000819 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000974 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001027 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001250 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001257 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001388 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001399 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001433 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0001562 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0006129 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0010648 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0011342 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0100511 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0100633 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0410263 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000164 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000202 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000272 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000286 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000316 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000319 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000322 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000337 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000347 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000365 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000369 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000430 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000445 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000463 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000486 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000494 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000501 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000593 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000627 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0000750 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0001256 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0001263 ORPHA:96125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0001631 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0001762 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0001773 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0002119 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0002650 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0002714 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0003422 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0004209 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0004279 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0005280 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0005930 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0007676 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0007957 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0008499 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0009918 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0011483 ORPHA:96125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96125 Distal monosomy 6p HP:0100716 ORPHA:96125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000194 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000218 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000233 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000269 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000278 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000286 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000343 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000348 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000368 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000445 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000470 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000606 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000664 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000954 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0001249 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0002858 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0004209 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0012368 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0045025 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0100008 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0100242 ORPHA:96123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000054 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000252 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0000975 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0008070 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0001051 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0001072 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0001217 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0001276 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0001386 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0001433 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0004840 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0005272 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0005359 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0005781 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0006101 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0008066 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0010541 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0010785 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96123 Monosomy 22 HP:0100324 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0000175 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0000276 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0000322 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0000327 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0000368 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0000405 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0000407 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0000574 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0001166 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0001249 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0001250 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0001252 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0001263 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0001537 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0001596 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0001629 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0001704 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0004313 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0005692 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0010511 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0010562 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0010882 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96129 Distal monosomy 19p13.3 HP:0100672 ORPHA:96129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0031951 ORPHA:98784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0000733 ORPHA:98784 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0002268 ORPHA:98784 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0004305 ORPHA:98784 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0000020 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0000716 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0000739 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0002883 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0011174 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0011182 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0011193 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0025236 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0025237 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0031535 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0031589 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0100543 ORPHA:98784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0000708 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0001256 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0001345 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0002069 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0007018 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy HP:0025235 ORPHA:98784 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000750 ORPHA:96121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000218 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000219 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000248 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000256 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000268 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000278 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000322 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000337 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000347 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000363 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000368 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000455 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000490 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000527 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000689 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000699 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000739 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000752 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000776 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000954 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001256 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001270 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001290 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001310 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001321 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001363 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0004942 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001999 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002011 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002119 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002317 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002342 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0009879 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0009929 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0012450 ORPHA:96121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000023 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000028 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000200 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000233 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000316 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000348 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000389 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000396 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000565 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000718 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000733 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000735 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000753 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000965 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001250 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001382 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001510 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001513 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001643 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002300 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002307 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002360 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002591 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0004322 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0004768 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0009748 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0010794 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0010864 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0011228 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0011333 ORPHA:96121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000047 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000122 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000126 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000238 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000311 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000365 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000470 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000483 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000486 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000577 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000767 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000805 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000957 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0000960 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001629 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001631 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001650 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0001763 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002779 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002937 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0002967 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0007772 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0008655 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0008684 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0012795 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0030212 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0045025 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0100716 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96121 7q11.23 microduplication syndrome HP:0100807 ORPHA:96121 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0000975 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0001824 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0002353 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0002380 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0002411 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0003394 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0003552 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0008981 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0010546 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0100288 ORPHA:84142 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0002936 ORPHA:84142 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:84142 Isaacs syndrome HP:0001324 ORPHA:84142 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0001945 ORPHA:228116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0002017 ORPHA:228116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0002092 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0002094 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0002105 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0002204 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0002315 ORPHA:228116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0002516 ORPHA:228116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0002633 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0004936 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0004937 ORPHA:228116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0006543 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0010741 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0012378 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0012735 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0100545 ORPHA:228116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0100576 ORPHA:228116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228116 Hughes-Stovin syndrome HP:0100749 ORPHA:228116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0020153 ORPHA:228119 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0000246 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0001875 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0001945 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0002090 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0002721 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0011356 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0012203 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0020101 ORPHA:228119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0001482 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0001818 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0001888 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0002105 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0002113 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0002202 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0003326 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0004377 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0006516 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0025179 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0031245 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0031457 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0032177 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0032252 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0040186 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0100749 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0200034 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0200042 ORPHA:228119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0000077 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0000479 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0000491 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0001369 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0001392 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0001743 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0002110 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0002586 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0002754 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0008066 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0011450 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0012490 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0025044 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0030049 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0032156 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0032172 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0100537 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0100614 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0100658 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:228119 Fusariosis HP:0410017 ORPHA:228119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0000003 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0000008 ORPHA:991 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0000035 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0000062 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0000130 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0000252 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0000648 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0000772 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0000776 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0000889 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0001522 ORPHA:991 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0001539 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0001645 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0001679 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0001696 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0001743 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0002084 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0002089 ORPHA:991 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0002269 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0002414 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0002435 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0030680 ORPHA:991 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0004322 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0004383 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0004414 ORPHA:991 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0004971 ORPHA:991 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0008633 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0008678 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0010458 ORPHA:991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0011675 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:991 PAGOD syndrome HP:0100555 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0000028 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0000175 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0000316 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0000347 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0000358 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0000476 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0001059 ORPHA:994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0001262 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0001305 ORPHA:994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0001511 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0001561 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0001989 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0002089 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0002093 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0002304 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0002375 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0002650 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0002804 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0002828 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0003700 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0005245 ORPHA:994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0005280 ORPHA:994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0010489 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:994 Fetal akinesia deformation sequence HP:0100490 ORPHA:994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0000278 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0000486 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0000684 ORPHA:166272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0000703 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0000774 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0000926 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0000944 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0001522 ORPHA:166272 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0001643 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0002007 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0002098 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0002650 ORPHA:166272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0002673 ORPHA:166272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0002983 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0003196 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0003278 ORPHA:166272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0004279 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0004322 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0005280 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0005692 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0006487 ORPHA:166272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166272 Odontochondrodysplasia HP:0010579 ORPHA:166272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0000160 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0000171 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0000368 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0000478 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0001274 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0001291 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0001360 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0001561 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0001696 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0002098 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0007360 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0008736 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0009914 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0009924 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0009939 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0011386 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0100596 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0100663 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome HP:0100840 ORPHA:990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0008278 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0002355 ORPHA:171622 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0001256 ORPHA:171622 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0007361 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0007020 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0002395 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0001328 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0007133 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0002079 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0001761 ORPHA:171622 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0002191 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0002166 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171622 Autosomal recessive spastic paraplegia type 32 HP:0003487 ORPHA:171622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000028 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000065 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000158 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000212 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000218 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000237 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000269 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000271 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000278 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000347 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000363 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000448 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000586 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000826 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0000857 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001511 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001537 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001562 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001629 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001640 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001804 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001944 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0002123 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0002240 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0002643 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0008897 ORPHA:96191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001388 ORPHA:96191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0001643 ORPHA:96191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0010866 ORPHA:96191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96191 Paternal uniparental disomy of chromosome 6 HP:0100767 ORPHA:96191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0000075 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0001090 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0001263 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0001290 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0001561 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0001684 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0002654 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0002751 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0004991 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0006385 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0010593 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0011327 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96190 Paternal uniparental disomy of chromosome 5 HP:0100753 ORPHA:96190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000482 ORPHA:231736 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000556 ORPHA:231736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000567 ORPHA:231736 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000568 ORPHA:231736 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000612 ORPHA:231736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0007968 ORPHA:231736 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0011502 ORPHA:231736 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0002310 ORPHA:494526 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0001260 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0001270 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0002072 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0002307 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0002317 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0002359 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0008936 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0011470 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0011968 ORPHA:494526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0001337 ORPHA:494526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0100248 ORPHA:494526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement HP:0012444 ORPHA:494526 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0000762 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0001288 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0001761 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002141 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002166 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002355 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002460 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002936 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003438 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003477 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003693 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0007010 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0007141 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0008959 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0009027 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0009046 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0009130 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0010830 ORPHA:435387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0000708 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0001260 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0001315 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0000712 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0001765 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002094 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002136 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002354 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002359 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0002938 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003236 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003376 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003394 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003401 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003551 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003691 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003701 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0003731 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0006389 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0006886 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0006944 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0007328 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0008994 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0008997 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0009053 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0030051 ORPHA:435387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63275 Pemphigoid gestationis HP:0000989 ORPHA:63275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63275 Pemphigoid gestationis HP:0001508 ORPHA:63275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63275 Pemphigoid gestationis HP:0001511 ORPHA:63275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63275 Pemphigoid gestationis HP:0001622 ORPHA:63275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63275 Pemphigoid gestationis HP:0008066 ORPHA:63275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63275 Pemphigoid gestationis HP:0200037 ORPHA:63275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0001347 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0002061 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0002064 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0002314 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003393 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003487 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0007020 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0001761 ORPHA:171617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003392 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003426 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003427 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0003457 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0009031 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0009053 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0100561 ORPHA:171617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0002166 ORPHA:171617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0006892 ORPHA:171617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0009027 ORPHA:171617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0100543 ORPHA:171617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0000020 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0000726 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0001250 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0002921 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0009049 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171617 Autosomal dominant spastic paraplegia type 38 HP:0012898 ORPHA:171617 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0031177 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0009053 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0008954 ORPHA:63273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0008959 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0009027 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0006389 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0012515 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002141 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0030319 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0003738 ORPHA:63273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002600 ORPHA:63273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002015 ORPHA:63273 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002747 ORPHA:63273 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0001626 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002540 ORPHA:63273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0003474 ORPHA:63273 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0009046 ORPHA:63273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0030200 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0002355 ORPHA:63273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0006135 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0008994 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement HP:0001638 ORPHA:63273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002307 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002359 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0006801 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0007141 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0010544 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0040010 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0004322 ORPHA:251347 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001251 ORPHA:251347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000298 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000514 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000657 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001260 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001272 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001290 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001310 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001315 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001320 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001332 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002066 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002072 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002080 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002198 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002310 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0003438 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0100953 ORPHA:251347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000617 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000640 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000641 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000750 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0000815 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001336 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001388 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0001761 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251347 Ataxia-telangiectasia-like disorder HP:0002075 ORPHA:251347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000160 ORPHA:989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000175 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000218 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000324 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000347 ORPHA:989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000431 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000506 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0000668 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001156 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001171 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001231 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001249 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001291 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001522 ORPHA:989 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0001543 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0002023 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0002167 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0005235 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0006101 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0006265 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0008872 ORPHA:989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0009776 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0009813 ORPHA:989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0009882 ORPHA:989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0010295 ORPHA:989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:989 Hypoglossia-hypodactyly syndrome HP:0010669 ORPHA:989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0002991 ORPHA:988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0004322 ORPHA:988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0005048 ORPHA:988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0005772 ORPHA:988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0006443 ORPHA:988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0009601 ORPHA:988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0005162 ORPHA:75249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0030718 ORPHA:75249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0030950 ORPHA:75249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0031295 ORPHA:75249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0031329 ORPHA:75249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0001639 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0001653 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0002094 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0002205 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0002240 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0005110 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0005115 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0005180 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0008897 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0012398 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0012764 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0100598 ORPHA:75249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0001279 ORPHA:75249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0001297 ORPHA:75249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75249 Familial isolated restrictive cardiomyopathy HP:0001907 ORPHA:75249 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0000268 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0000316 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0000629 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0000703 ORPHA:166277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0001376 ORPHA:166277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0001773 ORPHA:166277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0001863 ORPHA:166277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0002645 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0002756 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0003103 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0004322 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0009824 ORPHA:166277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0011120 ORPHA:166277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:981 Internal carotid absence HP:0002138 ORPHA:981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:981 Internal carotid absence HP:0002637 ORPHA:981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:981 Internal carotid absence HP:0004944 ORPHA:981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:981 Internal carotid absence HP:0002315 ORPHA:981 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:981 Internal carotid absence HP:0100702 ORPHA:981 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000826 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001252 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001270 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001773 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0008897 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0200055 ORPHA:96184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000750 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001249 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001382 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001511 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001513 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001518 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001622 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0001956 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0004322 ORPHA:96184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000028 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000160 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000175 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000193 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000218 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000293 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000322 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000347 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000403 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000445 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000463 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0002021 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0002650 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0003124 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0004904 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0005280 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0007010 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0011220 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0011968 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0030084 ORPHA:96184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000276 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000324 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000347 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000369 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000470 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000545 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0001263 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0001508 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0001511 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0001558 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0001795 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0002546 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0002751 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0002999 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0003070 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0003089 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0003468 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0011968 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0040188 ORPHA:96183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0000851 ORPHA:96183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96183 Maternal uniparental disomy of chromosome 9 HP:0007973 ORPHA:96183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001627 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0002092 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0002205 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0003115 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0003546 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0006532 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0012417 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0031983 ORPHA:980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0000961 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001510 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001631 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001635 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001636 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001640 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001643 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001649 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001655 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001660 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001671 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0001680 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0002089 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0002094 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0002105 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0002110 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0004749 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0005110 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0006704 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0010741 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0012020 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0012664 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0012764 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0025576 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0031246 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0031664 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0040045 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0100598 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:980 Absence of the pulmonary artery HP:0100749 ORPHA:980 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0000008 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0000022 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0000037 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0000062 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0000144 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0000271 ORPHA:983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0008633 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0008734 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0008736 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0010468 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:983 Testicular regression syndrome HP:0010469 ORPHA:983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55654 Hypotrichosis simplex HP:0045075 ORPHA:55654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55654 Hypotrichosis simplex HP:0000653 ORPHA:55654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55654 Hypotrichosis simplex HP:0001596 ORPHA:55654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55654 Hypotrichosis simplex HP:0002231 ORPHA:55654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55654 Hypotrichosis simplex HP:0002209 ORPHA:55654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55654 Hypotrichosis simplex HP:0008070 ORPHA:55654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000233 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000325 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000356 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000750 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001156 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001159 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001263 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001270 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001508 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001518 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001999 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002020 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002714 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0003162 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0004482 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0008872 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0011220 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0030084 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0100555 ORPHA:96182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000028 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000047 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000119 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000160 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000201 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000331 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000678 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000691 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000824 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000826 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000855 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000975 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001328 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001476 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001620 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001627 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002007 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002013 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002019 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002650 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002705 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002835 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002870 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0003199 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0003944 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0004209 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0004396 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0008846 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0010782 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0011094 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0012412 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0012523 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0100559 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0100633 ORPHA:96182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000085 ORPHA:96182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000110 ORPHA:96182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000347 ORPHA:96182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0001511 ORPHA:96182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0002750 ORPHA:96182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0008897 ORPHA:96182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000023 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000034 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000175 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000204 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000325 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000510 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000512 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000529 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0000964 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0001249 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0001511 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0001873 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0002119 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0002721 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0003100 ORPHA:96181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0005268 ORPHA:96181 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0002194 ORPHA:96181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0002805 ORPHA:96181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0008258 ORPHA:96181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0008665 ORPHA:96181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96181 Maternal uniparental disomy of chromosome 6 HP:0030088 ORPHA:96181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000510 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000662 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000707 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000716 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000750 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001123 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000580 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001249 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001251 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001310 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001877 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0001927 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0002014 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0002064 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0002495 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0002600 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0002630 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0003146 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0003236 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0003563 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0003707 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0003722 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0004322 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0004325 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0004395 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0004905 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0006785 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0008181 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0008897 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0010831 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0010875 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0011892 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0011900 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0100513 ORPHA:96180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000011 ORPHA:96180 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000407 ORPHA:96180 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000648 ORPHA:96180 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0000873 ORPHA:96180 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96180 Maternal uniparental disomy of chromosome 4 HP:0100651 ORPHA:96180 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001258 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001347 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002061 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002355 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0003487 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0009027 ORPHA:171629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000657 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001249 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001260 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001268 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001272 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001285 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001310 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002075 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002079 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002359 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0006895 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0007325 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0007366 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0007371 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0011096 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0011448 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0100543 ORPHA:171629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000020 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000298 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000467 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0001250 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002120 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002607 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002808 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0005656 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0006879 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0010677 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0002454 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0100515 ORPHA:171629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000602 ORPHA:171629 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171629 Autosomal recessive spastic paraplegia type 35 HP:0000648 ORPHA:171629 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0000164 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0000271 ORPHA:978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0000426 ORPHA:978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0000431 ORPHA:978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0000579 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0000958 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0000963 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0000995 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0001480 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0001596 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0001597 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0001770 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0001803 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0001839 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0002209 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0002213 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0002557 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0002561 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0003187 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0006101 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0006482 ORPHA:978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0100797 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0100798 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:978 ADULT syndrome HP:0200042 ORPHA:978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0000021 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0000079 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0000485 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0001250 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0001252 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0001397 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0001508 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0002242 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0002750 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0003198 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0003457 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0004322 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0004349 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0007440 ORPHA:977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0008207 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:977 Adrenomyodystrophy HP:0011344 ORPHA:977 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001511 ORPHA:96179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001560 ORPHA:96179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0008897 ORPHA:96179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000821 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001562 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0002643 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0003028 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0004639 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0005781 ORPHA:96179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000041 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000047 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000083 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000110 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000546 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0000824 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001177 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0008209 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001622 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001763 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0002089 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0002652 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0002721 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0004209 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0004880 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0005268 ORPHA:96179 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0008440 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0008689 ORPHA:96179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96179 Maternal uniparental disomy of chromosome 2 HP:0001263 ORPHA:96179 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0000238 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0000486 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0000518 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0000568 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0000965 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001057 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001156 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0005916 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001171 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001249 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001250 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001269 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001276 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001362 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001394 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001409 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001508 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001541 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001596 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001622 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001636 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001641 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001804 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001817 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001873 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001882 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0001883 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0002040 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0002084 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0002092 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0002132 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0002239 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0002353 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0002612 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0002814 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0002817 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0004050 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0004935 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0006101 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0006970 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0008065 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0008070 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0009882 ORPHA:974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0010624 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0010760 ORPHA:974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:974 Adams-Oliver syndrome HP:0100026 ORPHA:974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0005916 ORPHA:973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0001799 ORPHA:973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0009778 ORPHA:973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0009988 ORPHA:973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0010049 ORPHA:973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0012379 ORPHA:976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000083 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000093 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000787 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000822 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0001919 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0012622 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0100518 ORPHA:976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000010 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000016 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000019 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0000791 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0003774 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0005110 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0011848 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0012587 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0030157 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:976 Adenine phosphoribosyltransferase deficiency HP:0100520 ORPHA:976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0000846 ORPHA:75233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0001263 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0001399 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0001510 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0001541 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0001744 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0001903 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0001945 ORPHA:75233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0002017 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0002040 ORPHA:75233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0002240 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0002570 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0003270 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0004326 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0004333 ORPHA:75233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0004395 ORPHA:75233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75233 Wolman disease HP:0010512 ORPHA:75233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001263 ORPHA:96170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000028 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000054 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000135 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000218 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000343 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000347 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000365 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000369 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000384 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000400 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000403 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000486 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000490 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000545 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000582 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000678 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000684 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000692 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000750 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000789 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001195 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001249 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001250 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001290 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001374 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001508 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001510 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001642 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001650 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001660 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002015 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002019 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002020 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002059 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002205 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002562 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002650 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002719 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002751 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0004397 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0004467 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0005815 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0009765 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0011968 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0012802 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0030820 ORPHA:96170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000023 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000089 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000122 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000175 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000193 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000238 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000252 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000483 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000508 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000540 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000776 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0000960 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001274 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001305 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001511 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001558 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001562 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001622 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001623 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001629 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001631 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0001643 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002023 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002119 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002308 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002500 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0002828 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0003028 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0005401 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0005989 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0009101 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0012714 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96170 Emanuel syndrome HP:0012735 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000252 ORPHA:96176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0001510 ORPHA:96176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0001999 ORPHA:96176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0010864 ORPHA:96176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000047 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000048 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000054 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000062 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000316 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000400 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000431 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000463 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000832 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0002652 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0005280 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0005927 ORPHA:96176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000218 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000243 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000286 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000322 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000347 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000358 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000470 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000676 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000717 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000957 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0001000 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0001290 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0001596 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0002007 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0002023 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0002323 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0009601 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0011301 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0012211 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0030032 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0100779 ORPHA:96176 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000479 ORPHA:96176 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0001274 ORPHA:96176 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0003256 ORPHA:96176 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0005233 ORPHA:96176 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96176 Ring chromosome 13 syndrome HP:0009919 ORPHA:96176 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0002072 ORPHA:494541 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0010994 ORPHA:494541 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0031206 ORPHA:494541 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0000739 ORPHA:494541 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0002548 ORPHA:494541 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0000726 ORPHA:494541 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:494541 Childhood-onset benign chorea with striatal involvement HP:0002194 ORPHA:494541 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0000982 ORPHA:158668 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0001030 ORPHA:158668 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0008404 ORPHA:158668 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0000966 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0001508 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0002289 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0002355 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0008070 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0040181 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0040189 ORPHA:158668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0000164 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0000670 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0000989 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0001581 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0002028 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0004322 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0005218 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0006482 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0006532 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0007502 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0008066 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0012227 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0030809 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0100699 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0100806 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome HP:0100825 ORPHA:158668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000028 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000280 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000294 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000350 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000666 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001131 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0007957 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0008707 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0008729 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0011229 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0045075 ORPHA:495875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000047 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000343 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000369 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000463 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000478 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000486 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000505 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000557 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000664 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001007 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001097 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001305 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001320 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002136 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002172 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002342 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002465 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0005280 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0010864 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0011343 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0011344 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0011825 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0012110 ORPHA:495875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000064 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000107 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000252 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000347 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000455 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000470 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000527 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000609 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000718 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001321 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001350 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0001545 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002000 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0002020 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0006610 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0007018 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0025405 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0040171 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0000577 ORPHA:440727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0000618 ORPHA:440727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0000579 ORPHA:440727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0007663 ORPHA:440727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0007773 ORPHA:440727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0012795 ORPHA:440727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium HP:0012841 ORPHA:440727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000028 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000047 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000073 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000075 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000076 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000126 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000164 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000175 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000189 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000232 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000252 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000276 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000280 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000286 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000337 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000348 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000396 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000411 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000414 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000426 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000430 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000431 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000486 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000508 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000518 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000581 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000582 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000668 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000682 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000691 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000767 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000821 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0000958 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0001166 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0001249 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0001250 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0001252 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0001263 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0001611 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0001647 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0001671 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0002021 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0002119 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0002465 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0002650 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0002705 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0002808 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0002827 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0002948 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0003422 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0004322 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0005599 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0005692 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0007370 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0008064 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0008499 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0008872 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0009928 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0010719 ORPHA:96169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96169 Koolen-De Vries syndrome HP:0100025 ORPHA:96169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001256 ORPHA:96168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001263 ORPHA:96168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001510 ORPHA:96168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001513 ORPHA:96168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001999 ORPHA:96168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000252 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000316 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000337 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000426 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000448 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000455 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000494 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0003256 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000286 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000347 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000358 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000363 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000421 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0000855 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001397 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001642 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001763 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0002573 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0003645 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0008151 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0010945 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0011228 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0011565 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0100608 ORPHA:96168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001162 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001274 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0001830 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0003072 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0032152 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96168 Monosomy 13q34 HP:0040188 ORPHA:96168 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000028 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000046 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000050 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000077 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000164 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000175 ORPHA:96167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000190 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000204 ORPHA:96167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000212 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000316 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000347 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000356 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000365 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000369 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000389 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000463 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000464 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000478 ORPHA:96167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000504 ORPHA:96167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000766 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0000767 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001249 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001250 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001257 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001263 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001582 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001595 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001629 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001631 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001636 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001643 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001869 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0001999 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0002162 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0030680 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0002650 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0002714 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0004209 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0004378 ORPHA:96167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0004415 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0005280 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0006443 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0007598 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0012471 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0100490 ORPHA:96167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96167 Recombinant 8 syndrome HP:0100729 ORPHA:96167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002314 ORPHA:171612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0007020 ORPHA:171612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0001347 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002061 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002166 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0003487 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0007340 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0100561 ORPHA:171612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0000012 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002064 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002169 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002355 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0003394 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0007350 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0001761 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0012378 ORPHA:171612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0001250 ORPHA:171612 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0002921 ORPHA:171612 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0003457 ORPHA:171612 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171612 Autosomal dominant spastic paraplegia type 37 HP:0012898 ORPHA:171612 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0000078 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0000104 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0000160 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0000202 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0000238 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0000369 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0000476 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0000776 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0001305 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0001339 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0001360 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0001539 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0001543 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0001561 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0001762 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0001838 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0002023 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0002084 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0002247 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0002323 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0002414 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0002475 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0030680 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0002804 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0003307 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0003396 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0008465 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0008905 ORPHA:63259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0009939 ORPHA:63259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0010301 ORPHA:63259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63259 Iniencephaly HP:0012294 ORPHA:63259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0000407 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0000470 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0000824 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0003423 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0004322 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0008213 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0008245 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0010627 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0011748 ORPHA:231720 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0012287 ORPHA:231720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171607 X-linked spastic paraplegia type 34 HP:0001347 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171607 X-linked spastic paraplegia type 34 HP:0001348 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171607 X-linked spastic paraplegia type 34 HP:0002061 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171607 X-linked spastic paraplegia type 34 HP:0002166 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171607 X-linked spastic paraplegia type 34 HP:0002362 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171607 X-linked spastic paraplegia type 34 HP:0003487 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171607 X-linked spastic paraplegia type 34 HP:0011448 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171607 X-linked spastic paraplegia type 34 HP:0012514 ORPHA:171607 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000474 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000708 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000709 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000710 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000711 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000718 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000719 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000723 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000733 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000734 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000737 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000741 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000751 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0000757 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0001268 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0001288 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0001347 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002069 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002071 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002145 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002300 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002354 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002381 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002371 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002380 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002442 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002446 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002465 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002493 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0002500 ORPHA:275864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0006892 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0010522 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0010526 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0010529 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0011204 ORPHA:275864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0030212 ORPHA:275864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0030213 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0030223 ORPHA:275864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0012658 ORPHA:275864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275864 Behavioral variant of frontotemporal dementia HP:0012671 ORPHA:275864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0000218 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0003458 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0003722 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0003798 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0006466 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0009005 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0009027 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0009063 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0009077 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0012036 ORPHA:399103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0001533 ORPHA:399103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0002875 ORPHA:399103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0009073 ORPHA:399103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0012548 ORPHA:399103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0030319 ORPHA:399103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:399103 Distal nebulin myopathy HP:0001638 ORPHA:399103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63260 Craniorachischisis HP:0000776 ORPHA:63260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63260 Craniorachischisis HP:0001539 ORPHA:63260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63260 Craniorachischisis HP:0002023 ORPHA:63260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63260 Craniorachischisis HP:0002323 ORPHA:63260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63260 Craniorachischisis HP:0002475 ORPHA:63260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63260 Craniorachischisis HP:0005857 ORPHA:63260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63260 Craniorachischisis HP:0010301 ORPHA:63260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63260 Craniorachischisis HP:0010309 ORPHA:63260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63260 Craniorachischisis HP:0010497 ORPHA:63260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000023 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000252 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000331 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000341 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000407 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000446 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000496 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000711 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000737 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001250 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001257 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001276 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001371 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001508 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002079 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002187 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002650 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0003196 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0010845 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0011185 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0011471 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0011800 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0011968 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0025373 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0025405 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0100704 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0200134 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000518 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000668 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001182 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001272 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001290 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001382 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001385 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0001999 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002069 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002098 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002164 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0002750 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0005072 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0006070 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0006094 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0007514 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0012098 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0012448 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0012469 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0040126 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0100806 ORPHA:544503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0000252 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0000366 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0000407 ORPHA:999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0000483 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0000613 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0000639 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0001053 ORPHA:999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0001107 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0001252 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0001256 ORPHA:999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0001770 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0004209 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0004322 ORPHA:999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0005599 ORPHA:999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0007400 ORPHA:999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:999 Ermine phenotype HP:0007730 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:998 Albinism-deafness syndrome HP:0000407 ORPHA:998 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:998 Albinism-deafness syndrome HP:0001053 ORPHA:998 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:998 Albinism-deafness syndrome HP:0001100 ORPHA:998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:998 Albinism-deafness syndrome HP:0002167 ORPHA:998 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:998 Albinism-deafness syndrome HP:0007400 ORPHA:998 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:998 Albinism-deafness syndrome HP:0007443 ORPHA:998 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:998 Albinism-deafness syndrome HP:0007544 ORPHA:998 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0000952 ORPHA:75234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0000989 ORPHA:75234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0001394 ORPHA:75234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0001399 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0001744 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0002014 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0002017 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0002040 ORPHA:75234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0002155 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0002240 ORPHA:75234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0002634 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0003124 ORPHA:75234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75234 Cholesteryl ester storage disease HP:0010512 ORPHA:75234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0000750 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0001284 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0001290 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0003202 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0003324 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0003390 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0003557 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0006829 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0009830 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0010994 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0011343 ORPHA:238329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0000737 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0001308 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002093 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002098 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002151 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002375 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002376 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0002490 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0003542 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0004305 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0009025 ORPHA:238329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy HP:0008872 ORPHA:238329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0003462 ORPHA:401973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0003465 ORPHA:401973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000028 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000218 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000238 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000260 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000316 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000347 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000369 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000422 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000426 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000472 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000474 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000506 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000518 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000568 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000582 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000960 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0001161 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0001249 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0001250 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0001263 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0001290 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0001305 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0001508 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0001650 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0001845 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0002079 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0002509 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0002808 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0004322 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0004691 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0005590 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0006958 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0008064 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0009941 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0010055 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0010557 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0011800 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0012433 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0100807 ORPHA:401973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000175 ORPHA:401973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000718 ORPHA:401973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0000752 ORPHA:401973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401973 MEND syndrome HP:0001627 ORPHA:401973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000736 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000737 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000739 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000741 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000751 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001250 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001289 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001324 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001336 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001337 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0001350 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002066 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002067 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002073 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002283 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002312 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002401 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002446 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0012332 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002464 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002529 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0003487 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0005327 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0006943 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007009 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007017 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007158 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007183 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007256 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0010846 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0011099 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0012672 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0025152 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0100256 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0100785 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0100786 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000738 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000746 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002072 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0002922 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0007686 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0010542 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0100292 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0100661 ORPHA:282166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000504 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000605 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000639 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000712 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000716 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:282166 Inherited Creutzfeldt-Jakob disease HP:0000726 ORPHA:282166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0000988 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0001386 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0001701 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0001744 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0001945 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002027 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002202 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002240 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002716 ORPHA:85414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002829 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0002960 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0003565 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0005681 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0011227 ORPHA:85414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85414 Systemic-onset juvenile idiopathic arthritis HP:0012122 ORPHA:85414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0005227 ORPHA:261584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000160 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000215 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000218 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000276 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000303 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000316 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000343 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000348 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000455 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000494 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0001256 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0001891 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0002234 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0002584 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0004482 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0004783 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0007649 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0010522 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0011078 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0200040 ORPHA:261584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000347 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000470 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000954 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0001115 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0001290 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0002064 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0002162 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0003003 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0006536 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0007766 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0100245 ORPHA:261584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0000077 ORPHA:261584 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0002884 ORPHA:261584 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0100246 ORPHA:261584 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001260 ORPHA:508093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001332 ORPHA:508093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0031206 ORPHA:508093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001336 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001508 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0002015 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0002059 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0002072 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0002315 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0002530 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0008314 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0008347 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0011923 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0011968 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0012707 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0025312 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0032005 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0000639 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0000648 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001270 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001288 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0002451 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0007663 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0012179 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0100660 ORPHA:508093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0000649 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001251 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001252 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001257 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001272 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508093 MEPAN syndrome HP:0001324 ORPHA:508093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0003493 ORPHA:85410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0040313 ORPHA:85410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0000554 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0001382 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0001508 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0002960 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0003028 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0003565 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0005086 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0030356 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0030782 ORPHA:85410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0000572 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0000585 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0001370 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0007663 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0007833 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0008850 ORPHA:85410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0000501 ORPHA:85410 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85410 Oligoarticular juvenile idiopathic arthritis HP:0000518 ORPHA:85410 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000590 ORPHA:329336 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003546 ORPHA:329336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003690 ORPHA:329336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000218 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000365 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0001260 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0001488 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002015 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002522 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002747 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003202 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003326 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003551 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003738 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0011968 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0030196 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0030319 ORPHA:329336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000565 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000580 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0001638 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002076 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002141 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002361 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002406 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002549 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002650 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003133 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0003722 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0005150 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0002505 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0007141 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0007256 ORPHA:329336 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000098 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000179 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000219 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000256 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000267 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000337 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000343 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000365 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000455 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000486 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000494 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000609 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000729 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000766 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000768 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001256 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001520 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001548 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001641 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001642 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0001999 ORPHA:137634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0030680 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0005616 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0008058 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0011098 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0012741 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0030680 ORPHA:137634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000707 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000924 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001249 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001250 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001263 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002521 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0008947 ORPHA:356961 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000252 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000478 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000951 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001155 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001272 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001531 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001999 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002086 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002500 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002540 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002650 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002715 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002910 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0004322 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0008936 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0010864 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0011968 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0012345 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0012348 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0012363 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0012448 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0012469 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0025053 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0040288 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0045060 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0100704 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000407 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000474 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000486 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000577 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000826 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001010 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001285 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001363 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001511 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001627 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001762 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001840 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002059 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002079 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002673 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0003121 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0003186 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0007366 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0007704 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0011185 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0011314 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0012762 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0012803 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0200012 ORPHA:356961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0000938 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001305 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001382 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0001636 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002020 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002418 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002539 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0002925 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0005736 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0006956 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0008695 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0012210 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0025484 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0025517 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0030043 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:356961 SLC35A2-CDG HP:0100490 ORPHA:356961 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0001250 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0002354 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0002902 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0002922 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0011185 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0012756 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0020071 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0031885 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0100806 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0200149 ORPHA:163921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0000708 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0000709 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0000716 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0000739 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0001251 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0001289 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0001332 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0001336 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0011203 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0012332 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0025100 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0100022 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163921 Posttransplant acute limbic encephalitis HP:0100543 ORPHA:163921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0000316 ORPHA:3023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0000365 ORPHA:3023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0000413 ORPHA:3023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0000486 ORPHA:3023 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0004209 ORPHA:3023 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0007598 ORPHA:3023 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002127 ORPHA:275872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002145 ORPHA:275872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002366 ORPHA:275872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000708 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000716 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000738 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000741 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0001260 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0001300 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002015 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002071 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002073 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002171 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002186 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002273 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002314 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002385 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002442 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002460 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0003700 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0003701 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0007190 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0010549 ORPHA:275872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000605 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000734 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0001265 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0001283 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002283 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002300 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0002380 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0003487 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0008322 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0008619 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0030223 ORPHA:275872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275872 Frontotemporal dementia with motor neuron disease HP:0000508 ORPHA:275872 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000028 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000062 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000069 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000073 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000076 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000083 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000086 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000104 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000202 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000822 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0000921 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0001315 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0001387 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0001762 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0002023 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0002089 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0002139 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0002308 ORPHA:3027 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0030680 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0002607 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0002644 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0002650 ORPHA:3027 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0003199 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0005640 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0008479 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0008517 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0009800 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0011867 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3027 Caudal regression syndrome HP:0100710 ORPHA:3027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0009027 ORPHA:59135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0011916 ORPHA:59135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0000218 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0000467 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0001288 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0001430 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0002460 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0002650 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0003323 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0003326 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0003789 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0003803 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0004696 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0008180 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0008316 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0012507 ORPHA:59135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0001644 ORPHA:59135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0003458 ORPHA:59135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0008994 ORPHA:59135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59135 Laing early-onset distal myopathy HP:0003805 ORPHA:59135 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001999 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0011911 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0011800 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001363 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000248 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000262 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001760 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001155 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001166 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0030084 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0012385 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001440 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0009701 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003019 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001838 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001883 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002974 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003041 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0005892 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008368 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000062 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000811 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000055 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0040253 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0025486 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000032 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000047 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000054 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003154 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008163 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031074 ORPHA:95699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031213 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031216 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031187 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031215 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0030349 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031083 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000822 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000028 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000786 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008675 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000823 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000798 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000144 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001007 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000924 ORPHA:95699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003070 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001377 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002987 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0006487 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002980 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0011302 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001371 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001762 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000772 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003468 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000882 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002650 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000774 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003275 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0006439 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003049 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001519 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0005913 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002967 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0010049 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0006118 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002007 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000260 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000452 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000453 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000414 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003196 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0005280 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000160 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002705 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000377 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000369 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000402 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000405 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000238 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000079 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0010946 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000076 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000122 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002020 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002019 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001545 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0011403 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0002308 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0007466 ORPHA:95699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000750 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0010862 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0003826 ORPHA:95699 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000927 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0009738 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000363 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001376 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001156 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0032362 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0011969 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008232 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008214 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031100 ORPHA:95699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0008221 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0031065 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0000147 ORPHA:95699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000175 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000201 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000252 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000316 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000430 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001156 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001256 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001263 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0002263 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0011341 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0012745 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000171 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000232 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000365 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000385 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000414 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000426 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000506 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000568 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000639 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000664 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000677 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000957 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000996 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001252 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001508 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001511 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001562 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0001792 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0002000 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0003196 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0005487 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0006289 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0007957 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0009246 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0010752 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0010804 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0011078 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0011401 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0012370 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0030680 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0045074 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0100380 ORPHA:364577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001369 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001386 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001387 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001785 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0002829 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003019 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003565 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0005086 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0005186 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0100686 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0100769 ORPHA:85408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0000554 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001155 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001371 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001384 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001530 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001824 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001832 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001903 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0002716 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003043 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003319 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003326 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0003493 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0008843 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0010754 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0011134 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0011911 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0040313 ORPHA:85408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001094 ORPHA:85408 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001433 ORPHA:85408 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0001263 ORPHA:401986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0002119 ORPHA:401986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0007370 ORPHA:401986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0000079 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0000256 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0000722 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0001249 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0001250 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0001252 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0002007 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0002144 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0007018 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0007099 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0030746 ORPHA:401986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0000965 ORPHA:401986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0001363 ORPHA:401986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0007906 ORPHA:401986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401986 1p31p32 microdeletion syndrome HP:0011834 ORPHA:401986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0000194 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0000252 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0000272 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0000298 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0000508 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0000729 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0000742 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0000750 ORPHA:52503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0001249 ORPHA:52503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0001250 ORPHA:52503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0001251 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0001252 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0001263 ORPHA:52503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0001276 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0001332 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0002019 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0002072 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0000752 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0001582 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0002251 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0002305 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0002595 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0004322 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0004326 ORPHA:52503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0005692 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52503 X-linked creatine transporter deficiency HP:0012113 ORPHA:52503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0001216 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0002353 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0008947 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0011344 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0012450 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0200000 ORPHA:3010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0000028 ORPHA:3010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0001182 ORPHA:3010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0001250 ORPHA:3010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0002719 ORPHA:3010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0000194 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0000289 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0000316 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0000426 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0000473 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0000486 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0000685 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0000767 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0001792 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0002307 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0002705 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0003270 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3010 Qazi-Markouizos syndrome HP:0007477 ORPHA:3010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000293 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000687 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000750 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001249 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001250 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0010803 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0430028 ORPHA:513456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000168 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000280 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000347 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000463 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001252 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001508 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002069 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002121 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0005274 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0005280 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0005338 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0007800 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0008872 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0010800 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0011342 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0011344 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0025336 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0031936 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0410263 ORPHA:513456 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000175 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000252 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000403 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000486 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000540 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000545 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000646 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000729 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000733 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001302 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001321 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001344 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001385 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001629 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001761 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0001840 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002019 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002020 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002066 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002079 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002119 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002136 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002373 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0002779 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0005750 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0006808 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0006897 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0008762 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0010740 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0011471 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0011842 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0012020 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0012172 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0012683 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0025186 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0040115 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001250 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001257 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001332 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001336 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001338 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002015 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002020 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002119 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002120 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002650 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0007096 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0008936 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0011344 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0011451 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0011471 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0012110 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0030890 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0100704 ORPHA:500144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0000011 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0000648 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001274 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001561 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001605 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002376 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002490 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0002521 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0005484 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0011097 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0012796 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0030043 ORPHA:500144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0000298 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0000741 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0001260 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0001300 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002063 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002067 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002120 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002167 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002172 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002322 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002362 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002425 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002527 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0002987 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0004673 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0007034 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0007311 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0007975 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0011121 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306692 Cyanide-induced parkinsonism-dystonia HP:0012157 ORPHA:306692 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0000020 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0000750 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0001252 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0001263 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0001302 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0001315 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0002069 ORPHA:329329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0000316 ORPHA:329329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0000506 ORPHA:329329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0000565 ORPHA:329329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329329 Autosomal recessive frontotemporal pachygyria HP:0001250 ORPHA:329329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0000169 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0000189 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0000293 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0000405 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0000407 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0000593 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0000682 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0000684 ORPHA:3019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0000819 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0000962 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0001249 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0001250 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0001508 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0002230 ORPHA:3019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0002797 ORPHA:3019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0007703 ORPHA:3019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3019 Ramon syndrome HP:0100585 ORPHA:3019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001332 ORPHA:352596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001336 ORPHA:352596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002788 ORPHA:352596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0007256 ORPHA:352596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0000252 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001326 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002123 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002133 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002188 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002376 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0008935 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0011968 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0200134 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001263 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001269 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002071 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0001262 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002301 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0002506 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0025152 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0100275 ORPHA:352596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0000648 ORPHA:352596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000233 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000293 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000311 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000414 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000750 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001250 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001270 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002003 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002015 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002164 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002999 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0008936 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0010864 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0011822 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0200005 ORPHA:495818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000160 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000252 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000421 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000483 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000486 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000506 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000708 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001357 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001762 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002019 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002099 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002540 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002553 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0003065 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0005487 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0006471 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0010665 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000028 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000046 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000054 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000077 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000248 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000369 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000377 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000445 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000465 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000470 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000954 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001009 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001285 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0001643 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002188 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0002518 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0006443 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0006855 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0010720 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0011825 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0100633 ORPHA:495818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163934 Atopic keratoconjunctivitis HP:0000491 ORPHA:163934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163934 Atopic keratoconjunctivitis HP:0000958 ORPHA:163934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163934 Atopic keratoconjunctivitis HP:0001097 ORPHA:163934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163934 Atopic keratoconjunctivitis HP:0007957 ORPHA:163934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163934 Atopic keratoconjunctivitis HP:0000492 ORPHA:163934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163934 Atopic keratoconjunctivitis HP:0000498 ORPHA:163934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163934 Atopic keratoconjunctivitis HP:0011457 ORPHA:163934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163934 Atopic keratoconjunctivitis HP:0011496 ORPHA:163934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163934 Atopic keratoconjunctivitis HP:0012375 ORPHA:163934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0000510 ORPHA:3011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0001141 ORPHA:3011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0002187 ORPHA:3011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0002376 ORPHA:3011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0008610 ORPHA:3011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0000003 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0000104 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0000110 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0000278 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0000347 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0000444 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0000470 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0000772 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0001156 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0002094 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0002098 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0002202 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0002705 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0002714 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0002878 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0002983 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0002984 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0003312 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0003510 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0004279 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0005280 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0008678 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0009811 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3015 Radio-renal syndrome HP:0010310 ORPHA:3015 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0000238 ORPHA:3016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0001562 ORPHA:3016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0002984 ORPHA:3016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0012165 ORPHA:3016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0100257 ORPHA:3016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0000143 ORPHA:3016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0002023 ORPHA:3016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0004871 ORPHA:3016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3016 Absent radius-anogenital anomalies syndrome HP:0025023 ORPHA:3016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000316 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001250 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001263 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0003155 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0006118 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0008947 ORPHA:247262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000431 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000637 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001249 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001510 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001999 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002069 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002714 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0010804 ORPHA:247262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000126 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000193 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000218 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000248 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000280 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000286 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000289 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000303 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000311 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000322 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000347 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000378 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000391 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000414 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000426 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000470 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000540 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000565 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000582 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000594 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000657 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000729 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0000767 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001009 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001195 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001251 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001288 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001315 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001336 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001357 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001385 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001545 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001562 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0001792 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002251 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002342 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002392 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002553 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002558 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002650 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0002696 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0006808 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0010850 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0010864 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0011471 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0030084 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0040194 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome HP:0040195 ORPHA:247262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0000712 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0001276 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0001288 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0001332 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0002067 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0002071 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0002172 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0002174 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0002315 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0002354 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0002396 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0002453 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0003287 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0006979 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0025464 ORPHA:306682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0000505 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0000718 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0000722 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0000746 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0000748 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0000802 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0001289 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0002304 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0030018 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0040306 ORPHA:306682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0000716 ORPHA:306682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0000737 ORPHA:306682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0000738 ORPHA:306682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0030214 ORPHA:306682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306682 Manganese poisoning HP:0031466 ORPHA:306682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0000708 ORPHA:306686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0002354 ORPHA:306686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0002518 ORPHA:306686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0012706 ORPHA:306686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0012708 ORPHA:306686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0002063 ORPHA:306686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0002067 ORPHA:306686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0002817 ORPHA:306686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning HP:0004673 ORPHA:306686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002151 ORPHA:3008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0003128 ORPHA:3008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0032653 ORPHA:3008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001250 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001508 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001510 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001942 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001987 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002161 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002490 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0003348 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0003542 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0003648 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0008358 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0011966 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0012644 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0012706 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0012707 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0012708 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0012758 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0500149 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0410175 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0500147 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0500181 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0500198 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0500200 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0500231 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0500233 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0500246 ORPHA:3008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0000639 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0000722 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0000741 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0000817 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001249 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001251 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001252 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001262 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001274 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001290 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001332 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001337 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001943 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001944 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002013 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002039 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002119 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002240 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002416 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002465 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002789 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0002793 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0003074 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0003228 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0003265 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0003429 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0006999 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0007109 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0007256 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0011169 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0012448 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0012469 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0012698 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0012762 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0025160 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0025336 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0030051 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0030890 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0100660 ORPHA:3008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0001259 ORPHA:3008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3008 Pyruvate carboxylase deficiency HP:0100023 ORPHA:3008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000590 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0001488 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0002015 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003325 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003390 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003797 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0007340 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0008615 ORPHA:329314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000486 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000518 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000648 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000716 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000726 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0001251 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0001618 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003326 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003394 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003558 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0003749 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0025406 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0100543 ORPHA:329314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0000040 ORPHA:3000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0000053 ORPHA:3000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0000098 ORPHA:3000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0000708 ORPHA:3000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0000798 ORPHA:3000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0000826 ORPHA:3000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0001061 ORPHA:3000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0001595 ORPHA:3000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0003251 ORPHA:3000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0005616 ORPHA:3000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3000 Familial male-limited precocious puberty HP:0007018 ORPHA:3000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3002 Immune thrombocytopenia HP:0001873 ORPHA:3002 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3002 Immune thrombocytopenia HP:0001907 ORPHA:3002 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3002 Immune thrombocytopenia HP:0000967 ORPHA:3002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3002 Immune thrombocytopenia HP:0000979 ORPHA:3002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3002 Immune thrombocytopenia HP:0004420 ORPHA:3002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3002 Immune thrombocytopenia HP:0000225 ORPHA:3002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3002 Immune thrombocytopenia HP:0000421 ORPHA:3002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3002 Immune thrombocytopenia HP:0000978 ORPHA:3002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3002 Immune thrombocytopenia HP:0002239 ORPHA:3002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3002 Immune thrombocytopenia HP:0001342 ORPHA:3002 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0000369 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0000457 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0000465 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0000773 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0000888 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0002694 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0002983 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0003026 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0003175 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0003270 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0004493 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0008817 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0010306 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0011338 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0011867 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0012790 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0030290 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0040194 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0100540 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0100625 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0100748 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0100856 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3003 Pyknoachondrogenesis HP:0100866 ORPHA:3003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0001171 ORPHA:3004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0001829 ORPHA:3004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0002247 ORPHA:3004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0003422 ORPHA:3004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0004322 ORPHA:3004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0005359 ORPHA:3004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0009829 ORPHA:3004 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0003128 ORPHA:3006 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0001250 ORPHA:3006 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0000737 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0001557 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002079 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002133 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002643 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0007359 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0010845 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0010851 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011152 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011968 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0012758 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0020217 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0025116 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0030917 ORPHA:3006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0000273 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0000496 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0000711 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0001249 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002119 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002188 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002280 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0002521 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0010819 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0010841 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011097 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011166 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011198 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0011199 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0012420 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0012444 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0012704 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0012768 ORPHA:3006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3006 Pyridoxine-dependent epilepsy HP:0001943 ORPHA:3006 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000738 ORPHA:513436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0007153 ORPHA:513436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0003202 ORPHA:513436 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000486 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0001260 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0001272 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0001347 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002073 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002120 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002355 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0003477 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0003482 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0003487 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0007020 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0007240 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0100543 ORPHA:513436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000011 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000605 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000666 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0001332 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002079 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002478 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0002518 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0003390 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0007256 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0001761 ORPHA:513436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000317 ORPHA:513436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:513436 Autosomal recessive spastic paraplegia type 78 HP:0000726 ORPHA:513436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000003 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000075 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000076 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000125 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000126 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000212 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000316 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000478 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000480 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000482 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000483 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000486 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000505 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000508 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000518 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000539 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000545 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000568 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000612 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000615 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000648 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000678 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000684 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000692 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000767 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000768 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000932 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001089 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001159 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001166 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001181 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001347 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001371 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001492 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001636 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001641 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001642 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001647 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001650 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001680 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001746 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001763 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001822 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001847 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001848 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002007 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002019 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002021 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002540 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002572 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002650 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002719 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002750 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002857 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0003763 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0004313 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0004414 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0006482 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007048 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007328 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0009487 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0009918 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0010055 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0010511 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0011451 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0012385 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0012430 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0030791 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0040331 ORPHA:261552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000034 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000041 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000048 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000054 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000175 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000193 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000286 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000407 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001153 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001320 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001321 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001629 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001643 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002015 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002126 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002335 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002465 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002553 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002777 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0004961 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0005580 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007099 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007165 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001249 ORPHA:261552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001344 ORPHA:261552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001999 ORPHA:261552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002474 ORPHA:261552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0040082 ORPHA:261552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000020 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000028 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000047 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000119 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000179 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000194 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000303 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000307 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000322 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000358 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000403 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000431 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000437 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000444 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000490 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000506 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000707 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000733 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001250 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001257 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001273 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001274 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001508 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0001627 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002079 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002136 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002251 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002353 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002360 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0002607 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0004322 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0005484 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0006956 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007010 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007270 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0007359 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0008947 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0009765 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0009909 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0011229 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0025100 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0030303 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0031936 ORPHA:261552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0011120 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0011317 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0011886 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0012081 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0030264 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0410005 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0410031 ORPHA:261552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0004910 ORPHA:47159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0004918 ORPHA:47159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0001508 ORPHA:47159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0001510 ORPHA:47159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0002013 ORPHA:47159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0002900 ORPHA:47159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0003646 ORPHA:47159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0000478 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0000501 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0000518 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0000585 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0000787 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0000924 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0001249 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0001530 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0001944 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0001959 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0002014 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0002024 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0002150 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0003076 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0003109 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0003126 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0003149 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0003355 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0004349 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0006285 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0011106 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0012573 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0012605 ORPHA:47159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0000121 ORPHA:47159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0000589 ORPHA:47159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0001682 ORPHA:47159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:47159 Proximal renal tubular acidosis HP:0004322 ORPHA:47159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000023 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000154 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000248 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000252 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000272 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000280 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000286 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000307 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000325 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000343 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000348 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000431 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000448 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000486 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000574 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001156 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001256 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001511 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001537 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001631 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001633 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001800 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001802 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001804 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001817 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0001857 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0002007 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0002086 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0002230 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0002750 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0004209 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0004322 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0004422 ORPHA:1292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0008398 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0009773 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0009890 ORPHA:1292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0100797 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0100798 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007020 ORPHA:329308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002478 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002493 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007153 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007325 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007240 ORPHA:329308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0001260 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002015 ORPHA:329308 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000648 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007924 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0001123 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0030584 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000486 ORPHA:329308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000666 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000605 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007359 ORPHA:329308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0001272 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0006855 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0006827 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002079 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0001268 ORPHA:329308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002505 ORPHA:329308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002527 ORPHA:329308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007199 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002505 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002425 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002427 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0009830 ORPHA:329308 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0002069 ORPHA:329308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000739 ORPHA:329308 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0000716 ORPHA:329308 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329308 Fatty acid hydroxylase-associated neurodegeneration HP:0007302 ORPHA:329308 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000514 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000605 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000726 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001300 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0002063 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0002395 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0003487 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0007256 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0007350 ORPHA:306674 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000020 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000183 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000338 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000736 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001167 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001254 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001289 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001336 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0002120 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0002355 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0002367 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0002425 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0008969 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0010553 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0011446 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0012378 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0100660 ORPHA:306674 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000511 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000639 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000643 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000658 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0000741 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001260 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001268 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001276 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001288 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001760 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0001945 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0002015 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0002067 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0002493 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0002607 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0003324 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0007083 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0025403 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306674 Kufor-Rakeb syndrome HP:0031008 ORPHA:306674 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000951 ORPHA:35173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0010655 ORPHA:35173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000324 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000518 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000929 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001019 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002007 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0004322 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0004468 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0005280 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0006619 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0008064 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0025474 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0040189 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0100559 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0100560 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0100569 ORPHA:35173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000218 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000316 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000369 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000482 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000494 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000568 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000653 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001197 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001371 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001597 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001762 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0001998 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002088 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002208 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002232 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002751 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002827 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0002999 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0004552 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0005756 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0008434 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0008443 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0008850 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0010720 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0045075 ORPHA:35173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000126 ORPHA:35173 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000377 ORPHA:35173 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0000407 ORPHA:35173 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35173 X-linked dominant chondrodysplasia punctata HP:0100702 ORPHA:35173 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000193 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000248 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000252 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000303 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000307 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000316 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000327 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000348 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000455 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000470 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000486 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000506 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000520 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000607 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000664 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000670 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000767 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000808 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0002342 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0002553 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0002679 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0002684 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0002714 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0005280 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0008516 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0009748 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0009907 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0010299 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0010724 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0010749 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0011072 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0012368 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0100334 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000309 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000233 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000322 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000410 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000494 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0001363 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0003319 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0003423 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0006480 ORPHA:1299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000071 ORPHA:1299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000625 ORPHA:1299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0001250 ORPHA:1299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000042 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0001537 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0001545 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0002561 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0002836 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0009814 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0009818 ORPHA:1299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000054 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000164 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000176 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000003 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000104 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000126 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000202 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000218 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000232 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000268 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000368 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000377 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000405 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000431 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000455 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000482 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000486 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000508 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000518 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000579 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000582 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000589 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000612 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000691 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0000987 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0001028 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0001177 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0001511 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0001611 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0002002 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0002167 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0002216 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0004322 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0004464 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0004467 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0008606 ORPHA:1297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0009804 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0100268 ORPHA:1297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0100335 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1297 Branchio-oculo-facial syndrome HP:0100798 ORPHA:1297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0001513 ORPHA:179494 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0003292 ORPHA:179494 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000771 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000786 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000815 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000842 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0002591 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0005407 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0005419 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0008187 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0008214 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0040171 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0008724 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0008734 ORPHA:179494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000712 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0000831 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0002155 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0002788 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0004926 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0005616 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:179494 Obesity due to leptin receptor gene deficiency HP:0008245 ORPHA:179494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0000023 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0000047 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0000154 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0000272 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0000384 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0000952 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0001249 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0001252 ORPHA:1296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0001396 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0001511 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0001531 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0001629 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0004313 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0005248 ORPHA:1296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0007360 ORPHA:1296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1296 Lambert syndrome HP:0009794 ORPHA:1296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0000971 ORPHA:247257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0001945 ORPHA:247257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0011159 ORPHA:247257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0012378 ORPHA:247257 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0001289 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0002013 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0002094 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0002098 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0002546 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0002615 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0011029 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247257 Inhalational anthrax HP:0100806 ORPHA:247257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000044 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000048 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000219 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000316 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000337 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000458 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000506 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000664 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0001053 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0001156 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0005916 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0001387 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0002857 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0003196 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0005288 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0008736 ORPHA:1295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0009882 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0010624 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0010669 ORPHA:1295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001284 ORPHA:98771 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001324 ORPHA:98771 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0002066 ORPHA:98771 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0003474 ORPHA:98771 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0000365 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001260 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001310 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001761 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0002395 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0002600 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0007141 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0010546 ORPHA:98771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0000639 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0001272 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0002346 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0003202 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0003477 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98771 Spinocerebellar ataxia type 18 HP:0030187 ORPHA:98771 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001251 ORPHA:98772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002355 ORPHA:98772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0000020 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001265 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001272 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001347 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002070 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002078 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002172 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0006938 ORPHA:98772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0000602 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0000639 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0000651 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001260 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0001350 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002136 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002370 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0002396 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98772 Spinocerebellar ataxia type 19/22 HP:0007772 ORPHA:98772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0002066 ORPHA:98773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0002071 ORPHA:98773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0002073 ORPHA:98773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0007944 ORPHA:98773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0000639 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0000708 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0001249 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0001260 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0001337 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0002063 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0002304 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0006855 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0010526 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0100543 ORPHA:98773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98773 Spinocerebellar ataxia type 21 HP:0000651 ORPHA:98773 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86788 X-linked severe congenital neutropenia HP:0001875 ORPHA:86788 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86788 X-linked severe congenital neutropenia HP:0002718 ORPHA:86788 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86788 X-linked severe congenital neutropenia HP:0012312 ORPHA:86788 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0010904 ORPHA:51208 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0012335 ORPHA:51208 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0012379 ORPHA:51208 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0032164 ORPHA:51208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0500170 ORPHA:51208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0000750 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0001889 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0001903 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0010864 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0011342 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0012758 ORPHA:51208 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0000717 ORPHA:51208 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51208 Formiminoglutamic aciduria HP:0001631 ORPHA:51208 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0008245 ORPHA:226307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0031098 ORPHA:226307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0031219 ORPHA:226307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000158 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000270 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000282 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000871 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001254 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001265 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001510 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001537 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001662 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0002019 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0002045 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0004491 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0005930 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0005990 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0006579 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0008202 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0008828 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0008872 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0010627 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0012378 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0012758 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0031507 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0040075 ORPHA:226307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000044 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000407 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000470 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000609 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000824 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0000839 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001161 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001252 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001274 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001317 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001943 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0001999 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0002920 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0004637 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0005280 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0009381 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0011220 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0011755 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0011800 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0025502 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0030341 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0030344 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0031218 ORPHA:226307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0025483 ORPHA:226307 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000238 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000369 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000567 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001249 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001250 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001263 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001320 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002119 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002363 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002538 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002876 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0005949 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0008947 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0011968 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0040288 ORPHA:163961 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000278 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000316 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000347 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0000358 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001284 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0001305 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002007 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002015 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002033 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002245 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0002335 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0003196 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0005815 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0007738 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0007965 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome HP:0009928 ORPHA:163961 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001649 ORPHA:137675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0004755 ORPHA:137675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0004756 ORPHA:137675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0000961 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0000980 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001508 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001635 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001640 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001678 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001716 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001945 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0002013 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0002240 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0002329 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0002401 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0002789 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0003546 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0011712 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0011716 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0012735 ORPHA:137675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0000107 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0000147 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0000175 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0000238 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0000485 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0000568 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0000648 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001250 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001254 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001274 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001629 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001907 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0001943 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0002301 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0002438 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0003128 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0004749 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0005110 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0005165 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0005950 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0007185 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0007707 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0007957 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137675 Histiocytoid cardiomyopathy HP:0100598 ORPHA:137675 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000154 ORPHA:163966 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000238 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000322 ORPHA:163966 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000347 ORPHA:163966 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000369 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000457 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000568 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000883 ORPHA:163966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000926 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000962 ORPHA:163966 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0001256 ORPHA:163966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0001321 ORPHA:163966 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0001511 ORPHA:163966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0001522 ORPHA:163966 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0001773 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0002007 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0002866 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0003196 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0004279 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0004322 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0005871 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0006028 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0008364 ORPHA:163966 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0008905 ORPHA:163966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0001251 ORPHA:247245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0008619 ORPHA:247245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0009591 ORPHA:247245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0001272 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0001273 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0001892 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0007240 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0007340 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0011029 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0100543 ORPHA:247245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0000009 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0000458 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0000726 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0001260 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0001310 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0001350 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0001934 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002013 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002018 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002070 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002075 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002138 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002143 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002315 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002317 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002321 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002334 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002354 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002359 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002921 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0002922 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0003401 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0003418 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0003487 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0003698 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0006827 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0007256 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0007328 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0007366 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0009916 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0010633 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0010829 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0032398 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0100006 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0100026 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0100952 ORPHA:247245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0001250 ORPHA:247245 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0030321 ORPHA:247245 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247245 Superficial siderosis HP:0045052 ORPHA:247245 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0000666 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0001260 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0002015 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0002073 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0002141 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0002355 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0008003 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0010544 ORPHA:98767 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0001332 ORPHA:98767 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0007256 ORPHA:98767 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98767 Spinocerebellar ataxia type 11 HP:0009830 ORPHA:98767 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000639 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001256 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001260 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001263 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001270 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001272 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001290 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001347 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002066 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002070 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002355 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0006886 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0009046 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0010794 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0030187 ORPHA:98768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000012 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000020 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000365 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000473 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000543 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0000648 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001336 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002015 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002172 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002312 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0006801 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0008003 ORPHA:98768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001250 ORPHA:98768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0001999 ORPHA:98768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0002067 ORPHA:98768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0004322 ORPHA:98768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98768 Spinocerebellar ataxia type 13 HP:0025331 ORPHA:98768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0001251 ORPHA:98769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0001272 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0001347 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0002066 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0002345 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0002346 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0007351 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98769 Spinocerebellar ataxia type 15/16 HP:0030188 ORPHA:98769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0002066 ORPHA:98763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0001290 ORPHA:98763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0002070 ORPHA:98763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0002073 ORPHA:98763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0005109 ORPHA:98763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0006855 ORPHA:98763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0000640 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0001152 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0001260 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0001336 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0001337 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0002063 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0002600 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0003474 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98763 Spinocerebellar ataxia type 14 HP:0100543 ORPHA:98763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0000640 ORPHA:98764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001260 ORPHA:98764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001337 ORPHA:98764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0000718 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001288 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001761 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002066 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002070 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002078 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002354 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002355 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0003390 ORPHA:98764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0000486 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0000642 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0000716 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001256 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0001272 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002378 ORPHA:98764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0002304 ORPHA:98764 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98764 Spinocerebellar ataxia type 27 HP:0010526 ORPHA:98764 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0002495 ORPHA:98765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0003438 ORPHA:98765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0010830 ORPHA:98765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0010831 ORPHA:98765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0001251 ORPHA:98765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0001260 ORPHA:98765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0001288 ORPHA:98765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0002333 ORPHA:98765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0001284 ORPHA:98765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0003390 ORPHA:98765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0007002 ORPHA:98765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98765 Spinocerebellar ataxia type 4 HP:0009830 ORPHA:98765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98766 Spinocerebellar ataxia type 5 HP:0001272 ORPHA:98766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98766 Spinocerebellar ataxia type 5 HP:0001288 ORPHA:98766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98766 Spinocerebellar ataxia type 5 HP:0001350 ORPHA:98766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98766 Spinocerebellar ataxia type 5 HP:0002311 ORPHA:98766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0000639 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0000802 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0001251 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0001257 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0001272 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0001332 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0001347 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002063 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002066 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002067 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002070 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002172 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002317 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002464 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0006855 ORPHA:98760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0000020 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0000273 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0000716 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002015 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002495 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0002835 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0007772 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98760 Spinocerebellar ataxia type 8 HP:0012110 ORPHA:98760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000179 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000194 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000303 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000307 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000322 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000358 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000403 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000431 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001822 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001847 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001848 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002019 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002021 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002540 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002572 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002650 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002719 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002750 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002857 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0003763 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0004313 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0004414 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0006482 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007048 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007328 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0009487 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0010055 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0010511 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0011451 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0012385 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0012430 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0040331 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000034 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000041 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000048 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000054 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000175 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000193 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000407 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001153 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001320 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001321 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002015 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002126 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002335 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002465 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002777 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0004961 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007099 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007165 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0011317 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0012081 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0030264 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0410005 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0410031 ORPHA:261537 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000437 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000444 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000490 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000506 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000707 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000733 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001250 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001257 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001273 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001274 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001508 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001627 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002079 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002136 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002251 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002353 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002360 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002607 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0004322 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0005484 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0006956 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007010 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007270 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0007359 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0008947 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0009765 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0009909 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0011229 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0025100 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0031936 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000003 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000075 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000076 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000125 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000126 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000212 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000316 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000478 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000480 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000483 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000486 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000508 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000518 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000545 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000568 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000612 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000678 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000684 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000692 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000767 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000768 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000932 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001159 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001166 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001181 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001371 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001492 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001636 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001641 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001642 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001647 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001650 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001680 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001746 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001763 ORPHA:261537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001249 ORPHA:261537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001344 ORPHA:261537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0001999 ORPHA:261537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0002474 ORPHA:261537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0040082 ORPHA:261537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000020 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000028 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000047 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0000119 ORPHA:261537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000026 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000054 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000062 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000286 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000303 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000316 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000347 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000368 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000431 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000708 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000729 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000744 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000750 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0001263 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000771 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000774 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0003241 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0000837 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0002750 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0001249 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0001776 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0001999 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0002119 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0002500 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0002788 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0003782 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0008193 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0008734 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0010506 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0011220 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0011343 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0040019 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0040171 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261534 49,XXXYY syndrome HP:0045058 ORPHA:261534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001260 ORPHA:98761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002066 ORPHA:98761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002073 ORPHA:98761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000639 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000640 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001272 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001310 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002075 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002080 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002141 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002168 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002197 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002317 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0007772 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0011198 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0030186 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0100660 ORPHA:98761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000012 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000716 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000718 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0000741 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001265 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001290 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0001347 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002061 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002133 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002360 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0002384 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0003487 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98761 Spinocerebellar ataxia type 10 HP:0011153 ORPHA:98761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001251 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001272 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001300 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001317 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001347 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002059 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002345 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002406 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0030188 ORPHA:98762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0000708 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0000726 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0001288 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002067 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002080 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002174 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002317 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0002375 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0007010 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0007141 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0007256 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98762 Spinocerebellar ataxia type 12 HP:0100543 ORPHA:98762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0001369 ORPHA:85446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0030833 ORPHA:85446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0030834 ORPHA:85446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0000762 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0001227 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0003401 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0003447 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0007078 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0012062 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0012185 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0012531 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0012534 ORPHA:85446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0000158 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0002015 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0002239 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0002242 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0003040 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0005106 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0005108 ORPHA:85446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0001635 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0002273 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0002445 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0003043 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0004389 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0011675 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85446 Wild type ABeta2M amyloidosis HP:0100261 ORPHA:85446 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001249 ORPHA:1272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001263 ORPHA:1272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0008897 ORPHA:1272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0012368 ORPHA:1272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000028 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000160 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000175 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000219 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000238 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000239 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000248 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000316 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000343 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000348 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000358 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000369 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000407 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000494 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000505 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000518 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000519 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000582 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000586 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000677 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001182 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001250 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001357 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001376 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001488 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001838 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0002119 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0002120 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0002209 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0002353 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0003196 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0004209 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0004322 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0005280 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0005487 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0007099 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0008551 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0008947 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0011333 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0012385 ORPHA:1272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000023 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000093 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000270 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000402 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000485 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000501 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000527 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000765 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0000776 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001363 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001643 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001698 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0001701 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0002079 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0002373 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0002650 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0002680 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0002974 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0003187 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0005815 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0012770 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1272 Aymé-Gripp syndrome HP:0030680 ORPHA:1272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0000112 ORPHA:85447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0001271 ORPHA:85447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0000802 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0001638 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0001640 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0001678 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0001824 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0002014 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0002019 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0012332 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0011675 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0012185 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0012211 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85447 ATTRV30M amyloidosis HP:0100832 ORPHA:85447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0000028 ORPHA:1270 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0000202 ORPHA:1270 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0000252 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0000340 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0000347 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0000448 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0001250 ORPHA:1270 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0001387 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0001522 ORPHA:1270 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0001838 ORPHA:1270 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0002101 ORPHA:1270 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0002119 ORPHA:1270 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0030680 ORPHA:1270 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0004209 ORPHA:1270 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0004322 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0008846 ORPHA:1270 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0008850 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0008872 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0011344 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1270 Bowen-Conradi syndrome HP:0100490 ORPHA:1270 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0011025 ORPHA:289601 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0003207 ORPHA:289601 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0025015 ORPHA:289601 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0025324 ORPHA:289601 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0012101 ORPHA:289601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0001717 ORPHA:289601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289601 Hereditary arterial and articular multiple calcification syndrome HP:0005116 ORPHA:289601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000478 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000958 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0001005 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0001097 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0001149 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0001488 ORPHA:85448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000217 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000365 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000505 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000518 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000707 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000969 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000973 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000978 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0001251 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0001271 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0002411 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0007067 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0010628 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0011356 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0011675 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0012185 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0012804 ORPHA:85448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000093 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000501 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000989 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0008070 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0001260 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0001638 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0004926 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0007488 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0010535 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0010749 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0012473 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0025408 ORPHA:85448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0000716 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0002483 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0002549 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0003774 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0008404 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85448 AGel amyloidosis HP:0011947 ORPHA:85448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0012378 ORPHA:85443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0000077 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0000093 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0000100 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0001627 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0001639 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0001824 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0003115 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0006530 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0010702 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0012592 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0031185 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0031326 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0032613 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0410173 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0410174 ORPHA:85443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0000083 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0000217 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0000978 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0001392 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0001713 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0001903 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0002094 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0002240 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0012332 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0002870 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0003073 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0003155 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0003270 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0005120 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0005307 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0008321 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0008652 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0009830 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0010286 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0011675 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0012185 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0012398 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0025389 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0030164 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0031246 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0031595 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0032550 ORPHA:85443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0000158 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0001609 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0002015 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0002239 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0002578 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0011024 ORPHA:85443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85443 AL amyloidosis HP:0012664 ORPHA:85443 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0004395 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0004936 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0011830 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0012622 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0001919 ORPHA:85445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0000821 ORPHA:85445 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0000846 ORPHA:85445 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0001627 ORPHA:85445 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0000077 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0000093 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0000112 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0001917 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0002615 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0011034 ORPHA:85445 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0000100 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0000105 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0001396 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0002013 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0002018 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0002024 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0002027 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0002028 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85445 AA amyloidosis HP:0002240 ORPHA:85445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000093 ORPHA:85450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000112 ORPHA:85450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0032613 ORPHA:85450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000083 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000822 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001970 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0003259 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0011024 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0012213 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0012591 ORPHA:85450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000017 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000092 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000100 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000967 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000979 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001410 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001433 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001635 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001824 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0001903 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002013 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002014 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002018 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002020 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002027 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002239 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002240 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002716 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0002733 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0003198 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0003233 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0003565 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0005214 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0005576 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0009830 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0031368 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0031799 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0410281 ORPHA:85450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000035 ORPHA:85450 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000135 ORPHA:85450 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0000798 ORPHA:85450 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0003251 ORPHA:85450 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85450 Hereditary amyloidosis with primary renal involvement HP:0008720 ORPHA:85450 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0000174 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0000347 ORPHA:1278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0000431 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0000574 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0000664 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0001156 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0001177 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0001231 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0002007 ORPHA:1278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0004059 ORPHA:1278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0010049 ORPHA:1278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0010743 ORPHA:1278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome HP:0011304 ORPHA:1278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000026 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000028 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000047 ORPHA:163971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000252 ORPHA:163971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000336 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000400 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000426 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000490 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000709 ORPHA:163971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000815 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000837 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0002750 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0004209 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0001256 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0001508 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0004322 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0001792 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0001999 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0008187 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0008734 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0004440 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0011999 ORPHA:163971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0040171 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0100962 ORPHA:163971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0200055 ORPHA:163971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0000853 ORPHA:226316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0002925 ORPHA:226316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0008263 ORPHA:226316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0025484 ORPHA:226316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0031507 ORPHA:226316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0000158 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0001070 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0001254 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0001537 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0001615 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0002019 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0006579 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0011968 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0031169 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0031221 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0100786 ORPHA:226316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0000969 ORPHA:226316 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0001252 ORPHA:226316 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0002045 ORPHA:226316 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:226316 Genetic transient congenital hypothyroidism HP:0005990 ORPHA:226316 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001692 ORPHA:85451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0003115 ORPHA:85451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0030843 ORPHA:85451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0031185 ORPHA:85451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0410174 ORPHA:85451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001639 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001640 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001723 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0005150 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0011675 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0012664 ORPHA:85451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001297 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001635 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001681 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001712 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001903 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001907 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0003416 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0012185 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0012332 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0025028 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0100550 ORPHA:85451 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001271 ORPHA:85451 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0001650 ORPHA:85451 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85451 ATTRV122I amyloidosis HP:0009830 ORPHA:85451 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0000174 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0000347 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0000444 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0001156 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0001633 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0003027 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0003043 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0004299 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0009804 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0100543 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0100818 ORPHA:1277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1276 Brachydactyly-arterial hypertension syndrome HP:0000822 ORPHA:1276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1276 Brachydactyly-arterial hypertension syndrome HP:0001156 ORPHA:1276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1276 Brachydactyly-arterial hypertension syndrome HP:0004322 ORPHA:1276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1276 Brachydactyly-arterial hypertension syndrome HP:0009803 ORPHA:1276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1276 Brachydactyly-arterial hypertension syndrome HP:0010049 ORPHA:1276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0025104 ORPHA:137667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0011276 ORPHA:137667 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0000421 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001004 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001009 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001722 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001892 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0002408 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0002637 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0004947 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0009127 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0012733 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0030713 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0100026 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0100763 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0100784 ORPHA:137667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0000011 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0000238 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0000996 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001028 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001250 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001627 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001635 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0001790 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0002076 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0002315 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0004302 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0010310 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137667 Capillary malformation-arteriovenous malformation HP:0020073 ORPHA:137667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0000256 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0001156 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0001231 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0001387 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0040071 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0003042 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0003063 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0004209 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0005048 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0006501 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome HP:0009832 ORPHA:1275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0000851 ORPHA:226313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0000853 ORPHA:226313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0002925 ORPHA:226313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0003270 ORPHA:226313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0031507 ORPHA:226313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0000158 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001070 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001265 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001319 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001520 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001537 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001538 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0002019 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0002045 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0002663 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0005280 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0005930 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0006579 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0008820 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0008872 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0100786 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0500011 ORPHA:226313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0000958 ORPHA:226313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0001662 ORPHA:226313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0002098 ORPHA:226313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0004491 ORPHA:226313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000496 ORPHA:247234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001251 ORPHA:247234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002066 ORPHA:247234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000572 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000608 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000640 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002354 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0012332 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0007670 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0007772 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0008278 ORPHA:247234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000338 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000763 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001257 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001260 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001291 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001300 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0001347 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002015 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002063 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002075 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002304 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002322 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002362 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0003487 ORPHA:247234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000020 ORPHA:247234 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0000726 ORPHA:247234 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology HP:0002080 ORPHA:247234 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000572 ORPHA:59181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0007754 ORPHA:59181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0030500 ORPHA:59181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0031528 ORPHA:59181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000610 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000662 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0001129 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0011506 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0030491 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0030602 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0030625 ORPHA:59181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000533 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000580 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0000618 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0001105 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0001141 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59181 Sorsby pseudoinflammatory fundus dystrophy HP:0007722 ORPHA:59181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000026 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000028 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000252 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000278 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000735 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000815 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000837 ORPHA:163976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0002750 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0004209 ORPHA:163976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0001256 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0001508 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0004322 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0001511 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0005978 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0007018 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0008187 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0008551 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0008734 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0004440 ORPHA:163976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0012646 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0040171 ORPHA:163976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002073 ORPHA:98756 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0045007 ORPHA:98756 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0000514 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0000623 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0000639 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0000726 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0001260 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0001265 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0001290 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0001332 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002066 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002072 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002174 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002380 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0003133 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0003394 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0006955 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0008311 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0012082 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0025461 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0030186 ORPHA:98756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0000597 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0001300 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002120 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0002536 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0006801 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98756 Spinocerebellar ataxia type 2 HP:0012762 ORPHA:98756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0000520 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0000590 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0000639 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0000651 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0000750 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0001260 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0001332 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0001347 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0002071 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0002073 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0002312 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0003202 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0007256 ORPHA:98757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0001605 ORPHA:98757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0001751 ORPHA:98757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98757 Spinocerebellar ataxia type 3 HP:0004370 ORPHA:98757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0000639 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002066 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002073 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002080 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002172 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002311 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002317 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0007979 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0030511 ORPHA:98758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0000504 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0000651 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0001347 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0002015 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0003487 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0010544 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0030842 ORPHA:98758 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0000643 ORPHA:98758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0001260 ORPHA:98758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98758 Spinocerebellar ataxia type 6 HP:0001332 ORPHA:98758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001251 ORPHA:98759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001288 ORPHA:98759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0000473 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0000643 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0000708 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001257 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001268 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001272 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001300 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0001332 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0002063 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0002072 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0002529 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0004305 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0007058 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0007256 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0007366 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0012082 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98759 Spinocerebellar ataxia type 17 HP:0002356 ORPHA:98759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000026 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000027 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000028 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000033 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000047 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000048 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000051 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000061 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000133 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000150 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000771 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0004322 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0001513 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0003251 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0008222 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0008669 ORPHA:261529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0000062 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0010460 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0010461 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0010464 ORPHA:261529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0012741 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261529 Ring chromosome Y syndrome HP:0100779 ORPHA:261529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000028 ORPHA:98754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001513 ORPHA:98754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002119 ORPHA:98754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0008872 ORPHA:98754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000044 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000046 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000060 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000064 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000486 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000708 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000709 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000717 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000729 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000786 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000789 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000823 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000824 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001252 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001256 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001328 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001508 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001773 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002205 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002591 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002650 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0003241 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0004322 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0006889 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0008734 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0010627 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0011734 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012104 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012105 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012650 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0025160 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0030339 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0031169 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0200055 ORPHA:98754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000819 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000938 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000939 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001250 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001263 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001385 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001518 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001558 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002360 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002578 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002714 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002870 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002871 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0007874 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0010741 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0010829 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0011787 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012166 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012411 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0012412 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0031100 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0031507 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0100716 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0100739 ORPHA:98754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000826 ORPHA:98754 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0001010 ORPHA:98754 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0002342 ORPHA:98754 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0005599 ORPHA:98754 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0007730 ORPHA:98754 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002073 ORPHA:98755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0009830 ORPHA:98755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0000496 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0000514 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001260 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001272 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001288 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001332 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001350 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002015 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002067 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002072 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002354 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002483 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0007001 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0007366 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0007377 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0007928 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0025331 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0025401 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0030216 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0040129 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0100543 ORPHA:98755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0000597 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0000639 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0000648 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001265 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001290 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0001310 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002075 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002141 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002174 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002363 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002380 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0002878 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0003202 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0006801 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0007338 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0010831 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98755 Spinocerebellar ataxia type 1 HP:0410011 ORPHA:98755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0000054 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0000368 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0000470 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0006610 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0000789 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0000914 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0010049 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0001249 ORPHA:261524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0001252 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0001256 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0001263 ORPHA:261524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0004322 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0002162 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0002916 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0002967 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0100853 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0008734 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261524 Paternal uniparental disomy of chromosome X HP:0011343 ORPHA:261524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001250 ORPHA:2590 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001336 ORPHA:2590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002366 ORPHA:2590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0004302 ORPHA:2590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0007340 ORPHA:2590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0012379 ORPHA:2590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0000708 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001337 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002100 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002123 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002312 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002355 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002359 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002747 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0010819 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0011147 ORPHA:2590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0000407 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001268 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001757 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002515 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002540 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002650 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002878 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0025097 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0025190 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0032667 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0045084 ORPHA:2590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001249 ORPHA:2590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0002015 ORPHA:2590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001371 ORPHA:2590 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001433 ORPHA:2590 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001609 ORPHA:2590 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0200036 ORPHA:2590 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0000077 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0000169 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0000271 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0000478 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0000765 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0000929 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0000934 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0000944 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0001376 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0001482 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0001595 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0002242 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0002575 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0002797 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0002894 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0003011 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0003072 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0004374 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0005107 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0005214 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0007400 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0008069 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0010614 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0012062 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0100242 ORPHA:2591 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0100526 ORPHA:2591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0100835 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2591 Infantile myofibromatosis HP:0200042 ORPHA:2591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000252 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000268 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000347 ORPHA:1261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000505 ORPHA:1261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000824 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0001256 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0001257 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0002119 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0002353 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0002514 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0004322 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0002829 ORPHA:85435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0002923 ORPHA:85435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0005764 ORPHA:85435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0001376 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0001386 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0002813 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0003565 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0005187 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0005930 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0006252 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0011227 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0030782 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0040311 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0100769 ORPHA:85435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0000938 ORPHA:85435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0004349 ORPHA:85435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0010588 ORPHA:85435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0100555 ORPHA:85435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000252 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000316 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000337 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000343 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000347 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000400 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000407 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000431 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000486 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000505 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000518 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000545 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000567 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000609 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000639 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000648 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0001250 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0001257 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0001288 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0001321 ORPHA:163937 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0001344 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0001508 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0002063 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0002120 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0002342 ORPHA:163937 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0002650 ORPHA:163937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0011344 ORPHA:163937 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0011118 ORPHA:85436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0000989 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0001803 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0002829 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0002960 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0003493 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0003765 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0005764 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0031090 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0031091 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0040313 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0100686 ORPHA:85436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0000554 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0000988 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0001376 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0002815 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0003019 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0003043 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0005197 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0007663 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0012122 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0025300 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0025526 ORPHA:85436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0001094 ORPHA:85436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0001101 ORPHA:85436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0001806 ORPHA:85436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0010754 ORPHA:85436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis HP:0012317 ORPHA:85436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001369 ORPHA:85438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0002829 ORPHA:85438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0100686 ORPHA:85438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0000925 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001384 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003028 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003418 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0004690 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0005086 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0008364 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0008843 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0012317 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0040313 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0100536 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0100712 ORPHA:85438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001627 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001760 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001832 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003019 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003043 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003319 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0003366 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0006217 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0009811 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0011842 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0011911 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0012122 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0031090 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0100711 ORPHA:85438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0000794 ORPHA:85438 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001634 ORPHA:85438 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0001659 ORPHA:85438 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis HP:0006698 ORPHA:85438 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0000016 ORPHA:1267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0000217 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0000651 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0001260 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0002014 ORPHA:1267 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0002015 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0002017 ORPHA:1267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0002019 ORPHA:1267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0002027 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0002093 ORPHA:1267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0006597 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0006824 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0010547 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0011499 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0011675 ORPHA:1267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0100021 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0009113 ORPHA:1267 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1267 Botulism HP:0012378 ORPHA:1267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0000164 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0000677 ORPHA:1264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0008070 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0001118 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0001155 ORPHA:1264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0001156 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0007703 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0010047 ORPHA:1264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0011069 ORPHA:1264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1264 Tricho-retino-dento-digital syndrome HP:0030056 ORPHA:1264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0000028 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0000774 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0000824 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0005916 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0001539 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0001561 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0001789 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0002818 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0002823 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0002983 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0002992 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0040071 ORPHA:1263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0003063 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0006101 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0006492 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0006703 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0008890 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0010318 ORPHA:1263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0011849 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0100569 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1263 Boomerang dysplasia HP:0100856 ORPHA:1263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1262 Böök syndrome HP:0000164 ORPHA:1262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1262 Böök syndrome HP:0000189 ORPHA:1262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1262 Böök syndrome HP:0000534 ORPHA:1262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1262 Böök syndrome HP:0000668 ORPHA:1262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1262 Böök syndrome HP:0000975 ORPHA:1262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1262 Böök syndrome HP:0001804 ORPHA:1262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1262 Böök syndrome HP:0002216 ORPHA:1262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1262 Böök syndrome HP:0007477 ORPHA:1262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1262 Böök syndrome HP:0007598 ORPHA:1262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1262 Böök syndrome HP:0200055 ORPHA:1262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001250 ORPHA:352582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0002123 ORPHA:352582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001260 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001272 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0006891 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0007359 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0011171 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0011197 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0025190 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0025373 ORPHA:352582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0000520 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0000643 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0000750 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001251 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001256 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001263 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001270 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0001288 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0002069 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0002312 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0002342 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0006889 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0025100 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0032388 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352582 Familial infantile myoclonic epilepsy HP:0045084 ORPHA:352582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2593 Tubular aggregate myopathy HP:0003326 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2593 Tubular aggregate myopathy HP:0003394 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2593 Tubular aggregate myopathy HP:0003458 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2593 Tubular aggregate myopathy HP:0003473 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2593 Tubular aggregate myopathy HP:0030200 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2593 Tubular aggregate myopathy HP:0100301 ORPHA:2593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2593 Tubular aggregate myopathy HP:0003557 ORPHA:2593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2593 Tubular aggregate myopathy HP:0003687 ORPHA:2593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2593 Tubular aggregate myopathy HP:0003554 ORPHA:2593 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0003756 ORPHA:2596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0007126 ORPHA:2596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0100651 ORPHA:2596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0002395 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0002540 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0003487 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0003546 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0003547 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0003551 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0009046 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0009073 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0012391 ORPHA:2596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0001260 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0002073 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0002098 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0002342 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0002359 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0003326 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0003477 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0003749 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0008944 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0012036 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0012507 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0030051 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0030319 ORPHA:2596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0000407 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0000726 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0001319 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0001771 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0002495 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0031258 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2596 Myopathy and diabetes mellitus HP:0100753 ORPHA:2596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0000407 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0001250 ORPHA:2597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0001942 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0003198 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0003202 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0003348 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0003457 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0003737 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0004320 ORPHA:2597 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000218 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000252 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000343 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000347 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000501 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000823 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0001249 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0001252 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0001903 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0001939 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0002650 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0002808 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0003128 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0003196 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0003198 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0003457 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0003737 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0009055 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0009743 ORPHA:2598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000027 ORPHA:261519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000062 ORPHA:261519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000233 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000252 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000470 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000914 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001010 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001249 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001250 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001274 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001263 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001371 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001399 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0004322 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001635 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0001838 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0002162 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0002650 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0002916 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0002967 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0003186 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0003248 ORPHA:261519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0003550 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0005280 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0008193 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0100490 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0000140 ORPHA:137686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0000868 ORPHA:137686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0000876 ORPHA:137686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0000789 ORPHA:137686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0000869 ORPHA:137686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0002574 ORPHA:137686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0005268 ORPHA:137686 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0100607 ORPHA:137686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0100608 ORPHA:137686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0031035 ORPHA:137686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137686 Asherman syndrome HP:0100767 ORPHA:137686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0000177 ORPHA:1253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0000218 ORPHA:1253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0000316 ORPHA:1253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0000445 ORPHA:1253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0000492 ORPHA:1253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0000505 ORPHA:1253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0000508 ORPHA:1253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0000581 ORPHA:1253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0000821 ORPHA:1253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0000853 ORPHA:1253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0004097 ORPHA:1253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1253 Ascher syndrome HP:0012724 ORPHA:1253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000154 ORPHA:163956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000958 ORPHA:163956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002194 ORPHA:163956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002465 ORPHA:163956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0009765 ORPHA:163956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000054 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000076 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000233 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000256 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000316 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000475 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000582 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000664 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000718 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001250 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001629 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001761 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001773 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002162 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002230 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002500 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002714 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0003265 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0005280 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0006610 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0007103 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0010529 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0010864 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0012450 ORPHA:163956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000028 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000047 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000348 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000365 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000400 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000430 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000486 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000519 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0000722 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001562 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001636 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001643 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001655 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001718 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001719 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001776 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001845 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0001875 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002002 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002092 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002205 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0002342 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0004467 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0004969 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0005345 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0007509 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0008404 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0010721 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0011800 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0011913 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0012110 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0030311 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0100760 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0100838 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163956 X-linked intellectual disability, Nascimento type HP:0410018 ORPHA:163956 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000023 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000028 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000175 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000286 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000298 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000343 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000365 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000430 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000431 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000445 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000499 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000506 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000581 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000632 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0000648 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001072 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001249 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001304 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001347 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001582 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0001608 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0002162 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0005338 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0005692 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0006101 ORPHA:1252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0008572 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0009804 ORPHA:1252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1252 Blepharonasofacial malformation syndrome HP:0100335 ORPHA:1252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001025 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001072 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001369 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001376 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001880 ORPHA:2582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0001888 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0002103 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0003011 ORPHA:2582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0005469 ORPHA:2582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan HP:0007328 ORPHA:2582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0001015 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0001482 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0002841 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0003330 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0005406 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0010219 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0030053 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0031288 ORPHA:2583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0000939 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0001155 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0002754 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0002815 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0011844 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0025245 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0040072 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0100763 ORPHA:2583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0000152 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0000707 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0000765 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0002661 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0002756 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0002953 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0003312 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0003418 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0010550 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0012062 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0031500 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0031501 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2583 Mycetoma HP:0100809 ORPHA:2583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0000492 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0000958 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0000962 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0000964 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0000969 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0000988 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0000989 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0001029 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0001053 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0001596 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0001597 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0001744 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0002240 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0002665 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0002716 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0004332 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0005561 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0007400 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0008069 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0010783 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0012192 ORPHA:2584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0200035 ORPHA:2584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2584 Classic mycosis fungoides HP:0200042 ORPHA:2584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0000252 ORPHA:2585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0000639 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001251 ORPHA:2585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001272 ORPHA:2585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001288 ORPHA:2585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001347 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001744 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001874 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001876 ORPHA:2585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0001908 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0002167 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0002205 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0002317 ORPHA:2585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0004311 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0004313 ORPHA:2585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0004820 ORPHA:2585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0007360 ORPHA:2585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0011869 ORPHA:2585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0001249 ORPHA:352577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0001263 ORPHA:352577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0002167 ORPHA:352577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0008872 ORPHA:352577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0008947 ORPHA:352577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000252 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000486 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000729 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000924 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0001344 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0002187 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0002705 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0010864 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000194 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000232 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000268 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000316 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000414 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000426 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000430 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000494 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000582 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000664 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000678 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0001166 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0001250 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0001276 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0001320 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0001519 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0001763 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0002342 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0002360 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0002500 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0002540 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0002553 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0002650 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0003189 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0004673 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0009765 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0011220 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0100023 ORPHA:352577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000160 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000233 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000303 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000327 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000365 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000772 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000926 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0001156 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0001249 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0001263 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0001328 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0001387 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0001511 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0003172 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0003510 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0003712 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0004279 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0004493 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0008818 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0011800 ORPHA:2588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000028 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000159 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000508 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000581 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000822 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000944 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0001072 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0001671 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0003457 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0005930 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0008499 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0012745 ORPHA:2588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000023 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000036 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000039 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000047 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000135 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000175 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000176 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000193 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000518 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000708 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0000826 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0003241 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0030690 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0100333 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2588 Myhre syndrome HP:0100541 ORPHA:2588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0000269 ORPHA:1259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0000501 ORPHA:1259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0000508 ORPHA:1259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0000545 ORPHA:1259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0000612 ORPHA:1259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0001083 ORPHA:1259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0007703 ORPHA:1259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0011039 ORPHA:1259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0100540 ORPHA:1259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome HP:0100798 ORPHA:1259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0001260 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0001336 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0002073 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0002080 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0002522 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0003445 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0003700 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0007141 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0007240 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome HP:0008619 ORPHA:2589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000252 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000340 ORPHA:2570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000347 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000369 ORPHA:2570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000470 ORPHA:2570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000490 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000581 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0001181 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0001360 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0001376 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0001511 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0001558 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0002103 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0002120 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0002324 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0002828 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0006703 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0007360 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0007370 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0007477 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0008678 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0010662 ORPHA:2570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0100490 ORPHA:2570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0100625 ORPHA:2570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome HP:0001251 ORPHA:2579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome HP:0003198 ORPHA:2579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome HP:0005978 ORPHA:2579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome HP:0007703 ORPHA:2579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139414 Congenital panfollicular nevus HP:0010566 ORPHA:139414 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:139414 Congenital panfollicular nevus HP:0012500 ORPHA:139414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139414 Congenital panfollicular nevus HP:0200036 ORPHA:139414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139414 Congenital panfollicular nevus HP:0000962 ORPHA:139414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139414 Congenital panfollicular nevus HP:0000989 ORPHA:139414 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:139414 Congenital panfollicular nevus HP:0012531 ORPHA:139414 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0000822 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0001541 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0001649 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0001903 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002014 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002017 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002027 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002039 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002113 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002239 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002315 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002666 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002668 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002716 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0002717 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0008256 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0011675 ORPHA:139411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0012378 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0100243 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0100721 ORPHA:139411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139411 Carney triad HP:0100723 ORPHA:139411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1243 Best vitelliform macular dystrophy HP:0000505 ORPHA:1243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1243 Best vitelliform macular dystrophy HP:0000551 ORPHA:1243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1243 Best vitelliform macular dystrophy HP:0001123 ORPHA:1243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1243 Best vitelliform macular dystrophy HP:0001139 ORPHA:1243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1243 Best vitelliform macular dystrophy HP:0008028 ORPHA:1243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1243 Best vitelliform macular dystrophy HP:0012508 ORPHA:1243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0001324 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002071 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002922 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0003474 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0012229 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0012332 ORPHA:139417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0000016 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0000020 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0000822 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0001257 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0001278 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0001287 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0001288 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0001347 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0001945 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002019 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002138 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002385 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002493 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002495 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002578 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002590 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002721 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002725 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002839 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0002960 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0003401 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0003418 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0003484 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0003487 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0004370 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0005341 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0007305 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0009053 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0010547 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0010550 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0010831 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0010835 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0011967 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0011972 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0012378 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0012534 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0025615 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0031179 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0031691 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0031700 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0031845 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0032271 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0032283 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0100502 ORPHA:139417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139417 Acute transverse myelitis HP:0200023 ORPHA:139417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1241 Bencze syndrome HP:0000176 ORPHA:1241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1241 Bencze syndrome HP:0000324 ORPHA:1241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1241 Bencze syndrome HP:0000486 ORPHA:1241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1241 Bencze syndrome HP:0000506 ORPHA:1241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1241 Bencze syndrome HP:0000582 ORPHA:1241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1241 Bencze syndrome HP:0000646 ORPHA:1241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1241 Bencze syndrome HP:0005325 ORPHA:1241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1241 Bencze syndrome HP:0010807 ORPHA:1241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000286 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000316 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000431 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000457 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000506 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000940 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0000944 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0001156 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0001249 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0001373 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0001831 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002007 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002650 ORPHA:1240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002673 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002823 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002970 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0002983 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0003510 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0005616 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0006059 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0006487 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0010579 ORPHA:1240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0011220 ORPHA:1240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1240 Metaphyseal acroscyphodysplasia HP:0012368 ORPHA:1240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0000044 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0000141 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0000789 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0000824 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0000938 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0001943 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0002615 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0002920 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0005625 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0012378 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0040086 ORPHA:95619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0000823 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0000863 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0000871 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0001510 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0002750 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0008245 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0008734 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0009888 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95619 Post-traumatic pituitary deficiency HP:0010311 ORPHA:95619 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0000009 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0000639 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0000662 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0001276 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0001347 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0002205 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0004374 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0008348 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0012638 ORPHA:2571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0000518 ORPHA:2571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0002103 ORPHA:2571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2571 X-linked immunoneurologic disorder HP:0003198 ORPHA:2571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0000519 ORPHA:2572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0000545 ORPHA:2572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0000648 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0001131 ORPHA:2572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0001251 ORPHA:2572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0001288 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0002497 ORPHA:2572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0002503 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0003457 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0004313 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0004374 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome HP:0007360 ORPHA:2572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2573 Moyamoya disease HP:0001009 ORPHA:2573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2573 Moyamoya disease HP:0001249 ORPHA:2573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2573 Moyamoya disease HP:0001250 ORPHA:2573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2573 Moyamoya disease HP:0002119 ORPHA:2573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2573 Moyamoya disease HP:0100659 ORPHA:2573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2574 Moynahan syndrome HP:0000135 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2574 Moynahan syndrome HP:0000252 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2574 Moynahan syndrome HP:0000407 ORPHA:2574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2574 Moynahan syndrome HP:0000962 ORPHA:2574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2574 Moynahan syndrome HP:0001249 ORPHA:2574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2574 Moynahan syndrome HP:0001250 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2574 Moynahan syndrome HP:0001596 ORPHA:2574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2574 Moynahan syndrome HP:0004322 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2574 Moynahan syndrome HP:0004326 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2574 Moynahan syndrome HP:0008070 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000083 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000093 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000407 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000509 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000554 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000763 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000790 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000988 ORPHA:36412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0000989 ORPHA:36412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001250 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001251 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001287 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001315 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001369 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001373 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001541 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001654 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001698 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0001744 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002014 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002017 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002027 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002091 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002094 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002097 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002105 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002202 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002240 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002665 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002716 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002718 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0002960 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0003326 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0004374 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0004431 ORPHA:36412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0006536 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0006824 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0007400 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0009830 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0011944 ORPHA:36412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0012735 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100021 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100326 ORPHA:36412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100533 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100534 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100665 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36412 Hypocomplementemic urticarial vasculitis HP:0100820 ORPHA:36412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000047 ORPHA:2575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000049 ORPHA:2575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000100 ORPHA:2575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000316 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000347 ORPHA:2575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000400 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000431 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000490 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000506 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000807 ORPHA:2575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0001249 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0001877 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0001889 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0002007 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0002014 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0002205 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0004826 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0005263 ORPHA:2575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2576 Mulibrey nanism HP:0000256 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2576 Mulibrey nanism HP:0000431 ORPHA:2576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2576 Mulibrey nanism HP:0001315 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2576 Mulibrey nanism HP:0001511 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2576 Mulibrey nanism HP:0001620 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2576 Mulibrey nanism HP:0002240 ORPHA:2576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2576 Mulibrey nanism HP:0002680 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2576 Mulibrey nanism HP:0004322 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2576 Mulibrey nanism HP:0004326 ORPHA:2576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0030521 ORPHA:95613 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0030907 ORPHA:95613 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000651 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000802 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000815 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000822 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000876 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0001943 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0002017 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0002315 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0002615 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0002893 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0002902 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0006824 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0008202 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0008245 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0011748 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0030591 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0030595 ORPHA:95613 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000508 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000613 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000622 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000824 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000870 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000980 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0001259 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0001945 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0002921 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0007663 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0011499 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0012378 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0040075 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0100829 ORPHA:95613 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000845 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0000863 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0001262 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0001289 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0003118 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0001895 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0002339 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95613 Pituitary apoplexy HP:0100661 ORPHA:95613 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0000175 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0000303 ORPHA:1248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0000327 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0000457 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0000691 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0001065 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0002000 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0002650 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0003196 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0004609 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0005280 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0005288 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0008428 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0009804 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0009882 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0010185 ORPHA:1248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0010807 ORPHA:1248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0011800 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0011892 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1248 Maxillonasal dysplasia HP:0012368 ORPHA:1248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000027 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000086 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000104 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000110 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000365 ORPHA:2578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000470 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000772 ORPHA:2578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000813 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0002162 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0003422 ORPHA:2578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0004322 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0008684 ORPHA:2578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0002352 ORPHA:83629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0005871 ORPHA:83629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0000505 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0000587 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0001249 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0001258 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0001288 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0001337 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0001347 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0002059 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0002062 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0002079 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0003020 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0003487 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0004349 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0012747 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0030866 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0030051 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0100707 ORPHA:83629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0000463 ORPHA:83629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0000666 ORPHA:83629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0005280 ORPHA:83629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0011800 ORPHA:83629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0000028 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0000047 ORPHA:83628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0000048 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0000054 ORPHA:83628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0000059 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0000062 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0000075 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0000076 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0000104 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0000136 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0001028 ORPHA:83628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0002023 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0002414 ORPHA:83628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0002475 ORPHA:83628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0002836 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0004397 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83628 LUMBAR syndrome HP:0010609 ORPHA:83628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0000719 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0001251 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0002063 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0002072 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0002354 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0100543 ORPHA:401901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0000709 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0000716 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0000739 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0001300 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0001332 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0001337 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0002493 ORPHA:401901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401901 Huntington disease-like syndrome due to C9ORF72 expansions HP:0001336 ORPHA:401901 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83620 Enteric anendocrinosis HP:0001944 ORPHA:83620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83620 Enteric anendocrinosis HP:0002013 ORPHA:83620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83620 Enteric anendocrinosis HP:0002014 ORPHA:83620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83620 Enteric anendocrinosis HP:0002024 ORPHA:83620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83620 Enteric anendocrinosis HP:0004918 ORPHA:83620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83620 Enteric anendocrinosis HP:0001409 ORPHA:83620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83620 Enteric anendocrinosis HP:0002611 ORPHA:83620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83620 Enteric anendocrinosis HP:0025354 ORPHA:83620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83620 Enteric anendocrinosis HP:0100651 ORPHA:83620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000174 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000248 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000252 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000303 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000316 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000324 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000337 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000384 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000486 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000506 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000568 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000592 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000612 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000668 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000765 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0001182 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0001250 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0001276 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0002006 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0002007 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0002558 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0002650 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0007477 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0007598 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0009748 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0010751 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0011304 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0100022 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0100267 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0100490 ORPHA:1236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0100543 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0100720 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0000083 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0000100 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0000988 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001019 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001695 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001824 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001880 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001945 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0001970 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0002094 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0002113 ORPHA:139402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0002383 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0002716 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0002910 ORPHA:139402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0006515 ORPHA:139402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0006554 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0009830 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0010783 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0012115 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0012733 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0012735 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0012819 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0030249 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0100326 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0100646 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0100665 ORPHA:139402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0100827 ORPHA:139402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms HP:0200039 ORPHA:139402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0000050 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0000062 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0000160 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0000161 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0000175 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0000252 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0000347 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0000430 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0000625 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0001249 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0001770 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0001800 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0001883 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0030680 ORPHA:1234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0003196 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0006101 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0007418 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0007957 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0008678 ORPHA:1234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0009755 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0009756 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0009777 ORPHA:1234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0010185 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0100240 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0100840 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1234 Bartsocas-Papas syndrome HP:0200102 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0000496 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0001252 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0001332 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0001336 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0001522 ORPHA:139406 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0001744 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0002069 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0002093 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0002205 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139406 Encephalopathy due to prosaposin deficiency HP:0002240 ORPHA:139406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000049 ORPHA:1231 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000154 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000271 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000316 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000365 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000377 ORPHA:1231 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000413 ORPHA:1231 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000414 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000431 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000463 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000506 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000656 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000684 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0000974 ORPHA:1231 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0001508 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0001582 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0002230 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0002557 ORPHA:1231 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0008065 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0011224 ORPHA:1231 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0100783 ORPHA:1231 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0100840 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1231 Barber-Say syndrome HP:0200102 ORPHA:1231 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0001258 ORPHA:306617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0001256 ORPHA:306617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0002342 ORPHA:306617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0002493 ORPHA:306617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0007340 ORPHA:306617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0100543 ORPHA:306617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0001181 ORPHA:306617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0001251 ORPHA:306617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306617 X-linked complicated spastic paraplegia type 1 HP:0001268 ORPHA:306617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000044 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000182 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000298 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000486 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000544 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0001167 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0001252 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0001776 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0002342 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0002540 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0003477 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0007108 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0007209 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0008000 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0045037 ORPHA:2560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0001513 ORPHA:2563 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000179 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000215 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000218 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000248 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000256 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000316 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000319 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000337 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000343 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000348 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000470 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000486 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000494 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000501 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000567 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000625 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000639 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000679 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000684 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000689 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000879 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000965 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0001176 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0001249 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0001250 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0001520 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0001548 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0001795 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0001833 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0002007 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0002980 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0004322 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0007633 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000286 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0008577 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0011849 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0012810 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0025112 ORPHA:2563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000098 ORPHA:2563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000618 ORPHA:2563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000717 ORPHA:2563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0006585 ORPHA:2563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2563 MOMO syndrome HP:0000820 ORPHA:2563 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2564 Tetramelic monodactyly HP:0001171 ORPHA:2564 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2564 Tetramelic monodactyly HP:0012165 ORPHA:2564 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000028 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000062 ORPHA:1237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000347 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000368 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000414 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0000431 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0001252 ORPHA:1237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0001334 ORPHA:1237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0001873 ORPHA:1237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0002002 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0002093 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0030680 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1237 Beemer-Ertbruggen syndrome HP:0011001 ORPHA:1237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0005227 ORPHA:401911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0200063 ORPHA:401911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0003003 ORPHA:401911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0100743 ORPHA:401911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0000968 ORPHA:401911 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:0008070 ORPHA:401911 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis HP:3000050 ORPHA:401911 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000154 ORPHA:83619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000316 ORPHA:83619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000384 ORPHA:83619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000508 ORPHA:83619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000602 ORPHA:83619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0004467 ORPHA:83619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0011272 ORPHA:83619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0011338 ORPHA:83619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0000083 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0000505 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0000509 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0000613 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0000621 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0000795 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0001637 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0001645 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0001658 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0001733 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0001824 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0001873 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0001874 ORPHA:36426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0001903 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0001945 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0001960 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002014 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002015 ORPHA:36426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002017 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002027 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002043 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002091 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002094 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002103 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002205 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002239 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0002910 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0003781 ORPHA:36426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0006554 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0008066 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0010783 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0012378 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0012733 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0012735 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0030016 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0100518 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0100792 ORPHA:36426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0100806 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36426 Stevens-Johnson syndrome HP:0200020 ORPHA:36426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0010976 ORPHA:83617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000175 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000252 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000347 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000369 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000430 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000452 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000581 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001036 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001051 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001166 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001263 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001508 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002098 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002850 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0004440 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0008897 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0011471 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0025092 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0031190 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000023 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000028 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000054 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000126 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000160 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000244 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000278 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000286 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000348 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000431 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000494 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000883 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000890 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000954 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000964 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000989 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001081 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001344 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001511 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0001845 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002021 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002089 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002208 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002240 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002506 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002594 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0002949 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0004425 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0004616 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0005365 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0006560 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0009697 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0011682 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0012444 ORPHA:83617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000219 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000252 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000322 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000331 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000358 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000430 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001256 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001488 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001763 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001863 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0004322 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0009237 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0011833 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000028 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000047 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000054 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000126 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000175 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000238 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000337 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000453 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000494 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000520 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000582 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001187 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001321 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001629 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001631 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001643 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001782 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001838 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001873 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0001903 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002093 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002170 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002682 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002777 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002901 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0002904 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0004691 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0005306 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0006610 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0008386 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0008551 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0010511 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0011467 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0011611 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0030148 ORPHA:163979 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0002121 ORPHA:139431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0011168 ORPHA:139431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0002123 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0010852 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0010858 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0011185 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0011193 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0020216 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0025190 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0045084 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0100785 ORPHA:139431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0000739 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0001249 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0001328 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0002373 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0002457 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0007704 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0010819 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0010850 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0011182 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0012001 ORPHA:139431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0010818 ORPHA:139431 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:139431 Jeavons syndrome HP:0031491 ORPHA:139431 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000069 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000076 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000126 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000160 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000175 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000218 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000239 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000244 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000248 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000275 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000286 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000316 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000337 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000347 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000405 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000426 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000446 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000520 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000601 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0000639 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0001029 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0005916 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0001180 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0001191 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0001510 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0001511 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0001531 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0001545 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0001671 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0002007 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0002023 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0002024 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0002650 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0002665 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0002669 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0003196 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0004322 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0006487 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0006498 ORPHA:1225 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0006501 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0009601 ORPHA:1225 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0100542 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1225 Baller-Gerold syndrome HP:0100589 ORPHA:1225 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0000486 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0000639 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0001249 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0001263 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0001328 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0001387 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0002300 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0002381 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0002381 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0002984 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0003022 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0003042 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0003196 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0003510 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0007957 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0010529 ORPHA:2557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0000348 ORPHA:2557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0000431 ORPHA:2557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0000445 ORPHA:2557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0003070 ORPHA:2557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0004209 ORPHA:2557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0000252 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0000482 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0000518 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0000647 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0001385 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0001840 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0001883 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0002673 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0002812 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0002827 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0002991 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2557 Mietens syndrome HP:0005743 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139436 Multicentric reticulohistiocytosis HP:0001324 ORPHA:139436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139436 Multicentric reticulohistiocytosis HP:0001369 ORPHA:139436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139436 Multicentric reticulohistiocytosis HP:0001945 ORPHA:139436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139436 Multicentric reticulohistiocytosis HP:0004326 ORPHA:139436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139436 Multicentric reticulohistiocytosis HP:0100727 ORPHA:139436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139436 Multicentric reticulohistiocytosis HP:0200036 ORPHA:139436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0001276 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0002267 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0002376 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0002384 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0007333 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0010818 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0012018 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0200134 ORPHA:163985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163985 Hyperekplexia-epilepsy syndrome HP:0000243 ORPHA:163985 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0001288 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0002901 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0000117 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0002669 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0011847 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0003468 ORPHA:352540 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0003155 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0030731 ORPHA:352540 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0001067 ORPHA:352540 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0001324 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0003109 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0002148 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0010734 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0002653 ORPHA:352540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0003701 ORPHA:352540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0002659 ORPHA:352540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0002756 ORPHA:352540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0010622 ORPHA:352540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0002823 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0012288 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0001850 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0001760 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0040163 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0002982 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352540 Oncogenic osteomalacia HP:0002991 ORPHA:352540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1221 Cheilitis glandularis HP:0000179 ORPHA:1221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1221 Cheilitis glandularis HP:0002664 ORPHA:1221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1221 Cheilitis glandularis HP:0002860 ORPHA:1221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1221 Cheilitis glandularis HP:0010286 ORPHA:1221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1221 Cheilitis glandularis HP:0010978 ORPHA:1221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0001824 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002027 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002028 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002254 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002721 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0005407 ORPHA:2552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0000246 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0001945 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002013 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002018 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002039 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0011277 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0012384 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0012387 ORPHA:2552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0000024 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0000123 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0000206 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0000491 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0000572 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0000828 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0000849 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0001080 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0001096 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0001250 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0001733 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0001743 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0001944 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002090 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002383 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002586 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002754 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002778 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0002840 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0004326 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0005561 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0008777 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0011027 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0011950 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0012115 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0012804 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0012819 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0025439 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0030049 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0030126 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0030151 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0100584 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0100614 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0100646 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0100806 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0200036 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2552 Microsporidiosis HP:0500006 ORPHA:2552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0000252 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0001250 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0001257 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0001347 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0002120 ORPHA:1229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0002514 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0100022 ORPHA:1229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1228 Banki syndrome HP:0001156 ORPHA:1228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1228 Banki syndrome HP:0005916 ORPHA:1228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1228 Banki syndrome HP:0004209 ORPHA:1228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1228 Banki syndrome HP:0005048 ORPHA:1228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000028 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000160 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000252 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000278 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000347 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000356 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000413 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0001508 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0001510 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0001511 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0002750 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0003100 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0003510 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0004209 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0005692 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0005930 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0009892 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0009939 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0011267 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0011968 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000059 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000060 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000064 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000327 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000358 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000369 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000772 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0001363 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0002094 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0002098 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0002705 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0002878 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0006443 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0006660 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0008665 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0100490 ORPHA:2554 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000039 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000047 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000175 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000176 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000193 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000365 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0001249 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0001263 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0001328 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0003042 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0008736 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0012471 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2554 Ear-patella-short stature syndrome HP:0100783 ORPHA:2554 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000035 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000147 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000164 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000252 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000275 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000340 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000444 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000490 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000821 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000828 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0000842 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0001249 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0001250 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0001251 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0001511 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0003118 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0002353 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0004097 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0004322 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0008193 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1227 Bangstad syndrome HP:0100651 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1226 Bamforth-Lazarus syndrome HP:0000175 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1226 Bamforth-Lazarus syndrome HP:0000278 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1226 Bamforth-Lazarus syndrome HP:0000453 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1226 Bamforth-Lazarus syndrome HP:0000851 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1226 Bamforth-Lazarus syndrome HP:0001249 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1226 Bamforth-Lazarus syndrome HP:0001561 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1226 Bamforth-Lazarus syndrome HP:0008191 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1226 Bamforth-Lazarus syndrome HP:0011362 ORPHA:1226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000528 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000568 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000647 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000776 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000953 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001000 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0004334 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0007957 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0008065 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0010783 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011800 ORPHA:2556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000278 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000347 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000431 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000445 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000492 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000499 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000598 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000614 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001053 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001639 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001644 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001671 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001999 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0003510 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0004327 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0007703 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0009939 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011531 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011675 ORPHA:2556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000035 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000036 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000037 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000039 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000047 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000062 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000238 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000252 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000363 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000365 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000501 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000556 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000572 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000618 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000627 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000646 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000682 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000960 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001249 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001250 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001263 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001274 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001328 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001331 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001508 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001510 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001597 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001634 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001653 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0001704 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002034 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002094 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002098 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002133 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002300 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002381 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002381 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0002878 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0004302 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0004378 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0005180 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0007731 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0007973 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0008665 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0010529 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011027 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011265 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0011968 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0000988 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0000989 ORPHA:37748 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0001025 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0001369 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0001744 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0001903 ORPHA:37748 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0001945 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0001974 ORPHA:37748 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0002240 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0002633 ORPHA:37748 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0002653 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0002665 ORPHA:37748 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0002716 ORPHA:37748 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0002829 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0003326 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0003496 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0009830 ORPHA:37748 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0011001 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0012378 ORPHA:37748 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0012733 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37748 Schnitzler syndrome HP:0200034 ORPHA:37748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000174 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000219 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000431 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000486 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000494 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000577 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000687 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000750 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001156 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001252 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001263 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0011078 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0011220 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0031936 ORPHA:477993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000028 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000041 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000047 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000256 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000316 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000463 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000592 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000657 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000664 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000998 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001182 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001488 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001655 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0001800 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0002079 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0002169 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0002209 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0002558 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0004209 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0006895 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0009778 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0009890 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0011832 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0012081 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0012430 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0012448 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0030048 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0045075 ORPHA:477993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0000303 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0000455 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0000470 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0000894 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001182 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001256 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001644 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001647 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001659 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0001999 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0002553 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0002947 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0003124 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0004322 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0005978 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0011342 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0011822 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0012368 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0025502 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0100817 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0100874 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401923 9q31.1q31.3 microdeletion syndrome HP:0200055 ORPHA:401923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0006846 ORPHA:83601 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000872 ORPHA:83601 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0005318 ORPHA:83601 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000821 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000853 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0001289 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002500 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002902 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0003470 ORPHA:83601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000709 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000716 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0000739 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0001873 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0001945 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0001974 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002017 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002133 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002197 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002315 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0012332 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002721 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0001336 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0007359 ORPHA:83601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0005991 ORPHA:83601 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0002181 ORPHA:83601 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0001298 ORPHA:83600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0002360 ORPHA:83600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0000651 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0001254 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0001268 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0001300 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0001337 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0001945 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0002315 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0002922 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0002960 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0003326 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0003484 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0004429 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0005986 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0007146 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0010702 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0012547 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0025439 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0100660 ORPHA:83600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0000020 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0000613 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0000709 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0001250 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0001259 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0001662 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0002607 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0002883 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0009763 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83600 Encephalitis lethargica HP:0025258 ORPHA:83600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0007404 ORPHA:530838 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0007447 ORPHA:530838 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0000958 ORPHA:530838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0001551 ORPHA:530838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0010783 ORPHA:530838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0012203 ORPHA:530838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0001047 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0001598 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0004690 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0006203 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0007446 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0025524 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0032523 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0032541 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0040189 ORPHA:530838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0000277 ORPHA:1214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0000324 ORPHA:1214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0000347 ORPHA:1214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0007400 ORPHA:1214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0001250 ORPHA:1214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0003011 ORPHA:1214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0008065 ORPHA:1214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0100555 ORPHA:1214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0000490 ORPHA:1214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0000508 ORPHA:1214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1214 Progressive hemifacial atrophy HP:0001100 ORPHA:1214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000219 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000248 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000252 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000286 ORPHA:352530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000311 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000316 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000341 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000377 ORPHA:352530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000431 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000664 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001263 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000851 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001182 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001250 ORPHA:352530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001252 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001321 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001513 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0001999 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002047 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002079 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002120 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002123 ORPHA:352530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002265 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0002714 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0004209 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0009891 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0007052 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0010864 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0007642 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0011228 ORPHA:352530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0012443 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0000014 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0000072 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0000347 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0000568 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0001376 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0001561 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0001643 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0002007 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0003196 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0008551 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0008736 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0009773 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0010935 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0100490 ORPHA:2547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome HP:0100867 ORPHA:2547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000076 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000078 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000154 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000175 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000202 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000324 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000359 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000384 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000405 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000407 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0000413 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0001177 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0001199 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0030680 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0003458 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0003778 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0004322 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0004397 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0004452 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0004467 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0006511 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0006695 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0006703 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0008056 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0008551 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0008678 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0008706 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0009601 ORPHA:2549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0009800 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0100335 ORPHA:2549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2549 Oculoauriculovertebral spectrum with radial defects HP:0100543 ORPHA:2549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139426 Perioral myoclonia with absences HP:0002069 ORPHA:139426 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:139426 Perioral myoclonia with absences HP:0010850 ORPHA:139426 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:139426 Perioral myoclonia with absences HP:0002371 ORPHA:139426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139426 Perioral myoclonia with absences HP:0004372 ORPHA:139426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139426 Perioral myoclonia with absences HP:0011168 ORPHA:139426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139426 Perioral myoclonia with absences HP:0012462 ORPHA:139426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139426 Perioral myoclonia with absences HP:0001249 ORPHA:139426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139426 Perioral myoclonia with absences HP:0002121 ORPHA:139426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139426 Perioral myoclonia with absences HP:0002123 ORPHA:139426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139426 Perioral myoclonia with absences HP:0002527 ORPHA:139426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy HP:0001252 ORPHA:1216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy HP:0001387 ORPHA:1216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy HP:0003693 ORPHA:1216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy HP:0004326 ORPHA:1216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1216 Autosomal dominant congenital benign spinal muscular atrophy HP:0008964 ORPHA:1216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000529 ORPHA:1215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000648 ORPHA:1215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000407 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000590 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000649 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001488 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0003198 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0003325 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0003737 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0004463 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0012378 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0020119 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0100285 ORPHA:1215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000763 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001133 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001251 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001258 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001761 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0003438 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0003444 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0007002 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0009830 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0012511 ORPHA:1215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0000819 ORPHA:1215 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0001638 ORPHA:1215 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1215 Autosomal dominant optic atrophy plus syndrome HP:0002076 ORPHA:1215 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000003 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000059 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000076 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000083 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000130 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000175 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000218 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000233 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000248 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000252 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000294 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000343 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000347 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000368 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000400 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000405 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000407 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000453 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000463 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000470 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000486 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000498 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000501 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000518 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000545 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000574 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000639 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000664 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000667 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000684 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000687 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000717 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000722 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000767 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000776 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000786 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000823 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000965 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001249 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001250 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000028 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000047 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000413 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000482 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000508 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000527 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0000739 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001252 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001276 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001385 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001387 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001508 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001511 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001557 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001622 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001629 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001631 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001770 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001773 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001883 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0001956 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002020 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002021 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002119 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002120 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002162 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002167 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002230 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002360 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002553 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002557 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0030680 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002566 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002580 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002714 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002750 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002827 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002974 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0002983 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0040071 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0003042 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0003196 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0004209 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0004322 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0005280 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0007018 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0007360 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0007598 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0007665 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0008736 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0008850 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0008872 ORPHA:199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0009623 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0009830 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0010034 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0010300 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0010864 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0010880 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0012165 ORPHA:199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:199 Cornelia de Lange syndrome HP:0200055 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0000078 ORPHA:195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0000126 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0000316 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0000365 ORPHA:195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0000384 ORPHA:195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0000494 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0000567 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0000568 ORPHA:195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0000612 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0000772 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0001252 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0001256 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0001385 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0001511 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0002023 ORPHA:195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0030680 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0004322 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0004467 ORPHA:195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0008678 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:195 Cat-eye syndrome HP:0100542 ORPHA:195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000239 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000270 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000271 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000929 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000974 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0001249 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0001263 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0001328 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002514 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0005692 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0100777 ORPHA:198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000343 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000767 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000768 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000926 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000938 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000939 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000952 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000978 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000987 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0001156 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0001252 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0001396 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002015 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002020 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002033 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002036 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002045 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002578 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002617 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002705 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002748 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002749 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0003019 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0004279 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0004408 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0005293 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0010562 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0012115 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0025270 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0100240 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0100633 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0100699 ORPHA:198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000010 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000015 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000023 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000348 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000494 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0000774 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0001385 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0001763 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002208 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002650 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002673 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002797 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002808 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002812 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002827 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002857 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0002991 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0003172 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0003874 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0005743 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0006507 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0006660 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0008818 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0009556 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0100541 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0100874 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:198 Occipital horn syndrome HP:0200021 ORPHA:198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000154 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000179 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000189 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000194 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000218 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000232 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000252 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000280 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000286 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000316 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000327 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000407 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000411 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000445 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000463 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000486 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000494 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000518 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000648 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000668 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000684 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000687 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000767 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000768 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0000940 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001156 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001176 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001182 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001249 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001250 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001252 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001276 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001288 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001324 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001500 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001582 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001633 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001646 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001702 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001763 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001804 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0001812 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0002007 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0002119 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0002120 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0002167 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0002191 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0002269 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0002650 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0002750 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0002808 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0002868 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0003202 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0003312 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0004322 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0004493 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0005280 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0005692 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0006288 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0006482 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0007360 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0007370 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0007703 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0008872 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0009193 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0009882 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0009928 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0010049 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0010535 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0011344 ORPHA:192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0100613 ORPHA:192 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:192 Coffin-Lowry syndrome HP:0100716 ORPHA:192 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0000099 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0001824 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0001945 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0002039 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0002829 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0003326 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0005368 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0010876 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0011123 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0011227 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0012649 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0030166 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0031691 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0032018 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0200029 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0410008 ORPHA:48435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0000093 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0000790 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0000793 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0000822 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0000965 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0001063 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0001369 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0001482 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0001638 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0002011 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0002027 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0002090 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0002140 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0002617 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0002726 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0002923 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0003261 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0003493 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0004386 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0005318 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0005366 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0005401 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0006562 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0006689 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0009830 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0010702 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0011274 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0020101 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0020114 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0020180 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0025143 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0025188 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0030880 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0031363 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0031692 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0031693 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0032166 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0032170 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0032230 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0100778 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48435 Postinfectious vasculitis HP:0100796 ORPHA:48435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome HP:0000564 ORPHA:139450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome HP:0000612 ORPHA:139450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome HP:0000613 ORPHA:139450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome HP:0008551 ORPHA:139450 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0003477 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0004934 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0005930 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0006482 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0006483 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0008043 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0008197 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0008936 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0011451 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0011471 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0011527 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0012211 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0012804 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0025300 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0025403 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000568 ORPHA:191 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000573 ORPHA:191 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001105 ORPHA:191 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001344 ORPHA:191 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0006349 ORPHA:191 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000253 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000408 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000580 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000708 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001268 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001272 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001510 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0003510 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0004326 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0007266 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0007703 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0008897 ORPHA:191 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000490 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000518 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000529 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000556 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000670 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000762 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000992 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001250 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001251 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001263 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001288 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001757 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002020 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002059 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002135 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002171 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002213 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002461 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002514 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002545 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002803 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0003202 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0003474 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0003758 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0005781 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0006297 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0007108 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0007141 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0007240 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0007346 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0008872 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0009830 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0011359 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0012372 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0100543 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0100678 ORPHA:191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000011 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000020 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000028 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000083 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000089 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000093 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000100 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000122 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000444 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000481 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000486 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000512 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000519 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000522 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000540 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000543 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000546 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000585 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000613 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000616 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000633 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000639 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000648 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000680 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000689 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000819 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000822 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000823 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0000970 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001097 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001249 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001257 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001265 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001276 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001284 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001347 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001612 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0001744 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002080 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002149 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002240 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002345 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002355 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002376 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002509 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002540 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002621 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002650 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002684 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002808 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:191 Cockayne syndrome HP:0002910 ORPHA:191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000219 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000316 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000494 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001156 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001256 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001388 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001627 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0009778 ORPHA:401935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000028 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000086 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000319 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000343 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000426 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000431 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0000664 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001629 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001631 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0001660 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0002566 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0003083 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0003196 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0004935 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0005852 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401935 14q24.1q24.3 microdeletion syndrome HP:0011800 ORPHA:401935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000028 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000164 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000194 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000212 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000252 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000294 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000322 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000327 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000347 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000384 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000407 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000426 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000486 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000492 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000494 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000499 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000527 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000545 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000568 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000574 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000612 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000639 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000648 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000767 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0000823 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001000 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001135 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001166 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001182 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001249 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001250 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001252 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001263 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001511 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001513 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001531 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001558 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001572 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001612 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001629 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001634 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001852 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0001875 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0002167 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0002650 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0002705 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0002808 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0002857 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0002967 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0003272 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0004209 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0004283 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0004322 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0005692 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0006101 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0007703 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0008872 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0009804 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0009906 ORPHA:193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0010295 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0010669 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0011308 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0100874 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:193 Cohen syndrome HP:0200046 ORPHA:193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000044 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000347 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000482 ORPHA:48431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000486 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000518 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000527 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000568 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000639 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000763 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000939 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001251 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001256 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001263 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001310 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001511 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0001943 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0002080 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0002119 ORPHA:48431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0002120 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0002650 ORPHA:48431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0002808 ORPHA:48431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0003134 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0003319 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0003401 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0004322 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0007002 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0007256 ORPHA:48431 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0008942 ORPHA:48431 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0010620 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0100490 ORPHA:48431 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:190 Coats disease HP:0000486 ORPHA:190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:190 Coats disease HP:0000501 ORPHA:190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:190 Coats disease HP:0000518 ORPHA:190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:190 Coats disease HP:0000541 ORPHA:190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:190 Coats disease HP:0000593 ORPHA:190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:190 Coats disease HP:0001103 ORPHA:190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:190 Coats disease HP:0008046 ORPHA:190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:190 Coats disease HP:0008053 ORPHA:190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1203 Duodenal atresia HP:0001561 ORPHA:1203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1203 Duodenal atresia HP:0001732 ORPHA:1203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1203 Duodenal atresia HP:0001734 ORPHA:1203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1203 Duodenal atresia HP:0002247 ORPHA:1203 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1203 Duodenal atresia HP:0004414 ORPHA:1203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1202 Larynx atresia HP:0001601 ORPHA:1202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1202 Larynx atresia HP:0001608 ORPHA:1202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1202 Larynx atresia HP:0002093 ORPHA:1202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1202 Larynx atresia HP:0002205 ORPHA:1202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1202 Larynx atresia HP:0030680 ORPHA:1202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1202 Larynx atresia HP:0004322 ORPHA:1202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000286 ORPHA:2536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000311 ORPHA:2536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000482 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000501 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000505 ORPHA:2536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000929 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000982 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0002688 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0012368 ORPHA:2536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome HP:0100789 ORPHA:2536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1201 Atresia of small intestine HP:0004322 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1201 Atresia of small intestine HP:0005235 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1201 Atresia of small intestine HP:0011968 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1201 Atresia of small intestine HP:0025015 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1201 Atresia of small intestine HP:0005245 ORPHA:1201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1201 Atresia of small intestine HP:0001508 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1201 Atresia of small intestine HP:0001511 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1201 Atresia of small intestine HP:0002013 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1201 Atresia of small intestine HP:0002566 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1201 Atresia of small intestine HP:0003270 ORPHA:1201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0000174 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0000316 ORPHA:1200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0000426 ORPHA:1200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0000431 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0000478 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0000504 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0001671 ORPHA:1200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0003196 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0004322 ORPHA:1200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0004502 ORPHA:1200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1200 Burn-McKeown syndrome HP:0012745 ORPHA:1200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001508 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001510 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001743 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002020 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002036 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002818 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0009778 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0011968 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0100633 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0100841 ORPHA:2538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000003 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000110 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0005916 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001167 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001357 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002007 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0003063 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0005988 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0011220 ORPHA:2538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000085 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000104 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000143 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000528 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0000568 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001274 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001331 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001631 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0001660 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002023 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002032 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002101 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002139 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002240 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002536 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002566 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0002575 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0003042 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0004050 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0004736 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0004871 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0006660 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0008678 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0009827 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0009829 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0012165 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0025023 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0030680 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2538 Microgastria-limb reduction defect syndrome HP:0100257 ORPHA:2538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001260 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001269 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001290 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001300 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001332 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0001337 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0002067 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0006801 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0006956 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0011331 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0012444 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0012768 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0100556 ORPHA:306669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0000716 ORPHA:306669 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0002355 ORPHA:306669 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0002650 ORPHA:306669 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome HP:0100308 ORPHA:306669 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001999 ORPHA:488642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0002141 ORPHA:488642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0010864 ORPHA:488642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0011344 ORPHA:488642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0011451 ORPHA:488642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000365 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001156 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001250 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001257 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001344 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0002465 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0002540 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0004322 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0004692 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0008947 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0011968 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0030084 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0030962 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0100022 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0100704 ORPHA:488642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000081 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000175 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000308 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000316 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000510 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000519 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000582 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000592 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0000768 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001182 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001251 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001276 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001388 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001511 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001583 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001734 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001773 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001800 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001838 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0001845 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0002714 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0002751 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0003273 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0004209 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0006380 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0006979 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0007598 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0008513 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0008780 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0010296 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0020045 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder HP:0200055 ORPHA:488642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1209 Tricuspid atresia HP:0011662 ORPHA:1209 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1209 Tricuspid atresia HP:0000961 ORPHA:1209 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1209 Tricuspid atresia HP:0001629 ORPHA:1209 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1209 Tricuspid atresia HP:0001631 ORPHA:1209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1209 Tricuspid atresia HP:0001655 ORPHA:1209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1209 Tricuspid atresia HP:0001669 ORPHA:1209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1209 Tricuspid atresia HP:0004762 ORPHA:1209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1209 Tricuspid atresia HP:0005301 ORPHA:1209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1209 Tricuspid atresia HP:0001680 ORPHA:1209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1209 Tricuspid atresia HP:0004935 ORPHA:1209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome HP:0001622 ORPHA:1208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome HP:0001643 ORPHA:1208 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome HP:0001702 ORPHA:1208 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome HP:0004935 ORPHA:1208 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome HP:0009800 ORPHA:1208 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0003764 ORPHA:35125 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0000953 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0001010 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0002176 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0003416 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0006827 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0007199 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0012531 ORPHA:35125 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0000483 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0000505 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0000750 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0001263 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0001276 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0001284 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0002944 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0003487 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0009077 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0010302 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0012032 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0012443 ORPHA:35125 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0000113 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0000938 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0004942 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0001999 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0002859 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35125 Epidermal nevus syndrome HP:0100512 ORPHA:35125 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35122 Congenital sucrase-isomaltase deficiency HP:0002014 ORPHA:35122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35122 Congenital sucrase-isomaltase deficiency HP:0002013 ORPHA:35122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35122 Congenital sucrase-isomaltase deficiency HP:0003270 ORPHA:35122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35122 Congenital sucrase-isomaltase deficiency HP:0011848 ORPHA:35122 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000174 ORPHA:2533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000232 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000252 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000286 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000324 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000347 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000369 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000378 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000384 ORPHA:2533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000407 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000411 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0001249 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0002057 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0002167 ORPHA:2533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0004322 ORPHA:2533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000708 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001260 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002015 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002059 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002071 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002376 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0007256 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0030890 ORPHA:500180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000252 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001250 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001257 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001263 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001332 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0001344 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002066 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002187 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002353 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002381 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002540 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0010864 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000718 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000729 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000752 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000768 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002072 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002079 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002119 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002509 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0002808 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0007328 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0008947 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0011471 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0100710 ORPHA:500180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0000653 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0000972 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0000982 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0001596 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0008070 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0008404 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0045075 ORPHA:189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0000365 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0000953 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0001072 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0001792 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0001798 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0002209 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0002213 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0002215 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0002221 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0002223 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0002225 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0002555 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0004528 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0004779 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0005599 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0008383 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0011911 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0031288 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0045059 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189 Hidrotic ectodermal dysplasia HP:0100759 ORPHA:189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0001974 ORPHA:188 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0010741 ORPHA:188 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0001733 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0001824 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0002014 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0002027 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0002615 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0003326 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0012378 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0025142 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0031417 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0100598 ORPHA:188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0000083 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0000091 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0001701 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0002202 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0004936 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0006543 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0006775 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0011675 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0012735 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0012819 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:188 Systemic capillary leak syndrome HP:0100520 ORPHA:188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001627 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001629 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001631 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001635 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001651 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001680 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0002088 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0002089 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0004971 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0005345 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0030680 ORPHA:185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001636 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001643 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001719 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001750 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0002092 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0002098 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0002205 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0004383 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0010772 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0010773 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0011560 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0012382 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0012735 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0025495 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0040044 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0040045 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0100632 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0100730 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0100790 ORPHA:185 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0000119 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0000925 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0001660 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0002107 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0011638 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0011662 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0011670 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0011671 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:185 Scimitar syndrome HP:0012722 ORPHA:185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0000164 ORPHA:184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0000277 ORPHA:184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0000293 ORPHA:184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0000505 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0000520 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0000529 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0000648 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0000677 ORPHA:184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0001608 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0002781 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0002870 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0006482 ORPHA:184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0008872 ORPHA:184 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0012062 ORPHA:184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:184 Cherubism HP:0012802 ORPHA:184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000161 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000204 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000277 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000309 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000326 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401942 Familial median cleft of the upper and lower lips HP:0000699 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401942 Familial median cleft of the upper and lower lips HP:0010281 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401942 Familial median cleft of the upper and lower lips HP:0012292 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401942 Familial median cleft of the upper and lower lips HP:0040079 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401942 Familial median cleft of the upper and lower lips HP:3000010 ORPHA:401942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0000952 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0000989 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0001278 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0001395 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0001399 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0001402 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0001409 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0002841 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0002960 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0003119 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0003155 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0003493 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0003496 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0011040 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0012203 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0000939 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0001262 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0001541 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0002360 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0002608 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0003073 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0003261 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0003270 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0012115 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0012378 ORPHA:186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0004386 ORPHA:186 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0000953 ORPHA:186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0001394 ORPHA:186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0002613 ORPHA:186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0002908 ORPHA:186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0011971 ORPHA:186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:186 Primary biliary cholangitis HP:0000820 ORPHA:186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000175 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000176 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000193 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000252 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000278 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000347 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001249 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001257 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001274 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001276 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001331 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001508 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001510 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001511 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0002063 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0003510 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0003552 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0011968 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000160 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000363 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000366 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000368 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000369 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000486 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000639 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001250 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0002119 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0002133 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0003196 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0005280 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0009748 ORPHA:35107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000062 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000104 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000238 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000256 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000286 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0000494 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001302 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001339 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001643 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001744 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001840 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0001883 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0002007 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0002126 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0002269 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0002536 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0002566 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0002983 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0004334 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0007227 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0008065 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0008678 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0010772 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0011001 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0011002 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35107 Desmosterolosis HP:0011220 ORPHA:35107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000232 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000457 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000684 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000691 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000822 ORPHA:181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000830 ORPHA:181 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0000966 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0008070 ORPHA:181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181 X-linked hypohidrotic ectodermal dysplasia HP:0002007 ORPHA:181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] 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ORPHA:180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:180 Choroideremia HP:0000545 ORPHA:180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:180 Choroideremia HP:0000662 ORPHA:180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:180 Choroideremia HP:0007703 ORPHA:180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000083 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000093 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000246 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000790 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000822 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000965 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000979 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0000988 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001025 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001053 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001063 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001288 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001369 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001482 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001635 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001639 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001658 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001697 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001824 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001880 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001945 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0001970 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002015 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002017 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002020 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002024 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002027 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002093 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002099 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002103 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002105 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002113 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002326 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002633 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002829 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0002960 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0003326 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0004374 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0004936 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0005214 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0006535 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0006824 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0007009 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0009830 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0012378 ORPHA:183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0012649 ORPHA:183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0012735 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0012819 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0100582 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0100584 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0100614 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0100820 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:183 Eosinophilic granulomatosis with polyangiitis HP:0200034 ORPHA:183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0001297 ORPHA:401945 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0000822 ORPHA:401945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0011834 ORPHA:401945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0100659 ORPHA:401945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0000965 ORPHA:401945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0001873 ORPHA:401945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0030402 ORPHA:401945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401945 Moyamoya disease with early-onset achalasia HP:0030880 ORPHA:401945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0000989 ORPHA:182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0002814 ORPHA:182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0000962 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0000969 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0001004 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0001482 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0001760 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0003550 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0012500 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0025474 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0025475 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0025527 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0025528 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0040009 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0045059 ORPHA:182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0000987 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0001053 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0002718 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0002817 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0011276 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0031842 ORPHA:182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0000163 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0000491 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0000656 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0001097 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0002088 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0002721 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0002797 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0002860 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0007606 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0011334 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0031013 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:182 Chromomycosis HP:0500043 ORPHA:182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001250 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001266 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001320 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001321 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002123 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002360 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0006850 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0011344 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0011968 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0031162 ORPHA:2524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0000253 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0000340 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001270 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002020 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002033 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002104 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002268 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002365 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002719 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0007663 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0012469 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0200136 ORPHA:2524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001257 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002079 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002119 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002536 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0003487 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0003558 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0006895 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0006989 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0007598 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0009062 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0011171 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0011471 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0012765 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0025190 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0100704 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0200049 ORPHA:2524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0002350 ORPHA:2524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2524 Pontocerebellar hypoplasia type 2 HP:0001999 ORPHA:2524 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0001249 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0001263 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0001270 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0002061 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0002352 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0010576 ORPHA:139444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0000252 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0000407 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0000486 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0001344 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0002169 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0003487 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0004302 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0009062 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0007731 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0007973 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0009891 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0010310 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0012471 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0012490 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0040189 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0100658 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0100758 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0200042 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000252 ORPHA:2526 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000478 ORPHA:2526 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000504 ORPHA:2526 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001004 ORPHA:2526 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000545 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000969 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001249 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001252 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001263 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001328 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001595 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001820 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0007703 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0008388 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0100644 ORPHA:2526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000286 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000293 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000307 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000340 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000343 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000411 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000431 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000445 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000463 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000488 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000492 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000499 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000501 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000508 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000518 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000528 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000541 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000556 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000568 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000572 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000582 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000587 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000614 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000618 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000646 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000648 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000958 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001055 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001072 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001250 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001257 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001276 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001482 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001631 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0001909 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0002063 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0002133 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0002202 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0002665 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0003510 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0003552 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0004936 ORPHA:2526 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000135 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000160 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000218 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000248 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000252 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000278 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000286 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000482 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000518 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000568 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000582 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0001510 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0002191 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0004322 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0010864 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0003458 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0003557 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0003707 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0001761 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0008954 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0009005 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0009063 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0030089 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0040081 ORPHA:488650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0002312 ORPHA:488650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0003124 ORPHA:488650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0003760 ORPHA:488650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0008962 ORPHA:488650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0000467 ORPHA:488650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0001962 ORPHA:488650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0003326 ORPHA:488650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0001284 ORPHA:488650 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:488650 Distal myopathy, Tateyama type HP:0002936 ORPHA:488650 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000175 ORPHA:2521 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000176 ORPHA:2521 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000193 ORPHA:2521 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000252 ORPHA:2521 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000278 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000303 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000347 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0001249 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0001263 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0001328 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0007703 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0100490 ORPHA:2521 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000047 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000069 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000252 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000340 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000347 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000369 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000444 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000470 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000508 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000520 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000767 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000772 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000889 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0001256 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0001347 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0002167 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0002176 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0002808 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0002949 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0003272 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0003307 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0004312 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0004322 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0006482 ORPHA:2522 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0010620 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0012371 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0000252 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0001257 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0001360 ORPHA:2523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0001939 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0002120 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0100543 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401953 Episodic ataxia with slurred speech HP:0001324 ORPHA:401953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401953 Episodic ataxia with slurred speech HP:0001350 ORPHA:401953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401953 Episodic ataxia with slurred speech HP:0002172 ORPHA:401953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:401953 Episodic ataxia with slurred speech HP:0000639 ORPHA:401953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401953 Episodic ataxia with slurred speech HP:0001260 ORPHA:401953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401953 Episodic ataxia with slurred speech HP:0001337 ORPHA:401953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401953 Episodic ataxia with slurred speech HP:0002066 ORPHA:401953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401953 Episodic ataxia with slurred speech HP:0012547 ORPHA:401953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:401953 Episodic ataxia with slurred speech HP:0002076 ORPHA:401953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:401953 Episodic ataxia with slurred speech HP:0002411 ORPHA:401953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000028 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000218 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000252 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000407 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000482 ORPHA:139471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000518 ORPHA:139471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000528 ORPHA:139471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000545 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000556 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000567 ORPHA:139471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000568 ORPHA:139471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000612 ORPHA:139471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000639 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000647 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000864 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0001250 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0001263 ORPHA:139471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0001274 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0001830 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0002164 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0006101 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0007068 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0009623 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0001260 ORPHA:458803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0001317 ORPHA:458803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002317 ORPHA:458803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0012759 ORPHA:458803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000012 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000716 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0001152 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0001272 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002015 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002064 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002066 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0003487 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0006855 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0006938 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0007979 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0031166 ORPHA:458803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000020 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000486 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000571 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000639 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000651 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0000802 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002321 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002322 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002346 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002511 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0002650 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0003765 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0007351 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0007366 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0012708 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:458803 Spinocerebellar ataxia type 42 HP:0030890 ORPHA:458803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001249 ORPHA:500150 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001263 ORPHA:500150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001999 ORPHA:500150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0012443 ORPHA:500150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000119 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000486 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000540 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000729 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001382 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001511 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001531 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002079 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002119 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002197 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002538 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0003508 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0008872 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0008947 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0010864 ORPHA:500150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000085 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000122 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000175 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000193 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000233 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000286 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000293 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000319 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000322 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000324 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000327 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000341 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000365 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000369 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000411 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000431 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000490 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000494 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000529 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000545 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000565 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000577 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000592 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000609 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000639 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000648 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000891 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0000902 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001027 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001166 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001257 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001627 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001631 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002007 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002015 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002020 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002028 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002097 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002121 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002126 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002140 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002212 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002283 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002308 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002326 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002376 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002500 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002578 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002579 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002714 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002719 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002751 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002878 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002937 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0002938 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0003100 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0003196 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0004315 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0004433 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0004442 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0004482 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0005280 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0005639 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0006956 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0006970 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0006989 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0007100 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0007933 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0008765 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0009777 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0009879 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0010485 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011220 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011330 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011467 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011471 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011648 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0011819 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0012582 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0025116 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0030707 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0045075 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0100307 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0100702 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0100704 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0430021 ORPHA:500150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0000053 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0000233 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0000252 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0000272 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0045075 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0000653 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0000682 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0000750 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0001249 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0001250 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0001263 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0004322 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0004411 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0006297 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0009928 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139474 17q11.2 microduplication syndrome HP:0011803 ORPHA:139474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0000252 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0000347 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0001010 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0007730 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0009882 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0010185 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0001263 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2514 Autosomal dominant primary microcephaly HP:0000252 ORPHA:2514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2514 Autosomal dominant primary microcephaly HP:0000411 ORPHA:2514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2514 Autosomal dominant primary microcephaly HP:0000666 ORPHA:2514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2514 Autosomal dominant primary microcephaly HP:0001137 ORPHA:2514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2514 Autosomal dominant primary microcephaly HP:0004322 ORPHA:2514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2514 Autosomal dominant primary microcephaly HP:0009804 ORPHA:2514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0000252 ORPHA:2515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001249 ORPHA:2515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001644 ORPHA:2515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0100543 ORPHA:2515 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0000356 ORPHA:2515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001852 ORPHA:2515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0004209 ORPHA:2515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0004322 ORPHA:2515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0000340 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001250 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001511 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0001629 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0002119 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0002705 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0007703 ORPHA:2515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000252 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001511 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001629 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0002101 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0100543 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000104 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000175 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000347 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000383 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000430 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000465 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000470 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000581 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001252 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001387 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001660 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0001679 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0002705 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0004467 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0006610 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0007598 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0008678 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0009882 ORPHA:2516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001249 ORPHA:500159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001263 ORPHA:500159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000252 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000708 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000733 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001250 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001270 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001344 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001627 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002465 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0008872 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0008947 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0011968 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000028 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000047 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000194 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000256 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000363 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000403 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000407 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000426 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000463 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000819 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000964 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001321 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001357 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001388 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001537 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001629 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001643 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001647 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001655 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001999 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002079 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002119 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002126 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002280 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002365 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002518 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002553 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002650 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0002786 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0003086 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0006532 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0007033 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0008527 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0009237 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0009765 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0030515 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0200007 ORPHA:500159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000252 ORPHA:2518 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000307 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000340 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000411 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000431 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000463 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000486 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000499 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000505 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000639 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000648 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0001249 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0001250 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0001276 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0001511 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0002120 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0002269 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0002650 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0004322 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0004422 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0007360 ORPHA:2518 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0007703 ORPHA:2518 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000054 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000851 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001249 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001250 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001263 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001631 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0006934 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0008947 ORPHA:2519 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000028 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000252 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000286 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000565 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000766 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000772 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000773 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000885 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001162 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001629 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0001643 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0002079 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0002092 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0002098 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0002558 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0005989 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000028 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000060 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000064 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000126 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000218 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000252 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000322 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000347 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000368 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000400 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000431 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000463 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000480 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000482 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000518 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000568 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000648 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000649 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0000823 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0001250 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0001252 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0001257 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0001263 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0001302 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0001317 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0001320 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0001339 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0001387 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0001511 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0002120 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0002230 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0002650 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0002808 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0003196 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0004322 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0007370 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0007703 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0008736 ORPHA:2510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0009830 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0010864 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0100542 ORPHA:2510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2510 Micro syndrome HP:0100704 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000239 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000248 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000252 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000270 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000272 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000275 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000276 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000303 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000364 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000446 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000486 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000508 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000598 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000601 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000767 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001156 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0005916 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001167 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001172 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001249 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001263 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0001328 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0002650 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0003019 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0003172 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0003510 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0004279 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0005469 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0007598 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0008818 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0009721 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0009891 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0010668 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0100333 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0003307 ORPHA:2511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0010579 ORPHA:2511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0004322 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0011020 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0012758 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000278 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000286 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000405 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000407 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000431 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000677 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000691 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0002300 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0002650 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0002750 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0002901 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0002942 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0003090 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0003307 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0005280 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0006297 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0006989 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0007042 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0009237 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0009928 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0010663 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0010761 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0030084 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0100255 ORPHA:557003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000121 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000164 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000280 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000365 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000501 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000519 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0000599 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0001297 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0001328 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0001999 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557003 Oculoskeletodental syndrome HP:0003072 ORPHA:557003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0000219 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0000252 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0000340 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0000582 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0001263 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0001510 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0002282 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0004322 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0010864 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0000076 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0000122 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0001274 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0001302 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0001347 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0002119 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0003103 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0007333 ORPHA:2512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0001256 ORPHA:500166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0001999 ORPHA:500166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0410263 ORPHA:500166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000365 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000729 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000924 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0001382 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0002119 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0032059 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0040195 ORPHA:500166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000164 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000722 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0000736 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0001250 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0001808 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0002213 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0002500 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0002750 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0006989 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation HP:0030084 ORPHA:500166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0000280 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0000325 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0000414 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0000448 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0000581 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0001249 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0008947 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type HP:0009928 ORPHA:293707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0002480 ORPHA:529808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0003265 ORPHA:529808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0006579 ORPHA:529808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0006958 ORPHA:529808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0000407 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0000502 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0001249 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0001250 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0001276 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0001343 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0001878 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0001945 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0002871 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0003073 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0011968 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0012696 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0032106 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0100021 ORPHA:529808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0003228 ORPHA:529808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0025518 ORPHA:529808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529808 Chronic bilirubin encephalopathy HP:0040187 ORPHA:529808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0000405 ORPHA:2502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001256 ORPHA:2502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0100255 ORPHA:2502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0000403 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001169 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001388 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001769 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001773 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0001964 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0002868 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0002970 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0002979 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0003015 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0003016 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0003026 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0003085 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0004279 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0006009 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0006413 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0006417 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0008110 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0008873 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0009760 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0100255 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0100864 ORPHA:2502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0000486 ORPHA:2502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0000540 ORPHA:2502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0000104 ORPHA:139466 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0001510 ORPHA:139466 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0001562 ORPHA:139466 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0002089 ORPHA:139466 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0012245 ORPHA:139466 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0000036 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0000047 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0000202 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0000776 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0000834 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0001629 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0001642 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0004794 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0005343 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139466 SERKAL syndrome HP:0030680 ORPHA:139466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000023 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000028 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000045 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000046 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000047 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000175 ORPHA:2505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000252 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000271 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000286 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000343 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000347 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000368 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000482 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000488 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000568 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000969 ORPHA:2505 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0001072 ORPHA:2505 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0001249 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0001263 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0001537 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0001635 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0002230 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0003011 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0004322 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0006768 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0007400 ORPHA:2505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0007522 ORPHA:2505 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0008572 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0100559 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0100560 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95626 Acquired central diabetes insipidus HP:0000873 ORPHA:95626 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95626 Acquired central diabetes insipidus HP:0001824 ORPHA:95626 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95626 Acquired central diabetes insipidus HP:0001959 ORPHA:95626 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95626 Acquired central diabetes insipidus HP:0100515 ORPHA:95626 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000023 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000047 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000110 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000252 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000280 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000411 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000486 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000639 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0001250 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0001257 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0001274 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0002120 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0002230 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0002445 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0002650 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0003272 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0004322 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0008678 ORPHA:2508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0010720 ORPHA:2508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0010864 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0011344 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0005987 ORPHA:276399 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0002671 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0005584 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0100528 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0100615 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0100617 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0100619 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0200063 ORPHA:276399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0002890 ORPHA:276399 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0006779 ORPHA:276399 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0007129 ORPHA:276399 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0030071 ORPHA:276399 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0030434 ORPHA:276399 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276399 Familial multinodular goiter HP:0000836 ORPHA:276399 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0000347 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0000444 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0000951 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0000963 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0001249 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0001773 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0002213 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0002650 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0002652 ORPHA:2500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0004322 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0005692 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0007392 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0007400 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0007495 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0008065 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0100578 ORPHA:2500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0100585 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0200042 ORPHA:2500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2500 Acrogeria HP:0200055 ORPHA:2500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0000164 ORPHA:2501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0000670 ORPHA:2501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0000944 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0001288 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0001385 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0002650 ORPHA:2501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0002750 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0002970 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0003307 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0003498 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0004349 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0005871 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0005930 ORPHA:2501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0006385 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0006409 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0006487 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type HP:0100255 ORPHA:2501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0011923 ORPHA:2609 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0000114 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0000407 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0000486 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0000508 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0000543 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0000639 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0000817 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001138 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001251 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001252 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001254 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001263 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001298 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001324 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001508 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001511 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001639 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0001943 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0002013 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0002093 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0002240 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0002352 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0002415 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0002421 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0002490 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0003128 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0003542 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0003737 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0007704 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0008316 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0012748 ORPHA:2609 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0000252 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0000618 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0000819 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0011968 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2609 Isolated complex I deficiency HP:0025116 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0000952 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001399 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001518 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001622 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001744 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0002027 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0002240 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0002910 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0003077 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0003155 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0004359 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0006560 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0011113 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0011473 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0030948 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0032245 ORPHA:567983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001081 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001394 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001395 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001397 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0001409 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567983 Parenteral nutrition-associated cholestasis HP:0002908 ORPHA:567983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0000269 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0000324 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0000478 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0000504 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0000506 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0000568 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0000612 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0000995 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0001048 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0001249 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0001250 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0001252 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0001305 ORPHA:2612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0001315 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0001347 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0001357 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0001510 ORPHA:2612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0001596 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0002007 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0002119 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0002132 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0002353 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0002514 ORPHA:2612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0002816 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0003422 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0004422 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0007360 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0007370 ORPHA:2612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0007400 ORPHA:2612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0009720 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2612 Linear nevus sebaceus syndrome HP:0100555 ORPHA:2612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2613 Nail-patella-like renal disease HP:0000083 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2613 Nail-patella-like renal disease HP:0000093 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2613 Nail-patella-like renal disease HP:0000822 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2613 Nail-patella-like renal disease HP:0002907 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2613 Nail-patella-like renal disease HP:0004322 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2613 Nail-patella-like renal disease HP:0100820 ORPHA:2613 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0025186 ORPHA:91412 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0000486 ORPHA:91412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0000646 ORPHA:91412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0007687 ORPHA:91412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0010824 ORPHA:91412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0025584 ORPHA:91412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0008897 ORPHA:91412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0012758 ORPHA:91412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0012803 ORPHA:91412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0020041 ORPHA:91412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0031747 ORPHA:91412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0000078 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0000175 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0000453 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0000589 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0000787 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0001627 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0004408 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0025514 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0031703 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91412 Marcus-Gunn syndrome HP:0410030 ORPHA:91412 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0001597 ORPHA:2614 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0011297 ORPHA:2614 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0000077 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0001369 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0001371 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0001763 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0002019 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0002815 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0002987 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0003199 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0003418 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0008034 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0008110 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0009780 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0009811 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0012718 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0100798 ORPHA:2614 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0000083 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0000093 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0000100 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0000123 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0000348 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0000478 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0000767 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0000790 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0000939 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0001250 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0001377 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0001762 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0001771 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0001772 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0001884 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0002650 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0002823 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0002938 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0002967 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0002992 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0002999 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0003045 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0003065 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0003083 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0003302 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0003304 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0003774 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0004209 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0004349 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0004722 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0005190 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0006297 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0006380 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0006394 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0006443 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0007328 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0007906 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0008007 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0008124 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0009697 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0009760 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0009781 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0009890 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0010829 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0010886 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0012108 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0030839 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0031006 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0031910 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0030051 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0045086 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0100797 ORPHA:2614 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0002597 ORPHA:2614 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0005290 ORPHA:2614 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2614 Nail-patella syndrome HP:0006702 ORPHA:2614 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91414 Pilomatrixoma HP:0030434 ORPHA:91414 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:91414 Pilomatrixoma HP:0001482 ORPHA:91414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91414 Pilomatrixoma HP:0012288 ORPHA:91414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91414 Pilomatrixoma HP:0010766 ORPHA:91414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91414 Pilomatrixoma HP:0000989 ORPHA:91414 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91414 Pilomatrixoma HP:0033559 ORPHA:91414 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000047 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000144 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000232 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000268 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000307 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000325 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000337 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000343 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000411 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000414 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000463 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000470 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000574 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000682 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000684 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000883 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000888 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0000944 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0001374 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0001511 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0001838 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0002007 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0002650 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0002750 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0002808 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0002983 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0003022 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0003100 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0003173 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0003175 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0003307 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0003691 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0004209 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0004322 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0004570 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0005692 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0008839 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0009811 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0010306 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0011800 ORPHA:2616 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0100625 ORPHA:2616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2616 3M syndrome HP:0100659 ORPHA:2616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000028 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000174 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000252 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000347 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000368 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000444 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000508 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000670 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000958 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000975 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0001249 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0001276 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0001347 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002162 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002216 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002353 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002650 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002808 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0003422 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0003510 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0004349 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0004399 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0006610 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0007477 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0007495 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0009721 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0010807 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0011362 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0100578 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0002293 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91416 Isolated congenital alacrima HP:0000522 ORPHA:91416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91416 Isolated congenital alacrima HP:0000491 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91416 Isolated congenital alacrima HP:0000508 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91416 Isolated congenital alacrima HP:0000509 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91416 Isolated congenital alacrima HP:0000613 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91416 Isolated congenital alacrima HP:0007732 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91416 Isolated congenital alacrima HP:0009743 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91416 Isolated congenital alacrima HP:0200020 ORPHA:91416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91416 Isolated congenital alacrima HP:0007820 ORPHA:91416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91416 Isolated congenital alacrima HP:0002571 ORPHA:91416 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0000926 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0000938 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0001831 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0002654 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0002829 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003028 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003368 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003510 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0005086 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0005872 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0008843 ORPHA:2619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0001376 ORPHA:2619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003019 ORPHA:2619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003940 ORPHA:2619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0009742 ORPHA:2619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0032153 ORPHA:2619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0003179 ORPHA:2619 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0002960 ORPHA:2619 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2619 Brachydactylous dwarfism, Mseleni type HP:0012649 ORPHA:2619 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0001477 ORPHA:91411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0007687 ORPHA:91411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0007911 ORPHA:91411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0007946 ORPHA:91411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000483 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000486 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000539 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000545 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000646 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0007663 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0009058 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0012803 ORPHA:91411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000506 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000527 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000537 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000540 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000602 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000957 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0000970 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0001250 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0001491 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0001999 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0002003 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0005487 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0006837 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0007188 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0007544 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0007728 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0008209 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91411 Congenital ptosis HP:0012758 ORPHA:91411 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0000077 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0000256 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0000481 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0000486 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0000518 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0000612 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0000929 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0000962 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0001250 ORPHA:2611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0001268 ORPHA:2611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0001305 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0001770 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0001883 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0002119 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0002650 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0002652 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0002816 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0004349 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0007370 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0008060 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0009592 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0010049 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0100006 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0000488 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0002148 ORPHA:2611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0002209 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2611 Linear verrucous nevus syndrome HP:0012500 ORPHA:2611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0009073 ORPHA:254361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001270 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002359 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003202 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003236 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003325 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003391 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003458 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003551 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003749 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002505 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0040287 ORPHA:254361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001263 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001284 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001488 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001611 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001771 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002015 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002194 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0003324 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0008981 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0009053 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0025435 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0040266 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0430025 ORPHA:254361 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0001626 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002086 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002206 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0002875 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0004631 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0011712 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0011950 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0100750 ORPHA:254361 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0000951 ORPHA:254361 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17 HP:0030208 ORPHA:254361 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000581 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0001181 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0001250 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0002521 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0008947 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0010864 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0011343 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0011451 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0100587 ORPHA:293725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000185 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000278 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000293 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000311 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000319 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000322 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000358 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000391 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000395 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000414 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000437 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000448 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000807 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0001562 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0002190 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0002339 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0005274 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0006191 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0006956 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0006970 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0009928 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0010761 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type HP:0011251 ORPHA:293725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0001369 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0001387 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0002355 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0002829 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0005187 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0005194 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0010219 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0010630 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0010741 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0025238 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0040034 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0040188 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0100039 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0100662 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0100925 ORPHA:564003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0010672 ORPHA:564003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0010885 ORPHA:564003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0008089 ORPHA:564003 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:564003 Osteochondrosis of the metatarsal bone HP:0040035 ORPHA:564003 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000021 ORPHA:2604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000072 ORPHA:2604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000076 ORPHA:2604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000175 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000252 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000311 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000337 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000347 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000368 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000426 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000463 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000774 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0000843 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0001166 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0001387 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0001537 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0001798 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0002251 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0030680 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0003270 ORPHA:2604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0003363 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0010318 ORPHA:2604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2604 Familial visceral myopathy HP:0100490 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0000028 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0000047 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0000485 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0000492 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0000505 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0001249 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0001257 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0001263 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0005517 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0008619 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2608 N syndrome HP:0012372 ORPHA:2608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0000252 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0000717 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0000718 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0001249 ORPHA:254351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0001250 ORPHA:254351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0001328 ORPHA:254351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0001631 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0001643 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0002132 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0002308 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0007018 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0007302 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0001249 ORPHA:313892 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0001270 ORPHA:313892 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000750 ORPHA:313892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0430028 ORPHA:313892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000189 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000486 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000545 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000577 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000648 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000678 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000739 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000768 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0001252 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002007 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002711 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002938 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002948 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0004691 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0005659 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0012443 ORPHA:313892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000078 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000718 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0000733 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0001250 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0001653 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002020 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0002650 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0003316 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0007018 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0011968 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0100716 ORPHA:313892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0002979 ORPHA:156728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0004322 ORPHA:156728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0009826 ORPHA:156728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0001377 ORPHA:156728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0002515 ORPHA:156728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0002938 ORPHA:156728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0008873 ORPHA:156728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0000767 ORPHA:156728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0003037 ORPHA:156728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0005257 ORPHA:156728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0012368 ORPHA:156728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0010831 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002169 ORPHA:319199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0007350 ORPHA:319199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000750 ORPHA:319199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000768 ORPHA:319199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002808 ORPHA:319199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0005692 ORPHA:319199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0200049 ORPHA:319199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000365 ORPHA:319199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002451 ORPHA:319199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002495 ORPHA:319199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000252 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000372 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0001508 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002119 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0002539 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0000704 ORPHA:75392 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0001034 ORPHA:75392 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0001075 ORPHA:75392 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0004322 ORPHA:75392 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0000212 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0000691 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0000974 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0005692 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0006308 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0006349 ORPHA:75392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0000347 ORPHA:75392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75392 Periodontal Ehlers-Danlos syndrome HP:0006323 ORPHA:75392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000347 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000388 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000926 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0002750 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000938 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000939 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0100255 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0000975 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0001288 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0009926 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0004322 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0001595 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0001812 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0002355 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0002656 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0002815 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0003025 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0003045 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0003084 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0003886 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0006482 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0007642 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0008110 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0008124 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0008404 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0008394 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0012542 ORPHA:319195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319195 Chondroectodermal dysplasia with night blindness HP:0030055 ORPHA:319195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002126 ORPHA:300573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002539 ORPHA:300573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0100543 ORPHA:300573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0000252 ORPHA:300573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001249 ORPHA:300573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001263 ORPHA:300573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001269 ORPHA:300573 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0000486 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001250 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001272 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001273 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001302 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002079 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002282 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002339 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002363 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0002389 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0006956 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0007018 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0012650 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0007301 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0007359 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0008947 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0012110 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0012377 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0025102 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0025160 ORPHA:300573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001274 ORPHA:300573 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0001339 ORPHA:300573 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0010636 ORPHA:300573 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0000764 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0002143 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0002936 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0004359 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0007199 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0009053 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0030177 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0031064 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0040078 ORPHA:139399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0000849 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0001000 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0001257 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0001347 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0002064 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0002213 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0002607 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0002839 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0003487 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0006827 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0007006 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0007266 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0007372 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0008167 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0008969 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0009830 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0010284 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0011749 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0012378 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0030014 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0031845 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0040307 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0100291 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0100639 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0100816 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0410263 ORPHA:139399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0000012 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0000016 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0000020 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0000708 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0000846 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0001260 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0002292 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0002354 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0003418 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0004302 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0008207 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0012534 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0100502 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139399 Adrenomyeloneuropathy HP:0100543 ORPHA:139399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0003089 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0007034 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0007663 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0010527 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0010794 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0011448 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0030222 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0031993 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0040288 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0045084 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000618 ORPHA:139396 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002540 ORPHA:139396 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0031358 ORPHA:139396 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002518 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0003477 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0004302 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0004359 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0007141 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0012501 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000026 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000317 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000365 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000657 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000736 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000752 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001250 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001251 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001260 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001269 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001285 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001288 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001289 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001310 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002015 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002061 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002167 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002186 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002354 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002355 ORPHA:139396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001268 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002196 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0007162 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0007305 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0008163 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0008167 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0008207 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0009830 ORPHA:139396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0000708 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0001328 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002143 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0002283 ORPHA:139396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001250 ORPHA:300570 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001263 ORPHA:300570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000486 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000496 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000565 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000639 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001249 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001257 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001321 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001338 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001339 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001488 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002079 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002126 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002194 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002334 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002365 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002465 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002474 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002497 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002540 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0007260 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0008872 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0008897 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0009062 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0009879 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0010862 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0011344 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0025336 ORPHA:300570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000218 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000256 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000286 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000347 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000369 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000407 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000473 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000494 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000570 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000572 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000609 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000657 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000733 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000735 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000736 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001260 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001264 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001320 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001332 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001357 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001388 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001491 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0000712 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001773 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001840 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002134 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002343 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002510 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002751 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002857 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002943 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0002967 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0005216 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0005469 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0006956 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0007048 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0008619 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0010663 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0011451 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0012332 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0012434 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0012697 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0025101 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0030302 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0030534 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0030903 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0007359 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0040326 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0100785 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0200055 ORPHA:300570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000059 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000160 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000293 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000368 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000407 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000486 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000494 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000527 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000556 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000574 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000637 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000648 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000687 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000691 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001182 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001488 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001511 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001602 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001686 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001799 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0001822 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0003186 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0008757 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0009183 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0009537 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0009600 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0010066 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0010193 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0010864 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0011304 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0011968 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0012471 ORPHA:324540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000048 ORPHA:324540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000064 ORPHA:324540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000046 ORPHA:324540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0001376 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0002987 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0003019 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0003020 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0003306 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0004934 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0005116 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0005922 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0006135 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0006248 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0008800 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0011004 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0025015 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0030680 ORPHA:98028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0001167 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0001760 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0002815 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0002942 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0004417 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0009811 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0010833 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0012531 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0030314 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0030834 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0030839 ORPHA:98028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0000961 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0000980 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0001832 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0003207 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0003276 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98028 Rare circulatory system disease HP:0008081 ORPHA:98028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000089 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000232 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000343 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000377 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000463 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000582 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001162 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001252 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001321 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001511 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001596 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001629 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0001631 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0002208 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0002299 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0004322 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0004415 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0005280 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0006610 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0006817 ORPHA:75389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0008404 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0011344 ORPHA:75389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0011747 ORPHA:75389 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0011757 ORPHA:75389 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000369 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000411 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000750 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001249 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001263 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001290 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001999 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0002079 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0002194 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0006863 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0008468 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0008472 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0008897 ORPHA:480907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000218 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000276 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000307 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000336 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000343 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000365 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000389 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000463 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000486 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000494 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000729 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001382 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0002342 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0200136 ORPHA:480907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000219 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000252 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000286 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000347 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000414 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000455 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000490 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000527 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000574 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000664 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001250 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001264 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001332 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001337 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0001513 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0002395 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0005280 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0012032 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0000648 ORPHA:254343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0001260 ORPHA:254343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0001347 ORPHA:254343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0002313 ORPHA:254343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0003487 ORPHA:254343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0000182 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0000639 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0001270 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0001336 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0002073 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0002359 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0006895 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0007240 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0200049 ORPHA:254343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0000712 ORPHA:254343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0001265 ORPHA:254343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000028 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000047 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000175 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000233 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000248 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000252 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000286 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000316 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000337 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000343 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000369 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000405 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000407 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000446 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000463 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000470 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000486 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000520 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000545 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000639 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000664 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000668 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000750 ORPHA:254346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000752 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000821 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000826 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001250 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001252 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001263 ORPHA:254346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001363 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001397 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001511 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001513 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001629 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001631 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001653 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001659 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001852 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001863 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0001869 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0002079 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0002119 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0002230 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0002650 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0002804 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0002808 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0003077 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0004209 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0004279 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0006101 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0006191 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0006817 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0008572 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0011675 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0100716 ORPHA:254346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0001638 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0001663 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0001714 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0001962 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0002321 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0002875 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0003199 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0003458 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0003484 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0003547 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0003722 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0004756 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0005144 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0009023 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0009027 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0010872 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0011675 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0011712 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0012251 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0012270 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0031319 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0040014 ORPHA:263297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0000819 ORPHA:263297 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0000821 ORPHA:263297 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0040081 ORPHA:263297 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0004322 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0006712 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000286 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0008905 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0010485 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0012368 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0030084 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0100581 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000750 ORPHA:319182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000219 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000311 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000316 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000324 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000343 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000431 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000527 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000574 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000708 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000718 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000733 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000736 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000739 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000744 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000752 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000824 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0001182 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0001252 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0002015 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0002194 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0002750 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0004540 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0005616 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0008897 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0009811 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0011968 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0012745 ORPHA:319182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000218 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000252 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000268 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000348 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000369 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000465 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000506 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000508 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000664 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000767 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000960 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0001155 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0001249 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0001250 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0001273 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0001508 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0001511 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0002020 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0002230 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0002361 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0003196 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0004209 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0000969 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0001482 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0001744 ORPHA:33577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0001824 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0001945 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0002017 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0002027 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0002240 ORPHA:33577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0002829 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0002960 ORPHA:33577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0003326 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0008065 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0010783 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0012490 ORPHA:33577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33577 Nodular non-suppurative panniculitis HP:0100533 ORPHA:33577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0025289 ORPHA:50918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0000155 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0000988 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0000989 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0000992 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0001596 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0001824 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0001882 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0002039 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0002633 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0002716 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0002733 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0010783 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0011134 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0012378 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0025143 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0025300 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0025435 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0030166 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0100540 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0200029 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0200036 ORPHA:50918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0000464 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0001287 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0001744 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0001873 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0001875 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0001903 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0002829 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0002910 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0003326 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0003493 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0003565 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0006530 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0008066 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0011024 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0011227 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0011801 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0012733 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0025475 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0100827 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0200034 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0200035 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0200041 ORPHA:50918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0001251 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0002202 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0002240 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0008940 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0012819 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:50918 Kikuchi-Fujimoto disease HP:0200039 ORPHA:50918 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0000023 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0000098 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0000160 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0000218 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0000316 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0000348 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0000369 ORPHA:217385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0000445 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0000470 ORPHA:217385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0000494 ORPHA:217385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0001252 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0001263 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0001374 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0002007 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0002079 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0002119 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0003196 ORPHA:217385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0004209 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217385 17p13.3 microduplication syndrome HP:0008736 ORPHA:217385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0003477 ORPHA:497764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0008959 ORPHA:497764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0009053 ORPHA:497764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0000571 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0000768 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0001260 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0001265 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0001284 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0001761 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002066 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002070 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002317 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002396 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002936 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0003387 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0003693 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0007141 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0009027 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0012531 ORPHA:497764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0002073 ORPHA:497764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0006855 ORPHA:497764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:497764 Spinocerebellar ataxia type 43 HP:0000726 ORPHA:497764 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0000969 ORPHA:449285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0010783 ORPHA:449285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0011355 ORPHA:449285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0012531 ORPHA:449285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0031364 ORPHA:449285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0000707 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0001297 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0001649 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0001873 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0001892 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0001928 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0002013 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0002170 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0002637 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0003201 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0003470 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0003713 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0007024 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0009088 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0011900 ORPHA:449285 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0000225 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0000421 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0001658 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0001919 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0002014 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0002068 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0002203 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0002615 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0002878 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0002902 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0005521 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0030149 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0040075 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449285 Snakebite envenomation HP:0100665 ORPHA:449285 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001250 ORPHA:529665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0002353 ORPHA:529665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000316 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000341 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000455 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000463 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000545 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000639 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000657 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000750 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000938 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000939 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001256 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001257 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001260 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001272 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001290 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001310 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001321 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001337 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001347 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0002066 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0002069 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0002355 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0003698 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0011220 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0012758 ORPHA:529665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000505 ORPHA:529665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0000648 ORPHA:529665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0002133 ORPHA:529665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0003155 ORPHA:529665 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000750 ORPHA:391372 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002474 ORPHA:391372 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0009088 ORPHA:391372 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0011220 ORPHA:391372 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000119 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000194 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000303 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000316 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000403 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000455 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000478 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000486 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000494 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000508 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000539 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000708 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000729 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000736 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000739 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000954 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001257 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001270 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001371 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001508 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001627 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002019 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002236 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002342 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002714 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002788 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0003196 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0005272 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0007301 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0008762 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0010864 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0011823 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0011968 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0012471 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0410263 ORPHA:391372 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000077 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000256 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000278 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000581 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000598 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000639 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000819 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000821 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001212 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001250 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001252 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001256 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0001581 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002092 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0002353 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0007018 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0008589 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0012393 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0025502 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0030084 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0040303 ORPHA:391372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0001945 ORPHA:449280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0002721 ORPHA:449280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0032169 ORPHA:449280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0032255 ORPHA:449280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0001482 ORPHA:449280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0002090 ORPHA:449280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0010766 ORPHA:449280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0032162 ORPHA:449280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0032262 ORPHA:449280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0000246 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0000819 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0001701 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0001977 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0002102 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0002105 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0002206 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0002754 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0002878 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0003095 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0005059 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0005265 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0002795 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0011450 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0011919 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0012210 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0012387 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0012735 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0020101 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0031994 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0032159 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0032176 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0100584 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0100806 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449280 Scedosporiosis HP:0410263 ORPHA:449280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0001284 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0003474 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0003484 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0007340 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0011964 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0012735 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0030179 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0030200 ORPHA:90117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0000079 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0001337 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002483 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002540 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002936 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0003236 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0003698 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0007289 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0010546 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0030007 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0031910 ORPHA:90117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002015 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002094 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0002878 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0004887 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0010827 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0011014 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0011470 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0011951 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type HP:0410262 ORPHA:90117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0000717 ORPHA:217377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0000750 ORPHA:217377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0000826 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001249 ORPHA:217377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001250 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001513 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001609 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001611 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001761 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001763 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0001770 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217377 Microduplication Xp11.22p11.23 syndrome HP:0012557 ORPHA:217377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001878 ORPHA:33574 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0002503 ORPHA:33574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0003198 ORPHA:33574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0003355 ORPHA:33574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0009830 ORPHA:33574 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0000709 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0000952 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001249 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001251 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001260 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001263 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001347 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001433 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0001923 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33574 Glutamate-cysteine ligase deficiency HP:0010522 ORPHA:33574 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0000317 ORPHA:324588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002310 ORPHA:324588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001260 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001332 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001336 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002072 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002322 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002355 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002509 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0008936 ORPHA:324588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001347 ORPHA:324588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001635 ORPHA:324588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001644 ORPHA:324588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0002194 ORPHA:324588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324588 Familial dyskinesia and facial myokymia HP:0001249 ORPHA:324588 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0000762 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001256 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0003387 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0007078 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0007141 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0007210 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0008625 ORPHA:90103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001260 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001263 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001344 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001531 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0001761 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0002066 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0002522 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0003134 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0003409 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0003438 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0006938 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0008944 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0008954 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0008959 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0008962 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0009027 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0009031 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0009053 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0009129 ORPHA:90103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0002093 ORPHA:90103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0012046 ORPHA:90103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0012531 ORPHA:90103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0040078 ORPHA:90103 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0000286 ORPHA:324581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0000316 ORPHA:324581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0000341 ORPHA:324581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0001265 ORPHA:324581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0001290 ORPHA:324581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0001072 ORPHA:324581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0001270 ORPHA:324581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0001612 ORPHA:324581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0000160 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0000268 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0000431 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0001254 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0002058 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0002380 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0002795 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0003687 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0011220 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0031139 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324581 Benign Samaritan congenital myopathy HP:0031237 ORPHA:324581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:25968 Benign occipital epilepsy HP:0002384 ORPHA:25968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:25968 Benign occipital epilepsy HP:0012011 ORPHA:25968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:25968 Benign occipital epilepsy HP:0002013 ORPHA:25968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25968 Benign occipital epilepsy HP:0002315 ORPHA:25968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25968 Benign occipital epilepsy HP:0002367 ORPHA:25968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:25968 Benign occipital epilepsy HP:0025518 ORPHA:25968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0000605 ORPHA:251282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001276 ORPHA:251282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001347 ORPHA:251282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002061 ORPHA:251282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0000514 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001258 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002015 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002064 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002070 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002354 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002355 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002464 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002497 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0003487 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0006961 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0008969 ORPHA:251282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0000492 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0000508 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001332 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001337 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001761 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002166 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0010831 ORPHA:251282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0001250 ORPHA:251282 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0002921 ORPHA:251282 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:251282 Autosomal dominant spastic ataxia type 1 HP:0003700 ORPHA:251282 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0000750 ORPHA:208444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0001249 ORPHA:208444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0001263 ORPHA:208444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0001256 ORPHA:208444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0001285 ORPHA:208444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0001250 ORPHA:208444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0001269 ORPHA:208444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0002353 ORPHA:208444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0004302 ORPHA:208444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0006801 ORPHA:208444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208444 Bilateral frontal polymicrogyria HP:0002200 ORPHA:208444 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000750 ORPHA:208441 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0002194 ORPHA:208441 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0002539 ORPHA:208441 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0010862 ORPHA:208441 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000708 ORPHA:208441 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001249 ORPHA:208441 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001250 ORPHA:208441 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001263 ORPHA:208441 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0002069 ORPHA:208441 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000174 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000252 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000256 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000365 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000486 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000505 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000718 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000951 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001252 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001257 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001345 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0001999 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0002367 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0002384 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0007024 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0008765 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0011297 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0031258 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0031589 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0100852 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0000825 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001319 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001998 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0030796 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0031084 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0040299 ORPHA:324575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0000713 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0000842 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0000980 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001069 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001520 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001649 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001962 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001985 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0002173 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0002329 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0003162 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0004904 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0012051 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0012759 ORPHA:324575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001254 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001279 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001325 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0001518 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0002591 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0007185 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0009800 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0011968 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0012734 ORPHA:324575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324575 Hyperinsulinism due to HNF1A deficiency HP:0002240 ORPHA:324575 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002240 ORPHA:264580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002910 ORPHA:264580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0012379 ORPHA:264580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0030272 ORPHA:264580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001395 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001510 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001943 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001946 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002155 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003124 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003162 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0410175 ORPHA:264580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000147 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000823 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000858 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000876 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001249 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001263 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001396 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001397 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001508 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002194 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002360 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002719 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002913 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003202 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003236 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003323 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003326 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003394 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003546 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0004322 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0012378 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0030232 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0100607 ORPHA:264580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000750 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0000939 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001252 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001394 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001638 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001744 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001903 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0001947 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002013 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002014 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002018 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002040 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0003128 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0004324 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0006580 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0012028 ORPHA:264580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0001263 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0001285 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0001344 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0002020 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0002540 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0009062 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0010864 ORPHA:544469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0000252 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0001250 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0001272 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0001357 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0002059 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0002093 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0002169 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0002353 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0002650 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0008872 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0012448 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0032794 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0033725 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0000347 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0000369 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0000518 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0000648 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0001308 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0001347 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0001639 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0001776 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0003236 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0011097 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0100704 ORPHA:544469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0000488 ORPHA:544469 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0002313 ORPHA:544469 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0000822 ORPHA:251274 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0040084 ORPHA:251274 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0002900 ORPHA:251274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0008221 ORPHA:251274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0011740 ORPHA:251274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0000360 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0000421 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0001324 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0001657 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0001712 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0001959 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0002018 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0002150 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0002170 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0002315 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0200114 ORPHA:251274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251274 Familial hyperaldosteronism type III HP:0011739 ORPHA:251274 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002194 ORPHA:208447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0012736 ORPHA:208447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0031936 ORPHA:208447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0000708 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0000733 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0001257 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002197 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002300 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002510 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0008936 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0010864 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0011968 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0100022 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0100704 ORPHA:208447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0000252 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0000729 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0001256 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0001332 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0001510 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002020 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002069 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002079 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002123 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002133 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002187 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002342 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002360 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0004322 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0005216 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0006956 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0007166 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0007204 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0007359 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0007824 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0010553 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0010818 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0010819 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0010821 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0011147 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0011153 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0011344 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0012469 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0012704 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0025097 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0025100 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0025517 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0040288 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0100660 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0100716 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0200136 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0002376 ORPHA:208447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0000389 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0001047 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0002090 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0002099 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0002205 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0003212 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0004429 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0004429 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0005401 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0005403 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0005406 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0010976 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0011108 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0012203 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0200042 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0200043 ORPHA:217390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0002860 ORPHA:217390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0006763 ORPHA:217390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0030417 ORPHA:217390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0006350 ORPHA:49042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0006486 ORPHA:49042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0000683 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0000694 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0001382 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0006282 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0006286 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0006479 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0010299 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0011084 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0025124 ORPHA:49042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0000978 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0001592 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0006094 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0006335 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0006336 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0010485 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0045086 ORPHA:49042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0000365 ORPHA:49042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0000592 ORPHA:49042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49042 Dentinogenesis imperfecta HP:0003010 ORPHA:49042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012531 ORPHA:49041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000083 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000126 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000822 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0001824 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0001897 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002027 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002039 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003138 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003259 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003419 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003565 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0005310 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0011227 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012378 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012583 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0025379 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0030157 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0031191 ORPHA:49041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000074 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000872 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0001370 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0001919 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0001945 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002017 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002019 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002725 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002923 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003262 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003453 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0003765 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0010741 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012578 ORPHA:49041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000034 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000100 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000790 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0000802 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0002639 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0008682 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012871 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0012877 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0100518 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49041 IgG4-related retroperitoneal fibrosis HP:0100817 ORPHA:49041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000028 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000047 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000048 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000154 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000233 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000252 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000276 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000278 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000348 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000365 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000430 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000482 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000518 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000750 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000958 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000963 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0008070 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0001057 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0001249 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0001374 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0001508 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0001510 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0001511 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0001629 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0001770 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0001863 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0002164 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0002205 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0002213 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0002558 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0030680 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0004209 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0004326 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0005338 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0006101 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0006315 ORPHA:217346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0006610 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0008070 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0010761 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0011968 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0200102 ORPHA:217346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0000851 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0001263 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0001363 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0001513 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0001640 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0002583 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0003073 ORPHA:88643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001251 ORPHA:88644 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001272 ORPHA:88644 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001288 ORPHA:88644 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002493 ORPHA:88644 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000736 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001257 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001270 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001315 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001347 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002061 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002380 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0003202 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0003487 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0007340 ORPHA:88644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000020 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000486 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000508 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000570 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0000597 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001249 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001260 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001310 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001319 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001558 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001761 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002312 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002500 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002650 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002808 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0003445 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0007267 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0007772 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0011448 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0025402 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0031960 ORPHA:88644 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0001271 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002086 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0002495 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0003390 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0007178 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88644 Autosomal recessive ataxia, Beauce type HP:0007366 ORPHA:88644 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000164 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000218 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000252 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000272 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000286 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000322 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000347 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000356 ORPHA:217340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000463 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000574 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000664 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000717 ORPHA:217340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000722 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000729 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000823 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0001249 ORPHA:217340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0001252 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0001263 ORPHA:217340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0001508 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0001770 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0001852 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0002230 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0003196 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0004209 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217340 17q21.31 microduplication syndrome HP:0007018 ORPHA:217340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0011001 ORPHA:166119 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0011849 ORPHA:166119 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0040068 ORPHA:166119 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0004289 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0009106 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0011314 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0040163 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0100774 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0100925 ORPHA:166119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0000620 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0001376 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0001387 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0001474 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0002653 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0002823 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0002829 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0004240 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0012758 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0030838 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0030840 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0030955 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0031051 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0032148 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0100569 ORPHA:166119 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0000077 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0000175 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0000818 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0001159 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0001627 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0002960 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0007417 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0010562 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166119 Isolated osteopoikilosis HP:0100324 ORPHA:166119 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0008064 ORPHA:75325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0008209 ORPHA:75325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0010741 ORPHA:75325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0011001 ORPHA:75325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0008209 ORPHA:75325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0000962 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0000982 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0001036 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0002664 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0008404 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0011367 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0040189 ORPHA:166113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0001903 ORPHA:166113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0008066 ORPHA:166113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0012034 ORPHA:166113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0100816 ORPHA:166113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0000956 ORPHA:166113 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0000969 ORPHA:166113 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0000989 ORPHA:166113 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166113 Bazex syndrome HP:0030078 ORPHA:166113 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0000028 ORPHA:531151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0000126 ORPHA:531151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0001627 ORPHA:531151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0002355 ORPHA:531151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0002579 ORPHA:531151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0000508 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0000637 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0000750 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0001385 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0001883 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0002650 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0002714 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0003186 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0003422 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0007370 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0008897 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0012811 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0030809 ORPHA:531151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0000729 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0001250 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0001363 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0002282 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0003396 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:531151 9q21.13 microdeletion syndrome HP:0010442 ORPHA:531151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001627 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001629 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001635 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001643 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001659 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001712 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0002094 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0002875 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0031664 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0031668 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0032092 ORPHA:3092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001279 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001640 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001642 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001647 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001653 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001671 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001680 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001681 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0001962 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0004757 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0004970 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0006689 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0006695 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0012764 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0030950 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0030973 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3092 Fixed subaortic stenosis HP:0100749 ORPHA:3092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0001650 ORPHA:3093 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0002875 ORPHA:3093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0030148 ORPHA:3093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0001712 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0004380 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0005135 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0005176 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0010883 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0025075 ORPHA:3093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0001681 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0001706 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0005162 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0012664 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0030850 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0100584 ORPHA:3093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0001645 ORPHA:3093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3093 Congenital aortic valve stenosis HP:0012727 ORPHA:3093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0008058 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0008936 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0011471 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0012448 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0012736 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0030211 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0002169 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0003487 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0006579 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0010536 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0030921 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0030927 ORPHA:423479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0011903 ORPHA:423479 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0002187 ORPHA:423479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000268 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000316 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000369 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000407 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000430 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000490 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000543 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000556 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000577 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0000873 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0001116 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0001285 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0001511 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0001525 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0002069 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0002079 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0002509 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0004322 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0004639 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0006801 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0007965 ORPHA:423479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0000713 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0000729 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0000817 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001249 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001250 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001288 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002353 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002360 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002371 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002376 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002793 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0004302 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0004305 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0011968 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0012171 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0100022 ORPHA:3095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0000723 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0000735 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001252 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001257 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001332 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001773 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002066 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002186 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002300 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002540 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002876 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002882 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0003808 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0005484 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002505 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0011344 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0012719 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0032588 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0045084 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0100703 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0200055 ORPHA:3095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0000748 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001256 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001319 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001337 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0001510 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002123 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002194 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002650 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0002808 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0007281 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0007328 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0012469 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0025269 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0025387 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0030215 ORPHA:3095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3095 Atypical Rett syndrome HP:0007824 ORPHA:3095 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000027 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000135 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000670 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000682 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000789 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0001249 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0001252 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0001263 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002463 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0008734 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0008736 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0010807 ORPHA:96264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000028 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000046 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000110 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000286 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000316 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000389 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000486 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000545 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000581 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000582 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000679 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000684 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000717 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000771 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0001250 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0001763 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002019 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002099 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002205 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002650 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002673 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002827 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002974 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0003042 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0004209 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0005692 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0005930 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0007018 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0200021 ORPHA:96264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000175 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000248 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000303 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000445 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000457 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000470 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000737 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0000744 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0001337 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0001360 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0001762 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002020 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002079 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002139 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0002204 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0030680 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0004322 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0004936 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0005280 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0005978 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0008678 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0100025 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96264 49,XXXXY syndrome HP:0100962 ORPHA:96264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000023 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000027 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000028 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000046 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000098 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000110 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000135 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000175 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000248 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000286 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000303 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000316 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000324 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000389 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000457 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000470 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000486 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000581 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000582 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000670 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000679 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000682 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000684 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000717 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000737 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000739 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000750 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000771 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0000789 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0001250 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0001252 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0001256 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0001263 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0001337 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0001513 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0001762 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0001763 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0002019 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0002020 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0002099 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0002204 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0002205 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0002463 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0030680 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0002650 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0002673 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0002827 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0002974 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0003042 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0004209 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0004936 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0005692 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0005930 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0005978 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0006919 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0007018 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0008734 ORPHA:96263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0008736 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0010807 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0012433 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0100753 ORPHA:96263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96263 48,XXXY syndrome HP:0200021 ORPHA:96263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0000062 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0000142 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0000148 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0000776 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0006703 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0011027 ORPHA:3097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0000028 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0002101 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0004383 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0008736 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0030010 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0100632 ORPHA:3097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0000085 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0001629 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0001631 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0001636 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0001643 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0001650 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0001669 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0001680 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0001696 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0001710 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0001743 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0004736 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3097 Meacham syndrome HP:0010772 ORPHA:3097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000157 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000175 ORPHA:3098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000218 ORPHA:3098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000252 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000260 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000347 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000470 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001061 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001156 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001177 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001199 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001376 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0001642 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0002808 ORPHA:3098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0002815 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0002827 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0003063 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0003312 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0004322 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0005280 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0005930 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0008905 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0009811 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0009882 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0011362 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0100543 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001252 ORPHA:88639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001270 ORPHA:88639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001332 ORPHA:88639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002013 ORPHA:88639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002344 ORPHA:88639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0000286 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0000486 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0000639 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001250 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001347 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001508 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001942 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002078 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002119 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002151 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002360 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002521 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0003287 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0003468 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0007370 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0011334 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0011968 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0012469 ORPHA:88639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0000028 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0000737 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001298 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002093 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002352 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0012697 ORPHA:88639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001636 ORPHA:88639 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0002599 ORPHA:88639 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000159 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000212 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000218 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000280 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000343 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000494 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000974 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0001007 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0001382 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0001582 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0001763 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0002209 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0002650 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0011232 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0012724 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0040079 ORPHA:217335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000766 ORPHA:217335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000978 ORPHA:217335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0001537 ORPHA:217335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0001620 ORPHA:217335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0100543 ORPHA:217335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000028 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0000815 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0001156 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0004942 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0002659 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0008209 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217335 RIN2 syndrome HP:0011003 ORPHA:217335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome HP:0000668 ORPHA:88637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome HP:0000815 ORPHA:88637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome HP:0001251 ORPHA:88637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome HP:0003429 ORPHA:88637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000750 ORPHA:411493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001347 ORPHA:411493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0002194 ORPHA:411493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0010862 ORPHA:411493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000430 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000431 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000520 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000527 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000637 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001249 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001250 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001257 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001263 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001276 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001290 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0001510 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0002421 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0002538 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0002553 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0007141 ORPHA:411493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000737 ORPHA:411493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0002363 ORPHA:411493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0009879 ORPHA:411493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0025405 ORPHA:411493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000486 ORPHA:411493 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000505 ORPHA:411493 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411493 Pontocerebellar hypoplasia type 10 HP:0000648 ORPHA:411493 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates HP:0003198 ORPHA:88635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates HP:0003236 ORPHA:88635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0000100 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0000246 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0000421 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0000708 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0000980 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0001288 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0001369 ORPHA:3099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0001482 ORPHA:3099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0001633 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0001646 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0001654 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0001701 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0001945 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002017 ORPHA:3099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002019 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002027 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002039 ORPHA:3099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002072 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002076 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002093 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002103 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002167 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002380 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0002829 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0010318 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0010522 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0010526 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0010783 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0011675 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0012378 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0012733 ORPHA:3099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0012819 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0100248 ORPHA:3099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0100584 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0100749 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3099 Rheumatic fever HP:0100776 ORPHA:3099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0000365 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0000366 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0000426 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0000430 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0000431 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0000478 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0000504 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0000506 ORPHA:897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0000534 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0000664 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0001103 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0001341 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0002019 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0002027 ORPHA:897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0002211 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0002216 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0002226 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0002227 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0002242 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0002251 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0005214 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0005599 ORPHA:897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:897 Waardenburg-Shah syndrome HP:0007703 ORPHA:897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0000252 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0000271 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0000365 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0000446 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0000494 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0000506 ORPHA:896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0000574 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0000581 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0001063 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0001167 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0001249 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0001258 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0001387 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0001631 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0002779 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0002817 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0005048 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0010554 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0010804 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0011364 ORPHA:896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0100490 ORPHA:896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:896 Waardenburg syndrome type 3 HP:0100750 ORPHA:896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0002333 ORPHA:168782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0002376 ORPHA:168782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0010864 ORPHA:168782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0001250 ORPHA:168782 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0000729 ORPHA:168782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0001268 ORPHA:168782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0007064 ORPHA:168782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0100851 ORPHA:168782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0000020 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0000733 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0000735 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0000739 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0001344 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0002607 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0007086 ORPHA:168782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168782 Childhood disintegrative disorder HP:0000726 ORPHA:168782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000238 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000541 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000556 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000587 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000648 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001249 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001252 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001263 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001265 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001284 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001302 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001321 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001324 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001328 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001339 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001460 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0002119 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0002126 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0002269 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0002334 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0002536 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0003202 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0003560 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0007227 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0007731 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0007973 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0010508 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0012400 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0040081 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0045040 ORPHA:899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000028 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000256 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000501 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000528 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000568 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001274 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001305 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001331 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0007957 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0008736 ORPHA:899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000175 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000176 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000193 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000252 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000358 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000369 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000411 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000482 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000518 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0000612 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:899 Walker-Warburg syndrome HP:0001250 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000023 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000028 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000047 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000179 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000202 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000308 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000316 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000340 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000400 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000414 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000431 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000486 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0000582 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0001176 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0001250 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0001376 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0001597 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0002162 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0002242 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0002650 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0002750 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0004209 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0008559 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0009882 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0010864 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0011304 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0011344 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0100335 ORPHA:3080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3080 Intellectual disability, Wolff type HP:0100490 ORPHA:3080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000028 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000174 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000303 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000347 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000405 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000446 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000470 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000582 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000601 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000768 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0000772 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0001162 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0001249 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0001595 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0001770 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0001991 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0002007 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0002217 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0002808 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0004209 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0004299 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0004322 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0005930 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0006265 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0006610 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0008736 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0009738 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0009896 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0009906 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0010059 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0010508 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0010978 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0030056 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome HP:0100840 ORPHA:3082 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000028 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000147 ORPHA:3085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000280 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000407 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000505 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000518 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000639 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000771 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000815 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000842 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000869 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000956 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000958 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001156 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001249 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001272 ORPHA:3085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001513 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001769 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0001831 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0002750 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0002808 ORPHA:3085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0003307 ORPHA:3085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0004322 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0005978 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0007703 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0008734 ORPHA:3085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0010562 ORPHA:3085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0003118 ORPHA:96253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0003466 ORPHA:96253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0008291 ORPHA:96253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0012030 ORPHA:96253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000141 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000708 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000712 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000819 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000822 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000939 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000953 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000963 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000978 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001007 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001050 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001058 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001061 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001065 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001324 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001626 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001888 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001956 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001974 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0002721 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0003154 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0004324 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0007126 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0008221 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0010284 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0012743 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0025017 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0025383 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0030200 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0031891 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0040270 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0500011 ORPHA:96253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000716 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000725 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000869 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000876 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000979 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001297 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001658 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0002086 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0002209 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0002315 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0002354 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0002690 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0002953 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0011370 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0031284 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0031364 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0031589 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0031845 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0200042 ORPHA:96253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000709 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0000726 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0001123 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0007807 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0010741 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0010885 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0011999 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96253 Cushing disease HP:0025269 ORPHA:96253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88629 Tritanopia HP:0000479 ORPHA:88629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88629 Tritanopia HP:0000552 ORPHA:88629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88629 Tritanopia HP:0030584 ORPHA:88629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88629 Tritanopia HP:0000613 ORPHA:88629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88629 Tritanopia HP:0007663 ORPHA:88629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88629 Tritanopia HP:0012043 ORPHA:88629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0012532 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0012785 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0030147 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0040132 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002607 ORPHA:88628 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0000518 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001250 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001284 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001251 ORPHA:88628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002166 ORPHA:88628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0010831 ORPHA:88628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0000510 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0000572 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0000580 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0000662 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001249 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001288 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0001290 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002066 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0007737 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0040078 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0045010 ORPHA:88628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002143 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002194 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002403 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002579 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002650 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002754 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0002808 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0003394 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome HP:0012385 ORPHA:88628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0000822 ORPHA:231632 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0003351 ORPHA:231632 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0011740 ORPHA:231632 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0002315 ORPHA:231632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0002900 ORPHA:231632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0006735 ORPHA:231632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0100615 ORPHA:231632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0200114 ORPHA:231632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0000360 ORPHA:231632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0000421 ORPHA:231632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0001324 ORPHA:231632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0002018 ORPHA:231632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231632 Ectopic aldosterone-producing tumor HP:0008256 ORPHA:231632 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:88621 Ichthyosis-prematurity syndrome HP:0001622 ORPHA:88621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88621 Ichthyosis-prematurity syndrome HP:0001880 ORPHA:88621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88621 Ichthyosis-prematurity syndrome HP:0002643 ORPHA:88621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88621 Ichthyosis-prematurity syndrome HP:0007549 ORPHA:88621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88621 Ichthyosis-prematurity syndrome HP:0008064 ORPHA:88621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0025197 ORPHA:88630 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0025473 ORPHA:88630 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000191 ORPHA:88630 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001156 ORPHA:88630 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001371 ORPHA:88630 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001596 ORPHA:88630 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0030084 ORPHA:88630 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000286 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000316 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000437 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000612 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0000685 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001159 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001655 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0002650 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0004322 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0004467 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0009139 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0010306 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0012385 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0045039 ORPHA:88630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001653 ORPHA:88630 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome HP:0001723 ORPHA:88630 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000028 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000158 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000164 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000179 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000189 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000256 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000280 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000286 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000293 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000368 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000470 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000474 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000486 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000563 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000682 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000951 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000956 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0000962 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001231 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001249 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001531 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001561 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001582 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001595 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001598 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001629 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001634 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001639 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001642 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001800 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0001814 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0002020 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0002033 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0002120 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0002224 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0002750 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0004322 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0004690 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0005280 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0005692 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0007440 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0007477 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0008872 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0009465 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0009748 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0012740 ORPHA:3071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0100679 ORPHA:3071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3071 Costello syndrome HP:0100729 ORPHA:3071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0000316 ORPHA:3074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0000337 ORPHA:3074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0000343 ORPHA:3074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0000445 ORPHA:3074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0000463 ORPHA:3074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0001249 ORPHA:3074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0002007 ORPHA:3074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0004209 ORPHA:3074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome HP:0010669 ORPHA:3074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002160 ORPHA:88618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002910 ORPHA:88618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0003073 ORPHA:88618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0010901 ORPHA:88618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0010919 ORPHA:88618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000486 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000565 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000708 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000736 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001263 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001321 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001392 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001508 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001510 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001789 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001928 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001976 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001999 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002079 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002376 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002421 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0003236 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0003429 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0003560 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0008151 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0008169 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0008947 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0011900 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0011996 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0012110 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0008151 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0012448 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0030890 ORPHA:88618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000164 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000252 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001324 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001402 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001638 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0001763 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002119 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0002878 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0003235 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0007141 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0010719 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0012704 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001259 ORPHA:88619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002922 ORPHA:88619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0006846 ORPHA:88619 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001249 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001250 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001257 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001260 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001276 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001288 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0001945 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002013 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002063 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002171 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002181 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002363 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002376 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002510 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0002793 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0003324 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0010663 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0011887 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0012747 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0025404 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88619 Familial acute necrotizing encephalopathy HP:0031982 ORPHA:88619 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0000158 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0000239 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0000271 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0000280 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0000821 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0000853 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0000952 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0001249 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0001252 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0001263 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0001537 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0001615 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0002019 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0002045 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0002360 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0002445 ORPHA:226292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0003270 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0004322 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0008188 ORPHA:226292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:226292 Permanent congenital hypothyroidism HP:0011968 ORPHA:226292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000194 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000268 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000289 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000322 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000338 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000341 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000347 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000411 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000446 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000455 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000752 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0000960 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001263 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001290 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001319 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001618 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0002015 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0002553 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0002705 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0010804 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0011081 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0011968 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0012471 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0030197 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0030200 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0040288 ORPHA:166108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001284 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0001308 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0005060 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0005879 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0007002 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0007269 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166108 Intellectual disability, Birk-Barel type HP:0008366 ORPHA:166108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000272 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001156 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001230 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001249 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001769 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001783 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001831 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0003196 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0005280 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0006009 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0009803 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0010049 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0010055 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0010743 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0012368 ORPHA:439822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000280 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000303 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000322 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000327 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001511 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0005616 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0008897 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0010579 ORPHA:439822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000028 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000047 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000219 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000248 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000283 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000316 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000343 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000347 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000358 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000365 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000448 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000505 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000508 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000540 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000565 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000601 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000637 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000682 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0000729 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001250 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001319 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001388 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001513 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0001763 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0002003 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0002007 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0002516 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0002615 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0002684 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0003165 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0003301 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0005274 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0005819 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0008457 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0009824 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0010665 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439822 PDE4D haploinsufficiency syndrome HP:0045025 ORPHA:439822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0003119 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0003401 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0003493 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0004855 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0005293 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0005543 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0025343 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0030350 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0031190 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0031364 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0031365 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0032018 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0040224 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0040248 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0100963 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0410008 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0001876 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0001901 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0001974 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0002140 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0002725 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0002814 ORPHA:542643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0200042 ORPHA:542643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0000953 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0000965 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0001058 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0001075 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0001581 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0001903 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0001977 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0002619 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0002960 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0003029 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0003565 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0005339 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0007572 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0010741 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0012514 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0025016 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0100585 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0100724 ORPHA:542643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0000819 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0000822 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0001760 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0001976 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0002160 ORPHA:542643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0012393 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542643 Livedoid vasculopathy HP:0100647 ORPHA:542643 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000162 ORPHA:166100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000175 ORPHA:166100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000272 ORPHA:166100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000343 ORPHA:166100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000347 ORPHA:166100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000407 ORPHA:166100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000767 ORPHA:166100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000768 ORPHA:166100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0002758 ORPHA:166100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0002829 ORPHA:166100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0005916 ORPHA:166100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0100777 ORPHA:166100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0000053 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0000718 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0000737 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0000752 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001250 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002360 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0006801 ORPHA:3077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001337 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001635 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002039 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002061 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002342 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002395 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0004322 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0006919 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0007302 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0010864 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0011188 ORPHA:3077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001297 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001300 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0001513 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002136 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002322 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002362 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0002751 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0025403 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0100852 ORPHA:3077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000252 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000648 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001250 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001276 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0008850 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0012715 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000618 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001257 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001518 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0002198 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0002788 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0005486 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0005949 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0010864 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0012444 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0040288 ORPHA:3078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000076 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000239 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000347 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000377 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000400 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001199 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001305 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001321 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001336 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001374 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001629 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001838 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0001848 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0003196 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0005781 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0006829 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0006956 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0008110 ORPHA:3078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000126 ORPHA:3079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000218 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000252 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000303 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000316 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000340 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000400 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000431 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000494 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000581 ORPHA:3079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000613 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000689 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000768 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0001231 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0001249 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0001537 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0001671 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0002064 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0002167 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0002213 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0002644 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0002683 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0004209 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0004322 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0004349 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0004422 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0006482 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0008407 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0008425 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0010807 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0002355 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0002913 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0003236 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0003326 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0003546 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0003551 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0012086 ORPHA:98895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0001324 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0002527 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0002814 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0002910 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0003394 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0012378 ORPHA:98895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0001763 ORPHA:98895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0003202 ORPHA:98895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98895 Becker muscular dystrophy HP:0030051 ORPHA:98895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0000750 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0001263 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0001270 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0001328 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0001371 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0001638 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0002093 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0002515 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0002650 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0003202 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0003236 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0003323 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0003701 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0008981 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98896 Duchenne muscular dystrophy HP:0100543 ORPHA:98896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0000590 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0030319 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0007838 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0000597 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0000301 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0008376 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0200136 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0009063 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0008944 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0007149 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0002747 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0000408 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0009073 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0001824 ORPHA:98897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0002058 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0002705 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0000183 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0002091 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0002100 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0430015 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0001604 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0008756 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0009027 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0002355 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0001284 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:3000005 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0030192 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0008963 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0008959 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0009053 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0002505 ORPHA:98897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0010550 ORPHA:98897 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0008997 ORPHA:98897 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:3000010 ORPHA:98897 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0031162 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98897 Oculopharyngodistal myopathy HP:0000218 ORPHA:98897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000252 ORPHA:391307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0001263 ORPHA:391307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0001999 ORPHA:391307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0010864 ORPHA:391307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000708 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000718 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000733 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000750 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002360 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002650 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002751 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0004322 ORPHA:391307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000164 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000233 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000340 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000400 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000448 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000486 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000490 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000664 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000737 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000752 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0001888 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002079 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002342 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002486 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0002500 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0004691 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0008209 ORPHA:391307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:871 Familial progressive cardiac conduction defect HP:0001279 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:871 Familial progressive cardiac conduction defect HP:0001635 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:871 Familial progressive cardiac conduction defect HP:0002027 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:871 Familial progressive cardiac conduction defect HP:0002094 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:871 Familial progressive cardiac conduction defect HP:0002321 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:871 Familial progressive cardiac conduction defect HP:0011675 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:871 Familial progressive cardiac conduction defect HP:0011710 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:871 Familial progressive cardiac conduction defect HP:0012722 ORPHA:871 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000144 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000158 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000160 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000164 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000179 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000189 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000194 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000235 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000248 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000286 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000405 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000457 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000470 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000474 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000486 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000518 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000545 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000582 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000691 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0000821 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0008070 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0001156 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0001249 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0001252 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0001288 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0001388 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0001513 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0001537 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0001852 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0002023 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0002251 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0002376 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0030680 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0002714 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0003196 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0004209 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0005280 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0005978 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0006733 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0007328 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0007495 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0007598 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0008678 ORPHA:870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0010808 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0010978 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0012368 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0100763 ORPHA:870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:870 Down syndrome HP:0100830 ORPHA:870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0030499 ORPHA:75376 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0030500 ORPHA:75376 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0000572 ORPHA:75376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0007754 ORPHA:75376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0007937 ORPHA:75376 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0007703 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0011509 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0012508 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0030629 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0030631 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0030632 ORPHA:75376 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0000613 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0007401 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0007793 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0007950 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0011506 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0012231 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0025574 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0030528 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75376 Familial drusen HP:0031526 ORPHA:75376 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0000126 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0001376 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0001482 ORPHA:873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0002024 ORPHA:873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0002027 ORPHA:873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0002239 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0002797 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0002829 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0003011 ORPHA:873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0003326 ORPHA:873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0004298 ORPHA:873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0005214 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0007703 ORPHA:873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0008069 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0010614 ORPHA:873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0010935 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0100245 ORPHA:873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0100749 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0100806 ORPHA:873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:873 Desmoid tumor HP:0200008 ORPHA:873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0000505 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0000545 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0000565 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0000580 ORPHA:75373 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0000639 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0001135 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75373 Progressive bifocal chorioretinal atrophy HP:0007401 ORPHA:75373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75374 Bradyopsia HP:0000505 ORPHA:75374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75374 Bradyopsia HP:0000613 ORPHA:75374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002751 ORPHA:3063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000175 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000179 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000275 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000276 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000324 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000939 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001166 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001519 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001611 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002317 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002808 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0003199 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0008947 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0010511 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0011308 ORPHA:3063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000028 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000029 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000047 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000160 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000218 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000316 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000319 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000369 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000414 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000426 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000463 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000465 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000582 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000664 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000678 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000750 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001256 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001336 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001344 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001999 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002123 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002353 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002540 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002757 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0003698 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0004305 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0007509 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0007687 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0010722 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0011153 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0045075 ORPHA:3063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000086 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000232 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000248 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000303 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000322 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000378 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000385 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000391 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000520 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000767 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0000768 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0001355 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002181 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0002187 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0004322 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0006610 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0010789 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0011003 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3063 X-linked intellectual disability, Snyder type HP:0012385 ORPHA:3063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000252 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000278 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000325 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000426 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0001270 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0001999 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0002172 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0008947 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0011094 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0011343 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000218 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000341 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000411 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000490 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0001166 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0002761 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0002996 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0005469 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0005922 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0006927 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0010501 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0010669 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0010850 ORPHA:319171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000039 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000175 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000180 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000191 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000243 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000252 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000308 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000340 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000368 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000414 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000465 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000470 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000480 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000506 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000582 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001162 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001249 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001252 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001263 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001305 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001338 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001629 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001643 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001830 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0001999 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0002079 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0002198 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0002419 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0007082 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0007165 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0008689 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0008753 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0010051 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0010055 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0010066 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0010297 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0010535 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0011069 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0011471 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0011802 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0012447 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0100954 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:868 Triose phosphate-isomerase deficiency HP:0000762 ORPHA:868 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:868 Triose phosphate-isomerase deficiency HP:0001252 ORPHA:868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:868 Triose phosphate-isomerase deficiency HP:0001639 ORPHA:868 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:868 Triose phosphate-isomerase deficiency HP:0003202 ORPHA:868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:868 Triose phosphate-isomerase deficiency HP:0006597 ORPHA:868 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:868 Triose phosphate-isomerase deficiency HP:0007009 ORPHA:868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:868 Triose phosphate-isomerase deficiency HP:0010978 ORPHA:868 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:867 Familial multiple trichoepithelioma HP:0001482 ORPHA:867 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:867 Familial multiple trichoepithelioma HP:0002671 ORPHA:867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:867 Familial multiple trichoepithelioma HP:0100585 ORPHA:867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:867 Familial multiple trichoepithelioma HP:0200034 ORPHA:867 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000044 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000174 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000252 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000316 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000324 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000377 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000411 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000426 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000494 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000508 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000545 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000597 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000768 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000772 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0001376 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0001519 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0002231 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0030680 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0002575 ORPHA:3068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0002750 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0003202 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0003272 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0003307 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0004209 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0004303 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0004322 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0004493 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0008736 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0010628 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0010864 ORPHA:3068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0000846 ORPHA:869 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0001250 ORPHA:869 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0002571 ORPHA:869 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0007440 ORPHA:869 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0000505 ORPHA:869 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0000982 ORPHA:869 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0004322 ORPHA:869 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0000252 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0000407 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0000612 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0000648 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0000830 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0001251 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0001252 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0001347 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0001430 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0001761 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0002093 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0002376 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0007002 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0007556 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:869 Triple A syndrome HP:0010486 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000282 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000969 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0001265 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0001324 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0002018 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0003212 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0003457 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0030953 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0100539 ORPHA:863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000211 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000360 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000496 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000509 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000602 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000708 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000737 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000741 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000988 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0001254 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0001262 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0001269 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0001289 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0001626 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0002015 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0002321 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0002354 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0002921 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0004372 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0005986 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0200026 ORPHA:863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000553 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000573 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000587 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0000651 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0001287 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0001298 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0002301 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0002381 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0003487 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0009916 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0010628 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:863 Trichinellosis HP:0025342 ORPHA:863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0000961 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001649 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001693 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0011028 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0011563 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0012418 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0030148 ORPHA:860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0000975 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001508 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001629 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001631 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001633 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001635 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001640 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001641 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001643 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001667 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0002789 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0006704 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0010772 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0012303 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0025074 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0031348 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0031349 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0032092 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0200128 ORPHA:860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001518 ORPHA:860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0001680 ORPHA:860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0002240 ORPHA:860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0011611 ORPHA:860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0012304 ORPHA:860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:860 Congenitally uncorrected transposition of the great arteries HP:0009800 ORPHA:860 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000028 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000046 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000143 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000154 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000160 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000162 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000164 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000175 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000204 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000218 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000248 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000272 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000278 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000294 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000316 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000327 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000347 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000370 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000384 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000405 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000431 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000453 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000486 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000494 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000505 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000518 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000561 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000568 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000612 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000625 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000643 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000682 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000778 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000834 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0000925 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0001263 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0001508 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0001595 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0001643 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0001999 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0002006 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0002007 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0002084 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0002093 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0030680 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0002575 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0004348 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0005701 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0005990 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0006482 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0008551 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0008736 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0009795 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0009804 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0010807 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0011219 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0011386 ORPHA:861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0011800 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0002381 ORPHA:861 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0002652 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:861 Treacher-Collins syndrome HP:0010669 ORPHA:861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000154 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000232 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000233 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000252 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000319 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000325 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000343 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000463 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0008070 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001156 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0005916 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001249 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001263 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001328 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001373 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001596 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002300 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002381 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002381 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002705 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0004279 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0009928 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0010529 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000028 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000035 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000446 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000527 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000581 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000964 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001167 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001250 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0001852 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002121 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002133 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002553 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002650 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0003510 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0006610 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0007392 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0007665 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0009836 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0010720 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0011097 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0012745 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0100760 ORPHA:3051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000494 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0002750 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0005616 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0005930 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0030680 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0100790 ORPHA:3051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0007642 ORPHA:75382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0007984 ORPHA:75382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0030824 ORPHA:75382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0000539 ORPHA:75382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0000545 ORPHA:75382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0000608 ORPHA:75382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0000486 ORPHA:75382 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0000505 ORPHA:75382 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0000510 ORPHA:75382 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0000639 ORPHA:75382 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0000651 ORPHA:75382 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0001123 ORPHA:75382 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:75382 Oguchi disease HP:0007641 ORPHA:75382 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome HP:0001249 ORPHA:3052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome HP:0001250 ORPHA:3052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome HP:0003765 ORPHA:3052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome HP:0003538 ORPHA:3052 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome HP:0008064 ORPHA:3052 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000026 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000027 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000119 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000243 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000262 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000280 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000316 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000347 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000368 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000394 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000519 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000708 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000744 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000750 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0001263 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000771 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0003241 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0000837 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0002750 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0001176 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0009237 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0001249 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0001252 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0001999 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0002119 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0002500 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0002650 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0002761 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0002788 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0002967 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0002974 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0003782 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0003946 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0004237 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0008193 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0008734 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0011310 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0011343 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0040019 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0040171 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0045058 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0100559 ORPHA:99330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99330 49,XYYYY syndrome HP:0100710 ORPHA:99330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0008959 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0009046 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0010628 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0012391 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0003803 ORPHA:178145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0004976 ORPHA:178145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0005001 ORPHA:178145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0001319 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0001762 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0002194 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0003324 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0003327 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0005692 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178145 Moderate multiminicore disease with hand involvement HP:0008954 ORPHA:178145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000232 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000272 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000280 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000316 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000463 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000750 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001252 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001263 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002263 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0003196 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0010804 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0010864 ORPHA:261494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000158 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000248 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000252 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000303 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000337 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000365 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000389 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000391 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000582 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000664 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000708 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000718 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000729 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000742 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001513 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001629 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001647 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001680 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002019 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002360 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002553 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0011675 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000028 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000047 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000054 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000076 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000083 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000107 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000126 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000324 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000684 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0000733 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001250 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001274 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001376 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001636 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0001762 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002020 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002021 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002094 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002119 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002120 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002205 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002376 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002558 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002607 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002650 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002714 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0002779 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0004322 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0004415 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0006288 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0008736 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0100716 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261494 Kleefstra syndrome HP:0100790 ORPHA:261494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000028 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000218 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000268 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000369 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000426 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000465 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000470 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000954 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0001371 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0001591 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002093 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002194 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002650 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002792 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002804 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0003327 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0003789 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0008050 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0030084 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0100297 ORPHA:178148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0002808 ORPHA:178148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0000822 ORPHA:231625 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0100631 ORPHA:231625 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0001324 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0003118 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0002900 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0003351 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0011740 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0200114 ORPHA:231625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0001962 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0002018 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0003081 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0003394 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0003401 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0005135 ORPHA:231625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0000360 ORPHA:231625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0000421 ORPHA:231625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0002170 ORPHA:231625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0002315 ORPHA:231625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0000718 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0000729 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0000750 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0000752 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0001252 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0001257 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0002342 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0002360 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0003763 ORPHA:356996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0000256 ORPHA:356996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0001250 ORPHA:356996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0001256 ORPHA:356996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome HP:0001520 ORPHA:356996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000028 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000047 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000048 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000076 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000077 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000083 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000086 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000089 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000130 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000142 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000143 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000154 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000324 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000365 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000384 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000396 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000486 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000504 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000518 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000567 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000568 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000581 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000612 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000772 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000821 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0000823 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001140 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001177 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001199 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001249 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001274 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001482 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001508 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001545 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001631 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001636 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001641 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001643 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001671 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001760 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001763 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001770 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0001863 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0002019 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0002023 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0002308 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0030680 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0002607 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0003468 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0004209 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0004322 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0004792 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0005562 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0006824 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0008551 ORPHA:857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0008572 ORPHA:857 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0008736 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0009465 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0009912 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0009944 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0010059 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0010331 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0010481 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0010760 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0011304 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:857 Townes-Brocks syndrome HP:0100559 ORPHA:857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000028 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000368 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000486 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000506 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000708 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0001249 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0001250 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0001263 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0001513 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0001608 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0004322 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0008736 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0010468 ORPHA:3055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0008064 ORPHA:3055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000639 ORPHA:3055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000964 ORPHA:3055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000992 ORPHA:3055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0004299 ORPHA:3055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000026 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000027 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000098 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000179 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000218 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000286 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000316 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000343 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000470 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000708 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000718 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000744 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0000750 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0001263 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0012210 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0001061 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0001249 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0001256 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0001760 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0001763 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0002099 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0002788 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0002974 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0003083 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0005280 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0006297 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0006316 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0007477 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0008193 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0011968 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99329 48,XYYY syndrome HP:0100710 ORPHA:99329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0001873 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0001875 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0001876 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0001888 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0001919 ORPHA:859 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0001980 ORPHA:859 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0002720 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0002850 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0003220 ORPHA:859 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0004313 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0004315 ORPHA:859 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:859 Transcobalamin deficiency HP:0012120 ORPHA:859 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3057 Monoamine oxidase A deficiency HP:0000708 ORPHA:3057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3057 Monoamine oxidase A deficiency HP:0100543 ORPHA:3057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0000238 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0000252 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0000365 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0000505 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0000568 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0000639 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0000952 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0001250 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0001252 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0001263 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0001511 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0001531 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0001541 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0001622 ORPHA:858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0001640 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0001873 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0001903 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0002014 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0002119 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0002240 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0002514 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0002716 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0002910 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0007703 ORPHA:858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0012733 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:858 Congenital toxoplasmosis HP:0100543 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0004809 ORPHA:853 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0000967 ORPHA:853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0000979 ORPHA:853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0001892 ORPHA:853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0007420 ORPHA:853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0012541 ORPHA:853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0000790 ORPHA:853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0002170 ORPHA:853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0002239 ORPHA:853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0002249 ORPHA:853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0031364 ORPHA:853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0000618 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0000707 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0001263 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0002138 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0008619 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia HP:0100021 ORPHA:853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0030631 ORPHA:75377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0031152 ORPHA:75377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0000505 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0000572 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0007401 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0007663 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0007894 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0007924 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0030615 ORPHA:75377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0000533 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0007814 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0007980 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0011510 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0030491 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0030629 ORPHA:75377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0000662 ORPHA:75377 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75377 Central areolar choroidal dystrophy HP:0007641 ORPHA:75377 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75378 Oligocone trichromacy HP:0000512 ORPHA:75378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75378 Oligocone trichromacy HP:0000613 ORPHA:75378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000028 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000062 ORPHA:893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000232 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000252 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000347 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000364 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000501 ORPHA:893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000505 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000508 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000518 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0000639 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0001249 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0001513 ORPHA:893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0002650 ORPHA:893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0004322 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0007299 ORPHA:893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0008053 ORPHA:893 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:893 WAGR syndrome HP:0100627 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0000478 ORPHA:892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0000822 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0005584 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0006748 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0006880 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0009711 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0011976 ORPHA:892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0000572 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0000739 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0000975 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0000980 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0001085 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0001095 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0001297 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0001638 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0001737 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0001962 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0002027 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0002315 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0002321 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0003334 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0003418 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0003484 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0005162 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0005562 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0008261 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0009053 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0009715 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0009763 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0011675 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0030393 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0030405 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0040049 ORPHA:892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0000541 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0001658 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0001901 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0002516 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0002668 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0002894 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0012819 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:892 Von Hippel-Lindau disease HP:0030424 ORPHA:892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0000365 ORPHA:895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0002216 ORPHA:895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0005599 ORPHA:895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0000407 ORPHA:895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0001053 ORPHA:895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0001100 ORPHA:895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0002211 ORPHA:895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0000077 ORPHA:895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0000506 ORPHA:895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0000508 ORPHA:895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0002251 ORPHA:895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:895 Waardenburg syndrome type 2 HP:0004414 ORPHA:895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000175 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000204 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000303 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000365 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000430 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000431 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000478 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000486 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000504 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000506 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000508 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000574 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000632 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000664 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0000912 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0001053 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0001100 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0001595 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0002211 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0002216 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0002226 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0002227 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0002251 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0002414 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0002435 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0030680 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0002650 ORPHA:894 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0003196 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0005599 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0008527 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0010804 ORPHA:894 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:894 Waardenburg syndrome type 1 HP:0011364 ORPHA:894 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0000565 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0000938 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0001250 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0001290 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0001337 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0001397 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0001508 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0002019 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0002020 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0002167 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0002910 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0003256 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0003429 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0003642 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0004322 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0005616 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0007301 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0012758 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0410018 ORPHA:300536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0000958 ORPHA:300536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0009125 ORPHA:300536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0000832 ORPHA:300536 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:300536 DDOST-CDG HP:0012593 ORPHA:300536 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001761 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001831 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001840 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001956 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002205 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002313 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002378 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002938 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002942 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002944 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0004691 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0004692 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0005469 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0008414 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0009738 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0011220 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0011800 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0011968 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0030044 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000232 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000233 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000348 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000455 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000490 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000582 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001999 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002234 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002292 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0003086 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0010864 ORPHA:3041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000054 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000135 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000219 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000414 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000635 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001250 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002317 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0002751 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0003065 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0003199 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0003241 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0003758 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0008734 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0008947 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0010499 ORPHA:3041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000218 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000268 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000286 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000322 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000411 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000742 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0000957 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001187 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001310 ORPHA:3041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000135 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000174 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000238 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000400 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000405 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000494 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000518 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000664 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000767 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000771 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000774 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001249 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001250 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001288 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001357 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001371 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001798 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0001903 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0002376 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0002650 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0002797 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0002808 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0002868 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0003198 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0003273 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0003301 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0003312 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0004322 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0005103 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0005121 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0008689 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0011800 ORPHA:3042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0012062 ORPHA:3042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0007773 ORPHA:891 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0007685 ORPHA:891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0001493 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0007663 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0007917 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0012795 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0030666 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0031526 ORPHA:891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0000252 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0000365 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0000518 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0000533 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0000568 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0000618 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0001004 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0001141 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0001256 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0001270 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0004349 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0007902 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0011342 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0012230 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0030496 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0030503 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0040049 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0100014 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:891 Familial exudative vitreoretinopathy HP:0100832 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0000083 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0000952 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0001541 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0002027 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0002240 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0002878 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0002910 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0003573 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0004324 ORPHA:890 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0001928 ORPHA:890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0003645 ORPHA:890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:890 Hepatic veno-occlusive disease HP:0002480 ORPHA:890 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000028 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000135 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000233 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000414 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000490 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001256 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001263 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001508 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001620 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001773 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0004322 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0008734 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0200055 ORPHA:261483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0000771 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001252 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001511 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0001956 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0002231 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0002750 ORPHA:261483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261483 Xq27.3q28 duplication syndrome HP:0008209 ORPHA:261483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002148 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002150 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0003109 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0004912 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0010639 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0031415 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0031425 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0031428 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0031817 ORPHA:157215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0000787 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0000924 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0001510 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002653 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002749 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0004349 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0012408 ORPHA:157215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0000897 ORPHA:157215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002515 ORPHA:157215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002756 ORPHA:157215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0002979 ORPHA:157215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157215 Hereditary hypophosphatemic rickets with hypercalciuria HP:0004322 ORPHA:157215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001392 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001409 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002027 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002240 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002904 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0003073 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0006707 ORPHA:88673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001824 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002034 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002039 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002040 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002910 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0003270 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0005293 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0005978 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0410019 ORPHA:88673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0000952 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001541 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0000712 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001873 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001894 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001901 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001903 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001943 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001945 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002014 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002094 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002480 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002605 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002653 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002664 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002900 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002902 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0003072 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0001939 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0004396 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0010741 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0011029 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0012050 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0012378 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0025142 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0100762 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0200114 ORPHA:88673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002615 ORPHA:88673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0002639 ORPHA:88673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:88673 Hepatocellular carcinoma HP:0100523 ORPHA:88673 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0001644 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0001760 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0005115 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0005150 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0011675 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0011702 ORPHA:168796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168796 Heart-hand syndrome, Slovenian type HP:0001156 ORPHA:168796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000276 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000303 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000445 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000490 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0001263 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0001999 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0002225 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0002342 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0003191 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0003782 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0008232 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0008734 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0011969 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0012809 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0040171 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0100651 ORPHA:3044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0002069 ORPHA:3044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0008947 ORPHA:3044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0100783 ORPHA:3044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000327 ORPHA:3044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0002373 ORPHA:3044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0008988 ORPHA:3044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0000163 ORPHA:889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0000965 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0000979 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0000988 ORPHA:889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0001025 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0001482 ORPHA:889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0001581 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0001945 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0002633 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0002829 ORPHA:889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0003326 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0010783 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0100758 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:889 Cutaneous small vessel vasculitis HP:0200034 ORPHA:889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0008665 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000212 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000316 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000347 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000356 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000369 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000485 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000695 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000894 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0000938 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0001007 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0001156 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0001433 ORPHA:313855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0001591 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0001978 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0004440 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0002814 ORPHA:313855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0002979 ORPHA:313855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0003175 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0004453 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0005474 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0007642 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0010455 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0011223 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0011800 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0030042 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313855 FGFR2-related bent bone dysplasia HP:0030313 ORPHA:313855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000028 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000269 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000278 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000340 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000347 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000358 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000369 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000414 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000448 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000581 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000821 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001249 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001252 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001263 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001328 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0003189 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0003510 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0012745 ORPHA:3047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000176 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000193 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000252 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001250 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001508 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001510 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001561 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001629 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001631 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0001643 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0002205 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0004209 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0004426 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0005692 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0005990 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0006695 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0007598 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0008188 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0008191 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0009738 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0011968 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0100028 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0100490 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000614 ORPHA:3047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0100648 ORPHA:3047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000144 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000360 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000407 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000483 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000505 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000512 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000518 ORPHA:886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000529 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000545 ORPHA:886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000618 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000639 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000662 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000670 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000682 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000691 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000709 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000716 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000738 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0000739 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0001123 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0001251 ORPHA:886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0001639 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0001751 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0002120 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0003198 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0003457 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0007360 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0007703 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0008499 ORPHA:886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0008568 ORPHA:886 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0010780 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0011025 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0011073 ORPHA:886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:886 Usher syndrome HP:0100543 ORPHA:886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:888 Van der Woude syndrome HP:0000175 ORPHA:888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:888 Van der Woude syndrome HP:0000196 ORPHA:888 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:888 Van der Woude syndrome HP:0000204 ORPHA:888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:888 Van der Woude syndrome HP:0000668 ORPHA:888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:888 Van der Woude syndrome HP:0010286 ORPHA:888 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:888 Van der Woude syndrome HP:0100267 ORPHA:888 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000003 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000008 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000028 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000047 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000048 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000062 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000086 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000104 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000126 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000175 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000239 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000368 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000772 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000776 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0000795 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0001048 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0001177 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0001195 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0001511 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0001539 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0001561 ORPHA:887 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0001601 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0001622 ORPHA:887 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0001671 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0001732 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0002023 ORPHA:887 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0002085 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0002323 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0030680 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0002575 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0002777 ORPHA:887 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0003422 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0005107 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0005108 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0005264 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0006101 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0006501 ORPHA:887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0006703 ORPHA:887 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0008736 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0012732 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:887 VACTERL/VATER association HP:0100335 ORPHA:887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:882 Tyrosinemia type 1 HP:0001402 ORPHA:882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:882 Tyrosinemia type 1 HP:0001744 ORPHA:882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:882 Tyrosinemia type 1 HP:0002240 ORPHA:882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:882 Tyrosinemia type 1 HP:0002909 ORPHA:882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:882 Tyrosinemia type 1 HP:0006463 ORPHA:882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:882 Tyrosinemia type 1 HP:0006554 ORPHA:882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000137 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000470 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000823 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000837 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000879 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000938 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000939 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001510 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001511 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002750 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002967 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0003492 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0004322 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0006610 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0006709 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0008209 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0008222 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0008897 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0012774 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0040072 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0100625 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0008209 ORPHA:881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000218 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000278 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000347 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000365 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000369 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000403 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000465 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000474 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000475 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000708 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000739 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000758 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000786 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000822 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001952 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000869 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000872 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000914 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001328 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001397 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001513 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001531 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001800 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002162 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002705 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002808 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002857 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002910 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0005113 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0005689 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0006438 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0006456 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0007477 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0009759 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0010044 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0010047 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0010510 ORPHA:881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000085 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000086 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000164 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000286 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000476 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000486 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000508 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000545 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000716 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000767 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000842 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000987 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000995 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001004 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001045 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001231 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001385 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001395 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001596 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001631 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001647 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001657 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001658 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001680 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001763 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001812 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001831 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002608 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002611 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002650 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002960 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0003067 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0003186 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0003764 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0004349 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0005603 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0005978 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0007018 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0003077 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0008572 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0009118 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0011307 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0012434 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0100646 ORPHA:881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000150 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0000471 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0001394 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002037 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002613 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002647 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0002861 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0004383 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0004386 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0005294 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0008678 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:881 Turner syndrome HP:0012758 ORPHA:881 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000215 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000219 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000232 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000280 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000316 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000343 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000463 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000470 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000486 ORPHA:884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000506 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000508 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0045075 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000582 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000684 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0000966 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0001252 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0001315 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0002007 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0002023 ORPHA:884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0002714 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0002750 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0003196 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0004322 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0004326 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0005692 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0008070 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0010864 ORPHA:884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0011220 ORPHA:884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:884 Tetrasomy 12p HP:0100736 ORPHA:884 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0000044 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0000232 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0000316 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0000403 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0000486 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0000540 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0000565 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001263 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0000846 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0000939 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001249 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001250 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001257 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001259 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001274 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001319 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001289 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001388 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001510 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0001993 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0002017 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0002155 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0003198 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0003199 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0003236 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0008981 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0003738 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0003750 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0004349 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0005949 ORPHA:261476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0008207 ORPHA:261476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261476 Xp21 deletion syndrome HP:0040019 ORPHA:261476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0000003 ORPHA:3032 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0000110 ORPHA:3032 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0001305 ORPHA:3032 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0001561 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0001562 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0001732 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0002089 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0002566 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0012440 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3032 NPHP3-related Meckel-like syndrome HP:0030146 ORPHA:3032 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0006286 ORPHA:88661 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0011073 ORPHA:88661 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0005216 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0006285 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0006297 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0011084 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0011085 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0025124 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0009102 ORPHA:88661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0000679 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0000685 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0000687 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0006283 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0010299 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0011071 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:88661 Amelogenesis imperfecta HP:0030791 ORPHA:88661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0000112 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0000114 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0000252 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0000316 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0001561 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0001562 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0001622 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0001636 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0002089 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0005562 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0005692 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0007598 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3033 Renal tubular dysgenesis HP:0008660 ORPHA:3033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0007565 ORPHA:137605 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0000708 ORPHA:137605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0000997 ORPHA:137605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0001328 ORPHA:137605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0030052 ORPHA:137605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0000256 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0000736 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0000752 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0000766 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0001012 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0004322 ORPHA:137605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0000365 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0000518 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0000750 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0000787 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0001114 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0001250 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0001252 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0001270 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0001332 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0001634 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0001642 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0002650 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0002667 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0004209 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0004845 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0006671 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0007018 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0007099 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0009588 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0010442 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0030358 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0032077 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0100245 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0100543 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0100615 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0410263 ORPHA:137605 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0001067 ORPHA:137605 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0009734 ORPHA:137605 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0009737 ORPHA:137605 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0100006 ORPHA:137605 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:137605 Legius syndrome HP:0100252 ORPHA:137605 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3034 Delayed membranous cranial ossification HP:0000269 ORPHA:3034 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3034 Delayed membranous cranial ossification HP:0000316 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3034 Delayed membranous cranial ossification HP:0000457 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3034 Delayed membranous cranial ossification HP:0000582 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3034 Delayed membranous cranial ossification HP:0002007 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3034 Delayed membranous cranial ossification HP:0004331 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3034 Delayed membranous cranial ossification HP:0011800 ORPHA:3034 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0000347 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0000582 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0000772 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0001511 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0001539 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0001744 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002089 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002410 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002514 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002566 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002814 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002982 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002986 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0002991 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0006487 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0009816 ORPHA:3035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0100569 ORPHA:3035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000218 ORPHA:3038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000316 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000324 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000343 ORPHA:3038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000369 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000463 ORPHA:3038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000486 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000494 ORPHA:3038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000508 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000577 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000750 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0001249 ORPHA:3038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0007946 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0009908 ORPHA:3038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0000256 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0001482 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0001635 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0001883 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0002757 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0004349 ORPHA:137608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0004374 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0005293 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0007392 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0010566 ORPHA:137608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100013 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100026 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100031 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100559 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100560 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100615 ORPHA:137608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100761 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0100764 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0200034 ORPHA:137608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0000147 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0000822 ORPHA:90970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0000855 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0000956 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0000991 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0001394 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0001397 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0001635 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0001638 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0001681 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0001733 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0001744 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0002635 ORPHA:90970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0003077 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0003198 ORPHA:90970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0003326 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0003712 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0005978 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0009125 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0100578 ORPHA:90970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90970 Primary lipodystrophy HP:0400008 ORPHA:90970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000028 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000055 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000135 ORPHA:950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000194 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000248 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000286 ORPHA:950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000303 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000316 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000327 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000365 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000431 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000457 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000463 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000684 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000858 ORPHA:950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0000995 ORPHA:950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0001156 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0005916 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0001249 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0001597 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0001831 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0002818 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0002983 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0002984 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0040071 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0003022 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0003196 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0003312 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0003416 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0004322 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0005280 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0005616 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0009830 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0010049 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0010579 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0010655 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0010743 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0010807 ORPHA:950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0010978 ORPHA:950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:950 Acrodysostosis HP:0011800 ORPHA:950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0100494 ORPHA:98850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0000939 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0000989 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001433 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001824 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001974 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002014 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002024 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002027 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002039 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002615 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002653 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002716 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002829 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0003155 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0012378 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0025142 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0031284 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0031408 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0031901 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0032155 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0100845 ORPHA:98850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001025 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001409 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001410 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001541 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001873 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001875 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001876 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001903 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001909 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0001971 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002239 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002756 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0002797 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0004377 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0008066 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0011121 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98850 Aggressive systemic mastocytosis HP:0040186 ORPHA:98850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000164 ORPHA:93160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000268 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000765 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000787 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000843 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000944 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0000951 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0001288 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0001373 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0001596 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002007 ORPHA:93160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002148 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002650 ORPHA:93160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002653 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002749 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002757 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002797 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002857 ORPHA:93160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002901 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0002970 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0003272 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0003312 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0003330 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0004322 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0006323 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0009124 ORPHA:93160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0012062 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93160 Hypocalcemic vitamin D-resistant rickets HP:0100670 ORPHA:93160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0001290 ORPHA:456328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000028 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000048 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000054 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000807 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000808 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0001561 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0002093 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0003244 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0040314 ORPHA:456328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000218 ORPHA:456328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000278 ORPHA:456328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0000883 ORPHA:456328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0001382 ORPHA:456328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome HP:0011968 ORPHA:456328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0000338 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001260 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001276 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001288 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001332 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001392 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001409 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001413 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001744 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001901 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002040 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002063 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002067 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002075 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002172 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002240 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002345 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002355 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002453 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002910 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0009830 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0010927 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0012447 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0012751 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0040135 ORPHA:309854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0000252 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0000952 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001639 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0001928 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002078 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002154 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002313 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0002446 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0004337 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0007010 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0008151 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0012343 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0025196 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0025321 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0100513 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000175 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000252 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000262 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000316 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000322 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000340 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000347 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000368 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000377 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000405 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000407 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000426 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000453 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000463 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000494 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000506 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000508 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000520 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000545 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000632 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0000767 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0001182 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0001199 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0001231 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0001363 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0030680 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0002673 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0002857 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0002869 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0003272 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0003298 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0003312 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0004322 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0004452 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0004467 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0006288 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0008388 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0009465 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0009882 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0010034 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0010097 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0011304 ORPHA:949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0011453 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:949 Acrocraniofacial dysostosis HP:0011454 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0005561 ORPHA:98848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0011121 ORPHA:98848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0031408 ORPHA:98848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0100494 ORPHA:98848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0100495 ORPHA:98848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0000939 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0000988 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0000989 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0001025 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0011354 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0012393 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0025081 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0031284 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0031901 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0032155 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0040186 ORPHA:98848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0100845 ORPHA:98848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0001744 ORPHA:98848 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0002240 ORPHA:98848 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0002716 ORPHA:98848 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98848 Indolent systemic mastocytosis HP:0004377 ORPHA:98848 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0004377 ORPHA:98849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0012324 ORPHA:98849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0031901 ORPHA:98849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0100494 ORPHA:98849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0000980 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0000989 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001824 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001873 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001880 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001895 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001897 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001945 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001974 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002315 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0005547 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0012378 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0031020 ORPHA:98849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0000939 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001025 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001279 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001649 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0001744 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002014 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002018 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002027 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002086 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002240 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002615 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002653 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002659 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002665 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002716 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002829 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0002863 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0003326 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0004398 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0004808 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0011897 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0012138 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0012325 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0031284 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0031807 ORPHA:98849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0005550 ORPHA:98849 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0006775 ORPHA:98849 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm HP:0011034 ORPHA:98849 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0000175 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0000238 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0000316 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0000929 ORPHA:945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0001162 ORPHA:945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0001360 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0001362 ORPHA:945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0001539 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0001883 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0002101 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0002269 ORPHA:945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0002414 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0030680 ORPHA:945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:945 Acalvaria HP:0007360 ORPHA:945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0000135 ORPHA:3143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0000820 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0000829 ORPHA:3143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0000872 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0001053 ORPHA:3143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0001596 ORPHA:3143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0002608 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0003011 ORPHA:3143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0008207 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0100647 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3143 Autoimmune polyendocrinopathy type 2 HP:0100651 ORPHA:3143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000028 ORPHA:3144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000175 ORPHA:3144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000256 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000268 ORPHA:3144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000272 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000470 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000773 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000774 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000882 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000895 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000944 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000946 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0000947 ORPHA:3144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0001004 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0001231 ORPHA:3144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0001561 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0001800 ORPHA:3144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0002983 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0003038 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0003312 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0005019 ORPHA:3144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0005616 ORPHA:3144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0008108 ORPHA:3144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0008479 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0008873 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3144 Schneckenbecken dysplasia HP:0012107 ORPHA:3144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0000010 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0000246 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0000508 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0000819 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0001581 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0001618 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0001873 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0001881 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0001903 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0002014 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0002015 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0002094 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0002110 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0002205 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0003473 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0004313 ORPHA:169105 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0010515 ORPHA:169105 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0012735 ORPHA:169105 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0100522 ORPHA:169105 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169105 Good syndrome HP:0100721 ORPHA:169105 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000347 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000405 ORPHA:3145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000494 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000670 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000823 ORPHA:3145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0001249 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0001263 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0001376 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0001939 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0002514 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0004322 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0009738 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0009806 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0010669 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0011069 ORPHA:3145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0001942 ORPHA:941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0002448 ORPHA:941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0012379 ORPHA:941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0000252 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0000750 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0001249 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0001250 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0001257 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0002154 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0003108 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0008947 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0001263 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0030781 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0500230 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0000253 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0000365 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0000729 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0001336 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0002072 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0002079 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0007185 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0008288 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0011344 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0012444 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0012736 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:941 D-glyceric aciduria HP:0100704 ORPHA:941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0000013 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0000130 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0000137 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0000141 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0000252 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0000924 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0000944 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0001182 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0001367 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0001595 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0002289 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0002815 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0002823 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0002970 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0003019 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0003063 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0003272 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0003307 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0004322 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0005930 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0008724 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0009806 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0011964 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3130 Satoyoshi syndrome HP:0200102 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0000218 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0001265 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0001288 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0001319 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0002093 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0003325 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0003327 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0003557 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0003722 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0003803 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0009027 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0010628 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0030198 ORPHA:171436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0000275 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0000347 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0000470 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0000508 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0000767 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0000774 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0001349 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0001371 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0001561 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0002375 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0002515 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0002650 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0002804 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0002827 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0002857 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0002877 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0002970 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0003198 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0003236 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0003306 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0003307 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0003798 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0011968 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0030196 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0030200 ORPHA:171436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171436 Typical nemaline myopathy HP:0002808 ORPHA:171436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0003324 ORPHA:171433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0003798 ORPHA:171433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0006829 ORPHA:171433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0000765 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0001265 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0001270 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0001371 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0001558 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0001561 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0002015 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0002058 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0002355 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0002375 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0002878 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0003202 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0003458 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0003803 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0005855 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0010628 ORPHA:171433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0000316 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0000343 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0000369 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0000602 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0001284 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0001349 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0001622 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0002705 ORPHA:171433 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0002804 ORPHA:171433 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171433 Intermediate nemaline myopathy HP:0001638 ORPHA:171433 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0000765 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0001270 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0001371 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0001558 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0001561 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0001623 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0002015 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0002375 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0002878 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0003202 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0003327 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0003798 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0003803 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0005855 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0006829 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0009025 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0010628 ORPHA:171430 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0000047 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0000054 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0000239 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0000369 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0000602 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0000775 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0000883 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0001181 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0001349 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0001622 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0002089 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0002804 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171430 Severe congenital nemaline myopathy HP:0007514 ORPHA:171430 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0000252 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0000325 ORPHA:939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0000340 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0000343 ORPHA:939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0000347 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0001250 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0001511 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0002119 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0002120 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0002514 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0003128 ORPHA:939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0000044 ORPHA:939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0007360 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0007370 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0008551 ORPHA:939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000252 ORPHA:3132 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0001263 ORPHA:3132 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0001999 ORPHA:3132 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0005432 ORPHA:3132 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000135 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000218 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000340 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000347 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000400 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000411 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000426 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000444 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000750 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0001363 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0002650 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0002654 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0002987 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0003065 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0004313 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0005001 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0006380 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0012219 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0012490 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0040238 ORPHA:3132 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000028 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000233 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000316 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000368 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000455 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000490 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000510 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000582 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000608 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000648 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000670 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000692 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000964 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0001007 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0001193 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0001583 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0001772 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0002313 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0002553 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0002827 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0002843 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0003487 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0004315 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0004322 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0005659 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0006895 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0007034 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0007105 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0009553 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0011431 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0011448 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0031008 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3132 Say-Barber-Miller syndrome HP:0045075 ORPHA:3132 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000023 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000028 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000048 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000051 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000054 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000280 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000286 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000343 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000368 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000465 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000470 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000486 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000494 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000508 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000768 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000879 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0000973 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0001256 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0001363 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0001537 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0001540 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0002162 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0003312 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0005692 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0006297 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0006610 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0008070 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0011084 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0012028 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0012810 ORPHA:3134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0002342 ORPHA:3134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3134 SCARF syndrome HP:0002557 ORPHA:3134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0000023 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0000767 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0000944 ORPHA:935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0001732 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0001888 ORPHA:935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0001903 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0002024 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0002205 ORPHA:935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0002213 ORPHA:935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0002251 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0003085 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0004349 ORPHA:935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0004422 ORPHA:935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0004430 ORPHA:935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0004432 ORPHA:935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0005374 ORPHA:935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0011364 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0100543 ORPHA:935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:930 Idiopathic achalasia HP:0002015 ORPHA:930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:930 Idiopathic achalasia HP:0001824 ORPHA:930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:930 Idiopathic achalasia HP:0002020 ORPHA:930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:930 Idiopathic achalasia HP:0012387 ORPHA:930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:930 Idiopathic achalasia HP:0012735 ORPHA:930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:930 Idiopathic achalasia HP:0100749 ORPHA:930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:930 Idiopathic achalasia HP:0002100 ORPHA:930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:930 Idiopathic achalasia HP:0004395 ORPHA:930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:930 Idiopathic achalasia HP:0030828 ORPHA:930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:930 Idiopathic achalasia HP:0031085 ORPHA:930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000280 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000365 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000486 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000518 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000618 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000639 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0000717 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001004 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001249 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001250 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001252 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001257 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001263 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001321 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0001640 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002019 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002020 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002120 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002169 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002321 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002376 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002445 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0002650 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0006532 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0009830 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0010471 ORPHA:3137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0011276 ORPHA:3137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency HP:0012471 ORPHA:3137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0000023 ORPHA:932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0000256 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0000343 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0000347 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0000463 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0000470 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0000474 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0000476 ORPHA:932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0000774 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0001537 ORPHA:932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0001561 ORPHA:932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0001789 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0002007 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0030680 ORPHA:932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0002652 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0002983 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0003196 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0003336 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0003510 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0004348 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0006703 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0010306 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:932 Achondrogenesis HP:0012368 ORPHA:932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0003063 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0004050 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0004299 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0004397 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0009751 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0009882 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0011675 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0100490 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0100783 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0001167 ORPHA:3138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0001231 ORPHA:3138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0002221 ORPHA:3138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0004370 ORPHA:3138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0006495 ORPHA:3138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0000028 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0000130 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0000144 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0000823 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0001513 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0002557 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0003019 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0004322 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0008736 ORPHA:3138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0000089 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0000668 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0000768 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0000889 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0000912 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0001162 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0005916 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0001601 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0001629 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0001800 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0002021 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0002023 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3138 Ulnar-mammary syndrome HP:0002818 ORPHA:3138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:931 Acheiropodia HP:0000944 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:931 Acheiropodia HP:0002990 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:931 Acheiropodia HP:0003974 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:931 Acheiropodia HP:0003982 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:931 Acheiropodia HP:0004050 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:931 Acheiropodia HP:0005792 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:931 Acheiropodia HP:0005930 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:931 Acheiropodia HP:0009813 ORPHA:931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0000975 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0001182 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0001810 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0001842 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0002645 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0002797 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0002815 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0003028 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0003103 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0003202 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0003272 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0003307 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0004349 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0005930 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:970 Hereditary sensory and autonomic neuropathy type 2 HP:0008391 ORPHA:970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:972 Hereditary continuous muscle fiber activity HP:0000776 ORPHA:972 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:972 Hereditary continuous muscle fiber activity HP:0001250 ORPHA:972 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:972 Hereditary continuous muscle fiber activity HP:0001251 ORPHA:972 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:972 Hereditary continuous muscle fiber activity HP:0001260 ORPHA:972 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:972 Hereditary continuous muscle fiber activity HP:0001350 ORPHA:972 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:972 Hereditary continuous muscle fiber activity HP:0002064 ORPHA:972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:972 Hereditary continuous muscle fiber activity HP:0003236 ORPHA:972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:972 Hereditary continuous muscle fiber activity HP:0003457 ORPHA:972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:972 Hereditary continuous muscle fiber activity HP:0003803 ORPHA:972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:972 Hereditary continuous muscle fiber activity HP:0100022 ORPHA:972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0000083 ORPHA:971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0000175 ORPHA:971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0000347 ORPHA:971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0000478 ORPHA:971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0000504 ORPHA:971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0001171 ORPHA:971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0002992 ORPHA:971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0040071 ORPHA:971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0006501 ORPHA:971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0008678 ORPHA:971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:971 Acrorenal syndrome HP:0012210 ORPHA:971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0001876 ORPHA:86843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0011974 ORPHA:86843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0001324 ORPHA:86843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0012129 ORPHA:86843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0012143 ORPHA:86843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0012378 ORPHA:86843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0031020 ORPHA:86843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0003419 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0004808 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0004820 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0005528 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0031385 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0031386 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0100827 ORPHA:86843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86843 Acute panmyelosis with myelofibrosis HP:0001744 ORPHA:86843 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0002863 ORPHA:86841 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0001877 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0001894 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0001972 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0012133 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0012143 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0025435 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0031020 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0031385 ORPHA:86841 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0001882 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0001892 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0004808 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0005528 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0011273 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0011992 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0012129 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0012148 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0031035 ORPHA:86841 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0010896 ORPHA:3129 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0010897 ORPHA:3129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0000486 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0000648 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0000712 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0001251 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0001256 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0001263 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0001270 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0001639 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0001642 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0002069 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0002273 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0002360 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0002371 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0002465 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0007875 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0008610 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0008947 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0010522 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0011727 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3129 Sarcosinemia HP:0100022 ORPHA:3129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0002863 ORPHA:98826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0010972 ORPHA:98826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0001972 ORPHA:98826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0012133 ORPHA:98826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0012150 ORPHA:98826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0012378 ORPHA:98826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0001895 ORPHA:98826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0001897 ORPHA:98826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0002094 ORPHA:98826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0005528 ORPHA:98826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0030872 ORPHA:98826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0001873 ORPHA:98826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0001875 ORPHA:98826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98826 Refractory anemia HP:0001892 ORPHA:98826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98827 Unclassified myelodysplastic syndrome HP:0002863 ORPHA:98827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98827 Unclassified myelodysplastic syndrome HP:0001871 ORPHA:98827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98827 Unclassified myelodysplastic syndrome HP:0012148 ORPHA:98827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98827 Unclassified myelodysplastic syndrome HP:0012378 ORPHA:98827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98827 Unclassified myelodysplastic syndrome HP:0045040 ORPHA:98827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98827 Unclassified myelodysplastic syndrome HP:0001974 ORPHA:98827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98827 Unclassified myelodysplastic syndrome HP:0002960 ORPHA:98827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98827 Unclassified myelodysplastic syndrome HP:0005528 ORPHA:98827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98827 Unclassified myelodysplastic syndrome HP:0030166 ORPHA:98827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98827 Unclassified myelodysplastic syndrome HP:0004808 ORPHA:98827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000023 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000028 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000160 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000233 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000252 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000348 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000444 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000494 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000508 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000512 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000649 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000678 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000768 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000774 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000790 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0000823 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0001053 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0001156 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0001249 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0001250 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0001263 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0001511 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0002230 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0002650 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0002808 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0002983 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0003196 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0004209 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0005048 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0009623 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0009811 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0010049 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0010579 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0100542 ORPHA:3121 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0100734 ORPHA:3121 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3121 Ruvalcaba syndrome HP:0200055 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0000160 ORPHA:969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0000179 ORPHA:969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0000311 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0000343 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0000414 ORPHA:969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0000463 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0000527 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0000534 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0000762 ORPHA:969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0001156 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0001387 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0001609 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0002750 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0002823 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0003196 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0003300 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0003510 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0004279 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0005900 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0005930 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0010049 ORPHA:969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:969 Acromicric dysplasia HP:0200055 ORPHA:969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0001156 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0001387 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0002167 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0002644 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0002650 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0002827 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0002999 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0003028 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0003042 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0003086 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0006011 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0006014 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0007598 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0008368 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0008890 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0009778 ORPHA:968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0010049 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:968 Acromesomelic dysplasia, Hunter-Thompson type HP:0100543 ORPHA:968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0002161 ORPHA:3124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0011021 ORPHA:3124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0001507 ORPHA:3124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0003297 ORPHA:3124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0004322 ORPHA:3124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0001250 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0001256 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0001264 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0001268 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0001337 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0001987 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0002066 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0002936 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0003131 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0011966 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0012758 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0032397 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0100543 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3124 Saccharopinuria HP:0500151 ORPHA:3124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000040 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000098 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000158 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000179 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000276 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000280 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000293 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000303 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000337 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000400 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000445 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000818 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000830 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000845 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000975 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001072 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001176 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001182 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001386 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001769 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001869 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0002758 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0002829 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0003859 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0004099 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0006191 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0011760 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0012378 ORPHA:963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000044 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000164 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000664 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000687 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000716 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000739 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000819 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000822 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001231 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001609 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0002007 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0002076 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0002230 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0002808 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0003401 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0003416 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0008388 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0010535 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0012802 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0100021 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0100540 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0100607 ORPHA:963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000802 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0000956 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001061 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001639 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0001653 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0006767 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0007440 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0030265 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0100518 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0100786 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:963 Acromegaly HP:0100829 ORPHA:963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0007359 ORPHA:98820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0011185 ORPHA:98820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0002069 ORPHA:98820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0025373 ORPHA:98820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0031951 ORPHA:98820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0000708 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0000729 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0000980 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0001249 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0002349 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0002367 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0002384 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0002427 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0003401 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0008765 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0010841 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0012005 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0012469 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0012531 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0031284 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0032046 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0100543 ORPHA:98820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0002126 ORPHA:98820 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0002521 ORPHA:98820 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0007206 ORPHA:98820 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98820 Familial focal epilepsy with variable foci HP:0011171 ORPHA:98820 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0000316 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0000414 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0001249 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0001263 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0001837 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0002119 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0002714 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0004209 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0004322 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0004474 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0007560 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0008386 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0009748 ORPHA:262767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0001274 ORPHA:262767 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0001305 ORPHA:262767 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0002079 ORPHA:262767 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0001250 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0001276 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0001336 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0001561 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0001999 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0002365 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0002804 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0002871 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0004887 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0006955 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0011451 ORPHA:166063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0000340 ORPHA:166063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0000347 ORPHA:166063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166063 Pontocerebellar hypoplasia type 4 HP:0011800 ORPHA:166063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0000520 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0000929 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0001274 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0001360 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0001561 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0002683 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0005466 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0007360 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0012443 ORPHA:563612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0000369 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0005280 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0009800 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0010627 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0011756 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0011821 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563612 Isolated exencephaly HP:0030244 ORPHA:563612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0010972 ORPHA:86839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0012378 ORPHA:86839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0001017 ORPHA:86839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0001945 ORPHA:86839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0001962 ORPHA:86839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0002875 ORPHA:86839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0000573 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0001873 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0001892 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0001974 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0002653 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0004808 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0005528 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0005561 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0010741 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0010876 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0012116 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0012136 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0012148 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0012150 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0025065 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86839 Refractory anemia with excess blasts HP:0031035 ORPHA:86839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000407 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001251 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001263 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001270 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001738 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001999 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0002342 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0003693 ORPHA:456312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000219 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000248 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000309 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000577 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000819 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001155 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001310 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001319 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001508 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001530 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001760 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001771 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0002353 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0002460 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0005484 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0009623 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0010628 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0100307 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0100807 ORPHA:456312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000049 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000316 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000821 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000823 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001374 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001558 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001772 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0001844 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0002123 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0002240 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0003431 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0003448 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0006276 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0008366 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0009463 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0009464 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0009473 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0012418 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0030146 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0030951 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease HP:0100800 ORPHA:456312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000085 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0001172 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0002818 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0004712 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0004736 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0006501 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0009650 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0009778 ORPHA:959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000015 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000405 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000407 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000486 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000505 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000588 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0001177 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0001199 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0001852 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0003022 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0004059 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0007766 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0008678 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0010059 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0010109 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0012745 ORPHA:959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000076 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000286 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000316 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000482 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000508 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000518 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000567 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000568 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000589 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000612 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0000639 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0001636 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0001770 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0001883 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0002251 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0002948 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0003422 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0005792 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0006101 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:959 Acro-renal-ocular syndrome HP:0008897 ORPHA:959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0001250 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002371 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002381 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002463 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0011098 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0025373 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0030391 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0031491 ORPHA:98818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0000708 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0000729 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002121 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002376 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0007018 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0007086 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0009088 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0011153 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0011198 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0012015 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0012018 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0025190 ORPHA:98818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0000712 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0000716 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0000718 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0000736 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0000739 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0000752 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0001350 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002066 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002069 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002300 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002354 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002359 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002360 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0002384 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0003376 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0003698 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0007270 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0011166 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0011169 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0031951 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0032671 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0100710 ORPHA:98818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0030057 ORPHA:98818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98818 Landau-Kleffner syndrome HP:0200134 ORPHA:98818 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001266 ORPHA:98811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001332 ORPHA:98811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0007166 ORPHA:98811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001249 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001250 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001304 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0002121 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0003401 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0004305 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0006801 ORPHA:98811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0000718 ORPHA:98811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0000737 ORPHA:98811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001251 ORPHA:98811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001328 ORPHA:98811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0002072 ORPHA:98811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0001256 ORPHA:98811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98811 Paroxysmal exertion-induced dyskinesia HP:0002061 ORPHA:98811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000023 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000047 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000160 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000164 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000175 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000233 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000238 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000256 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000268 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000269 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000277 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000280 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000293 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000294 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000316 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000343 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000347 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000365 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000369 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000431 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000445 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000463 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000470 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000494 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000506 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000518 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000545 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000574 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000612 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000664 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000704 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000768 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000823 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000929 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000938 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000939 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0000958 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001072 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001156 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001231 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001508 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001537 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001608 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001629 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001643 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001650 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001718 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001744 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001831 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0001999 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002205 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002208 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002230 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002240 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002308 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002315 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0030680 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002566 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002645 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002650 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002652 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002653 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002688 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002691 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002714 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002757 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002797 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002808 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002829 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0002999 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0003396 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0004322 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0004331 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0004586 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0005562 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0005692 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0006487 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0008424 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0009830 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0009882 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0010669 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0010807 ORPHA:955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0011305 ORPHA:955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0100670 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0100790 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:955 Hajdu-Cheney syndrome HP:0200042 ORPHA:955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3111 Rotor syndrome HP:0000952 ORPHA:3111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3111 Rotor syndrome HP:0002908 ORPHA:3111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3111 Rotor syndrome HP:0012379 ORPHA:3111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3111 Rotor syndrome HP:0002904 ORPHA:3111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3111 Rotor syndrome HP:0010473 ORPHA:3111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3111 Rotor syndrome HP:0031811 ORPHA:3111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3111 Rotor syndrome HP:0001046 ORPHA:3111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3111 Rotor syndrome HP:0032106 ORPHA:3111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3111 Rotor syndrome HP:0000989 ORPHA:3111 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3111 Rotor syndrome HP:0031137 ORPHA:3111 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000202 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000218 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000275 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000322 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000347 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000368 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000470 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000494 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000768 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000776 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000813 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000882 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000883 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000889 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0000912 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0001171 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0001511 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0001562 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0001839 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0002089 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0002101 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0002575 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0002650 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0002808 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0002827 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0002937 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0002984 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0003022 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0003316 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0003762 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0004408 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0006101 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0006381 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0006426 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0008678 ORPHA:958 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0010295 ORPHA:958 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:958 Acro-renal-mandibular syndrome HP:0010669 ORPHA:958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0000175 ORPHA:957 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0000767 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0001199 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0001256 ORPHA:957 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0002414 ORPHA:957 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0002705 ORPHA:957 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0005048 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0006101 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0008368 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0009882 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0011304 ORPHA:957 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:957 Acropectorovertebral dysplasia HP:0100490 ORPHA:957 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0000164 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0000190 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0000668 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0000698 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0001162 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0001231 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0001792 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0001800 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0002006 ORPHA:952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0003502 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0004209 ORPHA:952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0006288 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0006315 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0008388 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0008404 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0009738 ORPHA:952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0010557 ORPHA:952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0100797 ORPHA:952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:952 Acrofacial dysostosis, Weyers type HP:0200055 ORPHA:952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0000639 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0001284 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0001761 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0001762 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002066 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002070 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002174 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002312 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002317 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002355 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002495 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002650 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002751 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0003431 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0003474 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0003693 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0007131 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0007141 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0007328 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0007340 ORPHA:3115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002359 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002839 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0002857 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0003202 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0003487 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3115 Roussy-Lévy syndrome HP:0008954 ORPHA:3115 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563609 Isolated anencephaly HP:0000835 ORPHA:563609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563609 Isolated anencephaly HP:0001511 ORPHA:563609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563609 Isolated anencephaly HP:0000776 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563609 Isolated anencephaly HP:0001539 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563609 Isolated anencephaly HP:0009800 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563609 Isolated anencephaly HP:0010516 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563609 Isolated anencephaly HP:0030244 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563609 Isolated anencephaly HP:0410030 ORPHA:563609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0001332 ORPHA:98810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0007166 ORPHA:98810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0001266 ORPHA:98810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0002072 ORPHA:98810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0002487 ORPHA:98810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0004305 ORPHA:98810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0000211 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0000473 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0001387 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0002063 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0002094 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0002167 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0003324 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0025401 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia HP:0100660 ORPHA:98810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0000099 ORPHA:93126 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0000083 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0000093 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0002907 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0003259 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0011944 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0012213 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0032230 ORPHA:93126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0000096 ORPHA:93126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0000951 ORPHA:93126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0001945 ORPHA:93126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0002086 ORPHA:93126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0008653 ORPHA:93126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0000478 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0000979 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0001609 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0001919 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0001970 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0002027 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0002087 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0002094 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0002829 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0003493 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0004930 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0012089 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0012587 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0012593 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0012735 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0040223 ORPHA:93126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0000155 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0001626 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0001733 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0011024 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0032018 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0100532 ORPHA:93126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0002955 ORPHA:93126 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:93126 Pauci-immune glomerulonephritis HP:0032616 ORPHA:93126 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0001892 ORPHA:98892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0002020 ORPHA:98892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0002021 ORPHA:98892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0002650 ORPHA:98892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0100790 ORPHA:98892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0000963 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0001382 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0001643 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0001654 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0001659 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0007165 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0007359 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0012639 ORPHA:98892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0004942 ORPHA:98892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0002999 ORPHA:98892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98892 Periventricular nodular heterotopia HP:0003834 ORPHA:98892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0000282 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001873 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001945 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002014 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002315 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002910 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0003326 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0025258 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0025439 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0031691 ORPHA:319213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0000083 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0000707 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0000988 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001259 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001289 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001882 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001888 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001942 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001974 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002013 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002018 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002907 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0003645 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0007430 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0011227 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0011896 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0025435 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0031273 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0031364 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0040186 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0100520 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0100749 ORPHA:319213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0000613 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0000739 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0000975 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0000979 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001250 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001268 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001324 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0001662 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002015 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002069 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002098 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002181 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002322 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002329 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0002615 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0004787 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0009830 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0012384 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0012819 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0025145 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0030139 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0030830 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0031246 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0032043 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0032155 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0100539 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319213 Lujo hemorrhagic fever HP:0100750 ORPHA:319213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0000127 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0000841 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0000848 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0000859 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001960 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0002900 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0004727 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0008619 ORPHA:89938 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001252 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001270 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001324 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001508 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001518 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001561 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001622 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0002150 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0002902 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0002917 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0003081 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0003113 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0003527 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0012622 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0025335 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0031936 ORPHA:89938 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0000121 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0000712 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001525 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001919 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0001944 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0002013 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0002312 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0003774 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0040288 ORPHA:89938 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0000325 ORPHA:89938 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0000411 ORPHA:89938 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:89938 Bartter syndrome type 4 HP:0000822 ORPHA:89938 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0000529 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0000543 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0000551 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0000603 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0000648 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0007663 ORPHA:98890 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0000639 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0000712 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0000762 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0001249 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0001266 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0002066 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0002075 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0002080 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0003487 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0012164 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98890 Early-onset X-linked optic atrophy HP:0012638 ORPHA:98890 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0000117 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0002148 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0002748 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0003127 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0003155 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0006490 ORPHA:89936 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0000694 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0000897 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0001510 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0002653 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0002829 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0002857 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0002970 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0002979 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0003498 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0003856 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0004349 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0005930 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0006487 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0008117 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0008144 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0010299 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0025335 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0030757 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0031936 ORPHA:89936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0000920 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0000923 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0001363 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0001369 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0001376 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0002007 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0002869 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0006432 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0008442 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0012449 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0025369 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0100686 ORPHA:89936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0000407 ORPHA:89936 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0002308 ORPHA:89936 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0005789 ORPHA:89936 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:89936 X-linked hypophosphatemia HP:0100658 ORPHA:89936 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002148 ORPHA:89937 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0003109 ORPHA:89937 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0001324 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0001510 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0001891 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002653 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002748 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002749 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002979 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0003155 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0012378 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0030757 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0100512 ORPHA:89937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0020110 ORPHA:89937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:89937 Autosomal dominant hypophosphatemic rickets HP:0002901 ORPHA:89937 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000316 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000431 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000445 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000463 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001156 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002983 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0003196 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0004279 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0008736 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0011800 ORPHA:3107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000028 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000059 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000060 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000064 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000168 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000212 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000256 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000278 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000286 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000343 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000347 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000520 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000527 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000582 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000637 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000767 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001537 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002007 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002705 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002714 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002937 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0003312 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0003510 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0004209 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0004322 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0005280 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0007665 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0008501 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0010297 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0010807 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0011220 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0012905 ORPHA:3107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000023 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000036 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000039 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000047 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000322 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000358 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000365 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000369 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000470 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000486 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000494 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000508 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000592 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000668 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000674 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000677 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000768 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0000960 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001249 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001263 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001328 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001385 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0001596 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002650 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002673 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002812 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0002827 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0003042 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0005306 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0005743 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0006101 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0008402 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0010733 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0011069 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0040036 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0100490 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0100541 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3107 Autosomal dominant Robinow syndrome HP:0100798 ORPHA:3107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000505 ORPHA:909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001118 ORPHA:909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0012379 ORPHA:909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000543 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000639 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000649 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000708 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000762 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000939 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001138 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001167 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001249 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001250 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001251 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001257 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001260 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001288 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001317 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001328 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001332 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001347 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001761 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002028 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002071 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002310 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002385 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002453 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002992 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0003487 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0003693 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0005109 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0006958 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0007256 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0007272 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0007377 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0008046 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0009830 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0010874 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0011931 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0012758 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0012896 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0030890 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0100543 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0100872 ORPHA:909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000464 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000492 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000520 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000648 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000713 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000716 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000717 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000718 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000736 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000738 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000821 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0000938 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001081 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001155 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001272 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0001300 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002151 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002171 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002283 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002322 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002423 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002659 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002823 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002942 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0004416 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0005181 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0006480 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0006579 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0007018 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0007305 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0007495 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0007922 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0008516 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0009811 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0011994 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0012075 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0012706 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0012707 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0031589 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0040078 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0100321 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0200125 ORPHA:909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002088 ORPHA:909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002196 ORPHA:909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0002313 ORPHA:909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0003474 ORPHA:909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:909 Cerebrotendinous xanthomatosis HP:0010530 ORPHA:909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000053 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000246 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000256 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000275 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000276 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000303 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000388 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000389 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000411 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000486 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000717 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0000739 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0001250 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0001252 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0001388 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0001634 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0001763 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0002003 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0002007 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0002020 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0002120 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0002167 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0002342 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0003564 ORPHA:908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0004970 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0007018 ORPHA:908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:908 Fragile X syndrome HP:0100716 ORPHA:908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0000077 ORPHA:3109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0000085 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0000086 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0000122 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0000151 ORPHA:3109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0002948 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0003312 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0003422 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0005107 ORPHA:3109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3109 Mayer-Rokitansky-Küster-Hauser syndrome HP:0008726 ORPHA:3109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0000140 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0000716 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0000718 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0000952 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0000978 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0000989 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001155 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001249 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001260 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001369 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001386 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001394 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001397 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001508 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001744 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001824 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001873 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0001903 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0002240 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0002312 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0002355 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0002653 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0002756 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0002829 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0002910 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0003418 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0004324 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0006554 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0008994 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0012115 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0030214 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0200032 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:905 Wilson disease HP:0200119 ORPHA:905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001263 ORPHA:480880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002342 ORPHA:480880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000119 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000453 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000478 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001305 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002023 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002079 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002536 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0004322 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0007483 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0008947 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0100259 ORPHA:480880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000110 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000126 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000164 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000175 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000212 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000218 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000219 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000248 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000324 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000341 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000343 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000365 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000368 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000369 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000431 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000448 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000454 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000483 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000486 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000494 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000506 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000518 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000540 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000545 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000582 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000692 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000823 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000938 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000960 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0000998 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001182 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001238 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001250 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001320 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001321 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001374 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001376 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001385 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001388 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001631 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001638 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001643 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001761 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001763 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001773 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001822 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001845 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002098 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002119 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002198 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002212 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002355 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002365 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002557 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002650 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002664 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0002944 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0004095 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0004298 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0005272 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0005280 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0005722 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0007360 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0010499 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0011220 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0011968 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0012444 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0012471 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0012745 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0012810 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0030925 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0030928 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0031508 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0100890 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0200055 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0200117 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0410026 ORPHA:480880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000010 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000014 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000015 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000023 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000025 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000028 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000044 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000075 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000076 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000083 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000089 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000093 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000121 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000125 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000147 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000154 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000158 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000179 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000212 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000232 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000252 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000275 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000280 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000286 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000307 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000337 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000343 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000347 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000348 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000368 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000389 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000400 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000407 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000411 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000431 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000464 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000485 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000486 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000501 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000505 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000518 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000545 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000581 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000627 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000632 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000635 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000668 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000670 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000682 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000689 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000691 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000716 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000717 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000722 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000739 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000767 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000787 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000821 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000822 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000826 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000938 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000939 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0000960 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001052 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001081 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001136 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001181 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001231 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001249 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001251 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001252 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001257 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001260 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001288 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001297 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001310 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001337 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001347 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001361 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001387 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001388 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001513 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001531 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001537 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001582 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001608 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001609 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001618 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001626 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001629 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001631 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001634 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001635 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001636 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001639 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001640 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001642 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001643 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001645 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001647 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001653 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001658 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001671 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001763 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001800 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001822 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0001969 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002017 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002019 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002020 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002024 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002027 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002035 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002071 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002120 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002141 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002150 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002167 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002183 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002205 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002253 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002308 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002376 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002575 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002623 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002637 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002644 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002650 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002750 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002808 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002829 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002857 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002974 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0002999 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0003028 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0003072 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0003119 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0003196 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0003198 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0003236 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0003298 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0003307 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0003312 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0003422 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0004209 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0004295 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0004305 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0004306 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0004322 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0004381 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0004398 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0004428 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0004969 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0005113 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0005344 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0005562 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0005692 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0005978 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0006482 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0007018 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0007372 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0007477 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0007495 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0007720 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0007957 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0008053 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0008499 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0008661 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0008736 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0010526 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0010662 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0010669 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0010780 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0010807 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0010880 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0011001 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0012433 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0012639 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0100025 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0100240 ORPHA:904 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0100539 ORPHA:904 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0100545 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0100613 ORPHA:904 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0100659 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0100785 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0100817 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:904 Williams syndrome HP:0200021 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0000238 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0000648 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0001321 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0002085 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0002282 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0002365 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0002500 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0007260 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0011344 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0012447 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0032398 ORPHA:352682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0001250 ORPHA:352682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0003457 ORPHA:352682 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000112 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000140 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000225 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000246 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000388 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000389 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000421 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000491 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000498 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000509 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000778 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000964 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000967 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000978 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0000979 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001025 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001287 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001328 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001369 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001645 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001873 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001875 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001878 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001879 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001888 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001903 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001935 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0001945 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002028 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002037 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002094 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002170 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002205 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002248 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002488 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002573 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002633 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002664 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002665 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002721 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0002960 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0003010 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0005558 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0006510 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0006535 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0007420 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0009830 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0011029 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0011675 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0011869 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0011875 ORPHA:906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0012378 ORPHA:906 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0100749 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0100774 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0100806 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0100820 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:906 Wiskott-Aldrich syndrome HP:0200042 ORPHA:906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:901 Wells syndrome HP:0000989 ORPHA:901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:901 Wells syndrome HP:0100658 ORPHA:901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:901 Wells syndrome HP:0000969 ORPHA:901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:901 Wells syndrome HP:0001880 ORPHA:901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:901 Wells syndrome HP:0008066 ORPHA:901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:901 Wells syndrome HP:0200037 ORPHA:901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:901 Wells syndrome HP:0001945 ORPHA:901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:901 Wells syndrome HP:0002829 ORPHA:901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:901 Wells syndrome HP:0002633 ORPHA:901 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0000640 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0000716 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0000739 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0001260 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0001618 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002019 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002066 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002068 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002070 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002073 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002136 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002172 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002174 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002310 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002359 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0012332 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002494 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002530 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0004926 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0005341 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0007256 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0008652 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0010307 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0010536 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0010545 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0012658 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0012670 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0030015 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0030880 ORPHA:227510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0000741 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0001300 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002063 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002067 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0002322 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227510 Multiple system atrophy, cerebellar type HP:0100595 ORPHA:227510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000024 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000071 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000083 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000093 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000126 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000163 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000246 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000366 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000388 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000389 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000407 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000421 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000488 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000505 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000520 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000763 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000790 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000822 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000864 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000873 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000979 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0000988 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0001250 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0001287 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0001681 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0001701 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0001733 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0001824 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0001945 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002017 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002027 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002091 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002093 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002102 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002105 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002113 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002205 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002206 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002239 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002301 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002315 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002633 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002637 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002829 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002955 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0002960 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0003326 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0003565 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0004936 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0005214 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0006510 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0006535 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0006824 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0009830 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0011227 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0011675 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0012378 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0012649 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0012735 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0100533 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0100539 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0100749 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0100758 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0100820 ORPHA:900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0200034 ORPHA:900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:900 Granulomatosis with polyangiitis HP:0200042 ORPHA:900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002269 ORPHA:98889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0032407 ORPHA:98889 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000750 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001249 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001250 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001257 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001263 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001328 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001347 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001371 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002392 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002463 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0005684 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0007359 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0008947 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0012014 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0012017 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0020190 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0030319 ORPHA:98889 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000252 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000347 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000365 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000453 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000639 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000767 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001260 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001310 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001320 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001349 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0001511 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002015 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002020 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002061 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002104 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002307 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002385 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002509 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002510 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0002835 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0007024 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0007033 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0007301 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0010808 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0011157 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0011755 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0011968 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0012015 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0012469 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0410011 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:903 Von Willebrand disease HP:0001633 ORPHA:903 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:903 Von Willebrand disease HP:0001872 ORPHA:903 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:903 Von Willebrand disease HP:0001928 ORPHA:903 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:903 Von Willebrand disease HP:0004097 ORPHA:903 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:903 Von Willebrand disease HP:0005293 ORPHA:903 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:903 Von Willebrand disease HP:0011869 ORPHA:903 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000768 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002187 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002751 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0004322 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0006462 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0011964 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0012899 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0012903 ORPHA:3101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001621 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002015 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002527 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0003712 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0005638 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0008422 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0009053 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0100288 ORPHA:3101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000565 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001265 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001284 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001840 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002540 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0002857 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0003199 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0004568 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0007156 ORPHA:3101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000160 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000164 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000294 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000369 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000470 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0000581 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001373 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001376 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001540 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0001620 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3101 Richieri Costa-da Silva syndrome HP:0012368 ORPHA:3101 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000135 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000444 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000518 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000765 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000939 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0001533 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0001608 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0002209 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0002211 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0002216 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0003777 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0004322 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0007495 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0010721 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0100578 ORPHA:902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000035 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000144 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000275 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000855 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000934 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000962 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0001635 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0001658 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0001838 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0002621 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0003202 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0004415 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0005978 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0007618 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0007703 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0008065 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0009125 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0010468 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0011001 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0100585 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0100679 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0200042 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0200055 ORPHA:902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000822 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0000869 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0001387 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0001601 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0002664 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0002672 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0002858 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0002860 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0002861 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0002890 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0003002 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0005268 ORPHA:902 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0009726 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0012056 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0012060 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0100242 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0100526 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0100615 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0100649 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0100659 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:902 Werner syndrome HP:0100833 ORPHA:902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000028 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000040 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0008665 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000113 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000175 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000204 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000218 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000248 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000252 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000272 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000316 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000347 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000387 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000430 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000470 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000501 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000518 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000520 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000568 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000592 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0000639 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0001156 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0001239 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0001249 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0001263 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0001363 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0001561 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0001622 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0001852 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0001873 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0030680 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0002817 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0002974 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0002984 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0004209 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0005011 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0005048 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0005876 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0006101 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0006380 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0006443 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0006487 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0007452 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0007598 ORPHA:3103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0008070 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0008572 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0008846 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0008897 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0009466 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0009601 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0009623 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0009829 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0009891 ORPHA:3103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3103 Roberts syndrome HP:0009943 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0001347 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0002315 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0002344 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0002922 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0007305 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0030890 ORPHA:59298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0000565 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0000651 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0001250 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0001251 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0001298 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0001324 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0002013 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0002018 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0002172 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0002321 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0002516 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0011448 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59298 Schilder disease HP:0012229 ORPHA:59298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0000162 ORPHA:3104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0000164 ORPHA:3104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0000175 ORPHA:3104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0000275 ORPHA:3104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0000347 ORPHA:3104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0005916 ORPHA:3104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0040071 ORPHA:3104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0004209 ORPHA:3104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0001180 ORPHA:3104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3104 Robin sequence-oligodactyly syndrome HP:0003312 ORPHA:3104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0001945 ORPHA:319218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0002014 ORPHA:319218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0010702 ORPHA:319218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0020071 ORPHA:319218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0100749 ORPHA:319218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0001882 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0001888 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0001892 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0002013 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0002015 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0002018 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0002027 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0002239 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0002249 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0002315 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0004396 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0012115 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0012735 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0025143 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0025439 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0040186 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0100806 ORPHA:319218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0001254 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0001735 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0001873 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0002094 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0002829 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0005521 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319218 Ebola hemorrhagic fever HP:0100247 ORPHA:319218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98880 Familial afibrinogenemia HP:0000225 ORPHA:98880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98880 Familial afibrinogenemia HP:0000421 ORPHA:98880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98880 Familial afibrinogenemia HP:0001342 ORPHA:98880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98880 Familial afibrinogenemia HP:0001386 ORPHA:98880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98880 Familial afibrinogenemia HP:0001892 ORPHA:98880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98880 Familial afibrinogenemia HP:0005268 ORPHA:98880 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:98880 Familial afibrinogenemia HP:0400008 ORPHA:98880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98881 Familial dysfibrinogenemia HP:0000225 ORPHA:98881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98881 Familial dysfibrinogenemia HP:0000421 ORPHA:98881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98881 Familial dysfibrinogenemia HP:0001892 ORPHA:98881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98881 Familial dysfibrinogenemia HP:0002239 ORPHA:98881 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98881 Familial dysfibrinogenemia HP:0004936 ORPHA:98881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002719 ORPHA:169154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001508 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001888 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0004429 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0005403 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0005407 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0005415 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0031381 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0045080 ORPHA:169154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0000155 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001019 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001433 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001596 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001875 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001880 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001945 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0001973 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002028 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002716 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002783 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002788 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0003212 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0003237 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0003261 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0005401 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0010702 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0025526 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0040187 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0100827 ORPHA:169154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001324 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002061 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0003202 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0003693 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0006986 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0007354 ORPHA:300605 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001264 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001276 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001332 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001348 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002167 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002355 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002460 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002483 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002540 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0003429 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0005750 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0031936 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0031960 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0100295 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0100360 ORPHA:300605 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000020 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000252 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000605 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000639 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000708 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001251 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001263 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001300 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0001317 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002015 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002072 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002169 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002179 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002425 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002530 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002544 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002599 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0002650 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0003701 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0003722 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0004326 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0011471 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0012048 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0030051 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0100543 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0000175 ORPHA:1393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0000347 ORPHA:1393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0001591 ORPHA:1393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0002643 ORPHA:1393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0030282 ORPHA:1393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0000162 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0000405 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0000413 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0001249 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0001511 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0001522 ORPHA:1393 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0002779 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0002808 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0004322 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0011968 ORPHA:1393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0000003 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0000252 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0000465 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0001629 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0002132 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0002324 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0002414 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0002435 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0002475 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0002514 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0004209 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0010290 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0002372 ORPHA:31709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0001250 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0001266 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0001332 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0002072 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0002305 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0002384 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0004305 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0007166 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0007359 ORPHA:31709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0011172 ORPHA:31709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0012002 ORPHA:31709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31709 Infantile convulsions and choreoathetosis HP:0410263 ORPHA:31709 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000174 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000272 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000278 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000286 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000366 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000368 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000494 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000508 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000512 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000545 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000662 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000664 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000670 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0001100 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0001156 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0001276 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0002650 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0004209 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0005692 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0007703 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0008046 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0100543 ORPHA:1390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome HP:0200021 ORPHA:1390 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001324 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001508 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001639 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001640 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001712 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0002240 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0003236 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0008872 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0008947 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0010471 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0012379 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0025335 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0025336 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0025435 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0031964 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0032092 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0040329 ORPHA:308552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0000158 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0000183 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0000297 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001270 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001284 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0002093 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0002098 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0002747 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0002878 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0003324 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0003701 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0004887 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0005165 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0009805 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0011947 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0030148 ORPHA:308552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0000365 ORPHA:308552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001249 ORPHA:308552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313906 Congenital pancreatic cyst HP:0000952 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313906 Congenital pancreatic cyst HP:0001733 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313906 Congenital pancreatic cyst HP:0002013 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313906 Congenital pancreatic cyst HP:0002027 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313906 Congenital pancreatic cyst HP:0002039 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313906 Congenital pancreatic cyst HP:0003270 ORPHA:313906 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000325 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000347 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001511 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001518 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0004209 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0004482 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0008872 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0008897 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0011220 ORPHA:397590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000045 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000047 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000175 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000369 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000750 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001159 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001270 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001562 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001626 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0009237 ORPHA:397590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000023 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000028 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000048 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000821 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0000957 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001263 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001804 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0001943 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0002007 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0002099 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0006266 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0007018 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0010442 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0030260 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0100257 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0100555 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397590 Silver-Russell syndrome due to a point mutation HP:0100607 ORPHA:397590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0000268 ORPHA:1399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0000365 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0000639 ORPHA:1399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0000815 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0001251 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0001268 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0001276 ORPHA:1399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0001288 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0001347 ORPHA:1399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0001387 ORPHA:1399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0002919 ORPHA:1399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0003693 ORPHA:1399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1399 Richards-Rundle syndrome HP:0004349 ORPHA:1399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0000762 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0001761 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0002355 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0002378 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0002936 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0003438 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0003482 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0007141 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0007340 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0008944 ORPHA:352675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0002166 ORPHA:352675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0003236 ORPHA:352675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0003376 ORPHA:352675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0003393 ORPHA:352675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0000407 ORPHA:352675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6 HP:0001270 ORPHA:352675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1398 Isolated cerebellar agenesis HP:0000252 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1398 Isolated cerebellar agenesis HP:0000256 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1398 Isolated cerebellar agenesis HP:0000496 ORPHA:1398 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1398 Isolated cerebellar agenesis HP:0000708 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1398 Isolated cerebellar agenesis HP:0001250 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1398 Isolated cerebellar agenesis HP:0001251 ORPHA:1398 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1398 Isolated cerebellar agenesis HP:0001252 ORPHA:1398 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1398 Isolated cerebellar agenesis HP:0001276 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1398 Isolated cerebellar agenesis HP:0002167 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1398 Isolated cerebellar agenesis HP:0100022 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome HP:0000518 ORPHA:1397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome HP:0001249 ORPHA:1397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome HP:0001251 ORPHA:1397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome HP:0001252 ORPHA:1397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1397 Hydrocephaly-cerebellar agenesis syndrome HP:0012642 ORPHA:1397 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000252 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000256 ORPHA:276413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000286 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000308 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000316 ORPHA:276413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000369 ORPHA:276413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000463 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000494 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000582 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000601 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000717 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001166 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001249 ORPHA:276413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001250 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001263 ORPHA:276413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001321 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001508 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001643 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001704 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0001883 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0002007 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0002308 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0002463 ORPHA:276413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0005280 ORPHA:276413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0005692 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0006695 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0007018 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0100444 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0100783 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0200008 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000154 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000175 ORPHA:1394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000204 ORPHA:1394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000248 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000256 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000286 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000289 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000316 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000368 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000445 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000470 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000486 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000494 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000574 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000664 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000774 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000892 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000902 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0000912 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0001249 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0001320 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0001561 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002079 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002119 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002120 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002162 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002208 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002650 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0002937 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0003196 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0003422 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0004322 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0010720 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0011800 ORPHA:1394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1394 Cerebrofaciothoracic dysplasia HP:0100790 ORPHA:1394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0001386 ORPHA:98878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0002829 ORPHA:98878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0003125 ORPHA:98878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0005261 ORPHA:98878 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0011889 ORPHA:98878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0001907 ORPHA:98878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0007420 ORPHA:98878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0030140 ORPHA:98878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0002239 ORPHA:98878 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0009811 ORPHA:98878 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0012233 ORPHA:98878 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0030746 ORPHA:98878 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0002170 ORPHA:98878 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98878 Hemophilia A HP:0012223 ORPHA:98878 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0000790 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0001058 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0002170 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0003010 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0003645 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0004406 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0004846 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0005261 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0006298 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0011858 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0012233 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0012541 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0040232 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98879 Hemophilia B HP:0400008 ORPHA:98879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000278 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000490 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000750 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0001263 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0001999 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0007371 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0100275 ORPHA:480898 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000212 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000253 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000322 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000649 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0001212 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0001265 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002059 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002187 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002509 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002650 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0031954 ORPHA:480898 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000294 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000347 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000377 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000483 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000486 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000545 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000565 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000648 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0001045 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002023 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0002353 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0008755 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0100704 ORPHA:480898 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0001903 ORPHA:98870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0004447 ORPHA:98870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0011273 ORPHA:98870 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0001877 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0002904 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0003452 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0005518 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0012130 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0012378 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0025035 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0025196 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0025354 ORPHA:98870 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0000225 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0000980 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0002249 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0002315 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0002910 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0011891 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0030140 ORPHA:98870 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98870 Congenital dyserythropoietic anemia type III HP:0004322 ORPHA:98870 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000028 ORPHA:1381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000047 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000174 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000486 ORPHA:1381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000518 ORPHA:1381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000639 ORPHA:1381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0001249 ORPHA:1381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0001636 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0002023 ORPHA:1381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0002857 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0008063 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0008736 ORPHA:1381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000712 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000716 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000737 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001257 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001260 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001300 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001347 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002063 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002451 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002493 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0004373 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0008760 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0100710 ORPHA:216873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000722 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001288 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0001337 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002015 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002072 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002167 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0007256 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0012048 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0030216 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0100543 ORPHA:216873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000488 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000618 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000648 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0000709 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002312 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0002359 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration HP:0012473 ORPHA:216873 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0000124 ORPHA:1380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0000518 ORPHA:1380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0000639 ORPHA:1380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0001249 ORPHA:1380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0001250 ORPHA:1380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1380 Cataract-nephropathy-encephalopathy syndrome HP:0004322 ORPHA:1380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0012490 ORPHA:86884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0030350 ORPHA:86884 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0001433 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0001824 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0001945 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0003256 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0012156 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0012378 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0025143 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0025474 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma HP:0200042 ORPHA:86884 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0003198 ORPHA:171442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0003458 ORPHA:171442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0003798 ORPHA:171442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0002067 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0003326 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0003484 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0003557 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0003722 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0003803 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0009058 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0031047 ORPHA:171442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0000218 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0000275 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0000276 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0000347 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0001265 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0001371 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0001644 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0002068 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0002355 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0002483 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0002747 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0002792 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0003552 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0007340 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0010546 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0011968 ORPHA:171442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0008180 ORPHA:171442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171442 Adult-onset nemaline myopathy HP:0007010 ORPHA:171442 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002460 ORPHA:329478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0000726 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0001437 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002344 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002355 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002359 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002380 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003326 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003394 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003458 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003691 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003805 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0008180 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0008954 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0008978 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0009005 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0009027 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0012548 ORPHA:329478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0000020 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0000716 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0000739 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0000762 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0001300 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0001337 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0001349 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002607 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003418 ORPHA:329478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0002792 ORPHA:329478 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0001638 ORPHA:329478 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:329478 Adult-onset distal myopathy due to VCP mutation HP:0003701 ORPHA:329478 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0000174 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0000308 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0000343 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0000649 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0001162 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0001249 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0001276 ORPHA:1389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0001347 ORPHA:1389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0002205 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0003196 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0004322 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0004326 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0011220 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome HP:0100704 ORPHA:1389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0000162 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0000175 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0000272 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0000293 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0000316 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0000347 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0000368 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0000389 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0000767 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0001387 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0001508 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0001629 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0001631 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0002119 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0002553 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0030680 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0002650 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0004209 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0004322 ORPHA:1388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0005692 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0005930 ORPHA:1388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0009467 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0010285 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0010508 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1388 Catel-Manzke syndrome HP:0100490 ORPHA:1388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0000975 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0000989 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0001744 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0001824 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0001945 ORPHA:86893 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0002039 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0002240 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0002665 ORPHA:86893 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0002716 ORPHA:86893 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0002721 ORPHA:86893 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0003002 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0005561 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0012191 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma HP:0012378 ORPHA:86893 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002960 ORPHA:37042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000818 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000964 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000976 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001531 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001891 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002242 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0003111 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0003212 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0005208 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0007473 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0011123 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0012393 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0025379 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0031401 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0100646 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0100651 ORPHA:37042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000821 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001025 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001581 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001875 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001890 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001904 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001970 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001973 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002013 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002024 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002098 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002205 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002719 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002901 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002910 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002917 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0003073 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0003765 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0004326 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0006515 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0008066 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0008404 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0012115 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0012578 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0030909 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0031085 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0031104 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0031123 ORPHA:37042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000100 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0000836 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001287 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001596 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0001744 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002090 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002583 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002595 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002716 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002754 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0005263 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0025156 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0040288 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0100614 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0100806 ORPHA:37042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000028 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000044 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000218 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000221 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000232 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000248 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000252 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000272 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000322 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000347 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000368 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000518 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000601 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000692 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0001155 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0001249 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0002120 ORPHA:1387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0002162 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0002650 ORPHA:1387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0003307 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0004322 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0005280 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0007477 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0007495 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0008388 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0008872 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0009465 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0009738 ORPHA:1387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0009832 ORPHA:1387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0011800 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001987 ORPHA:927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002013 ORPHA:927 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002018 ORPHA:927 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0008947 ORPHA:927 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000713 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000739 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001250 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001254 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001259 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001263 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001289 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001508 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000712 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002315 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002329 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002465 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0003217 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0003348 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0004396 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0007185 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0008281 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0011968 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0012378 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0100543 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0100785 ORPHA:927 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000252 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000708 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000725 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000733 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001251 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001271 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001297 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001298 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002014 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002098 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002240 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002637 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0002863 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0006582 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0010529 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0010550 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0031258 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0001258 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0001288 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0002064 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0002395 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0003155 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0003324 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0003445 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0003487 ORPHA:329475 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0002653 ORPHA:329475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0002757 ORPHA:329475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0002829 ORPHA:329475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0004563 ORPHA:329475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0011842 ORPHA:329475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0001308 ORPHA:329475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329475 Spastic paraplegia-Paget disease of bone syndrome HP:0007289 ORPHA:329475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001284 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001290 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001349 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001371 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001533 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001623 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001638 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001761 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001989 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0002483 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0002515 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0002650 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0002747 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0002792 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0003691 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0008180 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0011968 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0030192 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0000508 ORPHA:171439 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001561 ORPHA:171439 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0002804 ORPHA:171439 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0007010 ORPHA:171439 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0003198 ORPHA:171439 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0003458 ORPHA:171439 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0003798 ORPHA:171439 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001265 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0001270 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0002067 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0002068 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0002312 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0002355 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0003306 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0003546 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0003552 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0003557 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0003690 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0003803 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0009055 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0009058 ORPHA:171439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0000218 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0000275 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0000276 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0000316 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0000347 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0000467 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171439 Childhood-onset nemaline myopathy HP:0000774 ORPHA:171439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0012517 ORPHA:926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0000155 ORPHA:926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0000166 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0000225 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0000230 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0001935 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0005978 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0040113 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0100758 ORPHA:926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0001045 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0001300 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0002634 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0006357 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0012531 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0100605 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0100651 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:926 Acatalasemia HP:0100753 ORPHA:926 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:929 Achalasia-microcephaly syndrome HP:0000252 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:929 Achalasia-microcephaly syndrome HP:0000286 ORPHA:929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:929 Achalasia-microcephaly syndrome HP:0000303 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:929 Achalasia-microcephaly syndrome HP:0000347 ORPHA:929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:929 Achalasia-microcephaly syndrome HP:0000400 ORPHA:929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:929 Achalasia-microcephaly syndrome HP:0000448 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:929 Achalasia-microcephaly syndrome HP:0001249 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:929 Achalasia-microcephaly syndrome HP:0001510 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:929 Achalasia-microcephaly syndrome HP:0002571 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:929 Achalasia-microcephaly syndrome HP:0007477 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0000135 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0000407 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0000519 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0001256 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0004322 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1383 Cataract-deafness-hypogonadism syndrome HP:0004554 ORPHA:1383 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000047 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000062 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000164 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000252 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000288 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000293 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000308 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000337 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000369 ORPHA:276422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000389 ORPHA:276422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000486 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000490 ORPHA:276422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000582 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000601 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000772 ORPHA:276422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000889 ORPHA:276422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0001249 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0001263 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0001636 ORPHA:276422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0002381 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0002381 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0030680 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0002317 ORPHA:482601 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009046 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009053 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0030319 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0003474 ORPHA:482601 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0031108 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0008959 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0008994 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009027 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0030051 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0007210 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009129 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0001315 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0008944 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009050 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0002540 ORPHA:482601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0003551 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0009072 ORPHA:482601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0002200 ORPHA:482601 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0002359 ORPHA:482601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0003376 ORPHA:482601 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0003731 ORPHA:482601 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy HP:0005216 ORPHA:482601 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:922 Familial nasal acilia HP:0002110 ORPHA:922 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:922 Familial nasal acilia HP:0002257 ORPHA:922 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:922 Familial nasal acilia HP:0002788 ORPHA:922 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:922 Familial nasal acilia HP:0005938 ORPHA:922 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:922 Familial nasal acilia HP:0002094 ORPHA:922 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:922 Familial nasal acilia HP:0002098 ORPHA:922 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:922 Familial nasal acilia HP:0011109 ORPHA:922 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:922 Familial nasal acilia HP:0100750 ORPHA:922 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000219 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000280 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000286 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000316 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000343 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000411 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000463 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000470 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000486 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000637 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001263 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000786 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0000939 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0004209 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001182 ORPHA:96201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001249 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001250 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0002069 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001319 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001388 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001510 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001562 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001629 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001647 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001718 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001770 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0001999 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0002162 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0002616 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0009824 ORPHA:96201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0009816 ORPHA:96201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0004691 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0004349 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0010864 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0007642 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0008209 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0010945 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0011968 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0012725 ORPHA:96201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96201 X small rings HP:0400000 ORPHA:96201 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0000767 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001315 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001387 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002486 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003198 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003236 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0006785 ORPHA:98863 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0000470 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0000912 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001288 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001639 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002155 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002515 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003141 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003306 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003418 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003458 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003691 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003805 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0004631 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0008948 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0008956 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0008994 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0008997 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0011807 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0030117 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0030051 ORPHA:98863 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0000508 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001252 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001513 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001678 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001771 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002650 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002808 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002987 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0003307 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0005115 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0008064 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0009125 ORPHA:98863 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001605 ORPHA:98863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001645 ORPHA:98863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0002747 ORPHA:98863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0005155 ORPHA:98863 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy HP:0001249 ORPHA:98863 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000028 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000047 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000174 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000175 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000272 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000286 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000400 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000405 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000407 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000482 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000567 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000589 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0000612 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0001156 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0001631 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0001770 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0001831 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0002974 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0004322 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0008743 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0009465 ORPHA:921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0010751 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0012368 ORPHA:921 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:921 Abruzzo-Erickson syndrome HP:0100542 ORPHA:921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000055 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000062 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000154 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000233 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000327 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000365 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000413 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000430 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000463 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000505 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000545 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000561 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000691 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000750 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000958 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0000963 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0001000 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0001126 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0001263 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0001510 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0001537 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0001539 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0001582 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0001770 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0002213 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0002223 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0003187 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0005280 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0006709 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0007392 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0007957 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0008070 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0008551 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0008736 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0010669 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0010720 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0011224 ORPHA:920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0100490 ORPHA:920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:920 Ablepharon macrostomia syndrome HP:0200020 ORPHA:920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001288 ORPHA:216866 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000157 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000510 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000543 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000580 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001257 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001260 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001347 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002015 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002359 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002454 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002533 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002540 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002659 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0003552 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0007018 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0007325 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0012675 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0030051 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0100543 ORPHA:216866 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000298 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001263 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001824 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0002179 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0011951 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0012735 ORPHA:216866 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0000618 ORPHA:216866 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration HP:0001250 ORPHA:216866 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1377 Cataract-microcornea syndrome HP:0000482 ORPHA:1377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1377 Cataract-microcornea syndrome HP:0000518 ORPHA:1377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1377 Cataract-microcornea syndrome HP:0000545 ORPHA:1377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1377 Cataract-microcornea syndrome HP:0000612 ORPHA:1377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1377 Cataract-microcornea syndrome HP:0000639 ORPHA:1377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1377 Cataract-microcornea syndrome HP:0001131 ORPHA:1377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1377 Cataract-microcornea syndrome HP:0007957 ORPHA:1377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0004373 ORPHA:329466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0000473 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0002451 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0002530 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0012049 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0012179 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type HP:0031008 ORPHA:329466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0000175 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0000211 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0000377 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0000486 ORPHA:916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0001238 ORPHA:916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0001305 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0001387 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0001762 ORPHA:916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0002650 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0002664 ORPHA:916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0002828 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0003272 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0006501 ORPHA:916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:916 Aase-Smith syndrome HP:0100490 ORPHA:916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0000174 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0000519 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0000691 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0000767 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0001249 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0002162 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0002230 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome HP:0005280 ORPHA:1375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000023 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000028 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000049 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000164 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000175 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000202 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000204 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000232 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000286 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000311 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000316 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000327 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000337 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000343 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000368 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000431 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000463 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000470 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000485 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000486 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000494 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000508 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000684 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000708 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000767 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000954 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0000974 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0001169 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0001537 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0001635 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0001763 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0001769 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0001773 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0001883 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0030680 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0002816 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0003319 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0004209 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0004279 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0004322 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0005640 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0005692 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0006101 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0007018 ORPHA:915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0008572 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0009890 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0100490 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0100543 ORPHA:915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:915 Aarskog-Scott syndrome HP:0200055 ORPHA:915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000023 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000191 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000286 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000368 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000508 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0000518 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0001048 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0001537 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0004322 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome HP:0008499 ORPHA:1373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0009053 ORPHA:276435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0001265 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0001284 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0001288 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002380 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003236 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003445 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003449 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003710 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0008985 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0008994 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0031921 ORPHA:276435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0001308 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0001337 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002015 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003200 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003458 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0003805 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0006886 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0008954 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0008997 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0040132 ORPHA:276435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002086 ORPHA:276435 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002483 ORPHA:276435 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002540 ORPHA:276435 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276435 Lower motor neuron syndrome with late-adult onset HP:0002493 ORPHA:276435 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0002435 ORPHA:268810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0045005 ORPHA:268810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0001347 ORPHA:268810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0000238 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0000805 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0001276 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0002144 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0002308 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0002355 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0002375 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0002395 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0002436 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0002607 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0003438 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0005986 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0006986 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0008467 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0010550 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0025480 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0040194 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268810 Posterior meningocele HP:0100565 ORPHA:268810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000003 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000028 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000047 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0008665 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000126 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000157 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000218 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000252 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000256 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000260 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000286 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000347 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000348 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000407 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000431 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000474 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000501 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000505 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000518 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000532 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000582 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000627 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000639 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000648 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0000952 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0001088 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0001250 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0001315 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0001399 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0001508 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0001522 ORPHA:912 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0001622 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0001629 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0001928 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0002021 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0002024 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0002093 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0002126 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0002240 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0002353 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0002652 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0004322 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0005280 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0005469 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0006829 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0007957 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0008167 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0008207 ORPHA:912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0008572 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0008872 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0009891 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0010655 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0012368 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0012736 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:912 Zellweger syndrome HP:0100543 ORPHA:912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001771 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002155 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002515 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002987 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003141 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003306 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003418 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003458 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003691 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003805 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0004631 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0005115 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0005155 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0008948 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0008956 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0008994 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0008997 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0011807 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0030117 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0030051 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001252 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001513 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002650 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002808 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003307 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0008064 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0009125 ORPHA:98855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001249 ORPHA:98855 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0000767 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001387 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002486 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0002600 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003198 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0003236 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0006785 ORPHA:98855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0000912 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001288 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001644 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001645 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001678 ORPHA:98855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002718 ORPHA:911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0004429 ORPHA:911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0005390 ORPHA:911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0031381 ORPHA:911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001508 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002028 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002090 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0004798 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0005415 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0005422 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0009098 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0200117 ORPHA:911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0000100 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0000988 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001297 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001433 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001880 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002583 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002716 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002728 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002733 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002840 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0005406 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0010280 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0011274 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0100827 ORPHA:911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001890 ORPHA:911 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0001973 ORPHA:911 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0002665 ORPHA:911 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency HP:0005523 ORPHA:911 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0002936 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003380 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003390 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003447 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003482 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007002 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007078 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0009053 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0040078 ORPHA:98856 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0001284 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0001760 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0001761 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0001765 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0002460 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003376 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003387 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003693 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003701 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007149 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0008956 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0008959 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0008994 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0009049 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0009130 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0011916 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0030237 ORPHA:98856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0002540 ORPHA:98856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003724 ORPHA:98856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007126 ORPHA:98856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007249 ORPHA:98856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0008988 ORPHA:98856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0003431 ORPHA:98856 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98856 Charcot-Marie-Tooth disease type 2B1 HP:0007233 ORPHA:98856 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0002044 ORPHA:913 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0100634 ORPHA:913 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0002014 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0002018 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0002574 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0002588 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0004398 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0100633 ORPHA:913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0001824 ORPHA:913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0000843 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0000845 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0000854 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0000952 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0001012 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0003118 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0002239 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0002573 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0002893 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0003072 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0003165 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0005214 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0006767 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0008208 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0008256 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0008291 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0010783 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0011760 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0011761 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0012030 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0012032 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0012334 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0030404 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0030688 ORPHA:913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:913 Zollinger-Ellison syndrome HP:0006744 ORPHA:913 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000270 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000473 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0001262 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0001263 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0001290 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0002059 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0002213 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0002650 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0008897 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0010055 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0100840 ORPHA:276432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000023 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000028 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000280 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000290 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000308 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000341 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000369 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000400 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000430 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000494 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000520 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000708 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000729 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0000973 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0001254 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0001276 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0001629 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0002000 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0002007 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0002119 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0002194 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0002362 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0002457 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0002705 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0004415 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0009931 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0010803 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0011675 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0025104 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276432 Ogden syndrome HP:0030149 ORPHA:276432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000028 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000135 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000164 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000252 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000365 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000407 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000486 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000491 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000498 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000518 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000524 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000613 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000621 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000648 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000656 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000958 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000962 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000963 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000992 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0000995 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001009 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001029 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001034 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001053 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001059 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001072 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001250 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001251 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001257 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001315 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001480 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001508 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001596 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0001945 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0002071 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0002120 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0002353 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0002376 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0002664 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0002750 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0002829 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0002861 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0003355 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0004322 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0004334 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0004493 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0006887 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0007759 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0008734 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0009755 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0009830 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0010649 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0010783 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0012378 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0012733 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0012740 ORPHA:910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0100012 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0100543 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:910 Xeroderma pigmentosum HP:0100585 ORPHA:910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0000767 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001315 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001387 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002486 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003198 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003236 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0006785 ORPHA:98853 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0000912 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001288 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001771 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002155 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002515 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002987 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003141 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003306 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003418 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003458 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003691 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003805 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0004631 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0008948 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0008956 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0008994 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0008997 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0011807 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0030117 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0030051 ORPHA:98853 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0000508 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001252 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001513 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001644 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001678 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002650 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002808 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0003307 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0005115 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0008064 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0009125 ORPHA:98853 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001605 ORPHA:98853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001639 ORPHA:98853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001645 ORPHA:98853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0002747 ORPHA:98853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0005155 ORPHA:98853 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0001249 ORPHA:98853 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000218 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000278 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001270 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001290 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0002093 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0002515 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003323 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003391 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003551 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003700 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0009046 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0010628 ORPHA:169186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000160 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000193 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000276 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000411 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000597 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000602 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0000750 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001256 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001260 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001284 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001349 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001618 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001654 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001712 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001761 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001762 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0001999 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003273 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003307 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003403 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003687 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003691 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0003803 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169186 Autosomal recessive centronuclear myopathy HP:0100807 ORPHA:169186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2690 Neutropenia-monocytopenia-deafness syndrome HP:0000407 ORPHA:2690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2690 Neutropenia-monocytopenia-deafness syndrome HP:0001874 ORPHA:2690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2690 Neutropenia-monocytopenia-deafness syndrome HP:0004311 ORPHA:2690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2690 Neutropenia-monocytopenia-deafness syndrome HP:0010978 ORPHA:2690 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90050 Retinopathy of prematurity HP:0001518 ORPHA:90050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90050 Retinopathy of prematurity HP:0001622 ORPHA:90050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90050 Retinopathy of prematurity HP:0008046 ORPHA:90050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90050 Retinopathy of prematurity HP:0000618 ORPHA:90050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90050 Retinopathy of prematurity HP:0001103 ORPHA:90050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90050 Retinopathy of prematurity HP:0001136 ORPHA:90050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90050 Retinopathy of prematurity HP:0007902 ORPHA:90050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90050 Retinopathy of prematurity HP:0007917 ORPHA:90050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000256 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000407 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000480 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000494 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001249 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001263 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001328 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001520 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001629 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001634 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001999 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0004712 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0011407 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0012385 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0012471 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0030037 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0410252 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0410255 ORPHA:500095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000003 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000023 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000105 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000158 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000286 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000311 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000316 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000400 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000411 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000483 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000486 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000490 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000518 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000637 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0000750 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001172 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001176 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001707 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001762 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001833 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001840 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0001847 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0002619 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0002667 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0002982 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0003298 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0011800 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0031069 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0100694 ORPHA:500095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0001269 ORPHA:306741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0001332 ORPHA:306741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0002518 ORPHA:306741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0012751 ORPHA:306741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0001787 ORPHA:306741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0002451 ORPHA:306741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0100556 ORPHA:306741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0000245 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0000250 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0001250 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0003487 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0007256 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0010540 ORPHA:306741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0001270 ORPHA:306741 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:306741 Hemidystonia-hemiatrophy syndrome HP:0012106 ORPHA:306741 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0000407 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0000505 ORPHA:1368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0000519 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0000639 ORPHA:1368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0000762 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0001251 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0001256 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0001276 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0001284 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0001337 ORPHA:1368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0004322 ORPHA:1368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0008615 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1368 Cataract-ataxia-deafness syndrome HP:0009830 ORPHA:1368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0010824 ORPHA:137596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0012155 ORPHA:137596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0007924 ORPHA:137596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0000483 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0000495 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0000559 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0000622 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0000632 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0000819 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0012040 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0012122 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0012804 ORPHA:137596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0012533 ORPHA:137596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0100583 ORPHA:137596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:137596 Neurotrophic keratopathy HP:0100963 ORPHA:137596 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0000505 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0000518 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0000982 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0000987 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0001387 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0001482 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0007418 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0008065 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0008404 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0100679 ORPHA:1366 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0007663 ORPHA:137599 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0007765 ORPHA:137599 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0012040 ORPHA:137599 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0012108 ORPHA:137599 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0007812 ORPHA:137599 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0009926 ORPHA:137599 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0012039 ORPHA:137599 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0012155 ORPHA:137599 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0100583 ORPHA:137599 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0000491 ORPHA:137599 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:137599 Herpes simplex virus stromal keratitis HP:0000618 ORPHA:137599 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0001257 ORPHA:352641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002073 ORPHA:352641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0003487 ORPHA:352641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0000570 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0000639 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0001348 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002015 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002061 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002066 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002464 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0003477 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0007141 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0007256 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0010831 ORPHA:352641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0000020 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0000407 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0001761 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002059 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002166 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002346 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002650 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0003693 ORPHA:352641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0001256 ORPHA:352641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0002078 ORPHA:352641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0004905 ORPHA:352641 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0100513 ORPHA:352641 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1361 Carnosinase deficiency HP:0001249 ORPHA:1361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1361 Carnosinase deficiency HP:0002123 ORPHA:1361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1361 Carnosinase deficiency HP:0002353 ORPHA:1361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1361 Carnosinase deficiency HP:0002376 ORPHA:1361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1361 Carnosinase deficiency HP:0003167 ORPHA:1361 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0000822 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0001050 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0001899 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0011106 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0020059 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0025548 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0025619 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0100724 ORPHA:90041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0000739 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0000848 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0001513 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0002149 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0002152 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0002155 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0002315 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0002321 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0003124 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0003394 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0004950 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0005117 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0012378 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0012605 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0025502 ORPHA:90041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0001082 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0001297 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0001658 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0001677 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0001681 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0002094 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0004398 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0100785 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0410019 ORPHA:90041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0000121 ORPHA:90041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0000819 ORPHA:90041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0001997 ORPHA:90041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90041 Gaisböck syndrome HP:0001744 ORPHA:90041 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0000421 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0000989 ORPHA:90042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0001892 ORPHA:90042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0001901 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0001907 ORPHA:90042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0002027 ORPHA:90042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0002094 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0002315 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0002321 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0002829 ORPHA:90042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0002875 ORPHA:90042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0004936 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0011902 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0012378 ORPHA:90042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90042 Primary familial polycythemia HP:0012735 ORPHA:90042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2695 Bifid nose HP:0000316 ORPHA:2695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2695 Bifid nose HP:0011803 ORPHA:2695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0000338 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0000496 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0000508 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0000975 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001251 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001260 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001263 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001276 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001285 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001288 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001290 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001300 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001332 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001337 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001611 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0001760 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002075 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002310 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002360 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002362 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002421 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002451 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0002597 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0005484 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0008936 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0010307 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0010553 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0011443 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0012378 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0030215 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352649 Brain dopamine-serotonin vesicular transport disease HP:0100543 ORPHA:352649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90044 Familial pseudohyperkalemia HP:0002153 ORPHA:90044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90044 Familial pseudohyperkalemia HP:0000822 ORPHA:90044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90044 Familial pseudohyperkalemia HP:0004446 ORPHA:90044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90044 Familial pseudohyperkalemia HP:0001923 ORPHA:90044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90044 Familial pseudohyperkalemia HP:0005518 ORPHA:90044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90044 Familial pseudohyperkalemia HP:0004802 ORPHA:90044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0000010 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0000206 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0000708 ORPHA:90045 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0000980 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0001250 ORPHA:90045 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0001263 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0001347 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0001508 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0001873 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0001876 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0001880 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0001889 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0002014 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0002017 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0002020 ORPHA:90045 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0002039 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0002205 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0002514 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0002715 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0002721 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0003202 ORPHA:90045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0004313 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0009830 ORPHA:90045 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0100022 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90045 Hereditary folate malabsorption HP:0100825 ORPHA:90045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0003687 ORPHA:169189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0000508 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0000883 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001290 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001436 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001520 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001558 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001561 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002194 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002355 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0003458 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0003803 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0004488 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0005268 ORPHA:169189 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0008180 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0008994 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0008997 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0010546 ORPHA:169189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0000020 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0000028 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0000544 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0001048 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002021 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002522 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002747 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0003477 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0003738 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0008981 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0012768 ORPHA:169189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169189 Autosomal dominant centronuclear myopathy HP:0002047 ORPHA:169189 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0001820 ORPHA:2698 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0008527 ORPHA:2698 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0032541 ORPHA:2698 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0000972 ORPHA:2698 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0000982 ORPHA:2698 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0000410 ORPHA:2698 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0045059 ORPHA:2698 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000486 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000501 ORPHA:1369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000512 ORPHA:1369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000518 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000545 ORPHA:1369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000639 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0001131 ORPHA:1369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0001639 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0003128 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0003198 ORPHA:1369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome HP:0001252 ORPHA:2680 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome HP:0001315 ORPHA:2680 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome HP:0001376 ORPHA:2680 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome HP:0002098 ORPHA:2680 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome HP:0003457 ORPHA:2680 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0000980 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001873 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001878 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001919 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0012378 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0032169 ORPHA:544482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0000707 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001945 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001974 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002014 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002027 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0011037 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0011115 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0011116 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0011947 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0030783 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0032155 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0100282 ORPHA:544482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0000822 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0000969 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001287 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001733 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002013 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002018 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002090 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002094 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002102 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002153 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002901 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002902 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0004372 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0005208 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0012593 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0012819 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0025085 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0031691 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0031864 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0100519 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0100520 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0100735 ORPHA:544482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0000819 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001250 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001259 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0001269 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0002576 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0003095 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0005244 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0007430 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0011919 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0030049 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0031368 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:544482 Infection-related hemolytic uremic syndrome HP:0100704 ORPHA:544482 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0000182 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0000273 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0000708 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0000712 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0000719 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0000722 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0000737 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0001260 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0001290 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0002072 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0002315 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0002317 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0100248 ORPHA:306731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0003095 ORPHA:306731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0005366 ORPHA:306731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0010783 ORPHA:306731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306731 Sydenham chorea HP:0100584 ORPHA:306731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0000980 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0001324 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0001635 ORPHA:90037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0001649 ORPHA:90037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0001744 ORPHA:90037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0001890 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0002315 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0002875 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0003573 ORPHA:90037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0012086 ORPHA:90037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90037 Drug-induced autoimmune hemolytic anemia HP:0012378 ORPHA:90037 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001873 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001919 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001937 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002013 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002014 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002027 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0003259 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0005423 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0008282 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0100519 ORPHA:90038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0000707 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0000737 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0000822 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001250 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001262 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001923 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001944 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001974 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001981 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002900 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002902 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0003641 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0025085 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0025435 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0031368 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0100282 ORPHA:90038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001259 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001658 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0001733 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002035 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002576 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0002586 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome HP:0012851 ORPHA:90038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000047 ORPHA:1355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000160 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000163 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000311 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000457 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0000463 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0030680 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0003196 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0004322 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0005599 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0007440 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome HP:0007477 ORPHA:1355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306734 Primary dystonia, DYT21 type HP:0001332 ORPHA:306734 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:306734 Primary dystonia, DYT21 type HP:0000473 ORPHA:306734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306734 Primary dystonia, DYT21 type HP:0000643 ORPHA:306734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306734 Primary dystonia, DYT21 type HP:0002268 ORPHA:306734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306734 Primary dystonia, DYT21 type HP:0004373 ORPHA:306734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306734 Primary dystonia, DYT21 type HP:0007325 ORPHA:306734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:306734 Primary dystonia, DYT21 type HP:0002451 ORPHA:306734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306734 Primary dystonia, DYT21 type HP:0002530 ORPHA:306734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:306734 Primary dystonia, DYT21 type HP:0012049 ORPHA:306734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0005560 ORPHA:90039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0011902 ORPHA:90039 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0011905 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0011906 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0011907 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0025066 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0025547 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0045048 ORPHA:90039 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0030058 ORPHA:90039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0045047 ORPHA:90039 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0000980 ORPHA:90039 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0001744 ORPHA:90039 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0001903 ORPHA:90039 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90039 Hemoglobin D disease HP:0002027 ORPHA:90039 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0000772 ORPHA:1354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0000774 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0000944 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0001522 ORPHA:1354 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0001629 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0001631 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0001633 ORPHA:1354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0001702 ORPHA:1354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0002808 ORPHA:1354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0003312 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0003498 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0004414 ORPHA:1354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0005026 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1354 Heart defects-limb shortening syndrome HP:0005616 ORPHA:1354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000256 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000316 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000400 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000414 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000490 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000653 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000718 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001263 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001319 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001488 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001520 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001561 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001792 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002003 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002223 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0007018 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0008689 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0012520 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0030890 ORPHA:544488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000023 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000278 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000337 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000384 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000407 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000494 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000561 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000581 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000708 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000902 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000960 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001182 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001250 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001257 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001344 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001596 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0001800 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002099 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002209 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002334 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002465 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0002608 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0004209 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0006956 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0006989 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0007074 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0007082 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0007109 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0010880 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0011276 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0011309 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0012450 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0032152 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0032671 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0045075 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0100716 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0410018 ORPHA:544488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000119 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000252 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000347 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000364 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000378 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000431 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000486 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000568 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000581 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000582 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0001107 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0001336 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0001511 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0001545 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0001671 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0002023 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0003022 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0003974 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0004209 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0008551 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0009601 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0010035 ORPHA:1352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000407 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000556 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000572 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000648 ORPHA:49827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000819 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0000980 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001254 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001297 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001629 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001631 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001635 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001695 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001873 ORPHA:49827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0001889 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0002014 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0002039 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0002315 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0003401 ORPHA:49827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0004322 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome HP:0006671 ORPHA:49827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0000028 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0000164 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0000174 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0000889 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0001156 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0001161 ORPHA:1350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0005916 ORPHA:1350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0001249 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0001387 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0001555 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0002162 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0030680 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0002983 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0040071 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0003019 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0003043 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0003063 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0006501 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0009601 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0009811 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0009908 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0010044 ORPHA:1350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0010047 ORPHA:1350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0011675 ORPHA:1350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1350 Heart-hand syndrome type 2 HP:0100556 ORPHA:1350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0000952 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0000980 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0001635 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0001649 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0001744 ORPHA:90033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0001890 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0001945 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0002315 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0002725 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0002829 ORPHA:90033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0002875 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0002960 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0005523 ORPHA:90033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0005550 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0012086 ORPHA:90033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90033 Autoimmune hemolytic anemia, warm type HP:0012378 ORPHA:90033 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0000246 ORPHA:2686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0002315 ORPHA:2686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0002653 ORPHA:2686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0040289 ORPHA:2686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0000155 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0000230 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0001581 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0001954 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0002716 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0011110 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0011947 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0012378 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0025289 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0025439 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0030757 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0032323 ORPHA:2686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0000388 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0000704 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0001873 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0001888 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0002027 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0006308 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0006357 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0009789 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0031690 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0031891 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0100658 ORPHA:2686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0002586 ORPHA:2686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0004387 ORPHA:2686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0031864 ORPHA:2686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0032169 ORPHA:2686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2686 Cyclic neutropenia HP:0100806 ORPHA:2686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0001890 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0001945 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0002014 ORPHA:90035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0002017 ORPHA:90035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0002205 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0002315 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0002829 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0003418 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0003641 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0004844 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90035 Paroxysmal cold hemoglobinuria HP:0012086 ORPHA:90035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0000158 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0000239 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0000271 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0000280 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0000821 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0000952 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0001252 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0001263 ORPHA:95720 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0001510 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0002019 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0003270 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0004322 ORPHA:95720 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0005990 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0010864 ORPHA:95720 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95720 Thyroid hypoplasia HP:0012378 ORPHA:95720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001580 ORPHA:1359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000138 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000845 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000866 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000870 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001003 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001074 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0003118 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0005585 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0007565 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0010785 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0010788 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0011672 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0011760 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0030269 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0030428 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0100619 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0100814 ORPHA:1359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000008 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000053 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000199 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000708 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000771 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000798 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000822 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000978 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001007 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001065 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001297 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001324 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001507 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001635 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001907 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0004324 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0006753 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0010619 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0010732 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0012041 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0012206 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0012743 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0012887 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0025274 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0025318 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0025383 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0025451 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0030038 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0030072 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0030075 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0100008 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0100013 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0100618 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0100638 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0100737 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0100751 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0500011 ORPHA:1359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000098 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0000826 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0001402 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0002890 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0002894 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0002895 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0004944 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0006731 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1359 Carney complex HP:0100743 ORPHA:1359 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000126 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000162 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000175 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000201 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000218 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000233 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000252 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000286 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000343 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000347 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000463 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000494 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000508 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000634 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000807 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001156 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001249 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001252 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001510 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001600 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001602 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0001762 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0002119 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0002514 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0002650 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0003196 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0003198 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0003202 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0004322 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0006824 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0007360 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0009465 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0009751 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0010295 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0010628 ORPHA:1358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0100735 ORPHA:1358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0000980 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0000988 ORPHA:90036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0001324 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0001649 ORPHA:90036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0001890 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0001945 ORPHA:90036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0002665 ORPHA:90036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0002725 ORPHA:90036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0002829 ORPHA:90036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0002875 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0002960 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0003573 ORPHA:90036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0012086 ORPHA:90036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90036 Mixed-type autoimmune hemolytic anemia HP:0012378 ORPHA:90036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0001875 ORPHA:2688 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0005202 ORPHA:2688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0001888 ORPHA:2688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0002718 ORPHA:2688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0002719 ORPHA:2688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0005561 ORPHA:2688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0001945 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0003496 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0011107 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0012139 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0012312 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0031020 ORPHA:2688 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0002841 ORPHA:2688 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0012311 ORPHA:2688 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0003453 ORPHA:2688 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2688 Adult idiopathic neutropenia HP:0011991 ORPHA:2688 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002719 ORPHA:169160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0001888 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0001945 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0003460 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0004315 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0008866 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0031381 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0045080 ORPHA:169160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0000388 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0001019 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0001433 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0001880 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002014 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002039 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002090 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002722 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0004385 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0005353 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0005401 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0006532 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0009098 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0010702 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0012115 ORPHA:169160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0000343 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0000470 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0000829 ORPHA:50810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0000878 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001181 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001250 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001252 ORPHA:50810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001263 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001276 ORPHA:50810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001284 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001321 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001339 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001508 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0001561 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0002098 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0002353 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0002983 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0003196 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0004554 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0005484 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0007598 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0010945 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0100530 ORPHA:50810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0100540 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50810 Microlissencephaly-micromelia syndrome HP:0000280 ORPHA:50810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0000407 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0000938 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001249 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001263 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001508 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001511 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001518 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0001533 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0004322 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0004993 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0005328 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0009064 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome HP:0100959 ORPHA:50811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000218 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000252 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000286 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000298 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000307 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000348 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000431 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000463 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000582 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000953 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001252 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001263 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001265 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001508 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001511 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0001596 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0002007 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0002240 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0002299 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0004322 ORPHA:50812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0007598 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0010864 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000154 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000218 ORPHA:50814 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000233 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000239 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000316 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000319 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000327 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000336 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000343 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000426 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000445 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000670 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000684 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000685 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000691 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000750 ORPHA:50814 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000774 ORPHA:50814 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0000953 ORPHA:50814 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0001000 ORPHA:50814 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0001763 ORPHA:50814 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0002007 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0002208 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0002299 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0002650 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0002652 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0004322 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0004331 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0005306 ORPHA:50814 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0005692 ORPHA:50814 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0006480 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0008031 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0008070 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0008444 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50814 Craniolenticulosutural dysplasia HP:0008808 ORPHA:50814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0000175 ORPHA:50815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0000377 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0000384 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0000396 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0000405 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0000407 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0000410 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0000413 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0000483 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0000486 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0001328 ORPHA:50815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0004322 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0004452 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0004467 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0007427 ORPHA:50815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0008774 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0009795 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0009796 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0009839 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0009882 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50815 Branchiogenic deafness syndrome HP:0011272 ORPHA:50815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0000252 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0000486 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0000505 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0000639 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0001252 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0001270 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0002650 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0002750 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0003198 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0003508 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0009921 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2678 Neurofibromatosis type 6 HP:0001480 ORPHA:2678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2678 Neurofibromatosis type 6 HP:0007565 ORPHA:2678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90026 Primary erythromelalgia HP:0009830 ORPHA:90026 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90026 Primary erythromelalgia HP:0010783 ORPHA:90026 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90026 Primary erythromelalgia HP:0000989 ORPHA:90026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90026 Primary erythromelalgia HP:0001872 ORPHA:90026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90026 Primary erythromelalgia HP:0001909 ORPHA:90026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90026 Primary erythromelalgia HP:0002045 ORPHA:90026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90026 Primary erythromelalgia HP:0002205 ORPHA:90026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90026 Primary erythromelalgia HP:0002633 ORPHA:90026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0030057 ORPHA:95715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0000260 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0000958 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0001265 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0001537 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0002019 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0002926 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0011968 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0031098 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0031219 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0031507 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0100786 ORPHA:95715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0000280 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0001319 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0002908 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0006579 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0025379 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0025483 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0500011 ORPHA:95715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0000853 ORPHA:95715 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0000518 ORPHA:1345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0000822 ORPHA:1345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0000926 ORPHA:1345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0001387 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0001635 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0001639 ORPHA:1345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0001654 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0002204 ORPHA:1345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0002652 ORPHA:1345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0002758 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0004420 ORPHA:1345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0005108 ORPHA:1345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0010885 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome HP:0011675 ORPHA:1345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0012758 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000158 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000282 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001249 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001252 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001254 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001265 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001662 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0002045 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0003265 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0005280 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0025482 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0025483 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0031219 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0031220 ORPHA:95716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000407 ORPHA:95716 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0002925 ORPHA:95716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0031507 ORPHA:95716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000270 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000851 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0000853 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0001537 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0002019 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0004491 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0005930 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0006579 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0008263 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0008828 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95716 Familial thyroid dyshormonogenesis HP:0008872 ORPHA:95716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0000158 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0000239 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0000271 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0000280 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0000821 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0001252 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0001263 ORPHA:95713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0001324 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0001510 ORPHA:95713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0002019 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0003270 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0004322 ORPHA:95713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0008191 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0010864 ORPHA:95713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0011968 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0012378 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95713 Athyreosis HP:0100786 ORPHA:95713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0001962 ORPHA:1344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0005155 ORPHA:1344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0025478 ORPHA:1344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0031546 ORPHA:1344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0031595 ORPHA:1344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0001627 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0002094 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0003560 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0011675 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0011704 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0011712 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0012378 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0012664 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0030682 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0030973 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0410174 ORPHA:1344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0001260 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0001279 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0001371 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0001635 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0001638 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0001662 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0001907 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0002018 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0002140 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0002301 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0002315 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0002321 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0002381 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0003202 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0004756 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1344 Atrial standstill HP:0011707 ORPHA:1344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0001508 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0002207 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0002883 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0012418 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0012735 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0025179 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0032341 ORPHA:91359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0000961 ORPHA:91359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0001945 ORPHA:91359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0002098 ORPHA:91359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0002789 ORPHA:91359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0030864 ORPHA:91359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91359 Chronic pneumonitis of infancy HP:0100721 ORPHA:91359 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0000158 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0000239 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0000271 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0000280 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0000952 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0001252 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0001263 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0001510 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0001537 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0002019 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0003270 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0008191 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0012378 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95719 Thyroid hemiagenesis HP:0100786 ORPHA:95719 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000028 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000126 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000176 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000218 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000238 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000256 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000276 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000280 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000286 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000293 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000316 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000343 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000348 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000368 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000391 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000400 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000463 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000465 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000470 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000478 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000486 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000494 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000499 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000504 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000508 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000545 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000637 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000639 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000648 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000767 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000958 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000962 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000974 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0000982 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001003 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001004 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001048 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001249 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001252 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001260 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001263 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001531 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001582 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001622 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001631 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001639 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001642 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0001654 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002007 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002120 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002162 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002167 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002213 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002217 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002299 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002353 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0030680 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002650 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002857 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0002967 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0040071 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0003196 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0004322 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0004422 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0005280 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0006191 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0007392 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0007440 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0007565 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0008064 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0008070 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0008391 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0008872 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0009891 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0010669 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0011024 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0012719 ORPHA:1340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0100840 ORPHA:1340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1340 Cardiofaciocutaneous syndrome HP:0200102 ORPHA:1340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0002925 ORPHA:95717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0031507 ORPHA:95717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0000270 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0001537 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0002019 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0004491 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0005930 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0006579 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0008828 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0008872 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0012758 ORPHA:95717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0000158 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0000282 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0001252 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0001254 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0001265 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0001662 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0002045 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0003265 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0005280 ORPHA:95717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0030057 ORPHA:95717 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0031219 ORPHA:95717 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:95717 Idiopathic congenital hypothyroidism HP:0031220 ORPHA:95717 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0040075 ORPHA:91350 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000505 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000870 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0007924 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0012505 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0030521 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0030591 ORPHA:91350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000044 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000238 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000830 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000871 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0002315 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0002516 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0007807 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0008240 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0011735 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0012246 ORPHA:91350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000651 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0000873 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0002170 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0004372 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0008245 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0030907 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts HP:0430022 ORPHA:91350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000252 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000340 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001511 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0008064 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0012471 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0012639 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0100679 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000062 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000135 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000153 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000211 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000232 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000288 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000316 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000400 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000457 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000520 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000951 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001176 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001302 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001305 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001321 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001331 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001339 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001371 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001460 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001558 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001561 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001769 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002126 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002179 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002269 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002334 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002536 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0003202 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0003241 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0003394 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0003560 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0007227 ORPHA:2671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000175 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000176 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000193 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000269 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000278 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000347 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000492 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000499 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000518 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000614 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000938 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0000939 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001059 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0001595 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002089 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002119 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002414 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002514 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002650 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002748 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002749 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002804 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0002983 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2671 Neu-Laxova syndrome HP:0030680 ORPHA:2671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001251 ORPHA:2672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001257 ORPHA:2672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001276 ORPHA:2672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0002063 ORPHA:2672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0003552 ORPHA:2672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001265 ORPHA:2672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001284 ORPHA:2672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0005692 ORPHA:2672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0100022 ORPHA:2672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0000708 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0001252 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0002300 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0002381 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0002381 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2672 Neuhauser-Eichner-Opitz syndrome HP:0010529 ORPHA:2672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000028 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000122 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000248 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000286 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000288 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000303 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000316 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000369 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000413 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000426 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000494 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000508 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0000767 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001131 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0005916 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001199 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001249 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001252 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001357 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0001511 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0030680 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0004322 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0008572 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0009811 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0009832 ORPHA:2673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0009896 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0009912 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0010650 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0011220 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2673 Neurofaciodigitorenal syndrome HP:0011830 ORPHA:2673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000830 ORPHA:91351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0002017 ORPHA:91351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0010885 ORPHA:91351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0011750 ORPHA:91351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000135 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000141 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000651 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000870 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000871 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000876 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0002331 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0003324 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0007663 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0010514 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0012505 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0030907 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0100829 ORPHA:91351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0000798 ORPHA:91351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0001250 ORPHA:91351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0001287 ORPHA:91351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0011442 ORPHA:91351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0011730 ORPHA:91351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0001117 ORPHA:91351 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91351 Pituitary dermoid and epidermoid cysts HP:0001959 ORPHA:91351 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000802 ORPHA:91354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000876 ORPHA:91354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002315 ORPHA:91354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000824 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000826 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000870 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0001250 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002921 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002960 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0007663 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0008245 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0011446 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0011748 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0030532 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0040075 ORPHA:91354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000651 ORPHA:91354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0000863 ORPHA:91354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002615 ORPHA:91354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002902 ORPHA:91354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0100661 ORPHA:91354 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome HP:0002893 ORPHA:91354 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0000280 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0001875 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0002721 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0004322 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0005599 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0006538 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0007443 ORPHA:90023 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0000158 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0000239 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0000271 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0000280 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0000820 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0000821 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0000952 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0001252 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0001263 ORPHA:95712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0001324 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0001510 ORPHA:95712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0001537 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0002019 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0003270 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0004322 ORPHA:95712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0010864 ORPHA:95712 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0100028 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95712 Thyroid ectopia HP:0100786 ORPHA:95712 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0000407 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001251 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001288 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001324 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001350 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001639 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0011342 ORPHA:1349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0000590 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0000597 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001268 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001298 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001635 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001644 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0002094 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0002151 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0003200 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0003457 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0003542 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0003546 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0012514 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0030680 ORPHA:1349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0000822 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001012 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0001347 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0002373 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0003326 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0009126 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0009830 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0012378 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0100749 ORPHA:1349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000455 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000689 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001363 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001385 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001510 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001627 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001629 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002282 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002342 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002465 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002540 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002650 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002711 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002714 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0003763 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0010864 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0010880 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0031936 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000175 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000193 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000280 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000405 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000407 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000411 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000430 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000476 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000508 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000540 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000637 ORPHA:352665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001252 ORPHA:352665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000028 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000076 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000126 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000158 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000194 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000252 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000276 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000431 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000545 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000586 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000587 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000589 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000609 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000821 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000938 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000975 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001250 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001274 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001284 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001315 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001324 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001388 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001548 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001631 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001647 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001762 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001763 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0001954 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002019 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002046 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002079 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002263 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002558 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002572 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002578 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002579 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002705 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0002877 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0003186 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0003388 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0003422 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0004389 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0004442 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0004443 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0004467 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0004942 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0005487 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0006481 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0007328 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0007655 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0008872 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0009794 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0009804 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0010297 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0010807 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0011147 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0011330 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0011470 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0011807 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0100259 ORPHA:352665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000098 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000276 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000307 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000316 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000347 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000365 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000407 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000430 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000431 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000448 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000486 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000494 ORPHA:90024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000664 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000668 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000687 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000691 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000698 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0001291 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0008499 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0008551 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0010609 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0011069 ORPHA:90024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia HP:0011372 ORPHA:90024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001249 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001263 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002151 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002919 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0003115 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0003236 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0003458 ORPHA:480864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000750 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001250 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001251 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001657 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001943 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001987 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002071 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002283 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002311 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002376 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002579 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002910 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0003128 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0004305 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0008223 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0008872 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0008942 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0011343 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0011675 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0031936 ORPHA:480864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000605 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000639 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000646 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000648 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001276 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001297 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001332 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001347 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002015 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002069 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002123 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002169 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002173 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0002384 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0003487 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0010818 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0011342 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0011344 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0012469 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0031165 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0045045 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0100704 ORPHA:480864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000252 ORPHA:480864 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000407 ORPHA:480864 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0030016 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0030018 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000407 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000651 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000872 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0001324 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0001513 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0001662 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0001962 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0002019 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0002321 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0002829 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0002902 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0003493 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0004396 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0007041 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0025143 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0030907 ORPHA:91355 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000709 ORPHA:91355 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000863 ORPHA:91355 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0001259 ORPHA:91355 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000871 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000876 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0008163 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0008240 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0011735 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0011748 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0012432 ORPHA:91355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000141 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000622 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000802 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000958 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0000980 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0001278 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0001895 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0001943 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0002018 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0002215 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0002225 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0002315 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0003158 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0003187 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0007987 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0008202 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0008213 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0008214 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0008245 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0011734 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91355 Sheehan syndrome HP:0012504 ORPHA:91355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0000047 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0000104 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0000110 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0000175 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0000202 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0000238 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0000766 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0000776 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0001171 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0001539 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0001629 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0001631 ORPHA:1335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0001636 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0001697 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0001748 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0001883 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0002084 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0002089 ORPHA:1335 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0002323 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0030680 ORPHA:1335 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0002650 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0002992 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0006501 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0011467 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1335 Pentalogy of Cantrell HP:0100335 ORPHA:1335 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000026 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000044 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000134 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000140 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000135 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000508 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000529 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000618 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000651 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000771 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000789 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000802 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000822 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000823 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000836 ORPHA:91347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000837 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000845 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000868 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000853 ORPHA:91347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000858 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000870 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000938 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000939 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000975 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000980 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0001117 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0001250 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0006824 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0001337 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0002315 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0001635 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0001698 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0001824 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0001962 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0002013 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0002017 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0002321 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0002615 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0002900 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0002920 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0002925 ORPHA:91347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0000044 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0003388 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0004308 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0005115 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0006897 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0007011 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0007942 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0008153 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0008247 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0008240 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0011362 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0011734 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0011735 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0011748 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0011782 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0012041 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0012246 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0012377 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0012378 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0012503 ORPHA:91347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0012505 ORPHA:91347 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0030018 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0030517 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0030521 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0030588 ORPHA:91347 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91347 TSH-secreting pituitary adenoma HP:0100639 ORPHA:91347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000010 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000142 ORPHA:1334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000153 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000159 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000478 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000504 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000682 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000790 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000951 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000962 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000988 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0000989 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0001231 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0001250 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0001597 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0001821 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0002105 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0002205 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0002715 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0002719 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0004306 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0004370 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0008388 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0008872 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0010783 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0012115 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0012735 ORPHA:1334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0030016 ORPHA:1334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0100825 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0200034 ORPHA:1334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1334 Chronic mucocutaneous candidiasis HP:0200042 ORPHA:1334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0000083 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0000093 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0000407 ORPHA:2668 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0000843 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0001903 ORPHA:2668 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0003072 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0012062 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome HP:0100820 ORPHA:2668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000026 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000044 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000053 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000134 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000135 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000140 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000508 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000529 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000618 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000651 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000802 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000824 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000830 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000837 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000858 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000871 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000846 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000863 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000868 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000873 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000980 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0001117 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0001250 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0006824 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0002013 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0002017 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0002050 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0002315 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0002321 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0002615 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0002920 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0000044 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0003388 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0006897 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0007011 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0007942 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0008202 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0008240 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0008245 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0008993 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0010972 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0011362 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0011734 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0011735 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0011748 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0011804 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0012041 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0012246 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0012377 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0012378 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0012503 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0030088 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0030018 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0030517 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0030521 ORPHA:91349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0040075 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91349 Non-functioning pituitary adenoma HP:0100639 ORPHA:91349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0000079 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0000126 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0000193 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0000405 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0001172 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0009611 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0010055 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0010097 ORPHA:2669 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0006725 ORPHA:1333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0001738 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0001824 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0002027 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0002039 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0003418 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0004396 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0012432 ORPHA:1333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0000952 ORPHA:1333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0002716 ORPHA:1333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0004389 ORPHA:1333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0005249 ORPHA:1333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0012334 ORPHA:1333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0000819 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0001433 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0002017 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0002254 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0002861 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0002896 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0002910 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0003002 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0003003 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0025318 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1333 Familial pancreatic carcinoma HP:0100592 ORPHA:1333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0002865 ORPHA:1332 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0003528 ORPHA:1332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0005994 ORPHA:1332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0000975 ORPHA:1332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0002014 ORPHA:1332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0002015 ORPHA:1332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0002716 ORPHA:1332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0001618 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0001824 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0002666 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0008200 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0010622 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0030146 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1332 Medullary thyroid carcinoma HP:0100526 ORPHA:1332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0011759 ORPHA:91348 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000140 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000505 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000789 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000802 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000830 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0001123 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0012378 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0030018 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0030088 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0040086 ORPHA:91348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000138 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000141 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000238 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000798 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000823 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000824 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000837 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000863 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000871 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000938 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0000939 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0001541 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0002050 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0002315 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0002625 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0002750 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0008236 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0008245 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0008675 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0009888 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0011748 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0012246 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91348 Functioning gonadotropic adenoma HP:0100829 ORPHA:91348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0011577 ORPHA:1330 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001653 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001962 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0002205 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0002875 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0009020 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0030148 ORPHA:1330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001279 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001636 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001643 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001647 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001650 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001680 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001681 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001692 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001702 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0001719 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0002326 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0004383 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0004749 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0006689 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0010772 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0011565 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0030853 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1330 Partial atrioventricular septal defect HP:0031298 ORPHA:1330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0100627 ORPHA:95706 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0000028 ORPHA:95706 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0012435 ORPHA:95706 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0000048 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0000054 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0000175 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0000716 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0000739 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0000776 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0000818 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0001539 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0002023 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0002032 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0008226 ORPHA:95706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0001518 ORPHA:95706 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95706 Non-syndromic posterior hypospadias HP:0008722 ORPHA:95706 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95707 Idiopathic isolated micropenis HP:0000054 ORPHA:95707 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:95707 Idiopathic isolated micropenis HP:0000047 ORPHA:95707 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:95707 Idiopathic isolated micropenis HP:0000062 ORPHA:95707 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0000256 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0000286 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0000316 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0000327 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0000337 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0000407 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0000426 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0000508 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0000708 ORPHA:2662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0001609 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0002263 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0030680 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0004209 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0004322 ORPHA:2662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0005280 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0009836 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0009882 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0010059 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0010109 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0010185 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0010624 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0010804 ORPHA:2662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0011304 ORPHA:2662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2662 Keipert syndrome HP:0100543 ORPHA:2662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2663 Nathalie syndrome HP:0000407 ORPHA:2663 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2663 Nathalie syndrome HP:0000518 ORPHA:2663 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2663 Nathalie syndrome HP:0004322 ORPHA:2663 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2663 Nathalie syndrome HP:0011675 ORPHA:2663 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0000028 ORPHA:1338 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0001233 ORPHA:1338 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0001643 ORPHA:1338 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0001682 ORPHA:1338 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0011802 ORPHA:1338 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0100835 ORPHA:1338 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1336 Hyperkeratosis-hyperpigmentation syndrome HP:0000962 ORPHA:1336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1336 Hyperkeratosis-hyperpigmentation syndrome HP:0000992 ORPHA:1336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1336 Hyperkeratosis-hyperpigmentation syndrome HP:0007400 ORPHA:1336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1336 Hyperkeratosis-hyperpigmentation syndrome HP:0007565 ORPHA:1336 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1336 Hyperkeratosis-hyperpigmentation syndrome HP:0200034 ORPHA:1336 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001511 ORPHA:86822 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001561 ORPHA:86822 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0000252 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0000282 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001302 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001321 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001338 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001339 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001762 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0002089 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0002134 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0002365 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0002804 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0003330 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0003405 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0006827 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0006872 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0007190 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0008178 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0009882 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0010049 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0010655 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0012697 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000750 ORPHA:500055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001263 ORPHA:500055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001999 ORPHA:500055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0410263 ORPHA:500055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000135 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000565 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000718 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000729 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001249 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001250 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001252 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001288 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001319 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001508 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0002020 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0002079 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0002099 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0004322 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0007018 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0007082 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0008872 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0012450 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0012762 ORPHA:500055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000028 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000054 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000238 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000248 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000252 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000365 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000486 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000545 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000639 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001344 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001357 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001371 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001385 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001558 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0001773 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0002028 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0002033 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0002119 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0002360 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0002650 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0002808 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0004482 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0006970 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0008770 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0010535 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0012166 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0025160 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0025502 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0100710 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0200055 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0011356 ORPHA:293812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0010783 ORPHA:293812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0025474 ORPHA:293812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0020172 ORPHA:293812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0000953 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0000155 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0011354 ORPHA:293812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0010280 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0007473 ORPHA:293812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0003341 ORPHA:293812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0410323 ORPHA:293812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0008066 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0200041 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0032565 ORPHA:293812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0032156 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0001945 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0025143 ORPHA:293812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293812 Fixed drug eruption HP:0012378 ORPHA:293812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86820 Familial avascular necrosis of femoral head HP:0003366 ORPHA:86820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86820 Familial avascular necrosis of femoral head HP:0031520 ORPHA:86820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86820 Familial avascular necrosis of femoral head HP:0007311 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86820 Familial avascular necrosis of femoral head HP:0008800 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86820 Familial avascular necrosis of femoral head HP:0008812 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86820 Familial avascular necrosis of femoral head HP:0008843 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86820 Familial avascular necrosis of femoral head HP:0030838 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86820 Familial avascular necrosis of femoral head HP:0031058 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86820 Familial avascular necrosis of femoral head HP:0100559 ORPHA:86820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000365 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000473 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000716 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000739 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001251 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001300 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001348 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001761 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001762 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002063 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002066 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002067 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002071 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002174 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002360 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002395 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002451 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0003487 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0003785 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0004373 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0008297 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0012378 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0045007 ORPHA:98808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000666 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000722 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000821 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0000822 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001370 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002166 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002601 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0002650 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0005876 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0007325 ORPHA:98808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98808 Autosomal dominant dopa-responsive dystonia HP:0001249 ORPHA:98808 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000160 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000189 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000324 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000347 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000348 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000486 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000508 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000520 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0001387 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0001511 ORPHA:1323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0002162 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0002683 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0002650 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0003272 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0003307 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0003422 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0004322 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0004422 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0005048 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0006101 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0100490 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0100555 ORPHA:1323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0001332 ORPHA:98809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0002072 ORPHA:98809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0002305 ORPHA:98809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0004305 ORPHA:98809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0100660 ORPHA:98809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0011157 ORPHA:98809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0001250 ORPHA:98809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0002076 ORPHA:98809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98809 Paroxysmal kinesigenic dyskinesia HP:0002356 ORPHA:98809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000239 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000256 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000270 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000303 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000316 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000337 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000400 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000453 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000682 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000944 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001156 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001249 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001263 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001328 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001582 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0002684 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0002750 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0003103 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0003510 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0004279 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0004437 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0005465 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0005692 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0006101 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0006660 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0007495 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0008065 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0009773 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0011001 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0011002 ORPHA:2658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000023 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000028 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000036 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000039 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000047 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000154 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000614 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0005916 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001167 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0003070 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0010628 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0012471 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0100541 ORPHA:2658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000135 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000175 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000176 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000193 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0000238 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001252 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001274 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001331 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001376 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001804 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0001812 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0002650 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0002705 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0002808 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2658 Lenz-Majewski hyperostotic dwarfism HP:0003241 ORPHA:2658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0000707 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0001332 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0002059 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0002500 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0002758 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0003445 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0003458 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0005108 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0100285 ORPHA:1320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0000234 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0001300 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0003236 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0003444 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0006959 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0007354 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0012647 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0100022 ORPHA:1320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0002134 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0002145 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0002486 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0002511 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0002715 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0003396 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0003398 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0003416 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0003737 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0007361 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0012486 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0012548 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0030113 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0030197 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0100315 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1320 Idiopathic camptocormia HP:0100614 ORPHA:1320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0000643 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0000726 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0002015 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0001618 ORPHA:98805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0007325 ORPHA:98805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0012049 ORPHA:98805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0000182 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0000194 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0000473 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0001288 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0003782 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0009938 ORPHA:98805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0002075 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0002098 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0002751 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0004305 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98805 Primary dystonia, DYT4 type HP:0007351 ORPHA:98805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98806 Primary dystonia, DYT6 type HP:0001332 ORPHA:98806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98806 Primary dystonia, DYT6 type HP:0007325 ORPHA:98806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98806 Primary dystonia, DYT6 type HP:0001260 ORPHA:98806 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98806 Primary dystonia, DYT6 type HP:0000473 ORPHA:98806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98806 Primary dystonia, DYT6 type HP:0000643 ORPHA:98806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98806 Primary dystonia, DYT6 type HP:0012049 ORPHA:98806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98806 Primary dystonia, DYT6 type HP:0012179 ORPHA:98806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98806 Primary dystonia, DYT6 type HP:0031008 ORPHA:98806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98806 Primary dystonia, DYT6 type HP:0002451 ORPHA:98806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0004373 ORPHA:98807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0001609 ORPHA:98807 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0007325 ORPHA:98807 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0000473 ORPHA:98807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0000733 ORPHA:98807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0001304 ORPHA:98807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0002172 ORPHA:98807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0004305 ORPHA:98807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0001332 ORPHA:98807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0002451 ORPHA:98807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0006961 ORPHA:98807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0012179 ORPHA:98807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0002174 ORPHA:98807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98807 Primary dystonia, DYT13 type HP:0002345 ORPHA:98807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0002034 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0002573 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0002597 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0003549 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0004296 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0005224 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0025015 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0100590 ORPHA:70475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0002014 ORPHA:70475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0005214 ORPHA:70475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0012089 ORPHA:70475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0012702 ORPHA:70475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70475 Radiation proctitis HP:0100806 ORPHA:70475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0000010 ORPHA:93110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0010957 ORPHA:93110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0012622 ORPHA:93110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0000076 ORPHA:93110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0000126 ORPHA:93110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0000020 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0000083 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0000822 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0003774 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0008718 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0008897 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0010677 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0010945 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0012330 ORPHA:93110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0000016 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0000278 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0000316 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0001254 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0001562 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0005105 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0008661 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93110 Posterior urethral valve HP:0100518 ORPHA:93110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70476 Vernal keratoconjunctivitis HP:0000481 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70476 Vernal keratoconjunctivitis HP:0000502 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70476 Vernal keratoconjunctivitis HP:0000591 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70476 Vernal keratoconjunctivitis HP:0000613 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70476 Vernal keratoconjunctivitis HP:0000632 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70476 Vernal keratoconjunctivitis HP:0000989 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70476 Vernal keratoconjunctivitis HP:0011496 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70476 Vernal keratoconjunctivitis HP:0011859 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70476 Vernal keratoconjunctivitis HP:0012393 ORPHA:70476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70476 Vernal keratoconjunctivitis HP:0100699 ORPHA:70476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000003 ORPHA:93111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000047 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000083 ORPHA:93111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000085 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000104 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000303 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000365 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000813 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000819 ORPHA:93111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000821 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000952 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001249 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001263 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001369 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001397 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001919 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001959 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0001994 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0002021 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0002149 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0002910 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0005584 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0005692 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0009715 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0012092 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0012093 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0012873 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0100800 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0100820 ORPHA:93111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0001674 ORPHA:1329 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0010445 ORPHA:1329 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0001508 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0003115 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0005120 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0012382 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0025447 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0030950 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0030973 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0031650 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0031664 ORPHA:1329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0000961 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0000975 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0001635 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0001640 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0001649 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0001667 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0001708 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0002240 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0002789 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0006532 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0011968 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0030828 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0030864 ORPHA:1329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0001254 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0001678 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0004890 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0011712 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0030830 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0030848 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0031595 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0031658 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0100786 ORPHA:1329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1329 Complete atrioventricular septal defect HP:0001999 ORPHA:1329 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000016 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000135 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000365 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000501 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000520 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000648 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000670 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000684 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000763 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000823 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000925 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000929 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0000940 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0001251 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0001324 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0001376 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0001533 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0001639 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0001744 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0001763 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0001882 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0001903 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0001999 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002007 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002039 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002167 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002240 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002515 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002644 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002650 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002652 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002653 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002673 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002808 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002818 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002823 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002857 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0002992 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0040071 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0003063 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0003202 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0003307 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0003565 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0004326 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0005464 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0005791 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0006501 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0007552 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0007807 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0008872 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0010628 ORPHA:1328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0012544 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0100255 ORPHA:1328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1328 Camurati-Engelmann disease HP:0100774 ORPHA:1328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000160 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000218 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000248 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000252 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000275 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000276 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000286 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000303 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000368 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000463 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000482 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000506 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000581 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000664 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000689 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000767 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000768 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000774 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000960 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000995 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001156 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001249 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001250 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001263 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001511 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001770 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001822 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0001831 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0002414 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0002553 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0002714 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0002750 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0002967 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0003196 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0003312 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0003691 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0004322 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0005280 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0006292 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0008551 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0009882 ORPHA:1327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0009891 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0009907 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0010807 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0011800 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0012368 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0100490 ORPHA:1327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001252 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001263 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001508 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001942 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002151 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002401 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002490 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0003128 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0008347 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0012379 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001263 ORPHA:70472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001250 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001251 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001257 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001324 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001397 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001410 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001639 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002072 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002344 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002376 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002465 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002540 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0003688 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0007183 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0009830 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0010841 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0011203 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0100022 ORPHA:70472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0000248 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001290 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001627 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001635 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001999 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002015 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002020 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002060 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002310 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002870 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0002878 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0005599 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0007325 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0010536 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0011471 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0012243 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0100660 ORPHA:70472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0000066 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0000252 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0000767 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0001511 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0001762 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0001885 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0002827 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0003065 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0004322 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0004634 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0005643 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0011917 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0100490 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000077 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000238 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000256 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000365 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000369 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000494 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000520 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000774 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000926 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000944 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0000956 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0001156 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0001250 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0001252 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0001385 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0001387 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0001511 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0001561 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0001582 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0001631 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0001643 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002007 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002089 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002093 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002119 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002187 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002282 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0030680 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002652 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002676 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002808 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002867 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0002983 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0005280 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0005692 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0008873 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0010306 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0010880 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0011800 ORPHA:2655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0012368 ORPHA:2655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2655 Thanatophoric dysplasia HP:0100781 ORPHA:2655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1325 Camptodactyly-taurinuria syndrome HP:0001836 ORPHA:1325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1325 Camptodactyly-taurinuria syndrome HP:0003166 ORPHA:1325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1325 Camptodactyly-taurinuria syndrome HP:0003355 ORPHA:1325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1325 Camptodactyly-taurinuria syndrome HP:0100490 ORPHA:1325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000496 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000639 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001249 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001250 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001251 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001257 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001268 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001276 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001324 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001332 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001508 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001626 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001635 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001639 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001644 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002015 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002033 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002086 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002098 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002104 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002119 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002151 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002283 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002363 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002490 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002538 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002878 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0006999 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0007110 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0007159 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0007941 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0008947 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0012758 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0030085 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0100660 ORPHA:70474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000091 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000104 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000110 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000365 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000488 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000505 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000570 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000602 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000648 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001263 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001410 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001488 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001642 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001653 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001903 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0001947 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002072 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002339 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002376 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002415 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0002453 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0004305 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0007204 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0009830 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0010663 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0012707 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0025045 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0031546 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0200147 ORPHA:70474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70474 Leigh syndrome with cardiomyopathy HP:0000998 ORPHA:70474 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000083 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000093 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000233 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000272 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000365 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000463 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000486 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000494 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000545 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000944 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0001182 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0001252 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0001595 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0001643 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0001646 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0002907 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0004445 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0005280 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0010864 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0011069 ORPHA:86818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0012471 ORPHA:86818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0100820 ORPHA:86818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0001249 ORPHA:86814 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0001336 ORPHA:86814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0002197 ORPHA:86814 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0002315 ORPHA:86814 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0002353 ORPHA:86814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0002378 ORPHA:86814 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0007359 ORPHA:86814 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86814 Benign adult familial myoclonic epilepsy HP:0100576 ORPHA:86814 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0000253 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0000486 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0000733 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0001252 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0001270 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002355 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0011968 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0100660 ORPHA:561854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0000505 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0000729 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0000749 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0000817 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0001257 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0001266 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0001273 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0001332 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0001336 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0001344 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002019 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002020 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002069 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002310 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002360 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002487 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0003763 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0003781 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0004322 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0004325 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0007359 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0008850 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0011344 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0012448 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0012469 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0030215 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0100022 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0100543 ORPHA:561854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0000735 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0001274 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0001302 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002079 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002376 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002465 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002540 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002650 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002751 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002795 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0007766 ORPHA:561854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0002133 ORPHA:561854 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:561854 FOXG1 syndrome HP:0012171 ORPHA:561854 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0000969 ORPHA:86816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0003073 ORPHA:86816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0001518 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0001622 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0003075 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0003077 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0003124 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0005413 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0009125 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0010702 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0010741 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0012378 ORPHA:86816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0000282 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0001513 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0001562 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0002783 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0005268 ORPHA:86816 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0011342 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86816 Congenital analbuminemia HP:0030851 ORPHA:86816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002355 ORPHA:86812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003551 ORPHA:86812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0000252 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0000750 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0001249 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002515 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002938 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003236 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003391 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003557 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003560 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003687 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003701 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003733 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0008981 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0000729 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0001319 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0001638 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0001712 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002027 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002094 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002098 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0002650 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003198 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003306 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003325 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003388 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003700 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0003803 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0010794 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0012735 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0031108 ORPHA:86812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293807 Ketamine-induced biliary dilatation HP:0000738 ORPHA:293807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293807 Ketamine-induced biliary dilatation HP:0002027 ORPHA:293807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293807 Ketamine-induced biliary dilatation HP:0012440 ORPHA:293807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293807 Ketamine-induced biliary dilatation HP:0100518 ORPHA:293807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1313 Infantile choroidocerebral calcification syndrome HP:0000486 ORPHA:1313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1313 Infantile choroidocerebral calcification syndrome HP:0001250 ORPHA:1313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1313 Infantile choroidocerebral calcification syndrome HP:0001347 ORPHA:1313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1313 Infantile choroidocerebral calcification syndrome HP:0002514 ORPHA:1313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1313 Infantile choroidocerebral calcification syndrome HP:0010864 ORPHA:1313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0000023 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0000028 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0000316 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0000347 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0000411 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0000453 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0000463 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0000889 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0001156 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0001249 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0001363 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0001531 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0002650 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0002750 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0003312 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0003510 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0006283 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0008905 ORPHA:2645 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0009804 ORPHA:2645 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2645 Osteoglosphonic dysplasia HP:0011849 ORPHA:2645 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93109 Congenital megacalycosis HP:0100581 ORPHA:93109 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93109 Congenital megacalycosis HP:0000010 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93109 Congenital megacalycosis HP:0000105 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93109 Congenital megacalycosis HP:0000107 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93109 Congenital megacalycosis HP:0000126 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93109 Congenital megacalycosis HP:0000790 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93109 Congenital megacalycosis HP:0001970 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93109 Congenital megacalycosis HP:0012211 ORPHA:93109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93109 Congenital megacalycosis HP:0000787 ORPHA:93109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93109 Congenital megacalycosis HP:0006000 ORPHA:93109 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0000324 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0000520 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0000708 ORPHA:1310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0001945 ORPHA:1310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0002093 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0002650 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0004490 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0005731 ORPHA:1310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0005791 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0006465 ORPHA:1310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0008872 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0010702 ORPHA:1310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0100658 ORPHA:1310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1310 Caffey disease HP:0100963 ORPHA:1310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000003 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000009 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000091 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0008678 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0011130 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0012575 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0012622 ORPHA:93108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000010 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000020 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000070 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000072 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000076 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000083 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000105 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000126 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0000822 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0001562 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0002027 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0004722 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0005999 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0012300 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0012330 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0012596 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0030157 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0031500 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0031501 ORPHA:93108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0001586 ORPHA:93108 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93108 Renal dysplasia HP:0010957 ORPHA:93108 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1319 Camptobrachydactyly HP:0001153 ORPHA:1319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1319 Camptobrachydactyly HP:0001156 ORPHA:1319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1319 Camptobrachydactyly HP:0001231 ORPHA:1319 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1319 Camptobrachydactyly HP:0001770 ORPHA:1319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1319 Camptobrachydactyly HP:0001800 ORPHA:1319 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1319 Camptobrachydactyly HP:0006101 ORPHA:1319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1319 Camptobrachydactyly HP:0009465 ORPHA:1319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1319 Camptobrachydactyly HP:0009601 ORPHA:1319 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1319 Camptobrachydactyly HP:0100490 ORPHA:1319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0000083 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0000091 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0005563 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0011035 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0012210 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0012622 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0030162 ORPHA:93101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0000010 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0000069 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0000076 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0000093 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0000122 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0000125 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0000126 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0000822 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0001518 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0001622 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0001944 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0001959 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93101 Renal hypoplasia HP:0010481 ORPHA:93101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0000003 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0000175 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0000268 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0000280 ORPHA:1318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0000476 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0000765 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0000772 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0001004 ORPHA:1318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0001156 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0001522 ORPHA:1318 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0001562 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0001732 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0001737 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0001789 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0002240 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0002242 ORPHA:1318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0030680 ORPHA:1318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0002652 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0002863 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0002983 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0005562 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0006487 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0007495 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0008056 ORPHA:1318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0010781 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0100569 ORPHA:1318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1318 Campomelia, Cumming type HP:0100760 ORPHA:1318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0000464 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0001513 ORPHA:70482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0001608 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0001824 ORPHA:70482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0002015 ORPHA:70482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0002020 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0002242 ORPHA:70482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0002716 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0012735 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0100247 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0100580 ORPHA:70482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0100749 ORPHA:70482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70482 Carcinoma of esophagus HP:0100751 ORPHA:70482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0000252 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0000494 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0000518 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0000772 ORPHA:2643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0001156 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0001249 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0001252 ORPHA:2643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0001511 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0001875 ORPHA:2643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0002119 ORPHA:2643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0002205 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0002714 ORPHA:2643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0002750 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0002850 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0003510 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0004315 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0005930 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0006297 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0001251 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0001257 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0001276 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0001315 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0001612 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0002093 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0002353 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0002514 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0100543 ORPHA:1314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0000252 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0001250 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0001508 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0001561 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0001608 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0002269 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1314 Symmetrical thalamic calcifications HP:0011675 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0000486 ORPHA:2634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0000545 ORPHA:2634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0002983 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0002992 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0040071 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0003022 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0003038 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0003042 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0003048 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0003498 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0005048 ORPHA:2634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0009465 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0010781 ORPHA:2634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0007099 ORPHA:268882 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002315 ORPHA:268882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002331 ORPHA:268882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0030833 ORPHA:268882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0040010 ORPHA:268882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0000360 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0000639 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0001293 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0001605 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002015 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002066 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002073 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002196 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002321 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002395 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002516 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002650 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002949 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0003396 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0003474 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0004602 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0004608 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0006824 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0007067 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0009591 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0010558 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0010825 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0010826 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0011389 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0012046 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0012534 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0025258 ORPHA:268882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0000020 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0000613 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0000651 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0001324 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0001437 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0002512 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0003487 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0005758 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0008615 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0010536 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0012366 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268882 Arnold-Chiari malformation type I HP:0030195 ORPHA:268882 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0012735 ORPHA:1302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0001945 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0001974 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0002039 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0002091 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0002094 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0003565 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0011897 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0012378 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0025179 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0030830 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0031246 ORPHA:1302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0000961 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0001824 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0002105 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0011227 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0030828 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0031994 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0032016 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0100749 ORPHA:1302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0002098 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0002107 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0002829 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0012418 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0025421 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1302 Cryptogenic organizing pneumonia HP:0030166 ORPHA:1302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0000175 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0000238 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0000348 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0000368 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0000518 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0000772 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0000774 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0000944 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0001387 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0002650 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0002652 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0002808 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0002826 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0002983 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0003103 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0003312 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0003336 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0003510 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0004209 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0005108 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0005280 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0006703 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0008434 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0100490 ORPHA:2635 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0100670 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2635 Metatropic dysplasia HP:0100818 ORPHA:2635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000028 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000046 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000048 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000059 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000062 ORPHA:1300 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000175 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000219 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000347 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000453 ORPHA:1300 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0000772 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0001171 ORPHA:1300 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0001328 ORPHA:1300 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0001387 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0001597 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0001770 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0002230 ORPHA:1300 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0002650 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0006101 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0008288 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0009754 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0009755 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0009756 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0100267 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1300 Autosomal dominant popliteal pterygium syndrome HP:0100335 ORPHA:1300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000072 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000077 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000079 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000126 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000252 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000269 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000278 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000347 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000358 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000369 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000414 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000448 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000470 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000501 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000520 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000924 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000938 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000939 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000944 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0008070 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001156 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0005916 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001167 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001176 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001249 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001250 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001257 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001263 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001276 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001328 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001511 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001596 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0001622 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002063 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002094 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002121 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002133 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002748 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002749 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002750 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002878 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0002983 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0003172 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0003189 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0003312 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0003510 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0003552 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0004279 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0005108 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0005613 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0006660 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0007598 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0008818 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0009832 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0009836 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0010443 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0010935 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0011097 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0011457 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0045074 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0100530 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0100569 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000028 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000175 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000176 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000193 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000268 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000272 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000340 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000474 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000494 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0004209 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0009912 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0012471 ORPHA:2636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000055 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000252 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000278 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000293 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000369 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000407 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000430 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000431 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000448 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000494 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000691 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000826 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000944 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000958 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001053 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001156 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001249 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001250 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001263 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001297 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001511 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001601 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001611 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001620 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001631 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001643 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001903 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0001956 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002079 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002119 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002205 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002213 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002617 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002650 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002750 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002777 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002812 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002866 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0002983 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0003275 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0003498 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0004209 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0005692 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0005930 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0007018 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0007565 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0009804 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0009906 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0045025 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0100545 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0100659 ORPHA:2637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0100840 ORPHA:2637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0000446 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0001156 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0001172 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0001376 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0002818 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0002983 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0002992 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0040071 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0003272 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0004322 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0005048 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0005930 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0006492 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0007598 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome HP:0008368 ORPHA:2639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000365 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000508 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000537 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0002553 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0002974 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0006394 ORPHA:293843 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000202 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000316 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000494 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000506 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000581 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000593 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0001249 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0001363 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0001540 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0002265 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0002558 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0002650 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0002714 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0003298 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0003307 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0008689 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0008897 ORPHA:293843 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000369 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0000377 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0001537 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0002825 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0002827 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0005105 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293843 3MC syndrome HP:0040016 ORPHA:293843 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0000952 ORPHA:90062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001404 ORPHA:90062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002910 ORPHA:90062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0012115 ORPHA:90062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0000713 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0000846 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0000978 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001289 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001350 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0000712 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001873 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001943 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001987 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002013 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002014 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002018 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002329 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002605 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002614 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002615 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002793 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002795 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0003225 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0003256 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0008151 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0008169 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0008321 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0030977 ORPHA:90062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0000716 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0000988 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001250 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001251 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001259 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001298 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001892 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001919 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001941 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001945 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0001948 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002170 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002181 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002239 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002311 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002516 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002625 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0002883 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0007021 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0012417 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0031273 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90062 Acute liver failure HP:0031844 ORPHA:90062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1309 Medullary sponge kidney HP:0000787 ORPHA:1309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1309 Medullary sponge kidney HP:0000790 ORPHA:1309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1309 Medullary sponge kidney HP:0001528 ORPHA:1309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1309 Medullary sponge kidney HP:0002150 ORPHA:1309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1309 Medullary sponge kidney HP:0008341 ORPHA:1309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000003 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000028 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000085 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000175 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000191 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000212 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000218 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000233 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000243 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000252 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000286 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000319 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000343 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000347 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000368 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000463 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000470 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000486 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000582 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000767 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000776 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0000960 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001161 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001249 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001250 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001252 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001373 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001376 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001522 ORPHA:1308 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001531 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001539 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001561 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001582 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001770 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0001883 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0002019 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0030680 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0002983 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0003083 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0003196 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0004209 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0004322 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0004378 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0004422 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0005280 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0007370 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0007598 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0007601 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0008678 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0010318 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0010458 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0010720 ORPHA:1308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0010978 ORPHA:1308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1308 C syndrome HP:0100720 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0000980 ORPHA:90064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0009763 ORPHA:90064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0011121 ORPHA:90064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0012514 ORPHA:90064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0025018 ORPHA:90064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0001974 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0003401 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0003690 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0006937 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0030846 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0031271 ORPHA:90064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0001297 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0001658 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0001941 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0003470 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0004755 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90064 Acute peripheral arterial occlusion HP:0100758 ORPHA:90064 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000028 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000083 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000089 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000093 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000160 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000171 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000175 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000218 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000256 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000308 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000327 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000368 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000405 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000407 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000426 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000545 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000639 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0000691 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0005916 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0001839 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0002342 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0002916 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0040071 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0003019 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0003028 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0004322 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0006501 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0008368 ORPHA:1307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0009601 ORPHA:1307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1307 Distal limb deficiencies-micrognathia syndrome HP:0012165 ORPHA:1307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0009145 ORPHA:90065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0000822 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001133 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001259 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001342 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002013 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002018 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002315 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002354 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0012250 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0100543 ORPHA:90065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0000238 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0000505 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0000821 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001250 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001279 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001635 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001658 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001712 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0001974 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002140 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002344 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002490 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0002637 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0003074 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0003124 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0004302 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0005184 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0006824 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0030955 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0031058 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0031885 ORPHA:90065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage HP:0040075 ORPHA:90065 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0010739 ORPHA:1306 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0100898 ORPHA:1306 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0000944 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0001482 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0002652 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0002653 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0003330 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0004322 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0005469 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0005789 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0005930 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0007513 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0100774 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0200034 ORPHA:1306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0001371 ORPHA:1306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0001387 ORPHA:1306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0100324 ORPHA:1306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0000083 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0000164 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0000365 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0000486 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0000505 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0000822 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0000982 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0000987 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0001004 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0001028 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0001369 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0001609 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0001679 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0002757 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0002829 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0003326 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0007488 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0009055 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0009121 ORPHA:1306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0001363 ORPHA:1306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1306 Buschke-Ollendorff syndrome HP:0010554 ORPHA:1306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000028 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000252 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000286 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000316 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000325 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000543 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000649 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000708 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000713 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000729 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000750 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0001263 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000767 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0010554 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0001249 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0001252 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000964 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0004322 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0002079 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0002119 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0002123 ORPHA:314389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0002521 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000232 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0002788 ORPHA:314389 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0003236 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0003282 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0003700 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0004691 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0005280 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0001054 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0007328 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0009908 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0011265 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0011343 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0012751 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0030353 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0100739 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0000202 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0000252 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0000347 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0000407 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0000463 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0001156 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0001249 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0001643 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0001734 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0001743 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0001770 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0001822 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0002032 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0002247 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0003312 ORPHA:1305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0004209 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0004322 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0005280 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0008572 ORPHA:1305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0009468 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1305 Feingold syndrome HP:0012745 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000175 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000233 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000278 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000368 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000396 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000944 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0002089 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0002101 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0003027 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0003042 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0003272 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0003422 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0005916 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0005930 ORPHA:2631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0006487 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0010781 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0100490 ORPHA:2631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0000218 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0001191 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0002983 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0040071 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0003067 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0003510 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0005026 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0005930 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0006487 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0006492 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0008873 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0009465 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2632 Langer mesomelic dysplasia HP:0100864 ORPHA:2632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001392 ORPHA:1304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0000975 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001369 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001744 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001824 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001882 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001903 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001945 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002018 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002039 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002240 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002829 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0003095 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0003237 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0003565 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0011024 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0011227 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0012378 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0025155 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0025406 ORPHA:1304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0000031 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0000099 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0000119 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0000707 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0000716 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0000951 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0000979 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001508 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001518 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001622 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001873 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001971 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001974 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002011 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002013 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002027 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002090 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002202 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002315 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002716 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002754 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002923 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0003496 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0005086 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0005268 ORPHA:1304 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0005561 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0008843 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0009830 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0012252 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0012317 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0012387 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0025143 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0025245 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0030350 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0032252 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0100326 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0100523 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0100796 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0410008 ORPHA:1304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0000708 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001626 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001646 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001701 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0001894 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002072 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002326 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0002383 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0004418 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0012089 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0012122 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0012424 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0012819 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0025044 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0030250 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0031910 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0032620 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1304 Brucellosis HP:0100584 ORPHA:1304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0000709 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0000713 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0000725 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0000822 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0000975 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0001649 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0001945 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0011499 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0011999 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0100749 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0100754 ORPHA:90068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0000093 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0001658 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002013 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002018 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002027 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002107 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002113 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002789 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0003236 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0004372 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0005115 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0006803 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0008765 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0012735 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0025421 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0025435 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0030157 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0030828 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0031258 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0100598 ORPHA:90068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0000099 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0000746 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0000790 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0001250 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0001259 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0001337 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0001342 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0001657 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0001919 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0001970 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002069 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002098 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002105 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002133 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002138 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002140 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002583 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002615 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002647 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0002883 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0003201 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0004305 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0004308 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0005244 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0005521 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0006677 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0007359 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0011106 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0011151 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0025085 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0025420 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90068 Cocaine intoxication HP:0031368 ORPHA:90068 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0000248 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0000268 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0000486 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0000960 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0001249 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0001376 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002650 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002857 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002970 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002974 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002983 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002991 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0002992 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0040071 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0003019 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0003027 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0003042 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0004209 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0006101 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0006501 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0007598 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0008368 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0008845 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0010781 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0100490 ORPHA:2633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2633 Mesomelic dysplasia, Nievergelt type HP:0100729 ORPHA:2633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0002094 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0006536 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0011946 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0012418 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0012735 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0030877 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0032341 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0032342 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0032359 ORPHA:1303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0002090 ORPHA:1303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0011947 ORPHA:1303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0031246 ORPHA:1303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0045051 ORPHA:1303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0002110 ORPHA:1303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0002960 ORPHA:1303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease HP:0025179 ORPHA:1303 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0002113 ORPHA:90060 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0001824 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0001903 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0001945 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0002105 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0002960 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0003565 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0012735 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0025179 ORPHA:90060 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0000093 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0000152 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0000707 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0000790 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0000924 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0000951 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0001873 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0001974 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0002094 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0002923 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0003259 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0003453 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0003493 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0003613 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0004887 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0005421 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0012418 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0045042 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0045050 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0100749 ORPHA:90060 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0002091 ORPHA:90060 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0002206 ORPHA:90060 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0006536 ORPHA:90060 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0025174 ORPHA:90060 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90060 Diffuse alveolar hemorrhage HP:0030950 ORPHA:90060 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001518 ORPHA:90051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001622 ORPHA:90051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001649 ORPHA:90051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0010978 ORPHA:90051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0040187 ORPHA:90051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0000980 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001319 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001875 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001942 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001945 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001974 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0002094 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0002579 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0003270 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0004325 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0011227 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0011410 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0012719 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0030783 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0031602 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0032169 ORPHA:90051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0000236 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0000952 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0000961 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0000967 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0000969 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0000979 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001250 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001265 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001287 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001410 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001662 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001744 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001873 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001892 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0001903 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0002013 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0002014 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0002240 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0002615 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0004387 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0004713 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0002795 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0005968 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0030863 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0100520 ORPHA:90051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0011880 ORPHA:90051 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90051 Sepsis in premature infants HP:0031696 ORPHA:90051 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000023 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000098 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000278 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000316 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000525 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000766 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000822 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000965 ORPHA:91387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0000978 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001166 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001297 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001640 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001643 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001647 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001659 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001677 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0001763 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002105 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002107 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002138 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002140 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002326 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002616 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002647 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002650 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002705 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0002875 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0003549 ORPHA:91387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004933 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004944 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0005112 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004959 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0005162 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004950 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004950 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0004950 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0011106 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0012163 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0012499 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0012763 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0100749 ORPHA:91387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0100775 ORPHA:91387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection HP:0200146 ORPHA:91387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000020 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000729 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000735 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000750 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001263 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002167 ORPHA:404448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000722 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000739 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001167 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001388 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002020 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002591 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0007018 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0008947 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0011343 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0011344 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0012443 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0012450 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0025160 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0200136 ORPHA:404448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000010 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000179 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000219 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000243 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000319 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000369 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000411 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000483 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000486 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000540 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000718 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000954 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001357 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001488 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001597 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001780 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001852 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001956 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002013 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002059 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002079 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002119 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002360 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002376 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002788 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002835 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0004322 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0005216 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0006288 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0006610 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0007042 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0008551 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0009890 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0010442 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0011342 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0011471 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0030680 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0100704 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0200006 ORPHA:404448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000023 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000028 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000248 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000252 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000577 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000612 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000637 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0000646 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001007 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001118 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001156 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001250 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001276 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0001537 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002098 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0002209 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0004691 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0005280 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0008935 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0010055 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404448 ADNP syndrome HP:0011304 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0025643 ORPHA:65250 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0003457 ORPHA:65250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0003419 ORPHA:65250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0003474 ORPHA:65250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0005107 ORPHA:65250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0012514 ORPHA:65250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0000020 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0000716 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0000789 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0002839 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0002936 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0003306 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0003401 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0003698 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0004302 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0009053 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0011868 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0012700 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0030014 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0030016 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0030943 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0031952 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0040307 ORPHA:65250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0000010 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0000802 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0002027 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0002315 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0002355 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0002540 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0002607 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0003394 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0005765 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0010835 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0012877 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0025238 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0030834 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0030838 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0031520 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0031826 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0100711 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0100749 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:65250 Perineural cyst HP:0500005 ORPHA:65250 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0000272 ORPHA:1885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0000303 ORPHA:1885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0000505 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0000518 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0000639 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0000646 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0000822 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0001083 ORPHA:1885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0001387 ORPHA:1885 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0009918 ORPHA:1885 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1885 Isolated ectopia lentis HP:0100543 ORPHA:1885 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0000407 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0000670 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0000962 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0001166 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0002208 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0002299 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0002650 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0002808 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0004322 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0007529 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0008070 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0009183 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0100490 ORPHA:1883 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome HP:0100543 ORPHA:1883 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0045075 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000632 ORPHA:1882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000708 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000821 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000966 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000995 ORPHA:1882 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0001596 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0001810 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0002205 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0002209 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0002213 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0002750 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0004322 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0008391 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0012265 ORPHA:1882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001622 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001631 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001635 ORPHA:1880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001643 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001645 ORPHA:1880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0001671 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0002093 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0030680 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0002637 ORPHA:1880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0004306 ORPHA:1880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0004420 ORPHA:1880 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0005110 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0010316 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0011575 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0011675 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0011712 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0012378 ORPHA:1880 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1880 Ebstein malformation of the tricuspid valve HP:0100749 ORPHA:1880 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0000238 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0000248 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0000256 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0000272 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0000316 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0000407 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0000508 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0000520 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0001034 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0001053 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0001263 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0001357 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0001773 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0002516 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0002705 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0004279 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0004440 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0005599 ORPHA:53271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0008368 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0009702 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53271 Muenke syndrome HP:0010579 ORPHA:53271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000407 ORPHA:314404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0030050 ORPHA:314404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000648 ORPHA:314404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0003287 ORPHA:314404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000020 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000518 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000639 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000716 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000763 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0001251 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0001257 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0001268 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0001272 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0001347 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002059 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002200 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002322 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002346 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002354 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002476 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002500 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002529 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0002921 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0003487 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0003550 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0007082 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0007366 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0009830 ORPHA:314404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000256 ORPHA:404443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0011407 ORPHA:404443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000708 ORPHA:404443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001513 ORPHA:404443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002342 ORPHA:404443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002751 ORPHA:404443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0008947 ORPHA:404443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000028 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000280 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000311 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000574 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000739 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001250 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001256 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001382 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001566 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001631 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001831 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002119 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002308 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002376 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0008094 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0010864 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0045025 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0100753 ORPHA:404443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000303 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000316 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0000718 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001537 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001643 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0001653 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002000 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002002 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0002616 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0003508 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0005180 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0007302 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0011688 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0012324 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404443 Tatton-Brown-Rahman syndrome HP:0100634 ORPHA:404443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000750 ORPHA:404440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001249 ORPHA:404440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002194 ORPHA:404440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0005105 ORPHA:404440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000343 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000369 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000431 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000463 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000729 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001252 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001488 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002714 ORPHA:404440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000028 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000175 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000190 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000193 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000219 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000248 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000294 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000319 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000347 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000486 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000494 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000540 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000545 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000568 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000581 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000582 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000722 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000739 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001250 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001627 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001629 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0001830 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002002 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002360 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002373 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002553 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002566 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002650 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0002808 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0004691 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0005280 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0007018 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0009836 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0010663 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0011968 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0012377 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0012450 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0012718 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0100259 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0100559 ORPHA:404440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0001248 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0001762 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0002093 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0002827 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0002999 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0003042 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0003063 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0003417 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0004976 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0006408 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0008417 ORPHA:56305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0000218 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0000347 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0001188 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0001263 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0001561 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0002990 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0003049 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0003862 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0003902 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0003974 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0005257 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0005619 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0005736 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0005905 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0006384 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56305 Atelosteogenesis type III HP:0008755 ORPHA:56305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0009826 ORPHA:56304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000175 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000470 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000773 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000774 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001156 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001193 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001230 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001234 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001591 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001602 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001776 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001840 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001852 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001999 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0002089 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0002786 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0002857 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0003097 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0003423 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0004991 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0005257 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0006009 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0006375 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0006385 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0008110 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0008752 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0008905 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0009803 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0009824 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0010049 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0012385 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0012427 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0100694 ORPHA:56304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000219 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000286 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000316 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000343 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000347 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000369 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0000506 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001357 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001538 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0001561 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0002947 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0002983 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0002987 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0004664 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0008434 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0011800 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0012810 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0100337 ORPHA:56304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56304 Atelosteogenesis type II HP:0003042 ORPHA:56304 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000726 ORPHA:412066 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000719 ORPHA:412066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002145 ORPHA:412066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002333 ORPHA:412066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002354 ORPHA:412066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0012757 ORPHA:412066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000736 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000739 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000741 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0001300 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002067 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002172 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002362 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002463 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002506 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002527 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0003552 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0007311 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0010794 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0030216 ORPHA:412066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0006892 ORPHA:412066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0002503 ORPHA:412066 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0007373 ORPHA:412066 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000750 ORPHA:412069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001249 ORPHA:412069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001252 ORPHA:412069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001263 ORPHA:412069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001270 ORPHA:412069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000486 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000925 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001250 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001251 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001273 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001388 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001508 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001999 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002474 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002781 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002870 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0011477 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0011968 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0012443 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0031936 ORPHA:412069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000316 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000347 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000365 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000369 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000385 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000411 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000490 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000494 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000565 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000582 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000717 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001363 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0001601 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002079 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002353 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002650 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0002779 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0004887 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0005280 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0006951 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0009909 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0012448 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0025267 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0025573 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0100704 ORPHA:412069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1873 Jalili syndrome HP:0000505 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1873 Jalili syndrome HP:0000551 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1873 Jalili syndrome HP:0000613 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1873 Jalili syndrome HP:0000639 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1873 Jalili syndrome HP:0000648 ORPHA:1873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1873 Jalili syndrome HP:0000682 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1873 Jalili syndrome HP:0000705 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1873 Jalili syndrome HP:0007703 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1873 Jalili syndrome HP:0011073 ORPHA:1873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1872 Cone rod dystrophy HP:0000505 ORPHA:1872 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1872 Cone rod dystrophy HP:0000551 ORPHA:1872 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1872 Cone rod dystrophy HP:0000613 ORPHA:1872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1872 Cone rod dystrophy HP:0000662 ORPHA:1872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1872 Cone rod dystrophy HP:0007703 ORPHA:1872 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1871 Progressive cone dystrophy HP:0000505 ORPHA:1871 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1871 Progressive cone dystrophy HP:0000512 ORPHA:1871 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1871 Progressive cone dystrophy HP:0000551 ORPHA:1871 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1871 Progressive cone dystrophy HP:0000613 ORPHA:1871 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1871 Progressive cone dystrophy HP:0007703 ORPHA:1871 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002059 ORPHA:404454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002487 ORPHA:404454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0007141 ORPHA:404454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000633 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001249 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001263 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001272 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001344 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001508 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001518 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002123 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002187 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002353 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002376 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002465 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002540 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002659 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002870 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002910 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003563 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003785 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012153 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012447 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012450 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0025455 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0025457 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0025458 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0040209 ORPHA:404454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000297 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000559 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000657 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001265 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001332 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001336 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001374 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001382 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001385 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001413 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001414 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001744 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001771 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001929 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002072 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002119 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002121 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002171 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002205 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002240 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002305 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002345 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002421 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002650 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002673 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002750 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002909 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003086 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003121 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003447 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0003834 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0004349 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0005484 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0005543 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0010819 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0010821 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0011167 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0011900 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0011954 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0008151 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012340 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012448 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0012469 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0020037 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0025336 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0025401 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0030194 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0030906 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0031008 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0031051 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0031146 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0031162 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0100899 ORPHA:404454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000543 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000548 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000577 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000580 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0000648 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0001488 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0011496 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0030001 ORPHA:404454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1879 Melorheostosis with osteopoikilosis HP:0000822 ORPHA:1879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1879 Melorheostosis with osteopoikilosis HP:0000951 ORPHA:1879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1879 Melorheostosis with osteopoikilosis HP:0001012 ORPHA:1879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1879 Melorheostosis with osteopoikilosis HP:0001482 ORPHA:1879 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1879 Melorheostosis with osteopoikilosis HP:0003103 ORPHA:1879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1879 Melorheostosis with osteopoikilosis HP:0010001 ORPHA:1879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1879 Melorheostosis with osteopoikilosis HP:0010739 ORPHA:1879 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0000098 ORPHA:1878 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0000298 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0001288 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0002515 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0003198 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0003236 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0003457 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0003557 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1878 TRIM32-related limb-girdle muscular dystrophy R8 HP:0008994 ORPHA:1878 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0001633 ORPHA:1876 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0002024 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0002578 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0003198 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0003202 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0003270 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0004326 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0004389 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0011024 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0000508 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0000544 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0004295 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1876 Oculogastrointestinal muscular dystrophy HP:0005203 ORPHA:1876 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000135 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000137 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000298 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000486 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000508 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000518 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0001252 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0001288 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0002808 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0002967 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0003741 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0005692 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0006610 ORPHA:1875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0008734 ORPHA:1875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0000028 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0000608 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0000750 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0001159 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0001260 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0001270 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0001285 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0001332 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0002120 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0002200 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0002307 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0002342 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0003396 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0007030 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0008780 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0011506 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0012469 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0031936 ORPHA:404451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0001738 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0001824 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002027 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002570 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0003270 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0004905 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0011892 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0012378 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0100512 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0100513 ORPHA:309031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0000939 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0001097 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0001510 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0001891 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002014 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002748 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002749 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0012047 ORPHA:309031 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0000707 ORPHA:309031 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0000969 ORPHA:309031 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309031 Pancreatic triacylglycerol lipase deficiency HP:0002583 ORPHA:309031 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0000405 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0000457 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0000774 ORPHA:1861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0000944 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001249 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001250 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001251 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001252 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001263 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0001334 ORPHA:1861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0002878 ORPHA:1861 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0004322 ORPHA:1861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome HP:0009826 ORPHA:1861 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000077 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000238 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000256 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000260 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000365 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000520 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000774 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000926 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000944 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000946 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0000956 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001156 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001171 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001250 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001252 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001387 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001561 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001582 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001631 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0001643 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002007 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002093 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002119 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002187 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002282 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002652 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002676 ORPHA:1860 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002808 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002980 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0002983 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0003097 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0003185 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0005280 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0006487 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0006703 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0007392 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0008909 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0010880 ORPHA:1860 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0012368 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1860 Thanatophoric dysplasia type 1 HP:0100781 ORPHA:1860 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000252 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000953 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001063 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001182 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001256 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001596 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0002090 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0004322 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0005590 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0007957 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0008066 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0008404 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0009381 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0011361 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000028 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000262 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000518 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001510 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0001627 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0003241 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0008734 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0030148 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0500262 ORPHA:1867 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000470 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000774 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001376 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001762 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002879 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002979 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002983 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0003026 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0003510 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0005268 ORPHA:1865 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0009826 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0012368 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0040064 ORPHA:1865 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000028 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000119 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000160 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000175 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000238 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000252 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000347 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000358 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000369 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000431 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000519 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000520 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000773 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000946 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001007 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001059 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001195 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001371 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001627 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0001789 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002084 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002089 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0002093 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0003173 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0003175 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0005622 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0032548 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0100759 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1852 X-linked retinal dysplasia HP:0000486 ORPHA:1852 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1852 X-linked retinal dysplasia HP:0000505 ORPHA:1852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1852 X-linked retinal dysplasia HP:0000639 ORPHA:1852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1852 X-linked retinal dysplasia HP:0007703 ORPHA:1852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1852 X-linked retinal dysplasia HP:0007973 ORPHA:1852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1852 X-linked retinal dysplasia HP:0008046 ORPHA:1852 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001970 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0007813 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0025466 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0032589 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0032590 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0032637 ORPHA:91500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001085 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001824 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001945 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0002907 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0003259 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012122 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012123 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012213 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012378 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012595 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0025337 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0100586 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0200026 ORPHA:91500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0000505 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0000518 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0000613 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0000988 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001895 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001897 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0001994 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0002027 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0002039 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0002829 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0003237 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0003326 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0003355 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0003565 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0004918 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0007902 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0007906 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0008682 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0010702 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0011227 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0011484 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0011505 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0011506 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012121 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0012124 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0025188 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0030157 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0031616 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0031851 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0040049 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0100532 ORPHA:91500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0007703 ORPHA:91500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0007777 ORPHA:91500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome HP:0011525 ORPHA:91500 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0000164 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0000303 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0000689 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0001156 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0001249 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0001250 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0001385 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0002353 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0002650 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0002652 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0002808 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0002866 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0003212 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0004322 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome HP:0009882 ORPHA:1858 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000175 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000365 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000545 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0001384 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0003022 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0003071 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0003498 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0005106 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0005863 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0008788 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0010582 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0045060 ORPHA:1856 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000518 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000541 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0000926 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0001377 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0001385 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0001883 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0003300 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0003365 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0008812 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0010055 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome HP:0010743 ORPHA:1856 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000926 ORPHA:1855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0003493 ORPHA:1855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0100255 ORPHA:1855 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0001257 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002960 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0004322 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0012622 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0020151 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0410263 ORPHA:1855 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000093 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000684 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000689 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000707 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000790 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000822 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000946 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0001249 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0001263 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0001270 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0001369 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0001890 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0001973 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002072 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002119 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002315 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002514 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002518 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002633 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002719 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002725 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002979 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0003326 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0003521 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0005681 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0009826 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0009882 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0012115 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0012514 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0030038 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0030047 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0030880 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0032252 ORPHA:1855 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000768 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000821 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000824 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0000988 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0001045 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0001250 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0001876 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002090 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0002808 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1855 Spondyloenchondrodysplasia HP:0011800 ORPHA:1855 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0012286 ORPHA:54595 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0002514 ORPHA:54595 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0010576 ORPHA:54595 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0011750 ORPHA:54595 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0012505 ORPHA:54595 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0040075 ORPHA:54595 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0000135 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0000863 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0000870 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0001085 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0001262 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0001513 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0002017 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0002315 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0002360 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0000044 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0007924 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0007987 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0008245 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0011734 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0030521 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0030588 ORPHA:54595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0000238 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0000365 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0000648 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0000823 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0001510 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0002516 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0002591 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0002637 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0002659 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0003508 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0005978 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0010535 ORPHA:54595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0000708 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0001117 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0001249 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0001250 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0001259 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0001263 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0001658 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0002321 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0002719 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0008897 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0010939 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54595 Craniopharyngioma HP:0430000 ORPHA:54595 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000252 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0001249 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0001257 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0001270 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0001999 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002465 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0008936 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000478 ORPHA:404473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000708 ORPHA:404473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002376 ORPHA:404473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0011451 ORPHA:404473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000219 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000319 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000343 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000430 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000455 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000486 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000540 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000545 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000718 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000729 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002079 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002119 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002144 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002188 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0002360 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0003396 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0009765 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0025160 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0100716 ORPHA:404473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000365 ORPHA:404473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0001250 ORPHA:404473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0000044 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0000252 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0000668 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0000670 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0000771 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0000823 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0000824 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0000953 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0001249 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0001596 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0002333 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0002750 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0002751 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0002828 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0004322 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0006480 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0007373 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0007481 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0009487 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0010627 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0011735 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0030353 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0031074 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0040171 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0100578 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0003700 ORPHA:157954 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0008202 ORPHA:157954 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157954 ANE syndrome HP:0008245 ORPHA:157954 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000009 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001510 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002242 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002728 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002750 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002788 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0004322 ORPHA:391487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000818 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000823 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000832 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000938 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000964 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001433 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001888 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001890 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001920 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002014 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002110 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002719 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002721 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002958 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0004387 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0004944 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0005353 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0010976 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0011123 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0011473 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0012163 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0040160 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0100646 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0100651 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0100817 ORPHA:391487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001635 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001655 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001873 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001904 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0001973 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002092 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002383 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0002724 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0003613 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0004966 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0011459 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0012115 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0012182 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0030355 ORPHA:391487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0005403 ORPHA:391487 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0001970 ORPHA:449395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0003237 ORPHA:449395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0032300 ORPHA:449395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0000083 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0000093 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0000790 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0001919 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0002923 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0003259 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0003493 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0004431 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0005421 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0012622 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0032298 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0032616 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0045042 ORPHA:449395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0000024 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0000105 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0000620 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0001082 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0001287 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0001410 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0001679 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0001701 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0001733 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0001824 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0001880 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0002027 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0002088 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0002102 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0002716 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0002840 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0003212 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0005200 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0006000 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0006515 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0011109 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0011123 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0011747 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0012089 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0012378 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0012578 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0012592 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0012593 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0025633 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0030991 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0031032 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0031093 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0031281 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0031549 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0045026 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0100016 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0100577 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0100646 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0500006 ORPHA:449395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0000126 ORPHA:449395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0010741 ORPHA:449395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0011227 ORPHA:449395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449395 IgG4-related kidney disease HP:0100586 ORPHA:449395 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000008 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000014 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000119 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000212 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000221 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000518 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000613 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000639 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000790 ORPHA:1839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0000962 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0001131 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0001596 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0002205 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0002206 ORPHA:1839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0002213 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0002575 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0008070 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1839 Hereditary mucoepithelial dysplasia HP:0012732 ORPHA:1839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217266 BNAR syndrome HP:0011803 ORPHA:217266 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:217266 BNAR syndrome HP:0000200 ORPHA:217266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217266 BNAR syndrome HP:0001545 ORPHA:217266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217266 BNAR syndrome HP:0002025 ORPHA:217266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217266 BNAR syndrome HP:0010322 ORPHA:217266 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217266 BNAR syndrome HP:0000104 ORPHA:217266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217266 BNAR syndrome HP:0012252 ORPHA:217266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0000008 ORPHA:1848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0000104 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0000175 ORPHA:1848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0000286 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0000316 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0000369 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0000457 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0001562 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0001563 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0001958 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0002089 ORPHA:1848 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0002242 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0030680 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0002575 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0005107 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0010497 ORPHA:1848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0100335 ORPHA:1848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1848 Renal agenesis, bilateral HP:0100589 ORPHA:1848 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140286 Secondary hypoparathyroidism due to impaired parathormon secretion HP:0000828 ORPHA:140286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140286 Secondary hypoparathyroidism due to impaired parathormon secretion HP:0000867 ORPHA:140286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140286 Secondary hypoparathyroidism due to impaired parathormon secretion HP:0004363 ORPHA:140286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0000707 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002721 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002921 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0004302 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0007305 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0031392 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0100706 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0100707 ORPHA:217260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0000505 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001260 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001268 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002066 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002167 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002315 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0003474 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0003690 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0004374 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0005415 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0010549 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0100543 ORPHA:217260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0000639 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0000751 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001123 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001250 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001300 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002321 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0002381 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0004377 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0012246 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0025479 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0030516 ORPHA:217260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0000651 ORPHA:217260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001287 ORPHA:217260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0001310 ORPHA:217260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217260 Progressive multifocal leukoencephalopathy HP:0003401 ORPHA:217260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000348 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000364 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000457 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000463 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000470 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000773 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000774 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0000940 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001155 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001172 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001252 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001373 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001508 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001591 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001631 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001639 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001643 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001824 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001883 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0001903 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002007 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002014 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002017 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002093 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002205 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002240 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0030680 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002652 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002823 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0002983 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0005692 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0005930 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0005989 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0008890 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0008905 ORPHA:1842 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0009811 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0012368 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0100255 ORPHA:1842 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1842 Bone dysplasia, lethal Holmgren type HP:0100790 ORPHA:1842 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0000822 ORPHA:231580 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0003351 ORPHA:231580 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0011740 ORPHA:231580 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0002900 ORPHA:231580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0003081 ORPHA:231580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0008221 ORPHA:231580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0200114 ORPHA:231580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0000360 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0000421 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0001324 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0001959 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0001962 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0002018 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0002315 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231580 Primary unilateral adrenal hyperplasia HP:0003394 ORPHA:231580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0000020 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0000708 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0001250 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0001257 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0001332 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0001371 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0002071 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0002072 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0002120 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0002136 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0002167 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0002300 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0002340 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0002361 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0002457 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0002607 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0005327 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0007076 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0007240 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0007256 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0007308 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157946 Huntington disease-like 3 HP:0100543 ORPHA:157946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001406 ORPHA:69663 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0011848 ORPHA:69663 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001081 ORPHA:69663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0002910 ORPHA:69663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0025502 ORPHA:69663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0030948 ORPHA:69663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0000822 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001082 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001402 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001513 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0001733 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0002896 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0003124 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0005230 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0030151 ORPHA:69663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0000819 ORPHA:69663 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0002613 ORPHA:69663 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0030991 ORPHA:69663 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69663 Low phospholipid-associated cholelithiasis HP:0100523 ORPHA:69663 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002072 ORPHA:157941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000708 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000716 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000726 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000746 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0001260 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0001288 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002066 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002119 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0004305 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0100543 ORPHA:157941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000298 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000496 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000514 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000570 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000617 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000639 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000711 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0000750 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0001250 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0001272 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0001290 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0001310 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0001350 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0001824 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002067 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002120 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002134 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002171 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002311 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002312 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002353 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002354 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002359 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002375 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002457 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0002533 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0003043 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0006801 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0006961 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0007010 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0008003 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0011446 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157941 Huntington disease-like 1 HP:0040201 ORPHA:157941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000648 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000750 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001263 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001508 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002194 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0010862 ORPHA:543470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000505 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001251 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001252 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001257 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002376 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002465 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0012087 ORPHA:543470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000062 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000252 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000518 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000603 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000618 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000639 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001250 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001272 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001273 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001276 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001320 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0001622 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002066 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002079 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002134 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002353 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0002506 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0007333 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0008665 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0008936 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0012430 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0012448 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0012697 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0012794 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0100022 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0000989 ORPHA:69665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0012202 ORPHA:69665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0002910 ORPHA:69665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0025031 ORPHA:69665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0100785 ORPHA:69665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0000716 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0002643 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0002904 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0003155 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0012420 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0012689 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0030782 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0030900 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0031248 ORPHA:69665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0000821 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0000952 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001082 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001337 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001518 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001541 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001622 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0001732 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0002027 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0012164 ORPHA:69665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0000988 ORPHA:69665 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:69665 Intrahepatic cholestasis of pregnancy HP:0002960 ORPHA:69665 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000093 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000097 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000112 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001511 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003368 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0004322 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0031409 ORPHA:1830 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000455 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000691 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000707 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000822 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000926 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001003 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001034 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001250 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001263 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001297 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001510 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001622 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001875 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001888 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001903 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001999 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002315 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002621 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002637 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002655 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002719 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002926 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002938 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003077 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003182 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003270 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003300 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003521 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0005352 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0005435 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0008784 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0008839 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0012593 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0410373 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0410377 ORPHA:1830 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000470 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0000668 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001260 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001269 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001324 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001508 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001518 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001635 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001873 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002092 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002133 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002140 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002301 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002326 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002381 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002907 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0003774 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0004931 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0005280 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0006344 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0006813 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0007957 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0012579 ORPHA:1830 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001298 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0001733 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002242 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002376 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0002960 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0005523 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0005528 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1830 Schimke immuno-osseous dysplasia HP:0012539 ORPHA:1830 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0000708 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0000736 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0001250 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0001289 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002354 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0012229 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0032264 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0032266 ORPHA:217253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0000738 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0000739 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0000746 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0001945 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002013 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002014 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002315 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0004305 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0011289 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0012226 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0012332 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0100660 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0100754 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0100785 ORPHA:217253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0000709 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0000713 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0000716 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0000733 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0001266 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0001278 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0001332 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0001336 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002063 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002072 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002133 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002179 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002197 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002300 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002310 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002371 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0002463 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0003781 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0007359 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0008763 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0010553 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0012173 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0012333 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0030214 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0031258 ORPHA:217253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0003006 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0012189 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0100013 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0100521 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0100526 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217253 NMDA receptor encephalitis HP:0100616 ORPHA:217253 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000218 ORPHA:168624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000243 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000256 ORPHA:168624 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000268 ORPHA:168624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000303 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000316 ORPHA:168624 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000348 ORPHA:168624 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0000582 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0001256 ORPHA:168624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0001770 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0002119 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0010059 ORPHA:168624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0010807 ORPHA:168624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type HP:0011800 ORPHA:168624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0000164 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0000457 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0000691 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0000787 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0000944 ORPHA:1837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0005916 ORPHA:1837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0001608 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0002750 ORPHA:1837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0002991 ORPHA:1837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0040071 ORPHA:1837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0003272 ORPHA:1837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0003312 ORPHA:1837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0004322 ORPHA:1837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0006482 ORPHA:1837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1837 Ulna metaphyseal dysplasia syndrome HP:0006501 ORPHA:1837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0002750 ORPHA:168621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0008829 ORPHA:168621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0008835 ORPHA:168621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0001974 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0002515 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0003565 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0008800 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0012514 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0031955 ORPHA:168621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0001374 ORPHA:168621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0001945 ORPHA:168621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0008812 ORPHA:168621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168621 Dysplasia of head of femur, Meyer type HP:0030812 ORPHA:168621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0000772 ORPHA:1836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0001883 ORPHA:1836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0002967 ORPHA:1836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0002991 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0003027 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0003028 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0003063 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0003422 ORPHA:1836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0004209 ORPHA:1836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0004322 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0005009 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0005048 ORPHA:1836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0008368 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0009465 ORPHA:1836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1836 Mesomelic dysplasia, Kantaputra type HP:0100490 ORPHA:1836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0000750 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0001260 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0001265 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0002066 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0002070 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0002194 ORPHA:404499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0001152 ORPHA:404499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0001249 ORPHA:404499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0001250 ORPHA:404499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0000639 ORPHA:404499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0002172 ORPHA:404499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000008 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000069 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000078 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000079 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000107 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000126 ORPHA:1834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000212 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000238 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000316 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000324 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000347 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000384 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000470 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000707 ORPHA:1834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000772 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000776 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000921 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0000924 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001140 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001392 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001539 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001562 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001622 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0001743 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002019 ORPHA:1834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002020 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002023 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002120 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002242 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002575 ORPHA:1834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002644 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002650 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0002815 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0003312 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0003422 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0004322 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0006703 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0008551 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0008678 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0012718 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0012732 ORPHA:1834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1834 Axial mesodermal dysplasia spectrum HP:0100542 ORPHA:1834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0007020 ORPHA:466722 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002061 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0010549 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002395 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0012407 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0003487 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0007210 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002505 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0003800 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001263 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000278 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000675 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000486 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000508 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0008936 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002080 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001260 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002421 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001250 ORPHA:466722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001344 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0005216 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002068 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002882 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002751 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0008872 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000020 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002067 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001332 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0008110 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001385 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0001336 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0008689 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0000011 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0025488 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002376 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0100785 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466722 Autosomal recessive spastic paraplegia type 77 HP:0002268 ORPHA:466722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001249 ORPHA:404493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001250 ORPHA:404493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001999 ORPHA:404493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001251 ORPHA:404493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0000248 ORPHA:404493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001290 ORPHA:404493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000239 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000252 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000270 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000278 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000347 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000358 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000369 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000457 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000463 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000470 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0008501 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000169 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000212 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000520 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0001511 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0002094 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0002098 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0002878 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0003196 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0009939 ORPHA:1832 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0000366 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0000499 ORPHA:1818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0000668 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0000995 ORPHA:1818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0008070 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0002231 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0006482 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0006709 ORPHA:1818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0007521 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0008388 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0100578 ORPHA:1818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type HP:0100840 ORPHA:1818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0000774 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001252 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001263 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001288 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001371 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001376 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001522 ORPHA:157973 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001558 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001635 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0001883 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0002093 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0002421 ORPHA:157973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003198 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003202 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003306 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003307 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003327 ORPHA:157973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0003457 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0004326 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0005692 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0011675 ORPHA:157973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation HP:0011968 ORPHA:157973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000239 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000248 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000316 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000455 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000456 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000506 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0001249 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0001263 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0001274 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0001762 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0001841 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0002056 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0002084 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0002435 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0006866 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0008388 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0009099 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0009928 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0011803 ORPHA:1827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000161 ORPHA:1827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0002119 ORPHA:1827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0002190 ORPHA:1827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0040326 ORPHA:1827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000028 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000154 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000508 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000545 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0001250 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0002690 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0002781 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0003065 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0005772 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0006951 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0010627 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0040075 ORPHA:1827 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0000501 ORPHA:1827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1827 Acromelic frontonasal dysplasia HP:0025247 ORPHA:1827 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000316 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000336 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000347 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000365 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000431 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000494 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0001999 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0002650 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0002652 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0009473 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0009803 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0011304 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0100807 ORPHA:1826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000126 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000280 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000293 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000405 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000407 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000941 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0001220 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0001239 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0001607 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0001627 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0002694 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0002949 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0002987 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0002996 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0003016 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0003083 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0006000 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0006070 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0006248 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0008081 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0008661 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0009487 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0009650 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0009882 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0010049 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0010501 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0010505 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0010562 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0010743 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0100490 ORPHA:1826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000175 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000193 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000410 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000481 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000483 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000646 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000677 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000912 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0000954 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0001249 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0001363 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0001510 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0001761 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0002308 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0003298 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0006006 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0006383 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0008952 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1826 Frontometaphyseal dysplasia HP:0009004 ORPHA:1826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000154 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000286 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000316 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000324 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000343 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000407 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000431 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000463 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000508 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000708 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000823 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0001053 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0001172 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0001249 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0001250 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0002002 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0002650 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0002750 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0003019 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0004322 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0005280 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0006101 ORPHA:1825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0007477 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0009623 ORPHA:1825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0100542 ORPHA:1825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0000252 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0000483 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0000505 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0000639 ORPHA:1824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0000926 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0001156 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0001249 ORPHA:1824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0001387 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0002656 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0002750 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0002812 ORPHA:1824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0002829 ORPHA:1824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0002999 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0003042 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0003083 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0004322 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0005930 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0007370 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0007703 ORPHA:1824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0010582 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1824 Lowry-Wood syndrome HP:0100643 ORPHA:1824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0001387 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0001763 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002653 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002757 ORPHA:1822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002758 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002823 ORPHA:1822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002857 ORPHA:1822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0002970 ORPHA:1822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0003367 ORPHA:1822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0005616 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0005930 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0008368 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0008812 ORPHA:1822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0010582 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0100555 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1822 Dysplasia epiphysealis hemimelica HP:0100777 ORPHA:1822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53296 Familial cutaneous collagenoma HP:0001000 ORPHA:53296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53296 Familial cutaneous collagenoma HP:0001631 ORPHA:53296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53296 Familial cutaneous collagenoma HP:0001635 ORPHA:53296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53296 Familial cutaneous collagenoma HP:0001638 ORPHA:53296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53296 Familial cutaneous collagenoma HP:0001681 ORPHA:53296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53296 Familial cutaneous collagenoma HP:0200034 ORPHA:53296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53296 Familial cutaneous collagenoma HP:0200036 ORPHA:53296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000078 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000278 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000365 ORPHA:1809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000411 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000561 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0000858 ORPHA:1809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0001231 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0001249 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002164 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002209 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002223 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002231 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002552 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0002558 ORPHA:1809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0007477 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0007502 ORPHA:1809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0007565 ORPHA:1809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type HP:0008388 ORPHA:1809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000175 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000286 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000316 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000327 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000349 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000368 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000384 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000486 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000508 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000518 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000568 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000612 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0001156 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0002084 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0002650 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0002738 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0002938 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0004112 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0004423 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0006931 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0007370 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0008591 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0010297 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0011817 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0025247 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0040019 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0100490 ORPHA:391474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0000873 ORPHA:391474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391474 Frontorhiny HP:0040075 ORPHA:391474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0000653 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0001595 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0001597 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0002209 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0002215 ORPHA:1808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0002223 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0002225 ORPHA:1808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0008401 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0008404 ORPHA:1808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0011675 ORPHA:1808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000494 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000520 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000592 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000926 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000938 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000944 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000963 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000974 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000978 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0001182 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0001371 ORPHA:157965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0001508 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0002652 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0003071 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0003370 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0003393 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0006429 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0008848 ORPHA:157965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0010489 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0100864 ORPHA:157965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0000286 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0000322 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0000431 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0000457 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0000486 ORPHA:1807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0000494 ORPHA:1807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0000632 ORPHA:1807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0001053 ORPHA:1807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0001582 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0002023 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0002553 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0002714 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0005338 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0007495 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0007565 ORPHA:1807 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0007776 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0008065 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0008070 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0009743 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0010720 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0010751 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0010935 ORPHA:1807 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1807 Focal facial dermal dysplasia type III HP:0100781 ORPHA:1807 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000164 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000365 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000411 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000446 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000478 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000482 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000504 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000518 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000568 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000618 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000647 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000962 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0000966 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001000 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0008070 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001097 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001131 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001231 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001249 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0001999 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0002167 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0002205 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0002213 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0004322 ORPHA:1806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1806 Ectodermal dysplasia-blindness syndrome HP:0200042 ORPHA:1806 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0000093 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0000486 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0000602 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0000726 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0000790 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0000823 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001251 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001288 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001298 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001510 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001637 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001654 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001698 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001744 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001789 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001873 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001876 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0001903 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0002092 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0002123 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0002205 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0002240 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0002653 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0002659 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0002750 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0002797 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0004380 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0004382 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0006530 ORPHA:77261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0010702 ORPHA:77261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0010885 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0011001 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77261 Gaucher disease type 3 HP:0012378 ORPHA:77261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0000486 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0000602 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0001257 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0001298 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0001332 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0001371 ORPHA:77260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0001695 ORPHA:77260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0001744 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0002015 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0002098 ORPHA:77260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0002123 ORPHA:77260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0002205 ORPHA:77260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0002240 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0002793 ORPHA:77260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77260 Gaucher disease type 2 HP:0012735 ORPHA:77260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65282 Carvajal syndrome HP:0001635 ORPHA:65282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65282 Carvajal syndrome HP:0001644 ORPHA:65282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65282 Carvajal syndrome HP:0002224 ORPHA:65282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65282 Carvajal syndrome HP:0005588 ORPHA:65282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0000987 ORPHA:231568 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0008066 ORPHA:231568 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001030 ORPHA:231568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001056 ORPHA:231568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001810 ORPHA:231568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0008404 ORPHA:231568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0031045 ORPHA:231568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001075 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001802 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0001817 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0008390 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0008391 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0031446 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0200041 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0200097 ORPHA:231568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0000158 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0000238 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0000256 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0001161 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0001250 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0001251 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0002017 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0002126 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0002315 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0002516 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0006824 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0012081 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0200034 ORPHA:65285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0010619 ORPHA:65285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0012844 ORPHA:65285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0100031 ORPHA:65285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0100615 ORPHA:65285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65285 Lhermitte-Duclos disease HP:0200016 ORPHA:65285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000047 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000085 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000164 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000202 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000218 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000232 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000252 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000256 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000275 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000276 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000322 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000324 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000369 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000400 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000426 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000494 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000518 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000568 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000678 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000709 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000716 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000717 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000718 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000739 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000750 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000767 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0000768 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0001000 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0001182 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0001249 ORPHA:65286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0001263 ORPHA:65286 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0001288 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0001508 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0001611 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0001643 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0001682 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0002020 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0002092 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0003196 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0004209 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0005692 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0007018 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0007302 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65286 3q29 microdeletion syndrome HP:0008416 ORPHA:65286 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000325 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000331 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000369 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000609 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000857 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0001321 ORPHA:65288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0100800 ORPHA:65288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0001873 ORPHA:91547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0001945 ORPHA:91547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0003573 ORPHA:91547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0011227 ORPHA:91547 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0000952 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0001903 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0001974 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0002315 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0002910 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0003326 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0025435 ORPHA:91547 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0000079 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0001649 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0001882 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0001892 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0001919 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0002013 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0002027 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0002615 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0002829 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0003259 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0012378 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0012735 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0025143 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0031179 ORPHA:91547 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0000421 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0000790 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0002014 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0002105 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0008151 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0011897 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91547 Relapsing fever HP:0011899 ORPHA:91547 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0000554 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0000613 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0000708 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0001287 ORPHA:91546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0001324 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0001369 ORPHA:91546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0001386 ORPHA:91546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0001678 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0001945 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0002017 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0002315 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0002354 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0002383 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0002829 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0003326 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0003401 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0004334 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0006824 ORPHA:91546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0009830 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0011675 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0012378 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0100576 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0100785 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91546 Lyme disease HP:0200036 ORPHA:91546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000047 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000144 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000457 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000534 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000668 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000684 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000787 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000823 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000982 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0001249 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0002230 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0004322 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0007400 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0007513 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0008736 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0009721 ORPHA:1816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000023 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000028 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000175 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000238 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000256 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000278 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000286 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000316 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000369 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000490 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000492 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000494 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000682 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000691 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000767 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000821 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000958 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000963 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000966 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0001252 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0001274 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0001288 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0001561 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0001852 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0002007 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0002119 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0002213 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0002558 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0002991 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0003196 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0005280 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0007360 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0008736 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0008872 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0010624 ORPHA:1812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0010669 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0010864 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0010978 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0100840 ORPHA:1812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1811 Odontomicronychial dysplasia HP:0000164 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1811 Odontomicronychial dysplasia HP:0001597 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1811 Odontomicronychial dysplasia HP:0001799 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1811 Odontomicronychial dysplasia HP:0001816 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1811 Odontomicronychial dysplasia HP:0006323 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1811 Odontomicronychial dysplasia HP:0006337 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1811 Odontomicronychial dysplasia HP:0008383 ORPHA:1811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0000093 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0000225 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0000790 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0000823 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0000938 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0000978 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001394 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001510 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001541 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001637 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001698 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001744 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001873 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001876 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001882 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001903 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0001971 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002027 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002039 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002092 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002240 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002653 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002750 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002756 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002758 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002797 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002808 ORPHA:77259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0002953 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0005230 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0006530 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0010702 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0010741 ORPHA:77259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0010885 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77259 Gaucher disease type 1 HP:0011001 ORPHA:77259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000164 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000668 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000963 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000966 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0008070 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0002231 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0006323 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0006482 ORPHA:1810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0001231 ORPHA:1810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000457 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000964 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0001000 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0002047 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0011220 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia HP:0012471 ORPHA:1810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000164 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000218 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000325 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000343 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000347 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000400 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000411 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000414 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0045075 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000653 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0000768 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0001252 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0001808 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0001820 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0002007 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0002650 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0003307 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0004209 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0004322 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0005743 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0008070 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0009882 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0010049 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0010579 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0010743 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0011069 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0011341 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0011910 ORPHA:77258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3 HP:0100490 ORPHA:77258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000028 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000175 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000189 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000248 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000270 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000286 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000294 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000316 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000324 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000327 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000365 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000369 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000405 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000426 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000486 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000601 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000929 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0001357 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0001363 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0001822 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0002516 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0030680 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0003312 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0004209 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0004322 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0008551 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0010535 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0010807 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0011386 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0000348 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] 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ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0002342 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0002650 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0003307 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0005037 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0005280 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0006101 ORPHA:794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0007598 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0008572 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0009738 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0009899 ORPHA:794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0010720 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:794 Saethre-Chotzen syndrome HP:0011304 ORPHA:794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0000822 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0001369 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0002015 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0002960 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0003119 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0003236 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0003493 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0003701 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0008997 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0011838 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0025131 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0025142 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0030880 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0032169 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0100296 ORPHA:206572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0000077 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0000819 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0001627 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0001873 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0001882 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0002092 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0002273 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0002355 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0002725 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0002910 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0003549 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0003551 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0004269 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0006530 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0009053 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0009763 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0011121 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0100324 ORPHA:206572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206572 Overlap myositis HP:0001370 ORPHA:206572 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0000765 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0000925 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0000969 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0000988 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0001061 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0001369 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0001581 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002024 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002027 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002028 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002037 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002570 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002653 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002754 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002757 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002797 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002829 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0003765 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0004936 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0005464 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0006824 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0010622 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0100686 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0100769 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0100781 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0100847 ORPHA:793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0200039 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0002633 ORPHA:793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0100749 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:793 SAPHO syndrome HP:0100774 ORPHA:793 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001763 ORPHA:284984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002617 ORPHA:284984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0011645 ORPHA:284984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000023 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000139 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000193 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000218 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000272 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000276 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000316 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000348 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000689 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000978 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000987 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001065 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001166 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001537 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001653 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001659 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002076 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002315 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002647 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002650 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0002758 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0003179 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0004268 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0004944 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0005086 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0005116 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0005294 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0012432 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0025487 ORPHA:284984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000278 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000767 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000768 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001388 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001519 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001627 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001642 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001712 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0003302 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0005112 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0005110 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0008419 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0010886 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0100490 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0100775 ORPHA:284984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000175 ORPHA:284984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0000939 ORPHA:284984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001643 ORPHA:284984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284984 Aneurysm-osteoarthritis syndrome HP:0001363 ORPHA:284984 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0000256 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0000293 ORPHA:796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0000365 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0000618 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0001250 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0001251 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0001324 ORPHA:796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0001508 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0001635 ORPHA:796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0001744 ORPHA:796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0002205 ORPHA:796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0002240 ORPHA:796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0002333 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0002652 ORPHA:796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0002808 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0004343 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0007272 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0010729 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:796 Sandhoff disease HP:0100022 ORPHA:796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0003741 ORPHA:324604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0000218 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0001290 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0001508 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0001620 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0002091 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0002194 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0002421 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0002650 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0002828 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0002877 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0003306 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0003327 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0003700 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0004322 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0004889 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0005991 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0009058 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0030319 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0100295 ORPHA:324604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0000303 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0000308 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0001385 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0001634 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0001635 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0001667 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0001708 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0001763 ORPHA:324604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324604 Classic multiminicore myopathy HP:0030091 ORPHA:324604 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0009919 ORPHA:790 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0000486 ORPHA:790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0000501 ORPHA:790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0000520 ORPHA:790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0000555 ORPHA:790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0031615 ORPHA:790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0000554 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0001100 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0001909 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0002665 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0002669 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0002859 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0002861 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0007663 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0007703 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0007862 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0007902 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0011886 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0012372 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0025244 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0025337 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0100243 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0100658 ORPHA:790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0000175 ORPHA:790 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0009733 ORPHA:790 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0012254 ORPHA:790 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:790 Retinoblastoma HP:0030408 ORPHA:790 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:792 X-linked retinoschisis HP:0000478 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:792 X-linked retinoschisis HP:0000496 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:792 X-linked retinoschisis HP:0000501 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:792 X-linked retinoschisis HP:0000504 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:792 X-linked retinoschisis HP:0000512 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:792 X-linked retinoschisis HP:0000518 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:792 X-linked retinoschisis HP:0030502 ORPHA:792 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000035 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000135 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000405 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000407 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000431 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000463 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000501 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000505 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000512 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000518 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000563 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000602 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000613 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000618 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000639 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000648 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000842 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0000987 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0001249 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0001347 ORPHA:791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0001513 ORPHA:791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0005978 ORPHA:791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0007675 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0007703 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0008046 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:791 Retinitis pigmentosa HP:0008736 ORPHA:791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157997 Benign cephalic histiocytosis HP:0000988 ORPHA:157997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157997 Benign cephalic histiocytosis HP:0100727 ORPHA:157997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157997 Benign cephalic histiocytosis HP:0200034 ORPHA:157997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157997 Benign cephalic histiocytosis HP:0011123 ORPHA:157997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0025475 ORPHA:157991 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0030350 ORPHA:157991 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0100727 ORPHA:157991 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0040186 ORPHA:157991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0000989 ORPHA:157991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0031901 ORPHA:157991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0032061 ORPHA:157991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0040126 ORPHA:157991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0001909 ORPHA:157991 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0005585 ORPHA:157991 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0002716 ORPHA:157991 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:157991 Generalized eruptive histiocytosis HP:0031871 ORPHA:157991 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000028 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000054 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000121 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000175 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000193 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000233 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000252 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000278 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000316 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000358 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000384 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000405 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000463 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000470 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000483 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000486 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000540 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000582 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000592 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000954 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000960 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001100 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001156 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001274 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001290 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001734 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001845 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001864 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0002019 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0002101 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0002162 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0002788 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0002828 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0003196 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0004209 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0004689 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0004704 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0005280 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0005495 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0006801 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0009913 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0010034 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0010864 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0010945 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0011466 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0011918 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0012758 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0030148 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0040018 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0040022 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000126 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000238 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0000633 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001250 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001305 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001636 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0001711 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0003006 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0004794 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0004969 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0005176 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0008609 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0011546 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0011939 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264450 Trisomy 8p HP:0100790 ORPHA:264450 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0001945 ORPHA:319251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0003237 ORPHA:319251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0020071 ORPHA:319251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0002039 ORPHA:319251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0000478 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0000573 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0000575 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0000613 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0001324 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0003496 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0007663 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0025188 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0032118 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0032323 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0200026 ORPHA:319251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0000225 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0000554 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0000738 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0000790 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0000952 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0000988 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0001269 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0001873 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0001892 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0001903 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0001977 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0002248 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0002249 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0002315 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0002321 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0002383 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0002385 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0002910 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0003418 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0003470 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0003781 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0004372 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0005268 ORPHA:319251 TAS HP:0040284 C ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0005542 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0012115 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0012229 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0025013 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0031691 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319251 Rift valley fever HP:0040049 ORPHA:319251 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0000311 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0000470 ORPHA:1803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0000773 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0000774 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0000944 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0001288 ORPHA:1803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0001591 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0002162 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0002644 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0002857 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0002991 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0003042 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0003307 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0005019 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0005692 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0008873 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0009826 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1803 Thoracomelic dysplasia HP:0012368 ORPHA:1803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0000944 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0001744 ORPHA:1802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0001903 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0002167 ORPHA:1802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0002644 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0002823 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0002992 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0003103 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0003312 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0004493 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0005019 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0006487 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1802 Ghosal hematodiaphyseal dysplasia HP:0010978 ORPHA:1802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001653 ORPHA:284979 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0002097 ORPHA:284979 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0005180 ORPHA:284979 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000268 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000485 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000768 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000973 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001083 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001166 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001181 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001270 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001371 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001518 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001634 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001704 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001713 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0002616 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0002643 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001626 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0008124 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0008734 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0010511 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0011003 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0011968 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0012418 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0030148 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0100578 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0100625 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0100693 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0100807 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000347 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000369 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000431 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000490 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000494 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000592 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001252 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001265 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001382 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0002705 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0009901 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0012771 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000268 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000347 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000369 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000431 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000485 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000494 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000592 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000768 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0000973 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001083 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001166 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001181 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001252 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001265 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001270 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001371 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001382 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001518 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0002097 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0002705 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0001626 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0005180 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0004970 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0100807 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0008124 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0008734 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0009901 ORPHA:284979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0010511 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0011003 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0011968 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0030148 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0100578 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0100625 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284979 Neonatal Marfan syndrome HP:0100693 ORPHA:284979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0000347 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0000774 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0000895 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0000907 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0000921 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0000944 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0001176 ORPHA:1801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0001252 ORPHA:1801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0001376 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0001387 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0002983 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0003180 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0003312 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0003498 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0006487 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0010306 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0010561 ORPHA:1801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1801 Kyphomelic dysplasia HP:0012368 ORPHA:1801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0001297 ORPHA:786 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0001007 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0004319 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0003118 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0003154 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0012030 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0012378 ORPHA:786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000822 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000876 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0001061 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0002900 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0008221 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0030087 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0200114 ORPHA:786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000062 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000789 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000798 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0000826 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0003118 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0001943 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0002292 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:786 Generalized glucocorticoid resistance syndrome HP:0010458 ORPHA:786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000137 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000470 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000823 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000837 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000879 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000938 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000939 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001510 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001511 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002750 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002967 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0003492 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0004322 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0006610 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0006709 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008209 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008222 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008897 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0012774 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0040072 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0100625 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008209 ORPHA:99413 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000218 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000278 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000347 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000365 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000369 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000403 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000465 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000474 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000475 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000708 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000739 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000758 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000786 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000822 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001952 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000869 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000872 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000914 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001328 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001397 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001513 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001531 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001800 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002162 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002705 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002808 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002857 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002910 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0005113 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0005689 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0006438 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0006456 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0007477 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0009759 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0010044 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0010047 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0010510 ORPHA:99413 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000085 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000086 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000164 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000286 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000476 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000486 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000508 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000545 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000716 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000767 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000842 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000987 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000995 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001004 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001045 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001231 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001385 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001395 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001596 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001631 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001647 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001657 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001658 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001680 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001763 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001812 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001831 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002608 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002611 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002650 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002960 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0003067 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0003186 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0003764 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0004349 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0005603 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0005978 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0007018 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0003077 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008572 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0009118 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0011307 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0012434 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0100646 ORPHA:99413 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000150 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0000471 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0001394 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002037 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002613 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002647 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0002861 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0004383 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0004386 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0005294 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0008678 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99413 Turner syndrome due to structural X chromosome anomalies HP:0012758 ORPHA:99413 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000028 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000164 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000218 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000252 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000286 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000316 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000347 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000365 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000369 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000431 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000444 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000486 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000494 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000501 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000506 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000508 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000579 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000670 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000737 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000739 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000987 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0001156 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0001249 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0001250 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0001263 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0001385 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0001531 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0001561 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0002019 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0002093 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0002230 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0002553 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0030680 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0004209 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0004322 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0005306 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0005692 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0006101 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0007018 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0008872 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0009832 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0010059 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0010562 ORPHA:783 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0011304 ORPHA:783 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:783 Rubinstein-Taybi syndrome HP:0100760 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000047 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000232 ORPHA:782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000316 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000327 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000365 ORPHA:782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000431 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000501 ORPHA:782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000506 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000593 ORPHA:782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000627 ORPHA:782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000668 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000691 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0000864 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0001510 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0001582 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0002025 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0030680 ORPHA:782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0005280 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0008053 ORPHA:782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0011220 ORPHA:782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:782 Axenfeld-Rieger syndrome HP:0011800 ORPHA:782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0000013 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0000098 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0000786 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0000837 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0000938 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0000939 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0001548 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0002663 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0003117 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0003187 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0003799 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0008187 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0008197 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0008675 ORPHA:785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0001952 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0000842 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0000956 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0001061 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0002574 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0001677 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0010679 ORPHA:785 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0000834 ORPHA:785 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0030087 ORPHA:785 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:785 Estrogen resistance syndrome HP:0100133 ORPHA:785 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:391457 HSD10 disease, neonatal type HP:0001250 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391457 HSD10 disease, neonatal type HP:0001639 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391457 HSD10 disease, neonatal type HP:0001942 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391457 HSD10 disease, neonatal type HP:0003128 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391457 HSD10 disease, neonatal type HP:0012379 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391457 HSD10 disease, neonatal type HP:0001263 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391457 HSD10 disease, neonatal type HP:0500170 ORPHA:391457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391457 HSD10 disease, neonatal type HP:0001392 ORPHA:391457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391457 HSD10 disease, neonatal type HP:0003256 ORPHA:391457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0032252 ORPHA:781 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001324 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001744 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001945 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002315 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002910 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0003326 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0003565 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0012378 ORPHA:781 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0000790 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0000924 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0000979 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001392 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001433 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001626 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001654 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001824 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001873 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001903 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002039 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002090 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002240 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002633 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002721 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002923 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0003262 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0003613 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0010702 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0012115 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0012735 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0020136 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0025015 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0030166 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0030167 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0032101 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0040186 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0100584 ORPHA:781 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001082 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001287 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001698 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0001701 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002098 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002202 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002383 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002716 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0002754 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0005162 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0006530 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0011034 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0012819 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0025343 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:781 Q fever HP:0100778 ORPHA:781 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0025238 ORPHA:566943 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0001387 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0002355 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0005656 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0010505 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0010741 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0010885 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0012098 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0030871 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0100339 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0100662 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0100925 ORPHA:566943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0001369 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0001763 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0005063 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0005086 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0008110 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0008124 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0032153 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0100535 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566943 Mueller-Weiss syndrome HP:0100694 ORPHA:566943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001922 ORPHA:565612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0003756 ORPHA:565612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0009058 ORPHA:565612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0012379 ORPHA:565612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0031331 ORPHA:565612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0000819 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001430 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001435 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001638 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001677 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001681 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001962 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0002094 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0002240 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0003077 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0003236 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0005145 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0009805 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0011675 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0032141 ORPHA:565612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0000407 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001249 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001733 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0003805 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0011123 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0031684 ORPHA:565612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0000478 ORPHA:565612 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0001744 ORPHA:565612 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy HP:0008064 ORPHA:565612 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000819 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000938 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000939 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001010 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001250 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001256 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001385 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001518 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001558 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001999 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0002342 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0002360 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0002578 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0002714 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0002870 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0002871 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0005599 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0007730 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0007874 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0010741 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0010829 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0011787 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0012166 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0012411 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0012412 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000028 ORPHA:398073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001270 ORPHA:398073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001513 ORPHA:398073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0002119 ORPHA:398073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0008872 ORPHA:398073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000044 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000046 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000060 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000064 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000486 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000729 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000786 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000789 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000818 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000823 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000824 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001252 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001263 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001508 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0001773 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0002205 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0002591 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0002650 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0003241 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0004322 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0006889 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0008734 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0010627 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0011734 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0012104 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0012105 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0012650 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0025160 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0030339 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0200055 ORPHA:398073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000219 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000286 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000311 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000431 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000463 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000490 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000708 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000709 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000717 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000736 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0031100 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0031169 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0031507 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0045025 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0100716 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0100739 ORPHA:398073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398073 Prader-Willi-like syndrome HP:0000826 ORPHA:398073 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000028 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000135 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000789 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001270 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001513 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001999 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0008947 ORPHA:398079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000044 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000046 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000060 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000064 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000486 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000708 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000729 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000750 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000786 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001249 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001315 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001319 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001328 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001508 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001612 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001773 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002119 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002591 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002650 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0003241 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0008197 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0008734 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012166 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012287 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012506 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012743 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012758 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0025160 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0040288 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0200055 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0410263 ORPHA:398079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000054 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000217 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000219 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000446 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000709 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000826 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000938 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0000939 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001010 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001250 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001254 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0001385 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002205 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002494 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002714 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0002870 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0005599 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0005978 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0007874 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0010536 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0010829 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0011787 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012411 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0012412 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0025237 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398079 SIM1-related Prader-Willi-like syndrome HP:0040030 ORPHA:398079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000154 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000356 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000708 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000729 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0001263 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0001270 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0002465 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0008947 ORPHA:313947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000164 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000219 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000414 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000448 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000486 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000527 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000601 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000678 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000817 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0001155 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0001488 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0001760 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0002136 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0002360 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0002370 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0002553 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0004209 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0005274 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0010055 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0011800 ORPHA:313947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000294 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000331 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000483 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000505 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000957 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0001852 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0002013 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0002020 ORPHA:313947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:313947 2q23.1 microduplication syndrome HP:0000718 ORPHA:313947 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0030200 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0002015 ORPHA:206569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003202 ORPHA:206569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003326 ORPHA:206569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0008994 ORPHA:206569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0100614 ORPHA:206569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0001962 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0002664 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003327 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003691 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0006530 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0012819 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0100749 ORPHA:206569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0000988 ORPHA:206569 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0001635 ORPHA:206569 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0002829 ORPHA:206569 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0030880 ORPHA:206569 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003198 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003236 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003458 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0003713 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206569 Immune-mediated necrotizing myopathy HP:0030057 ORPHA:206569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0000217 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0000952 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0000988 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0000989 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0001097 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0001369 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0001394 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0001541 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0001945 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0002015 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0002020 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0002093 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0002240 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0002383 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0003326 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0004295 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0007400 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0011354 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0011838 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0012378 ORPHA:779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0100579 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0100585 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0100725 ORPHA:779 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:779 Reynolds syndrome HP:0200042 ORPHA:779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000053 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000164 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000218 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000248 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000256 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000275 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000322 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000327 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000347 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000348 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000369 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000411 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000426 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000678 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000708 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000709 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000738 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0000767 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0001156 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0001166 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0001249 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0001250 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0001252 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0001519 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0001608 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0001611 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0001631 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0002167 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0002650 ORPHA:776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0005692 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0007018 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0007370 ORPHA:776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0100490 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:776 Lujan-Fryns syndrome HP:0100753 ORPHA:776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0000253 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0000733 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0001263 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0001288 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0001344 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0002376 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0002793 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0012171 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0025430 ORPHA:778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0001250 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0001332 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0001508 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0002067 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0002353 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0002355 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0003202 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0030217 ORPHA:778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0000713 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0001082 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0001987 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0002151 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0002360 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0002490 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0002540 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0002650 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0003542 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0008947 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0012332 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0031793 ORPHA:778 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:778 Rett syndrome HP:0011451 ORPHA:778 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0005930 ORPHA:166002 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003365 ORPHA:166002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0009826 ORPHA:166002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0012770 ORPHA:166002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0030839 ORPHA:166002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0030973 ORPHA:166002 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002515 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002758 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002812 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002815 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002857 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0002970 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003028 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003045 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003946 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003999 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0004322 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0006055 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0006190 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0009189 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0010631 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0010665 ORPHA:166002 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0001324 ORPHA:166002 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0003198 ORPHA:166002 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0000762 ORPHA:206594 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001324 ORPHA:206594 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002922 ORPHA:206594 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003431 ORPHA:206594 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007377 ORPHA:206594 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001284 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001288 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001974 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002355 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002359 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003447 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003474 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003551 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003565 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0004302 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0006881 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007078 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007141 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007220 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007262 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0011096 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0012531 ORPHA:206594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001266 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001337 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0001430 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002403 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002460 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002936 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003237 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003376 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0003448 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0006376 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0006844 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0007230 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0008800 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0010505 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0012078 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0032169 ORPHA:206594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002086 ORPHA:206594 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0002270 ORPHA:206594 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy HP:0006824 ORPHA:206594 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0000252 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001263 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001273 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001320 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0002363 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0010663 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0012110 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0012502 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0032398 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0000486 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0000657 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001302 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0002119 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0007018 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0012547 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0031882 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0040327 ORPHA:467166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0000256 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001251 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001252 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0001488 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0002121 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0012469 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0020214 ORPHA:467166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000543 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000750 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000817 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001273 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001317 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001321 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001344 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001662 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002421 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002490 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002500 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002505 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0007321 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0008763 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0008872 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0009062 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0011344 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0012379 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0030890 ORPHA:565624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000028 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000194 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000252 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000762 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001250 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001260 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001324 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001347 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001511 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0001998 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002013 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002058 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002059 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002061 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002079 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002151 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002307 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002353 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002509 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002521 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0002650 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0003394 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0003487 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0004305 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0005745 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0006956 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0007366 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0007371 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0011448 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0011470 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0012428 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0031959 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0030051 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0000256 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0000767 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0000768 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0000774 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0001792 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0001821 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0002650 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0002652 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0002750 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0002812 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0002869 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0002970 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0002983 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0003300 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0003307 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0003367 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0004279 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0004322 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0006059 ORPHA:63446 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0010306 ORPHA:63446 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63446 Acrocapitofemoral dysplasia HP:0010579 ORPHA:63446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0011473 ORPHA:398063 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002028 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0001824 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002024 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0001935 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0000939 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002910 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0000707 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0011123 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0030057 ORPHA:398063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002853 ORPHA:398063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002901 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0003075 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002917 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002148 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0001891 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0001897 ORPHA:398063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0001972 ORPHA:398063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0010639 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0012052 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0025409 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002027 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0004395 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002829 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0033143 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002243 ORPHA:398063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0003073 ORPHA:398063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398063 Refractory celiac disease HP:0002665 ORPHA:398063 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0004220 ORPHA:63442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0005819 ORPHA:63442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0005930 ORPHA:63442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0010034 ORPHA:63442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0000668 ORPHA:63442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0000684 ORPHA:63442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0001385 ORPHA:63442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0004322 ORPHA:63442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0008843 ORPHA:63442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0002750 ORPHA:63442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia HP:0005692 ORPHA:63442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000028 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000789 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001249 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001270 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001319 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001371 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001999 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002033 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0008947 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0011968 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012758 ORPHA:398069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000046 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000060 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000064 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000135 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000478 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000486 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000708 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000729 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000750 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000786 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001256 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001315 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001328 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001508 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001558 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001612 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001773 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002020 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002119 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002591 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002650 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002808 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0003241 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0004322 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0004324 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0005968 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0006889 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0008197 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0008734 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0010535 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012166 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012287 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012450 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012506 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012743 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0025160 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0040288 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0100543 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0200055 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0410263 ORPHA:398069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000054 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000217 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000219 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000446 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000545 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000565 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000709 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000722 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000826 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000938 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0000939 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001010 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001250 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001254 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001385 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0001631 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002205 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002494 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002714 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0002870 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0005599 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0005978 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0007874 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0010536 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0010829 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0011787 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0012411 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0025237 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0040030 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome HP:0100710 ORPHA:398069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206599 Isolated asymptomatic elevation of creatine phosphokinase HP:0003236 ORPHA:206599 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:206599 Isolated asymptomatic elevation of creatine phosphokinase HP:0000118 ORPHA:206599 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:206599 Isolated asymptomatic elevation of creatine phosphokinase HP:0003198 ORPHA:206599 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:206599 Isolated asymptomatic elevation of creatine phosphokinase HP:0008331 ORPHA:206599 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0000952 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0001081 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0002027 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0002904 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0003155 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0011980 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0040319 ORPHA:521219 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0001649 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0001733 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0001945 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0002013 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0002018 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0002039 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0002910 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0003270 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0011848 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0025143 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0410019 ORPHA:521219 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0030154 ORPHA:521219 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:521219 Mirizzi syndrome HP:0100889 ORPHA:521219 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0012073 ORPHA:391417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0000529 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0000750 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0001250 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0001263 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0001328 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0002342 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0002376 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0040155 ORPHA:391417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0000365 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0000648 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0000708 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0000729 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0000736 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0001251 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0001260 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0001266 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0001288 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0001336 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0004925 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0006892 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0007042 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0008947 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0012433 ORPHA:391417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0000252 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0000639 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0001337 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0001347 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0002015 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0002063 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0002119 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0002307 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0002313 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0002579 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0007030 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0008897 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391417 HSD10 disease HP:0011470 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000709 ORPHA:96369 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000708 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000712 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000716 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000717 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000729 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000736 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000737 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000738 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000739 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000746 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0001289 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0001328 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000712 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0002332 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0002463 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0008763 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0030858 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0031466 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0031469 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0100543 ORPHA:96369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000711 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000722 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000745 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0000751 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0002039 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0002367 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0002591 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0007018 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0010865 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0011999 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0012154 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0025160 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0031354 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0031588 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0031589 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0100851 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0100962 ORPHA:96369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0008765 ORPHA:96369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0030018 ORPHA:96369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0040306 ORPHA:96369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0100754 ORPHA:96369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96369 Early-onset schizophrenia HP:0100786 ORPHA:96369 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0000011 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0000020 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0000708 ORPHA:206583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0000726 ORPHA:206583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0001249 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0001251 ORPHA:206583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0001257 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0001269 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0001288 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0001324 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0001376 ORPHA:206583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0002071 ORPHA:206583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0002839 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0002936 ORPHA:206583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0003457 ORPHA:206583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0007256 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0009830 ORPHA:206583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206583 Adult polyglucosan body disease HP:0200042 ORPHA:206583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63455 Paraneoplastic pemphigus HP:0000155 ORPHA:63455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63455 Paraneoplastic pemphigus HP:0008066 ORPHA:63455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63455 Paraneoplastic pemphigus HP:0012191 ORPHA:63455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63455 Paraneoplastic pemphigus HP:0100242 ORPHA:63455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63455 Paraneoplastic pemphigus HP:0100522 ORPHA:63455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:63455 Paraneoplastic pemphigus HP:0200041 ORPHA:63455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:63455 Paraneoplastic pemphigus HP:0200097 ORPHA:63455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000735 ORPHA:97685 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000736 ORPHA:97685 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001480 ORPHA:97685 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0007565 ORPHA:97685 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000271 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000529 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000708 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000822 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001072 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001328 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001627 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001999 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002076 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002315 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002354 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002360 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002463 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0004562 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0009732 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0009737 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0011442 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0025105 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0100585 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0200034 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0410263 ORPHA:97685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000337 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000486 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000490 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000501 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000520 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000610 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000618 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000729 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000823 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000925 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000935 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000938 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000939 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001034 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001176 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001249 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001250 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001263 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001271 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001297 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001511 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001639 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001642 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001680 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001833 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001920 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002088 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002092 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002650 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002797 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002808 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0003165 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0004322 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0004944 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0007236 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0007359 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0007524 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0007850 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0009733 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0009734 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0010795 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0010796 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0012492 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0012531 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0030692 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0031023 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0032458 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0100008 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0100697 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0100817 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0430022 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:3000062 ORPHA:97685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000316 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000369 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000465 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000494 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0000826 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0001909 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002666 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002859 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002863 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0002979 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0003001 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0003002 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0005280 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0006610 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0100252 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0100723 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:97685 17q11 microdeletion syndrome HP:0100775 ORPHA:97685 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000337 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000455 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002007 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0003196 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0011800 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0012736 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0012758 ORPHA:798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000078 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000126 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000154 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000158 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000260 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000316 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000329 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000341 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000356 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000369 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000470 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000505 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000520 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000586 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000885 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001250 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001531 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001627 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002079 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002119 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0004554 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0009882 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0011039 ORPHA:798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000168 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000187 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000218 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000278 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000347 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000375 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000452 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000522 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000684 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000765 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000889 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001537 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001545 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001734 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001845 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002089 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002098 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002120 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002190 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002251 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002645 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002694 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002751 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002982 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0003173 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0007099 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0008610 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0008628 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0009792 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0010034 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0010464 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0010557 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0045005 ORPHA:798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000023 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000047 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000054 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000069 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000107 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000280 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000322 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0000787 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001257 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001276 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001601 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0001605 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002015 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002521 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002650 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002667 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002884 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002888 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0002974 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0005349 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0006532 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0009748 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0011097 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0011471 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0011787 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0012324 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0012385 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0025259 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:798 Schinzel-Giedion syndrome HP:0030736 ORPHA:798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000554 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001386 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001410 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001824 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001873 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001882 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001945 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002088 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002094 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002103 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002202 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0003011 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0011121 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0012219 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0012378 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0012735 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0100749 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0100828 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0200036 ORPHA:797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000083 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000121 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000433 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000501 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000502 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000518 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000618 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000620 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000787 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000873 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000953 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001010 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001097 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001399 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001409 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001482 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001596 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001903 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001970 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002097 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002107 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002110 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002150 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002206 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002240 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002716 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002733 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002781 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002921 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002922 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0003072 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0003701 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0004756 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0007734 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0009830 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0010310 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0010628 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0011024 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0011675 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0011801 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0011850 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0012062 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0012243 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0012722 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0030146 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0030872 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0040186 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0100699 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0200035 ORPHA:797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000821 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000834 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0000836 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001878 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0001880 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002045 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:797 Sarcoidosis HP:0002105 ORPHA:797 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:799 Schizencephaly HP:0000486 ORPHA:799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:799 Schizencephaly HP:0001249 ORPHA:799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:799 Schizencephaly HP:0001250 ORPHA:799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:799 Schizencephaly HP:0001257 ORPHA:799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:799 Schizencephaly HP:0001263 ORPHA:799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:799 Schizencephaly HP:0001269 ORPHA:799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:799 Schizencephaly HP:0002132 ORPHA:799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:799 Schizencephaly HP:0002353 ORPHA:799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:799 Schizencephaly HP:0002510 ORPHA:799 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:799 Schizencephaly HP:0007370 ORPHA:799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002151 ORPHA:391428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002490 ORPHA:391428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0003287 ORPHA:391428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0012379 ORPHA:391428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000618 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000750 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001250 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001252 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001263 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001942 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001943 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002059 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002180 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002376 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0003128 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0011343 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001263 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0500170 ORPHA:391428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000252 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000365 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000510 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000546 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000572 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000639 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000648 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000711 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000749 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0000961 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001260 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001264 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001266 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001285 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001332 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001344 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001639 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001640 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001987 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0001999 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002015 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002134 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002370 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002421 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002487 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002506 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002579 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0006892 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0002505 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0007030 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0010864 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0010936 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0012707 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391428 HSD10 disease, infantile type HP:0030391 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000028 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000160 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000230 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000256 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000286 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000431 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000506 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0045075 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000653 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000938 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000963 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000973 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000974 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000987 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001000 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001075 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001166 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001252 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001263 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001371 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001510 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001642 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001650 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001763 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0001999 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0002209 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0002652 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0002751 ORPHA:75496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0003202 ORPHA:75496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0004322 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0005328 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0005692 ORPHA:75496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0006481 ORPHA:75496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0007469 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0009125 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0010511 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0100813 ORPHA:75496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0001388 ORPHA:750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0008873 ORPHA:750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0000926 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0001156 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0002515 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0002663 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0002758 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0002761 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0002829 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0002938 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0003016 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0003025 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0003026 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0003312 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0005720 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0006149 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0009803 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0009826 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0010582 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0020152 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0045086 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0100531 ORPHA:750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0001377 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0001387 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0002650 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0002857 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0002970 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0003015 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0003090 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0003093 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0003180 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0003756 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0004236 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0004568 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0006460 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0006499 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0008807 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0008833 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0008839 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0009107 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0010579 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0010585 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0100864 ORPHA:750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0003311 ORPHA:750 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:750 Pseudoachondroplasia HP:0010646 ORPHA:750 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0000023 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0000963 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0000974 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0000978 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0001537 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0002020 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0030680 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0004322 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0005692 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75497 X-linked Ehlers-Danlos syndrome HP:0100790 ORPHA:75497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000028 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000037 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000044 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000062 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000771 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000789 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000795 ORPHA:752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000821 ORPHA:752 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0030439 ORPHA:424016 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0002025 ORPHA:424016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0002027 ORPHA:424016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0002584 ORPHA:424016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0002716 ORPHA:424016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0002896 ORPHA:424016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0010622 ORPHA:424016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0012432 ORPHA:424016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0100526 ORPHA:424016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0002035 ORPHA:424016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0100743 ORPHA:424016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424016 Adenocarcinoma of the anal canal HP:0200042 ORPHA:424016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0030438 ORPHA:424019 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002027 ORPHA:424019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002584 ORPHA:424019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002716 ORPHA:424019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0012740 ORPHA:424019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002025 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002035 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0002896 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0010622 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0100526 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0100743 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424019 Squamous cell carcinoma of the anal canal HP:0200042 ORPHA:424019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0007325 ORPHA:589618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0033049 ORPHA:589618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000252 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000473 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0001249 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0001260 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0002015 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0004322 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0012758 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0031959 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000276 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000414 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000639 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000716 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000729 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000739 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000821 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000826 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0001618 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0002425 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0004209 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0007018 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0007256 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0012048 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0031960 ORPHA:589618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0000486 ORPHA:589618 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:589618 Dystonia 28 HP:0011968 ORPHA:589618 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0010763 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0012385 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0012724 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000028 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000365 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000389 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000776 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0001385 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0001513 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0002751 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0002870 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0012393 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0200053 ORPHA:412035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000219 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000272 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000430 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000540 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000677 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000742 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000750 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0000752 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0001047 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0001508 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0001511 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0002013 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0002019 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0002205 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0002342 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0004322 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412035 13q12.3 microdeletion syndrome HP:0007328 ORPHA:412035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0006517 ORPHA:747 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0000961 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0001217 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0002087 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0002094 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0002091 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0003651 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0010876 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0012418 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0025435 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0030057 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0045051 ORPHA:747 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0012735 ORPHA:747 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0025391 ORPHA:747 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0030830 ORPHA:747 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0001824 ORPHA:747 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0001945 ORPHA:747 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0002105 ORPHA:747 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0012378 ORPHA:747 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0100749 ORPHA:747 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001284 ORPHA:746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003201 ORPHA:746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003546 ORPHA:746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001252 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001254 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001324 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001531 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001635 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001638 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001712 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001985 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002033 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002901 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003394 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003551 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003756 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0006555 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0007340 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0008872 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0009063 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0009830 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0011808 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0100626 ORPHA:746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0000580 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0000829 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001250 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001259 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001270 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001396 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001653 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0001761 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002093 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002359 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002878 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003324 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003326 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0003487 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0005180 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0008110 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0008138 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0011675 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0030051 ORPHA:746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0002476 ORPHA:746 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0007067 ORPHA:746 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0007141 ORPHA:746 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0025145 ORPHA:746 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0000488 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0000963 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0000979 ORPHA:743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0001000 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0001933 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0002204 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0002625 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0004418 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0004420 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0005293 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0008065 ORPHA:743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0100659 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0100758 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency HP:0200042 ORPHA:743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000294 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000316 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000347 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000365 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000370 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000457 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000505 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000520 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000670 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000958 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000962 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000963 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000982 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000989 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0000992 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0001007 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0001166 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0001231 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0001249 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0001744 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0001999 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0002205 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0002211 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0002230 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0002240 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0002715 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0002857 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0003272 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0004349 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0005280 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0007473 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0007598 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0007703 ORPHA:742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0008065 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0010669 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0010783 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0012786 ORPHA:742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0200034 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:742 Prolidase deficiency HP:0200042 ORPHA:742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0000963 ORPHA:745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0000979 ORPHA:745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0001000 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0001038 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0002204 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0004936 ORPHA:745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0005293 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0008065 ORPHA:745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0100659 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency HP:0100758 ORPHA:745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000009 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000011 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000126 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000707 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000925 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000998 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0002650 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0002751 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0003396 ORPHA:573278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000020 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000047 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000075 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000085 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000238 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0001760 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0001762 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0001763 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0002308 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0002385 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0002435 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0002475 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0002607 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0003307 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0003418 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0003419 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0004696 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0008081 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0009053 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0010781 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0012514 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0025480 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0025488 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0031283 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0100711 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0100712 ORPHA:573278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0000953 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0001026 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0002144 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0002937 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0003316 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0005306 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0005857 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0009792 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0010302 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0012032 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0030725 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0100559 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0100565 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573278 Split cord malformation HP:0100702 ORPHA:573278 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000040 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000256 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000268 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000276 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000311 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000324 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000520 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000567 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000873 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000995 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001000 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001072 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0005916 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001249 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001250 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001363 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001482 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001744 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002230 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002650 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002652 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002664 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002858 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0003199 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0003312 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0003715 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0004099 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0004326 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0004418 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0004490 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0005306 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0005595 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0007440 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0007703 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0010508 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0010516 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0011276 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0012032 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100006 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100026 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100521 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100526 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100555 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100559 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100560 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100615 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100730 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100761 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100764 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100774 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000053 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000107 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000316 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000369 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000400 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000463 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000464 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000486 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000494 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000501 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000508 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000518 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000545 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000557 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000670 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0000682 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001004 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001167 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001387 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001519 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001555 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001597 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001645 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0001822 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002204 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002282 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0030680 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002719 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002808 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002827 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0003019 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0004209 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0004420 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0005280 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0006101 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0002101 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0007400 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0007552 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0007565 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0007818 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0007899 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0008675 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0009594 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0009804 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0009928 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0010497 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0010566 ORPHA:744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0010788 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0010816 ORPHA:744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0011386 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:744 Proteus syndrome HP:0100777 ORPHA:744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000546 ORPHA:166035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000707 ORPHA:166035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001156 ORPHA:166035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001999 ORPHA:166035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0004322 ORPHA:166035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000510 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000662 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000750 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001249 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001263 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0011968 ORPHA:166035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000023 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000028 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000085 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000107 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000347 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000369 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000400 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000430 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000494 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000512 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000561 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000818 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000957 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001123 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001319 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001363 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001511 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001596 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001629 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001763 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001792 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0001822 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0002007 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0002120 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0002194 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0002223 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0002342 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0005345 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0005871 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0007099 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0008064 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0010049 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0010761 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0030148 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0030455 ORPHA:166035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0002540 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0007164 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0001249 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0001250 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0001265 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0001621 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0001761 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0002066 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0002304 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0002650 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0004305 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0007256 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0007311 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0008969 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0012378 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0012444 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0012638 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0100022 ORPHA:391411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0001336 ORPHA:391411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0002362 ORPHA:391411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0002425 ORPHA:391411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0000338 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0001332 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0002063 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0002067 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0002172 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391411 Atypical juvenile parkinsonism HP:0002322 ORPHA:391411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0000017 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0000716 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0000739 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0000873 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0001250 ORPHA:178029 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0001254 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0001262 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0001508 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0001824 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0001944 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0001945 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0001959 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0002014 ORPHA:178029 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0002017 ORPHA:178029 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0002039 ORPHA:178029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0002315 ORPHA:178029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:178029 Central diabetes insipidus HP:0002902 ORPHA:178029 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000160 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000233 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000347 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000405 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001525 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001544 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001824 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0007394 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0007485 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0008647 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0011354 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0100678 ORPHA:740 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000050 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000134 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000200 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000218 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000278 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000418 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000436 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000586 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000855 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001376 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001620 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001633 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001646 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001810 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002232 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002362 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002621 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002673 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002827 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002875 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0003292 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0004482 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0005461 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0007418 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0008391 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0008573 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0010296 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0011832 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0012569 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0025168 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0100679 ORPHA:740 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000331 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000444 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000668 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000678 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000684 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000765 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000822 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000894 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000905 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0000961 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001034 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001297 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001387 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001650 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001653 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001658 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001659 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001714 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001718 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001757 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002170 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002223 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002326 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002758 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002781 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0004334 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0004349 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0004380 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0004382 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0006248 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0006335 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0006467 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0007957 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0008800 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0009839 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0009904 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0010505 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0010766 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0010885 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0011079 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0011457 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0012474 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0030002 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0030838 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0030880 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0200034 ORPHA:740 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0001681 ORPHA:740 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0002092 ORPHA:740 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0012804 ORPHA:740 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:740 Hutchinson-Gilford progeria syndrome HP:0025169 ORPHA:740 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000978 ORPHA:324636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0012531 ORPHA:324636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0031364 ORPHA:324636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0012378 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0025406 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002315 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0001945 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002829 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0003326 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000421 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002239 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0005261 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000790 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002170 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0033676 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0001894 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0008352 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0003645 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0001877 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0001973 ORPHA:324636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000708 ORPHA:324636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000716 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000739 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000989 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0025474 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000969 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0040064 ORPHA:324636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000271 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002321 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0410019 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002018 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002013 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0002014 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000132 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000712 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0100716 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0030140 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0012233 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0000707 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0008770 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0012076 ORPHA:324636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324636 Autoerythrocyte sensitization syndrome HP:0031190 ORPHA:324636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000028 ORPHA:739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000789 ORPHA:739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001270 ORPHA:739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0004322 ORPHA:739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001252 ORPHA:739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000046 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000059 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000060 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000064 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000135 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000164 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000486 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000704 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000708 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000750 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000786 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000819 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000824 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000938 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000939 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000969 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001010 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001055 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001256 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001265 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001328 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001508 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001558 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001612 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001773 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001999 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002033 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002119 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002205 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002494 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002578 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002591 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002650 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002659 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002870 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0003241 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0005599 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0006889 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0007018 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0008734 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0010536 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0010829 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0011734 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0012506 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0012650 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0012743 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0030339 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0200055 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0410263 ORPHA:739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000217 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000446 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000709 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000729 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000822 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001250 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001297 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001385 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002013 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0001262 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002342 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002500 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0002714 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0007874 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0011470 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0011787 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0012411 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0012412 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0031100 ORPHA:739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:739 Prader-Willi syndrome HP:0000826 ORPHA:739 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:735 Porokeratosis of Mibelli HP:0000962 ORPHA:735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:735 Porokeratosis of Mibelli HP:0000989 ORPHA:735 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:735 Porokeratosis of Mibelli HP:0000992 ORPHA:735 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:735 Porokeratosis of Mibelli HP:0008065 ORPHA:735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:735 Porokeratosis of Mibelli HP:0200044 ORPHA:735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000252 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000819 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001249 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001518 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0003508 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0011451 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000823 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001250 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001263 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001511 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001943 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001999 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002465 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0004325 ORPHA:391408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000160 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000219 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000274 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000275 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000286 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000293 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000294 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000311 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000322 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000341 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000343 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000347 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000400 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000407 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000445 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000463 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000470 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000494 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000592 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000601 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000664 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000677 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000685 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000767 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000821 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001238 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001321 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001348 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001388 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001620 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0001946 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002079 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002136 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002213 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002313 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002365 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002460 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002650 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002714 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0002751 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0003196 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0007258 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0008070 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0008081 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0008850 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0008936 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0010344 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0010864 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0011308 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0012448 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0025383 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0030084 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0200021 ORPHA:391408 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0000708 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0000738 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0000822 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0000989 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0000992 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0001000 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0001250 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0001324 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0001945 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0002014 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0002017 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0002019 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0002027 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0002039 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0002360 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0003401 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0005679 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0008066 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0010472 ORPHA:738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0012086 ORPHA:738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0012378 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0100021 ORPHA:738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:738 Porphyria HP:0100749 ORPHA:738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0000972 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0025528 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0040211 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0045059 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0100872 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0200035 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0200044 ORPHA:737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0000989 ORPHA:737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0002814 ORPHA:737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:737 Porokeratosis plantaris palmaris et disseminata HP:0011354 ORPHA:737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0000091 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0000934 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001252 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001288 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001315 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001369 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001608 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001618 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001633 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001635 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001639 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001644 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001658 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001701 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001824 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0001945 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002019 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002020 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002027 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002039 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002093 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002206 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002239 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002240 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002633 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002829 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002875 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0002960 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0003002 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0003236 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0003326 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0003457 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0003701 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0004303 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0004936 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0005150 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0006530 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0011675 ORPHA:732 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0012378 ORPHA:732 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0012544 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:732 Polymyositis HP:0012735 ORPHA:732 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000105 ORPHA:731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000113 ORPHA:731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000822 ORPHA:731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001395 ORPHA:731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001405 ORPHA:731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000083 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001396 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001409 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001510 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001562 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001744 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001971 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002040 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002089 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002612 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002630 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002878 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002902 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0003774 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0004905 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0005565 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0006560 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0011040 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0011892 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0011968 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0012202 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0030948 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0100512 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0100513 ORPHA:731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000010 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000952 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001433 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001541 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001873 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001919 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001959 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002239 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002243 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002791 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002884 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0006532 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0030151 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0100520 ORPHA:731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000347 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000369 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0000457 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0001737 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0002108 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0030153 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0040064 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:731 Autosomal recessive polycystic kidney disease HP:0100543 ORPHA:731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0003003 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0005227 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0007378 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0007649 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0100245 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0200063 ORPHA:733 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0000164 ORPHA:733 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0004394 ORPHA:733 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0004783 ORPHA:733 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0100246 ORPHA:733 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0000706 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0000820 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0002895 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0006771 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0010615 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0011068 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0011069 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0100631 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0100717 ORPHA:733 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0000821 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0000853 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0001733 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0002884 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0002885 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0002888 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0002893 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0005230 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0006725 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0009592 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0010614 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0011355 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0012032 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0012126 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0030153 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0030692 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0031459 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0040274 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0100575 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0100646 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:733 Familial adenomatous polyposis HP:0200040 ORPHA:733 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0000271 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0000365 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0000407 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0000505 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0000510 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0000518 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0000639 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0000648 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0000662 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0000708 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0001250 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0001251 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0001252 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0001257 ORPHA:772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0001263 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0001508 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0001638 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0002240 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0003323 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0004322 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0005930 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0001133 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0008064 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0008167 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0010571 ORPHA:772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0010628 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:772 Infantile Refsum disease HP:0011675 ORPHA:772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0000421 ORPHA:774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001048 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001081 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001250 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001394 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001399 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001635 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002092 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002138 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002204 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002326 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0007420 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100659 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100761 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0200008 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0000524 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0000646 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0000787 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0000790 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001082 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001342 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001409 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0001935 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002040 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002076 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002105 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0002239 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0004936 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0007763 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0011025 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100026 ORPHA:774 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100579 ORPHA:774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100585 ORPHA:774 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:774 Hereditary hemorrhagic telangiectasia HP:0100784 ORPHA:774 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000083 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000458 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000478 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000488 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000496 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000504 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000505 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000508 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000518 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000529 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000568 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000639 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000662 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000958 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0001251 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0001638 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0001744 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000407 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0000616 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0001252 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0001760 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0001761 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0001765 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0001939 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0002093 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0002164 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0002376 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0002652 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0003202 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0004374 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0005930 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0007256 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0007703 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0008064 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0009830 ORPHA:773 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0010049 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0010864 ORPHA:773 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:773 Refsum disease HP:0012722 ORPHA:773 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0000716 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0000738 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0000739 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0001250 ORPHA:770 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0001645 ORPHA:770 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0001945 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0002014 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0002017 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0002039 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0002076 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0003401 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0003781 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0004372 ORPHA:770 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0007018 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0100021 ORPHA:770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0100776 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0100785 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0000708 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:770 Rabies HP:0001604 ORPHA:770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0001945 ORPHA:324625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0002829 ORPHA:324625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0012378 ORPHA:324625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0000745 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0000988 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0001369 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0001386 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0001387 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0002315 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0003326 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0005198 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0007483 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0010741 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0010783 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0012733 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0030834 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0030839 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0040186 ORPHA:324625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0000225 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0000282 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0000421 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0000613 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0000716 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0000967 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0000989 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0000992 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0001892 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0002013 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0002014 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0007473 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0008066 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0009830 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0012219 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0025143 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0025232 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0025289 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0025337 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0032063 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0040165 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0100686 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0100769 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0200037 ORPHA:324625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0001250 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0002383 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0002716 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0002797 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0003401 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0003406 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0012185 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0030880 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324625 Chikungunya HP:0031002 ORPHA:324625 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001260 ORPHA:412057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001272 ORPHA:412057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002070 ORPHA:412057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002078 ORPHA:412057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001166 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001181 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001288 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001347 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002172 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002317 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002355 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0005328 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0010831 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0012896 ORPHA:412057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000135 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000365 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000602 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000639 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000640 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000666 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001263 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001321 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002015 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002061 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002063 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002167 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002174 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002346 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002354 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002378 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0003693 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0006801 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0007371 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0011098 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0011448 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0012104 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0012110 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0100543 ORPHA:412057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000501 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000657 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000789 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000821 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0000876 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001094 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001105 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001152 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001250 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001596 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001733 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001999 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0002679 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0005978 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0012547 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0012569 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0100651 ORPHA:412057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0000842 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0004322 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0001744 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0004444 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0010047 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome HP:0001742 ORPHA:66518 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0003758 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0004322 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0008283 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0008665 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0008850 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0011998 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0012542 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000998 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0001007 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0001249 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0001263 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0001511 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0002719 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0003162 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000040 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000164 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000678 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000831 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000855 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000956 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000958 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0030088 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0030348 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0030796 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0031452 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0100874 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0100879 ORPHA:769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000121 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000158 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000212 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000218 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000221 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000280 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000294 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000303 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000400 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000426 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000445 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000463 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000488 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000821 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0000826 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0001629 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0001631 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0001638 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0001953 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0001959 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0002216 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0002750 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0002900 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0006288 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0007305 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0009830 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0010442 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0012686 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:769 Rabson-Mendenhall syndrome HP:0040270 ORPHA:769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002654 ORPHA:166011 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0004586 ORPHA:166011 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0000365 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0000545 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001156 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001376 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001384 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001385 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002515 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002758 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002812 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002857 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002945 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0003170 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0003365 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0004322 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0004592 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0005054 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0005787 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0008812 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0030839 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0031955 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0100864 ORPHA:166011 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0000518 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001387 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0001510 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0002943 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0003370 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0003419 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0003888 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0005923 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0006019 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0006508 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0010741 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0011911 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0030329 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0030672 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0031174 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type HP:0100712 ORPHA:166011 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000218 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000243 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000252 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000275 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000286 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000316 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000343 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000431 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000496 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000582 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000767 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001012 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001250 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001251 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001252 ORPHA:765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001254 ORPHA:765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001257 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001260 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001263 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001266 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001288 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001332 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001337 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001510 ORPHA:765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001511 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0001999 ORPHA:765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0002007 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0002094 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0002119 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0002789 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0007256 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0007370 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0008872 ORPHA:765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0100021 ORPHA:765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0100453 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0000316 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0000347 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0000455 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0000582 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0000766 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0001156 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0002650 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0002656 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0002663 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0002857 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0003038 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0003071 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0003083 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0004322 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0008905 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0010585 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0100168 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0410005 ORPHA:166016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0006380 ORPHA:166016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type HP:0006471 ORPHA:166016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0000083 ORPHA:764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0001482 ORPHA:764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0001645 ORPHA:764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0001824 ORPHA:764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0001945 ORPHA:764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0001974 ORPHA:764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0002719 ORPHA:764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0003326 ORPHA:764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0100614 ORPHA:764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0100616 ORPHA:764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0100806 ORPHA:764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:764 Pyomyositis HP:0100838 ORPHA:764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0011121 ORPHA:767 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0000077 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0001824 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0001945 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0002829 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0003326 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0009830 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0011227 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0031003 ORPHA:767 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0000707 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0000822 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0000965 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0001482 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0001701 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0002011 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0002027 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0002088 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0003390 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0010783 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0011024 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0030680 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0030880 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0200042 ORPHA:767 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0000478 ORPHA:767 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0001638 ORPHA:767 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:767 Polyarteritis nodosa HP:0002102 ORPHA:767 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001744 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001877 ORPHA:766 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001903 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001923 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0004870 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0008282 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0025109 ORPHA:766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001789 ORPHA:766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0003281 ORPHA:766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0003452 ORPHA:766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0004804 ORPHA:766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0006579 ORPHA:766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0004447 ORPHA:766 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0011273 ORPHA:766 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0012463 ORPHA:766 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0003236 ORPHA:206559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0006785 ORPHA:206559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0030099 ORPHA:206559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0001328 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0002194 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0002355 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0003551 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0007126 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0030197 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0100543 ORPHA:206559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0001263 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0001644 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0002119 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0002540 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0003691 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0003697 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0006913 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0008981 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0011712 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206559 POMT2-related limb-girdle muscular dystrophy R14 HP:0025169 ORPHA:206559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0000083 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0000093 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0000648 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0000790 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0000969 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0000978 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0000979 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0000988 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0001025 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0001250 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0001324 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0001369 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0001945 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0002017 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0002027 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0002039 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0002076 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0002091 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0002239 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0002383 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0002633 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0002829 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0003326 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0004374 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0005244 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0010783 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0011276 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0012733 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0100534 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0100665 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0100796 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0100820 ORPHA:761 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0200039 ORPHA:761 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:761 Immunoglobulin A vasculitis HP:0200042 ORPHA:761 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002843 ORPHA:760 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0011935 ORPHA:760 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0000707 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001890 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002205 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002719 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002960 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0003537 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0004430 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0005363 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0032166 ORPHA:760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0000708 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0000752 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001249 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001251 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001252 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001257 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001263 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001276 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001888 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002313 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002664 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0011442 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0045080 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0100021 ORPHA:760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0000407 ORPHA:760 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001297 ORPHA:760 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0001973 ORPHA:760 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:760 Purine nucleoside phosphorylase deficiency HP:0002725 ORPHA:760 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0001156 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002007 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0004474 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0005446 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0005906 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0008873 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0009839 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0011001 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0030353 ORPHA:763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000164 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000270 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000327 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000347 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000444 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000448 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000520 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000592 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000824 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0001511 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0001597 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0001773 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002659 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002870 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0005789 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0008598 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0009381 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0011800 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0012532 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0200055 ORPHA:763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000218 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000668 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000670 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000680 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000689 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000696 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000889 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0001601 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0001807 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002164 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002645 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002650 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002866 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0003027 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0003302 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0003304 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0006297 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0006335 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0008905 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0010307 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0010884 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0011342 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0025502 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0100559 ORPHA:763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000486 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000539 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000707 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0000774 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0001388 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0001433 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002308 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002493 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002516 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0002808 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0003307 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0004440 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:763 Pycnodysostosis HP:0007266 ORPHA:763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000750 ORPHA:436003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001270 ORPHA:436003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000162 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000175 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000347 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000396 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001166 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001167 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001385 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001762 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002870 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002974 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0003396 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0009778 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0012430 ORPHA:436003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000023 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000047 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000394 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000430 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000486 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000494 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0000612 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001239 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001631 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001840 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0001845 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002360 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002687 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002705 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0002944 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0004969 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0007099 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0007359 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0008551 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0009929 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome HP:0025100 ORPHA:436003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0012663 ORPHA:66529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0010872 ORPHA:66529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0012251 ORPHA:66529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0100749 ORPHA:66529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0410174 ORPHA:66529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0000822 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001513 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001657 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001681 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001962 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0002013 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0002094 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0002615 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0005184 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0006698 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0008180 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0009805 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0012250 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0025077 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0031138 ORPHA:66529 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001250 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001279 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001653 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001662 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001663 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001727 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0004308 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0005110 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0011675 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0030149 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0100598 ORPHA:66529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0001677 ORPHA:66529 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0005145 ORPHA:66529 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:66529 Tako-Tsubo cardiomyopathy HP:0006704 ORPHA:66529 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000121 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000218 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000474 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000488 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000505 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000545 ORPHA:758 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000573 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000592 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000765 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000821 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000822 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000951 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000974 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000978 ORPHA:758 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000988 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0000989 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0001012 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0001061 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0001065 ORPHA:758 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0001102 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0001482 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0001634 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0001645 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0001681 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0001723 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0001872 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0002172 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0002239 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0002514 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0030680 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0002617 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0002621 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0002650 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0004306 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0004374 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0005692 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0007392 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0012508 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0100545 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0100585 ORPHA:758 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0100659 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:758 Pseudoxanthoma elasticum HP:0100679 ORPHA:758 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:757 Pseudohypoaldosteronism type 2 HP:0000164 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:757 Pseudohypoaldosteronism type 2 HP:0000682 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:757 Pseudohypoaldosteronism type 2 HP:0000822 ORPHA:757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:757 Pseudohypoaldosteronism type 2 HP:0001324 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:757 Pseudohypoaldosteronism type 2 HP:0001510 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:757 Pseudohypoaldosteronism type 2 HP:0002017 ORPHA:757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:757 Pseudohypoaldosteronism type 2 HP:0002153 ORPHA:757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:757 Pseudohypoaldosteronism type 2 HP:0003768 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:757 Pseudohypoaldosteronism type 2 HP:0004322 ORPHA:757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002938 ORPHA:206546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003236 ORPHA:206546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003701 ORPHA:206546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0001435 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0001644 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0001712 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002540 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002942 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002943 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003324 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003326 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003394 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003710 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003731 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0008981 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0030097 ORPHA:206546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0001635 ORPHA:206546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002987 ORPHA:206546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002380 ORPHA:206546 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0003409 ORPHA:206546 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0000008 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0000098 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0000151 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0000786 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0003251 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0008655 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0008689 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0008730 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0011969 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0012888 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0025134 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0030088 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0040314 ORPHA:99429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0000823 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0002215 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0002221 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0002225 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0002555 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0031102 ORPHA:99429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0010788 ORPHA:99429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0001061 ORPHA:99429 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0030346 ORPHA:99429 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99429 Complete androgen insensitivity syndrome HP:0100728 ORPHA:99429 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0008236 ORPHA:759 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0000837 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0001548 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0002805 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0003508 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0004324 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0009888 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0010314 ORPHA:759 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0001061 ORPHA:759 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0001513 ORPHA:759 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0002444 ORPHA:759 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0000238 ORPHA:759 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0000957 ORPHA:759 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:759 Central precocious puberty HP:0001287 ORPHA:759 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0000008 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0000023 ORPHA:754 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0000028 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0000033 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0000037 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0000130 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0000823 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0002215 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0002221 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0002225 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0002555 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0003251 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0008655 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0008684 ORPHA:754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:754 Androgen insensitivity syndrome HP:0010788 ORPHA:754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000028 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000033 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000046 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000048 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000051 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000062 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000144 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000818 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0008736 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0100779 ORPHA:753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:55881 Adamantinoma HP:0002653 ORPHA:55881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:55881 Adamantinoma HP:0002756 ORPHA:55881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:55881 Adamantinoma HP:0003072 ORPHA:55881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0001638 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0002913 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0002987 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003089 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003691 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0006466 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0008981 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0009129 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0010628 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0012785 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003326 ORPHA:206549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0006785 ORPHA:206549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0008994 ORPHA:206549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0009053 ORPHA:206549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0001430 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0002816 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003236 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003445 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003458 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003482 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003555 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003557 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003730 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0003738 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0004303 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0007210 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0008988 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0008997 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0009050 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0012548 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0031237 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0100295 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0100297 ORPHA:206549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0001239 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0001371 ORPHA:206549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000026 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000028 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000037 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000047 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000054 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000062 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000118 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000134 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000151 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000786 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000811 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000812 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000815 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000837 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0002750 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0008187 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0008193 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0010790 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0040171 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0100783 ORPHA:755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000030 ORPHA:755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0000869 ORPHA:755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:755 Leydig cell hypoplasia HP:0012872 ORPHA:755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000207 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000256 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000316 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000431 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000767 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0000924 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0001249 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002007 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002419 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002654 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002663 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002857 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0003037 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0030084 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0031092 ORPHA:166024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0001274 ORPHA:166024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002079 ORPHA:166024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002829 ORPHA:166024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0004322 ORPHA:166024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0002059 ORPHA:166024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0012725 ORPHA:166024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type HP:0003468 ORPHA:166024 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0000473 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0001336 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0001618 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002317 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002346 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002355 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002356 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002530 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0004373 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0012179 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0012893 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0200085 ORPHA:420492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002883 ORPHA:420492 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0005115 ORPHA:420492 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0025269 ORPHA:420492 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0001272 ORPHA:420492 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:420492 Adult-onset cervical dystonia, DYT23 type HP:0002120 ORPHA:420492 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000003 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000023 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000098 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000126 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000135 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000160 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000218 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000232 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000248 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000252 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000278 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000286 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000319 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000340 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000341 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000343 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000348 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000365 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000369 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000411 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000426 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000431 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000486 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000494 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000505 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000506 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000508 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000527 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0045075 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000581 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000609 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000648 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000717 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000729 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000750 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000767 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000771 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001182 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001252 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001260 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001263 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001288 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001290 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001321 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001508 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001510 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001511 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001561 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001601 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001611 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001653 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001659 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001763 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001840 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001852 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0001863 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002015 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002061 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002119 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002205 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002213 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002342 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002353 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002558 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002650 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002808 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0002999 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0005274 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0005487 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0006610 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0007018 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0007598 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0008734 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0010628 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0011968 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0100490 ORPHA:261349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0100625 ORPHA:261349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0000926 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0002655 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0002758 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0002983 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0003508 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0005930 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93283 Spondyloepiphyseal dysplasia, Kimberley type HP:0010306 ORPHA:93283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000003 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000028 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000046 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000062 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000126 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000160 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000175 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000238 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000256 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000308 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000316 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000356 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000369 ORPHA:261344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000445 ORPHA:261344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000476 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000494 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000528 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000601 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000772 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0000776 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001166 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001177 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001274 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001321 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001539 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001561 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001629 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001643 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001770 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001789 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001800 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0001833 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0002007 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0002023 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0002119 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0005280 ORPHA:261344 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0006610 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0008386 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0008676 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0010306 ORPHA:261344 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0010880 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261344 Trisomy 1q HP:0100490 ORPHA:261344 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0000926 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0001508 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0001552 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002654 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003051 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003088 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003521 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0004594 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0005775 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0012771 ORPHA:93284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0000470 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0001376 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0001386 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002763 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002829 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002945 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003043 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003365 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003418 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003855 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0005086 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0008843 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0010656 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0011001 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0030839 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0100569 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0100712 ORPHA:93284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002650 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002751 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002812 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002938 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002942 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002996 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003311 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003832 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0004586 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0004637 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0006233 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0006248 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0006467 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0008812 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0009763 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0010231 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0010575 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0025131 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0025263 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0040161 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0100864 ORPHA:93284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0003401 ORPHA:93284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0000175 ORPHA:93284 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0000541 ORPHA:93284 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0002960 ORPHA:93284 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0012649 ORPHA:93284 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:93284 Spondyloepiphyseal dysplasia tarda HP:0100769 ORPHA:93284 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000085 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000212 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000218 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000252 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000286 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000293 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000340 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000341 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000343 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000347 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000365 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000414 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000463 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000482 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000494 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000508 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0000518 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001162 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001250 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001252 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001263 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001328 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001336 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001399 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001406 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001508 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001511 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001770 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001830 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001873 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0001883 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0002240 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0002308 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0002435 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0002514 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0002714 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0003196 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0004422 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0004823 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0005487 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0007759 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0008278 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0008736 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0011875 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:46059 Lathosterolosis HP:0100711 ORPHA:46059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0001250 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0001257 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0001302 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0001319 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0002119 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0002187 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0002282 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0002521 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0008936 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0010864 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0011201 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0011968 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0012469 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0012758 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0020219 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0031882 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1084 Isolated lissencephaly type 1 without known genetic defects HP:0100952 ORPHA:1084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0000252 ORPHA:1083 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0000750 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0001263 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0002079 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0007190 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0007266 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0010864 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0025190 ORPHA:1083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0001276 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0001339 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0001347 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0001999 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0002119 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0002120 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0006891 ORPHA:1083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0001272 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0001302 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0002090 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0002126 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0007165 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0009879 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1083 Microlissencephaly HP:0032391 ORPHA:1083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000791 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001997 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0002149 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0003149 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0003240 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0012759 ORPHA:411543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000083 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000407 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000707 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001249 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001252 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001369 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0003149 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0020074 ORPHA:411543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001251 ORPHA:411543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001919 ORPHA:411543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0007178 ORPHA:411543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0009830 ORPHA:411543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000501 ORPHA:411543 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000545 ORPHA:411543 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0001263 ORPHA:411543 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity HP:0002205 ORPHA:411543 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000158 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000162 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000175 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000204 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000272 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000286 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000316 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000327 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000343 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000347 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000365 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000389 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000407 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000457 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000463 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000483 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000486 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000501 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000505 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000506 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000518 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000520 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000541 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000545 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000554 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000618 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000682 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000768 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000926 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0000940 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0001083 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0001166 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0001252 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0001373 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0001519 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0001533 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0001634 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0002020 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0002205 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0002650 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0002652 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0002653 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0002758 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0002808 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0002827 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0002829 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0002857 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0003179 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0003196 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0003202 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0003312 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0003416 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0004322 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0004326 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0004327 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0004349 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0004374 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0005280 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0005692 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0005930 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0006288 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0008872 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0009804 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0010290 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0010807 ORPHA:828 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0011675 ORPHA:828 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:828 Stickler syndrome HP:0011800 ORPHA:828 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0000531 ORPHA:98969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0001939 ORPHA:98969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0007759 ORPHA:98969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0007856 ORPHA:98969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0000495 ORPHA:98969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0001141 ORPHA:98969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0100689 ORPHA:98969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0000484 ORPHA:98969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0000613 ORPHA:98969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0012155 ORPHA:98969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98969 Macular corneal dystrophy HP:0200026 ORPHA:98969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0030057 ORPHA:398124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0000951 ORPHA:398124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001392 ORPHA:398124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001871 ORPHA:398124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0000238 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0000962 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0000988 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0000992 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001036 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001644 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001678 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001873 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001875 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001903 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0002240 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0002500 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0002910 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0011675 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0012722 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0025300 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0025474 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0040186 ORPHA:398124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0000256 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001399 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001627 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001657 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001744 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001876 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001878 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001892 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001915 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0002086 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0002135 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0002652 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0011702 ORPHA:398124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398124 Neonatal lupus erythematosus HP:0001396 ORPHA:398124 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0007663 ORPHA:827 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0000493 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0000551 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0000603 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0000608 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0000610 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0000649 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0000662 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0007704 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0007722 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0007814 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0008002 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0030329 ORPHA:827 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0008059 ORPHA:827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:827 Stargardt disease HP:0030500 ORPHA:827 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0000988 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0000989 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0001287 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0001369 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0001386 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0001701 ORPHA:829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0001744 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0001945 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0001974 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0002027 ORPHA:829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0002091 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0002102 ORPHA:829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0002240 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0002829 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0002910 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0003119 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0003326 ORPHA:829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0003565 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0005528 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0008940 ORPHA:829 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0010783 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0011227 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0011897 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0012115 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0012378 ORPHA:829 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0012819 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0100773 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:829 Adult-onset Still disease HP:0100776 ORPHA:829 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0005561 ORPHA:824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0000980 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001433 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001744 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001871 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001873 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001903 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0002240 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0012143 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0012378 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0025142 ORPHA:824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0000967 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0000979 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001409 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001876 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001892 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001894 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001945 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001974 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001977 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001978 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0002039 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0002716 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0003388 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0004420 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0004447 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0004936 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0011134 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0030157 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0031020 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0031364 ORPHA:824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0001028 ORPHA:824 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0004326 ORPHA:824 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0004377 ORPHA:824 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0025435 ORPHA:824 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:824 Primary myelofibrosis HP:0030057 ORPHA:824 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000077 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000238 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000256 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000365 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000520 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000774 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000926 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000944 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0000956 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001156 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001250 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001252 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001360 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001376 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001561 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001582 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001631 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0001643 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002007 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002084 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002093 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002119 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002269 ORPHA:93274 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002652 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002676 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002808 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0002983 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0004322 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0005280 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0005692 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0006703 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0010306 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0010880 ORPHA:93274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0012368 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93274 Thanatophoric dysplasia type 2 HP:0100543 ORPHA:93274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0000112 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0000708 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0000726 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0000822 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0000965 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0001123 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0001250 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0001268 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0001269 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0001270 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0001324 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0001337 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0001727 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0002072 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0002076 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0002170 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0002321 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0002354 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0002376 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0002381 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0003613 ORPHA:820 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0011276 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0100545 ORPHA:820 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:820 Sneddon syndrome HP:0100576 ORPHA:820 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001269 ORPHA:444463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001744 ORPHA:444463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001878 ORPHA:444463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0002960 ORPHA:444463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001890 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001973 ORPHA:444463 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0000403 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001297 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001888 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0002716 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0002725 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0011343 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0011947 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0012115 ORPHA:444463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98962 Granular corneal dystrophy type I HP:0000531 ORPHA:98962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98962 Granular corneal dystrophy type I HP:0007881 ORPHA:98962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98962 Granular corneal dystrophy type I HP:0000495 ORPHA:98962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98962 Granular corneal dystrophy type I HP:0000505 ORPHA:98962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98962 Granular corneal dystrophy type I HP:0011493 ORPHA:98962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98962 Granular corneal dystrophy type I HP:0000613 ORPHA:98962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98962 Granular corneal dystrophy type I HP:0007663 ORPHA:98962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98962 Granular corneal dystrophy type I HP:0008039 ORPHA:98962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98962 Granular corneal dystrophy type I HP:0011495 ORPHA:98962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98962 Granular corneal dystrophy type I HP:0200026 ORPHA:98962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0005502 ORPHA:822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0000952 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0000980 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001081 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001324 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001744 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001903 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001923 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0002240 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0002904 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0004444 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0005525 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0011900 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0025548 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0100724 ORPHA:822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001251 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001945 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001978 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0002027 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0003326 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001723 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0025143 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0040186 ORPHA:822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001510 ORPHA:822 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0001997 ORPHA:822 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0003270 ORPHA:822 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:822 Hereditary spherocytosis HP:0200042 ORPHA:822 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98963 Granular corneal dystrophy type II HP:0000531 ORPHA:98963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98963 Granular corneal dystrophy type II HP:0007802 ORPHA:98963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98963 Granular corneal dystrophy type II HP:0011493 ORPHA:98963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98963 Granular corneal dystrophy type II HP:0000505 ORPHA:98963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98963 Granular corneal dystrophy type II HP:0007663 ORPHA:98963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98963 Granular corneal dystrophy type II HP:0007759 ORPHA:98963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98963 Granular corneal dystrophy type II HP:0008039 ORPHA:98963 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98963 Granular corneal dystrophy type II HP:0000495 ORPHA:98963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98963 Granular corneal dystrophy type II HP:0000622 ORPHA:98963 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0000481 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0000559 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0000572 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0001149 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0007957 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0011493 ORPHA:98964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0000483 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0000495 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0000613 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0008039 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0012040 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0025337 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0200026 ORPHA:98964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0007924 ORPHA:98964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0008511 ORPHA:98964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0011003 ORPHA:98964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98964 Lattice corneal dystrophy type I HP:0012155 ORPHA:98964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000098 ORPHA:821 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000280 ORPHA:821 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0012771 ORPHA:821 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000268 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000275 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000276 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000365 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000389 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000483 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000494 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000708 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001250 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001252 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001256 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001263 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001388 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002019 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002650 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0004768 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0005616 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0006579 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0011220 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0011968 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0031284 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0040194 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0400000 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0410263 ORPHA:821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000076 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000077 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000083 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000164 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000256 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000718 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000729 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000739 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001176 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001320 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001337 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001371 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001627 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001629 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001631 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001643 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001763 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002020 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002059 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002069 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002119 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002121 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002123 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002280 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002342 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002370 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002384 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002389 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002442 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002808 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0004942 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0007370 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0010741 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0010864 ORPHA:821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000023 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000028 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000034 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000047 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000073 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000074 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000104 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000126 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000144 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000405 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000486 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000518 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000540 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000545 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000639 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000668 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000696 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000767 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000821 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0000953 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001010 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001028 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001363 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001537 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001741 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001762 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001792 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0001998 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002251 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0002664 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0003006 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0003072 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0003273 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0003468 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0004691 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0005617 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0006466 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0006721 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0007018 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0008498 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0009592 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0009797 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0010957 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0030357 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0030736 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:821 Sotos syndrome HP:0032447 ORPHA:821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000028 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000122 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000158 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000218 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000238 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000252 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000256 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000280 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000286 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000303 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000316 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000319 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000322 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000325 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000337 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000343 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000347 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000369 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000411 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000414 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000445 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000457 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000465 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000486 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000490 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000494 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000582 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000588 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000960 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001182 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001249 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001250 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001252 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001260 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001263 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001618 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001629 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001643 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001704 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001770 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001800 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0001836 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0002007 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0002023 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0002162 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0002463 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0002650 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0004422 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0005180 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0007018 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0009738 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0009795 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0011039 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0012471 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0100022 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0100490 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0100540 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0007881 ORPHA:98960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0007924 ORPHA:98960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0008039 ORPHA:98960 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0000495 ORPHA:98960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0000613 ORPHA:98960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0007759 ORPHA:98960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0032148 ORPHA:98960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0200026 ORPHA:98960 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98960 Thiel-Behnke corneal dystrophy HP:0000483 ORPHA:98960 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000028 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000062 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000089 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000107 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000126 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000204 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000256 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000286 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000343 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000347 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000445 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000518 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000773 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000774 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000944 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001162 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001177 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001274 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001305 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001321 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001539 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001773 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0001789 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002006 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002007 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002023 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002032 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002089 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002093 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002119 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0030680 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002612 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0002983 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0003270 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0003762 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0004279 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0004397 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0004599 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0005280 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0005716 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0008716 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0008736 ORPHA:93271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0008873 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0009106 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0010297 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0010306 ORPHA:93271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type HP:0010564 ORPHA:93271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0000028 ORPHA:1074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0000175 ORPHA:1074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0009755 ORPHA:1074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0009804 ORPHA:1074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0100335 ORPHA:1074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0000175 ORPHA:1072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0009755 ORPHA:1072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0009775 ORPHA:1072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0100267 ORPHA:1072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0100335 ORPHA:1072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000175 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000176 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000347 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000405 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000411 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000431 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0045075 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000653 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000668 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000682 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000684 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000687 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000698 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000966 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000982 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0008070 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001092 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001608 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001629 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001795 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001810 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0001812 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0002208 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0002558 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0004209 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0006101 ORPHA:1071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0007440 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0008391 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0009755 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0011819 ORPHA:1071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0100335 ORPHA:1071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000010 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000023 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000160 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000175 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000219 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000252 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000272 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000276 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000307 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000319 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000324 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000363 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000407 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000426 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000430 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000453 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000490 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000581 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000657 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000716 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000722 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001166 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001249 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001250 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001263 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001510 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001511 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001622 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001629 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001631 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001659 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001660 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001763 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001770 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001802 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001817 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0001852 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002021 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002205 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002463 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002553 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002607 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002664 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002673 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002705 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0002721 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0003307 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0004209 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0004279 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0004322 ORPHA:261330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0004942 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0005692 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0006487 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0007018 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0009465 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0009795 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0009882 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0010296 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0100033 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0100490 ORPHA:261330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0005916 ORPHA:1078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0001172 ORPHA:1078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0001249 ORPHA:1078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0001387 ORPHA:1078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0001513 ORPHA:1078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0009370 ORPHA:1078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0000252 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0000488 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0000545 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0000608 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0000613 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0000682 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0000958 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0000962 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0001025 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0001249 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0001250 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0001252 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0001257 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0001260 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0001264 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0001387 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0002167 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0002650 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0002652 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0002808 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0004322 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0007256 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0007440 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0007703 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0008064 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0010783 ORPHA:816 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0100533 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:816 Sjögren-Larsson syndrome HP:0200020 ORPHA:816 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1077 Dental ankylosis HP:0000303 ORPHA:1077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1077 Dental ankylosis HP:0000682 ORPHA:1077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1077 Dental ankylosis HP:0004209 ORPHA:1077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1077 Dental ankylosis HP:0009804 ORPHA:1077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000069 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000175 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000194 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000204 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000248 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000252 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000303 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000316 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000322 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000337 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000347 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000389 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000405 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000431 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000463 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000482 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000486 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000490 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000541 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000545 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000582 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000664 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000679 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000680 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000733 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000739 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000750 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000821 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000823 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0000826 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001156 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001161 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001249 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001250 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001252 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001263 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001265 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001288 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001387 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001513 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001531 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001558 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001609 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001763 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0001770 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0002007 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0002019 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0002020 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0002119 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0002155 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0002167 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0002353 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0002360 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0030680 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0002650 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0003124 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0003196 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0003312 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0004209 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0004322 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0005280 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0005607 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0007016 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0007018 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0007328 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0007370 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0008678 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0008872 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0009830 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0010780 ORPHA:819 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0010804 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0011800 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0100542 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0100716 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:819 Smith-Magenis syndrome HP:0100729 ORPHA:819 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0002149 ORPHA:411536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0003149 ORPHA:411536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0003240 ORPHA:411536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0003149 ORPHA:411536 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0000791 ORPHA:411536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0001369 ORPHA:411536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0020074 ORPHA:411536 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0000083 ORPHA:411536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0001919 ORPHA:411536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0012626 ORPHA:411536 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0000707 ORPHA:411536 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0000407 ORPHA:411536 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0000478 ORPHA:411536 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0001249 ORPHA:411536 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0001999 ORPHA:411536 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity HP:0009830 ORPHA:411536 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000003 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000028 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000047 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008665 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000062 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000074 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000126 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000154 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000171 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000175 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000212 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000252 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000286 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000316 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000343 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000347 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000368 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000407 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000431 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000453 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000463 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000470 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000486 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000494 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000499 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000501 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000508 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000518 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000520 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000582 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000612 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000639 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000647 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000648 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000682 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000717 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000772 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000776 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000965 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000992 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000996 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001156 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001162 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0005916 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001171 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001249 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001250 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001252 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001262 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001263 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001276 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001360 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001510 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001511 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001543 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001561 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001600 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001629 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001631 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001643 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001830 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0001884 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002020 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002021 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002089 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002101 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002119 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002251 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002360 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0030680 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002650 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002719 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002777 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002808 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0002827 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0003027 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0003312 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0004322 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0004422 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0004691 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0005264 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0005599 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006101 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006288 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006482 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006501 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006610 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0006695 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0007018 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0007360 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0007370 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0007477 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008056 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008678 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008736 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008872 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0008905 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0009465 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0009623 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0009804 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0010297 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0010569 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0010880 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0011069 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0100542 ORPHA:818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0100716 ORPHA:818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000325 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000369 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000592 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0001511 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0004322 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0004326 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0004482 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0008897 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0011220 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0011968 ORPHA:813 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000028 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000032 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000233 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000270 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000347 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000368 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000678 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000855 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0001270 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0001531 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0001620 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0001622 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0001988 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0002019 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0002020 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0002360 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0002714 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0002750 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0002829 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0003199 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0004209 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0008364 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0008734 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0010782 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0011844 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0012412 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0100555 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0100559 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0100560 ORPHA:813 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000047 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000079 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000142 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000729 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000826 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000957 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0000975 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0001256 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0001513 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0001626 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0001852 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0002650 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0005484 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:813 Silver-Russell syndrome HP:0008935 ORPHA:813 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000179 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000280 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000407 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000431 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000488 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000505 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000518 ORPHA:812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000529 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000639 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000762 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000768 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000943 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0000962 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0001249 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0001250 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0001251 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0001252 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0001288 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0001324 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0001336 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0001337 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0001350 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0001744 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0002007 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0002167 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0002353 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0002650 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0002652 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0002750 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0002808 ORPHA:812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0003202 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0003312 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0003355 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0003461 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0004322 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0007957 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0010306 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0010729 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0011276 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0012061 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0100022 ORPHA:812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:812 Sialidosis type 1 HP:0100790 ORPHA:812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0000473 ORPHA:420485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0000643 ORPHA:420485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0002451 ORPHA:420485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0007351 ORPHA:420485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0012477 ORPHA:420485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0001336 ORPHA:420485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0001600 ORPHA:420485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0002378 ORPHA:420485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0012048 ORPHA:420485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000062 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000239 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000316 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000322 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000347 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000369 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000431 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000470 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000518 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000568 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000772 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000774 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000889 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000926 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0000944 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0001274 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0001539 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0001629 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0002007 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0002676 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0002691 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0002714 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0004331 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0005930 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0006487 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0008905 ORPHA:93267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome HP:0009623 ORPHA:93267 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000924 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001738 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001871 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001875 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001903 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002630 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0011024 ORPHA:811 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000708 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001508 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001510 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001873 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001897 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001972 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002570 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002594 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002750 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002863 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0004322 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0004395 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0004905 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0005518 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0011892 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0012202 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0040238 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0100512 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0100513 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0410252 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0410255 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0410289 ORPHA:811 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000246 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000670 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000729 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000736 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000886 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000938 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000988 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001249 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001367 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001627 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001876 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001882 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001909 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001915 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002090 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002718 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002953 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0003016 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0003025 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0004429 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0004808 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0005528 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0005871 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0045027 ORPHA:811 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000155 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000356 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000365 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000684 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000819 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000824 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0000964 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0001167 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002240 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002721 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002754 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0002910 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0006461 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0008064 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0040075 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:811 Shwachman-Diamond syndrome HP:0100806 ORPHA:811 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001945 ORPHA:810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0002027 ORPHA:810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0025086 ORPHA:810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0032155 ORPHA:810 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001944 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001974 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0002013 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0002018 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0002039 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0003111 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0012378 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0012702 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0025406 ORPHA:810 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001531 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001943 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0002373 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0002590 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0002721 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0002902 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0025085 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0025615 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0031274 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0100279 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0100282 ORPHA:810 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0000509 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0000554 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0000979 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001025 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001369 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001396 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001399 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001873 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001919 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0001937 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0002090 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0002586 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0003201 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0005575 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0009830 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0012804 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0012819 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0025059 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0031368 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0031864 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0100806 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:810 Shigellosis HP:0500006 ORPHA:810 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:851 Paris-Trousseau thrombocytopenia HP:0001249 ORPHA:851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:851 Paris-Trousseau thrombocytopenia HP:0001626 ORPHA:851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0000028 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0000046 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0000062 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0000602 ORPHA:168593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001265 ORPHA:168593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001336 ORPHA:168593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001510 ORPHA:168593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001522 ORPHA:168593 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001608 ORPHA:168593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0001695 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0002020 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0002045 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0012332 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0002793 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0008736 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0010535 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome HP:0011675 ORPHA:168593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030057 ORPHA:562639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0032220 ORPHA:562639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0000989 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0002910 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0003237 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0003493 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0011040 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0012378 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0100889 ORPHA:562639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0001394 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0001396 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0002037 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0002611 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0002829 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0002904 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0003155 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0003262 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0003496 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0025344 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030167 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030909 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030948 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030988 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030991 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0032252 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0100279 ORPHA:562639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030908 ORPHA:562639 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000174 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000238 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000248 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000262 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000272 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000316 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000327 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000348 ORPHA:93262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000405 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000444 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000453 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000486 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000505 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000508 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000520 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000648 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0000956 ORPHA:93262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0001156 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0005916 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0002007 ORPHA:93262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0002076 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0002093 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0002308 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0002516 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0003312 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0005107 ORPHA:93262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0007360 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome HP:0100533 ORPHA:93262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000076 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000085 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000126 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000175 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000218 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000244 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000316 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000348 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000365 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000369 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000402 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000453 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000520 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0000646 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0001249 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0001250 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0001376 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0001601 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0001770 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0001773 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0002023 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0002098 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0002308 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0002410 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0002516 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0002566 ORPHA:93260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0002779 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0003196 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0005280 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0006101 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0008080 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0010059 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0010109 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0011304 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0011800 ORPHA:93260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93260 Pfeiffer syndrome type 3 HP:0200055 ORPHA:93260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001873 ORPHA:261323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000252 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000280 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000414 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000708 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001156 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001249 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001250 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001344 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001531 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001792 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001999 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0004322 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0006979 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0008872 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0008897 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0011344 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0012385 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0030084 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000179 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000219 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000311 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000316 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000319 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000369 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000403 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000463 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000486 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000494 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000678 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000752 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000958 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000960 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001106 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001274 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001631 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0001903 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0002307 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0002465 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0002557 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0002714 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0002750 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0003086 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0003763 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0007874 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0008404 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0008551 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0008947 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0009226 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0009597 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0010230 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0011800 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0012172 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0012471 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0012745 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0030215 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0030799 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0100703 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0100716 ORPHA:261323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001290 ORPHA:2394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0002013 ORPHA:2394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0002151 ORPHA:2394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0003128 ORPHA:2394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0012758 ORPHA:2394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001250 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001254 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001257 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001943 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0002240 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0002480 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0002910 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0008344 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0011968 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0012402 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0100724 ORPHA:2394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0000252 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0000708 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001251 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001399 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001508 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001638 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0001987 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0003234 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0003394 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0007663 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0010913 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0030872 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0000975 ORPHA:1063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0001903 ORPHA:1063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0011355 ORPHA:1063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0000329 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0000565 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0000967 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0000979 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0000998 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0001873 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0003401 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0005548 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0008069 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0010990 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0011900 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0012531 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1063 Tufted angioma HP:0031490 ORPHA:1063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1062 Hereditary neurocutaneous malformation HP:0000707 ORPHA:1062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1062 Hereditary neurocutaneous malformation HP:0001028 ORPHA:1062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1062 Hereditary neurocutaneous malformation HP:0001250 ORPHA:1062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1062 Hereditary neurocutaneous malformation HP:0002277 ORPHA:1062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1069 Aniridia-absent patella syndrome HP:0000023 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1069 Aniridia-absent patella syndrome HP:0000028 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1069 Aniridia-absent patella syndrome HP:0000501 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1069 Aniridia-absent patella syndrome HP:0000508 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1069 Aniridia-absent patella syndrome HP:0000518 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1069 Aniridia-absent patella syndrome HP:0000526 ORPHA:1069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1069 Aniridia-absent patella syndrome HP:0001252 ORPHA:1069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1069 Aniridia-absent patella syndrome HP:0006498 ORPHA:1069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1068 Aniridia-intellectual disability syndrome HP:0000518 ORPHA:1068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1068 Aniridia-intellectual disability syndrome HP:0000526 ORPHA:1068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1068 Aniridia-intellectual disability syndrome HP:0000609 ORPHA:1068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1068 Aniridia-intellectual disability syndrome HP:0001083 ORPHA:1068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1068 Aniridia-intellectual disability syndrome HP:0002342 ORPHA:1068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000506 ORPHA:2399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000589 ORPHA:2399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0001012 ORPHA:2399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000252 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000268 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000316 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000327 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000337 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000349 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000369 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000437 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000445 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000499 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000518 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000568 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000577 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0002788 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0007820 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0007957 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0008850 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0009926 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0030670 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0030953 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0031111 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0040164 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0045075 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000378 ORPHA:2399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0004209 ORPHA:2399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0007633 ORPHA:2399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:3000022 ORPHA:2399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0002011 ORPHA:2399 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2398 Multiple symmetric lipomatosis HP:0000855 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2398 Multiple symmetric lipomatosis HP:0001012 ORPHA:2398 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2398 Multiple symmetric lipomatosis HP:0001288 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2398 Multiple symmetric lipomatosis HP:0001315 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2398 Multiple symmetric lipomatosis HP:0001387 ORPHA:2398 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2398 Multiple symmetric lipomatosis HP:0002240 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2398 Multiple symmetric lipomatosis HP:0002829 ORPHA:2398 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2398 Multiple symmetric lipomatosis HP:0003401 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2398 Multiple symmetric lipomatosis HP:0009124 ORPHA:2398 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2398 Multiple symmetric lipomatosis HP:0009830 ORPHA:2398 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0000505 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0000508 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0000518 ORPHA:1067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0000545 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0001249 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0001596 ORPHA:1067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0001627 ORPHA:1067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0005599 ORPHA:1067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0007957 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0008053 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0009917 ORPHA:1067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000028 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000083 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000122 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000135 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000717 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000962 ORPHA:281090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0000966 ORPHA:281090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0001249 ORPHA:281090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0001250 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0001263 ORPHA:281090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0001339 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0002381 ORPHA:281090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0002488 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0002577 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0004298 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0004322 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0007018 ORPHA:281090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0007957 ORPHA:281090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0008064 ORPHA:281090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0010866 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281090 Syndromic recessive X-linked ichthyosis HP:0100617 ORPHA:281090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0003010 ORPHA:849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0004406 ORPHA:849 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0000225 ORPHA:849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0000978 ORPHA:849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0004846 ORPHA:849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0030137 ORPHA:849 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0000132 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0000979 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0002239 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0007420 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0012587 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0031364 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0400008 ORPHA:849 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0011871 ORPHA:849 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0004866 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0008148 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0011870 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0011872 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0011894 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:849 Glanzmann thrombasthenia HP:0031128 ORPHA:849 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0000298 ORPHA:1065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0000364 ORPHA:1065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0000526 ORPHA:1065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0001249 ORPHA:1065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0001251 ORPHA:1065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0001252 ORPHA:1065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0001263 ORPHA:1065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0002167 ORPHA:1065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0002168 ORPHA:1065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0004414 ORPHA:1065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0100022 ORPHA:1065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000488 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000991 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001012 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001249 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001250 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001263 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001482 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001596 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0009125 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0012759 ORPHA:2396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000256 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000271 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000492 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000499 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000612 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000614 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000708 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000929 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001052 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001257 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001274 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001276 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001331 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001704 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002059 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002063 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002092 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002119 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002120 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002167 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002300 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002381 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002381 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002514 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002797 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0003552 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0004493 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0005306 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0007957 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0010529 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0010622 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0012062 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0012157 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0100761 ORPHA:2396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0000943 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001269 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001650 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001679 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0001680 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002301 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002445 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002652 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0002763 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0003470 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0011611 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2396 Encephalocraniocutaneous lipomatosis HP:0040188 ORPHA:2396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000122 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000347 ORPHA:1064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000463 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000486 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000506 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0001087 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0001252 ORPHA:1064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0001334 ORPHA:1064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0001363 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0002007 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0002714 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0004322 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0005280 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0007957 ORPHA:1064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0011342 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000526 ORPHA:1064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0000952 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0001081 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0001744 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0001789 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0001878 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0001903 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0001935 ORPHA:846 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0001971 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0002863 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0010978 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0011902 ORPHA:846 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:846 Alpha-thalassemia HP:0100543 ORPHA:846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0001324 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0002191 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0003202 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0003495 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0010969 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0012379 ORPHA:845 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0000505 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0000708 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0000736 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0001260 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0001288 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0001347 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs disease HP:0002015 ORPHA:845 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:845 Tay-Sachs 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ORPHA:orphadata[2023-06-17] +ORPHA:848 Beta-thalassemia HP:0004936 ORPHA:848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:848 Beta-thalassemia HP:0012115 ORPHA:848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:848 Beta-thalassemia HP:0200042 ORPHA:848 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000010 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000028 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000037 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000062 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000077 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] 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Alpha-thalassemia-X-linked intellectual disability syndrome HP:0001903 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002017 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002019 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002020 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002120 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002251 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0002381 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual 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TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0010806 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0011328 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0011800 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0011902 ORPHA:847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0012368 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0012736 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0100022 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0100716 ORPHA:847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0000218 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0000248 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0000316 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0000348 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0000365 ORPHA:93258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0000369 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0000520 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0001770 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0001773 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0002410 ORPHA:93258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0003196 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0004279 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0005280 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0006101 ORPHA:93258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0008080 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0009601 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0010059 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0010109 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0011304 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0011318 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93258 Pfeiffer syndrome type 1 HP:0011800 ORPHA:93258 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:841 Sebocystomatosis HP:0000787 ORPHA:841 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:841 Sebocystomatosis HP:0009720 ORPHA:841 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:841 Sebocystomatosis HP:0012035 ORPHA:841 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000175 ORPHA:93259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000218 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000238 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000272 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000316 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000348 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000369 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000413 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000453 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000520 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0000572 ORPHA:93259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0001249 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0001250 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0001263 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0001376 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0001601 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0001770 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0001773 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0002023 ORPHA:93259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0002098 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0002308 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0002410 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0002516 ORPHA:93259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0002566 ORPHA:93259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0002676 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0002779 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0003196 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0005280 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0006101 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0008080 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0009603 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0010059 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0010109 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0011304 ORPHA:93259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93259 Pfeiffer syndrome type 2 HP:0200055 ORPHA:93259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000023 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000028 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000047 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000053 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000069 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000077 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000126 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000164 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000174 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000232 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000233 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000248 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000268 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000286 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000293 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000294 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000311 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000316 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000319 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000322 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000347 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000368 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000400 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000411 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000463 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000470 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000486 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000494 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000574 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000581 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000582 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000691 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0000926 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0001156 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0001177 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0001252 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0001288 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0001357 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0001537 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0001760 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0001883 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0001999 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002007 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002162 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002167 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002208 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0012332 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002311 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002414 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002553 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0030680 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002650 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002714 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002808 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0002916 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0003196 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0003272 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0003312 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0003422 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0004349 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0004397 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0005562 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0005692 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0006101 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0006610 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0009738 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0100490 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0100542 ORPHA:261318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0100543 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0100790 ORPHA:261318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261318 Trisomy 20p HP:0100874 ORPHA:261318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000716 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000722 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000726 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000739 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000802 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000821 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0000822 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001251 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001260 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001265 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001288 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001300 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001310 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0001324 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002015 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002063 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002066 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002067 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002080 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002120 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002354 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002363 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0012332 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002607 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002615 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0002839 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0003326 ORPHA:93256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0009830 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0012534 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0030216 ORPHA:93256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0100275 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93256 Fragile X-associated tremor/ataxia syndrome HP:0100515 ORPHA:93256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:840 Syringocystadenoma papilliferum HP:0001482 ORPHA:840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:840 Syringocystadenoma papilliferum HP:0002209 ORPHA:840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:840 Syringocystadenoma papilliferum HP:0008066 ORPHA:840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:840 Syringocystadenoma papilliferum HP:0010815 ORPHA:840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:840 Syringocystadenoma papilliferum HP:0200034 ORPHA:840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000750 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001249 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001252 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001510 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001518 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0002813 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0012520 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0012758 ORPHA:261311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000368 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000494 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000582 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001250 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001531 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0006385 ORPHA:261311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000047 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000233 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000286 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000297 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000316 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000319 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000325 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000341 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000414 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000460 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000520 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000729 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0000960 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001182 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001562 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001631 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001713 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001762 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001763 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0001822 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0002079 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0002188 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0002553 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0002573 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0002827 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0006709 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0009899 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0012304 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261311 20q13.33 microdeletion syndrome HP:0012858 ORPHA:261311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0010785 ORPHA:180229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0030061 ORPHA:180229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0030338 ORPHA:180229 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0002027 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0002585 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0005107 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0006254 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0012288 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0031500 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0040231 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0045026 ORPHA:180229 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0000053 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0000818 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0000858 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0001945 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0003144 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0003270 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0008236 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:180229 Polyembryoma HP:0030088 ORPHA:180229 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000003 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000062 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000175 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000252 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000286 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000325 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000340 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000347 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000348 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000365 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000368 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000445 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000457 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000478 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000494 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000501 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000504 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000518 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000568 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000821 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000924 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000929 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001000 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001249 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001250 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001252 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001263 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001305 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001360 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001510 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001511 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001541 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001561 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001631 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001659 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001679 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001680 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0001682 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002007 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002101 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002104 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002119 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002247 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0030680 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002664 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002667 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002797 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002817 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002859 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0002863 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0003003 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0003560 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0004209 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0004322 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0006721 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0007360 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0007370 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0007565 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0007957 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0010880 ORPHA:1052 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0010978 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0012126 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0100650 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0200008 ORPHA:1052 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0001249 ORPHA:2382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0001298 ORPHA:2382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0011195 ORPHA:2382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0000708 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0000718 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0000729 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0000752 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0001268 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0001336 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0002069 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0002353 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0002363 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0002527 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0007270 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0010818 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0010819 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0012075 ORPHA:2382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0002123 ORPHA:2382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2382 Lennox-Gastaut syndrome HP:0007359 ORPHA:2382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000309 ORPHA:1051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0012155 ORPHA:1051 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000283 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000316 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000491 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000579 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000582 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0001249 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0001525 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0001643 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0002007 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0002194 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0002251 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0003510 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0004325 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0005280 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0007663 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0007980 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0008619 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0011120 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0011220 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0012332 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0030491 ORPHA:1051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000160 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000217 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000343 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000452 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000463 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000533 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000620 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000670 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0000742 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0001631 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0002098 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0002209 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0004411 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0006979 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0008872 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0009890 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0010298 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0010782 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0011451 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0012450 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0012537 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0012804 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1051 Ramos-Arroyo syndrome HP:0045025 ORPHA:1051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2380 Legg-Calvé-Perthes disease HP:0000164 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2380 Legg-Calvé-Perthes disease HP:0001373 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2380 Legg-Calvé-Perthes disease HP:0002750 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2380 Legg-Calvé-Perthes disease HP:0002829 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2380 Legg-Calvé-Perthes disease HP:0003202 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2380 Legg-Calvé-Perthes disease HP:0004322 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2380 Legg-Calvé-Perthes disease HP:0010885 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2380 Legg-Calvé-Perthes disease HP:0100773 ORPHA:2380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0000988 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0001048 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0001482 ORPHA:1059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0001928 ORPHA:1059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0001935 ORPHA:1059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0002580 ORPHA:1059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0002584 ORPHA:1059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0002597 ORPHA:1059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0002653 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0003010 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0005244 ORPHA:1059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0100026 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1059 Blue rubber bleb nevus HP:0100761 ORPHA:1059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002072 ORPHA:2388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0004305 ORPHA:2388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000708 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001250 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001300 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001315 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001927 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002275 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002340 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002451 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002460 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002495 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002527 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0003198 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0003236 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0003438 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0003445 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0003477 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0003693 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0006956 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0007078 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0012049 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0025402 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0030272 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0100034 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0100035 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0100295 ORPHA:2388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000496 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000514 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000643 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000712 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000716 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000718 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000722 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000736 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000737 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000739 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000741 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0000752 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001260 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001268 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001276 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001350 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001369 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001744 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001824 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002015 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002067 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002069 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002120 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002240 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002322 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002487 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002505 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002599 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0003380 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0003763 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0004302 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0006913 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0008110 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0008767 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0009049 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0010808 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0011999 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0012048 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0012167 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0012168 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0012479 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0012697 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0025100 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0025331 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0025479 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0025517 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0030220 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0031008 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0031843 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0031908 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0031982 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0100716 ORPHA:2388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0001644 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0002360 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0012332 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0012675 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0025435 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0031956 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2388 Choreoacanthocytosis HP:0031964 ORPHA:2388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2387 Leukonychia totalis HP:0000498 ORPHA:2387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2387 Leukonychia totalis HP:0000499 ORPHA:2387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2387 Leukonychia totalis HP:0000613 ORPHA:2387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2387 Leukonychia totalis HP:0000787 ORPHA:2387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2387 Leukonychia totalis HP:0001231 ORPHA:2387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2387 Leukonychia totalis HP:0005978 ORPHA:2387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2387 Leukonychia totalis HP:0008388 ORPHA:2387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2387 Leukonychia totalis HP:0009720 ORPHA:2387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:839 Congenital nephrotic syndrome, Finnish type HP:0000091 ORPHA:839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:839 Congenital nephrotic syndrome, Finnish type HP:0000093 ORPHA:839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:839 Congenital nephrotic syndrome, Finnish type HP:0000100 ORPHA:839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:839 Congenital nephrotic syndrome, Finnish type HP:0000696 ORPHA:839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:839 Congenital nephrotic syndrome, Finnish type HP:0004639 ORPHA:839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1055 Congenital left ventricular aneurysm HP:0001711 ORPHA:1055 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1055 Congenital left ventricular aneurysm HP:0001635 ORPHA:1055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1055 Congenital left ventricular aneurysm HP:0002104 ORPHA:1055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1055 Congenital left ventricular aneurysm HP:0005135 ORPHA:1055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1055 Congenital left ventricular aneurysm HP:0011675 ORPHA:1055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1055 Congenital left ventricular aneurysm HP:0012249 ORPHA:1055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0000972 ORPHA:2386 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0001276 ORPHA:2386 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0002317 ORPHA:2386 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0100543 ORPHA:2386 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0000726 ORPHA:2386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0002200 ORPHA:2386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0002273 ORPHA:2386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0010845 ORPHA:2386 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0001324 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0001350 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0002312 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0030051 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0100252 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0200034 ORPHA:2386 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0002079 ORPHA:2386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0003380 ORPHA:2386 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0002315 ORPHA:838 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0000407 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0000572 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0001273 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0001289 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0001290 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0100543 ORPHA:838 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0000360 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0000496 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0000651 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0000708 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0000709 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0000741 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0000751 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0001254 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0001260 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0001324 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0002017 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0002066 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0002321 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0002493 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0003474 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:838 Susac syndrome HP:0100851 ORPHA:838 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0011645 ORPHA:1054 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0001659 ORPHA:1054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0002094 ORPHA:1054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0030148 ORPHA:1054 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0000969 ORPHA:1054 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0001635 ORPHA:1054 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0012735 ORPHA:1054 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0001297 ORPHA:1054 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0006689 ORPHA:1054 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0100520 ORPHA:1054 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1054 Aneurysm of sinus of Valsalva HP:0100749 ORPHA:1054 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1053 Vein of Galen aneurysmal malformation HP:0002617 ORPHA:1053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1053 Vein of Galen aneurysmal malformation HP:0100659 ORPHA:1053 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1053 Vein of Galen aneurysmal malformation HP:0100784 ORPHA:1053 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0003005 ORPHA:251992 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0000834 ORPHA:251992 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0005220 ORPHA:251992 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0045026 ORPHA:251992 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0200063 ORPHA:251992 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0000822 ORPHA:251992 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0002574 ORPHA:251992 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0004390 ORPHA:251992 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0005249 ORPHA:251992 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0100631 ORPHA:251992 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0000315 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0002034 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0002239 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0003330 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0007110 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251992 Ganglioneuroma HP:0008775 ORPHA:251992 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0000093 ORPHA:834 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0000100 ORPHA:834 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0000639 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0000657 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001000 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001249 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001250 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001251 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001252 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001257 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001260 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001263 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001288 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001531 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001541 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001744 ORPHA:834 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001760 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001789 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0001999 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0002167 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0002205 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0002240 ORPHA:834 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0002305 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0002652 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0002817 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0004349 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0007256 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0007730 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0010318 ORPHA:834 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:834 Free sialic acid storage disease HP:0200042 ORPHA:834 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0000716 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0000739 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0000741 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0001300 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002019 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002063 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002067 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002172 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002310 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002322 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002359 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0012332 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002494 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002530 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0004926 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0005341 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0007256 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0008652 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0010307 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0010536 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0012658 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0012670 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0030015 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0030880 ORPHA:98933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0000640 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0001260 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002066 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002073 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0002174 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98933 Multiple system atrophy, parkinsonian type HP:0100595 ORPHA:98933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0000751 ORPHA:98934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0100022 ORPHA:98934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0000708 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0000726 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0001288 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0001300 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0001332 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0001347 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0001824 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0002060 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0002072 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0002120 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0002340 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0002354 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0002476 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0004302 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0004305 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98934 Huntington disease-like 2 HP:0010994 ORPHA:98934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000252 ORPHA:833 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000293 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000343 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000490 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000545 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0001083 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0001250 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0001251 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0001257 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0001285 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0002017 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0002376 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0002793 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0003196 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0003355 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0004374 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0008872 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0010864 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0011220 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0012471 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0100022 ORPHA:833 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000233 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000252 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000316 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000322 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000347 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000348 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000400 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000414 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000431 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000490 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000963 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001010 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001252 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001256 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001508 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001511 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0001562 ORPHA:261304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0002098 ORPHA:261304 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0008070 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0010781 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0011343 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0011968 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0100578 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0100840 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0002355 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0002460 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0002515 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0003391 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0003701 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0005853 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0008944 ORPHA:363454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001265 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001270 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001347 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001371 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001385 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0001558 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0003307 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0005109 ORPHA:363454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0003547 ORPHA:363454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0030237 ORPHA:363454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0000464 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0001518 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0001541 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0001790 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0005268 ORPHA:1041 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0030005 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0032548 ORPHA:1041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0000077 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0001004 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0001561 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0001698 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0001871 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0002202 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0007430 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0030680 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0032169 ORPHA:1041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0000079 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0001627 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0002652 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0002664 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0011024 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0011675 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0031110 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1041 Hydrops fetalis HP:0100763 ORPHA:1041 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1040 Metaphyseal anadysplasia HP:0000944 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1040 Metaphyseal anadysplasia HP:0001387 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1040 Metaphyseal anadysplasia HP:0002814 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1040 Metaphyseal anadysplasia HP:0040071 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1040 Metaphyseal anadysplasia HP:0004039 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1040 Metaphyseal anadysplasia HP:0004322 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1040 Metaphyseal anadysplasia HP:0005930 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1040 Metaphyseal anadysplasia HP:0006487 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1040 Metaphyseal anadysplasia HP:0006501 ORPHA:1040 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000160 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000233 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000368 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000486 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000520 ORPHA:2370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0000944 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0001156 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0005916 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0001263 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0001385 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0001511 ORPHA:2370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0001671 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0002644 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0002650 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0002652 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0003196 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0003312 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0004209 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0004322 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0004349 ORPHA:2370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome HP:0007957 ORPHA:2370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0000256 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0000486 ORPHA:2379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0001249 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0001250 ORPHA:2379 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0002007 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0002063 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0002167 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0002396 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome HP:0100022 ORPHA:2379 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1048 Isolated anencephaly/exencephaly HP:0002323 ORPHA:1048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1048 Isolated anencephaly/exencephaly HP:0008207 ORPHA:1048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0000164 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0000168 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0000272 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0000490 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0000970 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0001058 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0001256 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0002661 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0007021 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0007249 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5 HP:0010829 ORPHA:64752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0000750 ORPHA:163721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0001250 ORPHA:163721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0011098 ORPHA:163721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0001249 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0002307 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0007334 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0011196 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0011198 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0031491 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0007359 ORPHA:163721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0000736 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0001260 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0001328 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0001611 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0002079 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0002546 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0010300 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome HP:0031434 ORPHA:163721 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0000028 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0000238 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0000316 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0000366 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0000430 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0000448 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0000457 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0005916 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0001177 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0001199 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0001249 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0001252 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0001376 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0001770 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0001841 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0001883 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0002000 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0002714 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0003019 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0006101 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0007370 ORPHA:2378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0008368 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0009556 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0009601 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0010503 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0010689 ORPHA:2378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0003974 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2378 Laurin-Sandrow syndrome HP:0100524 ORPHA:2378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001251 ORPHA:64753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001284 ORPHA:64753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0006855 ORPHA:64753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0007141 ORPHA:64753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0000640 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0000657 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001152 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0002141 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0003474 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0006254 ORPHA:64753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0000486 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001266 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001332 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0002015 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0002174 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0002346 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0002839 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0003073 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0003124 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0003236 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0003487 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64753 Spinocerebellar ataxia with axonal neuropathy type 2 HP:0007256 ORPHA:64753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000047 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000069 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000160 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000233 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000252 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000347 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000457 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000929 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001252 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001541 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001561 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001562 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001744 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001852 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001903 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0001928 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0002093 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0006703 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0008678 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0008736 ORPHA:1046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0000028 ORPHA:2377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0000083 ORPHA:2377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0000248 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0000286 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0000368 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0000407 ORPHA:2377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0000486 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0000518 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0000612 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0000639 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0001156 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0001161 ORPHA:2377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0001249 ORPHA:2377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0001251 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0001513 ORPHA:2377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0030680 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0002612 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0004322 ORPHA:2377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0005978 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0006101 ORPHA:2377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0007598 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0008736 ORPHA:2377 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0009896 ORPHA:2377 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2377 Laurence-Moon syndrome HP:0100627 ORPHA:2377 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0010566 ORPHA:64754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0025249 ORPHA:64754 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0000252 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0000518 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0001052 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0001250 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0001595 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0001760 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0001770 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0002414 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0002650 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0003298 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0003468 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0006101 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0008064 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64754 Nevus comedonicus syndrome HP:0100258 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0000045 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0000064 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0000767 ORPHA:64755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0000768 ORPHA:64755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0000902 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0001034 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0002558 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0002650 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0002808 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0002983 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0002992 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0003298 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0003724 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0005815 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0010311 ORPHA:64755 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0010566 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0100559 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0100560 ORPHA:64755 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64755 Becker nevus syndrome HP:0100578 ORPHA:64755 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0001605 ORPHA:2375 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0002110 ORPHA:2375 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0004886 ORPHA:2375 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0000252 ORPHA:2375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0001270 ORPHA:2375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0002342 ORPHA:2375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0012768 ORPHA:2375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2374 Congenital laryngeal web HP:0001601 ORPHA:2374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2374 Congenital laryngeal web HP:0001609 ORPHA:2374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2374 Congenital laryngeal web HP:0001671 ORPHA:2374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2374 Congenital laryngeal web HP:0002098 ORPHA:2374 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2374 Congenital laryngeal web HP:0004322 ORPHA:2374 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2374 Congenital laryngeal web HP:0010307 ORPHA:2374 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2373 Congenital laryngomalacia HP:0000175 ORPHA:2373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2373 Congenital laryngomalacia HP:0001601 ORPHA:2373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2373 Congenital laryngomalacia HP:0001608 ORPHA:2373 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2373 Congenital laryngomalacia HP:0100335 ORPHA:2373 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001265 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001270 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001558 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001776 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0002540 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0002804 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0008935 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0030200 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0430025 ORPHA:319332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000028 ORPHA:319332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0002650 ORPHA:319332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000276 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000343 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000400 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000486 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001181 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001188 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001249 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001518 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0003391 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0005191 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0005280 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0005469 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0008897 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0011471 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0012785 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0031729 ORPHA:319332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0000252 ORPHA:319332 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001561 ORPHA:319332 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0040081 ORPHA:319332 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0001942 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0001944 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0001974 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0002013 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0002018 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0002098 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0002615 ORPHA:31824 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0000083 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0001635 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0001871 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0002014 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0002148 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0002900 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0002901 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0002902 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0002917 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0003111 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0003128 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0004360 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0004372 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0005521 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0006543 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0006846 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0011106 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0011675 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0012819 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0030149 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0100520 ORPHA:31824 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31824 Colchicine poisoning HP:0001596 ORPHA:31824 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000164 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000348 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000490 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000750 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001999 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0003189 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0009765 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0040196 ORPHA:363444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000010 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000119 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000278 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000286 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000319 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000670 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001263 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001627 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0002119 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0006989 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0010864 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0012443 ORPHA:363444 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000047 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000054 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000077 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000085 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000122 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000215 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000220 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000307 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000337 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000365 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000689 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001328 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001631 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001643 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0001845 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0002023 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0008209 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0009890 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0010282 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0011623 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0011682 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0012382 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0012385 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0030127 ORPHA:363444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0000666 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0002268 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0002356 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0007104 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0007332 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0011295 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0012012 ORPHA:163727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0001250 ORPHA:163727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0001942 ORPHA:31825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0000505 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0000622 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0000822 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0002170 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0003077 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0030955 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0031982 ORPHA:31825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0000587 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0000618 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0001259 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0001273 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0001289 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0001658 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0002013 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0002014 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0002027 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0002453 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0002500 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0005978 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0007146 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0012128 ORPHA:31825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0001250 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0001342 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0002339 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0004754 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0005291 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0031422 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31825 Methanol poisoning HP:0100651 ORPHA:31825 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001942 ORPHA:31826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0003128 ORPHA:31826 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001251 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001289 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001350 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001649 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002013 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002018 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002329 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002789 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002901 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0031844 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0031962 ORPHA:31826 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0000083 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0000822 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0000961 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001259 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001635 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001657 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002153 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002315 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002615 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002793 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0004885 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0005110 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0005263 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0007695 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0030955 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0031273 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0100598 ORPHA:31826 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0000124 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0000602 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0000639 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0000790 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001250 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001298 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0001336 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002045 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0002181 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0008682 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0010628 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0011037 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0030157 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31826 Ethylene glycol poisoning HP:0031910 ORPHA:31826 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0008131 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0008144 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0008369 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0010741 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0025238 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0030840 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0031051 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0031955 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0100662 ORPHA:563991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0001369 ORPHA:563991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0010885 ORPHA:563991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0010886 ORPHA:563991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563991 Osteochondrosis of the tarsal bone HP:0100323 ORPHA:563991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0010866 ORPHA:2369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0011418 ORPHA:2369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0040064 ORPHA:2369 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0000077 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0000765 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0000776 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0000925 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001196 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001627 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001629 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001631 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001683 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0002011 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0005257 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0006711 ORPHA:2369 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0000175 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0000238 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0000316 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0000431 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0000453 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0000612 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001132 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001195 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001392 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001540 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001776 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0001839 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0002084 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0002143 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0002242 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0002323 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0002414 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0002475 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0002933 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0003298 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0004275 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0005280 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0006368 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0006496 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0007385 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0007957 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0008458 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0009775 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0010055 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0010242 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0010541 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0010554 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0100656 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2369 Limb body wall complex HP:0410030 ORPHA:2369 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2368 Gastroschisis HP:0001543 ORPHA:2368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2368 Gastroschisis HP:0011100 ORPHA:2368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2368 Gastroschisis HP:0100016 ORPHA:2368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000069 ORPHA:1035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000218 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000348 ORPHA:1035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000368 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000444 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000463 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000486 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000494 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0000958 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001166 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001249 ORPHA:1035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001250 ORPHA:1035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001252 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001513 ORPHA:1035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001537 ORPHA:1035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001631 ORPHA:1035 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0001852 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0002007 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0002353 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0002857 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0002983 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0004322 ORPHA:1035 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0005692 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria HP:0100720 ORPHA:1035 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0002151 ORPHA:2364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003236 ORPHA:2364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003542 ORPHA:2364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0002913 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003326 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003394 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003552 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0000972 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0009020 ORPHA:2364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0000083 ORPHA:2364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2364 Glycogen storage disease due to lactate dehydrogenase deficiency HP:0003201 ORPHA:2364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000164 ORPHA:2363 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000217 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000377 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000478 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000670 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000682 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001097 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0009926 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0010286 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0011297 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0011481 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0011482 ORPHA:2363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000369 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000378 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000405 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000407 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000410 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000495 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000508 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000668 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000691 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001092 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001096 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001159 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001172 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001770 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001999 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0002984 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0006101 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0006297 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0007656 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0007892 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0007925 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0009777 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0009778 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0009942 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0011496 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0012155 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0012804 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0030084 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0032107 ORPHA:2363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000028 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000076 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000089 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000126 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000193 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000202 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000347 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000453 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000458 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000577 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0000813 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001250 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001263 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001369 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0001643 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0002015 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0002164 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0002650 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0005349 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0008551 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0011487 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2363 Lacrimoauriculodentodigital syndrome HP:0012108 ORPHA:2363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0000112 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0000121 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0000212 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0000682 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0000684 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0000705 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0006286 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0011073 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0031428 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0100530 ORPHA:1031 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0000083 ORPHA:1031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0000805 ORPHA:1031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0003127 ORPHA:1031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0004727 ORPHA:1031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1031 Enamel-renal syndrome HP:0012365 ORPHA:1031 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0006665 ORPHA:96334 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001263 ORPHA:96334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001561 ORPHA:96334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001999 ORPHA:96334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0006267 ORPHA:96334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011968 ORPHA:96334 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000158 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000278 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000470 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000767 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000924 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001371 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001510 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001540 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001622 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002002 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002751 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002866 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002878 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005257 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005268 ORPHA:96334 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005280 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0008551 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0008897 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0009826 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011335 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011823 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012745 ORPHA:96334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000028 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000160 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000252 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000260 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000286 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000303 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000322 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000327 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000343 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000347 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000358 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000431 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000445 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000463 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000490 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000581 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000773 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000774 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000882 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000884 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000890 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000907 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000919 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000946 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000954 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000973 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001181 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001220 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001250 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001252 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001339 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001357 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001433 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001520 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001538 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001539 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001601 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001615 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001629 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001631 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001639 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001792 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001840 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002007 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002057 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002089 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002091 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002092 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002240 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002307 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002557 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002645 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002650 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002673 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002694 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002884 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002937 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0002982 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0003049 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0003186 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0003241 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0004299 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0004322 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0004415 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005054 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005736 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0005989 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0006591 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0006610 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0007685 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0009600 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0009824 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0009832 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0009836 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0010034 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0010301 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0010561 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0010655 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0010804 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011343 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011344 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011471 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0011824 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012284 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012303 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012385 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012428 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0012471 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0040024 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0100864 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001511 ORPHA:96334 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0001548 ORPHA:96334 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001629 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001642 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001643 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001647 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001680 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001714 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0002079 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0002119 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0002608 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0003196 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0005280 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0010800 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0011220 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000505 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000708 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000750 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001249 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001263 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001270 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001627 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0007018 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0012443 ORPHA:284169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000293 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000483 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000486 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000718 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000739 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001250 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001319 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0002019 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0002360 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0011968 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0012745 ORPHA:284169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000358 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000365 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000414 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000453 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000490 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000494 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000540 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000545 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000567 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000646 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000664 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0000729 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001321 ORPHA:284169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:211067 Episodic ataxia type 5 HP:0000640 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:211067 Episodic ataxia type 5 HP:0001251 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:211067 Episodic ataxia type 5 HP:0001260 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:211067 Episodic ataxia type 5 HP:0002078 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:211067 Episodic ataxia type 5 HP:0002172 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:211067 Episodic ataxia type 5 HP:0002321 ORPHA:211067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397685 Familial hyperprolactinemia HP:0000132 ORPHA:397685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397685 Familial hyperprolactinemia HP:0000134 ORPHA:397685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397685 Familial hyperprolactinemia HP:0000141 ORPHA:397685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397685 Familial hyperprolactinemia HP:0000789 ORPHA:397685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397685 Familial hyperprolactinemia HP:0000876 ORPHA:397685 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397685 Familial hyperprolactinemia HP:0000938 ORPHA:397685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397685 Familial hyperprolactinemia HP:0000939 ORPHA:397685 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397685 Familial hyperprolactinemia HP:0012886 ORPHA:397685 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397685 Familial hyperprolactinemia HP:0100829 ORPHA:397685 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000028 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000160 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000164 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000218 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000286 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000293 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000316 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000322 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000347 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000348 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000365 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000369 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000430 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000445 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000470 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000486 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000494 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000568 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000581 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000647 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000964 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0005916 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0001249 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0001611 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0001999 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0002263 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0006101 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0007370 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0007730 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0007957 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0008736 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0010489 ORPHA:284160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0100490 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000311 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000508 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0000518 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0001252 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0002714 ORPHA:284160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284160 8q21.11 microdeletion syndrome HP:0004408 ORPHA:284160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0000028 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0000046 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0000202 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0000293 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0000347 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0001561 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0001671 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0006703 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0008736 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0009812 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0009827 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0010494 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1027 Autosomal recessive amelia HP:0100335 ORPHA:1027 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0000272 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0000286 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0000297 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0000303 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0000729 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0000739 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0000752 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0001250 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0001263 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0001290 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0001321 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0002079 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0002342 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0002360 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0002553 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0008050 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0009088 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0012471 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0045075 ORPHA:521258 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521258 Xq25 microduplication syndrome HP:0004322 ORPHA:521258 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0000112 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0000217 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0000709 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0000979 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0000988 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001097 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001250 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001287 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001369 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001386 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001387 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001596 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001744 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001878 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001701 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001882 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0001945 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002020 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002092 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002094 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002102 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002206 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002239 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002240 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002716 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002797 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002829 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0002960 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0003010 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0003326 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0003565 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0005263 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0006530 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0009830 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0010885 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0012378 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0012819 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0100324 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0100614 ORPHA:809 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0100721 ORPHA:809 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:809 Mixed connective tissue disease HP:0100749 ORPHA:809 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0100730 ORPHA:2357 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0031983 ORPHA:2357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0045026 ORPHA:2357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0001945 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002031 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002090 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002094 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0003319 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0012735 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0031035 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0032016 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0032445 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0100749 ORPHA:2357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0000464 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0000775 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0001324 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0001637 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0001697 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002015 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002027 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002103 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002105 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002315 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002577 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002585 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0002699 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0003396 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0003401 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0003418 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0010766 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0030833 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0100712 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2357 Bronchogenic cyst HP:0100750 ORPHA:2357 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002315 ORPHA:2356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0010576 ORPHA:2356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0032070 ORPHA:2356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000020 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000238 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000508 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000622 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000639 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000651 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000716 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000734 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000737 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000745 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000818 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0000933 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0001123 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0001250 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0001269 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0001288 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0001293 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0001317 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0001350 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002018 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002027 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002138 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002176 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002273 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002308 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002321 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002354 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002385 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002460 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002540 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002839 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002936 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0003401 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0003418 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0003698 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0004396 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0005324 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0006824 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0007086 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0007291 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0007340 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0009745 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0010303 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0010628 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0011499 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0011868 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0012246 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0012514 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0012700 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0025331 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0025479 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0030215 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0032327 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0100754 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0100785 ORPHA:2356 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0001249 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0001360 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002084 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0002664 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0012294 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0012758 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0032059 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0032169 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2356 Arachnoid cyst HP:0100951 ORPHA:2356 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0000246 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0000708 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0001254 ORPHA:163703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0001699 ORPHA:163703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0001945 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0002315 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0002353 ORPHA:163703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0002376 ORPHA:163703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0002960 ORPHA:163703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0003326 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0007359 ORPHA:163703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163703 Febrile infection-related epilepsy syndrome HP:0012735 ORPHA:163703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000077 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000708 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0001250 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0002539 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0009716 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0009717 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0009719 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0011354 ORPHA:805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000107 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000716 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000717 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000718 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000729 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000752 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0001249 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0001328 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0002133 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0002360 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0007359 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0007449 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0008762 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0009594 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0009721 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0009729 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0010615 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0011097 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0012433 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0012469 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0012622 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0012758 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0012798 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0040030 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0100710 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0100716 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0200035 ORPHA:805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000083 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000739 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000822 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0001407 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0002098 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0002105 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0002465 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0006772 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0007018 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0009718 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0010953 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0011947 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0100804 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0200040 ORPHA:805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0000113 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0002666 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0002878 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0002893 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0002897 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0003774 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0004942 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0005584 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0008208 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0011029 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0012778 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0030405 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:805 Tuberous sclerosis complex HP:0100570 ORPHA:805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0000501 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0000529 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0001089 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0007663 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0009918 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0011483 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0011489 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0012040 ORPHA:64734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0007818 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0007990 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0011484 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0011500 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0011525 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0025309 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0025358 ORPHA:64734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64734 Iridocorneal endothelial syndrome HP:0001100 ORPHA:64734 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0000252 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0000275 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0000347 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0000363 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0000387 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0000444 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0000494 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0000501 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0000682 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0001249 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0001363 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0001385 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0001511 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0001852 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0002209 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0002650 ORPHA:808 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0002750 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0004209 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0004322 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0004326 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0005692 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0007495 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0009804 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0010579 ORPHA:808 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0011342 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:808 Seckel syndrome HP:0100543 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000499 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000548 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000556 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000574 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000613 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000639 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000648 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000664 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0002208 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0000505 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1021 Amaurosis-hypertrichosis syndrome HP:0008499 ORPHA:1021 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000713 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000726 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000738 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001250 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001276 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001289 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001300 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001336 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002120 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002185 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002354 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002463 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0003791 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0012433 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0012759 ORPHA:1020 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000734 ORPHA:1020 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000504 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0000657 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001249 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0001251 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002186 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0002381 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0010525 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0010526 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0011446 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1020 Early-onset autosomal dominant Alzheimer disease HP:0030219 ORPHA:1020 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0000256 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0000343 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0000347 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0000463 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0000470 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0000474 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0000476 ORPHA:93298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0000772 ORPHA:93298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0000774 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0001537 ORPHA:93298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0001561 ORPHA:93298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0001762 ORPHA:93298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0001773 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0001789 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0002007 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0030680 ORPHA:93298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0002983 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0003196 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0003336 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0003498 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0003510 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0005716 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0006703 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0010306 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0012368 ORPHA:93298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93298 Achondrogenesis type 1B HP:0100541 ORPHA:93298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0000256 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0000343 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0000347 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0000463 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0000470 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0000474 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0000476 ORPHA:93299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0000774 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0001537 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0001561 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0001773 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0001789 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0002007 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0030680 ORPHA:93299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0002757 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0002983 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0003196 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0003270 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0003336 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0003510 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0004279 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0005716 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0006640 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0006703 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0010306 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0012368 ORPHA:93299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93299 Achondrogenesis type 1A HP:0100541 ORPHA:93299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001072 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002829 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002960 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0003326 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0003493 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0030880 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0031359 ORPHA:801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0000160 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0000716 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001324 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0003198 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0003236 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0011838 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0012531 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0025131 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0030859 ORPHA:801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0000491 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0000554 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0000739 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0000966 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0000989 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001250 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001279 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001297 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001369 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001371 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001596 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001701 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001708 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0001919 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002020 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002092 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002094 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002206 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002244 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002250 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002315 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002577 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002584 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002604 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002754 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0005590 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0006121 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0006261 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0006530 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0007141 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0007400 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0009771 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0011024 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0011799 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0012622 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0012819 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0025520 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0030873 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0030890 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0031293 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0031329 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0100534 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0100543 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0100580 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0100661 ORPHA:801 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0000763 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002059 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002176 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0002326 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0007256 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0010628 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0012185 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0012486 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0025533 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0032018 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0032061 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0045054 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0100537 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:801 Scleroderma HP:0100758 ORPHA:801 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0000138 ORPHA:64739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0000837 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0001007 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0001541 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0002017 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0002018 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0002027 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0002202 ORPHA:64739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0003270 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0007430 ORPHA:64739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0008675 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0011106 ORPHA:64739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0012398 ORPHA:64739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0030088 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0012886 ORPHA:64739 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0030005 ORPHA:64739 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64739 Ovarian hyperstimulation syndrome HP:0100598 ORPHA:64739 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0003026 ORPHA:93296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0011849 ORPHA:93296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0000201 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0000478 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0000773 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0000774 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0000946 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0000969 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0002089 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0002652 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0002983 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0004322 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0004605 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0008788 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0008828 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0011800 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0030290 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0031096 ORPHA:93296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0000365 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0000518 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0000541 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0000545 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0001132 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0004327 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93296 Achondrogenesis type 2 HP:0006543 ORPHA:93296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0007354 ORPHA:803 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0002180 ORPHA:803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0003324 ORPHA:803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0007373 ORPHA:803 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0000217 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0000712 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0000716 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0000739 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0001257 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0002094 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0002795 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0002878 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0003202 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0003394 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0003470 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0012378 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0012531 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0030192 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0030195 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0030196 ORPHA:803 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0000713 ORPHA:803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0002017 ORPHA:803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:803 Amyotrophic lateral sclerosis HP:0025425 ORPHA:803 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000023 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000069 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000079 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000160 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000175 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000205 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000211 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000218 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000232 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000252 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000293 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000294 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000298 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000316 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000343 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000347 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000368 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000396 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000426 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000470 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000482 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000486 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000505 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000508 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000518 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000534 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000545 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000581 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000600 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000643 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000689 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000737 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000739 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000767 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000768 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000772 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000787 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000912 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000926 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000939 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0000944 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001083 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001239 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001249 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001265 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001276 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001288 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001324 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001385 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001387 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001522 ORPHA:800 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001537 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001557 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001561 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001601 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001618 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001620 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001621 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001762 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0001763 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002047 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002092 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002093 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002104 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002167 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002230 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002486 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002645 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002650 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002652 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002673 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002750 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002804 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002808 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002812 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002857 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0002983 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003042 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003044 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003179 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003198 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003202 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003236 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003273 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003306 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003307 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003326 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003457 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0003712 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0004322 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0004325 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0004326 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0005830 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0005930 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0006487 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0007018 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0007740 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0008056 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0008734 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0008872 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0009743 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0010508 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0010978 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0011001 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0011069 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0011675 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0012368 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0012544 ORPHA:800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0100569 ORPHA:800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0100612 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0100795 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:800 Schwartz-Jampel syndrome HP:0100813 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000232 ORPHA:1028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000682 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000684 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000958 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000962 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0000966 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0001231 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0001800 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0001806 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0002213 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0006286 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0006288 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0006482 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0009804 ORPHA:1028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1028 Amelo-onycho-hypohidrotic syndrome HP:0011073 ORPHA:1028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0002155 ORPHA:444490 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0003077 ORPHA:444490 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0012238 ORPHA:444490 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0000660 ORPHA:444490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0001433 ORPHA:444490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0001735 ORPHA:444490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0002574 ORPHA:444490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0100027 ORPHA:444490 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0001013 ORPHA:444490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0001397 ORPHA:444490 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0001508 ORPHA:444490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0002017 ORPHA:444490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0004325 ORPHA:444490 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0000716 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0000726 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0000819 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0000952 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0002204 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0002354 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0009789 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0100851 ORPHA:444490 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:444490 Familial chylomicronemia syndrome HP:0004416 ORPHA:444490 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000026 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000501 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000648 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000709 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000716 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000726 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000729 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000739 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000821 ORPHA:411590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000823 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0001952 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000863 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0002073 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0002093 ORPHA:411590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0002579 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0003477 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0008527 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000819 ORPHA:411590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0008193 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0000377 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0008850 ORPHA:411590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411590 Wolfram-like syndrome HP:0010935 ORPHA:411590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000160 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000219 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000303 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000322 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000325 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000369 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000385 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000417 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000444 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000490 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000494 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000708 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000709 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0001519 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000712 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0010864 ORPHA:397695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000678 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000738 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000746 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0000750 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0001166 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0001270 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0002751 ORPHA:397695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397695 3q27.3 microdeletion syndrome HP:0007074 ORPHA:397695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0000825 ORPHA:411593 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0000831 ORPHA:411593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0000855 ORPHA:411593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0002725 ORPHA:411593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0010702 ORPHA:411593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0030057 ORPHA:411593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0000956 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0001824 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0001958 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0002960 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0003162 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0005059 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411593 Insulin autoimmune syndrome HP:0012051 ORPHA:411593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000175 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000256 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000260 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000369 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000470 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000773 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000774 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000907 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000926 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000946 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0000969 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0001156 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0001538 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0001561 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0001623 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0001631 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0001762 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0002763 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0003015 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0003174 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0003417 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0005026 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0005622 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0008178 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0008479 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0008890 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2347 Lethal Kniest-like dysplasia HP:0012368 ORPHA:2347 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000098 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000140 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000252 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000256 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000324 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000501 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000518 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000790 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000965 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000995 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001004 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001012 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001048 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001161 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001180 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001250 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001528 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001626 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001635 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001704 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0001928 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0002204 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0002239 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0030680 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0002597 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0002650 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0002653 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0002814 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0004099 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0004936 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0005293 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0006101 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0007481 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0100543 ORPHA:2346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0100553 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0100554 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0100585 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0100658 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0100729 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0100761 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0100784 ORPHA:2346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0200042 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64741 Pulmonary blastoma HP:0001824 ORPHA:64741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64741 Pulmonary blastoma HP:0001945 ORPHA:64741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64741 Pulmonary blastoma HP:0002094 ORPHA:64741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64741 Pulmonary blastoma HP:0002105 ORPHA:64741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64741 Pulmonary blastoma HP:0002113 ORPHA:64741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64741 Pulmonary blastoma HP:0006532 ORPHA:64741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64741 Pulmonary blastoma HP:0012735 ORPHA:64741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64741 Pulmonary blastoma HP:0100528 ORPHA:64741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64741 Pulmonary blastoma HP:0100749 ORPHA:64741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome HP:0000815 ORPHA:1014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome HP:0001256 ORPHA:1014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome HP:0007418 ORPHA:1014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000175 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000324 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000365 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000465 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000470 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000772 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000912 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0000925 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0001291 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0001629 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0002023 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0002162 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0002414 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0030680 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0002650 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0003043 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0004374 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0004397 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0004602 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0005107 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0005640 ORPHA:2345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0005988 ORPHA:2345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0008678 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2345 Isolated Klippel-Feil syndrome HP:0100543 ORPHA:2345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0008151 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0030146 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0030169 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0031015 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0000952 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0000989 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0001405 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0001541 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0001873 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0002239 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0002480 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0002719 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0002904 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0002910 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0003073 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0011954 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0020136 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0020137 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0030242 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0100543 ORPHA:64743 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0001402 ORPHA:64743 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0001744 ORPHA:64743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0001903 ORPHA:64743 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0001409 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0001882 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0001892 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0001971 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0002040 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0003262 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64743 Hepatoportal sclerosis HP:0006707 ORPHA:64743 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0000853 ORPHA:64744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0100646 ORPHA:64744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0000821 ORPHA:64744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0000872 ORPHA:64744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0025379 ORPHA:64744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0032069 ORPHA:64744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0032300 ORPHA:64744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0001605 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0002015 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0002777 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0002901 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0002960 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0005994 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0009798 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0100647 ORPHA:64744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0005200 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0011784 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0012503 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0030991 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0031281 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0032039 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0045026 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0100732 ORPHA:64744 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0002664 ORPHA:64744 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:64744 IgG4-related thyroid disease HP:0012393 ORPHA:64744 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0000989 ORPHA:64745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0001065 ORPHA:64745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030350 ORPHA:64745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030351 ORPHA:64745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0001036 ORPHA:64745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0004324 ORPHA:64745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0025474 ORPHA:64745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030898 ORPHA:64745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0200037 ORPHA:64745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0001041 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030899 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030900 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0031248 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0031538 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0100872 ORPHA:64745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0000976 ORPHA:64745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0008066 ORPHA:64745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0025493 ORPHA:64745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0030901 ORPHA:64745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy HP:0002715 ORPHA:64745 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0000825 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001985 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001988 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0012051 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0030796 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0031084 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0040299 ORPHA:276556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0000713 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0000980 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001069 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001520 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001649 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001962 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0002329 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0012759 ORPHA:276556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001254 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001279 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001325 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0001639 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0002133 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0002173 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0002240 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0002591 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0007185 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0011968 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276556 Hyperinsulinism due to UCP2 deficiency HP:0031224 ORPHA:276556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0000653 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0000982 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0001597 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0002209 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0008404 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0045075 ORPHA:1010 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0000958 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0001807 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0004528 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0010491 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0011838 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0012785 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0032152 ORPHA:1010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0001041 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0001058 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0002223 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0002298 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0002435 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0009886 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0009900 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0031057 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0040189 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0100018 ORPHA:1010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0000613 ORPHA:1010 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0001250 ORPHA:1010 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98976 Congenital glaucoma HP:0000501 ORPHA:98976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98976 Congenital glaucoma HP:0001052 ORPHA:98976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98976 Congenital glaucoma HP:0000541 ORPHA:98976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98976 Congenital glaucoma HP:0000572 ORPHA:98976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0000505 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0000525 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0000587 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0000593 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0001138 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0007854 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0007906 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0007994 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0012108 ORPHA:98977 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0011003 ORPHA:98977 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0012511 ORPHA:98977 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0012796 ORPHA:98977 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0000603 ORPHA:98977 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0012636 ORPHA:98977 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98977 Juvenile glaucoma HP:0025326 ORPHA:98977 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0011490 ORPHA:98973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0011491 ORPHA:98973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000483 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000646 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0007663 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0011483 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0012040 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0025358 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0032122 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0100692 ORPHA:98973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000501 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000565 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000613 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000622 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0000632 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0007906 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0007957 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0009918 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0200026 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98973 Posterior polymorphous corneal dystrophy HP:0200065 ORPHA:98973 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0000158 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0000280 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0000821 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0000952 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0001288 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0001324 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0001537 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0002019 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0002167 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0002360 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0003198 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0003326 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0003712 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0004322 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome HP:0100543 ORPHA:2349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:443167 NUT midline carcinoma HP:0002664 ORPHA:443167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:443167 NUT midline carcinoma HP:0001909 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443167 NUT midline carcinoma HP:0002860 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443167 NUT midline carcinoma HP:0003006 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443167 NUT midline carcinoma HP:0012182 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443167 NUT midline carcinoma HP:0012254 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443167 NUT midline carcinoma HP:0045026 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443167 NUT midline carcinoma HP:0100757 ORPHA:443167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:443167 NUT midline carcinoma HP:0012142 ORPHA:443167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002015 ORPHA:1018 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002031 ORPHA:1018 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0012718 ORPHA:1018 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0100751 ORPHA:1018 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000093 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000112 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000407 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000478 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000518 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000790 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0001508 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002013 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002020 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002571 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0003262 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0006756 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0010460 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0012622 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0100749 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0100771 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0410281 ORPHA:1018 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000491 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0000545 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0001824 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002094 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0002205 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0003774 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0006524 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0010450 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0010614 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0010784 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0011501 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0011951 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0012252 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0012735 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0030416 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0032141 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0040288 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis HP:0100650 ORPHA:1018 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0000969 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0007663 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0007957 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0011488 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0011490 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0011491 ORPHA:98974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0000572 ORPHA:98974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0000662 ORPHA:98974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98974 Fuchs endothelial corneal dystrophy HP:0030857 ORPHA:98974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000147 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000311 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000819 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000855 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000869 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000956 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000963 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0000991 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001397 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001597 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001635 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001639 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001677 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001733 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0001744 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0002155 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0002230 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0002240 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0002621 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0003198 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0003326 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0003635 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0003712 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0005339 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0006288 ORPHA:2348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0006824 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0008065 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0009125 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0012084 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0100578 ORPHA:2348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0100607 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0100658 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2348 Familial partial lipodystrophy, Dunnigan type HP:0100820 ORPHA:2348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0001256 ORPHA:86909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0001326 ORPHA:86909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0002069 ORPHA:86909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0002123 ORPHA:86909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0007018 ORPHA:86909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0000718 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0000737 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0001263 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0001268 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0001336 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0002275 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0002376 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0007057 ORPHA:86909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0001112 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0001260 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0002121 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0002373 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0002463 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0007207 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0010862 ORPHA:86909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86909 Myoclonic epilepsy of infancy HP:0002301 ORPHA:86909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0003005 ORPHA:251937 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0002315 ORPHA:251937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0010302 ORPHA:251937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0012377 ORPHA:251937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0100006 ORPHA:251937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0000141 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0000802 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0000845 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0000975 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0002363 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0002460 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0002650 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0003401 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0005616 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0007359 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0011749 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0011761 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0012503 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0030018 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0040086 ORPHA:251937 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0000726 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0001262 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0001317 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0002591 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0003396 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251937 Gangliocytoma HP:0006767 ORPHA:251937 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009942 ORPHA:363417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0011297 ORPHA:363417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000164 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000668 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001090 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001156 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001249 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001263 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001510 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001566 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001999 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0006152 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0008625 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009608 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009944 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009966 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009970 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0011087 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0100266 ORPHA:363417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000160 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000311 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000327 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000347 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000369 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000517 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000592 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000648 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000677 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000691 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0000692 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001328 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0001773 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0002465 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0003196 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0004209 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0004279 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0004322 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0005037 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0008368 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0009466 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0010109 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0010554 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0011078 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0012795 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0040022 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0040159 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0100345 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363417 Temtamy preaxial brachydactyly syndrome HP:0100347 ORPHA:363417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000252 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000262 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000316 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000368 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000400 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000448 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000545 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000582 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000682 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000924 ORPHA:1005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000962 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000966 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0001156 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0001249 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0001387 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0001511 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0001596 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0002650 ORPHA:1005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0002808 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0002827 ORPHA:1005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0003422 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0003510 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0004209 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0004422 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0005048 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0005819 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0006101 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0006887 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0008064 ORPHA:1005 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0008070 ORPHA:1005 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0008388 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0008855 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0009738 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0009811 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0011039 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1003 Scalp defects-postaxial polydactyly syndrome HP:0001362 ORPHA:1003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1003 Scalp defects-postaxial polydactyly syndrome HP:0002084 ORPHA:1003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1003 Scalp defects-postaxial polydactyly syndrome HP:0002209 ORPHA:1003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1003 Scalp defects-postaxial polydactyly syndrome HP:0005696 ORPHA:1003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0000491 ORPHA:2334 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0000539 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0001104 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0007663 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0007750 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0007759 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0007990 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0011496 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0025348 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0032107 ORPHA:2334 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0000482 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0000518 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0000526 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0000589 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0006934 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2334 Autosomal dominant keratitis HP:0007633 ORPHA:2334 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000003 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000233 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000252 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000256 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000311 ORPHA:1001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000405 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000430 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000463 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000470 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000490 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0045075 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000582 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000708 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000717 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000722 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000733 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000776 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0000964 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001156 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001249 ORPHA:1001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001250 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001252 ORPHA:1001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001263 ORPHA:1001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001513 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001537 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001601 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001679 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001770 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0001773 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0002007 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0002021 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0002209 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0002360 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0002553 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0002558 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0030680 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0002667 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0002714 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0002779 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0004209 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0004279 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0004322 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0005280 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0005692 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0006101 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0006610 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0007018 ORPHA:1001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0007598 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0010049 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0010761 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0011800 ORPHA:1001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1001 2q37 microdeletion syndrome HP:0200055 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000343 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000400 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000426 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000430 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000463 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000465 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000470 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000486 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000506 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000574 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000637 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000664 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000677 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000891 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000954 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0001263 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0001566 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0001572 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0002650 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000028 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000175 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000219 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000252 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000316 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000325 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0002750 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0002942 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0002948 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0004322 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0008513 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0010720 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0011842 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0011968 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0012725 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0040019 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0000311 ORPHA:2332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0001250 ORPHA:2332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0002353 ORPHA:2332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0004474 ORPHA:2332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2332 KBG syndrome HP:0045017 ORPHA:2332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0000407 ORPHA:1000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0000486 ORPHA:1000 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0000505 ORPHA:1000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0000613 ORPHA:1000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0000639 ORPHA:1000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1000 Ocular albinism with late-onset sensorineural deafness HP:0001107 ORPHA:1000 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0000093 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0000509 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0000988 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0002633 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0025289 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0025493 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0100776 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0100825 ORPHA:2331 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0000206 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0000969 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0001369 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0001654 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0001701 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0001945 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0001974 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0002014 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0002027 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0012378 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0100643 ORPHA:2331 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0000508 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0000737 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0000952 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0001082 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0001287 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0001635 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0002017 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0002076 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0002829 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0004970 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0006530 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0006824 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0011658 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0011675 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0012115 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0012819 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2331 Kawasaki disease HP:0100586 ORPHA:2331 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000053 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000147 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000218 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000252 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000303 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000316 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000365 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000454 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000455 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000470 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000486 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000494 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000540 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000739 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000767 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000776 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001182 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001250 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001252 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0004322 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001537 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001620 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001956 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0001999 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0002342 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0002650 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0002788 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0004691 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0007018 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0007164 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0008070 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0009890 ORPHA:284180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0011343 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0200055 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0001250 ORPHA:268940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0000565 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0000750 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0001256 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0001263 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0001268 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0001270 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0001272 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0001285 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0002119 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0002200 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0002342 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0002463 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0004302 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0007256 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0007362 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0009878 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0010522 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0011099 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0012429 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0012650 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0007359 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0100543 ORPHA:268940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0000154 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0000183 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0000256 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0000347 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0000369 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0000407 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0001260 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0001349 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0001762 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0002069 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0002123 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0002197 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0002307 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0002804 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0006818 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0007024 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0012650 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0011787 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0011968 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0012469 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:0410011 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268940 Bilateral polymicrogyria HP:3000047 ORPHA:268940 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001249 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001250 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001269 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0002510 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0002539 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0007010 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0007024 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0010818 ORPHA:268943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0000421 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0000505 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0000565 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0000750 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0000961 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001256 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001270 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001297 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001312 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001336 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001999 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0002104 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0002133 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0002384 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0002421 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0002533 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0004305 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0006548 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0008610 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0008936 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0011344 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0012389 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0012469 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0012650 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0007359 ORPHA:268943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0000252 ORPHA:268943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001335 ORPHA:268943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0001627 ORPHA:268943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268943 Unilateral polymicrogyria HP:0040288 ORPHA:268943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0001028 ORPHA:2330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0001873 ORPHA:2330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0011900 ORPHA:2330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0000967 ORPHA:2330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0000979 ORPHA:2330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0005306 ORPHA:2330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0012329 ORPHA:2330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0000975 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0001875 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0001882 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0001903 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0001937 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0005520 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0008151 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0031207 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0100766 ORPHA:2330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0000998 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0001923 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0002027 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0002098 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0003270 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0008069 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2330 Kasabach-Merritt syndrome HP:0040213 ORPHA:2330 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0000707 ORPHA:466650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002047 ORPHA:466650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002018 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002315 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002321 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002789 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0011703 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0012378 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0030850 ORPHA:466650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001250 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001251 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001254 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001289 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001324 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001410 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001657 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001892 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002013 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002153 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002615 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002901 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002905 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0003128 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0003236 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0003256 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0003710 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0005135 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0012250 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0012417 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0030830 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0031258 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0031284 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0100520 ORPHA:466650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0000958 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0000970 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001399 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001873 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0001919 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0002480 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0003201 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466650 Exercise-induced malignant hyperthermia HP:0005521 ORPHA:466650 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0001249 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0001250 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0001263 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0001269 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0002539 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0011099 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0011153 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0100308 ORPHA:268947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0001256 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0001268 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0002342 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0007018 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0007334 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0007377 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0012015 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0012018 ORPHA:268947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0000020 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0000718 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0000758 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0001335 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0002354 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0002384 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0002463 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0007010 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0007229 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0011171 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0012014 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0012016 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268947 Unilateral focal polymicrogyria HP:0012017 ORPHA:268947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0007968 ORPHA:91495 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000518 ORPHA:91495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000555 ORPHA:91495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000568 ORPHA:91495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0007663 ORPHA:91495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0007957 ORPHA:91495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000519 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0007917 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0009917 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0012109 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0030743 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0030744 ORPHA:91495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000482 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000486 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000557 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000594 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000618 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000646 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0000667 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0001104 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0008052 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0009926 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0011885 ORPHA:91495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:91495 Persistent hyperplastic primary vitreous HP:0010766 ORPHA:91495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000164 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000230 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000238 ORPHA:1008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000365 ORPHA:1008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000499 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000704 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000995 ORPHA:1008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0001250 ORPHA:1008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0001256 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0002209 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0002231 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0002289 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0002353 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0002354 ORPHA:1008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0000252 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0000561 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0002059 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0002223 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0003510 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0007439 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0000405 ORPHA:1006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0000499 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0002167 ORPHA:1006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0002205 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0002231 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0002721 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0004313 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0004322 ORPHA:1006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0008070 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0011073 ORPHA:1006 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1006 Alopecia antibody deficiency HP:0100840 ORPHA:1006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0000989 ORPHA:2337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0007447 ORPHA:2337 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0008066 ORPHA:2337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0010783 ORPHA:2337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0200034 ORPHA:2337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2337 Non-epidermolytic palmoplantar keratoderma HP:0200042 ORPHA:2337 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0000137 ORPHA:314473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0001541 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0002027 ORPHA:314473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0002202 ORPHA:314473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0002586 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0002671 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0003270 ORPHA:314473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0008703 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0010603 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0010618 ORPHA:314473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314473 Ovarian fibroma HP:0030451 ORPHA:314473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002448 ORPHA:363400 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000842 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000855 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0003758 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0007272 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0009064 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0025128 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0100543 ORPHA:363400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000280 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000750 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001250 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001251 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001257 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001336 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001337 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001347 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001348 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001397 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002155 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002275 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002360 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0007256 ORPHA:363400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000752 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000822 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0000956 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0001394 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002059 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002066 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002230 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002240 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002273 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002340 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002451 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002529 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002878 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0003198 ORPHA:363400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy HP:0002133 ORPHA:363400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90160 Pressure-induced localized lipoatrophy HP:0100578 ORPHA:90160 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:90160 Pressure-induced localized lipoatrophy HP:0003758 ORPHA:90160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90160 Pressure-induced localized lipoatrophy HP:0011356 ORPHA:90160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90160 Pressure-induced localized lipoatrophy HP:0007485 ORPHA:90160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90160 Pressure-induced localized lipoatrophy HP:0010783 ORPHA:90160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90160 Pressure-induced localized lipoatrophy HP:0011123 ORPHA:90160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90160 Pressure-induced localized lipoatrophy HP:0200036 ORPHA:90160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0000013 ORPHA:325124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0000042 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0000054 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0000062 ORPHA:325124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0000837 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0008716 ORPHA:325124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0010469 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0012870 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0012872 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0040171 ORPHA:325124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325124 Testicular agenesis HP:0100779 ORPHA:325124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000271 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000303 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000322 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000365 ORPHA:2325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000545 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000682 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000684 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0001083 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0001231 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0001596 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0001800 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0001903 ORPHA:2325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0002209 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0003473 ORPHA:2325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0008066 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0009804 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0100543 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0100797 ORPHA:2325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia HP:0100798 ORPHA:2325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0100578 ORPHA:90158 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0003758 ORPHA:90158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0007485 ORPHA:90158 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0000953 ORPHA:90158 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0000989 ORPHA:90158 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0001010 ORPHA:90158 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0010783 ORPHA:90158 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0011123 ORPHA:90158 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0012344 ORPHA:90158 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0040189 ORPHA:90158 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90158 Idiopathic localized lipodystrophy HP:0100324 ORPHA:90158 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0100578 ORPHA:90159 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0003758 ORPHA:90159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0007485 ORPHA:90159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0010701 ORPHA:90159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0010783 ORPHA:90159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0011123 ORPHA:90159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0200036 ORPHA:90159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0003493 ORPHA:90159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90159 Panniculitis-induced localized lipodystrophy HP:0200029 ORPHA:90159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000316 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000750 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000938 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0001290 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002007 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002194 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002209 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002213 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002757 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0004482 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0005692 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0008897 ORPHA:2324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000303 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000369 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000414 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000592 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0000954 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0001250 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0001757 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0002750 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0004691 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome HP:0011800 ORPHA:2324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000028 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000164 ORPHA:2323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000233 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000252 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000343 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000347 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000348 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000368 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000444 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000483 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000490 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000682 ORPHA:2323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000829 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0001249 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0001250 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0001773 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0002119 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0002205 ORPHA:2323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0002750 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0002901 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0002905 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0003198 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0003416 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0004322 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0005214 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0005280 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0005374 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0005686 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0007957 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0008056 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0008198 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0008572 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0008736 ORPHA:2323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0008846 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0008897 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2323 Sanjad-Sakati syndrome HP:0200055 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000028 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000047 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000074 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000081 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000126 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000164 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000175 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000202 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000218 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000238 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000252 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000298 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000384 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000400 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000405 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000407 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000411 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000482 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000486 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000508 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000527 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000589 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000592 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000639 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000668 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000687 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000691 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000776 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0000826 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0001250 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0001252 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0001508 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0001513 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0001671 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0001680 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0002000 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0002119 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0002120 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0002353 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0002553 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0002650 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0002719 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0002827 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0002937 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0003312 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0003316 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0004322 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0004736 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0005338 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0005692 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0005819 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0006482 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0007477 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0007655 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0008428 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0008678 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0008736 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0009237 ORPHA:2322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0010978 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0011968 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0100267 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0100542 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2322 Kabuki syndrome HP:0200055 ORPHA:2322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0000078 ORPHA:2321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0000252 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0000311 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0000431 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0000506 ORPHA:2321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0000821 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0000929 ORPHA:2321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0000958 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0001249 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0001252 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0001321 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0002162 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0002205 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0002777 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0003312 ORPHA:2321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0005280 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2321 Jung syndrome HP:0007370 ORPHA:2321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70567 Cholangiocarcinoma HP:0000952 ORPHA:70567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70567 Cholangiocarcinoma HP:0000989 ORPHA:70567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70567 Cholangiocarcinoma HP:0001945 ORPHA:70567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70567 Cholangiocarcinoma HP:0002027 ORPHA:70567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70567 Cholangiocarcinoma HP:0002039 ORPHA:70567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70567 Cholangiocarcinoma HP:0011985 ORPHA:70567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70567 Cholangiocarcinoma HP:0012378 ORPHA:70567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70567 Cholangiocarcinoma HP:0100574 ORPHA:70567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0045075 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000653 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000668 ORPHA:59303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000677 ORPHA:59303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000682 ORPHA:59303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000952 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000956 ORPHA:59303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0001396 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0001409 ORPHA:59303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0001744 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0002231 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0002240 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0004552 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0002209 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0008064 ORPHA:59303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000164 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000218 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000239 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000365 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000518 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000520 ORPHA:90153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000534 ORPHA:90153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000561 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000855 ORPHA:90153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000953 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0000963 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0001252 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0001371 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0001376 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0001596 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0001870 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0002645 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0002797 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0002829 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0003011 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0003077 ORPHA:90153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0004322 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0004334 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0005328 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0006710 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0007495 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0009839 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0009882 ORPHA:90153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0100679 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy HP:0100783 ORPHA:90153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0000825 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0000842 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001985 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0003162 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0030796 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0031084 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0040299 ORPHA:276575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0000713 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0000980 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001069 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001520 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001649 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001962 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0002173 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0002329 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0012759 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0031223 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0031224 ORPHA:276575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001254 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001279 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001325 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0001639 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0002133 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0002240 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0002591 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0007185 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0011968 ORPHA:276575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0100651 ORPHA:276575 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000160 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000164 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000239 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000347 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000444 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000520 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000823 ORPHA:90154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000855 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000924 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000953 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0000963 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0001211 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0001595 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0001596 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0001870 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0002797 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0003077 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0003196 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0003761 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0004322 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0004334 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0005328 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0006710 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0007495 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0008404 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0009064 ORPHA:90154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0009839 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy HP:0009882 ORPHA:90154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0000252 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0000320 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0000340 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0000414 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0000444 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0001510 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0001873 ORPHA:169079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0001888 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0001903 ORPHA:169079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0002718 ORPHA:169079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0002721 ORPHA:169079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0002960 ORPHA:169079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0004313 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0004429 ORPHA:169079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0005403 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169079 Cernunnos-XLF deficiency HP:0010976 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000202 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000358 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000369 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000414 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000480 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000568 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000612 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0001249 ORPHA:2328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000059 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000470 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0001508 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0002019 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0002566 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0008736 ORPHA:2328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000384 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0000413 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0001302 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0001629 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0001636 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0001643 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0002126 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2328 Kapur-Toriello syndrome HP:0006989 ORPHA:2328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90156 Centrifugal lipodystrophy HP:0100578 ORPHA:90156 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:90156 Centrifugal lipodystrophy HP:0003758 ORPHA:90156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90156 Centrifugal lipodystrophy HP:0007485 ORPHA:90156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90156 Centrifugal lipodystrophy HP:0000765 ORPHA:90156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90156 Centrifugal lipodystrophy HP:0002840 ORPHA:90156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90156 Centrifugal lipodystrophy HP:0010783 ORPHA:90156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90156 Centrifugal lipodystrophy HP:0011123 ORPHA:90156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90156 Centrifugal lipodystrophy HP:0040189 ORPHA:90156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90156 Centrifugal lipodystrophy HP:0001596 ORPHA:90156 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90156 Centrifugal lipodystrophy HP:0005320 ORPHA:90156 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90157 Drug-induced localized lipodystrophy HP:0100578 ORPHA:90157 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:90157 Drug-induced localized lipodystrophy HP:0003758 ORPHA:90157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90157 Drug-induced localized lipodystrophy HP:0007485 ORPHA:90157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90157 Drug-induced localized lipodystrophy HP:0000953 ORPHA:90157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90157 Drug-induced localized lipodystrophy HP:0001010 ORPHA:90157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90157 Drug-induced localized lipodystrophy HP:0010783 ORPHA:90157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0000137 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0001007 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0001541 ORPHA:314478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0002027 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0002202 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0002586 ORPHA:314478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0003117 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0003270 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0006756 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0008703 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0010618 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0030088 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0030126 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0100244 ORPHA:314478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314478 Ovarian fibrothecoma HP:0100608 ORPHA:314478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000044 ORPHA:2326 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001249 ORPHA:2326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0010632 ORPHA:2326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000054 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000104 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000175 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000200 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000407 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000823 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000938 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000939 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0000961 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001510 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001644 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001719 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0002750 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0004322 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0004971 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0008689 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0008734 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0010633 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0011638 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0012020 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0030148 ORPHA:2326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001635 ORPHA:2326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001653 ORPHA:2326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0001659 ORPHA:2326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0005211 ORPHA:2326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2326 Kallmann syndrome-heart disease syndrome HP:0010444 ORPHA:2326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0000825 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0000842 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001985 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0003162 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0030796 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0031084 ORPHA:276580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0000713 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0000980 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001069 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001520 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001649 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001962 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0002173 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0002329 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0004924 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0012759 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0031224 ORPHA:276580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001254 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001279 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001324 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001325 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0001639 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0002133 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0002240 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0002591 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0007185 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0009800 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0011968 ORPHA:276580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0100651 ORPHA:276580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0002070 ORPHA:363432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0002078 ORPHA:363432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0000640 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0000666 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0001290 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0002167 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0002355 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0004302 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0006855 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0012444 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0100543 ORPHA:363432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001252 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002020 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000486 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001250 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002360 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001388 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001763 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002650 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000403 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000963 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001270 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000750 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001249 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000752 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000736 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000733 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0100023 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0100962 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000817 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0025160 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000737 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000718 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0100716 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000276 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0011220 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000400 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000303 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001634 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002616 ORPHA:449291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000735 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000739 ORPHA:449291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000716 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0001328 ORPHA:449291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002442 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0007018 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0002960 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000821 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000836 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000819 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000822 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers HP:0000729 ORPHA:449291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0000238 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0000651 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0002017 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0002315 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0002354 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0002516 ORPHA:251915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0000492 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0000639 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0002131 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0002922 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0030531 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0100543 ORPHA:251915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0000364 ORPHA:251915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251915 Papillary tumor of the pineal region HP:0002355 ORPHA:251915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000076 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000110 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000126 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000256 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000268 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000272 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000286 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000293 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000307 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000365 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000400 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000414 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000431 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000486 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000490 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000508 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000527 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000540 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000574 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000678 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000689 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000729 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000750 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000752 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000960 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0000966 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001004 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001176 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001249 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001250 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001263 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001274 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001319 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001513 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001537 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001581 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0001800 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0002017 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0002020 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0002360 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0002721 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0003763 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0004209 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0005616 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0007328 ORPHA:48652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0008278 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0011968 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0012167 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0012787 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0100540 ORPHA:48652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48652 Monosomy 22q13.3 HP:0100702 ORPHA:48652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000164 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000175 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000230 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000271 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000389 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000431 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000490 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000684 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000938 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000964 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000988 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0000989 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0001363 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0001595 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0001818 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0001880 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0001945 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002205 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002617 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002650 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002665 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002719 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002754 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0002757 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0003212 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0005692 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0008391 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0011220 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0011354 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0012735 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0100658 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0100750 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0200034 ORPHA:2314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0200037 ORPHA:2314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2314 Autosomal dominant hyper-IgE syndrome HP:0200042 ORPHA:2314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000008 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000023 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000028 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000047 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000069 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000175 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000252 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000256 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000269 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000337 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000343 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000368 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000463 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000470 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000772 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000776 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000902 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0001249 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0001511 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0001537 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0002093 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0002435 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0030680 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0002650 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0002808 ORPHA:2311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0003298 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0003312 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0003422 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0004322 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0005108 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0005280 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0006101 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0006655 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0010306 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0010772 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0010978 ORPHA:2311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0100490 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0100589 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0000505 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0000518 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0002023 ORPHA:2310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0002650 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0002814 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0002823 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0003307 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0005930 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2310 Absence deformity of leg-cataract syndrome HP:0009816 ORPHA:2310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000135 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000407 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000426 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000430 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000431 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000506 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000534 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000633 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000639 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000966 ORPHA:163746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001053 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001100 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001249 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001250 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001251 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001252 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001257 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001263 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0001744 ORPHA:163746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002019 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002027 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002216 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002240 ORPHA:163746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002251 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002595 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0002804 ORPHA:163746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0004388 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0005599 ORPHA:163746 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0007256 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0009830 ORPHA:163746 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0011675 ORPHA:163746 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0000252 ORPHA:2319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0000445 ORPHA:2319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0001511 ORPHA:2319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0003510 ORPHA:2319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0000047 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0000085 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0000202 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0000316 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0000534 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0000772 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0005916 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0001167 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0001249 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0001765 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0001770 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0002553 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0002650 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0002974 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0002984 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0003019 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0003468 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0009778 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0009811 ORPHA:2319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0000508 ORPHA:2319 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0001305 ORPHA:2319 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2319 Juberg-Hayward syndrome HP:0001545 ORPHA:2319 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000083 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000112 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000238 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000276 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000368 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000426 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000463 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000486 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000505 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000508 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000556 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000567 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000612 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000618 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000639 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000708 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000729 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0000864 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001161 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001249 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001250 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001251 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001252 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001263 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001320 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0001829 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002084 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002104 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002251 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002269 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002419 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002553 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0030680 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002650 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0002789 ORPHA:2318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0004422 ORPHA:2318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2318 Joubert syndrome with oculorenal defect HP:0007370 ORPHA:2318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000135 ORPHA:2316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000405 ORPHA:2316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000413 ORPHA:2316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0008070 ORPHA:2316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0001596 ORPHA:2316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000324 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000411 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000561 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000670 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0001249 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0002223 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0003510 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0008551 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0010628 ORPHA:2316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000175 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000232 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000252 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000414 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000453 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000458 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000494 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000966 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0001161 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0001177 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0001508 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0001636 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0007565 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000047 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000126 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000142 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000164 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000252 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000407 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000430 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000632 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000677 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000684 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000691 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000819 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000969 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001092 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001249 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001252 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001508 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001511 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001522 ORPHA:2315 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001545 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001596 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001651 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001671 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001732 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001738 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0001903 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0002023 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0002024 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0030680 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0002750 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0003075 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0003196 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0004322 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0005288 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0008736 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0010460 ORPHA:2315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2315 Johanson-Blizzard syndrome HP:0010720 ORPHA:2315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:211017 Spinocerebellar ataxia type 30 HP:0001260 ORPHA:211017 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:211017 Spinocerebellar ataxia type 30 HP:0002066 ORPHA:211017 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:211017 Spinocerebellar ataxia type 30 HP:0002070 ORPHA:211017 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:211017 Spinocerebellar ataxia type 30 HP:0000640 ORPHA:211017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:211017 Spinocerebellar ataxia type 30 HP:0002395 ORPHA:211017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:211017 Spinocerebellar ataxia type 30 HP:0006855 ORPHA:211017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50942 Striate palmoplantar keratoderma HP:0000982 ORPHA:50942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50942 Striate palmoplantar keratoderma HP:0001595 ORPHA:50942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50942 Striate palmoplantar keratoderma HP:0001597 ORPHA:50942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50943 Keratolytic winter erythema HP:0000975 ORPHA:50943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50943 Keratolytic winter erythema HP:0010783 ORPHA:50943 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50943 Keratolytic winter erythema HP:0200039 ORPHA:50943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0010799 ORPHA:251909 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0002315 ORPHA:251909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0000708 ORPHA:251909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0002344 ORPHA:251909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0002354 ORPHA:251909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0002516 ORPHA:251909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0100543 ORPHA:251909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0000619 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0000763 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0001085 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0001250 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0003470 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0007045 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0007663 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0007987 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0009919 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0100576 ORPHA:251909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0001254 ORPHA:251909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251909 Pineoblastoma HP:0004372 ORPHA:251909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0000320 ORPHA:50944 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0000668 ORPHA:50944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0000968 ORPHA:50944 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0000982 ORPHA:50944 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0008070 ORPHA:50944 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0001596 ORPHA:50944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0002671 ORPHA:50944 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0002860 ORPHA:50944 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0006323 ORPHA:50944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0007380 ORPHA:50944 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0100615 ORPHA:50944 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50944 Schöpf-Schulz-Passarge syndrome HP:0100840 ORPHA:50944 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000272 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000343 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000347 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000369 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000463 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000506 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000518 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000520 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000695 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000773 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000774 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000916 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0000926 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0001538 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0001561 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0001622 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0001680 ORPHA:50945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0001789 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0002089 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0003015 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0003021 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0003027 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0003196 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0005280 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0005616 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0005716 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0005930 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0006402 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0006487 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0006660 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0008905 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0008921 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0010049 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0010306 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0010808 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0011001 ORPHA:50945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50945 Blomstrand lethal chondrodysplasia HP:0100240 ORPHA:50945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000639 ORPHA:363429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000657 ORPHA:363429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002073 ORPHA:363429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0007256 ORPHA:363429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000508 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000543 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000565 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000571 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000666 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001256 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001263 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001290 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001310 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001510 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001583 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001763 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002075 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002119 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002136 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002355 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002464 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0004322 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0007221 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0007240 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0100275 ORPHA:363429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001347 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002465 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0002828 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0003487 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0006951 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0010864 ORPHA:363429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0001250 ORPHA:363429 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0000238 ORPHA:251912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0002017 ORPHA:251912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0002315 ORPHA:251912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0002354 ORPHA:251912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0002516 ORPHA:251912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0000492 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0000639 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0002131 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0002922 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0030531 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0100543 ORPHA:251912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0000364 ORPHA:251912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251912 Pineocytoma HP:0002355 ORPHA:251912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0002086 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0002091 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0002094 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0002207 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0002792 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0002875 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0003546 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0006530 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0030874 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0031246 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0031631 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0031944 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0031998 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0032341 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0045051 ORPHA:2302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0000961 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0001648 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0001708 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0002206 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0002878 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0012418 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0025179 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0030828 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0030849 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0030879 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0031352 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0032016 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0100749 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0100759 ORPHA:2302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0000969 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0001685 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0030078 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0100001 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0100721 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2302 Asbestos intoxication HP:0100750 ORPHA:2302 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2301 Congenital short bowel syndrome HP:0004322 ORPHA:2301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2301 Congenital short bowel syndrome HP:0005245 ORPHA:2301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2301 Congenital short bowel syndrome HP:0100543 ORPHA:2301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2301 Congenital short bowel syndrome HP:0100578 ORPHA:2301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2301 Congenital short bowel syndrome HP:0100627 ORPHA:2301 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2301 Congenital short bowel syndrome HP:0008070 ORPHA:2301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2301 Congenital short bowel syndrome HP:0002566 ORPHA:2301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2300 Multiple intestinal atresia HP:0001561 ORPHA:2300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2300 Multiple intestinal atresia HP:0100867 ORPHA:2300 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2300 Multiple intestinal atresia HP:0002589 ORPHA:2300 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0000982 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0007446 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0008401 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0008404 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0012514 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0030268 ORPHA:2309 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0002745 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0007410 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0007490 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0007502 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0010765 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0012035 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0025245 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0040036 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0100798 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0200040 ORPHA:2309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0000695 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0001508 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0001818 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0006288 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0011968 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0025248 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0030766 ORPHA:2309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0001596 ORPHA:2309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0001609 ORPHA:2309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0002098 ORPHA:2309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2309 Pachyonychia congenita HP:0030318 ORPHA:2309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000003 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000023 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000028 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000126 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000174 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000243 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000256 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000286 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000316 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000319 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000324 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000343 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000348 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000368 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000431 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000463 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000465 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000470 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000482 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000486 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000494 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000508 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000518 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000612 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000625 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000656 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000921 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0000964 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001161 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001249 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001250 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001263 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001274 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001302 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001510 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001511 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001522 ORPHA:2308 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001622 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001629 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001650 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001680 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001734 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001763 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001770 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001831 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001847 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001863 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001873 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0001883 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002007 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002019 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002021 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002059 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002119 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002205 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002247 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002414 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002566 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002650 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0002827 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0003196 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0003312 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0004322 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0004378 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0004383 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0004397 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0005528 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0006101 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0007018 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0007302 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0008872 ORPHA:2308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0009906 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0010059 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0010761 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0100753 ORPHA:2308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2308 Jacobsen syndrome HP:0100840 ORPHA:2308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0000365 ORPHA:2307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0000486 ORPHA:2307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0001387 ORPHA:2307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0002984 ORPHA:2307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0003510 ORPHA:2307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0001199 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0002650 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0002974 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0005048 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0007477 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0009778 ORPHA:2307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0000143 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0001177 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0001873 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0001974 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0002023 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0006660 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2307 IVIC syndrome HP:0011675 ORPHA:2307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0008551 ORPHA:2306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0000023 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0000175 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0000238 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0000252 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0000347 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0000384 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0000413 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0000582 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0000932 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0001511 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0001643 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0001647 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0001650 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0001710 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0001713 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0002020 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0000463 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0005120 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0005301 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0008619 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0008774 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0008897 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0011342 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0011718 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0011968 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0012303 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0009892 ORPHA:2306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0001888 ORPHA:2306 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2306 Isotretinoin-like syndrome HP:0002901 ORPHA:2306 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0000175 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0000347 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0000356 ORPHA:2305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0000960 ORPHA:2305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0001252 ORPHA:2305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0001315 ORPHA:2305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0001800 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0003298 ORPHA:2305 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0004422 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0005280 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0008551 ORPHA:2305 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2305 Isotretinoin syndrome HP:0100543 ORPHA:2305 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000200 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000179 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000194 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000218 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000252 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000327 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000348 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000421 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000455 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000490 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000678 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000716 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000718 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000729 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000739 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000750 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0001263 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000817 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000821 ORPHA:293939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000957 ORPHA:293939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0001249 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0004322 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0001643 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0001655 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0001840 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0002099 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0002829 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0002788 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0003265 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0003324 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0003550 ORPHA:293939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0007018 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0008551 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0010862 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0011234 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0011730 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0012169 ORPHA:293939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0012172 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0030051 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0030084 ORPHA:293939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0012724 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0100710 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0100840 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0001875 ORPHA:70592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0002718 ORPHA:70592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0002721 ORPHA:70592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0005366 ORPHA:70592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0007499 ORPHA:70592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0002848 ORPHA:70593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410299 ORPHA:70593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410300 ORPHA:70593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410302 ORPHA:70593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410303 ORPHA:70593 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0000246 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0000388 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0012384 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0030374 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0031949 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0200117 ORPHA:70593 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0001047 ORPHA:70593 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0002099 ORPHA:70593 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0007274 ORPHA:70593 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0010976 ORPHA:70593 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410240 ORPHA:70593 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410242 ORPHA:70593 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410243 ORPHA:70593 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0410295 ORPHA:70593 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0000225 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0000421 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0000978 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0001107 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0001249 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0001276 ORPHA:352723 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0001928 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0002071 ORPHA:352723 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0002205 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0002311 ORPHA:352723 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0002721 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0007513 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0009830 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0100022 ORPHA:352723 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352723 Attenuated Chédiak-Higashi syndrome HP:0200042 ORPHA:352723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000338 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000366 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000508 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000708 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000750 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000975 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001249 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001270 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001324 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001332 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001337 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001347 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0002063 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0002067 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0002329 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0002360 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0002509 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0005968 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0008936 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0010553 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0100543 ORPHA:70594 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000252 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001250 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001510 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0001518 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0100021 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000508 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000597 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000639 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001260 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001265 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001336 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001751 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002066 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002151 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002403 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002495 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0003200 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0003434 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0003557 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0003701 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0006858 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0007344 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0008619 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0012696 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0025331 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0031422 ORPHA:70595 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000518 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000716 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001250 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001284 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0001644 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002076 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002354 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0002578 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0004389 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0100543 ORPHA:70595 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000639 ORPHA:280633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001250 ORPHA:280633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001263 ORPHA:280633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0006829 ORPHA:280633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0011344 ORPHA:280633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000218 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000280 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000486 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001156 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001182 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001265 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001337 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001615 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001655 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001773 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002020 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0004488 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008872 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0010291 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0011247 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0012448 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0200055 ORPHA:280633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000034 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000072 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000126 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000154 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000160 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000212 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000219 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000269 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000286 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000293 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000308 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000316 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000319 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000350 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000396 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000463 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000470 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000498 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000565 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000582 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000646 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000664 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000774 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000932 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001272 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001347 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001631 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001643 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001667 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001761 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0001804 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002015 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002023 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002025 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002079 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002092 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002100 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002119 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002265 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002286 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002305 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002616 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0002951 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0003196 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0003324 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0004681 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0004742 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0004969 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0005830 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0006165 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0006254 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0007441 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008551 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008635 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008676 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008718 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0008994 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0010282 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0010544 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0010804 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0010880 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0011271 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0011333 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome HP:0025025 ORPHA:280633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0100295 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000218 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000276 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001250 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001270 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001284 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001612 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001618 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001761 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002421 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002515 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002751 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003306 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003325 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003458 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003693 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0009053 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0010307 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001252 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0012801 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0030051 ORPHA:98914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000308 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000369 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000407 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000565 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000639 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000651 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000768 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001265 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001374 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001388 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001561 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002020 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002392 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002870 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0005943 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0007178 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0025401 ORPHA:98914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0030208 ORPHA:98914 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000467 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000508 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002015 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002033 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002882 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003473 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003701 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0004661 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0004889 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0011968 ORPHA:98914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000602 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0000961 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001249 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001251 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001283 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001558 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0001611 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002205 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002355 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002804 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0002872 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003324 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0003388 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0004885 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0008443 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0010536 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0011469 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0030842 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98914 Presynaptic congenital myasthenic syndromes HP:0100285 ORPHA:98914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003324 ORPHA:98915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003403 ORPHA:98915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003701 ORPHA:98915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000467 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000508 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000597 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001252 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001263 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001265 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001488 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001612 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002015 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002033 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002093 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002098 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002421 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002460 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002515 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003198 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003398 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003436 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003443 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003691 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0010628 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0012379 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0030203 ORPHA:98915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000218 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001249 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001284 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001324 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002643 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002650 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002783 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002791 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002815 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003202 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003327 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003388 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003803 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0005216 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0007941 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0010535 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0030211 ORPHA:98915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000207 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0000303 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001667 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001762 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0001999 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002092 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002359 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0002875 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0003554 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0006251 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98915 Synaptic congenital myasthenic syndromes HP:0030237 ORPHA:98915 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0007131 ORPHA:98916 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0001265 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0001290 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0001954 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0002307 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0002317 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0003445 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0005335 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0009053 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0012534 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0031162 ORPHA:98916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0003383 ORPHA:98916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy HP:0002066 ORPHA:98916 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0001265 ORPHA:98911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0002355 ORPHA:98911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0009063 ORPHA:98911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0009830 ORPHA:98911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0030226 ORPHA:98911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0001260 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0001611 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0002828 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0003236 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0003458 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0003552 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0003693 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0006794 ORPHA:98911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0001638 ORPHA:98911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98911 Distal myotilinopathy HP:0009073 ORPHA:98911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0030198 ORPHA:98912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0031374 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0031189 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009073 ORPHA:98912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0002505 ORPHA:98912 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0001638 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009830 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0001626 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0008969 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0001288 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009027 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0011808 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009072 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009005 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0009077 ORPHA:98912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0003324 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0002505 ORPHA:98912 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0008954 ORPHA:98912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0003325 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0008997 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0005162 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98912 Late-onset distal myopathy, Markesbery-Griggs type HP:0012722 ORPHA:98912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0001324 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000218 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000496 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000508 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000597 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0001315 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0001446 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003202 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003388 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003402 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003403 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003443 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003458 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003484 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003547 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003722 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0003803 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0009005 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0010628 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0030199 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0410011 ORPHA:98913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000651 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0000961 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002091 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002194 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002329 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002650 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002792 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002875 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0002878 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0005659 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0009077 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0012515 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0012764 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0030196 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0031108 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98913 Postsynaptic congenital myasthenic syndromes HP:0031374 ORPHA:98913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000179 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000252 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000294 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000341 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000368 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000463 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000486 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000527 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000574 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001007 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001263 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001274 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001276 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001320 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001344 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0001510 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0002470 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0002509 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0002553 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0010864 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0011451 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0100540 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0002465 ORPHA:466688 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type HP:0007390 ORPHA:86923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type HP:0007447 ORPHA:86923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0012240 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0012472 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0040081 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001413 ORPHA:98907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0007009 ORPHA:98907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001513 ORPHA:98907 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001946 ORPHA:98907 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0007479 ORPHA:98907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0009073 ORPHA:98907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000385 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000407 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000486 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000508 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000523 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000639 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0000656 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001251 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001263 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001284 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001397 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001596 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001638 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0001911 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0002155 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0002240 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0002355 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0002910 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0002922 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0003198 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0003458 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0003547 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98907 Neutral lipid storage disease with ichthyosis HP:0004322 ORPHA:98907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0003547 ORPHA:98908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0009073 ORPHA:98908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0012240 ORPHA:98908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0012548 ORPHA:98908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0001270 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0001290 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0001397 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0001638 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0002155 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0002355 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0002380 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0002910 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0003198 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0003326 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0003388 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0003391 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0003749 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0008167 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0009046 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0025435 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0040081 ORPHA:98908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0000407 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0000467 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0000819 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0001256 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0001284 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0001635 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0002240 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0003805 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0004322 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0006280 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0009027 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0009055 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0009063 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0030237 ORPHA:98908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0001082 ORPHA:98908 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0012683 ORPHA:98908 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0001513 ORPHA:98908 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98908 Neutral lipid storage myopathy HP:0008064 ORPHA:98908 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0009053 ORPHA:98909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0003722 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0030319 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0005157 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0001635 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0001678 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0005115 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0002505 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0002747 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0003323 ORPHA:98909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0002355 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0030192 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0030196 ORPHA:98909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0001645 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0002522 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0003327 ORPHA:98909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0005659 ORPHA:98909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98909 Desminopathy HP:0003306 ORPHA:98909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0002094 ORPHA:70578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0002113 ORPHA:70578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0012415 ORPHA:70578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0012418 ORPHA:70578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0030782 ORPHA:70578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0001942 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0002615 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0002878 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0011118 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0030783 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0031273 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0100598 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0100806 ORPHA:70578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0002090 ORPHA:70578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0001733 ORPHA:70578 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0001953 ORPHA:70578 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70578 Adult acute respiratory distress syndrome HP:0002633 ORPHA:70578 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000544 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001270 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001290 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001324 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001558 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002058 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002795 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003327 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003557 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003560 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003701 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003803 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0009025 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0010628 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0011805 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0011807 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0011968 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0031237 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0100293 ORPHA:98905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000028 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000046 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000054 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000218 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000275 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000508 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0000969 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001349 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001371 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001388 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0001561 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002090 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002205 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002650 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0002878 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003202 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003547 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0003798 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0008850 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0009046 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0010804 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0011399 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0012036 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0031139 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0040191 ORPHA:98905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001528 ORPHA:293964 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0000771 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001325 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001520 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001956 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001958 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001985 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001998 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0002173 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0006568 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0030812 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0040214 ORPHA:293964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0002960 ORPHA:293964 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0030781 ORPHA:293964 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0011505 ORPHA:411527 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0030497 ORPHA:411527 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0031805 ORPHA:411527 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0000572 ORPHA:411527 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0001085 ORPHA:411527 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0012841 ORPHA:411527 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0040049 ORPHA:411527 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0000501 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0000580 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0000608 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0000622 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0001129 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0004328 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0007984 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0030666 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411527 Central retinal vein occlusion HP:0100014 ORPHA:411527 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000130 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000160 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000238 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000256 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000271 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000308 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000316 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000368 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000463 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000478 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0000504 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0001249 ORPHA:59315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0001251 ORPHA:59315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0001626 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0002023 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0002032 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0002119 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0002251 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0002335 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0002575 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0003196 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0006101 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0006899 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0009803 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0009943 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0010442 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0010664 ORPHA:59315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0012210 ORPHA:59315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0100321 ORPHA:59315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:59315 Rhombencephalosynapsis HP:0100842 ORPHA:59315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0000768 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0001270 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0001319 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0001337 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0003044 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0003273 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0003323 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0003458 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0003803 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0007126 ORPHA:98902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0002747 ORPHA:98902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98902 Amish nemaline myopathy HP:0001249 ORPHA:98902 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0001004 ORPHA:90186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0000987 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0001581 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0002732 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0002849 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0003550 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0005406 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0010741 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0010781 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0031288 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0100658 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0200041 ORPHA:90186 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0000282 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0002202 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0002619 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0007514 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0012027 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0012398 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0100539 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0200042 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90186 Meige disease HP:0200058 ORPHA:90186 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0002027 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0012547 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0031416 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0004360 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001919 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001735 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0011675 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001251 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0000622 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0011710 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0031546 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0030149 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0025143 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001635 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0002014 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001260 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0100660 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0000969 ORPHA:466677 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0031956 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0010783 ORPHA:466677 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0003781 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001945 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0003076 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0010828 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0003074 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0000975 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0002487 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001347 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0000822 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0002900 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0031185 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0032232 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0025435 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0410173 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0002919 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0000616 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0005967 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0011499 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0012819 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001336 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0012531 ORPHA:466677 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0003401 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0200023 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0025072 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0100598 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0000979 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001950 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0000711 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0003201 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0012250 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001250 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001297 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0010872 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001649 ORPHA:466677 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0002789 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0001337 ORPHA:466677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0006682 ORPHA:466677 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466677 Scorpion envenomation HP:0002013 ORPHA:466677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome HP:0001063 ORPHA:86918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome HP:0007447 ORPHA:86918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000852 ORPHA:280651 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000028 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000047 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000272 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000303 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000311 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000463 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000750 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000851 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001156 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001249 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001263 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001328 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001511 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001831 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002516 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002901 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002905 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0003165 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0003528 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0004646 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0005280 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0005305 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0005453 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0005616 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0008450 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0008479 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0008497 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0009803 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0010049 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0010579 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0010743 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0011800 ORPHA:280651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000135 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000717 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000752 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000819 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000824 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0001513 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002650 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0003416 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0003502 ORPHA:280651 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0000635 ORPHA:280651 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002286 ORPHA:280651 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0002297 ORPHA:280651 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280651 Acrodysostosis with multiple hormone resistance HP:0003456 ORPHA:280651 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:86919 Keratosis palmaris et plantaris-clinodactyly syndrome HP:0000975 ORPHA:86919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86919 Keratosis palmaris et plantaris-clinodactyly syndrome HP:0004209 ORPHA:86919 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:86919 Keratosis palmaris et plantaris-clinodactyly syndrome HP:0007447 ORPHA:86919 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001635 ORPHA:70591 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002092 ORPHA:70591 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0005317 ORPHA:70591 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001962 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002204 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002625 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002792 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002875 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0012378 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0030877 ORPHA:70591 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0000716 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0000969 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001279 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001513 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001693 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001708 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0001871 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002960 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0003613 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0004831 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0005133 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0005135 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0005162 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0010536 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0011227 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0011712 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0011901 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0012146 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0012184 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0012417 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0025343 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0030718 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0030977 ORPHA:70591 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002037 ORPHA:70591 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002664 ORPHA:70591 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0002754 ORPHA:70591 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70591 Chronic thromboembolic pulmonary hypertension HP:0005547 ORPHA:70591 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000256 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000733 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000739 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000750 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001249 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001963 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0002007 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0031936 ORPHA:397612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000218 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000303 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000308 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000431 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000494 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0000729 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001250 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001252 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001363 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0001433 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0004209 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0006532 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0010845 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0011220 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0030799 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0045025 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0100540 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397612 Macrocephaly-developmental delay syndrome HP:0100716 ORPHA:397612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169095 Severe combined immunodeficiency due to FOXN1 deficiency HP:0001803 ORPHA:169095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169095 Severe combined immunodeficiency due to FOXN1 deficiency HP:0001807 ORPHA:169095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169095 Severe combined immunodeficiency due to FOXN1 deficiency HP:0002721 ORPHA:169095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169095 Severe combined immunodeficiency due to FOXN1 deficiency HP:0005403 ORPHA:169095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169095 Severe combined immunodeficiency due to FOXN1 deficiency HP:0005597 ORPHA:169095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0000389 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0000705 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001252 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001287 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001945 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002090 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002718 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002721 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002841 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002960 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0003198 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0004429 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0007676 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0011084 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0011274 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0100806 ORPHA:169090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0000970 ORPHA:169090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001744 ORPHA:169090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002240 ORPHA:169090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002716 ORPHA:169090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001873 ORPHA:169090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0001878 ORPHA:169090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction HP:0002664 ORPHA:169090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000154 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000256 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000293 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000347 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000455 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000483 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000490 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000504 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000545 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000582 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000708 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000718 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000729 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000742 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0000750 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0001249 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0001256 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0001263 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0001382 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0001513 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0003196 ORPHA:293948 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0100716 ORPHA:293948 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0100738 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0100962 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293948 1p21.3 microdeletion syndrome HP:0400004 ORPHA:293948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48686 Primary effusion lymphoma HP:0001698 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48686 Primary effusion lymphoma HP:0002027 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48686 Primary effusion lymphoma HP:0002094 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48686 Primary effusion lymphoma HP:0002202 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48686 Primary effusion lymphoma HP:0002585 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48686 Primary effusion lymphoma HP:0002721 ORPHA:48686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48686 Primary effusion lymphoma HP:0003270 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48686 Primary effusion lymphoma HP:0012191 ORPHA:48686 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000047 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000068 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000076 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000126 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000175 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000202 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000217 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000359 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000370 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000407 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000453 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000491 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000498 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0045075 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000574 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000613 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000621 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000632 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000670 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000679 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000682 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000691 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000778 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000824 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000830 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000958 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000962 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0001171 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0001249 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0001770 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0001803 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0001839 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0002208 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0002213 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0002217 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0002665 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0003764 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0004322 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0006101 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0006709 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0007513 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0008065 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0008404 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0008572 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0008678 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0009601 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0009623 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0009804 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0010311 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0100257 ORPHA:1896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0200020 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0000966 ORPHA:1896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1896 EEC syndrome HP:0100533 ORPHA:1896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0000160 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0000233 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0000238 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0000347 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0000369 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0000453 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0000463 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0000664 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0001007 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0001088 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0001238 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0001249 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0001250 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0001276 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0001387 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0001508 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0001608 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0002007 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0002093 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0002162 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0002230 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0002269 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0002714 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0003196 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0005616 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0008056 ORPHA:1895 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0009465 ORPHA:1895 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1895 Edinburgh malformation syndrome HP:0100807 ORPHA:1895 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0001156 ORPHA:1892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0001162 ORPHA:1892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0005916 ORPHA:1892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0006101 ORPHA:1892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0009773 ORPHA:1892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0100257 ORPHA:1892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1892 Ectrodactyly-polydactyly syndrome HP:0100490 ORPHA:1892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0001518 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0001622 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0002088 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0002094 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0002097 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0002098 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0004887 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0006528 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0012419 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0012735 ORPHA:70589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0001667 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0001708 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0002360 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0002795 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0002871 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0003546 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0006597 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0012252 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0030828 ORPHA:70589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0002786 ORPHA:70589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0100632 ORPHA:70589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70589 Bronchopulmonary dysplasia HP:0100750 ORPHA:70589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0001249 ORPHA:1891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0001257 ORPHA:1891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0001258 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0001347 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0002817 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0003272 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0004209 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0006101 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1891 Intellectual disability-spasticity-ectrodactyly syndrome HP:0007598 ORPHA:1891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0000154 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0000687 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0001010 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0001250 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0001256 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0001513 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0002353 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0002395 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0004485 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0005484 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0005599 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0007730 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0008947 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0040082 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0040196 ORPHA:411511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0000303 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0000486 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0000748 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0001251 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0001263 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0002015 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0002033 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0002046 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0002136 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0002141 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0002167 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0002307 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0005469 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0010808 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0011968 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0100022 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0100023 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0100703 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411511 Angelman syndrome due to a point mutation HP:0100738 ORPHA:411511 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0001905 ORPHA:182050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0000083 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0000093 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0000112 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0000123 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0000132 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0000407 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0000978 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0001902 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0002910 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0003010 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0004406 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0007819 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0008264 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0011877 ORPHA:182050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:182050 MYH9-related disease HP:0001658 ORPHA:182050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000748 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001010 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001250 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001513 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001999 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0002353 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0002591 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0005599 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0007730 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0008872 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0008947 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0031936 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0040082 ORPHA:411515 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000154 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000303 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000708 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000710 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000736 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000752 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001251 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0001344 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0002136 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0002307 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0002465 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0004485 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0006979 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13 HP:0410263 ORPHA:411515 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0012418 ORPHA:70587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0000765 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0000961 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0001622 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0002789 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0002878 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0030863 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0100598 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0100750 ORPHA:70587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0001649 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0001662 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0001695 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0002090 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0002615 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0011947 ORPHA:70587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70587 Infant acute respiratory distress syndrome HP:0100806 ORPHA:70587 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0002098 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0005828 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0011410 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0025116 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0031169 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0031860 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0031983 ORPHA:70588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0001511 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0001788 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0002092 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0002107 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0009800 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0011951 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0012418 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0012420 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0012768 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0025421 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0030828 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0100750 ORPHA:70588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0001298 ORPHA:70588 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:70588 Meconium aspiration syndrome HP:0010444 ORPHA:70588 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000963 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000974 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0001001 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0001252 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0001373 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0001385 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0001387 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002300 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002381 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002381 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002673 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002812 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002827 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0003510 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0005692 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0005743 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0010529 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0010547 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0100699 ORPHA:1899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000278 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000286 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000316 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000347 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0002650 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0005280 ORPHA:1899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0000023 ORPHA:1899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome HP:0100541 ORPHA:1899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0000613 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0000635 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0000639 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0000649 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0000992 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0007513 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0007663 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0007680 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0007730 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0007750 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0011358 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0012805 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0025551 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0025568 ORPHA:352731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0000486 ORPHA:352731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0000646 ORPHA:352731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0002226 ORPHA:352731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0002227 ORPHA:352731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0001072 ORPHA:352731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0008069 ORPHA:352731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:352731 Oculocutaneous albinism type 1 HP:0025127 ORPHA:352731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0000486 ORPHA:1897 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0000488 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0000504 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0000670 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0000687 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0001592 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0002223 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0002231 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0006101 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0006482 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0007703 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0007754 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0100257 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0000478 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0000691 ORPHA:1897 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1897 EEM syndrome HP:0002209 ORPHA:1897 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007020 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0000252 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0008848 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0001256 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0008376 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0002194 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0002191 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0002395 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0011448 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0003487 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0000175 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0000193 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0030625 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007814 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007199 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0004302 ORPHA:506353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0030182 ORPHA:506353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007220 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0001250 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007768 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007663 ORPHA:506353 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0002493 ORPHA:506353 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0000975 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0000989 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0001251 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0001744 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0001824 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0001871 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0001945 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0002039 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0002094 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0002105 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0002240 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0002315 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0002653 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0002664 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0002665 ORPHA:98293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0002716 ORPHA:98293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0002721 ORPHA:98293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0009830 ORPHA:98293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0012378 ORPHA:98293 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0012735 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98293 Hodgkin lymphoma HP:0100749 ORPHA:98293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000179 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000272 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000337 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000414 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001263 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001999 ORPHA:506358 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000307 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000324 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000358 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000486 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000494 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000629 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000708 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000750 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001252 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001256 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001511 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0002342 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0008872 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0011339 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0011471 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0031936 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0200136 ORPHA:506358 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000028 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000074 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000126 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000164 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000218 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000268 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000297 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000347 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000369 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000483 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000506 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000508 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000540 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000717 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000729 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000739 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000821 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000824 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0000974 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001274 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001332 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001337 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001344 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001363 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001518 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001655 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001822 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0001852 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0002032 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0002079 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0002119 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0002171 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0002236 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0002500 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0002515 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0002719 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0003006 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0003187 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0005684 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0006094 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0007018 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0007678 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0008944 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0010316 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0010499 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0010864 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0011311 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0011344 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0012448 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506358 Gabriele-de Vries syndrome HP:0045075 ORPHA:506358 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0000403 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0000651 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001263 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0000824 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0008163 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001045 ORPHA:293978 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001325 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001508 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001596 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001973 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0001988 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002110 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002121 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002153 ORPHA:293978 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002615 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002788 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002837 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0005365 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002902 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0002920 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0003765 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0004313 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0004429 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0006532 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0007418 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0008404 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0011108 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0011735 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0004332 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0012378 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0012504 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0030057 ORPHA:293978 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0030349 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0030353 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0100646 ORPHA:293978 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0100776 ORPHA:293978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0100803 ORPHA:293978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0100806 ORPHA:293978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0000939 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0000989 ORPHA:98292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0001000 ORPHA:98292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0001025 ORPHA:98292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0001744 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0002014 ORPHA:98292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0002017 ORPHA:98292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0002039 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0002093 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0002099 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0002239 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0002240 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0002488 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0002615 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0002757 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0003072 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0005558 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0008066 ORPHA:98292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0010829 ORPHA:98292 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0011675 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0012378 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0012733 ORPHA:98292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0012735 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0100242 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0100326 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0100495 ORPHA:98292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0100585 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98292 Mastocytosis HP:0100665 ORPHA:98292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000122 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000482 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000543 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002135 ORPHA:90324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002446 ORPHA:90324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002461 ORPHA:90324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0007346 ORPHA:90324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0012447 ORPHA:90324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000011 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000992 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001256 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001284 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001347 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002080 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002317 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002355 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0003134 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0003202 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0003477 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0004302 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0004934 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0005181 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0007108 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0008615 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0009830 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0012444 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0012762 ORPHA:90324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000016 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000072 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000083 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000126 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000253 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000331 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000400 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000405 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000460 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000486 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000490 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000518 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000540 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000613 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000639 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000670 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001250 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001530 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001999 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002020 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002216 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002240 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002344 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002650 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002808 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002910 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0006297 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0011359 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0011968 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0012758 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0032263 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0100543 ORPHA:90324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000089 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000546 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000556 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000568 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0000573 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001097 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001105 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001297 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001371 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001638 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0001744 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0002616 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0011527 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0012804 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90324 Cockayne syndrome type 3 HP:0100309 ORPHA:90324 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000256 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000316 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000407 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000463 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000633 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000709 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000712 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000716 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000718 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000722 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000729 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000735 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000739 ORPHA:293987 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001263 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000805 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000823 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000824 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000863 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000864 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000870 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000961 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000966 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001156 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001250 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001290 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0004322 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001513 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001945 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0001959 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002045 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002099 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002153 ORPHA:293987 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002342 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002376 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002383 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002418 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0012332 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002579 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002591 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002608 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002650 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000232 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002783 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002788 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002791 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002870 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002902 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0002910 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0003005 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0003074 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0003077 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0005280 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0005616 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0006543 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0006747 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0007110 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0007328 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0007695 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0008213 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0011220 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0011748 ORPHA:293987 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0011787 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0011968 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0012412 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0012704 ORPHA:293987 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0030050 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0100716 ORPHA:293987 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000750 ORPHA:436151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0001270 ORPHA:436151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0001999 ORPHA:436151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000752 ORPHA:436151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0001256 ORPHA:436151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0002300 ORPHA:436151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0002353 ORPHA:436151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0012433 ORPHA:436151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000276 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000369 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000957 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0001250 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0002187 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0002342 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0002546 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0010864 ORPHA:436151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000276 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000303 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000505 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000518 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000633 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000648 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000822 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000966 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001251 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001288 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001337 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001347 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0002014 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0002172 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0002355 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0002650 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0003134 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0003138 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0004370 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0005328 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000083 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000331 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000400 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000486 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000509 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000528 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000554 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000613 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000639 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000674 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000680 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001034 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001250 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001252 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001903 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0002061 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0002240 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0002360 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0006297 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0006313 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0006334 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0100699 ORPHA:90321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000026 ORPHA:90321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000028 ORPHA:90321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000365 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000490 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000580 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000992 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001249 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001508 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0001999 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0002135 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0002910 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0004463 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0008366 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0008897 ORPHA:90321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000093 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90321 Cockayne syndrome type 1 HP:0000164 ORPHA:90321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0001249 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0001511 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0001999 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0002545 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0007346 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0012758 ORPHA:90322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000276 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000303 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0001251 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0001288 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0002172 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0002355 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0005328 ORPHA:90322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000331 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000365 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000400 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000486 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000505 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000509 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000519 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000528 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000554 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000613 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000639 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000674 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000680 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0001034 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0001371 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0002061 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0002240 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0002509 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0002650 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0002808 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0006297 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0006313 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0006334 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0008872 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0008936 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0100699 ORPHA:90322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000026 ORPHA:90322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90322 Cockayne syndrome type 2 HP:0000028 ORPHA:90322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0001945 ORPHA:454836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0003326 ORPHA:454836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0012378 ORPHA:454836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0012735 ORPHA:454836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0025439 ORPHA:454836 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0001873 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0001882 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0001888 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002113 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002315 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0011227 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0012418 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0025179 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0031246 ORPHA:454836 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0000509 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002013 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002014 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002027 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002090 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002094 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002202 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002878 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0005268 ORPHA:454836 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0025435 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0031245 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0100749 ORPHA:454836 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0001287 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0001635 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0001919 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002098 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002107 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002383 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002789 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0002910 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0003073 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0003201 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0003236 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0005521 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0012115 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0012486 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454836 Avian influenza HP:0100806 ORPHA:454836 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001954 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002019 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002046 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002079 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002263 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002558 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002572 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002578 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002579 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002705 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002877 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0003186 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0003388 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0003422 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0004389 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0004442 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0004443 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0004467 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0004942 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0005487 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0006481 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0007328 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0007655 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0008872 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0009794 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0009804 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0010297 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0010807 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0011147 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0011330 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0011470 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0011807 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0100259 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000637 ORPHA:453504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001252 ORPHA:453504 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000028 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000076 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000126 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000158 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000194 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000252 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000276 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000431 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000455 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000689 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001363 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001385 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001510 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001627 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001629 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002282 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002342 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002465 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002540 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002650 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002711 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0002714 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0003763 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0010864 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0010880 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0031936 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000175 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000193 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000280 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000405 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000407 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000411 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000430 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000476 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000508 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000540 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000545 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000586 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000587 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000589 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000609 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000821 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000938 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000975 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001250 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001274 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001284 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001315 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001324 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001388 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001548 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001631 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001647 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001762 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001763 ORPHA:453504 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0000980 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0001324 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0001744 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0001878 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0002014 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0002017 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0002240 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0002315 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0002716 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0002829 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0002960 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0003418 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0012086 ORPHA:56425 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:56425 Cold agglutinin disease HP:0012378 ORPHA:56425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000657 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001290 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001321 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001508 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002007 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002119 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002419 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002789 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0004719 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0011933 ORPHA:397715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000047 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000083 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000110 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000286 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000316 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000347 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000368 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000369 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000396 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000545 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000556 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000572 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000773 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000803 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000890 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001156 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001263 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001273 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001305 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001317 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001320 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001331 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001344 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0001591 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002020 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002085 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002100 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002104 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002134 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002195 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002205 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002280 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002435 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002516 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002558 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0002910 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0003170 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0003411 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0004322 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0004629 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0004991 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0005257 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0005280 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0005989 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0006528 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0006610 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0006668 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0006711 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0006956 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0007082 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0008445 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0008797 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0009921 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0010013 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0010579 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0011927 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0011968 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0012106 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0012795 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0030048 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0031528 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0100259 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0100954 ORPHA:397715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0033978 ORPHA:309162 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0001251 ORPHA:309162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0001260 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0001272 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0001288 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0001508 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0002311 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0003202 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0003701 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0007256 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0100543 ORPHA:309162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0000020 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0001250 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0002014 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0002015 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0002019 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0002059 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0002071 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0002380 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0002460 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0003121 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0031006 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0100785 ORPHA:309162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0000729 ORPHA:309162 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0001761 ORPHA:309162 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309162 Sandhoff disease, juvenile form HP:0100786 ORPHA:309162 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000028 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000044 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000054 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000193 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000252 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000316 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000347 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000411 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000444 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000545 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001263 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000771 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000786 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000823 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000831 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000912 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001007 ORPHA:293967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001123 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001250 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001270 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001276 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001328 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0004322 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001562 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001761 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001845 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0001935 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0002061 ORPHA:293967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0002553 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0002750 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0002857 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0010055 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0008527 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0009185 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0003799 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0006353 ORPHA:293967 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0007266 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0007642 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0008734 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0008850 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0011246 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0011304 ORPHA:293967 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0011343 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0011408 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0011968 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0012795 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0100689 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0033978 ORPHA:309169 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0001257 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0001260 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0001268 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0001337 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0002015 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0002066 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0003390 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0003484 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0008994 ORPHA:309169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0000739 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0001315 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0001332 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0002380 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0003236 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0003394 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0004373 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0025268 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309169 Sandhoff disease, adult form HP:0100295 ORPHA:309169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69744 Circumscribed palmoplantar hypokeratosis HP:0001227 ORPHA:69744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69744 Circumscribed palmoplantar hypokeratosis HP:0010486 ORPHA:69744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69744 Circumscribed palmoplantar hypokeratosis HP:0011121 ORPHA:69744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69744 Circumscribed palmoplantar hypokeratosis HP:0100872 ORPHA:69744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69744 Circumscribed palmoplantar hypokeratosis HP:0200035 ORPHA:69744 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1995 Cleft lip-retinopathy syndrome HP:0000488 ORPHA:1995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1995 Cleft lip-retinopathy syndrome HP:0000505 ORPHA:1995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1995 Cleft lip-retinopathy syndrome HP:0007703 ORPHA:1995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1995 Cleft lip-retinopathy syndrome HP:0100335 ORPHA:1995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69736 Bilateral acute depigmentation of the iris HP:0007990 ORPHA:69736 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:69736 Bilateral acute depigmentation of the iris HP:0008034 ORPHA:69736 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:69736 Bilateral acute depigmentation of the iris HP:0000593 ORPHA:69736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69736 Bilateral acute depigmentation of the iris HP:0000613 ORPHA:69736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69736 Bilateral acute depigmentation of the iris HP:0011488 ORPHA:69736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69736 Bilateral acute depigmentation of the iris HP:0012372 ORPHA:69736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69736 Bilateral acute depigmentation of the iris HP:0200026 ORPHA:69736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69736 Bilateral acute depigmentation of the iris HP:0002788 ORPHA:69736 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69736 Bilateral acute depigmentation of the iris HP:0012631 ORPHA:69736 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69736 Bilateral acute depigmentation of the iris HP:0012634 ORPHA:69736 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0000161 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0000175 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0000190 ORPHA:1993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0000193 ORPHA:1993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0000316 ORPHA:1993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0000494 ORPHA:1993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0000506 ORPHA:1993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0000612 ORPHA:1993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0001482 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0002084 ORPHA:1993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0004122 ORPHA:1993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0005280 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0006866 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0007370 ORPHA:1993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0010609 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1993 Pai syndrome HP:0100582 ORPHA:1993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome HP:0001511 ORPHA:436144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome HP:0004322 ORPHA:436144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome HP:0008734 ORPHA:436144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0000561 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0001596 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0002209 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0002223 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0002231 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0003550 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0100763 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0100869 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0100870 ORPHA:69735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0000034 ORPHA:69735 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0000965 ORPHA:69735 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0100540 ORPHA:69735 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0001541 ORPHA:69735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0001789 ORPHA:69735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0002202 ORPHA:69735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0004334 ORPHA:69735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1991 Cleft lip with or without cleft palate HP:0100335 ORPHA:1991 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1991 Cleft lip with or without cleft palate HP:0000365 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1991 Cleft lip with or without cleft palate HP:0000403 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1991 Cleft lip with or without cleft palate HP:0001328 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1991 Cleft lip with or without cleft palate HP:0011109 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1991 Cleft lip with or without cleft palate HP:0011968 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1991 Cleft lip with or without cleft palate HP:0100338 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1991 Cleft lip with or without cleft palate HP:0410031 ORPHA:1991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1991 Cleft lip with or without cleft palate HP:0000161 ORPHA:1991 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1991 Cleft lip with or without cleft palate HP:0008501 ORPHA:1991 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0000280 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0000486 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0001252 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0002857 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0003028 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0006094 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0010864 ORPHA:436141 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0001513 ORPHA:436141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0001250 ORPHA:436141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0001288 ORPHA:436141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0002360 ORPHA:436141 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31112 Dermatofibrosarcoma protuberans HP:0001072 ORPHA:31112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31112 Dermatofibrosarcoma protuberans HP:0001482 ORPHA:31112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31112 Dermatofibrosarcoma protuberans HP:0008069 ORPHA:31112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31112 Dermatofibrosarcoma protuberans HP:0010783 ORPHA:31112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31112 Dermatofibrosarcoma protuberans HP:0100244 ORPHA:31112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31112 Dermatofibrosarcoma protuberans HP:0200042 ORPHA:31112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000280 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000750 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002194 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0007360 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0010862 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0010864 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0011344 ORPHA:397709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000158 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000407 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000639 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000729 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001251 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001252 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001344 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002007 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002136 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002751 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0004482 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0011842 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0100540 ORPHA:397709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000218 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000289 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000293 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000307 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000343 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000350 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000431 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000506 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000678 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000768 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001156 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001250 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001257 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001265 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001433 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001631 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001643 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0001762 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002002 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002186 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002219 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002500 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0002684 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0003487 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0005280 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0006951 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0008443 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0010471 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0012110 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0012385 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0012471 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0012745 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0012810 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0030084 ORPHA:397709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000316 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000405 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000478 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000492 ORPHA:1997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000504 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000670 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0000698 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0002023 ORPHA:1997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0002744 ORPHA:1997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0006101 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0007651 ORPHA:1997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0009743 ORPHA:1997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0011362 ORPHA:1997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0012905 ORPHA:1997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1997 Blepharo-cheilo-odontic syndrome HP:0200040 ORPHA:1997 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0002451 ORPHA:210571 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0000473 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0001260 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0001300 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0001347 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0001618 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0002015 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0002067 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0002174 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0002310 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0002317 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0007256 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0012514 ORPHA:210571 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0001270 ORPHA:210571 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210571 Dystonia 16 HP:0001249 ORPHA:210571 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0033978 ORPHA:309155 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0001250 ORPHA:309155 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0001347 ORPHA:309155 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0002376 ORPHA:309155 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0009062 ORPHA:309155 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0012758 ORPHA:309155 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0001257 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0001336 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0002069 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0002120 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0002267 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0003429 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0004481 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0007083 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0010729 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0012696 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0032794 ORPHA:309155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0000280 ORPHA:309155 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0001433 ORPHA:309155 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0001653 ORPHA:309155 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0010780 ORPHA:309155 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0100814 ORPHA:309155 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309155 Sandhoff disease, infantile form HP:0001634 ORPHA:309155 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000105 ORPHA:90301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000147 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000831 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000845 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000855 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000956 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0001007 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0003394 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0008675 ORPHA:90301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0002270 ORPHA:43116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0000711 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0000737 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0000739 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001268 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001289 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001336 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001337 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001649 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0002014 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0002018 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0100785 ORPHA:43116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0000570 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0000713 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0000822 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0000975 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001250 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001347 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0002169 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0002789 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0003128 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0011499 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0032044 ORPHA:43116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0000738 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001259 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001276 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001399 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001919 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0001945 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0002063 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0002615 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0003201 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0005521 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:43116 Serotonin syndrome HP:0031258 ORPHA:43116 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0000252 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0001250 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0001392 ORPHA:1980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0001511 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0001873 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0001933 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0002119 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0002240 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0002269 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0002514 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0007957 ORPHA:1980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000160 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000399 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000407 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000408 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000518 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000574 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000519 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000824 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0001270 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002827 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0004322 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002571 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002650 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002652 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002655 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0002857 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0009830 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0003162 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0003416 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0005659 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0007470 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0008445 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0008619 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0011220 ORPHA:436174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0002814 ORPHA:90307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0100026 ORPHA:90307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0001722 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0002617 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0002619 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0004947 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0004948 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0007394 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0008968 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0012721 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0025104 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0025474 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0032555 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0100553 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0100784 ORPHA:90307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0000016 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0000079 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0000100 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0001892 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0002138 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0002196 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0002315 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0002390 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0002408 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0002817 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0002936 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0003418 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0003474 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0005521 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0006489 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0007340 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0010484 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0012514 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0012531 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0030833 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0031138 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0031939 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0040189 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0100749 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0100766 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0100775 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0200042 ORPHA:90307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0007461 ORPHA:90307 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90307 Parkes Weber syndrome HP:0010550 ORPHA:90307 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0000098 ORPHA:90308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0000140 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0000252 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0000256 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0000790 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0000929 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0000969 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0001028 ORPHA:90308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0001249 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0001541 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0001631 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0001635 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0001643 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0001702 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0001789 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0001935 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0002093 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0002204 ORPHA:90308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0002239 ORPHA:90308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0002240 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0003010 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0004414 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0004936 ORPHA:90308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0005293 ORPHA:90308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0011029 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0011842 ORPHA:90308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0100559 ORPHA:90308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0100560 ORPHA:90308 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0100658 ORPHA:90308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0100724 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0100784 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31142 Oral erosive lichen HP:0000155 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31142 Oral erosive lichen HP:0000958 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31142 Oral erosive lichen HP:0008066 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31142 Oral erosive lichen HP:0010783 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31142 Oral erosive lichen HP:0100725 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31142 Oral erosive lichen HP:0100825 ORPHA:31142 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0011834 ORPHA:280679 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000027 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000278 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000316 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000343 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000518 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000707 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000815 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000822 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000823 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001342 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001644 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001999 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0002140 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0002216 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0004302 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0004322 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0007970 ORPHA:280679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000369 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000445 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000454 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000490 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0000824 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001263 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001324 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0001677 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0008734 ORPHA:280679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53372 Hereditary geniospasm HP:0012462 ORPHA:53372 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:53372 Hereditary geniospasm HP:3000007 ORPHA:53372 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53372 Hereditary geniospasm HP:0000178 ORPHA:53372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53372 Hereditary geniospasm HP:0012433 ORPHA:53372 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53372 Hereditary geniospasm HP:0002080 ORPHA:53372 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:53372 Hereditary geniospasm HP:0002353 ORPHA:53372 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:53372 Hereditary geniospasm HP:0003457 ORPHA:53372 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000023 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000028 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000040 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000113 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000175 ORPHA:1988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000202 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000219 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000343 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000347 ORPHA:1988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000369 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000486 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000582 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000772 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000902 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0000912 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0001385 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0001762 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0001841 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0002119 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0030680 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0002644 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0002650 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0002812 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0002974 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0002991 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0003097 ORPHA:1988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0003196 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0003422 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0004322 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0005107 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0005772 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0007370 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0008551 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0008678 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0009800 ORPHA:1988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1988 Femoral-facial syndrome HP:0100542 ORPHA:1988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1986 Gollop-Wolfgang complex HP:0004058 ORPHA:1986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1986 Gollop-Wolfgang complex HP:0005772 ORPHA:1986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1986 Gollop-Wolfgang complex HP:0006495 ORPHA:1986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1986 Gollop-Wolfgang complex HP:0010443 ORPHA:1986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1986 Gollop-Wolfgang complex HP:0100257 ORPHA:1986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000122 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000286 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000347 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000358 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000396 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000470 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000581 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000592 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000601 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000767 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0000921 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0001177 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0001508 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0001511 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0002092 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0002206 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0002643 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0002650 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0002937 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0004322 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0005950 ORPHA:52047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0005988 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0006610 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52047 Braddock syndrome HP:0010720 ORPHA:52047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000028 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000047 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000218 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000233 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000252 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000286 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000293 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000347 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000348 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000369 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000426 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000431 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000470 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000486 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000490 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000494 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000582 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000708 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000776 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001182 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001250 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001256 ORPHA:251071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001263 ORPHA:251071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001510 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001511 ORPHA:251071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001513 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001636 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001639 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001643 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001669 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001671 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001679 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001763 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0001824 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0002465 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0030680 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0003196 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0004322 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0004383 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0004415 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0004422 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0006610 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0006695 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0007018 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0008572 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0009623 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0010059 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0011304 ORPHA:251071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0100625 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0001770 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0004209 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0004279 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0004691 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0005048 ORPHA:157801 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0006101 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0008362 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0009701 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0009773 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0009778 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0009843 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157801 Mesoaxial synostotic syndactyly with phalangeal reduction HP:0010109 ORPHA:157801 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0000085 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0000160 ORPHA:1973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0000175 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0000316 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0000319 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0000411 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0000430 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0000431 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0000668 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0001249 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0001357 ORPHA:1973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0001508 ORPHA:1973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0001704 ORPHA:1973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1973 Faciocardiorenal syndrome HP:0001706 ORPHA:1973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0000160 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0000171 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0000308 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0001511 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0001643 ORPHA:1972 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0001852 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0002984 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0003022 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0003038 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0004059 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0004383 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0005736 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0007598 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0009237 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1972 Lethal faciocardiomelic dysplasia HP:0009778 ORPHA:1972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000028 ORPHA:1970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000046 ORPHA:1970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000164 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000174 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000256 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000280 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000286 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000337 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000348 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000368 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000431 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000545 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000574 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000639 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000648 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000664 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001007 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001099 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001250 ORPHA:1970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001252 ORPHA:1970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001276 ORPHA:1970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001305 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0001821 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0002650 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0004374 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0006887 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0009882 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0010864 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0011039 ORPHA:1970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0000045 ORPHA:457083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0012741 ORPHA:457083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0032404 ORPHA:457083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0000023 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0000034 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0001748 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0008689 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0009714 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0010452 ORPHA:457083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0000036 ORPHA:457083 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0000837 ORPHA:457083 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0006254 ORPHA:457083 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:457083 Isolated splenogonadal fusion HP:0045040 ORPHA:457083 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001298 ORPHA:442835 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000750 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001249 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001250 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001263 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001265 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001290 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001508 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002376 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0010844 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0011443 ORPHA:442835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000252 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000348 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000494 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000508 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000639 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000668 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000708 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000717 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001251 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001257 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001268 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001273 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001315 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001336 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001337 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0001558 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002020 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002059 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002063 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002317 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002355 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002421 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002521 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0004305 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0004322 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0007018 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0011968 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0012444 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0012447 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0100660 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0100710 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000504 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000546 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000648 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002133 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0002509 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0012547 ORPHA:442835 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000160 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000271 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000347 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000444 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000765 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000767 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0000982 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001000 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0003758 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001072 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001371 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001387 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001595 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001763 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0001824 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0002216 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0002621 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0002814 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0002817 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0003119 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0004326 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0004349 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0008065 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0009125 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0010980 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0100578 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0100651 ORPHA:1979 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency HP:0100679 ORPHA:1979 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0000126 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0000316 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0000343 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0000365 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0000445 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0000490 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0000846 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0001249 ORPHA:251076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0001263 ORPHA:251076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0001629 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0001636 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0001642 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0001770 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0002463 ORPHA:251076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0002553 ORPHA:251076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0030680 ORPHA:251076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0012471 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251076 8p23.1 duplication syndrome HP:0100777 ORPHA:251076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0000272 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001028 ORPHA:52056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001156 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001510 ORPHA:52056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001631 ORPHA:52056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001762 ORPHA:52056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0001773 ORPHA:52056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0004322 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0006210 ORPHA:52056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0006492 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0006495 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome HP:0009237 ORPHA:52056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0002073 ORPHA:247815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0007002 ORPHA:247815 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0001256 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0001260 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0002070 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0002078 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0007240 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0007256 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0007772 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0008167 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0010965 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0100275 ORPHA:247815 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0001347 ORPHA:247815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0002457 ORPHA:247815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0005978 ORPHA:247815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0011499 ORPHA:247815 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0001761 ORPHA:247815 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0000657 ORPHA:247815 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:247815 Autosomal recessive ataxia due to PEX10 deficiency HP:0001263 ORPHA:247815 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000049 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000154 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000218 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000232 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000248 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000276 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000316 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000325 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000343 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000347 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000349 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000358 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000396 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000426 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000463 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000472 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000506 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000582 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000637 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0000974 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0001156 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0001773 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0002002 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0002007 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0002208 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0003196 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0004209 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0004322 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0005599 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0005692 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0006101 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0010807 ORPHA:1974 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0011359 ORPHA:1974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1974 Autosomal recessive faciodigitogenital syndrome HP:0200021 ORPHA:1974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000175 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000218 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000256 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000278 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000348 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000365 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000369 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000377 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000378 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000407 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000426 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000453 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000470 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000494 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000588 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000612 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000639 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000767 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0001249 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0001274 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0001629 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0001643 ORPHA:52055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0002650 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0004322 ORPHA:52055 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0002076 ORPHA:157835 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0002331 ORPHA:157835 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0000508 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0000613 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0002183 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0009926 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0012384 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0030953 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0031284 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0031417 ORPHA:157835 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0000616 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0000819 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0000822 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0002017 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0011161 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0012452 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0025258 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0030833 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0100540 ORPHA:157835 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0012199 ORPHA:157835 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:157835 Paroxysmal hemicrania HP:0100661 ORPHA:157835 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0003259 ORPHA:439232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0100957 ORPHA:439232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0000822 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0001917 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0012622 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0030843 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0030872 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0032613 ORPHA:439232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0000093 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0000096 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0000819 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0001639 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0001677 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0003077 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0003418 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0006510 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0011024 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0011713 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0031047 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0031546 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0032092 ORPHA:439232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0001688 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0002088 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0004381 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0004749 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0005110 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:439232 AApoAIV amyloidosis HP:0012309 ORPHA:439232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0000044 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001251 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001260 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001332 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001596 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001730 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001761 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001943 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0002342 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0005978 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0007108 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0007256 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0008734 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0008897 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0008994 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0030341 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0030344 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0040171 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0100287 ORPHA:453533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0001321 ORPHA:453533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0010627 ORPHA:453533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0011787 ORPHA:453533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453533 Polyendocrine-polyneuropathy syndrome HP:0040216 ORPHA:453533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome HP:0002762 ORPHA:1962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome HP:0004334 ORPHA:1962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome HP:0005863 ORPHA:1962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome HP:0008065 ORPHA:1962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome HP:0012733 ORPHA:1962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0002213 ORPHA:90368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0100038 ORPHA:90368 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0000962 ORPHA:90368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0001036 ORPHA:90368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0002209 ORPHA:90368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0002293 ORPHA:90368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0025092 ORPHA:90368 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0000989 ORPHA:90368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0001047 ORPHA:90368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0003193 ORPHA:90368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0003212 ORPHA:90368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0040189 ORPHA:90368 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0000164 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0000499 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0000534 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0001597 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0002550 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0004528 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0007550 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0100133 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90368 Hypotrichosis simplex of the scalp HP:0100134 ORPHA:90368 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001580 ORPHA:189439 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001050 ORPHA:189439 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0002920 ORPHA:189439 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0500011 ORPHA:189439 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000708 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000712 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000716 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000787 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000819 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000822 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000858 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000939 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000963 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000978 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001007 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001065 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001510 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001952 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0003077 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0003118 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0003466 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0003701 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0007126 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0007552 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0008221 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0012030 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0012743 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0025383 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0031845 ORPHA:189439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0000725 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001061 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001397 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0001596 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0002354 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0002659 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0002893 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0002910 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0004324 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0005585 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0005978 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0010619 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0010788 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0011672 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0030428 ORPHA:189439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0100543 ORPHA:189439 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:189439 Primary pigmented nodular adrenocortical disease HP:0100754 ORPHA:189439 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0005227 ORPHA:247806 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0003003 ORPHA:247806 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0004394 ORPHA:247806 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0004783 ORPHA:247806 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0002672 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0002885 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0002894 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0002895 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0003002 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0006744 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0006771 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0007649 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0008256 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0009592 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0010619 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0011068 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0011069 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0011459 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0012032 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0025388 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0030434 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0100244 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0100245 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0100246 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247806 APC-related attenuated familial adenomatous polyposis HP:0200040 ORPHA:247806 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000463 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000508 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000767 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000820 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000995 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0001555 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0001608 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0001633 ORPHA:1969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0002039 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0002650 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0002808 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0002970 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0003202 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0004122 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0004322 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0004326 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0006101 ORPHA:1969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0007513 ORPHA:1969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0007565 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0007703 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0010290 ORPHA:1969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000023 ORPHA:1968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000028 ORPHA:1968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000046 ORPHA:1968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000160 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000272 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000276 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000337 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000343 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000347 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000348 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000368 ORPHA:1968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000400 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000430 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000431 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000506 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0045075 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0000581 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0001611 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0002553 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0002650 ORPHA:1968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0002705 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0002714 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0003189 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0009738 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0009896 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0009906 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0009912 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0010669 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0010751 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0011830 ORPHA:1968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0012368 ORPHA:1968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1968 Flat face-microstomia-ear anomaly syndrome HP:0100490 ORPHA:1968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000027 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000028 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000044 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000135 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000218 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000252 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000286 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000316 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000347 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000458 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000482 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000556 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000581 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000582 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000612 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000639 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000864 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0000960 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0001249 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0001250 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0001263 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0001510 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0001631 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0001634 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0001643 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0001744 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0001762 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0001878 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0004322 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0004444 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0004467 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0005280 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0005815 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0008572 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0008736 ORPHA:251066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251066 8p11.2 deletion syndrome HP:0011968 ORPHA:251066 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0001075 ORPHA:79100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0004426 ORPHA:79100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0007515 ORPHA:79100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0011124 ORPHA:79100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0100276 ORPHA:79100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0000306 ORPHA:79100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0007502 ORPHA:79100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0045059 ORPHA:79100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0100277 ORPHA:79100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0000290 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0000464 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0000708 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0000989 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0001067 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0010783 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0012531 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79100 Atrophoderma vermiculata HP:0012722 ORPHA:79100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000708 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0001249 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0001250 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0001263 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002921 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0003080 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0003137 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0008358 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0012379 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0012402 ORPHA:79101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000750 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002154 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002197 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002317 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002360 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002922 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0003348 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0003394 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0003546 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0008326 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0011199 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0012432 ORPHA:79101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000083 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000496 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000511 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000597 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000716 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000718 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000729 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000736 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000738 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0000739 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0001284 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0001289 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0001298 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0001345 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002014 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002015 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002027 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002133 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002373 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002490 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0002936 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0003326 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0009088 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0009830 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0010819 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0011152 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0011342 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0011968 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79101 Hyperprolinemia type 2 HP:0012534 ORPHA:79101 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0000969 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0001903 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0002593 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0005387 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0012719 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0100766 ORPHA:90362 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0001510 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0001824 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0001888 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0002028 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0003073 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0003075 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0004313 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0011472 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0100508 ORPHA:90362 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0001281 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0001541 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0001698 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0002027 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0002202 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0002720 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0002850 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0002901 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0002917 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0003394 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0004315 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0007430 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0025624 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0030995 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0031686 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0031690 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0045080 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0100512 ORPHA:90362 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0032160 ORPHA:90362 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90362 Primary intestinal lymphangiectasia HP:0032215 ORPHA:90362 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0000836 ORPHA:79102 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0008153 ORPHA:79102 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0012726 ORPHA:79102 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0000975 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0001513 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0001962 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0002445 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0002917 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0003457 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0003470 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0003752 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0004303 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0007340 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0008180 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0008285 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0011784 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0011785 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0011786 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0012240 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0012364 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0100647 ORPHA:79102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0000016 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0001265 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0001337 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0001824 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0002019 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0003201 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0003394 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0003552 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0009020 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0011998 ORPHA:79102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0001657 ORPHA:79102 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0001663 ORPHA:79102 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0003694 ORPHA:79102 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0005165 ORPHA:79102 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0011706 ORPHA:79102 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0000597 ORPHA:79102 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0002153 ORPHA:79102 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0002203 ORPHA:79102 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0002486 ORPHA:79102 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0003134 ORPHA:79102 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79102 Thyrotoxic periodic paralysis HP:0006670 ORPHA:79102 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001004 ORPHA:90363 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0031686 ORPHA:90363 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0000969 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001888 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002024 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002028 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0003146 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0004788 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0011741 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0012378 ORPHA:90363 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001394 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001945 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002013 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002202 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002563 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002608 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002665 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002720 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002850 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002960 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0003073 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0004313 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0011848 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0011900 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0012050 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0012281 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0012537 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0031085 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0032064 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0032136 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0032387 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0100324 ORPHA:90363 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001708 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0001907 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002576 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002580 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002584 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0002719 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0005214 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90363 Secondary intestinal lymphangiectasia HP:0012191 ORPHA:90363 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0000252 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0000316 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0000347 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0000486 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0002750 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0004322 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0006682 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0006689 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0007400 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0007477 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0007598 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0009804 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0012722 ORPHA:1964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0000062 ORPHA:206484 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0000137 ORPHA:206484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0000149 ORPHA:206484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0001007 ORPHA:206484 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0002027 ORPHA:206484 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0003270 ORPHA:206484 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0008730 ORPHA:206484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0008723 ORPHA:206484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0008703 ORPHA:206484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0030088 ORPHA:206484 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206484 Gonadoblastoma HP:0100621 ORPHA:206484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0007359 ORPHA:1949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0011167 ORPHA:1949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0011188 ORPHA:1949 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0002104 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0002169 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0002266 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0010818 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0011154 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0032556 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0045084 ORPHA:1949 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0002020 ORPHA:1949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0008936 ORPHA:1949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0011171 ORPHA:1949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0011468 ORPHA:1949 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0002133 ORPHA:1949 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1949 Benign familial neonatal epilepsy HP:0031535 ORPHA:1949 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0000164 ORPHA:1951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0000343 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0000463 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0000524 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0001249 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0001250 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0002720 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0004313 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0004322 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1951 Epilepsy-telangiectasia syndrome HP:0009237 ORPHA:1951 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0008231 ORPHA:189427 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0002920 ORPHA:189427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0500011 ORPHA:189427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000712 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000716 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000787 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000822 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000858 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000939 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000978 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001007 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001050 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001065 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001952 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0003077 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0003118 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0003466 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0003701 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0007126 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0012030 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0012743 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0025383 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0031077 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0031845 ORPHA:189427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000725 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001061 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001397 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0001596 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0002354 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0002659 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0004324 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0100754 ORPHA:189427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0000859 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0002858 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0002893 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0005584 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0008200 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0100543 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia HP:0100634 ORPHA:189427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0000707 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0003281 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0004840 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0005505 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0012379 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0025498 ORPHA:48818 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0000546 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0000608 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0000819 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0001251 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0001260 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0001332 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0002066 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0002070 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0002072 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0004305 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0007703 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0010837 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0011967 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0012465 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0040303 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0100543 ORPHA:48818 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0000273 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0000473 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0000639 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0000643 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0000741 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0001300 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0001337 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0001635 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0002063 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0002304 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0002354 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0010994 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0012090 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0012179 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0012675 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0012696 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0100321 ORPHA:48818 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0001394 ORPHA:48818 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:48818 Aceruloplasminemia HP:0001395 ORPHA:48818 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0000347 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0000831 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0001397 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0002155 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0008193 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0008890 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0010620 ORPHA:436182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0000541 ORPHA:436182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome HP:0007875 ORPHA:436182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0001890 ORPHA:1959 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0001973 ORPHA:1959 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0000967 ORPHA:1959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0001904 ORPHA:1959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0000421 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0000952 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0000978 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0000980 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0001254 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0001324 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0002094 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0012378 ORPHA:1959 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1959 Evans syndrome HP:0001279 ORPHA:1959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0100570 ORPHA:100093 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0002574 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0004385 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0006722 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0006723 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0025474 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0030166 ORPHA:100093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0001708 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0001962 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0002017 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0002099 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0002730 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0002910 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0003144 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0005180 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0007380 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0009926 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0025428 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0030148 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0030445 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0031138 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0031417 ORPHA:100093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0002605 ORPHA:100093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0002668 ORPHA:100093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0003198 ORPHA:100093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0030145 ORPHA:100093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100093 Carcinoid syndrome HP:0030446 ORPHA:100093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000175 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000218 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000252 ORPHA:251056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000272 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000286 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000316 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000343 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000347 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000368 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000377 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000407 ORPHA:251056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000431 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000478 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000494 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000504 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0000582 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0001250 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0001252 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0001256 ORPHA:251056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0001263 ORPHA:251056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0001274 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0001319 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0001357 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0001508 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0001838 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0002119 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0030680 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0003241 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0004209 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0004322 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0012639 ORPHA:251056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251056 6q25 microdeletion syndrome HP:0100490 ORPHA:251056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0000324 ORPHA:1955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0000486 ORPHA:1955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0000639 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0000958 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0000966 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0001025 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0001260 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0001265 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0001288 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0002073 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0002075 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0002167 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0003011 ORPHA:1955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0012733 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0100022 ORPHA:1955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1955 Spinocerebellar ataxia type 34 HP:0200034 ORPHA:1955 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001875 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001923 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0003348 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0003648 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0005528 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0005561 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0032169 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0032653 ORPHA:699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000083 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000707 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001518 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001627 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001638 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001738 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001744 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001873 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001903 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002151 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002240 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002490 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0008897 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0012040 ORPHA:699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000093 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000365 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000508 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000518 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000580 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000602 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000819 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000821 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000824 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001250 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001251 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001252 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001263 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001392 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001397 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001399 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001510 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001789 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001876 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0001944 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002015 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002028 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002033 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002148 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002376 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002570 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002900 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002901 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002910 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0002917 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0003076 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0003128 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0008936 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0031546 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0032066 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0100732 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0200118 ORPHA:699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000107 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000252 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000639 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000829 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000846 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000953 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000957 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0000992 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0006270 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0006577 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:699 Pearson syndrome HP:0008501 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1954 Congenital lethal erythroderma HP:0000958 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1954 Congenital lethal erythroderma HP:0001025 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1954 Congenital lethal erythroderma HP:0001508 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1954 Congenital lethal erythroderma HP:0001522 ORPHA:1954 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:1954 Congenital lethal erythroderma HP:0002024 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1954 Congenital lethal erythroderma HP:0002093 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1954 Congenital lethal erythroderma HP:0003073 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1954 Congenital lethal erythroderma HP:0007381 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1954 Congenital lethal erythroderma HP:0008064 ORPHA:1954 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0002155 ORPHA:31150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0003146 ORPHA:31150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0000656 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0000958 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0001433 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0002027 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0002460 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0002730 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0003477 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0004943 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0005145 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0007133 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0008404 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0030814 ORPHA:31150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0001349 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0001712 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0001873 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0001903 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0003396 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0010829 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0007957 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31150 Tangier disease HP:0100546 ORPHA:31150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000164 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000175 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000405 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000407 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000501 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000541 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000559 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000572 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000592 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000939 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000974 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000977 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0000978 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0001119 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0001131 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0001166 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0001288 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0001319 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0001385 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0001634 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0001642 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0001763 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0001822 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0002650 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0002659 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0003326 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0005692 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0005930 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0009887 ORPHA:90354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0011003 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0012385 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0100689 ORPHA:90354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0100790 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90354 Brittle cornea syndrome HP:0200020 ORPHA:90354 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0000601 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0001643 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0002683 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0002970 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0003417 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0005716 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0006487 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0010655 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0011849 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0100670 ORPHA:1952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000164 ORPHA:576283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001249 ORPHA:576283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001263 ORPHA:576283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001999 ORPHA:576283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000175 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000219 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000319 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000324 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000343 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000347 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000490 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000504 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000708 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000729 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000924 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000938 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001344 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002307 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002342 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002360 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002500 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0007018 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0008872 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0008897 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0008947 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0010864 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0011304 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0012448 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0040082 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0410263 ORPHA:576283 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000193 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000218 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000486 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0000951 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001155 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001250 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001382 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001510 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001601 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0001773 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002015 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002020 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002465 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0002608 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0004209 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0011147 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0100559 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant HP:0100886 ORPHA:576283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0100574 ORPHA:100086 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0100634 ORPHA:100086 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0001046 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0001082 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0001541 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0001824 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0002018 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0002039 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0002574 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0002730 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0003270 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0005230 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0010638 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0012334 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0012432 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0030948 ORPHA:100086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0004375 ORPHA:100086 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100086 Gallbladder neuroendocrine tumor HP:0012658 ORPHA:100086 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0001762 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002061 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002194 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002395 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002751 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0003394 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0003698 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0007020 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0007210 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0008997 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0009046 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0009129 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0012473 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0012531 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0030051 ORPHA:496689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0001249 ORPHA:496689 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002015 ORPHA:496689 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0003487 ORPHA:496689 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0006380 ORPHA:496689 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0001272 ORPHA:496689 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0002059 ORPHA:496689 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0040081 ORPHA:496689 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000505 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000546 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001257 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001266 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001288 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001332 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002071 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002454 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002505 ORPHA:157850 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000496 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000510 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000580 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000662 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000708 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000938 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001260 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001268 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001300 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001927 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002063 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002451 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002483 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0007994 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0008181 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0009763 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0012045 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0012179 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002454 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0012678 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0031959 ORPHA:157850 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000618 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000619 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000648 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000712 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000716 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000722 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0000726 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001123 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001152 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001249 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001263 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001270 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001347 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001350 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002167 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0003084 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0007018 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0007132 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0009088 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0011504 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0011916 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0025402 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0031814 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0031937 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0032014 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0030051 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0100033 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0100710 ORPHA:157850 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001250 ORPHA:157850 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0001345 ORPHA:157850 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157850 Pantothenate kinase-associated neurodegeneration HP:0002080 ORPHA:157850 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0005227 ORPHA:454840 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0002858 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0003002 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0003003 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0008069 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0009725 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0012114 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0100743 ORPHA:454840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0000138 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0002671 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0002860 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0006725 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0006771 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0012539 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis HP:0031287 ORPHA:454840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000486 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000491 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000742 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001328 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0002188 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0002754 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0002757 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0007021 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0008000 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0010830 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0011344 ORPHA:453510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000324 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000347 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0000448 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001518 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001562 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001772 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001838 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0001999 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0002069 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0002982 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0008780 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0008947 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0009826 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0010841 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0011470 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0012044 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0012745 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability HP:0200020 ORPHA:453510 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0030746 ORPHA:169805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0100310 ORPHA:169805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0001892 ORPHA:169805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0003125 ORPHA:169805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0003645 ORPHA:169805 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0000225 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0001933 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0002829 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0005261 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0011889 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0012233 ORPHA:169805 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0000790 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0001376 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0001386 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0002170 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0002239 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0002315 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0003040 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0004846 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0006298 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0100309 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0100769 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0100773 ORPHA:169805 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0001250 ORPHA:169805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0003273 ORPHA:169805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:169805 Moderate hemophilia A HP:0007420 ORPHA:169805 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0011355 ORPHA:69745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0011368 ORPHA:69745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0031285 ORPHA:69745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0100792 ORPHA:69745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0000464 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0001965 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0025103 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0025512 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0030350 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0200016 ORPHA:69745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0031445 ORPHA:69745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0410340 ORPHA:69745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0001231 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0001892 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0006477 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0012881 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0030416 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0100648 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69745 Warty dyskeratoma HP:0100737 ORPHA:69745 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000486 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000508 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000519 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001181 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001252 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001270 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001348 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001511 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001635 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001680 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0002097 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0002110 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0002256 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0002650 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0002827 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0004969 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0005989 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0006698 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0007957 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0008897 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0010648 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0011220 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0011950 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0011968 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0012330 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001263 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0100512 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000122 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000729 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000938 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001762 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001763 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001884 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0002013 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0002645 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0002677 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0002816 ORPHA:90348 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000973 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000974 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001582 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0007522 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0025167 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0100678 ORPHA:90348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000023 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001388 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001653 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001659 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0001999 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0004942 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0007495 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0010674 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0100790 ORPHA:90348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000015 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000252 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000270 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000325 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000337 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000369 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000411 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001249 ORPHA:439218 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001263 ORPHA:439218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002500 ORPHA:439218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0010818 ORPHA:439218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0010851 ORPHA:439218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0200134 ORPHA:439218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0000980 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001041 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001250 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001252 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0001332 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002104 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002181 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002453 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002540 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0007015 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0011097 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0011968 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0012736 ORPHA:439218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002059 ORPHA:439218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002079 ORPHA:439218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439218 KCNQ2-related epileptic encephalopathy HP:0002521 ORPHA:439218 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000953 ORPHA:465508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0003281 ORPHA:465508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0011031 ORPHA:465508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0012463 ORPHA:465508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0002027 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0002240 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0003040 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0003074 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0003199 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0007574 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0012378 ORPHA:465508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000029 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000044 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000141 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000771 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000789 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000819 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000821 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000939 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001254 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001324 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001369 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001386 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001387 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001394 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001402 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001409 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001635 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001638 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001640 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001744 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0001824 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0002829 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0005198 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0009830 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0011911 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0030848 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0040171 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0100626 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0100639 ORPHA:465508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0000741 ORPHA:465508 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0011675 ORPHA:465508 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:465508 Symptomatic form of hemochromatosis type 1 HP:0030153 ORPHA:465508 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000973 ORPHA:90349 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001582 ORPHA:90349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002097 ORPHA:90349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0010750 ORPHA:90349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0025167 ORPHA:90349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0100679 ORPHA:90349 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000023 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000271 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001270 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001388 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001511 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001635 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001999 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002093 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002107 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002756 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0004426 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0004969 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0011004 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0030680 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0032153 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0045027 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0100790 ORPHA:90349 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000010 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000076 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000929 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002021 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002256 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002617 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002827 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0004381 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0006532 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0006698 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0008722 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0012330 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0012619 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0030872 ORPHA:90349 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001249 ORPHA:90349 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000252 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000260 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000270 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000494 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0000518 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0001332 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0002011 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90349 Autosomal recessive cutis laxa type 1 HP:0003510 ORPHA:90349 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0003125 ORPHA:169802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0003645 ORPHA:169802 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0000421 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0000978 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0001058 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0001386 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0001934 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0004846 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0005261 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0030140 ORPHA:169802 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0000132 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0001376 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0001903 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0002170 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0002239 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0002315 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0002829 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0003121 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0005187 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0008330 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0012233 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0012541 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0012587 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0030137 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0100309 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0100310 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:169802 Severe hemophilia A HP:0100769 ORPHA:169802 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0000252 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0001007 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0001249 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0001250 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0000280 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0002650 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0002750 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000078 ORPHA:251046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000126 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000174 ORPHA:251046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000238 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000286 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000365 ORPHA:251046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000369 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000396 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000470 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000486 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000490 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000601 ORPHA:251046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0000929 ORPHA:251046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0001252 ORPHA:251046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0001256 ORPHA:251046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0001582 ORPHA:251046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0001643 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0006101 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0012639 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0030084 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251046 6p22 microdeletion syndrome HP:0100790 ORPHA:251046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0100570 ORPHA:100082 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0001824 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002019 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002027 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002039 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002240 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002573 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002730 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002910 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0012702 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0025085 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0030144 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0030446 ORPHA:100082 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0001708 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0001962 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002249 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0002615 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0003144 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0004385 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0005180 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0007380 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0012701 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0025428 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0030145 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100082 Neuroendocrine tumor of anal canal HP:0031566 ORPHA:100082 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0100605 ORPHA:100083 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0100634 ORPHA:100083 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0001618 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0001824 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0002039 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0002730 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0002875 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0003144 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0003528 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0012432 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0200136 ORPHA:100083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0011749 ORPHA:100083 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0031029 ORPHA:100083 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100083 Laryngeal neuroendocrine tumor HP:0031218 ORPHA:100083 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0011471 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0012690 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0030890 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000505 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0001249 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0001250 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0001272 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002540 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0003204 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0003657 ORPHA:1947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000529 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000543 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000550 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000750 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0001251 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002059 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002066 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002123 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002167 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002312 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002317 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002333 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002371 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002510 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0003205 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0003208 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0003698 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0005268 ORPHA:1947 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0011198 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0011203 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0030455 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0033044 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0100543 ORPHA:1947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000708 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000726 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0000729 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0001263 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002015 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002359 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0002384 ORPHA:1947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0000238 ORPHA:1946 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0000966 ORPHA:1946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0001250 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0001257 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0001268 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0002353 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0002376 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0004322 ORPHA:1946 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0006286 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0011073 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0000682 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0000705 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0000726 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1946 Amelocerebrohypohidrotic syndrome HP:0010864 ORPHA:1946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0100570 ORPHA:100084 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0100634 ORPHA:100084 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0040119 ORPHA:100084 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0040090 ORPHA:100084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0000360 ORPHA:100084 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0000372 ORPHA:100084 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0000407 ORPHA:100084 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0002730 ORPHA:100084 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0002028 ORPHA:100084 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0002315 ORPHA:100084 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100084 Middle ear neuroendocrine tumor HP:0010628 ORPHA:100084 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000112 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000217 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000488 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000491 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000501 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000518 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000572 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000587 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000610 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000613 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000822 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000953 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000958 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0000988 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0001094 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0001291 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0001376 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0001386 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0001392 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0001701 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0001744 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0001903 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0001945 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0002092 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0002094 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0002716 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0002829 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0003774 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0004942 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0005310 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0005764 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0006770 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0008046 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0008064 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0010286 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0010628 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0010783 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0012123 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0012219 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0012647 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0100490 ORPHA:90340 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0100654 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0100769 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0200034 ORPHA:90340 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90340 Blau syndrome HP:0200042 ORPHA:90340 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0000508 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001046 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0004375 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0005230 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002896 ORPHA:100085 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0100634 ORPHA:100085 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001541 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001824 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002014 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002018 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002039 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002094 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002240 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002574 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002730 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002910 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0003270 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0012432 ORPHA:100085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001407 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001708 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0001962 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0002480 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0003144 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0007380 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0025428 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0025474 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0030148 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0030166 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0100570 ORPHA:100085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0006575 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0007663 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0010638 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0012658 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0030948 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0100012 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0100526 ORPHA:100085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0006254 ORPHA:100085 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100085 Primary hepatic neuroendocrine carcinoma HP:0031029 ORPHA:100085 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0012557 ORPHA:1945 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0002307 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0007332 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0007334 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0009088 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0010535 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0025425 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0007359 ORPHA:1945 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0000716 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0000736 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0000739 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0001328 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0000712 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0002076 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0002373 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0003401 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0006889 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0007018 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0012534 ORPHA:1945 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0001326 ORPHA:1945 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1945 Rolandic epilepsy HP:0007270 ORPHA:1945 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0000491 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0000613 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0000953 ORPHA:90342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0000958 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0000992 ORPHA:90342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0001009 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0001010 ORPHA:90342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0001029 ORPHA:90342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0002671 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0002860 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0002861 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0004334 ORPHA:90342 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90342 Xeroderma pigmentosum variant HP:0007603 ORPHA:90342 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0100570 ORPHA:100080 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0001824 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0002027 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0002039 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0002240 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0002730 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0025085 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0030144 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0030446 ORPHA:100080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0001708 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0001962 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0002249 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0002615 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0002910 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0003144 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0004385 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0005180 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0007380 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0012701 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0025428 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0030145 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100080 Neuroendocrine tumor of the colon HP:0031566 ORPHA:100080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0011170 ORPHA:1942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0011197 ORPHA:1942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000752 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0001249 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0002121 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0002123 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0002332 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0002392 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0007018 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0010819 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0025190 ORPHA:1942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000729 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000735 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0001251 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0001326 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0001337 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0010845 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0011171 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0011182 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0100851 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0410263 ORPHA:1942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000154 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000179 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000219 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000252 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000289 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000343 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000431 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000463 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000568 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000750 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0001159 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0001252 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0001263 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0001999 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0002292 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0002317 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0007256 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0007359 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0009928 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0011220 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0100678 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0200134 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0011097 ORPHA:1942 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1941 Juvenile absence epilepsy HP:0002069 ORPHA:1941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1941 Juvenile absence epilepsy HP:0002197 ORPHA:1941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1941 Juvenile absence epilepsy HP:0002392 ORPHA:1941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1941 Juvenile absence epilepsy HP:0000153 ORPHA:1941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1941 Juvenile absence epilepsy HP:0000496 ORPHA:1941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1941 Juvenile absence epilepsy HP:0002121 ORPHA:1941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1941 Juvenile absence epilepsy HP:0002373 ORPHA:1941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1941 Juvenile absence epilepsy HP:0001336 ORPHA:1941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0100570 ORPHA:100081 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0001824 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002019 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002027 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002039 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002573 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0012702 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0025085 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0030144 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0030446 ORPHA:100081 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002240 ORPHA:100081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002249 ORPHA:100081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002730 ORPHA:100081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002910 ORPHA:100081 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0001708 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0001962 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0002615 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0003144 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0004385 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0005180 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0007380 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0012701 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0025428 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0030145 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100081 Neuroendocrine tumor of the rectum HP:0031566 ORPHA:100081 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0006723 ORPHA:100079 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002017 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002574 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0004396 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0005249 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0010676 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0011848 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0012701 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0030142 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0030144 ORPHA:100079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002019 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002039 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002240 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002730 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002910 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0003148 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0004385 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0030412 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0040276 ORPHA:100079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0001579 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0001962 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002099 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0002615 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0003144 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0005211 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0010446 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0011749 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0030148 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0031499 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100079 Neuroendocrine neoplasm of appendix HP:0100615 ORPHA:100079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0001394 ORPHA:57777 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0001657 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0003546 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0005185 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0012664 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0025168 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0031138 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0500018 ORPHA:57777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0001635 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0001640 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0001712 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0002240 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0004890 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0012398 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0020182 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0025406 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0030718 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0030973 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0031185 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0031295 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0032205 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0100598 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0410173 ORPHA:57777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0000952 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0001541 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0001892 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0004308 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0011675 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0030848 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0030955 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0031658 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0031659 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57777 Cirrhotic cardiomyopathy HP:0032106 ORPHA:57777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0100570 ORPHA:100075 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0001824 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0001891 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002017 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002039 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002254 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002574 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0004396 ORPHA:100075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0001005 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002044 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002240 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002248 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002249 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002730 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002910 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0025085 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0030145 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0030446 ORPHA:100075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0001399 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0001708 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0001962 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002615 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0002668 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0003144 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0003154 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0004385 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0005180 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0007380 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0012701 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0025428 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0030149 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100075 Neuroendocrine tumor of stomach HP:0031566 ORPHA:100075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0006723 ORPHA:100076 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002574 ORPHA:100076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002716 ORPHA:100076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0001005 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0001891 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002018 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002044 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002254 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002572 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002910 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0003148 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0006575 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0012334 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0100819 ORPHA:100076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0000126 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0000845 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0000969 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0001399 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0001642 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0001708 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0001899 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0001962 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002248 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002249 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002615 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0002668 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0003154 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0004796 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0005249 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0010446 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0011675 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0012197 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0025428 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0030149 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100076 Duodenal neuroendocrine tumor HP:0030404 ORPHA:100076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0004302 ORPHA:1929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0007359 ORPHA:1929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0001269 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002119 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002349 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002384 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002960 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0004305 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0011153 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0011193 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0011195 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0012157 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0012847 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0032665 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0100308 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0100543 ORPHA:1929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0000572 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0000708 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0000712 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0000737 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0000752 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0001260 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0001328 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002134 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002354 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002381 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002540 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002921 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002922 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0003493 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0007018 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0007334 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0010818 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0011163 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0011182 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0011185 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0012708 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0020151 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0025190 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0031491 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0031535 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0032005 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0032046 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0100660 ORPHA:1929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0002283 ORPHA:1929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0003460 ORPHA:1929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0011097 ORPHA:1929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1929 Rasmussen subacute encephalitis HP:0032661 ORPHA:1929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1928 Congenital lobar emphysema HP:0002097 ORPHA:1928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1928 Congenital lobar emphysema HP:0002098 ORPHA:1928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1928 Congenital lobar emphysema HP:0010978 ORPHA:1928 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0006722 ORPHA:100077 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0001005 ORPHA:100077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0002254 ORPHA:100077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0002574 ORPHA:100077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0003144 ORPHA:100077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0001824 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0001891 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0002018 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0002572 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0002716 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0002910 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0003148 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0004796 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0005249 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0012334 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0012432 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0025324 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0030142 ORPHA:100077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0100819 ORPHA:100077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0000126 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0000969 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0001399 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0001642 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0001708 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0001962 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0002044 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0025426 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0002615 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0010446 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0011675 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100077 Jejunal neuroendocrine tumor HP:0030149 ORPHA:100077 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0000218 ORPHA:1927 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0000343 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0000348 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0001156 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0001172 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0001319 ORPHA:1927 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0002162 ORPHA:1927 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0005280 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0006070 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0009626 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0012368 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1927 Emery-Nelson syndrome HP:0100490 ORPHA:1927 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0001962 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0002044 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0025426 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0002615 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0010446 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0011675 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0030149 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0006722 ORPHA:100078 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0001005 ORPHA:100078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0002254 ORPHA:100078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0002574 ORPHA:100078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0003144 ORPHA:100078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0001824 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0001891 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0002018 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0002572 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0002716 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0002910 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0003148 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0004796 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0005249 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0012334 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0012432 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0025324 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0030142 ORPHA:100078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0100819 ORPHA:100078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0000126 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0000969 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0001399 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0001642 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100078 Ileal neuroendocrine tumor HP:0001708 ORPHA:100078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0001332 ORPHA:157846 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002134 ORPHA:157846 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0012343 ORPHA:157846 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0012675 ORPHA:157846 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0100543 ORPHA:157846 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0000338 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0000712 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0001260 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0001618 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002015 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002067 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002072 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002310 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002339 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002355 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0004305 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0004373 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002454 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0012678 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0012690 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0012696 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0031959 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0031982 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0100321 ORPHA:157846 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0000643 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0001300 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0001348 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0001621 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0001686 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002340 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002356 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002395 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0007350 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0007772 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0010530 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0031960 ORPHA:157846 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0000709 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0000727 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002322 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0002922 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0003487 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0007123 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157846 Neuroferritinopathy HP:0025331 ORPHA:157846 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0001284 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0002385 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0003477 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0006858 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0011868 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0012531 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0025459 ORPHA:231445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0011096 ORPHA:231445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0011948 ORPHA:231445 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome HP:0002839 ORPHA:231445 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0000657 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0000664 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0000666 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0000750 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001260 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001263 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001310 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001320 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001332 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001350 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002066 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002078 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002080 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002312 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002317 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002342 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002359 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0002470 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0003487 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0008947 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0009617 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0031435 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0040196 ORPHA:453521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0001274 ORPHA:453521 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000164 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000175 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000218 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000239 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000252 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000256 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000348 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000365 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000369 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000431 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000470 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000494 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000518 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000526 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000568 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000612 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0000647 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0001249 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0001250 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0001252 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0001263 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0001363 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0001513 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0001629 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0001770 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0001836 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0001852 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0002002 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0004397 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251038 3q29 microduplication syndrome HP:0004422 ORPHA:251038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1937 Eng-Strom syndrome HP:0000767 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1937 Eng-Strom syndrome HP:0001156 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1937 Eng-Strom syndrome HP:0001369 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1937 Eng-Strom syndrome HP:0001511 ORPHA:1937 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1937 Eng-Strom syndrome HP:0001629 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1937 Eng-Strom syndrome HP:0001671 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1937 Eng-Strom syndrome HP:0002650 ORPHA:1937 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1937 Eng-Strom syndrome HP:0004322 ORPHA:1937 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1937 Eng-Strom syndrome HP:0100490 ORPHA:1937 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:57782 Mazabraud syndrome HP:0000924 ORPHA:57782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57782 Mazabraud syndrome HP:0002652 ORPHA:57782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57782 Mazabraud syndrome HP:0002653 ORPHA:57782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57782 Mazabraud syndrome HP:0002757 ORPHA:57782 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:57782 Mazabraud syndrome HP:0010734 ORPHA:57782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0000763 ORPHA:100073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0000772 ORPHA:100073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0001324 ORPHA:100073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0002829 ORPHA:100073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0003326 ORPHA:100073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0003401 ORPHA:100073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0003457 ORPHA:100073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100073 Neurogenic thoracic outlet syndrome HP:0012534 ORPHA:100073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0001336 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0002123 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0002353 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0011153 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0011168 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0012469 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0200134 ORPHA:1935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0001252 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0001254 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0001263 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0001347 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0002015 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0002033 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0002205 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0011167 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0011968 ORPHA:1935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1935 Early myoclonic encephalopathy HP:0002521 ORPHA:1935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001250 ORPHA:1934 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001249 ORPHA:1934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001263 ORPHA:1934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002353 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002360 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002421 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002521 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0008947 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0010851 ORPHA:1934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000729 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000752 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001257 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001266 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001272 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001302 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001336 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001337 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002069 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002079 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002121 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002131 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002373 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002376 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0002506 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0007204 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0010818 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0010819 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0010850 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0011169 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0011190 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0012448 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0012469 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0007359 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0100660 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0100716 ORPHA:1934 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000054 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000070 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000110 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000175 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000252 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000340 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000463 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000486 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000826 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001332 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001500 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001508 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001537 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0001629 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0005280 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0009381 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0010174 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0012554 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000252 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000407 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000505 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000508 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000512 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000649 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000708 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000762 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0001250 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0001251 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0001263 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0001265 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0002119 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0002194 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0002230 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0002514 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0003202 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0003236 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0003355 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0004322 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0004326 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0006887 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0012120 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0000238 ORPHA:1931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0000256 ORPHA:1931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0000268 ORPHA:1931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0000316 ORPHA:1931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0001250 ORPHA:1931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0001362 ORPHA:1931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0002084 ORPHA:1931 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0002414 ORPHA:1931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0002415 ORPHA:1931 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0002514 ORPHA:1931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1931 Frontal encephalocele HP:0007370 ORPHA:1931 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0000474 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0000708 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0000711 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0000716 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0000739 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0000751 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0001268 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0001297 ORPHA:100070 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0001300 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002071 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002145 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002185 ORPHA:100070 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002186 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002300 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002354 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002381 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002366 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002381 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002427 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002446 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0002500 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0006892 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0006977 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0007112 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0010523 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0010526 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0011204 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0030223 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0012658 ORPHA:100070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0030391 ORPHA:100070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0030692 ORPHA:100070 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0100256 ORPHA:100070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100070 Progressive non-fluent aphasia HP:0100315 ORPHA:100070 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002353 ORPHA:1930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0004372 ORPHA:1930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0012443 ORPHA:1930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0200149 ORPHA:1930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0001250 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0001945 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0001974 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002017 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002167 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002315 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002902 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002922 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0004887 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0007185 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0011897 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0012378 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0031179 ORPHA:1930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0001259 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0001262 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0001347 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002133 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002181 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002349 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002384 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0002721 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0004302 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0011227 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0011972 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0025143 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1930 Herpes simplex virus encephalitis HP:0030955 ORPHA:1930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0001903 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0001919 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0001945 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0002011 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0002017 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0002315 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0011227 ORPHA:673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0001871 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0001873 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0002098 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0002141 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0002904 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0003326 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0004372 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0100543 ORPHA:673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:673 Malaria HP:0000488 ORPHA:673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0002444 ORPHA:672 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000110 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000191 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000193 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000256 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000316 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000368 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000413 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000457 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000463 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000494 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001263 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001273 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001321 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001360 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001520 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001537 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001629 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001631 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001643 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001680 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001837 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001845 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0002101 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0005990 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0006695 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0007601 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0008207 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0008734 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0010564 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0010821 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0012165 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0030021 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0410030 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000046 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000062 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000243 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001249 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001562 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001883 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0002093 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0002139 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0005684 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0008684 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0010958 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0011026 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0030010 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0030431 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0030799 ORPHA:672 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000508 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000568 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000695 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000902 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001156 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001162 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001511 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0001770 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0002023 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0002164 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0002652 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0002827 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0002937 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0002986 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0003048 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0003196 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0004322 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0005917 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0006136 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0008213 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0008240 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0008245 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0008551 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0008751 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0009958 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0009971 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0010044 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0011304 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0011734 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0011748 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0011939 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0012751 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0040075 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0040086 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0100260 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0200117 ORPHA:672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000023 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000028 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000047 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000054 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000086 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000122 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000171 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000175 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000273 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000308 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000453 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000749 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000826 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000835 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:672 Pallister-Hall syndrome HP:0000871 ORPHA:672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100069 Semantic dementia HP:0000726 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100069 Semantic dementia HP:0002381 ORPHA:100069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100069 Semantic dementia HP:0012444 ORPHA:100069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100069 Semantic dementia HP:0030222 ORPHA:100069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100069 Semantic dementia HP:0030784 ORPHA:100069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100069 Semantic dementia HP:0002167 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100069 Semantic dementia HP:0010522 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100069 Semantic dementia HP:0010523 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100069 Semantic dementia HP:0010526 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100069 Semantic dementia HP:0012671 ORPHA:100069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:675 Annular pancreas HP:0001734 ORPHA:675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:675 Annular pancreas HP:0005250 ORPHA:675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:675 Annular pancreas HP:0100867 ORPHA:675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0000286 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0000303 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0000316 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0000369 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0001156 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0001249 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0001263 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0008386 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0012808 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0100333 ORPHA:1919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0000047 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0000252 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0000272 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0001633 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0001636 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1919 Phenobarbital embryopathy HP:0006265 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1918 Fetal minoxidil syndrome HP:0000028 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1918 Fetal minoxidil syndrome HP:0000347 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1918 Fetal minoxidil syndrome HP:0000368 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1918 Fetal minoxidil syndrome HP:0001537 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1918 Fetal minoxidil syndrome HP:0001629 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1918 Fetal minoxidil syndrome HP:0002230 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1918 Fetal minoxidil syndrome HP:0004209 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1918 Fetal minoxidil syndrome HP:0005280 ORPHA:1918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1917 Fetal methylmercury syndrome HP:0000252 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1917 Fetal methylmercury syndrome HP:0000365 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1917 Fetal methylmercury syndrome HP:0000505 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1917 Fetal methylmercury syndrome HP:0001252 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1917 Fetal methylmercury syndrome HP:0004322 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0000013 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0000028 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0000035 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0000047 ORPHA:1916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0000054 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0000130 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0000868 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0001518 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0001622 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0002861 ORPHA:1916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0003002 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0002871 ORPHA:1916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0008209 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0008715 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0012243 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0030424 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1916 Diethylstilbestrol syndrome HP:0100650 ORPHA:1916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324723 ABeta amyloidosis, Arctic type HP:0000708 ORPHA:324723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324723 ABeta amyloidosis, Arctic type HP:0002373 ORPHA:324723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0001347 ORPHA:320365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0002061 ORPHA:320365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0002064 ORPHA:320365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0003487 ORPHA:320365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0007020 ORPHA:320365 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0000012 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0000020 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0002460 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0003701 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0006858 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0006886 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0006937 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0007220 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0010829 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0011402 ORPHA:320365 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0000486 ORPHA:320365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0001369 ORPHA:320365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0001761 ORPHA:320365 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0000726 ORPHA:320365 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:320365 Autosomal dominant spastic paraplegia type 36 HP:0012747 ORPHA:320365 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001644 ORPHA:300751 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0031546 ORPHA:300751 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001279 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001637 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001645 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0005110 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0005162 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0009125 ORPHA:300751 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001635 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001698 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0003560 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0004308 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0004749 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0004755 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0012722 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0012723 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0031409 ORPHA:300751 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0000163 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0000708 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0001369 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0001744 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0001824 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0002017 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0002024 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0002027 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0002076 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0002240 ORPHA:42642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0002383 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0002716 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0002829 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0004370 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0012378 ORPHA:42642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42642 PFAPA syndrome HP:0100776 ORPHA:42642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000343 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000356 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000369 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000444 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000445 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001263 ORPHA:251028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001344 ORPHA:251028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000164 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000175 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000218 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000252 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000347 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000348 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000426 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000540 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000708 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000718 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001252 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001776 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001999 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002307 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0008070 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0008734 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0008872 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0010864 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0011220 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0011344 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0011470 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000028 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000054 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000160 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000201 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000256 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000275 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000276 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000322 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000324 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000470 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000478 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000490 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000494 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000589 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000620 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000678 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000689 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000691 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000711 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000742 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000938 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001238 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001250 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001276 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000712 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001629 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001762 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0001773 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002007 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002011 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002061 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002136 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002213 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002591 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002659 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002761 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002815 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002870 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002938 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0002982 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0003196 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0003241 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0003272 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0004209 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0004482 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0005469 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0006349 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0008897 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0010055 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0011304 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0011339 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0012428 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0020045 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0200055 ORPHA:251028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0002166 ORPHA:320360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0007020 ORPHA:320360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0012514 ORPHA:320360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0001347 ORPHA:320360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0002061 ORPHA:320360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0002355 ORPHA:320360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0003477 ORPHA:320360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0009053 ORPHA:320360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0000819 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0001317 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0001638 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0003487 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0005115 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0007256 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0008969 ORPHA:320360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0000648 ORPHA:320360 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:320360 MT-ATP6-related mitochondrial spastic paraplegia HP:0002151 ORPHA:320360 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000044 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000219 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000252 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000316 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000343 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000403 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000430 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000446 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000556 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000637 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0000964 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0001156 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0001290 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0001433 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0001511 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0001795 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0001831 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0001880 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0002079 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0002342 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0002655 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0002656 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0002714 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0002716 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0003273 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0004209 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0004313 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0004322 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0004625 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0005041 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0006532 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0007598 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0008804 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0008828 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0008897 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0011231 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0410170 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0012817 ORPHA:353298 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353298 Roifman syndrome HP:0005419 ORPHA:353298 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000008 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000028 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000054 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000073 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000098 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000126 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000175 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000238 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000252 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000347 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000365 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000368 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000464 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0000707 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0001195 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0001629 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0001636 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0001669 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0001679 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0001732 ORPHA:1926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0002007 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0030680 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0003422 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0004414 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0005107 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0007360 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0007370 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0008056 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0008551 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0008678 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0010301 ORPHA:1926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1926 Diabetic embryopathy HP:0010318 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0000047 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0000453 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0000820 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0000821 ORPHA:1923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0001362 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0001511 ORPHA:1923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0001561 ORPHA:1923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0001629 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0001679 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0001680 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0002032 ORPHA:1923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0002575 ORPHA:1923 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1923 Methimazole embryofetopathy HP:0100589 ORPHA:1923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000023 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000164 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] 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ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000592 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000670 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000682 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000703 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000767 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000768 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000772 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000774 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000883 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000938 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000939 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000944 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000975 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001288 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001511 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001537 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001873 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0030680 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002645 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002650 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002757 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002808 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002823 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002857 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002980 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002983 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002992 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0003100 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0003103 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0003179 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0003272 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0003312 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0004306 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0004322 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0004331 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0004586 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0005019 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0005692 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0006487 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0007957 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0011073 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0100761 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0011314 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0004942 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002647 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001659 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002616 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0005294 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002829 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001251 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0012366 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002653 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002512 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000978 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0030267 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001342 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002947 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002019 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0006824 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] 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ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000238 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002150 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0030268 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002659 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0005214 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001382 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002505 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001634 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000410 ORPHA:666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002011 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0006640 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002643 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000787 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0010953 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0000639 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002758 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0003401 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001730 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002089 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0004482 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0008905 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0003474 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0001518 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0003396 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002273 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0005257 ORPHA:666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0100661 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002119 ORPHA:666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:666 Osteogenesis imperfecta HP:0002953 ORPHA:666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001723 ORPHA:75566 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001880 ORPHA:75566 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001977 ORPHA:75566 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0031323 ORPHA:75566 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001635 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001654 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001712 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001824 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001962 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0002094 ORPHA:75566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] 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P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0012735 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0025523 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0031295 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0031442 ORPHA:75566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001650 ORPHA:75566 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001659 ORPHA:75566 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75566 Loeffler endocarditis HP:0001701 ORPHA:75566 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002172 ORPHA:75567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002355 ORPHA:75567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002359 ORPHA:75567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0000822 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0001347 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002063 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002067 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002167 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002169 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002174 ORPHA:75567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0000020 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0000726 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0000763 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002015 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002120 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002141 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0002362 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0003487 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0007772 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0012452 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75567 Primary progressive freezing gait HP:0100315 ORPHA:75567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0000028 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0000126 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0000233 ORPHA:1920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0000252 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0000286 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0000319 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0000347 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0000369 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0000411 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0000486 ORPHA:1920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0001182 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0001252 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0001263 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0001347 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0002167 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0003196 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0004322 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0004422 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0007477 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0010669 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0012745 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1920 Toluene embryopathy HP:0100542 ORPHA:1920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0002797 ORPHA:668 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0006489 ORPHA:668 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0000944 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0001386 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0003155 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0006491 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0012531 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0025435 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0045040 ORPHA:668 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0001824 ORPHA:668 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0001945 ORPHA:668 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:668 Osteosarcoma HP:0002756 ORPHA:668 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0004828 ORPHA:75564 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0010972 ORPHA:75564 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0000980 ORPHA:75564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001895 ORPHA:75564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001897 ORPHA:75564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0012132 ORPHA:75564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0200143 ORPHA:75564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001231 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001744 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001873 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001931 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0002240 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0002863 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0011447 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0012136 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0012137 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0012143 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0031035 ORPHA:75564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001635 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001875 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001876 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001892 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001894 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001913 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0001974 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0004808 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0005513 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75564 Acquired idiopathic sideroblastic anemia HP:0005528 ORPHA:75564 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000107 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000121 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000518 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001875 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0003535 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0011451 ORPHA:445038 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001249 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001252 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001257 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001266 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001272 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001298 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001336 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001347 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001510 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002059 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002071 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002134 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002151 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002179 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002194 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002376 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0005528 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0007153 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0007256 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0011968 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0410256 ORPHA:445038 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000083 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000639 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0000821 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001250 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001276 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001397 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001638 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0001998 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002878 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002910 ORPHA:445038 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445038 3-methylglutaconic aciduria type 7 HP:0002107 ORPHA:445038 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000238 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000256 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000365 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000388 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000505 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000639 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000649 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000684 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000772 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000774 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000944 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000978 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0000980 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001337 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001363 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001510 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001641 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001744 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001903 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0001939 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002092 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002104 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002148 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002205 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002240 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002257 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002653 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002716 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002757 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0002901 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0004349 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0004370 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0004415 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0005930 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0006323 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0006487 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0006824 ORPHA:667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0007807 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0008066 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0010543 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0010719 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0011002 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:667 Autosomal recessive malignant osteopetrosis HP:0100022 ORPHA:667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0006685 ORPHA:75565 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0001723 ORPHA:75565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0002094 ORPHA:75565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0003115 ORPHA:75565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0012378 ORPHA:75565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0001541 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0001640 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0001678 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0001945 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0002240 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0003073 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0004326 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0004395 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0006677 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0011675 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0011712 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0011713 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0012249 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0012398 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0012764 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0025077 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0025168 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0030950 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0031295 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0031664 ORPHA:75565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0000520 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0001653 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0001744 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0001880 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0001907 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0004749 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0004755 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0005110 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0005135 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0005180 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0006690 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0010741 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0011663 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0012664 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0030057 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0030149 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0030783 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0030848 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0031595 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0031650 ORPHA:75565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0005145 ORPHA:75565 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:75565 Tropical endomyocardial fibrosis HP:0031601 ORPHA:75565 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0000112 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0000246 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0001004 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0001231 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0001806 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0002092 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0002094 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0002102 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0002110 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0002205 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0002664 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0002721 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0003759 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0008388 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0009726 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0011354 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0011367 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0012384 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0012735 ORPHA:662 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0100242 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0100526 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0100574 ORPHA:662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0100797 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:662 Yellow nail syndrome HP:0100798 ORPHA:662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0100665 ORPHA:100057 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0000282 ORPHA:100057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0025018 ORPHA:100057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0002098 ORPHA:100057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0031244 ORPHA:100057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0040315 ORPHA:100057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0100540 ORPHA:100057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0002781 ORPHA:100057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0010783 ORPHA:100057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0011855 ORPHA:100057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0012027 ORPHA:100057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0000989 ORPHA:100057 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0001025 ORPHA:100057 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:661 Congenital central hypoventilation syndrome HP:0001250 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:661 Congenital central hypoventilation syndrome HP:0001252 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:661 Congenital central hypoventilation syndrome HP:0002093 ORPHA:661 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:661 Congenital central hypoventilation syndrome HP:0002251 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:661 Congenital central hypoventilation syndrome HP:0002270 ORPHA:661 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:661 Congenital central hypoventilation syndrome HP:0003005 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:661 Congenital central hypoventilation syndrome HP:0003006 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:661 Congenital central hypoventilation syndrome HP:0006747 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:661 Congenital central hypoventilation syndrome HP:0100006 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:661 Congenital central hypoventilation syndrome HP:0100543 ORPHA:661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0010702 ORPHA:449400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0032300 ORPHA:449400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0001824 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0001945 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0002027 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0002099 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0002960 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0003212 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0003419 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0003493 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0003565 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0011227 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0012393 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0012649 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0012727 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0032061 ORPHA:449400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0000126 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0002647 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0004431 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0004970 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0005214 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0012303 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0031252 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0032230 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449400 IgG4-related aortitis HP:0430021 ORPHA:449400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:664 Ornithine transcarbamylase deficiency HP:0001399 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:664 Ornithine transcarbamylase deficiency HP:0001744 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:664 Ornithine transcarbamylase deficiency HP:0001943 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:664 Ornithine transcarbamylase deficiency HP:0001987 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:664 Ornithine transcarbamylase deficiency HP:0002021 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:664 Ornithine transcarbamylase deficiency HP:0003355 ORPHA:664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0000003 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0000083 ORPHA:1909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0000091 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0000112 ORPHA:1909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0001562 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0001622 ORPHA:1909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0001629 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0001631 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0001638 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0001789 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0001928 ORPHA:1909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1909 Indomethacin embryofetopathy HP:0002093 ORPHA:1909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281122 Self-improving collodion baby HP:0001376 ORPHA:281122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281122 Self-improving collodion baby HP:0008064 ORPHA:281122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000590 ORPHA:663 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0003800 ORPHA:663 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000508 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000821 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0001348 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0002091 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0002151 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0002747 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0003200 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0003327 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0003457 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0008180 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0008316 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0009073 ORPHA:663 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000716 ORPHA:663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0001256 ORPHA:663 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000651 ORPHA:663 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000175 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000238 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000252 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000303 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000316 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000368 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000431 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000520 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001231 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001360 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001511 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000286 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000347 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001629 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001636 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001696 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001792 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0001883 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0002084 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0002323 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0002435 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0002652 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0002983 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0003027 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0004322 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0004935 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0006101 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0007360 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0007370 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0009601 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0009891 ORPHA:1908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0010301 ORPHA:1908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0100335 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:281127 Acral self-healing collodion baby HP:0007514 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281127 Acral self-healing collodion baby HP:0007559 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281127 Acral self-healing collodion baby HP:0010783 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281127 Acral self-healing collodion baby HP:0012098 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281127 Acral self-healing collodion baby HP:0025524 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281127 Acral self-healing collodion baby HP:0100679 ORPHA:281127 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002922 ORPHA:206443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0012379 ORPHA:206443 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000565 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000572 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000649 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000762 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001264 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001268 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001270 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001288 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002061 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002312 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002313 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002355 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002359 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002371 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002376 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002493 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002505 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0004302 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0004466 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0009830 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0010846 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0011400 ORPHA:206443 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000505 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000618 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001250 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001251 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001260 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001337 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001350 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000712 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0001761 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002068 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002301 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002373 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0002445 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0003484 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0007018 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0008936 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0010830 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0011968 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0031006 ORPHA:206443 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206443 Late-infantile/juvenile Krabbe disease HP:0000737 ORPHA:206443 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:660 Omphalocele HP:0001539 ORPHA:660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:660 Omphalocele HP:0001622 ORPHA:660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1906 Fetal valproate spectrum disorder HP:0000160 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1906 Fetal valproate spectrum disorder HP:0000233 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1906 Fetal valproate spectrum disorder HP:0000286 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1906 Fetal valproate spectrum disorder HP:0000343 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1906 Fetal valproate spectrum disorder HP:0000457 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1906 Fetal valproate spectrum disorder HP:0001539 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1906 Fetal valproate spectrum disorder HP:0002714 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1906 Fetal valproate spectrum disorder HP:0003196 ORPHA:1906 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000750 ORPHA:353281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001249 ORPHA:353281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001999 ORPHA:353281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000028 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000079 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000189 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000444 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000708 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000722 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000733 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000735 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000756 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001508 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001513 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000712 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001627 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002019 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002020 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002205 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002353 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002750 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002870 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0004322 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0005484 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0007086 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0009765 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0009834 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0009836 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0010055 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0011087 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0011304 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0025269 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0100710 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0100852 ORPHA:353281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000010 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000047 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000076 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000126 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000388 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000405 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000407 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000488 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000501 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000539 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000668 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000670 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000678 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000689 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000718 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000752 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000787 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000932 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001250 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001252 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001344 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001388 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001510 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001629 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001631 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001643 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002090 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002308 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002664 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002999 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0003319 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0005743 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0010562 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0010674 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0011069 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0031546 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0100716 ORPHA:353281 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000518 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000589 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000695 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001642 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001647 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001650 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0001680 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002099 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002341 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002566 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0002858 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0003396 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0005363 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0005374 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0010302 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0010775 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0030434 ORPHA:353281 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000160 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000256 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000272 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000286 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000293 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000316 ORPHA:261295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000327 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000343 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000391 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000431 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000494 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0000768 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0001250 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0001252 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0001263 ORPHA:261295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0001631 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0001716 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0002119 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0004322 ORPHA:261295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0005280 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0008551 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0010059 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261295 20p12.3 microdeletion syndrome HP:0011304 ORPHA:261295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324713 ABeta amyloidosis, Italian type HP:0000726 ORPHA:324713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324713 ABeta amyloidosis, Italian type HP:0001250 ORPHA:324713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324713 ABeta amyloidosis, Italian type HP:0001259 ORPHA:324713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324713 ABeta amyloidosis, Italian type HP:0001268 ORPHA:324713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324713 ABeta amyloidosis, Italian type HP:0001297 ORPHA:324713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324713 ABeta amyloidosis, Italian type HP:0001342 ORPHA:324713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324713 ABeta amyloidosis, Italian type HP:0002076 ORPHA:324713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000093 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000100 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000135 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000164 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000252 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000268 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000276 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000316 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000400 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000407 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000426 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000457 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000478 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000494 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000496 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000504 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0000648 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0001249 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0001250 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0001251 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0001263 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0001273 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0001284 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0001297 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0001302 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0001635 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0002126 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0002421 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0003134 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0004322 ORPHA:66631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0007447 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0008064 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66631 CEDNIK syndrome HP:0009830 ORPHA:66631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0000891 ORPHA:66630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0000924 ORPHA:66630 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0001651 ORPHA:66630 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0001696 ORPHA:66630 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0002758 ORPHA:66630 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66630 Congenital pseudoarthrosis of the clavicle HP:0006585 ORPHA:66630 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0001347 ORPHA:320355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0002061 ORPHA:320355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0002064 ORPHA:320355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0002314 ORPHA:320355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0007020 ORPHA:320355 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0000012 ORPHA:320355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0003701 ORPHA:320355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0007210 ORPHA:320355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0030237 ORPHA:320355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0100561 ORPHA:320355 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0001250 ORPHA:320355 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0002921 ORPHA:320355 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0003457 ORPHA:320355 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:320355 Autosomal dominant spastic paraplegia type 41 HP:0012898 ORPHA:320355 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000113 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000126 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000154 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000158 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000160 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000175 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000202 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000218 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000238 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000252 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000272 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000280 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000316 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000319 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000347 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000365 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000369 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000445 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000448 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000470 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000486 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000494 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000508 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0000518 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001182 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001249 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001252 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001263 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001276 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001371 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001510 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001511 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001643 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001650 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0001883 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0002162 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0002230 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0002650 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0003202 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0004209 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0004322 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0004383 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0005487 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0008661 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0008736 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0009890 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0009928 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0010481 ORPHA:261290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0011229 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261290 Trisomy 17p HP:0012471 ORPHA:261290 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000160 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000175 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000218 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000233 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000248 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000252 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000276 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000324 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000343 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000347 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000348 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000369 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000426 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000444 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000463 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000486 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000494 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000677 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000678 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000717 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000718 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000739 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000750 ORPHA:251019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0001166 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0001252 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0001263 ORPHA:251019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0001510 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0001762 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0001863 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0002213 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0002360 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0002546 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0004209 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0004322 ORPHA:251019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0005692 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0007018 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0008070 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0008734 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0010059 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0010864 ORPHA:251019 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0011304 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0011968 ORPHA:251019 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0100024 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0100033 ORPHA:66624 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0000712 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0000716 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0000737 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0000751 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0002072 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0002360 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0002376 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0007018 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0008770 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0010865 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0100710 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0100852 ORPHA:66624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0000756 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0000805 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0002039 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0002183 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0002312 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0002829 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0005366 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0025253 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0031468 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0040183 ORPHA:66624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66624 PANDAS HP:0100754 ORPHA:66624 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000218 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000248 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000286 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000316 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000337 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000343 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000368 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000400 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000528 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0045075 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000582 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000618 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000653 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000687 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0000691 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0001162 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0001249 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0002006 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0005288 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0006315 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0008736 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0009891 ORPHA:66625 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0009912 ORPHA:66625 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66625 Cerebrooculonasal syndrome HP:0010806 ORPHA:66625 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] 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ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000494 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000750 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001999 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002553 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0005322 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0005484 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0006200 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0008897 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010055 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0011304 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0012758 ORPHA:353284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000028 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000077 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000119 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000189 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000444 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000478 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000508 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000708 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000722 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000733 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000735 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000756 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001508 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001513 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000712 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001627 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002019 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002205 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002870 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0004322 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0007086 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0008752 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0008872 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0009765 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0009834 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0009836 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0011087 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0025269 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0030680 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0100710 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0100852 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0410263 ORPHA:353284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000010 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000034 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000047 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000076 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000079 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000126 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000388 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000405 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000486 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000501 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000540 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000559 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000579 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000639 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000668 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000670 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000678 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000689 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000718 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000752 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000787 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000932 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001128 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001159 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001249 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001252 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001273 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001344 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001385 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001388 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001511 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001561 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001629 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001631 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001643 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001655 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002020 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002090 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002308 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002835 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002858 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002999 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0003319 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0005743 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0007099 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010051 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010442 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010674 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0011069 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0011470 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0012448 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0030047 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0031251 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0031546 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0100716 ORPHA:353284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000407 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000518 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000589 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000695 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001181 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001250 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001642 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001647 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001650 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0001680 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002099 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002341 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002353 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0002566 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0003396 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0005363 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0005374 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010562 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0010775 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0030434 ORPHA:353284 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0001513 ORPHA:66628 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0003292 ORPHA:66628 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0000771 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0000786 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0000815 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0000842 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0002591 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0005407 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0005419 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0008187 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0008214 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0040171 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0008724 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0008734 ORPHA:66628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0000831 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0002155 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0002788 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0004926 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0005616 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66628 Obesity due to congenital leptin deficiency HP:0008245 ORPHA:66628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000510 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000556 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000773 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000774 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000886 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000887 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0001510 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002867 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0004322 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0005257 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0006431 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0007663 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0008786 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0009824 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0045027 ORPHA:168549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000926 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002643 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002812 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0003411 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0005916 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0006589 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0006603 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0006712 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0008515 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0008812 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0011947 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0012774 ORPHA:168549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000508 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000518 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000613 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000639 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000646 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000648 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0000938 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0001216 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0001530 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002650 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002866 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0002943 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0003086 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0003180 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0003375 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0003521 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0007641 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0007769 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0008444 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168549 Axial spondylometaphyseal dysplasia HP:0100864 ORPHA:168549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000023 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000028 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000175 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000232 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000233 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000243 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000252 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000275 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000280 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000286 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000294 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000316 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000324 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000343 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000347 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000369 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000414 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000470 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000486 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000494 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000508 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000520 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000568 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000588 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000589 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000612 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000664 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000864 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001156 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001182 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001249 ORPHA:251014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001250 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001252 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001263 ORPHA:251014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001595 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001629 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001631 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001770 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001773 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001800 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0001852 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0002002 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0002119 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0002120 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0002463 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0002650 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0002714 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0002750 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0002808 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0002991 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0002992 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0040071 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0003422 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0004209 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0004279 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0004322 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0005487 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0005916 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0006101 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0010059 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0012745 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0100257 ORPHA:251014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0100490 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0002829 ORPHA:66627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0001376 ORPHA:66627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0001386 ORPHA:66627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0001387 ORPHA:66627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0002797 ORPHA:66627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0002815 ORPHA:66627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0000372 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0000405 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0001003 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0001004 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0001384 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0003019 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0003028 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0003043 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0009811 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0009911 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0031520 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0040090 ORPHA:66627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0000934 ORPHA:66627 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0005186 ORPHA:66627 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0005195 ORPHA:66627 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66627 Tenosynovial giant cell tumor HP:0040161 ORPHA:66627 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000175 ORPHA:1915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000219 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000252 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000275 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000286 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000319 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000347 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000368 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000463 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000486 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000506 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000508 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000568 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000691 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000708 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0000776 ORPHA:1915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0001249 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0001263 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0001328 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0001387 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0001511 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0001631 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0002230 ORPHA:1915 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0003196 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0003422 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0004322 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0004422 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0007477 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0010978 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0100335 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0100543 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1915 Fetal alcohol syndrome HP:0100761 ORPHA:1915 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000970 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000982 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0008070 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0001072 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0001231 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0007410 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0010783 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0031013 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0031057 ORPHA:659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000164 ORPHA:659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000407 ORPHA:659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000668 ORPHA:659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000670 ORPHA:659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0200042 ORPHA:659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000157 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000168 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0001250 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0001596 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0002797 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0002861 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0008069 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0011830 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0100526 ORPHA:659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002493 ORPHA:206448 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0001251 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0001257 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0001273 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002418 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002922 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0003487 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0006801 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0007199 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0007305 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0007361 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0012379 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0031993 ORPHA:206448 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0000572 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0001268 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0001288 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002062 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002312 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002344 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002353 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002359 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0003474 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0003484 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0004302 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0004466 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0007141 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0007340 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0009830 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0010830 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0011096 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0011441 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0031006 ORPHA:206448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0000020 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0001761 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002136 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002273 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002301 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002371 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0002492 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206448 Adult Krabbe disease HP:0100639 ORPHA:206448 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000158 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000238 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000316 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000365 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000453 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000463 ORPHA:1914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000470 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000505 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000518 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000520 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0000648 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0001156 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0001249 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0001250 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0001252 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0001511 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0002093 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0002475 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0030680 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0003196 ORPHA:1914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0005280 ORPHA:1914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0008056 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0008420 ORPHA:1914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0008551 ORPHA:1914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0009882 ORPHA:1914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1914 Vitamin K antagonist embryofetopathy HP:0010655 ORPHA:1914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000047 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000048 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000175 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000252 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000307 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000316 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000340 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000400 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000431 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000508 ORPHA:66629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0045075 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000612 ORPHA:66629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0001249 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0001250 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0001252 ORPHA:66629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0001302 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0001328 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0002079 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0002119 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0002209 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0002251 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0004322 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0006101 ORPHA:66629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0000282 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0001025 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0001939 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0002027 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0003401 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0005225 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0007514 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0011971 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0012027 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0012252 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0025349 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0040315 ORPHA:100050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0002013 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0002014 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0002015 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0002018 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0002094 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0100755 ORPHA:100050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0000172 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0001609 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0002098 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0002615 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0005348 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0005483 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0011855 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100050 Hereditary angioedema type 1 HP:0100736 ORPHA:100050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000047 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000062 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000218 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000248 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000252 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000286 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000347 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000369 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000396 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000486 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000508 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0000664 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0001249 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0001263 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0001511 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0001629 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0001631 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0001636 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0001669 ORPHA:1913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0002650 ORPHA:1913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0003196 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0005280 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0007598 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0011039 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0011220 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1913 Fetal trimethadione syndrome HP:0011800 ORPHA:1913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000028 ORPHA:1912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000048 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000154 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000175 ORPHA:1912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000232 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000235 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000252 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000286 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000316 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000364 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000368 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000377 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000457 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000474 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000486 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0000508 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0001199 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0001263 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0001511 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0001626 ORPHA:1912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0001804 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0002162 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0002208 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0002664 ORPHA:1912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0003196 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0004322 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0006610 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0007477 ORPHA:1912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0009882 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1912 Fetal hydantoin syndrome HP:0100790 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1911 Cocaine embryofetopathy HP:0000079 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1911 Cocaine embryofetopathy HP:0001276 ORPHA:1911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1911 Cocaine embryofetopathy HP:0001347 ORPHA:1911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1911 Cocaine embryofetopathy HP:0001626 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1911 Cocaine embryofetopathy HP:0002084 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1911 Cocaine embryofetopathy HP:0009882 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1911 Cocaine embryofetopathy HP:0011100 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1911 Cocaine embryofetopathy HP:0100657 ORPHA:1911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:655 Nephronophthisis HP:0000083 ORPHA:655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:655 Nephronophthisis HP:0001903 ORPHA:655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:655 Nephronophthisis HP:0007703 ORPHA:655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0000526 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0000790 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0000822 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0001824 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0001945 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0002027 ORPHA:654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0002664 ORPHA:654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0002667 ORPHA:654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0002716 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0002896 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:654 Nephroblastoma HP:0100526 ORPHA:654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1910 Fetal iodine syndrome HP:0000407 ORPHA:1910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1910 Fetal iodine syndrome HP:0000486 ORPHA:1910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1910 Fetal iodine syndrome HP:0000639 ORPHA:1910 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1910 Fetal iodine syndrome HP:0000821 ORPHA:1910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1910 Fetal iodine syndrome HP:0001249 ORPHA:1910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1910 Fetal iodine syndrome HP:0001264 ORPHA:1910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1910 Fetal iodine syndrome HP:0004374 ORPHA:1910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0000093 ORPHA:656 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0000969 ORPHA:656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0000097 ORPHA:656 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0003774 ORPHA:656 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0012622 ORPHA:656 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0100539 ORPHA:656 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0000737 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0001945 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0001967 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0002027 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0002315 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0003073 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0011947 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0012579 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0031504 ORPHA:656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0000707 ORPHA:656 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:656 Genetic steroid-resistant nephrotic syndrome HP:0002586 ORPHA:656 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001257 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001324 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001510 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002079 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002120 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0003202 ORPHA:496641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000648 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001263 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001272 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001344 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002069 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002187 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002191 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002445 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002465 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002878 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0005484 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0006808 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0007179 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0008947 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0010818 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0011968 ORPHA:496641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000020 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000316 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000347 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000582 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000687 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001251 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001284 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001357 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001561 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002015 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002342 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002376 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002380 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002650 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002804 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0003084 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0003236 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0004887 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0011451 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0012450 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0045075 ORPHA:496641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000011 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000400 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000733 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000767 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0000768 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001007 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001332 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001374 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002373 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002524 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0002607 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0006532 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0007002 ORPHA:496641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0000708 ORPHA:324703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0000726 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0001249 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0001259 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0001263 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0001297 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0001342 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0002076 ORPHA:324703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0003401 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0003474 ORPHA:324703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324703 ABetaL34V amyloidosis HP:0100659 ORPHA:324703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324708 ABeta amyloidosis, Iowa type HP:0000708 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324708 ABeta amyloidosis, Iowa type HP:0000726 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324708 ABeta amyloidosis, Iowa type HP:0001288 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324708 ABeta amyloidosis, Iowa type HP:0001297 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324708 ABeta amyloidosis, Iowa type HP:0001336 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324708 ABeta amyloidosis, Iowa type HP:0001342 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324708 ABeta amyloidosis, Iowa type HP:0002015 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324708 ABeta amyloidosis, Iowa type HP:0002354 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324708 ABeta amyloidosis, Iowa type HP:0100659 ORPHA:324708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000319 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000365 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000518 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000639 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000717 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0000954 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001250 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001251 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001319 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001476 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001508 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001510 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001876 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0001883 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002020 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002119 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002191 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002240 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002714 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002719 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0002813 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0003139 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0004322 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0007272 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0008066 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0009909 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0010655 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0011968 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251009 Maternal uniparental disomy of chromosome 1 HP:0100651 ORPHA:251009 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42665 Tietz syndrome HP:0000365 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42665 Tietz syndrome HP:0000593 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42665 Tietz syndrome HP:0001000 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42665 Tietz syndrome HP:0001010 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42665 Tietz syndrome HP:0002226 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42665 Tietz syndrome HP:0005599 ORPHA:42665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000252 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000331 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0001028 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0001269 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0002170 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0003764 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0007359 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0011124 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0025167 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0100494 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0100699 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0004426 ORPHA:398189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0008066 ORPHA:398189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:3000019 ORPHA:398189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000175 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000204 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000238 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000093 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000105 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000486 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000529 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000613 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000682 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000793 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000822 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000823 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0000970 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0001250 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0001319 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0001336 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0001363 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0001513 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0002591 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0002757 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0003072 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0003138 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0004322 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0004802 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0007021 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0007272 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0007641 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0007754 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0008066 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0012444 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0012587 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251004 Paternal uniparental disomy of chromosome 1 HP:0030612 ORPHA:251004 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000938 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000939 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000963 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000974 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001001 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001252 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001367 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001373 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001385 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0001387 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002020 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002036 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002300 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002381 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002381 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002673 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002748 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002749 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002812 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002827 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0003010 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0003510 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0005692 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0005743 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0007392 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0010529 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0100633 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0100699 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0100790 ORPHA:1901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000023 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000278 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000286 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0000347 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0002650 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0005280 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome HP:0100541 ORPHA:1901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000938 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000939 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000974 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000978 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000987 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001030 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001252 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001319 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0005659 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0005692 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0012379 ORPHA:1900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000482 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001075 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001324 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001373 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001519 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001762 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002761 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002827 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002943 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0032153 ORPHA:1900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000023 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000501 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000540 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000541 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000545 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000592 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000767 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001058 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001315 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001537 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001634 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001892 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002194 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002495 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002617 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002647 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002999 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003199 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003324 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003458 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003690 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003835 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0004942 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0005294 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0008780 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0020152 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0025019 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0025513 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0030043 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0031158 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0100295 ORPHA:1900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000243 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000377 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000486 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001635 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0001763 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002091 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002624 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002705 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0002987 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0003477 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0006532 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0031189 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0031629 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0045052 ORPHA:1900 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0040318 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0010472 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0032999 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0012379 ORPHA:95159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0007537 ORPHA:95159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0008066 ORPHA:95159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0001030 ORPHA:95159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0040320 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0001878 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0012804 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0100699 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0030756 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0001790 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0001072 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0000953 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0001010 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0002219 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0003401 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0000989 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0000969 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0001744 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0001892 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0000618 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0100532 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0500046 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0001096 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0000656 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0000938 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0001560 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0040322 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0200041 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0005406 ORPHA:95159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0011457 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0004552 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0002797 ORPHA:95159 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0000939 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95159 Hepatoerythropoietic porphyria HP:0012132 ORPHA:95159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0000962 ORPHA:28378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0000982 ORPHA:28378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0001249 ORPHA:28378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0007957 ORPHA:28378 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0000613 ORPHA:28378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0000639 ORPHA:28378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0000708 ORPHA:28378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0000975 ORPHA:28378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0004337 ORPHA:28378 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0000252 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0000272 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0000572 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0001250 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0001251 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0001337 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0001597 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:28378 Tyrosinemia type 2 HP:0002167 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0001319 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0002015 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0002486 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0003326 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0003552 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0004875 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0010548 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0011809 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0011968 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012892 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012899 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012900 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012901 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012903 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0012904 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0031372 ORPHA:684 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0003458 ORPHA:684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0008153 ORPHA:684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0011042 ORPHA:684 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75563 X-linked sideroblastic anemia HP:0001952 ORPHA:75563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75563 X-linked sideroblastic anemia HP:0000953 ORPHA:75563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75563 X-linked sideroblastic anemia HP:0000980 ORPHA:75563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75563 X-linked sideroblastic anemia HP:0001324 ORPHA:75563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75563 X-linked sideroblastic anemia HP:0001744 ORPHA:75563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75563 X-linked sideroblastic anemia HP:0001903 ORPHA:75563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75563 X-linked sideroblastic anemia HP:0002094 ORPHA:75563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75563 X-linked sideroblastic anemia HP:0002910 ORPHA:75563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75563 X-linked sideroblastic anemia HP:0011031 ORPHA:75563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75563 X-linked sideroblastic anemia HP:0012378 ORPHA:75563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0000605 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0000623 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002015 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002172 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002317 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002527 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002529 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0012535 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0100710 ORPHA:683 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0000511 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0000514 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0000643 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0000716 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0000750 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0001332 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002067 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002120 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002171 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002200 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002354 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002381 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0100543 ORPHA:683 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0000496 ORPHA:683 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0000726 ORPHA:683 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0001337 ORPHA:683 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:683 Progressive supranuclear palsy HP:0002063 ORPHA:683 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003701 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003789 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003803 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0009062 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003473 ORPHA:424107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0000508 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0001270 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0001284 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0001288 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0001508 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002047 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002058 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002205 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002650 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002828 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003198 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003388 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003458 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003691 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0011968 ORPHA:424107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0000602 ORPHA:424107 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0002747 ORPHA:424107 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003201 ORPHA:424107 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0003236 ORPHA:424107 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:424107 Congenital myopathy with myasthenic-like onset HP:0040191 ORPHA:424107 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0000597 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0001276 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0001288 ORPHA:682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0001315 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0001371 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0001522 ORPHA:682 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0001635 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0002047 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0002093 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0002153 ORPHA:682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0002380 ORPHA:682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0002486 ORPHA:682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0002607 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0002900 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0002902 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0003198 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0003202 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0003236 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0003326 ORPHA:682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0003401 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0003457 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0003712 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0003752 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0007215 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0008872 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0011675 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0100021 ORPHA:682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0100613 ORPHA:682 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:682 Hyperkalemic periodic paralysis HP:0100749 ORPHA:682 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000049 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000160 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000252 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000272 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000286 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000316 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000365 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000389 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000411 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000414 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000486 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000498 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000527 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000687 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000708 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000750 ORPHA:261279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000960 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001252 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001347 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001376 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001508 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001511 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001631 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001643 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001763 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0001852 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002007 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002020 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002092 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002094 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002553 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002650 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0002803 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0003065 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0003182 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0003279 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0004209 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0004322 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0005280 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0005930 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0007598 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0010511 ORPHA:261279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0011342 ORPHA:261279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0011343 ORPHA:261279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0011803 ORPHA:261279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0100807 ORPHA:261279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0008153 ORPHA:681 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0012726 ORPHA:681 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0003457 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0003470 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0003752 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0004303 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0008180 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0012240 ORPHA:681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0009020 ORPHA:681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0011998 ORPHA:681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0003694 ORPHA:681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0002203 ORPHA:681 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0008256 ORPHA:681 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0030196 ORPHA:681 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0002486 ORPHA:681 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:681 Hypokalemic periodic paralysis HP:0006670 ORPHA:681 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0000978 ORPHA:231401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0001744 ORPHA:231401 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0001873 ORPHA:231401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0001875 ORPHA:231401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0001892 ORPHA:231401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0001935 ORPHA:231401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0002094 ORPHA:231401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0002488 ORPHA:231401 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0002721 ORPHA:231401 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0002863 ORPHA:231401 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0011903 ORPHA:231401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome HP:0012378 ORPHA:231401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0000175 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0000490 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0000501 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0000568 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0000664 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0000750 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0001249 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0001250 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0001561 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0001631 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0001770 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0002463 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0002539 ORPHA:261272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0002575 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0003468 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0006101 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261272 17q12 microduplication syndrome HP:0100716 ORPHA:261272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0000369 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0001128 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0002055 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0009743 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0011336 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0045075 ORPHA:398173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0000385 ORPHA:398173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0000666 ORPHA:398173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0004554 ORPHA:398173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0007651 ORPHA:398173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0000377 ORPHA:398173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0000387 ORPHA:398173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398173 Focal facial dermal dysplasia type II HP:0000394 ORPHA:398173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:677 Pancreatoblastoma HP:0001824 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:677 Pancreatoblastoma HP:0002013 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:677 Pancreatoblastoma HP:0002014 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:677 Pancreatoblastoma HP:0002027 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:677 Pancreatoblastoma HP:0003270 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:677 Pancreatoblastoma HP:0005213 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:677 Pancreatoblastoma HP:0005984 ORPHA:677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:677 Pancreatoblastoma HP:0000952 ORPHA:677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:677 Pancreatoblastoma HP:0002733 ORPHA:677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:676 Hereditary chronic pancreatitis HP:0001974 ORPHA:676 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:676 Hereditary chronic pancreatitis HP:0002027 ORPHA:676 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:676 Hereditary chronic pancreatitis HP:0011227 ORPHA:676 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:676 Hereditary chronic pancreatitis HP:0100027 ORPHA:676 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:676 Hereditary chronic pancreatitis HP:0012379 ORPHA:676 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:676 Hereditary chronic pancreatitis HP:0000819 ORPHA:676 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:676 Hereditary chronic pancreatitis HP:0000952 ORPHA:676 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:676 Hereditary chronic pancreatitis HP:0005213 ORPHA:676 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:676 Hereditary chronic pancreatitis HP:0030247 ORPHA:676 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0004334 ORPHA:679 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0100585 ORPHA:679 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0200034 ORPHA:679 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0001824 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0002017 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0002027 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0002239 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0005244 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0010547 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0012378 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0031368 ORPHA:679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0000508 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0000518 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0000587 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0000651 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0001250 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0001637 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0001658 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0001697 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0002076 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0002140 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0002202 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0002321 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0002586 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0002878 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0004420 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0006824 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0007021 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0009830 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0010936 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0012089 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0100576 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0100749 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:679 Malignant atrophic papulosis HP:0100819 ORPHA:679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0000164 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0000166 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0000230 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0000704 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0000972 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0000982 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0000998 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0001053 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0001073 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0001166 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0001231 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0001581 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0001597 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0002205 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0002230 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0002231 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0002514 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0002797 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0002860 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0002861 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0006308 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0006323 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0008069 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0008404 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0009804 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0011132 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0100523 ORPHA:678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0100838 ORPHA:678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:678 Papillon-Lefèvre syndrome HP:0200039 ORPHA:678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0000112 ORPHA:100024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0000939 ORPHA:100024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0001744 ORPHA:100024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0001824 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0001903 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0001945 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0002240 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0002716 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0002797 ORPHA:100024 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0005561 ORPHA:100024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0010702 ORPHA:100024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0010975 ORPHA:100024 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100024 Mu-heavy chain disease HP:0030156 ORPHA:100024 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0001510 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0001541 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0001596 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0001744 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0001903 ORPHA:100025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0001945 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0002024 ORPHA:100025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0002027 ORPHA:100025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0002240 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0002244 ORPHA:100025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0002665 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0002716 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0002721 ORPHA:100025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0002901 ORPHA:100025 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0002961 ORPHA:100025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100025 Alpha-heavy chain disease HP:0008209 ORPHA:100025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:631 Non-acquired isolated growth hormone deficiency HP:0000830 ORPHA:631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:631 Non-acquired isolated growth hormone deficiency HP:0002750 ORPHA:631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:631 Non-acquired isolated growth hormone deficiency HP:0004322 ORPHA:631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0000174 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0000988 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0001370 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0001744 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0001873 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0001890 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0001903 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0001945 ORPHA:100026 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0001973 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0002015 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0002205 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0002240 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0002716 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0002797 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0002960 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0004332 ORPHA:100026 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0005561 ORPHA:100026 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0009830 ORPHA:100026 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0012378 ORPHA:100026 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100026 Gamma-heavy chain disease HP:0100648 ORPHA:100026 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0012090 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0025439 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0100539 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0000024 ORPHA:449432 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0025426 ORPHA:449432 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0002960 ORPHA:449432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0003237 ORPHA:449432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0010287 ORPHA:449432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0032300 ORPHA:449432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0000217 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0001880 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0002716 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0003212 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0004431 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0007734 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0010286 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0010702 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0031281 ORPHA:449432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0000077 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0000083 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0000282 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0000820 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0005200 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0011801 ORPHA:449432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449432 IgG4-related submandibular gland disease HP:0030151 ORPHA:449432 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0000003 ORPHA:261265 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0000028 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0000049 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0000070 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0000083 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0000239 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0000365 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0000717 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0000819 ORPHA:261265 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0001249 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0001250 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0001263 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0001562 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0002059 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0002463 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0002910 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0004322 ORPHA:261265 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0008678 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0011968 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0012157 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261265 17q12 microdeletion syndrome HP:0100801 ORPHA:261265 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66661 Mast cell sarcoma HP:0001744 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66661 Mast cell sarcoma HP:0001824 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66661 Mast cell sarcoma HP:0002240 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66661 Mast cell sarcoma HP:0002716 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66661 Mast cell sarcoma HP:0012378 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66661 Mast cell sarcoma HP:0100242 ORPHA:66661 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66661 Mast cell sarcoma HP:0100495 ORPHA:66661 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66661 Mast cell sarcoma HP:0100720 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66661 Mast cell sarcoma HP:0100721 ORPHA:66661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000311 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000771 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000826 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000836 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000929 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0001373 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0001513 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0002652 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0002905 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0007565 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0011362 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0100530 ORPHA:457059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000035 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000036 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000140 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000280 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000853 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000858 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000958 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000963 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0001249 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0001482 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0002650 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0100543 ORPHA:457059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000147 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000365 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000505 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0001596 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0002684 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0002757 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0003272 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0010788 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0100013 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0100031 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0100242 ORPHA:457059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0002091 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0002151 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0003200 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0003546 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0003722 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0004322 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0008180 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0008994 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0009053 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0012240 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0030319 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0040014 ORPHA:457050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0008997 ORPHA:457050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001627 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001629 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001702 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0006705 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011103 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011553 ORPHA:216694 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001631 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001642 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001662 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0005150 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011539 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011552 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0030148 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0031546 ORPHA:216694 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0000961 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001508 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001635 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001643 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001651 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001659 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001696 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001709 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001716 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0001750 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0003388 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0004755 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0004935 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0005180 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0005185 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0006699 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0010316 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011538 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011581 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011590 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011621 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011663 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011667 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011675 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011682 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011688 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011704 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011705 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011707 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0012537 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0012722 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0031567 ORPHA:216694 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0004749 ORPHA:216694 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0004756 ORPHA:216694 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:216694 Congenitally corrected transposition of the great arteries HP:0011599 ORPHA:216694 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0012534 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0031249 ORPHA:353253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0010829 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0010824 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0007377 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0032143 ORPHA:353253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0000223 ORPHA:353253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0000739 ORPHA:353253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0000716 ORPHA:353253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0030811 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0000168 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0000217 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0002315 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0002360 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0000712 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0031042 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353253 Burning mouth syndrome HP:0010298 ORPHA:353253 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0000238 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0000989 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0001000 ORPHA:626 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0001053 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0001250 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0001482 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0002230 ORPHA:626 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0002664 ORPHA:626 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0002859 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0003764 ORPHA:626 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0005600 ORPHA:626 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0008069 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0012056 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:626 Large congenital melanocytic nevus HP:0100242 ORPHA:626 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000518 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000952 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001249 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001250 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001263 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001433 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0003575 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0004446 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0005525 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0008897 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0011972 ORPHA:168577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000252 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000256 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000400 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000470 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000475 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000639 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001156 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001251 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001258 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001276 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0001334 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0002719 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0002908 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0004322 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0007229 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0010306 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0010920 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0012430 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0012448 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0012695 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0100022 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000028 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000175 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000256 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000293 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000316 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000347 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000365 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000368 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000396 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000592 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000772 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000889 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000944 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0000974 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0005916 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0001252 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0001373 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0001385 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0001387 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0001511 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0002093 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0002205 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0002514 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0002650 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0002808 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0002983 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0003042 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0003312 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0005280 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0005692 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0005930 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0006487 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0008434 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0008921 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0009381 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0009465 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0009623 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0009748 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0009773 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0011001 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0011800 ORPHA:628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0100490 ORPHA:628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:628 Diastrophic dysplasia HP:0100761 ORPHA:628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0000100 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0000821 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0000944 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0000958 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0000969 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0000989 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0001019 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0001072 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0001508 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0001596 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0001744 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0001831 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0001880 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0001903 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0001945 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0001974 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0002028 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0002090 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0002240 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0002665 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0002716 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0002960 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0004332 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0004430 ORPHA:39041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0007549 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0100646 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0100806 ORPHA:39041 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39041 Omenn syndrome HP:0100840 ORPHA:39041 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000164 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000276 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000303 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000411 ORPHA:627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000426 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000448 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000482 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000486 ORPHA:627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000501 ORPHA:627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000505 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000518 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000541 ORPHA:627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000568 ORPHA:627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000572 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000639 ORPHA:627 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0000708 ORPHA:627 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0001249 ORPHA:627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0010049 ORPHA:627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:627 Nance-Horan syndrome HP:0011069 ORPHA:627 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0000505 ORPHA:622 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0000639 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0000709 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0000726 ORPHA:622 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001250 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001251 ORPHA:622 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001252 ORPHA:622 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001254 ORPHA:622 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001263 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001508 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0001980 ORPHA:622 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0002013 ORPHA:622 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:622 Homocystinuria without methylmalonic aciduria HP:0002120 ORPHA:622 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0001324 ORPHA:168572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0002058 ORPHA:168572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0000028 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0000175 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0001252 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0001270 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0001488 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0001762 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0002020 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0002047 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0002093 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0002803 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0002804 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0003202 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0004322 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0008458 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0010674 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0011968 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0012084 ORPHA:168572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0000193 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0000218 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0000347 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0000405 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0000494 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0001260 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0001315 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0002714 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0011819 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0100295 ORPHA:168572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0000329 ORPHA:168572 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0001256 ORPHA:168572 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0001388 ORPHA:168572 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0002540 ORPHA:168572 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:168572 Native American myopathy HP:0012385 ORPHA:168572 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0000572 ORPHA:39044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0001098 ORPHA:39044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0012054 ORPHA:39044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0000541 ORPHA:39044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0011524 ORPHA:39044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0012055 ORPHA:39044 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0000539 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0007902 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0007906 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0008494 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0010920 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0011499 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0012508 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0030786 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0030800 ORPHA:39044 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0100533 ORPHA:39044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:39044 Uveal melanoma HP:0200026 ORPHA:39044 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0000643 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0001304 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0001336 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0002067 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0002072 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0002172 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0002322 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0002362 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0002378 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0002548 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0004373 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0007158 ORPHA:53351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0002355 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0002359 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0002451 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0006511 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0010808 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0011951 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53351 X-linked dystonia-parkinsonism HP:0031162 ORPHA:53351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0000961 ORPHA:621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0012119 ORPHA:621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0000707 ORPHA:621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0001597 ORPHA:621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0002875 ORPHA:621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0025118 ORPHA:621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0000252 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0000565 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0000592 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0001257 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0001263 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0001272 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0002283 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0002305 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0002451 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0002510 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0006808 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0006913 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0007112 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0010864 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0011344 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0001250 ORPHA:621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0001276 ORPHA:621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0001518 ORPHA:621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0012448 ORPHA:621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:621 Hereditary methemoglobinemia HP:0012697 ORPHA:621 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0000501 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0000969 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0001034 ORPHA:624 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0001052 ORPHA:624 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0001249 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0001250 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0001269 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0001291 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0002170 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0002204 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0002301 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0002514 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0002650 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0002814 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0002817 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0004936 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0005293 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0007400 ORPHA:624 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0011675 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0100026 ORPHA:624 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0100559 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0200034 ORPHA:624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:624 Familial multiple nevi flammei HP:0200042 ORPHA:624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000054 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000248 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000286 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000322 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000347 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000426 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000430 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000437 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000455 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000486 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000639 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000821 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000822 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0000823 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0001249 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0001250 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0001263 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0001903 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0002667 ORPHA:52022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0002697 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0002714 ORPHA:52022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0004331 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52022 Potocki-Shaffer syndrome HP:0100777 ORPHA:52022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0001249 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0001258 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0002061 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0002064 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0003487 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0005830 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0006380 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0006466 ORPHA:320396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0001263 ORPHA:320396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0001270 ORPHA:320396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0001347 ORPHA:320396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0012043 ORPHA:320396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0000545 ORPHA:320396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320396 Autosomal recessive spastic paraplegia type 45 HP:0000648 ORPHA:320396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000348 ORPHA:261250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000411 ORPHA:261250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000717 ORPHA:261250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000154 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000218 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000307 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000319 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000343 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000347 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000609 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0001250 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0002007 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0002079 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0002119 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0002342 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0007165 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0030048 ORPHA:261250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000028 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000276 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000325 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000365 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000384 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000389 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000463 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000483 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000486 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000505 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000545 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000582 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000639 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0000750 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0001385 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0001629 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0001644 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0001653 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0001873 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0002015 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0002553 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0002650 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0002808 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0004422 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0005518 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0006315 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0009623 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0010720 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0011968 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261250 16q24.3 microdeletion syndrome HP:0012471 ORPHA:261250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000316 ORPHA:398156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000456 ORPHA:398156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000160 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000252 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000289 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000324 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000347 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000384 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000405 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000430 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000445 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000636 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0001140 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0001629 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0002084 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0002650 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0006931 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0008551 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0010609 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0410030 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000175 ORPHA:398156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000256 ORPHA:398156 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0000488 ORPHA:618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0000958 ORPHA:618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0001480 ORPHA:618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0001595 ORPHA:618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0002071 ORPHA:618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0002861 ORPHA:618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0002894 ORPHA:618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0003764 ORPHA:618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0006753 ORPHA:618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0100013 ORPHA:618 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:618 Familial melanoma HP:0100763 ORPHA:618 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000518 ORPHA:320391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0001251 ORPHA:320391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002061 ORPHA:320391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002355 ORPHA:320391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0003487 ORPHA:320391 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0001272 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002059 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002120 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002500 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0007371 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0100543 ORPHA:320391 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000020 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000365 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000639 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000726 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0000789 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0001347 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0001761 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002078 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002136 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002346 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002464 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0002650 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0003477 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0006938 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0006986 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0007256 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0008003 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0008734 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0012207 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0012864 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0012865 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320391 Autosomal recessive spastic paraplegia type 46 HP:0100261 ORPHA:320391 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0011672 ORPHA:615 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0006691 ORPHA:615 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0030148 ORPHA:615 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0002875 ORPHA:615 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0003388 ORPHA:615 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0000952 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0001396 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0001541 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0001635 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0001640 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0001907 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0001945 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0005180 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0006689 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0010741 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0100749 ORPHA:615 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0002617 ORPHA:615 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:615 Familial atrial myxoma HP:0004944 ORPHA:615 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:614 Thomsen and Becker disease HP:0002486 ORPHA:614 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:614 Thomsen and Becker disease HP:0003457 ORPHA:614 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:617 Congenital primary megaureter HP:0000010 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:617 Congenital primary megaureter HP:0000036 ORPHA:617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:617 Congenital primary megaureter HP:0000076 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:617 Congenital primary megaureter HP:0000126 ORPHA:617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:617 Congenital primary megaureter HP:0000787 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:617 Congenital primary megaureter HP:0001945 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:617 Congenital primary megaureter HP:0002027 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:617 Congenital primary megaureter HP:0002907 ORPHA:617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:617 Congenital primary megaureter HP:0008676 ORPHA:617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:617 Congenital primary megaureter HP:0010935 ORPHA:617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0002885 ORPHA:616 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0000270 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0001251 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0001254 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0001291 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0001310 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0002017 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0002073 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0002080 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0002315 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0002516 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0004481 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0007129 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0009878 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0012658 ORPHA:616 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0000238 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0000529 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0000651 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0000737 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0001263 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0002321 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0002350 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0003418 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0005227 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0005561 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0007352 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0007824 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0008619 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0010302 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0011695 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0100543 ORPHA:616 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0002910 ORPHA:616 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0003006 ORPHA:616 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:616 Medulloblastoma HP:0100526 ORPHA:616 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0001315 ORPHA:611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0002960 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0003200 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0003202 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0003236 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0003326 ORPHA:611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0003457 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0003701 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0003731 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0003805 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0004303 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0008872 ORPHA:611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:611 Inclusion body myositis HP:0009071 ORPHA:611 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0001324 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0001371 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003458 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003560 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0009073 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0030095 ORPHA:610 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0000467 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0001220 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0001239 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0001288 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0002355 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0002460 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0002828 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003236 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003325 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003731 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0006466 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0009058 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0100490 ORPHA:610 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0000962 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0001073 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0001382 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0001771 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0002086 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0002515 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0002650 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0002791 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0002938 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0002987 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003306 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003327 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003391 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003691 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003700 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0003805 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0009027 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0010176 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0012497 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:610 Bethlem myopathy HP:0032152 ORPHA:610 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0002155 ORPHA:650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0003233 ORPHA:650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0031799 ORPHA:650 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0000083 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0000093 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0001878 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0002621 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0007957 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0012213 ORPHA:650 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0000505 ORPHA:650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0001919 ORPHA:650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0003774 ORPHA:650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:650 LCAT deficiency HP:0005181 ORPHA:650 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002865 ORPHA:653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0000739 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0000975 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0000980 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0001962 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002014 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002315 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002640 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002666 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003345 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003528 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003639 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0008208 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0011781 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0011976 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0011978 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0025388 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0032241 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0100735 ORPHA:653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0000787 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0001324 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0001519 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002019 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002150 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002251 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002751 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002864 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002896 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0002897 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003072 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003165 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003270 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003307 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0008200 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0010622 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0010726 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0012471 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0025151 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0025289 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0030430 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0030809 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0030833 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0031023 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0032346 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0100526 ORPHA:653 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0001388 ORPHA:653 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0003758 ORPHA:653 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:653 Multiple endocrine neoplasia type 2 HP:0007126 ORPHA:653 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0003072 ORPHA:652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0008200 ORPHA:652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0008208 ORPHA:652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0010615 ORPHA:652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0031058 ORPHA:652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000802 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000849 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001012 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001824 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002014 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002020 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002027 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002044 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002150 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002893 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002894 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0004349 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0004398 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0005605 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0006767 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0040306 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0100829 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0500167 ORPHA:652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000141 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000169 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000716 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000736 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000787 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000822 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000845 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0000853 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001254 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001289 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001293 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001579 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001944 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002013 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002018 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002019 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002039 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002248 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002249 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002315 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002588 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002659 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002797 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002858 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002890 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0003118 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0006723 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0006744 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0007449 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011407 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011760 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0012197 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0012232 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0030405 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0032044 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0040085 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0100570 ORPHA:652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0001259 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002666 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0002888 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0003144 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0003528 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0006780 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0008291 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011151 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011759 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011761 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0011762 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0030404 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0030445 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:652 Multiple endocrine neoplasia type 1 HP:0100522 ORPHA:652 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0012379 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0030272 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0003281 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0012465 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0031876 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0032500 ORPHA:101330 TAS HP:0040281 M ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0030955 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0200123 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0002725 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0003774 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0000819 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0001397 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0004377 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0000992 ORPHA:101330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0008066 ORPHA:101330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0001030 ORPHA:101330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0040189 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0001058 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0012531 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0005406 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0031292 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0000998 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0001010 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0000953 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0001007 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0100699 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0000559 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0000656 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0002910 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0001405 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0033197 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0033196 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0001402 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0010473 ORPHA:101330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0010472 ORPHA:101330 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0032999 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0012217 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0003452 ORPHA:101330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101330 Porphyria cutanea tarda HP:0006562 ORPHA:101330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002205 ORPHA:320385 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000248 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000252 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000293 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000294 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000311 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000338 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000470 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000475 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000678 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001249 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001260 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001263 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001284 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001290 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001310 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002066 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0004322 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001250 ORPHA:320385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0001272 ORPHA:320385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002059 ORPHA:320385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002079 ORPHA:320385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002871 ORPHA:320385 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0000268 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0000717 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0000718 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0000767 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001161 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001166 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001249 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001263 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001363 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001629 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001631 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001636 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001669 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001680 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0001763 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0002463 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0005692 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0007018 ORPHA:261243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261243 16p13.11 microduplication syndrome HP:0100753 ORPHA:261243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100006 ABeta amyloidosis, Dutch type HP:0000708 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100006 ABeta amyloidosis, Dutch type HP:0000726 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100006 ABeta amyloidosis, Dutch type HP:0001250 ORPHA:100006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100006 ABeta amyloidosis, Dutch type HP:0001268 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100006 ABeta amyloidosis, Dutch type HP:0001297 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100006 ABeta amyloidosis, Dutch type HP:0001342 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100006 ABeta amyloidosis, Dutch type HP:0002315 ORPHA:100006 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100006 ABeta amyloidosis, Dutch type HP:0002514 ORPHA:100006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100006 ABeta amyloidosis, Dutch type HP:0011970 ORPHA:100006 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100006 ABeta amyloidosis, Dutch type HP:0100613 ORPHA:100006 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:100008 ACys amyloidosis HP:0001297 ORPHA:100008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100008 ACys amyloidosis HP:0001342 ORPHA:100008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100008 ACys amyloidosis HP:0011034 ORPHA:100008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100008 ACys amyloidosis HP:0011970 ORPHA:100008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100008 ACys amyloidosis HP:0100613 ORPHA:100008 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome HP:0000407 ORPHA:66633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome HP:0000592 ORPHA:66633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome HP:0001100 ORPHA:66633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome HP:0001337 ORPHA:66633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome HP:0002216 ORPHA:66633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000218 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000273 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000316 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000347 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000369 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000494 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000750 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001249 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001999 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002553 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0005322 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0005484 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0006200 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0008897 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010055 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0011304 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0012758 ORPHA:353277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000028 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000077 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000119 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000189 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000444 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000478 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000508 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000708 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000722 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000733 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000735 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000756 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001508 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001513 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000712 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001627 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002019 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002205 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002870 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0004322 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0007086 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0008752 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0008872 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0009765 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0009834 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0009836 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0011087 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0025269 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0030680 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0100710 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0100852 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0410263 ORPHA:353277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000010 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000034 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000047 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000076 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000079 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000126 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000388 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000405 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000486 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000501 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000540 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000559 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000579 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000639 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000668 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000670 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000678 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000689 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000718 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000752 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000787 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000932 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001128 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001159 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001181 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001252 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001273 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001344 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001385 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001388 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001511 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001561 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001629 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001631 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001643 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001655 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002020 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002090 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002308 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002835 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002858 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002999 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0003319 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0005743 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0007099 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010051 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010442 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010674 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0011069 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0011470 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0012448 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0030047 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0031251 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0031546 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0100716 ORPHA:353277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000407 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000518 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000589 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000695 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001250 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001642 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001647 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001650 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0001680 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002099 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002341 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002353 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0002566 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0003396 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0005363 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0005374 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010562 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0010775 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations HP:0030434 ORPHA:353277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0000496 ORPHA:293168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0001257 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0001258 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0001260 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0001347 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0002193 ORPHA:293168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0002425 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0002445 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0002510 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0005216 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis HP:0007256 ORPHA:293168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001251 ORPHA:66634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001510 ORPHA:66634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001644 ORPHA:66634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0003530 ORPHA:66634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0003535 ORPHA:66634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001511 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001657 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002151 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002194 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002910 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0004840 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0004856 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0012758 ORPHA:66634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0000051 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0000648 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001250 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001414 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001998 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0008689 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0008736 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0011623 ORPHA:66634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0000821 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001319 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001324 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001332 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0001999 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002061 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002345 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0002376 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0003700 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0007146 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0007366 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0008619 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0008762 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0009110 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0100660 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66634 Dilated cardiomyopathy with ataxia HP:0100702 ORPHA:66634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0000175 ORPHA:66637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0000470 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0000921 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0002098 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0002475 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0003275 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0004599 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0005562 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0005640 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0010306 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:66637 Diaphanospondylodysostosis HP:0100625 ORPHA:66637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000028 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000033 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000037 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008665 ORPHA:168558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000127 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000142 ORPHA:168558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000144 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000151 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000771 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000823 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000835 ORPHA:168558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0002750 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000848 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008207 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000939 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001197 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001274 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001508 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001622 ORPHA:168558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001941 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001944 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0001998 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0002013 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0002153 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0002615 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0002902 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0004319 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0003107 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0003154 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0012605 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0004349 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0007440 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0007574 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008163 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008187 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008232 ORPHA:168558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008730 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0008734 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0010789 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0011106 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0011749 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0011968 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0011969 ORPHA:168558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0012244 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0012245 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0012598 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0012854 ORPHA:168558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0030349 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0030369 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0100779 ORPHA:168558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0025282 ORPHA:398147 TAS HP:0040282 M ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0007328 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0003401 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0003489 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0000271 ORPHA:398147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0012532 ORPHA:398147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0000707 ORPHA:398147 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0003474 ORPHA:398147 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0032143 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0000739 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0000716 ORPHA:398147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:398147 Persistent idiopathic facial pain HP:0012332 ORPHA:398147 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0001249 ORPHA:320380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0001258 ORPHA:320380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0001263 ORPHA:320380 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0000486 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0001260 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0001288 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0002015 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0002064 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0002079 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0007766 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0008366 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0030891 ORPHA:320380 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0000218 ORPHA:320380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0004322 ORPHA:320380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0006970 ORPHA:320380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320380 Autosomal recessive spastic paraplegia type 54 HP:0030051 ORPHA:320380 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000028 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000044 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000078 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000179 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000218 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000316 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000325 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000347 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000348 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000368 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000391 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000407 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000465 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000474 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000476 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000486 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000494 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000508 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000520 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000639 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000767 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000768 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0000995 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0001004 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0001156 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0001252 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0001260 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0001324 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0001641 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0001743 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0001892 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0001928 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0002162 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0002167 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0002208 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0002240 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0030680 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0002650 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0002750 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0002974 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0004209 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0004322 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0004415 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0005692 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0006610 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0007477 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0008872 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0010318 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0011362 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0011381 ORPHA:648 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0011675 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0011800 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0011869 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0100625 ORPHA:648 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:648 Noonan syndrome HP:0100763 ORPHA:648 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000175 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000252 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000271 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000278 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000294 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000340 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000364 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000400 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000426 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000444 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000448 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000470 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000492 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000582 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0000992 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0001268 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0001324 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0001480 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0001595 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0001873 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0001878 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0001890 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002002 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002023 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002025 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002028 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002205 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002269 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002488 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002664 ORPHA:647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002665 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002859 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0002878 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0003011 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0003202 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0003220 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0004322 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0004326 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0005280 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0005425 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0006532 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0007018 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0009733 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0011362 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0012190 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0012191 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0012732 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0100335 ORPHA:647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:647 Nijmegen breakage syndrome HP:0100515 ORPHA:647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0000926 ORPHA:168555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0001376 ORPHA:168555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0002657 ORPHA:168555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0002812 ORPHA:168555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0002983 ORPHA:168555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0003510 ORPHA:168555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0004279 ORPHA:168555 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168555 Spondylometaphyseal dysplasia, A4 type HP:0006603 ORPHA:168555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0000649 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0000737 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001257 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001268 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001955 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002344 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002922 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0004302 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0007141 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0012379 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0030215 ORPHA:206436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0000762 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001508 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002061 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002361 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002518 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0004466 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0009062 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0011968 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0012706 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0012708 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0031161 ORPHA:206436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0000365 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0000572 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0000613 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0000618 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0000648 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001250 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001263 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001265 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001298 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001324 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001336 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001347 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002013 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002020 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002098 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002123 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002179 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002421 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002506 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002516 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002719 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0002878 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0003547 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0003552 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0004326 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0005968 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0007103 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0011448 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0011470 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0025013 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0030211 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0031860 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0040194 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0040195 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0100963 ORPHA:206436 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0000467 ORPHA:206436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001053 ORPHA:206436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001264 ORPHA:206436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0001601 ORPHA:206436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:206436 Infantile Krabbe disease HP:0010729 ORPHA:206436 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000028 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000233 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000252 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000272 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000375 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000400 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000407 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000411 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000446 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000490 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000501 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000518 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000532 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000541 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000568 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000601 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000615 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000618 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000639 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000647 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000648 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000708 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000709 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000717 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000733 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000737 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000738 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000739 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000819 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0000823 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0001083 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0001250 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0001252 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0001276 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0001324 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0001347 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0001508 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0002076 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0002120 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0002169 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0002353 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0002360 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0002376 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0002650 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0004326 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0004327 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0005293 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0006887 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0007018 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0007360 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0007676 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0007833 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0007957 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0007968 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0008046 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0008063 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0010662 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0010978 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0011039 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0100012 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0100639 ORPHA:649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0100716 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0100718 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:649 Norrie disease HP:0100742 ORPHA:649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0000365 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0000510 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0000543 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0000618 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0000639 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0000726 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0000737 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0000763 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0001133 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0001136 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0001250 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0001251 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0001263 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0002119 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0002120 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0002315 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0003394 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0003487 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0003701 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0003739 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0004322 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0007117 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0007240 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0007814 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0010864 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0012751 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0030588 ORPHA:644 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:644 NARP syndrome HP:0008316 ORPHA:644 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0001284 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0001290 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0001382 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0002235 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0002355 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0003405 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0003429 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0003701 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0005109 ORPHA:643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0001249 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0001257 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0001317 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0001761 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0001762 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0002224 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0002317 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0002460 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0002650 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0002936 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0005922 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0010628 ORPHA:643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0002527 ORPHA:643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0002857 ORPHA:643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0003487 ORPHA:643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0003690 ORPHA:643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:643 Giant axonal neuropathy HP:0012503 ORPHA:643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000708 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000952 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001250 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001251 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001260 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001263 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001288 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001332 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001337 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001541 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001618 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001744 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002015 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002072 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002167 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002240 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002360 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002376 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0007256 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0010318 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0100543 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0011400 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002088 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0012433 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0011446 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0100022 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001392 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000718 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000741 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0011951 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0008765 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002530 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0007302 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0004333 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002524 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001252 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0006855 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002059 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002312 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000750 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000726 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0007108 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000716 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000734 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0011968 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001791 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0003651 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0007359 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002359 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0006913 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0011471 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002197 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000365 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001399 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001433 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001789 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002079 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001249 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002080 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002415 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002451 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0003349 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000744 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002061 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001268 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001252 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001336 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0030050 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000722 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0007240 ORPHA:646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002344 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000709 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002113 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002878 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002093 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0100753 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0001328 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0011098 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002133 ORPHA:646 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002493 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0000511 ORPHA:646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:646 Niemann-Pick disease type C HP:0002367 ORPHA:646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0001265 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0001605 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0001608 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0001761 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0002093 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0002650 ORPHA:640 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0003401 ORPHA:640 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0003431 ORPHA:640 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0006824 ORPHA:640 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:640 Hereditary neuropathy with liability to pressure palsies HP:0009830 ORPHA:640 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0010617 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0010618 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0011330 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0011968 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000238 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000343 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000494 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000684 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0001250 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0002119 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0002308 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0002808 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0003196 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0005616 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0005692 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0009894 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0010442 ORPHA:77301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000098 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000160 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000202 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000243 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000256 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000286 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000369 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000470 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000486 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000488 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000518 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000568 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000752 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000767 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000772 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0000925 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0001249 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0001252 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0001263 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0001520 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0001537 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0002671 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0002885 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0005462 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0010603 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0010610 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0010612 ORPHA:77301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0002667 ORPHA:77301 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77301 Monosomy 9q22.3 HP:0002859 ORPHA:77301 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0002002 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0002566 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0002808 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0007894 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0010880 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0100277 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000202 ORPHA:77300 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0011340 ORPHA:77300 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000252 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000347 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000369 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000377 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000430 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000431 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000457 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000545 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000572 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000587 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000639 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000767 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000891 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0001357 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000742 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000970 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001249 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002726 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002754 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003134 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0007021 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0010829 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0011136 ORPHA:642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000958 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000987 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001328 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001954 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002355 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002661 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002821 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003091 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0005368 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0006480 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0012170 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0025615 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100491 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100537 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100725 ORPHA:642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000736 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000752 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000978 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001279 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001510 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001903 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0001955 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002015 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002100 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002270 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002936 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003028 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003095 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003272 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0003474 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0004302 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0004926 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0008000 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0009085 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0010885 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0011968 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0030757 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0030811 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100710 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100712 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100851 ORPHA:642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000559 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0000975 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0002045 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0012622 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0012804 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:642 Hereditary sensory and autonomic neuropathy type 4 HP:0100963 ORPHA:642 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000648 ORPHA:324737 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001249 ORPHA:324737 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001263 ORPHA:324737 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0003642 ORPHA:324737 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000518 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000572 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000589 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000639 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001251 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001317 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001935 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001999 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0007766 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0008064 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0008947 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0012443 ORPHA:324737 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000510 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000821 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000824 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000982 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000998 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001250 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001272 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001928 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001976 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0002334 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0002808 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0002910 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0005107 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0005585 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0030680 ORPHA:324737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000365 ORPHA:324737 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0000677 ORPHA:324737 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:324737 SRD5A3-CDG HP:0001595 ORPHA:324737 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0009063 ORPHA:641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0001315 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0002380 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0002922 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0003323 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0003394 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0003690 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0004302 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0004345 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0006251 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0009077 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:641 Multifocal motor neuropathy HP:0012078 ORPHA:641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000028 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000154 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000175 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000204 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000219 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000252 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000319 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000369 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000384 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000407 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000413 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000463 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000494 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000722 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000750 ORPHA:261236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000767 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0001263 ORPHA:261236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0001274 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0001276 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0001328 ORPHA:261236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0001360 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0001629 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0001631 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0001762 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0002020 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0002119 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0002197 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0002263 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0002269 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0002353 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0003196 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0004322 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0005280 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0009914 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0010508 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0010864 ORPHA:261236 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0011968 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0100490 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0100716 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0100753 ORPHA:261236 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0000819 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0001272 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0002059 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0002066 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0002522 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0004322 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0004325 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0006827 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0007108 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0007141 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0007366 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0008619 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0010871 ORPHA:445062 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0001256 ORPHA:445062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0003487 ORPHA:445062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0000648 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001138 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001256 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001257 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001347 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001762 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0002061 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0002079 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0002313 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0002936 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0003202 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0003383 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0003448 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0003484 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0003487 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0007010 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0007042 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0007340 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0007663 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0008963 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0009027 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0009830 ORPHA:320375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0000486 ORPHA:320375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0000602 ORPHA:320375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0001999 ORPHA:320375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0002804 ORPHA:320375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320375 Autosomal recessive spastic paraplegia type 55 HP:0100543 ORPHA:320375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1094 Anonychia-microcephaly syndrome HP:0000164 ORPHA:1094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1094 Anonychia-microcephaly syndrome HP:0000252 ORPHA:1094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1094 Anonychia-microcephaly syndrome HP:0000340 ORPHA:1094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1094 Anonychia-microcephaly syndrome HP:0000670 ORPHA:1094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1094 Anonychia-microcephaly syndrome HP:0001798 ORPHA:1094 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1094 Anonychia-microcephaly syndrome HP:0004209 ORPHA:1094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1094 Anonychia-microcephaly syndrome HP:0007598 ORPHA:1094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1094 Anonychia-microcephaly syndrome HP:0010624 ORPHA:1094 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309108 Pancreatic colipase deficiency HP:0001081 ORPHA:309108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309108 Pancreatic colipase deficiency HP:0001510 ORPHA:309108 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:309108 Pancreatic colipase deficiency HP:0001738 ORPHA:309108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309108 Pancreatic colipase deficiency HP:0001889 ORPHA:309108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309108 Pancreatic colipase deficiency HP:0002028 ORPHA:309108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309108 Pancreatic colipase deficiency HP:0002570 ORPHA:309108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309108 Pancreatic colipase deficiency HP:0002630 ORPHA:309108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000027 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000054 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000077 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000105 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000135 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000204 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000212 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000141 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000238 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000293 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000365 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000520 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000534 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000771 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000819 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000823 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000953 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0008064 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0000998 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0001084 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0001256 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0001433 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0001596 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0001763 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0001822 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0001935 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0001954 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0002024 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0002110 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0002155 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0002257 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0002619 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0002716 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0002750 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0002757 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0002797 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0004322 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0003765 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0001347 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0007380 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0008734 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0009125 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0011025 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0012385 ORPHA:168569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0012724 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0030053 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0100324 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0100727 ORPHA:168569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0100776 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168569 H syndrome HP:0100790 ORPHA:168569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0002064 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0002313 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0002355 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0002460 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0003487 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0003693 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0007010 ORPHA:320370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0001257 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0001290 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0001348 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0001761 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0002495 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0003438 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0006380 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0006466 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0007083 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320370 Autosomal recessive spastic paraplegia type 43 HP:0012785 ORPHA:320370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0030430 ORPHA:637 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000407 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000478 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0002196 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0002858 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0007663 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0007787 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0009589 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0009593 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0010302 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0100009 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0100963 ORPHA:637 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000238 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000360 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000572 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000587 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000618 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000646 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000651 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000763 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0000953 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0001250 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0001260 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0001269 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0001271 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0001317 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0002015 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0002172 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0002317 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0002354 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0002512 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0002888 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0003474 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0006824 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0008069 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0009027 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0009594 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0009831 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0010628 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0031189 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0100010 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0100014 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0100019 ORPHA:637 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0002381 ORPHA:637 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0007968 ORPHA:637 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0009592 ORPHA:637 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:637 Full NF2-related schwannomatosis HP:0009733 ORPHA:637 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000028 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000098 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000364 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000365 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000478 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000504 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000520 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001100 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001251 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001480 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002167 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002315 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002354 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002652 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002757 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002857 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0003100 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0003401 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000707 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000823 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000995 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001012 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001256 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001328 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001482 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002808 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002858 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0007440 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0007565 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0008069 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0009592 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0009732 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0009737 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0012733 ORPHA:636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0007018 ORPHA:636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000238 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000256 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000492 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000501 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000505 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000512 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000518 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000545 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000567 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000818 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000822 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000826 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0000924 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001053 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001250 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001387 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0001909 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002086 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002650 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002664 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002666 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0002970 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0003272 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0004322 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0005506 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0007378 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0007703 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0007957 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0009735 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0010786 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0010935 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0011362 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0100242 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:636 Neurofibromatosis type 1 HP:0100545 ORPHA:636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0002166 ORPHA:639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0007133 ORPHA:639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0011402 ORPHA:639 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0002936 ORPHA:639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0003693 ORPHA:639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0005508 ORPHA:639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0007220 ORPHA:639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0100287 ORPHA:639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0006865 ORPHA:639 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000028 ORPHA:638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000271 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000316 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000368 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000465 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000494 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000508 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0000765 ORPHA:638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0001328 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0001639 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0001642 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0002015 ORPHA:638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0003010 ORPHA:638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0004322 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0007565 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0009023 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0011039 ORPHA:638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:638 Neurofibromatosis-Noonan syndrome HP:0100763 ORPHA:638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0000347 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0000348 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0000457 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0000592 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0000684 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0000691 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0000818 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0000823 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0000929 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0000966 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0001156 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0001249 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0001270 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0001620 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0001831 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0001943 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0001956 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0001999 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0002750 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0002758 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0003124 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0003510 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0005281 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0007495 ORPHA:633 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0008736 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0009804 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0009811 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0009891 ORPHA:633 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:633 Laron syndrome HP:0009924 ORPHA:633 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0002921 ORPHA:449427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0010652 ORPHA:449427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0002315 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0002922 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0007340 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0011227 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0012531 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0032300 ORPHA:449427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0000123 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0000246 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0000572 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0000587 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0000651 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0000738 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0001250 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0001268 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0001289 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0001733 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0002015 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0002088 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0002094 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0002176 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0002381 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0002385 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0002840 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0003319 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0003419 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0003474 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0006824 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0009744 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0009911 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0010558 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0011850 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0030833 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0045052 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:3000035 ORPHA:449427 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0000929 ORPHA:449427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0001880 ORPHA:449427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449427 IgG4-related pachymeningitis HP:0004431 ORPHA:449427 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:635 Neuroblastoma HP:0004375 ORPHA:635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:635 Neuroblastoma HP:0011976 ORPHA:635 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000013 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000026 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000055 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000133 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000142 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000150 ORPHA:168563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000786 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000789 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000837 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0001271 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0001315 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0001761 ORPHA:168563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0002460 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003130 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003134 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003202 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003376 ORPHA:168563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003434 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0003409 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0007141 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0008214 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0008715 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0008723 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0010464 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0040171 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0045010 ORPHA:168563 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0000086 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0000126 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0045075 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0000653 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0000956 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0000958 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0000964 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0000988 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0001019 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0001025 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0001249 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0001250 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0001263 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0001595 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0001944 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0002024 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0002097 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0002099 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0002205 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0002209 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0002213 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0002719 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0003212 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0003355 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0004313 ORPHA:634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0004322 ORPHA:634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0007400 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0007479 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0008064 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0009886 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:634 Netherton syndrome HP:0100326 ORPHA:634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000546 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002333 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002167 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0011209 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0003657 ORPHA:168491 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0012379 ORPHA:168491 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000618 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001268 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0007359 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0032794 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001251 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000545 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000483 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0030462 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0011194 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001336 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0010852 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002463 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0004302 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000708 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000726 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000750 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0003204 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0011167 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0010819 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0011147 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002069 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000572 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001288 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002371 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000752 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000718 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000744 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000733 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000739 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0008770 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000738 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000729 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0007663 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001250 ORPHA:168491 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002123 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002360 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002540 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001257 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0003698 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0010845 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0010841 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0010850 ORPHA:168491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0040148 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0000649 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0001272 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0002059 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0007371 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0030891 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0003208 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168491 Late infantile neuronal ceroid lipofuscinosis HP:0003205 ORPHA:168491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0000083 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0000124 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0000648 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001249 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001254 ORPHA:289916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001259 ORPHA:289916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001263 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001252 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001266 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001332 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001510 ORPHA:289916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001733 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001873 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001875 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001903 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0001987 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0002017 ORPHA:289916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0002072 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0002098 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0002240 ORPHA:289916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0004374 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0100806 ORPHA:289916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000076 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000077 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000093 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000104 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000160 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000294 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000300 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000426 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000510 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000556 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000729 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0000750 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001263 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001166 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001249 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001250 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001319 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0001513 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0002076 ORPHA:261222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0002149 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0002251 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0002808 ORPHA:261222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0007018 ORPHA:261222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0011351 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0012450 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261222 Distal 16p11.2 microdeletion syndrome HP:0012622 ORPHA:261222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0005328 ORPHA:435628 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0009059 ORPHA:435628 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000194 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000252 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000322 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000347 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0001249 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0001347 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0100678 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000212 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000218 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000290 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000292 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000298 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000430 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000446 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000496 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000520 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000586 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0001090 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0001276 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0001285 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0001371 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0001508 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0001561 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0002093 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0002094 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0002179 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0002187 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0002650 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0002781 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0005274 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0006532 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0008734 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0008897 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0009125 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0009933 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0010751 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0010804 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0011344 ORPHA:435628 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0001250 ORPHA:435628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0002659 ORPHA:435628 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0000648 ORPHA:320406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002828 ORPHA:320406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0003693 ORPHA:320406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0000543 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0000975 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0001260 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0001761 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002166 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002194 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002267 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002355 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002600 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002650 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0003380 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0003477 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0007020 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0007054 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0008944 ORPHA:320406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0000639 ORPHA:320406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0002071 ORPHA:320406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0000508 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0000969 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0001695 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0001701 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0001892 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0002015 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0002094 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0002315 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0002463 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0002516 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0002721 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0002960 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0002961 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0003473 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0006597 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0012735 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0100521 ORPHA:100100 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0100540 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0100634 ORPHA:100100 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0100721 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100100 Thymic tumor HP:0100749 ORPHA:100100 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0000077 ORPHA:284227 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0001009 ORPHA:284227 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0001899 ORPHA:284227 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0003237 ORPHA:284227 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0012418 ORPHA:284227 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0001028 ORPHA:284227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0001541 ORPHA:284227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0004930 ORPHA:284227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0011920 ORPHA:284227 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0001901 ORPHA:284227 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0002170 ORPHA:284227 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0004936 ORPHA:284227 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0001041 ORPHA:284227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284227 TEMPI syndrome HP:0002315 ORPHA:284227 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0000505 ORPHA:254930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0000648 ORPHA:254930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0003202 ORPHA:254930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0000602 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001123 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001263 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001508 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001761 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002313 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002355 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002395 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002936 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0003477 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0003693 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0007256 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0007340 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0031629 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0100543 ORPHA:254930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0000508 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0000639 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001251 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001260 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001283 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001284 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0001349 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002079 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002376 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002500 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002540 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002590 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0002943 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0003380 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0003484 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0005216 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0007641 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0008947 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0011471 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0012696 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0012707 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0012747 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0020049 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254930 Combined oxidative phosphorylation defect type 7 HP:0200136 ORPHA:254930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0000486 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0000649 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0001251 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0001260 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0001761 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0002061 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0003429 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0006958 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0007377 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0012896 ORPHA:320401 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0000407 ORPHA:320401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0001250 ORPHA:320401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0002355 ORPHA:320401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0002839 ORPHA:320401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0003474 ORPHA:320401 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320401 Autosomal recessive spastic paraplegia type 44 HP:0002194 ORPHA:320401 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0001945 ORPHA:707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002840 ORPHA:707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0012378 ORPHA:707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0000739 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0000958 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0001649 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0001744 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002039 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002240 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002315 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0004372 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0008066 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0011355 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0025143 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0030953 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0031258 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0031864 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0100749 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0200042 ORPHA:707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0000206 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0000365 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0000716 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0000969 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0000988 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0001259 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0001350 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0001892 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002013 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002014 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002027 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002037 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002098 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002105 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002248 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002317 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002615 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0002829 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0004387 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0009811 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0011499 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0011675 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0011949 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0012219 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0025043 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0025085 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0040181 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0100806 ORPHA:707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0001287 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0001324 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0001369 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0025439 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0100533 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:707 Plague HP:0100584 ORPHA:707 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000219 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000248 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000276 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000311 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000343 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000347 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000470 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000501 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000659 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001156 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001249 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001263 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001511 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001773 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001831 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0002000 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0002263 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0002983 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0004209 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0007833 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0007957 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0008873 ORPHA:709 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000028 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000047 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000175 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000204 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000238 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000316 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000384 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000465 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000482 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000504 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000518 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000582 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000639 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000687 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001558 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001642 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001671 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001770 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0002007 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0004322 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0004414 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0004467 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0008569 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0008872 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0008897 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0011220 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0012745 ORPHA:709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000003 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000013 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000023 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000060 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000073 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000075 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000126 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000154 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000252 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000368 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000405 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000463 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000505 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000648 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000830 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000851 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000960 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001537 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001561 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0001643 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0002023 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0002119 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0002120 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0003196 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0003298 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0005280 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0006610 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0007370 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0000612 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0008678 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0008905 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0100819 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0004383 ORPHA:709 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0005182 ORPHA:709 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:709 Peters plus syndrome HP:0030968 ORPHA:709 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:708 Peters anomaly HP:0000659 ORPHA:708 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:708 Peters anomaly HP:0000523 ORPHA:708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:708 Peters anomaly HP:0007759 ORPHA:708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:708 Peters anomaly HP:0011483 ORPHA:708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:708 Peters anomaly HP:0011493 ORPHA:708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:708 Peters anomaly HP:0031159 ORPHA:708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:708 Peters anomaly HP:0001087 ORPHA:708 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:708 Peters anomaly HP:0000486 ORPHA:708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:708 Peters anomaly HP:0000639 ORPHA:708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:703 Bullous pemphigoid HP:0000819 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:703 Bullous pemphigoid HP:0000964 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:703 Bullous pemphigoid HP:0001025 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:703 Bullous pemphigoid HP:0001824 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:703 Bullous pemphigoid HP:0002719 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:703 Bullous pemphigoid HP:0002960 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:703 Bullous pemphigoid HP:0003765 ORPHA:703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:703 Bullous pemphigoid HP:0008066 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:703 Bullous pemphigoid HP:0010783 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:703 Bullous pemphigoid HP:0012733 ORPHA:703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0001822 ORPHA:93397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0001852 ORPHA:93397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0004691 ORPHA:93397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0009843 ORPHA:93397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0010109 ORPHA:93397 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0004209 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0008096 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0009464 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0009467 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0009523 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0009536 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0009576 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0009642 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0009700 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0010348 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0011304 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93397 Brachydactyly type A7 HP:0100394 ORPHA:93397 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0000079 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0000252 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0000365 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0000505 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0000639 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0000648 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0000649 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0000708 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001249 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001250 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001251 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001252 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001257 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001266 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001288 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001332 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001387 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001531 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0001622 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0002093 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0002120 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0002167 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0002205 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0002376 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0002607 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0002650 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0002808 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0004322 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0004326 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0009830 ORPHA:702 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0100022 ORPHA:702 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0100026 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0000359 ORPHA:705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0000407 ORPHA:705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0008586 ORPHA:705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0011387 ORPHA:705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0000821 ORPHA:705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0000853 ORPHA:705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0000112 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0000843 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0001249 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0001251 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0002093 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0002167 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0002321 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0002777 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:705 Pendred syndrome HP:0002890 ORPHA:705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:704 Pemphigus vulgaris HP:0000163 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:704 Pemphigus vulgaris HP:0000987 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:704 Pemphigus vulgaris HP:0001025 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:704 Pemphigus vulgaris HP:0001824 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:704 Pemphigus vulgaris HP:0002719 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:704 Pemphigus vulgaris HP:0002960 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:704 Pemphigus vulgaris HP:0008066 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:704 Pemphigus vulgaris HP:0008872 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:704 Pemphigus vulgaris HP:0100792 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:704 Pemphigus vulgaris HP:0100838 ORPHA:704 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93396 Brachydactyly type A2 HP:0001773 ORPHA:93396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93396 Brachydactyly type A2 HP:0004209 ORPHA:93396 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93396 Brachydactyly type A2 HP:0004220 ORPHA:93396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93396 Brachydactyly type A2 HP:0005819 ORPHA:93396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93396 Brachydactyly type A2 HP:0009372 ORPHA:93396 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93396 Brachydactyly type A2 HP:0009568 ORPHA:93396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93396 Brachydactyly type A2 HP:0010038 ORPHA:93396 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:701 Alopecia universalis HP:0000561 ORPHA:701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:701 Alopecia universalis HP:0002223 ORPHA:701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:701 Alopecia universalis HP:0002232 ORPHA:701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:701 Alopecia universalis HP:0002289 ORPHA:701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000280 ORPHA:93399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000943 ORPHA:93399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001263 ORPHA:93399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0003271 ORPHA:93399 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000365 ORPHA:93399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000518 ORPHA:93399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001250 ORPHA:93399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0008947 ORPHA:93399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0010729 ORPHA:93399 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000023 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000077 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000212 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000369 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000486 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000572 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000639 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0000648 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001251 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001257 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001270 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001310 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001336 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001433 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001537 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001618 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0001627 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0002015 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0002061 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0002086 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0002123 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0002240 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0003312 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0004554 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0002505 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0007957 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0009891 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0010808 ORPHA:93399 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93399 Juvenile sialidosis type 2 HP:0010864 ORPHA:93399 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:700 Alopecia totalis HP:0001596 ORPHA:700 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:700 Alopecia totalis HP:0002293 ORPHA:700 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93394 Brachydactyly type A4 HP:0001762 ORPHA:93394 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93394 Brachydactyly type A4 HP:0004220 ORPHA:93394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93394 Brachydactyly type A4 HP:0004322 ORPHA:93394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93394 Brachydactyly type A4 HP:0006239 ORPHA:93394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93394 Brachydactyly type A4 HP:0009577 ORPHA:93394 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93394 Brachydactyly type A4 HP:0009773 ORPHA:93394 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000194 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000202 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000276 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000286 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000308 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000348 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000365 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000369 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000377 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000389 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000414 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000463 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000486 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000490 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000494 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000581 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000601 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000750 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0000752 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0001252 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0001263 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0001511 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0001770 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0002007 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0002020 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0002342 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0002360 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0003189 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0003196 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0004279 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0004322 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0005180 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0005285 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0007328 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0007565 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0007598 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0009623 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0010535 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0011675 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0011968 ORPHA:261211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0012368 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0100033 ORPHA:261211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261211 16p11.2p12.2 microdeletion syndrome HP:0100490 ORPHA:261211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1195 Congenital atransferrinemia HP:0000821 ORPHA:1195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1195 Congenital atransferrinemia HP:0001369 ORPHA:1195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1195 Congenital atransferrinemia HP:0001626 ORPHA:1195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1195 Congenital atransferrinemia HP:0001732 ORPHA:1195 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1195 Congenital atransferrinemia HP:0001903 ORPHA:1195 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1195 Congenital atransferrinemia HP:0002719 ORPHA:1195 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0002155 ORPHA:140905 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0012184 ORPHA:140905 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0001013 ORPHA:140905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0001681 ORPHA:140905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0005181 ORPHA:140905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000028 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000047 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000077 ORPHA:1194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000154 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000252 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000278 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000322 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000369 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001250 ORPHA:1194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001252 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001371 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001510 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001511 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001522 ORPHA:1194 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001562 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001635 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001639 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001641 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001646 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0001987 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0002120 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0002240 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0002342 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0002383 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0002878 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0003535 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0007370 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0011343 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0011675 ORPHA:1194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0100490 ORPHA:1194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000053 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000164 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000232 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000256 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000280 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000316 ORPHA:1193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000336 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000337 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000400 ORPHA:1193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000455 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0000463 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0001249 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0001513 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0001593 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0004322 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1193 Atkin-Flaitz syndrome HP:0012471 ORPHA:1193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000028 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000093 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000100 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000112 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000407 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000822 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001276 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001288 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001327 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001337 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001376 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001633 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001903 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0002120 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0002344 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0003287 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0003307 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0004322 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0001677 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0007201 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0007360 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0100545 ORPHA:1192 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0100651 ORPHA:1192 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140908 Brachydactyly type B2 HP:0001773 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140908 Brachydactyly type B2 HP:0001817 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140908 Brachydactyly type B2 HP:0001831 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140908 Brachydactyly type B2 HP:0001857 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140908 Brachydactyly type B2 HP:0005048 ORPHA:140908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140908 Brachydactyly type B2 HP:0005831 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140908 Brachydactyly type B2 HP:0006101 ORPHA:140908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140908 Brachydactyly type B2 HP:0009773 ORPHA:140908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140908 Brachydactyly type B2 HP:0009882 ORPHA:140908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0000774 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0001156 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0001762 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0002089 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0002991 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0003097 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0003417 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0004599 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0005257 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0008905 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0009107 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0009826 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0011800 ORPHA:1190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0000175 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0000316 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0000347 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0000369 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0000506 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0000520 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0000926 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0001373 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0001561 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0001602 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0002280 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0002650 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0003026 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0004785 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0004894 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0005562 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0007973 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0008857 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1190 Atelosteogenesis type I HP:0030992 ORPHA:1190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000713 ORPHA:276608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000825 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000842 ORPHA:276608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000975 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000980 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001249 ORPHA:276608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001250 ORPHA:276608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001254 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001259 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0002315 ORPHA:276608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001337 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001649 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0001985 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0002329 ORPHA:276608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0002344 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0003162 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0003324 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0004324 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0004510 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0012051 ORPHA:276608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0012378 ORPHA:276608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0000707 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0002196 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0004947 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0012703 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0012721 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0040272 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0100561 ORPHA:79093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0001284 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0001324 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0001347 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0003418 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0007199 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0012486 ORPHA:79093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0000009 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0000011 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0000016 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0000020 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0002141 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0002317 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0002355 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0002359 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0002607 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0003401 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0003419 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0003474 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0007340 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0009053 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0012423 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0012534 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0030014 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0040307 ORPHA:79093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0002318 ORPHA:79093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79093 Foix-Alajouanine syndrome HP:0008944 ORPHA:79093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79094 Grange syndrome HP:0000822 ORPHA:79094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79094 Grange syndrome HP:0001159 ORPHA:79094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79094 Grange syndrome HP:0001328 ORPHA:79094 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79094 Grange syndrome HP:0001629 ORPHA:79094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79094 Grange syndrome HP:0001643 ORPHA:79094 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79094 Grange syndrome HP:0001659 ORPHA:79094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79094 Grange syndrome HP:0002659 ORPHA:79094 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79094 Grange syndrome HP:0004279 ORPHA:79094 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79094 Grange syndrome HP:0006889 ORPHA:79094 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79094 Grange syndrome HP:0100545 ORPHA:79094 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002575 ORPHA:1199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001531 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002013 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002015 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002091 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002205 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002579 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0003781 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0006510 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0008872 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0010963 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0012387 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0012523 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0100326 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0100633 ORPHA:1199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000079 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000119 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000961 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000980 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001510 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001518 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001561 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001604 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001607 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002020 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002021 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002098 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002835 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0003468 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0004885 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0008755 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0012252 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0012718 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0012732 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0030084 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0030680 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0040064 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0003011 ORPHA:1199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000104 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000175 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000365 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000453 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000589 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000598 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0000811 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001252 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001276 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001539 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001629 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001636 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001680 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0001999 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002089 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002247 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002566 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002650 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0002672 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0008751 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0009800 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0100580 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1199 Esophageal atresia HP:0410030 ORPHA:1199 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1198 Colonic atresia HP:0001539 ORPHA:1198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1198 Colonic atresia HP:0001543 ORPHA:1198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1198 Colonic atresia HP:0003270 ORPHA:1198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1198 Colonic atresia HP:0003363 ORPHA:1198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1198 Colonic atresia HP:0004398 ORPHA:1198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1198 Colonic atresia HP:0010448 ORPHA:1198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1198 Colonic atresia HP:0100016 ORPHA:1198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1198 Colonic atresia HP:0100867 ORPHA:1198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0003236 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0005978 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0011892 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0030516 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0100753 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0200084 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0012379 ORPHA:79095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0000580 ORPHA:79095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001250 ORPHA:79095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001298 ORPHA:79095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001328 ORPHA:79095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0007141 ORPHA:79095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0000135 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0000518 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0000716 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0000763 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001081 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001251 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001268 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0001337 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002076 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002354 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002401 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002573 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002611 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0002910 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79095 Congenital bile acid synthesis defect type 4 HP:0003201 ORPHA:79095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0002133 ORPHA:79096 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0200134 ORPHA:79096 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0000496 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001250 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001263 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001276 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001336 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001508 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001560 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001622 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001942 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0001943 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0002151 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0002283 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0002317 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0003785 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0005961 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0008936 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010851 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0011968 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0025430 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0030917 ORPHA:79096 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0000252 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0005522 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010895 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010900 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010904 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010909 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0010917 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0001250 ORPHA:79097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0001251 ORPHA:79097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0001263 ORPHA:79097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0012446 ORPHA:79097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0000708 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0000729 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0001272 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0001298 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002098 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0003270 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0004302 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0006808 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0010841 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0010845 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0012448 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0040204 ORPHA:79097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0000407 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0000545 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0000648 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0000737 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0001276 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0001285 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0001332 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0001347 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002072 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002104 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002123 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002133 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002136 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002355 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002360 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002376 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002465 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0002521 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0006892 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0010819 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0020221 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79097 Folinic acid-responsive seizures HP:0100022 ORPHA:79097 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93387 Brachydactyly type E HP:0000256 ORPHA:93387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93387 Brachydactyly type E HP:0002007 ORPHA:93387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93387 Brachydactyly type E HP:0004322 ORPHA:93387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93387 Brachydactyly type E HP:0005692 ORPHA:93387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93387 Brachydactyly type E HP:0005863 ORPHA:93387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93387 Brachydactyly type E HP:0009882 ORPHA:93387 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93387 Brachydactyly type E HP:0010049 ORPHA:93387 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93387 Brachydactyly type E HP:0010076 ORPHA:93387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93387 Brachydactyly type E HP:0010743 ORPHA:93387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93387 Brachydactyly type E HP:0100560 ORPHA:93387 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0001370 ORPHA:79099 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0010783 ORPHA:79099 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0003565 ORPHA:79099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0011123 ORPHA:79099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0011227 ORPHA:79099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0200034 ORPHA:79099 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0002923 ORPHA:79099 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79099 Interstitial granulomatous dermatitis with arthritis HP:0000989 ORPHA:79099 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0001231 ORPHA:93384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0004209 ORPHA:93384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0004322 ORPHA:93384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0005819 ORPHA:93384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0009373 ORPHA:93384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0009465 ORPHA:93384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0009495 ORPHA:93384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0009606 ORPHA:93384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0009684 ORPHA:93384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0009773 ORPHA:93384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0010026 ORPHA:93384 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0010508 ORPHA:93384 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0010579 ORPHA:93384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93384 Brachydactyly type C HP:0010743 ORPHA:93384 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0001204 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0001230 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0001762 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0001773 ORPHA:93388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0002650 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0003022 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0004209 ORPHA:93388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0004322 ORPHA:93388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0005819 ORPHA:93388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0009778 ORPHA:93388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0010109 ORPHA:93388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93388 Brachydactyly type A1 HP:0010579 ORPHA:93388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0000218 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001270 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001284 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001290 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001763 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003198 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003325 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003403 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003473 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003701 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0030191 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0030202 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0030205 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0100301 ORPHA:353327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0000508 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001371 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0001388 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002355 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002359 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002421 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002515 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002650 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002938 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003200 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003236 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003388 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003391 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003394 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003551 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003691 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0003803 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0006380 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0009028 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0009046 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0010628 ORPHA:353327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect HP:0002460 ORPHA:353327 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000047 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000175 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000252 ORPHA:261204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000545 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000709 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000717 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000767 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0001249 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0001250 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0001263 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0001332 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0002463 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0007018 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0100753 ORPHA:261204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000083 ORPHA:730 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000107 ORPHA:730 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0001407 ORPHA:730 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0003259 ORPHA:730 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012213 ORPHA:730 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000790 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000822 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0003774 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012531 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012591 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012592 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012622 ORPHA:730 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000010 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000105 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0000787 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0001634 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0001737 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0002616 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0004944 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0006557 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0011004 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012207 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0012330 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0100702 ORPHA:730 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:730 Autosomal dominant polycystic kidney disease HP:0011760 ORPHA:730 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0001508 ORPHA:92050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0002024 ORPHA:92050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0002028 ORPHA:92050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0011473 ORPHA:92050 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0000737 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0001824 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0001944 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0002570 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0003270 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0005208 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0025129 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0032486 ORPHA:92050 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0000518 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0000613 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0000951 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0001369 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0025090 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0200020 ORPHA:92050 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0000202 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0000453 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0000588 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0002013 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0002023 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0002611 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0002652 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:92050 Congenital tufting enteropathy HP:0011859 ORPHA:92050 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93383 Brachydactyly type B HP:0001773 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93383 Brachydactyly type B HP:0001817 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93383 Brachydactyly type B HP:0005831 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93383 Brachydactyly type B HP:0008083 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93383 Brachydactyly type B HP:0009882 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93383 Brachydactyly type B HP:0010049 ORPHA:93383 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93383 Brachydactyly type B HP:0005048 ORPHA:93383 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93383 Brachydactyly type B HP:0006101 ORPHA:93383 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93383 Brachydactyly type B HP:0009773 ORPHA:93383 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93383 Brachydactyly type B HP:0010059 ORPHA:93383 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0000164 ORPHA:1184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0000218 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0000486 ORPHA:1184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0000958 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0000992 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0001025 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0001251 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0001288 ORPHA:1184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0001315 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0030680 ORPHA:1184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0002967 ORPHA:1184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0004209 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0004322 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0007598 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0100022 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1184 Ataxia-photosensitivity-short stature syndrome HP:0100543 ORPHA:1184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0000570 ORPHA:1183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0001251 ORPHA:1183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0001336 ORPHA:1183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0002360 ORPHA:1183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0010543 ORPHA:1183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0000708 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0000737 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0002321 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0002664 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0003006 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0045084 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0100543 ORPHA:1183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0001298 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0002063 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0002861 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0003002 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0012226 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0030057 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0030357 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0031035 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1183 Opsoclonus-myoclonus syndrome HP:0100526 ORPHA:1183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1182 Spastic ataxia with congenital miosis HP:0000639 ORPHA:1182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1182 Spastic ataxia with congenital miosis HP:0001250 ORPHA:1182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1182 Spastic ataxia with congenital miosis HP:0001251 ORPHA:1182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1182 Spastic ataxia with congenital miosis HP:0001260 ORPHA:1182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1182 Spastic ataxia with congenital miosis HP:0001347 ORPHA:1182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1182 Spastic ataxia with congenital miosis HP:0002497 ORPHA:1182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1182 Spastic ataxia with congenital miosis HP:0004374 ORPHA:1182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1182 Spastic ataxia with congenital miosis HP:0007728 ORPHA:1182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome HP:0000044 ORPHA:1180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome HP:0001251 ORPHA:1180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome HP:0001135 ORPHA:1180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000956 ORPHA:140936 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000966 ORPHA:140936 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0008070 ORPHA:140936 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000153 ORPHA:140936 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000221 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000668 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000972 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0001249 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0008404 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0010802 ORPHA:140936 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000276 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000303 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000577 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000582 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0000670 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0001045 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0001620 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0005338 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0007646 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0008388 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0011367 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140936 Lelis syndrome HP:0011800 ORPHA:140936 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0000347 ORPHA:140941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0000823 ORPHA:140941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0002750 ORPHA:140941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0000855 ORPHA:140941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0001510 ORPHA:140941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0001956 ORPHA:140941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140941 Short stature due to primary acid-labile subunit deficiency HP:0030353 ORPHA:140941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0000174 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0000407 ORPHA:1188 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0000486 ORPHA:1188 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0000639 ORPHA:1188 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0000762 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0001249 ORPHA:1188 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0001251 ORPHA:1188 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0001252 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0001315 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0002119 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0002120 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0002167 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0002650 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0003202 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0003457 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0005692 ORPHA:1188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1188 Ataxia-deafness-intellectual disability syndrome HP:0007360 ORPHA:1188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0000225 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0000360 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0000421 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0000822 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0000978 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0000989 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0001297 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0001409 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0001681 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0001744 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0001824 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002027 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002093 ORPHA:729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002204 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002239 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002240 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002315 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002321 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002488 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002639 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002829 ORPHA:729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0002863 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0004417 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0004420 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0004936 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0011974 ORPHA:729 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0012378 ORPHA:729 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:729 Polycythemia vera HP:0030242 ORPHA:729 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000822 ORPHA:79083 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000855 ORPHA:79083 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0100578 ORPHA:79083 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000819 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000831 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000991 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0002155 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0002240 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003635 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003712 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0008065 ORPHA:79083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000869 ORPHA:79083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000963 ORPHA:79083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0002621 ORPHA:79083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003712 ORPHA:79083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000147 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000292 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000876 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000956 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001397 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001635 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001639 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001677 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001733 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001744 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0002149 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0002230 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003198 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003326 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0003707 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0009800 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0012084 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0100607 ORPHA:79083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0000786 ORPHA:79083 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0001394 ORPHA:79083 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79083 PPARG-related familial partial lipodystrophy HP:0007457 ORPHA:79083 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0000083 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0000093 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0000407 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0000491 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0000509 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0000518 ORPHA:728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0000554 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0000790 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0000979 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0001369 ORPHA:728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0001376 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0001545 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0001596 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0001601 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0001646 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0001701 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0002094 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0002321 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0002617 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0002793 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0002829 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0004306 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0004418 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0004422 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0004936 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0005310 ORPHA:728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0006824 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0010783 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0011107 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0012115 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0012733 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0012735 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0012819 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0100532 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0100533 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0100534 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0100662 ORPHA:728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0100750 ORPHA:728 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0100758 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0100820 ORPHA:728 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:728 Relapsing polychondritis HP:0200047 ORPHA:728 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000147 ORPHA:79084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000819 ORPHA:79084 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000822 ORPHA:79084 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000842 ORPHA:79084 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000855 ORPHA:79084 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000956 ORPHA:79084 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0000991 ORPHA:79084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0001397 ORPHA:79084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0001677 ORPHA:79084 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0001733 ORPHA:79084 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0002240 ORPHA:79084 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79084 Familial partial lipodystrophy, Köbberling type HP:0100578 ORPHA:79084 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0000505 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0000618 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0000648 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0001324 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0002300 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0002719 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0002788 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0003431 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0003444 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0007258 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0007377 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0008527 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0030272 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0032169 ORPHA:1187 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0000467 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0000639 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0001251 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0001256 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0001270 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0001284 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0002342 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0002445 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0003537 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0004887 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0008311 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0008936 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0009830 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0011185 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0011476 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1187 Lethal ataxia with deafness and optic atrophy HP:0012389 ORPHA:1187 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0000365 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0000602 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0000648 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0001251 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0001315 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0002270 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1186 Infantile-onset spinocerebellar ataxia HP:0100022 ORPHA:1186 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0000855 ORPHA:79085 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0009125 ORPHA:79085 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0000956 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0001397 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0002155 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0002240 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0003292 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0003077 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0008993 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0030685 ORPHA:79085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0000147 ORPHA:79085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0000831 ORPHA:79085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79085 AKT2-related familial partial lipodystrophy HP:0000876 ORPHA:79085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000256 ORPHA:1185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000268 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000286 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000337 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000368 ORPHA:1185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000463 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000508 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000520 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000639 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000648 ORPHA:1185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0000974 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0001252 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0001263 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0002208 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0002714 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0002816 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0002967 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0003100 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0003196 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0003298 ORPHA:1185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0003457 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0004322 ORPHA:1185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0004349 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0005692 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0007360 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome HP:0012471 ORPHA:1185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0009064 ORPHA:79086 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0000842 ORPHA:79086 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0000855 ORPHA:79086 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0000831 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0001397 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0001638 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0002960 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0003119 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0003707 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0005328 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0011025 ORPHA:79086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0000093 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0000147 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0000822 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0000956 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0001394 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0001735 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0002155 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0002230 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0002240 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0003198 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0005339 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0005616 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0007440 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0012490 ORPHA:79086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0002665 ORPHA:79086 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0009592 ORPHA:79086 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79086 Acquired generalized lipodystrophy HP:0012064 ORPHA:79086 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0100578 ORPHA:79087 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0000365 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0001249 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0001250 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0002960 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0003198 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0005328 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0005421 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0100827 ORPHA:79087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0000093 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0000855 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0001397 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0002230 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0002721 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0002829 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0002907 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79087 Acquired partial lipodystrophy HP:0100820 ORPHA:79087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0001250 ORPHA:725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0011182 ORPHA:725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0031491 ORPHA:725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0001249 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0002069 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0002349 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0002376 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0002384 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0006813 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0007270 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0007359 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0011153 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0012010 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0012557 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0100543 ORPHA:725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0000718 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0000729 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0001332 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0001345 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0002266 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0002312 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0002333 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0002381 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0002487 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0009088 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0010819 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0011098 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0011147 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0011150 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:725 Continuous spikes and waves during sleep HP:0012001 ORPHA:725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0001879 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0001945 ORPHA:724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002027 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002093 ORPHA:724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002103 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002091 ORPHA:724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002113 ORPHA:724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0002793 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0003326 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0012735 ORPHA:724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:724 Idiopathic acute eosinophilic pneumonia HP:0100749 ORPHA:724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002668 ORPHA:276621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0006737 ORPHA:276621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0006748 ORPHA:276621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000093 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000096 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000740 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001069 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001095 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001342 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001618 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001824 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001962 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002018 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002331 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002574 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002640 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0002864 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0003072 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0003345 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0003574 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0003639 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0008629 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0010532 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0011703 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0011979 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0012378 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0031284 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0100749 ORPHA:276621 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000405 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000790 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0000980 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001293 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001337 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001605 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0001635 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma HP:0025269 ORPHA:276621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0000083 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0000246 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0000421 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0000554 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0000790 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0000965 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0000988 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0001369 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0001482 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0001635 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0001701 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0001733 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0001933 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0001945 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0002014 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0002017 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0002027 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0002105 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0002239 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0002586 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0002633 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0002829 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0002960 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0003326 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0003401 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0004936 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0005244 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0008046 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0009830 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0010783 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0011675 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0012649 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0100520 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0100534 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0100758 ORPHA:727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0100820 ORPHA:727 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:727 Microscopic polyangiitis HP:0200042 ORPHA:727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0000252 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0000478 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0000504 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0000618 ORPHA:726 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0001251 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0001252 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0001257 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0001259 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0001263 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0001266 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0001284 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0001336 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0002069 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0002191 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0002313 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0002376 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0002385 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0007359 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0100022 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:721 Gray platelet syndrome HP:0000978 ORPHA:721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:721 Gray platelet syndrome HP:0001872 ORPHA:721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:721 Gray platelet syndrome HP:0001873 ORPHA:721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:721 Gray platelet syndrome HP:0001892 ORPHA:721 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:721 Gray platelet syndrome HP:0000140 ORPHA:721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:721 Gray platelet syndrome HP:0000421 ORPHA:721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:721 Gray platelet syndrome HP:0001744 ORPHA:721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:721 Gray platelet syndrome HP:0002863 ORPHA:721 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:720 Pili bifurcati HP:0001595 ORPHA:720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:720 Pili bifurcati HP:0010719 ORPHA:720 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0001945 ORPHA:723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0002094 ORPHA:723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0011949 ORPHA:723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0012418 ORPHA:723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0020102 ORPHA:723 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0001824 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0002093 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0002202 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0002721 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0002875 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0002878 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0004887 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0006515 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0010702 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0011991 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0025395 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0031246 ORPHA:723 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0002664 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0005948 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0009098 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0025435 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0031863 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:723 Pneumocystosis HP:0032177 ORPHA:723 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0000478 ORPHA:722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0000504 ORPHA:722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0040228 ORPHA:722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0000212 ORPHA:722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0000230 ORPHA:722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0000137 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0000238 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0000370 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0000704 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0000787 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0000951 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0001305 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0002086 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0002588 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0011027 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:722 Hypoplasminogenemia HP:0030160 ORPHA:722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001270 ORPHA:435638 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000356 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000448 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000494 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000733 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000750 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001252 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001344 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0002002 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0005280 ORPHA:435638 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000175 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000219 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000248 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000286 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000303 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000322 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000341 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000347 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000407 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000463 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000568 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000581 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000729 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0000960 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001182 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001233 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001251 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001629 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001631 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001642 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001643 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001677 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0001845 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0002021 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0002069 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0002121 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0002123 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0002650 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0002705 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0002714 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0003086 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0003202 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0006380 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0006585 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0007018 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0009623 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0010055 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0010663 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0011304 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0012762 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435638 3p25.3 microdeletion syndrome HP:0100259 ORPHA:435638 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000044 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000135 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000144 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000248 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000512 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000639 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000648 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000708 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000726 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000751 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000771 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0000864 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0001251 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0001252 ORPHA:1173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0002167 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0002558 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0004209 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0004322 ORPHA:1173 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0004374 ORPHA:1173 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome HP:0007703 ORPHA:1173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0000407 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0000648 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001251 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001284 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001298 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001324 ORPHA:1171 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0000496 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0000729 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001250 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001332 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0001761 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0002015 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0100543 ORPHA:1171 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0000640 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0000750 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001249 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001251 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001260 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001263 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001310 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0002066 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0031936 ORPHA:1170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0000657 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001252 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001272 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001324 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001348 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001763 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0002275 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0002506 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0006855 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0007272 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0100543 ORPHA:1170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0000602 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001257 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0001337 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0002198 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0002280 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0003128 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0004322 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0009830 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3 HP:0010794 ORPHA:1170 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0008222 ORPHA:488191 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0031515 ORPHA:488191 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0031516 ORPHA:488191 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0020155 ORPHA:488191 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0000147 ORPHA:488191 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:488191 Female infertility due to oocyte meiotic arrest HP:0008669 ORPHA:488191 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1179 Benign paroxysmal tonic upgaze of childhood with ataxia HP:0000496 ORPHA:1179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1179 Benign paroxysmal tonic upgaze of childhood with ataxia HP:0000639 ORPHA:1179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1179 Benign paroxysmal tonic upgaze of childhood with ataxia HP:0002131 ORPHA:1179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001249 ORPHA:572798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001263 ORPHA:572798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0008947 ORPHA:572798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0100022 ORPHA:572798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000718 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001250 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001272 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001324 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001347 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001511 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002059 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002119 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002151 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002167 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002342 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002355 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002451 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002509 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002518 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0003128 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0003700 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0009062 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0012379 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0012430 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0012448 ORPHA:572798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000218 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000219 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000316 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000369 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000431 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000510 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000577 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000639 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0000646 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001251 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001310 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001320 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001337 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001344 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001638 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001873 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001998 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0001999 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002015 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002187 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002198 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002305 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002352 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002365 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002421 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0002510 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0003698 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0005656 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0006956 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0007772 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0012704 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572798 WARS2-related combined oxidative phosphorylation defect HP:0031165 ORPHA:572798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0000639 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0001251 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0001252 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0001288 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0007360 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0100543 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0000505 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0000510 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1178 Ataxia-tapetoretinal degeneration syndrome HP:0000580 ORPHA:1178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140933 Linear atrophoderma of Moulin HP:0007546 ORPHA:140933 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:140933 Linear atrophoderma of Moulin HP:0000989 ORPHA:140933 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:140933 Linear atrophoderma of Moulin HP:0011123 ORPHA:140933 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:140933 Linear atrophoderma of Moulin HP:0030053 ORPHA:140933 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:140933 Linear atrophoderma of Moulin HP:0100324 ORPHA:140933 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:718 Isolated Pierre Robin syndrome HP:0000162 ORPHA:718 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:718 Isolated Pierre Robin syndrome HP:0000175 ORPHA:718 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:718 Isolated Pierre Robin syndrome HP:0000347 ORPHA:718 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:718 Isolated Pierre Robin syndrome HP:0000600 ORPHA:718 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:718 Isolated Pierre Robin syndrome HP:0002643 ORPHA:718 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:718 Isolated Pierre Robin syndrome HP:0002781 ORPHA:718 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0002073 ORPHA:1177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0000639 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0001260 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0002015 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0003474 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0006895 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0007083 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0007240 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0007256 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0007350 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0008003 ORPHA:1177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0001761 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0002061 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0002650 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0003115 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0003700 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0007340 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0010794 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0100543 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0200101 ORPHA:1177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0000648 ORPHA:1177 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0000819 ORPHA:1177 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0001638 ORPHA:1177 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1177 Early-onset cerebellar ataxia with retained tendon reflexes HP:0005775 ORPHA:1177 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002073 ORPHA:1175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0000639 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0001152 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0001270 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0001310 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0001347 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0001761 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002070 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002075 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002080 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002312 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002317 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002359 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002464 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002503 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002650 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0003445 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0003447 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0006855 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0007141 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0007240 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0008944 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0200101 ORPHA:1175 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0002395 ORPHA:1175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0003487 ORPHA:1175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1175 X-linked progressive cerebellar ataxia HP:0009027 ORPHA:1175 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000023 ORPHA:1174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000028 ORPHA:1174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000325 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000337 ORPHA:1174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000668 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000691 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0001251 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0001288 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0001761 ORPHA:1174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0002167 ORPHA:1174 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0002213 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome HP:0008070 ORPHA:1174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002239 ORPHA:79076 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002014 ORPHA:79076 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0004326 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002243 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0000256 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001031 ORPHA:79076 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0010797 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001999 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002003 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0000316 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0000494 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0005280 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0000369 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0000160 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0000331 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001256 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0004390 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002027 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002573 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001903 ORPHA:79076 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002249 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0005505 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0003073 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002584 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002576 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002035 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0100759 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001627 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001290 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001270 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001631 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001643 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0004322 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0006608 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001028 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001249 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0001892 ORPHA:79076 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0005227 ORPHA:79076 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0030257 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002007 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0002705 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0011304 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79076 Juvenile polyposis of infancy HP:0010174 ORPHA:79076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0000750 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001249 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001251 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001263 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001324 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001337 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001878 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0001923 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0002076 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0002904 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0002913 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0003198 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0003201 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0003394 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0003738 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0009020 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0012638 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0020062 ORPHA:713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0000083 ORPHA:713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0000556 ORPHA:713 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0000618 ORPHA:713 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:716 Phenylketonuria HP:0030680 ORPHA:716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:716 Phenylketonuria HP:0003355 ORPHA:716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:716 Phenylketonuria HP:0010864 ORPHA:716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0007734 ORPHA:79078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0010286 ORPHA:79078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0010287 ORPHA:79078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0032300 ORPHA:79078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0011801 ORPHA:79078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000217 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000282 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000315 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000520 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000587 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000629 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0001097 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0001824 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0001945 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0002960 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0003261 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0003324 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0003493 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0003496 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0008049 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0012378 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0032230 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0100540 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0100614 ORPHA:79078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0000618 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0001873 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0001970 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0002716 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0005200 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0005994 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0007807 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0011481 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis HP:0100646 ORPHA:79078 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000232 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000316 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000445 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000494 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000674 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000677 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000709 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000716 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000767 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000768 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0001176 ORPHA:276630 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0001182 ORPHA:276630 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0001250 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0001252 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0001513 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0002007 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0030680 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0002650 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0002808 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0004322 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0007302 ORPHA:276630 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000194 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000218 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000262 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000303 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000316 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000322 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000324 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000348 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000431 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000470 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0000508 ORPHA:710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0001156 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0001385 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0003307 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0004209 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0004322 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0005048 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0006101 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0009773 ORPHA:710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0010669 ORPHA:710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0011304 ORPHA:710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:710 Pfeiffer syndrome HP:0012368 ORPHA:710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0003204 ORPHA:168486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001257 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0010536 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0032794 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002643 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0003236 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0025435 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0010851 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001321 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0006872 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002119 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001302 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0007162 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002171 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001274 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002878 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0012379 ORPHA:168486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002133 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0007190 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0100707 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001272 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0003657 ORPHA:168486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001250 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0002104 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0000252 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0000369 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0008772 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0001171 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0000431 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0000340 ORPHA:168486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2492 FATCO syndrome HP:0001171 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2492 FATCO syndrome HP:0001622 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2492 FATCO syndrome HP:0001626 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2492 FATCO syndrome HP:0002093 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2492 FATCO syndrome HP:0002991 ORPHA:2492 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2492 FATCO syndrome HP:0002992 ORPHA:2492 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2492 FATCO syndrome HP:0004050 ORPHA:2492 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2492 FATCO syndrome HP:0004322 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2492 FATCO syndrome HP:0006101 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2492 FATCO syndrome HP:0008368 ORPHA:2492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1160 Chylous ascites HP:0000501 ORPHA:1160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1160 Chylous ascites HP:0001004 ORPHA:1160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1160 Chylous ascites HP:0001482 ORPHA:1160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1160 Chylous ascites HP:0001541 ORPHA:1160 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1160 Chylous ascites HP:0001733 ORPHA:1160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1160 Chylous ascites HP:0002242 ORPHA:1160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1160 Chylous ascites HP:0002664 ORPHA:1160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0000252 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0000486 ORPHA:2491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0000821 ORPHA:2491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0001162 ORPHA:2491 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0001171 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0002983 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0003019 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0003762 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0004322 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0005792 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0006495 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0007477 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0008736 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0009811 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1168 Ataxia-oculomotor apraxia type 1 HP:0000707 ORPHA:1168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1168 Ataxia-oculomotor apraxia type 1 HP:0001251 ORPHA:1168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1168 Ataxia-oculomotor apraxia type 1 HP:0001288 ORPHA:1168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1168 Ataxia-oculomotor apraxia type 1 HP:0009830 ORPHA:1168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1168 Ataxia-oculomotor apraxia type 1 HP:0010747 ORPHA:1168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0002155 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0002240 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0003236 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0003292 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0003077 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0008993 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0009017 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000468 ORPHA:435660 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000855 ORPHA:435660 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0003635 ORPHA:435660 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0009125 ORPHA:435660 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000147 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000831 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000876 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0000956 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0001397 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0003712 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0012881 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0030685 ORPHA:435660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0008994 ORPHA:435660 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435660 LIPE-related familial partial lipodystrophy HP:0008997 ORPHA:435660 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2499 Metachondromatosis HP:0000944 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2499 Metachondromatosis HP:0002653 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2499 Metachondromatosis HP:0005701 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2499 Metachondromatosis HP:0005930 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2499 Metachondromatosis HP:0006824 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2499 Metachondromatosis HP:0010885 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2499 Metachondromatosis HP:0100777 ORPHA:2499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140966 Palmoplantar keratoderma, Nagashima type HP:0000975 ORPHA:140966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140966 Palmoplantar keratoderma, Nagashima type HP:0000982 ORPHA:140966 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000028 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000076 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000175 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000178 ORPHA:1166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000252 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000347 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000776 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001263 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001276 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001387 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001629 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001636 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0001679 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0002086 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0002093 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0002120 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0030680 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0003272 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0003422 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0004322 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0004414 ORPHA:1166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0005562 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0011333 ORPHA:1166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000411 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0008678 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0009804 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2497 Upper limb mesomelic dysplasia HP:0002986 ORPHA:2497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2497 Upper limb mesomelic dysplasia HP:0003022 ORPHA:2497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2497 Upper limb mesomelic dysplasia HP:0009465 ORPHA:2497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000347 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000494 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000506 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000508 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0001155 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0001156 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0005916 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0001387 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0001440 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0001760 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0001773 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0002652 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0002705 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0002983 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0002992 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0003019 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0003027 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0003063 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0004209 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0004322 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0005048 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0009465 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0010293 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0100240 ORPHA:2496 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0002823 ORPHA:2496 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000126 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000160 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000190 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000272 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000325 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000343 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000365 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000414 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000444 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000534 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0000545 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0001537 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0002815 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0002857 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0003028 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2496 Mesomelia-synostoses syndrome HP:0030680 ORPHA:2496 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0001231 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0001824 ORPHA:1164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0001879 ORPHA:1164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002092 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002093 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002097 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002099 ORPHA:1164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002105 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0025426 ORPHA:1164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002110 ORPHA:1164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002120 ORPHA:1164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0002715 ORPHA:1164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0011134 ORPHA:1164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1164 Allergic bronchopulmonary aspergillosis HP:0012735 ORPHA:1164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0010997 ORPHA:2495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0011133 ORPHA:2495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0100009 ORPHA:2495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000044 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000141 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000802 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000870 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0001250 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0002017 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0002315 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0002920 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0007359 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0008163 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0008214 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0040171 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0008240 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0008245 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0012658 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0012691 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0030341 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0030344 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0030521 ORPHA:2495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000238 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000602 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0001067 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0001085 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0001251 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0001269 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0001317 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0001513 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0002354 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0002355 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0002516 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0003484 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0004302 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0004408 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0006824 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0007340 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0007715 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0007924 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0008202 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0008237 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0010628 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0011442 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0011730 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0011750 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0012246 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0012285 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0012505 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0030532 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0030591 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0100010 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0100543 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0100661 ORPHA:2495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000020 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000360 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000520 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000618 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0000712 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0001262 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0001279 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0001342 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0002167 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0002512 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0003418 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0006520 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0008069 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0010534 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0010828 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0011752 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0030766 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0030878 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0045026 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2495 Meningioma HP:0100648 ORPHA:2495 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0004295 ORPHA:2494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0005246 ORPHA:2494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0001824 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0002013 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0002018 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0002027 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0003073 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0003075 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0004395 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0005202 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0012398 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0025406 ORPHA:2494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0002014 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0002020 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0002039 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0002239 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0004394 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0004396 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0004840 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0012126 ORPHA:2494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2494 Ménétrier disease HP:0001907 ORPHA:2494 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0012735 ORPHA:1163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0020153 ORPHA:1163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0001875 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0001880 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0001945 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002105 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002113 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002721 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0006528 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0025179 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0030878 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0032016 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0032177 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0100749 ORPHA:1163 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0000077 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0000246 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0000491 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0000505 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0000620 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0001626 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0001742 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002031 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002090 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002094 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002099 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002102 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002206 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002207 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002315 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0003212 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0004377 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0006510 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0006516 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0011355 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0012115 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0020103 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0031417 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0100326 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0200026 ORPHA:1163 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0000629 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0000772 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0000925 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0001250 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0001287 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0001297 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002110 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002170 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002202 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002383 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002693 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0002754 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0004302 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0005607 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0011314 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0011450 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1163 Aspergillosis HP:0011531 ORPHA:1163 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000160 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000174 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000201 ORPHA:1150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000233 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000293 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000346 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000347 ORPHA:1150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000364 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000366 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000368 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0000581 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001181 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001231 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001250 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001252 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001387 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001511 ORPHA:1150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0001561 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0002353 ORPHA:1150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0002714 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0003043 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0004322 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0010751 ORPHA:1150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome HP:0011344 ORPHA:1150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0000567 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0000708 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0000995 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0001072 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0001249 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0001250 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0001269 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0001305 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0001522 ORPHA:2481 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0002119 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0002170 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0002230 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0002269 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0002308 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0002353 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0002383 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0002435 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0002664 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0002861 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0003396 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0004936 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0005603 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0006824 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0007360 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0007440 ORPHA:2481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0007703 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2481 Neurocutaneous melanocytosis HP:0008678 ORPHA:2481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0000982 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0001155 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0001760 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0007404 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0011123 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0031190 ORPHA:87503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0000975 ORPHA:87503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0001218 ORPHA:87503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0001371 ORPHA:87503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0010783 ORPHA:87503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0025092 ORPHA:87503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0008064 ORPHA:87503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:87503 Mal de Meleda HP:0031452 ORPHA:87503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0000617 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001249 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001251 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001260 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001263 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001272 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0001288 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0002070 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0002078 ORPHA:284271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0000639 ORPHA:284271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0002015 ORPHA:284271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0002317 ORPHA:284271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0007979 ORPHA:284271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0008665 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000066 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000076 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000083 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000085 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000086 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000104 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000219 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000394 ORPHA:140952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000414 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000431 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000506 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000545 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000556 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000625 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000813 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0001250 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0001659 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0001671 ORPHA:140952 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0001770 ORPHA:140952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0002023 ORPHA:140952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0002984 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0003396 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0004209 ORPHA:140952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0004322 ORPHA:140952 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0004415 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0007754 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0011560 ORPHA:140952 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0003635 ORPHA:435651 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0009125 ORPHA:435651 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0000147 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0000831 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0000876 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0000956 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0001397 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0001733 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0002155 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0002240 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0003292 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0003077 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0008981 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0009017 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0003712 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0030685 ORPHA:435651 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:435651 CIDEC-related familial partial lipodystrophy HP:0000292 ORPHA:435651 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0000926 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0001386 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002515 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002655 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003301 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0004267 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0005195 ORPHA:1159 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0001225 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0001324 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0001376 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0001384 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002650 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002815 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002829 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003388 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003423 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0004322 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0004582 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0004603 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0006256 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0008422 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0009473 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0009811 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0011406 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0012385 ORPHA:1159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0000464 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002812 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002857 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002867 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002970 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003043 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003307 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003370 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0003371 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0004568 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0006247 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0006429 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0008833 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0010580 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0025477 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0040160 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0100864 ORPHA:1159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0002923 ORPHA:1159 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0025021 ORPHA:1159 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood HP:0032436 ORPHA:1159 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0000365 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0000567 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0001263 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0001511 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0002750 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0009738 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0009739 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0009778 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0010049 ORPHA:2489 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0000028 ORPHA:2489 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0000286 ORPHA:2489 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome HP:0000518 ORPHA:2489 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000047 ORPHA:2487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000069 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000368 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000400 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000470 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0000960 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0001622 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0001743 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0002093 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0030680 ORPHA:2487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0002992 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2487 Lower limb malformation-hypospadias syndrome HP:0100559 ORPHA:2487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002015 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0410151 ORPHA:411696 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0100633 ORPHA:411696 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002020 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002013 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0011968 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002027 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0030914 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0500093 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0004789 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0410328 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0001025 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0500095 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002099 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0003193 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0001047 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0410227 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0000737 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0008872 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0001508 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002018 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0410019 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0100749 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0031984 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0031985 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0031858 ORPHA:411696 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0010450 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0410152 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002032 ORPHA:411696 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000023 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000325 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000400 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000490 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000505 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000508 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000512 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000602 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000648 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000767 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0001166 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0001387 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0001776 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0004097 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0005879 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0010489 ORPHA:1154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0010751 ORPHA:1154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0000924 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0001004 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0001387 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0001508 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0002652 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0002653 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0002829 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0003202 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0006824 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0011001 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0011987 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0100774 ORPHA:2485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0100559 ORPHA:2485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0100560 ORPHA:2485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0000987 ORPHA:2485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0001369 ORPHA:2485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2485 Melorheostosis HP:0100784 ORPHA:2485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000270 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000316 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000336 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000347 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000520 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000774 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000944 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0003103 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0004322 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0006487 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0010306 ORPHA:2484 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000076 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000126 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000293 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000324 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000365 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000684 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000692 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000772 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0000894 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0001671 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0002007 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0002205 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0002650 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0002673 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0002827 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0002879 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0003172 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0004493 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0005692 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0009771 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0009882 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0010230 ORPHA:2484 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0001539 ORPHA:2484 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2484 Melnick-Needles syndrome HP:0002093 ORPHA:2484 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0000158 ORPHA:2483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0000221 ORPHA:2483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0000298 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0000639 ORPHA:2483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0000969 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0001945 ORPHA:2483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0012332 ORPHA:2483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0002716 ORPHA:2483 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0006824 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0010471 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0010628 ORPHA:2483 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0011123 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0100539 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2483 Melkersson-Rosenthal syndrome HP:0100825 ORPHA:2483 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0002202 ORPHA:50251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0000765 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0001824 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0002094 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0002098 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0002103 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0012735 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0025142 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0100749 ORPHA:50251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0002015 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0002088 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0002240 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0002716 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0002795 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0007011 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0011025 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:50251 Pleural mesothelioma HP:0031041 ORPHA:50251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002073 ORPHA:284289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0012379 ORPHA:284289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000508 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000608 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000641 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001152 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001260 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001272 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001310 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001347 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001348 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001350 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001761 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002070 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002078 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002197 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002380 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0003457 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0007240 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0008969 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0010545 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0011448 ORPHA:284289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000503 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000518 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000651 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0000666 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0001256 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia HP:0002080 ORPHA:284289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000028 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000174 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000303 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000316 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000322 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000336 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000347 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000368 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000400 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000411 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000430 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000448 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000486 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000508 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000664 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000689 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0000767 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0001249 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0030680 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0002650 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0002808 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0004322 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0004326 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0007598 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0010318 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0010807 ORPHA:2471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2471 McDonough syndrome HP:0012745 ORPHA:2471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0000528 ORPHA:2470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0000568 ORPHA:2470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0001249 ORPHA:2470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0000776 ORPHA:2470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0002088 ORPHA:2470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0002089 ORPHA:2470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0030680 ORPHA:2470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0000028 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0000076 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0000085 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0000089 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0000130 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0000369 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0001252 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0001508 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0001511 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0001734 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0025408 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0100800 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2470 Matthew-Wood syndrome HP:0100867 ORPHA:2470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0000639 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0000750 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0001260 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0001265 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0001270 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0002066 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0002070 ORPHA:284282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0002839 ORPHA:284282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000194 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000218 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000232 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000252 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000256 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000286 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000316 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000322 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000347 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000407 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000411 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000431 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000483 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000485 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000494 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000545 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000593 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000639 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000733 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000821 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000938 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001182 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001249 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001250 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001251 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001252 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0001263 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002007 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002167 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002353 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002650 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002808 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0002970 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0003124 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0004322 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0005692 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0007676 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0009891 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0010508 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0010978 ORPHA:2479 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0100693 ORPHA:2479 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0000218 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0000275 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0000347 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0000411 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0000431 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0000465 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0000470 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0001181 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0001387 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0002650 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0003049 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0003272 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0003422 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0004322 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0006501 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0007598 ORPHA:1147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0008368 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0009465 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0010557 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1147 Sheldon-Hall syndrome HP:0100830 ORPHA:1147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1146 Distal arthrogryposis type 1 HP:0000160 ORPHA:1146 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1146 Distal arthrogryposis type 1 HP:0001181 ORPHA:1146 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1146 Distal arthrogryposis type 1 HP:0001387 ORPHA:1146 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1146 Distal arthrogryposis type 1 HP:0001838 ORPHA:1146 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1146 Distal arthrogryposis type 1 HP:0001883 ORPHA:1146 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1146 Distal arthrogryposis type 1 HP:0003272 ORPHA:1146 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1146 Distal arthrogryposis type 1 HP:0009465 ORPHA:1146 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1146 Distal arthrogryposis type 1 HP:0010557 ORPHA:1146 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1146 Distal arthrogryposis type 1 HP:0100490 ORPHA:1146 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0000040 ORPHA:2477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0000053 ORPHA:2477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0000235 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0000256 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0000268 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0000269 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0000307 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0000431 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0000470 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0000490 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0001249 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0001631 ORPHA:2477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0001956 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0002007 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0002750 ORPHA:2477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2477 Megalencephaly HP:0002857 ORPHA:2477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0000175 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0001543 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0001629 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0002323 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0002414 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0004383 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0004397 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0006501 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0100335 ORPHA:2476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0001284 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002033 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002398 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0003202 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0003445 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0004303 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0006802 ORPHA:1145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0000218 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0000773 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0000887 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0001220 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002058 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002093 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002098 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002425 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002804 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002987 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0003273 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0003701 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0006380 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0006466 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0007269 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0008947 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0009071 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0020110 ORPHA:1145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0000028 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0001290 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0001308 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002009 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002460 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002518 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0002751 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0003324 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0007178 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0008180 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0030319 ORPHA:1145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy HP:0100543 ORPHA:1145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0000407 ORPHA:1144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0001166 ORPHA:1144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0001387 ORPHA:1144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0004322 ORPHA:1144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0004326 ORPHA:1144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0000174 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0000268 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0000286 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0000316 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0000368 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0000486 ORPHA:2475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0000545 ORPHA:2475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0000592 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0000772 ORPHA:2475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0000912 ORPHA:2475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0001631 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0002002 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0002086 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0002211 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0002750 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0003298 ORPHA:2475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0004209 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0005692 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2475 White forelock with malformations HP:0006101 ORPHA:2475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0001015 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0001528 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0006496 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0012721 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0025104 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0040064 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0100555 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0100585 ORPHA:75508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0000969 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0002753 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0002984 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0003022 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0004936 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0005792 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0010484 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0011804 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0100671 ORPHA:75508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0001155 ORPHA:75508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0001760 ORPHA:75508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0003401 ORPHA:75508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:75508 Angioosteohypotrophic syndrome HP:0009824 ORPHA:75508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001371 ORPHA:1143 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0003444 ORPHA:1143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001239 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001284 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002987 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0003202 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0003484 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0006380 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0006466 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0007340 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0008180 ORPHA:1143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0000316 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0000347 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001357 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001558 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001562 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001623 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001627 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0001838 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002058 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002098 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002380 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002650 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002747 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0002827 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0003273 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0007477 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0008110 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0008807 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0010781 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0011968 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0030799 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1143 Neurogenic arthrogryposis multiplex congenita HP:0410263 ORPHA:1143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0000003 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0000028 ORPHA:2473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0000126 ORPHA:2473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0000175 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0000218 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0000807 ORPHA:2473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0001156 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0001162 ORPHA:2473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0005916 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0001249 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0001263 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0001508 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0001629 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0001631 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0001636 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0001643 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0001830 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0002023 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0002251 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0004322 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0004383 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0004397 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0006101 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0008368 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0008678 ORPHA:2473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0012227 ORPHA:2473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0030010 ORPHA:2473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2473 McKusick-Kaufman syndrome HP:0100779 ORPHA:2473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1149 Kuskokwim syndrome HP:0000889 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1149 Kuskokwim syndrome HP:0000995 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1149 Kuskokwim syndrome HP:0001288 ORPHA:1149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1149 Kuskokwim syndrome HP:0001315 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1149 Kuskokwim syndrome HP:0001387 ORPHA:1149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1149 Kuskokwim syndrome HP:0001883 ORPHA:1149 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1149 Kuskokwim syndrome HP:0002650 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1149 Kuskokwim syndrome HP:0003312 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1149 Kuskokwim syndrome HP:0006498 ORPHA:1149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1149 Kuskokwim syndrome HP:0006501 ORPHA:1149 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0001347 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002061 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002314 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002355 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0007020 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0007340 ORPHA:100993 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0000012 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0000020 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002064 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002070 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002166 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002169 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0003394 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0003487 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0007210 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0001761 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0010831 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0030014 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0040307 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0100561 ORPHA:100993 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002607 ORPHA:100993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0007350 ORPHA:100993 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0001250 ORPHA:100993 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0002921 ORPHA:100993 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0003457 ORPHA:100993 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100993 Autosomal dominant spastic paraplegia type 12 HP:0012898 ORPHA:100993 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0001258 ORPHA:100994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0002839 ORPHA:100994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0000020 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0001347 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0002061 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0002064 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0002166 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0003487 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0007256 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0007340 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0007350 ORPHA:100994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0000012 ORPHA:100994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0001761 ORPHA:100994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0002650 ORPHA:100994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0000365 ORPHA:100994 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100994 Autosomal dominant spastic paraplegia type 13 HP:0000510 ORPHA:100994 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0001256 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0001347 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0001761 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0002064 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0003487 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0006895 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100995 Autosomal recessive spastic paraplegia type 14 HP:0007002 ORPHA:100995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002061 ORPHA:100991 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002395 ORPHA:100991 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0003487 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0007141 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0009129 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002342 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0001300 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0000365 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0000510 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002936 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0003477 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0008944 ORPHA:100991 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0100543 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0031958 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0011448 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0003401 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0001761 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0006986 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002650 ORPHA:100991 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002493 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0006886 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0007350 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0000012 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0002619 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0005679 ORPHA:100991 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0008969 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0007340 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100991 Autosomal dominant spastic paraplegia type 10 HP:0005340 ORPHA:100991 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002079 ORPHA:100996 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000009 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000639 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000580 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001249 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001257 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001258 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001260 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001288 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001317 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001324 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002061 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002071 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002395 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002500 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0003477 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0003484 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0003487 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0006986 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0007024 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0007108 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0008969 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0012045 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0030506 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0030892 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0100543 ORPHA:100996 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000118 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000496 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000708 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000726 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0000819 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001152 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001250 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001328 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0001761 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002145 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002378 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0002495 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100996 Autosomal recessive spastic paraplegia type 15 HP:0003693 ORPHA:100996 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002395 ORPHA:320411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0003487 ORPHA:320411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0001263 ORPHA:320411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002064 ORPHA:320411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002317 ORPHA:320411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0030051 ORPHA:320411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0001249 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0001258 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0001332 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002079 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002453 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0002500 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0003477 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:320411 Autosomal recessive spastic paraplegia type 56 HP:0100543 ORPHA:320411 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100997 X-linked spastic paraplegia type 16 HP:0000009 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100997 X-linked spastic paraplegia type 16 HP:0000572 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100997 X-linked spastic paraplegia type 16 HP:0000639 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100997 X-linked spastic paraplegia type 16 HP:0001256 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100997 X-linked spastic paraplegia type 16 HP:0001270 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100997 X-linked spastic paraplegia type 16 HP:0001844 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100997 X-linked spastic paraplegia type 16 HP:0002427 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100997 X-linked spastic paraplegia type 16 HP:0002445 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100997 X-linked spastic paraplegia type 16 HP:0012719 ORPHA:100997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0001347 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0001436 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0002064 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0003487 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0009027 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0009130 ORPHA:100998 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0001171 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0001763 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0002174 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0002936 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0003693 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0030237 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0030838 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0030839 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0031374 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100998 Autosomal dominant spastic paraplegia type 17 HP:0040131 ORPHA:100998 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002169 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0003394 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0007210 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0010831 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0012898 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0030014 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0040307 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0100561 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0000012 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0001347 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002061 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002314 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0003487 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0007020 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0007340 ORPHA:100999 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002070 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002166 ORPHA:100999 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002064 ORPHA:100999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002355 ORPHA:100999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0007350 ORPHA:100999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0001761 ORPHA:100999 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0001250 ORPHA:100999 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0002921 ORPHA:100999 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100999 Autosomal dominant spastic paraplegia type 19 HP:0003457 ORPHA:100999 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0000238 ORPHA:1136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0001263 ORPHA:1136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002475 ORPHA:1136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0000011 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0000639 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0000739 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0000961 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0001250 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0001251 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0001252 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0001257 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0001260 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0001612 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0001618 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002015 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002090 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002104 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002119 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002126 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002315 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002355 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002385 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002410 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002435 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002512 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002539 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0003396 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0003474 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0003484 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0004302 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0005348 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0006824 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0009130 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0010550 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0011441 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0011968 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0040010 ORPHA:1136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0000709 ORPHA:1136 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0000712 ORPHA:1136 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0001274 ORPHA:1136 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0001338 ORPHA:1136 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1136 Arnold-Chiari malformation type II HP:0002179 ORPHA:1136 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000023 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000044 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000175 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000218 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000316 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000453 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000568 ORPHA:1135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0000632 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0004408 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0009804 ORPHA:1135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0009924 ORPHA:1135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome HP:0011800 ORPHA:1135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0000750 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0001249 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0001188 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0001258 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0001274 ORPHA:2466 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0001288 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0001347 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0002119 ORPHA:2466 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0002381 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0004209 ORPHA:2466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0004322 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0004374 ORPHA:2466 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2466 MASA syndrome HP:0100490 ORPHA:2466 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0000090 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0000508 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0000510 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0000924 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0001392 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0040075 ORPHA:140976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0000002 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0000003 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0000365 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0000490 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0000938 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0000946 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0002652 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0002750 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0003170 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0006824 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0006897 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0010585 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140976 RHYNS syndrome HP:0011314 ORPHA:140976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0000316 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0000430 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0000568 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0000625 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0002006 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0002098 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0004122 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0004646 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0005273 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0008551 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0009935 ORPHA:1134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1134 Isolated arrhinia HP:0009927 ORPHA:1134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0000069 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0000160 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0000303 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0000319 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0000368 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0000582 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0000682 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0001156 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0001511 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0001744 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0002231 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0002240 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0002644 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0002650 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0004322 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0004326 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0004493 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0004828 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0005105 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0005978 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0006288 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0009912 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0010311 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0100578 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0100651 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1133 AREDYLD syndrome HP:0100840 ORPHA:1133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000160 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000218 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000268 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000272 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000280 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000316 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000400 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000445 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000767 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000883 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000938 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001166 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001252 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001833 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0003393 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0006086 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0008050 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0008078 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0009004 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0009929 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0010487 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0011822 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0011849 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0012157 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0012368 ORPHA:2463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000289 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000565 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000098 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001263 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001382 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001519 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0003100 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0003782 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0012771 ORPHA:2463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000664 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000777 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001007 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0001640 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0002162 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0002750 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0008439 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0009002 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0100579 ORPHA:2463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000028 ORPHA:1131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000218 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000252 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000286 ORPHA:1131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000324 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000325 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000347 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000368 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000405 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000407 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000411 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000426 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000465 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000494 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000508 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000767 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0001633 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0001642 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0004322 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0004414 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0009794 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0010669 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0100555 ORPHA:1131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0100840 ORPHA:1131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000268 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000278 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000316 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000347 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000358 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000369 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000494 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000506 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000520 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001166 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001249 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001252 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001763 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002705 ORPHA:2462 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000023 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000327 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000348 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000486 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000508 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000767 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000768 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001334 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001363 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001537 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001634 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001646 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001653 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002007 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002650 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0005692 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0100490 ORPHA:2462 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000028 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000252 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000405 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000411 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000463 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000545 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000774 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000921 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000938 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000944 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000974 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001387 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0001508 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002020 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002104 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002119 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002308 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0002857 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0003042 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0003312 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0006487 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0010318 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000160 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000175 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000176 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000193 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000252 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000278 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000298 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000347 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000358 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000369 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000508 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000581 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001166 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001249 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001252 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001263 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001328 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001387 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001460 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001508 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001510 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0002804 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0002974 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0003202 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0003510 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0003560 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0011968 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0012745 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000767 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000768 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001511 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0002650 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0002808 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0007018 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0100490 ORPHA:2461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000003 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000036 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000039 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000047 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000072 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000077 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000079 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000104 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000110 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000126 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0000238 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001274 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001321 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001331 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001629 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001651 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001696 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001840 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0001883 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0002021 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0002334 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0003312 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0004307 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0008678 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0010935 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2461 Marden-Walker syndrome HP:0030680 ORPHA:2461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002061 ORPHA:100984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002395 ORPHA:100984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0003487 ORPHA:100984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0009053 ORPHA:100984 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0001288 ORPHA:100984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002064 ORPHA:100984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0008944 ORPHA:100984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0011448 ORPHA:100984 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0000012 ORPHA:100984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0001270 ORPHA:100984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002495 ORPHA:100984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0009830 ORPHA:100984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0030051 ORPHA:100984 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0001260 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0001510 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002063 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002067 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0002359 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0006895 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100984 Autosomal dominant spastic paraplegia type 3 HP:0100963 ORPHA:100984 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0001249 ORPHA:530983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0001263 ORPHA:530983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0001328 ORPHA:530983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0001999 ORPHA:530983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0031936 ORPHA:530983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000486 ORPHA:530983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000750 ORPHA:530983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0001252 ORPHA:530983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0001256 ORPHA:530983 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000252 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000276 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000286 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000331 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000347 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000455 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000648 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000729 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000733 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000752 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0001250 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0001251 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0001530 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0002493 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0002650 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0002949 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0011968 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0012433 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0012471 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0025160 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0040195 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000646 ORPHA:530983 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0001385 ORPHA:530983 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0002942 ORPHA:530983 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:530983 Lamb-Shaffer syndrome HP:0100704 ORPHA:530983 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001072 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002829 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0003326 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0003493 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0011024 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0030880 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0031359 ORPHA:90291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0000077 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0000160 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001009 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001232 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001324 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001386 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002031 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002206 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0003236 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0005590 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0006121 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0006261 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0006530 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0007400 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0011838 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0012531 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0025131 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0025520 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0030859 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0030873 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0031293 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0031917 ORPHA:90291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0000083 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0000093 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0000099 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0000966 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0000989 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001279 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001369 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001371 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001581 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001596 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001701 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001708 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0001919 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002015 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002020 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002092 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002094 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002244 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002250 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002577 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002578 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002584 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002604 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002607 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002617 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0002754 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0009771 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0011799 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0012185 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0012592 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0012622 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0012819 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0031329 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0100580 ORPHA:90291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90291 Systemic sclerosis HP:0100758 ORPHA:90291 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0001347 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002061 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002314 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002355 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0003487 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0007020 ORPHA:100989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0000012 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0000020 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002064 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002070 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002166 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002406 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0003394 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0007340 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0001761 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0009049 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0100561 ORPHA:100989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002169 ORPHA:100989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0006986 ORPHA:100989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0002921 ORPHA:100989 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0003457 ORPHA:100989 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100989 Autosomal dominant spastic paraplegia type 8 HP:0012898 ORPHA:100989 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000505 ORPHA:67036 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000648 ORPHA:67036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0007663 ORPHA:67036 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000518 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000603 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000639 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001251 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001272 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001284 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0002174 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0002317 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0002522 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0003394 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0003401 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0003474 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0010924 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0012531 ORPHA:67036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000552 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000618 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0000642 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001172 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001315 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001377 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0001761 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0002322 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0002403 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0003438 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0006248 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0007076 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0007787 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0007795 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0007976 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0009468 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0010522 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0010923 ORPHA:67036 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0000012 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001257 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001348 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0002061 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0003487 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0004302 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0006938 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0007340 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0008969 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0011448 ORPHA:100985 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001260 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001761 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0002839 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0003693 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0007350 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0100543 ORPHA:100985 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001249 ORPHA:100985 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001250 ORPHA:100985 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100985 Autosomal dominant spastic paraplegia type 4 HP:0001251 ORPHA:100985 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0001258 ORPHA:100986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002061 ORPHA:100986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002495 ORPHA:100986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0003487 ORPHA:100986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0007340 ORPHA:100986 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0000079 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0001317 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0001761 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002500 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0007210 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0011448 ORPHA:100986 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002070 ORPHA:100986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002078 ORPHA:100986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0006827 ORPHA:100986 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0000407 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0000518 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0000639 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0001260 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0001271 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002015 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0002650 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0003484 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0006986 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100986 Autosomal recessive spastic paraplegia type 5A HP:0009129 ORPHA:100986 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0001258 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0001288 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0002061 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0002395 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0002495 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0003487 ORPHA:100988 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0001761 ORPHA:100988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0002069 ORPHA:100988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0003202 ORPHA:100988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0008800 ORPHA:100988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0010505 ORPHA:100988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0000020 ORPHA:100988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100988 Autosomal dominant spastic paraplegia type 6 HP:0002174 ORPHA:100988 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0000262 ORPHA:93317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0000772 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0000774 ORPHA:93317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0000782 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0000926 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0001274 ORPHA:93317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0001290 ORPHA:93317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0001302 ORPHA:93317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0001321 ORPHA:93317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0001678 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0002093 ORPHA:93317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0002657 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0002750 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0003085 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0003498 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0004279 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0004991 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0005616 ORPHA:93317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0005871 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0006543 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0008786 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0010049 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0010579 ORPHA:93317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0011675 ORPHA:93317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type HP:0012819 ORPHA:93317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000218 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000293 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000347 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000460 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000468 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000842 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000855 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000963 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0001000 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0003635 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0005781 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0100578 ORPHA:2457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000270 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000678 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000685 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000831 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0001952 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000894 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0000956 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0001090 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0001596 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0001804 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0001870 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0002155 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0003124 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0003809 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0008070 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0008897 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0008993 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0009003 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0009839 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0011334 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0030781 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2457 Mandibuloacral dysplasia HP:0030809 ORPHA:2457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2456 Familial supernumerary nipples HP:0000119 ORPHA:2456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2456 Familial supernumerary nipples HP:0002558 ORPHA:2456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002812 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003025 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003300 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003468 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003908 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0004322 ORPHA:93315 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000768 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0001376 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002650 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002857 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002970 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003026 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0003521 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0006385 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0009763 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0009824 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0011849 ORPHA:93315 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000218 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000307 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000324 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000358 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000384 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000385 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000411 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000505 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000520 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000545 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000926 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002938 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002945 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002948 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002982 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0004586 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0004625 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0008417 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0008422 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0008577 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0009896 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0012368 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0100559 ORPHA:93315 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000164 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000470 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0000486 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0001891 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002659 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002866 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0004349 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0005743 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0007906 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0008440 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0009882 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0030084 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0031427 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0032208 ORPHA:93315 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1123 Caudal appendage-deafness syndrome HP:0000028 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1123 Caudal appendage-deafness syndrome HP:0001249 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1123 Caudal appendage-deafness syndrome HP:0001999 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1123 Caudal appendage-deafness syndrome HP:0002825 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1123 Caudal appendage-deafness syndrome HP:0004322 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1123 Caudal appendage-deafness syndrome HP:0008610 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1123 Caudal appendage-deafness syndrome HP:0011297 ORPHA:1123 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000925 ORPHA:93316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000944 ORPHA:93316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0100255 ORPHA:93316 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000926 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0001385 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002650 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002812 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002815 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002857 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002867 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003375 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003510 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003521 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0010574 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0100866 ORPHA:93316 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000185 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000347 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000402 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0000545 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0001561 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002020 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002033 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0002751 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003019 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003026 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0003796 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0008833 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0011470 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0011471 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type HP:0100864 ORPHA:93316 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1122 Ulnar hypoplasia-split foot syndrome HP:0001171 ORPHA:1122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1122 Ulnar hypoplasia-split foot syndrome HP:0001839 ORPHA:1122 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1122 Ulnar hypoplasia-split foot syndrome HP:0003022 ORPHA:1122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1122 Ulnar hypoplasia-split foot syndrome HP:0006501 ORPHA:1122 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0000772 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0000776 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001172 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001177 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001199 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001250 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001522 ORPHA:1120 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001631 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001643 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001646 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001647 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001680 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0001772 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0002093 ORPHA:1120 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0002101 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0002119 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0002414 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0003422 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0005180 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0006695 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0006703 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0007598 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0009623 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0009778 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0009882 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0010772 ORPHA:1120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome HP:0011039 ORPHA:1120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0000992 ORPHA:90283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0025474 ORPHA:90283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0031191 ORPHA:90283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0003493 ORPHA:90283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0025528 ORPHA:90283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0030057 ORPHA:90283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0030351 ORPHA:90283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0032235 ORPHA:90283 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0020151 ORPHA:90283 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0007483 ORPHA:90283 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0040189 ORPHA:90283 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:90283 Lupus erythematosus tumidus HP:0100699 ORPHA:90283 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0000270 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0000347 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0000494 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0000586 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0001166 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0001249 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0001263 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0002007 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0003196 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0008947 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0010539 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0010565 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0011800 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0011968 ORPHA:1129 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0002104 ORPHA:1129 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0000925 ORPHA:93314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0000926 ORPHA:93314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001510 ORPHA:93314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002663 ORPHA:93314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003521 ORPHA:93314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001156 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001248 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001288 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001498 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0001831 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002515 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002650 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002812 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002867 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002869 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002970 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003016 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003088 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003170 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003177 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003336 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003510 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0005819 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0009882 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0010743 ORPHA:93314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0000768 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0000914 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002355 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002808 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002938 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002942 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0002986 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003059 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003121 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003180 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003185 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003311 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003417 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0003907 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0004558 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0008422 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0010228 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0030289 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0030320 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0100864 ORPHA:93314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0001385 ORPHA:93311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0008828 ORPHA:93311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0001288 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0001384 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0002857 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0002970 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003088 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003502 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003839 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0010631 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0030839 ORPHA:93311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0001387 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0002355 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003170 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003184 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003365 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0004268 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0005743 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0005877 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0008419 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0008800 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0030840 ORPHA:93311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93311 Multiple epiphyseal dysplasia type 5 HP:0003418 ORPHA:93311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0001072 ORPHA:90289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0002829 ORPHA:90289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0011355 ORPHA:90289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0030053 ORPHA:90289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0031359 ORPHA:90289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000164 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000177 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000324 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000504 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000554 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000689 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000953 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0001053 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0001369 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0001371 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0002020 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0002076 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0002232 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0002315 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0002960 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0003198 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0004426 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0006336 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0009019 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0010783 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0011331 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0011821 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0025474 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0100537 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0100560 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0100876 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0100899 ORPHA:90289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000077 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000366 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000490 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000520 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000707 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0000872 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0001045 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0001250 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0001297 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0001626 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0002086 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0002384 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0002633 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0003202 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0003330 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0008066 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0011138 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0011675 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0030878 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0030880 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0100633 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:90289 Localized scleroderma HP:0200041 ORPHA:90289 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0000713 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0000718 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0000722 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0000729 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0000750 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0000752 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0001249 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0001328 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0001511 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0001609 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0002312 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0004322 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0009904 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0012471 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0100023 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0100710 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0000256 ORPHA:100973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0004209 ORPHA:100973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0012172 ORPHA:100973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0000286 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100973 FRAXE intellectual disability HP:0000426 ORPHA:100973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67041 Hyaluronidase deficiency HP:0003170 ORPHA:67041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67041 Hyaluronidase deficiency HP:0004322 ORPHA:67041 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0000962 ORPHA:90280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0000965 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0000988 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0002923 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0010702 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0011123 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0025131 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0025300 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0030350 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0030880 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0030899 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0200042 ORPHA:90280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0002099 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0002725 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0003493 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0003613 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0007417 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:90280 Chilblain lupus HP:0012325 ORPHA:90280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0000481 ORPHA:67043 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0000613 ORPHA:67043 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0007856 ORPHA:67043 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0011495 ORPHA:67043 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0200026 ORPHA:67043 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0000518 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0001089 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0004329 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0012122 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0012155 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0100532 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0100583 ORPHA:67043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0000593 ORPHA:67043 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0012040 ORPHA:67043 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67043 Amoebic keratitis HP:0012804 ORPHA:67043 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0030534 ORPHA:67042 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0000533 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0000572 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0000608 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0000662 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0001141 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0007791 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0011506 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0011510 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0031530 ORPHA:67042 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0000552 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0000613 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0000642 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0001089 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0001099 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0004328 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0007401 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0012628 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0012805 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0500087 ORPHA:67042 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0007906 ORPHA:67042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67042 Late-onset retinal degeneration HP:0100014 ORPHA:67042 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000248 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000260 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000286 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000316 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000343 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000463 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000470 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000518 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000637 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000774 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000926 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0001238 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0001263 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002673 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002693 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002714 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002942 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0003071 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0003180 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0003196 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0003300 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0003366 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0005280 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0006454 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0008783 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0011001 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0011326 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0011849 ORPHA:163649 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000347 ORPHA:163649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002007 ORPHA:163649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0007894 ORPHA:163649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0011329 ORPHA:163649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0100558 ORPHA:163649 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000175 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000218 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000541 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000545 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000568 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0002879 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0009811 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0010471 ORPHA:163649 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0100767 ORPHA:439167 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0001511 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0001518 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0003508 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0006266 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0011403 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0012418 ORPHA:439167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0000717 ORPHA:439167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0000729 ORPHA:439167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0002725 ORPHA:439167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0003613 ORPHA:439167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0012759 ORPHA:439167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0000855 ORPHA:439167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0001627 ORPHA:439167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0002088 ORPHA:439167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0005268 ORPHA:439167 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:439167 Placental insufficiency HP:0100021 ORPHA:439167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000455 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000670 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000750 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000966 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000972 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0001249 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0001954 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0002205 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0005338 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0006297 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0012434 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0012471 ORPHA:363523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0005484 ORPHA:363523 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0012115 ORPHA:363523 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0040196 ORPHA:363523 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0003160 ORPHA:363523 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0000824 ORPHA:67045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0001249 ORPHA:67045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0004322 ORPHA:67045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0030353 ORPHA:67045 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0000570 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0000657 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0002079 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0002750 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0007979 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0010627 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0011342 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0011755 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0012447 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67045 X-linked intellectual disability with isolated growth hormone deficiency HP:0040010 ORPHA:67045 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0000028 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0001931 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0004447 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0010972 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0011273 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0012143 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0012145 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0040185 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia HP:0045040 ORPHA:67044 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0000505 ORPHA:67047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0000639 ORPHA:67047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0001249 ORPHA:67047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0001251 ORPHA:67047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0001260 ORPHA:67047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0001266 ORPHA:67047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0001288 ORPHA:67047 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0002313 ORPHA:67047 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67047 3-methylglutaconic aciduria type 3 HP:0003535 ORPHA:67047 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0005318 ORPHA:140989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0001269 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0001297 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0002017 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0002315 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0002326 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0002381 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0003470 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0007052 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0007236 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0012229 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0025456 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0100543 ORPHA:140989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0000622 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0000651 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0001250 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0001251 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0001260 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0001945 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0002170 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0002273 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0002385 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0007663 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0010534 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0030588 ORPHA:140989 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0000538 ORPHA:140989 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0001300 ORPHA:140989 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0002321 ORPHA:140989 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0025142 ORPHA:140989 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:140989 Primary angiitis of the central nervous system HP:0100576 ORPHA:140989 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100974 FRAXF syndrome HP:0003564 ORPHA:100974 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100974 FRAXF syndrome HP:0012758 ORPHA:100974 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100974 FRAXF syndrome HP:0000118 ORPHA:100974 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0000252 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0000750 ORPHA:67046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001250 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001259 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001263 ORPHA:67046 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001285 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001332 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001508 ORPHA:67046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0001943 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0002073 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0002134 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0002240 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0003535 ORPHA:67046 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000486 ORPHA:363528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001249 ORPHA:363528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001508 ORPHA:363528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000252 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000286 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000582 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000750 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001257 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001263 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0004322 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0005280 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0008947 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0011220 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012443 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000028 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000047 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000054 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000154 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000218 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000276 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000316 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000324 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000340 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000347 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000348 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000365 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000369 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000400 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000403 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000418 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000448 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000470 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000506 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000664 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000718 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000752 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000824 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000966 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001250 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001357 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001376 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001511 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001561 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001631 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001643 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001762 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001771 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001838 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0002020 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0002553 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0003196 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0007162 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012408 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012444 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012448 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012471 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0030353 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0031123 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0100710 ORPHA:363528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000164 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000776 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000821 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001274 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0001288 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0002079 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0002172 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0005879 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0009473 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0009830 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0011968 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0012450 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0100702 ORPHA:363528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0001072 ORPHA:100976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0008064 ORPHA:100976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0025092 ORPHA:100976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0040189 ORPHA:100976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0000656 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0001019 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0001036 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0007460 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0007479 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0010829 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0012472 ORPHA:100976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0000966 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0000972 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0008070 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0001596 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0002828 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0008404 ORPHA:100976 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100976 Bathing suit ichthyosis HP:0025524 ORPHA:100976 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0000252 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0000365 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0000518 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001249 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001250 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001252 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001257 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001263 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001410 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001508 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001638 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001873 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0001943 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0002195 ORPHA:67048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0003128 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0003535 ORPHA:67048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0007730 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000028 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000154 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000174 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000179 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000215 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000306 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000343 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000431 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000463 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000470 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000475 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000574 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000581 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000582 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000767 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0001156 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0001608 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0001832 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0002162 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0002164 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0002212 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0002750 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0002967 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0003026 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0004322 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0004634 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0005069 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0005280 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0005622 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0006394 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0007665 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0008496 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0008551 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0008839 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0009103 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0009937 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0010306 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0011829 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0100625 ORPHA:163654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0200063 ORPHA:247798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0005227 ORPHA:247798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0030255 ORPHA:247798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0040276 ORPHA:247798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0100896 ORPHA:247798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0007649 ORPHA:247798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis HP:0100245 ORPHA:247798 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1114 Aplasia cutis congenita HP:0001362 ORPHA:1114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1114 Aplasia cutis congenita HP:0004471 ORPHA:1114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1114 Aplasia cutis congenita HP:0007383 ORPHA:1114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1114 Aplasia cutis congenita HP:0010301 ORPHA:1114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1114 Aplasia cutis congenita HP:0200042 ORPHA:1114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1114 Aplasia cutis congenita HP:0001770 ORPHA:1114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1114 Aplasia cutis congenita HP:0003010 ORPHA:1114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1114 Aplasia cutis congenita HP:0004348 ORPHA:1114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1114 Aplasia cutis congenita HP:0006101 ORPHA:1114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1114 Aplasia cutis congenita HP:0010628 ORPHA:1114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002652 ORPHA:93307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002654 ORPHA:93307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002829 ORPHA:93307 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000347 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001156 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001371 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001376 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001387 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001762 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001776 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002515 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002812 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002857 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002987 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003071 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003088 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003365 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003498 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0005616 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008807 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008848 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0009824 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0030289 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0031174 ORPHA:93307 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000175 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000218 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000363 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000369 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001385 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001440 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001769 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0001831 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002650 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002947 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0002986 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003016 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0003031 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0004002 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0004037 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0005922 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0006429 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008434 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008826 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008829 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0008905 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0009381 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0009471 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0009487 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0009778 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0010049 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0010743 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0025264 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0031006 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0031878 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0032649 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0040072 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0000377 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93307 Multiple epiphyseal dysplasia type 4 HP:0100864 ORPHA:93307 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2444 Congenital pulmonary airway malformation HP:0001561 ORPHA:2444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2444 Congenital pulmonary airway malformation HP:0001622 ORPHA:2444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2444 Congenital pulmonary airway malformation HP:0002086 ORPHA:2444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2444 Congenital pulmonary airway malformation HP:0002093 ORPHA:2444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2444 Congenital pulmonary airway malformation HP:0002103 ORPHA:2444 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0000252 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0005916 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001770 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001798 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001800 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001802 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001804 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001830 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0001839 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0004322 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0009773 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0009882 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0010185 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0100490 ORPHA:1113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93304 Autosomal dominant brachyolmia HP:0000926 ORPHA:93304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93304 Autosomal dominant brachyolmia HP:0000944 ORPHA:93304 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93304 Autosomal dominant brachyolmia HP:0002751 ORPHA:93304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93304 Autosomal dominant brachyolmia HP:0004322 ORPHA:93304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93304 Autosomal dominant brachyolmia HP:0004570 ORPHA:93304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93304 Autosomal dominant brachyolmia HP:0010306 ORPHA:93304 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001315 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002460 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003390 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007210 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007327 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0008944 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0009053 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0100290 ORPHA:466768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001249 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001288 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001328 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001337 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002355 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002493 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002495 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003130 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003474 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003484 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003487 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003693 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0004302 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007002 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007230 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0008948 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0009046 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0009129 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0009473 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0010830 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0012378 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0012785 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0040131 ORPHA:466768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000365 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000467 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001047 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001263 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001276 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001620 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001761 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002167 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002380 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002411 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002500 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002540 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003324 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003325 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003394 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003701 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0003797 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0005879 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0006827 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0006970 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007269 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007641 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0007703 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0008959 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0008994 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0008997 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0009027 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0012444 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0012447 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0012473 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0030237 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0031947 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0030051 ORPHA:466768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000020 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000252 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000518 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001250 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001272 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001290 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001999 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0002747 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0006597 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0000055 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0005916 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001555 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001562 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001643 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001770 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001798 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0001839 ORPHA:1112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0002089 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0002644 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0002937 ORPHA:1112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0003042 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0004320 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0006101 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0008678 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0009767 ORPHA:1112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0010173 ORPHA:1112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0012621 ORPHA:1112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0001945 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002961 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0004313 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0004315 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0012156 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0012191 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0025289 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0030812 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0031693 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0100727 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0100827 ORPHA:2442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0001399 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0001410 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0001433 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0001744 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0001876 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002037 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002155 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002205 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002716 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002720 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002850 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002910 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0003256 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0003261 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0003281 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0003496 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0005403 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0005404 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0005528 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0010976 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0011900 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0031408 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0040218 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0040219 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0100828 ORPHA:2442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0000123 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0001915 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002583 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002605 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002633 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002955 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0002960 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0004787 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0012819 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0030080 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2442 X-linked lymphoproliferative disease HP:0030250 ORPHA:2442 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000160 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000252 ORPHA:1110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000303 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000324 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000325 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000337 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000368 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000400 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000426 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000444 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000494 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000670 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000708 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0001249 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0001252 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0001511 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0002623 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0002714 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0002970 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0003272 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0010669 ORPHA:1110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0012303 ORPHA:1110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0100026 ORPHA:1110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2440 Isolated split hand-split foot malformation HP:0000407 ORPHA:2440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2440 Isolated split hand-split foot malformation HP:0000526 ORPHA:2440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2440 Isolated split hand-split foot malformation HP:0001171 ORPHA:2440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2440 Isolated split hand-split foot malformation HP:0004050 ORPHA:2440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2440 Isolated split hand-split foot malformation HP:0006101 ORPHA:2440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2440 Isolated split hand-split foot malformation HP:0012165 ORPHA:2440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0001288 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0001385 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0003026 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0003365 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0030839 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0030973 ORPHA:93308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0001376 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0001387 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002515 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002663 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002758 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0003170 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0003498 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0006094 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0030840 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0045086 ORPHA:93308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002812 ORPHA:93308 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002857 ORPHA:93308 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0002970 ORPHA:93308 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0005743 ORPHA:93308 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93308 Multiple epiphyseal dysplasia type 1 HP:0001156 ORPHA:93308 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:93302 Brachyolmia, Maroteaux type HP:0000767 ORPHA:93302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93302 Brachyolmia, Maroteaux type HP:0000926 ORPHA:93302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93302 Brachyolmia, Maroteaux type HP:0002650 ORPHA:93302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93302 Brachyolmia, Maroteaux type HP:0003312 ORPHA:93302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93302 Brachyolmia, Maroteaux type HP:0004322 ORPHA:93302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93302 Brachyolmia, Maroteaux type HP:0006610 ORPHA:93302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93302 Brachyolmia, Maroteaux type HP:0010306 ORPHA:93302 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93302 Brachyolmia, Maroteaux type HP:0010653 ORPHA:93302 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1118 Fibular aplasia-ectrodactyly syndrome HP:0001171 ORPHA:1118 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1118 Fibular aplasia-ectrodactyly syndrome HP:0001622 ORPHA:1118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1118 Fibular aplasia-ectrodactyly syndrome HP:0040071 ORPHA:1118 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1118 Fibular aplasia-ectrodactyly syndrome HP:0006492 ORPHA:1118 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0000924 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0001057 ORPHA:1117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0001287 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0001362 ORPHA:1117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0001892 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0001928 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0006934 ORPHA:1117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0007703 ORPHA:1117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0011003 ORPHA:1117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0012639 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1117 Aplasia cutis-myopia syndrome HP:0200042 ORPHA:1117 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0000545 ORPHA:1116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0000567 ORPHA:1116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0001004 ORPHA:1116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0001362 ORPHA:1116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0001888 ORPHA:1116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0001892 ORPHA:1116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0001928 ORPHA:1116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0002024 ORPHA:1116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0003075 ORPHA:1116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0004209 ORPHA:1116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0004313 ORPHA:1116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0007598 ORPHA:1116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0011362 ORPHA:1116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000085 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000126 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000193 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000218 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000238 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000256 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000262 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000268 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000272 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000278 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000280 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000303 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000308 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000316 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000319 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000347 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000356 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000358 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000368 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000369 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000410 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000431 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000486 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000494 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000506 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000678 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000766 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0006610 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0012210 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0004209 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001166 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001176 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001250 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001270 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001305 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001319 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0002315 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001274 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001363 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001382 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001511 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001519 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001548 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001623 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001653 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001845 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001999 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0002092 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0030680 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0002650 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0002667 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0002705 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0008519 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0003396 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0005180 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0006143 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0000676 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0001347 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0007642 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0008714 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0009471 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0009540 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0010653 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0012444 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0012758 ORPHA:314585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314585 15q overgrowth syndrome HP:0030680 ORPHA:314585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0000618 ORPHA:77299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0007633 ORPHA:77299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0000252 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0001257 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0002013 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0002376 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0002506 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0006956 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0007162 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0007366 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0007371 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0030215 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0031165 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0002123 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0002197 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0006855 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0007361 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0011174 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0031358 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0100703 ORPHA:77299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000028 ORPHA:77298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000047 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000238 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000365 ORPHA:77298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000528 ORPHA:77298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000568 ORPHA:77298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000572 ORPHA:77298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000612 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000647 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000878 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001249 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001263 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001274 ORPHA:77298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001360 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001510 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001629 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0001643 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0002032 ORPHA:77298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0002575 ORPHA:77298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0002937 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0003468 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0008736 ORPHA:77298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0000093 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0000969 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0001061 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0001371 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0001508 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0001744 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0001824 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0001945 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0001974 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0002024 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0002113 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0002240 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0002315 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0002653 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0002659 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0002829 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0002907 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0003025 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0003326 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0004326 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0004810 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0004840 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0005561 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0002754 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0011001 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0011123 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0012647 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0012735 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0100769 ORPHA:77297 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0100820 ORPHA:77297 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0200034 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77297 Majeed syndrome HP:0200039 ORPHA:77297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0004438 ORPHA:77296 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000707 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000708 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000818 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0001513 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002315 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0032245 ORPHA:77296 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000819 ORPHA:77296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0001007 ORPHA:77296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002076 ORPHA:77296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002120 ORPHA:77296 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000716 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000725 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000820 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000821 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000822 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0000939 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0001061 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0001250 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0001348 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002149 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002310 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002321 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002345 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002354 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0002758 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0003124 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0012444 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0031589 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77296 Morgagni-Stewart-Morel syndrome HP:0100543 ORPHA:77296 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000823 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000938 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000939 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001410 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001744 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001873 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001971 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002155 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002240 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002750 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0003077 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0003119 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0003141 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0003233 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0004322 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0006520 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0006530 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0010729 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0012415 ORPHA:77293 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000707 ORPHA:77293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002194 ORPHA:77293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0004887 ORPHA:77293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0009830 ORPHA:77293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0030353 ORPHA:77293 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000639 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000708 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0000716 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001081 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001249 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001251 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001317 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001328 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001394 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001399 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001654 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001677 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001892 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0001973 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002121 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002186 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002725 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002756 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0002896 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0004836 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0007018 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency HP:0007302 ORPHA:77293 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0002133 ORPHA:363558 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0025373 ORPHA:363558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0032867 ORPHA:363558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0032894 ORPHA:363558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0001945 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0002384 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0002457 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0002922 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0002960 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0004302 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0007183 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0007334 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0010845 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0011154 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0011468 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0012229 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0020217 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0030782 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0033716 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0033717 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0100543 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0410263 ORPHA:363558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0000708 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0001289 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0002283 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0002315 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0002383 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0010841 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0010850 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0011198 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0012378 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0012696 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0030915 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0031358 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0032794 ORPHA:363558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0012751 ORPHA:363558 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363558 New-onset refractory status epilepticus HP:0031475 ORPHA:363558 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0003251 ORPHA:529970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0012869 ORPHA:529970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0000798 ORPHA:529970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0012207 ORPHA:529970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0012867 ORPHA:529970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0002916 ORPHA:529970 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:529970 Male infertility due to acephalic spermatozoa HP:0008226 ORPHA:529970 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0000175 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0000316 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0000368 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0000453 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0000528 ORPHA:1104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0000581 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0000612 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0000625 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0002006 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0002414 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0002744 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0003422 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0004097 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0005105 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0009906 ORPHA:1104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1104 Anophthalmia plus syndrome HP:0100335 ORPHA:1104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0000252 ORPHA:2435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0000772 ORPHA:2435 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0000995 ORPHA:2435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0001053 ORPHA:2435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0001249 ORPHA:2435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0004322 ORPHA:2435 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0007400 ORPHA:2435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0012733 ORPHA:2435 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0000235 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0000337 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0000482 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0000568 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0001520 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0002093 ORPHA:2432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0002205 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0002240 ORPHA:2432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0002683 ORPHA:2432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0007957 ORPHA:2432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome HP:0009099 ORPHA:2432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000023 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000028 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000268 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000303 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000327 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000343 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000485 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000526 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000528 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000545 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000587 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000598 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000767 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001131 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001357 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001537 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001653 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001704 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0001762 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0002650 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0002705 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0004327 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0005180 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0009004 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0009465 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0030680 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0100490 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0200007 ORPHA:1101 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2430 Congenital macroglossia HP:0000158 ORPHA:2430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2430 Congenital macroglossia HP:0000821 ORPHA:2430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2430 Congenital macroglossia HP:0001067 ORPHA:2430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2430 Congenital macroglossia HP:0500030 ORPHA:2430 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0001300 ORPHA:411602 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000651 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002015 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002304 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002322 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002359 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002548 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0004409 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0005340 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0012450 ORPHA:411602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000338 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000713 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000716 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000741 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000744 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0001268 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0001332 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0001824 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002063 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002067 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002120 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002171 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002172 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002360 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002362 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0002367 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0003394 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0004926 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0031435 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0100315 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0100660 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0100710 ORPHA:411602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0000726 ORPHA:411602 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411602 Hereditary late-onset Parkinson disease HP:0100753 ORPHA:411602 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0000010 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0000047 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0000074 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0000076 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0000130 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0000486 ORPHA:2438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0000795 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0000813 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0000960 ORPHA:2438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0001162 ORPHA:2438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0001629 ORPHA:2438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0004209 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0005048 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0005268 ORPHA:2438 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0006110 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0007477 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0008080 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0008551 ORPHA:2438 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0009623 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0009778 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0009882 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0010034 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0010105 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0010109 ORPHA:2438 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2438 Hand-foot-genital syndrome HP:0011937 ORPHA:2438 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000028 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000085 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000175 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000204 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000218 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000233 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000238 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000327 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000343 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000347 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000368 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000534 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000568 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000581 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0000648 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001162 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0005916 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001172 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001180 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001215 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001508 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001522 ORPHA:1106 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001572 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001762 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001770 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001830 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001849 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0001852 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0002007 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0002139 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0002342 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0002814 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0002817 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0002827 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0002982 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0003026 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0003038 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0003042 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0003312 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0004209 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0004322 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0005048 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0005280 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0005293 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0005692 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0005736 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0006101 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0006487 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0007598 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0008368 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0009748 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0010650 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0010864 ORPHA:1106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0011220 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0011304 ORPHA:1106 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0011478 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1106 Microphthalmia with limb anomalies HP:0100240 ORPHA:1106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0000079 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0000126 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0001839 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0002414 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0012300 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0025193 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0100257 ORPHA:2437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0000218 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0000238 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0000340 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0000347 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0000368 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0000474 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0000582 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0000954 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0001233 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0001651 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0002089 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0002475 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0002557 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0002575 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0002944 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0003298 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0006097 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0006610 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0008589 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0008593 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0008676 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0009112 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0010539 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0010704 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0001234 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0045026 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2437 Czeizel-Losonci syndrome HP:0100760 ORPHA:2437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000218 ORPHA:314588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001263 ORPHA:314588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001507 ORPHA:314588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001999 ORPHA:314588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000077 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000126 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000278 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000316 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000347 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000369 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000506 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000929 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001252 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001328 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001363 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001520 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0003517 ORPHA:314588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000034 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000085 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000113 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000238 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000378 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000407 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000486 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000766 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0000811 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001131 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001166 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001305 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001371 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001511 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001627 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001631 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0001643 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0002089 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0002650 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0002667 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0002808 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0003396 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0008551 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0010946 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0011039 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0012304 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0012385 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314588 Distal tetrasomy 15q HP:0100790 ORPHA:314588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001263 ORPHA:529965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001290 ORPHA:529965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000307 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000494 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000574 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001249 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0002007 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0007874 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0010648 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0011098 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0011800 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0012393 ORPHA:529965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000256 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000729 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0000733 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001211 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001250 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0002721 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0008897 ORPHA:529965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000750 ORPHA:529962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0001256 ORPHA:529962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0001956 ORPHA:529962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000219 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000316 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000322 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000325 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000347 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000403 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000431 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000470 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000475 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000490 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000494 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000508 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000545 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000574 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000664 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000692 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000708 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000739 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0001250 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0001531 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0002650 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0002967 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0003019 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0003028 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0008551 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0008607 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0008935 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0009824 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0010794 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0011800 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0011968 ORPHA:529962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000362 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000718 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000712 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000738 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000869 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0001657 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0011304 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0011648 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0200053 ORPHA:529962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000076 ORPHA:529962 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0001642 ORPHA:529962 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0012683 ORPHA:529962 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:529962 17q24.2 microdeletion syndrome HP:0000824 ORPHA:529962 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0002069 ORPHA:363549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0007103 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0007185 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0011172 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0012705 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0031691 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0032308 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0032894 ORPHA:363549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0033349 ORPHA:363549 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0007738 ORPHA:363549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0031475 ORPHA:363549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0011665 ORPHA:363549 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0000853 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0001482 ORPHA:163634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0001510 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0002015 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0002650 ORPHA:163634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0002653 ORPHA:163634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0002757 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0002797 ORPHA:163634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0002893 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0002897 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0003002 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0004322 ORPHA:163634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0004936 ORPHA:163634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0005701 ORPHA:163634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0006765 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0006824 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0007461 ORPHA:163634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0009592 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0100021 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0100242 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0100615 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0100641 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0100733 ORPHA:163634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163634 Maffucci syndrome HP:0100777 ORPHA:163634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0011123 ORPHA:39812 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0000155 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002014 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002719 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002910 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0010280 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0040186 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0200041 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0200123 ORPHA:39812 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0000737 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0000952 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0001369 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0001433 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0001649 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002013 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002018 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002027 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002090 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002113 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002904 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002996 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0003155 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0003202 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0004386 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0006467 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0012156 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0031123 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0031359 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0031452 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0040189 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0100533 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0100537 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0100614 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0200119 ORPHA:39812 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0000211 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0000633 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0001508 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0002716 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0005198 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0005679 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:39812 Graft versus host disease HP:0009125 ORPHA:39812 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000154 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000219 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000232 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000256 ORPHA:2429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000280 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000303 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000322 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000336 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000337 ORPHA:2429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000348 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000490 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000574 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000664 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001249 ORPHA:2429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001250 ORPHA:2429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001257 ORPHA:2429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001288 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001347 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0001956 ORPHA:2429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0002162 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0002650 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0002808 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0003196 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0100874 ORPHA:2429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000218 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000219 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000248 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000369 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000400 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000494 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000767 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0001363 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0002007 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0002021 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0004322 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0005280 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0008689 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0008947 ORPHA:314575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001388 ORPHA:93360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002652 ORPHA:93360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002656 ORPHA:93360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0004322 ORPHA:93360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0011800 ORPHA:93360 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0000926 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001238 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001518 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001602 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001832 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002651 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002663 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002761 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002857 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002970 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0003025 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0003088 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0006014 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0006236 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0008755 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0008857 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0009815 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0010674 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0012095 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0012368 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0031367 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0040064 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0100168 ORPHA:93360 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0000486 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001250 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002650 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002751 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002808 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002827 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0002987 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0003048 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0003370 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0004875 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0005619 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0006536 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0030043 ORPHA:93360 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0000762 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001265 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001609 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0003198 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0003458 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0003557 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0007340 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0008180 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0008619 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0009063 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0009830 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0010219 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0012548 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0030774 ORPHA:397744 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001284 ORPHA:397744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001337 ORPHA:397744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0003701 ORPHA:397744 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001250 ORPHA:397744 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001369 ORPHA:397744 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0001605 ORPHA:397744 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0002015 ORPHA:397744 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000119 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000126 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000276 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000280 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000431 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000637 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000750 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001249 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001252 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001270 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001627 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002465 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0011039 ORPHA:453499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000028 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000076 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000175 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000194 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000218 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000221 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000252 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000365 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000430 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000508 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000586 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001315 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001363 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001385 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001508 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001511 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001629 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001883 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002019 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002020 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002079 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002579 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002650 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002714 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0003186 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0003422 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0005487 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0010880 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0012332 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000158 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000193 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000476 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000589 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000666 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000677 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000821 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000938 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001250 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001284 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001324 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001357 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001631 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001647 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0001954 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002046 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002202 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0002282 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0003396 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0003763 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0004467 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0004970 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0006695 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0007328 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0007550 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0009794 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0011470 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0025487 ORPHA:453499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0011024 ORPHA:453499 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000023 ORPHA:2412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000079 ORPHA:2412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000160 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000174 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000272 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000286 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000316 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000364 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000431 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000457 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0000463 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0001374 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0001643 ORPHA:2412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0001671 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0001702 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0002815 ORPHA:2412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0004097 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0005692 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0010759 ORPHA:2412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2412 Dislocation of the hip-dysmorphism syndrome HP:0011328 ORPHA:2412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000944 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001388 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001508 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001999 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0003468 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0004322 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0005930 ORPHA:93359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000520 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000592 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000926 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001385 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0002650 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0002751 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0002827 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0004568 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0006439 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0009811 ORPHA:93359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000175 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000218 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000347 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000365 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000768 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000946 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0000974 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001249 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001377 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001627 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0001762 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0002659 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0002987 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0003015 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0003083 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0006543 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0009465 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity HP:0011341 ORPHA:93359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000013 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000104 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000137 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000142 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000175 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000322 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000411 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000470 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000574 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000664 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000786 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0000914 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0001007 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0001061 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0001156 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0001513 ORPHA:247768 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0002292 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0002967 ORPHA:247768 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0004322 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0009890 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0009937 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247768 Müllerian aplasia and hyperandrogenism HP:0030088 ORPHA:247768 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000518 ORPHA:2410 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000815 ORPHA:2410 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000144 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000786 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000823 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000837 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0000939 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0002750 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0008187 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0008240 ORPHA:2410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0002757 ORPHA:2410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0004322 ORPHA:2410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2410 Hypergonadotropic hypogonadism-cataract syndrome HP:0004349 ORPHA:2410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0000768 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0000772 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0000926 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0000939 ORPHA:93351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0000944 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001169 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001191 ORPHA:93351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001288 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001367 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001376 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001763 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0001769 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002651 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002758 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002812 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002829 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002857 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0002983 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0004279 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0005048 ORPHA:93351 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0005930 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0008839 ORPHA:93351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0008873 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0009824 ORPHA:93351 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0010049 ORPHA:93351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93351 Spondyloepimetaphyseal dysplasia, Irapa type HP:0010743 ORPHA:93351 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0000926 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002650 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002829 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003015 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003016 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003026 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003088 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003468 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003498 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003510 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0005257 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0005930 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0006462 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0008463 ORPHA:93352 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0000470 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0001388 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0001433 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0001602 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0001609 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002663 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002777 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002781 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002953 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002970 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0002979 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003025 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003099 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003270 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0003307 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0008418 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0008450 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0009826 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type HP:0025426 ORPHA:93352 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000010 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000122 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000306 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000316 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000348 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000411 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000431 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000455 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000463 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000490 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000609 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000924 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000938 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000953 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0000998 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001249 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001251 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001263 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001319 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001369 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001537 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001761 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0001999 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002020 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002058 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002080 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002100 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002119 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002123 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002162 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002403 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002643 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002718 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002841 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002850 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0003307 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0003460 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0003765 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0004313 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0004429 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0005280 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0005387 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0005407 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0006610 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0007678 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0009098 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0009650 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0009844 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0009891 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0010282 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0010579 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0010750 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0010976 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0025540 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0031014 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0031381 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0031382 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0032132 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0032140 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0040022 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0040024 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0040025 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0040218 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0040288 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0100540 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0410018 ORPHA:221139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002007 ORPHA:221139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0002014 ORPHA:221139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies HP:0004425 ORPHA:221139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000925 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000926 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001999 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0005280 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0008873 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0011800 ORPHA:93357 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001156 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001511 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001518 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0002857 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0003025 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0004586 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0008905 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0009826 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0031367 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0100864 ORPHA:93357 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000047 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000276 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000286 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000303 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000445 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000463 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000518 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000639 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000691 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000696 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000821 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0000826 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001169 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001263 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001377 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001388 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001607 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001621 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001763 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001769 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001773 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0001875 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0002007 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0002308 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0002650 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0002663 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0002751 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0002761 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0002812 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0002827 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0002938 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0003015 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0003016 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0003026 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0003027 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0003182 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0003196 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0003370 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0003895 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0004279 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0004313 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0004482 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0004603 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0004646 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0004944 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0005446 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0005743 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0006336 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0006532 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0006889 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0007707 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0010234 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0010585 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0010740 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0010941 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0011220 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0025492 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0030043 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0030833 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0030834 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0030839 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0040221 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93357 SPONASTRIME dysplasia HP:0100559 ORPHA:93357 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0000124 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0000531 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0000613 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0001508 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0001510 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0001941 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0001944 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0001959 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0001969 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0001994 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0002013 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0002019 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0002148 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0002748 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0002900 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0003076 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0003109 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0003111 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0003126 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0003355 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0004918 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0100511 ORPHA:411629 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0000481 ORPHA:411629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0000580 ORPHA:411629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0002926 ORPHA:411629 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0002500 ORPHA:411629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411629 Infantile nephropathic cystinosis HP:0100543 ORPHA:411629 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000750 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001250 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0002269 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0007359 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0012757 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0031936 ORPHA:163681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001263 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001268 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001270 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0002465 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0007064 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0007334 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0010845 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0010864 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0011182 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0011198 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0012001 ORPHA:163681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000316 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000494 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000639 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000708 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000717 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000718 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000742 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000744 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000752 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000817 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0000826 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001251 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001252 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001265 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001284 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001344 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001513 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0001761 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0002061 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0002240 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0002342 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0004879 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0006855 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0006970 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0010863 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0011193 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0011968 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0012166 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0012171 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0025160 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0100021 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy HP:0100258 ORPHA:163681 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0000961 ORPHA:2414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001510 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001541 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001635 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001642 ORPHA:2414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001744 ORPHA:2414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0001789 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0002020 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0002092 ORPHA:2414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0002098 ORPHA:2414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0002202 ORPHA:2414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0002240 ORPHA:2414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0005180 ORPHA:2414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0006510 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0011852 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2414 Congenital pulmonary lymphangiectasia HP:0012735 ORPHA:2414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0002970 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0002980 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0002982 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0003015 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0003025 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0003071 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0003498 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0004566 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0005086 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0006385 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0010585 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93356 Spondyloepimetaphyseal dysplasia, Missouri type HP:0025369 ORPHA:93356 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001256 ORPHA:476126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001263 ORPHA:476126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002465 ORPHA:476126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000164 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000324 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000347 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000348 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000664 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000678 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000708 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000729 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001182 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002650 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002719 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0004691 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0008872 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0011451 ORPHA:476126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000020 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000218 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000286 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000343 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000486 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000646 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000706 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000718 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000722 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000733 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000742 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0000767 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001155 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001250 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001328 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001337 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001344 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001508 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001674 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001763 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002033 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002066 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002360 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0002808 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0003072 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0003196 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0004209 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0004279 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0005484 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0006889 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0007018 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0007970 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0009659 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0010035 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0011471 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0011908 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0012450 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0200006 ORPHA:476126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0000975 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0001063 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0001265 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0001387 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0002571 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0003202 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2400 Peripheral motor neuropathy-dysautonomia syndrome HP:0003457 ORPHA:2400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0000268 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0000278 ORPHA:163690 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0000286 ORPHA:163690 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0000508 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0000787 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0001252 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0001508 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0001510 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0001558 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0001611 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0002007 ORPHA:163690 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0002591 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0003131 ORPHA:163690 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163690 Hypotonia-cystinuria syndrome HP:0012378 ORPHA:163690 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000175 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000252 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000369 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000444 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000494 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000520 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000680 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000776 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0001087 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0001363 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0001510 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0001511 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0002012 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0007370 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0011344 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0030680 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000023 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000047 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000078 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000237 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000238 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000243 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000278 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000327 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000347 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000348 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000453 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000485 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000572 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000592 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000938 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000939 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000954 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0001269 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0001680 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0002021 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0002705 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0002714 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0003194 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0003196 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0004439 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0004554 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0005211 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0005442 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0006695 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0007957 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0000577 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0008689 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0011087 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0025247 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0100538 ORPHA:2409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2409 Lowry-MacLean syndrome HP:0001250 ORPHA:2409 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2408 Lowe-Kohn-Cohen syndrome HP:0000112 ORPHA:2408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2408 Lowe-Kohn-Cohen syndrome HP:0000384 ORPHA:2408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2408 Lowe-Kohn-Cohen syndrome HP:0000407 ORPHA:2408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2408 Lowe-Kohn-Cohen syndrome HP:0002023 ORPHA:2408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2408 Lowe-Kohn-Cohen syndrome HP:0012732 ORPHA:2408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0000365 ORPHA:2406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0000478 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0000504 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0000651 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0000708 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0001257 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0001276 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0001608 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0002093 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0002205 ORPHA:2406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0002273 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0002425 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0002445 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0003781 ORPHA:2406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0011968 ORPHA:2406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2406 Locked-in syndrome HP:0100021 ORPHA:2406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0003015 ORPHA:93346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0045060 ORPHA:93346 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000162 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000280 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000316 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000347 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000365 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000545 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0003026 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0003173 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0003468 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0008462 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0010585 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0012368 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0100569 ORPHA:93346 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000670 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0000926 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0001216 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0002176 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0002795 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0005193 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0008755 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0008800 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0009800 ORPHA:93346 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0000135 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0000368 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0000527 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0000787 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0001250 ORPHA:163693 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0001252 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0001263 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0001508 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0001510 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0001558 ORPHA:163693 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0001611 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0001943 ORPHA:163693 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0002007 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0002342 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0002901 ORPHA:163693 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0003128 ORPHA:163693 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0003131 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0005280 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163693 2p21 microdeletion syndrome HP:0200125 ORPHA:163693 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0010803 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0010804 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0012553 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0012555 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000154 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000252 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000280 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000286 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000316 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000343 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000400 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000431 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000445 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000527 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000574 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000684 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0001250 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0001290 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0001344 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0001488 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0001847 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0002019 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0002058 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0002353 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0004322 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0005280 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0010624 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0010864 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0011304 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0011344 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0012443 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0012471 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000194 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000212 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000218 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000232 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000272 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000293 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000294 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0000463 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0001802 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0001804 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0006016 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0009648 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0009660 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0009882 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0009890 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420561 Temple-Baraitser syndrome HP:0009928 ORPHA:420561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000256 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000280 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001371 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001376 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001510 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002159 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0004322 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0008301 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0012379 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0030680 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0100490 ORPHA:217093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000023 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000158 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000212 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000293 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000336 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000407 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000431 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000445 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000505 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001537 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001609 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001654 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002788 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0006482 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0010535 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0030148 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0030812 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0040261 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0410018 ORPHA:217093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000362 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000405 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000488 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000493 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000553 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000648 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000654 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000662 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000736 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000822 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000900 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001085 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001273 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001369 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001385 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001433 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001633 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001638 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001641 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001679 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001702 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001744 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002028 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002091 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002176 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002360 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002500 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002781 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0003416 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0003468 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0004950 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0005019 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0005216 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0007703 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0007957 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0007994 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0011355 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0011675 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0012185 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0012471 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0012478 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0030823 ORPHA:217093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000707 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0000708 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001250 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001263 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0001268 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0002376 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:217093 Mucopolysaccharidosis type 2, attenuated form HP:0100543 ORPHA:217093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0001744 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0001873 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0001892 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0001903 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0011869 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0011902 ORPHA:231393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0000722 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0001260 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0001300 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0002313 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0002339 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0002355 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0002453 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0002454 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0003477 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0010663 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0010994 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0012048 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397725 COASY protein-associated neurodegeneration HP:0100543 ORPHA:397725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000252 ORPHA:280763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001252 ORPHA:280763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0007020 ORPHA:280763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0010864 ORPHA:280763 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000280 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000297 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000414 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001257 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001263 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001272 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001332 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001347 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002120 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002307 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002355 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002464 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002465 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002515 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0003487 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0004322 ORPHA:280763 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000154 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000218 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000322 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000341 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000733 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001250 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0001763 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002079 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002518 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0010803 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0025502 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0100962 ORPHA:280763 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000486 ORPHA:280763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000646 ORPHA:280763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002761 ORPHA:280763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0002816 ORPHA:280763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0008807 ORPHA:280763 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000750 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001256 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001290 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001533 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001611 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001711 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001763 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001999 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000286 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000316 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000322 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000325 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000494 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000687 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000717 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000718 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000823 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001250 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001251 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001321 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001357 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001388 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001508 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001629 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001631 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001643 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001655 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001667 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001712 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0001822 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002007 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002020 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002079 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002080 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002465 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002558 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002684 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002870 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0004209 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0004684 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0005180 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0007024 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0007083 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0007099 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0007449 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0008689 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0010316 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0010627 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0011098 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0012471 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0030872 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0032009 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0040288 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0004482 ORPHA:466791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000194 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000272 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000276 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000426 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000446 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000448 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000486 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000545 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000582 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000678 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000739 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002033 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002194 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002421 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002705 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0002751 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0006989 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0009703 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0011968 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0100962 ORPHA:466791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000028 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000154 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000219 ORPHA:466791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0040322 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0010472 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0012379 ORPHA:100924 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000707 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0001289 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000713 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000739 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000711 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000738 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0031258 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0007159 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000741 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000716 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0100852 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0009830 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0007178 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000763 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0004302 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0001324 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002027 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002018 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002572 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002019 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0003270 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002014 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0011121 ORPHA:100924 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0001271 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002902 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002086 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0005547 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0012217 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0012187 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0033010 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0030272 ORPHA:100924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0003690 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0001260 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002093 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0005946 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0001256 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000717 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0000365 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0002355 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:100924 Porphyria due to ALA dehydratase deficiency HP:0006466 ORPHA:100924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0000926 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0002815 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0002867 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0003028 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0003468 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0003521 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0004322 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0005193 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0010665 ORPHA:163665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0001256 ORPHA:163665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163665 Spondyloepiphyseal dysplasia tarda, Kohn type HP:0002342 ORPHA:163665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411641 Ocular cystinosis HP:0000505 ORPHA:411641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411641 Ocular cystinosis HP:0000531 ORPHA:411641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411641 Ocular cystinosis HP:0000613 ORPHA:411641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411641 Ocular cystinosis HP:0032639 ORPHA:411641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0000641 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001152 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001256 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001263 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001265 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001395 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001433 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001945 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0002066 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0002073 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0002080 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0002359 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0003401 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0003474 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0006554 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0006855 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0009053 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0009055 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0009830 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0025268 ORPHA:466794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0000648 ORPHA:466794 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001257 ORPHA:466794 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001347 ORPHA:466794 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0001762 ORPHA:466794 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0007663 ORPHA:466794 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0100515 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0100577 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0000142 ORPHA:37202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0000009 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0000012 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0000014 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0000017 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0000058 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0000078 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0000140 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0000795 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0012531 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:37202 Interstitial cystitis HP:0030016 ORPHA:37202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000256 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000470 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000882 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000946 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0001156 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0001374 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0002987 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0003041 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0003097 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0003943 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0004987 ORPHA:93333 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000369 ORPHA:93333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0002693 ORPHA:93333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0004322 ORPHA:93333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000316 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000365 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000377 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000402 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000486 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000490 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0000581 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0002007 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0002162 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93333 Pelviscapular dysplasia HP:0005989 ORPHA:93333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0000982 ORPHA:498359 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0007407 ORPHA:498359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0007410 ORPHA:498359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0025080 ORPHA:498359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0031248 ORPHA:498359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0031289 ORPHA:498359 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0000969 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0001047 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0002725 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0005425 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0006261 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0200035 ORPHA:498359 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0000028 ORPHA:93328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0000048 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0000062 ORPHA:93328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0000272 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0000316 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0000343 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0000347 ORPHA:93328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0002007 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0002999 ORPHA:93328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0003042 ORPHA:93328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0003196 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0004279 ORPHA:93328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0005280 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0005792 ORPHA:93328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0008736 ORPHA:93328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0008905 ORPHA:93328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93328 Autosomal dominant omodysplasia HP:0010034 ORPHA:93328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0000343 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0000358 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0000369 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0000463 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0000944 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0002007 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0002818 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0003042 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0004322 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0005025 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0005280 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0008905 ORPHA:93329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0000028 ORPHA:93329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0000347 ORPHA:93329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0002823 ORPHA:93329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0002983 ORPHA:93329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0003027 ORPHA:93329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0001059 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0001249 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0001363 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0003196 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0010880 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0030680 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93329 Autosomal recessive omodysplasia HP:0100790 ORPHA:93329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000028 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000218 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000316 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000347 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000368 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000426 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000520 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000581 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0001249 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0002236 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0002553 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0002996 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0004322 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0009891 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0009911 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0010657 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0040064 ORPHA:221120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000023 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000085 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000202 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000238 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000256 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000268 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000286 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000322 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000324 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000337 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000387 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000602 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000691 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000767 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000884 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0000954 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0001156 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0001238 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0001263 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0001611 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0001655 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0001746 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0001763 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0001845 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0001864 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0002007 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0002033 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0002209 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0003186 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0003473 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0004442 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0004684 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0005048 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0006610 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0008598 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0008947 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0009739 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0009778 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0010044 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0010767 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0011470 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0025193 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0030043 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0040025 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0100259 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221120 Pseudoaminopterin syndrome HP:0100759 ORPHA:221120 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0000481 ORPHA:411634 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0000083 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0000093 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0000114 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0000531 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0000613 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0001994 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0002013 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0003076 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0003126 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0003355 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0200026 ORPHA:411634 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0000117 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0000821 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0001510 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0001959 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0002148 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0002900 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0002901 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0002902 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0002907 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0003259 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0003537 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0003774 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0004396 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0010639 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0012598 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0012622 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0032639 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0100512 ORPHA:411634 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0001250 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0001508 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0001942 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0001944 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0002750 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0003472 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0011106 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0011314 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:411634 Juvenile nephropathic cystinosis HP:0011968 ORPHA:411634 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0006495 ORPHA:93320 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0001180 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0002758 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0002986 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0002996 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0003059 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0004059 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0005773 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0006055 ORPHA:93320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0000882 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0001377 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0002650 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0002987 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0003041 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0003083 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0003316 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0003887 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0003967 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0005879 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0006376 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0006467 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0006633 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0009164 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0009238 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0009281 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0009471 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0009701 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0009702 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0009760 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0009813 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0009959 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0010011 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0010048 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0010176 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0010301 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0010331 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0030835 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0100558 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93320 Ulnar hemimelia HP:0100745 ORPHA:93320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93321 Radial hemimelia HP:0006501 ORPHA:93321 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:93321 Radial hemimelia HP:0001172 ORPHA:93321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93321 Radial hemimelia HP:0004243 ORPHA:93321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93321 Radial hemimelia HP:0004252 ORPHA:93321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93321 Radial hemimelia HP:0009484 ORPHA:93321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93321 Radial hemimelia HP:0010035 ORPHA:93321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0002199 ORPHA:93324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0002901 ORPHA:93324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0008198 ORPHA:93324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000252 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000270 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000293 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000316 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000670 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000883 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0001510 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0001511 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0001773 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0002750 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0003472 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0004331 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0005450 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0005791 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0006470 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0006645 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0008897 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0100254 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0200055 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0000270 ORPHA:93325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0004322 ORPHA:93325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0005791 ORPHA:93325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0100254 ORPHA:93325 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0000316 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0000540 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0000670 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0001085 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0001510 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0001511 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0001903 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0002135 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0002199 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0002750 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0002905 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0003472 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0004331 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0005450 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0005490 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0006470 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0007633 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0007862 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0008198 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0008734 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0008897 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0011220 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0030346 ORPHA:93325 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0000519 ORPHA:93325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0001620 ORPHA:93325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome HP:0006335 ORPHA:93325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0001762 ORPHA:93322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0009556 ORPHA:93322 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0001171 ORPHA:93322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0004987 ORPHA:93322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0006380 ORPHA:93322 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0001159 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0001385 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0001839 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0001840 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0001849 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0003974 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0004059 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0005736 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0005892 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0006426 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0006460 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0008368 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0010037 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0010043 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0010442 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0010554 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0012165 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0012386 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0030032 ORPHA:93322 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0000028 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0000047 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0000062 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0000175 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0000365 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0002475 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0002673 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0002827 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93322 Tibial hemimelia HP:0002937 ORPHA:93322 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0001260 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0001272 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002066 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002080 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002136 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002194 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002355 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002359 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002373 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0006855 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0007010 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0009062 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0012759 ORPHA:512260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0000639 ORPHA:512260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0001410 ORPHA:512260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0001273 ORPHA:512260 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation HP:0002120 ORPHA:512260 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0030772 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0031058 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0045086 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0000110 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0000478 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0000528 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0000593 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001249 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001363 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001627 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001849 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001873 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0002414 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0002990 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0003274 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0040071 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0100257 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0100656 ORPHA:93323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0002355 ORPHA:93323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0002991 ORPHA:93323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001762 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0002857 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0002982 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0005736 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0006437 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0009826 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0040069 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0100559 ORPHA:93323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001376 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001387 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001388 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001770 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001772 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0001831 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0002979 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0003038 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0003097 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0003184 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0003365 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0005085 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0006101 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0006460 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0010219 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0011849 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0012165 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0012531 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93323 Fibular hemimelia HP:0030043 ORPHA:93323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508410 Familial intestinal malrotation HP:0000316 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508410 Familial intestinal malrotation HP:0000348 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508410 Familial intestinal malrotation HP:0000463 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508410 Familial intestinal malrotation HP:0000637 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508410 Familial intestinal malrotation HP:0002007 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508410 Familial intestinal malrotation HP:0002566 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508410 Familial intestinal malrotation HP:0002580 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508410 Familial intestinal malrotation HP:0005280 ORPHA:508410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0000989 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0001019 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0001025 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0005587 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0006543 ORPHA:280785 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0008066 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280785 Bullous diffuse cutaneous mastocytosis HP:0200151 ORPHA:280785 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000044 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000144 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000147 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000545 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000869 ORPHA:1643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0000960 ORPHA:1643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0002916 ORPHA:1643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0004322 ORPHA:1643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0004397 ORPHA:1643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0007759 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0008056 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1643 Xp22.3 microdeletion syndrome HP:0008065 ORPHA:1643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000061 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000063 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000347 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000786 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0003083 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0003871 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0007628 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0010650 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0040253 ORPHA:2975 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000130 ORPHA:2975 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000137 ORPHA:2975 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2975 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000142 ORPHA:2975 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000047 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000059 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000164 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000175 ORPHA:1642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000243 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000286 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000316 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000368 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000431 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000470 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000520 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0000582 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0001156 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0001249 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0001252 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0001263 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0030680 ORPHA:1642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0002705 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0003196 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0006610 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0008551 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0009738 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0009906 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0011039 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0011800 ORPHA:1642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0100625 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1642 Distal monosomy 9p HP:0100790 ORPHA:1642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0003310 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0004979 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0006505 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0007517 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0007574 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0008788 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0010864 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0012767 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0430005 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0430028 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:3000077 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0010819 ORPHA:2976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0012412 ORPHA:2976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0030348 ORPHA:2976 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0001511 ORPHA:2976 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0000015 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0000400 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0000448 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0000819 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0001007 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0001176 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0001386 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0001833 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0002069 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0002684 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0002750 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0002751 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0002857 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type HP:0003180 ORPHA:2976 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2978 Chronic intestinal pseudoobstruction HP:0001643 ORPHA:2978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2978 Chronic intestinal pseudoobstruction HP:0002021 ORPHA:2978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2978 Chronic intestinal pseudoobstruction HP:0002242 ORPHA:2978 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2978 Chronic intestinal pseudoobstruction HP:0002566 ORPHA:2978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2978 Chronic intestinal pseudoobstruction HP:0011875 ORPHA:2978 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2978 Chronic intestinal pseudoobstruction HP:0012639 ORPHA:2978 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000252 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001249 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001250 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001263 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001252 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0100704 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000011 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000407 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000648 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001257 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001344 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001510 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002019 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002079 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002119 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002188 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002373 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0012332 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002465 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002518 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0002828 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0007204 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0007301 ORPHA:466934 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001272 ORPHA:466934 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000280 ORPHA:466934 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0001433 ORPHA:466934 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000510 ORPHA:436274 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000662 ORPHA:436274 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000973 ORPHA:436274 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000486 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000587 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0001582 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0007522 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0007843 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0007980 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0200034 ORPHA:436274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0001098 ORPHA:436274 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0000044 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0000047 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0000135 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0000238 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0000568 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0000589 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0000823 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0001249 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0001513 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0004322 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0005321 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141333 Biemond syndrome type 2 HP:0100258 ORPHA:141333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0006980 ORPHA:436271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0007133 ORPHA:436271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000093 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000124 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000508 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000580 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000648 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0000750 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001249 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001250 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001251 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001262 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001263 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001270 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001288 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001290 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001410 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001508 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001639 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001903 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001994 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002240 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002376 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002490 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002747 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002875 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0003076 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0003109 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0003128 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0003324 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0003355 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0006555 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0007256 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0008619 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0030195 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0040291 ORPHA:436271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0001285 ORPHA:436271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0002013 ORPHA:436271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000003 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000010 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000014 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000028 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000069 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000072 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000076 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000083 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000130 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000144 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000767 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0000772 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0001374 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0001508 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0001562 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0001629 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0001631 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0001636 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0001643 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0001762 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0002019 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0002023 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0002205 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0002566 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0002580 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0002650 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0003422 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0005199 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0006703 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0008734 ORPHA:2970 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0010957 ORPHA:2970 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0011100 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0100543 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2970 Prune belly syndrome HP:0100779 ORPHA:2970 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280779 Cutaneous collagenous vasculopathy HP:0007489 ORPHA:280779 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:280779 Cutaneous collagenous vasculopathy HP:0000967 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280779 Cutaneous collagenous vasculopathy HP:0000978 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280779 Cutaneous collagenous vasculopathy HP:0000988 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280779 Cutaneous collagenous vasculopathy HP:0007394 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280779 Cutaneous collagenous vasculopathy HP:0010783 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280779 Cutaneous collagenous vasculopathy HP:0011276 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280779 Cutaneous collagenous vasculopathy HP:0012733 ORPHA:280779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280779 Cutaneous collagenous vasculopathy HP:0001939 ORPHA:280779 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280779 Cutaneous collagenous vasculopathy HP:0000989 ORPHA:280779 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001256 ORPHA:314647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001263 ORPHA:314647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000179 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000276 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000307 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000343 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000414 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000445 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000463 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000486 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000490 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000718 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000729 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000750 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001251 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001260 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001310 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001319 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001321 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002019 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002317 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002354 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002470 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002536 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0012433 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0011166 ORPHA:314647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000160 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000256 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0001348 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002003 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002080 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002120 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0007256 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0011067 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0025517 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0100540 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0400005 ORPHA:314647 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0000639 ORPHA:314647 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability HP:0002403 ORPHA:314647 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000286 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000316 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000369 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000407 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000486 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000512 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000545 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000639 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000648 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000649 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0000668 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001161 ORPHA:2971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001250 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001252 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001263 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001276 ORPHA:2971 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001288 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001347 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001508 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001522 ORPHA:2971 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0001939 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0002093 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0002167 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0002240 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0002353 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0002376 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0005280 ORPHA:2971 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0010864 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency HP:0012639 ORPHA:2971 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000028 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000154 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000202 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000238 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000316 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000365 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000384 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000508 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000612 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000625 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000639 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000772 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000776 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0000921 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001053 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001161 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001231 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001249 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001250 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001260 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001305 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001321 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001362 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001374 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001596 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0001883 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0002006 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0002119 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0002126 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0002334 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0004374 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0006101 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0007370 ORPHA:1647 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0007957 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0008065 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0008572 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0009882 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0010185 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0010609 ORPHA:1647 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1647 Oculocerebrocutaneous syndrome HP:0100777 ORPHA:1647 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0000272 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0000368 ORPHA:2972 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0000668 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0000684 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0002857 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0005439 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0006329 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0006482 ORPHA:2972 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1646 Partial chromosome Y deletion HP:0000028 ORPHA:1646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1646 Partial chromosome Y deletion HP:0000798 ORPHA:1646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1646 Partial chromosome Y deletion HP:0003251 ORPHA:1646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1646 Partial chromosome Y deletion HP:0008669 ORPHA:1646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1646 Partial chromosome Y deletion HP:0008734 ORPHA:1646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1646 Partial chromosome Y deletion HP:0011961 ORPHA:1646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000003 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000072 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000126 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000795 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000812 ORPHA:2973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0001562 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0002023 ORPHA:2973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0002093 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0002566 ORPHA:2973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0002575 ORPHA:2973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0006501 ORPHA:2973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0008678 ORPHA:2973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0010458 ORPHA:2973 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0100627 ORPHA:2973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2973 46,XX disorder of sex development-anorectal anomalies syndrome HP:0100779 ORPHA:2973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0000775 ORPHA:505395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0005946 ORPHA:505395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0009113 ORPHA:505395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0025464 ORPHA:505395 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0003457 ORPHA:505395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0012496 ORPHA:505395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0032169 ORPHA:505395 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0000821 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0002747 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0011458 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0012416 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0032341 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0100806 ORPHA:505395 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505395 Ventilator-induced diaphragmatic dysfunction HP:0006597 ORPHA:505395 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis HP:0008066 ORPHA:280794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis HP:0200151 ORPHA:280794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000388 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000750 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000943 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001249 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001328 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002719 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002721 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0010471 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0011842 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0012379 ORPHA:309282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000280 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000316 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000410 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000486 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000518 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000540 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000545 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000736 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001251 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001252 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001256 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001270 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001433 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002090 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0003198 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0011334 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0025406 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0031123 ORPHA:309282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000158 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000248 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000256 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000297 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000303 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000337 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000407 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000470 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000483 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000520 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000543 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000687 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000708 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000716 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000738 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000739 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000746 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000767 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000768 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000900 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000926 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000938 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000977 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001258 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001272 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001289 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001363 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001387 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001388 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001519 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001537 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001653 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001776 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001876 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002120 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002308 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002312 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002329 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002553 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002679 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002684 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002797 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002857 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0004437 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0004684 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0005280 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0005791 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0007957 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0008821 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0009062 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0010665 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0010885 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0011220 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0012157 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0012368 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0430022 ORPHA:309282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0000010 ORPHA:309282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001334 ORPHA:309282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0001659 ORPHA:309282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309282 Alpha-mannosidosis, infantile form HP:0002371 ORPHA:309282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0011771 ORPHA:36913 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0002901 ORPHA:36913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0002905 ORPHA:36913 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0000518 ORPHA:36913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0003401 ORPHA:36913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0030057 ORPHA:36913 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0000509 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0000716 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0000737 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0000739 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0001265 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0001289 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0001657 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0002094 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0002728 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0002960 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0003394 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0003472 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0003739 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0004724 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0011001 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0011458 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0012049 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0100749 ORPHA:36913 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0001677 ORPHA:36913 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0002199 ORPHA:36913 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0004308 ORPHA:36913 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:36913 Autoimmune hypoparathyroidism HP:0005162 ORPHA:36913 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0001256 ORPHA:309288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0010471 ORPHA:309288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0001251 ORPHA:309288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0002719 ORPHA:309288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0025406 ORPHA:309288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000158 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000410 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000518 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000545 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000708 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000716 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000738 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000739 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000746 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000750 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000938 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0001272 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0001289 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0001433 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0002090 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0002120 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0002312 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0002329 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0002721 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0012157 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0031123 ORPHA:309288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0000543 ORPHA:309288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0001659 ORPHA:309288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0001876 ORPHA:309288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309288 Alpha-mannosidosis, adult form HP:0007957 ORPHA:309288 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2964 Autosomal dominant prognathism HP:0000232 ORPHA:2964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2964 Autosomal dominant prognathism HP:0000303 ORPHA:2964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2964 Autosomal dominant prognathism HP:0010807 ORPHA:2964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000026 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000044 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000141 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000134 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000135 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000140 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000508 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000529 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000618 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000651 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000771 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000802 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000823 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000830 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000845 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000858 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000868 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000938 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000939 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000980 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0001117 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0001250 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0002315 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0006824 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0002013 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0002017 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0002321 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0002615 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0002920 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0000044 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0003388 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0006897 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0007011 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0007942 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0008240 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0008245 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0011362 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0011734 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0011735 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0011748 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0012041 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0012246 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0012377 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0012378 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0012503 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0030018 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0030016 ORPHA:2965 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0030517 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0030521 ORPHA:2965 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0100639 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2965 Prolactinoma HP:0100829 ORPHA:2965 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0002718 ORPHA:2968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0011990 ORPHA:2968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0040238 ORPHA:2968 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000010 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000230 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000388 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0001581 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0001974 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0002090 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0002586 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0002841 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0005528 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0006527 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0007499 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0009098 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0011107 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0011947 ORPHA:2968 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000099 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000164 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000166 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000246 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000280 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000509 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000717 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000825 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0001249 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0001250 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0001287 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0001510 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0001892 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0001894 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0001901 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0002059 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0002110 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0002754 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0003540 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0004322 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0005575 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0008404 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0009789 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0011110 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0025452 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0030683 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0020087 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0100806 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0500035 ORPHA:2968 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000252 ORPHA:2968 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0001511 ORPHA:2968 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0004440 ORPHA:2968 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2968 Leukocyte adhesion deficiency HP:0004808 ORPHA:2968 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000147 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000238 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000256 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000268 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000303 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000463 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000494 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000518 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000541 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000545 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000615 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0000828 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0001028 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0001031 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0001100 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0001140 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0001249 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0001334 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0001744 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0002652 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0002816 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0005293 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0007400 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0009721 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0010516 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0010807 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0010816 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0100559 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0100730 ORPHA:2969 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0100774 ORPHA:2969 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2969 Proteus-like syndrome HP:0100777 ORPHA:2969 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0003549 ORPHA:217059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0001500 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0001795 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0001805 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0001821 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0001837 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0002164 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0011300 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0011304 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0100759 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0100760 ORPHA:217059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0008391 ORPHA:217059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0012203 ORPHA:217059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0000951 ORPHA:217059 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0000975 ORPHA:217059 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0002653 ORPHA:217059 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:217059 Isolated congenital digital clubbing HP:0002829 ORPHA:217059 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000750 ORPHA:466926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001250 ORPHA:466926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001263 ORPHA:466926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0004349 ORPHA:466926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000028 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000077 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000256 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000316 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000343 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000356 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000414 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000717 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000951 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001252 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001256 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001845 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002018 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002019 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002020 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002136 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002342 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0002650 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0030680 ORPHA:466926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000252 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000348 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001561 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0001631 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0004425 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0010864 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0011220 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0100777 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000028 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000154 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000175 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000252 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000293 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000347 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000400 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000414 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000470 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000486 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000582 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000648 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0000767 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0001250 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0001252 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0001276 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0001360 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0002683 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0004209 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0004322 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0006610 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0006889 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0007598 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0008736 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0009773 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0010978 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0012368 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0100335 ORPHA:1636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0100729 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1636 Distal monosomy 7q36 HP:0100790 ORPHA:1636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001611 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001762 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001788 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001884 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0002305 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0002645 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0002750 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0002751 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0002761 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0002812 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0003199 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0004322 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0005272 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0005328 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0005425 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0007457 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0007957 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0008070 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0008897 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0008947 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0009125 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0009748 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0010648 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0011003 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0011220 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0025167 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0200141 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000518 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000592 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001273 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001320 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001629 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0002073 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0007392 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0030604 ORPHA:2962 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000028 ORPHA:2962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001643 ORPHA:2962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0005301 ORPHA:2962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0008619 ORPHA:2962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0012304 ORPHA:2962 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0002097 ORPHA:2962 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000023 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000160 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000218 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000248 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000253 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000286 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000316 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000369 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000490 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000494 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000684 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000750 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000767 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000938 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000963 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0000973 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001181 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001263 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001347 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001374 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001476 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001508 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001511 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001537 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2962 De Barsy syndrome HP:0001558 ORPHA:2962 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0000232 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0000260 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0000286 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0000303 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0000337 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0000368 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0000486 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0000574 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0000973 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0003758 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0001508 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0001511 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0001537 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0001582 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0001595 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0001597 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0002230 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0002299 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0004322 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0004331 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0007477 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0007495 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0007740 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0008070 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0009721 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0009804 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0009882 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2963 Progeroid syndrome, Petty type HP:0100578 ORPHA:2963 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002063 ORPHA:314632 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001332 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001336 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001337 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002067 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002172 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002506 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002548 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0003487 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0025331 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0100543 ORPHA:314632 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001260 ORPHA:314632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001288 ORPHA:314632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0001324 ORPHA:314632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002339 ORPHA:314632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0012378 ORPHA:314632 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0000716 ORPHA:314632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002174 ORPHA:314632 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000648 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000712 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000726 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000736 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000738 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000746 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000762 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001260 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001265 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001290 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001324 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001332 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002312 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002354 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002355 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002359 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002376 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002415 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002922 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0004343 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0012433 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0030081 ORPHA:309271 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000020 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000649 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0000716 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001082 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001257 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002072 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002080 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002371 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002478 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002483 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0002607 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0003270 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0003444 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0003487 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001939 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0007133 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0007240 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0007272 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0007663 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0008619 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0100753 ORPHA:309271 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0001250 ORPHA:309271 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0004926 ORPHA:309271 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0025013 ORPHA:309271 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0031358 ORPHA:309271 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309271 Metachromatic leukodystrophy, adult form HP:0100575 ORPHA:309271 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35612 Nanophthalmos HP:0000486 ORPHA:35612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35612 Nanophthalmos HP:0000501 ORPHA:35612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35612 Nanophthalmos HP:0000568 ORPHA:35612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35612 Nanophthalmos HP:0000610 ORPHA:35612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35612 Nanophthalmos HP:0007703 ORPHA:35612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35612 Nanophthalmos HP:0008499 ORPHA:35612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000028 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000079 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000235 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000256 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000286 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000316 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000343 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000431 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000463 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000470 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0000774 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0001155 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0001252 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0001274 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0001387 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0006610 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1621 3q13 microdeletion syndrome HP:0008736 ORPHA:1621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000028 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000160 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000218 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000219 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000239 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000316 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000343 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000368 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000400 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000411 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000494 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000592 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000766 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000974 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000978 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001075 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001238 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001324 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001519 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001892 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001933 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002194 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002650 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002761 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002804 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0003196 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0003199 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0003319 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0005272 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0006184 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0008572 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0012534 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0031869 ORPHA:2953 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000308 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000483 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000486 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000541 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000545 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001182 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001581 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001582 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002019 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002751 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002947 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0003198 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0007906 ORPHA:2953 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000009 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000126 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000175 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000365 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000501 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000787 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001363 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001627 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0001654 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002107 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0002119 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0003414 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0100016 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0410030 ORPHA:2953 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000023 ORPHA:2953 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0000085 ORPHA:2953 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome HP:0004794 ORPHA:2953 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000023 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000028 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000175 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000218 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000233 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000248 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000252 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000286 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000316 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000325 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000343 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000347 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000365 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000368 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000463 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000470 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000506 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000508 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000581 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0000960 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0001162 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0001250 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0001252 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0001257 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0001511 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0001537 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0002119 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0002714 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0004209 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0004322 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0004467 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0006695 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0007670 ORPHA:1620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1620 Distal monosomy 3p HP:0100543 ORPHA:1620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002781 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0003416 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0003468 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0004950 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0005019 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0005216 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0007703 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0007957 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0007994 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0011355 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0011675 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0012185 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0012471 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0012478 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0030823 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000256 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000280 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000707 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001324 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001371 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001376 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001510 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002159 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0004322 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0008301 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0012379 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0030680 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0100490 ORPHA:217085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000023 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000158 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000212 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000293 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000336 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000431 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000445 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000505 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000708 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001263 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001268 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001537 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001609 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001654 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002360 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002788 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0006482 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0010535 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0030148 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0030812 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0040261 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0100543 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0410018 ORPHA:217085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000362 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000405 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000407 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000488 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000493 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000553 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000648 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000654 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000662 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000822 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0000900 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001085 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001250 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001369 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001385 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001433 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001633 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001638 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001641 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001679 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001702 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0001744 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002028 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002091 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002176 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217085 Mucopolysaccharidosis type 2, severe form HP:0002376 ORPHA:217085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2956 Acrodysplasia scoliosis HP:0001156 ORPHA:2956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2956 Acrodysplasia scoliosis HP:0002650 ORPHA:2956 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2956 Acrodysplasia scoliosis HP:0003298 ORPHA:2956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2956 Acrodysplasia scoliosis HP:0003422 ORPHA:2956 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000219 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000252 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000341 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000426 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000455 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001263 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001319 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001999 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0002465 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0010864 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000286 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000308 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000368 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000486 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000508 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001250 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001357 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001363 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001510 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001629 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001631 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001643 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0002020 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0002643 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0002714 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0003552 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0004322 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0011968 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0100704 ORPHA:457193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000028 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000126 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000175 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000648 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001156 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001332 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0001601 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0002566 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0004467 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0007678 ORPHA:457193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000023 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000028 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000278 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000286 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000316 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000348 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000369 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000448 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000486 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000508 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000639 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000939 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0001098 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0001249 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0001290 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0001776 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0002059 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0002673 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0005815 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0010499 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0010781 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0011064 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0040019 ORPHA:2958 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001596 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001620 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002020 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002136 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002162 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002360 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002721 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002828 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002910 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0003401 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0003808 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0004322 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0005115 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0005320 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0005328 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0004429 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0005403 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0007481 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0007495 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0008209 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0008214 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0040171 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0009882 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0010536 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0010663 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0025124 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0100543 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0100785 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001256 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000047 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000054 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000193 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000252 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000320 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000347 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000408 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000518 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000529 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000585 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000668 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000689 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000815 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000823 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000831 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000938 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001156 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001397 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001518 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001592 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001270 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0001935 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002572 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002664 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002894 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0002943 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0040160 ORPHA:2959 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:243343 Dimethylglycine dehydrogenase deficiency HP:0001939 ORPHA:243343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:243343 Dimethylglycine dehydrogenase deficiency HP:0003236 ORPHA:243343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:243343 Dimethylglycine dehydrogenase deficiency HP:0003750 ORPHA:243343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:243343 Dimethylglycine dehydrogenase deficiency HP:0012379 ORPHA:243343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:243343 Dimethylglycine dehydrogenase deficiency HP:0410020 ORPHA:243343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0000157 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0000175 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0000154 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0000244 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0000252 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0000278 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0000316 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0000365 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0000470 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0000742 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0001263 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0001274 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0004322 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0001561 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0002061 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0002084 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0002418 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0002580 ORPHA:314621 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0002679 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0002943 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0003310 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0003319 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0004325 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0007036 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0010864 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0007642 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0009792 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0100872 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0011069 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0011729 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0012286 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0012503 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:0011800 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314621 Duplication of the pituitary gland HP:3000005 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002359 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002376 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002415 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002922 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0004343 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0012433 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0030081 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000649 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000712 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000738 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000746 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001082 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001250 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001257 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002080 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002371 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0003270 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0003444 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0003487 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001939 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0007133 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0007240 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0007272 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0007663 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0008619 ORPHA:309263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0025013 ORPHA:309263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0031358 ORPHA:309263 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000020 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000648 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000736 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0000762 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001260 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001265 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001290 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001324 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0001332 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309263 Metachromatic leukodystrophy, juvenile form HP:0002312 ORPHA:309263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0001324 ORPHA:2942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0012531 ORPHA:2942 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0002829 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0003326 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0003551 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0011446 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0012378 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0100786 ORPHA:2942 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0001260 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0001367 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0002015 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0002093 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0002360 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0002380 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0003202 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0003394 ORPHA:2942 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2942 Postpoliomyelitis syndrome HP:0002791 ORPHA:2942 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:48918 Focal myositis HP:0001324 ORPHA:48918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48918 Focal myositis HP:0001376 ORPHA:48918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48918 Focal myositis HP:0001824 ORPHA:48918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48918 Focal myositis HP:0001945 ORPHA:48918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48918 Focal myositis HP:0003236 ORPHA:48918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48918 Focal myositis HP:0003326 ORPHA:48918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48918 Focal myositis HP:0100614 ORPHA:48918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000175 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000190 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000274 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000316 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000322 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000368 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000470 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000494 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000525 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000568 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000589 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000518 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000708 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0000729 ORPHA:1617 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0001263 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0001188 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0001249 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0001250 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0001319 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0001510 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0001508 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0001518 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0001770 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0002871 ORPHA:1617 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0010078 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0011344 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0100490 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1617 2q24 microdeletion syndrome HP:0100807 ORPHA:1617 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0000238 ORPHA:163596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0000980 ORPHA:163596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0001561 ORPHA:163596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0001562 ORPHA:163596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0001635 ORPHA:163596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0001701 ORPHA:163596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0001744 ORPHA:163596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0001789 ORPHA:163596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0001903 ORPHA:163596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0002240 ORPHA:163596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:163596 Hb Bart's hydrops fetalis HP:0011902 ORPHA:163596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2940 Porencephaly HP:0001249 ORPHA:2940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2940 Porencephaly HP:0001250 ORPHA:2940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2940 Porencephaly HP:0001257 ORPHA:2940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2940 Porencephaly HP:0002119 ORPHA:2940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2940 Porencephaly HP:0002132 ORPHA:2940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2940 Porencephaly HP:0004374 ORPHA:2940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2940 Porencephaly HP:0100021 ORPHA:2940 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2940 Porencephaly HP:0100022 ORPHA:2940 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0003755 ORPHA:596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0030917 ORPHA:596 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0000478 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0001319 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0001558 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0001561 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0001622 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0002033 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0002090 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0002098 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0002205 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0003687 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0004887 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0006829 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0008872 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0030192 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0030195 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0030319 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0031238 ORPHA:596 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0000218 ORPHA:596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0000268 ORPHA:596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0000276 ORPHA:596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0001999 ORPHA:596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:596 X-linked centronuclear myopathy HP:0002540 ORPHA:596 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0003198 ORPHA:598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0003741 ORPHA:598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0003789 ORPHA:598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0000486 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0001290 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0001387 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0001508 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0002093 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0002650 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0002747 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0003306 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0003457 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0004303 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0004322 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0005692 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0008994 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0008997 ORPHA:598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0000544 ORPHA:598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0002047 ORPHA:598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0002460 ORPHA:598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:598 Multiminicore myopathy HP:0002804 ORPHA:598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0001252 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0001270 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0001374 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0001388 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0001634 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0001762 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0001763 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0002047 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0002751 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0002828 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0003198 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0003388 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0003552 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0003749 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0003803 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0030230 ORPHA:597 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0000602 ORPHA:597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0002483 ORPHA:597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0003798 ORPHA:597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0040081 ORPHA:597 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0001989 ORPHA:597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0002643 ORPHA:597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0002747 ORPHA:597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0003236 ORPHA:597 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:597 Central core disease HP:0040191 ORPHA:597 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:592 Macrophagic myofasciitis HP:0001945 ORPHA:592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:592 Macrophagic myofasciitis HP:0002829 ORPHA:592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:592 Macrophagic myofasciitis HP:0003324 ORPHA:592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:592 Macrophagic myofasciitis HP:0003326 ORPHA:592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:592 Macrophagic myofasciitis HP:0003457 ORPHA:592 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:592 Macrophagic myofasciitis HP:0012378 ORPHA:592 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0000221 ORPHA:2928 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0000762 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001156 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001249 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001288 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001315 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001324 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0001956 ORPHA:2928 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0002644 ORPHA:2928 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0002983 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0003457 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0004322 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0009465 ORPHA:2928 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0011675 ORPHA:2928 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0100490 ORPHA:2928 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0008209 ORPHA:2928 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0005266 ORPHA:2929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0012198 ORPHA:2929 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0100896 ORPHA:2929 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0004784 ORPHA:2929 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0004795 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002573 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0001903 ORPHA:2929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002027 ORPHA:2929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002576 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002014 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0100822 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0001510 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0000969 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002239 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0012432 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002243 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0000256 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0001012 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0010797 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0001999 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002003 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0000316 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0000494 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0005280 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0000369 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0000160 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0000331 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0001256 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0004406 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0100579 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0100761 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002326 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0030049 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0004941 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002092 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0003003 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0012126 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002894 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0100833 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0004390 ORPHA:2929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0030256 ORPHA:2929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0001508 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0012050 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0003075 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0000421 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0100026 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0100759 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0006548 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0006574 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0002408 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0040231 ORPHA:2929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2929 Juvenile polyposis syndrome HP:0007378 ORPHA:2929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000467 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000508 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002015 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002033 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002882 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0003473 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0003701 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0004661 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0004889 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0011968 ORPHA:590 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000602 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000961 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001249 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001251 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001283 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001558 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001611 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002205 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002355 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002804 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002872 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0003324 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0003388 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0004885 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0008443 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0010536 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0011469 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0030842 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0100285 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0100295 ORPHA:590 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000218 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000276 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001250 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001270 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001284 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001612 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001618 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001761 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002421 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002515 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002751 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0003306 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0003325 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0003458 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0003693 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0009053 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0010307 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001252 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0012801 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0030051 ORPHA:590 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000308 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000369 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000407 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000565 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000639 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000651 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0000768 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001265 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001374 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001388 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0001561 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002020 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002392 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0002870 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0005943 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0007178 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0025401 ORPHA:590 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:590 Congenital myasthenic syndrome HP:0030208 ORPHA:590 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002748 ORPHA:289157 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002901 ORPHA:289157 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0012052 ORPHA:289157 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000867 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000886 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000897 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000920 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001270 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001281 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001324 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001508 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002148 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002653 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002659 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002663 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002749 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002752 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002753 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002909 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002970 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002980 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002982 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0003020 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0003029 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0003106 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0003165 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0005042 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0005469 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0008897 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0010537 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0010639 ORPHA:289157 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001290 ORPHA:289157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002007 ORPHA:289157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002355 ORPHA:289157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0004322 ORPHA:289157 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000684 ORPHA:289157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0000737 ORPHA:289157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0001538 ORPHA:289157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0002199 ORPHA:289157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289157 Hypocalcemic vitamin D-dependent rickets HP:0006297 ORPHA:289157 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0000762 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0001284 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0002317 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0003401 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0003474 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0003481 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0009830 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0010871 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0011096 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0012078 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0030200 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0040129 ORPHA:2932 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0002355 ORPHA:2932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0002527 ORPHA:2932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0003551 ORPHA:2932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0030237 ORPHA:2932 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy HP:0010833 ORPHA:2932 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464318 Verrucous hemangioma HP:0001028 ORPHA:464318 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:464318 Verrucous hemangioma HP:0011123 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464318 Verrucous hemangioma HP:0011356 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464318 Verrucous hemangioma HP:0012740 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464318 Verrucous hemangioma HP:0025092 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464318 Verrucous hemangioma HP:0045059 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464318 Verrucous hemangioma HP:0200035 ORPHA:464318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0000288 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0000356 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0000364 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0000486 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0000582 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0001162 ORPHA:2935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0005280 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0006101 ORPHA:2935 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0007477 ORPHA:2935 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0008736 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2935 Crossed polysyndactyly HP:0009601 ORPHA:2935 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000028 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000047 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000055 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000077 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000107 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000126 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000135 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000160 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000248 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000252 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000270 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000286 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000307 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000343 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000368 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000405 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000407 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000431 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000457 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000464 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000486 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000490 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000504 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000505 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000518 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000534 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000639 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000648 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000708 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000717 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000733 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000750 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000821 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000878 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000892 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0000902 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001009 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001107 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001156 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001249 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001250 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001252 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001263 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001274 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001288 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001344 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001385 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001387 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001392 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001397 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001508 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001513 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001636 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001643 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001644 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001654 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001671 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001734 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001743 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001773 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0001829 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002007 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002015 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002019 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002020 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002021 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002119 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002120 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002167 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002230 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002242 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002353 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002465 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0030680 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002591 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002650 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002715 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0002808 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0003006 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0003198 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0003416 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0004209 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0004322 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0004374 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0004378 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0005113 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0005280 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0006824 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0008066 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0008499 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0008551 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0008736 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0008872 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0011228 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0011800 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0012733 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0100490 ORPHA:1606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0100559 ORPHA:1606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1606 1p36 deletion syndrome HP:0100716 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0001324 ORPHA:589 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0000508 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0000597 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0000651 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0000777 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0001260 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0001283 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0002015 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0002094 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0030006 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0030208 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0030210 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0100614 ORPHA:589 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0000365 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0000836 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0000872 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0001370 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0002725 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0003076 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0003401 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0008207 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0010780 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0030880 ORPHA:589 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0000709 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0001063 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0001250 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0001878 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0012115 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:589 Myasthenia gravis HP:0012410 ORPHA:589 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0000238 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0000486 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0000501 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0000505 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0000518 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0000545 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0000648 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0001250 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0001252 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0001276 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0001288 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0001360 ORPHA:588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0001608 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0002167 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0002353 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0002435 ORPHA:588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0003198 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0003236 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0003457 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0004374 ORPHA:588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0007360 ORPHA:588 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0100022 ORPHA:588 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:588 Muscle-eye-brain disease HP:0100543 ORPHA:588 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000252 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000708 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000750 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001249 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001263 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001999 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0011968 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000504 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000729 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000733 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000739 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001250 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001270 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001288 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001344 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001508 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001511 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001518 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002119 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002120 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0003561 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0009121 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0410263 ORPHA:464311 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000341 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000411 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000426 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000483 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000486 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000490 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000540 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000543 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000545 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000577 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000646 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000767 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001182 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001773 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001831 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002013 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002020 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002079 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002363 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002650 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002719 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002808 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0003319 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0006466 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0007018 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0007957 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0011171 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0011757 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0012785 ORPHA:464311 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000028 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000047 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000054 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000107 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000122 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000125 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000126 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000541 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001561 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001562 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001629 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001643 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001650 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0001659 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002247 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0002269 ORPHA:464311 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0000221 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0000224 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0000256 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0000518 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0001000 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0001004 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0001182 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0001231 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0001250 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0001596 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0001744 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0001800 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0001810 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0001903 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0002014 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0002024 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0002027 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0002039 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0002231 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0002232 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0002240 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0002597 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0002664 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0002672 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0003003 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0004326 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0004390 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0007440 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0008391 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0012126 ORPHA:2930 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0012378 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0100840 ORPHA:2930 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2930 Cronkhite-Canada syndrome HP:0200008 ORPHA:2930 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0005148 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0005280 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0007204 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0008240 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0008513 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0008689 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0012447 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000154 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000194 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000218 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000238 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000252 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000286 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000294 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000322 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000407 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000414 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000448 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000452 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000486 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000494 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000767 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000821 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001250 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001266 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001321 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001382 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001508 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001533 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001635 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001650 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001653 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001684 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0004942 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0002720 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0004422 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0005134 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0005164 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0011596 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0012382 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0012471 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0003413 ORPHA:1600 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0009592 ORPHA:1600 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000054 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000303 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000400 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000479 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0000545 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001018 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001166 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001182 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001249 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001256 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001263 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001319 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001510 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001643 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001762 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001763 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0001999 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0002370 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0002714 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0002750 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0002751 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1600 Monosomy 18q HP:0004322 ORPHA:1600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000238 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000252 ORPHA:585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000256 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000280 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000319 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000407 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000463 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000505 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000518 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000574 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0000648 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0001249 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0001250 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0001263 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0001319 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0001387 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0001744 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0002208 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0002240 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0002376 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0003134 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0004322 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0005280 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0007307 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0007703 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0007957 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0008064 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0008155 ORPHA:585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0010059 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:585 Multiple sulfatase deficiency HP:0011304 ORPHA:585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0000023 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0000280 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0000470 ORPHA:584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0001004 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0001249 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0001252 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0001387 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0001537 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0001541 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0001744 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0001789 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0001840 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0002103 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0002205 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0002650 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0003272 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0004607 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0005019 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0007957 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0008155 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0008430 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0010655 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0012115 ORPHA:584 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0012368 ORPHA:584 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0100026 ORPHA:584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:584 Mucopolysaccharidosis type 7 HP:0100625 ORPHA:584 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome HP:0000982 ORPHA:281201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome HP:0008064 ORPHA:281201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0002896 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0003002 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0003003 ORPHA:587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0004377 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0006753 ORPHA:587 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0006758 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0008069 ORPHA:587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0009720 ORPHA:587 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0009726 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0012114 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0012118 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:587 Muir-Torre syndrome HP:0100684 ORPHA:587 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0001738 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002024 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002110 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002205 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0006536 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0012236 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0012873 ORPHA:586 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0001508 ORPHA:586 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0000246 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0000716 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0000739 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0000938 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0001392 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002020 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002035 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002099 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002570 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002724 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002726 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002910 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0004401 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0005376 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0032342 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0045082 ORPHA:586 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0000365 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0000787 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0000939 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0001394 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002105 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002107 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0002842 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0032261 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:586 Cystic fibrosis HP:0100582 ORPHA:586 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000023 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000365 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000389 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000518 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000545 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000772 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000889 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001250 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001251 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001276 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001385 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001387 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001537 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001604 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001744 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002024 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002208 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002230 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002240 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002360 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002376 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002650 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002857 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0003312 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0004493 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0006887 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0007957 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0008155 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0010864 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001646 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001999 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001633 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001637 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0007256 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0025160 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0011842 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000164 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0004452 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000718 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0011951 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001678 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0005743 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000618 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001640 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0007009 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000405 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002019 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0012185 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000750 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000726 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000734 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000268 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001260 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000943 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002015 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0030195 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001371 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001288 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002159 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001007 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000238 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0006801 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000752 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000710 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0030214 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002659 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001249 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000256 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000158 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000410 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001270 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002870 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0007759 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000648 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000388 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000580 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002505 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002344 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001538 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0005425 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0004349 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0012664 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0011947 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000546 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000510 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000407 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001328 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000664 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0100874 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0009928 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0012471 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000391 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0031458 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000708 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0410263 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000280 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001133 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0030838 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002254 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0100512 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0000662 ORPHA:581 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0001257 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0011110 ORPHA:581 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002781 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0003541 ORPHA:581 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:581 Mucopolysaccharidosis type 3 HP:0002119 ORPHA:581 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001249 ORPHA:496790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001263 ORPHA:496790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0008936 ORPHA:496790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001257 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002064 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002151 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002465 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0003477 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0007210 ORPHA:496790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000028 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000276 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000303 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000347 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000348 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000490 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000518 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000545 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000565 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000582 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000609 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000639 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000648 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000768 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0000823 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001272 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001385 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001639 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002066 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002360 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0002650 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0003196 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0003535 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0005656 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0011968 ORPHA:496790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001250 ORPHA:496790 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0007957 ORPHA:496790 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000256 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000280 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001376 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001626 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001627 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0004322 ORPHA:580 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000023 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000158 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000212 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000293 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000405 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000407 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000488 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000546 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000708 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000736 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000762 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000943 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001268 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001510 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001537 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001609 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001654 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001744 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0002028 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0002240 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0002344 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0002360 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0002376 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0002788 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0004582 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0005781 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0006979 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0007994 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0010535 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0012471 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0030044 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0030812 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0100543 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0410018 ORPHA:580 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000336 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000362 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000431 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000445 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000493 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000648 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000662 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000752 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001085 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001263 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001334 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001385 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001633 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001638 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001641 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001679 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001702 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0002176 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0002781 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0003552 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0007703 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0007957 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0008843 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0010656 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0012185 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0012478 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0030466 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0031416 ORPHA:580 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000718 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000733 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0000822 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001129 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0001250 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0004950 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0010865 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0011675 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0025160 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:580 Mucopolysaccharidosis type 2 HP:0100710 ORPHA:580 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0000158 ORPHA:583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0000179 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0000246 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0000280 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0000365 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0000389 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0000470 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0000505 ORPHA:583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0000885 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0000944 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0001387 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0001508 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0001654 ORPHA:583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0001744 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0030680 ORPHA:583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0002656 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0002788 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0002808 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0002857 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0003300 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0003521 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0007759 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0008155 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0009928 ORPHA:583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0100543 ORPHA:583 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:583 Mucopolysaccharidosis type 6 HP:0100790 ORPHA:583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000154 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000164 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000256 ORPHA:582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000280 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000365 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000463 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000470 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000670 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000683 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000768 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000772 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000926 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000944 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0001288 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0001373 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0001654 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0002650 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0002673 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0002750 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0002808 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0002857 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0003416 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0004322 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0004349 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0005692 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0005930 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0006487 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0007957 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0000682 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0003307 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0008155 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0010306 ORPHA:582 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0100543 ORPHA:582 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:582 Mucopolysaccharidosis type 4 HP:0100790 ORPHA:582 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2917 Polydactyly-myopia syndrome HP:0000545 ORPHA:2917 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2917 Polydactyly-myopia syndrome HP:0001162 ORPHA:2917 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2917 Polydactyly-myopia syndrome HP:0000023 ORPHA:2917 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2917 Polydactyly-myopia syndrome HP:0000028 ORPHA:2917 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2917 Polydactyly-myopia syndrome HP:0100541 ORPHA:2917 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0000010 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0000246 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0000389 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0001367 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0001369 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0001376 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0001482 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0001701 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0001744 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0001824 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0001873 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0001875 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0001903 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002102 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002205 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002206 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002240 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002665 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002716 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002719 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002721 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002797 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002829 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0002960 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0004332 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0005528 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0006532 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0007400 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0007440 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0009830 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0012384 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0100534 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0100658 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0100769 ORPHA:47612 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0100776 ORPHA:47612 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:47612 Felty syndrome HP:0100806 ORPHA:47612 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0002251 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0002650 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0002705 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0004736 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0005817 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0006297 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0010441 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0010800 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0011069 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0012738 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0100335 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000161 ORPHA:2919 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0001162 ORPHA:2919 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0001830 ORPHA:2919 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000191 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000288 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000316 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0001249 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0002007 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0010297 ORPHA:2919 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000185 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000190 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000193 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000252 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000668 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0001274 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0001636 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000175 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000233 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000303 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000322 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000363 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000402 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000405 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000431 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000445 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000677 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000932 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0001263 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0001320 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0001792 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0001833 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0001852 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0002714 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0004470 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0009882 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0010743 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0011039 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0011220 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0011800 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0012745 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0045025 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0410030 ORPHA:217017 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0000369 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0001249 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0001627 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0001631 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0004451 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0008551 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0012704 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217017 Zechi-Ceide syndrome HP:0100874 ORPHA:217017 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0001162 ORPHA:2920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0002187 ORPHA:2920 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0000303 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0001344 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0001830 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0001831 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0002069 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0002465 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0010554 ORPHA:2920 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0000218 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0000252 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0000322 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0000385 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0000387 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0000574 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0000689 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0001212 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0001511 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0001812 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0002558 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0002650 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0002987 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0004209 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0006380 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2920 Oliver syndrome HP:0100490 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0000480 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0000567 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0001249 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0001263 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0000612 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0100258 ORPHA:2921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0000486 ORPHA:2921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0001141 ORPHA:2921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0012109 ORPHA:2921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0030515 ORPHA:2921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000252 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000750 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001249 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001263 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001288 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001999 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0003086 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0011968 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000505 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000708 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000729 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000733 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000739 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001250 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001508 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001511 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001518 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002119 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002373 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002465 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0011451 ORPHA:464306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000028 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000341 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000400 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000411 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000426 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000483 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000486 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000490 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000540 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000543 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000545 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000577 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000646 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000752 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001166 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001659 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001770 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002013 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002020 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002079 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002120 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002365 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002719 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002828 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0004209 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0007957 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0010442 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0010627 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0010864 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0011832 ORPHA:464306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000047 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000054 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000107 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000122 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000125 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000126 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000767 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000964 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001562 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001629 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001643 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001650 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0001822 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002021 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002247 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002280 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002650 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0002808 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0003187 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0003319 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0004322 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0010219 ORPHA:464306 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0001732 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0002020 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0002027 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0002086 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0002093 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0002239 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0002240 ORPHA:2924 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0002617 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0003270 ORPHA:2924 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0003418 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0003573 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0005562 ORPHA:2924 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0006557 ORPHA:2924 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2924 Isolated polycystic liver disease HP:0008872 ORPHA:2924 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0001460 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0003202 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0003560 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0007328 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0040129 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0100490 ORPHA:2926 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0000966 ORPHA:2926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0002046 ORPHA:2926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2926 Digital extensor muscle aplasia-polyneuropathy HP:0004370 ORPHA:2926 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001260 ORPHA:217012 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001272 ORPHA:217012 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0002066 ORPHA:217012 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0000639 ORPHA:217012 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001265 ORPHA:217012 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0000365 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001257 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001337 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0001347 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0002495 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:217012 Spinocerebellar ataxia type 31 HP:0006801 ORPHA:217012 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0001647 ORPHA:402075 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0001650 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0001659 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0001680 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0004380 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0004962 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0030148 ORPHA:402075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0000822 ORPHA:402075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0005113 ORPHA:402075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0004383 ORPHA:402075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0004933 ORPHA:402075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:402075 Familial bicuspid aortic valve HP:0011103 ORPHA:402075 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001263 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001999 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0008551 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0008872 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0008947 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0012385 ORPHA:314679 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000089 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000239 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000347 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000405 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000938 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001159 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0002342 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0002778 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0011471 ORPHA:314679 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000047 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000160 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000252 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000286 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000316 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000327 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000431 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000581 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001004 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001251 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001274 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001320 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001545 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001627 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001642 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0001762 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0002025 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0002079 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0002119 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0002282 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0002779 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0002825 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0004322 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0006989 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0008197 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0010864 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0040079 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0100716 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0200138 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000232 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000252 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000280 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000486 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000488 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000512 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000613 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000639 ORPHA:578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000691 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000708 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0000982 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0001249 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0001251 ORPHA:578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0001252 ORPHA:578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0001288 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0001344 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0001347 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0002353 ORPHA:578 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0002816 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0004345 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0004422 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0005105 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0007281 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0007703 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0007957 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0010318 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:578 Mucolipidosis type IV HP:0011020 ORPHA:578 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0000023 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0000175 ORPHA:577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0000269 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0000280 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0000364 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0000505 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0001061 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0001387 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0001646 ORPHA:577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0001654 ORPHA:577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0001999 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0030680 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0003272 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0003307 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0003312 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0004322 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0004349 ORPHA:577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0004493 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0007957 ORPHA:577 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0008818 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0008821 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0012378 ORPHA:577 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:577 Mucolipidosis type III HP:0100543 ORPHA:577 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000175 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000347 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000774 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0002781 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0002983 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0008905 ORPHA:440354 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000162 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000407 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000520 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000882 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000947 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0001156 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0001622 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0002007 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0002980 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0003016 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0003097 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0011003 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0011800 ORPHA:440354 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000023 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000179 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000212 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000232 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000238 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000246 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000256 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000268 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000271 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000280 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000293 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000294 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000365 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000389 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000407 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000488 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000501 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000505 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000648 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000687 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000691 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0000944 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0001171 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0001249 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0001373 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0001387 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0001608 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0001635 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0001639 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0001646 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0001654 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0001744 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0002024 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0002104 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0002205 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0002230 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0002376 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0002650 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0002829 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0003272 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0003312 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0003401 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0003416 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0004322 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0004374 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0005105 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0005280 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0005930 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0007957 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0008155 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0009928 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0010885 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0012735 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0100261 ORPHA:579 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0100625 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0100765 ORPHA:579 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:579 Mucopolysaccharidosis type 1 HP:0100790 ORPHA:579 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000091 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000160 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000164 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000211 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000217 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000225 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000230 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000262 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000365 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000656 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000772 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000795 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000924 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000929 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000963 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000964 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0000972 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0001025 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0001053 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0001096 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0005916 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0001810 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0002745 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0002860 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0003272 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0004322 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0005692 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0006101 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0006323 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0006740 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0007400 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0007759 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0008064 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0008066 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0008391 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0008404 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0010296 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0010783 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0010807 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0011024 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0100490 ORPHA:2907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0100585 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0100587 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0100669 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0200034 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0200039 ORPHA:2907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2907 Hereditary acrokeratotic poikiloderma HP:0200042 ORPHA:2907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000230 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000262 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000509 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000656 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000670 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000682 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000704 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000772 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000929 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000962 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000982 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000987 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0000992 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0001000 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0001029 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0001056 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0001371 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0001581 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0001602 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0001741 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0001903 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0002015 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0002037 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0002043 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0002583 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0002860 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0004378 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0006101 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0006323 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0007957 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0008065 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0008066 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0008388 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0010044 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0010047 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0010783 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0012227 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0100490 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0100517 ORPHA:2908 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0100633 ORPHA:2908 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2908 Kindler epidermolysis bullosa HP:0100825 ORPHA:2908 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000988 ORPHA:2909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001029 ORPHA:2909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0025300 ORPHA:2909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000164 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000653 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000789 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000924 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001518 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0004322 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0004349 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0007556 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0007588 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0008066 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0008070 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0010765 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0045075 ORPHA:2909 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000282 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000670 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000682 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000684 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000685 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000691 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0000938 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001010 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001118 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001592 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001597 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001792 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001871 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0002013 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0002014 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0002164 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0002659 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0003022 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0003993 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0006498 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0006501 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0008065 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0008069 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0009778 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0011069 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0031367 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0100585 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0100671 ORPHA:2909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001875 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001903 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001909 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0001915 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0002671 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0002860 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0002861 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0002863 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0003761 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0007418 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0011470 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2909 Rothmund-Thomson syndrome HP:0200044 ORPHA:2909 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0004912 ORPHA:289176 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0000117 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0000407 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0000684 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0001510 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002652 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002653 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002749 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002812 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002814 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002970 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0003020 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0003109 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0004322 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0004576 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0005096 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0005764 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0006463 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0008732 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0010639 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0011001 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0011036 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0012052 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100511 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100559 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100671 ORPHA:289176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0001363 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002024 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0002982 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0003416 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0030757 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100036 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100686 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0100781 ORPHA:289176 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0001250 ORPHA:289176 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0001324 ORPHA:289176 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:289176 Autosomal recessive hypophosphatemic rickets HP:0003472 ORPHA:289176 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0001555 ORPHA:2911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0006709 ORPHA:2911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0007485 ORPHA:2911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0009751 ORPHA:2911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0010311 ORPHA:2911 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000089 ORPHA:2911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0001155 ORPHA:2911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0006008 ORPHA:2911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0009700 ORPHA:2911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0200055 ORPHA:2911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000028 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000047 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000070 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000076 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000081 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000252 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000356 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000470 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000545 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000766 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000768 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000772 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000773 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000776 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000819 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000912 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0000921 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0001156 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0001161 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0001171 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0001392 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0001631 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0001651 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0002084 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0002162 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0002488 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0002650 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0002808 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0002814 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0002937 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0040071 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0003063 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0003298 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0003422 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0004050 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0004349 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0006101 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0006501 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0006714 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0007477 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0008678 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0009594 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0009601 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0010579 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2911 Poland syndrome HP:0100013 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0001324 ORPHA:2912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0012531 ORPHA:2912 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0001284 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0001287 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0001348 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0001945 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002013 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002018 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002039 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002315 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002829 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0003202 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0003326 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0003470 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0003546 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0004302 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0007340 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0009004 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0010547 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0011805 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0012378 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0012486 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0025258 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0025439 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0031469 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0040131 ORPHA:2912 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0001283 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0001618 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002015 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002374 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002380 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002385 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002483 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002487 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002540 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002590 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002721 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002878 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0003401 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0003484 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0004887 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0006824 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0030196 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0030813 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0031058 ORPHA:2912 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0000713 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0000737 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0000822 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0001259 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0001289 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002383 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0002615 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2912 Poliomyelitis HP:0031274 ORPHA:2912 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000175 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000286 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000303 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000474 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000632 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000668 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000682 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0001156 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0001162 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0001347 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0001357 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0001572 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002162 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0030680 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002650 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002808 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002937 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002948 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0002999 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0003042 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0003312 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0004209 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0004322 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0005988 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0008479 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0009738 ORPHA:2916 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0009906 ORPHA:2916 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0010935 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0100672 ORPHA:2916 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000086 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000202 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000238 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000316 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000347 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000365 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000413 ORPHA:268249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000567 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000568 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000572 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000612 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000625 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0000776 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001256 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001274 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001629 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001680 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001789 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001800 ORPHA:268249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0001829 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0002006 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0002575 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0002779 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0004279 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0008437 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0008551 ORPHA:268249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0009892 ORPHA:268249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268249 Mycophenolate mofetil embryopathy HP:0011803 ORPHA:268249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000010 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000075 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000093 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000175 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000204 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000465 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000508 ORPHA:33001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000509 ORPHA:33001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000518 ORPHA:33001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000613 ORPHA:33001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000656 ORPHA:33001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0000819 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0001324 ORPHA:33001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0001581 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0001643 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0001970 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0030680 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0002619 ORPHA:33001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0003550 ORPHA:33001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0004930 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0009743 ORPHA:33001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0009745 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0011675 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0100244 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0100820 ORPHA:33001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33001 Lymphedema-distichiasis syndrome HP:0200020 ORPHA:33001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000708 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001249 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001256 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001263 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001270 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001999 ORPHA:466950 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000321 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000486 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000504 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000739 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000750 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001319 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002019 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002086 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002360 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0007018 ORPHA:466950 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000125 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000154 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000219 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000286 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000316 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000337 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000358 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000365 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000395 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000414 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000431 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000455 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000490 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000539 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000572 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000574 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000637 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000664 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000718 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000729 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000954 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001007 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001156 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001212 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001260 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001344 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001513 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001763 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0001956 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002015 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002020 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002069 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002099 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002119 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002205 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0002793 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0003186 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0004279 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0005280 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0005288 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0008081 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0009794 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0011147 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0011171 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0011220 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0011822 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0012076 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0012704 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0040288 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0100581 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0100702 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0100716 ORPHA:466950 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35664 ALDH18A1-related De Barsy syndrome HP:0000518 ORPHA:35664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35664 ALDH18A1-related De Barsy syndrome HP:0000974 ORPHA:35664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35664 ALDH18A1-related De Barsy syndrome HP:0001249 ORPHA:35664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35664 ALDH18A1-related De Barsy syndrome HP:0001263 ORPHA:35664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35664 ALDH18A1-related De Barsy syndrome HP:0005692 ORPHA:35664 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000708 ORPHA:261197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000729 ORPHA:261197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001263 ORPHA:261197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000256 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000750 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001249 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001256 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001270 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001328 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0006863 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0007018 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0009088 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0011351 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0410263 ORPHA:261197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000316 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000337 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000347 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000405 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000407 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000717 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000733 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000735 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001250 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001266 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001332 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001508 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001513 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001627 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001631 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001646 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001999 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002020 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002119 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002280 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002650 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002691 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0003468 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0007099 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0007166 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0011098 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0011800 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0011968 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0100702 ORPHA:261197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000003 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000175 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000776 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0000902 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001161 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001363 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0001651 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0002021 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261197 Proximal 16p11.2 microdeletion syndrome HP:0003396 ORPHA:261197 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0003510 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0005930 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0011304 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0100490 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0100679 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0000581 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0001482 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0002650 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0002967 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0012745 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0100795 ORPHA:2900 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0000486 ORPHA:2900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0003042 ORPHA:2900 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0000582 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0000944 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0001072 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0001156 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0005916 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0001167 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0001288 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0001387 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0002816 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2900 Leri pleonosteosis HP:0003312 ORPHA:2900 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0000160 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0000175 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0000311 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0000912 ORPHA:2901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0001063 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0001271 ORPHA:2901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0001324 ORPHA:2901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0002093 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0002167 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0002829 ORPHA:2901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0002360 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0003401 ORPHA:2901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0003457 ORPHA:2901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0003691 ORPHA:2901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0004322 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2901 Neuralgic amyotrophy HP:0009830 ORPHA:2901 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000023 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000164 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000175 ORPHA:261190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000252 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000276 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000307 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000319 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000322 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000341 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000343 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000369 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000426 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000444 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000490 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000717 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0001061 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0001249 ORPHA:261190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0001250 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0001263 ORPHA:261190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0001601 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0001631 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0002650 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0002721 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0002808 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0004322 ORPHA:261190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0004422 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0000750 ORPHA:261190 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261190 15q14 microdeletion syndrome HP:0001629 ORPHA:261190 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0031983 ORPHA:2902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0032177 ORPHA:2902 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0001047 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0001974 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002091 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002094 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002099 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002960 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0003212 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0003565 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0006516 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0011227 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0012418 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0030828 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0030830 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0031246 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0032017 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0032061 ORPHA:2902 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0001824 ORPHA:2902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0001945 ORPHA:2902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002829 ORPHA:2902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0025406 ORPHA:2902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0030166 ORPHA:2902 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0002202 ORPHA:2902 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0011024 ORPHA:2902 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0011354 ORPHA:2902 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2902 Idiopathic chronic eosinophilic pneumonia HP:0100750 ORPHA:2902 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2903 Familial spontaneous pneumothorax HP:0002086 ORPHA:2903 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2903 Familial spontaneous pneumothorax HP:0002103 ORPHA:2903 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2903 Familial spontaneous pneumothorax HP:0002107 ORPHA:2903 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001271 ORPHA:2905 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0000135 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0000818 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0003271 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0005523 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0010702 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0011122 ORPHA:2905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0000771 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0000819 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0000821 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0000953 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0000969 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0000998 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001028 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001072 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001085 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001284 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001324 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001541 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001698 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001820 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001824 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001894 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0002092 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0002202 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0002694 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0002716 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0003401 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0004054 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0004576 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0004979 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0008207 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0012378 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0012531 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0100639 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0100759 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0100925 ORPHA:2905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0000870 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001063 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0001901 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0002091 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0002747 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0004420 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0004936 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0009125 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2905 POEMS syndrome HP:0100963 ORPHA:2905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002720 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002721 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0004315 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0004322 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0006254 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0010997 ORPHA:420741 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0001328 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0001954 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0001999 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002090 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0006532 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0011108 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0011109 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0012387 ORPHA:420741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0000252 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0000388 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0000524 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0000712 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0001009 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0001251 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0001263 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0001288 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0001369 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0001824 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002014 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002027 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002091 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002206 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002312 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002315 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002500 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002850 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0002878 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0004429 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0006530 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0007057 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0007108 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0008940 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0010677 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0010783 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0012768 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0030746 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420741 RIDDLE syndrome HP:0040189 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000708 ORPHA:466943 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001249 ORPHA:466943 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001263 ORPHA:466943 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001999 ORPHA:466943 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0008947 ORPHA:466943 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000321 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000356 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000486 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000504 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000739 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000750 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001250 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001344 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002019 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002194 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002360 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002579 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0007018 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0010862 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0011968 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0030190 ORPHA:466943 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000154 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000219 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000286 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000316 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000358 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000395 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000414 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000431 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000455 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000483 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000490 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000545 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000637 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000664 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000718 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000729 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001156 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001260 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001513 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002015 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002020 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002099 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002119 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002342 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002370 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002714 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002719 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0003186 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0005280 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0006889 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0011220 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0011822 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0012704 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0030863 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0040288 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0100704 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0100716 ORPHA:466943 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000125 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000405 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000407 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000954 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0001763 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002069 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002121 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0002373 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0004279 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0008081 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0100581 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0100702 ORPHA:466943 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0001917 ORPHA:314652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0012185 ORPHA:314652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0012622 ORPHA:314652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0000157 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0002176 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0002756 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0003365 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0005244 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0007141 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0010286 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0011805 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0011915 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0012065 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0012280 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0012309 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0012332 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0012664 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0025015 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0030834 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0030836 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0030839 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0030843 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0031368 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314652 Variant ABeta2M amyloidosis HP:0100292 ORPHA:314652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000218 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000341 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000347 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000506 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000508 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000750 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0001270 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0001319 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0002002 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0002098 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0002353 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0005280 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0005338 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0005487 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0008872 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0010804 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0010864 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0012444 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0012448 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0410263 ORPHA:314655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000369 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000463 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000494 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0001250 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0001336 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0001627 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0002104 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0002791 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0003196 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0006532 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0006829 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0010442 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0011097 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0011098 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0011167 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0011951 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0025190 ORPHA:314655 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0001952 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0003074 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0003076 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0004924 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0030794 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0040214 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0040216 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0040217 ORPHA:552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0000112 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0000488 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0000825 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0000831 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0001511 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0001520 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0001998 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0008255 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0025502 ORPHA:552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0000077 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0000107 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0000119 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0001513 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0001738 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0002594 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0012028 ORPHA:552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0000956 ORPHA:552 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0001953 ORPHA:552 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:552 MODY HP:0030057 ORPHA:552 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0000407 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0000648 ORPHA:551 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0001012 ORPHA:551 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0001251 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0002123 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0003198 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0003200 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0003457 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0004322 ORPHA:551 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0100022 ORPHA:551 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:551 MERRF HP:0100543 ORPHA:551 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0012378 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000365 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000505 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000518 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000716 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000739 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001952 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001251 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001254 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001260 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001265 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001272 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001288 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001290 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001337 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001349 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001508 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001644 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001712 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002015 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002019 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002020 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002063 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002066 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002071 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002093 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002151 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002359 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002375 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002396 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002578 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002875 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003236 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003326 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000508 ORPHA:254892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000544 ORPHA:254892 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000338 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000496 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000597 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000602 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002067 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002322 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003198 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003200 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003458 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003546 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003547 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003688 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003690 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003731 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003737 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0010628 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0012103 ORPHA:254892 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003388 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003477 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003551 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0004308 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0005110 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0007042 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0009830 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0011675 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0012664 ORPHA:254892 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000017 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000819 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000821 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000836 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000853 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000939 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0000969 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001250 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001276 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001392 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001946 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0001962 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002076 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0002910 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003394 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0003438 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0007302 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0100543 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia HP:0100704 ORPHA:254892 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001249 ORPHA:508498 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000219 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000308 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000343 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000365 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000431 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000470 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000589 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000998 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001155 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002761 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0004322 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0011842 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0011968 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0030680 ORPHA:508498 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000047 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000085 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000089 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000104 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000125 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000252 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000303 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000347 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000480 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000486 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000540 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000545 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000565 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000568 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000609 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000612 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000646 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000729 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000733 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000767 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000974 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001052 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001177 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001274 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001629 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001636 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001647 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001659 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001660 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001680 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001738 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001763 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001845 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002079 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002119 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002360 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002414 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002827 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002942 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002943 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0002949 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0003835 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0004209 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0004279 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0004691 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0005620 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0006009 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0006695 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0006712 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0006970 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0007687 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0007874 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0008467 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0009237 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0009997 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0010055 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0010628 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0011304 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0011682 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0012487 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0012745 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0012795 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0025481 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000726 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001250 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001324 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002076 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002151 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002353 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002381 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002401 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0003128 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0003200 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0008316 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0012429 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0012766 ORPHA:550 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000407 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000572 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000709 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000716 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000736 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000739 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000819 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001251 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001269 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001288 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001298 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001328 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001336 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002013 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002069 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002135 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002331 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002354 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002490 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002922 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0003198 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0004322 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0007159 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0007359 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0009830 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0010794 ORPHA:550 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000093 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000097 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000112 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000114 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000580 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000590 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000648 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000751 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000998 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001045 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001263 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001270 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001274 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001345 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001508 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001638 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001639 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001644 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001716 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001903 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0001945 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002014 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002019 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002079 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002092 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002120 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0002579 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0003477 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0003546 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0004372 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0004389 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0005157 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0005978 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0007067 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0007141 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0007302 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0007327 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0010783 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0011442 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0012444 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0012707 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0025268 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0031546 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0100027 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0100651 ORPHA:550 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000044 ORPHA:550 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000821 ORPHA:550 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:550 MELAS HP:0000829 ORPHA:550 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001249 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001263 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001288 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001999 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011968 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0410263 ORPHA:268261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000119 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000252 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000426 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000478 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001182 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001250 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001251 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001344 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001511 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001518 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001531 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001760 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001780 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002019 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002119 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002136 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002365 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002465 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0003429 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0004322 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0005768 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011757 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000010 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000023 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000028 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000041 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000047 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000049 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000122 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000278 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000411 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000430 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000455 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000486 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000490 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000518 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000540 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000545 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000565 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000582 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000718 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000729 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000739 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000767 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000818 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001276 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001562 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001822 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002015 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002020 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002021 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002033 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002069 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002079 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002120 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002123 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002171 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002360 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002373 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002650 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0002808 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0003196 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0010819 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0010946 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011147 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011470 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011822 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011917 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0012171 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0025163 ORPHA:268261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000054 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000185 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000365 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000483 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000541 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000612 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000687 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000821 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000824 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000960 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001256 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001627 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001629 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001641 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001650 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001659 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0010314 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0010442 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0011069 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0040188 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0100783 ORPHA:268261 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0000174 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0000377 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0000708 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0000750 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001249 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001263 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001270 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001999 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0002354 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0006891 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0007018 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0010522 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0410263 ORPHA:261183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0000252 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0000337 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0000717 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0000729 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0000736 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001250 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001251 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001627 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0002172 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0002370 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0100716 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0100753 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001629 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001631 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001636 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0001680 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0002198 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0005160 ORPHA:261183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000256 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001250 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001252 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001263 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001355 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001561 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001999 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0012469 ORPHA:500533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0002119 ORPHA:500533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0012430 ORPHA:500533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0030891 ORPHA:500533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000121 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000154 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000194 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000275 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000297 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000348 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000873 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001344 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001388 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001508 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001631 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0001635 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0002133 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0002307 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0002384 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0002553 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0003199 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0006829 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0010804 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0011182 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0011344 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0011968 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0030680 ORPHA:500533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0000083 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0000093 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0000738 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0000790 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0000952 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0001251 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0001324 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0001701 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0001733 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0001744 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0001888 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0001945 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002014 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002017 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002027 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002039 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002076 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002088 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002091 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002093 ORPHA:549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002103 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002105 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002113 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002383 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002615 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002716 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002829 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0002902 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0003326 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0004372 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0005528 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0009830 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0011675 ORPHA:549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0012115 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0012378 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0012735 ORPHA:549 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0012819 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0100584 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0100658 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0100749 ORPHA:549 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0100776 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:549 Legionnaires disease HP:0100806 ORPHA:549 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0009830 ORPHA:548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0000962 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0000966 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0002231 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0003202 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0003401 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0003489 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0006121 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0010829 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0010835 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0012181 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0012332 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0012645 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0020073 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0200036 ORPHA:548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0000421 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0001026 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0001324 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0001596 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0002087 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0002223 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0003376 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0007460 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0009027 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0010827 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0011334 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0011457 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0011821 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0012155 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0012185 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0012500 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0012804 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0030003 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0030351 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0012534 ORPHA:548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0000501 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0000554 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0000618 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0000771 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0000834 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0001101 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0001392 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0001743 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0005561 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0032404 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:548 Leprosy HP:0100583 ORPHA:548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0001004 ORPHA:545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0001287 ORPHA:545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0001744 ORPHA:545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0001824 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0001945 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0002202 ORPHA:545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0002585 ORPHA:545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0002665 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0002716 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0012378 ORPHA:545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0030166 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0100721 ORPHA:545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:545 Follicular lymphoma HP:0200036 ORPHA:545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99657 Primary dystonia, DYT2 type HP:0001304 ORPHA:99657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99657 Primary dystonia, DYT2 type HP:0000473 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99657 Primary dystonia, DYT2 type HP:0000643 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99657 Primary dystonia, DYT2 type HP:0001260 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99657 Primary dystonia, DYT2 type HP:0001337 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99657 Primary dystonia, DYT2 type HP:0002355 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99657 Primary dystonia, DYT2 type HP:0002451 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99657 Primary dystonia, DYT2 type HP:0004305 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99657 Primary dystonia, DYT2 type HP:0011968 ORPHA:99657 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99657 Primary dystonia, DYT2 type HP:0007325 ORPHA:99657 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001873 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001903 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001945 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002910 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002958 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0003073 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0003281 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0011112 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0011118 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0012145 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0012156 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0030356 ORPHA:540 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000967 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000979 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000988 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001019 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001410 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001744 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001875 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002086 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002155 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002240 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002611 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002716 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0003256 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0011121 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0011900 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0012178 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0012211 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0012229 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0030783 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0031364 ORPHA:540 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000707 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000952 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000978 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001250 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0001259 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002383 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002500 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0002583 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0004302 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0004313 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0009830 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0040186 ORPHA:540 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0000407 ORPHA:540 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0002149 ORPHA:543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0005561 ORPHA:543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0025435 ORPHA:543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0100649 ORPHA:543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0000137 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0001392 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0001732 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0001743 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0002017 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0002027 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0002239 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0002733 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0005214 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:543 Burkitt lymphoma HP:0005407 ORPHA:543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007722 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000622 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000505 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0011488 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0011484 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007787 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0001116 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000541 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0012230 ORPHA:364055 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000546 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000662 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000550 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000639 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007695 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0012434 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0002172 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007994 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000613 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000577 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000543 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0012426 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007843 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007703 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0001103 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007814 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007737 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000551 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007663 ORPHA:364055 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000545 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0000533 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0002317 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0011342 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364055 Severe early-childhood-onset retinal dystrophy HP:0007793 ORPHA:364055 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0003445 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0006873 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0007240 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0011402 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0012514 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0031006 ORPHA:208981 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0007220 ORPHA:208981 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:208981 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0007340 ORPHA:208981 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000298 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000544 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0001638 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002015 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003198 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003200 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003390 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003401 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003688 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003737 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0009830 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0010628 ORPHA:254886 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000365 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000479 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000505 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000508 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000648 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0000716 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0001251 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0001265 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0001272 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0001621 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002059 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002067 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002345 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002362 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002396 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002500 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002548 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002921 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0002936 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003546 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003552 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003701 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0007641 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0025403 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0030237 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0100295 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0100653 ORPHA:254886 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003236 ORPHA:254886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0003691 ORPHA:254886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia HP:0100543 ORPHA:254886 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000028 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000046 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000089 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000248 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000272 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000286 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000316 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000347 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000348 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000358 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000365 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000378 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000384 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000413 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000430 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000494 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000508 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000520 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000528 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000835 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000864 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0000873 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0001252 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0001263 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0001274 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0001558 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0001770 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0001773 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0002119 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0002714 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0002750 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0004209 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0004279 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0004322 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0006101 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0007598 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0010044 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0010047 ORPHA:264200 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0010627 ORPHA:264200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:264200 14q22q23 microdeletion syndrome HP:0012521 ORPHA:264200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002448 ORPHA:496756 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002497 ORPHA:496756 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0003693 ORPHA:496756 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0007269 ORPHA:496756 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001249 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001260 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001263 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001272 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001290 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002079 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002376 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0003444 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0003477 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0003698 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0009027 ORPHA:496756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0000648 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001285 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002425 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002650 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0007199 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0012678 ORPHA:496756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001250 ORPHA:496756 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0000829 ORPHA:496756 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0001510 ORPHA:496756 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0000737 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001250 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001263 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001508 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0008872 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0008947 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0012171 ORPHA:500545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0000252 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002187 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002360 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002521 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0010864 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0000455 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001118 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001257 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0001371 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002059 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002376 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0002650 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0005949 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0012430 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0012448 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0040288 ORPHA:500545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0000008 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0000238 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0000648 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0000790 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0001000 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0001004 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0001250 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0001541 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0001945 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0002027 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0002091 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0002094 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0002097 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0002105 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0002107 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0002113 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0002205 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0002239 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0002716 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0005562 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0006772 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0009594 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0009721 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0009726 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0010310 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0011852 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0012086 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0012378 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0012733 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0012735 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0012798 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0100543 ORPHA:538 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0100749 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0100750 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0100763 ORPHA:538 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:538 Lymphangioleiomyomatosis HP:0100804 ORPHA:538 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0001824 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0001873 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0001875 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0001959 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002015 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0008066 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0010783 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0012378 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0012733 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0100792 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0100806 ORPHA:537 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0001903 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002024 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002027 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002205 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002910 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0003781 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0012735 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0100518 ORPHA:537 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0000083 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0000142 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0000509 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0000572 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0000613 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0000621 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0000795 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0001637 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0001645 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0001733 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002017 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002091 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002098 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002103 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002239 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0002575 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0006554 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0031368 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0200020 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:537 Toxic epidermal necrolysis HP:0200042 ORPHA:537 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0000853 ORPHA:319487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002176 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002653 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002730 ORPHA:319487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002733 ORPHA:319487 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002757 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0002895 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0003003 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0005994 ORPHA:319487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0006528 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0006731 ORPHA:319487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0006766 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0012288 ORPHA:319487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:0012531 ORPHA:319487 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319487 Familial papillary or follicular thyroid carcinoma HP:3000037 ORPHA:319487 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000023 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000027 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000028 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000083 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000091 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000093 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000121 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000164 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000189 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000194 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000219 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000230 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000232 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000276 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000293 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000303 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000343 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000347 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000368 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000389 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000411 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000486 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000490 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000501 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000518 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000557 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000568 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000582 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000615 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000632 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000639 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000646 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000670 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000678 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000679 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000682 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000684 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000704 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000716 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000722 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000733 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000739 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000772 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000787 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000790 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000823 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000843 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000859 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000873 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000926 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000944 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0000987 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001249 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001250 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001284 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001319 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001369 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001386 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001387 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001508 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001522 ORPHA:534 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001537 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001608 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001873 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001903 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0001944 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002002 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002007 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002019 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002020 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002024 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002049 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002093 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002119 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002148 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002150 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002151 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002169 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002205 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002209 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002213 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002353 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002381 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002650 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002749 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002757 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002808 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002827 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002857 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002900 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002902 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0002999 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0003124 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0003355 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0004322 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0005469 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0005562 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0005692 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0005930 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0007018 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0007513 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0007731 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0007957 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0008069 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0008872 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0009804 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0010471 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0010807 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0011527 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100493 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100512 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100530 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100589 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100612 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100716 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100750 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100820 ORPHA:534 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100825 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0100835 ORPHA:534 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:534 Oculocerebrorenal syndrome of Lowe HP:0200042 ORPHA:534 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001919 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002090 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002098 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002383 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002586 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002754 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0003095 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0003201 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0004302 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0005521 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0007432 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0011955 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0012089 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0012747 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0012819 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0025059 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0032162 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0100523 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0100584 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0100806 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0200039 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001945 ORPHA:533 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001287 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002013 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002018 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002315 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002922 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0003326 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0010987 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0011450 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0011972 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0012378 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0025143 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0025258 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0031864 ORPHA:533 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0000236 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0000737 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001250 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001251 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001269 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001336 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001337 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001622 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002014 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002027 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002721 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002829 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002878 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0002955 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0003418 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0003474 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0005268 ORPHA:533 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0006824 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0007185 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0012330 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0025615 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0030049 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0031179 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0100022 ORPHA:533 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0000365 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0000509 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0000572 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0000952 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001082 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001249 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001297 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001635 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:533 Listeriosis HP:0001701 ORPHA:533 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0002715 ORPHA:535 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0005339 ORPHA:535 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0011121 ORPHA:535 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0025300 ORPHA:535 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0030057 ORPHA:535 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0000992 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0007417 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0010783 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0011830 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0025474 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0025475 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0025526 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0025528 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0040186 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0040189 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0100585 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0100803 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0200035 ORPHA:535 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0000155 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0000234 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0000282 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0000363 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0000464 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0001025 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0001075 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0001217 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0001232 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0001438 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0001454 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0001482 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0001806 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0001820 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0001965 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0002165 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0002293 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0002814 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0002815 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0003043 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0004552 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0007432 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0007473 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0007502 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0008066 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0008404 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0009123 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0009811 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0011276 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0011911 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0012490 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0012500 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0030254 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0031093 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0031190 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0031191 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0031234 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0031293 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0032156 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0032217 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0100539 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0100825 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0100871 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0100872 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0200039 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:535 Rare cutaneous lupus erythematosus HP:0200041 ORPHA:535 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0012321 ORPHA:99646 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003016 ORPHA:99646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003025 ORPHA:99646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0005701 ORPHA:99646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0005868 ORPHA:99646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0011849 ORPHA:99646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000926 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001367 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001508 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001510 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001511 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003021 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003301 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0004322 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0009803 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0030294 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0030295 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0030296 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0030297 ORPHA:99646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000122 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000233 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000256 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000278 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000337 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000343 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000400 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000470 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000494 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000506 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000519 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000666 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000914 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0000958 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001048 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001263 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001270 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001290 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001601 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0001684 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002033 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002098 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002119 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002453 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002515 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002828 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0002970 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003029 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0003796 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0004242 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0004626 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0004820 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0004948 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0006532 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0006610 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0007033 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0007361 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0007375 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0007486 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0010576 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0011470 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0011681 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0011968 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0012448 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0012762 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0012766 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0025473 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0030866 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0100255 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0100764 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0100806 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0200035 ORPHA:99646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0003077 ORPHA:391665 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0003124 ORPHA:391665 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0003141 ORPHA:391665 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0004416 ORPHA:391665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0005177 ORPHA:391665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0000822 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001397 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001645 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001658 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001681 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001920 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0002094 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0004950 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001677 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0005162 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0005181 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0006693 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0007201 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0012397 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0030148 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0100261 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:3000062 ORPHA:391665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0000799 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0000991 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001653 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0002829 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0004381 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0004963 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0010874 ORPHA:391665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0001138 ORPHA:391665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0012373 ORPHA:391665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0012638 ORPHA:391665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391665 Homozygous familial hypercholesterolemia HP:0030882 ORPHA:391665 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0000164 ORPHA:573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0000499 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0000518 ORPHA:573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0000534 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0008070 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0001249 ORPHA:573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0001597 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0002213 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0002217 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0002232 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0002299 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0007502 ORPHA:573 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0100543 ORPHA:573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:573 Monilethrix HP:0100753 ORPHA:573 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0000212 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0000280 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001072 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001270 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001537 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001538 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001609 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0002474 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0004322 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0006596 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0008897 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0030680 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0031650 ORPHA:576 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0000388 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0000405 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0000774 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001363 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001376 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001633 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001653 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0002091 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0002465 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0002540 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0002870 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0005280 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0010444 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0012368 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0045027 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0100543 ORPHA:576 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0000023 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0000286 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0000586 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001433 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001540 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001562 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001638 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001646 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001655 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001659 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001712 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001762 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001824 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0002205 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0002213 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0002808 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0002827 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0003273 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0005487 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0006203 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0006248 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0006380 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0006467 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0007421 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0008936 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0010307 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0011314 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0011359 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0011364 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0012389 ORPHA:576 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0000407 ORPHA:576 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0001744 ORPHA:576 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0004887 ORPHA:576 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:576 Mucolipidosis type II HP:0011471 ORPHA:576 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000078 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000100 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000112 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000174 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000256 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000366 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000408 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000501 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000509 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000554 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000648 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000823 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0000988 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0001025 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0001369 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0001608 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0001744 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0001761 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0001769 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0001903 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0001917 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0001939 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0001945 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0002027 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0002091 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0002240 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0002633 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0002829 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0003326 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0003565 ORPHA:575 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0004299 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0004322 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0006824 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0008064 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0011107 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0100490 ORPHA:575 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:575 Muckle-Wells syndrome HP:0100534 ORPHA:575 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003365 ORPHA:99642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0008800 ORPHA:99642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0008843 ORPHA:99642 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0000924 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0000925 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0000926 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0002355 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0002938 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003179 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003273 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003521 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0004322 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0004594 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0009046 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0010575 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0030043 ORPHA:99642 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0001155 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0001385 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0002515 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0002812 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0002815 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003510 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0004026 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0005108 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0006387 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0006429 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0008812 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0030839 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu type HP:0100864 ORPHA:99642 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000044 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000175 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000194 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000218 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000232 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000286 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000298 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000347 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000365 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000486 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000498 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000505 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000508 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000602 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000691 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0000717 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0001156 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0001252 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0001270 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0001522 ORPHA:570 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0001608 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0001762 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0002015 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0002804 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0040071 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0003202 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0004050 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0004209 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0004408 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0005914 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0006101 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0006501 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0006824 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0007565 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0007957 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0008872 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0009601 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0009751 ORPHA:570 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0009804 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0010295 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0010628 ORPHA:570 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570 Moebius syndrome HP:0100783 ORPHA:570 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0031390 ORPHA:572 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002205 ORPHA:572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0004798 ORPHA:572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005354 ORPHA:572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0000246 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001508 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002014 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002718 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002726 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002728 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002841 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0004313 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0004385 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0004429 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005353 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005368 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005386 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005401 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005407 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0012384 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0025347 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0030991 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0200124 ORPHA:572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0000371 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0000988 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001875 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001876 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001890 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001904 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001973 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002960 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0003139 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0005403 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0031381 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0031394 ORPHA:572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001260 ORPHA:572 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0001999 ORPHA:572 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:572 Immunodeficiency by defective expression of MHC class II HP:0002066 ORPHA:572 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003198 ORPHA:254875 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001290 ORPHA:254875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001324 ORPHA:254875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002093 ORPHA:254875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002333 ORPHA:254875 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001252 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001265 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001270 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001531 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002098 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002197 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002355 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002376 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002460 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002747 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002878 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003202 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003324 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003546 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003698 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0006532 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0007105 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0008872 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0009073 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0012432 ORPHA:254875 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0000590 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0000597 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001260 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001283 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0001488 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002015 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0003326 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0005946 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0008610 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0008625 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0030319 ORPHA:254875 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0002650 ORPHA:254875 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0007269 ORPHA:254875 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form HP:0100543 ORPHA:254875 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000076 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000113 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000130 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000160 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000238 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000252 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000272 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000286 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000343 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000347 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000369 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000385 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000396 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000426 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000431 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000470 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000486 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000494 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000508 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000518 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000568 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000582 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000627 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000682 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000708 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000717 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000739 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000778 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000929 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001053 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001136 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001250 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001281 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001561 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001631 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001636 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001641 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001643 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001646 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000023 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000028 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000047 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000089 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000164 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000175 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000262 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000276 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000316 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000322 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000365 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000389 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000405 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000414 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000453 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000492 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000501 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000506 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000600 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000648 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000670 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000716 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000765 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000821 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000829 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000836 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0000979 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001051 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001061 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001081 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001161 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001166 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001249 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001252 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001256 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001263 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001328 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001369 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001508 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001511 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001513 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001537 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001601 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001611 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001629 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001660 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001744 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001762 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001829 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001872 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001873 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0001999 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002019 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002020 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002023 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002099 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002139 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002239 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002251 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002381 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002414 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002435 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0030680 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002566 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002607 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002619 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002650 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002691 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002721 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002901 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002960 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002999 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0003326 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0004322 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0005435 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0005562 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0005692 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0006510 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0002101 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0007018 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0007271 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0007302 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0008872 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0011324 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0011496 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0011662 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0012303 ORPHA:567 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0012732 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0100735 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0100750 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0100753 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567 22q11.2 deletion syndrome HP:0100765 ORPHA:567 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0007695 ORPHA:566 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0007730 ORPHA:566 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0007990 ORPHA:566 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0012805 ORPHA:566 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0000483 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0000505 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0000613 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0007906 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0012047 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0012108 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0031730 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0100018 ORPHA:566 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0000485 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0000519 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0000618 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0000622 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0000662 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:566 Congenital microcoria HP:0012040 ORPHA:566 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001324 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002077 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002167 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002353 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011153 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011157 ORPHA:569 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0000365 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0000575 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0000651 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001260 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001269 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001289 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001308 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002172 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002181 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002321 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002922 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0003401 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0004305 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0007240 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0010835 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011172 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011468 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0012229 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0012508 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0030786 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0200149 ORPHA:569 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0000360 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001259 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001272 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002301 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002381 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0010829 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0007209 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0007979 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0008959 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0010544 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0010833 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011199 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0012044 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0031179 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0032044 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0032506 ORPHA:569 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0001249 ORPHA:569 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0002133 ORPHA:569 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0003392 ORPHA:569 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0011196 ORPHA:569 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:569 Familial or sporadic hemiplegic migraine HP:0100576 ORPHA:569 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000028 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000047 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000072 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000126 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000164 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000202 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000252 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000365 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000368 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000384 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000465 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000482 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000501 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000505 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000518 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000567 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000568 ORPHA:568 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000588 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000612 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000639 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000684 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0000889 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0001249 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0001250 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0002167 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0030680 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0002650 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0002808 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0003043 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0003307 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0004209 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0004322 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0006101 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0006482 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0007370 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0008572 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0008678 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0009755 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0009943 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0100490 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0100716 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568 Microphthalmia, Lenz type HP:0100818 ORPHA:568 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0000822 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0001635 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0001644 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0001649 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0001712 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0001962 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0002094 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0002875 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0005135 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0010741 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0011703 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0012378 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0012664 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0012764 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0025169 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0030848 ORPHA:563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0001653 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0001708 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0001907 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0002092 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0004756 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0005120 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0005133 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0006705 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0012398 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0012763 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0012819 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0030148 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0030356 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0030830 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0031295 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0100749 ORPHA:563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0000819 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0001513 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0001903 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0002027 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0002099 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0002401 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0002878 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0002926 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0002960 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0011713 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:563 Peripartum cardiomyopathy HP:0030149 ORPHA:563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001263 ORPHA:508488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002342 ORPHA:508488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0004322 ORPHA:508488 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000219 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000286 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000293 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000319 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000321 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000343 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000358 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000431 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000455 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000463 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000470 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000729 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001155 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001388 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001511 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001627 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002474 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0004209 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0004220 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0007663 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0008081 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0008872 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0010722 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0011470 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0040019 ORPHA:508488 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000023 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000076 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000077 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000122 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000125 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000300 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000308 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000341 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000480 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000486 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000490 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000527 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000574 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000577 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000582 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000609 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000744 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000752 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000767 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000774 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000817 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000891 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0000954 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001250 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001290 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001374 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001385 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001518 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001562 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001629 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001643 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001660 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001674 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001680 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001738 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001763 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001838 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0001883 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002015 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002020 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002079 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002098 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002101 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002239 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002283 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002553 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002943 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0002983 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0003097 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0003298 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0005176 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0005306 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0005484 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0006695 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0007633 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0009237 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0009796 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0010109 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0010511 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0010529 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0010609 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0010733 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0011067 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0011220 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0011332 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0011406 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0011755 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0012304 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0012584 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0100033 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0100807 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:0010289 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508488 8q24.3 microdeletion syndrome HP:3000038 ORPHA:508488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000138 ORPHA:562 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000826 ORPHA:562 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0005605 ORPHA:562 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0031072 ORPHA:562 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000035 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000053 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000124 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000820 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000836 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0001507 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0002650 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0002693 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0002823 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0005616 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0010734 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0010736 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0011821 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0030088 ORPHA:562 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000117 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000144 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000271 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000324 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000365 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000689 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000845 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000853 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000858 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000870 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0001733 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0001742 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0002020 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0002653 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0002749 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0002757 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0003401 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0006719 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0008768 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0010735 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0010791 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0012028 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0020110 ORPHA:562 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0000572 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0001396 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0001579 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0001876 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0002148 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0003002 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0003109 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0003118 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0005528 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0012063 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0012115 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:562 McCune-Albright syndrome HP:0030428 ORPHA:562 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000015 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000023 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000174 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000252 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000269 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000293 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000298 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000347 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000708 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000767 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000774 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000934 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000939 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000944 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000958 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000974 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0000987 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0001072 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0001249 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0001250 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0001252 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0001257 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0001276 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0001324 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0001511 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0001537 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0001943 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002017 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002024 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002045 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002072 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002170 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002224 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002239 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002376 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002617 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002645 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002754 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0002757 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0005293 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0005344 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0005599 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0005692 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0006487 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0006579 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0007420 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0008070 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0008368 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0008872 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0010318 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0012378 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0100545 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0100777 ORPHA:565 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0100790 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565 Menkes disease HP:0100806 ORPHA:565 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000003 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000028 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000037 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000062 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000068 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000073 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000175 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000221 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000238 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000252 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000293 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000316 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000340 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000347 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000368 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000457 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000482 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000518 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000528 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000532 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000568 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000647 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0000648 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0001162 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0001177 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0001305 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0001562 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0001696 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0001737 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0001746 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0001747 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0001830 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0001883 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0002084 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0002323 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0030680 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0002612 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0006487 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0006706 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0006870 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0007370 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0008053 ORPHA:564 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0010295 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0010459 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:564 Meckel syndrome HP:0100732 ORPHA:564 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000278 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000463 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000520 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000963 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0001249 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0001508 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0003100 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0005616 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0005692 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0006487 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0011220 ORPHA:561 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000194 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000316 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000405 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000592 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000978 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0002230 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0002650 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0002659 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0003196 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0004349 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0010808 ORPHA:561 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000212 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000453 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0000648 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0001321 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0001363 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0002119 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:561 Marshall-Smith syndrome HP:0030680 ORPHA:561 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000164 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000175 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000215 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000248 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000272 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000327 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000343 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000347 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000407 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000431 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000463 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000501 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000518 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0045075 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000541 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000545 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000646 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0007773 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0002007 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0002684 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0002758 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0002829 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0004322 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0004327 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0005280 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0010669 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0012368 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000179 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000218 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000316 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000486 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000505 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000520 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000639 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000653 ORPHA:560 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0000966 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0008070 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0001083 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0002514 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0002738 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0002857 ORPHA:560 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:560 Marshall syndrome HP:0003196 ORPHA:560 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001622 ORPHA:391673 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001518 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001875 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001974 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0002014 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0002902 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0003270 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0012537 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0025085 ORPHA:391673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0000969 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001254 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001541 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001543 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001627 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001662 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001873 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001941 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0001942 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0002013 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0002104 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0002151 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0002586 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0002615 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0003074 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0005521 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0005968 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0011014 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0031273 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391673 Necrotizing enterocolitis HP:0040187 ORPHA:391673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000256 ORPHA:589821 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000297 ORPHA:589821 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0010804 ORPHA:589821 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0031843 ORPHA:589821 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000736 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001319 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001622 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001883 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002119 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002486 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002643 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002650 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0007010 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0011098 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0011705 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0011710 ORPHA:589821 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000518 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000729 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000750 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000752 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0000805 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001558 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001561 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001643 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001671 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002014 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002015 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002019 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002020 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002027 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0002360 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0004325 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0040183 ORPHA:589821 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589821 Congenital-onset Steinert myotonic dystrophy HP:0001513 ORPHA:589821 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001290 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001324 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0003198 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0003200 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0003688 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0009051 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0009058 ORPHA:254864 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001265 ORPHA:254864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0002098 ORPHA:254864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0004900 ORPHA:254864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0008180 ORPHA:254864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0011923 ORPHA:254864 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0000158 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0000218 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0000707 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001392 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001626 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0002033 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0002240 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0003234 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0004887 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0005946 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0011470 ORPHA:254864 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0002194 ORPHA:254864 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000077 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000248 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000252 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000303 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000321 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000322 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000400 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000431 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000541 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000545 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000557 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000558 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000696 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000787 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000851 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0001182 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0001848 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0002076 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0005487 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0005990 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0008007 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0008619 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0010490 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0010804 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0012448 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0020038 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0100807 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000252 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000315 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000486 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000501 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000508 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000518 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000568 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000609 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000612 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000646 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000647 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000766 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0000821 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001100 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001250 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001252 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001263 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001274 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001305 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001321 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001627 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001636 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001671 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0001680 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0002408 ORPHA:42775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0002616 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0004374 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0005306 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0005344 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0007797 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0009145 ORPHA:42775 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0100028 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0100719 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42775 PHACE syndrome HP:0100761 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0000135 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0000486 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0000518 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001249 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001251 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001252 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001260 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001263 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001321 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001328 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001460 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001618 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0002167 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0002334 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0003198 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0003241 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0003510 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0012400 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0040081 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0045040 ORPHA:559 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0000639 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0000768 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001156 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0005916 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001167 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001257 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001276 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001385 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0002063 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0002650 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0002673 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0002827 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0003202 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0003552 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0003560 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0004279 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0005743 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0010508 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0010547 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0100660 ORPHA:559 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0000252 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0000648 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001265 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0001284 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:559 Marinesco-Sjögren syndrome HP:0009830 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0000012 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0000019 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0000093 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0000140 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0000157 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0000464 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0000790 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0000988 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0000989 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0001482 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0001892 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0001945 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0002014 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0002027 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0002721 ORPHA:556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0002729 ORPHA:556 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0011123 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0012735 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0100273 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0100518 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0100577 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0100743 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0100749 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0100787 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0100796 ORPHA:556 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0200034 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556 Malakoplakia HP:0200042 ORPHA:556 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000232 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000470 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000687 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0001249 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0001252 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0001763 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0006191 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0007552 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0012811 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0045025 ORPHA:487825 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000233 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000248 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000289 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000316 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000319 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000348 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000358 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000365 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000486 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000490 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000506 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0001212 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0001518 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0001831 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0002650 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0006610 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0007367 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0007605 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0009381 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0009909 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0011341 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0011451 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0100872 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0410263 ORPHA:487825 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000028 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000219 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000272 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000400 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000482 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0000568 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0001344 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0001388 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0002119 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0002308 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0002536 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0009890 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0011344 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487825 Pierpont syndrome HP:0012043 ORPHA:487825 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000768 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001065 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001166 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001519 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001533 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001763 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0002108 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0004970 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0012432 ORPHA:558 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000275 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000505 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000545 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000678 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000767 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001083 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001132 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001382 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001634 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0002360 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0002650 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0002705 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0003179 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0005059 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0007800 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0012019 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0010668 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0100775 ORPHA:558 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000023 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000175 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000268 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000278 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000347 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000494 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000501 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000541 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000938 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0000939 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001252 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0001635 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0002097 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0002105 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0002435 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0002636 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0002808 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0002996 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0003202 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0003302 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0003326 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0004326 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0004382 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0004927 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0004933 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0005294 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0006687 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0007018 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0007676 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0007720 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0010807 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:558 Marfan syndrome HP:0012499 ORPHA:558 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0012732 ORPHA:557 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0000119 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0000143 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0002023 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0002937 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0004397 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0025407 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0030711 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0100590 ORPHA:557 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0000047 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0000365 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0002144 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0002475 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0003396 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0009790 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:557 Non-syndromic anorectal malformation HP:0012621 ORPHA:557 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0000980 ORPHA:98375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0001324 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0001635 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0001744 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0001878 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0001881 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0001945 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0002027 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0002094 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0002315 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0002665 ORPHA:98375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0002721 ORPHA:98375 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0002960 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0011675 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0012086 ORPHA:98375 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:98375 Autoimmune hemolytic anemia HP:0012378 ORPHA:98375 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0000083 ORPHA:510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0000708 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0000790 ORPHA:510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0001256 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0001257 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0001903 ORPHA:510 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0001997 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0002149 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0002342 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0004374 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:510 Lesch-Nyhan syndrome HP:0100022 ORPHA:510 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000252 ORPHA:391641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0001770 ORPHA:391641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0002589 ORPHA:391641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0005819 ORPHA:391641 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000347 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0001328 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0001999 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0002032 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0004209 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0004220 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0004691 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0004692 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0009577 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0009778 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0012745 ORPHA:391641 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000076 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000077 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000083 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000085 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000110 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000123 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000126 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000405 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0000407 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0001627 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0001643 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0002247 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0010446 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0011611 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0011625 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0011662 ORPHA:391641 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0001249 ORPHA:391641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0002023 ORPHA:391641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0004322 ORPHA:391641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:391641 Feingold syndrome type 1 HP:0005235 ORPHA:391641 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0000174 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0000239 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0000248 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0000324 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0000347 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0000592 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0000772 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0000774 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0000912 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0001024 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0001252 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0001373 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0002007 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0002644 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0002645 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0003103 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0004322 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0004331 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0005280 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0005692 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0006487 ORPHA:2097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0010807 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0011912 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0012368 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2097 Grant syndrome HP:0100729 ORPHA:2097 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003546 ORPHA:254854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003551 ORPHA:254854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003701 ORPHA:254854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0009046 ORPHA:254854 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0002359 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0002460 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0002515 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0002600 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003391 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003547 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003722 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003749 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0007126 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0009020 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0030199 ORPHA:254854 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0000590 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0001260 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0001488 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0002938 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003326 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003327 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003394 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003731 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0002505 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0030192 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0030195 ORPHA:254854 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0000651 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0001252 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0001270 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0002650 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003201 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003652 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254854 Pure mitochondrial myopathy HP:0003691 ORPHA:254854 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000164 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000248 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000294 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000316 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000327 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000405 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000478 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000483 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000492 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000504 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000636 ORPHA:2095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000639 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000647 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000677 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0000929 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0005916 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0001256 ORPHA:2095 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0001537 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0001643 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0001760 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0002208 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0002230 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0004322 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0004440 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0008497 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0009882 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0009891 ORPHA:2095 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2095 Gorlin-Chaudhry-Moss syndrome HP:0010940 ORPHA:2095 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000158 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000232 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000252 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000286 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000303 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000319 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000411 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000414 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000494 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000581 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000733 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0001250 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0001252 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0001274 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0001344 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0001510 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0002020 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0002376 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0002650 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0002808 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0003196 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0003781 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0005280 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0005487 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0009738 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0010804 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0010864 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0011968 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0100540 ORPHA:261144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0000822 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003236 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003547 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003557 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0008963 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0009027 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0100297 ORPHA:437572 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001315 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001761 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0002355 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003376 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003458 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003687 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003691 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003724 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0009072 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0009129 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0011808 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0030237 ORPHA:437572 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0011675 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0011711 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0030148 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0030664 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0031108 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001249 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001288 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001436 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001626 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001671 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0001763 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0002058 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003029 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003307 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003394 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003484 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0003555 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0005162 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0005991 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0006251 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0006467 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0006510 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0008800 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0008956 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0009053 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0010505 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0010628 ORPHA:437572 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0007663 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0008619 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0008872 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0012433 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0025013 ORPHA:309256 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0031358 ORPHA:309256 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000020 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000648 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000762 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001250 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001260 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001265 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001290 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001324 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001332 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002066 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002312 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002359 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002376 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002415 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002922 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0003444 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0007133 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0007240 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0030081 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0030051 ORPHA:309256 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000649 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000712 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000738 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0000746 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001082 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001257 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0002371 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0003270 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0003487 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309256 Metachromatic leukodystrophy, late infantile form HP:0001939 ORPHA:309256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0200063 ORPHA:157798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0005227 ORPHA:157798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0100808 ORPHA:157798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0100834 ORPHA:157798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0002861 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0002862 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0003002 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0006725 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0012125 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0012189 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0100008 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0100574 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0100615 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157798 Serrated polyposis syndrome HP:0100728 ORPHA:157798 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000750 ORPHA:364028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001263 ORPHA:364028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000708 ORPHA:364028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001250 ORPHA:364028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001328 ORPHA:364028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001533 ORPHA:364028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002342 ORPHA:364028 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000028 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000054 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000126 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000188 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000189 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000194 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000248 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000256 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000272 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000297 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000303 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000322 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000336 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000400 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000490 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000508 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000675 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000718 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000729 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000742 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0000817 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001256 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001257 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001265 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001270 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001320 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001336 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001388 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0001763 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002069 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002079 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002133 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002360 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002460 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002650 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002719 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002808 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0002816 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0003487 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0004322 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0006863 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0006951 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0006979 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0007021 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0007655 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0008936 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0009909 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0010864 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0012471 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations HP:0030236 ORPHA:364028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000003 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000023 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000085 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000126 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000164 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000307 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000324 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000365 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000369 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000370 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000446 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000486 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000567 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000568 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000612 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000682 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000773 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000776 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000894 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0000963 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001000 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001018 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001083 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001161 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001171 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001482 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001537 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001539 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001540 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001596 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001597 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001629 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001643 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001671 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001770 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0001839 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0002020 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0002027 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0002247 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0002414 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0002650 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0004334 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0004930 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0005930 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0006101 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0006482 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0006554 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0006703 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0007676 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0007957 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0008065 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0008678 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0008839 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0009124 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0009804 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0010783 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0010807 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0011847 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0012733 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0012740 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0045026 ORPHA:2092 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0100490 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0100543 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0100559 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0100560 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0100585 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0100670 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0100790 ORPHA:2092 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2092 Focal dermal hypoplasia HP:0200036 ORPHA:2092 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0000083 ORPHA:254857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0000590 ORPHA:254857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0001638 ORPHA:254857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0004900 ORPHA:254857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0011344 ORPHA:254857 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0001250 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0001254 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0001284 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0002643 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0006583 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254857 Lethal infantile mitochondrial myopathy HP:0008935 ORPHA:254857 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome HP:0000003 ORPHA:2091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome HP:0001162 ORPHA:2091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome HP:0001199 ORPHA:2091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome HP:0001841 ORPHA:2091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2091 Multinodular goiter-cystic kidney-polydactyly syndrome HP:0005987 ORPHA:2091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0000252 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0000286 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0000369 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0000494 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0000558 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0001249 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0001622 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0002093 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0004322 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0004467 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0005180 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0005280 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2090 GMS syndrome HP:0008872 ORPHA:2090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0001892 ORPHA:157794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0002573 ORPHA:157794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0012183 ORPHA:157794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0003003 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0005227 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0005505 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0007378 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0012198 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0100896 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0200063 ORPHA:157794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0002576 ORPHA:157794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0040276 ORPHA:157794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0100743 ORPHA:157794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0002890 ORPHA:157794 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0006771 ORPHA:157794 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0012114 ORPHA:157794 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0012125 ORPHA:157794 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:157794 Hereditary mixed polyposis syndrome HP:0100245 ORPHA:157794 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0001873 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0001945 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002017 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002027 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002039 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002152 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002315 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002615 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002829 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0003326 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0008150 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0030953 ORPHA:509 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0000952 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0000988 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0001287 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0001919 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002011 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002014 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002098 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002105 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002202 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002240 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0002716 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0011705 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0012115 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0012735 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0025143 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0025439 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0031197 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0040223 ORPHA:509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0000554 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0000573 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0001085 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0001701 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0003201 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0011675 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0011896 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0012424 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0030497 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:509 Leptospirosis HP:0100653 ORPHA:509 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000855 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000962 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000998 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0003162 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0003758 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0008846 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0008897 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0011998 ORPHA:508 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000040 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000065 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000105 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000842 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000956 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0001249 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0001508 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0001639 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0002219 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0002240 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0003202 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0003247 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0003270 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0004325 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0004405 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0004914 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0008665 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0011344 ORPHA:508 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000121 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000252 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000307 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000316 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000369 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000411 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000445 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000848 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000859 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0000974 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0001072 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0001176 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0001833 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0002035 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0002150 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0002900 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0008936 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0011787 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0012471 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0025024 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:508 Leprechaunism HP:0100879 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001156 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001162 ORPHA:2098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001387 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001522 ORPHA:2098 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001773 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0001831 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0002652 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0002983 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0003038 ORPHA:2098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0005048 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0005736 ORPHA:2098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0005914 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0006487 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0008368 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0008873 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0009601 ORPHA:2098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0100242 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2098 Acromesomelic dysplasia, Grebe type HP:0100387 ORPHA:2098 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0000989 ORPHA:505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0001596 ORPHA:505 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0002209 ORPHA:505 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0002215 ORPHA:505 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0002225 ORPHA:505 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0007468 ORPHA:505 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505 Graham Little-Piccardi-Lassueur syndrome HP:0100725 ORPHA:505 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0000163 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0001744 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0001876 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0001892 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0001954 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0002240 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0002716 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0004311 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0011830 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0012384 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0030166 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0200034 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0200035 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0200042 ORPHA:507 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0000980 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0001824 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0001903 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0002829 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0002910 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0003073 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0010702 ORPHA:507 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0001873 ORPHA:507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0001882 ORPHA:507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0002039 ORPHA:507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:507 Leishmaniasis HP:0012378 ORPHA:507 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001321 ORPHA:314603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001347 ORPHA:314603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002497 ORPHA:314603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0000012 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0000666 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001256 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001257 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001310 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001332 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002066 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002073 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002120 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002352 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002464 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0002650 ORPHA:314603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy HP:0008619 ORPHA:314603 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002151 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002490 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0003128 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0003648 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0008947 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0012379 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0100022 ORPHA:506 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000407 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000587 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000602 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000648 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000998 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001508 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001510 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001639 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002171 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002344 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002376 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002415 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002493 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002928 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0004305 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0006943 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0007183 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0008336 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0008972 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0011923 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0011968 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0012696 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0012707 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0012747 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0012748 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0012751 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001263 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0031691 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0100321 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0410263 ORPHA:506 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000508 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000639 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000924 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001250 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001251 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001257 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001264 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001266 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001274 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001324 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001332 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001399 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001635 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001903 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001943 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001993 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002015 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002071 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002072 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002079 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002305 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002460 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002487 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002521 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002542 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002793 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002828 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002878 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002909 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0003198 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0003202 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0003219 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0003348 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0003390 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0003535 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0008347 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0009830 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0011924 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0012120 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0200147 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0410145 ORPHA:506 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000100 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000124 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000348 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000400 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000518 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0000964 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001272 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001511 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001596 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001629 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001875 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001947 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0001999 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002133 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0002579 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0008314 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0011335 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0012469 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0040197 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:506 Leigh syndrome HP:0100660 ORPHA:506 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0100318 ORPHA:501 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0001250 ORPHA:501 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0000712 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0000716 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0000726 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0001251 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0001257 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0001260 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0001268 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0001288 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0001289 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0001312 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002100 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002123 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002133 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002315 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002367 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002521 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002540 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0025357 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0040288 ORPHA:501 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0001336 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0001399 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002069 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002121 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002360 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0002384 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0007270 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0007334 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0007359 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0007537 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0010819 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0012444 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0011165 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:501 Lafora disease HP:0031358 ORPHA:501 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000028 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000047 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000078 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000144 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000248 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000271 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000316 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000325 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000368 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000407 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000431 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000465 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000508 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000767 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000768 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000912 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000974 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0000995 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001003 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001256 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001263 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001480 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001482 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001510 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001511 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001608 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001633 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001634 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001639 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001641 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001642 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0001658 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0030680 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0002617 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0002650 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0002861 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0002863 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0003006 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0003298 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0003691 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0004306 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0004322 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0004414 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0006695 ORPHA:500 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0007392 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0008625 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0010318 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0011675 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0011710 ORPHA:500 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:500 Noonan syndrome with multiple lentigines HP:0100542 ORPHA:500 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0000028 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0000175 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0000272 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0000316 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0000405 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0001156 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0001249 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0001363 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0001626 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0001799 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0002093 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0002650 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0003319 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0003422 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0004232 ORPHA:503 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0004322 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0005008 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0005280 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0005692 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0005930 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0006101 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0008755 ORPHA:503 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0009836 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0009882 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0011220 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0011304 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:503 Larsen syndrome HP:0012368 ORPHA:503 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000010 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000076 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000164 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000174 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000219 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000252 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000343 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000368 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000405 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000411 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000414 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000431 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000574 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001156 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001249 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001252 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001373 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001385 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001510 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001582 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0001883 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002002 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002119 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002209 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0030680 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002653 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002750 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0002857 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0004322 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0005039 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0005692 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0005743 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0007598 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0009118 ORPHA:502 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0009928 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0010230 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0011069 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0100777 ORPHA:502 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0000315 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0000620 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0001733 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0001880 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0002716 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0003212 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0003493 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0007734 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0010824 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0011227 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0011482 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0012393 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0031281 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0032300 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0100539 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:3000061 ORPHA:449563 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0000077 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0000246 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0000492 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0000496 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0000587 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0002088 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0005200 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0008049 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0009831 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0030669 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0100540 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:3000030 ORPHA:449563 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0000024 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0000491 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0000579 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0002665 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0003003 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0011747 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0012539 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0030151 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0031912 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0100526 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0100646 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0100661 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0100796 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:449563 IgG4-related ophthalmic disease HP:0430022 ORPHA:449563 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0000572 ORPHA:2086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0000639 ORPHA:2086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0000648 ORPHA:2086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0001067 ORPHA:2086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0007663 ORPHA:2086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0000238 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0000486 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0000520 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0000602 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0000618 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0000707 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0000826 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0001085 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0001123 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0001250 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0001263 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0001510 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0002013 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0002018 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0002315 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0002321 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0002376 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2086 Optic pathway glioma HP:0003473 ORPHA:2086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2085 Glaucoma-sleep apnea syndrome HP:0000501 ORPHA:2085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2085 Glaucoma-sleep apnea syndrome HP:0002093 ORPHA:2085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2085 Glaucoma-sleep apnea syndrome HP:0010535 ORPHA:2085 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0001249 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0001270 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0002465 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0003236 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0008981 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0008994 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0100614 ORPHA:565899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0003202 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0003698 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0005912 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0007018 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0009046 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24 HP:0011892 ORPHA:565899 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome HP:0000501 ORPHA:2084 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome HP:0001083 ORPHA:2084 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome HP:0004322 ORPHA:2084 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0001332 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0001347 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002059 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002180 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002267 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002376 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002478 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0004322 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0007256 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0009062 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0010780 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0100543 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0100852 ORPHA:309246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0000719 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0000739 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0001250 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002072 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002371 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002476 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0008897 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0010729 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0012547 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0030904 ORPHA:309246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0002200 ORPHA:309246 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:309246 GM2 gangliosidosis, AB variant HP:0030081 ORPHA:309246 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000028 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000046 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000126 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000252 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000268 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000347 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000358 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000396 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000400 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000426 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000430 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000470 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000474 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001156 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001250 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001263 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001276 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001510 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001511 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0001608 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0002057 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0002119 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0002553 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0003196 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0006610 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0007598 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0008736 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0010720 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0012745 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0100490 ORPHA:2083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0100543 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000218 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000252 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000319 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000343 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000347 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000368 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000648 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000750 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000768 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000954 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001007 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001162 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001187 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001249 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001263 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001283 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001332 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001508 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001830 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001838 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001999 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002063 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002071 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002079 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002093 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002104 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002119 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002267 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002352 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002478 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002509 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002521 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002536 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002808 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0003196 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0005781 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0007514 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0008278 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0010804 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001252 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0011968 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0012098 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0012448 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0012762 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0031162 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0100807 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000407 ORPHA:521426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000639 ORPHA:521426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000975 ORPHA:521426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0001250 ORPHA:521426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0002483 ORPHA:521426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0000737 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0001946 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0002919 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0003076 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0011998 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0012734 ORPHA:2089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0001250 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0001254 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0001263 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0001508 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0002910 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0003077 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0004322 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0011024 ORPHA:2089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0001508 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0001947 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0002148 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0003109 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0004919 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0006568 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0040270 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0500030 ORPHA:2088 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0001510 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0001942 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0002150 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0002240 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0002748 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0003076 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0003162 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0003270 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0011998 ORPHA:2088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0000112 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0000121 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0000819 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0000938 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0001399 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0002155 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0002909 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0003155 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0006487 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0020110 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0031956 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0031964 ORPHA:2088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0000295 ORPHA:2088 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2088 Fanconi-Bickel syndrome HP:0001402 ORPHA:2088 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001263 ORPHA:542306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001626 ORPHA:542306 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000512 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000639 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000750 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001250 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001252 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001344 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001662 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0002020 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0005155 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0010864 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0011675 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0011704 ORPHA:542306 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000546 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000563 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0000817 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001655 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0002421 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0002521 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0007010 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0012248 ORPHA:542306 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0003468 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0003508 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0005280 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0008064 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0008404 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0030055 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0001903 ORPHA:99688 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0003355 ORPHA:99688 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0003196 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0000400 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0000581 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0000966 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0001249 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0001250 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0002007 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0002251 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99688 Dermotrichic syndrome HP:0002353 ORPHA:99688 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0000252 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0000924 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0001249 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0005819 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0012758 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0001156 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0001770 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0001999 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0004322 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0005235 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0009778 ORPHA:391646 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0000708 ORPHA:391646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0000739 ORPHA:391646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0000712 ORPHA:391646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:391646 Feingold syndrome type 2 HP:0001629 ORPHA:391646 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0000988 ORPHA:448237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0040186 ORPHA:448237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0000509 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0000989 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0001369 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0001945 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0002315 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0002829 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0002921 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0003326 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0003496 ORPHA:448237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0000969 ORPHA:448237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0001225 ORPHA:448237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0001785 ORPHA:448237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0002013 ORPHA:448237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0012779 ORPHA:448237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0000252 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0000533 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0000612 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0001132 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0001287 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0001511 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0001873 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0001933 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0002383 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0005268 ORPHA:448237 TAS HP:0040284 C ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0006906 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0007131 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0007401 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0007766 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0007814 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0012486 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0012795 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:448237 Zika virus disease HP:0030825 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0000168 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0000171 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0000179 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0000199 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0000218 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0000962 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0001061 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0001072 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0001250 ORPHA:530 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0001332 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0001482 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0001609 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0002015 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0002205 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0002514 ORPHA:530 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0008066 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0011830 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0100582 ORPHA:530 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0100699 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0200034 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0200039 ORPHA:530 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0200043 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:530 Lipoid proteinosis HP:0002293 ORPHA:530 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002073 ORPHA:284324 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0000641 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0000651 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0000657 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0000666 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001152 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001260 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001272 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001310 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001347 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002070 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002136 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002168 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002312 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002355 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002495 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0003487 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0007240 ORPHA:284324 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002174 ORPHA:284324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0003445 ORPHA:284324 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0001250 ORPHA:284324 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0000112 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0000177 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0000286 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0000348 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0000463 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0000960 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0001250 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0001251 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0001339 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0001510 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0001539 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0001561 ORPHA:531 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0001626 ORPHA:531 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0002079 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0002120 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0002353 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0003196 ORPHA:531 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:531 Miller-Dieker syndrome HP:0004209 ORPHA:531 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000857 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0001274 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0001360 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0001511 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0001518 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0011467 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0012443 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0030795 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0031209 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0100801 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0410289 ORPHA:556955 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000218 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000269 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000340 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000369 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000377 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0000601 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0002507 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0006315 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0009658 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0010669 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0010938 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome HP:0012418 ORPHA:556955 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000003 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000028 ORPHA:2075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000037 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000047 ORPHA:2075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000175 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000238 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000252 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000316 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000347 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000369 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000431 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000494 ORPHA:2075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000776 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0001156 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0001162 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0001511 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0001671 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0030680 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0002650 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0002714 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0002808 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0005264 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0008668 ORPHA:2075 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0100016 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2075 Genitopalatocardiac syndrome HP:0100335 ORPHA:2075 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000160 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000218 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000232 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000286 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000316 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000337 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000340 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000343 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000347 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000368 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000490 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000581 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0000995 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0001256 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0001629 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0001643 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0001770 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0001863 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0002002 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0002263 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0002553 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0003196 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0005280 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0005338 ORPHA:261120 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261120 14q11.2 microdeletion syndrome HP:0011344 ORPHA:261120 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0000035 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0000407 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0000823 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0001053 ORPHA:2074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0001249 ORPHA:2074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0001251 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0001347 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0003202 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0003457 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0004322 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0004374 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0007328 ORPHA:2074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2074 Gemignani syndrome HP:0008736 ORPHA:2074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0000478 ORPHA:2073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0000504 ORPHA:2073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0000738 ORPHA:2073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0001279 ORPHA:2073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0001350 ORPHA:2073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0001513 ORPHA:2073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0001262 ORPHA:2073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0002360 ORPHA:2073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0002494 ORPHA:2073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0002524 ORPHA:2073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2073 Narcolepsy type 1 HP:0010534 ORPHA:2073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001433 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001873 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0004380 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0004382 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0004963 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0007957 ORPHA:2072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000238 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000407 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000486 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000496 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000602 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000657 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001249 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001258 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001265 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001347 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001510 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001744 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001761 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001822 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001876 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001903 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002079 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002119 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002206 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0004406 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0025190 ORPHA:2072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000027 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000248 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000508 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000570 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000605 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000767 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000823 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0000974 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001058 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001081 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001085 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001270 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001276 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001395 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001743 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002040 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002070 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002092 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002123 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002136 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002315 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002592 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002619 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0002650 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0003470 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0004326 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0005619 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0006530 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0006689 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0010543 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0011968 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0012389 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0025160 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0025404 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0031364 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0200042 ORPHA:2072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0001880 ORPHA:2070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0001903 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0001974 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0002013 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0002014 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0002015 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0002024 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0002027 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0002570 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0003073 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0003193 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0011024 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0011227 ORPHA:2070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0000969 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0001047 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0001541 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0001824 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0002099 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0002243 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0002573 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2070 Eosinophilic gastroenteritis HP:0003565 ORPHA:2070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002352 ORPHA:542310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002514 ORPHA:542310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0010576 ORPHA:542310 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0000712 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001250 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001251 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001268 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001332 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002135 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002461 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0007229 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0007256 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0007346 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0100320 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0100543 ORPHA:542310 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001257 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001260 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001263 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001288 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001297 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001337 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0001342 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002516 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0007291 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0011153 ORPHA:542310 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0000725 ORPHA:542310 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542310 Leukoencephalopathy with calcifications and cysts HP:0002059 ORPHA:542310 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002589 ORPHA:436252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0004430 ORPHA:436252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0010766 ORPHA:436252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0011100 ORPHA:436252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001511 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001561 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002223 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002721 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0003270 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0005229 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0008070 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0025085 ORPHA:436252 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0000778 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001072 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002293 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002566 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002722 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0005224 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0100592 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0100889 ORPHA:436252 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0000872 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001539 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001629 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0001890 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0002960 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0003765 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0008404 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0010959 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0012115 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:436252 Combined immunodeficiency-enteropathy spectrum HP:0100651 ORPHA:436252 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0000272 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0000303 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0000478 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0000482 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0000504 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0000768 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0000926 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0000939 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0000963 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0000974 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0001252 ORPHA:2078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0001256 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0001263 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0001510 ORPHA:2078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0001582 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0001763 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0001883 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0002650 ORPHA:2078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0002757 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0002827 ORPHA:2078 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0002953 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0003312 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0003510 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0004568 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0004586 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0005692 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0005930 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0007495 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0011849 ORPHA:2078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2078 Geroderma osteodysplastica HP:0100790 ORPHA:2078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000028 ORPHA:2077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000062 ORPHA:2077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000194 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000202 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000218 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000232 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000248 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000268 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000347 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000348 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000364 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000431 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000470 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000486 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000494 ORPHA:2077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000534 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0000664 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0001004 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0001249 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0001252 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0001263 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0001376 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0001636 ORPHA:2077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0001671 ORPHA:2077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0002015 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0002167 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0002375 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0002804 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0004322 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0005280 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0011800 ORPHA:2077 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2077 German syndrome HP:0100490 ORPHA:2077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0000508 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0000577 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001260 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001270 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001284 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001349 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001763 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0002151 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0002166 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0002312 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0002359 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0002380 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0003376 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0003444 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0007178 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0007340 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0009027 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0009055 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0010836 ORPHA:521411 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0001638 ORPHA:521411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0040081 ORPHA:521411 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:526 Liddle syndrome HP:0000083 ORPHA:526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:526 Liddle syndrome HP:0000112 ORPHA:526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:526 Liddle syndrome HP:0000822 ORPHA:526 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:526 Liddle syndrome HP:0001324 ORPHA:526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:526 Liddle syndrome HP:0002019 ORPHA:526 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:526 Liddle syndrome HP:0002637 ORPHA:526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:526 Liddle syndrome HP:0002900 ORPHA:526 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:526 Liddle syndrome HP:0011675 ORPHA:526 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:526 Liddle syndrome HP:0012378 ORPHA:526 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529 Roch-Leri mesosomatous lipomatosis HP:0001482 ORPHA:529 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:529 Roch-Leri mesosomatous lipomatosis HP:0001012 ORPHA:529 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:529 Roch-Leri mesosomatous lipomatosis HP:0000979 ORPHA:529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:529 Roch-Leri mesosomatous lipomatosis HP:0001873 ORPHA:529 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000855 ORPHA:528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0002240 ORPHA:528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0003712 ORPHA:528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0008887 ORPHA:528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0009125 ORPHA:528 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000819 ORPHA:528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000998 ORPHA:528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001249 ORPHA:528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0002155 ORPHA:528 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000158 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000294 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000303 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000336 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000842 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000956 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001015 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001176 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001263 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001394 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001397 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001508 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001635 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001639 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001833 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001999 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0002162 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0003124 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0003247 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0005616 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0008665 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0011407 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0012062 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0001263 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0030796 ORPHA:528 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000141 ORPHA:528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000147 ORPHA:528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0000876 ORPHA:528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:528 Congenital generalized lipodystrophy HP:0010465 ORPHA:528 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0000131 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0000518 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0000989 ORPHA:523 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0002891 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0003011 ORPHA:523 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0006732 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0007437 ORPHA:523 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0007620 ORPHA:523 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0100580 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0100650 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:523 Hereditary leiomyomatosis and renal cell cancer HP:0100751 ORPHA:523 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0000962 ORPHA:525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0000989 ORPHA:525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0001053 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0001059 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0001231 ORPHA:525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0001596 ORPHA:525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0001806 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0002242 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0004334 ORPHA:525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0008066 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0012115 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0100649 ORPHA:525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0100725 ORPHA:525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0200034 ORPHA:525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:525 Lichen planopilaris HP:0200042 ORPHA:525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0002664 ORPHA:524 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0003002 ORPHA:524 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0001909 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0002665 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0002669 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0002859 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0002888 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0006744 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0007378 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0009592 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0012126 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0012174 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0030070 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0030392 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0100006 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0200063 ORPHA:524 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0002861 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0002863 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0002885 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0002890 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0002894 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0003003 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0004808 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0006721 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0009726 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0010788 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0012125 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0012189 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0012288 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0012539 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0100526 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0100605 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0100615 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0100743 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:524 Li-Fraumeni syndrome HP:0100768 ORPHA:524 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000023 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000047 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000126 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000175 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000202 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000235 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000238 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000256 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000269 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000316 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000329 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000347 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000369 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000384 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000431 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000470 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000494 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000501 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000567 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000612 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000648 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000835 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0000921 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001156 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001161 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001195 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001249 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001252 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001263 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001305 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001522 ORPHA:7 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001629 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001631 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001633 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001636 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001642 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001650 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001702 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0001804 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002007 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002020 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002023 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002119 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002167 ORPHA:7 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002205 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002269 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002566 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002650 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002705 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002808 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0002937 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0003196 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0003272 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0004322 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0004383 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0004397 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0005280 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0006101 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0006695 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0006709 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0007360 ORPHA:7 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0008736 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0008872 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:7 3C syndrome HP:0008897 ORPHA:7 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0001945 ORPHA:31205 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0000988 ORPHA:31205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0001369 ORPHA:31205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0002013 ORPHA:31205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0002829 ORPHA:31205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0012282 ORPHA:31205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0001824 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0002014 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0002315 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0002374 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0002840 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0003095 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0003326 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0003418 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0012219 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0025143 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0025145 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0025439 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0040186 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0040189 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0040313 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0100806 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0200039 ORPHA:31205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0001287 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0001701 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0001733 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0001903 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0011850 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0012819 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0025181 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0025230 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31205 Rat-bite fever HP:0100584 ORPHA:31205 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000027 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000028 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000047 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000053 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000054 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000098 ORPHA:8 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000238 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000256 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000272 ORPHA:8 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000316 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000369 ORPHA:8 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000708 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000729 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000735 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000750 ORPHA:8 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000752 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000798 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0000837 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0001249 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0001250 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0001270 ORPHA:8 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0001319 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0001328 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0002099 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0002195 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0002363 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0003251 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0007018 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0007033 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0007642 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0030088 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0012871 ORPHA:8 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0040019 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:8 47,XYY syndrome HP:0100710 ORPHA:8 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0005547 ORPHA:521 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0001744 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0001871 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0001873 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0001894 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0001911 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0001912 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0001945 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0001974 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0004396 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521 Chronic myeloid leukemia HP:0012378 ORPHA:521 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000613 ORPHA:5 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001943 ORPHA:5 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001985 ORPHA:5 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000512 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000572 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000577 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001252 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001263 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001639 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001939 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0002240 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0009830 ORPHA:5 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000488 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000532 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000533 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000545 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000662 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001249 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001250 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001290 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0001508 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0002611 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0007703 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0011968 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0030856 ORPHA:5 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001252 ORPHA:6 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001257 ORPHA:6 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001531 ORPHA:6 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001943 ORPHA:6 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001987 ORPHA:6 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0001992 ORPHA:6 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0002093 ORPHA:6 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0004357 ORPHA:6 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0100022 ORPHA:6 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency HP:0100659 ORPHA:6 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0000225 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0000421 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0000967 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0000978 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0000979 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0001324 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0001824 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0001873 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0001876 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0001882 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0001892 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0001903 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0001945 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0002039 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0002321 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0002875 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0005521 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0012378 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0031020 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0031035 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0031364 ORPHA:520 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0000212 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0001875 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0001974 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0002027 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0002653 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0002716 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0010280 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0011900 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0025420 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0030140 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0030955 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0031245 ORPHA:520 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0000790 ORPHA:520 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0100608 ORPHA:520 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:520 Acute promyelocytic leukemia HP:0100758 ORPHA:520 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0001649 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0001945 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0001974 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0002090 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0002315 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0002829 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0003326 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0010702 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0025143 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0025406 ORPHA:3392 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0000155 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0000988 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0001873 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0001903 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0002098 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0002113 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0002202 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0002716 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0011355 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0012735 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0025289 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0025439 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0030833 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0031983 ORPHA:3392 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0000388 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0000509 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0000707 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0000708 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0001287 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0001289 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0012219 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0030049 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0030953 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0031292 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0100533 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0100721 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:0200026 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3392 Tularemia HP:3000033 ORPHA:3392 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000028 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000047 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000062 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000074 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000160 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000164 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000175 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000218 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000243 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000248 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000252 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000272 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000286 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000316 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000343 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000347 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000369 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000413 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000453 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000463 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000465 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000470 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000486 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000494 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000568 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000574 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000581 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000582 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000639 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000664 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000772 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000776 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0000925 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001162 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001249 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001250 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001252 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001263 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001274 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001276 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001362 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001376 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001816 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0001850 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0002162 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0002553 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0030680 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0002650 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0003196 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0005280 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0006610 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0007477 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0007598 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0008551 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0009623 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0009738 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0009892 ORPHA:261112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261112 Monosomy 9p HP:0100790 ORPHA:261112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000028 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000062 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000215 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000218 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000252 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000286 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000347 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000400 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000431 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001249 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001252 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001263 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001276 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0002060 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0002079 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0002365 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0002380 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0002500 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0003202 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0006955 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0030197 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000054 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000133 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000151 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000582 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000639 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000648 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001250 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001257 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001336 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0001347 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0004305 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0005280 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0008665 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0012856 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0030260 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0030261 ORPHA:284339 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0001945 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0002090 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0011947 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0011949 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0025044 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0031273 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0031864 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0100806 ORPHA:31202 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0001743 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0002758 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0003095 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0012115 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0025059 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0030049 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0031292 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0032162 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0100523 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0100658 ORPHA:31202 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0000024 ORPHA:31202 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0000119 ORPHA:31202 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0000197 ORPHA:31202 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0001886 ORPHA:31202 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31202 Melioidosis HP:0011850 ORPHA:31202 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0000164 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0000286 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0000316 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0000486 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0000582 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0001156 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0001252 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0001263 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0001328 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0001385 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0030680 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0002974 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0004209 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0005692 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0010978 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0100543 ORPHA:9 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:9 Tetrasomy X HP:0008209 ORPHA:9 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0001945 ORPHA:31204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002090 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002094 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002721 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0012378 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0031245 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0031864 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0032016 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0100749 ORPHA:31204 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0000509 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0000620 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0001482 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0001701 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0001824 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002013 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002039 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002097 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002098 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002102 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002105 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002107 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002202 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002315 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002754 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002840 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002878 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0004372 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0011450 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0025143 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0030049 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0030166 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0031246 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0031292 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0032169 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0100523 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0100806 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0200026 ORPHA:31204 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0000491 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0000575 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0000834 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0001250 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0001287 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0001654 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002383 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0002586 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0004302 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0012424 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0045026 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0100532 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0100584 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0100646 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:31204 Nocardiosis HP:0100658 ORPHA:31204 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0000508 ORPHA:2064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0000960 ORPHA:2064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0001387 ORPHA:2064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0003312 ORPHA:2064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0005626 ORPHA:2064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0008368 ORPHA:2064 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000023 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000028 ORPHA:2063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000174 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000189 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000347 ORPHA:2063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000358 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000776 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000951 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0001250 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0001357 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0001385 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0001622 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002023 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002101 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002269 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0030680 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002815 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002817 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002823 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0002991 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0003019 ORPHA:2063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0006283 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0006333 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0006703 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0009804 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0100543 ORPHA:2063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0100559 ORPHA:2063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome HP:0100560 ORPHA:2063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000098 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000154 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000233 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000248 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000311 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000316 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000322 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000347 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000431 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000494 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0000925 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0001072 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0001176 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0001387 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0001999 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0002011 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0002650 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0002653 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0002808 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0002937 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0003306 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0003363 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0005037 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0005108 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0005280 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0012368 ORPHA:2062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2062 Progressive non-infectious anterior vertebral fusion HP:0100777 ORPHA:2062 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002073 ORPHA:284332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0000750 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001257 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001260 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001263 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001272 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001290 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001310 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001347 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0001763 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002136 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002312 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002355 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0003487 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0004322 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0006855 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0007240 ORPHA:284332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002080 ORPHA:284332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000430 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000510 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000529 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001118 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001263 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001999 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0002342 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0004322 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0007675 ORPHA:436245 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000272 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000347 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000369 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000470 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000582 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000689 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000699 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001133 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001156 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0001328 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0002311 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0007010 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0007791 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0007965 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0009907 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0010761 ORPHA:436245 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000400 ORPHA:436245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000494 ORPHA:436245 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0000316 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0000486 ORPHA:2069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0000545 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0000582 ORPHA:2069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0000664 ORPHA:2069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0000995 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0001003 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0001677 ORPHA:2069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0002036 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0004398 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0005280 ORPHA:2069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0005978 ORPHA:2069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2069 Gastrocutaneous syndrome HP:0007565 ORPHA:2069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0001945 ORPHA:542323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0011112 ORPHA:542323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0011117 ORPHA:542323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0012378 ORPHA:542323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0012649 ORPHA:542323 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0001649 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002615 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0003326 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0004396 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0030356 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0030783 ORPHA:542323 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0001289 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002013 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002014 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002018 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002202 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002789 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002904 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002910 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0003259 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0011037 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0011675 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0012418 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0012664 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0012722 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0030005 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0100598 ORPHA:542323 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0000988 ORPHA:542323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0001919 ORPHA:542323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0002878 ORPHA:542323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome HP:0005521 ORPHA:542323 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000232 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000316 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000337 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000343 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000347 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000348 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000369 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000463 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0045075 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000653 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000684 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000974 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0001596 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0002007 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0002234 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0002750 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0004322 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0005280 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0005692 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0007495 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0009891 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0009928 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0011800 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0100540 ORPHA:2067 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000174 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000303 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000501 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000505 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000563 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000765 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000889 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000944 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0001537 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0002644 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0003312 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0010609 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0100659 ORPHA:2067 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000135 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000141 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000365 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000453 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000545 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000639 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000648 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000787 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0000798 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0001028 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0001053 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0001510 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0001555 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0002516 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0002621 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0004331 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2067 GAPO syndrome HP:0100607 ORPHA:2067 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0000093 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0000100 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0000112 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0000164 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0000252 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0000316 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0000347 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0000400 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0000601 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0001181 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0001250 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0001252 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0001263 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0001276 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0001302 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0001511 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0001622 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0002036 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0002269 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0002353 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0002410 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0004322 ORPHA:2065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0004374 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0005108 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0010978 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0100490 ORPHA:2065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0100543 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2065 Galloway-Mowat syndrome HP:0100720 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:517 Acute myelomonocytic leukemia HP:0001873 ORPHA:517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:517 Acute myelomonocytic leukemia HP:0001903 ORPHA:517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:517 Acute myelomonocytic leukemia HP:0001974 ORPHA:517 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:517 Acute myelomonocytic leukemia HP:0000980 ORPHA:517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:517 Acute myelomonocytic leukemia HP:0001824 ORPHA:517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:517 Acute myelomonocytic leukemia HP:0001892 ORPHA:517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:517 Acute myelomonocytic leukemia HP:0002094 ORPHA:517 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:517 Acute myelomonocytic leukemia HP:0000168 ORPHA:517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:517 Acute myelomonocytic leukemia HP:0001880 ORPHA:517 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0002607 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0009763 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0011471 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0011968 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0012531 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0030858 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0031064 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0030051 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0100753 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0002246 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0002576 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0002577 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0012437 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0025013 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0100575 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0006970 ORPHA:512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0012379 ORPHA:512 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0000365 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0000505 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0000649 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0000762 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0001250 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0001251 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0001265 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0001288 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0001324 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0002191 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0002359 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0002376 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0002922 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0003394 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0008947 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0009830 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0030890 ORPHA:512 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0000020 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0000708 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0000709 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0000712 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0000726 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0000751 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0001260 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0001332 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0001337 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0002311 ORPHA:512 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:512 Metachromatic leukodystrophy HP:0100762 ORPHA:512 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0000600 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0001249 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0001250 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0001251 ORPHA:511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0001252 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0001263 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0001315 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0001608 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0002093 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0004374 ORPHA:511 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:511 Maple syrup urine disease HP:0008344 ORPHA:511 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0000253 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0000338 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001249 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001257 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001263 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001272 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001300 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001332 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001337 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0001347 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002059 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002067 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002376 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002465 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002483 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002505 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002650 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0002828 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0003487 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0009062 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0011448 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0012048 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0012407 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0030890 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0032097 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome HP:0100660 ORPHA:521406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0004845 ORPHA:514 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001903 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001974 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0002875 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0012378 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0031020 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0100827 ORPHA:514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001482 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001730 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001785 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001824 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001931 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0001945 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0002039 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0011787 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0012145 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0025289 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0025435 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0100520 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:514 Acute monoblastic/monocytic leukemia HP:0100539 ORPHA:514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000028 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000238 ORPHA:261102 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000729 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000739 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000750 ORPHA:261102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0000776 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0001252 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0001256 ORPHA:261102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0001643 ORPHA:261102 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0004942 ORPHA:261102 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0002308 ORPHA:261102 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0007018 ORPHA:261102 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0007330 ORPHA:261102 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261102 Distal 7q11.23 microduplication syndrome HP:0100835 ORPHA:261102 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0000099 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0000218 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0000303 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0001166 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0001388 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0001519 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0002119 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0002342 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0002942 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0011451 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0012622 ORPHA:2172 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0000763 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0000835 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0000963 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0000974 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0000978 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0001252 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0001297 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0001324 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0001382 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0001634 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0002239 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0002829 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0003202 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0003298 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0003326 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0003701 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0004416 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0005692 ORPHA:230839 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0009830 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0011675 ORPHA:230839 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1 HP:0012378 ORPHA:230839 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0000618 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0001263 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0001511 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0002120 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0008610 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0008897 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0010994 ORPHA:2177 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0000601 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0001250 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0001254 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0001264 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0001287 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0002179 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0006698 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0007023 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0009145 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0010652 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0011328 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0025040 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0025099 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0025258 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0025517 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0410279 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:3000062 ORPHA:2177 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0000533 ORPHA:2177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0000609 ORPHA:2177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0002119 ORPHA:2177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0011451 ORPHA:2177 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0000504 ORPHA:2177 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0001265 ORPHA:2177 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2177 Hydranencephaly HP:0010653 ORPHA:2177 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0000147 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0000212 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0000256 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0000280 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0000470 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0000834 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0000938 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0000939 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0000953 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0001004 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0001025 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0001072 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0001156 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0001252 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0001387 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0001482 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0001508 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0001510 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0002024 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0002028 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0002570 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0002659 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0002718 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0002721 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0002749 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0002757 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0002983 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0003011 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0003510 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0004279 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0006482 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0010515 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0011024 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0011968 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0100490 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0100585 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2176 Infantile systemic hyalinosis HP:0200042 ORPHA:2176 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001249 ORPHA:468678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001263 ORPHA:468678 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000252 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000316 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000505 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000540 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000729 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000750 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000752 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001256 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001513 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001999 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002360 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0004322 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0006863 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0008872 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0008947 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0011024 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0011968 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000160 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000194 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000219 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000248 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000307 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000356 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000407 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000483 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000486 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000510 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000545 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000718 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000733 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001250 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001344 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002020 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002353 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0010864 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0011800 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0012450 ORPHA:468678 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000023 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000081 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000218 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000272 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000297 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000322 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000358 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000455 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000470 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000612 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000618 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000648 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000722 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0000776 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001045 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001272 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001388 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0001627 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002079 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002120 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002188 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002280 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002311 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002373 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002384 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002714 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002870 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0002933 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0005280 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0012110 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0012157 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0012448 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468678 White-Sutton syndrome HP:0100716 ORPHA:468678 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0003477 ORPHA:468661 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0007020 ORPHA:468661 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0000505 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0001123 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0001761 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0002355 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0003445 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0003693 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0007067 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0007083 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0008314 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0009053 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0009072 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0011923 ORPHA:468661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0000648 ORPHA:468661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0003487 ORPHA:468661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0001272 ORPHA:468661 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0002079 ORPHA:468661 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:468661 Autosomal recessive spastic paraplegia type 74 HP:0012762 ORPHA:468661 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000248 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000252 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000286 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000324 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000486 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000582 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000601 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0001156 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0001252 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0001357 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0001360 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0001363 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0002673 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0002750 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0004209 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0004322 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0007703 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0008479 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0009882 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0012745 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0100543 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000028 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000079 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000093 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000161 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000238 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000252 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000256 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000286 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000289 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000316 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000400 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000437 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000453 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000457 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000458 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000463 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000470 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000488 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000490 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000508 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000528 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000567 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000568 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000574 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000581 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000582 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000601 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000612 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000648 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000664 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000776 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000819 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000830 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000871 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000873 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0000929 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001156 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001161 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001250 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001252 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001257 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001263 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001305 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001324 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001332 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001360 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001531 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001539 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001629 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001636 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001641 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001679 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001743 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001883 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001943 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0001999 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002002 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002007 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002019 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002020 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002072 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002084 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002093 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002269 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002553 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002650 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0002902 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0003312 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0004409 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0005469 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0005692 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0006315 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0006703 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0007360 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0007370 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0008501 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0008572 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0008736 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0008872 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0009738 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0009794 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0009804 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0009914 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0009924 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0010301 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0010302 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0010669 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0011100 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0011675 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0012639 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0100336 ORPHA:2162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0100543 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2162 Holoprosencephaly HP:0100596 ORPHA:2162 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000974 ORPHA:230851 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001382 ORPHA:230851 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001653 ORPHA:230851 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001654 ORPHA:230851 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000023 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000486 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000508 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000545 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000678 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000767 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000963 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000978 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001027 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001058 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001075 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001373 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001659 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001763 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001822 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002616 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002816 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002857 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0005180 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0006109 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0006201 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0100807 ORPHA:230851 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000218 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000414 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0000574 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001250 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001263 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001519 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001631 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001634 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001712 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001848 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0001852 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002094 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002342 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002751 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0002944 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0004322 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0010444 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0012378 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0012717 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0031610 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0100550 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome HP:0500041 ORPHA:230851 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0009830 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0012448 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0012704 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0030084 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0100820 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001263 ORPHA:2169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001980 ORPHA:2169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002160 ORPHA:2169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000252 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000478 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001249 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001250 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001252 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001508 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001511 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001972 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002013 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002167 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002329 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002500 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0003658 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0005518 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0007185 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0008897 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0011344 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0011968 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0012444 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0100022 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000238 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000365 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000505 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000639 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000708 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000822 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000924 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000939 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001159 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001254 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001392 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001626 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001875 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001876 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001907 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002119 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0001262 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002365 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002625 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0002650 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0005575 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0006895 ORPHA:2169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0000175 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0000262 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0000368 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0000400 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0000465 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0000772 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0001161 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0005916 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0001195 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0001387 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0001511 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0001562 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0030680 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0040071 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0006703 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0007370 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0008678 ORPHA:2167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0010295 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0010297 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0100016 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2167 Holzgreve syndrome HP:0100569 ORPHA:2167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000028 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000047 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000062 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000160 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000175 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000202 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000238 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000252 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000347 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000368 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000568 ORPHA:2166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000601 ORPHA:2166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000835 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000864 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001162 ORPHA:2166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001252 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001321 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001360 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001537 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001539 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001561 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001671 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0001883 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0002023 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0002084 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0002101 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0030680 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0002566 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0005990 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0007370 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0008678 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0008736 ORPHA:2166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0009914 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0010650 ORPHA:2166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0100542 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0100596 ORPHA:2166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000078 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000083 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000161 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000175 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000252 ORPHA:2165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000316 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000369 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000520 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000924 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0001360 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0001622 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0002818 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0004059 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0009914 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0010662 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0100659 ORPHA:2165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411777 Generalized eruptive keratoacanthoma HP:0000656 ORPHA:411777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411777 Generalized eruptive keratoacanthoma HP:0000989 ORPHA:411777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411777 Generalized eruptive keratoacanthoma HP:0200034 ORPHA:411777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411777 Generalized eruptive keratoacanthoma HP:0000481 ORPHA:411777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411777 Generalized eruptive keratoacanthoma HP:0000509 ORPHA:411777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411777 Generalized eruptive keratoacanthoma HP:0001097 ORPHA:411777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411777 Generalized eruptive keratoacanthoma HP:0001609 ORPHA:411777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411777 Generalized eruptive keratoacanthoma HP:0002015 ORPHA:411777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001511 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002134 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002310 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0003273 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0003548 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0003554 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0003803 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0006466 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0006895 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0011471 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0011968 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0040204 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002151 ORPHA:319514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0200125 ORPHA:319514 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000407 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000639 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001266 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001290 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001324 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002421 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002451 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0002490 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0007069 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0008936 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0010994 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0012448 ORPHA:319514 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000496 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000519 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000762 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0000763 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001273 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001344 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319514 Combined oxidative phosphorylation defect type 13 HP:0001508 ORPHA:319514 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001252 ORPHA:536545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001382 ORPHA:536545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0002751 ORPHA:536545 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000286 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000369 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000494 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000664 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000974 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000978 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000987 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001027 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001030 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001319 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0002194 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0008453 ORPHA:536545 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000023 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000218 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000365 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000407 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000482 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000545 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000592 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000767 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000938 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000963 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001058 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001155 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001166 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001324 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001328 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001342 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001374 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001519 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001537 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001558 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001760 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001762 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001763 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0002355 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0002827 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0003202 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0003834 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0007023 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0007502 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0010727 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0011968 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0025019 ORPHA:536545 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000015 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000276 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000347 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000405 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000422 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000601 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000768 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0000939 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001647 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0001651 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0002650 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0003198 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0003467 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0003994 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0004322 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0004942 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0004976 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome HP:0100309 ORPHA:536545 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000020 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000028 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000047 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000179 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000194 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000232 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000252 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000276 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000303 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000307 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000316 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000358 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000403 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000431 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000437 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000486 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000490 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000506 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000733 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000767 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000768 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001159 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001250 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001274 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001371 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001510 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001627 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001643 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001671 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001763 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001822 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002011 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002079 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002136 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002251 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002342 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002360 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002427 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002607 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002650 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002750 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002857 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0004322 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0004325 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0005274 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0007328 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0009487 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0009765 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0009909 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0010055 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0010511 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0010761 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0010845 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0010862 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0010864 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0011228 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0011229 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0012385 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0012758 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0031936 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0040082 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000003 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000075 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000076 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000077 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000125 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000126 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000212 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000405 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000478 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000480 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000483 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000518 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000545 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000568 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000612 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000639 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000678 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000684 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000687 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000692 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000735 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000739 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001181 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001182 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001251 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001252 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001257 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001320 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001492 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001636 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001642 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001647 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001650 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001680 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001746 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001848 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002013 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002019 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002021 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002119 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002126 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002133 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002335 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002376 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002500 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002540 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002579 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002719 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0003763 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0004313 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0004387 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0006482 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0007042 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0007048 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0007165 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0007270 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0007359 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0010850 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0012081 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0025100 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0025156 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0032046 ORPHA:2152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000034 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000041 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000048 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000054 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000175 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000193 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000407 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0000876 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0001153 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002015 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002757 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0002777 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0004961 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0011326 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0030264 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0410005 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2152 Mowat-Wilson syndrome HP:0410031 ORPHA:2152 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0000615 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0000975 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0001250 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0001657 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0002251 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0004375 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0006747 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome HP:0011675 ORPHA:2151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0002251 ORPHA:2150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0010624 ORPHA:2150 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0001156 ORPHA:2150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0001804 ORPHA:2150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0009650 ORPHA:2150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2150 Hirschsprung disease-type D brachydactyly syndrome HP:0010111 ORPHA:2150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0000708 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0000716 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0000726 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0000737 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0000752 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0001250 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0001251 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0001332 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0001347 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0001824 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0002063 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0002066 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0002067 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0002072 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0002136 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0002500 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0012547 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0030190 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0200147 ORPHA:248111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0001272 ORPHA:248111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0001336 ORPHA:248111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0002073 ORPHA:248111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0002119 ORPHA:248111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:248111 Juvenile Huntington disease HP:0006855 ORPHA:248111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0000343 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0000400 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0000407 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0000431 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0001249 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0001800 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0001943 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0002119 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0002120 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0002750 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0002927 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0005819 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0005844 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2158 Histidinuria-renal tubular defect syndrome HP:0008666 ORPHA:2158 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002720 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002850 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0004313 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0004315 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0004429 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0010975 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0011839 ORPHA:331206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001508 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001888 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001945 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002718 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002743 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002841 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0004385 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0004429 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0031381 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0031402 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0045080 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0200117 ORPHA:331206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0000980 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0000988 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001433 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001873 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001880 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0001890 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002240 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002840 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002910 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002960 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0040089 ORPHA:331206 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2157 Histidinemia HP:0002927 ORPHA:2157 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2157 Histidinemia HP:0010906 ORPHA:2157 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2157 Histidinemia HP:0000708 ORPHA:2157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2157 Histidinemia HP:0000752 ORPHA:2157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2157 Histidinemia HP:0001328 ORPHA:2157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2157 Histidinemia HP:0002167 ORPHA:2157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2157 Histidinemia HP:0011343 ORPHA:2157 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0001829 ORPHA:2155 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0002251 ORPHA:2155 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0000104 ORPHA:2155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0000316 ORPHA:2155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0000407 ORPHA:2155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0001162 ORPHA:2155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome HP:0001249 ORPHA:2155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0002355 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0003198 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0003376 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0003458 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0003557 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0003687 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0003805 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0008180 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0009027 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0009049 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0009058 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0031374 ORPHA:609 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0002312 ORPHA:609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0003731 ORPHA:609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0008994 ORPHA:609 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0008959 ORPHA:609 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0001638 ORPHA:609 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0002878 ORPHA:609 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:609 Tibial muscular dystrophy HP:0009077 ORPHA:609 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0003198 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0003458 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0008954 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0008959 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0009027 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0009077 ORPHA:603 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0002312 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0002355 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0003376 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0003805 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0007149 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0008180 ORPHA:603 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:603 Distal myopathy, Welander type HP:0001638 ORPHA:603 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:606 Proximal myotonic myopathy HP:0000518 ORPHA:606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:606 Proximal myotonic myopathy HP:0002486 ORPHA:606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001260 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001283 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001347 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001430 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001604 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001609 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001611 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0001621 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002015 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002317 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002355 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002460 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002747 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002835 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0003457 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0003738 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0003805 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0005934 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0007354 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0008180 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0008756 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0031374 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0430015 ORPHA:600 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0003547 ORPHA:600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0007149 ORPHA:600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0008049 ORPHA:600 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0000726 ORPHA:600 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0000762 ORPHA:600 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0002936 ORPHA:600 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:600 Vocal cord and pharyngeal distal myopathy HP:0009071 ORPHA:600 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0003805 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0007340 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0008180 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0008963 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0009027 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0012548 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0100299 ORPHA:602 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0000821 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0003376 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0003438 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0003458 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0003547 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0003557 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0006251 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0006467 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0012515 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0030007 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0100284 ORPHA:602 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0001324 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0001436 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0003691 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0003724 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0007210 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0010628 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0040047 ORPHA:602 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0001638 ORPHA:602 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0009077 ORPHA:602 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:602 GNE myopathy HP:0003731 ORPHA:602 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001250 ORPHA:464282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001263 ORPHA:464282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0007020 ORPHA:464282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000316 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000407 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000490 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000545 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000556 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000750 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001249 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001251 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001257 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001260 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001332 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002061 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002123 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002317 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002355 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002515 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002650 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002714 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002808 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002827 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0008936 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0025313 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0031087 ORPHA:464282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000020 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000252 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001513 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002059 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002069 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002079 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0004322 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0008373 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0010219 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0011166 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0011401 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0012762 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001437 ORPHA:464282 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0002380 ORPHA:464282 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3471 Young syndrome HP:0000144 ORPHA:3471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3471 Young syndrome HP:0001732 ORPHA:3471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3471 Young syndrome HP:0002837 ORPHA:3471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3471 Young syndrome HP:0005425 ORPHA:3471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3471 Young syndrome HP:0011962 ORPHA:3471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0009881 ORPHA:3472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0010102 ORPHA:3472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0010107 ORPHA:3472 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000047 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000054 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000188 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000216 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000233 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000268 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000316 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000322 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000331 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000347 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000348 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000369 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000463 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000518 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000520 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000582 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000647 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000653 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000954 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001159 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001167 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001182 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001263 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001274 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001302 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001525 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001629 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001638 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001640 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001831 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001838 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001840 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0002092 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0002139 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0002209 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0002529 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0002696 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0002705 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0004322 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0004331 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0005793 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0005819 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0005989 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0006323 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0006628 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0006709 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0006710 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0007333 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0007633 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0008386 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0008897 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0008935 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0009381 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0009777 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0010035 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0010067 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0010537 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0011061 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0011451 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0012294 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000377 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0040163 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0045075 ORPHA:3472 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000028 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000059 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000162 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000238 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000365 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000568 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000773 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0000822 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001321 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001561 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001631 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001789 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001920 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0002021 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0002827 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0003015 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0004993 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0006713 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0008665 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0010880 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0012809 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0030816 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0100817 ORPHA:3472 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3472 Yunis-Varon syndrome HP:0001636 ORPHA:3472 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0000008 ORPHA:2141 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0000776 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0000782 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0001539 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0002089 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0002814 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0002817 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0002823 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0004209 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0004331 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0006101 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0006492 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0006495 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0006501 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0006507 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0100560 ORPHA:2141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0001875 ORPHA:51636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0001888 ORPHA:51636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0011992 ORPHA:51636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0031020 ORPHA:51636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0031160 ORPHA:51636 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0002090 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0002718 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0002788 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0004313 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0006532 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0011947 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0012740 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0200043 ORPHA:51636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0000246 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0000388 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0001636 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0002070 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0002110 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0002167 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0002172 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0002244 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0007010 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0025439 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0030079 ORPHA:51636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0000166 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0001045 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0001250 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0001287 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0002840 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0011850 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0012056 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0100658 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0100750 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51636 WHIM syndrome HP:0100806 ORPHA:51636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2140 Congenital diaphragmatic hernia HP:0000776 ORPHA:2140 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2140 Congenital diaphragmatic hernia HP:0000884 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2140 Congenital diaphragmatic hernia HP:0002089 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2140 Congenital diaphragmatic hernia HP:0002098 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2140 Congenital diaphragmatic hernia HP:0002566 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2140 Congenital diaphragmatic hernia HP:0010315 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2140 Congenital diaphragmatic hernia HP:0012418 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2140 Congenital diaphragmatic hernia HP:0030680 ORPHA:2140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2149 Nodular neuronal heterotopia HP:0001250 ORPHA:2149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2149 Nodular neuronal heterotopia HP:0002269 ORPHA:2149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2149 Nodular neuronal heterotopia HP:0002353 ORPHA:2149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0000708 ORPHA:2148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0001250 ORPHA:2148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002463 ORPHA:2148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0100543 ORPHA:2148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0001302 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0001371 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002197 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0003808 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0007015 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0012469 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0012672 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0031882 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0007359 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0100021 ORPHA:2148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0000713 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0000729 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0000737 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002015 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002079 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002339 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002521 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002650 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0002835 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0005484 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0006956 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0008872 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0012448 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0012520 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0012762 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0200134 ORPHA:2148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000175 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000248 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000262 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000272 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000316 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000347 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000444 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000465 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000772 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0000795 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0001156 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0001171 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0001363 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0001511 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0001562 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0002983 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0003196 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0004322 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0006101 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0006703 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0008551 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0009738 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0010935 ORPHA:2145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2145 Craniosynostosis, Herrmann-Opitz type HP:0100543 ORPHA:2145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000093 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000130 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000256 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000260 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000316 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000337 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000349 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000358 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000407 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000494 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000520 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000529 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000541 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000545 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000556 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000612 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000776 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0000813 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0001249 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0001250 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0001263 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0001537 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0001539 ORPHA:2143 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0001629 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0002566 ORPHA:2143 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0003196 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0005280 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2143 Donnai-Barrow syndrome HP:0007370 ORPHA:2143 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000169 ORPHA:3473 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000154 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000414 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000445 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001249 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001382 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001804 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001817 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0002265 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0004554 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0009102 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0009894 ORPHA:3473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000158 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000175 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000193 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000218 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000316 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000347 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000470 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000494 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000506 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000518 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000527 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000574 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000668 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000811 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000977 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001250 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001510 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001744 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001761 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001763 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001822 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0002219 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0002240 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0008947 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0011069 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0030680 ORPHA:3473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0000407 ORPHA:3473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0001869 ORPHA:3473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0006191 ORPHA:3473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0006391 ORPHA:3473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3473 Zimmermann-Laband syndrome HP:0007440 ORPHA:3473 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000098 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000164 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000248 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000286 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000316 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000322 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000356 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000365 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000457 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000480 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000486 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000508 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000668 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000691 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0001249 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0006482 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0006709 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0007477 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0008064 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0010783 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0012471 ORPHA:3474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000175 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000582 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0001250 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0001636 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0001669 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0001773 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0004279 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0005930 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0006660 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0007957 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0009767 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0010173 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0010882 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0011069 ORPHA:3474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000077 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000126 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000717 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0000962 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0008070 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0001629 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0002120 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0002213 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0002488 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0002797 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0002827 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0100760 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3474 CHIME syndrome HP:0200042 ORPHA:3474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000233 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000343 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000490 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000924 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001156 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001249 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001263 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001999 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0004689 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0008947 ORPHA:464288 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000028 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000212 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000316 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000457 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000463 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000470 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000486 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000964 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001250 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001256 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001328 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001513 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0010864 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0011220 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0012368 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0012443 ORPHA:464288 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000076 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000089 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000252 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000278 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000384 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000407 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000589 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000592 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000620 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000818 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000852 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0001601 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0002079 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0002342 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0003065 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0007074 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0010535 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0011968 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0031938 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000938 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000974 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000978 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001373 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001382 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001582 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001760 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001763 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001765 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001822 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0031158 ORPHA:536532 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001537 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001634 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001999 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002827 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002933 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0004976 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0007457 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0025509 ORPHA:536532 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000023 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000028 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000189 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000218 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000347 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000400 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000465 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000483 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000486 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000545 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000692 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000704 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000767 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000819 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0000960 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001097 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001166 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001252 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001263 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001270 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001488 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001596 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001698 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001780 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0001852 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002155 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002616 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002619 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002751 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002808 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0002943 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0003042 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0003834 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0003994 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0006243 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0006439 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0006480 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0008138 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0009938 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0010810 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0010829 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0025232 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0100546 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2 HP:0100658 ORPHA:536532 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000076 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000085 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000218 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000233 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000238 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000252 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000286 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000316 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000319 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000347 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000348 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000384 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000486 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000506 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000582 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000664 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0000750 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0001252 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0001263 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0001274 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0001510 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0001671 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0002007 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0002069 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0002119 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0002263 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0002566 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0002650 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0004322 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0004422 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0005487 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0007766 ORPHA:238769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238769 1q44 microdeletion syndrome HP:0010864 ORPHA:238769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0025637 ORPHA:284388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0030907 ORPHA:284388 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002076 ORPHA:284388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002331 ORPHA:284388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0410263 ORPHA:284388 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0000613 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0000622 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0001289 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0001342 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0001892 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002013 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002138 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002140 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002183 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002326 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002352 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0004302 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0004944 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0009145 ORPHA:284388 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0001250 ORPHA:284388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0002181 ORPHA:284388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0012158 ORPHA:284388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0030746 ORPHA:284388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284388 Reversible cerebral vasoconstriction syndrome HP:0100309 ORPHA:284388 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000519 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001250 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001508 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002342 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002521 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002910 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0008947 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0010864 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0012758 ORPHA:86309 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000252 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000483 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000486 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000510 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000577 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000639 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000648 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000662 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000717 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000718 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000750 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000939 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000998 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001072 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001166 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001265 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001276 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001317 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001321 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001371 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001657 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001903 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001976 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002079 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002089 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002120 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002123 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002170 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002240 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002283 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002650 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0003186 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0003429 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0004855 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0009062 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0009125 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0010781 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0010845 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0011097 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0011153 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0011968 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0012050 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0012385 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0012512 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0025534 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0030084 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0030213 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0200134 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0410263 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0000365 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001251 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001337 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001344 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001558 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0001989 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002304 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002401 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0002540 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0012168 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:86309 DPAGT1-CDG HP:0012172 ORPHA:86309 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0000508 ORPHA:230800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0000651 ORPHA:230800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0001324 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0002015 ORPHA:230800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0002019 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0002094 ORPHA:230800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0002747 ORPHA:230800 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0003470 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0006597 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0006824 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0011499 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:230800 Toxin-mediated infectious botulism HP:0100021 ORPHA:230800 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0100661 ORPHA:221091 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0000716 ORPHA:221091 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0012199 ORPHA:221091 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0012533 ORPHA:221091 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0000183 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0000740 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0002465 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0003401 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0003474 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0004948 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0011968 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0200025 ORPHA:221091 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0001293 ORPHA:221091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0002664 ORPHA:221091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0007305 ORPHA:221091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0011096 ORPHA:221091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221091 Trigeminal neuralgia HP:0200026 ORPHA:221091 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000008 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000022 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000028 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000046 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000047 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000048 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000062 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000130 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000144 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0000147 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0008736 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0010459 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0012856 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2138 46,XX ovotesticular disorder of sex development HP:0100779 ORPHA:2138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0003237 ORPHA:2137 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0010702 ORPHA:2137 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0002910 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0003262 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0003453 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0003493 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0030908 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0030909 ORPHA:2137 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0000716 ORPHA:2137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0002027 ORPHA:2137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0002829 ORPHA:2137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0012432 ORPHA:2137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0012522 ORPHA:2137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0000099 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0000739 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0000952 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0001045 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0001369 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0001394 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0001541 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0001744 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0002037 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0002239 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0003573 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0006555 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0030991 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0100279 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0100646 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0200119 ORPHA:2137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0001402 ORPHA:2137 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0004787 ORPHA:2137 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2137 Autoimmune hepatitis HP:0006562 ORPHA:2137 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000316 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000369 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000431 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000684 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001004 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001249 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001530 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001888 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001999 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0002024 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0004313 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0005280 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0006482 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0008572 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0009804 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0011069 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0012368 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0100764 ORPHA:2136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000212 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000286 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000337 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000501 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000774 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001055 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001250 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001541 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001744 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0002205 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0002716 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0011830 ORPHA:2136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000085 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000086 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000160 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000278 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000322 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0000405 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001302 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001363 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001698 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001760 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0001789 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0002021 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0002093 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0002215 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0002901 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0006101 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0006521 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0010310 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0100026 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0100490 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2136 Hennekam syndrome HP:0100835 ORPHA:2136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000179 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000218 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000325 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000648 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000989 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0001000 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0001249 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0001252 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0001284 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0001508 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0002090 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0002093 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0002119 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0002615 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0002650 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0004322 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0008551 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0011344 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0012378 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0100559 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0200034 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000252 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000270 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000336 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000347 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000365 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000405 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000431 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000445 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000520 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000582 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000737 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000924 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0001025 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0001072 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0001250 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0001482 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0002013 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0002027 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0003189 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0004209 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0007400 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0007440 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0010783 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0011675 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0012733 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0100326 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0100490 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0100495 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0100585 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0100725 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2135 Hennekam-Beemer syndrome HP:0200037 ORPHA:2135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000135 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000153 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000232 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000239 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000252 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000365 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000684 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000819 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000855 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000873 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000924 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0001249 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0001508 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0001597 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0001620 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0001943 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0001956 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0001999 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0002213 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0002721 ORPHA:181393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0002750 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0003124 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0004322 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0005978 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0008736 ORPHA:181393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0000093 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0000790 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0001871 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0001873 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0001919 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0001937 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0001939 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0045040 ORPHA:2134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0004431 ORPHA:2134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0005339 ORPHA:2134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0005356 ORPHA:2134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0005416 ORPHA:2134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2134 Atypical hemolytic uremic syndrome HP:0040229 ORPHA:2134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0000716 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0000739 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0001293 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0030164 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0030766 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0030811 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0032148 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0200025 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:3000047 ORPHA:221098 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0000174 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0001250 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0001279 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0001605 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0001609 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0001662 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0001824 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0002315 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0002617 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0002664 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0002960 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0003319 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0004395 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0007099 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0011968 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0012534 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0012534 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0032043 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0100008 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221098 Glossopharyngeal neuralgia HP:0200136 ORPHA:221098 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0004840 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0010972 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0011902 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0020059 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0025066 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0032231 ORPHA:2133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0011905 ORPHA:2133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0001511 ORPHA:2133 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0001622 ORPHA:2133 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0001744 ORPHA:2133 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0004817 ORPHA:2133 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0005546 ORPHA:2133 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2133 Hemoglobin E disease HP:0005268 ORPHA:2133 TAS HP:0040284 C ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002579 ORPHA:2131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0011024 ORPHA:2131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0012194 ORPHA:2131 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000565 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000577 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000639 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000708 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000750 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000980 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001249 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001250 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001251 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001332 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001508 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002013 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002014 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002015 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002019 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002039 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002273 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0003270 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0011499 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0012332 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0012547 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0012758 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0031284 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0200136 ORPHA:2131 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000297 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000348 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000657 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000712 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000718 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0000975 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001252 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001260 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001266 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001284 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001337 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001347 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001944 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002063 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002069 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002072 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002098 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002104 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002133 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002263 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002315 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002344 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002483 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002714 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002835 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0005135 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0007166 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0007256 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0011153 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0031546 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0031931 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0032649 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0045074 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0100710 ORPHA:2131 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0001638 ORPHA:2131 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0011675 ORPHA:2131 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0002353 ORPHA:2131 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2131 Alternating hemiplegia of childhood HP:0410263 ORPHA:2131 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0000407 ORPHA:71289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0001385 ORPHA:71289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0002974 ORPHA:71289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0004209 ORPHA:71289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0004859 ORPHA:71289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0006101 ORPHA:71289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000010 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000026 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000079 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000112 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000135 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000407 ORPHA:3463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000501 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000602 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000639 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000648 ORPHA:3463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000708 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000726 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000738 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000819 ORPHA:3463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000823 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0000873 ORPHA:3463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0001249 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0001250 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0001251 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0001260 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0001387 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0001638 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0001903 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0001959 ORPHA:3463 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0002019 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0002024 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0002093 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0002120 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0002239 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0002360 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0002376 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0012332 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0002592 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0002871 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0003198 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0008872 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0009830 ORPHA:3463 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0100016 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3463 Wolfram syndrome HP:0100518 ORPHA:3463 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000013 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000054 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000135 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000411 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000821 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000823 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000824 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000831 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000842 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000938 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0001256 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0001260 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0001266 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0001268 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0001332 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0001510 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0008209 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0001596 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0002750 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0003077 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0005135 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0008214 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0040171 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0008619 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0008669 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0008697 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0008734 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0010464 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0100840 ORPHA:3464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000325 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000448 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000674 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000709 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0000738 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3464 Woodhouse-Sakati syndrome HP:0040189 ORPHA:3464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3465 Worster-Drought syndrome HP:0000252 ORPHA:3465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3465 Worster-Drought syndrome HP:0000407 ORPHA:3465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3465 Worster-Drought syndrome HP:0001250 ORPHA:3465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3465 Worster-Drought syndrome HP:0001291 ORPHA:3465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3465 Worster-Drought syndrome HP:0001347 ORPHA:3465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3465 Worster-Drought syndrome HP:0002167 ORPHA:3465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3465 Worster-Drought syndrome HP:0002445 ORPHA:3465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3465 Worster-Drought syndrome HP:0100543 ORPHA:3465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0003537 ORPHA:3467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0011935 ORPHA:3467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0000791 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0000804 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0002932 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0003534 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0003643 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0010933 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0010934 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0011814 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0020074 ORPHA:3467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0000010 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0000126 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0000790 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0001370 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0001919 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0003040 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0003198 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0004396 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0012432 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0030157 ORPHA:3467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3467 Hereditary xanthinuria HP:0001997 ORPHA:3467 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0000154 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0000311 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0000368 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0000414 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0000823 ORPHA:2139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0001250 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0001263 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0001513 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0002002 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2139 Hernández-Aguirre Negrete syndrome HP:0002353 ORPHA:2139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0002023 ORPHA:3469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0005288 ORPHA:3469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0002818 ORPHA:3469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0000601 ORPHA:3469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0001561 ORPHA:3469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0001629 ORPHA:3469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0000160 ORPHA:3469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0000252 ORPHA:3469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0000568 ORPHA:3469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0000600 ORPHA:3469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0000811 ORPHA:3469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3469 XK aprosencephaly syndrome HP:0001631 ORPHA:3469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001371 ORPHA:536516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001382 ORPHA:536516 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001270 ORPHA:536516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003324 ORPHA:536516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003557 ORPHA:536516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0025335 ORPHA:536516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0031936 ORPHA:536516 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000347 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000545 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000592 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000767 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000974 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000977 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0000980 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001058 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001181 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001182 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001252 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001284 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001319 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001508 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001601 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001762 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0001763 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002650 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002705 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002751 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002803 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002808 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002828 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0002987 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003044 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003199 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003307 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003546 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0003701 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0005879 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0005988 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0006380 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0006466 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0008180 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0008366 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0008780 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0009473 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0010499 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0010862 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0030319 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0030051 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0032152 ORPHA:536516 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000154 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000219 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000273 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000322 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000337 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000455 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000484 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000486 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000752 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0001263 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002121 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002213 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002465 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002500 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0008947 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0010864 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0012448 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0100807 ORPHA:363686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000047 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000218 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000286 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000316 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000347 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000483 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000490 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000582 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000609 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000629 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000637 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000729 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000742 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000744 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000748 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0001388 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0001511 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0001566 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002007 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002061 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002360 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0002546 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0005280 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0008770 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0009836 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0010511 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0011968 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0012450 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0045025 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0100033 ORPHA:363686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0000488 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0001138 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002069 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002151 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002180 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002283 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002370 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002416 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002490 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002579 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0002922 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0003739 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0003808 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0011344 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0011451 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0011923 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0011924 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0012332 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0012448 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0030884 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0040078 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478029 Combined oxidative phosphorylation defect type 29 HP:0100275 ORPHA:478029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000028 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000219 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000336 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000347 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000455 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000490 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000574 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000712 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000771 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0001182 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0001249 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0001263 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0001761 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0001763 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0001773 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0001956 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0001999 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0002465 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0004322 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0008551 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0010620 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0200055 ORPHA:3459 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000044 ORPHA:3459 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0001250 ORPHA:3459 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0001328 ORPHA:3459 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000518 ORPHA:3459 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0000540 ORPHA:3459 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3459 Wilson-Turner syndrome HP:0009909 ORPHA:3459 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0001824 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0002664 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0010787 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0012378 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0031459 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0100527 ORPHA:2126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0000016 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0000290 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0000651 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0001943 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0001945 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0001988 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0002019 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0002585 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0002896 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0003419 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0004375 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0004912 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0007185 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0008775 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0010784 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0012125 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0030166 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0030795 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0031501 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0040216 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0045026 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0100526 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma HP:0100650 ORPHA:2126 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:295036 Congenital patella dislocation HP:0002999 ORPHA:295036 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:295036 Congenital patella dislocation HP:0002355 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:295036 Congenital patella dislocation HP:0002829 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:295036 Congenital patella dislocation HP:0002857 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:295036 Congenital patella dislocation HP:0003066 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:295036 Congenital patella dislocation HP:0003326 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:295036 Congenital patella dislocation HP:0006380 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:295036 Congenital patella dislocation HP:0009787 ORPHA:295036 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0000083 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0000142 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0000929 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001541 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001561 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001608 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001622 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001643 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001789 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001873 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001903 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001928 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0001939 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0002240 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0030680 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0003072 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0007461 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0008678 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2123 Diffuse neonatal hemangiomatosis HP:0100761 ORPHA:2123 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3451 Infantile spasms syndrome HP:0001336 ORPHA:3451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3451 Infantile spasms syndrome HP:0002376 ORPHA:3451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3451 Infantile spasms syndrome HP:0002521 ORPHA:3451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3451 Infantile spasms syndrome HP:0012469 ORPHA:3451 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3451 Infantile spasms syndrome HP:0000707 ORPHA:3451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3451 Infantile spasms syndrome HP:0011121 ORPHA:3451 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0000238 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0000520 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0000554 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0000716 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0000821 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0000855 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001250 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001251 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001324 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001336 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001369 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001658 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001701 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001744 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001903 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001945 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0001959 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002014 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002024 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002027 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002039 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002093 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002102 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002239 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002240 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002360 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002376 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002383 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002516 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002615 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002829 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0002902 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0003326 ORPHA:3452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0004326 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0006824 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0007256 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0007440 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0009830 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0010741 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0012378 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0012735 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0012819 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0100614 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0100639 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0100721 ORPHA:3452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0100749 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3452 Whipple disease HP:0100829 ORPHA:3452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0000505 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0000518 ORPHA:3453 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0000613 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0000829 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0001053 ORPHA:3453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0001231 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0003118 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0001596 ORPHA:3453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0002514 ORPHA:3453 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0002728 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0002960 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0004319 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0007759 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0008207 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0008221 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0100530 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3453 Autoimmune polyendocrinopathy type 1 HP:0100659 ORPHA:3453 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0000486 ORPHA:3454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0000496 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0000508 ORPHA:3454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0000657 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0001256 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0001263 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0001376 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0002167 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0002650 ORPHA:3454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0002808 ORPHA:3454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0003693 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0004209 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0005745 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome HP:0100022 ORPHA:3454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000160 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000219 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000272 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000278 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000292 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000307 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000316 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000322 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000325 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000337 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000358 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000444 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000490 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000582 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000621 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000695 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008070 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001043 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001511 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001533 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002007 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002209 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002714 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000444 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0004322 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0004482 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0004492 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0005328 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003758 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008846 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0009059 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100578 ORPHA:3455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000028 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000044 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000126 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000164 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000238 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000267 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000364 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000369 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000403 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000518 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000540 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000545 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000598 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000664 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000668 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000824 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000870 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000938 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000956 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000963 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001007 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001257 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001263 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001276 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001289 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001382 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001385 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001397 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001508 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001510 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001581 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001945 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002078 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002155 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002342 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002415 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002509 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002684 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002751 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003097 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003326 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003429 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003712 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0005792 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0006470 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0006480 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0007957 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008070 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008386 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008476 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0009003 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0010511 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0010648 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0011410 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0011819 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0011968 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0012811 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100490 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100678 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100769 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100807 ORPHA:3455 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000010 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000076 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000387 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000463 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000580 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000639 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000648 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000771 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000946 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001250 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001251 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001274 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001321 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001337 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001601 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0001642 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002126 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0002345 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0003413 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0004691 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0007099 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000580 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008469 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0008479 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0010994 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0030265 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0100581 ORPHA:3455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000047 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000592 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0000836 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0005164 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0005978 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0007766 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0025134 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0030001 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0030088 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3455 Wiedemann-Rautenstrauch syndrome HP:0045017 ORPHA:3455 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0000324 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0000465 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0000470 ORPHA:3456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0000538 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0001132 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0002162 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0002435 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0002949 ORPHA:3456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0008527 ORPHA:3456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0010628 ORPHA:3456 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3456 Wildervanck syndrome HP:0006897 ORPHA:3456 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0002500 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0002060 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000238 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0011450 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0001250 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0025315 ORPHA:447788 TAS HP:0040283 M ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0002180 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0100021 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0010794 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0001249 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000252 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0007009 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000486 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000539 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000639 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0012796 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000543 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0001141 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0025405 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0007772 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0001123 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000736 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0007018 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000729 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0002312 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000496 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0001622 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0002140 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0001998 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0002170 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0032046 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0001287 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0002383 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0012443 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0410263 ORPHA:447788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0030800 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0500049 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000609 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000648 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000641 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447788 Cerebral visual impairment HP:0000657 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0000023 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0000028 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0000164 ORPHA:2128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0000324 ORPHA:2128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0001256 ORPHA:2128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0001528 ORPHA:2128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0001555 ORPHA:2128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0002475 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0030680 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0002650 ORPHA:2128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0002667 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2128 Isolated hemihyperplasia HP:0007328 ORPHA:2128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0001824 ORPHA:103910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0002014 ORPHA:103910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0002243 ORPHA:103910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0003073 ORPHA:103910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0011012 ORPHA:103910 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0000969 ORPHA:103910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0001944 ORPHA:103910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0002573 ORPHA:103910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0003270 ORPHA:103910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103910 Congenital enterocyte heparan sulfate deficiency HP:0010876 ORPHA:103910 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0000473 ORPHA:71272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0002020 ORPHA:71272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0002457 ORPHA:71272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0002533 ORPHA:71272 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0001903 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0002036 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0002248 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0004637 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0011968 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0012547 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0100633 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0410019 ORPHA:71272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71272 Sandifer syndrome HP:0002572 ORPHA:71272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0000093 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0000790 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0001920 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0002619 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0011934 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0012871 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0030157 ORPHA:71273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0001903 ORPHA:71273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0002907 ORPHA:71273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0012378 ORPHA:71273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0100677 ORPHA:71273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0000789 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0001278 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0001279 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0001649 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0001824 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0002018 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0002027 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0012332 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0030016 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71273 Renal nutcracker syndrome HP:0100607 ORPHA:71273 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0000539 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0000551 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0000613 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0007803 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0012043 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0030465 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0030584 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0030620 ORPHA:49382 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0000540 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0000545 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0000603 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0007663 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0007750 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0030825 ORPHA:49382 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0001103 ORPHA:49382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0007695 ORPHA:49382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0007814 ORPHA:49382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0007843 ORPHA:49382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0025549 ORPHA:49382 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:49382 Achromatopsia HP:0007722 ORPHA:49382 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0001273 ORPHA:221074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0004395 ORPHA:221074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0030955 ORPHA:221074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0100503 ORPHA:221074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0001259 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0001260 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0001288 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002066 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002315 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002354 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002509 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0007185 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0007305 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0100543 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0100851 ORPHA:221074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000020 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000504 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000602 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000639 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000651 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000708 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000709 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000716 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000718 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000726 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000741 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0000746 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0001250 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0001251 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0001262 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0001269 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0001289 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002013 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002063 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002134 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002186 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002273 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002300 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002321 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002367 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002381 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002476 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0002922 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0007256 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0010522 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0010526 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0010628 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0030784 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0031258 ORPHA:221074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221074 Marchiafava-Bignami disease HP:0001945 ORPHA:221074 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0005213 ORPHA:103918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0005236 ORPHA:103918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0410019 ORPHA:103918 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0002018 ORPHA:103918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0008205 ORPHA:103918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0030992 ORPHA:103918 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0000952 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0001824 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0002013 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0004395 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0006725 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103918 Tropical pancreatitis HP:0009800 ORPHA:103918 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000206 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000230 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000478 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000486 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000504 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000613 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000639 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000712 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000738 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000739 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000988 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0000992 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0001053 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0001249 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0001250 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0001251 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0001252 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0001263 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0001347 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0002024 ORPHA:2116 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0002076 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0002353 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0002383 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0004322 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0007400 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0008066 ORPHA:2116 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0008353 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2116 Hartnup disease HP:0012086 ORPHA:2116 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3448 Weaver-Williams syndrome HP:0000160 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3448 Weaver-Williams syndrome HP:0000175 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3448 Weaver-Williams syndrome HP:0000252 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3448 Weaver-Williams syndrome HP:0000411 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3448 Weaver-Williams syndrome HP:0002342 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3448 Weaver-Williams syndrome HP:0004325 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3448 Weaver-Williams syndrome HP:0010864 ORPHA:3448 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000003 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000028 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000047 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000160 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000218 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000252 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000275 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000276 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000307 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000411 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000518 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000601 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0000689 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0001053 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0001166 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0001249 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0001250 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0001508 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0001511 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0002120 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0002644 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0002650 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0002808 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0003043 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0003189 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2115 Harrod syndrome HP:0005692 ORPHA:2115 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0000501 ORPHA:3449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0000518 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0000572 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0001072 ORPHA:3449 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0001083 ORPHA:3449 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0001156 ORPHA:3449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0001256 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0001376 ORPHA:3449 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0001629 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0001642 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0001650 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0001653 ORPHA:3449 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0030680 ORPHA:3449 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0004322 ORPHA:3449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0009778 ORPHA:3449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3449 Weill-Marchesani syndrome HP:0011003 ORPHA:3449 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0001385 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0002650 ORPHA:2114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0002758 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0002808 ORPHA:2114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0002812 ORPHA:2114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0004348 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0005930 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0006429 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0009107 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0010574 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2114 Hip dysplasia, Beukes type HP:0011849 ORPHA:2114 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103909 Trehalase deficiency HP:0012379 ORPHA:103909 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103909 Trehalase deficiency HP:0000118 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103909 Trehalase deficiency HP:0002013 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103909 Trehalase deficiency HP:0002014 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103909 Trehalase deficiency HP:0002024 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103909 Trehalase deficiency HP:0002027 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103909 Trehalase deficiency HP:0003270 ORPHA:103909 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2111 Cystic hamartoma of lung and kidney HP:0000003 ORPHA:2111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2111 Cystic hamartoma of lung and kidney HP:0000822 ORPHA:2111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2111 Cystic hamartoma of lung and kidney HP:0002093 ORPHA:2111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2111 Cystic hamartoma of lung and kidney HP:0002205 ORPHA:2111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2111 Cystic hamartoma of lung and kidney HP:0002206 ORPHA:2111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2110 Hallux varus-preaxial polysyndactyly syndrome HP:0001852 ORPHA:2110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2110 Hallux varus-preaxial polysyndactyly syndrome HP:0004209 ORPHA:2110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0000183 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0001260 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0001288 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0001618 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0002015 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0005216 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0007325 ORPHA:412217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0000158 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0001250 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0001272 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0002059 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0002317 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0002425 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0007327 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0007885 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0008777 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0012048 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0012087 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0012088 ORPHA:412217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0000212 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0000739 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0001263 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0001336 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412217 Dystonia-aphonia syndrome HP:0100543 ORPHA:412217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000130 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000142 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000153 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000159 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000202 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000271 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000365 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000405 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000426 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000430 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000431 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000478 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000504 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000506 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000508 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000534 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000632 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0000664 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0001000 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0001053 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0001100 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0001999 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0002211 ORPHA:3440 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0002216 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0002251 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0002475 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0005214 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0005599 ORPHA:3440 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0011024 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3440 Waardenburg syndrome HP:0100811 ORPHA:3440 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000322 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000407 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000426 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000684 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000703 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000926 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000939 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0001256 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0001999 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0004322 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0010579 ORPHA:71267 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002187 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0006829 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0008277 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0012301 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0012736 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0032098 ORPHA:468699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0000486 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0001250 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0001272 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0001531 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002120 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002421 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002540 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0004322 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0025405 ORPHA:468699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0000365 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0000369 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0000483 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0000540 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0000639 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0000938 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0001332 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0001347 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0001363 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0001392 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002119 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002465 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002490 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002521 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002719 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002882 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002928 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0002987 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0006380 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0006558 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0008314 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0008347 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0008873 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0009826 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0010621 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468699 SLC39A8-CDG HP:0012368 ORPHA:468699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0011274 ORPHA:319552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0032283 ORPHA:319552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0030782 ORPHA:319552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0005661 ORPHA:319552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0005401 ORPHA:319552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0007408 ORPHA:319552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0002840 ORPHA:319552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0002090 ORPHA:319552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0002721 ORPHA:319552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0020087 ORPHA:319552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0200029 ORPHA:319552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0002742 ORPHA:319552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0032256 ORPHA:319552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0032249 ORPHA:319552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0020105 ORPHA:319552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001250 ORPHA:95232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0006891 ORPHA:95232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0012469 ORPHA:95232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0000253 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001273 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001302 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002079 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002119 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002389 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002421 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002445 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002463 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0007772 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0008936 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0010850 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0010864 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0011968 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0012520 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0012758 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0020191 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0025336 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0031882 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0032398 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0200134 ORPHA:95232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001256 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001319 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001561 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002123 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002179 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002187 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002376 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002384 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002521 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0003265 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0007270 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0010818 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0010819 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0011153 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0011201 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0011951 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0020189 ORPHA:95232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0001320 ORPHA:95232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002478 ORPHA:95232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0002650 ORPHA:95232 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002064 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002174 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002344 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002464 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002493 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002505 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0003487 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0007083 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0007178 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0007240 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0007350 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0001761 ORPHA:447757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0000519 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0000726 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0001252 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002020 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0002987 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0003438 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0003477 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0004373 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447757 Autosomal dominant spastic paraplegia type 9B HP:0006827 ORPHA:447757 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0000519 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0000600 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0000615 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0001334 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0001561 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0001622 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0001638 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0001706 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0002093 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0008046 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0011675 ORPHA:2119 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2119 HEC syndrome HP:0100673 ORPHA:2119 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2118 Hawkinsinuria HP:0000821 ORPHA:2118 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2118 Hawkinsinuria HP:0001252 ORPHA:2118 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2118 Hawkinsinuria HP:0001508 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2118 Hawkinsinuria HP:0001942 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2118 Hawkinsinuria HP:0002213 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2118 Hawkinsinuria HP:0003161 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2118 Hawkinsinuria HP:0003607 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2118 Hawkinsinuria HP:0008070 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2118 Hawkinsinuria HP:0010917 ORPHA:2118 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000023 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000028 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000098 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000256 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000278 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000311 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000316 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000337 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000343 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000347 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000368 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000400 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000494 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0000944 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001176 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001231 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001249 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001257 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001263 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001276 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001387 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001582 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001609 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001761 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001762 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001769 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001800 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001814 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001816 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0001852 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0002002 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0002213 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0030680 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0002650 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0005616 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0005692 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0006101 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0008736 ORPHA:3447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0008872 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0010300 ORPHA:3447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0011304 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3447 Weaver syndrome HP:0100490 ORPHA:3447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0000175 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0000316 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0000368 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0000494 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0000506 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0000508 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0000568 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0001171 ORPHA:2117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0001363 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0001511 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0002084 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0002093 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0005280 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0006501 ORPHA:2117 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0006870 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0007370 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2117 Hartsfield syndrome HP:0100335 ORPHA:2117 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0100515 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002064 ORPHA:447753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002395 ORPHA:447753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0007350 ORPHA:447753 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001761 ORPHA:447753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0003487 ORPHA:447753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0006895 ORPHA:447753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0007256 ORPHA:447753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0010832 ORPHA:447753 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000012 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000020 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000407 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000519 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000666 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000709 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0000726 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001250 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001317 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001324 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001337 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0001653 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002166 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002172 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002280 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002354 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002425 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002464 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002500 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0002527 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0003394 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0003419 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0007371 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0011397 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447753 Autosomal dominant spastic paraplegia type 9A HP:0012514 ORPHA:447753 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001257 ORPHA:447760 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002395 ORPHA:447760 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0003487 ORPHA:447760 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0007350 ORPHA:447760 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001260 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001270 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001324 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001510 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002064 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002174 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002445 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0031064 ORPHA:447760 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0000016 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0000252 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0000750 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001263 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0001999 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002120 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002371 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002476 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002518 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0002751 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0003202 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0003438 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0004322 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0006938 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0007371 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0030051 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0100515 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000400 ORPHA:589905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001249 ORPHA:589905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0012758 ORPHA:589905 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000233 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000316 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000343 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000348 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000455 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000463 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000539 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000540 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000664 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000957 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001182 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001252 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0004209 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0004324 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0007018 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0008872 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0012378 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0100710 ORPHA:589905 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000028 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000286 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000403 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000486 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000508 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000582 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001250 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001288 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0001319 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002019 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002020 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002360 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002378 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002761 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0002788 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0004691 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0007874 ORPHA:589905 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002500 ORPHA:247691 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0008046 ORPHA:247691 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0030880 ORPHA:247691 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000093 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000096 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000112 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000708 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000822 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001895 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001897 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002076 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0003155 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0003259 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0006707 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0008223 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0011954 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0030948 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0100543 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0410263 ORPHA:247691 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000501 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000709 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000716 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000737 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000739 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000741 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001009 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001123 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001269 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0001638 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002077 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002083 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002090 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002197 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002239 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002344 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002354 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002381 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002514 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0011163 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0012377 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0030319 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0030666 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0031606 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0040049 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0040328 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0040331 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0100806 ORPHA:247691 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0000988 ORPHA:247691 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0005743 ORPHA:247691 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0200030 ORPHA:247691 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0012379 ORPHA:103907 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0002024 ORPHA:103907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0002027 ORPHA:103907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0025129 ORPHA:103907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0025130 ORPHA:103907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0410281 ORPHA:103907 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0002013 ORPHA:103907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0002018 ORPHA:103907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0002028 ORPHA:103907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:103907 Chronic diarrhea due to glucoamylase deficiency HP:0003270 ORPHA:103907 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000499 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000501 ORPHA:3437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000505 ORPHA:3437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000518 ORPHA:3437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000534 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000541 ORPHA:3437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0000407 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0001045 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0001053 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0002209 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0002216 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0002290 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0004322 ORPHA:3437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3437 Vogt-Koyanagi-Harada disease HP:0100543 ORPHA:3437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000272 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000293 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000444 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000457 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000506 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000768 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0002002 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0002007 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0002857 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0005692 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome HP:0010804 ORPHA:2104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000164 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000311 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000470 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000496 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000592 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000750 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000958 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0000964 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0001250 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0001252 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0001263 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0001315 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0001338 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0004097 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2101 Grubben-de Cock-Borghgraef syndrome HP:0200055 ORPHA:2101 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000164 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000233 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000239 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000293 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000316 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000322 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000337 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000348 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000365 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000369 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000470 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000486 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000508 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000527 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000664 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000717 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000733 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0000750 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0001250 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0001252 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0001263 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0001274 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0001321 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0001337 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0001510 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0001511 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0001770 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0001773 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0002007 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0002119 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0002230 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0002360 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0002650 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0002714 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0002808 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0002983 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0004279 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0005280 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0010864 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0011344 ORPHA:238750 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0100716 ORPHA:238750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238750 4q21 microdeletion syndrome HP:0200055 ORPHA:238750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000252 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000268 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000272 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000369 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000400 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0002187 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0002362 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0002705 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0002751 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0003199 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0004322 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0005469 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000494 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000518 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0003413 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0005620 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0010055 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0011304 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0012811 ORPHA:3433 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000028 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000157 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000160 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000162 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000164 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000235 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000248 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000252 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000272 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000347 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000430 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000444 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000453 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000486 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000501 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000505 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000506 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000519 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0045075 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000545 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000554 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000568 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000639 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000653 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000695 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000773 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000821 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000896 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000929 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0008070 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0001249 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0001321 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0001596 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0001635 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0001773 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0002007 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0002093 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0002231 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0030680 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0002705 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0002757 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0002779 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0003363 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0003508 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0004209 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0004334 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0004349 ORPHA:2108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0010719 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0011069 ORPHA:2108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2108 Hallermann-Streiff syndrome HP:0200055 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0000028 ORPHA:3434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0000161 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0000202 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0000252 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0000303 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0000505 ORPHA:3434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0000568 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0001199 ORPHA:3434 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0001249 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0001629 ORPHA:3434 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3434 MMEP syndrome HP:0001839 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0001878 ORPHA:71275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0001923 ORPHA:71275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0005502 ORPHA:71275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0020181 ORPHA:71275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0032366 ORPHA:71275 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0002904 ORPHA:71275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0004444 ORPHA:71275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0004446 ORPHA:71275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0025435 ORPHA:71275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0032231 ORPHA:71275 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0000952 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0001433 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0001511 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0001562 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0001649 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0002789 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0005268 ORPHA:71275 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0011273 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0012418 ORPHA:71275 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71275 Rh deficiency syndrome HP:0001972 ORPHA:71275 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000154 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000252 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000286 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000316 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000431 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000448 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000463 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000682 ORPHA:2107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000684 ORPHA:2107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000926 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0000944 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0001156 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0001250 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0001344 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0001387 ORPHA:2107 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0001508 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0002017 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0002208 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0002217 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0002650 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0002714 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0002750 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0004322 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0005930 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0009826 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0010864 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0011344 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0012471 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2107 Hall-Riggs syndrome HP:0100874 ORPHA:2107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71276 Silent sinus syndrome HP:0000478 ORPHA:71276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71276 Silent sinus syndrome HP:0000490 ORPHA:71276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71276 Silent sinus syndrome HP:0000504 ORPHA:71276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0000253 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001250 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001251 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001257 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001263 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001298 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001332 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001877 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002133 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002353 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0011972 ORPHA:71277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0000750 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0000961 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001249 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001254 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001260 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001266 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001269 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001276 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001289 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002072 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002315 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0003470 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0003552 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0007034 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0007308 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0007704 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0100660 ORPHA:71277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0000486 ORPHA:71277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0001336 ORPHA:71277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002186 ORPHA:71277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002360 ORPHA:71277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome HP:0002871 ORPHA:71277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0001945 ORPHA:79139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002353 ORPHA:79139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002383 ORPHA:79139 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0000273 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0000298 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002013 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002039 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002069 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002315 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002396 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002516 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002922 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0003202 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0003326 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0003431 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0003444 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0003470 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0003496 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0004302 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0004372 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0007277 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0009053 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0010549 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0010702 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0011897 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0012229 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0012378 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0012692 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0025143 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0040272 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0200149 ORPHA:79139 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0000639 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0000708 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0001259 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0001266 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0001276 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0001287 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0001332 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0001336 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0001337 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0001762 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002014 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002027 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002060 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002071 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002098 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002133 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002179 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002181 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002203 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002339 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002418 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002463 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002793 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002816 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002902 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0002987 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0003781 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0007361 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0007695 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0007941 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0008959 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0010543 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0010546 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0010547 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0010628 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0010663 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0010851 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0010864 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0011153 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0011182 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0011468 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0012195 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0012502 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0025145 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0025258 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0025387 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0030826 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0031218 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0045007 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0100543 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79139 Japanese encephalitis HP:0100598 ORPHA:79139 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0001335 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0002312 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0002492 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0003388 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0007010 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0100022 ORPHA:238722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0001274 ORPHA:238722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0001328 ORPHA:238722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0003326 ORPHA:238722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0025101 ORPHA:238722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0000044 ORPHA:238722 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0001256 ORPHA:238722 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0002949 ORPHA:238722 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238722 Familial congenital mirror movements HP:0100021 ORPHA:238722 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0002322 ORPHA:363654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0002396 ORPHA:363654 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0001257 ORPHA:363654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0002067 ORPHA:363654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0003487 ORPHA:363654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0006801 ORPHA:363654 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0000298 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0001250 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0002313 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0002506 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0006956 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0007082 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0011448 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363654 X-linked parkinsonism-spasticity syndrome HP:0012407 ORPHA:363654 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000028 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000048 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000212 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000252 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000278 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000280 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000286 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000293 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000368 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000431 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000520 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000750 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0001263 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0001510 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0001773 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0002342 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0003196 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0004279 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0005280 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0005487 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0008551 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0009891 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0010804 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0011003 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0011825 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0012368 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0100539 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0100540 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000023 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000054 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000190 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000243 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000248 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000325 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000341 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000422 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000463 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000494 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000508 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000639 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000736 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000767 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000768 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000960 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0001250 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0001377 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0004209 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0006191 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0008846 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0009894 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0010864 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0031008 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363659 20q11.2 microduplication syndrome HP:0200005 ORPHA:363659 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0001719 ORPHA:3426 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0000961 ORPHA:3426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0000160 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0000175 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0000176 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0000316 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0001256 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0001508 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0001629 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0001642 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0001649 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0002789 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0004322 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0004383 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0005280 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0011968 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0030148 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0045025 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:3000022 ORPHA:3426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0000829 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0001636 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0001660 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0001680 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0002566 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0002901 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0004935 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0010515 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3426 Double outlet right ventricle HP:0030853 ORPHA:3426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000028 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000175 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000347 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000369 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000413 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0000828 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0005916 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0030680 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0002644 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0002823 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0003312 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0006101 ORPHA:3429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0006703 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0008368 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0008551 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0009826 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0100335 ORPHA:3429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3429 Verloove Vanhorick-Brubakk syndrome HP:0100542 ORPHA:3429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0000153 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0000234 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0000263 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0000286 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0000316 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0000457 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0000470 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0000476 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0001156 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0001433 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0001538 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0002816 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0003026 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0003196 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0005257 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0005458 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0008551 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0009826 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221054 Acrocephalopolydactyly HP:0012210 ORPHA:221054 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0030447 ORPHA:79140 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0000992 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0002730 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0005374 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0011356 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0025474 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0025475 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0200036 ORPHA:79140 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0002671 ORPHA:79140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0005526 ORPHA:79140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0006739 ORPHA:79140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0006775 ORPHA:79140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0100570 ORPHA:79140 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0012658 ORPHA:79140 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0030692 ORPHA:79140 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0040095 ORPHA:79140 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79140 Cutaneous neuroendocrine carcinoma HP:0012531 ORPHA:79140 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79141 Hereditary painful callosities HP:0005588 ORPHA:79141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79141 Hereditary painful callosities HP:0012531 ORPHA:79141 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0000256 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0000337 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0000348 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0000431 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0000457 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0000944 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0001156 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0001252 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0001288 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0002652 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0002983 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0002992 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0003272 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0003307 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0004322 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0005930 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0009601 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0009836 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93430 Multiple metaphyseal dysplasia HP:0009882 ORPHA:93430 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0003565 ORPHA:411703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002110 ORPHA:411703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0012735 ORPHA:411703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0025406 ORPHA:411703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0031457 ORPHA:411703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0032016 ORPHA:411703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0001698 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0001824 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0001945 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002014 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002094 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002098 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002105 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002202 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002716 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0006510 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0030830 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0032130 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0032283 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0100749 ORPHA:411703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection HP:0002107 ORPHA:411703 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0001816 ORPHA:79144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0010793 ORPHA:79144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0030805 ORPHA:79144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0100797 ORPHA:79144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0100798 ORPHA:79144 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0001598 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0001792 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0005918 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0008401 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0009951 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0011313 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0030803 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0031282 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0040036 ORPHA:79144 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0001798 ORPHA:79144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0012203 ORPHA:79144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0012710 ORPHA:79144 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0000202 ORPHA:79144 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0001385 ORPHA:79144 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0002650 ORPHA:79144 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0004691 ORPHA:79144 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79144 Isolated congenital onychodysplasia HP:0012296 ORPHA:79144 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0007456 ORPHA:79145 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0000464 ORPHA:79145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0000962 ORPHA:79145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0030052 ORPHA:79145 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0000989 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0001034 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0001155 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0001231 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0002046 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0012855 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0025473 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0030350 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0031293 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0031447 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0040154 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0045059 ORPHA:79145 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0001369 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0009123 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0010610 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0011354 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0020073 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0030442 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0031525 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0200037 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79145 Dowling-Degos disease HP:0200040 ORPHA:79145 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0001231 ORPHA:79147 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0012622 ORPHA:79147 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0030350 ORPHA:79147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0040186 ORPHA:79147 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0005585 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0011123 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0011124 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0025164 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0031512 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0045059 ORPHA:79147 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0000377 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0000606 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0000989 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0001965 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0007473 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0012322 ORPHA:79147 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0011830 ORPHA:79147 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0000164 ORPHA:79147 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0000819 ORPHA:79147 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79147 Familial reactive perforating collagenosis HP:0001005 ORPHA:79147 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0000164 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0000275 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0000276 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0000286 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0000316 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0000324 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0000431 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0000474 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0000506 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0001172 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0001176 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0001212 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0001622 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0002705 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0002750 ORPHA:3424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0004209 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0004279 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3424 Velo-facial-skeletal syndrome HP:0004322 ORPHA:3424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0000104 ORPHA:411709 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0000122 ORPHA:411709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0012300 ORPHA:411709 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0000083 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0000093 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0000822 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0001562 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0001629 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0001762 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0002009 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0002023 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0002089 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0008684 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0010476 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0010958 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:411709 Renal agenesis HP:0012873 ORPHA:411709 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0000464 ORPHA:79148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0045059 ORPHA:79148 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0000271 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0025512 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0025527 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0025528 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0030350 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0200035 ORPHA:79148 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0000973 ORPHA:79148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0007473 ORPHA:79148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79148 Elastosis perforans serpiginosa HP:0025092 ORPHA:79148 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79149 Dermochondrocorneal dystrophy HP:0000924 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79149 Dermochondrocorneal dystrophy HP:0000991 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79149 Dermochondrocorneal dystrophy HP:0001131 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79149 Dermochondrocorneal dystrophy HP:0001155 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79149 Dermochondrocorneal dystrophy HP:0001176 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79149 Dermochondrocorneal dystrophy HP:0001760 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79149 Dermochondrocorneal dystrophy HP:0007663 ORPHA:79149 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0012735 ORPHA:79128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0000964 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0001217 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0001508 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0002091 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0002094 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0002960 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0005948 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0012378 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0012418 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0025179 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0030057 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0030828 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0030830 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0031691 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0032177 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0045051 ORPHA:79128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0000105 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0000988 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0001097 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0001370 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0001824 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0001945 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0002110 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0002240 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0002721 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0003549 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0011947 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0025178 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0025180 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0030880 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0030950 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0100721 ORPHA:79128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79128 Lymphoid interstitial pneumonia HP:0002206 ORPHA:79128 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79129 Trichodysplasia-amelogenesis imperfecta syndrome HP:0000705 ORPHA:79129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79129 Trichodysplasia-amelogenesis imperfecta syndrome HP:0002552 ORPHA:79129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79129 Trichodysplasia-amelogenesis imperfecta syndrome HP:0002293 ORPHA:79129 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0000204 ORPHA:34217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0000956 ORPHA:34217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0000975 ORPHA:34217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0000982 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0001635 ORPHA:34217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0001638 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0001645 ORPHA:34217 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0002209 ORPHA:34217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0002212 ORPHA:34217 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0002224 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0002321 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0004751 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0010719 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:34217 Naxos disease HP:0011675 ORPHA:34217 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0001250 ORPHA:221061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0001342 ORPHA:221061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0002315 ORPHA:221061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0001028 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0002516 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0002650 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0002858 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0012748 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0012749 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0030430 ORPHA:221061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0002572 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0007872 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0011276 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0011513 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0012721 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0100543 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221061 Familial cerebral cavernous malformation HP:0100561 ORPHA:221061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000786 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000823 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000026 ORPHA:52901 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000044 ORPHA:52901 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000134 ORPHA:52901 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0008213 ORPHA:52901 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0002215 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0002225 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0002750 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000044 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0008214 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0040171 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0008734 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0012569 ORPHA:52901 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000027 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000029 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000798 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000876 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0010791 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0012814 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0012864 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0030018 ORPHA:52901 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:52901 Isolated follicle stimulating hormone deficiency HP:0000458 ORPHA:52901 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3416 Hyperostosis corticalis generalisata HP:0000303 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3416 Hyperostosis corticalis generalisata HP:0000407 ORPHA:3416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3416 Hyperostosis corticalis generalisata HP:0000889 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3416 Hyperostosis corticalis generalisata HP:0003103 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3416 Hyperostosis corticalis generalisata HP:0004437 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3416 Hyperostosis corticalis generalisata HP:0005019 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3416 Hyperostosis corticalis generalisata HP:0005789 ORPHA:3416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3416 Hyperostosis corticalis generalisata HP:0010628 ORPHA:3416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0000512 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0000666 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0001139 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0001249 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0001581 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0002046 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0002205 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0003691 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0007476 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0011003 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0030203 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3417 Van den Bosch syndrome HP:0200016 ORPHA:3417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0000215 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0000294 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0000307 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0000414 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0000437 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0000561 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0001057 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0001075 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0001999 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0002714 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0005338 ORPHA:79133 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0005585 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0005590 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0008070 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0009743 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0010781 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79133 Focal facial dermal dysplasia type I HP:0011221 ORPHA:79133 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0003074 ORPHA:79134 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0040217 ORPHA:79134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0001250 ORPHA:79134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0001324 ORPHA:79134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0008936 ORPHA:79134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0011342 ORPHA:79134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0000343 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0000463 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0001488 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0001944 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0002013 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0002521 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0002714 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0003196 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0005487 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0009830 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0009894 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0040025 ORPHA:79134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79134 DEND syndrome HP:0030057 ORPHA:79134 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0000104 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0001622 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0001623 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0001945 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0003762 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0008670 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0012532 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0012888 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0030016 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0030711 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0100607 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome HP:0100608 ORPHA:3411 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79135 Episodic ataxia type 3 HP:0002131 ORPHA:79135 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79135 Episodic ataxia type 3 HP:0002321 ORPHA:79135 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79135 Episodic ataxia type 3 HP:0002076 ORPHA:79135 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79135 Episodic ataxia type 3 HP:0000360 ORPHA:79135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79135 Episodic ataxia type 3 HP:0002411 ORPHA:79135 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79135 Episodic ataxia type 3 HP:0000639 ORPHA:79135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79135 Episodic ataxia type 3 HP:0001250 ORPHA:79135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79135 Episodic ataxia type 3 HP:0002301 ORPHA:79135 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79135 Episodic ataxia type 3 HP:0002315 ORPHA:79135 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000104 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000238 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000482 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000587 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0001249 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0001511 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0001561 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0002023 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0002032 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0002410 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0002575 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0008678 ORPHA:3412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0002937 ORPHA:3412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0002984 ORPHA:3412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0003312 ORPHA:3412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0030680 ORPHA:3412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000023 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000028 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000278 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000347 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000356 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000528 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0000568 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0001195 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0002089 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0002139 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0002414 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0002827 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0009892 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0010305 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0011027 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0011267 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3412 VACTERL with hydrocephalus HP:0100541 ORPHA:3412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79136 Episodic ataxia type 4 HP:0001251 ORPHA:79136 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79136 Episodic ataxia type 4 HP:0000617 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79136 Episodic ataxia type 4 HP:0000640 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79136 Episodic ataxia type 4 HP:0000651 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79136 Episodic ataxia type 4 HP:0002172 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79136 Episodic ataxia type 4 HP:0002311 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79136 Episodic ataxia type 4 HP:0002321 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79136 Episodic ataxia type 4 HP:0002359 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79136 Episodic ataxia type 4 HP:0002457 ORPHA:79136 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79136 Episodic ataxia type 4 HP:0002018 ORPHA:79136 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0002197 ORPHA:79137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0007166 ORPHA:79137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0010849 ORPHA:79137 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0000565 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0000639 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0001263 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0001290 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0002069 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0002072 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0002121 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0006889 ORPHA:79137 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0000602 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001251 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001289 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002329 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0003403 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0003431 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0007305 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0032169 ORPHA:79138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0000651 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001284 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002090 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002094 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002270 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002353 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002922 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0003690 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0007131 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0007209 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0007256 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0011947 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0012534 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0012696 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0030057 ORPHA:79138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0000496 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0000508 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0000639 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001259 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001283 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001291 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001315 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0001348 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002273 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002445 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0002878 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0003487 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0004887 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0009916 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0010628 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0010831 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0010871 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0011499 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0012229 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0012416 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0012531 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0030319 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0031123 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79138 Bickerstaff brainstem encephalitis HP:0100786 ORPHA:79138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0003134 ORPHA:431329 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0003551 ORPHA:431329 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0003698 ORPHA:431329 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0000648 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0001257 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0001258 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0002540 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0003487 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0005109 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0007141 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0007178 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0008944 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0009830 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:431329 Autosomal recessive spastic paraplegia type 57 HP:0012447 ORPHA:431329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0007158 ORPHA:454887 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0002067 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0001337 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0000743 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0003474 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0004305 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0001336 ORPHA:454887 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0030217 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0001288 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0002172 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0001332 ORPHA:454887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0002381 ORPHA:454887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0011098 ORPHA:454887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0002381 ORPHA:454887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0002354 ORPHA:454887 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0100022 ORPHA:454887 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0000708 ORPHA:454887 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0000726 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0002304 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0002451 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0045084 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0007301 ORPHA:454887 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454887 Corticobasal syndrome HP:0001300 ORPHA:454887 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000028 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000036 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000089 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000113 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000160 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000218 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000233 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000269 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000347 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000369 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000470 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000772 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000773 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000811 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000879 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000883 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0001195 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0001562 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0001762 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0002009 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0002089 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0002098 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0002107 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0002878 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0002984 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0002990 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0003027 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0003041 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0003309 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0003561 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000444 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0005280 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0005792 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0006495 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0008665 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0008683 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0008846 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0008897 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0009800 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0009829 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0010049 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0011341 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0040072 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3404 Ulbright-Hodes syndrome HP:0000377 ORPHA:3404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001561 ORPHA:3405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001903 ORPHA:3405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0002247 ORPHA:3405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001195 ORPHA:3405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001629 ORPHA:3405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001679 ORPHA:3405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001702 ORPHA:3405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0011100 ORPHA:3405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome HP:0001789 ORPHA:3405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0001041 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0005338 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0007502 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0030350 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0032152 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0045059 ORPHA:3406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0000290 ORPHA:3406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0000306 ORPHA:3406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0000958 ORPHA:3406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0004334 ORPHA:3406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0004426 ORPHA:3406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0001061 ORPHA:3406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0005268 ORPHA:3406 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:3406 Ulerythema ophryogenesis HP:0032282 ORPHA:3406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570422 Galactose mutarotase deficiency HP:0004915 ORPHA:570422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570422 Galactose mutarotase deficiency HP:0012024 ORPHA:570422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570422 Galactose mutarotase deficiency HP:0012379 ORPHA:570422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:570422 Galactose mutarotase deficiency HP:0000518 ORPHA:570422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:570422 Galactose mutarotase deficiency HP:0001396 ORPHA:570422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570422 Galactose mutarotase deficiency HP:0001410 ORPHA:570422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:570422 Galactose mutarotase deficiency HP:0000707 ORPHA:570422 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:570422 Galactose mutarotase deficiency HP:0001508 ORPHA:570422 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:570422 Galactose mutarotase deficiency HP:0002240 ORPHA:570422 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:570422 Galactose mutarotase deficiency HP:0100806 ORPHA:570422 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3408 Upington disease HP:0002829 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3408 Upington disease HP:0003365 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3408 Upington disease HP:0003370 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3408 Upington disease HP:0006429 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3408 Upington disease HP:0010588 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3408 Upington disease HP:0030038 ORPHA:3408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000028 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000135 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000286 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000288 ORPHA:3409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000347 ORPHA:3409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000426 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000470 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000486 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000939 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000940 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0001156 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0001249 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0001773 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0002757 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0003212 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0004209 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0004322 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0005830 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000069 ORPHA:3409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000396 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0000582 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0001513 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0001770 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0002808 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0005930 ORPHA:3409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0008736 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0009906 ORPHA:3409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:3409 Urban-Rogers-Meyer syndrome HP:0100490 ORPHA:3409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0002315 ORPHA:40923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0007902 ORPHA:40923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0025188 ORPHA:40923 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0000421 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0000501 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0000543 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0000618 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0000707 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0002019 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0002313 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0007052 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0007663 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0007917 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0011497 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0011505 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0011531 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0012122 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0012230 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0030329 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0030652 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0030667 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0030773 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0030786 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0040049 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0100832 ORPHA:40923 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0002140 ORPHA:40923 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0002196 ORPHA:40923 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0002326 ORPHA:40923 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0025239 ORPHA:40923 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:40923 Eales disease HP:0100014 ORPHA:40923 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:3400 Aorto-ventricular tunnel HP:0011627 ORPHA:3400 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:3400 Aorto-ventricular tunnel HP:0001714 ORPHA:3400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:3400 Aorto-ventricular tunnel HP:0001635 ORPHA:3400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3400 Aorto-ventricular tunnel HP:0001654 ORPHA:3400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3400 Aorto-ventricular tunnel HP:0001679 ORPHA:3400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3400 Aorto-ventricular tunnel HP:0002616 ORPHA:3400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3400 Aorto-ventricular tunnel HP:0006704 ORPHA:3400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:3400 Aorto-ventricular tunnel HP:0030148 ORPHA:3400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0003139 ORPHA:79124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0030355 ORPHA:79124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0030782 ORPHA:79124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0040088 ORPHA:79124 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001433 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001531 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002205 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002240 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002743 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002849 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0004429 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0005403 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0012735 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0030374 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0031123 ORPHA:79124 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0000016 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0000952 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001269 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001409 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001541 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001873 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001876 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0001903 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002014 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002069 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002100 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002206 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002385 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002415 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002722 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002728 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0002910 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0010550 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0031218 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0040223 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0100626 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0410018 ORPHA:79124 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0000252 ORPHA:79124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0040089 ORPHA:79124 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0002094 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0002110 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0002113 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0002878 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0012418 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0025177 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0025179 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0025392 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0025393 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0030879 ORPHA:79126 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0000822 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0000961 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0001945 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0002202 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0002789 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0012378 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0030830 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0031246 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0045051 ORPHA:79126 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0001698 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0002206 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0002716 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0002829 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0003259 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0003326 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0003565 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0011227 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0012398 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0031631 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0031851 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0100749 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79126 Acute interstitial pneumonia HP:0100750 ORPHA:79126 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002091 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002094 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002097 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002207 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0006510 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0025179 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0030828 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0030877 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0031996 ORPHA:79127 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0004469 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0006516 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0011947 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0012418 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0031246 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0045051 ORPHA:79127 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0001217 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0001824 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0001945 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002105 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002110 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0025175 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome HP:0100749 ORPHA:79127 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0002656 ORPHA:79106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0002829 ORPHA:79106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0006376 ORPHA:79106 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0001169 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0001211 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0001769 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0001773 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0001831 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0002663 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0002753 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0002967 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0003025 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0003038 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0003170 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0003275 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0004279 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0004322 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0008800 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0008808 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0009803 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0010305 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0011849 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79106 Eiken syndrome HP:0100671 ORPHA:79106 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000158 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000202 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000316 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000348 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000407 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000518 ORPHA:79107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000618 ORPHA:79107 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0000882 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0001249 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0001263 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0001268 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002015 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002571 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002650 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002721 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002808 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0002983 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0004322 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0007325 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0008796 ORPHA:79107 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0100613 ORPHA:79107 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0001332 ORPHA:36899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0001336 ORPHA:36899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0010531 ORPHA:36899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0045084 ORPHA:36899 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0000473 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0000716 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0000722 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0000739 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0002356 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0012075 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:36899 Myoclonus-dystonia syndrome HP:0025269 ORPHA:36899 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000023 ORPHA:325345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000039 ORPHA:325345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000041 ORPHA:325345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000048 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000051 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000054 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000056 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000058 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000062 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000063 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0000150 ORPHA:325345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0001197 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0010459 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0010460 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0010461 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0012244 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0030258 ORPHA:325345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0012861 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:325345 46,XY ovotesticular disorder of sex development HP:0100779 ORPHA:325345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93405 Syndactyly type 4 HP:0001161 ORPHA:93405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93405 Syndactyly type 4 HP:0001199 ORPHA:93405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93405 Syndactyly type 4 HP:0001376 ORPHA:93405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93405 Syndactyly type 4 HP:0001501 ORPHA:93405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93405 Syndactyly type 4 HP:0001770 ORPHA:93405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93405 Syndactyly type 4 HP:0001829 ORPHA:93405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93405 Syndactyly type 4 HP:0005736 ORPHA:93405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93405 Syndactyly type 4 HP:0010708 ORPHA:93405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93405 Syndactyly type 4 HP:0100490 ORPHA:93405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93406 Syndactyly type 5 HP:0001440 ORPHA:93406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93406 Syndactyly type 5 HP:0004209 ORPHA:93406 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93406 Syndactyly type 5 HP:0004691 ORPHA:93406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93406 Syndactyly type 5 HP:0006097 ORPHA:93406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93406 Syndactyly type 5 HP:0009465 ORPHA:93406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93406 Syndactyly type 5 HP:0009701 ORPHA:93406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93406 Syndactyly type 5 HP:0009882 ORPHA:93406 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93406 Syndactyly type 5 HP:0100490 ORPHA:93406 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0005916 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0001773 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0001830 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0001841 ORPHA:93403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0001852 ORPHA:93403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0004209 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0004279 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0004691 ORPHA:93403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0006097 ORPHA:93403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0009773 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0100260 ORPHA:93403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93403 Syndactyly type 2 HP:0100490 ORPHA:93403 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000028 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000079 ORPHA:1695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000218 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000232 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000248 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000252 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000316 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000347 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000348 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000368 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000444 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000494 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000581 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0000767 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0002007 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0030680 ORPHA:1695 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0002650 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0002916 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0003196 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0004322 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0005280 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0005692 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0008056 ORPHA:1695 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1695 Non-distal trisomy 10q HP:0100543 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93404 Syndactyly type 3 HP:0001831 ORPHA:93404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93404 Syndactyly type 3 HP:0006101 ORPHA:93404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93404 Syndactyly type 3 HP:0100490 ORPHA:93404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0001770 ORPHA:93409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0001822 ORPHA:93409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0004220 ORPHA:93409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0004704 ORPHA:93409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0009577 ORPHA:93409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0009773 ORPHA:93409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93409 Brachydactyly-syndactyly, Zhao type HP:0010047 ORPHA:93409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0010880 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000776 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001539 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000107 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000568 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0006956 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001274 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001320 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0100490 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001233 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0012553 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0002089 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000280 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0005280 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000431 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000369 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000154 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000308 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001561 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0007759 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000202 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000803 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0007291 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0002280 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000175 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001188 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001838 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000377 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000256 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0002007 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000054 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001166 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001792 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0009943 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001770 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0100040 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0010344 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001837 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0002126 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001321 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0002987 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0003244 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000954 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0010511 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000324 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0007911 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000179 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000188 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001032 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0002943 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0045086 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0004935 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001629 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0002342 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001195 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000237 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0000494 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0001680 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0040019 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1692 Mosaic trisomy 1 HP:0100839 ORPHA:1692 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0012735 ORPHA:140896 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0001945 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0002094 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0002098 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0002315 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0002721 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0003326 ORPHA:140896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0000819 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0001626 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0002664 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0004887 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0006528 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0011949 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0012418 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0025439 ORPHA:140896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:140896 Severe acute respiratory syndrome HP:0001919 ORPHA:140896 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0100483 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0001839 ORPHA:488232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0008619 ORPHA:488232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0001597 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0004692 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0005767 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010076 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010112 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010359 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010371 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010383 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010413 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome HP:0010711 ORPHA:488232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000175 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000191 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000243 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000272 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000286 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000327 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000347 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000356 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000369 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000384 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000396 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000405 ORPHA:79113 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000413 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000506 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000582 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0000750 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0001177 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0001249 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0001250 ORPHA:79113 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0001631 ORPHA:79113 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0003196 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0004322 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0005484 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0008551 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0008609 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0009738 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0009748 ORPHA:79113 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0011268 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0011272 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome HP:0011968 ORPHA:79113 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93402 Syndactyly type 1 HP:0001770 ORPHA:93402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93402 Syndactyly type 1 HP:0006101 ORPHA:93402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93402 Syndactyly type 1 HP:0009773 ORPHA:93402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000079 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000175 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000232 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000262 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000272 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000286 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000293 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000316 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000347 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000369 ORPHA:1699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000431 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000470 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000474 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000520 ORPHA:1699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0000574 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0001176 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0001249 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0001263 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0002023 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0002558 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0030680 ORPHA:1699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0002714 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0002750 ORPHA:1699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0002916 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0003196 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0004209 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0004322 ORPHA:1699 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0008053 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0008056 ORPHA:1699 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0009738 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1699 Trisomy 12p HP:0012368 ORPHA:1699 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000280 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000365 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000369 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000518 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000943 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000969 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001252 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001433 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001541 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0010729 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001263 ORPHA:93400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000023 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000077 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000238 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000486 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000519 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000572 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000639 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000648 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000967 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001009 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001250 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001251 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001257 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001310 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001336 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001537 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0001627 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0002376 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0007750 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0007957 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0009891 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0011947 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0030506 ORPHA:93400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000212 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000256 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0000348 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0002240 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0003115 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0004554 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0010442 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93400 Congenital sialidosis type 2 HP:0010808 ORPHA:93400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000028 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000164 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000219 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000233 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000252 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000486 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000527 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000540 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000574 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000675 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000708 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000729 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000750 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000954 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001249 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001252 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001508 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001518 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001631 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001643 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001852 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001999 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002119 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002719 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0004209 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0010059 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0011968 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0012758 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000023 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000059 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000160 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000175 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000286 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000316 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000322 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000341 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000343 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000348 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000368 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000378 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000455 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000463 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000482 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000490 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000664 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000691 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000938 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000960 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000998 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001212 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001363 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001653 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001680 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0001741 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002000 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002020 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002092 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002360 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002553 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0002783 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0003196 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0004691 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0006528 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0006579 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0009183 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0011470 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0011800 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0025116 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0025160 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0040223 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0100806 ORPHA:363611 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0003207 ORPHA:51608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0004963 ORPHA:51608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0006559 ORPHA:51608 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000121 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000365 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000822 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000961 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001561 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001717 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0002098 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0002749 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0004912 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0004966 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0010512 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0010766 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0011968 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0012408 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0012457 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0025116 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0025169 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0025477 ORPHA:51608 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000381 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000405 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000407 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000410 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000630 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000737 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000951 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000969 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001384 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001531 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001541 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001640 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001698 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001714 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001789 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001945 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0002013 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0002815 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0002829 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0002949 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0003836 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0003941 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0005213 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0009164 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0010639 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0012409 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0032553 ORPHA:51608 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0000573 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001102 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001250 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0001297 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0002092 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0002326 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0002514 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0002647 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0003109 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0005103 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0006690 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0011344 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0011506 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0040197 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:51608 Generalized arterial calcification of infancy HP:0100758 ORPHA:51608 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001647 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001650 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001655 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001663 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001718 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001907 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0004756 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0005182 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0010446 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0011636 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0011662 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0100584 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0003115 ORPHA:1686 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0000775 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001279 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001537 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001539 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001540 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001627 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001629 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001631 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001635 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001651 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001669 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001679 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001680 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001681 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001712 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001962 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0004415 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0004971 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0005301 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0006682 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0006714 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0010773 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0010866 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0011628 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0011675 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0100749 ORPHA:1686 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001634 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001636 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1686 Cardiac diverticulum HP:0001643 ORPHA:1686 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001999 ORPHA:487796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0410263 ORPHA:487796 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000119 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000766 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000818 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001249 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001627 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001873 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002079 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002119 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002518 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002650 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002719 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0008897 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0011877 ORPHA:487796 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000023 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000047 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000122 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000126 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000154 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000219 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000252 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000316 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000319 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000322 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000341 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000343 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000365 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000368 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000414 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000431 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000454 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000465 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000486 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000494 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000508 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000577 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000582 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000648 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000664 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000687 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000689 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000924 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001004 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001182 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001250 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001263 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001272 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001305 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001344 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001371 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001643 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001845 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002465 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002553 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002714 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0002721 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0003764 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0005160 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0007033 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0007655 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0007663 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0008947 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0009623 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0010804 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0011220 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0011800 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0012385 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0030084 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0045075 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0100763 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000953 ORPHA:221016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001010 ORPHA:221016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001029 ORPHA:221016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0010783 ORPHA:221016 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000164 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001041 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001510 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001518 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002164 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0004322 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0004334 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0005775 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0008070 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0100840 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0200102 ORPHA:221016 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000028 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000175 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000218 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000282 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000417 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000519 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000670 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000682 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000684 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000691 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0000938 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001373 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001875 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001903 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002013 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002014 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002665 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002669 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002671 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002750 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002756 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002860 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002863 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002970 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0003065 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0003189 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0003995 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0004039 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0004979 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0006443 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0006496 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0007418 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0007556 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0008066 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0008069 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0009803 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0009804 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0010049 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0010978 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0012719 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0031367 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0040288 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0100238 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0100671 ORPHA:221016 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001118 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001909 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001915 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0002861 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0003761 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0009700 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0200044 ORPHA:221016 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221016 Rothmund-Thomson syndrome type 2 HP:0001249 ORPHA:221016 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1682 Arterial dissection-lentiginosis syndrome HP:0000995 ORPHA:1682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1682 Arterial dissection-lentiginosis syndrome HP:0001269 ORPHA:1682 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1682 Arterial dissection-lentiginosis syndrome HP:0005294 ORPHA:1682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1682 Arterial dissection-lentiginosis syndrome HP:0100026 ORPHA:1682 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1681 Diprosopus HP:0000175 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1681 Diprosopus HP:0000271 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1681 Diprosopus HP:0000366 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1681 Diprosopus HP:0000478 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1681 Diprosopus HP:0000504 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1681 Diprosopus HP:0001671 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1681 Diprosopus HP:0002323 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1681 Diprosopus HP:0007703 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1681 Diprosopus HP:0008572 ORPHA:1681 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1681 Diprosopus HP:0100335 ORPHA:1681 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0000154 ORPHA:93474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0000232 ORPHA:93474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0000280 ORPHA:93474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0000407 ORPHA:93474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0000501 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0000924 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0001376 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0001387 ORPHA:93474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0001659 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0001744 ORPHA:93474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0002240 ORPHA:93474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0002313 ORPHA:93474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0007957 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0008155 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0012384 ORPHA:93474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0012471 ORPHA:93474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0040129 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93474 Scheie syndrome HP:0100021 ORPHA:93474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000158 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000232 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000238 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000268 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000280 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000293 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000365 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000431 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000463 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000470 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000488 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000501 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000574 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000716 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000772 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000822 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000889 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000924 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0000940 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] 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HP:0001706 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0001744 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0002007 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0002028 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0002205 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0002230 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0002240 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0002313 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0002360 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0002650 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0002652 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0003275 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0003416 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0003468 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0004322 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0005280 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0005930 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0007256 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0007957 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0008155 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0009811 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0011968 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0012384 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0012471 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0040129 ORPHA:93473 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0100021 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0100490 ORPHA:93473 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0100729 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0100765 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93473 Hurler syndrome HP:0100790 ORPHA:93473 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000252 ORPHA:468631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001999 ORPHA:468631 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000340 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001511 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001525 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002119 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002126 ORPHA:468631 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] 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stature due to RTTN deficiency HP:0000047 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000122 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000125 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000160 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000278 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000308 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000315 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000319 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000368 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000426 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000431 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000520 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000543 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000582 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000601 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000609 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000733 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000964 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001250 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001257 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001260 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001272 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001274 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001276 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001302 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001321 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001339 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0001363 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002059 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002079 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002247 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002360 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002487 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002518 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0002539 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0004742 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0005487 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0006380 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0006466 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0006870 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0006872 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0006955 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0007165 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0007256 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0007333 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0007633 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0007843 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0008619 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0009062 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0009879 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0009905 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0010692 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0010705 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0010767 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0012110 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0012294 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0030260 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0100490 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0100702 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0100716 ORPHA:468631 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0000280 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0000407 ORPHA:93476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0001376 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0001638 ORPHA:93476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0001654 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0001744 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0002230 ORPHA:93476 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0002240 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0002652 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0003416 ORPHA:93476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0003468 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0004322 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0007256 ORPHA:93476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0007957 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0012384 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0040129 ORPHA:93476 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0100765 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93476 Hurler-Scheie syndrome HP:0100790 ORPHA:93476 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0003654 ORPHA:1675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0012127 ORPHA:1675 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001250 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001263 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001328 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002353 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0008947 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0010841 ORPHA:1675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000194 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000218 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000252 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000256 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000278 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000316 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000463 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000470 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000478 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000482 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000483 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000486 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000494 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000527 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000545 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000639 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000684 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000729 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000737 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001104 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001276 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001284 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001344 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001347 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0001799 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002002 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002033 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002059 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002187 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002373 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002540 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002656 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0002983 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0004887 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0005274 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0005280 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0006191 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0006863 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0006919 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0008872 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0009748 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0011153 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0011220 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0011344 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0012433 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0030890 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0030939 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0000040 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0000232 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0000238 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0000400 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0000639 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0000648 ORPHA:1672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0000708 ORPHA:1672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0000864 ORPHA:1672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0000975 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0001176 ORPHA:1672 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0004325 ORPHA:1672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0004326 ORPHA:1672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0004375 ORPHA:1672 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1672 Diencephalic syndrome HP:0100022 ORPHA:1672 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1671 Split cord malformation type I HP:0002230 ORPHA:1671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1671 Split cord malformation type I HP:0002650 ORPHA:1671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1671 Split cord malformation type I HP:0100563 ORPHA:1671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0100950 ORPHA:71212 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0000825 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001254 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001289 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001319 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001397 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001511 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001985 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001998 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002013 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002014 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002173 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002910 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0003215 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0003508 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0006929 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0008283 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0012071 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0030781 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0030796 ORPHA:71212 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0000580 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001270 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001508 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001987 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0003128 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0003234 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0008151 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0008180 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0008872 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0009830 ORPHA:71212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001639 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001644 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0001657 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002605 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0002913 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0006554 ORPHA:71212 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0007663 ORPHA:71213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0009711 ORPHA:71213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0000501 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0000529 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0000545 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0000618 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0000622 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0000646 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0001147 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0007902 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0008014 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0011532 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0011886 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0012531 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0012803 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0030528 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0030786 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0100014 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71213 Retinal capillary malformation HP:0100832 ORPHA:71213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000817 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0001249 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002019 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002360 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0011344 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0410263 ORPHA:468620 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000252 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000717 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000718 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000712 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002066 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002136 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002376 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002719 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0008947 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0010832 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0011968 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0030051 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000256 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000713 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000729 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0001250 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0001344 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002133 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002141 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002307 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002312 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002317 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0002515 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0004305 ORPHA:468620 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279882 Spasmus nutans HP:0000473 ORPHA:279882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:279882 Spasmus nutans HP:0000639 ORPHA:279882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:279882 Spasmus nutans HP:0100022 ORPHA:279882 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0000009 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0000572 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0002529 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0003474 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0010550 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0011096 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0012486 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0030057 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0100653 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0200026 ORPHA:71211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0012443 ORPHA:71211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0002018 ORPHA:71211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0002878 ORPHA:71211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0012229 ORPHA:71211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:71211 Neuromyelitis optica spectrum disorder HP:0100247 ORPHA:71211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0011995 ORPHA:1677 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0030718 ORPHA:1677 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001279 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001640 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001667 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001678 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001962 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0002094 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0005110 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0005178 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0005180 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0005345 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0006707 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0011675 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0012664 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0030872 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0031665 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0031667 ORPHA:1677 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0001250 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0002202 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0002240 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0004757 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:0012398 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1677 Familial idiopathic dilatation of the right atrium HP:3000042 ORPHA:1677 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0007183 ORPHA:255241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000486 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000508 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000580 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000602 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000639 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000648 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000712 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000998 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001250 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001252 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001257 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001260 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001263 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001332 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001347 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001508 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001629 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001639 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002073 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002104 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002151 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002415 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002490 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0002928 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0007020 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0008972 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0009830 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0010864 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0100022 ORPHA:255241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0000365 ORPHA:255241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001903 ORPHA:255241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255241 Leigh syndrome with leukodystrophy HP:0001941 ORPHA:255241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0000100 ORPHA:255249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0003073 ORPHA:255249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0012597 ORPHA:255249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0001511 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0002151 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0002376 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0002572 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0004900 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0007183 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0007334 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0007430 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0008947 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0011193 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0011968 ORPHA:255249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0000107 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0001562 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0001640 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0001947 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0001970 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0007965 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0011471 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255249 Leigh syndrome with nephrotic syndrome HP:0100704 ORPHA:255249 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0000252 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0000269 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0000834 ORPHA:1665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0001257 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0001357 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0002120 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0006887 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0010515 ORPHA:1665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0010864 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0011344 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0000508 ORPHA:2997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0001601 ORPHA:2997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0001611 ORPHA:2997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0002301 ORPHA:2997 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0001622 ORPHA:2997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2997 Ptosis-vocal cord paralysis syndrome HP:0003510 ORPHA:2997 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0000252 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0000639 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001250 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001263 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001266 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001272 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001319 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001332 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001508 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001733 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001947 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0001992 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002079 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002119 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002161 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002415 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002448 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002470 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0002478 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0003206 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0003234 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0004897 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0010536 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0010967 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0011951 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0012547 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0012751 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0100704 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0030053 ORPHA:1662 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000160 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000176 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000316 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000347 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000369 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000494 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000506 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000621 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000883 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000938 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0001196 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0001511 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0001558 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0001622 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0001643 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0002089 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0002597 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0002804 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0002828 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0004331 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0004334 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0004492 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0005253 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0005267 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0005595 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0006266 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0006645 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0006710 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0007543 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0007592 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0008070 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0009924 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0010219 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0010648 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0012478 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0012745 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0025354 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0040189 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0045075 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0200041 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0200102 ORPHA:1662 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000047 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000073 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000453 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000465 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0000695 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0001561 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0001631 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0001651 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0001669 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0001799 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0004388 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0004970 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0005659 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0006267 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0008244 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1662 Restrictive dermopathy HP:0100490 ORPHA:1662 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1661 X-linked corneal dermoid HP:0000505 ORPHA:1661 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1661 X-linked corneal dermoid HP:0000572 ORPHA:1661 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1661 X-linked corneal dermoid HP:0000615 ORPHA:1661 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1661 X-linked corneal dermoid HP:0007957 ORPHA:1661 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0000303 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0000492 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0000508 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0000691 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0000958 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0000963 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0000966 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0000968 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0000995 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0002209 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0002231 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0002552 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0007477 ORPHA:1660 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0009804 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0100797 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1660 Dermoodontodysplasia HP:0100798 ORPHA:1660 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000023 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000028 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000046 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000135 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000157 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000175 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000202 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000218 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000252 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000268 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000276 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000286 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000307 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000316 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000324 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000343 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000347 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000364 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000365 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000369 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000405 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000465 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000486 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000492 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000494 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000506 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000508 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000766 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000767 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000902 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001040 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001059 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001060 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001288 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001376 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001508 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001511 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001537 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001646 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0004942 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0001760 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0002089 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0002162 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0030680 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0002643 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0002650 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0002804 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0003202 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0003298 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0003422 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0003764 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0004322 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0006101 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0008065 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0008729 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0008736 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0009756 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0009760 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0009773 ORPHA:2990 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0010318 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0011842 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0012718 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0100022 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0100490 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0100543 ORPHA:2990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79168 Disorder of bile acid synthesis HP:0000662 ORPHA:79168 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79168 Disorder of bile acid synthesis HP:0000707 ORPHA:79168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79168 Disorder of bile acid synthesis HP:0001080 ORPHA:79168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79168 Disorder of bile acid synthesis HP:0001392 ORPHA:79168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79168 Disorder of bile acid synthesis HP:0001396 ORPHA:79168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79168 Disorder of bile acid synthesis HP:0001892 ORPHA:79168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79168 Disorder of bile acid synthesis HP:0002630 ORPHA:79168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79168 Disorder of bile acid synthesis HP:0002748 ORPHA:79168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79168 Disorder of bile acid synthesis HP:0002910 ORPHA:79168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79168 Disorder of bile acid synthesis HP:0009830 ORPHA:79168 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000164 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000175 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000243 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000252 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000286 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000308 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000316 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000368 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000470 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000494 ORPHA:2994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000821 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000823 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0001166 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0001199 ORPHA:2994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0001249 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0001376 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0002007 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0030680 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0004322 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0004397 ORPHA:2994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0006101 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0008046 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0008499 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0008551 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0009775 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0009882 ORPHA:2994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0012368 ORPHA:2994 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0100490 ORPHA:2994 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0000857 ORPHA:1667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001392 ORPHA:1667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001510 ORPHA:1667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0002652 ORPHA:1667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0004322 ORPHA:1667 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001875 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0002654 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0002910 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0003073 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0004325 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0006554 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0100255 ORPHA:1667 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0000083 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0000252 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0000486 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0000821 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0000952 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001249 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001250 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001263 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001324 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001738 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001891 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001944 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001945 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001987 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001993 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0002240 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0002355 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0002719 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0002904 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0011787 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0012622 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0100827 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0410263 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001541 ORPHA:1667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001631 ORPHA:1667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0001719 ORPHA:1667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0002480 ORPHA:1667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1667 Wolcott-Rallison syndrome HP:0002902 ORPHA:1667 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000154 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000233 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000278 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000280 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000286 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000293 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000307 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000316 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000343 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000347 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000431 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000437 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000445 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000494 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000506 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000508 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000612 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000637 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001249 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001250 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001263 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001302 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001328 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001339 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001508 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001510 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002000 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002126 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002300 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002381 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002381 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002553 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002652 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0005487 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0007227 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0010529 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0011968 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0012905 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0040188 ORPHA:2995 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000072 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000126 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000239 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000243 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000252 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000270 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000448 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000470 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001100 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0001387 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002120 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002162 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0003189 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0010935 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0012157 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0030502 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0100308 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000465 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000482 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000588 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002326 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0002650 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0009942 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0100540 ORPHA:2995 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0001651 ORPHA:1666 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0001627 ORPHA:1666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0003115 ORPHA:1666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0010872 ORPHA:1666 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0001696 ORPHA:1666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0011603 ORPHA:1666 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0000069 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0001743 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0002101 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0002566 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0004414 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0011615 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0011620 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0012210 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0012243 ORPHA:1666 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0000238 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0000384 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0000465 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0000772 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0001263 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0001374 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0001760 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0002245 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0002594 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0003006 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1666 Dextrocardia HP:0008771 ORPHA:1666 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000047 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000175 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000278 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000368 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000582 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001249 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001837 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001999 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0002007 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0002474 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0003502 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0003799 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0004209 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0004220 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0005280 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0005793 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0008689 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0008872 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0009101 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0009246 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0011342 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0030031 ORPHA:261911 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000325 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000350 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000402 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000463 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000475 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000494 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000574 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000599 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0000664 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001290 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001513 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001763 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0001773 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0002015 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0002332 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0004482 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0007477 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0008394 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0009600 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0010773 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0011648 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0012471 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0100034 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:261911 Partial deletion of the short arm of chromosome 7 HP:0200055 ORPHA:261911 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001252 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001263 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003236 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003551 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0000252 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0000467 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0000518 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0000639 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001324 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001638 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0002093 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003327 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003388 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003394 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003403 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0003546 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0006698 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0007340 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0008959 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0008997 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0009053 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0030192 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0100543 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001249 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0001250 ORPHA:363623 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1653 Dentin dysplasia HP:0000682 ORPHA:1653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1653 Dentin dysplasia HP:0006482 ORPHA:1653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1653 Dentin dysplasia HP:0011001 ORPHA:1653 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1653 Dentin dysplasia HP:0100777 ORPHA:1653 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0000083 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0000092 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0000093 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0000097 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0000114 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0000117 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0000121 ORPHA:1652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0000518 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0000787 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0000790 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0001252 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0001256 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002027 ORPHA:1652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002150 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002653 ORPHA:1652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002663 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002748 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002757 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002814 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002749 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002752 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002753 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0003355 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0003236 ORPHA:1652 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0002979 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0003013 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0010580 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0003020 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0003025 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0003029 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0003076 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0003109 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0003126 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0003149 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0031415 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0005576 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0005574 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0012622 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0008732 ORPHA:1652 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1652 Dent disease HP:0011342 ORPHA:1652 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000465 ORPHA:2988 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000248 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000316 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000368 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000508 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000537 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000582 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0001249 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0001290 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0002553 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0006247 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0009623 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0009662 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0009836 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0025537 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome HP:0025538 ORPHA:2988 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2989 Familial pterygium of the conjunctiva HP:0000478 ORPHA:2989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2989 Familial pterygium of the conjunctiva HP:0000504 ORPHA:2989 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2989 Familial pterygium of the conjunctiva HP:0007759 ORPHA:2989 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0000561 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0000822 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0001635 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0001650 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0001653 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0001714 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002097 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002155 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002170 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002216 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002223 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002289 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002671 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0003124 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0004382 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0004414 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0008070 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0002616 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0001677 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0006739 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0006766 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0011040 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0012397 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0030445 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0100324 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0100578 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome HP:0100678 ORPHA:363618 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0000962 ORPHA:79151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0008404 ORPHA:79151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0025092 ORPHA:79151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0025114 ORPHA:79151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0025512 ORPHA:79151 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0001820 ORPHA:79151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0007530 ORPHA:79151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0200035 ORPHA:79151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0200043 ORPHA:79151 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0001798 ORPHA:79151 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0001036 ORPHA:79151 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79151 Acrokeratosis verruciformis of Hopf HP:0100792 ORPHA:79151 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79152 Disseminated superficial actinic porokeratosis HP:0200044 ORPHA:79152 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79152 Disseminated superficial actinic porokeratosis HP:0000992 ORPHA:79152 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79152 Disseminated superficial actinic porokeratosis HP:0000989 ORPHA:79152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79152 Disseminated superficial actinic porokeratosis HP:0002860 ORPHA:79152 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0008404 ORPHA:79153 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0001598 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0001803 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0001807 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0001808 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0001816 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0100798 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0100803 ORPHA:79153 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0002232 ORPHA:79153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0008399 ORPHA:79153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0100797 ORPHA:79153 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0001045 ORPHA:79153 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0001047 ORPHA:79153 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0001973 ORPHA:79153 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0008064 ORPHA:79153 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0011034 ORPHA:79153 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79153 Idiopathic trachyonychia HP:0012531 ORPHA:79153 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000252 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000301 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000347 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000363 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000369 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000405 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000407 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000413 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000494 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000538 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000581 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000601 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000674 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000683 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000684 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000689 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000767 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000824 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0001245 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0001508 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0001518 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0001773 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0001831 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0001852 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0002705 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0002750 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0002751 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0004322 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0006143 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0006184 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0007481 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0000286 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0009381 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0010049 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0010487 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0010765 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0011069 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0012428 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0012725 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0012810 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0030842 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2980 Acrootoocular syndrome HP:0001249 ORPHA:2980 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0001298 ORPHA:79155 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0004365 ORPHA:79155 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0000733 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0000958 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0001249 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0001263 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0001276 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0001649 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0001942 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0001947 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0002315 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0002615 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0005957 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0008527 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0010280 ORPHA:79155 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0001259 ORPHA:79155 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79155 Hydroxykynureninuria HP:0002448 ORPHA:79155 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1659 Dermatoleukodystrophy HP:0000962 ORPHA:1659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1659 Dermatoleukodystrophy HP:0001072 ORPHA:1659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1659 Dermatoleukodystrophy HP:0001249 ORPHA:1659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1659 Dermatoleukodystrophy HP:0001315 ORPHA:1659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1659 Dermatoleukodystrophy HP:0001347 ORPHA:1659 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1659 Dermatoleukodystrophy HP:0012639 ORPHA:1659 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome HP:0001249 ORPHA:79156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome HP:0002123 ORPHA:79156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome HP:0003355 ORPHA:79156 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0000963 ORPHA:1658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0000966 ORPHA:1658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0000988 ORPHA:1658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0001056 ORPHA:1658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0001072 ORPHA:1658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0007477 ORPHA:1658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0008066 ORPHA:1658 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0009775 ORPHA:1658 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1658 Absence of fingerprints-congenital milia syndrome HP:0100490 ORPHA:1658 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000046 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000135 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000233 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000271 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000322 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000368 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000470 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000490 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0000664 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0001249 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0002162 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0002714 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0002808 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0002857 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0003196 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0003298 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0004349 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0006610 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0008551 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0008625 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0008736 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0010306 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2983 Disorder of sex development-intellectual disability syndrome HP:0010720 ORPHA:2983 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000164 ORPHA:1657 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000491 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000662 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000677 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000940 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0000944 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001155 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001156 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001597 ORPHA:1657 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001760 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001810 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0001945 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0002650 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0002758 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0002797 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0002829 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0003019 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0008065 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0008368 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0008391 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1657 Dermatoosteolysis, Kirghizian type HP:0200042 ORPHA:1657 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0000964 ORPHA:1656 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0000969 ORPHA:1656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0000989 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0001025 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0001935 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0002024 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0002653 ORPHA:1656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0002757 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0002960 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0008066 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0010783 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0012733 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0100725 ORPHA:1656 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1656 Dermatitis herpetiformis HP:0200037 ORPHA:1656 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0003215 ORPHA:79159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0003234 ORPHA:79159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0045045 ORPHA:79159 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0000750 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0001252 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0001642 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0001644 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0001944 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0002013 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0011342 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79159 Isobutyryl-CoA dehydrogenase deficiency HP:0012734 ORPHA:79159 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0000561 ORPHA:2985 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0001249 ORPHA:2985 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0002223 ORPHA:2985 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0000252 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0000320 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0000444 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0000501 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0045075 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0000963 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0008070 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0001387 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0001508 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0001510 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0001596 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0002478 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0004322 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0004325 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0004423 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0008070 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0009745 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2985 Pseudoprogeria syndrome HP:0011832 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000023 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000028 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000126 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000130 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000148 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000218 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000219 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000316 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000319 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000347 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000369 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000455 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000470 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000494 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000774 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000998 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001090 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001162 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001290 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001399 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001433 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001541 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001561 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001629 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0001744 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0002119 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0002240 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0002901 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0003075 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0003270 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0005469 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0005989 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0006273 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0006521 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0008897 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0009085 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0011027 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0011800 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0012210 ORPHA:1655 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000054 ORPHA:1655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0002243 ORPHA:1655 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001029 ORPHA:221008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001118 ORPHA:221008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000028 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000164 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000519 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000953 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001009 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001010 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001041 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001510 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001518 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002164 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0004322 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0004334 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0005775 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0008070 ORPHA:221008 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000135 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000282 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000670 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000682 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000684 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000691 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000821 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001249 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001263 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001875 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001903 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002013 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002014 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002863 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0007018 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0007418 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0007556 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0008066 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0008069 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0008209 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0009804 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0010978 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0012719 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0020110 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0031367 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0040288 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0100671 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0100840 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0200102 ORPHA:221008 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0000938 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001909 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0001915 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002669 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002671 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002750 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002860 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002861 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0002970 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0003065 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0003761 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0003995 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0004039 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0004979 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0006443 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0009700 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0009803 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0010049 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:221008 Rothmund-Thomson syndrome type 1 HP:0200044 ORPHA:221008 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0000668 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001260 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001347 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002066 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002380 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002395 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002497 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002500 ORPHA:397946 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0000252 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0000666 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001257 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001310 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001337 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002072 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002169 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002359 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0003487 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0003693 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0004322 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0011096 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0025357 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0030187 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001256 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001263 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002080 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002317 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0007256 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0030051 ORPHA:397946 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0000473 ORPHA:397946 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0001272 ORPHA:397946 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0002059 ORPHA:397946 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0007663 ORPHA:397946 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0009830 ORPHA:397946 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0010848 ORPHA:64280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0011147 ORPHA:64280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0000980 ORPHA:64280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0007018 ORPHA:64280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0000716 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0000739 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0001249 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0001328 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0002069 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0002373 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0002883 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0007738 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0010522 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0010794 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0011150 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0012433 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0030218 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0031469 ORPHA:64280 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0000020 ORPHA:64280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0006961 ORPHA:64280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:64280 Childhood absence epilepsy HP:0045084 ORPHA:64280 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0001249 ORPHA:397941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0001263 ORPHA:397941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0001999 ORPHA:397941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0008947 ORPHA:397941 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000316 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000369 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000400 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000494 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0001256 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0001956 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0002465 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0012301 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0012443 ORPHA:397941 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000219 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000268 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000272 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000307 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000319 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000322 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000331 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000431 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000445 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000448 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000470 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000540 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000708 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000717 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000768 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000973 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0001250 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0001321 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0001382 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0002007 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0002136 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0002342 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0002591 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0003186 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0004523 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0010801 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0010814 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0010864 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0045075 ORPHA:397941 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000276 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000286 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0000527 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0002322 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0004209 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0004691 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0005469 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0007165 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0007565 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0012471 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:397941 MAN1B1-CDG HP:0012472 ORPHA:397941 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0000077 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0000083 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0000522 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0000545 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0000615 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0000648 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0000708 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0000822 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0000966 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0000975 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0001063 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0001100 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0001250 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0001251 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0001252 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0001265 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0001278 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0001288 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0001510 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0001649 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0002020 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0002047 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0002103 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0002205 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0002585 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0002650 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0002757 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0002797 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0002902 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0003457 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0007328 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0007957 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0008872 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0009830 ORPHA:1764 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0010885 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0100820 ORPHA:1764 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1764 Familial dysautonomia HP:0200020 ORPHA:1764 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000028 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000047 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000508 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000767 ORPHA:1762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0001288 ORPHA:1762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0001387 ORPHA:1762 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0002167 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0002750 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0002916 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0004299 ORPHA:1762 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0004322 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0010864 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000232 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000286 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0000581 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0001263 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0010804 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1762 Proximal Xq28 duplication syndrome HP:0011344 ORPHA:1762 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0003474 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0003560 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001761 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0009053 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0100543 ORPHA:459033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0002442 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0010522 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0000736 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001513 ORPHA:459033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001009 ORPHA:459033 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0007141 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0002751 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0000570 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001260 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001251 ORPHA:459033 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0000657 ORPHA:459033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0009830 ORPHA:459033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001332 ORPHA:459033 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0002172 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0001780 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459033 Ataxia-oculomotor apraxia type 4 HP:0008955 ORPHA:459033 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000098 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000158 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000179 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000276 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000280 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000293 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000303 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000337 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000400 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000445 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000830 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000845 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000870 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000975 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0001072 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0001176 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0001182 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0001386 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0001769 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0001869 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0002758 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0002829 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0003859 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0004099 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0006191 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0012378 ORPHA:314769 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000044 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000141 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000164 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000664 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000687 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000716 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000739 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000819 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000822 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0001231 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0001609 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0002007 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0002076 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0002230 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0002808 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0002893 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0003401 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0003416 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0006767 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0008388 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0010535 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0011760 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0012802 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0100021 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0100540 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0100607 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0100829 ORPHA:314769 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000802 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0000956 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0001639 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0001653 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0007440 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0100518 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314769 Somatomammotropinoma HP:0100786 ORPHA:314769 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0000014 ORPHA:247604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0000763 ORPHA:247604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0001257 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0001285 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0001324 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0001347 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0002015 ORPHA:247604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0002064 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0002127 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0002141 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0002193 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0002371 ORPHA:247604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0002464 ORPHA:247604 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0003202 ORPHA:247604 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247604 Juvenile primary lateral sclerosis HP:0007256 ORPHA:247604 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0000662 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0000939 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0000952 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0000989 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001080 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001394 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001508 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001744 ORPHA:79301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001892 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0001928 ORPHA:79301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0002024 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0002239 ORPHA:79301 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0002240 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0002910 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0006566 ORPHA:79301 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79301 Congenital bile acid synthesis defect type 1 HP:0009830 ORPHA:79301 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0000478 ORPHA:1766 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0000486 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0000504 ORPHA:1766 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0000518 ORPHA:1766 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0001249 ORPHA:1766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0001250 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0001251 ORPHA:1766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0001252 ORPHA:1766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0001288 ORPHA:1766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0001347 ORPHA:1766 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0003202 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0004322 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0100021 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1766 Dysequilibrium syndrome HP:0100022 ORPHA:1766 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0000952 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0001394 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0001396 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0001399 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0001408 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0001433 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0002630 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0002904 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0003155 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0031956 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0031964 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79302 Congenital bile acid synthesis defect type 3 HP:0100508 ORPHA:79302 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000093 ORPHA:1765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000112 ORPHA:1765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000486 ORPHA:1765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000691 ORPHA:1765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000708 ORPHA:1765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0000790 ORPHA:1765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0001511 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0002983 ORPHA:1765 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0002986 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0003031 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0003067 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0004322 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0006501 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0007957 ORPHA:1765 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1765 Dyschondrosteosis-nephritis syndrome HP:0008845 ORPHA:1765 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002904 ORPHA:79303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0012379 ORPHA:79303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0200084 ORPHA:79303 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0000952 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0001396 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0001397 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0001399 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0001508 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0001978 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002240 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002570 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002630 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002908 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002910 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0003155 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0003256 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0003645 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0006579 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0008151 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0008897 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0025435 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0030984 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0040319 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0100513 ORPHA:79303 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0000107 ORPHA:79303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0002748 ORPHA:79303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79303 Congenital bile acid synthesis defect type 2 HP:0011040 ORPHA:79303 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0001067 ORPHA:252183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0007470 ORPHA:252183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0009732 ORPHA:252183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0012645 ORPHA:252183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0100698 ORPHA:252183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0001291 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0003406 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0003416 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0006751 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0006851 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0009735 ORPHA:252183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0000256 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0000403 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0002584 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0002751 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0005220 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0007524 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0007576 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0009593 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0011801 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0012289 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0012440 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0100010 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0100013 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0100527 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0100551 ORPHA:252183 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0000995 ORPHA:252183 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:252183 Neurofibroma HP:0010609 ORPHA:252183 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0003150 ORPHA:35706 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0011021 ORPHA:35706 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0000960 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0001254 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0001263 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0001328 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0001508 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0001993 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0002500 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0002518 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0002919 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0003530 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35706 Glutaric acidemia type 3 HP:0100710 ORPHA:35706 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002104 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002240 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002376 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002483 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002883 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003348 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003481 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003737 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0004885 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0007108 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0012469 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0031434 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0031546 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0100611 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003200 ORPHA:255210 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003572 ORPHA:255210 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000816 ORPHA:255210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002490 ORPHA:255210 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000580 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000597 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001250 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001251 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001257 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001276 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001324 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001332 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001508 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002066 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002069 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002072 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002123 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002151 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002572 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0003648 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0007141 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0007183 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0008947 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0011344 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0100660 ORPHA:255210 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000091 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000407 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000510 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000639 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0000648 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001265 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001347 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001399 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001639 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001644 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0001945 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002015 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002045 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome HP:0002094 ORPHA:255210 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0000716 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0000726 ORPHA:178509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0000741 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0000751 ORPHA:178509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0001300 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0001337 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0001824 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0002071 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0002360 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0002615 ORPHA:178509 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:178509 Perry syndrome HP:0007110 ORPHA:178509 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency HP:0001250 ORPHA:35701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency HP:0001939 ORPHA:35701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency HP:0001943 ORPHA:35701 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001249 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001257 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001263 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001344 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001347 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0002079 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0002465 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0003487 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0005484 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0007256 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0012448 ORPHA:397951 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0000238 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0000577 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0000666 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001647 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001760 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0002059 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0007703 ORPHA:397951 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000256 ORPHA:357001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0001999 ORPHA:357001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0011220 ORPHA:357001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000276 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000463 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000486 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000494 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000767 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0001249 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0001263 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0007018 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0012719 ORPHA:357001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000158 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000160 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000218 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000219 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000248 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000268 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000272 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000286 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000316 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000319 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000369 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000400 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000490 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000527 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000609 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000639 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000648 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0000957 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0001250 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0001763 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0001852 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0001869 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0002013 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0002014 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0002027 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0003196 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0003396 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0005280 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0007099 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0007333 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0007371 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0010880 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0011968 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0030084 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357001 19p13.13 microdeletion syndrome HP:0100807 ORPHA:357001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0000817 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001251 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001256 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001260 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001263 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001310 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001332 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0001347 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002061 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002079 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002080 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002355 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002421 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0006808 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0006895 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0007153 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0007281 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0009062 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0030890 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0000252 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002013 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002151 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0002506 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0007024 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0007179 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0007359 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0000639 ORPHA:438114 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002027 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002019 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0012378 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002239 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0012174 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002024 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0001824 ORPHA:440437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0000739 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0007018 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0000708 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0000716 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0001276 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002516 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0000737 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002076 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0001252 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002017 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0100743 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0001250 ORPHA:440437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0007256 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0012113 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0010524 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0100576 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002671 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0100835 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0100571 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002376 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0001260 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0010526 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0100660 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0001371 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0001288 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0000738 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0004374 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0001402 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002354 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002894 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0010622 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0100031 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0003006 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002167 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0100615 ORPHA:440437 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0006725 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0003401 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0002893 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0010786 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0001123 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0000505 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0010784 ORPHA:440437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0012126 ORPHA:440437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0100013 ORPHA:440437 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0100273 ORPHA:440437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:440437 Familial colorectal cancer Type X HP:0009726 ORPHA:440437 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000028 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000175 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000190 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000202 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000218 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000232 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000316 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000347 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000348 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000368 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000411 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000431 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000470 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0000582 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0001156 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0001263 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0001328 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0001387 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0002475 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0030680 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0002916 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0006191 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0008736 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0010751 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0100335 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0100490 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0100627 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0100818 ORPHA:1752 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0010297 ORPHA:1752 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1752 Trisomy 8q HP:0012062 ORPHA:1752 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0001508 ORPHA:35710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0001824 ORPHA:35710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0001944 ORPHA:35710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0002014 ORPHA:35710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0003228 ORPHA:35710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0003270 ORPHA:35710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0004395 ORPHA:35710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0000083 ORPHA:35710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0000787 ORPHA:35710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0002013 ORPHA:35710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0003072 ORPHA:35710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0030143 ORPHA:35710 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0000790 ORPHA:35710 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:35710 Glucose-galactose malabsorption HP:0001945 ORPHA:35710 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0000921 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0001651 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0001702 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0002093 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0002240 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0002435 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0002566 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0007477 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0100490 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0100555 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0100563 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1759 Thoraco-abdominal enteric duplication HP:0100867 ORPHA:1759 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1757 Fibular dimelia-diplopodia syndrome HP:0009556 ORPHA:1757 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1757 Fibular dimelia-diplopodia syndrome HP:0000271 ORPHA:1757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1757 Fibular dimelia-diplopodia syndrome HP:0030736 ORPHA:1757 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0000028 ORPHA:1756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0000036 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0000073 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0000078 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0001539 ORPHA:1756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0002414 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0002475 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0003422 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0003762 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0005107 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0008678 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0009791 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0100561 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0100589 ORPHA:1756 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1756 Caudal duplication HP:0100668 ORPHA:1756 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35737 Morning glory disc anomaly HP:0000486 ORPHA:35737 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35737 Morning glory disc anomaly HP:0000518 ORPHA:35737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35737 Morning glory disc anomaly HP:0000541 ORPHA:35737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35737 Morning glory disc anomaly HP:0000588 ORPHA:35737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35737 Morning glory disc anomaly HP:0000639 ORPHA:35737 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35737 Morning glory disc anomaly HP:0000646 ORPHA:35737 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35737 Morning glory disc anomaly HP:0007703 ORPHA:35737 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000093 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000280 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000943 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001371 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001433 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001873 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001903 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002086 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002205 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001263 ORPHA:505248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000100 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000158 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000648 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001072 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001265 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001344 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001387 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001627 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001631 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001635 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001639 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001643 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001649 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001882 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002092 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002098 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002159 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002540 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0003073 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0003541 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0006536 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0031123 ORPHA:505248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000105 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000238 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000286 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000293 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000470 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000506 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000509 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000527 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000629 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000639 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000768 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000998 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001252 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001552 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001653 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001655 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0001928 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002514 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002652 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002938 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0002942 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0003196 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0003496 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0004315 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0005180 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0005528 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0006191 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0007703 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0008454 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0010307 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0011220 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0012444 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0012448 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0012471 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0012597 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0100790 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0100806 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0100874 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0410263 ORPHA:505248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231237 Delta-beta-thalassemia HP:0001903 ORPHA:231237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231237 Delta-beta-thalassemia HP:0001935 ORPHA:231237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231237 Delta-beta-thalassemia HP:0011902 ORPHA:231237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0000549 ORPHA:363710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002396 ORPHA:363710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002527 ORPHA:363710 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0000407 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0000666 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0001288 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0001336 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0001337 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002075 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002078 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002167 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002168 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0002406 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0003474 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0006855 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363710 Spinocerebellar ataxia type 37 HP:0100275 ORPHA:363710 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0000256 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0000268 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0000311 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0000316 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0000411 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0000508 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0005916 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0001513 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0002007 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0002119 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0002376 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0002650 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0002916 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0004322 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0008678 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0008736 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1742 Trisomy 5p HP:0010864 ORPHA:1742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0001263 ORPHA:485350 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000708 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0001250 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002120 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002342 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002500 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0010864 ORPHA:485350 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000252 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000256 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000486 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000716 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000718 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000722 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000729 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000739 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000752 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0001336 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002020 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002061 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002069 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002073 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002079 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002119 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002121 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002384 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002650 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0006970 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0007302 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0008947 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0011167 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0011193 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0011968 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0012448 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0012469 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0100704 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0100716 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000023 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000028 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000276 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000307 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0001763 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002072 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0002317 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0006986 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0011800 ORPHA:485350 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000079 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000089 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000126 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000160 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000233 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000307 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000347 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000369 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000426 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000470 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000486 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000499 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000508 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000518 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000581 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000639 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000958 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0000960 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0001263 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0001511 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0002007 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0002101 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0002213 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0030680 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0002916 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0004322 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0006610 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0008056 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0009896 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0009906 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0011362 ORPHA:1745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0100790 ORPHA:1745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1745 Distal trisomy 6p HP:0100818 ORPHA:1745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231242 Hemoglobin C-beta-thalassemia syndrome HP:0001744 ORPHA:231242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231242 Hemoglobin C-beta-thalassemia syndrome HP:0001903 ORPHA:231242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231242 Hemoglobin C-beta-thalassemia syndrome HP:0001935 ORPHA:231242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231242 Hemoglobin C-beta-thalassemia syndrome HP:0011902 ORPHA:231242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0000197 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0000364 ORPHA:252164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0000769 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0000834 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0001291 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0001392 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0001600 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0002011 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0002031 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0002321 ORPHA:252164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0002991 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0003489 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0009588 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0009593 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0009911 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0010628 ORPHA:252164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0010826 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0012531 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0030177 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0012533 ORPHA:252164 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0100008 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0100011 ORPHA:252164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0100582 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0100697 ORPHA:252164 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:252164 Benign schwannoma HP:0200008 ORPHA:252164 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000253 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000708 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000735 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0001250 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0001252 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0001263 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0002376 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0010864 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0012171 ORPHA:397933 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000347 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000400 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000486 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000666 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0001344 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0002487 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0030215 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0100716 ORPHA:397933 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231249 Hemoglobin E-beta-thalassemia syndrome HP:0001903 ORPHA:231249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231249 Hemoglobin E-beta-thalassemia syndrome HP:0002721 ORPHA:231249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231249 Hemoglobin E-beta-thalassemia syndrome HP:0003281 ORPHA:231249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231249 Hemoglobin E-beta-thalassemia syndrome HP:0011902 ORPHA:231249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000316 ORPHA:363700 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000957 ORPHA:363700 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000256 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000280 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000475 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000924 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000997 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001176 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001252 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001328 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001382 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001627 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001833 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001999 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002650 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0007018 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0009088 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0009737 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0011407 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0012062 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0012758 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0030052 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0100698 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0410263 ORPHA:363700 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000218 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000276 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000286 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000324 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000341 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000343 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000347 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000411 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000601 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000767 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001249 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001250 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001263 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001761 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002057 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002079 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002857 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0004322 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0006479 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0009734 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0009735 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0010794 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0012210 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0012471 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0100697 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0430022 ORPHA:363700 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000126 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000238 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000246 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001028 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001629 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001631 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001634 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001639 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001642 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001653 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0001655 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002315 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002751 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0002992 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0003307 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0008678 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0012733 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0020035 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0030426 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0032252 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0100008 ORPHA:363700 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000280 ORPHA:363705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000998 ORPHA:363705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0004540 ORPHA:363705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0100874 ORPHA:363705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000343 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000969 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000973 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001015 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001250 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001252 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001263 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001388 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001561 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001622 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001640 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001643 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001698 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002020 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002076 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002094 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002098 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002315 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0003546 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0005280 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0007517 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0030890 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0100678 ORPHA:363705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000158 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000286 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000294 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000316 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000520 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000768 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001269 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001297 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001328 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001520 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001635 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001650 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001653 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001654 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002092 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002239 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002579 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002650 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002652 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002708 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0004322 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0004532 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0004944 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0005314 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0006094 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0011220 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0011675 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0011726 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0012471 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0012568 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0100659 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0100790 ORPHA:363705 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000212 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000938 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0000939 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001176 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001256 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001629 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001631 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001647 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0001680 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363705 Craniofaciofrontodigital syndrome HP:0002021 ORPHA:363705 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0000708 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001328 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002069 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002421 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0008947 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0010844 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0010864 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0012736 ORPHA:289266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001265 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001276 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001336 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001518 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001761 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0001999 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002079 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002342 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002373 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0002506 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0003196 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0004322 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0005484 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0009062 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0010818 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0011097 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0011451 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0012171 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0012447 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0012547 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0007359 ORPHA:289266 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85197 Genochondromatosis type 1 HP:0000889 ORPHA:85197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85197 Genochondromatosis type 1 HP:0002815 ORPHA:85197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85197 Genochondromatosis type 1 HP:0005701 ORPHA:85197 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0000926 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0001249 ORPHA:85198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0001373 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0002514 ORPHA:85198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0002650 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0002657 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0002750 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0002751 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0002758 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0002761 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0002857 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0002879 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0002991 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0003037 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0003422 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0004039 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0004322 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0005701 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0005868 ORPHA:85198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0012221 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0100559 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0100777 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85198 Dysspondyloenchondromatosis HP:0200041 ORPHA:85198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000047 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000174 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000248 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000260 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000270 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000561 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000682 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000889 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000964 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002007 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002023 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002223 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002697 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002750 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0004397 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0004440 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0004491 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0006482 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0006660 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0008368 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0010306 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0012742 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0100589 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0200044 ORPHA:85199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000154 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000272 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000347 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000365 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000520 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0001249 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0001263 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0012471 ORPHA:85199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000175 ORPHA:85199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0001357 ORPHA:85199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0002808 ORPHA:85199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85193 Idiopathic juvenile osteoporosis HP:0000939 ORPHA:85193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85193 Idiopathic juvenile osteoporosis HP:0001288 ORPHA:85193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85193 Idiopathic juvenile osteoporosis HP:0002653 ORPHA:85193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85193 Idiopathic juvenile osteoporosis HP:0002757 ORPHA:85193 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85193 Idiopathic juvenile osteoporosis HP:0002808 ORPHA:85193 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85193 Idiopathic juvenile osteoporosis HP:0002953 ORPHA:85193 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000233 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000297 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000316 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000343 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000369 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000391 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000465 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000470 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000518 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000534 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000541 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000545 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000568 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000572 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000639 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000926 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000939 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0000974 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0001249 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0001629 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0001763 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0002162 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0002942 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0003521 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0004322 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0004467 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0005108 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0005692 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0007730 ORPHA:85194 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0008063 ORPHA:85194 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85194 Spondylo-ocular syndrome HP:0009738 ORPHA:85194 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000028 ORPHA:1738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000047 ORPHA:1738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000164 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000174 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000252 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000294 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000311 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000316 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000319 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000368 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000400 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000470 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000486 ORPHA:1738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000574 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000581 ORPHA:1738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0000670 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0001177 ORPHA:1738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0001252 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0030680 ORPHA:1738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0002650 ORPHA:1738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0002750 ORPHA:1738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0002916 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0004059 ORPHA:1738 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0004322 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0005280 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0006610 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0009738 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0010720 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0100490 ORPHA:1738 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1738 Trisomy 4p HP:0100543 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000202 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000238 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000276 ORPHA:475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000369 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000426 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000463 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000486 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000508 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000612 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000639 ORPHA:475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000657 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0000864 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001161 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001249 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001250 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001251 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001252 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001263 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001288 ORPHA:475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001320 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001337 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001696 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0001829 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0002084 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0002104 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0002126 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0002251 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0002269 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0002553 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0030680 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0002650 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0002793 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0002876 ORPHA:475 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0003312 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0004422 ORPHA:475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0007370 ORPHA:475 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:475 Joubert syndrome HP:0008872 ORPHA:475 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0000083 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0000090 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0000112 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0000766 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0000772 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0000774 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0000889 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0000944 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0001156 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0001162 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0001392 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0001770 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0001773 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0001830 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0002093 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0002644 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0002652 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0002983 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0004322 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0006703 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0007703 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0008872 ORPHA:474 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0010306 ORPHA:474 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:474 Jeune syndrome HP:0010579 ORPHA:474 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0011496 ORPHA:477 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0000164 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0000399 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0000491 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0000509 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0000572 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0000613 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0000653 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0000982 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0001097 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0001581 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0004552 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0005328 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0007431 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0007502 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0008070 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0008404 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0008625 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0011859 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0025092 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0032107 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0040189 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0045075 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0200020 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0200035 ORPHA:477 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0000966 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0001369 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0001508 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0001805 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0003765 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0005401 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0005406 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0008038 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0008897 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0011370 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0012758 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0025084 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0025610 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0030318 ORPHA:477 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0000230 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0001305 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0001320 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0001999 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0002673 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0002860 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0003065 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0006380 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0008069 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0008138 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0008788 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0009830 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0011220 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0012844 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0030839 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0031250 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0040154 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0100648 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0100806 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0100838 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:477 KID syndrome HP:0200036 ORPHA:477 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001508 ORPHA:470 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0000091 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0000093 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0000099 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0000938 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0000939 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001249 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001394 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001399 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001433 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001873 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001882 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001892 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001903 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001987 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002013 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002014 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002093 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002154 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002155 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002240 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002570 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002750 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002910 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003124 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003141 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003217 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003233 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003268 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003297 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003348 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0006517 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0008358 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0008947 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0011966 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0011968 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0012156 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0012213 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0012278 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0012523 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0025435 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0031020 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0100543 ORPHA:470 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001254 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001259 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001627 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001733 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001917 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0001970 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003218 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003281 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003532 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0005368 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0011424 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0011900 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0012280 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0012578 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0030760 ORPHA:470 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0000824 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002718 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0002756 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0003493 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0004313 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0004431 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:470 Lysinuric protein intolerance HP:0010702 ORPHA:470 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0000093 ORPHA:567548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0003073 ORPHA:567548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0003119 ORPHA:567548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0031265 ORPHA:567548 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0000097 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0000969 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0002155 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0003124 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0012579 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0100724 ORPHA:567548 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0001919 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0001945 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0002027 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0002315 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0003774 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0011947 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0012590 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0031504 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0100539 ORPHA:567548 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0001510 ORPHA:567548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0001967 ORPHA:567548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0002204 ORPHA:567548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0002586 ORPHA:567548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome HP:0004936 ORPHA:567548 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0000938 ORPHA:29073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0002756 ORPHA:29073 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0000100 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0000112 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0001903 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0001919 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0002152 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0002653 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0003237 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0003259 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0003324 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0004313 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0012378 ORPHA:29073 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0000014 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0000098 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0001824 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0002176 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0002953 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0003072 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0003261 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0003401 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0004341 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0012719 ORPHA:29073 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0001744 ORPHA:29073 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0002202 ORPHA:29073 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:29073 Multiple myeloma HP:0002716 ORPHA:29073 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000980 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0004823 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0004840 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0010972 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0011904 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0011905 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0025066 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0025547 ORPHA:231214 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000164 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000939 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000953 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001510 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001531 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001744 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001971 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001978 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0002094 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0002240 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0002857 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0006487 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0009004 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0011031 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0011842 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0011968 ORPHA:231214 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000582 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000737 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000819 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000821 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000823 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000829 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000952 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001394 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001395 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001433 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001644 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001722 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001954 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0002007 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0002014 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0002829 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0004936 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0005280 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0010620 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0031035 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0040075 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0200042 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0430028 ORPHA:231214 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0000846 ORPHA:231214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0001402 ORPHA:231214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231214 Beta-thalassemia major HP:0011675 ORPHA:231214 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000969 ORPHA:567546 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012592 ORPHA:567546 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000097 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000282 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0003073 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0003077 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0010741 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012378 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012622 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0100540 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0100724 ORPHA:567546 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000034 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000822 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0002027 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0002094 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0002907 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0003774 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0011947 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012393 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012579 ORPHA:567546 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0001541 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0002202 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0002204 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0004420 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0004431 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0004936 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012050 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0012587 ORPHA:567546 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0000571 ORPHA:527497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0000639 ORPHA:527497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001251 ORPHA:527497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0007256 ORPHA:527497 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001260 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001263 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001290 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001332 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001347 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002191 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002355 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002415 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002599 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0003429 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0007704 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0030890 ORPHA:527497 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0000486 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001007 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001250 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001272 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002059 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002650 ORPHA:527497 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0001249 ORPHA:527497 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0002079 ORPHA:527497 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0012534 ORPHA:527497 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000093 ORPHA:567544 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000083 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000100 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000822 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0004431 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0005421 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0045042 ORPHA:567544 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000099 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000155 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000988 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0001369 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0001919 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0001966 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0002907 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0003259 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0012576 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0045073 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0100769 ORPHA:567544 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0000707 ORPHA:567544 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0002715 ORPHA:567544 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0002960 ORPHA:567544 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:567544 Idiopathic non-lupus full-house nephropathy HP:0020151 ORPHA:567544 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002668 ORPHA:29072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0006737 ORPHA:29072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0006748 ORPHA:29072 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000093 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000096 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000740 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001069 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001095 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001342 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001618 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001824 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001962 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002018 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002331 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002574 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002640 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0002864 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0003072 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0003345 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0003574 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0003639 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0008629 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0010532 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0011703 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0011979 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0012378 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0031284 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0100749 ORPHA:29072 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000405 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000790 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000980 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001293 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001337 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001605 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0001635 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0003528 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0005584 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0009711 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0012222 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0025269 ORPHA:29072 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29072 Hereditary pheochromocytoma-paraganglioma HP:0000526 ORPHA:29072 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0000256 ORPHA:459074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0000337 ORPHA:459074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0001274 ORPHA:459074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0000316 ORPHA:459074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0001256 ORPHA:459074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0001357 ORPHA:459074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0007099 ORPHA:459074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0000324 ORPHA:459074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0002197 ORPHA:459074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0006889 ORPHA:459074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000126 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000175 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000252 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000275 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000286 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000316 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000319 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000347 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000348 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000365 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000445 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000457 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000494 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000508 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000600 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000717 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000722 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000733 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000739 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0000750 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0001249 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0001250 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0001252 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0001263 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0001510 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0001611 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0001629 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0001636 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0001669 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0002167 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0002650 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0004383 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0007018 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0008661 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0009908 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0010515 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0010978 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0011611 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0011800 ORPHA:1727 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1727 22q11.2 duplication syndrome HP:0100627 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001250 ORPHA:459070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001999 ORPHA:459070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0010864 ORPHA:459070 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000028 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000252 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000303 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000400 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000717 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000750 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001251 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001321 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001344 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001510 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002020 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002650 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002655 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0008947 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0040080 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000023 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000047 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000160 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000219 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000232 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000268 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000276 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000286 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000308 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000319 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000337 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000343 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000369 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000407 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000411 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000510 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000545 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000577 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000823 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000939 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000954 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000960 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001007 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001182 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001561 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001601 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001629 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001631 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001770 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002069 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002373 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002540 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0002719 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0004209 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0004415 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0005750 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0006698 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0008734 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0009381 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0010818 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0012032 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0012811 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0031535 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0007359 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0045025 ORPHA:459070 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0008947 ORPHA:1724 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000278 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0002143 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0007483 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0007535 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0011342 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0012450 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0200021 ORPHA:1724 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000028 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000077 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000085 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000175 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000347 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000365 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000472 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000486 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000582 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000750 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0000774 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0001260 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0001270 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0001328 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0001511 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0001629 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0001633 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0002650 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0002808 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0002948 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0002949 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0003416 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0003422 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0004484 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0006394 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0006610 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0001252 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0030084 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0030732 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0410030 ORPHA:1724 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1724 Mosaic trisomy 20 HP:0001249 ORPHA:1724 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000327 ORPHA:79345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003196 ORPHA:79345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0009882 ORPHA:79345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0012379 ORPHA:79345 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000410 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000455 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000457 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000925 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001857 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002000 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003508 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008420 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008897 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010655 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010666 ORPHA:79345 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000919 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001742 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002099 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002205 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002341 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002643 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002777 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002787 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002789 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002871 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002947 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003316 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003320 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003416 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003417 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0003467 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0004695 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0004887 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008417 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008434 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008445 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008469 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0008754 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0009107 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0009928 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010171 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010255 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010646 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001263 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0025426 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:3000052 ORPHA:79345 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000518 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0000609 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001629 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001631 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0001643 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0002020 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0004415 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0007766 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0011968 ORPHA:79345 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0010880 ORPHA:79345 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0002027 ORPHA:469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0012545 ORPHA:469 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0001510 ORPHA:469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0002014 ORPHA:469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0002018 ORPHA:469 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0000083 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0000952 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0001069 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0001942 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0002013 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0002019 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0002148 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0002149 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0002240 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0002918 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0003256 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0003270 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0012051 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0012622 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0100626 ORPHA:469 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0000518 ORPHA:469 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0001250 ORPHA:469 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0001254 ORPHA:469 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:469 Hereditary fructose intolerance HP:0001259 ORPHA:469 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000202 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000364 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000486 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000491 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000505 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000518 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000532 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000541 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000554 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000568 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000573 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000592 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000668 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000682 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000684 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000962 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000975 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0000988 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001000 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001053 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001231 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001249 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001250 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001252 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001257 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001263 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001288 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001537 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001595 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001596 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001597 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001635 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001804 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001810 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001821 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0001880 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0002092 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0002120 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0002383 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0002558 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0002637 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0002650 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0002797 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0003298 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0004050 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0004097 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0004322 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0004374 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0005815 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0005922 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0006101 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0006482 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0007018 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0007400 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0007850 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0007957 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0008066 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0008388 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0008402 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0010783 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0010978 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0100490 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0100543 ORPHA:464 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0100555 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0100585 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0200042 ORPHA:464 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464 Incontinentia pigmenti HP:0200043 ORPHA:464 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0003642 ORPHA:79326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0012379 ORPHA:79326 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0000252 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0000286 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0000431 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0000494 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0000518 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0000565 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0000612 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0000707 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0001249 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0001250 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0001263 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0001928 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0001999 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0002521 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0011344 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0002079 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0002240 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0006808 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0006956 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0012469 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0012704 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0012751 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79326 ALG2-CDG HP:0030890 ORPHA:79326 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001249 ORPHA:79327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001250 ORPHA:79327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001252 ORPHA:79327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001263 ORPHA:79327 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0000253 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0000478 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0000486 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0000924 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001256 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001871 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001999 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0002028 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0002650 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0003073 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0011024 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0011344 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0410263 ORPHA:79327 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0000077 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0000083 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0000100 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0000639 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001272 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001376 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001410 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001627 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0001638 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0002059 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0002243 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0002719 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0002721 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0002808 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0002878 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79327 ALG1-CDG HP:0100806 ORPHA:79327 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001249 ORPHA:79328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001250 ORPHA:79328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001263 ORPHA:79328 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000253 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001252 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001627 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001698 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002240 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002652 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0003186 ORPHA:79328 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000105 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000126 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000154 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000193 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000219 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000248 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000260 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000270 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000308 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000316 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000319 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000343 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000347 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000368 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000369 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000430 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000444 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000470 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000473 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000474 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000506 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000520 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000565 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000586 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000737 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000813 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0000998 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001272 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001347 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001405 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001407 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001539 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001558 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001562 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001629 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001631 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001762 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001789 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002007 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002013 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002014 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002020 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002059 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002061 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002089 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002099 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002101 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002162 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002265 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0002557 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0003015 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0003026 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0003196 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0003375 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0005133 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0005180 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0005280 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0005343 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0005487 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0007385 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0008724 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0008776 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0008905 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0009004 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0009125 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0009487 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0010763 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0011103 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0011473 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0011849 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0012448 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0012704 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0030215 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0032464 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0001234 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79328 ALG9-CDG HP:0100865 ORPHA:79328 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0011854 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0012233 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0100310 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0007420 ORPHA:465 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0001934 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0004846 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040228 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040230 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040245 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040248 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040249 ORPHA:465 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0000132 ORPHA:465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0001622 ORPHA:465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0001933 ORPHA:465 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0005268 ORPHA:465 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0000421 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0002170 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0002239 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0006298 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0011891 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0030657 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0040184 ORPHA:465 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0001058 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0001685 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency HP:0005261 ORPHA:465 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001263 ORPHA:79329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001999 ORPHA:79329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0003655 ORPHA:79329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000253 ORPHA:79329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001250 ORPHA:79329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001252 ORPHA:79329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001508 ORPHA:79329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000194 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000268 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000316 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000358 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000363 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000368 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000395 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000444 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000494 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000527 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000678 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000767 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000818 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0000938 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001007 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001156 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001290 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001627 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001629 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001643 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001789 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001892 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001929 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001965 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0002020 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0002098 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0002521 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0002557 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0002578 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0002650 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0002808 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0003186 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0003347 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0003540 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0004313 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0004315 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0005387 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0009765 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0010990 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0011471 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0011675 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0011968 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0012171 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0012444 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0012469 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0031381 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0200117 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0500173 ORPHA:79329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0001321 ORPHA:79329 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79329 MGAT2-CDG HP:0009830 ORPHA:79329 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001250 ORPHA:505237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0010864 ORPHA:505237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000218 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000219 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000248 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000252 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000276 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000278 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000343 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000365 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000369 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000400 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000426 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000445 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000470 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000494 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000527 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000637 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000960 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001182 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001187 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001263 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001290 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001344 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001508 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001511 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001762 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001845 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002119 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002540 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002553 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002650 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0003121 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0004322 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0004325 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0005469 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0007370 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0011304 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0011968 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000028 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000729 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001166 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001251 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001257 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001276 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001629 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001631 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001770 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002120 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0002510 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0008772 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0012450 ORPHA:505237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0100021 ORPHA:505237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000939 ORPHA:231222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0010972 ORPHA:231222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0011904 ORPHA:231222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0025066 ORPHA:231222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000924 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000952 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000980 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001978 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0002659 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0004349 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0011031 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0012132 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0045048 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0100724 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0200042 ORPHA:231222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000114 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000938 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001081 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001392 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001410 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001433 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001626 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001722 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001744 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001974 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0002092 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0002240 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0012465 ORPHA:231222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000135 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000819 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000821 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000829 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0000846 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001394 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0001402 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231222 Beta-thalassemia intermedia HP:0002176 ORPHA:231222 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001511 ORPHA:1708 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001518 ORPHA:1708 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001622 ORPHA:1708 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001627 ORPHA:1708 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0000047 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0000085 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0000119 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0000750 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0000765 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001159 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001195 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001263 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001629 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001631 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001643 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0002011 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0002089 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0004484 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0006267 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0009800 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0011024 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0011471 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0030084 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0100555 ORPHA:1708 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0000154 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0000365 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0000366 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0000954 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001250 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001545 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0001680 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0002088 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0002245 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0003319 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0005587 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0005773 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0009778 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0011470 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0011640 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0012372 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0031703 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1708 Mosaic trisomy 16 HP:0100864 ORPHA:1708 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:461 Recessive X-linked ichthyosis HP:0000028 ORPHA:461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:461 Recessive X-linked ichthyosis HP:0000717 ORPHA:461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:461 Recessive X-linked ichthyosis HP:0000958 ORPHA:461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:461 Recessive X-linked ichthyosis HP:0000962 ORPHA:461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:461 Recessive X-linked ichthyosis HP:0000966 ORPHA:461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:461 Recessive X-linked ichthyosis HP:0002167 ORPHA:461 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:461 Recessive X-linked ichthyosis HP:0007018 ORPHA:461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:461 Recessive X-linked ichthyosis HP:0007759 ORPHA:461 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:461 Recessive X-linked ichthyosis HP:0008064 ORPHA:461 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000028 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000098 ORPHA:1707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000218 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000252 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000340 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000343 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000347 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000426 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000508 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000581 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000767 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0001166 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0001249 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0001250 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0001276 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0001387 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0001539 ORPHA:1707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0002023 ORPHA:1707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0005988 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0100490 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000055 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000324 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000383 ORPHA:1707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000470 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0000494 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0001252 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0001511 ORPHA:1707 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0030680 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1707 Distal trisomy 15q HP:0002714 ORPHA:1707 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0011904 ORPHA:231226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0011905 ORPHA:231226 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000980 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001971 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001978 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0004840 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0011273 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0025066 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0025547 ORPHA:231226 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000164 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000737 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000819 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000821 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000823 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000829 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000939 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000952 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000953 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001394 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001395 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001433 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001510 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001531 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001744 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001954 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0002014 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0002094 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0002829 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0002857 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0004936 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0006487 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0009004 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0011031 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0011842 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0011968 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0031035 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0040075 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0200042 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0200123 ORPHA:231226 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000582 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0000846 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001402 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001644 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0001722 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0002007 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0005280 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0010620 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0011675 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231226 Dominant beta-thalassemia HP:0430028 ORPHA:231226 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000028 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000055 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000218 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000268 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000311 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000325 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000347 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000368 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000426 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000453 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000463 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000470 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000474 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000612 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000670 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0000767 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0001166 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0001176 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0001263 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0030680 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0003196 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0004097 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0004209 ORPHA:1716 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0004622 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0006482 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0007477 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0007598 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0008736 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0010720 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0100490 ORPHA:1716 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1716 Distal trisomy 18q HP:0100543 ORPHA:1716 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000278 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000445 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000527 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001007 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001250 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001999 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0002720 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0002850 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0003241 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0004313 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0008947 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0012745 ORPHA:79330 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000034 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000218 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000269 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000407 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000648 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000649 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000821 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0000969 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001332 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001433 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001561 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001596 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001631 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001640 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001712 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0001873 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0002079 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0002098 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0002104 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0002240 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0002286 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0002791 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0002943 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0004315 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0004463 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0007430 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0010557 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0012450 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0020110 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0031218 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0040288 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79330 MOGS-CDG HP:0100598 ORPHA:79330 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000160 ORPHA:1715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000233 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000252 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000340 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000347 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000377 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000384 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000430 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000431 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000506 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000581 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000582 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0000601 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0001167 ORPHA:1715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0001256 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0001319 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0004322 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0001511 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0001760 ORPHA:1715 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0002021 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0002553 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0030680 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0002591 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0002705 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0010628 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0007018 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0008689 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0030680 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1715 Trisomy 18p HP:0011800 ORPHA:1715 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0003236 ORPHA:79332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0008947 ORPHA:79332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0012301 ORPHA:79332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0012379 ORPHA:79332 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0000369 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0000431 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0000545 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0001976 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0001999 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0002910 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0003256 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0003563 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0003645 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0004855 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0005543 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0009062 ORPHA:79332 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0000219 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0000238 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0000316 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0000343 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0000821 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0000969 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0001305 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0001321 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0001518 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0001622 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0001744 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0001892 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0002014 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0002240 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0003186 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0005989 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0011003 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79332 B4GALT1-CDG HP:0011123 ORPHA:79332 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000154 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000252 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000316 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000325 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000337 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000347 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000365 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000368 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000494 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000600 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000717 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000739 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0001252 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0001256 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0001260 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0001263 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0001508 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0002020 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0002079 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0002353 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0002381 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0002474 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0030680 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0002650 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0002916 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0004322 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0006482 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0007010 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0007018 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0008499 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0010529 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0010535 ORPHA:1713 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0010807 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0011098 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1713 17p11.2 microduplication syndrome HP:0200136 ORPHA:1713 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0000364 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0000457 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0000518 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0000656 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0000962 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0001019 ORPHA:457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0001161 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0001376 ORPHA:457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0001645 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0001829 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0001944 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0002047 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0002093 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0002205 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0007431 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0008064 ORPHA:457 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0012472 ORPHA:457 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457 Harlequin ichthyosis HP:0100716 ORPHA:457 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001873 ORPHA:54057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001923 ORPHA:54057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001937 ORPHA:54057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0002094 ORPHA:54057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0003324 ORPHA:54057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001250 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001259 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001289 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001297 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0002014 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0002027 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0002315 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0045040 ORPHA:54057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0000083 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0000093 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0000707 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0000790 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001658 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001945 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0011675 ORPHA:54057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0001919 ORPHA:54057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:54057 Thrombotic thrombocytopenic purpura HP:0012101 ORPHA:54057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001252 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001508 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001954 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0002719 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0002910 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0008897 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0011968 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0012301 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0012444 ORPHA:79333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0000077 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0000253 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0000952 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001167 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001250 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001265 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001284 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001518 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001627 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001999 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0002014 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0002240 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0003236 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0007392 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0011451 ORPHA:79333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0000160 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0000278 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0000347 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0000470 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001181 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001272 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0001433 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0012157 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79333 COG7-CDG HP:0100807 ORPHA:79333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0000218 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0000347 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0000470 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0004322 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0001513 ORPHA:314795 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0001773 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0002650 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0002857 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0002967 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0002982 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0009821 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0003067 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0009816 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0003712 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0005856 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:314795 SHOX-related short stature HP:0005974 ORPHA:314795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:499 Kerion celsi HP:0001581 ORPHA:499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:499 Kerion celsi HP:0001596 ORPHA:499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:499 Kerion celsi HP:0001945 ORPHA:499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:499 Kerion celsi HP:0002076 ORPHA:499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:499 Kerion celsi HP:0002716 ORPHA:499 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:499 Kerion celsi HP:0003326 ORPHA:499 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:499 Kerion celsi HP:0011123 ORPHA:499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:499 Kerion celsi HP:0100838 ORPHA:499 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000218 ORPHA:79318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000486 ORPHA:79318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000582 ORPHA:79318 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000154 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000219 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000276 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000278 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000286 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000303 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000316 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000343 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000448 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000463 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000565 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000750 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000938 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000939 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001250 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001263 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001265 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001321 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001388 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001763 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001999 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0002013 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0002751 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0003186 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0007552 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0008936 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0009125 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0011220 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0011968 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0012448 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0100807 ORPHA:79318 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000044 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000091 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000093 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000100 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000377 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000400 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000426 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000510 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000518 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000545 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000842 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000845 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000855 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000870 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001249 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001251 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001320 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001395 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001508 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001698 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001929 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001945 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001976 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0002098 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0002280 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0002828 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0002910 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0002925 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0003073 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0005562 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0008734 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0009830 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0010463 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0011443 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0011842 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0011858 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0011951 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0012509 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0012882 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0030146 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0030609 ORPHA:79318 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0000926 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001004 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001305 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001639 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001681 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0001701 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0002170 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0002625 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0012050 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0031404 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79318 PMM2-CDG HP:0040238 ORPHA:79318 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:493 Familial keratoacanthoma HP:0000962 ORPHA:493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:493 Familial keratoacanthoma HP:0001482 ORPHA:493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:493 Familial keratoacanthoma HP:0002664 ORPHA:493 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:493 Familial keratoacanthoma HP:0009720 ORPHA:493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:493 Familial keratoacanthoma HP:0012740 ORPHA:493 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:493 Familial keratoacanthoma HP:0200034 ORPHA:493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:493 Familial keratoacanthoma HP:0200042 ORPHA:493 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0012379 ORPHA:79319 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0001395 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0002014 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0002240 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0003073 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0003256 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0040246 ORPHA:79319 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0000825 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0000969 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0001409 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0001410 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0001508 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0001929 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0001977 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0002013 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0002239 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0002243 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0004855 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0005543 ORPHA:79319 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0000821 ORPHA:79319 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0000707 ORPHA:79319 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79319 MPI-CDG HP:0001249 ORPHA:79319 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:492 Proliferating trichilemmal cyst HP:0002209 ORPHA:492 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:492 Proliferating trichilemmal cyst HP:0200040 ORPHA:492 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:492 Proliferating trichilemmal cyst HP:0200042 ORPHA:492 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0007447 ORPHA:495 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0000218 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0001041 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0001072 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0001795 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0001810 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0005406 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0007404 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0007556 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0008391 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0010765 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0011370 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0012785 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0030318 ORPHA:495 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0001805 ORPHA:495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0009775 ORPHA:495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0025474 ORPHA:495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma HP:0031452 ORPHA:495 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0000044 ORPHA:494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0000175 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0000365 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0000407 ORPHA:494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0000962 ORPHA:494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0001596 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0001597 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0002143 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0002797 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0007460 ORPHA:494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0007465 ORPHA:494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0008064 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0008388 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0009775 ORPHA:494 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0100543 ORPHA:494 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0100716 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:494 Keratoderma hereditarium mutilans HP:0200034 ORPHA:494 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001249 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001257 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001258 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001263 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001310 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0002495 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0003487 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0007256 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0008944 ORPHA:459056 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0000483 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0000540 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0000639 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001265 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0001290 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0012511 ORPHA:459056 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459056 Autosomal recessive spastic paraplegia type 75 HP:0030187 ORPHA:459056 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1706 Mosaic trisomy 15 HP:0000707 ORPHA:1706 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1706 Mosaic trisomy 15 HP:0001155 ORPHA:1706 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1706 Mosaic trisomy 15 HP:0001252 ORPHA:1706 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1706 Mosaic trisomy 15 HP:0002916 ORPHA:1706 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1706 Mosaic trisomy 15 HP:0004097 ORPHA:1706 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1706 Mosaic trisomy 15 HP:0100490 ORPHA:1706 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1705 Distal trisomy 14q HP:0000365 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1705 Distal trisomy 14q HP:0000501 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1705 Distal trisomy 14q HP:0001643 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1705 Distal trisomy 14q HP:0001679 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1705 Distal trisomy 14q HP:0002101 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1705 Distal trisomy 14q HP:0002916 ORPHA:1705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1705 Distal trisomy 14q HP:0004322 ORPHA:1705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1705 Distal trisomy 14q HP:0007370 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1705 Distal trisomy 14q HP:0010935 ORPHA:1705 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1705 Distal trisomy 14q HP:0100543 ORPHA:1705 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0012379 ORPHA:79320 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0000707 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0001250 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0001251 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0001252 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0001508 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0011968 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0012758 ORPHA:79320 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0000158 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0000316 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0000369 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0000486 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0000924 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0000952 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0001392 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0001929 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0001999 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0002243 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0002650 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0002652 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0003073 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0003256 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0003642 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0004855 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0005543 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0006118 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0040246 ORPHA:79320 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0000510 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0000546 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0001156 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0001321 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0002625 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0003563 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0008373 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79320 ALG6-CDG HP:0030348 ORPHA:79320 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000028 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000047 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000154 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000175 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000218 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000316 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000347 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000368 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000426 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000431 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000463 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000470 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000508 ORPHA:1703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000581 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000772 ORPHA:1703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0000774 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0001249 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0001250 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0001263 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0001508 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0002007 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0030680 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0002916 ORPHA:1703 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0004397 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0007598 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0008056 ORPHA:1703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0008551 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0008736 ORPHA:1703 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0100490 ORPHA:1703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1703 Mosaic trisomy 14 HP:0100559 ORPHA:1703 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0012379 ORPHA:79321 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001252 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001263 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0002060 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0002719 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0011024 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0011968 ORPHA:79321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000119 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000252 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000365 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000366 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000377 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000478 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000818 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000938 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001250 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001410 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0002086 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0002813 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0030680 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0040064 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001276 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001285 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001332 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001871 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0003186 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0012444 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0045005 ORPHA:79321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000158 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000172 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000218 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000518 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0000639 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001010 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001305 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0001638 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0002079 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0002089 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0002804 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0005871 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0009125 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0012110 ORPHA:79321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79321 ALG3-CDG HP:0012157 ORPHA:79321 TAS HP:0040284 P 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ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0001762 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0001903 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0001929 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0001976 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0002013 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0002014 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0002079 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0002119 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0002120 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0002352 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0002415 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0003186 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0005543 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0011968 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0012385 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79325 ALG8-CDG HP:0100678 ORPHA:79325 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0001891 ORPHA:54028 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0002015 ORPHA:54028 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0004840 ORPHA:54028 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0012343 ORPHA:54028 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0100594 ORPHA:54028 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0000206 ORPHA:54028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0000980 ORPHA:54028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0003388 ORPHA:54028 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0000160 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0001598 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0002027 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0004396 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0010284 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0012473 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0025062 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:54028 Plummer-Vinson syndrome HP:0100825 ORPHA:54028 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001875 ORPHA:486 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0002718 ORPHA:486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0004429 ORPHA:486 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0000155 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0000230 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0000704 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001581 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001888 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001945 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0002014 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0002027 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0002090 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0004798 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0005425 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0011107 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0012311 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0012384 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0025439 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0410018 ORPHA:486 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0000938 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001028 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001880 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001909 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0001915 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0002863 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0003453 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0004808 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0006480 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0006721 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0025452 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:486 Autosomal dominant severe congenital neutropenia HP:0100658 ORPHA:486 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0008271 ORPHA:485 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000311 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000520 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0001367 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0001387 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0001591 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0002663 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0003037 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0003330 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0003498 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0005280 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0007773 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0007964 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0011003 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0012069 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0012785 ORPHA:485 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000175 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000365 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000541 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000926 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000947 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0003016 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0003026 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0003040 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0003051 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0003311 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0003521 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0007992 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0008063 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0009815 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0010306 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0010574 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0010580 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0010646 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0012230 ORPHA:485 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000201 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000470 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000518 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0001488 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0002949 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0003417 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0004557 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0006375 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0006454 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0008422 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0012019 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0025474 ORPHA:485 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0000256 ORPHA:485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0002086 ORPHA:485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0002176 ORPHA:485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:485 Kniest dysplasia HP:0008755 ORPHA:485 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0000790 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0001945 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0001974 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0002027 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0011227 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0012085 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0025143 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0025615 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0032169 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0100518 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0100525 ORPHA:488 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0002586 ORPHA:488 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0002664 ORPHA:488 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0010766 ORPHA:488 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0010783 ORPHA:488 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:488 Urachal cyst HP:0031500 ORPHA:488 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:482 Kimura disease HP:0001880 ORPHA:482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:482 Kimura disease HP:0002729 ORPHA:482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:482 Kimura disease HP:0003212 ORPHA:482 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:482 Kimura disease HP:0002716 ORPHA:482 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:482 Kimura disease HP:0010286 ORPHA:482 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0000029 ORPHA:481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0000144 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0000771 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0001252 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0001260 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0001265 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0001288 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0001618 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0003119 ORPHA:481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0003202 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0005978 ORPHA:481 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0100022 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:481 Kennedy disease HP:0100639 ORPHA:481 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0000365 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0000590 ORPHA:480 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0000830 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0001251 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0001252 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0001315 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0001709 ORPHA:480 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0002750 ORPHA:480 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0003200 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0003202 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0003457 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0004374 ORPHA:480 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0004622 ORPHA:480 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:480 Kearns-Sayre syndrome HP:0007703 ORPHA:480 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0000217 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0001315 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0012332 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0003403 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0009073 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0030000 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0030209 ORPHA:43393 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0000315 ORPHA:43393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0000802 ORPHA:43393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0002019 ORPHA:43393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0002483 ORPHA:43393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0030357 ORPHA:43393 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0000966 ORPHA:43393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0001097 ORPHA:43393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:43393 Lambert-Eaton myasthenic syndrome HP:0004926 ORPHA:43393 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:42062 Iminoglycinuria HP:0003080 ORPHA:42062 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:42062 Iminoglycinuria HP:0003108 ORPHA:42062 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:42062 Iminoglycinuria HP:0003137 ORPHA:42062 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:42062 Iminoglycinuria HP:0002154 ORPHA:42062 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:42062 Iminoglycinuria HP:0003260 ORPHA:42062 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:42062 Iminoglycinuria HP:0008358 ORPHA:42062 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000365 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000613 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000992 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0001263 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0002066 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0002180 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0100585 ORPHA:438134 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0001256 ORPHA:438134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0004322 ORPHA:438134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0007763 ORPHA:438134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0031087 ORPHA:438134 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000252 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000776 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0001272 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0002664 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0010864 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33111 Granulomatous slack skin HP:0000973 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33111 Granulomatous slack skin HP:0001582 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33111 Granulomatous slack skin HP:0002665 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33111 Granulomatous slack skin HP:0010783 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33111 Granulomatous slack skin HP:0012189 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33111 Granulomatous slack skin HP:0030053 ORPHA:33111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33111 Granulomatous slack skin HP:0000121 ORPHA:33111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33111 Granulomatous slack skin HP:0001919 ORPHA:33111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33111 Granulomatous slack skin HP:0002733 ORPHA:33111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33111 Granulomatous slack skin HP:0003072 ORPHA:33111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0000718 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001252 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001298 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001324 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001508 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001533 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002059 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002133 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002151 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002167 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002169 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002194 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002353 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0003535 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0007204 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0010864 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0011925 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0031936 ORPHA:505216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0000020 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0000648 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001250 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001257 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001344 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0001347 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:505216 3-methylglutaconic aciduria type 9 HP:0002521 ORPHA:505216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001263 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001999 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0002209 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0004322 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0011220 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0045075 ORPHA:459061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000077 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000238 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000243 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001305 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001320 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001763 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001800 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0005280 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0007291 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0012385 ORPHA:459061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000023 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000175 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000248 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000286 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000316 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000347 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000369 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000494 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000687 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000739 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0000805 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001250 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001274 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001631 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001650 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001970 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0004442 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0004482 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0007018 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0007598 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0010535 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0012712 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0030799 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0200055 ORPHA:459061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000008 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000028 ORPHA:478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000044 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000054 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000104 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000144 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000175 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000407 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000458 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000505 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000508 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000551 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000639 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000771 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000786 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000823 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0000830 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001250 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001251 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001252 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001260 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001288 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001324 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001335 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001337 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001513 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001608 ORPHA:478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001761 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0001763 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0030680 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0002652 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0002750 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0002757 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0003164 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0003187 ORPHA:478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0004349 ORPHA:478 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0004409 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0008064 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0008734 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0008736 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0009804 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0010550 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0030016 ORPHA:478 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:478 Kallmann syndrome HP:0100639 ORPHA:478 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0000083 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0000648 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001249 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001250 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001252 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001254 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001259 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001260 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001263 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001266 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001297 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001332 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001508 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001638 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001733 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001744 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001873 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001875 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001903 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001944 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0001987 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002017 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002027 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002039 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002098 ORPHA:79312 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002240 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0002721 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0011968 ORPHA:79312 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0100022 ORPHA:79312 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93600 Primary hyperoxaluria type 3 HP:0000121 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93600 Primary hyperoxaluria type 3 HP:0000790 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93600 Primary hyperoxaluria type 3 HP:0003110 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93600 Primary hyperoxaluria type 3 HP:0003159 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93600 Primary hyperoxaluria type 3 HP:0008672 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93600 Primary hyperoxaluria type 3 HP:0012211 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93600 Primary hyperoxaluria type 3 HP:0012531 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93600 Primary hyperoxaluria type 3 HP:0100515 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93600 Primary hyperoxaluria type 3 HP:0100518 ORPHA:93600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0000218 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0000246 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0000286 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0000316 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0000389 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0000509 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0000988 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0001287 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0001369 ORPHA:33110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0001508 ORPHA:33110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0001581 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0001875 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0001944 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0001945 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0002014 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0002024 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0002110 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0002205 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0002719 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0002721 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0002754 ORPHA:33110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0004432 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0008572 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0012115 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0012378 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0012735 ORPHA:33110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0100658 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0100806 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33110 Autosomal agammaglobulinemia HP:0200043 ORPHA:33110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0000256 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0000708 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0001250 ORPHA:79314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0001252 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0001285 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0002071 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0002381 ORPHA:79314 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0002383 ORPHA:79314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0004375 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0006887 ORPHA:79314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0007360 ORPHA:79314 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0010864 ORPHA:79314 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0000975 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001945 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002300 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0004372 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0007076 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0012332 ORPHA:94093 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0000822 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001337 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001649 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001942 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001974 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002015 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002307 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0003236 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0003394 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0003781 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0012378 ORPHA:94093 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0000020 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0000093 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0000713 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0000739 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001259 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001298 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001894 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001919 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001944 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002013 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002018 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002072 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002149 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002153 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002204 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002615 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002901 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002902 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002905 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002910 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002913 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002917 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0003155 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0003201 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0003228 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0010553 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0011675 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0011951 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0025145 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0025435 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0031258 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0040288 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0100735 ORPHA:94093 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001662 ORPHA:94093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0001873 ORPHA:94093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0002045 ORPHA:94093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94093 Neuroleptic malignant syndrome HP:0100806 ORPHA:94093 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000002 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000013 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000026 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000027 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000028 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000054 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000118 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000134 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000164 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000175 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000316 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000716 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000739 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000771 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0006610 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000786 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000802 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000823 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000869 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0002750 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000938 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000939 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0001608 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0002231 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0002761 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0003187 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0000044 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0003782 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0005280 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0008187 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0008197 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0040171 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0008527 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0008724 ORPHA:432 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0008734 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0011961 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0012385 ORPHA:432 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0030019 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism HP:0040171 ORPHA:432 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0100267 ORPHA:141291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0000271 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0001611 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0002793 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0005105 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0005216 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0005324 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0009088 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0410011 ORPHA:141291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0000419 ORPHA:141291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0000668 ORPHA:141291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:141291 Cleft lip and alveolus HP:0002015 ORPHA:141291 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0000729 ORPHA:369873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0001263 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0000842 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0001252 ORPHA:369873 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0004322 ORPHA:369873 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0001513 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0001952 ORPHA:369873 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0002354 ORPHA:369873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0012332 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0002591 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0002615 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0005307 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0100503 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0007018 ORPHA:369873 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0100543 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0011968 ORPHA:369873 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0012332 ORPHA:369873 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369873 Obesity due to SIM1 deficiency HP:0012339 ORPHA:369873 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0008207 ORPHA:85138 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0008163 ORPHA:85138 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0000953 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0001324 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0001508 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0001824 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002014 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002017 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002019 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002027 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002039 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002615 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002960 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0003154 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0012378 ORPHA:85138 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0000127 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0000848 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0001897 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002149 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002153 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002902 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0004319 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0005976 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0008226 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0012364 ORPHA:85138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0000823 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0000829 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0000835 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0000872 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0000958 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0001045 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0001250 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0001278 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0008209 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0001943 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002215 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002321 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002608 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0002829 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0003072 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0006462 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0008209 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0010512 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0030018 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0030083 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0100651 ORPHA:85138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0004860 ORPHA:85138 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0008720 ORPHA:85138 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85138 Addison disease HP:0100522 ORPHA:85138 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0000852 ORPHA:94090 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0002901 ORPHA:94090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0002905 ORPHA:94090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003165 ORPHA:94090 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0002199 ORPHA:94090 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0001657 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003394 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003401 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003472 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003739 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0011458 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0012049 ORPHA:94090 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003456 ORPHA:94090 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0003761 ORPHA:94090 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0010766 ORPHA:94090 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:94090 Pseudohypoparathyroidism type 2 HP:0030057 ORPHA:94090 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0000944 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0000969 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0000988 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0000989 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0001061 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0001369 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0001824 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0001903 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0001945 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002037 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002633 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002650 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002653 ORPHA:324964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002754 ORPHA:324964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0002797 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0003468 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0003565 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0003765 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0004396 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0005464 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0005930 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0006824 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0011227 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0012378 ORPHA:324964 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0100774 ORPHA:324964 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0100781 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0100847 ORPHA:324964 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0000121 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0000648 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0000708 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0000712 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0000716 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0000739 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0000958 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0000964 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0001231 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0001596 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0001597 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0001635 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0002027 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0002150 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0002356 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0002516 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0002615 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0002793 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0002901 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0002905 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0002917 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0003401 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0003457 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0003473 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0004349 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0004372 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0007400 ORPHA:428 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0011675 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0012608 ORPHA:428 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:428 Autosomal dominant hypocalcemia HP:0040148 ORPHA:428 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0000127 ORPHA:427 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0000848 ORPHA:427 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0000846 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0001508 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0002153 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0002615 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0002902 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0004319 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0011106 ORPHA:427 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0001254 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0001278 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0001510 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0001942 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0001954 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0002014 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0002017 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0002049 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0011968 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:427 Familial hypoaldosteronism HP:0012364 ORPHA:427 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0000508 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0000737 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0000750 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001251 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001254 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001270 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001300 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001336 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001348 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001761 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001762 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002019 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002063 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002066 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002067 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002071 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002174 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002375 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002395 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002451 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0003487 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0003781 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0003785 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0004373 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0010553 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001252 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0011968 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0030166 ORPHA:101150 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001256 ORPHA:101150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001945 ORPHA:101150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0007325 ORPHA:101150 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0001290 ORPHA:101150 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101150 Autosomal recessive dopa-responsive dystonia HP:0002448 ORPHA:101150 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0003149 ORPHA:94088 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0003537 ORPHA:94088 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0030973 ORPHA:94088 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0000091 ORPHA:94088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0001919 ORPHA:94088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0008651 ORPHA:94088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0012211 ORPHA:94088 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0000790 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0002013 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0002018 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0002150 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0003138 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0003418 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0012213 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0012595 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94088 Hereditary renal hypouricemia HP:0012622 ORPHA:94088 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0000256 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0000944 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0001156 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0001249 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0001831 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0002644 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0002650 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0002652 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0002758 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0002823 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0002970 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0002983 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0003307 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0003312 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0003416 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0005692 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0006487 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0009811 ORPHA:429 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0010535 ORPHA:429 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:429 Hypochondroplasia HP:0011405 ORPHA:429 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000852 ORPHA:94089 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0002901 ORPHA:94089 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0002905 ORPHA:94089 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003165 ORPHA:94089 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003456 ORPHA:94089 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000293 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000311 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000470 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000518 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000639 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000684 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0004322 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0005280 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0006297 ORPHA:94089 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000509 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000716 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000737 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000739 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0001265 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0001657 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0002094 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003034 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003394 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003401 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003472 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003739 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003909 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0005700 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0011001 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0011458 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0012049 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0100660 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0100749 ORPHA:94089 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0000824 ORPHA:94089 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0002199 ORPHA:94089 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0008227 ORPHA:94089 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0003761 ORPHA:94089 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0010766 ORPHA:94089 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:94089 Pseudohypoparathyroidism type 1B HP:0030057 ORPHA:94089 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0000836 ORPHA:424 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0011790 ORPHA:424 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0000853 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0001518 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0001824 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0002014 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0002378 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0008249 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0011784 ORPHA:424 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0000713 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0000752 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0001263 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0001270 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0002360 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0005616 ORPHA:424 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0000520 ORPHA:424 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0012372 ORPHA:424 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor HP:0030057 ORPHA:424 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000028 ORPHA:99776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000085 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000110 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000126 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000130 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000175 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000218 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000239 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000252 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000269 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000316 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000347 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000369 ORPHA:99776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000414 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000465 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000470 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000476 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000568 ORPHA:99776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000582 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0000601 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001195 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001249 ORPHA:99776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001263 ORPHA:99776 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001305 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001376 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001511 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001561 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001562 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001629 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001631 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001643 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001651 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001654 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001706 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001746 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001762 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001789 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001792 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001838 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0001869 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0002006 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0002101 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0002119 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0002414 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0002566 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0002650 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0002652 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0002827 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0002937 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0002983 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0003042 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0004422 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0005562 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0005815 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0006191 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0007957 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0008736 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0011027 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0012815 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0040019 ORPHA:99776 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0100490 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99776 Mosaic trisomy 9 HP:0100752 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0001942 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0001945 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0002047 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0002789 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0002905 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0003552 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0004755 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0004756 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0011964 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0012416 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0031320 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0003011 ORPHA:423 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0001722 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0001919 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0002153 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0002913 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0003256 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0006554 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0006682 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0008331 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0008942 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0008978 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:0009045 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:423 Malignant hyperthermia of anesthesia HP:3000005 ORPHA:423 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:425 Apolipoprotein A-I deficiency HP:0002621 ORPHA:425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:425 Apolipoprotein A-I deficiency HP:0003119 ORPHA:425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:425 Apolipoprotein A-I deficiency HP:0003233 ORPHA:425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:425 Apolipoprotein A-I deficiency HP:0007759 ORPHA:425 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:425 Apolipoprotein A-I deficiency HP:0000622 ORPHA:425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:425 Apolipoprotein A-I deficiency HP:0000991 ORPHA:425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:425 Apolipoprotein A-I deficiency HP:0001114 ORPHA:425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:425 Apolipoprotein A-I deficiency HP:0001681 ORPHA:425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:425 Apolipoprotein A-I deficiency HP:0005181 ORPHA:425 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99771 Bifid uvula HP:0000193 ORPHA:99771 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99771 Bifid uvula HP:0008376 ORPHA:99771 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99771 Bifid uvula HP:0011819 ORPHA:99771 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99771 Bifid uvula HP:0410030 ORPHA:99771 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0000325 ORPHA:94083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0001249 ORPHA:94083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0002451 ORPHA:94083 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0000053 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0001256 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0001260 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0001288 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0002061 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0002342 ORPHA:94083 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0000750 ORPHA:94083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0001250 ORPHA:94083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0002353 ORPHA:94083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94083 Partington syndrome HP:0007380 ORPHA:94083 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0000185 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0000220 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0002033 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0010863 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0011469 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0200136 ORPHA:99772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0000327 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0000403 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0000405 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0001611 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0009088 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0011219 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99772 Cleft velum HP:0011951 ORPHA:99772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0002092 ORPHA:422 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0002094 ORPHA:422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0011025 ORPHA:422 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0001279 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0001962 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0002240 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0005133 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0005180 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0012378 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0030148 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0030848 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0100749 ORPHA:422 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension HP:0010741 ORPHA:422 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0002668 ORPHA:94080 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0001069 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0001095 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0001342 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0001618 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0001824 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0001962 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0002018 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0002331 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0002574 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0002640 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0002864 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0003072 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0003345 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0003574 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0003639 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0008629 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0010532 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0011703 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0011979 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0012378 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0031284 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0100749 ORPHA:94080 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0000405 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0000790 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0000980 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0001293 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0001337 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0001605 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0001635 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94080 Non-functioning paraganglioma HP:0025269 ORPHA:94080 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0040317 ORPHA:94086 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0000121 ORPHA:94086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0002014 ORPHA:94086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0003072 ORPHA:94086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0004324 ORPHA:94086 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0001942 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0001988 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0002905 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0002910 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0002925 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0031507 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94086 Blue diaper syndrome HP:0031883 ORPHA:94086 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000529 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000551 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0001123 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0030469 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0030474 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0030618 ORPHA:85128 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000493 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000539 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000546 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000580 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000608 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0007814 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0032118 ORPHA:85128 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000510 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000603 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000610 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0000662 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0001129 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0007722 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0007984 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0030528 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0030529 ORPHA:85128 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85128 Bothnia retinal dystrophy HP:0007737 ORPHA:85128 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001249 ORPHA:457260 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000252 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000504 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000718 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000729 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000752 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001257 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001290 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0002136 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0100660 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000202 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000365 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000505 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000826 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001000 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001250 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001263 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001388 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001999 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0002079 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0002119 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0002539 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0002650 ORPHA:457260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0000774 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0000944 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0002240 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0002757 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0100530 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0000820 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0001252 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0001744 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0003355 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:417 Neonatal severe primary hyperparathyroidism HP:0004322 ORPHA:417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0003159 ORPHA:416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0008672 ORPHA:416 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0000121 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0000164 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0000488 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0000543 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0000648 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0000790 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0001508 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0001942 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0002653 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0002757 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0002910 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0004417 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0005789 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0006479 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0007663 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0009830 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0011072 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0011506 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0012072 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0012622 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0012722 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0025324 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0030880 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0031981 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0100758 ORPHA:416 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0001063 ORPHA:416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0002150 ORPHA:416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0003774 ORPHA:416 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0000965 ORPHA:416 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0001638 ORPHA:416 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:416 Primary hyperoxaluria HP:0025520 ORPHA:416 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:419 Hyperprolinemia type 1 HP:0000093 ORPHA:419 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:419 Hyperprolinemia type 1 HP:0000112 ORPHA:419 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:419 Hyperprolinemia type 1 HP:0001250 ORPHA:419 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:419 Hyperprolinemia type 1 HP:0003137 ORPHA:419 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:419 Hyperprolinemia type 1 HP:0008358 ORPHA:419 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:419 Hyperprolinemia type 1 HP:0100753 ORPHA:419 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0000799 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0000819 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0000821 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0000951 ORPHA:412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0001084 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0001114 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0002240 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0001397 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0001513 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0001681 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0001735 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0001997 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0002155 ORPHA:412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0002635 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0003124 ORPHA:412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0003141 ORPHA:412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0003233 ORPHA:412 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0004943 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0004950 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0005181 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0004950 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0010874 ORPHA:412 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:412 Dysbetalipoproteinemia HP:0012397 ORPHA:412 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001347 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001987 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0011965 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0012026 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0012758 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0100543 ORPHA:415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001249 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001254 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001258 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001289 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001290 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001328 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001410 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001508 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002038 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002073 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002120 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002169 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002240 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002370 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002495 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002572 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002789 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002910 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0003218 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0006846 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0007256 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0011098 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0011968 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0012115 ORPHA:415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001250 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001259 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001950 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002064 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0002123 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0003256 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0007052 ORPHA:415 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0000533 ORPHA:415 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001399 ORPHA:415 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0040030 ORPHA:415 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0001302 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0007360 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0008936 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0010864 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0012758 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0025100 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0030301 ORPHA:572013 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0000486 ORPHA:572013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0002015 ORPHA:572013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0004305 ORPHA:572013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0033725 ORPHA:572013 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0000011 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0000324 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0000609 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0000733 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0001257 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0002827 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0012469 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0032794 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0100704 ORPHA:572013 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0000529 ORPHA:414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0000533 ORPHA:414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0000545 ORPHA:414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0012026 ORPHA:414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0200065 ORPHA:414 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0000518 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0000523 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0000618 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0001103 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0001133 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0003355 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0007675 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0040031 ORPHA:414 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0000365 ORPHA:414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0001250 ORPHA:414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:414 Gyrate atrophy of choroid and retina HP:0001595 ORPHA:414 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000028 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000062 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000252 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000347 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000966 ORPHA:452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001249 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001250 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001252 ORPHA:452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001257 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001263 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001274 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001302 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001522 ORPHA:452 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001629 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001643 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0001738 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0002024 ORPHA:452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0002119 ORPHA:452 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0002251 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0008736 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0011220 ORPHA:452 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284400 Small cell carcinoma of the bladder HP:0000790 ORPHA:284400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284400 Small cell carcinoma of the bladder HP:0002027 ORPHA:284400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284400 Small cell carcinoma of the bladder HP:0003072 ORPHA:284400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284400 Small cell carcinoma of the bladder HP:0009725 ORPHA:284400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284400 Small cell carcinoma of the bladder HP:0100518 ORPHA:284400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284400 Small cell carcinoma of the bladder HP:0000010 ORPHA:284400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:455 Superficial epidermolytic ichthyosis HP:0000963 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:455 Superficial epidermolytic ichthyosis HP:0000969 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:455 Superficial epidermolytic ichthyosis HP:0000982 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:455 Superficial epidermolytic ichthyosis HP:0008064 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:455 Superficial epidermolytic ichthyosis HP:0008066 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:455 Superficial epidermolytic ichthyosis HP:0100792 ORPHA:455 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:455 Superficial epidermolytic ichthyosis HP:0010783 ORPHA:455 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0000083 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0000958 ORPHA:454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0000962 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0000982 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0000989 ORPHA:454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0001581 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0002664 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0002665 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0002960 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0006775 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0008064 ORPHA:454 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0010783 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0100242 ORPHA:454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0100326 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:454 Acquired ichthyosis HP:0200034 ORPHA:454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome HP:0000982 ORPHA:85112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome HP:0006739 ORPHA:85112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome HP:0012245 ORPHA:85112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0011098 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0006977 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0030391 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0001268 ORPHA:240112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002465 ORPHA:240112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002549 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0009088 ORPHA:240112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0031434 ORPHA:240112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0007158 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0000511 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002527 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0000741 ORPHA:240112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0030784 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0025268 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0001300 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002312 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002015 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002172 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002381 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0030217 ORPHA:240112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0002167 ORPHA:240112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0001510 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002650 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002938 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003521 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0010575 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0045060 ORPHA:94068 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000280 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000470 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000926 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000939 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002808 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002857 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003180 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0009824 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0012368 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0030838 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0040194 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0100569 ORPHA:94068 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000162 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000175 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000316 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000347 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000365 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000541 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0000545 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0001270 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0001552 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0001760 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002176 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002515 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002795 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0002996 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003026 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003097 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003306 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0003418 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0004349 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0008462 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0008755 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0010585 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0030839 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0100864 ORPHA:94068 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000175 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000272 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000303 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000322 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0001250 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0001252 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0001357 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0001629 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0001800 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0002714 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0009835 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000316 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0002553 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0004397 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0010185 ORPHA:94066 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0010864 ORPHA:94066 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000750 ORPHA:369891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001263 ORPHA:369891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001270 ORPHA:369891 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000154 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000158 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000194 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000369 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000414 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000431 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000582 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000708 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000729 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001252 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001328 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002342 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002465 ORPHA:369891 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000028 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000218 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000248 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000286 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000294 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000303 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000311 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000316 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000325 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000337 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000341 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000365 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000384 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000400 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000470 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000508 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000540 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000545 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000687 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000711 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000713 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000717 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000718 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000752 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001155 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001159 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001251 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001357 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001537 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001627 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001629 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001655 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0001760 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002236 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002311 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002313 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002353 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0002714 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0003196 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0004322 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0005280 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0005612 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0007633 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0007700 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0010841 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0011228 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0011800 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0012385 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0030084 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0100025 ORPHA:369891 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0000347 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0000448 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0000463 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0000581 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0001943 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0002612 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0003281 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0003452 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0006579 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0006709 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:446 Neonatal hemochromatosis HP:0100542 ORPHA:446 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0030272 ORPHA:447 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001878 ORPHA:447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001903 ORPHA:447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0003641 ORPHA:447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0025406 ORPHA:447 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001907 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001923 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002094 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002315 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002574 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002625 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0003138 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0004936 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0008282 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0012543 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0012622 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0020181 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0025435 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0032106 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0040303 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0100749 ORPHA:447 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0000083 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0000093 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0000802 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0000822 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0000952 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001254 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001297 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001658 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001873 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001876 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001882 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001919 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002204 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002639 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0004420 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0012132 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0030248 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0032043 ORPHA:447 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0001994 ORPHA:447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0002015 ORPHA:447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0003076 ORPHA:447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:447 Paroxysmal nocturnal hemoglobinuria HP:0025271 ORPHA:447 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000080 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000135 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000158 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000202 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000239 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000246 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000271 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000280 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000365 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000457 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000458 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000478 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000492 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000504 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000518 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000648 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000716 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000739 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000787 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000820 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000821 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000822 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000830 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0000853 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0001071 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0001249 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0001252 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0001263 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0001315 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0001537 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0001595 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0001615 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0001697 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0002019 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0002045 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0002360 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0002575 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0002615 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0003270 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0003401 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0004322 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0004491 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0005214 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0005930 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0006579 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0008188 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0008872 ORPHA:442 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0010864 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0011675 ORPHA:442 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:442 Congenital hypothyroidism HP:0100540 ORPHA:442 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:441 Pure autonomic failure HP:0000970 ORPHA:441 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:441 Pure autonomic failure HP:0001278 ORPHA:441 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:441 Pure autonomic failure HP:0012332 ORPHA:441 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:441 Pure autonomic failure HP:0012099 ORPHA:441 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:441 Pure autonomic failure HP:0025142 ORPHA:441 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:441 Pure autonomic failure HP:0000020 ORPHA:441 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:441 Pure autonomic failure HP:0001279 ORPHA:441 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:441 Pure autonomic failure HP:0002019 ORPHA:441 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:441 Pure autonomic failure HP:0100518 ORPHA:441 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:441 Pure autonomic failure HP:0000802 ORPHA:441 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000597 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0007256 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0002751 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000726 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0001300 ORPHA:99750 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0030188 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0002067 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0001268 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000719 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000496 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0004373 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0001260 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0002317 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0002527 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000657 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0006801 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0007076 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0002063 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0001337 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0031825 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0009088 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0010526 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0005329 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0000643 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0025330 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0011098 ORPHA:99750 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0006977 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0010522 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99750 Atypical progressive supranuclear palsy syndrome HP:0004302 ORPHA:99750 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:444 Marie Unna hereditary hypotrichosis HP:0001596 ORPHA:444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444 Marie Unna hereditary hypotrichosis HP:0002208 ORPHA:444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444 Marie Unna hereditary hypotrichosis HP:0002209 ORPHA:444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444 Marie Unna hereditary hypotrichosis HP:0100840 ORPHA:444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:444 Marie Unna hereditary hypotrichosis HP:0200102 ORPHA:444 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94064 Deafness-infertility syndrome HP:0000027 ORPHA:94064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94064 Deafness-infertility syndrome HP:0000407 ORPHA:94064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94064 Deafness-infertility syndrome HP:0003251 ORPHA:94064 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001531 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0002154 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0008872 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0011451 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0012279 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0012736 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0030215 ORPHA:284417 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0000474 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001250 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001276 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001347 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001511 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0002079 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0009062 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0012430 ORPHA:284417 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0000316 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0000340 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0000347 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0000470 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001285 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001320 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001336 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001339 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001363 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001776 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0002392 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0003121 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0005280 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0006380 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0006466 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0006956 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0007704 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0008064 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0009879 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0011097 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0011196 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0011471 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0012448 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0040288 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0200048 ORPHA:284417 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001263 ORPHA:94065 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000286 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000319 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000343 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000356 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000494 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000708 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001156 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001249 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001252 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001388 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001518 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0002719 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0004322 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0008897 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0009890 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0011229 ORPHA:94065 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000028 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000047 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000160 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000164 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000174 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000179 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000252 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000276 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000316 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000324 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000365 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000426 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000486 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000589 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000639 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000776 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0000824 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001172 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001508 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001513 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001627 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0001780 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0002023 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0002650 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0002808 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0005280 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0009623 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0011100 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0011968 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0012810 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0030084 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0030260 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0100790 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0200055 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94065 15q24 microdeletion syndrome HP:0002475 ORPHA:94065 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000085 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000086 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000089 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000233 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000252 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000316 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000325 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000347 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000426 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000445 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000490 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000574 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000664 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000668 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000750 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000819 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0000953 ORPHA:94063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0001252 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0001256 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0001263 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0001328 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0001337 ORPHA:94063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0001482 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0001508 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0001511 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0001743 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0002007 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0002308 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0002566 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0002650 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0002714 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0003202 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0003396 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0004209 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0004322 ORPHA:94063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0005288 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94063 12q14 microdeletion syndrome HP:0010739 ORPHA:94063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000218 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000708 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000750 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001252 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001256 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001337 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0002342 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0004322 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0025502 ORPHA:457240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000054 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000252 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000316 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000337 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000348 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000400 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000486 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000639 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000716 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000729 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000733 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000739 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000742 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000824 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000954 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001250 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001288 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001385 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0001658 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0002069 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0002171 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0002206 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0002487 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0004437 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0006986 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0007033 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0008734 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0010864 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002186 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0003474 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0007158 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002067 ORPHA:240103 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0000514 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002172 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002063 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002359 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002098 ORPHA:240103 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002015 ORPHA:240103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002374 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0001260 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002354 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0000511 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002381 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0009088 ORPHA:240103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0004373 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0001337 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0000743 ORPHA:240103 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0007256 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0030217 ORPHA:240103 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0045084 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0004305 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0007885 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0006961 ORPHA:240103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0001188 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0000570 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0001268 ORPHA:240103 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0000751 ORPHA:240103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome HP:0002548 ORPHA:240103 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0005180 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0012378 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0030718 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0031664 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0001635 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0001640 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0005150 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0010741 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0000961 ORPHA:439 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0001694 ORPHA:439 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0002094 ORPHA:439 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0012418 ORPHA:439 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0001217 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0001631 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0001655 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0001708 ORPHA:439 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0011623 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0011712 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:439 Isolated right ventricular hypoplasia HP:0012383 ORPHA:439 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0000501 ORPHA:94058 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0000572 ORPHA:94058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0011497 ORPHA:94058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0012636 ORPHA:94058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0000553 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0000587 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0000613 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0007906 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0030532 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0200026 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:3000032 ORPHA:94058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0000593 ORPHA:94058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0004329 ORPHA:94058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0007850 ORPHA:94058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0012040 ORPHA:94058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94058 Neovascular glaucoma HP:0000541 ORPHA:94058 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99748 Pontiac fever HP:0001945 ORPHA:99748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99748 Pontiac fever HP:0002315 ORPHA:99748 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99748 Pontiac fever HP:0003326 ORPHA:99748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99748 Pontiac fever HP:0012378 ORPHA:99748 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99748 Pontiac fever HP:0012735 ORPHA:99748 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0000185 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0000252 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0000340 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0000347 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0000648 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0000737 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0000939 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0001252 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0001274 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0001320 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0001339 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0001376 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0001522 ORPHA:99742 TAS HP:0040281 C ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0001558 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0001942 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0001992 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0002069 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0002119 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0002240 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0002414 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0002509 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0004331 ORPHA:99742 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0005968 ORPHA:99742 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0011344 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99742 Amish lethal microcephaly HP:0011968 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0002148 ORPHA:437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0002653 ORPHA:437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0002748 ORPHA:437 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0001324 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0001508 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0002749 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0003109 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0003155 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0003498 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0006487 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0040069 ORPHA:437 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0000083 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0000117 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0000164 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0000694 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0001387 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0002150 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0003127 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0004963 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0010766 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0012052 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0020110 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0030757 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0030758 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0100512 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0100686 ORPHA:437 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0000121 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0000826 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0000836 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0000843 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0003072 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0003165 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0004484 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0005464 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0007565 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0008208 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0010659 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0010734 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:437 Hypophosphatemic rickets HP:0100774 ORPHA:437 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0000958 ORPHA:94059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0000989 ORPHA:94059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0003138 ORPHA:94059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0012622 ORPHA:94059 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0002360 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0003774 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0011112 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0011354 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0031355 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0031901 ORPHA:94059 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0000716 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0001581 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0002918 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0003072 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0008732 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0011123 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0100725 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:94059 Uremic pruritus HP:0200034 ORPHA:94059 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0000164 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0000239 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0000737 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0000772 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0000774 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0000944 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0001024 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0001250 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0001252 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0001363 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0001531 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0001903 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0002093 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0002097 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0002757 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0003072 ORPHA:436 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0004322 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0006487 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0008872 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:436 Hypophosphatasia HP:0010781 ORPHA:436 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0000421 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0000988 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0001251 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0001254 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0001259 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0001276 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0001337 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0001347 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0001695 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0001744 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0001945 ORPHA:99745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0002014 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0002019 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0002027 ORPHA:99745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0002239 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0002240 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0002315 ORPHA:99745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0002383 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0002829 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0003326 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0004936 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0006530 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0011675 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0012378 ORPHA:99745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0012733 ORPHA:99745 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0012735 ORPHA:99745 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99745 Typhoid HP:0100785 ORPHA:99745 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001249 ORPHA:171929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001510 ORPHA:171929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001511 ORPHA:171929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001518 ORPHA:171929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000119 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000159 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000268 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000316 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000348 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000366 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000478 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000598 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000924 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001155 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001250 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001760 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001999 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0011220 ORPHA:171929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000077 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000143 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000202 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000218 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000233 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000278 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000286 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000347 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000358 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000369 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000400 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000463 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000494 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0000582 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001290 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001305 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001384 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001627 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001762 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0001831 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0002007 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0002015 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0002020 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0002033 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0002266 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0002275 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0002937 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0003196 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0003199 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0005280 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0005562 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0006055 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0006958 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0009600 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0009879 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0010537 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0010851 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0011181 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0011193 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0011344 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0011451 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0011467 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0012385 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0012745 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171929 Trisomy 10p HP:0012794 ORPHA:171929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0001260 ORPHA:101110 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0001272 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0001618 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0002067 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0002514 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0007338 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0012049 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0030188 ORPHA:101110 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0000640 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0001251 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0001347 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0002066 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0002321 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0007256 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0007351 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0010545 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0030185 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0030186 ORPHA:101110 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101110 Spinocerebellar ataxia type 20 HP:0002080 ORPHA:101110 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0007328 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0007663 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0011468 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0031422 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0100275 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0000317 ORPHA:101111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002013 ORPHA:101111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002574 ORPHA:101111 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002073 ORPHA:101111 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0000012 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0000486 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0000639 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0000763 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0001761 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002066 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002464 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002522 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002650 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0002936 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0003387 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0003445 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0003487 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101111 Spinocerebellar ataxia type 25 HP:0006937 ORPHA:101111 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0001787 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0003388 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0003738 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0008305 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0008331 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0009045 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0011356 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0025474 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0025526 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0025528 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0040189 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0200039 ORPHA:284426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0001036 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0001919 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0002046 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0002910 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0003072 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0007432 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0012622 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0031190 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0031236 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0045040 ORPHA:284426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0000989 ORPHA:284426 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0001151 ORPHA:101112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0001260 ORPHA:101112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0002070 ORPHA:101112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0002073 ORPHA:101112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0007240 ORPHA:101112 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0000639 ORPHA:101112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0000641 ORPHA:101112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0001272 ORPHA:101112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0002078 ORPHA:101112 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0003487 ORPHA:101112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0007034 ORPHA:101112 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0001250 ORPHA:101112 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0002380 ORPHA:101112 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0003470 ORPHA:101112 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:101112 Spinocerebellar ataxia type 26 HP:0003474 ORPHA:101112 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0000867 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0000965 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0001939 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0002905 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0003207 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0003774 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0011122 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0011986 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0100658 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0100758 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0100806 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280062 Calciphylaxis HP:0200042 ORPHA:280062 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0001250 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0001263 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0001274 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0001338 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0002059 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0002119 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0004330 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0006824 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0009830 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0012444 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0012447 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0025517 ORPHA:85179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0000405 ORPHA:85179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0002090 ORPHA:85179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia HP:0025116 ORPHA:85179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000248 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000341 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000343 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000348 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000486 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000639 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000938 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001252 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0003100 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0005280 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010864 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0011842 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0100704 ORPHA:369837 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000079 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000121 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000365 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000431 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000540 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000767 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001627 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002069 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002123 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002150 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002650 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002705 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002714 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002750 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0003072 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0003282 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0008676 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0009824 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010818 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0012373 ORPHA:369837 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000107 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000110 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000272 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000347 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000369 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000483 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000545 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000582 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000826 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000829 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001272 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001363 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001382 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001513 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001631 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001643 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0001723 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002020 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002101 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002121 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002155 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002263 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002283 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002720 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002850 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0002870 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0003186 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0006480 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0006961 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010536 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010804 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010841 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0010850 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0011199 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0011470 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0012718 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0025330 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0030856 ORPHA:369837 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002652 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002753 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002834 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002982 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002986 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003022 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003031 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003856 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003871 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003874 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003985 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0003986 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0004026 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0005622 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0006387 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0006413 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0006429 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0008783 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0008804 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0010498 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0010502 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0010540 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0010639 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0011001 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0032208 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0100670 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0100916 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0100917 ORPHA:85188 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0000938 ORPHA:85188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0002650 ORPHA:85188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type HP:0006323 ORPHA:85188 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000218 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000242 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000256 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000260 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000272 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000347 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000494 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000520 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000885 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000938 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0000940 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0001248 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0001760 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0002212 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0002645 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0002673 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0002703 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0002753 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0005446 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0006391 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0006429 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0008438 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0009911 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0010539 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0011001 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type HP:0011220 ORPHA:85184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0200026 ORPHA:293381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0009926 ORPHA:293381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0000613 ORPHA:293381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0001131 ORPHA:293381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0000622 ORPHA:293381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0008039 ORPHA:293381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0000495 ORPHA:293381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0000559 ORPHA:293381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0000529 ORPHA:293381 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0031792 ORPHA:293381 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:293381 Epithelial recurrent erosion dystrophy HP:0001097 ORPHA:293381 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0000735 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0001249 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0001250 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0001263 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0003160 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0003642 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0008947 ORPHA:280071 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0000252 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0000365 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0000504 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0001276 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0001347 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0001999 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0011968 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0000278 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0000343 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0000348 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0000486 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0000958 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0001251 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0001508 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0002059 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0002179 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0002282 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0002375 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0002500 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0002509 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0002572 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0002650 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0002910 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0003186 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0005968 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0008000 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0008936 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0009124 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0010851 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0011842 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0012448 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0012704 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280071 ALG11-CDG HP:0012762 ORPHA:280071 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000505 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000548 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000926 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0001156 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0002812 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0002979 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003015 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003025 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003026 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003300 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003510 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0005054 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0005930 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0006487 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0007703 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0008905 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0009803 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0010049 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0010583 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0030329 ORPHA:85167 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000539 ORPHA:85167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000887 ORPHA:85167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000946 ORPHA:85167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0003375 ORPHA:85167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0031171 ORPHA:85167 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000486 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000568 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000589 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000602 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000639 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0001105 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0001132 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0002650 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0007401 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0007688 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0007957 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0009918 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0012153 ORPHA:85167 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0001249 ORPHA:85167 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:85168 Craniofacial conodysplasia HP:0000238 ORPHA:85168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85168 Craniofacial conodysplasia HP:0000271 ORPHA:85168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85168 Craniofacial conodysplasia HP:0002176 ORPHA:85168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85168 Craniofacial conodysplasia HP:0004439 ORPHA:85168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85168 Craniofacial conodysplasia HP:0010230 ORPHA:85168 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0001156 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0004268 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0005793 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0005819 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0006239 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85169 Familial digital arthropathy-brachydactyly HP:0009882 ORPHA:85169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101108 Spinocerebellar ataxia type 23 HP:0001347 ORPHA:101108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101108 Spinocerebellar ataxia type 23 HP:0002066 ORPHA:101108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101108 Spinocerebellar ataxia type 23 HP:0002070 ORPHA:101108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101108 Spinocerebellar ataxia type 23 HP:0002073 ORPHA:101108 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101108 Spinocerebellar ataxia type 23 HP:0000514 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101108 Spinocerebellar ataxia type 23 HP:0001260 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101108 Spinocerebellar ataxia type 23 HP:0001310 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101108 Spinocerebellar ataxia type 23 HP:0003487 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101108 Spinocerebellar ataxia type 23 HP:0006886 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101108 Spinocerebellar ataxia type 23 HP:0010831 ORPHA:101108 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0001260 ORPHA:101109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002066 ORPHA:101109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002070 ORPHA:101109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002395 ORPHA:101109 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000508 ORPHA:101109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000514 ORPHA:101109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000597 ORPHA:101109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000639 ORPHA:101109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0003487 ORPHA:101109 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0001300 ORPHA:101109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0030186 ORPHA:101109 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000708 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0000716 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0001257 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0001332 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002063 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002346 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002354 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0002451 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:101109 Spinocerebellar ataxia type 28 HP:0100543 ORPHA:101109 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85174 Pseudodiastrophic dysplasia HP:0000272 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85174 Pseudodiastrophic dysplasia HP:0000926 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85174 Pseudodiastrophic dysplasia HP:0001539 ORPHA:85174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85174 Pseudodiastrophic dysplasia HP:0001762 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85174 Pseudodiastrophic dysplasia HP:0030680 ORPHA:85174 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85174 Pseudodiastrophic dysplasia HP:0002650 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85174 Pseudodiastrophic dysplasia HP:0003042 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85174 Pseudodiastrophic dysplasia HP:0006243 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85174 Pseudodiastrophic dysplasia HP:0008905 ORPHA:85174 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85175 Astley-Kendall dysplasia HP:0002703 ORPHA:85175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85175 Astley-Kendall dysplasia HP:0002983 ORPHA:85175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85175 Astley-Kendall dysplasia HP:0008873 ORPHA:85175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85175 Astley-Kendall dysplasia HP:0010655 ORPHA:85175 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0002652 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0002827 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0002868 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0002990 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0003027 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0004018 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0004322 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0006413 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0006434 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0006487 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0006633 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0008808 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0010508 ORPHA:85170 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0001249 ORPHA:85170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85170 Mesomelic dysplasia, Savarirayan type HP:0003042 ORPHA:85170 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000252 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000272 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000444 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000446 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000518 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000520 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000926 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0001762 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0002007 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0003311 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0004279 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0004322 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0004582 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0010230 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0011833 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0200055 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0000028 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0000047 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0000078 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0000126 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0000135 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0000369 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0000835 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0001252 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0001511 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0002007 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0002983 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0005280 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85173 IMAGe syndrome HP:0100255 ORPHA:85173 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000219 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000316 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000324 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000430 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000431 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000445 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000456 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001155 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001511 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0002714 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0002817 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0004209 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0007874 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0010939 ORPHA:521308 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000453 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001274 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001631 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001763 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0007330 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0008115 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0012165 ORPHA:521308 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0001249 ORPHA:521308 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002719 ORPHA:331235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0032169 ORPHA:331235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0001047 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0001510 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0200043 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0030880 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002850 ORPHA:331235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002205 ORPHA:331235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0012432 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0000491 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002720 ORPHA:331235 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0004315 ORPHA:331235 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0011109 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0000010 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002110 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0032261 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0032262 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002960 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0000872 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002725 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0001370 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0001973 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0001904 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0003493 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0012204 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0100658 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002840 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0005353 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0000388 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0025439 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0031691 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0030757 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0033430 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0011370 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0007499 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0100537 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002837 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0031292 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0032275 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0012203 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0009098 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002028 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0032170 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0012393 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0003193 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002099 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0031047 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0006775 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0012539 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002890 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0012126 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0045080 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0032218 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0005415 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0030380 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0032140 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0100280 ORPHA:331235 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002788 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0006532 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0011108 ORPHA:331235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0002716 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0004798 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0001287 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:331235 Selective IgM deficiency HP:0100806 ORPHA:331235 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0000969 ORPHA:263665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0005523 ORPHA:263665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0100828 ORPHA:263665 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0002027 ORPHA:263665 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0002014 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0002019 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0002020 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0002253 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0002573 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0002588 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0002592 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0004295 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0005266 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:263665 NK-cell enteropathy HP:0012425 ORPHA:263665 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000023 ORPHA:2196 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000112 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000545 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000567 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000639 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000787 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000790 ORPHA:2196 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0001116 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0001537 ORPHA:2196 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0007703 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0100530 ORPHA:2196 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000256 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000750 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001263 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001290 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001319 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0031936 ORPHA:457279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000478 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000718 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000729 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000733 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000744 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001344 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001999 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002317 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002342 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002465 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002650 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0010864 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0025160 ORPHA:457279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000276 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000325 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000369 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000486 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000494 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001251 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001273 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001627 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001629 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002389 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002500 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0003196 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0006956 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0011220 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0011800 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0100702 ORPHA:457279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000176 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000218 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000219 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000260 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000268 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000324 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000343 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000483 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001137 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001250 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001284 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001357 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001374 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001583 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001631 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001647 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001655 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0001943 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002007 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002021 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002028 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0002558 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0005216 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0005988 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0011937 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0100350 ORPHA:457279 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0000519 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0001263 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0001317 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0002342 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0006808 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85163 Hypomyelination-congenital cataract syndrome HP:0007256 ORPHA:85163 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome HP:0000365 ORPHA:85164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome HP:0002650 ORPHA:85164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome HP:0100490 ORPHA:85164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome HP:0100491 ORPHA:85164 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0000252 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0000889 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0000956 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0002079 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0002197 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0002980 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0002982 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0005871 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0009118 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0010502 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0010864 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0011344 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0012081 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0012444 ORPHA:85165 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000175 ORPHA:85166 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000272 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000369 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000774 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000882 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0000926 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0001191 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0001561 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0001773 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0001789 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0002089 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0002652 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0002970 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0002983 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0003021 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0003090 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0003270 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0004279 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0005280 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0006487 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0008839 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0008873 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0009882 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0010306 ORPHA:85166 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85166 Platyspondylic dysplasia, Torrance type HP:0011220 ORPHA:85166 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:409 Hyperkeratosis lenticularis perstans HP:0000989 ORPHA:409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:409 Hyperkeratosis lenticularis perstans HP:0002671 ORPHA:409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:409 Hyperkeratosis lenticularis perstans HP:0002860 ORPHA:409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:409 Hyperkeratosis lenticularis perstans HP:0007570 ORPHA:409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:409 Hyperkeratosis lenticularis perstans HP:0008065 ORPHA:409 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:409 Hyperkeratosis lenticularis perstans HP:0200034 ORPHA:409 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:409 Hyperkeratosis lenticularis perstans HP:0200042 ORPHA:409 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0000972 ORPHA:2199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0007543 ORPHA:2199 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0001217 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0001220 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0001231 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0007447 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0010765 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0025092 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0032541 ORPHA:2199 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0000975 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0008066 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0010829 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0010830 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0012385 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2199 Epidermolytic palmoplantar keratoderma HP:0025114 ORPHA:2199 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0000982 ORPHA:2198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002017 ORPHA:2198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002239 ORPHA:2198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002250 ORPHA:2198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0100751 ORPHA:2198 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0001541 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0001824 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002015 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002020 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002033 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0002240 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0004396 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0025270 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0045026 ORPHA:2198 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0100760 ORPHA:2198 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0001260 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0001324 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0002015 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0002380 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0003202 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0003394 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:85162 Facial onset sensory and motor neuronopathy HP:0003401 ORPHA:85162 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2197 Idiopathic hypercalciuria HP:0002150 ORPHA:2197 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2197 Idiopathic hypercalciuria HP:0012637 ORPHA:2197 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2197 Idiopathic hypercalciuria HP:0000938 ORPHA:2197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2197 Idiopathic hypercalciuria HP:0008672 ORPHA:2197 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2197 Idiopathic hypercalciuria HP:0000939 ORPHA:2197 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2197 Idiopathic hypercalciuria HP:0003529 ORPHA:2197 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2197 Idiopathic hypercalciuria HP:0004363 ORPHA:2197 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0003072 ORPHA:405 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0003127 ORPHA:405 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0003513 ORPHA:405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0003529 ORPHA:405 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002749 ORPHA:405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0003072 ORPHA:405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0008732 ORPHA:405 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0000934 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002017 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002315 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002574 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002918 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0004398 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0012378 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0012609 ORPHA:405 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0000787 ORPHA:405 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0001733 ORPHA:405 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002199 ORPHA:405 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0002960 ORPHA:405 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0012032 ORPHA:405 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:405 Familial hypocalciuric hypercalcemia HP:0000121 ORPHA:405 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0000028 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0000939 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0001249 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0001250 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0001252 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0001263 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0001315 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0001942 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0002167 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0002353 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0002650 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0003198 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0003236 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0003307 ORPHA:408 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0003457 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0004322 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:408 Isolated glycerol kinase deficiency HP:0008182 ORPHA:408 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0001250 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0002079 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0002154 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0002353 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0010851 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0001252 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0012705 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0100247 ORPHA:407 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0001254 ORPHA:407 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0002033 ORPHA:407 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0002123 ORPHA:407 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0005957 ORPHA:407 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:407 Glycine encephalopathy HP:0005972 ORPHA:407 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001263 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001433 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001531 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001999 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0004482 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0006528 ORPHA:228426 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000520 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000821 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001971 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0002719 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0002960 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0008947 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0011471 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0012115 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0025379 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0100646 ORPHA:228426 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000268 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000269 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000331 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000368 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000453 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0000508 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001394 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001409 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001876 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001904 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0002007 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0002242 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0003262 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0003453 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0006554 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0011800 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0012385 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0025329 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0030084 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0030151 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0031104 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency HP:0100651 ORPHA:228426 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0000677 ORPHA:99798 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0005216 ORPHA:99798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0000684 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0000687 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0000689 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0000690 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0000691 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0000696 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0006289 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0006336 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0011051 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0011056 ORPHA:99798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0000202 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0000679 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0000685 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0006297 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0006342 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0006344 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0006482 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0011053 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0011078 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0011219 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99798 Oligodontia HP:0012472 ORPHA:99798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0000822 ORPHA:404 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0011740 ORPHA:404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0040084 ORPHA:404 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0011746 ORPHA:404 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0000360 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0000421 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0001324 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0002018 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0002170 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0002315 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0002900 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0008221 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0200114 ORPHA:404 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:404 Familial hyperaldosteronism type II HP:0011739 ORPHA:404 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0000822 ORPHA:403 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0011739 ORPHA:403 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0008221 ORPHA:403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0040084 ORPHA:403 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0000360 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0000421 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0001324 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0001959 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0002018 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0002170 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0002315 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0002900 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0011410 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:403 Familial hyperaldosteronism type I HP:0011746 ORPHA:403 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0001407 ORPHA:400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0001880 ORPHA:400 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0001824 ORPHA:400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0002611 ORPHA:400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0010702 ORPHA:400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0012378 ORPHA:400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0410019 ORPHA:400 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0000775 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0002240 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0002904 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0002910 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0003155 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0005230 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0005948 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0011458 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0025615 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0030948 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0031983 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0032101 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0032445 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0100845 ORPHA:400 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0000107 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0000138 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0000478 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0000925 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0000952 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0001025 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0001627 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0001732 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0002099 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0002585 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0003011 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0010576 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0011355 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0012062 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0012578 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0030423 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0031630 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0031700 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0045058 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:400 Cystic echinococcosis HP:0100592 ORPHA:400 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0000539 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0000545 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0000575 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0000622 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0001123 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0001133 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0030604 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0030644 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0030786 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0200057 ORPHA:284454 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0000510 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0000512 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0000580 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0000603 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0007663 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0007722 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0007814 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0011531 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0012377 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0030662 ORPHA:284454 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0000572 ORPHA:284454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0000610 ORPHA:284454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0008046 ORPHA:284454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:284454 Acute zonal occult outer retinopathy HP:0030499 ORPHA:284454 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0000518 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0001265 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0001344 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002240 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002355 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002515 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002910 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003198 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003307 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003326 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003394 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003560 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0003701 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0006785 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0006889 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0012762 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0040081 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0100295 ORPHA:369840 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0000252 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0001397 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002069 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002072 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002078 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0008947 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0025313 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0002091 ORPHA:369840 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0005133 ORPHA:369840 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0000238 ORPHA:2185 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0000256 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0000324 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0000358 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0000414 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0000486 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0000494 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0000612 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0001249 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0001250 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0001270 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0002007 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0002119 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0002472 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0002536 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0030048 ORPHA:2185 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0000407 ORPHA:2185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0000648 ORPHA:2185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0001104 ORPHA:2185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0001339 ORPHA:2185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2185 Congenital hydrocephalus HP:0001627 ORPHA:2185 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0000079 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0000286 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0000445 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0000765 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0001334 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0001636 ORPHA:2184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0001643 ORPHA:2184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0003189 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0004299 ORPHA:2184 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome HP:0010772 ORPHA:2184 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000238 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000470 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000771 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000815 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0001256 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0001513 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0001634 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0002162 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0002705 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0002967 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0004322 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0010044 ORPHA:2183 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000027 ORPHA:2183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0000864 ORPHA:2183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0002550 ORPHA:2183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome HP:0007464 ORPHA:2183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0000238 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0000280 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0000486 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0000639 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001181 ORPHA:2182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001250 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001257 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001274 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001331 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001360 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0001387 ORPHA:2182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0002410 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0002516 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0004374 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0010864 ORPHA:2182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0003281 ORPHA:254704 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0001808 ORPHA:254704 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0002829 ORPHA:254704 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0012378 ORPHA:254704 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0000518 ORPHA:254704 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0012465 ORPHA:254704 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0040130 ORPHA:254704 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:254704 Genetic hyperferritinemia without iron overload HP:0040135 ORPHA:254704 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0000098 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0000238 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001166 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001181 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001519 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0002808 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0005692 ORPHA:2181 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001288 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001537 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0001659 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0002007 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0002301 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0002650 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0002705 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome HP:0003834 ORPHA:2181 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000238 ORPHA:2180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000303 ORPHA:2180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000912 ORPHA:2180 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000218 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000256 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000272 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000316 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000348 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000369 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000414 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000431 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000448 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000463 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000682 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000708 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000772 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000992 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0001000 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0001156 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0001249 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0001513 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0001852 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0002650 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0002937 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0003312 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0005280 ORPHA:2180 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000486 ORPHA:2180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000545 ORPHA:2180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0006610 ORPHA:2180 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0000518 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0001249 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0001263 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002072 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002078 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002355 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002487 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002650 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0003198 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0003326 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0006785 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0009020 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0009073 ORPHA:369847 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0000486 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0000545 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0001250 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002059 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0002091 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0005133 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0008947 ORPHA:369847 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000238 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000278 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000347 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0001162 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0001274 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0001331 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0001561 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0001622 ORPHA:2189 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000175 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000176 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000193 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000368 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000369 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000490 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0001601 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0002086 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0004408 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0030680 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0030690 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0100333 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0100682 ORPHA:2189 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000028 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000528 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0000568 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0002139 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0002323 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0002983 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2189 Hydrolethalus HP:0011027 ORPHA:2189 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001249 ORPHA:457284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001250 ORPHA:457284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000194 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000297 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000316 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001252 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001263 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001274 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001344 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001357 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0002079 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0002119 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0002465 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0002650 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0012448 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0100704 ORPHA:457284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000023 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000122 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000151 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000238 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000324 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000463 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000478 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000609 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000752 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0000767 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001382 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001385 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0003250 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0004209 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0005487 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0006955 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0010055 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0010721 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0011471 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0012304 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0025607 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0100259 ORPHA:457284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0007166 ORPHA:53583 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0000651 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001249 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001258 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001260 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001266 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001332 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0001347 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0002131 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0002315 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0003401 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0007256 ORPHA:53583 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0002069 ORPHA:53583 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2295 Familial articular hypermobility syndrome HP:0000023 ORPHA:2295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2295 Familial articular hypermobility syndrome HP:0001374 ORPHA:2295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2295 Familial articular hypermobility syndrome HP:0002815 ORPHA:2295 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2295 Familial articular hypermobility syndrome HP:0002823 ORPHA:2295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2295 Familial articular hypermobility syndrome HP:0002999 ORPHA:2295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2295 Familial articular hypermobility syndrome HP:0003834 ORPHA:2295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2295 Familial articular hypermobility syndrome HP:0005692 ORPHA:2295 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2295 Familial articular hypermobility syndrome HP:0009811 ORPHA:2295 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome HP:0003307 ORPHA:2292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome HP:0006487 ORPHA:2292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2291 Congenital velopharyngeal incompetence HP:0000174 ORPHA:2291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2291 Congenital velopharyngeal incompetence HP:0000220 ORPHA:2291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2291 Congenital velopharyngeal incompetence HP:0000365 ORPHA:2291 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2291 Congenital velopharyngeal incompetence HP:0000600 ORPHA:2291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2291 Congenital velopharyngeal incompetence HP:0001608 ORPHA:2291 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0000121 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0000989 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0001263 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0001942 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0001944 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0002014 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0003270 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0011106 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0011472 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0011473 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2290 Microvillus inclusion disease HP:0012211 ORPHA:2290 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0030148 ORPHA:2299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0032092 ORPHA:2299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0032554 ORPHA:2299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0000822 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0000961 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001627 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001629 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001635 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001712 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0002098 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0002789 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0008872 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0010741 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0020142 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0030973 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0031273 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0031664 ORPHA:2299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001643 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001647 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001659 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001660 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001669 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0002315 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0002875 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0004417 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0005180 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0011604 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0011712 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0031784 ORPHA:2299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001719 ORPHA:2299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0001750 ORPHA:2299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2299 Aortic arch interruption HP:0010883 ORPHA:2299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0000093 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0000123 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0000147 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0000825 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0000831 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0001952 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0000842 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0000855 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0000956 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0000988 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0001007 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0001596 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0001824 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0001873 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0001882 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0001946 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0001952 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0001953 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0002090 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0002613 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0002665 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0002725 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0002758 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0002960 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0003073 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0003074 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0003076 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0003119 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0003162 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0003237 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0003261 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0003493 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0003565 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0004323 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0004324 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0004325 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0004359 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0004361 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0004924 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0005416 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0005978 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0006775 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0008283 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0008675 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0010286 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0011998 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0012153 ORPHA:2298 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0012189 ORPHA:2298 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0012378 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0030088 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2298 Insulin-resistance syndrome type B HP:0100879 ORPHA:2298 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2297 Insulin-resistance syndrome type A HP:0000823 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2297 Insulin-resistance syndrome type A HP:0000962 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2297 Insulin-resistance syndrome type A HP:0001482 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2297 Insulin-resistance syndrome type A HP:0002230 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2297 Insulin-resistance syndrome type A HP:0005616 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2297 Insulin-resistance syndrome type A HP:0005978 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2297 Insulin-resistance syndrome type A HP:0007440 ORPHA:2297 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000028 ORPHA:228402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000194 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000232 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000248 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000252 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000272 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000280 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000337 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000664 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000733 ORPHA:228402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000749 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000750 ORPHA:228402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000752 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0001250 ORPHA:228402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0001251 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0001252 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0001385 ORPHA:228402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0001510 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0001572 ORPHA:228402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0001852 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0002019 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0002230 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0002360 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0002553 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0002591 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0004209 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0004279 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0004322 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0008736 ORPHA:228402 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0010804 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0010864 ORPHA:228402 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0100716 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69061 Idiopathic steroid-sensitive nephrotic syndrome HP:0000100 ORPHA:69061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69061 Idiopathic steroid-sensitive nephrotic syndrome HP:0001004 ORPHA:69061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000218 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000268 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000276 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000322 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000337 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000347 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000369 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000377 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000448 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000508 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000678 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0000951 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0001249 ORPHA:228410 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0001634 ORPHA:228410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0001642 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0001650 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0001654 ORPHA:228410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0001699 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0002750 ORPHA:228410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0004322 ORPHA:228410 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0005180 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0005692 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228410 Polyvalvular heart disease syndrome HP:0011675 ORPHA:228410 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization HP:0000099 ORPHA:69063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization HP:0000100 ORPHA:69063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization HP:0030949 ORPHA:69063 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization HP:0000083 ORPHA:69063 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0001075 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0001370 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0001945 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0002037 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0002829 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0002863 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0003326 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0008066 ORPHA:48104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0010702 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0012324 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0100614 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0200034 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0200037 ORPHA:48104 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0200039 ORPHA:48104 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:48104 Pyoderma gangrenosum HP:0200042 ORPHA:48104 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000252 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000316 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000324 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000347 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000365 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000431 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000463 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0001290 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0001511 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0001643 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0002092 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0002205 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0002553 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0003196 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0004322 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0006801 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0008551 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0010864 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0011968 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0012418 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000028 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000037 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000047 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000049 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000054 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000185 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000470 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000508 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000924 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0011819 ORPHA:2282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000600 ORPHA:2289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000602 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000639 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000648 ORPHA:2289 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000708 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0000726 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0001250 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0001251 ORPHA:2289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0001260 ORPHA:2289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0001276 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0001347 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0002167 ORPHA:2289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0002353 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0002650 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0003298 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0003312 ORPHA:2289 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0003457 ORPHA:2289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2289 Neuronal intranuclear inclusion disease HP:0100022 ORPHA:2289 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2287 Fused mandibular incisors HP:0000164 ORPHA:2287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2287 Fused mandibular incisors HP:0006288 ORPHA:2287 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2285 Primary basilar invagination HP:0000470 ORPHA:2285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2285 Primary basilar invagination HP:0000496 ORPHA:2285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2285 Primary basilar invagination HP:0000600 ORPHA:2285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2285 Primary basilar invagination HP:0001608 ORPHA:2285 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2285 Primary basilar invagination HP:0002691 ORPHA:2285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2285 Primary basilar invagination HP:0003319 ORPHA:2285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2285 Primary basilar invagination HP:0003468 ORPHA:2285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2285 Primary basilar invagination HP:0005758 ORPHA:2285 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228415 5q35 microduplication syndrome HP:0000252 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228415 5q35 microduplication syndrome HP:0000545 ORPHA:228415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228415 5q35 microduplication syndrome HP:0000708 ORPHA:228415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228415 5q35 microduplication syndrome HP:0001249 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228415 5q35 microduplication syndrome HP:0001250 ORPHA:228415 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:228415 5q35 microduplication syndrome HP:0001328 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228415 5q35 microduplication syndrome HP:0001510 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:228415 5q35 microduplication syndrome HP:0002750 ORPHA:228415 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:228415 5q35 microduplication syndrome HP:0004322 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0000252 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0001249 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0001250 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0001263 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0001272 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0001290 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0001508 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0011968 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0012345 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0000028 ORPHA:370921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0000046 ORPHA:370921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0000054 ORPHA:370921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370921 STT3A-CDG HP:0007772 ORPHA:370921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000077 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000126 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000252 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000400 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000453 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000483 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000491 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000492 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000498 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000509 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000545 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000554 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000639 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000682 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000925 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000926 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001025 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001155 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001252 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001274 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001321 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001331 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000613 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0008070 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001249 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001250 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001328 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001595 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001596 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0008064 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0200034 ORPHA:2273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000499 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000614 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000726 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000962 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000964 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000966 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001268 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001508 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001510 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001597 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001804 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001812 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002046 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002205 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002223 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002376 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002718 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002719 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002721 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0004370 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0010783 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0011968 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0012742 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0045074 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0200020 ORPHA:2273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000023 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000028 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000072 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0001539 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002007 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002120 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002251 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002750 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0002808 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0003468 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0003510 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0007957 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0010935 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0012157 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0012165 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0040163 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100257 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100308 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100490 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100532 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100534 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0100825 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0000252 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0000271 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0000958 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0001347 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0002445 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0003011 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0007021 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0008064 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000365 ORPHA:369939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0001508 ORPHA:369939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0001999 ORPHA:369939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0007256 ORPHA:369939 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000252 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000486 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0001511 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0001954 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0002445 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0006808 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000496 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000648 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000718 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000752 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0001272 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0002120 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0003429 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0007371 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0012444 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0012762 ORPHA:369939 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0000218 ORPHA:171881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0000276 ORPHA:171881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0001270 ORPHA:171881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0001315 ORPHA:171881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0004303 ORPHA:171881 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0000767 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0001290 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0001611 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0001634 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0001763 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0002359 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0002421 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0002616 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0002938 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0002943 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0003388 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0003391 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0003551 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0003557 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0003700 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0006673 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0007110 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0007210 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0007340 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0008081 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0009046 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0010628 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0011703 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0030200 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:171881 Cap myopathy HP:0030051 ORPHA:171881 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0002888 ORPHA:251639 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0002076 ORPHA:251639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0012531 ORPHA:251639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0025461 ORPHA:251639 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0001250 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0001288 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0002013 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0002460 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0010302 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0012534 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0030693 ORPHA:251639 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0002896 ORPHA:251639 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0100013 ORPHA:251639 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0100526 ORPHA:251639 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251639 Subependymoma HP:0100615 ORPHA:251639 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0001249 ORPHA:2278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0001508 ORPHA:2278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0003510 ORPHA:2278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0007479 ORPHA:2278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0000164 ORPHA:2278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0000518 ORPHA:2278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0001231 ORPHA:2278 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0003355 ORPHA:2278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0008209 ORPHA:2278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0100006 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0005107 ORPHA:251643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0008069 ORPHA:251643 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0000372 ORPHA:251643 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0002888 ORPHA:251643 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0031938 ORPHA:251643 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0002013 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0002315 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0002317 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0005341 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0012700 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251643 Myxopapillary ependymoma HP:0030833 ORPHA:251643 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0000726 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0001251 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0001265 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0001288 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0001744 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0002167 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0002240 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0008064 ORPHA:2274 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0001785 ORPHA:568051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0003550 ORPHA:568051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0003759 ORPHA:568051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0010741 ORPHA:568051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0100766 ORPHA:568051 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0000282 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0001581 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0002619 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0005293 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0007514 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0100658 ORPHA:568051 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0000508 ORPHA:568051 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:568051 GJC2-related late-onset primary lymphedema HP:0031188 ORPHA:568051 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0000246 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0000388 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0000988 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0001287 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0001369 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0001508 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0001864 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0001873 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0001874 ORPHA:229717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0001903 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0001945 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0001999 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0002014 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0002024 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0002090 ORPHA:229717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0002205 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0002721 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0002960 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0004322 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0004332 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0012378 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0100533 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0100658 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0100763 ORPHA:229717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0100765 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0100806 ORPHA:229717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0100838 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:229717 Isolated agammaglobulinemia HP:0200042 ORPHA:229717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000047 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000174 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000243 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000252 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000368 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000396 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000444 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000664 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0001231 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0001249 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0001252 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0001387 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0004209 ORPHA:2261 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0008388 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0011800 ORPHA:2261 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0000083 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0000093 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0003259 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0005563 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0012213 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0012575 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0012584 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0030162 ORPHA:2260 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0000092 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0001518 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0001622 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0003774 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0011035 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0025361 ORPHA:2260 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0001944 ORPHA:2260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0001959 ORPHA:2260 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0000122 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0000271 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0000347 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0000365 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0000588 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0000776 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0000822 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0001250 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0001684 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0002089 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0006518 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0009796 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0012758 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2260 Oligomeganephronia HP:0040064 ORPHA:2260 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000822 ORPHA:369929 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000859 ORPHA:369929 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0040084 ORPHA:369929 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001250 ORPHA:369929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001263 ORPHA:369929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001714 ORPHA:369929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002900 ORPHA:369929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0100021 ORPHA:369929 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001258 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001959 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002069 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002092 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002305 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002384 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0010864 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0011166 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0011410 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0011706 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0100285 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0100704 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0200114 ORPHA:369929 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000360 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000421 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000787 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0001629 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002018 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002170 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0002315 ORPHA:369929 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0008221 ORPHA:369929 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0011739 ORPHA:369929 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001249 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002221 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002293 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002555 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0005597 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0007503 ORPHA:2269 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0000656 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0000958 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0000973 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001263 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002194 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002317 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0005595 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0012472 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0025092 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0040189 ORPHA:2269 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001344 ORPHA:2269 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0045075 ORPHA:2269 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0000135 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0000707 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001103 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001250 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001257 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0002063 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0010550 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0030182 ORPHA:2269 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0002888 ORPHA:251636 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0002076 ORPHA:251636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0012531 ORPHA:251636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0025461 ORPHA:251636 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0001250 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0001288 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0002013 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0002460 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0010302 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0012534 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0030693 ORPHA:251636 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0002896 ORPHA:251636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0100013 ORPHA:251636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0100526 ORPHA:251636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251636 Ependymoma HP:0100615 ORPHA:251636 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0000158 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0000256 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0000286 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0000316 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0000347 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0000369 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0001249 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0001263 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0001334 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0001537 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0001874 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0001888 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0001903 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0002024 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0002205 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0002721 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0003220 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0004313 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0004322 ORPHA:2268 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0005280 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0005374 ORPHA:2268 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0010808 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2268 ICF syndrome HP:0012368 ORPHA:2268 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type HP:0008070 ORPHA:2266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type HP:0001249 ORPHA:2266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type HP:0006088 ORPHA:2266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type HP:0006288 ORPHA:2266 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0000238 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0000716 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0001181 ORPHA:275543 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0001249 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0001250 ORPHA:275543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0001257 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0001263 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0001288 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0001347 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0002017 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0002251 ORPHA:275543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0002315 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0002410 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0002463 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0003202 ORPHA:275543 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275543 L1 syndrome HP:0004374 ORPHA:275543 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0000083 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0000093 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0000100 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0000112 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0002240 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0001635 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0001639 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0001658 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0001662 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0001824 ORPHA:330001 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0002028 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0002202 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0002254 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0012332 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0002579 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0002607 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0003155 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0003115 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0011675 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0004926 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0005341 ORPHA:330001 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0006530 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0010741 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:330001 Wild type ATTR amyloidosis HP:0100598 ORPHA:330001 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0002960 ORPHA:227990 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001972 ORPHA:227990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0002582 ORPHA:227990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0002608 ORPHA:227990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0030057 ORPHA:227990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0100651 ORPHA:227990 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001045 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001596 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001882 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0002613 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0004313 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0010625 ORPHA:227990 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0000217 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0000815 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0000863 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0000938 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001094 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001097 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001370 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001970 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0001973 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0003613 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0006530 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0008066 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0010451 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0012115 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0012220 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0100522 ORPHA:227990 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0000872 ORPHA:227990 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0002728 ORPHA:227990 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0008207 ORPHA:227990 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:227990 Autoimmune polyendocrinopathy type 4 HP:0100647 ORPHA:227990 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0000953 ORPHA:2251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0008070 ORPHA:2251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001596 ORPHA:2251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0003510 ORPHA:2251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0009778 ORPHA:2251 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0000232 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0000411 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0000982 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001025 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001053 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001199 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001249 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001263 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0001328 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0002300 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0002381 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0002381 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0006482 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0008402 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0010529 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0040036 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0100490 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0100798 ORPHA:2251 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0006101 ORPHA:2251 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158008 Papular xanthoma HP:0001013 ORPHA:158008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158008 Papular xanthoma HP:0100727 ORPHA:158008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158008 Papular xanthoma HP:0200035 ORPHA:158008 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158008 Papular xanthoma HP:0003077 ORPHA:158008 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000023 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000135 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000309 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000458 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000518 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000692 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0003241 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0004409 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0006352 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0008736 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0009932 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0040326 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0100596 ORPHA:2250 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000028 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000528 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000568 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000572 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000612 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000618 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000646 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000771 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0009023 ORPHA:2250 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000175 ORPHA:2250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000176 ORPHA:2250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000193 ORPHA:2250 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158003 Xanthoma disseminatum HP:0000159 ORPHA:158003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158003 Xanthoma disseminatum HP:0000600 ORPHA:158003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158003 Xanthoma disseminatum HP:0000873 ORPHA:158003 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158003 Xanthoma disseminatum HP:0001600 ORPHA:158003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158003 Xanthoma disseminatum HP:0025426 ORPHA:158003 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158003 Xanthoma disseminatum HP:0002797 ORPHA:158003 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000303 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000343 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000400 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000718 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000742 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0001263 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000712 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002378 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002465 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002515 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002705 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0010864 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0045025 ORPHA:457212 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000073 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000574 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000748 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000821 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002540 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0002861 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0003002 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0005580 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0012114 ORPHA:457212 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0000490 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0000540 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0000639 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0001249 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0001357 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0001513 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0002079 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0002119 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0002194 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0007020 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0011220 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0011400 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0025312 ORPHA:521390 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0001561 ORPHA:521390 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0000498 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0000501 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0000520 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0000554 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0000572 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0001101 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0002086 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0005547 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0007565 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0011830 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0011886 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158000 Juvenile xanthogranuloma HP:0200064 ORPHA:158000 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0002089 ORPHA:2257 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0000961 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0002091 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0002104 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0002643 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0002789 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0012418 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0030829 ORPHA:2257 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0000175 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0000252 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0000286 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0000347 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0000369 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0001508 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0001511 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0001651 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0001684 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0002205 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0002778 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0003065 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0040045 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0000071 ORPHA:2257 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0002099 ORPHA:2257 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0002107 ORPHA:2257 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0030966 ORPHA:2257 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2257 Primary pulmonary hypoplasia HP:0032094 ORPHA:2257 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000028 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000049 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000089 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000316 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000347 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000411 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000431 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000494 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0001195 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0001561 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0001622 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0001629 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0002007 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0030680 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0003022 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0003026 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0005280 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0006101 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0006492 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0008736 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0010242 ORPHA:2256 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0100016 ORPHA:2256 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0011752 ORPHA:251623 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0011754 ORPHA:251623 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0012503 ORPHA:251623 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0001123 ORPHA:251623 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0002315 ORPHA:251623 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0000044 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0000141 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0000802 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0000824 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0000870 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0002354 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0008214 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0040171 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0008245 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0011043 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0012378 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0030018 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0040075 ORPHA:251623 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0000863 ORPHA:251623 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:251623 Pituicytoma HP:0100829 ORPHA:251623 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000857 ORPHA:2255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001629 ORPHA:2255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001631 ORPHA:2255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001655 ORPHA:2255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001738 ORPHA:2255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001249 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001508 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001511 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001518 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0002254 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0002594 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011968 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0100790 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0100801 ORPHA:2255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000851 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001250 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001319 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001562 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001636 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001642 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001643 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001669 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0002098 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0003645 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0004415 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0004762 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011573 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011581 ORPHA:2255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000073 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000776 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000891 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001195 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0001537 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0002566 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0005912 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0010626 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011466 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011611 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0011628 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0040196 ORPHA:2255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0003765 ORPHA:279914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0031035 ORPHA:279914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0200056 ORPHA:279914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0040049 ORPHA:279914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0000501 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0000518 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0000585 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0002633 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0007663 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0011484 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0011505 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0012122 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0030652 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0030661 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0100014 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0100653 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0100832 ORPHA:279914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279914 Intermediate uveitis HP:0001970 ORPHA:279914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0000093 ORPHA:275555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0000822 ORPHA:275555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0004421 ORPHA:275555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0005117 ORPHA:275555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0100767 ORPHA:275555 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0000077 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0000504 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0000707 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0001511 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0001518 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0002027 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0002315 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0002910 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0006707 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0031418 ORPHA:275555 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0000147 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0001873 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0001919 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0002360 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0002960 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0003259 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0005202 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0012622 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:275555 Preeclampsia HP:0100651 ORPHA:275555 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001252 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001263 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001265 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001270 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001324 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0002398 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0002878 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0003202 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0007360 ORPHA:2254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000253 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000529 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000639 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000648 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001508 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0011968 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0012110 ORPHA:2254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000486 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001250 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001257 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001308 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001347 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0002120 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0002350 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0003477 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0004886 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0033725 ORPHA:2254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0000565 ORPHA:2254 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0001251 ORPHA:2254 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2254 Pontocerebellar hypoplasia type 1 HP:0002804 ORPHA:2254 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000478 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000486 ORPHA:2253 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000518 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000639 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000648 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0000504 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2253 Foveal hypoplasia-presenile cataract syndrome HP:0007440 ORPHA:2253 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0000047 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0000303 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0002983 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0002984 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0005725 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0007477 ORPHA:2252 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0000286 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0000597 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0000602 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0001249 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0001276 ORPHA:99735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0001288 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0001324 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0001376 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0001608 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0002015 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0002094 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0002099 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0002486 ORPHA:99735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0003307 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0003326 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0003394 ORPHA:99735 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0003457 ORPHA:99735 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0003712 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0003720 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0004322 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99735 Myotonia permanens HP:0100749 ORPHA:99735 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0000597 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0000602 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0000821 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0001276 ORPHA:99736 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0001288 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0002015 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0002486 ORPHA:99736 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0003326 ORPHA:99736 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0003394 ORPHA:99736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0003457 ORPHA:99736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0003712 ORPHA:99736 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99736 Acetazolamide-responsive myotonia HP:0100749 ORPHA:99736 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000044 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000511 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000545 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000617 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000639 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000668 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000677 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000684 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000823 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001251 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001256 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001257 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001263 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001310 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001321 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001332 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0001347 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002015 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002079 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002080 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002134 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002174 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002312 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002376 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002403 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002415 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002464 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002493 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0003429 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0003487 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0004322 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0005341 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0025460 ORPHA:447896 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000648 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002120 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002166 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0002307 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0006858 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0009830 ORPHA:447896 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0000490 ORPHA:447896 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:447896 Tremor-ataxia-central hypomyelination syndrome HP:0007359 ORPHA:447896 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0003552 ORPHA:99734 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0100284 ORPHA:99734 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0002491 ORPHA:99734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0008967 ORPHA:99734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0012902 ORPHA:99734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0012903 ORPHA:99734 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0000622 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0000651 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0003326 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0012378 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0012899 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0012900 ORPHA:99734 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0000486 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0001288 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0001319 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0002104 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0003701 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0003740 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0010307 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0025425 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0030842 ORPHA:99734 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:99734 Myotonia fluctuans HP:0012904 ORPHA:99734 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2248 Hypoplastic left heart syndrome HP:0001643 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2248 Hypoplastic left heart syndrome HP:0001718 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2248 Hypoplastic left heart syndrome HP:0009800 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2248 Hypoplastic left heart syndrome HP:0012304 ORPHA:2248 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2248 Hypoplastic left heart syndrome HP:0001631 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2248 Hypoplastic left heart syndrome HP:0002916 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2248 Hypoplastic left heart syndrome HP:0004383 ORPHA:2248 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2248 Hypoplastic left heart syndrome HP:0011560 ORPHA:2248 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0000505 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0000512 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0000639 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0000648 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0001251 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0001252 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0001321 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0007703 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0100543 ORPHA:2246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0000952 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001396 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002155 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002904 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003073 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003119 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003128 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003155 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0004313 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0006254 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0008151 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0011966 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0012024 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0025435 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0030948 ORPHA:247598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001397 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001433 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001531 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001987 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002014 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002161 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002240 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002910 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003231 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0010903 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0010909 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0010916 ORPHA:247598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001511 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001903 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002239 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0002919 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003124 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003141 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003233 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003235 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0003354 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0004396 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0012278 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0040301 ORPHA:247598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0000518 ORPHA:247598 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0001892 ORPHA:247598 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0000003 ORPHA:2241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0000021 ORPHA:2241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0000028 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0000072 ORPHA:2241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0001522 ORPHA:2241 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0001537 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0001539 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0001561 ORPHA:2241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0002017 ORPHA:2241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0030680 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0002566 ORPHA:2241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0003270 ORPHA:2241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0004388 ORPHA:2241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0011024 ORPHA:2241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0100544 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0100771 ORPHA:2241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0100806 ORPHA:2241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0000098 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0000141 ORPHA:99725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0000280 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0000303 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0000870 ORPHA:99725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0000845 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0000975 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0001176 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0001639 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0001712 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0001833 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0002007 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0005616 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0005978 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0006767 ORPHA:99725 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0011407 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0011760 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0012411 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0030269 ORPHA:99725 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:99725 Pituitary gigantism HP:0100829 ORPHA:99725 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0000239 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0000270 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001249 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001252 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001263 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001328 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001387 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001802 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001817 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001840 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0001883 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0002983 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0002984 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0003022 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0003027 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0003042 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0003510 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0009465 ORPHA:2249 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0010059 ORPHA:2249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2249 Ulna hypoplasia-intellectual disability syndrome HP:0011304 ORPHA:2249 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0002315 ORPHA:238624 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0002516 ORPHA:238624 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0001085 ORPHA:238624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0001513 ORPHA:238624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0012393 ORPHA:238624 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0000572 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0000613 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0000622 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0000651 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0002013 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0002018 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0002360 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0010822 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0100851 ORPHA:238624 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0000716 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0001254 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0002076 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0002321 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0003418 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0008629 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238624 Idiopathic intracranial hypertension HP:0011161 ORPHA:238624 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0000112 ORPHA:69076 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0000124 ORPHA:69076 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0003076 ORPHA:69076 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0000010 ORPHA:69076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0001944 ORPHA:69076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0001946 ORPHA:69076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0008855 ORPHA:69076 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0000805 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0000855 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0003074 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0004924 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0040214 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:69076 Familial renal glucosuria HP:0040217 ORPHA:69076 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0000488 ORPHA:158029 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0000498 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0000953 ORPHA:158029 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0000967 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0000969 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0001010 ORPHA:158029 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0001482 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0001744 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0001873 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0001892 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0001982 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0002113 ORPHA:158029 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0002240 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158029 Sea-blue histiocytosis HP:0100721 ORPHA:158029 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0000737 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0000790 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0000822 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0001482 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0001824 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0001873 ORPHA:69077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0001903 ORPHA:69077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0001945 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0002017 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0002027 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0002093 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0002301 ORPHA:69077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0002315 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0002716 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0002896 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0003072 ORPHA:69077 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0004396 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0006824 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0009726 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0011029 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0012246 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0100006 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0100021 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69077 Rhabdoid tumor HP:0100242 ORPHA:69077 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69078 Liposarcoma HP:0000077 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69078 Liposarcoma HP:0001482 ORPHA:69078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69078 Liposarcoma HP:0001824 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69078 Liposarcoma HP:0002017 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69078 Liposarcoma HP:0002027 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69078 Liposarcoma HP:0002619 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69078 Liposarcoma HP:0003401 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69078 Liposarcoma HP:0012378 ORPHA:69078 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69078 Liposarcoma HP:0100242 ORPHA:69078 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0025475 ORPHA:158025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0030350 ORPHA:158025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0040138 ORPHA:158025 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0000989 ORPHA:158025 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0002716 ORPHA:158025 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:158025 Hereditary progressive mucinous histiocytosis HP:0031871 ORPHA:158025 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:370091 Oculocutaneous albinism type 5 HP:0000218 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370091 Oculocutaneous albinism type 5 HP:0000613 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370091 Oculocutaneous albinism type 5 HP:0000639 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370091 Oculocutaneous albinism type 5 HP:0001098 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370091 Oculocutaneous albinism type 5 HP:0001107 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370091 Oculocutaneous albinism type 5 HP:0007663 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:370091 Oculocutaneous albinism type 5 HP:0007750 ORPHA:370091 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000110 ORPHA:2237 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000408 ORPHA:2237 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000829 ORPHA:2237 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000076 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000083 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000113 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000122 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000126 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000860 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0002199 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0002901 ORPHA:2237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000819 ORPHA:2237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0001153 ORPHA:2237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0003762 ORPHA:2237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000148 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000151 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000175 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000510 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0001627 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0003765 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0011840 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0008850 ORPHA:2237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158022 Progressive nodular histiocytosis HP:0001482 ORPHA:158022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158022 Progressive nodular histiocytosis HP:0001945 ORPHA:158022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158022 Progressive nodular histiocytosis HP:0004326 ORPHA:158022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158022 Progressive nodular histiocytosis HP:0200034 ORPHA:158022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000044 ORPHA:2235 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000510 ORPHA:2235 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000580 ORPHA:2235 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000144 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000786 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000823 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000830 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000939 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0002750 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0003164 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0003187 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0008187 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0008202 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0008240 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0008724 ORPHA:2235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000164 ORPHA:2235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0001513 ORPHA:2235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0002757 ORPHA:2235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0004322 ORPHA:2235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0004349 ORPHA:2235 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000046 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000135 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000144 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000708 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000771 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0001249 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0002937 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0003312 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0003782 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0005978 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0008734 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0008736 ORPHA:2234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000470 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000772 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000820 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0001513 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0002231 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0004322 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0100745 ORPHA:2234 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000144 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000494 ORPHA:2233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0001256 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0001513 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0004322 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0011362 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000035 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000135 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000218 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000470 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000771 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0005916 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0001634 ORPHA:2233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0002162 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0040071 ORPHA:2233 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0001397 ORPHA:247585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0008281 ORPHA:247585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0011966 ORPHA:247585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0045082 ORPHA:247585 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0000711 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0000718 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0000737 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0000738 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0000746 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0001250 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0001254 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0001289 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0001337 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0002155 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0002240 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0002329 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0002354 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0002360 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0002910 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0003073 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0003075 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0003077 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0007159 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0012164 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0030166 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0030765 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0031258 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0100738 ORPHA:247585 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0000709 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0000752 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0000805 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0001259 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0001263 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0001395 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0001402 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0001733 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0002013 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0002014 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0002181 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0002480 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0003124 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0003233 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0010529 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0012569 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0100754 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247585 Citrullinemia type II HP:0100785 ORPHA:247585 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000815 ORPHA:2232 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0002293 ORPHA:2232 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0008193 ORPHA:2232 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000028 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000219 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000534 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000786 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000789 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000802 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000823 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000837 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000938 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000939 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0001510 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0001596 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0003187 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0003799 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0005469 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0007464 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0008187 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0008214 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0040171 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0008633 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0008684 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0010463 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0010464 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0011961 ORPHA:2232 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000252 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0045075 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0001256 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0002225 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0002652 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0002808 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0002938 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000365 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0001199 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0003393 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0006184 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0009185 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0010487 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0012506 ORPHA:2232 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370097 Oculocutaneous albinism type 6 HP:0000613 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370097 Oculocutaneous albinism type 6 HP:0000639 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370097 Oculocutaneous albinism type 6 HP:0001098 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370097 Oculocutaneous albinism type 6 HP:0007663 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370097 Oculocutaneous albinism type 6 HP:0008034 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370097 Oculocutaneous albinism type 6 HP:0008059 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370097 Oculocutaneous albinism type 6 HP:0030613 ORPHA:370097 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0002960 ORPHA:525731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0011703 ORPHA:525731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0011784 ORPHA:525731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0031506 ORPHA:525731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0100647 ORPHA:525731 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000237 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000492 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000520 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000712 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000737 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000752 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000853 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000975 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001337 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001508 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001744 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001959 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001962 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0002014 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0002240 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0002487 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0002591 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0002910 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0005616 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0008373 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0011788 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0025379 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0031284 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0100785 ORPHA:525731 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000708 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000822 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000952 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001363 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001511 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001562 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001622 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001873 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0002017 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0005110 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0010519 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0100534 ORPHA:525731 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000252 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0000491 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001263 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001635 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0001904 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0012768 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:525731 Pediatric-onset Graves disease HP:0200028 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000154 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000445 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000490 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000687 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0008897 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0010864 ORPHA:319671 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000272 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000322 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000325 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000369 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000733 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000739 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000965 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0001072 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0012471 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0012745 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0040196 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0045025 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0045075 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0100738 ORPHA:319671 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000315 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000486 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0000742 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0001250 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0001631 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0002360 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0002650 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0003100 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0010535 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0011220 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:319671 Alazami syndrome HP:0012171 ORPHA:319671 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0005227 ORPHA:447877 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0012114 ORPHA:447877 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0200063 ORPHA:447877 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0003002 ORPHA:447877 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0030692 ORPHA:447877 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0040276 ORPHA:447877 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:447877 Polymerase proofreading-related adenomatous polyposis HP:0100743 ORPHA:447877 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0025337 ORPHA:280914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0200026 ORPHA:280914 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0000501 ORPHA:280914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0040049 ORPHA:280914 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0000613 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0000616 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0000622 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0007787 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0007906 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0011484 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0100018 ORPHA:280914 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280914 Idiopathic anterior uveitis HP:0012796 ORPHA:280914 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0000252 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0000448 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0000601 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0000786 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001191 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001250 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001263 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001385 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001513 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0001607 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0002750 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0003067 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0004209 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0004220 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0004322 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0004626 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0008551 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0008846 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0008850 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0009826 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0010864 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0012814 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002901 ORPHA:2239 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0008198 ORPHA:2239 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0008211 ORPHA:2239 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002150 ORPHA:2239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002199 ORPHA:2239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002905 ORPHA:2239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0003251 ORPHA:2239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002917 ORPHA:2239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0000112 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0000518 ORPHA:2238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0000682 ORPHA:2238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0000684 ORPHA:2238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0000829 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0001250 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0002514 ORPHA:2238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0002901 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0003198 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0004322 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0011675 ORPHA:2238 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2238 Familial isolated hypoparathyroidism HP:0100530 ORPHA:2238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0007427 ORPHA:69087 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0007455 ORPHA:69087 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000164 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000958 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000966 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001808 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0002046 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0006482 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0007500 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0008392 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0008404 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0031282 ORPHA:69087 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000670 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000970 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0000972 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001010 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001056 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001220 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001806 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0001810 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0005586 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0006253 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0006286 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0006297 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0006480 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0007530 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0007599 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0011069 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0012785 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome HP:0031045 ORPHA:69087 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0002960 ORPHA:227982 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0000872 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001972 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0002582 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0002608 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0030057 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0100647 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0100651 ORPHA:227982 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001045 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001596 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001882 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0002613 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0004313 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0010625 ORPHA:227982 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0000217 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0000815 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0000863 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0000938 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001094 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001097 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001370 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001970 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0001973 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0003613 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0006530 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0008066 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0010451 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0011771 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0012115 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0012220 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0100522 ORPHA:227982 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0002728 ORPHA:227982 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:227982 Autoimmune polyendocrinopathy type 3 HP:0008207 ORPHA:227982 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000564 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0001092 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0002557 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0002561 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0012814 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0100783 ORPHA:69085 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000175 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000193 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000498 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000668 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000958 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000966 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0001159 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0001770 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0002164 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0004209 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0007717 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0011819 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0011939 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0012165 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0410005 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0410030 ORPHA:69085 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000151 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000272 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000411 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0000786 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0001480 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0001596 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0003765 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0007565 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0010463 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:69085 Limb-mammary syndrome HP:0045075 ORPHA:69085 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000028 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000501 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000648 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000737 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000762 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0001263 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0001332 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0001344 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0002020 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0002059 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0002069 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0002353 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0002540 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0003202 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0003390 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0004302 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0007002 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0007817 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0008872 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0008947 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0011344 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0011471 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0030179 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0008366 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0100660 ORPHA:457205 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0012411 ORPHA:457205 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0001250 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0001482 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0001903 ORPHA:158014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0001945 ORPHA:158014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0002315 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0002716 ORPHA:158014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0002797 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0002961 ORPHA:158014 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0003401 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0010550 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0010783 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158014 Rosaï-Dorfman disease HP:0200034 ORPHA:158014 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0000164 ORPHA:2222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0000212 ORPHA:2222 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0000365 ORPHA:2222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0000574 ORPHA:2222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0000684 ORPHA:2222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0001000 ORPHA:2222 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2222 Hypertrichosis lanuginosa congenita HP:0002230 ORPHA:2222 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0011446 ORPHA:279947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0012378 ORPHA:279947 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0000366 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0000737 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0000822 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0000975 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0001945 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0002315 ORPHA:279947 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0000217 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0000613 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0000622 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0000716 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0000750 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0001260 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0001324 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0001609 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0001962 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:279947 Postorgasmic illness syndrome HP:0003552 ORPHA:279947 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0000492 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0000534 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0002213 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0002230 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0002664 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0005599 ORPHA:2221 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0000158 ORPHA:2221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0000206 ORPHA:2221 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0000956 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0001072 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0001824 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0002028 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0002716 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0004396 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0008064 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0100013 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0100606 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2221 Acquired hypertrichosis lanuginosa HP:0100615 ORPHA:2221 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0002230 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0002983 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0003510 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0008905 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0009811 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0011121 ORPHA:2220 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000311 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000324 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0002300 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0002381 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0002381 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0010529 ORPHA:2220 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000252 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000271 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000348 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000426 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000464 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000492 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000494 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000499 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000508 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000574 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0000614 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0001249 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0001263 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0001328 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0002750 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2220 Hypertrichosis cubiti HP:0005692 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0000504 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0000622 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0007663 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0025337 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0030652 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0200026 ORPHA:280921 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0000518 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0000613 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0000616 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0002315 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0011484 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0011505 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0030661 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0030953 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0100832 ORPHA:280921 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0000618 ORPHA:280921 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0007906 ORPHA:280921 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0011506 ORPHA:280921 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:280921 Idiopathic panuveitis HP:0100014 ORPHA:280921 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000147 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000431 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000508 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000815 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000826 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0001644 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0100362 ORPHA:2229 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000147 ORPHA:2228 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000164 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000232 ORPHA:2228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000668 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000684 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0000698 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0001231 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0001597 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0001800 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0001804 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0001808 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0002213 ORPHA:2228 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0006349 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0006482 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0008402 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2228 Hypodontia-dysplasia of nails syndrome HP:0012746 ORPHA:2228 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0012156 ORPHA:158048 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001744 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001876 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001945 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0012647 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0025540 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0031406 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0031691 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0032169 ORPHA:158048 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0000707 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001873 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001875 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001903 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0002155 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0002240 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0002910 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0003281 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0005521 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0011900 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0032204 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0040089 ORPHA:158048 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001250 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001251 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001260 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0002152 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0006824 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0012229 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0020101 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0030891 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0031179 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0031692 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0032260 ORPHA:158048 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0001298 ORPHA:158048 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0031700 ORPHA:158048 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158048 Hemophagocytic syndrome associated with an infection HP:0032256 ORPHA:158048 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:238606 Primary orthostatic tremor HP:0001337 ORPHA:238606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238606 Primary orthostatic tremor HP:0002071 ORPHA:238606 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:238606 Primary orthostatic tremor HP:0003011 ORPHA:238606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238606 Primary orthostatic tremor HP:0003326 ORPHA:238606 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:238606 Primary orthostatic tremor HP:0003394 ORPHA:238606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238606 Primary orthostatic tremor HP:0003457 ORPHA:238606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:238606 Primary orthostatic tremor HP:0100022 ORPHA:238606 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000277 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000298 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000324 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000343 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000358 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000465 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001182 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001357 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001762 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001840 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002650 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002804 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0003202 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0005487 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0005988 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0009465 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0100490 ORPHA:2215 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000028 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000046 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000160 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000175 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000405 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000426 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000494 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000508 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000601 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000767 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001166 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001611 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002047 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002714 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0003510 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0006610 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0009775 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0011302 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0012370 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0012400 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0040081 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0045040 ORPHA:2215 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000023 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000187 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000268 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000293 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000340 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000520 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0000772 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001252 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001557 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001561 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001804 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0001812 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002094 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002263 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0002808 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0005306 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0006101 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0006288 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0008402 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0010733 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0011800 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0040036 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0100556 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome HP:0100798 ORPHA:2215 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000252 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000316 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000413 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0008501 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0008551 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000085 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000405 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0001249 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0001263 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0001328 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0003393 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0003510 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0004736 ORPHA:2213 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000456 ORPHA:2213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0011803 ORPHA:2213 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000036 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000039 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000047 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000049 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000239 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000248 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000270 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000316 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000358 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000369 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000431 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000457 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0001177 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0005469 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0006101 ORPHA:2211 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000048 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000337 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000343 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000494 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000501 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000508 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000520 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000625 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0010059 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0011304 ORPHA:2211 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000960 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0001302 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0001339 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0002084 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0002126 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0002269 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0002536 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0007227 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0008388 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome HP:0030769 ORPHA:2211 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0000726 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001250 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0002333 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0000572 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001627 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0002312 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0100543 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0003657 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001251 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0000708 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001257 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0010536 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0000529 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001337 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0007360 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0003204 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001336 ORPHA:79262 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0001268 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0002071 ORPHA:79262 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0007256 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79262 Adult neuronal ceroid lipofuscinosis HP:0003208 ORPHA:79262 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000083 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000126 ORPHA:35687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000505 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000508 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000520 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000639 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000873 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000944 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000975 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000988 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001114 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001251 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001260 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001317 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001347 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001386 ORPHA:35687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001635 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001646 ORPHA:35687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001697 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001824 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001903 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001945 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0001959 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0002017 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0002027 ORPHA:35687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0002094 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0002202 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0002206 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0002653 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0002754 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0002797 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0000044 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0005200 ORPHA:35687 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0005930 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0006530 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0010885 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0010978 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0011001 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0012378 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0012735 ORPHA:35687 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35687 Erdheim-Chester disease HP:0100518 ORPHA:35687 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0002141 ORPHA:210272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0002172 ORPHA:210272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0002317 ORPHA:210272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0002321 ORPHA:210272 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0000496 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0000622 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0000651 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0000739 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0001289 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0002013 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0002018 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0002076 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0002315 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0012378 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0030826 ORPHA:210272 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0001751 ORPHA:210272 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:210272 Mal de débarquement HP:0410263 ORPHA:210272 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000726 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002333 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000572 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002312 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0003657 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0033044 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000750 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001251 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001310 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001260 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002015 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001336 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002072 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001337 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001332 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0011209 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002074 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002120 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0012444 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0007987 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000618 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0100543 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0025336 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002317 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001257 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001250 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0003739 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002197 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0025373 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0001272 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002059 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000550 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0030485 ORPHA:79263 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0012379 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0000729 ORPHA:79263 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002376 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0002421 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79263 Infantile neuronal ceroid lipofuscinosis HP:0007010 ORPHA:79263 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0003565 ORPHA:93552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0005421 ORPHA:93552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0045042 ORPHA:93552 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000079 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000083 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000093 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000100 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000123 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000790 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000951 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000969 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000988 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001698 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001873 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001882 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001888 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001937 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001945 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002202 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002716 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0003493 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0003613 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0011024 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0025435 ORPHA:93552 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000155 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000707 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0000709 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001250 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001324 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001369 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001541 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002013 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002027 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002086 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002094 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002301 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002315 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002725 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002829 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0003270 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0004372 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0007417 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0025300 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0025343 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0040319 ORPHA:93552 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0001596 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002014 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0002463 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0003453 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0030880 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0100543 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0100614 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93552 Pediatric systemic lupus erythematosus HP:0100749 ORPHA:93552 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000219 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000252 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000316 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000319 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000490 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000653 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000750 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001166 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001249 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001252 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001265 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001270 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001337 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001508 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0004322 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0008551 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0009088 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0012368 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0012751 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0045075 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0045082 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000722 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000729 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000739 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001263 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0007018 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0030800 ORPHA:370079 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000717 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000776 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0001250 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0002007 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0002650 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0007302 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0009553 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0009891 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0100753 ORPHA:370079 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000054 ORPHA:370079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0002937 ORPHA:370079 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000572 ORPHA:79264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002312 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001250 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002376 ORPHA:79264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002104 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001300 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000733 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000546 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002500 ORPHA:79264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0012379 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000618 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002167 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000726 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002275 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000712 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0100543 ORPHA:79264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000739 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000716 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001129 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0007010 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0007064 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002505 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001348 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000543 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000580 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002069 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0003739 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002015 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0033454 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0011951 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0025373 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002333 ORPHA:79264 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001627 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0005324 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0000975 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0032324 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001649 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002876 ORPHA:79264 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0001272 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002059 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0012692 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0007183 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis HP:0002360 ORPHA:79264 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0001305 ORPHA:2218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0002230 ORPHA:2218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0003457 ORPHA:2218 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0002754 ORPHA:2218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0040165 ORPHA:2218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome HP:0200042 ORPHA:2218 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002151 ORPHA:255182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002490 ORPHA:255182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0500231 ORPHA:255182 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001250 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001264 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001273 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002273 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002928 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0003128 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0010915 ORPHA:255182 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0000252 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001263 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001274 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001508 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002079 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002119 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002134 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0007109 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0008936 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0010864 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0001317 ORPHA:255182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002059 ORPHA:255182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0002363 ORPHA:255182 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0000175 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0000252 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0001250 ORPHA:2216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0001252 ORPHA:2216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0001276 ORPHA:2216 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0001387 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0001511 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0002269 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0002353 ORPHA:2216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0004209 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0004322 ORPHA:2216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0007598 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0008056 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0008736 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0011800 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0100543 ORPHA:2216 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0000079 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0000252 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0001561 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0001744 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0001789 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0002240 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0002269 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0002652 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0002813 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0003103 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0004322 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0006703 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0009826 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0011001 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0000252 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0000708 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0000736 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0000750 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001249 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001250 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001987 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0002161 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0003131 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0003268 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0003297 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0004322 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0008947 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0010850 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0012379 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0012403 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0012758 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001263 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0500163 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0500204 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0500208 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0500243 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0000218 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0000319 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0000457 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0000486 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0000601 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0000752 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001264 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001285 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001310 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001337 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001348 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001363 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001508 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0001999 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0002013 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0002015 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0002020 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0002033 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0002179 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0002275 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0002312 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0004971 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0006532 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0006889 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0008589 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0009739 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0011171 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0011342 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0011968 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0025331 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0030051 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0031867 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0040288 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0045074 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2203 Hyperlysinemia HP:0100022 ORPHA:2203 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2202 Palmoplantar keratoderma-deafness syndrome HP:0000407 ORPHA:2202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2202 Palmoplantar keratoderma-deafness syndrome HP:0000962 ORPHA:2202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2202 Palmoplantar keratoderma-deafness syndrome HP:0000982 ORPHA:2202 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0000982 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0001072 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0001231 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0001288 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0001761 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0003457 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0007021 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0008388 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0009830 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0010547 ORPHA:2201 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0001257 ORPHA:2201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2201 Palmoplantar keratoderma-spastic paralysis syndrome HP:0002301 ORPHA:2201 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0000212 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0000222 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0000975 ORPHA:2200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0000982 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0001231 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0001597 ORPHA:2200 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0007497 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0008392 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2200 Focal palmoplantar and gingival keratoderma HP:0008399 ORPHA:2200 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0002166 ORPHA:488333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0003474 ORPHA:488333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0007108 ORPHA:488333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0008959 ORPHA:488333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0009053 ORPHA:488333 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0001288 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0001348 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0001760 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0001761 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0003376 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0007002 ORPHA:488333 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0001765 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0003100 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0003438 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0006937 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0007328 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0008954 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0012531 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0030051 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0030237 ORPHA:488333 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0000252 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0000518 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0000708 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0000716 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0000717 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0000964 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0001010 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0001250 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0001263 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0001268 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0001276 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0001337 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0001347 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0001510 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0002017 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0002301 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0002333 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0002354 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0002514 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0004923 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0005599 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0007018 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0010550 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0010864 ORPHA:79254 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0100679 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79254 Classic phenylketonuria HP:0100716 ORPHA:79254 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0003613 ORPHA:464343 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001977 ORPHA:464343 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001937 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002625 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002641 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002829 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0004420 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0004844 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0004936 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0005268 ORPHA:464343 TAS HP:0040282 C ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0011112 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0020136 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0032376 ORPHA:464343 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0000707 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0000965 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001250 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001297 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001369 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001654 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001658 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001873 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002076 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002204 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002326 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002638 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002725 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0025324 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0025343 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0031653 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0100576 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0200042 ORPHA:464343 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0000077 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0000726 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0001681 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002072 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0002092 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0005244 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0006846 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0010885 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0012819 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0025326 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:0100758 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464343 Catastrophic antiphospholipid syndrome HP:3000042 ORPHA:464343 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001627 ORPHA:2209 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000252 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001249 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001263 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001511 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001680 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001999 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0004383 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000218 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000343 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000347 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000431 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000463 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000752 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001250 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001629 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001636 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001719 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0002079 ORPHA:2209 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000286 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000340 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000486 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0000601 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001156 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0001488 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0002032 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0002836 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0004411 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0008589 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0009611 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0012210 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:2209 Maternal phenylketonuria HP:0030084 ORPHA:2209 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0008166 ORPHA:79255 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000365 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000618 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000707 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000924 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001249 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001433 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001999 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0002376 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0003541 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0008947 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001263 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0410346 ORPHA:79255 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000943 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001257 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001638 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0002267 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0002506 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0002652 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0007204 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0010729 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0011951 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0012753 ORPHA:79255 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000158 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000212 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000343 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000369 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000400 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000455 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000768 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0000926 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001007 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001072 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001230 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001250 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001789 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0002007 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0002684 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0002690 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0002869 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0003026 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0004562 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0005280 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0006371 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0008479 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0008807 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0008812 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0011968 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0012307 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0025013 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0100767 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:3000050 ORPHA:79255 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001511 ORPHA:79255 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0001332 ORPHA:79255 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79255 GM1 gangliosidosis type 1 HP:0002071 ORPHA:79255 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis HP:0000925 ORPHA:2206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis HP:0002758 ORPHA:2206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis HP:0040163 ORPHA:2206 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis HP:0000982 ORPHA:2206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:2206 Ankylosing vertebral hyperostosis with tylosis HP:0001513 ORPHA:2206 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001510 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001538 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001943 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002149 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002155 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002240 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0003077 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0003124 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0003128 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0004322 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0006568 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0012379 ORPHA:79259 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000105 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000147 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000293 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000311 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000858 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000939 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001263 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001270 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001397 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001508 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001733 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002718 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0010974 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0100279 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0100512 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0100646 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0410252 ORPHA:79259 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000093 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000121 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000132 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000155 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000230 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000421 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000670 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000696 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000704 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000787 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000821 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000822 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000823 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000938 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0000978 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001114 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001892 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001903 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002014 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002037 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002173 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0002659 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0004387 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0005576 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0011890 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0012028 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0012146 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0030950 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0100543 ORPHA:79259 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001402 ORPHA:79259 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001997 ORPHA:79259 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0003774 ORPHA:79259 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0000518 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0000952 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0001249 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0001252 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0001263 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0001510 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0001744 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0001824 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0002017 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0002240 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0003355 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0004915 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79238 Galactose epimerase deficiency HP:0011968 ORPHA:79238 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000707 ORPHA:79239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0003251 ORPHA:79239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0012379 ORPHA:79239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0030272 ORPHA:79239 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000518 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000750 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000786 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000823 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000868 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000869 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000876 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000952 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001256 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001263 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001268 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001328 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001399 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001928 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0002013 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0002174 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0002240 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0002345 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0002910 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0006977 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0008209 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0009088 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0012537 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0030353 ORPHA:79239 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000028 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000716 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000729 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000739 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0000939 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001250 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001251 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001254 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001260 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001288 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001298 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001332 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001943 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0002014 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0002141 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0002311 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0002312 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0004349 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0007018 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0011098 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0011446 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0011968 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0020110 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0100512 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0100806 ORPHA:79239 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79239 Classic galactosemia HP:0001541 ORPHA:79239 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0001156 ORPHA:435804 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0007281 ORPHA:435804 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0009778 ORPHA:435804 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0011800 ORPHA:435804 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0002758 ORPHA:435804 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000407 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000974 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001270 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001382 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001763 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0002421 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0002751 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0003198 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0003202 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0006829 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0007502 ORPHA:300179 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000545 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000938 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000978 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001075 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001324 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0003236 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0003388 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0100790 ORPHA:300179 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0012372 ORPHA:300179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0025019 ORPHA:300179 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000482 ORPHA:300179 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0001519 ORPHA:300179 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:46348 Paroxysmal extreme pain disorder HP:0001250 ORPHA:46348 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:46348 Paroxysmal extreme pain disorder HP:0002019 ORPHA:46348 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0001410 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0001873 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0001903 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0001945 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0002960 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0003073 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0003281 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0003565 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0011118 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0012156 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0012649 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0025435 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0030356 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0030782 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0030783 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0031964 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0040089 ORPHA:158061 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0001744 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0001875 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0002155 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0002716 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0005681 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0011227 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0011900 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0031956 ORPHA:158061 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0001298 ORPHA:158061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0002240 ORPHA:158061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0002725 ORPHA:158061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158061 Macrophage activation syndrome HP:0012115 ORPHA:158061 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002155 ORPHA:79240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002240 ORPHA:79240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0008897 ORPHA:79240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0012379 ORPHA:79240 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001395 ORPHA:79240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002910 ORPHA:79240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003124 ORPHA:79240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003162 ORPHA:79240 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0000147 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0000750 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0000858 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0000876 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001252 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001394 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001744 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001947 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001988 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002194 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002719 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003202 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003236 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003323 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003325 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003326 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003394 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003546 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003749 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0004322 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0011342 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0012378 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0012734 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0100607 ORPHA:79240 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0000939 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001402 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0001903 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002013 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002014 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002018 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002913 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003128 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0003201 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0004324 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0012028 ORPHA:79240 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0001992 ORPHA:79241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0005979 ORPHA:79241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0410145 ORPHA:79241 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0000407 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0000707 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0000988 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0001250 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0001252 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0001987 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0002715 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0410263 ORPHA:79241 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0000365 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0000478 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0000509 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0000575 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0000648 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0000976 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0001138 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0001249 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0001251 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0001254 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0001596 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0002069 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0002098 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0002104 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0002123 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0002196 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0002313 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0002841 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0002883 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0003690 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0004429 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0005401 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0006511 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0011153 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0012469 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0001263 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79241 Biotinidase deficiency HP:0200068 ORPHA:79241 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0000737 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001096 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001250 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001252 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001510 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001824 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0002017 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0002039 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0011127 ORPHA:79242 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001987 ORPHA:79242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001992 ORPHA:79242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0002098 ORPHA:79242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0002789 ORPHA:79242 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0000964 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001251 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001254 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001259 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001596 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0001873 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79242 Holocarboxylase synthetase deficiency HP:0007549 ORPHA:79242 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001518 ORPHA:79243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002151 ORPHA:79243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002490 ORPHA:79243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0500231 ORPHA:79243 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0000707 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001250 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001511 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001999 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002059 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002069 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002119 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002171 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002187 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0003128 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0003542 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0004902 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0006956 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0011193 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0011196 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0011199 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0012443 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0025361 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0030917 ORPHA:79243 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0000252 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0000618 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0000954 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001251 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001252 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001274 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001332 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001338 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001371 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001629 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001761 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0001883 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002020 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002079 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002100 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002126 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002329 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002350 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002521 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002540 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002643 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0002719 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0006799 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0006970 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0006999 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0009826 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0010576 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0011471 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0011968 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0012128 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0012469 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0012698 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002355 ORPHA:79244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0012379 ORPHA:79244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0100503 ORPHA:79244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0500231 ORPHA:79244 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000496 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000546 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000707 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000708 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0001260 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0001263 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0001276 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0001288 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002136 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002180 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002268 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002395 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002454 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0003487 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0005656 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0010864 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0002454 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0025331 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0025335 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0031139 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0031936 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0031960 ORPHA:79244 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000252 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000486 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000726 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000739 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0004302 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0007994 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0011098 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0000316 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0000369 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0000463 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0000470 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0000924 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0001156 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0001250 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0001508 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0001799 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0001999 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0002370 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0002650 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0002656 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0002808 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0008093 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0011344 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0011800 ORPHA:420794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0001338 ORPHA:420794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0001561 ORPHA:420794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0005792 ORPHA:420794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0006385 ORPHA:420794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0012537 ORPHA:420794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0000943 ORPHA:420794 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0001252 ORPHA:420794 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0010230 ORPHA:420794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:420794 Cono-spondylar dysplasia HP:0010864 ORPHA:420794 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0002928 ORPHA:79246 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0001319 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0002151 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0003128 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0003348 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0003648 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0008358 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0008936 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0011342 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0040328 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79246 Pyruvate dehydrogenase phosphatase deficiency HP:0410263 ORPHA:79246 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0001257 ORPHA:35689 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0002127 ORPHA:35689 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0002493 ORPHA:35689 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0003487 ORPHA:35689 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0007034 ORPHA:35689 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0002015 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0002064 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0002200 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0002371 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0002464 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0003444 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0007199 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0010549 ORPHA:35689 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0006827 ORPHA:35689 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0007002 ORPHA:35689 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0010873 ORPHA:35689 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0002366 ORPHA:35689 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:35689 Primary lateral sclerosis HP:0003474 ORPHA:35689 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002910 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0004377 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0011900 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0025435 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001399 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001433 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002863 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002922 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0004808 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0005521 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0006721 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0006775 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012189 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012190 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012191 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012229 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0020072 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0030080 ORPHA:158057 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001402 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002667 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002860 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0003003 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012125 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0100526 ORPHA:158057 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012156 ORPHA:158057 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001744 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001876 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001945 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002958 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0003281 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0011227 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0012211 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0030782 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0040218 ORPHA:158057 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001873 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001875 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0001903 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002155 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002904 ORPHA:158057 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0002086 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0002094 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0002797 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0011842 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0011900 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0012735 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0025408 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0000421 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0000464 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0000782 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0000978 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0001433 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0001737 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0001744 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0001873 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0001945 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0002823 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0003084 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0003174 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0003312 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0003319 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0003546 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0005107 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0005562 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0011896 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0031095 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0031364 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0040163 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0100310 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0100608 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0100711 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0100749 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0100764 ORPHA:464329 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0000105 ORPHA:464329 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0001903 ORPHA:464329 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0002105 ORPHA:464329 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0002693 ORPHA:464329 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0012740 ORPHA:464329 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0002088 ORPHA:464329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0002202 ORPHA:464329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0045026 ORPHA:464329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0100763 ORPHA:464329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0100766 ORPHA:464329 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0000765 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0001698 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464329 Kaposiform lymphangiomatosis HP:0001892 ORPHA:464329 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0000135 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0000802 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0000819 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0000939 ORPHA:79230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0001254 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0001324 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0001644 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0002612 ORPHA:79230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0002910 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0003040 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0003281 ORPHA:79230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0007440 ORPHA:79230 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0011031 ORPHA:79230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0012093 ORPHA:79230 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79230 Hemochromatosis type 2 HP:0012463 ORPHA:79230 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001873 ORPHA:464321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002239 ORPHA:464321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0011121 ORPHA:464321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0012718 ORPHA:464321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0025015 ORPHA:464321 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002088 ORPHA:464321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002170 ORPHA:464321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0011354 ORPHA:464321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0025474 ORPHA:464321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0030350 ORPHA:464321 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0000077 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0000478 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0000759 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001250 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001342 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001392 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001627 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002011 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002105 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002248 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002249 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002573 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002797 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002904 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0003304 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0009139 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0011035 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0012735 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0012758 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0031368 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0045039 ORPHA:464321 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0000573 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001541 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001639 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001945 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002134 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0002514 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0003273 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0007902 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0009830 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0010536 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0025064 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0025085 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0025420 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0031938 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0040242 ORPHA:464321 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000112 ORPHA:79233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001249 ORPHA:79233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001332 ORPHA:79233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0002149 ORPHA:79233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0003149 ORPHA:79233 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000083 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000707 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000791 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001250 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001263 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001347 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001919 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0001997 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0002071 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0003259 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0012587 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0100518 ORPHA:79233 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000742 ORPHA:79233 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0000365 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0000750 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001080 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001249 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001250 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001337 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001343 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0001392 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0002354 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0003265 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0006579 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0008282 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0008947 ORPHA:79234 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79234 Crigler-Najjar syndrome type 1 HP:0012246 ORPHA:79234 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79235 Crigler-Najjar syndrome type 2 HP:0003265 ORPHA:79235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79235 Crigler-Najjar syndrome type 2 HP:0006579 ORPHA:79235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79235 Crigler-Najjar syndrome type 2 HP:0008282 ORPHA:79235 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0012024 ORPHA:79237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0012379 ORPHA:79237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0410061 ORPHA:79237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0410062 ORPHA:79237 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0000518 ORPHA:79237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0100018 ORPHA:79237 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0000815 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0000842 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0001249 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0001270 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0001433 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0001518 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0002240 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0008209 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0011098 ORPHA:79237 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0000252 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0000407 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0001250 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0001508 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0001622 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0001943 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0002361 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0003124 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0004431 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0011968 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79237 Galactokinase deficiency HP:0012768 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0000083 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0000613 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0000708 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0000975 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0000988 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0001250 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0001254 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0001287 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0001337 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0001744 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0001892 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0001945 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0002017 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0002027 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0002091 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0002094 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0002315 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0002383 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0002615 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0002716 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0003326 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0004372 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0012122 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0012733 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0012735 ORPHA:83317 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0012819 ORPHA:83317 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83317 Scrub typhus HP:0100758 ORPHA:83317 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000359 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000407 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000512 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000518 ORPHA:231178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000545 ORPHA:231178 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000572 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000575 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000639 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000662 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000670 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000682 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000691 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000716 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000738 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0000739 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0001251 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0002120 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0007360 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0007730 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0011073 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0012157 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0012377 ORPHA:231178 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231178 Usher syndrome type 2 HP:0100753 ORPHA:231178 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0000988 ORPHA:83313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0001945 ORPHA:83313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0040211 ORPHA:83313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0100872 ORPHA:83313 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0000083 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0001873 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0002315 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0002716 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0002829 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0002910 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0003326 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0003496 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0012733 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0025289 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0032156 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0040186 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0200036 ORPHA:83313 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0000967 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0001882 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0002014 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0002018 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0002027 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0003237 ORPHA:83313 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0000613 ORPHA:83313 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0002633 ORPHA:83313 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:83313 Boutonneuse fever HP:0002878 ORPHA:83313 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001987 ORPHA:247525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0011966 ORPHA:247525 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001399 ORPHA:247525 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0000707 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001250 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001254 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001257 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001508 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001950 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0002013 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0002342 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0002480 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0006889 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0011968 ORPHA:247525 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0000473 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0000575 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001251 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001252 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001256 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001259 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0001350 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0002020 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0002076 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0002315 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0002516 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0002789 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0007185 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:247525 Citrullinemia type I HP:0011448 ORPHA:247525 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001249 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001263 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001382 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0003160 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0004474 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0005328 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0007392 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0011003 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0025082 ORPHA:357058 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000023 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000260 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000270 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000426 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000486 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000494 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001252 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001302 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001511 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001763 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002197 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002198 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002376 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002384 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002438 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0005272 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0005445 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0005484 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0006891 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0008897 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0011344 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0011451 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0100874 ORPHA:357058 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000343 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000592 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001250 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001251 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001257 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001305 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001320 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001332 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001350 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001374 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0001892 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002007 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002305 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002334 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002540 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0006989 ORPHA:357058 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000365 ORPHA:357058 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000481 ORPHA:357058 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0002659 ORPHA:357058 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0000974 ORPHA:357058 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:357058 Autosomal recessive cutis laxa type 2A HP:0007957 ORPHA:357058 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000486 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000565 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000750 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001263 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001270 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001344 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0008947 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0009884 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0010864 ORPHA:371364 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000219 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000252 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000319 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000322 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000325 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000347 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000368 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000426 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000431 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000463 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000494 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001166 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001250 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001319 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001357 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001525 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001762 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001999 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002007 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002019 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002353 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002650 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0004322 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0004326 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0009931 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0010804 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001252 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0011968 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0100660 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0100963 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0200055 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000470 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000639 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0001511 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002079 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002360 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002510 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002870 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0002987 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0003273 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0003458 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0006380 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0008936 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0011470 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0100024 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0100716 ORPHA:371364 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002376 ORPHA:33069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0007240 ORPHA:33069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0007359 ORPHA:33069 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0000466 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0000729 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0000739 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0001300 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0001327 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0001336 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002063 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002067 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002123 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002349 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002373 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002384 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002396 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0006813 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0007207 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0007270 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0008770 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0010841 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0011169 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0011172 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0011182 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0011468 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0012847 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0100543 ORPHA:33069 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0000736 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0000980 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0001763 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002283 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002307 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002311 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0002345 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0003066 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0007010 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0008081 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0008947 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0011185 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0011198 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0025101 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0031475 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0100694 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0100710 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0200048 ORPHA:33069 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:33069 Dravet syndrome HP:0010818 ORPHA:33069 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93599 Primary hyperoxaluria type 2 HP:0000121 ORPHA:93599 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93599 Primary hyperoxaluria type 2 HP:0000787 ORPHA:93599 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93599 Primary hyperoxaluria type 2 HP:0003159 ORPHA:93599 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93599 Primary hyperoxaluria type 2 HP:0000010 ORPHA:93599 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93599 Primary hyperoxaluria type 2 HP:0006000 ORPHA:93599 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93599 Primary hyperoxaluria type 2 HP:0000083 ORPHA:93599 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0100518 ORPHA:93598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0000010 ORPHA:93598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0000805 ORPHA:93598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0000121 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0000787 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0001903 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0001942 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0003159 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0003761 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0011021 ORPHA:93598 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0000790 ORPHA:93598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0001508 ORPHA:93598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0012213 ORPHA:93598 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0000924 ORPHA:93598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0003774 ORPHA:93598 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0000164 ORPHA:93598 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0001297 ORPHA:93598 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0001939 ORPHA:93598 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:93598 Primary hyperoxaluria type 1 HP:0002621 ORPHA:93598 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001252 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001274 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001999 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0002683 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0002928 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0003128 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0004325 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0012758 ORPHA:255138 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001250 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001251 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001302 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001315 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001321 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0001511 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0002079 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0002119 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0002365 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0006970 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0007016 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0007109 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0007165 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0007772 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:255138 Pyruvate dehydrogenase E1-beta deficiency HP:0200012 ORPHA:255138 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0010873 ORPHA:363722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0011441 ORPHA:363722 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0000639 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0001251 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0001257 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0001260 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0001347 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0001618 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0002015 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0002313 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0002518 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0002839 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0003487 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0003690 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0007109 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0010530 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0012332 ORPHA:363722 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0002063 ORPHA:363722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0002360 ORPHA:363722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363722 Alexander disease type II HP:0002650 ORPHA:363722 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0002460 ORPHA:357043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0003202 ORPHA:357043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0003487 ORPHA:357043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0007256 ORPHA:357043 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0001258 ORPHA:357043 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0001288 ORPHA:357043 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0001761 ORPHA:357043 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357043 Amyotrophic lateral sclerosis type 4 HP:0003474 ORPHA:357043 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000008 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000175 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000252 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000256 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000269 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000431 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000463 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000470 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000582 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000772 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000913 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000921 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0001511 ORPHA:1797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0002205 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0030680 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0002650 ORPHA:1797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0003298 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0003307 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0003422 ORPHA:1797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0003510 ORPHA:1797 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0005107 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0010306 ORPHA:1797 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1795 Peripheral dysostosis HP:0001156 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1795 Peripheral dysostosis HP:0001387 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1795 Peripheral dysostosis HP:0002758 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1795 Peripheral dysostosis HP:0004209 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1795 Peripheral dysostosis HP:0004322 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1795 Peripheral dysostosis HP:0010230 ORPHA:1795 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0000161 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0000164 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0000175 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0000347 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0000366 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0000430 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0000431 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0000492 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0000499 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0000582 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0001156 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0001181 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0002006 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0003063 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0004322 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0007957 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0008056 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0100490 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0100543 ORPHA:1794 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0100840 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1794 Oculomaxillofacial dysostosis HP:0200102 ORPHA:1794 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0002500 ORPHA:363717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0007183 ORPHA:363717 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0001250 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0001272 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0001508 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0002650 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0004481 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0007256 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0012696 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0100320 ORPHA:363717 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0000238 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0001251 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0001257 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0001260 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0001263 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0001347 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0002015 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0004326 ORPHA:363717 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0001252 ORPHA:363717 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0001290 ORPHA:363717 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0002013 ORPHA:363717 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:363717 Alexander disease type I HP:0010530 ORPHA:363717 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79292 Fish-eye disease HP:0000505 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79292 Fish-eye disease HP:0001681 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79292 Fish-eye disease HP:0001744 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79292 Fish-eye disease HP:0002240 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79292 Fish-eye disease HP:0002621 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79292 Fish-eye disease HP:0002716 ORPHA:79292 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79292 Fish-eye disease HP:0003233 ORPHA:79292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79292 Fish-eye disease HP:0007957 ORPHA:79292 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000175 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000248 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000316 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000337 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000384 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000453 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000456 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000457 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000482 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000506 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000508 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000518 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000568 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000581 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000612 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0000636 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0001088 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0001140 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0001482 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0002006 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0002079 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0002084 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0003196 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0004132 ORPHA:1791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0004322 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0005280 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0007036 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0007708 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0011800 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0100335 ORPHA:1791 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1791 Frontofacionasal dysplasia HP:0100840 ORPHA:1791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000008 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000160 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000175 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000193 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000243 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000248 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000369 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000452 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000463 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000494 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000520 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000582 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0000588 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0001363 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0001522 ORPHA:1790 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0001561 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0001631 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0001643 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0002205 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0002777 ORPHA:1790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0003196 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0005439 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0005607 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0008749 ORPHA:1790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0010295 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0011800 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1790 Hypomandibular faciocranial dysostosis HP:0100543 ORPHA:1790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0000825 ORPHA:79299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0001985 ORPHA:79299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0001988 ORPHA:79299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0008283 ORPHA:79299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0030794 ORPHA:79299 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0001250 ORPHA:79299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0001324 ORPHA:79299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0002378 ORPHA:79299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0012378 ORPHA:79299 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0001259 ORPHA:79299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0005978 ORPHA:79299 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0002270 ORPHA:79299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79299 Hyperinsulinism due to glucokinase deficiency HP:0012638 ORPHA:79299 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000375 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000407 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000483 ORPHA:231183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000512 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000518 ORPHA:231183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000572 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000575 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000662 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000716 ORPHA:231183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000738 ORPHA:231183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0000739 ORPHA:231183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0001251 ORPHA:231183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0001756 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0007730 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0008499 ORPHA:231183 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0012377 ORPHA:231183 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231183 Usher syndrome type 3 HP:0100753 ORPHA:231183 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002751 ORPHA:536471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002761 ORPHA:536471 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000164 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000316 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000325 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000368 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000369 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000520 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000592 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000926 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000938 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000946 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000963 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000974 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000977 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001027 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001167 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001252 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001263 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001371 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001373 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001382 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001385 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001762 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001763 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001999 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002007 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002650 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002659 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002828 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003468 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004322 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004993 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0008453 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0012368 ORPHA:536471 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000160 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000175 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000337 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000343 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000347 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000365 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000463 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000494 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000894 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000954 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000973 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001075 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001270 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001654 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001772 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002093 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002209 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002974 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002987 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003015 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003016 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003048 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003196 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003368 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003370 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004568 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0005280 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0006487 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0008499 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0009811 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0010575 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0011332 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0011341 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0040160 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0100255 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0100864 ORPHA:536471 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000023 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000028 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000135 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000485 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000486 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000501 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000508 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000545 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000588 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000609 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000612 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0000768 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001004 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001043 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001054 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001631 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001642 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001650 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0001822 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002089 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002091 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0002999 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0003417 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004269 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004442 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0004970 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0007787 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0007957 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0008807 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0009944 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0010754 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0012687 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0040047 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome HP:0100777 ORPHA:536471 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1799 Familial developmental dysphasia HP:0002381 ORPHA:1799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1799 Familial developmental dysphasia HP:0002474 ORPHA:1799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1799 Familial developmental dysphasia HP:0002546 ORPHA:1799 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency HP:0001945 ORPHA:319600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency HP:0002716 ORPHA:319600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency HP:0010978 ORPHA:319600 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000158 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000164 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000174 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000248 ORPHA:1798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000252 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000316 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000327 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000444 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000446 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000470 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000520 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000670 ORPHA:1798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000682 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000767 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000929 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0000944 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0001156 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0002514 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0002645 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0002650 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0002652 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0002808 ORPHA:1798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0002983 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0003307 ORPHA:1798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0004322 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0004474 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0005105 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0005665 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0005930 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0006487 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0009804 ORPHA:1798 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0010669 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0011001 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0011800 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0012368 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1798 Dysostosis, Stanescu type HP:0100777 ORPHA:1798 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0001744 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0001890 ORPHA:231154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0001904 ORPHA:231154 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0002721 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0002960 ORPHA:231154 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0004430 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0005403 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0006515 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0010976 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231154 Combined immunodeficiency due to partial RAG1 deficiency HP:0100806 ORPHA:231154 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0000848 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0001278 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0001945 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0002013 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0002153 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0002615 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0002902 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0004319 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0012112 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0012606 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0025436 ORPHA:556037 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0001508 ORPHA:556037 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0008897 ORPHA:556037 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:556037 Late-onset familial hypoaldosteronism HP:0000811 ORPHA:556037 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0001904 ORPHA:464370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0003453 ORPHA:464370 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0002090 ORPHA:464370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0032169 ORPHA:464370 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0000952 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0001287 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0001945 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0005268 ORPHA:464370 TAS HP:0040283 C ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0005968 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0009800 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0032435 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:464370 Neonatal alloimmune neutropenia HP:0100806 ORPHA:464370 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000358 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000369 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000938 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001027 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001382 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002007 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002651 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002751 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002757 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002828 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0003016 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0004993 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0005008 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0006487 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0008807 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0008897 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0010575 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0011800 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0012095 ORPHA:536467 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000218 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000238 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000343 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000347 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000463 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000520 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000592 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000691 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000939 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000963 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000974 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000978 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001075 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001166 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001181 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001252 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001270 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001319 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001385 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001762 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001822 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0003196 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0003300 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0004568 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0005280 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0006243 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0010646 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0010648 ORPHA:536467 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000410 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000473 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000482 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000501 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000545 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000670 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000703 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000750 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000767 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000768 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000926 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000946 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001250 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001297 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001357 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001363 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001562 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0001634 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002089 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002091 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002093 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002098 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002616 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002650 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002779 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0002974 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0003414 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0004970 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0005678 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0006522 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0008453 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0009726 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0012366 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0012727 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0100750 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0500087 ORPHA:536467 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0007552 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0008070 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0008897 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0008947 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0009125 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0011003 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0011968 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0025167 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0100874 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000023 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000486 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001250 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001257 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001302 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001305 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001321 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001339 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001374 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002126 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0025201 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0025244 ORPHA:357074 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0010989 ORPHA:357074 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002097 ORPHA:357074 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001476 ORPHA:357074 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000218 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000253 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000272 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000316 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000319 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000343 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000369 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000455 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000463 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000494 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000670 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000726 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000750 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0000973 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001263 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001270 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001508 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001511 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0001582 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002187 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002208 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002361 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002465 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0002761 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0003160 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0003196 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0003199 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0004322 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0005272 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0005989 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0006891 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0007392 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0007457 ORPHA:357074 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000023 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000028 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000047 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000164 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000174 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000252 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000308 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000319 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000348 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000368 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000465 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000494 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000670 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000767 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0001156 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0001256 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0001511 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0001622 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0002006 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0002208 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0002750 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0003196 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0003298 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0004209 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0004279 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0004322 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0004467 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0006101 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0007477 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0007598 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0008872 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0009804 ORPHA:1786 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0010669 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0010720 ORPHA:1786 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0200055 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000047 ORPHA:1784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000048 ORPHA:1784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000119 ORPHA:1784 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000175 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000218 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000232 ORPHA:1784 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000248 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000316 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000337 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000455 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000494 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000508 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0000625 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0001053 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0001088 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0001156 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0001798 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0002120 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0002983 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0004132 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0004322 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0005930 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0009882 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0010864 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0011304 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0011800 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0100335 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0100490 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1784 Acrofrontofacionasal dysostosis HP:0100840 ORPHA:1784 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000214 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000280 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000360 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000365 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000962 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0001004 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0001071 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0001256 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0001482 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0001640 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0002321 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0005280 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0007428 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0007759 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0009830 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0012471 ORPHA:79280 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0100585 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0200034 ORPHA:79280 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0000256 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0000316 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0000365 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0000639 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0000648 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0000682 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0000684 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0000926 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0000944 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0001249 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0001291 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0001629 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0002376 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0002514 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0002757 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0003301 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0004322 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0004493 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0008065 ORPHA:1782 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0008479 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0011001 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1782 Dysosteosclerosis HP:0100670 ORPHA:1782 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0000486 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0000518 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0000717 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0001249 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0001250 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0001263 ORPHA:79281 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0001639 ORPHA:79281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0002240 ORPHA:79281 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001249 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001889 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002160 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002912 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0012120 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0031544 ORPHA:79282 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000206 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000252 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000505 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000546 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000580 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000639 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000648 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001116 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001508 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001510 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001873 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0008002 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0010280 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0011968 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0100820 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000083 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000707 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000708 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000751 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000952 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001250 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001251 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001252 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001254 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001268 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001298 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001511 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001627 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001644 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001789 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001875 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001907 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001943 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001944 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001987 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002045 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002059 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002092 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002098 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002167 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002352 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002354 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002625 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002919 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0003658 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0006827 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0007010 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0008765 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0011096 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0012469 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0012758 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0030891 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0100309 ORPHA:79282 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000238 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000276 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000319 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000348 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000369 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000709 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000726 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001297 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001942 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0001999 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002204 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0002376 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0005575 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0007258 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0012443 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0031258 ORPHA:79282 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000126 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000143 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000160 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000316 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000358 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000400 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000414 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000463 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000465 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000470 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000582 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000637 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0000776 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0001252 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0001274 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0001334 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0001511 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0001629 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0001636 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0001669 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0002023 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0002575 ORPHA:1780 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0002714 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0002937 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1780 Thakker-Donnai syndrome HP:0004602 ORPHA:1780 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0000708 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0000980 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001249 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001250 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001254 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001263 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001288 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001508 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0001980 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0002039 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0012378 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD HP:0100022 ORPHA:79283 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000219 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000455 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000750 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0001328 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0002342 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0011822 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0012745 ORPHA:370010 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000252 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000273 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000403 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000954 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0001156 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0001800 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0001831 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0001965 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0002355 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0002465 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0003484 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0004322 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0004602 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009611 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009644 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009648 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009650 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009778 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0009882 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0010041 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0010047 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0010492 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0011304 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0011939 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0012553 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0012713 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0025502 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001889 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0002160 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0003145 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0003223 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0012120 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0031544 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0100502 ORPHA:79284 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001249 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001250 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001252 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001254 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001508 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001510 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001511 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001627 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001999 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0002719 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0011968 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0012758 ORPHA:79284 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0000122 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0000175 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0000206 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0000988 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0001875 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0006571 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0010280 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0030746 ORPHA:79284 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF HP:0003658 ORPHA:79284 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0001508 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0002153 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0002615 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0002902 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0008897 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0012606 ORPHA:556030 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0000848 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0001278 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0001290 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0001944 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0002013 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0004319 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0011968 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0012112 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0025436 ORPHA:556030 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:556030 Early-onset familial hypoaldosteronism HP:0000811 ORPHA:556030 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0000130 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0000272 ORPHA:1788 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0000308 ORPHA:1788 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0000426 ORPHA:1788 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0000912 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0001180 ORPHA:1788 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0001511 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0001762 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0002139 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0002410 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0030680 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0002644 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0002974 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0003038 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0003312 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0006101 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0006495 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0006501 ORPHA:1788 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0008551 ORPHA:1788 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1788 Acrofacial dysostosis, Rodríguez type HP:0008678 ORPHA:1788 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000294 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000347 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000358 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000369 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000653 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000677 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0002750 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0004322 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0005338 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0006101 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0010044 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0011800 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0200055 ORPHA:1787 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000272 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000337 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000414 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000470 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0008070 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0003312 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0011069 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0045074 ORPHA:1787 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0000492 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0002650 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0002705 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0003298 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0003777 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0004334 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0008065 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1787 Acrofacial dysostosis, Palagonia type HP:0100333 ORPHA:1787 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0030781 ORPHA:26793 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0000952 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001518 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001629 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001631 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001655 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001985 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002045 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002098 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002240 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002876 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002910 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0003236 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0009045 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0011968 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0025502 ORPHA:26793 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0000256 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001254 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001513 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001545 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001644 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001649 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001657 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001663 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001678 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001698 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001942 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0001987 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002013 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002090 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002280 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002789 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0002901 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0003075 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0003394 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0004756 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0008947 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0011123 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0011675 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency HP:0012531 ORPHA:26793 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000375 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000407 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000512 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000518 ORPHA:231169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000572 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000575 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000662 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000682 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000716 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000738 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0000739 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0001249 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0001251 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0001263 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0001756 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0002120 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0007360 ORPHA:231169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0007730 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0008499 ORPHA:231169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0012157 ORPHA:231169 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0012377 ORPHA:231169 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231169 Usher syndrome type 1 HP:0100753 ORPHA:231169 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000135 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000480 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000518 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000568 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000639 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0001249 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0001513 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0003241 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0012758 ORPHA:363741 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000028 ORPHA:363741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000510 ORPHA:363741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000771 ORPHA:363741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0006889 ORPHA:363741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0100702 ORPHA:363741 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0000975 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0000980 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0000988 ORPHA:29822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0001250 ORPHA:29822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0001251 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0001288 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0001337 ORPHA:29822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0002014 ORPHA:29822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0002017 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0002045 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0002360 ORPHA:29822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0002793 ORPHA:29822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0004372 ORPHA:29822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0007370 ORPHA:29822 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0011675 ORPHA:29822 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:29822 Spontaneous periodic hypothermia HP:0012378 ORPHA:29822 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000303 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000327 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000484 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000508 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000565 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000581 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0001047 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0001256 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0001513 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0001822 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0006333 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0010164 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0006897 ORPHA:397973 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000256 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000486 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000506 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000729 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000752 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0001609 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0002187 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0002690 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0007663 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0011344 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0100046 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0100057 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0100068 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0100271 ORPHA:397973 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000252 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000369 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000601 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000750 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001249 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001258 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001260 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001263 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001347 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001508 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0002136 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0002307 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0002355 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0003487 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0006829 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0011470 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000341 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001250 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0001337 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0002079 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0002373 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0011400 ORPHA:477673 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0001541 ORPHA:26790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0001824 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0002017 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0002019 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0002027 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0002037 ORPHA:26790 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0002093 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0002585 ORPHA:26790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0002716 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0004298 ORPHA:26790 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0005214 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26790 Pseudomyxoma peritonei HP:0100790 ORPHA:26790 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001252 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001943 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003236 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003326 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003701 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0009020 ORPHA:26791 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000118 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000260 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000348 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000377 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000506 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000924 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001250 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001284 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001410 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001627 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001635 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001942 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001987 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002013 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002015 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002094 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002240 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002614 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002878 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002910 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003128 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003150 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003202 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003219 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003234 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003307 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003344 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003546 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003551 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003648 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0005280 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0011968 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0012240 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0025435 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0030199 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0045045 ORPHA:26791 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000078 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000113 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0000256 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001298 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001638 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0001735 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002091 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002171 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002282 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002421 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0002540 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003201 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0003691 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0006543 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0006582 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency HP:0011675 ORPHA:26791 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001508 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001942 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0003219 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0008947 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0011968 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0012758 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0045045 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0410153 ORPHA:26792 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0000708 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0000750 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001250 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001254 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001332 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001397 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001638 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001999 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0002098 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0003198 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0006929 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0012734 ORPHA:26792 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0000252 ORPHA:26792 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0000648 ORPHA:26792 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001276 ORPHA:26792 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0001511 ORPHA:26792 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000008 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000035 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000164 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000327 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000365 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000498 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000499 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000518 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000534 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000600 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000668 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000670 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000679 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000704 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000819 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000939 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000975 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0000982 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001034 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001053 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001231 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001263 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001394 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001399 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001511 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001596 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001744 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001873 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001874 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001903 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0001928 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002024 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002205 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002216 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002240 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002514 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002575 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002650 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002664 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002665 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002745 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002757 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0002894 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0004322 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0005374 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0005528 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0008065 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0008066 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0008070 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0008404 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0008661 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0010450 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0010624 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0010885 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0011364 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0012732 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0012733 ORPHA:1775 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0100585 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0100627 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0100670 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0200037 ORPHA:1775 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1775 Dyskeratosis congenita HP:0200042 ORPHA:1775 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468726 Severe primary trimethylaminuria HP:0410020 ORPHA:468726 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:468726 Severe primary trimethylaminuria HP:0003614 ORPHA:468726 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:468726 Severe primary trimethylaminuria HP:0000712 ORPHA:468726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468726 Severe primary trimethylaminuria HP:0031467 ORPHA:468726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468726 Severe primary trimethylaminuria HP:0031469 ORPHA:468726 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:468726 Severe primary trimethylaminuria HP:0000716 ORPHA:468726 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468726 Severe primary trimethylaminuria HP:0000718 ORPHA:468726 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468726 Severe primary trimethylaminuria HP:0000739 ORPHA:468726 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468726 Severe primary trimethylaminuria HP:0008770 ORPHA:468726 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:468726 Severe primary trimethylaminuria HP:0011999 ORPHA:468726 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000027 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000028 ORPHA:1772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000033 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000039 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000041 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000045 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000047 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000048 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000054 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000061 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000062 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000077 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000085 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000150 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000218 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000286 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000347 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000365 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000368 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000403 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000465 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000505 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000639 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000729 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000767 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000771 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0006610 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000808 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000812 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000821 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000823 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0000837 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002750 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001087 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001256 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0004322 ORPHA:1772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001513 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001647 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001649 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001657 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001680 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0001822 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002162 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002164 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002442 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0030680 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002650 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0002967 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0010743 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0003251 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0010044 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0008689 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0008968 ORPHA:1772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0010464 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0030079 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0012741 ORPHA:1772 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0012861 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0012887 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0030680 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0040171 ORPHA:1772 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1772 45,X/46,XY mixed gonadal dysgenesis HP:0100779 ORPHA:1772 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000069 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000133 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000147 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000175 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000286 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000288 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000368 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000413 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0000494 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0001156 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0001176 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0001256 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0001537 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0001629 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0002000 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0002750 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0004322 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0004422 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0004467 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0007598 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0008551 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0008678 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0010720 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0011304 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0011342 ORPHA:1770 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1770 XY type gonadal dysgenesis-associated anomalies syndrome HP:0100335 ORPHA:1770 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0001251 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0002198 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0002342 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0002350 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0007033 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0100543 ORPHA:370022 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000486 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000545 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000646 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000657 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0001105 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0001263 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0002363 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0007068 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0011933 ORPHA:370022 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000540 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000556 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000639 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0001252 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0002599 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0003236 ORPHA:370022 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0000750 ORPHA:370022 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0002027 ORPHA:79273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0003163 ORPHA:79273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0010472 ORPHA:79273 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0000987 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0002018 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0002460 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0002572 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0008994 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0008997 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0009763 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0010473 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0011121 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0012217 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0040319 ORPHA:79273 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0000112 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0000709 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0000992 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0001030 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0001250 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0001402 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0001649 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0002093 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0002902 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0003418 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0005325 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0007178 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0008066 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0008528 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0009937 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0012850 ORPHA:79273 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0001903 ORPHA:79273 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79273 Hereditary coproporphyria HP:0001945 ORPHA:79273 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0002027 ORPHA:79276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0003163 ORPHA:79276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0010473 ORPHA:79276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0012217 ORPHA:79276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0012379 ORPHA:79276 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0000083 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0000822 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0001268 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0001649 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0002017 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0002019 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0003418 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0006824 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0009763 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0009830 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0030833 ORPHA:79276 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0000711 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0000716 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0000738 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0000739 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0001250 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0001262 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0001289 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0001402 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0001945 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0002014 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0002093 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0002203 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0002354 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0002460 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0002595 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0002902 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0003270 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0003474 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0004347 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0007002 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0007024 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0007178 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0008994 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0008997 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0011999 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0040319 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0100785 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0410263 ORPHA:79276 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0000016 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0000020 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0000975 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0001259 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0001337 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0100518 ORPHA:79276 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79276 Acute intermittent porphyria HP:0011121 ORPHA:79276 TAS HP:0040285 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0007537 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0008066 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001030 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0040320 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001878 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0012804 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0100699 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0030756 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001790 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001072 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0000953 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001010 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0002219 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0033009 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0003401 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0000989 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0000969 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0011273 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0004447 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001923 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0020181 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0008282 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0500115 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001744 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001882 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001873 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001892 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0000618 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0100532 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0500046 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001096 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0000656 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0000938 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0100512 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0001560 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0040322 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0200041 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0005406 ORPHA:79277 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0011457 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0004552 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0002797 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0000939 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0012132 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0008069 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0002860 ORPHA:79277 TAS HP:0040284 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0012187 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0010472 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0012217 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0010473 ORPHA:79277 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79277 Congenital erythropoietic porphyria HP:0009025 ORPHA:79277 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000098 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000175 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000243 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000275 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000276 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000286 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000347 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0000474 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0001249 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0001252 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0001347 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome HP:0001582 ORPHA:1779 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0000964 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0000969 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0000989 ORPHA:79278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0000992 ORPHA:79278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0001081 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0001394 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0001410 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0001935 ORPHA:79278 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0010472 ORPHA:79278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79278 Autosomal erythropoietic protoporphyria HP:0010783 ORPHA:79278 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000028 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000049 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000239 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000286 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000303 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000316 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000319 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000369 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000411 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000431 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000494 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000506 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000508 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0001256 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0001537 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0001608 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0001928 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0002162 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0002167 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0002857 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0002967 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0003764 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0005692 ORPHA:1778 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0010669 ORPHA:1778 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000365 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000486 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000639 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000648 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000717 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000763 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000962 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001004 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001009 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001250 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001252 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001257 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001263 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001324 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001336 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0001639 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0002071 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0002240 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0002321 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0002363 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0002376 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0003401 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0003700 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0004374 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0007256 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0007360 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0009830 ORPHA:79279 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0010864 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0100585 ORPHA:79279 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0100704 ORPHA:79279 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0007029 ORPHA:231160 TAS HP:0040280 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0000822 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0001123 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0001250 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0001269 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0002326 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0002363 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0002621 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0012518 ORPHA:231160 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0002138 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0002170 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0002616 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0002647 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0012246 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:231160 Familial cerebral saccular aneurysm HP:0040197 ORPHA:231160 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000174 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000179 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000256 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000268 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000276 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000280 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000316 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000324 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000347 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000369 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000444 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000506 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000567 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000568 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0000612 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0001156 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0001249 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0001263 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0004942 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0001763 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0001831 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0002970 ORPHA:1777 TAS HP:0040282 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0004209 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0005692 ORPHA:1777 TAS HP:0040283 P ORPHA:orphadata[2023-06-17] +ORPHA:1777 Temtamy syndrome HP:0007370 ORPHA:1777 TAS HP:0040281 P ORPHA:orphadata[2023-06-17]